# RGD-PIPELINE: ftp-file-extracts # MODULE: annotations-version-1.1.9 (Oct 10, 2019) # GENERATED-ON: 2023/05/20 # PURPOSE: annotations about active Dog objects extracted from RGD database # ONTOLOGY: RDO: RGD Disease Ontology # CONTACT: rgd.data@mcw.edu # FORMAT: tab delimited text # NOTES: multiple values in a single column are separated by '|' # #COLUMN INFORMATION: # #1 RGD_ID unique RGD_ID of the annotated object #2 OBJECT_SYMBOL official symbol of the annotated object #3 OBJECT_NAME official name of the annotated object #4 OBJECT_TYPE annotated object data type: one of ['gene','qtl','strain'] #5 TERM_ACC_ID ontology term accession id #6 TERM_NAME ontology term name #7 QUALIFIER optional qualifier #8 EVIDENCE evidence #9 WITH with info #10 ASPECT aspect #11 REFERENCES db references (Reference RGDID|PUBMED ID) #12 CREATED_DATE created date #13 ASSIGNED_BY assigned by #14 MESH_OMIM_ID MESH:xxx or OMIM:xxx id corresponding to RDO:xxx id found in TERM_ACC_ID column (RGD/CTD Disease Ontology annotations only) #15 CURATION_NOTES curation notes provided by RGD curators #16 ORIGINAL_REFERENCE original reference RGD_ID OBJECT_SYMBOL OBJECT_NAME OBJECT_TYPE TERM_ACC_ID TERM_NAME QUALIFIER EVIDENCE WITH ASPECT REFERENCES CREATED_DATE ASSIGNED_BY MESH_OMIM_ID CURATION_NOTES ORIGINAL_REFERENCE 12050156 ARSA arylsulfatase A gene DOID:0050952 spastic ataxia ISO RGD:1321256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:10477432|PMID:12809637|PMID:16678723|PMID:1671769|PMID:17560502|PMID:19815439|PMID:20339381|PMID:24001781|PMID:25741868|PMID:26462614|PMID:28492532|PMID:7866401 12050156 ARSA arylsulfatase A gene DOID:0060041 autism spectrum disorder ISO RGD:1321256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984749|PMID:21984750|PMID:21984751|PMID:25255310 12050156 ARSA arylsulfatase A gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1321256 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12050156 ARSA arylsulfatase A gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1321256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12050156 ARSA arylsulfatase A gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1321256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12050156 ARSA arylsulfatase A gene DOID:10579 leukodystrophy ISO RGD:1321256 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:10381328|PMID:14517960|PMID:1671769|PMID:20339381|PMID:23581857|PMID:25741868|PMID:28492532|PMID:7866401|PMID:8723680 12050156 ARSA arylsulfatase A gene DOID:10581 metachromatic leukodystrophy ISO RGD:1321256 D RGD:7240710 20180130 OMIM 12050156 ARSA arylsulfatase A gene DOID:10581 metachromatic leukodystrophy ISO RGD:1321256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Arylsulfatase a pseudodeficiency, severe | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10533072|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12081727|PMID:12086582|PMID:12116203|PMID:12445909|PMID:12503099|PMID:12788103|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:1357970|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16110195|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1671769|PMID:1673291|PMID:1674719|PMID:1676699|PMID:1678251|PMID:1684088|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21080229|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25344692|PMID:25482214|PMID:25525159|PMID:25741868|PMID:2574462|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26890752|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28296894|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29457794|PMID:29544907|PMID:29915382|PMID:29961769|PMID:29966168|PMID:30026549|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30674982|PMID:30828547|PMID:31130284|PMID:31186049|PMID:31312839|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31967741|PMID:31969187|PMID:31980526|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32860008|PMID:33046606|PMID:33138774|PMID:33335837|PMID:33385934|PMID:33855715|PMID:34554397|PMID:6122378|PMID:7581401|PMID:7649558|PMID:7815433|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7858169|PMID:7860068|PMID:7866401|PMID:7902317|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9402957|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9668161|PMID:9744473|PMID:9819708|PMID:9888390 12050156 ARSA arylsulfatase A gene DOID:1059 intellectual disability ISO RGD:1321256 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10477432|PMID:11456299|PMID:11777924|PMID:11941485|PMID:15375602|PMID:15952986|PMID:16199547|PMID:16546179|PMID:1670590|PMID:1671769|PMID:18786133|PMID:19815439|PMID:20301309|PMID:20339381|PMID:21167507|PMID:25741868|PMID:26131420|PMID:26462614|PMID:26467025|PMID:27289174|PMID:28296894|PMID:28492532|PMID:28762252|PMID:28923328|PMID:29457794|PMID:29915382|PMID:29961769|PMID:30026549|PMID:31186049|PMID:31967741|PMID:7815434|PMID:7825603|PMID:7866401|PMID:8095918|PMID:8455580|PMID:8962139|PMID:9090526|PMID:9096767|PMID:9600244 12050156 ARSA arylsulfatase A gene DOID:13938 amenorrhea ISO RGD:1321256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12050156 ARSA arylsulfatase A gene DOID:1459 hypothyroidism ISO RGD:1310381 D RGD:9068941 20200609 RGD PMID:7901316|REF_RGD_ID:1599223 12050156 ARSA arylsulfatase A gene DOID:630 genetic disease ISO RGD:1321256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10220151|PMID:10477432|PMID:10533072|PMID:11456299|PMID:12081727|PMID:12116203|PMID:12809637|PMID:14517960|PMID:15326627|PMID:15952986|PMID:16199547|PMID:16608548|PMID:1670590|PMID:1671769|PMID:1684088|PMID:16966551|PMID:17576681|PMID:18693274|PMID:18786133|PMID:19021637|PMID:19606494|PMID:20301309|PMID:20339381|PMID:21167507|PMID:23701968|PMID:24001781|PMID:25741868|PMID:25965562|PMID:26462614|PMID:26467025|PMID:26890752|PMID:28492532|PMID:28762252|PMID:28923328|PMID:30052522|PMID:30674982|PMID:31130284|PMID:31186049|PMID:31980526|PMID:32632536|PMID:33046606|PMID:33335837|PMID:34554397|PMID:7815434|PMID:7825603|PMID:7902317|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8455580|PMID:8962139|PMID:9090526|PMID:9096767|PMID:9536098|PMID:9600244 12050156 ARSA arylsulfatase A gene DOID:9002922 Pseudoarylsulfatase A Deficiency ISO RGD:1321256 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pseudoarylsulfatase A deficiency PMID:15326627|PMID:15720392|PMID:24001781|PMID:25741868|PMID:26462614|PMID:28492532|PMID:28670130|PMID:8101038 12050156 ARSA arylsulfatase A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321256 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:10477432|PMID:11456299|PMID:15952986|PMID:16199547|PMID:1670590|PMID:1671769|PMID:18786133|PMID:20301309|PMID:21167507|PMID:25741868|PMID:26462614|PMID:28492532|PMID:28923328|PMID:7815434|PMID:7825603|PMID:8095918|PMID:8455580|PMID:8962139|PMID:9090526|PMID:9096767|PMID:9600244 12050156 ARSA arylsulfatase A gene DOID:9006534 Nervous System Malformations ISO RGD:1321256 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:15326627|PMID:15720392|PMID:24001781|PMID:25741868|PMID:26462614|PMID:28492532|PMID:28670130|PMID:8101038 12050156 ARSA arylsulfatase A gene DOID:9007448 Autosomal Sideroblastic Anemia ISO RGD:1321256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia PMID:25741868 12050156 ARSA arylsulfatase A gene DOID:9255 frontotemporal dementia ISO RGD:1321256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:10477432|PMID:12809637|PMID:1353340|PMID:16678723|PMID:18693274|PMID:18786133|PMID:19606494|PMID:23559313|PMID:25741868|PMID:25965562|PMID:26131420|PMID:26462614|PMID:28492532|PMID:31694723|PMID:33855715 12050156 ARSA arylsulfatase A gene DOID:9273 citrullinemia ISO RGD:1321256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:25741868|PMID:26467025|PMID:28492532 12050166 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28492532 12050166 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type PMID:23020937|PMID:23934111|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170 12050166 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:735595 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12050166 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:0081118 benign familial infantile seizures 5 ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 PMID:23020937|PMID:23934111|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170 12050166 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:10283 prostate cancer ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12050166 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:1059 intellectual disability ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18625963|PMID:19344764|PMID:19464834|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23596459|PMID:23934111|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170 12050166 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:1059 intellectual disability ISO RGD:735595 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18354422|PMID:18625963|PMID:19344764|PMID:19464834|PMID:21687499|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23596459|PMID:23934111|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170 12050166 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:11832 visual epilepsy ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:16235065|PMID:17765802|PMID:18625963|PMID:19344764|PMID:19464834|PMID:21703448|PMID:22612257|PMID:23596459|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611|PMID:29383681|PMID:29852413|PMID:31440727 12050166 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:12849 autistic disorder ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:23020937|PMID:23934111|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170 12050166 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:14264 benign neonatal seizures ISO RGD:735595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Benign Neonatal Epilepsy | ClinVar Annotator: match by term: Benign neonatal seizures PMID:14534157|PMID:16199547|PMID:16235065|PMID:16883520|PMID:17576681|PMID:17765802|PMID:18249525|PMID:18354422|PMID:18625963|PMID:19344764|PMID:19464834|PMID:20437616|PMID:21687499|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23146207|PMID:23360469|PMID:23596459|PMID:23934111|PMID:24375629|PMID:25052858|PMID:25278462|PMID:25524373|PMID:25640679|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26467025|PMID:26582918|PMID:27888506|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29358611|PMID:29383681|PMID:29655203|PMID:29778030|PMID:29808309|PMID:29852413|PMID:30348901|PMID:30578330|PMID:31177578|PMID:31238879|PMID:31440727|PMID:31785789|PMID:32086284|PMID:32613771|PMID:33004838|PMID:34356170|PMID:9425900|PMID:9536098 12050166 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:735595 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign familial neonatal seizures PMID:18625963|PMID:23020937|PMID:23934111|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26467025|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29358611|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170 12050166 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:1826 epilepsy ISO RGD:735595 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:28492532 12050166 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:1826 epilepsy ISO RGD:735595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532|PMID:29383681|PMID:29852413|PMID:31440727 12050166 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:18625963|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 12050166 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:630 genetic disease ISO RGD:735595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14534157|PMID:16235065|PMID:17576681|PMID:17765802|PMID:18354422|PMID:18625963|PMID:19167866|PMID:19344764|PMID:19464834|PMID:20437616|PMID:21687499|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23360469|PMID:23596459|PMID:23934111|PMID:24375629|PMID:25194482|PMID:25740509|PMID:25741868|PMID:26467025|PMID:28135719|PMID:28492532|PMID:29358611|PMID:29778030|PMID:29808309|PMID:30348901|PMID:30578330|PMID:32086284|PMID:33004838|PMID:9536098 12050166 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:9002211 Hyperalgesia ISO RGD:69222 D RGD:9068941 20200609 RGD associated with Bone Neoplasms;protein:decreased expression:dorsal root ganglia (rat) PMID:23352759|REF_RGD_ID:9686417 12050166 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:9003109 Benign Familial Neonatal Seizures, 2 ISO RGD:735595 D RGD:7240710 20180130 OMIM 12050166 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:9003109 Benign Familial Neonatal Seizures, 2 ISO RGD:735595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant form of benign neonatal seizures | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 2 PMID:10852552|PMID:14534157|PMID:16235065|PMID:16883520|PMID:17576681|PMID:17765802|PMID:18249525|PMID:18354422|PMID:18425618|PMID:1859177|PMID:18625963|PMID:19167866|PMID:19344764|PMID:19464834|PMID:20437616|PMID:21687499|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23146207|PMID:23360469|PMID:23596459|PMID:23934111|PMID:24375629|PMID:25052858|PMID:25278462|PMID:25524373|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26467025|PMID:26582918|PMID:27888506|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29358611|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:31785789|PMID:32086284|PMID:33004838|PMID:34356170|PMID:9425900|PMID:9536098 12050166 KCNQ3 potassium voltage-gated channel subfamily Q member 3 gene DOID:9008582 Developmental Disease ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12050184 SORBS3 sorbin and SH3 domain containing 3 gene DOID:630 genetic disease ISO RGD:1604395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050184 SORBS3 sorbin and SH3 domain containing 3 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1604395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12050207 SLC9C1 solute carrier family 9 member C1 gene DOID:630 genetic disease ISO RGD:1351436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050245 BCAR3 BCAR3 adaptor protein, NSP family member gene DOID:303 substance-related disorder ISO RGD:36174057 D RGD:9068941 20210129 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12050245 BCAR3 BCAR3 adaptor protein, NSP family member gene DOID:630 genetic disease ISO RGD:36174057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050245 BCAR3 BCAR3 adaptor protein, NSP family member gene DOID:9008939 Breast Neoplasms ISO RGD:36174057 D RGD:9068941 20210129 CTD CTD Direct Evidence: marker/mechanism PMID:19075277 12050290 CA4 carbonic anhydrase 4 gene DOID:0050777 Joubert syndrome ISO RGD:1353429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12050290 CA4 carbonic anhydrase 4 gene DOID:0110404 retinitis pigmentosa 17 ISO RGD:1353429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 17 PMID:15090652|PMID:15295099|PMID:15563508|PMID:17652713|PMID:19211803|PMID:20238024|PMID:20450258|PMID:20626030|PMID:25741868|PMID:28492532|PMID:33022222|PMID:7581389|PMID:9385361 12050290 CA4 carbonic anhydrase 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1353429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15090652|PMID:15295099|PMID:15563508|PMID:17576681|PMID:20238024|PMID:20626030|PMID:28492532|PMID:29343940|PMID:33022222|PMID:7581389|PMID:9385361|PMID:9536098 12050290 CA4 carbonic anhydrase 4 gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:1353429 D RGD:9068941 20200609 RGD PMID:15090652|REF_RGD_ID:1600730 12050290 CA4 carbonic anhydrase 4 gene DOID:11372 megacolon ISO RGD:1353429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12050290 CA4 carbonic anhydrase 4 gene DOID:630 genetic disease ISO RGD:1353429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12050290 CA4 carbonic anhydrase 4 gene DOID:8501 fundus dystrophy ISO RGD:1353429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:30718709 12050290 CA4 carbonic anhydrase 4 gene DOID:9002928 Colonic Neoplasms ISO RGD:1332428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12050305 FN3KRP fructosamine 3 kinase related protein gene DOID:630 genetic disease ISO RGD:1606224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050306 OR2AI2 olfactory receptor family 2 subfamily AI member 2 gene DOID:630 genetic disease ISO RGD:1606719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050309 IL11RA interleukin 11 receptor subunit alpha gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:732444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12050309 IL11RA interleukin 11 receptor subunit alpha gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:732444 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12050309 IL11RA interleukin 11 receptor subunit alpha gene DOID:0080942 anauxetic dysplasia ISO RGD:732444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12050309 IL11RA interleukin 11 receptor subunit alpha gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:732444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12050309 IL11RA interleukin 11 receptor subunit alpha gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:732444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12050309 IL11RA interleukin 11 receptor subunit alpha gene DOID:9001911 Craniosynostosis and Dental Anomalies ISO RGD:732444 D RGD:7240710 20180130 OMIM 12050309 IL11RA interleukin 11 receptor subunit alpha gene DOID:9001911 Craniosynostosis and Dental Anomalies ISO RGD:732444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis and dental anomalies PMID:21741611|PMID:25741868|PMID:34906502 12050309 IL11RA interleukin 11 receptor subunit alpha gene DOID:9002762 Ovarian Neoplasms ISO RGD:732444 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11161848 12050309 IL11RA interleukin 11 receptor subunit alpha gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:732444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12050309 IL11RA interleukin 11 receptor subunit alpha gene DOID:9004649 Heat Stroke ISO RGD:1553290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 12050309 IL11RA interleukin 11 receptor subunit alpha gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:732444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 12050309 IL11RA interleukin 11 receptor subunit alpha gene DOID:9562 primary ciliary dyskinesia ISO RGD:732444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12050309 IL11RA interleukin 11 receptor subunit alpha gene DOID:9870 galactosemia ISO RGD:732444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:11286505|PMID:15841485|PMID:17079880|PMID:22944367|PMID:28492532 12050329 ENAM enamelin gene DOID:0110052 amelogenesis imperfecta type 1B ISO RGD:1315614 D RGD:7240710 20180130 OMIM 12050329 ENAM enamelin gene DOID:0110052 amelogenesis imperfecta type 1B ISO RGD:1315614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local PMID:11487571|PMID:11978766|PMID:14684688|PMID:16246937|PMID:17125728|PMID:19329462|PMID:20439930|PMID:21597265|PMID:22414746|PMID:25741868|PMID:28334996|PMID:28492532|PMID:31478359 12050329 ENAM enamelin gene DOID:0110056 amelogenesis imperfecta type 1C ISO RGD:1315614 D RGD:7240710 20180130 OMIM 12050329 ENAM enamelin gene DOID:0110056 amelogenesis imperfecta type 1C ISO RGD:1315614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C PMID:14684688|PMID:16246937|PMID:17125728|PMID:19329462|PMID:20439930|PMID:21597265|PMID:28492532 12050329 ENAM enamelin gene DOID:2187 amelogenesis imperfecta IAGP D RGD:12801476 20210603 OMIA Amelogenesis imperfecta, ENAM-related PMID:23638899|PMID:29201383|PMID:29744112|PMID:30877375 12050329 ENAM enamelin gene DOID:2187 amelogenesis imperfecta ISO RGD:1315614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta PMID:25741868|PMID:28492532 12050329 ENAM enamelin gene DOID:630 genetic disease ISO RGD:1315614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050329 ENAM enamelin gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1315614 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12050344 ZFP69B ZFP69 zinc finger protein B gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1350662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12050344 ZFP69B ZFP69 zinc finger protein B gene DOID:630 genetic disease ISO RGD:1350662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050359 ONECUT2 one cut homeobox 2 gene DOID:0050770 polycystic liver disease ISO RGD:1354460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 12050359 ONECUT2 one cut homeobox 2 gene DOID:630 genetic disease ISO RGD:1354460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050359 ONECUT2 one cut homeobox 2 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1354460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease 12050359 ONECUT2 one cut homeobox 2 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1354460 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 12050359 ONECUT2 one cut homeobox 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 12050364 TXNL1 thioredoxin like 1 gene DOID:630 genetic disease ISO RGD:1354026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050376 CNKSR3 CNKSR family member 3 gene DOID:630 genetic disease ISO RGD:1316799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050399 RCN3 reticulocalbin 3 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1346169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12050399 RCN3 reticulocalbin 3 gene DOID:630 genetic disease ISO RGD:1346169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050399 RCN3 reticulocalbin 3 gene DOID:8398 osteoarthritis ISO RGD:1346169 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12050410 MAP4 microtubule associated protein 4 gene DOID:0060165 Kleine-Levin syndrome ISO RGD:1343248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kleine-Levin syndrome 12050410 MAP4 microtubule associated protein 4 gene DOID:630 genetic disease ISO RGD:1343248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050410 MAP4 microtubule associated protein 4 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1343248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12050410 MAP4 microtubule associated protein 4 gene DOID:9004657 Weight Gain ISO RGD:1343248 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12050465 PLPPR2 phospholipid phosphatase related 2 gene DOID:630 genetic disease ISO RGD:1604322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050495 XKR7 XK related 7 gene DOID:630 genetic disease ISO RGD:1605535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050501 GHRH growth hormone releasing hormone gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:737566 D RGD:9068941 20200609 RGD PMID:22506635|REF_RGD_ID:10401267 12050501 GHRH growth hormone releasing hormone gene DOID:0050848 obstructive sleep apnea ISO RGD:737566 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:16750036|REF_RGD_ID:5687742 12050501 GHRH growth hormone releasing hormone gene DOID:0050848 obstructive sleep apnea treatment ISO RGD:62175 D RGD:9068941 20200609 RGD PMID:23815362|REF_RGD_ID:10401240 12050501 GHRH growth hormone releasing hormone gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:62175 D RGD:9068941 20220825 MouseDO OMIM:262400 12050501 GHRH growth hormone releasing hormone gene DOID:10286 prostate carcinoma ISO RGD:737566 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate PMID:12364462|REF_RGD_ID:2289976 12050501 GHRH growth hormone releasing hormone gene DOID:10652 Alzheimer's disease treatment ISO RGD:62175 D RGD:9068941 20200609 RGD PMID:23211425|REF_RGD_ID:10401233 12050501 GHRH growth hormone releasing hormone gene DOID:11132 prostatic hypertrophy treatment ISO RGD:61883 D RGD:9068941 20200609 RGD PMID:21321192|PMID:22341819|REF_RGD_ID:10401238|REF_RGD_ID:10401264 12050501 GHRH growth hormone releasing hormone gene DOID:11396 pulmonary edema ISO RGD:737566 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22308467 12050501 GHRH growth hormone releasing hormone gene DOID:1380 endometrial cancer ISO RGD:737566 D RGD:9068941 20200609 RGD PMID:15784701|REF_RGD_ID:2301423 12050501 GHRH growth hormone releasing hormone gene DOID:1380 endometrial cancer ISO RGD:737566 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:expression in 17/22 specimens PMID:10022420|REF_RGD_ID:2289974 12050501 GHRH growth hormone releasing hormone gene DOID:1612 breast cancer ISO RGD:737566 D RGD:9068941 20200609 RGD protein:increased expression:tumor:colloid, lobular, and infiltrating ductal carcinomas PMID:1973621|REF_RGD_ID:2289972 12050501 GHRH growth hormone releasing hormone gene DOID:2234 focal epilepsy ISO RGD:737566 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12050501 GHRH growth hormone releasing hormone gene DOID:2394 ovarian cancer ISO RGD:737566 D RGD:9068941 20200609 RGD PMID:11710593|REF_RGD_ID:2301424 12050501 GHRH growth hormone releasing hormone gene DOID:2394 ovarian cancer ISO RGD:737566 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:11163834|REF_RGD_ID:2301425 12050501 GHRH growth hormone releasing hormone gene DOID:2394 ovarian cancer ISO RGD:737566 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:expression in 17/22 specimens PMID:10022420|REF_RGD_ID:2289974 12050501 GHRH growth hormone releasing hormone gene DOID:289 endometriosis ISO RGD:737566 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary PMID:11163834|REF_RGD_ID:2301425 12050501 GHRH growth hormone releasing hormone gene DOID:4450 renal cell carcinoma ISO RGD:737566 D RGD:9068941 20200609 RGD PMID:10962030|REF_RGD_ID:2301426 12050501 GHRH growth hormone releasing hormone gene DOID:535 sleep disorder ISO RGD:61883 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, multiple (rat) PMID:16859658|REF_RGD_ID:5687196 12050501 GHRH growth hormone releasing hormone gene DOID:5844 myocardial infarction treatment ISO RGD:61883 D RGD:9068941 20200609 RGD PMID:24373935|REF_RGD_ID:10401242 12050501 GHRH growth hormone releasing hormone gene DOID:630 genetic disease ISO RGD:737566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050501 GHRH growth hormone releasing hormone gene DOID:9002234 Pituitary Neoplasms ISO RGD:737566 D RGD:9068941 20200609 RGD Adenoma; human gene in mouse model PMID:1425411|REF_RGD_ID:5687177 12050501 GHRH growth hormone releasing hormone gene DOID:9002763 Experimental Autoimmune Encephalomyelitis resistance ISO RGD:62175 D RGD:9068941 20200609 RGD PMID:21846799|REF_RGD_ID:5687168 12050501 GHRH growth hormone releasing hormone gene DOID:9002775 Cognitive Dysfunction treatment ISO RGD:737566 D RGD:9068941 20200609 RGD PMID:23689947|REF_RGD_ID:10401232 12050501 GHRH growth hormone releasing hormone gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:61883 D RGD:9068941 20200609 RGD PMID:22393012|REF_RGD_ID:10401241 12050501 GHRH growth hormone releasing hormone gene DOID:9007827 Upper Airway Obstruction ISO RGD:61883 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:hypothalamus (rat) PMID:21406516|REF_RGD_ID:5687169 12050501 GHRH growth hormone releasing hormone gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:737566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 12050514 BRAP BRCA1 associated protein gene DOID:5844 myocardial infarction ISO RGD:1348068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198608 12050514 BRAP BRCA1 associated protein gene DOID:630 genetic disease ISO RGD:1348068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050540 FOXM1 forkhead box M1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1604404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:13679865 12050540 FOXM1 forkhead box M1 gene DOID:10534 stomach cancer severity ISO RGD:1604404 D RGD:9068941 20220217 RGD protein:increased expression:stomach (human) PMID:25482013|REF_RGD_ID:151356929 12050540 FOXM1 forkhead box M1 gene DOID:11714 gestational diabetes ISO RGD:62099 D RGD:9068941 20200609 RGD PMID:19833884|REF_RGD_ID:2315927 12050540 FOXM1 forkhead box M1 gene DOID:1240 leukemia ISO RGD:1604404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19436953 12050540 FOXM1 forkhead box M1 gene DOID:1324 lung cancer ISO RGD:62099 D RGD:9068941 20220825 MouseDO OMIM:211980 | OMIM:608935 | OMIM:612571 | OMIM:612593 | OMIM:614210 12050540 FOXM1 forkhead box M1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1604404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 12050540 FOXM1 forkhead box M1 gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:1604404 D RGD:9068941 20230225 RGD PMID:24859161|REF_RGD_ID:156430321 12050540 FOXM1 forkhead box M1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1604404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18345025|PMID:19672312 12050540 FOXM1 forkhead box M1 gene DOID:630 genetic disease ISO RGD:1604404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050540 FOXM1 forkhead box M1 gene DOID:684 hepatocellular carcinoma ISO RGD:1604404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15082532|PMID:17173139|PMID:28284560 12050540 FOXM1 forkhead box M1 gene DOID:684 hepatocellular carcinoma ISO RGD:62099 D RGD:9068941 20220825 MouseDO OMIM:114550 12050540 FOXM1 forkhead box M1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1604404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15082532 12050540 FOXM1 forkhead box M1 gene DOID:9005172 Lung Neoplasms ISO RGD:1604404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16489016|PMID:23255470 12050540 FOXM1 forkhead box M1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1604404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12050540 FOXM1 forkhead box M1 gene DOID:9008939 Breast Neoplasms ISO RGD:1604404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20208560 12050540 FOXM1 forkhead box M1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:62099 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 12050560 CFAP45 cilia and flagella associated protein 45 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1604370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12050560 CFAP45 cilia and flagella associated protein 45 gene DOID:1540 parathyroid carcinoma ISO RGD:1604370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12050560 CFAP45 cilia and flagella associated protein 45 gene DOID:1790 malignant mesothelioma ISO RGD:1604370 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 12050560 CFAP45 cilia and flagella associated protein 45 gene DOID:630 genetic disease ISO RGD:1604370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050560 CFAP45 cilia and flagella associated protein 45 gene DOID:9002158 Visceral Heterotaxy 11, Autosomal ISO RGD:1604370 D RGD:7240710 20211201 OMIM 12050560 CFAP45 cilia and flagella associated protein 45 gene DOID:9002158 Visceral Heterotaxy 11, Autosomal ISO RGD:1604370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 11, autosomal, with male infertility PMID:33139725 12050560 CFAP45 cilia and flagella associated protein 45 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12050574 RAI1 retinoic acid induced 1 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1318304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 12050574 RAI1 retinoic acid induced 1 gene DOID:0050777 Joubert syndrome ISO RGD:1318304 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12050574 RAI1 retinoic acid induced 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20981775 12050574 RAI1 retinoic acid induced 1 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1318304 D RGD:7240710 20180130 OMIM 12050574 RAI1 retinoic acid induced 1 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1318304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Smith-Magenis syndrome PMID:12652298|PMID:15788730|PMID:21857958|PMID:22578325|PMID:24033266|PMID:25087610|PMID:25741868|PMID:26467025|PMID:27082237|PMID:27884173|PMID:28135719|PMID:28166811|PMID:28492532|PMID:31690835 12050574 RAI1 retinoic acid induced 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1318304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12050574 RAI1 retinoic acid induced 1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1318304 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12050574 RAI1 retinoic acid induced 1 gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1318304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 9 PMID:25741868|PMID:27082237|PMID:28492532 12050574 RAI1 retinoic acid induced 1 gene DOID:1059 intellectual disability ISO RGD:1318304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868 12050574 RAI1 retinoic acid induced 1 gene DOID:12849 autistic disorder ISO RGD:1318304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12050574 RAI1 retinoic acid induced 1 gene DOID:1909 melanoma ISO RGD:1318304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12050574 RAI1 retinoic acid induced 1 gene DOID:2030 anxiety disorder ISO RGD:1318304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18285828 12050574 RAI1 retinoic acid induced 1 gene DOID:630 genetic disease ISO RGD:1318304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:21857958|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28057753|PMID:28166811|PMID:28492532|PMID:29458409|PMID:8841119 12050574 RAI1 retinoic acid induced 1 gene DOID:9001366 Psychomotor Agitation ISO RGD:1318304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18285828 12050574 RAI1 retinoic acid induced 1 gene DOID:9002111 Dyssomnias ISO RGD:1318304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19752160 12050574 RAI1 retinoic acid induced 1 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1318304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19116176 12050574 RAI1 retinoic acid induced 1 gene DOID:9006257 Growth Disorders ISO RGD:1318304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18285828 12050574 RAI1 retinoic acid induced 1 gene DOID:9007693 CAPOS Syndrome ISO RGD:1318304 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CAPOS syndrome PMID:25741868 12050574 RAI1 retinoic acid induced 1 gene DOID:9008582 Developmental Disease ISO RGD:1318304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12050574 RAI1 retinoic acid induced 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1318304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19116176 12050574 RAI1 retinoic acid induced 1 gene DOID:9970 obesity ISO RGD:1318304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15459175|PMID:19116176 12050589 TMEM63C transmembrane protein 63C gene DOID:1059 intellectual disability ISO RGD:1320973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12050589 TMEM63C transmembrane protein 63C gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1320973 D RGD:9068941 20210820 RGD protein:decreased expression:kidney,renal glomerulus (human) PMID:30900988|REF_RGD_ID:15023481 12050589 TMEM63C transmembrane protein 63C gene DOID:630 genetic disease ISO RGD:1320973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050589 TMEM63C transmembrane protein 63C gene DOID:9001542 Albuminuria ISO RGD:1310207 D RGD:9068941 20210820 RGD mRNA:increased expression:kidney,renal glomerulus (rat) PMID:30900988|REF_RGD_ID:15023481 12050589 TMEM63C transmembrane protein 63C gene DOID:9003756 Spastic Paraplegia 87, Autosomal Recessive ISO RGD:1320973 D RGD:7240710 20220810 OMIM 12050589 TMEM63C transmembrane protein 63C gene DOID:9003756 Spastic Paraplegia 87, Autosomal Recessive ISO RGD:1320973 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 87, autosomal recessive PMID:35718349 12050630 KCNK13 potassium two pore domain channel subfamily K member 13 gene DOID:0080054 achondrogenesis type IA ISO RGD:68985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12050630 KCNK13 potassium two pore domain channel subfamily K member 13 gene DOID:0080600 COVID-19 ISO RGD:68985 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12050630 KCNK13 potassium two pore domain channel subfamily K member 13 gene DOID:630 genetic disease ISO RGD:68985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050637 AJAP1 adherens junctions associated protein 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603390 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12050637 AJAP1 adherens junctions associated protein 1 gene DOID:12712 nephronophthisis ISO RGD:1603390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 12050637 AJAP1 adherens junctions associated protein 1 gene DOID:630 genetic disease ISO RGD:1603390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050637 AJAP1 adherens junctions associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12050654 CMTM7 CKLF like MARVEL transmembrane domain containing 7 gene DOID:630 genetic disease ISO RGD:1313855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050689 FAM163B family with sequence similarity 163 member B gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1604863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12050689 FAM163B family with sequence similarity 163 member B gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1604863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12050689 FAM163B family with sequence similarity 163 member B gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1604863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12050689 FAM163B family with sequence similarity 163 member B gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1604863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12050689 FAM163B family with sequence similarity 163 member B gene DOID:0081097 Rafiq syndrome ISO RGD:1604863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12050689 FAM163B family with sequence similarity 163 member B gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1604863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12050689 FAM163B family with sequence similarity 163 member B gene DOID:3652 Leigh disease ISO RGD:1604863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12050689 FAM163B family with sequence similarity 163 member B gene DOID:630 genetic disease ISO RGD:1604863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050699 SYDE1 synapse defective Rho GTPase homolog 1 gene DOID:630 genetic disease ISO RGD:1602201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050711 PKN1 protein kinase N1 gene DOID:630 genetic disease ISO RGD:1352784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050711 PKN1 protein kinase N1 gene DOID:9002514 Neointima ameliorates ISO RGD:69308 D RGD:9068941 20230413 RGD PMID:22893700|REF_RGD_ID:243065233 12050762 TMEM191C transmembrane protein 191C gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1641960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 12050762 TMEM191C transmembrane protein 191C gene DOID:11198 DiGeorge syndrome ISO RGD:1641960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 12050762 TMEM191C transmembrane protein 191C gene DOID:12849 autistic disorder ISO RGD:1641960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12050762 TMEM191C transmembrane protein 191C gene DOID:630 genetic disease ISO RGD:1641960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050846 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:0112168 autosomal dominant nonsyndromic deafness 77 ISO RGD:1344624 D RGD:7240710 20200701 OMIM 12050846 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:0112168 autosomal dominant nonsyndromic deafness 77 ISO RGD:1344624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 77 PMID:31273342 12050846 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:10652 Alzheimer's disease ISO RGD:10919 D RGD:9068941 20200609 RGD PMID:25991605|REF_RGD_ID:13801010 12050846 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:10763 hypertension ISO RGD:1344624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17272743 12050846 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:114 heart disease ISO RGD:1344624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16330681 12050846 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:12849 autistic disorder ISO RGD:1344624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12050846 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:1324 lung cancer treatment ISO RGD:10919 D RGD:9068941 20220901 RGD PMID:35289739|REF_RGD_ID:153344587 12050846 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:1826 epilepsy ISO RGD:1344624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12050846 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:1344624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum PMID:11439001|PMID:16541094 12050846 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:2841 asthma ISO RGD:10919 D RGD:9068941 20200609 RGD PMID:18931056|REF_RGD_ID:5128825 12050846 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1344624 D RGD:9068941 20200609 RGD DNA:SNPs: :rs212093, rs4148382 (human) PMID:20487524|REF_RGD_ID:5128824 12050846 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1344624 D RGD:9068941 20200609 RGD mRNA:decreased expression:respiratory epithelial cell PMID:12930913|REF_RGD_ID:5128827 12050846 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:5419 schizophrenia ISO RGD:1344624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12050846 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1344624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25275603 12050846 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:574 peripheral nervous system disease ISO RGD:1344624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 12050846 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:630 genetic disease ISO RGD:1344624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050846 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:8445 intestinal volvulus ISO RGD:1344624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12050846 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:874 bacterial pneumonia ISO RGD:10919 D RGD:9068941 20200609 RGD PMID:11238654|REF_RGD_ID:5128828 12050846 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:9000918 Disease Progression ISO RGD:1344624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25078270 12050846 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1344624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18256692 12050846 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18466103 12050846 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:1344624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:24581741|PMID:26601923|PMID:28492532|PMID:30554721 12050846 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1344624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12050846 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1344624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12050846 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1344624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25078270 12050846 ABCC1 ATP binding cassette subfamily C member 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1344624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:0050700 cardiomyopathy ISO RGD:619569 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33171190 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:0060500 drug allergy ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20216337 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29341352 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:619569 D RGD:9068941 20200609 RGD DNA:SNPs:exon:p.Glu1188Val(rs17222723),p.Tyr1515Cys(rs8187710)(human) PMID:18926681|REF_RGD_ID:14700775 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:114 heart disease ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16330681 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:11832 visual epilepsy treatment ISO RGD:2366 D RGD:9068941 20200609 RGD PMID:12663688|REF_RGD_ID:704399 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:12236 primary biliary cholangitis ISO RGD:2366 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:15770136|REF_RGD_ID:14700810 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:12236 primary biliary cholangitis ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15542527 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:12308 Dubin-Johnson syndrome ISO RGD:619569 D RGD:7240710 20180130 OMIM 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:12308 Dubin-Johnson syndrome ISO RGD:619569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dubin-Johnson syndrome PMID:10053008|PMID:10464142|PMID:11266082|PMID:11477083|PMID:11901087|PMID:12388192|PMID:12395335|PMID:12942343|PMID:15180328|PMID:15519273|PMID:15821043|PMID:15870973|PMID:16012956|PMID:16199547|PMID:16549534|PMID:16847695|PMID:16952291|PMID:18334920|PMID:18445995|PMID:18673259|PMID:18974617|PMID:20799350|PMID:20849526|PMID:20981092|PMID:21044052|PMID:21449672|PMID:21691255|PMID:22290738|PMID:22318656|PMID:23557583|PMID:24033266|PMID:25087612|PMID:25111166|PMID:25336012|PMID:25741868|PMID:27604170|PMID:27706244|PMID:27882152|PMID:28492532|PMID:28713894|PMID:29499989|PMID:31544333|PMID:9185779|PMID:9425227|PMID:9878557 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:12308 Dubin-Johnson syndrome susceptibility ISO RGD:619569 D RGD:9068941 20200609 RGD PMID:10053008|REF_RGD_ID:1598616 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:13250 diarrhea ISO RGD:619569 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32387182 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:13580 cholestasis ISO RGD:2366 D RGD:9068941 20200609 RGD PMID:12702498|PMID:16037978|PMID:17009103|REF_RGD_ID:11081011|REF_RGD_ID:1598571|REF_RGD_ID:1598614 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:13580 cholestasis ISO RGD:2366 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:intestine: PMID:15057744|REF_RGD_ID:11081007 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:13580 cholestasis ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10869290|PMID:17681005|PMID:22521610 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:13580 cholestasis disease_progression ISO RGD:619569 D RGD:9068941 20200609 RGD protein:decreased expression:intestine: PMID:15057744|REF_RGD_ID:11081007 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:13580 cholestasis treatment ISO RGD:2366 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:27090119|REF_RGD_ID:15090804 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:1793 pancreatic cancer ISO RGD:619569 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:19020751|REF_RGD_ID:2317509 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:1824 status epilepticus ISO RGD:2366 D RGD:9068941 20200609 RGD PMID:16504477|REF_RGD_ID:1598613 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:1824 status epilepticus ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16504477 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:2044 drug-induced hepatitis no_association ISO RGD:619569 D RGD:9068941 20200609 RGD DNA:SNPs:multiple: PMID:22178260|REF_RGD_ID:14700817 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:2044 drug-induced hepatitis susceptibility ISO RGD:619569 D RGD:9068941 20200609 RGD DNA:polymorphisms,haplotype:promoter:g.-1774delG,g.-1549G>A(human) PMID:17502832|REF_RGD_ID:14700816 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:619569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:2741 bilirubin metabolic disorder ISO RGD:10368 D RGD:9068941 20200609 RGD PMID:16899240|REF_RGD_ID:1598605 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:2741 bilirubin metabolic disorder ISO RGD:2366 D RGD:9068941 20200609 RGD PMID:16899240|REF_RGD_ID:1598605 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:2741 bilirubin metabolic disorder ISO RGD:2366 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:8662992|REF_RGD_ID:631914 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:2741 bilirubin metabolic disorder ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16611851 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:2741 bilirubin metabolic disorder ISO RGD:619569 D RGD:9068941 20200609 RGD PMID:16899240|REF_RGD_ID:1598605 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:2741 bilirubin metabolic disorder treatment ISO RGD:619569 D RGD:9068941 20200609 RGD PMID:15846474|REF_RGD_ID:11081004 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21206495 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:619569 D RGD:9068941 20200609 RGD DNA:SNPs: :-24C>T, 3972C>T(human) PMID:17534875|REF_RGD_ID:11080964 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:4947 cholangiocarcinoma susceptibility ISO RGD:619569 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:c.3972C>T (human) PMID:19451719|REF_RGD_ID:2317508 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25275603 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:630 genetic disease ISO RGD:619569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:7148 rheumatoid arthritis ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:77 gastrointestinal system disease ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18381794 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:783 end stage renal disease ISO RGD:2366 D RGD:9068941 20200609 RGD PMID:17135344|REF_RGD_ID:2301067 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:619569 D RGD:9068941 20200609 RGD DNA:haploltype: :-24C>T, 1249G>A, 3972C>T(human) PMID:25060527|REF_RGD_ID:11080961 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:863 nervous system disease ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9004486 Drug-induced Neutropenia no_association ISO RGD:619569 D RGD:9068941 20200609 RGD associated with neoplasm;DNA:SNP:rs12762549(human) PMID:23188068|REF_RGD_ID:11080999 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:619569 D RGD:9068941 20200609 RGD associated with neoplasm;DNA:SNP:rs12762549(human) PMID:18294295|REF_RGD_ID:11080980 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9004590 Acute Liver Failure ISO RGD:2366 D RGD:9068941 20200609 RGD PMID:16899240|REF_RGD_ID:1598605 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9004593 Drug-Induced Immune Thrombocytopenia susceptibility ISO RGD:619569 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP, haplotype:promoter,cds: 3972C>T, -24C>T(human) PMID:20943283|REF_RGD_ID:11080978 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2366 D RGD:9068941 20200609 RGD mRNA: increased expression: brain PMID:17664251|REF_RGD_ID:2312730 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2366 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:20487213|REF_RGD_ID:11541075 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2366 D RGD:9068941 20200609 RGD protein: increased expression PMID:19356064|REF_RGD_ID:2312728 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9005930 Endotoxemia ISO RGD:2366 D RGD:9068941 20200609 RGD PMID:16572733|REF_RGD_ID:1598611 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:619569 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:20216337|PMID:23222202|PMID:25007187|PMID:32387182 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18381794|PMID:18466103 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:619569 D RGD:9068941 20200609 RGD PMID:25196354|REF_RGD_ID:14700812 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:619569 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-24C>T(human) PMID:17241877|REF_RGD_ID:14700814 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:10368 D RGD:9068941 20200609 RGD protein: increased expression PMID:18189363|REF_RGD_ID:2312726 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2366 D RGD:9068941 20200609 RGD mRNA: decreased expression: liver PMID:15319330|REF_RGD_ID:2312736 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2366 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:25152023|REF_RGD_ID:14700811 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9452 fatty liver disease ISO RGD:2366 D RGD:9068941 20200609 RGD PMID:16139386|REF_RGD_ID:1598602 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:987 alopecia ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18381794 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:619569 D RGD:9068941 20200609 RGD DNA:SNP:5'UTR:rs717620(human) PMID:24404132|REF_RGD_ID:11080959 12050879 ABCC2 ATP binding cassette subfamily C member 2 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:619569 D RGD:9068941 20200609 RGD DNA:SNPs: :rs717620(human) PMID:25007187|REF_RGD_ID:11080979 12050914 MAPK9 mitogen-activated protein kinase 9 gene DOID:0060071 pre-malignant neoplasm ISO RGD:628847 D RGD:9068941 20200609 RGD associated with Liver Neoplasms, Experimental;protein:decreased expression:liver PMID:18081878|REF_RGD_ID:2304231 12050914 MAPK9 mitogen-activated protein kinase 9 gene DOID:0060071 pre-malignant neoplasm ISO RGD:736023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21317887 12050914 MAPK9 mitogen-activated protein kinase 9 gene DOID:10652 Alzheimer's disease ISO RGD:736023 D RGD:9068941 20200609 RGD protein:increased expression:brain,CA1 field of hippocampus: PMID:11208906|REF_RGD_ID:10412676 12050914 MAPK9 mitogen-activated protein kinase 9 gene DOID:12098 trigeminal neuralgia ISO RGD:736023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12050914 MAPK9 mitogen-activated protein kinase 9 gene DOID:13619 extrahepatic cholestasis ISO RGD:736023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 12050914 MAPK9 mitogen-activated protein kinase 9 gene DOID:2237 hepatitis ISO RGD:736024 D RGD:9068941 20220811 RGD PMID:25173965|REF_RGD_ID:153305943 12050914 MAPK9 mitogen-activated protein kinase 9 gene DOID:2349 arteriosclerosis ISO RGD:736024 D RGD:9068941 20200609 RGD PMID:15567863|REF_RGD_ID:1582314 12050914 MAPK9 mitogen-activated protein kinase 9 gene DOID:326 ischemia ISO RGD:736023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19667931 12050914 MAPK9 mitogen-activated protein kinase 9 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:736023 D RGD:9068941 20200609 RGD PMID:22517435|REF_RGD_ID:14348976 12050914 MAPK9 mitogen-activated protein kinase 9 gene DOID:630 genetic disease ISO RGD:736023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050914 MAPK9 mitogen-activated protein kinase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736023 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21779479 12050914 MAPK9 mitogen-activated protein kinase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736023 D RGD:9068941 20200609 RGD associated with Colorectal Neoplasms PMID:25205654|REF_RGD_ID:13217416 12050914 MAPK9 mitogen-activated protein kinase 9 gene DOID:9002211 Hyperalgesia ISO RGD:736023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12050914 MAPK9 mitogen-activated protein kinase 9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736023 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32512071 12050914 MAPK9 mitogen-activated protein kinase 9 gene DOID:9004009 Reperfusion Injury ISO RGD:736023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19667931|PMID:20302854 12050914 MAPK9 mitogen-activated protein kinase 9 gene DOID:9006205 Animal Disease Models ISO RGD:736023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12050914 MAPK9 mitogen-activated protein kinase 9 gene DOID:9256 colorectal cancer treatment ISO RGD:736023 D RGD:9068941 20200609 RGD PMID:25205654|REF_RGD_ID:13217416 12050914 MAPK9 mitogen-activated protein kinase 9 gene DOID:9352 type 2 diabetes mellitus ISO RGD:628847 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:pancreatic islet: PMID:21911753|REF_RGD_ID:13506785 12050914 MAPK9 mitogen-activated protein kinase 9 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736023 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:pancreatic islet: PMID:21911753|REF_RGD_ID:13506785 12050945 SRPK2 SRSF protein kinase 2 gene DOID:3312 bipolar disorder ISO RGD:1312944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12050945 SRPK2 SRSF protein kinase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12050945 SRPK2 SRSF protein kinase 2 gene DOID:630 genetic disease ISO RGD:1312944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12050981 DCHS1 dachsous cadherin-related 1 gene DOID:0060238 Van Maldergem syndrome ISO RGD:1349063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24056717 12050981 DCHS1 dachsous cadherin-related 1 gene DOID:0080585 Van Maldergem syndrome 1 ISO RGD:1349063 D RGD:7240710 20190327 OMIM 12050981 DCHS1 dachsous cadherin-related 1 gene DOID:0080585 Van Maldergem syndrome 1 ISO RGD:1349063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Van Maldergem syndrome 1 PMID:22473091|PMID:24056717|PMID:25741868|PMID:28492532 12050981 DCHS1 dachsous cadherin-related 1 gene DOID:2661 myoepithelioma ISO RGD:1349063 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12050981 DCHS1 dachsous cadherin-related 1 gene DOID:630 genetic disease ISO RGD:1349063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28518168|PMID:30755392|PMID:32461654 12050981 DCHS1 dachsous cadherin-related 1 gene DOID:9002205 Periventricular Nodular Heterotopia 2 ISO RGD:1349063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24056717 12050981 DCHS1 dachsous cadherin-related 1 gene DOID:9002971 Myxomatous Mitral Valve Prolapse 2 ISO RGD:1349063 D RGD:7240710 20180130 OMIM 12050981 DCHS1 dachsous cadherin-related 1 gene DOID:9002971 Myxomatous Mitral Valve Prolapse 2 ISO RGD:1349063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DCHS1-related disorder | ClinVar Annotator: match by term: Mitral valve prolapse, myxomatous 2 PMID:12707861|PMID:25741868|PMID:26258302|PMID:28492532 12050981 DCHS1 dachsous cadherin-related 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1349063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:30755392 12050981 DCHS1 dachsous cadherin-related 1 gene DOID:988 mitral valve prolapse ISO RGD:1616539 D RGD:9068941 20220825 MouseDO OMIM:157700 | OMIM:607829 | OMIM:610840 12051006 ITGA9 integrin subunit alpha 9 gene DOID:0050451 Brugada syndrome ISO RGD:1322518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 12051006 ITGA9 integrin subunit alpha 9 gene DOID:10763 hypertension susceptibility ISO RGD:1322518 D RGD:9068941 20200609 RGD DNA:SNP: :rs155524(human) PMID:20479155|REF_RGD_ID:13602005 12051006 ITGA9 integrin subunit alpha 9 gene DOID:1793 pancreatic cancer ISO RGD:1322518 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 12051006 ITGA9 integrin subunit alpha 9 gene DOID:3526 cerebral infarction susceptibility ISO RGD:1322518 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:rs189897,rs2212020(human) PMID:21764681|REF_RGD_ID:13602007 12051006 ITGA9 integrin subunit alpha 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1322518 D RGD:9068941 20220908 RGD mRNA:decreased expression:lung (human) PMID:22491060|REF_RGD_ID:153350086 12051006 ITGA9 integrin subunit alpha 9 gene DOID:630 genetic disease ISO RGD:1322518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051006 ITGA9 integrin subunit alpha 9 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1322518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 12051039 CPNE8 copine 8 gene DOID:630 genetic disease ISO RGD:1317425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051066 PAIP2 poly(A) binding protein interacting protein 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1312240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12051066 PAIP2 poly(A) binding protein interacting protein 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1312240 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12051066 PAIP2 poly(A) binding protein interacting protein 2 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1312240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12051066 PAIP2 poly(A) binding protein interacting protein 2 gene DOID:630 genetic disease ISO RGD:1312240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051066 PAIP2 poly(A) binding protein interacting protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12051066 PAIP2 poly(A) binding protein interacting protein 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312240 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12051066 PAIP2 poly(A) binding protein interacting protein 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1312240 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 12051082 CLDN8 claudin 8 gene DOID:1790 malignant mesothelioma ISO RGD:1318427 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 12051082 CLDN8 claudin 8 gene DOID:630 genetic disease ISO RGD:1318427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051087 KIFBP kinesin family binding protein gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1317800 D RGD:7240710 20190315 OMIM 12051087 KIFBP kinesin family binding protein gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1317800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome PMID:15883926|PMID:18414213|PMID:23427148|PMID:24072599|PMID:24901346|PMID:25741868|PMID:26467025|PMID:28277559|PMID:28492532|PMID:32939943 12051087 KIFBP kinesin family binding protein gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1317800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15883926 12051087 KIFBP kinesin family binding protein gene DOID:1059 intellectual disability ISO RGD:1317800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15883926 12051087 KIFBP kinesin family binding protein gene DOID:10907 microcephaly ISO RGD:1317800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15883926 12051087 KIFBP kinesin family binding protein gene DOID:574 peripheral nervous system disease ISO RGD:1317800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 12051087 KIFBP kinesin family binding protein gene DOID:630 genetic disease ISO RGD:1317800 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051087 KIFBP kinesin family binding protein gene DOID:870 neuropathy ISO RGD:1317800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 12051098 LRRC36 leucine rich repeat containing 36 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12051098 LRRC36 leucine rich repeat containing 36 gene DOID:630 genetic disease ISO RGD:1605363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051136 HDHD2 haloacid dehalogenase like hydrolase domain containing 2 gene DOID:0060356 Vici syndrome ISO RGD:1348609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 12051136 HDHD2 haloacid dehalogenase like hydrolase domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1348609 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12051136 HDHD2 haloacid dehalogenase like hydrolase domain containing 2 gene DOID:630 genetic disease ISO RGD:1348609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051136 HDHD2 haloacid dehalogenase like hydrolase domain containing 2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1348609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 12051136 HDHD2 haloacid dehalogenase like hydrolase domain containing 2 gene DOID:9004657 Weight Gain ISO RGD:1348609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12051150 GPRASP3 G protein-coupled receptor associated sorting protein family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12051150 GPRASP3 G protein-coupled receptor associated sorting protein family member 3 gene DOID:12849 autistic disorder ISO RGD:1347976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12051150 GPRASP3 G protein-coupled receptor associated sorting protein family member 3 gene DOID:630 genetic disease ISO RGD:1347976 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051160 PIM1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:0060071 pre-malignant neoplasm ISO RGD:737516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 12051160 PIM1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:0080600 COVID-19 ISO RGD:737516 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 12051160 PIM1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:11400 pyelonephritis ISO RGD:737516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23565217 12051160 PIM1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:3042 allergic contact dermatitis ISO RGD:737516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 12051160 PIM1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:3068 glioblastoma ISO RGD:737516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23724780 12051160 PIM1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:3827 congenital diaphragmatic hernia ISO RGD:737516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25812446 12051160 PIM1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:8634 prostate carcinoma in situ ISO RGD:737516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23565217 12051160 PIM1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:9006205 Animal Disease Models ISO RGD:737516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25812446 12051160 PIM1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23565217 12051160 PIM1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:737516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 12051169 ADGRL3 adhesion G protein-coupled receptor L3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1353351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22405201 12051169 ADGRL3 adhesion G protein-coupled receptor L3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1553247 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 12051169 ADGRL3 adhesion G protein-coupled receptor L3 gene DOID:630 genetic disease ISO RGD:1353351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051169 ADGRL3 adhesion G protein-coupled receptor L3 gene DOID:9004009 Reperfusion Injury ISO RGD:620836 D RGD:9068941 20200609 RGD PMID:12225880|REF_RGD_ID:2314400 12051169 ADGRL3 adhesion G protein-coupled receptor L3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12051227 CPA4 carboxypeptidase A4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12051227 CPA4 carboxypeptidase A4 gene DOID:630 genetic disease ISO RGD:1345742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051243 GCC1 GRIP and coiled-coil domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12051243 GCC1 GRIP and coiled-coil domain containing 1 gene DOID:5062 phencyclidine abuse ISO RGD:1352654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 12051243 GCC1 GRIP and coiled-coil domain containing 1 gene DOID:630 genetic disease ISO RGD:1352654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051243 GCC1 GRIP and coiled-coil domain containing 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1352654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 12051243 GCC1 GRIP and coiled-coil domain containing 1 gene DOID:9505 cannabis abuse ISO RGD:1352654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 12051249 CRLF1 cytokine receptor like factor 1 gene DOID:0060294 cold-induced sweating syndrome ISO RGD:1322794 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cold-induced sweating syndrome 12051249 CRLF1 cytokine receptor like factor 1 gene DOID:0080329 cold-induced sweating syndrome 1 ISO RGD:1322794 D RGD:7240710 20180307 OMIM 12051249 CRLF1 cytokine receptor like factor 1 gene DOID:0080329 cold-induced sweating syndrome 1 ISO RGD:1322794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 PMID:12509788|PMID:17436251|PMID:17436252|PMID:19012339|PMID:20186812|PMID:20400119|PMID:21326283|PMID:21370513|PMID:24008591|PMID:24488861|PMID:25326637|PMID:25741868|PMID:26752647|PMID:27976805|PMID:28492532|PMID:31497877|PMID:35699517|PMID:8723066 12051249 CRLF1 cytokine receptor like factor 1 gene DOID:630 genetic disease ISO RGD:1322794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12051249 CRLF1 cytokine receptor like factor 1 gene DOID:9007653 Multiple Abnormalities susceptibility ISO RGD:1322794 D RGD:9068941 20200609 RGD Cold-induced sweating syndrome-1, OMIM:272430 PMID:12509788|REF_RGD_ID:1600970 12051249 CRLF1 cytokine receptor like factor 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1322794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12051260 PRND prion like protein doppel gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1315338 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12051260 PRND prion like protein doppel gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1315338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12051260 PRND prion like protein doppel gene DOID:630 genetic disease ISO RGD:1315338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051266 RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:731853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:20206331|PMID:22824638|PMID:24239381|PMID:25462087|PMID:28492532 12051266 RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 gene DOID:2750 glycogen storage disease IV ISO RGD:731853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type IV 12051266 RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 gene DOID:630 genetic disease ISO RGD:731853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33413275 12051266 RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 gene DOID:9003936 Cardiomegaly ISO RGD:731853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17121852 12051266 RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12051266 RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:731853 D RGD:7240710 20180130 OMIM 12051266 RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:731853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with immunodeficiency | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 without immunodeficiency PMID:16199547|PMID:17576681|PMID:18691923|PMID:23104095|PMID:2379848|PMID:23798481|PMID:23889995|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29260357|PMID:31127727|PMID:31407473|PMID:32187699|PMID:33413275|PMID:9536098 12051283 HSD17B2 hydroxysteroid 17-beta dehydrogenase 2 gene DOID:289 endometriosis ISO RGD:1353008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18815356|PMID:21232532 12051283 HSD17B2 hydroxysteroid 17-beta dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:1353008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051283 HSD17B2 hydroxysteroid 17-beta dehydrogenase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 12051283 HSD17B2 hydroxysteroid 17-beta dehydrogenase 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1353008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23200943 12051301 PIPOX pipecolic acid and sarcosine oxidase gene DOID:630 genetic disease ISO RGD:1322755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051301 PIPOX pipecolic acid and sarcosine oxidase gene DOID:906 peroxisomal disease ISO RGD:1322755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10642506 12051324 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12051324 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:0050729 neutral lipid storage disease ISO RGD:1354502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:16644682|PMID:17187067|PMID:17576681|PMID:20370797|PMID:21170305|PMID:21544567|PMID:22832386|PMID:22990388|PMID:23232698|PMID:25741868|PMID:28391974|PMID:28492532|PMID:28499397|PMID:9536098 12051324 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:0050729 neutral lipid storage disease ISO RGD:1354502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:16199547|PMID:16644682|PMID:17187067|PMID:17576681|PMID:20370797|PMID:21170305|PMID:21544567|PMID:22832386|PMID:22990388|PMID:23232698|PMID:25287355|PMID:25741868|PMID:26922712|PMID:27869069|PMID:28391974|PMID:28492532|PMID:28499397|PMID:32041611|PMID:9536098 12051324 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1354502 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12051324 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:1354502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12051324 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1354502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12051324 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:114 heart disease ISO RGD:1354502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21585347|PMID:23867907 12051324 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1354502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12051324 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:12932 endomyocardial fibrosis ISO RGD:1354502 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35218467 12051324 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1354502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12051324 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:423 myopathy ISO RGD:1354502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy 12051324 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:6000 congestive heart failure ISO RGD:1354502 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35218467 12051324 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:630 genetic disease ISO RGD:1354502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21073837|PMID:21544567|PMID:25363365|PMID:25741868|PMID:28492532 12051324 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1354502 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35218467 12051324 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1354502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12051324 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:9004438 Neutral Lipid Storage Disease with Myopathy ISO RGD:1354502 D RGD:7240710 20180130 OMIM 12051324 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:9004438 Neutral Lipid Storage Disease with Myopathy ISO RGD:1354502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neutral lipid storage disease without ichthyosis PMID:25741868 12051324 PNPLA2 patatin like phospholipase domain containing 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1354502 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35218467 12051339 DPH5 diphthamide biosynthesis 5 gene DOID:1826 epilepsy ISO RGD:1602122 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12051339 DPH5 diphthamide biosynthesis 5 gene DOID:630 genetic disease ISO RGD:1602122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051339 DPH5 diphthamide biosynthesis 5 gene DOID:9008919 Neurodevelopmental Disorder with Short Stature, Prominent Forehead, and Feeding Difficulties ISO RGD:1602122 D RGD:7240710 20221109 OMIM 12051339 DPH5 diphthamide biosynthesis 5 gene DOID:9008919 Neurodevelopmental Disorder with Short Stature, Prominent Forehead, and Feeding Difficulties ISO RGD:1602122 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties PMID:25741868|PMID:35482014 12051339 DPH5 diphthamide biosynthesis 5 gene DOID:9269 maple syrup urine disease ISO RGD:1602122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 12051359 KRTAP26-1 keratin associated protein 26-1 gene DOID:630 genetic disease ISO RGD:1603240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051364 LOC100686073 metallothionein-1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1349525 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12051364 LOC100686073 metallothionein-1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:10922 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24163136 12051364 LOC100686073 metallothionein-1 gene DOID:0060496 respiratory allergy ISO RGD:10922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085522 12051364 LOC100686073 metallothionein-1 gene DOID:0080600 COVID-19 ISO RGD:1349525 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD14 monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12051364 LOC100686073 metallothionein-1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1349525 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12051364 LOC100686073 metallothionein-1 gene DOID:10652 Alzheimer's disease ISO RGD:10922 D RGD:9068941 20200609 RGD PMID:22766972|REF_RGD_ID:10412319 12051364 LOC100686073 metallothionein-1 gene DOID:11573 listeriosis ISO RGD:10922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19576872 12051364 LOC100686073 metallothionein-1 gene DOID:1561 cognitive disorder ISO RGD:10922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18226494 12051364 LOC100686073 metallothionein-1 gene DOID:1749 squamous cell carcinoma ISO RGD:10922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16543248 12051364 LOC100686073 metallothionein-1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1349525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12051364 LOC100686073 metallothionein-1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:10922 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord (mouse) PMID:16179515|REF_RGD_ID:6484130 12051364 LOC100686073 metallothionein-1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:10922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16543248 12051364 LOC100686073 metallothionein-1 gene DOID:480 movement disease ISO RGD:10922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16216453 12051364 LOC100686073 metallothionein-1 gene DOID:630 genetic disease ISO RGD:1349525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051364 LOC100686073 metallothionein-1 gene DOID:767 muscular atrophy ISO RGD:10922 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24163136 12051364 LOC100686073 metallothionein-1 gene DOID:8466 retinal degeneration ISO RGD:10922 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:23132798|REF_RGD_ID:10412646 12051364 LOC100686073 metallothionein-1 gene DOID:8927 learning disability ISO RGD:10922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16216453 12051364 LOC100686073 metallothionein-1 gene DOID:9001981 Weight Loss ISO RGD:10922 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24163136 12051364 LOC100686073 metallothionein-1 gene DOID:9002644 Premature Aging ISO RGD:10922 D RGD:9068941 20200609 RGD PMID:18410310|REF_RGD_ID:10412323 12051364 LOC100686073 metallothionein-1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10922 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (mouse) PMID:19619133|REF_RGD_ID:6484112 12051364 LOC100686073 metallothionein-1 gene DOID:9002955 Nerve Degeneration ISO RGD:10922 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11835189 12051364 LOC100686073 metallothionein-1 gene DOID:9004484 Sepsis ISO RGD:10922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374846 12051364 LOC100686073 metallothionein-1 gene DOID:9004610 Acute Lung Injury ISO RGD:10922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16166738 12051364 LOC100686073 metallothionein-1 gene DOID:9004634 Cardiac Output, Low ISO RGD:10922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30096613 12051364 LOC100686073 metallothionein-1 gene DOID:9005873 Tongue Neoplasms ISO RGD:10922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16543248 12051364 LOC100686073 metallothionein-1 gene DOID:9007023 Prenatal Injuries ISO RGD:10922 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12514265 12051364 LOC100686073 metallothionein-1 gene DOID:9007480 Hyperoxia ISO RGD:10922 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:8110467|REF_RGD_ID:6484136 12051373 OR1L8 olfactory receptor family 1 subfamily L member 8 gene DOID:630 genetic disease ISO RGD:1351781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051377 LOC100688796 ATP synthase F(0) complex subunit B1, mitochondrial gene DOID:0080600 COVID-19 ISO RGD:736319 D RGD:9068941 20210122 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12051377 LOC100688796 ATP synthase F(0) complex subunit B1, mitochondrial gene DOID:4467 clear cell renal cell carcinoma ISO RGD:736319 D RGD:9068941 20210122 RGD PMID:28672194|REF_RGD_ID:14696810 12051377 LOC100688796 ATP synthase F(0) complex subunit B1, mitochondrial gene DOID:630 genetic disease ISO RGD:736319 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051377 LOC100688796 ATP synthase F(0) complex subunit B1, mitochondrial gene DOID:684 hepatocellular carcinoma ISO RGD:736319 D RGD:9068941 20210122 RGD associated with hepatitis C PMID:18932288|REF_RGD_ID:14696822 12051418 WNT8A Wnt family member 8A gene DOID:0060224 atrial fibrillation ISO RGD:1314861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22544366 12051418 WNT8A Wnt family member 8A gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1314861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12051418 WNT8A Wnt family member 8A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12051418 WNT8A Wnt family member 8A gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1314861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12051418 WNT8A Wnt family member 8A gene DOID:10892 hypospadias ISO RGD:1314861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:25741868 12051418 WNT8A Wnt family member 8A gene DOID:630 genetic disease ISO RGD:1314861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051418 WNT8A Wnt family member 8A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12051418 WNT8A Wnt family member 8A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12051418 WNT8A Wnt family member 8A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12051436 ZNF408 zinc finger protein 408 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1315189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial exudative vitreoretinopathy 12051436 ZNF408 zinc finger protein 408 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1315189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12051436 ZNF408 zinc finger protein 408 gene DOID:0110395 retinitis pigmentosa 72 ISO RGD:1315189 D RGD:7240710 20180130 OMIM 12051436 ZNF408 zinc finger protein 408 gene DOID:0110395 retinitis pigmentosa 72 ISO RGD:1315189 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 72 PMID:25741868|PMID:25882705|PMID:28492532 12051436 ZNF408 zinc finger protein 408 gene DOID:0111410 exudative vitreoretinopathy 6 ISO RGD:1315189 D RGD:7240710 20180130 OMIM 12051436 ZNF408 zinc finger protein 408 gene DOID:0111410 exudative vitreoretinopathy 6 ISO RGD:1315189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 6 PMID:23716654|PMID:25741868|PMID:25882705|PMID:28492532|PMID:29982478|PMID:6897033 12051436 ZNF408 zinc finger protein 408 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1315189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:23716654|PMID:27316669|PMID:28492532 12051436 ZNF408 zinc finger protein 408 gene DOID:10584 retinitis pigmentosa ISO RGD:1315189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:28095122 12051436 ZNF408 zinc finger protein 408 gene DOID:1059 intellectual disability ISO RGD:1315189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12051436 ZNF408 zinc finger protein 408 gene DOID:630 genetic disease ISO RGD:1315189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12051436 ZNF408 zinc finger protein 408 gene DOID:8501 fundus dystrophy ISO RGD:1315189 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:25882705|PMID:28492532 12051493 GNGT1 G protein subunit gamma transducin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1351801 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12051493 GNGT1 G protein subunit gamma transducin 1 gene DOID:10283 prostate cancer ISO RGD:1351801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12051493 GNGT1 G protein subunit gamma transducin 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12051493 GNGT1 G protein subunit gamma transducin 1 gene DOID:630 genetic disease ISO RGD:1351801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051505 ACKR3 atypical chemokine receptor 3 gene DOID:1059 intellectual disability ISO RGD:1343702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12051505 ACKR3 atypical chemokine receptor 3 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1343702 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34624384 12051505 ACKR3 atypical chemokine receptor 3 gene DOID:2600 laryngeal carcinoma disease_progression ISO RGD:1343702 D RGD:9068941 20220506 RGD protein:increased expression:larynx (human) PMID:16494043|REF_RGD_ID:152025548 12051505 ACKR3 atypical chemokine receptor 3 gene DOID:305 carcinoma ISO RGD:1343702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 12051505 ACKR3 atypical chemokine receptor 3 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1343702 D RGD:9068941 20230128 RGD mRNA:increased expression:kidney: PMID:29218250|REF_RGD_ID:155804290 12051505 ACKR3 atypical chemokine receptor 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:1343702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12051505 ACKR3 atypical chemokine receptor 3 gene DOID:557 kidney disease ISO RGD:1343702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22880115 12051505 ACKR3 atypical chemokine receptor 3 gene DOID:630 genetic disease ISO RGD:1343702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051505 ACKR3 atypical chemokine receptor 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1343702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 12051505 ACKR3 atypical chemokine receptor 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1343702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 12051505 ACKR3 atypical chemokine receptor 3 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1343702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12051505 ACKR3 atypical chemokine receptor 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12051505 ACKR3 atypical chemokine receptor 3 gene DOID:9002297 OCULOMOTOR-ABDUCENS SYNKINESIS ISO RGD:1343702 D RGD:7240710 20210414 OMIM 12051505 ACKR3 atypical chemokine receptor 3 gene DOID:9002297 OCULOMOTOR-ABDUCENS SYNKINESIS ISO RGD:1343702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculomotor-abducens synkinesis PMID:31211835 12051505 ACKR3 atypical chemokine receptor 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1343702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 12051524 AFF4 ALF transcription elongation factor 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1601873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12051524 AFF4 ALF transcription elongation factor 4 gene DOID:0080006 bone development disease ISO RGD:1601873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 12051524 AFF4 ALF transcription elongation factor 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601873 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12051524 AFF4 ALF transcription elongation factor 4 gene DOID:1561 cognitive disorder ISO RGD:1601873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 12051524 AFF4 ALF transcription elongation factor 4 gene DOID:1682 congenital heart disease ISO RGD:1601873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 12051524 AFF4 ALF transcription elongation factor 4 gene DOID:630 genetic disease ISO RGD:1601873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441 12051524 AFF4 ALF transcription elongation factor 4 gene DOID:850 lung disease ISO RGD:1601873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 12051524 AFF4 ALF transcription elongation factor 4 gene DOID:8923 skin melanoma disease_progression ISO RGD:1601873 D RGD:9068941 20221028 RGD PMID:33417923|REF_RGD_ID:155631266 12051524 AFF4 ALF transcription elongation factor 4 gene DOID:9001487 Facies ISO RGD:1601873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 12051524 AFF4 ALF transcription elongation factor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12051524 AFF4 ALF transcription elongation factor 4 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1311694 D RGD:9068941 20221028 RGD PMID:31466050|REF_RGD_ID:155631268 12051524 AFF4 ALF transcription elongation factor 4 gene DOID:9006257 Growth Disorders ISO RGD:1601873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 12051524 AFF4 ALF transcription elongation factor 4 gene DOID:9006799 CHOPS Syndrome ISO RGD:1601873 D RGD:7240710 20180130 OMIM 12051524 AFF4 ALF transcription elongation factor 4 gene DOID:9006799 CHOPS Syndrome ISO RGD:1601873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome PMID:17576681|PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441|PMID:34782754|PMID:9536098 12051524 AFF4 ALF transcription elongation factor 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601873 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12051524 AFF4 ALF transcription elongation factor 4 gene DOID:9007653 Multiple Abnormalities ISO RGD:1601873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 12051524 AFF4 ALF transcription elongation factor 4 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1601873 D RGD:9068941 20221028 RGD PMID:35223479|REF_RGD_ID:155631267 12051524 AFF4 ALF transcription elongation factor 4 gene DOID:9970 obesity ISO RGD:1601873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 12051550 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:0060041 autism spectrum disorder ISO RGD:1342489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23160955|PMID:25741868|PMID:28492532|PMID:30504930 12051550 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:0060261 congenital ptosis ISO RGD:1342489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital ptosis PMID:25741868|PMID:32267004 12051550 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:0070053 autosomal dominant intellectual developmental disorder 23 ISO RGD:1342489 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 23 PMID:25741868 12051550 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1342489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11528500|PMID:23105016|PMID:28492532 12051550 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:1059 intellectual disability ISO RGD:1342489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12051550 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:12849 autistic disorder ISO RGD:1342489 D RGD:8554872 20220517 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: CHD8-Related Disorder | ClinVar Annotator: match by term: CHD8-Related Disorders PMID:25741868 12051550 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1342489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12051550 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:630 genetic disease ISO RGD:1342489 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18378692|PMID:21447119|PMID:22083958|PMID:22495306|PMID:23160955|PMID:23835524|PMID:24267886|PMID:24998929|PMID:25741868|PMID:26789910|PMID:27824329|PMID:27959697|PMID:28475857|PMID:28492532|PMID:28600779|PMID:31130284|PMID:31311581|PMID:31721432|PMID:32309624|PMID:32801363|PMID:32951261|PMID:33004838|PMID:33352116|PMID:9536098 12051550 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:77 gastrointestinal system disease ISO RGD:1342489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24998929 12051550 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:9000443 Intellectual Developmental Disorder with Autism and Macrocephaly ISO RGD:1342489 D RGD:7240710 20220518 OMIM 12051550 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:9000443 Intellectual Developmental Disorder with Autism and Macrocephaly ISO RGD:1342489 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, 18 PMID:18414213|PMID:22495309|PMID:23160955|PMID:24998929|PMID:25326635|PMID:25326637|PMID:25363760|PMID:25741868|PMID:25741869|PMID:26789910|PMID:27824329|PMID:27959697|PMID:28191890|PMID:28492532|PMID:28600779|PMID:28714951|PMID:29389947|PMID:30504930|PMID:30670789|PMID:31001818|PMID:31130284|PMID:31721432|PMID:31980904|PMID:31981491|PMID:32309624|PMID:34906502 12051550 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:9001487 Facies ISO RGD:1342489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30670789 12051550 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:9003816 Macrocephaly ISO RGD:1342489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868|PMID:32267004 12051550 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342489 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23160955|PMID:25741868 12051550 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1342489 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12051550 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1342489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12051550 CHD8 chromodomain helicase DNA binding protein 8 gene DOID:9008582 Developmental Disease ISO RGD:1342489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12051610 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30763456|PMID:9662404 12051610 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:733363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 12051610 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 ISO RGD:733363 D RGD:7240710 20180307 OMIM 12051610 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 ISO RGD:733363 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant PMID:11134129|PMID:11344206|PMID:12483305|PMID:12679457|PMID:12788847|PMID:14715854|PMID:15126534|PMID:16611713|PMID:16757525|PMID:16954160|PMID:19571553|PMID:20030467|PMID:22463955|PMID:24033266|PMID:24088041|PMID:25251996|PMID:25741868|PMID:27780983|PMID:28492532|PMID:28804203|PMID:30763456|PMID:31690835|PMID:9662404 12051610 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:12849 autistic disorder ISO RGD:733363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12051610 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:733363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21321305 12051610 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:2661 myoepithelioma ISO RGD:733363 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12051610 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:289 endometriosis ISO RGD:733363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12051610 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:4479 pseudohypoaldosteronism ISO RGD:733363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism 12051610 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:5844 myocardial infarction ISO RGD:733363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16413583|PMID:17587755 12051610 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:6000 congestive heart failure ISO RGD:733363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15722665|PMID:21321305 12051610 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:630 genetic disease ISO RGD:733363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051610 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:733363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21321305 12051610 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:9002298 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy ISO RGD:733363 D RGD:7240710 20180130 OMIM 12051610 NR3C2 nuclear receptor subfamily 3 group C member 2 gene DOID:9002298 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy ISO RGD:733363 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy | ClinVar Annotator: match by term: Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy PMID:10884226|PMID:15126534|PMID:16757525|PMID:22463955|PMID:25741868|PMID:28492532 12051629 CSDE1 cold shock domain containing E1 gene DOID:0080690 RASopathy ISO RGD:1607084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12051629 CSDE1 cold shock domain containing E1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1607084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 12051629 CSDE1 cold shock domain containing E1 gene DOID:630 genetic disease ISO RGD:1607084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12051657 MADD MAP kinase activating death domain gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:732838 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type PMID:25741868|PMID:32761064 12051657 MADD MAP kinase activating death domain gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:732838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12051657 MADD MAP kinase activating death domain gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:732838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 12051657 MADD MAP kinase activating death domain gene DOID:1059 intellectual disability ISO RGD:732838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12051657 MADD MAP kinase activating death domain gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732838 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12051657 MADD MAP kinase activating death domain gene DOID:224 transient cerebral ischemia ISO RGD:619922 D RGD:9068941 20200609 RGD PMID:12625816|REF_RGD_ID:9588641 12051657 MADD MAP kinase activating death domain gene DOID:630 genetic disease ISO RGD:732838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28118382 12051657 MADD MAP kinase activating death domain gene DOID:9003974 DEEAH Syndrome ISO RGD:732838 D RGD:7240710 20201118 OMIM 12051657 MADD MAP kinase activating death domain gene DOID:9003974 DEEAH Syndrome ISO RGD:732838 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deeah syndrome PMID:25741868|PMID:28492532|PMID:32761064 12051657 MADD MAP kinase activating death domain gene DOID:9004709 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA ISO RGD:732838 D RGD:7240710 20201216 OMIM 12051657 MADD MAP kinase activating death domain gene DOID:9004709 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA ISO RGD:732838 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia PMID:25741868|PMID:28940097|PMID:29302074|PMID:32761064 12051657 MADD MAP kinase activating death domain gene DOID:9352 type 2 diabetes mellitus ISO RGD:737590 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 12051738 PGRMC2 progesterone receptor membrane component 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1318787 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 12051738 PGRMC2 progesterone receptor membrane component 2 gene DOID:630 genetic disease ISO RGD:1318787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051744 PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase gene DOID:0080016 spina bifida ISO RGD:733720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16256389 12051744 PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase gene DOID:10652 Alzheimer's disease ISO RGD:733720 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex: PMID:8736634|REF_RGD_ID:10448277 12051744 PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase gene DOID:3069 malignant astrocytoma ISO RGD:733720 D RGD:9068941 20200609 RGD protein:decreased expression,decreased activity:brain: PMID:15857672|REF_RGD_ID:10448283 12051744 PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase gene DOID:3070 high grade glioma ISO RGD:3268 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain: PMID:15857672|REF_RGD_ID:10448283 12051744 PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase gene DOID:6000 congestive heart failure ISO RGD:733721 D RGD:9068941 20200609 RGD protein:decreased expression:heart: PMID:23647599|REF_RGD_ID:10448278 12051744 PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase gene DOID:630 genetic disease ISO RGD:733720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051744 PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase gene DOID:9008752 Aortic Injuries ISO RGD:3268 D RGD:9068941 20200609 RGD PMID:9188065|REF_RGD_ID:10448925 12051759 ATG7 autophagy related 7 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1558502 D RGD:9068941 20220825 MouseDO OMIM:614286 12051759 ATG7 autophagy related 7 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1312481 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: NAFLD1 PMID:35405176 12051759 ATG7 autophagy related 7 gene DOID:10763 hypertension ISO RGD:1304817 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:24119246|REF_RGD_ID:11557985 12051759 ATG7 autophagy related 7 gene DOID:1289 neurodegenerative disease ISO RGD:1304817 D RGD:9068941 20200609 RGD PMID:26208597|REF_RGD_ID:11557995 12051759 ATG7 autophagy related 7 gene DOID:14330 Parkinson's disease ISO RGD:1558502 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 12051759 ATG7 autophagy related 7 gene DOID:2355 anemia ISO RGD:1312481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 12051759 ATG7 autophagy related 7 gene DOID:3070 high grade glioma treatment ISO RGD:1304817 D RGD:9068941 20200609 RGD PMID:25542083|REF_RGD_ID:11557994 12051759 ATG7 autophagy related 7 gene DOID:5426 primary ovarian insufficiency ISO RGD:1312481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12051759 ATG7 autophagy related 7 gene DOID:5844 myocardial infarction ISO RGD:1304817 D RGD:9068941 20200609 RGD mRNA:increased expression:plantaris PMID:24427319|REF_RGD_ID:11557988 12051759 ATG7 autophagy related 7 gene DOID:607 paraplegia ISO RGD:1304817 D RGD:9068941 20200609 RGD PMID:23055316|REF_RGD_ID:11557990 12051759 ATG7 autophagy related 7 gene DOID:614 lymphopenia ISO RGD:1312481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 12051759 ATG7 autophagy related 7 gene DOID:630 genetic disease ISO RGD:1312481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051759 ATG7 autophagy related 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1312481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29191453 12051759 ATG7 autophagy related 7 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1304817 D RGD:9068941 20200609 RGD protein:increased expression:axon PMID:25040536|REF_RGD_ID:11553820 12051759 ATG7 autophagy related 7 gene DOID:9001981 Weight Loss ISO RGD:1312481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 12051759 ATG7 autophagy related 7 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1312481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28408137 12051759 ATG7 autophagy related 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12051759 ATG7 autophagy related 7 gene DOID:9005369 Hepatomegaly ISO RGD:1312481 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26483381 12051759 ATG7 autophagy related 7 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1558502 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium PMID:24874076|REF_RGD_ID:11557993 12051759 ATG7 autophagy related 7 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1304817 D RGD:9068941 20200609 RGD PMID:24993523|REF_RGD_ID:11557996 12051759 ATG7 autophagy related 7 gene DOID:9005749 Necrosis ISO RGD:1312481 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21081844 12051759 ATG7 autophagy related 7 gene DOID:9007874 Liver Failure ISO RGD:1312481 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26483381 12051759 ATG7 autophagy related 7 gene DOID:9008617 Lethargy ISO RGD:1312481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 12051759 ATG7 autophagy related 7 gene DOID:9009088 Autosomal Recessive Spinocerebellar Ataxia 31 ISO RGD:1312481 D RGD:7240710 20210728 OMIM 12051759 ATG7 autophagy related 7 gene DOID:9009088 Autosomal Recessive Spinocerebellar Ataxia 31 ISO RGD:1312481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 31 PMID:34161705 12051759 ATG7 autophagy related 7 gene DOID:9074 systemic lupus erythematosus ISO RGD:1558502 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12051791 MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1322871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12051791 MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1322871 D RGD:9068941 20220708 RGD protein:increased expression:intrahepatic bile duct (human) PMID:30377796|REF_RGD_ID:152998946 12051791 MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:630 genetic disease ISO RGD:1322871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051818 CA2 carbonic anhydrase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:737257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 12051818 CA2 carbonic anhydrase 2 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:737257 D RGD:9068941 20220916 RGD PMID:27688658|REF_RGD_ID:155226860 12051818 CA2 carbonic anhydrase 2 gene DOID:0110941 autosomal recessive osteopetrosis 3 ISO RGD:737257 D RGD:7240710 20180130 OMIM 12051818 CA2 carbonic anhydrase 2 gene DOID:0110941 autosomal recessive osteopetrosis 3 ISO RGD:737257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis PMID:12566520|PMID:1301935|PMID:15300855|PMID:1542674|PMID:18060825|PMID:1928091|PMID:25741868|PMID:28492532|PMID:4624444|PMID:5041390|PMID:7627193|PMID:8127074|PMID:8128957|PMID:8834238 12051818 CA2 carbonic anhydrase 2 gene DOID:11476 osteoporosis ISO RGD:737257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12051818 CA2 carbonic anhydrase 2 gene DOID:13533 osteopetrosis susceptibility ISO RGD:737257 D RGD:9068941 20200609 RGD DNA:splice-site mutation PMID:1301935|REF_RGD_ID:1600698 12051818 CA2 carbonic anhydrase 2 gene DOID:299 adenocarcinoma ISO RGD:737257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 12051818 CA2 carbonic anhydrase 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12051818 CA2 carbonic anhydrase 2 gene DOID:3883 Lynch syndrome ISO RGD:737257 D RGD:9068941 20220916 RGD protein:decreased expression:colorectum PMID:17855694|REF_RGD_ID:155226867 12051818 CA2 carbonic anhydrase 2 gene DOID:630 genetic disease ISO RGD:737257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12051818 CA2 carbonic anhydrase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:737257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12051818 CA2 carbonic anhydrase 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:737257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 12051818 CA2 carbonic anhydrase 2 gene DOID:9002315 Kidney Calculi ISO RGD:2240 D RGD:9068941 20200609 RGD PMID:10977795|REF_RGD_ID:1600710 12051818 CA2 carbonic anhydrase 2 gene DOID:9006205 Animal Disease Models ISO RGD:732618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15816485 12051818 CA2 carbonic anhydrase 2 gene DOID:9446 cholangitis ISO RGD:732618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15816485 12051829 JCAD junctional cadherin 5 associated gene DOID:3393 coronary artery disease ISO RGD:1346091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378988 12051829 JCAD junctional cadherin 5 associated gene DOID:630 genetic disease ISO RGD:1346091 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051847 UCMA upper zone of growth plate and cartilage matrix associated gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1350104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12051847 UCMA upper zone of growth plate and cartilage matrix associated gene DOID:12849 autistic disorder ISO RGD:1350104 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism 12051847 UCMA upper zone of growth plate and cartilage matrix associated gene DOID:630 genetic disease ISO RGD:1350104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051865 UBE2Q2 ubiquitin conjugating enzyme E2 Q2 gene DOID:2717 Bloom syndrome ISO RGD:1605308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12051865 UBE2Q2 ubiquitin conjugating enzyme E2 Q2 gene DOID:5419 schizophrenia ISO RGD:1605308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12051865 UBE2Q2 ubiquitin conjugating enzyme E2 Q2 gene DOID:630 genetic disease ISO RGD:1605308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051865 UBE2Q2 ubiquitin conjugating enzyme E2 Q2 gene DOID:9256 colorectal cancer ISO RGD:1605308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12051886 FGGY FGGY carbohydrate kinase domain containing gene DOID:1059 intellectual disability ISO RGD:1605365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12051886 FGGY FGGY carbohydrate kinase domain containing gene DOID:630 genetic disease ISO RGD:1605365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12051886 FGGY FGGY carbohydrate kinase domain containing gene DOID:9004657 Weight Gain ISO RGD:1605365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29220483 12051886 FGGY FGGY carbohydrate kinase domain containing gene DOID:9970 obesity ISO RGD:1605365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29220483 12051958 ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) gene DOID:0070243 primary coenzyme Q10 deficiency 6 ISO RGD:1343601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial steroid-resistant nephrotic syndrome with sensorineural deafness PMID:21540551|PMID:24140869|PMID:25741868|PMID:28044327|PMID:28117207|PMID:28173653|PMID:28492532|PMID:30232548|PMID:30584653|PMID:30682496|PMID:31937884 12051958 ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1343601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 12051958 ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) gene DOID:1059 intellectual disability ISO RGD:1343601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12051958 ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) gene DOID:630 genetic disease ISO RGD:1343601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12052003 PNPT1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0050974 spinocerebellar ataxia type 25 ISO RGD:1317494 D RGD:7240710 20220720 OMIM 12052003 PNPT1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0050974 spinocerebellar ataxia type 25 ISO RGD:1317494 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 25 PMID:11080643|PMID:14705117|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|PMID:28492532|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32313153|PMID:35411967 12052003 PNPT1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0110521 autosomal recessive nonsyndromic deafness 70 ISO RGD:1317494 D RGD:7240710 20180130 OMIM 12052003 PNPT1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0110521 autosomal recessive nonsyndromic deafness 70 ISO RGD:1317494 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 70 PMID:11080643|PMID:23084290|PMID:23084291|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26467025|PMID:26633545|PMID:27759031|PMID:28492532|PMID:28594066|PMID:28708278|PMID:30046113|PMID:30244537|PMID:30831263|PMID:31752325|PMID:32313153 12052003 PNPT1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0111467 combined oxidative phosphorylation deficiency 13 ISO RGD:1317494 D RGD:7240710 20180130 OMIM 12052003 PNPT1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0111467 combined oxidative phosphorylation deficiency 13 ISO RGD:1317494 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 13 PMID:11080643|PMID:23084291|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|PMID:27759031|PMID:28492532|PMID:28594066|PMID:28645153|PMID:30046113|PMID:30244537|PMID:30831263|PMID:31752325|PMID:32313153|PMID:33158637|PMID:33199448|PMID:33812062 12052003 PNPT1 polyribonucleotide nucleotidyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1317494 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12052003 PNPT1 polyribonucleotide nucleotidyltransferase 1 gene DOID:630 genetic disease ISO RGD:1317494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11080643|PMID:23084291|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|PMID:27759031|PMID:28492532|PMID:28645153|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32313153 12052003 PNPT1 polyribonucleotide nucleotidyltransferase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1317494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12052003 PNPT1 polyribonucleotide nucleotidyltransferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:11080643|PMID:25326635|PMID:25457163|PMID:25741868|PMID:28492532|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32313153 12052003 PNPT1 polyribonucleotide nucleotidyltransferase 1 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1317494 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.1424A>G(p.E475G)(human) PMID:23084290|REF_RGD_ID:11554169 12052003 PNPT1 polyribonucleotide nucleotidyltransferase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1317494 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12052036 FOXP2 forkhead box P2 gene DOID:0060041 autism spectrum disorder ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :multiple PMID:24356376|REF_RGD_ID:11535982 12052036 FOXP2 forkhead box P2 gene DOID:0060041 autism spectrum disorder ISO RGD:1351861 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12052036 FOXP2 forkhead box P2 gene DOID:0060135 apraxia ISO RGD:1351861 D RGD:9068941 20221208 CTD CTD Direct Evidence: marker/mechanism PMID:17033973|PMID:27120335 12052036 FOXP2 forkhead box P2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1351861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12052036 FOXP2 forkhead box P2 gene DOID:0111275 speech-language disorder-1 ISO RGD:1351861 D RGD:7240710 20180130 OMIM 12052036 FOXP2 forkhead box P2 gene DOID:0111275 speech-language disorder-1 ISO RGD:1351861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Childhood apraxia of speech PMID:11586359|PMID:15877281|PMID:16470794|PMID:16984964|PMID:17033973|PMID:17330859|PMID:20858596|PMID:22105961|PMID:22106036|PMID:22144704|PMID:22434823|PMID:22766611|PMID:2332125|PMID:23918746|PMID:25232744|PMID:25741868|PMID:27336128|PMID:27572252|PMID:27933109|PMID:28492532|PMID:28708303 12052036 FOXP2 forkhead box P2 gene DOID:0111275 speech-language disorder-1 no_association ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.P215A (human) PMID:19352412|REF_RGD_ID:11536000 12052036 FOXP2 forkhead box P2 gene DOID:1059 intellectual disability ISO RGD:1351861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12052036 FOXP2 forkhead box P2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs1229761, rs12533005 (human) PMID:22504457|REF_RGD_ID:11535980 12052036 FOXP2 forkhead box P2 gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:22504457|REF_RGD_ID:11535980 12052036 FOXP2 forkhead box P2 gene DOID:12849 autistic disorder ISO RGD:1351861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108192|PMID:17033973 12052036 FOXP2 forkhead box P2 gene DOID:12849 autistic disorder ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNP:intron PMID:15737702|REF_RGD_ID:11535991 12052036 FOXP2 forkhead box P2 gene DOID:12849 autistic disorder ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype PMID:15108192|REF_RGD_ID:11535986 12052036 FOXP2 forkhead box P2 gene DOID:12849 autistic disorder no_association ISO RGD:1351861 D RGD:9068941 20200609 RGD PMID:15998549|REF_RGD_ID:11535984 12052036 FOXP2 forkhead box P2 gene DOID:12849 autistic disorder no_association ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple PMID:12655497|REF_RGD_ID:11535985 12052036 FOXP2 forkhead box P2 gene DOID:12849 autistic disorder no_association ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:repeat, deletion PMID:12116195|REF_RGD_ID:11536001 12052036 FOXP2 forkhead box P2 gene DOID:14681 Silver-Russell syndrome ISO RGD:1351861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17033973 12052036 FOXP2 forkhead box P2 gene DOID:1470 major depressive disorder ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNP: :rs10447760 (human) PMID:22404659|REF_RGD_ID:11535994 12052036 FOXP2 forkhead box P2 gene DOID:1470 major depressive disorder no_association ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:22404659|REF_RGD_ID:11535994 12052036 FOXP2 forkhead box P2 gene DOID:1749 squamous cell carcinoma ISO RGD:1351861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 12052036 FOXP2 forkhead box P2 gene DOID:3910 lung adenocarcinoma ISO RGD:1351861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 12052036 FOXP2 forkhead box P2 gene DOID:4186 articulation disorder ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:5' utr:rs1852469, rs2396722 (human) PMID:20923434|REF_RGD_ID:11535989 12052036 FOXP2 forkhead box P2 gene DOID:4186 articulation disorder no_association ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs::rs923875, rs17137124, rs1456031 (human) PMID:20923434|REF_RGD_ID:11535989 12052036 FOXP2 forkhead box P2 gene DOID:4428 dyslexia ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNP: :rs12533005 (human) PMID:21897444|REF_RGD_ID:11535997 12052036 FOXP2 forkhead box P2 gene DOID:4428 dyslexia no_association ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:21897444|REF_RGD_ID:11535997 12052036 FOXP2 forkhead box P2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12052036 FOXP2 forkhead box P2 gene DOID:5419 schizophrenia ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNP: :rs10447760 (human) PMID:22404659|REF_RGD_ID:11535994 12052036 FOXP2 forkhead box P2 gene DOID:5419 schizophrenia ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :multiple PMID:16538183|REF_RGD_ID:11535988 12052036 FOXP2 forkhead box P2 gene DOID:5419 schizophrenia no_association ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:22404659|REF_RGD_ID:11535994 12052036 FOXP2 forkhead box P2 gene DOID:630 genetic disease ISO RGD:1351861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15877281|PMID:16984964|PMID:22434823|PMID:25232744|PMID:25741868|PMID:27336128|PMID:27572252|PMID:27933109|PMID:28492532 12052036 FOXP2 forkhead box P2 gene DOID:9001488 Human Influenza ISO RGD:1615752 D RGD:9068941 20200609 RGD PMID:18248790|REF_RGD_ID:11536002 12052036 FOXP2 forkhead box P2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12052036 FOXP2 forkhead box P2 gene DOID:9005466 Language Development Disorders ISO RGD:1351861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27120335 12052036 FOXP2 forkhead box P2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17033973 12052036 FOXP2 forkhead box P2 gene DOID:93 language disorder ISO RGD:1351861 D RGD:9068941 20200609 RGD associated with Schizophrenia;DNA:SNP: :rs2253478 (human) PMID:20649982|REF_RGD_ID:11535993 12052066 MNX1 motor neuron and pancreas homeobox 1 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1344566 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:22354285|PMID:22683912|PMID:23370340|PMID:24095820|PMID:28284480|PMID:28492532|PMID:28588853|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32677110 12052066 MNX1 motor neuron and pancreas homeobox 1 gene DOID:0111546 Currarino syndrome ISO RGD:1344566 D RGD:7240710 20180130 OMIM 12052066 MNX1 motor neuron and pancreas homeobox 1 gene DOID:0111546 Currarino syndrome ISO RGD:1344566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:10631160|PMID:10749657|PMID:11528505|PMID:16906559|PMID:18449898|PMID:24095820|PMID:25741868|PMID:28492532|PMID:29401559|PMID:32571425|PMID:33836786|PMID:7550324|PMID:9843207 12052066 MNX1 motor neuron and pancreas homeobox 1 gene DOID:12849 autistic disorder ISO RGD:1344566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12052066 MNX1 motor neuron and pancreas homeobox 1 gene DOID:630 genetic disease ISO RGD:1344566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29401559 12052074 CGREF1 cell growth regulator with EF-hand domain 1 gene DOID:0111680 essential fructosuria ISO RGD:1353373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential fructosuria PMID:28492532 12052074 CGREF1 cell growth regulator with EF-hand domain 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1353373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12052074 CGREF1 cell growth regulator with EF-hand domain 1 gene DOID:630 genetic disease ISO RGD:1353373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12052074 CGREF1 cell growth regulator with EF-hand domain 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1353373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12052088 TPP1 tripeptidyl peptidase 1 gene DOID:0080059 autosomal recessive spinocerebellar ataxia 7 ISO RGD:1603717 D RGD:7240710 20180130 OMIM 12052088 TPP1 tripeptidyl peptidase 1 gene DOID:0080059 autosomal recessive spinocerebellar ataxia 7 ISO RGD:1603717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 7 PMID:10330339|PMID:10862088|PMID:11339651|PMID:12376936|PMID:15520412|PMID:16199547|PMID:17576681|PMID:18684116|PMID:20340139|PMID:21990111|PMID:22612257|PMID:22752289|PMID:23266810|PMID:23418007|PMID:23539563|PMID:25356970|PMID:25741868|PMID:26224725|PMID:26467025|PMID:28335910|PMID:28492532|PMID:30771299|PMID:31283065|PMID:31489614|PMID:32329550|PMID:32855042|PMID:34126256|PMID:9295267|PMID:9536098|PMID:9788728 12052088 TPP1 tripeptidyl peptidase 1 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1603717 D RGD:7240710 20180130 OMIM 12052088 TPP1 tripeptidyl peptidase 1 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1603717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11462245|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29655203|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:9295267|PMID:9536098|PMID:9788728 12052088 TPP1 tripeptidyl peptidase 1 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1603717 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:9295267|PMID:9536098|PMID:9788728 12052088 TPP1 tripeptidyl peptidase 1 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1603717 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28165011|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29631617|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:34849271|PMID:9295267|PMID:9536098|PMID:9788728 12052088 TPP1 tripeptidyl peptidase 1 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1603717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11462245|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28165011|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29631617|PMID:29655203|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:30831263|PMID:31059981|PMID:31139143|PMID:31283065|PMID:31489614|PMID:31589614|PMID:31741823|PMID:32005694|PMID:32146219|PMID:32329550|PMID:32580858|PMID:32855042|PMID:33348105|PMID:33377563|PMID:34126256|PMID:34849271|PMID:35314707|PMID:9295267|PMID:9536098|PMID:9788728 12052088 TPP1 tripeptidyl peptidase 1 gene DOID:1059 intellectual disability ISO RGD:1603717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12052088 TPP1 tripeptidyl peptidase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1603717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10320038 12052088 TPP1 tripeptidyl peptidase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10330339|PMID:10356316|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11071145|PMID:11339651|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20340139|PMID:21990111|PMID:22245569|PMID:22612257|PMID:22832778|PMID:23266810|PMID:23418007|PMID:23539563|PMID:24033266|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:28335910|PMID:28464005|PMID:28492532|PMID:29056246|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31216804|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:9295267|PMID:9536098|PMID:9788728 12052088 TPP1 tripeptidyl peptidase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603717 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10330339|PMID:10356316|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11339651|PMID:11589013|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:21990111|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26143525|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27146152|PMID:27407112|PMID:27553520|PMID:28165011|PMID:28335910|PMID:28464005|PMID:28492532|PMID:29631617|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31139143|PMID:31283065|PMID:31489614|PMID:31589614|PMID:31741823|PMID:32146219|PMID:32329550|PMID:33348105|PMID:33377563|PMID:35314707|PMID:9295267|PMID:9536098|PMID:9788728 12052088 TPP1 tripeptidyl peptidase 1 gene DOID:1826 epilepsy ISO RGD:1603717 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:10330339|PMID:18414213|PMID:19038966|PMID:21990111|PMID:22752289|PMID:22832778|PMID:23266810|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25741868|PMID:26467025|PMID:27553520|PMID:27776828|PMID:28492532|PMID:28717666|PMID:31283065|PMID:31489614|PMID:34849271 12052088 TPP1 tripeptidyl peptidase 1 gene DOID:1826 epilepsy ISO RGD:1603717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26467025|PMID:28492532|PMID:31283065 12052088 TPP1 tripeptidyl peptidase 1 gene DOID:1932 Angelman syndrome ISO RGD:1603717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:10330339|PMID:21990111|PMID:25741868|PMID:28492532|PMID:30792901 12052088 TPP1 tripeptidyl peptidase 1 gene DOID:630 genetic disease ISO RGD:1603717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10330339|PMID:10356316|PMID:10665500|PMID:11017954|PMID:11071145|PMID:11339651|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:15317752|PMID:15520412|PMID:16199547|PMID:16782851|PMID:16814585|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19201763|PMID:19793312|PMID:20301601|PMID:20340139|PMID:21990111|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25356970|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27604308|PMID:27776828|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28717666|PMID:30541466|PMID:31283065|PMID:31489614|PMID:32329550|PMID:34849271|PMID:9295267|PMID:9536098|PMID:9788728 12052088 TPP1 tripeptidyl peptidase 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1603717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:25741868|PMID:26467025|PMID:28492532 12052088 TPP1 tripeptidyl peptidase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1603717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12052088 TPP1 tripeptidyl peptidase 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1603717 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:10330339|PMID:11017954|PMID:11071145|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12796825|PMID:12950156|PMID:15317752|PMID:16782851|PMID:16814585|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18473686|PMID:18684116|PMID:19201763|PMID:19793312|PMID:20301601|PMID:21990111|PMID:22245569|PMID:23266810|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26467025|PMID:26795593|PMID:27407112|PMID:27553520|PMID:28464005|PMID:28492532|PMID:9295267|PMID:9788728 12052103 SCUBE2 signal peptide, CUB domain and EGF like domain containing 2 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1352842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 12052103 SCUBE2 signal peptide, CUB domain and EGF like domain containing 2 gene DOID:630 genetic disease ISO RGD:1352842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12052140 PIK3IP1 phosphoinositide-3-kinase interacting protein 1 gene DOID:630 genetic disease ISO RGD:1605305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12052140 PIK3IP1 phosphoinositide-3-kinase interacting protein 1 gene DOID:9775 diastolic heart failure ISO RGD:1605305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12052158 CAMK2N2 calcium/calmodulin dependent protein kinase II inhibitor 2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:732268 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12052158 CAMK2N2 calcium/calmodulin dependent protein kinase II inhibitor 2 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:732268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12052158 CAMK2N2 calcium/calmodulin dependent protein kinase II inhibitor 2 gene DOID:0111546 Currarino syndrome ISO RGD:732268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12052164 PRIM1 DNA primase subunit 1 gene DOID:0050569 Seckel syndrome ISO RGD:1348091 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Microcephalic primordial dwarfism PMID:33060134 12052164 PRIM1 DNA primase subunit 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1348091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12052164 PRIM1 DNA primase subunit 1 gene DOID:630 genetic disease ISO RGD:1348091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12052164 PRIM1 DNA primase subunit 1 gene DOID:9004216 PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME ISO RGD:1348091 D RGD:7240710 20221221 OMIM 12052164 PRIM1 DNA primase subunit 1 gene DOID:9004216 PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME ISO RGD:1348091 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Primordial dwarfism-immunodeficiency-lipodystrophy syndrome PMID:33060134 12052181 F7 coagulation factor VII gene DOID:0080941 acquired angioedema disease_progression ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:9129025|REF_RGD_ID:11565081 12052181 F7 coagulation factor VII gene DOID:10763 hypertension ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:10450539|REF_RGD_ID:2312402 12052181 F7 coagulation factor VII gene DOID:10763 hypertension ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:8123879|REF_RGD_ID:2312412 12052181 F7 coagulation factor VII gene DOID:10763 hypertension ISO RGD:628678 D RGD:9068941 20200609 RGD protein:increased activity:plasma (rat) PMID:812575|REF_RGD_ID:2312323 12052181 F7 coagulation factor VII gene DOID:11247 disseminated intravascular coagulation ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16159073 12052181 F7 coagulation factor VII gene DOID:1168 familial hyperlipidemia ISO RGD:628678 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:11776312|REF_RGD_ID:2312300 12052181 F7 coagulation factor VII gene DOID:1247 blood coagulation disease ISO RGD:1345586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of coagulation PMID:25741868|PMID:28492532|PMID:31064749|PMID:8844208 12052181 F7 coagulation factor VII gene DOID:1459 hypothyroidism ISO RGD:628678 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:989968|REF_RGD_ID:2312322 12052181 F7 coagulation factor VII gene DOID:14735 hereditary angioedema disease_progression ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:9129025|REF_RGD_ID:11565081 12052181 F7 coagulation factor VII gene DOID:1588 thrombocytopenia treatment ISO RGD:1345586 D RGD:9068941 20200609 RGD human protein in a rat model PMID:19175492|REF_RGD_ID:11049531 12052181 F7 coagulation factor VII gene DOID:1612 breast cancer ISO RGD:1345586 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:19996301|REF_RGD_ID:11049547 12052181 F7 coagulation factor VII gene DOID:2213 hemorrhagic disease ISO RGD:1345586 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10862079|PMID:11092214|PMID:11931672|PMID:14521598|PMID:15456489|PMID:15735798|PMID:15741795|PMID:18282149|PMID:18976247|PMID:22180436|PMID:24533960|PMID:25582404|PMID:25741868|PMID:27227566|PMID:28492532|PMID:29246447|PMID:29618153|PMID:31064749|PMID:7919338|PMID:7981691 12052181 F7 coagulation factor VII gene DOID:2215 factor VII deficiency IAGP D RGD:12801476 20230222 OMIA Factor VII deficiency PMID:5045961|PMID:1788825|PMID:8128434|PMID:9196814|PMID:2896576|PMID:2870866|PMID:6469849|PMID:3436375|PMID:5416591|PMID:6075264|PMID:16961583|PMID:17939552|PMID:19712579|PMID:19293459|PMID:4449220|PMID:4830986|PMID:5527820|PMID:14477610|PMID:1799659|PMID:3207628|PMID:5027610|PMID:5677303|PMID:21216638|PMID:22108258|PMID:3282382|PMID:4604529|PMID:27525650|PMID:29035661|PMID:30661469|PMID:34544496|PMID:35949113|PMID:36780177 12052181 F7 coagulation factor VII gene DOID:2215 factor VII deficiency ISO RGD:1345586 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital factor VII deficiency | ClinVar Annotator: match by term: Factor VII deficiency PMID:10554827|PMID:10739380|PMID:10862079|PMID:10959697|PMID:10984565|PMID:11091194|PMID:11092214|PMID:11110717|PMID:11129332|PMID:11139238|PMID:11225604|PMID:11260055|PMID:11313743|PMID:11529858|PMID:11931672|PMID:12181036|PMID:12472587|PMID:12632035|PMID:12903033|PMID:12935978|PMID:14521598|PMID:14717781|PMID:15142120|PMID:15456489|PMID:15735798|PMID:15741795|PMID:1634227|PMID:18282149|PMID:18669152|PMID:18976247|PMID:19751712|PMID:20040857|PMID:2070047|PMID:20735728|PMID:20958793|PMID:21287501|PMID:21902896|PMID:22180436|PMID:22327826|PMID:22873696|PMID:23358202|PMID:24033266|PMID:24533960|PMID:25582404|PMID:25741868|PMID:25828579|PMID:25863091|PMID:25952977|PMID:26105150|PMID:27227566|PMID:27848944|PMID:28447100|PMID:28492532|PMID:29246447|PMID:29618153|PMID:30208845|PMID:31064749|PMID:31273093|PMID:32333443|PMID:34355501|PMID:6812354|PMID:7919338|PMID:7974346|PMID:7981691|PMID:8242057|PMID:8244334|PMID:8364544|PMID:8652821|PMID:8883260|PMID:8940045|PMID:8978290|PMID:9414278|PMID:9576180|PMID:9716591 12052181 F7 coagulation factor VII gene DOID:2215 factor VII deficiency susceptibility ISO RGD:1345586 D RGD:7240710 20230505 OMIM 12052181 F7 coagulation factor VII gene DOID:2222 factor X deficiency ISO RGD:1345586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:10984565|PMID:12181036|PMID:25741868|PMID:34355501 12052181 F7 coagulation factor VII gene DOID:2235 prothrombin deficiency ISO RGD:628678 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (rat) PMID:2810399|REF_RGD_ID:2312318 12052181 F7 coagulation factor VII gene DOID:2349 arteriosclerosis severity ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:9569183|REF_RGD_ID:2312403 12052181 F7 coagulation factor VII gene DOID:2394 ovarian cancer ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased expression:ovarian surface epithelium (human) PMID:19904262|REF_RGD_ID:11049516 12052181 F7 coagulation factor VII gene DOID:2741 bilirubin metabolic disorder ISO RGD:628678 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:14724430|REF_RGD_ID:1304286 12052181 F7 coagulation factor VII gene DOID:2841 asthma treatment ISO RGD:628678 D RGD:9068941 20200609 RGD PMID:24523826|REF_RGD_ID:11040539 12052181 F7 coagulation factor VII gene DOID:2913 acute pancreatitis treatment ISO RGD:1345586 D RGD:9068941 20200609 RGD human protein in a rat model PMID:17506000|REF_RGD_ID:11049543 12052181 F7 coagulation factor VII gene DOID:3393 coronary artery disease ISO RGD:1345586 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:R353Q (human) PMID:11334615|REF_RGD_ID:2312397 12052181 F7 coagulation factor VII gene DOID:3393 coronary artery disease ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) PMID:10599031|REF_RGD_ID:2312400 12052181 F7 coagulation factor VII gene DOID:3393 coronary artery disease ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:8522401|REF_RGD_ID:2312408 12052181 F7 coagulation factor VII gene DOID:3526 cerebral infarction ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:plasma (human) PMID:14733777|REF_RGD_ID:11049518 12052181 F7 coagulation factor VII gene DOID:3526 cerebral infarction treatment ISO RGD:1345586 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:21998055|REF_RGD_ID:11049520 12052181 F7 coagulation factor VII gene DOID:4195 hyperglycemia ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human) PMID:3240844|REF_RGD_ID:2312413 12052181 F7 coagulation factor VII gene DOID:557 kidney disease ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) PMID:15608477|REF_RGD_ID:2312390 12052181 F7 coagulation factor VII gene DOID:576 proteinuria ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; protein:increased activity:plasma (human) PMID:509177|REF_RGD_ID:2312414 12052181 F7 coagulation factor VII gene DOID:5844 myocardial infarction ISO RGD:1345586 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myocardial infarction, decreased susceptibility to | ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:10554827|PMID:10862079|PMID:10984565|PMID:11092214|PMID:11129332|PMID:11931672|PMID:12181036|PMID:12903033|PMID:12935978|PMID:14521598|PMID:15142120|PMID:15456489|PMID:15735798|PMID:15741795|PMID:1634227|PMID:18282149|PMID:18669152|PMID:18976247|PMID:20040857|PMID:2070047|PMID:20735728|PMID:20958793|PMID:21902896|PMID:22180436|PMID:24533960|PMID:25582404|PMID:25741868|PMID:25828579|PMID:25952977|PMID:26105150|PMID:27227566|PMID:28492532|PMID:29246447|PMID:29618153|PMID:31064749|PMID:34355501|PMID:6812354|PMID:7919338|PMID:7981691|PMID:8242057|PMID:8883260 12052181 F7 coagulation factor VII gene DOID:5844 myocardial infarction susceptibility ISO RGD:1345586 D RGD:7240710 20190502 OMIM 12052181 F7 coagulation factor VII gene DOID:630 genetic disease ISO RGD:1345586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12052181 F7 coagulation factor VII gene DOID:8805 intermediate coronary syndrome ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:10653827|REF_RGD_ID:2312399 12052181 F7 coagulation factor VII gene DOID:8947 diabetic retinopathy ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human) PMID:10837382|REF_RGD_ID:2312398 12052181 F7 coagulation factor VII gene DOID:9000363 Hematuria ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17133240 12052181 F7 coagulation factor VII gene DOID:9000790 Postoperative Complications ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12707733 12052181 F7 coagulation factor VII gene DOID:9001044 Choroidal Neovascularization ISO RGD:731512 D RGD:9068941 20200609 RGD mouse protein in a rat model PMID:19357351|REF_RGD_ID:2312299 12052181 F7 coagulation factor VII gene DOID:9001542 Albuminuria ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human) PMID:8458188|REF_RGD_ID:2312410 12052181 F7 coagulation factor VII gene DOID:9001542 Albuminuria no_association ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:8250495|REF_RGD_ID:2312407 12052181 F7 coagulation factor VII gene DOID:9001542 Albuminuria severity ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) PMID:9187410|REF_RGD_ID:2312406 12052181 F7 coagulation factor VII gene DOID:9002153 Chronic Allograft Dysfunction treatment ISO RGD:1345586 D RGD:9068941 20200609 RGD human protein in a rat model PMID:12095034|REF_RGD_ID:11049508 12052181 F7 coagulation factor VII gene DOID:9002557 Inherited Blood Coagulation Disease treatment ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:10469179|REF_RGD_ID:11041654 12052181 F7 coagulation factor VII gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16671457|PMID:21127298 12052181 F7 coagulation factor VII gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:1345586 D RGD:9068941 20200609 RGD human protein in a rat model PMID:16671457|REF_RGD_ID:11049545 12052181 F7 coagulation factor VII gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15595332|PMID:16159073|PMID:18617125|PMID:20172985|PMID:20522813 12052181 F7 coagulation factor VII gene DOID:9003121 Thromboembolism ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20172985 12052181 F7 coagulation factor VII gene DOID:9003356 Extrahepatic Portal Vein Obstruction ISO RGD:628678 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:17660074|REF_RGD_ID:2312312 12052181 F7 coagulation factor VII gene DOID:9003646 Arterial Thrombosis treatment ISO RGD:1345586 D RGD:9068941 20200609 RGD human protein in a rat model PMID:11167855|REF_RGD_ID:11049507 12052181 F7 coagulation factor VII gene DOID:9003646 Arterial Thrombosis treatment ISO RGD:628678 D RGD:9068941 20200609 RGD PMID:12714830|REF_RGD_ID:11041657 12052181 F7 coagulation factor VII gene DOID:9003871 Venous Thrombosis ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14967414 12052181 F7 coagulation factor VII gene DOID:9003871 Venous Thrombosis treatment ISO RGD:628678 D RGD:9068941 20200609 RGD PMID:16378835|REF_RGD_ID:11041650 12052181 F7 coagulation factor VII gene DOID:9004484 Sepsis ISO RGD:628678 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (rat) PMID:3660344|REF_RGD_ID:2312320 12052181 F7 coagulation factor VII gene DOID:9004484 Sepsis treatment ISO RGD:628678 D RGD:9068941 20200609 RGD PMID:12000738|REF_RGD_ID:1598921 12052181 F7 coagulation factor VII gene DOID:9004562 Smoke Inhalation Injury ISO RGD:628678 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:15204765|REF_RGD_ID:2312315 12052181 F7 coagulation factor VII gene DOID:9004590 Acute Liver Failure ISO RGD:1345586 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 12052181 F7 coagulation factor VII gene DOID:9005269 Stable Angina ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:17357481|REF_RGD_ID:11049525 12052181 F7 coagulation factor VII gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628678 D RGD:9068941 20200609 RGD PMID:11474472|REF_RGD_ID:2312396 12052181 F7 coagulation factor VII gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628678 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (rat) PMID:16779662|REF_RGD_ID:2312313 12052181 F7 coagulation factor VII gene DOID:9005930 Endotoxemia ISO RGD:628678 D RGD:9068941 20200609 RGD PMID:11092686|REF_RGD_ID:7394782 12052181 F7 coagulation factor VII gene DOID:9005930 Endotoxemia treatment ISO RGD:731512 D RGD:9068941 20200609 RGD PMID:16378835|REF_RGD_ID:11041650 12052181 F7 coagulation factor VII gene DOID:9006205 Animal Disease Models ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21127298 12052181 F7 coagulation factor VII gene DOID:9006493 Glandular and Epithelial Neoplasms ISO RGD:628678 D RGD:9068941 20200609 RGD protein:altered activity:plasma (rat) PMID:2716922|REF_RGD_ID:2312392 12052181 F7 coagulation factor VII gene DOID:9006599 Hypertriglyceridemia ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) PMID:19329212|REF_RGD_ID:2312379 12052181 F7 coagulation factor VII gene DOID:9007622 Acute Subdural Hematoma ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12503044 12052181 F7 coagulation factor VII gene DOID:9007692 Insulin Resistance severity ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) PMID:9187410|REF_RGD_ID:2312406 12052181 F7 coagulation factor VII gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:1345586 D RGD:9068941 20200609 RGD human protein in a rat model PMID:22920553|REF_RGD_ID:11041662 12052181 F7 coagulation factor VII gene DOID:9008217 Hemorrhage ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12707733|PMID:12851533|PMID:16553518 12052181 F7 coagulation factor VII gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased expression:colorectal mucosa (human) PMID:22166631|REF_RGD_ID:11049522 12052181 F7 coagulation factor VII gene DOID:9008598 Traumatic Intracranial Hemorrhage ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20370756 12052181 F7 coagulation factor VII gene DOID:9256 colorectal cancer ISO RGD:1345586 D RGD:9068941 20200609 RGD human protein in a rat model PMID:19062044|REF_RGD_ID:11049532 12052181 F7 coagulation factor VII gene DOID:9351 diabetes mellitus ISO RGD:628678 D RGD:9068941 20200609 RGD PMID:10910004|REF_RGD_ID:2312393 12052181 F7 coagulation factor VII gene DOID:9351 diabetes mellitus ISO RGD:628678 D RGD:9068941 20200609 RGD protein:increased activity:plasma (rat) PMID:10899350|REF_RGD_ID:1598920 12052181 F7 coagulation factor VII gene DOID:9351 diabetes mellitus no_association ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:15258325|REF_RGD_ID:2312391 12052181 F7 coagulation factor VII gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:11689270|REF_RGD_ID:2312382 12052181 F7 coagulation factor VII gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Brain Infarction; protein:increased activity:plasma (human) PMID:18000605|REF_RGD_ID:2312380 12052181 F7 coagulation factor VII gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Kidney Failure; protein:increased expression:plasma (human) PMID:15860378|REF_RGD_ID:2312383 12052181 F7 coagulation factor VII gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:17785358|REF_RGD_ID:2312381 12052181 F7 coagulation factor VII gene DOID:9352 type 2 diabetes mellitus ISO RGD:628678 D RGD:9068941 20200609 RGD PMID:14614217|REF_RGD_ID:2312394 12052181 F7 coagulation factor VII gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:11137328|REF_RGD_ID:2312386 12052181 F7 coagulation factor VII gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:10332679|REF_RGD_ID:2312388 12052181 F7 coagulation factor VII gene DOID:9743 diabetic neuropathy ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:altered expression:plasma (human) PMID:10468085|REF_RGD_ID:2312401 12052181 F7 coagulation factor VII gene DOID:9744 type 1 diabetes mellitus ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:11146704|REF_RGD_ID:2312385 12052181 F7 coagulation factor VII gene DOID:9744 type 1 diabetes mellitus ISO RGD:1345586 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:R353Q (human) PMID:9686915|REF_RGD_ID:2312389 12052181 F7 coagulation factor VII gene DOID:9744 type 1 diabetes mellitus ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Kidney Failure; protein:increased expression:plasma (human) PMID:15860378|REF_RGD_ID:2312383 12052181 F7 coagulation factor VII gene DOID:9744 type 1 diabetes mellitus ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased activity, expression:plasma (human) PMID:11297753|REF_RGD_ID:2312384 12052181 F7 coagulation factor VII gene DOID:9970 obesity ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:14513073|REF_RGD_ID:2312395 12052181 F7 coagulation factor VII gene DOID:9970 obesity ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:9258277|REF_RGD_ID:2312404 12052181 F7 coagulation factor VII gene DOID:9970 obesity ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) PMID:16739871|REF_RGD_ID:1625710 12052181 F7 coagulation factor VII gene DOID:9970 obesity ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:19329212|REF_RGD_ID:2312379 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1319250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:24362817|PMID:25335493|PMID:25480913|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30859559 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1319250 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1319250 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1319250 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:16356934|PMID:25741868|PMID:25795793|PMID:26467025|PMID:28492532|PMID:30368668|PMID:33258288|PMID:33587123 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:0060580 Noonan syndrome 2 ISO RGD:1319250 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Noonan syndrome 2 | ClinVar Annotator: match by term: Noonan syndrome autosomal recessive PMID:16199547|PMID:17576681|PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26901136|PMID:27921248|PMID:28135719|PMID:28492532|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31128261|PMID:31182298|PMID:31438995|PMID:31883238|PMID:32623905|PMID:33897756|PMID:35391499|PMID:9536098 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:0060580 Noonan syndrome 2 susceptibility ISO RGD:1319250 D RGD:7240710 20230517 OMIM 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:0060588 Noonan syndrome 10 ISO RGD:1319250 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: LZTR1-Related Disorder | ClinVar Annotator: match by term: Noonan syndrome 10 PMID:16356934|PMID:18948947|PMID:24362817|PMID:24448499|PMID:25049390|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26467025|PMID:27921248|PMID:28017249|PMID:28492532|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30664951|PMID:30665374|PMID:30859559|PMID:31182298|PMID:31533111|PMID:31825158|PMID:32041611|PMID:32981126|PMID:33258288|PMID:33413596|PMID:33587123 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:0060588 Noonan syndrome 10 susceptibility ISO RGD:1319250 D RGD:7240710 20230517 OMIM 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:0080174 bladder exstrophy ISO RGD:1319250 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bladder exstrophy PMID:28492532 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:0080690 RASopathy ISO RGD:1319250 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RASopathy PMID:16356934|PMID:24362817|PMID:25741868|PMID:25795793|PMID:26467025|PMID:27921248|PMID:28492532|PMID:29409008|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31128261|PMID:31438995|PMID:31533111|PMID:31825158|PMID:33258288|PMID:33587123 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1319250 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:25741868 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1319250 D RGD:9068941 20220421 RGD mRNA:altered expression:stomach, tumor (human) PMID:29069277|REF_RGD_ID:151893464 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:1059 intellectual disability ISO RGD:1319250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1319250 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:11372 megacolon ISO RGD:1319250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1319250 D RGD:9068941 20220415 RGD DNA:missense mutation:c.1394C>T p.A465V, c.1330G>A p.D444N (human) PMID:32004086|REF_RGD_ID:151708727 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1319250 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:12849 autistic disorder ISO RGD:1319250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:1826 epilepsy ISO RGD:1319250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:3068 glioblastoma ISO RGD:1319250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23917401 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:3068 glioblastoma ISO RGD:1319250 D RGD:9068941 20220415 RGD DNA:mutations:multiple (human) PMID:23917401|REF_RGD_ID:151708722 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:3192 neurilemmoma ISO RGD:1319250 D RGD:9068941 20220414 RGD DNA:missense mutation:cds,multiple (human) PMID:24362817|REF_RGD_ID:151676717 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:3204 neurilemmomatosis ISO RGD:1319250 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Schwannomatosis | ClinVar Annotator: match by term: Schwannomatosis 2 PMID:16199547|PMID:17576681|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26803811|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28191889|PMID:28492532|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:31128261|PMID:31130284|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31533111|PMID:31825158|PMID:31980526|PMID:32371905|PMID:32443592|PMID:32981126|PMID:33258288|PMID:33413596|PMID:34184824|PMID:35453828|PMID:35806449|PMID:35979676|PMID:9536098 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:3204 neurilemmomatosis susceptibility ISO RGD:1319250 D RGD:7240710 20230517 OMIM 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:3490 Noonan syndrome ISO RGD:1319250 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome PMID:16356934|PMID:25741868|PMID:25795793|PMID:26467025|PMID:28492532|PMID:30368668|PMID:33258288|PMID:33587123 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1319250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:5419 schizophrenia ISO RGD:1319250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319250 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29409008|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1319250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:630 genetic disease ISO RGD:1319250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:16356934|PMID:18072270|PMID:18948947|PMID:19582488|PMID:22105938|PMID:23401320|PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:27472264|PMID:28295212|PMID:28492532|PMID:29409008|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31533111|PMID:31573083|PMID:31825158 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1319250 D RGD:9068941 20220421 RGD DNA:missense mutation:cds, liver (human) PMID:28622513|REF_RGD_ID:151893487 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:9003145 Nuchal Bleb, Familial ISO RGD:1319250 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Fetal cystic hygroma PMID:25741868|PMID:25795793|PMID:28492532|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31533111|PMID:31825158 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31128261|PMID:31130284|PMID:31155615|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31527676|PMID:31533111|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32371905|PMID:32443592|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32746448|PMID:33084842|PMID:33219631|PMID:33318624|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34079577|PMID:34113392|PMID:34136434|PMID:34184824|PMID:34401172|PMID:35391499|PMID:35453828|PMID:35806449|PMID:35813072|PMID:9536098 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319250 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:28991257|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31128261|PMID:31130284|PMID:31155615|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31527676|PMID:31533111|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32368696|PMID:32371905|PMID:32443592|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32746448|PMID:33084842|PMID:33219631|PMID:33318624|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34079577|PMID:34113392|PMID:34136434|PMID:34184824|PMID:34401172|PMID:35391499|PMID:35418823|PMID:35453828|PMID:35806449|PMID:35813072|PMID:35979676|PMID:9536098 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:9007096 Stroke ISO RGD:1319250 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28191889|PMID:28492532 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:9007661 Dwarfism ISO RGD:1319250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short stature PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29384852|PMID:29409008|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31182298 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1319250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Hydrops fetalis PMID:25303977|PMID:25741868|PMID:28492532|PMID:32981126|PMID:33258288 12052197 LZTR1 leucine zipper like post translational regulator 1 gene DOID:9008582 Developmental Disease ISO RGD:1319250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:24362817|PMID:25741868|PMID:27921248|PMID:28492532|PMID:29409008|PMID:31128261|PMID:31438995 12052222 SERPINE2 serpin family E member 2 gene DOID:10652 Alzheimer's disease ISO RGD:70076 D RGD:9068941 20200609 RGD PMID:2813392|REF_RGD_ID:2317937 12052222 SERPINE2 serpin family E member 2 gene DOID:10763 hypertension ISO RGD:3748 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:blood vessel PMID:12524238|REF_RGD_ID:729767 12052222 SERPINE2 serpin family E member 2 gene DOID:4724 brain edema ISO RGD:3748 D RGD:9068941 20200609 RGD associated with Cerebral Hemorrhage PMID:18442833|REF_RGD_ID:2317927 12052222 SERPINE2 serpin family E member 2 gene DOID:630 genetic disease ISO RGD:70076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12052222 SERPINE2 serpin family E member 2 gene DOID:9004009 Reperfusion Injury ISO RGD:3748 D RGD:9068941 20200609 RGD PMID:8261109|REF_RGD_ID:2317936 12052222 SERPINE2 serpin family E member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:70076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12052242 IGSF5 immunoglobulin superfamily member 5 gene DOID:12849 autistic disorder ISO RGD:1352549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12052242 IGSF5 immunoglobulin superfamily member 5 gene DOID:630 genetic disease ISO RGD:1352549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12052242 IGSF5 immunoglobulin superfamily member 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352549 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12052265 NDRG4 NDRG family member 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353588 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12052265 NDRG4 NDRG family member 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353588 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12052265 NDRG4 NDRG family member 4 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12052265 NDRG4 NDRG family member 4 gene DOID:224 transient cerebral ischemia ISO RGD:1332043 D RGD:9068941 20200609 RGD PMID:21636852|REF_RGD_ID:7247728 12052265 NDRG4 NDRG family member 4 gene DOID:3068 glioblastoma ISO RGD:1353588 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain PMID:22489821|REF_RGD_ID:7247726 12052265 NDRG4 NDRG family member 4 gene DOID:3070 high grade glioma disease_progression ISO RGD:1353588 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:22399192|REF_RGD_ID:7247727 12052265 NDRG4 NDRG family member 4 gene DOID:630 genetic disease ISO RGD:1353588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12052265 NDRG4 NDRG family member 4 gene DOID:687 hepatoblastoma ISO RGD:1353588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 12052293 NOVA2 NOVA alternative splicing regulator 2 gene DOID:1059 intellectual disability ISO RGD:1317566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25167861|PMID:32197073 12052293 NOVA2 NOVA alternative splicing regulator 2 gene DOID:630 genetic disease ISO RGD:1317566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12052293 NOVA2 NOVA alternative splicing regulator 2 gene DOID:9001712 Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities ISO RGD:1317566 D RGD:7240710 20200812 OMIM 12052293 NOVA2 NOVA alternative splicing regulator 2 gene DOID:9001712 Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities ISO RGD:1317566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities PMID:25167861|PMID:25741868|PMID:32197073 12052301 GLRX5 glutaredoxin 5 gene DOID:0060065 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 ISO RGD:1318119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12052301 GLRX5 glutaredoxin 5 gene DOID:0080343 autosomal recessive pyridoxine-refractory sideroblastic anemia 3 ISO RGD:1318119 D RGD:7240710 20190315 OMIM 12052301 GLRX5 glutaredoxin 5 gene DOID:0080343 autosomal recessive pyridoxine-refractory sideroblastic anemia 3 ISO RGD:1318119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sideroblastic anemia 3 PMID:17485548|PMID:20364084|PMID:25342667|PMID:25741868|PMID:26100117|PMID:30660387 12052301 GLRX5 glutaredoxin 5 gene DOID:630 genetic disease ISO RGD:1318119 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12052301 GLRX5 glutaredoxin 5 gene DOID:8955 sideroblastic anemia ISO RGD:1318119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18637800 12052301 GLRX5 glutaredoxin 5 gene DOID:9001337 Childhood-Onset Spasticity with Hyperglycinemia ISO RGD:1318119 D RGD:7240710 20190315 OMIM 12052301 GLRX5 glutaredoxin 5 gene DOID:9001337 Childhood-Onset Spasticity with Hyperglycinemia ISO RGD:1318119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spasticity, childhood-onset, with hyperglycinemia PMID:24334290|PMID:25741868|PMID:28492532 12052308 GLCCI1 glucocorticoid induced 1 gene DOID:630 genetic disease ISO RGD:1347258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12052320 NRARP NOTCH regulated ankyrin repeat protein gene DOID:0050777 Joubert syndrome ISO RGD:1604888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12052320 NRARP NOTCH regulated ankyrin repeat protein gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1604888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12052320 NRARP NOTCH regulated ankyrin repeat protein gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1604888 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12052320 NRARP NOTCH regulated ankyrin repeat protein gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1604888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12052320 NRARP NOTCH regulated ankyrin repeat protein gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1604888 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12052320 NRARP NOTCH regulated ankyrin repeat protein gene DOID:0081097 Rafiq syndrome ISO RGD:1604888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12052320 NRARP NOTCH regulated ankyrin repeat protein gene DOID:1826 epilepsy ISO RGD:1604888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12052320 NRARP NOTCH regulated ankyrin repeat protein gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1604888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12052320 NRARP NOTCH regulated ankyrin repeat protein gene DOID:9007502 Brain Neoplasms ISO RGD:1604888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 12052325 GJA10 gap junction protein alpha 10 gene DOID:630 genetic disease ISO RGD:1603289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12052335 DOCK10 dedicator of cytokinesis 10 gene DOID:630 genetic disease ISO RGD:1348168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12052335 DOCK10 dedicator of cytokinesis 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12052335 DOCK10 dedicator of cytokinesis 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12052423 OR9A8 olfactory receptor family 9 subfamily A member 8 gene DOID:630 genetic disease ISO RGD:1348029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12052429 PCDH17 protocadherin 17 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1312379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12052429 PCDH17 protocadherin 17 gene DOID:630 genetic disease ISO RGD:1312379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12052439 CDK9 cyclin dependent kinase 9 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12052439 CDK9 cyclin dependent kinase 9 gene DOID:0050902 medulloblastoma ISO RGD:1346548 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:31594641 12052439 CDK9 cyclin dependent kinase 9 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12052439 CDK9 cyclin dependent kinase 9 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1346548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12052439 CDK9 cyclin dependent kinase 9 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1346548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 12052439 CDK9 cyclin dependent kinase 9 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12052439 CDK9 cyclin dependent kinase 9 gene DOID:6000 congestive heart failure ISO RGD:1346548 D RGD:9068941 20200609 RGD protein:increased activity:ventricle: PMID:15297879|REF_RGD_ID:1556509 12052439 CDK9 cyclin dependent kinase 9 gene DOID:6000 congestive heart failure ISO RGD:1552365 D RGD:9068941 20200609 RGD protein:increased activity:heart: PMID:15297879|REF_RGD_ID:1556509 12052439 CDK9 cyclin dependent kinase 9 gene DOID:630 genetic disease ISO RGD:1346548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12052439 CDK9 cyclin dependent kinase 9 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1359638 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver: PMID:20828602|REF_RGD_ID:9698426 12052506 LOC102157295 atherin gene DOID:0060019 coronin-1A deficiency ISO RGD:735815 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:18836449|PMID:25073507|PMID:28492532 12052506 LOC102157295 atherin gene DOID:0060041 autism spectrum disorder ISO RGD:735815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12052506 LOC102157295 atherin gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:735815 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome 12052506 LOC102157295 atherin gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:735815 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12052506 LOC102157295 atherin gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:735815 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:25741868 12052506 LOC102157295 atherin gene DOID:12849 autistic disorder ISO RGD:735815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12052506 LOC102157295 atherin gene DOID:1882 atrial heart septal defect ISO RGD:735815 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12052506 LOC102157295 atherin gene DOID:2634 cystadenoma ISO RGD:735815 D RGD:9068941 20220210 RGD protein:increased expression:pancreas PMID:19077459|REF_RGD_ID:2325696 12052506 LOC102157295 atherin gene DOID:5419 schizophrenia ISO RGD:735815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12052506 LOC102157295 atherin gene DOID:630 genetic disease ISO RGD:735815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12052506 LOC102157295 atherin gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:735815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE XII | ClinVar Annotator: match by term: GSD XII | ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:17576681|PMID:25741868|PMID:2825199|PMID:28492532|PMID:8598869|PMID:9536098 12052506 LOC102157295 atherin gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:735815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome 12052506 LOC102157295 atherin gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:10139 D RGD:9068941 20220210 RGD PMID:25637246|REF_RGD_ID:13673876 12052522 PCDHAC1 protocadherin alpha subfamily C, 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1353050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12052522 PCDHAC1 protocadherin alpha subfamily C, 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353050 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12052522 PCDHAC1 protocadherin alpha subfamily C, 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1353050 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 12052522 PCDHAC1 protocadherin alpha subfamily C, 1 gene DOID:630 genetic disease ISO RGD:1353050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12052522 PCDHAC1 protocadherin alpha subfamily C, 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12052522 PCDHAC1 protocadherin alpha subfamily C, 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353050 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:0014667 disease of metabolism ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19589179 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:0050440 familial partial lipodystrophy ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19793595 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:0050440 familial partial lipodystrophy ISO RGD:69169 D RGD:9068941 20220825 MouseDO OMIM:151660 | OMIM:604367 | OMIM:608600 | OMIM:613877 | OMIM:615238 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:0050850 diabetic encephalopathy treatment ISO RGD:3371 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24291733|REF_RGD_ID:8553040 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:0050851 glomerulosclerosis treatment ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:11318962|REF_RGD_ID:8553043 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:0060318 acute promyelocytic leukemia ISO RGD:69168 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:69169 D RGD:9068941 20220825 MouseDO 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:0070204 familial partial lipodystrophy type 3 ISO RGD:69168 D RGD:7240710 20180912 OMIM 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:0070204 familial partial lipodystrophy type 3 ISO RGD:69168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PPARG-related familial partial lipodystrophy PMID:10381354|PMID:10523018|PMID:10622252|PMID:10690291|PMID:10851250|PMID:11788685|PMID:12453919|PMID:12663460|PMID:14569127|PMID:14616762|PMID:14671186|PMID:15254591|PMID:17003330|PMID:17299075|PMID:17356052|PMID:22461176|PMID:22539598|PMID:25157153|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69168 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:0080322 polycystic kidney disease treatment ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:21147840|REF_RGD_ID:14701037 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:0080600 COVID-19 ISO RGD:69168 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:0081120 Graves ophthalmopathy ISO RGD:69168 D RGD:9068941 20200609 RGD mRNA:increased expression:orbital fat (human) PMID:14588098|REF_RGD_ID:8552818 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17255338 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:0111136 congenital generalized lipodystrophy type 2 ISO RGD:69169 D RGD:9068941 20220825 MouseDO OMIM:269700 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:10591 pre-eclampsia ISO RGD:69168 D RGD:9068941 20200609 RGD PMID:15562025|REF_RGD_ID:1580687 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:10591 pre-eclampsia ISO RGD:69168 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34995009 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:10652 Alzheimer's disease ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15993441|PMID:16407166|PMID:30328325 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:10652 Alzheimer's disease no_association ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18573313|REF_RGD_ID:2301852 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.P12A(human) PMID:17440948|REF_RGD_ID:2311642 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:1074 kidney failure ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28182703 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:10763 hypertension ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:15970297|PMID:18437150|REF_RGD_ID:1580684|REF_RGD_ID:2301888 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:10763 hypertension ISO RGD:3371 D RGD:9068941 20200609 RGD protein:decreased expression:rostral ventrolateral medulla (rat) PMID:20404217|REF_RGD_ID:7175297 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:10763 hypertension ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15199296|PMID:19666838|PMID:27292124 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:10763 hypertension ISO RGD:69168 D RGD:9068941 20200609 RGD PMID:12923396|REF_RGD_ID:1580690 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:10763 hypertension ISO RGD:69168 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:18316027|REF_RGD_ID:2301864 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:11054 urinary bladder cancer ISO RGD:3371 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:18712722|REF_RGD_ID:2301870 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:11382 corneal neovascularization treatment ISO RGD:69169 D RGD:9068941 20200609 RGD PMID:17625041|REF_RGD_ID:8552895 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:11613 hyperandrogenism ISO RGD:3371 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary follicle (rat) PMID:20813360|REF_RGD_ID:8553031 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:11981 morbid obesity ISO RGD:69168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Morbid obesity PMID:10690291|PMID:25157153|PMID:28492532|PMID:9753710 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:69168 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies; DNA:polymorphisms:exon:161C>T, p.P12A (human) PMID:18417957|REF_RGD_ID:2301860 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:12935 alcoholic cardiomyopathy ISO RGD:3371 D RGD:9068941 20200609 RGD protein:increased expression:heart myocardium PMID:18783396|REF_RGD_ID:2301868 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:12986 leukostasis ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12468449 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:13207 proliferative diabetic retinopathy onset ISO RGD:69168 D RGD:9068941 20200609 RGD PMID:18541841|REF_RGD_ID:2301854 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:13207 proliferative diabetic retinopathy susceptibility ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:snp:cds:p.P12A (rs1801282) (human) PMID:23559865|REF_RGD_ID:8552820 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:13207 proliferative diabetic retinopathy susceptibility ISO RGD:69168 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snp:promoter:c.-2819A>G (human) PMID:19125195|REF_RGD_ID:8699508 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:14557 primary pulmonary hypertension ISO RGD:69169 D RGD:9068941 20220825 MouseDO OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:1520 colon carcinoma ISO RGD:69168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:10394368 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:1561 cognitive disorder susceptibility ISO RGD:69168 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P12A (human) PMID:18639367|REF_RGD_ID:2301850 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:1793 pancreatic cancer ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11034103|PMID:11741176 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:1793 pancreatic cancer ISO RGD:69168 D RGD:9068941 20200609 RGD PMID:19152448|REF_RGD_ID:2317462 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:1793 pancreatic cancer susceptibility ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.P12A (human) PMID:19436234|REF_RGD_ID:2317460 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:1909 melanoma ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14512786|PMID:28962521 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:1936 atherosclerosis ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18269830 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:1936 atherosclerosis ISO RGD:69169 D RGD:9068941 20200609 RGD protein:increased expression:aortic sinus, endothelium (mouse) PMID:15779851|REF_RGD_ID:8552894 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:219 colon cancer ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:frameshift mutation:c.472delA (human) PMID:10394368|REF_RGD_ID:1601444 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:224 transient cerebral ischemia ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:18378216|PMID:18973594|PMID:19221220|REF_RGD_ID:2301866|REF_RGD_ID:2301892|REF_RGD_ID:8553032 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:2349 arteriosclerosis treatment ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:15967870|REF_RGD_ID:8553041 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:2921 glomerulonephritis ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11318962 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:2988 antiphospholipid syndrome ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28182703 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:299 adenocarcinoma ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11034103 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:3021 acute kidney failure ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20623750|PMID:24011919|PMID:24433871 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:3021 acute kidney failure treatment ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:17494862|REF_RGD_ID:8553020 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:3068 glioblastoma ISO RGD:69168 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glioblastoma, somatic PMID:10381354|PMID:10523018|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:28492532|PMID:9467001 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:3070 high grade glioma ISO RGD:69168 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:10381354|PMID:10523018|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:28492532|PMID:9467001 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:326 ischemia ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12468449|PMID:24433871 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:3393 coronary artery disease ISO RGD:69168 D RGD:9068941 20200609 RGD protein:decreased expression:carotid artery, macrophage, smooth muscle cell (human) PMID:21709632|REF_RGD_ID:8552814 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:3407 carotid artery disease ISO RGD:69168 D RGD:9068941 20200609 RGD PMID:15284449|REF_RGD_ID:1580688 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:69168 D RGD:9068941 20200609 RGD PMID:19396032|REF_RGD_ID:2317461 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:3946 pituitary-dependent Cushing's disease ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16809932 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:4989 pancreatitis ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:18583255|REF_RGD_ID:2301875 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:6000 congestive heart failure ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:630 genetic disease ISO RGD:69168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:684 hepatocellular carcinoma ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16374840 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:684 hepatocellular carcinoma severity ISO RGD:69168 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:27451128|REF_RGD_ID:14694822 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:783 end stage renal disease disease_progression ISO RGD:69168 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP: :p.P12A (human) PMID:18467141|REF_RGD_ID:2301857 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:811 lipodystrophy ISO RGD:69168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lipodystrophy PMID:10622252|PMID:12663460|PMID:15254591|PMID:17003330|PMID:22461176|PMID:22539598|PMID:25157153|PMID:25741868|PMID:28492532 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:8398 osteoarthritis ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:8778 Crohn's disease ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21829567 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:8893 psoriasis ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10815854 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:8947 diabetic retinopathy ISO RGD:69169 D RGD:9068941 20200609 RGD Retinal Leukostasis;associated with Diabetes Mellitus, Experimental PMID:17003451|REF_RGD_ID:8552824 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20210794 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9000081 Lymphatic Metastasis ISO RGD:69168 D RGD:9068941 20200609 RGD associated with Cholangiocarcinoma;protein:increased expression:bile duct epithelium PMID:20021832|REF_RGD_ID:2317459 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9000173 Eye Burns ISO RGD:3371 D RGD:9068941 20200609 RGD protein:increased expression:cornea, neutrophil, macrophage (rat) PMID:24194635|REF_RGD_ID:8552904 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9000217 Stomach Neoplasms ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15492468|PMID:19140230 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29162556 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9000641 Pain ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:18387855|REF_RGD_ID:2301890 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9000784 Fibrosis ISO RGD:3371 D RGD:9068941 20200609 RGD associated with Hypertension PMID:18360056|REF_RGD_ID:2301893 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9000784 Fibrosis ISO RGD:69169 D RGD:9068941 20200609 RGD PMID:18511847|REF_RGD_ID:2301856 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:18594976|REF_RGD_ID:2301874 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:22529699|REF_RGD_ID:8553190 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:69168 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:16221712|REF_RGD_ID:13208600 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9002165 Diabetic Nephropathies ISO RGD:3371 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:18388116|REF_RGD_ID:2301862 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9002165 Diabetic Nephropathies ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28182703 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9002165 Diabetic Nephropathies ISO RGD:69169 D RGD:9068941 20200609 RGD PMID:18780770|REF_RGD_ID:2301845 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9002231 Fetal Growth Retardation ISO RGD:3371 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (rat) PMID:21425435|REF_RGD_ID:8552971 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:3371 D RGD:9068941 20200609 RGD protein:increased expression:myocardium (rat) PMID:15167281|REF_RGD_ID:8553039 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:69169 D RGD:9068941 20200609 RGD protein:decreased expression:retina (mouse) PMID:18806296|REF_RGD_ID:2301844 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9002928 Colonic Neoplasms ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20540935 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9002955 Nerve Degeneration ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18289512 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9003370 Dyslipidemias ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16168052 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:69168 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nasal mucosa (human) PMID:17116814|REF_RGD_ID:8552811 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9004009 Reperfusion Injury ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12468449|PMID:24011919|PMID:24433871 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9004547 Thyroid Neoplasms ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15785241 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9004610 Acute Lung Injury ISO RGD:3371 D RGD:9068941 20200609 RGD protein:decreased expression:lung (rat) PMID:16083301|REF_RGD_ID:8553030 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9004610 Acute Lung Injury ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21153920 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3371 D RGD:9068941 20200609 RGD associated with Hypertension PMID:18360056|REF_RGD_ID:2301893 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9004980 Chronobiology Disorders ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22899986 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9005372 Inflammation ISO RGD:3371 D RGD:9068941 20200609 RGD associated with Brain Injuries PMID:18479673|REF_RGD_ID:2301881 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9005372 Inflammation ISO RGD:3371 D RGD:9068941 20200609 RGD associated with Status Epilepticus PMID:18455351|REF_RGD_ID:2301886 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9005372 Inflammation ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19926821|PMID:21354099 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3371 D RGD:9068941 20200609 RGD mRNA:altered expression:aorta, kidney cortex, retina PMID:18641696|REF_RGD_ID:2301849 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12967931|PMID:16123366|PMID:21757225 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69169 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:18806296|REF_RGD_ID:2301844 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9005782 Carotid Intimal Medial Thickness 1 ISO RGD:69168 D RGD:7240710 20180130 OMIM 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9005782 Carotid Intimal Medial Thickness 1 ISO RGD:69168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carotid intimal medial thickness 1 PMID:25741868|PMID:27749844 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9005930 Endotoxemia ISO RGD:3371 D RGD:9068941 20200609 RGD protein:increased expression:small intestine mucosa PMID:21641970|REF_RGD_ID:5135029 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:69169 D RGD:9068941 20200609 RGD mouse gene in a rat model PMID:19339015|REF_RGD_ID:8553019 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9006447 Eye Injuries treatment ISO RGD:69169 D RGD:9068941 20200609 RGD PMID:18658087|REF_RGD_ID:8552893 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15785241 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9006646 Metabolic Syndrome ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:16183630|REF_RGD_ID:1580683 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9006646 Metabolic Syndrome ISO RGD:69168 D RGD:9068941 20200609 RGD PMID:16186413|REF_RGD_ID:1580686 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9006646 Metabolic Syndrome no_association ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:SNP: :p.P12A (human) PMID:18959602|REF_RGD_ID:2301843 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9007188 Liver Neoplasms ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20143881 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:69169 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:26599535|REF_RGD_ID:11554658 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9007692 Insulin Resistance ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16168052|PMID:21354099|PMID:21484566 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9007692 Insulin Resistance ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:nonsense mutation PMID:12118251|REF_RGD_ID:1601446 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69169 D RGD:9068941 20200609 RGD PMID:18562925|REF_RGD_ID:2301853 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9008443 Colorectal Neoplasms ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16489531 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9074 systemic lupus erythematosus ISO RGD:69169 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9206 Barrett's esophagus ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15387324 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9351 diabetes mellitus ISO RGD:69168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:19748282|PMID:25741868|PMID:27749844|PMID:28492532 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9352 type 2 diabetes mellitus ISO RGD:69168 D RGD:7240710 20180130 OMIM 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9352 type 2 diabetes mellitus ISO RGD:69168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10381354|PMID:10523018|PMID:10622252|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:15254591|PMID:22461176|PMID:25157153|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9352 type 2 diabetes mellitus ISO RGD:69168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10381354|PMID:10523018|PMID:10622252|PMID:10690291|PMID:10851250|PMID:12663460|PMID:14569127|PMID:14616762|PMID:14671186|PMID:15254591|PMID:17003330|PMID:22461176|PMID:22539598|PMID:25157153|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:snp:cds:p.P12A (human) PMID:9918859|REF_RGD_ID:8552822 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.P12A (human) PMID:18598350|REF_RGD_ID:2301851 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9452 fatty liver disease ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:15112352|REF_RGD_ID:1580685 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9455 lipid storage disease ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21123845 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9970 obesity ISO RGD:69168 D RGD:7240710 20180130 OMIM 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9970 obesity ISO RGD:69168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency PMID:10381354|PMID:10523018|PMID:10622252|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:15254591|PMID:22461176|PMID:25157153|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9970 obesity ISO RGD:69168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Obesity PMID:10381354|PMID:10523018|PMID:10622252|PMID:10690291|PMID:10851250|PMID:12663460|PMID:14569127|PMID:14616762|PMID:14671186|PMID:15254591|PMID:17003330|PMID:22461176|PMID:22539598|PMID:25157153|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554 12052559 PPARG peroxisome proliferator activated receptor gamma gene DOID:9970 obesity susceptibility ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:18683148|REF_RGD_ID:2301847 12052585 TJP1 tight junction protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1314849 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12052585 TJP1 tight junction protein 1 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1314849 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 12052585 TJP1 tight junction protein 1 gene DOID:1059 intellectual disability ISO RGD:1314849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12052585 TJP1 tight junction protein 1 gene DOID:10825 essential hypertension ISO RGD:1314849 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 12052585 TJP1 tight junction protein 1 gene DOID:12849 autistic disorder ISO RGD:1314849 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 12052585 TJP1 tight junction protein 1 gene DOID:13141 uveitis ISO RGD:1306305 D RGD:9068941 20200609 RGD protein:decreased expression, altered localization: corneal endothelium PMID:18587491|REF_RGD_ID:2325139 12052585 TJP1 tight junction protein 1 gene DOID:13580 cholestasis ISO RGD:1306305 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:18197414|REF_RGD_ID:2325141 12052585 TJP1 tight junction protein 1 gene DOID:13976 peptic esophagitis ISO RGD:1306305 D RGD:9068941 20200609 RGD PMID:19653339|REF_RGD_ID:2325133 12052585 TJP1 tight junction protein 1 gene DOID:1932 Angelman syndrome ISO RGD:1314849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome 12052585 TJP1 tight junction protein 1 gene DOID:2316 brain ischemia ISO RGD:1306305 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:19712057|REF_RGD_ID:2325131 12052585 TJP1 tight junction protein 1 gene DOID:4606 bile duct cancer ISO RGD:1314849 D RGD:9068941 20200609 RGD protein:decreased expression:bile duct PMID:19184677|REF_RGD_ID:2325030 12052585 TJP1 tight junction protein 1 gene DOID:4724 brain edema ISO RGD:1314849 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cerebral edema PMID:25741868 12052585 TJP1 tight junction protein 1 gene DOID:4948 gallbladder carcinoma ISO RGD:1314849 D RGD:9068941 20200609 RGD protein:decreased expression:gallbladder PMID:19184677|REF_RGD_ID:2325030 12052585 TJP1 tight junction protein 1 gene DOID:5419 schizophrenia ISO RGD:1314849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12052585 TJP1 tight junction protein 1 gene DOID:630 genetic disease ISO RGD:1314849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12052585 TJP1 tight junction protein 1 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1306305 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19390485|REF_RGD_ID:2317627 12052585 TJP1 tight junction protein 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1306305 D RGD:9068941 20200609 RGD protein:altered localization PMID:18854840|REF_RGD_ID:2325137 12052585 TJP1 tight junction protein 1 gene DOID:9000641 Pain ISO RGD:1306305 D RGD:9068941 20200609 RGD associated with Inflammation;protein:increased expression:brain PMID:19319146|REF_RGD_ID:2325136 12052585 TJP1 tight junction protein 1 gene DOID:9000998 Brain Injuries ISO RGD:1306305 D RGD:9068941 20200609 RGD PMID:19889224|REF_RGD_ID:2325128 12052585 TJP1 tight junction protein 1 gene DOID:9002457 Experimental Arthritis ISO RGD:1306305 D RGD:9068941 20200609 RGD PMID:18848892|REF_RGD_ID:2325138 12052585 TJP1 tight junction protein 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1306305 D RGD:9068941 20200609 RGD PMID:19929946|REF_RGD_ID:2325127 12052585 TJP1 tight junction protein 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1306305 D RGD:9068941 20200609 RGD protein:decreased expression:brain, endothelial cell PMID:19374856|REF_RGD_ID:2325135 12052585 TJP1 tight junction protein 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1306305 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus PMID:16567508|REF_RGD_ID:2325150 12052585 TJP1 tight junction protein 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1314850 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus PMID:16567508|REF_RGD_ID:2325150 12052585 TJP1 tight junction protein 1 gene DOID:936 brain disease ISO RGD:1306305 D RGD:9068941 20200609 RGD associate with Pancreatitis, Acute Necrotizing PMID:19712057|REF_RGD_ID:2325131 12052613 RDH16 retinol dehydrogenase 16 gene DOID:630 genetic disease ISO RGD:1604846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12052639 GCC2 GRIP and coiled-coil domain containing 2 gene DOID:0111201 distal hereditary motor neuronopathy type 7A ISO RGD:1605713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:28492532 12052639 GCC2 GRIP and coiled-coil domain containing 2 gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1605713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PMID:10431241|PMID:10431242|PMID:18854857|PMID:20979233|PMID:28492532|PMID:28981473 12052639 GCC2 GRIP and coiled-coil domain containing 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1605713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 12052639 GCC2 GRIP and coiled-coil domain containing 2 gene DOID:630 genetic disease ISO RGD:1605713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12052639 GCC2 GRIP and coiled-coil domain containing 2 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1605713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:28492532 12052666 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 gene DOID:1826 epilepsy ISO RGD:1314539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:26424145|PMID:26437029|PMID:28492532|PMID:32581362 12052666 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1314539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12052666 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 gene DOID:769 neuroblastoma ISO RGD:1314539 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941191 12052666 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 gene DOID:9005075 Spastic Paraplegia and Psychomotor Retardation with or without Seizures ISO RGD:1314539 D RGD:7240710 20190315 OMIM 12052666 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 gene DOID:9005075 Spastic Paraplegia and Psychomotor Retardation with or without Seizures ISO RGD:1314539 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spastic paraplegia and psychomotor retardation with or without seizures PMID:25741868|PMID:26424145|PMID:26437029|PMID:28492532|PMID:32581362 12052666 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1314539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:26424145|PMID:26437029|PMID:28492532|PMID:32581362 12052666 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1314539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:26424145|PMID:26437029|PMID:28492532|PMID:32581362 12052695 LAMA4 laminin subunit alpha 4 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1320894 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:24033266|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32880476 12052695 LAMA4 laminin subunit alpha 4 gene DOID:0050451 Brugada syndrome ISO RGD:1320894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:25741868|PMID:28492532|PMID:28986455 12052695 LAMA4 laminin subunit alpha 4 gene DOID:0050650 familial atrial fibrillation ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation PMID:25741868|PMID:28492532 12052695 LAMA4 laminin subunit alpha 4 gene DOID:0050700 cardiomyopathy ISO RGD:1320894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:17576681|PMID:17646580|PMID:20890277|PMID:23861362|PMID:24033266|PMID:24463507|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:30847666|PMID:31333075|PMID:31568572|PMID:31983221|PMID:9536098 12052695 LAMA4 laminin subunit alpha 4 gene DOID:0050970 spinocerebellar ataxia type 19/22 ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22 PMID:25741868|PMID:28492532 12052695 LAMA4 laminin subunit alpha 4 gene DOID:0060163 body dysmorphic disorder ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 12052695 LAMA4 laminin subunit alpha 4 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 12052695 LAMA4 laminin subunit alpha 4 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1320894 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30086531|PMID:30847666|PMID:31333075|PMID:31568572|PMID:31983221 12052695 LAMA4 laminin subunit alpha 4 gene DOID:0110226 Brugada syndrome 9 ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 9 PMID:25741868|PMID:28492532 12052695 LAMA4 laminin subunit alpha 4 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24033266|PMID:25741868|PMID:28166811|PMID:28492532|PMID:31333075|PMID:31568572 12052695 LAMA4 laminin subunit alpha 4 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1320894 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30086531|PMID:30847666|PMID:31333075|PMID:31568572|PMID:31983221 12052695 LAMA4 laminin subunit alpha 4 gene DOID:0110438 dilated cardiomyopathy 1JJ ISO RGD:1320894 D RGD:7240710 20180130 OMIM 12052695 LAMA4 laminin subunit alpha 4 gene DOID:0110438 dilated cardiomyopathy 1JJ ISO RGD:1320894 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ PMID:16199547|PMID:16204254|PMID:17576681|PMID:17646580|PMID:20890277|PMID:21822268|PMID:23274168|PMID:23861362|PMID:24033266|PMID:24121792|PMID:24463507|PMID:24503780|PMID:25326637|PMID:25741868|PMID:27532257|PMID:28166811|PMID:28416588|PMID:28492532|PMID:28750076|PMID:28798025|PMID:28986455|PMID:29016939|PMID:29247119|PMID:30086531|PMID:30847666|PMID:31024045|PMID:31333075|PMID:31527676|PMID:31534214|PMID:31568572|PMID:31983221|PMID:32746448|PMID:32880476|PMID:33874732|PMID:9536098 12052695 LAMA4 laminin subunit alpha 4 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S 12052695 LAMA4 laminin subunit alpha 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12052695 LAMA4 laminin subunit alpha 4 gene DOID:12642 hiatus hernia ISO RGD:1320894 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hiatus hernia PMID:25741868|PMID:28492532 12052695 LAMA4 laminin subunit alpha 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28416588|PMID:28492532|PMID:31333075|PMID:31568572 12052695 LAMA4 laminin subunit alpha 4 gene DOID:2843 long QT syndrome ISO RGD:1320894 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 12052695 LAMA4 laminin subunit alpha 4 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1320894 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:23861362|PMID:28492532|PMID:30847666 12052695 LAMA4 laminin subunit alpha 4 gene DOID:630 genetic disease ISO RGD:1320894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12052695 LAMA4 laminin subunit alpha 4 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:28492532 12052695 LAMA4 laminin subunit alpha 4 gene DOID:9003281 Spontaneous Abortions ISO RGD:1320894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12052695 LAMA4 laminin subunit alpha 4 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12052695 LAMA4 laminin subunit alpha 4 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12052737 PSMB1 proteasome 20S subunit beta 1 gene DOID:13938 amenorrhea ISO RGD:733154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12052737 PSMB1 proteasome 20S subunit beta 1 gene DOID:574 peripheral nervous system disease ISO RGD:733154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21228734 12052737 PSMB1 proteasome 20S subunit beta 1 gene DOID:630 genetic disease ISO RGD:733154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12052737 PSMB1 proteasome 20S subunit beta 1 gene DOID:8398 osteoarthritis ISO RGD:733154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12052737 PSMB1 proteasome 20S subunit beta 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:733154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 12052737 PSMB1 proteasome 20S subunit beta 1 gene DOID:9002730 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE ISO RGD:733154 D RGD:7240710 20221221 OMIM 12052737 PSMB1 proteasome 20S subunit beta 1 gene DOID:9002730 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE ISO RGD:733154 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and absent language PMID:32129449 12052747 DENND6A DENN domain containing 6A gene DOID:13938 amenorrhea ISO RGD:1606682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12052747 DENND6A DENN domain containing 6A gene DOID:630 genetic disease ISO RGD:1606682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12052747 DENND6A DENN domain containing 6A gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1606682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 12052771 MICAL2 microtubule associated monooxygenase, calponin and LIM domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1602728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12052771 MICAL2 microtubule associated monooxygenase, calponin and LIM domain containing 2 gene DOID:3007 breast ductal carcinoma ISO RGD:1602728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12052771 MICAL2 microtubule associated monooxygenase, calponin and LIM domain containing 2 gene DOID:5082 liver cirrhosis ISO RGD:1602728 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32659284 12052771 MICAL2 microtubule associated monooxygenase, calponin and LIM domain containing 2 gene DOID:630 genetic disease ISO RGD:1602728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12052824 AK2 adenylate kinase 2 gene DOID:0060020 reticular dysgenesis ISO RGD:735291 D RGD:7240710 20180130 OMIM 12052824 AK2 adenylate kinase 2 gene DOID:0060020 reticular dysgenesis ISO RGD:735291 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Reticular dysgenesis PMID:17576681|PMID:19043416|PMID:19043417|PMID:19414857|PMID:23014587|PMID:23763981|PMID:24033266|PMID:25741868|PMID:26229552|PMID:26997321|PMID:28331055|PMID:28492532|PMID:29270983|PMID:29713328|PMID:30697212|PMID:30778343|PMID:31673062|PMID:32532877|PMID:9536098 12052824 AK2 adenylate kinase 2 gene DOID:0080600 COVID-19 ISO RGD:735291 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12052824 AK2 adenylate kinase 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:735291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12052824 AK2 adenylate kinase 2 gene DOID:3328 temporal lobe epilepsy ISO RGD:2077 D RGD:9068941 20200609 RGD PMID:22246993|REF_RGD_ID:11100024 12052824 AK2 adenylate kinase 2 gene DOID:627 severe combined immunodeficiency ISO RGD:735291 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:17576681|PMID:19043416|PMID:19043417|PMID:26229552|PMID:28331055|PMID:28492532|PMID:29270983|PMID:9536098 12052824 AK2 adenylate kinase 2 gene DOID:630 genetic disease ISO RGD:735291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12052824 AK2 adenylate kinase 2 gene DOID:9008681 Deafness ISO RGD:735291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19043416 12052841 DBT dihydrolipoamide branched chain transacylase E2 gene DOID:630 genetic disease ISO RGD:68592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 12052841 DBT dihydrolipoamide branched chain transacylase E2 gene DOID:9005672 Maple Syrup Urine Disease, Type 2 ISO RGD:68592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intermediate maple syrup urine disease type 2 | ClinVar Annotator: match by term: Maple syrup urine disease type 2 | ClinVar Annotator: match by term: Maple syrup urine disease, thiamine-responsive, type II PMID:14508502|PMID:14517957|PMID:14742428|PMID:16468966|PMID:16579849|PMID:16786533|PMID:17576681|PMID:18378174|PMID:1847055|PMID:1943690|PMID:19823873|PMID:1990841|PMID:2010537|PMID:20639189|PMID:24772966|PMID:25741868|PMID:26257134|PMID:27578510|PMID:28417071|PMID:28492532|PMID:28497172|PMID:31319225|PMID:31980395|PMID:32812330|PMID:8430702|PMID:9239422|PMID:9536098|PMID:9621512 12052841 DBT dihydrolipoamide branched chain transacylase E2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68592 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12052841 DBT dihydrolipoamide branched chain transacylase E2 gene DOID:9269 maple syrup urine disease ISO RGD:68592 D RGD:7240710 20180130 OMIM 12052841 DBT dihydrolipoamide branched chain transacylase E2 gene DOID:9269 maple syrup urine disease ISO RGD:68592 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:11112664|PMID:14517957|PMID:1547285|PMID:16199547|PMID:16468966|PMID:16579849|PMID:16786533|PMID:17576681|PMID:18378174|PMID:1847055|PMID:19480318|PMID:19823873|PMID:20570198|PMID:20639189|PMID:21098507|PMID:22090376|PMID:23313820|PMID:23757202|PMID:24033266|PMID:24394677|PMID:24772966|PMID:25255367|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26589311|PMID:27243974|PMID:27518768|PMID:28417071|PMID:28492532|PMID:28497172|PMID:30228974|PMID:31119508|PMID:32193832|PMID:32812330|PMID:33123633|PMID:8430702|PMID:9239422|PMID:9536098|PMID:9621512 12052841 DBT dihydrolipoamide branched chain transacylase E2 gene DOID:9269 maple syrup urine disease ISO RGD:68592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:11112664|PMID:14508502|PMID:14517957|PMID:14741190|PMID:1547285|PMID:16199547|PMID:16468966|PMID:16579849|PMID:16786533|PMID:17576681|PMID:18378174|PMID:1847055|PMID:19480318|PMID:19823873|PMID:20307994|PMID:20570198|PMID:20639189|PMID:21098507|PMID:22090376|PMID:23757202|PMID:24033266|PMID:24268812|PMID:24304607|PMID:24394677|PMID:24772966|PMID:25255367|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26453840|PMID:26589311|PMID:27243974|PMID:27518768|PMID:27578510|PMID:28417071|PMID:28492532|PMID:28497172|PMID:30228974|PMID:31112740|PMID:31119508|PMID:31980395|PMID:32193832|PMID:32778825|PMID:32812330|PMID:33123633|PMID:33131499|PMID:33868929|PMID:34069211|PMID:8430702|PMID:9239422|PMID:9536098|PMID:9621512 12052856 ITPRID1 ITPR interacting domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12052856 ITPRID1 ITPR interacting domain containing 1 gene DOID:630 genetic disease ISO RGD:1604967 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12052885 OSR1 odd-skipped related transcription factor 1 gene DOID:630 genetic disease ISO RGD:1605876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12052903 TTL tubulin tyrosine ligase gene DOID:630 genetic disease ISO RGD:732112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12052925 TRPC4 transient receptor potential cation channel subfamily C member 4 gene DOID:10283 prostate cancer ISO RGD:733150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12052925 TRPC4 transient receptor potential cation channel subfamily C member 4 gene DOID:1324 lung cancer susceptibility ISO RGD:733150 D RGD:9068941 20220616 RGD DNA:SNPs:: (rs9547991, rs978156) (human) PMID:27617218|REF_RGD_ID:152995362 12052925 TRPC4 transient receptor potential cation channel subfamily C member 4 gene DOID:630 genetic disease ISO RGD:733150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12052925 TRPC4 transient receptor potential cation channel subfamily C member 4 gene DOID:9001820 Pulmonary Arterial Hypertension ameliorates ISO XCO:0000010|XCO:0000922 D RGD:9068941 20220210 RGD PMID:24113457|REF_RGD_ID:150429956 12052925 TRPC4 transient receptor potential cation channel subfamily C member 4 gene DOID:9008820 Visceral Pain ISO RGD:621276 D RGD:9068941 20200609 RGD PMID:24388923|REF_RGD_ID:13825245 12052942 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:732576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532 12052942 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0050451 Brugada syndrome ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:20817017|PMID:22090166|PMID:22840528|PMID:23414114|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24752249|PMID:25467552|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:26707467|PMID:27650965|PMID:27711072|PMID:28492532|PMID:30027834 12052942 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0050700 cardiomyopathy ISO RGD:732576 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:20817017|PMID:23414114|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24752249|PMID:25467552|PMID:25637381|PMID:25741868|PMID:27711072|PMID:28492532 12052942 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0050793 short QT syndrome ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short QT Syndrome 5 PMID:25741868|PMID:28492532 12052942 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0060041 autism spectrum disorder ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder 12052942 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0060319 cardiac arrest ISO RGD:732576 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:17576681|PMID:25741868|PMID:28492532|PMID:28600387|PMID:9536098 12052942 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12052942 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0110221 Brugada syndrome 4 ISO RGD:732576 D RGD:7240710 20180130 OMIM 12052942 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0110221 Brugada syndrome 4 ISO RGD:732576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome 4 PMID:17224476|PMID:17576681|PMID:19358333|PMID:20817017|PMID:22090166|PMID:22840528|PMID:23414114|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24752249|PMID:25467552|PMID:25637381|PMID:25741868|PMID:26220970|PMID:26230511|PMID:26636822|PMID:26707467|PMID:27650965|PMID:27662471|PMID:27711072|PMID:28341588|PMID:28492532|PMID:28600387|PMID:28704380|PMID:29016939|PMID:30027834|PMID:30415094|PMID:30847666|PMID:30975432|PMID:9536098 12052942 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:10273 heart conduction disease ISO RGD:732576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conduction system disorder 12052942 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:10763 hypertension susceptibility ISO RGD:732576 D RGD:9068941 20200609 RGD DNA:SNP: :rs4373814(human) PMID:24338417|REF_RGD_ID:13513987 12052942 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 12052942 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:11984 hypertrophic cardiomyopathy severity ISO RGD:732576 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.1598C>T (p.S533L)(human) PMID:28614222|REF_RGD_ID:13513985 12052942 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 12052942 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:2843 long QT syndrome ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 12052942 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:630 genetic disease ISO RGD:732576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12052942 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9000006 Supraventricular Tachycardia ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532 12052942 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23861362|PMID:28492532 12052942 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early repolarization associated with ventricular fibrillation | ClinVar Annotator: match by term: Ventricular fibrillation PMID:20817017|PMID:22840528|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:26707467|PMID:27650965|PMID:28492532|PMID:30027834 12052942 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:20817017|PMID:22090166|PMID:22840528|PMID:23414114|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24752249|PMID:25467552|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:26707467|PMID:27650965|PMID:27711072|PMID:28492532|PMID:30027834 12052942 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9003740 Nerve Injuries ISO RGD:67385 D RGD:9068941 20200609 RGD mRNA:decreased expression:dorsal root ganglion,spindal cord: PMID:22187436|REF_RGD_ID:13514092 12052942 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9004416 Paroxysmal Ventricular Fibrillation ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation PMID:20817017|PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 12052942 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:20817017|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:27711072|PMID:28492532 12052942 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 12052942 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9007820 Sudden Death ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:20817017|PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 12052967 CSK C-terminal Src kinase gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1318780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12052967 CSK C-terminal Src kinase gene DOID:2717 Bloom syndrome ISO RGD:1318780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12052967 CSK C-terminal Src kinase gene DOID:2723 dermatitis ISO RGD:1318781 D RGD:9068941 20200609 RGD PMID:14975240|REF_RGD_ID:5134363 12052967 CSK C-terminal Src kinase gene DOID:5419 schizophrenia ISO RGD:1318780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12052967 CSK C-terminal Src kinase gene DOID:552 pneumonia ISO RGD:1318781 D RGD:9068941 20200609 RGD PMID:14975240|REF_RGD_ID:5134363 12052967 CSK C-terminal Src kinase gene DOID:630 genetic disease ISO RGD:1318780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12052967 CSK C-terminal Src kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1308800 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:9918913|REF_RGD_ID:5134372 12052967 CSK C-terminal Src kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1318780 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:9918913|REF_RGD_ID:5134372 12052967 CSK C-terminal Src kinase gene DOID:9002211 Hyperalgesia ISO RGD:1318780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16769263 12052967 CSK C-terminal Src kinase gene DOID:9002221 Hyperplasia ISO RGD:1308800 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:large intestine mucosa PMID:15961079|REF_RGD_ID:5134365 12052967 CSK C-terminal Src kinase gene DOID:9002457 Experimental Arthritis ISO RGD:1308800 D RGD:9068941 20200609 RGD PMID:10411542|REF_RGD_ID:5134371 12052967 CSK C-terminal Src kinase gene DOID:9074 systemic lupus erythematosus ISO RGD:1318780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23042117 12052967 CSK C-terminal Src kinase gene DOID:9256 colorectal cancer ISO RGD:1318780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12052990 PPEF2 protein phosphatase with EF-hand domain 2 gene DOID:630 genetic disease ISO RGD:1316080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12052990 PPEF2 protein phosphatase with EF-hand domain 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1316080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 12052990 PPEF2 protein phosphatase with EF-hand domain 2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1316080 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12053017 CRYGA crystallin gamma A gene DOID:14557 primary pulmonary hypertension ISO RGD:1351411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12053017 CRYGA crystallin gamma A gene DOID:630 genetic disease ISO RGD:1351411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053017 CRYGA crystallin gamma A gene DOID:83 cataract ISO RGD:1351411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:28839118 12053017 CRYGA crystallin gamma A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12053028 CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1321512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 12053028 CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1321512 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12053028 CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 gene DOID:14780 KBG syndrome ISO RGD:1321512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31690835 12053028 CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 gene DOID:630 genetic disease ISO RGD:1321512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053028 CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1321512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12053054 ARF6 ADP ribosylation factor 6 gene DOID:630 genetic disease ISO RGD:734181 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053054 ARF6 ADP ribosylation factor 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:734181 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12053060 MAMDC4 MAM domain containing 4 gene DOID:0050777 Joubert syndrome ISO RGD:1604980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12053060 MAMDC4 MAM domain containing 4 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1604980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12053060 MAMDC4 MAM domain containing 4 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1604980 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12053060 MAMDC4 MAM domain containing 4 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1604980 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12053060 MAMDC4 MAM domain containing 4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1604980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12053060 MAMDC4 MAM domain containing 4 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1604980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12053060 MAMDC4 MAM domain containing 4 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1604980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12053060 MAMDC4 MAM domain containing 4 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1604980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12053060 MAMDC4 MAM domain containing 4 gene DOID:0081097 Rafiq syndrome ISO RGD:1604980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12053060 MAMDC4 MAM domain containing 4 gene DOID:3652 Leigh disease ISO RGD:1604980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12053060 MAMDC4 MAM domain containing 4 gene DOID:630 genetic disease ISO RGD:1604980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053060 MAMDC4 MAM domain containing 4 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1604980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12053093 KBTBD11 kelch repeat and BTB domain containing 11 gene DOID:630 genetic disease ISO RGD:1604839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053093 KBTBD11 kelch repeat and BTB domain containing 11 gene DOID:684 hepatocellular carcinoma ISO RGD:1604839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12053094 SRPX sushi repeat containing protein X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12053094 SRPX sushi repeat containing protein X-linked gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:733583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:22929960|PMID:27701760|PMID:28492532 12053094 SRPX sushi repeat containing protein X-linked gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:733583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 12053094 SRPX sushi repeat containing protein X-linked gene DOID:12849 autistic disorder ISO RGD:733583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12053094 SRPX sushi repeat containing protein X-linked gene DOID:630 genetic disease ISO RGD:733583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053094 SRPX sushi repeat containing protein X-linked gene DOID:684 hepatocellular carcinoma ISO RGD:733583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12053094 SRPX sushi repeat containing protein X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12053094 SRPX sushi repeat containing protein X-linked gene DOID:9007661 Dwarfism ISO RGD:733583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12053094 SRPX sushi repeat containing protein X-linked gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:733583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16786505|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 12053094 SRPX sushi repeat containing protein X-linked gene DOID:9562 primary ciliary dyskinesia ISO RGD:733583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:735711 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:0080074 neural tube defect ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20641098 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27565560 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:10783 methemoglobinemia ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12030840 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:13580 cholestasis ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27565560 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:1380 endometrial cancer ISO RGD:735711 D RGD:9068941 20200609 RGD DNA:SNP::differences in allele and genotype distribution for CYP1A2*1F polymorphism (p=0.00000002) PMID:18497059|REF_RGD_ID:2301045 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:1596 depressive disorder ISO RGD:2459 D RGD:9068941 20200609 RGD PMID:20595028|REF_RGD_ID:4892242 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:1612 breast cancer ISO RGD:735711 D RGD:9068941 20200609 RGD DNA:SNP::differences in allele and genotype distribution for CYP1A2*1F polymorphism (p=0.0000005) PMID:18497059|REF_RGD_ID:2301045 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:1749 squamous cell carcinoma ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22072123 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:735711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:2529 splenic disease ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961953 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:2717 Bloom syndrome ISO RGD:735711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:3021 acute kidney failure treatment ISO RGD:10438 D RGD:9068941 20200609 RGD PMID:18495746|PMID:23981375|REF_RGD_ID:7257727|REF_RGD_ID:7257735 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20797314 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:735711 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-3860G>A (human) PMID:20080081|REF_RGD_ID:4293707 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:3132 porphyria cutanea tarda ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11153915 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:3132 porphyria cutanea tarda ISO RGD:735711 D RGD:9068941 20200609 RGD PMID:20957336|REF_RGD_ID:11576316 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:409 liver disease ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12969438 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:5082 liver cirrhosis ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27565560 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:5419 schizophrenia ISO RGD:735711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:630 genetic disease ISO RGD:735711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9000310 Lung Injury ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25703676 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9001312 Tardive Dyskinesia treatment ISO RGD:735711 D RGD:9068941 20200609 RGD associated with schizophrenia PMID:10889552|REF_RGD_ID:1358545 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11376689|PMID:21147764 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9002720 Splenomegaly ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10445756 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9004462 Atrophy ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961953 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9004484 Sepsis ISO RGD:2459 D RGD:9068941 20200609 RGD PMID:15665729|PMID:18360687|REF_RGD_ID:2303376|REF_RGD_ID:5147745 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9004898 Jaundice ISO RGD:2459 D RGD:9068941 20200609 RGD PMID:8502229|REF_RGD_ID:11576308 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9004898 Jaundice ISO RGD:2459 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:18442205|REF_RGD_ID:2303375 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9005172 Lung Neoplasms ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22072123 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9005369 Hepatomegaly ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10445756 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9006257 Growth Disorders ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961953 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10445756 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28762043 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9007703 Phenacetin O-Deethylase, Deficiency of IAGP D RGD:12801476 20230510 OMIA Metabolizer of a cognitive enhancer PMID:15564884|PMID:14744947|PMID:15742977|PMID:16882764|PMID:16473917|PMID:37144920 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21081473 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9008691 Liver Injury ISO RGD:2459 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:26590097|REF_RGD_ID:11576319 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9256 colorectal cancer ISO RGD:735711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22244987 12053109 CYP1A2 cytochrome P450 family 1 subfamily A member 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22674224 12053130 CRYGS crystallin gamma S gene DOID:0060575 3MC syndrome 1 ISO RGD:1320030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 12053130 CRYGS crystallin gamma S gene DOID:0110240 cataract 20 multiple types ISO RGD:1320030 D RGD:7240710 20180130 OMIM 12053130 CRYGS crystallin gamma S gene DOID:0110240 cataract 20 multiple types ISO RGD:1320030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 20 multiple types PMID:16141006|PMID:18587492|PMID:19262743|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29964096 12053130 CRYGS crystallin gamma S gene DOID:630 genetic disease ISO RGD:1320030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28166811|PMID:28492532 12053130 CRYGS crystallin gamma S gene DOID:83 cataract ISO RGD:1320030 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16141006 12053147 TSC22D4 TSC22 domain family member 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12053154 ATG4B autophagy related 4B cysteine peptidase gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1320126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12053154 ATG4B autophagy related 4B cysteine peptidase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1320126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12053154 ATG4B autophagy related 4B cysteine peptidase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1320126 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12053154 ATG4B autophagy related 4B cysteine peptidase gene DOID:1059 intellectual disability ISO RGD:1320126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12053154 ATG4B autophagy related 4B cysteine peptidase gene DOID:630 genetic disease ISO RGD:1320126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053154 ATG4B autophagy related 4B cysteine peptidase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1320126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12053171 ZNF704 zinc finger protein 704 gene DOID:630 genetic disease ISO RGD:1605749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053193 NCBP3 nuclear cap binding subunit 3 gene DOID:3613 Canavan disease ISO RGD:1604808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:12638939|PMID:19932039|PMID:28492532 12053193 NCBP3 nuclear cap binding subunit 3 gene DOID:630 genetic disease ISO RGD:1604808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053214 ZBTB41 zinc finger and BTB domain containing 41 gene DOID:0110358 retinitis pigmentosa 12 ISO RGD:1603485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:10508521|PMID:17964524|PMID:22065545|PMID:23379534|PMID:25412400|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521 12053214 ZBTB41 zinc finger and BTB domain containing 41 gene DOID:1540 parathyroid carcinoma ISO RGD:1603485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12053214 ZBTB41 zinc finger and BTB domain containing 41 gene DOID:630 genetic disease ISO RGD:1603485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053214 ZBTB41 zinc finger and BTB domain containing 41 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12053234 OR4K15 olfactory receptor family 4 subfamily K member 15 gene DOID:630 genetic disease ISO RGD:1351884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053241 OR14I2 olfactory receptor family 14 subfamily I member 2 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1349157 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12053241 OR14I2 olfactory receptor family 14 subfamily I member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1349157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12053241 OR14I2 olfactory receptor family 14 subfamily I member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12053252 LOC100687722 ribosomal protein, large, P1 pseudogene gene DOID:2717 Bloom syndrome ISO RGD:736952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12053252 LOC100687722 ribosomal protein, large, P1 pseudogene gene DOID:630 genetic disease ISO RGD:736952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053252 LOC100687722 ribosomal protein, large, P1 pseudogene gene DOID:9256 colorectal cancer ISO RGD:736952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12053254 ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:0050777 Joubert syndrome ISO RGD:1602162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12053254 ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1602162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12053254 ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1602162 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12053254 ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1602162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12053254 ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1602162 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12053254 ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:0081097 Rafiq syndrome ISO RGD:1602162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12053254 ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:1826 epilepsy ISO RGD:1602162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12053254 ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:630 genetic disease ISO RGD:1602162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053254 ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1602162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12053283 MIR136 microRNA mir-136 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1349910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 12053283 MIR136 microRNA mir-136 gene DOID:1324 lung cancer ISO RGD:1608336 D RGD:9068941 20220715 RGD RNA:increased expression:lung (human) PMID:20237410|REF_RGD_ID:152995484 12053283 MIR136 microRNA mir-136 gene DOID:1324 lung cancer ameliorates ISO RGD:1349910 D RGD:9068941 20220915 RGD human cells in mouse model PMID:34258296|REF_RGD_ID:153350142 12053283 MIR136 microRNA mir-136 gene DOID:219 colon cancer ISO RGD:1349910 D RGD:9068941 20220901 RGD RNA:decreased expression:colon (human) PMID:28710032|REF_RGD_ID:153344627 12053283 MIR136 microRNA mir-136 gene DOID:219 colon cancer disease_progression ISO RGD:1349910 D RGD:9068941 20220902 RGD RNA:decreased expression:colon (human) PMID:29339925|REF_RGD_ID:153345546 12053283 MIR136 microRNA mir-136 gene DOID:2876 laryngeal squamous cell carcinoma ISO RGD:1349910 D RGD:9068941 20220901 RGD RNA:decreased expression:larynx (human) PMID:32014687|REF_RGD_ID:153344610 12053283 MIR136 microRNA mir-136 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1349910 D RGD:9068941 20220901 RGD RNA:decreased expression:lung (human) PMID:31059060|REF_RGD_ID:153344623 12053283 MIR136 microRNA mir-136 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1349910 D RGD:9068941 20220915 RGD human cells in mouse model PMID:34556984|REF_RGD_ID:153344608 12053283 MIR136 microRNA mir-136 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1349910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12053283 MIR136 microRNA mir-136 gene DOID:630 genetic disease ISO RGD:1349910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053283 MIR136 microRNA mir-136 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1349910 D RGD:9068941 20220902 RGD RNA:decreased expression:liver (human) PMID:28849100|REF_RGD_ID:153345547 12053283 MIR136 microRNA mir-136 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1349910 D RGD:9068941 20220901 RGD associated with stomach cancer;human cells in mouse model PMID:28656883|REF_RGD_ID:153344628 12053283 MIR136 microRNA mir-136 gene DOID:9005172 Lung Neoplasms ISO RGD:1349910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12053283 MIR136 microRNA mir-136 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1349910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 12053283 MIR136 microRNA mir-136 gene DOID:9007787 Carcinoid Tumor ISO RGD:1349910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12053283 MIR136 microRNA mir-136 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1349910 D RGD:9068941 20220908 RGD human cells in mouse model PMID:34974791|REF_RGD_ID:153344629 12053351 CAPSL calcyphosine like gene DOID:630 genetic disease ISO RGD:1601932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053351 CAPSL calcyphosine like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12053380 AHCY adenosylhomocysteinase gene DOID:0050544 hypermethioninemia ISO RGD:731745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypermethioninemia PMID:25741868 12053380 AHCY adenosylhomocysteinase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:731745 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29127188 12053380 AHCY adenosylhomocysteinase gene DOID:0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ISO RGD:731745 D RGD:7240710 20180130 OMIM 12053380 AHCY adenosylhomocysteinase gene DOID:0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ISO RGD:731745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase PMID:15024124|PMID:16736098|PMID:16872278|PMID:17576681|PMID:18211827|PMID:19177456|PMID:19619139|PMID:20385918|PMID:20852937|PMID:22959829|PMID:24033266|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132|PMID:28779239|PMID:29205322|PMID:33072517|PMID:9536098 12053380 AHCY adenosylhomocysteinase gene DOID:10763 hypertension ISO RGD:736014 D RGD:9068941 20200609 RGD associated with hyperhomocysteinemia PMID:16815886|REF_RGD_ID:1601153 12053380 AHCY adenosylhomocysteinase gene DOID:2843 long QT syndrome ISO RGD:731745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12053380 AHCY adenosylhomocysteinase gene DOID:3910 lung adenocarcinoma ISO RGD:731745 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12053380 AHCY adenosylhomocysteinase gene DOID:630 genetic disease ISO RGD:731745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15024124|PMID:16736098|PMID:16872278|PMID:18211827|PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:24033266|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132|PMID:28779239|PMID:29205322|PMID:33072517 12053380 AHCY adenosylhomocysteinase gene DOID:8455 pyridoxine deficiency anemia ISO RGD:69260 D RGD:9068941 20200609 RGD PMID:11575573|REF_RGD_ID:1598897 12053380 AHCY adenosylhomocysteinase gene DOID:893 Wilson disease ISO RGD:731745 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 12053380 AHCY adenosylhomocysteinase gene DOID:9000884 Rhabdomyolysis ISO RGD:731745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:15024124|PMID:16736098|PMID:16872278|PMID:18211827|PMID:25741868|PMID:28492532|PMID:28647132|PMID:28779239|PMID:33072517 12053380 AHCY adenosylhomocysteinase gene DOID:9002457 Experimental Arthritis ISO RGD:69260 D RGD:9068941 20200609 RGD PMID:11123369|REF_RGD_ID:1598898 12053380 AHCY adenosylhomocysteinase gene DOID:9002669 Hypoxia ISO RGD:731745 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 12053380 AHCY adenosylhomocysteinase gene DOID:9003687 Multisystem Autoimmune Disease with Facial Dysmorphism ISO RGD:731745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM PMID:28492532 12053380 AHCY adenosylhomocysteinase gene DOID:9006205 Animal Disease Models ISO RGD:731745 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12053380 AHCY adenosylhomocysteinase gene DOID:9008294 Skin/Hair/Eye Pigmentation, Variation In, 9 ISO RGD:731745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR PMID:11833005|PMID:18488028 12053380 AHCY adenosylhomocysteinase gene DOID:9252 amino acid metabolic disorder ISO RGD:731745 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15024124 12053380 AHCY adenosylhomocysteinase gene DOID:9279 hyperhomocysteinemia ISO RGD:69260 D RGD:9068941 20200609 RGD PMID:12208805|REF_RGD_ID:1598896 12053393 CD40 CD40 molecule gene DOID:0050169 cutaneous lupus erythematosus ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 12053393 CD40 CD40 molecule gene DOID:0050175 tick-borne encephalitis ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:16463218|REF_RGD_ID:11352252 12053393 CD40 CD40 molecule gene DOID:0050185 erythema multiforme ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 12053393 CD40 CD40 molecule gene DOID:0050745 diffuse large B-cell lymphoma susceptibility ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) PMID:20473910|REF_RGD_ID:5490541 12053393 CD40 CD40 molecule gene DOID:0050873 follicular lymphoma susceptibility ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) PMID:20473910|REF_RGD_ID:5490541 12053393 CD40 CD40 molecule gene DOID:0050908 myelodysplastic syndrome ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, monocyte (human) PMID:17805323|REF_RGD_ID:11520793 12053393 CD40 CD40 molecule gene DOID:0060023 immunodeficiency with hyper IgM type 3 ISO RGD:1604657 D RGD:7240710 20190911 OMIM 12053393 CD40 CD40 molecule gene DOID:0060023 immunodeficiency with hyper IgM type 3 ISO RGD:1604657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3 PMID:11675497|PMID:12584544|PMID:12593727|PMID:14611700|PMID:15272925|PMID:15307939|PMID:15731360|PMID:17344890|PMID:17949264|PMID:18446002|PMID:20702779|PMID:24033266|PMID:25741868|PMID:28492532 12053393 CD40 CD40 molecule gene DOID:0060060 non-Hodgkin lymphoma treatment ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:19636010|REF_RGD_ID:11522746 12053393 CD40 CD40 molecule gene DOID:0060180 colitis ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:15591506|REF_RGD_ID:5508169 12053393 CD40 CD40 molecule gene DOID:0060224 atrial fibrillation treatment ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:17392495|REF_RGD_ID:8547746 12053393 CD40 CD40 molecule gene DOID:0060903 thrombosis ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:21914625|REF_RGD_ID:5490522 12053393 CD40 CD40 molecule gene DOID:0080162 lupus nephritis treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:18566369|PMID:19265127|PMID:23799000|REF_RGD_ID:7248418|REF_RGD_ID:7248425|REF_RGD_ID:7248429 12053393 CD40 CD40 molecule gene DOID:0080544 hyper IgM syndrome ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12053393 CD40 CD40 molecule gene DOID:0081267 graft-versus-host disease treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:18981161|REF_RGD_ID:7248735 12053393 CD40 CD40 molecule gene DOID:10223 dermatomyositis ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 12053393 CD40 CD40 molecule gene DOID:10591 pre-eclampsia ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:blood, monocyte (human) PMID:19221099|REF_RGD_ID:11520792 12053393 CD40 CD40 molecule gene DOID:10652 Alzheimer's disease ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:21414686|REF_RGD_ID:5490302 12053393 CD40 CD40 molecule gene DOID:10976 membranous glomerulonephritis treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:23223173|REF_RGD_ID:8547786 12053393 CD40 CD40 molecule gene DOID:10976 membranous glomerulonephritis treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:23223173|REF_RGD_ID:8547786 12053393 CD40 CD40 molecule gene DOID:11263 chlamydia ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:20102413|REF_RGD_ID:5132268 12053393 CD40 CD40 molecule gene DOID:11339 pneumocystosis treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:10968950|REF_RGD_ID:8547797 12053393 CD40 CD40 molecule gene DOID:12053 cryptococcosis treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:16552046|REF_RGD_ID:7248435 12053393 CD40 CD40 molecule gene DOID:12361 Graves' disease ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:-1C>T (human) PMID:12593727|REF_RGD_ID:8547766 12053393 CD40 CD40 molecule gene DOID:12361 Graves' disease no_association ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:-1C>T (human) PMID:15307939|REF_RGD_ID:8547769 12053393 CD40 CD40 molecule gene DOID:12361 Graves' disease onset ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP PMID:18755875|REF_RGD_ID:8547778 12053393 CD40 CD40 molecule gene DOID:12365 malaria severity ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:11485931|REF_RGD_ID:11352239 12053393 CD40 CD40 molecule gene DOID:12930 dilated cardiomyopathy ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:9495297|REF_RGD_ID:13702889 12053393 CD40 CD40 molecule gene DOID:13139 crescentic glomerulonephritis ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:14569091|REF_RGD_ID:7248599 12053393 CD40 CD40 molecule gene DOID:13378 Kawasaki disease ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446961|PMID:22446962 12053393 CD40 CD40 molecule gene DOID:13378 Kawasaki disease susceptibility ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:intron:c.51+1066C>T, (rs1535045) (human) PMID:22645426|REF_RGD_ID:8547776 12053393 CD40 CD40 molecule gene DOID:1790 malignant mesothelioma treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:22002241|REF_RGD_ID:11522742 12053393 CD40 CD40 molecule gene DOID:1824 status epilepticus ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18455351 12053393 CD40 CD40 molecule gene DOID:1909 melanoma treatment ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:17327609|REF_RGD_ID:11522745 12053393 CD40 CD40 molecule gene DOID:1909 melanoma treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:22421945|REF_RGD_ID:11522740 12053393 CD40 CD40 molecule gene DOID:1936 atherosclerosis ISO RGD:1615152 D RGD:9068941 20200609 RGD associated with Gram-Negative Bacterial Infections;protein:increased expression:aorta PMID:20505314|REF_RGD_ID:5490534 12053393 CD40 CD40 molecule gene DOID:1936 atherosclerosis ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:16317521|REF_RGD_ID:1582628 12053393 CD40 CD40 molecule gene DOID:2018 hyperinsulinism ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 12053393 CD40 CD40 molecule gene DOID:2234 focal epilepsy ISO RGD:1604657 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12053393 CD40 CD40 molecule gene DOID:224 transient cerebral ischemia severity ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:15795333|REF_RGD_ID:11352234 12053393 CD40 CD40 molecule gene DOID:2377 multiple sclerosis ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19525955 12053393 CD40 CD40 molecule gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) PMID:20634952|REF_RGD_ID:5490971 12053393 CD40 CD40 molecule gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:enhancer:g.-6787C>T (rs6074022) (human) PMID:20190274|REF_RGD_ID:5490975 12053393 CD40 CD40 molecule gene DOID:2841 asthma ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:19159017|PMID:19220210|REF_RGD_ID:4144188|REF_RGD_ID:5132272 12053393 CD40 CD40 molecule gene DOID:2841 asthma ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:20941750|REF_RGD_ID:4892277 12053393 CD40 CD40 molecule gene DOID:2841 asthma treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:20205594|REF_RGD_ID:8547792 12053393 CD40 CD40 molecule gene DOID:2942 bronchiolitis ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:19470255|REF_RGD_ID:5132271 12053393 CD40 CD40 molecule gene DOID:2959 hyperimmunoglobulin syndrome ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:mutations:exons (human) PMID:11675497|REF_RGD_ID:1599479 12053393 CD40 CD40 molecule gene DOID:2972 renal artery obstruction disease_progression ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:23399713|REF_RGD_ID:7248419 12053393 CD40 CD40 molecule gene DOID:3070 high grade glioma treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:24878890|REF_RGD_ID:11352275 12053393 CD40 CD40 molecule gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:20699612|REF_RGD_ID:5490968 12053393 CD40 CD40 molecule gene DOID:3310 atopic dermatitis ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:18693155|REF_RGD_ID:5132274 12053393 CD40 CD40 molecule gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:21436454|REF_RGD_ID:5490301 12053393 CD40 CD40 molecule gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:dendritic cell PMID:20976171|REF_RGD_ID:5490524 12053393 CD40 CD40 molecule gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:21436454|REF_RGD_ID:5490301 12053393 CD40 CD40 molecule gene DOID:3587 pancreatic ductal carcinoma treatment ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:23983255|REF_RGD_ID:11522743 12053393 CD40 CD40 molecule gene DOID:3892 insulinoma ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:17982058|REF_RGD_ID:5491180 12053393 CD40 CD40 molecule gene DOID:3951 acute myocarditis ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:9495297|REF_RGD_ID:13702889 12053393 CD40 CD40 molecule gene DOID:4195 hyperglycemia ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 12053393 CD40 CD40 molecule gene DOID:4450 renal cell carcinoma treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:12594303|PMID:15282531|PMID:20426873|REF_RGD_ID:11522744|REF_RGD_ID:7248440|REF_RGD_ID:7248724 12053393 CD40 CD40 molecule gene DOID:4481 allergic rhinitis ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:lymphocyte PMID:19086656|REF_RGD_ID:8547782 12053393 CD40 CD40 molecule gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:15210767|REF_RGD_ID:7248442 12053393 CD40 CD40 molecule gene DOID:5050 Ehrlich tumor carcinoma treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:19269163|REF_RGD_ID:11352683 12053393 CD40 CD40 molecule gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:plasmacytoid dendritic cell PMID:20559432|REF_RGD_ID:5490533 12053393 CD40 CD40 molecule gene DOID:630 genetic disease ISO RGD:1604657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12053393 CD40 CD40 molecule gene DOID:6432 pulmonary hypertension treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:25998782|REF_RGD_ID:11344970 12053393 CD40 CD40 molecule gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1604657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome 12053393 CD40 CD40 molecule gene DOID:707 B-cell lymphoma ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:20616215|REF_RGD_ID:5490532 12053393 CD40 CD40 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18794853|PMID:20453842|PMID:23143596 12053393 CD40 CD40 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP: :rs4810485 (human) PMID:20498205|REF_RGD_ID:5490972 12053393 CD40 CD40 molecule gene DOID:783 end stage renal disease severity ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20846521|REF_RGD_ID:7248723 12053393 CD40 CD40 molecule gene DOID:783 end stage renal disease treatment ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:12941150|REF_RGD_ID:7248709 12053393 CD40 CD40 molecule gene DOID:7998 hyperthyroidism treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:16756463|REF_RGD_ID:8547761 12053393 CD40 CD40 molecule gene DOID:8283 peritonitis ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:15780086|REF_RGD_ID:7248438 12053393 CD40 CD40 molecule gene DOID:848 arthritis ISO RGD:1604657 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;DNA:SNP: :rs73115010, rs6074028 (human) PMID:23256180|REF_RGD_ID:7248721 12053393 CD40 CD40 molecule gene DOID:8552 chronic myeloid leukemia ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, dendritic cell (human) PMID:16527350|REF_RGD_ID:11520794 12053393 CD40 CD40 molecule gene DOID:8567 Hodgkin's lymphoma ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7621881 12053393 CD40 CD40 molecule gene DOID:8577 ulcerative colitis ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:intestine, epithelial cell PMID:20133813|REF_RGD_ID:5490590 12053393 CD40 CD40 molecule gene DOID:8584 Burkitt lymphoma treatment ISO RGD:1604657 D RGD:9068941 20200609 RGD human cell line in a mouse model PMID:9192773|REF_RGD_ID:11520790 12053393 CD40 CD40 molecule gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:619830 D RGD:9068941 20200609 RGD protein:decreased expression:ileum PMID:21240009|REF_RGD_ID:5490305 12053393 CD40 CD40 molecule gene DOID:874 bacterial pneumonia ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:20102413|REF_RGD_ID:5132268 12053393 CD40 CD40 molecule gene DOID:8778 Crohn's disease ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:intestine, epithelial cell PMID:20133813|REF_RGD_ID:5490590 12053393 CD40 CD40 molecule gene DOID:8778 Crohn's disease susceptibility ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) PMID:20634952|REF_RGD_ID:5490971 12053393 CD40 CD40 molecule gene DOID:8893 psoriasis susceptibility ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs4810485) (human) PMID:21645569|REF_RGD_ID:5490300 12053393 CD40 CD40 molecule gene DOID:8923 skin melanoma disease_progression ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:8952530|REF_RGD_ID:8547772 12053393 CD40 CD40 molecule gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, B lymphocyte (human) PMID:17654056|REF_RGD_ID:11344977 12053393 CD40 CD40 molecule gene DOID:9000081 Lymphatic Metastasis ISO RGD:1604657 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:snps:5' utr, intron:c.-1T>C, c.51+914T>G (rs1883832, rs4810485) (human) PMID:21912605|REF_RGD_ID:8547780 12053393 CD40 CD40 molecule gene DOID:9000403 Animal Mammary Neoplasms treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:15922965|REF_RGD_ID:8547789 12053393 CD40 CD40 molecule gene DOID:9000469 Viral Myocarditis ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:10440754|REF_RGD_ID:13702887 12053393 CD40 CD40 molecule gene DOID:9000808 Hypercholesterolemia ISO RGD:619830 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21574786|REF_RGD_ID:7248754 12053393 CD40 CD40 molecule gene DOID:9000808 Hypercholesterolemia treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:21574786|REF_RGD_ID:7248754 12053393 CD40 CD40 molecule gene DOID:9000998 Brain Injuries treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:23924471|REF_RGD_ID:7248749 12053393 CD40 CD40 molecule gene DOID:9001488 Human Influenza ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:19922665|REF_RGD_ID:5132270 12053393 CD40 CD40 molecule gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:rs1883832 (human) PMID:21091218|REF_RGD_ID:5490523 12053393 CD40 CD40 molecule gene DOID:9002153 Chronic Allograft Dysfunction treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:22826618|REF_RGD_ID:11352297 12053393 CD40 CD40 molecule gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:14741776|REF_RGD_ID:8547795 12053393 CD40 CD40 molecule gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:20616215|REF_RGD_ID:5490532 12053393 CD40 CD40 molecule gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:25297507|REF_RGD_ID:13702884 12053393 CD40 CD40 molecule gene DOID:9002457 Experimental Arthritis ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:20435931|REF_RGD_ID:5490544 12053393 CD40 CD40 molecule gene DOID:9002605 Delayed Hypersensitivity ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:15210767|REF_RGD_ID:7248442 12053393 CD40 CD40 molecule gene DOID:9002869 Schistosomiasis Mansoni treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:10623823|REF_RGD_ID:11520789 12053393 CD40 CD40 molecule gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:20226305|REF_RGD_ID:5132269 12053393 CD40 CD40 molecule gene DOID:9004009 Reperfusion Injury ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:12388354|REF_RGD_ID:5508171 12053393 CD40 CD40 molecule gene DOID:9004283 Transplant Rejection disease_progression ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:15221125|REF_RGD_ID:7248441 12053393 CD40 CD40 molecule gene DOID:9004283 Transplant Rejection treatment ISO RGD:1604657 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:14698004|REF_RGD_ID:8547788 12053393 CD40 CD40 molecule gene DOID:9004283 Transplant Rejection treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:21472009|REF_RGD_ID:7248755 12053393 CD40 CD40 molecule gene DOID:9004484 Sepsis ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:decreased nitrosylation:monocyte PMID:20473113|REF_RGD_ID:5490974 12053393 CD40 CD40 molecule gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:21137078|REF_RGD_ID:8547744 12053393 CD40 CD40 molecule gene DOID:9005372 Inflammation ISO RGD:1615152 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:17804565|REF_RGD_ID:8547791 12053393 CD40 CD40 molecule gene DOID:9005930 Endotoxemia ISO RGD:1615152 D RGD:9068941 20200609 RGD protein:decreased nitrosylation:macrophage PMID:20473113|REF_RGD_ID:5490974 12053393 CD40 CD40 molecule gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:25993320|REF_RGD_ID:11251055 12053393 CD40 CD40 molecule gene DOID:9006332 Vascular Calcification ISO RGD:1604657 D RGD:9068941 20200609 RGD associated with Coronary Artery Disease PMID:16494885|REF_RGD_ID:7248436 12053393 CD40 CD40 molecule gene DOID:9006372 Animal Helminthiasis ISO RGD:1615152 D RGD:9068941 20200609 RGD protein:increased expression:plasmacytoid dendritic cell PMID:20702728|REF_RGD_ID:5490530 12053393 CD40 CD40 molecule gene DOID:9006623 Murine Acquired Immunodeficiency Syndrome susceptibility ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:12438641|REF_RGD_ID:11520795 12053393 CD40 CD40 molecule gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:17188497|REF_RGD_ID:5491181 12053393 CD40 CD40 molecule gene DOID:9006779 Discoid Lupus Erythematosus ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 12053393 CD40 CD40 molecule gene DOID:9006939 Lyme Neuroborreliosis ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:16463218|REF_RGD_ID:11352252 12053393 CD40 CD40 molecule gene DOID:9007096 Stroke ISO RGD:1604657 D RGD:9068941 20200609 RGD associated with Hypertension PMID:20456428|REF_RGD_ID:5490543 12053393 CD40 CD40 molecule gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:19565716|REF_RGD_ID:11352677 12053393 CD40 CD40 molecule gene DOID:9007110 Subacute Combined Degeneration ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:16716410|REF_RGD_ID:2313422 12053393 CD40 CD40 molecule gene DOID:9007110 Subacute Combined Degeneration treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:16716410|REF_RGD_ID:2313422 12053393 CD40 CD40 molecule gene DOID:9007355 Hashimoto Disease ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17558708|REF_RGD_ID:8547767 12053393 CD40 CD40 molecule gene DOID:9007692 Insulin Resistance ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 12053393 CD40 CD40 molecule gene DOID:9007899 Animal Viral Hepatitis severity ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:21360722|REF_RGD_ID:5490303 12053393 CD40 CD40 molecule gene DOID:9008538 Neisseriaceae Infections ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:19202131|REF_RGD_ID:5132273 12053393 CD40 CD40 molecule gene DOID:9008939 Breast Neoplasms ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043144 12053393 CD40 CD40 molecule gene DOID:9074 systemic lupus erythematosus ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP: :rs3765456 (human) PMID:23256180|REF_RGD_ID:7248721 12053393 CD40 CD40 molecule gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP: :rs4810485 (human) PMID:21914625|REF_RGD_ID:5490522 12053393 CD40 CD40 molecule gene DOID:9146 visceral leishmaniasis treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:14573667|REF_RGD_ID:8547750 12053393 CD40 CD40 molecule gene DOID:9182 pemphigus ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:21255096|REF_RGD_ID:5490304 12053393 CD40 CD40 molecule gene DOID:9201 lichen planus ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 12053393 CD40 CD40 molecule gene DOID:9513 plasma cell leukemia ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:20616215|REF_RGD_ID:5490532 12053393 CD40 CD40 molecule gene DOID:9538 multiple myeloma treatment ISO RGD:1604657 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:10866315|REF_RGD_ID:11522720 12053393 CD40 CD40 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22505539|REF_RGD_ID:6893375 12053393 CD40 CD40 molecule gene DOID:9970 obesity ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 12053393 CD40 CD40 molecule gene DOID:9970 obesity treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:21670556|REF_RGD_ID:7248753 12053393 Cd40 CD40 molecule gene DOID:1936 atherosclerosis treatment ISO RGD:619830 D RGD:9068941 20200609 RGD associated with Hypercholesterolemia PMID:23984971|REF_RGD_ID:8547801 12053427 MTPN myotrophin gene DOID:10763 hypertension ISO RGD:619806 D RGD:9068941 20200609 RGD PMID:12031792|PMID:12419325|REF_RGD_ID:1581046|REF_RGD_ID:632799 12053427 MTPN myotrophin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732852 D RGD:9068941 20220825 MouseDO 12053427 MTPN myotrophin gene DOID:12930 dilated cardiomyopathy ISO RGD:1603905 D RGD:9068941 20200609 RGD PMID:8508536|REF_RGD_ID:1581048 12053427 MTPN myotrophin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12053427 MTPN myotrophin gene DOID:6000 congestive heart failure ISO RGD:732852 D RGD:9068941 20220825 MouseDO 12053427 MTPN myotrophin gene DOID:630 genetic disease ISO RGD:1603905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053427 MTPN myotrophin gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:619806 D RGD:9068941 20200609 RGD PMID:10329199|REF_RGD_ID:1581047 12053427 MTPN myotrophin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603905 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12053435 ACYP2 acylphosphatase 2 gene DOID:0060645 chronic recurrent multifocal osteomyelitis ISO RGD:1350765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic osteomyelitis 12053435 ACYP2 acylphosphatase 2 gene DOID:630 genetic disease ISO RGD:1350765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053435 ACYP2 acylphosphatase 2 gene DOID:9004673 Hearing Loss, Cisplatin-Induced ISO RGD:1350765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25665007 12053455 AQP7 aquaporin 7 gene DOID:0060180 colitis ISO RGD:736375 D RGD:9068941 20200609 RGD associated with Infection;mRNA, protein:decreased expression:colon PMID:15338270|REF_RGD_ID:1626292 12053455 AQP7 aquaporin 7 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:736375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12053455 AQP7 aquaporin 7 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:736375 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12053455 AQP7 aquaporin 7 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:736375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12053455 AQP7 aquaporin 7 gene DOID:11981 morbid obesity ISO RGD:736375 D RGD:9068941 20200609 RGD mRNA:decreased expression:subcutaneous adipose tissue PMID:17566090|REF_RGD_ID:1626289 12053455 AQP7 aquaporin 7 gene DOID:684 hepatocellular carcinoma ISO RGD:736375 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:24033266 12053455 AQP7 aquaporin 7 gene DOID:8577 ulcerative colitis severity ISO RGD:736375 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:colon PMID:15338270|REF_RGD_ID:1626292 12053455 AQP7 aquaporin 7 gene DOID:8778 Crohn's disease severity ISO RGD:736375 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:colon PMID:15338270|REF_RGD_ID:1626292 12053455 AQP7 aquaporin 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 12053455 AQP7 aquaporin 7 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736375 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle: PMID:29783856|REF_RGD_ID:13782361 12053455 AQP7 aquaporin 7 gene DOID:9562 primary ciliary dyskinesia ISO RGD:736375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12053455 AQP7 aquaporin 7 gene DOID:9870 galactosemia ISO RGD:736375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12053455 AQP7 aquaporin 7 gene DOID:9970 obesity ISO RGD:736375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16325777 12053478 ACOT8 acyl-CoA thioesterase 8 gene DOID:2234 focal epilepsy ISO RGD:70372 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12053478 ACOT8 acyl-CoA thioesterase 8 gene DOID:630 genetic disease ISO RGD:70372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053478 ACOT8 acyl-CoA thioesterase 8 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:70372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12053488 TRAPPC13 trafficking protein particle complex subunit 13 gene DOID:630 genetic disease ISO RGD:1605046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053488 TRAPPC13 trafficking protein particle complex subunit 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12053515 HNRNPD heterogeneous nuclear ribonucleoprotein D gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:733451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 12053515 HNRNPD heterogeneous nuclear ribonucleoprotein D gene DOID:4676 uremia treatment ISO RGD:620365 D RGD:9068941 20200609 RGD PMID:16291838|REF_RGD_ID:10042968 12053515 HNRNPD heterogeneous nuclear ribonucleoprotein D gene DOID:630 genetic disease ISO RGD:733451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053515 HNRNPD heterogeneous nuclear ribonucleoprotein D gene DOID:684 hepatocellular carcinoma ISO RGD:620365 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:22318685|REF_RGD_ID:10042977 12053515 HNRNPD heterogeneous nuclear ribonucleoprotein D gene DOID:684 hepatocellular carcinoma ISO RGD:733451 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:20102719|REF_RGD_ID:10042969 12053515 HNRNPD heterogeneous nuclear ribonucleoprotein D gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:733451 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12053538 CMSS1 cms1 ribosomal small subunit homolog gene DOID:630 genetic disease ISO RGD:1601841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053566 LOC479185 zinc finger protein 25 gene DOID:630 genetic disease ISO RGD:1344079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053585 SAR1A secretion associated Ras related GTPase 1A gene DOID:630 genetic disease ISO RGD:1316504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053595 HYOU1 hypoxia up-regulated 1 gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:1606826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 12053595 HYOU1 hypoxia up-regulated 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1606826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12053595 HYOU1 hypoxia up-regulated 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1606826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12053595 HYOU1 hypoxia up-regulated 1 gene DOID:0080690 RASopathy ISO RGD:1606826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12053595 HYOU1 hypoxia up-regulated 1 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1606826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12053595 HYOU1 hypoxia up-regulated 1 gene DOID:0110651 long QT syndrome 10 ISO RGD:1606826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12053595 HYOU1 hypoxia up-regulated 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1606826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12053595 HYOU1 hypoxia up-regulated 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1606826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12053595 HYOU1 hypoxia up-regulated 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1606826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12053595 HYOU1 hypoxia up-regulated 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1606826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12053595 HYOU1 hypoxia up-regulated 1 gene DOID:0111974 immunodeficiency 59 ISO RGD:1606826 D RGD:7240710 20200826 OMIM 12053595 HYOU1 hypoxia up-regulated 1 gene DOID:0111974 immunodeficiency 59 ISO RGD:1606826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality PMID:25741868|PMID:27913302|PMID:28492532 12053595 HYOU1 hypoxia up-regulated 1 gene DOID:5419 schizophrenia ISO RGD:1606826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12053595 HYOU1 hypoxia up-regulated 1 gene DOID:630 genetic disease ISO RGD:1606826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12053595 HYOU1 hypoxia up-regulated 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12053595 HYOU1 hypoxia up-regulated 1 gene DOID:9007661 Dwarfism ISO RGD:1606826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12053632 RBMS2 RNA binding motif single stranded interacting protein 2 gene DOID:630 genetic disease ISO RGD:1312477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053679 EXOC3L2 exocyst complex component 3 like 2 gene DOID:0050778 Meckel syndrome ISO RGD:1605316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 12053679 EXOC3L2 exocyst complex component 3 like 2 gene DOID:630 genetic disease ISO RGD:1605316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12053693 VSTM2B V-set and transmembrane domain containing 2B gene DOID:630 genetic disease ISO RGD:1626689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053700 SYNPR synaptoporin gene DOID:630 genetic disease ISO RGD:731737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053713 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:0050572 cone-rod dystrophy ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:18313024|PMID:20603202|PMID:24355708|PMID:25480986|PMID:25741868|PMID:28492532|PMID:31135245|PMID:31712030|PMID:3963113|PMID:8053762 12053713 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:0050952 spastic ataxia ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532|PMID:32579787 12053713 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:0080490 mucolipidosis type IV ISO RGD:1605701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:25741868|PMID:26467025|PMID:28492532 12053713 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25033069|PMID:25359264|PMID:25741868|PMID:28492532 12053713 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1605701 D RGD:7240710 20180130 OMIM 12053713 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1605701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 | ClinVar Annotator: match by term: Spastic paraplegia 39 PMID:16199547|PMID:17576681|PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25033069|PMID:25133958|PMID:25267340|PMID:25299038|PMID:25359264|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:26995604|PMID:27866050|PMID:28492532|PMID:28559085|PMID:29221171|PMID:29248984|PMID:30097146|PMID:30555943|PMID:30564185|PMID:31048186|PMID:31135245|PMID:31712030|PMID:31780887|PMID:32579787|PMID:32586184|PMID:32623594|PMID:32758583|PMID:32870266|PMID:33141049|PMID:33210227|PMID:34103343|PMID:3963113|PMID:8053762|PMID:9536098 12053713 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 12053713 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:0111265 Boucher-Neuhauser syndrome ISO RGD:1605701 D RGD:7240710 20180130 OMIM 12053713 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:0111265 Boucher-Neuhauser syndrome ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome | ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25033069|PMID:25267340|PMID:25299038|PMID:25359264|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29248984|PMID:30555943|PMID:31135245|PMID:31780887|PMID:33141049|PMID:3963113|PMID:8053762|PMID:9321767 12053713 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:0111271 Oliver-McFarlane syndrome ISO RGD:1605701 D RGD:7240710 20180130 OMIM 12053713 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:0111271 Oliver-McFarlane syndrome ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25299038|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31135245|PMID:31780887|PMID:3963113|PMID:8053762 12053713 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:1389 polyneuropathy ISO RGD:1605701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22819951 12053713 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:13938 amenorrhea ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:28492532|PMID:32870266 12053713 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:1930 Laurence-Moon syndrome ISO RGD:1605701 D RGD:7240710 20180130 OMIM 12053713 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:1930 Laurence-Moon syndrome ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Laurence-Moon syndrome PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25299038|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31135245|PMID:3963113|PMID:8053762 12053713 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:231 motor neuron disease ISO RGD:1605701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18313024|PMID:20603202 12053713 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25033069|PMID:25133958|PMID:25299038|PMID:25359264|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:26995604|PMID:27866050|PMID:28492532|PMID:29221171|PMID:29248984|PMID:30555943|PMID:30564185|PMID:31048186|PMID:31135245|PMID:33141049|PMID:3963113|PMID:8053762 12053713 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:2710 sick building syndrome ISO RGD:1605701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23418070 12053713 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532|PMID:32579787 12053713 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:3614 Kallmann syndrome ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadism with anosmia PMID:25741868 12053713 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:574 peripheral nervous system disease ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 12053713 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:630 genetic disease ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25133958|PMID:25299038|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31135245|PMID:3963113|PMID:8053762|PMID:9536098 12053713 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:8501 fundus dystrophy ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868 12053713 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:863 nervous system disease ISO RGD:1605701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8211998 12053713 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:870 neuropathy ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 12053713 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:9001722 Dysarthria ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dysarthria PMID:25033069|PMID:25359264|PMID:25741868|PMID:28492532 12053713 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:28492532 12053713 PNPLA6 patatin like phospholipase domain containing 6 gene DOID:9007284 Precocious Puberty ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral precocious puberty 12053764 WNT5B Wnt family member 5B gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1346792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12053764 WNT5B Wnt family member 5B gene DOID:127 leiomyoma ISO RGD:1346792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15972578 12053764 WNT5B Wnt family member 5B gene DOID:127 leiomyoma ISO RGD:1346792 D RGD:9068941 20200609 RGD Uterine leiomyoma; mRNA:increased expression:leiomyoma smooth muscle cells (SMCs):vs matched myometrial SMCs PMID:15972578|REF_RGD_ID:2298808 12053764 WNT5B Wnt family member 5B gene DOID:630 genetic disease ISO RGD:1346792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053764 WNT5B Wnt family member 5B gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1346792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12053764 WNT5B Wnt family member 5B gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1551592 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:8065359|REF_RGD_ID:2298863 12053764 WNT5B Wnt family member 5B gene DOID:9005233 Experimental Mammary Neoplasms no_association ISO RGD:1551592 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:9419423|REF_RGD_ID:2298848 12053764 WNT5B Wnt family member 5B gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1346792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12053775 SALL1 spalt like transcription factor 1 gene DOID:0050887 Townes-Brocks syndrome ISO RGD:1320515 D RGD:7240710 20180130 OMIM 12053775 SALL1 spalt like transcription factor 1 gene DOID:0050887 Townes-Brocks syndrome ISO RGD:1320515 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, sensorineural, with imperforate anus and hypoplastic thumbs | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 PMID:10533063|PMID:10819639|PMID:10928856|PMID:11102974|PMID:11478532|PMID:11484202|PMID:12915476|PMID:14627694|PMID:14755477|PMID:16088922|PMID:16971658|PMID:17221874|PMID:17431915|PMID:18000979|PMID:19005989|PMID:19429598|PMID:20301618|PMID:23069192|PMID:23894113|PMID:24429398|PMID:25741868|PMID:25741886|PMID:26380986|PMID:26467025|PMID:26489027|PMID:27073431|PMID:27657687|PMID:28492532|PMID:29758562|PMID:30143558|PMID:30311386|PMID:30655312|PMID:8133838|PMID:9425907|PMID:9973281 12053775 SALL1 spalt like transcription factor 1 gene DOID:0080205 CAKUT ISO RGD:1320515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:28492532|PMID:30143558 12053775 SALL1 spalt like transcription factor 1 gene DOID:0111122 nephronophthisis 14 ISO RGD:1320515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 12053775 SALL1 spalt like transcription factor 1 gene DOID:0111766 X-linked VACTERL association ISO RGD:1320515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: VACTERL-H PMID:25741868 12053775 SALL1 spalt like transcription factor 1 gene DOID:10907 microcephaly ISO RGD:1320515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12053775 SALL1 spalt like transcription factor 1 gene DOID:14766 renal agenesis ISO RGD:1320516 D RGD:9068941 20221103 RGD PMID:11688560|REF_RGD_ID:155641230 12053775 SALL1 spalt like transcription factor 1 gene DOID:2810 middle lobe syndrome ISO RGD:1320515 D RGD:9068941 20200609 RGD Townes-Brocks syndrome. OMIM:602218 PMID:11102974|PMID:16088922|REF_RGD_ID:1599551|REF_RGD_ID:1599553 12053775 SALL1 spalt like transcription factor 1 gene DOID:5176 renal Wilms' tumor ISO RGD:1320515 D RGD:9068941 20221103 RGD human tumor in mouse model PMID:18467665|REF_RGD_ID:155631277 12053775 SALL1 spalt like transcription factor 1 gene DOID:630 genetic disease ISO RGD:1320515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12053775 SALL1 spalt like transcription factor 1 gene DOID:687 hepatoblastoma ISO RGD:1320515 D RGD:9068941 20200609 RGD embryonal subtype;protein:increased expression:liver, nucleus (human) PMID:23822878|REF_RGD_ID:11556217 12053775 SALL1 spalt like transcription factor 1 gene DOID:784 chronic kidney disease treatment ISO RGD:1320515 D RGD:9068941 20221103 RGD human cells in rat model PMID:33298161|REF_RGD_ID:155631310 12053775 SALL1 spalt like transcription factor 1 gene DOID:9004452 Townes-Brocks-Branchiootorenal-Like Syndrome ISO RGD:1320515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome PMID:10928856|PMID:12915476|PMID:14755477|PMID:16088922|PMID:23069192|PMID:28492532|PMID:9973281 12053775 SALL1 spalt like transcription factor 1 gene DOID:9004994 Embryo Loss ISO RGD:1320516 D RGD:9068941 20221103 RGD PMID:11688560|REF_RGD_ID:155641230 12053775 SALL1 spalt like transcription factor 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:1320515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20127799 12053775 SALL1 spalt like transcription factor 1 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1320515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16088922|PMID:9425907 12053775 SALL1 spalt like transcription factor 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:1320515 D RGD:9068941 20200609 RGD Townes-Brocks syndrome. OMIM:602218 PMID:11102974|PMID:16088922|REF_RGD_ID:1599551|REF_RGD_ID:1599553 12053786 MYO5C myosin VC gene DOID:2717 Bloom syndrome ISO RGD:1320640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12053786 MYO5C myosin VC gene DOID:303 substance-related disorder ISO RGD:1320640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12053786 MYO5C myosin VC gene DOID:607 paraplegia ISO RGD:1320640 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 12053786 MYO5C myosin VC gene DOID:630 genetic disease ISO RGD:1320640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053786 MYO5C myosin VC gene DOID:9256 colorectal cancer ISO RGD:1320640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12053832 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase gene DOID:0080757 Fanconi renotubular syndrome 1 ISO RGD:1349142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi renotubular syndrome 1 PMID:25741868 12053832 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase gene DOID:0080759 Fanconi renotubular syndrome 3 ISO RGD:1349142 D RGD:7240710 20190327 OMIM 12053832 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase gene DOID:0080759 Fanconi renotubular syndrome 3 ISO RGD:1349142 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi renotubular syndrome 3 PMID:1627757|PMID:24401050|PMID:25741868|PMID:35738466 12053832 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase gene DOID:0111546 Currarino syndrome ISO RGD:1349142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12053832 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase gene DOID:1062 Fanconi syndrome ISO RGD:1349142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12053832 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase gene DOID:303 substance-related disorder ISO RGD:1349142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12053832 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase gene DOID:630 genetic disease ISO RGD:1349142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053832 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase gene DOID:784 chronic kidney disease ISO RGD:1349142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 12053832 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12053846 LOC488617 olfactory receptor 6K6 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1351378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12053846 LOC488617 olfactory receptor 6K6 gene DOID:1540 parathyroid carcinoma ISO RGD:1351378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12053846 LOC488617 olfactory receptor 6K6 gene DOID:630 genetic disease ISO RGD:1351378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053846 LOC488617 olfactory receptor 6K6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12053847 IFT140 intraflagellar transport 140 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:16199547|PMID:17576681|PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:28288023|PMID:28492532|PMID:28559085|PMID:28724397|PMID:29068549|PMID:29688594|PMID:30773290|PMID:34429528|PMID:34890546|PMID:9536098 12053847 IFT140 intraflagellar transport 140 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1605413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 12053847 IFT140 intraflagellar transport 140 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1553664 D RGD:9068941 20220825 MouseDO OMIM:208500 12053847 IFT140 intraflagellar transport 140 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605413 D RGD:7240710 20180130 OMIM 12053847 IFT140 intraflagellar transport 140 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly PMID:16199547|PMID:17576681|PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:24183451|PMID:24698627|PMID:25640679|PMID:25741868|PMID:26216056|PMID:26359340|PMID:26766544|PMID:26968735|PMID:27058611|PMID:27874174|PMID:28041643|PMID:28288023|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28724397|PMID:28844315|PMID:28991257|PMID:29068549|PMID:29111861|PMID:29688594|PMID:29706353|PMID:29758562|PMID:30479745|PMID:30773290|PMID:30902645|PMID:31047384|PMID:31054281|PMID:31130284|PMID:31213501|PMID:31456290|PMID:31630094|PMID:31736247|PMID:31980526|PMID:32037395|PMID:32531858|PMID:32860008|PMID:33452237|PMID:33532864|PMID:33576794|PMID:33946315|PMID:34429528|PMID:34890546|PMID:9536098 12053847 IFT140 intraflagellar transport 140 gene DOID:10584 retinitis pigmentosa ISO RGD:1605413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:26497376|PMID:26766544|PMID:26968735|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29068549|PMID:29688594|PMID:30479745|PMID:31213501|PMID:31456290|PMID:31630094|PMID:31736247|PMID:31980526|PMID:32531858|PMID:33452237|PMID:34429528|PMID:34890546 12053847 IFT140 intraflagellar transport 140 gene DOID:10907 microcephaly ISO RGD:1605413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12053847 IFT140 intraflagellar transport 140 gene DOID:12712 nephronophthisis ISO RGD:1605413 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:17576681|PMID:22503633|PMID:25741868|PMID:28288023|PMID:28492532|PMID:28559085|PMID:28724397|PMID:28844315|PMID:29068549|PMID:29688594|PMID:29706353|PMID:30773290|PMID:9536098 12053847 IFT140 intraflagellar transport 140 gene DOID:14791 Leber congenital amaurosis ISO RGD:1605413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868 12053847 IFT140 intraflagellar transport 140 gene DOID:1826 epilepsy ISO RGD:1605413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12053847 IFT140 intraflagellar transport 140 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12053847 IFT140 intraflagellar transport 140 gene DOID:2661 myoepithelioma ISO RGD:1605413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12053847 IFT140 intraflagellar transport 140 gene DOID:630 genetic disease ISO RGD:1605413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12053847 IFT140 intraflagellar transport 140 gene DOID:8501 fundus dystrophy ISO RGD:1605413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:17576681|PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:26766544|PMID:26968735|PMID:28492532|PMID:29688594|PMID:30479745|PMID:31213501|PMID:31736247|PMID:32037395|PMID:32531858|PMID:33452237|PMID:34890546|PMID:9536098 12053847 IFT140 intraflagellar transport 140 gene DOID:9009101 Retinitis Pigmentosa 80 ISO RGD:1605413 D RGD:7240710 20190315 OMIM 12053847 IFT140 intraflagellar transport 140 gene DOID:9009101 Retinitis Pigmentosa 80 ISO RGD:1605413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene | ClinVar Annotator: match by term: Retinitis pigmentosa 80 PMID:16199547|PMID:17576681|PMID:22503633|PMID:23418020|PMID:24009529|PMID:24698627|PMID:25741868|PMID:26216056|PMID:26359340|PMID:26766544|PMID:26968735|PMID:28288023|PMID:28492532|PMID:28559085|PMID:28724397|PMID:29068549|PMID:29111861|PMID:29688594|PMID:30479745|PMID:30773290|PMID:31054281|PMID:31130284|PMID:31630094|PMID:31736247|PMID:32037395|PMID:32531858|PMID:32860008|PMID:34429528|PMID:34890546|PMID:9536098 12053869 SMAD7 SMAD family member 7 gene DOID:0060224 atrial fibrillation ISO RGD:1344957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12053869 SMAD7 SMAD family member 7 gene DOID:0080412 familial adenomatous polyposis 4 ISO RGD:1344957 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 4 PMID:25741868 12053869 SMAD7 SMAD family member 7 gene DOID:1059 intellectual disability ISO RGD:1344957 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12053869 SMAD7 SMAD family member 7 gene DOID:10952 nephritis ISO RGD:69314 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:11170839|REF_RGD_ID:2315074 12053869 SMAD7 SMAD family member 7 gene DOID:1380 endometrial cancer disease_progression ISO RGD:1344957 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:15661223|REF_RGD_ID:2299963 12053869 SMAD7 SMAD family member 7 gene DOID:1793 pancreatic cancer ISO RGD:1344957 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (human) PMID:10498890|REF_RGD_ID:14394510 12053869 SMAD7 SMAD family member 7 gene DOID:3770 pulmonary fibrosis ISO RGD:1344957 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23590892 12053869 SMAD7 SMAD family member 7 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:1344957 D RGD:9068941 20200609 RGD human cell and construct in a mouse model PMID:10498890|REF_RGD_ID:14394510 12053869 SMAD7 SMAD family member 7 gene DOID:5082 liver cirrhosis ISO RGD:1344957 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma; mRNA:increased expression:liver (human) PMID:25602745|REF_RGD_ID:14401589 12053869 SMAD7 SMAD family member 7 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12053869 SMAD7 SMAD family member 7 gene DOID:630 genetic disease ISO RGD:1344957 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12053869 SMAD7 SMAD family member 7 gene DOID:6432 pulmonary hypertension ISO RGD:69314 D RGD:9068941 20200609 RGD PMID:17347486|REF_RGD_ID:1643222 12053869 SMAD7 SMAD family member 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1344957 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:25602745|REF_RGD_ID:14401589 12053869 SMAD7 SMAD family member 7 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:69314 D RGD:9068941 20200609 RGD mRNA:increased expression:hypoglossal nucleus PMID:17166487|REF_RGD_ID:1643227 12053869 SMAD7 SMAD family member 7 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1344957 D RGD:9068941 20200609 RGD DNA:polymorphism:cds PMID:11078792|REF_RGD_ID:2300008 12053869 SMAD7 SMAD family member 7 gene DOID:9004018 Paraquat Lung ISO RGD:1344957 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23590892 12053869 SMAD7 SMAD family member 7 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1344957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17934461 12053869 SMAD7 SMAD family member 7 gene DOID:9256 colorectal cancer ISO RGD:1344957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 3 PMID:17934461|PMID:18372901|PMID:18372905 12053869 SMAD7 SMAD family member 7 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1344957 D RGD:7240710 20200226 OMIM 12053879 CBLN3 cerebellin 3 precursor gene DOID:0060439 lysinuric protein intolerance ISO RGD:1343800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12053879 CBLN3 cerebellin 3 precursor gene DOID:630 genetic disease ISO RGD:1343800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053879 CBLN3 cerebellin 3 precursor gene DOID:9000265 Specific Granule Deficiency ISO RGD:1343800 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12053879 CBLN3 cerebellin 3 precursor gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343800 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12053886 MICU3 mitochondrial calcium uptake family member 3 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1344142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 12053886 MICU3 mitochondrial calcium uptake family member 3 gene DOID:630 genetic disease ISO RGD:1344142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053906 TRMT1L tRNA methyltransferase 1 like gene DOID:11372 megacolon ISO RGD:1317348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12053906 TRMT1L tRNA methyltransferase 1 like gene DOID:1540 parathyroid carcinoma ISO RGD:1317348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12053906 TRMT1L tRNA methyltransferase 1 like gene DOID:630 genetic disease ISO RGD:1317348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053906 TRMT1L tRNA methyltransferase 1 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12053928 LGR5 leucine rich repeat containing G protein-coupled receptor 5 gene DOID:0060604 ankyloglossia ISO RGD:1550798 D RGD:9068941 20220825 MouseDO OMIM:106280 12053928 LGR5 leucine rich repeat containing G protein-coupled receptor 5 gene DOID:630 genetic disease ISO RGD:1605118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053928 LGR5 leucine rich repeat containing G protein-coupled receptor 5 gene DOID:9002928 Colonic Neoplasms ISO RGD:1605118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21188121 12053928 LGR5 leucine rich repeat containing G protein-coupled receptor 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1605118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25280562 12053950 LOC611536 C-type lectin domain family 4 member D gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1347298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12053950 LOC611536 C-type lectin domain family 4 member D gene DOID:0060758 immunodeficiency with hyper-IgM type 2 ISO RGD:1347298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 PMID:16964591|PMID:28492532 12053950 LOC611536 C-type lectin domain family 4 member D gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1347298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12053950 LOC611536 C-type lectin domain family 4 member D gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1347298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12053950 LOC611536 C-type lectin domain family 4 member D gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1347298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12053950 LOC611536 C-type lectin domain family 4 member D gene DOID:0111621 Temtamy syndrome ISO RGD:1347298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12053950 LOC611536 C-type lectin domain family 4 member D gene DOID:630 genetic disease ISO RGD:1347298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053950 LOC611536 C-type lectin domain family 4 member D gene DOID:850 lung disease ISO RGD:1347298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21602193 12053950 LOC611536 C-type lectin domain family 4 member D gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1347298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12053969 SAXO4 stabilizer of axonemal microtubules 4 gene DOID:0050773 paraganglioma ISO RGD:735928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:22241717|PMID:26096992|PMID:28492532 12053969 SAXO4 stabilizer of axonemal microtubules 4 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12053969 SAXO4 stabilizer of axonemal microtubules 4 gene DOID:1059 intellectual disability ISO RGD:735928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12053969 SAXO4 stabilizer of axonemal microtubules 4 gene DOID:630 genetic disease ISO RGD:735928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053969 SAXO4 stabilizer of axonemal microtubules 4 gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:735928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:22241717|PMID:26096992|PMID:28492532 12053989 ZNF404 zinc finger protein 404 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1346088 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12053989 ZNF404 zinc finger protein 404 gene DOID:5419 schizophrenia ISO RGD:1346088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12053989 ZNF404 zinc finger protein 404 gene DOID:630 genetic disease ISO RGD:1346088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12053989 ZNF404 zinc finger protein 404 gene DOID:9008939 Breast Neoplasms ISO RGD:1346088 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12054003 CYSTM1 cysteine rich transmembrane module containing 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1603605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12054003 CYSTM1 cysteine rich transmembrane module containing 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603605 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12054003 CYSTM1 cysteine rich transmembrane module containing 1 gene DOID:630 genetic disease ISO RGD:1603605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054003 CYSTM1 cysteine rich transmembrane module containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12054003 CYSTM1 cysteine rich transmembrane module containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12054003 CYSTM1 cysteine rich transmembrane module containing 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603605 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12054028 FANCI FA complementation group I gene DOID:0050671 female breast cancer susceptibility ISO RGD:1605380 D RGD:9068941 20220609 RGD DNA:missense mutation:cds: (human) PMID:30303537|REF_RGD_ID:152995259 12054028 FANCI FA complementation group I gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1605380 D RGD:9068941 20200609 RGD PMID:17409780|REF_RGD_ID:11049143 12054028 FANCI FA complementation group I gene DOID:0080119 mitochondrial DNA depletion syndrome 1 ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 12054028 FANCI FA complementation group I gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:1605380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:21880868|PMID:22189570|PMID:23524600|PMID:23783014|PMID:24033266|PMID:24086434|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532|PMID:30634555 12054028 FANCI FA complementation group I gene DOID:0080123 mitochondrial DNA depletion syndrome 4B ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4B, MNGIE type | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4b PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 12054028 FANCI FA complementation group I gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 12054028 FANCI FA complementation group I gene DOID:0111091 Fanconi anemia complementation group I ISO RGD:1605380 D RGD:7240710 20180130 OMIM 12054028 FANCI FA complementation group I gene DOID:0111091 Fanconi anemia complementation group I ISO RGD:1605380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group I PMID:16199547|PMID:17412408|PMID:17452773|PMID:17460694|PMID:17576681|PMID:17924555|PMID:18414213|PMID:18931676|PMID:20971953|PMID:21324748|PMID:22720145|PMID:22778927|PMID:23093618|PMID:23524600|PMID:23613520|PMID:24989076|PMID:25741868|PMID:26296701|PMID:26467025|PMID:26590883|PMID:27987238|PMID:28492532|PMID:28678401|PMID:28875981|PMID:28878254|PMID:29439820|PMID:30076350|PMID:30303537|PMID:30773290|PMID:32546565|PMID:33558524|PMID:34861889|PMID:9536098 12054028 FANCI FA complementation group I gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1605380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:25741868|PMID:28492532 12054028 FANCI FA complementation group I gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 12054028 FANCI FA complementation group I gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1605380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12054028 FANCI FA complementation group I gene DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 12054028 FANCI FA complementation group I gene DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 12054028 FANCI FA complementation group I gene DOID:10534 stomach cancer ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:25741868|PMID:28875981 12054028 FANCI FA complementation group I gene DOID:10907 microcephaly ISO RGD:1605380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12054028 FANCI FA complementation group I gene DOID:13636 Fanconi anemia ISO RGD:1605380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:15477547|PMID:15689359|PMID:16177225|PMID:16199547|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452773|PMID:17460694|PMID:17576681|PMID:17924555|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:19737859|PMID:19763152|PMID:20307669|PMID:20691285|PMID:20971953|PMID:21038416|PMID:21228398|PMID:21324748|PMID:22406018|PMID:22720145|PMID:23093618|PMID:23613520|PMID:23783014|PMID:24033266|PMID:24989076|PMID:25462018|PMID:25741868|PMID:25877891|PMID:25927356|PMID:26104464|PMID:26296701|PMID:26467025|PMID:26590883|PMID:28492532|PMID:28678401|PMID:28878254|PMID:29439820|PMID:29891941|PMID:30076350|PMID:30303537|PMID:30333958|PMID:30773290|PMID:31470354|PMID:32054657|PMID:32235514|PMID:32546565|PMID:33558524|PMID:34585473|PMID:34861889|PMID:9536098 12054028 FANCI FA complementation group I gene DOID:1612 breast cancer ISO RGD:1605380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532|PMID:33558524 12054028 FANCI FA complementation group I gene DOID:1826 epilepsy ISO RGD:1605380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizures PMID:15477547|PMID:16177225|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28492532 12054028 FANCI FA complementation group I gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:21880868|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28492532 12054028 FANCI FA complementation group I gene DOID:2717 Bloom syndrome ISO RGD:1605380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12054028 FANCI FA complementation group I gene DOID:630 genetic disease ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28492532 12054028 FANCI FA complementation group I gene DOID:684 hepatocellular carcinoma ISO RGD:1605380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12054028 FANCI FA complementation group I gene DOID:700 mitochondrial metabolism disease ISO RGD:1605380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: mitochondrial disorder PMID:15477547|PMID:16177225|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28492532 12054028 FANCI FA complementation group I gene DOID:700 mitochondrial metabolism disease ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: mitochondrial disorder PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28492532 12054028 FANCI FA complementation group I gene DOID:9001263 Mitochondrial DNA Depletion Syndrome, MNGIE Type ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 12054028 FANCI FA complementation group I gene DOID:9003108 CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 12054028 FANCI FA complementation group I gene DOID:9008631 progressive myoclonus epilepsy 5 ISO RGD:1605380 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 12054028 FANCI FA complementation group I gene DOID:9256 colorectal cancer ISO RGD:1605380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer PMID:25741868|PMID:28492532 12054076 CD1D CD1d molecule gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:27069116|REF_RGD_ID:11534789 12054076 CD1D CD1d molecule gene DOID:10113 trypanosomiasis exacerbates ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:15731095|REF_RGD_ID:127345115 12054076 CD1D CD1d molecule gene DOID:10534 stomach cancer disease_progression ISO RGD:1353762 D RGD:9068941 20210709 RGD mRNA:splice variant:pyloric antrum (human)) PMID:26119195|REF_RGD_ID:11074500 12054076 CD1D CD1d molecule gene DOID:12206 dengue hemorrhagic fever disease_progression ISO RGD:1353762 D RGD:9068941 20210709 RGD protein:increased expression:cd14-positive monocyte (human) PMID:24945350|REF_RGD_ID:127345113 12054076 CD1D CD1d molecule gene DOID:12365 malaria ameliorates ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:12938235|REF_RGD_ID:127345117 12054076 CD1D CD1d molecule gene DOID:12365 malaria exacerbates ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:24703850|REF_RGD_ID:127345121 12054076 CD1D CD1d molecule gene DOID:1273 respiratory syncytial virus infectious disease ameliorates ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:32463330|REF_RGD_ID:127345107 12054076 CD1D CD1d molecule gene DOID:1394 urinary schistosomiasis ISO RGD:1353762 D RGD:9068941 20210709 RGD protein:increased expression:B cell (human) PMID:22347409|REF_RGD_ID:127345101 12054076 CD1D CD1d molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1353762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12054076 CD1D CD1d molecule gene DOID:2237 hepatitis ameliorates ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:24058536|REF_RGD_ID:127345120 12054076 CD1D CD1d molecule gene DOID:2841 asthma susceptibility ISO RGD:1552895 D RGD:9068941 20210709 RGD associated with fasciolopsiasis PMID:20304473|REF_RGD_ID:4140417 12054076 CD1D CD1d molecule gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1353762 D RGD:9068941 20210709 RGD DNA:SNPS, haplotype:intron, enhancer: (rs859009,rs859010, rs973742) (human) PMID:30972222|REF_RGD_ID:127345096 12054076 CD1D CD1d molecule gene DOID:3388 periodontal disease ameliorates ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:23586756|REF_RGD_ID:127345118 12054076 CD1D CD1d molecule gene DOID:3944 Arenaviridae infectious disease ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:32153566|REF_RGD_ID:127345122 12054076 CD1D CD1d molecule gene DOID:630 genetic disease ISO RGD:1353762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054076 CD1D CD1d molecule gene DOID:820 myocarditis susceptibility ISO RGD:1552895 D RGD:9068941 20210709 RGD associated with Coxsackievirus Infections PMID:20121405|REF_RGD_ID:127345095 12054076 CD1D CD1d molecule gene DOID:820 myocarditis treatment ISO RGD:1552895 D RGD:9068941 20210709 RGD associated with Coxsackievirus Infections PMID:21050191|REF_RGD_ID:11340571 12054076 CD1D CD1d molecule gene DOID:8566 herpes simplex exacerbates ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:18614643|REF_RGD_ID:127345112 12054076 CD1D CD1d molecule gene DOID:8857 lupus erythematosus ameliorates ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:14561706|REF_RGD_ID:127345108 12054076 CD1D CD1d molecule gene DOID:9000220 Coxsackievirus Infections ISO RGD:1552895 D RGD:9068941 20210709 RGD protein:increased expression:spleen, mononuclear cell (mouse) PMID:16817758|REF_RGD_ID:127345109 12054076 CD1D CD1d molecule gene DOID:9000469 Viral Myocarditis ameliorates ISO RGD:1552895 D RGD:9068941 20210709 RGD associated with Coxsackievirus Infections PMID:12626572|REF_RGD_ID:127345102 12054076 CD1D CD1d molecule gene DOID:9002433 Schistosomiasis Japonica treatment ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:33283278|REF_RGD_ID:127345110 12054076 CD1D CD1d molecule gene DOID:9002834 Herpesviridae Infections exacerbates ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:19414797|REF_RGD_ID:127345094 12054076 CD1D CD1d molecule gene DOID:9003470 Picornaviridae Infections ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:16809320|REF_RGD_ID:127345105 12054076 CD1D CD1d molecule gene DOID:9003470 Picornaviridae Infections treatment ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:19949077|REF_RGD_ID:127345106 12054076 CD1D CD1d molecule gene DOID:9004484 Sepsis treatment ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:14572776|REF_RGD_ID:127345103 12054076 CD1D CD1d molecule gene DOID:9005295 Viral Eye Infections exacerbates ISO RGD:1552895 D RGD:9068941 20210709 RGD associated with Herpesviridae Infections PMID:30185591|REF_RGD_ID:127345098 12054076 CD1D CD1d molecule gene DOID:9005757 Metapneumovirus infections ISO RGD:1552895 D RGD:9068941 20210709 RGD protein:decreased expression:alveolar macrophage, monocyte (mouse) PMID:32463330|REF_RGD_ID:127345107 12054076 CD1D CD1d molecule gene DOID:9006262 Cytomegalovirus Infections exacerbates ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:17379092|REF_RGD_ID:127345104 12054076 CD1D CD1d molecule gene DOID:9006741 Acute Hepatitis ameliorates ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:11970881|REF_RGD_ID:127345111 12054076 CD1D CD1d molecule gene DOID:9008090 Chlamydiaceae Infections ISO RGD:1552895 D RGD:9068941 20210709 RGD PMID:23999314|REF_RGD_ID:127345116 12054076 CD1D CD1d molecule gene DOID:9008114 Helicobacter Infections ISO RGD:1353762 D RGD:9068941 20210709 RGD associated with dyspepsia;mRNA:splice variant:pyloric antrum (human) PMID:26119195|REF_RGD_ID:11074500 12054076 CD1D CD1d molecule gene DOID:9008163 Chronic Hepatitis B ISO RGD:1353762 D RGD:9068941 20210709 RGD associated with hepatocellular carcinoma;mRNA:increased expression:liver (human) PMID:29643189|REF_RGD_ID:127345114 12054076 CD1D CD1d molecule gene DOID:9008452 Candidemia ameliorates ISO RGD:1552895 D RGD:9068941 20210709 RGD associated with endotoxemia PMID:32154791|REF_RGD_ID:127345119 12054076 CD1D CD1d molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12054085 MIR365-1 microRNA mir-365-1 gene DOID:0110848 xeroderma pigmentosum group F ISO RGD:2290203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group F PMID:28492532 12054085 MIR365-1 microRNA mir-365-1 gene DOID:2043 hepatitis B ISO RGD:2290203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12054088 MIR106B microRNA 106b gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346496 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver (rat) PMID:29554950|REF_RGD_ID:15042854 12054088 MIR106B microRNA mir-106b gene DOID:12849 autistic disorder ISO RGD:1346496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20374639 12054088 MIR106B microRNA mir-106b gene DOID:3347 osteosarcoma ISO RGD:1346496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22510560 12054088 MIR106B microRNA mir-106b gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12054088 MIR106B microRNA mir-106b gene DOID:6000 congestive heart failure ISO RGD:1346496 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12054088 MIR106B microRNA mir-106b gene DOID:684 hepatocellular carcinoma ISO RGD:1346496 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver (human) PMID:28958640|REF_RGD_ID:15042874 12054088 MIR106B microRNA mir-106b gene DOID:684 hepatocellular carcinoma ISO RGD:1346496 D RGD:9068941 20200609 RGD miRNA:increased expression:plasma (human) PMID:25894380|REF_RGD_ID:15042875 12054088 MIR106B microRNA mir-106b gene DOID:684 hepatocellular carcinoma ISO RGD:1607597 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver (human) PMID:28958640|REF_RGD_ID:15042874 12054088 MIR106B microRNA mir-106b gene DOID:684 hepatocellular carcinoma ISO RGD:1607597 D RGD:9068941 20200609 RGD miRNA:increased expression:plasma (human) PMID:25894380|REF_RGD_ID:15042875 12054088 MIR106B microRNA mir-106b gene DOID:684 hepatocellular carcinoma ISO RGD:2325388 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver (human) PMID:28958640|REF_RGD_ID:15042874 12054088 MIR106B microRNA mir-106b gene DOID:684 hepatocellular carcinoma ISO RGD:2325388 D RGD:9068941 20200609 RGD miRNA:increased expression:plasma (human) PMID:25894380|REF_RGD_ID:15042875 12054088 MIR106B microRNA mir-106b gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346496 D RGD:9068941 20200609 RGD miRNA:increased expression:serum (human) PMID:28611524|REF_RGD_ID:15042876 12054088 MIR106B microRNA mir-106b gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1607597 D RGD:9068941 20200609 RGD miRNA:increased expression:serum (human) PMID:28611524|REF_RGD_ID:15042876 12054088 MIR106B microRNA mir-106b gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:2325388 D RGD:9068941 20200609 RGD miRNA:increased expression:serum (human) PMID:28611524|REF_RGD_ID:15042876 12054088 MIR106B microRNA mir-106b gene DOID:684 hepatocellular carcinoma severity ISO RGD:1346496 D RGD:9068941 20200609 RGD miRNA:increased expression:liver (human) PMID:31406464|REF_RGD_ID:15042877 12054088 MIR106B microRNA mir-106b gene DOID:684 hepatocellular carcinoma severity ISO RGD:1607597 D RGD:9068941 20200609 RGD miRNA:increased expression:liver (human) PMID:31406464|REF_RGD_ID:15042877 12054088 MIR106B microRNA mir-106b gene DOID:684 hepatocellular carcinoma severity ISO RGD:2325388 D RGD:9068941 20200609 RGD miRNA:increased expression:liver (human) PMID:31406464|REF_RGD_ID:15042877 12054088 MIR106B microRNA mir-106b gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1346496 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma;miRNA:increased expression:liver (human) PMID:27298561|REF_RGD_ID:15042853 12054088 MIR106B microRNA mir-106b gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1607597 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma;miRNA:increased expression:liver (human) PMID:27298561|REF_RGD_ID:15042853 12054088 MIR106B microRNA mir-106b gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:2325388 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma;miRNA:increased expression:liver (human) PMID:27298561|REF_RGD_ID:15042853 12054088 MIR106B microRNA mir-106b gene DOID:9008443 Colorectal Neoplasms ISO RGD:1346496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22510560 12054088 MIR106B microRNA mir-106b gene DOID:9256 colorectal cancer ISO RGD:1346496 D RGD:9068941 20220805 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12054088 Mir106b microRNA 106b gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1607597 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:29554950|REF_RGD_ID:15042854 12054088 Mir106b microRNA 106b gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2325388 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:29554950|REF_RGD_ID:15042854 12054157 ARHGAP9 Rho GTPase activating protein 9 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1313314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2U PMID:17576681|PMID:24482476|PMID:28492532|PMID:9536098 12054157 ARHGAP9 Rho GTPase activating protein 9 gene DOID:11840 coronary artery vasospasm ISO RGD:1313314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery spasm 3, susceptibility to PMID:19911011 12054157 ARHGAP9 Rho GTPase activating protein 9 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1313314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28832565 12054157 ARHGAP9 Rho GTPase activating protein 9 gene DOID:630 genetic disease ISO RGD:1313314 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12054157 ARHGAP9 Rho GTPase activating protein 9 gene DOID:6846 familial melanoma ISO RGD:1313314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 12054157 ARHGAP9 Rho GTPase activating protein 9 gene DOID:9000026 Spastic Paraplegia 70, Autosomal Recessive ISO RGD:1313314 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 70, autosomal recessive PMID:24482476|PMID:28492532 12054157 ARHGAP9 Rho GTPase activating protein 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12054157 ARHGAP9 Rho GTPase activating protein 9 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1313314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease | ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND PMID:17576681|PMID:24482476|PMID:28492532|PMID:9536098 12054180 SHARPIN SHANK associated RH domain interactor gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1603608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12054180 SHARPIN SHANK associated RH domain interactor gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1603608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12054180 SHARPIN SHANK associated RH domain interactor gene DOID:2723 dermatitis ISO RGD:1603608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19650867 12054180 SHARPIN SHANK associated RH domain interactor gene DOID:3310 atopic dermatitis ISO RGD:1549996 D RGD:9068941 20220825 MouseDO OMIM:603165 12054180 SHARPIN SHANK associated RH domain interactor gene DOID:4621 holoprosencephaly ISO RGD:1603608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12054180 SHARPIN SHANK associated RH domain interactor gene DOID:630 genetic disease ISO RGD:1603608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054180 SHARPIN SHANK associated RH domain interactor gene DOID:9001371 Eosinophilia ISO RGD:1603608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19650867 12054197 LNX1 ligand of numb-protein X 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1317771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:26614431 12054197 LNX1 ligand of numb-protein X 1 gene DOID:630 genetic disease ISO RGD:1317771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054224 HYAL4 hyaluronidase 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12054224 HYAL4 hyaluronidase 4 gene DOID:630 genetic disease ISO RGD:1347409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054230 CD36 CD36 molecule gene DOID:0050700 cardiomyopathy treatment ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:17363697|REF_RGD_ID:11040927 12054230 CD36 CD36 molecule gene DOID:0050827 rheumatic heart disease ISO RGD:619554 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood, mononuclear cell PMID:16741676|REF_RGD_ID:6893529 12054230 CD36 CD36 molecule gene DOID:0060180 colitis ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:19117124|REF_RGD_ID:6893503 12054230 CD36 CD36 molecule gene DOID:0060224 atrial fibrillation disease_progression ISO RGD:619554 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:blood, leukocyte PMID:21195211|REF_RGD_ID:6893544 12054230 CD36 CD36 molecule gene DOID:0070004 myeloid neoplasm ISO RGD:619554 D RGD:9068941 20200609 RGD protein:increased expression:platelet, plasma membrane PMID:12479587|REF_RGD_ID:11040908 12054230 CD36 CD36 molecule gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:24280415|REF_RGD_ID:11041117 12054230 CD36 CD36 molecule gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:619555 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:21216282|REF_RGD_ID:6893543 12054230 CD36 CD36 molecule gene DOID:0111046 platelet-type bleeding disorder 10 ISO RGD:619554 D RGD:7240710 20230517 OMIM 12054230 CD36 CD36 molecule gene DOID:0111046 platelet-type bleeding disorder 10 ISO RGD:619554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 10 PMID:10890433|PMID:10946357|PMID:11019968|PMID:11352982|PMID:11499670|PMID:11718687|PMID:11950861|PMID:12031598|PMID:15282206|PMID:15671915|PMID:16493488|PMID:18305138|PMID:19403559|PMID:20722468|PMID:22993001|PMID:23649248|PMID:23856131|PMID:23966019|PMID:24033266|PMID:24917573|PMID:24960640|PMID:25330908|PMID:25741868|PMID:25798958|PMID:25995486|PMID:26528880|PMID:28137300|PMID:28492532|PMID:33116287|PMID:7533783|PMID:7686693|PMID:8696942 12054230 CD36 CD36 molecule gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:619554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:16911630|PMID:16952981|PMID:25741868|PMID:32347024|PMID:32796572 12054230 CD36 CD36 molecule gene DOID:10223 dermatomyositis ISO RGD:619554 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:17572512|REF_RGD_ID:6893508 12054230 CD36 CD36 molecule gene DOID:10325 silicosis treatment ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:24053919|REF_RGD_ID:11041147 12054230 CD36 CD36 molecule gene DOID:10603 glucose intolerance ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14640889 12054230 CD36 CD36 molecule gene DOID:10608 celiac disease ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 12054230 CD36 CD36 molecule gene DOID:10652 Alzheimer's disease ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:16563568|REF_RGD_ID:6893531 12054230 CD36 CD36 molecule gene DOID:10763 hypertension ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:18587397|REF_RGD_ID:2300254 12054230 CD36 CD36 molecule gene DOID:10763 hypertension ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18587397 12054230 CD36 CD36 molecule gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:7529543|REF_RGD_ID:11041104 12054230 CD36 CD36 molecule gene DOID:10923 sickle cell anemia ISO RGD:619554 D RGD:9068941 20200609 RGD protein:increased expression:erythrocyte PMID:18322255|REF_RGD_ID:6893506 12054230 CD36 CD36 molecule gene DOID:10923 sickle cell anemia treatment ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:20015873|REF_RGD_ID:11041114 12054230 CD36 CD36 molecule gene DOID:11382 corneal neovascularization ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:17003426|REF_RGD_ID:6893528 12054230 CD36 CD36 molecule gene DOID:11612 polycystic ovary syndrome ISO RGD:2301 D RGD:9068941 20200609 RGD protein:decreased expression:cardiac muscle cell PMID:25702158|REF_RGD_ID:11041149 12054230 CD36 CD36 molecule gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2301 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:19189074|REF_RGD_ID:2307222 12054230 CD36 CD36 molecule gene DOID:12132 granulomatosis with polyangiitis ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:21412229|REF_RGD_ID:6893495 12054230 CD36 CD36 molecule gene DOID:12365 malaria ISO RGD:619554 D RGD:7240710 20230517 OMIM 12054230 CD36 CD36 molecule gene DOID:12365 malaria ISO RGD:619554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malaria, cerebral, susceptibility to | ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10890433|PMID:18305138|PMID:19403559|PMID:25741868 12054230 CD36 CD36 molecule gene DOID:12554 hemolytic-uremic syndrome ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:16197457|REF_RGD_ID:6893534 12054230 CD36 CD36 molecule gene DOID:12930 dilated cardiomyopathy ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10981864 12054230 CD36 CD36 molecule gene DOID:14069 cerebral malaria ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:17367535|REF_RGD_ID:6893527 12054230 CD36 CD36 molecule gene DOID:1826 epilepsy ISO RGD:619554 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 12054230 CD36 CD36 molecule gene DOID:1936 atherosclerosis ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:19264766|PMID:20037584|REF_RGD_ID:6893502|REF_RGD_ID:6893559 12054230 CD36 CD36 molecule gene DOID:1936 atherosclerosis treatment ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:26003171|REF_RGD_ID:11041151 12054230 CD36 CD36 molecule gene DOID:2218 blood platelet disease ISO RGD:619554 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Platelet disorder PMID:10946357|PMID:11019968|PMID:11718687|PMID:11950861|PMID:15282206|PMID:24033266|PMID:24917573|PMID:24960640|PMID:25741868|PMID:25798958|PMID:7533783|PMID:7686693 12054230 CD36 CD36 molecule gene DOID:2224 essential thrombocythemia ISO RGD:619554 D RGD:9068941 20200609 RGD protein:increased expression:platelet, cell surface PMID:8555064|REF_RGD_ID:11041099 12054230 CD36 CD36 molecule gene DOID:2316 brain ischemia ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:20360550|REF_RGD_ID:6893498 12054230 CD36 CD36 molecule gene DOID:2349 arteriosclerosis severity ISO RGD:619554 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18723424|REF_RGD_ID:2307207 12054230 CD36 CD36 molecule gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:20855355|REF_RGD_ID:6893496 12054230 CD36 CD36 molecule gene DOID:2527 nephrosis ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:19147991|REF_RGD_ID:2307223 12054230 CD36 CD36 molecule gene DOID:289 endometriosis ISO RGD:619554 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:macrophage PMID:19606481|REF_RGD_ID:6893501 12054230 CD36 CD36 molecule gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:619554 D RGD:9068941 20210226 RGD DNA:SNPs: :rs1194182, rs10499859(human) PMID:28693442|REF_RGD_ID:41412192 12054230 CD36 CD36 molecule gene DOID:3042 allergic contact dermatitis ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 12054230 CD36 CD36 molecule gene DOID:3429 inclusion body myositis ISO RGD:619554 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:17572512|REF_RGD_ID:6893508 12054230 CD36 CD36 molecule gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:25216018|REF_RGD_ID:11041113 12054230 CD36 CD36 molecule gene DOID:3526 cerebral infarction ISO RGD:619555 D RGD:9068941 20200609 RGD associated with Hyperlipidemias PMID:22718544|REF_RGD_ID:6893487 12054230 CD36 CD36 molecule gene DOID:3770 pulmonary fibrosis ISO RGD:2301 D RGD:9068941 20200609 RGD associated with Silicosis PMID:19439069|REF_RGD_ID:2307220 12054230 CD36 CD36 molecule gene DOID:3770 pulmonary fibrosis severity ISO RGD:619555 D RGD:9068941 20200609 RGD associated with Silicosis PMID:20056742|REF_RGD_ID:6893557 12054230 CD36 CD36 molecule gene DOID:4448 macular degeneration ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:18288886|REF_RGD_ID:2307226 12054230 CD36 CD36 molecule gene DOID:4448 macular degeneration ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:18288886|REF_RGD_ID:2307226 12054230 CD36 CD36 molecule gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:619554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12054230 CD36 CD36 molecule gene DOID:5082 liver cirrhosis ISO RGD:619554 D RGD:9068941 20200609 RGD associated with Hypertension, Portal PMID:22648712|REF_RGD_ID:6893541 12054230 CD36 CD36 molecule gene DOID:5844 myocardial infarction severity ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:22128087|REF_RGD_ID:6893560 12054230 CD36 CD36 molecule gene DOID:612 primary immunodeficiency disease ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15690042 12054230 CD36 CD36 molecule gene DOID:630 genetic disease ISO RGD:619554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054230 CD36 CD36 molecule gene DOID:8398 osteoarthritis susceptibility ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:15334463|REF_RGD_ID:1625347 12054230 CD36 CD36 molecule gene DOID:8552 chronic myeloid leukemia ISO RGD:619554 D RGD:9068941 20200609 RGD protein:increased expression:platelet, cell surface PMID:8555064|REF_RGD_ID:11041099 12054230 CD36 CD36 molecule gene DOID:8997 polycythemia vera ISO RGD:619554 D RGD:9068941 20200609 RGD protein:increased expression:platelet, cell surface PMID:8555064|REF_RGD_ID:11041099 12054230 CD36 CD36 molecule gene DOID:9000064 Cardiac Arrhythmias severity ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:22128087|REF_RGD_ID:6893560 12054230 CD36 CD36 molecule gene DOID:9000528 Coronary Disease ISO RGD:619554 D RGD:7240710 20230517 OMIM 12054230 CD36 CD36 molecule gene DOID:9000656 Penetrating Wounds ISO RGD:619555 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;mRNA:decreased expression:macrophage PMID:21803601|REF_RGD_ID:6893492 12054230 CD36 CD36 molecule gene DOID:9000808 Hypercholesterolemia ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:10946357|REF_RGD_ID:11040931 12054230 CD36 CD36 molecule gene DOID:9001415 Mycobacterium Infections ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:20950462|REF_RGD_ID:6893545 12054230 CD36 CD36 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12054230 CD36 CD36 molecule gene DOID:9002165 Diabetic Nephropathies ISO RGD:2301 D RGD:9068941 20200609 RGD protein:increased expression:renal proximal tubule, endothelial cell PMID:15737001|REF_RGD_ID:2307215 12054230 CD36 CD36 molecule gene DOID:9002331 Knee Osteoarthritis ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:19342682|REF_RGD_ID:6893565 12054230 CD36 CD36 molecule gene DOID:9002331 Knee Osteoarthritis disease_progression ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:21765106|REF_RGD_ID:6893494 12054230 CD36 CD36 molecule gene DOID:9002554 Tachycardia ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:26579575|REF_RGD_ID:11041119 12054230 CD36 CD36 molecule gene DOID:9002676 Cerebral Hemorrhage ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:19064796|REF_RGD_ID:6893504 12054230 CD36 CD36 molecule gene DOID:9003936 Cardiomegaly treatment ISO RGD:619555 D RGD:9068941 20200609 RGD associated with Obesity PMID:26036798|REF_RGD_ID:11040928 12054230 CD36 CD36 molecule gene DOID:9004009 Reperfusion Injury ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 12054230 CD36 CD36 molecule gene DOID:9004484 Sepsis ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:22327076|REF_RGD_ID:6893490 12054230 CD36 CD36 molecule gene DOID:9004610 Acute Lung Injury ISO RGD:619555 D RGD:9068941 20200609 RGD associated with Malaria PMID:18483551|REF_RGD_ID:6893505 12054230 CD36 CD36 molecule gene DOID:9004657 Weight Gain ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12054230 CD36 CD36 molecule gene DOID:9005176 Retroperitoneal Fibrosis ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:16014033|REF_RGD_ID:6893538 12054230 CD36 CD36 molecule gene DOID:9005372 Inflammation ISO RGD:619555 D RGD:9068941 20200609 RGD associated with Fatty Liver PMID:22470565|REF_RGD_ID:6893488 12054230 CD36 CD36 molecule gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2301 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple organs PMID:16838191|REF_RGD_ID:2307214 12054230 CD36 CD36 molecule gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:23691525|REF_RGD_ID:11041145 12054230 CD36 CD36 molecule gene DOID:9006013 Hematoma ISO RGD:619554 D RGD:9068941 20200609 RGD associated with Cerebral Hemorrhage PMID:24808360|REF_RGD_ID:11040930 12054230 CD36 CD36 molecule gene DOID:9006013 Hematoma treatment ISO RGD:619555 D RGD:9068941 20200609 RGD associated with Cerebral Hemorrhage PMID:24808360|REF_RGD_ID:11040930 12054230 CD36 CD36 molecule gene DOID:9006646 Metabolic Syndrome ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:9916795|REF_RGD_ID:619666 12054230 CD36 CD36 molecule gene DOID:9006646 Metabolic Syndrome ISO RGD:619554 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18305138|REF_RGD_ID:2307208 12054230 CD36 CD36 molecule gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:24280415|REF_RGD_ID:11041117 12054230 CD36 CD36 molecule gene DOID:9007096 Stroke ISO RGD:619554 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868 12054230 CD36 CD36 molecule gene DOID:9007102 Myocardial Ischemia ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12054230 CD36 CD36 molecule gene DOID:9007692 Insulin Resistance ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:11175782|PMID:25477422|REF_RGD_ID:11041132|REF_RGD_ID:68930 12054230 CD36 CD36 molecule gene DOID:9007692 Insulin Resistance ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14640889 12054230 CD36 CD36 molecule gene DOID:9007692 Insulin Resistance ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:12923231|REF_RGD_ID:11040926 12054230 CD36 CD36 molecule gene DOID:9007692 Insulin Resistance ISO RGD:619555 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:15231693|REF_RGD_ID:2307217 12054230 CD36 CD36 molecule gene DOID:9008885 Staphylococcal Infections ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15690042 12054230 CD36 CD36 molecule gene DOID:9182 pemphigus ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:21255096|REF_RGD_ID:5490304 12054230 CD36 CD36 molecule gene DOID:9351 diabetes mellitus ISO RGD:619555 D RGD:9068941 20200609 RGD protein:increased expression:macrophage PMID:17551591|REF_RGD_ID:2307209 12054230 CD36 CD36 molecule gene DOID:9352 type 2 diabetes mellitus ISO RGD:619554 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:16911630|PMID:16952981|PMID:25741868|PMID:32347024|PMID:32796572 12054230 CD36 CD36 molecule gene DOID:9352 type 2 diabetes mellitus severity ISO RGD:619554 D RGD:9068941 20200609 RGD DNA:SNP:promoter, rs1527479 (human) PMID:16911630|REF_RGD_ID:2307213 12054230 CD36 CD36 molecule gene DOID:9452 fatty liver disease ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:19788606|REF_RGD_ID:6893500 12054230 CD36 CD36 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:619555 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:7544802|REF_RGD_ID:2307219 12054230 CD36 CD36 molecule gene DOID:9970 obesity ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:25477422|REF_RGD_ID:11041132 12054230 CD36 CD36 molecule gene DOID:9970 obesity ISO RGD:2301 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, gastrocnemius PMID:20435456|REF_RGD_ID:6893497 12054230 CD36 CD36 molecule gene DOID:9970 obesity ISO RGD:2301 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle, T-tubule PMID:23743348|REF_RGD_ID:11041118 12054230 CD36 CD36 molecule gene DOID:9970 obesity ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:22615812|REF_RGD_ID:6893542 12054271 TMEM185B transmembrane protein 185B gene DOID:630 genetic disease ISO RGD:1345380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054275 POLR3F RNA polymerase III subunit F gene DOID:0111401 congenital dyserythropoietic anemia type II ISO RGD:1315038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II PMID:28492532 12054275 POLR3F RNA polymerase III subunit F gene DOID:630 genetic disease ISO RGD:1315038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054275 POLR3F RNA polymerase III subunit F gene DOID:9003532 IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC) ISO RGD:1315038 D RGD:7240710 20220629 OMIM 12054275 POLR3F RNA polymerase III subunit F gene DOID:9003532 IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC) ISO RGD:1315038 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Immunodeficiency 101 (varicella zoster virus-specific) 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:0050661 vitelliform macular dystrophy susceptibility ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-625G>A (rs11200638) (human) PMID:22893068|REF_RGD_ID:7394745 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:0060863 patterned macular dystrophy susceptibility ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-625G>A (rs11200638) (human) PMID:22893068|REF_RGD_ID:7394745 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:0080600 COVID-19 ISO RGD:732659 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:0110019 age related macular degeneration 7 ISO RGD:732659 D RGD:7240710 20180130 OMIM 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:0110019 age related macular degeneration 7 ISO RGD:732659 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 7 | ClinVar Annotator: match by term: Susceptibility to neovascular type of age-related macular degeneration PMID:17053108|PMID:17053109|PMID:17568988|PMID:18511946|PMID:19259132|PMID:30068478|PMID:31719132|PMID:34510819|PMID:34626176 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:0110019 age related macular degeneration 7 severity ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snps:promoter, exons:g.-497C>T, g.+108G>T/C, g.5230C>T (rs2672598, rs2293870, rs1049331) (human) PMID:19796758|REF_RGD_ID:7394719 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:0110019 age related macular degeneration 7 susceptibility ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:polymorphisms:multiple (human) PMID:18207215|REF_RGD_ID:7394722 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:0110019 age related macular degeneration 7 susceptibility ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snp:intron:g.IVS1+9824G>A (rs932275) (human) PMID:19933195|REF_RGD_ID:7394713 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:0110019 age related macular degeneration 7 susceptibility ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-497C>T (rs2672598) (human) PMID:18436811|REF_RGD_ID:7394721 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:0111036 CADASIL2 ISO RGD:732659 D RGD:7240710 20190315 OMIM 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:0111036 CADASIL2 ISO RGD:732659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 PMID:19387015|PMID:25712943|PMID:25741868|PMID:26063658|PMID:26467025|PMID:27164673|PMID:28402226|PMID:28492532|PMID:29561953|PMID:29895533|PMID:30447605|PMID:30981321|PMID:31316458|PMID:32101834|PMID:32581362|PMID:34220097 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:10534 stomach cancer ISO RGD:732659 D RGD:9068941 20220609 RGD protein:decreased expression:stomach (human) PMID:25761858|REF_RGD_ID:11058317 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:10534 stomach cancer treatment ISO RGD:732659 D RGD:9068941 20220609 RGD PMID:21447133|REF_RGD_ID:152977763 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:10763 hypertension ISO RGD:732659 D RGD:9068941 20200609 RGD associated with Macular Degeneration; DNA:snp:cds:g.102C>T (rs1049331) (human) PMID:21682878|REF_RGD_ID:7394697 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:10871 age related macular degeneration susceptibility ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-1894G>A (rs3793917) (human) PMID:22618592|REF_RGD_ID:7394695 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:silent mutations:exon:g.+102C>T, g.+108G>T/C (rs1049331, rs2293870) (human) PMID:18164066|REF_RGD_ID:7394724 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-625G>A (rs11200638) (human) PMID:22800422|REF_RGD_ID:7387322 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:1107 esophageal carcinoma disease_progression ISO RGD:732659 D RGD:9068941 20220609 RGD mRNA,protein:decreased expression:esophagus (human) PMID:22935172|REF_RGD_ID:152985525 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:13945 CADASIL ISO RGD:732659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:1790 malignant mesothelioma disease_progression ISO RGD:732659 D RGD:9068941 20220527 RGD protein:increased expression:mesothelium (human) PMID:18681782|REF_RGD_ID:152975625 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:1826 epilepsy ISO RGD:732659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizures PMID:19387015|PMID:25741868|PMID:26063658|PMID:28492532|PMID:29895533|PMID:32101834|PMID:32581362 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:2152 ovary epithelial cancer treatment ISO RGD:732659 D RGD:9068941 20220603 RGD PMID:16767218|REF_RGD_ID:152977756 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:219 colon cancer disease_progression ISO RGD:732659 D RGD:9068941 20220609 RGD DNA:SNP:cds: (rs1049331) (human) PMID:32218415|REF_RGD_ID:152985527 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:2340 craniosynostosis ISO RGD:732659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:3748 esophagus squamous cell carcinoma ameliorates ISO RGD:732659 D RGD:9068941 20220603 RGD human gene and cells in mouse model PMID:23079781|REF_RGD_ID:152975633 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:732659 D RGD:9068941 20220603 RGD mRNA,protein:decreased expression:epithelium of esophagus (human) PMID:23079781|REF_RGD_ID:152975633 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:732659 D RGD:9068941 20220527 RGD protein:decreased expression:lung (human) PMID:32878625|REF_RGD_ID:152975629 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:732659 D RGD:9068941 20220526 RGD human cells in mouse model PMID:24356998|REF_RGD_ID:152975621 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:4448 macular degeneration ISO RGD:732659 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:18164066|PMID:18316707|PMID:20437615|PMID:25741868|PMID:26467025|PMID:27338780|PMID:28492532|PMID:28782182|PMID:32017060 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:630 genetic disease ISO RGD:732659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:732659 D RGD:9068941 20220609 RGD mRNA:decreased expression:liver (human) PMID:26403966|REF_RGD_ID:152985529 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:732659 D RGD:9068941 20220609 RGD protein:decreased expression:liver (human) PMID:20943460|REF_RGD_ID:152985524 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:8577 ulcerative colitis ISO RGD:732659 D RGD:9068941 20220609 RGD protein:decreased expression:colonic epithelium,colonic mucosa (human) PMID:28586045|REF_RGD_ID:152985530 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:8725 vascular dementia ISO RGD:732659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:24500651|PMID:25741868|PMID:33268848|PMID:35307828 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-625G>A (rs11200638) (human) PMID:18682806|REF_RGD_ID:7394694 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:732659 D RGD:9068941 20200609 RGD human gene in mouse model PMID:21844367|REF_RGD_ID:7394749 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:9001044 Choroidal Neovascularization no_association ISO RGD:732659 D RGD:9068941 20200609 RGD associated with Myopia; DNA:snp:promoter:g.-625G>A (rs11200638) (human) PMID:19680273|REF_RGD_ID:7394720 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:9001147 Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy ISO RGD:732659 D RGD:7240710 20180130 OMIM 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:9001147 Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy ISO RGD:732659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARASIL syndrome | ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease | ClinVar Annotator: match by term: HTRA1-related cerebral small vessel disease PMID:11889251|PMID:18316707|PMID:19387015|PMID:20437615|PMID:21115960|PMID:21482952|PMID:22900900|PMID:23963851|PMID:24500651|PMID:24535794|PMID:25741868|PMID:25770224|PMID:25772074|PMID:25957642|PMID:26063658|PMID:26467025|PMID:27164673|PMID:27353043|PMID:28492532|PMID:28782182|PMID:29561953|PMID:29895533|PMID:30859180|PMID:31316458|PMID:32101834|PMID:32581362|PMID:33268848|PMID:34220097 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:9001427 Geographic Atrophy ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-625G>A (rs11200638) (human) PMID:17426452|REF_RGD_ID:7394693 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:732659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:19387015|PMID:25741868|PMID:26063658|PMID:28492532|PMID:29895533|PMID:32101834|PMID:32581362 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:9008537 Polypoidal Choroidal Vasculopathy ISO RGD:732659 D RGD:9068941 20200609 RGD human gene in mouse model PMID:21844367|REF_RGD_ID:7394749 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:9008537 Polypoidal Choroidal Vasculopathy susceptibility ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-625G>A (rs11200638) (human) PMID:23326481|REF_RGD_ID:7394751 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:9256 colorectal cancer ISO RGD:732659 D RGD:9068941 20220609 RGD protein:decreased expression:colonic epithelium,colonic mucosa (human) PMID:28586045|REF_RGD_ID:152985530 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:9256 colorectal cancer exacerbates ISO RGD:732659 D RGD:9068941 20220609 RGD mRNA, protein:increased expression,decreased expression:colorectal mucosa (human) PMID:32486357|REF_RGD_ID:152977762 12054297 HTRA1 HtrA serine peptidase 1 gene DOID:9351 diabetes mellitus ISO RGD:732659 D RGD:9068941 20220527 RGD associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:decreased expression:lung (human) PMID:27411924|REF_RGD_ID:152975631 12054309 HFM1 helicase for meiosis 1 gene DOID:0070176 spermatogenic failure 4 ISO RGD:1606438 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 4 12054309 HFM1 helicase for meiosis 1 gene DOID:0080866 primary ovarian insufficiency 9 ISO RGD:1606438 D RGD:7240710 20180130 OMIM 12054309 HFM1 helicase for meiosis 1 gene DOID:0080866 primary ovarian insufficiency 9 ISO RGD:1606438 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 9 PMID:24597873|PMID:25741868 12054309 HFM1 helicase for meiosis 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1606438 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 12054309 HFM1 helicase for meiosis 1 gene DOID:14227 azoospermia ISO RGD:1606438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 12054309 HFM1 helicase for meiosis 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 12054309 HFM1 helicase for meiosis 1 gene DOID:630 genetic disease ISO RGD:1606438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054364 CALCOCO2 calcium binding and coiled-coil domain 2 gene DOID:630 genetic disease ISO RGD:1601886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054364 CALCOCO2 calcium binding and coiled-coil domain 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1601886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 12054391 COG5 component of oligomeric golgi complex 5 gene DOID:0060224 atrial fibrillation ISO RGD:1319696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12054391 COG5 component of oligomeric golgi complex 5 gene DOID:0070261 congenital disorder of glycosylation type IIi ISO RGD:1319696 D RGD:7240710 20180130 OMIM 12054391 COG5 component of oligomeric golgi complex 5 gene DOID:0070261 congenital disorder of glycosylation type IIi ISO RGD:1319696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG IIi | ClinVar Annotator: match by term: COG5-CDG PMID:16199547|PMID:17576681|PMID:19690088|PMID:23228021|PMID:23430875|PMID:24033266|PMID:25331899|PMID:25640679|PMID:25741868|PMID:28492532|PMID:28567303|PMID:28708303|PMID:29878199|PMID:31175295|PMID:31572517|PMID:32174980|PMID:33277529|PMID:9536098 12054391 COG5 component of oligomeric golgi complex 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12054391 COG5 component of oligomeric golgi complex 5 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1319696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 12054391 COG5 component of oligomeric golgi complex 5 gene DOID:630 genetic disease ISO RGD:1319696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12054391 COG5 component of oligomeric golgi complex 5 gene DOID:9006549 Enterovirus Infections ISO RGD:1319696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28446605 12054420 LTF lactotransferrin gene DOID:0050589 inflammatory bowel disease ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:9791051|REF_RGD_ID:7243943 12054420 LTF lactotransferrin gene DOID:10763 hypertension ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24587916 12054420 LTF lactotransferrin gene DOID:11476 osteoporosis ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16648989|PMID:16936800 12054420 LTF lactotransferrin gene DOID:13250 diarrhea ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16640825 12054420 LTF lactotransferrin gene DOID:13689 prostate calculus ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:19202053|REF_RGD_ID:7243107 12054420 LTF lactotransferrin gene DOID:14262 oral candidiasis ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16640825 12054420 LTF lactotransferrin gene DOID:14566 disease of cellular proliferation ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16640825 12054420 LTF lactotransferrin gene DOID:1508 candidiasis ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:17922408|REF_RGD_ID:7243948 12054420 LTF lactotransferrin gene DOID:2272 vulvovaginal candidiasis ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16640825 12054420 LTF lactotransferrin gene DOID:289 endometriosis ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12054420 LTF lactotransferrin gene DOID:381 arthropathy ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16640825 12054420 LTF lactotransferrin gene DOID:3908 lung non-small cell carcinoma ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:21532506|REF_RGD_ID:7243860 12054420 LTF lactotransferrin gene DOID:4450 renal cell carcinoma ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:23201854|REF_RGD_ID:7243106 12054420 LTF lactotransferrin gene DOID:630 genetic disease ISO RGD:1313477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054420 LTF lactotransferrin gene DOID:65 connective tissue disease ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:8296641|REF_RGD_ID:7243945 12054420 LTF lactotransferrin gene DOID:8577 ulcerative colitis ISO RGD:1313477 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16640825|PMID:35999755 12054420 LTF lactotransferrin gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16640825 12054420 LTF lactotransferrin gene DOID:9000310 Lung Injury ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:16905637|REF_RGD_ID:7243109 12054420 LTF lactotransferrin gene DOID:9001600 Wounds and Injuries ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16640825 12054420 LTF lactotransferrin gene DOID:9001981 Weight Loss ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24587916 12054420 LTF lactotransferrin gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1313477 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12054420 LTF lactotransferrin gene DOID:9002928 Colonic Neoplasms ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12079509 12054420 LTF lactotransferrin gene DOID:9003507 Premature Birth ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16640825 12054420 LTF lactotransferrin gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:23201854|REF_RGD_ID:7243106 12054420 LTF lactotransferrin gene DOID:9004484 Sepsis ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:23425819|REF_RGD_ID:7243861 12054420 LTF lactotransferrin gene DOID:9004786 Carbon Tetrachloride Poisoning ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16141546 12054420 LTF lactotransferrin gene DOID:9005372 Inflammation ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16141546 12054420 LTF lactotransferrin gene DOID:9006024 Hypotension ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563657 12054420 LTF lactotransferrin gene DOID:9007188 Liver Neoplasms ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12079509 12054420 LTF lactotransferrin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16141546 12054420 LTF lactotransferrin gene DOID:9008261 Chemically-Induced Disorders ISO RGD:1313477 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 12054420 LTF lactotransferrin gene DOID:9008821 Otitis Media with Effusion treatment ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:21079169|REF_RGD_ID:11554025 12054420 LTF lactotransferrin gene DOID:9008885 Staphylococcal Infections ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:10030017|REF_RGD_ID:7243953 12054420 LTF lactotransferrin gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15651117 12054441 PEX11G peroxisomal biogenesis factor 11 gamma gene DOID:0080490 mucolipidosis type IV ISO RGD:1316043 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12054441 PEX11G peroxisomal biogenesis factor 11 gamma gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1316043 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 PMID:28492532 12054441 PEX11G peroxisomal biogenesis factor 11 gamma gene DOID:630 genetic disease ISO RGD:1316043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054456 OR56A4C olfactory receptor family 56 subfamily A member 4C gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12054456 OR56A4C olfactory receptor family 56 subfamily A member 4C gene DOID:630 genetic disease ISO RGD:1344603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054459 OR56B6 olfactory receptor family 56 subfamily B member 6 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1348653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12054459 OR56B6 olfactory receptor family 56 subfamily B member 6 gene DOID:630 genetic disease ISO RGD:1348653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054462 INTS8 integrator complex subunit 8 gene DOID:10283 prostate cancer ISO RGD:1604344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12054462 INTS8 integrator complex subunit 8 gene DOID:2843 long QT syndrome ISO RGD:1604344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12054462 INTS8 integrator complex subunit 8 gene DOID:630 genetic disease ISO RGD:1604344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054462 INTS8 integrator complex subunit 8 gene DOID:9009083 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY ISO RGD:1604344 D RGD:7240710 20191016 OMIM 12054462 INTS8 integrator complex subunit 8 gene DOID:9009083 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY ISO RGD:1604344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity PMID:25741868|PMID:28763441 12054492 MRPL39 mitochondrial ribosomal protein L39 gene DOID:10652 Alzheimer's disease ISO RGD:1348143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562|PMID:25741868 12054492 MRPL39 mitochondrial ribosomal protein L39 gene DOID:3652 Leigh disease ISO RGD:1348143 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868 12054492 MRPL39 mitochondrial ribosomal protein L39 gene DOID:630 genetic disease ISO RGD:1348143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054492 MRPL39 mitochondrial ribosomal protein L39 gene DOID:700 mitochondrial metabolism disease ISO RGD:1348143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease 12054492 MRPL39 mitochondrial ribosomal protein L39 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12054509 EIF5A2 eukaryotic translation initiation factor 5A2 gene DOID:1062 Fanconi syndrome ISO RGD:1314674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 12054509 EIF5A2 eukaryotic translation initiation factor 5A2 gene DOID:630 genetic disease ISO RGD:1314674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054509 EIF5A2 eukaryotic translation initiation factor 5A2 gene DOID:9002644 Premature Aging ISO RGD:1314674 D RGD:9068941 20200609 RGD PMID:21612665|REF_RGD_ID:10395359 12054517 ASIC4 acid sensing ion channel subunit family member 4 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1604616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12054517 ASIC4 acid sensing ion channel subunit family member 4 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1604616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12054517 ASIC4 acid sensing ion channel subunit family member 4 gene DOID:1148 polydactyly ISO RGD:1604616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 12054517 ASIC4 acid sensing ion channel subunit family member 4 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1604616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12054517 ASIC4 acid sensing ion channel subunit family member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12054531 FAXDC2 fatty acid hydroxylase domain containing 2 gene DOID:630 genetic disease ISO RGD:1319694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054531 FAXDC2 fatty acid hydroxylase domain containing 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1319694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12054544 NEK8 NIMA related kinase 8 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1552572 D RGD:9068941 20220825 MouseDO OMIM:263200 12054544 NEK8 NIMA related kinase 8 gene DOID:0111120 nephronophthisis 9 ISO RGD:1315774 D RGD:7240710 20180130 OMIM 12054544 NEK8 NIMA related kinase 8 gene DOID:0111120 nephronophthisis 9 ISO RGD:1315774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 9 PMID:16199547|PMID:17576681|PMID:18199800|PMID:22106379|PMID:23026745|PMID:23418306|PMID:25741868|PMID:26697755|PMID:26967905|PMID:28492532|PMID:9536098 12054544 NEK8 NIMA related kinase 8 gene DOID:5426 primary ovarian insufficiency ISO RGD:1315774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:23418306|PMID:25741868|PMID:28492532 12054544 NEK8 NIMA related kinase 8 gene DOID:557 kidney disease ISO RGD:1315774 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 12054544 NEK8 NIMA related kinase 8 gene DOID:630 genetic disease ISO RGD:1315774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12054544 NEK8 NIMA related kinase 8 gene DOID:9001222 Renal-Hepatic-Pancreatic Dysplasia 2 ISO RGD:1315774 D RGD:7240710 20180130 OMIM 12054544 NEK8 NIMA related kinase 8 gene DOID:9001222 Renal-Hepatic-Pancreatic Dysplasia 2 ISO RGD:1315774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 2 PMID:19550299|PMID:23418306|PMID:25741868|PMID:25741876|PMID:26697755|PMID:26862157|PMID:26967905|PMID:28492532 12054544 NEK8 NIMA related kinase 8 gene DOID:9003100 Pancreatic Neoplasms ISO RGD:1315774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic neoplasm PMID:20581473 12054572 INTS6L integrator complex subunit 6 like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12054572 INTS6L integrator complex subunit 6 like gene DOID:12849 autistic disorder ISO RGD:1343446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12054572 INTS6L integrator complex subunit 6 like gene DOID:13501 Moebius syndrome ISO RGD:1343446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 12054572 INTS6L integrator complex subunit 6 like gene DOID:630 genetic disease ISO RGD:1343446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054595 LIX1L limb and CNS expressed 1 like gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1350339 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 12054595 LIX1L limb and CNS expressed 1 like gene DOID:1540 parathyroid carcinoma ISO RGD:1350339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12054595 LIX1L limb and CNS expressed 1 like gene DOID:5419 schizophrenia ISO RGD:1350339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12054595 LIX1L limb and CNS expressed 1 like gene DOID:630 genetic disease ISO RGD:1350339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054595 LIX1L limb and CNS expressed 1 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12054611 ABHD18 abhydrolase domain containing 18 gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1604791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:19177532|PMID:28492532 12054611 ABHD18 abhydrolase domain containing 18 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604791 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 12054611 ABHD18 abhydrolase domain containing 18 gene DOID:630 genetic disease ISO RGD:1604791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054634 PLEKHG4B pleckstrin homology and RhoGEF domain containing G4B gene DOID:10283 prostate cancer ISO RGD:1606952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12054634 PLEKHG4B pleckstrin homology and RhoGEF domain containing G4B gene DOID:630 genetic disease ISO RGD:1606952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054634 PLEKHG4B pleckstrin homology and RhoGEF domain containing G4B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12054676 SUGT1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1316810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12054676 SUGT1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone gene DOID:1059 intellectual disability ISO RGD:1316810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12054676 SUGT1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone gene DOID:630 genetic disease ISO RGD:1316810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054694 MIS18A MIS18 kinetochore protein A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1321877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12054694 MIS18A MIS18 kinetochore protein A gene DOID:0060898 Parkinson's disease 20 ISO RGD:1321877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12054694 MIS18A MIS18 kinetochore protein A gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1321877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12054694 MIS18A MIS18 kinetochore protein A gene DOID:630 genetic disease ISO RGD:1321877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054694 MIS18A MIS18 kinetochore protein A gene DOID:9005698 ZTTK Syndrome ISO RGD:1321877 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 12054706 BAIAP2L2 BAR/IMD domain containing adaptor protein 2 like 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1342805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12054706 BAIAP2L2 BAR/IMD domain containing adaptor protein 2 like 2 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1342805 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12054706 BAIAP2L2 BAR/IMD domain containing adaptor protein 2 like 2 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1342805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12054706 BAIAP2L2 BAR/IMD domain containing adaptor protein 2 like 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1342805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12054706 BAIAP2L2 BAR/IMD domain containing adaptor protein 2 like 2 gene DOID:630 genetic disease ISO RGD:1342805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054722 CCDC85C coiled-coil domain containing 85C gene DOID:10908 hydrocephalus ISO RGD:1589818 D RGD:9068941 20211029 RGD PMID:31341137|REF_RGD_ID:150520163 12054722 CCDC85C coiled-coil domain containing 85C gene DOID:10908 hydrocephalus ISO RGD:1613682 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 12054722 CCDC85C coiled-coil domain containing 85C gene DOID:630 genetic disease ISO RGD:1344482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054722 CCDC85C coiled-coil domain containing 85C gene DOID:9009238 INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES ISO RGD:1344482 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with hypertelorism and distinctive facies PMID:25741868 12054742 TAL2 TAL bHLH transcription factor 2 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1351744 D RGD:9068941 20200609 RGD PMID:1763056|REF_RGD_ID:1599285 12054742 TAL2 TAL bHLH transcription factor 2 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1351744 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:10545611|PMID:17044012|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19266496|PMID:27065010|PMID:28492532 12054742 TAL2 TAL bHLH transcription factor 2 gene DOID:630 genetic disease ISO RGD:1351744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054742 TAL2 TAL bHLH transcription factor 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1351744 D RGD:7240710 20230505 OMIM 12054754 CARD6 caspase recruitment domain family member 6 gene DOID:0080600 COVID-19 ISO RGD:1314062 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12054754 CARD6 caspase recruitment domain family member 6 gene DOID:630 genetic disease ISO RGD:1314062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054754 CARD6 caspase recruitment domain family member 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12054761 TK1 thymidine kinase 1 gene DOID:0080600 COVID-19 ISO RGD:736473 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12054761 TK1 thymidine kinase 1 gene DOID:1612 breast cancer ISO RGD:736473 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:10883887|REF_RGD_ID:2317242 12054761 TK1 thymidine kinase 1 gene DOID:2893 cervix carcinoma ISO RGD:736473 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:11474248|REF_RGD_ID:2317243 12054761 TK1 thymidine kinase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736473 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:15583816|REF_RGD_ID:2317237 12054761 TK1 thymidine kinase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:736473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12054761 TK1 thymidine kinase 1 gene DOID:630 genetic disease ISO RGD:736473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054761 TK1 thymidine kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12054761 TK1 thymidine kinase 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 12054761 TK1 thymidine kinase 1 gene DOID:9006205 Animal Disease Models ISO RGD:736473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12054761 TK1 thymidine kinase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 12054772 MIR30D microRNA mir-30d gene DOID:0060071 pre-malignant neoplasm ISO RGD:1344201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12054772 MIR30D microRNA mir-30d gene DOID:3021 acute kidney failure ISO RGD:1344201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 12054772 MIR30D microRNA mir-30d gene DOID:557 kidney disease ISO RGD:1344201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 12054772 MIR30D microRNA mir-30d gene DOID:9000784 Fibrosis ISO RGD:1344201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 12054772 MIR30D microRNA mir-30d gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1344201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12054772 MIR30D microRNA mir-30d gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1344201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 12054772 MIR30D microRNA mir-30d gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1344201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22048643 12054824 ALKAL2 ALK and LTK ligand 2 gene DOID:630 genetic disease ISO RGD:1602961 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054845 AKAIN1 A-kinase anchor inhibitor 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:5131749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12054845 AKAIN1 A-kinase anchor inhibitor 1 gene DOID:1059 intellectual disability ISO RGD:5131749 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12054845 AKAIN1 A-kinase anchor inhibitor 1 gene DOID:630 genetic disease ISO RGD:5131749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054877 NHLH1 nescient helix-loop-helix 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1321059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12054877 NHLH1 nescient helix-loop-helix 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1321059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12054877 NHLH1 nescient helix-loop-helix 1 gene DOID:630 genetic disease ISO RGD:1321059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054877 NHLH1 nescient helix-loop-helix 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12054882 CCL8 C-C motif chemokine ligand 8 gene DOID:0060496 respiratory allergy ISO RGD:1349694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085522 12054882 CCL8 C-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 ISO RGD:1349694 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12054882 CCL8 C-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 ISO RGD:1349694 D RGD:9068941 20200618 RGD protein:increased expression:serum: PMID:32416070|REF_RGD_ID:30296676 12054882 CCL8 C-C motif chemokine ligand 8 gene DOID:0081267 graft-versus-host disease ISO RGD:1617609 D RGD:9068941 20230504 RGD PMID:19571824|REF_RGD_ID:4892067 12054882 CCL8 C-C motif chemokine ligand 8 gene DOID:1205 allergic disease ISO RGD:1349694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12054882 CCL8 C-C motif chemokine ligand 8 gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1617609 D RGD:9068941 20230504 RGD PMID:16988274|REF_RGD_ID:4892091 12054882 CCL8 C-C motif chemokine ligand 8 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1349694 D RGD:9068941 20200609 RGD PMID:20970515|REF_RGD_ID:5131087 12054882 CCL8 C-C motif chemokine ligand 8 gene DOID:4483 rhinitis ISO RGD:1349694 D RGD:9068941 20200609 RGD PMID:20625511|REF_RGD_ID:5131089 12054882 CCL8 C-C motif chemokine ligand 8 gene DOID:552 pneumonia ISO RGD:1349694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12054882 CCL8 C-C motif chemokine ligand 8 gene DOID:630 genetic disease ISO RGD:1349694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054882 CCL8 C-C motif chemokine ligand 8 gene DOID:7148 rheumatoid arthritis ISO RGD:1349694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 12054882 CCL8 C-C motif chemokine ligand 8 gene DOID:9001488 Human Influenza ISO RGD:1349694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12054882 CCL8 C-C motif chemokine ligand 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12054882 CCL8 C-C motif chemokine ligand 8 gene DOID:9007889 Nephrogenic Fibrosing Dermopathy ISO RGD:1349694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20959327 12054887 TACC1 transforming acidic coiled-coil containing protein 1 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1342908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 12054887 TACC1 transforming acidic coiled-coil containing protein 1 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1342908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 12054887 TACC1 transforming acidic coiled-coil containing protein 1 gene DOID:1826 epilepsy ISO RGD:1342908 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12054887 TACC1 transforming acidic coiled-coil containing protein 1 gene DOID:607 paraplegia ISO RGD:1342908 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12054887 TACC1 transforming acidic coiled-coil containing protein 1 gene DOID:630 genetic disease ISO RGD:1342908 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12054918 COX7A2L cytochrome c oxidase subunit 7A2 like gene DOID:3883 Lynch syndrome ISO RGD:1314534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12054925 KLHL24 kelch like family member 24 gene DOID:0080511 epidermolysis bullosa simplex generalized type ISO RGD:1603221 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type PMID:25741868|PMID:27798626|PMID:27889062|PMID:29779254|PMID:30120936|PMID:30226531|PMID:34292882|PMID:34740256 12054925 KLHL24 kelch like family member 24 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1603221 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12054925 KLHL24 kelch like family member 24 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1603221 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12054925 KLHL24 kelch like family member 24 gene DOID:0111546 Currarino syndrome ISO RGD:1603221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12054925 KLHL24 kelch like family member 24 gene DOID:630 genetic disease ISO RGD:1603221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12054925 KLHL24 kelch like family member 24 gene DOID:9000523 Generalized Epidermolysis Bullosa Simplex 1B ISO RGD:1603221 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type PMID:25741868|PMID:27798626|PMID:27889062|PMID:29779254|PMID:30120936|PMID:30226531|PMID:34292882|PMID:34740256 12054925 KLHL24 kelch like family member 24 gene DOID:9006455 Generalized Epidermolysis Bullosa Simplex 6 with Scarring and Hair Loss ISO RGD:1603221 D RGD:7240710 20190315 OMIM 12054925 KLHL24 kelch like family member 24 gene DOID:9006455 Generalized Epidermolysis Bullosa Simplex 6 with Scarring and Hair Loss ISO RGD:1603221 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss PMID:25741868|PMID:27798626|PMID:27889062|PMID:29779254|PMID:30120936|PMID:30226531|PMID:31649980|PMID:34292882|PMID:34740256 12054925 KLHL24 kelch like family member 24 gene DOID:9009148 Hypertrophic Cardiomyopathy 29 ISO RGD:1603221 D RGD:7240710 20230215 OMIM 12054925 KLHL24 kelch like family member 24 gene DOID:9009148 Hypertrophic Cardiomyopathy 29 ISO RGD:1603221 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies PMID:30715372 12054946 UBB ubiquitin B gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1344008 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:22994484 12054946 UBB ubiquitin B gene DOID:630 genetic disease ISO RGD:1344008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054951 CLUAP1 clusterin associated protein 1 gene DOID:0050777 Joubert syndrome ISO RGD:1354421 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532|PMID:28679688 12054951 CLUAP1 clusterin associated protein 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1354421 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12054951 CLUAP1 clusterin associated protein 1 gene DOID:0111705 oculoectodermal syndrome ISO RGD:1354421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome PMID:26820066 12054951 CLUAP1 clusterin associated protein 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1354421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:26820066 12054951 CLUAP1 clusterin associated protein 1 gene DOID:1826 epilepsy ISO RGD:1354421 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12054951 CLUAP1 clusterin associated protein 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1354421 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12054951 CLUAP1 clusterin associated protein 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1354421 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12054951 CLUAP1 clusterin associated protein 1 gene DOID:630 genetic disease ISO RGD:1354421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12054970 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:0050700 cardiomyopathy ISO RGD:734286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14729820 12054970 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:734286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12054970 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:734286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868|PMID:28492532|PMID:9570948 12054970 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:734286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532|PMID:9570948 12054970 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:0112092 nuclear type mitochondrial complex I deficiency 7 ISO RGD:734286 D RGD:7240710 20190315 OMIM 12054970 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:0112092 nuclear type mitochondrial complex I deficiency 7 ISO RGD:734286 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 PMID:25741868|PMID:26008862|PMID:28492532|PMID:30369941|PMID:9570948 12054970 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:1059 intellectual disability ISO RGD:734286 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12054970 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:734286 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A29V PMID:9570948|REF_RGD_ID:2302386 12054970 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:3312 bipolar disorder ISO RGD:734286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19135101 12054970 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:5419 schizophrenia ISO RGD:734286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19135101 12054970 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:543 dystonia ISO RGD:734286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 12054970 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:630 genetic disease ISO RGD:734286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054970 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:890 mitochondrial encephalomyopathy ISO RGD:734286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14729820 12054970 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:9002877 Parkinson's Disease, Mitochondrial ISO RGD:734286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, mitochondrial PMID:25741868|PMID:28492532|PMID:9570948 12054982 PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1602671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12054982 PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1602671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12054982 PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase gene DOID:0112103 Sotos syndrome 1 ISO RGD:1602671 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12054982 PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase gene DOID:630 genetic disease ISO RGD:1602671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12054982 PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase gene DOID:9003537 Phosphohydroxylysinuria ISO RGD:1602671 D RGD:7240710 20180130 OMIM 12054982 PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase gene DOID:9003537 Phosphohydroxylysinuria ISO RGD:1602671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phosphohydroxylysinuria PMID:23242558 12054999 SH3BP5L SH3 binding domain protein 5 like gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1606500 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12054999 SH3BP5L SH3 binding domain protein 5 like gene DOID:630 genetic disease ISO RGD:1606500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12055011 LOC484969 zinc finger protein 177 gene DOID:12849 autistic disorder ISO RGD:1353253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12055011 LOC484969 zinc finger protein 177 gene DOID:630 genetic disease ISO RGD:1353253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12055011 LOC484969 zinc finger protein 177 gene DOID:9000217 Stomach Neoplasms ISO RGD:1353253 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12055026 NCK1 NCK adaptor protein 1 gene DOID:1184 nephrotic syndrome ISO RGD:1321736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19443634 12055026 NCK1 NCK adaptor protein 1 gene DOID:576 proteinuria ISO RGD:1321736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19443634 12055026 NCK1 NCK adaptor protein 1 gene DOID:630 genetic disease ISO RGD:1321736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12055026 NCK1 NCK adaptor protein 1 gene DOID:9001542 Albuminuria ISO RGD:1321736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19443634 12055026 NCK1 NCK adaptor protein 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1321736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12055048 TECTB tectorin beta gene DOID:630 genetic disease ISO RGD:1314106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12055067 USP37 ubiquitin specific peptidase 37 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1315889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12055067 USP37 ubiquitin specific peptidase 37 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1315889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12055067 USP37 ubiquitin specific peptidase 37 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1315889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12055067 USP37 ubiquitin specific peptidase 37 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1315889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12055067 USP37 ubiquitin specific peptidase 37 gene DOID:630 genetic disease ISO RGD:1315889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12055067 USP37 ubiquitin specific peptidase 37 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12055108 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12055108 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:0080431 developmental and epileptic encephalopathy 19 ISO RGD:730902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 19 PMID:16718694|PMID:18414213|PMID:24623842|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27353043|PMID:27521439|PMID:27622563|PMID:28492532|PMID:28554332|PMID:29389947|PMID:29655203|PMID:32047208|PMID:32238909 12055108 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:0080431 developmental and epileptic encephalopathy 19 susceptibility ISO RGD:730902 D RGD:7240710 20230505 OMIM 12055108 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:0111314 idiopathic generalized epilepsy 13 ISO RGD:730902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 13 PMID:11992121|PMID:16530959|PMID:16569738|PMID:18414213|PMID:18534981|PMID:20551311|PMID:21714819|PMID:24623842|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27353043|PMID:27521439|PMID:28251550|PMID:28492532|PMID:29655203 12055108 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:0111314 idiopathic generalized epilepsy 13 susceptibility ISO RGD:730902 D RGD:7240710 20190904 OMIM 12055108 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:10003 sensorineural hearing loss ISO RGD:730902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:28492532 12055108 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:1059 intellectual disability ISO RGD:730902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12055108 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:12849 autistic disorder ISO RGD:730902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18821008 12055108 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:13413 hepatic encephalopathy ISO RGD:61855 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:15929193|REF_RGD_ID:6480237 12055108 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:13413 hepatic encephalopathy ISO RGD:730902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15929193 12055108 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:1825 childhood absence epilepsy ISO RGD:730902 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4 PMID:16718694 12055108 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:1826 epilepsy ISO RGD:730902 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Intractable seizure | ClinVar Annotator: match by term: Seizure PMID:16530959|PMID:16569738|PMID:18414213|PMID:24623842|PMID:24909990|PMID:25741868|PMID:26467025|PMID:27353043|PMID:27521439|PMID:28251550|PMID:28492532|PMID:29655203 12055108 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:1826 epilepsy ISO RGD:730902 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intractable seizure | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:27353043|PMID:27521439|PMID:28492532|PMID:29655203 12055108 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:730902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:16199547|PMID:16530959|PMID:16569738|PMID:16718694|PMID:17576681|PMID:18414213|PMID:21703448|PMID:22190369|PMID:24623842|PMID:24811917|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27353043|PMID:27521439|PMID:27622563|PMID:28251550|PMID:28492532|PMID:28554332|PMID:28837158|PMID:28864462|PMID:29186148|PMID:29655203|PMID:31164858|PMID:32238909|PMID:9536098 12055108 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:730902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile myoclonic epilepsy 12055108 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:4990 essential tremor ISO RGD:730902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15765150 12055108 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:5119 ovarian cyst ISO RGD:730902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12055108 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:630 genetic disease ISO RGD:730902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16530959|PMID:16569738|PMID:18414213|PMID:21703448|PMID:24623842|PMID:24909990|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27521439|PMID:27622563|PMID:28251550|PMID:28492532 12055108 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12055108 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:9004866 Ataxia ISO RGD:730902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12404077 12055108 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:730902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:18414213|PMID:25741868|PMID:28492532 12055123 DIP2A disco interacting protein 2 homolog A gene DOID:0060041 autism spectrum disorder ISO RGD:1319135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12055123 DIP2A disco interacting protein 2 homolog A gene DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II ISO RGD:1317412 D RGD:9068941 20220825 MouseDO OMIM:210720 12055123 DIP2A disco interacting protein 2 homolog A gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1319135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 12055123 DIP2A disco interacting protein 2 homolog A gene DOID:12849 autistic disorder ISO RGD:1319135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12055123 DIP2A disco interacting protein 2 homolog A gene DOID:2843 long QT syndrome ISO RGD:1319135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12055123 DIP2A disco interacting protein 2 homolog A gene DOID:630 genetic disease ISO RGD:1319135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12055166 KIAA0753 KIAA0753 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605106 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868|PMID:28492532|PMID:29138412|PMID:31816441 12055166 KIAA0753 KIAA0753 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1605106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 12055166 KIAA0753 KIAA0753 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1605106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 12055166 KIAA0753 KIAA0753 gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:1605106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 12055166 KIAA0753 KIAA0753 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1605106 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12055166 KIAA0753 KIAA0753 gene DOID:630 genetic disease ISO RGD:1605106 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29138412 12055166 KIAA0753 KIAA0753 gene DOID:9005357 Orofaciodigital Syndrome XV ISO RGD:1605106 D RGD:7240710 20190315 OMIM 12055166 KIAA0753 KIAA0753 gene DOID:9005357 Orofaciodigital Syndrome XV ISO RGD:1605106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome XV PMID:17576681|PMID:25741868|PMID:26643951|PMID:28492532|PMID:29138412|PMID:9536098 12055166 KIAA0753 KIAA0753 gene DOID:9005615 Joubert Syndrome 38 ISO RGD:1605106 D RGD:7240710 20210825 OMIM 12055166 KIAA0753 KIAA0753 gene DOID:9005615 Joubert Syndrome 38 ISO RGD:1605106 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Joubert syndrome 38 PMID:25741868|PMID:28220259|PMID:28492532 12055166 KIAA0753 KIAA0753 gene DOID:9008070 Short-Rib Thoracic Dysplasia 21 without Polydactyly ISO RGD:1605106 D RGD:7240710 20210825 OMIM 12055166 KIAA0753 KIAA0753 gene DOID:9008070 Short-Rib Thoracic Dysplasia 21 without Polydactyly ISO RGD:1605106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 21 without polydactyly PMID:25741868|PMID:28492532|PMID:29138412|PMID:31816441|PMID:34016807|PMID:34523780 12055194 FGF1 fibroblast growth factor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735698 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12055194 FGF1 fibroblast growth factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:735698 D RGD:9068941 20200609 RGD PMID:20079650|REF_RGD_ID:5509878 12055194 FGF1 fibroblast growth factor 1 gene DOID:11054 urinary bladder cancer ISO RGD:735698 D RGD:9068941 20200609 RGD PMID:11908679|REF_RGD_ID:2290291 12055194 FGF1 fibroblast growth factor 1 gene DOID:1240 leukemia ISO RGD:735698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17219402 12055194 FGF1 fibroblast growth factor 1 gene DOID:127 leiomyoma disease_progression ISO RGD:735698 D RGD:9068941 20200609 RGD protein:increased expression:uterus PMID:16139411|REF_RGD_ID:2290287 12055194 FGF1 fibroblast growth factor 1 gene DOID:1380 endometrial cancer disease_progression ISO RGD:735698 D RGD:9068941 20200609 RGD mRNA:increased expression:myometrium PMID:8685603|REF_RGD_ID:2298516 12055194 FGF1 fibroblast growth factor 1 gene DOID:2316 brain ischemia ISO RGD:2605 D RGD:9068941 20200609 RGD PMID:19497570|REF_RGD_ID:5509879 12055194 FGF1 fibroblast growth factor 1 gene DOID:2316 brain ischemia ISO RGD:735698 D RGD:9068941 20200609 RGD Rat model using human FGF1 PMID:16635575|REF_RGD_ID:5509881 12055194 FGF1 fibroblast growth factor 1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:735698 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:14613644|REF_RGD_ID:2290288 12055194 FGF1 fibroblast growth factor 1 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:735698 D RGD:9068941 20200609 RGD protein:increased expression:urine, urinary bladder PMID:7690426|REF_RGD_ID:2298518 12055194 FGF1 fibroblast growth factor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:735698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16324872 12055194 FGF1 fibroblast growth factor 1 gene DOID:5419 schizophrenia ISO RGD:735698 D RGD:9068941 20200609 RGD GWAS result PMID:17893707|REF_RGD_ID:5509880 12055194 FGF1 fibroblast growth factor 1 gene DOID:5844 myocardial infarction treatment ISO RGD:735698 D RGD:9068941 20200609 RGD PMID:24200746|REF_RGD_ID:10449026 12055194 FGF1 fibroblast growth factor 1 gene DOID:630 genetic disease ISO RGD:735698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12055194 FGF1 fibroblast growth factor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2605 D RGD:9068941 20200609 RGD PMID:20488178|PMID:8662542|REF_RGD_ID:5509876|REF_RGD_ID:5509877 12055194 FGF1 fibroblast growth factor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:735698 D RGD:9068941 20200609 RGD PMID:21663406|REF_RGD_ID:5509875 12055194 FGF1 fibroblast growth factor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:735698 D RGD:9068941 20200609 RGD Human FGF1 used in rat model of spinal cord injury PMID:18482974|REF_RGD_ID:2317692 12055194 FGF1 fibroblast growth factor 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:735698 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms;mRNA:increased expression:lymph node PMID:17242701|REF_RGD_ID:2290286 12055194 FGF1 fibroblast growth factor 1 gene DOID:9001472 Nasal Polyps ISO RGD:735698 D RGD:9068941 20200609 RGD PMID:16720444|REF_RGD_ID:8655569 12055194 FGF1 fibroblast growth factor 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:735698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25174399 12055194 FGF1 fibroblast growth factor 1 gene DOID:9003566 Mesothelioma ISO RGD:735698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15878867 12055194 FGF1 fibroblast growth factor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2605 D RGD:9068941 20200609 RGD PMID:19497570|REF_RGD_ID:5509879 12055194 FGF1 fibroblast growth factor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:735698 D RGD:9068941 20200609 RGD Rat model using human FGF1 PMID:16635575|REF_RGD_ID:5509881 12055194 FGF1 fibroblast growth factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12055194 FGF1 fibroblast growth factor 1 gene DOID:9004657 Weight Gain ISO RGD:735698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12055194 FGF1 fibroblast growth factor 1 gene DOID:9006024 Hypotension ISO RGD:735698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9233905 12055194 FGF1 fibroblast growth factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735698 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12055194 FGF1 fibroblast growth factor 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:735698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12055194 FGF1 fibroblast growth factor 1 gene DOID:9296 cleft lip ISO RGD:735698 D RGD:9068941 20200609 RGD DNA:SNP: :rs34010 (human) PMID:24613087|REF_RGD_ID:11567264 12055209 CHIC1 cysteine rich hydrophobic domain 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12055209 CHIC1 cysteine rich hydrophobic domain 1 gene DOID:0080600 COVID-19 ISO RGD:1349014 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12055209 CHIC1 cysteine rich hydrophobic domain 1 gene DOID:10283 prostate cancer ISO RGD:1349014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12055209 CHIC1 cysteine rich hydrophobic domain 1 gene DOID:12849 autistic disorder ISO RGD:1349014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12055209 CHIC1 cysteine rich hydrophobic domain 1 gene DOID:630 genetic disease ISO RGD:1349014 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12055229 FN3K fructosamine 3 kinase gene DOID:630 genetic disease ISO RGD:1350348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12055230 GPN2 GPN-loop GTPase 2 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1603309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12055230 GPN2 GPN-loop GTPase 2 gene DOID:630 genetic disease ISO RGD:1603309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12055239 DAB1 DAB adaptor protein 1 gene DOID:0050952 spastic ataxia ISO RGD:1353804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 12055239 DAB1 DAB adaptor protein 1 gene DOID:0050984 spinocerebellar ataxia type 37 ISO RGD:1353804 D RGD:7240710 20190315 OMIM 12055239 DAB1 DAB adaptor protein 1 gene DOID:0050984 spinocerebellar ataxia type 37 ISO RGD:1353804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 37 PMID:23700170|PMID:25741868|PMID:28686858|PMID:29939198 12055239 DAB1 DAB adaptor protein 1 gene DOID:0060673 Peters anomaly ISO RGD:1353804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459 12055239 DAB1 DAB adaptor protein 1 gene DOID:12849 autistic disorder ISO RGD:1353804 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15820235 12055239 DAB1 DAB adaptor protein 1 gene DOID:12849 autistic disorder ISO RGD:1353804 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebellum, Brodmann area 9 (human) PMID:15820235|REF_RGD_ID:2317973 12055239 DAB1 DAB adaptor protein 1 gene DOID:1824 status epilepticus ISO RGD:628770 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus (rat) PMID:17314278|REF_RGD_ID:2317783 12055239 DAB1 DAB adaptor protein 1 gene DOID:630 genetic disease ISO RGD:1353804 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12055267 GOSR2 golgi SNAP receptor complex member 2 gene DOID:0060224 atrial fibrillation ISO RGD:731739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12055267 GOSR2 golgi SNAP receptor complex member 2 gene DOID:0111449 progressive myoclonus epilepsy 6 ISO RGD:731739 D RGD:7240710 20180130 OMIM 12055267 GOSR2 golgi SNAP receptor complex member 2 gene DOID:0111449 progressive myoclonus epilepsy 6 ISO RGD:731739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 PMID:16199547|PMID:19057520|PMID:21549339|PMID:23449775|PMID:24458321|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28982678|PMID:29855340|PMID:33639315|PMID:34167170 12055267 GOSR2 golgi SNAP receptor complex member 2 gene DOID:630 genetic disease ISO RGD:731739 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:19057520|PMID:21549339|PMID:23449775|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 12055267 GOSR2 golgi SNAP receptor complex member 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:731739 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:16199547|PMID:17576681|PMID:19057520|PMID:21549339|PMID:23449775|PMID:24458321|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29855340|PMID:33639315|PMID:9536098 12055267 GOSR2 golgi SNAP receptor complex member 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:731739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:16199547|PMID:17576681|PMID:19057520|PMID:21549339|PMID:23449775|PMID:24458321|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28982678|PMID:29855340|PMID:30363482|PMID:33639315|PMID:9536098 12055267 GOSR2 golgi SNAP receptor complex member 2 gene DOID:9003754 MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES ISO RGD:731739 D RGD:7240710 20230301 OMIM 12055267 GOSR2 golgi SNAP receptor complex member 2 gene DOID:9003754 MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES ISO RGD:731739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, congenital, with or without seizures PMID:16199547|PMID:21549339|PMID:23449775|PMID:24458321|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28982678|PMID:29855340|PMID:33639315|PMID:34167170 12055267 GOSR2 golgi SNAP receptor complex member 2 gene DOID:9884 muscular dystrophy ISO RGD:731739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:21549339|PMID:23449775|PMID:24458321|PMID:25741868|PMID:28492532|PMID:28982678|PMID:29855340|PMID:33639315 12055287 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1347443 D RGD:9068941 20221028 RGD mRNA:increased expression:colorectum (human) PMID:11358845|REF_RGD_ID:155631271 12055287 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1347443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 12055287 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:0111807 syndromic microphthalmia 9 ISO RGD:1347443 D RGD:7240710 20200527 OMIM 12055287 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:0111807 syndromic microphthalmia 9 ISO RGD:1347443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Matthew-Wood syndrome | ClinVar Annotator: match by term: Microphthalmia syndromic 9 PMID:11857549|PMID:16199547|PMID:17273977|PMID:17503335|PMID:19213032|PMID:19309693|PMID:19839040|PMID:22283518|PMID:22686418|PMID:25044680|PMID:25741868|PMID:26373900|PMID:28492532|PMID:30639323 12055287 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:1059 intellectual disability ISO RGD:1347443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17273977 12055287 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:10629 microphthalmia ISO RGD:1347443 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25741868 12055287 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1347443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17273977 12055287 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:13641 exfoliation syndrome ISO RGD:1347443 D RGD:9068941 20221103 RGD mRNA:decreased expression:iris, retina (human) PMID:30986821|REF_RGD_ID:155631292 12055287 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:1682 congenital heart disease ISO RGD:1347443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17273977 12055287 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1347443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12055287 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:2717 Bloom syndrome ISO RGD:1347443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12055287 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:5419 schizophrenia ISO RGD:1347443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12055287 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:630 genetic disease ISO RGD:1347443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12055287 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:850 lung disease ISO RGD:1347443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17273977 12055287 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:8947 diabetic retinopathy treatment ISO RGD:1332061 D RGD:9068941 20221103 RGD associated with type 2 diabetes mellitus PMID:30096827|REF_RGD_ID:155631301 12055287 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:9002049 Anophthalmia ISO RGD:1347443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17273977 12055287 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:9002049 Anophthalmia ISO RGD:1347443 D RGD:9068941 20221103 RGD DNA:frameshift mutation, missense mutations:CDS:multiple (human) PMID:17273977|REF_RGD_ID:155631287 12055287 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:9002642 Isolated Microphthalmia with Coloboma ISO RGD:1347443 D RGD:9068941 20221103 RGD DNA:missense mutation:CDS:p.G204K (human) PMID:21901792|REF_RGD_ID:155631284 12055287 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1347443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316031 12055287 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307551 D RGD:9068941 20221103 RGD protein:decreased expression:optic cup (rat) PMID:28734946|REF_RGD_ID:155631297 12055287 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1347443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316031 12055287 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:1347443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17273977 12055287 STRA6 signaling receptor and transporter of retinol STRA6 gene DOID:9256 colorectal cancer ISO RGD:1347443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12055330 TASL TLR adaptor interacting with endolysosomal SLC15A4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12055330 TASL TLR adaptor interacting with endolysosomal SLC15A4 gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1347440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 12055330 TASL TLR adaptor interacting with endolysosomal SLC15A4 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1347440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 12055330 TASL TLR adaptor interacting with endolysosomal SLC15A4 gene DOID:12849 autistic disorder ISO RGD:1347440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12055330 TASL TLR adaptor interacting with endolysosomal SLC15A4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12055330 TASL TLR adaptor interacting with endolysosomal SLC15A4 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1347440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 12055344 GJD3 gap junction protein delta 3 gene DOID:630 genetic disease ISO RGD:1319005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12055344 GJD3 gap junction protein delta 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1308942 D RGD:9068941 20200609 RGD protein:decreased expression:retina: PMID:23385797|REF_RGD_ID:7364769 12055352 PRR32 proline rich 32 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:2299192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12055352 PRR32 proline rich 32 gene DOID:1056 oculocerebrorenal syndrome ISO RGD:2299192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:17142121 12055352 PRR32 proline rich 32 gene DOID:12849 autistic disorder ISO RGD:2299192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12055352 PRR32 proline rich 32 gene DOID:630 genetic disease ISO RGD:2299192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12055360 OR10S1 olfactory receptor family 10 subfamily S member 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1349590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12055360 OR10S1 olfactory receptor family 10 subfamily S member 1 gene DOID:5419 schizophrenia ISO RGD:1349590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12055360 OR10S1 olfactory receptor family 10 subfamily S member 1 gene DOID:630 genetic disease ISO RGD:1349590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12055360 OR10S1 olfactory receptor family 10 subfamily S member 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12055360 OR10S1 olfactory receptor family 10 subfamily S member 1 gene DOID:9007661 Dwarfism ISO RGD:1349590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12055364 LOC100688777 Bardet-Biedl syndrome 10 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1605944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:16582908|PMID:17106446|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21642631|PMID:22773737|PMID:23591405|PMID:24033266|PMID:24400638|PMID:24746959|PMID:25366773|PMID:25741868|PMID:25982971|PMID:26467025|PMID:27385962|PMID:27449316|PMID:27486776|PMID:28041643|PMID:28492532|PMID:30614526|PMID:30718709|PMID:31196119 12055364 LOC100688777 Bardet-Biedl syndrome 10 gene DOID:0110132 Bardet-Biedl syndrome 10 ISO RGD:1605944 D RGD:7240710 20180130 OMIM 12055364 LOC100688777 Bardet-Biedl syndrome 10 gene DOID:0110132 Bardet-Biedl syndrome 10 ISO RGD:1605944 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 | ClinVar Annotator: match by term: Bardet-biedl syndrome 1/10, digenic PMID:16582908|PMID:16823392|PMID:17106446|PMID:17576681|PMID:17980398|PMID:19190184|PMID:19797195|PMID:20080638|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21157496|PMID:21209035|PMID:21344540|PMID:21463199|PMID:21517826|PMID:21642631|PMID:22353939|PMID:22410627|PMID:22773737|PMID:22958920|PMID:22995991|PMID:23591405|PMID:24033266|PMID:24041679|PMID:24400638|PMID:24488770|PMID:24611592|PMID:24746959|PMID:25133751|PMID:25170860|PMID:25326635|PMID:25366773|PMID:25412400|PMID:25741868|PMID:25966130|PMID:25982971|PMID:25988237|PMID:26003401|PMID:26273430|PMID:26467025|PMID:26518167|PMID:27032803|PMID:27245532|PMID:27385962|PMID:27449316|PMID:27486776|PMID:27533158|PMID:27659767|PMID:27788217|PMID:27959697|PMID:28041643|PMID:28143435|PMID:28492532|PMID:28808579|PMID:29261186|PMID:29806606|PMID:30335236|PMID:30408610|PMID:30614526|PMID:30718709|PMID:31196119|PMID:31639430|PMID:32448990|PMID:32531858|PMID:33964006|PMID:34940782|PMID:9536098 12055364 LOC100688777 Bardet-Biedl syndrome 10 gene DOID:10584 retinitis pigmentosa ISO RGD:1605944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16582908|PMID:20120035|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21642631|PMID:24400638|PMID:24746959|PMID:25741868|PMID:26467025|PMID:27385962|PMID:28041643|PMID:28492532|PMID:30614526|PMID:30718709 12055364 LOC100688777 Bardet-Biedl syndrome 10 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605944 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16582908|PMID:16823392|PMID:17106446|PMID:17576681|PMID:17980398|PMID:19190184|PMID:19797195|PMID:20080638|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21157496|PMID:21209035|PMID:21344540|PMID:21517826|PMID:21642631|PMID:22353939|PMID:22410627|PMID:22773737|PMID:22958920|PMID:22995991|PMID:23591405|PMID:24033266|PMID:24041679|PMID:24400638|PMID:24488770|PMID:24611592|PMID:24746959|PMID:25133751|PMID:25170860|PMID:25326635|PMID:25366773|PMID:25412400|PMID:25439097|PMID:25741868|PMID:25966130|PMID:25982971|PMID:26003401|PMID:26273430|PMID:26467025|PMID:26518167|PMID:27032803|PMID:27245532|PMID:27385962|PMID:27449316|PMID:27486776|PMID:27533158|PMID:27659767|PMID:27788217|PMID:27959697|PMID:28041643|PMID:28143435|PMID:28492532|PMID:28808579|PMID:28991257|PMID:29261186|PMID:29806606|PMID:29947050|PMID:30335236|PMID:30614526|PMID:30718709|PMID:31196119|PMID:31639430|PMID:32361989|PMID:32448990|PMID:32531858|PMID:33964006|PMID:34940782|PMID:5982971|PMID:9536098 12055364 LOC100688777 Bardet-Biedl syndrome 10 gene DOID:630 genetic disease ISO RGD:1605944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12083524|PMID:16582908|PMID:17576681|PMID:20080638|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21517826|PMID:21642631|PMID:22410627|PMID:24400638|PMID:24746959|PMID:25741868|PMID:25982971|PMID:26467025|PMID:27385962|PMID:28041643|PMID:28492532|PMID:30335236|PMID:30614526|PMID:30718709|PMID:8861908|PMID:9536098 12055364 LOC100688777 Bardet-Biedl syndrome 10 gene DOID:8501 fundus dystrophy ISO RGD:1605944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16582908|PMID:20080638|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21157496|PMID:21209035|PMID:21344540|PMID:21517826|PMID:21642631|PMID:22410627|PMID:22773737|PMID:24033266|PMID:24400638|PMID:24746959|PMID:25741868|PMID:25982971|PMID:26003401|PMID:26467025|PMID:27385962|PMID:27486776|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28143435|PMID:28492532|PMID:28808579|PMID:30614526|PMID:30718709 12055364 LOC100688777 Bardet-Biedl syndrome 10 gene DOID:9001069 Bardet-Biedl Syndrome 6/10, Digenic ISO RGD:1605944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-biedl syndrome 6/10, digenic PMID:16582908|PMID:20120035|PMID:20805367|PMID:20876674|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21642631|PMID:24400638|PMID:24746959|PMID:25741868|PMID:26467025|PMID:27385962|PMID:28041643|PMID:28492532|PMID:30614526|PMID:30718709 12055399 TEX56P testis expressed 56, pseudogene gene DOID:630 genetic disease ISO RGD:1354340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12055418 SDR42E2 short chain dehydrogenase/reductase family 42E, member 2 gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:5688458 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5 PMID:25741868 12055418 SDR42E2 short chain dehydrogenase/reductase family 42E, member 2 gene DOID:12849 autistic disorder ISO RGD:5688458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12055418 SDR42E2 short chain dehydrogenase/reductase family 42E, member 2 gene DOID:5419 schizophrenia ISO RGD:5688458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12055432 MIR34B microRNA mir-34b gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1352034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 12055432 MIR34B microRNA mir-34b gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1352034 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 12055432 MIR34B microRNA mir-34b gene DOID:1059 intellectual disability ISO RGD:1352034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12055432 MIR34B microRNA mir-34b gene DOID:11054 urinary bladder cancer ISO RGD:1352034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 12055432 MIR34B microRNA mir-34b gene DOID:12704 ataxia telangiectasia ISO RGD:1352034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12055432 MIR34B microRNA mir-34b gene DOID:14330 Parkinson's disease ISO RGD:1352034 D RGD:9068941 20200609 RGD PMID:21558425|REF_RGD_ID:10755477 12055432 MIR34B microRNA mir-34b gene DOID:2671 transitional cell carcinoma ISO RGD:1352034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 12055432 MIR34B microRNA mir-34b gene DOID:9000918 Disease Progression ISO RGD:1352034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 12055432 MIR34B microRNA mir-34b gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 12055432 MIR34B microRNA mir-34b gene DOID:9002170 Experimental Neoplasms ISO RGD:1352034 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22113133 12055432 MIR34B microRNA mir-34b gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1352034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12055432 MIR34B microRNA mir-34b gene DOID:9005172 Lung Neoplasms ISO RGD:1352034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21339737|PMID:25105010 12055432 MIR34B microRNA mir-34b gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1352034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21339737 12055432 MIR34B microRNA mir-34b gene DOID:9007787 Carcinoid Tumor ISO RGD:1352034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12055432 MIR34B microRNA mir-34b gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1352034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 12055435 MIR496 microRNA mir-496 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1603768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 12055435 MIR496 microRNA mir-496 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1603768 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12055543 CD38 CD38 molecule gene DOID:0050777 Joubert syndrome ISO RGD:735841 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12055543 CD38 CD38 molecule gene DOID:630 genetic disease ISO RGD:735841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12055543 CD38 CD38 molecule gene DOID:9001542 Albuminuria ISO RGD:735841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21992601 12055543 CD38 CD38 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2303 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:16343077|REF_RGD_ID:2307239 12055543 CD38 CD38 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12055543 CD38 CD38 molecule gene DOID:9002165 Diabetic Nephropathies ISO RGD:2303 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19073639|REF_RGD_ID:2307227 12055543 CD38 CD38 molecule gene DOID:9002165 Diabetic Nephropathies ISO RGD:735841 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:19300526|REF_RGD_ID:2307228 12055543 CD38 CD38 molecule gene DOID:9003936 Cardiomegaly ISO RGD:2303 D RGD:9068941 20200609 RGD PMID:18719074|REF_RGD_ID:2307236 12055543 CD38 CD38 molecule gene DOID:9007102 Myocardial Ischemia ISO RGD:2303 D RGD:9068941 20200609 RGD protein:increased activity:ventricle myocardium PMID:12111041|REF_RGD_ID:2307243 12055543 CD38 CD38 molecule gene DOID:9007102 Myocardial Ischemia ISO RGD:735841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12055543 CD38 CD38 molecule gene DOID:9352 type 2 diabetes mellitus ISO RGD:2303 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet PMID:7669044|REF_RGD_ID:2307234 12055543 CD38 CD38 molecule gene DOID:9352 type 2 diabetes mellitus ISO RGD:735841 D RGD:9068941 20200609 RGD PMID:12242463|REF_RGD_ID:2307232 12055543 CD38 CD38 molecule gene DOID:9352 type 2 diabetes mellitus ISO RGD:735841 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.R140W (human) PMID:9754820|REF_RGD_ID:2307233 12055543 CD38 CD38 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:731646 D RGD:9068941 20200609 RGD PMID:16920929|REF_RGD_ID:2307229 12055543 CD38 CD38 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:731646 D RGD:9068941 20220825 MouseDO OMIM:222100 12055543 CD38 CD38 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:735841 D RGD:9068941 20200609 RGD PMID:16459468|REF_RGD_ID:2307230 12055543 CD38 CD38 molecule gene DOID:9744 type 1 diabetes mellitus disease_progression ISO RGD:735841 D RGD:9068941 20200609 RGD PMID:12488956|REF_RGD_ID:2307231 12055566 ETAA1 ETAA1 activator of ATR kinase gene DOID:1793 pancreatic cancer ISO RGD:1604009 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098869 12055566 ETAA1 ETAA1 activator of ATR kinase gene DOID:630 genetic disease ISO RGD:1604009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12055582 PPM1G protein phosphatase, Mg2+/Mn2+ dependent 1G gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:732734 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12055582 PPM1G protein phosphatase, Mg2+/Mn2+ dependent 1G gene DOID:5419 schizophrenia ISO RGD:732735 D RGD:9068941 20220825 MouseDO OMIM:181500 12055582 PPM1G protein phosphatase, Mg2+/Mn2+ dependent 1G gene DOID:630 genetic disease ISO RGD:732734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12055600 HDLBP high density lipoprotein binding protein gene DOID:0080600 COVID-19 ISO RGD:732166 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12055600 HDLBP high density lipoprotein binding protein gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:732166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12055600 HDLBP high density lipoprotein binding protein gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:732166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12055600 HDLBP high density lipoprotein binding protein gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:732166 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12055600 HDLBP high density lipoprotein binding protein gene DOID:1059 intellectual disability ISO RGD:732166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12055600 HDLBP high density lipoprotein binding protein gene DOID:12849 autistic disorder ISO RGD:732166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19365831 12055600 HDLBP high density lipoprotein binding protein gene DOID:630 genetic disease ISO RGD:732166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12055600 HDLBP high density lipoprotein binding protein gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:732166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12055600 HDLBP high density lipoprotein binding protein gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:732166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12055600 HDLBP high density lipoprotein binding protein gene DOID:9008192 Neoplastic Processes ISO RGD:732166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25129143 12055638 ARMC3 armadillo repeat containing 3 gene DOID:630 genetic disease ISO RGD:1312695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12055638 ARMC3 armadillo repeat containing 3 gene DOID:9008973 Familial Persistent Stuttering 4 ISO RGD:1312695 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Stuttering, familial persistent, 4 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:1318463 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 | ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA PMID:11404820|PMID:14985401|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16912137|PMID:17102082|PMID:17102083|PMID:17298551|PMID:17376234|PMID:17639058|PMID:17987308|PMID:18551016|PMID:18678321|PMID:19368708|PMID:19399650|PMID:19454582|PMID:19802898|PMID:20923864|PMID:21979946|PMID:22517554|PMID:22703879|PMID:22995128|PMID:22995991|PMID:23072324|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24728327|PMID:25333069|PMID:25694510|PMID:25741868|PMID:26092435|PMID:26467025|PMID:27604842|PMID:28492532|PMID:30152102|PMID:30155846|PMID:30877234 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050771 pheochromocytoma ISO RGD:1318463 D RGD:7240710 20180130 OMIM 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050771 pheochromocytoma ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27896548|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30694796|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34072806|PMID:34309460|PMID:34439168|PMID:34906457|PMID:34939938|PMID:490809|PMID:9509062|PMID:9536098 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050773 paraganglioma ISO RGD:1318463 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma PMID:11404820|PMID:11897817|PMID:12000816|PMID:12205103|PMID:12213855|PMID:12351569|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14643060|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15883710|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16001332|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30201732|PMID:30352407|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32741965|PMID:32863293|PMID:33300499|PMID:33397040|PMID:33558524|PMID:34906457|PMID:490809|PMID:9509062|PMID:9536098 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050773 paraganglioma ISO RGD:1318463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26370861|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34439168|PMID:34906457|PMID:490809|PMID:9509062|PMID:9536098 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050773 paraganglioma ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26370861|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34072806|PMID:34439168|PMID:34906457|PMID:34939938|PMID:490809|PMID:9509062|PMID:9536098 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:0060537 mitochondrial complex II deficiency ISO RGD:1318463 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mitochondrial complex II deficiency PMID:17634472|PMID:22972948|PMID:26642834|PMID:26925370|PMID:27159321|PMID:27604842|PMID:28492532|PMID:34052969 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1318463 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Multiple hamartoma syndrome PMID:11404820|PMID:14985401|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16912137|PMID:17102082|PMID:17102083|PMID:17298551|PMID:17376234|PMID:17639058|PMID:17987308|PMID:18551016|PMID:18678321|PMID:19368708|PMID:19399650|PMID:19454582|PMID:19802898|PMID:21979946|PMID:22517554|PMID:22703879|PMID:22995128|PMID:22995991|PMID:23072324|PMID:23666964|PMID:24033266|PMID:24728327|PMID:25333069|PMID:25694510|PMID:25741868|PMID:26092435|PMID:27604842|PMID:28492532|PMID:30155846|PMID:30877234 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1318463 D RGD:7240710 20180130 OMIM 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1318463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor PMID:11404820|PMID:11897817|PMID:12362046|PMID:12364472|PMID:12618761|PMID:14500403|PMID:14715873|PMID:14985401|PMID:15328326|PMID:15383933|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:17102082|PMID:17102083|PMID:17200167|PMID:17298551|PMID:17376234|PMID:17487275|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17943698|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18840642|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19368708|PMID:19399650|PMID:19411806|PMID:19454582|PMID:19576851|PMID:19694205|PMID:19802898|PMID:19825962|PMID:20208144|PMID:20418362|PMID:20459544|PMID:20540712|PMID:20592014|PMID:20614293|PMID:20923864|PMID:21348866|PMID:21565294|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22270996|PMID:22517554|PMID:22703879|PMID:22835832|PMID:22995991|PMID:23072324|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23512077|PMID:23660872|PMID:23666964|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24466223|PMID:24509376|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24939699|PMID:25047027|PMID:25326637|PMID:25333069|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25741868|PMID:25972245|PMID:26092435|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26719882|PMID:27171833|PMID:27539324|PMID:27573198|PMID:27604842|PMID:28324028|PMID:28374168|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30152102|PMID:30201732|PMID:31492822|PMID:31666924|PMID:32741965|PMID:32963463|PMID:33300499|PMID:33362715|PMID:34439168|PMID:34906457|PMID:9509062 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:1612 breast cancer ISO RGD:1318463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:14985401|PMID:16322339|PMID:16912137|PMID:17102082|PMID:17102083|PMID:17298551|PMID:17639058|PMID:18551016|PMID:18678321|PMID:19368708|PMID:19399650|PMID:19802898|PMID:21979946|PMID:22703879|PMID:22995991|PMID:23666964|PMID:24728327|PMID:25333069|PMID:25694510|PMID:25741868|PMID:26092435|PMID:28492532 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:2394 ovarian cancer ISO RGD:1318463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:23780556|PMID:25741868|PMID:28492532 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:4450 renal cell carcinoma ISO RGD:1318463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:18728283|PMID:19576851|PMID:22835832|PMID:24055113|PMID:24092654|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28374168|PMID:28492532|PMID:30050099|PMID:34906457 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:630 genetic disease ISO RGD:1318463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14685938|PMID:15987702|PMID:17634472|PMID:28492532 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:6457 Cowden syndrome ISO RGD:1318463 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cowden syndrome | ClinVar Annotator: match by term: Cowden's syndrome PMID:11404820|PMID:14985401|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16912137|PMID:17102082|PMID:17102083|PMID:17298551|PMID:17376234|PMID:17639058|PMID:17987308|PMID:18551016|PMID:18678321|PMID:19368708|PMID:19399650|PMID:19454582|PMID:19802898|PMID:21979946|PMID:22517554|PMID:22703879|PMID:22995128|PMID:22995991|PMID:23072324|PMID:23660872|PMID:23666964|PMID:24033266|PMID:24728327|PMID:25333069|PMID:25694510|PMID:25741868|PMID:26092435|PMID:26269449|PMID:26729832|PMID:27604842|PMID:28229225|PMID:28492532|PMID:30155846|PMID:30877234|PMID:34309460 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:6741 bilateral breast cancer ISO RGD:1318463 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: bilateral breast cancer PMID:17102082|PMID:19351833|PMID:20208144|PMID:21520333|PMID:23175444|PMID:25741868|PMID:26102504|PMID:26269449|PMID:28492532|PMID:31216007|PMID:33558524 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1318463 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ataxia telangiectasia variant V1 PMID:15987702|PMID:16288654|PMID:16317055|PMID:16912137|PMID:16916404|PMID:17200167|PMID:17667967|PMID:17884808|PMID:19001511|PMID:19215943|PMID:19802898|PMID:21820839|PMID:23282968|PMID:24033266|PMID:25371406|PMID:25677497|PMID:25683602|PMID:25741868|PMID:25972245|PMID:26173966|PMID:26467025|PMID:26916530|PMID:28070496|PMID:28152038|PMID:28349240|PMID:28374168|PMID:28492532|PMID:28738844|PMID:28873162|PMID:29386252 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9002162 Carotid Body Tumor ISO RGD:1318463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carotid body tumor PMID:18728283|PMID:19576851|PMID:22835832|PMID:24055113|PMID:24092654|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28374168|PMID:28492532|PMID:30050099|PMID:34906457 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9002265 Kidney Neoplasms ISO RGD:1318463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal neoplasm PMID:19261679|PMID:22241717|PMID:25720320|PMID:25741868|PMID:28492532|PMID:30050099 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9003055 Mitochondrial Complex II Deficiency Nuclear Type 1 ISO RGD:1318463 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 PMID:17634472|PMID:22972948|PMID:26642834|PMID:26925370|PMID:27159321|PMID:27604842|PMID:28492532|PMID:34052969 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9003626 Paragangliomas 3 ISO RGD:1318463 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23666964|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25677497|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32124427|PMID:32741965|PMID:32863293|PMID:33300499|PMID:33397040|PMID:33558524|PMID:34906457|PMID:490809|PMID:9509062|PMID:9536098 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9003626 Paragangliomas 3 ISO RGD:1318463 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Paragangliomas 3 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23666964|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34439168|PMID:34906457|PMID:490809|PMID:9509062|PMID:9536098 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9003626 Paragangliomas 3 ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34072806|PMID:34439168|PMID:34906457|PMID:34939938|PMID:490809|PMID:9509062|PMID:9536098 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9004224 Mitochondrial Complex II Deficiency Nuclear Type 4 ISO RGD:1318463 D RGD:7240710 20210324 OMIM 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9004224 Mitochondrial Complex II Deficiency Nuclear Type 4 ISO RGD:1318463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4 PMID:11897817|PMID:14500403|PMID:16314641|PMID:16912137|PMID:17200167|PMID:17634472|PMID:17652212|PMID:17848412|PMID:18382370|PMID:18551016|PMID:18678321|PMID:18728283|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19368708|PMID:19454582|PMID:19576851|PMID:20208144|PMID:20592014|PMID:20614293|PMID:22703879|PMID:22835832|PMID:22972948|PMID:23083876|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24509376|PMID:24728327|PMID:24939699|PMID:25637381|PMID:25695889|PMID:25741868|PMID:26259135|PMID:26332594|PMID:26467025|PMID:26642834|PMID:26925370|PMID:27159321|PMID:27539324|PMID:27604842|PMID:28374168|PMID:28492532|PMID:30050099|PMID:32124427|PMID:34052969|PMID:34906457 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34072806|PMID:34439168|PMID:34906457|PMID:34939938|PMID:490809|PMID:9509062|PMID:9536098 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26370861|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30201732|PMID:30352407|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:34072806|PMID:34439168|PMID:34906457|PMID:34939938|PMID:490809|PMID:9509062|PMID:9536098 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1318463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:18728283|PMID:19576851|PMID:22835832|PMID:24055113|PMID:24092654|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28374168|PMID:28492532|PMID:30050099|PMID:34906457 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11404820|PMID:11897817|PMID:12000816|PMID:12205103|PMID:12213855|PMID:12351569|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14643060|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15883710|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16001332|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23407919|PMID:23512077|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23707781|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25825477|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30549360|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32124427|PMID:32659967|PMID:32741965|PMID:33300499|PMID:33558524|PMID:34906457|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23407919|PMID:23512077|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23707781|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25825477|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30549360|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32124427|PMID:32659967|PMID:32741965|PMID:33300499|PMID:33558524|PMID:34906457|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23407919|PMID:23512077|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23707781|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25677497|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25825477|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30549360|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32124427|PMID:32659967|PMID:32741965|PMID:33300499|PMID:33558524|PMID:34906457|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23407919|PMID:23512077|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23707781|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25825477|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30549360|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32124427|PMID:32659967|PMID:32741965|PMID:33300499|PMID:33558524|PMID:34309460|PMID:34906457|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33558524|PMID:34052969|PMID:34309460|PMID:34439168|PMID:34452955|PMID:34906457 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:35171114|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33558524|PMID:34052969|PMID:34309460|PMID:34439168|PMID:34452955 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:34906457|PMID:35171114|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33558524|PMID:34052969|PMID:34072806|PMID:34255389 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:34309460|PMID:34439168|PMID:34452955|PMID:34906457|PMID:34939938|PMID:35171114|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007167 Carney Triad ISO RGD:1318463 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA PMID:15987702|PMID:16288654|PMID:16317055|PMID:16912137|PMID:16916404|PMID:17200167|PMID:17667967|PMID:17884808|PMID:19001511|PMID:19215943|PMID:19802898|PMID:21820839|PMID:23282968|PMID:24033266|PMID:25371406|PMID:25683602|PMID:25741868|PMID:25972245|PMID:26173966|PMID:26467025|PMID:26916530|PMID:28070496|PMID:28152038|PMID:28349240|PMID:28374168|PMID:28492532|PMID:28738844|PMID:28873162|PMID:29386252 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9008037 Paragangliomas 4 ISO RGD:1318463 D RGD:7240710 20180130 OMIM 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9008037 Paragangliomas 4 ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Paragangliomas 4 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15531530|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18057081|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22429592|PMID:22430264|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25827221|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34072806|PMID:34439168|PMID:34906457|PMID:34939938|PMID:490809|PMID:9509062|PMID:9536098 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318463 D RGD:7240710 20180130 OMIM 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15476441|PMID:15531530|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18057081|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19029228|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763152|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20307669|PMID:20379037|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22406018|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23154831|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24859990|PMID:24939699|PMID:24977658|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25640679|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26267327|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26729832|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27896548|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28960644|PMID:28973655|PMID:29292578|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30694796|PMID:30877234 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:31046099|PMID:31104306|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34072806|PMID:34255389|PMID:34309460|PMID:34439168|PMID:34452955|PMID:34906457|PMID:34939938|PMID:35171114|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 12055679 SDHB succinate dehydrogenase complex iron sulfur subunit B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1318464 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 12055691 BACE2 beta-secretase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1350115 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:gyrus: PMID:22074738|REF_RGD_ID:13782172 12055691 BACE2 beta-secretase 2 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1350115 D RGD:9068941 20200609 RGD DNA:SNP,haplotype:exon: PMID:16023140|REF_RGD_ID:13782180 12055691 BACE2 beta-secretase 2 gene DOID:12849 autistic disorder ISO RGD:1350115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12055691 BACE2 beta-secretase 2 gene DOID:630 genetic disease ISO RGD:1350115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12055691 BACE2 beta-secretase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12055691 BACE2 beta-secretase 2 gene DOID:9255 frontotemporal dementia ISO RGD:1350115 D RGD:9068941 20200609 RGD mRNA,protein, activity:increased expression, increased activity:gyrus: PMID:22074738|REF_RGD_ID:13782172 12055691 BACE2 beta-secretase 2 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:1551409 D RGD:9068941 20200609 RGD PMID:28337562|REF_RGD_ID:13782177 12055703 HAT1 histone acetyltransferase 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1313912 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12055703 HAT1 histone acetyltransferase 1 gene DOID:630 genetic disease ISO RGD:1313912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12055703 HAT1 histone acetyltransferase 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1305716 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:17182829|REF_RGD_ID:2316578 12055723 UBFD1 ubiquitin family domain containing 1 gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1606788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 12055723 UBFD1 ubiquitin family domain containing 1 gene DOID:630 genetic disease ISO RGD:1606788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12055723 UBFD1 ubiquitin family domain containing 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:17200668|PMID:17200671|PMID:19609323|PMID:28492532 12055761 PHEX phosphate regulating endopeptidase X-linked gene DOID:0050336 hypophosphatemia ISO RGD:733664 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypophosphatemia PMID:25741868 12055761 PHEX phosphate regulating endopeptidase X-linked gene DOID:0050445 X-linked dominant hypophosphatemic rickets ISO RGD:733664 D RGD:7240710 20180130 OMIM 12055761 PHEX phosphate regulating endopeptidase X-linked gene DOID:0050445 X-linked dominant hypophosphatemic rickets ISO RGD:733664 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets | ClinVar Annotator: match by term: Vitamin D-resistant rickets, X-linked PMID:10439971|PMID:10737991|PMID:11004247|PMID:11468271|PMID:11502821|PMID:11502829|PMID:12414858|PMID:12727977|PMID:14564066|PMID:14564077|PMID:16055933|PMID:16199547|PMID:16303832|PMID:16636593|PMID:17576681|PMID:18162710|PMID:18252791|PMID:18625346|PMID:188828|PMID:19219621|PMID:19513579|PMID:21050253|PMID:21902834|PMID:21994957|PMID:22101457|PMID:22261628|PMID:22527485|PMID:22577109|PMID:22695891|PMID:23079138|PMID:23466123|PMID:24033266|PMID:24102521|PMID:24684036|PMID:24756041|PMID:24836714|PMID:24857004|PMID:24926462|PMID:25042154|PMID:25525159|PMID:25741868|PMID:25839938|PMID:2589938|PMID:26040324|PMID:26051471|PMID:26377240|PMID:26402641|PMID:26467025|PMID:26543054|PMID:26894575|PMID:27840894|PMID:28492532|PMID:28506344|PMID:28981921|PMID:29393334|PMID:29460029|PMID:29505567|PMID:29858904|PMID:30298485|PMID:30298486|PMID:30607568|PMID:30682568|PMID:30920082|PMID:31102713|PMID:31910300|PMID:32257293|PMID:32329911|PMID:33639975|PMID:33666701|PMID:3394683|PMID:34006472|PMID:34434907|PMID:34633109|PMID:34806794|PMID:35738466|PMID:36530187|PMID:36672821|PMID:7550339|PMID:9097956|PMID:9106524|PMID:9199930|PMID:9536098|PMID:9768646|PMID:9768674 12055761 PHEX phosphate regulating endopeptidase X-linked gene DOID:0050948 autosomal dominant hypophosphatemic rickets ISO RGD:733664 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets PMID:10439971|PMID:14564066|PMID:14564077|PMID:16055933|PMID:19219621|PMID:21902834|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32329911|PMID:9199930|PMID:9768674 12055761 PHEX phosphate regulating endopeptidase X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12055761 PHEX phosphate regulating endopeptidase X-linked gene DOID:10003 sensorineural hearing loss ISO RGD:11097 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:15029877|REF_RGD_ID:11556244 12055761 PHEX phosphate regulating endopeptidase X-linked gene DOID:1074 kidney failure ISO RGD:3323 D RGD:9068941 20200609 RGD mRNA:increased expression:parathroid gland,tibia: PMID:14693675|REF_RGD_ID:11556273 12055761 PHEX phosphate regulating endopeptidase X-linked gene DOID:10754 otitis media ISO RGD:11097 D RGD:9068941 20220825 MouseDO OMIM:166760 12055761 PHEX phosphate regulating endopeptidase X-linked gene DOID:12679 nephrocalcinosis ISO RGD:733664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9430241 12055761 PHEX phosphate regulating endopeptidase X-linked gene DOID:12849 autistic disorder ISO RGD:733664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12055761 PHEX phosphate regulating endopeptidase X-linked gene DOID:630 genetic disease ISO RGD:733664 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10737991|PMID:25741868|PMID:28492532 12055761 PHEX phosphate regulating endopeptidase X-linked gene DOID:9000099 Experimental Colitis ISO RGD:11097 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone: PMID:16890604|REF_RGD_ID:11556253 12055761 PHEX phosphate regulating endopeptidase X-linked gene DOID:9001197 Unilateral Deafness with Delayed Endolymphatic Hydrops ISO RGD:11097 D RGD:9068941 20200609 RGD DNA:mutation:cds: PMID:18289812|REF_RGD_ID:11556245 12055761 PHEX phosphate regulating endopeptidase X-linked gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:733664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:10737991|PMID:11004247|PMID:11468271|PMID:12414858|PMID:12727977|PMID:16199547|PMID:18162710|PMID:18625346|PMID:19219621|PMID:22261628|PMID:22695891|PMID:23466123|PMID:24684036|PMID:24836714|PMID:25031893|PMID:25741868|PMID:26040324|PMID:26467025|PMID:27840894|PMID:28492532|PMID:29460029|PMID:29505567|PMID:29707405|PMID:29858904|PMID:30298486|PMID:30607568|PMID:30682568|PMID:35738466|PMID:9097956|PMID:9106524|PMID:9199930|PMID:9768674 12055761 PHEX phosphate regulating endopeptidase X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12055761 PHEX phosphate regulating endopeptidase X-linked gene DOID:9007505 Familial Hypophosphatemic Rickets ISO RGD:733664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets PMID:11468271|PMID:12727977|PMID:18625346|PMID:24684036|PMID:25741868|PMID:28492532|PMID:29858904|PMID:9097956|PMID:9199930 12055761 PHEX phosphate regulating endopeptidase X-linked gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1962291 12055791 LY6G6F lymphocyte antigen 6 family member G6F gene DOID:0050553 JMP syndrome ISO RGD:1342827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12055791 LY6G6F lymphocyte antigen 6 family member G6F gene DOID:11372 megacolon ISO RGD:1342827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12055791 LY6G6F lymphocyte antigen 6 family member G6F gene DOID:630 genetic disease ISO RGD:1342827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12055805 ABCC10 ATP binding cassette subfamily C member 10 gene DOID:0050444 infantile Refsum disease ISO RGD:1315462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12055805 ABCC10 ATP binding cassette subfamily C member 10 gene DOID:630 genetic disease ISO RGD:1315462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12055805 ABCC10 ATP binding cassette subfamily C member 10 gene DOID:9002801 Recurrence ISO RGD:1315462 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 12055805 ABCC10 ATP binding cassette subfamily C member 10 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1315462 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 12055805 ABCC10 ATP binding cassette subfamily C member 10 gene DOID:905 Zellweger syndrome ISO RGD:1315462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12055840 HS3ST5 heparan sulfate-glucosamine 3-sulfotransferase 5 gene DOID:0060163 body dysmorphic disorder ISO RGD:1314962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 12055840 HS3ST5 heparan sulfate-glucosamine 3-sulfotransferase 5 gene DOID:1909 melanoma ISO RGD:1314962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12055840 HS3ST5 heparan sulfate-glucosamine 3-sulfotransferase 5 gene DOID:630 genetic disease ISO RGD:1314962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12055864 COL22A1 collagen type XXII alpha 1 chain gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:1319222 D RGD:9068941 20200609 RGD DNA:SNPs:cds:multiple(human) PMID:30541770|REF_RGD_ID:13831344 12055864 COL22A1 collagen type XXII alpha 1 chain gene DOID:5409 lung small cell carcinoma ISO RGD:1319222 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 12055864 COL22A1 collagen type XXII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1319222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:0080016 spina bifida susceptibility ISO RGD:1606343 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.D148E (human) PMID:15887293|REF_RGD_ID:2315675 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:1606343 D RGD:9068941 20200609 RGD PMID:19041121|REF_RGD_ID:2315660 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:114 heart disease ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22262564 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:11832 visual epilepsy ISO RGD:2126 D RGD:9068941 20200609 RGD protein:increased expression:neuron PMID:15854596|REF_RGD_ID:2302852 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:1380 endometrial cancer ISO RGD:1606343 D RGD:9068941 20200609 RGD DNA:nonsense mutation, missense mutations: :p.W188X, p.P112L, p.R237C (human) PMID:11465542|REF_RGD_ID:2315878 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1606343 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.D148E (human) PMID:18701435|REF_RGD_ID:2315661 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:1824 status epilepticus ISO RGD:2126 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:11852039|REF_RGD_ID:1599366 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:1909 melanoma ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16373707 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:2316 brain ischemia ISO RGD:2126 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus CA1, neuron PMID:9030714|REF_RGD_ID:2315686 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:2394 ovarian cancer ISO RGD:1606343 D RGD:9068941 20200609 RGD PMID:17974506|PMID:19787261|REF_RGD_ID:2315656|REF_RGD_ID:2315663 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:2893 cervix carcinoma ISO RGD:1606343 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:19202550|REF_RGD_ID:2315691 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1606343 D RGD:9068941 20200609 RGD protein:altered localization:cytoplasm PMID:11748448|REF_RGD_ID:2315667 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:4362 cervical cancer ISO RGD:1606343 D RGD:9068941 20200609 RGD PMID:19292061|REF_RGD_ID:2315657 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:4362 cervical cancer ISO RGD:1606343 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.D148E (human) PMID:18503157|REF_RGD_ID:2315662 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1606343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:630 genetic disease ISO RGD:1606343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25109342 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2126 D RGD:9068941 20220714 RGD PMID:33841550|REF_RGD_ID:152998960 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:850 lung disease ISO RGD:2126 D RGD:9068941 20200609 RGD PMID:17280489|REF_RGD_ID:2315673 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:1606343 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:prostate, cytoplasm PMID:11309329|REF_RGD_ID:2315666 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2126 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:18637713|REF_RGD_ID:2315670 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036326 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9000918 Disease Progression ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9000998 Brain Injuries ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11447995 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16406883|PMID:29541389 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606343 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:prostate, cytoplasm PMID:11309329|REF_RGD_ID:2315666 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9002304 Prostatic Neoplasms susceptibility ISO RGD:1606343 D RGD:9068941 20200609 RGD PMID:16406883|REF_RGD_ID:2315665 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:2126 D RGD:9068941 20200609 RGD PMID:15344903|REF_RGD_ID:2315676 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2126 D RGD:9068941 20200609 RGD protein:increased expression:placenta PMID:18373555|REF_RGD_ID:2315671 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9006205 Animal Disease Models ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22245109 12055936 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2126 D RGD:9068941 20200609 RGD protein:altered localization:cytoplasm PMID:17602955|REF_RGD_ID:2315672 12055945 SMTNL1 smoothelin like 1 gene DOID:1059 intellectual disability ISO RGD:1601815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12055945 SMTNL1 smoothelin like 1 gene DOID:630 genetic disease ISO RGD:1601815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12055957 AGTPBP1 ATP/GTP binding carboxypeptidase 1 gene DOID:630 genetic disease ISO RGD:1314853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12055957 AGTPBP1 ATP/GTP binding carboxypeptidase 1 gene DOID:9000084 Childhood-Onset Neurodegeneration with Cerebellar Atrophy ISO RGD:1314853 D RGD:7240710 20190501 OMIM 12055957 AGTPBP1 ATP/GTP binding carboxypeptidase 1 gene DOID:9000084 Childhood-Onset Neurodegeneration with Cerebellar Atrophy ISO RGD:1314853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with cerebellar atrophy PMID:25741868|PMID:30420557|PMID:33624935 12055957 AGTPBP1 ATP/GTP binding carboxypeptidase 1 gene DOID:9002955 Nerve Degeneration ISO RGD:1314853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16952463 12055957 AGTPBP1 ATP/GTP binding carboxypeptidase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1314853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12055957 AGTPBP1 ATP/GTP binding carboxypeptidase 1 gene DOID:9009220 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES ISO RGD:1314853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures PMID:25741868|PMID:30420557 12055991 NUP62 nucleoporin 62 gene DOID:12236 primary biliary cholangitis severity ISO RGD:1349933 D RGD:9068941 20200609 RGD PMID:12753810|REF_RGD_ID:9831196 12055991 NUP62 nucleoporin 62 gene DOID:630 genetic disease ISO RGD:1349933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12055991 NUP62 nucleoporin 62 gene DOID:9008334 Striatonigral Degeneration, Infantile ISO RGD:1349933 D RGD:7240710 20180130 OMIM 12055991 NUP62 nucleoporin 62 gene DOID:9008334 Striatonigral Degeneration, Infantile ISO RGD:1349933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile bilateral striatal necrosis | ClinVar Annotator: match by term: Striatal degeneration familial PMID:16786527|PMID:25741868|PMID:28492532 12056003 R3HCC1L R3H domain and coiled-coil containing 1 like gene DOID:630 genetic disease ISO RGD:1317417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056023 PSD pleckstrin and Sec7 domain containing gene DOID:630 genetic disease ISO RGD:733797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056061 CHSY1 chondroitin sulfate synthase 1 gene DOID:0050814 temtamy preaxial brachydactyly syndrome ISO RGD:1323606 D RGD:7240710 20180130 OMIM 12056061 CHSY1 chondroitin sulfate synthase 1 gene DOID:0050814 temtamy preaxial brachydactyly syndrome ISO RGD:1323606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome PMID:19952732|PMID:21129727|PMID:21129728|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9823490 12056061 CHSY1 chondroitin sulfate synthase 1 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1323606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 12056061 CHSY1 chondroitin sulfate synthase 1 gene DOID:630 genetic disease ISO RGD:1323606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21129728|PMID:25741868|PMID:26467025|PMID:28492532 12056061 CHSY1 chondroitin sulfate synthase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12056061 CHSY1 chondroitin sulfate synthase 1 gene DOID:9004538 Hearing Loss ISO RGD:1323606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30872814 12056068 UBASH3B ubiquitin associated and SH3 domain containing B gene DOID:5419 schizophrenia ISO RGD:1605914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12056068 UBASH3B ubiquitin associated and SH3 domain containing B gene DOID:630 genetic disease ISO RGD:1605914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056068 UBASH3B ubiquitin associated and SH3 domain containing B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12056068 UBASH3B ubiquitin associated and SH3 domain containing B gene DOID:9007661 Dwarfism ISO RGD:1605914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12056086 KCNC4 potassium voltage-gated channel subfamily C member 4 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1348258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 12056086 KCNC4 potassium voltage-gated channel subfamily C member 4 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1348258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12056086 KCNC4 potassium voltage-gated channel subfamily C member 4 gene DOID:10652 Alzheimer's disease ISO RGD:1348258 D RGD:9068941 20200609 RGD mRNA, protein:increased expression: frontal cortex PMID:15485486|REF_RGD_ID:10411900 12056086 KCNC4 potassium voltage-gated channel subfamily C member 4 gene DOID:10652 Alzheimer's disease ISO RGD:1616662 D RGD:9068941 20200609 RGD mRNA:decreased expression:neocortex (mouse) PMID:21912965|REF_RGD_ID:9686062 12056086 KCNC4 potassium voltage-gated channel subfamily C member 4 gene DOID:11446 sciatic neuropathy ISO RGD:1589169 D RGD:9068941 20200609 RGD PMID:17855600|REF_RGD_ID:10411908 12056086 KCNC4 potassium voltage-gated channel subfamily C member 4 gene DOID:12849 autistic disorder ISO RGD:1348258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12056086 KCNC4 potassium voltage-gated channel subfamily C member 4 gene DOID:1824 status epilepticus ISO RGD:1589169 D RGD:9068941 20200609 RGD PMID:20971086|REF_RGD_ID:10411905 12056086 KCNC4 potassium voltage-gated channel subfamily C member 4 gene DOID:1824 status epilepticus ISO RGD:1589169 D RGD:9068941 20200609 RGD mRNA:decreased expression:subiculum, perirhinal cortex, entorhinal cortex (rat) PMID:17942314|REF_RGD_ID:9686050 12056086 KCNC4 potassium voltage-gated channel subfamily C member 4 gene DOID:3328 temporal lobe epilepsy ISO RGD:1348258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20971086 12056086 KCNC4 potassium voltage-gated channel subfamily C member 4 gene DOID:630 genetic disease ISO RGD:1348258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056086 KCNC4 potassium voltage-gated channel subfamily C member 4 gene DOID:9002211 Hyperalgesia ISO RGD:1589169 D RGD:9068941 20200609 RGD PMID:17855600|REF_RGD_ID:10411908 12056103 DNAAF5 dynein axonemal assembly factor 5 gene DOID:0110604 primary ciliary dyskinesia 18 ISO RGD:1606283 D RGD:7240710 20190315 OMIM 12056103 DNAAF5 dynein axonemal assembly factor 5 gene DOID:0110604 primary ciliary dyskinesia 18 ISO RGD:1606283 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 18 PMID:20301301|PMID:23040496|PMID:24033266|PMID:24307375|PMID:25232951|PMID:25741868|PMID:28492532|PMID:29358401|PMID:29363216 12056103 DNAAF5 dynein axonemal assembly factor 5 gene DOID:5419 schizophrenia ISO RGD:1606283 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12056103 DNAAF5 dynein axonemal assembly factor 5 gene DOID:630 genetic disease ISO RGD:1606283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12056103 DNAAF5 dynein axonemal assembly factor 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1606283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:20301301|PMID:23040496|PMID:24033266|PMID:24307375|PMID:25232951|PMID:25741868|PMID:28492532|PMID:29358401|PMID:29363216|PMID:9536098 12056120 DHX33 DEAH-box helicase 33 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1316314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 12056120 DHX33 DEAH-box helicase 33 gene DOID:630 genetic disease ISO RGD:1316314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056135 RPL32 ribosomal protein L32 gene DOID:0111947 immunodeficiency 21 ISO RGD:1602666 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12056135 RPL32 ribosomal protein L32 gene DOID:630 genetic disease ISO RGD:1602666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056135 RPL32 ribosomal protein L32 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1602666 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 12056135 RPL32 ribosomal protein L32 gene DOID:9270 alkaptonuria ISO RGD:1602666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12056143 SAMD12 sterile alpha motif domain containing 12 gene DOID:0111690 familial adult myoclonic epilepsy 1 ISO RGD:1344782 D RGD:7240710 20190315 OMIM 12056143 SAMD12 sterile alpha motif domain containing 12 gene DOID:0111690 familial adult myoclonic epilepsy 1 ISO RGD:1344782 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 1 12056143 SAMD12 sterile alpha motif domain containing 12 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1344782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12056143 SAMD12 sterile alpha motif domain containing 12 gene DOID:206 hereditary multiple exostoses ISO RGD:1344782 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 12056143 SAMD12 sterile alpha motif domain containing 12 gene DOID:630 genetic disease ISO RGD:1344782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056143 SAMD12 sterile alpha motif domain containing 12 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1344782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29507423 12056165 FXN frataxin gene DOID:0111218 Friedreich ataxia 1 ISO RGD:1604403 D RGD:7240710 20180130 OMIM 12056165 FXN frataxin gene DOID:0111218 Friedreich ataxia 1 ISO RGD:1604403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Friedreich ataxia 1 PMID:25741868|PMID:26467025|PMID:34906502 12056165 FXN frataxin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1604403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:15936968|PMID:25741868 12056165 FXN frataxin gene DOID:12705 Friedreich ataxia ISO RGD:1604403 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Friedreich ataxia PMID:10543403|PMID:10732799|PMID:11020385|PMID:11030757|PMID:11843702|PMID:12019217|PMID:17331979|PMID:17703324|PMID:18537827|PMID:19494730|PMID:19629184|PMID:19775837|PMID:20162437|PMID:21298097|PMID:25566998|PMID:25741868|PMID:26301374|PMID:26339677|PMID:26467025|PMID:26704351|PMID:28812047|PMID:31980526|PMID:34747814|PMID:8596916|PMID:9090376|PMID:9150176|PMID:9700204|PMID:9737785|PMID:9989622 12056165 FXN frataxin gene DOID:630 genetic disease ISO RGD:1604403 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15936968|PMID:19852779|PMID:25741868|PMID:26467025|PMID:28492532 12056165 FXN frataxin gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1604403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26954031 12056165 FXN frataxin gene DOID:9007692 Insulin Resistance ISO RGD:1604403 D RGD:9068941 20200609 RGD DNA:repeats:intron:GAA (human) PMID:10969848|REF_RGD_ID:2307049 12056165 FXN frataxin gene DOID:9351 diabetes mellitus ISO RGD:1551716 D RGD:9068941 20200609 RGD DNA:deletion:exon (mouse) PMID:12925693|REF_RGD_ID:2307048 12056165 FXN frataxin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604403 D RGD:9068941 20200609 RGD DNA:repeats:intron:GAA (human) PMID:9588463|REF_RGD_ID:2307050 12056165 FXN frataxin gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1604403 D RGD:9068941 20200609 RGD DNA:repeats:intron:GAA (human) PMID:10102715|REF_RGD_ID:2307051 12056165 FXN frataxin gene DOID:9970 obesity ISO RGD:1551716 D RGD:9068941 20200609 RGD DNA:deletion:exon (mouse) PMID:17404227|REF_RGD_ID:2307045 12056174 ASPN asporin gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1345823 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 12056174 ASPN asporin gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1345823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 12056174 ASPN asporin gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1345823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 12056174 ASPN asporin gene DOID:630 genetic disease ISO RGD:1345823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056174 ASPN asporin gene DOID:7147 ankylosing spondylitis susceptibility ISO RGD:1345823 D RGD:9068941 20200609 RGD DNA:repeats:exon: PMID:20144272|REF_RGD_ID:9684964 12056174 ASPN asporin gene DOID:8398 osteoarthritis ISO RGD:1345823 D RGD:7240710 20230505 OMIM 12056174 ASPN asporin gene DOID:8398 osteoarthritis no_association ISO RGD:1345823 D RGD:9068941 20200609 RGD DNA:repeats:exon: PMID:16542493|REF_RGD_ID:9684966 12056174 ASPN asporin gene DOID:90 degenerative disc disease severity ISO RGD:1345823 D RGD:9068941 20200609 RGD mRNA:increased expression:intervertebral disk: PMID:19327154|REF_RGD_ID:9684961 12056174 ASPN asporin gene DOID:90 degenerative disc disease susceptibility ISO RGD:1345823 D RGD:9068941 20200609 RGD DNA:repeats:exon: PMID:18304494|REF_RGD_ID:9684970 12056174 ASPN asporin gene DOID:9000058 Keloid ISO RGD:1345823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12056174 ASPN asporin gene DOID:9000585 Intervertebral Disc Disease ISO RGD:1345823 D RGD:7240710 20230505 OMIM 12056174 ASPN asporin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12056174 ASPN asporin gene DOID:9002331 Knee Osteoarthritis ISO RGD:1345823 D RGD:9068941 20200609 RGD mRNA:increased expression:cartilage: PMID:15640800|REF_RGD_ID:9684965 12056174 ASPN asporin gene DOID:9002331 Knee Osteoarthritis severity ISO RGD:1345823 D RGD:9068941 20200609 RGD DNA:repeats:exon: PMID:15640800|REF_RGD_ID:9684965 12056174 ASPN asporin gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1345823 D RGD:9068941 20200609 RGD DNA:repeats:exon: PMID:15640800|REF_RGD_ID:9684965 12056174 ASPN asporin gene DOID:9007078 Hip Dislocation susceptibility ISO RGD:1345823 D RGD:9068941 20200609 RGD DNA:repeats:exon: PMID:21329514|REF_RGD_ID:9684968 12056186 PLSCR4 phospholipid scramblase 4 gene DOID:10003 sensorineural hearing loss ISO RGD:1323284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 12056186 PLSCR4 phospholipid scramblase 4 gene DOID:5409 lung small cell carcinoma ISO RGD:1323284 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 12056186 PLSCR4 phospholipid scramblase 4 gene DOID:630 genetic disease ISO RGD:1323284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056203 C26H12orf43 chromosome 26 C12orf43 homolog gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1603965 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10588527|PMID:23348805|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31517624|PMID:32238361|PMID:32395877|PMID:35328643|PMID:35673428|PMID:9626139 12056203 C26H12orf43 chromosome 26 C12orf43 homolog gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1603965 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25057215 12056203 C26H12orf43 chromosome 26 C12orf43 homolog gene DOID:0111102 maturity-onset diabetes of the young type 3 ISO RGD:1603965 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3 PMID:10333057|PMID:10482964|PMID:10588527|PMID:12488962|PMID:12530534|PMID:23348805|PMID:24728327|PMID:25057215|PMID:25414397|PMID:25741868|PMID:26287533|PMID:26467025|PMID:28492532|PMID:31517624|PMID:32238361|PMID:32395877|PMID:35299962|PMID:35328643|PMID:35673428|PMID:36257325|PMID:9075818|PMID:9562352|PMID:9626139 12056203 C26H12orf43 chromosome 26 C12orf43 homolog gene DOID:11714 gestational diabetes ISO RGD:1603965 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gestational diabetes PMID:35299962|PMID:9562352 12056203 C26H12orf43 chromosome 26 C12orf43 homolog gene DOID:2394 ovarian cancer ISO RGD:1603965 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:10588527|PMID:23348805|PMID:24728327|PMID:25741868|PMID:26467025|PMID:32238361 12056203 C26H12orf43 chromosome 26 C12orf43 homolog gene DOID:630 genetic disease ISO RGD:1603965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056203 C26H12orf43 chromosome 26 C12orf43 homolog gene DOID:9000149 Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive ISO RGD:1603965 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive PMID:30561130 12056203 C26H12orf43 chromosome 26 C12orf43 homolog gene DOID:9351 diabetes mellitus ISO RGD:1603965 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10333057|PMID:10482964|PMID:12488962|PMID:12530534|PMID:24728327|PMID:25414397|PMID:25741868|PMID:26287533|PMID:30561130|PMID:31517624|PMID:32395877|PMID:35328643|PMID:35673428|PMID:36257325|PMID:9075818 12056203 C26H12orf43 chromosome 26 C12orf43 homolog gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603965 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25057215 12056203 C26H12orf43 chromosome 26 C12orf43 homolog gene DOID:9744 type 1 diabetes mellitus ISO RGD:1603965 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 1 PMID:25741868 12056219 AHCYL1 adenosylhomocysteinase like 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1320280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12056219 AHCYL1 adenosylhomocysteinase like 1 gene DOID:12849 autistic disorder ISO RGD:1320280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12056219 AHCYL1 adenosylhomocysteinase like 1 gene DOID:630 genetic disease ISO RGD:1320280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056244 SPIC Spi-C transcription factor gene DOID:630 genetic disease ISO RGD:1314796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056258 PEAK3 PEAK family member 3 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1352021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12056258 PEAK3 PEAK family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12056266 TMEM187 transmembrane protein 187 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354491 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12056266 TMEM187 transmembrane protein 187 gene DOID:0050476 Barth syndrome ISO RGD:1354491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12056266 TMEM187 transmembrane protein 187 gene DOID:0050800 creatine transporter deficiency ISO RGD:1354491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 12056266 TMEM187 transmembrane protein 187 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 12056266 TMEM187 transmembrane protein 187 gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1354491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 12056266 TMEM187 transmembrane protein 187 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1354491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 12056266 TMEM187 transmembrane protein 187 gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1354491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 12056266 TMEM187 transmembrane protein 187 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1354491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 12056266 TMEM187 transmembrane protein 187 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1354491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 12056266 TMEM187 transmembrane protein 187 gene DOID:0112003 immunodeficiency 33 ISO RGD:1354491 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12056266 TMEM187 transmembrane protein 187 gene DOID:10588 adrenoleukodystrophy ISO RGD:1354491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12056266 TMEM187 transmembrane protein 187 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1354491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12056266 TMEM187 transmembrane protein 187 gene DOID:12849 autistic disorder ISO RGD:1354491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12056266 TMEM187 transmembrane protein 187 gene DOID:13628 favism ISO RGD:1354491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12056266 TMEM187 transmembrane protein 187 gene DOID:2729 dyskeratosis congenita ISO RGD:1354491 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12056266 TMEM187 transmembrane protein 187 gene DOID:607 paraplegia ISO RGD:1354491 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12056266 TMEM187 transmembrane protein 187 gene DOID:630 genetic disease ISO RGD:1354491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12056266 TMEM187 transmembrane protein 187 gene DOID:9002720 Splenomegaly ISO RGD:1354491 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12056266 TMEM187 transmembrane protein 187 gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1354491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 12056266 TMEM187 transmembrane protein 187 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1354491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 12056285 IPO8 importin 8 gene DOID:630 genetic disease ISO RGD:1343350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056285 IPO8 importin 8 gene DOID:9004471 VISS syndrome ISO RGD:1343350 D RGD:7240710 20211027 OMIM 12056285 IPO8 importin 8 gene DOID:9004471 VISS syndrome ISO RGD:1343350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IPO8-related aortopathy | ClinVar Annotator: match by term: VISS syndrome PMID:16199547|PMID:25741868|PMID:28492532|PMID:33875846|PMID:34010604|PMID:34010605 12056316 HAPSTR1 HUWE1 associated protein modifying stress responses gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:1606021 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:28492532 12056316 HAPSTR1 HUWE1 associated protein modifying stress responses gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1606021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 12056316 HAPSTR1 HUWE1 associated protein modifying stress responses gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1606021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 12056316 HAPSTR1 HUWE1 associated protein modifying stress responses gene DOID:5812 MHC class II deficiency ISO RGD:1606021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12056325 RNASE13 ribonuclease A family member 13 (inactive) gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1344390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12056325 RNASE13 ribonuclease A family member 13 (inactive) gene DOID:630 genetic disease ISO RGD:1344390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056325 RNASE13 ribonuclease A family member 13 (inactive) gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1344390 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12056331 HOPX HOP homeobox gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1603377 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:28492532 12056331 HOPX HOP homeobox gene DOID:630 genetic disease ISO RGD:1603377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056331 HOPX HOP homeobox gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603377 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12056348 MIR193B microRNA mir-193b gene DOID:0050860 colorectal adenoma disease_progression ISO RGD:1603767 D RGD:9068941 20220825 RGD RNA:decreased expression:blood plasma (human) PMID:29226653|REF_RGD_ID:153344556 12056348 MIR193B microRNA mir-193b gene DOID:0080685 aortic dissection treatment ISO RGD:2314108 D RGD:9068941 20230223 RGD PMID:33403385|REF_RGD_ID:156420156 12056348 MIR193B microRNA mir-193b gene DOID:0110848 xeroderma pigmentosum group F ISO RGD:1603767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group F PMID:28492532 12056348 MIR193B microRNA mir-193b gene DOID:10534 stomach cancer disease_progression ISO RGD:1603767 D RGD:9068941 20220825 RGD RNA:decreased expression:stomach (human) PMID:27071318|REF_RGD_ID:153344555 12056348 MIR193B microRNA mir-193b gene DOID:10534 stomach cancer exacerbates ISO RGD:1603767 D RGD:9068941 20220825 RGD RNA:decreased expression:stomach (human) PMID:25374225|REF_RGD_ID:153344565 12056348 MIR193B microRNA mir-193b gene DOID:11054 urinary bladder cancer ISO RGD:1603767 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 12056348 MIR193B microRNA mir-193b gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1603767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12056348 MIR193B microRNA mir-193b gene DOID:2043 hepatitis B ISO RGD:1603767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12056348 MIR193B microRNA mir-193b gene DOID:6000 congestive heart failure ISO RGD:1603767 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12056348 MIR193B microRNA mir-193b gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12056348 MIR193B microRNA mir-193b gene DOID:9256 colorectal cancer ISO RGD:1603767 D RGD:9068941 20220825 RGD RNA:decreased expression:blood plasma (human) PMID:29226653|REF_RGD_ID:153344556 12056386 RPS2 ribosomal protein S2 gene DOID:0060224 atrial fibrillation ISO RGD:732314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12056386 RPS2 ribosomal protein S2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:732314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 12056386 RPS2 ribosomal protein S2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:732314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12056386 RPS2 ribosomal protein S2 gene DOID:1826 epilepsy ISO RGD:732314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12056386 RPS2 ribosomal protein S2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:732314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12056386 RPS2 ribosomal protein S2 gene DOID:630 genetic disease ISO RGD:732314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056386 RPS2 ribosomal protein S2 gene DOID:9002669 Hypoxia ISO RGD:732314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18258771 12056405 PRSS8 serine protease 8 gene DOID:0060713 autosomal recessive congenital ichthyosis 4B ISO RGD:730926 D RGD:9068941 20220825 MouseDO OMIM:242500 12056405 PRSS8 serine protease 8 gene DOID:0080074 neural tube defect ISO RGD:730925 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24722141 12056405 PRSS8 serine protease 8 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:730925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12056405 PRSS8 serine protease 8 gene DOID:2394 ovarian cancer ISO RGD:730925 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11584061|REF_RGD_ID:2292486 12056405 PRSS8 serine protease 8 gene DOID:3459 breast carcinoma ISO RGD:730925 D RGD:9068941 20200609 RGD PMID:11774283|REF_RGD_ID:2292485 12056405 PRSS8 serine protease 8 gene DOID:37 skin disease ISO RGD:730925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22705055 12056405 PRSS8 serine protease 8 gene DOID:630 genetic disease ISO RGD:730925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056405 PRSS8 serine protease 8 gene DOID:780 placenta disease ISO RGD:730925 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24722141 12056405 PRSS8 serine protease 8 gene DOID:8634 prostate carcinoma in situ disease_progression ISO RGD:730925 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:12518323|REF_RGD_ID:2292484 12056405 PRSS8 serine protease 8 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730925 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;mRNA:decreased expression:prostate gland, bone PMID:12518323|REF_RGD_ID:2292484 12056405 PRSS8 serine protease 8 gene DOID:9001984 Fetal Diseases ISO RGD:730925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22705055 12056405 PRSS8 serine protease 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16541421 12056405 PRSS8 serine protease 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730925 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:12518323|REF_RGD_ID:2292484 12056405 PRSS8 serine protease 8 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:730925 D RGD:9068941 20200609 RGD mRNA:increased expression:blood PMID:11173941|REF_RGD_ID:2292487 12056405 PRSS8 serine protease 8 gene DOID:9007023 Prenatal Injuries ISO RGD:730925 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24722141 12056405 PRSS8 serine protease 8 gene DOID:987 alopecia ISO RGD:619973 D RGD:9068941 20211022 RGD DNA:deletion:cds:exon 3 (rat) PMID:20201958|REF_RGD_ID:150520038 12056433 HSPA12B heat shock protein family A (Hsp70) member 12B gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1323758 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12056433 HSPA12B heat shock protein family A (Hsp70) member 12B gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1323758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12056433 HSPA12B heat shock protein family A (Hsp70) member 12B gene DOID:630 genetic disease ISO RGD:1323758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056433 HSPA12B heat shock protein family A (Hsp70) member 12B gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1323758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 12056462 CCS copper chaperone for superoxide dismutase gene DOID:1059 intellectual disability ISO RGD:733606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12056462 CCS copper chaperone for superoxide dismutase gene DOID:1289 neurodegenerative disease ISO RGD:733606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:22243965|PMID:22508683 12056462 CCS copper chaperone for superoxide dismutase gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:733606 D RGD:9068941 20200609 RGD PMID:26826269|REF_RGD_ID:13524551 12056462 CCS copper chaperone for superoxide dismutase gene DOID:5113 nutritional deficiency disease ISO RGD:733606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12514262 12056462 CCS copper chaperone for superoxide dismutase gene DOID:630 genetic disease ISO RGD:733606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056462 CCS copper chaperone for superoxide dismutase gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:733606 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12056462 CCS copper chaperone for superoxide dismutase gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:733606 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12056462 CCS copper chaperone for superoxide dismutase gene DOID:9008510 Chronic Hepatitis ISO RGD:733606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 12056482 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0050427 xeroderma pigmentosum ISO RGD:1316156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:16199547|PMID:16550608|PMID:16947863|PMID:17576681|PMID:24728327|PMID:25741868|PMID:25910212|PMID:26023681|PMID:26556299|PMID:27004399|PMID:27153395|PMID:27356891|PMID:27655433|PMID:28259476|PMID:28423363|PMID:28492532|PMID:28873162|PMID:29478780|PMID:29625052|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30414346|PMID:30787465|PMID:31664448|PMID:31681265|PMID:31874108|PMID:32183364|PMID:32295625|PMID:32427313|PMID:32496904|PMID:33780288|PMID:9536098 12056482 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1316156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:28492532 12056482 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0110850 xeroderma pigmentosum group B ISO RGD:1316156 D RGD:7240710 20180130 OMIM 12056482 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0110850 xeroderma pigmentosum group B ISO RGD:1316156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum group B PMID:16947863|PMID:2167179|PMID:24728327|PMID:25741868|PMID:26023681|PMID:26467025|PMID:26556299|PMID:26884178|PMID:27004399|PMID:27153395|PMID:27356891|PMID:27655433|PMID:28259476|PMID:28423363|PMID:28492532|PMID:28873162|PMID:29376097|PMID:29478780|PMID:29625052|PMID:30256826|PMID:30306255|PMID:30414346|PMID:30787465|PMID:31541171|PMID:31664448|PMID:31681265|PMID:31874108|PMID:32183364|PMID:32295625|PMID:32496904|PMID:4811796|PMID:8304337|PMID:8408834|PMID:8663148 12056482 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0111220 centronuclear myopathy 2 ISO RGD:1316156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 12056482 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0111866 trichothiodystrophy ISO RGD:1316156 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.T119P (human) PMID:9012405|REF_RGD_ID:13207496 12056482 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0111869 photosensitive trichothiodystrophy 2 ISO RGD:1316156 D RGD:7240710 20180130 OMIM 12056482 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0111869 photosensitive trichothiodystrophy 2 ISO RGD:1316156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 2, photosensitive PMID:24728327|PMID:25741868|PMID:27153395|PMID:28259476|PMID:28492532|PMID:30306255|PMID:30414346|PMID:31664448|PMID:31874108|PMID:32295625|PMID:9012405 12056482 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1316156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 12056482 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:10652 Alzheimer's disease ISO RGD:1316156 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:9714461|REF_RGD_ID:5688738 12056482 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:11088 asphyxia neonatorum ISO RGD:1307139 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:9763211|REF_RGD_ID:2302855 12056482 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:14250 Down syndrome ISO RGD:1316156 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (human) PMID:10328528|REF_RGD_ID:13207452 12056482 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:2394 ovarian cancer ISO RGD:1316156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 12056482 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:2962 Cockayne syndrome ISO RGD:1318736 D RGD:9068941 20200609 RGD PMID:19114557|REF_RGD_ID:10401087 12056482 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1316156 D RGD:9068941 20200609 RGD DNA:snp:intron:c.2064+741T>C (rs3738948) (human) PMID:25069034|REF_RGD_ID:11098167 12056482 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:574 peripheral nervous system disease ISO RGD:1316156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 12056482 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:630 genetic disease ISO RGD:1316156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16550608|PMID:16947863|PMID:24728327|PMID:25741868|PMID:25910212|PMID:26884178|PMID:28492532|PMID:29376097 12056482 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:1316156 D RGD:9068941 20200609 RGD DNA:snps, haplotype:introns:c.43-61A>G, c.1151-2708A>G, (rs2271026, rs4150441) (human) PMID:16835333|REF_RGD_ID:13207447 12056482 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:9007964 Arsenic Poisoning ISO RGD:1316156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12569548 12056482 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:9256 colorectal cancer ISO RGD:1316156 D RGD:9068941 20221006 RGD mRNA:increased expression:colorectum (human) PMID:16951227|REF_RGD_ID:155260343 12056511 ILK integrin linked kinase gene DOID:0050700 cardiomyopathy ISO RGD:732855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 12056511 ILK integrin linked kinase gene DOID:0060118 thoracic disease ISO RGD:732855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23045294 12056511 ILK integrin linked kinase gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:732855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11402068|PMID:11694518|PMID:14745274|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28492532|PMID:29915097|PMID:30206291|PMID:31983221|PMID:33874732|PMID:34935411|PMID:9536098 12056511 ILK integrin linked kinase gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24033266|PMID:28492532 12056511 ILK integrin linked kinase gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732855 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532 12056511 ILK integrin linked kinase gene DOID:10283 prostate cancer disease_progression ISO RGD:732855 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:lower in high versus low Gleason score tumors (p<0.05 compared to at least one housekeeping gene) PMID:18336616|REF_RGD_ID:2301729 12056511 ILK integrin linked kinase gene DOID:10283 prostate cancer disease_progression ISO RGD:732855 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:significantly lower in benign prostatic hyperplasia then any prostate cancer (p<0.01), gradient of expression from BPH to poorly differentiated C+D stage neoplasms PMID:15704679|REF_RGD_ID:2301731 12056511 ILK integrin linked kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:732855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant 12056511 ILK integrin linked kinase gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:732855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12056511 ILK integrin linked kinase gene DOID:1790 malignant mesothelioma ISO RGD:732855 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23045294 12056511 ILK integrin linked kinase gene DOID:1793 pancreatic cancer ISO RGD:732855 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 12056511 ILK integrin linked kinase gene DOID:1826 epilepsy ISO RGD:732855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20064661 12056511 ILK integrin linked kinase gene DOID:224 transient cerebral ischemia ISO RGD:732855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15472100 12056511 ILK integrin linked kinase gene DOID:2394 ovarian cancer severity ISO RGD:732855 D RGD:9068941 20200609 RGD protein:increased expression:ovary, surface of epithelium (human) PMID:14517840|REF_RGD_ID:13441558 12056511 ILK integrin linked kinase gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:732855 D RGD:9068941 20200609 RGD protein:increased expression:tumor: high-grade tumors versus adjacent BHP (P<0.001), BHP from cancer-free patients (P<0.002), or low-grade tumors (P=0.003), also associated with proliferative index (P=0.001), but inversely related to 5-year survival (p=0.004) PMID:11448915|REF_RGD_ID:2301734 12056511 ILK integrin linked kinase gene DOID:2843 long QT syndrome ISO RGD:732855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12056511 ILK integrin linked kinase gene DOID:630 genetic disease ISO RGD:732855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532|PMID:34935411 12056511 ILK integrin linked kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16941698 12056511 ILK integrin linked kinase gene DOID:9004271 Colonic Polyps ISO RGD:732855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11593435 12056511 ILK integrin linked kinase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732855 D RGD:9068941 20200609 RGD late onset development of tumors in transgenic mice overexpressing human ILK in mammary glands PMID:11704830|REF_RGD_ID:2301733 12056511 ILK integrin linked kinase gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18702665|PMID:19629758 12056528 SNRK SNF related kinase gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:735399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 12056528 SNRK SNF related kinase gene DOID:630 genetic disease ISO RGD:735399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056539 FAM217A family with sequence similarity 217 member A gene DOID:630 genetic disease ISO RGD:1345120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056569 SSB small RNA binding exonuclease protection factor La gene DOID:0080600 COVID-19 ISO RGD:1348902 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12056569 SSB small RNA binding exonuclease protection factor La gene DOID:630 genetic disease ISO RGD:1348902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056585 DNAAF1 dynein axonemal assembly factor 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1606172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:19944400|PMID:19944405 12056585 DNAAF1 dynein axonemal assembly factor 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1606172 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Situs ambiguus PMID:16199547|PMID:19944400|PMID:19944405|PMID:24033266|PMID:25158045|PMID:25741868|PMID:27884173|PMID:28492532 12056585 DNAAF1 dynein axonemal assembly factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606172 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12056585 DNAAF1 dynein axonemal assembly factor 1 gene DOID:0110618 primary ciliary dyskinesia 13 ISO RGD:1606172 D RGD:7240710 20190315 OMIM 12056585 DNAAF1 dynein axonemal assembly factor 1 gene DOID:0110618 primary ciliary dyskinesia 13 ISO RGD:1606172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 13 PMID:16199547|PMID:19944400|PMID:19944405|PMID:22499950|PMID:23599692|PMID:24033266|PMID:24498942|PMID:25158045|PMID:25741868|PMID:27543293|PMID:27884173|PMID:28492532 12056585 DNAAF1 dynein axonemal assembly factor 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1606172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12056585 DNAAF1 dynein axonemal assembly factor 1 gene DOID:630 genetic disease ISO RGD:1606172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12056585 DNAAF1 dynein axonemal assembly factor 1 gene DOID:758 situs inversus ISO RGD:1606172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:16199547|PMID:19944400|PMID:19944405|PMID:24033266|PMID:25158045|PMID:25741868|PMID:27884173|PMID:28492532 12056585 DNAAF1 dynein axonemal assembly factor 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1606172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:19944400|PMID:19944405|PMID:22499950|PMID:23599692|PMID:24033266|PMID:24307375|PMID:24498942|PMID:25158045|PMID:25741868|PMID:26633542|PMID:27543293|PMID:27884173|PMID:28492532|PMID:28991257|PMID:29228333|PMID:30067075|PMID:9536098 12056601 PAXX PAXX non-homologous end joining factor gene DOID:0050777 Joubert syndrome ISO RGD:1606404 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12056601 PAXX PAXX non-homologous end joining factor gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1606404 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12056601 PAXX PAXX non-homologous end joining factor gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1606404 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12056601 PAXX PAXX non-homologous end joining factor gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1606404 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12056601 PAXX PAXX non-homologous end joining factor gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606404 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12056601 PAXX PAXX non-homologous end joining factor gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1606404 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12056601 PAXX PAXX non-homologous end joining factor gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1606404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12056601 PAXX PAXX non-homologous end joining factor gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1606404 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12056601 PAXX PAXX non-homologous end joining factor gene DOID:0081097 Rafiq syndrome ISO RGD:1606404 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12056601 PAXX PAXX non-homologous end joining factor gene DOID:1826 epilepsy ISO RGD:1606404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12056601 PAXX PAXX non-homologous end joining factor gene DOID:3652 Leigh disease ISO RGD:1606404 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12056601 PAXX PAXX non-homologous end joining factor gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1606404 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12056612 TXK TXK tyrosine kinase gene DOID:630 genetic disease ISO RGD:1315122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056629 OSBPL5 oxysterol binding protein like 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12056629 OSBPL5 oxysterol binding protein like 5 gene DOID:0080773 delta beta-thalassemia ISO RGD:1318150 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12056629 OSBPL5 oxysterol binding protein like 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12056629 OSBPL5 oxysterol binding protein like 5 gene DOID:630 genetic disease ISO RGD:1318150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056655 MPV17L2 MPV17 mitochondrial inner membrane protein like 2 gene DOID:630 genetic disease ISO RGD:1603190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056655 MPV17L2 MPV17 mitochondrial inner membrane protein like 2 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1603190 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12056669 IRS2 insulin receptor substrate 2 gene DOID:0050902 medulloblastoma ISO RGD:736204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 12056669 IRS2 insulin receptor substrate 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69316 D RGD:9068941 20200609 RGD PMID:20846698|REF_RGD_ID:6483014 12056669 IRS2 insulin receptor substrate 2 gene DOID:10652 Alzheimer's disease ISO RGD:736205 D RGD:9068941 20200609 RGD PMID:19487308|REF_RGD_ID:10045878 12056669 IRS2 insulin receptor substrate 2 gene DOID:10652 Alzheimer's disease ISO RGD:736205 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus: PMID:24887203|REF_RGD_ID:10045934 12056669 IRS2 insulin receptor substrate 2 gene DOID:10652 Alzheimer's disease severity ISO RGD:736204 D RGD:9068941 20200609 RGD protein:decreased expression:temporal cortex: PMID:18479783|REF_RGD_ID:10045894 12056669 IRS2 insulin receptor substrate 2 gene DOID:11476 osteoporosis ISO RGD:69316 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; protein:decreased expression:liver,kidney, muscle: PMID:22820932|REF_RGD_ID:7207063 12056669 IRS2 insulin receptor substrate 2 gene DOID:2222 factor X deficiency ISO RGD:736204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12056669 IRS2 insulin receptor substrate 2 gene DOID:4195 hyperglycemia ISO RGD:736204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20028942|PMID:25808216 12056669 IRS2 insulin receptor substrate 2 gene DOID:630 genetic disease ISO RGD:736204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056669 IRS2 insulin receptor substrate 2 gene DOID:684 hepatocellular carcinoma ISO RGD:736204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16127164 12056669 IRS2 insulin receptor substrate 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:736204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12056669 IRS2 insulin receptor substrate 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736204 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney tubule: PMID:23617393|REF_RGD_ID:7257702 12056669 IRS2 insulin receptor substrate 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:69316 D RGD:9068941 20200609 RGD PMID:20720385|REF_RGD_ID:7257699 12056669 IRS2 insulin receptor substrate 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:736204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12056669 IRS2 insulin receptor substrate 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69316 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:heart PMID:20555424|REF_RGD_ID:4142788 12056669 IRS2 insulin receptor substrate 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25808216 12056669 IRS2 insulin receptor substrate 2 gene DOID:9007692 Insulin Resistance ISO RGD:736204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25808216 12056669 IRS2 insulin receptor substrate 2 gene DOID:9007692 Insulin Resistance ISO RGD:736204 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:G1057D PMID:15811564|REF_RGD_ID:1625025 12056669 IRS2 insulin receptor substrate 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736204 D RGD:7240710 20180130 OMIM 12056675 FAM13A family with sequence similarity 13 member A gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1320343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 12056675 FAM13A family with sequence similarity 13 member A gene DOID:0110859 polycystic kidney disease 2 ISO RGD:1320343 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 2 PMID:25741868 12056675 FAM13A family with sequence similarity 13 member A gene DOID:1749 squamous cell carcinoma ISO RGD:1320343 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 12056675 FAM13A family with sequence similarity 13 member A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1320343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease 12056675 FAM13A family with sequence similarity 13 member A gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1320343 D RGD:9068941 20200609 RGD DNA:SNP: :rs7671167 (human) PMID:25928290|REF_RGD_ID:11552597 12056675 FAM13A family with sequence similarity 13 member A gene DOID:3770 pulmonary fibrosis ISO RGD:1320343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28166215 12056675 FAM13A family with sequence similarity 13 member A gene DOID:630 genetic disease ISO RGD:1320343 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:27993330 12056675 FAM13A family with sequence similarity 13 member A gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1320343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12056711 TPPP tubulin polymerization promoting protein gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1605400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 12056711 TPPP tubulin polymerization promoting protein gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1605400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 12056711 TPPP tubulin polymerization promoting protein gene DOID:0080600 COVID-19 ISO RGD:1605400 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12056711 TPPP tubulin polymerization promoting protein gene DOID:630 genetic disease ISO RGD:1605400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056711 TPPP tubulin polymerization promoting protein gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1605400 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 12056718 ZNF592 zinc finger protein 592 gene DOID:0060364 Galloway-Mowat syndrome 1 ISO RGD:1318632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 PMID:12030328|PMID:20531441|PMID:25741868|PMID:26123727 12056718 ZNF592 zinc finger protein 592 gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1318632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20531441 12056718 ZNF592 zinc finger protein 592 gene DOID:10487 Hirschsprung's disease ISO RGD:1318632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 12056718 ZNF592 zinc finger protein 592 gene DOID:2717 Bloom syndrome ISO RGD:1318632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12056718 ZNF592 zinc finger protein 592 gene DOID:3312 bipolar disorder ISO RGD:1318632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12056718 ZNF592 zinc finger protein 592 gene DOID:630 genetic disease ISO RGD:1318632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056718 ZNF592 zinc finger protein 592 gene DOID:9256 colorectal cancer ISO RGD:1318632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12056737 LGI2 leucine rich repeat LGI family member 2 gene DOID:1826 epilepsy IAGP D RGD:12801476 20230510 OMIA Epilepsy, benign familial juvenile PMID:17552452|PMID:21829378|PMID:23683021|PMID:24070682|PMID:26931499|PMID:25945683 12056737 LGI2 leucine rich repeat LGI family member 2 gene DOID:630 genetic disease ISO RGD:1321270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056752 KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1354203 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12056752 KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 gene DOID:12712 nephronophthisis ISO RGD:1354203 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 12056752 KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 gene DOID:1826 epilepsy ISO RGD:1354203 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12056752 KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 gene DOID:630 genetic disease ISO RGD:1354203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056752 KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12056784 PKD1L2 polycystin 1 like 2 gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1343423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 12056784 PKD1L2 polycystin 1 like 2 gene DOID:2843 long QT syndrome ISO RGD:1343423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12056784 PKD1L2 polycystin 1 like 2 gene DOID:630 genetic disease ISO RGD:1343423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056784 PKD1L2 polycystin 1 like 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1343423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12056828 RUSF1 RUS family member 1 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1601979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12056828 RUSF1 RUS family member 1 gene DOID:630 genetic disease ISO RGD:1601979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056828 RUSF1 RUS family member 1 gene DOID:9432 renal glycosuria ISO RGD:1601979 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial renal glucosuria PMID:14569097|PMID:14614622|PMID:15110322|PMID:18622023|PMID:25741868|PMID:28492532 12056852 MED6 mediator complex subunit 6 gene DOID:630 genetic disease ISO RGD:1321116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056864 ADAP1 ArfGAP with dual PH domains 1 gene DOID:630 genetic disease ISO RGD:733651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056879 CFAP74 cilia and flagella associated protein 74 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12056879 CFAP74 cilia and flagella associated protein 74 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12056879 CFAP74 cilia and flagella associated protein 74 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1604563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12056879 CFAP74 cilia and flagella associated protein 74 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1604563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12056879 CFAP74 cilia and flagella associated protein 74 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1604563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12056879 CFAP74 cilia and flagella associated protein 74 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1604563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12056879 CFAP74 cilia and flagella associated protein 74 gene DOID:0111934 immunodeficiency 38 ISO RGD:1604563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12056879 CFAP74 cilia and flagella associated protein 74 gene DOID:0111935 immunodeficiency 16 ISO RGD:1604563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12056879 CFAP74 cilia and flagella associated protein 74 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12056879 CFAP74 cilia and flagella associated protein 74 gene DOID:630 genetic disease ISO RGD:1604563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056879 CFAP74 cilia and flagella associated protein 74 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12056879 CFAP74 cilia and flagella associated protein 74 gene DOID:9005405 Primary Ciliary Dyskinesia 49 ISO RGD:1604563 D RGD:7240710 20230201 OMIM 12056879 CFAP74 cilia and flagella associated protein 74 gene DOID:9005405 Primary Ciliary Dyskinesia 49 ISO RGD:1604563 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 49, without situs inversus PMID:32555313|PMID:36047773 12056879 CFAP74 cilia and flagella associated protein 74 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1604563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12056879 CFAP74 cilia and flagella associated protein 74 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1604563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12056942 GPR22 G protein-coupled receptor 22 gene DOID:0070261 congenital disorder of glycosylation type IIi ISO RGD:1321987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COG5-CDG PMID:23228021|PMID:28492532 12056942 GPR22 G protein-coupled receptor 22 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12056942 GPR22 G protein-coupled receptor 22 gene DOID:630 genetic disease ISO RGD:1321987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056953 DAPL1 death associated protein like 1 gene DOID:630 genetic disease ISO RGD:1603932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056961 CMPK2 cytidine/uridine monophosphate kinase 2 gene DOID:2377 multiple sclerosis ISO RGD:1602074 D RGD:9068941 20200609 RGD mRNA:altered expression:PMN cell (human) PMID:20136355|REF_RGD_ID:5133255 12056961 CMPK2 cytidine/uridine monophosphate kinase 2 gene DOID:630 genetic disease ISO RGD:1602074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056974 TTC16 tetratricopeptide repeat domain 16 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321657 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12056974 TTC16 tetratricopeptide repeat domain 16 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321657 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12056974 TTC16 tetratricopeptide repeat domain 16 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1321657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12056974 TTC16 tetratricopeptide repeat domain 16 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1321657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 12056974 TTC16 tetratricopeptide repeat domain 16 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321657 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12056974 TTC16 tetratricopeptide repeat domain 16 gene DOID:5426 primary ovarian insufficiency ISO RGD:1321657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12056974 TTC16 tetratricopeptide repeat domain 16 gene DOID:630 genetic disease ISO RGD:1321657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12056992 ANKRD66 ankyrin repeat domain 66 gene DOID:630 genetic disease ISO RGD:7204990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057010 DEXI Dexi homolog gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1603056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 12057010 DEXI Dexi homolog gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1603056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 12057010 DEXI Dexi homolog gene DOID:5812 MHC class II deficiency ISO RGD:1603056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12057010 DEXI Dexi homolog gene DOID:630 genetic disease ISO RGD:1603056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057020 SLC25A51 solute carrier family 25 member 51 gene DOID:630 genetic disease ISO RGD:1313070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057036 CRELD2 cysteine rich with EGF like domains 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1603954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12057036 CRELD2 cysteine rich with EGF like domains 2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1603954 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12057036 CRELD2 cysteine rich with EGF like domains 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1603954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12057036 CRELD2 cysteine rich with EGF like domains 2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1603954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12057036 CRELD2 cysteine rich with EGF like domains 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1603954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12057036 CRELD2 cysteine rich with EGF like domains 2 gene DOID:1059 intellectual disability ISO RGD:1603954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12057036 CRELD2 cysteine rich with EGF like domains 2 gene DOID:630 genetic disease ISO RGD:1603954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057050 MIR34A microRNA mir-34a gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1343452 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12057050 MIR34A microRNA mir-34a gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1343452 D RGD:9068941 20200609 RGD miRNA:increased expression:plasma PMID:27077736|REF_RGD_ID:11533145 12057050 MIR34A microRNA mir-34a gene DOID:10603 glucose intolerance ISO RGD:1343452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23834033 12057050 MIR34A microRNA mir-34a gene DOID:11294 arteriovenous malformation ISO RGD:1343452 D RGD:9068941 20221013 RGD miRNA:increased expression:blood plasma (human) PMID:23051042|REF_RGD_ID:155582214 12057050 MIR34A microRNA mir-34a gene DOID:114 heart disease ISO RGD:1343452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25448438 12057050 MIR34A microRNA mir-34a gene DOID:2030 anxiety disorder ISO RGD:1343452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27424985 12057050 MIR34A microRNA mir-34a gene DOID:6000 congestive heart failure ISO RGD:2325584 D RGD:9068941 20200609 RGD RNA:increased expression:heart PMID:29373037|REF_RGD_ID:26923905 12057050 MIR34A microRNA mir-34a gene DOID:684 hepatocellular carcinoma ISO RGD:1343452 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver PMID:29328457|REF_RGD_ID:14694836 12057050 MIR34A microRNA mir-34a gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1343452 D RGD:9068941 20200609 RGD human cell line in a mouse model PMID:25217526|REF_RGD_ID:14694835 12057050 MIR34A microRNA mir-34a gene DOID:687 hepatoblastoma severity ISO RGD:1343452 D RGD:9068941 20200609 RGD miRNA:increased expression:liver PMID:27046304|REF_RGD_ID:14695006 12057050 MIR34A microRNA mir-34a gene DOID:8398 osteoarthritis ISO RGD:1343452 D RGD:9068941 20220520 RGD mRNA:increased expression:knee, hip (human) PMID:30048987|REF_RGD_ID:152177909 12057050 MIR34A microRNA mir-34a gene DOID:8398 osteoarthritis treatment ISO RGD:2325584 D RGD:9068941 20220520 RGD PMID:30048987|REF_RGD_ID:152177909 12057050 MIR34A microRNA mir-34a gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1343452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12057050 MIR34A microRNA mir-34a gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2325584 D RGD:9068941 20200609 RGD miRNA:increased expression:liver PMID:28963950|REF_RGD_ID:14695005 12057050 MIR34A microRNA mir-34a gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12057050 MIR34A microRNA mir-34a gene DOID:9005372 Inflammation ISO RGD:1343452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23834033 12057050 MIR34A microRNA mir-34a gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1343452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12057050 MIR34A microRNA mir-34a gene DOID:9007482 Bone Metastasis susceptibility ISO RGD:1343452 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma;miRNA:decreased expression:serum, bone PMID:27893432|REF_RGD_ID:14694837 12057050 MIR34A microRNA mir-34a gene DOID:9256 colorectal cancer ISO RGD:1343452 D RGD:9068941 20220721 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12057050 MIR34A microRNA mir-34a gene DOID:9452 fatty liver disease ISO RGD:1343452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23834033 12057050 MIR34A microRNA mir-34a gene DOID:9970 obesity ISO RGD:1343452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23834033 12057110 NXPH2 neurexophilin 2 gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1344701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 12057110 NXPH2 neurexophilin 2 gene DOID:5119 ovarian cyst ISO RGD:1344701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12057110 NXPH2 neurexophilin 2 gene DOID:630 genetic disease ISO RGD:1344701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057161 MMP2 matrix metallopeptidase 2 gene DOID:0002116 pterygium disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:19420332|REF_RGD_ID:8657043 12057161 MMP2 matrix metallopeptidase 2 gene DOID:0050700 cardiomyopathy ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:16681691|REF_RGD_ID:1581215 12057161 MMP2 matrix metallopeptidase 2 gene DOID:0050777 Joubert syndrome ISO RGD:730821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:17558409|PMID:28492532 12057161 MMP2 matrix metallopeptidase 2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17642161|REF_RGD_ID:2290392 12057161 MMP2 matrix metallopeptidase 2 gene DOID:0060224 atrial fibrillation ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:18194448|REF_RGD_ID:8547896 12057161 MMP2 matrix metallopeptidase 2 gene DOID:0080001 bone disease ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17440987 12057161 MMP2 matrix metallopeptidase 2 gene DOID:0080162 lupus nephritis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22479529 12057161 MMP2 matrix metallopeptidase 2 gene DOID:0080334 aortic valve disease 2 ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:23615040|REF_RGD_ID:13204802 12057161 MMP2 matrix metallopeptidase 2 gene DOID:0080600 COVID-19 ISO RGD:730821 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 12057161 MMP2 matrix metallopeptidase 2 gene DOID:0080685 aortic dissection treatment ISO RGD:730822 D RGD:9068941 20230223 RGD Apolipoprotein E knockout PMID:33403385|REF_RGD_ID:156420156 12057161 MMP2 matrix metallopeptidase 2 gene DOID:0080696 Winchester syndrome ISO RGD:730821 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Winchester-Grossman syndrome PMID:10356396|PMID:11431697|PMID:15691365|PMID:16458924|PMID:16542393|PMID:17059372|PMID:17576681|PMID:19019335|PMID:20617897|PMID:20673868|PMID:21421877|PMID:23313298|PMID:23378725|PMID:25600631|PMID:25704319|PMID:25741868|PMID:2625626|PMID:27182040|PMID:28492532|PMID:6525336|PMID:9536098 12057161 MMP2 matrix metallopeptidase 2 gene DOID:0080746 Sweet syndrome ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:21658319|REF_RGD_ID:8657060 12057161 MMP2 matrix metallopeptidase 2 gene DOID:0080933 immunoglobulin light chain amyloidosis ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:renal glomeruli (human) PMID:16164636|REF_RGD_ID:7207084 12057161 MMP2 matrix metallopeptidase 2 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (rat) PMID:11590325|REF_RGD_ID:7207204 12057161 MMP2 matrix metallopeptidase 2 gene DOID:0111563 Sturge-Weber syndrome severity ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:23720035|REF_RGD_ID:13204823 12057161 MMP2 matrix metallopeptidase 2 gene DOID:10126 keratoconus ISO RGD:730821 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:22580443|REF_RGD_ID:8657033 12057161 MMP2 matrix metallopeptidase 2 gene DOID:10159 osteonecrosis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19070762 12057161 MMP2 matrix metallopeptidase 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18329693|REF_RGD_ID:2290389 12057161 MMP2 matrix metallopeptidase 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:23185624|REF_RGD_ID:13204814 12057161 MMP2 matrix metallopeptidase 2 gene DOID:10591 pre-eclampsia ISO RGD:730821 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:placenta PMID:17083831|REF_RGD_ID:2290399 12057161 MMP2 matrix metallopeptidase 2 gene DOID:10652 Alzheimer's disease ISO RGD:730821 D RGD:9068941 20200609 RGD protein:decreased expression:platelet PMID:21875409|REF_RGD_ID:10059680 12057161 MMP2 matrix metallopeptidase 2 gene DOID:1073 renal hypertension ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:12923405|REF_RGD_ID:1302333 12057161 MMP2 matrix metallopeptidase 2 gene DOID:10763 hypertension ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:17977875|REF_RGD_ID:2290351 12057161 MMP2 matrix metallopeptidase 2 gene DOID:10763 hypertension ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18836702 12057161 MMP2 matrix metallopeptidase 2 gene DOID:10763 hypertension ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:16840178|REF_RGD_ID:1582612 12057161 MMP2 matrix metallopeptidase 2 gene DOID:10808 gastric ulcer ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach PMID:15375341|REF_RGD_ID:10043177 12057161 MMP2 matrix metallopeptidase 2 gene DOID:10941 intracranial aneurysm ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA:increased expression:blood vessel PMID:17569872|REF_RGD_ID:2290352 12057161 MMP2 matrix metallopeptidase 2 gene DOID:10941 intracranial aneurysm ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:9724118|REF_RGD_ID:1582590 12057161 MMP2 matrix metallopeptidase 2 gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:16961137|REF_RGD_ID:1582646 12057161 MMP2 matrix metallopeptidase 2 gene DOID:10964 cholesteatoma of middle ear severity ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:15620146|REF_RGD_ID:8547870 12057161 MMP2 matrix metallopeptidase 2 gene DOID:11054 urinary bladder cancer ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30548095 12057161 MMP2 matrix metallopeptidase 2 gene DOID:11054 urinary bladder cancer ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:17466450|REF_RGD_ID:2290395 12057161 MMP2 matrix metallopeptidase 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:621316 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:21910062|REF_RGD_ID:9999396 12057161 MMP2 matrix metallopeptidase 2 gene DOID:11830 myopia ISO RGD:730821 D RGD:9068941 20200609 RGD DNA:SNPs:cds, introns:multiple PMID:20484597|REF_RGD_ID:8549731 12057161 MMP2 matrix metallopeptidase 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18585501|REF_RGD_ID:5130889 12057161 MMP2 matrix metallopeptidase 2 gene DOID:12236 primary biliary cholangitis treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:20056896|REF_RGD_ID:8552731 12057161 MMP2 matrix metallopeptidase 2 gene DOID:12662 paracoccidioidomycosis ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:19765107|REF_RGD_ID:8657058 12057161 MMP2 matrix metallopeptidase 2 gene DOID:127 leiomyoma ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:myometrium PMID:17943549|REF_RGD_ID:2290362 12057161 MMP2 matrix metallopeptidase 2 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:730822 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:bronchoalveolar lavage fluid PMID:17254480|REF_RGD_ID:5130726 12057161 MMP2 matrix metallopeptidase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:11034943|REF_RGD_ID:1582586 12057161 MMP2 matrix metallopeptidase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:16037568|REF_RGD_ID:1582576 12057161 MMP2 matrix metallopeptidase 2 gene DOID:13001 carotid stenosis ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:16147977|REF_RGD_ID:1582575 12057161 MMP2 matrix metallopeptidase 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:kidney PMID:19357873|REF_RGD_ID:2325738 12057161 MMP2 matrix metallopeptidase 2 gene DOID:13241 Behcet's disease ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:17949555|REF_RGD_ID:8657044 12057161 MMP2 matrix metallopeptidase 2 gene DOID:13375 temporal arteritis ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased activity:temporal artery PMID:17502363|REF_RGD_ID:8657040 12057161 MMP2 matrix metallopeptidase 2 gene DOID:13580 cholestasis treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:21274875|REF_RGD_ID:8552699 12057161 MMP2 matrix metallopeptidase 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 12057161 MMP2 matrix metallopeptidase 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta PMID:20621845|REF_RGD_ID:5129489 12057161 MMP2 matrix metallopeptidase 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16159824 12057161 MMP2 matrix metallopeptidase 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:16159824|REF_RGD_ID:1582608 12057161 MMP2 matrix metallopeptidase 2 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 12057161 MMP2 matrix metallopeptidase 2 gene DOID:14323 Marfan syndrome ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18178469 12057161 MMP2 matrix metallopeptidase 2 gene DOID:14323 Marfan syndrome ISO RGD:730821 D RGD:9068941 20200609 RGD associated with thoracic aortic aneurysm;protein:decreased activity:aorta (human) PMID:16820601|REF_RGD_ID:1582351 12057161 MMP2 matrix metallopeptidase 2 gene DOID:14323 Marfan syndrome treatment ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:18178469|REF_RGD_ID:13204796 12057161 MMP2 matrix metallopeptidase 2 gene DOID:1574 alcohol use disorder ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:24966898|REF_RGD_ID:13207311 12057161 MMP2 matrix metallopeptidase 2 gene DOID:1727 retinal vein occlusion ISO RGD:730821 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1306C>T (rs243865) (human) PMID:23791966|REF_RGD_ID:8657048 12057161 MMP2 matrix metallopeptidase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa PMID:21624249|REF_RGD_ID:8657057 12057161 MMP2 matrix metallopeptidase 2 gene DOID:1793 pancreatic cancer ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30603057 12057161 MMP2 matrix metallopeptidase 2 gene DOID:1793 pancreatic cancer ISO RGD:730821 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:7635566|REF_RGD_ID:2325766 12057161 MMP2 matrix metallopeptidase 2 gene DOID:1793 pancreatic cancer ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased activity:pancreatic juice PMID:11961486|REF_RGD_ID:2325752 12057161 MMP2 matrix metallopeptidase 2 gene DOID:182 calcinosis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15545515|PMID:21193197 12057161 MMP2 matrix metallopeptidase 2 gene DOID:1936 atherosclerosis ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:16317521|REF_RGD_ID:1582628 12057161 MMP2 matrix metallopeptidase 2 gene DOID:1936 atherosclerosis ameliorates ISO RGD:730822 D RGD:9068941 20230330 RGD PMID:31757932|REF_RGD_ID:242905202 12057161 MMP2 matrix metallopeptidase 2 gene DOID:1936 atherosclerosis treatment ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:20370796|REF_RGD_ID:8657031 12057161 MMP2 matrix metallopeptidase 2 gene DOID:224 transient cerebral ischemia ISO RGD:621316 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:brain PMID:11592852|REF_RGD_ID:8547930 12057161 MMP2 matrix metallopeptidase 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:24828425|REF_RGD_ID:8657086 12057161 MMP2 matrix metallopeptidase 2 gene DOID:2316 brain ischemia ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:15963646|REF_RGD_ID:1582577 12057161 MMP2 matrix metallopeptidase 2 gene DOID:234 colon adenocarcinoma ISO RGD:730821 D RGD:9068941 20220826 RGD protein:increased expression:colon (human) PMID:22419013|REF_RGD_ID:153344572 12057161 MMP2 matrix metallopeptidase 2 gene DOID:2349 arteriosclerosis ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:12526080|REF_RGD_ID:1582580 12057161 MMP2 matrix metallopeptidase 2 gene DOID:255 hemangioma ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:19821096|REF_RGD_ID:8657063 12057161 MMP2 matrix metallopeptidase 2 gene DOID:2615 papilloma treatment ISO RGD:730822 D RGD:9068941 20200609 RGD associated with Skin Neoplasms PMID:20619141|REF_RGD_ID:8657035 12057161 MMP2 matrix metallopeptidase 2 gene DOID:2671 transitional cell carcinoma ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16901349|REF_RGD_ID:2290349 12057161 MMP2 matrix metallopeptidase 2 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:730821 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:multiple PMID:20541540|REF_RGD_ID:8657064 12057161 MMP2 matrix metallopeptidase 2 gene DOID:2876 laryngeal squamous cell carcinoma ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:17786346|REF_RGD_ID:5130203 12057161 MMP2 matrix metallopeptidase 2 gene DOID:289 endometriosis ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:20056200|REF_RGD_ID:2325695 12057161 MMP2 matrix metallopeptidase 2 gene DOID:3068 glioblastoma ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16598420 12057161 MMP2 matrix metallopeptidase 2 gene DOID:3068 glioblastoma severity ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:brain (human) PMID:7616276|REF_RGD_ID:7207145 12057161 MMP2 matrix metallopeptidase 2 gene DOID:3070 high grade glioma treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:19292920|REF_RGD_ID:8657080 12057161 MMP2 matrix metallopeptidase 2 gene DOID:321 tropical spastic paraparesis ISO RGD:730821 D RGD:9068941 20200609 RGD associated with Sjogren's Syndrome PMID:10464559|REF_RGD_ID:8657078 12057161 MMP2 matrix metallopeptidase 2 gene DOID:326 ischemia ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:12842442|REF_RGD_ID:1582562 12057161 MMP2 matrix metallopeptidase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:730822 D RGD:9068941 20200609 RGD protein:increased expression:skin of body, spinal cord PMID:20441996|REF_RGD_ID:13204793 12057161 MMP2 matrix metallopeptidase 2 gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:serum, cerebrospinal fluid (human) PMID:19796283|REF_RGD_ID:7207054 12057161 MMP2 matrix metallopeptidase 2 gene DOID:3347 osteosarcoma ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25605016 12057161 MMP2 matrix metallopeptidase 2 gene DOID:3407 carotid artery disease ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:16339461|REF_RGD_ID:1582626 12057161 MMP2 matrix metallopeptidase 2 gene DOID:3526 cerebral infarction ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16846501 12057161 MMP2 matrix metallopeptidase 2 gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:17377415|REF_RGD_ID:2325746 12057161 MMP2 matrix metallopeptidase 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:730821 D RGD:9068941 20220526 RGD protein:increased activity: esophagus PMID:24789592|REF_RGD_ID:152600903 12057161 MMP2 matrix metallopeptidase 2 gene DOID:3770 pulmonary fibrosis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21468558 12057161 MMP2 matrix metallopeptidase 2 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:lung PMID:17143501|REF_RGD_ID:5130739 12057161 MMP2 matrix metallopeptidase 2 gene DOID:4079 heart valve disease ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:24093773|REF_RGD_ID:13204818 12057161 MMP2 matrix metallopeptidase 2 gene DOID:4448 macular degeneration no_association ISO RGD:730821 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1306C>T (rs243865) (human) PMID:23536957|REF_RGD_ID:8657041 12057161 MMP2 matrix metallopeptidase 2 gene DOID:4448 macular degeneration susceptibility ISO RGD:730821 D RGD:9068941 20200609 RGD DNA:silent mutation:cds:c.1380G>A (rs2287074) (human) PMID:18359774|REF_RGD_ID:8657039 12057161 MMP2 matrix metallopeptidase 2 gene DOID:4450 renal cell carcinoma ISO RGD:730821 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:18035688|REF_RGD_ID:2290358 12057161 MMP2 matrix metallopeptidase 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17572184|REF_RGD_ID:2290359 12057161 MMP2 matrix metallopeptidase 2 gene DOID:4947 cholangiocarcinoma ISO RGD:621316 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:15213623|REF_RGD_ID:2324667 12057161 MMP2 matrix metallopeptidase 2 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:19629755|REF_RGD_ID:2325769 12057161 MMP2 matrix metallopeptidase 2 gene DOID:5082 liver cirrhosis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15763341|PMID:26396155 12057161 MMP2 matrix metallopeptidase 2 gene DOID:5082 liver cirrhosis treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:23411180|REF_RGD_ID:8657103 12057161 MMP2 matrix metallopeptidase 2 gene DOID:520 aortic disease ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15545515 12057161 MMP2 matrix metallopeptidase 2 gene DOID:5517 stomach carcinoma ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:stomach PMID:20434464|REF_RGD_ID:2325777 12057161 MMP2 matrix metallopeptidase 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:28595731 12057161 MMP2 matrix metallopeptidase 2 gene DOID:5773 oral submucous fibrosis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 12057161 MMP2 matrix metallopeptidase 2 gene DOID:5844 myocardial infarction ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:10773235|PMID:11179039|REF_RGD_ID:1582587|REF_RGD_ID:7207136 12057161 MMP2 matrix metallopeptidase 2 gene DOID:5844 myocardial infarction ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16310260|PMID:24358288 12057161 MMP2 matrix metallopeptidase 2 gene DOID:6000 congestive heart failure ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:10773234|REF_RGD_ID:2290467 12057161 MMP2 matrix metallopeptidase 2 gene DOID:6000 congestive heart failure ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle, plasma PMID:20606426|REF_RGD_ID:8694112 12057161 MMP2 matrix metallopeptidase 2 gene DOID:6000 congestive heart failure severity ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:16169329|REF_RGD_ID:1582574 12057161 MMP2 matrix metallopeptidase 2 gene DOID:6195 conjunctivitis treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:23378729|REF_RGD_ID:8657047 12057161 MMP2 matrix metallopeptidase 2 gene DOID:630 genetic disease ISO RGD:730821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12057161 MMP2 matrix metallopeptidase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20084675 12057161 MMP2 matrix metallopeptidase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16872482 12057161 MMP2 matrix metallopeptidase 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:15238617|PMID:15300177|PMID:20016209|REF_RGD_ID:1302825|REF_RGD_ID:1582579|REF_RGD_ID:2325698 12057161 MMP2 matrix metallopeptidase 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:11457749|REF_RGD_ID:1582585 12057161 MMP2 matrix metallopeptidase 2 gene DOID:7693 abdominal aortic aneurysm no_association ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:16458924|REF_RGD_ID:1582621 12057161 MMP2 matrix metallopeptidase 2 gene DOID:7693 abdominal aortic aneurysm treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:21256058|PMID:24484904|REF_RGD_ID:13207313|REF_RGD_ID:8657104 12057161 MMP2 matrix metallopeptidase 2 gene DOID:783 end stage renal disease ISO RGD:730821 D RGD:9068941 20200609 RGD associated with Hypertension; protein:increased expression:plasma (human) PMID:19886850|REF_RGD_ID:7207051 12057161 MMP2 matrix metallopeptidase 2 gene DOID:820 myocarditis ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:16533694|REF_RGD_ID:1582352 12057161 MMP2 matrix metallopeptidase 2 gene DOID:824 periodontitis ISO RGD:621316 D RGD:9068941 20200609 RGD protein:increased expression: periodontal ligament PMID:16845949|REF_RGD_ID:2325939 12057161 MMP2 matrix metallopeptidase 2 gene DOID:8398 osteoarthritis ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid (human) PMID:15194590|REF_RGD_ID:7207131 12057161 MMP2 matrix metallopeptidase 2 gene DOID:8553 pyoderma gangrenosum ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:21658319|REF_RGD_ID:8657060 12057161 MMP2 matrix metallopeptidase 2 gene DOID:869 cholesteatoma ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:19484988|REF_RGD_ID:8657059 12057161 MMP2 matrix metallopeptidase 2 gene DOID:8725 vascular dementia ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:16385583|REF_RGD_ID:1582624 12057161 MMP2 matrix metallopeptidase 2 gene DOID:8923 skin melanoma ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:12404291|PMID:20966734|REF_RGD_ID:13204786|REF_RGD_ID:8657055 12057161 MMP2 matrix metallopeptidase 2 gene DOID:8923 skin melanoma severity ISO RGD:730821 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:18251742|REF_RGD_ID:8657075 12057161 MMP2 matrix metallopeptidase 2 gene DOID:8947 diabetic retinopathy ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:12714657|REF_RGD_ID:1582582 12057161 MMP2 matrix metallopeptidase 2 gene DOID:8947 diabetic retinopathy ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18552985|REF_RGD_ID:8547849 12057161 MMP2 matrix metallopeptidase 2 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:16619570|REF_RGD_ID:2290402 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9000011 Gallbladder Neoplasms disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:gallbladder PMID:18665467|REF_RGD_ID:2325743 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:24436993|REF_RGD_ID:8657106 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:730821 D RGD:9068941 20200609 RGD associated with Carcinoma, Ductal, Breast PMID:23280016|REF_RGD_ID:8655998 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD associated with Tongue Neoplasms PMID:23107277|REF_RGD_ID:8547824 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9000099 Experimental Colitis treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:23323009|REF_RGD_ID:13207328 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9000113 Pneumococcal Meningitis treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:24419461|REF_RGD_ID:8657111 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:22475348|REF_RGD_ID:8657107 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9000784 Fibrosis ISO RGD:621316 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:20108118|REF_RGD_ID:2325790 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9000918 Disease Progression ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22321834 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9000955 Acute Otitis Media ISO RGD:730822 D RGD:9068941 20210611 RGD mRNA:increased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:621316 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Animal;protein:increased expression:brain PMID:16158251|REF_RGD_ID:8547884 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16475674|PMID:18398872|PMID:21209944|PMID:22321834|PMID:23707804|PMID:30603057 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730821 D RGD:9068941 20200609 RGD associated with Gallbladder Neoplasms; protein:increased expression:gallbladder PMID:18665467|REF_RGD_ID:2325743 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD associated with pancreatic cancer; protein:increased expression, increased activity:pancreas PMID:12173379|REF_RGD_ID:2325749 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9001004 Chronic Periodontitis ISO RGD:730821 D RGD:9068941 20200609 RGD mRNA:increased expression:gingival tissues PMID:21382035|REF_RGD_ID:6480655 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9001004 Chronic Periodontitis treatment ISO RGD:621316 D RGD:9068941 20200609 RGD associated with Atherosclerosis PMID:24820783|REF_RGD_ID:13207324 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:25314292|REF_RGD_ID:13207327 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:21666238|REF_RGD_ID:8657062 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9001472 Nasal Polyps ISO RGD:730821 D RGD:9068941 20200609 RGD associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa PMID:23064462|REF_RGD_ID:8549735 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9001472 Nasal Polyps treatment ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:21305560|REF_RGD_ID:8656001 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15095483|PMID:25380136 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:19528495|REF_RGD_ID:2325736 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:liver PMID:19539802|REF_RGD_ID:2325734 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30603057 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:621316 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23384615|REF_RGD_ID:13204971 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9002221 Hyperplasia ISO RGD:621316 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19726059|REF_RGD_ID:2325718 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28157488 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:730821 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1306C>T (human) PMID:17367869|REF_RGD_ID:13204803 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17440987 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9002484 Maxillary Diseases ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19070762 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9002514 Neointima ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17964422 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9002514 Neointima treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:23344254|REF_RGD_ID:13207403 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9002522 Embolism ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:15920147|REF_RGD_ID:1582578 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10698078 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:730821 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-735C>T PMID:18424416|REF_RGD_ID:2298519 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:19922364|REF_RGD_ID:2325703 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9002906 Multiple Organ Failure ISO RGD:730822 D RGD:9068941 20200609 RGD protein:increased activity:liver, spleen (mouse) PMID:15259001|REF_RGD_ID:7207133 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9003036 Oral Lichen Planus ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:22554030|REF_RGD_ID:8656000 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9003230 Graft Occlusion, Vascular ISO RGD:730822 D RGD:9068941 20200609 RGD associated with Renal Insufficiency; mRNA:increased expression:arteriovenous fistula (mouse) PMID:20598569|REF_RGD_ID:7207202 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:16619570|REF_RGD_ID:2290402 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22321834 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa: PMID:19786210|REF_RGD_ID:5130872 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased activity:urine (human) PMID:17898039|REF_RGD_ID:7207083 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:730822 D RGD:9068941 20200609 RGD protein:increased activity:brain PMID:15364410|REF_RGD_ID:8547868 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9003871 Venous Thrombosis ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:16171603|PMID:20515599|REF_RGD_ID:1582570|REF_RGD_ID:2325775 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9003936 Cardiomegaly ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:16327176|REF_RGD_ID:1582627 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9004080 Aortic Rupture ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18178469 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9004389 Bone Neoplasms ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16475674 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9004484 Sepsis treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:23479197|REF_RGD_ID:8657110 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730821 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:18398872|PMID:19770485|PMID:22321834|PMID:23707804|PMID:34278709 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9004610 Acute Lung Injury ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:23040778|REF_RGD_ID:13207316 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:621316 D RGD:9068941 20200609 RGD associated with Hypertension, Renovascular PMID:23073243|REF_RGD_ID:8657108 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9004657 Weight Gain ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25322899 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9005147 Hydatidiform Mole ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:syncytiotrophoblast cell PMID:16884384|REF_RGD_ID:2290363 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9005175 Ulcer ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:16934674|REF_RGD_ID:1582595 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9005175 Ulcer ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:12452868|REF_RGD_ID:1582583 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17607721 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:621316 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland PMID:19725228|REF_RGD_ID:2325823 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28574600 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:23359979|REF_RGD_ID:8657038 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9005372 Inflammation ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24795235 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9005605 Arteriovenous Fistula ISO RGD:621316 D RGD:9068941 20200609 RGD protein:increased expression:ileal vein PMID:17398390|REF_RGD_ID:1642040 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9005605 Arteriovenous Fistula treatment ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:23924957|REF_RGD_ID:13204800 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21963884 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9006081 Osteolysis ISO RGD:730821 D RGD:9068941 20200609 RGD OMIM:277950, Winchester syndrome PMID:16542393|REF_RGD_ID:1601416 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:621316 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary; protein:increased expression:heart PMID:17913382|REF_RGD_ID:5130174 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9006182 Carotid Artery Injuries ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:9327785|REF_RGD_ID:8547910 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9006309 Mandibular Diseases ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19070762 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9006569 Osteolysis Hereditary Multicentric ISO RGD:730821 D RGD:7240710 20180130 OMIM 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9006569 Osteolysis Hereditary Multicentric ISO RGD:730821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders | ClinVar Annotator: match by term: Multicentric osteolysis, nodulosis, and arthropathy | ClinVar Annotator: match by term: Osteolysis, hereditary multicentric PMID:10356396|PMID:11431697|PMID:15691365|PMID:16458924|PMID:16542393|PMID:17059372|PMID:17576681|PMID:19019335|PMID:20617897|PMID:20673868|PMID:21421877|PMID:23313298|PMID:23378725|PMID:25600631|PMID:25704319|PMID:25741868|PMID:2625626|PMID:27182040|PMID:28492532|PMID:6525336|PMID:9536098 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (rat) PMID:9175058|REF_RGD_ID:4144855 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9007096 Stroke ISO RGD:621316 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:19840223|REF_RGD_ID:2325713 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9007096 Stroke ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:16599837|REF_RGD_ID:1582617 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15763341 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9007480 Hyperoxia ISO RGD:621316 D RGD:9068941 20200609 RGD protein:decreased expression, decreased activity:lung PMID:15128910|REF_RGD_ID:8547972 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9007590 Gouty Arthritis severity ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:14687896|REF_RGD_ID:8547877 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:17009991|REF_RGD_ID:2290360 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:16699069|REF_RGD_ID:1582614 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:23889688|REF_RGD_ID:8657084 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9007871 Malignant Pleural Effusions ISO RGD:730821 D RGD:9068941 20200609 RGD associated with pleurisy; protein:decreased activity:pleura PMID:17611666|REF_RGD_ID:5130711 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9007889 Nephrogenic Fibrosing Dermopathy ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:skin (human) PMID:20708474|REF_RGD_ID:7207047 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9007971 Nose Neoplasms ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16178123 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9008443 Colorectal Neoplasms treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:23149858|REF_RGD_ID:8657112 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9008527 Chlamydophila Infections ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:12526080|REF_RGD_ID:1582580 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9008537 Polypoidal Choroidal Vasculopathy ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:23559867|REF_RGD_ID:8547885 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17400654|PMID:17440987 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18398872|PMID:18507500 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730821 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1306C>T (human) PMID:17851253|REF_RGD_ID:8655999 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17642161|REF_RGD_ID:2290392 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:15538048|REF_RGD_ID:8547818 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:16949931|REF_RGD_ID:2290401 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9111 cutaneous leishmaniasis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21091666 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9111 cutaneous leishmaniasis treatment ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:21091666|REF_RGD_ID:8657030 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9256 colorectal cancer ISO RGD:730821 D RGD:9068941 20220421 RGD human cells in mouse model PMID:30789971|REF_RGD_ID:151893289 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9282 ocular hypertension ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:eye PMID:19575923|REF_RGD_ID:2325732 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:17320450|REF_RGD_ID:7207195 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9477 pulmonary embolism ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:16304337|REF_RGD_ID:1582630 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9675 pulmonary emphysema ISO RGD:621316 D RGD:9068941 20200609 RGD protein:increased activity:lung PMID:19897563|REF_RGD_ID:4892307 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9675 pulmonary emphysema ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25106431 12057161 MMP2 matrix metallopeptidase 2 gene DOID:9743 diabetic neuropathy ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20213226 12057177 TTC7A tetratricopeptide repeat domain 7A gene DOID:12177 common variable immunodeficiency ISO RGD:1314700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:17576681|PMID:25741868|PMID:28492532|PMID:32499645|PMID:9536098 12057177 TTC7A tetratricopeptide repeat domain 7A gene DOID:14671 multiple intestinal atresia ISO RGD:1314700 D RGD:7240710 20180130 OMIM 12057177 TTC7A tetratricopeptide repeat domain 7A gene DOID:14671 multiple intestinal atresia ISO RGD:1314700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome | ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome 1 | ClinVar Annotator: match by term: Multiple gastrointestinal atresias PMID:16199547|PMID:17576681|PMID:23423984|PMID:23830146|PMID:24033266|PMID:24266605|PMID:24292712|PMID:24417819|PMID:24448499|PMID:24931897|PMID:25174867|PMID:25326635|PMID:25534311|PMID:25587526|PMID:25741868|PMID:26193622|PMID:26938784|PMID:27418642|PMID:28492532|PMID:28808844|PMID:28930861|PMID:28936210|PMID:29174094|PMID:30443250|PMID:30553809|PMID:31787977|PMID:31814065|PMID:31980526|PMID:32499645|PMID:32531373|PMID:35627206|PMID:9536098 12057177 TTC7A tetratricopeptide repeat domain 7A gene DOID:3883 Lynch syndrome ISO RGD:1314700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12057177 TTC7A tetratricopeptide repeat domain 7A gene DOID:627 severe combined immunodeficiency ISO RGD:1314700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 12057177 TTC7A tetratricopeptide repeat domain 7A gene DOID:630 genetic disease ISO RGD:1314700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12057177 TTC7A tetratricopeptide repeat domain 7A gene DOID:8893 psoriasis ISO RGD:1314701 D RGD:9068941 20220825 MouseDO OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106 12057204 SIL1 SIL1 nucleotide exchange factor gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1605350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12057204 SIL1 SIL1 nucleotide exchange factor gene DOID:0080195 Marinesco-Sjogren syndrome ISO RGD:1605350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marinesco-Sjögren syndrome PMID:10665502|PMID:12692552|PMID:16199547|PMID:16282977|PMID:16282978|PMID:17026626|PMID:17309654|PMID:17576681|PMID:18285827|PMID:19471582|PMID:20111056|PMID:21873089|PMID:22995991|PMID:23062754|PMID:23829326|PMID:24176978|PMID:24473200|PMID:24631270|PMID:24755310|PMID:25741868|PMID:26467025|PMID:26733775|PMID:28492532|PMID:31130284|PMID:31258504|PMID:32502767|PMID:32552793|PMID:33250842|PMID:9536098 12057204 SIL1 SIL1 nucleotide exchange factor gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605350 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12057204 SIL1 SIL1 nucleotide exchange factor gene DOID:0080600 COVID-19 ISO RGD:1605350 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12057204 SIL1 SIL1 nucleotide exchange factor gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1605350 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12057204 SIL1 SIL1 nucleotide exchange factor gene DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome ISO RGD:1605350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability-short stature-overweight syndrome PMID:19471582|PMID:22995991|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31258504|PMID:33250842 12057204 SIL1 SIL1 nucleotide exchange factor gene DOID:630 genetic disease ISO RGD:1605350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12057204 SIL1 SIL1 nucleotide exchange factor gene DOID:83 cataract ISO RGD:1605350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:32581362 12057204 SIL1 SIL1 nucleotide exchange factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605350 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12057204 SIL1 SIL1 nucleotide exchange factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12057204 SIL1 SIL1 nucleotide exchange factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605350 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12057204 SIL1 SIL1 nucleotide exchange factor gene DOID:9008086 Developmental Disabilities ISO RGD:1605350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 12057204 SIL1 SIL1 nucleotide exchange factor gene DOID:9277 primary cerebellar degeneration ISO RGD:1605350 D RGD:7240710 20180130 OMIM 12057221 FSD1L fibronectin type III and SPRY domain containing 1 like gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1353389 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:17044012|PMID:17878207|PMID:18752264|PMID:28492532 12057221 FSD1L fibronectin type III and SPRY domain containing 1 like gene DOID:630 genetic disease ISO RGD:1353389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057242 ASCC3 activating signal cointegrator 1 complex subunit 3 gene DOID:0080600 COVID-19 ISO RGD:1344771 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12057242 ASCC3 activating signal cointegrator 1 complex subunit 3 gene DOID:1059 intellectual disability ISO RGD:1344771 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12057242 ASCC3 activating signal cointegrator 1 complex subunit 3 gene DOID:630 genetic disease ISO RGD:1344771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057288 TFDP2 transcription factor Dp-2 gene DOID:0080600 COVID-19 ISO RGD:1314075 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12057288 TFDP2 transcription factor Dp-2 gene DOID:1790 malignant mesothelioma ISO RGD:1314075 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12057288 TFDP2 transcription factor Dp-2 gene DOID:630 genetic disease ISO RGD:1314075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057316 PADI3 peptidyl arginine deiminase 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732756 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12057316 PADI3 peptidyl arginine deiminase 3 gene DOID:630 genetic disease ISO RGD:732756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057316 PADI3 peptidyl arginine deiminase 3 gene DOID:9000619 Uncombable Hair Syndrome 1 ISO RGD:732756 D RGD:7240710 20220601 OMIM 12057316 PADI3 peptidyl arginine deiminase 3 gene DOID:9000619 Uncombable Hair Syndrome 1 ISO RGD:732756 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Uncombable hair syndrome 1 PMID:22381266|PMID:24629392|PMID:25741868|PMID:27866708|PMID:35279260 12057316 PADI3 peptidyl arginine deiminase 3 gene DOID:9005997 Uncombable Hair Syndrome ISO RGD:732756 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism 12057316 PADI3 peptidyl arginine deiminase 3 gene DOID:9007442 Central Centrifugal Cicatricial Alopecia ISO RGD:732756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central centrifugal cicatricial alopecia PMID:30763140 12057336 FAM134B reticulophagy regulator 1 gene DOID:9003855 Vesicoureteral Reflux 5 IAGP D RGD:12801476 20210818 OMIA Neuropathy, sensory, RETREG1-related PMID:15971901|PMID:16266014|PMID:27527794|PMID:30307654|PMID:30955094|PMID:23123885|PMID:34387380|PMID:6295050 12057336 RETREG1 reticulophagy regulator 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1601869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838196 12057336 RETREG1 reticulophagy regulator 1 gene DOID:0070150 hereditary sensory and autonomic neuropathy type 2B ISO RGD:1601869 D RGD:7240710 20180130 OMIM 12057336 RETREG1 reticulophagy regulator 1 gene DOID:0070150 hereditary sensory and autonomic neuropathy type 2B ISO RGD:1601869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2B PMID:17576681|PMID:19838196|PMID:24327336|PMID:25741868|PMID:28492532|PMID:9536098 12057336 RETREG1 reticulophagy regulator 1 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1601869 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:25741868|PMID:28492532 12057336 RETREG1 reticulophagy regulator 1 gene DOID:0070161 hereditary sensory and autonomic neuropathy type 2 ISO RGD:1601869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 2 PMID:25741868|PMID:28492532 12057336 RETREG1 reticulophagy regulator 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1601869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:19838196|PMID:24327336|PMID:25741868|PMID:28492532 12057336 RETREG1 reticulophagy regulator 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1601869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868 12057336 RETREG1 reticulophagy regulator 1 gene DOID:630 genetic disease ISO RGD:1601869 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19838196|PMID:25741868|PMID:28492532 12057336 RETREG1 reticulophagy regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12057354 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:0050572 cone-rod dystrophy ISO RGD:1345435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868 12057354 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:0110731 neuronal ceroid lipofuscinosis 3 ISO RGD:1345435 D RGD:7240710 20180130 OMIM 12057354 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:0110731 neuronal ceroid lipofuscinosis 3 ISO RGD:1345435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CLN3-Related Neuronal Ceroid-Lipofuscinosis | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 3, protracted | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 3 | ClinVar Annotator: match by term: Spielmeyer Sjogren disease PMID:10332042|PMID:10749980|PMID:10924275|PMID:11339651|PMID:11589014|PMID:12189165|PMID:14699076|PMID:16199547|PMID:16291725|PMID:17475770|PMID:17576681|PMID:17868323|PMID:17947292|PMID:18414213|PMID:19132115|PMID:19135632|PMID:19489875|PMID:20187884|PMID:20301601|PMID:21228398|PMID:21499717|PMID:21990111|PMID:22013180|PMID:22545070|PMID:22748208|PMID:23142271|PMID:23374165|PMID:23539563|PMID:23847139|PMID:24154662|PMID:24271013|PMID:24625443|PMID:24827497|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26467025|PMID:26633542|PMID:26766544|PMID:27104957|PMID:27290639|PMID:27486012|PMID:27843123|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28542676|PMID:28559085|PMID:29049447|PMID:29053603|PMID:29343940|PMID:29753273|PMID:30446867|PMID:30769084|PMID:31568712|PMID:31736247|PMID:32037395|PMID:32154056|PMID:32441891|PMID:32581362|PMID:32685355|PMID:33497524|PMID:33507216|PMID:33921607|PMID:7553855|PMID:7887420|PMID:9004140|PMID:9311735|PMID:9392580|PMID:9450775|PMID:9536098|PMID:9618513|PMID:9932957 12057354 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:0111446 progressive myoclonus epilepsy 3 ISO RGD:1345435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 PMID:25741868|PMID:28492532 12057354 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:10584 retinitis pigmentosa ISO RGD:1345435 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10332042|PMID:17576681|PMID:17947292|PMID:19132115|PMID:21990111|PMID:22013180|PMID:24154662|PMID:25741868|PMID:26766544|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28542676|PMID:28559085|PMID:29049447|PMID:31568712|PMID:32581362|PMID:32685355|PMID:33507216|PMID:7553855|PMID:9311735|PMID:9536098 12057354 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:1059 intellectual disability ISO RGD:1345435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:33507216 12057354 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1345435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10332042|PMID:10749980|PMID:10924275|PMID:11339651|PMID:11589014|PMID:12189165|PMID:15818814|PMID:16199547|PMID:16291725|PMID:17475770|PMID:17576681|PMID:17868323|PMID:17947292|PMID:18414213|PMID:19132115|PMID:19135632|PMID:19489875|PMID:20187884|PMID:21228398|PMID:21499717|PMID:21990111|PMID:22013180|PMID:22545070|PMID:22748208|PMID:23142271|PMID:23374165|PMID:23539563|PMID:23847139|PMID:24154662|PMID:24271013|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26467025|PMID:26633542|PMID:26766544|PMID:27104957|PMID:27290639|PMID:27486012|PMID:27533158|PMID:27843123|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28542676|PMID:28559085|PMID:29049447|PMID:29053603|PMID:29343940|PMID:29753273|PMID:30446867|PMID:30769084|PMID:31568712|PMID:31736247|PMID:32037395|PMID:32154056|PMID:32441891|PMID:32581362|PMID:32631363|PMID:32685355|PMID:33497524|PMID:33507216|PMID:33921607|PMID:7553855|PMID:9311735|PMID:9450775|PMID:9536098|PMID:9618513|PMID:9932957 12057354 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:1826 epilepsy ISO RGD:1345435 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26467025|PMID:28492532|PMID:32037395 12057354 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:5419 schizophrenia ISO RGD:1345435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12057354 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:630 genetic disease ISO RGD:1345435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10332042|PMID:16199547|PMID:16291725|PMID:17576681|PMID:18414213|PMID:19132115|PMID:19135632|PMID:21499717|PMID:21990111|PMID:22013180|PMID:22545070|PMID:23142271|PMID:24154662|PMID:24271013|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27290639|PMID:27486012|PMID:27843123|PMID:28492532|PMID:28542676|PMID:31568712|PMID:32037395|PMID:9311735|PMID:9450775|PMID:9536098 12057354 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:8501 fundus dystrophy ISO RGD:1345435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10332042|PMID:16291725|PMID:18414213|PMID:19132115|PMID:19135632|PMID:21499717|PMID:21990111|PMID:22545070|PMID:24154662|PMID:25741868|PMID:26766544|PMID:27486012|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28542676|PMID:28559085|PMID:29049447|PMID:32581362|PMID:32685355|PMID:33507216|PMID:9311735|PMID:9450775 12057354 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:891 progressive myoclonus epilepsy ISO RGD:1345435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive PMID:25741868|PMID:26467025|PMID:27843123|PMID:28041643|PMID:28492532|PMID:28542676 12057354 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:891 progressive myoclonus epilepsy ISO RGD:1345435 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive PMID:17576681|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28041643|PMID:28492532|PMID:28542676|PMID:9536098 12057354 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:9000217 Stomach Neoplasms ISO RGD:1345435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12057354 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:9000918 Disease Progression ISO RGD:1345435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12057381 MRPL28 mitochondrial ribosomal protein L28 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1349308 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12057381 MRPL28 mitochondrial ribosomal protein L28 gene DOID:13501 Moebius syndrome ISO RGD:1349308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 12057381 MRPL28 mitochondrial ribosomal protein L28 gene DOID:1826 epilepsy ISO RGD:1349308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 12057381 MRPL28 mitochondrial ribosomal protein L28 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1349308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12057381 MRPL28 mitochondrial ribosomal protein L28 gene DOID:630 genetic disease ISO RGD:1349308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057390 PBX3 PBX homeobox 3 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1316248 D RGD:9068941 20220902 RGD RNA:increased expression:esophagus squamous epithelium (human) PMID:32449803|REF_RGD_ID:153345544 12057390 PBX3 PBX homeobox 3 gene DOID:630 genetic disease ISO RGD:1316248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057390 PBX3 PBX homeobox 3 gene DOID:9008565 Congenital Heart Defects, Multiple Types ISO RGD:1316248 D RGD:9068941 20221027 RGD DNA:missense mutation:CDS:pAla136Val (human) PMID:22426282|REF_RGD_ID:155630639 12057403 SLC1A4 solute carrier family 1 member 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1345199 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12057403 SLC1A4 solute carrier family 1 member 4 gene DOID:10907 microcephaly ISO RGD:1345199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12057403 SLC1A4 solute carrier family 1 member 4 gene DOID:630 genetic disease ISO RGD:1345199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26041762|PMID:27193218|PMID:2837306|PMID:28492532|PMID:34174466 12057403 SLC1A4 solute carrier family 1 member 4 gene DOID:9004845 Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly ISO RGD:1345199 D RGD:7240710 20180130 OMIM 12057403 SLC1A4 solute carrier family 1 member 4 gene DOID:9004845 Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly ISO RGD:1345199 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly PMID:25741868|PMID:25930971|PMID:26041762|PMID:26138499|PMID:27193218|PMID:27848944|PMID:2837306|PMID:28492532|PMID:29989513|PMID:30125339|PMID:32404165|PMID:34174466 12057415 COL19A1 collagen type XIX alpha 1 chain gene DOID:0050717 methylmalonic aciduria and homocystinuria type cblF ISO RGD:1318965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF PMID:19136951|PMID:21303734|PMID:28492532 12057415 COL19A1 collagen type XIX alpha 1 chain gene DOID:14330 Parkinson's disease ISO RGD:1318965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 12057415 COL19A1 collagen type XIX alpha 1 chain gene DOID:630 genetic disease ISO RGD:1318965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057479 GTF3C6 general transcription factor IIIC subunit 6 gene DOID:630 genetic disease ISO RGD:1316627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057492 ABCB8 ATP binding cassette subfamily B member 8 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1316973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 12057492 ABCB8 ATP binding cassette subfamily B member 8 gene DOID:2843 long QT syndrome ISO RGD:1316973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 12057492 ABCB8 ATP binding cassette subfamily B member 8 gene DOID:630 genetic disease ISO RGD:1316973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057492 ABCB8 ATP binding cassette subfamily B member 8 gene DOID:9002801 Recurrence ISO RGD:1316973 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 12057492 ABCB8 ATP binding cassette subfamily B member 8 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1316973 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 12057518 SSUH2 ssu-2 homolog gene DOID:0050700 cardiomyopathy ISO RGD:1603044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:17897828|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26467025|PMID:27066573|PMID:27312022|PMID:27854218|PMID:28492532 12057518 SSUH2 ssu-2 homolog gene DOID:0060255 rippling muscle disease 2 ISO RGD:1603044 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rippling muscle disease 2 PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801 12057518 SSUH2 ssu-2 homolog gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1603044 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801 12057518 SSUH2 ssu-2 homolog gene DOID:0110650 long QT syndrome 9 ISO RGD:1603044 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 9 PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801 12057518 SSUH2 ssu-2 homolog gene DOID:0111191 distal muscular dystrophy Tateyama type ISO RGD:1603044 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Distal myopathy, Tateyama type PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801 12057518 SSUH2 ssu-2 homolog gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1603044 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801 12057518 SSUH2 ssu-2 homolog gene DOID:2843 long QT syndrome ISO RGD:1603044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12082049|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:14672715|PMID:15314133|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:16730439|PMID:17537631|PMID:17556197|PMID:17576681|PMID:17897828|PMID:18487559|PMID:18583131|PMID:18606002|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21294223|PMID:21404291|PMID:21610159|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26132555|PMID:26159999|PMID:26185955|PMID:26467025|PMID:27061274|PMID:27066573|PMID:27312022|PMID:27854218|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801|PMID:9536098 12057518 SSUH2 ssu-2 homolog gene DOID:2843 long QT syndrome ISO RGD:1603044 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801 12057518 SSUH2 ssu-2 homolog gene DOID:630 genetic disease ISO RGD:1603044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057518 SSUH2 ssu-2 homolog gene DOID:701 dentin dysplasia ISO RGD:1557646 D RGD:9068941 20220825 MouseDO OMIM:125400 | OMIM:125420 12057518 SSUH2 ssu-2 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12057518 SSUH2 ssu-2 homolog gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1603044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12057537 UNC13A unc-13 homolog A gene DOID:0050753 cerebellar ataxia ISO RGD:1345956 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:28192369 12057537 UNC13A unc-13 homolog A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1345956 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:25741868 12057537 UNC13A unc-13 homolog A gene DOID:1059 intellectual disability ISO RGD:1345956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12057537 UNC13A unc-13 homolog A gene DOID:12849 autistic disorder ISO RGD:1345956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12057537 UNC13A unc-13 homolog A gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1345956 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:27790088 12057537 UNC13A unc-13 homolog A gene DOID:332 amyotrophic lateral sclerosis no_association ISO RGD:1345956 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs12608932 (human) PMID:20385924|REF_RGD_ID:5686382 12057537 UNC13A unc-13 homolog A gene DOID:630 genetic disease ISO RGD:1345956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12057537 UNC13A unc-13 homolog A gene DOID:9002231 Fetal Growth Retardation ISO RGD:619722 D RGD:9068941 20200609 RGD PMID:18787382|REF_RGD_ID:5686390 12057537 UNC13A unc-13 homolog A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12057581 KLHL1 kelch like family member 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1316652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12057581 KLHL1 kelch like family member 1 gene DOID:630 genetic disease ISO RGD:1316652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057595 LOC486692 NKG2-A/NKG2-B type II integral membrane protein-like gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1349370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 12057595 LOC486692 NKG2-A/NKG2-B type II integral membrane protein-like gene DOID:630 genetic disease ISO RGD:1349370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057610 ANKRD2 ankyrin repeat domain 2 gene DOID:630 genetic disease ISO RGD:1312939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057624 MRPS33 mitochondrial ribosomal protein S33 gene DOID:0080690 RASopathy ISO RGD:1319435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12057624 MRPS33 mitochondrial ribosomal protein S33 gene DOID:3312 bipolar disorder ISO RGD:1319435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12057624 MRPS33 mitochondrial ribosomal protein S33 gene DOID:630 genetic disease ISO RGD:1319435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057635 TADA2B transcriptional adaptor 2B gene DOID:630 genetic disease ISO RGD:2979550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057641 SEL1L3 SEL1L family member 3 gene DOID:630 genetic disease ISO RGD:1604048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057677 TAS1R3 taste 1 receptor member 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1344836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12057677 TAS1R3 taste 1 receptor member 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1344836 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12057677 TAS1R3 taste 1 receptor member 3 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1344836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12057677 TAS1R3 taste 1 receptor member 3 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1344836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12057677 TAS1R3 taste 1 receptor member 3 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1344836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12057677 TAS1R3 taste 1 receptor member 3 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1344836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12057677 TAS1R3 taste 1 receptor member 3 gene DOID:0111934 immunodeficiency 38 ISO RGD:1344836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12057677 TAS1R3 taste 1 receptor member 3 gene DOID:0111935 immunodeficiency 16 ISO RGD:1344836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12057677 TAS1R3 taste 1 receptor member 3 gene DOID:12336 male infertility ISO RGD:1344836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23818598 12057677 TAS1R3 taste 1 receptor member 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12057677 TAS1R3 taste 1 receptor member 3 gene DOID:630 genetic disease ISO RGD:1344836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057677 TAS1R3 taste 1 receptor member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12057677 TAS1R3 taste 1 receptor member 3 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1344836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12057677 TAS1R3 taste 1 receptor member 3 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1344836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12057685 SH2B2 SH2B adaptor protein 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12057685 SH2B2 SH2B adaptor protein 2 gene DOID:630 genetic disease ISO RGD:736917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057704 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:0060019 coronin-1A deficiency ISO RGD:1606780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12057704 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12057704 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1606780 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12057704 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1606780 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12057704 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1606780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23077026|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532|PMID:30980674 12057704 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1606780 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12057704 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:12849 autistic disorder ISO RGD:1606780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12057704 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:1882 atrial heart septal defect ISO RGD:1606780 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12057704 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1606780 D RGD:9068941 20220826 RGD mRNA, protein:decreased expression:esophagus (human) PMID:33833989|REF_RGD_ID:153344568 12057704 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:5419 schizophrenia ISO RGD:1606780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12057704 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:630 genetic disease ISO RGD:1606780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057704 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1606780 D RGD:9068941 20220826 RGD protein:decreased expression:esophagus (human) PMID:33833989|REF_RGD_ID:153344568 12057704 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:9003268 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal ISO RGD:1606780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: lethal neurodevelopmental disorder PMID:25741868|PMID:34585832 12057704 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12057704 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1606780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12057704 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1606780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12057704 PAGR1 PAXIP1 associated glutamate rich protein 1 gene DOID:9009121 lung metastasis ISO RGD:1606780 D RGD:9068941 20220826 RGD human cells in mouse model PMID:33833989|REF_RGD_ID:153344568 12057711 KLHDC1 kelch domain containing 1 gene DOID:630 genetic disease ISO RGD:1317857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057711 KLHDC1 kelch domain containing 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1317857 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12057731 TSC22D3 TSC22 domain family member 3 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1605734 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 12057731 TSC22D3 TSC22 domain family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12057731 TSC22D3 TSC22 domain family member 3 gene DOID:0080600 COVID-19 ISO RGD:1605734 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12057731 TSC22D3 TSC22 domain family member 3 gene DOID:12336 male infertility ISO RGD:1605734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22556341 12057731 TSC22D3 TSC22 domain family member 3 gene DOID:12849 autistic disorder ISO RGD:1605734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12057731 TSC22D3 TSC22 domain family member 3 gene DOID:2018 hyperinsulinism ISO RGD:1605734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22556341 12057731 TSC22D3 TSC22 domain family member 3 gene DOID:2519 testicular disease ISO RGD:1605734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22556341 12057731 TSC22D3 TSC22 domain family member 3 gene DOID:630 genetic disease ISO RGD:1605734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057731 TSC22D3 TSC22 domain family member 3 gene DOID:9001981 Weight Loss ISO RGD:1605734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22556341 12057754 UTP14A UTP14A small subunit processome component gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12057754 UTP14A UTP14A small subunit processome component gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1347961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:24357419|PMID:28492532 12057754 UTP14A UTP14A small subunit processome component gene DOID:12849 autistic disorder ISO RGD:1347961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12057754 UTP14A UTP14A small subunit processome component gene DOID:630 genetic disease ISO RGD:1347961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057773 QKI QKI, KH domain containing RNA binding gene DOID:3070 high grade glioma ISO RGD:1319346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26829751 12057773 QKI QKI, KH domain containing RNA binding gene DOID:3213 demyelinating disease ISO RGD:1319346 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:16245024 12057773 QKI QKI, KH domain containing RNA binding gene DOID:630 genetic disease ISO RGD:1319346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057773 QKI QKI, KH domain containing RNA binding gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1584886 D RGD:9068941 20200609 RGD PMID:22740327|REF_RGD_ID:10045997 12057787 MAFG MAF bZIP transcription factor G gene DOID:0080600 COVID-19 ISO RGD:1352039 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12057787 MAFG MAF bZIP transcription factor G gene DOID:1852 intrahepatic cholestasis ISO RGD:1352039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20146260 12057787 MAFG MAF bZIP transcription factor G gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1352039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12057787 MAFG MAF bZIP transcription factor G gene DOID:630 genetic disease ISO RGD:1352039 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057803 ARSB arylsulfatase B gene DOID:0060041 autism spectrum disorder ISO RGD:737370 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12057803 ARSB arylsulfatase B gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:737370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 12057803 ARSB arylsulfatase B gene DOID:10581 metachromatic leukodystrophy ISO RGD:737370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10923267|PMID:11939792|PMID:14974081|PMID:1550123|PMID:16435196|PMID:17458871|PMID:17643332|PMID:18406185|PMID:21514195|PMID:21791832|PMID:21917494|PMID:22133300|PMID:22441840|PMID:23557332|PMID:23657977|PMID:24221504|PMID:24373060|PMID:24767253|PMID:25741868|PMID:28492532|PMID:30118150|PMID:8116615|PMID:8651289 12057803 ARSB arylsulfatase B gene DOID:12800 mucopolysaccharidosis VI IAGP D RGD:12801476 20210603 OMIA Mucopolysaccharidosis VI PMID:8558492|PMID:22329490|PMID:23121383|PMID:25750448|PMID:29157190|PMID:32219101|PMID:32985704 12057803 ARSB arylsulfatase B gene DOID:12800 mucopolysaccharidosis VI ISO RGD:737370 D RGD:7240710 20180130 OMIM 12057803 ARSB arylsulfatase B gene DOID:12800 mucopolysaccharidosis VI ISO RGD:737370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, intermediate | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, mild | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, severe PMID:10036316|PMID:10206678|PMID:10738004|PMID:10923267|PMID:11668612|PMID:11802522|PMID:11939792|PMID:1301949|PMID:14974081|PMID:15000815|PMID:1550123|PMID:15603718|PMID:15979036|PMID:16199547|PMID:16435196|PMID:16949067|PMID:17161971|PMID:1718978|PMID:17458871|PMID:17576681|PMID:17643332|PMID:17672828|PMID:18406185|PMID:18486607|PMID:19259130|PMID:19763152|PMID:19968667|PMID:20143913|PMID:20307669|PMID:21514195|PMID:21791831|PMID:21791832|PMID:21813902|PMID:21917494|PMID:21930407|PMID:21996138|PMID:22133300|PMID:22406018|PMID:22441840|PMID:22971959|PMID:22976768|PMID:23023219|PMID:23430861|PMID:23458163|PMID:23557332|PMID:23633437|PMID:23657977|PMID:23855929|PMID:23949968|PMID:24033266|PMID:24053568|PMID:24107440|PMID:24221504|PMID:24243352|PMID:24262793|PMID:24373060|PMID:24677745|PMID:24767253|PMID:24798265|PMID:24875751|PMID:25190157|PMID:25640679|PMID:25654180|PMID:25741868|PMID:25797215|PMID:26287674|PMID:26450354|PMID:26609033|PMID:26909334|PMID:26910003|PMID:26937411|PMID:27797586|PMID:27826022|PMID:28492532|PMID:28552677|PMID:28649537|PMID:28858097|PMID:28884960|PMID:28914427|PMID:29202552|PMID:30083803|PMID:30118150|PMID:30524696|PMID:30809705|PMID:30982216|PMID:31009684|PMID:32075597|PMID:32860008|PMID:33163362|PMID:33673364|PMID:4974081|PMID:7733883|PMID:8116615|PMID:8125475|PMID:8144552|PMID:8541342|PMID:8651289|PMID:8723688|PMID:8752530|PMID:9536098 12057803 ARSB arylsulfatase B gene DOID:12800 mucopolysaccharidosis VI susceptibility ISO RGD:2158 D RGD:9068941 20200609 RGD PMID:8575749|REF_RGD_ID:631738 12057803 ARSB arylsulfatase B gene DOID:12800 mucopolysaccharidosis VI susceptibility ISO RGD:737370 D RGD:9068941 20200609 RGD PMID:1550123|REF_RGD_ID:1599228 12057803 ARSB arylsulfatase B gene DOID:12800 mucopolysaccharidosis VI treatment ISO RGD:2158 D RGD:9068941 20201001 RGD PMID:21887218|REF_RGD_ID:39131283 12057803 ARSB arylsulfatase B gene DOID:5419 schizophrenia ISO RGD:737370 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12057803 ARSB arylsulfatase B gene DOID:630 genetic disease ISO RGD:737370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17458871|PMID:23557332|PMID:25741868|PMID:28492532|PMID:28552677|PMID:30118150 12057803 ARSB arylsulfatase B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12057820 CPLX4 complexin 4 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1316951 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 12057820 CPLX4 complexin 4 gene DOID:0111988 immunodeficiency 12 ISO RGD:1316951 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 12057820 CPLX4 complexin 4 gene DOID:630 genetic disease ISO RGD:1316951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057827 NAT8L N-acetyltransferase 8 like gene DOID:10907 microcephaly ISO RGD:1602409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12057827 NAT8L N-acetyltransferase 8 like gene DOID:1856 cherubism ISO RGD:1602409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12057827 NAT8L N-acetyltransferase 8 like gene DOID:630 genetic disease ISO RGD:1602409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057827 NAT8L N-acetyltransferase 8 like gene DOID:9004612 N-Acetylaspartate Deficiency ISO RGD:1602409 D RGD:7240710 20180130 OMIM 12057827 NAT8L N-acetyltransferase 8 like gene DOID:9004612 N-Acetylaspartate Deficiency ISO RGD:1602409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: N-acetylaspartate deficiency PMID:19807691 12057846 CDH4 cadherin 4 gene DOID:630 genetic disease ISO RGD:1343938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057846 CDH4 cadherin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 12057846 CDH4 cadherin 4 gene DOID:9007097 Microcephaly with Simplified Gyral Pattern ISO RGD:1343938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Simplified gyral pattern PMID:29706646 12057871 MIR10B microRNA mir-10b gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1352164 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12057871 MIR10B microRNA mir-10b gene DOID:2921 glomerulonephritis ISO RGD:1352164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25758243 12057871 MIR10B microRNA mir-10b gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1352164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24447120 12057871 MIR10B microRNA mir-10b gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12057871 MIR10B microRNA mir-10b gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1352164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12057871 MIR10B microRNA mir-10b gene DOID:9008939 Breast Neoplasms ISO RGD:1352164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 12057871 MIR10B microRNA mir-10b gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12057871 MIR10B microRNA mir-10b gene DOID:9452 fatty liver disease ISO RGD:1352164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12057924 FDFT1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 12057924 FDFT1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:5062 phencyclidine abuse ISO RGD:731891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 12057924 FDFT1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:630 genetic disease ISO RGD:731891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057924 FDFT1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:731891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 12057924 FDFT1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:83 cataract ISO RGD:61834 D RGD:9068941 20200609 RGD PMID:16440058|REF_RGD_ID:1626611 12057924 FDFT1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:83 cataract ISO RGD:62125 D RGD:9068941 20200609 RGD PMID:16440058|REF_RGD_ID:1626611 12057924 FDFT1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12057924 FDFT1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 12057924 FDFT1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:9007732 Squalene Synthase Deficiency ISO RGD:731891 D RGD:7240710 20190626 OMIM 12057924 FDFT1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:9007732 Squalene Synthase Deficiency ISO RGD:731891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squalene synthase deficiency PMID:25741868|PMID:29909962|PMID:32027475 12057924 FDFT1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:9505 cannabis abuse ISO RGD:731891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 12057961 GAS2 growth arrest specific 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1348959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12057961 GAS2 growth arrest specific 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1558248 D RGD:9068941 20220825 MouseDO 12057961 GAS2 growth arrest specific 2 gene DOID:1059 intellectual disability ISO RGD:1348959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12057961 GAS2 growth arrest specific 2 gene DOID:630 genetic disease ISO RGD:1348959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12057961 GAS2 growth arrest specific 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1348959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12057976 CHN1 chimerin 1 gene DOID:0060765 autosomal dominant Robinow syndrome 2 ISO RGD:732086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 12057976 CHN1 chimerin 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:732086 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12057976 CHN1 chimerin 1 gene DOID:12557 Duane retraction syndrome ISO RGD:732086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duane retraction syndrome 12057976 CHN1 chimerin 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:732086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:25741868 12057976 CHN1 chimerin 1 gene DOID:630 genetic disease ISO RGD:732086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18653847 12057976 CHN1 chimerin 1 gene DOID:9003590 Duane Retraction Syndrome 2 ISO RGD:732086 D RGD:7240710 20200304 OMIM 12057976 CHN1 chimerin 1 gene DOID:9003590 Duane Retraction Syndrome 2 ISO RGD:732086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duane retraction syndrome 2 PMID:10577917|PMID:10942112|PMID:17197532|PMID:18653847|PMID:20535495|PMID:21555619|PMID:25741868|PMID:28492532 12057995 ATM ATM serine/threonine kinase gene DOID:0040084 Streptococcus pneumonia exacerbates ISO RGD:10199 D RGD:9068941 20210409 RGD PMID:27421701|REF_RGD_ID:126779562 12057995 ATM ATM serine/threonine kinase gene DOID:0050671 female breast cancer susceptibility ISO RGD:1606040 D RGD:9068941 20220609 RGD DNA:missense mutation:cds: (human) PMID:30303537|REF_RGD_ID:152995259 12057995 ATM ATM serine/threonine kinase gene DOID:0050746 mantle cell lymphoma ISO RGD:1606040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mantle cell lymphoma PMID:10706620|PMID:23807571|PMID:25614872|PMID:28492532 12057995 ATM ATM serine/threonine kinase gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413734 12057995 ATM ATM serine/threonine kinase gene DOID:0050753 cerebellar ataxia ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:12810666|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28488180|PMID:28492532|PMID:29909963|PMID:31050087|PMID:9887333 12057995 ATM ATM serine/threonine kinase gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1606040 D RGD:9068941 20210903 RGD protein:increased expression:mucosa of oral region (human) PMID:18288488|PMID:29928356|REF_RGD_ID:150340604|REF_RGD_ID:150340709 12057995 ATM ATM serine/threonine kinase gene DOID:0060058 lymphoma ISO RGD:1593265 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:28007901|REF_RGD_ID:12879399 12057995 ATM ATM serine/threonine kinase gene DOID:0060058 lymphoma ISO RGD:1593265 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: PMID:27895165|REF_RGD_ID:12879393 12057995 ATM ATM serine/threonine kinase gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 12057995 ATM ATM serine/threonine kinase gene DOID:0060071 pre-malignant neoplasm ISO RGD:1593265 D RGD:9068941 20200609 RGD protein:decreased expression:hepatocyte PMID:11751435|REF_RGD_ID:1599367 12057995 ATM ATM serine/threonine kinase gene DOID:0070271 Lynch syndrome 1 ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868 12057995 ATM ATM serine/threonine kinase gene DOID:0080158 herpes simplex virus keratitis ameliorates ISO RGD:10199 D RGD:9068941 20210416 RGD PMID:24370835|REF_RGD_ID:126781690 12057995 ATM ATM serine/threonine kinase gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12057995 ATM ATM serine/threonine kinase gene DOID:0081042 T-cell prolymphocytic leukemia ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: T-cell prolymphocytic leukemia PMID:10817650|PMID:11382771|PMID:11805335|PMID:11830610|PMID:12195425|PMID:12552559|PMID:16958054|PMID:17001622|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:20301790|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22529920|PMID:22585167|PMID:22649200|PMID:23807571|PMID:24088041|PMID:24733792|PMID:25186627|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26506520|PMID:26556299|PMID:26633545|PMID:26662178|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29719442|PMID:29915382|PMID:30549301|PMID:31447099|PMID:31948886|PMID:32338768|PMID:32853339|PMID:33509806|PMID:6504056|PMID:7792600|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9150358|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9463314|PMID:9537233 12057995 ATM ATM serine/threonine kinase gene DOID:10283 prostate cancer ISO RGD:1606040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532 12057995 ATM ATM serine/threonine kinase gene DOID:10534 stomach cancer ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10706620|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11298136|PMID:11756177|PMID:12149228|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:15039971|PMID:15101044|PMID:15164409|PMID:15390180|PMID:15843990|PMID:16199547|PMID:16266405|PMID:16941484|PMID:17124347|PMID:17376192|PMID:17576681|PMID:17910737|PMID:17968022|PMID:18321536|PMID:18431795|PMID:18560558|PMID:18573109|PMID:18634022|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19691550|PMID:20153123|PMID:20301790|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21792198|PMID:21933854|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22213089|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22649200|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23561644|PMID:23566627|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23807571|PMID:24172824|PMID:24368146|PMID:24405665|PMID:24789685|PMID:24935205|PMID:24954719|PMID:25037873|PMID:25077176|PMID:25122203|PMID:25186627|PMID:25303977|PMID:25374739|PMID:25525159|PMID:25614872|PMID:25625042|PMID:25741868|PMID:26022348|PMID:26094658|PMID:26098866|PMID:26270727|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26628246|PMID:26677768|PMID:26681312|PMID:26846839|PMID:26896183|PMID:27121310|PMID:27159176|PMID:27433846|PMID:27664052|PMID:27732944|PMID:27779110|PMID:27884168|PMID:27913932|PMID:27989354|PMID:28139868|PMID:28152038|PMID:28195393|PMID:28281021|PMID:28492532|PMID:28497333|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28843361|PMID:29368341|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29665859|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29906526|PMID:29909963|PMID:29922827|PMID:29946849|PMID:30093976|PMID:30287823|PMID:30322717|PMID:30402232|PMID:30549301|PMID:30607632|PMID:30620386|PMID:30697212|PMID:30772474|PMID:30816533|PMID:30982232|PMID:31050087|PMID:31118792|PMID:31139954|PMID:31214711|PMID:31263571|PMID:31447099|PMID:31472684|PMID:31589614|PMID:31611883|PMID:31691010|PMID:31784493|PMID:31794323|PMID:31843900|PMID:31948886|PMID:32002120|PMID:32068069|PMID:32338768|PMID:32427313|PMID:32471518|PMID:32521533|PMID:32566746|PMID:32694154|PMID:32754152|PMID:32810930|PMID:32885271|PMID:32918381|PMID:32980694|PMID:33280026|PMID:33436325|PMID:33471991|PMID:34873480|PMID:36988593|PMID:7792600|PMID:8698354|PMID:8755918|PMID:8808599|PMID:8845835|PMID:9334731|PMID:9443866|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9711876|PMID:9872980|PMID:9887333 12057995 ATM ATM serine/threonine kinase gene DOID:10534 stomach cancer severity ISO RGD:1606040 D RGD:9068941 20210827 RGD protein:decreased expression:mucosa of stomach (human) PMID:23649938|REF_RGD_ID:150340700 12057995 ATM ATM serine/threonine kinase gene DOID:10534 stomach cancer severity ISO RGD:1606040 D RGD:9068941 20210903 RGD protein:decreased phosphorylation:stomach (human) PMID:17928013|REF_RGD_ID:150340715 12057995 ATM ATM serine/threonine kinase gene DOID:1059 intellectual disability ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12057995 ATM ATM serine/threonine kinase gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:1606040 D RGD:9068941 20200609 RGD PMID:23861893|REF_RGD_ID:10047419 12057995 ATM ATM serine/threonine kinase gene DOID:10907 microcephaly ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:19781682|PMID:25741868|PMID:28492532|PMID:30287823|PMID:31871109|PMID:32068069|PMID:32566746 12057995 ATM ATM serine/threonine kinase gene DOID:11054 urinary bladder cancer ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121791 12057995 ATM ATM serine/threonine kinase gene DOID:11476 osteoporosis ISO RGD:10199 D RGD:9068941 20200609 RGD PMID:16644862|REF_RGD_ID:10047420 12057995 ATM ATM serine/threonine kinase gene DOID:1240 leukemia ISO RGD:1593265 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:28007901|REF_RGD_ID:12879399 12057995 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:7240710 20230517 OMIM 12057995 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601 12057995 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653 12057995 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:28423360|PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:3280694|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32958592|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411 12057995 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34453918|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34820595|PMID:34994613|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 12057995 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971 12057995 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360 12057995 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:3280694|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32958592|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313 12057995 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34453918|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34820595|PMID:34994613|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 12057995 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363 12057995 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:3280694|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32958592|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920 12057995 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34453918|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34820595|PMID:34994613|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 12057995 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601 12057995 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476 12057995 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152 12057995 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34270679|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35201558|PMID:35260754|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 12057995 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193 12057995 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368 12057995 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151 12057995 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34270679|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35145552|PMID:35186721|PMID:35201558|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 12057995 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152 12057995 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566 12057995 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388 12057995 ATM ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35145552|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 12057995 ATM ATM serine/threonine kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 12057995 ATM ATM serine/threonine kinase gene DOID:1319 brain cancer ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain cancer 12057995 ATM ATM serine/threonine kinase gene DOID:1324 lung cancer ISO RGD:1606040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:21665257 12057995 ATM ATM serine/threonine kinase gene DOID:1380 endometrial cancer susceptibility ISO RGD:1606040 D RGD:9068941 20200609 RGD PMID:17164260|REF_RGD_ID:2293868 12057995 ATM ATM serine/threonine kinase gene DOID:14330 Parkinson's disease ISO RGD:1606040 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:cingulate gyrus PMID:20502937|REF_RGD_ID:10053605 12057995 ATM ATM serine/threonine kinase gene DOID:14566 disease of cellular proliferation ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm 12057995 ATM ATM serine/threonine kinase gene DOID:14723 beta-ketothiolase deficiency ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:28492532 12057995 ATM ATM serine/threonine kinase gene DOID:1520 colon carcinoma ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:10817650|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12882767|PMID:12935933|PMID:14695997|PMID:15101044|PMID:15280931|PMID:15880721|PMID:16574953|PMID:16631465|PMID:16832357|PMID:17023046|PMID:17333338|PMID:17341484|PMID:17393301|PMID:17517479|PMID:17623063|PMID:17640065|PMID:19404735|PMID:19431188|PMID:19781682|PMID:20305132|PMID:20826828|PMID:21787400|PMID:21833744|PMID:21933854|PMID:22369572|PMID:22529920|PMID:23091097|PMID:23555315|PMID:23585524|PMID:23807571|PMID:24142997|PMID:24416720|PMID:24728327|PMID:25148578|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25523272|PMID:25587027|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26009992|PMID:26123645|PMID:26207792|PMID:26467025|PMID:26580448|PMID:26898890|PMID:26901136|PMID:27146902|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:29522266|PMID:29641532|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30613976|PMID:31159747|PMID:31415627|PMID:31742824|PMID:32522261|PMID:33471991|PMID:34262154|PMID:34646395|PMID:9792409|PMID:9887333 12057995 ATM ATM serine/threonine kinase gene DOID:1520 colon carcinoma ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10425038|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12882767|PMID:12935933|PMID:14695997|PMID:14754616|PMID:15101044|PMID:15280931|PMID:15880721|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16832357|PMID:17000706|PMID:17023046|PMID:17333338|PMID:17341484|PMID:17351744|PMID:17393301|PMID:17502119|PMID:17517479|PMID:17623063|PMID:17640065|PMID:17910737|PMID:19404735|PMID:19431188|PMID:19781682|PMID:20305132|PMID:20826828|PMID:21787400|PMID:21833744|PMID:21933854|PMID:22369572|PMID:22529920|PMID:23091097|PMID:23555315|PMID:23585524|PMID:23807571|PMID:24142997|PMID:24416720|PMID:24728327|PMID:25148578|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25523272|PMID:25587027|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26009992|PMID:26123645|PMID:26207792|PMID:26467025|PMID:26580448|PMID:26689913|PMID:26898890|PMID:26901136|PMID:27146902|PMID:27224988|PMID:27365426|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:29522266|PMID:29641532|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30613976|PMID:31159747|PMID:31415627|PMID:31742824|PMID:32522261|PMID:33191115|PMID:33471991|PMID:34262154|PMID:34646395|PMID:9792409|PMID:9887333 12057995 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:7240710 20230517 OMIM 12057995 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26854966|PMID:26878173|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087 12057995 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28188106|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30814645|PMID:30883245|PMID:30938815|PMID:30995915|PMID:31050087|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31867841|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:32039725|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32906206|PMID:32958592|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33747920|PMID:34262154|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 12057995 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26854966|PMID:26878173|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332 12057995 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28188106|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30814645|PMID:30883245|PMID:30938815|PMID:30995915|PMID:31050087|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:32039725|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32906206|PMID:32958592|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33747920|PMID:34262154|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 12057995 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160 12057995 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32906206|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34262154|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 12057995 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 12057995 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310 12057995 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 12057995 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186 12057995 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 12057995 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 12057995 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775 12057995 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 12057995 ATM ATM serine/threonine kinase gene DOID:1612 breast cancer susceptibility ISO RGD:1606040 D RGD:9068941 20230518 RGD PMID:11200774|REF_RGD_ID:1643350 12057995 ATM ATM serine/threonine kinase gene DOID:1749 squamous cell carcinoma ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25125259 12057995 ATM ATM serine/threonine kinase gene DOID:1781 thyroid gland cancer ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid cancer PMID:28492532 12057995 ATM ATM serine/threonine kinase gene DOID:1793 pancreatic cancer ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098866|PMID:26098869 12057995 ATM ATM serine/threonine kinase gene DOID:1793 pancreatic cancer ISO RGD:1606040 D RGD:9068941 20200609 RGD DNA:SNP: :60G>A(human) PMID:18381943|REF_RGD_ID:2317234 12057995 ATM ATM serine/threonine kinase gene DOID:1793 pancreatic cancer ISO RGD:1606040 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs664677 (human) PMID:16520463|REF_RGD_ID:2317367 12057995 ATM ATM serine/threonine kinase gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1606040 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs1801516(human) PMID:19147782|REF_RGD_ID:2317363 12057995 ATM ATM serine/threonine kinase gene DOID:1824 status epilepticus ISO RGD:1593265 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:11852039|REF_RGD_ID:1599366 12057995 ATM ATM serine/threonine kinase gene DOID:1909 melanoma ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983787 12057995 ATM ATM serine/threonine kinase gene DOID:219 colon cancer ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer 12057995 ATM ATM serine/threonine kinase gene DOID:2349 arteriosclerosis susceptibility ISO RGD:10199 D RGD:9068941 20200609 RGD PMID:15863839|REF_RGD_ID:1601249 12057995 ATM ATM serine/threonine kinase gene DOID:2394 ovarian cancer ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:10330348|PMID:10817650|PMID:10873394|PMID:11756185|PMID:11996792|PMID:12473594|PMID:12552559|PMID:12673797|PMID:12917204|PMID:12935922|PMID:14706517|PMID:15756685|PMID:17333338|PMID:18634022|PMID:19404735|PMID:19781682|PMID:20305132|PMID:21665257|PMID:21933854|PMID:21993670|PMID:22529920|PMID:22585167|PMID:23555315|PMID:23807571|PMID:24728327|PMID:25318351|PMID:25326635|PMID:25503501|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26094658|PMID:26155992|PMID:26270727|PMID:26467025|PMID:26530882|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26976419|PMID:27093186|PMID:27878467|PMID:27913932|PMID:28007021|PMID:28008555|PMID:28135048|PMID:28135145|PMID:28281318|PMID:28492532|PMID:28580595|PMID:28652578|PMID:28726808|PMID:28779002|PMID:29522266|PMID:29641532|PMID:29684080|PMID:30093976|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30549301|PMID:31050087|PMID:31159747|PMID:31248605|PMID:31666926|PMID:31742824|PMID:31780696|PMID:31867841|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32107087|PMID:32566746|PMID:32866190|PMID:32936981|PMID:33206719|PMID:33436325|PMID:33471991|PMID:33552952|PMID:35245693|PMID:35264596|PMID:8659541|PMID:9443866|PMID:9463314|PMID:9872980 12057995 ATM ATM serine/threonine kinase gene DOID:2871 endometrial carcinoma ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10425038|PMID:11298136|PMID:12673797|PMID:12810666|PMID:12815592|PMID:1300551|PMID:133608|PMID:19781682|PMID:21787400|PMID:23322442|PMID:23555315|PMID:23807571|PMID:24728327|PMID:25186627|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26787654|PMID:26837699|PMID:27443514|PMID:28492532|PMID:29486991|PMID:29659569|PMID:30651582|PMID:31050087|PMID:31159747|PMID:31206626|PMID:31611883|PMID:31920950|PMID:33280026|PMID:33436325|PMID:33558524|PMID:34204722|PMID:8845835|PMID:8968760 12057995 ATM ATM serine/threonine kinase gene DOID:299 adenocarcinoma ISO RGD:1606040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma PMID:10330348|PMID:10817650|PMID:10980530|PMID:12810666|PMID:15390180|PMID:16266405|PMID:17576681|PMID:20153123|PMID:22585167|PMID:25614872|PMID:25741868|PMID:26506520|PMID:27159176|PMID:28492532|PMID:36988593|PMID:9536098|PMID:9887333 12057995 ATM ATM serine/threonine kinase gene DOID:3068 glioblastoma ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:19781682|PMID:23322442|PMID:25525159|PMID:25741868|PMID:26467025|PMID:9054948 12057995 ATM ATM serine/threonine kinase gene DOID:3070 high grade glioma ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant glioma PMID:10330348|PMID:10817650|PMID:10980530|PMID:11298136|PMID:21445571|PMID:21459046|PMID:21792198|PMID:25741868|PMID:26681312|PMID:28492532|PMID:29478780|PMID:30549301|PMID:33471991|PMID:8659541|PMID:8808599|PMID:9000145|PMID:9463314 12057995 ATM ATM serine/threonine kinase gene DOID:3459 breast carcinoma ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast | ClinVar Annotator: match by term: Multifocal breast carcinoma PMID:10330348|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11606401|PMID:11805335|PMID:12810666|PMID:12815592|PMID:15039971|PMID:15279808|PMID:15390180|PMID:16014569|PMID:16266405|PMID:16832357|PMID:16864838|PMID:17124347|PMID:17344846|PMID:17576681|PMID:18384426|PMID:18634022|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19691550|PMID:20153123|PMID:20301790|PMID:21354641|PMID:21445571|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:21965147|PMID:22146522|PMID:22213089|PMID:22529920|PMID:22585167|PMID:23264026|PMID:23585524|PMID:23807571|PMID:25077176|PMID:25122203|PMID:25479140|PMID:2557216|PMID:25572163|PMID:25614872|PMID:25741868|PMID:25957637|PMID:25980754|PMID:26467025|PMID:26506520|PMID:26681312|PMID:26787654|PMID:26837699|PMID:26976419|PMID:27159176|PMID:27433846|PMID:27484032|PMID:27664052|PMID:27884168|PMID:28120234|PMID:28126470|PMID:28492532|PMID:28580595|PMID:28652578|PMID:28726808|PMID:28779002|PMID:28843361|PMID:29478780|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30549301|PMID:30579816|PMID:30819809|PMID:31050087|PMID:31159747|PMID:31741144|PMID:32658311|PMID:32854451|PMID:32957588|PMID:33280026|PMID:8755918|PMID:9463314|PMID:9536098|PMID:9622061|PMID:9887333 12057995 ATM ATM serine/threonine kinase gene DOID:3459 breast carcinoma ISO RGD:1606040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Multifocal breast carcinoma PMID:10330348|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11606401|PMID:11805335|PMID:12810666|PMID:12815592|PMID:15039971|PMID:15279808|PMID:15390180|PMID:16014569|PMID:16266405|PMID:16832357|PMID:16864838|PMID:17124347|PMID:17344846|PMID:17576681|PMID:18384426|PMID:18634022|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19691550|PMID:20153123|PMID:20301790|PMID:21354641|PMID:21445571|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:21965147|PMID:22146522|PMID:22213089|PMID:22529920|PMID:22585167|PMID:23264026|PMID:23585524|PMID:23807571|PMID:25077176|PMID:25122203|PMID:25479140|PMID:2557216|PMID:25572163|PMID:25614872|PMID:25741868|PMID:25957637|PMID:25980754|PMID:26467025|PMID:26506520|PMID:26681312|PMID:26787654|PMID:26837699|PMID:26976419|PMID:27159176|PMID:27433846|PMID:27484032|PMID:27664052|PMID:27884168|PMID:28120234|PMID:28126470|PMID:28492532|PMID:28580595|PMID:28652578|PMID:28726808|PMID:28779002|PMID:28843361|PMID:29478780|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30549301|PMID:30579816|PMID:30819809|PMID:31050087|PMID:31159747|PMID:31741144|PMID:32658311|PMID:32854451|PMID:32957588|PMID:33280026|PMID:36988593|PMID:8755918|PMID:9463314|PMID:9536098|PMID:9622061|PMID:9887333 12057995 ATM ATM serine/threonine kinase gene DOID:3459 breast carcinoma disease_progression ISO RGD:1606040 D RGD:9068941 20200609 RGD protein:decreased expression:lymph node PMID:10748873|REF_RGD_ID:1643351 12057995 ATM ATM serine/threonine kinase gene DOID:3571 liver cancer ameliorates ISO RGD:10199 D RGD:9068941 20210903 RGD PMID:19919837|REF_RGD_ID:150340702 12057995 ATM ATM serine/threonine kinase gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1606040 D RGD:9068941 20210903 RGD Smoke Inhalation Injury; mRNA:increased expression:esophagus (human) PMID:17019709|REF_RGD_ID:150340713 12057995 ATM ATM serine/threonine kinase gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1606040 D RGD:9068941 20210903 RGD DNA:SNP:intron:(rs228589) (human) PMID:28642860|REF_RGD_ID:150383339 12057995 ATM ATM serine/threonine kinase gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1606040 D RGD:9068941 20210903 RGD DNA:SNPs,haplotypes:intron: (rs227060, rs170548) (human) PMID:17582598|REF_RGD_ID:150383340 12057995 ATM ATM serine/threonine kinase gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1606040 D RGD:9068941 20210903 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 12057995 ATM ATM serine/threonine kinase gene DOID:3944 Arenaviridae infectious disease ISO RGD:10199 D RGD:9068941 20210409 RGD PMID:21641396|REF_RGD_ID:126779561 12057995 ATM ATM serine/threonine kinase gene DOID:3948 adrenocortical carcinoma ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 12057995 ATM ATM serine/threonine kinase gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Papillary thyroid carcinoma PMID:19404735|PMID:20305132|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26901136|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28717660|PMID:28779002|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30613976|PMID:31159747|PMID:31742824|PMID:32522261|PMID:33471991|PMID:34262154|PMID:34646395 12057995 ATM ATM serine/threonine kinase gene DOID:4001 ovarian carcinoma ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:10330348|PMID:10817650|PMID:16461462|PMID:17124347|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532 12057995 ATM ATM serine/threonine kinase gene DOID:4450 renal cell carcinoma ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:10571946 12057995 ATM ATM serine/threonine kinase gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:10980530|PMID:18560558|PMID:19431188|PMID:19691550|PMID:19779456|PMID:25186627|PMID:25741868|PMID:26628246|PMID:28492532|PMID:29522266|PMID:33747920|PMID:8755918|PMID:9792409 12057995 ATM ATM serine/threonine kinase gene DOID:4606 bile duct cancer ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:17124347|PMID:20077034|PMID:25741868|PMID:26635394|PMID:28492532|PMID:9887333 12057995 ATM ATM serine/threonine kinase gene DOID:4905 pancreatic carcinoma ISO RGD:1606040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:10330348|PMID:10817650|PMID:10980530|PMID:12497634|PMID:12673797|PMID:12810666|PMID:14586414|PMID:14970866|PMID:15101044|PMID:15390180|PMID:16266405|PMID:17576681|PMID:1849795|PMID:18497957|PMID:20153123|PMID:21833744|PMID:22585167|PMID:23454770|PMID:23807571|PMID:24556621|PMID:25614872|PMID:25741868|PMID:26483394|PMID:26506520|PMID:26822949|PMID:27159176|PMID:28492532|PMID:32295079|PMID:3338800|PMID:36988593|PMID:8808599|PMID:9443866|PMID:9536098|PMID:9887333 12057995 ATM ATM serine/threonine kinase gene DOID:5082 liver cirrhosis ISO RGD:1606040 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:36526012 12057995 ATM ATM serine/threonine kinase gene DOID:5223 infertility ISO RGD:1593265 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:28007901|REF_RGD_ID:12879399 12057995 ATM ATM serine/threonine kinase gene DOID:5223 infertility ISO RGD:1593265 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: PMID:27895165|REF_RGD_ID:12879393 12057995 ATM ATM serine/threonine kinase gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1606040 D RGD:9068941 20210430 RGD protein:decreased expression:T cell (human) PMID:31781094|REF_RGD_ID:126790561 12057995 ATM ATM serine/threonine kinase gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:1606040 D RGD:9068941 20210903 RGD DNA:SNP:intron:(rs227060) (human) PMID:28642860|REF_RGD_ID:150383339 12057995 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11996792|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24451234|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25148578|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176 12057995 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:30541756|PMID:30549301|PMID:30553997|PMID:30819809|PMID:30851086|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31422574|PMID:31428572|PMID:31666926|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32295079|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32866190|PMID:32958592|PMID:32986223|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33436325|PMID:33471991|PMID:33606809|PMID:33630411|PMID:34204722|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 12057995 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24451234|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460 12057995 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28492532|PMID:28503720|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30819809|PMID:30851086|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33747920|PMID:33850299|PMID:34204722|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 12057995 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326637|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476 12057995 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28451460|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30819809|PMID:30851086|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34204722|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 12057995 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30772474|PMID:30819809|PMID:30851086|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34204722|PMID:34359559|PMID:34646395|PMID:34994613|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 12057995 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393 12057995 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30772474|PMID:30819809|PMID:30851086|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34204722|PMID:34262154|PMID:34359559|PMID:34646395|PMID:34994613|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 12057995 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063 12057995 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30772474|PMID:30819809|PMID:30851086|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34204722|PMID:34262154|PMID:34359559|PMID:34646395|PMID:34994613|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 12057995 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27989354 12057995 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34994613|PMID:35534218|PMID:35666082|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 12057995 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326637|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426 12057995 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34994613|PMID:35039564|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 12057995 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234 12057995 ATM ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34994613|PMID:35039564|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:35892882|PMID:35893033|PMID:36200007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 12057995 ATM ATM serine/threonine kinase gene DOID:5750 endometrial serous adenocarcinoma ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial serous adenocarcinoma 12057995 ATM ATM serine/threonine kinase gene DOID:5844 myocardial infarction ISO RGD:10199 D RGD:9068941 20200609 RGD PMID:24358288|REF_RGD_ID:10053570 12057995 ATM ATM serine/threonine kinase gene DOID:5844 myocardial infarction ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 12057995 ATM ATM serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1606040 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20305132|PMID:25356970|PMID:25741868|PMID:25980754|PMID:26053404|PMID:28492532|PMID:28652578|PMID:28779002|PMID:29778231|PMID:33471991 12057995 ATM ATM serine/threonine kinase gene DOID:6741 bilateral breast cancer ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral breast carcinoma PMID:19781682|PMID:25741868|PMID:26689913|PMID:26787654|PMID:28492532|PMID:31159747|PMID:31206626|PMID:32283892|PMID:33471991 12057995 ATM ATM serine/threonine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19919837 12057995 ATM ATM serine/threonine kinase gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1606040 D RGD:9068941 20210423 RGD protein:increased expression:liver (human) PMID:12866955|REF_RGD_ID:126781750 12057995 ATM ATM serine/threonine kinase gene DOID:687 hepatoblastoma ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:11756177|PMID:16832357|PMID:17333338|PMID:19781682|PMID:20305132|PMID:21665257|PMID:24728327|PMID:25186627|PMID:25741868|PMID:26689913|PMID:26787654|PMID:26837699|PMID:27913932|PMID:28492532|PMID:29522266|PMID:30303537|PMID:31780696|PMID:33128190|PMID:33471991|PMID:34262154 12057995 ATM ATM serine/threonine kinase gene DOID:83 cataract ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16799786 12057995 ATM ATM serine/threonine kinase gene DOID:8634 prostate carcinoma in situ ISO RGD:1606040 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:prostate gland PMID:16997395|REF_RGD_ID:2293869 12057995 ATM ATM serine/threonine kinase gene DOID:8997 polycythemia vera ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycythemia rubra vera 12057995 ATM ATM serine/threonine kinase gene DOID:9000039 Spinal Cord Injuries ISO RGD:1593265 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:21748659|REF_RGD_ID:10053608 12057995 ATM ATM serine/threonine kinase gene DOID:9000099 Experimental Colitis exacerbates ISO RGD:10199 D RGD:9068941 20210423 RGD PMID:20179206|REF_RGD_ID:126781749 12057995 ATM ATM serine/threonine kinase gene DOID:9000113 Pneumococcal Meningitis ameliorates ISO RGD:10199 D RGD:9068941 20210423 RGD PMID:15529270|REF_RGD_ID:126781748 12057995 ATM ATM serine/threonine kinase gene DOID:9000217 Stomach Neoplasms ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098866 12057995 ATM ATM serine/threonine kinase gene DOID:9000371 influenza A exacerbates ISO RGD:10199 D RGD:9068941 20210409 RGD PMID:31509427|REF_RGD_ID:126779564 12057995 ATM ATM serine/threonine kinase gene DOID:9000784 Fibrosis ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 12057995 ATM ATM serine/threonine kinase gene DOID:9000808 Hypercholesterolemia susceptibility ISO RGD:10199 D RGD:9068941 20200609 RGD PMID:15863839|REF_RGD_ID:1601249 12057995 ATM ATM serine/threonine kinase gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21177254 12057995 ATM ATM serine/threonine kinase gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 12057995 ATM ATM serine/threonine kinase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17968022 12057995 ATM ATM serine/threonine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17502119|PMID:25415046|PMID:26098866|PMID:29610475 12057995 ATM ATM serine/threonine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606040 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:14983937|REF_RGD_ID:2293870 12057995 ATM ATM serine/threonine kinase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms 12057995 ATM ATM serine/threonine kinase gene DOID:9002834 Herpesviridae Infections ameliorates ISO RGD:10199 D RGD:9068941 20210416 RGD PMID:22993144|PMID:28701397|REF_RGD_ID:126781689|REF_RGD_ID:126781691 12057995 ATM ATM serine/threonine kinase gene DOID:9002928 Colonic Neoplasms ISO RGD:1606040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30482293|PMID:32658311 12057995 ATM ATM serine/threonine kinase gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma PMID:10330348|PMID:10864201|PMID:11606401|PMID:12362033|PMID:12552559|PMID:12815592|PMID:15039971|PMID:15843990|PMID:16832357|PMID:17124347|PMID:18384426|PMID:19691550|PMID:19781682|PMID:20301790|PMID:21445571|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21965147|PMID:22146522|PMID:22585167|PMID:22649200|PMID:23585524|PMID:23807571|PMID:24416720|PMID:25077176|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26023681|PMID:26467025|PMID:26667234|PMID:26681312|PMID:26976419|PMID:27034805|PMID:27433846|PMID:27484032|PMID:27664052|PMID:27884168|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28779002|PMID:29641532|PMID:30549301|PMID:31882575|PMID:32566746|PMID:32853339|PMID:32885271|PMID:33280026|PMID:33471991|PMID:8755918|PMID:9443866|PMID:9463314|PMID:9887333 12057995 ATM ATM serine/threonine kinase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12057995 ATM ATM serine/threonine kinase gene DOID:9004484 Sepsis treatment ISO RGD:10199 D RGD:9068941 20210423 RGD PMID:24184056|REF_RGD_ID:126781746 12057995 ATM ATM serine/threonine kinase gene DOID:9004590 Acute Liver Failure treatment ISO RGD:10199 D RGD:9068941 20200609 RGD PMID:21224054|REF_RGD_ID:10053606 12057995 ATM ATM serine/threonine kinase gene DOID:9004590 Acute Liver Failure treatment ISO RGD:1593265 D RGD:9068941 20200609 RGD PMID:24565947|REF_RGD_ID:10053604 12057995 ATM ATM serine/threonine kinase gene DOID:9005539 Familial Prostate Cancer ISO RGD:1606040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary prostate cancer PMID:16199547|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30322717|PMID:32866655|PMID:34654685 12057995 ATM ATM serine/threonine kinase gene DOID:9005628 Ataxia-Telangiectasia Variant ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ataxia - telangiectasia variant PMID:10330348|PMID:11382771|PMID:11826028|PMID:11830610|PMID:14654357|PMID:15054841|PMID:15174027|PMID:16958054|PMID:17001622|PMID:17576681|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19535770|PMID:19781682|PMID:19823873|PMID:20301790|PMID:21787400|PMID:21792198|PMID:22345219|PMID:22529920|PMID:22585167|PMID:23143971|PMID:24088041|PMID:24733792|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25186627|PMID:25741868|PMID:25914063|PMID:25980754|PMID:26506520|PMID:26633545|PMID:26662178|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:28008555|PMID:28492532|PMID:28779002|PMID:29719442|PMID:29915382|PMID:30504431|PMID:30549301|PMID:33509806|PMID:8755918|PMID:8808599|PMID:9000145|PMID:9288106|PMID:9463314|PMID:9536098|PMID:9792410|PMID:9887333 12057995 ATM ATM serine/threonine kinase gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor disease_progression ISO RGD:1606040 D RGD:9068941 20210903 RGD associated with Neoplasm Metastasis;mRNA, protein: decreased expression:gastrointestinal system, multiple (human) PMID:22485171|REF_RGD_ID:150340716 12057995 ATM ATM serine/threonine kinase gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1593265 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:22768306|REF_RGD_ID:10053607 12057995 ATM ATM serine/threonine kinase gene DOID:9006269 Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dwarfism, low-birth-weight type, with unresponsiveness to growth hormone PMID:11443540|PMID:19781682|PMID:25741868|PMID:26467025|PMID:26689913|PMID:28492532|PMID:28779002|PMID:33471991 12057995 ATM ATM serine/threonine kinase gene DOID:9006644 Retroviridae Infections ameliorates ISO RGD:10199 D RGD:9068941 20210423 RGD PMID:15661267|REF_RGD_ID:126781747 12057995 ATM ATM serine/threonine kinase gene DOID:9006646 Metabolic Syndrome ISO RGD:10199 D RGD:9068941 20200609 RGD PMID:17084711|REF_RGD_ID:1601248 12057995 ATM ATM serine/threonine kinase gene DOID:9006815 Otorhinolaryngologic Neoplasms severity ISO RGD:1606040 D RGD:9068941 20210903 RGD mRNA:decreased expression:pharynx,larynx (human) PMID:21127011|REF_RGD_ID:150340703 12057995 ATM ATM serine/threonine kinase gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10571946 12057995 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24451234|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28188106|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191 12057995 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31719806|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32107087|PMID:32125938|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32810930|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32906206|PMID:32918381|PMID:32958592|PMID:32986223|PMID:33011440|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33747920|PMID:33850299|PMID:34204722|PMID:34262154|PMID:34299313|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 12057995 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266 12057995 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308 12057995 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145 12057995 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556 12057995 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35186721|PMID:35201558|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 12057995 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201 12057995 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075 12057995 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615 12057995 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35186721|PMID:35201558|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 12057995 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21270786|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595 12057995 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25974703|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368 12057995 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28590052|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087 12057995 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193 12057995 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075 12057995 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261 12057995 ATM ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 12057995 ATM ATM serine/threonine kinase gene DOID:9007502 Brain Neoplasms ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant brain neoplasm 12057995 ATM ATM serine/threonine kinase gene DOID:9007692 Insulin Resistance ISO RGD:1593265 D RGD:9068941 20200609 RGD protein:decreased expression:muscle: PMID:18534819|REF_RGD_ID:8693659 12057995 ATM ATM serine/threonine kinase gene DOID:9007692 Insulin Resistance treatment ISO RGD:1606040 D RGD:9068941 20210416 RGD Associated with human immunodeficiency virus infectious disease, hepatitis C;DNA:SNP:intron: (rs11212617) (human) PMID:23171036|REF_RGD_ID:126781688 12057995 ATM ATM serine/threonine kinase gene DOID:9008114 Helicobacter Infections ISO RGD:1606040 D RGD:9068941 20210430 RGD associated with gastritis;mRNA:increased expression:mucosa of stomach (human) PMID:25069978|REF_RGD_ID:126790566 12057995 ATM ATM serine/threonine kinase gene DOID:9008114 Helicobacter Infections ISO RGD:1606040 D RGD:9068941 20210430 RGD associated with stomach cancer;mRNA:increased expression:stomach (human) PMID:29128564|REF_RGD_ID:126790563 12057995 ATM ATM serine/threonine kinase gene DOID:9008257 Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal PMID:25741868|PMID:28492532 12057995 ATM ATM serine/threonine kinase gene DOID:9008603 Rhabdoviridae Infections ameliorates ISO RGD:10199 D RGD:9068941 20210430 RGD PMID:25692705|REF_RGD_ID:126790565 12057995 ATM ATM serine/threonine kinase gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:1606040 D RGD:9068941 20210903 RGD associated with lung cancer;DNA:SNPs:promoter:���111G>A,126713G>A (rs189037, s373759) (human) PMID:20171797|REF_RGD_ID:150340755 12057995 ATM ATM serine/threonine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:10817650|PMID:11382771|PMID:11805335|PMID:11830610|PMID:12195425|PMID:12552559|PMID:16958054|PMID:17001622|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:20301790|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22529920|PMID:22585167|PMID:22649200|PMID:24088041|PMID:24733792|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26506520|PMID:26556299|PMID:26633545|PMID:26662178|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29719442|PMID:29915382|PMID:30549301|PMID:31447099|PMID:31948886|PMID:32338768|PMID:32853339|PMID:33509806|PMID:6504056|PMID:7792600|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9537233 12057995 ATM ATM serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10571946|PMID:10677309|PMID:10706620|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15643608|PMID:15756685|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17344846|PMID:17351744|PMID:17376192|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18431795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19691550|PMID:19705055|PMID:19770270|PMID:19773425|PMID:19781682|PMID:19823873|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20966255|PMID:21150274|PMID:21164480|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21593342|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24204193|PMID:24325359|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24920063|PMID:24935205|PMID:24954719|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25101980|PMID:25122203|PMID:25148578|PMID:25151137|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637 12057995 ATM ATM serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27034805|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27322425|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28087566|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28282032|PMID:28338653|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29101607|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29778231|PMID:29785153|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29954938|PMID:29967250|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30716324|PMID:30723761|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31097817|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31159747|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31360874|PMID:31407689 12057995 ATM ATM serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32756499|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33176972|PMID:33181636|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33747920|PMID:33850299|PMID:33919281|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34399810|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34761457|PMID:34820595|PMID:34994613|PMID:35039564|PMID:35245693|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35666082|PMID:35806449|PMID:35980532|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9150358|PMID:9244351|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333 12057995 ATM ATM serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:1606040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:10330348|PMID:10817650|PMID:10980530|PMID:12646636|PMID:15039971|PMID:16266405|PMID:21665257|PMID:21833744|PMID:25374739|PMID:25614872|PMID:25741868|PMID:26681312|PMID:27433846|PMID:28492532|PMID:29360161|PMID:30067863|PMID:31159747|PMID:32295079|PMID:9443866|PMID:9887333 12057995 ATM ATM serine/threonine kinase gene DOID:9256 colorectal cancer disease_progression ISO RGD:1606040 D RGD:9068941 20210430 RGD PMID:16533773|REF_RGD_ID:126790575 12057995 ATM ATM serine/threonine kinase gene DOID:9256 colorectal cancer disease_progression ISO RGD:1606040 D RGD:9068941 20210903 RGD DNA:mutations PMID:30814645|REF_RGD_ID:150340714 12057995 ATM ATM serine/threonine kinase gene DOID:9261 nasopharynx carcinoma ISO RGD:1606040 D RGD:9068941 20210409 RGD protein:decreased expression:epithelium of nasopharynx (human) PMID:29230817|REF_RGD_ID:126779560 12057995 ATM ATM serine/threonine kinase gene DOID:9261 nasopharynx carcinoma ISO RGD:1606040 D RGD:9068941 20210430 RGD associated with Epstein-Barr Virus Infections;mRNA:decreased expression:nasopharyngeal tissue (human) PMID:19142888|REF_RGD_ID:126790562 12057995 ATM ATM serine/threonine kinase gene DOID:9261 nasopharynx carcinoma treatment ISO RGD:1606040 D RGD:9068941 20210827 RGD PMID:28820634|REF_RGD_ID:150340692 12057995 ATM ATM serine/threonine kinase gene DOID:9460 uterine corpus cancer ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:11805335|PMID:15279808|PMID:16864838|PMID:19535770|PMID:19605768|PMID:21354641|PMID:21778326|PMID:21792198|PMID:21965147|PMID:22146522|PMID:22213089|PMID:25122203|PMID:2557216|PMID:25572163|PMID:25741868|PMID:25957637|PMID:25980754|PMID:26467025|PMID:26681312|PMID:26976419|PMID:28126470|PMID:28492532|PMID:28843361|PMID:29478780|PMID:29909963|PMID:30322717|PMID:30549301|PMID:30579816|PMID:30819809|PMID:31050087|PMID:32854451 12057995 ATM ATM serine/threonine kinase gene DOID:9538 multiple myeloma ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12057995 ATM ATM serine/threonine kinase gene DOID:9655 oral mucosa leukoplakia ISO RGD:1606040 D RGD:9068941 20210903 RGD protein:increased expression:mucosa of oral region (human) PMID:18288488|REF_RGD_ID:150340709 12057995 ATM ATM serine/threonine kinase gene DOID:9655 oral mucosa leukoplakia severity ISO RGD:1606040 D RGD:9068941 20210820 RGD protein:increased expression:mucosa of oral region (human) PMID:29928356|REF_RGD_ID:150340604 12057995 ATM ATM serine/threonine kinase gene DOID:9669 senile cataract susceptibility ISO RGD:1606040 D RGD:9068941 20210430 RGD DNA:SNP:3' UTR: (rs4585) (human) PMID:29156695|REF_RGD_ID:126790564 12058070 COIL coilin gene DOID:0050777 Joubert syndrome ISO RGD:735624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12058070 COIL coilin gene DOID:630 genetic disease ISO RGD:735624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058081 CTPS2 CTP synthase 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12058081 CTPS2 CTP synthase 2 gene DOID:12849 autistic disorder ISO RGD:1602693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12058081 CTPS2 CTP synthase 2 gene DOID:630 genetic disease ISO RGD:1602693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058081 CTPS2 CTP synthase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12058081 CTPS2 CTP synthase 2 gene DOID:9256 colorectal cancer resistance ISO RGD:1602693 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor (human) PMID:21378502|REF_RGD_ID:5132879 12058125 RDH5 retinol dehydrogenase 5 gene DOID:10584 retinitis pigmentosa ISO RGD:1318857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:30718709 12058125 RDH5 retinol dehydrogenase 5 gene DOID:11105 fundus albipunctatus ISO RGD:1318857 D RGD:7240710 20180130 OMIM 12058125 RDH5 retinol dehydrogenase 5 gene DOID:11105 fundus albipunctatus ISO RGD:1318857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fundus albipunctatus, autosomal recessive | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens PMID:10369264|PMID:10617778|PMID:11053295|PMID:11053296|PMID:11078852|PMID:11153648|PMID:11470705|PMID:11675386|PMID:11812441|PMID:12860821|PMID:14991316|PMID:15007239|PMID:15302662|PMID:15790919|PMID:17476461|PMID:18949499|PMID:20829743|PMID:21529959|PMID:22669287|PMID:22736946|PMID:22815624|PMID:2336278|PMID:24033266|PMID:25170858|PMID:25587058|PMID:25741868|PMID:25820994|PMID:27627638|PMID:28393863|PMID:28492532|PMID:29847639|PMID:302784|PMID:30718709|PMID:32232344 12058125 RDH5 retinol dehydrogenase 5 gene DOID:11830 myopia ISO RGD:1318857 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 12058125 RDH5 retinol dehydrogenase 5 gene DOID:630 genetic disease ISO RGD:1318857 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12058125 RDH5 retinol dehydrogenase 5 gene DOID:8499 night blindness ISO RGD:1318857 D RGD:9068941 20200609 RGD fundus albipunctatus (congenital night-blindness disorder), OMIM:601617 Gly238Trp, Arg280His, Ala294Pro PMID:10617778|REF_RGD_ID:1599416 12058125 RDH5 retinol dehydrogenase 5 gene DOID:8501 fundus dystrophy ISO RGD:1318857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11675386|PMID:20829743|PMID:22815624|PMID:23462753|PMID:24603341|PMID:28418496|PMID:28492532|PMID:29847639 12058125 RDH5 retinol dehydrogenase 5 gene DOID:9005835 Congenital Abnormalities ISO RGD:1318857 D RGD:9068941 20200609 RGD fundus albipunctatus (congenital night-blindness disorder), OMIM:601617 Gly238Trp, Arg280His, Ala294Pro PMID:10617778|REF_RGD_ID:1599416 12058139 GRHL2 grainyhead like transcription factor 2 gene DOID:0080669 posterior polymorphous corneal dystrophy 4 ISO RGD:1342517 D RGD:7240710 20190315 OMIM 12058139 GRHL2 grainyhead like transcription factor 2 gene DOID:0080669 posterior polymorphous corneal dystrophy 4 ISO RGD:1342517 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, posterior polymorphous, 4 PMID:24033266|PMID:25741868|PMID:28492532|PMID:29499165 12058139 GRHL2 grainyhead like transcription factor 2 gene DOID:0081152 common variable immunodeficiency 10 ISO RGD:1342517 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 PMID:24033266|PMID:25741868 12058139 GRHL2 grainyhead like transcription factor 2 gene DOID:0110557 autosomal dominant nonsyndromic deafness 28 ISO RGD:1342517 D RGD:7240710 20180130 OMIM 12058139 GRHL2 grainyhead like transcription factor 2 gene DOID:0110557 autosomal dominant nonsyndromic deafness 28 ISO RGD:1342517 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 28 PMID:12393799|PMID:23813623|PMID:24033266|PMID:25741868|PMID:28492532 12058139 GRHL2 grainyhead like transcription factor 2 gene DOID:0111590 Cohen syndrome ISO RGD:1342517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12058139 GRHL2 grainyhead like transcription factor 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1342517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 12058139 GRHL2 grainyhead like transcription factor 2 gene DOID:2566 corneal dystrophy ISO RGD:1342517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal dystrophy PMID:29499165 12058139 GRHL2 grainyhead like transcription factor 2 gene DOID:630 genetic disease ISO RGD:1342517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12058139 GRHL2 grainyhead like transcription factor 2 gene DOID:9004538 Hearing Loss ISO RGD:1342517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 12058139 GRHL2 grainyhead like transcription factor 2 gene DOID:9008992 ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME ISO RGD:1342517 D RGD:7240710 20180130 OMIM 12058139 GRHL2 grainyhead like transcription factor 2 gene DOID:9008992 ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME ISO RGD:1342517 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia/short stature syndrome PMID:24033266|PMID:25152456|PMID:25741868|PMID:28492532 12058163 MEOX2 mesenchyme homeobox 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12058163 MEOX2 mesenchyme homeobox 2 gene DOID:5844 myocardial infarction ISO RGD:3079 D RGD:9068941 20230128 RGD protein:decreased expression:heart (rat) PMID:24155330|REF_RGD_ID:155882536 12058163 MEOX2 mesenchyme homeobox 2 gene DOID:630 genetic disease ISO RGD:733480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058163 MEOX2 mesenchyme homeobox 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12058163 MEOX2 mesenchyme homeobox 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:733480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12058171 COA7 cytochrome c oxidase assembly factor 7 gene DOID:630 genetic disease ISO RGD:1606511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12058171 COA7 cytochrome c oxidase assembly factor 7 gene DOID:9008083 Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3 ISO RGD:1606511 D RGD:7240710 20190515 OMIM 12058171 COA7 cytochrome c oxidase assembly factor 7 gene DOID:9008083 Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3 ISO RGD:1606511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 PMID:25741868|PMID:27683825|PMID:28492532|PMID:29718187|PMID:30885959 12058178 MCM2 minichromosome maintenance complex component 2 gene DOID:0080600 COVID-19 ISO RGD:1313689 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12058178 MCM2 minichromosome maintenance complex component 2 gene DOID:0110592 autosomal dominant nonsyndromic deafness 70 ISO RGD:1313689 D RGD:7240710 20190315 OMIM 12058178 MCM2 minichromosome maintenance complex component 2 gene DOID:0110592 autosomal dominant nonsyndromic deafness 70 ISO RGD:1313689 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 70 PMID:25741868|PMID:26196677|PMID:28492532 12058178 MCM2 minichromosome maintenance complex component 2 gene DOID:0111947 immunodeficiency 21 ISO RGD:1313689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12058178 MCM2 minichromosome maintenance complex component 2 gene DOID:10652 Alzheimer's disease ISO RGD:1313689 D RGD:9068941 20200609 RGD PMID:19946466|REF_RGD_ID:10412048 12058178 MCM2 minichromosome maintenance complex component 2 gene DOID:10652 Alzheimer's disease ISO RGD:1313690 D RGD:9068941 20200609 RGD PMID:17070803|REF_RGD_ID:10412050 12058178 MCM2 minichromosome maintenance complex component 2 gene DOID:630 genetic disease ISO RGD:1313689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12058178 MCM2 minichromosome maintenance complex component 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1313689 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12058178 MCM2 minichromosome maintenance complex component 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:1313689 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23770000 12058178 MCM2 minichromosome maintenance complex component 2 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:1305577 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus PMID:17931356|REF_RGD_ID:10412049 12058178 MCM2 minichromosome maintenance complex component 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1313689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 12058178 MCM2 minichromosome maintenance complex component 2 gene DOID:9270 alkaptonuria ISO RGD:1313689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12058196 RAB3A RAB3A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:735498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058196 RAB3A RAB3A, member RAS oncogene family gene DOID:9005834 Ependymomas ISO RGD:735498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075792 12058196 RAB3A RAB3A, member RAS oncogene family gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:735498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12058205 SLCO2A1 solute carrier organic anion transporter family member 2A1 gene DOID:0060041 autism spectrum disorder ISO RGD:736966 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12058205 SLCO2A1 solute carrier organic anion transporter family member 2A1 gene DOID:14283 primary hypertrophic osteoarthropathy ISO RGD:736966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12058205 SLCO2A1 solute carrier organic anion transporter family member 2A1 gene DOID:630 genetic disease ISO RGD:736966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12058205 SLCO2A1 solute carrier organic anion transporter family member 2A1 gene DOID:9000535 Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 2 ISO RGD:736966 D RGD:7240710 20180130 OMIM 12058205 SLCO2A1 solute carrier organic anion transporter family member 2A1 gene DOID:9000535 Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 2 ISO RGD:736966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 PMID:16283874|PMID:22197487|PMID:22331663|PMID:22553128|PMID:22906430|PMID:23509104|PMID:24012041|PMID:24153155|PMID:24838973|PMID:24929850|PMID:25741868|PMID:25810087|PMID:26072672|PMID:26539716|PMID:27134495|PMID:28492532|PMID:28963081|PMID:29313109|PMID:33852188 12058205 SLCO2A1 solute carrier organic anion transporter family member 2A1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15805072 12058205 SLCO2A1 solute carrier organic anion transporter family member 2A1 gene DOID:9007281 Primary Hypertrophic Osteoarthropathy, Autosomal Dominant ISO RGD:736966 D RGD:7240710 20210707 OMIM 12058205 SLCO2A1 solute carrier organic anion transporter family member 2A1 gene DOID:9007281 Primary Hypertrophic Osteoarthropathy, Autosomal Dominant ISO RGD:736966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal dominant PMID:16283874|PMID:22197487|PMID:22553128|PMID:22906430|PMID:23509104|PMID:24153155|PMID:24838973|PMID:24929850|PMID:25741868|PMID:26539716|PMID:27134495|PMID:28492532|PMID:33852188 12058205 SLCO2A1 solute carrier organic anion transporter family member 2A1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 12058205 SLCO2A1 solute carrier organic anion transporter family member 2A1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:736966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12058221 KCTD9 potassium channel tetramerization domain containing 9 gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:1323768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E PMID:19158810|PMID:20039262|PMID:28492532 12058221 KCTD9 potassium channel tetramerization domain containing 9 gene DOID:630 genetic disease ISO RGD:1323768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058236 EMP1 epithelial membrane protein 1 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:735990 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12058236 EMP1 epithelial membrane protein 1 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:735990 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12058236 EMP1 epithelial membrane protein 1 gene DOID:630 genetic disease ISO RGD:735990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058236 EMP1 epithelial membrane protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735990 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12058236 EMP1 epithelial membrane protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735990 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12058236 EMP1 epithelial membrane protein 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:735990 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12058245 PAX7 paired box 7 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604064 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12058245 PAX7 paired box 7 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:1604064 D RGD:7240710 20180130 OMIM 12058245 PAX7 paired box 7 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:1604064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma | ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2 PMID:25741868|PMID:31092906|PMID:32214227 12058245 PAX7 paired box 7 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1604064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12058245 PAX7 paired box 7 gene DOID:630 genetic disease ISO RGD:1604064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058245 PAX7 paired box 7 gene DOID:9002481 Congenital Myopathy 19 ISO RGD:1604064 D RGD:7240710 20191016 OMIM 12058245 PAX7 paired box 7 gene DOID:9002481 Congenital Myopathy 19 ISO RGD:1604064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, progressive, with scoliosis PMID:25741868|PMID:31092906|PMID:32214227 12058259 HUNK hormonally up-regulated Neu-associated kinase gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1344314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12058259 HUNK hormonally up-regulated Neu-associated kinase gene DOID:0060898 Parkinson's disease 20 ISO RGD:1344314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12058259 HUNK hormonally up-regulated Neu-associated kinase gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1344314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12058259 HUNK hormonally up-regulated Neu-associated kinase gene DOID:630 genetic disease ISO RGD:1344314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058277 CDH9 cadherin 9 gene DOID:12849 autistic disorder ISO RGD:1354185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19404256 12058277 CDH9 cadherin 9 gene DOID:630 genetic disease ISO RGD:1354185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058277 CDH9 cadherin 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12058298 RHBDL1 rhomboid like 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1347230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12058298 RHBDL1 rhomboid like 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1347230 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12058298 RHBDL1 rhomboid like 1 gene DOID:1826 epilepsy ISO RGD:1347230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12058298 RHBDL1 rhomboid like 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1347230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12058309 BCL2L2 BCL2 like 2 gene DOID:0002116 pterygium ISO RGD:620717 D RGD:9068941 20200609 RGD RNA:increased expression:conjunctiva PMID:27415790|REF_RGD_ID:14394423 12058309 BCL2L2 BCL2 like 2 gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:1352362 D RGD:9068941 20200609 RGD PMID:28094768|REF_RGD_ID:14394511 12058309 BCL2L2 BCL2 like 2 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1352362 D RGD:9068941 20200609 RGD PMID:10638987|REF_RGD_ID:14394422 12058309 BCL2L2 BCL2 like 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1352362 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12058309 BCL2L2 BCL2 like 2 gene DOID:10652 Alzheimer's disease ISO RGD:1352362 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, cortex PMID:15147516|REF_RGD_ID:14394419 12058309 BCL2L2 BCL2 like 2 gene DOID:10652 Alzheimer's disease treatment ISO RGD:620717 D RGD:9068941 20200609 RGD PMID:20460763|REF_RGD_ID:14394421 12058309 BCL2L2 BCL2 like 2 gene DOID:11994 atrophy of testis ISO RGD:1551699 D RGD:9068941 20200609 RGD PMID:9500547|REF_RGD_ID:734642 12058309 BCL2L2 BCL2 like 2 gene DOID:14227 azoospermia ISO RGD:1551699 D RGD:9068941 20200609 RGD PMID:9770502|REF_RGD_ID:14394611 12058309 BCL2L2 BCL2 like 2 gene DOID:1826 epilepsy ISO RGD:620717 D RGD:9068941 20200609 RGD protein:increased expression: hippocampu PMID:11403928|REF_RGD_ID:14394514 12058309 BCL2L2 BCL2 like 2 gene DOID:224 transient cerebral ischemia ISO RGD:620717 D RGD:9068941 20200609 RGD protein:increased expression:cortex and caudate putamen PMID:10724126|REF_RGD_ID:14394498 12058309 BCL2L2 BCL2 like 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:1352362 D RGD:9068941 20200609 RGD PMID:12571640|REF_RGD_ID:14394500 12058309 BCL2L2 BCL2 like 2 gene DOID:2377 multiple sclerosis ISO RGD:1352362 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain: PMID:24270187|REF_RGD_ID:14394512 12058309 BCL2L2 BCL2 like 2 gene DOID:630 genetic disease ISO RGD:1352362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058309 BCL2L2 BCL2 like 2 gene DOID:707 B-cell lymphoma disease_progression ISO RGD:1551699 D RGD:9068941 20200609 RGD PMID:28094768|REF_RGD_ID:14394511 12058309 BCL2L2 BCL2 like 2 gene DOID:8584 Burkitt lymphoma ISO RGD:1352362 D RGD:9068941 20200609 RGD mRNA:increased expression:lymph node PMID:28094768|REF_RGD_ID:14394511 12058309 BCL2L2 BCL2 like 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1352362 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 12058309 BCL2L2 BCL2 like 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1352362 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12058322 RPL10L ribosomal protein L10 like gene DOID:0070176 spermatogenic failure 4 ISO RGD:1314230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenesis maturation arrest PMID:32111475 12058322 RPL10L ribosomal protein L10 like gene DOID:0112356 spermatogenic failure 63 ISO RGD:1314230 D RGD:7240710 20220126 OMIM 12058322 RPL10L ribosomal protein L10 like gene DOID:0112356 spermatogenic failure 63 ISO RGD:1314230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 63 PMID:32111475 12058322 RPL10L ribosomal protein L10 like gene DOID:10283 prostate cancer ISO RGD:1314230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12058322 RPL10L ribosomal protein L10 like gene DOID:630 genetic disease ISO RGD:1314230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058322 RPL10L ribosomal protein L10 like gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314230 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12058322 RPL10L ribosomal protein L10 like gene DOID:9008892 Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis ISO RGD:1314230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis 12058327 SMCP sperm mitochondria associated cysteine rich protein gene DOID:0111940 immunodeficiency 42 ISO RGD:737432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12058327 SMCP sperm mitochondria associated cysteine rich protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:737432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12058327 SMCP sperm mitochondria associated cysteine rich protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:737432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12058327 SMCP sperm mitochondria associated cysteine rich protein gene DOID:1540 parathyroid carcinoma ISO RGD:737432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12058327 SMCP sperm mitochondria associated cysteine rich protein gene DOID:5812 MHC class II deficiency ISO RGD:737432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12058327 SMCP sperm mitochondria associated cysteine rich protein gene DOID:630 genetic disease ISO RGD:737432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058327 SMCP sperm mitochondria associated cysteine rich protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12058334 WSCD1 WSC domain containing 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1603698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12058334 WSCD1 WSC domain containing 1 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1603698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 12058334 WSCD1 WSC domain containing 1 gene DOID:630 genetic disease ISO RGD:1603698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058334 WSCD1 WSC domain containing 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1603698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12058350 PCYT2 phosphate cytidylyltransferase 2, ethanolamine gene DOID:0112343 hereditary spastic paraplegia 82 ISO RGD:736348 D RGD:7240710 20200226 OMIM 12058350 PCYT2 phosphate cytidylyltransferase 2, ethanolamine gene DOID:0112343 hereditary spastic paraplegia 82 ISO RGD:736348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 82, autosomal recessive PMID:25741868|PMID:28492532|PMID:31637422|PMID:32889549 12058350 PCYT2 phosphate cytidylyltransferase 2, ethanolamine gene DOID:630 genetic disease ISO RGD:736348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:31637422|PMID:32889549 12058369 ZNF512 zinc finger protein 512 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1349628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12058369 ZNF512 zinc finger protein 512 gene DOID:630 genetic disease ISO RGD:1349628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058396 MED9 mediator complex subunit 9 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1349775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 12058396 MED9 mediator complex subunit 9 gene DOID:0050777 Joubert syndrome ISO RGD:1349775 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12058396 MED9 mediator complex subunit 9 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1349775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12058396 MED9 mediator complex subunit 9 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1349775 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12058396 MED9 mediator complex subunit 9 gene DOID:12849 autistic disorder ISO RGD:1349775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12058396 MED9 mediator complex subunit 9 gene DOID:630 genetic disease ISO RGD:1349775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058403 FKBP1A FKBP prolyl isomerase 1A gene DOID:0050476 Barth syndrome ISO RGD:737540 D RGD:9068941 20220825 MouseDO OMIM:302060 12058403 FKBP1A FKBP prolyl isomerase 1A gene DOID:0080855 Parkinsonism ISO RGD:2617 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:17877381|REF_RGD_ID:2302074 12058403 FKBP1A FKBP prolyl isomerase 1A gene DOID:1682 congenital heart disease ISO RGD:737540 D RGD:9068941 20200609 RGD PMID:9461216|REF_RGD_ID:1580388 12058403 FKBP1A FKBP prolyl isomerase 1A gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737539 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12058403 FKBP1A FKBP prolyl isomerase 1A gene DOID:630 genetic disease ISO RGD:737539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058403 FKBP1A FKBP prolyl isomerase 1A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737539 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12058413 TUBA1C tubulin alpha 1c gene DOID:11476 osteoporosis ISO RGD:1606486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12058413 TUBA1C tubulin alpha 1c gene DOID:630 genetic disease ISO RGD:1606486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058413 TUBA1C tubulin alpha 1c gene DOID:9000217 Stomach Neoplasms ISO RGD:1606486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 12058413 TUBA1C tubulin alpha 1c gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1606486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 12058452 LOC102151831 keratin-associated protein 3-3 gene DOID:630 genetic disease ISO RGD:1316737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058457 LOC102152370 PWWP domain-containing DNA repair factor 3B-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:16568676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12058457 LOC102152370 PWWP domain-containing DNA repair factor 3B-like gene DOID:12849 autistic disorder ISO RGD:16568676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12058497 SMIM18 small integral membrane protein 18 gene DOID:630 genetic disease ISO RGD:7204607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058553 GNG8 G protein subunit gamma 8 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:735730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 12058553 GNG8 G protein subunit gamma 8 gene DOID:0110644 long QT syndrome 1 ISO RGD:735730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:28492532 12058553 GNG8 G protein subunit gamma 8 gene DOID:409 liver disease ISO RGD:735730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12058553 GNG8 G protein subunit gamma 8 gene DOID:630 genetic disease ISO RGD:735730 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1345007 D RGD:9068941 20200609 RGD PMID:22954124|REF_RGD_ID:14700880 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:0050868 hepatocellular adenoma treatment ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:23543859|REF_RGD_ID:14700918 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11406608 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1345007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:26703967|REF_RGD_ID:11573192 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26428356 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:28458161|REF_RGD_ID:14700881 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:25317811|REF_RGD_ID:14700871 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:10320 asbestosis ISO RGD:1345007 D RGD:9068941 20200609 RGD mRNA:decreased expression:leukocyte PMID:20514434|REF_RGD_ID:4892076 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1345007 D RGD:9068941 20200609 RGD PMID:22957075|REF_RGD_ID:14700909 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:1168 familial hyperlipidemia ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:23002367|REF_RGD_ID:14700877 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:11981 morbid obesity ISO RGD:1345007 D RGD:9068941 20200609 RGD protein:increased activity::3x higher activity in morbidly obese subjects compared to non-obese, activity decreased proportionally with weight loss, activity measured as total oral chlorzoxazone clearance PMID:12883487|REF_RGD_ID:1626305 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:12689 acoustic neuroma ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:snp:promoter:c.-1053C>T (human) PMID:12540498|REF_RGD_ID:1358568 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:13938 amenorrhea ISO RGD:1345007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20843640 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1345007 D RGD:9068941 20200609 RGD PMID:29404441|REF_RGD_ID:14700873 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:14330 Parkinson's disease ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16510128 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:1574 alcohol use disorder ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:29404485|REF_RGD_ID:14700911 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:1574 alcohol use disorder ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20843640 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:1574 alcohol use disorder ISO RGD:1345007 D RGD:9068941 20200609 RGD protein:increased expression:plasma, extracellular exosome PMID:29404485|REF_RGD_ID:14700911 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:1574 alcohol use disorder ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:23819932|REF_RGD_ID:14700915 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:1596 depressive disorder ISO RGD:2475 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:20595028|REF_RGD_ID:4892242 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:1852 intrahepatic cholestasis ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:29404441|REF_RGD_ID:14700873 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:2044 drug-induced hepatitis ISO RGD:2475 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:23619520|REF_RGD_ID:14700910 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:219 colon cancer treatment ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:30720227|REF_RGD_ID:14700924 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:2841 asthma ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:17081494|REF_RGD_ID:4892220 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:2841 asthma ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28807506 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:2841 asthma ISO RGD:1345007 D RGD:9068941 20200609 RGD mRNA:decreased expression:leukocyte PMID:20514434|REF_RGD_ID:4892076 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:299 adenocarcinoma ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16142352 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:3021 acute kidney failure treatment ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:24412858|PMID:24717297|REF_RGD_ID:14700914|REF_RGD_ID:14700920 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:3070 high grade glioma ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:snp:promoter:c.-1053C>T (human) PMID:12540498|REF_RGD_ID:1358568 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-1293G>C, 7632T>A, 9893C>G (human) PMID:17442289|REF_RGD_ID:4892219 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:23002367|REF_RGD_ID:14700877 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16142352 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:409 liver disease ISO RGD:1345007 D RGD:9068941 20200609 RGD PMID:20392357|REF_RGD_ID:4892216 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:409 liver disease ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:19352025|REF_RGD_ID:4892217 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:409 liver disease ISO RGD:2475 D RGD:9068941 20200609 RGD associated with familial hyperlipidemia and middle cerebral artery infarction PMID:23002367|REF_RGD_ID:14700877 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:409 liver disease no_association ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:polymorphism, repeat:5' utr (human) PMID:17950035|REF_RGD_ID:4892218 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:409 liver disease treatment ISO RGD:2475 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21425780|REF_RGD_ID:14700913 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:552 pneumonia ISO RGD:10451 D RGD:9068941 20200609 RGD protein:increased expression:alveolus, epithelial cell PMID:14698565|REF_RGD_ID:4892223 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:552 pneumonia ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:15928955|REF_RGD_ID:4142512 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:630 genetic disease ISO RGD:1345007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15162526 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA, mRNA:SNP, Decreased expression:liver: rs2031920 (human) PMID:29765251|REF_RGD_ID:14700899 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1345007 D RGD:9068941 20200609 RGD associated with alcohol dependence PMID:20364586|REF_RGD_ID:14700882 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1345007 D RGD:9068941 20200609 RGD mRNA:decreased expression:leukocyte PMID:20514434|REF_RGD_ID:4892076 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:850 lung disease ISO RGD:10451 D RGD:9068941 20200609 RGD Lung Injury PMID:8667236|REF_RGD_ID:4892222 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:8618 oral cavity cancer ISO RGD:1345007 D RGD:9068941 20200609 RGD PMID:16721740|REF_RGD_ID:14700978 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:29401608|REF_RGD_ID:14700887 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1345007 D RGD:9068941 20200609 RGD PMID:29401608|REF_RGD_ID:14700887 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:25592162|PMID:29902864|REF_RGD_ID:14700893|REF_RGD_ID:14700894 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:30192013|REF_RGD_ID:14700906 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18056438 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12771559 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9003936 Cardiomegaly ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18725507 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2475 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:21094789|REF_RGD_ID:4892235 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9004484 Sepsis ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:15665729|REF_RGD_ID:5147745 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1673675|PMID:17093202 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9005236 Drug Eruptions ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19351467 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:12700423|REF_RGD_ID:2313685 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2475 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, liver PMID:19406192|REF_RGD_ID:2313683 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9005749 Necrosis ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12086689|PMID:12566070 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9006302 Binge Drinking ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:25236742|REF_RGD_ID:14700891 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9006302 Binge Drinking ISO RGD:1345007 D RGD:9068941 20200609 RGD protein:increased expression, increased nitration PMID:25236742|REF_RGD_ID:14700891 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9006302 Binge Drinking ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:29404485|REF_RGD_ID:14700911 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9006411 Testicular Injury treatment ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:27130490|REF_RGD_ID:14700916 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22156006 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18990727 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:24064383|PMID:25583360|REF_RGD_ID:14700870|REF_RGD_ID:14700884 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26428356 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17093202 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9007329 Human Viral Hepatitis ISO RGD:1345007 D RGD:9068941 20200609 RGD PMID:20939108|REF_RGD_ID:14700885 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:25681370|REF_RGD_ID:14700872 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12668988|PMID:16770646|PMID:21741958|PMID:28762043 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345007 D RGD:9068941 20200609 RGD PMID:29404441|REF_RGD_ID:14700873 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:27490558|REF_RGD_ID:14700879 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2475 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:27324775|REF_RGD_ID:14700878 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:27960551|REF_RGD_ID:14700901 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9007651 Chronic Bronchitis ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:14593914|REF_RGD_ID:4889126 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9008616 Patent Ductus Venosus ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:24924401|REF_RGD_ID:14700900 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9008691 Liver Injury treatment ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:24963944|REF_RGD_ID:14700896 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9256 colorectal cancer ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:SNP:rs3813867 (human) PMID:30489355|REF_RGD_ID:14700897 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9261 nasopharynx carcinoma ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:SNP: :rs2031920 (human) PMID:26582733|REF_RGD_ID:11061495 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:10451 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:10679205|REF_RGD_ID:2313687 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345007 D RGD:9068941 20200609 RGD mRNA:increased expression:leukocyte PMID:12534643|REF_RGD_ID:2313686 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2475 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:10049703|REF_RGD_ID:2313688 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9452 fatty liver disease ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18952117 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9452 fatty liver disease ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:polymorphism:5' utr:reduced frequency of homozygotic C1 RFLP (PstI+, RsaI-) and increased frequency of C2 RFLP (PstI-,RsaI+) in Chinese patients PMID:14606109|REF_RGD_ID:1626302 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9452 fatty liver disease ISO RGD:2475 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19404342|REF_RGD_ID:4892244 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1345007 D RGD:9068941 20200609 RGD mRNA:increased expression:leukocyte PMID:12743671|REF_RGD_ID:2313684 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11774269 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9970 obesity ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23954404 12058559 CYP2E1 cytochrome P450 family 2 subfamily E member 1 gene DOID:9970 obesity ISO RGD:2475 D RGD:9068941 20200609 RGD protein:increased activity:liver,fat PMID:17049493|REF_RGD_ID:1626307 12058572 RNF146 ring finger protein 146 gene DOID:2256 osteochondrodysplasia ISO RGD:1552458 D RGD:9068941 20221020 MouseDO 12058572 RNF146 ring finger protein 146 gene DOID:630 genetic disease ISO RGD:1315124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058572 RNF146 ring finger protein 146 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1306482 D RGD:9068941 20200609 RGD PMID:28108258|REF_RGD_ID:13524865 12058590 CAVIN3 caveolae associated protein 3 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1353748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12058590 CAVIN3 caveolae associated protein 3 gene DOID:630 genetic disease ISO RGD:1353748 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0050451 Brugada syndrome ISO RGD:1345144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25049379 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1345144 D RGD:9068941 20220311 RGD DNA:mutation:L265P, L265S (human) PMID:28803429|REF_RGD_ID:151665120 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1345144 D RGD:9068941 20220317 RGD DNA:missense mutation:L265P (human) PMID:25347427|REF_RGD_ID:11075852 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0050745 diffuse large B-cell lymphoma severity ISO RGD:1345144 D RGD:9068941 20220317 RGD DNA:missense mutation:L265P (human) PMID:31609782|REF_RGD_ID:151665203 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0050860 colorectal adenoma ameliorates ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:30063920|REF_RGD_ID:150519915 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0050861 colorectal adenocarcinoma exacerbates ISO RGD:1345144 D RGD:9068941 20211231 RGD RNA:decreased expression:colon (human) PMID:28533893|REF_RGD_ID:150540307 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0050873 follicular lymphoma ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0060058 lymphoma ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lymphoma PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant lymphoma, non-Hodgkin PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0060901 lymphoplasmacytic lymphoma ISO RGD:1345144 D RGD:7240710 20200701 OMIM 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0060901 lymphoplasmacytic lymphoma ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macroglobulinemia, Waldenstrom, somatic PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0080199 colorectal carcinoma ameliorates ISO RGD:1345144 D RGD:9068941 20211105 RGD human cell line in a mouse model PMID:31746347|REF_RGD_ID:150520167 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:1345144 D RGD:9068941 20211022 RGD mRNA:increased expression:colon (human) PMID:30221070|REF_RGD_ID:150519917 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:25790822|REF_RGD_ID:150519907 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:0080599 Coronavirus infectious disease ISO RGD:1551097 D RGD:9068941 20220825 MouseDO 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:10534 stomach cancer ameliorates ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:23728346|REF_RGD_ID:150519918 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:10534 stomach cancer onset ISO RGD:1551097 D RGD:9068941 20211022 RGD associated with Helicobacter Infections PMID:24166959|REF_RGD_ID:150519913 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:10763 hypertension ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27292124 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:11168 anogenital venereal wart ISO RGD:1345144 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:12253 testicular lymphoma ISO RGD:730908 D RGD:9068941 20211203 RGD associated with diffuse large B-cell lymphoma;DNA:missense mutation:CDS:p.L265P (human) PMID:28868954|REF_RGD_ID:150524335 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:1324 lung cancer exacerbates ISO RGD:1345144 D RGD:9068941 20211112 RGD human cell line in a mouse model PMID:22938463|REF_RGD_ID:150521529 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:13250 diarrhea ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:20624890|REF_RGD_ID:150520020 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:13619 extrahepatic cholestasis ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:1520 colon carcinoma treatment ISO RGD:1551097 D RGD:9068941 20211105 RGD mouse cell line in a mouse model PMID:20823152|REF_RGD_ID:150520170 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:1612 breast cancer exacerbates ISO RGD:1345144 D RGD:9068941 20211203 RGD RNA:increased expression:breast (human) PMID:26596839|REF_RGD_ID:150524333 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:1909 melanoma treatment ISO RGD:1551097 D RGD:9068941 20211105 RGD mouse cell line in a mouse model PMID:20823152|REF_RGD_ID:150520170 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:2043 hepatitis B ISO RGD:1345144 D RGD:9068941 20211105 RGD associated with hepatocellular carcinoma;protein:decreased expression:liver (human) PMID:28370778|REF_RGD_ID:150520169 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:219 colon cancer ameliorates ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:23184679|REF_RGD_ID:150520021 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:2326 gastroenteritis treatment ISO RGD:1551097 D RGD:9068941 20211231 RGD associated with colorectal adenocarcinoma; mouse cell line in a mouse model PMID:31936237|REF_RGD_ID:150540308 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:234 colon adenocarcinoma exacerbates ISO RGD:1345144 D RGD:9068941 20211112 RGD human cell line in a mouse model PMID:18538140|REF_RGD_ID:150521533 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:2355 anemia ameliorates ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:17615359|REF_RGD_ID:150519908 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:2841 asthma ameliorates ISO RGD:1551097 D RGD:9068941 20211112 RGD PMID:26882889|REF_RGD_ID:11531666 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:2945 severe acute respiratory syndrome ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26861016 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:3234 central nervous system lymphoma treatment ISO RGD:1345144 D RGD:9068941 20220317 RGD PMID:28619981|REF_RGD_ID:151665208 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:3459 breast carcinoma ameliorates ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:22088941|REF_RGD_ID:150519914 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:3459 breast carcinoma treatment ISO RGD:1551097 D RGD:9068941 20211105 RGD mouse cell line in a mouse model PMID:20823152|REF_RGD_ID:150520170 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345144 D RGD:9068941 20211022 RGD protein:increased expression:lung (human) PMID:31432177|REF_RGD_ID:150519919 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1345144 D RGD:9068941 20211203 RGD DNA:hypomethylation:promoter (human) PMID:32010578|REF_RGD_ID:150524328 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1551097 D RGD:9068941 20211231 RGD PMID:30712876|REF_RGD_ID:150540309 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:3910 lung adenocarcinoma treatment ISO RGD:1551097 D RGD:9068941 20211105 RGD mouse cell line in a mouse model PMID:32140881|REF_RGD_ID:150520172 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:5041 esophageal cancer ISO RGD:1345144 D RGD:9068941 20211022 RGD mRNA:splice variants:esophagus (human) PMID:24527027|REF_RGD_ID:150519911 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:552 pneumonia ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26882889 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:630 genetic disease ISO RGD:1345144 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:6536 plasma cell neoplasm ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma ISO RGD:1345144 D RGD:9068941 20211022 RGD mRNA:increased expression:liver (human) PMID:29022910|REF_RGD_ID:150520022 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma ISO RGD:1345144 D RGD:9068941 20211203 RGD protein:increased expression:liver (human) PMID:26985932|REF_RGD_ID:150524330 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1551097 D RGD:9068941 20211112 RGD PMID:17615358|REF_RGD_ID:150521532 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1345144 D RGD:9068941 20211105 RGD protein, mRNA:decreased expression:liver (human) PMID:28370778|REF_RGD_ID:150520169 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1345144 D RGD:9068941 20211210 RGD human gene and cell in a mouse model PMID:24603331|REF_RGD_ID:150530285 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1345144 D RGD:9068941 20211203 RGD human cell line in a mouse model PMID:32144747|REF_RGD_ID:150524327 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1551097 D RGD:9068941 20211203 RGD mouse cell line in a mouse model PMID:31074165|REF_RGD_ID:150524334 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:735043 D RGD:9068941 20211203 RGD PMID:31068809|PMID:33575076|REF_RGD_ID:150521534|REF_RGD_ID:150524329 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:7442 monoclonal gammopathy of uncertain significance ISO RGD:1551097 D RGD:9068941 20220825 MouseDO 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9000099 Experimental Colitis exacerbates ISO RGD:1551097 D RGD:9068941 20211112 RGD PMID:25362351|REF_RGD_ID:150521530 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9000217 Stomach Neoplasms ameliorates ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:26888865|REF_RGD_ID:150519909 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9001371 Eosinophilia ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26882889 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9001436 Immunodeficiency 68 ISO RGD:1345144 D RGD:7240710 20180130 OMIM 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9001436 Immunodeficiency 68 ISO RGD:1345144 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:16199547|PMID:17576681|PMID:18669862|PMID:19506249|PMID:20538326|PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:24316379|PMID:24728327|PMID:25741868|PMID:26619011|PMID:28492532|PMID:31301515|PMID:9536098 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9001642 Intestinal Polyps ameliorates ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:17615359|REF_RGD_ID:150519908 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9002457 Experimental Arthritis ISO RGD:1551097 D RGD:9068941 20200609 RGD PMID:20131263|REF_RGD_ID:8552884 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9003321 Bacterial Keratitis ISO RGD:1551097 D RGD:9068941 20200609 RGD associated with Serratia Infections; PMID:23033384|REF_RGD_ID:8662876 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9003321 Bacterial Keratitis ISO RGD:1551097 D RGD:9068941 20200609 RGD associated with Staphylococcal Infections; PMID:16926427|REF_RGD_ID:8552819 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9003571 Paraproteinemias ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9003690 Carcinoma, Lewis Lung treatment ISO RGD:1551097 D RGD:9068941 20211112 RGD mouse cell line in a mouse model PMID:26111447|REF_RGD_ID:150521531 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9004009 Reperfusion Injury ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25780291 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9004271 Colonic Polyps ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:20624890|REF_RGD_ID:150520020 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21473897 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9004831 Colitis-Associated Neoplasms ameliorates ISO RGD:1551097 D RGD:9068941 20211210 RGD PMID:21519141|PMID:26712311|REF_RGD_ID:150520168|REF_RGD_ID:150530283 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9004831 Colitis-Associated Neoplasms exacerbates ISO RGD:1551097 D RGD:9068941 20211210 RGD PMID:29960049|PMID:30650348|REF_RGD_ID:150521528|REF_RGD_ID:150530281 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9005372 Inflammation ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22053092 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9007346 Cachexia ameliorates ISO RGD:1551097 D RGD:9068941 20211210 RGD associated with Carcinoma, Lewis Lung PMID:31138662|REF_RGD_ID:150530282 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ameliorates ISO RGD:1551097 D RGD:9068941 20211112 RGD PMID:17615358|REF_RGD_ID:150521532 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735043 D RGD:9068941 20200609 RGD PMID:14962484|REF_RGD_ID:1302746 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9008114 Helicobacter Infections ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:28201999|REF_RGD_ID:150519916 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1345144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9008691 Liver Injury disease_progression ISO RGD:1620111 D RGD:9068941 20211203 RGD PMID:30770929|REF_RGD_ID:150524332 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9009054 Colorectal Cancer 10 ameliorates ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:33177648|REF_RGD_ID:150519912 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9256 colorectal cancer ameliorates ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:30221070|REF_RGD_ID:150519917 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9256 colorectal cancer disease_progression ISO RGD:1345144 D RGD:9068941 20211105 RGD mRNA:decreased expression:colon (human) PMID:24887488|REF_RGD_ID:150520171 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9256 colorectal cancer severity ISO RGD:1345144 D RGD:9068941 20211203 RGD DNA:SNP:promoter: (rs4988453) (human) PMID:24154872|REF_RGD_ID:150524331 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9256 colorectal cancer severity ISO RGD:1345144 D RGD:9068941 20211203 RGD protein:increased expression:colonic mucosa (human) PMID:20145615|REF_RGD_ID:150524336 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9498 pulmonary eosinophilia ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29067999 12058596 MYD88 MYD88 innate immune signal transduction adaptor gene DOID:9538 multiple myeloma ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 12058604 PCYT1A phosphate cytidylyltransferase 1A, choline gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:737380 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 12058604 PCYT1A phosphate cytidylyltransferase 1A, choline gene DOID:0080016 spina bifida ISO RGD:737380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17184542 12058604 PCYT1A phosphate cytidylyltransferase 1A, choline gene DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy ISO RGD:737380 D RGD:7240710 20180130 OMIM 12058604 PCYT1A phosphate cytidylyltransferase 1A, choline gene DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy ISO RGD:737380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome PMID:15326626|PMID:21412974|PMID:24387990|PMID:24387991|PMID:25741868|PMID:28272537|PMID:28492532|PMID:30559292 12058604 PCYT1A phosphate cytidylyltransferase 1A, choline gene DOID:12849 autistic disorder ISO RGD:737380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12058604 PCYT1A phosphate cytidylyltransferase 1A, choline gene DOID:14791 Leber congenital amaurosis ISO RGD:737380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868 12058604 PCYT1A phosphate cytidylyltransferase 1A, choline gene DOID:5419 schizophrenia ISO RGD:737380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12058604 PCYT1A phosphate cytidylyltransferase 1A, choline gene DOID:630 genetic disease ISO RGD:737380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15326626|PMID:24387990|PMID:28492532|PMID:30559292 12058604 PCYT1A phosphate cytidylyltransferase 1A, choline gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12058623 EXOC2 exocyst complex component 2 gene DOID:10283 prostate cancer ISO RGD:1348584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12058623 EXOC2 exocyst complex component 2 gene DOID:630 genetic disease ISO RGD:1348584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058623 EXOC2 exocyst complex component 2 gene DOID:9007202 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA ISO RGD:1348584 D RGD:7240710 20210623 OMIM 12058623 EXOC2 exocyst complex component 2 gene DOID:9007202 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA ISO RGD:1348584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia PMID:32639540 12058660 SLC41A1 solute carrier family 41 member 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1322838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12058660 SLC41A1 solute carrier family 41 member 1 gene DOID:12849 autistic disorder ISO RGD:1322838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12058660 SLC41A1 solute carrier family 41 member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1322838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12058660 SLC41A1 solute carrier family 41 member 1 gene DOID:630 genetic disease ISO RGD:1322838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12058660 SLC41A1 solute carrier family 41 member 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1322838 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12058660 SLC41A1 solute carrier family 41 member 1 gene DOID:9006423 Nephronophthisis-like Nephropathy 2 ISO RGD:1322838 D RGD:7240710 20210818 OMIM 12058660 SLC41A1 solute carrier family 41 member 1 gene DOID:9006423 Nephronophthisis-like Nephropathy 2 ISO RGD:1322838 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 2 PMID:23661805|PMID:25741868|PMID:28492532 12058660 SLC41A1 solute carrier family 41 member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12058691 SNW1 SNW domain containing 1 gene DOID:11446 sciatic neuropathy ISO RGD:1561926 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve (rat) PMID:23389663|REF_RGD_ID:11035242 12058691 SNW1 SNW domain containing 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1321977 D RGD:9068941 20200609 RGD DNA:snp:intron: T>A (human) (rs1477261) PMID:19377877|REF_RGD_ID:2683526 12058691 SNW1 SNW domain containing 1 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1321977 D RGD:9068941 20200609 RGD DNA:snp:intron: T>A (human) (rs1477261) PMID:20056645|REF_RGD_ID:11035249 12058691 SNW1 SNW domain containing 1 gene DOID:3459 breast carcinoma severity ISO RGD:1321977 D RGD:9068941 20200609 RGD protein:increased expression:breast (human) PMID:24150787|REF_RGD_ID:11035252 12058691 SNW1 SNW domain containing 1 gene DOID:630 genetic disease ISO RGD:1321977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058691 SNW1 SNW domain containing 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1321977 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:23696020|REF_RGD_ID:11035253 12058691 SNW1 SNW domain containing 1 gene DOID:9000998 Brain Injuries ISO RGD:1561926 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex (rat) PMID:22965216|REF_RGD_ID:11035237 12058691 SNW1 SNW domain containing 1 gene DOID:9008091 Optic Nerve Injuries ISO RGD:1561926 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:25074585|REF_RGD_ID:11035254 12058709 TIMM17B translocase of inner mitochondrial membrane 17B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12058709 TIMM17B translocase of inner mitochondrial membrane 17B gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1350623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12058709 TIMM17B translocase of inner mitochondrial membrane 17B gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1350623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12058709 TIMM17B translocase of inner mitochondrial membrane 17B gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1350623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12058709 TIMM17B translocase of inner mitochondrial membrane 17B gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1350623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12058709 TIMM17B translocase of inner mitochondrial membrane 17B gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1350623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12058709 TIMM17B translocase of inner mitochondrial membrane 17B gene DOID:12849 autistic disorder ISO RGD:1350623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12058709 TIMM17B translocase of inner mitochondrial membrane 17B gene DOID:630 genetic disease ISO RGD:1350623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058719 RNH1 ribonuclease/angiogenin inhibitor 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12058719 RNH1 ribonuclease/angiogenin inhibitor 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:735371 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12058719 RNH1 ribonuclease/angiogenin inhibitor 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:735371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12058719 RNH1 ribonuclease/angiogenin inhibitor 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12058719 RNH1 ribonuclease/angiogenin inhibitor 1 gene DOID:630 genetic disease ISO RGD:735371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058733 OR4D9 olfactory receptor family 4 subfamily D member 9 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12058733 OR4D9 olfactory receptor family 4 subfamily D member 9 gene DOID:1059 intellectual disability ISO RGD:1606644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12058733 OR4D9 olfactory receptor family 4 subfamily D member 9 gene DOID:630 genetic disease ISO RGD:1606644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058743 RNPEPL1 arginyl aminopeptidase like 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1352195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12058743 RNPEPL1 arginyl aminopeptidase like 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1352195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12058743 RNPEPL1 arginyl aminopeptidase like 1 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1352195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 12058743 RNPEPL1 arginyl aminopeptidase like 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1352195 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12058743 RNPEPL1 arginyl aminopeptidase like 1 gene DOID:1059 intellectual disability ISO RGD:1352195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12058743 RNPEPL1 arginyl aminopeptidase like 1 gene DOID:630 genetic disease ISO RGD:1352195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058743 RNPEPL1 arginyl aminopeptidase like 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1352195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12058759 KCTD10 potassium channel tetramerization domain containing 10 gene DOID:630 genetic disease ISO RGD:1347079 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058772 ZFHX4 zinc finger homeobox 4 gene DOID:630 genetic disease ISO RGD:1346362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058772 ZFHX4 zinc finger homeobox 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346362 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:16946494|PMID:21802062|PMID:24033266|PMID:24440720|PMID:25741868|PMID:33057194 12058772 ZFHX4 zinc finger homeobox 4 gene DOID:9004781 Congenital Ptosis, Hereditary 1 ISO RGD:1346362 D RGD:7240710 20180130 OMIM 12058772 ZFHX4 zinc finger homeobox 4 gene DOID:9004781 Congenital Ptosis, Hereditary 1 ISO RGD:1346362 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ptosis, hereditary congenital, 1 PMID:25741868|PMID:28492532 12058787 ACTL8 actin like 8 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602092 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12058787 ACTL8 actin like 8 gene DOID:630 genetic disease ISO RGD:1602092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058803 LRRC8C leucine rich repeat containing 8 VRAC subunit C gene DOID:2377 multiple sclerosis ISO RGD:1604274 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 12058803 LRRC8C leucine rich repeat containing 8 VRAC subunit C gene DOID:630 genetic disease ISO RGD:1604274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058818 DNM1 dynamin 1 gene DOID:0050562 West syndrome ISO RGD:733748 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: West syndrome PMID:25741868 12058818 DNM1 dynamin 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733748 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12058818 DNM1 dynamin 1 gene DOID:0050753 cerebellar ataxia ISO RGD:733748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:28492532|PMID:28554332|PMID:34386584 12058818 DNM1 dynamin 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1552716 D RGD:9068941 20200609 RGD PMID:27363778|REF_RGD_ID:11557016 12058818 DNM1 dynamin 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733748 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12058818 DNM1 dynamin 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:733748 D RGD:7240710 20180130 OMIM 12058818 DNM1 dynamin 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:733748 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 31B, autosomal recessive | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:10608808|PMID:11031245|PMID:11553700|PMID:17576681|PMID:18469812|PMID:19084268|PMID:20428113|PMID:20887364|PMID:22722545|PMID:23781021|PMID:23977156|PMID:25262651|PMID:25533962|PMID:25741868|PMID:25741869|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26611353|PMID:26865513|PMID:27066543|PMID:27806796|PMID:28135719|PMID:28492532|PMID:28554332|PMID:28667181|PMID:29264391|PMID:29314763|PMID:29397573|PMID:29427836|PMID:29668686|PMID:30097719|PMID:30455886|PMID:31920647|PMID:32909139|PMID:33004838|PMID:34172529|PMID:34386584|PMID:36413998|PMID:36553519|PMID:8335685|PMID:9536098 12058818 DNM1 dynamin 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:733748 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868|PMID:30097719|PMID:32909139|PMID:36413998 12058818 DNM1 dynamin 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733748 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12058818 DNM1 dynamin 1 gene DOID:10652 Alzheimer's disease ISO RGD:1552716 D RGD:9068941 20200609 RGD denntate gyrus, hippocampus, entorhinal cortex PMID:20847448|REF_RGD_ID:13506238 12058818 DNM1 dynamin 1 gene DOID:10652 Alzheimer's disease ISO RGD:71096 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus, temporal cortex PMID:20847448|REF_RGD_ID:13506238 12058818 DNM1 dynamin 1 gene DOID:10652 Alzheimer's disease ISO RGD:733748 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus,entorhinal cortex: PMID:20847448|REF_RGD_ID:13506238 12058818 DNM1 dynamin 1 gene DOID:1826 epilepsy ISO RGD:733748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 12058818 DNM1 dynamin 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1552716 D RGD:9068941 20220825 MouseDO OMIM:600669 | OMIM:604827 | OMIM:606972 | OMIM:607628 | OMIM:607682 | OMIM:608762 | OMIM:609750 | OMIM:611136 | OMIM:611934 | OMIM:612899 | OMIM:613060 | OMIM:614847 | OMIM:616685 12058818 DNM1 dynamin 1 gene DOID:630 genetic disease ISO RGD:733748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10608808|PMID:11031245|PMID:11553700|PMID:17576681|PMID:17636067|PMID:19084268|PMID:20428113|PMID:21927000|PMID:21962493|PMID:23584531|PMID:23781021|PMID:23977156|PMID:25262651|PMID:25312384|PMID:25533962|PMID:25741868|PMID:26302298|PMID:26467025|PMID:26611353|PMID:28135719|PMID:28492532|PMID:28667181|PMID:29314763|PMID:29427836|PMID:29668686|PMID:30455886|PMID:8335685|PMID:9536098 12058818 DNM1 dynamin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 12058818 DNM1 dynamin 1 gene DOID:9006855 Dog Diseases ISO RGD:733748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806795 12058818 DNM1 dynamin 1 gene DOID:9006878 Exercise Intolerance IAGP D RGD:12801476 20220119 OMIA Exercise-induced collapse PMID:18806795|PMID:9918153|PMID:21782486|PMID:19122058|PMID:18981194|PMID:22104507|PMID:21866517|PMID:23387942|PMID:23445289|PMID:24069350|PMID:27487345|PMID:27685362|PMID:30650096|PMID:34946876 12058818 DNM1 dynamin 1 gene DOID:9008582 Developmental Disease ISO RGD:733748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12058844 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1354498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12058844 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12058844 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:0080006 bone development disease ISO RGD:1354498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8955270 12058844 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1354498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12058844 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1354498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12058844 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:0112019 non-syndromic X-linked intellectual disability 19 ISO RGD:1354498 D RGD:7240710 20180130 OMIM 12058844 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:0112019 non-syndromic X-linked intellectual disability 19 ISO RGD:1354498 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 19 PMID:10319851|PMID:11180593|PMID:17100996|PMID:19377476|PMID:25741868|PMID:28492532 12058844 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:1059 intellectual disability ISO RGD:1354498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10094187|PMID:11180593|PMID:16879200|PMID:19377476|PMID:25741868|PMID:28492532 12058844 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:12849 autistic disorder ISO RGD:1354498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12058844 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1354498 D RGD:7240710 20180130 OMIM 12058844 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1354498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin syndrome | ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:10094187|PMID:10528858|PMID:11180593|PMID:11992250|PMID:12439904|PMID:12558110|PMID:14986828|PMID:15214012|PMID:16199547|PMID:16306095|PMID:16879200|PMID:17304053|PMID:17576681|PMID:17717706|PMID:18076117|PMID:18414213|PMID:19377476|PMID:19888300|PMID:25044551|PMID:25315662|PMID:25741868|PMID:26043507|PMID:26232052|PMID:28492532|PMID:29304373|PMID:30945684|PMID:31130284|PMID:31319225|PMID:32371413|PMID:5581017|PMID:8955270|PMID:9536098|PMID:9837815|PMID:9887375 12058844 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:630 genetic disease ISO RGD:1354498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10094187|PMID:11180593|PMID:11992250|PMID:16879200|PMID:18414213|PMID:19377476|PMID:22187936|PMID:25644381|PMID:25741868|PMID:26633542|PMID:28492532|PMID:8955270|PMID:9837815 12058844 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:684 hepatocellular carcinoma ISO RGD:1354498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561517 12058844 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1354498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21488662 12058844 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:9003133 Hypertelorism ISO RGD:1354498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 12058844 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12058844 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:9004507 Hirsutism ISO RGD:1354498 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirsutism PMID:25741868|PMID:28492532 12058844 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1354498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21488662 12058844 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:9008086 Developmental Disabilities ISO RGD:1354498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12058844 RPS6KA3 ribosomal protein S6 kinase A3 gene DOID:9008514 Psychomotor Disorders ISO RGD:1354498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8955270 12058882 GRIPAP1 GRIP1 associated protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12058882 GRIPAP1 GRIP1 associated protein 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:732724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12058882 GRIPAP1 GRIP1 associated protein 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:732724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12058882 GRIPAP1 GRIP1 associated protein 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:732724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12058882 GRIPAP1 GRIP1 associated protein 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:732724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12058882 GRIPAP1 GRIP1 associated protein 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:732724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12058882 GRIPAP1 GRIP1 associated protein 1 gene DOID:12849 autistic disorder ISO RGD:732724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12058882 GRIPAP1 GRIP1 associated protein 1 gene DOID:1826 epilepsy ISO RGD:732724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12058882 GRIPAP1 GRIP1 associated protein 1 gene DOID:630 genetic disease ISO RGD:732724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12058882 GRIPAP1 GRIP1 associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12058918 ERCC6L ERCC excision repair 6 like, spindle assembly checkpoint helicase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12058918 ERCC6L ERCC excision repair 6 like, spindle assembly checkpoint helicase gene DOID:12849 autistic disorder ISO RGD:1606557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12058918 ERCC6L ERCC excision repair 6 like, spindle assembly checkpoint helicase gene DOID:3907 lung squamous cell carcinoma ISO RGD:1606557 D RGD:9068941 20221006 RGD mRNA:increased expression:lung (human) PMID:35150321|REF_RGD_ID:155260359 12058918 ERCC6L ERCC excision repair 6 like, spindle assembly checkpoint helicase gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1606557 D RGD:9068941 20221006 RGD mRNA:increased expression:lung (human) PMID:35150321|REF_RGD_ID:155260359 12058918 ERCC6L ERCC excision repair 6 like, spindle assembly checkpoint helicase gene DOID:630 genetic disease ISO RGD:1606557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058918 ERCC6L ERCC excision repair 6 like, spindle assembly checkpoint helicase gene DOID:9256 colorectal cancer exacerbates ISO RGD:1606557 D RGD:9068941 20221020 RGD mRNA, protein:increased expression:colorectum (human) PMID:31289493|REF_RGD_ID:155598681 12058923 MTMR9 myotubularin related protein 9 gene DOID:630 genetic disease ISO RGD:735915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058923 MTMR9 myotubularin related protein 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12058942 CHRD chordin gene DOID:0111546 Currarino syndrome ISO RGD:1348275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12058942 CHRD chordin gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1348275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 12058942 CHRD chordin gene DOID:11198 DiGeorge syndrome ISO RGD:1550370 D RGD:9068941 20220825 MouseDO OMIM:188400 12058942 CHRD chordin gene DOID:12583 velocardiofacial syndrome ISO RGD:1550370 D RGD:9068941 20220825 MouseDO OMIM:192430 12058942 CHRD chordin gene DOID:630 genetic disease ISO RGD:1348275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12058984 FAP fibroblast activation protein alpha gene DOID:12849 autistic disorder ISO RGD:732069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 12058984 FAP fibroblast activation protein alpha gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732069 D RGD:9068941 20220526 RGD protein:increased expression: esophagus PMID:24789592|REF_RGD_ID:152600903 12058984 FAP fibroblast activation protein alpha gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:732069 D RGD:9068941 20220526 RGD PMID:26252379|REF_RGD_ID:152600901 12058984 FAP fibroblast activation protein alpha gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732069 D RGD:9068941 20220526 RGD PMID:29415055|REF_RGD_ID:152600902 12058984 FAP fibroblast activation protein alpha gene DOID:630 genetic disease ISO RGD:732069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059026 SCAND1 SCAN domain containing 1 gene DOID:630 genetic disease ISO RGD:1318355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059032 DENND11 DENN domain containing 11 gene DOID:0080690 RASopathy ISO RGD:1603618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12059032 DENND11 DENN domain containing 11 gene DOID:630 genetic disease ISO RGD:1603618 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059045 KIAA0825 KIAA0825 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12059045 KIAA0825 KIAA0825 gene DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome ISO RGD:1604483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome PMID:24462372 12059045 KIAA0825 KIAA0825 gene DOID:630 genetic disease ISO RGD:1604483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059045 KIAA0825 KIAA0825 gene DOID:9003071 Postaxial Polydactyly ISO RGD:1604483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic postaxial polydactyly PMID:30982135 12059045 KIAA0825 KIAA0825 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1604483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 PMID:30982135 12059045 KIAA0825 KIAA0825 gene DOID:9003540 Postaxial Polydactyly, Type A10 ISO RGD:1604483 D RGD:7240710 20190731 OMIM 12059045 KIAA0825 KIAA0825 gene DOID:9003540 Postaxial Polydactyly, Type A10 ISO RGD:1604483 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type a10 PMID:25741868|PMID:30982135|PMID:32147526 12059045 KIAA0825 KIAA0825 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12059045 KIAA0825 KIAA0825 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12059087 STIL STIL centriolar assembly protein gene DOID:0070278 primary autosomal recessive microcephaly 7 ISO RGD:1312720 D RGD:7240710 20180130 OMIM 12059087 STIL STIL centriolar assembly protein gene DOID:0070278 primary autosomal recessive microcephaly 7 ISO RGD:1312720 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microcephaly 7, primary, autosomal recessive PMID:18414213|PMID:19215732|PMID:20301772|PMID:22989186|PMID:23772360|PMID:24986681|PMID:25218063|PMID:25741868|PMID:26467025|PMID:26539891|PMID:26548919|PMID:26633542|PMID:28492532|PMID:33132204 12059087 STIL STIL centriolar assembly protein gene DOID:0080600 COVID-19 ISO RGD:1312720 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12059087 STIL STIL centriolar assembly protein gene DOID:1059 intellectual disability ISO RGD:1312720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12059087 STIL STIL centriolar assembly protein gene DOID:10907 microcephaly ISO RGD:1312720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary Microcephaly, Recessive 12059087 STIL STIL centriolar assembly protein gene DOID:11367 congenital aphakia ISO RGD:1312720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital primary aphakia PMID:28492532 12059087 STIL STIL centriolar assembly protein gene DOID:2661 myoepithelioma ISO RGD:1312720 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12059087 STIL STIL centriolar assembly protein gene DOID:630 genetic disease ISO RGD:1312720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:23772360|PMID:25741868|PMID:26467025|PMID:26539891|PMID:28492532 12059108 IKZF5 IKAROS family zinc finger 5 gene DOID:2340 craniosynostosis ISO RGD:1322164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 12059108 IKZF5 IKAROS family zinc finger 5 gene DOID:9003149 2-Methylbutyryl-CoA Dehydrogenase Deficiency ISO RGD:1322164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase PMID:28492532 12059108 IKZF5 IKAROS family zinc finger 5 gene DOID:9008457 Thrombocytopenia 7 ISO RGD:1322164 D RGD:7240710 20210113 OMIM 12059108 IKZF5 IKAROS family zinc finger 5 gene DOID:9008457 Thrombocytopenia 7 ISO RGD:1322164 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 7 PMID:25741868|PMID:31217188|PMID:32419556 12059120 TMEM119 transmembrane protein 119 gene DOID:630 genetic disease ISO RGD:1602276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059135 MYCT1 MYC target 1 gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1322941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:28492532 12059135 MYCT1 MYC target 1 gene DOID:630 genetic disease ISO RGD:1322941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059157 NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1322768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12059157 NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1322768 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12059157 NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1322768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12059157 NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:630 genetic disease ISO RGD:1322768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059157 NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1311354 D RGD:9068941 20200609 RGD associated with obesity PMID:20729114|REF_RGD_ID:13801195 12059157 NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12059157 NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:9870 galactosemia ISO RGD:1322768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12059157 NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:9970 obesity ISO RGD:1311354 D RGD:9068941 20200609 RGD mRNA:decreased expression:epididymal fat pad PMID:20559011|REF_RGD_ID:13822707 12059166 ZNF219 zinc finger protein 219 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1347695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12059166 ZNF219 zinc finger protein 219 gene DOID:630 genetic disease ISO RGD:1347695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059166 ZNF219 zinc finger protein 219 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1347695 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12059177 CCDC159 coiled-coil domain containing 159 gene DOID:0050990 episodic ataxia type 2 ISO RGD:3566767 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12059177 CCDC159 coiled-coil domain containing 159 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:3566767 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12059177 CCDC159 coiled-coil domain containing 159 gene DOID:0111254 glutaric acidemia I ISO RGD:3566767 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12059177 CCDC159 coiled-coil domain containing 159 gene DOID:3413 alpha-mannosidosis ISO RGD:3566767 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12059177 CCDC159 coiled-coil domain containing 159 gene DOID:630 genetic disease ISO RGD:3566767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059226 IVD isovaleryl-CoA dehydrogenase gene DOID:14753 isovaleric acidemia ISO RGD:735606 D RGD:7240710 20180130 OMIM 12059226 IVD isovaleryl-CoA dehydrogenase gene DOID:14753 isovaleric acidemia ISO RGD:735606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isovaleric acidemia, type I | ClinVar Annotator: match by term: Isovaleric acidemia, type II | ClinVar Annotator: match by term: Isovaleryl-CoA dehydrogenase deficiency PMID:10677295|PMID:10713113|PMID:110677295|PMID:12767731|PMID:1310317|PMID:15337167|PMID:15486829|PMID:16199547|PMID:16602101|PMID:16825284|PMID:17027310|PMID:17576084|PMID:17576681|PMID:19089597|PMID:19099814|PMID:20519759|PMID:2063866|PMID:22004070|PMID:22350545|PMID:22960500|PMID:2318964|PMID:24019846|PMID:24059531|PMID:24516753|PMID:24637313|PMID:25220015|PMID:25741868|PMID:26018748|PMID:26589311|PMID:26937393|PMID:27629047|PMID:27904153|PMID:28492532|PMID:28535199|PMID:29402417|PMID:30159853|PMID:30838026|PMID:30904546|PMID:31442447|PMID:31589614|PMID:31707166|PMID:32505769|PMID:32778825|PMID:32977617|PMID:33123633|PMID:33496032|PMID:33521113|PMID:33565069|PMID:34535384|PMID:9536098|PMID:9665741 12059226 IVD isovaleryl-CoA dehydrogenase gene DOID:2717 Bloom syndrome ISO RGD:735606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12059226 IVD isovaleryl-CoA dehydrogenase gene DOID:630 genetic disease ISO RGD:735606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10677295|PMID:15337167|PMID:15486829|PMID:16199547|PMID:16602101|PMID:17027310|PMID:17576084|PMID:19099814|PMID:22960500|PMID:24059531|PMID:24516753|PMID:25220015|PMID:25741868|PMID:26589311|PMID:26937393|PMID:27904153|PMID:28492532|PMID:28535199|PMID:31442447|PMID:31707166|PMID:32778825|PMID:32977617|PMID:33123633|PMID:33496032|PMID:9665741 12059226 IVD isovaleryl-CoA dehydrogenase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12059226 IVD isovaleryl-CoA dehydrogenase gene DOID:9252 amino acid metabolic disorder ISO RGD:735606 D RGD:9068941 20200609 RGD isovaleric acidemia, OMIM:243500 PMID:2063866|REF_RGD_ID:1600039 12059226 IVD isovaleryl-CoA dehydrogenase gene DOID:9256 colorectal cancer ISO RGD:735606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12059241 MIR7-3 microRNA mir-7-3 gene DOID:9351 diabetes mellitus exacerbates ISO RGD:2325434 D RGD:9068941 20230413 RGD RNA:increased expression:sciatic nerve: PMID:32544883|REF_RGD_ID:243065126 12059286 LOC106559671 olfactory receptor 14C36 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1353060 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12059286 LOC106559671 olfactory receptor 14C36 gene DOID:1540 parathyroid carcinoma ISO RGD:1353060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12059286 LOC106559671 olfactory receptor 14C36 gene DOID:630 genetic disease ISO RGD:1353060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059286 LOC106559671 olfactory receptor 14C36 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12059286 LOC106559671 olfactory receptor 14C36 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12059296 MOB3C MOB kinase activator 3C gene DOID:630 genetic disease ISO RGD:1317238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059322 RAB5A RAB5A, member RAS oncogene family gene DOID:0060417 3p deletion syndrome ISO RGD:1342715 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12059322 RAB5A RAB5A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1342715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059322 RAB5A RAB5A, member RAS oncogene family gene DOID:9007102 Myocardial Ischemia ISO RGD:1342715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12059332 RSRC1 arginine and serine rich coiled-coil 1 gene DOID:0081231 autosomal recessive intellectual developmental disorder 70 ISO RGD:1602488 D RGD:7240710 20190605 OMIM 12059332 RSRC1 arginine and serine rich coiled-coil 1 gene DOID:0081231 autosomal recessive intellectual developmental disorder 70 ISO RGD:1602488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 70 PMID:25741868|PMID:28640246|PMID:29522154|PMID:32227164 12059332 RSRC1 arginine and serine rich coiled-coil 1 gene DOID:5419 schizophrenia ISO RGD:1602488 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12059332 RSRC1 arginine and serine rich coiled-coil 1 gene DOID:630 genetic disease ISO RGD:1602488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059348 TMBIM6 transmembrane BAX inhibitor motif containing 6 gene DOID:10286 prostate carcinoma ISO RGD:736097 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:12875974|REF_RGD_ID:2291960 12059348 TMBIM6 transmembrane BAX inhibitor motif containing 6 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:3842 D RGD:9068941 20200609 RGD PMID:17054309|REF_RGD_ID:2291958 12059348 TMBIM6 transmembrane BAX inhibitor motif containing 6 gene DOID:3744 cervical squamous cell carcinoma disease_progression ISO RGD:736097 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:15337562|REF_RGD_ID:2291959 12059348 TMBIM6 transmembrane BAX inhibitor motif containing 6 gene DOID:630 genetic disease ISO RGD:736097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059348 TMBIM6 transmembrane BAX inhibitor motif containing 6 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:3842 D RGD:9068941 20200709 RGD mRNA,protein:decreased expression:brain PMID:30226536|REF_RGD_ID:35316073 12059348 TMBIM6 transmembrane BAX inhibitor motif containing 6 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:3842 D RGD:9068941 20200709 RGD PMID:30226536|REF_RGD_ID:35316073 12059348 TMBIM6 transmembrane BAX inhibitor motif containing 6 gene DOID:9004009 Reperfusion Injury ISO RGD:3842 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:18005084|REF_RGD_ID:2291961 12059365 PLCL1 phospholipase C like 1 (inactive) gene DOID:630 genetic disease ISO RGD:733121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059365 PLCL1 phospholipase C like 1 (inactive) gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:708420 D RGD:9068941 20220707 RGD mRNA:increased expression:liver (rat) PMID:19533683|REF_RGD_ID:2315050 12059365 PLCL1 phospholipase C like 1 (inactive) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12059381 SPATS2L spermatogenesis associated serine rich 2 like gene DOID:0060224 atrial fibrillation ISO RGD:1607063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12059381 SPATS2L spermatogenesis associated serine rich 2 like gene DOID:0080600 COVID-19 ISO RGD:1607063 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12059381 SPATS2L spermatogenesis associated serine rich 2 like gene DOID:630 genetic disease ISO RGD:1607063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059381 SPATS2L spermatogenesis associated serine rich 2 like gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1607063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12059381 SPATS2L spermatogenesis associated serine rich 2 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12059411 RANGRF RAN guanine nucleotide release factor gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1602892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12059411 RANGRF RAN guanine nucleotide release factor gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:28492532 12059411 RANGRF RAN guanine nucleotide release factor gene DOID:2729 dyskeratosis congenita ISO RGD:1602892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12059411 RANGRF RAN guanine nucleotide release factor gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1602892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12059411 RANGRF RAN guanine nucleotide release factor gene DOID:3910 lung adenocarcinoma ISO RGD:1602892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12059411 RANGRF RAN guanine nucleotide release factor gene DOID:630 genetic disease ISO RGD:1602892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12059411 RANGRF RAN guanine nucleotide release factor gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1602892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:17576681|PMID:21447824|PMID:22010171|PMID:25741868|PMID:26903377|PMID:28492532|PMID:30282806|PMID:9536098 12059411 RANGRF RAN guanine nucleotide release factor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1563195 D RGD:9068941 20200609 RGD PMID:8557821|REF_RGD_ID:6771380 12059411 RANGRF RAN guanine nucleotide release factor gene DOID:9006205 Animal Disease Models ISO RGD:1602892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12059423 LOC480264 magnesium-dependent phosphatase 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1601722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12059423 LOC480264 magnesium-dependent phosphatase 1 gene DOID:10283 prostate cancer ISO RGD:1601722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12059423 LOC480264 magnesium-dependent phosphatase 1 gene DOID:630 genetic disease ISO RGD:1601722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059423 LOC480264 magnesium-dependent phosphatase 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1601722 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12059423 LOC480264 magnesium-dependent phosphatase 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1601722 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12059433 SLC35B1 solute carrier family 35 member B1 gene DOID:630 genetic disease ISO RGD:1351742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059446 GABRA4 gamma-aminobutyric acid type A receptor subunit alpha4 gene DOID:12849 autistic disorder ISO RGD:734147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16080114|PMID:16770606 12059446 GABRA4 gamma-aminobutyric acid type A receptor subunit alpha4 gene DOID:12849 autistic disorder ISO RGD:734147 D RGD:9068941 20200609 RGD PMID:20066485|REF_RGD_ID:6480253 12059446 GABRA4 gamma-aminobutyric acid type A receptor subunit alpha4 gene DOID:12849 autistic disorder ISO RGD:734147 D RGD:9068941 20200609 RGD DNA:SNPs: :rs17599165, rs1912960,rs17599416,rs7660336, rs2280073,rs16859788 (human) PMID:16770606|REF_RGD_ID:6480254 12059446 GABRA4 gamma-aminobutyric acid type A receptor subunit alpha4 gene DOID:630 genetic disease ISO RGD:734147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059446 GABRA4 gamma-aminobutyric acid type A receptor subunit alpha4 gene DOID:9004866 Ataxia ISO RGD:734147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16091474 12059457 KDM4A lysine demethylase 4A gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1314960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12059457 KDM4A lysine demethylase 4A gene DOID:10283 prostate cancer ISO RGD:1314960 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate (human) PMID:22120715|REF_RGD_ID:9586733 12059457 KDM4A lysine demethylase 4A gene DOID:11054 urinary bladder cancer ISO RGD:1314960 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder (human) PMID:23603248|REF_RGD_ID:9587435 12059457 KDM4A lysine demethylase 4A gene DOID:1324 lung cancer ISO RGD:1314960 D RGD:9068941 20200609 RGD protein:increased expression:lung (human) PMID:23168260|REF_RGD_ID:9587434 12059457 KDM4A lysine demethylase 4A gene DOID:1612 breast cancer severity ISO RGD:1314960 D RGD:9068941 20200609 RGD mRNA:altered expression:breast (human) PMID:22199269|REF_RGD_ID:9586031 12059457 KDM4A lysine demethylase 4A gene DOID:1909 melanoma ISO RGD:1314960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 12059457 KDM4A lysine demethylase 4A gene DOID:5517 stomach carcinoma severity ISO RGD:1314960 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:gastric mucosa (human) PMID:24802408|REF_RGD_ID:9587437 12059457 KDM4A lysine demethylase 4A gene DOID:630 genetic disease ISO RGD:1314960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059457 KDM4A lysine demethylase 4A gene DOID:9003936 Cardiomegaly ISO RGD:1314961 D RGD:9068941 20200609 RGD PMID:21555854|REF_RGD_ID:9587422 12059457 KDM4A lysine demethylase 4A gene DOID:986 alopecia areata ISO RGD:1314960 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:21936853|REF_RGD_ID:9587460 12059496 PAXIP1 PAX interacting protein 1 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1316804 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 12059496 PAXIP1 PAX interacting protein 1 gene DOID:12849 autistic disorder ISO RGD:1316804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12059496 PAXIP1 PAX interacting protein 1 gene DOID:630 genetic disease ISO RGD:1316804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059535 SIRT7 sirtuin 7 gene DOID:418 systemic scleroderma ISO RGD:1314170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25707573 12059535 SIRT7 sirtuin 7 gene DOID:630 genetic disease ISO RGD:1314170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059535 SIRT7 sirtuin 7 gene DOID:9004009 Reperfusion Injury ISO RGD:1314170 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28675767 12059535 SIRT7 sirtuin 7 gene DOID:9452 fatty liver disease ISO RGD:1314170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24210820 12059557 OR4C3 olfactory receptor family 4 subfamily C member 3 gene DOID:1059 intellectual disability ISO RGD:1342934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12059561 SPRY1 sprouty RTK signaling antagonist 1 gene DOID:630 genetic disease ISO RGD:1319561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11983899 12059561 SPRY1 sprouty RTK signaling antagonist 1 gene DOID:9002488 Peritoneal Fibrosis ISO RGD:1309293 D RGD:9068941 20210129 RGD mRNA, protein:decreased expression:peritoneal fluid,tissue PMID:30515805|REF_RGD_ID:40925948 12059561 SPRY1 sprouty RTK signaling antagonist 1 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1319561 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 12059561 SPRY1 sprouty RTK signaling antagonist 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12059570 NCKAP5 NCK associated protein 5 gene DOID:13938 amenorrhea ISO RGD:1625092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12059570 NCKAP5 NCK associated protein 5 gene DOID:576 proteinuria ISO RGD:1564507 D RGD:9068941 20200609 RGD PMID:21257920|REF_RGD_ID:12798539 12059570 NCKAP5 NCK associated protein 5 gene DOID:630 genetic disease ISO RGD:1625092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059594 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1349345 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12059594 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:0112365 spondylocostal dysostosis 1 ISO RGD:1349345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive PMID:25741868|PMID:28492532 12059594 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:10907 microcephaly ISO RGD:1349345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12059594 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:11193 syndactyly ISO RGD:1349345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndactyly PMID:25741868|PMID:28492532 12059594 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1349345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12059594 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1349345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12059594 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:2340 craniosynostosis ISO RGD:1349345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12059594 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:630 genetic disease ISO RGD:1349345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12059594 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1349345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12059594 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12059594 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:9009169 LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA ISO RGD:1349345 D RGD:7240710 20190315 OMIM 12059594 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:9009169 LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA ISO RGD:1349345 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia PMID:25741868|PMID:26573021|PMID:28492532|PMID:34326120 12059594 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:9269 maple syrup urine disease ISO RGD:1349345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12059594 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349345 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12059625 USP40 ubiquitin specific peptidase 40 gene DOID:0060476 Perlman syndrome ISO RGD:1320045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12059625 USP40 ubiquitin specific peptidase 40 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1320045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12059625 USP40 ubiquitin specific peptidase 40 gene DOID:630 genetic disease ISO RGD:1320045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059651 CHEK2 checkpoint kinase 2 gene DOID:0050671 female breast cancer susceptibility ISO RGD:732861 D RGD:9068941 20220609 RGD DNA:missense mutation:cds: (human) PMID:30303537|REF_RGD_ID:152995259 12059651 CHEK2 checkpoint kinase 2 gene DOID:0050922 gastrointestinal carcinoma ISO RGD:732861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Gastrointestinal carcinoma PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11571648|PMID:11719428|PMID:11901158|PMID:12049740|PMID:12533788|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15239132|PMID:15492928|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16574953|PMID:16816021|PMID:16835864|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18281249|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19782031|PMID:19876921|PMID:20223004|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21876083|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:23296741|PMID:23713947|PMID:24506336|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24880342|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26467025|PMID:26681312|PMID:26687385|PMID:26845104|PMID:27153395|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27782108|PMID:27783279|PMID:27878467|PMID:28492532|PMID:29978187|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31409080|PMID:31844177|PMID:32243226|PMID:32255556|PMID:33670479|PMID:33986034 12059651 CHEK2 checkpoint kinase 2 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:732861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26506619 12059651 CHEK2 checkpoint kinase 2 gene DOID:0060180 colitis ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colitis PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15492928|PMID:15520402|PMID:16257342|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687 12059651 CHEK2 checkpoint kinase 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732861 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 12059651 CHEK2 checkpoint kinase 2 gene DOID:0080412 familial adenomatous polyposis 4 ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 4 PMID:24356096|PMID:25318351|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28577310|PMID:30851065|PMID:31206626|PMID:33471991 12059651 CHEK2 checkpoint kinase 2 gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:24728327|PMID:25741868|PMID:28492532|PMID:30344923|PMID:32658311|PMID:33471991 12059651 CHEK2 checkpoint kinase 2 gene DOID:0111252 neurofibromatosis 2 ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 12059651 CHEK2 checkpoint kinase 2 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 PMID:25741868|PMID:26467025|PMID:28492532 12059651 CHEK2 checkpoint kinase 2 gene DOID:0111504 Li-Fraumeni syndrome 2 ISO RGD:732861 D RGD:7240710 20230517 OMIM 12059651 CHEK2 checkpoint kinase 2 gene DOID:0111504 Li-Fraumeni syndrome 2 ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Li-Fraumeni syndrome 2 PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28082821|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29335925|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29684080|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30980208|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571 12059651 CHEK2 checkpoint kinase 2 gene DOID:0111504 Li-Fraumeni syndrome 2 ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Li-Fraumeni syndrome 2 PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32068069|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32885271|PMID:32900738|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33050356|PMID:33077847|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35220195|PMID:35264596|PMID:35643632|PMID:36136322|PMID:36988593|PMID:9536098 12059651 CHEK2 checkpoint kinase 2 gene DOID:10283 prostate cancer ISO RGD:732861 D RGD:7240710 20230517 OMIM 12059651 CHEK2 checkpoint kinase 2 gene DOID:10283 prostate cancer ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer | ClinVar Annotator: match by term: Prostate cancer, susceptibility to PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29335925|PMID:29351919|PMID:29356917|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29700698|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30613976|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30826992|PMID:30851065|PMID:30927251|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31512090|PMID:31614935|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32183364|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32805687|PMID:32830346 12059651 CHEK2 checkpoint kinase 2 gene DOID:10283 prostate cancer ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer | ClinVar Annotator: match by term: Prostate cancer, susceptibility to PMID:32832836|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33077847|PMID:33134171|PMID:33158149|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34072659|PMID:34299313|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35264596|PMID:36988593 12059651 CHEK2 checkpoint kinase 2 gene DOID:10283 prostate cancer susceptibility ISO RGD:732861 D RGD:9068941 20230518 RGD DNA:mutations: :multiple PMID:17085682|REF_RGD_ID:2289707 12059651 CHEK2 checkpoint kinase 2 gene DOID:10534 stomach cancer ISO RGD:732861 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11571648|PMID:11719428|PMID:11901158|PMID:12049740|PMID:12610780|PMID:12909615|PMID:15239132|PMID:15535844|PMID:16199547|PMID:16982735|PMID:17721994|PMID:18004398|PMID:18725978|PMID:21244692|PMID:21876083|PMID:22114986|PMID:22419737|PMID:23334666|PMID:24506336|PMID:24549055|PMID:24713400|PMID:24728327|PMID:24879340|PMID:25186627|PMID:25318351|PMID:25503501|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27067391|PMID:27708748|PMID:27751358|PMID:28492532|PMID:28724667|PMID:28779002|PMID:28783718|PMID:28888541|PMID:28944238|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29356917|PMID:29470806|PMID:29479983|PMID:29520813|PMID:29684080|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30680046|PMID:30851065|PMID:30967556|PMID:31056428|PMID:31214711|PMID:31263054|PMID:31360903|PMID:31497750|PMID:31650100|PMID:32029870|PMID:32091409|PMID:32295079|PMID:32427313|PMID:32658311|PMID:32761968|PMID:32906215|PMID:32923877|PMID:33471991|PMID:33558524|PMID:33789101|PMID:34299313|PMID:35643632|PMID:36988593 12059651 CHEK2 checkpoint kinase 2 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:732861 D RGD:9068941 20200609 RGD DNA:mutations: :multiple PMID:17918154|REF_RGD_ID:2289704 12059651 CHEK2 checkpoint kinase 2 gene DOID:11054 urinary bladder cancer treatment ISO RGD:621543 D RGD:9068941 20200609 RGD PMID:21396995|REF_RGD_ID:10401655 12059651 CHEK2 checkpoint kinase 2 gene DOID:1115 sarcoma ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:15145354|PMID:21876083|PMID:24713400|PMID:25741868|PMID:28492532 12059651 CHEK2 checkpoint kinase 2 gene DOID:14566 disease of cellular proliferation ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cancer of multiple types, susceptibility to | ClinVar Annotator: match by term: Neoplasms PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11571648|PMID:11719428|PMID:11901158|PMID:12049740|PMID:12533788|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15239132|PMID:15492928|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16574953|PMID:16816021|PMID:16835864|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18281249|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19782031|PMID:19876921|PMID:20223004|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21876083|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:23296741|PMID:23713947|PMID:24506336|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24880342|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26467025|PMID:26681312|PMID:26687385|PMID:26845104|PMID:27153395|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27782108|PMID:27783279|PMID:27878467|PMID:28492532|PMID:29978187|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31844177|PMID:32243226|PMID:32255556|PMID:33670479|PMID:33986034 12059651 CHEK2 checkpoint kinase 2 gene DOID:14566 disease of cellular proliferation ISO RGD:732861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cancer of multiple types, susceptibility to | ClinVar Annotator: match by term: Neoplasm PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11571648|PMID:11719428|PMID:11901158|PMID:12049740|PMID:12533788|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15239132|PMID:15492928|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16574953|PMID:16816021|PMID:16835864|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18281249|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19782031|PMID:19876921|PMID:20223004|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21876083|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:23296741|PMID:23713947|PMID:24506336|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24880342|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26446916|PMID:26467025|PMID:26681312|PMID:26687385|PMID:26822949|PMID:26845104|PMID:27153395|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27782108|PMID:27783279|PMID:27878467|PMID:28211887|PMID:28492532|PMID:28727877|PMID:28779002|PMID:28802053|PMID:28873162|PMID:29902706|PMID:29958926|PMID:29978187|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31843900|PMID:31844177|PMID:32243226|PMID:32255556|PMID:32295079|PMID:33670479|PMID:33986034 12059651 CHEK2 checkpoint kinase 2 gene DOID:14566 disease of cellular proliferation ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cancer of multiple types, susceptibility to PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11571648|PMID:11719428|PMID:11901158|PMID:12049740|PMID:12533788|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15239132|PMID:15492928|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16574953|PMID:16816021|PMID:16835864|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18281249|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19782031|PMID:19876921|PMID:20223004|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21876083|PMID:22058216|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:23296741|PMID:23713947|PMID:24506336|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24880342|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26446916|PMID:26467025|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26822949|PMID:26845104|PMID:27153395|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27782108|PMID:27783279|PMID:27878467|PMID:28211887|PMID:28492532|PMID:28727877|PMID:28779002|PMID:28802053|PMID:28873162|PMID:29520813|PMID:29902706|PMID:29958926|PMID:29978187|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30851065|PMID:30927251|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31360903|PMID:31409080|PMID:31447099|PMID:31843900|PMID:31844177|PMID:32243226|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32885271|PMID:33077847|PMID:33670479|PMID:33726816|PMID:33986034|PMID:34308366|PMID:34570182 12059651 CHEK2 checkpoint kinase 2 gene DOID:1520 colon carcinoma ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:14612911|PMID:15087378|PMID:17721994|PMID:18571837|PMID:21244692|PMID:23960188|PMID:24390236|PMID:25186627|PMID:25231023|PMID:25741868|PMID:26467025|PMID:26787654|PMID:27153395|PMID:27443514|PMID:27595995|PMID:27779110|PMID:27878467|PMID:28492532|PMID:28779002|PMID:28828701|PMID:29335925|PMID:29484706|PMID:29522266|PMID:29875428|PMID:29987844|PMID:30303537|PMID:30322893|PMID:30613976|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31214250|PMID:31220302|PMID:31409080|PMID:31512090|PMID:31811167|PMID:33134171|PMID:33558524 12059651 CHEK2 checkpoint kinase 2 gene DOID:1588 thrombocytopenia ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15492928|PMID:15520402|PMID:16257342|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687 12059651 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:7240710 20230517 OMIM 12059651 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31159747 12059651 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31472684|PMID:31512090|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32906215|PMID:32923877|PMID:32957588|PMID:3313277|PMID:33134171|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:9536098 12059651 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27854218|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30976395|PMID:31050813|PMID:31090900 12059651 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34011307|PMID:9536098 12059651 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30851065|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813 12059651 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31090900|PMID:31118792|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31742824|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32830346|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:33050356|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33326660|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34011307|PMID:34903604|PMID:35264596|PMID:9536098 12059651 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157 12059651 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30851065|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:33050356|PMID:33077847|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34011307|PMID:34072659|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35264596|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:9536098 12059651 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25326637|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157 12059651 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157 12059651 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30851065|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:33050356|PMID:33077847|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34011307|PMID:34072659|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35264596|PMID:35402282|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36988593|PMID:9536098 12059651 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer susceptibility ISO RGD:732861 D RGD:9068941 20230518 RGD DNA:deletion: ;1100delC PMID:11967536|REF_RGD_ID:1599601 12059651 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer susceptibility ISO RGD:732861 D RGD:9068941 20230518 RGD DNA:loss of heterozygosity PMID:17145815|REF_RGD_ID:2289706 12059651 CHEK2 checkpoint kinase 2 gene DOID:1612 breast cancer susceptibility ISO RGD:732861 D RGD:9068941 20230518 RGD DNA:missense mutations:p.I157T and p.S428F PMID:18085035|REF_RGD_ID:2289703 12059651 CHEK2 checkpoint kinase 2 gene DOID:1614 male breast cancer no_association ISO RGD:732861 D RGD:9068941 20200609 RGD DNA:deletion: :1100delC PMID:17661168|REF_RGD_ID:2289705 12059651 CHEK2 checkpoint kinase 2 gene DOID:1614 male breast cancer susceptibility ISO RGD:732861 D RGD:9068941 20200609 RGD DNA:deletion: :1100delC PMID:11967536|REF_RGD_ID:1599601 12059651 CHEK2 checkpoint kinase 2 gene DOID:1909 melanoma ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Melanoma PMID:12533788|PMID:15087378|PMID:15095295|PMID:15492928|PMID:15810020|PMID:17085682|PMID:19030985|PMID:21876083|PMID:22058216|PMID:23296741|PMID:24713400|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25980754|PMID:26084796|PMID:26446916|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26822949|PMID:26845104|PMID:27153395|PMID:27616075|PMID:27751358|PMID:28211887|PMID:28492532|PMID:28727877|PMID:28779002|PMID:28802053|PMID:28873162|PMID:29520813|PMID:29902706|PMID:29958926|PMID:30322717|PMID:30426508|PMID:30676620|PMID:30927251|PMID:31159747|PMID:31263571|PMID:31360903|PMID:31447099|PMID:31843900|PMID:32295079|PMID:32338768|PMID:32885271|PMID:33077847|PMID:33726816|PMID:34308366|PMID:34570182 12059651 CHEK2 checkpoint kinase 2 gene DOID:1967 leiomyosarcoma ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leiomyosarcoma PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15492928|PMID:15520402|PMID:16257342|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687 12059651 CHEK2 checkpoint kinase 2 gene DOID:2154 nephroblastoma ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephroblastoma PMID:10617473|PMID:11719428|PMID:11967536|PMID:15492928|PMID:18759107|PMID:19030985|PMID:20722467|PMID:21244692|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22520019|PMID:22691310|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23329222|PMID:23409019|PMID:23415889|PMID:24723567|PMID:26822237 12059651 CHEK2 checkpoint kinase 2 gene DOID:219 colon cancer ISO RGD:732861 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:15095295|PMID:21244692|PMID:22114986|PMID:22419737|PMID:22862163|PMID:23552953|PMID:24595525|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26787654|PMID:26845104|PMID:27443514|PMID:27621404|PMID:27751358|PMID:27779110|PMID:28008555|PMID:28135145|PMID:28492532|PMID:28495237|PMID:28944238|PMID:29368341|PMID:29520813|PMID:29922827|PMID:29945567|PMID:30128536|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31341520|PMID:31398194|PMID:31784482|PMID:32227564|PMID:32830346|PMID:33471991|PMID:36136322 12059651 CHEK2 checkpoint kinase 2 gene DOID:2394 ovarian cancer ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer PMID:17145815|PMID:21153778|PMID:21681852|PMID:21876083|PMID:24713400|PMID:24728327|PMID:25741868|PMID:26023681|PMID:26467025|PMID:27039729|PMID:27510020|PMID:28492532|PMID:28724667|PMID:28779002|PMID:29356917|PMID:30851065|PMID:31398194|PMID:31589614|PMID:32658311|PMID:32885271|PMID:32923906|PMID:33471991|PMID:34371384|PMID:34903604 12059651 CHEK2 checkpoint kinase 2 gene DOID:2871 endometrial carcinoma ISO RGD:732861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:12533788|PMID:15087378|PMID:15095295|PMID:15492928|PMID:15810020|PMID:17085682|PMID:17576681|PMID:19030985|PMID:21876083|PMID:22058216|PMID:22114986|PMID:23296741|PMID:24713400|PMID:25186627|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25980754|PMID:26084796|PMID:26094658|PMID:26446916|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26822949|PMID:26845104|PMID:27153395|PMID:27616075|PMID:27751358|PMID:28211887|PMID:28492532|PMID:28727877|PMID:28779002|PMID:28802053|PMID:28873162|PMID:29520813|PMID:29785007|PMID:29902706|PMID:29958926|PMID:30264118|PMID:30303537|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30676620|PMID:30851065|PMID:30927251|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31360903|PMID:31422574|PMID:31447099|PMID:31843900|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32885271|PMID:32906215|PMID:33050356|PMID:33077847|PMID:33726816|PMID:34308366|PMID:34570182|PMID:35155181|PMID:9536098 12059651 CHEK2 checkpoint kinase 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:732861 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12610780|PMID:12690581|PMID:15087378|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:16257342|PMID:16492927|PMID:16880452|PMID:16982735|PMID:17085682|PMID:17721994|PMID:18172190|PMID:19338683|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23946381|PMID:24033266|PMID:24549055|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29356917|PMID:29479983|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29684080|PMID:29909568|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30851065|PMID:30967556|PMID:31214711|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32906215 12059651 CHEK2 checkpoint kinase 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12610780|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:16257342|PMID:16492927|PMID:16880452|PMID:16982735|PMID:17085682|PMID:17721994|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24549055|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26506619|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29356917|PMID:29479983|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29684080|PMID:29909568|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30851065|PMID:30967556|PMID:31214711|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32906215|PMID:33471991 12059651 CHEK2 checkpoint kinase 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12610780|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:16257342|PMID:16492927|PMID:16880452|PMID:16982735|PMID:17085682|PMID:17721994|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24549055|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26506619|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29356917|PMID:29479983|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29684080|PMID:29909568|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30851065|PMID:30967556|PMID:31214711|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32906215|PMID:32923877|PMID:33471991|PMID:33789101|PMID:35643632|PMID:36988593 12059651 CHEK2 checkpoint kinase 2 gene DOID:3070 high grade glioma ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15492928|PMID:15520402|PMID:16257342|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687 12059651 CHEK2 checkpoint kinase 2 gene DOID:3168 squamous cell neoplasm ISO RGD:732861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24880342 12059651 CHEK2 checkpoint kinase 2 gene DOID:3308 embryonal carcinoma ISO RGD:732861 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:11593395|REF_RGD_ID:2298484 12059651 CHEK2 checkpoint kinase 2 gene DOID:3347 osteosarcoma ISO RGD:732861 D RGD:7240710 20230517 OMIM 12059651 CHEK2 checkpoint kinase 2 gene DOID:3347 osteosarcoma ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteosarcoma, somatic PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24556621|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28709830|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29335925|PMID:29351919|PMID:29356917|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30826992|PMID:30851065|PMID:30927251|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31512090|PMID:31614935|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33077847|PMID:33134171|PMID:33158149|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33986034|PMID:34299313|PMID:34308366 12059651 CHEK2 checkpoint kinase 2 gene DOID:3347 osteosarcoma ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Osteosarcoma, somatic PMID:34570182|PMID:34622392|PMID:34903604|PMID:35264596|PMID:36988593 12059651 CHEK2 checkpoint kinase 2 gene DOID:3376 bone osteosarcoma ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24556621|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28709830|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29335925|PMID:29351919|PMID:29356917|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30826992|PMID:30851065|PMID:30927251|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31512090|PMID:31614935|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33077847|PMID:33134171|PMID:33158149|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33692755|PMID:33726816 12059651 CHEK2 checkpoint kinase 2 gene DOID:3376 bone osteosarcoma ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:33986034|PMID:34299313|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35264596|PMID:36988593 12059651 CHEK2 checkpoint kinase 2 gene DOID:3459 breast carcinoma ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15810020|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16880452|PMID:17085682|PMID:17576681|PMID:18172190|PMID:18759107|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21244692|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22862163|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24595525|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25452411|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25980754|PMID:26023681|PMID:26084796|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27039729|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27443514|PMID:27510020|PMID:27616075|PMID:27621404|PMID:27751358|PMID:27779110|PMID:27798748|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:29146883|PMID:29335925|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29406849|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:30128536|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30580288|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30858171|PMID:30927251|PMID:30980208|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31589614|PMID:31784482|PMID:31843900|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32531112|PMID:32658311|PMID:32805687|PMID:32830346|PMID:32885271|PMID:32900738|PMID:32906215|PMID:33077847|PMID:33471991|PMID:33558524|PMID:33726816|PMID:33919281|PMID:33925588|PMID:33980423|PMID:34308366|PMID:34433815|PMID:34570182|PMID:34903604|PMID:35220195|PMID:36136322|PMID:9536098 12059651 CHEK2 checkpoint kinase 2 gene DOID:3948 adrenocortical carcinoma ISO RGD:732861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11571648|PMID:11719428|PMID:11901158|PMID:12049740|PMID:12533788|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15239132|PMID:15492928|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16574953|PMID:16816021|PMID:16835864|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18281249|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19782031|PMID:19876921|PMID:20223004|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21876083|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:23296741|PMID:23713947|PMID:24506336|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24880342|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26467025|PMID:26681312|PMID:26687385|PMID:26845104|PMID:27153395|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27782108|PMID:27783279|PMID:27878467|PMID:28492532|PMID:29978187|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31409080|PMID:31844177|PMID:32243226|PMID:32255556|PMID:33670479|PMID:33986034 12059651 CHEK2 checkpoint kinase 2 gene DOID:4001 ovarian carcinoma ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:16199547|PMID:21876083|PMID:24713400|PMID:28492532 12059651 CHEK2 checkpoint kinase 2 gene DOID:4440 seminoma ISO RGD:732861 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:11593395|REF_RGD_ID:2298484 12059651 CHEK2 checkpoint kinase 2 gene DOID:4905 pancreatic carcinoma ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15492928|PMID:15520402|PMID:16257342|PMID:16492927|PMID:16794575|PMID:16880452|PMID:17085682|PMID:17576681|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21244692|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29785007|PMID:29909568|PMID:30128536|PMID:30264118|PMID:30303537|PMID:30322717|PMID:30851065|PMID:31050813|PMID:31118792|PMID:31300551|PMID:31422574|PMID:31843900|PMID:31993860|PMID:32068069|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32658311|PMID:32805687|PMID:32860008|PMID:32906215|PMID:33050356|PMID:33471991|PMID:35155181|PMID:9536098 12059651 CHEK2 checkpoint kinase 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:732861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:20713355|PMID:22114986|PMID:25503501|PMID:25619829|PMID:25741868|PMID:25980754|PMID:26467025|PMID:27553368|PMID:27751358|PMID:28492532|PMID:29522266|PMID:29922827|PMID:30441849|PMID:30613976|PMID:30851065|PMID:31398194|PMID:32183364|PMID:32957588|PMID:33471991|PMID:33919281|PMID:33925588|PMID:34072659|PMID:34903604 12059651 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909963|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054 12059651 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31472684|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32383162|PMID:32531112|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33134171|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:9536098 12059651 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958 12059651 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30851065|PMID:30975761|PMID:30976395|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34404389|PMID:35155181|PMID:9536098 12059651 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046 12059651 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34404389|PMID:34903604|PMID:35155181|PMID:9536098 12059651 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594 12059651 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34404389|PMID:34903604|PMID:35155181|PMID:9536098 12059651 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34404389|PMID:34903604|PMID:35155181|PMID:35264596|PMID:9536098 12059651 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23381312|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:2723131|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582 12059651 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34404389|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35264596|PMID:9536098 12059651 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23381312|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:2723131|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976 12059651 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32986223|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34404389|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35264596|PMID:35402282|PMID:36136322|PMID:9536098 12059651 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849 12059651 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30927251|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34404389|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:36136322|PMID:9536098 12059651 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508 12059651 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34404389|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35643632|PMID:36136322|PMID:9536098 12059651 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823 12059651 CHEK2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34404389|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35643632|PMID:36011273|PMID:36136322|PMID:36988593|PMID:9536098 12059651 CHEK2 checkpoint kinase 2 gene DOID:6000 congestive heart failure ISO RGD:732861 D RGD:9068941 20200609 RGD protein:increased phosphorylation:heart myocardium PMID:12702777|REF_RGD_ID:2289708 12059651 CHEK2 checkpoint kinase 2 gene DOID:630 genetic disease ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12052256|PMID:16199547|PMID:21876083|PMID:22419737|PMID:24713400|PMID:25741868|PMID:26206375|PMID:26467025|PMID:28492532|PMID:28779002 12059651 CHEK2 checkpoint kinase 2 gene DOID:769 neuroblastoma ISO RGD:732861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334666 12059651 CHEK2 checkpoint kinase 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:732861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12059651 CHEK2 checkpoint kinase 2 gene DOID:9000357 Male Breast Neoplasms ISO RGD:732861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11967536 12059651 CHEK2 checkpoint kinase 2 gene DOID:9000466 Prostate Cancer, Somatic ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prostate cancer, somatic PMID:12454775|PMID:12533788|PMID:15095295|PMID:15239132|PMID:15818573|PMID:16835864|PMID:16941491|PMID:16982735|PMID:18058223|PMID:18996005|PMID:19782031|PMID:21059199|PMID:21244692|PMID:21744992|PMID:21876083|PMID:22114986|PMID:22419737|PMID:23334666|PMID:24713400|PMID:25186627|PMID:25318351|PMID:25525159|PMID:25629968|PMID:25741868|PMID:26467025|PMID:26506619|PMID:26580448|PMID:26787654|PMID:26976419|PMID:27595995|PMID:27616075|PMID:27978560|PMID:28125078|PMID:28135145|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29520813|PMID:29522266|PMID:29752822|PMID:30086788|PMID:30287823|PMID:30303537|PMID:30826992|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31614935|PMID:31780696|PMID:32566746|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32980694|PMID:33471991|PMID:33692755|PMID:34711244|PMID:34903604|PMID:35980532 12059651 CHEK2 checkpoint kinase 2 gene DOID:9000918 Disease Progression ISO RGD:732861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12059651 CHEK2 checkpoint kinase 2 gene DOID:9002265 Kidney Neoplasms onset ISO RGD:621543 D RGD:9068941 20200609 RGD protein:increased phosphorylation:kidney outer medulla outer stripe (rat) PMID:22411272|REF_RGD_ID:10401643 12059651 CHEK2 checkpoint kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12533788 12059651 CHEK2 checkpoint kinase 2 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:732861 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity PMID:17145815|REF_RGD_ID:2289706 12059651 CHEK2 checkpoint kinase 2 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:732861 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.I157T PMID:16828850|REF_RGD_ID:2298482 12059651 CHEK2 checkpoint kinase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:16794575|PMID:21244692|PMID:22419737|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27751358|PMID:28486781|PMID:28492532|PMID:28580595|PMID:30128536|PMID:30303537|PMID:30322717|PMID:30851065|PMID:31050813|PMID:31118792|PMID:32068069|PMID:32658311|PMID:32860008|PMID:33050356|PMID:33471991 12059651 CHEK2 checkpoint kinase 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:732861 D RGD:9068941 20200609 RGD PMID:18299147|REF_RGD_ID:2296067 12059651 CHEK2 checkpoint kinase 2 gene DOID:9004265 Endometrioid Carcinomas susceptibility ISO RGD:732861 D RGD:9068941 20200609 RGD PMID:17164260|REF_RGD_ID:2293868 12059651 CHEK2 checkpoint kinase 2 gene DOID:9005172 Lung Neoplasms ISO RGD:732861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24880342 12059651 CHEK2 checkpoint kinase 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary prostate cancer PMID:21876083|PMID:24713400|PMID:25741868|PMID:26467025|PMID:27083775|PMID:28492532|PMID:30128536|PMID:31844177|PMID:32805687|PMID:33471991 12059651 CHEK2 checkpoint kinase 2 gene DOID:9005804 Vulvar Neoplasms ISO RGD:732861 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:252A>G PMID:11875739|REF_RGD_ID:2298483 12059651 CHEK2 checkpoint kinase 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:621543 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle (rat) PMID:25129990|REF_RGD_ID:10400905 12059651 CHEK2 checkpoint kinase 2 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Triple-negative breast cancer PMID:26328243|PMID:28492532 12059651 CHEK2 checkpoint kinase 2 gene DOID:9006911 Congenital Heart Defects, Multiple Types, 3 ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 3 PMID:21876083|PMID:24713400|PMID:25741868|PMID:26467025|PMID:26580448|PMID:27751358|PMID:28492532|PMID:28724667|PMID:28779002|PMID:29356917|PMID:29922827|PMID:30287823|PMID:30303537|PMID:32658311|PMID:33558524|PMID:34299313|PMID:36988593 12059651 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10617473|PMID:10973490|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21348412|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21765476|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23298314|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26752676|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002 12059651 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32383162|PMID:32531112|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32906215|PMID:32923877|PMID:32957588|PMID:3313277|PMID:33134171|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33986034|PMID:34008015|PMID:34371384|PMID:9536098|PMID:9836640 12059651 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10617473|PMID:10973490|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23298314|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26752676|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053 12059651 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32854451|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:33050356|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34903604|PMID:35155181|PMID:9536098|PMID:9836640 12059651 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32854451|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:33050356|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34903604|PMID:35155181|PMID:9536098|PMID:9836640 12059651 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10617473|PMID:10973490|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23298314|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23381312|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26752676|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:2723131|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002 12059651 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:33050356|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34711244|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35264596|PMID:9536098|PMID:9836640 12059651 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10617473|PMID:10973490|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23298314|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23381312|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26752676|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:2723131|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916 12059651 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:33050356|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34711244|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35264596|PMID:9536098|PMID:9836640 12059651 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:17918214|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23298314|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23381312|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24686850|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26752676|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:2723131|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28608266 12059651 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34034685|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34622392|PMID:34711244|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35264596|PMID:35402282|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:9536098|PMID:9836640 12059651 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:17918214|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24686850|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26752676|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28104920|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595 12059651 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34034685|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34622392|PMID:34711244|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:9536098|PMID:9836640 12059651 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28555940|PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33646313|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34034685|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34622392|PMID:34711244|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:9536098|PMID:9836640 12059651 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:17918214|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20722467|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21348412|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21765476|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24686850|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26752676|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28104920|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940 12059651 CHEK2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34034685|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34622392|PMID:34711244|PMID:34771502|PMID:34903604|PMID:34991090|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36315513|PMID:36988593|PMID:9536098|PMID:9836640 12059651 CHEK2 checkpoint kinase 2 gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy PMID:28492532 12059651 CHEK2 checkpoint kinase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12690581 12059651 CHEK2 checkpoint kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15145354|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16880452|PMID:16883537|PMID:16914568|PMID:17085682|PMID:17721994|PMID:18085035|PMID:18172190|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21244692|PMID:21618645|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22862163|PMID:22994785|PMID:23318652|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24390236|PMID:24506336|PMID:24595525|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25884806|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26641009|PMID:26681312|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27621404|PMID:27751358|PMID:27779110|PMID:27798748|PMID:27806230|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29338689|PMID:29351919|PMID:29368341|PMID:29470806|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29625052|PMID:29667044|PMID:29785153|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30426508|PMID:30676620|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31472684|PMID:31742824|PMID:31784482|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32091409|PMID:32119081|PMID:32227564|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32566746|PMID:32805687|PMID:32830346|PMID:32885271|PMID:33471974|PMID:33471991|PMID:34308366|PMID:34622392|PMID:35264596|PMID:36136322 12059651 CHEK2 checkpoint kinase 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11733767|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15145354|PMID:15239132|PMID:15279791|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16897426|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:17918214|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19763152|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20307669|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21348412|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21765476|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22406018|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25330149|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25640679|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26752676|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28104920|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237 12059651 CHEK2 checkpoint kinase 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33257031|PMID:33260537|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34034685|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34622392|PMID:34711244|PMID:34771502|PMID:34903604|PMID:34991090|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36315513|PMID:36988593|PMID:9536098|PMID:9836640 12059651 CHEK2 checkpoint kinase 2 gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hematochezia PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15492928|PMID:15520402|PMID:16257342|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687 12059651 CHEK2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:7240710 20230517 OMIM 12059651 CHEK2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Familial colorectal cancer PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:12805407|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:24033266|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29785153|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31784482|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:33670479|PMID:33986034 12059651 CHEK2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:24033266|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29785153|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30976395|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31784482|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:33670479|PMID:33986034 12059651 CHEK2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23946381|PMID:24033266|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29785153|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31784482|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32830346|PMID:33471991|PMID:33670479|PMID:33986034 12059651 CHEK2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23946381|PMID:24033266|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29785153|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31784482|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32830346|PMID:33471991|PMID:33670479|PMID:33986034|PMID:35264596 12059651 CHEK2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23946381|PMID:24033266|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29785153|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31784482|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32830346|PMID:33471991|PMID:33670479|PMID:33986034|PMID:35264596 12059651 CHEK2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24506336|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28709830|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29439820|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29625052|PMID:29659569|PMID:29785153|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:31036035|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31447099|PMID:31614935|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33077847|PMID:33158149|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33986034|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35264596|PMID:36136322 12059651 CHEK2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24506336|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28709830|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29439820|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29625052|PMID:29659569|PMID:29785007|PMID:29785153|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:31036035|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31447099|PMID:31614935|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33077847|PMID:33158149|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33986034|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35264596|PMID:36136322 12059651 CHEK2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24506336|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28709830|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29439820|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29625052|PMID:29659569|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:31036035|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31447099|PMID:31614935|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33077847|PMID:33158149|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33986034|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35264596|PMID:36136322 12059651 CHEK2 checkpoint kinase 2 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732861 D RGD:9068941 20230518 RGD DNA:loss of heterozygosity PMID:17145815|REF_RGD_ID:2289706 12059651 CHEK2 checkpoint kinase 2 gene DOID:9460 uterine corpus cancer ISO RGD:732861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:21876083|PMID:24713400|PMID:28492532 12059695 LOC487015 myelin P2 protein gene DOID:0111560 Charcot-Marie-Tooth disease type 1G ISO RGD:1316684 D RGD:7240710 20191002 OMIM 12059695 LOC487015 myelin P2 protein gene DOID:0111560 Charcot-Marie-Tooth disease type 1G ISO RGD:1316684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1G PMID:23806086|PMID:24088041|PMID:25741868|PMID:26257172|PMID:26828946|PMID:27009151|PMID:28492532|PMID:28747762|PMID:30249361|PMID:30941082|PMID:31412900|PMID:32277537 12059695 LOC487015 myelin P2 protein gene DOID:574 peripheral nervous system disease ISO RGD:1316684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:23806086|PMID:24088041|PMID:26257172|PMID:26828946|PMID:28492532|PMID:28747762 12059695 LOC487015 myelin P2 protein gene DOID:630 genetic disease ISO RGD:1316684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26257172|PMID:26828946|PMID:27009151|PMID:28492532|PMID:28747762|PMID:30249361|PMID:30941082|PMID:31412900|PMID:32277537 12059695 LOC487015 myelin P2 protein gene DOID:870 neuropathy ISO RGD:1316684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:23806086|PMID:24088041|PMID:26257172|PMID:26828946|PMID:28492532|PMID:28747762 12059703 NPTN neuroplastin gene DOID:10763 hypertension ISO RGD:733531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 12059703 NPTN neuroplastin gene DOID:1935 Bardet-Biedl syndrome ISO RGD:733531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12059703 NPTN neuroplastin gene DOID:2717 Bloom syndrome ISO RGD:733531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12059703 NPTN neuroplastin gene DOID:3320 Tay-Sachs disease ISO RGD:733531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 12059703 NPTN neuroplastin gene DOID:5419 schizophrenia ISO RGD:733531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12059703 NPTN neuroplastin gene DOID:630 genetic disease ISO RGD:733531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059703 NPTN neuroplastin gene DOID:9007102 Myocardial Ischemia ISO RGD:733531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12059703 NPTN neuroplastin gene DOID:9008582 Developmental Disease ISO RGD:733531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12059703 NPTN neuroplastin gene DOID:9256 colorectal cancer ISO RGD:733531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12059715 POLR1H RNA polymerase I subunit H gene DOID:11372 megacolon ISO RGD:1351679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12059715 POLR1H RNA polymerase I subunit H gene DOID:9000217 Stomach Neoplasms ISO RGD:1351679 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16609701 12059715 POLR1H RNA polymerase I subunit H gene DOID:9002170 Experimental Neoplasms ISO RGD:1351679 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16609701 12059733 ERO1B endoplasmic reticulum oxidoreductase 1 beta gene DOID:1540 parathyroid carcinoma ISO RGD:1344502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12059733 ERO1B endoplasmic reticulum oxidoreductase 1 beta gene DOID:630 genetic disease ISO RGD:1344502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059733 ERO1B endoplasmic reticulum oxidoreductase 1 beta gene DOID:83 cataract ISO RGD:1344502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:33867527 12059733 ERO1B endoplasmic reticulum oxidoreductase 1 beta gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12059754 FOXK1 forkhead box K1 gene DOID:11372 megacolon ISO RGD:1604502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12059754 FOXK1 forkhead box K1 gene DOID:630 genetic disease ISO RGD:1604502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059767 PRSS33 serine protease 33 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1323608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12059767 PRSS33 serine protease 33 gene DOID:1826 epilepsy ISO RGD:1323608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12059767 PRSS33 serine protease 33 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1323608 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12059767 PRSS33 serine protease 33 gene DOID:630 genetic disease ISO RGD:1323608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059781 LOC607286 speedy protein E4-like gene DOID:630 genetic disease ISO RGD:2303837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059782 ZMAT4 zinc finger matrin-type 4 gene DOID:630 genetic disease ISO RGD:1606216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059801 CTSK cathepsin K gene DOID:0080006 bone development disease ISO RGD:734172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:24767306|PMID:28492532|PMID:31944631 12059801 CTSK cathepsin K gene DOID:0080038 pycnodysostosis ISO RGD:734172 D RGD:7240710 20180130 OMIM 12059801 CTSK cathepsin K gene DOID:0080038 pycnodysostosis ISO RGD:734172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyknodysostosis PMID:10074491|PMID:10491211|PMID:10571690|PMID:10634420|PMID:10878663|PMID:11181082|PMID:12125807|PMID:12874701|PMID:15070910|PMID:16199547|PMID:17206399|PMID:17397052|PMID:19674475|PMID:20044043|PMID:20814951|PMID:21099701|PMID:21217630|PMID:21569238|PMID:22822386|PMID:23506830|PMID:23786531|PMID:24057333|PMID:24269275|PMID:24767306|PMID:25725806|PMID:25741868|PMID:26892377|PMID:27092432|PMID:27558267|PMID:28492532|PMID:29441215|PMID:29620724|PMID:29796728|PMID:30199612|PMID:31237352|PMID:33963797|PMID:7663522|PMID:8703060|PMID:8938428|PMID:9529353 12059801 CTSK cathepsin K gene DOID:0111940 immunodeficiency 42 ISO RGD:734172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12059801 CTSK cathepsin K gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:734172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12059801 CTSK cathepsin K gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:734172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12059801 CTSK cathepsin K gene DOID:10754 otitis media ISO RGD:61810 D RGD:9068941 20200609 RGD mRNA:decreased expression:middle ear PMID:15179208|REF_RGD_ID:1342442 12059801 CTSK cathepsin K gene DOID:10941 intracranial aneurysm ISO RGD:61810 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, artery PMID:18635848|REF_RGD_ID:2306495 12059801 CTSK cathepsin K gene DOID:10941 intracranial aneurysm ISO RGD:734172 D RGD:9068941 20200609 RGD protein:increased expression:brain, artery PMID:18635848|REF_RGD_ID:2306495 12059801 CTSK cathepsin K gene DOID:11476 osteoporosis ISO RGD:62102 D RGD:9068941 20200609 RGD PMID:10469835|REF_RGD_ID:734856 12059801 CTSK cathepsin K gene DOID:13533 osteopetrosis ISO RGD:62102 D RGD:9068941 20200609 RGD PMID:10469835|REF_RGD_ID:734856 12059801 CTSK cathepsin K gene DOID:1540 parathyroid carcinoma ISO RGD:734172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12059801 CTSK cathepsin K gene DOID:3068 glioblastoma ISO RGD:734172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25356585 12059801 CTSK cathepsin K gene DOID:5812 MHC class II deficiency ISO RGD:734172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12059801 CTSK cathepsin K gene DOID:630 genetic disease ISO RGD:734172 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10074491|PMID:17397052|PMID:20044043|PMID:20814951|PMID:25741868|PMID:27558267|PMID:28492532|PMID:29796728|PMID:8703060|PMID:9529353 12059801 CTSK cathepsin K gene DOID:8398 osteoarthritis ISO RGD:734172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 12059801 CTSK cathepsin K gene DOID:9002457 Experimental Arthritis ISO RGD:61810 D RGD:9068941 20200609 RGD mRNA:increased expression:synovium, bone marrow PMID:15353610|REF_RGD_ID:1601025 12059801 CTSK cathepsin K gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12059817 DSCC1 DNA replication and sister chromatid cohesion 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1604296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12059817 DSCC1 DNA replication and sister chromatid cohesion 1 gene DOID:630 genetic disease ISO RGD:1604296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059838 HSF2BP heat shock transcription factor 2 binding protein gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1349418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 12059838 HSF2BP heat shock transcription factor 2 binding protein gene DOID:0110266 cataract 9 multiple types ISO RGD:1349418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12059838 HSF2BP heat shock transcription factor 2 binding protein gene DOID:0112278 primary ovarian insufficiency 19 ISO RGD:1349418 D RGD:7240710 20210414 OMIM 12059838 HSF2BP heat shock transcription factor 2 binding protein gene DOID:0112278 primary ovarian insufficiency 19 ISO RGD:1349418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 19 PMID:25741868|PMID:32845237 12059838 HSF2BP heat shock transcription factor 2 binding protein gene DOID:12849 autistic disorder ISO RGD:1349418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12059838 HSF2BP heat shock transcription factor 2 binding protein gene DOID:630 genetic disease ISO RGD:1349418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059838 HSF2BP heat shock transcription factor 2 binding protein gene DOID:891 progressive myoclonus epilepsy ISO RGD:1349418 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12059838 HSF2BP heat shock transcription factor 2 binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12059838 HSF2BP heat shock transcription factor 2 binding protein gene DOID:9263 homocystinuria ISO RGD:1349418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12059838 HSF2BP heat shock transcription factor 2 binding protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:1349418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12059853 AQP10 aquaporin 10 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1344809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12059853 AQP10 aquaporin 10 gene DOID:0111940 immunodeficiency 42 ISO RGD:1344809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12059853 AQP10 aquaporin 10 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12059853 AQP10 aquaporin 10 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 12059853 AQP10 aquaporin 10 gene DOID:1540 parathyroid carcinoma ISO RGD:1344809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12059853 AQP10 aquaporin 10 gene DOID:5812 MHC class II deficiency ISO RGD:1344809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12059853 AQP10 aquaporin 10 gene DOID:630 genetic disease ISO RGD:1344809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059853 AQP10 aquaporin 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12059865 PPP1R17 protein phosphatase 1 regulatory subunit 17 gene DOID:13810 familial hypercholesterolemia ISO RGD:1344493 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 12059865 PPP1R17 protein phosphatase 1 regulatory subunit 17 gene DOID:13810 familial hypercholesterolemia susceptibility ISO RGD:1344493 D RGD:7240710 20230505 OMIM 12059865 PPP1R17 protein phosphatase 1 regulatory subunit 17 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12059865 PPP1R17 protein phosphatase 1 regulatory subunit 17 gene DOID:630 genetic disease ISO RGD:1344493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059865 PPP1R17 protein phosphatase 1 regulatory subunit 17 gene DOID:9000808 Hypercholesterolemia ISO RGD:1344493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to PMID:12955585 12059879 KCNJ9 potassium inwardly rectifying channel subfamily J member 9 gene DOID:0060178 familial hemiplegic migraine ISO RGD:1343442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 12059879 KCNJ9 potassium inwardly rectifying channel subfamily J member 9 gene DOID:0060484 EAST syndrome ISO RGD:1343442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EAST syndrome PMID:28492532 12059879 KCNJ9 potassium inwardly rectifying channel subfamily J member 9 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1343442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12059879 KCNJ9 potassium inwardly rectifying channel subfamily J member 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1343442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12059879 KCNJ9 potassium inwardly rectifying channel subfamily J member 9 gene DOID:630 genetic disease ISO RGD:1343442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059879 KCNJ9 potassium inwardly rectifying channel subfamily J member 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12059887 MIR542 microRNA mir-542 gene DOID:12849 autistic disorder ISO RGD:1606043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12059887 MIR542 microRNA mir-542 gene DOID:7305 astroblastoma disease_progression ISO RGD:1606043 D RGD:9068941 20210730 RGD PMID:26286747|REF_RGD_ID:13782052 12059887 MIR542 microRNA mir-542 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1606043 D RGD:9068941 20210730 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12059887 MIR542 microRNA mir-542 gene DOID:9452 fatty liver disease ISO RGD:1606043 D RGD:9068941 20210730 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12059960 LOC102156856 melanoma-associated antigen 10-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12059960 LOC102156856 melanoma-associated antigen 10-like gene DOID:12849 autistic disorder ISO RGD:1345818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12059960 LOC102156856 melanoma-associated antigen 10-like gene DOID:630 genetic disease ISO RGD:1345818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059967 ZNF473 zinc finger protein 473 gene DOID:3007 breast ductal carcinoma ISO RGD:1352232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12059967 ZNF473 zinc finger protein 473 gene DOID:630 genetic disease ISO RGD:1352232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12059998 TMEM262 transmembrane protein 262 gene DOID:630 genetic disease ISO RGD:7409565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060005 CCDC60 coiled-coil domain containing 60 gene DOID:630 genetic disease ISO RGD:1602176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060047 HMGB1 high mobility group box 1 gene DOID:10652 Alzheimer's disease ISO RGD:10711 D RGD:9068941 20200609 RGD PMID:23905994|REF_RGD_ID:10402058 12060047 HMGB1 high mobility group box 1 gene DOID:10763 hypertension ISO RGD:1605729 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32147540 12060047 HMGB1 high mobility group box 1 gene DOID:10825 essential hypertension ISO RGD:1605729 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 12060047 HMGB1 high mobility group box 1 gene DOID:10908 hydrocephalus ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:22116431|REF_RGD_ID:10402405 12060047 HMGB1 high mobility group box 1 gene DOID:11446 sciatic neuropathy treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:23991202|REF_RGD_ID:10402062 12060047 HMGB1 high mobility group box 1 gene DOID:12986 leukostasis ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28294475 12060047 HMGB1 high mobility group box 1 gene DOID:13378 Kawasaki disease ISO RGD:1605729 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18720262|REF_RGD_ID:8695977 12060047 HMGB1 high mobility group box 1 gene DOID:13603 obstructive jaundice ISO RGD:2802 D RGD:9068941 20210122 RGD protein:increased expression:liver, plasma PMID:21737101|REF_RGD_ID:10402168 12060047 HMGB1 high mobility group box 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 12060047 HMGB1 high mobility group box 1 gene DOID:1936 atherosclerosis treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:20519084|REF_RGD_ID:10402182 12060047 HMGB1 high mobility group box 1 gene DOID:224 transient cerebral ischemia ISO RGD:10711 D RGD:9068941 20200609 RGD protein:increased expression:brain, plasma PMID:23288172|REF_RGD_ID:8696004 12060047 HMGB1 high mobility group box 1 gene DOID:234 colon adenocarcinoma ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:20616616|REF_RGD_ID:10402080 12060047 HMGB1 high mobility group box 1 gene DOID:3070 high grade glioma treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:10830965|REF_RGD_ID:10402059 12060047 HMGB1 high mobility group box 1 gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:1605729 D RGD:9068941 20200609 RGD PMID:23639787|REF_RGD_ID:10402056 12060047 HMGB1 high mobility group box 1 gene DOID:3454 brain infarction ISO RGD:2802 D RGD:9068941 20230216 RGD PMID:19944723|REF_RGD_ID:2316741 12060047 HMGB1 high mobility group box 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:23480850|REF_RGD_ID:9681449 12060047 HMGB1 high mobility group box 1 gene DOID:3526 cerebral infarction ISO RGD:1605729 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23288172|REF_RGD_ID:8696004 12060047 HMGB1 high mobility group box 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12060047 HMGB1 high mobility group box 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27616297 12060047 HMGB1 high mobility group box 1 gene DOID:418 systemic scleroderma ISO RGD:10711 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18825489|REF_RGD_ID:8695973 12060047 HMGB1 high mobility group box 1 gene DOID:418 systemic scleroderma ISO RGD:1605729 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18825489|REF_RGD_ID:8695973 12060047 HMGB1 high mobility group box 1 gene DOID:5844 myocardial infarction ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21113057 12060047 HMGB1 high mobility group box 1 gene DOID:5844 myocardial infarction treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:23188125|REF_RGD_ID:10402174 12060047 HMGB1 high mobility group box 1 gene DOID:6000 congestive heart failure ISO RGD:1605729 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:23708738|REF_RGD_ID:10402070 12060047 HMGB1 high mobility group box 1 gene DOID:6000 congestive heart failure treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:24204700|REF_RGD_ID:10402081 12060047 HMGB1 high mobility group box 1 gene DOID:630 genetic disease ISO RGD:1605729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060047 HMGB1 high mobility group box 1 gene DOID:6432 pulmonary hypertension treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:25032709|REF_RGD_ID:10402082 12060047 HMGB1 high mobility group box 1 gene DOID:824 periodontitis ISO RGD:2802 D RGD:9068941 20200609 RGD protein:increased expression:gingiva PMID:24692854|REF_RGD_ID:10402172 12060047 HMGB1 high mobility group box 1 gene DOID:8398 osteoarthritis ISO RGD:10711 D RGD:9068941 20200609 RGD PMID:22330250|REF_RGD_ID:10401949 12060047 HMGB1 high mobility group box 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2802 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:20195207|REF_RGD_ID:2325645 12060047 HMGB1 high mobility group box 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:2802 D RGD:9068941 20200609 RGD associated with Adenocarcinoma, Colon PMID:20616616|REF_RGD_ID:10402080 12060047 HMGB1 high mobility group box 1 gene DOID:9000099 Experimental Colitis treatment ISO RGD:2802 D RGD:9068941 20220623 RGD PMID:29572553|REF_RGD_ID:152995414 12060047 HMGB1 high mobility group box 1 gene DOID:9000238 Acute-On-Chronic Liver Failure treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:23591781|REF_RGD_ID:10402084 12060047 HMGB1 high mobility group box 1 gene DOID:9000945 Ventilator-Induced Lung Injury treatment ISO RGD:2802 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:24058610|REF_RGD_ID:10402091 12060047 HMGB1 high mobility group box 1 gene DOID:9000972 Fever ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19265175 12060047 HMGB1 high mobility group box 1 gene DOID:9000998 Brain Injuries treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:22915134|REF_RGD_ID:7245513 12060047 HMGB1 high mobility group box 1 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:21999229|REF_RGD_ID:10402064 12060047 HMGB1 high mobility group box 1 gene DOID:9002153 Chronic Allograft Dysfunction treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:22217518|REF_RGD_ID:7245568 12060047 HMGB1 high mobility group box 1 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2802 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, altered localization:serum, hepatocyte, cytoplasm PMID:21431875|REF_RGD_ID:10402078 12060047 HMGB1 high mobility group box 1 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2802 D RGD:9068941 20200609 RGD protein:increased oxidation:liver PMID:22514737|REF_RGD_ID:10402175 12060047 HMGB1 high mobility group box 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:24578610|REF_RGD_ID:10402068 12060047 HMGB1 high mobility group box 1 gene DOID:9002211 Hyperalgesia ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27474498 12060047 HMGB1 high mobility group box 1 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:24077211|PMID:30142543|REF_RGD_ID:13838658|REF_RGD_ID:7364865 12060047 HMGB1 high mobility group box 1 gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:2802 D RGD:9068941 20200609 RGD protein:increased expression:heart, serum PMID:24599045|REF_RGD_ID:8696002 12060047 HMGB1 high mobility group box 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1605729 D RGD:9068941 20200609 RGD mRNA:decreased expression:articular cartilage PMID:19139395|REF_RGD_ID:10402184 12060047 HMGB1 high mobility group box 1 gene DOID:9002331 Knee Osteoarthritis severity ISO RGD:1605729 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid PMID:21968272|REF_RGD_ID:10402061 12060047 HMGB1 high mobility group box 1 gene DOID:9002457 Experimental Arthritis ISO RGD:2802 D RGD:9068941 20200609 RGD protein:altered localization:cytoplasm, extracellular matrix PMID:12384917|REF_RGD_ID:728698 12060047 HMGB1 high mobility group box 1 gene DOID:9002644 Premature Aging ISO RGD:10711 D RGD:9068941 20200609 RGD protein:increased expression:adipose tissue PMID:21828285|REF_RGD_ID:10043099 12060047 HMGB1 high mobility group box 1 gene DOID:9002906 Multiple Organ Failure ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19265175 12060047 HMGB1 high mobility group box 1 gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:10711 D RGD:9068941 20200609 RGD PMID:24371837|REF_RGD_ID:10402057 12060047 HMGB1 high mobility group box 1 gene DOID:9003199 Systemic Vasculitis ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23146691 12060047 HMGB1 high mobility group box 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1605729 D RGD:9068941 20200609 RGD PMID:23708738|REF_RGD_ID:10402070 12060047 HMGB1 high mobility group box 1 gene DOID:9004009 Reperfusion Injury treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:22392147|REF_RGD_ID:10402071 12060047 HMGB1 high mobility group box 1 gene DOID:9004484 Sepsis ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19265175|PMID:23146691 12060047 HMGB1 high mobility group box 1 gene DOID:9004484 Sepsis treatment ISO RGD:10711 D RGD:9068941 20200609 RGD PMID:20936717|REF_RGD_ID:10402173 12060047 HMGB1 high mobility group box 1 gene DOID:9004484 Sepsis treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:19623040|REF_RGD_ID:10402067 12060047 HMGB1 high mobility group box 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2802 D RGD:9068941 20200609 RGD associated with Burns PMID:23874764|REF_RGD_ID:10402098 12060047 HMGB1 high mobility group box 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2802 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:19766246|REF_RGD_ID:4892587 12060047 HMGB1 high mobility group box 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2802 D RGD:9068941 20200709 RGD associated with Crush Injuries PMID:30465396|REF_RGD_ID:34901874 12060047 HMGB1 high mobility group box 1 gene DOID:9004649 Heat Stroke treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:20047080|REF_RGD_ID:10402179 12060047 HMGB1 high mobility group box 1 gene DOID:9004974 Painful Neuropathy ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27474498 12060047 HMGB1 high mobility group box 1 gene DOID:9005372 Inflammation ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21617575|PMID:22178603|PMID:22386814|PMID:22429818|PMID:23146691 12060047 HMGB1 high mobility group box 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2802 D RGD:9068941 20200609 RGD associated with Endotoxemia;protein:increased expression:serum PMID:19959191|REF_RGD_ID:2316737 12060047 HMGB1 high mobility group box 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2802 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:retina, cytoplasm PMID:23261684|REF_RGD_ID:10402069 12060047 HMGB1 high mobility group box 1 gene DOID:9005749 Necrosis ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19783637|PMID:22178603 12060047 HMGB1 high mobility group box 1 gene DOID:9005930 Endotoxemia ISO RGD:2802 D RGD:9068941 20200609 RGD protein:increased expression:heart, serum PMID:18503231|REF_RGD_ID:10402065 12060047 HMGB1 high mobility group box 1 gene DOID:9005968 Neuralgia ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25014009 12060047 HMGB1 high mobility group box 1 gene DOID:9006444 Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia ISO RGD:1605729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia PMID:20661588 12060047 HMGB1 high mobility group box 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27474498 12060047 HMGB1 high mobility group box 1 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:2802 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:22115333|REF_RGD_ID:10402095 12060047 HMGB1 high mobility group box 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12060047 HMGB1 high mobility group box 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19783637 12060047 HMGB1 high mobility group box 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:10711 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 12060047 HMGB1 high mobility group box 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 12060047 HMGB1 high mobility group box 1 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:23706497|REF_RGD_ID:10402063 12060047 HMGB1 high mobility group box 1 gene DOID:9007730 Burns treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:20723408|REF_RGD_ID:10402183 12060047 HMGB1 high mobility group box 1 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:22093738|REF_RGD_ID:10402181 12060047 HMGB1 high mobility group box 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21113057 12060047 HMGB1 high mobility group box 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:19540007|PMID:23531454|REF_RGD_ID:10402066|REF_RGD_ID:10402170 12060061 HGF hepatocyte growth factor gene DOID:0050625 biliary tract benign neoplasm ISO RGD:70837 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:12819026|REF_RGD_ID:2317903 12060061 HGF hepatocyte growth factor gene DOID:0050700 cardiomyopathy ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16109756|PMID:18083897 12060061 HGF hepatocyte growth factor gene DOID:0050834 CHARGE syndrome ISO RGD:70837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 12060061 HGF hepatocyte growth factor gene DOID:0050852 limb ischemia treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:15238569|REF_RGD_ID:8548639 12060061 HGF hepatocyte growth factor gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:tongue: PMID:20848408|REF_RGD_ID:8548612 12060061 HGF hepatocyte growth factor gene DOID:0060041 autism spectrum disorder ISO RGD:70837 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12060061 HGF hepatocyte growth factor gene DOID:0060224 atrial fibrillation ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:15008956|REF_RGD_ID:8548608 12060061 HGF hepatocyte growth factor gene DOID:0060903 thrombosis ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15367830 12060061 HGF hepatocyte growth factor gene DOID:0080600 COVID-19 ISO RGD:70837 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12060061 HGF hepatocyte growth factor gene DOID:0080600 COVID-19 severity ISO RGD:70837 D RGD:9068941 20200618 RGD protein:increased expression:plasma (human) PMID:32360286|REF_RGD_ID:30309209 12060061 HGF hepatocyte growth factor gene DOID:0080745 polymyositis disease_progression ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:8952317|REF_RGD_ID:8548628 12060061 HGF hepatocyte growth factor gene DOID:0081267 graft-versus-host disease treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:11390418|REF_RGD_ID:8548544 12060061 HGF hepatocyte growth factor gene DOID:0110497 autosomal recessive nonsyndromic deafness 39 ISO RGD:70837 D RGD:7240710 20180130 OMIM 12060061 HGF hepatocyte growth factor gene DOID:0110497 autosomal recessive nonsyndromic deafness 39 ISO RGD:70837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 39 PMID:18564920|PMID:19576567|PMID:24033266|PMID:25741868|PMID:28492532 12060061 HGF hepatocyte growth factor gene DOID:10126 keratoconus ISO RGD:70837 D RGD:9068941 20200609 RGD DNA:SNP: : rs2286194(human) PMID:24416191|REF_RGD_ID:8548553 12060061 HGF hepatocyte growth factor gene DOID:10223 dermatomyositis disease_progression ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:8952317|REF_RGD_ID:8548628 12060061 HGF hepatocyte growth factor gene DOID:10584 retinitis pigmentosa ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor: PMID:20053975|REF_RGD_ID:8548602 12060061 HGF hepatocyte growth factor gene DOID:10763 hypertension susceptibility ISO RGD:70837 D RGD:9068941 20200609 RGD DNA:polymorphism:intron13:C/A PMID:15127882|REF_RGD_ID:1642064 12060061 HGF hepatocyte growth factor gene DOID:11446 sciatic neuropathy treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:18941443|REF_RGD_ID:8548631 12060061 HGF hepatocyte growth factor gene DOID:11830 myopia ISO RGD:70837 D RGD:9068941 20200609 RGD Han Chinese population PMID:16723436|REF_RGD_ID:1642706 12060061 HGF hepatocyte growth factor gene DOID:11830 myopia no_association ISO RGD:70837 D RGD:9068941 20200609 RGD DNA:SNP: : rs3735520(human) PMID:19060265|REF_RGD_ID:8548600 12060061 HGF hepatocyte growth factor gene DOID:11830 myopia susceptibility ISO RGD:70837 D RGD:9068941 20200609 RGD DNA:SNPs,haplotypes:multiple: PMID:19471602|REF_RGD_ID:8548542 12060061 HGF hepatocyte growth factor gene DOID:12306 vitiligo treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:16117796|REF_RGD_ID:8548598 12060061 HGF hepatocyte growth factor gene DOID:13025 retinopathy of prematurity ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:10751359|REF_RGD_ID:8548546 12060061 HGF hepatocyte growth factor gene DOID:13550 angle-closure glaucoma susceptibility ISO RGD:70837 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype::rs5745718,rs1742817(human) PMID:23585864|REF_RGD_ID:8548548 12060061 HGF hepatocyte growth factor gene DOID:14256 adult-onset Still's disease ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24387171|REF_RGD_ID:8548659 12060061 HGF hepatocyte growth factor gene DOID:14330 Parkinson's disease ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16791285 12060061 HGF hepatocyte growth factor gene DOID:1612 breast cancer ISO RGD:10708 D RGD:9068941 20220825 MouseDO OMIM:114480 12060061 HGF hepatocyte growth factor gene DOID:1749 squamous cell carcinoma ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21273587 12060061 HGF hepatocyte growth factor gene DOID:178 vascular disease ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15071489 12060061 HGF hepatocyte growth factor gene DOID:1790 malignant mesothelioma ISO RGD:70837 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 12060061 HGF hepatocyte growth factor gene DOID:1793 pancreatic cancer ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20017454|REF_RGD_ID:2317895 12060061 HGF hepatocyte growth factor gene DOID:1826 epilepsy ISO RGD:70837 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 12060061 HGF hepatocyte growth factor gene DOID:2349 arteriosclerosis severity ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:9350587|REF_RGD_ID:8548601 12060061 HGF hepatocyte growth factor gene DOID:2741 bilirubin metabolic disorder treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:9073133|REF_RGD_ID:8548604 12060061 HGF hepatocyte growth factor gene DOID:3069 malignant astrocytoma ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11223164 12060061 HGF hepatocyte growth factor gene DOID:3070 high grade glioma disease_progression ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:12115353|REF_RGD_ID:8548633 12060061 HGF hepatocyte growth factor gene DOID:3082 interstitial lung disease severity ISO RGD:70837 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;DNA:polymorphism:promoter:-1652C>T(human) PMID:21520010|REF_RGD_ID:8548623 12060061 HGF hepatocyte growth factor gene DOID:3179 inverted papilloma ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:inferior nasal concha: PMID:22730814|REF_RGD_ID:8548614 12060061 HGF hepatocyte growth factor gene DOID:331 central nervous system disease ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid: PMID:12100369|REF_RGD_ID:8548547 12060061 HGF hepatocyte growth factor gene DOID:3393 coronary artery disease ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:11669408|REF_RGD_ID:8548610 12060061 HGF hepatocyte growth factor gene DOID:3407 carotid artery disease ISO RGD:70837 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum PMID:16759302|REF_RGD_ID:2313566 12060061 HGF hepatocyte growth factor gene DOID:3454 brain infarction treatment ISO RGD:2794 D RGD:9068941 20200609 RGD PMID:16421510|REF_RGD_ID:8548626 12060061 HGF hepatocyte growth factor gene DOID:3565 meningioma disease_progression ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:12115353|REF_RGD_ID:8548633 12060061 HGF hepatocyte growth factor gene DOID:3770 pulmonary fibrosis ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16324872 12060061 HGF hepatocyte growth factor gene DOID:3770 pulmonary fibrosis ISO RGD:70837 D RGD:9068941 20200609 RGD associated with myositis;protein:increased expression:serum: PMID:8952317|REF_RGD_ID:8548628 12060061 HGF hepatocyte growth factor gene DOID:418 systemic scleroderma ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24387171|REF_RGD_ID:8548659 12060061 HGF hepatocyte growth factor gene DOID:418 systemic scleroderma severity ISO RGD:70837 D RGD:9068941 20200609 RGD mRNA:increased expression:skin: PMID:22286923|REF_RGD_ID:8548651 12060061 HGF hepatocyte growth factor gene DOID:418 systemic scleroderma treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:17049072|REF_RGD_ID:8548624 12060061 HGF hepatocyte growth factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:70837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12060061 HGF hepatocyte growth factor gene DOID:4947 cholangiocarcinoma ISO RGD:2794 D RGD:9068941 20200609 RGD mRNA, protein:increased expression: : PMID:10827151|REF_RGD_ID:2317925 12060061 HGF hepatocyte growth factor gene DOID:4947 cholangiocarcinoma ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16974053|REF_RGD_ID:2317909 12060061 HGF hepatocyte growth factor gene DOID:4989 pancreatitis ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14751415 12060061 HGF hepatocyte growth factor gene DOID:5082 liver cirrhosis ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17097021 12060061 HGF hepatocyte growth factor gene DOID:5419 schizophrenia ISO RGD:70837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12060061 HGF hepatocyte growth factor gene DOID:5844 myocardial infarction ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:12419930|REF_RGD_ID:8548609 12060061 HGF hepatocyte growth factor gene DOID:5844 myocardial infarction treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:16570015|REF_RGD_ID:8548632 12060061 HGF hepatocyte growth factor gene DOID:630 genetic disease ISO RGD:70837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 12060061 HGF hepatocyte growth factor gene DOID:633 myositis disease_progression ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:8952317|REF_RGD_ID:8548628 12060061 HGF hepatocyte growth factor gene DOID:684 hepatocellular carcinoma ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11896611|PMID:9932610 12060061 HGF hepatocyte growth factor gene DOID:7148 rheumatoid arthritis disease_progression ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24387171|REF_RGD_ID:8548659 12060061 HGF hepatocyte growth factor gene DOID:769 neuroblastoma ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16051641 12060061 HGF hepatocyte growth factor gene DOID:8466 retinal degeneration treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:15505072|REF_RGD_ID:8548603 12060061 HGF hepatocyte growth factor gene DOID:8472 localized scleroderma treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:14712301|REF_RGD_ID:8548627 12060061 HGF hepatocyte growth factor gene DOID:869 cholesteatoma ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:fibroblast: PMID:15267172|REF_RGD_ID:8547969 12060061 HGF hepatocyte growth factor gene DOID:8947 diabetic retinopathy ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:15525877|REF_RGD_ID:8548539 12060061 HGF hepatocyte growth factor gene DOID:8947 diabetic retinopathy disease_progression ISO RGD:70837 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum PMID:18335393|REF_RGD_ID:2313565 12060061 HGF hepatocyte growth factor gene DOID:9000011 Gallbladder Neoplasms ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:15118756|REF_RGD_ID:2317899 12060061 HGF hepatocyte growth factor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2794 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord: PMID:17549731|REF_RGD_ID:2317487 12060061 HGF hepatocyte growth factor gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2794 D RGD:9068941 20200609 RGD PMID:17549731|REF_RGD_ID:2317487 12060061 HGF hepatocyte growth factor gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:22140459|REF_RGD_ID:8548666 12060061 HGF hepatocyte growth factor gene DOID:9000319 Lentigo ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:20662835|REF_RGD_ID:8548653 12060061 HGF hepatocyte growth factor gene DOID:9000386 Polyomavirus Infections ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 12060061 HGF hepatocyte growth factor gene DOID:9000641 Pain ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26000320 12060061 HGF hepatocyte growth factor gene DOID:9000656 Penetrating Wounds ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12890377 12060061 HGF hepatocyte growth factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:10708 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental; PMID:16459153|REF_RGD_ID:8548625 12060061 HGF hepatocyte growth factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25971889 12060061 HGF hepatocyte growth factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:70837 D RGD:9068941 20200609 RGD associated with Melanoma; PMID:10688652|REF_RGD_ID:8548538 12060061 HGF hepatocyte growth factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:70837 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:11893931|REF_RGD_ID:2317904 12060061 HGF hepatocyte growth factor gene DOID:9001044 Choroidal Neovascularization ISO RGD:2794 D RGD:9068941 20200609 RGD protein:increased expression:choroidal tissue: PMID:19013152|REF_RGD_ID:8548599 12060061 HGF hepatocyte growth factor gene DOID:9001472 Nasal Polyps ISO RGD:70837 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:nasal cavity mucosa: PMID:16982975|REF_RGD_ID:8548613 12060061 HGF hepatocyte growth factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10677585|PMID:12918455|PMID:15793283|PMID:16465399|PMID:16627068|PMID:17714472|PMID:18637143 12060061 HGF hepatocyte growth factor gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11896611 12060061 HGF hepatocyte growth factor gene DOID:9001600 Wounds and Injuries treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:16572191|REF_RGD_ID:8548635 12060061 HGF hepatocyte growth factor gene DOID:9001725 Retina Reperfusion Injury ISO RGD:2794 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:retina: PMID:11818401|REF_RGD_ID:8548551 12060061 HGF hepatocyte growth factor gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:11818401|REF_RGD_ID:8548551 12060061 HGF hepatocyte growth factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:16340242|REF_RGD_ID:2313567 12060061 HGF hepatocyte growth factor gene DOID:9002170 Experimental Neoplasms ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21273587 12060061 HGF hepatocyte growth factor gene DOID:9004001 Facial Nerve Injuries treatment ISO RGD:2794 D RGD:9068941 20200609 RGD PMID:21562589|REF_RGD_ID:8548634 12060061 HGF hepatocyte growth factor gene DOID:9004009 Reperfusion Injury ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 12060061 HGF hepatocyte growth factor gene DOID:9004118 Experimental Melanoma ISO RGD:10708 D RGD:9068941 20200609 RGD PMID:9823327|REF_RGD_ID:8548620 12060061 HGF hepatocyte growth factor gene DOID:9004217 Nerve Sheath Neoplasms ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:9308731|REF_RGD_ID:2317564 12060061 HGF hepatocyte growth factor gene DOID:9004464 Skin Neoplasms susceptibility ISO RGD:10708 D RGD:9068941 20200609 RGD PMID:10919643|REF_RGD_ID:8548621 12060061 HGF hepatocyte growth factor gene DOID:9004538 Hearing Loss ISO RGD:70837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386 12060061 HGF hepatocyte growth factor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15654357|PMID:9932610 12060061 HGF hepatocyte growth factor gene DOID:9004590 Acute Liver Failure ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12479984 12060061 HGF hepatocyte growth factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2794 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:16297324|REF_RGD_ID:2313568 12060061 HGF hepatocyte growth factor gene DOID:9005941 Rhinosinusitis susceptibility ISO RGD:70837 D RGD:9068941 20200609 RGD DNA:haplotype::rs38850,rs38855,rs38857(human) PMID:20416453|REF_RGD_ID:8548615 12060061 HGF hepatocyte growth factor gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 12060061 HGF hepatocyte growth factor gene DOID:9006646 Metabolic Syndrome ISO RGD:70837 D RGD:9068941 20200609 RGD study in the Japanese population PMID:15713721|REF_RGD_ID:1642702 12060061 HGF hepatocyte growth factor gene DOID:9007096 Stroke treatment ISO RGD:2794 D RGD:9068941 20200609 RGD PMID:16421510|REF_RGD_ID:8548626 12060061 HGF hepatocyte growth factor gene DOID:9007102 Myocardial Ischemia ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12447174 12060061 HGF hepatocyte growth factor gene DOID:9007188 Liver Neoplasms ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8807143 12060061 HGF hepatocyte growth factor gene DOID:9007748 Retinal Neovascularization ISO RGD:10708 D RGD:9068941 20200609 RGD mRNA:increased expression:retina: PMID:17389513|REF_RGD_ID:8548541 12060061 HGF hepatocyte growth factor gene DOID:9008091 Optic Nerve Injuries treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:21443522|REF_RGD_ID:8548549 12060061 HGF hepatocyte growth factor gene DOID:9008510 Chronic Hepatitis ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 12060061 HGF hepatocyte growth factor gene DOID:9008691 Liver Injury treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:16246197|REF_RGD_ID:8548597 12060061 HGF hepatocyte growth factor gene DOID:9119 acute myeloid leukemia ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683780 12060061 HGF hepatocyte growth factor gene DOID:9206 Barrett's esophagus ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15387324 12060061 HGF hepatocyte growth factor gene DOID:9351 diabetes mellitus ISO RGD:70837 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cornea PMID:16186340|REF_RGD_ID:2313569 12060061 HGF hepatocyte growth factor gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor: PMID:10967068|REF_RGD_ID:8548540 12060061 HGF hepatocyte growth factor gene DOID:9743 diabetic neuropathy ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26000320 12060061 HGF hepatocyte growth factor gene DOID:9743 diabetic neuropathy ISO RGD:70837 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:15734864|REF_RGD_ID:2313570 12060061 HGF hepatocyte growth factor gene DOID:9970 obesity ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12706940|REF_RGD_ID:1642704 12060092 NUP50 nucleoporin 50 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:736309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12060092 NUP50 nucleoporin 50 gene DOID:1059 intellectual disability ISO RGD:736309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12060092 NUP50 nucleoporin 50 gene DOID:630 genetic disease ISO RGD:736309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060104 HIPK3 homeodomain interacting protein kinase 3 gene DOID:1059 intellectual disability ISO RGD:731500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12060104 HIPK3 homeodomain interacting protein kinase 3 gene DOID:630 genetic disease ISO RGD:731500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060131 PERP p53 apoptosis effector related to PMP22 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1321113 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12060131 PERP p53 apoptosis effector related to PMP22 gene DOID:630 genetic disease ISO RGD:1321113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060131 PERP p53 apoptosis effector related to PMP22 gene DOID:9000198 Erythrokeratodermia Variabilis et Progressiva 7 ISO RGD:1321113 D RGD:7240710 20210303 OMIM 12060131 PERP p53 apoptosis effector related to PMP22 gene DOID:9000198 Erythrokeratodermia Variabilis et Progressiva 7 ISO RGD:1321113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 7 PMID:30321533|PMID:31898316 12060131 PERP p53 apoptosis effector related to PMP22 gene DOID:9008575 Olmsted Syndrome 2 ISO RGD:1321113 D RGD:7240710 20210303 OMIM 12060131 PERP p53 apoptosis effector related to PMP22 gene DOID:9008575 Olmsted Syndrome 2 ISO RGD:1321113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Olmsted syndrome 2 PMID:30321533|PMID:31361044 12060138 TMEM160 transmembrane protein 160 gene DOID:630 genetic disease ISO RGD:1606276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060145 NPM3 nucleophosmin/nucleoplasmin 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1349032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12060145 NPM3 nucleophosmin/nucleoplasmin 3 gene DOID:630 genetic disease ISO RGD:1349032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060145 NPM3 nucleophosmin/nucleoplasmin 3 gene DOID:9006205 Animal Disease Models ISO RGD:1349032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12060155 HEATR3 HEAT repeat containing 3 gene DOID:0111122 nephronophthisis 14 ISO RGD:1602884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 12060155 HEATR3 HEAT repeat containing 3 gene DOID:0111895 Diamond-Blackfan anemia 1 ISO RGD:1602884 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 PMID:25741868|PMID:35213692 12060155 HEATR3 HEAT repeat containing 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:35213692 12060155 HEATR3 HEAT repeat containing 3 gene DOID:630 genetic disease ISO RGD:1602884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060155 HEATR3 HEAT repeat containing 3 gene DOID:9002367 Diamond-Blackfan Anemia 21 ISO RGD:1602884 D RGD:7240710 20221102 OMIM 12060155 HEATR3 HEAT repeat containing 3 gene DOID:9002367 Diamond-Blackfan Anemia 21 ISO RGD:1602884 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 21 PMID:25741868|PMID:35213692 12060174 PSMG3 proteasome assembly chaperone 3 gene DOID:630 genetic disease ISO RGD:1601948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060190 RGL1 ral guanine nucleotide dissociation stimulator like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1319015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12060190 RGL1 ral guanine nucleotide dissociation stimulator like 1 gene DOID:630 genetic disease ISO RGD:1319015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060190 RGL1 ral guanine nucleotide dissociation stimulator like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12060217 MBIP MAP3K12 binding inhibitory protein 1 gene DOID:12859 choreatic disease ISO RGD:1314857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign hereditary chorea PMID:11971878 12060217 MBIP MAP3K12 binding inhibitory protein 1 gene DOID:630 genetic disease ISO RGD:1314857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060217 MBIP MAP3K12 binding inhibitory protein 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314857 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12060238 TRAPPC9 trafficking protein particle complex subunit 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1605926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12060238 TRAPPC9 trafficking protein particle complex subunit 9 gene DOID:0081098 autosomal recessive intellectual developmental disorder 13 ISO RGD:1605926 D RGD:7240710 20180130 OMIM 12060238 TRAPPC9 trafficking protein particle complex subunit 9 gene DOID:0081098 autosomal recessive intellectual developmental disorder 13 ISO RGD:1605926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 13 | ClinVar Annotator: match by term: Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome PMID:17120046|PMID:18414213|PMID:2000476|PMID:20004763|PMID:20004764|PMID:20004765|PMID:21629298|PMID:22549410|PMID:25533962|PMID:25741868|PMID:28492532|PMID:29187737|PMID:29610177|PMID:33403770 12060238 TRAPPC9 trafficking protein particle complex subunit 9 gene DOID:1059 intellectual disability ISO RGD:1605926 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:18414213|PMID:25533962|PMID:25741868|PMID:28492532 12060238 TRAPPC9 trafficking protein particle complex subunit 9 gene DOID:1059 intellectual disability ISO RGD:1605926 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:18414213|PMID:25533962|PMID:25741868|PMID:28492532|PMID:29610177 12060238 TRAPPC9 trafficking protein particle complex subunit 9 gene DOID:1059 intellectual disability ISO RGD:1605926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25533962|PMID:25741868|PMID:26934580|PMID:28492532|PMID:29610177 12060238 TRAPPC9 trafficking protein particle complex subunit 9 gene DOID:5419 schizophrenia ISO RGD:1605926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12060238 TRAPPC9 trafficking protein particle complex subunit 9 gene DOID:630 genetic disease ISO RGD:1605926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:2000476|PMID:20004763|PMID:20004764|PMID:25533962|PMID:25741868|PMID:26934580|PMID:28492532|PMID:29187737|PMID:29610177|PMID:33403770 12060238 TRAPPC9 trafficking protein particle complex subunit 9 gene DOID:9006534 Nervous System Malformations ISO RGD:1605926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:2000476|PMID:20004763|PMID:20004764|PMID:20004765|PMID:21629298|PMID:25741868|PMID:28492532 12060267 LRRC45 leucine rich repeat containing 45 gene DOID:630 genetic disease ISO RGD:1604206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060288 ADGRE3 adhesion G protein-coupled receptor E3 gene DOID:630 genetic disease ISO RGD:1606765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060309 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:0060249 scoliosis ISO RGD:732695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:15704180|PMID:16826520|PMID:22167768|PMID:25741868|PMID:28492532|PMID:31680349 12060309 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:0060476 Perlman syndrome ISO RGD:732695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12060309 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:0080006 bone development disease ISO RGD:732695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16826531 12060309 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:0080110 contractures, pterygia, and spondylocarpotarsal fusion syndrome ISO RGD:732695 D RGD:7240710 20180130 OMIM 12060309 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:0080110 contractures, pterygia, and spondylocarpotarsal fusion syndrome ISO RGD:732695 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pterygium universale PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:24254455|PMID:25608830|PMID:25741868|PMID:25957469|PMID:26578207|PMID:26752647|PMID:27245440|PMID:28492532|PMID:30868735|PMID:31230720|PMID:33060286|PMID:34440395 12060309 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:732695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16826520|PMID:16826531 12060309 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B ISO RGD:732695 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome PMID:15704180|PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:24254455|PMID:24319099|PMID:25326635|PMID:25411939|PMID:25608830|PMID:25741868|PMID:25957469|PMID:26578207|PMID:26752647|PMID:27245440|PMID:28492532|PMID:30868735|PMID:31230720|PMID:31354645|PMID:31680349|PMID:32901917|PMID:33060286|PMID:34008892|PMID:34440395 12060309 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:0110991 Joubert syndrome 22 ISO RGD:732695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12060309 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:732695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:25741868 12060309 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:574 peripheral nervous system disease ISO RGD:732695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:26752647 12060309 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:630 genetic disease ISO RGD:732695 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:25326635|PMID:25608830|PMID:25741868|PMID:25957469|PMID:26752647|PMID:27245440|PMID:28492532|PMID:31230720 12060309 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:7148 rheumatoid arthritis ISO RGD:732695 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis PMID:23261301 12060309 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:870 neuropathy ISO RGD:732695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:26752647 12060309 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:732695 D RGD:7240710 20180130 OMIM 12060309 CHRNG cholinergic receptor nicotinic gamma subunit gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:732695 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:24254455|PMID:24319099|PMID:25411939|PMID:25608830|PMID:25741868|PMID:25957469|PMID:26578207|PMID:26752647|PMID:27245440|PMID:28492532|PMID:30868735|PMID:31230720|PMID:32901917|PMID:33060286|PMID:34008892|PMID:34440395 12060323 SUSD2 sushi domain containing 2 gene DOID:1826 epilepsy ISO RGD:1318458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12060323 SUSD2 sushi domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1318458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12060323 SUSD2 sushi domain containing 2 gene DOID:630 genetic disease ISO RGD:1318458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060342 A3GALT2 alpha 1,3-galactosyltransferase 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12060351 HEXA hexosaminidase subunit alpha gene DOID:0110225 Brugada syndrome 8 ISO RGD:1352150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 12060351 HEXA hexosaminidase subunit alpha gene DOID:10579 leukodystrophy ISO RGD:1352150 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:20363167|PMID:22789865|PMID:24767253|PMID:25606403|PMID:25741868 12060351 HEXA hexosaminidase subunit alpha gene DOID:1059 intellectual disability ISO RGD:1352150 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10571007|PMID:11463833|PMID:1301938|PMID:1307230|PMID:14727180|PMID:16088929|PMID:16352452|PMID:1830584|PMID:1833974|PMID:20301397|PMID:20672374|PMID:21228398|PMID:22441121|PMID:22723944|PMID:22789865|PMID:2294750|PMID:22975760|PMID:23852624|PMID:24033266|PMID:24374108|PMID:24518553|PMID:24940364|PMID:25287655|PMID:25557439|PMID:25741868|PMID:27033294|PMID:27054707|PMID:27896118|PMID:27959697|PMID:2824459|PMID:2848800|PMID:28492532|PMID:28503624|PMID:31293106|PMID:8230592|PMID:8352284|PMID:8488832|PMID:8490625 12060351 HEXA hexosaminidase subunit alpha gene DOID:14753 isovaleric acidemia ISO RGD:1352150 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Isovaleryl-CoA dehydrogenase deficiency PMID:15065574|PMID:16199547|PMID:1833974|PMID:22723944|PMID:25741868|PMID:28492532|PMID:7827134|PMID:8490625 12060351 HEXA hexosaminidase subunit alpha gene DOID:2717 Bloom syndrome ISO RGD:1352150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12060351 HEXA hexosaminidase subunit alpha gene DOID:3320 Tay-Sachs disease ISO RGD:1352150 D RGD:7240710 20180130 OMIM 12060351 HEXA hexosaminidase subunit alpha gene DOID:3320 Tay-Sachs disease ISO RGD:1352150 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GM2-ganglioside accumulation | ClinVar Annotator: match by term: Tay-Sachs disease | ClinVar Annotator: match by term: Tay-sachs disease, juvenile/adult PMID:10083731|PMID:10464605|PMID:10571007|PMID:10584247|PMID:10852376|PMID:11161796|PMID:11317368|PMID:11463833|PMID:11596984|PMID:11707436|PMID:12027830|PMID:12180151|PMID:12202988|PMID:12689698|PMID:1269177|PMID:1301189|PMID:1301190|PMID:1301938|PMID:1301958|PMID:1302612|PMID:1307230|PMID:1318511|PMID:1322637|PMID:1384323|PMID:1387685|PMID:1415222|PMID:14566483|PMID:14577003|PMID:14648242|PMID:14685153|PMID:14724290|PMID:14727180|PMID:1483696|PMID:15065574|PMID:15108204|PMID:1532289|PMID:15714079|PMID:16088929|PMID:16199547|PMID:16352452|PMID:16698036|PMID:16948947|PMID:17001642|PMID:17015493|PMID:17237499|PMID:17259242|PMID:17576681|PMID:1827944|PMID:1827945|PMID:1830584|PMID:1831451|PMID:1832817|PMID:1833974|PMID:18358410|PMID:1837283|PMID:18490185|PMID:18648917|PMID:19091716|PMID:19156839|PMID:19644708|PMID:19815695|PMID:19858779|PMID:1996872|PMID:20100466|PMID:20301350|PMID:20301397|PMID:20363167|PMID:20672374|PMID:20926324|PMID:21228398|PMID:2137287|PMID:2139660|PMID:2140574|PMID:2141777|PMID:2144098|PMID:2145759|PMID:21567908|PMID:21796138|PMID:21937992|PMID:21967858|PMID:22006919|PMID:22344438|PMID:22390110|PMID:22441121|PMID:22723944|PMID:2278539|PMID:22789865|PMID:2294750|PMID:22975760|PMID:23035047|PMID:23359698|PMID:23820084|PMID:23852624|PMID:24033266|PMID:24088041|PMID:24374108|PMID:24498621|PMID:24518553|PMID:24767253|PMID:24940364|PMID:24953648|PMID:25041270|PMID:2521932|PMID:2522660|PMID:2522679|PMID:25287655|PMID:2531748|PMID:25326635|PMID:25525159|PMID:25557439|PMID:25606403|PMID:25640679|PMID:25741868|PMID:25741876|PMID:25860343|PMID:26350204|PMID:26467025|PMID:26633545|PMID:27033294|PMID:27054707|PMID:27362553|PMID:27682588|PMID:27896118|PMID:27959697|PMID:2824459|PMID:28359061|PMID:2837213|PMID:2848800|PMID:28492532|PMID:28503624|PMID:28739864|PMID:29214523|PMID:2934978|PMID:29482223|PMID:2954459|PMID:2961848|PMID:2970528|PMID:2973311|PMID:2973464|PMID:29973161|PMID:30506202|PMID:31076878|PMID:31130284|PMID:31242539|PMID:31293106|PMID:31367523|PMID:31388111|PMID:31428437|PMID:31839005|PMID:32968423|PMID:33083013|PMID:33240792|PMID:33426165|PMID:33547378|PMID:3362213|PMID:3375249|PMID:3754980|PMID:3837850|PMID:6236221|PMID:6959123|PMID:7063277|PMID:7551830|PMID:7717398|PMID:7749419|PMID:7827134|PMID:7837766|PMID:7858168|PMID:7898712|PMID:7902672|PMID:7951261|PMID:803011|PMID:8044648|PMID:8081943|PMID:8123671|PMID:8230592|PMID:8257995|PMID:8326491|PMID:8328462|PMID:8328470|PMID:8343225|PMID:8352284|PMID:8397824|PMID:8444467|PMID:8445615|PMID:8484765|PMID:8488832|PMID:8490625|PMID:8581357|PMID:8672428|PMID:8730294|PMID:8757036|PMID:8995368|PMID:9090523|PMID:9090529|PMID:9150157|PMID:9153525|PMID:9169471|PMID:9222766|PMID:9272736|PMID:9338583|PMID:9401008|PMID:9536098|PMID:9603435|PMID:9694901|PMID:9851891 12060351 HEXA hexosaminidase subunit alpha gene DOID:3321 GM2 gangliosidosis ISO RGD:1352150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gm2-gangliosidosis, late onset PMID:10852376|PMID:14724290|PMID:1483696|PMID:15714079|PMID:17576681|PMID:18490185|PMID:19815695|PMID:20363167|PMID:21228398|PMID:2145759|PMID:22006919|PMID:2278539|PMID:22975760|PMID:2522660|PMID:2522679|PMID:25741868|PMID:27033294|PMID:27682588|PMID:28492532|PMID:31076878|PMID:31367523|PMID:6236221|PMID:8328462|PMID:8343225|PMID:8490625|PMID:8757036|PMID:9090523|PMID:9536098 12060351 HEXA hexosaminidase subunit alpha gene DOID:4795 GM2 Gangliosidosis, AB variant ISO RGD:1352150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease, variant AB PMID:10571007|PMID:11463833|PMID:1301938|PMID:1307230|PMID:14727180|PMID:16088929|PMID:16352452|PMID:1830584|PMID:1833974|PMID:18358410|PMID:20301397|PMID:20672374|PMID:21228398|PMID:22441121|PMID:22723944|PMID:22789865|PMID:2294750|PMID:22975760|PMID:23852624|PMID:24033266|PMID:24374108|PMID:24518553|PMID:24940364|PMID:25287655|PMID:25557439|PMID:25741868|PMID:27033294|PMID:27896118|PMID:27959697|PMID:2824459|PMID:2848800|PMID:28492532|PMID:28503624|PMID:33083013|PMID:8230592|PMID:8352284|PMID:8488832|PMID:8490625 12060351 HEXA hexosaminidase subunit alpha gene DOID:630 genetic disease ISO RGD:1352150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10083731|PMID:10571007|PMID:10852376|PMID:11317368|PMID:11463833|PMID:11707436|PMID:12202988|PMID:1301190|PMID:1301938|PMID:1302612|PMID:1307230|PMID:1318511|PMID:1384323|PMID:1387685|PMID:1415222|PMID:14566483|PMID:14577003|PMID:14727180|PMID:1483696|PMID:1532289|PMID:15714079|PMID:16088929|PMID:16199547|PMID:16352452|PMID:16698036|PMID:16948947|PMID:17015493|PMID:17237499|PMID:17576681|PMID:1830584|PMID:1831451|PMID:1832817|PMID:1833974|PMID:1837283|PMID:18490185|PMID:19091716|PMID:19815695|PMID:19858779|PMID:20100466|PMID:20301350|PMID:20301397|PMID:20363167|PMID:20672374|PMID:21228398|PMID:2137287|PMID:2140574|PMID:2144098|PMID:2145759|PMID:22006919|PMID:22344438|PMID:22441121|PMID:22723944|PMID:2278539|PMID:22789865|PMID:2294750|PMID:22975760|PMID:23359698|PMID:23852624|PMID:24033266|PMID:24088041|PMID:24374108|PMID:24498621|PMID:24518553|PMID:24767253|PMID:24940364|PMID:24953648|PMID:25041270|PMID:2521932|PMID:2522660|PMID:2522679|PMID:25287655|PMID:25557439|PMID:25606403|PMID:25741868|PMID:25741876|PMID:26633545|PMID:27033294|PMID:27682588|PMID:27896118|PMID:27959697|PMID:2824459|PMID:28359061|PMID:2848800|PMID:28492532|PMID:28503624|PMID:29214523|PMID:2961848|PMID:2970528|PMID:2973311|PMID:31076878|PMID:31367523|PMID:6236221|PMID:6959123|PMID:7551830|PMID:7858168|PMID:8123671|PMID:8230592|PMID:8326491|PMID:8328462|PMID:8343225|PMID:8352284|PMID:8444467|PMID:8488832|PMID:8490625|PMID:8672428|PMID:8730294|PMID:8995368|PMID:9169471|PMID:9272736|PMID:9338583|PMID:9401008|PMID:9536098|PMID:9694901 12060351 HEXA hexosaminidase subunit alpha gene DOID:9001313 Gm2-Gangliosidosis, Adult Chronic Type ISO RGD:1352150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gm2-gangliosidosis, adult | ClinVar Annotator: match by term: Gm2-gangliosidosis, adult-onset PMID:10852376|PMID:14566483|PMID:14577003|PMID:1483696|PMID:1532289|PMID:15714079|PMID:16088929|PMID:17015493|PMID:17237499|PMID:17576681|PMID:18490185|PMID:19815695|PMID:20363167|PMID:21228398|PMID:2145759|PMID:22006919|PMID:2278539|PMID:22789865|PMID:22975760|PMID:2522660|PMID:2522679|PMID:25741868|PMID:27033294|PMID:27682588|PMID:28492532|PMID:31076878|PMID:6236221|PMID:8328462|PMID:8343225|PMID:8490625|PMID:9536098 12060351 HEXA hexosaminidase subunit alpha gene DOID:9001497 Tay-Sachs Disease, Juvenile ISO RGD:1352150 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Tay-sachs disease, juvenile PMID:1301189|PMID:25741868 12060351 HEXA hexosaminidase subunit alpha gene DOID:9003240 Tay-Sachs Disease, Variant B1 ISO RGD:1352150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease, B1 variant PMID:10584247|PMID:1302612|PMID:1318511|PMID:14577003|PMID:16088929|PMID:17015493|PMID:1831451|PMID:1832817|PMID:1833974|PMID:18490185|PMID:20100466|PMID:20301350|PMID:2137287|PMID:22441121|PMID:22789865|PMID:23359698|PMID:24953648|PMID:25041270|PMID:2521932|PMID:25741868|PMID:25741876|PMID:27896118|PMID:28359061|PMID:28492532|PMID:2961848|PMID:2973311|PMID:7551830|PMID:8730294|PMID:9272736 12060351 HEXA hexosaminidase subunit alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352150 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12060351 HEXA hexosaminidase subunit alpha gene DOID:9006548 Gm2-Gangliosidosis, Variant B1 ISO RGD:1352150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gm2-gangliosidosis, variant b1 PMID:1532289 12060351 HEXA hexosaminidase subunit alpha gene DOID:9008086 Developmental Disabilities ISO RGD:1352150 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:1318511|PMID:16088929|PMID:17015493|PMID:1831451|PMID:1832817|PMID:1833974|PMID:18490185|PMID:20100466|PMID:20301350|PMID:2137287|PMID:22441121|PMID:22789865|PMID:23359698|PMID:24953648|PMID:25041270|PMID:2521932|PMID:25741868|PMID:25741876|PMID:28359061|PMID:28492532|PMID:2961848|PMID:2973311|PMID:7551830|PMID:8730294 12060351 HEXA hexosaminidase subunit alpha gene DOID:9256 colorectal cancer ISO RGD:1352150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12060372 SLC15A2 solute carrier family 15 member 2 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:731699 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12060372 SLC15A2 solute carrier family 15 member 2 gene DOID:1909 melanoma ISO RGD:731699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 12060372 SLC15A2 solute carrier family 15 member 2 gene DOID:3910 lung adenocarcinoma ISO RGD:731699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12060372 SLC15A2 solute carrier family 15 member 2 gene DOID:630 genetic disease ISO RGD:731699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060372 SLC15A2 solute carrier family 15 member 2 gene DOID:9006205 Animal Disease Models ISO RGD:731699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12060372 SLC15A2 solute carrier family 15 member 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:731699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12060372 SLC15A2 solute carrier family 15 member 2 gene DOID:9270 alkaptonuria ISO RGD:731699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12060398 ZNF202 zinc finger protein 202 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1353784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12060398 ZNF202 zinc finger protein 202 gene DOID:5419 schizophrenia ISO RGD:1353784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12060398 ZNF202 zinc finger protein 202 gene DOID:630 genetic disease ISO RGD:1353784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060398 ZNF202 zinc finger protein 202 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1353784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12060398 ZNF202 zinc finger protein 202 gene DOID:9007661 Dwarfism ISO RGD:1353784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:12200419|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16225172|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29478820|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30609409|PMID:31517061|PMID:32295037|PMID:32489884|PMID:33123633|PMID:33532864|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:736835 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:12200419|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16225172|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:29478820|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30609409|PMID:32295037|PMID:32489884|PMID:33123633|PMID:33532864|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:736835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:12200419|PMID:12362414|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:12809643|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30293990|PMID:30455135|PMID:30609409|PMID:30881520|PMID:30912279|PMID:31372341|PMID:31770251|PMID:32295037|PMID:32489884|PMID:33123633|PMID:33532864|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:736835 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12200419|PMID:12362414|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:12809643|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30293990|PMID:30455135|PMID:30609409|PMID:30881520|PMID:30912279|PMID:31372341|PMID:31770251|PMID:32295037|PMID:32489884|PMID:32528171|PMID:33123633|PMID:33532864|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:0080000 muscular disease ISO RGD:736835 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:25741868 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:10907 microcephaly ISO RGD:736835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:12450 pancytopenia ISO RGD:736835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancytopenia PMID:10090476|PMID:12410208|PMID:12707442|PMID:15622536|PMID:16996287|PMID:17936304|PMID:20301431|PMID:22975760|PMID:25741868|PMID:28492532|PMID:7711730|PMID:9600456 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:1826 epilepsy ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizure PMID:12673791|PMID:17709715|PMID:18363739|PMID:20301431|PMID:21227726|PMID:22854105|PMID:23700290|PMID:25741868|PMID:25919294|PMID:28492532|PMID:28516040|PMID:8682496|PMID:9600456 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:3146 lipid metabolism disorder ISO RGD:736835 D RGD:9068941 20200609 RGD infantile form CPT2 deficiency, OMIM:600649, R631C PMID:1528846|REF_RGD_ID:1600742 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:423 myopathy ISO RGD:736835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:630 genetic disease ISO RGD:736835 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16615913|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:2762996|PMID:27629963|PMID:28492532|PMID:28779239|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:32295037|PMID:736528|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:848 arthritis ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arthritis PMID:10090476|PMID:12410208|PMID:12707442|PMID:15622536|PMID:16996287|PMID:17936304|PMID:20301431|PMID:22975760|PMID:25741868|PMID:28492532|PMID:7711730|PMID:9600456 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:9000884 Rhabdomyolysis ISO RGD:736835 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:2762996|PMID:27629963|PMID:28492532|PMID:28779239|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:32295037|PMID:736528|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:9001501 Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal ISO RGD:736835 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL | ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, NEONATAL | ClinVar Annotator: match by term: CPT2 DEFICIENCY, LETHAL NEONATAL | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal PMID:10090476|PMID:10398215|PMID:10607472|PMID:10862092|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19762733|PMID:20301431|PMID:20810031|PMID:20934285|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22652984|PMID:22854105|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23700290|PMID:23757202|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27525900|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28492532|PMID:28516040|PMID:28600779|PMID:28779239|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30455135|PMID:30609409|PMID:31372341|PMID:32295037|PMID:32528171|PMID:33123633|PMID:33532864|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9562964|PMID:9600456|PMID:9758712 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:9001501 Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal susceptibility ISO RGD:736835 D RGD:7240710 20230517 OMIM 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:9003171 Primary Dysautonomias ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dysautonomia PMID:10090476|PMID:12410208|PMID:12707442|PMID:15622536|PMID:16996287|PMID:17936304|PMID:20301431|PMID:22975760|PMID:25741868|PMID:28492532|PMID:7711730|PMID:9600456 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:9003830 Primary Aldosteronism, Seizures, and Neurologic Abnormalities ISO RGD:736835 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities PMID:10090476|PMID:18550408|PMID:20301431|PMID:21709843|PMID:25741868|PMID:25827434|PMID:28492532|PMID:9758712 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:10090476|PMID:10607472|PMID:11257506|PMID:12673791|PMID:12707442|PMID:15642848|PMID:16615913|PMID:18550408|PMID:18925671|PMID:24398345|PMID:24602495|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34063237 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:9005627 Metabolic Brain Diseases ISO RGD:736835 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21816645 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:9006534 Nervous System Malformations ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:12673791|PMID:17709715|PMID:18363739|PMID:20301431|PMID:21227726|PMID:22854105|PMID:23700290|PMID:25741868|PMID:25919294|PMID:28492532|PMID:28516040|PMID:8682496|PMID:9600456 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:9006638 Sinus Tachycardia ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sinus tachycardia PMID:10090476|PMID:12410208|PMID:12707442|PMID:15622536|PMID:16996287|PMID:17936304|PMID:20301431|PMID:22975760|PMID:25741868|PMID:28492532|PMID:7711730|PMID:9600456 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:9007573 Flatfoot ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: flatfoot PMID:10090476|PMID:10607472|PMID:11257506|PMID:12673791|PMID:12707442|PMID:15642848|PMID:16615913|PMID:18550408|PMID:18925671|PMID:24398345|PMID:24602495|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34063237 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:9007623 Late-Onset Carnitine Palmitoyltransferase II Deficiency ISO RGD:736835 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, late-onset | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced PMID:10090476|PMID:10398215|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:16168441|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:19762733|PMID:1999498|PMID:20301431|PMID:20661589|PMID:20810031|PMID:21227726|PMID:21709843|PMID:21913903|PMID:22652984|PMID:22854105|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23700290|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28492532|PMID:28516040|PMID:28600779|PMID:28779239|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30455135|PMID:30609409|PMID:31372341|PMID:32295037|PMID:32528171|PMID:33123633|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9562964|PMID:9600456|PMID:9758712 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:9007623 Late-Onset Carnitine Palmitoyltransferase II Deficiency susceptibility ISO RGD:736835 D RGD:7240710 20230517 OMIM 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:9007668 Carnitine Palmitoyltransferase II Deficiency, Infantile ISO RGD:736835 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CPT2 DEFICIENCY, INFANTILE | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile PMID:10090476|PMID:10398215|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19762733|PMID:1999498|PMID:20301431|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23700290|PMID:23757202|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26636822|PMID:27067077|PMID:27123472|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28600779|PMID:28779239|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30455135|PMID:30609409|PMID:31372341|PMID:31770251|PMID:32295037|PMID:32528171|PMID:33123633|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:9007668 Carnitine Palmitoyltransferase II Deficiency, Infantile susceptibility ISO RGD:736835 D RGD:7240710 20230517 OMIM 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:9008214 Genu Valgum ISO RGD:736835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genu valgum PMID:10090476|PMID:10607472|PMID:11257506|PMID:12673791|PMID:12707442|PMID:15642848|PMID:16615913|PMID:18550408|PMID:18925671|PMID:24398345|PMID:24602495|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34063237 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:9008520 Chronic Pain ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chronic pain PMID:10090476|PMID:12410208|PMID:12707442|PMID:15622536|PMID:16996287|PMID:17936304|PMID:20301431|PMID:22975760|PMID:25741868|PMID:28492532|PMID:7711730|PMID:9600456 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:936 brain disease ISO RGD:736835 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4 PMID:10090476|PMID:10398215|PMID:10862092|PMID:10873395|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:16168441|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:19762733|PMID:20301431|PMID:20810031|PMID:21227726|PMID:21709843|PMID:21913903|PMID:22652984|PMID:22854105|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23700290|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28492532|PMID:28516040|PMID:28779239|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30455135|PMID:30609409|PMID:31372341|PMID:32295037|PMID:32528171|PMID:33123633|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9562964|PMID:9600456|PMID:9758712 12060417 CPT2 carnitine palmitoyltransferase 2 gene DOID:936 brain disease susceptibility ISO RGD:736835 D RGD:7240710 20230517 OMIM 12060430 NOB1 NIN1 (RPN12) binding protein 1 homolog gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1603053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12060430 NOB1 NIN1 (RPN12) binding protein 1 homolog gene DOID:630 genetic disease ISO RGD:1603053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060430 NOB1 NIN1 (RPN12) binding protein 1 homolog gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:735222 D RGD:9068941 20200609 RGD mRNA:increased expression:cochlea PMID:21219967|REF_RGD_ID:10766449 12060443 NSF N-ethylmaleimide sensitive factor, vesicle fusing ATPase gene DOID:3328 temporal lobe epilepsy ISO RGD:621594 D RGD:9068941 20200609 RGD protein:increased expression:forebrain, postsynaptic density PMID:11226670|REF_RGD_ID:5147998 12060443 NSF N-ethylmaleimide sensitive factor, vesicle fusing ATPase gene DOID:630 genetic disease ISO RGD:733160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060443 NSF N-ethylmaleimide sensitive factor, vesicle fusing ATPase gene DOID:9000688 Developmental and Epileptic Encephalopathy 96 ISO RGD:733160 D RGD:7240710 20210616 OMIM 12060443 NSF N-ethylmaleimide sensitive factor, vesicle fusing ATPase gene DOID:9000688 Developmental and Epileptic Encephalopathy 96 ISO RGD:733160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 96 PMID:25741868|PMID:31675180 12060472 TBX5 T-box transcription factor 5 gene DOID:0050651 atrioventricular septal defect ISO RGD:1313887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect PMID:25741868 12060472 TBX5 T-box transcription factor 5 gene DOID:0060224 atrial fibrillation ISO RGD:1313887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12060472 TBX5 T-box transcription factor 5 gene DOID:0060468 Holt-Oram syndrome ISO RGD:1313887 D RGD:7240710 20180130 OMIM 12060472 TBX5 T-box transcription factor 5 gene DOID:0060468 Holt-Oram syndrome ISO RGD:1313887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holt-Oram syndrome PMID:10077612|PMID:10077762|PMID:10842287|PMID:11183182|PMID:11431700|PMID:11555635|PMID:12499378|PMID:12624158|PMID:12789647|PMID:12818525|PMID:14402857|PMID:15096952|PMID:15355425|PMID:15710732|PMID:16183809|PMID:16199547|PMID:16380715|PMID:16917909|PMID:17534187|PMID:18451335|PMID:18706711|PMID:19648116|PMID:20450920|PMID:20519243|PMID:2070544|PMID:21637475|PMID:21897873|PMID:22333898|PMID:24033266|PMID:24664498|PMID:25216260|PMID:25260786|PMID:25263169|PMID:25623069|PMID:25680289|PMID:25741868|PMID:25931334|PMID:26219450|PMID:26401820|PMID:26490186|PMID:26762269|PMID:26859351|PMID:26938784|PMID:28492532|PMID:28855715|PMID:29755943|PMID:30552424|PMID:31215120|PMID:32236096|PMID:34917776|PMID:8911604|PMID:8988164|PMID:8988165 12060472 TBX5 T-box transcription factor 5 gene DOID:0080334 aortic valve disease 2 ISO RGD:1313887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic valve disease 2 PMID:10077612|PMID:10077762|PMID:11183182|PMID:11431700|PMID:11555635|PMID:12499378|PMID:12789647|PMID:14402857|PMID:15096952|PMID:15355425|PMID:15710732|PMID:16183809|PMID:16199547|PMID:16332960|PMID:16380715|PMID:16917909|PMID:17534187|PMID:17576681|PMID:18451335|PMID:18706711|PMID:19648116|PMID:20450920|PMID:20519243|PMID:2070544|PMID:21637475|PMID:21897873|PMID:24033266|PMID:24664498|PMID:25216260|PMID:25260786|PMID:25263169|PMID:25500235|PMID:25623069|PMID:25640679|PMID:25680289|PMID:25741868|PMID:25931334|PMID:26219450|PMID:26401820|PMID:26490186|PMID:26762269|PMID:26859351|PMID:28492532|PMID:28855715|PMID:30538526|PMID:30552424|PMID:31215120|PMID:31983221|PMID:32236096|PMID:34917776|PMID:8911604|PMID:8988164|PMID:8988165|PMID:9536098 12060472 TBX5 T-box transcription factor 5 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:1313887 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect 1 12060472 TBX5 T-box transcription factor 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:1313887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17534187|PMID:25741868|PMID:28492532 12060472 TBX5 T-box transcription factor 5 gene DOID:13620 patent foramen ovale ISO RGD:1313887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type PMID:25741868|PMID:29555671 12060472 TBX5 T-box transcription factor 5 gene DOID:1682 congenital heart disease ISO RGD:1313887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:10077612|PMID:10077762|PMID:12499378|PMID:12789647|PMID:16380715|PMID:20519243|PMID:25216260|PMID:25931334|PMID:28492532|PMID:34917776 12060472 TBX5 T-box transcription factor 5 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1313887 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868 12060472 TBX5 T-box transcription factor 5 gene DOID:5844 myocardial infarction treatment ISO RGD:1305702 D RGD:9068941 20200609 RGD PMID:23948075|REF_RGD_ID:7327215 12060472 TBX5 T-box transcription factor 5 gene DOID:630 genetic disease ISO RGD:1313887 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10077612|PMID:12789647|PMID:14402857|PMID:15710732|PMID:16183809|PMID:16917909|PMID:17534187|PMID:2070544|PMID:25680289|PMID:25741868|PMID:28492532|PMID:8911604|PMID:8988164 12060472 TBX5 T-box transcription factor 5 gene DOID:9003748 Thumb Deformity ISO RGD:1313887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thumb deformity 12060509 CYP2W1 cytochrome P450 family 2 subfamily W member 1 gene DOID:630 genetic disease ISO RGD:1313076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060552 DMC1 DNA meiotic recombinase 1 gene DOID:0050457 Sertoli cell-only syndrome ISO RGD:1316905 D RGD:9068941 20220825 MouseDO OMIM:305700 | OMIM:400042 12060552 DMC1 DNA meiotic recombinase 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12060552 DMC1 DNA meiotic recombinase 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1316904 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12060552 DMC1 DNA meiotic recombinase 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1316904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12060552 DMC1 DNA meiotic recombinase 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1316904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12060552 DMC1 DNA meiotic recombinase 1 gene DOID:14227 azoospermia ISO RGD:1316904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 12060552 DMC1 DNA meiotic recombinase 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1316904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12060552 DMC1 DNA meiotic recombinase 1 gene DOID:630 genetic disease ISO RGD:1316904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060573 GEMIN2 gem nuclear organelle associated protein 2 gene DOID:630 genetic disease ISO RGD:1351557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060573 GEMIN2 gem nuclear organelle associated protein 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1351557 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12060595 FPGT fucose-1-phosphate guanylyltransferase gene DOID:4450 renal cell carcinoma ISO RGD:1342569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 12060595 FPGT fucose-1-phosphate guanylyltransferase gene DOID:630 genetic disease ISO RGD:1342569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060623 OR51V20 olfactory receptor family 51 subfamily V member 20 gene DOID:0080773 delta beta-thalassemia ISO RGD:1343262 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12060623 OR51V20 olfactory receptor family 51 subfamily V member 20 gene DOID:630 genetic disease ISO RGD:1343262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060627 TSPAN1 tetraspanin 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1354320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:15466003|PMID:17576681|PMID:17878207|PMID:17906881|PMID:18195152|PMID:18691338|PMID:19067344|PMID:19299310|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:24033266|PMID:24123366|PMID:25326635|PMID:25333069|PMID:25741868|PMID:26467025|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:30961548|PMID:34324503|PMID:9536098 12060627 TSPAN1 tetraspanin 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1354320 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:15466003|PMID:17576681|PMID:17878207|PMID:17906881|PMID:18195152|PMID:18691338|PMID:19067344|PMID:19299310|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:24033266|PMID:24123366|PMID:25326635|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26908613|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:29555514|PMID:30961548|PMID:34324503|PMID:9536098 12060627 TSPAN1 tetraspanin 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1354320 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 12060627 TSPAN1 tetraspanin 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1354320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 12060627 TSPAN1 tetraspanin 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12060627 TSPAN1 tetraspanin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1354320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12060627 TSPAN1 tetraspanin 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1354320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12060627 TSPAN1 tetraspanin 1 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1354320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:11709191|PMID:12588800|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18330676|PMID:19299310|PMID:20215985|PMID:20816175|PMID:21361872|PMID:21447391|PMID:22323514|PMID:22522420|PMID:22554691|PMID:23326386|PMID:23689641|PMID:23894383|PMID:25390965|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:27391550|PMID:27493216|PMID:28424332|PMID:28492532|PMID:28688748|PMID:29302074|PMID:29555514|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33200426|PMID:9536098 12060627 TSPAN1 tetraspanin 1 gene DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O ISO RGD:1354320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 15 PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22819665|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:23894383|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27604308|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29096039|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:31872526|PMID:32115343|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 12060627 TSPAN1 tetraspanin 1 gene DOID:0111229 congenital muscular dystrophy-dystroglycanopathy type A ISO RGD:1354320 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies PMID:11709191|PMID:12588800|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17559086|PMID:17878207|PMID:17881266|PMID:17906881|PMID:19299310|PMID:20816175|PMID:21447391|PMID:22323514|PMID:23326386|PMID:25741868|PMID:26013959|PMID:26908613|PMID:27391550|PMID:28492532 12060627 TSPAN1 tetraspanin 1 gene DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 ISO RGD:1354320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23894383|PMID:24033266|PMID:24123366|PMID:24282183|PMID:25333069|PMID:25390965|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:29555514|PMID:30961548|PMID:33144682|PMID:33200426|PMID:34324503|PMID:9536098 12060627 TSPAN1 tetraspanin 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1354320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12060627 TSPAN1 tetraspanin 1 gene DOID:0112374 muscular dystrophy-dystroglycanopathy ISO RGD:1354320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to dystroglycanopathy | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22819665|PMID:23326386|PMID:23453855|PMID:23689641|PMID:23894383|PMID:24282183|PMID:24731844|PMID:25390965|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29096039|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 12060627 TSPAN1 tetraspanin 1 gene DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 ISO RGD:1354320 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED PMID:11709191|PMID:12588800|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29555514|PMID:30961548|PMID:34324503|PMID:9536098 12060627 TSPAN1 tetraspanin 1 gene DOID:1059 intellectual disability ISO RGD:1354320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17878207|PMID:25741868|PMID:28492532 12060627 TSPAN1 tetraspanin 1 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1354320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy 12060627 TSPAN1 tetraspanin 1 gene DOID:630 genetic disease ISO RGD:1354320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15466003|PMID:17576681|PMID:17906881|PMID:19299310|PMID:20816175|PMID:21447391|PMID:22323514|PMID:22554691|PMID:22819665|PMID:25741868|PMID:26467025|PMID:26908613|PMID:27391550|PMID:27493216|PMID:28424332|PMID:28492532|PMID:28688748|PMID:29096039|PMID:29555514|PMID:9536098 12060627 TSPAN1 tetraspanin 1 gene DOID:9001993 Retinitis Pigmentosa 76 ISO RGD:1354320 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 76 PMID:11709191|PMID:12588800|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:23326386|PMID:24033266|PMID:24123366|PMID:24282183|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28832562|PMID:9536098 12060627 TSPAN1 tetraspanin 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1354320 D RGD:9068941 20200609 RGD PMID:12115476|REF_RGD_ID:1331679 12060627 TSPAN1 tetraspanin 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1354320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia 12060627 TSPAN1 tetraspanin 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1354320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12060627 TSPAN1 tetraspanin 1 gene DOID:9281 phenylketonuria ISO RGD:1354320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Phenylketonuria PMID:25741868 12060725 ZNF184 zinc finger protein 184 gene DOID:10283 prostate cancer ISO RGD:1312451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12060725 ZNF184 zinc finger protein 184 gene DOID:630 genetic disease ISO RGD:1312451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060755 WASF1 WASP family member 1 gene DOID:0080600 COVID-19 ISO RGD:1343996 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12060755 WASF1 WASP family member 1 gene DOID:1059 intellectual disability ISO RGD:1343996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:29961568|PMID:32581362 12060755 WASF1 WASP family member 1 gene DOID:630 genetic disease ISO RGD:1343996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060755 WASF1 WASP family member 1 gene DOID:9001367 NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES ISO RGD:1343996 D RGD:7240710 20220323 OMIM 12060755 WASF1 WASP family member 1 gene DOID:9001367 NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES ISO RGD:1343996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with absent language and variable seizures PMID:25741868|PMID:29961568|PMID:32581362 12060755 WASF1 WASP family member 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1343996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:29961568|PMID:32581362 12060778 EIF3E eukaryotic translation initiation factor 3 subunit E gene DOID:3910 lung adenocarcinoma ISO RGD:1323023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12060778 EIF3E eukaryotic translation initiation factor 3 subunit E gene DOID:630 genetic disease ISO RGD:1323023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060778 EIF3E eukaryotic translation initiation factor 3 subunit E gene DOID:9006205 Animal Disease Models ISO RGD:1323023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12060795 TMX3 thioredoxin related transmembrane protein 3 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1348440 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12060795 TMX3 thioredoxin related transmembrane protein 3 gene DOID:11372 megacolon ISO RGD:1348440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12060795 TMX3 thioredoxin related transmembrane protein 3 gene DOID:630 genetic disease ISO RGD:1348440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060795 TMX3 thioredoxin related transmembrane protein 3 gene DOID:8445 intestinal volvulus ISO RGD:1348440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12060795 TMX3 thioredoxin related transmembrane protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12060795 TMX3 thioredoxin related transmembrane protein 3 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1348440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12060815 SPCS1 signal peptidase complex subunit 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1346470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12060815 SPCS1 signal peptidase complex subunit 1 gene DOID:630 genetic disease ISO RGD:1346470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060823 ACSL3 acyl-CoA synthetase long chain family member 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:1602231 D RGD:9068941 20200609 RGD PMID:27270436|REF_RGD_ID:13831303 12060823 ACSL3 acyl-CoA synthetase long chain family member 3 gene DOID:10283 prostate cancer treatment ISO RGD:1602231 D RGD:9068941 20200609 RGD PMID:27270436|REF_RGD_ID:13831303 12060823 ACSL3 acyl-CoA synthetase long chain family member 3 gene DOID:1324 lung cancer ISO RGD:1602231 D RGD:9068941 20200609 RGD PMID:23936004|REF_RGD_ID:13831302 12060823 ACSL3 acyl-CoA synthetase long chain family member 3 gene DOID:1612 breast cancer ISO RGD:1602231 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:23512947|REF_RGD_ID:13831301 12060823 ACSL3 acyl-CoA synthetase long chain family member 3 gene DOID:1612 breast cancer disease_progression ISO RGD:1602231 D RGD:9068941 20200609 RGD DNA:deletion PMID:28977883|REF_RGD_ID:13831299 12060823 ACSL3 acyl-CoA synthetase long chain family member 3 gene DOID:2841 asthma ISO RGD:1602231 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:19221603|REF_RGD_ID:13831295 12060823 ACSL3 acyl-CoA synthetase long chain family member 3 gene DOID:630 genetic disease ISO RGD:1602231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060823 ACSL3 acyl-CoA synthetase long chain family member 3 gene DOID:9002283 Experimental Allergic Asthma ISO RGD:733171 D RGD:9068941 20200609 RGD PMID:23526225|REF_RGD_ID:13831300 12060823 ACSL3 acyl-CoA synthetase long chain family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12060823 ACSL3 acyl-CoA synthetase long chain family member 3 gene DOID:9005372 Inflammation ISO RGD:70552 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:14622223|REF_RGD_ID:2315920 12060823 ACSL3 acyl-CoA synthetase long chain family member 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70552 D RGD:9068941 20200609 RGD PMID:21136146|REF_RGD_ID:13831298 12060823 ACSL3 acyl-CoA synthetase long chain family member 3 gene DOID:9007925 Sudden Cardiac Death disease_progression ISO RGD:1602231 D RGD:9068941 20200609 RGD PMID:22661490|REF_RGD_ID:13831296 12060842 SKIC3 SKI3 subunit of superkiller complex gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314461 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12060842 SKIC3 SKI3 subunit of superkiller complex gene DOID:0111414 trichohepatoenteric syndrome ISO RGD:1314461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome PMID:24033266 12060842 SKIC3 SKI3 subunit of superkiller complex gene DOID:0111415 trichohepatoenteric syndrome 1 ISO RGD:1314461 D RGD:7240710 20180130 OMIM 12060842 SKIC3 SKI3 subunit of superkiller complex gene DOID:0111415 trichohepatoenteric syndrome 1 ISO RGD:1314461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 PMID:16199547|PMID:20176027|PMID:21120949|PMID:23326254|PMID:25326635|PMID:25714577|PMID:25741868|PMID:28292286|PMID:28492532|PMID:28750028|PMID:29527791|PMID:34093558 12060842 SKIC3 SKI3 subunit of superkiller complex gene DOID:10283 prostate cancer ISO RGD:1314461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12060842 SKIC3 SKI3 subunit of superkiller complex gene DOID:612 primary immunodeficiency disease ISO RGD:1314461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:20176027|PMID:21120949|PMID:25741868|PMID:28492532 12060842 SKIC3 SKI3 subunit of superkiller complex gene DOID:630 genetic disease ISO RGD:1314461 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12060842 SKIC3 SKI3 subunit of superkiller complex gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12060842 SKIC3 SKI3 subunit of superkiller complex gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314461 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12060905 TMEM219 transmembrane protein 219 gene DOID:0060019 coronin-1A deficiency ISO RGD:1604542 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12060905 TMEM219 transmembrane protein 219 gene DOID:0060041 autism spectrum disorder ISO RGD:1604542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12060905 TMEM219 transmembrane protein 219 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1604542 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12060905 TMEM219 transmembrane protein 219 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1604542 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12060905 TMEM219 transmembrane protein 219 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1604542 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12060905 TMEM219 transmembrane protein 219 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1604542 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12060905 TMEM219 transmembrane protein 219 gene DOID:12849 autistic disorder ISO RGD:1604542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12060905 TMEM219 transmembrane protein 219 gene DOID:1882 atrial heart septal defect ISO RGD:1604542 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12060905 TMEM219 transmembrane protein 219 gene DOID:5419 schizophrenia ISO RGD:1604542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12060905 TMEM219 transmembrane protein 219 gene DOID:630 genetic disease ISO RGD:1604542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060905 TMEM219 transmembrane protein 219 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12060905 TMEM219 transmembrane protein 219 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1604542 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12060905 TMEM219 transmembrane protein 219 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1604542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12060935 TSSK4 testis specific serine kinase 4 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1345321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12060935 TSSK4 testis specific serine kinase 4 gene DOID:630 genetic disease ISO RGD:1345321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060935 TSSK4 testis specific serine kinase 4 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1345321 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12060935 TSSK4 testis specific serine kinase 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1345321 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12060945 PAPOLA poly(A) polymerase alpha gene DOID:630 genetic disease ISO RGD:1318583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060975 SHROOM1 shroom family member 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605292 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12060975 SHROOM1 shroom family member 1 gene DOID:0080600 COVID-19 ISO RGD:1605292 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12060975 SHROOM1 shroom family member 1 gene DOID:630 genetic disease ISO RGD:1605292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060975 SHROOM1 shroom family member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12060975 SHROOM1 shroom family member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605292 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12060987 FZD1 frizzled class receptor 1 gene DOID:3459 breast carcinoma ISO RGD:736261 D RGD:9068941 20200609 RGD protein:increased expression:tumor PMID:15492823|REF_RGD_ID:2298699 12060987 FZD1 frizzled class receptor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12060987 FZD1 frizzled class receptor 1 gene DOID:630 genetic disease ISO RGD:736261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12060992 IGF2 insulin like growth factor 2 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:737149 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:20007936|PMID:24411943|PMID:25741868|PMID:25781672|PMID:27634015 12060992 IGF2 insulin like growth factor 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:2870 D RGD:9068941 20200609 RGD PMID:20683203|REF_RGD_ID:5509948 12060992 IGF2 insulin like growth factor 2 gene DOID:0050589 inflammatory bowel disease disease_progression ISO RGD:737149 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12548059|REF_RGD_ID:5509968 12060992 IGF2 insulin like growth factor 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12060992 IGF2 insulin like growth factor 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16092956 12060992 IGF2 insulin like growth factor 2 gene DOID:0080006 bone development disease ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9349812 12060992 IGF2 insulin like growth factor 2 gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:737149 D RGD:9068941 20200609 RGD PMID:19207313|REF_RGD_ID:12910858 12060992 IGF2 insulin like growth factor 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:737149 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12060992 IGF2 insulin like growth factor 2 gene DOID:0110741 type 1 diabetes mellitus 2 ISO RGD:10770 D RGD:9068941 20220825 MouseDO OMIM:125852 12060992 IGF2 insulin like growth factor 2 gene DOID:0111108 maturity-onset diabetes of the young type 10 ISO RGD:737149 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 10 PMID:20007936|PMID:24411943|PMID:25741868|PMID:25781672|PMID:27634015 12060992 IGF2 insulin like growth factor 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:737149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12060992 IGF2 insulin like growth factor 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12060992 IGF2 insulin like growth factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:10770 D RGD:9068941 20200609 RGD PMID:24887203|REF_RGD_ID:10045934 12060992 IGF2 insulin like growth factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:2870 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:16627931|REF_RGD_ID:5509963 12060992 IGF2 insulin like growth factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15750215 12060992 IGF2 insulin like growth factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:737149 D RGD:9068941 20200609 RGD PMID:24685003|REF_RGD_ID:10402559 12060992 IGF2 insulin like growth factor 2 gene DOID:10652 Alzheimer's disease treatment ISO RGD:10770 D RGD:9068941 20200609 RGD PMID:21040071|REF_RGD_ID:10402558 12060992 IGF2 insulin like growth factor 2 gene DOID:11476 osteoporosis treatment ISO RGD:2870 D RGD:9068941 20200609 RGD PMID:12162999|REF_RGD_ID:10402555 12060992 IGF2 insulin like growth factor 2 gene DOID:12217 Lewy body dementia ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 12060992 IGF2 insulin like growth factor 2 gene DOID:12217 Lewy body dementia ISO RGD:737149 D RGD:9068941 20200609 RGD mRNA:decreased expression:frontal cortex PMID:19276553|REF_RGD_ID:5129515 12060992 IGF2 insulin like growth factor 2 gene DOID:12849 autistic disorder ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17547689 12060992 IGF2 insulin like growth factor 2 gene DOID:14183 alcoholic neuropathy ISO RGD:2870 D RGD:9068941 20200609 RGD PMID:23016131|REF_RGD_ID:10402569 12060992 IGF2 insulin like growth factor 2 gene DOID:14330 Parkinson's disease ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 12060992 IGF2 insulin like growth factor 2 gene DOID:14330 Parkinson's disease ISO RGD:737149 D RGD:9068941 20200609 RGD mRNA:decreased expression:frontal cortex PMID:19276553|REF_RGD_ID:5129515 12060992 IGF2 insulin like growth factor 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:737149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12060992 IGF2 insulin like growth factor 2 gene DOID:14681 Silver-Russell syndrome ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19066168 12060992 IGF2 insulin like growth factor 2 gene DOID:1561 cognitive disorder ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21270887 12060992 IGF2 insulin like growth factor 2 gene DOID:1612 breast cancer ISO RGD:737149 D RGD:9068941 20200609 RGD PMID:18719053|REF_RGD_ID:2311512 12060992 IGF2 insulin like growth factor 2 gene DOID:1657 ventricular septal defect treatment ISO RGD:737149 D RGD:9068941 20200609 RGD PMID:21238444|REF_RGD_ID:13204804 12060992 IGF2 insulin like growth factor 2 gene DOID:1936 atherosclerosis ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11726660 12060992 IGF2 insulin like growth factor 2 gene DOID:2154 nephroblastoma ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8252039 12060992 IGF2 insulin like growth factor 2 gene DOID:2355 anemia ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12090760 12060992 IGF2 insulin like growth factor 2 gene DOID:2377 multiple sclerosis ISO RGD:737149 D RGD:9068941 20200609 RGD protein:increased expression:macrophage PMID:10417663|REF_RGD_ID:5510017 12060992 IGF2 insulin like growth factor 2 gene DOID:3247 rhabdomyosarcoma ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7981680 12060992 IGF2 insulin like growth factor 2 gene DOID:3454 brain infarction ISO RGD:2870 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:7770004|REF_RGD_ID:5509999 12060992 IGF2 insulin like growth factor 2 gene DOID:3594 choriocarcinoma disease_progression ISO RGD:737149 D RGD:9068941 20200609 RGD protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR PMID:17556377|REF_RGD_ID:2290454 12060992 IGF2 insulin like growth factor 2 gene DOID:3827 congenital diaphragmatic hernia treatment ISO RGD:2870 D RGD:9068941 20200609 RGD PMID:24352370|REF_RGD_ID:10402563 12060992 IGF2 insulin like growth factor 2 gene DOID:3948 adrenocortical carcinoma ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21521927|PMID:23417626 12060992 IGF2 insulin like growth factor 2 gene DOID:4752 multiple system atrophy severity ISO RGD:737149 D RGD:9068941 20200609 RGD PMID:20683839|REF_RGD_ID:5509960 12060992 IGF2 insulin like growth factor 2 gene DOID:5082 liver cirrhosis severity ISO RGD:737149 D RGD:9068941 20200609 RGD associated with non-alcoholic fatty liver disease;protein:decreased expression:plasma PMID:28650518|REF_RGD_ID:14401722 12060992 IGF2 insulin like growth factor 2 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:737149 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome PMID:25741868 12060992 IGF2 insulin like growth factor 2 gene DOID:630 genetic disease ISO RGD:737149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:28848601|PMID:29073591 12060992 IGF2 insulin like growth factor 2 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:737149 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:11232005|REF_RGD_ID:5509969 12060992 IGF2 insulin like growth factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:2870 D RGD:9068941 20200609 RGD PMID:17554210|REF_RGD_ID:2311523 12060992 IGF2 insulin like growth factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12532445|PMID:16092956 12060992 IGF2 insulin like growth factor 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737149 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:SNPs:intron, 3'utr:+2482A>C, +820A>G (human) PMID:16750516|REF_RGD_ID:14401723 12060992 IGF2 insulin like growth factor 2 gene DOID:687 hepatoblastoma ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23958494 12060992 IGF2 insulin like growth factor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:737149 D RGD:9068941 20200609 RGD DNA:loss of imprinting:synovial cell PMID:19556211|REF_RGD_ID:5510001 12060992 IGF2 insulin like growth factor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:737149 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:11247331|REF_RGD_ID:5510014 12060992 IGF2 insulin like growth factor 2 gene DOID:77 gastrointestinal system disease ISO RGD:737149 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:16477536|REF_RGD_ID:5509964 12060992 IGF2 insulin like growth factor 2 gene DOID:780 placenta disease ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12087403 12060992 IGF2 insulin like growth factor 2 gene DOID:8398 osteoarthritis ISO RGD:737149 D RGD:9068941 20200609 RGD mRNA:increased expression:cartilage PMID:22527881|REF_RGD_ID:10402552 12060992 IGF2 insulin like growth factor 2 gene DOID:8488 polyhydramnios ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9349812 12060992 IGF2 insulin like growth factor 2 gene DOID:8577 ulcerative colitis disease_progression ISO RGD:737149 D RGD:9068941 20200609 RGD PMID:16088202|REF_RGD_ID:5509966 12060992 IGF2 insulin like growth factor 2 gene DOID:9000310 Lung Injury ISO RGD:2870 D RGD:9068941 20200609 RGD PMID:9160836|REF_RGD_ID:5509974 12060992 IGF2 insulin like growth factor 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:2870 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:18421211|REF_RGD_ID:2292665 12060992 IGF2 insulin like growth factor 2 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:2870 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:11213353|REF_RGD_ID:5509971 12060992 IGF2 insulin like growth factor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:10770 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental; protein:increased expression:lung, bone, serum: PMID:21859454|REF_RGD_ID:5510000 12060992 IGF2 insulin like growth factor 2 gene DOID:9000998 Brain Injuries ISO RGD:2870 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:11123717|REF_RGD_ID:5509972 12060992 IGF2 insulin like growth factor 2 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:2870 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:18505416|REF_RGD_ID:5510002 12060992 IGF2 insulin like growth factor 2 gene DOID:9001586 Experimental Liver Neoplasms treatment ISO RGD:2870 D RGD:9068941 20200609 RGD PMID:22425635|REF_RGD_ID:10402567 12060992 IGF2 insulin like growth factor 2 gene DOID:9002163 Silver-Russell Syndrome 3 ISO RGD:737149 D RGD:7240710 20180130 OMIM 12060992 IGF2 insulin like growth factor 2 gene DOID:9002163 Silver-Russell Syndrome 3 ISO RGD:737149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 3 PMID:25741868|PMID:26154720|PMID:28848601|PMID:30152198|PMID:30400067 12060992 IGF2 insulin like growth factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2870 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; mRNA:decreased expression:neural tissue, liver: PMID:9336345|REF_RGD_ID:5510019 12060992 IGF2 insulin like growth factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2870 D RGD:9068941 20200609 RGD associates with Diabetes Mellitus; mRNA:decreased expression:brain: PMID:8764603|REF_RGD_ID:5510022 12060992 IGF2 insulin like growth factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737149 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; PMID:9336345|REF_RGD_ID:5510019 12060992 IGF2 insulin like growth factor 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2870 D RGD:9068941 20200609 RGD mRNA:altered expresssion:liver,placenta: PMID:1408464|REF_RGD_ID:14985247 12060992 IGF2 insulin like growth factor 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12087403|PMID:16040806 12060992 IGF2 insulin like growth factor 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15057734 12060992 IGF2 insulin like growth factor 2 gene DOID:9002955 Nerve Degeneration ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24667322 12060992 IGF2 insulin like growth factor 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12060992 IGF2 insulin like growth factor 2 gene DOID:9003676 Brain Hypoxia-Ischemia disease_progression ISO RGD:737149 D RGD:9068941 20200609 RGD PMID:16787587|REF_RGD_ID:5510005 12060992 IGF2 insulin like growth factor 2 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:737149 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:multiple PMID:16750516|REF_RGD_ID:14401723 12060992 IGF2 insulin like growth factor 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:737149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12060992 IGF2 insulin like growth factor 2 gene DOID:9004914 Postmenopausal Osteoporosis treatment ISO RGD:737149 D RGD:9068941 20200609 RGD PMID:16753016|REF_RGD_ID:10402556 12060992 IGF2 insulin like growth factor 2 gene DOID:9004994 Embryo Loss ISO RGD:2870 D RGD:9068941 20200609 RGD DNA:methylation: : PMID:18778817|REF_RGD_ID:5509951 12060992 IGF2 insulin like growth factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10770 D RGD:9068941 20200609 RGD DNA, mRNA:hypermethylation, decreased expression PMID:18724775|REF_RGD_ID:2311511 12060992 IGF2 insulin like growth factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10770 D RGD:9068941 20200609 RGD protein:increased expression:oviduct PMID:18676006|REF_RGD_ID:2311502 12060992 IGF2 insulin like growth factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2870 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:10686593|REF_RGD_ID:5509973 12060992 IGF2 insulin like growth factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2870 D RGD:9068941 20200609 RGD protein:increased expression:multiple PMID:17184497|REF_RGD_ID:2311513 12060992 IGF2 insulin like growth factor 2 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:737149 D RGD:9068941 20200609 RGD PMID:23364485|REF_RGD_ID:10402565 12060992 IGF2 insulin like growth factor 2 gene DOID:9005834 Ependymomas ISO RGD:737149 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebellum PMID:18478565|REF_RGD_ID:5509961 12060992 IGF2 insulin like growth factor 2 gene DOID:9006257 Growth Disorders ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9349812 12060992 IGF2 insulin like growth factor 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:2870 D RGD:9068941 20200609 RGD DNA:insertion PMID:18418699|REF_RGD_ID:2311520 12060992 IGF2 insulin like growth factor 2 gene DOID:9006925 Hepatic Echinococcosis ISO RGD:737149 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:12927688|REF_RGD_ID:5509967 12060992 IGF2 insulin like growth factor 2 gene DOID:9007070 Silver-Russell Syndrome 1 ISO RGD:737149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 1 12060992 IGF2 insulin like growth factor 2 gene DOID:9007188 Liver Neoplasms ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12127304 12060992 IGF2 insulin like growth factor 2 gene DOID:9008023 Memory Disorders ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21270887 12060992 IGF2 insulin like growth factor 2 gene DOID:9008023 Memory Disorders treatment ISO RGD:2870 D RGD:9068941 20200609 RGD PMID:24012657|REF_RGD_ID:10402554 12060992 IGF2 insulin like growth factor 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12637750 12060992 IGF2 insulin like growth factor 2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10370016 12060992 IGF2 insulin like growth factor 2 gene DOID:9256 colorectal cancer ISO RGD:737149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 12060992 IGF2 insulin like growth factor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:10770 D RGD:9068941 20200609 RGD PMID:10727441|REF_RGD_ID:5510004 12060992 IGF2 insulin like growth factor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2870 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:17476475|REF_RGD_ID:2311504 12060992 IGF2 insulin like growth factor 2 gene DOID:9471 meningitis ISO RGD:737149 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:7521338|REF_RGD_ID:5510023 12060992 IGF2 insulin like growth factor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:2870 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:thymus PMID:11307180|REF_RGD_ID:5510007 12060992 IGF2 insulin like growth factor 2 gene DOID:9970 obesity ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11528401 12060992 IGF2 insulin like growth factor 2 gene DOID:9993 hypoglycemia ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3185662 12061020 AMMECR1L AMMECR1 like gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1605931 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 12061020 AMMECR1L AMMECR1 like gene DOID:630 genetic disease ISO RGD:1605931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061052 EPS8L1 EPS8 like 1 gene DOID:630 genetic disease ISO RGD:1322450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061088 SBNO2 strawberry notch homolog 2 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1316240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 12061088 SBNO2 strawberry notch homolog 2 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1316240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 12061088 SBNO2 strawberry notch homolog 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:1316240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12061088 SBNO2 strawberry notch homolog 2 gene DOID:630 genetic disease ISO RGD:1316240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:0050157 cryptogenic organizing pneumonia ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:lung, lymphocyte (human) PMID:21144722|REF_RGD_ID:5131112 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1298224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:0050851 glomerulosclerosis ISO RGD:731571 D RGD:9068941 20200609 RGD associated with Hypertension PMID:23389459|REF_RGD_ID:7245475 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1298224 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:0080162 lupus nephritis treatment ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:22846145|REF_RGD_ID:7245541 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:0080162 lupus nephritis treatment ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:22674120|REF_RGD_ID:7245544 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20353583 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:0080745 polymyositis severity ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11055823|REF_RGD_ID:8661747 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:0080855 Parkinsonism treatment ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:21831964|REF_RGD_ID:7247422 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:10325 silicosis ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:11208652|REF_RGD_ID:5131150 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:10457 Legionnaires' disease ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:18838275|REF_RGD_ID:5131445 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:10591 pre-eclampsia ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:21505354|REF_RGD_ID:5131211 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:10652 Alzheimer's disease ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:20110607|REF_RGD_ID:13825249 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:10652 Alzheimer's disease ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid: PMID:21978728|REF_RGD_ID:13825268 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:1074 kidney failure severity ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Neoplasms, Plasma Cell PMID:9650354|REF_RGD_ID:7245537 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:11394 adult respiratory distress syndrome ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:19916860|REF_RGD_ID:5131423 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:11394 adult respiratory distress syndrome ISO RGD:731571 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:21512145|REF_RGD_ID:5131206 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:11394 adult respiratory distress syndrome severity ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:11159038|REF_RGD_ID:5131147 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:11446 sciatic neuropathy ISO RGD:621238 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglia (rat) PMID:11240015|REF_RGD_ID:5130963 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:11476 osteoporosis ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:17002564|REF_RGD_ID:1625350 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:11832 visual epilepsy ISO RGD:621238 D RGD:9068941 20200609 RGD PMID:23333565|REF_RGD_ID:7245573 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:1205 allergic disease ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:12849 autistic disorder ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16139734 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:731571 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21221075|REF_RGD_ID:7245511 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:13406 pulmonary sarcoidosis ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21508170|REF_RGD_ID:5131275 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:1380 endometrial cancer ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:8920779|REF_RGD_ID:5131439 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:14069 cerebral malaria ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:12228317|REF_RGD_ID:5131158 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:14330 Parkinson's disease ISO RGD:731571 D RGD:9068941 20200609 RGD mRNA:decreased expression:midbrain, dopaminergic neuron (mouse) PMID:19780901|REF_RGD_ID:5130931 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:1520 colon carcinoma ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:1655258|REF_RGD_ID:5131434 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:2316 brain ischemia ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:2394 ovarian cancer disease_progression ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19825522|REF_RGD_ID:2315115 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:289 endometriosis ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:21481092|REF_RGD_ID:5131251 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:289 endometriosis treatment ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:21741153|REF_RGD_ID:7247423 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:2921 glomerulonephritis ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:15841213|PMID:22449555|REF_RGD_ID:7245530|REF_RGD_ID:7245546 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:2921 glomerulonephritis treatment ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:23400706|REF_RGD_ID:7245540 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:2986 IgA glomerulonephritis ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16209246|REF_RGD_ID:6907414 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:2986 IgA glomerulonephritis treatment ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:9844059|REF_RGD_ID:6909132 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:3021 acute kidney failure ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Acute Lung Injury PMID:18074478|REF_RGD_ID:5128661 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:3021 acute kidney failure ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Shock, Septic;protein:increased expression:serum PMID:12500222|REF_RGD_ID:7245534 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:3021 acute kidney failure ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:12865254|REF_RGD_ID:7245532 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:sputum (human) PMID:21037022|REF_RGD_ID:5131154 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:399 tuberculosis ISO RGD:1298224 D RGD:9068941 20200609 RGD DNA:snp:3' utr:g.*215C>T rs3397 (human) PMID:20007930|REF_RGD_ID:5131209 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:4450 renal cell carcinoma ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:20566746|REF_RGD_ID:7245512 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:5082 liver cirrhosis ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20353583 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:5199 ureteral obstruction ISO RGD:621238 D RGD:9068941 20200609 RGD PMID:19541932|REF_RGD_ID:7245519 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:5199 ureteral obstruction ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:10564241|REF_RGD_ID:7245536 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:5327 retinal detachment ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:21402953|REF_RGD_ID:5131257 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:552 pneumonia ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:552 pneumonia ISO RGD:1298224 D RGD:9068941 20200609 RGD Idiopathic Pneumonia Syndrome PMID:18664626|REF_RGD_ID:5131448 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:552 pneumonia susceptibility ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung; DNA:snp:cds:p.M196R rs1061622 (human) PMID:20811626|REF_RGD_ID:5131286 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:5844 myocardial infarction ISO RGD:621238 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:left ventricle myocardium (rat) PMID:21362018|REF_RGD_ID:5130892 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:6000 congestive heart failure ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:21135513|REF_RGD_ID:5131262 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:630 genetic disease ISO RGD:1298224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:8548330|REF_RGD_ID:12904035 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:6543 acne susceptibility ISO RGD:1298224 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.M196R(human) PMID:20861605|REF_RGD_ID:8553023 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:7147 ankylosing spondylitis ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:21317434|REF_RGD_ID:5131280 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:783 end stage renal disease ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma PMID:22266663|REF_RGD_ID:7245510 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:841 extrinsic allergic alveolitis ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage (human) PMID:15929959|REF_RGD_ID:5131148 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:8541 Sezary's disease ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26258847 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:8691 mycosis fungoides ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26258847 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:874 bacterial pneumonia ISO RGD:731571 D RGD:9068941 20200609 RGD protein:increased expression:serum (mouse) PMID:19842848|REF_RGD_ID:5131429 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:8778 Crohn's disease ISO RGD:621238 D RGD:9068941 20200609 RGD protein:increased expression:large intestine mucosa (rat) PMID:21359923|REF_RGD_ID:5130893 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9000053 Headache ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:21036476|REF_RGD_ID:5131274 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9000169 Systemic Inflammatory Response Syndrome ISO RGD:621238 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:carotid body, jugular ganglion, nodose ganglion (rat) PMID:21195213|REF_RGD_ID:5130879 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9001472 Nasal Polyps ISO RGD:1298224 D RGD:9068941 20200609 RGD mRNA:decreased expression:nasal polyp (human) PMID:19095579|REF_RGD_ID:5131442 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9001553 Spinal Cord Compression ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:21224756|REF_RGD_ID:5130917 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9001553 Spinal Cord Compression ISO RGD:621238 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (rat) PMID:21224756|REF_RGD_ID:5130917 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9001579 Neurogenic Inflammation ISO RGD:621238 D RGD:9068941 20200609 RGD PMID:23333565|REF_RGD_ID:7245573 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9001916 Fetal Death ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Endotoxemia; human protein in rat model PMID:21187445|REF_RGD_ID:5131261 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9002165 Diabetic Nephropathies ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:serum PMID:19073786|REF_RGD_ID:2311357 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9002165 Diabetic Nephropathies ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum PMID:16408124|REF_RGD_ID:7245529 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9002165 Diabetic Nephropathies onset ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:22266664|REF_RGD_ID:7245476 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9002211 Hyperalgesia ISO RGD:621238 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:22652595|REF_RGD_ID:8661750 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9002211 Hyperalgesia ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:18463260|REF_RGD_ID:5130960 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9002457 Experimental Arthritis ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:21463515|REF_RGD_ID:5131255 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9002457 Experimental Arthritis treatment ISO RGD:621238 D RGD:9068941 20200609 RGD PMID:21690068|PMID:23052485|REF_RGD_ID:7245941|REF_RGD_ID:8661761 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9002589 Bone Fractures ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15071724 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis severity ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:serum, granulocyte PMID:19690440|REF_RGD_ID:7245518 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9004283 Transplant Rejection ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:19298452|REF_RGD_ID:7245520 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9004283 Transplant Rejection ISO RGD:621238 D RGD:9068941 20200609 RGD PMID:19298452|REF_RGD_ID:7245520 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9005372 Inflammation ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:21081778|REF_RGD_ID:5131265 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:21481476|REF_RGD_ID:5131250 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:21057386|REF_RGD_ID:5131270 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9006617 Fatigue ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12140350|REF_RGD_ID:8661748 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9007194 Sciatica treatment ISO RGD:621238 D RGD:9068941 20200609 RGD PMID:22425187|REF_RGD_ID:7245944 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9007271 Hypoalbuminemia ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15044820 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:621238 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15164724|REF_RGD_ID:1580295 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9008569 Bronchial Spasm ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid PMID:19340514|REF_RGD_ID:5131441 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:1298224 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.M196R (human) PMID:11607787|REF_RGD_ID:7245571 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8393677|REF_RGD_ID:7245539 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11882518 12061127 TNFRSF1B TNF receptor superfamily member 1B gene DOID:9970 obesity ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11782876 12061141 SETD4 SET domain containing 4 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1353006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12061141 SETD4 SET domain containing 4 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1353006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12061141 SETD4 SET domain containing 4 gene DOID:1588 thrombocytopenia ISO RGD:1353006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 12061141 SETD4 SET domain containing 4 gene DOID:630 genetic disease ISO RGD:1353006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061141 SETD4 SET domain containing 4 gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1353006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 12061141 SETD4 SET domain containing 4 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:1353006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy PMID:25741868|PMID:34355501 12061187 CEMIP cell migration inducing hyaluronidase 1 gene DOID:0050726 tyrosinemia type I ISO RGD:1313176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:28492532 12061187 CEMIP cell migration inducing hyaluronidase 1 gene DOID:2717 Bloom syndrome ISO RGD:1313176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12061187 CEMIP cell migration inducing hyaluronidase 1 gene DOID:630 genetic disease ISO RGD:1313176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061187 CEMIP cell migration inducing hyaluronidase 1 gene DOID:9256 colorectal cancer ISO RGD:1313176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12061229 RNF125 ring finger protein 125 gene DOID:1059 intellectual disability ISO RGD:1315557 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12061229 RNF125 ring finger protein 125 gene DOID:630 genetic disease ISO RGD:1315557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12061229 RNF125 ring finger protein 125 gene DOID:9000905 Tenorio Syndrome ISO RGD:1315557 D RGD:7240710 20180130 OMIM 12061229 RNF125 ring finger protein 125 gene DOID:9000905 Tenorio Syndrome ISO RGD:1315557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tenorio syndrome PMID:25196541|PMID:25741868|PMID:28492532|PMID:34196401 12061240 OTX2 orthodenticle homeobox 2 gene DOID:0050902 medulloblastoma ISO RGD:1313892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 12061240 OTX2 orthodenticle homeobox 2 gene DOID:0080636 syndromic microphthalmia ISO RGD:1313892 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Syndromic Microphthalmia, Dominant PMID:25741868|PMID:28492532 12061240 OTX2 orthodenticle homeobox 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1313892 D RGD:7240710 20180130 OMIM 12061240 OTX2 orthodenticle homeobox 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1313892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome | ClinVar Annotator: match by term: OTX2-Related Syndromic Microphthalmia | ClinVar Annotator: match by term: Syndromic microphthalmia type 5 PMID:15846561|PMID:16607563|PMID:17541950|PMID:18628516|PMID:18781617|PMID:19956411|PMID:19965921|PMID:20396904|PMID:20486942|PMID:22577225|PMID:22715480|PMID:24033328|PMID:24167467|PMID:24498598|PMID:25293953|PMID:25326635|PMID:25741868|PMID:27299576|PMID:28492532|PMID:28518168|PMID:30268123|PMID:32461654|PMID:32796691|PMID:33296094 12061240 OTX2 orthodenticle homeobox 2 gene DOID:10629 microphthalmia ISO RGD:1313892 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094 12061240 OTX2 orthodenticle homeobox 2 gene DOID:10907 microcephaly ISO RGD:1313892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:19965921|PMID:25741868|PMID:28492532 12061240 OTX2 orthodenticle homeobox 2 gene DOID:14791 Leber congenital amaurosis ISO RGD:1313892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868 12061240 OTX2 orthodenticle homeobox 2 gene DOID:630 genetic disease ISO RGD:1313892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15846561|PMID:16607563|PMID:28492532|PMID:28518168|PMID:32461654 12061240 OTX2 orthodenticle homeobox 2 gene DOID:8501 fundus dystrophy ISO RGD:1313892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17541950|PMID:28492532 12061240 OTX2 orthodenticle homeobox 2 gene DOID:9000066 Jaw Abnormalities ISO RGD:1313892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12183386 12061240 OTX2 orthodenticle homeobox 2 gene DOID:9002049 Anophthalmia ISO RGD:1313892 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Anophthalmia PMID:25741868|PMID:29178648 12061240 OTX2 orthodenticle homeobox 2 gene DOID:9002955 Nerve Degeneration ISO RGD:1313892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20573704 12061240 OTX2 orthodenticle homeobox 2 gene DOID:9005891 Combined Pituitary Hormone Deficiency, 6 ISO RGD:1313892 D RGD:7240710 20180130 OMIM 12061240 OTX2 orthodenticle homeobox 2 gene DOID:9005891 Combined Pituitary Hormone Deficiency, 6 ISO RGD:1313892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 6 PMID:17541950|PMID:18728160|PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094 12061240 OTX2 orthodenticle homeobox 2 gene DOID:9410 panhypopituitarism ISO RGD:1313892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12061268 SMG8 SMG8 nonsense mediated mRNA decay factor gene DOID:0050777 Joubert syndrome ISO RGD:1602698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12061268 SMG8 SMG8 nonsense mediated mRNA decay factor gene DOID:630 genetic disease ISO RGD:1602698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061268 SMG8 SMG8 nonsense mediated mRNA decay factor gene DOID:9005217 ALZAHRANI-KUWAHARA SYNDROME ISO RGD:1602698 D RGD:7240710 20210512 OMIM 12061268 SMG8 SMG8 nonsense mediated mRNA decay factor gene DOID:9005217 ALZAHRANI-KUWAHARA SYNDROME ISO RGD:1602698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzahrani-Kuwahara syndrome PMID:33242396 12061276 PDZD11 PDZ domain containing 11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12061276 PDZD11 PDZ domain containing 11 gene DOID:12849 autistic disorder ISO RGD:1350594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12061276 PDZD11 PDZ domain containing 11 gene DOID:1826 epilepsy ISO RGD:1350594 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12061291 THAP3 THAP domain containing 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1351040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12061291 THAP3 THAP domain containing 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1351040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12061291 THAP3 THAP domain containing 3 gene DOID:630 genetic disease ISO RGD:1351040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061291 THAP3 THAP domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12061302 SSMEM1 serine rich single-pass membrane protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12061302 SSMEM1 serine rich single-pass membrane protein 1 gene DOID:630 genetic disease ISO RGD:1604235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061310 DPEP2 dipeptidase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1313962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12061310 DPEP2 dipeptidase 2 gene DOID:630 genetic disease ISO RGD:1313962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061339 HTR3B 5-hydroxytryptamine receptor 3B gene DOID:0080000 muscular disease ISO RGD:730958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17600820 12061339 HTR3B 5-hydroxytryptamine receptor 3B gene DOID:1059 intellectual disability ISO RGD:730958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12061339 HTR3B 5-hydroxytryptamine receptor 3B gene DOID:1574 alcohol use disorder susceptibility ISO RGD:730958 D RGD:9068941 20200609 RGD DNA:SNP:cds:rs1176744(human) PMID:20838391|REF_RGD_ID:6480660 12061339 HTR3B 5-hydroxytryptamine receptor 3B gene DOID:1596 depressive disorder susceptibility ISO RGD:730958 D RGD:9068941 20200609 RGD PMID:16487942|REF_RGD_ID:6480662 12061339 HTR3B 5-hydroxytryptamine receptor 3B gene DOID:630 genetic disease ISO RGD:730958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061339 HTR3B 5-hydroxytryptamine receptor 3B gene DOID:9000641 Pain ISO RGD:730958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17600820 12061339 HTR3B 5-hydroxytryptamine receptor 3B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:730958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12061339 HTR3B 5-hydroxytryptamine receptor 3B gene DOID:9005632 Cocaine-Related Disorders susceptibility ISO RGD:730958 D RGD:9068941 20200609 RGD DNA:SNP:cds:rs1176744(human) PMID:20838391|REF_RGD_ID:6480660 12061352 ARFGAP1 ADP ribosylation factor GTPase activating protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1352175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12061352 ARFGAP1 ADP ribosylation factor GTPase activating protein 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1352175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12061352 ARFGAP1 ADP ribosylation factor GTPase activating protein 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1352175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12061352 ARFGAP1 ADP ribosylation factor GTPase activating protein 1 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1352175 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12061352 ARFGAP1 ADP ribosylation factor GTPase activating protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1352175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12061352 ARFGAP1 ADP ribosylation factor GTPase activating protein 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1352175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12061352 ARFGAP1 ADP ribosylation factor GTPase activating protein 1 gene DOID:1826 epilepsy ISO RGD:1352175 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12061352 ARFGAP1 ADP ribosylation factor GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1352175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061352 ARFGAP1 ADP ribosylation factor GTPase activating protein 1 gene DOID:863 nervous system disease ISO RGD:1352175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20805988 12061352 ARFGAP1 ADP ribosylation factor GTPase activating protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1352175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20805988 12061378 CCDC183 coiled-coil domain containing 183 gene DOID:0050777 Joubert syndrome ISO RGD:1350546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12061378 CCDC183 coiled-coil domain containing 183 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1350546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12061378 CCDC183 coiled-coil domain containing 183 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1350546 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12061378 CCDC183 coiled-coil domain containing 183 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1350546 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12061378 CCDC183 coiled-coil domain containing 183 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12061378 CCDC183 coiled-coil domain containing 183 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1350546 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12061378 CCDC183 coiled-coil domain containing 183 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1350546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12061378 CCDC183 coiled-coil domain containing 183 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1350546 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12061378 CCDC183 coiled-coil domain containing 183 gene DOID:0081097 Rafiq syndrome ISO RGD:1350546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12061378 CCDC183 coiled-coil domain containing 183 gene DOID:3652 Leigh disease ISO RGD:1350546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12061378 CCDC183 coiled-coil domain containing 183 gene DOID:4990 essential tremor ISO RGD:1350546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 12061378 CCDC183 coiled-coil domain containing 183 gene DOID:630 genetic disease ISO RGD:1350546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061378 CCDC183 coiled-coil domain containing 183 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1350546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12061395 ZNF165 zinc finger protein 165 gene DOID:11372 megacolon ISO RGD:1342847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12061395 ZNF165 zinc finger protein 165 gene DOID:630 genetic disease ISO RGD:1342847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061404 TDRD9 tudor domain containing 9 gene DOID:0080600 COVID-19 ISO RGD:1315843 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12061404 TDRD9 tudor domain containing 9 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1315843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12061404 TDRD9 tudor domain containing 9 gene DOID:0111913 spermatogenic failure 30 ISO RGD:1315843 D RGD:7240710 20190410 OMIM 12061404 TDRD9 tudor domain containing 9 gene DOID:0111913 spermatogenic failure 30 ISO RGD:1315843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 30 PMID:25741868 12061404 TDRD9 tudor domain containing 9 gene DOID:14227 azoospermia ISO RGD:1315843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 12061404 TDRD9 tudor domain containing 9 gene DOID:630 genetic disease ISO RGD:1315843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12061456 ZKSCAN8 zinc finger with KRAB and SCAN domains 8 gene DOID:11372 megacolon ISO RGD:1319074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12061456 ZKSCAN8 zinc finger with KRAB and SCAN domains 8 gene DOID:630 genetic disease ISO RGD:1319074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061471 CALHM5 calcium homeostasis modulator family member 5 gene DOID:0060163 body dysmorphic disorder ISO RGD:1321291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 12061471 CALHM5 calcium homeostasis modulator family member 5 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1321291 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12061471 CALHM5 calcium homeostasis modulator family member 5 gene DOID:1059 intellectual disability ISO RGD:1321291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 12061471 CALHM5 calcium homeostasis modulator family member 5 gene DOID:10907 microcephaly ISO RGD:1321291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 12061471 CALHM5 calcium homeostasis modulator family member 5 gene DOID:1826 epilepsy ISO RGD:1321291 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12061471 CALHM5 calcium homeostasis modulator family member 5 gene DOID:630 genetic disease ISO RGD:1321291 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061471 CALHM5 calcium homeostasis modulator family member 5 gene DOID:9000495 Tremor ISO RGD:1321291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12061507 C1QTNF1 C1q and TNF related 1 gene DOID:630 genetic disease ISO RGD:1350694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061507 C1QTNF1 C1q and TNF related 1 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1350694 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 12061532 CD24 CD24 molecule gene DOID:1793 pancreatic cancer ISO RGD:736340 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:28369074 12061532 CD24 CD24 molecule gene DOID:2377 multiple sclerosis ISO RGD:736340 D RGD:9068941 20210115 RGD PMID:14657362|REF_RGD_ID:1358462 12061532 CD24 CD24 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736340 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12061544 KLF16 KLF transcription factor 16 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1314308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12061544 KLF16 KLF transcription factor 16 gene DOID:5339 cyclic hematopoiesis ISO RGD:1314308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12061544 KLF16 KLF transcription factor 16 gene DOID:630 genetic disease ISO RGD:1314308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061544 KLF16 KLF transcription factor 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12061592 ZNF322 zinc finger protein 322 gene DOID:630 genetic disease ISO RGD:1347331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061606 ATP2B1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:10763 hypertension ISO RGD:621303 D RGD:9068941 20200609 RGD mRNA:increased expression:vascular associated smooth muscle cell PMID:20137670|REF_RGD_ID:2317726 12061606 ATP2B1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:10763 hypertension ISO RGD:732984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430479 12061606 ATP2B1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:11836 clubfoot ISO RGD:732984 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868 12061606 ATP2B1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:3393 coronary artery disease ISO RGD:732984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22751097 12061606 ATP2B1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:630 genetic disease ISO RGD:732984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061606 ATP2B1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:83 cataract ISO RGD:732984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15003327 12061606 ATP2B1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:9001141 Autosomal Dominant Intellectual Developmental Disorder 66 ISO RGD:732984 D RGD:7240710 20220629 OMIM 12061606 ATP2B1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:9001141 Autosomal Dominant Intellectual Developmental Disorder 66 ISO RGD:732984 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 66 PMID:25741868|PMID:35358416 12061606 ATP2B1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732984 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:35358416 12061647 ATP6V0E1 ATPase H+ transporting V0 subunit e1 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1350958 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 12061647 ATP6V0E1 ATPase H+ transporting V0 subunit e1 gene DOID:10652 Alzheimer's disease ISO RGD:1553358 D RGD:9068941 20200609 RGD PMID:23211594|REF_RGD_ID:10401913 12061647 ATP6V0E1 ATPase H+ transporting V0 subunit e1 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:1350958 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 12061655 RBM28 RNA binding motif protein 28 gene DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome ISO RGD:1322736 D RGD:7240710 20180130 OMIM 12061655 RBM28 RNA binding motif protein 28 gene DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome ISO RGD:1322736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANE syndrome PMID:18439547|PMID:25741868 12061655 RBM28 RNA binding motif protein 28 gene DOID:10907 microcephaly ISO RGD:1322736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12061655 RBM28 RNA binding motif protein 28 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12061655 RBM28 RNA binding motif protein 28 gene DOID:630 genetic disease ISO RGD:1322736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12061685 SNX13 sorting nexin 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12061685 SNX13 sorting nexin 13 gene DOID:630 genetic disease ISO RGD:1320299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061724 SMPDL3A sphingomyelin phosphodiesterase acid like 3A gene DOID:1826 epilepsy ISO RGD:1347939 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12061724 SMPDL3A sphingomyelin phosphodiesterase acid like 3A gene DOID:289 endometriosis ISO RGD:1347939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12061724 SMPDL3A sphingomyelin phosphodiesterase acid like 3A gene DOID:630 genetic disease ISO RGD:1347939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061740 GINS1 GINS complex subunit 1 gene DOID:0111993 immunodeficiency 55 ISO RGD:1605108 D RGD:7240710 20190315 OMIM 12061740 GINS1 GINS complex subunit 1 gene DOID:0111993 immunodeficiency 55 ISO RGD:1605108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to GINS1 deficiency PMID:25741868|PMID:28414293|PMID:28492532|PMID:31630891 12061740 GINS1 GINS complex subunit 1 gene DOID:630 genetic disease ISO RGD:1605108 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12061740 GINS1 GINS complex subunit 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1605108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12061763 ERGIC2 ERGIC and golgi 2 gene DOID:630 genetic disease ISO RGD:1605678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061781 NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1316424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 12061781 NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1316424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12061781 NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:0112086 nuclear type mitochondrial complex I deficiency 26 ISO RGD:1316424 D RGD:7240710 20190315 OMIM 12061781 NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:0112086 nuclear type mitochondrial complex I deficiency 26 ISO RGD:1316424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 PMID:22114105|PMID:25741868|PMID:28492532|PMID:28671271 12061781 NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:3652 Leigh disease ISO RGD:1316424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:28492532 12061781 NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:630 genetic disease ISO RGD:1316424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12061781 NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1316424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12061796 ZFAND4 zinc finger AN1-type containing 4 gene DOID:630 genetic disease ISO RGD:1347960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061816 PPP1R42 protein phosphatase 1 regulatory subunit 42 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1606658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:28492532 12061816 PPP1R42 protein phosphatase 1 regulatory subunit 42 gene DOID:630 genetic disease ISO RGD:1606658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061833 IGSF21 immunoglobin superfamily member 21 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602849 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12061833 IGSF21 immunoglobin superfamily member 21 gene DOID:11054 urinary bladder cancer ISO RGD:1602849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 12061833 IGSF21 immunoglobin superfamily member 21 gene DOID:630 genetic disease ISO RGD:1602849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061847 XIRP2 xin actin binding repeat containing 2 gene DOID:10348 blepharophimosis ISO RGD:1347436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis 12061847 XIRP2 xin actin binding repeat containing 2 gene DOID:630 genetic disease ISO RGD:1347436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12061865 PJVK pejvakin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1352291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587|PMID:32747562 12061865 PJVK pejvakin gene DOID:0090048 dystonia 16 ISO RGD:1352291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 16 PMID:24033266|PMID:28492532 12061865 PJVK pejvakin gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1352291 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:18948003|PMID:23975875|PMID:24395473|PMID:25589632|PMID:28492532|PMID:30557390 12061865 PJVK pejvakin gene DOID:0110511 autosomal recessive nonsyndromic deafness 59 ISO RGD:1352291 D RGD:7240710 20180130 OMIM 12061865 PJVK pejvakin gene DOID:0110511 autosomal recessive nonsyndromic deafness 59 ISO RGD:1352291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 59 PMID:16804542|PMID:17301963|PMID:17329413|PMID:17373699|PMID:17718865|PMID:21935370|PMID:23804846|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27344577|PMID:28492532|PMID:30303587|PMID:30311386|PMID:32747562|PMID:35052489 12061865 PJVK pejvakin gene DOID:543 dystonia ISO RGD:1352291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:24033266|PMID:28492532 12061865 PJVK pejvakin gene DOID:9004538 Hearing Loss ISO RGD:1352291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:28492532|PMID:30311386 12061865 PJVK pejvakin gene DOID:9008681 Deafness ISO RGD:1352291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587|PMID:32747562 12061878 ATF7IP2 activating transcription factor 7 interacting protein 2 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1314578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 12061878 ATF7IP2 activating transcription factor 7 interacting protein 2 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1314578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 12061878 ATF7IP2 activating transcription factor 7 interacting protein 2 gene DOID:5812 MHC class II deficiency ISO RGD:1314578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12061878 ATF7IP2 activating transcription factor 7 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1314578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061894 ZNF76 zinc finger protein 76 gene DOID:0050553 JMP syndrome ISO RGD:1314742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12061894 ZNF76 zinc finger protein 76 gene DOID:630 genetic disease ISO RGD:1314742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061922 TRIB1 tribbles pseudokinase 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1354037 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 12061922 TRIB1 tribbles pseudokinase 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1354037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12061922 TRIB1 tribbles pseudokinase 1 gene DOID:3393 coronary artery disease ISO RGD:1354037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097064 12061922 TRIB1 tribbles pseudokinase 1 gene DOID:630 genetic disease ISO RGD:1354037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061929 LUM lumican gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:1344357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 12061929 LUM lumican gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:734193 D RGD:9068941 20220825 MouseDO OMIM:130000 12061929 LUM lumican gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1344357 D RGD:9068941 20200609 RGD PMID:17671699|REF_RGD_ID:2317682 12061929 LUM lumican gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1344357 D RGD:9068941 20200609 RGD DNA:SNP: :rs2268578 (human) PMID:19843670|REF_RGD_ID:2317230 12061929 LUM lumican gene DOID:3393 coronary artery disease ISO RGD:1344357 D RGD:9068941 20200609 RGD PMID:11890723|REF_RGD_ID:1582121 12061929 LUM lumican gene DOID:3407 carotid artery disease ISO RGD:1344357 D RGD:9068941 20200609 RGD PMID:15970583|REF_RGD_ID:1582117 12061929 LUM lumican gene DOID:5082 liver cirrhosis ISO RGD:1344357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 12061929 LUM lumican gene DOID:5199 ureteral obstruction ISO RGD:620984 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:12787392|REF_RGD_ID:2317694 12061929 LUM lumican gene DOID:630 genetic disease ISO RGD:1344357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061929 LUM lumican gene DOID:799 varicose veins ISO RGD:1344357 D RGD:9068941 20200609 RGD PMID:15871312|REF_RGD_ID:1582120 12061929 LUM lumican gene DOID:9000039 Spinal Cord Injuries ISO RGD:620984 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:18482974|REF_RGD_ID:2317692 12061929 LUM lumican gene DOID:9000784 Fibrosis ISO RGD:620984 D RGD:9068941 20200609 RGD associated with Pancreatitis;mRNA, protein:increased expression, altered localization:pancreas PMID:12645630|REF_RGD_ID:724427 12061929 LUM lumican gene DOID:9000784 Fibrosis ISO RGD:620984 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:1385211|REF_RGD_ID:2317695 12061929 LUM lumican gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12061929 LUM lumican gene DOID:9001600 Wounds and Injuries ISO RGD:1344357 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24367547 12061929 LUM lumican gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620984 D RGD:9068941 20200609 RGD PMID:11348051|REF_RGD_ID:1582122 12061936 OR2F1D olfactory receptor family 2 subfamily F member 1D gene DOID:630 genetic disease ISO RGD:1349873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061939 CAPN1 calpain 1 gene DOID:0081292 traumatic brain injury ISO RGD:2267 D RGD:9068941 20200609 RGD protein:increased expression:cytosol, plasma membrane PMID:9469158|REF_RGD_ID:13792664 12061939 CAPN1 calpain 1 gene DOID:0110821 hereditary spastic paraplegia 76 ISO RGD:736980 D RGD:7240710 20190315 OMIM 12061939 CAPN1 calpain 1 gene DOID:0110821 hereditary spastic paraplegia 76 ISO RGD:736980 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 76 PMID:17576681|PMID:25741868|PMID:27153400|PMID:27320912|PMID:28492532|PMID:28566166|PMID:29379883|PMID:30198554|PMID:32214227|PMID:32860008|PMID:33486633|PMID:9536098 12061939 CAPN1 calpain 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:736980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12061939 CAPN1 calpain 1 gene DOID:10230 aortic atherosclerosis ISO RGD:2267 D RGD:9068941 20200609 RGD protein:increased activity:aorta PMID:23006733|REF_RGD_ID:13792498 12061939 CAPN1 calpain 1 gene DOID:1059 intellectual disability ISO RGD:736980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12061939 CAPN1 calpain 1 gene DOID:10652 Alzheimer's disease ISO RGD:736980 D RGD:9068941 20200609 RGD protein:increased activity:brain: PMID:11231011|REF_RGD_ID:13792663 12061939 CAPN1 calpain 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:736980 D RGD:9068941 20200609 RGD PMID:8622780|REF_RGD_ID:13792495 12061939 CAPN1 calpain 1 gene DOID:11446 sciatic neuropathy ISO RGD:2267 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle tissue of tibialis anterior PMID:24745757|REF_RGD_ID:13792589 12061939 CAPN1 calpain 1 gene DOID:1210 optic neuritis ISO RGD:736980 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23860028 12061939 CAPN1 calpain 1 gene DOID:14566 disease of cellular proliferation ISO RGD:736980 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19266085 12061939 CAPN1 calpain 1 gene DOID:1826 epilepsy treatment ISO RGD:2267 D RGD:9068941 20200609 RGD PMID:25924429|REF_RGD_ID:13792591 12061939 CAPN1 calpain 1 gene DOID:1909 melanoma ISO RGD:736980 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12061939 CAPN1 calpain 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12061939 CAPN1 calpain 1 gene DOID:2746 glycogen storage disease V ISO RGD:736980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12061939 CAPN1 calpain 1 gene DOID:3021 acute kidney failure treatment ISO RGD:2267 D RGD:9068941 20200609 RGD associated with Rhabdomyolysis; PMID:24158126|REF_RGD_ID:13792553 12061939 CAPN1 calpain 1 gene DOID:3070 high grade glioma ISO RGD:736980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12061939 CAPN1 calpain 1 gene DOID:630 genetic disease ISO RGD:736980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12061939 CAPN1 calpain 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2267 D RGD:9068941 20200609 RGD PMID:23102374|REF_RGD_ID:13792496 12061939 CAPN1 calpain 1 gene DOID:9002121 Spinocerebellar Ataxias IAGP D RGD:12801476 20210603 OMIA Ataxia, spinocerebellar, CAPN1-related PMID:4747697|PMID:2061870|PMID:15320590|PMID:23741357|PMID:22634896|PMID:22872628|PMID:24736825|PMID:24736826|PMID:27320912|PMID:27259058|PMID:27153400|PMID:30650096 12061939 CAPN1 calpain 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:736980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12061939 CAPN1 calpain 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:736980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12061965 SIRT6 sirtuin 6 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:1305216 D RGD:9068941 20200609 RGD PMID:21373642|REF_RGD_ID:6484527 12061965 SIRT6 sirtuin 6 gene DOID:10763 hypertension exacerbates ISO RGD:1313111 D RGD:9068941 20221006 RGD PMID:30894089|REF_RGD_ID:155260334 12061965 SIRT6 sirtuin 6 gene DOID:12932 endomyocardial fibrosis ISO RGD:1313110 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:34713381 12061965 SIRT6 sirtuin 6 gene DOID:13938 amenorrhea ISO RGD:1313110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12061965 SIRT6 sirtuin 6 gene DOID:224 transient cerebral ischemia ISO RGD:1305216 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain PMID:23899523|REF_RGD_ID:9586062 12061965 SIRT6 sirtuin 6 gene DOID:2843 long QT syndrome ISO RGD:1313110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12061965 SIRT6 sirtuin 6 gene DOID:3911 progeria ISO RGD:1313111 D RGD:9068941 20220825 MouseDO OMIM:176670 12061965 SIRT6 sirtuin 6 gene DOID:5426 primary ovarian insufficiency ISO RGD:1313110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12061965 SIRT6 sirtuin 6 gene DOID:630 genetic disease ISO RGD:1313110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061965 SIRT6 sirtuin 6 gene DOID:9000784 Fibrosis ISO RGD:1313110 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:35798905 12061965 SIRT6 sirtuin 6 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1313110 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:34713381 12061965 SIRT6 sirtuin 6 gene DOID:9002371 Cardiotoxicity ISO RGD:1313110 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:34713381 12061965 SIRT6 sirtuin 6 gene DOID:9003234 Hypertensive Nephropathy ISO RGD:1313110 D RGD:9068941 20221006 RGD protein:decreased expression:kidney PMID:30894089|REF_RGD_ID:155260334 12061965 SIRT6 sirtuin 6 gene DOID:9003936 Cardiomegaly ISO RGD:1305216 D RGD:9068941 20200609 RGD PMID:22335191|REF_RGD_ID:9586060 12061965 SIRT6 sirtuin 6 gene DOID:9003936 Cardiomegaly ISO RGD:1313110 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:22335191|PMID:35798905 12061965 SIRT6 sirtuin 6 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1313110 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:35798905 12061965 SIRT6 sirtuin 6 gene DOID:9007174 Ventricular Remodeling ISO RGD:1313110 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:34713381 12061965 SIRT6 sirtuin 6 gene DOID:9452 fatty liver disease ISO RGD:1313110 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28536482 12061965 SIRT6 sirtuin 6 gene DOID:9970 obesity ISO RGD:1305216 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:24135502|REF_RGD_ID:9586064 12061996 NTSR1 neurotensin receptor 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12061996 NTSR1 neurotensin receptor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1314483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 12061996 NTSR1 neurotensin receptor 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1314483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12061996 NTSR1 neurotensin receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1314483 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12061996 NTSR1 neurotensin receptor 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12061996 NTSR1 neurotensin receptor 1 gene DOID:14330 Parkinson's disease ISO RGD:1314483 D RGD:9068941 20200609 RGD PMID:7700529|REF_RGD_ID:9743906 12061996 NTSR1 neurotensin receptor 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1314483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12061996 NTSR1 neurotensin receptor 1 gene DOID:1826 epilepsy ISO RGD:1314483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 12061996 NTSR1 neurotensin receptor 1 gene DOID:5419 schizophrenia ISO RGD:1314483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20659557 12061996 NTSR1 neurotensin receptor 1 gene DOID:5419 schizophrenia ISO RGD:1314483 D RGD:9068941 20200806 RGD DNA:repeat:enhancer: 12061996 NTSR1 neurotensin receptor 1 gene DOID:630 genetic disease ISO RGD:1314483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12061996 NTSR1 neurotensin receptor 1 gene DOID:9000641 Pain ISO RGD:1314483 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20727387 12061996 NTSR1 neurotensin receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:1306076 D RGD:9068941 20200609 RGD PMID:22396077|REF_RGD_ID:9743902 12062004 NRIP2 nuclear receptor interacting protein 2 gene DOID:630 genetic disease ISO RGD:1350542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062004 NRIP2 nuclear receptor interacting protein 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1350542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12062014 WDR76 WD repeat domain 76 gene DOID:2717 Bloom syndrome ISO RGD:1605336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12062014 WDR76 WD repeat domain 76 gene DOID:630 genetic disease ISO RGD:1605336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062014 WDR76 WD repeat domain 76 gene DOID:684 hepatocellular carcinoma ISO RGD:1605336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12062014 WDR76 WD repeat domain 76 gene DOID:9256 colorectal cancer ISO RGD:1605336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:0060041 autism spectrum disorder ISO RGD:1352372 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:20967760|REF_RGD_ID:5509622 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:0111579 asthma, nasal polyps, and aspirin intolerance ISO RGD:1352372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance PMID:17959182|PMID:21558275|PMID:30643255 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:10652 Alzheimer's disease ISO RGD:1352372 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:15111312|REF_RGD_ID:5509620 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:10652 Alzheimer's disease ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:20570249|REF_RGD_ID:5509595 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:10763 hypertension ISO RGD:1352372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22467300 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:1936 atherosclerosis ISO RGD:1352372 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16303615 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:1936 atherosclerosis ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:18206890|REF_RGD_ID:5509610 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:2316 brain ischemia ISO RGD:70493 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:20167207|REF_RGD_ID:5509598 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:2841 asthma ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:18692885|REF_RGD_ID:5509784 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:2841 asthma ISO RGD:733626 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19628725|REF_RGD_ID:5509605 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:2921 glomerulonephritis ISO RGD:70493 D RGD:9068941 20200609 RGD PMID:7967345|REF_RGD_ID:5128564 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:6000 congestive heart failure ISO RGD:70493 D RGD:9068941 20200609 RGD associated with Myocardial Infarction; mRNA:increased expression:heart left ventricle, septum PMID:16497176|REF_RGD_ID:1642301 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:6000 congestive heart failure ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:19546247|REF_RGD_ID:5509627 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:630 genetic disease ISO RGD:1352372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:8283 peritonitis ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:18941242|REF_RGD_ID:5509607 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:9000117 Esophageal Neoplasms ISO RGD:1352372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11406566 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:9001472 Nasal Polyps ISO RGD:1352372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30643255 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:9001472 Nasal Polyps ISO RGD:1352372 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:20554417|REF_RGD_ID:5509597 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:9001600 Wounds and Injuries ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:15708862|REF_RGD_ID:5509615 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:9002457 Experimental Arthritis ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:19675173|REF_RGD_ID:5509599 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:15328042|REF_RGD_ID:5509618 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:9004009 Reperfusion Injury ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:18635843|REF_RGD_ID:5509608 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:9004610 Acute Lung Injury ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:19752233|REF_RGD_ID:5509626 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:9005372 Inflammation ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:19787041|REF_RGD_ID:5509625 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:9005372 Inflammation ISO RGD:733626 D RGD:9068941 20200609 RGD associated with Wounds and Injuries PMID:17384141|REF_RGD_ID:5509613 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:9007692 Insulin Resistance ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:19787041|REF_RGD_ID:5509625 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:9743 diabetic neuropathy ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:20724598|REF_RGD_ID:5509623 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:9744 type 1 diabetes mellitus ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:17940120|REF_RGD_ID:5509611 12062036 ALOX15 arachidonate 15-lipoxygenase gene DOID:9775 diastolic heart failure ISO RGD:1352372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12062054 ITPKB inositol-trisphosphate 3-kinase B gene DOID:1540 parathyroid carcinoma ISO RGD:1345915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12062054 ITPKB inositol-trisphosphate 3-kinase B gene DOID:2226 myeloproliferative neoplasm ISO RGD:1345915 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable PMID:35101336 12062054 ITPKB inositol-trisphosphate 3-kinase B gene DOID:630 genetic disease ISO RGD:1345915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062054 ITPKB inositol-trisphosphate 3-kinase B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12062066 DCAF5 DDB1 and CUL4 associated factor 5 gene DOID:630 genetic disease ISO RGD:1315207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062085 GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12062085 GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 gene DOID:12849 autistic disorder ISO RGD:732437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12062085 GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 gene DOID:2377 multiple sclerosis ISO RGD:732437 D RGD:9068941 20200609 RGD DNA:repeat::(CA)11-16 (human) PMID:9561979|REF_RGD_ID:1358628 12062085 GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 gene DOID:3312 bipolar disorder ISO RGD:732437 D RGD:9068941 20200609 RGD PMID:11840313|REF_RGD_ID:1358391 12062085 GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 gene DOID:630 genetic disease ISO RGD:732437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:27572814|PMID:29053855 12062085 GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 gene DOID:9005494 X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features ISO RGD:732437 D RGD:7240710 20221130 OMIM 12062085 GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 gene DOID:9005494 X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features ISO RGD:732437 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features PMID:27572814|PMID:29053855 12062102 SPATA17 spermatogenesis associated 17 gene DOID:0050439 Usher syndrome ISO RGD:1604999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 12062102 SPATA17 spermatogenesis associated 17 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1604999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12062102 SPATA17 spermatogenesis associated 17 gene DOID:1540 parathyroid carcinoma ISO RGD:1604999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12062102 SPATA17 spermatogenesis associated 17 gene DOID:630 genetic disease ISO RGD:1604999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062102 SPATA17 spermatogenesis associated 17 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12062123 TXNDC12 thioredoxin domain containing 12 gene DOID:630 genetic disease ISO RGD:1606291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062134 RAB26 RAB26, member RAS oncogene family gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736116 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 12062134 RAB26 RAB26, member RAS oncogene family gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 12062134 RAB26 RAB26, member RAS oncogene family gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12062134 RAB26 RAB26, member RAS oncogene family gene DOID:1826 epilepsy ISO RGD:736116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12062134 RAB26 RAB26, member RAS oncogene family gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12062134 RAB26 RAB26, member RAS oncogene family gene DOID:2871 endometrial carcinoma ISO RGD:736116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 12062134 RAB26 RAB26, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:736116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062134 RAB26 RAB26, member RAS oncogene family gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12062157 E2F4 E2F transcription factor 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1323111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12062157 E2F4 E2F transcription factor 4 gene DOID:10754 otitis media ISO RGD:1323112 D RGD:9068941 20220825 MouseDO OMIM:166760 12062157 E2F4 E2F transcription factor 4 gene DOID:3883 Lynch syndrome ISO RGD:1323111 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 12062157 E2F4 E2F transcription factor 4 gene DOID:630 genetic disease ISO RGD:1323111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062157 E2F4 E2F transcription factor 4 gene DOID:9000918 Disease Progression ISO RGD:1323111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 12062171 VSTM1 V-set and transmembrane domain containing 1 gene DOID:630 genetic disease ISO RGD:1604181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062185 CCND2 cyclin D2 gene DOID:0050912 colon adenoma severity ISO RGD:730903 D RGD:9068941 20220311 RGD PMID:11375949|REF_RGD_ID:151665121 12062185 CCND2 cyclin D2 gene DOID:0050989 episodic ataxia type 1 ISO RGD:730903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 12062185 CCND2 cyclin D2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:730903 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter, breast PMID:14601057|REF_RGD_ID:2289156 12062185 CCND2 cyclin D2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:730903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12062185 CCND2 cyclin D2 gene DOID:0080924 bilateral perisylvian polymicrogyria ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29642246 12062185 CCND2 cyclin D2 gene DOID:10283 prostate cancer ISO RGD:730903 D RGD:9068941 20200609 RGD DNA, mRNA:hyperymethylation, decreased expression:promoter, prostate gland PMID:17016690|REF_RGD_ID:2289151 12062185 CCND2 cyclin D2 gene DOID:10283 prostate cancer disease_progression ISO RGD:736624 D RGD:9068941 20220317 RGD PMID:16322291|REF_RGD_ID:151665170 12062185 CCND2 cyclin D2 gene DOID:10534 stomach cancer ISO RGD:730903 D RGD:9068941 20220310 RGD protein:increased expression:stomach PMID:11552926|REF_RGD_ID:151665103 12062185 CCND2 cyclin D2 gene DOID:10534 stomach cancer disease_progression ISO RGD:730903 D RGD:9068941 20220310 RGD PMID:25960238|REF_RGD_ID:151665106 12062185 CCND2 cyclin D2 gene DOID:10534 stomach cancer severity ISO RGD:730903 D RGD:9068941 20220310 RGD PMID:10666388|REF_RGD_ID:151665101 12062185 CCND2 cyclin D2 gene DOID:10908 hydrocephalus ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29642246 12062185 CCND2 cyclin D2 gene DOID:10952 nephritis ISO RGD:621083 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney cortex PMID:15654821|REF_RGD_ID:2289180 12062185 CCND2 cyclin D2 gene DOID:1591 renovascular hypertension ISO RGD:621083 D RGD:9068941 20220310 RGD protein:increased expression:left ventricle: PMID:26300251|REF_RGD_ID:151664604 12062185 CCND2 cyclin D2 gene DOID:1612 breast cancer disease_progression ISO RGD:730903 D RGD:9068941 20220310 RGD PMID:30308939|REF_RGD_ID:151665105 12062185 CCND2 cyclin D2 gene DOID:1686 glaucoma ISO RGD:621083 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:18055803|REF_RGD_ID:2289160 12062185 CCND2 cyclin D2 gene DOID:1826 epilepsy ISO RGD:730903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:24705253|PMID:25741868|PMID:28492532|PMID:31056854|PMID:33818783 12062185 CCND2 cyclin D2 gene DOID:1875 impotence ISO RGD:621083 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:penis PMID:18068478|REF_RGD_ID:2289159 12062185 CCND2 cyclin D2 gene DOID:2043 hepatitis B ISO RGD:730903 D RGD:9068941 20220310 RGD mRNA:decreased expression:Peripheral Blood Mononuclear Cell PMID:33320844|REF_RGD_ID:151664743 12062185 CCND2 cyclin D2 gene DOID:2043 hepatitis B disease_progression ISO RGD:730903 D RGD:9068941 20220310 RGD DNA:SNP, haplotype:exon :rs1049606(human) PMID:20414251|REF_RGD_ID:151664744 12062185 CCND2 cyclin D2 gene DOID:2154 nephroblastoma ISO RGD:730903 D RGD:9068941 20200609 RGD PMID:15797629|REF_RGD_ID:2289153 12062185 CCND2 cyclin D2 gene DOID:219 colon cancer ISO RGD:621083 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:15059925|REF_RGD_ID:2289181 12062185 CCND2 cyclin D2 gene DOID:2671 transitional cell carcinoma ISO RGD:621083 D RGD:9068941 20200609 RGD DNA:hypermethylation:urinary bladder, urine PMID:17017434|REF_RGD_ID:2289150 12062185 CCND2 cyclin D2 gene DOID:2671 transitional cell carcinoma ISO RGD:730903 D RGD:9068941 20200609 RGD DNA:hypermethylation:urinary bladder, urine PMID:17017434|REF_RGD_ID:2289150 12062185 CCND2 cyclin D2 gene DOID:2671 transitional cell carcinoma ISO RGD:730904 D RGD:9068941 20200609 RGD DNA:hypermethylation:urinary bladder, urine PMID:17017434|REF_RGD_ID:2289150 12062185 CCND2 cyclin D2 gene DOID:2999 granulosa cell tumor ISO RGD:730903 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:11994539|REF_RGD_ID:2289157 12062185 CCND2 cyclin D2 gene DOID:3304 germinoma ISO RGD:730903 D RGD:9068941 20200609 RGD PMID:17167184|REF_RGD_ID:2296039 12062185 CCND2 cyclin D2 gene DOID:3457 invasive lobular carcinoma ISO RGD:730903 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter, breast PMID:14601057|REF_RGD_ID:2289156 12062185 CCND2 cyclin D2 gene DOID:3571 liver cancer disease_progression ISO RGD:730903 D RGD:9068941 20220310 RGD PMID:30308939|REF_RGD_ID:151665105 12062185 CCND2 cyclin D2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:730903 D RGD:9068941 20220310 RGD DNA:hypermethylation:promoter PMID:30308939|REF_RGD_ID:151665105 12062185 CCND2 cyclin D2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730903 D RGD:9068941 20220310 RGD mRNA:increased expression:lung PMID:31253987|REF_RGD_ID:151665100 12062185 CCND2 cyclin D2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730903 D RGD:9068941 20220310 RGD protein:increased expression:lung PMID:30227870|REF_RGD_ID:151665108 12062185 CCND2 cyclin D2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:730903 D RGD:9068941 20220310 RGD PMID:30308939|REF_RGD_ID:151665105 12062185 CCND2 cyclin D2 gene DOID:4440 seminoma ISO RGD:730903 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:testis PMID:15747581|REF_RGD_ID:2289154 12062185 CCND2 cyclin D2 gene DOID:5082 liver cirrhosis ISO RGD:730903 D RGD:9068941 20220310 RGD associated with hepatitis B;mRNA:decreased expression:Peripheral Blood Mononuclear Cell PMID:33320844|REF_RGD_ID:151664743 12062185 CCND2 cyclin D2 gene DOID:5517 stomach carcinoma disease_progression ISO RGD:730903 D RGD:9068941 20220324 RGD PMID:14612939|PMID:9778110|REF_RGD_ID:151665142|REF_RGD_ID:151665349 12062185 CCND2 cyclin D2 gene DOID:5517 stomach carcinoma severity ISO RGD:730903 D RGD:9068941 20220311 RGD PMID:14612939|REF_RGD_ID:151665142 12062185 CCND2 cyclin D2 gene DOID:630 genetic disease ISO RGD:730903 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17486076|PMID:24705253|PMID:25741868|PMID:26795593 12062185 CCND2 cyclin D2 gene DOID:684 hepatocellular carcinoma ISO RGD:730903 D RGD:9068941 20220310 RGD DNA:hypermethylation:CpG site PMID:31059558|REF_RGD_ID:151665109 12062185 CCND2 cyclin D2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730903 D RGD:9068941 20220310 RGD associated with hepatitis B PMID:33320844|REF_RGD_ID:151664743 12062185 CCND2 cyclin D2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:730903 D RGD:9068941 20220310 RGD associated with hepatitis B PMID:33320844|REF_RGD_ID:151664743 12062185 CCND2 cyclin D2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:730903 D RGD:9068941 20220317 RGD associated with Chronic Hepatitis C;DNA:SNP: :rs1049606(human) PMID:22004425|REF_RGD_ID:151665169 12062185 CCND2 cyclin D2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:730903 D RGD:9068941 20220310 RGD associated with colorectal cancer;protein:increased expression:colorectum PMID:19508551|REF_RGD_ID:151665111 12062185 CCND2 cyclin D2 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:730903 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:testis PMID:11358847|REF_RGD_ID:2296041 12062185 CCND2 cyclin D2 gene DOID:9000784 Fibrosis ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16306446 12062185 CCND2 cyclin D2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730903 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA:hypermethylated:brain PMID:15131050|REF_RGD_ID:2289155 12062185 CCND2 cyclin D2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17016690 12062185 CCND2 cyclin D2 gene DOID:9002403 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24705253|PMID:29642246 12062185 CCND2 cyclin D2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17270028 12062185 CCND2 cyclin D2 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:730903 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17270028|REF_RGD_ID:2296038 12062185 CCND2 cyclin D2 gene DOID:9002928 Colonic Neoplasms ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12062185 CCND2 cyclin D2 gene DOID:9003041 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 ISO RGD:730903 D RGD:7240710 20180130 OMIM 12062185 CCND2 cyclin D2 gene DOID:9003041 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 ISO RGD:730903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 PMID:17486076|PMID:24705253|PMID:25741868|PMID:26795593|PMID:28492532|PMID:31056854|PMID:33818783 12062185 CCND2 cyclin D2 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29642246 12062185 CCND2 cyclin D2 gene DOID:9003816 Macrocephaly ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29642246 12062185 CCND2 cyclin D2 gene DOID:9003936 Cardiomegaly ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15576649 12062185 CCND2 cyclin D2 gene DOID:9004017 Chronic Hepatitis C ISO RGD:730903 D RGD:9068941 20200626 RGD mRNA:increased expression:CD19+Bcell: PMID:20189883|REF_RGD_ID:32716380 12062185 CCND2 cyclin D2 gene DOID:9004207 Testicular Neoplasms ISO RGD:730903 D RGD:9068941 20200609 RGD mRNA:increased expression:testis PMID:15800920|REF_RGD_ID:2289152 12062185 CCND2 cyclin D2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:621083 D RGD:9068941 20220310 RGD protein:increased expression:left ventricle: PMID:26300251|REF_RGD_ID:151664604 12062185 CCND2 cyclin D2 gene DOID:9006618 Liver Metastasis ISO RGD:730903 D RGD:9068941 20220310 RGD associated with colorectal cancer;protein:increased expression:colorectum PMID:19508551|REF_RGD_ID:151665111 12062185 CCND2 cyclin D2 gene DOID:9007102 Myocardial Ischemia ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12062185 CCND2 cyclin D2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:730903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12062185 CCND2 cyclin D2 gene DOID:9008114 Helicobacter Infections ISO RGD:730903 D RGD:9068941 20220311 RGD mRNA:increased expression:stomach: PMID:12133540|REF_RGD_ID:151665119 12062185 CCND2 cyclin D2 gene DOID:9008114 Helicobacter Infections treatment ISO RGD:730903 D RGD:9068941 20220310 RGD associated with Gastrointestinal Neoplasms or gastritis PMID:11552926|REF_RGD_ID:151665103 12062185 CCND2 cyclin D2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 12062185 CCND2 cyclin D2 gene DOID:9008939 Breast Neoplasms ISO RGD:730903 D RGD:9068941 20200609 RGD DNA, mRNA, protein:hypermethylation, decreased expression:promoter, breast PMID:11289162|REF_RGD_ID:2289158 12062185 CCND2 cyclin D2 gene DOID:9008939 Breast Neoplasms ISO RGD:730903 D RGD:9068941 20200609 RGD DNA:hypermethylation:breast PMID:17549626|REF_RGD_ID:2289149 12062185 CCND2 cyclin D2 gene DOID:9119 acute myeloid leukemia ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27798625 12062185 CCND2 cyclin D2 gene DOID:9256 colorectal cancer ISO RGD:730903 D RGD:9068941 20220310 RGD mRNA, protein:increased expression:colorectum PMID:28933597|PMID:31511084|REF_RGD_ID:151664740|REF_RGD_ID:151664741 12062185 CCND2 cyclin D2 gene DOID:9256 colorectal cancer severity ISO RGD:730903 D RGD:9068941 20220310 RGD PMID:19508551|REF_RGD_ID:151665111 12062185 CCND2 cyclin D2 gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:730903 D RGD:9068941 20220324 RGD PMID:20473882|REF_RGD_ID:151665334 12062185 CCND2 cyclin D2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24464100 12062185 CCND2 cyclin D2 gene DOID:9538 multiple myeloma ISO RGD:730903 D RGD:9068941 20200609 RGD PMID:15755896|REF_RGD_ID:1581171 12062194 MTDH metadherin gene DOID:630 genetic disease ISO RGD:735692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062194 MTDH metadherin gene DOID:684 hepatocellular carcinoma treatment ISO RGD:735692 D RGD:9068941 20210528 RGD human cells in a mouse model PMID:26351209|REF_RGD_ID:11096879 12062194 MTDH metadherin gene DOID:9000965 Neoplasm Metastasis ISO RGD:735692 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19111877 12062194 MTDH metadherin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29315995 12062194 MTDH metadherin gene DOID:9008443 Colorectal Neoplasms ISO RGD:735692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29315995 12062194 MTDH metadherin gene DOID:9008939 Breast Neoplasms ISO RGD:735692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19111877 12062219 TMEM177 transmembrane protein 177 gene DOID:630 genetic disease ISO RGD:1606772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062225 IL37 interleukin 37 gene DOID:0050589 inflammatory bowel disease ISO RGD:1346334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:33674380 12062225 IL37 interleukin 37 gene DOID:12662 paracoccidioidomycosis treatment ISO RGD:1346334 D RGD:9068941 20201015 RGD PMID:28992214|REF_RGD_ID:39938858 12062225 IL37 interleukin 37 gene DOID:630 genetic disease ISO RGD:1346334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062225 IL37 interleukin 37 gene DOID:9007391 Inflammatory Bowel Disease 31 ISO RGD:1346334 D RGD:7240710 20210707 OMIM 12062247 SLC9B1 solute carrier family 9 member B1 gene DOID:0060224 atrial fibrillation ISO RGD:1605279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12062247 SLC9B1 solute carrier family 9 member B1 gene DOID:0110630 Wolfram syndrome 2 ISO RGD:1605279 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolfram syndrome 2 PMID:10739754|PMID:17846994|PMID:25056293|PMID:25741868|PMID:28492532 12062247 SLC9B1 solute carrier family 9 member B1 gene DOID:3633 beta-mannosidosis ISO RGD:1605279 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 12062247 SLC9B1 solute carrier family 9 member B1 gene DOID:630 genetic disease ISO RGD:1605279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062272 PTTG1IP PTTG1 interacting protein gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1314337 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 12062272 PTTG1IP PTTG1 interacting protein gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1314337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12062272 PTTG1IP PTTG1 interacting protein gene DOID:0110266 cataract 9 multiple types ISO RGD:1314337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12062272 PTTG1IP PTTG1 interacting protein gene DOID:12849 autistic disorder ISO RGD:1314337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12062272 PTTG1IP PTTG1 interacting protein gene DOID:630 genetic disease ISO RGD:1314337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062272 PTTG1IP PTTG1 interacting protein gene DOID:891 progressive myoclonus epilepsy ISO RGD:1314337 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12062272 PTTG1IP PTTG1 interacting protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12062272 PTTG1IP PTTG1 interacting protein gene DOID:9263 homocystinuria ISO RGD:1314337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12062272 PTTG1IP PTTG1 interacting protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:1314337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12062334 AURKC aurora kinase C gene DOID:0070183 spermatogenic failure 5 ISO RGD:1343852 D RGD:7240710 20190315 OMIM 12062334 AURKC aurora kinase C gene DOID:0070183 spermatogenic failure 5 ISO RGD:1343852 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Infertility associated with multi-tailed spermatozoa and excessive DNA | ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder PMID:17435757|PMID:19147683|PMID:21733974|PMID:22888167|PMID:24033266|PMID:25219909|PMID:25741868|PMID:25755131|PMID:26341096|PMID:27106102|PMID:28492532|PMID:31455599 12062334 AURKC aurora kinase C gene DOID:0111910 spermatogenic failure ISO RGD:1343852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic Failure 12062334 AURKC aurora kinase C gene DOID:12336 male infertility ISO RGD:1343852 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17435757 12062334 AURKC aurora kinase C gene DOID:630 genetic disease ISO RGD:1343852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062375 CCDC142 coiled-coil domain containing 142 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1606203 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12062375 CCDC142 coiled-coil domain containing 142 gene DOID:543 dystonia ISO RGD:1606203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12062375 CCDC142 coiled-coil domain containing 142 gene DOID:630 genetic disease ISO RGD:1606203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062375 CCDC142 coiled-coil domain containing 142 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1606203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12062401 ITGA2B integrin subunit alpha 2b gene DOID:0060573 von Willebrand's disease 1 severity ISO RGD:1349627 D RGD:9068941 20200609 RGD DNA:haplotype:cds: PMID:15226188|REF_RGD_ID:10766468 12062401 ITGA2B integrin subunit alpha 2b gene DOID:0060574 von Willebrand's disease 2 no_association ISO RGD:1349627 D RGD:9068941 20200609 RGD DNA:haplotype:: PMID:16409463|REF_RGD_ID:10766469 12062401 ITGA2B integrin subunit alpha 2b gene DOID:0060691 platelet-type bleeding disorder 16 ISO RGD:1349627 D RGD:7240710 20180130 OMIM 12062401 ITGA2B integrin subunit alpha 2b gene DOID:0060691 platelet-type bleeding disorder 16 ISO RGD:1349627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 16 PMID:10607701|PMID:14687991|PMID:15099289|PMID:1638023|PMID:16722529|PMID:18065693|PMID:19691478|PMID:19805198|PMID:20020534|PMID:20081061|PMID:21454453|PMID:21917754|PMID:22102273|PMID:25539746|PMID:25728920|PMID:25741868|PMID:25749862|PMID:25944497|PMID:27469266|PMID:28492532|PMID:29090484|PMID:31064749|PMID:31119735|PMID:32139434|PMID:32237906|PMID:32581362|PMID:33276370|PMID:34355501|PMID:9215749|PMID:9834222 12062401 ITGA2B integrin subunit alpha 2b gene DOID:1588 thrombocytopenia ISO RGD:1349627 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:1638023|PMID:18065693|PMID:19805198|PMID:20081061|PMID:21454453|PMID:22102273|PMID:25728920|PMID:25741868|PMID:25749862|PMID:25944497|PMID:27469266|PMID:28492532|PMID:29090484|PMID:31064749|PMID:31119735|PMID:32581362|PMID:33276370|PMID:9215749|PMID:9834222 12062401 ITGA2B integrin subunit alpha 2b gene DOID:2213 hemorrhagic disease ISO RGD:1349627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 12062401 ITGA2B integrin subunit alpha 2b gene DOID:2219 Glanzmann's thrombasthenia IAGP D RGD:12801476 20210922 OMIA Thrombasthenia PMID:8128434|PMID:8885176|PMID:11105947|PMID:11355654|PMID:11703027|PMID:14662345|PMID:15198264|PMID:6064862|PMID:21606353|PMID:26764135|PMID:4484966|PMID:4428600|PMID:3715800|PMID:33636747 12062401 ITGA2B integrin subunit alpha 2b gene DOID:2219 Glanzmann's thrombasthenia ISO RGD:1349627 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 | ClinVar Annotator: match by term: Glanzmann thrombasthenia PMID:10607701|PMID:11091187|PMID:11798398|PMID:12008952|PMID:12083483|PMID:12181054|PMID:12424194|PMID:12487785|PMID:12506038|PMID:1317725|PMID:14687991|PMID:15099289|PMID:15748238|PMID:15886807|PMID:16199547|PMID:16359514|PMID:1638023|PMID:16463284|PMID:16722529|PMID:17488698|PMID:17576681|PMID:18065693|PMID:18422845|PMID:18791937|PMID:18976939|PMID:19170775|PMID:19172520|PMID:19175981|PMID:1926040|PMID:19339519|PMID:19691478|PMID:19805198|PMID:20020534|PMID:20081061|PMID:2014236|PMID:20492470|PMID:21113249|PMID:21454453|PMID:21487445|PMID:21557682|PMID:21917754|PMID:22102273|PMID:22190468|PMID:22250950|PMID:22513797|PMID:22738334|PMID:23305224|PMID:24418945|PMID:25326637|PMID:25373348|PMID:25539746|PMID:25728920|PMID:25741868|PMID:25749862|PMID:25827233|PMID:25944497|PMID:26096001|PMID:27469266|PMID:27607598|PMID:27696190|PMID:28232155|PMID:28492532|PMID:28888044|PMID:28983057|PMID:29090484|PMID:29675921|PMID:29884513|PMID:30138987|PMID:30792900|PMID:31064749|PMID:31119735|PMID:32139434|PMID:32237906|PMID:32581362|PMID:33276370|PMID:34355501|PMID:7508443|PMID:7620188|PMID:7706461|PMID:8282784|PMID:8704171|PMID:8883261|PMID:9215749|PMID:9473221|PMID:9536098|PMID:9722314|PMID:9734640|PMID:9763559|PMID:9834222|PMID:9920835 12062401 ITGA2B integrin subunit alpha 2b gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1349627 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 12062401 ITGA2B integrin subunit alpha 2b gene DOID:3410 carotid artery thrombosis ISO RGD:1349627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1605806 12062401 ITGA2B integrin subunit alpha 2b gene DOID:630 genetic disease ISO RGD:1349627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12062401 ITGA2B integrin subunit alpha 2b gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1349627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12062401 ITGA2B integrin subunit alpha 2b gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12062401 ITGA2B integrin subunit alpha 2b gene DOID:9002319 Glanzmann Thrombasthenia 1 ISO RGD:1349627 D RGD:7240710 20220427 OMIM 12062401 ITGA2B integrin subunit alpha 2b gene DOID:9002319 Glanzmann Thrombasthenia 1 ISO RGD:1349627 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glanzmann thrombasthenia 1 PMID:10607701|PMID:11798398|PMID:12083483|PMID:12181054|PMID:12424194|PMID:1317725|PMID:15099289|PMID:16359514|PMID:16463284|PMID:1702098|PMID:17576681|PMID:1926040|PMID:19691478|PMID:20020534|PMID:2014236|PMID:21113249|PMID:21454453|PMID:21487445|PMID:21557682|PMID:21917754|PMID:22190468|PMID:22513797|PMID:24418945|PMID:25326637|PMID:25373348|PMID:25539746|PMID:25728920|PMID:25741868|PMID:27607598|PMID:27696190|PMID:28232155|PMID:28492532|PMID:28983057|PMID:29090484|PMID:29675921|PMID:30138987|PMID:31064749|PMID:31119735|PMID:32237906|PMID:32581362|PMID:34355501|PMID:7508443|PMID:7620188|PMID:7706461|PMID:8282784|PMID:8704171|PMID:8883261|PMID:9215749|PMID:9473221|PMID:9536098|PMID:9722314|PMID:9734640|PMID:9763559|PMID:9920835 12062401 ITGA2B integrin subunit alpha 2b gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1349627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9445356 12062401 ITGA2B integrin subunit alpha 2b gene DOID:9003340 Neonatal Alloimmune Thrombocytopenia ISO RGD:1349627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BAK PLATELET-SPECIFIC ANTIGEN PMID:2014236|PMID:25741868|PMID:28492532 12062401 ITGA2B integrin subunit alpha 2b gene DOID:9004009 Reperfusion Injury ISO RGD:1596428 D RGD:9068941 20200609 RGD PMID:11705748|REF_RGD_ID:2316361 12062401 ITGA2B integrin subunit alpha 2b gene DOID:9005876 Thrombocytopenic Purpura ISO RGD:1557725 D RGD:9068941 20200609 RGD PMID:11493456|REF_RGD_ID:2316362 12062401 ITGA2B integrin subunit alpha 2b gene DOID:9005930 Endotoxemia ISO RGD:1596428 D RGD:9068941 20200609 RGD PMID:15280099|REF_RGD_ID:2316360 12062401 ITGA2B integrin subunit alpha 2b gene DOID:9007096 Stroke ISO RGD:1349627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9445356 12062401 ITGA2B integrin subunit alpha 2b gene DOID:9007096 Stroke ISO RGD:1596428 D RGD:9068941 20200609 RGD PMID:15678115|REF_RGD_ID:2316358 12062436 SMARCA5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 gene DOID:1059 intellectual disability ISO RGD:1318831 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual disability 12062436 SMARCA5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 gene DOID:630 genetic disease ISO RGD:1318831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062436 SMARCA5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 gene DOID:9007661 Dwarfism ISO RGD:1318831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12062436 SMARCA5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1318831 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay 12062464 ARHGEF3 Rho guanine nucleotide exchange factor 3 gene DOID:630 genetic disease ISO RGD:1321712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062493 ATP6V1E1 ATPase H+ transporting V1 subunit E1 gene DOID:0070140 autosomal recessive cutis laxa type IIC ISO RGD:1347206 D RGD:7240710 20190315 OMIM 12062493 ATP6V1E1 ATPase H+ transporting V1 subunit E1 gene DOID:0070140 autosomal recessive cutis laxa type IIC ISO RGD:1347206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC PMID:27023906|PMID:28065471 12062493 ATP6V1E1 ATPase H+ transporting V1 subunit E1 gene DOID:0111996 immunodeficiency 51 ISO RGD:1347206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12062493 ATP6V1E1 ATPase H+ transporting V1 subunit E1 gene DOID:630 genetic disease ISO RGD:1347206 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062493 ATP6V1E1 ATPase H+ transporting V1 subunit E1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12062493 ATP6V1E1 ATPase H+ transporting V1 subunit E1 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1347206 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12062506 MPI mannose phosphate isomerase gene DOID:0080554 congenital disorder of glycosylation Ib ISO RGD:1349436 D RGD:7240710 20180130 OMIM 12062506 MPI mannose phosphate isomerase gene DOID:0080554 congenital disorder of glycosylation Ib ISO RGD:1349436 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CDG gastrointestinal type | ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome type 1B | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1B | ClinVar Annotator: match by term: MPI deficiency | ClinVar Annotator: match by term: Saguenay Lac Saint Jean syndrome PMID:10484808|PMID:10980531|PMID:11134235|PMID:11350186|PMID:12414827|PMID:16199547|PMID:17576681|PMID:18928705|PMID:19862844|PMID:24033266|PMID:24421398|PMID:24474243|PMID:24508628|PMID:25741868|PMID:26206375|PMID:28139241|PMID:28492532|PMID:28928705|PMID:30545931|PMID:3080572|PMID:32905087|PMID:9525984|PMID:9536098|PMID:9585601 12062506 MPI mannose phosphate isomerase gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1349436 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 1 PMID:19862844|PMID:25741868|PMID:28492532 12062506 MPI mannose phosphate isomerase gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1349436 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12062506 MPI mannose phosphate isomerase gene DOID:2717 Bloom syndrome ISO RGD:1349436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12062506 MPI mannose phosphate isomerase gene DOID:2978 carbohydrate metabolic disorder ISO RGD:1349436 D RGD:9068941 20200609 RGD CDG Ib, OMIM:602579, DNA:point mutation:exon:R219Q , insertion:exon:116insC PMID:9525984|REF_RGD_ID:1600452 12062506 MPI mannose phosphate isomerase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1349436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 12062506 MPI mannose phosphate isomerase gene DOID:5419 schizophrenia ISO RGD:1349436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12062506 MPI mannose phosphate isomerase gene DOID:630 genetic disease ISO RGD:1349436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062506 MPI mannose phosphate isomerase gene DOID:9256 colorectal cancer ISO RGD:1349436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12062533 CAP2 cyclase associated actin cytoskeleton regulatory protein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:733379 D RGD:9068941 20220825 MouseDO 12062533 CAP2 cyclase associated actin cytoskeleton regulatory protein 2 gene DOID:630 genetic disease ISO RGD:733378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062533 CAP2 cyclase associated actin cytoskeleton regulatory protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:733378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12062550 KLF7 KLF transcription factor 7 gene DOID:1059 intellectual disability ISO RGD:1314410 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: intellectual deficiency PMID:25741868|PMID:29251763 12062550 KLF7 KLF transcription factor 7 gene DOID:14557 primary pulmonary hypertension ISO RGD:1314410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12062550 KLF7 KLF transcription factor 7 gene DOID:630 genetic disease ISO RGD:1314410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17434132|PMID:18094723|PMID:25741868|PMID:28492532|PMID:29251763 12062550 KLF7 KLF transcription factor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314410 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: KLF7-related neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:17434132|PMID:18094723|PMID:25741868|PMID:28492532|PMID:29251763 12062566 RAB24 RAB24, member RAS oncogene family gene DOID:0050753 cerebellar ataxia IAGP D RGD:12801476 20210603 OMIA Ataxia, cerebellar, juvenile to adolescent, RAB24-related PMID:7440348|PMID:7341602|PMID:11043686|PMID:24516392|PMID:6502189|PMID:3973637 12062566 RAB24 RAB24, member RAS oncogene family gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1344346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12062566 RAB24 RAB24, member RAS oncogene family gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1344346 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs1128287) C>A (human) PMID:27354594|REF_RGD_ID:152177496 12062566 RAB24 RAB24, member RAS oncogene family gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1344346 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12062566 RAB24 RAB24, member RAS oncogene family gene DOID:0112103 Sotos syndrome 1 ISO RGD:1344346 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 12062566 RAB24 RAB24, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1344346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062566 RAB24 RAB24, member RAS oncogene family gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1344346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12062566 RAB24 RAB24, member RAS oncogene family gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1344346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 12062586 EMC8 ER membrane protein complex subunit 8 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1322563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12062586 EMC8 ER membrane protein complex subunit 8 gene DOID:630 genetic disease ISO RGD:1322563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062598 CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 gene DOID:0050724 PSPH deficiency ISO RGD:1320361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency PMID:28492532 12062598 CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 gene DOID:0080504 Parkinson's disease 22 ISO RGD:1320361 D RGD:7240710 20180130 OMIM 12062598 CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 gene DOID:0080504 Parkinson's disease 22 ISO RGD:1320361 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinson disease 22, autosomal dominant PMID:25662902|PMID:25741868|PMID:26067110|PMID:26067113|PMID:26561290|PMID:28492532|PMID:32068847 12062598 CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1320361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12062598 CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 gene DOID:2187 amelogenesis imperfecta ISO RGD:1320361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta 12062598 CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12062598 CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 gene DOID:630 genetic disease ISO RGD:1320361 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12062606 FLYWCH2 FLYWCH family member 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1602659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12062606 FLYWCH2 FLYWCH family member 2 gene DOID:1826 epilepsy ISO RGD:1602659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12062606 FLYWCH2 FLYWCH family member 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1602659 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12062606 FLYWCH2 FLYWCH family member 2 gene DOID:630 genetic disease ISO RGD:1602659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062613 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1342982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12062613 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1342982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12062613 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1342982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12062613 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1342982 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12062613 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1342982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12062613 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1342982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12062613 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:5812 MHC class II deficiency ISO RGD:1342982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12062613 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:630 genetic disease ISO RGD:1342982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062613 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12062613 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1342982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12062634 LOC481650 protein NipSnap homolog 3A gene DOID:630 genetic disease ISO RGD:1352624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062644 ANKRD6 ankyrin repeat domain 6 gene DOID:630 genetic disease ISO RGD:1317569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062684 OTUD7B OTU deubiquitinase 7B gene DOID:0111940 immunodeficiency 42 ISO RGD:1352780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12062684 OTUD7B OTU deubiquitinase 7B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1352780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12062684 OTUD7B OTU deubiquitinase 7B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1352780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12062684 OTUD7B OTU deubiquitinase 7B gene DOID:1540 parathyroid carcinoma ISO RGD:1352780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12062684 OTUD7B OTU deubiquitinase 7B gene DOID:5812 MHC class II deficiency ISO RGD:1352780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12062684 OTUD7B OTU deubiquitinase 7B gene DOID:630 genetic disease ISO RGD:1352780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062684 OTUD7B OTU deubiquitinase 7B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12062711 CNTF ciliary neurotrophic factor gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:734034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11951178 12062711 CNTF ciliary neurotrophic factor gene DOID:10126 keratoconus ISO RGD:734034 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:corneal epithelium: PMID:23489213|REF_RGD_ID:8655632 12062711 CNTF ciliary neurotrophic factor gene DOID:10584 retinitis pigmentosa disease_progression ISO RGD:2370 D RGD:9068941 20210709 RGD associated with lens injury PMID:24558606|REF_RGD_ID:40818112 12062711 CNTF ciliary neurotrophic factor gene DOID:1059 intellectual disability ISO RGD:734034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12062711 CNTF ciliary neurotrophic factor gene DOID:12858 Huntington's disease ISO RGD:2370 D RGD:9068941 20200609 RGD PMID:12040055|REF_RGD_ID:628474 12062711 CNTF ciliary neurotrophic factor gene DOID:12858 Huntington's disease treatment ISO RGD:734034 D RGD:9068941 20200609 RGD human gene in a cynomolgus monkey model PMID:9121555|REF_RGD_ID:734795 12062711 CNTF ciliary neurotrophic factor gene DOID:150 disease of mental health ISO RGD:734034 D RGD:9068941 20200820 RGD PMID:8834105|REF_RGD_ID:1358522 12062711 CNTF ciliary neurotrophic factor gene DOID:1686 glaucoma ISO RGD:734034 D RGD:9068941 20200609 RGD PMID:19060281|REF_RGD_ID:8655853 12062711 CNTF ciliary neurotrophic factor gene DOID:1686 glaucoma ameliorates ISO RGD:2370 D RGD:9068941 20230415 RGD PMID:14725620|REF_RGD_ID:1626115 12062711 CNTF ciliary neurotrophic factor gene DOID:2377 multiple sclerosis onset ISO RGD:734034 D RGD:9068941 20200609 RGD DNA:point mutation:intron:G-to-A transition at -6 from the start of exon 2, leads to aberrant splicing, frameshift and a truncated protein PMID:11890844|REF_RGD_ID:1626112 12062711 CNTF ciliary neurotrophic factor gene DOID:332 amyotrophic lateral sclerosis susceptibility ISO RGD:737002 D RGD:9068941 20200609 RGD PMID:11951178|REF_RGD_ID:734796 12062711 CNTF ciliary neurotrophic factor gene DOID:4195 hyperglycemia ISO RGD:2370 D RGD:9068941 20200609 RGD protein:decreased expression:sciatic nerve:resulting from galactose feeding or streptozotocin-induced diabetes PMID:1571789|REF_RGD_ID:1626119 12062711 CNTF ciliary neurotrophic factor gene DOID:630 genetic disease ISO RGD:734034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062711 CNTF ciliary neurotrophic factor gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:2370 D RGD:9068941 20200609 RGD PMID:8125754|REF_RGD_ID:8655591 12062711 CNTF ciliary neurotrophic factor gene DOID:9002676 Cerebral Hemorrhage ISO RGD:734034 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11701153 12062711 CNTF ciliary neurotrophic factor gene DOID:9002955 Nerve Degeneration ISO RGD:734034 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15372491 12062711 CNTF ciliary neurotrophic factor gene DOID:9970 obesity ISO RGD:734034 D RGD:9068941 20200609 RGD DNA:point mutation:intron:G>A PMID:12404108|REF_RGD_ID:1626113 12062711 CNTF ciliary neurotrophic factor gene DOID:9970 obesity no_association ISO RGD:734034 D RGD:9068941 20200609 RGD DNA:point mutation:intron:G>A PMID:14747836|REF_RGD_ID:1626114 12062734 RNF123 ring finger protein 123 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12062734 RNF123 ring finger protein 123 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12062734 RNF123 ring finger protein 123 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1350672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12062734 RNF123 ring finger protein 123 gene DOID:630 genetic disease ISO RGD:1350672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062734 RNF123 ring finger protein 123 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1350672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12062784 TRIM21 tripartite motif containing 21 gene DOID:0080773 delta beta-thalassemia ISO RGD:1345175 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12062784 TRIM21 tripartite motif containing 21 gene DOID:630 genetic disease ISO RGD:1345175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062795 CYP8B1 cytochrome P450 family 8 subfamily B member 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:71016 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 12062795 CYP8B1 cytochrome P450 family 8 subfamily B member 1 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:736649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 12062795 CYP8B1 cytochrome P450 family 8 subfamily B member 1 gene DOID:10787 premature menopause ISO RGD:71016 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 12062795 CYP8B1 cytochrome P450 family 8 subfamily B member 1 gene DOID:13580 cholestasis ISO RGD:736649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461449 12062795 CYP8B1 cytochrome P450 family 8 subfamily B member 1 gene DOID:13619 extrahepatic cholestasis treatment ISO RGD:71016 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:29360226|REF_RGD_ID:14995480 12062795 CYP8B1 cytochrome P450 family 8 subfamily B member 1 gene DOID:630 genetic disease ISO RGD:736649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062795 CYP8B1 cytochrome P450 family 8 subfamily B member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25448281 12062800 LOC487079 homeobox protein Mohawk gene DOID:630 genetic disease ISO RGD:1313806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062800 LOC487079 homeobox protein Mohawk gene DOID:9003295 Heterotopic Ossification ISO RGD:1305652 D RGD:9068941 20210416 RGD compared to Wistar PMID:27370800|REF_RGD_ID:40924660 12062823 TTBK2 tau tubulin kinase 2 gene DOID:0050952 spastic ataxia ISO RGD:1347811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 12062823 TTBK2 tau tubulin kinase 2 gene DOID:0050961 spinocerebellar ataxia type 11 ISO RGD:1347811 D RGD:7240710 20180130 OMIM 12062823 TTBK2 tau tubulin kinase 2 gene DOID:0050961 spinocerebellar ataxia type 11 ISO RGD:1347811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 11 PMID:18037885|PMID:19533200|PMID:20301723|PMID:22073189|PMID:24808823|PMID:25741868|PMID:26063658|PMID:26467025|PMID:27744525|PMID:28492532 12062823 TTBK2 tau tubulin kinase 2 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1347811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia 12062823 TTBK2 tau tubulin kinase 2 gene DOID:2717 Bloom syndrome ISO RGD:1347811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12062823 TTBK2 tau tubulin kinase 2 gene DOID:630 genetic disease ISO RGD:1347811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12062823 TTBK2 tau tubulin kinase 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1347811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18037885 12062823 TTBK2 tau tubulin kinase 2 gene DOID:9256 colorectal cancer ISO RGD:1347811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12062865 PLEKHN1 pleckstrin homology domain containing N1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12062865 PLEKHN1 pleckstrin homology domain containing N1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604774 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12062865 PLEKHN1 pleckstrin homology domain containing N1 gene DOID:0080600 COVID-19 ISO RGD:1604774 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12062865 PLEKHN1 pleckstrin homology domain containing N1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1604774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12062865 PLEKHN1 pleckstrin homology domain containing N1 gene DOID:0111934 immunodeficiency 38 ISO RGD:1604774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12062865 PLEKHN1 pleckstrin homology domain containing N1 gene DOID:0111935 immunodeficiency 16 ISO RGD:1604774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12062865 PLEKHN1 pleckstrin homology domain containing N1 gene DOID:630 genetic disease ISO RGD:1604774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062865 PLEKHN1 pleckstrin homology domain containing N1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12062865 PLEKHN1 pleckstrin homology domain containing N1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1604774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12062887 KRT23 keratin 23 gene DOID:630 genetic disease ISO RGD:1318841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062902 DNAH5 dynein axonemal heavy chain 5 gene DOID:0050144 Kartagener syndrome ISO RGD:1348406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:11788826|PMID:16627867|PMID:19357118|PMID:19630565|PMID:23477994|PMID:25741868|PMID:28492532|PMID:30067075 12062902 DNAH5 dynein axonemal heavy chain 5 gene DOID:0050144 Kartagener syndrome susceptibility ISO RGD:1348406 D RGD:9068941 20200609 RGD DNA:mutations PMID:11788826|REF_RGD_ID:1601080 12062902 DNAH5 dynein axonemal heavy chain 5 gene DOID:0050545 visceral heterotaxy ISO RGD:1348406 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Situs ambiguus PMID:11788826|PMID:16627867|PMID:19357118|PMID:25186273|PMID:25741868|PMID:26228299|PMID:28492532|PMID:30290127 12062902 DNAH5 dynein axonemal heavy chain 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1348406 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12062902 DNAH5 dynein axonemal heavy chain 5 gene DOID:0110599 primary ciliary dyskinesia 3 ISO RGD:1348406 D RGD:7240710 20180130 OMIM 12062902 DNAH5 dynein axonemal heavy chain 5 gene DOID:0110599 primary ciliary dyskinesia 3 ISO RGD:1348406 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 PMID:11062149|PMID:11788826|PMID:11912187|PMID:15750039|PMID:16199547|PMID:16492982|PMID:16627867|PMID:17534128|PMID:17576681|PMID:18492703|PMID:18950741|PMID:19357118|PMID:19630565|PMID:20301301|PMID:2127064|PMID:21270641|PMID:22416021|PMID:22499950|PMID:23261302|PMID:23477994|PMID:2389146|PMID:23891469|PMID:24033266|PMID:24150548|PMID:24448499|PMID:24498942|PMID:25066065|PMID:25118008|PMID:25186273|PMID:25326635|PMID:25741868|PMID:25802884|PMID:26139845|PMID:26228299|PMID:26373788|PMID:26918822|PMID:26938784|PMID:27637300|PMID:27779714|PMID:28492532|PMID:29089047|PMID:29363216|PMID:29402277|PMID:29453417|PMID:30067075|PMID:30293990|PMID:30300419|PMID:31213628|PMID:31589614|PMID:31624253|PMID:31638833|PMID:31772028|PMID:31879361|PMID:32357925|PMID:32367404|PMID:32502479|PMID:32502767|PMID:33574797|PMID:33589394|PMID:33635012|PMID:9536098 12062902 DNAH5 dynein axonemal heavy chain 5 gene DOID:10754 otitis media ISO RGD:1558622 D RGD:9068941 20220825 MouseDO OMIM:166760 12062902 DNAH5 dynein axonemal heavy chain 5 gene DOID:12336 male infertility ISO RGD:1348406 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Male infertility PMID:11788826|PMID:16627867|PMID:19357118|PMID:25741868|PMID:28492532|PMID:33574797 12062902 DNAH5 dynein axonemal heavy chain 5 gene DOID:2841 asthma ISO RGD:1348406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21912604 12062902 DNAH5 dynein axonemal heavy chain 5 gene DOID:5223 infertility ISO RGD:1348406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infertility PMID:11788826|PMID:16627867|PMID:25741868|PMID:27637300|PMID:28492532|PMID:30293990|PMID:31589614|PMID:31879361 12062902 DNAH5 dynein axonemal heavy chain 5 gene DOID:630 genetic disease ISO RGD:1348406 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11788826|PMID:16199547|PMID:16627867|PMID:17576681|PMID:2127064|PMID:21270641|PMID:23261302|PMID:2389146|PMID:23891469|PMID:24033266|PMID:25741868|PMID:26373788|PMID:27637300|PMID:28492532|PMID:30067075|PMID:9536098 12062902 DNAH5 dynein axonemal heavy chain 5 gene DOID:6419 tetralogy of Fallot ISO RGD:1558622 D RGD:9068941 20220825 MouseDO OMIM:187500 12062902 DNAH5 dynein axonemal heavy chain 5 gene DOID:758 situs inversus ISO RGD:1348406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:11788826|PMID:16627867|PMID:19357118|PMID:25186273|PMID:25741868|PMID:26228299|PMID:28492532|PMID:30290127 12062902 DNAH5 dynein axonemal heavy chain 5 gene DOID:9007073 Cough ISO RGD:1348406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cough PMID:25741868|PMID:28492532 12062902 DNAH5 dynein axonemal heavy chain 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1348406 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:11062149|PMID:11788826|PMID:11912187|PMID:15750039|PMID:16199547|PMID:16492982|PMID:16627867|PMID:17534128|PMID:17576681|PMID:18492703|PMID:18950741|PMID:19357118|PMID:19630565|PMID:19763152|PMID:20301301|PMID:20307669|PMID:2127064|PMID:21270641|PMID:22406018|PMID:22416021|PMID:22499950|PMID:23261302|PMID:23477994|PMID:2389146|PMID:23891469|PMID:24033266|PMID:24150548|PMID:24448499|PMID:24498942|PMID:24905662|PMID:2506606|PMID:25066065|PMID:25118008|PMID:25186273|PMID:25326635|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25802884|PMID:26139845|PMID:26228299|PMID:26373788|PMID:26918822|PMID:26938784|PMID:27428751|PMID:27618201|PMID:27637300|PMID:27637763|PMID:27779714|PMID:27988889|PMID:28492532|PMID:28939216|PMID:28976722|PMID:29089047|PMID:29363216|PMID:29402277|PMID:29453417|PMID:30067075|PMID:30148830|PMID:30290127|PMID:30293990|PMID:30300419|PMID:31213628|PMID:31443223|PMID:31469207|PMID:31589614|PMID:31624253|PMID:31638833|PMID:31765523|PMID:31772028|PMID:31879361|PMID:32357925|PMID:32367404|PMID:32502479|PMID:32502767|PMID:33574797|PMID:33577779|PMID:33589394|PMID:33635012|PMID:9536098 12062987 MAL2 mal, T cell differentiation protein 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1348409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12062987 MAL2 mal, T cell differentiation protein 2 gene DOID:206 hereditary multiple exostoses ISO RGD:1348409 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 12062987 MAL2 mal, T cell differentiation protein 2 gene DOID:630 genetic disease ISO RGD:1348409 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12062994 RAD21L1 RAD21 cohesin complex component like 1 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1348792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 12062994 RAD21L1 RAD21 cohesin complex component like 1 gene DOID:630 genetic disease ISO RGD:1348792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063018 RMI2 RecQ mediated genome instability 2 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1606180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 12063018 RMI2 RecQ mediated genome instability 2 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1606180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 12063018 RMI2 RecQ mediated genome instability 2 gene DOID:5812 MHC class II deficiency ISO RGD:1606180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12063018 RMI2 RecQ mediated genome instability 2 gene DOID:630 genetic disease ISO RGD:1606180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063033 UBE2U ubiquitin conjugating enzyme E2 U gene DOID:1059 intellectual disability ISO RGD:1606149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12063033 UBE2U ubiquitin conjugating enzyme E2 U gene DOID:630 genetic disease ISO RGD:1606149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063050 DZIP1L DAZ interacting zinc finger protein 1 like gene DOID:0080273 polycystic kidney disease 5 ISO RGD:1344571 D RGD:7240710 20190315 OMIM 12063050 DZIP1L DAZ interacting zinc finger protein 1 like gene DOID:0080273 polycystic kidney disease 5 ISO RGD:1344571 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 5 PMID:25741868|PMID:28492532|PMID:28530676 12063050 DZIP1L DAZ interacting zinc finger protein 1 like gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1344571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28530676 12063050 DZIP1L DAZ interacting zinc finger protein 1 like gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1549981 D RGD:9068941 20220825 MouseDO OMIM:263200 12063050 DZIP1L DAZ interacting zinc finger protein 1 like gene DOID:630 genetic disease ISO RGD:1344571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12063103 IP6K2 inositol hexakisphosphate kinase 2 gene DOID:12858 Huntington's disease ISO RGD:731328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21652713 12063103 IP6K2 inositol hexakisphosphate kinase 2 gene DOID:630 genetic disease ISO RGD:731328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063103 IP6K2 inositol hexakisphosphate kinase 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:731328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12063103 IP6K2 inositol hexakisphosphate kinase 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:731328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12063132 CEP85L centrosomal protein 85 like gene DOID:0050453 lissencephaly ISO RGD:1346539 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive | ClinVar Annotator: match by term: Posterior Predominant Lissencephaly PMID:12910438|PMID:25741868|PMID:29706646|PMID:32097629|PMID:32097630 12063132 CEP85L centrosomal protein 85 like gene DOID:0050700 cardiomyopathy ISO RGD:1346539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12610310|PMID:12639993|PMID:16235537|PMID:17655857|PMID:18056057|PMID:19139388|PMID:21167350|PMID:21282613|PMID:21332051|PMID:22137083|PMID:22427649|PMID:22707725|PMID:23308118|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25593317|PMID:25611685|PMID:25741868|PMID:25928149|PMID:26535225|PMID:26573135|PMID:26688388|PMID:26917049|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28790153|PMID:30242101|PMID:31705731|PMID:31737537 12063132 CEP85L centrosomal protein 85 like gene DOID:0060319 cardiac arrest ISO RGD:1346539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:12639993|PMID:16235537|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:27532257|PMID:28492532|PMID:28600387 12063132 CEP85L centrosomal protein 85 like gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1346539 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12063132 CEP85L centrosomal protein 85 like gene DOID:0110324 hypertrophic cardiomyopathy 18 ISO RGD:1346539 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 18 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 18 PMID:12610310|PMID:12639993|PMID:12705874|PMID:16235537|PMID:16829191|PMID:17655857|PMID:21167350|PMID:21332051|PMID:21735565|PMID:22137083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:26573135|PMID:26688388|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28790153|PMID:31705731|PMID:31737537 12063132 CEP85L centrosomal protein 85 like gene DOID:0110439 dilated cardiomyopathy 1P ISO RGD:1346539 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1P PMID:12610310|PMID:12639993|PMID:12705874|PMID:16235537|PMID:16829191|PMID:16897780|PMID:17655857|PMID:18056057|PMID:18241046|PMID:19139388|PMID:21167350|PMID:21282613|PMID:21332051|PMID:21735565|PMID:22137083|PMID:22427649|PMID:22707725|PMID:23308118|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24451198|PMID:24503780|PMID:24909667|PMID:25351510|PMID:25563649|PMID:25593317|PMID:25611685|PMID:25691538|PMID:25741868|PMID:25852082|PMID:25928149|PMID:26535225|PMID:26573135|PMID:26688388|PMID:26917049|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28771489|PMID:28790153|PMID:29501609|PMID:30012515|PMID:30012837|PMID:30242101|PMID:30794913|PMID:30847666|PMID:30871747|PMID:31705731|PMID:31737537|PMID:33495597|PMID:35297759 12063132 CEP85L centrosomal protein 85 like gene DOID:0110786 hereditary spastic paraplegia 35 ISO RGD:1346539 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, WITH OR WITHOUT NEURODEGENERATION PMID:12610310|PMID:16829191|PMID:21735565|PMID:28492532 12063132 CEP85L centrosomal protein 85 like gene DOID:0112229 lissencephaly 10 ISO RGD:1346539 D RGD:7240710 20200527 OMIM 12063132 CEP85L centrosomal protein 85 like gene DOID:0112229 lissencephaly 10 ISO RGD:1346539 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lissencephaly 10 PMID:12910438|PMID:18241046|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29706646|PMID:32097629|PMID:32097630 12063132 CEP85L centrosomal protein 85 like gene DOID:1059 intellectual disability ISO RGD:1346539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 12063132 CEP85L centrosomal protein 85 like gene DOID:10907 microcephaly ISO RGD:1346539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 12063132 CEP85L centrosomal protein 85 like gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1346539 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:12639993|PMID:16235537|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:26688388|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28790153|PMID:31705731|PMID:31737537 12063132 CEP85L centrosomal protein 85 like gene DOID:12849 autistic disorder ISO RGD:1346539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 12063132 CEP85L centrosomal protein 85 like gene DOID:12930 dilated cardiomyopathy ISO RGD:1346539 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12610310|PMID:12639993|PMID:16235537|PMID:16897780|PMID:17655857|PMID:18056057|PMID:19139388|PMID:21167350|PMID:21282613|PMID:21332051|PMID:22137083|PMID:22427649|PMID:22707725|PMID:23308118|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25593317|PMID:25611685|PMID:25691538|PMID:25741868|PMID:25852082|PMID:25928149|PMID:26535225|PMID:26917049|PMID:27532257|PMID:28492532|PMID:28600387|PMID:30012515|PMID:30012837|PMID:30847666 12063132 CEP85L centrosomal protein 85 like gene DOID:14289 Ebstein anomaly ISO RGD:1346539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ebstein anomaly 12063132 CEP85L centrosomal protein 85 like gene DOID:1826 epilepsy ISO RGD:1346539 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12063132 CEP85L centrosomal protein 85 like gene DOID:630 genetic disease ISO RGD:1346539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063132 CEP85L centrosomal protein 85 like gene DOID:9000495 Tremor ISO RGD:1346539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12063132 CEP85L centrosomal protein 85 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32097630 12063132 CEP85L centrosomal protein 85 like gene DOID:9007925 Sudden Cardiac Death ISO RGD:1346539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:12639993|PMID:16235537|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:27532257|PMID:28492532|PMID:28600387 12063151 CDKN3 cyclin dependent kinase inhibitor 3 gene DOID:0080600 COVID-19 ISO RGD:1317172 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12063151 CDKN3 cyclin dependent kinase inhibitor 3 gene DOID:0090043 dystonia 5 ISO RGD:1317172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:17111153|PMID:19332422|PMID:19491146|PMID:25557619|PMID:28492532|PMID:9667588 12063151 CDKN3 cyclin dependent kinase inhibitor 3 gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:1317172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:18252212|PMID:21340693|PMID:28492532 12063151 CDKN3 cyclin dependent kinase inhibitor 3 gene DOID:630 genetic disease ISO RGD:1317172 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063151 CDKN3 cyclin dependent kinase inhibitor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1317172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12063151 CDKN3 cyclin dependent kinase inhibitor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1317172 D RGD:9068941 20200609 RGD associated with alcoholism; protein:increased expression:liver PMID:23292002|REF_RGD_ID:15090802 12063151 CDKN3 cyclin dependent kinase inhibitor 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1317172 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:22390936|REF_RGD_ID:15090800 12063151 CDKN3 cyclin dependent kinase inhibitor 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1317172 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:27314282|REF_RGD_ID:15090801 12063151 CDKN3 cyclin dependent kinase inhibitor 3 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1317172 D RGD:9068941 20200609 RGD PMID:23292002|REF_RGD_ID:15090802 12063151 CDKN3 cyclin dependent kinase inhibitor 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12063210 PCLAF PCNA clamp associated factor gene DOID:0110935 nemaline myopathy 6 ISO RGD:1353661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12063210 PCLAF PCNA clamp associated factor gene DOID:2717 Bloom syndrome ISO RGD:1353661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12063210 PCLAF PCNA clamp associated factor gene DOID:630 genetic disease ISO RGD:1353661 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063210 PCLAF PCNA clamp associated factor gene DOID:684 hepatocellular carcinoma ISO RGD:1353661 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12063210 PCLAF PCNA clamp associated factor gene DOID:9256 colorectal cancer ISO RGD:1353661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12063241 TSHZ2 teashirt zinc finger homeobox 2 gene DOID:0080600 COVID-19 ISO RGD:1353516 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12063241 TSHZ2 teashirt zinc finger homeobox 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1353516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 12063241 TSHZ2 teashirt zinc finger homeobox 2 gene DOID:13938 amenorrhea ISO RGD:1353516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12063241 TSHZ2 teashirt zinc finger homeobox 2 gene DOID:630 genetic disease ISO RGD:1353516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063278 MCF2L2 MCF.2 cell line derived transforming sequence-like 2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1352917 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12063278 MCF2L2 MCF.2 cell line derived transforming sequence-like 2 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1352917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12063278 MCF2L2 MCF.2 cell line derived transforming sequence-like 2 gene DOID:0111546 Currarino syndrome ISO RGD:1352917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12063278 MCF2L2 MCF.2 cell line derived transforming sequence-like 2 gene DOID:630 genetic disease ISO RGD:1352917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063313 TTC39C tetratricopeptide repeat domain 39C gene DOID:1059 intellectual disability ISO RGD:1345290 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12063313 TTC39C tetratricopeptide repeat domain 39C gene DOID:630 genetic disease ISO RGD:1345290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063330 TMCC2 transmembrane and coiled-coil domain family 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1346306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12063330 TMCC2 transmembrane and coiled-coil domain family 2 gene DOID:12849 autistic disorder ISO RGD:1346306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12063330 TMCC2 transmembrane and coiled-coil domain family 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1346306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12063330 TMCC2 transmembrane and coiled-coil domain family 2 gene DOID:630 genetic disease ISO RGD:1346306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063330 TMCC2 transmembrane and coiled-coil domain family 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1346306 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12063330 TMCC2 transmembrane and coiled-coil domain family 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12063347 TBX4 T-box transcription factor 4 gene DOID:0050777 Joubert syndrome ISO RGD:1319185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12063347 TBX4 T-box transcription factor 4 gene DOID:0111382 ischiocoxopodopatellar syndrome ISO RGD:1319185 D RGD:7240710 20180130 OMIM 12063347 TBX4 T-box transcription factor 4 gene DOID:0111382 ischiocoxopodopatellar syndrome ISO RGD:1319185 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Coxopodopatellar syndrome PMID:11303519|PMID:15106123|PMID:23592887|PMID:24033266|PMID:25741868|PMID:27587546|PMID:28492532|PMID:29120062|PMID:29631995|PMID:29650961|PMID:30029678|PMID:30578397|PMID:31151956|PMID:31761294|PMID:31965066|PMID:32581362|PMID:32860008 12063347 TBX4 T-box transcription factor 4 gene DOID:11111 hydronephrosis ISO RGD:1319185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydronephrosis PMID:25741868|PMID:31965066 12063347 TBX4 T-box transcription factor 4 gene DOID:11372 megacolon ISO RGD:1319185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12063347 TBX4 T-box transcription factor 4 gene DOID:381 arthropathy susceptibility ISO RGD:1319185 D RGD:9068941 20200609 RGD Small Patella Syndrome, OMIM:147891;DNA:missense mutation, nonsense mutation:exon, exon:p.G248V, p.Q62X PMID:15106123|REF_RGD_ID:1601422 12063347 TBX4 T-box transcription factor 4 gene DOID:630 genetic disease ISO RGD:1319185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063347 TBX4 T-box transcription factor 4 gene DOID:9000096 Lung Agenesis ISO RGD:1319185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypoplasia 12063347 TBX4 T-box transcription factor 4 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1319185 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:15106123|PMID:16199547|PMID:25741868|PMID:28492532|PMID:29120062|PMID:29631995|PMID:29650961|PMID:30029678|PMID:30578397|PMID:31151956|PMID:31727138|PMID:31761294|PMID:31965066|PMID:32079640|PMID:32581362|PMID:32860008|PMID:33066286 12063347 TBX4 T-box transcription factor 4 gene DOID:9005155 Amelia, Autosomal Recessive ISO RGD:1319185 D RGD:7240710 20200226 OMIM 12063347 TBX4 T-box transcription factor 4 gene DOID:9005155 Amelia, Autosomal Recessive ISO RGD:1319185 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive amelia PMID:24033266|PMID:25741868|PMID:28492532|PMID:31761294|PMID:31965066 12063347 TBX4 T-box transcription factor 4 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1319185 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:15106123|PMID:16199547|PMID:17576681|PMID:23592887|PMID:25741868|PMID:27587546|PMID:28492532|PMID:29120062|PMID:29631995|PMID:29650961|PMID:30029678|PMID:30578397|PMID:31151956|PMID:31727138|PMID:31761294|PMID:31965066|PMID:32079640|PMID:32348326|PMID:32581362|PMID:32860008|PMID:33066286|PMID:33971972|PMID:34557690|PMID:9536098 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:0050700 cardiomyopathy ISO RGD:1620890 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33171190 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21325069 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle, liver PMID:19323616|REF_RGD_ID:4890033 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:polymorphism: :3435C>T (human) PMID:16107775|REF_RGD_ID:2312343 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:730823 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:0060750 familial temporal lobe epilepsy 3 ISO RGD:730823 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: MDR1 POLYMORPHISM PMID:10716719|PMID:11502320|PMID:12686700|PMID:15452305|PMID:15452306|PMID:15805193|PMID:17185560|PMID:22296372 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:22112382|REF_RGD_ID:11040992 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:0080600 COVID-19 ISO RGD:730823 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma severity ISO RGD:730823 D RGD:9068941 20200609 RGD Nasal Type;protein:increased expression:nasal cavity (human) PMID:18756548|REF_RGD_ID:8657087 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:0110893 inflammatory bowel disease 13 ISO RGD:730823 D RGD:7240710 20180130 OMIM 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:0110893 inflammatory bowel disease 13 ISO RGD:730823 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 13 PMID:14610718|PMID:16434479|PMID:25741868|PMID:9820555 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:10652 Alzheimer's disease ISO RGD:1620890 D RGD:9068941 20200609 RGD PMID:25991605|REF_RGD_ID:13801010 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:114 heart disease ISO RGD:1620890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:1168 familial hyperlipidemia ISO RGD:1620890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24502637 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:1168 familial hyperlipidemia susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:SNP::2677G>T/A(rs2032582)(human) PMID:26922556|REF_RGD_ID:11574565 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:11832 visual epilepsy ISO RGD:619951 D RGD:9068941 20200609 RGD Audiogenic Seizures;mRNA:increased expression:cerebral cortex, midbrain (rat) PMID:12423380|REF_RGD_ID:8657333 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:1227 neutropenia ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16950614|PMID:25007187 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:12365 malaria ISO RGD:730823 D RGD:9068941 20201008 RGD DNA:hypermethylation:promoter PMID:19331170|REF_RGD_ID:39457680 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:12365 malaria susceptibility ISO RGD:730823 D RGD:9068941 20201008 RGD DNA:SNPs,haplotype: :rs2032582, rs1128503 (human) PMID:28422980|REF_RGD_ID:39457679 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:12365 malaria treatment ISO RGD:730823 D RGD:9068941 20201008 RGD DNA:SNP: :c3435C>T(human) PMID:28934955|REF_RGD_ID:39456120 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:12365 malaria treatment ISO RGD:730823 D RGD:9068941 20201008 RGD DNA:haplotype: :1236C>T, 2677G>T,3435C>T (human) PMID:17015054|REF_RGD_ID:39456123 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:13241 Behcet's disease ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human) PMID:22705826|REF_RGD_ID:8657073 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:13250 diarrhea ISO RGD:1620890 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32387182 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:13548 secondary Parkinson disease ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457621 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:14330 Parkinson's disease ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20558393 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:14566 disease of cellular proliferation ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22269388 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:150 disease of mental health ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17015054 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:1682 congenital heart disease ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23874772 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:1824 status epilepticus ISO RGD:1620890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14706787 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:1826 epilepsy ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19570321|PMID:8001500 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:1826 epilepsy ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:SNP: :3435C>T (human) PMID:12686700|REF_RGD_ID:1358366 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:1826 epilepsy treatment ISO RGD:619951 D RGD:9068941 20200609 RGD PMID:28303499|REF_RGD_ID:13524859 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:730823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:2154 nephroblastoma disease_progression ISO RGD:730823 D RGD:9068941 20200609 RGD PMID:11888090|REF_RGD_ID:2315560 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:730823 D RGD:9068941 20200609 RGD PMID:19603017|REF_RGD_ID:2315556 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:2841 asthma ISO RGD:730823 D RGD:9068941 20200609 RGD protein:increased expression:blood, lymphocyte PMID:19484671|REF_RGD_ID:4890020 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:2917 cryoglobulinemia susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD associated with hepatitis C;DNA:SNP: :3435C>T(human) PMID:28453396|REF_RGD_ID:14700902 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:2957 pulmonary tuberculosis treatment ISO RGD:730823 D RGD:9068941 20201002 RGD DNA:SNP: :2677G>A (human) PMID:26067842|REF_RGD_ID:11098541 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:2987 familial Mediterranean fever no_association ISO RGD:730823 D RGD:9068941 20201002 RGD PMID:23408444|REF_RGD_ID:39456097 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:2987 familial Mediterranean fever susceptibility ISO RGD:730823 D RGD:9068941 20201002 RGD DNA:SNP,haplotype:exon:3435C>T(human) PMID:24773260|REF_RGD_ID:39456095 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:2987 familial Mediterranean fever treatment ISO RGD:730823 D RGD:9068941 20201002 RGD DNA:SNP: :3435C>T(human) PMID:17610314|REF_RGD_ID:39456094 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:730823 D RGD:9068941 20200609 RGD PMID:19879256|REF_RGD_ID:2315549 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:305 carcinoma ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21332314 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus (rat) PMID:15380564|REF_RGD_ID:1358367 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:3602 toxic encephalopathy IAGP D RGD:12801476 20230322 OMIA Multidrug resistance 1, ABCB1-related PMID:15932411|PMID:14627096|PMID:15289602|PMID:14765742|PMID:15975717|PMID:16594604|PMID:16343287|PMID:16327220|PMID:15305851|PMID:12774979|PMID:12559367|PMID:11939306|PMID:11692082|PMID:18605373|PMID:18557525|PMID:17877579|PMID:17803743|PMID:17644437|PMID:17199425|PMID:18922637|PMID:20655253|PMID:19733104|PMID:19171022|PMID:19152588|PMID:20391637|PMID:20043790|PMID:21488961|PMID:21113104|PMID:18795852|PMID:22329447|PMID:22362942|PMID:22735986|PMID:22039792|PMID:2345955|PMID:3592367|PMID:10803640|PMID:6368862|PMID:7768734|PMID:2475964|PMID:1917657|PMID:24302812|PMID:24332606|PMID:26153274|PMID:27387721|PMID:27525650|PMID:30020547|PMID:31113564|PMID:31711409|PMID:31685133|PMID:30139545|PMID:35017851|PMID:8647944|PMID:28061549|PMID:31555677|PMID:36037240|PMID:31743433|PMID:36326478|PMID:36786530|PMID:36924353 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:3602 toxic encephalopathy susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: 3435T>C(human) PMID:17938643|REF_RGD_ID:11081146 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730823 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer PMID:10716719|PMID:11502320|PMID:12686700|PMID:15452305|PMID:15452306|PMID:15805193|PMID:17185560|PMID:22296372 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:SNPs: :2677G>T, 3435C>T(human) PMID:17534875|REF_RGD_ID:11080964 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:3948 adrenocortical carcinoma ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12015757 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:4450 renal cell carcinoma ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:polymorphism: :3435C>T (human) PMID:12089380|REF_RGD_ID:2315559 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:730823 D RGD:9068941 20200609 RGD PMID:17177989|REF_RGD_ID:2315557 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:4481 allergic rhinitis severity ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:snp:exon:c.1236C>T (human) PMID:24040855|REF_RGD_ID:8657076 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:730823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:altered expression:brain, heart, kidney (rat) PMID:24472536|REF_RGD_ID:11041168 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:526 human immunodeficiency virus infectious disease severity ISO RGD:730823 D RGD:9068941 20201002 RGD PMID:27334660|REF_RGD_ID:39456096 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:730823 D RGD:9068941 20201002 RGD DNA:SNPs: :4036A>G, 1236C>T (human) PMID:23133441|REF_RGD_ID:39456100 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25275603 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:557 kidney disease ISO RGD:1620890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24502637 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:730823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:574 peripheral nervous system disease ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16950614 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:6225 Cronkhite-Canada syndrome ISO RGD:1620890 D RGD:9068941 20200609 RGD mRNA:increased expression:small intestine (mouse) PMID:12615699|REF_RGD_ID:8657097 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:630 genetic disease ISO RGD:730823 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:635 acquired immunodeficiency syndrome treatment ISO RGD:730823 D RGD:9068941 20201008 RGD DNA:SNP: : rs10276036(human) PMID:24517233|REF_RGD_ID:11098698 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:635 acquired immunodeficiency syndrome treatment ISO RGD:730823 D RGD:9068941 20201008 RGD DNA:haplotype: :3435T>C((rs1045642), 2677T>G (rs2032582) (human) PMID:23372834|REF_RGD_ID:39456119 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:619951 D RGD:9068941 20200609 RGD PMID:25625052|REF_RGD_ID:11041138 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17510421 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:polymorphism: : c.1465C > T(human) PMID:23488625|REF_RGD_ID:14700904 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.3751G>A(human) PMID:24175826|REF_RGD_ID:14700905 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:7148 rheumatoid arthritis ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20080907|PMID:22104130 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:769 neuroblastoma ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8761367 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:783 end stage renal disease ISO RGD:619951 D RGD:9068941 20200609 RGD PMID:17135344|REF_RGD_ID:2301067 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :3435C>T (human) PMID:26250462|REF_RGD_ID:11081180 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:SNPs: :1236T>C,2677G>A(human) PMID:24581936|REF_RGD_ID:11081178 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:8577 ulcerative colitis susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD PMID:15505619|REF_RGD_ID:1598568 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:863 nervous system disease ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17015054|PMID:21064136 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:8677 perinatal necrotizing enterocolitis susceptibility ISO RGD:1620890 D RGD:9068941 20200609 RGD PMID:21788941|REF_RGD_ID:8657143 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:8778 Crohn's disease susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD PMID:15505619|REF_RGD_ID:1598568 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9000046 Poisoning ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23562926 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21332314 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22311042 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms disease_progression ISO RGD:730823 D RGD:9068941 20200609 RGD PMID:9713510|REF_RGD_ID:2315562 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9000641 Pain ISO RGD:1620890 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28193520 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9000740 ST Elevation Myocardial Infarction treatment ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1045642,rs7779562(human) PMID:25217066|REF_RGD_ID:14700903 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9000918 Disease Progression ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20627363 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12015757 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9001371 Eosinophilia ISO RGD:730823 D RGD:9068941 20200609 RGD associated with Chronic Rhinosinusitis;protein:increased expression:mucosa of ethmoidal sinus (human) PMID:24717943|REF_RGD_ID:8657092 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9001472 Nasal Polyps ISO RGD:730823 D RGD:9068941 20200609 RGD associated with Chronic Rhinosinusitis;protein:increased expression:nasal sinus (human) PMID:22223515|REF_RGD_ID:8657074 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1620890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16182555 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9001827 Critical Illness treatment ISO RGD:730823 D RGD:9068941 20201002 RGD DNA:SNP:exon:3435C>T(human) PMID:29979333|REF_RGD_ID:39456099 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:increased expression:placenta PMID:16225763|REF_RGD_ID:2306659 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22311042 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9002457 Experimental Arthritis ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:altered expression:liver PMID:19152228|REF_RGD_ID:2315573 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9002457 Experimental Arthritis ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:decreased expression:intestinal mucosa (rat) PMID:17827786|REF_RGD_ID:11040994 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9002457 Experimental Arthritis ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17827786 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:730823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:16467099 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9002953 Escherichia Coli Infections ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24498193 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9003971 Postoperative Pain ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20627697 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1620890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22749977 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:SNP::2677G>T/A(rs2032582)(human) PMID:26922556|REF_RGD_ID:11574565 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:SNP: :3435C>T(human) PMID:29155127|REF_RGD_ID:14700907 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD Breast Neoplasms;DNA:SNP: :3435 C>T(human) PMID:22271208|REF_RGD_ID:11081001 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP: :2677G>T(human) PMID:17534875|REF_RGD_ID:11080964 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNPs:rs1045642,rs1128503(human) PMID:25007187|REF_RGD_ID:11080979 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9004751 Nausea ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21840870 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1620890 D RGD:9068941 20200609 RGD PMID:19654309|REF_RGD_ID:2315553 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9005372 Inflammation ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:decreased expression:jejunum, ileum, intestinal mucosa (rat) PMID:24515798|REF_RGD_ID:11041153 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:17664251|REF_RGD_ID:2312730 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619951 D RGD:9068941 20200609 RGD protein: decreased expression PMID:17074306|REF_RGD_ID:1598559 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9005643 Experimental Diabetes Mellitus disease_progression ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum, intestinal mucosa (rat) PMID:26460146|REF_RGD_ID:11041112 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:619951 D RGD:9068941 20200609 RGD PMID:21685928|REF_RGD_ID:8657121 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9005930 Endotoxemia ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:26977098|REF_RGD_ID:11041000 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9005950 Orthostatic Hypotension ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12082591 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9006532 Hematologic Neoplasms ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22311042 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1620890 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:24502637|PMID:28193520|PMID:32387182 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18381794|PMID:20563569|PMID:21064136|PMID:25007187 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1620890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26134275 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:1620890 D RGD:9068941 20200609 RGD PMID:26134275|REF_RGD_ID:11041130 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:SNP::2677G>T/A(rs2032582)(human) PMID:27296832|REF_RGD_ID:14700895 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9007432 Latent Tuberculosis ISO RGD:730823 D RGD:9068941 20210212 RGD mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human) PMID:29602771|REF_RGD_ID:41404732 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9007659 Anthracycline-induced Cardiotoxicity susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G671V (human) PMID:16330681|REF_RGD_ID:11041175 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9007973 Genetic Translocation ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21325069 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9008114 Helicobacter Infections no_association ISO RGD:730823 D RGD:9068941 20201008 RGD DNA:haplotype: :3435T> C,2677T>G ,1236C>T (human) PMID:27611887|REF_RGD_ID:39456122 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9008114 Helicobacter Infections sexual_dimorphism ISO RGD:730823 D RGD:9068941 20201008 RGD associated with peptic ulcer disease;DNA:SNP: :3435C>T(human) PMID:22001987|REF_RGD_ID:39456093 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9008385 Vomiting ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21840870 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766|PMID:23977225 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22311042 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:polymorphism: :3435C>T (human) PMID:19752884|REF_RGD_ID:2315550 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:polymorphism:exon (human) PMID:19470683|REF_RGD_ID:2312331 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9505 cannabis abuse ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19625010 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9588 encephalitis ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain, liver (rat) PMID:12746221|REF_RGD_ID:8657083 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22674224 12063362 ABCB1 ATP binding cassette subfamily B member 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:snps, haplotype:multiple (human) PMID:22674224|REF_RGD_ID:8657089 12063399 MITD1 microtubule interacting and trafficking domain containing 1 gene DOID:630 genetic disease ISO RGD:1602187 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25326635|PMID:25741868|PMID:31042466|PMID:35388219 12063399 MITD1 microtubule interacting and trafficking domain containing 1 gene DOID:9001276 Failure to Thrive ISO RGD:1602187 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 12063399 MITD1 microtubule interacting and trafficking domain containing 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1602187 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 12063399 MITD1 microtubule interacting and trafficking domain containing 1 gene DOID:9004538 Hearing Loss ISO RGD:1602187 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 12063399 MITD1 microtubule interacting and trafficking domain containing 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1602187 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 12063399 MITD1 microtubule interacting and trafficking domain containing 1 gene DOID:9008121 Lipoyltransferase 1 Deficiency ISO RGD:1602187 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency PMID:17570395|PMID:24256811|PMID:24341803|PMID:25326635|PMID:25741868|PMID:25787132|PMID:27247813|PMID:28492532|PMID:31042466|PMID:33531667|PMID:34440436|PMID:35388219 12063410 DLGAP3 DLG associated protein 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12063427 SLC25A4 solute carrier family 25 member 4 gene DOID:0080130 mitochondrial DNA depletion syndrome 12a ISO RGD:732748 D RGD:7240710 20190315 OMIM 12063427 SLC25A4 solute carrier family 25 member 4 gene DOID:0080130 mitochondrial DNA depletion syndrome 12a ISO RGD:732748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant PMID:25741868|PMID:27693233 12063427 SLC25A4 solute carrier family 25 member 4 gene DOID:0080335 mitochondrial DNA depletion syndrome 12b ISO RGD:732748 D RGD:7240710 20180130 OMIM 12063427 SLC25A4 solute carrier family 25 member 4 gene DOID:0080335 mitochondrial DNA depletion syndrome 12b ISO RGD:732748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive PMID:16155110|PMID:21549803|PMID:22187496|PMID:22497660|PMID:25732997|PMID:25741868|PMID:27693233|PMID:28492532|PMID:7609449|PMID:8479824 12063427 SLC25A4 solute carrier family 25 member 4 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:732748 D RGD:9068941 20200609 RGD PMID:12056860|REF_RGD_ID:9681470 12063427 SLC25A4 solute carrier family 25 member 4 gene DOID:0111517 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 ISO RGD:732748 D RGD:7240710 20180130 OMIM 12063427 SLC25A4 solute carrier family 25 member 4 gene DOID:0111517 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 ISO RGD:732748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 PMID:10364542|PMID:10926541|PMID:11756613|PMID:12112115|PMID:16155110|PMID:21549803|PMID:22497660|PMID:25741868|PMID:26467025|PMID:27693233|PMID:28492532|PMID:8644740 12063427 SLC25A4 solute carrier family 25 member 4 gene DOID:10003 sensorineural hearing loss ISO RGD:732748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:16155110|PMID:21549803|PMID:22497660|PMID:25741868|PMID:27693233 12063427 SLC25A4 solute carrier family 25 member 4 gene DOID:10652 Alzheimer's disease ISO RGD:732748 D RGD:9068941 20200609 RGD PMID:21958963|REF_RGD_ID:9681463 12063427 SLC25A4 solute carrier family 25 member 4 gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:732748 D RGD:9068941 20200609 RGD PMID:15551024|REF_RGD_ID:1580621 12063427 SLC25A4 solute carrier family 25 member 4 gene DOID:11830 myopia ISO RGD:732748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myopia PMID:16155110|PMID:21549803|PMID:22497660|PMID:25741868|PMID:27693233 12063427 SLC25A4 solute carrier family 25 member 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16155110|PMID:21549803|PMID:22497660|PMID:25741868|PMID:27693233 12063427 SLC25A4 solute carrier family 25 member 4 gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:732748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions 12063427 SLC25A4 solute carrier family 25 member 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:732748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 12063427 SLC25A4 solute carrier family 25 member 4 gene DOID:12935 alcoholic cardiomyopathy ISO RGD:620352 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:myocardium PMID:21169901|REF_RGD_ID:9681464 12063427 SLC25A4 solute carrier family 25 member 4 gene DOID:397 restrictive cardiomyopathy ISO RGD:732748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:25741868|PMID:28492532 12063427 SLC25A4 solute carrier family 25 member 4 gene DOID:630 genetic disease ISO RGD:732748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:27693233|PMID:28492532 12063427 SLC25A4 solute carrier family 25 member 4 gene DOID:699 mitochondrial myopathy ISO RGD:732748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial Myopathies PMID:16155110|PMID:21549803|PMID:22497660|PMID:25741868|PMID:27693233 12063427 SLC25A4 solute carrier family 25 member 4 gene DOID:700 mitochondrial metabolism disease ISO RGD:732748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:27693233 12063427 SLC25A4 solute carrier family 25 member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12063427 SLC25A4 solute carrier family 25 member 4 gene DOID:9003936 Cardiomegaly treatment ISO RGD:620352 D RGD:9068941 20200609 RGD associated with Hypertension PMID:17210842|REF_RGD_ID:9681469 12063427 SLC25A4 solute carrier family 25 member 4 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:732748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:16155110|PMID:21549803|PMID:22497660|PMID:25741868|PMID:27693233 12063427 SLC25A4 solute carrier family 25 member 4 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:732748 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18945756 12063427 SLC25A4 solute carrier family 25 member 4 gene DOID:9007346 Cachexia ISO RGD:620352 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma PMID:23200745|REF_RGD_ID:13782066 12063427 SLC25A4 solute carrier family 25 member 4 gene DOID:9007736 Vertigo ISO RGD:732748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Vertigo PMID:16155110|PMID:21549803|PMID:22497660|PMID:25741868|PMID:27693233 12063427 SLC25A4 solute carrier family 25 member 4 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:620352 D RGD:9068941 20200609 RGD PMID:24126566|REF_RGD_ID:9681554 12063427 SLC25A4 solute carrier family 25 member 4 gene DOID:9007925 Sudden Cardiac Death ISO RGD:732748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Family history of sudden cardiac death PMID:25741868|PMID:28492532 12063427 SLC25A4 solute carrier family 25 member 4 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:732748 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 12063435 LAMB1 laminin subunit beta 1 gene DOID:0050453 lissencephaly ISO RGD:1314859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12063435 LAMB1 laminin subunit beta 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1314859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12063435 LAMB1 laminin subunit beta 1 gene DOID:0112230 lissencephaly 5 ISO RGD:1314859 D RGD:7240710 20180130 OMIM 12063435 LAMB1 laminin subunit beta 1 gene DOID:0112230 lissencephaly 5 ISO RGD:1314859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly 5 PMID:23472759|PMID:25326635|PMID:25741868|PMID:25925986|PMID:28492532 12063435 LAMB1 laminin subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:1314859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12063435 LAMB1 laminin subunit beta 1 gene DOID:12270 coloboma ISO RGD:1314859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18809619 12063435 LAMB1 laminin subunit beta 1 gene DOID:12849 autistic disorder ISO RGD:1314859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15523497 12063435 LAMB1 laminin subunit beta 1 gene DOID:12849 autistic disorder ISO RGD:1314859 D RGD:9068941 20200609 RGD PMID:15523497|REF_RGD_ID:1624317 12063435 LAMB1 laminin subunit beta 1 gene DOID:289 endometriosis ISO RGD:1314859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12063435 LAMB1 laminin subunit beta 1 gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:1314859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency PMID:25741868|PMID:28492532 12063435 LAMB1 laminin subunit beta 1 gene DOID:3652 Leigh disease ISO RGD:1314859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:28492532 12063435 LAMB1 laminin subunit beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1314859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28444932 12063435 LAMB1 laminin subunit beta 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12063435 LAMB1 laminin subunit beta 1 gene DOID:630 genetic disease ISO RGD:1314859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12063435 LAMB1 laminin subunit beta 1 gene DOID:8577 ulcerative colitis ISO RGD:1314859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19915572 12063435 LAMB1 laminin subunit beta 1 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1314859 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:28492532 12063435 LAMB1 laminin subunit beta 1 gene DOID:9269 maple syrup urine disease ISO RGD:1314859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:25741868|PMID:28492532 12063470 GULP1 GULP PTB domain containing engulfment adaptor 1 gene DOID:50 thyroid gland disease ISO RGD:1314963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 12063470 GULP1 GULP PTB domain containing engulfment adaptor 1 gene DOID:630 genetic disease ISO RGD:1314963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063470 GULP1 GULP PTB domain containing engulfment adaptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12063470 GULP1 GULP PTB domain containing engulfment adaptor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12063515 CDK5RAP3 CDK5 regulatory subunit associated protein 3 gene DOID:630 genetic disease ISO RGD:731437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063533 CETN2 centrin 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12063533 CETN2 centrin 2 gene DOID:12849 autistic disorder ISO RGD:736112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12063533 CETN2 centrin 2 gene DOID:630 genetic disease ISO RGD:736112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:0050742 nicotine dependence ISO RGD:734445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20372150 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:0050742 nicotine dependence severity ISO RGD:734445 D RGD:9068941 20211203 RGD associated with smoking; DNA:SNP::rs16969968 (human) PMID:29993116|REF_RGD_ID:150526806 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:0050742 nicotine dependence susceptibility ISO RGD:734445 D RGD:9068941 20211203 RGD DNA:SNP: :rs16969968(human) PMID:19706762|REF_RGD_ID:150524362 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:0050742 nicotine dependence susceptibility ISO RGD:734445 D RGD:9068941 20211203 RGD DNA:SNP:intron:rs17486278(human) PMID:20587604|REF_RGD_ID:150527839 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:0060001 withdrawal disorder ISO RGD:734445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18184829 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:1324 lung cancer ISO RGD:734445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer susceptibility 2 PMID:18385738|PMID:18385739|PMID:18618000|PMID:19132693|PMID:19443489|PMID:19706762|PMID:20485328|PMID:20643934|PMID:20840187|PMID:20886544|PMID:21418140|PMID:22046326|PMID:22648373|PMID:22992668|PMID:24733007|PMID:27355804|PMID:29196725|PMID:29621993|PMID:29666375|PMID:30453884|PMID:31402126|PMID:31796940 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:734445 D RGD:7240710 20230505 OMIM 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:1574 alcohol use disorder ISO RGD:734445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18414406 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:1749 squamous cell carcinoma ISO RGD:734445 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:2030 anxiety disorder ISO RGD:734445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19220484|PMID:29944862 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:2717 Bloom syndrome ISO RGD:734445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:303 substance-related disorder ISO RGD:734445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20438829 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:734445 D RGD:9068941 20211203 RGD associated with lung cancer; DNA:SNP::rs16969968 (human) PMID:33419953|REF_RGD_ID:150524357 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:734445 D RGD:9068941 20211203 RGD associated with smoking; DNA:SNP::rs16969968 (human) PMID:29993116|REF_RGD_ID:150526806 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:734445 D RGD:9068941 20220224 RGD mRNA:increased expression:esophagus (human) PMID:27610024|REF_RGD_ID:151361143 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:734445 D RGD:9068941 20211203 RGD DNA:SNP: :rs667282(human) PMID:23844051|REF_RGD_ID:150524358 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3907 lung squamous cell carcinoma ISO RGD:734445 D RGD:9068941 20211203 RGD mRNA:increased expression:lung PMID:20124469|REF_RGD_ID:150527851 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:734445 D RGD:9068941 20211203 RGD DNA:SNP: :rs503464(human) PMID:23314339|REF_RGD_ID:150527849 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:734445 D RGD:9068941 20211203 RGD DNA:SNP: :rs667282(human) PMID:27050379|REF_RGD_ID:150527847 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3910 lung adenocarcinoma ISO RGD:734445 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:734445 D RGD:9068941 20211203 RGD DNA:SNP:cds: p.D398N(human) PMID:19577767|REF_RGD_ID:150524359 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:734445 D RGD:9068941 20211203 RGD DNA:SNP: :rs503464(human) PMID:23314339|REF_RGD_ID:150527849 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:734445 D RGD:9068941 20211203 RGD associated with smoking; DNA:SNPs: :rs2036527, rs684513, rs667282(human) PMID:20554942|REF_RGD_ID:150527848 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:4556 lung large cell carcinoma ISO RGD:734445 D RGD:9068941 20211203 RGD mRNA:increased expression:lung PMID:20124469|REF_RGD_ID:150527851 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:5409 lung small cell carcinoma ISO RGD:734445 D RGD:9068941 20211203 RGD mRNA:increased expression:lung PMID:20124469|REF_RGD_ID:150527851 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:630 genetic disease ISO RGD:734445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:809 cocaine abuse onset ISO RGD:734445 D RGD:9068941 20211210 RGD DNA:SNP:exon:rs16969968(human) PMID:32841724|REF_RGD_ID:150530292 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2347 D RGD:9068941 20211210 RGD protein:increased expression:spinal nerve PMID:15652389|REF_RGD_ID:150530460 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:9001310 Tobacco Use Disorder ISO RGD:734445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18414406|PMID:18519132|PMID:28472521 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:9002211 Hyperalgesia ameliorates ISO RGD:2347 D RGD:9068941 20211210 RGD PMID:15652389|REF_RGD_ID:150530460 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:9005172 Lung Neoplasms ISO RGD:734445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18385738 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:9256 colorectal cancer ISO RGD:734445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12063542 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:734445 D RGD:9068941 20211203 RGD DNA:SNP: :rs3841324(human) PMID:25329654|REF_RGD_ID:150527838 12063551 EVA1A eva-1 homolog A, regulator of programmed cell death gene DOID:630 genetic disease ISO RGD:1604577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063579 LBX2 ladybird homeobox 2 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1347358 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12063579 LBX2 ladybird homeobox 2 gene DOID:543 dystonia ISO RGD:1347358 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12063579 LBX2 ladybird homeobox 2 gene DOID:630 genetic disease ISO RGD:1347358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063579 LBX2 ladybird homeobox 2 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1347358 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12063585 ABTB2 ankyrin repeat and BTB domain containing 2 gene DOID:1059 intellectual disability ISO RGD:733617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12063585 ABTB2 ankyrin repeat and BTB domain containing 2 gene DOID:630 genetic disease ISO RGD:733617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063637 CILP2 cartilage intermediate layer protein 2 gene DOID:630 genetic disease ISO RGD:1322465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063650 FRAT1 frequently rearranged in advanced T-cell lymphomas gene DOID:630 genetic disease ISO RGD:1604648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063654 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:735560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12063654 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:37 skin disease ISO RGD:735560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12063654 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:3978 extrinsic cardiomyopathy ISO RGD:735561 D RGD:9068941 20220825 MouseDO 12063654 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:5419 schizophrenia ISO RGD:735560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12063654 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:630 genetic disease ISO RGD:735560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063654 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:9004610 Acute Lung Injury ISO RGD:735561 D RGD:9068941 20210212 RGD associated with Endotoxemia;mRNA, protein:increased expression:lung (mouse) PMID:31167111|REF_RGD_ID:41410778 12063654 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:735560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12063654 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:9007964 Arsenic Poisoning ISO RGD:735560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12063654 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:9970 obesity ISO RGD:735560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12063684 SLC45A3 solute carrier family 45 member 3 gene DOID:0080600 COVID-19 ISO RGD:1346444 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12063684 SLC45A3 solute carrier family 45 member 3 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1346444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12063684 SLC45A3 solute carrier family 45 member 3 gene DOID:12849 autistic disorder ISO RGD:1346444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12063684 SLC45A3 solute carrier family 45 member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1346444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12063684 SLC45A3 solute carrier family 45 member 3 gene DOID:3307 teratoma ISO RGD:1346444 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 12063684 SLC45A3 solute carrier family 45 member 3 gene DOID:630 genetic disease ISO RGD:1346444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063684 SLC45A3 solute carrier family 45 member 3 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1346444 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12063684 SLC45A3 solute carrier family 45 member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12063701 UNC5A unc-5 netrin receptor A gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1344019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12063701 UNC5A unc-5 netrin receptor A gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1344019 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12063701 UNC5A unc-5 netrin receptor A gene DOID:0112103 Sotos syndrome 1 ISO RGD:1344019 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 12063701 UNC5A unc-5 netrin receptor A gene DOID:630 genetic disease ISO RGD:1344019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063701 UNC5A unc-5 netrin receptor A gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1344019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12063701 UNC5A unc-5 netrin receptor A gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1344019 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 12063730 NPR1 natriuretic peptide receptor 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:732882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12063730 NPR1 natriuretic peptide receptor 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12063730 NPR1 natriuretic peptide receptor 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12063730 NPR1 natriuretic peptide receptor 1 gene DOID:10763 hypertension ISO RGD:3195 D RGD:9068941 20200609 RGD DNA:repeat:promoter: (rat) PMID:12511524|REF_RGD_ID:628585 12063730 NPR1 natriuretic peptide receptor 1 gene DOID:10763 hypertension ISO RGD:732882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20881240 12063730 NPR1 natriuretic peptide receptor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:732882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12063730 NPR1 natriuretic peptide receptor 1 gene DOID:5199 ureteral obstruction ISO RGD:11007 D RGD:9068941 20200609 RGD PMID:19223006|REF_RGD_ID:7247722 12063730 NPR1 natriuretic peptide receptor 1 gene DOID:557 kidney disease ISO RGD:732882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20881240 12063730 NPR1 natriuretic peptide receptor 1 gene DOID:5812 MHC class II deficiency ISO RGD:732882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12063730 NPR1 natriuretic peptide receptor 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:732882 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.M341I (human) PMID:14646971|REF_RGD_ID:1580174 12063730 NPR1 natriuretic peptide receptor 1 gene DOID:6000 congestive heart failure ISO RGD:11007 D RGD:9068941 20200609 RGD associated with Hypertension PMID:9405681|REF_RGD_ID:737701 12063730 NPR1 natriuretic peptide receptor 1 gene DOID:6000 congestive heart failure ISO RGD:11007 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:17264312|REF_RGD_ID:7247730 12063730 NPR1 natriuretic peptide receptor 1 gene DOID:6000 congestive heart failure ISO RGD:732882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20881240 12063730 NPR1 natriuretic peptide receptor 1 gene DOID:630 genetic disease ISO RGD:732882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063730 NPR1 natriuretic peptide receptor 1 gene DOID:9000641 Pain ISO RGD:732882 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27687165 12063730 NPR1 natriuretic peptide receptor 1 gene DOID:9000784 Fibrosis ISO RGD:732882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20881240 12063730 NPR1 natriuretic peptide receptor 1 gene DOID:9003936 Cardiomegaly ISO RGD:11007 D RGD:9068941 20200609 RGD associated with Hypertension PMID:9405681|REF_RGD_ID:737701 12063730 NPR1 natriuretic peptide receptor 1 gene DOID:9003936 Cardiomegaly ISO RGD:732882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20881240 12063730 NPR1 natriuretic peptide receptor 1 gene DOID:9004080 Aortic Rupture ISO RGD:11007 D RGD:9068941 20200609 RGD associated with Hypertension PMID:9405681|REF_RGD_ID:737701 12063730 NPR1 natriuretic peptide receptor 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3195 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:16272201|REF_RGD_ID:1580154 12063730 NPR1 natriuretic peptide receptor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12063764 ZBTB26 zinc finger and BTB domain containing 26 gene DOID:630 genetic disease ISO RGD:1318405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063777 VGLL3 vestigial like family member 3 gene DOID:630 genetic disease ISO RGD:1602804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063783 P3H4 prolyl 3-hydroxylase family member 4 (inactive) gene DOID:630 genetic disease ISO RGD:732924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063795 SDF2L1 stromal cell derived factor 2 like 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1320780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 12063795 SDF2L1 stromal cell derived factor 2 like 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1320780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 12063795 SDF2L1 stromal cell derived factor 2 like 1 gene DOID:630 genetic disease ISO RGD:1320780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063795 SDF2L1 stromal cell derived factor 2 like 1 gene DOID:8778 Crohn's disease ISO RGD:1320780 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 12063795 SDF2L1 stromal cell derived factor 2 like 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12063795 SDF2L1 stromal cell derived factor 2 like 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:1320780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12063795 SDF2L1 stromal cell derived factor 2 like 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1585844 D RGD:9068941 20200609 RGD DNA:deletion:exons, introns:g.3_910del (rat) PMID:27463508|REF_RGD_ID:11528530 12063803 SIRPA signal regulatory protein alpha gene DOID:0060071 pre-malignant neoplasm ISO RGD:736759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12063803 SIRPA signal regulatory protein alpha gene DOID:630 genetic disease ISO RGD:736759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063821 PDF peptide deformylase, mitochondrial gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12063821 PDF peptide deformylase, mitochondrial gene DOID:0070260 congenital disorder of glycosylation type IIh ISO RGD:1605961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COG8-CDG PMID:25741868 12063821 PDF peptide deformylase, mitochondrial gene DOID:5212 congenital disorder of glycosylation ISO RGD:1605961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 12063821 PDF peptide deformylase, mitochondrial gene DOID:630 genetic disease ISO RGD:1605961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063827 ATXN7L3 ataxin 7 like 3 gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1342958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 12063827 ATXN7L3 ataxin 7 like 3 gene DOID:630 genetic disease ISO RGD:1342958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063861 OR5AC26 olfactory receptor family 5 subfamily AC member 26 gene DOID:10283 prostate cancer ISO RGD:1349503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12063861 OR5AC26 olfactory receptor family 5 subfamily AC member 26 gene DOID:630 genetic disease ISO RGD:1349503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063871 ZNF775 zinc finger protein 775 gene DOID:2843 long QT syndrome ISO RGD:1603510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 12063871 ZNF775 zinc finger protein 775 gene DOID:630 genetic disease ISO RGD:1603510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063884 OTOL1 otolin 1 gene DOID:630 genetic disease ISO RGD:4140314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063924 PLEKHF2 pleckstrin homology and FYVE domain containing 2 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1323798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:24442880|PMID:28492532 12063924 PLEKHF2 pleckstrin homology and FYVE domain containing 2 gene DOID:630 genetic disease ISO RGD:1323798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063993 RNF115 ring finger protein 115 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1313271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 12063993 RNF115 ring finger protein 115 gene DOID:1540 parathyroid carcinoma ISO RGD:1313271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12063993 RNF115 ring finger protein 115 gene DOID:5419 schizophrenia ISO RGD:1313271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12063993 RNF115 ring finger protein 115 gene DOID:630 genetic disease ISO RGD:1313271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12063993 RNF115 ring finger protein 115 gene DOID:9008939 Breast Neoplasms ISO RGD:1313271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25751625 12063993 RNF115 ring finger protein 115 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12064012 SLC10A2 solute carrier family 10 member 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:736402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:28492532 12064012 SLC10A2 solute carrier family 10 member 2 gene DOID:14701 propionic acidemia ISO RGD:736402 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 12064012 SLC10A2 solute carrier family 10 member 2 gene DOID:1561 cognitive disorder ISO RGD:736402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 12064012 SLC10A2 solute carrier family 10 member 2 gene DOID:303 substance-related disorder ISO RGD:736402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12064012 SLC10A2 solute carrier family 10 member 2 gene DOID:5295 intestinal disease ISO RGD:736402 D RGD:9068941 20200609 RGD primary bile acid malabsorption; DNA:point mutation:exon:L243P, T262M PMID:9109432|REF_RGD_ID:1624186 12064012 SLC10A2 solute carrier family 10 member 2 gene DOID:630 genetic disease ISO RGD:736402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12064012 SLC10A2 solute carrier family 10 member 2 gene DOID:863 nervous system disease ISO RGD:736402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 12064012 SLC10A2 solute carrier family 10 member 2 gene DOID:9002661 Diabetes Complications ISO RGD:736402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 12064012 SLC10A2 solute carrier family 10 member 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:736402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12064012 SLC10A2 solute carrier family 10 member 2 gene DOID:9003880 Primary Bile Acid Malabsorption ISO RGD:736402 D RGD:9068941 20230511 CTD CTD Direct Evidence: marker/mechanism 12064012 SLC10A2 solute carrier family 10 member 2 gene DOID:9007940 Primary Bile Acid Malabsorption 1 ISO RGD:736402 D RGD:7240710 20210825 OMIM 12064012 SLC10A2 solute carrier family 10 member 2 gene DOID:9007940 Primary Bile Acid Malabsorption 1 ISO RGD:736402 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bile acid malabsorption, primary, 1 PMID:19823678|PMID:25741868|PMID:28492532|PMID:30919572|PMID:34192422 12064012 SLC10A2 solute carrier family 10 member 2 gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:736402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 12064020 ATXN10 ataxin 10 gene DOID:0050960 spinocerebellar ataxia type 10 ISO RGD:1351525 D RGD:7240710 20180130 OMIM 12064020 ATXN10 ataxin 10 gene DOID:0050960 spinocerebellar ataxia type 10 ISO RGD:1351525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 10 PMID:25741868 12064020 ATXN10 ataxin 10 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1351525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12064020 ATXN10 ataxin 10 gene DOID:1059 intellectual disability ISO RGD:1351525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12064020 ATXN10 ataxin 10 gene DOID:630 genetic disease ISO RGD:1351525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064020 ATXN10 ataxin 10 gene DOID:9002121 Spinocerebellar Ataxias susceptibility ISO RGD:1351525 D RGD:9068941 20200609 RGD DNA:repeat:intron 9 PMID:11017075|REF_RGD_ID:1599410 12064041 ARHGEF40 Rho guanine nucleotide exchange factor 40 gene DOID:10283 prostate cancer ISO RGD:1603998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12064041 ARHGEF40 Rho guanine nucleotide exchange factor 40 gene DOID:2661 myoepithelioma ISO RGD:1603998 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12064041 ARHGEF40 Rho guanine nucleotide exchange factor 40 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1603998 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12064041 ARHGEF40 Rho guanine nucleotide exchange factor 40 gene DOID:630 genetic disease ISO RGD:1603998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064041 ARHGEF40 Rho guanine nucleotide exchange factor 40 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1603998 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12064076 USP39 ubiquitin specific peptidase 39 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1317682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 12064076 USP39 ubiquitin specific peptidase 39 gene DOID:630 genetic disease ISO RGD:1317682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064076 USP39 ubiquitin specific peptidase 39 gene DOID:9002170 Experimental Neoplasms ISO RGD:1317682 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34822033 12064076 USP39 ubiquitin specific peptidase 39 gene DOID:9002928 Colonic Neoplasms ISO RGD:1317682 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34822033 12064093 HBP1 HMG-box transcription factor 1 gene DOID:0070261 congenital disorder of glycosylation type IIi ISO RGD:733921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COG5-CDG 12064093 HBP1 HMG-box transcription factor 1 gene DOID:0080600 COVID-19 ISO RGD:733921 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12064093 HBP1 HMG-box transcription factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12064093 HBP1 HMG-box transcription factor 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:733921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 12064093 HBP1 HMG-box transcription factor 1 gene DOID:630 genetic disease ISO RGD:733921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064093 HBP1 HMG-box transcription factor 1 gene DOID:8398 osteoarthritis ISO RGD:733921 D RGD:9068941 20200609 RGD PMID:22586168|REF_RGD_ID:10402054 12064112 OAT ornithine aminotransferase gene DOID:1415 gyrate atrophy ISO RGD:1350711 D RGD:7240710 20180130 OMIM 12064112 OAT ornithine aminotransferase gene DOID:1415 gyrate atrophy ISO RGD:1350711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ornithine aminotransferase deficiency PMID:10617919|PMID:11297489|PMID:12221166|PMID:1301936|PMID:1427882|PMID:1487247|PMID:15750329|PMID:1609808|PMID:1612597|PMID:16151897|PMID:1618792|PMID:16199547|PMID:1737786|PMID:17576681|PMID:1992472|PMID:22182799|PMID:2220818|PMID:22674428|PMID:2276738|PMID:23076989|PMID:24082780|PMID:24429551|PMID:2492100|PMID:25640679|PMID:2565038|PMID:25741868|PMID:26259030|PMID:27037922|PMID:2793865|PMID:27978498|PMID:28181551|PMID:28388263|PMID:28468868|PMID:28492532|PMID:2916581|PMID:29654911|PMID:29757052|PMID:30366948|PMID:30957963|PMID:31456290|PMID:3170546|PMID:33090715|PMID:3339136|PMID:3375240|PMID:3417397|PMID:34395527|PMID:7668253|PMID:7887415|PMID:8125717|PMID:8281144|PMID:8430317|PMID:8670789|PMID:9536098 12064112 OAT ornithine aminotransferase gene DOID:5723 optic atrophy ISO RGD:1350711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868 12064112 OAT ornithine aminotransferase gene DOID:630 genetic disease ISO RGD:1350711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12064112 OAT ornithine aminotransferase gene DOID:8501 fundus dystrophy ISO RGD:1350711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:1609808|PMID:16199547|PMID:1737786|PMID:22674428|PMID:23076989|PMID:25741868|PMID:28492532|PMID:3339136 12064112 OAT ornithine aminotransferase gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1350711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 12064112 OAT ornithine aminotransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12064112 OAT ornithine aminotransferase gene DOID:9007188 Liver Neoplasms ISO RGD:1350711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12064131 ALDOA aldolase, fructose-bisphosphate A gene DOID:0060019 coronin-1A deficiency ISO RGD:30308195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:28492532 12064131 ALDOA aldolase, fructose-bisphosphate A gene DOID:0060041 autism spectrum disorder ISO RGD:30308195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12064131 ALDOA aldolase, fructose-bisphosphate A gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:30308195 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12064131 ALDOA aldolase, fructose-bisphosphate A gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:30308195 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12064131 ALDOA aldolase, fructose-bisphosphate A gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:30308195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12064131 ALDOA aldolase, fructose-bisphosphate A gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:30308195 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12064131 ALDOA aldolase, fructose-bisphosphate A gene DOID:12849 autistic disorder ISO RGD:30308195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12064131 ALDOA aldolase, fructose-bisphosphate A gene DOID:1882 atrial heart septal defect ISO RGD:30308195 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12064131 ALDOA aldolase, fructose-bisphosphate A gene DOID:3910 lung adenocarcinoma ISO RGD:30308195 D RGD:9068941 20200625 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 12064131 ALDOA aldolase, fructose-bisphosphate A gene DOID:5419 schizophrenia ISO RGD:30308195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12064131 ALDOA aldolase, fructose-bisphosphate A gene DOID:630 genetic disease ISO RGD:30308195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064131 ALDOA aldolase, fructose-bisphosphate A gene DOID:9000965 Neoplasm Metastasis ISO RGD:30308195 D RGD:9068941 20200625 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 12064131 ALDOA aldolase, fructose-bisphosphate A gene DOID:9004009 Reperfusion Injury ISO RGD:2089 D RGD:9068941 20200609 RGD PMID:10395295|REF_RGD_ID:1599061 12064131 ALDOA aldolase, fructose-bisphosphate A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:30308195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12064131 ALDOA aldolase, fructose-bisphosphate A gene DOID:9004575 Neoplasm Invasiveness ISO RGD:30308195 D RGD:9068941 20200625 CTD CTD Direct Evidence: marker/mechanism PMID:15654357 12064131 ALDOA aldolase, fructose-bisphosphate A gene DOID:9005930 Endotoxemia ISO RGD:2089 D RGD:9068941 20200609 RGD PMID:16930621|REF_RGD_ID:1599054 12064131 ALDOA aldolase, fructose-bisphosphate A gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:30308195 D RGD:7240710 20200624 OMIM 12064131 ALDOA aldolase, fructose-bisphosphate A gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:30308195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE XII | ClinVar Annotator: match by term: GSD XII | ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:17576681|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25741868|PMID:2825199|PMID:28492532|PMID:8598869|PMID:9536098 12064131 ALDOA aldolase, fructose-bisphosphate A gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:30308195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12064131 ALDOA aldolase, fructose-bisphosphate A gene DOID:9006646 Metabolic Syndrome ISO RGD:2089 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:21890532|REF_RGD_ID:13673877 12064131 ALDOA aldolase, fructose-bisphosphate A gene DOID:9007102 Myocardial Ischemia ISO RGD:30308195 D RGD:9068941 20200625 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12064131 ALDOA aldolase, fructose-bisphosphate A gene DOID:9008939 Breast Neoplasms ISO RGD:30308195 D RGD:9068941 20200625 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 12064147 CCDC43 coiled-coil domain containing 43 gene DOID:630 genetic disease ISO RGD:1606980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064161 TXLNG taxilin gamma gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12064161 TXLNG taxilin gamma gene DOID:12849 autistic disorder ISO RGD:1347306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12064161 TXLNG taxilin gamma gene DOID:630 genetic disease ISO RGD:1347306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064161 TXLNG taxilin gamma gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12064175 SESN1 sestrin 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1316757 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 12064175 SESN1 sestrin 1 gene DOID:630 genetic disease ISO RGD:1316757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064193 ZNF703 zinc finger protein 703 gene DOID:630 genetic disease ISO RGD:1602208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064199 RPRD2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1601883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12064199 RPRD2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1601883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12064199 RPRD2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1601883 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12064199 RPRD2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1601883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12064199 RPRD2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:5812 MHC class II deficiency ISO RGD:1601883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12064199 RPRD2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:630 genetic disease ISO RGD:1601883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064199 RPRD2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1601883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12064199 RPRD2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12064222 RGL3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1320262 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12064222 RGL3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1320262 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12064222 RGL3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:0111254 glutaric acidemia I ISO RGD:1320262 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12064222 RGL3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:3413 alpha-mannosidosis ISO RGD:1320262 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12064222 RGL3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:630 genetic disease ISO RGD:1320262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064253 LOC485143 tripartite motif-containing protein 64 gene DOID:1059 intellectual disability ISO RGD:2311727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12064253 LOC485143 tripartite motif-containing protein 64 gene DOID:630 genetic disease ISO RGD:2311727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064264 FHIP1B FHF complex subunit HOOK interacting protein 1B gene DOID:10283 prostate cancer ISO RGD:1604775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12064264 FHIP1B FHF complex subunit HOOK interacting protein 1B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12064264 FHIP1B FHF complex subunit HOOK interacting protein 1B gene DOID:630 genetic disease ISO RGD:1604775 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064306 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1318099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:16199547|PMID:17576681|PMID:19525956|PMID:20358604|PMID:20653736|PMID:20842748|PMID:21102625|PMID:21204240|PMID:22174685|PMID:22461318|PMID:22691373|PMID:22973040|PMID:24033266|PMID:24183309|PMID:25604658|PMID:25741868|PMID:26467025|PMID:27604406|PMID:28229507|PMID:28492532|PMID:30275001|PMID:34492268|PMID:9536098 12064306 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:1883 hepatitis C ISO RGD:1318099 D RGD:9068941 20210730 RGD associated with hepatocellular carcinoma;DNA:insertion:exon 4: (human) PMID:24317272|REF_RGD_ID:149735572 12064306 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:1969 cerebral palsy ISO RGD:1318099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy 12064306 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:2043 hepatitis B ISO RGD:1318099 D RGD:9068941 20210730 RGD associated with hepatocellular carcinoma;DNA:insertion:exon 4: (human) PMID:24317272|REF_RGD_ID:149735572 12064306 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:2234 focal epilepsy ISO RGD:1318099 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12064306 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:630 genetic disease ISO RGD:1318099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12064306 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9000761 Deoxyguanosine Kinase Deficiency ISO RGD:1318099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26342080 12064306 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9004067 Chilblain Lupus 2 ISO RGD:1318099 D RGD:7240710 20180130 OMIM 12064306 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9004067 Chilblain Lupus 2 ISO RGD:1318099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chilblain lupus 2 PMID:19525956|PMID:20653736|PMID:21204240|PMID:22461318|PMID:22691373|PMID:22973040|PMID:24033266|PMID:25604658|PMID:25741868|PMID:26467025|PMID:27604406|PMID:28229507|PMID:28492532|PMID:30275001 12064306 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9005881 Chilblain Lupus 1 ISO RGD:1318099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27566796 12064306 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9006262 Cytomegalovirus Infections exacerbates ISO RGD:1318100 D RGD:9068941 20210723 RGD PMID:31548683|REF_RGD_ID:149735526 12064306 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1318099 D RGD:7240710 20180130 OMIM 12064306 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1318099 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:16199547|PMID:17576681|PMID:19525956|PMID:20131292|PMID:20358604|PMID:20653736|PMID:20842748|PMID:21102625|PMID:21204240|PMID:21402907|PMID:22174685|PMID:22461318|PMID:22691373|PMID:22973040|PMID:24033266|PMID:24035396|PMID:24183309|PMID:24300241|PMID:24316776|PMID:24989684|PMID:25604658|PMID:25640679|PMID:25741868|PMID:26273690|PMID:26431200|PMID:26467025|PMID:26504826|PMID:27604406|PMID:27643693|PMID:28229507|PMID:28454995|PMID:28492532|PMID:28851465|PMID:29239743|PMID:29379009|PMID:30275001|PMID:30487145|PMID:31130681|PMID:31797533|PMID:32371413|PMID:33683010|PMID:33857133|PMID:34492268|PMID:35590234|PMID:9536098 12064306 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9119 acute myeloid leukemia severity ISO RGD:1318099 D RGD:9068941 20210723 RGD human cell line in mouse model PMID:30474474|REF_RGD_ID:149735523 12064306 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9538 multiple myeloma ISO RGD:1318099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12064329 TM7SF3 transmembrane 7 superfamily member 3 gene DOID:630 genetic disease ISO RGD:1315548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064349 TRIM8 tripartite motif containing 8 gene DOID:0050701 electroclinical syndrome ISO RGD:1319835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TRIM8-related epileptic encephalopathy PMID:25741868|PMID:30244534|PMID:33508234 12064349 TRIM8 tripartite motif containing 8 gene DOID:1826 epilepsy ISO RGD:1319835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:30244534|PMID:32193649|PMID:33508234 12064349 TRIM8 tripartite motif containing 8 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1319835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:22508808|PMID:25403219|PMID:28492532|PMID:31639285 12064349 TRIM8 tripartite motif containing 8 gene DOID:630 genetic disease ISO RGD:1319835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30244534|PMID:33508234 12064349 TRIM8 tripartite motif containing 8 gene DOID:9001434 Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome ISO RGD:1319835 D RGD:7240710 20210818 OMIM 12064349 TRIM8 tripartite motif containing 8 gene DOID:9001434 Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome ISO RGD:1319835 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis and neurodevelopmental syndrome PMID:25741868|PMID:27346735|PMID:30244534|PMID:32193649|PMID:32531461|PMID:33508234|PMID:34930159 12064359 GATA3 GATA binding protein 3 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 12064359 GATA3 GATA binding protein 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:733638 D RGD:7240710 20180130 OMIM 12064359 GATA3 GATA binding protein 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:733638 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:10935639|PMID:11389161|PMID:14985365|PMID:15705923|PMID:16199547|PMID:16912130|PMID:17210674|PMID:17309062|PMID:17576681|PMID:18621058|PMID:19057839|PMID:19248180|PMID:19253381|PMID:21120445|PMID:21242646|PMID:21834031|PMID:23052618|PMID:23142663|PMID:23435732|PMID:24033266|PMID:24728327|PMID:25137426|PMID:25741868|PMID:25741912|PMID:26282285|PMID:26316437|PMID:26467025|PMID:26514990|PMID:27387476|PMID:28492532|PMID:28566604|PMID:30143558|PMID:30311386|PMID:30396722|PMID:30534854|PMID:31433868|PMID:32442337|PMID:33120464|PMID:35802133|PMID:36633841|PMID:9536098 12064359 GATA3 GATA binding protein 3 gene DOID:0080205 CAKUT ISO RGD:733638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 12064359 GATA3 GATA binding protein 3 gene DOID:0080600 COVID-19 ISO RGD:733638 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12064359 GATA3 GATA binding protein 3 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24141364 12064359 GATA3 GATA binding protein 3 gene DOID:10003 sensorineural hearing loss ISO RGD:733638 D RGD:9068941 20200609 RGD HDR Syndrome/Barakat Syndrome, OMIM:146255 DNA:point_mutation, deletion, deletion:CDS:Arg277Ter, 49bpDELnt465-513, 12bpDELnt946-957 PMID:10935639|REF_RGD_ID:1358706 12064359 GATA3 GATA binding protein 3 gene DOID:11199 hypoparathyroidism ISO RGD:733638 D RGD:9068941 20200609 RGD HDR Syndrome/Barakat Syndrome, OMIM:146255 DNA:point_mutation, deletion, deletion:CDS:Arg277Ter, 49bpDELnt465-513, 12bpDELnt946-957 PMID:10935639|REF_RGD_ID:1358706 12064359 GATA3 GATA binding protein 3 gene DOID:2527 nephrosis ISO RGD:733638 D RGD:9068941 20200609 RGD HDR Syndrome/Barakat Syndrome, OMIM:146255 DNA:point_mutation, deletion, deletion:CDS:Arg277Ter, 49bpDELnt465-513, 12bpDELnt946-957 PMID:10935639|REF_RGD_ID:1358706 12064359 GATA3 GATA binding protein 3 gene DOID:2841 asthma ISO RGD:621250 D RGD:9068941 20200609 RGD PMID:18186587|REF_RGD_ID:5128803 12064359 GATA3 GATA binding protein 3 gene DOID:2841 asthma ISO RGD:733638 D RGD:9068941 20200609 RGD PMID:9949310|REF_RGD_ID:5128802 12064359 GATA3 GATA binding protein 3 gene DOID:305 carcinoma ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12064359 GATA3 GATA binding protein 3 gene DOID:630 genetic disease ISO RGD:733638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26514990|PMID:27387476|PMID:28492532 12064359 GATA3 GATA binding protein 3 gene DOID:7148 rheumatoid arthritis ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 12064359 GATA3 GATA binding protein 3 gene DOID:769 neuroblastoma ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30127528 12064359 GATA3 GATA binding protein 3 gene DOID:783 end stage renal disease ISO RGD:733638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stage 5 chronic kidney disease PMID:25741868 12064359 GATA3 GATA binding protein 3 gene DOID:8567 Hodgkin's lymphoma ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21037568 12064359 GATA3 GATA binding protein 3 gene DOID:9000156 Metaplasia ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27315767 12064359 GATA3 GATA binding protein 3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12064359 GATA3 GATA binding protein 3 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:621250 D RGD:9068941 20200609 RGD PMID:20118299|REF_RGD_ID:5128801 12064359 GATA3 GATA binding protein 3 gene DOID:9001371 Eosinophilia ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27315767 12064359 GATA3 GATA binding protein 3 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:621250 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spleen PMID:16336837|REF_RGD_ID:2314191 12064359 GATA3 GATA binding protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:25741912 12064359 GATA3 GATA binding protein 3 gene DOID:9004484 Sepsis severity ISO RGD:733638 D RGD:9068941 20200806 RGD PMID:25403265|REF_RGD_ID:38455982 12064359 GATA3 GATA binding protein 3 gene DOID:9004538 Hearing Loss ISO RGD:733638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:28492532|PMID:30311386 12064359 GATA3 GATA binding protein 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12064359 GATA3 GATA binding protein 3 gene DOID:9005372 Inflammation ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22325453 12064359 GATA3 GATA binding protein 3 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 12064359 GATA3 GATA binding protein 3 gene DOID:9007702 Carcinogenesis ISO RGD:733638 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:35115686 12064359 GATA3 GATA binding protein 3 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:733638 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:35115686 12064380 SLC45A2 solute carrier family 45 member 2 gene DOID:0050632 oculocutaneous albinism ISO RGD:1315452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:25741868|PMID:28492532 12064380 SLC45A2 solute carrier family 45 member 2 gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:1315452 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:25741868|PMID:28492532 12064380 SLC45A2 solute carrier family 45 member 2 gene DOID:0070098 oculocutaneous albinism type IV ISO RGD:1315452 D RGD:7240710 20180130 OMIM 12064380 SLC45A2 solute carrier family 45 member 2 gene DOID:0070098 oculocutaneous albinism type IV ISO RGD:1315452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism type 4 PMID:11574907|PMID:14070830|PMID:14722913|PMID:14961451|PMID:15565285|PMID:15714523|PMID:16162179|PMID:16868655|PMID:17044855|PMID:17768386|PMID:21458243|PMID:23165166|PMID:24096233|PMID:24617981|PMID:24845642|PMID:25741868|PMID:26573111|PMID:26818737|PMID:27019209|PMID:27706749|PMID:27734839|PMID:28457509|PMID:28492532|PMID:28976636|PMID:29345414|PMID:30019506|PMID:31229681 12064380 SLC45A2 solute carrier family 45 member 2 gene DOID:0111068 congenital bile acid synthesis defect 4 ISO RGD:1315452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 PMID:25741868|PMID:28492532 12064380 SLC45A2 solute carrier family 45 member 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1315452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578363 12064380 SLC45A2 solute carrier family 45 member 2 gene DOID:1909 melanoma ISO RGD:1315452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18563784|PMID:21559390 12064380 SLC45A2 solute carrier family 45 member 2 gene DOID:2213 hemorrhagic disease ISO RGD:1315452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:28492532|PMID:29345414 12064380 SLC45A2 solute carrier family 45 member 2 gene DOID:2513 basal cell carcinoma ISO RGD:1315452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578363 12064380 SLC45A2 solute carrier family 45 member 2 gene DOID:303 substance-related disorder ISO RGD:1315452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12064380 SLC45A2 solute carrier family 45 member 2 gene DOID:630 genetic disease ISO RGD:1315452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24096233|PMID:25741868|PMID:27734839|PMID:28492532 12064380 SLC45A2 solute carrier family 45 member 2 gene DOID:8923 skin melanoma ISO RGD:1315452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:15714523|PMID:17044855|PMID:17999355|PMID:18563784|PMID:18683857|PMID:19578363|PMID:28492532 12064380 SLC45A2 solute carrier family 45 member 2 gene DOID:9003119 Nonsyndromic Oculocutaneous Albinism ISO RGD:1315452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism PMID:18821858|PMID:25741868|PMID:28266639|PMID:28492532|PMID:30868578 12064380 SLC45A2 solute carrier family 45 member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12064380 SLC45A2 solute carrier family 45 member 2 gene DOID:9006017 Skin/Hair/Eye Pigmentation, Variation In, 5 ISO RGD:1315452 D RGD:7240710 20200506 OMIM 12064380 SLC45A2 solute carrier family 45 member 2 gene DOID:9006017 Skin/Hair/Eye Pigmentation, Variation In, 5 ISO RGD:1315452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 5 PMID:15714523|PMID:17044855|PMID:17768386|PMID:17999355|PMID:18463683|PMID:18563784|PMID:18683857|PMID:19578363|PMID:21458243|PMID:24096233|PMID:25741868|PMID:26573111|PMID:27734839|PMID:28492532|PMID:29345414 12064380 SLC45A2 solute carrier family 45 member 2 gene DOID:9008459 Neurogenic Arthrogryposis Multiplex Congenita 4 with Agenesis of the Corpus Callosum IAGP D RGD:12801476 20230118 OMIA Coat colour, albinism, oculocutaneous type IV PMID:24647637|PMID:25790827|PMID:28737247|PMID:34751460|PMID:35510419 12064398 EPN3 epsin 3 gene DOID:630 genetic disease ISO RGD:1315016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064398 EPN3 epsin 3 gene DOID:9775 diastolic heart failure ISO RGD:1315016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12064418 SHPK sedoheptulokinase gene DOID:1064 cystinosis ISO RGD:1317524 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cystinosin, defect of PMID:10625078|PMID:10673275|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:27734949|PMID:9537412|PMID:9792862 12064418 SHPK sedoheptulokinase gene DOID:3613 Canavan disease ISO RGD:1317524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 12064418 SHPK sedoheptulokinase gene DOID:630 genetic disease ISO RGD:1317524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10909858|PMID:21546516|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 12064418 SHPK sedoheptulokinase gene DOID:9001808 SEDOHEPTULOKINASE DEFICIENCY ISO RGD:1317524 D RGD:7240710 20190315 OMIM 12064418 SHPK sedoheptulokinase gene DOID:9001808 SEDOHEPTULOKINASE DEFICIENCY ISO RGD:1317524 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated sedoheptulokinase deficiency PMID:25647543|PMID:25741868|PMID:28492532 12064418 SHPK sedoheptulokinase gene DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type ISO RGD:1317524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE PMID:10625078|PMID:10673275|PMID:10909858|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:21546516|PMID:27102039|PMID:27734949|PMID:28492532|PMID:7668285|PMID:9537412|PMID:9792862 12064418 SHPK sedoheptulokinase gene DOID:9004409 Abderhalden-Kaufmann-Lignac Syndrome ISO RGD:1317524 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome PMID:10625078|PMID:10673275|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:27734949|PMID:9537412|PMID:9792862 12064418 SHPK sedoheptulokinase gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1317524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic PMID:10625078|PMID:10673275|PMID:10909858|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:21546516|PMID:27102039|PMID:27734949|PMID:28492532|PMID:7668285|PMID:9537412|PMID:9792862 12064430 SAPCD2 suppressor APC domain containing 2 gene DOID:0050777 Joubert syndrome ISO RGD:1345696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12064430 SAPCD2 suppressor APC domain containing 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1345696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12064430 SAPCD2 suppressor APC domain containing 2 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1345696 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12064430 SAPCD2 suppressor APC domain containing 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1345696 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12064430 SAPCD2 suppressor APC domain containing 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1345696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12064430 SAPCD2 suppressor APC domain containing 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1345696 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12064430 SAPCD2 suppressor APC domain containing 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1345696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12064430 SAPCD2 suppressor APC domain containing 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1345696 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12064430 SAPCD2 suppressor APC domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1345696 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12064430 SAPCD2 suppressor APC domain containing 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1345696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12064430 SAPCD2 suppressor APC domain containing 2 gene DOID:1826 epilepsy ISO RGD:1345696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12064430 SAPCD2 suppressor APC domain containing 2 gene DOID:3652 Leigh disease ISO RGD:1345696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12064430 SAPCD2 suppressor APC domain containing 2 gene DOID:630 genetic disease ISO RGD:1345696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064430 SAPCD2 suppressor APC domain containing 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1345696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12064452 MPIG6B megakaryocyte and platelet inhibitory receptor G6b gene DOID:0050553 JMP syndrome ISO RGD:1354388 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12064452 MPIG6B megakaryocyte and platelet inhibitory receptor G6b gene DOID:2213 hemorrhagic disease ISO RGD:1354388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 12064452 MPIG6B megakaryocyte and platelet inhibitory receptor G6b gene DOID:9002422 Thrombocytopenia, Anemia, and Myelofibrosis ISO RGD:1354388 D RGD:7240710 20190315 OMIM 12064452 MPIG6B megakaryocyte and platelet inhibitory receptor G6b gene DOID:9002422 Thrombocytopenia, Anemia, and Myelofibrosis ISO RGD:1354388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia, anemia, and myelofibrosis PMID:25741868|PMID:27743390 12064461 LIPI lipase I gene DOID:10652 Alzheimer's disease ISO RGD:1605865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 12064461 LIPI lipase I gene DOID:630 genetic disease ISO RGD:1605865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12064461 LIPI lipase I gene DOID:9000810 HYPERTRIGLYCERIDEMIA 1 ISO RGD:1605865 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia, familial PMID:12719377|PMID:28492532 12064461 LIPI lipase I gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12064461 LIPI lipase I gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:1605865 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.C55Y PMID:12719377|REF_RGD_ID:1625450 12064494 LOC100683711 uncharacterized LOC100683711 gene DOID:630 genetic disease ISO RGD:1321329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064497 MRPS24 mitochondrial ribosomal protein S24 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12064497 MRPS24 mitochondrial ribosomal protein S24 gene DOID:630 genetic disease ISO RGD:1314387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064500 CTPS1 CTP synthase 1 gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1322315 D RGD:9068941 20200609 RGD mRNA:increased expression:biliary tract neoplasm (human) PMID:12819026|REF_RGD_ID:2317903 12064500 CTPS1 CTP synthase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12064500 CTPS1 CTP synthase 1 gene DOID:0111938 immunodeficiency 24 ISO RGD:1322315 D RGD:7240710 20180130 OMIM 12064500 CTPS1 CTP synthase 1 gene DOID:0111938 immunodeficiency 24 ISO RGD:1322315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency PMID:16199547|PMID:17576681|PMID:24033266|PMID:24870241|PMID:25741868|PMID:27638562|PMID:28492532|PMID:30899265|PMID:32161190|PMID:9536098 12064500 CTPS1 CTP synthase 1 gene DOID:630 genetic disease ISO RGD:1322315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12064500 CTPS1 CTP synthase 1 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:1322315 D RGD:9068941 20200609 RGD mRNA:increased expression:nasopharynx (human) PMID:19302751|REF_RGD_ID:5132859 12064526 PRRG2 proline rich and Gla domain 2 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1313475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12064526 PRRG2 proline rich and Gla domain 2 gene DOID:630 genetic disease ISO RGD:1313475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064540 EMC6 ER membrane protein complex subunit 6 gene DOID:3613 Canavan disease ISO RGD:1606492 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:28492532|PMID:7668285 12064540 EMC6 ER membrane protein complex subunit 6 gene DOID:630 genetic disease ISO RGD:1606492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064574 TEX52 testis expressed 52 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:13208664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12064656 CSN2 casein beta gene DOID:305 carcinoma ISO RGD:1352883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:9879772 12064656 CSN2 casein beta gene DOID:630 genetic disease ISO RGD:1352883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064656 CSN2 casein beta gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1352883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:9879772 12064656 CSN2 casein beta gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1352883 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12064656 CSN2 casein beta gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1352883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:9879772 12064656 CSN2 casein beta gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:61981 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 12064669 UBE2S ubiquitin conjugating enzyme E2 S gene DOID:630 genetic disease ISO RGD:1343646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064677 CSF2 colony stimulating factor 2 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22315502 12064677 CSF2 colony stimulating factor 2 gene DOID:0050458 juvenile myelomonocytic leukemia treatment ISO RGD:1354508 D RGD:9068941 20200609 RGD PMID:9389708|REF_RGD_ID:10449526 12064677 CSF2 colony stimulating factor 2 gene DOID:0050852 limb ischemia ISO RGD:1551314 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:16648859|REF_RGD_ID:10449511 12064677 CSF2 colony stimulating factor 2 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11486401|PMID:11732872|PMID:7680712 12064677 CSF2 colony stimulating factor 2 gene DOID:0080074 neural tube defect ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17075842 12064677 CSF2 colony stimulating factor 2 gene DOID:0080178 mucositis ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8120554 12064677 CSF2 colony stimulating factor 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 12064677 CSF2 colony stimulating factor 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1354508 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12064677 CSF2 colony stimulating factor 2 gene DOID:0080600 COVID-19 severity ISO RGD:1354508 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 12064677 CSF2 colony stimulating factor 2 gene DOID:0080855 Parkinsonism ISO RGD:621065 D RGD:9068941 20200609 RGD PMID:21291297|REF_RGD_ID:5131508 12064677 CSF2 colony stimulating factor 2 gene DOID:10325 silicosis ISO RGD:621065 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21505002|REF_RGD_ID:10450467 12064677 CSF2 colony stimulating factor 2 gene DOID:10914 amnestic disorder ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8877002 12064677 CSF2 colony stimulating factor 2 gene DOID:1115 sarcoma ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11605069 12064677 CSF2 colony stimulating factor 2 gene DOID:11339 pneumocystosis ISO RGD:621065 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:19487471|REF_RGD_ID:5131475 12064677 CSF2 colony stimulating factor 2 gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1354508 D RGD:9068941 20200609 RGD PMID:11179134|PMID:21478218|PMID:9763547|REF_RGD_ID:10449509|REF_RGD_ID:10449522|REF_RGD_ID:5131467 12064677 CSF2 colony stimulating factor 2 gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1551314 D RGD:9068941 20220825 MouseDO OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370 12064677 CSF2 colony stimulating factor 2 gene DOID:1227 neutropenia ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11264156|PMID:7875148 12064677 CSF2 colony stimulating factor 2 gene DOID:1227 neutropenia treatment ISO RGD:1354508 D RGD:9068941 20200609 RGD PMID:10832225|REF_RGD_ID:10449510 12064677 CSF2 colony stimulating factor 2 gene DOID:12449 aplastic anemia ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12221670|PMID:9885444 12064677 CSF2 colony stimulating factor 2 gene DOID:12987 agranulocytosis ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11732872|PMID:8120554 12064677 CSF2 colony stimulating factor 2 gene DOID:13375 temporal arteritis ISO RGD:1354508 D RGD:9068941 20200609 RGD PMID:9844760|REF_RGD_ID:11059502 12064677 CSF2 colony stimulating factor 2 gene DOID:13949 interstitial cystitis ISO RGD:621065 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:18848347|REF_RGD_ID:2317284 12064677 CSF2 colony stimulating factor 2 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1354508 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 12064677 CSF2 colony stimulating factor 2 gene DOID:14566 disease of cellular proliferation ISO RGD:1551314 D RGD:9068941 20200609 RGD DNA:mutations:multiple: Csf2,Ifng,Il3 PMID:21537082|REF_RGD_ID:5686773 12064677 CSF2 colony stimulating factor 2 gene DOID:1588 thrombocytopenia ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8297739 12064677 CSF2 colony stimulating factor 2 gene DOID:1909 melanoma ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11061616 12064677 CSF2 colony stimulating factor 2 gene DOID:234 colon adenocarcinoma treatment ISO RGD:1551314 D RGD:9068941 20200609 RGD PMID:10830715|REF_RGD_ID:10450245 12064677 CSF2 colony stimulating factor 2 gene DOID:2355 anemia ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11732872|PMID:8297739 12064677 CSF2 colony stimulating factor 2 gene DOID:2799 bronchiolitis obliterans ISO RGD:621065 D RGD:9068941 20200609 RGD associated with Respiratory Aspiration;protein:increased expression:serum PMID:18557728|REF_RGD_ID:2317286 12064677 CSF2 colony stimulating factor 2 gene DOID:2841 asthma ISO RGD:1551314 D RGD:9068941 20200609 RGD PMID:9717963|REF_RGD_ID:10449521 12064677 CSF2 colony stimulating factor 2 gene DOID:2841 asthma ISO RGD:1551314 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20405019|REF_RGD_ID:5131473 12064677 CSF2 colony stimulating factor 2 gene DOID:2841 asthma severity ISO RGD:1354508 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:19213775|REF_RGD_ID:5131476 12064677 CSF2 colony stimulating factor 2 gene DOID:305 carcinoma ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11605069 12064677 CSF2 colony stimulating factor 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1354508 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:19213775|REF_RGD_ID:5131476 12064677 CSF2 colony stimulating factor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17894541 12064677 CSF2 colony stimulating factor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:621065 D RGD:9068941 20200609 RGD mRNA:increased expression:lung: PMID:9881949|REF_RGD_ID:10449530 12064677 CSF2 colony stimulating factor 2 gene DOID:530 eyelid disease ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17075842 12064677 CSF2 colony stimulating factor 2 gene DOID:5419 schizophrenia ISO RGD:1354508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12064677 CSF2 colony stimulating factor 2 gene DOID:552 pneumonia ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11732872 12064677 CSF2 colony stimulating factor 2 gene DOID:552 pneumonia ISO RGD:1551314 D RGD:9068941 20200609 RGD PMID:19633061|REF_RGD_ID:4142837 12064677 CSF2 colony stimulating factor 2 gene DOID:5844 myocardial infarction ISO RGD:621065 D RGD:9068941 20200609 RGD PMID:21326109|REF_RGD_ID:5131507 12064677 CSF2 colony stimulating factor 2 gene DOID:6000 congestive heart failure ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11732872 12064677 CSF2 colony stimulating factor 2 gene DOID:630 genetic disease ISO RGD:1354508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064677 CSF2 colony stimulating factor 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1551314 D RGD:9068941 20200609 RGD PMID:12731087|REF_RGD_ID:10450243 12064677 CSF2 colony stimulating factor 2 gene DOID:707 B-cell lymphoma treatment ISO RGD:1551314 D RGD:9068941 20200609 RGD PMID:8469286|REF_RGD_ID:10450244 12064677 CSF2 colony stimulating factor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 12064677 CSF2 colony stimulating factor 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:621065 D RGD:9068941 20201002 RGD protein:decreased expression:serum (rat) PMID:15238617|REF_RGD_ID:1302825 12064677 CSF2 colony stimulating factor 2 gene DOID:7693 abdominal aortic aneurysm severity ISO RGD:621065 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta: PMID:15010288|REF_RGD_ID:10450246 12064677 CSF2 colony stimulating factor 2 gene DOID:8893 psoriasis ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7744320 12064677 CSF2 colony stimulating factor 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1354508 D RGD:9068941 20200609 RGD PMID:15658127|REF_RGD_ID:10449531 12064677 CSF2 colony stimulating factor 2 gene DOID:9000111 Radiation Injuries ISO RGD:1551314 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow,spleen: PMID:7662961|REF_RGD_ID:10449513 12064677 CSF2 colony stimulating factor 2 gene DOID:9000242 Lymphoma, AIDS-Related ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7680712|PMID:9817281 12064677 CSF2 colony stimulating factor 2 gene DOID:9000641 Pain ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8622042 12064677 CSF2 colony stimulating factor 2 gene DOID:9000998 Brain Injuries disease_progression ISO RGD:621065 D RGD:9068941 20200609 RGD PMID:21515263|REF_RGD_ID:5686795 12064677 CSF2 colony stimulating factor 2 gene DOID:9001488 Human Influenza ISO RGD:1354508 D RGD:9068941 20200609 RGD PMID:20427198|REF_RGD_ID:5131472 12064677 CSF2 colony stimulating factor 2 gene DOID:9001488 Human Influenza ISO RGD:1551314 D RGD:9068941 20200609 RGD PMID:21474645|REF_RGD_ID:5131470 12064677 CSF2 colony stimulating factor 2 gene DOID:9003278 Neoplasm, Residual ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14654953 12064677 CSF2 colony stimulating factor 2 gene DOID:9003871 Venous Thrombosis ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8120554 12064677 CSF2 colony stimulating factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12064677 CSF2 colony stimulating factor 2 gene DOID:9004484 Sepsis ISO RGD:1354508 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:10664226|REF_RGD_ID:10449523 12064677 CSF2 colony stimulating factor 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 12064677 CSF2 colony stimulating factor 2 gene DOID:9005036 Bacteremia treatment ISO RGD:1551314 D RGD:9068941 20200609 RGD PMID:2192004|REF_RGD_ID:10449532 12064677 CSF2 colony stimulating factor 2 gene DOID:9005372 Inflammation ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159501 12064677 CSF2 colony stimulating factor 2 gene DOID:9005532 Muscle Weakness ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8622042 12064677 CSF2 colony stimulating factor 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7960606 12064677 CSF2 colony stimulating factor 2 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1354508 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus PMID:20088864|REF_RGD_ID:4143440 12064677 CSF2 colony stimulating factor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354508 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12064677 CSF2 colony stimulating factor 2 gene DOID:9007073 Cough treatment ISO RGD:1354508 D RGD:9068941 20200609 RGD PMID:9525446|REF_RGD_ID:10449525 12064677 CSF2 colony stimulating factor 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17326190 12064677 CSF2 colony stimulating factor 2 gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:1551314 D RGD:9068941 20200609 RGD associated with Neutropenia; PMID:1966550|REF_RGD_ID:10449524 12064677 CSF2 colony stimulating factor 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15289873 12064677 CSF2 colony stimulating factor 2 gene DOID:9008763 Femoral Fractures ISO RGD:621065 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21442011|REF_RGD_ID:5131471 12064677 CSF2 colony stimulating factor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11325840 12064677 CSF2 colony stimulating factor 2 gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11732872 12064677 CSF2 colony stimulating factor 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21441929 12064677 CSF2 colony stimulating factor 2 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1354508 D RGD:9068941 20200609 RGD PMID:1826536|REF_RGD_ID:10449528 12064677 CSF2 colony stimulating factor 2 gene DOID:9146 visceral leishmaniasis ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17404324 12064677 CSF2 colony stimulating factor 2 gene DOID:9146 visceral leishmaniasis treatment ISO RGD:1354508 D RGD:9068941 20200609 RGD PMID:8035028|REF_RGD_ID:10449527 12064677 CSF2 colony stimulating factor 2 gene DOID:9538 multiple myeloma ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7540856|PMID:8104070|PMID:8555506 12064692 BRD8 bromodomain containing 8 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1307003 D RGD:9068941 20200609 RGD PMID:19787264|REF_RGD_ID:9587763 12064692 BRD8 bromodomain containing 8 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1315939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12064692 BRD8 bromodomain containing 8 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1315939 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12064692 BRD8 bromodomain containing 8 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1315939 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12064692 BRD8 bromodomain containing 8 gene DOID:289 endometriosis ISO RGD:1315939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12064692 BRD8 bromodomain containing 8 gene DOID:630 genetic disease ISO RGD:1315939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064692 BRD8 bromodomain containing 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12064692 BRD8 bromodomain containing 8 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315939 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12064740 PGD phosphogluconate dehydrogenase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1343939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12064740 PGD phosphogluconate dehydrogenase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1343939 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12064740 PGD phosphogluconate dehydrogenase gene DOID:0080600 COVID-19 ISO RGD:1343939 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12064740 PGD phosphogluconate dehydrogenase gene DOID:0111936 immunodeficiency 14 ISO RGD:1343939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 12064740 PGD phosphogluconate dehydrogenase gene DOID:630 genetic disease ISO RGD:1343939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064740 PGD phosphogluconate dehydrogenase gene DOID:684 hepatocellular carcinoma ISO RGD:1343939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 12064757 G3BP1 G3BP stress granule assembly factor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12064757 G3BP1 G3BP stress granule assembly factor 1 gene DOID:3069 malignant astrocytoma ISO RGD:1604397 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:27106762 12064757 G3BP1 G3BP stress granule assembly factor 1 gene DOID:630 genetic disease ISO RGD:1604397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064757 G3BP1 G3BP stress granule assembly factor 1 gene DOID:9000918 Disease Progression ISO RGD:1604397 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:27106762 12064757 G3BP1 G3BP stress granule assembly factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12064757 G3BP1 G3BP stress granule assembly factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12064773 ELAPOR1 endosome-lysosome associated apoptosis and autophagy regulator 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1606254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12064773 ELAPOR1 endosome-lysosome associated apoptosis and autophagy regulator 1 gene DOID:12849 autistic disorder ISO RGD:1606254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12064773 ELAPOR1 endosome-lysosome associated apoptosis and autophagy regulator 1 gene DOID:630 genetic disease ISO RGD:1606254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064808 CCDC18 coiled-coil domain containing 18 gene DOID:630 genetic disease ISO RGD:1601798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064863 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0050534 congenital stationary night blindness ISO RGD:731992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:11281458|PMID:17525176|PMID:22194652|PMID:24124559|PMID:25307992|PMID:25741868|PMID:26992781|PMID:28041643|PMID:28492532|PMID:30825406|PMID:9662399|PMID:9662400 12064863 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0050572 cone-rod dystrophy ISO RGD:731992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:28492532|PMID:30718709 12064863 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0050572 cone-rod dystrophy ISO RGD:731992 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868|PMID:28492532|PMID:30718709 12064863 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0050630 Aland Island eye disease ISO RGD:731992 D RGD:7240710 20180130 OMIM 12064863 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0050630 Aland Island eye disease ISO RGD:731992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ocular albinism, type II PMID:11281458|PMID:14230113|PMID:16199547|PMID:17525176|PMID:22183355|PMID:22194652|PMID:24124559|PMID:25307992|PMID:25741868|PMID:26747767|PMID:26992781|PMID:28002560|PMID:28341476|PMID:28492532|PMID:28838317|PMID:30718709|PMID:30825406|PMID:9662399 12064863 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12064863 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:731992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12064863 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:731992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12064863 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:731992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12064863 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0110871 congenital stationary night blindness 2A ISO RGD:731992 D RGD:7240710 20180130 OMIM 12064863 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0110871 congenital stationary night blindness 2A ISO RGD:731992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 2A | ClinVar Annotator: match by term: Congenital stationary night blindness, type 2A, severe | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2 PMID:10900517|PMID:11281458|PMID:12111638|PMID:12187427|PMID:12719097|PMID:15807819|PMID:15897456|PMID:17525176|PMID:17949918|PMID:19578023|PMID:22194652|PMID:23714322|PMID:24033266|PMID:24051672|PMID:24124559|PMID:25307992|PMID:25741868|PMID:26747767|PMID:26992781|PMID:28002560|PMID:28041643|PMID:28492532|PMID:30576320|PMID:30718709|PMID:30825406|PMID:33037074|PMID:9529339|PMID:9662399|PMID:9662400 12064863 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0111007 X-linked cone-rod dystrophy 3 ISO RGD:731992 D RGD:7240710 20180130 OMIM 12064863 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0111007 X-linked cone-rod dystrophy 3 ISO RGD:731992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: X-linked cone-rod dystrophy 3 PMID:11281458|PMID:15897456|PMID:17525176|PMID:22194652|PMID:23776498|PMID:24124559|PMID:25307992|PMID:25741868|PMID:26992781|PMID:28492532|PMID:29127258|PMID:29854783|PMID:30718709|PMID:30825406|PMID:31651202|PMID:9662399 12064863 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:731992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12064863 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:731992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12064863 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:10584 retinitis pigmentosa ISO RGD:731992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:30718709 12064863 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:10584 retinitis pigmentosa ISO RGD:731992 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:30718709 12064863 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:11830 myopia ISO RGD:731992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868 12064863 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:12849 autistic disorder ISO RGD:731992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12064863 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:4448 macular degeneration ISO RGD:731992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:17576681|PMID:28492532|PMID:30718709|PMID:9536098 12064863 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:630 genetic disease ISO RGD:731992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12064863 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:8501 fundus dystrophy ISO RGD:731992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11281458|PMID:12552565|PMID:17525176|PMID:19578023|PMID:22194652|PMID:24124559|PMID:25307992|PMID:25741868|PMID:26992781|PMID:28002560|PMID:28041643|PMID:28492532|PMID:30718709|PMID:9662399 12064863 CACNA1F calcium voltage-gated channel subunit alpha1 F gene DOID:9008296 Eye Abnormalities ISO RGD:731992 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868|PMID:28041643 12064913 KLHL31 kelch like family member 31 gene DOID:14717 centronuclear myopathy ISO RGD:1619800 D RGD:9068941 20220825 MouseDO OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959 12064913 KLHL31 kelch like family member 31 gene DOID:630 genetic disease ISO RGD:1348720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064924 KBTBD12 kelch repeat and BTB domain containing 12 gene DOID:0111947 immunodeficiency 21 ISO RGD:1603549 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12064924 KBTBD12 kelch repeat and BTB domain containing 12 gene DOID:13938 amenorrhea ISO RGD:1603549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12064924 KBTBD12 kelch repeat and BTB domain containing 12 gene DOID:630 genetic disease ISO RGD:1603549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064924 KBTBD12 kelch repeat and BTB domain containing 12 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1603549 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 12064924 KBTBD12 kelch repeat and BTB domain containing 12 gene DOID:9270 alkaptonuria ISO RGD:1603549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12064947 EVI5L ecotropic viral integration site 5 like gene DOID:0080490 mucolipidosis type IV ISO RGD:1347720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12064947 EVI5L ecotropic viral integration site 5 like gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1347720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 12064947 EVI5L ecotropic viral integration site 5 like gene DOID:630 genetic disease ISO RGD:1347720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064974 CNN2 calponin 2 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1350375 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 12064974 CNN2 calponin 2 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1350375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 12064974 CNN2 calponin 2 gene DOID:4450 renal cell carcinoma ISO RGD:1350375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 12064974 CNN2 calponin 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:1350375 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12064974 CNN2 calponin 2 gene DOID:630 genetic disease ISO RGD:1350375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064974 CNN2 calponin 2 gene DOID:9007098 Pulmonary Atresia ISO RGD:1350375 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 12064992 LPAR5 lysophosphatidic acid receptor 5 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1348840 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12064992 LPAR5 lysophosphatidic acid receptor 5 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1348840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12064992 LPAR5 lysophosphatidic acid receptor 5 gene DOID:0111621 Temtamy syndrome ISO RGD:1348840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12064992 LPAR5 lysophosphatidic acid receptor 5 gene DOID:630 genetic disease ISO RGD:1348840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12064992 LPAR5 lysophosphatidic acid receptor 5 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1348840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12065015 TTC23 tetratricopeptide repeat domain 23 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1601741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 12065015 TTC23 tetratricopeptide repeat domain 23 gene DOID:4501 orofaciodigital syndrome ISO RGD:1601741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome 12065053 SPZ1 spermatogenic leucine zipper 1 gene DOID:630 genetic disease ISO RGD:1606768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065053 SPZ1 spermatogenic leucine zipper 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606768 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12065053 SPZ1 spermatogenic leucine zipper 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12065058 TERF2 telomeric repeat binding factor 2 gene DOID:0050427 xeroderma pigmentosum ISO RGD:1322036 D RGD:9068941 20220825 MouseDO 12065058 TERF2 telomeric repeat binding factor 2 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1322035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17643074 12065058 TERF2 telomeric repeat binding factor 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1322035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12065058 TERF2 telomeric repeat binding factor 2 gene DOID:630 genetic disease ISO RGD:1322035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065075 EGFL6 EGF like domain multiple 6 gene DOID:0050777 Joubert syndrome ISO RGD:1354247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 12065075 EGFL6 EGF like domain multiple 6 gene DOID:12849 autistic disorder ISO RGD:1354247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12065075 EGFL6 EGF like domain multiple 6 gene DOID:630 genetic disease ISO RGD:1354247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065075 EGFL6 EGF like domain multiple 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12065091 DDC dopa decarboxylase gene DOID:0050771 pheochromocytoma ISO RGD:734177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22569243 12065091 DDC dopa decarboxylase gene DOID:0080855 Parkinsonism ISO RGD:734177 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16269145 12065091 DDC dopa decarboxylase gene DOID:0090123 aromatic L-amino acid decarboxylase deficiency ISO RGD:734177 D RGD:7240710 20180130 OMIM 12065091 DDC dopa decarboxylase gene DOID:0090123 aromatic L-amino acid decarboxylase deficiency ISO RGD:734177 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Deficiency of aromatic-L-amino-acid decarboxylase PMID:1357595|PMID:14991824|PMID:15079002|PMID:16199547|PMID:17240182|PMID:17533144|PMID:17576681|PMID:18567514|PMID:20505134|PMID:21541720|PMID:22143761|PMID:23321058|PMID:23430870|PMID:24037885|PMID:24788355|PMID:24865461|PMID:25001633|PMID:25741868|PMID:25956449|PMID:26994895|PMID:27147232|PMID:28492532|PMID:28556607|PMID:28856607|PMID:28924877|PMID:28973165|PMID:29356298|PMID:29851841|PMID:30144970|PMID:30952622|PMID:31104889|PMID:31130284|PMID:31607746|PMID:31703131|PMID:31849064|PMID:31918669|PMID:31953134|PMID:31975548|PMID:32111562|PMID:32369189|PMID:32409695|PMID:33734312|PMID:33808712|PMID:9536098|PMID:9789536 12065091 DDC dopa decarboxylase gene DOID:10762 portal hypertension ISO RGD:2494 D RGD:9068941 20200609 RGD mRNA:decreased expression:superior mesenteric artery (rat) PMID:18457899|REF_RGD_ID:5129683 12065091 DDC dopa decarboxylase gene DOID:1184 nephrotic syndrome ISO RGD:2494 D RGD:9068941 20200609 RGD protein:decreased activity:renal cortex (rat) PMID:16204272|REF_RGD_ID:5129145 12065091 DDC dopa decarboxylase gene DOID:14330 Parkinson's disease ISO RGD:2494 D RGD:9068941 20200609 RGD PMID:12703659|REF_RGD_ID:4139893 12065091 DDC dopa decarboxylase gene DOID:14330 Parkinson's disease ISO RGD:2494 D RGD:9068941 20200609 RGD protein:altered expression:arcuate nucleus ((rat) PMID:15935614|REF_RGD_ID:5129231 12065091 DDC dopa decarboxylase gene DOID:14330 Parkinson's disease ISO RGD:734177 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11445284|PMID:2969953 12065091 DDC dopa decarboxylase gene DOID:14330 Parkinson's disease ISO RGD:734177 D RGD:9068941 20200609 RGD human gene in a rat model PMID:9853519|REF_RGD_ID:5129121 12065091 DDC dopa decarboxylase gene DOID:150 disease of mental health ISO RGD:734177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2969953 12065091 DDC dopa decarboxylase gene DOID:2018 hyperinsulinism ISO RGD:734177 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic beta cell (human) PMID:16403819|REF_RGD_ID:5129140 12065091 DDC dopa decarboxylase gene DOID:3312 bipolar disorder ISO RGD:734177 D RGD:9068941 20200609 RGD DNA:deletions:5' utr, intron:g.-601delG, g.722_725delGAGA (human) PMID:12555230|REF_RGD_ID:1358586 12065091 DDC dopa decarboxylase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12065091 DDC dopa decarboxylase gene DOID:630 genetic disease ISO RGD:734177 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15079002|PMID:17576681|PMID:24788355|PMID:28492532|PMID:32111562|PMID:9536098 12065091 DDC dopa decarboxylase gene DOID:655 inherited metabolic disorder ISO RGD:734177 D RGD:9068941 20200609 RGD AADC deficiency, OMIM:608643; DNA:point mutations:cds:multiple (human) PMID:20505134|REF_RGD_ID:5128849 12065091 DDC dopa decarboxylase gene DOID:783 end stage renal disease ISO RGD:2494 D RGD:9068941 20200609 RGD protein:altered activity:renal cortex (rat) PMID:19167406|REF_RGD_ID:5128880 12065091 DDC dopa decarboxylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2494 D RGD:9068941 20200609 RGD mRNA:decreased expression:superior mesenteric artery (rat) PMID:18457899|REF_RGD_ID:5129683 12065091 DDC dopa decarboxylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12065091 DDC dopa decarboxylase gene DOID:9002955 Nerve Degeneration ISO RGD:734177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19522546 12065091 DDC dopa decarboxylase gene DOID:9008086 Developmental Disabilities ISO RGD:734177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28492532 12065091 DDC dopa decarboxylase gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:2494 D RGD:9068941 20200609 RGD associated with Parkinson Disease; protein:decreased expression:striatum (rat) PMID:20232137|REF_RGD_ID:5128860 12065124 ZPBP zona pellucida binding protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12065124 ZPBP zona pellucida binding protein gene DOID:630 genetic disease ISO RGD:1351452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065124 ZPBP zona pellucida binding protein gene DOID:9000088 Spermatogenic Failure 66 ISO RGD:1351452 D RGD:7240710 20220406 OMIM 12065124 ZPBP zona pellucida binding protein gene DOID:9000088 Spermatogenic Failure 66 ISO RGD:1351452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 66 PMID:31985809 12065135 ZKSCAN7 zinc finger with KRAB and SCAN domains 7 gene DOID:630 genetic disease ISO RGD:1313155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065147 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:2843 long QT syndrome ISO RGD:1320847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12065147 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:630 genetic disease ISO RGD:1320847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065174 VPS26C VPS26 endosomal protein sorting factor C gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1315747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12065174 VPS26C VPS26 endosomal protein sorting factor C gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1315747 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12065174 VPS26C VPS26 endosomal protein sorting factor C gene DOID:1826 epilepsy ISO RGD:1315747 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12065174 VPS26C VPS26 endosomal protein sorting factor C gene DOID:630 genetic disease ISO RGD:1315747 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065186 UQCC4 ubiquinol-cytochrome c reductase complex assembly factor 4 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1605551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12065186 UQCC4 ubiquinol-cytochrome c reductase complex assembly factor 4 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605551 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12065186 UQCC4 ubiquinol-cytochrome c reductase complex assembly factor 4 gene DOID:1826 epilepsy ISO RGD:1605551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12065186 UQCC4 ubiquinol-cytochrome c reductase complex assembly factor 4 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12065192 THAP2 THAP domain containing 2 gene DOID:630 genetic disease ISO RGD:1349583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065207 MRPS21 mitochondrial ribosomal protein S21 gene DOID:0111940 immunodeficiency 42 ISO RGD:1316574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12065207 MRPS21 mitochondrial ribosomal protein S21 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1316574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12065207 MRPS21 mitochondrial ribosomal protein S21 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1316574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12065207 MRPS21 mitochondrial ribosomal protein S21 gene DOID:1540 parathyroid carcinoma ISO RGD:1316574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12065207 MRPS21 mitochondrial ribosomal protein S21 gene DOID:5812 MHC class II deficiency ISO RGD:1316574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12065207 MRPS21 mitochondrial ribosomal protein S21 gene DOID:630 genetic disease ISO RGD:1316574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065207 MRPS21 mitochondrial ribosomal protein S21 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12065220 RPIA ribose 5-phosphate isomerase A gene DOID:630 genetic disease ISO RGD:1322805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12065220 RPIA ribose 5-phosphate isomerase A gene DOID:9005223 Ribose 5-Phosphate Isomerase Deficiency ISO RGD:1322805 D RGD:7240710 20180130 OMIM 12065220 RPIA ribose 5-phosphate isomerase A gene DOID:9005223 Ribose 5-Phosphate Isomerase Deficiency ISO RGD:1322805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of ribose-5-phosphate isomerase PMID:10589548|PMID:14988808|PMID:20499043|PMID:25741868|PMID:28492532|PMID:30088433|PMID:31056085 12065234 MIR204 microRNA 204 gene DOID:9002955 Nerve Degeneration ISO RGD:1346904 D RGD:9068941 20230518 CTD CTD Direct Evidence: therapeutic PMID:36177783 12065234 MIR204 microRNA mir-204 gene DOID:10591 pre-eclampsia ISO RGD:1346904 D RGD:9068941 20230128 RGD miRNA:increased expression:blood serum (human) PMID:25017274|REF_RGD_ID:155882496 12065234 MIR204 microRNA mir-204 gene DOID:2043 hepatitis B ISO RGD:1346904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12065234 MIR204 microRNA mir-204 gene DOID:6432 pulmonary hypertension ISO RGD:1346904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26224795 12065234 MIR204 microRNA mir-204 gene DOID:9001283 RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT ISO RGD:1346904 D RGD:7240710 20181003 OMIM 12065234 MIR204 microRNA mir-204 gene DOID:9001283 RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT ISO RGD:1346904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy and iris coloboma with or without congenital cataract PMID:26056285|PMID:28492532 12065234 MIR204 microRNA mir-204 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12065304 PXT1 peroxisomal testis enriched protein 1 gene DOID:0050553 JMP syndrome ISO RGD:1349206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12065304 PXT1 peroxisomal testis enriched protein 1 gene DOID:630 genetic disease ISO RGD:1349206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065314 RPL7A ribosomal protein L7a gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12065314 RPL7A ribosomal protein L7a gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1316865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12065314 RPL7A ribosomal protein L7a gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12065314 RPL7A ribosomal protein L7a gene DOID:0081097 Rafiq syndrome ISO RGD:1316865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12065314 RPL7A ribosomal protein L7a gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1316865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12065314 RPL7A ribosomal protein L7a gene DOID:3652 Leigh disease ISO RGD:1316865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12065333 TMEM165 transmembrane protein 165 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1601750 D RGD:7240710 20180130 OMIM 12065333 TMEM165 transmembrane protein 165 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1601750 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:17576681|PMID:22521416|PMID:22683087|PMID:25741868|PMID:26657937|PMID:28492532|PMID:9536098 12065333 TMEM165 transmembrane protein 165 gene DOID:10487 Hirschsprung's disease ISO RGD:1601750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 12065333 TMEM165 transmembrane protein 165 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1601750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:25741868|PMID:28492532 12065333 TMEM165 transmembrane protein 165 gene DOID:630 genetic disease ISO RGD:1601750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12065333 TMEM165 transmembrane protein 165 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1601750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12065343 AGO3 argonaute RISC catalytic component 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12065343 AGO3 argonaute RISC catalytic component 3 gene DOID:630 genetic disease ISO RGD:1319350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065376 PRPF38A pre-mRNA processing factor 38A gene DOID:630 genetic disease ISO RGD:1602851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065390 DNAH6 dynein axonemal heavy chain 6 gene DOID:0050545 visceral heterotaxy ISO RGD:1347757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Situs ambiguus 12065390 DNAH6 dynein axonemal heavy chain 6 gene DOID:12858 Huntington's disease treatment ISO RGD:1551162 D RGD:9068941 20200609 RGD PMID:24282028|REF_RGD_ID:13432158 12065390 DNAH6 dynein axonemal heavy chain 6 gene DOID:5426 primary ovarian insufficiency ISO RGD:1347757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12065390 DNAH6 dynein axonemal heavy chain 6 gene DOID:630 genetic disease ISO RGD:1347757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065390 DNAH6 dynein axonemal heavy chain 6 gene DOID:758 situs inversus ISO RGD:1347757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 12065469 TNNI2 troponin I2, fast skeletal type gene DOID:0050646 distal arthrogryposis ISO RGD:1344978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal | ClinVar Annotator: match by term: Distal arthrogryposis PMID:12592607|PMID:17101001|PMID:17194691|PMID:25741868 12065469 TNNI2 troponin I2, fast skeletal type gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12065469 TNNI2 troponin I2, fast skeletal type gene DOID:0080000 muscular disease ISO RGD:1344978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19628585 12065469 TNNI2 troponin I2, fast skeletal type gene DOID:0080773 delta beta-thalassemia ISO RGD:1344978 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12065469 TNNI2 troponin I2, fast skeletal type gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1344978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868 12065469 TNNI2 troponin I2, fast skeletal type gene DOID:0111599 distal arthrogryposis type 2B ISO RGD:1344978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12065469 TNNI2 troponin I2, fast skeletal type gene DOID:0111600 distal arthrogryposis type 2B1 ISO RGD:1344978 D RGD:7240710 20180130 OMIM 12065469 TNNI2 troponin I2, fast skeletal type gene DOID:0111600 distal arthrogryposis type 2B1 ISO RGD:1344978 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 PMID:12592607|PMID:17101001|PMID:17194691|PMID:23401156|PMID:23850728|PMID:25340332|PMID:25741868|PMID:26526134|PMID:27790376|PMID:28492532 12065469 TNNI2 troponin I2, fast skeletal type gene DOID:0111969 immunodeficiency 39 ISO RGD:1344978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12065469 TNNI2 troponin I2, fast skeletal type gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12065469 TNNI2 troponin I2, fast skeletal type gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12065469 TNNI2 troponin I2, fast skeletal type gene DOID:630 genetic disease ISO RGD:1344978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065469 TNNI2 troponin I2, fast skeletal type gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1344978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12065481 MVB12A multivesicular body subunit 12A gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1604253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS 12065481 MVB12A multivesicular body subunit 12A gene DOID:630 genetic disease ISO RGD:1604253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065494 MYCBP2 MYC binding protein 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1323830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12065494 MYCBP2 MYC binding protein 2 gene DOID:10283 prostate cancer ISO RGD:1323830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12065494 MYCBP2 MYC binding protein 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1323830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10528251|PMID:20127975|PMID:20157158|PMID:22589734|PMID:28492532|PMID:30394532|PMID:31406620|PMID:32393339|PMID:8001159 12065494 MYCBP2 MYC binding protein 2 gene DOID:630 genetic disease ISO RGD:1323830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065494 MYCBP2 MYC binding protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1323830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12065604 MME membrane metalloendopeptidase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:737353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868|PMID:28492532 12065604 MME membrane metalloendopeptidase gene DOID:0080600 COVID-19 ISO RGD:737353 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12065604 MME membrane metalloendopeptidase gene DOID:0110160 Charcot-Marie-Tooth disease axonal type 2T ISO RGD:737353 D RGD:7240710 20190315 OMIM 12065604 MME membrane metalloendopeptidase gene DOID:0110160 Charcot-Marie-Tooth disease axonal type 2T ISO RGD:737353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2T | ClinVar Annotator: match by term: MME-related autosomal dominant Charcot Marie Tooth disease type 2 PMID:15464186|PMID:16199547|PMID:25565308|PMID:25741868|PMID:26991897|PMID:27588448|PMID:28492532|PMID:31673878|PMID:33144514|PMID:34758253 12065604 MME membrane metalloendopeptidase gene DOID:0111745 cerebellar ataxia type 43 ISO RGD:737353 D RGD:7240710 20190315 OMIM 12065604 MME membrane metalloendopeptidase gene DOID:0111745 cerebellar ataxia type 43 ISO RGD:737353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 43 PMID:15464186|PMID:24033266|PMID:25565308|PMID:25741868|PMID:26991897|PMID:27583304|PMID:27588448|PMID:28492532|PMID:30415211|PMID:33144514 12065604 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease ISO RGD:734285 D RGD:9068941 20200609 RGD PMID:12074840|PMID:25991605|REF_RGD_ID:13801010|REF_RGD_ID:13801022 12065604 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease ISO RGD:734285 D RGD:9068941 20220825 MouseDO OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 12065604 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease ISO RGD:737353 D RGD:9068941 20200609 RGD PMID:25884928|REF_RGD_ID:13801034 12065604 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease ISO RGD:737353 D RGD:9068941 20200609 RGD DNA:SNP: :rs6797911 (human) PMID:22493749|REF_RGD_ID:13801011 12065604 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease ISO RGD:737353 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:promoter, introns:-204G>C, IVS17-294C>T, IVS22+36C>A (human) PMID:15860464|REF_RGD_ID:13801021 12065604 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease ISO RGD:737353 D RGD:9068941 20200609 RGD DNA:SNPs:introns:rs1836915, rs6776185, rs6801319 (human) PMID:17928142|REF_RGD_ID:13801023 12065604 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease no_association ISO RGD:737353 D RGD:9068941 20200609 RGD DNA:SNPs, repeat:multiple:multiple PMID:17928142|REF_RGD_ID:13801023 12065604 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease no_association ISO RGD:737353 D RGD:9068941 20200609 RGD DNA:SNPs, repeats, deletion:promoter:multiple PMID:12527400|REF_RGD_ID:13801020 12065604 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease no_association ISO RGD:737353 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:22493749|REF_RGD_ID:13801011 12065604 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease no_association ISO RGD:737353 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr, 3' utr:rs3736187, rs989692, rs701109 (human) PMID:21537452|REF_RGD_ID:13801012 12065604 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease no_association ISO RGD:737353 D RGD:9068941 20200609 RGD DNA:repeats PMID:11849775|REF_RGD_ID:1600813 12065604 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease onset ISO RGD:737353 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:rs6665 (human) PMID:28294061|REF_RGD_ID:13801009 12065604 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease severity ISO RGD:737353 D RGD:9068941 20200609 RGD PMID:19606063|REF_RGD_ID:13801019 12065604 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease treatment ISO RGD:3098 D RGD:9068941 20200609 RGD PMID:20141738|REF_RGD_ID:13801024 12065604 MME membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease treatment ISO RGD:734285 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:25416980|REF_RGD_ID:13801033 12065604 MME membrane metalloendopeptidase gene DOID:1074 kidney failure ISO RGD:737353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10485324 12065604 MME membrane metalloendopeptidase gene DOID:10763 hypertension treatment ISO RGD:3098 D RGD:9068941 20200609 RGD PMID:12011651|REF_RGD_ID:13801039 12065604 MME membrane metalloendopeptidase gene DOID:10976 membranous glomerulonephritis ISO RGD:737353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization PMID:15464186|PMID:24033266|PMID:25565308|PMID:25741868|PMID:26991897|PMID:27588448|PMID:28492532|PMID:30415211 12065604 MME membrane metalloendopeptidase gene DOID:13250 diarrhea treatment ISO RGD:3098 D RGD:9068941 20200609 RGD PMID:3481337|REF_RGD_ID:13801042 12065604 MME membrane metalloendopeptidase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:27588448|PMID:28492532 12065604 MME membrane metalloendopeptidase gene DOID:574 peripheral nervous system disease ISO RGD:737353 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:26991897|PMID:28492532 12065604 MME membrane metalloendopeptidase gene DOID:6000 congestive heart failure ISO RGD:3098 D RGD:9068941 20200609 RGD PMID:12383878|REF_RGD_ID:13801043 12065604 MME membrane metalloendopeptidase gene DOID:630 genetic disease ISO RGD:737353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33144514 12065604 MME membrane metalloendopeptidase gene DOID:630 genetic disease ISO RGD:737353 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:33144514|PMID:9536098 12065604 MME membrane metalloendopeptidase gene DOID:684 hepatocellular carcinoma ISO RGD:3098 D RGD:9068941 20200609 RGD PMID:8302012|REF_RGD_ID:13801035 12065604 MME membrane metalloendopeptidase gene DOID:824 periodontitis ISO RGD:737353 D RGD:9068941 20200609 RGD mRNA:increased expression:gingiva PMID:28285126|REF_RGD_ID:13801025 12065604 MME membrane metalloendopeptidase gene DOID:870 neuropathy ISO RGD:737353 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive axonal hereditary motor and sensory neuropathy | ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:26991897|PMID:28492532 12065604 MME membrane metalloendopeptidase gene DOID:9000310 Lung Injury ISO RGD:737353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21114838 12065604 MME membrane metalloendopeptidase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16085334 12065604 MME membrane metalloendopeptidase gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:3098 D RGD:9068941 20200609 RGD PMID:8201016|REF_RGD_ID:13801045 12065604 MME membrane metalloendopeptidase gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:737353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12065604 MME membrane metalloendopeptidase gene DOID:9002304 Prostatic Neoplasms ISO RGD:737353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17173048 12065604 MME membrane metalloendopeptidase gene DOID:9002669 Hypoxia ISO RGD:3098 D RGD:9068941 20200609 RGD PMID:11557598|REF_RGD_ID:13801041 12065604 MME membrane metalloendopeptidase gene DOID:9002669 Hypoxia treatment ISO RGD:737353 D RGD:9068941 20200609 RGD PMID:11557598|REF_RGD_ID:13801041 12065604 MME membrane metalloendopeptidase gene DOID:9005930 Endotoxemia severity ISO RGD:3098 D RGD:9068941 20200609 RGD PMID:11078421|REF_RGD_ID:13801040 12065604 MME membrane metalloendopeptidase gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:737353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12928894 12065604 MME membrane metalloendopeptidase gene DOID:9008939 Breast Neoplasms ISO RGD:737353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23063927 12065604 MME membrane metalloendopeptidase gene DOID:9246 cerebral amyloid angiopathy severity ISO RGD:737353 D RGD:9068941 20200609 RGD PMID:21382117|REF_RGD_ID:13801026 12065604 MME membrane metalloendopeptidase gene DOID:9246 cerebral amyloid angiopathy severity ISO RGD:737353 D RGD:9068941 20200609 RGD associated with Alzheimer Disease;protein:decreased expression:frontal lobe cortex (human) PMID:17021406|REF_RGD_ID:1600811 12065604 MME membrane metalloendopeptidase gene DOID:9743 diabetic neuropathy ISO RGD:737353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20148083 12065638 BPI bactericidal permeability increasing protein gene DOID:2234 focal epilepsy ISO RGD:1352137 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12065638 BPI bactericidal permeability increasing protein gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1352137 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 12065638 BPI bactericidal permeability increasing protein gene DOID:630 genetic disease ISO RGD:1352137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065638 BPI bactericidal permeability increasing protein gene DOID:8778 Crohn's disease ISO RGD:1352137 D RGD:9068941 20200609 RGD PMID:15758620|REF_RGD_ID:1580079 12065662 CFI complement factor I gene DOID:0050419 complement factor I deficiency ISO RGD:736809 D RGD:7240710 20230517 OMIM 12065662 CFI complement factor I gene DOID:0050419 complement factor I deficiency ISO RGD:736809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: C3 GLOMERULOPATHY 2 | ClinVar Annotator: match by term: Complement factor I deficiency PMID:15917334|PMID:16199547|PMID:16621965|PMID:17084897|PMID:17576681|PMID:17597211|PMID:18374984|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:22710145|PMID:23421077|PMID:23431077|PMID:23685748|PMID:24033266|PMID:24036952|PMID:25352734|PMID:25741868|PMID:25788521|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27268256|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:31049720|PMID:31231365|PMID:31440263|PMID:32510551|PMID:34153144|PMID:34169201|PMID:849647|PMID:8613545|PMID:9536098 12065662 CFI complement factor I gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:736809 D RGD:7240710 20230517 OMIM 12065662 CFI complement factor I gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:736809 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:15173250|PMID:16199547|PMID:16621965|PMID:17084897|PMID:17576681|PMID:18374984|PMID:18557729|PMID:18825487|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:20595690|PMID:22710145|PMID:23307876|PMID:23314101|PMID:23421077|PMID:23431077|PMID:23685748|PMID:23787556|PMID:24033266|PMID:24034049|PMID:24036952|PMID:24161037|PMID:25037630|PMID:25135378|PMID:25352734|PMID:25741868|PMID:25741909|PMID:25758434|PMID:25788521|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27268256|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29292855|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:31049720|PMID:31249236|PMID:31517156|PMID:32510551|PMID:849647|PMID:8613545|PMID:9536098 12065662 CFI complement factor I gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:736809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:15173250|PMID:15917334|PMID:16199547|PMID:16621965|PMID:17084897|PMID:17576681|PMID:17597211|PMID:18374984|PMID:18557729|PMID:18825487|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:20595690|PMID:22710145|PMID:23307876|PMID:23314101|PMID:23421077|PMID:23431077|PMID:23685748|PMID:23787556|PMID:24033266|PMID:24034049|PMID:24036952|PMID:24161037|PMID:25037630|PMID:25135378|PMID:25352734|PMID:25741868|PMID:25741909|PMID:25758434|PMID:25788521|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27268256|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29292855|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:30982675|PMID:31049720|PMID:31231365|PMID:31249236|PMID:31440263|PMID:31517156|PMID:31900968|PMID:32098865|PMID:32510551|PMID:34153144|PMID:34169201|PMID:849647|PMID:8613545|PMID:9536098 12065662 CFI complement factor I gene DOID:0110025 age related macular degeneration 13 ISO RGD:736809 D RGD:7240710 20230517 OMIM 12065662 CFI complement factor I gene DOID:0110025 age related macular degeneration 13 ISO RGD:736809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 13 | ClinVar Annotator: match by term: Macular degeneration, age-related, 13, susceptibility to PMID:15917334|PMID:16199547|PMID:16621965|PMID:17084897|PMID:17576681|PMID:17597211|PMID:18374984|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:22710145|PMID:23421077|PMID:23431077|PMID:23685748|PMID:24033266|PMID:24036952|PMID:25352734|PMID:25741868|PMID:25788521|PMID:25986072|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27268256|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:31049720|PMID:31231365|PMID:31440263|PMID:32510551|PMID:34153144|PMID:34169201|PMID:849647|PMID:8613545|PMID:9536098 12065662 CFI complement factor I gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:736809 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:18825487|PMID:25741868|PMID:28492532 12065662 CFI complement factor I gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:736809 D RGD:9068941 20200609 RGD DNA:SNPs: :rs10033900, rs13117504 (human) PMID:23900096|REF_RGD_ID:8662315 12065662 CFI complement factor I gene DOID:1184 nephrotic syndrome disease_progression ISO RGD:736809 D RGD:9068941 20210319 RGD PMID:9745775|REF_RGD_ID:108019049 12065662 CFI complement factor I gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:736809 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:18825487|PMID:25741868|PMID:28492532 12065662 CFI complement factor I gene DOID:2236 congenital afibrinogenemia ISO RGD:736809 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency PMID:15917334|PMID:16199547|PMID:16621965|PMID:17018561|PMID:17084897|PMID:17576681|PMID:18374984|PMID:19065647|PMID:19861685|PMID:20016463|PMID:20106822|PMID:20301541|PMID:22710145|PMID:23421077|PMID:23431077|PMID:24033266|PMID:24036952|PMID:25741868|PMID:25988862|PMID:26826462|PMID:27091480|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29566171|PMID:29888403|PMID:29940891|PMID:31049720|PMID:31231365|PMID:849647|PMID:8613545|PMID:9536098 12065662 CFI complement factor I gene DOID:2236 congenital afibrinogenemia ISO RGD:736809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Factor I deficiency PMID:15917334|PMID:16199547|PMID:16621965|PMID:17018561|PMID:17084897|PMID:17576681|PMID:17597211|PMID:17914026|PMID:18374984|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:22710145|PMID:23421077|PMID:23431077|PMID:23685748|PMID:24033266|PMID:24036952|PMID:25352734|PMID:25741868|PMID:25788521|PMID:25988862|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27091480|PMID:27268256|PMID:28187980|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:30046676|PMID:31049720|PMID:31231365|PMID:31440263|PMID:32510551|PMID:34153144|PMID:34169201|PMID:849647|PMID:8613545|PMID:9536098 12065662 CFI complement factor I gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:732319 D RGD:9068941 20200609 RGD PMID:18202746|REF_RGD_ID:6906892 12065662 CFI complement factor I gene DOID:4448 macular degeneration ISO RGD:736809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685748|PMID:24036952|PMID:26691988 12065662 CFI complement factor I gene DOID:4448 macular degeneration ISO RGD:736809 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G119R (human) PMID:23685748|REF_RGD_ID:8662313 12065662 CFI complement factor I gene DOID:4448 macular degeneration disease_progression ISO RGD:736809 D RGD:9068941 20200609 RGD DNA:SNP:intron:g.110659067T>C (rs10033900) (human) PMID:22815349|REF_RGD_ID:8662321 12065662 CFI complement factor I gene DOID:4448 macular degeneration no_association ISO RGD:736809 D RGD:9068941 20200609 RGD DNA:SNP:cds:c.345G>A (rs2285714) (human) PMID:23900096|REF_RGD_ID:8662315 12065662 CFI complement factor I gene DOID:557 kidney disease ISO RGD:736809 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 12065662 CFI complement factor I gene DOID:630 genetic disease ISO RGD:736809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12065662 CFI complement factor I gene DOID:784 chronic kidney disease ISO RGD:736809 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:17084897|PMID:20301541|PMID:25741868|PMID:28492532 12065662 CFI complement factor I gene DOID:8893 psoriasis severity ISO RGD:736809 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:2973157|REF_RGD_ID:8662318 12065662 CFI complement factor I gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:736809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombotic microangiopathy PMID:25741868|PMID:28492532 12065662 CFI complement factor I gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:620429 D RGD:9068941 20200609 RGD mRNA:increased expression:spiral organ of cochlea, sensory epithelium PMID:23727008|REF_RGD_ID:8662317 12065689 GOLGA5 golgin A5 gene DOID:0080054 achondrogenesis type IA ISO RGD:1317779 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12065689 GOLGA5 golgin A5 gene DOID:630 genetic disease ISO RGD:1317779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065689 GOLGA5 golgin A5 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1317779 D RGD:9068941 20200609 RGD reciprocal translocation resulting in fusion of GOLGA5 with the RET oncogene found in radioactivity-induced thyroid carcinomas PMID:9443391|REF_RGD_ID:1599259 12065706 HTR5A 5-hydroxytryptamine receptor 5A gene DOID:0110875 holoprosencephaly 3 ISO RGD:735325 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 12065706 HTR5A 5-hydroxytryptamine receptor 5A gene DOID:10283 prostate cancer ISO RGD:735325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12065706 HTR5A 5-hydroxytryptamine receptor 5A gene DOID:12849 autistic disorder ISO RGD:735325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12065706 HTR5A 5-hydroxytryptamine receptor 5A gene DOID:630 genetic disease ISO RGD:735325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065712 CYP26B1 cytochrome P450 family 26 subfamily B member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736189 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12065712 CYP26B1 cytochrome P450 family 26 subfamily B member 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:736189 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12065712 CYP26B1 cytochrome P450 family 26 subfamily B member 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736189 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29379198 12065712 CYP26B1 cytochrome P450 family 26 subfamily B member 1 gene DOID:403 mouth disease ISO RGD:736189 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 12065712 CYP26B1 cytochrome P450 family 26 subfamily B member 1 gene DOID:543 dystonia ISO RGD:736189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12065712 CYP26B1 cytochrome P450 family 26 subfamily B member 1 gene DOID:630 genetic disease ISO RGD:736189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12065712 CYP26B1 cytochrome P450 family 26 subfamily B member 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736189 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 12065712 CYP26B1 cytochrome P450 family 26 subfamily B member 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:736189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12065712 CYP26B1 cytochrome P450 family 26 subfamily B member 1 gene DOID:9000725 Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies ISO RGD:736189 D RGD:7240710 20180130 OMIM 12065712 CYP26B1 cytochrome P450 family 26 subfamily B member 1 gene DOID:9000725 Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies ISO RGD:736189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Radiohumeral fusions with other skeletal and craniofacial anomalies PMID:22019272|PMID:25741868 12065712 CYP26B1 cytochrome P450 family 26 subfamily B member 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:736189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 12065712 CYP26B1 cytochrome P450 family 26 subfamily B member 1 gene DOID:9970 obesity ISO RGD:736189 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12065727 RCE1 Ras converting CAAX endopeptidase 1 gene DOID:1059 intellectual disability ISO RGD:1319506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12065727 RCE1 Ras converting CAAX endopeptidase 1 gene DOID:630 genetic disease ISO RGD:1319506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065727 RCE1 Ras converting CAAX endopeptidase 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1319506 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12065727 RCE1 Ras converting CAAX endopeptidase 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12065746 EHBP1L1 EH domain binding protein 1 like 1 gene DOID:1059 intellectual disability ISO RGD:1342687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12065746 EHBP1L1 EH domain binding protein 1 like 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1342687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12065746 EHBP1L1 EH domain binding protein 1 like 1 gene DOID:2746 glycogen storage disease V ISO RGD:1342687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12065746 EHBP1L1 EH domain binding protein 1 like 1 gene DOID:3070 high grade glioma ISO RGD:1342687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12065746 EHBP1L1 EH domain binding protein 1 like 1 gene DOID:630 genetic disease ISO RGD:1342687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065746 EHBP1L1 EH domain binding protein 1 like 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1342687 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12065746 EHBP1L1 EH domain binding protein 1 like 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1342687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 12065746 EHBP1L1 EH domain binding protein 1 like 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1342687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 12065782 OTUD6B OTU deubiquitinase 6B gene DOID:1826 epilepsy ISO RGD:1602119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868|PMID:28343629|PMID:28492532|PMID:31147255|PMID:32924626 12065782 OTUD6B OTU deubiquitinase 6B gene DOID:630 genetic disease ISO RGD:1602119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28343629|PMID:28492532|PMID:31147255|PMID:32924626 12065782 OTUD6B OTU deubiquitinase 6B gene DOID:9000505 Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies ISO RGD:1602119 D RGD:7240710 20190315 OMIM 12065782 OTUD6B OTU deubiquitinase 6B gene DOID:9000505 Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies ISO RGD:1602119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies PMID:25741868|PMID:28343629|PMID:28492532|PMID:31147255|PMID:32181568|PMID:32924626 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:0050860 colorectal adenoma ISO RGD:735729 D RGD:9068941 20200609 RGD PMID:8264230|REF_RGD_ID:13210753 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:0050861 colorectal adenocarcinoma ISO RGD:735729 D RGD:9068941 20200609 RGD PMID:8264230|REF_RGD_ID:13210753 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:735729 D RGD:9068941 20220825 RGD mRNA,protein:increased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:0060001 withdrawal disorder ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15196791|PMID:15196794|PMID:18485423 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:1059 intellectual disability ISO RGD:735729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:10763 hypertension ISO RGD:2626 D RGD:9068941 20200609 RGD PMID:16696897|REF_RGD_ID:7242185 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:10763 hypertension ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12044476|PMID:24039778 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:11870 Pick's disease ISO RGD:735729 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex PMID:17548164|REF_RGD_ID:10047402 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:12098 trigeminal neuralgia ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:12554 hemolytic-uremic syndrome ISO RGD:10596 D RGD:9068941 20200609 RGD PMID:15632024|REF_RGD_ID:7242276 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:13619 extrahepatic cholestasis ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:1824 status epilepticus ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16696126|PMID:18587450|PMID:18988310|PMID:7984056 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:1826 epilepsy ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15973680 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:1984 rectal benign neoplasm ISO RGD:735729 D RGD:9068941 20200609 RGD PMID:21975339|REF_RGD_ID:13210759 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:2030 anxiety disorder ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16488545 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:289 endometriosis ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23284138 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:2921 glomerulonephritis ISO RGD:2626 D RGD:9068941 20200609 RGD PMID:11880336|REF_RGD_ID:7242278 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:3525 middle cerebral artery infarction ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:3602 toxic encephalopathy ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19220411 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:3744 cervical squamous cell carcinoma disease_progression ISO RGD:735729 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:15514944|REF_RGD_ID:2293757 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:4001 ovarian carcinoma ISO RGD:735729 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:6000 congestive heart failure ISO RGD:2626 D RGD:9068941 20200609 RGD PMID:15623567|REF_RGD_ID:2293777 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:630 genetic disease ISO RGD:735729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:670 amphetamine abuse ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19689456 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:684 hepatocellular carcinoma ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560|PMID:9029167 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:863 nervous system disease ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12890883 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:735729 D RGD:9068941 20200609 RGD protein: increased expression: kidney PMID:16049073|REF_RGD_ID:7242198 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9000363 Hematuria treatment ISO RGD:2626 D RGD:9068941 20200609 RGD PMID:22634839|REF_RGD_ID:7242178 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9000998 Brain Injuries ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9630518 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9002211 Hyperalgesia ISO RGD:2626 D RGD:9068941 20200609 RGD protein:increased expression:dorsal horn of spinal cord, neuron PMID:22160634|REF_RGD_ID:9999169 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9002211 Hyperalgesia ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9002362 Hyperkinesis ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18355967 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9002928 Colonic Neoplasms ISO RGD:735729 D RGD:9068941 20200609 RGD PMID:21344377|REF_RGD_ID:13210752 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9004009 Reperfusion Injury ISO RGD:2626 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:15121240|REF_RGD_ID:2293779 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9004009 Reperfusion Injury ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7922267 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9004649 Heat Stroke ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9005100 Aberrant Crypt Foci ISO RGD:2626 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:colon, epithelial cell PMID:1576709|REF_RGD_ID:13210754 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9005100 Aberrant Crypt Foci treatment ISO RGD:2626 D RGD:9068941 20200609 RGD PMID:8449605|REF_RGD_ID:13432056 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9005172 Lung Neoplasms ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16289808 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17276011|PMID:18311559|PMID:19533625 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9005873 Tongue Neoplasms ISO RGD:2626 D RGD:9068941 20200609 RGD protein:increased expression:tongue epithelium PMID:14674993|REF_RGD_ID:2293780 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9006205 Animal Disease Models ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10596 D RGD:9068941 20200609 RGD PMID:19095962|REF_RGD_ID:7242184 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8777434 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9008217 Hemorrhage ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7844257 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9008267 Fibrous Dysplasia of Bone ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7739708 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9008331 Tendon Injuries treatment ISO RGD:2626 D RGD:9068941 20200609 RGD PMID:23519232|REF_RGD_ID:10395300 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9008443 Colorectal Neoplasms treatment ISO RGD:10596 D RGD:9068941 20200609 RGD PMID:11481418|REF_RGD_ID:13210758 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9008443 Colorectal Neoplasms treatment ISO RGD:735729 D RGD:9068941 20200609 RGD PMID:9781601|REF_RGD_ID:13210756 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9008939 Breast Neoplasms ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 12065796 FOS Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9970 obesity ISO RGD:735729 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27071101 12065806 ERMN ermin gene DOID:0060041 autism spectrum disorder ISO RGD:1318095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12065806 ERMN ermin gene DOID:630 genetic disease ISO RGD:1318095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065813 RAB3B RAB3B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:736582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065828 PABPN1L PABPN1 like, cytoplasmic gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:3078328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 12065828 PABPN1L PABPN1 like, cytoplasmic gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:3078328 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12065828 PABPN1L PABPN1 like, cytoplasmic gene DOID:14780 KBG syndrome ISO RGD:3078328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31690835 12065828 PABPN1L PABPN1 like, cytoplasmic gene DOID:630 genetic disease ISO RGD:3078328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065828 PABPN1L PABPN1 like, cytoplasmic gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:3078328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12065841 TAL1 TAL bHLH transcription factor 1, erythroid differentiation factor gene DOID:1037 lymphoid leukemia ISO RGD:1315544 D RGD:9068941 20220825 MouseDO 12065841 TAL1 TAL bHLH transcription factor 1, erythroid differentiation factor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1315543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19246562|PMID:24394663 12065841 TAL1 TAL bHLH transcription factor 1, erythroid differentiation factor gene DOID:630 genetic disease ISO RGD:1315543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065841 TAL1 TAL bHLH transcription factor 1, erythroid differentiation factor gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1315543 D RGD:7240710 20230505 OMIM 12065855 TPD52L2 TPD52 like 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1352243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12065855 TPD52L2 TPD52 like 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1352243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12065855 TPD52L2 TPD52 like 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1352243 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12065855 TPD52L2 TPD52 like 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1352243 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12065855 TPD52L2 TPD52 like 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1352243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12065855 TPD52L2 TPD52 like 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1352243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12065855 TPD52L2 TPD52 like 2 gene DOID:630 genetic disease ISO RGD:1352243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065888 RCHY1 ring finger and CHY zinc finger domain containing 1 gene DOID:11446 sciatic neuropathy ISO RGD:1359180 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve PMID:21959983|REF_RGD_ID:10045367 12065888 RCHY1 ring finger and CHY zinc finger domain containing 1 gene DOID:630 genetic disease ISO RGD:1353437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065888 RCHY1 ring finger and CHY zinc finger domain containing 1 gene DOID:9000918 Disease Progression ISO RGD:1353437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191284 12065888 RCHY1 ring finger and CHY zinc finger domain containing 1 gene DOID:9000998 Brain Injuries ISO RGD:1359180 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:21728064|REF_RGD_ID:10045359 12065888 RCHY1 ring finger and CHY zinc finger domain containing 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1353437 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12065888 RCHY1 ring finger and CHY zinc finger domain containing 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1353437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191284 12065924 LLPH LLP homolog, long-term synaptic facilitation factor gene DOID:630 genetic disease ISO RGD:1604260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065931 BBIP1 BBSome interacting protein 1 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:2300355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 12065931 BBIP1 BBSome interacting protein 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:2300355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia 12065931 BBIP1 BBSome interacting protein 1 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:2300355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:24026985 12065931 BBIP1 BBSome interacting protein 1 gene DOID:0110140 Bardet-Biedl syndrome 18 ISO RGD:2300355 D RGD:7240710 20180130 OMIM 12065931 BBIP1 BBSome interacting protein 1 gene DOID:0110140 Bardet-Biedl syndrome 18 ISO RGD:2300355 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 18 PMID:17576681|PMID:24026985|PMID:25741868|PMID:28492532|PMID:32055034|PMID:32552793|PMID:9536098 12065931 BBIP1 BBSome interacting protein 1 gene DOID:0110447 dilated cardiomyopathy 1DD ISO RGD:2300355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532 12065931 BBIP1 BBSome interacting protein 1 gene DOID:630 genetic disease ISO RGD:2300355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12065944 LOC100686358 keratin-associated protein 13-1-like gene DOID:630 genetic disease ISO RGD:1345812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065952 LOC100855582 ubiquitin carboxyl-terminal hydrolase 17-like protein 6 gene DOID:630 genetic disease ISO RGD:2800946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065953 SPNS1 SPNS lysolipid transporter 1, lysophospholipid gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1602314 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 12065953 SPNS1 SPNS lysolipid transporter 1, lysophospholipid gene DOID:10316 pneumoconiosis ISO RGD:1602314 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 12065953 SPNS1 SPNS lysolipid transporter 1, lysophospholipid gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 12065953 SPNS1 SPNS lysolipid transporter 1, lysophospholipid gene DOID:5419 schizophrenia ISO RGD:1602314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12065953 SPNS1 SPNS lysolipid transporter 1, lysophospholipid gene DOID:630 genetic disease ISO RGD:1602314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12065953 SPNS1 SPNS lysolipid transporter 1, lysophospholipid gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1602314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 12065977 MIR219-2 microRNA mir-219-2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353680 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12065977 MIR219-2 microRNA mir-219-2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1353680 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12065977 MIR219-2 microRNA mir-219-2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353680 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12066033 AK6 adenylate kinase 6 gene DOID:630 genetic disease ISO RGD:7382322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066042 MIRLET7D microRNA let-7d gene DOID:0060071 pre-malignant neoplasm ISO RGD:1343706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12066042 MIRLET7D microRNA let-7d gene DOID:11394 adult respiratory distress syndrome ISO RGD:1343706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12066042 MIRLET7D microRNA let-7d gene DOID:12642 hiatus hernia ISO RGD:1343706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hiatus hernia 12066042 MIRLET7D microRNA let-7d gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1343706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12066042 MIRLET7D microRNA let-7d gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1343706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12066042 MIRLET7D microRNA let-7d gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12066061 ALKBH6 alkB homolog 6 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1605913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12066061 ALKBH6 alkB homolog 6 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605913 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12066061 ALKBH6 alkB homolog 6 gene DOID:630 genetic disease ISO RGD:1605913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:0060041 autism spectrum disorder ISO RGD:730900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:0080472 developmental and epileptic encephalopathy 91 ISO RGD:730900 D RGD:7240710 20190315 OMIM 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:0080472 developmental and epileptic encephalopathy 91 ISO RGD:730900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood, 1 PMID:17576681|PMID:25262651|PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30904718|PMID:32238909|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402|PMID:9536098 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:12858 Huntington's disease ISO RGD:11134 D RGD:9068941 20200609 RGD PMID:19733666|REF_RGD_ID:6483320 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:11134 D RGD:9068941 20220825 MouseDO 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:730900 D RGD:9068941 20200609 RGD PMID:26436650|REF_RGD_ID:13515117 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:1826 epilepsy ISO RGD:730900 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25262651|PMID:25741868|PMID:28942967|PMID:29432562 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:2519 testicular disease ISO RGD:730900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17785681 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:2519 testicular disease treatment ISO RGD:11134 D RGD:9068941 20200609 RGD associated with Cadmium Poisoning PMID:17785681|REF_RGD_ID:13515119 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:3633 beta-mannosidosis ISO RGD:730900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:3910 lung adenocarcinoma ISO RGD:730900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:4001 ovarian carcinoma ISO RGD:730900 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:30365097 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:730900 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:4989 pancreatitis ISO RGD:730900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22952646 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:5419 schizophrenia ISO RGD:730900 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:15820226|REF_RGD_ID:13515121 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:557 kidney disease ISO RGD:3382 D RGD:9068941 20200609 RGD PMID:27009276|REF_RGD_ID:11537650 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:630 genetic disease ISO RGD:730900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25262651|PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:893 Wilson disease ISO RGD:730900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:9000998 Brain Injuries ISO RGD:3382 D RGD:9068941 20200609 RGD protein: :hippocampus PMID:19751097|REF_RGD_ID:6483311 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:9000998 Brain Injuries ISO RGD:730900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14499481 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:9001596 Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development ISO RGD:730900 D RGD:7240710 20190315 OMIM 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:9001596 Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development ISO RGD:730900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development PMID:25741868|PMID:28492532|PMID:29432562|PMID:30904718 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:730900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:9003936 Cardiomegaly ISO RGD:11134 D RGD:9068941 20200609 RGD PMID:12515860|REF_RGD_ID:734902 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:9004009 Reperfusion Injury ISO RGD:3382 D RGD:9068941 20200609 RGD PMID:14762344|REF_RGD_ID:1580702 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:11134 D RGD:9068941 20200609 RGD PMID:15336966|PMID:9568714|REF_RGD_ID:1579951|REF_RGD_ID:1579956 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:730900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18344631 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:9005141 Ventricular Tachycardia ISO RGD:11134 D RGD:9068941 20200609 RGD PMID:15537502|REF_RGD_ID:1580701 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:11134 D RGD:9068941 20200609 RGD PMID:9568714|REF_RGD_ID:1579956 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3382 D RGD:9068941 20200609 RGD PMID:16799071|REF_RGD_ID:1580700 12066106 PPP3CA protein phosphatase 3 catalytic subunit alpha gene DOID:9008582 Developmental Disease ISO RGD:730900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12066131 EDN2 endothelin 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:737548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12066131 EDN2 endothelin 2 gene DOID:10591 pre-eclampsia ISO RGD:737548 D RGD:9068941 20200609 RGD PMID:9015697|REF_RGD_ID:1580919 12066131 EDN2 endothelin 2 gene DOID:10763 hypertension ISO RGD:737548 D RGD:9068941 20200609 RGD PMID:10489105|PMID:10976780|REF_RGD_ID:1580916|REF_RGD_ID:1580917 12066131 EDN2 endothelin 2 gene DOID:10763 hypertension ISO RGD:737548 D RGD:9068941 20200609 RGD mRNA:increased expression:leukocyte PMID:15007037|REF_RGD_ID:1625402 12066131 EDN2 endothelin 2 gene DOID:5844 myocardial infarction ISO RGD:2533 D RGD:9068941 20200609 RGD PMID:10573185|REF_RGD_ID:1580921 12066131 EDN2 endothelin 2 gene DOID:630 genetic disease ISO RGD:737548 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066131 EDN2 endothelin 2 gene DOID:6432 pulmonary hypertension ISO RGD:737548 D RGD:9068941 20200609 RGD PMID:10598486|REF_RGD_ID:1580918 12066131 EDN2 endothelin 2 gene DOID:9004009 Reperfusion Injury ISO RGD:2533 D RGD:9068941 20200609 RGD PMID:1479622|REF_RGD_ID:1580920 12066131 EDN2 endothelin 2 gene DOID:9004080 Aortic Rupture ISO RGD:737548 D RGD:9068941 20200609 RGD PMID:11947982|REF_RGD_ID:1580915 12066131 EDN2 endothelin 2 gene DOID:9006024 Hypotension ISO RGD:737548 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1309933 12066131 EDN2 endothelin 2 gene DOID:9006045 Dissecting Aneurysm ISO RGD:737548 D RGD:9068941 20200609 RGD PMID:11947982|REF_RGD_ID:1580915 12066131 EDN2 endothelin 2 gene DOID:9007001 Bradycardia ISO RGD:737548 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1309933 12066143 CAPS calcyphosine gene DOID:630 genetic disease ISO RGD:1348480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066151 ZNF618 zinc finger protein 618 gene DOID:630 genetic disease ISO RGD:1321825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066170 CYB5R4 cytochrome b5 reductase 4 gene DOID:630 genetic disease ISO RGD:733318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066170 CYB5R4 cytochrome b5 reductase 4 gene DOID:9351 diabetes mellitus ISO RGD:1622875 D RGD:9068941 20200609 RGD PMID:15247412|REF_RGD_ID:2315644 12066170 CYB5R4 cytochrome b5 reductase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1622875 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 12066170 CYB5R4 cytochrome b5 reductase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733318 D RGD:9068941 20200609 RGD DNA:deletion:intron:IVSV+7TC (human) PMID:15504981|REF_RGD_ID:2315647 12066190 RNF11 ring finger protein 11 gene DOID:630 genetic disease ISO RGD:1314582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066208 MRPS5 mitochondrial ribosomal protein S5 gene DOID:3910 lung adenocarcinoma ISO RGD:1318020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12066208 MRPS5 mitochondrial ribosomal protein S5 gene DOID:630 genetic disease ISO RGD:1318020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066208 MRPS5 mitochondrial ribosomal protein S5 gene DOID:9006205 Animal Disease Models ISO RGD:1318020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12066224 AADAC arylacetamide deacetylase gene DOID:0110636 congenital merosin-deficient muscular dystrophy 1A ISO RGD:737554 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital merosin-deficient muscular dystrophy 1A PMID:21681106|PMID:25666259|PMID:27854218 12066224 AADAC arylacetamide deacetylase gene DOID:5426 primary ovarian insufficiency ISO RGD:737554 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary Ovarian Insufficiency PMID:21681106|PMID:25666259|PMID:27854218 12066224 AADAC arylacetamide deacetylase gene DOID:630 genetic disease ISO RGD:737554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066224 AADAC arylacetamide deacetylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12066224 AADAC arylacetamide deacetylase gene DOID:9006101 Primary Ovarian Failure ISO RGD:737554 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary ovarian failure PMID:21681106|PMID:25666259|PMID:27854218 12066233 CAPRIN2 caprin family member 2 gene DOID:630 genetic disease ISO RGD:1604605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066256 VPS8 VPS8 subunit of CORVET complex gene DOID:0111546 Currarino syndrome ISO RGD:1603690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12066256 VPS8 VPS8 subunit of CORVET complex gene DOID:630 genetic disease ISO RGD:1603690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066256 VPS8 VPS8 subunit of CORVET complex gene DOID:9006836 Contracture ISO RGD:1603690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures PMID:26752647 12066315 C6 complement C6 gene DOID:0060299 complement component 6 deficiency ISO RGD:1352972 D RGD:7240710 20180130 OMIM 12066315 C6 complement C6 gene DOID:0060299 complement component 6 deficiency ISO RGD:1352972 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Complement component 6 deficiency PMID:10632667|PMID:12653841|PMID:16199547|PMID:17257682|PMID:17576681|PMID:22288589|PMID:22668955|PMID:23537992|PMID:24033266|PMID:24378253|PMID:25741868|PMID:28368462|PMID:28492532|PMID:31440263|PMID:32860008|PMID:7535801|PMID:8512929|PMID:8690922|PMID:8871666|PMID:9472666|PMID:9536098|PMID:9856498 12066315 C6 complement C6 gene DOID:0110245 cataract 38 ISO RGD:1352972 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cataract 38 PMID:10632667|PMID:12653841|PMID:17257682|PMID:22288589|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8512929|PMID:8690922|PMID:9472666|PMID:9856498 12066315 C6 complement C6 gene DOID:182 calcinosis ISO RGD:1352972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12066315 C6 complement C6 gene DOID:2921 glomerulonephritis ISO RGD:2238 D RGD:9068941 20200609 RGD PMID:10807586|REF_RGD_ID:1600489 12066315 C6 complement C6 gene DOID:4079 heart valve disease ISO RGD:1352972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12066315 C6 complement C6 gene DOID:576 proteinuria ISO RGD:2238 D RGD:9068941 20200609 RGD associated with Glomerulonephritis PMID:2672823|REF_RGD_ID:1600682 12066315 C6 complement C6 gene DOID:626 complement deficiency ISO RGD:1352972 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency due to a late component of complement deficiency PMID:10632667|PMID:12653841|PMID:17257682|PMID:22288589|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8512929|PMID:8690922|PMID:9472666|PMID:9856498 12066315 C6 complement C6 gene DOID:630 genetic disease ISO RGD:1352972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12066315 C6 complement C6 gene DOID:783 end stage renal disease severity ISO RGD:2238 D RGD:9068941 20200609 RGD PMID:11912252|REF_RGD_ID:1600675 12066315 C6 complement C6 gene DOID:9001285 Alcoholic Liver Diseases resistance ISO RGD:2238 D RGD:9068941 20200609 RGD PMID:15351314|REF_RGD_ID:1600673 12066315 C6 complement C6 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis severity ISO RGD:2238 D RGD:9068941 20200609 RGD PMID:11970970|REF_RGD_ID:625607 12066315 C6 complement C6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12066315 C6 complement C6 gene DOID:9004484 Sepsis severity ISO RGD:2238 D RGD:9068941 20200609 RGD PMID:15638131|REF_RGD_ID:1600672 12066315 C6 complement C6 gene DOID:9006362 C6 Deficiency, Subtotal ISO RGD:1352972 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: C6 deficiency, subtotal PMID:16199547|PMID:17257682|PMID:24378253|PMID:25741868|PMID:28492532|PMID:7535801|PMID:8871666 12066315 C6 complement C6 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis susceptibility ISO RGD:2238 D RGD:9068941 20200609 RGD PMID:17034580|REF_RGD_ID:1600670 12066352 STRN3 striatin 3 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:737101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 12066352 STRN3 striatin 3 gene DOID:630 genetic disease ISO RGD:737101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066352 STRN3 striatin 3 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:737101 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12066385 NEUROG1 neurogenin 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352814 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12066385 NEUROG1 neurogenin 1 gene DOID:630 genetic disease ISO RGD:1352814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066385 NEUROG1 neurogenin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12066385 NEUROG1 neurogenin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12066385 NEUROG1 neurogenin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352814 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12066389 TMCC3 transmembrane and coiled-coil domain family 3 gene DOID:2661 myoepithelioma ISO RGD:1346901 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12066389 TMCC3 transmembrane and coiled-coil domain family 3 gene DOID:630 genetic disease ISO RGD:1346901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066406 LGI4 leucine rich repeat LGI family member 4 gene DOID:0080978 arthrogryposis multiplex congenita-1 ISO RGD:1344124 D RGD:7240710 20190315 OMIM 12066406 LGI4 leucine rich repeat LGI family member 4 gene DOID:0080978 arthrogryposis multiplex congenita-1 ISO RGD:1344124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect PMID:25741868|PMID:25954003|PMID:27618451|PMID:28318499|PMID:28490743|PMID:28492532|PMID:32860008 12066406 LGI4 leucine rich repeat LGI family member 4 gene DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 ISO RGD:1344124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 2, neurogenic type PMID:25741868 12066406 LGI4 leucine rich repeat LGI family member 4 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1344124 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12066406 LGI4 leucine rich repeat LGI family member 4 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1344124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12066406 LGI4 leucine rich repeat LGI family member 4 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1344124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12066406 LGI4 leucine rich repeat LGI family member 4 gene DOID:1825 childhood absence epilepsy ISO RGD:1344124 D RGD:9068941 20200609 RGD DNA:point mutation: :c.1914G>A (human) PMID:14505228|REF_RGD_ID:1302591 12066406 LGI4 leucine rich repeat LGI family member 4 gene DOID:543 dystonia ISO RGD:1344124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12066406 LGI4 leucine rich repeat LGI family member 4 gene DOID:630 genetic disease ISO RGD:1344124 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25954003|PMID:27618451|PMID:28318499|PMID:28490743|PMID:28492532 12066419 TRIM68 tripartite motif containing 68 gene DOID:0080773 delta beta-thalassemia ISO RGD:1344713 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12066419 TRIM68 tripartite motif containing 68 gene DOID:630 genetic disease ISO RGD:1344713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066441 C24H20orf96 chromosome 24 C20orf96 homolog gene DOID:630 genetic disease ISO RGD:1346131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066441 C24H20orf96 chromosome 24 C20orf96 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12066459 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:0060027 agammaglobulinemia 4 ISO RGD:733329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:28492532 12066459 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:0060374 orofaciodigital syndrome IV ISO RGD:733329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Orofacial-digital syndrome IV PMID:28492532 12066459 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:0110815 hereditary spastic paraplegia 64 ISO RGD:733329 D RGD:7240710 20180130 OMIM 12066459 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:0110815 hereditary spastic paraplegia 64 ISO RGD:733329 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 64 PMID:17576681|PMID:24482476|PMID:25741868|PMID:28492532|PMID:29691679|PMID:30652007|PMID:35471564|PMID:9536098 12066459 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:1059 intellectual disability ISO RGD:733329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12066459 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:10591 pre-eclampsia ISO RGD:733329 D RGD:9068941 20200609 RGD protein:decreased expression:abdominal fascia: PMID:17469012|REF_RGD_ID:9685457 12066459 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:1459 hypothyroidism ISO RGD:69265 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased activity:hippocampus: PMID:15811553|REF_RGD_ID:9685476 12066459 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:1852 intrahepatic cholestasis ISO RGD:69265 D RGD:9068941 20200609 RGD protein:decreased activity,altered location:liver: PMID:11383876|REF_RGD_ID:9685454 12066459 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:224 transient cerebral ischemia ISO RGD:69265 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:9634555|REF_RGD_ID:9685492 12066459 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:733329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 12066459 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:3213 demyelinating disease ISO RGD:69265 D RGD:9068941 20200609 RGD PMID:17239402|REF_RGD_ID:9685485 12066459 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:630 genetic disease ISO RGD:733329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12066459 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9001036 Penetrating Head Injuries ISO RGD:69265 D RGD:9068941 20200609 RGD protein:increased expression,increased activity:cerebral cortex: PMID:16672190|REF_RGD_ID:9685448 12066459 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9002514 Neointima treatment ISO RGD:733329 D RGD:9068941 20200609 RGD PMID:18485080|REF_RGD_ID:9685444 12066459 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:69265 D RGD:9068941 20200609 RGD PMID:19524108|REF_RGD_ID:9685491 12066459 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9004283 Transplant Rejection ISO RGD:733330 D RGD:9068941 20200609 RGD PMID:10656876|REF_RGD_ID:9685445 12066459 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9004484 Sepsis ISO RGD:69265 D RGD:9068941 20200609 RGD protein:increased activity:lymphocyte: PMID:22645477|REF_RGD_ID:9685487 12066459 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69265 D RGD:9068941 20200609 RGD protein,mRNA:increased expression:glial cell, retina: PMID:18687327|REF_RGD_ID:9685473 12066459 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69265 D RGD:9068941 20200609 RGD protein:enzyme activity:platelet PMID:17119848|REF_RGD_ID:9685486 12066459 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9005725 Iron Overload ISO RGD:69265 D RGD:9068941 20200609 RGD protein:enzyme activity:platelet PMID:17119848|REF_RGD_ID:9685486 12066459 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:733329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 12066459 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9008217 Hemorrhage ISO RGD:733330 D RGD:9068941 20200609 RGD PMID:10470077|REF_RGD_ID:735004 12066501 RAP1GDS1 Rap1 GTPase-GDP dissociation stimulator 1 gene DOID:630 genetic disease ISO RGD:1318400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066520 RNF39 ring finger protein 39 gene DOID:11372 megacolon ISO RGD:1604283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12066520 RNF39 ring finger protein 39 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1604283 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 12066520 RNF39 ring finger protein 39 gene DOID:630 genetic disease ISO RGD:1604283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066520 RNF39 ring finger protein 39 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12066532 DFFB DNA fragmentation factor subunit beta gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:731033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12066532 DFFB DNA fragmentation factor subunit beta gene DOID:11372 megacolon ISO RGD:731033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12066532 DFFB DNA fragmentation factor subunit beta gene DOID:224 transient cerebral ischemia ISO RGD:620335 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus CA1 PMID:11425895|REF_RGD_ID:628524 12066532 DFFB DNA fragmentation factor subunit beta gene DOID:630 genetic disease ISO RGD:731033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066532 DFFB DNA fragmentation factor subunit beta gene DOID:9004203 Chromosome Breakage ISO RGD:731033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31401084 12066532 DFFB DNA fragmentation factor subunit beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12066550 TNFAIP1 TNF alpha induced protein 1 gene DOID:630 genetic disease ISO RGD:1346510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066550 TNFAIP1 TNF alpha induced protein 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1346510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20665664 12066561 ACR acrosin gene DOID:0060041 autism spectrum disorder ISO RGD:736688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984749|PMID:21984750|PMID:21984751|PMID:25255310 12066561 ACR acrosin gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:736688 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12066561 ACR acrosin gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:736688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12066561 ACR acrosin gene DOID:1059 intellectual disability ISO RGD:736688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31690835 12066561 ACR acrosin gene DOID:630 genetic disease ISO RGD:736688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066573 FAM110C family with sequence similarity 110 member C gene DOID:630 genetic disease ISO RGD:1606851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066581 INHBC inhibin subunit beta C gene DOID:630 genetic disease ISO RGD:733811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066581 INHBC inhibin subunit beta C gene DOID:6846 familial melanoma ISO RGD:733811 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 12066581 INHBC inhibin subunit beta C gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12066587 MORN1 MORN repeat containing 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1602465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12066587 MORN1 MORN repeat containing 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12066587 MORN1 MORN repeat containing 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1602465 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12066587 MORN1 MORN repeat containing 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1602465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12066587 MORN1 MORN repeat containing 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1602465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12066587 MORN1 MORN repeat containing 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:1602465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12066587 MORN1 MORN repeat containing 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:1602465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12066587 MORN1 MORN repeat containing 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1602465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12066587 MORN1 MORN repeat containing 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1602465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12066587 MORN1 MORN repeat containing 1 gene DOID:630 genetic disease ISO RGD:1602465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066587 MORN1 MORN repeat containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12066587 MORN1 MORN repeat containing 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1602465 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12066587 MORN1 MORN repeat containing 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1602465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12066621 SREK1IP1 SREK1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1604479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066621 SREK1IP1 SREK1 interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12066630 FAM8A1 family with sequence similarity 8 member A1 gene DOID:630 genetic disease ISO RGD:1351875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066639 RIPPLY2 ripply transcriptional repressor 2 gene DOID:0050568 spondylocostal dysostosis ISO RGD:1318698 D RGD:9068941 20220825 MouseDO OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686 12066639 RIPPLY2 ripply transcriptional repressor 2 gene DOID:0080590 Klippel-Feil syndrome 2 ISO RGD:1604749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 2, autosomal recessive PMID:25343988|PMID:26238661 12066639 RIPPLY2 ripply transcriptional repressor 2 gene DOID:0112360 spondylocostal dysostosis 6 ISO RGD:1604749 D RGD:7240710 20180130 OMIM 12066639 RIPPLY2 ripply transcriptional repressor 2 gene DOID:0112360 spondylocostal dysostosis 6 ISO RGD:1604749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 6, autosomal recessive PMID:25343988|PMID:25741868|PMID:28492532 12066639 RIPPLY2 ripply transcriptional repressor 2 gene DOID:0112362 spondylocostal dysostosis 2 ISO RGD:1604749 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive PMID:25343988|PMID:25741868|PMID:28492532 12066639 RIPPLY2 ripply transcriptional repressor 2 gene DOID:630 genetic disease ISO RGD:1604749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12066639 RIPPLY2 ripply transcriptional repressor 2 gene DOID:9006006 Spondylocostal Dysostosis, Autosomal Recessive ISO RGD:1604749 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12066653 TMEM121 transmembrane protein 121 gene DOID:2661 myoepithelioma ISO RGD:1606775 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12066653 TMEM121 transmembrane protein 121 gene DOID:630 genetic disease ISO RGD:1606775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066665 EXOC3L4 exocyst complex component 3 like 4 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1349636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12066665 EXOC3L4 exocyst complex component 3 like 4 gene DOID:12849 autistic disorder ISO RGD:1349636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12066665 EXOC3L4 exocyst complex component 3 like 4 gene DOID:630 genetic disease ISO RGD:1349636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066665 EXOC3L4 exocyst complex component 3 like 4 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1349636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 12066681 LRRC75A leucine rich repeat containing 75A gene DOID:630 genetic disease ISO RGD:1604449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066705 LYVE1 lymphatic vessel endothelial hyaluronan receptor 1 gene DOID:630 genetic disease ISO RGD:1322012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066705 LYVE1 lymphatic vessel endothelial hyaluronan receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1322012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12066793 P2RX4 purinergic receptor P2X 4 gene DOID:0080600 COVID-19 ISO RGD:732285 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12066793 P2RX4 purinergic receptor P2X 4 gene DOID:1826 epilepsy ISO RGD:732285 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12941474 12066793 P2RX4 purinergic receptor P2X 4 gene DOID:3328 temporal lobe epilepsy ISO RGD:732285 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19084381 12066793 P2RX4 purinergic receptor P2X 4 gene DOID:6000 congestive heart failure ISO RGD:62073 D RGD:9068941 20200609 RGD associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum PMID:16497176|REF_RGD_ID:1642301 12066793 P2RX4 purinergic receptor P2X 4 gene DOID:630 genetic disease ISO RGD:732285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066793 P2RX4 purinergic receptor P2X 4 gene DOID:9001240 Peripheral Nerve Injuries sexual_dimorphism ISO RGD:62073 D RGD:9068941 20210122 RGD in male rat; protein:increased expression:microglia PMID:29927790|REF_RGD_ID:40924654 12066793 P2RX4 purinergic receptor P2X 4 gene DOID:9002211 Hyperalgesia treatment ISO RGD:62073 D RGD:9068941 20210122 RGD associated with Peripheral Nerve Injuries; PMID:29927790|REF_RGD_ID:40924654 12066809 ANAPC15 anaphase promoting complex subunit 15 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1601769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 12066809 ANAPC15 anaphase promoting complex subunit 15 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1601769 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12066809 ANAPC15 anaphase promoting complex subunit 15 gene DOID:0110515 autosomal recessive nonsyndromic deafness 63 ISO RGD:1601769 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 63 PMID:24033266|PMID:25741868|PMID:25788562|PMID:26467025|PMID:28492532 12066809 ANAPC15 anaphase promoting complex subunit 15 gene DOID:1059 intellectual disability ISO RGD:1601769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12066809 ANAPC15 anaphase promoting complex subunit 15 gene DOID:630 genetic disease ISO RGD:1601769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12066809 ANAPC15 anaphase promoting complex subunit 15 gene DOID:9004538 Hearing Loss ISO RGD:1601769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 12066834 DRGX dorsal root ganglia homeobox gene DOID:11372 megacolon ISO RGD:1353814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12066834 DRGX dorsal root ganglia homeobox gene DOID:5419 schizophrenia ISO RGD:1353814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12066844 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1602120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12066844 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:0090019 sitosterolemia ISO RGD:1602120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sitosterolemia PMID:11138003|PMID:11452359|PMID:11668628|PMID:11855938|PMID:11907139|PMID:15054092|PMID:15375183|PMID:16199547|PMID:17228349|PMID:17576681|PMID:17976197|PMID:19111681|PMID:19667188|PMID:20521169|PMID:20543520|PMID:20719861|PMID:21576934|PMID:21729603|PMID:24033266|PMID:24166850|PMID:24423340|PMID:24503134|PMID:25525159|PMID:25665839|PMID:25741868|PMID:26813946|PMID:26892138|PMID:27884173|PMID:28203044|PMID:28492532|PMID:28521186|PMID:28696550|PMID:28771437|PMID:29055934|PMID:29066094|PMID:29353225|PMID:29886606|PMID:30007774|PMID:30528907|PMID:30697800|PMID:30782472|PMID:30833958|PMID:30985648|PMID:31060161|PMID:31064749|PMID:31589614|PMID:31795497|PMID:31901240|PMID:32041611|PMID:32088153|PMID:32166861|PMID:32275988|PMID:32862661|PMID:33217533|PMID:33269076|PMID:33642439|PMID:34505049|PMID:34969652|PMID:9536098 12066844 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1602120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 PMID:17576681|PMID:26077881|PMID:26130459|PMID:28492532|PMID:32815859|PMID:9536098 12066844 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1602120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:29068549 12066844 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:1588 thrombocytopenia ISO RGD:1602120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532|PMID:31064749|PMID:32088153 12066844 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:2213 hemorrhagic disease ISO RGD:1602120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 12066844 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:3883 Lynch syndrome ISO RGD:1602120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12066844 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:630 genetic disease ISO RGD:1602120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12066844 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:9001723 Sitosterolemia 2 ISO RGD:1602120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sitosterolemia 2 PMID:11099417|PMID:11138003|PMID:11907139|PMID:15054092|PMID:15375183|PMID:16029460|PMID:17228349|PMID:17976197|PMID:19111681|PMID:20521169|PMID:20543520|PMID:20719861|PMID:21729603|PMID:24033266|PMID:24166850|PMID:24423340|PMID:25525159|PMID:25665839|PMID:25741868|PMID:26813946|PMID:27884173|PMID:28203044|PMID:28492532|PMID:28521186|PMID:28696550|PMID:28771437|PMID:29055934|PMID:29353225|PMID:29886606|PMID:30007774|PMID:30528907|PMID:30697800|PMID:30782472|PMID:30833958|PMID:30985648|PMID:31060161|PMID:31064749|PMID:31589614|PMID:31901240|PMID:32041611|PMID:32088153|PMID:32166861|PMID:32275988|PMID:32862661|PMID:33217533|PMID:33269076|PMID:33642439|PMID:34355501|PMID:34505049|PMID:34969652 12066844 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:9002547 Sitosterolemia 1 ISO RGD:1602120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sitosterolemia 1 PMID:11668628|PMID:17228349|PMID:17976197|PMID:19111681|PMID:20521169|PMID:20719861|PMID:21729603|PMID:24033266|PMID:24166850|PMID:24423340|PMID:24503134|PMID:25525159|PMID:25665839|PMID:25741868|PMID:26813946|PMID:27884173|PMID:28492532|PMID:28521186|PMID:28696550|PMID:29055934|PMID:29066094|PMID:29353225|PMID:29886606|PMID:30528907|PMID:30697800|PMID:30833958|PMID:31060161|PMID:31064749|PMID:31589614|PMID:32041611|PMID:32088153|PMID:32862661|PMID:33217533|PMID:33269076|PMID:34969652 12066844 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:9004314 Short-Rib Thoracic Dysplasia 15 with Polydactyly ISO RGD:1602120 D RGD:7240710 20190315 OMIM 12066844 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:9004314 Short-Rib Thoracic Dysplasia 15 with Polydactyly ISO RGD:1602120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 15 with polydactyly PMID:17576681|PMID:25741868|PMID:26077881|PMID:26130459|PMID:28492532|PMID:28857138|PMID:32815859|PMID:8960501|PMID:9536098 12066881 UHRF2 ubiquitin like with PHD and ring finger domains 2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1320632 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12066881 UHRF2 ubiquitin like with PHD and ring finger domains 2 gene DOID:630 genetic disease ISO RGD:1320632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066902 FBXO32 F-box protein 32 gene DOID:0060224 atrial fibrillation ISO RGD:734419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12066902 FBXO32 F-box protein 32 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:734419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12066902 FBXO32 F-box protein 32 gene DOID:630 genetic disease ISO RGD:734419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066902 FBXO32 F-box protein 32 gene DOID:767 muscular atrophy ISO RGD:620373 D RGD:9068941 20200609 RGD PMID:11679633|REF_RGD_ID:633893 12066902 FBXO32 F-box protein 32 gene DOID:767 muscular atrophy ISO RGD:734419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21139329 12066915 MFAP1 microfibril associated protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1321226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12066915 MFAP1 microfibril associated protein 1 gene DOID:630 genetic disease ISO RGD:1321226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066915 MFAP1 microfibril associated protein 1 gene DOID:9256 colorectal cancer ISO RGD:1321226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12066928 NOL7 nucleolar protein 7 gene DOID:630 genetic disease ISO RGD:1343047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066940 UBE3A ubiquitin protein ligase E3A gene DOID:0060041 autism spectrum disorder ISO RGD:1314934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 12066940 UBE3A ubiquitin protein ligase E3A gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1314934 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 12066940 UBE3A ubiquitin protein ligase E3A gene DOID:0111294 generalized epilepsy with febrile seizures plus 2 ISO RGD:1314934 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2 PMID:25741868 12066940 UBE3A ubiquitin protein ligase E3A gene DOID:1059 intellectual disability ISO RGD:1314934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:14981718|PMID:15054837|PMID:18414213|PMID:19213023|PMID:25212744|PMID:25326635|PMID:25741868|PMID:28492532|PMID:9887341 12066940 UBE3A ubiquitin protein ligase E3A gene DOID:11983 Prader-Willi syndrome ISO RGD:1314934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 12066940 UBE3A ubiquitin protein ligase E3A gene DOID:12849 autistic disorder ISO RGD:1314934 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 12066940 UBE3A ubiquitin protein ligase E3A gene DOID:1826 epilepsy ISO RGD:1314934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15878204 12066940 UBE3A ubiquitin protein ligase E3A gene DOID:1932 Angelman syndrome ISO RGD:1314934 D RGD:7240710 20180130 OMIM 12066940 UBE3A ubiquitin protein ligase E3A gene DOID:1932 Angelman syndrome ISO RGD:1314934 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:10647895|PMID:11748306|PMID:12210318|PMID:12725589|PMID:14981718|PMID:15054837|PMID:15150776|PMID:15263005|PMID:16199547|PMID:16470747|PMID:17576681|PMID:17765640|PMID:17940072|PMID:18414213|PMID:18821858|PMID:19213023|PMID:20034088|PMID:21072004|PMID:22190369|PMID:22670133|PMID:2309781|PMID:23495136|PMID:23708187|PMID:24088041|PMID:24796722|PMID:24876791|PMID:25099823|PMID:25212744|PMID:25326635|PMID:25326637|PMID:25741868|PMID:25884337|PMID:26068938|PMID:26219744|PMID:26255772|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26993267|PMID:27864847|PMID:28281572|PMID:28492532|PMID:29162042|PMID:29188609|PMID:29655203|PMID:29737008|PMID:29758562|PMID:29915382|PMID:31235931|PMID:34906502|PMID:8988171|PMID:8988172|PMID:9536098|PMID:9585605|PMID:9792887|PMID:9887341 12066940 UBE3A ubiquitin protein ligase E3A gene DOID:1932 Angelman syndrome treatment ISO RGD:1314935 D RGD:9068941 20200609 RGD PMID:25470045|PMID:25866966|REF_RGD_ID:12859273|REF_RGD_ID:12859274 12066940 UBE3A ubiquitin protein ligase E3A gene DOID:5419 schizophrenia ISO RGD:1314934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12066940 UBE3A ubiquitin protein ligase E3A gene DOID:630 genetic disease ISO RGD:1314934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14981718|PMID:15054837|PMID:15263005|PMID:16470747|PMID:17765640|PMID:17940072|PMID:18414213|PMID:19213023|PMID:22670133|PMID:2309781|PMID:24876791|PMID:25212744|PMID:25326635|PMID:25741868|PMID:25884337|PMID:26219744|PMID:26255772|PMID:26467025|PMID:28492532|PMID:29188609|PMID:8988171|PMID:9887341 12066940 UBE3A ubiquitin protein ligase E3A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12066940 UBE3A ubiquitin protein ligase E3A gene DOID:9008086 Developmental Disabilities ISO RGD:1314934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12066940 UBE3A ubiquitin protein ligase E3A gene DOID:9008582 Developmental Disease ISO RGD:1314934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12066940 UBE3A ubiquitin protein ligase E3A gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1314934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15878204 12066983 BAIAP2L1 BAR/IMD domain containing adaptor protein 2 like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12066983 BAIAP2L1 BAR/IMD domain containing adaptor protein 2 like 1 gene DOID:630 genetic disease ISO RGD:1352215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12066983 BAIAP2L1 BAR/IMD domain containing adaptor protein 2 like 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1352215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 12067005 MED13 mediator complex subunit 13 gene DOID:0060041 autism spectrum disorder ISO RGD:1312495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12067005 MED13 mediator complex subunit 13 gene DOID:0070068 autosomal dominant intellectual developmental disorder 38 ISO RGD:1312495 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38 PMID:25741868 12067005 MED13 mediator complex subunit 13 gene DOID:1059 intellectual disability ISO RGD:1312495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12067005 MED13 mediator complex subunit 13 gene DOID:11372 megacolon ISO RGD:1312495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12067005 MED13 mediator complex subunit 13 gene DOID:12849 autistic disorder ISO RGD:1312495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 12067005 MED13 mediator complex subunit 13 gene DOID:1826 epilepsy ISO RGD:1312495 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12067005 MED13 mediator complex subunit 13 gene DOID:630 genetic disease ISO RGD:1312495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12067005 MED13 mediator complex subunit 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312495 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12067005 MED13 mediator complex subunit 13 gene DOID:9005864 Autosomal Dominant Intellectual Developmental Disorder 61 ISO RGD:1312495 D RGD:7240710 20200226 OMIM 12067005 MED13 mediator complex subunit 13 gene DOID:9005864 Autosomal Dominant Intellectual Developmental Disorder 61 ISO RGD:1312495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder 61 PMID:25741868|PMID:29740699 12067005 MED13 mediator complex subunit 13 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1304829 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary PMID:25287062|REF_RGD_ID:9681715 12067005 MED13 mediator complex subunit 13 gene DOID:9008582 Developmental Disease ISO RGD:1312495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12067040 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy ISO RGD:1318489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy PMID:25741868 12067040 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:0080001 bone disease ISO RGD:1318489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25004007 12067040 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318489 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12067040 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:0080445 developmental and epileptic encephalopathy 13 ISO RGD:1318489 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 PMID:20554659|PMID:28492532 12067040 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1318489 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 12067040 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1318489 D RGD:7240710 20180130 OMIM 12067040 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1318489 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy | ClinVar Annotator: match by term: Vitamin B6-dependent seizures PMID:16159904|PMID:16199547|PMID:16491085|PMID:17068770|PMID:17088338|PMID:17433748|PMID:17576681|PMID:17721876|PMID:18414213|PMID:18717709|PMID:19128417|PMID:19142996|PMID:19294602|PMID:20207735|PMID:20301659|PMID:20370816|PMID:20554659|PMID:20814824|PMID:21733724|PMID:22305855|PMID:22371912|PMID:22529283|PMID:22728861|PMID:22784480|PMID:23022070|PMID:23054014|PMID:23350806|PMID:23430810|PMID:23683770|PMID:23916709|PMID:23925287|PMID:23953072|PMID:24033266|PMID:24122892|PMID:24184718|PMID:24613284|PMID:24664088|PMID:24664145|PMID:24748525|PMID:24789515|PMID:24848745|PMID:24942048|PMID:25123644|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26026794|PMID:26101365|PMID:26224730|PMID:26232297|PMID:26467025|PMID:26891797|PMID:26995068|PMID:27186704|PMID:27324284|PMID:27438048|PMID:28087462|PMID:28131559|PMID:28492532|PMID:28962114|PMID:29045138|PMID:29056246|PMID:29286531|PMID:29655203|PMID:29720203|PMID:29852413|PMID:30043187|PMID:31302938|PMID:31564432|PMID:31737911|PMID:31965297|PMID:32685344|PMID:33822359|PMID:33868381|PMID:9536098 12067040 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:1059 intellectual disability ISO RGD:1318489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12067040 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:11832 visual epilepsy ISO RGD:1318489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure PMID:16159904|PMID:16491085|PMID:17068770|PMID:17088338|PMID:17576681|PMID:17721876|PMID:18717709|PMID:19128417|PMID:20301659|PMID:20370816|PMID:22371912|PMID:22784480|PMID:23022070|PMID:23054014|PMID:23350806|PMID:23430810|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26101365|PMID:26224730|PMID:26232297|PMID:26467025|PMID:28492532|PMID:29056246|PMID:30043187|PMID:9536098 12067040 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:12270 coloboma ISO RGD:1318489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25004007 12067040 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:14264 benign neonatal seizures ISO RGD:1318489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: neonatal seizures PMID:16199547|PMID:16491085|PMID:20554659|PMID:21733724|PMID:25741868|PMID:28492532 12067040 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:1826 epilepsy ISO RGD:1318489 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Intractable seizure | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:16159904|PMID:16491085|PMID:17068770|PMID:17088338|PMID:17721876|PMID:18717709|PMID:19128417|PMID:20301659|PMID:20370816|PMID:20554659|PMID:22371912|PMID:22784480|PMID:23022070|PMID:23054014|PMID:23430810|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26101365|PMID:26224730|PMID:26232297|PMID:26467025|PMID:28492532|PMID:29056246|PMID:30043187 12067040 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:1826 epilepsy ISO RGD:1318489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intractable seizure | ClinVar Annotator: match by term: Seizure PMID:16159904|PMID:16491085|PMID:17068770|PMID:17088338|PMID:17576681|PMID:17721876|PMID:18717709|PMID:19128417|PMID:20301659|PMID:20370816|PMID:20554659|PMID:22371912|PMID:22784480|PMID:23022070|PMID:23054014|PMID:23350806|PMID:23430810|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26101365|PMID:26224730|PMID:26232297|PMID:28492532|PMID:29056246|PMID:30043187|PMID:31564432|PMID:9536098 12067040 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:630 genetic disease ISO RGD:1318489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10971205|PMID:16199547|PMID:16491085|PMID:17433748|PMID:17576681|PMID:17721876|PMID:18717709|PMID:19128417|PMID:19142996|PMID:20207735|PMID:20301659|PMID:20554659|PMID:20814824|PMID:22371912|PMID:22529283|PMID:23022070|PMID:23350806|PMID:23430810|PMID:24122892|PMID:24664088|PMID:24748525|PMID:24848745|PMID:24942048|PMID:25741868|PMID:26026794|PMID:26101365|PMID:26232297|PMID:26467025|PMID:26995068|PMID:27324284|PMID:27438048|PMID:28087462|PMID:28492532|PMID:29286531|PMID:30043187|PMID:31564432|PMID:31737911|PMID:33868381|PMID:9536098 12067040 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1318489 D RGD:9068941 20220616 RGD mRNA:altered expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 12067040 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1318489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12067040 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:9000918 Disease Progression ISO RGD:1318489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12067040 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:9002704 Leukoencephalopathies ISO RGD:1318489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy PMID:28492532 12067040 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12067040 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:9006534 Nervous System Malformations ISO RGD:1318489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16491085|PMID:25741868|PMID:27186704|PMID:28492532 12067040 ALDH7A1 aldehyde dehydrogenase 7 family member A1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318489 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12067061 BSPRY B-box and SPRY domain containing gene DOID:630 genetic disease ISO RGD:1347567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12067071 NIPAL1 NIPA like domain containing 1 gene DOID:630 genetic disease ISO RGD:1602833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12067081 WNT9A Wnt family member 9A gene DOID:1540 parathyroid carcinoma ISO RGD:1312797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12067081 WNT9A Wnt family member 9A gene DOID:1612 breast cancer ISO RGD:1312797 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor, cell line:up-regulated in 1/9 primary breast tumors and 2/3 breast cancer cell lines (T-47D, MCF-7) PMID:11713592|REF_RGD_ID:2299944 12067081 WNT9A Wnt family member 9A gene DOID:1793 pancreatic cancer ISO RGD:1312797 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 12067081 WNT9A Wnt family member 9A gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1312797 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 12067081 WNT9A Wnt family member 9A gene DOID:630 genetic disease ISO RGD:1312797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12067081 WNT9A Wnt family member 9A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12067089 SDCBP syndecan binding protein gene DOID:630 genetic disease ISO RGD:1343667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12067089 SDCBP syndecan binding protein gene DOID:8398 osteoarthritis ISO RGD:1343667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12067119 SUMF1 sulfatase modifying factor 1 gene DOID:0050441 mucosulfatidosis ISO RGD:1553352 D RGD:9068941 20220825 MouseDO OMIM:272200 12067119 SUMF1 sulfatase modifying factor 1 gene DOID:1927 sphingolipidosis ISO RGD:1320552 D RGD:9068941 20200609 RGD Multiple Sulfatase Deficiency Disease PMID:12757705|REF_RGD_ID:1599192 12067133 MADCAM1 mucosal vascular addressin cell adhesion molecule 1 gene DOID:0060180 colitis ISO RGD:1344591 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16917232 12067133 MADCAM1 mucosal vascular addressin cell adhesion molecule 1 gene DOID:3044 food allergy ISO RGD:3029 D RGD:9068941 20200609 RGD PMID:14670821|REF_RGD_ID:2311549 12067133 MADCAM1 mucosal vascular addressin cell adhesion molecule 1 gene DOID:5119 ovarian cyst ISO RGD:1344591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12067133 MADCAM1 mucosal vascular addressin cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:1344591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12067133 MADCAM1 mucosal vascular addressin cell adhesion molecule 1 gene DOID:8778 Crohn's disease ISO RGD:3029 D RGD:9068941 20200609 RGD PMID:11703369|REF_RGD_ID:2311550 12067133 MADCAM1 mucosal vascular addressin cell adhesion molecule 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731299 D RGD:9068941 20200609 RGD PMID:17827401|PMID:9313747|REF_RGD_ID:2311544|REF_RGD_ID:2311545 12067142 KRT72 keratin 72 gene DOID:630 genetic disease ISO RGD:1605869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12067155 ZNF683 zinc finger protein 683 gene DOID:0080600 COVID-19 ISO RGD:1601926 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD8+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 12067155 ZNF683 zinc finger protein 683 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1601926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 12067155 ZNF683 zinc finger protein 683 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1601926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12067155 ZNF683 zinc finger protein 683 gene DOID:630 genetic disease ISO RGD:1601926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12067155 ZNF683 zinc finger protein 683 gene DOID:9001341 Chloracne ISO RGD:1601926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12067185 ZBTB21 zinc finger and BTB domain containing 21 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1321974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12067185 ZBTB21 zinc finger and BTB domain containing 21 gene DOID:0110266 cataract 9 multiple types ISO RGD:1321974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12067185 ZBTB21 zinc finger and BTB domain containing 21 gene DOID:630 genetic disease ISO RGD:1321974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12067185 ZBTB21 zinc finger and BTB domain containing 21 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1321974 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12067185 ZBTB21 zinc finger and BTB domain containing 21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12067185 ZBTB21 zinc finger and BTB domain containing 21 gene DOID:9263 homocystinuria ISO RGD:1321974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12067185 ZBTB21 zinc finger and BTB domain containing 21 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12067201 POGLUT1 protein O-glucosyltransferase 1 gene DOID:0060256 Dowling-Degos disease ISO RGD:1604326 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12067201 POGLUT1 protein O-glucosyltransferase 1 gene DOID:0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z ISO RGD:1604326 D RGD:7240710 20190315 OMIM 12067201 POGLUT1 protein O-glucosyltransferase 1 gene DOID:0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z ISO RGD:1604326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Z | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2z PMID:25741868|PMID:27807076|PMID:28492532|PMID:31897643 12067201 POGLUT1 protein O-glucosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1604326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12067201 POGLUT1 protein O-glucosyltransferase 1 gene DOID:9003079 Dowling-Degos Disease 4 ISO RGD:1604326 D RGD:7240710 20180130 OMIM 12067201 POGLUT1 protein O-glucosyltransferase 1 gene DOID:9003079 Dowling-Degos Disease 4 ISO RGD:1604326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dowling-Degos disease 4 PMID:20664185|PMID:21971768|PMID:24387993|PMID:25741868|PMID:27479915|PMID:28492532|PMID:30414910 12067221 OR2B7 olfactory receptor family 2 subfamily B member 7 gene DOID:630 genetic disease ISO RGD:733998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12067224 B3GNT9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1603192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12067224 B3GNT9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 gene DOID:0110255 cataract 5 multiple types ISO RGD:1603192 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 12067224 B3GNT9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 gene DOID:630 genetic disease ISO RGD:1603192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12067224 B3GNT9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 gene DOID:7148 rheumatoid arthritis ISO RGD:1603192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 12067230 F13B coagulation factor XIII B chain gene DOID:0110358 retinitis pigmentosa 12 ISO RGD:1323246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:10508521|PMID:17964524|PMID:22065545|PMID:23379534|PMID:25412400|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521 12067230 F13B coagulation factor XIII B chain gene DOID:1540 parathyroid carcinoma ISO RGD:1323246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12067230 F13B coagulation factor XIII B chain gene DOID:2211 factor XIII deficiency ISO RGD:1323246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary factor XIII deficiency disease PMID:22353194|PMID:25044882|PMID:25741868|PMID:28399723|PMID:28748566 12067230 F13B coagulation factor XIII B chain gene DOID:630 genetic disease ISO RGD:1323246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12067230 F13B coagulation factor XIII B chain gene DOID:869 cholesteatoma ISO RGD:1323246 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cholesteatoma 12067230 F13B coagulation factor XIII B chain gene DOID:9003871 Venous Thrombosis ISO RGD:1323246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Venous thrombosis, susceptibility to PMID:12456499|PMID:16241947|PMID:25741868 12067230 F13B coagulation factor XIII B chain gene DOID:9008281 Factor XIII, B Subunit, Deficiency Of ISO RGD:1323246 D RGD:7240710 20180130 OMIM 12067230 F13B coagulation factor XIII B chain gene DOID:9008281 Factor XIII, B Subunit, Deficiency Of ISO RGD:1323246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Factor XIII, b subunit, deficiency of PMID:11313256|PMID:12456499|PMID:14695539|PMID:16241947|PMID:20331752|PMID:22353194|PMID:2334637|PMID:25044882|PMID:25741868|PMID:28399723|PMID:28492532|PMID:28748566|PMID:31064749|PMID:34355501|PMID:8324218|PMID:8639893 12067230 F13B coagulation factor XIII B chain gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12067246 FMO4 flavin containing dimethylaniline monoxygenase 4 gene DOID:0060041 autism spectrum disorder ISO RGD:731768 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12067246 FMO4 flavin containing dimethylaniline monoxygenase 4 gene DOID:1540 parathyroid carcinoma ISO RGD:731768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12067246 FMO4 flavin containing dimethylaniline monoxygenase 4 gene DOID:630 genetic disease ISO RGD:731768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12067246 FMO4 flavin containing dimethylaniline monoxygenase 4 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:731768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12067246 FMO4 flavin containing dimethylaniline monoxygenase 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12067269 GOLGA7 golgin A7 gene DOID:630 genetic disease ISO RGD:1351077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12067285 UBE2V2 ubiquitin conjugating enzyme E2 V2 gene DOID:0111961 immunodeficiency 26 ISO RGD:1318163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency PMID:28492532 12067302 POLI DNA polymerase iota gene DOID:1059 intellectual disability ISO RGD:1313103 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12067302 POLI DNA polymerase iota gene DOID:630 genetic disease ISO RGD:1313103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12067333 NME7 NME/NM23 family member 7 gene DOID:0080600 COVID-19 ISO RGD:733959 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12067333 NME7 NME/NM23 family member 7 gene DOID:10908 hydrocephalus ISO RGD:733960 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 12067333 NME7 NME/NM23 family member 7 gene DOID:1540 parathyroid carcinoma ISO RGD:733959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12067333 NME7 NME/NM23 family member 7 gene DOID:303 substance-related disorder ISO RGD:733959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12067333 NME7 NME/NM23 family member 7 gene DOID:630 genetic disease ISO RGD:733959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12067333 NME7 NME/NM23 family member 7 gene DOID:758 situs inversus susceptibility ISO RGD:733960 D RGD:9068941 20221027 RGD PMID:20080492|REF_RGD_ID:155630601 12067333 NME7 NME/NM23 family member 7 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:733959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 12067333 NME7 NME/NM23 family member 7 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:733959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12067333 NME7 NME/NM23 family member 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12067355 LOC100687054 immunoglobulin lambda-like polypeptide 5 gene DOID:0080600 COVID-19 ISO RGD:3362168 D RGD:9068941 20201203 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12067355 LOC100687054 immunoglobulin lambda-like polypeptide 5 gene DOID:11198 DiGeorge syndrome ISO RGD:3362168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 12067355 LOC100687054 immunoglobulin lambda-like polypeptide 5 gene DOID:5419 schizophrenia ISO RGD:3362168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12067355 LOC100687054 immunoglobulin lambda-like polypeptide 5 gene DOID:630 genetic disease ISO RGD:3362168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12067363 ZNF580 zinc finger protein 580 gene DOID:630 genetic disease ISO RGD:1315767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12067372 CD320 CD320 molecule gene DOID:0060741 methylmalonic acidemia due to transcobalamin receptor defect ISO RGD:1352822 D RGD:7240710 20180130 OMIM 12067372 CD320 CD320 molecule gene DOID:0060741 methylmalonic acidemia due to transcobalamin receptor defect ISO RGD:1352822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia due to transcobalamin receptor defect PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12067372 CD320 CD320 molecule gene DOID:0080490 mucolipidosis type IV ISO RGD:1352822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 12067372 CD320 CD320 molecule gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1352822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 12067372 CD320 CD320 molecule gene DOID:12849 autistic disorder ISO RGD:1352822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12067372 CD320 CD320 molecule gene DOID:630 genetic disease ISO RGD:1352822 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12067388 STAB1 stabilin 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1321166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12067388 STAB1 stabilin 1 gene DOID:630 genetic disease ISO RGD:1321166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12067388 STAB1 stabilin 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1321166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12067552 ATP6V0A4 ATPase H+ transporting V0 subunit a4 gene DOID:0060346 Native American myopathy ISO RGD:1312856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA PMID:24033266|PMID:25741868|PMID:28492532 12067552 ATP6V0A4 ATPase H+ transporting V0 subunit a4 gene DOID:0080690 RASopathy ISO RGD:1312856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12067552 ATP6V0A4 ATPase H+ transporting V0 subunit a4 gene DOID:14219 renal tubular acidosis ISO RGD:1312856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:12414817|PMID:25741868|PMID:29311258|PMID:31959358 12067552 ATP6V0A4 ATPase H+ transporting V0 subunit a4 gene DOID:14219 renal tubular acidosis susceptibility ISO RGD:1312856 D RGD:9068941 20200609 RGD DNA:nonsense,deletion,splice-site PMID:10973252|REF_RGD_ID:1599383 12067552 ATP6V0A4 ATPase H+ transporting V0 subunit a4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12067552 ATP6V0A4 ATPase H+ transporting V0 subunit a4 gene DOID:630 genetic disease ISO RGD:1312856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12067552 ATP6V0A4 ATPase H+ transporting V0 subunit a4 gene DOID:9005808 Distal Renal Tubular Acidosis 3, Autosomal Recessive ISO RGD:1312856 D RGD:7240710 20180130 OMIM 12067552 ATP6V0A4 ATPase H+ transporting V0 subunit a4 gene DOID:9005808 Distal Renal Tubular Acidosis 3, Autosomal Recessive ISO RGD:1312856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Recessive | ClinVar Annotator: match by term: RTA, distal, autosomal recessive | ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing | ClinVar Annotator: match by term: Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss PMID:10973252|PMID:12414817|PMID:16611712|PMID:17576681|PMID:18632794|PMID:19364879|PMID:23754897|PMID:24033266|PMID:24252324|PMID:25741868|PMID:26208211|PMID:27247958|PMID:28188436|PMID:28492532|PMID:29024829|PMID:29202719|PMID:29311258|PMID:29398133|PMID:29627839|PMID:30230413|PMID:31589614|PMID:31738409|PMID:31959358|PMID:32613277|PMID:34159584|PMID:35738466|PMID:9536098 12067552 ATP6V0A4 ATPase H+ transporting V0 subunit a4 gene DOID:9007406 Distal Renal Tubular Acidosis ISO RGD:1312856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:12414817|PMID:25741868|PMID:29311258|PMID:31959358 12067598 CP ceruloplasmin gene DOID:0050579 glycogen storage disease XV ISO RGD:736782 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12067598 CP ceruloplasmin gene DOID:0050711 aceruloplasminemia ISO RGD:736782 D RGD:7240710 20180130 OMIM 12067598 CP ceruloplasmin gene DOID:0050711 aceruloplasminemia ISO RGD:736782 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deficiency of ferroxidase | ClinVar Annotator: match by term: Hypoceruloplasminemia PMID:10997552|PMID:11756598|PMID:11909923|PMID:12351628|PMID:1458725|PMID:15082597|PMID:15557511|PMID:15654567|PMID:15885371|PMID:16150804|PMID:16199547|PMID:16629161|PMID:16775387|PMID:16831606|PMID:17013908|PMID:17576681|PMID:17710675|PMID:18414213|PMID:19095659|PMID:2016084|PMID:20301666|PMID:20430895|PMID:20655381|PMID:22281056|PMID:24033266|PMID:25247888|PMID:25741868|PMID:25864092|PMID:26777753|PMID:27753142|PMID:28012953|PMID:28258281|PMID:28431603|PMID:28492532|PMID:29482220|PMID:30901137|PMID:32235485|PMID:3574673|PMID:5675426|PMID:5912351|PMID:7539672|PMID:7708681|PMID:7820540|PMID:8641692|PMID:8789443|PMID:9536098 12067598 CP ceruloplasmin gene DOID:0060041 autism spectrum disorder ISO RGD:736782 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12067598 CP ceruloplasmin gene DOID:0060541 Hermansky-Pudlak syndrome 3 ISO RGD:736782 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3 PMID:11590544|PMID:16199547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30990103|PMID:31898847 12067598 CP ceruloplasmin gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:736782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:16629161|PMID:28492532|PMID:32235485 12067598 CP ceruloplasmin gene DOID:10591 pre-eclampsia ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18679377 12067598 CP ceruloplasmin gene DOID:114 heart disease ISO RGD:2387 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19188839|REF_RGD_ID:2314687 12067598 CP ceruloplasmin gene DOID:12119 hemosiderosis susceptibility ISO RGD:736782 D RGD:9068941 20200609 RGD DNA:splice-site mutation PMID:7539672|REF_RGD_ID:1599626 12067598 CP ceruloplasmin gene DOID:12849 autistic disorder ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15363659 12067598 CP ceruloplasmin gene DOID:1307 dementia ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12572680 12067598 CP ceruloplasmin gene DOID:13580 cholestasis ISO RGD:736782 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:29523470|REF_RGD_ID:14401716 12067598 CP ceruloplasmin gene DOID:14330 Parkinson's disease ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19159062|PMID:25758665 12067598 CP ceruloplasmin gene DOID:1826 epilepsy ISO RGD:736782 D RGD:9068941 20200609 RGD PMID:7914452|REF_RGD_ID:1358523 12067598 CP ceruloplasmin gene DOID:1838 Menkes disease ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22243965 12067598 CP ceruloplasmin gene DOID:1909 melanoma ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23792645 12067598 CP ceruloplasmin gene DOID:2316 brain ischemia ISO RGD:2387 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cerebral cortex, hippocampus PMID:18273071|REF_RGD_ID:2314688 12067598 CP ceruloplasmin gene DOID:2351 iron metabolism disease ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16988052 12067598 CP ceruloplasmin gene DOID:2352 hemochromatosis ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17258727 12067598 CP ceruloplasmin gene DOID:3021 acute kidney failure ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12067598 CP ceruloplasmin gene DOID:326 ischemia ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15668637|PMID:18091701 12067598 CP ceruloplasmin gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:736782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:11590544|PMID:16199547|PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30990103|PMID:31064749|PMID:31898847 12067598 CP ceruloplasmin gene DOID:4724 brain edema ISO RGD:2387 D RGD:9068941 20200609 RGD PMID:16671455|REF_RGD_ID:1599627 12067598 CP ceruloplasmin gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:736782 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cholestanol storage disease PMID:25741868|PMID:28492532 12067598 CP ceruloplasmin gene DOID:5082 liver cirrhosis ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513|PMID:26396155 12067598 CP ceruloplasmin gene DOID:5113 nutritional deficiency disease ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12514262 12067598 CP ceruloplasmin gene DOID:5419 schizophrenia ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16842975 12067598 CP ceruloplasmin gene DOID:630 genetic disease ISO RGD:736782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485 12067598 CP ceruloplasmin gene DOID:684 hepatocellular carcinoma ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19229483 12067598 CP ceruloplasmin gene DOID:7148 rheumatoid arthritis ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26001728 12067598 CP ceruloplasmin gene DOID:7998 hyperthyroidism ISO RGD:2387 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18210749|REF_RGD_ID:2314689 12067598 CP ceruloplasmin gene DOID:8466 retinal degeneration ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12572680 12067598 CP ceruloplasmin gene DOID:8893 psoriasis ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12559600 12067598 CP ceruloplasmin gene DOID:893 Wilson disease ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22243965|PMID:23519153|PMID:7849148 12067598 CP ceruloplasmin gene DOID:893 Wilson disease ISO RGD:736782 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:18556333|REF_RGD_ID:14401715 12067598 CP ceruloplasmin gene DOID:893 Wilson disease treatment ISO RGD:2387 D RGD:9068941 20200609 RGD PMID:15511628|REF_RGD_ID:1554300 12067598 CP ceruloplasmin gene DOID:9000722 Animal Hepatitis ISO RGD:2387 D RGD:9068941 20200609 RGD protein:increased expression:lymph, plasma PMID:19526092|REF_RGD_ID:2314684 12067598 CP ceruloplasmin gene DOID:9001542 Albuminuria ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21752484 12067598 CP ceruloplasmin gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23792645 12067598 CP ceruloplasmin gene DOID:9002404 Systemic Hemosiderosis due to Aceruloplasminemia ISO RGD:736782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemosiderosis, systemic, due to aceruloplasminemia PMID:1458725|PMID:16199547|PMID:16629161|PMID:28492532|PMID:3574673|PMID:5675426|PMID:5912351|PMID:7539672|PMID:7708681|PMID:8641692 12067598 CP ceruloplasmin gene DOID:9002457 Experimental Arthritis ISO RGD:2387 D RGD:9068941 20200609 RGD PMID:19205849|REF_RGD_ID:2314686 12067598 CP ceruloplasmin gene DOID:9002457 Experimental Arthritis ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19330884 12067598 CP ceruloplasmin gene DOID:9002928 Colonic Neoplasms ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23792645 12067598 CP ceruloplasmin gene DOID:9002955 Nerve Degeneration ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18804145 12067598 CP ceruloplasmin gene DOID:9004547 Thyroid Neoplasms ISO RGD:2387 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid gland PMID:19298605|REF_RGD_ID:2314685 12067598 CP ceruloplasmin gene DOID:9004866 Ataxia ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12572680 12067598 CP ceruloplasmin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2387 D RGD:9068941 20200609 RGD Protein:increased expression:plasma PMID:16947119|REF_RGD_ID:1599198 12067598 CP ceruloplasmin gene DOID:9005725 Iron Overload ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20801540 12067598 CP ceruloplasmin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12067598 CP ceruloplasmin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12067598 CP ceruloplasmin gene DOID:9008510 Chronic Hepatitis ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 12067598 CP ceruloplasmin gene DOID:9008675 Dyskinesias ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12572680 12067598 CP ceruloplasmin gene DOID:9008746 Pasteurellaceae Infections ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16755360 12067598 CP ceruloplasmin gene DOID:9351 diabetes mellitus ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12572680 12067598 CP ceruloplasmin gene DOID:9352 type 2 diabetes mellitus ISO RGD:736782 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19834873|REF_RGD_ID:2314681 12067598 CP ceruloplasmin gene DOID:936 brain disease ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19005224 12067598 CP ceruloplasmin gene DOID:9744 type 1 diabetes mellitus ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20012460 12067598 CP ceruloplasmin gene DOID:9744 type 1 diabetes mellitus ISO RGD:736782 D RGD:9068941 20200609 RGD PMID:17603912|REF_RGD_ID:2314682 12067632 P2RX2 purinergic receptor P2X 2 gene DOID:0110567 autosomal dominant nonsyndromic deafness 41 ISO RGD:733979 D RGD:7240710 20180130 OMIM 12067632 P2RX2 purinergic receptor P2X 2 gene DOID:0110567 autosomal dominant nonsyndromic deafness 41 ISO RGD:733979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 41 PMID:12161595|PMID:23345450|PMID:24033266|PMID:24211385|PMID:25741868|PMID:25788561|PMID:28492532|PMID:31636190 12067632 P2RX2 purinergic receptor P2X 2 gene DOID:10003 sensorineural hearing loss ISO RGD:733979 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:19461658|PMID:28492532|PMID:30311386|PMID:34652575 12067632 P2RX2 purinergic receptor P2X 2 gene DOID:1826 epilepsy ISO RGD:733979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12941474 12067632 P2RX2 purinergic receptor P2X 2 gene DOID:630 genetic disease ISO RGD:733979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:26467025|PMID:28492532 12067632 P2RX2 purinergic receptor P2X 2 gene DOID:9002211 Hyperalgesia ISO RGD:733979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19383439 12067632 P2RX2 purinergic receptor P2X 2 gene DOID:9256 colorectal cancer ISO RGD:733979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 12067666 TBC1D8 TBC1 domain family member 8 gene DOID:630 genetic disease ISO RGD:1347118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12067691 GALT galactose-1-phosphate uridylyltransferase gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1315126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12067691 GALT galactose-1-phosphate uridylyltransferase gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1315126 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12067691 GALT galactose-1-phosphate uridylyltransferase gene DOID:0080942 anauxetic dysplasia ISO RGD:1315126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12067691 GALT galactose-1-phosphate uridylyltransferase gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1315126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12067691 GALT galactose-1-phosphate uridylyltransferase gene DOID:0111459 classic galactosemia ISO RGD:1315126 D RGD:7240710 20191106 OMIM 12067691 GALT galactose-1-phosphate uridylyltransferase gene DOID:0111459 classic galactosemia ISO RGD:1315126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GALACTOSEMIA I PMID:10424825|PMID:11152465|PMID:11261429|PMID:11286503|PMID:11479743|PMID:19224951|PMID:19581158|PMID:2011574|PMID:20301691|PMID:21228398|PMID:22963887|PMID:24718839|PMID:25087612|PMID:25592817|PMID:25614870|PMID:25741868|PMID:28492532|PMID:4759900|PMID:7550229|PMID:8198125|PMID:8892021|PMID:9012409|PMID:9222760|PMID:9450900 12067691 GALT galactose-1-phosphate uridylyltransferase gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1315126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12067691 GALT galactose-1-phosphate uridylyltransferase gene DOID:5426 primary ovarian insufficiency ISO RGD:1315126 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:17876724|PMID:22461411|PMID:25741868|PMID:28492532 12067691 GALT galactose-1-phosphate uridylyltransferase gene DOID:630 genetic disease ISO RGD:1315126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:20547145|PMID:22461411|PMID:22944367|PMID:25124065|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:30718057|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294 12067691 GALT galactose-1-phosphate uridylyltransferase gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1315126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12067691 GALT galactose-1-phosphate uridylyltransferase gene DOID:9562 primary ciliary dyskinesia ISO RGD:1315126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12067691 GALT galactose-1-phosphate uridylyltransferase gene DOID:9870 galactosemia ISO RGD:1315126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | ClinVar Annotator: match by term: Galactosemia PMID:10037750|PMID:10070616|PMID:10220154|PMID:10384398|PMID:10399107|PMID:10408771|PMID:10424825|PMID:10439960|PMID:10529216|PMID:10535394|PMID:10573007|PMID:10649501|PMID:10811638|PMID:10884393|PMID:10952646|PMID:10960497|PMID:11113841|PMID:11152465|PMID:11216901|PMID:11261429|PMID:11286503|PMID:11286505|PMID:11397328|PMID:11479743|PMID:11511927|PMID:11596650|PMID:11678552|PMID:11754113|PMID:11919338|PMID:12208137|PMID:12350230|PMID:12491926|PMID:12552079|PMID:12595586|PMID:12872845|PMID:1301925|PMID:1373122|PMID:1427861|PMID:14518827|PMID:14728988|PMID:15172000|PMID:15633893|PMID:15749517|PMID:15775761|PMID:15841485|PMID:15986423|PMID:1610789|PMID:16167124|PMID:16199547|PMID:16540753|PMID:16765930|PMID:16838075|PMID:17041746|PMID:17079880|PMID:17143577|PMID:17221873|PMID:17486650|PMID:17576681|PMID:1766867|PMID:17876724|PMID:17884932|PMID:17957157|PMID:18207281|PMID:18210213|PMID:18813948|PMID:18956253|PMID:1897530|PMID:19181333|PMID:19224951|PMID:19375122|PMID:19418241|PMID:19581158|PMID:19904210|PMID:20008339|PMID:20100763|PMID:2011574|PMID:20151200|PMID:20213376|PMID:20301691|PMID:20348403|PMID:20351709|PMID:20547145|PMID:20663501|PMID:20863731|PMID:21150919|PMID:21188552|PMID:21228398|PMID:21501963|PMID:21779791|PMID:2233247|PMID:22461411|PMID:22693313|PMID:22729817|PMID:22743281|PMID:22870861|PMID:22944367|PMID:22963887|PMID:23022339|PMID:23151865|PMID:23319291|PMID:23418865|PMID:23430559|PMID:23583749|PMID:23690308|PMID:23749220|PMID:23924834|PMID:24033266|PMID:24045215|PMID:24718839|PMID:24973740|PMID:25052314|PMID:25087612|PMID:25124065|PMID:25268296|PMID:25525159|PMID:25592817|PMID:25614870|PMID:25622686|PMID:25681079|PMID:25741868|PMID:25814382|PMID:25936995|PMID:26565537|PMID:27005423|PMID:27176039|PMID:27308838|PMID:27363831|PMID:27415407|PMID:27603904|PMID:27629047|PMID:27878435|PMID:28065439|PMID:28173647|PMID:28391442|PMID:28492532|PMID:28644047|PMID:28649529|PMID:29252199|PMID:29261178|PMID:29653003|PMID:29892033|PMID:30172461|PMID:30231941|PMID:30275481|PMID:30718057|PMID:30808388|PMID:30987402|PMID:30994193|PMID:31029175|PMID:31042289|PMID:31194682|PMID:31194895|PMID:31267113|PMID:31358168|PMID:31395954|PMID:31450232|PMID:31804959|PMID:31954591|PMID:32903656|PMID:33101984|PMID:33335841|PMID:33636947|PMID:34030713|PMID:4759900|PMID:7550229|PMID:7573066|PMID:7671959|PMID:7887416|PMID:7887417|PMID:8040766|PMID:8051928|PMID:8198125|PMID:8499924|PMID:8522334|PMID:8551426|PMID:8598637|PMID:8692963|PMID:8741038|PMID:8869397|PMID:8892021|PMID:8943248|PMID:8956044|PMID:9012409|PMID:9202622|PMID:9222760|PMID:9323558|PMID:9396569|PMID:9450900|PMID:9536098|PMID:9635294|PMID:9686364|PMID:9766850|PMID:9772178 12067709 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:731929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 12067709 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:731929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413734 12067709 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:10652 Alzheimer's disease ISO RGD:731929 D RGD:9068941 20200609 RGD PMID:14999081|REF_RGD_ID:1358600 12067709 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:10652 Alzheimer's disease ISO RGD:731929 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex, soluble fraction (human) PMID:15708437|REF_RGD_ID:1358602 12067709 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:3151 skin squamous cell carcinoma ISO RGD:731930 D RGD:9068941 20220825 MouseDO 12067709 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:3328 temporal lobe epilepsy ISO RGD:2641 D RGD:9068941 20200609 RGD protein:increased expression:forebrain, postsynaptic density PMID:11226670|REF_RGD_ID:5147998 12067709 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:37 skin disease ISO RGD:731930 D RGD:9068941 20220825 MouseDO 12067709 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:3770 pulmonary fibrosis ISO RGD:731929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30658076 12067709 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:5419 schizophrenia ISO RGD:731929 D RGD:9068941 20200609 RGD PMID:12670706|REF_RGD_ID:1358593 12067709 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:5426 primary ovarian insufficiency ISO RGD:731929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12067709 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:731929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12067709 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:9000217 Stomach Neoplasms ISO RGD:731929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12067709 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12067709 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:9003805 Catalepsy ISO RGD:731929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16407246 12067709 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:9004484 Sepsis ISO RGD:2641 D RGD:9068941 20200609 RGD protein:decreased phosphorylation, decreased activity:T cell (rat) PMID:9551931|REF_RGD_ID:2324866 12067709 FYN FYN proto-oncogene, Src family tyrosine kinase gene DOID:9007730 Burns ISO RGD:2641 D RGD:9068941 20200609 RGD protein:decreased phosphorylation, decreased activity:T cell (rat) PMID:12353920|REF_RGD_ID:2324864 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:0040084 Streptococcus pneumonia ISO RGD:731346 D RGD:9068941 20201015 RGD mRNA:increased expression:lung (mouse) PMID:20385761|REF_RGD_ID:39938865 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:0050120 hemophagocytic lymphohistiocytosis ISO RGD:731346 D RGD:9068941 20201015 RGD PMID:26914138|REF_RGD_ID:11529541 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:0050211 swine influenza ISO RGD:731346 D RGD:9068941 20201029 RGD PMID:24799604|REF_RGD_ID:39939082 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:0050211 swine influenza disease_progression ISO RGD:731346 D RGD:9068941 20201029 RGD PMID:23785507|REF_RGD_ID:39939079 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1346818 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35687267 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:10591 pre-eclampsia ISO RGD:731346 D RGD:9068941 20220825 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:11263 chlamydia ISO RGD:731346 D RGD:9068941 20201015 RGD mRNA:increased expression:lung (mouse) PMID:31249813|REF_RGD_ID:39938856 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:11263 chlamydia treatment ISO RGD:1346818 D RGD:9068941 20200807 RGD PMID:30832593|REF_RGD_ID:38455984 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:12205 dengue disease treatment ISO RGD:1346818 D RGD:9068941 20201029 RGD PMID:31821895|REF_RGD_ID:39939074 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:12385 shigellosis treatment ISO RGD:731346 D RGD:9068941 20201022 RGD PMID:30615126|REF_RGD_ID:39938959 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:12662 paracoccidioidomycosis ISO RGD:731346 D RGD:9068941 20201029 RGD mRNA, protein:decreased expression, decreased activity:lung,plasmacytoid dendritic cell (mouse) PMID:27992577|REF_RGD_ID:39939072 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:1289 neurodegenerative disease ISO RGD:1346818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16365156 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:14115 toxic shock syndrome severity ISO RGD:1346818 D RGD:9068941 20201029 RGD protein:increased activity, increased expression:plasma, heart (human) PMID:21765346|REF_RGD_ID:39939075 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:2122 pneumonic tularemia ISO RGD:731346 D RGD:9068941 20201015 RGD PMID:20385761|REF_RGD_ID:39938865 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:2272 vulvovaginal candidiasis ISO RGD:731346 D RGD:9068941 20201015 RGD PMID:23853597|REF_RGD_ID:39938863 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:289 endometriosis ISO RGD:1346818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:2957 pulmonary tuberculosis treatment ISO RGD:1346818 D RGD:9068941 20201029 RGD PMID:32369456|REF_RGD_ID:39939073 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:630 genetic disease ISO RGD:1346818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1346818 D RGD:9068941 20201029 RGD associated with pulmonary tuberculosis;protein:increased expression:blood (human) PMID:32369456|REF_RGD_ID:39939073 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:646 viral encephalitis ISO RGD:731346 D RGD:9068941 20201023 RGD PMID:30770561|REF_RGD_ID:39939045 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9000113 Pneumococcal Meningitis treatment ISO RGD:731346 D RGD:9068941 20201029 RGD PMID:24844751|REF_RGD_ID:39939118 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9000469 Viral Myocarditis ISO RGD:731346 D RGD:9068941 20201023 RGD PMID:31416389|REF_RGD_ID:39939047 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731346 D RGD:9068941 20201023 RGD PMID:28465467|REF_RGD_ID:39939037 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9001573 Experimental Liver Cirrhosis severity ISO RGD:731346 D RGD:9068941 20201023 RGD protein:increased expression:serum (mouse) PMID:28465467|REF_RGD_ID:39939037 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9002765 Systemic Juvenile Rheumatoid Arthritis ISO RGD:731346 D RGD:9068941 20201015 RGD PMID:26914138|REF_RGD_ID:11529541 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:731346 D RGD:9068941 20201029 RGD associated with Pneumococcal Meningitis PMID:24844751|REF_RGD_ID:39939118 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1346818 D RGD:9068941 20201029 RGD mRNA, protein:increased expression, increased activity:monocytes,myeloid dendritic cells,serum (human) PMID:25605587|REF_RGD_ID:39939081 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9004484 Sepsis treatment ISO RGD:731346 D RGD:9068941 20201015 RGD PMID:25114116|REF_RGD_ID:39938864 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:731346 D RGD:9068941 20201022 RGD PMID:25278421|REF_RGD_ID:39939031 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9004657 Weight Gain ISO RGD:1346818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27020609 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1346818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9005099 Salmonella Infections, Animal susceptibility ISO RGD:731346 D RGD:9068941 20201022 RGD PMID:24930766|REF_RGD_ID:39939032 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:731346 D RGD:9068941 20201023 RGD PMID:31231617|REF_RGD_ID:39939039 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9005372 Inflammation ISO RGD:1346818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16365156 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9005930 Endotoxemia ISO RGD:731346 D RGD:9068941 20201029 RGD PMID:24930766|PMID:28077574|REF_RGD_ID:39939032|REF_RGD_ID:39939117 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1346818 D RGD:9068941 20201022 RGD protein:increased expression:serum (human) PMID:28465467|REF_RGD_ID:39939037 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1346818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9123 eczema herpeticum severity ISO RGD:1346818 D RGD:9068941 20201022 RGD associated with atopic dermatitis; protein:increased activity:serum (human) PMID:26198597|REF_RGD_ID:11528429 12067734 IDO1 indoleamine 2,3-dioxygenase 1 gene DOID:9970 obesity ISO RGD:1346818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27020609 12067748 ITIH1 inter-alpha-trypsin inhibitor heavy chain 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1314518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12067748 ITIH1 inter-alpha-trypsin inhibitor heavy chain 1 gene DOID:3312 bipolar disorder ISO RGD:1314518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12067748 ITIH1 inter-alpha-trypsin inhibitor heavy chain 1 gene DOID:630 genetic disease ISO RGD:1314518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12067748 ITIH1 inter-alpha-trypsin inhibitor heavy chain 1 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1314518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 12067748 ITIH1 inter-alpha-trypsin inhibitor heavy chain 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1314518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17114358 12067778 AP3D1 adaptor related protein complex 3 subunit delta 1 gene DOID:0050633 ocular albinism ISO RGD:1318559 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ocular albinism PMID:25741868 12067778 AP3D1 adaptor related protein complex 3 subunit delta 1 gene DOID:0060539 Hermansky-Pudlak syndrome 1 ISO RGD:1553020 D RGD:9068941 20220825 MouseDO OMIM:203300 12067778 AP3D1 adaptor related protein complex 3 subunit delta 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1318559 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 12067778 AP3D1 adaptor related protein complex 3 subunit delta 1 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1318559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12067778 AP3D1 adaptor related protein complex 3 subunit delta 1 gene DOID:2213 hemorrhagic disease ISO RGD:1318559 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532 12067778 AP3D1 adaptor related protein complex 3 subunit delta 1 gene DOID:2223 platelet storage pool deficiency ISO RGD:1553020 D RGD:9068941 20220825 MouseDO OMIM:185050 12067778 AP3D1 adaptor related protein complex 3 subunit delta 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1318559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12067778 AP3D1 adaptor related protein complex 3 subunit delta 1 gene DOID:5339 cyclic hematopoiesis ISO RGD:1318559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12067778 AP3D1 adaptor related protein complex 3 subunit delta 1 gene DOID:630 genetic disease ISO RGD:1318559 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12067778 AP3D1 adaptor related protein complex 3 subunit delta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12067778 AP3D1 adaptor related protein complex 3 subunit delta 1 gene DOID:9006228 Hermansky-Pudlak Syndrome 10 ISO RGD:1318559 D RGD:7240710 20190315 OMIM 12067778 AP3D1 adaptor related protein complex 3 subunit delta 1 gene DOID:9006228 Hermansky-Pudlak Syndrome 10 ISO RGD:1318559 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 10 PMID:17576681|PMID:25741868|PMID:26744459|PMID:28492532|PMID:9536098 12067818 RRP1 ribosomal RNA processing 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1605116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 12067818 RRP1 ribosomal RNA processing 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1605116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12067818 RRP1 ribosomal RNA processing 1 gene DOID:12849 autistic disorder ISO RGD:1605116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12067818 RRP1 ribosomal RNA processing 1 gene DOID:3007 breast ductal carcinoma ISO RGD:1605116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12067818 RRP1 ribosomal RNA processing 1 gene DOID:630 genetic disease ISO RGD:1605116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12067818 RRP1 ribosomal RNA processing 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1605116 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12067818 RRP1 ribosomal RNA processing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12067818 RRP1 ribosomal RNA processing 1 gene DOID:9263 homocystinuria ISO RGD:1605116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12067818 RRP1 ribosomal RNA processing 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12067835 ROPN1L rhophilin associated tail protein 1 like gene DOID:630 genetic disease ISO RGD:1319640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12067850 UHMK1 U2AF homology motif kinase 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1344907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12067850 UHMK1 U2AF homology motif kinase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1344907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12067850 UHMK1 U2AF homology motif kinase 1 gene DOID:630 genetic disease ISO RGD:1344907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12067850 UHMK1 U2AF homology motif kinase 1 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1344907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 12067850 UHMK1 U2AF homology motif kinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12067864 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1603312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30021165|PMID:31616000 12067864 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:0080462 developmental and epileptic encephalopathy 7 ISO RGD:1603312 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 7 PMID:25741868 12067864 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:1059 intellectual disability ISO RGD:1603312 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23033978|PMID:25741868|PMID:28754924|PMID:30021165|PMID:31616000 12067864 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:1826 epilepsy ISO RGD:1603312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:31616000 12067864 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:5419 schizophrenia ISO RGD:1603312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:31616000 12067864 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:630 genetic disease ISO RGD:1603312 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23033978|PMID:25741868|PMID:28518168|PMID:28754924|PMID:30021165|PMID:31616000|PMID:32461654|PMID:33875846 12067864 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:31616000 12067864 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1603312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:31616000 12067864 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:9008432 INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES ISO RGD:1603312 D RGD:7240710 20201216 OMIM 12067864 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:9008432 INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES ISO RGD:1603312 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES | ClinVar Annotator: match by term: Intellectual developmental disorder with autistic features and language delay, with or without seizures PMID:23033978|PMID:25741868|PMID:28492532|PMID:28754924|PMID:30021165|PMID:31616000 12067907 COASY Coenzyme A synthase gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1354088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:21264299|PMID:24360804|PMID:25741868|PMID:27021474|PMID:28357284|PMID:28489334|PMID:28492532|PMID:28688840|PMID:33644862 12067907 COASY Coenzyme A synthase gene DOID:0110740 neurodegeneration with brain iron accumulation 6 ISO RGD:1354088 D RGD:7240710 20180130 OMIM 12067907 COASY Coenzyme A synthase gene DOID:0110740 neurodegeneration with brain iron accumulation 6 ISO RGD:1354088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 6 PMID:16199547|PMID:17576681|PMID:21264299|PMID:24360804|PMID:25741868|PMID:27021474|PMID:28106320|PMID:28357284|PMID:28489334|PMID:28492532|PMID:28688840|PMID:30089828|PMID:31130284|PMID:33644862|PMID:9536098 12067907 COASY Coenzyme A synthase gene DOID:0111394 mucopolysaccharidosis type IIIB ISO RGD:1354088 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B PMID:28492532 12067907 COASY Coenzyme A synthase gene DOID:0112327 pontocerebellar hypoplasia type 12 ISO RGD:1354088 D RGD:7240710 20190315 OMIM 12067907 COASY Coenzyme A synthase gene DOID:0112327 pontocerebellar hypoplasia type 12 ISO RGD:1354088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 12 PMID:25741868|PMID:28492532|PMID:30089828 12067907 COASY Coenzyme A synthase gene DOID:12801 mucopolysaccharidosis III susceptibility ISO RGD:1354088 D RGD:9068941 20200609 RGD DNA:nonsense mutation, splice-site mutation, missense mutations:multiple PMID:11153910|REF_RGD_ID:1642057 12067907 COASY Coenzyme A synthase gene DOID:630 genetic disease ISO RGD:1354088 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24360804|PMID:25741868|PMID:28106320|PMID:28492532|PMID:30089828 12067927 CDC6 cell division cycle 6 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1319341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 12067927 CDC6 cell division cycle 6 gene DOID:0080516 Meier-Gorlin syndrome 5 ISO RGD:1319341 D RGD:7240710 20190424 OMIM 12067927 CDC6 cell division cycle 6 gene DOID:0080516 Meier-Gorlin syndrome 5 ISO RGD:1319341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 5 PMID:11477602|PMID:18414213|PMID:21358632|PMID:25741868|PMID:28492532 12067927 CDC6 cell division cycle 6 gene DOID:0080600 COVID-19 ISO RGD:1319341 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12067927 CDC6 cell division cycle 6 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1319341 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 12067927 CDC6 cell division cycle 6 gene DOID:10907 microcephaly ISO RGD:1319341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12067927 CDC6 cell division cycle 6 gene DOID:11612 polycystic ovary syndrome ISO RGD:1319341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12067927 CDC6 cell division cycle 6 gene DOID:630 genetic disease ISO RGD:1319341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12067927 CDC6 cell division cycle 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1319341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:0050589 inflammatory bowel disease ISO RGD:736447 D RGD:9068941 20200609 RGD protein:increased expression PMID:21864296|REF_RGD_ID:5685671 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:0060478 Zika fever ISO RGD:10742 D RGD:9068941 20200702 RGD mRNA,protein:increased expression:brain PMID:30241539|REF_RGD_ID:32733625 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:0060496 respiratory allergy ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24211530 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:0070004 myeloid neoplasm ISO RGD:10742 D RGD:9068941 20200609 RGD PMID:21937694|REF_RGD_ID:11354915 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:0090145 dopamine beta-hydroxylase deficiency ISO RGD:736447 D RGD:9068941 20200609 RGD PMID:21209083|REF_RGD_ID:5685690 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:10320 asbestosis ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25324550 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:11832 visual epilepsy ISO RGD:2843 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:25219120|REF_RGD_ID:11354919 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:10742 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:21094208|REF_RGD_ID:5686293 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:2055 post-traumatic stress disorder ISO RGD:2843 D RGD:9068941 20200609 RGD PMID:25331812|REF_RGD_ID:13782181 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2843 D RGD:9068941 20200609 RGD PMID:25632565|REF_RGD_ID:11354959 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:3070 high grade glioma ISO RGD:736447 D RGD:9068941 20200609 RGD protein:increased expression PMID:21112319|REF_RGD_ID:5685704 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:3770 pulmonary fibrosis ISO RGD:10742 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lungs PMID:22227563|REF_RGD_ID:5685632 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:5199 ureteral obstruction treatment ISO RGD:2843 D RGD:9068941 20200609 RGD PMID:25707520|REF_RGD_ID:13782175 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:5844 myocardial infarction ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25450231 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:630 genetic disease ISO RGD:736447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:684 hepatocellular carcinoma ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284|PMID:29698666 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:7148 rheumatoid arthritis ISO RGD:736447 D RGD:9068941 20200609 RGD protein:increased expression:synovial joint PMID:11315915|REF_RGD_ID:5685639 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:8552 chronic myeloid leukemia ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23777986 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9000039 Spinal Cord Injuries ISO RGD:10742 D RGD:9068941 20200609 RGD mRNA: increased expression PMID:21933012|REF_RGD_ID:5685666 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2843 D RGD:9068941 20200609 RGD mRNA:increased expression PMID:21940431|REF_RGD_ID:5685664 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:2843 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord: PMID:24463125|REF_RGD_ID:11354961 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2843 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney PMID:19301230|REF_RGD_ID:2311449 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:2843 D RGD:9068941 20200609 RGD PMID:21927577|REF_RGD_ID:5685668 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9002955 Nerve Degeneration ISO RGD:2843 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:21436843|REF_RGD_ID:5685686 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9004009 Reperfusion Injury ISO RGD:2843 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, experimental (D003921): protein:increased expression:brain PMID:22075494|REF_RGD_ID:5685650 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2843 D RGD:9068941 20200709 RGD associated with Crush Injuries PMID:30465396|REF_RGD_ID:34901874 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9005666 Contrast-Induced Nephropathy treatment ISO RGD:2843 D RGD:9068941 20200609 RGD PMID:27781957|REF_RGD_ID:13782262 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9006532 Hematologic Neoplasms ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23777986 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:10742 D RGD:9068941 20230302 RGD PMID:36044268|REF_RGD_ID:156430337 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9007456 Female Infertility ISO RGD:736447 D RGD:9068941 20200609 RGD PMID:22143970|REF_RGD_ID:5685640 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:2843 D RGD:9068941 20200609 RGD protein:increased expression:neutrophil: PMID:26464680|REF_RGD_ID:11354914 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2843 D RGD:9068941 20200609 RGD PMID:24129401|PMID:25547710|REF_RGD_ID:11354962|REF_RGD_ID:13782178 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:2843 D RGD:9068941 20200709 RGD mRNA,protein:increased expression:chondrocyte PMID:31007149|REF_RGD_ID:34888237 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9008939 Breast Neoplasms ISO RGD:10742 D RGD:9068941 20200609 RGD protein:increased expression PMID:20957756|REF_RGD_ID:5686342 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9452 fatty liver disease ISO RGD:2843 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:liver: PMID:23647685|REF_RGD_ID:11354957 12067945 HSPA5 heat shock protein family A (Hsp70) member 5 gene DOID:9970 obesity ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26655953 12067958 SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:0080205 CAKUT ISO RGD:1348930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:26026792|PMID:30143558 12067958 SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:0080206 CAKUT1 ISO RGD:1348930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1, susceptibility to PMID:25741868|PMID:26026792|PMID:30143558 12067958 SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:0080600 COVID-19 ISO RGD:1348930 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12067958 SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:0111112 nephronophthisis 1 ISO RGD:1348930 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:26026792|PMID:30143558 12067958 SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:12712 nephronophthisis ISO RGD:1348930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:26026792|PMID:30143558 12067958 SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1557733 D RGD:9068941 20230323 MouseDO 12067958 SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1348930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12067958 SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:9003676 Brain Hypoxia-Ischemia exacerbates ISO RGD:1566260 D RGD:9068941 20230330 RGD PMID:31356825|REF_RGD_ID:242905191 12067958 SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:1348930 D RGD:7240710 20180130 OMIM 12067958 SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:1348930 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:23539728|PMID:25741868|PMID:28492532 12067986 PPP1R3A protein phosphatase 1 regulatory subunit 3A gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1343572 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868|PMID:7581368 12067986 PPP1R3A protein phosphatase 1 regulatory subunit 3A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12067986 PPP1R3A protein phosphatase 1 regulatory subunit 3A gene DOID:630 genetic disease ISO RGD:1343572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12067986 PPP1R3A protein phosphatase 1 regulatory subunit 3A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12067986 PPP1R3A protein phosphatase 1 regulatory subunit 3A gene DOID:9007692 Insulin Resistance ISO RGD:1343572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Insulin resistance, susceptibility to PMID:25741868|PMID:7581368 12067986 PPP1R3A protein phosphatase 1 regulatory subunit 3A gene DOID:9351 diabetes mellitus ISO RGD:1343572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:12118251|PMID:25741868|PMID:28492532 12067986 PPP1R3A protein phosphatase 1 regulatory subunit 3A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343572 D RGD:7240710 20190315 OMIM 12067986 PPP1R3A protein phosphatase 1 regulatory subunit 3A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Insulin resistance, severe, digenic | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:12118251|PMID:25741868|PMID:7581368 12067986 PPP1R3A protein phosphatase 1 regulatory subunit 3A gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1343572 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.D905Y (human) PMID:10868947|PMID:9653600|REF_RGD_ID:2311515|REF_RGD_ID:2311552 12067986 PPP1R3A protein phosphatase 1 regulatory subunit 3A gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:1343572 D RGD:9068941 20200609 RGD DNA:insertion/deletion PMID:12831406|REF_RGD_ID:2311596 12067986 PPP1R3A protein phosphatase 1 regulatory subunit 3A gene DOID:9993 hypoglycemia ISO RGD:1343572 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:insertion/deletion:3' UTR (human) PMID:9814479|REF_RGD_ID:1601469 12068001 OR2A9 olfactory receptor family 2 subfamily A member 9 gene DOID:630 genetic disease ISO RGD:1352035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068004 ADGRD1 adhesion G protein-coupled receptor D1 gene DOID:630 genetic disease ISO RGD:1344919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068039 SCNN1D sodium channel epithelial 1 subunit delta gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1346343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12068039 SCNN1D sodium channel epithelial 1 subunit delta gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1346343 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12068039 SCNN1D sodium channel epithelial 1 subunit delta gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1346343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12068039 SCNN1D sodium channel epithelial 1 subunit delta gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1346343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12068039 SCNN1D sodium channel epithelial 1 subunit delta gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1346343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12068039 SCNN1D sodium channel epithelial 1 subunit delta gene DOID:0110994 Joubert syndrome 25 ISO RGD:1346343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12068039 SCNN1D sodium channel epithelial 1 subunit delta gene DOID:0111934 immunodeficiency 38 ISO RGD:1346343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12068039 SCNN1D sodium channel epithelial 1 subunit delta gene DOID:0111935 immunodeficiency 16 ISO RGD:1346343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12068039 SCNN1D sodium channel epithelial 1 subunit delta gene DOID:630 genetic disease ISO RGD:1346343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068039 SCNN1D sodium channel epithelial 1 subunit delta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12068039 SCNN1D sodium channel epithelial 1 subunit delta gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1346343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12068039 SCNN1D sodium channel epithelial 1 subunit delta gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1346343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12068057 DENND1B DENN domain containing 1B gene DOID:0080600 COVID-19 ISO RGD:1318210 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12068057 DENND1B DENN domain containing 1B gene DOID:0110358 retinitis pigmentosa 12 ISO RGD:1318210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:10508521|PMID:17964524|PMID:22065545|PMID:23379534|PMID:25412400|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521 12068057 DENND1B DENN domain containing 1B gene DOID:12236 primary biliary cholangitis ISO RGD:1318210 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 12068057 DENND1B DENN domain containing 1B gene DOID:1540 parathyroid carcinoma ISO RGD:1318210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12068057 DENND1B DENN domain containing 1B gene DOID:630 genetic disease ISO RGD:1318210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068057 DENND1B DENN domain containing 1B gene DOID:8778 Crohn's disease ISO RGD:1318210 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 12068057 DENND1B DENN domain containing 1B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12068083 CNTNAP1 contactin associated protein 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:734159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12068083 CNTNAP1 contactin associated protein 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:734159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:25326635|PMID:25741868|PMID:28374019|PMID:32214227 12068083 CNTNAP1 contactin associated protein 1 gene DOID:630 genetic disease ISO RGD:734159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27668699|PMID:28492532|PMID:29882456|PMID:31395954 12068083 CNTNAP1 contactin associated protein 1 gene DOID:9000854 Lethal Congenital Contracture Syndrome 7 ISO RGD:734159 D RGD:7240710 20180130 OMIM 12068083 CNTNAP1 contactin associated protein 1 gene DOID:9000854 Lethal Congenital Contracture Syndrome 7 ISO RGD:734159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7 PMID:24319099|PMID:25741868|PMID:27668699|PMID:27818385|PMID:28254648|PMID:28374019|PMID:28492532|PMID:29882456|PMID:31395954|PMID:31397905 12068083 CNTNAP1 contactin associated protein 1 gene DOID:9003308 Congenital Hypomyelinating Neuropathy 3 ISO RGD:734159 D RGD:7240710 20190315 OMIM 12068083 CNTNAP1 contactin associated protein 1 gene DOID:9003308 Congenital Hypomyelinating Neuropathy 3 ISO RGD:734159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuropathy, congenital hypomyelinating, 3 PMID:24319099|PMID:25326635|PMID:25741868|PMID:27668699|PMID:27782105|PMID:27818385|PMID:28374019|PMID:28492532|PMID:29511323|PMID:29882456|PMID:31395954|PMID:31397905|PMID:32214227 12068114 SNF8 SNF8 subunit of ESCRT-II gene DOID:10487 Hirschsprung's disease ISO RGD:1604833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 12068114 SNF8 SNF8 subunit of ESCRT-II gene DOID:630 genetic disease ISO RGD:1604833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068126 AMPD1 adenosine monophosphate deaminase 1 gene DOID:0080000 muscular disease ISO RGD:735799 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11102975|PMID:18380285 12068126 AMPD1 adenosine monophosphate deaminase 1 gene DOID:0080690 RASopathy ISO RGD:735799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12068126 AMPD1 adenosine monophosphate deaminase 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:735799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 12068126 AMPD1 adenosine monophosphate deaminase 1 gene DOID:12849 autistic disorder ISO RGD:735799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:25155876|PMID:28492532 12068126 AMPD1 adenosine monophosphate deaminase 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:735799 D RGD:9068941 20230518 RGD DNA:SNP:exon 2:34C>T (human) PMID:11028479|REF_RGD_ID:329349360 12068126 AMPD1 adenosine monophosphate deaminase 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:735799 D RGD:9068941 20230518 RGD DNA:SNP:exon:34C>T (human) PMID:24508110|REF_RGD_ID:329412480 12068126 AMPD1 adenosine monophosphate deaminase 1 gene DOID:6000 congestive heart failure susceptibility ISO RGD:735799 D RGD:9068941 20230511 RGD DNA:SNP:exon 2:CT (human) PMID:15309698|REF_RGD_ID:329412474 12068126 AMPD1 adenosine monophosphate deaminase 1 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735799 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B PMID:25741868|PMID:28492532 12068126 AMPD1 adenosine monophosphate deaminase 1 gene DOID:9005532 Muscle Weakness ISO RGD:735799 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10996775 12068126 AMPD1 adenosine monophosphate deaminase 1 gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:735799 D RGD:9068941 20230518 RGD associated with congestive heart failure; DNA:SNP:exon 2:34C>T (human) PMID:16875916|REF_RGD_ID:329412475 12068126 AMPD1 adenosine monophosphate deaminase 1 gene DOID:9007712 Adenosine Monophosphate Deaminase Deficiency ISO RGD:735799 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10996775|PMID:11102975|PMID:1631143 12068126 AMPD1 adenosine monophosphate deaminase 1 gene DOID:9008558 MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY ISO RGD:735799 D RGD:7240710 20190717 OMIM 12068126 AMPD1 adenosine monophosphate deaminase 1 gene DOID:9008558 MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY ISO RGD:735799 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscle AMP deaminase deficiency PMID:10996775|PMID:11102975|PMID:12117480|PMID:15173240|PMID:15378456|PMID:16199547|PMID:1631143|PMID:17576681|PMID:1922051|PMID:19353846|PMID:21343608|PMID:25155876|PMID:25741868|PMID:28492532|PMID:29095874|PMID:8335021|PMID:9536098 12068146 NUDCD3 NudC domain containing 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12068146 NUDCD3 NudC domain containing 3 gene DOID:630 genetic disease ISO RGD:1344595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068146 NUDCD3 NudC domain containing 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1344595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12068147 IL20 interleukin 20 gene DOID:0050589 inflammatory bowel disease ISO RGD:1353403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 12068147 IL20 interleukin 20 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1353403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 12068147 IL20 interleukin 20 gene DOID:12849 autistic disorder ISO RGD:1353403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12068147 IL20 interleukin 20 gene DOID:1540 parathyroid carcinoma ISO RGD:1353403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12068147 IL20 interleukin 20 gene DOID:3021 acute kidney failure ISO RGD:1353403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18496552 12068147 IL20 interleukin 20 gene DOID:630 genetic disease ISO RGD:1353403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068147 IL20 interleukin 20 gene DOID:7148 rheumatoid arthritis ISO RGD:1353403 D RGD:9068941 20200609 RGD PMID:16947773|REF_RGD_ID:5147395 12068147 IL20 interleukin 20 gene DOID:783 end stage renal disease ISO RGD:1353403 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18639518|REF_RGD_ID:5147394 12068147 IL20 interleukin 20 gene DOID:783 end stage renal disease ISO RGD:1583578 D RGD:9068941 20200609 RGD protein:increased expression:multiple organs PMID:18639518|REF_RGD_ID:5147394 12068147 IL20 interleukin 20 gene DOID:8893 psoriasis ISO RGD:1353403 D RGD:9068941 20200609 RGD associated with Respiratory Tract Infections;DNA:SNP:enhancer:-1723C>G (rs1713239) (human) PMID:21109726|REF_RGD_ID:5147391 12068147 IL20 interleukin 20 gene DOID:9002457 Experimental Arthritis ISO RGD:1583578 D RGD:9068941 20200609 RGD PMID:20722035|REF_RGD_ID:5147393 12068147 IL20 interleukin 20 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1353403 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12068147 IL20 interleukin 20 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12068147 IL20 interleukin 20 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1353403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430480 12068159 MCUR1 mitochondrial calcium uniporter regulator 1 gene DOID:630 genetic disease ISO RGD:1349094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068171 TEX44 testis expressed 44 gene DOID:0060476 Perlman syndrome ISO RGD:1606945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12068171 TEX44 testis expressed 44 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1606945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12068176 TMEM97 transmembrane protein 97 gene DOID:630 genetic disease ISO RGD:1607046 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068187 CD82 CD82 molecule gene DOID:10283 prostate cancer disease_progression ISO RGD:1604068 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:12497033|REF_RGD_ID:2289404 12068187 CD82 CD82 molecule gene DOID:1059 intellectual disability ISO RGD:1604068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12068187 CD82 CD82 molecule gene DOID:10763 hypertension ISO RGD:69070 D RGD:9068941 20200609 RGD mRNA:increased expression:thymus PMID:10321446|REF_RGD_ID:2289422 12068187 CD82 CD82 molecule gene DOID:11054 urinary bladder cancer ISO RGD:1604068 D RGD:9068941 20200609 RGD PMID:17290345|REF_RGD_ID:2289391 12068187 CD82 CD82 molecule gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1604068 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:14706010|REF_RGD_ID:2289401 12068187 CD82 CD82 molecule gene DOID:2394 ovarian cancer disease_progression ISO RGD:1604068 D RGD:9068941 20200609 RGD protein:altered localization, decreased expression:ovary PMID:12079303|REF_RGD_ID:2289405 12068187 CD82 CD82 molecule gene DOID:2394 ovarian cancer disease_progression ISO RGD:1617636 D RGD:9068941 20200609 RGD protein:altered localization, decreased expression:ovary PMID:12079303|REF_RGD_ID:2289405 12068187 CD82 CD82 molecule gene DOID:2394 ovarian cancer disease_progression ISO RGD:69070 D RGD:9068941 20200609 RGD protein:altered localization, decreased expression:ovary PMID:12079303|REF_RGD_ID:2289405 12068187 CD82 CD82 molecule gene DOID:2671 transitional cell carcinoma ISO RGD:1604068 D RGD:9068941 20200609 RGD PMID:17393117|REF_RGD_ID:2289390 12068187 CD82 CD82 molecule gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:1604068 D RGD:9068941 20200609 RGD PMID:12684410|REF_RGD_ID:2289403 12068187 CD82 CD82 molecule gene DOID:3459 breast carcinoma ISO RGD:1604068 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:15958618|REF_RGD_ID:2289398 12068187 CD82 CD82 molecule gene DOID:3744 cervical squamous cell carcinoma ISO RGD:1604068 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:15642213|REF_RGD_ID:2289399 12068187 CD82 CD82 molecule gene DOID:630 genetic disease ISO RGD:1604068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068187 CD82 CD82 molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:1604068 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20075392 12068187 CD82 CD82 molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:1604068 D RGD:9068941 20200609 RGD associated with Carcinoma, Infiltrating Duct;mRNA:decreased expression:brain PMID:15592684|REF_RGD_ID:2289400 12068187 CD82 CD82 molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:1604068 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;DNA:loss of heterozygosity PMID:9254900|REF_RGD_ID:2289425 12068187 CD82 CD82 molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:1604068 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;mRNA:decreased expression:bone PMID:12806379|REF_RGD_ID:2289402 12068187 CD82 CD82 molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:69070 D RGD:9068941 20200609 RGD associated with Carcinoma, Hepatocellular;mRNA:decreased expression PMID:11275982|REF_RGD_ID:2289407 12068187 CD82 CD82 molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:69070 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;mRNA:decreased expression PMID:9831222|REF_RGD_ID:68869 12068187 CD82 CD82 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:1604068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20075392 12068187 CD82 CD82 molecule gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1604068 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20075392 12068187 CD82 CD82 molecule gene DOID:9007402 Gliosis ISO RGD:69070 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:15277499|REF_RGD_ID:2289406 12068203 TMEM8B transmembrane protein 8B gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1320668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12068203 TMEM8B transmembrane protein 8B gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1320668 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12068203 TMEM8B transmembrane protein 8B gene DOID:0080942 anauxetic dysplasia ISO RGD:1320668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12068203 TMEM8B transmembrane protein 8B gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1320668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12068203 TMEM8B transmembrane protein 8B gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1320668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12068203 TMEM8B transmembrane protein 8B gene DOID:630 genetic disease ISO RGD:1320668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068203 TMEM8B transmembrane protein 8B gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1320668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12068203 TMEM8B transmembrane protein 8B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12068203 TMEM8B transmembrane protein 8B gene DOID:9870 galactosemia ISO RGD:1320668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12068225 GHSR growth hormone secretagogue receptor gene DOID:0050848 obstructive sleep apnea ISO RGD:621397 D RGD:9068941 20200609 RGD protein:decreased expression:growth plate: PMID:26943473|REF_RGD_ID:11573409 12068225 GHSR growth hormone secretagogue receptor gene DOID:0060870 isolated growth hormone deficiency ISO RGD:621397 D RGD:9068941 20200609 RGD mRNA:increased expression:pituitary: PMID:9822798|REF_RGD_ID:12904721 12068225 GHSR growth hormone secretagogue receptor gene DOID:1062 Fanconi syndrome ISO RGD:730941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 12068225 GHSR growth hormone secretagogue receptor gene DOID:10763 hypertension ISO RGD:737310 D RGD:9068941 20200609 RGD associated with Obesity PMID:24760503|REF_RGD_ID:12910115 12068225 GHSR growth hormone secretagogue receptor gene DOID:1574 alcohol use disorder ISO RGD:730941 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23977009 12068225 GHSR growth hormone secretagogue receptor gene DOID:1824 status epilepticus ISO RGD:621397 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus: PMID:23129314|REF_RGD_ID:12907502 12068225 GHSR growth hormone secretagogue receptor gene DOID:224 transient cerebral ischemia ISO RGD:621397 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:brain: PMID:17560544|REF_RGD_ID:12907500 12068225 GHSR growth hormone secretagogue receptor gene DOID:3125 multiple endocrine neoplasia ISO RGD:621397 D RGD:9068941 20200609 RGD PMID:26512025|REF_RGD_ID:12904888 12068225 GHSR growth hormone secretagogue receptor gene DOID:3525 middle cerebral artery infarction ISO RGD:621397 D RGD:9068941 20200609 RGD PMID:19352052|REF_RGD_ID:9850083 12068225 GHSR growth hormone secretagogue receptor gene DOID:630 genetic disease ISO RGD:730941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14715843|PMID:16511605|PMID:17596538|PMID:17717076|PMID:19789204|PMID:21084395|PMID:25557026|PMID:25741868|PMID:28492532 12068225 GHSR growth hormone secretagogue receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:621397 D RGD:9068941 20200609 RGD PMID:25261791|REF_RGD_ID:12907564 12068225 GHSR growth hormone secretagogue receptor gene DOID:9002231 Fetal Growth Retardation disease_progression ISO RGD:621397 D RGD:9068941 20200609 RGD PMID:20637157|REF_RGD_ID:12904883 12068225 GHSR growth hormone secretagogue receptor gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:621397 D RGD:9068941 20200609 RGD PMID:21642627|REF_RGD_ID:12904963 12068225 GHSR growth hormone secretagogue receptor gene DOID:9003139 Cardiac Fibrosis ISO RGD:621397 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased activity:myocardia: PMID:16626506|REF_RGD_ID:12907503 12068225 GHSR growth hormone secretagogue receptor gene DOID:9004351 Digestive System Neoplasms ISO RGD:730941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18064392 12068225 GHSR growth hormone secretagogue receptor gene DOID:9004484 Sepsis disease_progression ISO RGD:621397 D RGD:9068941 20200609 RGD PMID:15155262|REF_RGD_ID:12905047 12068225 GHSR growth hormone secretagogue receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621397 D RGD:9068941 20200609 RGD mRNA:increased expression:Arcuate nucleus : PMID:23965296|REF_RGD_ID:12905048 12068225 GHSR growth hormone secretagogue receptor gene DOID:9006324 Isolated Growth Hormone Deficiency, Partial ISO RGD:730941 D RGD:7240710 20200122 OMIM 12068225 GHSR growth hormone secretagogue receptor gene DOID:9006324 Isolated Growth Hormone Deficiency, Partial ISO RGD:730941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency PMID:14715843|PMID:16511605|PMID:17596538|PMID:17717076|PMID:19789204|PMID:21084395|PMID:21646290|PMID:24651458|PMID:25557026|PMID:25741868|PMID:26094658|PMID:28492532|PMID:31726455 12068225 GHSR growth hormone secretagogue receptor gene DOID:9007102 Myocardial Ischemia ISO RGD:621397 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased activity:myocardia: PMID:16626506|REF_RGD_ID:12907503 12068225 GHSR growth hormone secretagogue receptor gene DOID:9007303 Idiopathic Short Stature, Autosomal ISO RGD:730941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature, idiopathic, autosomal 12068225 GHSR growth hormone secretagogue receptor gene DOID:9007661 Dwarfism ISO RGD:730941 D RGD:9068941 20200609 RGD PMID:7968381|REF_RGD_ID:12910126 12068225 GHSR growth hormone secretagogue receptor gene DOID:9007661 Dwarfism ISO RGD:730941 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:21084395|REF_RGD_ID:12904884 12068225 GHSR growth hormone secretagogue receptor gene DOID:9970 obesity ISO RGD:730941 D RGD:9068941 20200609 RGD DNA:point mutation:exon:F279L PMID:16511600|REF_RGD_ID:1625270 12068230 TMEM74 transmembrane protein 74 gene DOID:630 genetic disease ISO RGD:1605858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068283 TMEM69 transmembrane protein 69 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12068283 TMEM69 transmembrane protein 69 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12068283 TMEM69 transmembrane protein 69 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12068283 TMEM69 transmembrane protein 69 gene DOID:13938 amenorrhea ISO RGD:1605680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12068283 TMEM69 transmembrane protein 69 gene DOID:630 genetic disease ISO RGD:1605680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068297 FDX1 ferredoxin 1 gene DOID:1059 intellectual disability ISO RGD:1347130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12068297 FDX1 ferredoxin 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1347130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12068297 FDX1 ferredoxin 1 gene DOID:4989 pancreatitis ISO RGD:62036 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreatic acinar cell (rat) PMID:12709512|REF_RGD_ID:4145666 12068297 FDX1 ferredoxin 1 gene DOID:630 genetic disease ISO RGD:1347130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068297 FDX1 ferredoxin 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1347130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12068328 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1322980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12068328 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:0050885 IMAGe syndrome ISO RGD:1322980 D RGD:7240710 20210113 OMIM 12068328 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:0050885 IMAGe syndrome ISO RGD:1322980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IMAGe syndrome PMID:15769992|PMID:17576681|PMID:22634751|PMID:24065356|PMID:24098681|PMID:24313804|PMID:24624461|PMID:25057881|PMID:25262539|PMID:25614875|PMID:25741868|PMID:28492532|PMID:28546232|PMID:30374176|PMID:31630891|PMID:31976094|PMID:33076988|PMID:34098225|PMID:9536098 12068328 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:0080365 endometrial hyperplasia ISO RGD:1322980 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:22064387 12068328 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:0080600 COVID-19 ISO RGD:1322980 D RGD:9068941 20210115 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12068328 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:0080773 delta beta-thalassemia ISO RGD:1322980 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12068328 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1322980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12068328 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:10591 pre-eclampsia ISO RGD:1322981 D RGD:9068941 20220825 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 12068328 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:1324 lung cancer ISO RGD:727892 D RGD:9068941 20220707 RGD DNA:hypermethylation:promoter (rat) PMID:20512841|REF_RGD_ID:152998913 12068328 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:1324 lung cancer disease_progression ISO RGD:727892 D RGD:9068941 20220707 RGD protein:decreased expression:lung (rat) PMID:20512841|REF_RGD_ID:152998913 12068328 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1322980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12068328 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:1909 melanoma ISO RGD:1322980 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 12068328 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:2018 hyperinsulinism ISO RGD:1322980 D RGD:9068941 20210115 RGD DNA:loss of heterozygosity:pancreatic islet PMID:11723059|REF_RGD_ID:2311334 12068328 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:299 adenocarcinoma ISO RGD:1322980 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 12068328 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1322980 D RGD:7240710 20210113 OMIM 12068328 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1322980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome PMID:10323243|PMID:10424811|PMID:11106355|PMID:11414765|PMID:15150778|PMID:17576681|PMID:18395877|PMID:18414213|PMID:19386358|PMID:20503313|PMID:21910219|PMID:22634751|PMID:23197429|PMID:24033266|PMID:24065356|PMID:24098681|PMID:24313804|PMID:24624461|PMID:25427884|PMID:25741868|PMID:25861374|PMID:26061650|PMID:26077438|PMID:28492532|PMID:28546232|PMID:30374176|PMID:31630891|PMID:31804259|PMID:31976094|PMID:33076988|PMID:33443097|PMID:34065128|PMID:34098225|PMID:8841187|PMID:9341892|PMID:9536098 12068328 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1322980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome PMID:10323243|PMID:10424811|PMID:11106355|PMID:11414765|PMID:15150778|PMID:17576681|PMID:18395877|PMID:18414213|PMID:19386358|PMID:19843502|PMID:20503313|PMID:21910219|PMID:22634751|PMID:23197429|PMID:24033266|PMID:24065356|PMID:24098681|PMID:24313804|PMID:24624461|PMID:25427884|PMID:25741868|PMID:25861374|PMID:26061650|PMID:26077438|PMID:28492532|PMID:28546232|PMID:30374176|PMID:31630891|PMID:31804259|PMID:31976094|PMID:33076988|PMID:33443097|PMID:34065128|PMID:34098225|PMID:8841187|PMID:9341892|PMID:9536098 12068328 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:630 genetic disease ISO RGD:1322980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20503313|PMID:22634751|PMID:24098681|PMID:24313804|PMID:25741868|PMID:28492532|PMID:28546232|PMID:30374176|PMID:31630891|PMID:34098225|PMID:9536098 12068328 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:684 hepatocellular carcinoma severity ISO RGD:1322980 D RGD:9068941 20220707 RGD protein:decreased expression:liver (human) PMID:26606000|REF_RGD_ID:11354707 12068328 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:9000970 Focal Nodular Hyperplasia ISO RGD:727892 D RGD:9068941 20220708 RGD protein:increased expression:liver (rat) PMID:3965145|REF_RGD_ID:152998958 12068328 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:727892 D RGD:9068941 20220707 RGD protein:decreased expression:liver (rat) PMID:26606000|REF_RGD_ID:11354707 12068328 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:727892 D RGD:9068941 20220708 RGD protein:increased expression:liver (rat) PMID:3965145|REF_RGD_ID:152998958 12068328 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:727892 D RGD:9068941 20220707 RGD mRNA:increased expression:liver (rat) PMID:19533683|REF_RGD_ID:2315050 12068328 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1322980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12068328 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:9005172 Lung Neoplasms ISO RGD:1322980 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:20512841|PMID:21552421 12068328 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:9007070 Silver-Russell Syndrome 1 ISO RGD:1322980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 1 PMID:24065356|PMID:24624461|PMID:28492532|PMID:31976094|PMID:33076988 12068328 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:9007715 Endometrial Neoplasms ISO RGD:1322980 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:22064387 12068349 SH2D7 SH2 domain containing 7 gene DOID:2717 Bloom syndrome ISO RGD:2923266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12068349 SH2D7 SH2 domain containing 7 gene DOID:630 genetic disease ISO RGD:2923266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068349 SH2D7 SH2 domain containing 7 gene DOID:9256 colorectal cancer ISO RGD:2923266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12068365 ZFP91 ZFP91 zinc finger protein, atypical E3 ubiquitin ligase gene DOID:10534 stomach cancer ameliorates ISO RGD:1354161 D RGD:9068941 20220331 RGD PMID:31046116|REF_RGD_ID:151665744 12068365 ZFP91 ZFP91 zinc finger protein, atypical E3 ubiquitin ligase gene DOID:1059 intellectual disability ISO RGD:1354161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12068365 ZFP91 ZFP91 zinc finger protein, atypical E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1354161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068365 ZFP91 ZFP91 zinc finger protein, atypical E3 ubiquitin ligase gene DOID:9002395 Hypothermia ISO RGD:1354161 D RGD:9068941 20220707 CTD CTD Direct Evidence: therapeutic PMID:34942311 12068365 ZFP91 ZFP91 zinc finger protein, atypical E3 ubiquitin ligase gene DOID:9119 acute myeloid leukemia ISO RGD:628736 D RGD:9068941 20200609 RGD PMID:12738986|REF_RGD_ID:727221 12068382 KRT8 keratin 8 gene DOID:0050589 inflammatory bowel disease ISO RGD:735536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:15090596|PMID:25741868 12068382 KRT8 keratin 8 gene DOID:0060071 pre-malignant neoplasm ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12068382 KRT8 keratin 8 gene DOID:1883 hepatitis C ISO RGD:735536 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hepatitis C virus, susceptibility to PMID:11372009|PMID:15090596|PMID:15235035|PMID:25741868|PMID:28492532|PMID:33116287 12068382 KRT8 keratin 8 gene DOID:299 adenocarcinoma ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 12068382 KRT8 keratin 8 gene DOID:4450 renal cell carcinoma ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 12068382 KRT8 keratin 8 gene DOID:5082 liver cirrhosis ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20538000 12068382 KRT8 keratin 8 gene DOID:5082 liver cirrhosis ISO RGD:735536 D RGD:9068941 20200609 RGD PMID:11372009|REF_RGD_ID:1600062 12068382 KRT8 keratin 8 gene DOID:5082 liver cirrhosis ISO RGD:735536 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver (human) PMID:15368451|REF_RGD_ID:14401583 12068382 KRT8 keratin 8 gene DOID:630 genetic disease ISO RGD:735536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068382 KRT8 keratin 8 gene DOID:9000217 Stomach Neoplasms ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 12068382 KRT8 keratin 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 12068382 KRT8 keratin 8 gene DOID:9004017 Chronic Hepatitis C ISO RGD:735536 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver (human) PMID:15368451|REF_RGD_ID:14401583 12068382 KRT8 keratin 8 gene DOID:9004590 Acute Liver Failure ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20538000 12068382 KRT8 keratin 8 gene DOID:9005167 Cryptogenic Cirrhosis ISO RGD:735536 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cirrhosis, cryptogenic PMID:11372009|PMID:12724528|PMID:15235035|PMID:33116287|PMID:9011570 12068382 KRT8 keratin 8 gene DOID:9007188 Liver Neoplasms ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19409407|PMID:19796649 12068382 KRT8 keratin 8 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12068382 KRT8 keratin 8 gene DOID:9007543 Familial Cirrhosis ISO RGD:735536 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cirrhosis, familial | ClinVar Annotator: match by term: Cirrhosis, noncryptogenic, susceptibility to PMID:12724528|PMID:25741868|PMID:9011570 12068382 KRT8 keratin 8 gene DOID:9008691 Liver Injury susceptibility ISO RGD:735536 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.S73A (human gene in a mouse model) PMID:16818723|REF_RGD_ID:14398758 12068382 KRT8 keratin 8 gene DOID:9008939 Breast Neoplasms ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20061804 12068395 MIR133A microRNA mir-133a gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1352770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 12068395 MIR133A microRNA mir-133a gene DOID:1059 intellectual disability ISO RGD:1352770 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12068395 MIR133A microRNA mir-133a gene DOID:11714 gestational diabetes ISO RGD:2325571 D RGD:9068941 20200609 RGD PMID:26512955|REF_RGD_ID:11564338 12068395 MIR133A microRNA mir-133a gene DOID:3393 coronary artery disease ISO RGD:1352770 D RGD:9068941 20230202 RGD miRNA:decreased expression:blood plasma (human) PMID:25728840|REF_RGD_ID:11056497 12068395 MIR133A microRNA mir-133a gene DOID:684 hepatocellular carcinoma ISO RGD:1352770 D RGD:9068941 20220819 RGD human cells in mouse model PMID:30086463|REF_RGD_ID:153344517 12068395 MIR133A microRNA mir-133a gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352770 D RGD:9068941 20220819 RGD mRNA:decreased expression:liver (human) PMID:30086463|REF_RGD_ID:153344517 12068395 MIR133A microRNA mir-133a gene DOID:9000784 Fibrosis ISO RGD:1352770 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19893015 12068395 MIR133A microRNA mir-133a gene DOID:9003397 Atrioventricular Septal Defect 5 ISO RGD:1352770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect 5 PMID:22318994|PMID:28492532 12068422 CCNC cyclin C gene DOID:630 genetic disease ISO RGD:736281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068422 CCNC cyclin C gene DOID:9007730 Burns ISO RGD:70905 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:16271231|REF_RGD_ID:2315993 12068442 AKAP12 A-kinase anchoring protein 12 gene DOID:0050458 juvenile myelomonocytic leukemia disease_progression ISO RGD:737243 D RGD:9068941 20200609 RGD PMID:26891149|REF_RGD_ID:14348967 12068442 AKAP12 A-kinase anchoring protein 12 gene DOID:0080199 colorectal carcinoma treatment ISO RGD:737243 D RGD:9068941 20200609 RGD PMID:21918680|REF_RGD_ID:14348959 12068442 AKAP12 A-kinase anchoring protein 12 gene DOID:0080600 COVID-19 ISO RGD:737243 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12068442 AKAP12 A-kinase anchoring protein 12 gene DOID:11446 sciatic neuropathy ISO RGD:70988 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord: PMID:19937403|REF_RGD_ID:14348968 12068442 AKAP12 A-kinase anchoring protein 12 gene DOID:2316 brain ischemia ISO RGD:70988 D RGD:9068941 20200609 RGD PMID:21334414|REF_RGD_ID:14348963 12068442 AKAP12 A-kinase anchoring protein 12 gene DOID:3347 osteosarcoma ISO RGD:70988 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:osteoblast: PMID:19825367|REF_RGD_ID:5147850 12068442 AKAP12 A-kinase anchoring protein 12 gene DOID:5082 liver cirrhosis ISO RGD:70988 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver PMID:23925424|REF_RGD_ID:14348971 12068442 AKAP12 A-kinase anchoring protein 12 gene DOID:630 genetic disease ISO RGD:737243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068442 AKAP12 A-kinase anchoring protein 12 gene DOID:784 chronic kidney disease susceptibility ISO RGD:737243 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs756009(human) PMID:19724895|REF_RGD_ID:14349027 12068442 AKAP12 A-kinase anchoring protein 12 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:70988 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord PMID:20155814|REF_RGD_ID:14348972 12068442 AKAP12 A-kinase anchoring protein 12 gene DOID:9004610 Acute Lung Injury ISO RGD:70988 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung PMID:23912647|REF_RGD_ID:14348970 12068442 AKAP12 A-kinase anchoring protein 12 gene DOID:9008939 Breast Neoplasms ISO RGD:737243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 12068456 PLEKHA1 pleckstrin homology domain containing A1 gene DOID:0080600 COVID-19 ISO RGD:1345011 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12068456 PLEKHA1 pleckstrin homology domain containing A1 gene DOID:2340 craniosynostosis ISO RGD:1345011 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 12068456 PLEKHA1 pleckstrin homology domain containing A1 gene DOID:630 genetic disease ISO RGD:1345011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068456 PLEKHA1 pleckstrin homology domain containing A1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345011 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 12068480 GPX8 glutathione peroxidase 8 (putative) gene DOID:630 genetic disease ISO RGD:1603792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068480 GPX8 glutathione peroxidase 8 (putative) gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12068480 GPX8 glutathione peroxidase 8 (putative) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12068497 OSBPL6 oxysterol binding protein like 6 gene DOID:630 genetic disease ISO RGD:1318914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068541 BCL7C BAF chromatin remodeling complex subunit BCL7C gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1318207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12068541 BCL7C BAF chromatin remodeling complex subunit BCL7C gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1318207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 12068541 BCL7C BAF chromatin remodeling complex subunit BCL7C gene DOID:630 genetic disease ISO RGD:1318207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068541 BCL7C BAF chromatin remodeling complex subunit BCL7C gene DOID:9005834 Ependymomas ISO RGD:1318207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075792 12068551 DYM dymeclin gene DOID:0060247 Smith-McCort dysplasia ISO RGD:1350887 D RGD:8554872 20221122 ClinVar ClinVar Annotator: match by term: Smith-McCort dysplasia PMID:25741868|PMID:28492532 12068551 DYM dymeclin gene DOID:0081270 Smith-McCort dysplasia 1 ISO RGD:1350887 D RGD:7240710 20221123 OMIM 12068551 DYM dymeclin gene DOID:0081270 Smith-McCort dysplasia 1 ISO RGD:1350887 D RGD:8554872 20221122 ClinVar ClinVar Annotator: match by term: Smith-McCort dysplasia 1 PMID:12491225|PMID:16097008|PMID:18996921|PMID:19005420|PMID:25741868|PMID:28492532 12068551 DYM dymeclin gene DOID:0111167 Dyggve-Melchior-Clausen disease ISO RGD:1350887 D RGD:7240710 20180130 OMIM 12068551 DYM dymeclin gene DOID:0111167 Dyggve-Melchior-Clausen disease ISO RGD:1350887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndrome PMID:12161821|PMID:12491225|PMID:12554689|PMID:16097008|PMID:16199547|PMID:18996921|PMID:22090722|PMID:25741868|PMID:28492532|PMID:32886330 12068551 DYM dymeclin gene DOID:10283 prostate cancer ISO RGD:1350887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12068551 DYM dymeclin gene DOID:1059 intellectual disability ISO RGD:1350887 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12068551 DYM dymeclin gene DOID:2256 osteochondrodysplasia ISO RGD:1350887 D RGD:9068941 20200609 RGD PMID:12491225|REF_RGD_ID:1598787 12068551 DYM dymeclin gene DOID:5419 schizophrenia ISO RGD:1350887 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12068551 DYM dymeclin gene DOID:630 genetic disease ISO RGD:1350887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12491225|PMID:12554689|PMID:18996921|PMID:25741868|PMID:28492532 12068551 DYM dymeclin gene DOID:65 connective tissue disease ISO RGD:1350887 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 12068578 ARL17A ADP ribosylation factor like GTPase 17A gene DOID:630 genetic disease ISO RGD:1602487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068592 MOXD2 monooxygenase DBH like 2 gene DOID:10763 hypertension ISO RGD:1558176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3814904 12068611 OR9I1 olfactory receptor family 9 subfamily I member 1 gene DOID:1059 intellectual disability ISO RGD:1345505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12068611 OR9I1 olfactory receptor family 9 subfamily I member 1 gene DOID:630 genetic disease ISO RGD:1345505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068614 OR5I1 olfactory receptor family 5 subfamily I member 1 gene DOID:1059 intellectual disability ISO RGD:1351255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12068614 OR5I1 olfactory receptor family 5 subfamily I member 1 gene DOID:630 genetic disease ISO RGD:1351255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068617 KCTD15 potassium channel tetramerization domain containing 15 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1313572 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12068617 KCTD15 potassium channel tetramerization domain containing 15 gene DOID:630 genetic disease ISO RGD:1313572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068617 KCTD15 potassium channel tetramerization domain containing 15 gene DOID:9970 obesity ISO RGD:1313572 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19079261 12068640 KCNN1 potassium calcium-activated channel subfamily N member 1 gene DOID:630 genetic disease ISO RGD:731634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068640 KCNN1 potassium calcium-activated channel subfamily N member 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:731634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12068669 SAFB scaffold attachment factor B gene DOID:630 genetic disease ISO RGD:733074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068696 TMEM132D transmembrane protein 132D gene DOID:0060071 pre-malignant neoplasm ISO RGD:1606177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12068696 TMEM132D transmembrane protein 132D gene DOID:5409 lung small cell carcinoma ISO RGD:1606177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 12068696 TMEM132D transmembrane protein 132D gene DOID:630 genetic disease ISO RGD:1606177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068696 TMEM132D transmembrane protein 132D gene DOID:9007188 Liver Neoplasms ISO RGD:1606177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12068709 KCNH3 potassium voltage-gated channel subfamily H member 3 gene DOID:630 genetic disease ISO RGD:733984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068730 OR13A1 olfactory receptor family 13 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1603609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068733 TRUB1 TruB pseudouridine synthase family member 1 gene DOID:630 genetic disease ISO RGD:1318307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068745 ECT2 epithelial cell transforming 2 gene DOID:1062 Fanconi syndrome ISO RGD:1318344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 12068745 ECT2 epithelial cell transforming 2 gene DOID:630 genetic disease ISO RGD:1318344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068745 ECT2 epithelial cell transforming 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1318344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12068745 ECT2 epithelial cell transforming 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12068796 CDCP2 CUB domain containing protein 2 gene DOID:630 genetic disease ISO RGD:1603885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068805 MYBPH myosin binding protein H gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:734272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12068805 MYBPH myosin binding protein H gene DOID:10763 hypertension ISO RGD:620287 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.I?T, p.R?K (rat) PMID:23460292|REF_RGD_ID:12802369 12068805 MYBPH myosin binding protein H gene DOID:1540 parathyroid carcinoma ISO RGD:734272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12068805 MYBPH myosin binding protein H gene DOID:630 genetic disease ISO RGD:734272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068805 MYBPH myosin binding protein H gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:734272 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12068805 MYBPH myosin binding protein H gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12068837 DCST2 DC-STAMP domain containing 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12068837 DCST2 DC-STAMP domain containing 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12068837 DCST2 DC-STAMP domain containing 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12068837 DCST2 DC-STAMP domain containing 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12068837 DCST2 DC-STAMP domain containing 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1606730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12068837 DCST2 DC-STAMP domain containing 2 gene DOID:5812 MHC class II deficiency ISO RGD:1606730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12068837 DCST2 DC-STAMP domain containing 2 gene DOID:630 genetic disease ISO RGD:1606730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068837 DCST2 DC-STAMP domain containing 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12068859 TWSG1 twisted gastrulation BMP signaling modulator 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1322557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12068859 TWSG1 twisted gastrulation BMP signaling modulator 1 gene DOID:1059 intellectual disability ISO RGD:1322557 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12068859 TWSG1 twisted gastrulation BMP signaling modulator 1 gene DOID:4621 holoprosencephaly ISO RGD:1322557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15013800 12068859 TWSG1 twisted gastrulation BMP signaling modulator 1 gene DOID:543 dystonia ISO RGD:1322557 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 12068859 TWSG1 twisted gastrulation BMP signaling modulator 1 gene DOID:9000066 Jaw Abnormalities ISO RGD:1322557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15013800 12068868 TMEM235 transmembrane protein 235 gene DOID:630 genetic disease ISO RGD:4892151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068882 DNAAF6 dynein axonemal assembly factor 6 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1353450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 12068882 DNAAF6 dynein axonemal assembly factor 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12068882 DNAAF6 dynein axonemal assembly factor 6 gene DOID:0111850 primary ciliary dyskinesia 36 ISO RGD:1353450 D RGD:7240710 20190315 OMIM 12068882 DNAAF6 dynein axonemal assembly factor 6 gene DOID:0111850 primary ciliary dyskinesia 36 ISO RGD:1353450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 36, X-linked PMID:25741868|PMID:28041644|PMID:28492532|PMID:32170493 12068882 DNAAF6 dynein axonemal assembly factor 6 gene DOID:12849 autistic disorder ISO RGD:1353450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12068882 DNAAF6 dynein axonemal assembly factor 6 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1353450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:30067075 12068941 TMPRSS5 transmembrane serine protease 5 gene DOID:1059 intellectual disability ISO RGD:732836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12068941 TMPRSS5 transmembrane serine protease 5 gene DOID:630 genetic disease ISO RGD:732836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068941 TMPRSS5 transmembrane serine protease 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:732836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12068980 CDCA4 cell division cycle associated 4 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1348557 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12068980 CDCA4 cell division cycle associated 4 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1348557 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 12068980 CDCA4 cell division cycle associated 4 gene DOID:630 genetic disease ISO RGD:1348557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068999 MSANTD2 Myb/SANT DNA binding domain containing 2 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1606219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12068999 MSANTD2 Myb/SANT DNA binding domain containing 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12068999 MSANTD2 Myb/SANT DNA binding domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1606219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12068999 MSANTD2 Myb/SANT DNA binding domain containing 2 gene DOID:630 genetic disease ISO RGD:1606219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12068999 MSANTD2 Myb/SANT DNA binding domain containing 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12068999 MSANTD2 Myb/SANT DNA binding domain containing 2 gene DOID:9007661 Dwarfism ISO RGD:1606219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12069041 COMMD7 COMM domain containing 7 gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1317181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency PMID:28492532 12069041 COMMD7 COMM domain containing 7 gene DOID:630 genetic disease ISO RGD:1317181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:0050868 hepatocellular adenoma ISO RGD:734104 D RGD:9068941 20200609 RGD PMID:17183066|REF_RGD_ID:14696794 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:0070225 progressive familial intrahepatic cholestasis 5 ISO RGD:734103 D RGD:7240710 20190315 OMIM 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:0070225 progressive familial intrahepatic cholestasis 5 ISO RGD:734103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 5 PMID:11030617|PMID:17681172|PMID:21633855|PMID:24806754|PMID:25741868|PMID:26888176|PMID:28492532|PMID:31201556 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:0070226 progressive familial intrahepatic cholestasis 1 ISO RGD:734103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Byler disease PMID:11030617|PMID:21633855|PMID:26888176|PMID:28492532 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:734103 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:29142166|PMID:32062620 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:734104 D RGD:9068941 20200609 RGD PMID:29743187|REF_RGD_ID:14696797 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:0080208 non-alcoholic fatty liver disease disease_progression ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:23117815|REF_RGD_ID:15045604 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:734104 D RGD:9068941 20200609 RGD DNA:deletion:cds:exon 9 (mouse) PMID:23700488|REF_RGD_ID:14701033 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:30257410|REF_RGD_ID:15090799 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:0080546 non-alcoholic fatty liver severity ISO RGD:734104 D RGD:9068941 20200609 RGD cholic acid fed FXR-/- mouse PMID:12971955|REF_RGD_ID:15045573 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:734103 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:28774887|REF_RGD_ID:15045601 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:liver (rat) treatment with INT-767 PMID:30038487|REF_RGD_ID:15092090 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:10762 portal hypertension treatment ISO RGD:628831 D RGD:9068941 20200609 RGD associated with liver cirrhosis;mRNA:altered expression:liver (rat) PMID:19418582|REF_RGD_ID:15042868 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:10787 premature menopause ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:734103 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver (human) PMID:29968724|REF_RGD_ID:14928336 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:12336 male infertility ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30245210 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:628831 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:13580 cholestasis ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum (rat) PMID:30077711|REF_RGD_ID:15045597 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:13580 cholestasis ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461449|PMID:23178280 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:13580 cholestasis severity ISO RGD:734104 D RGD:9068941 20200609 RGD mutant FXR-/- mouse PMID:12949728|REF_RGD_ID:14701031 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:13580 cholestasis treatment ISO RGD:628831 D RGD:9068941 20200609 RGD PMID:30061734|PMID:30223280|REF_RGD_ID:15045612|REF_RGD_ID:15092071 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:13580 cholestasis treatment ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:liver (rat) PMID:29235094|REF_RGD_ID:15042872 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:13580 cholestasis treatment ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:27090119|REF_RGD_ID:15090804 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:13619 extrahepatic cholestasis ISO RGD:628831 D RGD:9068941 20200609 RGD PMID:14623915|REF_RGD_ID:1625205 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:13619 extrahepatic cholestasis ISO RGD:734103 D RGD:9068941 20200609 RGD human gene in mouse model PMID:22057115|REF_RGD_ID:14928333 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:13619 extrahepatic cholestasis disease_progression ISO RGD:628831 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:29138817|REF_RGD_ID:15042871 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:13619 extrahepatic cholestasis treatment ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:29360226|REF_RGD_ID:14995480 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:1852 intrahepatic cholestasis ISO RGD:628831 D RGD:9068941 20200609 RGD PMID:15644430|REF_RGD_ID:1625202 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:1936 atherosclerosis ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30996006 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:409 liver disease ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22130247 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:24255171|REF_RGD_ID:15090822 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:5082 liver cirrhosis severity ISO RGD:734104 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (mouse) PMID:19418582|REF_RGD_ID:15042868 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:5082 liver cirrhosis treatment ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:altered expression:liver, kidney (rat) PMID:30308196|REF_RGD_ID:15042865 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:630 genetic disease ISO RGD:734103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23811326|PMID:25496033 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:734103 D RGD:9068941 20200609 RGD intestinally expressed human gene in mouse model PMID:24954587|REF_RGD_ID:14928334 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:734103 D RGD:9068941 20200609 RGD mRNA:splice variant(s):liver (human) PMID:23213087|REF_RGD_ID:14928330 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:734104 D RGD:9068941 20200609 RGD PMID:23811326|REF_RGD_ID:14696796 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:734104 D RGD:9068941 20220825 MouseDO OMIM:114550 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:8778 Crohn's disease ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21829567 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30996006 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:628831 D RGD:9068941 20200609 RGD associated with portal hypertension;mRNA;decreased expression;liver (rat) PMID:24259407|REF_RGD_ID:15045598 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:628831 D RGD:9068941 20200609 RGD PMID:27993716|REF_RGD_ID:14701034 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:15980055|REF_RGD_ID:1625201 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9001586 Experimental Liver Neoplasms susceptibility ISO RGD:734104 D RGD:9068941 20200609 RGD PMID:17283114|REF_RGD_ID:14701032 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9002245 Intestinal Neoplasms ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23178280 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9005369 Hepatomegaly ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29142166 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9005372 Inflammation ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29142166 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:15047603|REF_RGD_ID:1625080 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9005749 Necrosis ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30996006 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9006205 Animal Disease Models ISO RGD:734103 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:29142166|PMID:32062620 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9007188 Liver Neoplasms ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23178280|PMID:24091600|PMID:24189133|PMID:29142166|PMID:30556042 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:28827769|REF_RGD_ID:15045609 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12875239 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:628831 D RGD:9068941 20200609 RGD protein:decreased expression:liver (rat) PMID:30068870|REF_RGD_ID:15042870 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:734104 D RGD:9068941 20200609 RGD PMID:22711662|REF_RGD_ID:14701036 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:628831 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:734104 D RGD:9068941 20200609 RGD PMID:20573685|PMID:29091898|REF_RGD_ID:14701035|REF_RGD_ID:15090820 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:734104 D RGD:9068941 20200609 RGD PMID:16557297|REF_RGD_ID:1625076 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9007755 Intestinal Reperfusion Injury disease_progression ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:23331901|REF_RGD_ID:15042883 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9008511 Extravasation of Diagnostic and Therapeutic Materials ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22135065 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9452 fatty liver disease ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29142166 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9452 fatty liver disease severity ISO RGD:734104 D RGD:9068941 20200609 RGD knockout eliminates treatment effectiveness PMID:23104131|REF_RGD_ID:14696795 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9452 fatty liver disease treatment ISO RGD:734104 D RGD:9068941 20200609 RGD PMID:12971955|REF_RGD_ID:15045573 12069057 NR1H4 nuclear receptor subfamily 1 group H member 4 gene DOID:9970 obesity disease_progression ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25612518|REF_RGD_ID:15045599 12069083 ZNF597 zinc finger protein 597 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1351139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12069083 ZNF597 zinc finger protein 597 gene DOID:1826 epilepsy ISO RGD:1351139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12069083 ZNF597 zinc finger protein 597 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1351139 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12069083 ZNF597 zinc finger protein 597 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1351139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12069083 ZNF597 zinc finger protein 597 gene DOID:630 genetic disease ISO RGD:1351139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069097 FANCD2OS FANCD2 opposite strand gene DOID:0060474 familial erythrocytosis 2 ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chuvash polycythemia PMID:10567493|PMID:10830910|PMID:17537157|PMID:19280651|PMID:19764026|PMID:20567917|PMID:28492532|PMID:8634692 12069097 FANCD2OS FANCD2 opposite strand gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1603367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 12069097 FANCD2OS FANCD2 opposite strand gene DOID:0111083 Fanconi anemia complementation group D2 ISO RGD:1603367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group D2 PMID:11239453|PMID:16199547|PMID:16280053|PMID:17436244|PMID:23613520|PMID:24728327|PMID:25741868|PMID:25927356|PMID:28492532|PMID:29625052|PMID:31586946|PMID:32546565|PMID:32581362 12069097 FANCD2OS FANCD2 opposite strand gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:25741868|PMID:25927356|PMID:28492532 12069097 FANCD2OS FANCD2 opposite strand gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 12069097 FANCD2OS FANCD2 opposite strand gene DOID:13636 Fanconi anemia ISO RGD:1603367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:11239453|PMID:16199547|PMID:16280053|PMID:17436244|PMID:17576681|PMID:23285130|PMID:24728327|PMID:25741868|PMID:25927356|PMID:28492532|PMID:29625052|PMID:30250602|PMID:30256826|PMID:31586946|PMID:32546565|PMID:9536098 12069097 FANCD2OS FANCD2 opposite strand gene DOID:2394 ovarian cancer ISO RGD:1603367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 12069097 FANCD2OS FANCD2 opposite strand gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603367 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 12069097 FANCD2OS FANCD2 opposite strand gene DOID:630 genetic disease ISO RGD:1603367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11239453|PMID:17436244|PMID:25741868|PMID:28492532 12069097 FANCD2OS FANCD2 opposite strand gene DOID:687 hepatoblastoma ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 12069097 FANCD2OS FANCD2 opposite strand gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12069097 FANCD2OS FANCD2 opposite strand gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 12069097 FANCD2OS FANCD2 opposite strand gene DOID:9008086 Developmental Disabilities ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25927356|PMID:28492532 12069097 FANCD2OS FANCD2 opposite strand gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:25516202|PMID:28492532 12069113 C5H16orf86 chromosome 5 C16orf86 homolog gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1604692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 12069113 C5H16orf86 chromosome 5 C16orf86 homolog gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12069113 C5H16orf86 chromosome 5 C16orf86 homolog gene DOID:630 genetic disease ISO RGD:1604692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069180 LOC106560070 vomeronasal type-1 receptor 90 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1352631 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12069180 LOC106560070 vomeronasal type-1 receptor 90 gene DOID:1540 parathyroid carcinoma ISO RGD:1352631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12069180 LOC106560070 vomeronasal type-1 receptor 90 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12069184 PARP2 poly(ADP-ribose) polymerase 2 gene DOID:630 genetic disease ISO RGD:1602134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069184 PARP2 poly(ADP-ribose) polymerase 2 gene DOID:811 lipodystrophy ISO RGD:1602134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21417348 12069184 PARP2 poly(ADP-ribose) polymerase 2 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1310568 D RGD:9068941 20200609 RGD PMID:25281201|REF_RGD_ID:13514043 12069204 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1344693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:25741868|PMID:28492532 12069204 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1344693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12069204 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12069204 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:0112050 non-syndromic X-linked intellectual disability 63 ISO RGD:1344693 D RGD:7240710 20180130 OMIM 12069204 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:0112050 non-syndromic X-linked intellectual disability 63 ISO RGD:1344693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 63 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 68 PMID:11889465|PMID:12525535|PMID:25741868 12069204 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:1059 intellectual disability ISO RGD:1344693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12069204 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:12849 autistic disorder ISO RGD:1344693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12069204 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:1596 depressive disorder ISO RGD:1344693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108178 12069204 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1344693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12069204 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:630 genetic disease ISO RGD:1344693 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 12069204 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1344693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 12069204 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12069204 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:9002457 Experimental Arthritis ISO RGD:1344693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988084 12069204 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:9005372 Inflammation ISO RGD:69401 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:14622223|REF_RGD_ID:2315920 12069204 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:9006205 Animal Disease Models ISO RGD:1344693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12069204 ACSL4 acyl-CoA synthetase long chain family member 4 gene DOID:9006976 Erythema ISO RGD:1344693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108178 12069233 GPR83 G protein-coupled receptor 83 gene DOID:1059 intellectual disability ISO RGD:1352259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12069233 GPR83 G protein-coupled receptor 83 gene DOID:630 genetic disease ISO RGD:1352259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069241 LGALS9 galectin 9 gene DOID:0060041 autism spectrum disorder ISO RGD:736794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25255310 12069241 LGALS9 galectin 9 gene DOID:10952 nephritis ISO RGD:736794 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11044214 12069241 LGALS9 galectin 9 gene DOID:630 genetic disease ISO RGD:736794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069241 LGALS9 galectin 9 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:3005 D RGD:9068941 20200609 RGD PMID:17706429|REF_RGD_ID:9685206 12069269 ZNF879 zinc finger protein 879 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:3029695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 12069269 ZNF879 zinc finger protein 879 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:3029695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12069269 ZNF879 zinc finger protein 879 gene DOID:0112103 Sotos syndrome 1 ISO RGD:3029695 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12069269 ZNF879 zinc finger protein 879 gene DOID:630 genetic disease ISO RGD:3029695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20081860 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:28438623|REF_RGD_ID:126779596 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050860 colorectal adenoma disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD protein:increased expression:large intestine PMID:30214616|REF_RGD_ID:126779593 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD DNA:SNP: rs3757441 (human) PMID:21926398|REF_RGD_ID:126779594 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:24122997|REF_RGD_ID:126779588 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1312683 D RGD:9068941 20210416 RGD associated with oral mucosa leukoplakia PMID:21697275|REF_RGD_ID:126781699 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1312683 D RGD:9068941 20210416 RGD DNA:SNPs, haplotypes: :multiple PMID:26807327|REF_RGD_ID:126779606 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050873 follicular lymphoma ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050908 myelodysplastic syndrome ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601954 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:1312683 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:22869879|REF_RGD_ID:10450880 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:1312683 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow, mononuclear cell (human) PMID:21125401|REF_RGD_ID:10450887 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0060058 lymphoma ISO RGD:1312683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoma PMID:23023262|PMID:24563539|PMID:26619011 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1312683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:23023262|PMID:24563539|PMID:26619011 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0070004 myeloid neoplasm ISO RGD:1312684 D RGD:9068941 20200609 RGD PMID:22233633|REF_RGD_ID:10450869 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0080188 chronic myelomonocytic leukemia severity ISO RGD:1312683 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:21339759|REF_RGD_ID:10450882 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0080199 colorectal carcinoma ISO RGD:1312683 D RGD:9068941 20210416 RGD protein:increased expression:large intestine PMID:30214616|REF_RGD_ID:126779593 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1595860 D RGD:9068941 20200609 RGD PMID:24351808|REF_RGD_ID:9588320 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0080600 COVID-19 ISO RGD:1312683 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24056718 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0090130 cortical dysplasia-focal epilepsy syndrome ISO RGD:1312683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome PMID:16571880|PMID:22872700|PMID:28492532 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:10283 prostate cancer severity ISO RGD:1312683 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland (human) PMID:17134822|REF_RGD_ID:10755355 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:10534 stomach cancer disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:16734726|REF_RGD_ID:126781698 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:10534 stomach cancer susceptibility ISO RGD:1312683 D RGD:9068941 20210416 RGD DNA:SNPs: :multiple PMID:22228224|REF_RGD_ID:126779605 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:10534 stomach cancer treatment ISO RGD:1312683 D RGD:9068941 20200609 RGD PMID:25595591|REF_RGD_ID:14928319 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:11054 urinary bladder cancer ISO RGD:1312683 D RGD:9068941 20210416 RGD mRNA:increased expression:urinary bladder PMID:21539681|REF_RGD_ID:126781700 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:127 leiomyoma ISO RGD:1595860 D RGD:9068941 20200609 RGD PMID:22504913|REF_RGD_ID:9588321 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:1312683 D RGD:9068941 20210416 RGD DNA:SNPs, haplotype: :rs6950683, rs3757441 (human) PMID:19901851|REF_RGD_ID:126781717 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:14731 Weaver syndrome ISO RGD:1312683 D RGD:7240710 20180130 OMIM 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:14731 Weaver syndrome ISO RGD:1312683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Weaver syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:22177091|PMID:22190405|PMID:23680131|PMID:24214728|PMID:24728327|PMID:25741868|PMID:26380986|PMID:26694085|PMID:28492532|PMID:29802153|PMID:30613354|PMID:31785789|PMID:32243864|PMID:4366187|PMID:9536098 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:1793 pancreatic cancer ISO RGD:1595860 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:22222375|REF_RGD_ID:9588324 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:219 colon cancer disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:19773751|REF_RGD_ID:126781702 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:2340 craniosynostosis ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26424790 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:289 endometriosis treatment ISO RGD:1595860 D RGD:9068941 20210416 RGD PMID:32651901|REF_RGD_ID:126781723 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3008 invasive ductal carcinoma ISO RGD:1312683 D RGD:9068941 20200609 RGD PMID:14532106|REF_RGD_ID:9588325 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3068 glioblastoma treatment ISO RGD:1312683 D RGD:9068941 20200609 RGD PMID:25595591|REF_RGD_ID:14928319 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3347 osteosarcoma ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14767549 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3347 osteosarcoma ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:26265454|REF_RGD_ID:11532507 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:21165554|PMID:25613619|REF_RGD_ID:126781697|REF_RGD_ID:126781701 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:21539681|PMID:23300840|REF_RGD_ID:126781700|REF_RGD_ID:126781715 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:24097870|REF_RGD_ID:126781716 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD DNA:SNP: :g.148505302C>T (rs887569) (human) PMID:24179546|REF_RGD_ID:126779604 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:4947 cholangiocarcinoma no_association ISO RGD:1312683 D RGD:9068941 20210416 RGD DNA:SNPs: :g.148525904C>G, (rs2302427), g.148519011C>T (rs6464926), g.148517456T>G (rs17171119) (human) PMID:24179546|REF_RGD_ID:126779604 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:4971 myelofibrosis ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601953 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:4971 myelofibrosis severity ISO RGD:1312683 D RGD:9068941 20200609 RGD DNA:mutations:exons, introns:multiple (human) PMID:21921040|REF_RGD_ID:10450870 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:4972 myelodysplastic/myeloproliferative neoplasm ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601953 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:4972 myelodysplastic/myeloproliferative neoplasm ISO RGD:1312684 D RGD:9068941 20200609 RGD PMID:24218139|REF_RGD_ID:11038772 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:5176 renal Wilms' tumor ISO RGD:1312683 D RGD:9068941 20221103 RGD human tumor in mouse model PMID:18467665|REF_RGD_ID:155631277 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1312684 D RGD:9068941 20200609 RGD PMID:22431509|REF_RGD_ID:10755340 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:6000 congestive heart failure disease_progression ISO RGD:1312683 D RGD:9068941 20221027 RGD DNA:mutations: : PMID:33779075|REF_RGD_ID:155630627 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:630 genetic disease ISO RGD:1312683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1312683 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:24211739|REF_RGD_ID:10755339 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:25226601|REF_RGD_ID:126779608 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1312683 D RGD:9068941 20210416 RGD mRNA:increased expression:liver PMID:26517514|REF_RGD_ID:11537550 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1312683 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560|PMID:34545456 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1312683 D RGD:9068941 20210416 RGD DNA:SNPs: :multiple PMID:24040354|REF_RGD_ID:126779595 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:707 B-cell lymphoma ISO RGD:1312684 D RGD:9068941 20220825 MouseDO 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:707 B-cell lymphoma severity ISO RGD:1312684 D RGD:9068941 20200609 RGD PMID:23982173|REF_RGD_ID:10755356 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:707 B-cell lymphoma treatment ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:29456795|REF_RGD_ID:126781726 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD mRNA, protein:increased expression:pleura PMID:22028491|REF_RGD_ID:126781718 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:8552 chronic myeloid leukemia ISO RGD:1312683 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow mononuclear cells (human) PMID:27070757|REF_RGD_ID:13782088 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1312683 D RGD:9068941 20200609 RGD associated with Down Syndrome;DNA:mutations:multiple (human) PMID:24056718|REF_RGD_ID:10450890 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:8923 skin melanoma ISO RGD:1312683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:23023262|PMID:24563539|PMID:26619011 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9000099 Experimental Colitis treatment ISO RGD:1312684 D RGD:9068941 20210416 RGD PMID:31160593|REF_RGD_ID:126779602 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312683 D RGD:9068941 20210416 RGD associated with lung non-small cell carcinoma PMID:24097870|REF_RGD_ID:126781716 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312683 D RGD:9068941 20210416 RGD associated with osteosarcoma PMID:26265454|REF_RGD_ID:11532507 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312683 D RGD:9068941 20210416 RGD associated with stomach cancer;protein:increased expression:stomach PMID:20132185|REF_RGD_ID:126779607 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17003774|PMID:17173048|PMID:21903722 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9002762 Ovarian Neoplasms ISO RGD:1312683 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35442568 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9004203 Chromosome Breakage ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29391238 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9004283 Transplant Rejection treatment ISO RGD:1595860 D RGD:9068941 20210416 RGD PMID:27784285|REF_RGD_ID:126781722 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9004402 Congenital Upper Extremity Deformities ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26424790 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1595860 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart PMID:23727574|REF_RGD_ID:9588322 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9004657 Weight Gain ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30971429 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1595860 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:23508046|REF_RGD_ID:9587808 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9006014 Peritoneal Adhesions ISO RGD:1595860 D RGD:9068941 20210416 RGD protein:increased expression:peritoneum PMID:27690696|REF_RGD_ID:126781724 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1312684 D RGD:9068941 20221103 RGD mRNA:altered expression:kidney (mouse) PMID:18467665|REF_RGD_ID:155631277 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29391238 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9007715 Endometrial Neoplasms ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21903722 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9008939 Breast Neoplasms ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21903722 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9119 acute myeloid leukemia ISO RGD:1312683 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow, mononuclear cell (human) PMID:21125401|REF_RGD_ID:10450887 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1312684 D RGD:9068941 20200609 RGD PMID:22677129|REF_RGD_ID:10450874 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1312683 D RGD:9068941 20200609 RGD DNA:mutations:cds:multiple (human) PMID:23099237|REF_RGD_ID:10450876 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9256 colorectal cancer ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:21539681|REF_RGD_ID:126781700 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9256 colorectal cancer disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:26871294|REF_RGD_ID:126779590 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9256 colorectal cancer disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD DNA:SNP: :rs3757441 (human) PMID:21926398|REF_RGD_ID:126779594 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9256 colorectal cancer no_association ISO RGD:1312683 D RGD:9068941 20210416 RGD DNA:SNPs: :rs2302427, rs41277434, rs6958683 (human) PMID:21926398|REF_RGD_ID:126779594 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD mRNA, protein:increased expression:ventral nasal meatus PMID:21300475|REF_RGD_ID:126779603 12069277 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1312684 D RGD:9068941 20220825 MouseDO OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 12069328 STARD7 StAR related lipid transfer domain containing 7 gene DOID:0111692 familial adult myoclonic epilepsy 2 ISO RGD:1316908 D RGD:7240710 20191127 OMIM 12069328 STARD7 StAR related lipid transfer domain containing 7 gene DOID:0111692 familial adult myoclonic epilepsy 2 ISO RGD:1316908 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 PMID:25741868 12069328 STARD7 StAR related lipid transfer domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1316908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12069328 STARD7 StAR related lipid transfer domain containing 7 gene DOID:5419 schizophrenia ISO RGD:1316908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12069328 STARD7 StAR related lipid transfer domain containing 7 gene DOID:630 genetic disease ISO RGD:1316908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069340 SCG5 secretogranin V gene DOID:0050902 medulloblastoma ISO RGD:731406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17334394 12069340 SCG5 secretogranin V gene DOID:0111684 hereditary mixed polyposis syndrome ISO RGD:731406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary mixed polyposis syndrome PMID:25741868 12069340 SCG5 secretogranin V gene DOID:0111685 hereditary mixed polyposis syndrome 1 ISO RGD:731406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1 PMID:22561515 12069340 SCG5 secretogranin V gene DOID:2717 Bloom syndrome ISO RGD:731406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12069340 SCG5 secretogranin V gene DOID:3946 pituitary-dependent Cushing's disease ISO RGD:731407 D RGD:9068941 20220825 MouseDO 12069340 SCG5 secretogranin V gene DOID:630 genetic disease ISO RGD:731406 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069340 SCG5 secretogranin V gene DOID:9008443 Colorectal Neoplasms ISO RGD:731406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18084292 12069340 SCG5 secretogranin V gene DOID:9256 colorectal cancer ISO RGD:731406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532|PMID:29804199 12069340 SCG5 secretogranin V gene DOID:9256 colorectal cancer ISO RGD:731406 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:26947005|PMID:28492532|PMID:29804199 12069352 PPM1K protein phosphatase, Mg2+/Mn2+ dependent 1K gene DOID:6000 congestive heart failure ISO RGD:1353112 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12069352 PPM1K protein phosphatase, Mg2+/Mn2+ dependent 1K gene DOID:630 genetic disease ISO RGD:1353112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12069352 PPM1K protein phosphatase, Mg2+/Mn2+ dependent 1K gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1353112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12069352 PPM1K protein phosphatase, Mg2+/Mn2+ dependent 1K gene DOID:9269 maple syrup urine disease ISO RGD:1353112 D RGD:7240710 20180130 OMIM 12069352 PPM1K protein phosphatase, Mg2+/Mn2+ dependent 1K gene DOID:9269 maple syrup urine disease ISO RGD:1353112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease, mild variant PMID:17576681|PMID:23086801|PMID:28492532|PMID:9536098 12069369 TTLL7 tubulin tyrosine ligase like 7 gene DOID:630 genetic disease ISO RGD:1605943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069397 GSX2 GS homeobox 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1602642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12069397 GSX2 GS homeobox 2 gene DOID:630 genetic disease ISO RGD:1602642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069397 GSX2 GS homeobox 2 gene DOID:9007719 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 ISO RGD:1602642 D RGD:7240710 20191127 OMIM 12069397 GSX2 GS homeobox 2 gene DOID:9007719 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 ISO RGD:1602642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 2 PMID:25741868|PMID:31412107 12069402 PLXNA4 plexin A4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12069402 PLXNA4 plexin A4 gene DOID:630 genetic disease ISO RGD:1602663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069444 SYT12 synaptotagmin 12 gene DOID:1059 intellectual disability ISO RGD:737534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12069444 SYT12 synaptotagmin 12 gene DOID:630 genetic disease ISO RGD:737534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069444 SYT12 synaptotagmin 12 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:737534 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12069444 SYT12 synaptotagmin 12 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:737534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12069456 PRODH2 proline dehydrogenase 2 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1315565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12069456 PRODH2 proline dehydrogenase 2 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1315565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12069456 PRODH2 proline dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:1315565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069456 PRODH2 proline dehydrogenase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12069473 OR51M1 olfactory receptor family 51 subfamily M member 1 gene DOID:630 genetic disease ISO RGD:1349567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069476 LIPK lipase family member K gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1320217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9286463|PMID:9467011 12069476 LIPK lipase family member K gene DOID:630 genetic disease ISO RGD:1320217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069494 NHLRC2 NHL repeat containing 2 gene DOID:630 genetic disease ISO RGD:1316494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12069494 NHLRC2 NHL repeat containing 2 gene DOID:9008399 FINCA Syndrome ISO RGD:1316494 D RGD:7240710 20190315 OMIM 12069494 NHLRC2 NHL repeat containing 2 gene DOID:9008399 FINCA Syndrome ISO RGD:1316494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrosis, neurodegeneration, and cerebral angiomatosis PMID:25741868|PMID:29423877|PMID:30138417|PMID:30239752|PMID:32435055|PMID:34165204 12069512 TACR2 tachykinin receptor 2 gene DOID:0060180 colitis ISO RGD:3812 D RGD:9068941 20200609 RGD PMID:12490601|PMID:18715640|REF_RGD_ID:2304260|REF_RGD_ID:5147478 12069512 TACR2 tachykinin receptor 2 gene DOID:1176 bronchial disease ISO RGD:736836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15774269 12069512 TACR2 tachykinin receptor 2 gene DOID:2841 asthma ISO RGD:736836 D RGD:9068941 20200609 RGD PMID:19880429|REF_RGD_ID:5147641 12069512 TACR2 tachykinin receptor 2 gene DOID:2841 asthma ISO RGD:736836 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.G231E (human) PMID:20175803|REF_RGD_ID:5147640 12069512 TACR2 tachykinin receptor 2 gene DOID:630 genetic disease ISO RGD:736836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069512 TACR2 tachykinin receptor 2 gene DOID:6432 pulmonary hypertension ISO RGD:3812 D RGD:9068941 20200609 RGD PMID:12662901|REF_RGD_ID:5147638 12069512 TACR2 tachykinin receptor 2 gene DOID:9005219 Abnormal Reflexes ISO RGD:3812 D RGD:9068941 20200609 RGD PMID:11342967|REF_RGD_ID:5147480 12069512 TACR2 tachykinin receptor 2 gene DOID:9007073 Cough susceptibility ISO RGD:736836 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.G231E (human) PMID:19583679|REF_RGD_ID:5147627 12069519 BLZF1 basic leucine zipper nuclear factor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1349052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12069519 BLZF1 basic leucine zipper nuclear factor 1 gene DOID:630 genetic disease ISO RGD:1349052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069519 BLZF1 basic leucine zipper nuclear factor 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1349052 D RGD:9068941 20200609 RGD PMID:26342799|REF_RGD_ID:14398326 12069519 BLZF1 basic leucine zipper nuclear factor 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1349052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12069519 BLZF1 basic leucine zipper nuclear factor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12069533 SYT11 synaptotagmin 11 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1343002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12069533 SYT11 synaptotagmin 11 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1343002 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532|PMID:30684668|PMID:31463572 12069533 SYT11 synaptotagmin 11 gene DOID:0111940 immunodeficiency 42 ISO RGD:1343002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12069533 SYT11 synaptotagmin 11 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1343002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12069533 SYT11 synaptotagmin 11 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1343002 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12069533 SYT11 synaptotagmin 11 gene DOID:1540 parathyroid carcinoma ISO RGD:1343002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12069533 SYT11 synaptotagmin 11 gene DOID:5812 MHC class II deficiency ISO RGD:1343002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12069533 SYT11 synaptotagmin 11 gene DOID:630 genetic disease ISO RGD:1343002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069533 SYT11 synaptotagmin 11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:732909 D RGD:9068941 20220624 RGD mRNA:increased expression:blood plasma (human) PMID:31874165|REF_RGD_ID:152995482 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:0050424 familial adenomatous polyposis ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17942926 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:0050700 cardiomyopathy ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24448315 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12556562 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:0060319 cardiac arrest ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:20363892|REF_RGD_ID:5509101 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:0081002 Cowden syndrome 6 ISO RGD:732909 D RGD:7240710 20180704 OMIM 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:0081002 Cowden syndrome 6 ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cowden syndrome 6 PMID:16199547|PMID:17576681|PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23246288|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23884910|PMID:23934607|PMID:24190505|PMID:24657128|PMID:24728327|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28459198|PMID:28492532|PMID:28655553|PMID:31792197|PMID:9536098 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25658812 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:732909 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:2081 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:cholangiocyte PMID:24498161|REF_RGD_ID:10040950 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:732909 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:10283 prostate cancer severity ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr, intron: (rs1130214, rs2494738) (human) PMID:21430300|REF_RGD_ID:5509093 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:10652 Alzheimer's disease ISO RGD:735336 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:cerebral cortex PMID:18023354|REF_RGD_ID:5509085 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:10763 hypertension ISO RGD:2081 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:kidney PMID:23323219|REF_RGD_ID:10041025 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:11054 urinary bladder cancer ISO RGD:732909 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732909 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:18190825|REF_RGD_ID:2291891 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:1245 vulva cancer severity ISO RGD:732909 D RGD:9068941 20200924 RGD associated with Papillomavirus Infections PMID:22685591|REF_RGD_ID:38676500 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:13482 Proteus syndrome ISO RGD:732909 D RGD:7240710 20180130 OMIM 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:13482 Proteus syndrome ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:14330 Parkinson's disease ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:introns:multiple (human) PMID:18395980|REF_RGD_ID:5509076 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:14330 Parkinson's disease ISO RGD:732909 D RGD:9068941 20200609 RGD protein:altered expression:brain PMID:19800394|REF_RGD_ID:5509074 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:14330 Parkinson's disease no_association ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:SNPs:introns:multiple (human) PMID:21741444|REF_RGD_ID:5509064 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:1520 colon carcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colon carcinoma PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:1612 breast cancer ISO RGD:732909 D RGD:7240710 20180711 OMIM 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:1612 breast cancer ISO RGD:732909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:1612 breast cancer ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732909 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:1793 pancreatic cancer severity ISO RGD:732909 D RGD:9068941 20200609 RGD protein:increased phosphorylation:pancreas (human) PMID:20697673|REF_RGD_ID:13450953 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:1793 pancreatic cancer treatment ISO RGD:732909 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:11595724|REF_RGD_ID:13452388 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:1826 epilepsy ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20064661 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:1875 impotence treatment ISO RGD:2081 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21235725|REF_RGD_ID:10053666 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:1909 melanoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24265152|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:1936 atherosclerosis severity ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:18054314|REF_RGD_ID:5509083 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:219 colon cancer ISO RGD:732909 D RGD:9068941 20220623 RGD human cells in mouse model PMID:31932471|REF_RGD_ID:152995462 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:219 colon cancer severity ISO RGD:732909 D RGD:9068941 20220623 RGD mRNA:increased expression:colon (human) PMID:31932471|REF_RGD_ID:152995462 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:219 colon cancer treatment ISO RGD:2081 D RGD:9068941 20210611 RGD PMID:33360052|REF_RGD_ID:127229954 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:2316 brain ischemia ISO RGD:2081 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:cerebral cortex PMID:21596097|REF_RGD_ID:5509066 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:2394 ovarian cancer ISO RGD:732909 D RGD:7240710 20190213 OMIM 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:2394 ovarian cancer susceptibility ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:point mutation:cds:p.E17K (human) PMID:17611497|REF_RGD_ID:1643334 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:732909 D RGD:9068941 20200609 RGD PMID:20638364|REF_RGD_ID:13504677 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:2671 transitional cell carcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:732909 D RGD:9068941 20200924 RGD DNA:SNP,haplotype:intron: IVS3+18 C/C (human) PMID:20141546|REF_RGD_ID:38676498 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:299 adenocarcinoma ISO RGD:732909 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:33129824 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:missense mutation:p.E17K (human) PMID:18392055|REF_RGD_ID:13209138 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:3068 glioblastoma ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:10802656|REF_RGD_ID:734543 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:3069 malignant astrocytoma disease_progression ISO RGD:732909 D RGD:9068941 20200609 RGD PMID:19240976|REF_RGD_ID:5509079 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:3312 bipolar disorder ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :multiple (human) PMID:20214684|REF_RGD_ID:5509071 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:735336 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:18273716|REF_RGD_ID:5509081 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:3347 osteosarcoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteosarcoma, somatic PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:3376 bone osteosarcoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:3393 coronary artery disease ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:18054314|REF_RGD_ID:5509083 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:3458 breast adenocarcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast adenocarcinoma, somatic PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:3565 meningioma ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334667 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:732909 D RGD:9068941 20220630 RGD protein:increased expression:esophagus (human) PMID:32642408|REF_RGD_ID:152995512 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:732909 D RGD:9068941 20220224 RGD human cells in mouse model PMID:32276600|REF_RGD_ID:151357000 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732909 D RGD:9068941 20210910 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:732909 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:kidney PMID:17681738|REF_RGD_ID:1643331 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:5041 esophageal cancer ISO RGD:732909 D RGD:9068941 20220630 RGD protein:increased expression:esophagus (human) PMID:27188433|REF_RGD_ID:152995510 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:5199 ureteral obstruction ISO RGD:2081 D RGD:9068941 20200609 RGD PMID:22085202|REF_RGD_ID:10041001 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:5409 lung small cell carcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Small cell lung cancer PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:5411 lung oat cell carcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung oat cell carcinoma PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:5419 schizophrenia ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14745448|PMID:15982448|PMID:17915974|PMID:21187413 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:5419 schizophrenia ISO RGD:732909 D RGD:9068941 20200609 RGD PMID:14745448|REF_RGD_ID:1358369 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:5419 schizophrenia ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron: (rs2494734) (human) PMID:20921115|REF_RGD_ID:5509070 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:5419 schizophrenia ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :multiple PMID:20214684|REF_RGD_ID:5509071 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:5419 schizophrenia ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:multiple PMID:17825267|REF_RGD_ID:5509088 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:5419 schizophrenia ISO RGD:732909 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:hippocampus, dentate gyrus, neuron PMID:21049487|REF_RGD_ID:5509068 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:5419 schizophrenia ISO RGD:735336 D RGD:9068941 20220825 MouseDO OMIM:181500 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:5844 myocardial infarction ISO RGD:2081 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:heart PMID:20352476|REF_RGD_ID:10041035 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:5844 myocardial infarction ISO RGD:732909 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:platelet PMID:20467748|REF_RGD_ID:5509094 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:607 paraplegia ISO RGD:2081 D RGD:9068941 20200609 RGD mRNA:decreased expression:soleus PMID:18236467|REF_RGD_ID:5509082 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:630 genetic disease ISO RGD:732909 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:670 amphetamine abuse ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15982448 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2081 D RGD:9068941 20220520 RGD PMID:25999787|PMID:31801250|REF_RGD_ID:151893509|REF_RGD_ID:152177911 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:7575 pancreatic intraductal papillary-mucinous neoplasm ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E17K (human) PMID:24132918|REF_RGD_ID:13462042 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:767 muscular atrophy ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18467435 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:732909 D RGD:9068941 20200609 RGD protein:increased phosphorylation:blood PMID:17900686|REF_RGD_ID:13674160 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:8646 substance-induced psychosis ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21041608 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:8719 in situ carcinoma ISO RGD:732909 D RGD:9068941 20200609 RGD ductal carcinoma in situ;protein:increased phosphorylation:breast PMID:16341149|REF_RGD_ID:1643333 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:8805 intermediate coronary syndrome ISO RGD:732909 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:platelet PMID:20467748|REF_RGD_ID:5509094 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:8923 skin melanoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:8947 diabetic retinopathy ISO RGD:2081 D RGD:9068941 20210219 RGD mRNA, protein:increased expression:retina PMID:31759996|REF_RGD_ID:41410819 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2081 D RGD:9068941 20200609 RGD PMID:20678995|REF_RGD_ID:10040962 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9000099 Experimental Colitis treatment ISO RGD:2081 D RGD:9068941 20220623 RGD PMID:29572553|REF_RGD_ID:152995414 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9000641 Pain ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17084039 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9000784 Fibrosis ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24448315 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:736689 D RGD:9068941 20200609 RGD PMID:19124556|REF_RGD_ID:5509080 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9000998 Brain Injuries ISO RGD:2081 D RGD:9068941 20200609 RGD protein:increased phosphorylation:brain, neuron PMID:16234845|REF_RGD_ID:5509090 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9000998 Brain Injuries ISO RGD:732909 D RGD:9068941 20200609 RGD protein:increased phosphorylation:brain, neuron PMID:16234845|REF_RGD_ID:5509090 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9001049 Staphylococcal Pneumonia treatment ISO RGD:735336 D RGD:9068941 20200924 RGD PMID:23613163|REF_RGD_ID:38676477 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9002221 Hyperplasia ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20530298 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:732909 D RGD:9068941 20200609 RGD clear cell sarcoma of kidney;protein:increased serine phosphorylation:kidney PMID:17646270|REF_RGD_ID:1643332 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Prostate neoplasm PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2081 D RGD:9068941 20200609 RGD PMID:22391142|REF_RGD_ID:10041007 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9002514 Neointima ISO RGD:735336 D RGD:9068941 20230427 RGD PMID:25751394|REF_RGD_ID:329328927 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9003936 Cardiomegaly ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24448315 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9003936 Cardiomegaly ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:12237475|REF_RGD_ID:734544 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:21351045|REF_RGD_ID:5509067 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9004397 calcification of aortic valve ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23308213 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9004464 Skin Neoplasms ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21351258 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9004610 Acute Lung Injury severity ISO RGD:735336 D RGD:9068941 20200924 RGD PMID:23904165|REF_RGD_ID:38676478 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12511591|PMID:21911043|PMID:22619562 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:17210696|REF_RGD_ID:2315600 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9005369 Hepatomegaly ISO RGD:732909 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9005372 Inflammation ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24448315|PMID:26297436 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9005372 Inflammation ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:19622728|REF_RGD_ID:5509095 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9005372 Inflammation severity ISO RGD:735336 D RGD:9068941 20200924 RGD associated with Staphylococcal Infections PMID:23904165|REF_RGD_ID:38676478 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2081 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:cornea PMID:21330660|REF_RGD_ID:5131482 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2081 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:cortex of kidney PMID:18599524|REF_RGD_ID:8657153 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9005930 Endotoxemia ISO RGD:2081 D RGD:9068941 20200924 RGD PMID:22824368|REF_RGD_ID:38676479 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9006086 Intervertebral Disc Displacement disease_progression ISO RGD:732909 D RGD:9068941 20200609 RGD PMID:21590431|REF_RGD_ID:5509092 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:2081 D RGD:9068941 20200609 RGD PMID:21357504|REF_RGD_ID:10041003 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9006205 Animal Disease Models ISO RGD:732909 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:25658812|PMID:32045588 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9006361 Macrocephaly Mesodermal Hamartoma Spectrum ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Elattoproteus syndrome PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:732909 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:735336 D RGD:9068941 20230302 RGD PMID:36044268|REF_RGD_ID:156430337 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9007096 Stroke disease_progression ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:19440551|REF_RGD_ID:5509077 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9007166 Meningeal Neoplasms ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meningeal Neoplasms PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9007702 Carcinogenesis ISO RGD:732909 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2081 D RGD:9068941 20200609 RGD protein:increased phosphorylation:heart left ventricle PMID:20217242|REF_RGD_ID:5509104 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:point mutation:cds:p.E17K (human) PMID:17611497|REF_RGD_ID:1643334 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:732909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9256 colorectal cancer ISO RGD:732909 D RGD:7240710 20200226 OMIM 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9256 colorectal cancer ameliorates ISO RGD:732909 D RGD:9068941 20220421 RGD human cells in mouse model PMID:30789971|REF_RGD_ID:151893289 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:732909 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:colon PMID:21425139|REF_RGD_ID:13209139 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:point mutation:cds:p.E17K (human) PMID:17611497|REF_RGD_ID:1643334 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2081 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:vascular associated smooth muscle cell PMID:19052261|REF_RGD_ID:2313556 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31626838 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:19289493|REF_RGD_ID:2311130 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:2081 D RGD:9068941 20200924 RGD PMID:24735788|REF_RGD_ID:39128151 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9452 fatty liver disease ISO RGD:732909 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9505 cannabis abuse ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21041608 12069545 AKT1 AKT serine/threonine kinase 1 gene DOID:9970 obesity ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23954404 12069567 IFI35 interferon induced protein 35 gene DOID:630 genetic disease ISO RGD:1312056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069567 IFI35 interferon induced protein 35 gene DOID:9001488 Human Influenza ISO RGD:1312056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12069567 IFI35 interferon induced protein 35 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12069567 IFI35 interferon induced protein 35 gene DOID:9003281 Spontaneous Abortions ISO RGD:1312056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12069578 HOXB1 homeobox B1 gene DOID:630 genetic disease ISO RGD:1321119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069578 HOXB1 homeobox B1 gene DOID:9001799 Hereditary Congenital Facial Paresis ISO RGD:1321119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24239177 12069578 HOXB1 homeobox B1 gene DOID:9006534 Nervous System Malformations ISO RGD:1321119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10529420 12069578 HOXB1 homeobox B1 gene DOID:9008662 Hereditary Congenital Facial Paresis 3 ISO RGD:1321119 D RGD:7240710 20180130 OMIM 12069578 HOXB1 homeobox B1 gene DOID:9008662 Hereditary Congenital Facial Paresis 3 ISO RGD:1321119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Facial paresis, hereditary congenital, 3 PMID:22770981|PMID:25741868|PMID:26007620|PMID:26467025|PMID:27144914|PMID:28492532 12069578 HOXB1 homeobox B1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1321119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10529420 12069586 PHF12 PHD finger protein 12 gene DOID:630 genetic disease ISO RGD:1313935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069586 PHF12 PHD finger protein 12 gene DOID:9008582 Developmental Disease ISO RGD:1313935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12069607 LOC609770 contactin-associated protein-like 3 gene DOID:630 genetic disease ISO RGD:1348176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069635 TIA1 TIA1 cytotoxic granule associated RNA binding protein gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1313955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gower's muscular dystrophy PMID:25741868|PMID:28492532|PMID:28817800|PMID:31996268 12069635 TIA1 TIA1 cytotoxic granule associated RNA binding protein gene DOID:224 transient cerebral ischemia ISO RGD:1305742 D RGD:9068941 20200609 RGD PMID:16055272|REF_RGD_ID:10059581 12069635 TIA1 TIA1 cytotoxic granule associated RNA binding protein gene DOID:630 genetic disease ISO RGD:1313955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069635 TIA1 TIA1 cytotoxic granule associated RNA binding protein gene DOID:9004406 Amyotrophic Lateral Sclerosis Type 26 ISO RGD:1313955 D RGD:7240710 20210113 OMIM 12069635 TIA1 TIA1 cytotoxic granule associated RNA binding protein gene DOID:9004406 Amyotrophic Lateral Sclerosis Type 26 ISO RGD:1313955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia PMID:28817800 12069635 TIA1 TIA1 cytotoxic granule associated RNA binding protein gene DOID:9008982 Welander Distal Myopathy, Swedish Type ISO RGD:1313955 D RGD:7240710 20180130 OMIM 12069635 TIA1 TIA1 cytotoxic granule associated RNA binding protein gene DOID:9008982 Welander Distal Myopathy, Swedish Type ISO RGD:1313955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Welander distal myopathy PMID:10482271|PMID:16199547|PMID:17576681|PMID:23348830|PMID:23401021|PMID:25741868|PMID:26467025|PMID:26627873|PMID:27282841|PMID:28492532|PMID:28817800|PMID:29216908|PMID:29886022|PMID:31996268|PMID:9536098 12069668 MED27 mediator complex subunit 27 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1349942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12069668 MED27 mediator complex subunit 27 gene DOID:1059 intellectual disability ISO RGD:1349942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12069668 MED27 mediator complex subunit 27 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1349942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12069668 MED27 mediator complex subunit 27 gene DOID:630 genetic disease ISO RGD:1349942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069668 MED27 mediator complex subunit 27 gene DOID:9003448 NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA ISO RGD:1349942 D RGD:7240710 20210519 OMIM 12069668 MED27 mediator complex subunit 27 gene DOID:9003448 NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA ISO RGD:1349942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia PMID:33443317 12069680 SLC24A1 solute carrier family 24 member 1 gene DOID:0050534 congenital stationary night blindness ISO RGD:736859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive PMID:28492532 12069680 SLC24A1 solute carrier family 24 member 1 gene DOID:0110868 congenital stationary night blindness 1D ISO RGD:736859 D RGD:7240710 20180130 OMIM 12069680 SLC24A1 solute carrier family 24 member 1 gene DOID:0110868 congenital stationary night blindness 1D ISO RGD:736859 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1D PMID:12037007|PMID:16199547|PMID:17576681|PMID:20850105|PMID:25741868|PMID:26822852|PMID:28492532|PMID:30902645|PMID:9536098 12069680 SLC24A1 solute carrier family 24 member 1 gene DOID:0110935 nemaline myopathy 6 ISO RGD:736859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12069680 SLC24A1 solute carrier family 24 member 1 gene DOID:10584 retinitis pigmentosa ISO RGD:736859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12037007|PMID:20850105|PMID:25741868|PMID:26822852|PMID:28492532 12069680 SLC24A1 solute carrier family 24 member 1 gene DOID:2717 Bloom syndrome ISO RGD:736859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12069680 SLC24A1 solute carrier family 24 member 1 gene DOID:630 genetic disease ISO RGD:736859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12069680 SLC24A1 solute carrier family 24 member 1 gene DOID:8501 fundus dystrophy ISO RGD:736859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12037007|PMID:20850105|PMID:25741868|PMID:26822852|PMID:28492532 12069680 SLC24A1 solute carrier family 24 member 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:620080 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cerebrum PMID:23564126|REF_RGD_ID:9685494 12069680 SLC24A1 solute carrier family 24 member 1 gene DOID:9256 colorectal cancer ISO RGD:736859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12069727 ILRUN inflammation and lipid regulator with UBA-like and NBR1-like domains gene DOID:0050553 JMP syndrome ISO RGD:1601978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12069770 MBD3L1 methyl-CpG binding domain protein 3 like 1 gene DOID:12849 autistic disorder ISO RGD:1317930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12069770 MBD3L1 methyl-CpG binding domain protein 3 like 1 gene DOID:630 genetic disease ISO RGD:1317930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069782 ZNF397 zinc finger protein 397 gene DOID:1059 intellectual disability ISO RGD:1314512 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12069782 ZNF397 zinc finger protein 397 gene DOID:630 genetic disease ISO RGD:1314512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069810 MSL1 MSL complex subunit 1 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:2307385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 12069810 MSL1 MSL complex subunit 1 gene DOID:630 genetic disease ISO RGD:2307385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069826 ZNF527 zinc finger protein 527 gene DOID:630 genetic disease ISO RGD:1347810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069917 ZNF583 zinc finger protein 583 gene DOID:630 genetic disease ISO RGD:1350167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069955 GALC galactosylceramidase gene DOID:0050952 spastic ataxia ISO RGD:1347926 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:26795590|PMID:27638593|PMID:28492532|PMID:32576985|PMID:34445196 12069955 GALC galactosylceramidase gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:1347926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 12069955 GALC galactosylceramidase gene DOID:10579 leukodystrophy ISO RGD:1347926 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:22520351|PMID:25741868|PMID:27638593|PMID:28492532|PMID:29286531|PMID:8940268|PMID:9338580 12069955 GALC galactosylceramidase gene DOID:10587 Krabbe disease IAGP D RGD:12801476 20220629 OMIA Krabbe disease PMID:4721757|PMID:1158775|PMID:970445|PMID:5099954|PMID:5538703|PMID:5484847|PMID:5167788|PMID:8661004|PMID:9741878|PMID:9987921|PMID:10752900|PMID:11074371|PMID:16490723|PMID:20839990|PMID:18808060|PMID:3895053|PMID:25260228|PMID:27638585|PMID:27491217|PMID:32219101|PMID:31794880|PMID:29316812|PMID:35333110|PMID:5950438|PMID:4327663|PMID:3372337|PMID:27638617|PMID:33851745 12069955 GALC galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1347926 D RGD:7240710 20180130 OMIM 12069955 GALC galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1347926 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30777126|PMID:31053700|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098 12069955 GALC galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1347926 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098 12069955 GALC galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1347926 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32342562|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:34445196|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098 12069955 GALC galactosylceramidase gene DOID:1059 intellectual disability ISO RGD:1347926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12069955 GALC galactosylceramidase gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1347926 D RGD:9068941 20200911 RGD mRNA:decreased expression:frontal cortex (human) PMID:30009661|REF_RGD_ID:38599170 12069955 GALC galactosylceramidase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1347926 D RGD:9068941 20200911 RGD associated with Guillain-Barre syndrome; protein:increased expression:Cerebrospinal fluid, serum (human) PMID:29301655|REF_RGD_ID:38599172 12069955 GALC galactosylceramidase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1347926 D RGD:9068941 20200911 RGD associated with Guillain-Barre syndrome; protein:increased expression:serum (human) PMID:12225900|PMID:27490360|REF_RGD_ID:38599168|REF_RGD_ID:38599169 12069955 GALC galactosylceramidase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1347926 D RGD:9068941 20200911 RGD protein:increased expression:serum (human) PMID:30396892|REF_RGD_ID:38599171 12069955 GALC galactosylceramidase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1552188 D RGD:9068941 20200911 RGD protein:increased expression:serum (mouse) PMID:30396892|REF_RGD_ID:38599171 12069955 GALC galactosylceramidase gene DOID:630 genetic disease ISO RGD:1347926 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20301416|PMID:20886637|PMID:21824559|PMID:21876145|PMID:22115770|PMID:22520351|PMID:23319190|PMID:24252386|PMID:24297913|PMID:25741868|PMID:26795590|PMID:26865610|PMID:27126738|PMID:27171547|PMID:27638583|PMID:27638592|PMID:27638593|PMID:28492532|PMID:30777126|PMID:32089546|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:8281145|PMID:8399327|PMID:8940268|PMID:9338580|PMID:9536098 12069955 GALC galactosylceramidase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12069955 GALC galactosylceramidase gene DOID:9006534 Nervous System Malformations ISO RGD:1347926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16199547|PMID:16607461|PMID:22115770|PMID:22520351|PMID:25741868|PMID:26795590|PMID:28492532|PMID:28547031|PMID:7437911|PMID:9272171 12069991 INPP5A inositol polyphosphate-5-phosphatase A gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1314631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12069991 INPP5A inositol polyphosphate-5-phosphatase A gene DOID:1749 squamous cell carcinoma ISO RGD:1314631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25759212 12069991 INPP5A inositol polyphosphate-5-phosphatase A gene DOID:37 skin disease ISO RGD:1314631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25759212 12069991 INPP5A inositol polyphosphate-5-phosphatase A gene DOID:5419 schizophrenia ISO RGD:1314631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12069991 INPP5A inositol polyphosphate-5-phosphatase A gene DOID:630 genetic disease ISO RGD:1314631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12069991 INPP5A inositol polyphosphate-5-phosphatase A gene DOID:9007964 Arsenic Poisoning ISO RGD:1314631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25759212 12070012 SLC22A4 solute carrier family 22 member 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733281 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12070012 SLC22A4 solute carrier family 22 member 4 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:733281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:20574985|PMID:28492532 12070012 SLC22A4 solute carrier family 22 member 4 gene DOID:630 genetic disease ISO RGD:733281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12070012 SLC22A4 solute carrier family 22 member 4 gene DOID:7148 rheumatoid arthritis ISO RGD:733281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis PMID:14608356 12070012 SLC22A4 solute carrier family 22 member 4 gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:733281 D RGD:7240710 20191218 OMIM 12070012 SLC22A4 solute carrier family 22 member 4 gene DOID:820 myocarditis ISO RGD:733281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 12070012 SLC22A4 solute carrier family 22 member 4 gene DOID:9000220 Coxsackievirus Infections ISO RGD:733281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 12070012 SLC22A4 solute carrier family 22 member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12070012 SLC22A4 solute carrier family 22 member 4 gene DOID:9004538 Hearing Loss ISO RGD:733281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary hearing loss and deafness PMID:27023905|PMID:28492532 12070012 SLC22A4 solute carrier family 22 member 4 gene DOID:9006549 Enterovirus Infections ISO RGD:733281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 12070012 SLC22A4 solute carrier family 22 member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12070012 SLC22A4 solute carrier family 22 member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733281 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:0040091 autoimmune pancreatitis severity ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms, haplotype:cds:HLA-DQB1*0302 (human) PMID:18155707|REF_RGD_ID:5147621 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:0050012 chikungunya susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism:cds: HLA-DQB1*03:03 (human) PMID:23710940|REF_RGD_ID:36049872 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:0050168 autoimmune polyendocrine syndrome type 2 susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms:cds:HLA-DQB1*02, HLA-DQB1*05 (human) PMID:21388354|REF_RGD_ID:5147565 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:0050185 erythema multiforme ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms (human) PMID:9627123|REF_RGD_ID:5147868 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:0050426 Stevens-Johnson syndrome susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism:cds:HLA-DQB1*0601 (human) PMID:8841298|REF_RGD_ID:7483570 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:0050553 JMP syndrome ISO RGD:1353906 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:0050748 marginal zone lymphoma ISO RGD:1353906 D RGD:9068941 20230413 RGD associated with Helicobacter Infections;DNA:polymorphism: :HLA-DQB1*0601 (human) PMID:16234023|REF_RGD_ID:5147794 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:0050784 primary progressive multiple sclerosis severity ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism: :HLA-DQB1*0602 (human) PMID:19616314|REF_RGD_ID:5147610 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:0050827 rheumatic heart disease ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms:cds:HLA-DQB1*08 (human) PMID:17578051|REF_RGD_ID:5147630 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:0050840 cervical dystonia ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism (human) PMID:20843162|REF_RGD_ID:5147570 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:0060025 immunoglobulin alpha deficiency ISO RGD:1353906 D RGD:9068941 20230413 RGD PMID:10931389|PMID:22291608|REF_RGD_ID:11041755|REF_RGD_ID:11041756 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:0060284 paroxysmal nocturnal hemoglobinuria ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism, haplotype PMID:12070003|REF_RGD_ID:11041765 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:0060532 latex allergy ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms (human) PMID:15536412|REF_RGD_ID:5147656 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:0060643 primary sclerosing cholangitis disease_progression ISO RGD:1353906 D RGD:9068941 20230413 RGD PMID:30487703|REF_RGD_ID:14865010 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:0060851 pemphigus vulgaris ISO RGD:1353906 D RGD:9068941 20230413 RGD PMID:28197992|REF_RGD_ID:14747041 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:0080600 COVID-19 ISO RGD:1353906 D RGD:9068941 20230413 RGD mRNA:decreased expression:memory B cells (human) PMID:32377375|REF_RGD_ID:32716422 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:0080822 aspirin-induced respiratory disease susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD PMID:25975240|REF_RGD_ID:11074090 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:0110429 dilated cardiomyopathy 1H susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms (human) PMID:10432437|REF_RGD_ID:5147858 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:0110429 dilated cardiomyopathy 1H susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms:cds:HLA-DQB1*0303 (human) PMID:15996167|REF_RGD_ID:5147650 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:1019 osteomyelitis susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD associated with Anemia, Sickle Cell;DNA:polymorphisms, haplotypes:cds:HLA-DQB1*050101, HLA-DQB1*0201, HLA-DQB1*0302 (human) PMID:18312480|REF_RGD_ID:11041747 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:10316 pneumoconiosis susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms:cds:HLA-DQB1*06, HLA-DQB1*08, HLA-DQB1*09 (human) PMID:16188098|REF_RGD_ID:7421557 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:10325 silicosis ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism: :HLA-DQB1*0402(human) PMID:11776400|REF_RGD_ID:36049758 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:104 bacterial infectious disease onset ISO RGD:1353906 D RGD:9068941 20230413 RGD associated with Cystic Fibrosis;DNA:polymorphism (human) PMID:16987934|REF_RGD_ID:5147635 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:10591 pre-eclampsia susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism:cds:HLA-DQB1*04 (human) PMID:10960630|REF_RGD_ID:36174024 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:10608 celiac disease susceptibility ISO RGD:1353906 D RGD:7240710 20230517 OMIM 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms:cds:HLA-DQB1*0301 (human) PMID:19922436|REF_RGD_ID:11041754 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:10923 sickle cell anemia ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism, haplotype PMID:19254255|REF_RGD_ID:11041761 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:11165 common wart susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism: :HLA-DQB1*0301 PMID:15257408|REF_RGD_ID:36049812 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:11335 sarcoidosis susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms: :HLA-DQBl*O603, DQB1*0604(human) PMID:9659531|REF_RGD_ID:36174017 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:11336 rhinoscleroma susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:haplotype: : PMID:17321882|REF_RGD_ID:8547664 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:11339 pneumocystosis ISO RGD:3469 D RGD:9068941 20230413 RGD PMID:20377877|REF_RGD_ID:4144112 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:11656 cicatricial pemphigoid susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism:cds:HLA-DQB1*0301 (human) PMID:9008223|REF_RGD_ID:7483589 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:11656 cicatricial pemphigoid susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0201 (human) PMID:9683867|REF_RGD_ID:7365096 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:11829 degenerative myopia ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms:cds:multiple (human) PMID:10887689|REF_RGD_ID:7483572 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:11829 degenerative myopia susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms:cds:multiple (human) PMID:11864433|REF_RGD_ID:7421542 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:11949 Creutzfeldt-Jakob disease susceptibility ISO RGD:1353906 D RGD:7240710 20230517 OMIM 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:1205 allergic disease ISO RGD:1353906 D RGD:9068941 20230413 CTD CTD Direct Evidence: marker/mechanism PMID:8725357 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:1205 allergic disease ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism (human) PMID:10689122|PMID:16112029|REF_RGD_ID:5147814|REF_RGD_ID:5147826 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:1205 allergic disease ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms (human) PMID:10202362|REF_RGD_ID:5147866 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:1205 allergic disease susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism (human) PMID:15853900|PMID:20684489|REF_RGD_ID:5147606|REF_RGD_ID:5147651 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:1210 optic neuritis susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism:cds:HLA-DQB1*0602 (human) PMID:9006417|REF_RGD_ID:7483596 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:12148 alveolar echinococcosis disease_progression ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism: :HLA-DQB1*02(human) PMID:9756400|REF_RGD_ID:36174003 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms (human) PMID:10361244|REF_RGD_ID:5147864 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:12241 beta thalassemia ISO RGD:1353906 D RGD:9068941 20230413 RGD PMID:12513847|REF_RGD_ID:11041746 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:12297 Vogt-Koyanagi-Harada disease ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms:cds:multiple (human) PMID:17605936|REF_RGD_ID:7421525 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:12297 Vogt-Koyanagi-Harada disease susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:snps:promoter:g.-227G>A, g.-189C>A (human) PMID:19176112|REF_RGD_ID:7421581 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:12306 vitiligo ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms (human) PMID:16420246|REF_RGD_ID:5147644 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:12306 vitiligo susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism:HLA-DQB1*0201(human) PMID:9653015|REF_RGD_ID:36174006 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:12361 Graves' disease susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism:cds:HLA-DQB1*0602 (human) PMID:11272094|REF_RGD_ID:7483568 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:12361 Graves' disease susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms:cds:HLA-DQB1*0303, HLA-DQB1*201 (human) PMID:10468909|REF_RGD_ID:7421572 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:12449 aplastic anemia ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism, haplotype PMID:12070003|REF_RGD_ID:11041765 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:12449 aplastic anemia severity ISO RGD:1353906 D RGD:9068941 20230413 RGD PMID:24979673|REF_RGD_ID:11041757 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:12449 aplastic anemia treatment ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism, haplotype PMID:7994040|REF_RGD_ID:11041775 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:1245 vulva cancer susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD associated with Papillomavirus Infections;DNA:polymorphisms: :HLA-DQB1*03032,DQB1*5(human) PMID:12543794|REF_RGD_ID:2314696 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:12859 choreatic disease ISO RGD:1353906 D RGD:9068941 20230413 RGD associated with Rheumatic Fever;DNA:polymorphism (human) PMID:17559688|REF_RGD_ID:5147792 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:12894 Sjogren's syndrome ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0401, HLA-DQB1*0601 (human) PMID:8468491|REF_RGD_ID:7483566 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:12894 Sjogren's syndrome susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms:cds:HLA-DQB1*0201 (human) PMID:21315052|REF_RGD_ID:7421543 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:12894 Sjogren's syndrome susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD associated with Chronic Hepatitis C;DNA:polymorphism:cds:HLA-DQB1*02 (human) PMID:17489060|REF_RGD_ID:36174022 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1353906 D RGD:9068941 20230413 RGD PMID:9220309|REF_RGD_ID:13702906 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:12987 agranulocytosis ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:SNP: :6672G>C (human) PMID:20868635|REF_RGD_ID:11041752 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:13141 uveitis ISO RGD:3469 D RGD:9068941 20230413 RGD associated with Encephalomyelitis, Autoimmune, Experimental PMID:16723470|REF_RGD_ID:5147639 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:13166 allergic bronchopulmonary aspergillosis susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD associated with cystic fibrosis; DNA:polymorphisms: :DQB1*06:02, DQB1*02:01(human) PMID:23278646|REF_RGD_ID:36049760 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:13241 Behcet's disease susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms:cds:multiple (human) PMID:23396137|REF_RGD_ID:7483565 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:13258 typhoid fever susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms:: PMID:11120931|REF_RGD_ID:36049756 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:1340 pure red-cell aplasia susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms, haplotype:cds:HLA-DQB1*0309 (human) PMID:18689790|REF_RGD_ID:11041748 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:13774 Addison's disease ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism (human) PMID:20455895|REF_RGD_ID:5147608 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:13774 Addison's disease ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:repeat (human) PMID:12072047|REF_RGD_ID:5147829 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:14040 autoimmune polyendocrine syndrome susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms:cds:HLA-DQB1*0401 (human) PMID:16254435|REF_RGD_ID:5147646 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:14067 Plasmodium falciparum malaria susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism:cds:HLA-DQB1*0501 (human) PMID:11076705|REF_RGD_ID:11041780 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:1459 hypothyroidism susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms:cds:HLA-DQB1*03, HLA-DQB1*05 (human) PMID:17588142|REF_RGD_ID:5147628 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:1495 cystic echinococcosis ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms: :HLA-DQB1*0.9, DQB1*02(human) PMID:22308705|REF_RGD_ID:36174019 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:1555 urticaria ISO RGD:1353906 D RGD:9068941 20230413 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:1558 angioedema ISO RGD:1353906 D RGD:9068941 20230413 CTD CTD Direct Evidence: marker/mechanism PMID:15784113 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:1586 rheumatic fever ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms, haplotypes:multiple PMID:17559688|REF_RGD_ID:5147792 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:1686 glaucoma susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms, haplotype:cds:HLA-DQB1*0302 (human) PMID:10511023|REF_RGD_ID:7365116 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:1883 hepatitis C ISO RGD:1353906 D RGD:9068941 20230413 RGD associated with Beta-Thalassemia PMID:22155912|REF_RGD_ID:11041750 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:1883 hepatitis C disease_progression ISO RGD:1353906 D RGD:9068941 20230413 RGD PMID:27340680|PMID:27599887|REF_RGD_ID:14928326|REF_RGD_ID:14928327 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:1883 hepatitis C susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism:cds:HLA-DQB1*03, *0501 (human) PMID:21535077|REF_RGD_ID:40902997 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:2043 hepatitis B ISO RGD:1353906 D RGD:9068941 20230413 RGD PMID:29979894|REF_RGD_ID:14865006 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:2043 hepatitis B treatment ISO RGD:1353906 D RGD:9068941 20230413 RGD PMID:29042702|REF_RGD_ID:14865007 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:2048 autoimmune hepatitis ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism (human) PMID:17050030|PMID:20007077|REF_RGD_ID:5147584|REF_RGD_ID:5147634 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:216 dental caries ISO RGD:1353906 D RGD:9068941 20230413 RGD PMID:29594988|REF_RGD_ID:14928324 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1353906 D RGD:7240710 20230517 OMIM 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:2841 asthma ISO RGD:1353906 D RGD:9068941 20230413 CTD CTD Direct Evidence: marker/mechanism PMID:10792356 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:2841 asthma ISO RGD:1353906 D RGD:9068941 20230413 RGD Alternaria sensitive asthma PMID:20298583|REF_RGD_ID:4144113 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:2841 asthma ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms (human) PMID:11802952|PMID:12890388|PMID:19052351|REF_RGD_ID:5147617|REF_RGD_ID:5147799|REF_RGD_ID:5147831 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:2841 asthma disease_progression ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms: : PMID:20214848|REF_RGD_ID:4144181 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:2841 asthma no_association ISO RGD:1353906 D RGD:9068941 20230413 RGD PMID:23331206|REF_RGD_ID:13506906 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:2841 asthma susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms: : PMID:20159242|REF_RGD_ID:13506913 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism: :HLA-DQB1*3:03(human) PMID:28612994|REF_RGD_ID:36049765 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:2957 pulmonary tuberculosis disease_progression ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms (human) PMID:19230186|REF_RGD_ID:5147614 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism:cds:HLA-DQB1*0201(human) PMID:24024195|REF_RGD_ID:36049753 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1353906 D RGD:9068941 20230413 CTD CTD Direct Evidence: marker/mechanism PMID:25305756 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism: :HLA-DQB1*0301(human) PMID:7638860|REF_RGD_ID:36174018 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:2988 antiphospholipid syndrome ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms: :multiple (human) PMID:11157139|REF_RGD_ID:5147862 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:321 tropical spastic paraparesis susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD PMID:25729550|REF_RGD_ID:36174012 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:399 tuberculosis susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-DQB1*05 PMID:19030725|REF_RGD_ID:36049809 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:401 multidrug-resistant tuberculosis ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms (human) PMID:14522182|REF_RGD_ID:5147828 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:417 autoimmune disease ISO RGD:1353906 D RGD:9068941 20230413 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphisms: :multiple (human) PMID:21744463|REF_RGD_ID:5147554 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:417 autoimmune disease ISO RGD:1353906 D RGD:9068941 20230413 RGD associated with Neutropenia PMID:19210322|REF_RGD_ID:11041759 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:418 systemic scleroderma ISO RGD:1353906 D RGD:9068941 20230413 CTD CTD Direct Evidence: marker/mechanism PMID:20383147 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:4362 cervical cancer susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms::HLA-DQB1*050201, DQB1*060101, DQB1*0602(human) PMID:16425277|REF_RGD_ID:36174023 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:4362 cervical cancer susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD associated with Papillomavirus Infections;DNA:polymorphism: :HLA-DQB1 G > A (rs6457617)(human) PMID:25893807|REF_RGD_ID:36174015 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:437 myasthenia gravis ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism, haplotype:cds:HLA-DQB1*0302 (human) PMID:10593018|REF_RGD_ID:5147855 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:437 myasthenia gravis susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms: :HLA-DBQ1*0301, HLA-DBQ1*0502, HLA-DBQ1*0602/3 (human) PMID:19561379|REF_RGD_ID:5147612 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:4483 rhinitis susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism:cds:HLA-DQB1*0602 (human) PMID:14990915|REF_RGD_ID:5147798 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD associated with Schistosomiasis Japonica;DNA:polymorphisms: :HLA-DQB1*0303, HLA-DQB1*0601, HLA-DQB1*0609(human) PMID:11336748|REF_RGD_ID:36049755 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms (human) PMID:18427198|REF_RGD_ID:5147817 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms: :multiple (human) PMID:20345872|REF_RGD_ID:5147659 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:633 myositis ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism, haplotype:cds:HLA-DQB1*02 (human) PMID:17586554|REF_RGD_ID:5147629 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:639 acute disseminated encephalomyelitis susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism (human) PMID:19722042|REF_RGD_ID:5147662 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:639 acute disseminated encephalomyelitis susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism, haplotype: : PMID:22786832|REF_RGD_ID:36049763 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism (human) PMID:10457895|REF_RGD_ID:5147863 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1353906 D RGD:9068941 20230413 RGD associated with hepatitis C;DNA:SNPs,haplotypes PMID:28921602|REF_RGD_ID:14974233 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1353906 D RGD:9068941 20230413 RGD associated with hepatitis B PMID:27288300|REF_RGD_ID:14928325 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:7147 ankylosing spondylitis severity ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism:cds:HLA-DQB1*0603 (human) PMID:19565552|REF_RGD_ID:5147611 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism (human) PMID:11454644|REF_RGD_ID:5147860 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:7188 autoimmune thyroiditis ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms, haplotype:cds:HLA-DQB1*0401 (human) PMID:20825955|REF_RGD_ID:5147571 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:76 stomach disease susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD associated with Helicobacter Infections;DNA:polymorphisms:cds:HLA-DQB1*03 (human) PMID:20405713|REF_RGD_ID:5147609 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:7998 hyperthyroidism susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism, haplotype:cds:HLA-DQB1*0602 (human) PMID:17194971|REF_RGD_ID:7421571 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:820 myocarditis ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism:cds:HLA-DQB1*0303 (human) PMID:19127454|REF_RGD_ID:5147615 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:848 arthritis ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism (human) PMID:20472930|REF_RGD_ID:5147787 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism, haplotype PMID:17893434|REF_RGD_ID:11041777 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:8577 ulcerative colitis ISO RGD:1353906 D RGD:9068941 20230413 RGD PMID:31038770|REF_RGD_ID:14865009 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:8691 mycosis fungoides susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism:cds:HLA-DQB1*03 (human) PMID:15761416|REF_RGD_ID:7483574 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:8778 Crohn's disease ISO RGD:1353906 D RGD:9068941 20230413 RGD PMID:29358886|REF_RGD_ID:14974239 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:8869 neuromyelitis optica susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism:: HLA-DQB1*02:02 (human) PMID:27049564|REF_RGD_ID:11530523 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:8869 neuromyelitis optica susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism:cds:HLA-DQB1*0402 (human) PMID:21908482|REF_RGD_ID:7421588 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:8893 psoriasis susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms:cds:HLA-DQB1*0201, HLA-DQB1*0303 (human) PMID:15009387|REF_RGD_ID:5147797 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms:cds:HLA-DQB1*0401 (human) PMID:10435723|REF_RGD_ID:11041758 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:8929 atrophic gastritis ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism (human) PMID:20082482|REF_RGD_ID:5147582 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:8929 atrophic gastritis susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD associated with Helicobacter Infections; DNA:polymorphism: :HLA- DQB1*0401(human) PMID:10616761|REF_RGD_ID:36174021 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:8947 diabetic retinopathy severity ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms, haplotype:cds:HLA-DQB1*0201, HLA-DQB1*0302 (human) PMID:8932997|REF_RGD_ID:7483573 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0501, HLA-DQB1*0504 (human) PMID:19551681|REF_RGD_ID:7421552 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:8986 narcolepsy ISO RGD:1353906 D RGD:9068941 20230413 CTD CTD Direct Evidence: marker/mechanism PMID:20711174 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:8986 narcolepsy susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms:cds:multiple PMID:11179016|REF_RGD_ID:5147861 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9000877 Rhinosinusitis, Allergic Fungal ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0302 (human) PMID:15577839|REF_RGD_ID:5147654 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9000906 Oropharyngeal Neoplasms ISO RGD:1353906 D RGD:9068941 20230413 CTD CTD Direct Evidence: marker/mechanism PMID:27749845 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9001365 Amebic Liver Abscess susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism, haplotype: :HLA-DQB1*04, HLA-DQB1*02 PMID:25938667|REF_RGD_ID:36049810 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9001472 Nasal Polyps ISO RGD:1353906 D RGD:9068941 20230413 RGD associated with intrinsic asthma;DNA:polymorphism, haplotype:cds:HLA-DQB1*0202 (human) PMID:10718431|REF_RGD_ID:5147813 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9001472 Nasal Polyps susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:haplotype: : HLA-DQB1*0201; PMID:16890076|REF_RGD_ID:8547658 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9002272 Small Fiber Neuropathy ISO RGD:1353906 D RGD:9068941 20230413 RGD associated with sarcoidosis;DNA:polymorphisms:cds:HLA-DQB1*0602 (human) PMID:16053028|REF_RGD_ID:5147648 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:3469 D RGD:9068941 20230413 RGD PMID:9834080|REF_RGD_ID:5147666 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9002695 Cataplexy ISO RGD:1353906 D RGD:9068941 20230413 RGD associated with Narcolepsy;DNA:polymorphism (human) PMID:17297265|REF_RGD_ID:5147632 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1353906 D RGD:9068941 20230413 RGD PMID:16194572|REF_RGD_ID:5147647 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3469 D RGD:9068941 20230413 RGD PMID:16723470|PMID:9834080|REF_RGD_ID:5147639|REF_RGD_ID:5147666 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9002780 Recurrent Respiratory Papillomatosis severity ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism: :HLA-DQB1*0602(human) PMID:19861144|REF_RGD_ID:36174013 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9002780 Recurrent Respiratory Papillomatosis severity ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms:cds:HLA-DQB1*0201, HLA-DQB1*0602 (human) PMID:15336778|REF_RGD_ID:5147657 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism:cds:HLA-DQB1*02 (human) PMID:17489060|REF_RGD_ID:36174022 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9004096 Veno-Occlusive Disease ISO RGD:1353906 D RGD:9068941 20230413 RGD associated with Anemia, Sickle Cell PMID:18272668|REF_RGD_ID:11041760 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9004283 Transplant Rejection ISO RGD:3469 D RGD:9068941 20230413 RGD PMID:1547813|REF_RGD_ID:7421554 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9004486 Drug-induced Neutropenia ISO RGD:1353906 D RGD:9068941 20230413 RGD PMID:27400856|REF_RGD_ID:14928329 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9004576 Sleep Initiation and Maintenance Disorders severity ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism:cds:HLA-DQB1*0602 (human) PMID:21292329|REF_RGD_ID:5147604 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9004735 Idiopathic Hypersomnolence ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism (human) PMID:19927159|REF_RGD_ID:5147660 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9005236 Drug Eruptions ISO RGD:1353906 D RGD:9068941 20230413 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9006096 Uterine Cervical Dysplasia susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms: :DQB1*0302, DQB1*0301, DQB1*0601 (human) PMID:16803516|REF_RGD_ID:36049759 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9006404 Tubulointerstitial Nephritis and Uveitis ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms:cds:HLA-DQB1*05, HLA-DQB1*0501 (human) PMID:12556395|REF_RGD_ID:5147802 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9007096 Stroke susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism:cds:HLA-DQB1*0402 (human) PMID:12373032|REF_RGD_ID:5147804 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9007355 Hashimoto Disease susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms (human) PMID:19254248|REF_RGD_ID:5147613 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9007355 Hashimoto Disease susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphism:cds:HLA-DQB1*0302 (human) PMID:8157715|REF_RGD_ID:7483569 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353906 D RGD:9068941 20230413 CTD CTD Direct Evidence: marker/mechanism PMID:21570397 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism, haplotype PMID:26959717|REF_RGD_ID:11573514 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism: :HLA-DQB1*05(human) PMID:25250564|REF_RGD_ID:36174016 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9007996 End Stage Liver Disease susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD associated with hepatitis C;DNA:polymorphism: :HLA-DQB1*03(human) PMID:11302974|REF_RGD_ID:36174014 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9008103 Seasonal Allergic Rhinitis susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism:cds:HLA-DQB1*05 (human) PMID:22032123|REF_RGD_ID:7421561 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9008103 Seasonal Allergic Rhinitis susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms, haplotype:cds:HLA-DQB1*0301, HLA-DQB1*0501 (human) PMID:9641569|REF_RGD_ID:7421576 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9008114 Helicobacter Infections ISO RGD:1353906 D RGD:9068941 20230413 RGD associated with Purpura, Thrombocytopenic, Idiopathic;DNA:polymorphisms (human) PMID:16011982|REF_RGD_ID:5147649 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9008114 Helicobacter Infections susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms: :HLA-DQB1*301, HLA-DQB1*04(human) PMID:15833172|REF_RGD_ID:36049761 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms (human) PMID:16893387|REF_RGD_ID:5147637 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms: :multiple PMID:29287219|REF_RGD_ID:14865012 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9008163 Chronic Hepatitis B no_association ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:SNP: :rs2856718 (human) PMID:28267888|REF_RGD_ID:14974232 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism: :HLA-DQB1*07(human) PMID:16237774|REF_RGD_ID:36049762 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms: :multiple (human) PMID:18552411|PMID:21658414|REF_RGD_ID:5147560|REF_RGD_ID:5147620 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms:cds:HLA-DQB1*0201 (human) PMID:12651073|REF_RGD_ID:40902999 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1353906 D RGD:9068941 20230413 RGD PMID:17237562|PMID:20051322|REF_RGD_ID:11041763|REF_RGD_ID:11041776 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9164 achalasia ISO RGD:1353906 D RGD:9068941 20230413 CTD CTD Direct Evidence: marker/mechanism PMID:24997987 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9164 achalasia ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:SNP::rs28688207 (human) PMID:30788115|REF_RGD_ID:14974238 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9164 achalasia ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism (human) PMID:11837716|REF_RGD_ID:5147806 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9164 achalasia ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism, haplotype PMID:30092016|REF_RGD_ID:14865011 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9182 pemphigus ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms:cds:HLA-DQB1*0302, HLA-DQB1*0502 (human) PMID:18780165|REF_RGD_ID:5147619 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9256 colorectal cancer ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:CNVs PMID:31001878|REF_RGD_ID:14974237 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9383 iridocyclitis susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD associated with Juvenile pauciarticular chronic arthritis;DNA:polymorphism:cds:HLA-DQB1*0301 (human) PMID:1625093|REF_RGD_ID:7421584 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1353906 D RGD:9068941 20230413 CTD CTD Direct Evidence: marker/mechanism PMID:26168013 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1353906 D RGD:9068941 20230413 RGD PMID:28247576|REF_RGD_ID:14865008 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0502 (human) PMID:17728790|REF_RGD_ID:5147626 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1353906 D RGD:9068941 20230413 RGD associated with Sclerosing Lymphocytic Lobulitis PMID:10562813|REF_RGD_ID:11041764 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms, haplotypes:cds:multiple (human) PMID:20510319|REF_RGD_ID:5147575 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms, haplotypes:cds:multiple (human) PMID:20858521|REF_RGD_ID:5147569 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:986 alopecia areata susceptibility ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphism: : HLA-DQB1*0604; PMID:16231148|REF_RGD_ID:8547568 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms, haplotype:cds:HLA-DQB1*0501 (human) PMID:9744491|REF_RGD_ID:11041762 12070031 DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1353906 D RGD:9068941 20230413 RGD DNA:polymorphisms, haplotypes:cds:multiple PMID:22434102|REF_RGD_ID:11041749 12070031 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:10608 celiac disease ISO RGD:1353906 D RGD:9068941 20230518 RGD PMID:28247576|PMID:30013750|REF_RGD_ID:14865008|REF_RGD_ID:14928328 12070031 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:10608 celiac disease ISO RGD:1353906 D RGD:9068941 20230518 RGD DNA:polymorphism (human) PMID:19494267|REF_RGD_ID:5147789 12070031 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:10608 celiac disease ISO RGD:1353906 D RGD:9068941 20230518 RGD DNA:polymorphisms PMID:29793442|REF_RGD_ID:14974234 12070031 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:10608 celiac disease ISO RGD:1353906 D RGD:9068941 20230518 RGD DNA:polymorphisms, haplotypes:multiple (human) PMID:18509540|REF_RGD_ID:5147791 12070031 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:10608 celiac disease ISO RGD:1353906 D RGD:9068941 20230518 RGD associated with Down Syndrome;DNA:polymorphisms, haplotype:HLA-DQB1*0201 (human) PMID:11426458|REF_RGD_ID:5147854 12070031 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 gene DOID:10608 celiac disease ISO RGD:1353906 D RGD:9068941 20230518 RGD associated with Thyroiditis, Autoimmune;DNA:polymorphisms, haplotype:HLA-DQB1*02 (human) PMID:11713456|REF_RGD_ID:5147808 12070038 NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 gene DOID:0112079 nuclear type mitochondrial complex I deficiency 24 ISO RGD:1316117 D RGD:7240710 20190315 OMIM 12070038 NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 gene DOID:0112079 nuclear type mitochondrial complex I deficiency 24 ISO RGD:1316117 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 PMID:22200994|PMID:25741868|PMID:28492532 12070038 NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1316117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12070038 NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 gene DOID:630 genetic disease ISO RGD:1316117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12070038 NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 gene DOID:9004657 Weight Gain ISO RGD:1316117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12070051 PSAT1 phosphoserine aminotransferase 1 gene DOID:0050723 PSAT deficiency ISO RGD:1607031 D RGD:7240710 20180130 OMIM 12070051 PSAT1 phosphoserine aminotransferase 1 gene DOID:0050723 PSAT deficiency ISO RGD:1607031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PSAT deficiency PMID:17436247|PMID:17576681|PMID:25741868|PMID:28492532|PMID:32077105|PMID:34089226|PMID:9536098 12070051 PSAT1 phosphoserine aminotransferase 1 gene DOID:0080075 Neu-Laxova syndrome 2 ISO RGD:1607031 D RGD:7240710 20180130 OMIM 12070051 PSAT1 phosphoserine aminotransferase 1 gene DOID:0080075 Neu-Laxova syndrome 2 ISO RGD:1607031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neu-Laxova syndrome 2 PMID:16199547|PMID:17436247|PMID:17576681|PMID:25152457|PMID:25741868|PMID:26960553|PMID:28492532|PMID:30293248|PMID:31903955|PMID:32077105|PMID:32579715|PMID:34089226|PMID:9536098 12070051 PSAT1 phosphoserine aminotransferase 1 gene DOID:0080076 Neu-Laxova syndrome 1 ISO RGD:1607031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12070051 PSAT1 phosphoserine aminotransferase 1 gene DOID:10907 microcephaly ISO RGD:1607031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:32077105|PMID:34089226 12070051 PSAT1 phosphoserine aminotransferase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1607031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26482881 12070051 PSAT1 phosphoserine aminotransferase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1607031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12070051 PSAT1 phosphoserine aminotransferase 1 gene DOID:630 genetic disease ISO RGD:1607031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070051 PSAT1 phosphoserine aminotransferase 1 gene DOID:9002189 High Myopia ISO RGD:1607031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532|PMID:32077105 12070051 PSAT1 phosphoserine aminotransferase 1 gene DOID:9006205 Animal Disease Models ISO RGD:1607031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12070064 PARP4 poly(ADP-ribose) polymerase family member 4 gene DOID:630 genetic disease ISO RGD:1606845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070064 PARP4 poly(ADP-ribose) polymerase family member 4 gene DOID:9002928 Colonic Neoplasms ISO RGD:1606845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16204055 12070064 PARP4 poly(ADP-ribose) polymerase family member 4 gene DOID:9002928 Colonic Neoplasms exacerbates ISO RGD:1553510 D RGD:9068941 20220602 RGD PMID:16204055|REF_RGD_ID:152977751 12070117 HSPA14 heat shock protein family A (Hsp70) member 14 gene DOID:630 genetic disease ISO RGD:1350459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070135 TCERG1 transcription elongation regulator 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323365 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12070135 TCERG1 transcription elongation regulator 1 gene DOID:630 genetic disease ISO RGD:1323365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070135 TCERG1 transcription elongation regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12070135 TCERG1 transcription elongation regulator 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323365 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12070135 TCERG1 transcription elongation regulator 1 gene DOID:9256 colorectal cancer ISO RGD:1323365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 12070170 RIOX2 ribosomal oxygenase 2 gene DOID:630 genetic disease ISO RGD:1602998 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070170 RIOX2 ribosomal oxygenase 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1602998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15897898 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:735373 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:18356561|PMID:19555857|PMID:20002458|PMID:20534176|PMID:21737554|PMID:25741868|PMID:26387786|PMID:28492532 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:735373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:0081268 pulmonary venoocclusive disease 1 ISO RGD:735373 D RGD:7240710 20180718 OMIM 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:0081268 pulmonary venoocclusive disease 1 ISO RGD:735373 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1 | ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1, autosomal dominant PMID:11115378|PMID:12446270|PMID:15591269|PMID:16429395|PMID:16429403|PMID:18626305|PMID:19555857|PMID:20534176|PMID:21801371|PMID:25741868|PMID:26387786|PMID:28492532|PMID:28507310|PMID:32581362 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:735373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:11613 hyperandrogenism ISO RGD:735373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22825968 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:13374 fibrodysplasia ossificans progressiva ISO RGD:735373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myositis ossificans 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:735373 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension | ClinVar Annotator: match by term: Primary pulmonary hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, dexfenfluramine-associated | ClinVar Annotator: match by term: Pulmonary hypertension, primary, fenfluramine-associated PMID:10903931|PMID:10973254|PMID:11015450|PMID:11115378|PMID:11502704|PMID:11536076|PMID:12045205|PMID:12139571|PMID:12358323|PMID:12417513|PMID:12821254|PMID:14985116|PMID:15059534|PMID:15146475|PMID:15358693|PMID:15591269|PMID:15775752|PMID:15965979|PMID:16199547|PMID:16429395|PMID:16429403|PMID:16717148|PMID:16728714|PMID:17515463|PMID:17576681|PMID:18159113|PMID:18321866|PMID:18356561|PMID:18503968|PMID:19206171|PMID:19223935|PMID:19324947|PMID:19555857|PMID:19844076|PMID:20002458|PMID:20096498|PMID:20534176|PMID:21070126|PMID:21228398|PMID:21737554|PMID:21801371|PMID:21920918|PMID:22632830|PMID:22995991|PMID:23298310|PMID:23579436|PMID:23592887|PMID:23675998|PMID:24033266|PMID:24936649|PMID:25187962|PMID:25429696|PMID:25612240|PMID:25640679|PMID:25688877|PMID:25741868|PMID:25917481|PMID:26387786|PMID:26645265|PMID:26699722|PMID:26820968|PMID:27453251|PMID:27630060|PMID:27811071|PMID:27816994|PMID:27884767|PMID:28388887|PMID:28480048|PMID:28492532|PMID:28507310|PMID:29631995|PMID:29650961|PMID:29743074|PMID:29843651|PMID:30029678|PMID:30578397|PMID:30679663|PMID:30957726|PMID:31727138|PMID:31797984|PMID:32581362|PMID:3291115|PMID:33066286|PMID:9536098 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:1681 heart septal defect ISO RGD:735373 D RGD:9068941 20200609 RGD PMID:21070126|REF_RGD_ID:5129230 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:1826 epilepsy ISO RGD:735373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:12358323|PMID:25741868|PMID:28492532 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:2841 asthma ISO RGD:735373 D RGD:9068941 20200609 RGD protein:decreased expression:bronchus PMID:18292470|REF_RGD_ID:5129470 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:341 peripheral vascular disease ISO RGD:735374 D RGD:9068941 20200609 RGD PMID:18723761|REF_RGD_ID:5129473 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:735373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735373 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18356561|PMID:19555857|PMID:20002458|PMID:20534176|PMID:21737554|PMID:25741868|PMID:26387786|PMID:28492532 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:630 genetic disease ISO RGD:735373 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension ISO RGD:71082 D RGD:9068941 20200924 RGD protein:decreased expression:lung PMID:25593290|REF_RGD_ID:38500244 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension ISO RGD:71082 D RGD:9068941 20201211 RGD induced by human ad-ALOX5 PMID:31462075|REF_RGD_ID:14975304 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension ISO RGD:735373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11590841|PMID:11893684|PMID:12358323|PMID:16297860|PMID:20496075|PMID:20522807|PMID:23383100|PMID:23502781|PMID:24224048 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension ISO RGD:735373 D RGD:9068941 20200609 RGD PMID:15775752|PMID:19324947|REF_RGD_ID:1580076|REF_RGD_ID:5129472 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension ISO RGD:735373 D RGD:9068941 20200609 RGD DNA:mutations: :multiple (human) PMID:20002458|PMID:20534176|REF_RGD_ID:5129237|REF_RGD_ID:5129238 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension ISO RGD:735374 D RGD:9068941 20200609 RGD PMID:18663089|REF_RGD_ID:5129474 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension disease_progression ISO RGD:735373 D RGD:9068941 20200609 RGD DNA:missense mutations (human) PMID:19785764|REF_RGD_ID:5129239 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension treatment ISO RGD:735373 D RGD:9068941 20201001 RGD PMID:21737550|REF_RGD_ID:38500243 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:9000998 Brain Injuries ISO RGD:71082 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus, neuron PMID:9080432|REF_RGD_ID:5129488 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:735373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:10903931|PMID:10973254|PMID:11015450|PMID:11115378|PMID:11502704|PMID:11536076|PMID:12045205|PMID:12358323|PMID:12417513|PMID:12821254|PMID:14985116|PMID:15059534|PMID:15146475|PMID:15358693|PMID:15591269|PMID:15687131|PMID:15965979|PMID:16199547|PMID:16429395|PMID:16717148|PMID:17515463|PMID:18159113|PMID:18321866|PMID:18356561|PMID:18503968|PMID:19555857|PMID:20002458|PMID:20095988|PMID:20096498|PMID:20534176|PMID:21737554|PMID:21801371|PMID:23298310|PMID:23579436|PMID:23592887|PMID:23675998|PMID:24591673|PMID:25187962|PMID:25429696|PMID:25612240|PMID:25688877|PMID:25741868|PMID:26387786|PMID:26645265|PMID:27884767|PMID:28388887|PMID:28480048|PMID:28492532|PMID:29631995|PMID:29650961|PMID:29843651|PMID:30029678|PMID:30578397|PMID:31727138|PMID:32581362|PMID:3291115 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:9004009 Reperfusion Injury ISO RGD:71082 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus, granule cell PMID:10996456|REF_RGD_ID:5129486 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:9004771 Vascular Remodeling ISO RGD:71082 D RGD:9068941 20201211 RGD PMID:25593290|REF_RGD_ID:38500244 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:9005151 Selective Tooth Agenesis 1 ISO RGD:735373 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 1 PMID:19555857|PMID:20002458|PMID:21737554|PMID:25741868|PMID:26387786|PMID:28492532 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:71082 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21521772|REF_RGD_ID:5135278 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:735373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:9008582 Developmental Disease ISO RGD:735373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:9008763 Femoral Fractures ISO RGD:71082 D RGD:9068941 20200609 RGD PMID:9626398|REF_RGD_ID:2289041 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:9008939 Breast Neoplasms ISO RGD:735373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23180569 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:735373 D RGD:7240710 20180905 OMIM 12070199 BMPR2 bone morphogenetic protein receptor type 2 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:735373 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia PMID:10903931|PMID:10973254|PMID:11015450|PMID:11115378|PMID:11502704|PMID:11536076|PMID:12045205|PMID:12139571|PMID:12358323|PMID:12417513|PMID:12446270|PMID:12821254|PMID:14516151|PMID:14583445|PMID:14985116|PMID:15055271|PMID:15059534|PMID:15146475|PMID:15170098|PMID:15358693|PMID:15591269|PMID:15687131|PMID:15775752|PMID:15965979|PMID:16199547|PMID:16429395|PMID:16429403|PMID:16717148|PMID:16728714|PMID:17515463|PMID:17576681|PMID:18159113|PMID:18221724|PMID:18321866|PMID:18356561|PMID:18364108|PMID:18386374|PMID:18503968|PMID:18792970|PMID:19206171|PMID:19223935|PMID:19324947|PMID:19555857|PMID:19844076|PMID:20002458|PMID:20095988|PMID:20096498|PMID:20496075|PMID:20534176|PMID:21070126|PMID:21228398|PMID:21737554|PMID:21801371|PMID:22632830|PMID:22995991|PMID:23139147|PMID:23298310|PMID:23579436|PMID:23592887|PMID:23675998|PMID:24033266|PMID:24591673|PMID:24853021|PMID:24936649|PMID:25187962|PMID:25429696|PMID:25612240|PMID:25640679|PMID:25688877|PMID:25741868|PMID:25917481|PMID:26387786|PMID:26645265|PMID:26699722|PMID:27002414|PMID:27453251|PMID:27630060|PMID:27811071|PMID:27816994|PMID:27884767|PMID:28388887|PMID:28391780|PMID:28492532|PMID:28507310|PMID:29631995|PMID:29650961|PMID:29743074|PMID:29843651|PMID:30029678|PMID:30578397|PMID:30679663|PMID:31727138|PMID:31797984|PMID:32581362|PMID:3291115|PMID:33380512|PMID:9536098 12070215 CIZ1 CDKN1A interacting zinc finger protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1313304 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12070215 CIZ1 CDKN1A interacting zinc finger protein 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1313304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:28492532|PMID:28554332|PMID:34386584 12070215 CIZ1 CDKN1A interacting zinc finger protein 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1313304 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12070215 CIZ1 CDKN1A interacting zinc finger protein 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1313304 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 31B, autosomal recessive | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:10608808|PMID:11031245|PMID:11553700|PMID:18469812|PMID:19084268|PMID:20887364|PMID:22722545|PMID:23977156|PMID:25741868|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26611353|PMID:26865513|PMID:28492532|PMID:28554332|PMID:28667181|PMID:29264391|PMID:29668686|PMID:34172529|PMID:34386584|PMID:8335685 12070215 CIZ1 CDKN1A interacting zinc finger protein 1 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1313304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 12070215 CIZ1 CDKN1A interacting zinc finger protein 1 gene DOID:0090040 torsion dystonia 7 ISO RGD:1313304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22447717 12070215 CIZ1 CDKN1A interacting zinc finger protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1313304 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12070215 CIZ1 CDKN1A interacting zinc finger protein 1 gene DOID:3369 Ewing sarcoma ISO RGD:1313304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17508423 12070215 CIZ1 CDKN1A interacting zinc finger protein 1 gene DOID:543 dystonia ISO RGD:1313304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:16199547|PMID:17576681|PMID:22447717|PMID:25778706|PMID:28492532|PMID:9536098 12070215 CIZ1 CDKN1A interacting zinc finger protein 1 gene DOID:630 genetic disease ISO RGD:1313304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10608808|PMID:11031245|PMID:11553700|PMID:19084268|PMID:23781021|PMID:23977156|PMID:25741868|PMID:26467025|PMID:26611353|PMID:28492532|PMID:28667181|PMID:29668686|PMID:8335685 12070215 CIZ1 CDKN1A interacting zinc finger protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:0050908 myelodysplastic syndrome ISO RGD:1348731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17294728 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:0050908 myelodysplastic syndrome ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:altered methylation: : PMID:20658957|REF_RGD_ID:11251750 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:hypermethylation: : PMID:23683424|REF_RGD_ID:11252195 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:altered methylation:promoter: PMID:17611569|REF_RGD_ID:11252169 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:0060058 lymphoma ISO RGD:1348731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9488045 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:deletion (human) PMID:20118908|REF_RGD_ID:8552306 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:0060318 acute promyelocytic leukemia disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:hyprmethylation:promoter: PMID:12750706|REF_RGD_ID:11252187 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:0080188 chronic myelomonocytic leukemia ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:altered methylation:5'UTR: PMID:12750705|REF_RGD_ID:11252180 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:0081082 acute myelomonocytic leukemia ISO RGD:731792 D RGD:9068941 20200609 RGD PMID:14681685|REF_RGD_ID:11252167 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:10283 prostate cancer disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:16799475|REF_RGD_ID:2289684 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:1037 lymphoid leukemia ISO RGD:731792 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:10602427|REF_RGD_ID:11252194 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:1067 open-angle glaucoma disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:SNP: :rs1063192 (human) PMID:22840486|REF_RGD_ID:8548689 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:deletion PMID:16624482|REF_RGD_ID:7248757 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:deletion:urinary bladder PMID:15590562|REF_RGD_ID:2289696 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:1380 endometrial cancer ISO RGD:2324 D RGD:9068941 20200609 RGD DNA:deletion (rat) PMID:18558284|REF_RGD_ID:2316081 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:1686 glaucoma ISO RGD:1348731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532571 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:1749 squamous cell carcinoma ISO RGD:1348731 D RGD:9068941 20200609 RGD protein:decreased expression:skin PMID:18564286|REF_RGD_ID:8548686 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:2671 transitional cell carcinoma ISO RGD:1348731 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:11720438|REF_RGD_ID:2289697 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:2999 granulosa cell tumor ISO RGD:1348731 D RGD:9068941 20200609 RGD PMID:12203782|REF_RGD_ID:2296066 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:3070 high grade glioma ISO RGD:1348731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578366|PMID:19578367 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:3393 coronary artery disease ISO RGD:1348731 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:23104008|PMID:34961328 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:SNPs: :rs615552, rs573687 (human) PMID:23361049|REF_RGD_ID:7248756 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:11445839|REF_RGD_ID:13673922 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:4450 renal cell carcinoma ISO RGD:2324 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity, deletion PMID:10391689|REF_RGD_ID:7248758 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:5419 schizophrenia ISO RGD:1348731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:630 genetic disease ISO RGD:1348731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:684 hepatocellular carcinoma ISO RGD:1348731 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:6846 familial melanoma ISO RGD:1348731 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532|PMID:9622062 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:8743 erythema infectiosum ISO RGD:1348731 D RGD:9068941 20200609 RGD associated with Leukemia, Myeloid, Acute;DNA:hypermethylation:promoter: PMID:18384396|REF_RGD_ID:11252189 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1348731 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17632454|REF_RGD_ID:2289695 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:9000046 Poisoning ISO RGD:1348731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20044985 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:9000528 Coronary Disease ISO RGD:1348731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Three Vessel Coronary Disease 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:9002762 Ovarian Neoplasms ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA, mRNA:hypermethylation, decreased expression:promoter, ovary PMID:16000597|REF_RGD_ID:2296065 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1348731 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17632454|REF_RGD_ID:2289695 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:9003566 Mesothelioma ISO RGD:2324 D RGD:9068941 20200609 RGD DNA:deletion PMID:20065947|REF_RGD_ID:7248760 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:9005873 Tongue Neoplasms ISO RGD:2324 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity PMID:16527513|REF_RGD_ID:1578522 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:9007188 Liver Neoplasms ISO RGD:1348731 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:9007715 Endometrial Neoplasms ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:SNPs: :rs615552, rs573687 (human) PMID:23361049|REF_RGD_ID:7248756 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:9119 acute myeloid leukemia ISO RGD:1348731 D RGD:9068941 20200609 RGD mRNA:decreased expression:granulocyte,monocyte: PMID:9001419|REF_RGD_ID:11252196 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:9119 acute myeloid leukemia ISO RGD:731792 D RGD:9068941 20200609 RGD PMID:14681685|REF_RGD_ID:11252167 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:11064355|REF_RGD_ID:11251749 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:15863205|REF_RGD_ID:11252161 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:hypermethylation: : PMID:25616284|REF_RGD_ID:11251739 12070267 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:27168825|REF_RGD_ID:11252164 12070277 PRDM1 PR/SET domain 1 gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:1323391 D RGD:9068941 20211210 RGD PMID:22321048|REF_RGD_ID:150530470 12070277 PRDM1 PR/SET domain 1 gene DOID:0080600 COVID-19 ISO RGD:1323391 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12070277 PRDM1 PR/SET domain 1 gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma disease_progression ISO RGD:1323391 D RGD:9068941 20211210 RGD PMID:24438193|REF_RGD_ID:150530467 12070277 PRDM1 PR/SET domain 1 gene DOID:12894 Sjogren's syndrome ISO RGD:1323391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 12070277 PRDM1 PR/SET domain 1 gene DOID:1324 lung cancer disease_progression ISO RGD:1323391 D RGD:9068941 20211210 RGD PMID:28378641|REF_RGD_ID:150530469 12070277 PRDM1 PR/SET domain 1 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1323391 D RGD:9068941 20211210 RGD PMID:28378641|REF_RGD_ID:150530469 12070277 PRDM1 PR/SET domain 1 gene DOID:630 genetic disease ISO RGD:1323391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070277 PRDM1 PR/SET domain 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1323391 D RGD:9068941 20211210 RGD associated with hepatitis B; PMID:31100710|REF_RGD_ID:150530465 12070277 PRDM1 PR/SET domain 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1323391 D RGD:9068941 20211210 RGD associated with hepatitis B;DNA:SNP: :rs1010273(human) PMID:31376415|REF_RGD_ID:150530466 12070277 PRDM1 PR/SET domain 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1323391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19898481|PMID:20453842|PMID:23143596 12070277 PRDM1 PR/SET domain 1 gene DOID:8577 ulcerative colitis ISO RGD:1323391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 12070277 PRDM1 PR/SET domain 1 gene DOID:9004610 Acute Lung Injury ISO RGD:1323391 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:33109608 12070277 PRDM1 PR/SET domain 1 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:1323391 D RGD:9068941 20211210 RGD PMID:31100710|REF_RGD_ID:150530465 12070277 PRDM1 PR/SET domain 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1323391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838195 12070277 PRDM1 PR/SET domain 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1323392 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12070277 PRDM1 PR/SET domain 1 gene DOID:9256 colorectal cancer ISO RGD:1323391 D RGD:9068941 20211210 RGD mRNA:increased expression:colorectum: PMID:32393998|REF_RGD_ID:150530478 12070297 OR5A2 olfactory receptor family 5 subfamily A member 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1349600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12070297 OR5A2 olfactory receptor family 5 subfamily A member 2 gene DOID:1059 intellectual disability ISO RGD:1349600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12070297 OR5A2 olfactory receptor family 5 subfamily A member 2 gene DOID:630 genetic disease ISO RGD:1349600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070303 CDC42BPG CDC42 binding protein kinase gamma gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12070303 CDC42BPG CDC42 binding protein kinase gamma gene DOID:1059 intellectual disability ISO RGD:1350948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12070303 CDC42BPG CDC42 binding protein kinase gamma gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1350948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12070303 CDC42BPG CDC42 binding protein kinase gamma gene DOID:2746 glycogen storage disease V ISO RGD:1350948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12070303 CDC42BPG CDC42 binding protein kinase gamma gene DOID:3070 high grade glioma ISO RGD:1350948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12070303 CDC42BPG CDC42 binding protein kinase gamma gene DOID:630 genetic disease ISO RGD:1350948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070351 TMC1 transmembrane channel like 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:1318596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:18616530|PMID:19187973|PMID:21917145|PMID:24033266 12070351 TMC1 transmembrane channel like 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:1318596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness PMID:26969326|PMID:29654653|PMID:34416374 12070351 TMC1 transmembrane channel like 1 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1318596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:11850618|PMID:16134132|PMID:17877751|PMID:18414213|PMID:19187973|PMID:20373850|PMID:22105175|PMID:24033266|PMID:24416283|PMID:24949729|PMID:25491636|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30303587|PMID:31854501|PMID:32747562 12070351 TMC1 transmembrane channel like 1 gene DOID:0110520 autosomal recessive nonsyndromic deafness 7 ISO RGD:1318596 D RGD:7240710 20180130 OMIM 12070351 TMC1 transmembrane channel like 1 gene DOID:0110520 autosomal recessive nonsyndromic deafness 7 ISO RGD:1318596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 | ClinVar Annotator: match by term: Deafness, autosomal recessive 7 PMID:11850618|PMID:16134132|PMID:16199547|PMID:17576681|PMID:17877751|PMID:18414213|PMID:18616530|PMID:19187973|PMID:20373850|PMID:21250555|PMID:21252500|PMID:21917145|PMID:22105175|PMID:22607986|PMID:23208854|PMID:23767834|PMID:24033266|PMID:24416283|PMID:24875298|PMID:24949729|PMID:25491636|PMID:25741868|PMID:26467025|PMID:26969326|PMID:27068579|PMID:28492532|PMID:29654653|PMID:30303587|PMID:31028865|PMID:31541171|PMID:31854501|PMID:32747562|PMID:33724713|PMID:34416374|PMID:9536098 12070351 TMC1 transmembrane channel like 1 gene DOID:0110563 autosomal dominant nonsyndromic deafness 36 ISO RGD:1318596 D RGD:7240710 20180130 OMIM 12070351 TMC1 transmembrane channel like 1 gene DOID:0110563 autosomal dominant nonsyndromic deafness 36 ISO RGD:1318596 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 36 PMID:11850618|PMID:15354000|PMID:16134132|PMID:16199547|PMID:16287143|PMID:17250663|PMID:17576681|PMID:18616530|PMID:19180119|PMID:19187973|PMID:21250555|PMID:21252500|PMID:22105175|PMID:22607986|PMID:23208854|PMID:23767834|PMID:24033266|PMID:24416283|PMID:24827932|PMID:25388789|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28501645|PMID:30303587|PMID:31028865|PMID:31541171|PMID:33168709|PMID:33524517|PMID:33724713|PMID:34523024|PMID:9536098 12070351 TMC1 transmembrane channel like 1 gene DOID:0110909 inflammatory bowel disease 25 ISO RGD:1318596 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 25 PMID:25741868|PMID:26011067|PMID:28492532 12070351 TMC1 transmembrane channel like 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1318596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment 12070351 TMC1 transmembrane channel like 1 gene DOID:630 genetic disease ISO RGD:1318596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:26467025|PMID:28492532 12070351 TMC1 transmembrane channel like 1 gene DOID:9004538 Hearing Loss ISO RGD:1318596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:16134132|PMID:16287143|PMID:23767834|PMID:25741868|PMID:28492532|PMID:28501645|PMID:30311386|PMID:33524517 12070351 TMC1 transmembrane channel like 1 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1318596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:17576681|PMID:21252500|PMID:23208854|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 12070351 TMC1 transmembrane channel like 1 gene DOID:9008681 Deafness ISO RGD:1318596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 12070374 ZSWIM4 zinc finger SWIM-type containing 4 gene DOID:630 genetic disease ISO RGD:1345804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070396 IER2 immediate early response 2 gene DOID:0050858 Marshall-Smith syndrome ISO RGD:1343257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome PMID:20673863|PMID:23495138|PMID:25118028|PMID:25736188|PMID:26927468|PMID:27688808|PMID:28492532|PMID:29184170 12070396 IER2 immediate early response 2 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1343257 D RGD:9068941 20220818 RGD protein:increased expression:colon (human) PMID:22120713|REF_RGD_ID:153323322 12070396 IER2 immediate early response 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1343257 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532|PMID:29184170 12070396 IER2 immediate early response 2 gene DOID:0070323 childhood acute myeloid leukemia ISO RGD:1343257 D RGD:9068941 20220818 RGD mRNA:increased expression:bone marrow (human) PMID:34702297|REF_RGD_ID:153323323 12070396 IER2 immediate early response 2 gene DOID:0080600 COVID-19 ISO RGD:1343257 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12070396 IER2 immediate early response 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1343257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12070396 IER2 immediate early response 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1343257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12070396 IER2 immediate early response 2 gene DOID:1909 melanoma disease_progression ISO RGD:1343257 D RGD:9068941 20220818 RGD mRNA:increased expression:skin (human) PMID:34611309|REF_RGD_ID:153323325 12070396 IER2 immediate early response 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1343257 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12070396 IER2 immediate early response 2 gene DOID:630 genetic disease ISO RGD:1343257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070396 IER2 immediate early response 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1343257 D RGD:9068941 20220818 RGD mRNA, protein:decreased expression:liver (human) PMID:32009420|REF_RGD_ID:153323326 12070396 IER2 immediate early response 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1359581 D RGD:9068941 20220818 RGD PMID:22120713|REF_RGD_ID:153323322 12070396 IER2 immediate early response 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1343257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12070396 IER2 immediate early response 2 gene DOID:9256 colorectal cancer ISO RGD:1343257 D RGD:9068941 20220818 RGD DNA:hypomethylation:promoter (human) PMID:34311674|REF_RGD_ID:153323328 12070401 SLC35G2 solute carrier family 35 member G2 gene DOID:1909 melanoma ISO RGD:1314532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 12070401 SLC35G2 solute carrier family 35 member G2 gene DOID:630 genetic disease ISO RGD:1314532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070401 SLC35G2 solute carrier family 35 member G2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1314532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12070410 PPP1R16B protein phosphatase 1 regulatory subunit 16B gene DOID:2234 focal epilepsy ISO RGD:1322272 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12070410 PPP1R16B protein phosphatase 1 regulatory subunit 16B gene DOID:630 genetic disease ISO RGD:1322272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070431 NAA25 N-alpha-acetyltransferase 25, NatB auxiliary subunit gene DOID:630 genetic disease ISO RGD:1605042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070459 RERGL RERG like gene DOID:10283 prostate cancer ISO RGD:1602860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12070459 RERGL RERG like gene DOID:630 genetic disease ISO RGD:1602860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070468 CASP7 caspase 7 gene DOID:0060186 chemical colitis treatment ISO RGD:1553182 D RGD:9068941 20200609 RGD PMID:28740344|REF_RGD_ID:13782278 12070468 CASP7 caspase 7 gene DOID:1002 endometritis treatment ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:26920733|REF_RGD_ID:13782281 12070468 CASP7 caspase 7 gene DOID:10584 retinitis pigmentosa ISO RGD:1553182 D RGD:9068941 20200609 RGD PMID:23470535|REF_RGD_ID:8548491 12070468 CASP7 caspase 7 gene DOID:10652 Alzheimer's disease ISO RGD:1298347 D RGD:9068941 20200609 RGD PMID:12633148|REF_RGD_ID:13782269 12070468 CASP7 caspase 7 gene DOID:10652 Alzheimer's disease ISO RGD:1298347 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype PMID:26621834|REF_RGD_ID:11344490 12070468 CASP7 caspase 7 gene DOID:11446 sciatic neuropathy ISO RGD:620944 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion PMID:29659443|REF_RGD_ID:13782273 12070468 CASP7 caspase 7 gene DOID:12306 vitiligo ISO RGD:1298347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 12070468 CASP7 caspase 7 gene DOID:1612 breast cancer disease_progression ISO RGD:1298347 D RGD:9068941 20200609 RGD PMID:23979166|REF_RGD_ID:13209143 12070468 CASP7 caspase 7 gene DOID:219 colon cancer disease_progression ISO RGD:1298347 D RGD:9068941 20200609 RGD PMID:23979166|REF_RGD_ID:13209143 12070468 CASP7 caspase 7 gene DOID:224 transient cerebral ischemia treatment ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:25872160|REF_RGD_ID:13782285 12070468 CASP7 caspase 7 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1298347 D RGD:9068941 20200609 RGD DNA:SNP: :rs2227310 (human) PMID:20661084|REF_RGD_ID:13434908 12070468 CASP7 caspase 7 gene DOID:5199 ureteral obstruction treatment ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:29781318|REF_RGD_ID:13782341 12070468 CASP7 caspase 7 gene DOID:630 genetic disease ISO RGD:1298347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070468 CASP7 caspase 7 gene DOID:7148 rheumatoid arthritis ISO RGD:1298347 D RGD:9068941 20200609 RGD PMID:18785314|REF_RGD_ID:5684540 12070468 CASP7 caspase 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1298347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12070468 CASP7 caspase 7 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:20702827|REF_RGD_ID:5684535 12070468 CASP7 caspase 7 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1298347 D RGD:9068941 20200609 RGD PMID:17646170|REF_RGD_ID:5684537 12070468 CASP7 caspase 7 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:620944 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:28456626|REF_RGD_ID:13782304 12070468 CASP7 caspase 7 gene DOID:9004332 Osteoarthritis, Experimental treatment ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:29621761|REF_RGD_ID:13782275 12070468 CASP7 caspase 7 gene DOID:9005172 Lung Neoplasms disease_progression ISO RGD:1298347 D RGD:9068941 20200609 RGD PMID:23979166|REF_RGD_ID:13209143 12070468 CASP7 caspase 7 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:1298347 D RGD:9068941 20200609 RGD PMID:23979166|REF_RGD_ID:13209143 12070468 CASP7 caspase 7 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:23404339|PMID:26699876|REF_RGD_ID:10053670|REF_RGD_ID:13782283 12070468 CASP7 caspase 7 gene DOID:9005930 Endotoxemia ISO RGD:1553182 D RGD:9068941 20200609 RGD PMID:19168786|REF_RGD_ID:5684539 12070468 CASP7 caspase 7 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:17596683|REF_RGD_ID:5684536 12070468 CASP7 caspase 7 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1298347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14998631 12070468 CASP7 caspase 7 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:29538428|REF_RGD_ID:13782276 12070468 CASP7 caspase 7 gene DOID:9008939 Breast Neoplasms ISO RGD:1298347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16583263 12070468 CASP7 caspase 7 gene DOID:9119 acute myeloid leukemia ISO RGD:1298347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12070468 CASP7 caspase 7 gene DOID:9352 type 2 diabetes mellitus ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:23032698|REF_RGD_ID:10053698 12070468 CASP7 caspase 7 gene DOID:9408 acute myocardial infarction treatment ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:26550220|REF_RGD_ID:13782284 12070481 CHODL chondrolectin gene DOID:10652 Alzheimer's disease ISO RGD:1320469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 12070481 CHODL chondrolectin gene DOID:630 genetic disease ISO RGD:1320469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070481 CHODL chondrolectin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12070501 ZBTB11 zinc finger and BTB domain containing 11 gene DOID:0081230 autosomal recessive intellectual developmental disorder 69 ISO RGD:1317955 D RGD:7240710 20190424 OMIM 12070501 ZBTB11 zinc finger and BTB domain containing 11 gene DOID:0081230 autosomal recessive intellectual developmental disorder 69 ISO RGD:1317955 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 69 PMID:25741868|PMID:29893856|PMID:35104841|PMID:7586637 12070501 ZBTB11 zinc finger and BTB domain containing 11 gene DOID:630 genetic disease ISO RGD:1317955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070501 ZBTB11 zinc finger and BTB domain containing 11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12070519 SLC29A3 solute carrier family 29 member 3 gene DOID:0111278 histiocytosis-lymphadenopathy plus syndrome ISO RGD:1351725 D RGD:7240710 20180130 OMIM 12070519 SLC29A3 solute carrier family 29 member 3 gene DOID:0111278 histiocytosis-lymphadenopathy plus syndrome ISO RGD:1351725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: H syndrome PMID:16118898|PMID:16155931|PMID:16199547|PMID:16650224|PMID:17461801|PMID:17576681|PMID:18414213|PMID:18940313|PMID:18947330|PMID:19175903|PMID:19336477|PMID:19889517|PMID:20140240|PMID:20199539|PMID:20595384|PMID:20619369|PMID:21178579|PMID:21888995|PMID:22238637|PMID:22653152|PMID:22679148|PMID:22875837|PMID:23406517|PMID:23530176|PMID:23789599|PMID:24172204|PMID:24894595|PMID:25741868|PMID:25963354|PMID:25967258|PMID:26074390|PMID:27143505|PMID:27215564|PMID:27364927|PMID:28492532|PMID:28554179|PMID:29041934|PMID:29751792|PMID:29808591|PMID:30537558|PMID:30783801|PMID:31276222|PMID:31464584|PMID:33837634|PMID:33947670|PMID:9536098|PMID:9545394 12070519 SLC29A3 solute carrier family 29 member 3 gene DOID:1682 congenital heart disease ISO RGD:1351725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20140240 12070519 SLC29A3 solute carrier family 29 member 3 gene DOID:1924 hypogonadism ISO RGD:1351725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20140240 12070519 SLC29A3 solute carrier family 29 member 3 gene DOID:3138 acanthosis nigricans ISO RGD:1351725 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acanthosis nigricans PMID:25741868|PMID:28492532|PMID:29751792|PMID:31464584 12070519 SLC29A3 solute carrier family 29 member 3 gene DOID:3405 histiocytosis ISO RGD:1351725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22238637 12070519 SLC29A3 solute carrier family 29 member 3 gene DOID:420 hypertrichosis ISO RGD:1351725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19336477|PMID:20140240 12070519 SLC29A3 solute carrier family 29 member 3 gene DOID:630 genetic disease ISO RGD:1351725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12070519 SLC29A3 solute carrier family 29 member 3 gene DOID:9000755 Asrar Facharzt Haque Syndrome ISO RGD:1351725 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Asrar Facharzt Haque syndrome PMID:25741868|PMID:28492532|PMID:29751792|PMID:31464584 12070519 SLC29A3 solute carrier family 29 member 3 gene DOID:9001904 Sinus Histiocytosis ISO RGD:1351725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20140240 12070519 SLC29A3 solute carrier family 29 member 3 gene DOID:9003984 Hyperpigmentation ISO RGD:1351725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19336477|PMID:20140240 12070519 SLC29A3 solute carrier family 29 member 3 gene DOID:9004538 Hearing Loss ISO RGD:1351725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20140240 12070519 SLC29A3 solute carrier family 29 member 3 gene DOID:9005369 Hepatomegaly ISO RGD:1351725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20140240 12070519 SLC29A3 solute carrier family 29 member 3 gene DOID:9006667 Dysosteosclerosis ISO RGD:1351725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysosteosclerosis PMID:28492532|PMID:33837634 12070519 SLC29A3 solute carrier family 29 member 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1351725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19336477|PMID:20140240 12070532 POGLUT3 protein O-glucosyltransferase 3 gene DOID:1059 intellectual disability ISO RGD:1347684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12070532 POGLUT3 protein O-glucosyltransferase 3 gene DOID:12704 ataxia telangiectasia ISO RGD:1347684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12070532 POGLUT3 protein O-glucosyltransferase 3 gene DOID:14723 beta-ketothiolase deficiency ISO RGD:1347684 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:28492532 12070532 POGLUT3 protein O-glucosyltransferase 3 gene DOID:630 genetic disease ISO RGD:1347684 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070532 POGLUT3 protein O-glucosyltransferase 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1347684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12070545 LOC490996 keratin-associated protein 4-6 gene DOID:630 genetic disease ISO RGD:1346065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070553 KAT7 lysine acetyltransferase 7 gene DOID:10283 prostate cancer ISO RGD:737003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12070553 KAT7 lysine acetyltransferase 7 gene DOID:1612 breast cancer severity ISO RGD:737003 D RGD:9068941 20200609 RGD protein:increased expression:breast (human) PMID:21040551|REF_RGD_ID:9681004 12070553 KAT7 lysine acetyltransferase 7 gene DOID:4674 androgen insensitivity syndrome ISO RGD:737003 D RGD:9068941 20200609 RGD protein:decreased expression:testes (human) PMID:23707616|REF_RGD_ID:9681005 12070553 KAT7 lysine acetyltransferase 7 gene DOID:630 genetic disease ISO RGD:737003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070577 ADGRG2 adhesion G protein-coupled receptor G2 gene DOID:0060599 Nance-Horan syndrome ISO RGD:735317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12070577 ADGRG2 adhesion G protein-coupled receptor G2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12070577 ADGRG2 adhesion G protein-coupled receptor G2 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:735317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12070577 ADGRG2 adhesion G protein-coupled receptor G2 gene DOID:0111042 glycogen storage disease IXa ISO RGD:735317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12070577 ADGRG2 adhesion G protein-coupled receptor G2 gene DOID:0111862 congenital bilateral absence of vas deferens ISO RGD:735317 D RGD:9068941 20200619 CTD CTD Direct Evidence: marker/mechanism 12070577 ADGRG2 adhesion G protein-coupled receptor G2 gene DOID:0111863 X-linked congenital bilateral absence of vas deferens ISO RGD:735317 D RGD:7240710 20200619 OMIM 12070577 ADGRG2 adhesion G protein-coupled receptor G2 gene DOID:0111863 X-linked congenital bilateral absence of vas deferens ISO RGD:735317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vas deferens, congenital bilateral aplasia of, X-linked PMID:25741868|PMID:27476656 12070577 ADGRG2 adhesion G protein-coupled receptor G2 gene DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ISO RGD:735317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation PMID:25741868|PMID:27476656 12070577 ADGRG2 adhesion G protein-coupled receptor G2 gene DOID:12849 autistic disorder ISO RGD:735317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12070577 ADGRG2 adhesion G protein-coupled receptor G2 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:735317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12070577 ADGRG2 adhesion G protein-coupled receptor G2 gene DOID:630 genetic disease ISO RGD:735317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070577 ADGRG2 adhesion G protein-coupled receptor G2 gene DOID:8398 osteoarthritis ISO RGD:735317 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 12070577 ADGRG2 adhesion G protein-coupled receptor G2 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:735317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:17172462|PMID:20591708|PMID:21914562|PMID:22473288|PMID:28492532|PMID:9618178 12070577 ADGRG2 adhesion G protein-coupled receptor G2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12070611 CHRAC1 chromatin accessibility complex subunit 1 gene DOID:630 genetic disease ISO RGD:1319606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070621 SLC24A3 solute carrier family 24 member 3 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:735914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12070621 SLC24A3 solute carrier family 24 member 3 gene DOID:630 genetic disease ISO RGD:735914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070621 SLC24A3 solute carrier family 24 member 3 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:735914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12070652 IL7R interleukin 7 receptor gene DOID:0080600 COVID-19 ISO RGD:1320295 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12070652 IL7R interleukin 7 receptor gene DOID:0080915 histiocytic sarcoma ISO RGD:1320295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Histiocytic medullary reticulosis PMID:21664875|PMID:25741868|PMID:26123418|PMID:28492532 12070652 IL7R interleukin 7 receptor gene DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ISO RGD:1320295 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism 12070652 IL7R interleukin 7 receptor gene DOID:10534 stomach cancer susceptibility ISO RGD:1320295 D RGD:9068941 20220204 RGD DNA:SNPs,haplotype:IVS,exon:1560 G>A (rs1389832),33 A>G(rs1494555), 1472 A>C (rs1494556)(human) PMID:18687755|REF_RGD_ID:151347690 12070652 IL7R interleukin 7 receptor gene DOID:12236 primary biliary cholangitis ISO RGD:1320295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 12070652 IL7R interleukin 7 receptor gene DOID:219 colon cancer disease_progression ISO RGD:1320295 D RGD:9068941 20220204 RGD DNA:deletion: : PMID:29755661|REF_RGD_ID:126779581 12070652 IL7R interleukin 7 receptor gene DOID:2377 multiple sclerosis ISO RGD:1320295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to, 3 PMID:21664875|PMID:24759676|PMID:25046553|PMID:25741868|PMID:26123418|PMID:27577878|PMID:28436970|PMID:28492532|PMID:32576985|PMID:32765500 12070652 IL7R interleukin 7 receptor gene DOID:289 endometriosis ISO RGD:1320295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12070652 IL7R interleukin 7 receptor gene DOID:3525 middle cerebral artery infarction ISO RGD:1309776 D RGD:9068941 20220204 RGD protein:increased expression:brain: PMID:30676545|REF_RGD_ID:151347693 12070652 IL7R interleukin 7 receptor gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1320295 D RGD:9068941 20220204 RGD PMID:21159243|REF_RGD_ID:151347686 12070652 IL7R interleukin 7 receptor gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1320295 D RGD:9068941 20220204 RGD DNA:SNPs:: rs1494555,rs7737000(human) PMID:19505916|REF_RGD_ID:4142793 12070652 IL7R interleukin 7 receptor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1320295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892159 12070652 IL7R interleukin 7 receptor gene DOID:627 severe combined immunodeficiency ISO RGD:1320295 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:15661025|PMID:16492442|PMID:17827065|PMID:18255337|PMID:18403192|PMID:18641513|PMID:21664875|PMID:23810098|PMID:24759676|PMID:25046553|PMID:25741868|PMID:26123418|PMID:27577878|PMID:27833609|PMID:28436970|PMID:28492532|PMID:30778343|PMID:32576985|PMID:32765500|PMID:33084842 12070652 IL7R interleukin 7 receptor gene DOID:630 genetic disease ISO RGD:1320295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12070652 IL7R interleukin 7 receptor gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:1320295 D RGD:9068941 20220204 RGD PMID:26155428|REF_RGD_ID:151347688 12070652 IL7R interleukin 7 receptor gene DOID:8577 ulcerative colitis ISO RGD:1320295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 12070652 IL7R interleukin 7 receptor gene DOID:9000795 Immunodeficiency 104 ISO RGD:1320295 D RGD:7240710 20220706 OMIM 12070652 IL7R interleukin 7 receptor gene DOID:9000795 Immunodeficiency 104 ISO RGD:1320295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 104 PMID:10899029|PMID:11023514|PMID:15615257|PMID:15661025|PMID:16199547|PMID:16492442|PMID:17201233|PMID:17576681|PMID:17827065|PMID:18255337|PMID:18403192|PMID:18641513|PMID:20021794|PMID:21664875|PMID:23810098|PMID:24033266|PMID:24578017|PMID:24728327|PMID:24759676|PMID:25046553|PMID:25741868|PMID:26123418|PMID:27577878|PMID:27807805|PMID:27833609|PMID:28436970|PMID:28492532|PMID:28747913|PMID:29551298|PMID:30290665|PMID:30778343|PMID:30858051|PMID:31031743|PMID:32576985|PMID:32765500|PMID:32888943|PMID:35418989|PMID:9536098|PMID:9843216 12070652 IL7R interleukin 7 receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12070652 IL7R interleukin 7 receptor gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:1320295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features PMID:22897847|PMID:22955920 12070652 IL7R interleukin 7 receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12070652 IL7R interleukin 7 receptor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1320295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892159 12070652 IL7R interleukin 7 receptor gene DOID:9008939 Breast Neoplasms ISO RGD:1320295 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast neoplasm 12070652 IL7R interleukin 7 receptor gene DOID:9538 multiple myeloma ISO RGD:1320295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12070671 PCDH18 protocadherin 18 gene DOID:630 genetic disease ISO RGD:1314160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070682 CELF3 CUGBP Elav-like family member 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1319873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12070682 CELF3 CUGBP Elav-like family member 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1319873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12070682 CELF3 CUGBP Elav-like family member 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1319873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12070682 CELF3 CUGBP Elav-like family member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1319873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12070682 CELF3 CUGBP Elav-like family member 3 gene DOID:5812 MHC class II deficiency ISO RGD:1319873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12070682 CELF3 CUGBP Elav-like family member 3 gene DOID:630 genetic disease ISO RGD:1319873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070682 CELF3 CUGBP Elav-like family member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12070703 SLC52A3 solute carrier family 52 member 3 gene DOID:0050694 Brown-Vialetto-Van Laere syndrome ISO RGD:1312203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12070703 SLC52A3 solute carrier family 52 member 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1312203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28220687 12070703 SLC52A3 solute carrier family 52 member 3 gene DOID:0080632 Fazio-Londe disease ISO RGD:1312203 D RGD:7240710 20200311 OMIM 12070703 SLC52A3 solute carrier family 52 member 3 gene DOID:0080632 Fazio-Londe disease ISO RGD:1312203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive bulbar palsy of childhood PMID:20206331|PMID:20920669|PMID:21110228|PMID:22273710|PMID:22718020|PMID:22824638|PMID:23688382|PMID:24033266|PMID:25462087|PMID:25741868|PMID:26072523|PMID:27702554|PMID:28492532|PMID:29053833|PMID:29501408|PMID:29950502|PMID:33189404|PMID:33325104|PMID:34426522|PMID:34662687 12070703 SLC52A3 solute carrier family 52 member 3 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1312203 D RGD:7240710 20190320 OMIM 12070703 SLC52A3 solute carrier family 52 member 3 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1312203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:16122634|PMID:16199547|PMID:17576681|PMID:2020633|PMID:20206331|PMID:20920669|PMID:21110228|PMID:21512156|PMID:22273710|PMID:22633641|PMID:22718020|PMID:22740598|PMID:22824638|PMID:23107375|PMID:23688382|PMID:24033266|PMID:24239381|PMID:25462087|PMID:25741868|PMID:26072523|PMID:26443808|PMID:27702554|PMID:27777325|PMID:28251916|PMID:28492532|PMID:28856173|PMID:29053833|PMID:29501408|PMID:29950502|PMID:29961494|PMID:32579787|PMID:33189404|PMID:33325104|PMID:34395718|PMID:34426522|PMID:34662687|PMID:9536098 12070703 SLC52A3 solute carrier family 52 member 3 gene DOID:231 motor neuron disease ISO RGD:1312203 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Madras motor neuron disease PMID:25741868|PMID:28492532|PMID:32579787 12070703 SLC52A3 solute carrier family 52 member 3 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1312203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20729853 12070703 SLC52A3 solute carrier family 52 member 3 gene DOID:630 genetic disease ISO RGD:1312203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20206331|PMID:20920669|PMID:21110228|PMID:21512156|PMID:22718020|PMID:22740598|PMID:22824638|PMID:23688382|PMID:24033266|PMID:25462087|PMID:25741868|PMID:26072523|PMID:27702554|PMID:27777325|PMID:28251916|PMID:28492532|PMID:28856173|PMID:29053833|PMID:29501408|PMID:29961494|PMID:32579787|PMID:33189404|PMID:33325104|PMID:34395718|PMID:34426522|PMID:34662687 12070703 SLC52A3 solute carrier family 52 member 3 gene DOID:681 progressive bulbar palsy ISO RGD:1312203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12070703 SLC52A3 solute carrier family 52 member 3 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:1312203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532 12070819 CD58 CD58 molecule gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1343400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413734 12070819 CD58 CD58 molecule gene DOID:2377 multiple sclerosis ISO RGD:1343400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19525955|PMID:24076602 12070819 CD58 CD58 molecule gene DOID:630 genetic disease ISO RGD:1343400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070852 CAPN6 calpain 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:734276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12070852 CAPN6 calpain 6 gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:734276 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 PMID:28492532 12070852 CAPN6 calpain 6 gene DOID:10283 prostate cancer ISO RGD:734276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12070852 CAPN6 calpain 6 gene DOID:12849 autistic disorder ISO RGD:734276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12070852 CAPN6 calpain 6 gene DOID:5419 schizophrenia ISO RGD:734276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12070852 CAPN6 calpain 6 gene DOID:630 genetic disease ISO RGD:734276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070872 TMEM135 transmembrane protein 135 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1603382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 12070872 TMEM135 transmembrane protein 135 gene DOID:1059 intellectual disability ISO RGD:1603382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12070872 TMEM135 transmembrane protein 135 gene DOID:3068 glioblastoma ISO RGD:1603382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12070872 TMEM135 transmembrane protein 135 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1603382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12070872 TMEM135 transmembrane protein 135 gene DOID:630 genetic disease ISO RGD:1603382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070891 GSC goosecoid homeobox gene DOID:0081063 DICER1 syndrome ISO RGD:736937 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 12070891 GSC goosecoid homeobox gene DOID:630 genetic disease ISO RGD:736937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070891 GSC goosecoid homeobox gene DOID:9007856 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities ISO RGD:736937 D RGD:7240710 20180130 OMIM 12070891 GSC goosecoid homeobox gene DOID:9007856 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities ISO RGD:736937 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities PMID:24290375|PMID:25741868|PMID:28492532|PMID:9475592 12070891 GSC goosecoid homeobox gene DOID:9008731 Craniofacial Abnormalities ISO RGD:736937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10433910 12070912 GHR growth hormone receptor gene DOID:0050328 congenital hypothyroidism treatment ISO RGD:2687 D RGD:9068941 20200609 RGD PMID:21162131|REF_RGD_ID:10003146 12070912 GHR growth hormone receptor gene DOID:0060870 isolated growth hormone deficiency ISO RGD:69149 D RGD:9068941 20200609 RGD Laron syndrome,OMIM:262500;DNA:deletion PMID:2813379|REF_RGD_ID:1601315 12070912 GHR growth hormone receptor gene DOID:11476 osteoporosis ISO RGD:2687 D RGD:9068941 20200609 RGD associated with Cholestasis PMID:19424739|REF_RGD_ID:10003131 12070912 GHR growth hormone receptor gene DOID:11476 osteoporosis treatment ISO RGD:2687 D RGD:9068941 20200609 RGD associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast PMID:17647196|REF_RGD_ID:10003128 12070912 GHR growth hormone receptor gene DOID:12849 autistic disorder ISO RGD:69149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17547689 12070912 GHR growth hormone receptor gene DOID:13533 osteopetrosis ISO RGD:2687 D RGD:9068941 20200609 RGD protein:decreased expression:osteoclast PMID:14632687|REF_RGD_ID:2307374 12070912 GHR growth hormone receptor gene DOID:13580 cholestasis ISO RGD:10644 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver, skeletal muscle: PMID:15604202|REF_RGD_ID:11567216 12070912 GHR growth hormone receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:69149 D RGD:7240710 20180130 OMIM 12070912 GHR growth hormone receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:69149 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:12910492|PMID:17462934|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7565946|PMID:8504296 12070912 GHR growth hormone receptor gene DOID:1612 breast cancer ISO RGD:69149 D RGD:9068941 20200609 RGD protein:increased expression:serum:cases versus controls (p<0.01) PMID:17287408|REF_RGD_ID:2301716 12070912 GHR growth hormone receptor gene DOID:1826 epilepsy ISO RGD:69149 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizures PMID:10984309|PMID:25741868|PMID:28492532 12070912 GHR growth hormone receptor gene DOID:2962 Cockayne syndrome ISO RGD:10644 D RGD:9068941 20200609 RGD PMID:17326724|REF_RGD_ID:10003139 12070912 GHR growth hormone receptor gene DOID:5353 colonic disease ISO RGD:69149 D RGD:9068941 20200609 RGD associated with Acromegaly;DNA:deletion:exon PMID:19864451|REF_RGD_ID:10003142 12070912 GHR growth hormone receptor gene DOID:630 genetic disease ISO RGD:69149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12070912 GHR growth hormone receptor gene DOID:684 hepatocellular carcinoma ISO RGD:69149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12070912 GHR growth hormone receptor gene DOID:767 muscular atrophy ISO RGD:2687 D RGD:9068941 20200609 RGD mRNA:increased expression:soleus PMID:12865352|REF_RGD_ID:2307376 12070912 GHR growth hormone receptor gene DOID:767 muscular atrophy ISO RGD:2687 D RGD:9068941 20220224 RGD associated with microgravity; mRNA:increased expression:gastrocnemius (rat) PMID:14638460|REF_RGD_ID:151361116 12070912 GHR growth hormone receptor gene DOID:8398 osteoarthritis ISO RGD:69149 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:23740230|REF_RGD_ID:10003113 12070912 GHR growth hormone receptor gene DOID:8927 learning disability ISO RGD:69149 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:10984309|PMID:25741868|PMID:28492532 12070912 GHR growth hormone receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2687 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:12679928|REF_RGD_ID:2307378 12070912 GHR growth hormone receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 12070912 GHR growth hormone receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:10644 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:10541297|REF_RGD_ID:2307370 12070912 GHR growth hormone receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:2687 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:15066219|REF_RGD_ID:2307364 12070912 GHR growth hormone receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:2687 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney PMID:10990443|REF_RGD_ID:2307368 12070912 GHR growth hormone receptor gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:10644 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:10614635|REF_RGD_ID:2307369 12070912 GHR growth hormone receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:69149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17220348 12070912 GHR growth hormone receptor gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2687 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19524466|REF_RGD_ID:2315620 12070912 GHR growth hormone receptor gene DOID:9004271 Colonic Polyps ISO RGD:69149 D RGD:9068941 20200609 RGD associated with Acromegaly;DNA:deletion:exon PMID:19864451|REF_RGD_ID:10003142 12070912 GHR growth hormone receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12070912 GHR growth hormone receptor gene DOID:9004484 Sepsis ISO RGD:2687 D RGD:9068941 20200609 RGD PMID:11126270|REF_RGD_ID:2307382 12070912 GHR growth hormone receptor gene DOID:9004552 Genu Varum ISO RGD:69149 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Genu varum PMID:10984309|PMID:25741868|PMID:28492532 12070912 GHR growth hormone receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:69149 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia PMID:12910492|PMID:17462934|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7565946|PMID:8504296 12070912 GHR growth hormone receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10644 D RGD:9068941 20200609 RGD PMID:12529387|REF_RGD_ID:2307365 12070912 GHR growth hormone receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2687 D RGD:9068941 20200609 RGD PMID:7964296|REF_RGD_ID:11567222 12070912 GHR growth hormone receptor gene DOID:9005930 Endotoxemia ISO RGD:2687 D RGD:9068941 20200609 RGD PMID:12217886|REF_RGD_ID:625688 12070912 GHR growth hormone receptor gene DOID:9005930 Endotoxemia ISO RGD:2687 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:12654216|REF_RGD_ID:2307380 12070912 GHR growth hormone receptor gene DOID:9006041 Osteoarthritis, Hip ISO RGD:69149 D RGD:9068941 20200609 RGD associated with Acromegaly;DNA:deletion:exon: PMID:19864451|REF_RGD_ID:10003142 12070912 GHR growth hormone receptor gene DOID:9006324 Isolated Growth Hormone Deficiency, Partial ISO RGD:69149 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency PMID:10984309|PMID:12217488|PMID:12910492|PMID:17274879|PMID:17462934|PMID:21525302|PMID:21846964|PMID:21900382|PMID:24150201|PMID:25741868|PMID:26467025|PMID:27408750|PMID:28492532|PMID:28498917|PMID:7565946|PMID:8504296|PMID:9140387|PMID:9814495 12070912 GHR growth hormone receptor gene DOID:9007102 Myocardial Ischemia ISO RGD:69149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12070912 GHR growth hormone receptor gene DOID:9007303 Idiopathic Short Stature, Autosomal ISO RGD:69149 D RGD:7240710 20180130 OMIM 12070912 GHR growth hormone receptor gene DOID:9007303 Idiopathic Short Stature, Autosomal ISO RGD:69149 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Growth hormone, insensitivity to, partial | ClinVar Annotator: match by term: Short stature, idiopathic, autosomal PMID:10984309|PMID:12217488|PMID:12910492|PMID:17274879|PMID:17462934|PMID:21525302|PMID:21846964|PMID:21900382|PMID:24150201|PMID:25741868|PMID:26467025|PMID:27408750|PMID:28492532|PMID:28498917|PMID:7565946|PMID:8504296|PMID:9140387|PMID:9814495 12070912 GHR growth hormone receptor gene DOID:9007661 Dwarfism ISO RGD:69149 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Short stature PMID:10984309|PMID:25741868|PMID:28492532 12070912 GHR growth hormone receptor gene DOID:9007661 Dwarfism treatment ISO RGD:69149 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:22026923|REF_RGD_ID:11566042 12070912 GHR growth hormone receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:69149 D RGD:9068941 20200609 RGD DNA:deletion:exon (human) PMID:17537658|REF_RGD_ID:2307363 12070912 GHR growth hormone receptor gene DOID:9521 Laron syndrome ISO RGD:69149 D RGD:7240710 20180130 OMIM 12070912 GHR growth hormone receptor gene DOID:9521 Laron syndrome ISO RGD:69149 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Laron dwarfism | ClinVar Annotator: match by term: Laron syndrome with elevated serum GH-binding protein | ClinVar Annotator: match by term: Laron syndrome with undetectable serum GH-binding protein | ClinVar Annotator: match by term: Laron-type isolated somatotropin defect PMID:10084588|PMID:10984309|PMID:11395710|PMID:11468686|PMID:11785980|PMID:11836282|PMID:12181638|PMID:12217488|PMID:12423626|PMID:12679461|PMID:1284474|PMID:12910492|PMID:15001620|PMID:15055350|PMID:15536163|PMID:16213173|PMID:16381017|PMID:17148568|PMID:1719554|PMID:17405847|PMID:17462934|PMID:17547682|PMID:19344888|PMID:19447840|PMID:19815155|PMID:1999489|PMID:20962506|PMID:21525302|PMID:21846964|PMID:21900382|PMID:2233903|PMID:24150201|PMID:24335149|PMID:24664892|PMID:25411237|PMID:25741868|PMID:26467025|PMID:27408750|PMID:2779634|PMID:2813379|PMID:28492532|PMID:28498917|PMID:31690835|PMID:7565946|PMID:8137822|PMID:8421103|PMID:8450064|PMID:8488849|PMID:8504296|PMID:8521189|PMID:8626815|PMID:8664975|PMID:9360529|PMID:9467570|PMID:9626125|PMID:9661611|PMID:9661642|PMID:9814495|PMID:9851797 12070912 GHR growth hormone receptor gene DOID:9669 senile cataract ISO RGD:10644 D RGD:9068941 20200609 RGD PMID:16129095|REF_RGD_ID:10003112 12070912 GHR growth hormone receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:10644 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney, liver PMID:11469393|REF_RGD_ID:2307367 12070912 GHR growth hormone receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:69149 D RGD:9068941 20200609 RGD PMID:12054124|REF_RGD_ID:2307366 12070939 TJP3 tight junction protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1319483 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12070939 TJP3 tight junction protein 3 gene DOID:0080600 COVID-19 ISO RGD:1319483 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12070939 TJP3 tight junction protein 3 gene DOID:13938 amenorrhea ISO RGD:1319483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12070939 TJP3 tight junction protein 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12070965 ATF6B activating transcription factor 6 beta gene DOID:0050553 JMP syndrome ISO RGD:1346168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12070965 ATF6B activating transcription factor 6 beta gene DOID:630 genetic disease ISO RGD:1346168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12070986 LSM8 LSM8 homolog, U6 small nuclear RNA associated gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12070998 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:0090060 Wolcott-Rallison syndrome ISO RGD:1354090 D RGD:7240710 20180130 OMIM 12070998 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:0090060 Wolcott-Rallison syndrome ISO RGD:1354090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Wolcott-Rallison dysplasia PMID:10932183|PMID:11997520|PMID:12960215|PMID:16813601|PMID:19837917|PMID:25741868|PMID:26380986|PMID:28492532|PMID:31183082|PMID:31264968|PMID:7551159 12070998 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:1824 status epilepticus ISO RGD:1354090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16492139 12070998 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:1838 Menkes disease ISO RGD:1354090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:25741868 12070998 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:70884 D RGD:9068941 20200903 RGD protein:increased expression:lung PMID:32209028|REF_RGD_ID:38549370 12070998 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:630 genetic disease ISO RGD:1354090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12070998 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:65 connective tissue disease ISO RGD:1354090 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 12070998 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:678 progressive supranuclear palsy ISO RGD:1354090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21685912 12070998 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1354090 D RGD:9068941 20200702 RGD protein:hypophosphorylation:liver: PMID:26234401|REF_RGD_ID:32716425 12070998 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9004009 Reperfusion Injury ISO RGD:70884 D RGD:9068941 20200609 RGD protein:increased phosphorylation:kidney PMID:15936177|REF_RGD_ID:1581062 12070998 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:1354090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19041636 12070998 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:70884 D RGD:9068941 20200709 RGD mRNA,protein:increased expression:chondrocyte PMID:31007149|REF_RGD_ID:34888237 12070998 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1354090 D RGD:9068941 20200702 RGD PMID:26234401|REF_RGD_ID:32716425 12070998 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9351 diabetes mellitus ISO RGD:1354090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 12070998 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1354090 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15483661|REF_RGD_ID:1601017 12071022 TM4SF18 transmembrane 4 L six family member 18 gene DOID:0050579 glycogen storage disease XV ISO RGD:1605011 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12071022 TM4SF18 transmembrane 4 L six family member 18 gene DOID:630 genetic disease ISO RGD:1605011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071035 C25H8orf74 chromosome 25 C8orf74 homolog gene DOID:630 genetic disease ISO RGD:1606427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071035 C25H8orf74 chromosome 25 C8orf74 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12071043 IDE insulin degrading enzyme gene DOID:0050850 diabetic encephalopathy ISO RGD:732801 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:27306699|REF_RGD_ID:13792796 12071043 IDE insulin degrading enzyme gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:2861 D RGD:9068941 20200609 RGD PMID:26576191|REF_RGD_ID:13792804 12071043 IDE insulin degrading enzyme gene DOID:10652 Alzheimer's disease ISO RGD:732801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 12071043 IDE insulin degrading enzyme gene DOID:10652 Alzheimer's disease ISO RGD:732801 D RGD:9068941 20200609 RGD PMID:28164769|REF_RGD_ID:13792824 12071043 IDE insulin degrading enzyme gene DOID:10652 Alzheimer's disease ISO RGD:732801 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:26963025|REF_RGD_ID:13792798 12071043 IDE insulin degrading enzyme gene DOID:10652 Alzheimer's disease ISO RGD:732802 D RGD:9068941 20200609 RGD PMID:12634421|REF_RGD_ID:737718 12071043 IDE insulin degrading enzyme gene DOID:10652 Alzheimer's disease treatment ISO RGD:2861 D RGD:9068941 20200609 RGD PMID:28157092|PMID:28553348|PMID:29948724|REF_RGD_ID:13792792|REF_RGD_ID:13792800|REF_RGD_ID:13792829 12071043 IDE insulin degrading enzyme gene DOID:10652 Alzheimer's disease treatment ISO RGD:2861 D RGD:9068941 20200609 RGD associated with Insulin Resistance PMID:28447730|REF_RGD_ID:13792793 12071043 IDE insulin degrading enzyme gene DOID:10652 Alzheimer's disease treatment ISO RGD:732802 D RGD:9068941 20200609 RGD PMID:30224067|REF_RGD_ID:13792790 12071043 IDE insulin degrading enzyme gene DOID:630 genetic disease ISO RGD:732801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071043 IDE insulin degrading enzyme gene DOID:9002775 Cognitive Dysfunction treatment ISO RGD:732802 D RGD:9068941 20200609 RGD associated with obesity PMID:27102787|REF_RGD_ID:13792826 12071043 IDE insulin degrading enzyme gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2861 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex PMID:29940507|REF_RGD_ID:13792791 12071043 IDE insulin degrading enzyme gene DOID:9352 type 2 diabetes mellitus ISO RGD:2861 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotype:exon:p.H18R, p.A890V (rat) PMID:10958757|REF_RGD_ID:737717 12071043 IDE insulin degrading enzyme gene DOID:9352 type 2 diabetes mellitus ISO RGD:732801 D RGD:9068941 20200609 RGD DNA:haplotype::CC haplotype of SNPs rs2209972 and rs1887922 in men of European descent from the Framingham Heart Study PMID:12765971|REF_RGD_ID:1626697 12071043 IDE insulin degrading enzyme gene DOID:9352 type 2 diabetes mellitus ISO RGD:732802 D RGD:9068941 20200609 RGD PMID:12634421|REF_RGD_ID:737718 12071043 IDE insulin degrading enzyme gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:732801 D RGD:9068941 20200609 RGD DNA:SNP,haplotype::no association with 21 single-marker SNPs or with 13 multi-marker haplotypes in 4206 individuals from Scandinavia and Canada PMID:16380485|REF_RGD_ID:1626698 12071080 PIAS1 protein inhibitor of activated STAT 1 gene DOID:12712 nephronophthisis ISO RGD:1317273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:26489029 12071080 PIAS1 protein inhibitor of activated STAT 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1307843 D RGD:9068941 20200609 RGD PMID:19350281|REF_RGD_ID:8693412 12071080 PIAS1 protein inhibitor of activated STAT 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1317273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12071080 PIAS1 protein inhibitor of activated STAT 1 gene DOID:2717 Bloom syndrome ISO RGD:1317273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12071080 PIAS1 protein inhibitor of activated STAT 1 gene DOID:37 skin disease ISO RGD:1317273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12071080 PIAS1 protein inhibitor of activated STAT 1 gene DOID:630 genetic disease ISO RGD:1317273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071080 PIAS1 protein inhibitor of activated STAT 1 gene DOID:9000998 Brain Injuries ISO RGD:1307843 D RGD:9068941 20200609 RGD protein:decreased expression:brain, nucleus PMID:21545521|REF_RGD_ID:8693413 12071080 PIAS1 protein inhibitor of activated STAT 1 gene DOID:9007964 Arsenic Poisoning ISO RGD:1317273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12071080 PIAS1 protein inhibitor of activated STAT 1 gene DOID:9256 colorectal cancer ISO RGD:1317273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12071103 WRNIP1 WRN helicase interacting protein 1 gene DOID:630 genetic disease ISO RGD:1346094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071114 ETNK2 ethanolamine kinase 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1313254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12071114 ETNK2 ethanolamine kinase 2 gene DOID:12849 autistic disorder ISO RGD:1313254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12071114 ETNK2 ethanolamine kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1313254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12071114 ETNK2 ethanolamine kinase 2 gene DOID:630 genetic disease ISO RGD:1313254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071114 ETNK2 ethanolamine kinase 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1313254 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12071114 ETNK2 ethanolamine kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12071131 ARPC1B actin related protein 2/3 complex subunit 1B gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:736395 D RGD:9068941 20200609 RGD protein:increased expression:oral mucosa (human) PMID:26138391|REF_RGD_ID:11046268 12071131 ARPC1B actin related protein 2/3 complex subunit 1B gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:736395 D RGD:9068941 20200609 RGD PMID:22608605|REF_RGD_ID:11046272 12071131 ARPC1B actin related protein 2/3 complex subunit 1B gene DOID:0111962 combined immunodeficiency ISO RGD:736395 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25741868|PMID:32499645 12071131 ARPC1B actin related protein 2/3 complex subunit 1B gene DOID:0112004 immunodeficiency 71 ISO RGD:736395 D RGD:7240710 20190315 OMIM 12071131 ARPC1B actin related protein 2/3 complex subunit 1B gene DOID:0112004 immunodeficiency 71 ISO RGD:736395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease PMID:17576681|PMID:25741868|PMID:28368018|PMID:28492532|PMID:29127144|PMID:30254128|PMID:32499645|PMID:33679784|PMID:9536098 12071131 ARPC1B actin related protein 2/3 complex subunit 1B gene DOID:10534 stomach cancer ISO RGD:736395 D RGD:9068941 20200609 RGD mRNA:decreased expression:gastric epithelium (human) PMID:15279900|REF_RGD_ID:11046270 12071131 ARPC1B actin related protein 2/3 complex subunit 1B gene DOID:2213 hemorrhagic disease ISO RGD:736395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532 12071131 ARPC1B actin related protein 2/3 complex subunit 1B gene DOID:4029 gastritis ISO RGD:736395 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: (human) PMID:23292007|REF_RGD_ID:11046273 12071131 ARPC1B actin related protein 2/3 complex subunit 1B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12071131 ARPC1B actin related protein 2/3 complex subunit 1B gene DOID:5419 schizophrenia ISO RGD:736395 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex (human) PMID:15098003|REF_RGD_ID:11571619 12071131 ARPC1B actin related protein 2/3 complex subunit 1B gene DOID:612 primary immunodeficiency disease ISO RGD:736395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12071131 ARPC1B actin related protein 2/3 complex subunit 1B gene DOID:630 genetic disease ISO RGD:736395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12071131 ARPC1B actin related protein 2/3 complex subunit 1B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12071146 ADCK5 aarF domain containing kinase 5 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1313570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12071146 ADCK5 aarF domain containing kinase 5 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1313570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12071146 ADCK5 aarF domain containing kinase 5 gene DOID:4621 holoprosencephaly ISO RGD:1313570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12071146 ADCK5 aarF domain containing kinase 5 gene DOID:630 genetic disease ISO RGD:1313570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071176 OSGIN2 oxidative stress induced growth inhibitor family member 2 gene DOID:630 genetic disease ISO RGD:1314879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071176 OSGIN2 oxidative stress induced growth inhibitor family member 2 gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1314879 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency PMID:28492532 12071187 ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1320284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12071187 ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 gene DOID:5419 schizophrenia ISO RGD:1320284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12071187 ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 gene DOID:630 genetic disease ISO RGD:1320284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071187 ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12071187 ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12071187 ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 gene DOID:9007661 Dwarfism ISO RGD:1320284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12071198 MCF2 MCF.2 cell line derived transforming sequence gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12071198 MCF2 MCF.2 cell line derived transforming sequence gene DOID:12259 hemophilia B ISO RGD:1345996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary factor IX deficiency disease PMID:2198809|PMID:24375831|PMID:28492532|PMID:3029178|PMID:4045960|PMID:8304338 12071198 MCF2 MCF.2 cell line derived transforming sequence gene DOID:12849 autistic disorder ISO RGD:1345996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12071198 MCF2 MCF.2 cell line derived transforming sequence gene DOID:630 genetic disease ISO RGD:1345996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071242 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) gene DOID:0060041 autism spectrum disorder ISO RGD:1352888 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12071242 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) gene DOID:0060074 ductal carcinoma in situ ISO RGD:1352888 D RGD:9068941 20200609 RGD protein:increased expression:myoepithelial cells: PMID:16735089|REF_RGD_ID:10053629 12071242 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1352888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12071242 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) gene DOID:0070004 myeloid neoplasm ISO RGD:733290 D RGD:9068941 20200609 RGD PMID:1665987|REF_RGD_ID:11552589 12071242 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) gene DOID:0080600 COVID-19 ISO RGD:1352888 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12071242 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) gene DOID:0080630 B-lymphoblastic leukemia/lymphoma treatment ISO RGD:1352888 D RGD:9068941 20200609 RGD PMID:26116659|REF_RGD_ID:11541128 12071242 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1352888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25555457 12071242 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1352888 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:epithelial cell: PMID:23196782|REF_RGD_ID:10053626 12071242 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) gene DOID:10283 prostate cancer ISO RGD:1352888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12071242 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) gene DOID:10283 prostate cancer disease_progression ISO RGD:1352888 D RGD:9068941 20200609 RGD protein:increased expression:epithelium: PMID:24571686|REF_RGD_ID:10053627 12071242 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) gene DOID:10591 pre-eclampsia ISO RGD:1352888 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood: PMID:19681734|REF_RGD_ID:10053633 12071242 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) gene DOID:10591 pre-eclampsia treatment ISO RGD:708428 D RGD:9068941 20200609 RGD PMID:25876805|REF_RGD_ID:11541124 12071242 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) gene DOID:11612 polycystic ovary syndrome ISO RGD:1352888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16263811|PMID:21262361|PMID:22381227 12071242 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) gene DOID:11612 polycystic ovary syndrome ISO RGD:708428 D RGD:9068941 20200609 RGD PMID:8402388|REF_RGD_ID:11541125 12071242 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) gene DOID:1240 leukemia ISO RGD:1352888 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs10508293 (human) PMID:18339682|REF_RGD_ID:11541126 12071242 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) gene DOID:1923 disorder of sexual development ISO RGD:1352888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25304492 12071242 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) gene DOID:289 endometriosis ISO RGD:1352888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21232532|PMID:25446850 12071242 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) gene DOID:5419 schizophrenia ISO RGD:1352888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12071242 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) gene DOID:5603 T-cell acute lymphoblastic leukemia treatment ISO RGD:1352888 D RGD:9068941 20200609 RGD PMID:26116659|REF_RGD_ID:11541128 12071242 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) gene DOID:630 genetic disease ISO RGD:1352888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071242 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) gene DOID:9000217 Stomach Neoplasms ISO RGD:1352888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 12071242 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12071242 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17507624|PMID:18306354 12071242 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1352888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19696165 12071242 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) gene DOID:9007715 Endometrial Neoplasms ISO RGD:1352888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16338060 12071242 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) gene DOID:9008046 Neoplasms, Hormone-Dependent ISO RGD:1352888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25304492 12071242 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) gene DOID:9970 obesity ISO RGD:1352888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12071272 SLC25A34 solute carrier family 25 member 34 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606920 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12071272 SLC25A34 solute carrier family 25 member 34 gene DOID:630 genetic disease ISO RGD:1606920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071272 SLC25A34 solute carrier family 25 member 34 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1606920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 12071323 DENR density regulated re-initiation and release factor gene DOID:630 genetic disease ISO RGD:1351149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071344 NLRP10 NLR family pyrin domain containing 10 gene DOID:630 genetic disease ISO RGD:1316559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071351 ACTR1B actin related protein 1B gene DOID:630 genetic disease ISO RGD:1316546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071365 LSMEM1 leucine rich single-pass membrane protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12071365 LSMEM1 leucine rich single-pass membrane protein 1 gene DOID:5419 schizophrenia ISO RGD:1606916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12071365 LSMEM1 leucine rich single-pass membrane protein 1 gene DOID:630 genetic disease ISO RGD:1606916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071365 LSMEM1 leucine rich single-pass membrane protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12071373 PLRG1 pleiotropic regulator 1 gene DOID:630 genetic disease ISO RGD:733629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071396 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:0081292 traumatic brain injury ISO RGD:69230 D RGD:9068941 20200609 RGD PMID:20713027|REF_RGD_ID:13830881 12071396 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:10652 Alzheimer's disease ISO RGD:735592 D RGD:9068941 20200609 RGD PMID:21223993|REF_RGD_ID:13830879 12071396 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:1350432 D RGD:9068941 20200609 RGD DNA:SNP: :rs1868402 (human) PMID:23727081|REF_RGD_ID:13830878 12071396 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:1350432 D RGD:9068941 20200609 RGD PMID:15012912|REF_RGD_ID:1580709 12071396 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:735592 D RGD:9068941 20220825 MouseDO 12071396 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:5419 schizophrenia ISO RGD:735592 D RGD:9068941 20220825 MouseDO OMIM:181500 12071396 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1350432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18344631 12071396 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1350432 D RGD:9068941 20200806 RGD PMID:16688406|REF_RGD_ID:1580706 12071396 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1350432 D RGD:9068941 20200806 RGD DNA:insertion/deletion:promoter: PMID:16209992|REF_RGD_ID:1580708 12071396 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:1350432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12071396 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:69230 D RGD:9068941 20200609 RGD PMID:16214533|REF_RGD_ID:1580707 12071409 TMEM268 transmembrane protein 268 gene DOID:630 genetic disease ISO RGD:1312125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071430 ASB11 ankyrin repeat and SOCS box containing 11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12071430 ASB11 ankyrin repeat and SOCS box containing 11 gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1344351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 12071430 ASB11 ankyrin repeat and SOCS box containing 11 gene DOID:12849 autistic disorder ISO RGD:1344351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12071430 ASB11 ankyrin repeat and SOCS box containing 11 gene DOID:13636 Fanconi anemia ISO RGD:1344351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 12071430 ASB11 ankyrin repeat and SOCS box containing 11 gene DOID:630 genetic disease ISO RGD:1344351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071430 ASB11 ankyrin repeat and SOCS box containing 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12071451 MIR26B microRNA mir-26b gene DOID:0060071 pre-malignant neoplasm ISO RGD:1350106 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12071451 MIR26B microRNA mir-26b gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1350106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12071451 MIR26B microRNA mir-26b gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1350106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12071451 MIR26B microRNA mir-26b gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1350106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12071451 MIR26B microRNA mir-26b gene DOID:3770 pulmonary fibrosis ISO RGD:1350106 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 12071451 MIR26B microRNA mir-26b gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1350106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12071451 MIR26B microRNA mir-26b gene DOID:6000 congestive heart failure ISO RGD:1350106 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12071451 MIR26B microRNA mir-26b gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1350106 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12071451 MIR26B microRNA mir-26b gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12071451 MIR26B microRNA mir-26b gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350106 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23922874 12071455 LRRC74B leucine rich repeat containing 74B gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1602795 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12071455 LRRC74B leucine rich repeat containing 74B gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1602795 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12071455 LRRC74B leucine rich repeat containing 74B gene DOID:11198 DiGeorge syndrome ISO RGD:1602795 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome 12071455 LRRC74B leucine rich repeat containing 74B gene DOID:12583 velocardiofacial syndrome ISO RGD:1602795 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12071455 LRRC74B leucine rich repeat containing 74B gene DOID:12849 autistic disorder ISO RGD:1602795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12071455 LRRC74B leucine rich repeat containing 74B gene DOID:5419 schizophrenia ISO RGD:1602795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12071455 LRRC74B leucine rich repeat containing 74B gene DOID:9007661 Dwarfism ISO RGD:1602795 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12071480 LOC102152131 sialic acid-binding Ig-like lectin 14 gene DOID:630 genetic disease ISO RGD:1353065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071569 CCL14 C-C motif chemokine ligand 14 gene DOID:630 genetic disease ISO RGD:1604060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071569 CCL14 C-C motif chemokine ligand 14 gene DOID:684 hepatocellular carcinoma ISO RGD:1604060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12071576 BET1L Bet1 golgi vesicular membrane trafficking protein like gene DOID:13223 uterine fibroid ISO RGD:1602713 D RGD:9068941 20200609 RGD DNA:SNP:rs2280543(human) PMID:23892540|REF_RGD_ID:14394614 12071576 BET1L Bet1 golgi vesicular membrane trafficking protein like gene DOID:2870 endometrial adenocarcinoma disease_progression ISO RGD:1602713 D RGD:9068941 20200609 RGD PMID:28654152|REF_RGD_ID:14394612 12071576 BET1L Bet1 golgi vesicular membrane trafficking protein like gene DOID:630 genetic disease ISO RGD:1602713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071595 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:0050451 Brugada syndrome ISO RGD:68576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 12071595 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:0050970 spinocerebellar ataxia type 19/22 ISO RGD:68576 D RGD:7240710 20180130 OMIM 12071595 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:0050970 spinocerebellar ataxia type 19/22 ISO RGD:68576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22 PMID:11284128|PMID:17576681|PMID:17581856|PMID:21349352|PMID:21640846|PMID:21703448|PMID:22284586|PMID:22336521|PMID:22402074|PMID:22457051|PMID:22584458|PMID:22840528|PMID:23280837|PMID:23280838|PMID:23400760|PMID:23414114|PMID:23834499|PMID:23838598|PMID:24762397|PMID:25175087|PMID:25214526|PMID:25401298|PMID:25410959|PMID:25741868|PMID:25741869|PMID:26016905|PMID:26220970|PMID:26467025|PMID:26633542|PMID:28074886|PMID:28166811|PMID:28341588|PMID:28362824|PMID:28444220|PMID:28492532|PMID:29053796|PMID:29062094|PMID:29482223|PMID:29527639|PMID:29953624|PMID:30662450|PMID:30776697|PMID:30847666|PMID:31017293|PMID:31130284|PMID:31195250|PMID:31293010|PMID:31695177|PMID:31737537|PMID:32709127|PMID:32818936|PMID:34087979|PMID:34361012|PMID:9536098 12071595 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:0060224 atrial fibrillation ISO RGD:68576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28416822|PMID:29892015|PMID:30061737 12071595 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:0110226 Brugada syndrome 9 ISO RGD:68576 D RGD:7240710 20180130 OMIM 12071595 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:0110226 Brugada syndrome 9 ISO RGD:68576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome 9 PMID:21349352|PMID:21640846|PMID:21703448|PMID:22284586|PMID:22336521|PMID:22457051|PMID:22840528|PMID:23400760|PMID:23414114|PMID:24762397|PMID:25214526|PMID:25741868|PMID:26016905|PMID:26467025|PMID:28492532|PMID:29053796|PMID:30662450|PMID:30776697|PMID:31017293|PMID:31130284|PMID:31737537|PMID:32709127 12071595 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:68576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 12071595 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:68576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 12071595 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:1826 epilepsy ISO RGD:68576 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12071595 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:630 genetic disease ISO RGD:68576 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22402074|PMID:25741868|PMID:26467025|PMID:26633542|PMID:28341588|PMID:28444220|PMID:28492532|PMID:30847666|PMID:31195250|PMID:31695177 12071595 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:9003936 Cardiomegaly ISO RGD:68577 D RGD:9068941 20200609 RGD protein:decreased expression:heart: PMID:23747723|REF_RGD_ID:8847123 12071613 ATP12A ATPase H+/K+ transporting non-gastric alpha2 subunit gene DOID:4500 hypokalemia ISO RGD:620569 D RGD:9068941 20200609 RGD PMID:9729517|REF_RGD_ID:13838663 12071613 ATP12A ATPase H+/K+ transporting non-gastric alpha2 subunit gene DOID:630 genetic disease ISO RGD:734042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071613 ATP12A ATPase H+/K+ transporting non-gastric alpha2 subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12071613 ATP12A ATPase H+/K+ transporting non-gastric alpha2 subunit gene DOID:9006646 Metabolic Syndrome ISO RGD:620569 D RGD:9068941 20200609 RGD PMID:23320804|REF_RGD_ID:13838660 12071640 ADRA1A adrenoceptor alpha 1A gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:736081 D RGD:9068941 20200609 RGD PMID:114750|REF_RGD_ID:5688374 12071640 ADRA1A adrenoceptor alpha 1A gene DOID:10763 hypertension ISO RGD:2055 D RGD:9068941 20200609 RGD mRNA:decreased expression:aorta PMID:16371063|REF_RGD_ID:1625770 12071640 ADRA1A adrenoceptor alpha 1A gene DOID:10763 hypertension ISO RGD:736081 D RGD:9068941 20200609 RGD PMID:19011682|REF_RGD_ID:5688340 12071640 ADRA1A adrenoceptor alpha 1A gene DOID:11612 polycystic ovary syndrome ISO RGD:2055 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:ovary PMID:15795180|REF_RGD_ID:5508374 12071640 ADRA1A adrenoceptor alpha 1A gene DOID:13948 bladder neck obstruction ISO RGD:2055 D RGD:9068941 20200609 RGD PMID:20886573|REF_RGD_ID:5688368 12071640 ADRA1A adrenoceptor alpha 1A gene DOID:1596 depressive disorder ISO RGD:736082 D RGD:9068941 20200609 RGD PMID:19540213|REF_RGD_ID:5688369 12071640 ADRA1A adrenoceptor alpha 1A gene DOID:5082 liver cirrhosis ISO RGD:736081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16782692 12071640 ADRA1A adrenoceptor alpha 1A gene DOID:630 genetic disease ISO RGD:736081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071640 ADRA1A adrenoceptor alpha 1A gene DOID:684 hepatocellular carcinoma ISO RGD:736081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12071640 ADRA1A adrenoceptor alpha 1A gene DOID:9000039 Spinal Cord Injuries ISO RGD:2055 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:16524515|REF_RGD_ID:5688371 12071640 ADRA1A adrenoceptor alpha 1A gene DOID:9000998 Brain Injuries ISO RGD:2055 D RGD:9068941 20200609 RGD mRNA:increased expression:frontal cortex PMID:20974230|REF_RGD_ID:5688366 12071640 ADRA1A adrenoceptor alpha 1A gene DOID:9002211 Hyperalgesia ISO RGD:2055 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA:increased expression:dorsal root ganglion PMID:10841349|REF_RGD_ID:5688377 12071640 ADRA1A adrenoceptor alpha 1A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2055 D RGD:9068941 20200609 RGD PMID:17054657|REF_RGD_ID:1625775 12071640 ADRA1A adrenoceptor alpha 1A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19133277 12071640 ADRA1A adrenoceptor alpha 1A gene DOID:9006024 Hypotension ISO RGD:2055 D RGD:9068941 20200609 RGD PMID:12433595|REF_RGD_ID:1625780 12071640 ADRA1A adrenoceptor alpha 1A gene DOID:9006880 Urinary Incontinence ISO RGD:2055 D RGD:9068941 20200609 RGD PMID:16890732|REF_RGD_ID:5688352 12071640 ADRA1A adrenoceptor alpha 1A gene DOID:9007174 Ventricular Remodeling ISO RGD:736081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20668454 12071640 ADRA1A adrenoceptor alpha 1A gene DOID:9008023 Memory Disorders ISO RGD:2055 D RGD:9068941 20200609 RGD associated with brain injuries PMID:20974230|REF_RGD_ID:5688366 12071677 AFDN afadin, adherens junction formation factor gene DOID:0060041 autism spectrum disorder ISO RGD:731514 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12071677 AFDN afadin, adherens junction formation factor gene DOID:14330 Parkinson's disease ISO RGD:731514 D RGD:9068941 20200609 RGD protein:decreased expression: caudate-putamen, substantia nigra PMID:23393160|REF_RGD_ID:13838733 12071677 AFDN afadin, adherens junction formation factor gene DOID:3459 breast carcinoma disease_progression ISO RGD:731514 D RGD:9068941 20200609 RGD PMID:16819513|REF_RGD_ID:13838725 12071677 AFDN afadin, adherens junction formation factor gene DOID:630 genetic disease ISO RGD:731514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071790 TRIM54 tripartite motif containing 54 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1354245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12071790 TRIM54 tripartite motif containing 54 gene DOID:630 genetic disease ISO RGD:1354245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071803 NCOA4 nuclear receptor coactivator 4 gene DOID:10283 prostate cancer ISO RGD:1348400 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:12368219|REF_RGD_ID:2293535 12071803 NCOA4 nuclear receptor coactivator 4 gene DOID:10283 prostate cancer severity ISO RGD:1348400 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:15166229|REF_RGD_ID:2293534 12071803 NCOA4 nuclear receptor coactivator 4 gene DOID:11372 megacolon ISO RGD:1348400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12071803 NCOA4 nuclear receptor coactivator 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:1348400 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:16580389|REF_RGD_ID:2293533 12071803 NCOA4 nuclear receptor coactivator 4 gene DOID:3008 invasive ductal carcinoma ISO RGD:1348400 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:11561770|REF_RGD_ID:2293536 12071803 NCOA4 nuclear receptor coactivator 4 gene DOID:4001 ovarian carcinoma ISO RGD:1348400 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:11161850|REF_RGD_ID:2293537 12071803 NCOA4 nuclear receptor coactivator 4 gene DOID:630 genetic disease ISO RGD:1348400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071803 NCOA4 nuclear receptor coactivator 4 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1348400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23811263 12071833 TNPO1 transportin 1 gene DOID:630 genetic disease ISO RGD:1318103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071833 TNPO1 transportin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12071862 RPL24 ribosomal protein L24 gene DOID:5723 optic atrophy ISO RGD:731427 D RGD:9068941 20220825 MouseDO OMIM:165300 | OMIM:165500 | OMIM:258500 | OMIM:311050 | OMIM:605293 | OMIM:610708 12071862 RPL24 ribosomal protein L24 gene DOID:630 genetic disease ISO RGD:731426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071862 RPL24 ribosomal protein L24 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12071872 TPRG1 tumor protein p63 regulated 1 gene DOID:5419 schizophrenia ISO RGD:1605237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12071872 TPRG1 tumor protein p63 regulated 1 gene DOID:630 genetic disease ISO RGD:1605237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071889 CMTM2 CKLF like MARVEL transmembrane domain containing 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1342693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12071889 CMTM2 CKLF like MARVEL transmembrane domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1342693 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12071889 CMTM2 CKLF like MARVEL transmembrane domain containing 2 gene DOID:0110255 cataract 5 multiple types ISO RGD:1342693 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 12071889 CMTM2 CKLF like MARVEL transmembrane domain containing 2 gene DOID:630 genetic disease ISO RGD:1342693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071889 CMTM2 CKLF like MARVEL transmembrane domain containing 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1342693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12071899 TTC8 tetratricopeptide repeat domain 8 gene DOID:0110130 Bardet-Biedl syndrome 8 ISO RGD:1317152 D RGD:7240710 20180130 OMIM 12071899 TTC8 tetratricopeptide repeat domain 8 gene DOID:0110130 Bardet-Biedl syndrome 8 ISO RGD:1317152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 8 PMID:14520415|PMID:16199547|PMID:16308660|PMID:16877420|PMID:17576681|PMID:19797195|PMID:20177705|PMID:21044901|PMID:21052717|PMID:24033266|PMID:25097241|PMID:25741868|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30718709|PMID:30886724|PMID:32962042|PMID:33138063|PMID:33532864|PMID:33964006|PMID:9536098 12071899 TTC8 tetratricopeptide repeat domain 8 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:1317152 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 12071899 TTC8 tetratricopeptide repeat domain 8 gene DOID:0110398 retinitis pigmentosa 51 ISO RGD:1317152 D RGD:7240710 20180130 OMIM 12071899 TTC8 tetratricopeptide repeat domain 8 gene DOID:0110398 retinitis pigmentosa 51 ISO RGD:1317152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 51 PMID:16199547|PMID:16308660|PMID:16877420|PMID:17576681|PMID:19797195|PMID:20177705|PMID:20451172|PMID:21044901|PMID:21052717|PMID:24033266|PMID:25097241|PMID:25741868|PMID:25776555|PMID:25999674|PMID:26195043|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30718709|PMID:30886724|PMID:32962042|PMID:33138063|PMID:33964006|PMID:9536098 12071899 TTC8 tetratricopeptide repeat domain 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1317152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14520415|PMID:16308660|PMID:25097241|PMID:25741868|PMID:28492532|PMID:30718709 12071899 TTC8 tetratricopeptide repeat domain 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1317152 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14520415|PMID:16308660|PMID:25097241|PMID:25326637|PMID:25741868|PMID:28492532|PMID:30718709 12071899 TTC8 tetratricopeptide repeat domain 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1317152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14520415|PMID:16308660|PMID:25097241|PMID:25326637|PMID:25741868|PMID:28492532|PMID:30718709|PMID:33964006 12071899 TTC8 tetratricopeptide repeat domain 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1317152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14520415|PMID:16308660|PMID:25097241|PMID:25741868|PMID:28492532|PMID:30718709|PMID:33964006 12071899 TTC8 tetratricopeptide repeat domain 8 gene DOID:1059 intellectual disability ISO RGD:1317152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, moderate PMID:16308660|PMID:17576681|PMID:20177705|PMID:21044901|PMID:24033266|PMID:25741868|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30886724|PMID:32962042|PMID:33138063|PMID:9536098 12071899 TTC8 tetratricopeptide repeat domain 8 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1317152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:14520415|PMID:16199547|PMID:16308660|PMID:16877420|PMID:17576681|PMID:19797195|PMID:20177705|PMID:21044901|PMID:21052717|PMID:24033266|PMID:25097241|PMID:25741868|PMID:25999674|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30718709|PMID:30886724|PMID:31736247|PMID:32962042|PMID:33138063|PMID:33587123|PMID:33964006|PMID:9536098 12071899 TTC8 tetratricopeptide repeat domain 8 gene DOID:1935 Bardet-Biedl syndrome susceptibility ISO RGD:1317152 D RGD:9068941 20200609 RGD DNA:deletions:exon, splice junction :p.E187_Y188del, IVS10+2_+4delTGC PMID:14520415|REF_RGD_ID:1624198 12071899 TTC8 tetratricopeptide repeat domain 8 gene DOID:4448 macular degeneration ISO RGD:1317152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25097241|PMID:25741868|PMID:28492532|PMID:30718709|PMID:33964006 12071899 TTC8 tetratricopeptide repeat domain 8 gene DOID:630 genetic disease ISO RGD:1317152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25097241|PMID:25741868|PMID:28492532|PMID:30718709|PMID:33964006 12071899 TTC8 tetratricopeptide repeat domain 8 gene DOID:8466 retinal degeneration IAGP D RGD:12801476 20221130 OMIA Progressive retinal atrophy, TTC8-related PMID:22065099|PMID:26401321|PMID:26427412|PMID:32962042|PMID:36325094 12071899 TTC8 tetratricopeptide repeat domain 8 gene DOID:8501 fundus dystrophy ISO RGD:1317152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16308660|PMID:17576681|PMID:20177705|PMID:21044901|PMID:24033266|PMID:25741868|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30886724|PMID:32962042|PMID:33138063|PMID:9536098 12071928 UBR7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:0080054 achondrogenesis type IA ISO RGD:1344986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12071928 UBR7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:0081063 DICER1 syndrome ISO RGD:1344986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 12071928 UBR7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:1059 intellectual disability ISO RGD:1344986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12071928 UBR7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:2843 long QT syndrome ISO RGD:1344986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12071928 UBR7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:630 genetic disease ISO RGD:1344986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071928 UBR7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:9003293 Li-Campeau Syndrome ISO RGD:1344986 D RGD:7240710 20210303 OMIM 12071928 UBR7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:9003293 Li-Campeau Syndrome ISO RGD:1344986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Li-Campeau syndrome PMID:25741868|PMID:33340455 12071928 UBR7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:9008086 Developmental Disabilities ISO RGD:1344986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12071943 MERTK MER proto-oncogene, tyrosine kinase gene DOID:0060903 thrombosis ISO RGD:731631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15130911 12071943 MERTK MER proto-oncogene, tyrosine kinase gene DOID:0060903 thrombosis ISO RGD:731632 D RGD:9068941 20200609 RGD PMID:15130911|REF_RGD_ID:1582496 12071943 MERTK MER proto-oncogene, tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:731631 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12071943 MERTK MER proto-oncogene, tyrosine kinase gene DOID:0110367 retinitis pigmentosa 38 IAGP D RGD:12801476 20210603 OMIA Progressive retinal atrophy, MERTK-related PMID:25198798|PMID:25517981|PMID:28813472 12071943 MERTK MER proto-oncogene, tyrosine kinase gene DOID:0110367 retinitis pigmentosa 38 ISO RGD:731631 D RGD:7240710 20180130 OMIM 12071943 MERTK MER proto-oncogene, tyrosine kinase gene DOID:0110367 retinitis pigmentosa 38 ISO RGD:731631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 38 PMID:11062461|PMID:11727200|PMID:15111602|PMID:16199547|PMID:16714263|PMID:17301963|PMID:17576681|PMID:20300561|PMID:21677792|PMID:22180149|PMID:22939401|PMID:24033266|PMID:24265693|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25326637|PMID:25741868|PMID:26263531|PMID:26355662|PMID:26872967|PMID:28041643|PMID:28462455|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29659094|PMID:30718709|PMID:30851773|PMID:32036094|PMID:33353011|PMID:9536098 12071943 MERTK MER proto-oncogene, tyrosine kinase gene DOID:10584 retinitis pigmentosa ISO RGD:731631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11062461|PMID:11592982|PMID:15111602|PMID:16199547|PMID:16714263|PMID:17301963|PMID:17576681|PMID:19956407|PMID:20300561|PMID:22180149|PMID:22939401|PMID:24265693|PMID:24625443|PMID:24938718|PMID:25097241|PMID:25741868|PMID:26263531|PMID:26355662|PMID:26700204|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29659094|PMID:30054919|PMID:30718709|PMID:31725702|PMID:9536098 12071943 MERTK MER proto-oncogene, tyrosine kinase gene DOID:10584 retinitis pigmentosa ISO RGD:731631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11062461|PMID:15111602|PMID:16199547|PMID:16714263|PMID:17301963|PMID:17576681|PMID:19956407|PMID:20300561|PMID:22180149|PMID:22939401|PMID:24265693|PMID:24625443|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25741868|PMID:26355662|PMID:26700204|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29659094|PMID:30054919|PMID:30718709|PMID:31054281|PMID:31725702|PMID:32036094|PMID:33353011|PMID:9536098 12071943 MERTK MER proto-oncogene, tyrosine kinase gene DOID:2986 IgA glomerulonephritis ISO RGD:731631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 12071943 MERTK MER proto-oncogene, tyrosine kinase gene DOID:305 carcinoma ISO RGD:731631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028587 12071943 MERTK MER proto-oncogene, tyrosine kinase gene DOID:630 genetic disease ISO RGD:731631 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17301963|PMID:24265693|PMID:26355662|PMID:28492532|PMID:29659094 12071943 MERTK MER proto-oncogene, tyrosine kinase gene DOID:8466 retinal degeneration ISO RGD:69283 D RGD:9068941 20201218 RGD PMID:11592982|REF_RGD_ID:69668 12071943 MERTK MER proto-oncogene, tyrosine kinase gene DOID:8466 retinal degeneration treatment ISO RGD:69283 D RGD:9068941 20200609 RGD PMID:11592982|REF_RGD_ID:69668 12071943 MERTK MER proto-oncogene, tyrosine kinase gene DOID:8501 fundus dystrophy ISO RGD:731631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11062461|PMID:11727200|PMID:15111602|PMID:16199547|PMID:17301963|PMID:17576681|PMID:24265693|PMID:24625443|PMID:25097241|PMID:25741868|PMID:26355662|PMID:26700204|PMID:27208204|PMID:28041643|PMID:28462455|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29074561|PMID:29659094|PMID:30718709|PMID:33353011|PMID:33921607|PMID:9536098 12071943 MERTK MER proto-oncogene, tyrosine kinase gene DOID:9003121 Thromboembolism ISO RGD:731631 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17047157 12071943 MERTK MER proto-oncogene, tyrosine kinase gene DOID:9477 pulmonary embolism ISO RGD:731631 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19028587 12071943 MERTK MER proto-oncogene, tyrosine kinase gene DOID:9477 pulmonary embolism ISO RGD:731632 D RGD:9068941 20200609 RGD PMID:15130911|REF_RGD_ID:1582496 12071969 MRPS12 mitochondrial ribosomal protein S12 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1314714 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12071969 MRPS12 mitochondrial ribosomal protein S12 gene DOID:630 genetic disease ISO RGD:1314714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12071969 MRPS12 mitochondrial ribosomal protein S12 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1314714 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12071979 CAPN5 calpain 5 gene DOID:1059 intellectual disability ISO RGD:731758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12071979 CAPN5 calpain 5 gene DOID:630 genetic disease ISO RGD:731758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29472286|PMID:29610848|PMID:30986125 12071979 CAPN5 calpain 5 gene DOID:8501 fundus dystrophy ISO RGD:731758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 12071979 CAPN5 calpain 5 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:731758 D RGD:7240710 20200115 OMIM 12071979 CAPN5 calpain 5 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:731758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Proliferative vitreoretinopathy PMID:2234842|PMID:23055945|PMID:24381307|PMID:25741868|PMID:25994508|PMID:28492532|PMID:29472286|PMID:29610848|PMID:30986125 12072007 FBXL14 F-box and leucine rich repeat protein 14 gene DOID:630 genetic disease ISO RGD:1313599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072007 FBXL14 F-box and leucine rich repeat protein 14 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1313599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12072025 SLC16A12 solute carrier family 16 member 12 gene DOID:0070353 cataract 47 ISO RGD:1606094 D RGD:7240710 20180130 OMIM 12072025 SLC16A12 solute carrier family 16 member 12 gene DOID:0070353 cataract 47 ISO RGD:1606094 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CATARACT, JUVENILE, WITH MICROCORNEA | ClinVar Annotator: match by term: Cataract, juvenile, with microcornea and glucosuria PMID:17458810|PMID:18304496|PMID:21778275|PMID:24281366|PMID:25741868|PMID:26376857|PMID:26694549|PMID:28492532 12072025 SLC16A12 solute carrier family 16 member 12 gene DOID:12270 coloboma ISO RGD:1606094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coloboma of eye PMID:24281366|PMID:25741868|PMID:28492532 12072025 SLC16A12 solute carrier family 16 member 12 gene DOID:14497 Wolman disease ISO RGD:1606094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:28492532 12072025 SLC16A12 solute carrier family 16 member 12 gene DOID:630 genetic disease ISO RGD:1606094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072025 SLC16A12 solute carrier family 16 member 12 gene DOID:83 cataract ISO RGD:1606094 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:26694549 12072063 RHOV ras homolog family member V gene DOID:2717 Bloom syndrome ISO RGD:1604729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12072063 RHOV ras homolog family member V gene DOID:630 genetic disease ISO RGD:1604729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072063 RHOV ras homolog family member V gene DOID:9256 colorectal cancer ISO RGD:1604729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12072070 MYLK myosin light chain kinase gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:28492532 12072070 MYLK myosin light chain kinase gene DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome | ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal PMID:24033266|PMID:25333361|PMID:25637381|PMID:25741868|PMID:27879251|PMID:28492532|PMID:28602422 12072070 MYLK myosin light chain kinase gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1322095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12072070 MYLK myosin light chain kinase gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral myopathy PMID:28602422 12072070 MYLK myosin light chain kinase gene DOID:0080682 autosomal dominant familial visceral neuropathy ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal PMID:28602422 12072070 MYLK myosin light chain kinase gene DOID:0080685 aortic dissection ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic dissection PMID:25326637|PMID:25741868|PMID:28492532|PMID:30755392 12072070 MYLK myosin light chain kinase gene DOID:10283 prostate cancer ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12072070 MYLK myosin light chain kinase gene DOID:11394 adult respiratory distress syndrome ISO RGD:1322095 D RGD:9068941 20211126 RGD DNA:missense mutations, silent mutation:CDS:p.H21P, p.P147S, p.T335T (human) PMID:18828194|REF_RGD_ID:4891491 12072070 MYLK myosin light chain kinase gene DOID:1205 allergic disease ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15621374 12072070 MYLK myosin light chain kinase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322095 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25637381|PMID:25741868|PMID:25944730|PMID:27879251|PMID:28139901|PMID:28166811|PMID:28492532|PMID:28512736|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29907982|PMID:29961567|PMID:33895855|PMID:9536098 12072070 MYLK myosin light chain kinase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28139901|PMID:28166811|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29907982|PMID:29961567|PMID:30056620|PMID:31296287|PMID:33895855|PMID:9536098 12072070 MYLK myosin light chain kinase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322095 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27854218|PMID:27879251|PMID:28139901|PMID:28166811|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:31296287|PMID:33895855|PMID:9536098 12072070 MYLK myosin light chain kinase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30755392|PMID:31296287|PMID:33895855|PMID:9536098 12072070 MYLK myosin light chain kinase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30755392|PMID:31296287|PMID:33895855|PMID:34422331|PMID:9536098 12072070 MYLK myosin light chain kinase gene DOID:14323 Marfan syndrome ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 12072070 MYLK myosin light chain kinase gene DOID:1686 glaucoma ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20375339 12072070 MYLK myosin light chain kinase gene DOID:178 vascular disease ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18511912 12072070 MYLK myosin light chain kinase gene DOID:1882 atrial heart septal defect ISO RGD:1322095 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:21055718|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29543232|PMID:29544503|PMID:29961567 12072070 MYLK myosin light chain kinase gene DOID:2841 asthma ISO RGD:1322095 D RGD:9068941 20200609 RGD PMID:17472811|REF_RGD_ID:4891492 12072070 MYLK myosin light chain kinase gene DOID:3070 high grade glioma ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10232591 12072070 MYLK myosin light chain kinase gene DOID:3627 aortic aneurysm ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial aortic aneurysms PMID:26017485|PMID:28492532 12072070 MYLK myosin light chain kinase gene DOID:4724 brain edema ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19943851 12072070 MYLK myosin light chain kinase gene DOID:552 pneumonia ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15863634 12072070 MYLK myosin light chain kinase gene DOID:630 genetic disease ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12072070 MYLK myosin light chain kinase gene DOID:65 connective tissue disease ISO RGD:1322095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:21055718|PMID:24033266|PMID:25741868|PMID:26854089|PMID:27879251|PMID:28492532 12072070 MYLK myosin light chain kinase gene DOID:77 gastrointestinal system disease ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15621374 12072070 MYLK myosin light chain kinase gene DOID:807 carotid artery occlusion ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carotid artery occlusion PMID:25326637|PMID:25741868|PMID:28492532|PMID:30755392 12072070 MYLK myosin light chain kinase gene DOID:9000654 Aortic Aneurysm, Familial Abdominal 1 ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial abdominal, 1 PMID:28492532 12072070 MYLK myosin light chain kinase gene DOID:9000669 Ventricular Dysfunction, Right ISO RGD:1322095 D RGD:9068941 20200609 RGD PMID:20035030|REF_RGD_ID:4891489 12072070 MYLK myosin light chain kinase gene DOID:9000669 Ventricular Dysfunction, Right ISO RGD:1616651 D RGD:9068941 20200609 RGD PMID:20035030|REF_RGD_ID:4891489 12072070 MYLK myosin light chain kinase gene DOID:9000719 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 ISO RGD:1322095 D RGD:7240710 20210602 OMIM 12072070 MYLK myosin light chain kinase gene DOID:9000719 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 ISO RGD:1322095 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25637381|PMID:25741868|PMID:26017485|PMID:27146836|PMID:27153395|PMID:27879251|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28602422|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30755392|PMID:33895855|PMID:34422331|PMID:9536098 12072070 MYLK myosin light chain kinase gene DOID:9000808 Hypercholesterolemia ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21052790 12072070 MYLK myosin light chain kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12970723|PMID:18710790 12072070 MYLK myosin light chain kinase gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 12072070 MYLK myosin light chain kinase gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 12072070 MYLK myosin light chain kinase gene DOID:9004484 Sepsis ISO RGD:1322095 D RGD:9068941 20200609 RGD PMID:16399953|REF_RGD_ID:1581052 12072070 MYLK myosin light chain kinase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10232591|PMID:12970723 12072070 MYLK myosin light chain kinase gene DOID:9004610 Acute Lung Injury ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19374788 12072070 MYLK myosin light chain kinase gene DOID:9004610 Acute Lung Injury ISO RGD:1322095 D RGD:9068941 20200609 RGD associated with Sepsis PMID:16399953|REF_RGD_ID:1581052 12072070 MYLK myosin light chain kinase gene DOID:9005890 Disproportionate Tall Stature ISO RGD:1322095 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature PMID:25741868 12072070 MYLK myosin light chain kinase gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1322095 D RGD:7240710 20180130 OMIM 12072070 MYLK myosin light chain kinase gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1322095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:11029314|PMID:16199547|PMID:16399953|PMID:17576681|PMID:21055718|PMID:21520333|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27879251|PMID:28074886|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28401540|PMID:28492532|PMID:28512736|PMID:28602422|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30755392|PMID:31296287|PMID:33895855|PMID:34422331|PMID:9536098 12072070 MYLK myosin light chain kinase gene DOID:9007096 Stroke ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stroke PMID:25326637|PMID:25741868|PMID:28492532|PMID:30755392 12072070 MYLK myosin light chain kinase gene DOID:9007234 Carotid Artery Dissection, Internal ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Internal carotid artery dissection PMID:25326637|PMID:25741868|PMID:28492532|PMID:30755392 12072070 MYLK myosin light chain kinase gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AAT1 | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:25637381|PMID:25741868|PMID:27879251|PMID:28492532 12072070 MYLK myosin light chain kinase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12072070 MYLK myosin light chain kinase gene DOID:9270 alkaptonuria ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12072070 MYLK myosin light chain kinase gene DOID:9348 carotid artery dissection ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carotid artery dissection PMID:25326637|PMID:25741868|PMID:28492532|PMID:30755392 12072119 EIF4EBP2 eukaryotic translation initiation factor 4E binding protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1321949 D RGD:9068941 20220825 MouseDO 12072119 EIF4EBP2 eukaryotic translation initiation factor 4E binding protein 2 gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1321948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 PMID:28492532 12072119 EIF4EBP2 eukaryotic translation initiation factor 4E binding protein 2 gene DOID:630 genetic disease ISO RGD:1321948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072119 EIF4EBP2 eukaryotic translation initiation factor 4E binding protein 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12072119 EIF4EBP2 eukaryotic translation initiation factor 4E binding protein 2 gene DOID:9008288 Visceral Heterotaxy 5, Autosomal ISO RGD:1321948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal PMID:12447384|PMID:18579681|PMID:28492532 12072126 CACNG5 calcium voltage-gated channel auxiliary subunit gamma 5 gene DOID:630 genetic disease ISO RGD:734378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072136 SLC34A3 solute carrier family 34 member 3 gene DOID:0050777 Joubert syndrome ISO RGD:1348656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12072136 SLC34A3 solute carrier family 34 member 3 gene DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria ISO RGD:1348656 D RGD:7240710 20180130 OMIM 12072136 SLC34A3 solute carrier family 34 member 3 gene DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria ISO RGD:1348656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria PMID:16199547|PMID:16358214|PMID:16358215|PMID:16849419|PMID:17576681|PMID:18523928|PMID:18996815|PMID:19820004|PMID:20074341|PMID:21344632|PMID:22159077|PMID:22387237|PMID:24033266|PMID:24176905|PMID:24246249|PMID:25741868|PMID:26399350|PMID:26789268|PMID:28492532|PMID:29505567|PMID:29809158|PMID:2983203|PMID:31440709|PMID:31672324|PMID:33223529|PMID:33226606|PMID:33532864|PMID:9536098 12072136 SLC34A3 solute carrier family 34 member 3 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1348656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12072136 SLC34A3 solute carrier family 34 member 3 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1348656 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12072136 SLC34A3 solute carrier family 34 member 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1348656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12072136 SLC34A3 solute carrier family 34 member 3 gene DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 ISO RGD:1348656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 PMID:25741868|PMID:28492532|PMID:31672324 12072136 SLC34A3 solute carrier family 34 member 3 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1348656 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12072136 SLC34A3 solute carrier family 34 member 3 gene DOID:0081097 Rafiq syndrome ISO RGD:1348656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12072136 SLC34A3 solute carrier family 34 member 3 gene DOID:1826 epilepsy ISO RGD:1348656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12072136 SLC34A3 solute carrier family 34 member 3 gene DOID:630 genetic disease ISO RGD:1348656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12072136 SLC34A3 solute carrier family 34 member 3 gene DOID:9001738 Hypercalciuria ISO RGD:1348656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercalciuria 12072136 SLC34A3 solute carrier family 34 member 3 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1348656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12072153 DPYSL4 dihydropyrimidinase like 4 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:737533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12072153 DPYSL4 dihydropyrimidinase like 4 gene DOID:630 genetic disease ISO RGD:737533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072172 SLIT2 slit guidance ligand 2 gene DOID:0050144 Kartagener syndrome ISO RGD:735484 D RGD:9068941 20220825 MouseDO 12072172 SLIT2 slit guidance ligand 2 gene DOID:0050545 visceral heterotaxy ISO RGD:735484 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 12072172 SLIT2 slit guidance ligand 2 gene DOID:0060224 atrial fibrillation ISO RGD:733021 D RGD:9068941 20230330 RGD associated with heart valve disease;protein:increased expression:right atrial myocardium PMID:33236535|REF_RGD_ID:242905189 12072172 SLIT2 slit guidance ligand 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:733021 D RGD:9068941 20220210 CTD CTD Direct Evidence: therapeutic PMID:33120864 12072172 SLIT2 slit guidance ligand 2 gene DOID:0080205 CAKUT ISO RGD:733021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:26026792|PMID:28492532 12072172 SLIT2 slit guidance ligand 2 gene DOID:0080745 polymyositis ISO RGD:733021 D RGD:9068941 20230330 RGD mRNA,protein:increased expression:muscle PMID:32213157|REF_RGD_ID:243048425 12072172 SLIT2 slit guidance ligand 2 gene DOID:10223 dermatomyositis ISO RGD:733021 D RGD:9068941 20230330 RGD mRNA,protein:increased expression:muscle PMID:32213157|REF_RGD_ID:243048425 12072172 SLIT2 slit guidance ligand 2 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:733021 D RGD:9068941 20230330 RGD associated with eye disease; protein:increased expression:vitreous PMID:28973045|REF_RGD_ID:243048421 12072172 SLIT2 slit guidance ligand 2 gene DOID:1657 ventricular septal defect ISO RGD:735484 D RGD:9068941 20230330 RGD PMID:25691540|REF_RGD_ID:243048427 12072172 SLIT2 slit guidance ligand 2 gene DOID:224 transient cerebral ischemia ISO RGD:69310 D RGD:9068941 20230330 RGD protein:increased expression:brain, astrocyte PMID:27686659|REF_RGD_ID:243048429 12072172 SLIT2 slit guidance ligand 2 gene DOID:224 transient cerebral ischemia ISO RGD:69310 D RGD:9068941 20230330 RGD protein:increased expression:hippocampus PMID:26764532|REF_RGD_ID:11573340 12072172 SLIT2 slit guidance ligand 2 gene DOID:2975 cystic kidney disease ISO RGD:735484 D RGD:9068941 20220825 MouseDO 12072172 SLIT2 slit guidance ligand 2 gene DOID:3328 temporal lobe epilepsy ISO RGD:733021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20153733 12072172 SLIT2 slit guidance ligand 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:69310 D RGD:9068941 20230406 RGD mRNA:increased expression:lung PMID:19944214|REF_RGD_ID:243048459 12072172 SLIT2 slit guidance ligand 2 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:69310 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney, glomerulus PMID:15215188|REF_RGD_ID:2316132 12072172 SLIT2 slit guidance ligand 2 gene DOID:5409 lung small cell carcinoma ISO RGD:733021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941188 12072172 SLIT2 slit guidance ligand 2 gene DOID:630 genetic disease ISO RGD:733021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12072172 SLIT2 slit guidance ligand 2 gene DOID:684 hepatocellular carcinoma ISO RGD:733021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19100240 12072172 SLIT2 slit guidance ligand 2 gene DOID:8947 diabetic retinopathy ISO RGD:69310 D RGD:9068941 20230330 RGD mRNA,protein:increased expression:retina PMID:28973045|REF_RGD_ID:243048421 12072172 SLIT2 slit guidance ligand 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:69310 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:19783284|REF_RGD_ID:2316127 12072172 SLIT2 slit guidance ligand 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:69310 D RGD:9068941 20230401 RGD mRNA,protein:decreased expression:spinal cord: PMID:27893610|REF_RGD_ID:243048440 12072172 SLIT2 slit guidance ligand 2 gene DOID:9000998 Brain Injuries exacerbates ISO RGD:69310 D RGD:9068941 20230401 RGD PMID:26550694|REF_RGD_ID:243048437 12072172 SLIT2 slit guidance ligand 2 gene DOID:9003139 Cardiac Fibrosis ISO RGD:735484 D RGD:9068941 20230330 RGD protein:increased expression:left ventricle PMID:33236535|REF_RGD_ID:242905189 12072172 SLIT2 slit guidance ligand 2 gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:69310 D RGD:9068941 20230330 RGD PMID:31356825|REF_RGD_ID:242905191 12072172 SLIT2 slit guidance ligand 2 gene DOID:9006182 Carotid Artery Injuries ISO RGD:69310 D RGD:9068941 20230401 RGD mRNA:increased expression:carotid artery PMID:26841069|REF_RGD_ID:243048443 12072172 SLIT2 slit guidance ligand 2 gene DOID:9008104 Cancer Pain ameliorates ISO RGD:69310 D RGD:9068941 20230401 RGD PMID:26738857|REF_RGD_ID:243048441 12072172 SLIT2 slit guidance ligand 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:735484 D RGD:9068941 20220825 MouseDO 12072219 TNFRSF18 TNF receptor superfamily member 18 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12072219 TNFRSF18 TNF receptor superfamily member 18 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604651 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12072219 TNFRSF18 TNF receptor superfamily member 18 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1604651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12072219 TNFRSF18 TNF receptor superfamily member 18 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1604651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12072219 TNFRSF18 TNF receptor superfamily member 18 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1604651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12072219 TNFRSF18 TNF receptor superfamily member 18 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1604651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12072219 TNFRSF18 TNF receptor superfamily member 18 gene DOID:0111934 immunodeficiency 38 ISO RGD:1604651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12072219 TNFRSF18 TNF receptor superfamily member 18 gene DOID:0111935 immunodeficiency 16 ISO RGD:1604651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12072219 TNFRSF18 TNF receptor superfamily member 18 gene DOID:11168 anogenital venereal wart ISO RGD:1604651 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 12072219 TNFRSF18 TNF receptor superfamily member 18 gene DOID:321 tropical spastic paraparesis ISO RGD:1604651 D RGD:9068941 20200831 RGD mRNA:decreased expression: T cell PMID:20945034|REF_RGD_ID:38549361 12072219 TNFRSF18 TNF receptor superfamily member 18 gene DOID:321 tropical spastic paraparesis disease_progression ISO RGD:1604651 D RGD:9068941 20200813 RGD PMID:28101786|REF_RGD_ID:38456004 12072219 TNFRSF18 TNF receptor superfamily member 18 gene DOID:630 genetic disease ISO RGD:1604651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072219 TNFRSF18 TNF receptor superfamily member 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12072219 TNFRSF18 TNF receptor superfamily member 18 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1604651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12072219 TNFRSF18 TNF receptor superfamily member 18 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1604651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12072219 TNFRSF18 TNF receptor superfamily member 18 gene DOID:9065 leishmaniasis ISO RGD:1604651 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20139272 12072231 CFAP46 cilia and flagella associated protein 46 gene DOID:0050545 visceral heterotaxy ISO RGD:1350822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Situs ambiguus 12072231 CFAP46 cilia and flagella associated protein 46 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1350822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12072231 CFAP46 cilia and flagella associated protein 46 gene DOID:630 genetic disease ISO RGD:1350822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072231 CFAP46 cilia and flagella associated protein 46 gene DOID:758 situs inversus ISO RGD:1350822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 12072290 TMEM167A transmembrane protein 167A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12072298 CADM3 cell adhesion molecule 3 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1315991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12072298 CADM3 cell adhesion molecule 3 gene DOID:10283 prostate cancer ISO RGD:1315991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12072298 CADM3 cell adhesion molecule 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1315991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12072298 CADM3 cell adhesion molecule 3 gene DOID:630 genetic disease ISO RGD:1315991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072298 CADM3 cell adhesion molecule 3 gene DOID:9001481 Charcot-Marie-Tooth Disease Axonal Type 2FF ISO RGD:1315991 D RGD:7240710 20210929 OMIM 12072298 CADM3 cell adhesion molecule 3 gene DOID:9001481 Charcot-Marie-Tooth Disease Axonal Type 2FF ISO RGD:1315991 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2FF PMID:25741868|PMID:33889941 12072298 CADM3 cell adhesion molecule 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12072315 CCDC160 coiled-coil domain containing 160 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:3379453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12072315 CCDC160 coiled-coil domain containing 160 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:3379453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency PMID:11018746|PMID:15571220|PMID:17027311|PMID:22157001|PMID:23975452|PMID:28492532|PMID:6087154 12072315 CCDC160 coiled-coil domain containing 160 gene DOID:12849 autistic disorder ISO RGD:3379453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12072315 CCDC160 coiled-coil domain containing 160 gene DOID:630 genetic disease ISO RGD:3379453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072321 AMTN amelotin gene DOID:0080243 amelogenesis imperfecta type 3B ISO RGD:1604908 D RGD:7240710 20190315 OMIM 12072321 AMTN amelotin gene DOID:630 genetic disease ISO RGD:1604908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072321 AMTN amelotin gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1604908 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12072330 DRAM1 DNA damage regulated autophagy modulator 1 gene DOID:630 genetic disease ISO RGD:1605066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072330 DRAM1 DNA damage regulated autophagy modulator 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12072349 SLAMF9 SLAM family member 9 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1314275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12072349 SLAMF9 SLAM family member 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1314275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12072349 SLAMF9 SLAM family member 9 gene DOID:630 genetic disease ISO RGD:1314275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072349 SLAMF9 SLAM family member 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12072349 SLAMF9 SLAM family member 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12072357 PLAC8L1 PLAC8 like 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1342779 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12072357 PLAC8L1 PLAC8 like 1 gene DOID:630 genetic disease ISO RGD:1342779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072357 PLAC8L1 PLAC8 like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12072357 PLAC8L1 PLAC8 like 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1342779 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12072367 MACROD2 mono-ADP ribosylhydrolase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1347920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12072367 MACROD2 mono-ADP ribosylhydrolase 2 gene DOID:0090093 hypogonadotropic hypogonadism 21 with or without anosmia ISO RGD:1347920 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 21 with or without anosmia PMID:23643382|PMID:25741868|PMID:28492532 12072367 MACROD2 mono-ADP ribosylhydrolase 2 gene DOID:12849 autistic disorder ISO RGD:1347920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12072367 MACROD2 mono-ADP ribosylhydrolase 2 gene DOID:13938 amenorrhea ISO RGD:1347920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 12072367 MACROD2 mono-ADP ribosylhydrolase 2 gene DOID:1923 disorder of sexual development ISO RGD:1347920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 12072367 MACROD2 mono-ADP ribosylhydrolase 2 gene DOID:303 substance-related disorder ISO RGD:1347920 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12072367 MACROD2 mono-ADP ribosylhydrolase 2 gene DOID:5419 schizophrenia ISO RGD:1347920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12072367 MACROD2 mono-ADP ribosylhydrolase 2 gene DOID:630 genetic disease ISO RGD:1347920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072367 MACROD2 mono-ADP ribosylhydrolase 2 gene DOID:9002189 High Myopia ISO RGD:1347920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12072367 MACROD2 mono-ADP ribosylhydrolase 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1347920 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27064257 12072396 MRPL15 mitochondrial ribosomal protein L15 gene DOID:0080600 COVID-19 ISO RGD:1312447 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12072396 MRPL15 mitochondrial ribosomal protein L15 gene DOID:630 genetic disease ISO RGD:1312447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072473 NWD1 NACHT and WD repeat domain containing 1 gene DOID:10283 prostate cancer ISO RGD:1604179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12072473 NWD1 NACHT and WD repeat domain containing 1 gene DOID:630 genetic disease ISO RGD:1604179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072504 PIGT phosphatidylinositol glycan anchor biosynthesis class T gene DOID:0060284 paroxysmal nocturnal hemoglobinuria ISO RGD:1316180 D RGD:9068941 20220728 CTD CTD Direct Evidence: marker/mechanism PMID:25417052 12072504 PIGT phosphatidylinositol glycan anchor biosynthesis class T gene DOID:0080140 multiple congenital anomalies-hypotonia-seizures syndrome 3 ISO RGD:1316180 D RGD:7240710 20180130 OMIM 12072504 PIGT phosphatidylinositol glycan anchor biosynthesis class T gene DOID:0080140 multiple congenital anomalies-hypotonia-seizures syndrome 3 ISO RGD:1316180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder PMID:16199547|PMID:23636107|PMID:24906948|PMID:25741868|PMID:25943031|PMID:27916860|PMID:28327575|PMID:28492532|PMID:28728837|PMID:30813157|PMID:30976099|PMID:32220244|PMID:32404165|PMID:32581362|PMID:32725661|PMID:34046058 12072504 PIGT phosphatidylinositol glycan anchor biosynthesis class T gene DOID:1826 epilepsy ISO RGD:1316180 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:27916860|PMID:30976099|PMID:32581362 12072504 PIGT phosphatidylinositol glycan anchor biosynthesis class T gene DOID:2234 focal epilepsy ISO RGD:1316180 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12072504 PIGT phosphatidylinositol glycan anchor biosynthesis class T gene DOID:630 genetic disease ISO RGD:1316180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25943031|PMID:27916860|PMID:28492532|PMID:30976099|PMID:32581362 12072504 PIGT phosphatidylinositol glycan anchor biosynthesis class T gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1316180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12072504 PIGT phosphatidylinositol glycan anchor biosynthesis class T gene DOID:9002189 High Myopia ISO RGD:1316180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532 12072504 PIGT phosphatidylinositol glycan anchor biosynthesis class T gene DOID:9004285 Paroxysmal Nocturnal Hemoglobinuria 1 ISO RGD:1316180 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1 PMID:25741868 12072504 PIGT phosphatidylinositol glycan anchor biosynthesis class T gene DOID:9008086 Developmental Disabilities ISO RGD:1316180 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:27916860|PMID:30976099|PMID:32581362 12072504 PIGT phosphatidylinositol glycan anchor biosynthesis class T gene DOID:9008263 Paroxysmal Nocturnal Hemoglobinuria 2 ISO RGD:1316180 D RGD:7240710 20180130 OMIM 12072504 PIGT phosphatidylinositol glycan anchor biosynthesis class T gene DOID:9008263 Paroxysmal Nocturnal Hemoglobinuria 2 ISO RGD:1316180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 2 PMID:23733340|PMID:25741868|PMID:28492532 12072520 CLEC14A C-type lectin domain containing 14A gene DOID:630 genetic disease ISO RGD:1603556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072520 CLEC14A C-type lectin domain containing 14A gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1603556 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12072547 CASP3 caspase 3 gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:2275 D RGD:9068941 20200609 RGD associated with gastric adenocarcinoma PMID:29588340|REF_RGD_ID:13792594 12072547 CASP3 caspase 3 gene DOID:0060108 brain glioma treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29324390|REF_RGD_ID:13792598 12072547 CASP3 caspase 3 gene DOID:0060186 chemical colitis treatment ISO RGD:10289 D RGD:9068941 20200609 RGD PMID:28740344|REF_RGD_ID:13782278 12072547 CASP3 caspase 3 gene DOID:0080855 Parkinsonism treatment ISO RGD:10289 D RGD:9068941 20200609 RGD PMID:28338241|REF_RGD_ID:13503338 12072547 CASP3 caspase 3 gene DOID:0080855 Parkinsonism treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:27016191|PMID:28881616|REF_RGD_ID:13503337|REF_RGD_ID:13503339 12072547 CASP3 caspase 3 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:18288275|REF_RGD_ID:2293324 12072547 CASP3 caspase 3 gene DOID:1002 endometritis treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:26920733|REF_RGD_ID:13782281 12072547 CASP3 caspase 3 gene DOID:10283 prostate cancer ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:18253123|REF_RGD_ID:2293304 12072547 CASP3 caspase 3 gene DOID:104 bacterial infectious disease ISO RGD:10289 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:16443785|REF_RGD_ID:2311430 12072547 CASP3 caspase 3 gene DOID:10534 stomach cancer ameliorates ISO RGD:731002 D RGD:9068941 20211029 RGD human cells in mouse model PMID:26432329|REF_RGD_ID:150520156 12072547 CASP3 caspase 3 gene DOID:10534 stomach cancer treatment ISO RGD:731002 D RGD:9068941 20210625 RGD human cells in mouse model PMID:29408335|PMID:32106377|REF_RGD_ID:127284846|REF_RGD_ID:127284886 12072547 CASP3 caspase 3 gene DOID:10652 Alzheimer's disease ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18077176 12072547 CASP3 caspase 3 gene DOID:10652 Alzheimer's disease ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:10319819|PMID:12633148|REF_RGD_ID:13782269|REF_RGD_ID:734692 12072547 CASP3 caspase 3 gene DOID:10652 Alzheimer's disease treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29587274|PMID:29642617|PMID:29777699|REF_RGD_ID:13782186|REF_RGD_ID:13782188|REF_RGD_ID:13782291 12072547 CASP3 caspase 3 gene DOID:10763 hypertension ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:27929425|REF_RGD_ID:13782308 12072547 CASP3 caspase 3 gene DOID:10763 hypertension treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:20065158|REF_RGD_ID:10053702 12072547 CASP3 caspase 3 gene DOID:10808 gastric ulcer treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29339218|REF_RGD_ID:13792597 12072547 CASP3 caspase 3 gene DOID:10854 salivary gland disease ISO RGD:10289 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased activity:submandibular gland, acinar cell PMID:19356238|REF_RGD_ID:2311442 12072547 CASP3 caspase 3 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:17267327|REF_RGD_ID:2298949 12072547 CASP3 caspase 3 gene DOID:11383 cryptorchidism ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29606031|REF_RGD_ID:13792609 12072547 CASP3 caspase 3 gene DOID:11383 cryptorchidism ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26050606 12072547 CASP3 caspase 3 gene DOID:114 heart disease ISO RGD:2275 D RGD:9068941 20200609 RGD associated with Multiple Trauma PMID:28825094|REF_RGD_ID:13782301 12072547 CASP3 caspase 3 gene DOID:11446 sciatic neuropathy ISO RGD:2275 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion PMID:29659443|REF_RGD_ID:13782273 12072547 CASP3 caspase 3 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:26431790|REF_RGD_ID:11537057 12072547 CASP3 caspase 3 gene DOID:11713 diabetic angiopathy ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 12072547 CASP3 caspase 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2275 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:18192848|REF_RGD_ID:2293330 12072547 CASP3 caspase 3 gene DOID:11996 spermatic cord torsion ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29250764|REF_RGD_ID:13782294 12072547 CASP3 caspase 3 gene DOID:12858 Huntington's disease ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:15668790|REF_RGD_ID:10413886 12072547 CASP3 caspase 3 gene DOID:12858 Huntington's disease treatment ISO RGD:10289 D RGD:9068941 20200609 RGD PMID:10888929|REF_RGD_ID:13432082 12072547 CASP3 caspase 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:26004897|REF_RGD_ID:13782348 12072547 CASP3 caspase 3 gene DOID:14330 Parkinson's disease treatment ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:16505307|REF_RGD_ID:13503345 12072547 CASP3 caspase 3 gene DOID:1612 breast cancer ISO RGD:731002 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:23979166|REF_RGD_ID:13209143 12072547 CASP3 caspase 3 gene DOID:1612 breast cancer severity ISO RGD:731002 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:18227733|REF_RGD_ID:2293092 12072547 CASP3 caspase 3 gene DOID:182 calcinosis ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12072547 CASP3 caspase 3 gene DOID:1824 status epilepticus ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16679645|PMID:18571097 12072547 CASP3 caspase 3 gene DOID:1824 status epilepticus treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:20214503|REF_RGD_ID:10054104 12072547 CASP3 caspase 3 gene DOID:1875 impotence treatment ISO RGD:2275 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21235725|REF_RGD_ID:10053666 12072547 CASP3 caspase 3 gene DOID:1936 atherosclerosis treatment ISO RGD:2275 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:29213335|REF_RGD_ID:13792600 12072547 CASP3 caspase 3 gene DOID:219 colon cancer ISO RGD:731002 D RGD:9068941 20200609 RGD protein:decreased expression:colon PMID:23979166|REF_RGD_ID:13209143 12072547 CASP3 caspase 3 gene DOID:219 colon cancer disease_progression ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:17805550|REF_RGD_ID:13209142 12072547 CASP3 caspase 3 gene DOID:224 transient cerebral ischemia ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:21712070|REF_RGD_ID:10053706 12072547 CASP3 caspase 3 gene DOID:2316 brain ischemia ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11756504|PMID:17901229 12072547 CASP3 caspase 3 gene DOID:2671 transitional cell carcinoma ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:18172282|REF_RGD_ID:2293093 12072547 CASP3 caspase 3 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:731002 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 12072547 CASP3 caspase 3 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:28496315|REF_RGD_ID:13782303 12072547 CASP3 caspase 3 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:2275 D RGD:9068941 20200609 RGD protein:increased activity:spinal cord PMID:16847061|REF_RGD_ID:2311466 12072547 CASP3 caspase 3 gene DOID:3459 breast carcinoma disease_progression ISO RGD:731002 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:12107344|REF_RGD_ID:2293309 12072547 CASP3 caspase 3 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:21891976|PMID:23143152|PMID:26868427|REF_RGD_ID:10053704|REF_RGD_ID:10054501|REF_RGD_ID:13782346 12072547 CASP3 caspase 3 gene DOID:3602 toxic encephalopathy ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21972528 12072547 CASP3 caspase 3 gene DOID:3669 intermittent claudication ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:23658678|REF_RGD_ID:9586024 12072547 CASP3 caspase 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:731002 D RGD:9068941 20200609 RGD DNA:SNP: :77G>A (human) PMID:20661084|REF_RGD_ID:13434908 12072547 CASP3 caspase 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:731002 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:16231180|REF_RGD_ID:13434909 12072547 CASP3 caspase 3 gene DOID:4079 heart valve disease ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12072547 CASP3 caspase 3 gene DOID:4362 cervical cancer ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:18177927|REF_RGD_ID:2298948 12072547 CASP3 caspase 3 gene DOID:4450 renal cell carcinoma ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:17513560|REF_RGD_ID:2293308 12072547 CASP3 caspase 3 gene DOID:4989 pancreatitis ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:16574987|REF_RGD_ID:2311467 12072547 CASP3 caspase 3 gene DOID:5082 liver cirrhosis ISO RGD:10289 D RGD:9068941 20200609 RGD associated with cholestasis PMID:29105510|REF_RGD_ID:13782297 12072547 CASP3 caspase 3 gene DOID:5199 ureteral obstruction treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29781318|REF_RGD_ID:13782341 12072547 CASP3 caspase 3 gene DOID:5295 intestinal disease ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:24228095|REF_RGD_ID:10058972 12072547 CASP3 caspase 3 gene DOID:5327 retinal detachment ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18497877 12072547 CASP3 caspase 3 gene DOID:5434 scrapie ISO RGD:10289 D RGD:9068941 20200609 RGD PMID:27921253|REF_RGD_ID:13782156 12072547 CASP3 caspase 3 gene DOID:557 kidney disease ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29257007|REF_RGD_ID:13782293 12072547 CASP3 caspase 3 gene DOID:5679 retinal disease ISO RGD:2275 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18836575|REF_RGD_ID:5490154 12072547 CASP3 caspase 3 gene DOID:5844 myocardial infarction ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25450231 12072547 CASP3 caspase 3 gene DOID:5844 myocardial infarction ameliorates ISO RGD:2275 D RGD:9068941 20230427 RGD PMID:28622474|REF_RGD_ID:329333030 12072547 CASP3 caspase 3 gene DOID:5844 myocardial infarction treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:27904666|REF_RGD_ID:13782309 12072547 CASP3 caspase 3 gene DOID:6000 congestive heart failure treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29746994|REF_RGD_ID:13792577 12072547 CASP3 caspase 3 gene DOID:630 genetic disease ISO RGD:731002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072547 CASP3 caspase 3 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2275 D RGD:9068941 20220714 RGD PMID:29133031|PMID:33841550|REF_RGD_ID:13782296|REF_RGD_ID:152998960 12072547 CASP3 caspase 3 gene DOID:7693 abdominal aortic aneurysm ISO RGD:2275 D RGD:9068941 20201002 RGD protein:increased expression:aorta (rat) PMID:15238617|REF_RGD_ID:1302825 12072547 CASP3 caspase 3 gene DOID:83 cataract treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:23508955|REF_RGD_ID:13782357 12072547 CASP3 caspase 3 gene DOID:8398 osteoarthritis treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29138829|REF_RGD_ID:13782343 12072547 CASP3 caspase 3 gene DOID:8577 ulcerative colitis ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24055189 12072547 CASP3 caspase 3 gene DOID:863 nervous system disease ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12196588 12072547 CASP3 caspase 3 gene DOID:8947 diabetic retinopathy ISO RGD:10289 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19013511|REF_RGD_ID:2311448 12072547 CASP3 caspase 3 gene DOID:8947 diabetic retinopathy ISO RGD:2275 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expresssion:retina PMID:19187597|REF_RGD_ID:2311444 12072547 CASP3 caspase 3 gene DOID:8947 diabetic retinopathy ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20654064 12072547 CASP3 caspase 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:18378144|PMID:21748659|REF_RGD_ID:10053608|REF_RGD_ID:2293322 12072547 CASP3 caspase 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14588118 12072547 CASP3 caspase 3 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:27256506|PMID:27339639|REF_RGD_ID:13782345|REF_RGD_ID:13792677 12072547 CASP3 caspase 3 gene DOID:9000197 Edema ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 12072547 CASP3 caspase 3 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24602480 12072547 CASP3 caspase 3 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:26163325|REF_RGD_ID:13782347 12072547 CASP3 caspase 3 gene DOID:9000469 Viral Myocarditis ISO RGD:10289 D RGD:9068941 20200609 RGD PMID:21055654|REF_RGD_ID:13702877 12072547 CASP3 caspase 3 gene DOID:9000469 Viral Myocarditis ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:24303754|REF_RGD_ID:13702873 12072547 CASP3 caspase 3 gene DOID:9000469 Viral Myocarditis treatment ISO RGD:10289 D RGD:9068941 20200609 RGD PMID:27184135|PMID:27693786|PMID:29556195|REF_RGD_ID:13702867|REF_RGD_ID:13702870|REF_RGD_ID:13702871 12072547 CASP3 caspase 3 gene DOID:9000469 Viral Myocarditis treatment ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:29977885|REF_RGD_ID:13702866 12072547 CASP3 caspase 3 gene DOID:9000808 Hypercholesterolemia ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:24484682|REF_RGD_ID:13782354 12072547 CASP3 caspase 3 gene DOID:9000855 Experimental Radiation Injuries treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:24939579|REF_RGD_ID:13782350 12072547 CASP3 caspase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731002 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:18064531|REF_RGD_ID:2293306 12072547 CASP3 caspase 3 gene DOID:9000998 Brain Injuries treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:20888848|REF_RGD_ID:10054247 12072547 CASP3 caspase 3 gene DOID:9001390 Testis Reperfusion Injury ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:26754107|REF_RGD_ID:11555349 12072547 CASP3 caspase 3 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2275 D RGD:9068941 20200609 RGD associated with Brain Injuries, Traumatic PMID:29061477|REF_RGD_ID:13782298 12072547 CASP3 caspase 3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2275 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased activity:kidney PMID:19601660|REF_RGD_ID:2311440 12072547 CASP3 caspase 3 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2275 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:29606028|REF_RGD_ID:13792586 12072547 CASP3 caspase 3 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2275 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:28456626|REF_RGD_ID:13782304 12072547 CASP3 caspase 3 gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:22932950|REF_RGD_ID:10054114 12072547 CASP3 caspase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:10289 D RGD:9068941 20200609 RGD PMID:18063461|REF_RGD_ID:2293307 12072547 CASP3 caspase 3 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:10289 D RGD:9068941 20200609 RGD PMID:23833961|REF_RGD_ID:13702874 12072547 CASP3 caspase 3 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:28903333|REF_RGD_ID:13702869 12072547 CASP3 caspase 3 gene DOID:9002467 Mycoplasma Infections ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20179380 12072547 CASP3 caspase 3 gene DOID:9002669 Hypoxia ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:18466900|REF_RGD_ID:2293315 12072547 CASP3 caspase 3 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17971790 12072547 CASP3 caspase 3 gene DOID:9002676 Cerebral Hemorrhage ameliorates ISO RGD:2275 D RGD:9068941 20230504 RGD PMID:31376096|REF_RGD_ID:329337378 12072547 CASP3 caspase 3 gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:28096675|REF_RGD_ID:13782306 12072547 CASP3 caspase 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2275 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:spinal cord PMID:18521931|REF_RGD_ID:2311436 12072547 CASP3 caspase 3 gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:10289 D RGD:9068941 20200609 RGD PMID:18366456|REF_RGD_ID:13209144 12072547 CASP3 caspase 3 gene DOID:9002955 Nerve Degeneration ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14999069 12072547 CASP3 caspase 3 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:23046993|REF_RGD_ID:13782359 12072547 CASP3 caspase 3 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2275 D RGD:9068941 20200609 RGD protein:increased activity:cerebral cortex, hippocampus PMID:18603371|REF_RGD_ID:2311455 12072547 CASP3 caspase 3 gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:2275 D RGD:9068941 20230128 RGD PMID:21189961|PMID:24089674|PMID:27216999|PMID:29635023|REF_RGD_ID:10054502|REF_RGD_ID:13782279|REF_RGD_ID:13782292|REF_RGD_ID:155882465 12072547 CASP3 caspase 3 gene DOID:9004009 Reperfusion Injury ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:18490106|REF_RGD_ID:2293311 12072547 CASP3 caspase 3 gene DOID:9004009 Reperfusion Injury ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23875703 12072547 CASP3 caspase 3 gene DOID:9004009 Reperfusion Injury treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29568770|REF_RGD_ID:13792595 12072547 CASP3 caspase 3 gene DOID:9004332 Osteoarthritis, Experimental treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29621761|REF_RGD_ID:13782275 12072547 CASP3 caspase 3 gene DOID:9004484 Sepsis ISO RGD:731002 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:16003065|PMID:32062619 12072547 CASP3 caspase 3 gene DOID:9004484 Sepsis treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29180187|REF_RGD_ID:13782295 12072547 CASP3 caspase 3 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:26238033|REF_RGD_ID:13782174 12072547 CASP3 caspase 3 gene DOID:9004610 Acute Lung Injury ISO RGD:731002 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:32062619 12072547 CASP3 caspase 3 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29755641|REF_RGD_ID:13782288 12072547 CASP3 caspase 3 gene DOID:9005020 Brain Contusion treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:28140659|REF_RGD_ID:13782305 12072547 CASP3 caspase 3 gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:20732338|REF_RGD_ID:10053708 12072547 CASP3 caspase 3 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:23404339|PMID:26699876|REF_RGD_ID:10053670|REF_RGD_ID:13782283 12072547 CASP3 caspase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2275 D RGD:9068941 20200609 RGD protein:increased activity:hypothalamus PMID:19094082|REF_RGD_ID:2311447 12072547 CASP3 caspase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20654064 12072547 CASP3 caspase 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:28843149|REF_RGD_ID:13782300 12072547 CASP3 caspase 3 gene DOID:9005666 Contrast-Induced Nephropathy treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:27781957|REF_RGD_ID:13782262 12072547 CASP3 caspase 3 gene DOID:9005930 Endotoxemia ISO RGD:2275 D RGD:9068941 20200609 RGD mRNA:increased expression:diaphragm PMID:23940949|REF_RGD_ID:10054120 12072547 CASP3 caspase 3 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:23151253|REF_RGD_ID:10054101 12072547 CASP3 caspase 3 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 12072547 CASP3 caspase 3 gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:23953793|REF_RGD_ID:10054119 12072547 CASP3 caspase 3 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:28992627|REF_RGD_ID:13782299 12072547 CASP3 caspase 3 gene DOID:9007096 Stroke ISO RGD:2275 D RGD:9068941 20200609 RGD protein:increased activation:cerebral cortex PMID:18463494|REF_RGD_ID:2293316 12072547 CASP3 caspase 3 gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:10289 D RGD:9068941 20230406 RGD associated with myocardial infarction PMID:25726944|REF_RGD_ID:11252030 12072547 CASP3 caspase 3 gene DOID:9007692 Insulin Resistance treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29748970|REF_RGD_ID:13782289 12072547 CASP3 caspase 3 gene DOID:9007730 Burns treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:22153006|REF_RGD_ID:10054126 12072547 CASP3 caspase 3 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:23946597|REF_RGD_ID:13782356 12072547 CASP3 caspase 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:18470603|REF_RGD_ID:2293314 12072547 CASP3 caspase 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14998631 12072547 CASP3 caspase 3 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:10289 D RGD:9068941 20230429 RGD PMID:30259997|REF_RGD_ID:329337366 12072547 CASP3 caspase 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29538428|REF_RGD_ID:13782276 12072547 CASP3 caspase 3 gene DOID:9008510 Chronic Hepatitis ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 12072547 CASP3 caspase 3 gene DOID:9351 diabetes mellitus ISO RGD:2275 D RGD:9068941 20201105 RGD protein:increased expression:ovary PMID:28412870|REF_RGD_ID:40400904 12072547 CASP3 caspase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15531508 12072547 CASP3 caspase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731002 D RGD:9068941 20200609 RGD protein:increased activity:pancreatic B cell PMID:19100955|REF_RGD_ID:2311446 12072547 CASP3 caspase 3 gene DOID:9408 acute myocardial infarction treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:26550220|REF_RGD_ID:13782284 12072547 CASP3 caspase 3 gene DOID:9743 diabetic neuropathy ISO RGD:2275 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expresssion:sciatic nerve PMID:19555701|REF_RGD_ID:2311441 12072547 CASP3 caspase 3 gene DOID:9743 diabetic neuropathy ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12502508 12072547 CASP3 caspase 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:2275 D RGD:9068941 20200609 RGD protein:increased activity:hippocampus PMID:15855338|REF_RGD_ID:2311451 12072560 RNF5 ring finger protein 5 gene DOID:0050553 JMP syndrome ISO RGD:1352556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12072560 RNF5 ring finger protein 5 gene DOID:630 genetic disease ISO RGD:1352556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072574 RTN4IP1 reticulon 4 interacting protein 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1348834 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 12072574 RTN4IP1 reticulon 4 interacting protein 1 gene DOID:0111434 optic atrophy 10 ISO RGD:1348834 D RGD:7240710 20180130 OMIM 12072574 RTN4IP1 reticulon 4 interacting protein 1 gene DOID:0111434 optic atrophy 10 ISO RGD:1348834 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures PMID:25741868|PMID:26593267|PMID:28492532|PMID:28638143|PMID:29181510 12072574 RTN4IP1 reticulon 4 interacting protein 1 gene DOID:0112117 combined oxidative phosphorylation deficiency 40 ISO RGD:1348834 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 40 PMID:25741868|PMID:28492532 12072574 RTN4IP1 reticulon 4 interacting protein 1 gene DOID:5723 optic atrophy ISO RGD:1348834 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868 12072574 RTN4IP1 reticulon 4 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1348834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:29181510|PMID:33841295|PMID:9536098 12072574 RTN4IP1 reticulon 4 interacting protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1348834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:33037779 12072587 SYT5 synaptotagmin 5 gene DOID:0110936 nemaline myopathy 5 ISO RGD:731962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5 PMID:28492532 12072587 SYT5 synaptotagmin 5 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12072587 SYT5 synaptotagmin 5 gene DOID:630 genetic disease ISO RGD:731962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072605 SNRPB2 small nuclear ribonucleoprotein polypeptide B2 gene DOID:14566 disease of cellular proliferation ISO RGD:1320950 D RGD:9068941 20200609 RGD mRNA:altered expression:multiple (human) PMID:18519667|REF_RGD_ID:10755689 12072605 SNRPB2 small nuclear ribonucleoprotein polypeptide B2 gene DOID:630 genetic disease ISO RGD:1320950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072605 SNRPB2 small nuclear ribonucleoprotein polypeptide B2 gene DOID:65 connective tissue disease ISO RGD:1320950 D RGD:9068941 20200609 RGD PMID:2968364|REF_RGD_ID:10448928 12072623 SPATA3 spermatogenesis associated 3 gene DOID:0060476 Perlman syndrome ISO RGD:1317781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12072623 SPATA3 spermatogenesis associated 3 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1317781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12072623 SPATA3 spermatogenesis associated 3 gene DOID:630 genetic disease ISO RGD:1317781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072631 SIRT4 sirtuin 4 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1310413 D RGD:9068941 20200609 RGD PMID:20651844|REF_RGD_ID:9586052 12072631 SIRT4 sirtuin 4 gene DOID:12932 endomyocardial fibrosis ISO RGD:1321303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27099261 12072631 SIRT4 sirtuin 4 gene DOID:630 genetic disease ISO RGD:1321303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072631 SIRT4 sirtuin 4 gene DOID:9001981 Weight Loss ISO RGD:1321303 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:35134463 12072631 SIRT4 sirtuin 4 gene DOID:9003936 Cardiomegaly ISO RGD:1321303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27099261 12072631 SIRT4 sirtuin 4 gene DOID:9007692 Insulin Resistance ISO RGD:1310413 D RGD:9068941 20200609 RGD PMID:20651844|REF_RGD_ID:9586052 12072655 GNPAT glyceronephosphate O-acyltransferase gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:733936 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 12072655 GNPAT glyceronephosphate O-acyltransferase gene DOID:0110852 rhizomelic chondrodysplasia punctata type 2 ISO RGD:733936 D RGD:7240710 20180130 OMIM 12072655 GNPAT glyceronephosphate O-acyltransferase gene DOID:0110852 rhizomelic chondrodysplasia punctata type 2 ISO RGD:733936 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 2 PMID:10972423|PMID:11152660|PMID:1152660|PMID:1405476|PMID:21990100|PMID:24033266|PMID:25741868|PMID:28492532|PMID:34229749|PMID:7530787|PMID:9536089|PMID:9843043 12072655 GNPAT glyceronephosphate O-acyltransferase gene DOID:0111675 neurooculocardiogenitourinary syndrome ISO RGD:733936 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurooculocardiogenitourinary syndrome PMID:25741868 12072655 GNPAT glyceronephosphate O-acyltransferase gene DOID:10283 prostate cancer ISO RGD:733936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12072655 GNPAT glyceronephosphate O-acyltransferase gene DOID:150 disease of mental health ISO RGD:733937 D RGD:9068941 20220825 MouseDO 12072655 GNPAT glyceronephosphate O-acyltransferase gene DOID:1540 parathyroid carcinoma ISO RGD:733936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12072655 GNPAT glyceronephosphate O-acyltransferase gene DOID:2580 rhizomelic chondrodysplasia punctata ISO RGD:733936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata PMID:25741868|PMID:28492532 12072655 GNPAT glyceronephosphate O-acyltransferase gene DOID:630 genetic disease ISO RGD:733936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12072655 GNPAT glyceronephosphate O-acyltransferase gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:733936 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 12072655 GNPAT glyceronephosphate O-acyltransferase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12072682 MTF2 metal response element binding transcription factor 2 gene DOID:630 genetic disease ISO RGD:1605093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072711 PARVB parvin beta gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1322969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12072711 PARVB parvin beta gene DOID:1059 intellectual disability ISO RGD:1322969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12072711 PARVB parvin beta gene DOID:630 genetic disease ISO RGD:1322969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072731 OR2T2 olfactory receptor family 2 subfamily T member 2 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1346426 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12072731 OR2T2 olfactory receptor family 2 subfamily T member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1346426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12072731 OR2T2 olfactory receptor family 2 subfamily T member 2 gene DOID:630 genetic disease ISO RGD:1346426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072731 OR2T2 olfactory receptor family 2 subfamily T member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12072734 EEPD1 endonuclease/exonuclease/phosphatase family domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12072734 EEPD1 endonuclease/exonuclease/phosphatase family domain containing 1 gene DOID:630 genetic disease ISO RGD:1606501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072745 GPR4 G protein-coupled receptor 4 gene DOID:630 genetic disease ISO RGD:1323148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072763 ZBTB32 zinc finger and BTB domain containing 32 gene DOID:0080600 COVID-19 ISO RGD:1604369 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12072763 ZBTB32 zinc finger and BTB domain containing 32 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1604369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12072763 ZBTB32 zinc finger and BTB domain containing 32 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1604369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12072763 ZBTB32 zinc finger and BTB domain containing 32 gene DOID:543 dystonia ISO RGD:1604369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12072763 ZBTB32 zinc finger and BTB domain containing 32 gene DOID:630 genetic disease ISO RGD:1604369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072790 AMH anti-Mullerian hormone gene DOID:0050791 persistent Mullerian duct syndrome ISO RGD:736161 D RGD:7240710 20180130 OMIM 12072790 AMH anti-Mullerian hormone gene DOID:0050791 persistent Mullerian duct syndrome ISO RGD:736161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type I PMID:11760020|PMID:1483695|PMID:1809231|PMID:2023927|PMID:24033266|PMID:2562843|PMID:25741868|PMID:28492532|PMID:28528332|PMID:30668521|PMID:30786001|PMID:31277073|PMID:31291191|PMID:32172781 12072790 AMH anti-Mullerian hormone gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:736161 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 12072790 AMH anti-Mullerian hormone gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:736161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12072790 AMH anti-Mullerian hormone gene DOID:11612 polycystic ovary syndrome ISO RGD:736161 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17224152|REF_RGD_ID:1601181 12072790 AMH anti-Mullerian hormone gene DOID:13501 Moebius syndrome ISO RGD:736161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum PMID:25741868 12072790 AMH anti-Mullerian hormone gene DOID:1612 breast cancer onset ISO RGD:736161 D RGD:9068941 20200609 RGD PMID:19820206|REF_RGD_ID:2315637 12072790 AMH anti-Mullerian hormone gene DOID:1923 disorder of sexual development susceptibility ISO RGD:736161 D RGD:9068941 20200609 RGD Persistent Mullerian Duct Syndrome type I, OMIM:261550;DNA:deletion, nonsense mutation:exon PMID:1483695|REF_RGD_ID:1601180 12072790 AMH anti-Mullerian hormone gene DOID:2999 granulosa cell tumor disease_progression ISO RGD:736161 D RGD:9068941 20200609 RGD PMID:19359032|REF_RGD_ID:2315639 12072790 AMH anti-Mullerian hormone gene DOID:4001 ovarian carcinoma treatment ISO RGD:736161 D RGD:9068941 20200626 RGD PMID:16533786|REF_RGD_ID:2315652 12072790 AMH anti-Mullerian hormone gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 12072790 AMH anti-Mullerian hormone gene DOID:630 genetic disease ISO RGD:736161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12072790 AMH anti-Mullerian hormone gene DOID:9002739 Female Urogenital Diseases ISO RGD:736161 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 12072790 AMH anti-Mullerian hormone gene DOID:9002762 Ovarian Neoplasms ISO RGD:736161 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary PMID:19424576|REF_RGD_ID:2315638 12072790 AMH anti-Mullerian hormone gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12072790 AMH anti-Mullerian hormone gene DOID:9970 obesity ISO RGD:736161 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17109858|REF_RGD_ID:1601182 12072799 KCTD14 potassium channel tetramerization domain containing 14 gene DOID:1059 intellectual disability ISO RGD:1315042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12072799 KCTD14 potassium channel tetramerization domain containing 14 gene DOID:630 genetic disease ISO RGD:1315042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072808 GPR18 G protein-coupled receptor 18 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1344300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 12072808 GPR18 G protein-coupled receptor 18 gene DOID:4621 holoprosencephaly ISO RGD:1344300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 12072808 GPR18 G protein-coupled receptor 18 gene DOID:630 genetic disease ISO RGD:1344300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072808 GPR18 G protein-coupled receptor 18 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1344300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12072815 GAS2L1 growth arrest specific 2 like 1 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1322543 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 12072815 GAS2L1 growth arrest specific 2 like 1 gene DOID:630 genetic disease ISO RGD:1322543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072815 GAS2L1 growth arrest specific 2 like 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1322543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 12072815 GAS2L1 growth arrest specific 2 like 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1322543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12072826 CPOX coproporphyrinogen oxidase gene DOID:13269 hereditary coproporphyria ISO RGD:1323470 D RGD:7240710 20180130 OMIM 12072826 CPOX coproporphyrinogen oxidase gene DOID:13269 hereditary coproporphyria ISO RGD:1323470 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary coproporphyria PMID:11309681|PMID:12181641|PMID:16159891|PMID:17576681|PMID:24078084|PMID:25741868|PMID:27959697|PMID:28492532|PMID:30385147|PMID:33763395|PMID:6886003|PMID:7757079|PMID:7987309|PMID:8286403|PMID:9454777|PMID:9536098|PMID:9888388 12072826 CPOX coproporphyrinogen oxidase gene DOID:3132 porphyria cutanea tarda ISO RGD:1323470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11831056 12072826 CPOX coproporphyrinogen oxidase gene DOID:3890 acute intermittent porphyria ISO RGD:1323470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute intermittent porphyria PMID:28492532 12072826 CPOX coproporphyrinogen oxidase gene DOID:409 liver disease susceptibility ISO RGD:1323470 D RGD:9068941 20200609 RGD Hereditary coproporphyria, OMIM:121300;DNA:transition: :p.G89S PMID:7849704|REF_RGD_ID:1600955 12072826 CPOX coproporphyrinogen oxidase gene DOID:630 genetic disease ISO RGD:1323470 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12072826 CPOX coproporphyrinogen oxidase gene DOID:9001983 Harderoporphyria ISO RGD:1323470 D RGD:7240710 20200805 OMIM 12072826 CPOX coproporphyrinogen oxidase gene DOID:9001983 Harderoporphyria ISO RGD:1323470 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Harderoporphyria PMID:16159891|PMID:21103937|PMID:24078084|PMID:25741868|PMID:28492532|PMID:6886003|PMID:7757079|PMID:7987309|PMID:8286403|PMID:9454777 12072826 CPOX coproporphyrinogen oxidase gene DOID:9002457 Experimental Arthritis ISO RGD:1311817 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:9173682|REF_RGD_ID:1600958 12072826 CPOX coproporphyrinogen oxidase gene DOID:9005584 Hepatic Porphyrias ISO RGD:1311817 D RGD:9068941 20200609 RGD protein:decreased activity:liver, mitochondrial inner membrane (rat) PMID:19482825|REF_RGD_ID:4144824 12072826 CPOX coproporphyrinogen oxidase gene DOID:9005794 Coproporphyria ISO RGD:1323470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coproporphyria | ClinVar Annotator: match by term: Coproporphyria, digenic PMID:11309681|PMID:12181641|PMID:12227458|PMID:16398658|PMID:25741868|PMID:27959697|PMID:28492532|PMID:33763395|PMID:7987309|PMID:8159699|PMID:8286403|PMID:8990017|PMID:9843038 12072836 PPP1R12B protein phosphatase 1 regulatory subunit 12B gene DOID:0050938 breast lobular carcinoma ISO RGD:1319551 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 12072836 PPP1R12B protein phosphatase 1 regulatory subunit 12B gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1319551 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12072836 PPP1R12B protein phosphatase 1 regulatory subunit 12B gene DOID:1540 parathyroid carcinoma ISO RGD:1319551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12072836 PPP1R12B protein phosphatase 1 regulatory subunit 12B gene DOID:630 genetic disease ISO RGD:1319551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072836 PPP1R12B protein phosphatase 1 regulatory subunit 12B gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1319551 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12072836 PPP1R12B protein phosphatase 1 regulatory subunit 12B gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1319551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 12072836 PPP1R12B protein phosphatase 1 regulatory subunit 12B gene DOID:9004872 Congenital Infantile Lactic Acidosis ISO RGD:1319551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital lactic acidosis 12072836 PPP1R12B protein phosphatase 1 regulatory subunit 12B gene DOID:9008939 Breast Neoplasms ISO RGD:1319551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 12072836 PPP1R12B protein phosphatase 1 regulatory subunit 12B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12072894 EIF2B2 eukaryotic translation initiation factor 2B subunit beta gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:731256 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:11704758|PMID:12707859|PMID:14566705|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15776425|PMID:18263758|PMID:20301435|PMID:21560189|PMID:22128017|PMID:22430157|PMID:22729508|PMID:22992991|PMID:24033266|PMID:25741868|PMID:26740508|PMID:27159321|PMID:28492532|PMID:29632131|PMID:29706645|PMID:30266093|PMID:31438897|PMID:33432707 12072894 EIF2B2 eukaryotic translation initiation factor 2B subunit beta gene DOID:0070276 hereditary nonpolyposis colorectal cancer type 7 ISO RGD:731256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 7 12072894 EIF2B2 eukaryotic translation initiation factor 2B subunit beta gene DOID:1059 intellectual disability ISO RGD:731256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12072894 EIF2B2 eukaryotic translation initiation factor 2B subunit beta gene DOID:10787 premature menopause ISO RGD:731256 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Premature menopause PMID:29706645 12072894 EIF2B2 eukaryotic translation initiation factor 2B subunit beta gene DOID:3883 Lynch syndrome ISO RGD:731256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25741868 12072894 EIF2B2 eukaryotic translation initiation factor 2B subunit beta gene DOID:5426 primary ovarian insufficiency ISO RGD:731256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:29706645 12072894 EIF2B2 eukaryotic translation initiation factor 2B subunit beta gene DOID:630 genetic disease ISO RGD:731256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14566705|PMID:15776425|PMID:18263758|PMID:21560189|PMID:22128017|PMID:22430157|PMID:24033266|PMID:25741868|PMID:27159321|PMID:28492532|PMID:30266093 12072894 EIF2B2 eukaryotic translation initiation factor 2B subunit beta gene DOID:9002009 Leukoencephalopathy with Vanishing White Matter 2 ISO RGD:731256 D RGD:7240710 20230505 OMIM 12072894 EIF2B2 eukaryotic translation initiation factor 2B subunit beta gene DOID:9002009 Leukoencephalopathy with Vanishing White Matter 2 ISO RGD:731256 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 2 PMID:11704758|PMID:12707859|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15776425|PMID:20301435|PMID:21484434|PMID:21560189|PMID:22729508|PMID:25031760|PMID:25741868|PMID:25843247|PMID:28041799|PMID:28492532|PMID:29700822|PMID:31438897|PMID:33432707 12072894 EIF2B2 eukaryotic translation initiation factor 2B subunit beta gene DOID:9002704 Leukoencephalopathies ISO RGD:731256 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CACH syndrome | ClinVar Annotator: match by term: CACH/VWM syndrome PMID:11704758|PMID:12707859|PMID:14566705|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15776425|PMID:18263758|PMID:20301435|PMID:21560189|PMID:22128017|PMID:22430157|PMID:22729508|PMID:22992991|PMID:24033266|PMID:25741868|PMID:26740508|PMID:27159321|PMID:28492532|PMID:29632131|PMID:29706645|PMID:30266093|PMID:31438897|PMID:33432707 12072894 EIF2B2 eukaryotic translation initiation factor 2B subunit beta gene DOID:9005348 Leukoencephalopathy with Vanishing White Matter 1 ISO RGD:731256 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1 PMID:11704758|PMID:12707859|PMID:14566705|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15776425|PMID:18263758|PMID:20301435|PMID:21560189|PMID:22128017|PMID:22430157|PMID:22729508|PMID:22992991|PMID:24033266|PMID:25741868|PMID:26740508|PMID:27159321|PMID:28492532|PMID:29632131|PMID:29706645|PMID:30266093|PMID:31438897|PMID:33432707 12072894 EIF2B2 eukaryotic translation initiation factor 2B subunit beta gene DOID:9006534 Nervous System Malformations ISO RGD:731256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:21484434|PMID:25031760|PMID:25741868|PMID:25843247|PMID:28041799|PMID:28492532|PMID:29700822 12072911 LOC491803 melanoma-associated antigen B1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12072911 LOC491803 melanoma-associated antigen B1 gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1350701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 12072911 LOC491803 melanoma-associated antigen B1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1350701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 12072911 LOC491803 melanoma-associated antigen B1 gene DOID:12849 autistic disorder ISO RGD:1350701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12072911 LOC491803 melanoma-associated antigen B1 gene DOID:630 genetic disease ISO RGD:1350701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12072911 LOC491803 melanoma-associated antigen B1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12072917 PEX14 peroxisomal biogenesis factor 14 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:68470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12072917 PEX14 peroxisomal biogenesis factor 14 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:68470 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12072917 PEX14 peroxisomal biogenesis factor 14 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:68470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15146459|PMID:18285423|PMID:20647552 12072917 PEX14 peroxisomal biogenesis factor 14 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:68470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) 12072917 PEX14 peroxisomal biogenesis factor 14 gene DOID:0080487 peroxisome biogenesis disorder 13A ISO RGD:68470 D RGD:7240710 20191002 OMIM 12072917 PEX14 peroxisomal biogenesis factor 14 gene DOID:0080487 peroxisome biogenesis disorder 13A ISO RGD:68470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 13A (Zellweger) PMID:15146459|PMID:18285423|PMID:25741868|PMID:28492532 12072917 PEX14 peroxisomal biogenesis factor 14 gene DOID:0111936 immunodeficiency 14 ISO RGD:68470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 12072917 PEX14 peroxisomal biogenesis factor 14 gene DOID:5119 ovarian cyst ISO RGD:68470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12072917 PEX14 peroxisomal biogenesis factor 14 gene DOID:630 genetic disease ISO RGD:68470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12072917 PEX14 peroxisomal biogenesis factor 14 gene DOID:9006158 Peroxisome Biogenesis Disorder, Complementation Group K ISO RGD:68470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K PMID:15146459|PMID:16199547|PMID:17576681|PMID:18285423|PMID:25640679|PMID:25741868|PMID:26627464|PMID:28492532|PMID:33547378|PMID:9536098 12072917 PEX14 peroxisomal biogenesis factor 14 gene DOID:905 Zellweger syndrome ISO RGD:68470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15146459|PMID:18285423 12072931 MAX MYC associated factor X gene DOID:0050771 pheochromocytoma ISO RGD:731306 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:25741868|PMID:26070438|PMID:26467025|PMID:27838885|PMID:28152038|PMID:28492532|PMID:34130653|PMID:7630640|PMID:9536098 12072931 MAX MYC associated factor X gene DOID:0050771 pheochromocytoma susceptibility ISO RGD:731306 D RGD:7240710 20230505 OMIM 12072931 MAX MYC associated factor X gene DOID:0050773 paraganglioma ISO RGD:731306 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28492532|PMID:7630640|PMID:9536098 12072931 MAX MYC associated factor X gene DOID:0050773 paraganglioma ISO RGD:731306 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28492532|PMID:28552549|PMID:30455982|PMID:34130653|PMID:34439168|PMID:7630640|PMID:9115440|PMID:9536098 12072931 MAX MYC associated factor X gene DOID:0050773 paraganglioma ISO RGD:731306 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28492532|PMID:28552549|PMID:30455982|PMID:34130653|PMID:34439168|PMID:7630640|PMID:9115440|PMID:9536098 12072931 MAX MYC associated factor X gene DOID:0050773 paraganglioma ISO RGD:731306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28384794|PMID:28492532|PMID:28552549|PMID:29909963|PMID:30455982|PMID:34130653|PMID:34439168|PMID:7630640|PMID:9115440|PMID:9536098 12072931 MAX MYC associated factor X gene DOID:2154 nephroblastoma ISO RGD:731306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 12072931 MAX MYC associated factor X gene DOID:5409 lung small cell carcinoma ISO RGD:731306 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:lung PMID:24362264|REF_RGD_ID:13793386 12072931 MAX MYC associated factor X gene DOID:768 retinoblastoma ISO RGD:731306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:25741868|PMID:28492532 12072931 MAX MYC associated factor X gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:731306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:21685915|PMID:22452945|PMID:25741868|PMID:26070438|PMID:26467025|PMID:28492532|PMID:34130653 12072931 MAX MYC associated factor X gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:731306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28384794|PMID:28492532|PMID:28552549|PMID:29909963|PMID:30455982|PMID:34130653|PMID:34439168|PMID:7630640|PMID:9115440|PMID:9536098 12072931 MAX MYC associated factor X gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731306 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:28152038|PMID:28492532|PMID:28552549|PMID:29264463|PMID:30455982|PMID:30877234|PMID:33367756|PMID:34130653|PMID:34169220|PMID:34439168|PMID:7630640|PMID:9115440|PMID:9536098 12072931 MAX MYC associated factor X gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:28152038|PMID:28492532|PMID:28552549|PMID:29264463|PMID:29909963|PMID:30455982|PMID:30877234|PMID:33367756|PMID:34130653|PMID:34169220|PMID:34439168|PMID:7630640|PMID:9115440|PMID:9536098 12072958 ELOVL5 ELOVL fatty acid elongase 5 gene DOID:0050985 spinocerebellar ataxia type 38 ISO RGD:1353049 D RGD:7240710 20180130 OMIM 12072958 ELOVL5 ELOVL fatty acid elongase 5 gene DOID:0050985 spinocerebellar ataxia type 38 ISO RGD:1353049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 38 PMID:25065913|PMID:25741868|PMID:28492532|PMID:31294938 12072958 ELOVL5 ELOVL fatty acid elongase 5 gene DOID:2661 myoepithelioma ISO RGD:1353049 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12072958 ELOVL5 ELOVL fatty acid elongase 5 gene DOID:630 genetic disease ISO RGD:1353049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12072958 ELOVL5 ELOVL fatty acid elongase 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12072958 ELOVL5 ELOVL fatty acid elongase 5 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1353049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12072973 LOC610384 NUT family member 2G gene DOID:9001440 Oculopharyngeal Myopathy with Leukoencephalopathy 1 ISO RGD:1346368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculopharyngeal myopathy with leukoencephalopathy 1 PMID:25741868 12072987 RABL2B RAB, member of RAS oncogene family like 2B gene DOID:0060041 autism spectrum disorder ISO RGD:1353591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984749|PMID:21984750|PMID:25255310 12072987 RABL2B RAB, member of RAS oncogene family like 2B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1353591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12072987 RABL2B RAB, member of RAS oncogene family like 2B gene DOID:1059 intellectual disability ISO RGD:1353591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31690835 12072987 RABL2B RAB, member of RAS oncogene family like 2B gene DOID:630 genetic disease ISO RGD:1353591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073110 MRGPRF MAS related GPR family member F gene DOID:1059 intellectual disability ISO RGD:1346995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12073110 MRGPRF MAS related GPR family member F gene DOID:630 genetic disease ISO RGD:1346995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073110 MRGPRF MAS related GPR family member F gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1346995 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12073110 MRGPRF MAS related GPR family member F gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1346995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12073129 CBLN1 cerebellin 1 precursor gene DOID:630 genetic disease ISO RGD:1348062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073136 LIN9 lin-9 DREAM MuvB core complex component gene DOID:1540 parathyroid carcinoma ISO RGD:1348970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12073136 LIN9 lin-9 DREAM MuvB core complex component gene DOID:630 genetic disease ISO RGD:1348970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073136 LIN9 lin-9 DREAM MuvB core complex component gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12073166 PDE6B phosphodiesterase 6B gene DOID:0050534 congenital stationary night blindness ISO RGD:1322283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant | ClinVar Annotator: match by term: Congenital stationary night blindness PMID:28492532|PMID:30718709 12073166 PDE6B phosphodiesterase 6B gene DOID:0050572 cone-rod dystrophy ISO RGD:1322283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:22334370|PMID:23105016|PMID:24828262|PMID:25525159|PMID:25741868|PMID:27588261|PMID:28492532|PMID:30718709|PMID:8394174|PMID:8595886|PMID:9238087 12073166 PDE6B phosphodiesterase 6B gene DOID:0110375 retinitis pigmentosa 40 IAGP D RGD:12801476 20210603 OMIA Rod-cone dysplasia 1a PMID:22065099|PMID:11124530 12073166 PDE6B phosphodiesterase 6B gene DOID:0110375 retinitis pigmentosa 40 IAGP D RGD:12801476 20220914 OMIA Rod-cone dysplasia 1 PMID:1081095|PMID:13059279|PMID:13081944|PMID:1323314|PMID:8387203|PMID:8002249|PMID:7796608|PMID:7724547|PMID:7474961|PMID:8544201|PMID:7409013|PMID:6295790|PMID:2895011|PMID:8261797|PMID:9135869|PMID:2558906|PMID:9987922|PMID:15876657|PMID:15580972|PMID:22065099|PMID:24367709|PMID:24581223|PMID:26857842|PMID:29263354|PMID:33432105|PMID:35604672|PMID:34954206 12073166 PDE6B phosphodiesterase 6B gene DOID:0110375 retinitis pigmentosa 40 ISO RGD:1322283 D RGD:7240710 20180130 OMIM 12073166 PDE6B phosphodiesterase 6B gene DOID:0110375 retinitis pigmentosa 40 ISO RGD:1322283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 40 PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18310263|PMID:18723146|PMID:18854872|PMID:20591486|PMID:21147909|PMID:21655355|PMID:22334370|PMID:24033266|PMID:25097241|PMID:25356976|PMID:25472526|PMID:25741868|PMID:25823529|PMID:25827439|PMID:26155838|PMID:26667666|PMID:26868535|PMID:26872967|PMID:27596865|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30718709|PMID:30924848|PMID:30998820|PMID:31054281|PMID:31630094|PMID:31877679|PMID:33090715|PMID:33673512|PMID:7599633|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9536098|PMID:9543643 12073166 PDE6B phosphodiesterase 6B gene DOID:0110863 congenital stationary night blindness autosomal dominant 2 ISO RGD:1322283 D RGD:7240710 20180130 OMIM 12073166 PDE6B phosphodiesterase 6B gene DOID:0110863 congenital stationary night blindness autosomal dominant 2 ISO RGD:1322283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 2 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, RAMBUSCH TYPE PMID:16199547|PMID:17044014|PMID:17576681|PMID:18723146|PMID:22334370|PMID:24033266|PMID:24938718|PMID:25097241|PMID:25472526|PMID:25741868|PMID:26667666|PMID:26868535|PMID:27588261|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:30029497|PMID:30718709|PMID:30924848|PMID:30998820|PMID:31877679|PMID:33576794|PMID:33691693|PMID:7724547|PMID:8075643|PMID:8394174|PMID:8595886|PMID:9536098 12073166 PDE6B phosphodiesterase 6B gene DOID:0111009 cone-rod dystrophy 1 IAGP D RGD:12801476 20230503 OMIA Cone-rod dystrophy 1 PMID:15064680|PMID:22065099|PMID:24045995|PMID:30050836 12073166 PDE6B phosphodiesterase 6B gene DOID:10283 prostate cancer ISO RGD:1322283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12073166 PDE6B phosphodiesterase 6B gene DOID:10584 retinitis pigmentosa ISO RGD:1322283 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24625443|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:25999674|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27588261|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30718709|PMID:30998820|PMID:33673512|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098 12073166 PDE6B phosphodiesterase 6B gene DOID:10584 retinitis pigmentosa ISO RGD:1322283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24625443|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:26155838|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27208204|PMID:27588261|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30646425|PMID:30718709|PMID:30820151|PMID:30998820|PMID:31630094|PMID:3203739|PMID:33090715|PMID:33576794|PMID:33673512|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098|PMID:9543643 12073166 PDE6B phosphodiesterase 6B gene DOID:10584 retinitis pigmentosa ISO RGD:1322283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24625443|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:26155838|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27208204|PMID:27588261|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30646425|PMID:30718709|PMID:30820151|PMID:30998820|PMID:31630094|PMID:3203739|PMID:32531858|PMID:33090715|PMID:33576794|PMID:33673512|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098|PMID:9543643 12073166 PDE6B phosphodiesterase 6B gene DOID:14791 Leber congenital amaurosis ISO RGD:1322283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:33673512 12073166 PDE6B phosphodiesterase 6B gene DOID:1856 cherubism ISO RGD:1322283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12073166 PDE6B phosphodiesterase 6B gene DOID:4448 macular degeneration ISO RGD:1322283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25741868 12073166 PDE6B phosphodiesterase 6B gene DOID:630 genetic disease ISO RGD:1322283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32531858 12073166 PDE6B phosphodiesterase 6B gene DOID:8466 retinal degeneration ISO RGD:1322283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123450|PMID:17213800|PMID:24586289|PMID:8692941 12073166 PDE6B phosphodiesterase 6B gene DOID:8466 retinal degeneration ISO RGD:1322284 D RGD:9068941 20220825 MouseDO 12073166 PDE6B phosphodiesterase 6B gene DOID:8501 fundus dystrophy ISO RGD:1322283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25525159|PMID:25741868|PMID:25823529|PMID:26355662|PMID:26766544|PMID:27208204|PMID:27353947|PMID:27588261|PMID:27898983|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29641573|PMID:30029497|PMID:30054919|PMID:30646425|PMID:30718709|PMID:30924848|PMID:30998820|PMID:31630094|PMID:3203739|PMID:33090715|PMID:33576794|PMID:33691693|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098 12073166 PDE6B phosphodiesterase 6B gene DOID:9002189 High Myopia ISO RGD:1322283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532 12073166 PDE6B phosphodiesterase 6B gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1322283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 12073166 PDE6B phosphodiesterase 6B gene DOID:9006205 Animal Disease Models ISO RGD:1322283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17213800 12073192 NPHP1 nephrocystin 1 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1317734 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis | ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16155189|PMID:16199547|PMID:17576681|PMID:17855640|PMID:23559409|PMID:23661369|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26499951|PMID:26920127|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:30108342|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524 12073192 NPHP1 nephrocystin 1 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1317734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis | ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16155189|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:23559409|PMID:23661369|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26499951|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:30108342|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524 12073192 NPHP1 nephrocystin 1 gene DOID:0050777 Joubert syndrome ISO RGD:1317734 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:23559409|PMID:28002029|PMID:28492532|PMID:34090716 12073192 NPHP1 nephrocystin 1 gene DOID:0050795 cone dystrophy ISO RGD:1317734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:28041643 12073192 NPHP1 nephrocystin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1317734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:24807792|PMID:25255310 12073192 NPHP1 nephrocystin 1 gene DOID:0080205 CAKUT ISO RGD:1317734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:30143558 12073192 NPHP1 nephrocystin 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1317734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 PMID:24746959|PMID:25741868|PMID:28492532 12073192 NPHP1 nephrocystin 1 gene DOID:0110999 Joubert syndrome 4 ISO RGD:1317734 D RGD:7240710 20180130 OMIM 12073192 NPHP1 nephrocystin 1 gene DOID:0110999 Joubert syndrome 4 ISO RGD:1317734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 4 PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16155189|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:23559409|PMID:23661369|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:30108342|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524 12073192 NPHP1 nephrocystin 1 gene DOID:0111112 nephronophthisis 1 ISO RGD:1317734 D RGD:7240710 20180130 OMIM 12073192 NPHP1 nephrocystin 1 gene DOID:0111112 nephronophthisis 1 ISO RGD:1317734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: Nephronophthisis familial juvenile | ClinVar Annotator: match by term: juvenile nephronophthisis PMID:10620543|PMID:10712196|PMID:10839884|PMID:10980528|PMID:11168925|PMID:15138899|PMID:16155189|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:23559409|PMID:23661369|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:31822006|PMID:33193692|PMID:33532864|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524 12073192 NPHP1 nephrocystin 1 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1317734 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:25741868|PMID:28492532 12073192 NPHP1 nephrocystin 1 gene DOID:12712 nephronophthisis ISO RGD:1317734 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:10620543|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:23559409|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26673778|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30773290|PMID:8852662|PMID:9326933|PMID:9536098 12073192 NPHP1 nephrocystin 1 gene DOID:12712 nephronophthisis ISO RGD:1317734 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10620543|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:23559409|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26673778|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30773290|PMID:8852662|PMID:9326933|PMID:9536098 12073192 NPHP1 nephrocystin 1 gene DOID:12712 nephronophthisis ISO RGD:1317734 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10620543|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:23559409|PMID:23661369|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098 12073192 NPHP1 nephrocystin 1 gene DOID:12712 nephronophthisis ISO RGD:1317734 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10620543|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:23559409|PMID:23661369|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098 12073192 NPHP1 nephrocystin 1 gene DOID:12712 nephronophthisis ISO RGD:1317734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10620543|PMID:10712196|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16155189|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:19755384|PMID:23559409|PMID:23661369|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28002029|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:31822006|PMID:32173348|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524 12073192 NPHP1 nephrocystin 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1317734 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:25741868|PMID:28492532 12073192 NPHP1 nephrocystin 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1317734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:10839884|PMID:15138899|PMID:25741868|PMID:28492532 12073192 NPHP1 nephrocystin 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1316858|RGD:732435|RGD:1319511|RGD:1603660 D RGD:9068941 20200609 RGD PMID:24746959|REF_RGD_ID:11352646 12073192 NPHP1 nephrocystin 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605944 D RGD:9068941 20200609 RGD PMID:24746959|REF_RGD_ID:11352646 12073192 NPHP1 nephrocystin 1 gene DOID:557 kidney disease ISO RGD:1317734 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 12073192 NPHP1 nephrocystin 1 gene DOID:630 genetic disease ISO RGD:1317734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16762963|PMID:18076122|PMID:23559409|PMID:23661369|PMID:24033266|PMID:25268133|PMID:25741868|PMID:26499951|PMID:26920127|PMID:27491411|PMID:28492532|PMID:28624958|PMID:30773290|PMID:31822006|PMID:33193692 12073192 NPHP1 nephrocystin 1 gene DOID:9002789 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE ISO RGD:1317734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE PMID:24746959|PMID:25741868|PMID:28492532 12073192 NPHP1 nephrocystin 1 gene DOID:9004365 Senior-Loken Syndrome 1 ISO RGD:1317734 D RGD:7240710 20190327 OMIM 12073192 NPHP1 nephrocystin 1 gene DOID:9004365 Senior-Loken Syndrome 1 ISO RGD:1317734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 1 PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16155189|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:23559409|PMID:23661369|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26499951|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:30108342|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:0060074 ductal carcinoma in situ ISO RGD:730833 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:12888825|REF_RGD_ID:2298909 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:1824 status epilepticus ISO RGD:621087 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:14614901|REF_RGD_ID:1625688 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:1936 atherosclerosis ISO RGD:730833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19330073 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:3008 invasive ductal carcinoma ISO RGD:730833 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:12888825|REF_RGD_ID:2298909 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:409 liver disease ISO RGD:730833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:4947 cholangiocarcinoma severity ISO RGD:730833 D RGD:9068941 20220128 RGD protein:decreased expression:bile duct (human) PMID:26485275|REF_RGD_ID:11250478 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:730833 D RGD:9068941 20200609 RGD mRNA:decreased expression:uterine cervix PMID:16878360|REF_RGD_ID:2298904 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:630 genetic disease ISO RGD:730833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:684 hepatocellular carcinoma ISO RGD:730833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16831601 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:730833 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:18097573|REF_RGD_ID:2298901 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:9000099 Experimental Colitis treatment ISO RGD:621087 D RGD:9068941 20220623 RGD PMID:29572553|REF_RGD_ID:152995414 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:9000784 Fibrosis ISO RGD:621087 D RGD:9068941 20200609 RGD PMID:16012948|REF_RGD_ID:1625686 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:9002457 Experimental Arthritis ISO RGD:621087 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell PMID:16507131|REF_RGD_ID:1625684 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:9004009 Reperfusion Injury ISO RGD:621087 D RGD:9068941 20200609 RGD associated with Brain Ischemia;mRNA, protein:increased expression:cerebral cortex PMID:12437578|REF_RGD_ID:632385 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:9004484 Sepsis ISO RGD:621087 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11312157|REF_RGD_ID:634751 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:9004484 Sepsis ISO RGD:621087 D RGD:9068941 20200609 RGD protein:increased expression:gastrocnemius PMID:12644450|REF_RGD_ID:2298924 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730834 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:18381452|REF_RGD_ID:2298899 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621087 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina PMID:18356406|REF_RGD_ID:2298911 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:9005643 Experimental Diabetes Mellitus susceptibility ISO RGD:730834 D RGD:9068941 20200609 RGD PMID:17562326|REF_RGD_ID:2313787 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:9005930 Endotoxemia ISO RGD:621087 D RGD:9068941 20200609 RGD PMID:12217886|REF_RGD_ID:625688 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:9005930 Endotoxemia ISO RGD:730834 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, skeletal muscle PMID:15169905|REF_RGD_ID:2298923 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:9006599 Hypertriglyceridemia ISO RGD:730834 D RGD:9068941 20200609 RGD associated with Obesity PMID:15240880|REF_RGD_ID:1625677 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:730833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:9007692 Insulin Resistance ISO RGD:730834 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:15240880|REF_RGD_ID:1625677 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:730834 D RGD:9068941 20200609 RGD associated with Obesity PMID:17295835|REF_RGD_ID:2313789 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:730833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16804899 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:9007730 Burns ISO RGD:621087 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hepatocyte PMID:12392283|REF_RGD_ID:730264 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:9008114 Helicobacter Infections ISO RGD:621087 D RGD:9068941 20200609 RGD mRNA, protein:increased expression PMID:17405912|REF_RGD_ID:1625683 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730833 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:15331532|REF_RGD_ID:2313790 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730834 D RGD:9068941 20200609 RGD PMID:17513737|REF_RGD_ID:2313788 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:621087 D RGD:9068941 20200609 RGD PMID:29110587|REF_RGD_ID:13506806 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:9452 fatty liver disease ISO RGD:730834 D RGD:9068941 20200609 RGD associated with Obesity PMID:15240880|REF_RGD_ID:1625677 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:9970 obesity ISO RGD:621087 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:white fat PMID:11027633|REF_RGD_ID:2298920 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:9970 obesity ISO RGD:730833 D RGD:9068941 20200609 RGD mRNA:altered expression:skeletal muscle, subcutaneous adipose tissue PMID:15331532|REF_RGD_ID:2313790 12073221 SOCS3 suppressor of cytokine signaling 3 gene DOID:9970 obesity ISO RGD:730833 D RGD:9068941 20200609 RGD mRNA:decreased expression:subcutaneous adipose tissue PMID:16920065|REF_RGD_ID:1625676 12073224 GABPB2 GA binding protein transcription factor subunit beta 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1602655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12073224 GABPB2 GA binding protein transcription factor subunit beta 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1602655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12073224 GABPB2 GA binding protein transcription factor subunit beta 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1602655 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12073224 GABPB2 GA binding protein transcription factor subunit beta 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1602655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12073224 GABPB2 GA binding protein transcription factor subunit beta 2 gene DOID:5812 MHC class II deficiency ISO RGD:1602655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12073224 GABPB2 GA binding protein transcription factor subunit beta 2 gene DOID:630 genetic disease ISO RGD:1602655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073224 GABPB2 GA binding protein transcription factor subunit beta 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12073247 NUP98 nucleoporin 98 and 96 precursor gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12073247 NUP98 nucleoporin 98 and 96 precursor gene DOID:0080773 delta beta-thalassemia ISO RGD:733793 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12073247 NUP98 nucleoporin 98 and 96 precursor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12073247 NUP98 nucleoporin 98 and 96 precursor gene DOID:10487 Hirschsprung's disease ISO RGD:733793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 12073247 NUP98 nucleoporin 98 and 96 precursor gene DOID:1227 neutropenia ISO RGD:733793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 12073247 NUP98 nucleoporin 98 and 96 precursor gene DOID:2355 anemia ISO RGD:733793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 12073247 NUP98 nucleoporin 98 and 96 precursor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:733793 D RGD:9068941 20200609 RGD DNA:translocation:cds: (human) PMID:10477737|REF_RGD_ID:9693698 12073247 NUP98 nucleoporin 98 and 96 precursor gene DOID:614 lymphopenia ISO RGD:733793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 12073247 NUP98 nucleoporin 98 and 96 precursor gene DOID:630 genetic disease ISO RGD:733793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073247 NUP98 nucleoporin 98 and 96 precursor gene DOID:9000647 Acute Erythroleukemia ISO RGD:733793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 12073247 NUP98 nucleoporin 98 and 96 precursor gene DOID:9119 acute myeloid leukemia ISO RGD:733793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21441929 12073295 PDCD6IP programmed cell death 6 interacting protein gene DOID:630 genetic disease ISO RGD:68505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073295 PDCD6IP programmed cell death 6 interacting protein gene DOID:8398 osteoarthritis ISO RGD:68505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12073295 PDCD6IP programmed cell death 6 interacting protein gene DOID:9003562 Primary Autosomal Recessive Microcephaly 29 ISO RGD:68505 D RGD:7240710 20221012 OMIM 12073319 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1317663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12073319 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:0110170 Charcot-Marie-Tooth disease axonal type 2Q ISO RGD:1317663 D RGD:7240710 20180130 OMIM 12073319 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:0110170 Charcot-Marie-Tooth disease axonal type 2Q ISO RGD:1317663 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2Q PMID:16199547|PMID:23141293|PMID:23141294|PMID:25326637|PMID:25741868|PMID:25860818|PMID:28492532|PMID:29669943 12073319 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:0111453 2-aminoadipic 2-oxoadipic aciduria ISO RGD:1317663 D RGD:7240710 20180130 OMIM 12073319 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:0111453 2-aminoadipic 2-oxoadipic aciduria ISO RGD:1317663 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: 2-KETOADIPIC ACIDURIA | ClinVar Annotator: match by term: 2-aminoadipic 2-oxoadipic aciduria PMID:16199547|PMID:17576681|PMID:23141293|PMID:25326637|PMID:25640679|PMID:25741868|PMID:25860818|PMID:26141459|PMID:27582484|PMID:28454995|PMID:28492532|PMID:29127259|PMID:29669943|PMID:29752936|PMID:29858556|PMID:30896807|PMID:32005694|PMID:32160276|PMID:32303640|PMID:32695416|PMID:32860008|PMID:33369814|PMID:34169998|PMID:8069629|PMID:9536098 12073319 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:1184 nephrotic syndrome ISO RGD:1317663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:28492532|PMID:29127259 12073319 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:574 peripheral nervous system disease ISO RGD:1317663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 12073319 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:630 genetic disease ISO RGD:1317663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23141293|PMID:25326637|PMID:25741868|PMID:25860818|PMID:26141459|PMID:27582484|PMID:28454995|PMID:28492532|PMID:29752936|PMID:29858556|PMID:32160276|PMID:32303640|PMID:32695416|PMID:32860008|PMID:33369814|PMID:8069629|PMID:9536098 12073319 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:870 neuropathy ISO RGD:1317663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 12073319 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317663 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12073341 TMEM45A transmembrane protein 45A gene DOID:0080600 COVID-19 ISO RGD:1344791 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12073341 TMEM45A transmembrane protein 45A gene DOID:630 genetic disease ISO RGD:1344791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073341 TMEM45A transmembrane protein 45A gene DOID:9005172 Lung Neoplasms ISO RGD:1344791 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12073366 CLPTM1L CLPTM1 like gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP: :rs402710(human) PMID:28025427|REF_RGD_ID:150530487 12073366 CLPTM1L CLPTM1 like gene DOID:0050921 pharynx squamous cell carcinoma sexual_dimorphism ISO RGD:1605932 D RGD:9068941 20211224 RGD in males;DNA:SNP: :rs401681(human) PMID:31429604|REF_RGD_ID:150530637 12073366 CLPTM1L CLPTM1 like gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1605932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 12073366 CLPTM1L CLPTM1 like gene DOID:10283 prostate cancer ISO RGD:1605932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12073366 CLPTM1L CLPTM1 like gene DOID:1037 lymphoid leukemia ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24292274 12073366 CLPTM1L CLPTM1 like gene DOID:11054 urinary bladder cancer ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 12073366 CLPTM1L CLPTM1 like gene DOID:1324 lung cancer ISO RGD:1550157 D RGD:9068941 20211217 RGD PMID:24366883|REF_RGD_ID:150530483 12073366 CLPTM1L CLPTM1 like gene DOID:1324 lung cancer disease_progression ISO RGD:1605932 D RGD:9068941 20211224 RGD PMID:27062701|REF_RGD_ID:150537097 12073366 CLPTM1L CLPTM1 like gene DOID:1324 lung cancer sexual_dimorphism ISO RGD:1605932 D RGD:9068941 20211224 RGD in males;DNA:SNP: :rs370348(human) PMID:21771723|REF_RGD_ID:150530643 12073366 CLPTM1L CLPTM1 like gene DOID:1324 lung cancer susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNPs:: rs402710,rs451360 (human) PMID:25526467|REF_RGD_ID:150530494 12073366 CLPTM1L CLPTM1 like gene DOID:1324 lung cancer susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNPs::multiple (human) PMID:26852039|REF_RGD_ID:150530484 12073366 CLPTM1L CLPTM1 like gene DOID:1324 lung cancer susceptibility ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP:intron:rs31489(human) PMID:25422207|REF_RGD_ID:150530631 12073366 CLPTM1L CLPTM1 like gene DOID:1324 lung cancer susceptibility ISO RGD:1605932 D RGD:9068941 20211224 RGD associated with smoking; DNA:SNP:intron:rs31489(human) PMID:21622582|REF_RGD_ID:150530642 12073366 CLPTM1L CLPTM1 like gene DOID:2513 basal cell carcinoma ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 12073366 CLPTM1L CLPTM1 like gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1605932 D RGD:9068941 20211217 RGD mRNA:increased expression:esophagus PMID:25480402|REF_RGD_ID:150530497 12073366 CLPTM1L CLPTM1 like gene DOID:3748 esophagus squamous cell carcinoma no_association ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP: :rs401681(human) PMID:24386361|REF_RGD_ID:150537098 12073366 CLPTM1L CLPTM1 like gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP: :rs401681(human) PMID:25007268|REF_RGD_ID:150530488 12073366 CLPTM1L CLPTM1 like gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP: :rs451360(human) PMID:26716642|REF_RGD_ID:11572962 12073366 CLPTM1L CLPTM1 like gene DOID:3907 lung squamous cell carcinoma ISO RGD:1605932 D RGD:9068941 20211217 RGD mRNA:increased expression:lung PMID:24366883|REF_RGD_ID:150530483 12073366 CLPTM1L CLPTM1 like gene DOID:3907 lung squamous cell carcinoma no_association ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP::rs401681(human) PMID:24861918|REF_RGD_ID:150530499 12073366 CLPTM1L CLPTM1 like gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP:: rs31490(human) PMID:23908149|REF_RGD_ID:150530498 12073366 CLPTM1L CLPTM1 like gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP: :rs401681(human) PMID:24386361|REF_RGD_ID:150537098 12073366 CLPTM1L CLPTM1 like gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22675468 12073366 CLPTM1L CLPTM1 like gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNPs: :rs4975616,rs401681(human) PMID:24679952|REF_RGD_ID:150530644 12073366 CLPTM1L CLPTM1 like gene DOID:3908 lung non-small cell carcinoma no_association ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNPs:: rs401681,rs4975616(human) PMID:24175795|REF_RGD_ID:150530500 12073366 CLPTM1L CLPTM1 like gene DOID:3908 lung non-small cell carcinoma no_association ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP: :rs31490(human) PMID:27982019|REF_RGD_ID:150530632 12073366 CLPTM1L CLPTM1 like gene DOID:3910 lung adenocarcinoma ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22675468 12073366 CLPTM1L CLPTM1 like gene DOID:3910 lung adenocarcinoma ISO RGD:1605932 D RGD:9068941 20211217 RGD mRNA:increased expression:lung PMID:24366883|REF_RGD_ID:150530483 12073366 CLPTM1L CLPTM1 like gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1605932 D RGD:9068941 20211217 RGD PMID:24366883|REF_RGD_ID:150530483 12073366 CLPTM1L CLPTM1 like gene DOID:3910 lung adenocarcinoma no_association ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP::rs401681(human) PMID:24861918|REF_RGD_ID:150530499 12073366 CLPTM1L CLPTM1 like gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP:: rs31490(human) PMID:23908149|REF_RGD_ID:150530498 12073366 CLPTM1L CLPTM1 like gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP:: rs4975616(human) PMID:19955392|REF_RGD_ID:150530502 12073366 CLPTM1L CLPTM1 like gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP: :rs401681(human) PMID:23738012|PMID:24386361|REF_RGD_ID:150530485|REF_RGD_ID:150537098 12073366 CLPTM1L CLPTM1 like gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP::rs77518573(human) PMID:31935503|REF_RGD_ID:150530635 12073366 CLPTM1L CLPTM1 like gene DOID:4948 gallbladder carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP, haplotype: :rs401681(human) PMID:29450669|REF_RGD_ID:150530629 12073366 CLPTM1L CLPTM1 like gene DOID:630 genetic disease ISO RGD:1605932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073366 CLPTM1L CLPTM1 like gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP: :rs401681(human) PMID:29042796|REF_RGD_ID:150537100 12073366 CLPTM1L CLPTM1 like gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNPs::rs401681(human) PMID:25339005|REF_RGD_ID:150530496 12073366 CLPTM1L CLPTM1 like gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605932 D RGD:9068941 20211217 RGD associated with esophagus squamous cell carcinoma; mRNA:increased expression:esophagus PMID:25480402|REF_RGD_ID:150530497 12073366 CLPTM1L CLPTM1 like gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 12073366 CLPTM1L CLPTM1 like gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 12073366 CLPTM1L CLPTM1 like gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1605932 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 12073366 CLPTM1L CLPTM1 like gene DOID:9005172 Lung Neoplasms ISO RGD:1605932 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:18978787|PMID:19151717|PMID:23433592|PMID:24366883 12073366 CLPTM1L CLPTM1 like gene DOID:9007364 Mouth Neoplasms ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27749845 12073366 CLPTM1L CLPTM1 like gene DOID:9261 nasopharynx carcinoma ISO RGD:1605932 D RGD:9068941 20211217 RGD protein:increased expression:nasopharynx PMID:26621837|REF_RGD_ID:11564613 12073366 CLPTM1L CLPTM1 like gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP: :rs401681(human) PMID:26621837|REF_RGD_ID:11564613 12073366 CLPTM1L CLPTM1 like gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP:intron:rs31489(human) PMID:26545403|REF_RGD_ID:11556976 12073366 CLPTM1L CLPTM1 like gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP:intron:rs31489(human) PMID:31270100|REF_RGD_ID:150537099 12073366 CLPTM1L CLPTM1 like gene DOID:9675 pulmonary emphysema severity ISO RGD:1605932 D RGD:9068941 20211224 RGD associated with smoking; DNA:SNP:intron:rs31489(human) PMID:21622582|REF_RGD_ID:150530642 12073387 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:0050753 cerebellar ataxia ISO RGD:1346872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 12073387 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:0050777 Joubert syndrome ISO RGD:1346872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12073387 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1346872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12073387 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1346872 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12073387 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1346872 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12073387 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12073387 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:0080061 autosomal recessive spinocerebellar ataxia 2 ISO RGD:1346872 D RGD:7240710 20180130 OMIM 12073387 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:0080061 autosomal recessive spinocerebellar ataxia 2 ISO RGD:1346872 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2 PMID:10528257|PMID:25741868|PMID:25808372|PMID:26657514|PMID:28492532 12073387 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1346872 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12073387 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1346872 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12073387 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:0081097 Rafiq syndrome ISO RGD:1346872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12073387 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1346872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12073387 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:1572 normal pressure hydrocephalus ISO RGD:1346872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Normal pressure hydrocephalus PMID:10528257|PMID:25808372 12073387 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:3652 Leigh disease ISO RGD:1346872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12073387 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:630 genetic disease ISO RGD:1346872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25808372|PMID:26657514|PMID:27148589 12073387 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:9005249 Immunodeficiency 103 ISO RGD:1346872 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS PMID:28492532 12073387 PMPCA peptidase, mitochondrial processing subunit alpha gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1346872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 12073407 FSHR follicle stimulating hormone receptor gene DOID:0080493 ovarian dysgenesis 1 ISO RGD:735571 D RGD:7240710 20180130 OMIM 12073407 FSHR follicle stimulating hormone receptor gene DOID:0080493 ovarian dysgenesis 1 ISO RGD:735571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 1 PMID:10022448|PMID:10551778|PMID:11036902|PMID:11213123|PMID:11754099|PMID:11889179|PMID:12571157|PMID:15249125|PMID:15579795|PMID:15886248|PMID:16084888|PMID:16864747|PMID:17826728|PMID:18159088|PMID:19172541|PMID:19400992|PMID:20087398|PMID:20237833|PMID:21752882|PMID:22401810|PMID:23419799|PMID:25741868|PMID:28492532|PMID:29157895|PMID:30691934|PMID:31830376|PMID:7553856|PMID:8178824|PMID:9020851|PMID:9769327|PMID:9851774 12073407 FSHR follicle stimulating hormone receptor gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:735571 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 12073407 FSHR follicle stimulating hormone receptor gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:735571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:22617343|PMID:28492532 12073407 FSHR follicle stimulating hormone receptor gene DOID:11612 polycystic ovary syndrome ISO RGD:735571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22885925 12073407 FSHR follicle stimulating hormone receptor gene DOID:13938 amenorrhea ISO RGD:735571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:25741868 12073407 FSHR follicle stimulating hormone receptor gene DOID:14450 46 XX gonadal dysgenesis ISO RGD:735571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 12073407 FSHR follicle stimulating hormone receptor gene DOID:2999 granulosa cell tumor ISO RGD:735571 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01) PMID:11994539|REF_RGD_ID:2289157 12073407 FSHR follicle stimulating hormone receptor gene DOID:5425 ovarian hyperstimulation syndrome ISO RGD:735571 D RGD:7240710 20180130 OMIM 12073407 FSHR follicle stimulating hormone receptor gene DOID:5425 ovarian hyperstimulation syndrome ISO RGD:735571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian hyperstimulation syndrome | ClinVar Annotator: match by term: Ovarian response to FSH stimulation PMID:10022448|PMID:11036902|PMID:11213123|PMID:12930928|PMID:15080154|PMID:15249125|PMID:15579795|PMID:15886248|PMID:16084888|PMID:16278261|PMID:16864747|PMID:17721928|PMID:17826728|PMID:18159088|PMID:19400992|PMID:21752882|PMID:22401810|PMID:23419799|PMID:25741868|PMID:28492532|PMID:8894317|PMID:9402264|PMID:9769327 12073407 FSHR follicle stimulating hormone receptor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome 12073407 FSHR follicle stimulating hormone receptor gene DOID:630 genetic disease ISO RGD:735571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073407 FSHR follicle stimulating hormone receptor gene DOID:9002762 Ovarian Neoplasms ISO RGD:735571 D RGD:9068941 20200609 RGD sex cord-stromal tumors;DNA:point mutation:F591S PMID:9100567|REF_RGD_ID:1601234 12073427 POLE4 DNA polymerase epsilon 4, accessory subunit gene DOID:630 genetic disease ISO RGD:1317190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073435 PRKD2 protein kinase D2 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1342931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 12073435 PRKD2 protein kinase D2 gene DOID:0110644 long QT syndrome 1 ISO RGD:1342931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:28492532 12073435 PRKD2 protein kinase D2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1342931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12073435 PRKD2 protein kinase D2 gene DOID:630 genetic disease ISO RGD:1342931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073435 PRKD2 protein kinase D2 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1342931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18758461 12073463 H4C16 H4 histone 16 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1346703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12073463 H4C16 H4 histone 16 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1346703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12073463 H4C16 H4 histone 16 gene DOID:630 genetic disease ISO RGD:1346703 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073468 TRDMT1 tRNA aspartic acid methyltransferase 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1606039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12073468 TRDMT1 tRNA aspartic acid methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1606039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073468 TRDMT1 tRNA aspartic acid methyltransferase 1 gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1606039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 12073486 POLQ DNA polymerase theta gene DOID:0080600 COVID-19 ISO RGD:1320324 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12073486 POLQ DNA polymerase theta gene DOID:3307 teratoma ISO RGD:1320324 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 12073486 POLQ DNA polymerase theta gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 PMID:25741868 12073486 POLQ DNA polymerase theta gene DOID:630 genetic disease ISO RGD:1320324 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12073486 POLQ DNA polymerase theta gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1320324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12073486 POLQ DNA polymerase theta gene DOID:9270 alkaptonuria ISO RGD:1320324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12073520 MELTF melanotransferrin gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1317764 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 12073520 MELTF melanotransferrin gene DOID:12849 autistic disorder ISO RGD:1317764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12073520 MELTF melanotransferrin gene DOID:1909 melanoma ISO RGD:1317764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16704991 12073520 MELTF melanotransferrin gene DOID:5419 schizophrenia ISO RGD:1317764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12073520 MELTF melanotransferrin gene DOID:630 genetic disease ISO RGD:1317764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073538 TBL1XR1 TBL1X/Y related 1 gene DOID:0070071 autosomal dominant intellectual developmental disorder 41 ISO RGD:1348910 D RGD:7240710 20190315 OMIM 12073538 TBL1XR1 TBL1X/Y related 1 gene DOID:0070071 autosomal dominant intellectual developmental disorder 41 ISO RGD:1348910 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 41 | ClinVar Annotator: match by term: TBL1XR1-Related Disorder PMID:18414213|PMID:19760657|PMID:22495309|PMID:23160955|PMID:25102098|PMID:25741868|PMID:27133561|PMID:28492532|PMID:28574232|PMID:30365874|PMID:32901917|PMID:33527360 12073538 TBL1XR1 TBL1X/Y related 1 gene DOID:1059 intellectual disability ISO RGD:1348910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26740553|PMID:29777588 12073538 TBL1XR1 TBL1X/Y related 1 gene DOID:1790 malignant mesothelioma ISO RGD:1348910 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12073538 TBL1XR1 TBL1X/Y related 1 gene DOID:630 genetic disease ISO RGD:1348910 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10322433|PMID:16893456|PMID:25102098|PMID:25741868|PMID:26467025|PMID:26740553|PMID:26769062|PMID:28492532|PMID:29777588 12073538 TBL1XR1 TBL1X/Y related 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 12073538 TBL1XR1 TBL1X/Y related 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12073538 TBL1XR1 TBL1X/Y related 1 gene DOID:9007450 Pierpont Syndrome ISO RGD:1348910 D RGD:7240710 20190315 OMIM 12073538 TBL1XR1 TBL1X/Y related 1 gene DOID:9007450 Pierpont Syndrome ISO RGD:1348910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pierpont syndrome | ClinVar Annotator: match by term: TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:19760657|PMID:23160955|PMID:25102098|PMID:25741868|PMID:26467025|PMID:26740553|PMID:26769062|PMID:27133561|PMID:27824329|PMID:28492532|PMID:28562391|PMID:28574232|PMID:28588275|PMID:30365874|PMID:30577886|PMID:31394400|PMID:31618753|PMID:32369273|PMID:35165208|PMID:9450851|PMID:9536098 12073567 CAMSAP2 calmodulin regulated spectrin associated protein family member 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1604039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12073567 CAMSAP2 calmodulin regulated spectrin associated protein family member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1604039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12073567 CAMSAP2 calmodulin regulated spectrin associated protein family member 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1604039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12073567 CAMSAP2 calmodulin regulated spectrin associated protein family member 2 gene DOID:630 genetic disease ISO RGD:1604039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073567 CAMSAP2 calmodulin regulated spectrin associated protein family member 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1604039 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12073567 CAMSAP2 calmodulin regulated spectrin associated protein family member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12073595 ATP6V1G3 ATPase H+ transporting V1 subunit G3 gene DOID:1540 parathyroid carcinoma ISO RGD:1312186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12073595 ATP6V1G3 ATPase H+ transporting V1 subunit G3 gene DOID:630 genetic disease ISO RGD:1312186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073595 ATP6V1G3 ATPase H+ transporting V1 subunit G3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12073602 FLRT2 fibronectin leucine rich transmembrane protein 2 gene DOID:1059 intellectual disability ISO RGD:1318426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12073602 FLRT2 fibronectin leucine rich transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:1318426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073611 MSH2 mutS homolog 2 gene DOID:0050465 Muir-Torre syndrome ISO RGD:732745 D RGD:7240710 20180130 OMIM 12073611 MSH2 mutS homolog 2 gene DOID:0050465 Muir-Torre syndrome ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas | ClinVar Annotator: match by term: Muir-Torré syndrome PMID:10080150|PMID:10323887|PMID:10375096|PMID:10397236|PMID:11151427|PMID:11291077|PMID:11601928|PMID:12132870|PMID:12362047|PMID:12624141|PMID:14994245|PMID:15235030|PMID:15655560|PMID:15849733|PMID:15872200|PMID:15942939|PMID:16216036|PMID:16451135|PMID:16636019|PMID:16736289|PMID:16830052|PMID:16996571|PMID:17250661|PMID:17312306|PMID:17473388|PMID:17569143|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18772310|PMID:19419416|PMID:19731080|PMID:20007843|PMID:21387278|PMID:21598002|PMID:21642682|PMID:21868491|PMID:21926548|PMID:22034109|PMID:22322191|PMID:22480969|PMID:23170986|PMID:23229822|PMID:23990280|PMID:24344984|PMID:24362816|PMID:24415873|PMID:24474082|PMID:24506336|PMID:24549055|PMID:24763289|PMID:24851142|PMID:25093288|PMID:25110875|PMID:25117503|PMID:25194673|PMID:25430799|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26289772|PMID:26437257|PMID:26467025|PMID:26878173|PMID:26951660|PMID:27329137|PMID:27601186|PMID:27606285|PMID:27863258|PMID:28195393|PMID:28202063|PMID:28449805|PMID:28492532|PMID:28640387|PMID:28828701|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29489754|PMID:29575718|PMID:29887214|PMID:29889250|PMID:30274973|PMID:30306255|PMID:30521064|PMID:30998989|PMID:31054147|PMID:31162827|PMID:31297992|PMID:31391288|PMID:31491536|PMID:31615790|PMID:31660093|PMID:31742824|PMID:32338768|PMID:32522261|PMID:32658311|PMID:32719484|PMID:33357406|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33630411|PMID:33827469|PMID:34426522|PMID:7585065|PMID:7713503|PMID:8566964|PMID:8592341|PMID:9002677|PMID:9217825|PMID:9288790|PMID:9718327 12073611 MSH2 mutS homolog 2 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:732746 D RGD:9068941 20210430 RGD PMID:11604476|REF_RGD_ID:126790556 12073611 MSH2 mutS homolog 2 gene DOID:0060180 colitis ISO RGD:620786 D RGD:9068941 20200609 RGD PMID:23883737|REF_RGD_ID:10412318 12073611 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:7240710 20180130 OMIM 12073611 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10978353|PMID:10995807|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11524701|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12694232|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17720936|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19659756|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969 12073611 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:22581703|PMID:22585170|PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:2695166|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31494577|PMID:31512090|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31882575|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32941469|PMID:32957588|PMID:32986223|PMID:32994724|PMID:33357406|PMID:33471991|PMID:33630411|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34347074|PMID:34371384|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795 12073611 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676 12073611 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31857677|PMID:31882575|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665 12073611 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676 12073611 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31857677|PMID:31882575|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33848333|PMID:33850299 12073611 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:33939675|PMID:34117267|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676 12073611 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612836|PMID:10693791|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10978353|PMID:10995807|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12694232|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19659756|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21837758|PMID:21868491|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969 12073611 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:22581703|PMID:22585170|PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659587|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677|PMID:31882575|PMID:31948886|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079 12073611 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32809219|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33630411|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34117267|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:36073783|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676 12073611 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612836|PMID:10693791|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10978353|PMID:10995807|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12414824|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12694232|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19659756|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21837758|PMID:21868491|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969 12073611 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:22581703|PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659587|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31444830|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677 12073611 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:31882575|PMID:31948886|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33630411|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9718327|PMID:9748699|PMID:9774676 12073611 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612836|PMID:10693791|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10978353|PMID:10995807|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11524701|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11839723|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12414824|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12694232|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19659756|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22102614|PMID:22120844 12073611 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32832836|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9718327|PMID:9748699|PMID:9774676 12073611 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:22179786|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31444830|PMID:31491536|PMID:31494577|PMID:31512090 12073611 MSH2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32832836|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36988593|PMID:6096739|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9718327|PMID:9748699|PMID:9774676 12073611 MSH2 mutS homolog 2 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 12073611 MSH2 mutS homolog 2 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:732745 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Constitutional mismatch repair deficiency syndrome | ClinVar Annotator: match by term: Turcot syndrome PMID:10080150|PMID:10196371|PMID:10323887|PMID:10375096|PMID:10970186|PMID:10978353|PMID:11151427|PMID:11291077|PMID:11601928|PMID:11920650|PMID:12132870|PMID:12362047|PMID:12624141|PMID:12658575|PMID:14580774|PMID:15235030|PMID:15365996|PMID:15655560|PMID:15713769|PMID:15849733|PMID:15855432|PMID:15872200|PMID:16216036|PMID:16395668|PMID:16451135|PMID:16614121|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16830052|PMID:16929514|PMID:16996571|PMID:17011982|PMID:17312306|PMID:17374836|PMID:17473388|PMID:17569143|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18561205|PMID:18772310|PMID:19419416|PMID:19459153|PMID:19669161|PMID:19698169|PMID:19731080|PMID:20007843|PMID:21056691|PMID:21387278|PMID:21598002|PMID:21642682|PMID:21868491|PMID:21926548|PMID:22034109|PMID:22290698|PMID:22883484|PMID:22977643|PMID:23990280|PMID:24033266|PMID:24344984|PMID:24362816|PMID:24415873|PMID:24474082|PMID:24506336|PMID:24549055|PMID:24763289|PMID:24851142|PMID:25093288|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25430799|PMID:25525159|PMID:25569433|PMID:25637381|PMID:25648859|PMID:25741868|PMID:26437257|PMID:26467025|PMID:26681312|PMID:26845104|PMID:26878173|PMID:26951660|PMID:27601186|PMID:27606285|PMID:27863258|PMID:28195393|PMID:28202063|PMID:28449805|PMID:28492532|PMID:28640387|PMID:28767289|PMID:28828701|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29302048|PMID:29489754|PMID:29575718|PMID:29731845|PMID:29887214|PMID:29889250|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30521064|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31162827|PMID:31237724|PMID:31297992|PMID:31391288|PMID:31491536|PMID:31615790|PMID:31660093|PMID:31742824|PMID:31857677|PMID:32338768|PMID:32522261|PMID:32658311|PMID:32719484|PMID:33357406|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33630411|PMID:33848333|PMID:34426522|PMID:36073783|PMID:36988593|PMID:8261515|PMID:8566964|PMID:8592341|PMID:9288790|PMID:9748699 12073611 MSH2 mutS homolog 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:732745 D RGD:9068941 20200609 RGD PMID:16217293|REF_RGD_ID:2293513 12073611 MSH2 mutS homolog 2 gene DOID:10534 stomach cancer ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10196371|PMID:10793088|PMID:10874307|PMID:11859205|PMID:11920650|PMID:12362047|PMID:12624141|PMID:12658575|PMID:14970868|PMID:15235030|PMID:15713769|PMID:15731775|PMID:15849733|PMID:15855432|PMID:16143124|PMID:16451135|PMID:16639607|PMID:17312306|PMID:17414604|PMID:17453009|PMID:18033691|PMID:18781192|PMID:19459153|PMID:19698169|PMID:20223024|PMID:20587412|PMID:20591884|PMID:21239990|PMID:21590452|PMID:21642682|PMID:21681552|PMID:21837758|PMID:22883484|PMID:23047549|PMID:24240112|PMID:24278394|PMID:24344984|PMID:24362816|PMID:24710284|PMID:25117503|PMID:25430799|PMID:25569433|PMID:25639900|PMID:25648859|PMID:25741868|PMID:26446363|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26824983|PMID:27016151|PMID:27432916|PMID:27449771|PMID:27863258|PMID:28050010|PMID:28127413|PMID:28492532|PMID:28514183|PMID:28724667|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29238914|PMID:29752822|PMID:30044143|PMID:30376427|PMID:31054147|PMID:31207149|PMID:31857677|PMID:32068069|PMID:33015532|PMID:33357406|PMID:33471991|PMID:36073783|PMID:36988593|PMID:8062247|PMID:8261515|PMID:9288790|PMID:9634524|PMID:9718327 12073611 MSH2 mutS homolog 2 gene DOID:11054 urinary bladder cancer ISO RGD:732745 D RGD:9068941 20200609 RGD DNA:mutation PMID:18389386|REF_RGD_ID:2293502 12073611 MSH2 mutS homolog 2 gene DOID:11054 urinary bladder cancer ISO RGD:732745 D RGD:9068941 20210430 RGD DNA:mutations: :multiple PMID:26385421|REF_RGD_ID:126790580 12073611 MSH2 mutS homolog 2 gene DOID:11054 urinary bladder cancer ISO RGD:732745 D RGD:9068941 20210430 RGD associated with Lynch syndrome PMID:22883484|REF_RGD_ID:126790557 12073611 MSH2 mutS homolog 2 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732745 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:18254781|REF_RGD_ID:2293503 12073611 MSH2 mutS homolog 2 gene DOID:1115 sarcoma ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:16395668|PMID:18383312|PMID:19389263|PMID:22290698|PMID:24033266|PMID:25741868|PMID:26094658|PMID:26250988|PMID:26467025|PMID:26580448|PMID:28492532|PMID:29458332|PMID:30093976|PMID:30131383|PMID:30998989|PMID:31391288|PMID:31569399|PMID:33357406|PMID:33471991 12073611 MSH2 mutS homolog 2 gene DOID:11832 visual epilepsy ISO RGD:620786 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, neuron PMID:10625070|REF_RGD_ID:2293528 12073611 MSH2 mutS homolog 2 gene DOID:12192 sigmoid colon cancer ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sigmoid colon cancer PMID:10495924|PMID:12658575|PMID:15849733|PMID:18566915|PMID:20215533|PMID:23741719|PMID:24323032|PMID:24362816|PMID:25117503|PMID:25648859|PMID:25741868|PMID:26177554|PMID:26659639|PMID:27013479|PMID:27601186|PMID:28492532|PMID:31162827 12073611 MSH2 mutS homolog 2 gene DOID:12858 Huntington's disease onset ISO RGD:732746 D RGD:9068941 20200609 RGD PMID:12554681|REF_RGD_ID:10412317 12073611 MSH2 mutS homolog 2 gene DOID:1324 lung cancer susceptibility ISO RGD:732745 D RGD:9068941 20210507 RGD DNA:SNP: :rs2303425 (human) PMID:25252909|REF_RGD_ID:126848798 12073611 MSH2 mutS homolog 2 gene DOID:1520 colon carcinoma ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10404063|PMID:10413423|PMID:10446963|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10612827|PMID:10612836|PMID:10777691|PMID:10793088|PMID:10978353|PMID:10995807|PMID:11151427|PMID:11291077|PMID:11691782|PMID:11772966|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920650|PMID:11975096|PMID:12112654|PMID:12115348|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14574162|PMID:14574163|PMID:14970868|PMID:15075785|PMID:15222003|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15516845|PMID:15520224|PMID:15527911|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16034045|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16288214|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16451135|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17192056|PMID:17312306|PMID:17350822|PMID:17414604|PMID:17440950|PMID:17505997|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18270343|PMID:18325052|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18772310|PMID:18822302|PMID:18951462|PMID:18951465|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19669161|PMID:19685281|PMID:19698169|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20850175|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21387278|PMID:21419771|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21681552|PMID:21788563|PMID:22039344|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22371642|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23454724|PMID:23526924|PMID:23573243|PMID:23612316|PMID:23741719|PMID:23760103|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24240112|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24396821|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24933000|PMID:24933100|PMID:25025451|PMID:25110875|PMID:25117503|PMID:25133505|PMID:25430799|PMID:25569433|PMID:25637381|PMID:25648859|PMID:25741868|PMID:25980754|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26096739|PMID:26177554|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26580448|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26824983|PMID:26898890|PMID:26900293|PMID:26951660|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27273229|PMID:27328445|PMID:27601186|PMID:27696107|PMID:27720647|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28422960|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28779002|PMID:28828701|PMID:28874130|PMID:28944238|PMID:29164703|PMID:29212164|PMID:29238914|PMID:29345684|PMID:29575718|PMID:29596542|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29887214|PMID:29967336|PMID:30019097|PMID:30217226|PMID:30238922|PMID:30267214|PMID:30376427|PMID:30521064|PMID:30877237|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31265121|PMID:31569399|PMID:31615790|PMID:31857677|PMID:32019277|PMID:32068069|PMID:32075053 12073611 MSH2 mutS homolog 2 gene DOID:1520 colon carcinoma ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:32090079|PMID:32283892|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32660107|PMID:32885271|PMID:32957588|PMID:33015532|PMID:33357406|PMID:33471991|PMID:33746161|PMID:34347074|PMID:36073783|PMID:3616036|PMID:6096739|PMID:7726159|PMID:7874129|PMID:8062247|PMID:8261515|PMID:8574961|PMID:8592341|PMID:8872463|PMID:8895729|PMID:9002677|PMID:9125109|PMID:9288790|PMID:9311737|PMID:9536098|PMID:9621522|PMID:9718327 12073611 MSH2 mutS homolog 2 gene DOID:1520 colon carcinoma ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10404063|PMID:10413423|PMID:10446963|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10777691|PMID:10793088|PMID:10978353|PMID:10995807|PMID:11151427|PMID:11291077|PMID:11691782|PMID:11772966|PMID:11870161|PMID:11910346|PMID:11920650|PMID:11975096|PMID:12112654|PMID:12115348|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14574162|PMID:14574163|PMID:14970868|PMID:15075785|PMID:15222003|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15516845|PMID:15520224|PMID:15527911|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16034045|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16288214|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16451135|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17192056|PMID:17312306|PMID:17350822|PMID:17414604|PMID:17440950|PMID:17505997|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18270343|PMID:18325052|PMID:18383312|PMID:18415027|PMID:18460031|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18772310|PMID:18822302|PMID:18951462|PMID:18951465|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19669161|PMID:19685281|PMID:19698169|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20850175|PMID:20937110|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21681552|PMID:21788563|PMID:21879275|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22371642|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23454724|PMID:23526924|PMID:23573243|PMID:23612316|PMID:23741719|PMID:23760103|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24090359|PMID:24240112|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24396821|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24933000|PMID:24933100|PMID:25025451|PMID:25110875|PMID:25117503|PMID:25133505|PMID:25430799|PMID:25525159|PMID:25569433|PMID:25637381|PMID:25648859|PMID:25741868|PMID:25795746|PMID:25980754|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26096739|PMID:26177554|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26580448|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26824983|PMID:26898890|PMID:26900293|PMID:26951660|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27273229|PMID:27328445|PMID:27601186|PMID:27696107|PMID:27720647|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28422960|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28779002|PMID:28828701|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29164703|PMID:29212164|PMID:29238914|PMID:29345684|PMID:29575718|PMID:29596542|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29887214|PMID:29967336|PMID:30019097|PMID:30093976|PMID:30217226|PMID:30238922|PMID:30267214|PMID:30376427|PMID:30521064|PMID:30553995|PMID:30702970|PMID:30787465|PMID:30875412|PMID:30877237 12073611 MSH2 mutS homolog 2 gene DOID:1520 colon carcinoma ISO RGD:732745 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31265121|PMID:31332305|PMID:31444830|PMID:31569399|PMID:31615790|PMID:31857677|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32283892|PMID:32547938|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32658311|PMID:32660107|PMID:32885271|PMID:32957588|PMID:33015532|PMID:33357406|PMID:33471991|PMID:33484353|PMID:33726816|PMID:33746161|PMID:34178123|PMID:34347074|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36988593|PMID:6096739|PMID:7726159|PMID:7874129|PMID:8062247|PMID:8261515|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8640829|PMID:8872463|PMID:8895729|PMID:9002677|PMID:9125109|PMID:9222765|PMID:9288790|PMID:9311737|PMID:9536098|PMID:9621522|PMID:9718327|PMID:9774676 12073611 MSH2 mutS homolog 2 gene DOID:1612 breast cancer ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11524701|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16199547|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21681552|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22585170|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25117502|PMID:25117503|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31569399|PMID:32255556|PMID:32338768|PMID:32566746|PMID:32658311|PMID:32986223|PMID:33471991|PMID:8613431|PMID:9718327 12073611 MSH2 mutS homolog 2 gene DOID:1612 breast cancer ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21681552|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22585170|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25117502|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31569399|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33357406|PMID:33471991|PMID:34755017|PMID:8613431|PMID:9718327 12073611 MSH2 mutS homolog 2 gene DOID:1612 breast cancer ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15613555|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:18990764|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25117502|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31569399|PMID:32019277|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33558524|PMID:33848333|PMID:34117267|PMID:34755017|PMID:8613431|PMID:9718327 12073611 MSH2 mutS homolog 2 gene DOID:1612 breast cancer ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11524701|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15613555|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16199547|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:18990764|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25117502|PMID:25117503|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31569399|PMID:32019277|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33468175|PMID:33471991|PMID:33558524|PMID:33848333|PMID:34117267|PMID:34755017|PMID:8613431|PMID:9718327 12073611 MSH2 mutS homolog 2 gene DOID:1612 breast cancer susceptibility ISO RGD:732745 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.G322D PMID:16252083|REF_RGD_ID:2293512 12073611 MSH2 mutS homolog 2 gene DOID:1896 sigmoid neoplasm ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sigmoid colon cancer PMID:10495924|PMID:12658575|PMID:15849733|PMID:18566915|PMID:20215533|PMID:23741719|PMID:24323032|PMID:24362816|PMID:25117503|PMID:25648859|PMID:25741868|PMID:26177554|PMID:26659639|PMID:27013479|PMID:27601186|PMID:28492532|PMID:31162827 12073611 MSH2 mutS homolog 2 gene DOID:218 ascending colon cancer ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of ascending colon PMID:11208710|PMID:11524701|PMID:11601928|PMID:11769729|PMID:11854906|PMID:12414824|PMID:12547705|PMID:12658575|PMID:15713769|PMID:15849733|PMID:16116158|PMID:16237223|PMID:16616355|PMID:16807412|PMID:17229076|PMID:17312306|PMID:18270343|PMID:18566915|PMID:20215533|PMID:20233461|PMID:20587412|PMID:21598002|PMID:23047549|PMID:24033266|PMID:24362816|PMID:25430799|PMID:25741868|PMID:26467025|PMID:27013479|PMID:27601186|PMID:28492532|PMID:30521064|PMID:9311737|PMID:9718327 12073611 MSH2 mutS homolog 2 gene DOID:219 colon cancer ISO RGD:732745 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:25741868|PMID:28492532 12073611 MSH2 mutS homolog 2 gene DOID:219 colon cancer disease_progression ISO RGD:732745 D RGD:9068941 20210430 RGD PMID:28411881|REF_RGD_ID:126790577 12073611 MSH2 mutS homolog 2 gene DOID:219 colon cancer disease_progression ISO RGD:732745 D RGD:9068941 20210430 RGD DNA, mRNA:loss of heterogeneity, increased expression: :colon PMID:29715107|REF_RGD_ID:126790554 12073611 MSH2 mutS homolog 2 gene DOID:219 colon cancer no_association ISO RGD:732745 D RGD:9068941 20210430 RGD DNA:SNP:intron:IVS10+12G>A (human) PMID:29715107|REF_RGD_ID:126790554 12073611 MSH2 mutS homolog 2 gene DOID:2394 ovarian cancer ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:12376507|PMID:14514376|PMID:15046089|PMID:15613555|PMID:16425354|PMID:18383312|PMID:18726168|PMID:19419416|PMID:22006311|PMID:22949387|PMID:23047549|PMID:23760103|PMID:25637381|PMID:25741868|PMID:26333163|PMID:26467025|PMID:26824983|PMID:26845104|PMID:26951660|PMID:27974047|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28580595|PMID:28706299|PMID:28767289|PMID:29050249|PMID:29192238|PMID:29684080|PMID:30122538|PMID:30267214|PMID:30374176|PMID:30630526|PMID:30833958|PMID:30982232|PMID:31054147|PMID:31235699|PMID:31248605|PMID:31307542|PMID:31386297|PMID:32019277|PMID:32255556|PMID:32547938|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33848333|PMID:34755017 12073611 MSH2 mutS homolog 2 gene DOID:2671 transitional cell carcinoma ISO RGD:732745 D RGD:9068941 20210430 RGD associated with Lynch syndrome PMID:22883484|REF_RGD_ID:126790557 12073611 MSH2 mutS homolog 2 gene DOID:2871 endometrial carcinoma ISO RGD:732745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:12115348|PMID:12362047|PMID:14504054|PMID:15235034|PMID:15655560|PMID:15713769|PMID:15849733|PMID:1586275|PMID:15862756|PMID:15872200|PMID:16451135|PMID:17192056|PMID:17312306|PMID:17440950|PMID:17531815|PMID:17576681|PMID:17665423|PMID:18383312|PMID:18772310|PMID:18822302|PMID:20305446|PMID:21879275|PMID:23047549|PMID:23729658|PMID:24033266|PMID:24278394|PMID:24362816|PMID:25081409|PMID:25479140|PMID:25525159|PMID:25741868|PMID:25964535|PMID:25987035|PMID:26467025|PMID:26951660|PMID:27449771|PMID:27601186|PMID:28492532|PMID:29212164|PMID:29967336|PMID:30998989|PMID:32295079|PMID:32849802|PMID:33357406|PMID:33471991|PMID:7585065|PMID:8640829|PMID:9222765|PMID:9536098|PMID:9718327|PMID:9774676 12073611 MSH2 mutS homolog 2 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:732745 D RGD:9068941 20210430 RGD mRNA:decreased expression:larynx PMID:23787767|REF_RGD_ID:126848783 12073611 MSH2 mutS homolog 2 gene DOID:3068 glioblastoma ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:25741868 12073611 MSH2 mutS homolog 2 gene DOID:3070 high grade glioma ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ependymoma PMID:11726306|PMID:15849733|PMID:17101317|PMID:25741868|PMID:28492532|PMID:28785832 12073611 MSH2 mutS homolog 2 gene DOID:3247 rhabdomyosarcoma ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10080150|PMID:10323887|PMID:10375096|PMID:11151427|PMID:15849733|PMID:15872200|PMID:16216036|PMID:16736289|PMID:16996571|PMID:18270343|PMID:19731080|PMID:21642682|PMID:22034109|PMID:23990280|PMID:24344984|PMID:24362816|PMID:24549055|PMID:24851142|PMID:25117503|PMID:25194673|PMID:25430799|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27601186|PMID:28492532|PMID:28874130|PMID:30521064|PMID:31054147|PMID:31615790|PMID:33484353|PMID:8592341 12073611 MSH2 mutS homolog 2 gene DOID:3347 osteosarcoma disease_progression ISO RGD:732745 D RGD:9068941 20210430 RGD PMID:25503122|REF_RGD_ID:126848779 12073611 MSH2 mutS homolog 2 gene DOID:3459 breast carcinoma ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:10023327|PMID:10051005|PMID:10413423|PMID:10446963|PMID:10978353|PMID:11291077|PMID:11601928|PMID:11726306|PMID:11920650|PMID:12112654|PMID:12352241|PMID:12522549|PMID:12624141|PMID:15222003|PMID:15235030|PMID:15254659|PMID:15713769|PMID:15849733|PMID:15855432|PMID:16203774|PMID:16216036|PMID:16341550|PMID:16395668|PMID:16451135|PMID:16636019|PMID:16736289|PMID:16830052|PMID:17101317|PMID:17192056|PMID:17312306|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18270343|PMID:18325052|PMID:18383312|PMID:18460031|PMID:18566915|PMID:18772310|PMID:18951462|PMID:18951465|PMID:19130300|PMID:19267393|PMID:19419416|PMID:19459153|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20672385|PMID:20682701|PMID:21120944|PMID:21598002|PMID:21636617|PMID:21642682|PMID:21681552|PMID:21788563|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22883484|PMID:22949379|PMID:22949387|PMID:23329266|PMID:23760103|PMID:24033266|PMID:24040339|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24362816|PMID:24415873|PMID:24728327|PMID:24933000|PMID:25025451|PMID:25093288|PMID:25110875|PMID:25117503|PMID:25133505|PMID:25430799|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25795746|PMID:25980754|PMID:26096739|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26845104|PMID:26951660|PMID:27328445|PMID:27601186|PMID:27606285|PMID:28449805|PMID:28492532|PMID:28526081|PMID:28785832|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29489754|PMID:29575718|PMID:29659569|PMID:29769598|PMID:29889250|PMID:30019097|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30521064|PMID:30553995|PMID:30702970|PMID:30787465|PMID:30798936|PMID:30875412|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31332305|PMID:31444830|PMID:31491536|PMID:31615790|PMID:31660093|PMID:31742824|PMID:31857677|PMID:32075053|PMID:32658311|PMID:33357406|PMID:33471991|PMID:33484353|PMID:33726816|PMID:34178123|PMID:34347074|PMID:36073783|PMID:6096739|PMID:8062247|PMID:8566964|PMID:8872463|PMID:8895729|PMID:9036882|PMID:9288790|PMID:9536098 12073611 MSH2 mutS homolog 2 gene DOID:3459 breast carcinoma disease_progression ISO RGD:732745 D RGD:9068941 20200609 RGD PMID:10769643|REF_RGD_ID:2293524 12073611 MSH2 mutS homolog 2 gene DOID:3459 breast carcinoma severity ISO RGD:732745 D RGD:9068941 20200609 RGD PMID:17394628|REF_RGD_ID:2293505 12073611 MSH2 mutS homolog 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732745 D RGD:9068941 20210430 RGD DNA, protein:hypermethylation, decreased expression:esophagus PMID:24366688|REF_RGD_ID:126790573 12073611 MSH2 mutS homolog 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732745 D RGD:9068941 20210430 RGD DNA, protein:hypermethylation, decreased expression:promoter, esophagus PMID:22265839|REF_RGD_ID:126790560 12073611 MSH2 mutS homolog 2 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:732745 D RGD:9068941 20210430 RGD DNA, protein:hypermethylation, decreased expression:promoter, esophagus PMID:21674174|REF_RGD_ID:126790574 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11420466|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11854906|PMID:11857745|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:155342696|PMID:15571801|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32719484|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33046448|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32719484|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33046448|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33046448|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33746161|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:9774676|PMID:9777949|PMID:9843200 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32809219|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33046448|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33746161|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34117267|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34837403|PMID:34906448|PMID:36073783|PMID:3616036|PMID:6096739|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:155342696|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:15896463|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32809219|PMID:32832836|PMID:32844218 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:155342696|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10630344|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:155342696|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10630344|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35449176|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35449176|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 12073611 MSH2 mutS homolog 2 gene DOID:3883 Lynch syndrome onset ISO RGD:732745 D RGD:9068941 20210430 RGD PMID:10404063|REF_RGD_ID:11063948 12073611 MSH2 mutS homolog 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732745 D RGD:9068941 20210430 RGD PMID:32211850|REF_RGD_ID:126848780 12073611 MSH2 mutS homolog 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732745 D RGD:9068941 20210430 RGD protein:decreased expression:lung PMID:16783774|REF_RGD_ID:126848791 12073611 MSH2 mutS homolog 2 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732745 D RGD:9068941 20210430 RGD DNA:SNP: :rs6544991 (human) PMID:28093084|REF_RGD_ID:126848786 12073611 MSH2 mutS homolog 2 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732745 D RGD:9068941 20210507 RGD PMID:20145178|PMID:20458443|REF_RGD_ID:126848789|REF_RGD_ID:126848800 12073611 MSH2 mutS homolog 2 gene DOID:3910 lung adenocarcinoma ISO RGD:732745 D RGD:9068941 20210507 RGD DNA:polymorphisms:introns:IVS10+12A>G, IVS12-6T>C (human) PMID:16614121|REF_RGD_ID:11065547 12073611 MSH2 mutS homolog 2 gene DOID:3910 lung adenocarcinoma no_association ISO RGD:732745 D RGD:9068941 20210507 RGD DNA:polymorphisms:promoter, intron:-118T>C, IVS1+9G>C (human) PMID:16614121|REF_RGD_ID:11065547 12073611 MSH2 mutS homolog 2 gene DOID:4450 renal cell carcinoma ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:18325052|PMID:21926548|PMID:24506336|PMID:24763289|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26878173|PMID:26951660|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28640387|PMID:28828701|PMID:29887214|PMID:30306255|PMID:30998989|PMID:31297992|PMID:31391288|PMID:32658311|PMID:32719484|PMID:33357406|PMID:33471991|PMID:33630411|PMID:34426522 12073611 MSH2 mutS homolog 2 gene DOID:4606 bile duct cancer ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:33357406 12073611 MSH2 mutS homolog 2 gene DOID:5119 ovarian cyst ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ovarian cyst PMID:10564582|PMID:15849733|PMID:15955785|PMID:16216036|PMID:17312306|PMID:17569143|PMID:19419416|PMID:21778331|PMID:24244552|PMID:24362816|PMID:25559809|PMID:25712738|PMID:25741868|PMID:26467025|PMID:26552419|PMID:26845104|PMID:28492532|PMID:29360161|PMID:31615790|PMID:31692600|PMID:31948886|PMID:8872463 12073611 MSH2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10080150|PMID:10469597|PMID:10612827|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21520333|PMID:21528233|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32566746|PMID:33357406|PMID:33471991|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9536098|PMID:9559627|PMID:9611074 12073611 MSH2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26991699|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32566746|PMID:33357406|PMID:33471991|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074 12073611 MSH2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26991699|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33357406|PMID:33471991|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074 12073611 MSH2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26991699|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33357406|PMID:33471991|PMID:34117267|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074 12073611 MSH2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26552419|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:34117267|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074 12073611 MSH2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26552419|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:34117267|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074 12073611 MSH2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16327991|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26552419|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:34117267|PMID:34347074|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:9298827|PMID:9559627|PMID:9611074 12073611 MSH2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12132870|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20388775|PMID:20587412|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25980754|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32957588|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33848333|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34347074|PMID:34371384|PMID:35245693|PMID:35263119|PMID:3616036|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8993976|PMID:9298827|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522 12073611 MSH2 mutS homolog 2 gene DOID:630 genetic disease ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12073611 MSH2 mutS homolog 2 gene DOID:687 hepatoblastoma ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 12073611 MSH2 mutS homolog 2 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:732745 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:15807307|REF_RGD_ID:2293515 12073611 MSH2 mutS homolog 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:732745 D RGD:9068941 20210507 RGD associated with laryngeal squamous cell carcinoma PMID:24459922|REF_RGD_ID:126848797 12073611 MSH2 mutS homolog 2 gene DOID:9000457 Germ Cell and Embryonal Neoplasms disease_progression ISO RGD:732745 D RGD:9068941 20200609 RGD PMID:15492498|REF_RGD_ID:2293516 12073611 MSH2 mutS homolog 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732745 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:17390069|REF_RGD_ID:2293506 12073611 MSH2 mutS homolog 2 gene DOID:9001515 Angioma Serpiginosum, Autosomal Dominant ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angioma serpiginosum, autosomal dominant PMID:25741868|PMID:28492532 12073611 MSH2 mutS homolog 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:10375096|PMID:10413423|PMID:15713769|PMID:15849733|PMID:16216036|PMID:17348456|PMID:19731080|PMID:20215533|PMID:21598002|PMID:24362816|PMID:24710284|PMID:26467025|PMID:26485756|PMID:28492532|PMID:9777949 12073611 MSH2 mutS homolog 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:732745 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:17596548|REF_RGD_ID:2293504 12073611 MSH2 mutS homolog 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:732745 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:15807307|REF_RGD_ID:2293515 12073611 MSH2 mutS homolog 2 gene DOID:9003892 Mismatch Repair Cancer Syndrome 1 ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 PMID:10080150|PMID:10323887|PMID:10375096|PMID:11151427|PMID:11291077|PMID:11601928|PMID:12132870|PMID:12362047|PMID:12624141|PMID:15235030|PMID:15655560|PMID:15849733|PMID:15872200|PMID:16216036|PMID:16451135|PMID:16636019|PMID:16736289|PMID:16830052|PMID:16996571|PMID:17312306|PMID:17473388|PMID:17569143|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18772310|PMID:19419416|PMID:19731080|PMID:20007843|PMID:21387278|PMID:21598002|PMID:21642682|PMID:21868491|PMID:21926548|PMID:22034109|PMID:23990280|PMID:24344984|PMID:24362816|PMID:24415873|PMID:24474082|PMID:24506336|PMID:24549055|PMID:24763289|PMID:24851142|PMID:25093288|PMID:25110875|PMID:25117503|PMID:25194673|PMID:25430799|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26437257|PMID:26467025|PMID:26878173|PMID:26951660|PMID:27601186|PMID:27606285|PMID:27863258|PMID:28195393|PMID:28202063|PMID:28449805|PMID:28492532|PMID:28640387|PMID:28828701|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29489754|PMID:29575718|PMID:29887214|PMID:29889250|PMID:30274973|PMID:30306255|PMID:30521064|PMID:30998989|PMID:31054147|PMID:31162827|PMID:31297992|PMID:31391288|PMID:31491536|PMID:31615790|PMID:31660093|PMID:31742824|PMID:32338768|PMID:32522261|PMID:32658311|PMID:32719484|PMID:33357406|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33630411|PMID:34426522|PMID:8566964|PMID:8592341|PMID:9288790 12073611 MSH2 mutS homolog 2 gene DOID:9004271 Colonic Polyps ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon polyps PMID:15849733|PMID:16341550|PMID:24549055|PMID:24556621|PMID:24728189|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27601186|PMID:27696107|PMID:28466842|PMID:28492532|PMID:30877237 12073611 MSH2 mutS homolog 2 gene DOID:9005147 Hydatidiform Mole ISO RGD:732745 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell PMID:15338238|REF_RGD_ID:2293517 12073611 MSH2 mutS homolog 2 gene DOID:9005761 Mismatch Repair Cancer Syndrome 2 ISO RGD:732745 D RGD:7240710 20201202 OMIM 12073611 MSH2 mutS homolog 2 gene DOID:9005761 Mismatch Repair Cancer Syndrome 2 ISO RGD:732745 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mismatch repair cancer syndrome 2 PMID:10190329|PMID:10196371|PMID:11809679|PMID:11920650|PMID:12549480|PMID:12658575|PMID:15235030|PMID:15713769|PMID:15849733|PMID:15855432|PMID:16372347|PMID:16639607|PMID:18781192|PMID:19459153|PMID:19698169|PMID:21642682|PMID:22883484|PMID:24033266|PMID:24090359|PMID:24362816|PMID:25117503|PMID:25370038|PMID:25430799|PMID:25569433|PMID:25648859|PMID:25673086|PMID:25741868|PMID:26467025|PMID:26681312|PMID:28492532|PMID:28944238|PMID:29887214|PMID:29967336|PMID:30322717|PMID:31054147|PMID:31857677|PMID:36073783|PMID:36988593|PMID:8521394 12073611 MSH2 mutS homolog 2 gene DOID:9005804 Vulvar Neoplasms ISO RGD:732745 D RGD:9068941 20200609 RGD protein:increased expression:vulva PMID:15870899|REF_RGD_ID:2293514 12073611 MSH2 mutS homolog 2 gene DOID:9006657 Colon Diverticulum ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colonic diverticula 12073611 MSH2 mutS homolog 2 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:18325052|PMID:21926548|PMID:24506336|PMID:24763289|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26878173|PMID:26951660|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28640387|PMID:28828701|PMID:29887214|PMID:30306255|PMID:30998989|PMID:31297992|PMID:31391288|PMID:32658311|PMID:32719484|PMID:33357406|PMID:33471991|PMID:33630411|PMID:34426522 12073611 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11420466|PMID:11524701|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14692024|PMID:14871975|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17128465|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17720936|PMID:17846840|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121 12073611 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:2695166|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27432916|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27628256|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310 12073611 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28580595|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29020732|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31494577|PMID:31512090|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31666926|PMID:31857677|PMID:31881200|PMID:31882575|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32660107|PMID:32741062|PMID:32941469|PMID:32957588|PMID:32986223|PMID:32994724|PMID:33357406|PMID:33383211|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34347074|PMID:34371384|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 12073611 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11420466|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14692024|PMID:14871975|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17128465|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17720936|PMID:17846840|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461 12073611 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22086678|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28785832|PMID:28828701|PMID:28873162 12073611 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28874130|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31666926|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32741062|PMID:32849802|PMID:32941469|PMID:32957588|PMID:32986223|PMID:32994724|PMID:33357406|PMID:33383211|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34347074|PMID:34371384|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 12073611 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22086678|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002 12073611 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32719484|PMID:32741062|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 12073611 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32719484|PMID:32741062|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 12073611 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22086678|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567 12073611 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 12073611 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14692024|PMID:14871975|PMID:14961575|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15340264|PMID:15340835|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:15896463|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16826164|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17051350|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18822302|PMID:18931482 12073611 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660 12073611 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34178123 12073611 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35223509|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 12073611 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14692024|PMID:14871975|PMID:14961575|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15340264|PMID:15340835|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16826164|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17051350|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575 12073611 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293 12073611 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333 12073611 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:33850299|PMID:33939675|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 12073611 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14692024|PMID:14871975|PMID:14961575|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15340264|PMID:15340835|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16826164|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17051350|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310 12073611 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440 12073611 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532 12073611 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14692024|PMID:14871975|PMID:14961575|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15340835|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16826164|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17051350|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544 12073611 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639 12073611 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694 12073611 MSH2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33191490|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35039564|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35449176|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 12073611 MSH2 mutS homolog 2 gene DOID:9007150 Urogenital Neoplasms ISO RGD:732745 D RGD:9068941 20200609 RGD protein:decreased expression PMID:16288216|REF_RGD_ID:2293511 12073611 MSH2 mutS homolog 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:732745 D RGD:9068941 20200609 RGD PMID:11920468|REF_RGD_ID:2293523 12073611 MSH2 mutS homolog 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:732745 D RGD:9068941 20200609 RGD DNA, protein:mutation, decreased expression:endometrium PMID:17925543|REF_RGD_ID:2298951 12073611 MSH2 mutS homolog 2 gene DOID:9007998 Hydatidiform Mole, Invasive ISO RGD:732745 D RGD:9068941 20200609 RGD protein:decreased expression:mononuclear cytotrophoblast cell PMID:15338238|REF_RGD_ID:2293517 12073611 MSH2 mutS homolog 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732745 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18949393 12073611 MSH2 mutS homolog 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:732745 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 12073611 MSH2 mutS homolog 2 gene DOID:9256 colorectal cancer ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:11208710|PMID:15520370|PMID:15849733|PMID:15872200|PMID:16574953|PMID:1710317|PMID:17531815|PMID:18033691|PMID:18383312|PMID:18822302|PMID:18951462|PMID:19389263|PMID:23047549|PMID:24033266|PMID:24728327|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26344056|PMID:26648449|PMID:26951660|PMID:27153395|PMID:27601186|PMID:28125075|PMID:28195393|PMID:28492532|PMID:28874130|PMID:29212164|PMID:29368341|PMID:29945567|PMID:30374176|PMID:30798936|PMID:31843900|PMID:9774676 12073611 MSH2 mutS homolog 2 gene DOID:9256 colorectal cancer ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:11208710|PMID:15520370|PMID:15849733|PMID:15872200|PMID:16574953|PMID:1710317|PMID:17531815|PMID:18033691|PMID:18383312|PMID:18822302|PMID:18951462|PMID:19389263|PMID:23047549|PMID:24033266|PMID:24728327|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26344056|PMID:26648449|PMID:26951660|PMID:27153395|PMID:27601186|PMID:28125075|PMID:28195393|PMID:28492532|PMID:28874130|PMID:29212164|PMID:29368341|PMID:29945567|PMID:30374176|PMID:30798936|PMID:31391288|PMID:31843900|PMID:33357406|PMID:33393477|PMID:33471991|PMID:34117267|PMID:34906448|PMID:9774676 12073611 MSH2 mutS homolog 2 gene DOID:9256 colorectal cancer ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer PMID:11208710|PMID:15520370|PMID:15849733|PMID:15872200|PMID:16574953|PMID:1710317|PMID:17531815|PMID:18033691|PMID:18383312|PMID:18822302|PMID:18951462|PMID:19389263|PMID:21520333|PMID:23047549|PMID:24033266|PMID:24728327|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26344056|PMID:26648449|PMID:26951660|PMID:27153395|PMID:27601186|PMID:28125075|PMID:28195393|PMID:28492532|PMID:28874130|PMID:29212164|PMID:29368341|PMID:29945567|PMID:30374176|PMID:30798936|PMID:31391288|PMID:31843900|PMID:33357406|PMID:33393477|PMID:33471991|PMID:34117267|PMID:34906448|PMID:9774676 12073611 MSH2 mutS homolog 2 gene DOID:9460 uterine corpus cancer ISO RGD:732745 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:11859205|PMID:21642682|PMID:36988593|PMID:9634524 12073632 ACBD7 acyl-CoA binding domain containing 7 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1350250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12073632 ACBD7 acyl-CoA binding domain containing 7 gene DOID:630 genetic disease ISO RGD:1350250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073640 NLGN4X neuroligin 4 X-linked gene DOID:0050432 Asperger syndrome ISO RGD:1603020 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Asperger syndrome, X-linked, susceptibility to, 2 PMID:18189281|PMID:18231125|PMID:19726642|PMID:23468870|PMID:24570023|PMID:25675530|PMID:25741868|PMID:26055424|PMID:28492532|PMID:34963808 12073640 NLGN4X neuroligin 4 X-linked gene DOID:0060041 autism spectrum disorder ISO RGD:1603020 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12073640 NLGN4X neuroligin 4 X-linked gene DOID:1059 intellectual disability ISO RGD:1603020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12073640 NLGN4X neuroligin 4 X-linked gene DOID:12849 autistic disorder ISO RGD:1603020 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 2 PMID:11368788|PMID:12669065|PMID:14963808|PMID:15150161|PMID:18231125|PMID:19377476|PMID:21681106|PMID:23431752|PMID:25326635|PMID:25741868|PMID:28492532|PMID:30208311 12073640 NLGN4X neuroligin 4 X-linked gene DOID:12849 autistic disorder susceptibility ISO RGD:1603020 D RGD:7240710 20230517 OMIM 12073640 NLGN4X neuroligin 4 X-linked gene DOID:630 genetic disease ISO RGD:1603020 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15622415|PMID:18093521|PMID:19377476|PMID:19645625|PMID:23431752|PMID:23851596|PMID:24362370|PMID:25741868|PMID:28492532 12073640 NLGN4X neuroligin 4 X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12073695 C20H3orf18 chromosome 20 C3orf18 homolog gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12073695 C20H3orf18 chromosome 20 C3orf18 homolog gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12073695 C20H3orf18 chromosome 20 C3orf18 homolog gene DOID:630 genetic disease ISO RGD:1343802 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073705 NSRP1 nuclear speckle splicing regulatory protein 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1604770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 12073705 NSRP1 nuclear speckle splicing regulatory protein 1 gene DOID:10907 microcephaly ISO RGD:1604770 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:34385670 12073705 NSRP1 nuclear speckle splicing regulatory protein 1 gene DOID:1826 epilepsy ISO RGD:1604770 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:34385670 12073705 NSRP1 nuclear speckle splicing regulatory protein 1 gene DOID:630 genetic disease ISO RGD:1604770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073705 NSRP1 nuclear speckle splicing regulatory protein 1 gene DOID:9007428 Muscle Spasticity ISO RGD:1604770 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spasticity PMID:34385670 12073722 CLRN2 clarin 2 gene DOID:630 genetic disease ISO RGD:2291757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073722 CLRN2 clarin 2 gene DOID:9000321 Autosomal Recessive Nonsyndromic Deafness 117 ISO RGD:2291757 D RGD:7240710 20210303 OMIM 12073722 CLRN2 clarin 2 gene DOID:9000321 Autosomal Recessive Nonsyndromic Deafness 117 ISO RGD:2291757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 117 PMID:25741868|PMID:33496845 12073729 C5H11orf87 chromosome 5 C11orf87 homolog gene DOID:1059 intellectual disability ISO RGD:1604683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12073729 C5H11orf87 chromosome 5 C11orf87 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1604683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12073729 C5H11orf87 chromosome 5 C11orf87 homolog gene DOID:630 genetic disease ISO RGD:1604683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073729 C5H11orf87 chromosome 5 C11orf87 homolog gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12073746 RIN1 Ras and Rab interactor 1 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1348032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 12073746 RIN1 Ras and Rab interactor 1 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1348032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 12073746 RIN1 Ras and Rab interactor 1 gene DOID:1059 intellectual disability ISO RGD:1348032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12073746 RIN1 Ras and Rab interactor 1 gene DOID:1909 melanoma ISO RGD:1348032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12073746 RIN1 Ras and Rab interactor 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1348032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12073746 RIN1 Ras and Rab interactor 1 gene DOID:2746 glycogen storage disease V ISO RGD:1348032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12073746 RIN1 Ras and Rab interactor 1 gene DOID:630 genetic disease ISO RGD:1348032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073746 RIN1 Ras and Rab interactor 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1348032 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12073746 RIN1 Ras and Rab interactor 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1348032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12073761 ZFP82 ZFP82 zinc finger protein gene DOID:630 genetic disease ISO RGD:1345340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073775 H3-4 H3.4 histone, cluster member gene DOID:10316 pneumoconiosis ISO RGD:1317808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 12073775 H3-4 H3.4 histone, cluster member gene DOID:1059 intellectual disability ISO RGD:1317808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12073775 H3-4 H3.4 histone, cluster member gene DOID:1540 parathyroid carcinoma ISO RGD:1317808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12073775 H3-4 H3.4 histone, cluster member gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12073781 SRXN1 sulfiredoxin 1 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1316466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:20206331|PMID:22824638|PMID:24239381|PMID:25462087|PMID:28492532 12073781 SRXN1 sulfiredoxin 1 gene DOID:630 genetic disease ISO RGD:1316466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073781 SRXN1 sulfiredoxin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12073781 SRXN1 sulfiredoxin 1 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:1316466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532 12073786 OR2AE1 olfactory receptor family 2 subfamily AE member 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12073786 OR2AE1 olfactory receptor family 2 subfamily AE member 1 gene DOID:630 genetic disease ISO RGD:1344866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073791 ZNF641 zinc finger protein 641 gene DOID:630 genetic disease ISO RGD:1606174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073804 OSGEP O-sialoglycoprotein endopeptidase gene DOID:0080245 Galloway-Mowat syndrome 3 ISO RGD:1318432 D RGD:7240710 20190315 OMIM 12073804 OSGEP O-sialoglycoprotein endopeptidase gene DOID:0080245 Galloway-Mowat syndrome 3 ISO RGD:1318432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 PMID:11519896|PMID:15966048|PMID:17897280|PMID:18019379|PMID:21791310|PMID:25741868|PMID:28272532|PMID:28492532|PMID:28805828|PMID:29127259|PMID:30141175|PMID:31564459|PMID:33333793|PMID:33532864 12073804 OSGEP O-sialoglycoprotein endopeptidase gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1318432 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome PMID:17897280|PMID:25741868|PMID:28272532|PMID:28805828 12073804 OSGEP O-sialoglycoprotein endopeptidase gene DOID:1184 nephrotic syndrome ISO RGD:1318432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:11519896|PMID:15966048|PMID:18019379|PMID:21791310|PMID:25741868|PMID:28492532|PMID:28805828|PMID:29127259|PMID:31564459|PMID:33333793 12073804 OSGEP O-sialoglycoprotein endopeptidase gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1318432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12073804 OSGEP O-sialoglycoprotein endopeptidase gene DOID:630 genetic disease ISO RGD:1318432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28272532|PMID:28492532|PMID:28805828|PMID:30141175 12073945 ADORA1 adenosine A1 receptor gene DOID:0050848 obstructive sleep apnea ISO RGD:2048 D RGD:9068941 20200609 RGD PMID:18787037|REF_RGD_ID:5129100 12073945 ADORA1 adenosine A1 receptor gene DOID:0060001 withdrawal disorder ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16226742 12073945 ADORA1 adenosine A1 receptor gene DOID:0060500 drug allergy ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19019667 12073945 ADORA1 adenosine A1 receptor gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:730817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12073945 ADORA1 adenosine A1 receptor gene DOID:10763 hypertension ISO RGD:2048 D RGD:9068941 20200609 RGD PMID:8998253|REF_RGD_ID:1625366 12073945 ADORA1 adenosine A1 receptor gene DOID:10763 hypertension no_association ISO RGD:730817 D RGD:9068941 20200609 RGD PMID:15257174|REF_RGD_ID:1625367 12073945 ADORA1 adenosine A1 receptor gene DOID:10763 hypertension treatment ISO RGD:2048 D RGD:9068941 20200609 RGD associated with diabetes mellitus, experimental PMID:9597368|REF_RGD_ID:1625365 12073945 ADORA1 adenosine A1 receptor gene DOID:1540 parathyroid carcinoma ISO RGD:730817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12073945 ADORA1 adenosine A1 receptor gene DOID:224 transient cerebral ischemia ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23437309 12073945 ADORA1 adenosine A1 receptor gene DOID:2841 asthma ISO RGD:730817 D RGD:9068941 20200609 RGD DNA:SNPs: :1405C>T (human) PMID:19019667|REF_RGD_ID:4890386 12073945 ADORA1 adenosine A1 receptor gene DOID:2841 asthma ISO RGD:730817 D RGD:9068941 20200609 RGD protein:increased expression:bronchus PMID:17959644|REF_RGD_ID:5129097 12073945 ADORA1 adenosine A1 receptor gene DOID:2841 asthma ISO RGD:730818 D RGD:9068941 20200609 RGD PMID:20400685|REF_RGD_ID:4145444 12073945 ADORA1 adenosine A1 receptor gene DOID:326 ischemia ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18950269 12073945 ADORA1 adenosine A1 receptor gene DOID:3525 middle cerebral artery infarction ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23437309 12073945 ADORA1 adenosine A1 receptor gene DOID:3526 cerebral infarction ISO RGD:2048 D RGD:9068941 20200609 RGD PMID:17067559|REF_RGD_ID:1625229 12073945 ADORA1 adenosine A1 receptor gene DOID:552 pneumonia ISO RGD:730818 D RGD:9068941 20200609 RGD PMID:15630442|REF_RGD_ID:5129098 12073945 ADORA1 adenosine A1 receptor gene DOID:5844 myocardial infarction ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12160945 12073945 ADORA1 adenosine A1 receptor gene DOID:630 genetic disease ISO RGD:730817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073945 ADORA1 adenosine A1 receptor gene DOID:850 lung disease ISO RGD:2048 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:18307414|REF_RGD_ID:5129095 12073945 ADORA1 adenosine A1 receptor gene DOID:850 lung disease ISO RGD:730818 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:20729330|REF_RGD_ID:5129093 12073945 ADORA1 adenosine A1 receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2048 D RGD:9068941 20200609 RGD PMID:18289533|PMID:20065990|REF_RGD_ID:5129094|REF_RGD_ID:5129096 12073945 ADORA1 adenosine A1 receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2048 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:17853654|REF_RGD_ID:4890369 12073945 ADORA1 adenosine A1 receptor gene DOID:9000184 Ventricular Fibrillation ISO RGD:2048 D RGD:9068941 20200609 RGD PMID:20334814|REF_RGD_ID:2317910 12073945 ADORA1 adenosine A1 receptor gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19019667 12073945 ADORA1 adenosine A1 receptor gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18950269 12073945 ADORA1 adenosine A1 receptor gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092996 12073945 ADORA1 adenosine A1 receptor gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:2048 D RGD:9068941 20200609 RGD associated with Hypertrophy, Left Ventricular;protein:increased expression:left heart ventricle PMID:17211253|REF_RGD_ID:1625225 12073945 ADORA1 adenosine A1 receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:2048 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19552053|REF_RGD_ID:2313803 12073945 ADORA1 adenosine A1 receptor gene DOID:9002211 Hyperalgesia ISO RGD:2048 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries PMID:20065990|REF_RGD_ID:5129094 12073945 ADORA1 adenosine A1 receptor gene DOID:9002955 Nerve Degeneration ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23437309 12073945 ADORA1 adenosine A1 receptor gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2048 D RGD:9068941 20220616 RGD protein:decreased expression:brain: PMID:25720338|REF_RGD_ID:152995398 12073945 ADORA1 adenosine A1 receptor gene DOID:9003805 Catalepsy ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9407998 12073945 ADORA1 adenosine A1 receptor gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:730817 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12073945 ADORA1 adenosine A1 receptor gene DOID:9004760 Paroxysmal Dyspnea ISO RGD:730817 D RGD:9068941 20200609 RGD PMID:21388992|REF_RGD_ID:5129099 12073945 ADORA1 adenosine A1 receptor gene DOID:9005372 Inflammation ISO RGD:2048 D RGD:9068941 20200609 RGD PMID:2167912|REF_RGD_ID:5129103 12073945 ADORA1 adenosine A1 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2048 D RGD:9068941 20200609 RGD PMID:11593763|REF_RGD_ID:2313808 12073945 ADORA1 adenosine A1 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2048 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:16256246|REF_RGD_ID:2313805 12073945 ADORA1 adenosine A1 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730818 D RGD:9068941 20200609 RGD PMID:19276628|REF_RGD_ID:2313804 12073945 ADORA1 adenosine A1 receptor gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2048 D RGD:9068941 20200609 RGD associated with hypertension PMID:9597368|REF_RGD_ID:1625365 12073945 ADORA1 adenosine A1 receptor gene DOID:9006024 Hypotension ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15641640|PMID:18313046 12073945 ADORA1 adenosine A1 receptor gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15641640 12073945 ADORA1 adenosine A1 receptor gene DOID:9007001 Bradycardia ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18313046 12073945 ADORA1 adenosine A1 receptor gene DOID:9007039 Ventricular Dysfunction ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15641640 12073945 ADORA1 adenosine A1 receptor gene DOID:9007692 Insulin Resistance ISO RGD:730817 D RGD:9068941 20200609 RGD associated with Obesity PMID:11703426|REF_RGD_ID:2313807 12073945 ADORA1 adenosine A1 receptor gene DOID:9007692 Insulin Resistance treatment ISO RGD:2048 D RGD:9068941 20200609 RGD PMID:15220221|REF_RGD_ID:1625243 12073945 ADORA1 adenosine A1 receptor gene DOID:9009131 Ventriculomegaly ISO RGD:2048 D RGD:9068941 20200609 RGD PMID:12151769|REF_RGD_ID:1625283 12073945 ADORA1 adenosine A1 receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12073945 ADORA1 adenosine A1 receptor gene DOID:9970 obesity ISO RGD:730817 D RGD:9068941 20200609 RGD protein:increased expression:visceral adipose tissue:increased density of ligand binding sites on VAT in African American women compared to Caucasian women PMID:16507638|REF_RGD_ID:1625369 12073958 PIERCE1 piercer of microtubule wall 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1353369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12073958 PIERCE1 piercer of microtubule wall 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1353369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12073958 PIERCE1 piercer of microtubule wall 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1353369 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12073958 PIERCE1 piercer of microtubule wall 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12073958 PIERCE1 piercer of microtubule wall 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1353369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12073958 PIERCE1 piercer of microtubule wall 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1353369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12073958 PIERCE1 piercer of microtubule wall 1 gene DOID:3652 Leigh disease ISO RGD:1353369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12073958 PIERCE1 piercer of microtubule wall 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1353369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:28492532|PMID:29907982 12073966 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:0080600 COVID-19 ISO RGD:731028 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12073966 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:10763 hypertension no_association ISO RGD:731028 D RGD:9068941 20200609 RGD DNA:SNP:exon, intron:no association with SNPs in codon 240 in exon 8, codon 398 in exon 12 or intron 6 PMID:15304560|REF_RGD_ID:1580969 12073966 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:10763 hypertension susceptibility ISO RGD:731028 D RGD:9068941 20200609 RGD DNA:snps:exon, intron: (human) PMID:16221215|REF_RGD_ID:1580968 12073966 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:224 transient cerebral ischemia ISO RGD:3668 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus, pyramidal cell PMID:15046873|REF_RGD_ID:1580967 12073966 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:2999 granulosa cell tumor ISO RGD:731028 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.01) PMID:11994539|REF_RGD_ID:2289157 12073966 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:305 carcinoma ISO RGD:731028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12073966 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:3114 serous cystadenocarcinoma ISO RGD:731028 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.01) PMID:11994539|REF_RGD_ID:2289157 12073966 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:3603 mucinous cystadenocarcinoma ISO RGD:731028 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.01) PMID:11994539|REF_RGD_ID:2289157 12073966 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:4676 uremia ISO RGD:731028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18768591 12073966 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:630 genetic disease ISO RGD:731028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12073966 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12073966 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12073966 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:731028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12073966 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:9538 multiple myeloma ISO RGD:731028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12073966 SGK1 serum/glucocorticoid regulated kinase 1 gene DOID:9743 diabetic neuropathy ISO RGD:731028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16696316 12073994 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1320669 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:11978605|PMID:12468279|PMID:15108290|PMID:20301745|PMID:25741868|PMID:28492532 12073994 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0050799 guanidinoacetate methyltransferase deficiency ISO RGD:1320669 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 PMID:11978605|PMID:12468279|PMID:20301745|PMID:25741868|PMID:28492532 12073994 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1320669 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:11978605|PMID:12468279|PMID:20301745|PMID:25741868|PMID:28492532 12073994 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0080600 COVID-19 ISO RGD:1320669 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12073994 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1320669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 12073994 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0112093 nuclear type mitochondrial complex I deficiency 3 ISO RGD:1320669 D RGD:7240710 20190315 OMIM 12073994 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0112093 nuclear type mitochondrial complex I deficiency 3 ISO RGD:1320669 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 PMID:10330338|PMID:10360771|PMID:11004438|PMID:15269216|PMID:17275378|PMID:17604671|PMID:25741868|PMID:26024641|PMID:28492532|PMID:30369941 12073994 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:1059 intellectual disability ISO RGD:1320669 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 12073994 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:3312 bipolar disorder ISO RGD:1320669 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex (human) PMID:20368511|REF_RGD_ID:6484696 12073994 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:3652 Leigh disease ISO RGD:1320669 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:10330338|PMID:10360771|PMID:11004438|PMID:11978605|PMID:12468279|PMID:15269216|PMID:17604671|PMID:20301745|PMID:25741868|PMID:26024641|PMID:28492532|PMID:30369941 12073994 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:5339 cyclic hematopoiesis ISO RGD:1320669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12073994 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:630 genetic disease ISO RGD:1320669 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11978605|PMID:12468279|PMID:20301745|PMID:25741868|PMID:28492532 12073994 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1320669 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:10330338|PMID:10360771|PMID:11004438|PMID:11978605|PMID:12468279|PMID:15269216|PMID:17604671|PMID:20301745|PMID:25741868|PMID:26024641|PMID:28492532|PMID:30369941 12074006 LDHC lactate dehydrogenase C gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1349750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 12074006 LDHC lactate dehydrogenase C gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1349750 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 12074006 LDHC lactate dehydrogenase C gene DOID:1059 intellectual disability ISO RGD:1349750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12074006 LDHC lactate dehydrogenase C gene DOID:12336 male infertility ISO RGD:1349750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21565994|PMID:23486916 12074006 LDHC lactate dehydrogenase C gene DOID:630 genetic disease ISO RGD:1349750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12074006 LDHC lactate dehydrogenase C gene DOID:850 lung disease ISO RGD:1349750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21602193 12074047 PCMTD1 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 gene DOID:630 genetic disease ISO RGD:1602190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12074068 VIM vimentin gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12074068 VIM vimentin gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:733128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12074068 VIM vimentin gene DOID:0080600 COVID-19 ISO RGD:733128 D RGD:9068941 20200709 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 12074068 VIM vimentin gene DOID:0110248 cataract 30 ISO RGD:733128 D RGD:7240710 20180130 OMIM 12074068 VIM vimentin gene DOID:0110248 cataract 30 ISO RGD:733128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CATARACT 30, PULVERULENT | ClinVar Annotator: match by term: Cataract 30 PMID:19126778|PMID:25741868|PMID:26694549|PMID:28450710|PMID:28492532 12074068 VIM vimentin gene DOID:10652 Alzheimer's disease ISO RGD:733128 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19728994|REF_RGD_ID:6480519 12074068 VIM vimentin gene DOID:10652 Alzheimer's disease ISO RGD:733129 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19728994|REF_RGD_ID:6480519 12074068 VIM vimentin gene DOID:12140 Chagas disease ISO RGD:621646 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22199233|REF_RGD_ID:6480538 12074068 VIM vimentin gene DOID:12140 Chagas disease severity ISO RGD:733128 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22199233|REF_RGD_ID:6480538 12074068 VIM vimentin gene DOID:1289 neurodegenerative disease ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16831193 12074068 VIM vimentin gene DOID:12894 Sjogren's syndrome ISO RGD:733128 D RGD:9068941 20200609 RGD PMID:6352937|REF_RGD_ID:6480477 12074068 VIM vimentin gene DOID:13241 Behcet's disease ISO RGD:733128 D RGD:9068941 20200609 RGD PMID:3780056|REF_RGD_ID:6480476 12074068 VIM vimentin gene DOID:1790 malignant mesothelioma ISO RGD:733128 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 12074068 VIM vimentin gene DOID:1936 atherosclerosis ISO RGD:733128 D RGD:9068941 20200609 RGD associated with arthritis,rheumatoid PMID:21362765|REF_RGD_ID:6480618 12074068 VIM vimentin gene DOID:231 motor neuron disease ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16831193 12074068 VIM vimentin gene DOID:2527 nephrosis ISO RGD:621646 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:podocyte PMID:16418842|REF_RGD_ID:6480447 12074068 VIM vimentin gene DOID:2527 nephrosis ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16418842 12074068 VIM vimentin gene DOID:2945 severe acute respiratory syndrome ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26801988 12074068 VIM vimentin gene DOID:3393 coronary artery disease ISO RGD:733128 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:21938407|REF_RGD_ID:6480617 12074068 VIM vimentin gene DOID:3526 cerebral infarction ISO RGD:621646 D RGD:9068941 20200609 RGD PMID:18802758|REF_RGD_ID:6480442 12074068 VIM vimentin gene DOID:4236 carcinosarcoma ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15132766 12074068 VIM vimentin gene DOID:5082 liver cirrhosis ISO RGD:733128 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:25226513|PMID:26396155|PMID:32659284 12074068 VIM vimentin gene DOID:5485 synovial sarcoma ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15043115 12074068 VIM vimentin gene DOID:557 kidney disease ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 12074068 VIM vimentin gene DOID:5679 retinal disease ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 12074068 VIM vimentin gene DOID:630 genetic disease ISO RGD:733128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12074068 VIM vimentin gene DOID:6432 pulmonary hypertension ISO RGD:621646 D RGD:9068941 20200924 RGD protein:increased expression, increased phosphorylation:lung PMID:25593290|REF_RGD_ID:38500244 12074068 VIM vimentin gene DOID:7148 rheumatoid arthritis ISO RGD:733128 D RGD:9068941 20200609 RGD PMID:21792832|REF_RGD_ID:6480508 12074068 VIM vimentin gene DOID:799 varicose veins ISO RGD:733128 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:vein: PMID:26808710|REF_RGD_ID:11529441 12074068 VIM vimentin gene DOID:7998 hyperthyroidism ISO RGD:621646 D RGD:9068941 20200609 RGD protein:increased expression, hyperphosphorylation:testis PMID:17306450|REF_RGD_ID:6480446 12074068 VIM vimentin gene DOID:83 cataract ISO RGD:733128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:26694549 12074068 VIM vimentin gene DOID:8398 osteoarthritis ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16876394|PMID:18784066 12074068 VIM vimentin gene DOID:9000039 Spinal Cord Injuries ISO RGD:621646 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:21250919|REF_RGD_ID:6480511 12074068 VIM vimentin gene DOID:9000039 Spinal Cord Injuries ISO RGD:733129 D RGD:9068941 20200609 RGD PMID:10225952|REF_RGD_ID:6480471 12074068 VIM vimentin gene DOID:9000784 Fibrosis ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 12074068 VIM vimentin gene DOID:9000965 Neoplasm Metastasis ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 12074068 VIM vimentin gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:733128 D RGD:9068941 20220616 RGD associated with stomach cancer; human cells in mouse model PMID:27431311|REF_RGD_ID:152995400 12074068 VIM vimentin gene DOID:9000972 Fever ISO RGD:621646 D RGD:9068941 20200609 RGD protein:increased expression:glial cell PMID:12834255|REF_RGD_ID:1304397 12074068 VIM vimentin gene DOID:9000998 Brain Injuries ISO RGD:621646 D RGD:9068941 20200609 RGD PMID:15527750|REF_RGD_ID:6480527 12074068 VIM vimentin gene DOID:9000998 Brain Injuries ISO RGD:733129 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19728994|REF_RGD_ID:6480519 12074068 VIM vimentin gene DOID:9001036 Penetrating Head Injuries ISO RGD:733129 D RGD:9068941 20200609 RGD PMID:10225952|REF_RGD_ID:6480471 12074068 VIM vimentin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621646 D RGD:9068941 20220520 RGD associated with Schistosomiasis Japonica; mRNA:increased expression:liver (rat) PMID:29323718|REF_RGD_ID:38599216 12074068 VIM vimentin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12074068 VIM vimentin gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:621646 D RGD:9068941 20200609 RGD PMID:19199359|REF_RGD_ID:6480440 12074068 VIM vimentin gene DOID:9001686 Acute Coronary Syndrome ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 12074068 VIM vimentin gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:733128 D RGD:9068941 20200924 RGD protein:increased phosphorylation:lung PMID:25593290|REF_RGD_ID:38500244 12074068 VIM vimentin gene DOID:9001834 Peritoneal Neoplasms ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 12074068 VIM vimentin gene DOID:9002304 Prostatic Neoplasms ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973|PMID:24763052 12074068 VIM vimentin gene DOID:9002457 Experimental Arthritis ISO RGD:621646 D RGD:9068941 20200609 RGD PMID:7516431|REF_RGD_ID:6480480 12074068 VIM vimentin gene DOID:9003919 Urination Disorders ISO RGD:621646 D RGD:9068941 20200609 RGD associated with spinal cord injuries PMID:21250919|REF_RGD_ID:6480511 12074068 VIM vimentin gene DOID:9004009 Reperfusion Injury ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 12074068 VIM vimentin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 12074068 VIM vimentin gene DOID:9004657 Weight Gain ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12074068 VIM vimentin gene DOID:9004771 Vascular Remodeling ISO RGD:621646 D RGD:9068941 20200924 RGD protein:increased phosphorylation:lung PMID:25593290|REF_RGD_ID:38500244 12074068 VIM vimentin gene DOID:9006008 Closed Head Injuries ISO RGD:621646 D RGD:9068941 20200609 RGD PMID:8833197|REF_RGD_ID:6480531 12074068 VIM vimentin gene DOID:9006205 Animal Disease Models ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16831193 12074068 VIM vimentin gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:733128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 12074068 VIM vimentin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12074068 VIM vimentin gene DOID:9007402 Gliosis ISO RGD:621646 D RGD:9068941 20200609 RGD associated with alcohol-induced disorders, nervous system;protein:increased expression:astrocyte PMID:21958862|REF_RGD_ID:6480622 12074068 VIM vimentin gene DOID:9007402 Gliosis ISO RGD:621646 D RGD:9068941 20200609 RGD associated with head injuries, penetrating PMID:15684657|REF_RGD_ID:6480626 12074068 VIM vimentin gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 12074068 VIM vimentin gene DOID:9008939 Breast Neoplasms ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21501481|PMID:24014025|PMID:25330770|PMID:27811057 12074068 VIM vimentin gene DOID:9074 systemic lupus erythematosus ISO RGD:733128 D RGD:9068941 20200609 RGD PMID:3780056|REF_RGD_ID:6480476 12074068 VIM vimentin gene DOID:9351 diabetes mellitus ISO RGD:733128 D RGD:9068941 20220527 RGD associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:increased expression:lung (human) PMID:27411924|REF_RGD_ID:152975631 12074081 C32H4orf17 chromosome 32 C4orf17 homolog gene DOID:630 genetic disease ISO RGD:1352720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12074103 CARMIL2 capping protein regulator and myosin 1 linker 2 gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1605284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 12074103 CARMIL2 capping protein regulator and myosin 1 linker 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12074103 CARMIL2 capping protein regulator and myosin 1 linker 2 gene DOID:0111962 combined immunodeficiency ISO RGD:1605284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25741868|PMID:28112205 12074103 CARMIL2 capping protein regulator and myosin 1 linker 2 gene DOID:0111984 immunodeficiency 58 ISO RGD:1605284 D RGD:7240710 20190315 OMIM 12074103 CARMIL2 capping protein regulator and myosin 1 linker 2 gene DOID:0111984 immunodeficiency 58 ISO RGD:1605284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency PMID:16199547|PMID:25741868|PMID:27647349|PMID:27896283|PMID:28112205|PMID:28492532|PMID:29479355 12074103 CARMIL2 capping protein regulator and myosin 1 linker 2 gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:1605284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined T and B cell immunodeficiency PMID:25741868 12074103 CARMIL2 capping protein regulator and myosin 1 linker 2 gene DOID:630 genetic disease ISO RGD:1605284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12074140 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1348418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12074140 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:0070194 autosomal recessive chronic granulomatous disease 3 ISO RGD:1348418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III PMID:28492532 12074140 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1348418 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12074140 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1348418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12074140 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1348418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12074140 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:2316 brain ischemia ISO RGD:620189 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:7643220|REF_RGD_ID:632531 12074140 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:2841 asthma ISO RGD:620189 D RGD:9068941 20200609 RGD PMID:17145927|REF_RGD_ID:1601020 12074140 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:630 genetic disease ISO RGD:1348418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 12074140 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:9007475 Pulmonary Surfactant Metabolism Dysfunction 5 ISO RGD:1348418 D RGD:7240710 20180130 OMIM 12074140 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:9007475 Pulmonary Surfactant Metabolism Dysfunction 5 ISO RGD:1348418 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 5 PMID:21075760|PMID:21205713|PMID:25741868|PMID:27118405|PMID:28492532 12074162 CEBPZ CCAAT enhancer binding protein zeta gene DOID:0080690 RASopathy ISO RGD:1312755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12074162 CEBPZ CCAAT enhancer binding protein zeta gene DOID:630 genetic disease ISO RGD:1312755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12074185 SLC16A3 solute carrier family 16 member 3 gene DOID:630 genetic disease ISO RGD:731750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12074185 SLC16A3 solute carrier family 16 member 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:731750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27224918 12074185 SLC16A3 solute carrier family 16 member 3 gene DOID:9008939 Breast Neoplasms ISO RGD:731750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22313602 12074207 ZNF792 zinc finger protein 792 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1606468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12074207 ZNF792 zinc finger protein 792 gene DOID:630 genetic disease ISO RGD:1606468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12074214 LRTOMT leucine rich transmembrane and O-methyltransferase domain containing gene DOID:0110515 autosomal recessive nonsyndromic deafness 63 ISO RGD:41410865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 63 PMID:24033266|PMID:25741868 12074214 LRTOMT leucine rich transmembrane and O-methyltransferase domain containing gene DOID:9004538 Hearing Loss ISO RGD:41410865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 12074214 LRTOMT leucine rich transmembrane and O-methyltransferase domain containing gene DOID:9008681 Deafness ISO RGD:41410865 D RGD:9068941 20210521 CTD CTD Direct Evidence: marker/mechanism PMID:18953341 12074246 FAM210B family with sequence similarity 210 member B gene DOID:630 genetic disease ISO RGD:1322807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12074252 CORO1C coronin 1C gene DOID:2986 IgA glomerulonephritis ISO RGD:1314425 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 12074252 CORO1C coronin 1C gene DOID:3908 lung non-small cell carcinoma ISO RGD:1314425 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 12074252 CORO1C coronin 1C gene DOID:630 genetic disease ISO RGD:1314425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12074273 SFN stratifin gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1312341 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12074273 SFN stratifin gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1312341 D RGD:9068941 20211126 RGD protein:increased expression:urothelium (human) PMID:17645415|REF_RGD_ID:2299928 12074273 SFN stratifin gene DOID:1749 squamous cell carcinoma ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12074273 SFN stratifin gene DOID:2101 vulva squamous cell carcinoma ISO RGD:1312341 D RGD:9068941 20200609 RGD DNA, mRNA:hypermethylation, decreased expression:vulva PMID:11896620|REF_RGD_ID:2299936 12074273 SFN stratifin gene DOID:2394 ovarian cancer ISO RGD:1312341 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:16773180|REF_RGD_ID:2299930 12074273 SFN stratifin gene DOID:2394 ovarian cancer disease_progression ISO RGD:1312341 D RGD:9068941 20200609 RGD PMID:15102672|REF_RGD_ID:2299933 12074273 SFN stratifin gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1312341 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:16964403|REF_RGD_ID:2299929 12074273 SFN stratifin gene DOID:2871 endometrial carcinoma ISO RGD:1312341 D RGD:9068941 20200609 RGD PMID:16271083|REF_RGD_ID:2299931 12074273 SFN stratifin gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12074273 SFN stratifin gene DOID:3910 lung adenocarcinoma ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 12074273 SFN stratifin gene DOID:630 genetic disease ISO RGD:1312341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12074273 SFN stratifin gene DOID:684 hepatocellular carcinoma ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12074273 SFN stratifin gene DOID:8719 in situ carcinoma ISO RGD:1312341 D RGD:9068941 20200609 RGD mRNA:decreased expression:vulva PMID:11896620|REF_RGD_ID:2299936 12074273 SFN stratifin gene DOID:9000058 Keloid ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12074273 SFN stratifin gene DOID:9000081 Lymphatic Metastasis ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 12074273 SFN stratifin gene DOID:9000117 Esophageal Neoplasms ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 12074273 SFN stratifin gene DOID:9007364 Mouth Neoplasms ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12074278 THBS1 thrombospondin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1345942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12074278 THBS1 thrombospondin 1 gene DOID:0080177 hepatic veno-occlusive disease ISO RGD:1345942 D RGD:9068941 20230128 CTD CTD Direct Evidence: marker/mechanism PMID:35357534 12074278 THBS1 thrombospondin 1 gene DOID:0080600 COVID-19 ISO RGD:1345942 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 12074278 THBS1 thrombospondin 1 gene DOID:10283 prostate cancer ISO RGD:1588455 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:16076702|REF_RGD_ID:2317961 12074278 THBS1 thrombospondin 1 gene DOID:1063 interstitial nephritis ISO RGD:1345942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16005714 12074278 THBS1 thrombospondin 1 gene DOID:11054 urinary bladder cancer severity ISO RGD:1345942 D RGD:9068941 20200609 RGD protein:decreased expression:bladder PMID:20299037|REF_RGD_ID:13602099 12074278 THBS1 thrombospondin 1 gene DOID:114 heart disease ISO RGD:1588455 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:myocardium PMID:16630453|REF_RGD_ID:2317959 12074278 THBS1 thrombospondin 1 gene DOID:11713 diabetic angiopathy ISO RGD:1345942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 12074278 THBS1 thrombospondin 1 gene DOID:12894 Sjogren's syndrome ISO RGD:1615939 D RGD:9068941 20220825 MouseDO OMIM:270150 12074278 THBS1 thrombospondin 1 gene DOID:1793 pancreatic cancer ISO RGD:1345942 D RGD:9068941 20200609 RGD PMID:16757110|REF_RGD_ID:2325023 12074278 THBS1 thrombospondin 1 gene DOID:1793 pancreatic cancer ISO RGD:1345942 D RGD:9068941 20200609 RGD DNA:hypermethylation (human) PMID:10766168|REF_RGD_ID:2325028 12074278 THBS1 thrombospondin 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1345942 D RGD:9068941 20200609 RGD PMID:20203415|REF_RGD_ID:2325021 12074278 THBS1 thrombospondin 1 gene DOID:2717 Bloom syndrome ISO RGD:1345942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12074278 THBS1 thrombospondin 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1345942 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:19065635|REF_RGD_ID:2325022 12074278 THBS1 thrombospondin 1 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1345942 D RGD:9068941 20200609 RGD PMID:12429967|REF_RGD_ID:2325025 12074278 THBS1 thrombospondin 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1345942 D RGD:9068941 20200609 RGD PMID:16465407|REF_RGD_ID:2325024 12074278 THBS1 thrombospondin 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1345942 D RGD:9068941 20200609 RGD DNA:hypermethylation (human) PMID:12213730|REF_RGD_ID:2325026 12074278 THBS1 thrombospondin 1 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1345942 D RGD:9068941 20200609 RGD PMID:11927969|REF_RGD_ID:2325027 12074278 THBS1 thrombospondin 1 gene DOID:5082 liver cirrhosis ISO RGD:1345942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18407596 12074278 THBS1 thrombospondin 1 gene DOID:5419 schizophrenia ISO RGD:1345942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12074278 THBS1 thrombospondin 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1345942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12074278 THBS1 thrombospondin 1 gene DOID:5844 myocardial infarction ISO RGD:1588455 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium PMID:16179730|REF_RGD_ID:2317960 12074278 THBS1 thrombospondin 1 gene DOID:630 genetic disease ISO RGD:1345942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12074278 THBS1 thrombospondin 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12074278 THBS1 thrombospondin 1 gene DOID:8947 diabetic retinopathy ISO RGD:1345942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17117553 12074278 THBS1 thrombospondin 1 gene DOID:8947 diabetic retinopathy ISO RGD:1588455 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17117553|REF_RGD_ID:2317943 12074278 THBS1 thrombospondin 1 gene DOID:9000011 Gallbladder Neoplasms disease_progression ISO RGD:1345942 D RGD:9068941 20200609 RGD PMID:10427124|REF_RGD_ID:2325029 12074278 THBS1 thrombospondin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1588455 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:19719963|REF_RGD_ID:2317939 12074278 THBS1 thrombospondin 1 gene DOID:9000784 Fibrosis ISO RGD:1345942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16005714 12074278 THBS1 thrombospondin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1615939 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17878288|REF_RGD_ID:2317941 12074278 THBS1 thrombospondin 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1588455 D RGD:9068941 20200609 RGD PMID:20136391|REF_RGD_ID:2317938 12074278 THBS1 thrombospondin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1345942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 12074278 THBS1 thrombospondin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1588455 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:15459484|REF_RGD_ID:1626167 12074278 THBS1 thrombospondin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1588455 D RGD:9068941 20200609 RGD PMID:17640965|REF_RGD_ID:2317942 12074278 THBS1 thrombospondin 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345942 D RGD:9068941 20230128 CTD CTD Direct Evidence: marker/mechanism PMID:35357534 12074278 THBS1 thrombospondin 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1588455 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:16179730|REF_RGD_ID:2317960 12074278 THBS1 thrombospondin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1345942 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9309585 12074278 THBS1 thrombospondin 1 gene DOID:9256 colorectal cancer ISO RGD:1345942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12074278 THBS1 thrombospondin 1 gene DOID:9970 obesity ISO RGD:1345942 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:mononuclear cell, adipose tissue: PMID:24086512|REF_RGD_ID:9681453 12074304 RAB7B RAB7B, member RAS oncogene family gene DOID:11476 osteoporosis ISO RGD:1346465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12074304 RAB7B RAB7B, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:1346465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12074304 RAB7B RAB7B, member RAS oncogene family gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1346465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 12074325 ALKBH8 alkB homolog 8, tRNA methyltransferase gene DOID:0081232 autosomal recessive intellectual developmental disorder 71 ISO RGD:1602194 D RGD:7240710 20190911 OMIM 12074325 ALKBH8 alkB homolog 8, tRNA methyltransferase gene DOID:0081232 autosomal recessive intellectual developmental disorder 71 ISO RGD:1602194 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 71 PMID:25741868|PMID:28492532|PMID:31079898|PMID:33544954 12074325 ALKBH8 alkB homolog 8, tRNA methyltransferase gene DOID:1059 intellectual disability ISO RGD:1602194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12074325 ALKBH8 alkB homolog 8, tRNA methyltransferase gene DOID:12704 ataxia telangiectasia ISO RGD:1602194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12074325 ALKBH8 alkB homolog 8, tRNA methyltransferase gene DOID:630 genetic disease ISO RGD:1602194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12074325 ALKBH8 alkB homolog 8, tRNA methyltransferase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1602194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12074325 ALKBH8 alkB homolog 8, tRNA methyltransferase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1602194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 12074325 ALKBH8 alkB homolog 8, tRNA methyltransferase gene DOID:9008939 Breast Neoplasms ISO RGD:1602194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 12074347 PLCG2 phospholipase C gamma 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:732989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28067908 12074347 PLCG2 phospholipase C gamma 2 gene DOID:0090061 familial cold autoinflammatory syndrome ISO RGD:732989 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome PMID:25741868 12074347 PLCG2 phospholipase C gamma 2 gene DOID:0090064 familial cold autoinflammatory syndrome 3 ISO RGD:732989 D RGD:7240710 20180130 OMIM 12074347 PLCG2 phospholipase C gamma 2 gene DOID:0090064 familial cold autoinflammatory syndrome 3 ISO RGD:732989 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 PMID:16199547|PMID:17576681|PMID:22236196|PMID:24033266|PMID:24869598|PMID:25640679|PMID:25741868|PMID:27577878|PMID:28166811|PMID:28492532|PMID:29590070|PMID:29921932|PMID:30273710|PMID:30344948|PMID:30619256|PMID:31853824|PMID:32047491|PMID:33859323|PMID:9536098 12074347 PLCG2 phospholipase C gamma 2 gene DOID:10652 Alzheimer's disease ISO RGD:732989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28714976 12074347 PLCG2 phospholipase C gamma 2 gene DOID:630 genetic disease ISO RGD:732989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12074347 PLCG2 phospholipase C gamma 2 gene DOID:9000972 Fever ISO RGD:732989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic fever 12074347 PLCG2 phospholipase C gamma 2 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:732989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia PMID:24869598|PMID:28492532 12074347 PLCG2 phospholipase C gamma 2 gene DOID:9005237 Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated ISO RGD:732989 D RGD:7240710 20180130 OMIM 12074347 PLCG2 phospholipase C gamma 2 gene DOID:9005237 Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated ISO RGD:732989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation syndrome | ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated PMID:23000145|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30619256|PMID:34298581 12074347 PLCG2 phospholipase C gamma 2 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:732989 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED PMID:24033266|PMID:25741868|PMID:28492532|PMID:30619256 12074392 KIF21B kinesin family member 21B gene DOID:0050453 lissencephaly ISO RGD:1343896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pachygyria PMID:25741868 12074392 KIF21B kinesin family member 21B gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1343896 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12074392 KIF21B kinesin family member 21B gene DOID:1540 parathyroid carcinoma ISO RGD:1343896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12074392 KIF21B kinesin family member 21B gene DOID:2843 long QT syndrome ISO RGD:1343896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12074392 KIF21B kinesin family member 21B gene DOID:630 genetic disease ISO RGD:1343896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12074392 KIF21B kinesin family member 21B gene DOID:8577 ulcerative colitis ISO RGD:1343896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 12074392 KIF21B kinesin family member 21B gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1343896 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12074392 KIF21B kinesin family member 21B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343896 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KIF21B-related Neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32415109 12074392 KIF21B kinesin family member 21B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12074437 DTL denticleless E3 ubiquitin protein ligase homolog gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1604818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12074437 DTL denticleless E3 ubiquitin protein ligase homolog gene DOID:0080600 COVID-19 ISO RGD:1604818 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12074437 DTL denticleless E3 ubiquitin protein ligase homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1604818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12074437 DTL denticleless E3 ubiquitin protein ligase homolog gene DOID:630 genetic disease ISO RGD:1604818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12074437 DTL denticleless E3 ubiquitin protein ligase homolog gene DOID:684 hepatocellular carcinoma ISO RGD:1604818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12074437 DTL denticleless E3 ubiquitin protein ligase homolog gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1604818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12074437 DTL denticleless E3 ubiquitin protein ligase homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12074464 GORAB golgin, RAB6 interacting gene DOID:0111266 geroderma osteodysplasticum ISO RGD:1603372 D RGD:7240710 20180130 OMIM 12074464 GORAB golgin, RAB6 interacting gene DOID:0111266 geroderma osteodysplasticum ISO RGD:1603372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Geroderma osteodysplastica PMID:18997784|PMID:19681135|PMID:25741868|PMID:28492532|PMID:31829210|PMID:631850 12074464 GORAB golgin, RAB6 interacting gene DOID:11476 osteoporosis ISO RGD:1603372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18997784 12074464 GORAB golgin, RAB6 interacting gene DOID:1540 parathyroid carcinoma ISO RGD:1603372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12074464 GORAB golgin, RAB6 interacting gene DOID:630 genetic disease ISO RGD:1603372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18997784|PMID:19681135|PMID:28492532|PMID:28807865 12074464 GORAB golgin, RAB6 interacting gene DOID:9001946 Skin Abnormalities ISO RGD:1603372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18997784 12074464 GORAB golgin, RAB6 interacting gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1603372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12074464 GORAB golgin, RAB6 interacting gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12074494 KCTD21 potassium channel tetramerization domain containing 21 gene DOID:1059 intellectual disability ISO RGD:1603870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12074494 KCTD21 potassium channel tetramerization domain containing 21 gene DOID:630 genetic disease ISO RGD:1603870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12074503 PPP6C protein phosphatase 6 catalytic subunit gene DOID:1909 melanoma ISO RGD:734407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 12074503 PPP6C protein phosphatase 6 catalytic subunit gene DOID:2513 basal cell carcinoma ISO RGD:734407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 12074503 PPP6C protein phosphatase 6 catalytic subunit gene DOID:3907 lung squamous cell carcinoma ISO RGD:734407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26619011 12074503 PPP6C protein phosphatase 6 catalytic subunit gene DOID:630 genetic disease ISO RGD:734407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12074503 PPP6C protein phosphatase 6 catalytic subunit gene DOID:8923 skin melanoma ISO RGD:734407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:26619011 12074514 CCDC105 coiled-coil domain containing 105 gene DOID:630 genetic disease ISO RGD:1602986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12074525 FAM120A family with sequence similarity 120A gene DOID:12642 hiatus hernia ISO RGD:1315374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hiatus hernia 12074525 FAM120A family with sequence similarity 120A gene DOID:630 genetic disease ISO RGD:1315374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12074547 STRN4 striatin 4 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1315983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 12074547 STRN4 striatin 4 gene DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ISO RGD:1315983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2I PMID:25741868 12074547 STRN4 striatin 4 gene DOID:0110644 long QT syndrome 1 ISO RGD:1315983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:28492532 12074547 STRN4 striatin 4 gene DOID:0111241 congenital muscular dystrophy-dystroglycanopathy type A5 ISO RGD:1315983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 PMID:25741868 12074547 STRN4 striatin 4 gene DOID:630 genetic disease ISO RGD:1315983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12074584 PLB1 phospholipase B1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1346755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12074584 PLB1 phospholipase B1 gene DOID:10283 prostate cancer ISO RGD:1346755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12074584 PLB1 phospholipase B1 gene DOID:630 genetic disease ISO RGD:1346755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12074584 PLB1 phospholipase B1 gene DOID:7148 rheumatoid arthritis ISO RGD:1346755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24520335 12074650 LEFTY1 left-right determination factor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1350904 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12074650 LEFTY1 left-right determination factor 1 gene DOID:630 genetic disease ISO RGD:1350904 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12074650 LEFTY1 left-right determination factor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350904 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12074657 CNFN cornifelin gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1350274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12074657 CNFN cornifelin gene DOID:1342 congenital hypoplastic anemia ISO RGD:1350274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12074657 CNFN cornifelin gene DOID:2340 craniosynostosis ISO RGD:1350274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12074657 CNFN cornifelin gene DOID:5419 schizophrenia ISO RGD:1350274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12074657 CNFN cornifelin gene DOID:630 genetic disease ISO RGD:1350274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12074657 CNFN cornifelin gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1350274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12074657 CNFN cornifelin gene DOID:9269 maple syrup urine disease ISO RGD:1350274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12074674 LOC100855640 butyrophilin subfamily 2 member A2 gene DOID:630 genetic disease ISO RGD:1315891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12074688 MIR340 microRNA mir-340 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1352110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12074688 MIR340 microRNA mir-340 gene DOID:1909 melanoma ISO RGD:1352110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25043973 12074688 MIR340 microRNA mir-340 gene DOID:684 hepatocellular carcinoma ISO RGD:1352110 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver PMID:27998770|REF_RGD_ID:18936991 12074688 MIR340 microRNA mir-340 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1352110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12074688 MIR340 microRNA mir-340 gene DOID:9002221 Hyperplasia ISO RGD:1352110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 12074777 RTL5 retrotransposon Gag like 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12074777 RTL5 retrotransposon Gag like 5 gene DOID:12849 autistic disorder ISO RGD:1350874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12074777 RTL5 retrotransposon Gag like 5 gene DOID:630 genetic disease ISO RGD:1350874 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12074823 FNDC3A fibronectin type III domain containing 3A gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1354235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12074823 FNDC3A fibronectin type III domain containing 3A gene DOID:1059 intellectual disability ISO RGD:1354235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12074823 FNDC3A fibronectin type III domain containing 3A gene DOID:630 genetic disease ISO RGD:1354235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12074878 GPR63 G protein-coupled receptor 63 gene DOID:630 genetic disease ISO RGD:1315091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12074886 BCL2 BCL2 apoptosis regulator gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 12074886 BCL2 BCL2 apoptosis regulator gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:733100 D RGD:9068941 20220825 RGD protein:increased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 12074886 BCL2 BCL2 apoptosis regulator gene DOID:0050873 follicular lymphoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12855623|PMID:3287162 12074886 BCL2 BCL2 apoptosis regulator gene DOID:0050873 follicular lymphoma ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:3287162|REF_RGD_ID:734639 12074886 BCL2 BCL2 apoptosis regulator gene DOID:0050873 follicular lymphoma susceptibility ISO RGD:733100 D RGD:9068941 20200609 RGD DNA:translocation: ;t(14;18)(q32;q21) PMID:16671111|REF_RGD_ID:1599473 12074886 BCL2 BCL2 apoptosis regulator gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26239085|PMID:3287162 12074886 BCL2 BCL2 apoptosis regulator gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:12628841|REF_RGD_ID:2289659 12074886 BCL2 BCL2 apoptosis regulator gene DOID:0060108 brain glioma treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:27255231|PMID:29324390|REF_RGD_ID:13792502|REF_RGD_ID:13792598 12074886 BCL2 BCL2 apoptosis regulator gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:733100 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12074886 BCL2 BCL2 apoptosis regulator gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:733100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 12074886 BCL2 BCL2 apoptosis regulator gene DOID:0111142 oligomeganephronia ISO RGD:10230 D RGD:9068941 20220825 MouseDO 12074886 BCL2 BCL2 apoptosis regulator gene DOID:10283 prostate cancer ISO RGD:733100 D RGD:9068941 20201023 RGD PMID:16984224|PMID:18084610|REF_RGD_ID:2292512|REF_RGD_ID:2293015 12074886 BCL2 BCL2 apoptosis regulator gene DOID:10283 prostate cancer disease_progression ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:17850375|REF_RGD_ID:2293017 12074886 BCL2 BCL2 apoptosis regulator gene DOID:10534 stomach cancer treatment ISO RGD:733100 D RGD:9068941 20210611 RGD human cells in mouse model PMID:29408335|REF_RGD_ID:127284846 12074886 BCL2 BCL2 apoptosis regulator gene DOID:10652 Alzheimer's disease ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:16265626|PMID:17639989|REF_RGD_ID:10054047|REF_RGD_ID:2293073 12074886 BCL2 BCL2 apoptosis regulator gene DOID:10652 Alzheimer's disease ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18077176 12074886 BCL2 BCL2 apoptosis regulator gene DOID:10652 Alzheimer's disease ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:temporal cortex, membrane PMID:9507158|REF_RGD_ID:10053642 12074886 BCL2 BCL2 apoptosis regulator gene DOID:10652 Alzheimer's disease treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:21585051|PMID:26897372|PMID:29587274|PMID:29777699|REF_RGD_ID:10054049|REF_RGD_ID:11522767|REF_RGD_ID:13782186|REF_RGD_ID:13782188 12074886 BCL2 BCL2 apoptosis regulator gene DOID:10763 hypertension ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10075388 12074886 BCL2 BCL2 apoptosis regulator gene DOID:10763 hypertension treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:20065158|REF_RGD_ID:10053702 12074886 BCL2 BCL2 apoptosis regulator gene DOID:10808 gastric ulcer treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:24378970|REF_RGD_ID:10053695 12074886 BCL2 BCL2 apoptosis regulator gene DOID:10941 intracranial aneurysm treatment ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:25316629|REF_RGD_ID:11522723 12074886 BCL2 BCL2 apoptosis regulator gene DOID:11054 urinary bladder cancer ISO RGD:733100 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:18094410|REF_RGD_ID:2293014 12074886 BCL2 BCL2 apoptosis regulator gene DOID:11054 urinary bladder cancer ISO RGD:733100 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 12074886 BCL2 BCL2 apoptosis regulator gene DOID:11054 urinary bladder cancer severity ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:18342927|REF_RGD_ID:2292910 12074886 BCL2 BCL2 apoptosis regulator gene DOID:11476 osteoporosis treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:22648569|REF_RGD_ID:10054093 12074886 BCL2 BCL2 apoptosis regulator gene DOID:11612 polycystic ovary syndrome ISO RGD:2199 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:21062263|REF_RGD_ID:10054496 12074886 BCL2 BCL2 apoptosis regulator gene DOID:11612 polycystic ovary syndrome ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21062263 12074886 BCL2 BCL2 apoptosis regulator gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2199 D RGD:9068941 20200609 RGD protein:decreased expression:cardiomyocyte PMID:25820375|REF_RGD_ID:13792650 12074886 BCL2 BCL2 apoptosis regulator gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733100 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:25209900|REF_RGD_ID:11558015 12074886 BCL2 BCL2 apoptosis regulator gene DOID:12336 male infertility ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24723216 12074886 BCL2 BCL2 apoptosis regulator gene DOID:127 leiomyoma ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:myometrium PMID:16962107|REF_RGD_ID:1643479 12074886 BCL2 BCL2 apoptosis regulator gene DOID:127 leiomyoma treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:23789224|REF_RGD_ID:10054112 12074886 BCL2 BCL2 apoptosis regulator gene DOID:12849 autistic disorder ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11814262|PMID:20375269 12074886 BCL2 BCL2 apoptosis regulator gene DOID:12858 Huntington's disease ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:11299004|REF_RGD_ID:10054041 12074886 BCL2 BCL2 apoptosis regulator gene DOID:12930 dilated cardiomyopathy ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:26004897|REF_RGD_ID:13782348 12074886 BCL2 BCL2 apoptosis regulator gene DOID:1307 dementia treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:21473886|REF_RGD_ID:10054040 12074886 BCL2 BCL2 apoptosis regulator gene DOID:14018 alcoholic liver cirrhosis ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 12074886 BCL2 BCL2 apoptosis regulator gene DOID:14221 abdominal obesity-metabolic syndrome 1 treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:27131981|REF_RGD_ID:13792503 12074886 BCL2 BCL2 apoptosis regulator gene DOID:14227 azoospermia ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20610805 12074886 BCL2 BCL2 apoptosis regulator gene DOID:1686 glaucoma ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA:decreased expression:optic nerve, retina PMID:24357921|REF_RGD_ID:10054098 12074886 BCL2 BCL2 apoptosis regulator gene DOID:1749 squamous cell carcinoma disease_progression ISO RGD:2199 D RGD:9068941 20200609 RGD Protein:increased expression:tongue;associated with mouth neoplasms PMID:16309543|REF_RGD_ID:1599477 12074886 BCL2 BCL2 apoptosis regulator gene DOID:1790 malignant mesothelioma ISO RGD:733100 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:16850164 12074886 BCL2 BCL2 apoptosis regulator gene DOID:1824 status epilepticus ISO RGD:2199 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:18076646|REF_RGD_ID:2293065 12074886 BCL2 BCL2 apoptosis regulator gene DOID:1824 status epilepticus treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:22842798|REF_RGD_ID:11522734 12074886 BCL2 BCL2 apoptosis regulator gene DOID:1875 impotence ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:12394778|REF_RGD_ID:1579980 12074886 BCL2 BCL2 apoptosis regulator gene DOID:1875 impotence ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12394778 12074886 BCL2 BCL2 apoptosis regulator gene DOID:1875 impotence treatment ISO RGD:2199 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21235725|REF_RGD_ID:10053666 12074886 BCL2 BCL2 apoptosis regulator gene DOID:1909 melanoma severity ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:lymph node (human) PMID:8783649|REF_RGD_ID:11526106 12074886 BCL2 BCL2 apoptosis regulator gene DOID:2055 post-traumatic stress disorder ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:23381833|REF_RGD_ID:10054113 12074886 BCL2 BCL2 apoptosis regulator gene DOID:219 colon cancer treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:21214291|REF_RGD_ID:10053668 12074886 BCL2 BCL2 apoptosis regulator gene DOID:224 transient cerebral ischemia ISO RGD:2199 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:18083315|REF_RGD_ID:2290557 12074886 BCL2 BCL2 apoptosis regulator gene DOID:224 transient cerebral ischemia treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:16732092|PMID:22509406|REF_RGD_ID:11522725|REF_RGD_ID:11561910 12074886 BCL2 BCL2 apoptosis regulator gene DOID:2256 osteochondrodysplasia ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17954590 12074886 BCL2 BCL2 apoptosis regulator gene DOID:2316 brain ischemia treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:15585409|REF_RGD_ID:11522731 12074886 BCL2 BCL2 apoptosis regulator gene DOID:234 colon adenocarcinoma treatment ISO RGD:733100 D RGD:9068941 20210528 RGD human cells in mouse model PMID:32504672|REF_RGD_ID:125097526 12074886 BCL2 BCL2 apoptosis regulator gene DOID:2560 morphine dependence treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:24906198|REF_RGD_ID:10054248 12074886 BCL2 BCL2 apoptosis regulator gene DOID:2671 transitional cell carcinoma ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:18047955|REF_RGD_ID:1643477 12074886 BCL2 BCL2 apoptosis regulator gene DOID:2741 bilirubin metabolic disorder ISO RGD:2199 D RGD:9068941 20200609 RGD protein:decreased expression:platelet (rat) PMID:26459859|REF_RGD_ID:11522763 12074886 BCL2 BCL2 apoptosis regulator gene DOID:2773 contact dermatitis ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12074886 BCL2 BCL2 apoptosis regulator gene DOID:2841 asthma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18357729 12074886 BCL2 BCL2 apoptosis regulator gene DOID:289 endometriosis ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:17693084|REF_RGD_ID:2293018 12074886 BCL2 BCL2 apoptosis regulator gene DOID:289 endometriosis treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:23406865|PMID:25937801|REF_RGD_ID:11353846|REF_RGD_ID:7257718 12074886 BCL2 BCL2 apoptosis regulator gene DOID:299 adenocarcinoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 12074886 BCL2 BCL2 apoptosis regulator gene DOID:3021 acute kidney failure ISO RGD:2199 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:20037173|REF_RGD_ID:10053672 12074886 BCL2 BCL2 apoptosis regulator gene DOID:3042 allergic contact dermatitis ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 12074886 BCL2 BCL2 apoptosis regulator gene DOID:305 carcinoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10426811 12074886 BCL2 BCL2 apoptosis regulator gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:10230 D RGD:9068941 20200609 RGD PMID:10582606|REF_RGD_ID:13506907 12074886 BCL2 BCL2 apoptosis regulator gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:23143152|REF_RGD_ID:10054501 12074886 BCL2 BCL2 apoptosis regulator gene DOID:3721 plasmacytoma susceptibility ISO RGD:733100 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:14695177|REF_RGD_ID:11526108 12074886 BCL2 BCL2 apoptosis regulator gene DOID:4450 renal cell carcinoma ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:18283311|REF_RGD_ID:2298896 12074886 BCL2 BCL2 apoptosis regulator gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:17482919|REF_RGD_ID:2293019 12074886 BCL2 BCL2 apoptosis regulator gene DOID:4468 clear cell adenocarcinoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9754764 12074886 BCL2 BCL2 apoptosis regulator gene DOID:4481 allergic rhinitis ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nasal mucosa (rat) PMID:15362690|REF_RGD_ID:11522724 12074886 BCL2 BCL2 apoptosis regulator gene DOID:4545 mesenchymal chondrosarcoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12817616 12074886 BCL2 BCL2 apoptosis regulator gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:12234300|REF_RGD_ID:1579984 12074886 BCL2 BCL2 apoptosis regulator gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:733100 D RGD:9068941 20210521 RGD DNA:SNPs:3'utr: (rs720321, rs17757541) (human) PMID:21472143|REF_RGD_ID:126925218 12074886 BCL2 BCL2 apoptosis regulator gene DOID:5295 intestinal disease treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:24228095|REF_RGD_ID:10058972 12074886 BCL2 BCL2 apoptosis regulator gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:733100 D RGD:9068941 20200609 RGD DNA:SNP: :rs2279115(human) PMID:26311051|REF_RGD_ID:13673911 12074886 BCL2 BCL2 apoptosis regulator gene DOID:5485 synovial sarcoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16450387 12074886 BCL2 BCL2 apoptosis regulator gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23471820 12074886 BCL2 BCL2 apoptosis regulator gene DOID:5844 myocardial infarction ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19027736 12074886 BCL2 BCL2 apoptosis regulator gene DOID:6000 congestive heart failure treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:18097624|PMID:29746994|REF_RGD_ID:10054097|REF_RGD_ID:13792577 12074886 BCL2 BCL2 apoptosis regulator gene DOID:630 genetic disease ISO RGD:733100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12074886 BCL2 BCL2 apoptosis regulator gene DOID:6432 pulmonary hypertension ISO RGD:2199 D RGD:9068941 20200609 RGD protein:decreased expression:heart right ventricle PMID:18441466|REF_RGD_ID:2293022 12074886 BCL2 BCL2 apoptosis regulator gene DOID:657 adenoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10223192|PMID:10426811 12074886 BCL2 BCL2 apoptosis regulator gene DOID:684 hepatocellular carcinoma ISO RGD:10230 D RGD:9068941 20210702 RGD mRNA:increased expression:liver (mouse) PMID:28100771|REF_RGD_ID:127285675 12074886 BCL2 BCL2 apoptosis regulator gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2199 D RGD:9068941 20220714 RGD PMID:33841550|REF_RGD_ID:152998960 12074886 BCL2 BCL2 apoptosis regulator gene DOID:783 end stage renal disease treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:20424483|REF_RGD_ID:11522730 12074886 BCL2 BCL2 apoptosis regulator gene DOID:8398 osteoarthritis ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:19217321|REF_RGD_ID:10053643 12074886 BCL2 BCL2 apoptosis regulator gene DOID:8398 osteoarthritis ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:chondrocyte PMID:16864079|REF_RGD_ID:10054095 12074886 BCL2 BCL2 apoptosis regulator gene DOID:8466 retinal degeneration ISO RGD:2199 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:24166353|REF_RGD_ID:11522757 12074886 BCL2 BCL2 apoptosis regulator gene DOID:8466 retinal degeneration ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8692941 12074886 BCL2 BCL2 apoptosis regulator gene DOID:8466 retinal degeneration treatment ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:10704489|REF_RGD_ID:8554863 12074886 BCL2 BCL2 apoptosis regulator gene DOID:8927 learning disability ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17967740 12074886 BCL2 BCL2 apoptosis regulator gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:18561741|REF_RGD_ID:2298889 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9000011 Gallbladder Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16904648 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:27256506|REF_RGD_ID:13792677 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9000081 Lymphatic Metastasis ISO RGD:733100 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:lymph node PMID:18217456|REF_RGD_ID:2293013 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9000099 Experimental Colitis treatment ISO RGD:2199 D RGD:9068941 20220623 RGD PMID:29572553|REF_RGD_ID:152995414 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9000117 Esophageal Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9000156 Metaplasia ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12704018 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9000288 Chronic Intermittent Hypoxia treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:26769958|REF_RGD_ID:13792505 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:26163325|REF_RGD_ID:13782347 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9000918 Disease Progression ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686|PMID:21750559 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9000965 Neoplasm Metastasis ISO RGD:733100 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:16826579|REF_RGD_ID:2293020 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9000965 Neoplasm Metastasis ISO RGD:733100 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell PMID:12810203|REF_RGD_ID:2293021 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9000998 Brain Injuries ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:18093155|REF_RGD_ID:2293059 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9000998 Brain Injuries treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:20888848|REF_RGD_ID:10054247 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9001390 Testis Reperfusion Injury ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:26754107|REF_RGD_ID:11555349 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:17938867|REF_RGD_ID:2293129 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:24218972|REF_RGD_ID:10054116 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10426811|PMID:28100771 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9001708 Hemorrhagic Shock ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA:increased expression:intestine PMID:17693937|REF_RGD_ID:2293072 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:25535961|REF_RGD_ID:11522737 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:21092002|REF_RGD_ID:5134995 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2199 D RGD:9068941 20200609 RGD associated with Non-alcoholic Fatty Liver Disease PMID:22847887|REF_RGD_ID:10053710 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21750559|PMID:23770605 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia no_association ISO RGD:733100 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-938C>A (human) PMID:17959858|REF_RGD_ID:11526105 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:733100 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-938C>A (human) PMID:16960146|REF_RGD_ID:11526104 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:B cell (human) PMID:20001236|REF_RGD_ID:11526110 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia treatment ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:17296974|REF_RGD_ID:11522735 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:22932950|REF_RGD_ID:10054114 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9002245 Intestinal Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10223192 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9002283 Experimental Allergic Asthma treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:29713367|REF_RGD_ID:13792581 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9002304 Prostatic Neoplasms ISO RGD:10230 D RGD:9068941 20200609 RGD PMID:18317887|REF_RGD_ID:2291908 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9002304 Prostatic Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16733517 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9002331 Knee Osteoarthritis treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:20131282|REF_RGD_ID:6907382 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9002395 Hypothermia ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland ventral lobe (rat) PMID:25996932|REF_RGD_ID:10402397 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9002457 Experimental Arthritis ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:21199477|REF_RGD_ID:10054249 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:22978269|REF_RGD_ID:10054498 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9002644 Premature Aging treatment ISO RGD:10230 D RGD:9068941 20200609 RGD PMID:21359432|REF_RGD_ID:6480478 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9002676 Cerebral Hemorrhage ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12721362 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:18006758|REF_RGD_ID:2298897 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9002928 Colonic Neoplasms ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:17404573|REF_RGD_ID:2293078 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9002928 Colonic Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10223192|PMID:17404573|PMID:19147571 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9002955 Nerve Degeneration ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11146106|PMID:17967740 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:2199 D RGD:9068941 20230128 RGD PMID:21189961|PMID:24089674|PMID:29635023|REF_RGD_ID:10054502|REF_RGD_ID:13782292|REF_RGD_ID:155882465 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9004009 Reperfusion Injury ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15449323 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9004038 Kashin-Beck Disease ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:articular cartilage, chondrocyte PMID:16511931|REF_RGD_ID:10054094 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9004610 Acute Lung Injury ISO RGD:2199 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:20663300|REF_RGD_ID:10054109 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9005181 Multi-Infarct Dementia treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:18938189|REF_RGD_ID:10054050 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:22668016|PMID:23404339|REF_RGD_ID:10053670|REF_RGD_ID:10054128 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9005539 Familial Prostate Cancer ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9005562 AIDS-Related Kaposi Sarcoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10861090 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA:decreased expression:embryo PMID:15649569|REF_RGD_ID:1599491 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2199 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18991018|REF_RGD_ID:2311240 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16959961|PMID:23090186 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9005749 Necrosis ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11781163|PMID:16532269 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9005873 Tongue Neoplasms ISO RGD:2199 D RGD:9068941 20200609 RGD protein:increased expression:tongue: PMID:12167434|REF_RGD_ID:8547871 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9005930 Endotoxemia ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA:decreased expression:diaphragm PMID:23940949|REF_RGD_ID:10054120 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9006169 Head and Neck Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18566236 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:18221257|REF_RGD_ID:2293026 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:29285062|REF_RGD_ID:13792599 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:23953793|REF_RGD_ID:10054119 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:733100 D RGD:9068941 20201218 RGD protein:increased expression:natural killer cell, T cell (human) PMID:26541527|REF_RGD_ID:40902860 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:10230 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased phosphorylation:myocardium (mouse) PMID:21474815|REF_RGD_ID:11522727 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:2199 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21296063|REF_RGD_ID:10053697 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:22014268|REF_RGD_ID:10054500 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:10230 D RGD:9068941 20230406 RGD associated with myocardial infarction PMID:25726944|REF_RGD_ID:11252030 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9007429 Soft Tissue Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16450387 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22666341|PMID:2543982|PMID:2848196 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9007715 Endometrial Neoplasms severity ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:18386458|REF_RGD_ID:2298890 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9007730 Burns treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:22153006|REF_RGD_ID:10054126 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:16289365|REF_RGD_ID:1599484 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2199 D RGD:9068941 20220923 RGD PMID:20821058|PMID:23364609|PMID:31583047|REF_RGD_ID:10053674|REF_RGD_ID:11561911|REF_RGD_ID:155230831 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9008023 Memory Disorders ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17967740 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9008091 Optic Nerve Injuries ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA:decreased expression:optic nerve, retina PMID:24357921|REF_RGD_ID:10054098 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9008443 Colorectal Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18949393 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9008622 Adrenal Insufficiency ISO RGD:2199 D RGD:9068941 20200609 RGD associated with Pancreatitis, Acute Necrotizing;protein:decreased expression:adrenal cortex PMID:21161352|REF_RGD_ID:6482719 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9008824 Sarcopenia ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA:decreased expression:plantaris PMID:17029665|REF_RGD_ID:2325745 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9008939 Breast Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12517783|PMID:16954440|PMID:23621182 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9008939 Breast Neoplasms ISO RGD:733100 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections;protein:increased expression:breast PMID:18427947|REF_RGD_ID:2292909 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:733100 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-938C>A PMID:17908970|REF_RGD_ID:2293016 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:18430249|REF_RGD_ID:2292908 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9119 acute myeloid leukemia ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23906301 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9119 acute myeloid leukemia severity ISO RGD:733100 D RGD:9068941 20200609 RGD DNA:snp:exon:c.+21A>G (rs1801018) (human) PMID:19520430|REF_RGD_ID:11526111 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9119 acute myeloid leukemia severity ISO RGD:733100 D RGD:9068941 20200609 RGD ratio with Flt3, Kit;mRNA:decreased expression:mononuclear cell (human) PMID:25216797|REF_RGD_ID:11526109 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:733100 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-938C>A (human) PMID:25957891|REF_RGD_ID:11526107 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:epithelium of nasopharynx (human) PMID:12099337|REF_RGD_ID:11526103 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9286 priapism ISO RGD:2199 D RGD:9068941 20200609 RGD protein:increased expression:erectile tissue (rat) PMID:21085184|REF_RGD_ID:10412315 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:23032698|REF_RGD_ID:10053698 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16959961|PMID:31626838 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9538 multiple myeloma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12429644 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9655 oral mucosa leukoplakia ISO RGD:2199 D RGD:9068941 20200609 RGD protein:increased expression:tongue: PMID:12167434|REF_RGD_ID:8547871 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9952 acute lymphoblastic leukemia severity ISO RGD:733100 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow (human) PMID:25982455|REF_RGD_ID:11076595 12074886 BCL2 BCL2 apoptosis regulator gene DOID:9970 obesity ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart left ventricle PMID:18202171|REF_RGD_ID:2293027 12074893 VPS36 vacuolar protein sorting 36 homolog gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1320260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12074893 VPS36 vacuolar protein sorting 36 homolog gene DOID:1059 intellectual disability ISO RGD:1320260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12074893 VPS36 vacuolar protein sorting 36 homolog gene DOID:630 genetic disease ISO RGD:1320260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12074928 LATS2 large tumor suppressor kinase 2 gene DOID:1788 peritoneal mesothelioma ISO RGD:1314216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant peritoneal mesothelioma 12074928 LATS2 large tumor suppressor kinase 2 gene DOID:3069 malignant astrocytoma ISO RGD:1314216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17049657 12074928 LATS2 large tumor suppressor kinase 2 gene DOID:630 genetic disease ISO RGD:1314216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12074928 LATS2 large tumor suppressor kinase 2 gene DOID:9256 colorectal cancer treatment ISO RGD:1314216 D RGD:9068941 20220728 RGD Human cells in mouse model PMID:32682784|REF_RGD_ID:153297782 12074939 KCNJ13 potassium inwardly rectifying channel subfamily J member 13 gene DOID:0060476 Perlman syndrome ISO RGD:734216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12074939 KCNJ13 potassium inwardly rectifying channel subfamily J member 13 gene DOID:0110118 Leber congenital amaurosis 16 ISO RGD:734216 D RGD:7240710 20180130 OMIM 12074939 KCNJ13 potassium inwardly rectifying channel subfamily J member 13 gene DOID:0110118 Leber congenital amaurosis 16 ISO RGD:734216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 16 PMID:18179896|PMID:21763485|PMID:23255580|PMID:23977131|PMID:25326637|PMID:25475713|PMID:25741868|PMID:25921210|PMID:27203561|PMID:28492532|PMID:29068479 12074939 KCNJ13 potassium inwardly rectifying channel subfamily J member 13 gene DOID:0110991 Joubert syndrome 22 ISO RGD:734216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12074939 KCNJ13 potassium inwardly rectifying channel subfamily J member 13 gene DOID:0111570 snowflake vitreoretinal degeneration ISO RGD:734216 D RGD:7240710 20180130 OMIM 12074939 KCNJ13 potassium inwardly rectifying channel subfamily J member 13 gene DOID:0111570 snowflake vitreoretinal degeneration ISO RGD:734216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Snowflake vitreoretinal degeneration PMID:18179896|PMID:23255580|PMID:23977131|PMID:25741868|PMID:28492532|PMID:33546218 12074939 KCNJ13 potassium inwardly rectifying channel subfamily J member 13 gene DOID:14791 Leber congenital amaurosis ISO RGD:734216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25326637 12074939 KCNJ13 potassium inwardly rectifying channel subfamily J member 13 gene DOID:630 genetic disease ISO RGD:734216 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12074939 KCNJ13 potassium inwardly rectifying channel subfamily J member 13 gene DOID:8501 fundus dystrophy ISO RGD:734216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 12074954 ACADS acyl-CoA dehydrogenase short chain gene DOID:0080154 short chain acyl-CoA dehydrogenase deficiency ISO RGD:732202 D RGD:7240710 20180130 OMIM 12074954 ACADS acyl-CoA dehydrogenase short chain gene DOID:0080154 short chain acyl-CoA dehydrogenase deficiency ISO RGD:732202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase PMID:11134486|PMID:12736383|PMID:12872838|PMID:14506246|PMID:14568186|PMID:14595061|PMID:16199547|PMID:16546179|PMID:16906473|PMID:1692038|PMID:16926354|PMID:17576681|PMID:18054510|PMID:185223805|PMID:18523805|PMID:18676165|PMID:18836889|PMID:18951053|PMID:19800078|PMID:20376488|PMID:20389114|PMID:21170680|PMID:21325261|PMID:21483766|PMID:21500142|PMID:22241096|PMID:22424739|PMID:23155713|PMID:23798014|PMID:24033266|PMID:24485985|PMID:25741868|PMID:26055667|PMID:26274329|PMID:27051597|PMID:27466294|PMID:27938594|PMID:28018444|PMID:2808706|PMID:28263315|PMID:28374236|PMID:28454995|PMID:28492532|PMID:28516284|PMID:28532786|PMID:29519241|PMID:29678161|PMID:30035407|PMID:30612563|PMID:31813752|PMID:32710939|PMID:32778825|PMID:32793418|PMID:33391346|PMID:9499414|PMID:9536098|PMID:9582344 12074954 ACADS acyl-CoA dehydrogenase short chain gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:732202 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:12736383|PMID:16546179|PMID:18523805|PMID:18676165|PMID:22241096|PMID:23798014|PMID:25741868|PMID:28492532|PMID:32793418|PMID:9499414 12074954 ACADS acyl-CoA dehydrogenase short chain gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:732202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:18523805|PMID:25741868|PMID:28492532 12074954 ACADS acyl-CoA dehydrogenase short chain gene DOID:6000 congestive heart failure ISO RGD:732202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30827304 12074954 ACADS acyl-CoA dehydrogenase short chain gene DOID:630 genetic disease ISO RGD:732202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12736383|PMID:16546179|PMID:1692038|PMID:18054510|PMID:18523805|PMID:18676165|PMID:21170680|PMID:21483766|PMID:22241096|PMID:22424739|PMID:23798014|PMID:24033266|PMID:24485985|PMID:25741868|PMID:27051597|PMID:2808706|PMID:28492532|PMID:32793418|PMID:9499414 12074954 ACADS acyl-CoA dehydrogenase short chain gene DOID:9352 type 2 diabetes mellitus ISO RGD:732202 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:18523805|PMID:25741868|PMID:28492532 12074966 SYNJ1 synaptojanin 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:69491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12074966 SYNJ1 synaptojanin 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:69491 D RGD:7240710 20180130 OMIM 12074966 SYNJ1 synaptojanin 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:69491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:11413010|PMID:16199547|PMID:17576681|PMID:23804563|PMID:23804577|PMID:24609975|PMID:24816432|PMID:25316601|PMID:25741868|PMID:26046367|PMID:26467025|PMID:27393345|PMID:27435091|PMID:27496670|PMID:27869329|PMID:28135719|PMID:28421333|PMID:28492532|PMID:29163333|PMID:32707456|PMID:9536098 12074966 SYNJ1 synaptojanin 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:69491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12074966 SYNJ1 synaptojanin 1 gene DOID:0080464 developmental and epileptic encephalopathy 53 ISO RGD:69491 D RGD:7240710 20190315 OMIM 12074966 SYNJ1 synaptojanin 1 gene DOID:0080464 developmental and epileptic encephalopathy 53 ISO RGD:69491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 53 PMID:25741868|PMID:26467025|PMID:27435091|PMID:28492532|PMID:32214227 12074966 SYNJ1 synaptojanin 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:69491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868|PMID:28492532 12074966 SYNJ1 synaptojanin 1 gene DOID:14330 Parkinson's disease ISO RGD:69491 D RGD:9068941 20200609 RGD PMID:25639775|REF_RGD_ID:10450521 12074966 SYNJ1 synaptojanin 1 gene DOID:630 genetic disease ISO RGD:69491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11413010|PMID:25741868|PMID:26467025|PMID:27435091|PMID:28421333|PMID:28492532 12074966 SYNJ1 synaptojanin 1 gene DOID:9005698 ZTTK Syndrome ISO RGD:69491 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 12075024 LOC478743 histone H2B type 1-C/E/F/G/I gene DOID:630 genetic disease ISO RGD:1317658 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075025 ESRRG estrogen related receptor gamma gene DOID:0050439 Usher syndrome ISO RGD:1349366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 12075025 ESRRG estrogen related receptor gamma gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1349366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12075025 ESRRG estrogen related receptor gamma gene DOID:1540 parathyroid carcinoma ISO RGD:1349366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12075025 ESRRG estrogen related receptor gamma gene DOID:5426 primary ovarian insufficiency ISO RGD:1349366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12075025 ESRRG estrogen related receptor gamma gene DOID:630 genetic disease ISO RGD:1349366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075025 ESRRG estrogen related receptor gamma gene DOID:9002231 Fetal Growth Retardation ISO RGD:1349366 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35220427 12075025 ESRRG estrogen related receptor gamma gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12075072 NIT1 nitrilase 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1349751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12075072 NIT1 nitrilase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1349751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12075072 NIT1 nitrilase 1 gene DOID:630 genetic disease ISO RGD:1349751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075072 NIT1 nitrilase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12075087 PYCR3 pyrroline-5-carboxylate reductase 3 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1319273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12075087 PYCR3 pyrroline-5-carboxylate reductase 3 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1319273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12075087 PYCR3 pyrroline-5-carboxylate reductase 3 gene DOID:10283 prostate cancer ISO RGD:1319273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12075087 PYCR3 pyrroline-5-carboxylate reductase 3 gene DOID:4621 holoprosencephaly ISO RGD:1319273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12075087 PYCR3 pyrroline-5-carboxylate reductase 3 gene DOID:630 genetic disease ISO RGD:1319273 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075096 BNIPL BCL2 interacting protein like gene DOID:0111940 immunodeficiency 42 ISO RGD:1319839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12075096 BNIPL BCL2 interacting protein like gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1319839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12075096 BNIPL BCL2 interacting protein like gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1319839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12075096 BNIPL BCL2 interacting protein like gene DOID:1540 parathyroid carcinoma ISO RGD:1319839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12075096 BNIPL BCL2 interacting protein like gene DOID:5812 MHC class II deficiency ISO RGD:1319839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12075096 BNIPL BCL2 interacting protein like gene DOID:630 genetic disease ISO RGD:1319839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075096 BNIPL BCL2 interacting protein like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12075110 CARNS1 carnosine synthase 1 gene DOID:1059 intellectual disability ISO RGD:2301770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12075110 CARNS1 carnosine synthase 1 gene DOID:630 genetic disease ISO RGD:2301770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075110 CARNS1 carnosine synthase 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:2301770 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12075110 CARNS1 carnosine synthase 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:2301770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12075125 GNG3 G protein subunit gamma 3 gene DOID:0050788 proximal symphalangism ISO RGD:1350428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger 12075125 GNG3 G protein subunit gamma 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12075125 GNG3 G protein subunit gamma 3 gene DOID:0111136 congenital generalized lipodystrophy type 2 ISO RGD:1350428 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2 PMID:25741868 12075125 GNG3 G protein subunit gamma 3 gene DOID:1059 intellectual disability ISO RGD:1350428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12075125 GNG3 G protein subunit gamma 3 gene DOID:3459 breast carcinoma ISO RGD:1350428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast carcinoma 12075125 GNG3 G protein subunit gamma 3 gene DOID:630 genetic disease ISO RGD:1350428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075125 GNG3 G protein subunit gamma 3 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:1350428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Reduced delayed hypersensitivity 12075125 GNG3 G protein subunit gamma 3 gene DOID:9351 diabetes mellitus ISO RGD:1350428 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:26467025 12075132 TAAR5 trace amine associated receptor 5 gene DOID:630 genetic disease ISO RGD:1603706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075134 DENND2B DENN domain containing 2B gene DOID:630 genetic disease ISO RGD:1319089 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075173 PLA2G3 phospholipase A2 group III gene DOID:630 genetic disease ISO RGD:1313284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075184 FAS Fas cell surface death receptor gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:15148335|REF_RGD_ID:11049166 12075184 FAS Fas cell surface death receptor gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood mononuclear cell: PMID:7513372|REF_RGD_ID:11049453 12075184 FAS Fas cell surface death receptor gene DOID:0050523 adult T-cell leukemia/lymphoma susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: -670 G>A(human) PMID:17962369|REF_RGD_ID:11049147 12075184 FAS Fas cell surface death receptor gene DOID:0050697 chorioamnionitis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:villous trophoblast PMID:12700199|REF_RGD_ID:12904022 12075184 FAS Fas cell surface death receptor gene DOID:0050700 cardiomyopathy ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10716473|PMID:10920071|PMID:17943461 12075184 FAS Fas cell surface death receptor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 12075184 FAS Fas cell surface death receptor gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346266 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:bone marrow: PMID:9557605|REF_RGD_ID:11049447 12075184 FAS Fas cell surface death receptor gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood mononuclear cell: PMID:15686130|REF_RGD_ID:11049448 12075184 FAS Fas cell surface death receptor gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 12075184 FAS Fas cell surface death receptor gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:619831 D RGD:9068941 20200609 RGD associated with gastric adenocarcinoma PMID:29588340|REF_RGD_ID:13792594 12075184 FAS Fas cell surface death receptor gene DOID:0060108 brain glioma treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29324390|REF_RGD_ID:13792598 12075184 FAS Fas cell surface death receptor gene DOID:0060704 lymphoproliferative syndrome ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:15148335|REF_RGD_ID:11049166 12075184 FAS Fas cell surface death receptor gene DOID:0060704 lymphoproliferative syndrome susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:deletions PMID:7539157|REF_RGD_ID:1600310 12075184 FAS Fas cell surface death receptor gene DOID:0080162 lupus nephritis ISO RGD:1346266 D RGD:9068941 20210813 CTD CTD Direct Evidence: marker/mechanism PMID:33632240 12075184 FAS Fas cell surface death receptor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23127599 12075184 FAS Fas cell surface death receptor gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:insertion, deletions:cds:multiple (human) PMID:12466128|REF_RGD_ID:8662407 12075184 FAS Fas cell surface death receptor gene DOID:0081267 graft-versus-host disease ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:9404931|REF_RGD_ID:11049160 12075184 FAS Fas cell surface death receptor gene DOID:10223 dermatomyositis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9182923|REF_RGD_ID:8662437 12075184 FAS Fas cell surface death receptor gene DOID:10283 prostate cancer disease_progression ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:17667965|REF_RGD_ID:2290050 12075184 FAS Fas cell surface death receptor gene DOID:10283 prostate cancer severity ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:18237448|REF_RGD_ID:2289639 12075184 FAS Fas cell surface death receptor gene DOID:10591 pre-eclampsia susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-670A>G (human) PMID:15695771|REF_RGD_ID:12903973 12075184 FAS Fas cell surface death receptor gene DOID:10591 pre-eclampsia susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-670A>G(rs1800682)(human) PMID:30066360|REF_RGD_ID:14700669 12075184 FAS Fas cell surface death receptor gene DOID:10652 Alzheimer's disease ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-670G>A (human) PMID:11129341|REF_RGD_ID:1358615 12075184 FAS Fas cell surface death receptor gene DOID:10652 Alzheimer's disease ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:brain, plaque (human) PMID:12742739|REF_RGD_ID:8663481 12075184 FAS Fas cell surface death receptor gene DOID:10808 gastric ulcer treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29339218|REF_RGD_ID:13792597 12075184 FAS Fas cell surface death receptor gene DOID:10952 nephritis ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26590112 12075184 FAS Fas cell surface death receptor gene DOID:11054 urinary bladder cancer ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9070496 12075184 FAS Fas cell surface death receptor gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:-1377G>A,-670A>G PMID:16538171|REF_RGD_ID:2290063 12075184 FAS Fas cell surface death receptor gene DOID:11382 corneal neovascularization treatment ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:12506060|REF_RGD_ID:8662416 12075184 FAS Fas cell surface death receptor gene DOID:11383 cryptorchidism ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29606031|REF_RGD_ID:13792609 12075184 FAS Fas cell surface death receptor gene DOID:11446 sciatic neuropathy ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29970988|REF_RGD_ID:13792563 12075184 FAS Fas cell surface death receptor gene DOID:11713 diabetic angiopathy ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:15803113|REF_RGD_ID:2315753 12075184 FAS Fas cell surface death receptor gene DOID:11832 visual epilepsy ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus (rat) PMID:11435933|REF_RGD_ID:8662911 12075184 FAS Fas cell surface death receptor gene DOID:12236 primary biliary cholangitis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:lymphocyte: PMID:26429926|REF_RGD_ID:14700711 12075184 FAS Fas cell surface death receptor gene DOID:12336 male infertility ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:testis (rat) PMID:23441449|REF_RGD_ID:8663476 12075184 FAS Fas cell surface death receptor gene DOID:12337 varicocele ISO RGD:619831 D RGD:9068941 20200609 RGD protein:decreased expression:Leydig cell, spermatid PMID:16616089|REF_RGD_ID:1600348 12075184 FAS Fas cell surface death receptor gene DOID:12351 alcoholic hepatitis treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 12075184 FAS Fas cell surface death receptor gene DOID:12361 Graves' disease ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:thyroid gland, thyrocyte (human) PMID:11422195|REF_RGD_ID:8662820 12075184 FAS Fas cell surface death receptor gene DOID:12449 aplastic anemia ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:11876982|REF_RGD_ID:11049449 12075184 FAS Fas cell surface death receptor gene DOID:12449 aplastic anemia ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:CD34+ bone marrow cell PMID:7577642|REF_RGD_ID:11049159 12075184 FAS Fas cell surface death receptor gene DOID:12858 Huntington's disease ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:decreased expression:putamen,caudate: PMID:11054182|REF_RGD_ID:12903948 12075184 FAS Fas cell surface death receptor gene DOID:12894 Sjogren's syndrome ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9890678|REF_RGD_ID:8662410 12075184 FAS Fas cell surface death receptor gene DOID:12894 Sjogren's syndrome ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:9870874|REF_RGD_ID:8662451 12075184 FAS Fas cell surface death receptor gene DOID:12894 Sjogren's syndrome ISO RGD:1552455 D RGD:9068941 20200609 RGD protein:decreased expression:lacrimal gland, lymphocyte (mouse) PMID:11157873|REF_RGD_ID:8662436 12075184 FAS Fas cell surface death receptor gene DOID:12894 Sjogren's syndrome ISO RGD:1552455 D RGD:9068941 20220825 MouseDO OMIM:270150 12075184 FAS Fas cell surface death receptor gene DOID:12930 dilated cardiomyopathy ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17943461 12075184 FAS Fas cell surface death receptor gene DOID:12930 dilated cardiomyopathy ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:cardiocyte PMID:16761189|REF_RGD_ID:1600334 12075184 FAS Fas cell surface death receptor gene DOID:13099 Moyamoya disease ISO RGD:1346266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Moyamoya disease 12075184 FAS Fas cell surface death receptor gene DOID:13133 HELLP syndrome ISO RGD:619831 D RGD:9068941 20200609 RGD protein,mRNA:altered expression:placenta, liver: PMID:28501275|REF_RGD_ID:14700673 12075184 FAS Fas cell surface death receptor gene DOID:13133 HELLP syndrome susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-670A>G(rs1800682)(human) PMID:30066360|REF_RGD_ID:14700669 12075184 FAS Fas cell surface death receptor gene DOID:13241 Behcet's disease severity ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9836498|REF_RGD_ID:8662438 12075184 FAS Fas cell surface death receptor gene DOID:13767 clonorchiasis ISO RGD:1346266 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:18427836|REF_RGD_ID:2315733 12075184 FAS Fas cell surface death receptor gene DOID:13767 clonorchiasis ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:18427836|REF_RGD_ID:2315733 12075184 FAS Fas cell surface death receptor gene DOID:14004 thoracic aortic aneurysm ISO RGD:1346266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 12075184 FAS Fas cell surface death receptor gene DOID:14067 Plasmodium falciparum malaria ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625619 12075184 FAS Fas cell surface death receptor gene DOID:14221 abdominal obesity-metabolic syndrome 1 ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:30172001|REF_RGD_ID:13792561 12075184 FAS Fas cell surface death receptor gene DOID:14330 Parkinson's disease ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:decreased expression:neurones of the substantia nigra pars: PMID:11054182|REF_RGD_ID:12903948 12075184 FAS Fas cell surface death receptor gene DOID:1485 cystic fibrosis severity ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:18685642|REF_RGD_ID:12903971 12075184 FAS Fas cell surface death receptor gene DOID:1577 limited scleroderma ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:17102953|REF_RGD_ID:12903974 12075184 FAS Fas cell surface death receptor gene DOID:1612 breast cancer susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-1377G>A PMID:17183065|REF_RGD_ID:2290054 12075184 FAS Fas cell surface death receptor gene DOID:1686 glaucoma ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:optic nerve head, axon (human) PMID:19043361|REF_RGD_ID:8662440 12075184 FAS Fas cell surface death receptor gene DOID:1749 squamous cell carcinoma ISO RGD:1346266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC PMID:10620127 12075184 FAS Fas cell surface death receptor gene DOID:1909 melanoma susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:-1377A>G,-670A>G(human) PMID:16538172|REF_RGD_ID:12903985 12075184 FAS Fas cell surface death receptor gene DOID:1936 atherosclerosis treatment ISO RGD:619831 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:29213335|REF_RGD_ID:13792600 12075184 FAS Fas cell surface death receptor gene DOID:2043 hepatitis B ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:12526294|REF_RGD_ID:14700675 12075184 FAS Fas cell surface death receptor gene DOID:2048 autoimmune hepatitis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:lymphocyte: PMID:26429926|REF_RGD_ID:14700711 12075184 FAS Fas cell surface death receptor gene DOID:2048 autoimmune hepatitis treatment ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:28551553|REF_RGD_ID:14700710 12075184 FAS Fas cell surface death receptor gene DOID:224 transient cerebral ischemia ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:10972965|REF_RGD_ID:8662928 12075184 FAS Fas cell surface death receptor gene DOID:224 transient cerebral ischemia ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:18410517|REF_RGD_ID:2311437 12075184 FAS Fas cell surface death receptor gene DOID:224 transient cerebral ischemia treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:18981705|REF_RGD_ID:8686422 12075184 FAS Fas cell surface death receptor gene DOID:224 transient cerebral ischemia treatment ISO RGD:619831 D RGD:9068941 20220728 RGD protein:increased expression:brain (rat) PMID:30301943|REF_RGD_ID:153297779 12075184 FAS Fas cell surface death receptor gene DOID:2316 brain ischemia ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:16796407|REF_RGD_ID:1600333 12075184 FAS Fas cell surface death receptor gene DOID:2377 multiple sclerosis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:white matter of brain: PMID:8879222|REF_RGD_ID:12903947 12075184 FAS Fas cell surface death receptor gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-670A>G (human) PMID:12098516|REF_RGD_ID:12903986 12075184 FAS Fas cell surface death receptor gene DOID:2378 relapsing-remitting multiple sclerosis susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:735T>C(human) PMID:15218339|REF_RGD_ID:12903953 12075184 FAS Fas cell surface death receptor gene DOID:2394 ovarian cancer disease_progression ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:blood, peritoneal fluid, T cell PMID:17565840|REF_RGD_ID:2290084 12075184 FAS Fas cell surface death receptor gene DOID:2475 chronic conjunctivitis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:conjunctival epithelial cell (human) PMID:9990333|REF_RGD_ID:8662412 12075184 FAS Fas cell surface death receptor gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:12470426|REF_RGD_ID:2290077 12075184 FAS Fas cell surface death receptor gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:decreased expression PMID:16091761|REF_RGD_ID:2290075 12075184 FAS Fas cell surface death receptor gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:16541433|REF_RGD_ID:2290058 12075184 FAS Fas cell surface death receptor gene DOID:2841 asthma ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA:increased expression:eosinophil PMID:16337971|REF_RGD_ID:1600350 12075184 FAS Fas cell surface death receptor gene DOID:2921 glomerulonephritis ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21880982 12075184 FAS Fas cell surface death receptor gene DOID:2921 glomerulonephritis treatment ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:9466307|REF_RGD_ID:8686428 12075184 FAS Fas cell surface death receptor gene DOID:2986 IgA glomerulonephritis treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29844269|REF_RGD_ID:13792576 12075184 FAS Fas cell surface death receptor gene DOID:3021 acute kidney failure ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:renal tubule (rat) PMID:21374789|REF_RGD_ID:8663469 12075184 FAS Fas cell surface death receptor gene DOID:3070 high grade glioma severity ISO RGD:1552455 D RGD:9068941 20200609 RGD mouse gene in a rat model PMID:11440439|REF_RGD_ID:8663460 12075184 FAS Fas cell surface death receptor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29208459|REF_RGD_ID:13792601 12075184 FAS Fas cell surface death receptor gene DOID:341 peripheral vascular disease ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma PMID:17075777|REF_RGD_ID:2315707 12075184 FAS Fas cell surface death receptor gene DOID:3429 inclusion body myositis ISO RGD:1346266 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:muscle PMID:9450780|REF_RGD_ID:12903959 12075184 FAS Fas cell surface death receptor gene DOID:3459 breast carcinoma ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:15792116|REF_RGD_ID:2290130 12075184 FAS Fas cell surface death receptor gene DOID:3492 mixed connective tissue disease ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9182923|REF_RGD_ID:8662437 12075184 FAS Fas cell surface death receptor gene DOID:3910 lung adenocarcinoma ISO RGD:1346266 D RGD:9068941 20220310 RGD mRNA:decreased expression:lung (human) PMID:29254206|REF_RGD_ID:151665107 12075184 FAS Fas cell surface death receptor gene DOID:409 liver disease treatment ISO RGD:619831 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:29852394|REF_RGD_ID:13792574 12075184 FAS Fas cell surface death receptor gene DOID:417 autoimmune disease ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22536412|PMID:2545777|PMID:26590112 12075184 FAS Fas cell surface death receptor gene DOID:437 myasthenia gravis ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15169653 12075184 FAS Fas cell surface death receptor gene DOID:437 myasthenia gravis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, T lymphocyte (human) PMID:23043710|REF_RGD_ID:8662430 12075184 FAS Fas cell surface death receptor gene DOID:4440 seminoma ISO RGD:1346266 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:testis PMID:17916181|REF_RGD_ID:2290049 12075184 FAS Fas cell surface death receptor gene DOID:4448 macular degeneration severity ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:choroid, epithelioid cell (human) PMID:9488273|REF_RGD_ID:8662418 12075184 FAS Fas cell surface death receptor gene DOID:4450 renal cell carcinoma ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:17031406|REF_RGD_ID:2290099 12075184 FAS Fas cell surface death receptor gene DOID:4450 renal cell carcinoma ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:missense mutations:exon PMID:12460460|REF_RGD_ID:2290131 12075184 FAS Fas cell surface death receptor gene DOID:4450 renal cell carcinoma ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:10654915|REF_RGD_ID:2290133 12075184 FAS Fas cell surface death receptor gene DOID:4450 renal cell carcinoma ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:11435457|REF_RGD_ID:2290132 12075184 FAS Fas cell surface death receptor gene DOID:4692 endophthalmitis ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:retinal ganglion cell, bipolar cell of retina, photoreceptor (rat) PMID:19039600|REF_RGD_ID:8662445 12075184 FAS Fas cell surface death receptor gene DOID:4752 multiple system atrophy ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:precentral gyrus (human) PMID:23372841|REF_RGD_ID:8663486 12075184 FAS Fas cell surface death receptor gene DOID:4914 esophagus adenocarcinoma ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with Barrett Esophagus;protein:increased expression:esophageal mucosa (human) PMID:10340890|REF_RGD_ID:8662425 12075184 FAS Fas cell surface death receptor gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:11003620|REF_RGD_ID:14700701 12075184 FAS Fas cell surface death receptor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:10200468|REF_RGD_ID:11049451 12075184 FAS Fas cell surface death receptor gene DOID:5327 retinal detachment ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina PMID:15557468|REF_RGD_ID:1600357 12075184 FAS Fas cell surface death receptor gene DOID:5327 retinal detachment treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:17923548|REF_RGD_ID:8662409 12075184 FAS Fas cell surface death receptor gene DOID:576 proteinuria ISO RGD:1346266 D RGD:9068941 20210813 CTD CTD Direct Evidence: marker/mechanism PMID:26590112|PMID:33632240 12075184 FAS Fas cell surface death receptor gene DOID:6000 congestive heart failure ISO RGD:1346266 D RGD:9068941 20200609 RGD mRNA:splice variant:heart left ventricle (human) PMID:9367848|REF_RGD_ID:8686420 12075184 FAS Fas cell surface death receptor gene DOID:6000 congestive heart failure treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29746994|REF_RGD_ID:13792577 12075184 FAS Fas cell surface death receptor gene DOID:612 primary immunodeficiency disease ISO RGD:1346266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:18948840|PMID:21490157|PMID:25741868|PMID:27789675|PMID:28492532|PMID:32499645 12075184 FAS Fas cell surface death receptor gene DOID:630 genetic disease ISO RGD:1346266 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21490157|PMID:25741868|PMID:28492532 12075184 FAS Fas cell surface death receptor gene DOID:6376 hypersplenism ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15877736 12075184 FAS Fas cell surface death receptor gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1346266 D RGD:7240710 20180130 OMIM 12075184 FAS Fas cell surface death receptor gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1346266 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10090885|PMID:10515860|PMID:10875918|PMID:1090885|PMID:11830507|PMID:12657942|PMID:15459302|PMID:15459303|PMID:16199547|PMID:16537120|PMID:17576681|PMID:17999750|PMID:18223337|PMID:18948840|PMID:20301287|PMID:20682655|PMID:20935634|PMID:21183795|PMID:2149015|PMID:21490157|PMID:21625619|PMID:22237435|PMID:22752343|PMID:22983577|PMID:23407489|PMID:24033266|PMID:24728327|PMID:25502423|PMID:25741868|PMID:26563159|PMID:27789675|PMID:28492532|PMID:28668589|PMID:32499645|PMID:32888943|PMID:33816397|PMID:34573280|PMID:4852259|PMID:7540117|PMID:9028321|PMID:9028957|PMID:9533447|PMID:9536098|PMID:9821419|PMID:9927496 12075184 FAS Fas cell surface death receptor gene DOID:684 hepatocellular carcinoma ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:11274632|REF_RGD_ID:14700677 12075184 FAS Fas cell surface death receptor gene DOID:684 hepatocellular carcinoma ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29634416|REF_RGD_ID:13792608 12075184 FAS Fas cell surface death receptor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:30737368|REF_RGD_ID:14700700 12075184 FAS Fas cell surface death receptor gene DOID:687 hepatoblastoma ISO RGD:1346266 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 12075184 FAS Fas cell surface death receptor gene DOID:7148 rheumatoid arthritis ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:20875116|REF_RGD_ID:12903969 12075184 FAS Fas cell surface death receptor gene DOID:7148 rheumatoid arthritis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:12148596|REF_RGD_ID:8662455 12075184 FAS Fas cell surface death receptor gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-670A>G (human) PMID:23053964|REF_RGD_ID:8662433 12075184 FAS Fas cell surface death receptor gene DOID:74 hematopoietic system disease ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15877736 12075184 FAS Fas cell surface death receptor gene DOID:768 retinoblastoma severity ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:decreased expression:tumor (human) PMID:14533029|REF_RGD_ID:8662811 12075184 FAS Fas cell surface death receptor gene DOID:83 cataract ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with Diabetic Retinopathy; mRNA,protein:increased expression:epithelial cell PMID:12658358|REF_RGD_ID:2315757 12075184 FAS Fas cell surface death receptor gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:promoter: -670 G>A, -1377 G>A (human) PMID:26563376|REF_RGD_ID:11049146 12075184 FAS Fas cell surface death receptor gene DOID:8568 infectious mononucleosis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:monocyte, neutrophil, serum: PMID:11185989|REF_RGD_ID:11049152 12075184 FAS Fas cell surface death receptor gene DOID:8577 ulcerative colitis treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:30122878|REF_RGD_ID:13792562 12075184 FAS Fas cell surface death receptor gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:10776692|REF_RGD_ID:11049162 12075184 FAS Fas cell surface death receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:17703359|PMID:29738767|REF_RGD_ID:13792580|REF_RGD_ID:2290176 12075184 FAS Fas cell surface death receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:cervical spinal cord PMID:17518537|REF_RGD_ID:2290177 12075184 FAS Fas cell surface death receptor gene DOID:9000081 Lymphatic Metastasis susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms;DNA:polymorphism:promoter:-1377G>A PMID:18068525|REF_RGD_ID:2298509 12075184 FAS Fas cell surface death receptor gene DOID:9000099 Experimental Colitis treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:22368862|REF_RGD_ID:10054108 12075184 FAS Fas cell surface death receptor gene DOID:9000117 Esophageal Neoplasms ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:decreased expression:esophageal mucosa: PMID:9605741|REF_RGD_ID:11049151 12075184 FAS Fas cell surface death receptor gene DOID:9000855 Experimental Radiation Injuries ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA:increased expression:testis (rat) PMID:9927315|REF_RGD_ID:8662886 12075184 FAS Fas cell surface death receptor gene DOID:9000918 Disease Progression ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11594583 12075184 FAS Fas cell surface death receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:decreased expression:breast PMID:17352235|REF_RGD_ID:2290053 12075184 FAS Fas cell surface death receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:1552455 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms;protein:decreased expression:lung PMID:17918178|REF_RGD_ID:2290048 12075184 FAS Fas cell surface death receptor gene DOID:9000996 Chest Trauma ISO RGD:619831 D RGD:9068941 20200609 RGD protein:decreased expression:alveolar macrophage (rat) PMID:21330946|REF_RGD_ID:8663480 12075184 FAS Fas cell surface death receptor gene DOID:9000998 Brain Injuries ISO RGD:1552455 D RGD:9068941 20200609 RGD associated with Hyperoxia PMID:19107989|REF_RGD_ID:8662854 12075184 FAS Fas cell surface death receptor gene DOID:9000998 Brain Injuries ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:16078565|REF_RGD_ID:1600354 12075184 FAS Fas cell surface death receptor gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:lymphocyte: PMID:26429926|REF_RGD_ID:14700711 12075184 FAS Fas cell surface death receptor gene DOID:9001472 Nasal Polyps ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:decreased expression:nasal polyp (human) PMID:15283292|REF_RGD_ID:8662435 12075184 FAS Fas cell surface death receptor gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1346266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:28492532 12075184 FAS Fas cell surface death receptor gene DOID:9001553 Spinal Cord Compression ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord: PMID:21490053|REF_RGD_ID:12904017 12075184 FAS Fas cell surface death receptor gene DOID:9001553 Spinal Cord Compression ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:16202410|REF_RGD_ID:8663485 12075184 FAS Fas cell surface death receptor gene DOID:9001553 Spinal Cord Compression treatment ISO RGD:1346266 D RGD:9068941 20200609 RGD human protein in a rat model PMID:16689665|REF_RGD_ID:1582444 12075184 FAS Fas cell surface death receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30737368 12075184 FAS Fas cell surface death receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:17105443|REF_RGD_ID:2290284 12075184 FAS Fas cell surface death receptor gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30737368 12075184 FAS Fas cell surface death receptor gene DOID:9001661 Taste Disorders ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22536412 12075184 FAS Fas cell surface death receptor gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11809923 12075184 FAS Fas cell surface death receptor gene DOID:9002159 Liver Reperfusion Injury ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:17235585|REF_RGD_ID:2290283 12075184 FAS Fas cell surface death receptor gene DOID:9002159 Liver Reperfusion Injury ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:16222447|REF_RGD_ID:1600351 12075184 FAS Fas cell surface death receptor gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:18561025|REF_RGD_ID:14700680 12075184 FAS Fas cell surface death receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:kidney PMID:17851466|REF_RGD_ID:2315705 12075184 FAS Fas cell surface death receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:1346266 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:18287563|REF_RGD_ID:2312739 12075184 FAS Fas cell surface death receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:619831 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:renal distal tubule (rat) PMID:12861046|REF_RGD_ID:8686421 12075184 FAS Fas cell surface death receptor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:12901972|REF_RGD_ID:11049461 12075184 FAS Fas cell surface death receptor gene DOID:9002231 Fetal Growth Retardation ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with protein:increased expression:serum: PMID:16169656|REF_RGD_ID:12904025 12075184 FAS Fas cell surface death receptor gene DOID:9002231 Fetal Growth Retardation susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with Pre-Eclampsia;DNA:SNP:promoter:-670A>G (human) PMID:15695771|REF_RGD_ID:12903973 12075184 FAS Fas cell surface death receptor gene DOID:9002283 Experimental Allergic Asthma treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29713367|REF_RGD_ID:13792581 12075184 FAS Fas cell surface death receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:18265979|REF_RGD_ID:2290046 12075184 FAS Fas cell surface death receptor gene DOID:9002371 Cardiotoxicity ISO RGD:1346266 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34713381 12075184 FAS Fas cell surface death receptor gene DOID:9002395 Hypothermia ISO RGD:619831 D RGD:9068941 20200609 RGD associated with Ischemic Attack, Transient; protein:decreased expression:brain (rat) PMID:18410517|REF_RGD_ID:2311437 12075184 FAS Fas cell surface death receptor gene DOID:9002720 Splenomegaly ISO RGD:1346266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868|PMID:28492532 12075184 FAS Fas cell surface death receptor gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:1552455 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:17102953|REF_RGD_ID:12903974 12075184 FAS Fas cell surface death receptor gene DOID:9002928 Colonic Neoplasms resistance ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression PMID:15796164|REF_RGD_ID:1600355 12075184 FAS Fas cell surface death receptor gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:21843499|REF_RGD_ID:9587791 12075184 FAS Fas cell surface death receptor gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:12148596|REF_RGD_ID:8662455 12075184 FAS Fas cell surface death receptor gene DOID:9003867 Lymphomatoid Papulosis ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11594583 12075184 FAS Fas cell surface death receptor gene DOID:9004009 Reperfusion Injury treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29568770|REF_RGD_ID:13792595 12075184 FAS Fas cell surface death receptor gene DOID:9004038 Kashin-Beck Disease ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:articular cartilage, chondrocyte PMID:16511931|REF_RGD_ID:10054094 12075184 FAS Fas cell surface death receptor gene DOID:9004484 Sepsis ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:17899301|REF_RGD_ID:2290175 12075184 FAS Fas cell surface death receptor gene DOID:9004590 Acute Liver Failure ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12828076 12075184 FAS Fas cell surface death receptor gene DOID:9004590 Acute Liver Failure ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:28060213|REF_RGD_ID:14700678 12075184 FAS Fas cell surface death receptor gene DOID:9004590 Acute Liver Failure ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:hepatocyte: PMID:10950056|REF_RGD_ID:14700697 12075184 FAS Fas cell surface death receptor gene DOID:9004590 Acute Liver Failure ISO RGD:1552455 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:25601293|REF_RGD_ID:14700667 12075184 FAS Fas cell surface death receptor gene DOID:9004590 Acute Liver Failure treatment ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:25601293|REF_RGD_ID:14700667 12075184 FAS Fas cell surface death receptor gene DOID:9004610 Acute Lung Injury ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11778176 12075184 FAS Fas cell surface death receptor gene DOID:9005144 Autoimmune Lymphoproliferative Syndrome, Type IA ISO RGD:1346266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1a PMID:10090885|PMID:10200300|PMID:10515860|PMID:10709732|PMID:15459302|PMID:15459303|PMID:18223337|PMID:18948840|PMID:20935634|PMID:21490157|PMID:22237435|PMID:23407489|PMID:28492532|PMID:4165068|PMID:4852259|PMID:7539157|PMID:7540117|PMID:8929361|PMID:9028321|PMID:9533447|PMID:9821419|PMID:9927496 12075184 FAS Fas cell surface death receptor gene DOID:9005172 Lung Neoplasms ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 12075184 FAS Fas cell surface death receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:18094967|REF_RGD_ID:2290047 12075184 FAS Fas cell surface death receptor gene DOID:9005627 Metabolic Brain Diseases ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, neuron; associated with diabetes mellitus, insulin-dependent PMID:15777748|REF_RGD_ID:1600356 12075184 FAS Fas cell surface death receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12075184 FAS Fas cell surface death receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:heart ventricle PMID:19820199|REF_RGD_ID:2314021 12075184 FAS Fas cell surface death receptor gene DOID:9005643 Experimental Diabetes Mellitus onset ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:20004692|REF_RGD_ID:2315698 12075184 FAS Fas cell surface death receptor gene DOID:9005647 Experimental Autoimmune Uveitis susceptibility ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:11067900|REF_RGD_ID:8662852 12075184 FAS Fas cell surface death receptor gene DOID:9005749 Necrosis ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15664267 12075184 FAS Fas cell surface death receptor gene DOID:9005930 Endotoxemia ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spleen (rat) PMID:20428798|REF_RGD_ID:8662930 12075184 FAS Fas cell surface death receptor gene DOID:9006205 Animal Disease Models ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22536412|PMID:26590112 12075184 FAS Fas cell surface death receptor gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29285062|REF_RGD_ID:13792599 12075184 FAS Fas cell surface death receptor gene DOID:9006411 Testicular Injury ISO RGD:1346266 D RGD:9068941 20200609 RGD mRNA:increased expression:testis (rat) PMID:9112408|REF_RGD_ID:8662900 12075184 FAS Fas cell surface death receptor gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus, renal interstitium, renal tubule PMID:16152783|REF_RGD_ID:1600352 12075184 FAS Fas cell surface death receptor gene DOID:9006890 Chronic Uveitis severity ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;protein:increased expression:peripheral blood, CD8-Positive T-Lymphocytes (human) PMID:8814751|REF_RGD_ID:8662442 12075184 FAS Fas cell surface death receptor gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:1346266 D RGD:9068941 20201218 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26541527|REF_RGD_ID:40902860 12075184 FAS Fas cell surface death receptor gene DOID:9007355 Hashimoto Disease severity ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, CD8-Positive T-Lymphocytes (human) PMID:15242568|REF_RGD_ID:8662824 12075184 FAS Fas cell surface death receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:16831245|REF_RGD_ID:8662853 12075184 FAS Fas cell surface death receptor gene DOID:9007480 Hyperoxia ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA:increased expression:thalamus, cerebral cortex (rat) PMID:19107989|REF_RGD_ID:8662854 12075184 FAS Fas cell surface death receptor gene DOID:9007480 Hyperoxia susceptibility ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:19107989|REF_RGD_ID:8662854 12075184 FAS Fas cell surface death receptor gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:1552455 D RGD:9068941 20200609 RGD protein:increased expression:Kupffer cell: PMID:15797225|REF_RGD_ID:14700708 12075184 FAS Fas cell surface death receptor gene DOID:9007558 Acute Experimental Pancreatitis severity ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:15797225|REF_RGD_ID:14700708 12075184 FAS Fas cell surface death receptor gene DOID:9007692 Insulin Resistance treatment ISO RGD:619831 D RGD:9068941 20200609 RGD associated with hypothalamic disease PMID:29522769|REF_RGD_ID:13792596 12075184 FAS Fas cell surface death receptor gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:21316771|REF_RGD_ID:8686424 12075184 FAS Fas cell surface death receptor gene DOID:9007900 Multisystemic Smooth Muscle Dysfunction Syndrome ISO RGD:1346266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome 12075184 FAS Fas cell surface death receptor gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA:increased expression:mandibular condyle, cartilage (rat) PMID:23934157|REF_RGD_ID:8663479 12075184 FAS Fas cell surface death receptor gene DOID:9008614 Cardiovascular Pregnancy Complications ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10716473 12075184 FAS Fas cell surface death receptor gene DOID:9008691 Liver Injury treatment ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:30737368|REF_RGD_ID:14700700 12075184 FAS Fas cell surface death receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:T lymphocyte: PMID:7531628|REF_RGD_ID:11049450 12075184 FAS Fas cell surface death receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9182923|REF_RGD_ID:8662437 12075184 FAS Fas cell surface death receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:1552455 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12075184 FAS Fas cell surface death receptor gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:snps:promoter:g.-1377G>A, g.-670A>G (human) PMID:23053964|REF_RGD_ID:8662433 12075184 FAS Fas cell surface death receptor gene DOID:9119 acute myeloid leukemia ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7579353 12075184 FAS Fas cell surface death receptor gene DOID:9119 acute myeloid leukemia ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:8870373|REF_RGD_ID:11049452 12075184 FAS Fas cell surface death receptor gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype:promoter:-1377 G>A, -670 G>A (human) PMID:12907599|REF_RGD_ID:11049150 12075184 FAS Fas cell surface death receptor gene DOID:9206 Barrett's esophagus severity ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:10821489|REF_RGD_ID:12903968 12075184 FAS Fas cell surface death receptor gene DOID:9282 ocular hypertension ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:retina, microglial cell PMID:17045251|REF_RGD_ID:1600312 12075184 FAS Fas cell surface death receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12075184 FAS Fas cell surface death receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:insulin-secreting cells PMID:19120316|REF_RGD_ID:2315742 12075184 FAS Fas cell surface death receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:9254659|REF_RGD_ID:2315754 12075184 FAS Fas cell surface death receptor gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:CD34+ bone marrow cell PMID:9711907|REF_RGD_ID:11049157 12075184 FAS Fas cell surface death receptor gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:10500800|REF_RGD_ID:11049148 12075184 FAS Fas cell surface death receptor gene DOID:9976 heroin dependence ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:14530904|REF_RGD_ID:8686423 12075198 SH3TC1 SH3 domain and tetratricopeptide repeats 1 gene DOID:630 genetic disease ISO RGD:1313741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075198 SH3TC1 SH3 domain and tetratricopeptide repeats 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 12075233 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:0050700 cardiomyopathy ISO RGD:730888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21037199 12075233 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:10603 glucose intolerance ISO RGD:730888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19934007 12075233 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:10603 glucose intolerance ISO RGD:730889 D RGD:9068941 20200609 RGD PMID:12511592|REF_RGD_ID:1302556 12075233 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:10779 septic myocarditis treatment ISO RGD:730889 D RGD:9068941 20201008 RGD PMID:27621180|REF_RGD_ID:39456138 12075233 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:14069 cerebral malaria ISO RGD:730889 D RGD:9068941 20201008 RGD mRNA:decreased expression:brain (mouse) PMID:29107705|REF_RGD_ID:39456137 12075233 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:630 genetic disease ISO RGD:730888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075233 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:730888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29753072 12075233 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9002189 High Myopia ISO RGD:730888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12075233 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9003936 Cardiomegaly ISO RGD:730888 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18812163 12075233 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9007096 Stroke ISO RGD:730888 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20847317 12075233 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9007692 Insulin Resistance ISO RGD:730888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19934007 12075233 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:730888 D RGD:9068941 20200609 RGD DNA:SNPs PMID:16567511|REF_RGD_ID:1625266 12075233 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:730888 D RGD:9068941 20200609 RGD DNA:SNPs PMID:16567511|REF_RGD_ID:1625266 12075246 CDH16 cadherin 16 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1323200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12075246 CDH16 cadherin 16 gene DOID:0110255 cataract 5 multiple types ISO RGD:1323200 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 12075246 CDH16 cadherin 16 gene DOID:1781 thyroid gland cancer ISO RGD:1323200 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:Thyroid PMID:22028439|REF_RGD_ID:13792552 12075246 CDH16 cadherin 16 gene DOID:630 genetic disease ISO RGD:1323200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075272 ARHGAP17 Rho GTPase activating protein 17 gene DOID:630 genetic disease ISO RGD:1343283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075272 ARHGAP17 Rho GTPase activating protein 17 gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:628767 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 12075296 LRRC7 leucine rich repeat containing 7 gene DOID:1059 intellectual disability ISO RGD:1349743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12075296 LRRC7 leucine rich repeat containing 7 gene DOID:630 genetic disease ISO RGD:1349743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075296 LRRC7 leucine rich repeat containing 7 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1349743 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 12075342 RBFA ribosome binding factor A gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1323615 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12075342 RBFA ribosome binding factor A gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1323615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 12075342 RBFA ribosome binding factor A gene DOID:630 genetic disease ISO RGD:1323615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075342 RBFA ribosome binding factor A gene DOID:6420 pulmonary valve stenosis ISO RGD:1323615 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12075342 RBFA ribosome binding factor A gene DOID:8445 intestinal volvulus ISO RGD:1323615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12075342 RBFA ribosome binding factor A gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1323615 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 12075342 RBFA ribosome binding factor A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12075342 RBFA ribosome binding factor A gene DOID:9008419 Volvulus Of Midgut ISO RGD:1323615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12075355 LOC607207 myosin regulatory light polypeptide 9 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1606574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12075355 LOC607207 myosin regulatory light polypeptide 9 gene DOID:0110880 holoprosencephaly 4 ISO RGD:1606574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 4 PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:22125506|PMID:28492532 12075355 LOC607207 myosin regulatory light polypeptide 9 gene DOID:1059 intellectual disability ISO RGD:1606574 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12075355 LOC607207 myosin regulatory light polypeptide 9 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1606574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12075355 LOC607207 myosin regulatory light polypeptide 9 gene DOID:630 genetic disease ISO RGD:1606574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075355 LOC607207 myosin regulatory light polypeptide 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12075355 LOC607207 myosin regulatory light polypeptide 9 gene DOID:9005523 Majeed Syndrome ISO RGD:1606574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Majeed syndrome PMID:28492532 12075366 CTDNEP1 CTD nuclear envelope phosphatase 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1320917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12075366 CTDNEP1 CTD nuclear envelope phosphatase 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1320917 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12075366 CTDNEP1 CTD nuclear envelope phosphatase 1 gene DOID:1059 intellectual disability ISO RGD:1320917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12075366 CTDNEP1 CTD nuclear envelope phosphatase 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1320917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12075366 CTDNEP1 CTD nuclear envelope phosphatase 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1320917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12075366 CTDNEP1 CTD nuclear envelope phosphatase 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1320917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12075366 CTDNEP1 CTD nuclear envelope phosphatase 1 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1320917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12075378 HSD17B1 hydroxysteroid 17-beta dehydrogenase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736216 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12075378 HSD17B1 hydroxysteroid 17-beta dehydrogenase 1 gene DOID:0111394 mucopolysaccharidosis type IIIB ISO RGD:736216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B PMID:28492532 12075378 HSD17B1 hydroxysteroid 17-beta dehydrogenase 1 gene DOID:289 endometriosis ISO RGD:736216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18815356 12075378 HSD17B1 hydroxysteroid 17-beta dehydrogenase 1 gene DOID:3008 invasive ductal carcinoma severity ISO RGD:736216 D RGD:9068941 20200609 RGD protein:decreased expression:ductal breast carcinoma (human) PMID:10682658|REF_RGD_ID:4890946 12075378 HSD17B1 hydroxysteroid 17-beta dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:736216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075378 HSD17B1 hydroxysteroid 17-beta dehydrogenase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17507624 12075378 HSD17B1 hydroxysteroid 17-beta dehydrogenase 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:736216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12075392 SH3D21 SH3 domain containing 21 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12075392 SH3D21 SH3 domain containing 21 gene DOID:630 genetic disease ISO RGD:1605948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075441 EXOSC2 exosome component 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1315266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12075441 EXOSC2 exosome component 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1315266 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12075441 EXOSC2 exosome component 2 gene DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies ISO RGD:1315266 D RGD:7240710 20190315 OMIM 12075441 EXOSC2 exosome component 2 gene DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies ISO RGD:1315266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | ClinVar Annotator: match by term: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies PMID:14647208|PMID:15060126|PMID:24447024|PMID:25741868|PMID:26843489|PMID:28492532|PMID:31628467|PMID:34162742 12075441 EXOSC2 exosome component 2 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1315266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 12075441 EXOSC2 exosome component 2 gene DOID:630 genetic disease ISO RGD:1315266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12075441 EXOSC2 exosome component 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1315266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12075441 EXOSC2 exosome component 2 gene DOID:9273 citrullinemia ISO RGD:1315266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:28492532 12075454 EHD4 EH domain containing 4 gene DOID:2717 Bloom syndrome ISO RGD:734140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12075454 EHD4 EH domain containing 4 gene DOID:630 genetic disease ISO RGD:734140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075454 EHD4 EH domain containing 4 gene DOID:9256 colorectal cancer ISO RGD:734140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12075465 SRGN serglycin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12075473 LOC610578 up-regulator of cell proliferation gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12075473 LOC610578 up-regulator of cell proliferation gene DOID:630 genetic disease ISO RGD:1604342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075475 ARGLU1 arginine and glutamate rich 1 gene DOID:630 genetic disease ISO RGD:1605984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075475 ARGLU1 arginine and glutamate rich 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1605984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12075484 SEPTIN6 septin 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1316585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12075484 SEPTIN6 septin 6 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1316585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 12075484 SEPTIN6 septin 6 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1316585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 12075484 SEPTIN6 septin 6 gene DOID:12849 autistic disorder ISO RGD:1316585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12075484 SEPTIN6 septin 6 gene DOID:630 genetic disease ISO RGD:1316585 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075513 ACSF3 acyl-CoA synthetase family member 3 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1604214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 12075513 ACSF3 acyl-CoA synthetase family member 3 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1604214 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12075513 ACSF3 acyl-CoA synthetase family member 3 gene DOID:0111263 combined malonic and methylmalonic acidemia ISO RGD:1604214 D RGD:7240710 20180130 OMIM 12075513 ACSF3 acyl-CoA synthetase family member 3 gene DOID:0111263 combined malonic and methylmalonic acidemia ISO RGD:1604214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined malonic and methylmalonic acidemia PMID:16199547|PMID:17576681|PMID:21785126|PMID:21841779|PMID:22421630|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26827111|PMID:26915364|PMID:28492532|PMID:29144512|PMID:29555771|PMID:29858964|PMID:30041674|PMID:30487145|PMID:30609409|PMID:30740739|PMID:31376476|PMID:31462756|PMID:33223529|PMID:9030548|PMID:9536098 12075513 ACSF3 acyl-CoA synthetase family member 3 gene DOID:14749 methylmalonic acidemia ISO RGD:1604214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:21785126|PMID:21841779|PMID:22421630|PMID:25741868|PMID:26827111|PMID:26915364|PMID:28492532|PMID:29144512|PMID:29858964|PMID:30041674|PMID:30740739|PMID:31376476|PMID:9030548 12075513 ACSF3 acyl-CoA synthetase family member 3 gene DOID:14780 KBG syndrome ISO RGD:1604214 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316|PMID:31690835 12075513 ACSF3 acyl-CoA synthetase family member 3 gene DOID:630 genetic disease ISO RGD:1604214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21841779|PMID:25741868|PMID:26827111|PMID:28492532 12075513 ACSF3 acyl-CoA synthetase family member 3 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1604214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12075513 ACSF3 acyl-CoA synthetase family member 3 gene DOID:9005126 Malonic Aciduria ISO RGD:1604214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21841779 12075513 ACSF3 acyl-CoA synthetase family member 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1604214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12075551 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:24358150|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30410802|PMID:31785789|PMID:33798445|PMID:9536098 12075551 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:0080600 COVID-19 ISO RGD:737609 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12075551 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:24358150|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30410802|PMID:31785789|PMID:33798445|PMID:9536098 12075551 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:12859 choreatic disease ISO RGD:737609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14660671 12075551 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:1825 childhood absence epilepsy ISO RGD:737609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14660671 12075551 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:1826 epilepsy ISO RGD:737609 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12075551 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:630 genetic disease ISO RGD:737609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:30410802|PMID:9536098 12075551 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:631360 D RGD:9068941 20200609 RGD PMID:28469787|REF_RGD_ID:13513983 12075551 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:737609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 12075551 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9004538 Hearing Loss ISO RGD:737609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27798183 12075551 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9004866 Ataxia ISO RGD:737609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14660671 12075551 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:631360 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:28469787|REF_RGD_ID:13513983 12075551 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:737609 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:28469787|REF_RGD_ID:13513983 12075551 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9007456 Female Infertility ISO RGD:737609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14660671 12075551 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9009196 Cerebellar Atrophy with Seizures and Variable Developmental Delay ISO RGD:737609 D RGD:7240710 20190814 OMIM 12075551 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9009196 Cerebellar Atrophy with Seizures and Variable Developmental Delay ISO RGD:737609 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay PMID:17576681|PMID:18487195|PMID:23339110|PMID:24358150|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29997391|PMID:30410802|PMID:31402629|PMID:9536098 12075551 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:737609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12075593 NKX6-2 NK6 homeobox 2 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1316381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12075593 NKX6-2 NK6 homeobox 2 gene DOID:0080252 spastic ataxia 8 ISO RGD:1316381 D RGD:7240710 20190315 OMIM 12075593 NKX6-2 NK6 homeobox 2 gene DOID:0080252 spastic ataxia 8 ISO RGD:1316381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy PMID:25741868|PMID:28492532|PMID:28575651|PMID:30285346|PMID:31509304|PMID:32860008 12075593 NKX6-2 NK6 homeobox 2 gene DOID:630 genetic disease ISO RGD:1316381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12075601 KRTAP3-1 keratin associated protein 3-1 gene DOID:630 genetic disease ISO RGD:1314968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075616 RD3 RD3 regulator of GUCY2D gene DOID:0110080 Leber congenital amaurosis 12 ISO RGD:1603852 D RGD:7240710 20210114 OMIM 12075616 RD3 RD3 regulator of GUCY2D gene DOID:0110080 Leber congenital amaurosis 12 ISO RGD:1603852 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 12 PMID:17186464|PMID:17576681|PMID:20301475|PMID:21928830|PMID:22531706|PMID:23301801|PMID:23308101|PMID:24265693|PMID:24516651|PMID:25741868|PMID:27422788|PMID:28492532|PMID:29068479|PMID:9536098 12075616 RD3 RD3 regulator of GUCY2D gene DOID:0110080 Leber congenital amaurosis 12 treatment ISO RGD:1614303 D RGD:9068941 20210122 RGD PMID:23740938|REF_RGD_ID:11560490 12075616 RD3 RD3 regulator of GUCY2D gene DOID:14791 Leber congenital amaurosis ISO RGD:1603852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 12075616 RD3 RD3 regulator of GUCY2D gene DOID:1540 parathyroid carcinoma ISO RGD:1603852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12075616 RD3 RD3 regulator of GUCY2D gene DOID:630 genetic disease ISO RGD:1603852 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12075616 RD3 RD3 regulator of GUCY2D gene DOID:8466 retinal degeneration ISO RGD:1603852 D RGD:9068941 20210122 RGD DNA:mutations:splice junction,cds: PMID:17186464|REF_RGD_ID:11560484 12075616 RD3 RD3 regulator of GUCY2D gene DOID:8466 retinal degeneration ISO RGD:1614303 D RGD:9068941 20210122 RGD DNA:nonsense mutation:cds: PMID:17186464|REF_RGD_ID:11560484 12075616 RD3 RD3 regulator of GUCY2D gene DOID:9008296 Eye Abnormalities ISO RGD:1603852 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:23308101|PMID:25741868|PMID:28492532 12075616 RD3 RD3 regulator of GUCY2D gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12075659 SART1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:736742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 12075659 SART1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP gene DOID:1059 intellectual disability ISO RGD:736742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12075659 SART1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12075659 SART1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP gene DOID:2746 glycogen storage disease V ISO RGD:736742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12075659 SART1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP gene DOID:630 genetic disease ISO RGD:736742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075659 SART1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:736742 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12075659 SART1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:736742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12075682 LCN8 lipocalin 8 gene DOID:0050777 Joubert syndrome ISO RGD:1343207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12075682 LCN8 lipocalin 8 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1343207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12075682 LCN8 lipocalin 8 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1343207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12075682 LCN8 lipocalin 8 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1343207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12075682 LCN8 lipocalin 8 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1343207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12075682 LCN8 lipocalin 8 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1343207 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12075682 LCN8 lipocalin 8 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1343207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12075682 LCN8 lipocalin 8 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1343207 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12075682 LCN8 lipocalin 8 gene DOID:0081097 Rafiq syndrome ISO RGD:1343207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12075682 LCN8 lipocalin 8 gene DOID:3652 Leigh disease ISO RGD:1343207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12075682 LCN8 lipocalin 8 gene DOID:630 genetic disease ISO RGD:1343207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075682 LCN8 lipocalin 8 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1343207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12075708 RAVER1 ribonucleoprotein, PTB binding 1 gene DOID:630 genetic disease ISO RGD:1603914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075734 FHL2 four and a half LIM domains 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1350947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy 12075734 FHL2 four and a half LIM domains 2 gene DOID:0050700 cardiomyopathy ISO RGD:1350947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:17416352|PMID:24033266|PMID:25741868|PMID:26627873|PMID:28492532|PMID:31333075|PMID:31568572 12075734 FHL2 four and a half LIM domains 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1350947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 12075734 FHL2 four and a half LIM domains 2 gene DOID:12642 hiatus hernia ISO RGD:1350947 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hiatus hernia PMID:25741868 12075734 FHL2 four and a half LIM domains 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1350947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17416352|PMID:17576681|PMID:24033266|PMID:25358972|PMID:25741868|PMID:26627873|PMID:28166811|PMID:28492532|PMID:31333075|PMID:31568572|PMID:9536098 12075734 FHL2 four and a half LIM domains 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1350947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17416352|PMID:17576681|PMID:24033266|PMID:25358972|PMID:25741868|PMID:26627873|PMID:27532257|PMID:28166811|PMID:28492532|PMID:31333075|PMID:31568572|PMID:9536098 12075734 FHL2 four and a half LIM domains 2 gene DOID:630 genetic disease ISO RGD:1350947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12075734 FHL2 four and a half LIM domains 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1350947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 12075734 FHL2 four and a half LIM domains 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12075734 FHL2 four and a half LIM domains 2 gene DOID:9003936 Cardiomegaly ISO RGD:1350947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25358972 12075734 FHL2 four and a half LIM domains 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1350947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682292 12075734 FHL2 four and a half LIM domains 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1350947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12075753 CDC42EP3 CDC42 effector protein 3 gene DOID:0080690 RASopathy ISO RGD:1314141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12075753 CDC42EP3 CDC42 effector protein 3 gene DOID:630 genetic disease ISO RGD:1314141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075763 DHX30 DExH-box helicase 30 gene DOID:12849 autistic disorder ISO RGD:1318916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:28327206|PMID:29100085|PMID:32581362 12075763 DHX30 DExH-box helicase 30 gene DOID:1826 epilepsy ISO RGD:1318916 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:29100085 12075763 DHX30 DExH-box helicase 30 gene DOID:630 genetic disease ISO RGD:1318916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:29100085 12075763 DHX30 DExH-box helicase 30 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12075763 DHX30 DExH-box helicase 30 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1318916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12075763 DHX30 DExH-box helicase 30 gene DOID:9008086 Developmental Disabilities ISO RGD:1318916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28327206|PMID:29100085|PMID:32581362 12075763 DHX30 DExH-box helicase 30 gene DOID:9008363 GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT ISO RGD:1318916 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay with or without impaired intellectual development PMID:25741868 12075763 DHX30 DExH-box helicase 30 gene DOID:9009099 NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE ISO RGD:1318916 D RGD:7240710 20190315 OMIM 12075763 DHX30 DExH-box helicase 30 gene DOID:9009099 NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE ISO RGD:1318916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with severe motor impairment and absent language PMID:25741868|PMID:28327206|PMID:28492532|PMID:29100085|PMID:32581362|PMID:34020708 12075802 TNS2 tensin 2 gene DOID:0060852 Pierson syndrome ISO RGD:1615728 D RGD:9068941 20220825 MouseDO OMIM:609049 12075802 TNS2 tensin 2 gene DOID:1184 nephrotic syndrome ISO RGD:1322097 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:29773874 12075802 TNS2 tensin 2 gene DOID:630 genetic disease ISO RGD:1322097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29773874 12075833 IRX4 iroquois homeobox 4 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1319589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 12075833 IRX4 iroquois homeobox 4 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1319589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12075833 IRX4 iroquois homeobox 4 gene DOID:630 genetic disease ISO RGD:1319589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Disorder | ClinVar Annotator: match by term: Inborn genetic diseases 12075833 IRX4 iroquois homeobox 4 gene DOID:6419 tetralogy of Fallot ISO RGD:1319589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:25741868 12075833 IRX4 iroquois homeobox 4 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1319589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12075833 IRX4 iroquois homeobox 4 gene DOID:9003936 Cardiomegaly ISO RGD:1319590 D RGD:9068941 20200609 RGD PMID:11238910|REF_RGD_ID:1582289 12075833 IRX4 iroquois homeobox 4 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1319589 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 12075842 C8B complement C8 beta chain gene DOID:0060299 complement component 6 deficiency ISO RGD:1352674 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Complement component 6 deficiency PMID:14767900|PMID:19434484|PMID:24033266|PMID:25525159|PMID:25741868|PMID:27183977|PMID:28368462|PMID:28492532|PMID:30609409|PMID:31980526|PMID:7594510|PMID:8098723|PMID:8365729 12075842 C8B complement C8 beta chain gene DOID:0060302 type II complement component 8 deficiency ISO RGD:1352674 D RGD:7240710 20180130 OMIM 12075842 C8B complement C8 beta chain gene DOID:0060302 type II complement component 8 deficiency ISO RGD:1352674 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type II complement component 8 deficiency PMID:14767900|PMID:19434484|PMID:24033266|PMID:25525159|PMID:25741868|PMID:27183977|PMID:28368462|PMID:28492532|PMID:30609409|PMID:31440263|PMID:31980526|PMID:7594510|PMID:8098723|PMID:8365729 12075842 C8B complement C8 beta chain gene DOID:5844 myocardial infarction ISO RGD:2239 D RGD:9068941 20200609 RGD PMID:7515561|REF_RGD_ID:1600501 12075842 C8B complement C8 beta chain gene DOID:612 primary immunodeficiency disease ISO RGD:1352674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8098723 12075842 C8B complement C8 beta chain gene DOID:630 genetic disease ISO RGD:1352674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12075842 C8B complement C8 beta chain gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1352674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7980680 12075842 C8B complement C8 beta chain gene DOID:9008538 Neisseriaceae Infections ISO RGD:1352674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8098723 12075842 C8B complement C8 beta chain gene DOID:9471 meningitis ISO RGD:1352674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8098723 12075858 CTCF CCCTC-binding factor gene DOID:0050671 female breast cancer disease_progression ISO RGD:733105 D RGD:9068941 20220211 RGD DNA:missense mutation, silent mutation:Q216H, S1455S, breast (human) PMID:32435142|REF_RGD_ID:151356743 12075858 CTCF CCCTC-binding factor gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:733105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 12075858 CTCF CCCTC-binding factor gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:733105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 12075858 CTCF CCCTC-binding factor gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:733105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12075858 CTCF CCCTC-binding factor gene DOID:0070051 autosomal dominant intellectual developmental disorder 21 ISO RGD:733105 D RGD:7240710 20180130 OMIM 12075858 CTCF CCCTC-binding factor gene DOID:0070051 autosomal dominant intellectual developmental disorder 21 ISO RGD:733105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome PMID:23746550|PMID:25533962|PMID:25741868|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28529057|PMID:29076501|PMID:30893510|PMID:31239556|PMID:31785789|PMID:33004838|PMID:33644862|PMID:34374989|PMID:34657170 12075858 CTCF CCCTC-binding factor gene DOID:0080144 childhood acute lymphocytic leukemia disease_progression ISO RGD:733105 D RGD:9068941 20220217 RGD mRNA, protein:increased expression:bone marrow, blood (human) PMID:24393203|REF_RGD_ID:151356757 12075858 CTCF CCCTC-binding factor gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:733105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:27993330 12075858 CTCF CCCTC-binding factor gene DOID:1059 intellectual disability ISO RGD:733105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12075858 CTCF CCCTC-binding factor gene DOID:1612 breast cancer severity ISO RGD:733105 D RGD:9068941 20220217 RGD protein:alternative form, increased expression:breast tumor (human) PMID:19737964|REF_RGD_ID:151356756 12075858 CTCF CCCTC-binding factor gene DOID:2513 basal cell carcinoma ISO RGD:733105 D RGD:9068941 20220210 RGD DNA:mutations:multiple (human) PMID:27974201|REF_RGD_ID:151356739 12075858 CTCF CCCTC-binding factor gene DOID:3151 skin squamous cell carcinoma ISO RGD:733105 D RGD:9068941 20220210 RGD DNA:mutations:multiple (human) PMID:27974201|REF_RGD_ID:151356739 12075858 CTCF CCCTC-binding factor gene DOID:3459 breast carcinoma ISO RGD:733105 D RGD:9068941 20220217 RGD protein:altered expression:breast tumor (human) PMID:15354217|REF_RGD_ID:151356910 12075858 CTCF CCCTC-binding factor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:733105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28671688 12075858 CTCF CCCTC-binding factor gene DOID:630 genetic disease ISO RGD:733105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18654629|PMID:19563753|PMID:22354838|PMID:23746550|PMID:25533962|PMID:25741868|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28529057|PMID:28619046|PMID:30893510|PMID:31239556|PMID:31785789|PMID:33004838|PMID:33644862|PMID:34374989 12075858 CTCF CCCTC-binding factor gene DOID:8923 skin melanoma ISO RGD:733105 D RGD:9068941 20220210 RGD DNA:mutations:multiple (human) PMID:27974201|REF_RGD_ID:151356739 12075858 CTCF CCCTC-binding factor gene DOID:9002170 Experimental Neoplasms ISO RGD:733105 D RGD:9068941 20220217 RGD human breast cancer cells in mouse model PMID:21896759|REF_RGD_ID:151356745 12075858 CTCF CCCTC-binding factor gene DOID:9007748 Retinal Neovascularization ISO RGD:733106 D RGD:9068941 20220217 RGD PMID:21896759|REF_RGD_ID:151356745 12075881 PRDM4 PR/SET domain 4 gene DOID:630 genetic disease ISO RGD:732265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075900 KHDRBS2 KH RNA binding domain containing, signal transduction associated 2 gene DOID:1909 melanoma ISO RGD:1349535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 12075900 KHDRBS2 KH RNA binding domain containing, signal transduction associated 2 gene DOID:630 genetic disease ISO RGD:1349535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075942 KHDC3L KH domain containing 3 like, subcortical maternal complex member gene DOID:3659 sialuria ISO RGD:1604735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 12075942 KHDC3L KH domain containing 3 like, subcortical maternal complex member gene DOID:630 genetic disease ISO RGD:1604735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075942 KHDC3L KH domain containing 3 like, subcortical maternal complex member gene DOID:9005147 Hydatidiform Mole ISO RGD:1604735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydatidiform mole PMID:25741868 12075942 KHDC3L KH domain containing 3 like, subcortical maternal complex member gene DOID:9006297 Hydatidiform Mole, Recurrent, 2 ISO RGD:1604735 D RGD:7240710 20180130 OMIM 12075942 KHDC3L KH domain containing 3 like, subcortical maternal complex member gene DOID:9006297 Hydatidiform Mole, Recurrent, 2 ISO RGD:1604735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 2 PMID:11932746|PMID:19246479|PMID:21623199|PMID:21885028|PMID:23125094|PMID:23232697|PMID:24033266 12075947 GUCA2A guanylate cyclase activator 2A gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:735414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12075947 GUCA2A guanylate cyclase activator 2A gene DOID:630 genetic disease ISO RGD:735414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075953 UNC13D unc-13 homolog D gene DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 ISO RGD:1604204 D RGD:7240710 20180130 OMIM 12075953 UNC13D unc-13 homolog D gene DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 ISO RGD:1604204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 3 PMID:10459864|PMID:14622600|PMID:15466010|PMID:15548590|PMID:16199547|PMID:16278825|PMID:16825436|PMID:17576681|PMID:17993578|PMID:18240215|PMID:18492689|PMID:18759271|PMID:19484379|PMID:19704116|PMID:19903216|PMID:20015888|PMID:20823128|PMID:21094958|PMID:21152410|PMID:21182842|PMID:21248318|PMID:21600143|PMID:21653941|PMID:21674762|PMID:21755595|PMID:21881043|PMID:21931115|PMID:22508512|PMID:23180437|PMID:23560006|PMID:23669735|PMID:23672263|PMID:23840885|PMID:24033266|PMID:24043286|PMID:24139496|PMID:24309606|PMID:24459464|PMID:24470399|PMID:24825797|PMID:24842371|PMID:24916509|PMID:24935083|PMID:25502423|PMID:25553300|PMID:25573973|PMID:25741868|PMID:25901543|PMID:26342526|PMID:26419432|PMID:26684649|PMID:27123661|PMID:27164702|PMID:27209435|PMID:27781387|PMID:27872624|PMID:27896523|PMID:27914778|PMID:28353193|PMID:28399723|PMID:28492532|PMID:28748566|PMID:28848550|PMID:29113160|PMID:29262924|PMID:29357941|PMID:29409136|PMID:29415165|PMID:29549174|PMID:29665027|PMID:29783935|PMID:2978935|PMID:29864493|PMID:29930202|PMID:30220951|PMID:30899265|PMID:31388699|PMID:31681265|PMID:32135276|PMID:32245292|PMID:32327331|PMID:32375849|PMID:32542393|PMID:32638196|PMID:32888943|PMID:33658321|PMID:33746956|PMID:34083498|PMID:34170459|PMID:34339548|PMID:9536098 12075953 UNC13D unc-13 homolog D gene DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 susceptibility ISO RGD:1604204 D RGD:9068941 20200609 RGD DNA:deletions, insertion, snps:exons, intron:multiple (human) PMID:14622600|REF_RGD_ID:1600451 12075953 UNC13D unc-13 homolog D gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1604204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10459864|PMID:14622600|PMID:15466010|PMID:16199547|PMID:16278825|PMID:16825436|PMID:17576681|PMID:17993578|PMID:18240215|PMID:18492689|PMID:18759271|PMID:19484379|PMID:19704116|PMID:20823128|PMID:21094958|PMID:21152410|PMID:21248318|PMID:21600143|PMID:21674762|PMID:21755595|PMID:21881043|PMID:23180437|PMID:23840885|PMID:24033266|PMID:24139496|PMID:24459464|PMID:24470399|PMID:24916509|PMID:25502423|PMID:25573973|PMID:25741868|PMID:26342526|PMID:28399723|PMID:28492532|PMID:28748566|PMID:29113160|PMID:29262924|PMID:29357941|PMID:29415165|PMID:29549174|PMID:30899265|PMID:32375849|PMID:32542393|PMID:32638196|PMID:33746956|PMID:34339548|PMID:9536098 12075953 UNC13D unc-13 homolog D gene DOID:630 genetic disease ISO RGD:1604204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12075953 UNC13D unc-13 homolog D gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12075953 UNC13D unc-13 homolog D gene DOID:9004404 Familial Hemophagocytic Lymphohistiocytoses ISO RGD:1604204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis PMID:14622600|PMID:16778144|PMID:16825436|PMID:20823128|PMID:21248318|PMID:21931115|PMID:23180437|PMID:23560006|PMID:24470399|PMID:24825797|PMID:24842371|PMID:24935083|PMID:25553300|PMID:25573973|PMID:25741868|PMID:27123661|PMID:27896523|PMID:28492532|PMID:28848550|PMID:29262924|PMID:29312353|PMID:29549174|PMID:31388699|PMID:32327331|PMID:32542393|PMID:33746956 12075997 GAB1 GRB2 associated binding protein 1 gene DOID:0110484 autosomal recessive nonsyndromic deafness 26 ISO RGD:1322354 D RGD:7240710 20190315 OMIM 12075997 GAB1 GRB2 associated binding protein 1 gene DOID:0110484 autosomal recessive nonsyndromic deafness 26 ISO RGD:1322354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 26 PMID:11101839|PMID:25741868|PMID:29408807 12075997 GAB1 GRB2 associated binding protein 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1322354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment 12075997 GAB1 GRB2 associated binding protein 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1322354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12075997 GAB1 GRB2 associated binding protein 1 gene DOID:630 genetic disease ISO RGD:1322354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12075997 GAB1 GRB2 associated binding protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322355 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation: : PMID:25617348|REF_RGD_ID:14995329 12075997 GAB1 GRB2 associated binding protein 1 gene DOID:9008114 Helicobacter Infections susceptibility ISO RGD:1322354 D RGD:9068941 20200925 RGD DNA:SNP:intron: PMID:17211494|REF_RGD_ID:39128202 12076024 MRPL54 mitochondrial ribosomal protein L54 gene DOID:13938 amenorrhea ISO RGD:1313872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12076024 MRPL54 mitochondrial ribosomal protein L54 gene DOID:630 genetic disease ISO RGD:1313872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076031 ZNF143 zinc finger protein 143 gene DOID:630 genetic disease ISO RGD:1313824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076056 OLFM4 olfactomedin 4 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1323306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12076056 OLFM4 olfactomedin 4 gene DOID:1059 intellectual disability ISO RGD:1323306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12076056 OLFM4 olfactomedin 4 gene DOID:289 endometriosis ISO RGD:1323306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21048224 12076056 OLFM4 olfactomedin 4 gene DOID:630 genetic disease ISO RGD:1323306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076068 PCSK2 proprotein convertase subtilisin/kexin type 2 gene DOID:0110264 cataract 33 ISO RGD:736345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 33 PMID:28492532 12076068 PCSK2 proprotein convertase subtilisin/kexin type 2 gene DOID:5844 myocardial infarction ISO RGD:736345 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs6080699) (human) PMID:20036365|REF_RGD_ID:6483554 12076068 PCSK2 proprotein convertase subtilisin/kexin type 2 gene DOID:630 genetic disease ISO RGD:736345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076068 PCSK2 proprotein convertase subtilisin/kexin type 2 gene DOID:784 chronic kidney disease ISO RGD:3273 D RGD:9068941 20200609 RGD PMID:18039782|REF_RGD_ID:6483556 12076068 PCSK2 proprotein convertase subtilisin/kexin type 2 gene DOID:9004009 Reperfusion Injury ISO RGD:3273 D RGD:9068941 20200609 RGD PMID:19142196|REF_RGD_ID:6483555 12076068 PCSK2 proprotein convertase subtilisin/kexin type 2 gene DOID:9004009 Reperfusion Injury ISO RGD:736346 D RGD:9068941 20200609 RGD PMID:19142196|REF_RGD_ID:6483555 12076068 PCSK2 proprotein convertase subtilisin/kexin type 2 gene DOID:9005372 Inflammation ISO RGD:3273 D RGD:9068941 20200609 RGD PMID:14630714|REF_RGD_ID:2308900 12076068 PCSK2 proprotein convertase subtilisin/kexin type 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3273 D RGD:9068941 20200609 RGD mRNA:increased expression:spleen PMID:11730986|REF_RGD_ID:2308905 12076068 PCSK2 proprotein convertase subtilisin/kexin type 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12076068 PCSK2 proprotein convertase subtilisin/kexin type 2 gene DOID:9005930 Endotoxemia ISO RGD:3273 D RGD:9068941 20200609 RGD PMID:16337011|REF_RGD_ID:6483567 12076068 PCSK2 proprotein convertase subtilisin/kexin type 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12076068 PCSK2 proprotein convertase subtilisin/kexin type 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736345 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2CA (human) PMID:7698505|REF_RGD_ID:2308936 12076084 HCK HCK proto-oncogene, Src family tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:732471 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33617879 12076084 HCK HCK proto-oncogene, Src family tyrosine kinase gene DOID:14566 disease of cellular proliferation ISO RGD:732471 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33617879 12076084 HCK HCK proto-oncogene, Src family tyrosine kinase gene DOID:417 autoimmune disease ISO RGD:732471 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33617879 12076084 HCK HCK proto-oncogene, Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:732471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076084 HCK HCK proto-oncogene, Src family tyrosine kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12076084 HCK HCK proto-oncogene, Src family tyrosine kinase gene DOID:9005765 Autoinflammation with Pulmonary and Cutaneous Vasculitis ISO RGD:732471 D RGD:7240710 20230505 OMIM 12076084 HCK HCK proto-oncogene, Src family tyrosine kinase gene DOID:9005765 Autoinflammation with Pulmonary and Cutaneous Vasculitis ISO RGD:732471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autoinflammation with pulmonary and cutaneous vasculitis PMID:34536415 12076084 HCK HCK proto-oncogene, Src family tyrosine kinase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17344919 12076101 CRYL1 crystallin lambda 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:735568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:11807148|PMID:12917317|PMID:14571368|PMID:14681039|PMID:15994881|PMID:19047647|PMID:22098503|PMID:23303923|PMID:24158611|PMID:28823936|PMID:30311386 12076101 CRYL1 crystallin lambda 1 gene DOID:0110253 cataract 14 multiple types ISO RGD:735568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 12076101 CRYL1 crystallin lambda 1 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:735568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:15994881|PMID:17041943|PMID:18324688|PMID:20236118|PMID:28492532 12076101 CRYL1 crystallin lambda 1 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:735568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 PMID:11807148|PMID:12172394|PMID:12885339|PMID:14571368|PMID:15638823|PMID:15994881|PMID:17041943|PMID:18324688|PMID:20236118|PMID:27480936|PMID:28492532 12076101 CRYL1 crystallin lambda 1 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:735568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:11807148|PMID:12172394|PMID:12885339|PMID:14571368|PMID:15638823|PMID:15994881|PMID:17041943|PMID:18324688|PMID:27480936|PMID:28492532 12076101 CRYL1 crystallin lambda 1 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:735568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:27480936|PMID:28492532 12076101 CRYL1 crystallin lambda 1 gene DOID:14693 Clouston syndrome ISO RGD:735568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:27480936|PMID:28492532 12076101 CRYL1 crystallin lambda 1 gene DOID:2121 ectodermal dysplasia ISO RGD:735568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:27480936|PMID:28492532 12076101 CRYL1 crystallin lambda 1 gene DOID:630 genetic disease ISO RGD:735568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076101 CRYL1 crystallin lambda 1 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 12076101 CRYL1 crystallin lambda 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12076122 PXN paxillin gene DOID:3908 lung non-small cell carcinoma ISO RGD:1313984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21159652 12076122 PXN paxillin gene DOID:630 genetic disease ISO RGD:1313984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076122 PXN paxillin gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18492274 12076122 PXN paxillin gene DOID:9004118 Experimental Melanoma ISO RGD:1313984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18492274 12076122 PXN paxillin gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1313984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100775 12076151 TMEM64 transmembrane protein 64 gene DOID:630 genetic disease ISO RGD:1606436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076158 AADACL3 arylacetamide deacetylase like 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602438 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12076158 AADACL3 arylacetamide deacetylase like 3 gene DOID:630 genetic disease ISO RGD:1602438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076166 RHOBTB1 Rho related BTB domain containing 1 gene DOID:630 genetic disease ISO RGD:1315735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076166 RHOBTB1 Rho related BTB domain containing 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1315735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12076208 MYPN myopalladin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1318320 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532|PMID:29016939|PMID:31983221 12076208 MYPN myopalladin gene DOID:0050700 cardiomyopathy ISO RGD:1318320 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:18006477|PMID:20801532|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27884173|PMID:27896284|PMID:28492532 12076208 MYPN myopalladin gene DOID:0060224 atrial fibrillation ISO RGD:1318320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12076208 MYPN myopalladin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1318320 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:18006477|PMID:25741868|PMID:26084686|PMID:28492532|PMID:28798025|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32880476 12076208 MYPN myopalladin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1318320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:26084686|PMID:28492532|PMID:28798025|PMID:30847666 12076208 MYPN myopalladin gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1318320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:24033266|PMID:25741868|PMID:28492532 12076208 MYPN myopalladin gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1318320 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:24033266|PMID:25741868|PMID:28492532 12076208 MYPN myopalladin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1318320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:22286171|PMID:23299917|PMID:24033266|PMID:25741868|PMID:28492532 12076208 MYPN myopalladin gene DOID:0110445 dilated cardiomyopathy 1KK ISO RGD:1318320 D RGD:7240710 20180130 OMIM 12076208 MYPN myopalladin gene DOID:0110445 dilated cardiomyopathy 1KK ISO RGD:1318320 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 4 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 22 PMID:16199547|PMID:17576681|PMID:18006477|PMID:20801532|PMID:22286171|PMID:22337857|PMID:22892539|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24558114|PMID:25163546|PMID:25448463|PMID:25640679|PMID:25741868|PMID:26084686|PMID:26350513|PMID:26383716|PMID:26458567|PMID:26498160|PMID:26899768|PMID:27532257|PMID:27662471|PMID:27884173|PMID:27896284|PMID:28017374|PMID:28087566|PMID:28416588|PMID:28427417|PMID:28492532|PMID:28611029|PMID:28798025|PMID:28831623|PMID:29016939|PMID:29247119|PMID:29447731|PMID:29875424|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30260051|PMID:30471092|PMID:30531895|PMID:30847666|PMID:31110529|PMID:31333075|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32140910|PMID:32880476|PMID:33297573|PMID:33552729|PMID:33658040|PMID:34088380|PMID:34184449|PMID:34426522|PMID:34935411|PMID:9536098 12076208 MYPN myopalladin gene DOID:0110933 nemaline myopathy 11 ISO RGD:1318320 D RGD:7240710 20190315 OMIM 12076208 MYPN myopalladin gene DOID:0110933 nemaline myopathy 11 ISO RGD:1318320 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive PMID:17576681|PMID:18006477|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24558114|PMID:25741868|PMID:26498160|PMID:26899768|PMID:27896284|PMID:28017374|PMID:28220527|PMID:28416588|PMID:28427417|PMID:28492532|PMID:29247119|PMID:29447731|PMID:30471092|PMID:30847666|PMID:31110529|PMID:31333075|PMID:31568572|PMID:31983221|PMID:32880476|PMID:33297573|PMID:34088380|PMID:9536098 12076208 MYPN myopalladin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1318320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:18006477|PMID:20801532|PMID:22286171|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27884173|PMID:27896284|PMID:28492532|PMID:31513939 12076208 MYPN myopalladin gene DOID:12930 dilated cardiomyopathy ISO RGD:1318320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18006477|PMID:20801532|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:26899768|PMID:27884173|PMID:27896284|PMID:28416588|PMID:28492532|PMID:30012837|PMID:31333075|PMID:31568572 12076208 MYPN myopalladin gene DOID:12930 dilated cardiomyopathy ISO RGD:1318320 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18006477|PMID:20801532|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:26899768|PMID:27884173|PMID:27896284|PMID:28416588|PMID:28492532|PMID:30012837|PMID:30847666|PMID:31333075|PMID:31568572 12076208 MYPN myopalladin gene DOID:2843 long QT syndrome ISO RGD:1318320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 12076208 MYPN myopalladin gene DOID:397 restrictive cardiomyopathy ISO RGD:1318320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:25741868|PMID:28492532 12076208 MYPN myopalladin gene DOID:6000 congestive heart failure ISO RGD:1318320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart failure PMID:22286171|PMID:23299917|PMID:24033266|PMID:25741868|PMID:28492532 12076208 MYPN myopalladin gene DOID:630 genetic disease ISO RGD:1318320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12076208 MYPN myopalladin gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1318320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:29447731|PMID:31110529|PMID:33297573 12076208 MYPN myopalladin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1318320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:25741868|PMID:28492532|PMID:29447731|PMID:31110529|PMID:33297573 12076208 MYPN myopalladin gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1318320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:25741868|PMID:28492532 12076208 MYPN myopalladin gene DOID:9007820 Sudden Death ISO RGD:1318320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:25741868|PMID:28492532 12076242 SDR42E1 short chain dehydrogenase/reductase family 42E, member 1 gene DOID:630 genetic disease ISO RGD:1601729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076242 SDR42E1 short chain dehydrogenase/reductase family 42E, member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1601729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12076255 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1347377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12076255 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1347377 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12076255 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q gene DOID:0112213 developmental and epileptic encephalopathy 77 ISO RGD:1347377 D RGD:7240710 20190911 OMIM 12076255 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q gene DOID:0112213 developmental and epileptic encephalopathy 77 ISO RGD:1347377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:31148362|PMID:32588908 12076255 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q gene DOID:1826 epilepsy ISO RGD:1347377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:16199547|PMID:17576681|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:31148362|PMID:32588908|PMID:9536098 12076255 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1347377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12076255 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q gene DOID:630 genetic disease ISO RGD:1347377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:31148362|PMID:32588908 12076255 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q gene DOID:9008086 Developmental Disabilities ISO RGD:1347377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24463883|PMID:25558065|PMID:28492532 12076269 PRRG3 proline rich and Gla domain 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12076269 PRRG3 proline rich and Gla domain 3 gene DOID:12849 autistic disorder ISO RGD:1343058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12076269 PRRG3 proline rich and Gla domain 3 gene DOID:630 genetic disease ISO RGD:1343058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076294 LAD1 ladinin 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1321680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12076294 LAD1 ladinin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1321680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12076294 LAD1 ladinin 1 gene DOID:630 genetic disease ISO RGD:1321680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076294 LAD1 ladinin 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1321680 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12076294 LAD1 ladinin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12076310 KRT20 keratin 20 gene DOID:299 adenocarcinoma ISO RGD:1347381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 12076310 KRT20 keratin 20 gene DOID:630 genetic disease ISO RGD:1347381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076310 KRT20 keratin 20 gene DOID:9000217 Stomach Neoplasms ISO RGD:1347381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 12076310 KRT20 keratin 20 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347381 D RGD:9068941 20200609 RGD associated with Colorectal Neoplasms PMID:10931219|REF_RGD_ID:2317676 12076310 KRT20 keratin 20 gene DOID:9003694 Cecal Neoplasms ISO RGD:1347381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14688030 12076310 KRT20 keratin 20 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1347381 D RGD:9068941 20220224 RGD PMID:23322277|REF_RGD_ID:151356994 12076322 PHF21B PHD finger protein 21B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1344183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12076322 PHF21B PHD finger protein 21B gene DOID:1059 intellectual disability ISO RGD:1344183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12076322 PHF21B PHD finger protein 21B gene DOID:630 genetic disease ISO RGD:1344183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076339 CKLF chemokine like factor gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1606001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12076339 CKLF chemokine like factor gene DOID:0110255 cataract 5 multiple types ISO RGD:1606001 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 12076339 CKLF chemokine like factor gene DOID:630 genetic disease ISO RGD:1606001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076339 CKLF chemokine like factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12076353 KLK7 kallikrein related peptidase 7 gene DOID:630 genetic disease ISO RGD:1315024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076375 FNDC10 fibronectin type III domain containing 10 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:6480141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12076375 FNDC10 fibronectin type III domain containing 10 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:6480141 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12076375 FNDC10 fibronectin type III domain containing 10 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:6480141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12076375 FNDC10 fibronectin type III domain containing 10 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:6480141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12076375 FNDC10 fibronectin type III domain containing 10 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:6480141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12076375 FNDC10 fibronectin type III domain containing 10 gene DOID:0110994 Joubert syndrome 25 ISO RGD:6480141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12076375 FNDC10 fibronectin type III domain containing 10 gene DOID:0111934 immunodeficiency 38 ISO RGD:6480141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12076375 FNDC10 fibronectin type III domain containing 10 gene DOID:0111935 immunodeficiency 16 ISO RGD:6480141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12076375 FNDC10 fibronectin type III domain containing 10 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:6480141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12076375 FNDC10 fibronectin type III domain containing 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:6480141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12076375 FNDC10 fibronectin type III domain containing 10 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:6480141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12076375 FNDC10 fibronectin type III domain containing 10 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:6480141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12076387 POU2AF3 POU class 2 homeobox associating factor 3 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:2798065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 12076387 POU2AF3 POU class 2 homeobox associating factor 3 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:2798065 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 12076387 POU2AF3 POU class 2 homeobox associating factor 3 gene DOID:1059 intellectual disability ISO RGD:2798065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12076387 POU2AF3 POU class 2 homeobox associating factor 3 gene DOID:12704 ataxia telangiectasia ISO RGD:2798065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12076387 POU2AF3 POU class 2 homeobox associating factor 3 gene DOID:630 genetic disease ISO RGD:2798065 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076387 POU2AF3 POU class 2 homeobox associating factor 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:2798065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12076387 POU2AF3 POU class 2 homeobox associating factor 3 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:2798065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 12076402 MINK1 misshapen like kinase 1 gene DOID:12849 autistic disorder ISO RGD:1604362 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 12076402 MINK1 misshapen like kinase 1 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1604362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:17363247 12076402 MINK1 misshapen like kinase 1 gene DOID:630 genetic disease ISO RGD:1604362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076443 TPP2 tripeptidyl peptidase 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:734318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 12076443 TPP2 tripeptidyl peptidase 2 gene DOID:14701 propionic acidemia ISO RGD:734318 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 12076443 TPP2 tripeptidyl peptidase 2 gene DOID:630 genetic disease ISO RGD:734318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12076443 TPP2 tripeptidyl peptidase 2 gene DOID:9001840 Immunodeficiency 78 with Autoimmunity and Developmental Delay ISO RGD:734318 D RGD:7240710 20210324 OMIM 12076443 TPP2 tripeptidyl peptidase 2 gene DOID:9001840 Immunodeficiency 78 with Autoimmunity and Developmental Delay ISO RGD:734318 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Immunodeficiency 78 with autoimmunity and developmental delay PMID:25414442|PMID:25525876|PMID:25741868|PMID:28492532|PMID:30533531|PMID:33586135 12076443 TPP2 tripeptidyl peptidase 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:734318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12076443 TPP2 tripeptidyl peptidase 2 gene DOID:9004484 Sepsis ISO RGD:621584 D RGD:9068941 20211217 RGD mRNA, protein:increased expression, increased activity:extensor digitorum longus (rat) PMID:12147224|REF_RGD_ID:634435 12076443 TPP2 tripeptidyl peptidase 2 gene DOID:9008086 Developmental Disabilities ISO RGD:734318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:33586135 12076443 TPP2 tripeptidyl peptidase 2 gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:734318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:16199547|PMID:17576681|PMID:25414442|PMID:25640679|PMID:25741868|PMID:28492532|PMID:30533531|PMID:33583942|PMID:33586135|PMID:9536098 12076486 MIR133B microRNA mir-133b gene DOID:684 hepatocellular carcinoma severity ISO RGD:1352188 D RGD:9068941 20230128 RGD mRNA:decreased expression:liver(human) PMID:30391496|REF_RGD_ID:155804298 12076487 MIR208B microRNA mir-208b gene DOID:0060439 lysinuric protein intolerance ISO RGD:2290220 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12076487 MIR208B microRNA mir-208b gene DOID:0110320 hypertrophic cardiomyopathy 14 ISO RGD:2290220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 PMID:28492532 12076487 MIR208B microRNA mir-208b gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2290220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12076487 MIR208B microRNA mir-208b gene DOID:9000265 Specific Granule Deficiency ISO RGD:2290220 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 12076487 MIR208B microRNA mir-208b gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:2290220 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12076490 MIR105B microRNA mir-105b gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12076490 MIR105B microRNA mir-105b gene DOID:12849 autistic disorder ISO RGD:1350334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12076490 MIR105B microRNA mir-105b gene DOID:9004994 Embryo Loss ISO RGD:2314082 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038060 12076570 GIMAP7 GTPase, IMAP family member 7 gene DOID:0080600 COVID-19 ISO RGD:1343694 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 12076570 GIMAP7 GTPase, IMAP family member 7 gene DOID:2843 long QT syndrome ISO RGD:1343694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 12076570 GIMAP7 GTPase, IMAP family member 7 gene DOID:630 genetic disease ISO RGD:1343694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076576 MLH3 mutL homolog 3 gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:1319451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:25741868 12076576 MLH3 mutL homolog 3 gene DOID:0070271 Lynch syndrome 1 ISO RGD:1319451 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:28492532 12076576 MLH3 mutL homolog 3 gene DOID:0070276 hereditary nonpolyposis colorectal cancer type 7 ISO RGD:1319451 D RGD:7240710 20180130 OMIM 12076576 MLH3 mutL homolog 3 gene DOID:0070276 hereditary nonpolyposis colorectal cancer type 7 ISO RGD:1319451 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 7 PMID:11586295|PMID:12702580|PMID:12800209|PMID:16199547|PMID:16885347|PMID:16981255|PMID:17312306|PMID:17576681|PMID:17656264|PMID:18414213|PMID:18521850|PMID:19156873|PMID:21153778|PMID:22290698|PMID:23376243|PMID:23960188|PMID:24549055|PMID:25142776|PMID:25637381|PMID:25741868|PMID:25927356|PMID:26296701|PMID:26546047|PMID:27696107|PMID:28166811|PMID:28195393|PMID:28492532|PMID:29212164|PMID:29641532|PMID:29945567|PMID:30614234|PMID:31043711|PMID:31921681|PMID:32984025|PMID:33294277|PMID:34106356|PMID:34408140|PMID:9536098 12076576 MLH3 mutL homolog 3 gene DOID:1059 intellectual disability ISO RGD:1319451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12076576 MLH3 mutL homolog 3 gene DOID:1380 endometrial cancer ISO RGD:1319451 D RGD:7240710 20190213 OMIM 12076576 MLH3 mutL homolog 3 gene DOID:1380 endometrial cancer ISO RGD:1319451 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Endometrial cancer PMID:12702580|PMID:28195393 12076576 MLH3 mutL homolog 3 gene DOID:1520 colon carcinoma ISO RGD:1319451 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:11317354|PMID:35292633 12076576 MLH3 mutL homolog 3 gene DOID:1612 breast cancer ISO RGD:1319451 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532 12076576 MLH3 mutL homolog 3 gene DOID:2394 ovarian cancer ISO RGD:1319451 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 12076576 MLH3 mutL homolog 3 gene DOID:2871 endometrial carcinoma ISO RGD:1319451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:12702580|PMID:17656264|PMID:22290698|PMID:25741868|PMID:28492532 12076576 MLH3 mutL homolog 3 gene DOID:3459 breast carcinoma ISO RGD:1319451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:25741868 12076576 MLH3 mutL homolog 3 gene DOID:3883 Lynch syndrome ISO RGD:1319451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:11586295|PMID:18521850|PMID:19156873|PMID:25637381|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29212164 12076576 MLH3 mutL homolog 3 gene DOID:3883 Lynch syndrome ISO RGD:1319451 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:11586295|PMID:12800209|PMID:18521850|PMID:19156873|PMID:25637381|PMID:25741868|PMID:28492532|PMID:29212164 12076576 MLH3 mutL homolog 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:1319451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868|PMID:28492532 12076576 MLH3 mutL homolog 3 gene DOID:630 genetic disease ISO RGD:1319451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12076576 MLH3 mutL homolog 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1319451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16981255 12076576 MLH3 mutL homolog 3 gene DOID:9002704 Leukoencephalopathies ISO RGD:1319451 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CACH/VWM syndrome PMID:25741868 12076576 MLH3 mutL homolog 3 gene DOID:9005348 Leukoencephalopathy with Vanishing White Matter 1 ISO RGD:1319451 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1 PMID:25741868 12076576 MLH3 mutL homolog 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer PMID:25741868|PMID:28492532 12076576 MLH3 mutL homolog 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319451 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11586295|PMID:12702580|PMID:12800209|PMID:16885347|PMID:16981255|PMID:17312306|PMID:17576681|PMID:17656264|PMID:18521850|PMID:19156873|PMID:21153778|PMID:22290698|PMID:23376243|PMID:23960188|PMID:24549055|PMID:25637381|PMID:25741868|PMID:25927356|PMID:26546047|PMID:27696107|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29641532|PMID:29945567|PMID:31043711|PMID:31921681|PMID:32984025|PMID:33606809|PMID:33821390|PMID:9536098 12076576 MLH3 mutL homolog 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11586295|PMID:12702580|PMID:12800209|PMID:16885347|PMID:16981255|PMID:17312306|PMID:17576681|PMID:17656264|PMID:18521850|PMID:19156873|PMID:21153778|PMID:22290698|PMID:23376243|PMID:23960188|PMID:24549055|PMID:25637381|PMID:25741868|PMID:25927356|PMID:26546047|PMID:27696107|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29641532|PMID:29945567|PMID:31043711|PMID:31921681|PMID:32984025|PMID:33294277|PMID:33606809|PMID:33821390|PMID:34106356|PMID:9536098 12076576 MLH3 mutL homolog 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319451 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11317354|PMID:11586295|PMID:12702580|PMID:12800209|PMID:16885347|PMID:16981255|PMID:17312306|PMID:17576681|PMID:17656264|PMID:18521850|PMID:19156873|PMID:21153778|PMID:22290698|PMID:23376243|PMID:23960188|PMID:24549055|PMID:25637381|PMID:25741868|PMID:25927356|PMID:26546047|PMID:27696107|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29641532|PMID:29945567|PMID:31043711|PMID:31921681|PMID:32984025|PMID:33294277|PMID:33606809|PMID:33821390|PMID:34106356|PMID:34408140|PMID:35292633|PMID:9536098 12076576 MLH3 mutL homolog 3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1319451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12076576 MLH3 mutL homolog 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17656264 12076576 MLH3 mutL homolog 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1319451 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 12076576 MLH3 mutL homolog 3 gene DOID:9256 colorectal cancer ISO RGD:1319451 D RGD:7240710 20200226 OMIM 12076576 MLH3 mutL homolog 3 gene DOID:9256 colorectal cancer ISO RGD:1319451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25741868|PMID:28492532|PMID:29212164 12076576 MLH3 mutL homolog 3 gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:1319451 D RGD:9068941 20220825 RGD DNA:SNP:3'utr: (rs108621) PMID:29516665|REF_RGD_ID:153344543 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:0050890 synucleinopathy ameliorates ISO RGD:1561168 D RGD:9068941 20221201 RGD PMID:24927544|REF_RGD_ID:13462057 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:0060180 colitis ISO RGD:1557751 D RGD:9068941 20200609 RGD PMID:21983832|REF_RGD_ID:5508401 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:0060260 ptosis ISO RGD:1353141 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31174552 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:0060368 Parkinson's disease 2 ISO RGD:1353141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Young-onset Parkinson disease PMID:15680455|PMID:15680456|PMID:15680457|PMID:15726496|PMID:15732108|PMID:15811455|PMID:15852371|PMID:15929036|PMID:15955629|PMID:16001413|PMID:16102999|PMID:16115731|PMID:16145815|PMID:16157901|PMID:16172858|PMID:16240353|PMID:16269541|PMID:16311269|PMID:16401756|PMID:16436781|PMID:16436782|PMID:16533964|PMID:16728648|PMID:16750377|PMID:16960813|PMID:16966501|PMID:16966502|PMID:17050822|PMID:17060595|PMID:17215492|PMID:17353388|PMID:17938369|PMID:18539534|PMID:18539535|PMID:18704525|PMID:18981379|PMID:18986508|PMID:19020907|PMID:19283415|PMID:20008657|PMID:20197411|PMID:20301387|PMID:21115957|PMID:21280089|PMID:21753163|PMID:21850687|PMID:22539006|PMID:22575234|PMID:23075850|PMID:23472874|PMID:24033266|PMID:24148854|PMID:24243757|PMID:25330418|PMID:25741868|PMID:26062626|PMID:26251043|PMID:26467025|PMID:28465860|PMID:28492532|PMID:28639421|PMID:29386392|PMID:29402177 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:0060371 Parkinson's disease 8 ISO RGD:1353141 D RGD:7240710 20180130 OMIM 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:0060371 Parkinson's disease 8 ISO RGD:1353141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 8 PMID:15541308|PMID:15541309|PMID:15680455|PMID:15680456|PMID:15680457|PMID:15726496|PMID:15732108|PMID:15811455|PMID:15852371|PMID:15880653|PMID:15925109|PMID:15929036|PMID:15955629|PMID:16001413|PMID:16003110|PMID:16102999|PMID:16115731|PMID:16145815|PMID:16157901|PMID:16157908|PMID:16157909|PMID:16172858|PMID:16199547|PMID:16240353|PMID:16247070|PMID:16251215|PMID:16269443|PMID:16269541|PMID:16272164|PMID:16311269|PMID:16321986|PMID:16333314|PMID:16401756|PMID:16436781|PMID:16436782|PMID:16533964|PMID:16602113|PMID:16616379|PMID:16622854|PMID:16633828|PMID:16728648|PMID:16750377|PMID:16758483|PMID:16788020|PMID:16939701|PMID:16960813|PMID:16966501|PMID:16966502|PMID:16991141|PMID:17019612|PMID:17050822|PMID:17060595|PMID:17078063|PMID:17095157|PMID:17149743|PMID:17179858|PMID:17200152|PMID:17215492|PMID:17222106|PMID:17353388|PMID:17419834|PMID:17442267|PMID:17447891|PMID:17482357|PMID:17523199|PMID:17540608|PMID:17576681|PMID:17584768|PMID:17622782|PMID:17623048|PMID:17659642|PMID:17803033|PMID:17804834|PMID:17914064|PMID:17938369|PMID:18197194|PMID:18213618|PMID:18230735|PMID:18265005|PMID:18337586|PMID:18358451|PMID:18412265|PMID:18539534|PMID:18539535|PMID:18591067|PMID:18688798|PMID:18704525|PMID:18716801|PMID:18781329|PMID:18923807|PMID:18973254|PMID:18973807|PMID:18981379|PMID:18986508|PMID:19006185|PMID:19020907|PMID:19283415|PMID:19308469|PMID:19343804|PMID:19357115|PMID:19405094|PMID:19472409|PMID:19489756|PMID:19527940|PMID:19625296|PMID:19667187|PMID:19699188|PMID:19735093|PMID:19741132|PMID:19781641|PMID:19800393|PMID:20008657|PMID:20177695|PMID:20186690|PMID:20197411|PMID:20301387|PMID:20386743|PMID:20443975|PMID:20642453|PMID:20669299|PMID:20721913|PMID:21060682|PMID:21115957|PMID:21234781|PMID:21280089|PMID:21406209|PMID:21494637|PMID:21538529|PMID:21632271|PMID:21641848|PMID:21658387|PMID:21661047|PMID:21753163|PMID:21796139|PMID:21850687|PMID:21885347|PMID:22004453|PMID:22251894|PMID:22342962|PMID:22415848|PMID:22445250|PMID:22539006|PMID:22575234|PMID:22612223|PMID:22988866|PMID:22988870|PMID:23075850|PMID:23124679|PMID:23241358|PMID:23241745|PMID:23472874|PMID:23600457|PMID:23726462|PMID:23764467|PMID:23913756|PMID:23963289|PMID:24033266|PMID:24082139|PMID:24148854|PMID:24243757|PMID:24351927|PMID:24357540|PMID:24360742|PMID:24470158|PMID:24488318|PMID:24496098|PMID:24565865|PMID:24695735|PMID:24816003|PMID:24821816|PMID:24973808|PMID:25027012|PMID:25127457|PMID:25133958|PMID:25174650|PMID:25174890|PMID:25243190|PMID:25316291|PMID:25330418|PMID:25355420|PMID:25360523|PMID:25378673|PMID:25741868|PMID:25821816|PMID:25943890|PMID:26062626|PMID:26213354|PMID:26251043|PMID:26363496|PMID:26467025|PMID:26930193|PMID:27013965|PMID:27094865|PMID:27111571|PMID:27294386|PMID:27393345|PMID:27832104|PMID:28103901|PMID:28166811|PMID:28453723|PMID:28465860|PMID:28492532|PMID:28639421|PMID:29248340|PMID:29369408|PMID:29386392|PMID:29402177|PMID:29576439|PMID:29800472|PMID:29859640|PMID:30039155|PMID:30502028|PMID:30598256|PMID:30796162|PMID:32171587|PMID:32398759|PMID:32580205|PMID:32677286|PMID:32794657|PMID:33158606|PMID:33281709|PMID:33640967|PMID:33818904|PMID:7898705|PMID:9276200|PMID:9536098 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1353141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:15541309|PMID:15680455|PMID:15680456|PMID:15680457|PMID:15726496|PMID:15732108|PMID:15811455|PMID:15852371|PMID:15929036|PMID:15955629|PMID:16001413|PMID:16102999|PMID:16115731|PMID:16145815|PMID:16157901|PMID:16172858|PMID:16240353|PMID:16269541|PMID:16311269|PMID:16401756|PMID:16436781|PMID:16436782|PMID:16533964|PMID:16728648|PMID:16750377|PMID:16960813|PMID:16966501|PMID:16966502|PMID:17050822|PMID:17060595|PMID:17215492|PMID:17353388|PMID:17938369|PMID:18539534|PMID:18539535|PMID:18704525|PMID:18981379|PMID:18986508|PMID:19020907|PMID:19283415|PMID:20008657|PMID:20197411|PMID:20301387|PMID:21115957|PMID:21280089|PMID:21538529|PMID:21753163|PMID:21850687|PMID:22539006|PMID:22575234|PMID:23075850|PMID:23472874|PMID:24033266|PMID:24148854|PMID:24243757|PMID:24565865|PMID:24660942|PMID:25330418|PMID:25741868|PMID:26062626|PMID:26251043|PMID:26467025|PMID:27111571|PMID:28465860|PMID:28492532|PMID:28639421|PMID:29386392|PMID:29402177 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1353141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:18412265|PMID:18688798|PMID:18716801|PMID:18781329|PMID:19699188|PMID:20301387|PMID:20642453|PMID:21885347|PMID:25243190|PMID:26930193|PMID:28492532 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:0080855 Parkinsonism ISO RGD:1353141 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23046578|PMID:25017139|PMID:26558463 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:0080855 Parkinsonism ISO RGD:1353141 D RGD:9068941 20200609 RGD PMID:20729864|REF_RGD_ID:5508414 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:0110042 Alzheimer's disease 3 ISO RGD:1353141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance PMID:18412265|PMID:18688798|PMID:18716801|PMID:18781329|PMID:19699188|PMID:20301387|PMID:20642453|PMID:21885347|PMID:25243190|PMID:26930193|PMID:28492532 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:1024 leprosy ISO RGD:1353141 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 PMID:26467025|PMID:28492532 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:1289 neurodegenerative disease ISO RGD:1561168 D RGD:9068941 20200609 RGD PMID:24927544|REF_RGD_ID:13462057 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:14330 Parkinson's disease ISO RGD:1353141 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant | ClinVar Annotator: match by term: Parkinson disease PMID:16172858|PMID:16633828|PMID:17019612|PMID:17659642|PMID:18688798|PMID:18704525|PMID:19357115|PMID:19741132|PMID:19800393|PMID:20186690|PMID:20301387|PMID:22612223|PMID:24033266|PMID:25027012|PMID:25243190|PMID:25741868|PMID:26467025|PMID:28103901|PMID:28492532 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:14330 Parkinson's disease no_association ISO RGD:1353141 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G2019S (human) PMID:21483109|REF_RGD_ID:5508406 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1353141 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R1398H (human) PMID:21159540|REF_RGD_ID:5508409 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:162 cancer susceptibility ISO RGD:1353141 D RGD:9068941 20200609 RGD associated with Parkinson Disease;DNA:missense mutation:cds:p.G2019S (human) PMID:20818610|REF_RGD_ID:5508410 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:289 endometriosis ISO RGD:1353141 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1353141 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:21375368|REF_RGD_ID:5508417 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:4450 renal cell carcinoma ISO RGD:1353141 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:630 genetic disease ISO RGD:1353141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15541309|PMID:15680455|PMID:15680456|PMID:15680457|PMID:15726496|PMID:15732108|PMID:15811455|PMID:15852371|PMID:15880653|PMID:15929036|PMID:15955629|PMID:16001413|PMID:16102999|PMID:16115731|PMID:16145815|PMID:16157901|PMID:16157908|PMID:16172858|PMID:16240353|PMID:16251215|PMID:16269443|PMID:16269541|PMID:16311269|PMID:16333314|PMID:16401756|PMID:16436781|PMID:16436782|PMID:16533964|PMID:16602113|PMID:16622854|PMID:16728648|PMID:16750377|PMID:16758483|PMID:16939701|PMID:16960813|PMID:16966501|PMID:16966502|PMID:17050822|PMID:17060595|PMID:17078063|PMID:17215492|PMID:17353388|PMID:17803033|PMID:17938369|PMID:18213618|PMID:18539534|PMID:18539535|PMID:18704525|PMID:18981379|PMID:18986508|PMID:19020907|PMID:19283415|PMID:19357115|PMID:19472409|PMID:19489756|PMID:19527940|PMID:20008657|PMID:20197411|PMID:20301387|PMID:20669299|PMID:21115957|PMID:21234781|PMID:21280089|PMID:21753163|PMID:21850687|PMID:21885347|PMID:22445250|PMID:22539006|PMID:22575234|PMID:23075850|PMID:23472874|PMID:24033266|PMID:24148854|PMID:24243757|PMID:24816003|PMID:25330418|PMID:25741868|PMID:26062626|PMID:26251043|PMID:26467025|PMID:28465860|PMID:28492532|PMID:28639421|PMID:29386392|PMID:29402177|PMID:33158606 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1353141 D RGD:9068941 20200609 RGD PMID:17082220|REF_RGD_ID:5508419 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:8778 Crohn's disease ISO RGD:1353141 D RGD:9068941 20200609 RGD DNA:point mutation: :p.T2397M (rs3761863) (human) PMID:21983832|REF_RGD_ID:5508401 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:9000071 Signs and Symptoms ISO RGD:1353141 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31174552 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:9001981 Weight Loss ISO RGD:1353141 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31174552 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1353141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar atrophy PMID:18412265|PMID:18688798|PMID:18716801|PMID:18781329|PMID:19699188|PMID:20301387|PMID:20642453|PMID:21885347|PMID:25243190|PMID:26930193|PMID:28492532 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:9002955 Nerve Degeneration ISO RGD:1353141 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19741132 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:9008297 Motor Disorders ISO RGD:1353141 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31174552 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:9008514 Psychomotor Disorders ISO RGD:1353141 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31174552 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:9255 frontotemporal dementia ISO RGD:1353141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia 12076607 LRRK2 leucine rich repeat kinase 2 gene DOID:9743 diabetic neuropathy ISO RGD:1561168 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:cerebellum, Purkinje cell PMID:24810053|REF_RGD_ID:13462056 12076666 JMJD8 jumonji domain containing 8 gene DOID:0080029 autosomal recessive spinocerebellar ataxia 16 ISO RGD:1601801 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 PMID:24113144|PMID:24719489|PMID:24742043|PMID:25741868|PMID:28492532|PMID:31571321 12076666 JMJD8 jumonji domain containing 8 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1601801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12076666 JMJD8 jumonji domain containing 8 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1601801 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12076666 JMJD8 jumonji domain containing 8 gene DOID:0111746 cerebellar ataxia type 48 ISO RGD:1601801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 48 PMID:24719489|PMID:25741868|PMID:28492532|PMID:30381368|PMID:31126790|PMID:31571321|PMID:32488064|PMID:34070858 12076666 JMJD8 jumonji domain containing 8 gene DOID:1826 epilepsy ISO RGD:1601801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12076666 JMJD8 jumonji domain containing 8 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1601801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12076666 JMJD8 jumonji domain containing 8 gene DOID:630 genetic disease ISO RGD:1601801 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12076681 SERPINE1 serpin family E member 1 gene DOID:0050830 peripheral artery disease ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) PMID:9201602|REF_RGD_ID:8547710 12076681 SERPINE1 serpin family E member 1 gene DOID:0050847 sleep apnea ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20508215|REF_RGD_ID:4144827 12076681 SERPINE1 serpin family E member 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:18330639|REF_RGD_ID:4144837 12076681 SERPINE1 serpin family E member 1 gene DOID:0050851 glomerulosclerosis ISO RGD:3249 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (rat) PMID:27129290|REF_RGD_ID:11073688 12076681 SERPINE1 serpin family E member 1 gene DOID:0050851 glomerulosclerosis treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:26999660|REF_RGD_ID:11073618 12076681 SERPINE1 serpin family E member 1 gene DOID:0050855 renal fibrosis ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:26869361|REF_RGD_ID:11073686 12076681 SERPINE1 serpin family E member 1 gene DOID:0050855 renal fibrosis treatment ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:27018336|REF_RGD_ID:11073616 12076681 SERPINE1 serpin family E member 1 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:69014 D RGD:9068941 20200609 RGD PMID:24999729|REF_RGD_ID:13208508 12076681 SERPINE1 serpin family E member 1 gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:oral mucosa (rat) PMID:15878520|REF_RGD_ID:8547730 12076681 SERPINE1 serpin family E member 1 gene DOID:0060181 ischemic colitis susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs1799768 (human) PMID:25656775|REF_RGD_ID:13208543 12076681 SERPINE1 serpin family E member 1 gene DOID:0060496 respiratory allergy ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24211530 12076681 SERPINE1 serpin family E member 1 gene DOID:0060903 thrombosis ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12677255|PMID:22352330 12076681 SERPINE1 serpin family E member 1 gene DOID:0060903 thrombosis ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;protein:increased expression:plasma (human) PMID:7495343|REF_RGD_ID:8547802 12076681 SERPINE1 serpin family E member 1 gene DOID:0060903 thrombosis no_association ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:deletion:promoter:g.-676_-674delG (human) PMID:12632020|REF_RGD_ID:7394765 12076681 SERPINE1 serpin family E member 1 gene DOID:0060903 thrombosis susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Lupus Nephritis;;DNA:insertion/deletion: : PMID:17469143|REF_RGD_ID:7175506 12076681 SERPINE1 serpin family E member 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:blood: PMID:25091195|REF_RGD_ID:13208545 12076681 SERPINE1 serpin family E member 1 gene DOID:0080599 Coronavirus infectious disease ISO RGD:11055 D RGD:9068941 20220825 MouseDO 12076681 SERPINE1 serpin family E member 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:17446839|REF_RGD_ID:8547894 12076681 SERPINE1 serpin family E member 1 gene DOID:0080998 acute necrotizing pancreatitis disease_progression ISO RGD:69014 D RGD:9068941 20200609 RGD PMID:15257107|REF_RGD_ID:13208542 12076681 SERPINE1 serpin family E member 1 gene DOID:0081120 Graves ophthalmopathy severity ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Graves Disease;protein:increased expression:tears (human) PMID:22385289|REF_RGD_ID:8547756 12076681 SERPINE1 serpin family E member 1 gene DOID:0081267 graft-versus-host disease Treatment ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:26414805|REF_RGD_ID:11343779 12076681 SERPINE1 serpin family E member 1 gene DOID:0111046 platelet-type bleeding disorder 10 severity ISO RGD:69014 D RGD:9068941 20200609 RGD PMID:18820218|REF_RGD_ID:13208509 12076681 SERPINE1 serpin family E member 1 gene DOID:10247 pleurisy susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Familial Mediterranean Fever;DNA: DNA:polymorphism:promoter:rs1799768 (human): PMID:23052617|REF_RGD_ID:13207414 12076681 SERPINE1 serpin family E member 1 gene DOID:10591 pre-eclampsia ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18679377 12076681 SERPINE1 serpin family E member 1 gene DOID:10591 pre-eclampsia ISO RGD:69014 D RGD:9068941 20200609 RGD mRNA:increased expression:blood: PMID:16952198|REF_RGD_ID:2292128 12076681 SERPINE1 serpin family E member 1 gene DOID:10763 hypertension ISO RGD:3249 D RGD:9068941 20200903 RGD mRNA:increased expression:kidney (SHRSP/A3N rat) PMID:11907153|REF_RGD_ID:28912746 12076681 SERPINE1 serpin family E member 1 gene DOID:10763 hypertension ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21051829|PMID:22352330 12076681 SERPINE1 serpin family E member 1 gene DOID:10763 hypertension ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:8355419|REF_RGD_ID:8547753 12076681 SERPINE1 serpin family E member 1 gene DOID:10763 hypertension treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:16645728|REF_RGD_ID:11081003 12076681 SERPINE1 serpin family E member 1 gene DOID:11054 urinary bladder cancer ISO RGD:69014 D RGD:9068941 20200609 RGD PMID:19010488|REF_RGD_ID:4144867 12076681 SERPINE1 serpin family E member 1 gene DOID:11247 disseminated intravascular coagulation ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased expression:blood (rat) PMID:23737601|REF_RGD_ID:10449432 12076681 SERPINE1 serpin family E member 1 gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:15869603|REF_RGD_ID:11080963 12076681 SERPINE1 serpin family E member 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Pneumonia, aspiration; protein:increased expression:Bronchoalveolar Lavage Fluid PMID:16284739|REF_RGD_ID:4144039 12076681 SERPINE1 serpin family E member 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17667242|REF_RGD_ID:4144037 12076681 SERPINE1 serpin family E member 1 gene DOID:11446 sciatic neuropathy treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:25967608|REF_RGD_ID:11075075 12076681 SERPINE1 serpin family E member 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:19375763|REF_RGD_ID:13208505 12076681 SERPINE1 serpin family E member 1 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Premature Birth;protein:increased expression:blood: PMID:25140773|REF_RGD_ID:13208551 12076681 SERPINE1 serpin family E member 1 gene DOID:11695 portal vein thrombosis susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: PMID:25987440|REF_RGD_ID:14696749 12076681 SERPINE1 serpin family E member 1 gene DOID:11713 diabetic angiopathy susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:deletion, haplotype:promoter:g.-676_-674delG (human) PMID:9844142|REF_RGD_ID:8547700 12076681 SERPINE1 serpin family E member 1 gene DOID:1184 nephrotic syndrome ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17513194 12076681 SERPINE1 serpin family E member 1 gene DOID:12361 Graves' disease ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:tears (human) PMID:22385289|REF_RGD_ID:8547756 12076681 SERPINE1 serpin family E member 1 gene DOID:12361 Graves' disease treatment ISO RGD:69014 D RGD:9068941 20200609 RGD PMID:11980614|REF_RGD_ID:8547709 12076681 SERPINE1 serpin family E member 1 gene DOID:12849 autistic disorder ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19360663 12076681 SERPINE1 serpin family E member 1 gene DOID:13025 retinopathy of prematurity ISO RGD:69014 D RGD:9068941 20200609 RGD human protein in a rat model PMID:14638747|REF_RGD_ID:8547810 12076681 SERPINE1 serpin family E member 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18682491 12076681 SERPINE1 serpin family E member 1 gene DOID:1312 focal segmental glomerulosclerosis treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:22303720|REF_RGD_ID:13208548 12076681 SERPINE1 serpin family E member 1 gene DOID:13207 proliferative diabetic retinopathy disease_progression ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:23304115|REF_RGD_ID:8699497 12076681 SERPINE1 serpin family E member 1 gene DOID:13207 proliferative diabetic retinopathy susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:deletion:promoter:g.-676_-674delG (human) PMID:16416371|REF_RGD_ID:8699494 12076681 SERPINE1 serpin family E member 1 gene DOID:13241 Behcet's disease ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12074830 12076681 SERPINE1 serpin family E member 1 gene DOID:13241 Behcet's disease ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:18341631|REF_RGD_ID:8547693 12076681 SERPINE1 serpin family E member 1 gene DOID:13580 cholestasis ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 12076681 SERPINE1 serpin family E member 1 gene DOID:13809 familial combined hyperlipidemia ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:18417194|REF_RGD_ID:13207412 12076681 SERPINE1 serpin family E member 1 gene DOID:13810 familial hypercholesterolemia ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19004443|REF_RGD_ID:13207334 12076681 SERPINE1 serpin family E member 1 gene DOID:1389 polyneuropathy ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) PMID:9201602|REF_RGD_ID:8547710 12076681 SERPINE1 serpin family E member 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:69014 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta: PMID:23814118|REF_RGD_ID:13208504 12076681 SERPINE1 serpin family E member 1 gene DOID:14018 alcoholic liver cirrhosis susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: PMID:25987440|REF_RGD_ID:14696749 12076681 SERPINE1 serpin family E member 1 gene DOID:14115 toxic shock syndrome susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Pneumonia; DNA:polymorphism:promoter:rs1799768 (human) PMID:20429897|REF_RGD_ID:4144828 12076681 SERPINE1 serpin family E member 1 gene DOID:1577 limited scleroderma ISO RGD:11055 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:skin: PMID:15730388|REF_RGD_ID:13208597 12076681 SERPINE1 serpin family E member 1 gene DOID:1612 breast cancer ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:breast, tumor (human) PMID:15448007|REF_RGD_ID:8547748 12076681 SERPINE1 serpin family E member 1 gene DOID:1686 glaucoma ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor (human) PMID:15710819|REF_RGD_ID:8547695 12076681 SERPINE1 serpin family E member 1 gene DOID:1727 retinal vein occlusion susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:deletion:promoter:g.-676_-674delG (human) PMID:16244763|REF_RGD_ID:8547742 12076681 SERPINE1 serpin family E member 1 gene DOID:1727 retinal vein occlusion susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:15213845|REF_RGD_ID:8547805 12076681 SERPINE1 serpin family E member 1 gene DOID:1936 atherosclerosis ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12677255 12076681 SERPINE1 serpin family E member 1 gene DOID:2213 hemorrhagic disease ISO RGD:69014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 12076681 SERPINE1 serpin family E member 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:26851971|REF_RGD_ID:11073692 12076681 SERPINE1 serpin family E member 1 gene DOID:2316 brain ischemia treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:27108052|REF_RGD_ID:11073613 12076681 SERPINE1 serpin family E member 1 gene DOID:2378 relapsing-remitting multiple sclerosis disease_progression ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:10739162|REF_RGD_ID:13208510 12076681 SERPINE1 serpin family E member 1 gene DOID:2841 asthma ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:plasma, lung PMID:18594148|REF_RGD_ID:4144836 12076681 SERPINE1 serpin family E member 1 gene DOID:2841 asthma no_association ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs1799768 (human) PMID:19604112|REF_RGD_ID:4144833 12076681 SERPINE1 serpin family E member 1 gene DOID:2841 asthma severity ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19703828|REF_RGD_ID:4144831 12076681 SERPINE1 serpin family E member 1 gene DOID:2841 asthma susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs1799768 (human) PMID:19063817|REF_RGD_ID:4144832 12076681 SERPINE1 serpin family E member 1 gene DOID:2921 glomerulonephritis treatment ISO RGD:69014 D RGD:9068941 20200609 RGD PMID:12897205|REF_RGD_ID:13208810 12076681 SERPINE1 serpin family E member 1 gene DOID:2987 familial Mediterranean fever susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs1799768 (human) PMID:22736074|REF_RGD_ID:13207415 12076681 SERPINE1 serpin family E member 1 gene DOID:3070 high grade glioma ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:14977830|REF_RGD_ID:13208546 12076681 SERPINE1 serpin family E member 1 gene DOID:3082 interstitial lung disease susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD Cryptogenic Organizing Pneumonia; DNA:polymorphism:promoter:rs1799768 (human) PMID:12765340|REF_RGD_ID:4144846 12076681 SERPINE1 serpin family E member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased expression:bronchus PMID:17651644|REF_RGD_ID:6484146 12076681 SERPINE1 serpin family E member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69014 D RGD:9068941 20200609 RGD PMID:11929177|REF_RGD_ID:4144041 12076681 SERPINE1 serpin family E member 1 gene DOID:3192 neurilemmoma ISO RGD:69014 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:schwann cell PMID:14963743|REF_RGD_ID:13208544 12076681 SERPINE1 serpin family E member 1 gene DOID:3355 fibrosarcoma severity ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:11059781|REF_RGD_ID:8547752 12076681 SERPINE1 serpin family E member 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:insertion:promoter: (human) PMID:9484978|REF_RGD_ID:1580190 12076681 SERPINE1 serpin family E member 1 gene DOID:3490 Noonan syndrome ISO RGD:69014 D RGD:9068941 20200609 RGD protein:decreased activity:blood: PMID:20686427|REF_RGD_ID:13207331 12076681 SERPINE1 serpin family E member 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:14512838|REF_RGD_ID:1580876 12076681 SERPINE1 serpin family E member 1 gene DOID:3526 cerebral infarction treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:25702149|REF_RGD_ID:11075081 12076681 SERPINE1 serpin family E member 1 gene DOID:3627 aortic aneurysm treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:9697825|REF_RGD_ID:8547863 12076681 SERPINE1 serpin family E member 1 gene DOID:3770 pulmonary fibrosis ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased activity:plasma PMID:16224526|REF_RGD_ID:4144842 12076681 SERPINE1 serpin family E member 1 gene DOID:3770 pulmonary fibrosis ISO RGD:69014 D RGD:9068941 20200609 RGD Idiopathic Pulmonary Fibrosis PMID:20061390|REF_RGD_ID:4143513 12076681 SERPINE1 serpin family E member 1 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:22659625|REF_RGD_ID:8547927 12076681 SERPINE1 serpin family E member 1 gene DOID:3891 placental insufficiency ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:26903689|REF_RGD_ID:11557202 12076681 SERPINE1 serpin family E member 1 gene DOID:409 liver disease ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29684222 12076681 SERPINE1 serpin family E member 1 gene DOID:418 systemic scleroderma ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:dermis,microvessel: PMID:26414805|REF_RGD_ID:11343779 12076681 SERPINE1 serpin family E member 1 gene DOID:4448 macular degeneration ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:17675241|REF_RGD_ID:8547755 12076681 SERPINE1 serpin family E member 1 gene DOID:4481 allergic rhinitis ISO RGD:11055 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal mucosa (mouse) PMID:21339035|REF_RGD_ID:8547809 12076681 SERPINE1 serpin family E member 1 gene DOID:4483 rhinitis susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs1799768 (human) PMID:19063817|REF_RGD_ID:4144832 12076681 SERPINE1 serpin family E member 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12076681 SERPINE1 serpin family E member 1 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: PMID:25987440|REF_RGD_ID:14696749 12076681 SERPINE1 serpin family E member 1 gene DOID:5199 ureteral obstruction ISO RGD:3249 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:11832778|REF_RGD_ID:8547912 12076681 SERPINE1 serpin family E member 1 gene DOID:5199 ureteral obstruction ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 12076681 SERPINE1 serpin family E member 1 gene DOID:5199 ureteral obstruction treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:12365557|REF_RGD_ID:8547941 12076681 SERPINE1 serpin family E member 1 gene DOID:552 pneumonia ISO RGD:69014 D RGD:9068941 20200609 RGD Pneumonia, Ventilator-Associated; protein:increased expression:Bronchoalveolar Lavage Fluid PMID:20473240|REF_RGD_ID:4143511 12076681 SERPINE1 serpin family E member 1 gene DOID:552 pneumonia disease_progression ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: PMID:19387177|REF_RGD_ID:4143525 12076681 SERPINE1 serpin family E member 1 gene DOID:5520 head and neck squamous cell carcinoma severity ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:oral mucosa (human) PMID:15878520|REF_RGD_ID:8547730 12076681 SERPINE1 serpin family E member 1 gene DOID:5844 myocardial infarction ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:16053971|REF_RGD_ID:8547882 12076681 SERPINE1 serpin family E member 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:deletion:promoter:g.-676_-674delG (human) PMID:12477941|REF_RGD_ID:1626626 12076681 SERPINE1 serpin family E member 1 gene DOID:5845 anterolateral myocardial infarction ISO RGD:11055 D RGD:9068941 20200609 RGD protein:decreased expression, decreased activity:heart: PMID:12615902|REF_RGD_ID:13208541 12076681 SERPINE1 serpin family E member 1 gene DOID:5845 anterolateral myocardial infarction disease_progression ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:12615902|REF_RGD_ID:13208541 12076681 SERPINE1 serpin family E member 1 gene DOID:6000 congestive heart failure ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 12076681 SERPINE1 serpin family E member 1 gene DOID:6039 uveal melanoma treatment ISO RGD:69014 D RGD:9068941 20200609 RGD human gene in mouse model PMID:9326241|REF_RGD_ID:8547806 12076681 SERPINE1 serpin family E member 1 gene DOID:630 genetic disease ISO RGD:69014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076681 SERPINE1 serpin family E member 1 gene DOID:6432 pulmonary hypertension ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:3'utr PMID:20300292|REF_RGD_ID:4143527 12076681 SERPINE1 serpin family E member 1 gene DOID:6432 pulmonary hypertension ISO RGD:69014 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:18337154|REF_RGD_ID:4143529 12076681 SERPINE1 serpin family E member 1 gene DOID:6432 pulmonary hypertension treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:27115515|REF_RGD_ID:11073610 12076681 SERPINE1 serpin family E member 1 gene DOID:74 hematopoietic system disease treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:20539915|REF_RGD_ID:11080965 12076681 SERPINE1 serpin family E member 1 gene DOID:767 muscular atrophy ISO RGD:3249 D RGD:9068941 20200609 RGD mRNA:increased expression:muscle PMID:19574431|REF_RGD_ID:4144861 12076681 SERPINE1 serpin family E member 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:20554458|REF_RGD_ID:4144856 12076681 SERPINE1 serpin family E member 1 gene DOID:783 end stage renal disease ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 12076681 SERPINE1 serpin family E member 1 gene DOID:783 end stage renal disease treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:26903149|REF_RGD_ID:11073683 12076681 SERPINE1 serpin family E member 1 gene DOID:7998 hyperthyroidism ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:14512089|REF_RGD_ID:8547758 12076681 SERPINE1 serpin family E member 1 gene DOID:8432 polycythemia ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Anoxia;mRNA:increased expression:heart right ventricle, heart left ventricle (rat) PMID:9405184|REF_RGD_ID:11080746 12076681 SERPINE1 serpin family E member 1 gene DOID:850 lung disease ISO RGD:69014 D RGD:9068941 20200609 RGD Acute Lung Injury; protein:increased expression:plasma PMID:19855955|REF_RGD_ID:4143514 12076681 SERPINE1 serpin family E member 1 gene DOID:850 lung disease ISO RGD:69014 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury; mRNA, protein:increased expression, increased activity:Bronchoalveolar Lavage Fluid, plasma PMID:20110652|REF_RGD_ID:4143512 12076681 SERPINE1 serpin family E member 1 gene DOID:850 lung disease severity ISO RGD:69014 D RGD:9068941 20200609 RGD acute lung injury; associated with Pulmonary Edema; protein:increased expression:lung, plasma PMID:12730079|REF_RGD_ID:4144040 12076681 SERPINE1 serpin family E member 1 gene DOID:863 nervous system disease ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 12076681 SERPINE1 serpin family E member 1 gene DOID:874 bacterial pneumonia severity ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:17032919|REF_RGD_ID:4144840 12076681 SERPINE1 serpin family E member 1 gene DOID:8947 diabetic retinopathy ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) PMID:9201602|REF_RGD_ID:8547710 12076681 SERPINE1 serpin family E member 1 gene DOID:8947 diabetic retinopathy no_association ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:deletion:promoter:g.-676_-674delG (human) PMID:12660488|REF_RGD_ID:8547699 12076681 SERPINE1 serpin family E member 1 gene DOID:8947 diabetic retinopathy no_association ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;repeat, snp:intron, 3' utr:g.7844(CA)1-6, ? (human) PMID:7974340|REF_RGD_ID:8547740 12076681 SERPINE1 serpin family E member 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:deletion:promoter:g.-676_-674delG (human) PMID:23281898|REF_RGD_ID:8547697 12076681 SERPINE1 serpin family E member 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snp, deletion:promoter:g.-844G>A, g.-676_-674delG (human) PMID:19419896|REF_RGD_ID:8547741 12076681 SERPINE1 serpin family E member 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12076681 SERPINE1 serpin family E member 1 gene DOID:9000367 Multiple Trauma ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:26632604|REF_RGD_ID:11073720 12076681 SERPINE1 serpin family E member 1 gene DOID:9000613 Hyaline Membrane Disease ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:8981909|REF_RGD_ID:4144850 12076681 SERPINE1 serpin family E member 1 gene DOID:9000656 Penetrating Wounds ISO RGD:3249 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal skin (rat) PMID:25794881|REF_RGD_ID:11075080 12076681 SERPINE1 serpin family E member 1 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Pneumonia, Pneumococcal;protein:increased expression:bronchoalveolar lavage fluid (rat) PMID:18768578|REF_RGD_ID:11081010 12076681 SERPINE1 serpin family E member 1 gene DOID:9000972 Fever susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Familial Mediterranean Fever;DNA: DNA:polymorphism:promoter:rs1799768 (human): PMID:23052617|REF_RGD_ID:13207414 12076681 SERPINE1 serpin family E member 1 gene DOID:9001542 Albuminuria ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) PMID:9201602|REF_RGD_ID:8547710 12076681 SERPINE1 serpin family E member 1 gene DOID:9001642 Intestinal Polyps treatment ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:18258607|REF_RGD_ID:13208598 12076681 SERPINE1 serpin family E member 1 gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:16221712|REF_RGD_ID:13208600 12076681 SERPINE1 serpin family E member 1 gene DOID:9002055 Chronic Allograft Nephropathy treatment ISO RGD:69014 D RGD:9068941 20200609 RGD PMID:18192922|REF_RGD_ID:13208601 12076681 SERPINE1 serpin family E member 1 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased activity:plasma (rat) PMID:12353078|REF_RGD_ID:8547901 12076681 SERPINE1 serpin family E member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:renal glomerulus, mesangial cell (rat) PMID:15322501|REF_RGD_ID:1580123 12076681 SERPINE1 serpin family E member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18682491 12076681 SERPINE1 serpin family E member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69014 D RGD:9068941 20200609 RGD associate with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) PMID:10809802|REF_RGD_ID:8547711 12076681 SERPINE1 serpin family E member 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:26712211|REF_RGD_ID:11073694 12076681 SERPINE1 serpin family E member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Pre-Eclampsia;protein:increased expression:plasma,placenta: PMID:8018914|REF_RGD_ID:13208595 12076681 SERPINE1 serpin family E member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16172807 12076681 SERPINE1 serpin family E member 1 gene DOID:9002488 Peritoneal Fibrosis ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:peritoneal fluid: PMID:25530106|REF_RGD_ID:13208550 12076681 SERPINE1 serpin family E member 1 gene DOID:9002514 Neointima ISO RGD:69014 D RGD:9068941 20200609 RGD human protein in rat model PMID:19574558|REF_RGD_ID:8547913 12076681 SERPINE1 serpin family E member 1 gene DOID:9002514 Neointima treatment ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:18091579|REF_RGD_ID:8547879 12076681 SERPINE1 serpin family E member 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:11055 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased activity:spinal cord, astrocyte: PMID:11733372|REF_RGD_ID:13208549 12076681 SERPINE1 serpin family E member 1 gene DOID:9002906 Multiple Organ Failure treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:16977483|REF_RGD_ID:11081009 12076681 SERPINE1 serpin family E member 1 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:11055 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina (mouse) PMID:19443721|REF_RGD_ID:8547749 12076681 SERPINE1 serpin family E member 1 gene DOID:9002909 Oxygen-Induced Retinopathy severity ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:19443721|REF_RGD_ID:8547749 12076681 SERPINE1 serpin family E member 1 gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:11133880|REF_RGD_ID:13208592 12076681 SERPINE1 serpin family E member 1 gene DOID:9003139 Cardiac Fibrosis ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA, protein:increased expression:heart left ventricle (rat) PMID:11961044|REF_RGD_ID:8547914 12076681 SERPINE1 serpin family E member 1 gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X PMID:15604340|REF_RGD_ID:8547923 12076681 SERPINE1 serpin family E member 1 gene DOID:9003204 Neovascularization, Pathologic ISO RGD:69014 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung; protein:increased expression:lung PMID:17207889|REF_RGD_ID:4144038 12076681 SERPINE1 serpin family E member 1 gene DOID:9003248 Central Serous Chorioretinopathy ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:10218712|REF_RGD_ID:8547738 12076681 SERPINE1 serpin family E member 1 gene DOID:9003248 Central Serous Chorioretinopathy ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:24446892|REF_RGD_ID:8547804 12076681 SERPINE1 serpin family E member 1 gene DOID:9003291 Aggressive Fibromatosis susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) PMID:17160433|REF_RGD_ID:13208596 12076681 SERPINE1 serpin family E member 1 gene DOID:9003379 Radiation Nephropathy treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:8995730|REF_RGD_ID:12880012 12076681 SERPINE1 serpin family E member 1 gene DOID:9003505 Venous Thromboembolism susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:deletion:promoter:g.-676_-674delG (human) PMID:17549286|REF_RGD_ID:8547715 12076681 SERPINE1 serpin family E member 1 gene DOID:9003646 Arterial Thrombosis ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:26857113|REF_RGD_ID:11073687 12076681 SERPINE1 serpin family E member 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:69014 D RGD:9068941 20200609 RGD PMID:19587273|REF_RGD_ID:2316117 12076681 SERPINE1 serpin family E member 1 gene DOID:9003758 Banti's Syndrome susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: PMID:18685811|REF_RGD_ID:10755472 12076681 SERPINE1 serpin family E member 1 gene DOID:9003817 Sudden Hearing Loss susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:deletion, haplotype:promoter:g.-676_-674delG (human) PMID:22672326|REF_RGD_ID:8547731 12076681 SERPINE1 serpin family E member 1 gene DOID:9003841 Acquired Protein C Deficiency ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Sepsis;protein:increased activity:lung (rat) PMID:18182560|REF_RGD_ID:11080962 12076681 SERPINE1 serpin family E member 1 gene DOID:9003871 Venous Thrombosis ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:9535178|REF_RGD_ID:8547875 12076681 SERPINE1 serpin family E member 1 gene DOID:9003871 Venous Thrombosis ISO RGD:3249 D RGD:9068941 20200609 RGD mRNA:increased expression:femoral vein (rat) PMID:26535698|REF_RGD_ID:11060966 12076681 SERPINE1 serpin family E member 1 gene DOID:9003871 Venous Thrombosis ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:deletion:promoter:g.-676_-674delG (human) PMID:14653439|REF_RGD_ID:1580132 12076681 SERPINE1 serpin family E member 1 gene DOID:9004484 Sepsis ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Pneumonia; protein:increased expression:plasma PMID:19753144|REF_RGD_ID:4144830 12076681 SERPINE1 serpin family E member 1 gene DOID:9004484 Sepsis treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:12000738|REF_RGD_ID:1598921 12076681 SERPINE1 serpin family E member 1 gene DOID:9004610 Acute Lung Injury ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic;mRNA:increased expression:lung (rat) PMID:10745022|REF_RGD_ID:11080967 12076681 SERPINE1 serpin family E member 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:25934465|REF_RGD_ID:11075078 12076681 SERPINE1 serpin family E member 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Sepsis PMID:18182560|REF_RGD_ID:11080962 12076681 SERPINE1 serpin family E member 1 gene DOID:9004702 Pregnancy Complications ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs1799768 (human) PMID:10909993|REF_RGD_ID:13208506 12076681 SERPINE1 serpin family E member 1 gene DOID:9004771 Vascular Remodeling treatment ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:26856544|REF_RGD_ID:11073690 12076681 SERPINE1 serpin family E member 1 gene DOID:9004874 Dermal Fibrosis treatment ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:26414805|REF_RGD_ID:11343779 12076681 SERPINE1 serpin family E member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:11055 D RGD:9068941 20200609 RGD protein:increased expression:heart (mouse) PMID:20630999|REF_RGD_ID:8547862 12076681 SERPINE1 serpin family E member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21757225 12076681 SERPINE1 serpin family E member 1 gene DOID:9005930 Endotoxemia ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:21396682|REF_RGD_ID:5147765 12076681 SERPINE1 serpin family E member 1 gene DOID:9005930 Endotoxemia treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:25396762|REF_RGD_ID:10449434 12076681 SERPINE1 serpin family E member 1 gene DOID:9005941 Rhinosinusitis ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa (human) PMID:21711960|REF_RGD_ID:6483796 12076681 SERPINE1 serpin family E member 1 gene DOID:9006014 Peritoneal Adhesions ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased expression:peritoneal fluid (rat) PMID:26419644|REF_RGD_ID:11073723 12076681 SERPINE1 serpin family E member 1 gene DOID:9006014 Peritoneal Adhesions treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:26790972|REF_RGD_ID:11073682 12076681 SERPINE1 serpin family E member 1 gene DOID:9006151 Choroidal Neovascularization, Experimental ISO RGD:11055 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (mouse) PMID:12766088|REF_RGD_ID:8547735 12076681 SERPINE1 serpin family E member 1 gene DOID:9006151 Choroidal Neovascularization, Experimental ISO RGD:69014 D RGD:9068941 20200609 RGD human gene in mouse model PMID:11292663|REF_RGD_ID:8547737 12076681 SERPINE1 serpin family E member 1 gene DOID:9006151 Choroidal Neovascularization, Experimental severity ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:12766088|REF_RGD_ID:8547735 12076681 SERPINE1 serpin family E member 1 gene DOID:9006151 Choroidal Neovascularization, Experimental treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:26610445|REF_RGD_ID:11073722 12076681 SERPINE1 serpin family E member 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:3249 D RGD:9068941 20200609 RGD mRNA:increased expression:carotid artery (rat) PMID:25617690|REF_RGD_ID:11075082 12076681 SERPINE1 serpin family E member 1 gene DOID:9006205 Animal Disease Models ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21051829 12076681 SERPINE1 serpin family E member 1 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:26084260|REF_RGD_ID:11073736 12076681 SERPINE1 serpin family E member 1 gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:11606484|REF_RGD_ID:11080966 12076681 SERPINE1 serpin family E member 1 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:3249 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25561792|REF_RGD_ID:11075083 12076681 SERPINE1 serpin family E member 1 gene DOID:9007096 Stroke ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11450024|REF_RGD_ID:4144847 12076681 SERPINE1 serpin family E member 1 gene DOID:9007188 Liver Neoplasms ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21159647 12076681 SERPINE1 serpin family E member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:69014 D RGD:9068941 20200609 RGD associated with precursor lymphoblastic lymphoma/leukemia;DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) PMID:23183238|REF_RGD_ID:14696750 12076681 SERPINE1 serpin family E member 1 gene DOID:9007692 Insulin Resistance ISO RGD:3249 D RGD:9068941 20200609 RGD mRNA:increased expression:white adipose tissue (rat) PMID:19776253|REF_RGD_ID:8547949 12076681 SERPINE1 serpin family E member 1 gene DOID:9007692 Insulin Resistance treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:26188590|REF_RGD_ID:11073726 12076681 SERPINE1 serpin family E member 1 gene DOID:9007752 Chronic Relapsing Experimental Autoimmune Encephalomyelitis ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:17983428|REF_RGD_ID:13208507 12076681 SERPINE1 serpin family E member 1 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased activity:plasma (rat) PMID:12717359|REF_RGD_ID:11081012 12076681 SERPINE1 serpin family E member 1 gene DOID:9007783 Vascular Depression treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:26286041|REF_RGD_ID:11073724 12076681 SERPINE1 serpin family E member 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:26958805|REF_RGD_ID:11073621 12076681 SERPINE1 serpin family E member 1 gene DOID:9008217 Hemorrhage ISO RGD:69014 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hemorrhage PMID:25741868 12076681 SERPINE1 serpin family E member 1 gene DOID:9008217 Hemorrhage treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:9263399|REF_RGD_ID:11080960 12076681 SERPINE1 serpin family E member 1 gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:69014 D RGD:7240710 20180130 OMIM 12076681 SERPINE1 serpin family E member 1 gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:69014 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY PMID:12856128|PMID:15650551|PMID:17656673|PMID:20549826|PMID:21486382|PMID:21681106|PMID:25741868|PMID:28492532|PMID:28771291 12076681 SERPINE1 serpin family E member 1 gene DOID:9008652 Postoperative Atrial Fibrillation ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:17846288|REF_RGD_ID:8547720 12076681 SERPINE1 serpin family E member 1 gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:69014 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Gastrointestinal hemorrhage PMID:25741868 12076681 SERPINE1 serpin family E member 1 gene DOID:9009023 Aortic Remodeling treatment ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Hypertension PMID:26693246|REF_RGD_ID:11073698 12076681 SERPINE1 serpin family E member 1 gene DOID:9120 amyloidosis susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Familial Mediterranean Fever;DNA: DNA:polymorphism:promoter:rs1799768 (human): PMID:23052617|REF_RGD_ID:13207414 12076681 SERPINE1 serpin family E member 1 gene DOID:9351 diabetes mellitus treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:10910004|REF_RGD_ID:2312393 12076681 SERPINE1 serpin family E member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3249 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:19706694|REF_RGD_ID:2316116 12076681 SERPINE1 serpin family E member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69014 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:8236167|REF_RGD_ID:8547723 12076681 SERPINE1 serpin family E member 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism: PMID:16855181|REF_RGD_ID:1624959 12076681 SERPINE1 serpin family E member 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:14614217|REF_RGD_ID:2312394 12076681 SERPINE1 serpin family E member 1 gene DOID:9452 fatty liver disease ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18641190|PMID:29684222 12076681 SERPINE1 serpin family E member 1 gene DOID:9970 obesity ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23819014 12076700 CD2AP CD2 associated protein gene DOID:0080600 COVID-19 ISO RGD:1347906 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12076700 CD2AP CD2 associated protein gene DOID:0112245 focal segmental glomerulosclerosis 3 ISO RGD:1347906 D RGD:7240710 20180307 OMIM 12076700 CD2AP CD2 associated protein gene DOID:0112245 focal segmental glomerulosclerosis 3 ISO RGD:1347906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 3, susceptibility to PMID:10514378|PMID:17713465|PMID:18443213|PMID:19131354|PMID:22971997|PMID:24033266|PMID:25741868|PMID:26346198|PMID:28492532|PMID:30406062|PMID:30612599|PMID:33712733 12076700 CD2AP CD2 associated protein gene DOID:10283 prostate cancer ISO RGD:1347906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:28492532 12076700 CD2AP CD2 associated protein gene DOID:10652 Alzheimer's disease ISO RGD:1347906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21460840|PMID:21460841|PMID:30320580 12076700 CD2AP CD2 associated protein gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1347906 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868|PMID:28492532 12076700 CD2AP CD2 associated protein gene DOID:557 kidney disease ISO RGD:1347906 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 12076700 CD2AP CD2 associated protein gene DOID:630 genetic disease ISO RGD:1347906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12076700 CD2AP CD2 associated protein gene DOID:783 end stage renal disease ISO RGD:1550249 D RGD:9068941 20220825 MouseDO 12076700 CD2AP CD2 associated protein gene DOID:9004009 Reperfusion Injury ISO RGD:727803 D RGD:9068941 20200609 RGD PMID:16088078|REF_RGD_ID:1581187 12076722 SH3BGRL2 SH3 domain binding glutamate rich protein like 2 gene DOID:0110215 Leber congenital amaurosis 5 ISO RGD:1314135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 5 PMID:10631161|PMID:16123401|PMID:17546029 12076722 SH3BGRL2 SH3 domain binding glutamate rich protein like 2 gene DOID:630 genetic disease ISO RGD:1314135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076722 SH3BGRL2 SH3 domain binding glutamate rich protein like 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1314135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12076722 SH3BGRL2 SH3 domain binding glutamate rich protein like 2 gene DOID:9269 maple syrup urine disease ISO RGD:1314135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:16786533|PMID:22593002|PMID:24571530|PMID:28492532 12076730 ATAD2B ATPase family AAA domain containing 2B gene DOID:630 genetic disease ISO RGD:1604011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076764 ANKRD35 ankyrin repeat domain 35 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1352290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 12076764 ANKRD35 ankyrin repeat domain 35 gene DOID:1540 parathyroid carcinoma ISO RGD:1352290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12076764 ANKRD35 ankyrin repeat domain 35 gene DOID:5419 schizophrenia ISO RGD:1352290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12076764 ANKRD35 ankyrin repeat domain 35 gene DOID:630 genetic disease ISO RGD:1352290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076764 ANKRD35 ankyrin repeat domain 35 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12076782 GSAP gamma-secretase activating protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12076782 GSAP gamma-secretase activating protein gene DOID:630 genetic disease ISO RGD:1604809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076782 GSAP gamma-secretase activating protein gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1604809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12076840 KIF15 kinesin family member 15 gene DOID:0080600 COVID-19 ISO RGD:1351410 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12076840 KIF15 kinesin family member 15 gene DOID:2986 IgA glomerulonephritis ISO RGD:1351410 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 12076840 KIF15 kinesin family member 15 gene DOID:3770 pulmonary fibrosis ISO RGD:1351410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:35417304 12076840 KIF15 kinesin family member 15 gene DOID:630 genetic disease ISO RGD:1351410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076840 KIF15 kinesin family member 15 gene DOID:684 hepatocellular carcinoma ISO RGD:1351410 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12076840 KIF15 kinesin family member 15 gene DOID:9000152 Braddock-Carey Syndrome 2 ISO RGD:1351410 D RGD:7240710 20220810 OMIM 12076840 KIF15 kinesin family member 15 gene DOID:9000152 Braddock-Carey Syndrome 2 ISO RGD:1351410 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Braddock-Carey syndrome 2 PMID:28150392 12076881 ALG5 ALG5 dolichyl-phosphate beta-glucosyltransferase gene DOID:630 genetic disease ISO RGD:1318934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076881 ALG5 ALG5 dolichyl-phosphate beta-glucosyltransferase gene DOID:9006011 Polycystic Kidney Disease 7 ISO RGD:1318934 D RGD:7240710 20221012 OMIM 12076881 ALG5 ALG5 dolichyl-phosphate beta-glucosyltransferase gene DOID:9006011 Polycystic Kidney Disease 7 ISO RGD:1318934 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 7 PMID:35896117 12076898 TFB2M transcription factor B2, mitochondrial gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1316077 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12076898 TFB2M transcription factor B2, mitochondrial gene DOID:1540 parathyroid carcinoma ISO RGD:1316077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12076898 TFB2M transcription factor B2, mitochondrial gene DOID:630 genetic disease ISO RGD:1316077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076898 TFB2M transcription factor B2, mitochondrial gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12076910 FLNA filamin A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354471 D RGD:7240710 20180130 OMIM 12076910 FLNA filamin A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 PMID:10982489|PMID:10982965|PMID:11532987|PMID:11914408|PMID:12410386|PMID:12612583|PMID:14988809|PMID:15194946|PMID:15523633|PMID:15668422|PMID:15864382|PMID:15917206|PMID:15994863|PMID:16199547|PMID:16299064|PMID:16303888|PMID:16417552|PMID:16596676|PMID:16684786|PMID:16822260|PMID:16835913|PMID:17152064|PMID:17264970|PMID:17546640|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:18854860|PMID:19773341|PMID:20014127|PMID:20186808|PMID:20598277|PMID:20730588|PMID:20844545|PMID:21520333|PMID:21836662|PMID:21960593|PMID:22366253|PMID:22522697|PMID:23873601|PMID:24088041|PMID:24098143|PMID:25167861|PMID:25326637|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:25817843|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:27457812|PMID:27724990|PMID:28133863|PMID:28425981|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28798025|PMID:29024177|PMID:29168297|PMID:29706646|PMID:29738522|PMID:30089473|PMID:30115950|PMID:30561107|PMID:30986657|PMID:31064749|PMID:32738303|PMID:33448881|PMID:3658675|PMID:8290091|PMID:9071288|PMID:9536098|PMID:9800904|PMID:9883725 12076910 FLNA filamin A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354471 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular | ClinVar Annotator: match by term: Periventricular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 PMID:10480214|PMID:10982489|PMID:10982965|PMID:11532987|PMID:11748843|PMID:11914408|PMID:11968085|PMID:12410386|PMID:12612583|PMID:14988809|PMID:15194946|PMID:15523633|PMID:15668422|PMID:15689435|PMID:15864382|PMID:15917206|PMID:15994863|PMID:16080119|PMID:16199547|PMID:16299064|PMID:16303888|PMID:16417552|PMID:16427346|PMID:16538226|PMID:16596676|PMID:16601897|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17152064|PMID:17264970|PMID:17546640|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:18854860|PMID:19377476|PMID:19396829|PMID:19773341|PMID:19846429|PMID:20014127|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20871226|PMID:21520333|PMID:21620354|PMID:21821884|PMID:21836662|PMID:21960593|PMID:22281021|PMID:22366253|PMID:22382802|PMID:22522697|PMID:23032111|PMID:23409742|PMID:23660394|PMID:23873601|PMID:24088041|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25167861|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:25817843|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:27457812|PMID:27724990|PMID:28133863|PMID:28411558|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28798025|PMID:28898549|PMID:29024177|PMID:29168297|PMID:29334594|PMID:29650765|PMID:29706646|PMID:29720203|PMID:29738522|PMID:30089473|PMID:30115950|PMID:30143558|PMID:30293987|PMID:30561107|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31625567|PMID:31919883|PMID:32410215|PMID:32738303|PMID:33077954|PMID:33448881|PMID:33994118|PMID:3658675|PMID:8290091|PMID:9071288|PMID:9384614|PMID:9536098|PMID:9800904|PMID:9883725 12076910 FLNA filamin A gene DOID:0050476 Barth syndrome ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12076910 FLNA filamin A gene DOID:0050645 arterial tortuosity syndrome ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arterial tortuosity PMID:25741868 12076910 FLNA filamin A gene DOID:0050800 creatine transporter deficiency ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 12076910 FLNA filamin A gene DOID:0060180 colitis ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colitis PMID:25741868|PMID:28492532|PMID:30755392 12076910 FLNA filamin A gene DOID:0060249 scoliosis ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:28492532 12076910 FLNA filamin A gene DOID:0060327 omphalocele ISO RGD:1354471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Omphalocoele PMID:25741868 12076910 FLNA filamin A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12076910 FLNA filamin A gene DOID:0060889 prune belly syndrome ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prune belly syndrome 12076910 FLNA filamin A gene DOID:0080681 X-linked chronic idiopathic intestinal pseudo-obstruction ISO RGD:1354471 D RGD:7240710 20180130 OMIM 12076910 FLNA filamin A gene DOID:0080681 X-linked chronic idiopathic intestinal pseudo-obstruction ISO RGD:1354471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CIIP X-linked | ClinVar Annotator: match by term: Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked PMID:10982489|PMID:12612583|PMID:16417552|PMID:16822260|PMID:18414213|PMID:22522697|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30089473|PMID:30986657 12076910 FLNA filamin A gene DOID:0111765 X-linked cardiac valvular dysplasia ISO RGD:1354471 D RGD:7240710 20180130 OMIM 12076910 FLNA filamin A gene DOID:0111765 X-linked cardiac valvular dysplasia ISO RGD:1354471 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked | ClinVar Annotator: match by term: Myxomatous valvular dystrophy, X-linked PMID:10982489|PMID:12612583|PMID:16299064|PMID:16417552|PMID:16822260|PMID:16875750|PMID:17190868|PMID:17576681|PMID:17632775|PMID:18414213|PMID:1854572|PMID:20301567|PMID:22522697|PMID:240645|PMID:24088041|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27739212|PMID:28492532|PMID:29168297|PMID:29237676|PMID:30089473|PMID:30986657|PMID:32738303|PMID:8230166|PMID:9497244|PMID:9536098 12076910 FLNA filamin A gene DOID:0111782 otopalatodigital syndrome spectrum disorder ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Otopalatodigital syndrome spectrum disorder PMID:15654694|PMID:16596676 12076910 FLNA filamin A gene DOID:0111783 otopalatodigital syndrome type 1 ISO RGD:1354471 D RGD:7240710 20180130 OMIM 12076910 FLNA filamin A gene DOID:0111783 otopalatodigital syndrome type 1 ISO RGD:1354471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OPD syndrome 1 | ClinVar Annotator: match by term: Oto-palato-digital syndrome, type I | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type I PMID:10982489|PMID:11704759|PMID:11992261|PMID:12612583|PMID:15194946|PMID:15917206|PMID:15940695|PMID:16417552|PMID:16538226|PMID:16822260|PMID:17264970|PMID:18414213|PMID:20301567|PMID:20979190|PMID:22465605|PMID:22522697|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29300383|PMID:30143558|PMID:30986657|PMID:31942422|PMID:6019437 12076910 FLNA filamin A gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1354471 D RGD:7240710 20180130 OMIM 12076910 FLNA filamin A gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Andre syndrome | ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar Annotator: match by term: Faciopalatoosseous syndrome | ClinVar Annotator: match by term: OPD 2 syndrome | ClinVar Annotator: match by term: OPD II SYNDROME | ClinVar Annotator: match by term: Oto-palato-digital syndrome type 2 | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:10982489|PMID:11532987|PMID:12410386|PMID:12612583|PMID:15194946|PMID:15523633|PMID:15689435|PMID:15917206|PMID:16080119|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17264970|PMID:17431908|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:19773341|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20844545|PMID:21620354|PMID:21836662|PMID:21960593|PMID:22522697|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26404489|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:30089473|PMID:30143558|PMID:30755392|PMID:30986657|PMID:31064749|PMID:32410215|PMID:32738303|PMID:33448881|PMID:9071288|PMID:9536098 12076910 FLNA filamin A gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:10982489|PMID:11532987|PMID:12410386|PMID:12612583|PMID:15194946|PMID:15523633|PMID:15689435|PMID:15917206|PMID:16080119|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17264970|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:19773341|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20844545|PMID:21620354|PMID:21836662|PMID:21960593|PMID:22522697|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26404489|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:30089473|PMID:30143558|PMID:30755392|PMID:30986657|PMID:31064749|PMID:32410215|PMID:32738303|PMID:33448881|PMID:9071288|PMID:9536098 12076910 FLNA filamin A gene DOID:0111786 frontometaphyseal dysplasia 1 ISO RGD:1354471 D RGD:7240710 20180130 OMIM 12076910 FLNA filamin A gene DOID:0111786 frontometaphyseal dysplasia 1 ISO RGD:1354471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FRONTOMETAPHYSEAL DYSPLASIA 1 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia 1 PMID:10982489|PMID:12612583|PMID:15523633|PMID:15917206|PMID:16417552|PMID:16596676|PMID:16822260|PMID:16835913|PMID:18414213|PMID:22522697|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30986657|PMID:9071288 12076910 FLNA filamin A gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1354471 D RGD:7240710 20200408 OMIM 12076910 FLNA filamin A gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Melnick-Needles osteodysplasty | ClinVar Annotator: match by term: Melnick-Needles syndrome | ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:10982489|PMID:11532987|PMID:12410386|PMID:12612583|PMID:15194946|PMID:15523633|PMID:15689435|PMID:15917206|PMID:16080119|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17264970|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:19773341|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20844545|PMID:21620354|PMID:21836662|PMID:21960593|PMID:22522697|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26404489|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:30089473|PMID:30143558|PMID:30755392|PMID:30986657|PMID:31064749|PMID:32410215|PMID:32738303|PMID:33448881|PMID:9071288|PMID:9536098 12076910 FLNA filamin A gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 12076910 FLNA filamin A gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 12076910 FLNA filamin A gene DOID:0112003 immunodeficiency 33 ISO RGD:1354471 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12076910 FLNA filamin A gene DOID:0112149 terminal osseous dysplasia ISO RGD:1354471 D RGD:7240710 20180130 OMIM 12076910 FLNA filamin A gene DOID:0112149 terminal osseous dysplasia ISO RGD:1354471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Terminal osseous dysplasia | ClinVar Annotator: match by term: Terminal osseous dysplasia-pigmentary defects syndrome PMID:10982489|PMID:10982965|PMID:12612583|PMID:15864382|PMID:16417552|PMID:16822260|PMID:17152064|PMID:17576681|PMID:18414213|PMID:20301567|PMID:20598277|PMID:22522697|PMID:25614868|PMID:25741868|PMID:26059211|PMID:26061098|PMID:26467025|PMID:28492532|PMID:30561107|PMID:30986657|PMID:31919883|PMID:9536098|PMID:9800904 12076910 FLNA filamin A gene DOID:10588 adrenoleukodystrophy ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12076910 FLNA filamin A gene DOID:1059 intellectual disability ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:28492532 12076910 FLNA filamin A gene DOID:10907 microcephaly ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12076910 FLNA filamin A gene DOID:11111 hydronephrosis ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydronephrosis PMID:28492532 12076910 FLNA filamin A gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23169761|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12076910 FLNA filamin A gene DOID:11830 myopia ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Myopia PMID:28492532 12076910 FLNA filamin A gene DOID:12849 autistic disorder ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12076910 FLNA filamin A gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868 12076910 FLNA filamin A gene DOID:13515 tuberous sclerosis ISO RGD:1354471 D RGD:9068941 20200609 RGD protein:increased expression:prefrontal cortex (human) PMID:25277454|REF_RGD_ID:11565117 12076910 FLNA filamin A gene DOID:13620 patent foramen ovale ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Patent foramen ovale PMID:25741868 12076910 FLNA filamin A gene DOID:13628 favism ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12076910 FLNA filamin A gene DOID:14004 thoracic aortic aneurysm ISO RGD:1354471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11704759|PMID:11992261|PMID:12612583|PMID:15917206|PMID:16299064|PMID:16538226|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19377476|PMID:20979190|PMID:21320118|PMID:22076441|PMID:22465605|PMID:22740120|PMID:23032111|PMID:23487190|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:30089473|PMID:30143558|PMID:30755392|PMID:30986657|PMID:31942422|PMID:32410215|PMID:32738303|PMID:33448881|PMID:6019437|PMID:9536098 12076910 FLNA filamin A gene DOID:14323 Marfan syndrome ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:28492532 12076910 FLNA filamin A gene DOID:14711 FG syndrome ISO RGD:1354471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632775 12076910 FLNA filamin A gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type 12076910 FLNA filamin A gene DOID:1588 thrombocytopenia ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:26467025|PMID:28492532|PMID:30755392 12076910 FLNA filamin A gene DOID:1657 ventricular septal defect ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:28492532 12076910 FLNA filamin A gene DOID:1682 congenital heart disease ISO RGD:1354471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 12076910 FLNA filamin A gene DOID:1826 epilepsy ISO RGD:1354471 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure 12076910 FLNA filamin A gene DOID:1923 disorder of sexual development ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ambiguous genitalia | ClinVar Annotator: match by term: Disorder of sexual differentiation PMID:25741868|PMID:28492532 12076910 FLNA filamin A gene DOID:2213 hemorrhagic disease ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:26467025|PMID:28492532 12076910 FLNA filamin A gene DOID:2256 osteochondrodysplasia ISO RGD:1354471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12612583 12076910 FLNA filamin A gene DOID:2256 osteochondrodysplasia ISO RGD:1354471 D RGD:9068941 20200609 RGD Melnick-Needles syndrome;DNA:missense mutations:cds:p.A1188T, p.S1199L (human) PMID:12612583|REF_RGD_ID:1598954 12076910 FLNA filamin A gene DOID:2256 osteochondrodysplasia ISO RGD:1354471 D RGD:9068941 20200609 RGD associated with Periventricular Nodular Heterotopia;DNA:missense mutation:cds:p.G208R (human) PMID:25755106|REF_RGD_ID:11565455 12076910 FLNA filamin A gene DOID:2340 craniosynostosis ISO RGD:1354471 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:25873011|REF_RGD_ID:11531800 12076910 FLNA filamin A gene DOID:2729 dyskeratosis congenita ISO RGD:1354471 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12076910 FLNA filamin A gene DOID:3627 aortic aneurysm ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic dilatation PMID:18414213|PMID:21836662|PMID:25741868|PMID:26467025|PMID:28492532 12076910 FLNA filamin A gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:28492532 12076910 FLNA filamin A gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12076910 FLNA filamin A gene DOID:607 paraplegia ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12076910 FLNA filamin A gene DOID:630 genetic disease ISO RGD:1354471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26404489|PMID:28492532|PMID:30293987|PMID:30391507|PMID:31625567|PMID:33077954|PMID:34863227 12076910 FLNA filamin A gene DOID:65 connective tissue disease ISO RGD:1354471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:18414213|PMID:18805826|PMID:21520333|PMID:21836662|PMID:25741868|PMID:26404489|PMID:26467025|PMID:28492532 12076910 FLNA filamin A gene DOID:674 cleft palate ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:11704759|PMID:11992261|PMID:12612583|PMID:15917206|PMID:16538226|PMID:20979190|PMID:22465605|PMID:25741868|PMID:31942422|PMID:6019437 12076910 FLNA filamin A gene DOID:687 hepatoblastoma ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 12076910 FLNA filamin A gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1354471 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency PMID:18414213|PMID:25677497|PMID:25741868|PMID:28492532 12076910 FLNA filamin A gene DOID:850 lung disease ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chronic lung disease PMID:18414213|PMID:25741868|PMID:28492532 12076910 FLNA filamin A gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1354471 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 12076910 FLNA filamin A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12076910 FLNA filamin A gene DOID:9001665 Aneurysm ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aneurysm PMID:25741868 12076910 FLNA filamin A gene DOID:9002387 FG Syndrome 2 ISO RGD:1354471 D RGD:7240710 20200226 OMIM 12076910 FLNA filamin A gene DOID:9002387 FG Syndrome 2 ISO RGD:1354471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: FG syndrome 2 PMID:10982489|PMID:12612583|PMID:16299064|PMID:16417552|PMID:16822260|PMID:17632775|PMID:18414213|PMID:22522697|PMID:25167861|PMID:25741868|PMID:26467025|PMID:28133863|PMID:28492532|PMID:29720203|PMID:30089473|PMID:30986657 12076910 FLNA filamin A gene DOID:9002720 Splenomegaly ISO RGD:1354471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12076910 FLNA filamin A gene DOID:9002914 Familial Sudden Death ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death in childhood PMID:25741868|PMID:28492532 12076910 FLNA filamin A gene DOID:9003646 Arterial Thrombosis ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arterial thrombosis PMID:25741868 12076910 FLNA filamin A gene DOID:9004240 Phyllodes Tumor ISO RGD:1354471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 12076910 FLNA filamin A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12076910 FLNA filamin A gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT | ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant | ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 PMID:10982489|PMID:11532987|PMID:12410386|PMID:12612583|PMID:15194946|PMID:15523633|PMID:15689435|PMID:15917206|PMID:16080119|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17264970|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:19773341|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20844545|PMID:21620354|PMID:21836662|PMID:21960593|PMID:22522697|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26404489|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:30089473|PMID:30143558|PMID:30755392|PMID:30986657|PMID:31064749|PMID:32410215|PMID:32738303|PMID:33448881|PMID:9071288|PMID:9536098 12076910 FLNA filamin A gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:10982489|PMID:11532987|PMID:12410386|PMID:12612583|PMID:15194946|PMID:15523633|PMID:15689435|PMID:15917206|PMID:16080119|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17264970|PMID:17431908|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:19773341|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20844545|PMID:21620354|PMID:21836662|PMID:21960593|PMID:22522697|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26404489|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:30089473|PMID:30143558|PMID:30755392|PMID:30986657|PMID:31064749|PMID:32410215|PMID:32738303|PMID:33448881|PMID:9071288|PMID:9536098 12076910 FLNA filamin A gene DOID:9005603 Muscle Hypotonia ISO RGD:1354471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:25741868 12076910 FLNA filamin A gene DOID:9007096 Stroke ISO RGD:1354471 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28492532 12076910 FLNA filamin A gene DOID:9007661 Dwarfism ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Short stature PMID:11704759|PMID:11992261|PMID:12612583|PMID:15917206|PMID:16538226|PMID:20979190|PMID:22465605|PMID:25741868|PMID:31942422|PMID:6019437 12076910 FLNA filamin A gene DOID:9008086 Developmental Disabilities ISO RGD:1354471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay PMID:16684786|PMID:20730588|PMID:25741868|PMID:26471271|PMID:28492532|PMID:36937954 12076910 FLNA filamin A gene DOID:9008939 Breast Neoplasms ISO RGD:1354471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 12076910 FLNA filamin A gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hematochezia PMID:25741868|PMID:28492532|PMID:30755392 12076910 FLNA filamin A gene DOID:9009005 Familial Thoracic Aortic Aneurysm 2 ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 PMID:28492532 12076910 FLNA filamin A gene DOID:988 mitral valve prolapse ISO RGD:1354471 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G288R (human) PMID:24243761|REF_RGD_ID:11565119 12076962 TCF7 transcription factor 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314197 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12076962 TCF7 transcription factor 7 gene DOID:10283 prostate cancer severity ISO RGD:1314197 D RGD:9068941 20200609 RGD PMID:28220803|REF_RGD_ID:13506820 12076962 TCF7 transcription factor 7 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1314197 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 12076962 TCF7 transcription factor 7 gene DOID:630 genetic disease ISO RGD:1314197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12076962 TCF7 transcription factor 7 gene DOID:8778 Crohn's disease ISO RGD:1314197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24994854 12076962 TCF7 transcription factor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12076962 TCF7 transcription factor 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314197 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12076962 TCF7 transcription factor 7 gene DOID:9074 systemic lupus erythematosus ISO RGD:1314197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 12076975 TRPS1 transcriptional repressor GATA binding 1 gene DOID:0050581 brachydactyly ISO RGD:1323571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:11112658|PMID:18946009|PMID:24502542|PMID:25741868|PMID:25792522|PMID:28468609|PMID:28492532|PMID:30541476 12076975 TRPS1 transcriptional repressor GATA binding 1 gene DOID:0080006 bone development disease ISO RGD:1323571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19759027 12076975 TRPS1 transcriptional repressor GATA binding 1 gene DOID:0080205 CAKUT ISO RGD:1323571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:11112658|PMID:11950061|PMID:18946009|PMID:24502542|PMID:25792522|PMID:28492532|PMID:30143558|PMID:30541476 12076975 TRPS1 transcriptional repressor GATA binding 1 gene DOID:0080376 trichorhinophalangeal syndrome type III ISO RGD:1323571 D RGD:7240710 20180130 OMIM 12076975 TRPS1 transcriptional repressor GATA binding 1 gene DOID:0080376 trichorhinophalangeal syndrome type III ISO RGD:1323571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III PMID:10615131|PMID:11112658|PMID:11807863|PMID:11950061|PMID:14560312|PMID:15367484|PMID:16199547|PMID:17576681|PMID:17854380|PMID:18946009|PMID:19694891|PMID:20394624|PMID:21850686|PMID:22964620|PMID:23293878|PMID:23451857|PMID:23572024|PMID:23621477|PMID:23691375|PMID:24357341|PMID:24502542|PMID:24945424|PMID:25741868|PMID:25792522|PMID:26113321|PMID:27826100|PMID:28050602|PMID:28170084|PMID:28244134|PMID:28468609|PMID:28492532|PMID:29499646|PMID:30143558|PMID:30458885|PMID:30541476|PMID:30914275|PMID:31884116|PMID:32844440|PMID:9536098 12076975 TRPS1 transcriptional repressor GATA binding 1 gene DOID:10907 microcephaly ISO RGD:1323571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12076975 TRPS1 transcriptional repressor GATA binding 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1323571 D RGD:7240710 20180130 OMIM 12076975 TRPS1 transcriptional repressor GATA binding 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1323571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:10615131|PMID:11112658|PMID:11359471|PMID:11807863|PMID:11950061|PMID:14560312|PMID:17854380|PMID:18946009|PMID:19694891|PMID:22964620|PMID:23451857|PMID:23621477|PMID:24357341|PMID:24502542|PMID:25741868|PMID:25792522|PMID:26380986|PMID:27826100|PMID:28050602|PMID:28170084|PMID:28244134|PMID:28468609|PMID:28492532|PMID:30143558|PMID:30541476|PMID:30914275|PMID:31884116 12076975 TRPS1 transcriptional repressor GATA binding 1 gene DOID:2256 osteochondrodysplasia ISO RGD:1323571 D RGD:9068941 20200609 RGD trichorhinophalangeal syndrome type I, OMIM:190350 PMID:10615131|REF_RGD_ID:1599670 12076975 TRPS1 transcriptional repressor GATA binding 1 gene DOID:305 carcinoma ISO RGD:1323571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12076975 TRPS1 transcriptional repressor GATA binding 1 gene DOID:4998 trichorhinophalangeal syndrome type II ISO RGD:1323571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Langer-Giedion syndrome PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532 12076975 TRPS1 transcriptional repressor GATA binding 1 gene DOID:630 genetic disease ISO RGD:1323571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25792522|PMID:26113321|PMID:28004029|PMID:28492532 12076975 TRPS1 transcriptional repressor GATA binding 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1323571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12076975 TRPS1 transcriptional repressor GATA binding 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1323571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12076975 TRPS1 transcriptional repressor GATA binding 1 gene DOID:9005517 Trichorhinophalangeal Syndrome ISO RGD:1323571 D RGD:8554872 20230103 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal syndrome | ClinVar Annotator: match by term: Trichorhinophalangeal syndrome type I or III PMID:25333908|PMID:25741868|PMID:28492532|PMID:29095814 12076975 TRPS1 transcriptional repressor GATA binding 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1323571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome 12076975 TRPS1 transcriptional repressor GATA binding 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1323571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11708946|PMID:19759027 12076998 HYI hydroxypyruvate isomerase (putative) gene DOID:0080413 developmental and epileptic encephalopathy 18 ISO RGD:1601737 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 18 PMID:25741868 12076998 HYI hydroxypyruvate isomerase (putative) gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1601737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12076998 HYI hydroxypyruvate isomerase (putative) gene DOID:630 genetic disease ISO RGD:1601737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077010 NAP1L4 nucleosome assembly protein 1 like 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1313394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12077010 NAP1L4 nucleosome assembly protein 1 like 4 gene DOID:0080773 delta beta-thalassemia ISO RGD:1313394 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12077010 NAP1L4 nucleosome assembly protein 1 like 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1313394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12077010 NAP1L4 nucleosome assembly protein 1 like 4 gene DOID:630 genetic disease ISO RGD:1313394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077010 NAP1L4 nucleosome assembly protein 1 like 4 gene DOID:9002669 Hypoxia ISO RGD:1305391 D RGD:9068941 20200609 RGD protein:decreased dimerization:hippocampus (rat) PMID:24893663|REF_RGD_ID:9590077 12077036 TNFRSF11A TNF receptor superfamily member 11a gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1321639 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12077036 TNFRSF11A TNF receptor superfamily member 11a gene DOID:0080006 bone development disease ISO RGD:1321639 D RGD:9068941 20200609 RGD familial expansile osteolysis, OMIM:174810 PMID:10615125|REF_RGD_ID:1599463 12077036 TNFRSF11A TNF receptor superfamily member 11a gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1321639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 12077036 TNFRSF11A TNF receptor superfamily member 11a gene DOID:0110946 autosomal recessive osteopetrosis 7 ISO RGD:1321639 D RGD:7240710 20180130 OMIM 12077036 TNFRSF11A TNF receptor superfamily member 11a gene DOID:0110946 autosomal recessive osteopetrosis 7 ISO RGD:1321639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7 PMID:15231021|PMID:17576681|PMID:18606301|PMID:19940926|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 12077036 TNFRSF11A TNF receptor superfamily member 11a gene DOID:0111542 familial expansile osteolysis ISO RGD:1321639 D RGD:7240710 20180130 OMIM 12077036 TNFRSF11A TNF receptor superfamily member 11a gene DOID:0111542 familial expansile osteolysis ISO RGD:1321639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial expansile osteolysis PMID:10615125|PMID:12362049|PMID:12568416|PMID:17447113|PMID:21472776|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7911698 12077036 TNFRSF11A TNF receptor superfamily member 11a gene DOID:10534 stomach cancer severity ISO RGD:1321639 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 12077036 TNFRSF11A TNF receptor superfamily member 11a gene DOID:11476 osteoporosis ISO RGD:1321639 D RGD:9068941 20200609 RGD PMID:17002564|REF_RGD_ID:1625350 12077036 TNFRSF11A TNF receptor superfamily member 11a gene DOID:13533 osteopetrosis ISO RGD:1321639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteopetrosis PMID:24033266|PMID:25741868|PMID:28492532 12077036 TNFRSF11A TNF receptor superfamily member 11a gene DOID:4254 osteosclerosis ISO RGD:1321639 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:24033266|PMID:25741868|PMID:28492532 12077036 TNFRSF11A TNF receptor superfamily member 11a gene DOID:5408 Paget's disease of bone ISO RGD:1321639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone Paget disease | ClinVar Annotator: match by term: Paget disease of bone PMID:24033266|PMID:25741868|PMID:28492532 12077036 TNFRSF11A TNF receptor superfamily member 11a gene DOID:630 genetic disease ISO RGD:1321639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12077036 TNFRSF11A TNF receptor superfamily member 11a gene DOID:820 myocarditis ISO RGD:1563614 D RGD:9068941 20200609 RGD associated with Autoimmune Diseases;mRNA:increased expression:heart myocardium PMID:18417124|REF_RGD_ID:2302361 12077036 TNFRSF11A TNF receptor superfamily member 11a gene DOID:9000965 Neoplasm Metastasis ISO RGD:1321639 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:increased expression:bone, lymph node PMID:16752412|REF_RGD_ID:2302322 12077036 TNFRSF11A TNF receptor superfamily member 11a gene DOID:9001547 Tibial Fractures ISO RGD:1563614 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18592139|REF_RGD_ID:2302324 12077036 TNFRSF11A TNF receptor superfamily member 11a gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1321639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16270354 12077036 TNFRSF11A TNF receptor superfamily member 11a gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321640 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18317887|REF_RGD_ID:2291908 12077036 TNFRSF11A TNF receptor superfamily member 11a gene DOID:9003060 Paget Disease of Bone 2, Early-Onset ISO RGD:1321639 D RGD:7240710 20190327 OMIM 12077036 TNFRSF11A TNF receptor superfamily member 11a gene DOID:9003060 Paget Disease of Bone 2, Early-Onset ISO RGD:1321639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paget disease of bone 2, early-onset PMID:10615125|PMID:11771666|PMID:12568416|PMID:17447113|PMID:17576681|PMID:21472776|PMID:25063546|PMID:25741868|PMID:28492532|PMID:31923705|PMID:9536098 12077036 TNFRSF11A TNF receptor superfamily member 11a gene DOID:9005372 Inflammation ISO RGD:1321639 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;mRNA:increased expression:breast PMID:18248671|REF_RGD_ID:2302321 12077049 DAND5 DAN domain BMP antagonist family member 5 gene DOID:0050545 visceral heterotaxy ISO RGD:1342724 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Situs ambiguus PMID:25741868 12077049 DAND5 DAN domain BMP antagonist family member 5 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1342724 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12077049 DAND5 DAN domain BMP antagonist family member 5 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1342724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12077049 DAND5 DAN domain BMP antagonist family member 5 gene DOID:0111254 glutaric acidemia I ISO RGD:1342724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12077049 DAND5 DAN domain BMP antagonist family member 5 gene DOID:3413 alpha-mannosidosis ISO RGD:1342724 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12077049 DAND5 DAN domain BMP antagonist family member 5 gene DOID:630 genetic disease ISO RGD:1342724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077049 DAND5 DAN domain BMP antagonist family member 5 gene DOID:758 situs inversus ISO RGD:1342724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:25741868 12077055 ZNF619 zinc finger protein 619 gene DOID:630 genetic disease ISO RGD:1354066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077073 PPP1R3D protein phosphatase 1 regulatory subunit 3D gene DOID:630 genetic disease ISO RGD:1315049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077078 SLC18A1 solute carrier family 18 member A1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:737319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 12077078 SLC18A1 solute carrier family 18 member A1 gene DOID:14175 von Hippel-Lindau disease ISO RGD:737319 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor (human) PMID:16189177|REF_RGD_ID:5131200 12077078 SLC18A1 solute carrier family 18 member A1 gene DOID:3312 bipolar disorder ISO RGD:737319 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr, cds:g.-584A>G (rs988713), p.T136I (rs1390938) (human) PMID:16936705|REF_RGD_ID:5131197 12077078 SLC18A1 solute carrier family 18 member A1 gene DOID:5419 schizophrenia ISO RGD:737319 D RGD:9068941 20200609 RGD DNA:snp:cds:p.T4P (human) PMID:18451639|REF_RGD_ID:5131198 12077078 SLC18A1 solute carrier family 18 member A1 gene DOID:630 genetic disease ISO RGD:737319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077105 CAPNS2 calpain small subunit 2 gene DOID:630 genetic disease ISO RGD:1345503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077110 BCL9L BCL9 like gene DOID:0060017 CD3epsilon deficiency ISO RGD:1319242 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12077110 BCL9L BCL9 like gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1319242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12077110 BCL9L BCL9 like gene DOID:0080690 RASopathy ISO RGD:1319242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12077110 BCL9L BCL9 like gene DOID:0081330 glycogen storage disease Ib ISO RGD:1319242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12077110 BCL9L BCL9 like gene DOID:0110651 long QT syndrome 10 ISO RGD:1319242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12077110 BCL9L BCL9 like gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1319242 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12077110 BCL9L BCL9 like gene DOID:0111971 immunodeficiency 18 ISO RGD:1319242 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12077110 BCL9L BCL9 like gene DOID:0111972 immunodeficiency 19 ISO RGD:1319242 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12077110 BCL9L BCL9 like gene DOID:0111973 immunodeficiency 17 ISO RGD:1319242 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12077110 BCL9L BCL9 like gene DOID:630 genetic disease ISO RGD:1319242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077110 BCL9L BCL9 like gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1319242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12077110 BCL9L BCL9 like gene DOID:9007661 Dwarfism ISO RGD:1319242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12077124 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1353529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12077124 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1353529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12077124 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:5419 schizophrenia ISO RGD:1353529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12077124 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:630 genetic disease ISO RGD:1353529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077124 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1353529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12077124 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1353529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12077124 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:9006549 Enterovirus Infections ISO RGD:1353529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28446605 12077124 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:9007661 Dwarfism ISO RGD:1353529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12077141 ISOC2 isochorismatase domain containing 2 gene DOID:630 genetic disease ISO RGD:1350867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077141 ISOC2 isochorismatase domain containing 2 gene DOID:8398 osteoarthritis ISO RGD:1350867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12077159 PRRG4 proline rich and Gla domain 4 gene DOID:1059 intellectual disability ISO RGD:1346309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12077159 PRRG4 proline rich and Gla domain 4 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1346309 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 12077159 PRRG4 proline rich and Gla domain 4 gene DOID:630 genetic disease ISO RGD:1346309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077172 TRIM24 tripartite motif containing 24 gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1350727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27238081 12077172 TRIM24 tripartite motif containing 24 gene DOID:2394 ovarian cancer ISO RGD:1350727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 12077172 TRIM24 tripartite motif containing 24 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12077172 TRIM24 tripartite motif containing 24 gene DOID:630 genetic disease ISO RGD:1350727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077172 TRIM24 tripartite motif containing 24 gene DOID:684 hepatocellular carcinoma ISO RGD:1350727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18026104 12077172 TRIM24 tripartite motif containing 24 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12077197 LOC610636 tubulin alpha-1B chain gene DOID:0050453 lissencephaly ISO RGD:1607082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly PMID:17218254|PMID:17584854|PMID:18199681|PMID:18414213|PMID:18728072|PMID:18954413|PMID:20466733|PMID:20603323|PMID:22408144|PMID:24510153|PMID:24860126|PMID:25741868|PMID:26350204|PMID:26663670|PMID:28492532|PMID:29671837|PMID:30517687|PMID:30744660 12077197 LOC610636 tubulin alpha-1B chain gene DOID:0050562 West syndrome ISO RGD:1607082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: West syndrome PMID:25741868|PMID:26130693 12077197 LOC610636 tubulin alpha-1B chain gene DOID:0070338 cerebellar hypoplasia ISO RGD:1607082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 12077197 LOC610636 tubulin alpha-1B chain gene DOID:0080143 congenital fibrosis of the extraocular muscles ISO RGD:1607082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles PMID:25741868 12077197 LOC610636 tubulin alpha-1B chain gene DOID:0080924 bilateral perisylvian polymicrogyria ISO RGD:1607082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome PMID:25741868 12077197 LOC610636 tubulin alpha-1B chain gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ISO RGD:1607082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D PMID:17584854|PMID:18414213|PMID:18728072|PMID:20466733|PMID:25741868|PMID:28492532|PMID:29671837|PMID:30517687|PMID:30744660 12077197 LOC610636 tubulin alpha-1B chain gene DOID:0112227 tubulinopathy ISO RGD:1607082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tubulinopathy PMID:17218254|PMID:17584854|PMID:18199681|PMID:18414213|PMID:18669490|PMID:18728072|PMID:18954413|PMID:20466733|PMID:20603323|PMID:21403111|PMID:22408144|PMID:22495306|PMID:24088041|PMID:24510153|PMID:24860126|PMID:25059107|PMID:25131622|PMID:25326635|PMID:25326637|PMID:25363768|PMID:25741868|PMID:26130693|PMID:26350204|PMID:26633545|PMID:26663670|PMID:27431206|PMID:28407358|PMID:28492532|PMID:28677066|PMID:28973083|PMID:29158550|PMID:29671837|PMID:29706646|PMID:29907476|PMID:30087272|PMID:30517687|PMID:30744660|PMID:31474318|PMID:31628766|PMID:31696992|PMID:31833200|PMID:32581362|PMID:32989326|PMID:33077954|PMID:33604570|PMID:3680207|PMID:6945576 12077197 LOC610636 tubulin alpha-1B chain gene DOID:0112232 lissencephaly 3 ISO RGD:1607082 D RGD:7240710 20190710 OMIM 12077197 LOC610636 tubulin alpha-1B chain gene DOID:0112232 lissencephaly 3 ISO RGD:1607082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation | ClinVar Annotator: match by term: TUBA1A-associated tubulinopathy | ClinVar Annotator: match by term: Tubulinopathies | ClinVar Annotator: match by term: Tubulinopathy-associated dysgyria PMID:17218254|PMID:17584854|PMID:18199681|PMID:18414213|PMID:18669490|PMID:18728072|PMID:18954413|PMID:20466733|PMID:20603323|PMID:21403111|PMID:22408144|PMID:22495306|PMID:24088041|PMID:24510153|PMID:24860126|PMID:25059107|PMID:25131622|PMID:25326635|PMID:25326637|PMID:25363768|PMID:25741868|PMID:26130693|PMID:26350204|PMID:26467025|PMID:26633545|PMID:26663670|PMID:28407358|PMID:28492532|PMID:28677066|PMID:28973083|PMID:29158550|PMID:29671837|PMID:29706646|PMID:30087272|PMID:30517687|PMID:30744660|PMID:31474318|PMID:31628766|PMID:31696992|PMID:31833200|PMID:32581362|PMID:32989326|PMID:33077954|PMID:33604570|PMID:34906502 12077197 LOC610636 tubulin alpha-1B chain gene DOID:10907 microcephaly ISO RGD:1607082 D RGD:9068941 20200609 RGD associated with Lissencephaly;DNA:missense mutations:cds: PMID:18728072|REF_RGD_ID:11069114 12077197 LOC610636 tubulin alpha-1B chain gene DOID:11383 cryptorchidism ISO RGD:1607082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cryptorchidism PMID:18954413|PMID:24860126|PMID:25741868|PMID:28492532|PMID:30744660|PMID:32581362 12077197 LOC610636 tubulin alpha-1B chain gene DOID:11832 visual epilepsy ISO RGD:1607082 D RGD:9068941 20200609 RGD associated with Lissencephaly;DNA:missense mutations:cds: PMID:18954413|REF_RGD_ID:11067701 12077197 LOC610636 tubulin alpha-1B chain gene DOID:14250 Down syndrome ISO RGD:1607082 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:21262400|REF_RGD_ID:12859084 12077197 LOC610636 tubulin alpha-1B chain gene DOID:1826 epilepsy ISO RGD:1607082 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure 12077197 LOC610636 tubulin alpha-1B chain gene DOID:1969 cerebral palsy ISO RGD:1607082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868|PMID:30744660|PMID:32989326 12077197 LOC610636 tubulin alpha-1B chain gene DOID:2490 congenital nervous system abnormality ISO RGD:1550064 D RGD:9068941 20220825 MouseDO 12077197 LOC610636 tubulin alpha-1B chain gene DOID:2785 Dandy-Walker syndrome ISO RGD:1607082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:20466733|PMID:25741868|PMID:28492532|PMID:30744660|PMID:31474318|PMID:31628766|PMID:33077954 12077197 LOC610636 tubulin alpha-1B chain gene DOID:308 early myoclonic encephalopathy ISO RGD:1607082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy PMID:25741868|PMID:28492532|PMID:30744660|PMID:31833200 12077197 LOC610636 tubulin alpha-1B chain gene DOID:480 movement disease ISO RGD:1607082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Movement disorder PMID:25741868|PMID:30744660|PMID:32989326 12077197 LOC610636 tubulin alpha-1B chain gene DOID:630 genetic disease ISO RGD:1607082 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17218254|PMID:17584854|PMID:18199681|PMID:18414213|PMID:18669490|PMID:18728072|PMID:19344873|PMID:20466733|PMID:22495306|PMID:24860126|PMID:25059107|PMID:25131622|PMID:25363768|PMID:25741868|PMID:25956360|PMID:26130693|PMID:26493046|PMID:26663670|PMID:27129203|PMID:28407358|PMID:28492532|PMID:29158550|PMID:29671837|PMID:29907476|PMID:30087272|PMID:30517687|PMID:30744660|PMID:31474318|PMID:31628766|PMID:31696992|PMID:32581362|PMID:33077954|PMID:3316988|PMID:33604570|PMID:35404502|PMID:3680207|PMID:6945576 12077197 LOC610636 tubulin alpha-1B chain gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1607082 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:25741868 12077197 LOC610636 tubulin alpha-1B chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607082 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:18414213|PMID:25131622|PMID:25741868|PMID:30087272|PMID:30517687|PMID:30744660|PMID:31696992|PMID:32581362|PMID:33604570 12077197 LOC610636 tubulin alpha-1B chain gene DOID:9005501 Abnormal Cortical Gyration ISO RGD:1607082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal cortical gyration PMID:25741868|PMID:28492532 12077197 LOC610636 tubulin alpha-1B chain gene DOID:9006534 Nervous System Malformations ISO RGD:1607082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12077197 LOC610636 tubulin alpha-1B chain gene DOID:9007102 Myocardial Ischemia ISO RGD:1607082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12077197 LOC610636 tubulin alpha-1B chain gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1607082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12077197 LOC610636 tubulin alpha-1B chain gene DOID:9008086 Developmental Disabilities ISO RGD:1607082 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:18414213|PMID:25131622|PMID:25741868|PMID:30087272|PMID:30517687|PMID:30744660|PMID:31696992|PMID:32581362|PMID:33604570 12077205 TNFRSF12A TNF receptor superfamily member 12A gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1343569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12077205 TNFRSF12A TNF receptor superfamily member 12A gene DOID:1826 epilepsy ISO RGD:1343569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12077205 TNFRSF12A TNF receptor superfamily member 12A gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1343569 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12077205 TNFRSF12A TNF receptor superfamily member 12A gene DOID:3021 acute kidney failure ISO RGD:1343569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23052191 12077205 TNFRSF12A TNF receptor superfamily member 12A gene DOID:5844 myocardial infarction ISO RGD:1343569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20082609 12077205 TNFRSF12A TNF receptor superfamily member 12A gene DOID:630 genetic disease ISO RGD:1343569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077205 TNFRSF12A TNF receptor superfamily member 12A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12077213 BCAS4 breast carcinoma amplified sequence 4 gene DOID:630 genetic disease ISO RGD:1352594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077230 CTBP2 C-terminal binding protein 2 gene DOID:630 genetic disease ISO RGD:68535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077230 CTBP2 C-terminal binding protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264096 12077230 CTBP2 C-terminal binding protein 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:68535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28414304 12077230 CTBP2 C-terminal binding protein 2 gene DOID:9007098 Pulmonary Atresia ISO RGD:68535 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia PMID:25741868 12077230 CTBP2 C-terminal binding protein 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:68535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28414304 12077263 MIR196B microRNA mir-196b gene DOID:0060071 pre-malignant neoplasm ISO RGD:1350479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12077263 MIR196B microRNA mir-196b gene DOID:219 colon cancer disease_progression ISO RGD:1350479 D RGD:9068941 20220825 RGD human cells in mouse model;RNA:decreased expression:colon,exosome (human) PMID:28211508|REF_RGD_ID:153344546 12077263 MIR196B microRNA mir-196b gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12077263 MIR196B microRNA mir-196b gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1350479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12077263 MIR196B microRNA mir-196b gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1350479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12077266 MIRLET7E microRNA let-7e gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1352382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12077266 MIRLET7E microRNA let-7e gene DOID:9256 colorectal cancer ISO RGD:1352382 D RGD:9068941 20220811 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12077386 PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 gene DOID:0060356 Vici syndrome ISO RGD:1352589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 12077386 PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 gene DOID:0060645 chronic recurrent multifocal osteomyelitis ISO RGD:1558463 D RGD:9068941 20230202 MouseDO OMIM:259680 12077386 PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 gene DOID:1059 intellectual disability ISO RGD:1352589 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12077386 PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 gene DOID:13677 SAPHO syndrome ISO RGD:1352589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 12077386 PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 gene DOID:630 genetic disease ISO RGD:1352589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077386 PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1352589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 12077408 JPH4 junctophilin 4 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1315305 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12077408 JPH4 junctophilin 4 gene DOID:0080600 COVID-19 ISO RGD:1315305 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12077408 JPH4 junctophilin 4 gene DOID:630 genetic disease ISO RGD:1315305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077408 JPH4 junctophilin 4 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1315305 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12077408 JPH4 junctophilin 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1315305 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12077419 KCTD6 potassium channel tetramerization domain containing 6 gene DOID:630 genetic disease ISO RGD:1317853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077419 KCTD6 potassium channel tetramerization domain containing 6 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1317853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 12077444 DYNLT3 dynein light chain Tctex-type 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12077444 DYNLT3 dynein light chain Tctex-type 3 gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1350586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:22929960|PMID:27701760|PMID:28492532 12077444 DYNLT3 dynein light chain Tctex-type 3 gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1350586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 12077444 DYNLT3 dynein light chain Tctex-type 3 gene DOID:12849 autistic disorder ISO RGD:1350586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12077444 DYNLT3 dynein light chain Tctex-type 3 gene DOID:630 genetic disease ISO RGD:1350586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077444 DYNLT3 dynein light chain Tctex-type 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12077444 DYNLT3 dynein light chain Tctex-type 3 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1350586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16786505|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 12077444 DYNLT3 dynein light chain Tctex-type 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1350586 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1349365 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1349365 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:11335 sarcoidosis ISO RGD:1349365 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17949965|REF_RGD_ID:4145494 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:1205 allergic disease ISO RGD:1349365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1349365 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17641031|REF_RGD_ID:4145495 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:1349365 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:17898016|REF_RGD_ID:4145612 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:1485 cystic fibrosis ISO RGD:1349365 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:neutrophil PMID:18026571|REF_RGD_ID:4145491 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1349365 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:2799 bronchiolitis obliterans ISO RGD:1349365 D RGD:9068941 20200609 RGD PMID:18785972|REF_RGD_ID:4145604 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:2841 asthma ISO RGD:1349365 D RGD:9068941 20200609 RGD PMID:20237293|REF_RGD_ID:4145486 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:2841 asthma ISO RGD:619924 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:2841 asthma ISO RGD:733477 D RGD:9068941 20200609 RGD PMID:11160256|PMID:15947487|REF_RGD_ID:4145513|REF_RGD_ID:4145603 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:2841 asthma ISO RGD:733477 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:20074456|REF_RGD_ID:4145487 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:3042 allergic contact dermatitis ISO RGD:733477 D RGD:9068941 20200609 RGD PMID:15491423|REF_RGD_ID:1626251 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:3082 interstitial lung disease ISO RGD:1349365 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18276722|REF_RGD_ID:4145606 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1349365 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion PMID:18684970|REF_RGD_ID:4145489 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:3310 atopic dermatitis ISO RGD:1349365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:3770 pulmonary fibrosis ISO RGD:1349365 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:19715610|REF_RGD_ID:4145488 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:3770 pulmonary fibrosis ISO RGD:619924 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:4483 rhinitis ISO RGD:1349365 D RGD:9068941 20200609 RGD protein:increased expression:blood, mononuclear cell PMID:17517104|REF_RGD_ID:4145498 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:619924 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:20071465|REF_RGD_ID:4145614 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:552 pneumonia ISO RGD:1349365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:552 pneumonia ISO RGD:619924 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:630 genetic disease ISO RGD:1349365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:9001371 Eosinophilia severity ISO RGD:1349365 D RGD:9068941 20200609 RGD associated with Lymphoma, T-Cell PMID:18395252|REF_RGD_ID:11354898 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:733477 D RGD:9068941 20200609 RGD PMID:15466387|REF_RGD_ID:4145515 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:9007417 Pseudomonas Infections ISO RGD:1349365 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:16387607|REF_RGD_ID:4145500 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:9008604 Radiation Pneumonitis ISO RGD:619924 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, alveolar macrophage PMID:15293604|REF_RGD_ID:4145517 12077453 CCL17 C-C motif chemokine ligand 17 gene DOID:9498 pulmonary eosinophilia ISO RGD:1349365 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:11956056|REF_RGD_ID:4145602 12077464 UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 gene DOID:0060041 autism spectrum disorder ISO RGD:1349499 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12077464 UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 gene DOID:0060476 Perlman syndrome ISO RGD:1349499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12077464 UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1349499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12077464 UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 gene DOID:2043 hepatitis B susceptibility ISO RGD:1349499 D RGD:9068941 20200609 RGD DNA:SNP: : rs2070959(human) PMID:29239247|REF_RGD_ID:14401574 12077464 UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 gene DOID:2739 Gilbert syndrome ISO RGD:1349499 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gilbert syndrome | ClinVar Annotator: match by term: Gilbert syndrome, susceptibility to | ClinVar Annotator: match by term: Gilbert's syndrome | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE PMID:10412811|PMID:10472535|PMID:11013440|PMID:11061796|PMID:11182932|PMID:11316168|PMID:11906189|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12402338|PMID:12485959|PMID:12502904|PMID:14550264|PMID:14616765|PMID:15007088|PMID:15304109|PMID:15304120|PMID:15378351|PMID:15712364|PMID:16269258|PMID:16504606|PMID:16610035|PMID:1692835|PMID:17510208|PMID:17850628|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19243019|PMID:19325249|PMID:19390945|PMID:19397531|PMID:19414484|PMID:19450125|PMID:19830808|PMID:20530282|PMID:20975617|PMID:21272068|PMID:21297505|PMID:21319362|PMID:21342357|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:22992668|PMID:23014115|PMID:23099197|PMID:23290513|PMID:23386248|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24033692|PMID:24390994|PMID:24492252|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25755387|PMID:25869015|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26697581|PMID:26716871|PMID:26727668|PMID:26830078|PMID:26857783|PMID:27220761|PMID:27264814|PMID:27845419|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29137095|PMID:30544479|PMID:31145902|PMID:31467903|PMID:31737051|PMID:31858773|PMID:32860008|PMID:6480579|PMID:7715297|PMID:7906695|PMID:8102509|PMID:8276413|PMID:8528206|PMID:8706880|PMID:9621515|PMID:9630669|PMID:9784835|PMID:9929972 12077464 UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 gene DOID:2741 bilirubin metabolic disorder ISO RGD:1349499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperbilirubinemia PMID:11061796|PMID:11182932|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12485959|PMID:15304109|PMID:15304120|PMID:15712364|PMID:16269258|PMID:18004206|PMID:18414213|PMID:18419642|PMID:21297505|PMID:21319362|PMID:22169899|PMID:22325916|PMID:22514612|PMID:23290513|PMID:23875061|PMID:24033266|PMID:24749086|PMID:25741868|PMID:25993113|PMID:26039129|PMID:26250421|PMID:26697581|PMID:26716871|PMID:26727668|PMID:27264814|PMID:28492532|PMID:29137095|PMID:31145902|PMID:31737051|PMID:9630669 12077464 UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 gene DOID:2773 contact dermatitis ISO RGD:1349499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12077464 UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 gene DOID:3803 Crigler-Najjar syndrome ISO RGD:1349499 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Crigler-Najjar syndrome | ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1 | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I PMID:11013440|PMID:11061796|PMID:11182932|PMID:11968090|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12485959|PMID:14550264|PMID:14616765|PMID:15304109|PMID:15304120|PMID:15712364|PMID:16269258|PMID:1634050|PMID:16504606|PMID:16610035|PMID:1692835|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19217809|PMID:19325249|PMID:19830808|PMID:21297505|PMID:21319362|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:23099197|PMID:23290513|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24390994|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25822733|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26697581|PMID:26716871|PMID:26727668|PMID:27264814|PMID:28492532|PMID:29137095|PMID:31737051|PMID:7906695|PMID:7936809|PMID:8102509|PMID:8276413|PMID:8514037|PMID:8706880|PMID:9039987|PMID:9497253|PMID:9621515|PMID:9630669|PMID:9639672 12077464 UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 gene DOID:630 genetic disease ISO RGD:1349499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11182932|PMID:15712364|PMID:16269258|PMID:18058623|PMID:18414213|PMID:19830808|PMID:22325916|PMID:23290513|PMID:23875061|PMID:25200497|PMID:25741868|PMID:26039129|PMID:26697581|PMID:26716871|PMID:28492532|PMID:31145902|PMID:8514037|PMID:9621515|PMID:9639672 12077464 UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 gene DOID:9000599 Hyperbilirubinemia, Transient Familial Neonatal ISO RGD:1349499 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia PMID:10412811|PMID:10472535|PMID:11061796|PMID:11182932|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12485959|PMID:12502904|PMID:14550264|PMID:15304109|PMID:15304120|PMID:15712364|PMID:16269258|PMID:16504606|PMID:16610035|PMID:17850628|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19243019|PMID:19325249|PMID:19390945|PMID:19397531|PMID:19830808|PMID:20975617|PMID:21272068|PMID:21297505|PMID:21319362|PMID:21342357|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:23014115|PMID:23099197|PMID:23290513|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24033692|PMID:24390994|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26697581|PMID:26716871|PMID:26727668|PMID:26830078|PMID:26857783|PMID:27220761|PMID:27264814|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29137095|PMID:31737051|PMID:8706880|PMID:9630669|PMID:9784835|PMID:9929972 12077464 UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 gene DOID:9001862 Crigler Najjar Syndrome, Type 2 ISO RGD:1349499 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2 | ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II PMID:10412811|PMID:10472535|PMID:11013440|PMID:11061796|PMID:11316168|PMID:11370628|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12402338|PMID:12485959|PMID:12502904|PMID:14550264|PMID:14616765|PMID:15304109|PMID:15304120|PMID:15712364|PMID:1692835|PMID:17229650|PMID:17850628|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19243019|PMID:19325249|PMID:19390945|PMID:19397531|PMID:19830808|PMID:20975617|PMID:21272068|PMID:21297505|PMID:21319362|PMID:21342357|PMID:22169899|PMID:23014115|PMID:23099197|PMID:23290513|PMID:23875061|PMID:24033266|PMID:24033692|PMID:24492252|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25755387|PMID:25822733|PMID:25993113|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26727668|PMID:26830078|PMID:26857783|PMID:27220761|PMID:27264814|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29137095|PMID:30544479|PMID:31467903|PMID:31737051|PMID:6480579|PMID:7715297|PMID:7989595|PMID:805737|PMID:8276413|PMID:8514037|PMID:8528206|PMID:8706880|PMID:9621515|PMID:9630669|PMID:9784835|PMID:9929972 12077464 UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:620949 D RGD:9068941 20220414 RGD mRNA,protein:increased expression,increased activity:intestine, colon: PMID:23545594|REF_RGD_ID:10769362 12077482 FAM185A family with sequence similarity 185 member A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12077482 FAM185A family with sequence similarity 185 member A gene DOID:630 genetic disease ISO RGD:1601709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:0050700 cardiomyopathy ISO RGD:1315043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18342293 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1315043 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:0111955 immunodeficiency 27A ISO RGD:1315043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:10976 membranous glomerulonephritis ISO RGD:1306565 D RGD:9068941 20200609 RGD protein:increased activity,protein:renal glomerulus: PMID:18178252|REF_RGD_ID:10412641 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:11832 visual epilepsy ISO RGD:1306565 D RGD:9068941 20200609 RGD protein:increased expression:CA1 field of hippocampus: PMID:12786973|REF_RGD_ID:2298728 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:12858 Huntington's disease ISO RGD:1315044 D RGD:9068941 20200609 RGD protein:increased expression:cortex,striatum,nucleus: PMID:19646509|REF_RGD_ID:10412311 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:12858 Huntington's disease onset ISO RGD:1315043 D RGD:9068941 20200609 RGD DNa:SNO:promoter:rs5880308(human) PMID:18327563|REF_RGD_ID:10412314 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:12858 Huntington's disease treatment ISO RGD:1315044 D RGD:9068941 20200609 RGD PMID:19646509|REF_RGD_ID:10412311 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:14330 Parkinson's disease ISO RGD:1315043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21815648 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:1561 cognitive disorder ISO RGD:1315044 D RGD:9068941 20200609 RGD associated with Chronic Cerebral Hypoperfusion; PMID:24371084|REF_RGD_ID:10412307 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:1909 melanoma ISO RGD:1315043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22197930 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:224 transient cerebral ischemia ISO RGD:1306565 D RGD:9068941 20200609 RGD protein:increased nitrosylation, activity:hippocampus: PMID:23137546|REF_RGD_ID:10412334 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1315044 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:motor neuron: PMID:15910777|REF_RGD_ID:10412312 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:3526 cerebral infarction treatment ISO RGD:1306565 D RGD:9068941 20200609 RGD PMID:23968852|REF_RGD_ID:10412642 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:5844 myocardial infarction treatment ISO RGD:1306565 D RGD:9068941 20200609 RGD PMID:22635076|REF_RGD_ID:10412335 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:6000 congestive heart failure ISO RGD:1315044 D RGD:9068941 20200609 RGD protein:increased activity:heart: PMID:17562954|REF_RGD_ID:10412331 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:630 genetic disease ISO RGD:1315043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1315043 D RGD:9068941 20200609 RGD protein:increased expression:intestine: PMID:20716917|REF_RGD_ID:10412640 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1306565 D RGD:9068941 20200609 RGD protein:increased expression:white matter and grey matter: PMID:10331432|REF_RGD_ID:10412645 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:1306565 D RGD:9068941 20200709 RGD PMID:30226536|REF_RGD_ID:35316073 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:1306565 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:lung: PMID:24126891|REF_RGD_ID:10412643 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9002056 Arterial Injury ISO RGD:1315044 D RGD:9068941 20200609 RGD PMID:14638553|REF_RGD_ID:10412321 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9002457 Experimental Arthritis ISO RGD:1315043 D RGD:9068941 20200609 RGD PMID:16331767|REF_RGD_ID:10412332 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9002514 Neointima treatment ISO RGD:1306565 D RGD:9068941 20200609 RGD PMID:14638553|REF_RGD_ID:10412321 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1306565 D RGD:9068941 20200609 RGD PMID:21843499|REF_RGD_ID:9587791 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1315043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18342293 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9006182 Carotid Artery Injuries ISO RGD:1306565 D RGD:9068941 20200609 RGD protein:increased activity:carotid artery: PMID:14638553|REF_RGD_ID:10412321 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1306565 D RGD:9068941 20200609 RGD PMID:23952292|REF_RGD_ID:10412647 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1315043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18700144 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:1306565 D RGD:9068941 20220923 RGD PMID:31583047|REF_RGD_ID:155230831 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:1315044 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:brain: PMID:24371084|REF_RGD_ID:10412307 12077495 MAP3K5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9351 diabetes mellitus ISO RGD:1315043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16731828 12077495 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9007174 Ventricular Remodeling ISO RGD:1315044 D RGD:9068941 20200609 RGD PMID:14665690|REF_RGD_ID:10412322 12077529 TTYH1 tweety family member 1 gene DOID:630 genetic disease ISO RGD:1320816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077555 PRPF31 pre-mRNA processing factor 31 gene DOID:0110408 retinitis pigmentosa 11 ISO RGD:1314103 D RGD:7240710 20180130 OMIM 12077555 PRPF31 pre-mRNA processing factor 31 gene DOID:0110408 retinitis pigmentosa 11 ISO RGD:1314103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 11 PMID:11545739|PMID:12923864|PMID:16199547|PMID:16708387|PMID:16799052|PMID:17325180|PMID:17412961|PMID:17576681|PMID:18317597|PMID:19293337|PMID:19618371|PMID:20861475|PMID:23288994|PMID:23950152|PMID:25356976|PMID:25525159|PMID:25741868|PMID:26781568|PMID:26872967|PMID:28192796|PMID:28492532|PMID:29847639|PMID:29957067|PMID:30582903|PMID:31047384|PMID:31054281|PMID:31690835|PMID:31892304|PMID:32014492|PMID:32037395|PMID:33085829|PMID:33090715|PMID:33946315|PMID:5764686|PMID:8004108|PMID:8025041|PMID:8808602|PMID:9345108|PMID:9536098 12077555 PRPF31 pre-mRNA processing factor 31 gene DOID:10584 retinitis pigmentosa ISO RGD:1314103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16799052|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:25741868|PMID:28041643|PMID:28166811|PMID:28492532|PMID:29847639|PMID:30337596|PMID:30582903|PMID:30718709|PMID:30921587|PMID:33095315 12077555 PRPF31 pre-mRNA processing factor 31 gene DOID:10584 retinitis pigmentosa ISO RGD:1314103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:16799052|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:25324289|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28512305|PMID:29260190|PMID:29847639|PMID:30337596|PMID:30582903|PMID:3071870|PMID:30718709|PMID:30921587|PMID:33090715|PMID:33095315 12077555 PRPF31 pre-mRNA processing factor 31 gene DOID:14791 Leber congenital amaurosis ISO RGD:1314103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:30718709 12077555 PRPF31 pre-mRNA processing factor 31 gene DOID:630 genetic disease ISO RGD:1314103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12077555 PRPF31 pre-mRNA processing factor 31 gene DOID:8501 fundus dystrophy ISO RGD:1314103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11545739|PMID:16199547|PMID:16799052|PMID:16917484|PMID:17325180|PMID:17576681|PMID:18317597|PMID:20861475|PMID:23288994|PMID:23343310|PMID:23950152|PMID:24265693|PMID:24664689|PMID:25356976|PMID:25525159|PMID:25741868|PMID:26872967|PMID:27208204|PMID:28041643|PMID:28492532|PMID:29847639|PMID:29957067|PMID:30543658|PMID:30582903|PMID:30718709|PMID:31047384|PMID:31054281|PMID:31892304|PMID:32014492|PMID:32037395|PMID:33090715|PMID:33851411|PMID:33946315|PMID:8808602|PMID:9536098 12077573 HLTF helicase like transcription factor gene DOID:0050579 glycogen storage disease XV ISO RGD:1319146 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12077573 HLTF helicase like transcription factor gene DOID:630 genetic disease ISO RGD:1319146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077573 HLTF helicase like transcription factor gene DOID:9002265 Kidney Neoplasms ISO RGD:1319146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762066 12077612 ACVRL1 activin A receptor like type 1 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:10079 D RGD:9068941 20220825 MouseDO OMIM:108010 12077612 ACVRL1 activin A receptor like type 1 gene DOID:0080600 COVID-19 ISO RGD:737253 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12077612 ACVRL1 activin A receptor like type 1 gene DOID:11294 arteriovenous malformation ISO RGD:10079 D RGD:9068941 20200609 RGD PMID:11062473|REF_RGD_ID:1300250 12077612 ACVRL1 activin A receptor like type 1 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:737253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:21158752|PMID:25637381|PMID:26176610|PMID:28166811|PMID:28492532 12077612 ACVRL1 activin A receptor like type 1 gene DOID:1588 thrombocytopenia ISO RGD:737253 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:20501893|PMID:24033266|PMID:25741868|PMID:28492532 12077612 ACVRL1 activin A receptor like type 1 gene DOID:2213 hemorrhagic disease ISO RGD:737253 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:20501893|PMID:24033266|PMID:25741868|PMID:28492532 12077612 ACVRL1 activin A receptor like type 1 gene DOID:224 transient cerebral ischemia ISO RGD:2029 D RGD:9068941 20200609 RGD PMID:15781474|REF_RGD_ID:1579751 12077612 ACVRL1 activin A receptor like type 1 gene DOID:630 genetic disease ISO RGD:737253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077612 ACVRL1 activin A receptor like type 1 gene DOID:6432 pulmonary hypertension ISO RGD:2029 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17392319|REF_RGD_ID:1601116 12077612 ACVRL1 activin A receptor like type 1 gene DOID:6432 pulmonary hypertension ISO RGD:737253 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26540443 12077612 ACVRL1 activin A receptor like type 1 gene DOID:6432 pulmonary hypertension disease_progression ISO RGD:737253 D RGD:9068941 20200609 RGD DNA:mutations (human) PMID:20056902|REF_RGD_ID:5128837 12077612 ACVRL1 activin A receptor like type 1 gene DOID:6432 pulmonary hypertension susceptibility ISO RGD:737253 D RGD:9068941 20200609 RGD associated with hereditary haemorrhagic telangiectasia;DNA:missense mutations PMID:14684682|REF_RGD_ID:1601117 12077612 ACVRL1 activin A receptor like type 1 gene DOID:9001227 Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related ISO RGD:737253 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PMID:10187774|PMID:10767348|PMID:11170071|PMID:11484689|PMID:12114496|PMID:12700602|PMID:12843319|PMID:14684682|PMID:15024723|PMID:15065824|PMID:15375013|PMID:15517393|PMID:15687131|PMID:15712271|PMID:15880681|PMID:16123970|PMID:16282348|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16540754|PMID:16542389|PMID:16690726|PMID:16705692|PMID:16706966|PMID:16752392|PMID:16829353|PMID:16861286|PMID:17384219|PMID:17786384|PMID:18159113|PMID:18285823|PMID:18498373|PMID:18673552|PMID:19115559|PMID:19357124|PMID:19767588|PMID:20056902|PMID:20414677|PMID:20501893|PMID:20609011|PMID:21158752|PMID:21378382|PMID:21651515|PMID:22377182|PMID:22553411|PMID:22632830|PMID:22991266|PMID:23124896|PMID:23298310|PMID:23722869|PMID:23805858|PMID:23919827|PMID:24001356|PMID:24196379|PMID:24603890|PMID:25318803|PMID:25326635|PMID:25741868|PMID:25970827|PMID:26176610|PMID:26387786|PMID:27316748|PMID:27587546|PMID:27613157|PMID:27869117|PMID:28492532|PMID:29449337|PMID:29631995|PMID:29650961|PMID:29743074|PMID:30260738|PMID:30303062|PMID:30578383|PMID:30578397|PMID:31019026|PMID:31220907|PMID:31400083|PMID:31455059|PMID:31511490|PMID:32300199|PMID:32503579|PMID:32573726|PMID:32581362|PMID:33919892|PMID:8640225|PMID:9245985 12077612 ACVRL1 activin A receptor like type 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:737253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:10767348|PMID:11484689|PMID:12114496|PMID:14684682|PMID:15024723|PMID:15517393|PMID:15687131|PMID:15880681|PMID:16429404|PMID:16470787|PMID:16540754|PMID:16542389|PMID:16752392|PMID:17384219|PMID:17786384|PMID:18159113|PMID:18495117|PMID:18498373|PMID:18673552|PMID:19767588|PMID:20056902|PMID:20501893|PMID:21378382|PMID:22632830|PMID:23124896|PMID:23298310|PMID:23919827|PMID:24033266|PMID:24753439|PMID:25741868|PMID:25970827|PMID:26387786|PMID:27316748|PMID:27587546|PMID:28492532|PMID:29449337|PMID:29650961|PMID:29743074|PMID:30260738|PMID:30303062|PMID:30578383|PMID:31019026|PMID:32300199|PMID:32503579|PMID:32581362|PMID:32899377 12077612 ACVRL1 activin A receptor like type 1 gene DOID:9002350 Hereditary Hemorrhagic Telangiectasia, Type 1 ISO RGD:737253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 PMID:15024723|PMID:15065824|PMID:15517393|PMID:15712271|PMID:16282348|PMID:16429404|PMID:16470787|PMID:16540754|PMID:16705692|PMID:16861286|PMID:17219009|PMID:17384219|PMID:17576681|PMID:17786384|PMID:18673552|PMID:19767588|PMID:20414677|PMID:20501893|PMID:21158752|PMID:23722869|PMID:23919827|PMID:24196379|PMID:25741868|PMID:26176610|PMID:26387786|PMID:28492532|PMID:29631995|PMID:30578397|PMID:31220907|PMID:32300199|PMID:32573726|PMID:9536098 12077612 ACVRL1 activin A receptor like type 1 gene DOID:9004771 Vascular Remodeling ISO RGD:737253 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26540443 12077612 ACVRL1 activin A receptor like type 1 gene DOID:9005819 Hereditary Hemorrhagic Telangiectasia, Type 2 ISO RGD:737253 D RGD:7240710 20180130 OMIM 12077612 ACVRL1 activin A receptor like type 1 gene DOID:9005819 Hereditary Hemorrhagic Telangiectasia, Type 2 ISO RGD:737253 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Lip telangiectasia | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 2 PMID:10187774|PMID:10694922|PMID:10767348|PMID:10946360|PMID:11170071|PMID:11484689|PMID:11865300|PMID:12079393|PMID:12114496|PMID:12700602|PMID:12843319|PMID:14684682|PMID:15024723|PMID:15065824|PMID:15266205|PMID:15375013|PMID:15517393|PMID:15521985|PMID:15687131|PMID:15712270|PMID:15712271|PMID:15879500|PMID:15880681|PMID:15993872|PMID:16123970|PMID:16199547|PMID:16282348|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16540754|PMID:16542389|PMID:16611099|PMID:16690726|PMID:16705692|PMID:16706966|PMID:16752392|PMID:16829353|PMID:16861286|PMID:17219009|PMID:17384219|PMID:17576681|PMID:17786384|PMID:18159113|PMID:18285823|PMID:18312453|PMID:18495117|PMID:18498373|PMID:18673552|PMID:19357124|PMID:19508727|PMID:19555857|PMID:19763152|PMID:19767588|PMID:20056902|PMID:20307669|PMID:20414677|PMID:20501893|PMID:21132305|PMID:21158752|PMID:21378382|PMID:21398687|PMID:21488239|PMID:21536610|PMID:21546842|PMID:22028876|PMID:22377182|PMID:22406018|PMID:22553411|PMID:22632830|PMID:22718755|PMID:22781769|PMID:22799562|PMID:22977237|PMID:22991266|PMID:23124896|PMID:23298310|PMID:23535011|PMID:23568730|PMID:23653583|PMID:23722869|PMID:23729109|PMID:23805858|PMID:23919827|PMID:24001356|PMID:24033266|PMID:24055113|PMID:24196379|PMID:24603890|PMID:24753439|PMID:25318803|PMID:25326635|PMID:25557927|PMID:25637381|PMID:25741868|PMID:25778885|PMID:25970827|PMID:26176610|PMID:26245826|PMID:26387786|PMID:26401274|PMID:26986070|PMID:27077548|PMID:27081284|PMID:27291782|PMID:27316748|PMID:27587546|PMID:27613157|PMID:27630060|PMID:27869117|PMID:28166811|PMID:28492532|PMID:28655553|PMID:29171923|PMID:29449337|PMID:29515340|PMID:29631995|PMID:29650961|PMID:29743074|PMID:29923633|PMID:30120215|PMID:30244195|PMID:30251589|PMID:30260738|PMID:30303062|PMID:30578383|PMID:30578397|PMID:31019026|PMID:31220907|PMID:31327192|PMID:31400083|PMID:31450639|PMID:31455059|PMID:31511490|PMID:31594285|PMID:31618753|PMID:31727138|PMID:31875044|PMID:32165824|PMID:32300199|PMID:32503579|PMID:32573726|PMID:32581362|PMID:32899377|PMID:33919892|PMID:34008892|PMID:34501220|PMID:34872578|PMID:6470589|PMID:8640225|PMID:9245985|PMID:9536098 12077612 ACVRL1 activin A receptor like type 1 gene DOID:9008421 Epistaxis ISO RGD:737253 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Epistaxis PMID:11484689|PMID:15687131|PMID:16540754|PMID:17786384|PMID:18159113|PMID:18498373|PMID:20056902|PMID:20501893|PMID:21378382|PMID:22632830|PMID:23124896|PMID:23298310|PMID:23919827|PMID:25741868|PMID:26387786|PMID:27316748|PMID:28492532|PMID:30260738|PMID:32581362 12077612 ACVRL1 activin A receptor like type 1 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:737253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:12700602|PMID:14684682|PMID:15024723|PMID:15712271|PMID:15879500|PMID:15880681|PMID:16429404|PMID:16470787|PMID:16540754|PMID:16690726|PMID:16705692|PMID:18159113|PMID:18495117|PMID:18498373|PMID:19555857|PMID:20414677|PMID:20501893|PMID:21158752|PMID:22632830|PMID:22781769|PMID:23298310|PMID:23535011|PMID:23722869|PMID:24753439|PMID:25557927|PMID:25741868|PMID:26387786|PMID:27316748|PMID:28492532|PMID:28918311|PMID:29449337|PMID:29515340|PMID:31400083|PMID:31727138|PMID:32300199|PMID:32503579|PMID:32581362|PMID:9245985 12077637 PLA2G5 phospholipase A2 group V gene DOID:0060369 Parkinson's disease 6 ISO RGD:735328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12077637 PLA2G5 phospholipase A2 group V gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:735328 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12077637 PLA2G5 phospholipase A2 group V gene DOID:0060869 late-onset retinal degeneration ISO RGD:735328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Late-onset retinal degeneration 12077637 PLA2G5 phospholipase A2 group V gene DOID:0080543 hyperprolinemia type 2 ISO RGD:735328 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12077637 PLA2G5 phospholipase A2 group V gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:735328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12077637 PLA2G5 phospholipase A2 group V gene DOID:0111677 familial benign fleck retina ISO RGD:735328 D RGD:7240710 20180130 OMIM 12077637 PLA2G5 phospholipase A2 group V gene DOID:0111677 familial benign fleck retina ISO RGD:735328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fleck retina, familial benign PMID:17502520|PMID:22137173|PMID:25549071|PMID:28492532 12077637 PLA2G5 phospholipase A2 group V gene DOID:630 genetic disease ISO RGD:735328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12077637 PLA2G5 phospholipase A2 group V gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:735328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12077672 RNF111 ring finger protein 111 gene DOID:2717 Bloom syndrome ISO RGD:1320805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12077672 RNF111 ring finger protein 111 gene DOID:630 genetic disease ISO RGD:1320805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077672 RNF111 ring finger protein 111 gene DOID:9256 colorectal cancer ISO RGD:1320805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12077711 PIGP phosphatidylinositol glycan anchor biosynthesis class P gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:25741868|PMID:28334793|PMID:28492532|PMID:31139695|PMID:32042915 12077711 PIGP phosphatidylinositol glycan anchor biosynthesis class P gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316260 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12077711 PIGP phosphatidylinositol glycan anchor biosynthesis class P gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316260 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12077711 PIGP phosphatidylinositol glycan anchor biosynthesis class P gene DOID:0080283 developmental and epileptic encephalopathy 55 ISO RGD:1316260 D RGD:7240710 20190315 OMIM 12077711 PIGP phosphatidylinositol glycan anchor biosynthesis class P gene DOID:0080283 developmental and epileptic encephalopathy 55 ISO RGD:1316260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 55 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 55 PMID:25741868|PMID:28334793|PMID:28492532|PMID:31139695|PMID:32042915 12077711 PIGP phosphatidylinositol glycan anchor biosynthesis class P gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:28334793|PMID:28492532|PMID:31139695|PMID:32042915 12077711 PIGP phosphatidylinositol glycan anchor biosynthesis class P gene DOID:1826 epilepsy ISO RGD:1316260 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12077711 PIGP phosphatidylinositol glycan anchor biosynthesis class P gene DOID:630 genetic disease ISO RGD:1316260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12077711 PIGP phosphatidylinositol glycan anchor biosynthesis class P gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 12077720 SUB1 SUB1 regulator of transcription gene DOID:630 genetic disease ISO RGD:1605698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077720 SUB1 SUB1 regulator of transcription gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12077729 UBE4B ubiquitination factor E4B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12077729 UBE4B ubiquitination factor E4B gene DOID:0060224 atrial fibrillation ISO RGD:1312355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12077729 UBE4B ubiquitination factor E4B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1312355 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12077729 UBE4B ubiquitination factor E4B gene DOID:0081292 traumatic brain injury ISO RGD:1312355 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27822499 12077729 UBE4B ubiquitination factor E4B gene DOID:0111936 immunodeficiency 14 ISO RGD:1312355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 12077729 UBE4B ubiquitination factor E4B gene DOID:630 genetic disease ISO RGD:1312355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077729 UBE4B ubiquitination factor E4B gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1312355 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27822499 12077729 UBE4B ubiquitination factor E4B gene DOID:9002498 Wallerian Degeneration ISO RGD:1312355 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27822499 12077729 UBE4B ubiquitination factor E4B gene DOID:9008582 Developmental Disease ISO RGD:1312355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12077768 TMEM248 transmembrane protein 248 gene DOID:14755 argininosuccinic aciduria ISO RGD:1602880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:28492532 12077768 TMEM248 transmembrane protein 248 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12077768 TMEM248 transmembrane protein 248 gene DOID:630 genetic disease ISO RGD:1602880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077782 SSNA1 SS nuclear autoantigen 1 gene DOID:0050777 Joubert syndrome ISO RGD:1321056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12077782 SSNA1 SS nuclear autoantigen 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1321056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12077782 SSNA1 SS nuclear autoantigen 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1321056 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12077782 SSNA1 SS nuclear autoantigen 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12077782 SSNA1 SS nuclear autoantigen 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1321056 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12077782 SSNA1 SS nuclear autoantigen 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1321056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12077782 SSNA1 SS nuclear autoantigen 1 gene DOID:1826 epilepsy ISO RGD:1321056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12077782 SSNA1 SS nuclear autoantigen 1 gene DOID:630 genetic disease ISO RGD:1321056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077782 SSNA1 SS nuclear autoantigen 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1321056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12077789 NARF nuclear prelamin A recognition factor gene DOID:630 genetic disease ISO RGD:1605690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077790 FSTL4 follistatin like 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1316293 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12077790 FSTL4 follistatin like 4 gene DOID:630 genetic disease ISO RGD:1316293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077790 FSTL4 follistatin like 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12077790 FSTL4 follistatin like 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316293 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12077824 VEGFC vascular endothelial growth factor C gene DOID:0001816 angiosarcoma ISO RGD:732214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 12077824 VEGFC vascular endothelial growth factor C gene DOID:0002116 pterygium ISO RGD:732214 D RGD:9068941 20200609 RGD mRNA:increased expression:bulbar conjunctiva: PMID:22801834|REF_RGD_ID:8548457 12077824 VEGFC vascular endothelial growth factor C gene DOID:0050580 hereditary lymphedema ISO RGD:732215 D RGD:9068941 20220825 MouseDO OMIM:153100 | OMIM:153200 | OMIM:247440 | OMIM:611944 | OMIM:613480 | OMIM:615907 12077824 VEGFC vascular endothelial growth factor C gene DOID:0070209 hereditary lymphedema ID ISO RGD:732214 D RGD:7240710 20180130 OMIM 12077824 VEGFC vascular endothelial growth factor C gene DOID:0070209 hereditary lymphedema ID ISO RGD:732214 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lymphedema, hereditary, ID PMID:23410910|PMID:24744435|PMID:25741868|PMID:30071673 12077824 VEGFC vascular endothelial growth factor C gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732214 D RGD:9068941 20200609 RGD PMID:17094484|REF_RGD_ID:2315482 12077824 VEGFC vascular endothelial growth factor C gene DOID:1324 lung cancer ISO RGD:732214 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12077824 VEGFC vascular endothelial growth factor C gene DOID:1909 melanoma ISO RGD:732214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17562445 12077824 VEGFC vascular endothelial growth factor C gene DOID:1936 atherosclerosis ISO RGD:732215 D RGD:9068941 20200609 RGD associated with hypercholesterolemia;protein:increased expression:serum: PMID:22206010|REF_RGD_ID:7483588 12077824 VEGFC vascular endothelial growth factor C gene DOID:2154 nephroblastoma disease_progression ISO RGD:732214 D RGD:9068941 20200609 RGD PMID:17257131|REF_RGD_ID:2315481 12077824 VEGFC vascular endothelial growth factor C gene DOID:234 colon adenocarcinoma ISO RGD:619800 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:18424890|REF_RGD_ID:2315488 12077824 VEGFC vascular endothelial growth factor C gene DOID:2394 ovarian cancer disease_progression ISO RGD:732214 D RGD:9068941 20200609 RGD PMID:19911196|REF_RGD_ID:2315470 12077824 VEGFC vascular endothelial growth factor C gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:732214 D RGD:9068941 20200609 RGD PMID:19885590|REF_RGD_ID:2315471 12077824 VEGFC vascular endothelial growth factor C gene DOID:3113 papillary carcinoma disease_progression ISO RGD:732214 D RGD:9068941 20200609 RGD associated with thyroid diseases;mRNA:increased expression:thyroid gland: PMID:12203051|REF_RGD_ID:7483611 12077824 VEGFC vascular endothelial growth factor C gene DOID:3459 breast carcinoma ISO RGD:732214 D RGD:9068941 20200609 RGD PMID:19382240|REF_RGD_ID:2315477 12077824 VEGFC vascular endothelial growth factor C gene DOID:4074 pancreatic adenocarcinoma exacerbates ISO RGD:732214 D RGD:9068941 20221027 RGD protein:increased expression:pancreas (human) PMID:22082308|REF_RGD_ID:155630643 12077824 VEGFC vascular endothelial growth factor C gene DOID:4450 renal cell carcinoma ISO RGD:732214 D RGD:9068941 20200609 RGD PMID:19500329|REF_RGD_ID:2315476 12077824 VEGFC vascular endothelial growth factor C gene DOID:5082 liver cirrhosis ISO RGD:732214 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:18544126|REF_RGD_ID:15003200 12077824 VEGFC vascular endothelial growth factor C gene DOID:630 genetic disease ISO RGD:732214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077824 VEGFC vascular endothelial growth factor C gene DOID:684 hepatocellular carcinoma ISO RGD:732214 D RGD:9068941 20200609 RGD associated with liver cirrhosis; protein:increased expression:liver: PMID:18544126|REF_RGD_ID:15003200 12077824 VEGFC vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis ISO RGD:732214 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:19923084|REF_RGD_ID:2315469 12077824 VEGFC vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis ISO RGD:732214 D RGD:9068941 20200609 RGD associated with Carcinoma, Transitional Cell;protein:increased expression:urinary bladder PMID:17034609|REF_RGD_ID:2315484 12077824 VEGFC vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis ISO RGD:732214 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms PMID:19589137|REF_RGD_ID:2315475 12077824 VEGFC vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis ISO RGD:732214 D RGD:9068941 20200609 RGD associated with Lymphatic Metastasis; PMID:15289890|REF_RGD_ID:7488946 12077824 VEGFC vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis ISO RGD:732214 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:19608016|REF_RGD_ID:2315474 12077824 VEGFC vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:732214 D RGD:9068941 20200609 RGD associated with thyroid diseases;mRNA:increased expression:thyroid gland: PMID:12203051|REF_RGD_ID:7483611 12077824 VEGFC vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis exacerbates ISO RGD:732214 D RGD:9068941 20221027 RGD associated with pancreatic adenocarcinoma;protein:increased expression:pancreas (human) PMID:18061373|REF_RGD_ID:155630642 12077824 VEGFC vascular endothelial growth factor C gene DOID:9002801 Recurrence ISO RGD:732214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26124351 12077824 VEGFC vascular endothelial growth factor C gene DOID:9004009 Reperfusion Injury ISO RGD:619800 D RGD:9068941 20200609 RGD PMID:18704465|REF_RGD_ID:2315487 12077824 VEGFC vascular endothelial growth factor C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12077824 VEGFC vascular endothelial growth factor C gene DOID:9005873 Tongue Neoplasms disease_progression ISO RGD:732214 D RGD:9068941 20200609 RGD PMID:15289890|REF_RGD_ID:7488946 12077824 VEGFC vascular endothelial growth factor C gene DOID:9008939 Breast Neoplasms ISO RGD:732214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18509974|PMID:26124351 12077835 OR5D18 olfactory receptor family 5 subfamily D member 18 gene DOID:1059 intellectual disability ISO RGD:1345975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12077835 OR5D18 olfactory receptor family 5 subfamily D member 18 gene DOID:630 genetic disease ISO RGD:1345975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077841 OR56A4B olfactory receptor family 56 subfamily A member 4B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1347825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12077841 OR56A4B olfactory receptor family 56 subfamily A member 4B gene DOID:630 genetic disease ISO RGD:1347825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077846 CPXM1 carboxypeptidase X, M14 family member 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1315836 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12077846 CPXM1 carboxypeptidase X, M14 family member 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1315836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12077846 CPXM1 carboxypeptidase X, M14 family member 1 gene DOID:630 genetic disease ISO RGD:1315836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077864 OR6C69 olfactory receptor family 6 subfamily C member 69 gene DOID:630 genetic disease ISO RGD:1346205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077867 THSD4 thrombospondin type 1 domain containing 4 gene DOID:2717 Bloom syndrome ISO RGD:1605622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12077867 THSD4 thrombospondin type 1 domain containing 4 gene DOID:303 substance-related disorder ISO RGD:1605622 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12077867 THSD4 thrombospondin type 1 domain containing 4 gene DOID:630 genetic disease ISO RGD:1605622 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12077867 THSD4 thrombospondin type 1 domain containing 4 gene DOID:9008628 Familial Thoracic Aortic Aneurysm 12 ISO RGD:1605622 D RGD:7240710 20220413 OMIM 12077867 THSD4 thrombospondin type 1 domain containing 4 gene DOID:9008628 Familial Thoracic Aortic Aneurysm 12 ISO RGD:1605622 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 12 PMID:25741868|PMID:32855533 12077867 THSD4 thrombospondin type 1 domain containing 4 gene DOID:9256 colorectal cancer ISO RGD:1605622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12077883 CRYBA2 crystallin beta A2 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1343426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12077883 CRYBA2 crystallin beta A2 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1343426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12077883 CRYBA2 crystallin beta A2 gene DOID:0110237 cataract 42 ISO RGD:1343426 D RGD:7240710 20180130 OMIM 12077883 CRYBA2 crystallin beta A2 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1343426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12077883 CRYBA2 crystallin beta A2 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1343426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12077883 CRYBA2 crystallin beta A2 gene DOID:630 genetic disease ISO RGD:1343426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077883 CRYBA2 crystallin beta A2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12077892 OR10J5 olfactory receptor 10J5 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1347047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12077892 OR10J5 olfactory receptor 10J5 gene DOID:1540 parathyroid carcinoma ISO RGD:1347047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12077892 OR10J5 olfactory receptor 10J5 gene DOID:630 genetic disease ISO RGD:1347047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077892 OR10J5 olfactory receptor 10J5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12077895 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:0050868 hepatocellular adenoma ISO RGD:1344163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25656644 12077895 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1344163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941|PMID:25656644 12077895 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1344163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22726846 12077895 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1344163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12077895 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:13580 cholestasis disease_progression ISO RGD:621400 D RGD:9068941 20200609 RGD PMID:29204052|REF_RGD_ID:13782189 12077895 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1344163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12077895 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:630 genetic disease ISO RGD:1344163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077895 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1344163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17172636|PMID:24769335|PMID:25656644 12077895 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:9005369 Hepatomegaly ISO RGD:1344163 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:23607986|PMID:23721867|PMID:25656644|PMID:32320717|PMID:32435917 12077895 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:621400 D RGD:9068941 20200609 RGD PMID:20636876|REF_RGD_ID:9835393 12077895 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:9006646 Metabolic Syndrome ISO RGD:1344163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20869355 12077895 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1344163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941|PMID:19482888|PMID:22293087|PMID:24449422|PMID:28218408 12077895 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14742670|PMID:25656644|PMID:28058446 12077895 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12077895 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:9351 diabetes mellitus ISO RGD:1344163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20869355 12077895 NR1I3 nuclear receptor subfamily 1 group I member 3 gene DOID:9970 obesity ISO RGD:1344163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20869355 12077911 GYS1 glycogen synthase 1 gene DOID:0110737 neurodegeneration with brain iron accumulation 3 ISO RGD:1320086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroferritinopathy PMID:17182944|PMID:18414213|PMID:25741868|PMID:28492532 12077911 GYS1 glycogen synthase 1 gene DOID:0111076 progressive familial heart block type IB ISO RGD:1320086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 12077911 GYS1 glycogen synthase 1 gene DOID:0111256 hyperferritinemia-cataract syndrome ISO RGD:1320086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts PMID:17182944|PMID:18414213|PMID:25741868|PMID:28492532 12077911 GYS1 glycogen synthase 1 gene DOID:1287 cardiovascular system disease severity ISO RGD:1320086 D RGD:9068941 20200609 RGD PMID:17356695|REF_RGD_ID:2313172 12077911 GYS1 glycogen synthase 1 gene DOID:630 genetic disease ISO RGD:1320086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12077911 GYS1 glycogen synthase 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1320086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm PMID:17182944|PMID:18414213|PMID:25741868|PMID:28492532 12077911 GYS1 glycogen synthase 1 gene DOID:9004878 L-Ferritin Deficiency ISO RGD:1320086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: L-ferritin deficiency PMID:17182944|PMID:18414213|PMID:25741868|PMID:28492532 12077911 GYS1 glycogen synthase 1 gene DOID:9005648 Glycogen Storage Disease 0, Muscle ISO RGD:1320086 D RGD:7240710 20180130 OMIM 12077911 GYS1 glycogen synthase 1 gene DOID:9005648 Glycogen Storage Disease 0, Muscle ISO RGD:1320086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GSD 0b | ClinVar Annotator: match by term: Glycogen storage disease 0, muscle | ClinVar Annotator: match by term: Muscle glycogen synthase deficiency PMID:10102713|PMID:16199547|PMID:17182944|PMID:17576681|PMID:17928598|PMID:18414213|PMID:19699667|PMID:21958591|PMID:25741868|PMID:28492532|PMID:34906502|PMID:9267990|PMID:9389424|PMID:9536098 12077911 GYS1 glycogen synthase 1 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:1320086 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:missense mutation:exon:p.M416V (human) PMID:9267990|REF_RGD_ID:2313176 12077942 IRX1 iroquois homeobox 1 gene DOID:630 genetic disease ISO RGD:1349465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077942 IRX1 iroquois homeobox 1 gene DOID:850 lung disease ISO RGD:1349465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21238641 12077966 LOC102151833 keratin-associated protein 10-7-like gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1354095 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 12077966 LOC102151833 keratin-associated protein 10-7-like gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1354095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12077966 LOC102151833 keratin-associated protein 10-7-like gene DOID:0110266 cataract 9 multiple types ISO RGD:1354095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12077966 LOC102151833 keratin-associated protein 10-7-like gene DOID:12849 autistic disorder ISO RGD:1354095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12077966 LOC102151833 keratin-associated protein 10-7-like gene DOID:2661 myoepithelioma ISO RGD:1354095 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12077966 LOC102151833 keratin-associated protein 10-7-like gene DOID:630 genetic disease ISO RGD:1354095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12077966 LOC102151833 keratin-associated protein 10-7-like gene DOID:891 progressive myoclonus epilepsy ISO RGD:1354095 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12077966 LOC102151833 keratin-associated protein 10-7-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12077966 LOC102151833 keratin-associated protein 10-7-like gene DOID:9263 homocystinuria ISO RGD:1354095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12077966 LOC102151833 keratin-associated protein 10-7-like gene DOID:9562 primary ciliary dyskinesia ISO RGD:1354095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12078060 KERA keratocan gene DOID:0060287 cornea plana ISO RGD:1314079 D RGD:9068941 20220825 MouseDO OMIM:121400 | OMIM:217300 12078060 KERA keratocan gene DOID:10126 keratoconus ISO RGD:1314078 D RGD:9068941 20200609 RGD RNA,protein:increased_expression:corneal_stroma:specific to keratoconus corneas PMID:11683372|REF_RGD_ID:1600400 12078060 KERA keratocan gene DOID:11342 arcus senilis ISO RGD:1314078 D RGD:9068941 20200609 RGD autosomal recessive cornea plana, OMIM:217300 DNA:point_mutation:CDS:amino acid N247S PMID:10802664|REF_RGD_ID:1600335 12078060 KERA keratocan gene DOID:2566 corneal dystrophy ISO RGD:1314078 D RGD:9068941 20200609 RGD autosomal recessive cornea plana, OMIM:217300 DNA:point_mutation:CDS:amino acid N247S PMID:10802664|REF_RGD_ID:1600335 12078060 KERA keratocan gene DOID:630 genetic disease ISO RGD:1314078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12078060 KERA keratocan gene DOID:9002263 Cornea Plana 2 ISO RGD:1314078 D RGD:7240710 20180130 OMIM 12078060 KERA keratocan gene DOID:9002263 Cornea Plana 2 ISO RGD:1314078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cornea plana 2 PMID:10802664|PMID:11726611|PMID:11754099|PMID:15370545|PMID:16157807|PMID:16234475|PMID:17011957|PMID:23834557|PMID:25741868|PMID:28492532|PMID:28799822|PMID:31059048 12078076 BYSL bystin like gene DOID:0050444 infantile Refsum disease ISO RGD:1352999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12078076 BYSL bystin like gene DOID:630 genetic disease ISO RGD:1352999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078076 BYSL bystin like gene DOID:9000998 Brain Injuries ISO RGD:727959 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:substantia nigra, striatum (rat) PMID:15305856|REF_RGD_ID:2316201 12078076 BYSL bystin like gene DOID:905 Zellweger syndrome ISO RGD:1352999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12078088 HSF1 heat shock transcription factor 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730995 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24256636 12078088 HSF1 heat shock transcription factor 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:730995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12078088 HSF1 heat shock transcription factor 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:730995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12078088 HSF1 heat shock transcription factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:620913 D RGD:9068941 20200609 RGD protein:decreased expression:cerebellum (rat) PMID:23665061|REF_RGD_ID:10402771 12078088 HSF1 heat shock transcription factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:730996 D RGD:9068941 20200609 RGD protein:altered localization:promoter (mouse) PMID:24849358|REF_RGD_ID:10402385 12078088 HSF1 heat shock transcription factor 1 gene DOID:11383 cryptorchidism ISO RGD:620913 D RGD:9068941 20200609 RGD protein:increased expression:testis, spermatocyte, nucleus (rat) PMID:21480429|REF_RGD_ID:10402945 12078088 HSF1 heat shock transcription factor 1 gene DOID:12858 Huntington's disease ISO RGD:730995 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:16051598|REF_RGD_ID:10402372 12078088 HSF1 heat shock transcription factor 1 gene DOID:12858 Huntington's disease ISO RGD:730996 D RGD:9068941 20200609 RGD protein:decreased expression:liver (mouse) PMID:19443488|REF_RGD_ID:10402387 12078088 HSF1 heat shock transcription factor 1 gene DOID:12858 Huntington's disease treatment ISO RGD:730996 D RGD:9068941 20200609 RGD PMID:24381308|REF_RGD_ID:10402386 12078088 HSF1 heat shock transcription factor 1 gene DOID:14330 Parkinson's disease ISO RGD:620913 D RGD:9068941 20200609 RGD protein:decreased expression:midbrain (rat) PMID:24296154|REF_RGD_ID:10402753 12078088 HSF1 heat shock transcription factor 1 gene DOID:14330 Parkinson's disease treatment ISO RGD:620913 D RGD:9068941 20200609 RGD PMID:24852355|REF_RGD_ID:10402545 12078088 HSF1 heat shock transcription factor 1 gene DOID:14566 disease of cellular proliferation ISO RGD:730995 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22885793 12078088 HSF1 heat shock transcription factor 1 gene DOID:224 transient cerebral ischemia ISO RGD:620913 D RGD:9068941 20200609 RGD protein:increased expression:brain, nucleus (rat) PMID:26070787|REF_RGD_ID:10402389 12078088 HSF1 heat shock transcription factor 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:620913 D RGD:9068941 20200609 RGD associated with Heart Arrest PMID:23528677|REF_RGD_ID:10402772 12078088 HSF1 heat shock transcription factor 1 gene DOID:4621 holoprosencephaly ISO RGD:730995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12078088 HSF1 heat shock transcription factor 1 gene DOID:6000 congestive heart failure ISO RGD:620913 D RGD:9068941 20200609 RGD protein:altered localization:heart left ventricle (rat) PMID:24285117|REF_RGD_ID:10402754 12078088 HSF1 heat shock transcription factor 1 gene DOID:630 genetic disease ISO RGD:730995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078088 HSF1 heat shock transcription factor 1 gene DOID:767 muscular atrophy treatment ISO RGD:620913 D RGD:9068941 20200609 RGD PMID:21983076|REF_RGD_ID:10402941 12078088 HSF1 heat shock transcription factor 1 gene DOID:9000099 Experimental Colitis ISO RGD:620913 D RGD:9068941 20200609 RGD protein:increased acetylation:colon (rat) PMID:25608526|REF_RGD_ID:10402402 12078088 HSF1 heat shock transcription factor 1 gene DOID:9000972 Fever ISO RGD:620913 D RGD:9068941 20200609 RGD associated with Endotoxemia;protein:altered localization:preoptic area, anterior hypothalamus, nucleus (rat) PMID:22427437|REF_RGD_ID:10402781 12078088 HSF1 heat shock transcription factor 1 gene DOID:9002395 Hypothermia ISO RGD:620913 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland ventral lobe (rat) PMID:25996932|REF_RGD_ID:10402397 12078088 HSF1 heat shock transcription factor 1 gene DOID:9002669 Hypoxia ISO RGD:620913 D RGD:9068941 20200609 RGD protein:increased expression:gastric mucosa (rat) PMID:22156356|REF_RGD_ID:10402813 12078088 HSF1 heat shock transcription factor 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:620913 D RGD:9068941 20200609 RGD PMID:25804640|REF_RGD_ID:10402399 12078088 HSF1 heat shock transcription factor 1 gene DOID:9004562 Smoke Inhalation Injury treatment ISO RGD:620913 D RGD:9068941 20200609 RGD PMID:23499678|REF_RGD_ID:10402773 12078088 HSF1 heat shock transcription factor 1 gene DOID:9004649 Heat Stroke treatment ISO RGD:620913 D RGD:9068941 20200609 RGD PMID:23219797|REF_RGD_ID:10402774 12078088 HSF1 heat shock transcription factor 1 gene DOID:9005930 Endotoxemia treatment ISO RGD:620913 D RGD:9068941 20200609 RGD PMID:25571843|REF_RGD_ID:10402404 12078088 HSF1 heat shock transcription factor 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:620913 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:23102208|REF_RGD_ID:10402775 12078088 HSF1 heat shock transcription factor 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:730996 D RGD:9068941 20200609 RGD PMID:22426029|REF_RGD_ID:10402789 12078088 HSF1 heat shock transcription factor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730996 D RGD:9068941 20200609 RGD protein:increased expression:heart (mouse) PMID:24496227|REF_RGD_ID:10402557 12078110 PDZK1IP1 PDZK1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:737282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078110 PDZK1IP1 PDZK1 interacting protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737282 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12078126 ETFB electron transfer flavoprotein subunit beta gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1347524 D RGD:7240710 20211006 OMIM 12078126 ETFB electron transfer flavoprotein subunit beta gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1347524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glutaric acidemia IIb | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:12815589|PMID:16199547|PMID:16510302|PMID:17576681|PMID:18289905|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22588007|PMID:23785301|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30626930|PMID:31418342|PMID:31589614|PMID:7912128|PMID:9350306|PMID:9536098 12078126 ETFB electron transfer flavoprotein subunit beta gene DOID:630 genetic disease ISO RGD:1347524 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12078126 ETFB electron transfer flavoprotein subunit beta gene DOID:784 chronic kidney disease ISO RGD:1347524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 12078145 JMJD1C jumonji domain containing 1C gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1320591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 12078145 JMJD1C jumonji domain containing 1C gene DOID:0060041 autism spectrum disorder ISO RGD:1320591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12078145 JMJD1C jumonji domain containing 1C gene DOID:0060169 benign familial infantile epilepsy ISO RGD:1320591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Benign familial infantile epilepsy PMID:25741868|PMID:28492532 12078145 JMJD1C jumonji domain containing 1C gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1320591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12078145 JMJD1C jumonji domain containing 1C gene DOID:12849 autistic disorder ISO RGD:1320591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17290275 12078145 JMJD1C jumonji domain containing 1C gene DOID:308 early myoclonic encephalopathy ISO RGD:1320591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:16199547|PMID:17576681|PMID:22495311|PMID:25741868|PMID:26181491|PMID:28166811|PMID:28492532|PMID:31954878|PMID:9536098 12078145 JMJD1C jumonji domain containing 1C gene DOID:630 genetic disease ISO RGD:1320591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12078145 JMJD1C jumonji domain containing 1C gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1320591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12078145 JMJD1C jumonji domain containing 1C gene DOID:687 hepatoblastoma ISO RGD:1320591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 12078145 JMJD1C jumonji domain containing 1C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320591 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: JMJD1C-associated Neurodevelopmental Disorder | ClinVar Annotator: match by term: JMJD1C-related Neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26181491|PMID:28492532|PMID:31954878 12078145 JMJD1C jumonji domain containing 1C gene DOID:9008826 YOU-HOOVER-FONG SYNDROME ISO RGD:1320591 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: TELO2-related intellectual disability-neurodevelopmental disorder PMID:25741868|PMID:31954878 12078186 CD3D CD3 delta subunit of T-cell receptor complex gene DOID:0060017 CD3epsilon deficiency ISO RGD:736987 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12078186 CD3D CD3 delta subunit of T-cell receptor complex gene DOID:0060837 isolated microphthalmia 5 ISO RGD:736987 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12078186 CD3D CD3 delta subunit of T-cell receptor complex gene DOID:0080690 RASopathy ISO RGD:736987 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12078186 CD3D CD3 delta subunit of T-cell receptor complex gene DOID:0081330 glycogen storage disease Ib ISO RGD:736987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12078186 CD3D CD3 delta subunit of T-cell receptor complex gene DOID:0110651 long QT syndrome 10 ISO RGD:736987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12078186 CD3D CD3 delta subunit of T-cell receptor complex gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:736987 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12078186 CD3D CD3 delta subunit of T-cell receptor complex gene DOID:0111971 immunodeficiency 18 ISO RGD:736987 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12078186 CD3D CD3 delta subunit of T-cell receptor complex gene DOID:0111972 immunodeficiency 19 ISO RGD:736987 D RGD:7240710 20180130 OMIM 12078186 CD3D CD3 delta subunit of T-cell receptor complex gene DOID:0111972 immunodeficiency 19 ISO RGD:736987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:10935641|PMID:14602880|PMID:15546002|PMID:16199547|PMID:1635567|PMID:17277165|PMID:17576681|PMID:21883749|PMID:21926461|PMID:22039266|PMID:23336327|PMID:24216686|PMID:24290291|PMID:24910257|PMID:25344390|PMID:25373860|PMID:25741868|PMID:26822028|PMID:27807805|PMID:28492532|PMID:31031743|PMID:8490660|PMID:9536098 12078186 CD3D CD3 delta subunit of T-cell receptor complex gene DOID:0111973 immunodeficiency 17 ISO RGD:736987 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12078186 CD3D CD3 delta subunit of T-cell receptor complex gene DOID:1059 intellectual disability ISO RGD:736987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12078186 CD3D CD3 delta subunit of T-cell receptor complex gene DOID:12236 primary biliary cholangitis ISO RGD:736987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 12078186 CD3D CD3 delta subunit of T-cell receptor complex gene DOID:3042 allergic contact dermatitis ISO RGD:736987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17597826 12078186 CD3D CD3 delta subunit of T-cell receptor complex gene DOID:3602 toxic encephalopathy ISO RGD:736987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12078186 CD3D CD3 delta subunit of T-cell receptor complex gene DOID:409 liver disease ISO RGD:736987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12078186 CD3D CD3 delta subunit of T-cell receptor complex gene DOID:627 severe combined immunodeficiency ISO RGD:736987 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12078186 CD3D CD3 delta subunit of T-cell receptor complex gene DOID:630 genetic disease ISO RGD:736987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12078186 CD3D CD3 delta subunit of T-cell receptor complex gene DOID:9000795 Immunodeficiency 104 ISO RGD:736987 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Immunodeficiency 104 PMID:28492532 12078186 CD3D CD3 delta subunit of T-cell receptor complex gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:736987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12078186 CD3D CD3 delta subunit of T-cell receptor complex gene DOID:9007661 Dwarfism ISO RGD:736987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12078195 RPL5 ribosomal protein L5 gene DOID:0111879 Diamond-Blackfan anemia 6 ISO RGD:731697 D RGD:7240710 20180130 OMIM 12078195 RPL5 ribosomal protein L5 gene DOID:0111879 Diamond-Blackfan anemia 6 ISO RGD:731697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 PMID:19061985|PMID:19191325|PMID:19773262|PMID:20054847|PMID:20960466|PMID:23718193|PMID:23744582|PMID:25741868|PMID:25946618|PMID:28492532|PMID:28694211|PMID:28991257|PMID:30183354|PMID:30503522 12078195 RPL5 ribosomal protein L5 gene DOID:0111895 Diamond-Blackfan anemia 1 ISO RGD:731697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 PMID:19061985|PMID:19191325|PMID:19773262|PMID:20054847|PMID:20960466|PMID:23718193|PMID:25741868|PMID:28492532 12078195 RPL5 ribosomal protein L5 gene DOID:0112131 severe congenital neutropenia 2 ISO RGD:731697 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant PMID:28492532 12078195 RPL5 ribosomal protein L5 gene DOID:12449 aplastic anemia ISO RGD:731697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:25741868 12078195 RPL5 ribosomal protein L5 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:731697 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16199547|PMID:17576681|PMID:19061985|PMID:19191325|PMID:19773262|PMID:20054847|PMID:20378560|PMID:20960466|PMID:22689679|PMID:23718193|PMID:23744582|PMID:25741868|PMID:25946618|PMID:27432187|PMID:28492532|PMID:28694211|PMID:28991257|PMID:30183354|PMID:30503522|PMID:33718801|PMID:9536098 12078195 RPL5 ribosomal protein L5 gene DOID:3068 glioblastoma ISO RGD:731697 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:26892688|REF_RGD_ID:11535147 12078195 RPL5 ribosomal protein L5 gene DOID:5119 ovarian cyst ISO RGD:731697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12078195 RPL5 ribosomal protein L5 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:731697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23263491 12078195 RPL5 ribosomal protein L5 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:731697 D RGD:9068941 20200609 RGD DNA:snps, insertion, deletion:cds:multiple (human) PMID:23263491|REF_RGD_ID:11535135 12078195 RPL5 ribosomal protein L5 gene DOID:630 genetic disease ISO RGD:731697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078208 HHAT hedgehog acyltransferase gene DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome ISO RGD:1351064 D RGD:7240710 20201223 OMIM 12078208 HHAT hedgehog acyltransferase gene DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome ISO RGD:1351064 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chondrodysplasia-pseudohermaphroditism syndrome PMID:24784881|PMID:25741868|PMID:28492532|PMID:30912300 12078208 HHAT hedgehog acyltransferase gene DOID:1540 parathyroid carcinoma ISO RGD:1351064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12078208 HHAT hedgehog acyltransferase gene DOID:630 genetic disease ISO RGD:1351064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15075292|PMID:18534984|PMID:23055936|PMID:24784881 12078208 HHAT hedgehog acyltransferase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12078286 PAX4 paired box 4 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1347682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:11723072|PMID:15509590|PMID:15596543|PMID:16423628|PMID:18414213|PMID:21263211|PMID:25741868|PMID:25951767|PMID:27334367|PMID:28492532|PMID:31264968|PMID:32801813|PMID:33031055 12078286 PAX4 paired box 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1347682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11723072|PMID:15596543|PMID:16423628|PMID:18414213|PMID:21263211|PMID:25741868|PMID:25951767|PMID:27334367|PMID:28492532|PMID:31264968|PMID:32801813|PMID:33031055 12078286 PAX4 paired box 4 gene DOID:0111107 maturity-onset diabetes of the young type 9 ISO RGD:1347682 D RGD:7240710 20230517 OMIM 12078286 PAX4 paired box 4 gene DOID:0111107 maturity-onset diabetes of the young type 9 ISO RGD:1347682 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 9 PMID:15509590|PMID:17426099|PMID:25741868|PMID:28492532 12078286 PAX4 paired box 4 gene DOID:1837 diabetic ketoacidosis ISO RGD:1347682 D RGD:7240710 20230517 OMIM 12078286 PAX4 paired box 4 gene DOID:1837 diabetic ketoacidosis ISO RGD:1347682 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, ketosis-prone | ClinVar Annotator: match by term: Diabetes mellitus, ketosis-prone, susceptibility to PMID:15509590|PMID:17576681|PMID:18414213|PMID:25741868|PMID:28492532|PMID:9536098 12078286 PAX4 paired box 4 gene DOID:1909 melanoma ISO RGD:1347682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18949370 12078286 PAX4 paired box 4 gene DOID:4195 hyperglycemia ISO RGD:1347682 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyperglycemia PMID:15509590|PMID:25741868|PMID:28492532 12078286 PAX4 paired box 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12078286 PAX4 paired box 4 gene DOID:630 genetic disease ISO RGD:1347682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12078286 PAX4 paired box 4 gene DOID:9351 diabetes mellitus ISO RGD:1347682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:15509590|PMID:18414213|PMID:25741868|PMID:28492532 12078286 PAX4 paired box 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347682 D RGD:7240710 20230517 OMIM 12078286 PAX4 paired box 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11723072|PMID:15596543|PMID:16423628|PMID:18414213|PMID:21263211|PMID:25741868|PMID:25951767|PMID:27334367|PMID:28492532|PMID:31264968|PMID:32801813|PMID:33031055 12078286 PAX4 paired box 4 gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:1347682 D RGD:9068941 20200609 RGD DNA:mutation: :p.R121W (human) PMID:12604352|REF_RGD_ID:2311635 12078286 PAX4 paired box 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1347682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12078286 PAX4 paired box 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1347682 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R133W (human) PMID:15509590|REF_RGD_ID:2311634 12078286 PAX4 paired box 4 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1347682 D RGD:9068941 20200609 RGD PMID:15834548|REF_RGD_ID:2311633 12078298 IL17RE interleukin 17 receptor E gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1602300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 12078298 IL17RE interleukin 17 receptor E gene DOID:2843 long QT syndrome ISO RGD:1602300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12078298 IL17RE interleukin 17 receptor E gene DOID:630 genetic disease ISO RGD:1602300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078298 IL17RE interleukin 17 receptor E gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12078298 IL17RE interleukin 17 receptor E gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1602300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 12078298 IL17RE interleukin 17 receptor E gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1602300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12078342 IRS1 insulin receptor substrate 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9466558 12078342 IRS1 insulin receptor substrate 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:2922 D RGD:9068941 20200609 RGD PMID:20846698|REF_RGD_ID:6483014 12078342 IRS1 insulin receptor substrate 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:733473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11775217|PMID:12679424|PMID:24033266|PMID:25741868|PMID:28492532 12078342 IRS1 insulin receptor substrate 1 gene DOID:10652 Alzheimer's disease ISO RGD:10816 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:hippocampus PMID:22476196|REF_RGD_ID:6482861 12078342 IRS1 insulin receptor substrate 1 gene DOID:10652 Alzheimer's disease ISO RGD:2922 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus: PMID:22527777|REF_RGD_ID:10045939 12078342 IRS1 insulin receptor substrate 1 gene DOID:10652 Alzheimer's disease ISO RGD:733473 D RGD:9068941 20200609 RGD protein:increased expression, increased serine phosphorylation, increased tyrosine phosphorylation:hippocampus CA1 PMID:22476197|REF_RGD_ID:6482860 12078342 IRS1 insulin receptor substrate 1 gene DOID:10652 Alzheimer's disease severity ISO RGD:733473 D RGD:9068941 20200609 RGD DNA:SNP:cds:rs1801278(human) PMID:24589556|REF_RGD_ID:10045932 12078342 IRS1 insulin receptor substrate 1 gene DOID:10652 Alzheimer's disease severity ISO RGD:733473 D RGD:9068941 20200609 RGD protein:altered expression:temporal cortex: PMID:18479783|REF_RGD_ID:10045894 12078342 IRS1 insulin receptor substrate 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:10816 D RGD:9068941 20200609 RGD PMID:23011726|PMID:23660953|REF_RGD_ID:10045935|REF_RGD_ID:10403036 12078342 IRS1 insulin receptor substrate 1 gene DOID:11476 osteoporosis ISO RGD:2922 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:multiple PMID:22820932|REF_RGD_ID:7207063 12078342 IRS1 insulin receptor substrate 1 gene DOID:1168 familial hyperlipidemia ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10591678 12078342 IRS1 insulin receptor substrate 1 gene DOID:2018 hyperinsulinism ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19734900 12078342 IRS1 insulin receptor substrate 1 gene DOID:3393 coronary artery disease ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10591678 12078342 IRS1 insulin receptor substrate 1 gene DOID:3393 coronary artery disease ISO RGD:733473 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:G972R PMID:10591678|REF_RGD_ID:1624974 12078342 IRS1 insulin receptor substrate 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30594912 12078342 IRS1 insulin receptor substrate 1 gene DOID:630 genetic disease ISO RGD:733473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078342 IRS1 insulin receptor substrate 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1311924|PMID:23958494 12078342 IRS1 insulin receptor substrate 1 gene DOID:783 end stage renal disease ISO RGD:2922 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:aorta PMID:22942179|REF_RGD_ID:7207055 12078342 IRS1 insulin receptor substrate 1 gene DOID:9000528 Coronary Disease ISO RGD:733473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease, susceptibility to PMID:10084586|PMID:10430617|PMID:10591678|PMID:10843189|PMID:12843189|PMID:1311924|PMID:14671192|PMID:14707024|PMID:15240653|PMID:7623569|PMID:8104271|PMID:8647950 12078342 IRS1 insulin receptor substrate 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2922 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:growth plate: PMID:22995397|REF_RGD_ID:8661261 12078342 IRS1 insulin receptor substrate 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15678496 12078342 IRS1 insulin receptor substrate 1 gene DOID:9004086 AIDS Dementia Complex severity ISO RGD:733473 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte PMID:22629383|REF_RGD_ID:10403033 12078342 IRS1 insulin receptor substrate 1 gene DOID:9004484 Sepsis ISO RGD:2922 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation, increased serine phosphorylation:gastrocnemius PMID:19781177|REF_RGD_ID:6482862 12078342 IRS1 insulin receptor substrate 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2922 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:multiple PMID:22820932|REF_RGD_ID:7207063 12078342 IRS1 insulin receptor substrate 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138235 12078342 IRS1 insulin receptor substrate 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2922 D RGD:9068941 20200609 RGD PMID:22983684|REF_RGD_ID:7207061 12078342 IRS1 insulin receptor substrate 1 gene DOID:9005930 Endotoxemia ISO RGD:10816 D RGD:9068941 20200609 RGD protein:increased tyrosine nitration, decreased tyrosine phosphorylation:skeletal muscle PMID:21206533|REF_RGD_ID:6483008 12078342 IRS1 insulin receptor substrate 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:2922 D RGD:9068941 20200609 RGD protein:decreased expression:skeletal muscle PMID:10842668|REF_RGD_ID:6482864 12078342 IRS1 insulin receptor substrate 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23748240 12078342 IRS1 insulin receptor substrate 1 gene DOID:9007692 Insulin Resistance ISO RGD:733473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Insulin resistance, susceptibility to PMID:10084586|PMID:10430617|PMID:10591678|PMID:10843189|PMID:12843189|PMID:1311924|PMID:14671192|PMID:14707024|PMID:15240653|PMID:7623569|PMID:8104271|PMID:8647950 12078342 IRS1 insulin receptor substrate 1 gene DOID:9351 diabetes mellitus ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10591678 12078342 IRS1 insulin receptor substrate 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733473 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11775217|PMID:12679424|PMID:24033266|PMID:25741868|PMID:28492532 12078342 IRS1 insulin receptor substrate 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:733473 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.P512A, p.G971R (human) PMID:15561966|REF_RGD_ID:6482863 12078342 IRS1 insulin receptor substrate 1 gene DOID:9970 obesity ISO RGD:2922 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation, increased serine phosphorylation:skeletal muscle PMID:22982470|REF_RGD_ID:7207062 12078342 IRS1 insulin receptor substrate 1 gene DOID:9970 obesity ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23954404 12078348 LRRC14B leucine rich repeat containing 14B gene DOID:630 genetic disease ISO RGD:3418715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078354 DISP1 dispatched RND transporter family member 1 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1317002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12078354 DISP1 dispatched RND transporter family member 1 gene DOID:0110876 holoprosencephaly 7 ISO RGD:1317002 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 7 PMID:25741868 12078354 DISP1 dispatched RND transporter family member 1 gene DOID:10485 esophageal atresia ISO RGD:1317002 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Esophageal atresia PMID:25741868 12078354 DISP1 dispatched RND transporter family member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1317002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12078354 DISP1 dispatched RND transporter family member 1 gene DOID:4621 holoprosencephaly ISO RGD:1317002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Lobar holoprosencephaly | ClinVar Annotator: match by term: Microform holoprosencephaly PMID:25741868|PMID:28492532|PMID:28640243 12078354 DISP1 dispatched RND transporter family member 1 gene DOID:630 genetic disease ISO RGD:1317002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12078354 DISP1 dispatched RND transporter family member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12078373 F2R coagulation factor II thrombin receptor gene DOID:10591 pre-eclampsia ISO RGD:735960 D RGD:9068941 20200609 RGD PMID:12161502|REF_RGD_ID:1581033 12078373 F2R coagulation factor II thrombin receptor gene DOID:10763 hypertension ISO RGD:2586 D RGD:9068941 20200609 RGD PMID:9168786|REF_RGD_ID:1581034 12078373 F2R coagulation factor II thrombin receptor gene DOID:2237 hepatitis ISO RGD:735960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21907177 12078373 F2R coagulation factor II thrombin receptor gene DOID:2316 brain ischemia ISO RGD:2586 D RGD:9068941 20200609 RGD PMID:14705148|REF_RGD_ID:1302269 12078373 F2R coagulation factor II thrombin receptor gene DOID:4724 brain edema ISO RGD:2586 D RGD:9068941 20200609 RGD associated with Cerebral Hemorrhage PMID:20541575|REF_RGD_ID:5490126 12078373 F2R coagulation factor II thrombin receptor gene DOID:5082 liver cirrhosis ISO RGD:735960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21037076 12078373 F2R coagulation factor II thrombin receptor gene DOID:630 genetic disease ISO RGD:735960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078373 F2R coagulation factor II thrombin receptor gene DOID:9000217 Stomach Neoplasms ISO RGD:735960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12078373 F2R coagulation factor II thrombin receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12078373 F2R coagulation factor II thrombin receptor gene DOID:9002170 Experimental Neoplasms ISO RGD:735960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374729 12078373 F2R coagulation factor II thrombin receptor gene DOID:9002211 Hyperalgesia ISO RGD:10556 D RGD:9068941 20200609 RGD PMID:12717003|REF_RGD_ID:7387270 12078373 F2R coagulation factor II thrombin receptor gene DOID:9002211 Hyperalgesia ISO RGD:2586 D RGD:9068941 20200609 RGD PMID:11877315|REF_RGD_ID:7387271 12078373 F2R coagulation factor II thrombin receptor gene DOID:9002211 Hyperalgesia severity ISO RGD:10556 D RGD:9068941 20200609 RGD PMID:19674841|REF_RGD_ID:7387269 12078373 F2R coagulation factor II thrombin receptor gene DOID:9002457 Experimental Arthritis severity ISO RGD:10556 D RGD:9068941 20200609 RGD PMID:19674841|REF_RGD_ID:7387269 12078373 F2R coagulation factor II thrombin receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12078373 F2R coagulation factor II thrombin receptor gene DOID:9005372 Inflammation ISO RGD:735960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008134 12078373 F2R coagulation factor II thrombin receptor gene DOID:9008114 Helicobacter Infections ISO RGD:10556 D RGD:9068941 20210115 RGD PMID:24866378|REF_RGD_ID:40924630 12078373 F2R coagulation factor II thrombin receptor gene DOID:9452 fatty liver disease ISO RGD:735960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008134|PMID:21907177|PMID:22841818 12078388 PPL periplakin gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1313581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 12078388 PPL periplakin gene DOID:630 genetic disease ISO RGD:1313581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078388 PPL periplakin gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12078416 SPSB3 splA/ryanodine receptor domain and SOCS box containing 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1603939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 12078416 SPSB3 splA/ryanodine receptor domain and SOCS box containing 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1603939 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12078416 SPSB3 splA/ryanodine receptor domain and SOCS box containing 3 gene DOID:1826 epilepsy ISO RGD:1603939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12078416 SPSB3 splA/ryanodine receptor domain and SOCS box containing 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12078416 SPSB3 splA/ryanodine receptor domain and SOCS box containing 3 gene DOID:630 genetic disease ISO RGD:1603939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078427 DCAF4 DDB1 and CUL4 associated factor 4 gene DOID:1059 intellectual disability ISO RGD:1314746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12078427 DCAF4 DDB1 and CUL4 associated factor 4 gene DOID:630 genetic disease ISO RGD:1314746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078461 BRF1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:0050871 fibroma ISO RGD:1311158 D RGD:9068941 20200609 RGD PMID:18456653|REF_RGD_ID:9586716 12078461 BRF1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:0080446 developmental and epileptic encephalopathy 66 ISO RGD:1322467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 66 PMID:25741868 12078461 BRF1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:0080898 cerebellofaciodental syndrome ISO RGD:1322467 D RGD:7240710 20180130 OMIM 12078461 BRF1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:0080898 cerebellofaciodental syndrome ISO RGD:1322467 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome PMID:25561519|PMID:25741868|PMID:27748960|PMID:28492532 12078461 BRF1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1322467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12078461 BRF1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1322467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 12078461 BRF1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:10003 sensorineural hearing loss ISO RGD:1322467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 12078461 BRF1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:1059 intellectual disability ISO RGD:1322467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12078461 BRF1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:630 genetic disease ISO RGD:1322467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25561519|PMID:25741868|PMID:28492532|PMID:33645901 12078461 BRF1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:9003936 Cardiomegaly ISO RGD:1322468 D RGD:9068941 20200609 RGD PMID:18420946|REF_RGD_ID:9686423 12078461 BRF1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:9008939 Breast Neoplasms ISO RGD:1322467 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:32198086 12078461 BRF1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:9256 colorectal cancer ISO RGD:1322467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 12078492 ACBD4 acyl-CoA binding domain containing 4 gene DOID:630 genetic disease ISO RGD:1318153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078492 ACBD4 acyl-CoA binding domain containing 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318153 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12078514 RAB11FIP4 RAB11 family interacting protein 4 gene DOID:10283 prostate cancer ISO RGD:1348691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12078514 RAB11FIP4 RAB11 family interacting protein 4 gene DOID:1969 cerebral palsy ISO RGD:1348691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12078514 RAB11FIP4 RAB11 family interacting protein 4 gene DOID:630 genetic disease ISO RGD:1348691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078514 RAB11FIP4 RAB11 family interacting protein 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1348691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 12078541 TMEM52 transmembrane protein 52 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12078541 TMEM52 transmembrane protein 52 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12078541 TMEM52 transmembrane protein 52 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1603246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12078541 TMEM52 transmembrane protein 52 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1603246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12078541 TMEM52 transmembrane protein 52 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1603246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12078541 TMEM52 transmembrane protein 52 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12078541 TMEM52 transmembrane protein 52 gene DOID:0111934 immunodeficiency 38 ISO RGD:1603246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12078541 TMEM52 transmembrane protein 52 gene DOID:0111935 immunodeficiency 16 ISO RGD:1603246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12078541 TMEM52 transmembrane protein 52 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12078541 TMEM52 transmembrane protein 52 gene DOID:630 genetic disease ISO RGD:1603246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078541 TMEM52 transmembrane protein 52 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12078541 TMEM52 transmembrane protein 52 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1603246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12078541 TMEM52 transmembrane protein 52 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12078550 DTD2 D-aminoacyl-tRNA deacylase 2 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1319312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 12078550 DTD2 D-aminoacyl-tRNA deacylase 2 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1319312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 12078550 DTD2 D-aminoacyl-tRNA deacylase 2 gene DOID:0112088 nuclear type mitochondrial complex I deficiency 21 ISO RGD:1319312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 12078550 DTD2 D-aminoacyl-tRNA deacylase 2 gene DOID:14330 Parkinson's disease ISO RGD:1319312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson's disease PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 12078550 DTD2 D-aminoacyl-tRNA deacylase 2 gene DOID:630 genetic disease ISO RGD:1319312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078550 DTD2 D-aminoacyl-tRNA deacylase 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319312 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12078562 WDR73 WD repeat domain 73 gene DOID:0060364 Galloway-Mowat syndrome 1 ISO RGD:1602852 D RGD:7240710 20190313 OMIM 12078562 WDR73 WD repeat domain 73 gene DOID:0060364 Galloway-Mowat syndrome 1 ISO RGD:1602852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 PMID:11391656|PMID:12030328|PMID:16217710|PMID:20531441|PMID:25466283|PMID:25741868|PMID:25873735|PMID:26070982|PMID:26123727|PMID:27001912|PMID:28492532|PMID:29127259|PMID:30315938|PMID:31130284 12078562 WDR73 WD repeat domain 73 gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1602852 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25466283 12078562 WDR73 WD repeat domain 73 gene DOID:1184 nephrotic syndrome ISO RGD:1602852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:16217710|PMID:25741868|PMID:25873735|PMID:26123727|PMID:29127259 12078562 WDR73 WD repeat domain 73 gene DOID:1826 epilepsy ISO RGD:1602852 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:32581362 12078562 WDR73 WD repeat domain 73 gene DOID:2717 Bloom syndrome ISO RGD:1602852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12078562 WDR73 WD repeat domain 73 gene DOID:543 dystonia ISO RGD:1602852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12078562 WDR73 WD repeat domain 73 gene DOID:630 genetic disease ISO RGD:1602852 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532|PMID:9536098 12078562 WDR73 WD repeat domain 73 gene DOID:9256 colorectal cancer ISO RGD:1602852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12078574 AP1AR adaptor related protein complex 1 associated regulatory protein gene DOID:12271 aniridia ISO RGD:1347570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 12078574 AP1AR adaptor related protein complex 1 associated regulatory protein gene DOID:630 genetic disease ISO RGD:1347570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078594 NPRL3 NPR3 like, GATOR1 complex subunit gene DOID:1059 intellectual disability ISO RGD:1606330 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26285051|PMID:26505888|PMID:28492532 12078594 NPRL3 NPR3 like, GATOR1 complex subunit gene DOID:1826 epilepsy ISO RGD:1606330 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:16199547|PMID:25741868|PMID:26285051|PMID:26505888|PMID:28492532|PMID:32086284 12078594 NPRL3 NPR3 like, GATOR1 complex subunit gene DOID:630 genetic disease ISO RGD:1606330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12078594 NPRL3 NPR3 like, GATOR1 complex subunit gene DOID:9001601 Familial Focal Epilepsy, with Variable Foci 1 ISO RGD:1606330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12078594 NPRL3 NPR3 like, GATOR1 complex subunit gene DOID:9006565 Familial Focal Epilepsy, with Variable Foci 3 ISO RGD:1606330 D RGD:7240710 20190315 OMIM 12078594 NPRL3 NPR3 like, GATOR1 complex subunit gene DOID:9006565 Familial Focal Epilepsy, with Variable Foci 3 ISO RGD:1606330 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 3 PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:26285051|PMID:26505888|PMID:26786403|PMID:27173016|PMID:28492532|PMID:28726809|PMID:30093711|PMID:31594065|PMID:31639411|PMID:32086284|PMID:35136953|PMID:9536098 12078621 HMMR hyaluronan mediated motility receptor gene DOID:0080600 COVID-19 ISO RGD:737426 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12078621 HMMR hyaluronan mediated motility receptor gene DOID:11612 polycystic ovary syndrome ISO RGD:737426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12078621 HMMR hyaluronan mediated motility receptor gene DOID:1612 breast cancer ISO RGD:737426 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to PMID:25741868 12078621 HMMR hyaluronan mediated motility receptor gene DOID:1612 breast cancer susceptibility ISO RGD:737426 D RGD:7240710 20230505 OMIM 12078621 HMMR hyaluronan mediated motility receptor gene DOID:2394 ovarian cancer ISO RGD:737426 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 12078621 HMMR hyaluronan mediated motility receptor gene DOID:630 genetic disease ISO RGD:737426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078621 HMMR hyaluronan mediated motility receptor gene DOID:684 hepatocellular carcinoma ISO RGD:737426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12078621 HMMR hyaluronan mediated motility receptor gene DOID:8552 chronic myeloid leukemia ISO RGD:737426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17157168 12078621 HMMR hyaluronan mediated motility receptor gene DOID:9008939 Breast Neoplasms ISO RGD:737426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17922014 12078621 HMMR hyaluronan mediated motility receptor gene DOID:9008952 Breast Cancer, Familial ISO RGD:737426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 12078647 LOC100049001 tryptase gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1605426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12078647 LOC100049001 tryptase gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605426 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12078647 LOC100049001 tryptase gene DOID:1826 epilepsy ISO RGD:1605426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12078647 LOC100049001 tryptase gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12078647 LOC100049001 tryptase gene DOID:2773 contact dermatitis ISO RGD:1605426 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12078647 LOC100049001 tryptase gene DOID:630 genetic disease ISO RGD:1605426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078647 LOC100049001 tryptase gene DOID:65 connective tissue disease ISO RGD:1605426 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:27749843 12078647 LOC100049001 tryptase gene DOID:9003171 Primary Dysautonomias ISO RGD:1605426 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:27749843 12078647 LOC100049001 tryptase gene DOID:9006202 Pruritus ISO RGD:1605426 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:27749843 12078647 LOC100049001 tryptase gene DOID:9007763 Flushing ISO RGD:1605426 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:27749843 12078647 LOC100049001 tryptase gene DOID:9778 irritable bowel syndrome ISO RGD:1605426 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:27749843 12078657 LCN10 lipocalin 10 gene DOID:0050777 Joubert syndrome ISO RGD:1347368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12078657 LCN10 lipocalin 10 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1347368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12078657 LCN10 lipocalin 10 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1347368 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12078657 LCN10 lipocalin 10 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1347368 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12078657 LCN10 lipocalin 10 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1347368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12078657 LCN10 lipocalin 10 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1347368 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12078657 LCN10 lipocalin 10 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1347368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12078657 LCN10 lipocalin 10 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1347368 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12078657 LCN10 lipocalin 10 gene DOID:0081097 Rafiq syndrome ISO RGD:1347368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12078657 LCN10 lipocalin 10 gene DOID:3652 Leigh disease ISO RGD:1347368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12078657 LCN10 lipocalin 10 gene DOID:630 genetic disease ISO RGD:1347368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078657 LCN10 lipocalin 10 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1347368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12078667 OR2W3 olfactory receptor family 2 subfamily W member 3 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1343372 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12078667 OR2W3 olfactory receptor family 2 subfamily W member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1343372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12078667 OR2W3 olfactory receptor family 2 subfamily W member 3 gene DOID:630 genetic disease ISO RGD:1343372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12078667 OR2W3 olfactory receptor family 2 subfamily W member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12078667 OR2W3 olfactory receptor family 2 subfamily W member 3 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1343372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 12078667 OR2W3 olfactory receptor family 2 subfamily W member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12078678 SOCS6 suppressor of cytokine signaling 6 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1312180 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12078678 SOCS6 suppressor of cytokine signaling 6 gene DOID:630 genetic disease ISO RGD:1312180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078678 SOCS6 suppressor of cytokine signaling 6 gene DOID:6420 pulmonary valve stenosis ISO RGD:1312180 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12078678 SOCS6 suppressor of cytokine signaling 6 gene DOID:8445 intestinal volvulus ISO RGD:1312180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12078678 SOCS6 suppressor of cytokine signaling 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12078678 SOCS6 suppressor of cytokine signaling 6 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1312180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12078703 PATL2 PAT1 homolog 2 gene DOID:0050712 AGAT deficiency ISO RGD:2303478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 12078703 PATL2 PAT1 homolog 2 gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:2303478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 PMID:19105190|PMID:20110243|PMID:22154821|PMID:26556829|PMID:28492532 12078703 PATL2 PAT1 homolog 2 gene DOID:1100 ovarian disease ISO RGD:1317343 D RGD:9068941 20220825 MouseDO 12078703 PATL2 PAT1 homolog 2 gene DOID:2717 Bloom syndrome ISO RGD:2303478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12078703 PATL2 PAT1 homolog 2 gene DOID:630 genetic disease ISO RGD:2303478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078703 PATL2 PAT1 homolog 2 gene DOID:9000602 Oocyte Maturation Defect 4 ISO RGD:2303478 D RGD:7240710 20190315 OMIM 12078703 PATL2 PAT1 homolog 2 gene DOID:9000602 Oocyte Maturation Defect 4 ISO RGD:2303478 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 4 PMID:24033266|PMID:25741868|PMID:28965844|PMID:28965849|PMID:29661911|PMID:32552793|PMID:35091966 12078703 PATL2 PAT1 homolog 2 gene DOID:9008845 Oocyte Maturation Defect 2 ISO RGD:2303478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 2 PMID:24033266|PMID:25741868|PMID:28965844|PMID:29661911|PMID:32552793 12078703 PATL2 PAT1 homolog 2 gene DOID:9256 colorectal cancer ISO RGD:2303478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12078720 MIR432 microRNA mir-432 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1603771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 12078720 MIR432 microRNA mir-432 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1603771 D RGD:9068941 20220721 RGD mRNA:increased expression:esophagus (human) PMID:28760781|REF_RGD_ID:153002560 12078720 MIR432 microRNA mir-432 gene DOID:3910 lung adenocarcinoma ISO RGD:1603771 D RGD:9068941 20220721 RGD human cells in mouse model PMID:26942465|REF_RGD_ID:152999419 12078720 MIR432 microRNA mir-432 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1603771 D RGD:9068941 20220721 RGD mRNA:decreased expression:lung (human) PMID:26942465|REF_RGD_ID:152999419 12078720 MIR432 microRNA mir-432 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1603771 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12078720 MIR432 microRNA mir-432 gene DOID:4362 cervical cancer ISO RGD:1603771 D RGD:9068941 20220721 RGD mRNA:decreased expression:cervical region (human) PMID:33603486|REF_RGD_ID:152999025 12078720 MIR432 microRNA mir-432 gene DOID:630 genetic disease ISO RGD:1603771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078720 MIR432 microRNA mir-432 gene DOID:684 hepatocellular carcinoma ISO RGD:1603771 D RGD:9068941 20220721 RGD human cells in mouse model PMID:25797263|REF_RGD_ID:11087457 12078720 MIR432 microRNA mir-432 gene DOID:684 hepatocellular carcinoma ISO RGD:1603771 D RGD:9068941 20220721 RGD mRNA:decreased expression:liver (human) PMID:25797263|PMID:33675609|REF_RGD_ID:11087457|REF_RGD_ID:152999436 12078720 MIR432 microRNA mir-432 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1603771 D RGD:9068941 20220721 RGD mRNA:decreased expression:liver (human) PMID:30086881|REF_RGD_ID:152999437 12078720 MIR432 microRNA mir-432 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1603771 D RGD:9068941 20220721 RGD mRNA:decreased expression:colon (human) PMID:33717244|REF_RGD_ID:152999433 12078720 MIR432 microRNA mir-432 gene DOID:9005172 Lung Neoplasms ISO RGD:1603771 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12078720 MIR432 microRNA mir-432 gene DOID:9007787 Carcinoid Tumor ISO RGD:1603771 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12078720 MIR432 microRNA mir-432 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1603771 D RGD:9068941 20220721 RGD mRNA:decreased expression:colon (human) PMID:33717244|REF_RGD_ID:152999433 12078720 MIR432 microRNA mir-432 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603771 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12078815 GPR171 G protein-coupled receptor 171 gene DOID:0050579 glycogen storage disease XV ISO RGD:1353149 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12078815 GPR171 G protein-coupled receptor 171 gene DOID:630 genetic disease ISO RGD:1353149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078825 JPT1 Jupiter microtubule associated homolog 1 gene DOID:630 genetic disease ISO RGD:1348734 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078834 MYORG myogenesis regulating glycosidase (putative) gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1320364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12078834 MYORG myogenesis regulating glycosidase (putative) gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1320364 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12078834 MYORG myogenesis regulating glycosidase (putative) gene DOID:0080942 anauxetic dysplasia ISO RGD:1320364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12078834 MYORG myogenesis regulating glycosidase (putative) gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1320364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12078834 MYORG myogenesis regulating glycosidase (putative) gene DOID:630 genetic disease ISO RGD:1320364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30649222|PMID:31009047|PMID:31951047|PMID:32211515 12078834 MYORG myogenesis regulating glycosidase (putative) gene DOID:9007487 Idiopathic Basal Ganglia Calcification 7 ISO RGD:1320364 D RGD:7240710 20190315 OMIM 12078834 MYORG myogenesis regulating glycosidase (putative) gene DOID:9007487 Idiopathic Basal Ganglia Calcification 7 ISO RGD:1320364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 7, autosomal recessive PMID:25741868|PMID:28492532|PMID:29910000|PMID:30460687|PMID:30589467|PMID:30649222|PMID:30656188|PMID:31009047|PMID:31440850|PMID:31951047|PMID:32211515 12078834 MYORG myogenesis regulating glycosidase (putative) gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12078834 MYORG myogenesis regulating glycosidase (putative) gene DOID:9870 galactosemia ISO RGD:1320364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12078846 LAPTM4B lysosomal protein transmembrane 4 beta gene DOID:630 genetic disease ISO RGD:1323527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078870 NUP93 nucleoporin 93 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1323029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12078870 NUP93 nucleoporin 93 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1323029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26878725 12078870 NUP93 nucleoporin 93 gene DOID:0080387 nephrotic syndrome type 12 ISO RGD:1323029 D RGD:7240710 20190315 OMIM 12078870 NUP93 nucleoporin 93 gene DOID:0080387 nephrotic syndrome type 12 ISO RGD:1323029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 12 PMID:25741868|PMID:26878725|PMID:28492532|PMID:29127259|PMID:33532864 12078870 NUP93 nucleoporin 93 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1323029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12078870 NUP93 nucleoporin 93 gene DOID:1184 nephrotic syndrome ISO RGD:1323029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:26878725|PMID:28492532|PMID:29127259|PMID:30655312|PMID:33532864 12078870 NUP93 nucleoporin 93 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1323029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:32581362 12078870 NUP93 nucleoporin 93 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12078870 NUP93 nucleoporin 93 gene DOID:630 genetic disease ISO RGD:1323029 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12078902 OSGEPL1 O-sialoglycoprotein endopeptidase like 1 gene DOID:0111944 immunodeficiency 31B ISO RGD:1313685 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 12078902 OSGEPL1 O-sialoglycoprotein endopeptidase like 1 gene DOID:630 genetic disease ISO RGD:1313685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078902 OSGEPL1 O-sialoglycoprotein endopeptidase like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12078923 CWC25 CWC25 spliceosome associated protein homolog gene DOID:630 genetic disease ISO RGD:1603211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078937 LOC483905 peptidyl-prolyl cis-trans isomerase A-like gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:2301115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 12078937 LOC483905 peptidyl-prolyl cis-trans isomerase A-like gene DOID:1540 parathyroid carcinoma ISO RGD:2301115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12078937 LOC483905 peptidyl-prolyl cis-trans isomerase A-like gene DOID:5419 schizophrenia ISO RGD:2301115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12078937 LOC483905 peptidyl-prolyl cis-trans isomerase A-like gene DOID:630 genetic disease ISO RGD:2301115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078937 LOC483905 peptidyl-prolyl cis-trans isomerase A-like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:2301115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12078940 IL20RA interleukin 20 receptor subunit alpha gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1316471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12078940 IL20RA interleukin 20 receptor subunit alpha gene DOID:0111955 immunodeficiency 27A ISO RGD:1316471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 12078940 IL20RA interleukin 20 receptor subunit alpha gene DOID:14115 toxic shock syndrome ISO RGD:1618138 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple PMID:18246602|REF_RGD_ID:5037232 12078940 IL20RA interleukin 20 receptor subunit alpha gene DOID:630 genetic disease ISO RGD:1316471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12078940 IL20RA interleukin 20 receptor subunit alpha gene DOID:9003281 Spontaneous Abortions ISO RGD:1316471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12078940 IL20RA interleukin 20 receptor subunit alpha gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1316471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:26642243|PMID:28492532|PMID:29572183|PMID:8960473|PMID:9806040 12078953 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1319911 D RGD:9068941 20221117 RGD DNA:deletions:multiple: (human) PMID:28464518|REF_RGD_ID:155663379 12078953 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1319911 D RGD:9068941 20221117 RGD DNA:nonsense mutation:exon:c.1039 C>T, p.R347X (human) PMID:29700987|REF_RGD_ID:155663377 12078953 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:0080846 latent autoimmune diabetes in adults ISO RGD:1319911 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 5 PMID:15123604|PMID:15247916|PMID:15678134|PMID:15678135|PMID:15678137 12078953 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:0110744 type 1 diabetes mellitus 5 ISO RGD:1319911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 5 PMID:15123604|PMID:15247916|PMID:15678134|PMID:15678135|PMID:15678137 12078953 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319911 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28386937|PMID:28492532|PMID:31250519 12078953 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:1682 congenital heart disease ISO RGD:1319911 D RGD:9068941 20221111 RGD DNA:mutations:cds:multiple (human) PMID:36229919|REF_RGD_ID:155663359 12078953 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:2152 ovary epithelial cancer susceptibility ISO RGD:1319911 D RGD:9068941 20221117 RGD DNA:SNP:CDS:rs237028 (human) PMID:31485280|REF_RGD_ID:155663376 12078953 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1319912 D RGD:9068941 20221117 RGD mRNA, protein:increased expression:lung (mouse) PMID:34331613|REF_RGD_ID:155663371 12078953 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:1319912 D RGD:9068941 20221117 RGD PMID:32506869|REF_RGD_ID:155663374 12078953 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1319911 D RGD:9068941 20221117 RGD mRNA:increased expression:lung (human) PMID:34551195|REF_RGD_ID:155663369 12078953 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:630 genetic disease ISO RGD:1319911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25326635|PMID:25741868|PMID:28492532 12078953 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:6364 migraine ISO RGD:1319911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Migraine PMID:25741868|PMID:28386937|PMID:28492532|PMID:29700987|PMID:31250519 12078953 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1319911 D RGD:9068941 20221117 RGD mRNA, protein:increased expression:synovial (human) PMID:22660635|REF_RGD_ID:155663483 12078953 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:9004994 Embryo Loss ISO RGD:1319912 D RGD:9068941 20221117 RGD PMID:22972987|REF_RGD_ID:155663421 12078953 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:9007753 Congenital Heart Defects, Multiple Types, 2 ISO RGD:1319911 D RGD:7240710 20180130 OMIM 12078953 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:9007753 Congenital Heart Defects, Multiple Types, 2 ISO RGD:1319911 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 2 PMID:20493459|PMID:25326635|PMID:25741868|PMID:27452334|PMID:28386937|PMID:28492532|PMID:31250519|PMID:31959127|PMID:32860008 12078953 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:9008565 Congenital Heart Defects, Multiple Types ISO RGD:1319911 D RGD:9068941 20221117 RGD DNA:mutation, translocation:cds:c.622C>T p.Pro208Ser|c.688C>A p.Gln230Lys, t(2;6)(q21;q25) PMID:20493459|REF_RGD_ID:155663487 12078953 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:1319911 D RGD:9068941 20221117 RGD mRNA, protein:increased expression:kidney (human) PMID:22660635|REF_RGD_ID:155663483 12078953 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:936 brain disease ISO RGD:1319911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25326635|PMID:25741868 12078974 ZNF526 zinc finger protein 526 gene DOID:0050888 syndromic intellectual disability ISO RGD:1602838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 12078974 ZNF526 zinc finger protein 526 gene DOID:1059 intellectual disability ISO RGD:1602838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12078974 ZNF526 zinc finger protein 526 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12078974 ZNF526 zinc finger protein 526 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1602838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12078974 ZNF526 zinc finger protein 526 gene DOID:2340 craniosynostosis ISO RGD:1602838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:23354439|PMID:26097063|PMID:28492532|PMID:28808027 12078974 ZNF526 zinc finger protein 526 gene DOID:5419 schizophrenia ISO RGD:1602838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12078974 ZNF526 zinc finger protein 526 gene DOID:630 genetic disease ISO RGD:1602838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12078974 ZNF526 zinc finger protein 526 gene DOID:6420 pulmonary valve stenosis ISO RGD:1602838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:25558065|PMID:25741868 12078974 ZNF526 zinc finger protein 526 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1602838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12078974 ZNF526 zinc finger protein 526 gene DOID:9002634 DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME ISO RGD:1602838 D RGD:7240710 20220615 OMIM 12078974 ZNF526 zinc finger protein 526 gene DOID:9002634 DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME ISO RGD:1602838 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dentici-Novelli neurodevelopmental syndrome PMID:25558065|PMID:25741868|PMID:33397746 12078974 ZNF526 zinc finger protein 526 gene DOID:9003816 Macrocephaly ISO RGD:1602838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly 12078974 ZNF526 zinc finger protein 526 gene DOID:9269 maple syrup urine disease ISO RGD:1602838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12078996 ACKR2 atypical chemokine receptor 2 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1353783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 12078996 ACKR2 atypical chemokine receptor 2 gene DOID:630 genetic disease ISO RGD:1353783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079017 DDX11 DEAD/H-box helicase 11 gene DOID:0060535 Warsaw breakage syndrome ISO RGD:1315426 D RGD:7240710 20180130 OMIM 12079017 DDX11 DEAD/H-box helicase 11 gene DOID:0060535 Warsaw breakage syndrome ISO RGD:1315426 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Warsaw breakage syndrome PMID:20137776|PMID:20696886|PMID:23033317|PMID:25741868|PMID:26089203|PMID:28492532|PMID:30216658|PMID:31169992|PMID:31287223|PMID:32855419|PMID:34906519 12079017 DDX11 DEAD/H-box helicase 11 gene DOID:10907 microcephaly ISO RGD:1315426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12079017 DDX11 DEAD/H-box helicase 11 gene DOID:630 genetic disease ISO RGD:1315426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28960803 12079017 DDX11 DEAD/H-box helicase 11 gene DOID:9004203 Chromosome Breakage ISO RGD:1315426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25561740 12079052 GAD2 glutamate decarboxylase 2 gene DOID:11714 gestational diabetes ISO RGD:733945 D RGD:9068941 20200609 RGD PMID:18588707|REF_RGD_ID:2313295 12079052 GAD2 glutamate decarboxylase 2 gene DOID:11832 visual epilepsy susceptibility ISO RGD:10616 D RGD:9068941 20200609 RGD PMID:8954991|REF_RGD_ID:1302511 12079052 GAD2 glutamate decarboxylase 2 gene DOID:1470 major depressive disorder ISO RGD:733945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15560956 12079052 GAD2 glutamate decarboxylase 2 gene DOID:1826 epilepsy ISO RGD:10616 D RGD:9068941 20220825 MouseDO 12079052 GAD2 glutamate decarboxylase 2 gene DOID:3312 bipolar disorder ISO RGD:733945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15560956 12079052 GAD2 glutamate decarboxylase 2 gene DOID:5419 schizophrenia ISO RGD:733945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15560956|PMID:18923069 12079052 GAD2 glutamate decarboxylase 2 gene DOID:5419 schizophrenia ISO RGD:733945 D RGD:9068941 20200609 RGD protein:increased expression:posterior subiculum, parahippocampal gyrus PMID:21250934|REF_RGD_ID:6480427 12079052 GAD2 glutamate decarboxylase 2 gene DOID:630 genetic disease ISO RGD:733945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079052 GAD2 glutamate decarboxylase 2 gene DOID:8947 diabetic retinopathy ISO RGD:733945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21412422 12079052 GAD2 glutamate decarboxylase 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:733945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 12079052 GAD2 glutamate decarboxylase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:10616 D RGD:9068941 20200609 RGD PMID:19188044|REF_RGD_ID:2313292 12079052 GAD2 glutamate decarboxylase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:10616 D RGD:9068941 20220825 MouseDO OMIM:222100 12079052 GAD2 glutamate decarboxylase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733945 D RGD:9068941 20200609 RGD PMID:19085183|REF_RGD_ID:2313294 12079052 GAD2 glutamate decarboxylase 2 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:10616 D RGD:9068941 20200609 RGD PMID:18005036|REF_RGD_ID:2313296 12079052 GAD2 glutamate decarboxylase 2 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:733945 D RGD:9068941 20200609 RGD PMID:19741189|REF_RGD_ID:2313289 12079071 CNOT8 CCR4-NOT transcription complex subunit 8 gene DOID:630 genetic disease ISO RGD:1314995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079085 CD3G CD3 gamma subunit of T-cell receptor complex gene DOID:0060017 CD3epsilon deficiency ISO RGD:1317072 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12079085 CD3G CD3 gamma subunit of T-cell receptor complex gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1317072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12079085 CD3G CD3 gamma subunit of T-cell receptor complex gene DOID:0080690 RASopathy ISO RGD:1317072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12079085 CD3G CD3 gamma subunit of T-cell receptor complex gene DOID:0081330 glycogen storage disease Ib ISO RGD:1317072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12079085 CD3G CD3 gamma subunit of T-cell receptor complex gene DOID:0110651 long QT syndrome 10 ISO RGD:1317072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12079085 CD3G CD3 gamma subunit of T-cell receptor complex gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1317072 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12079085 CD3G CD3 gamma subunit of T-cell receptor complex gene DOID:0111971 immunodeficiency 18 ISO RGD:1317072 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12079085 CD3G CD3 gamma subunit of T-cell receptor complex gene DOID:0111972 immunodeficiency 19 ISO RGD:1317072 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12079085 CD3G CD3 gamma subunit of T-cell receptor complex gene DOID:0111973 immunodeficiency 17 ISO RGD:1317072 D RGD:7240710 20180130 OMIM 12079085 CD3G CD3 gamma subunit of T-cell receptor complex gene DOID:0111973 immunodeficiency 17 ISO RGD:1317072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient | ClinVar Annotator: match by term: Immunodeficiency due to defect in CD3-gamma PMID:14602880|PMID:15546002|PMID:16199547|PMID:1635567|PMID:1709425|PMID:17277165|PMID:17576681|PMID:24033266|PMID:24216686|PMID:24910257|PMID:25373860|PMID:25741868|PMID:26822028|PMID:28492532|PMID:31921117|PMID:8490660|PMID:9536098 12079085 CD3G CD3 gamma subunit of T-cell receptor complex gene DOID:1059 intellectual disability ISO RGD:1317072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12079085 CD3G CD3 gamma subunit of T-cell receptor complex gene DOID:5810 adenosine deaminase deficiency ISO RGD:1317072 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Bubble boy disease PMID:1635567|PMID:17277165|PMID:24910257|PMID:28492532|PMID:31921117 12079085 CD3G CD3 gamma subunit of T-cell receptor complex gene DOID:627 severe combined immunodeficiency ISO RGD:1317072 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:1635567|PMID:17277165|PMID:24910257|PMID:28492532|PMID:31921117 12079085 CD3G CD3 gamma subunit of T-cell receptor complex gene DOID:630 genetic disease ISO RGD:1317072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12079085 CD3G CD3 gamma subunit of T-cell receptor complex gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1317072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12079085 CD3G CD3 gamma subunit of T-cell receptor complex gene DOID:9007661 Dwarfism ISO RGD:1317072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12079098 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:0050534 congenital stationary night blindness ISO RGD:1344610 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:19878917|REF_RGD_ID:7175555 12079098 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:0111708 focal nonepidermolytic palmoplantar keratoderma ISO RGD:1344610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma PMID:21285946|PMID:24452206|PMID:25285920|PMID:25741868|PMID:28492532|PMID:28587736 12079098 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:0111711 focal nonepidermolytic palmoplantar keratoderma 2 ISO RGD:1344610 D RGD:7240710 20180130 OMIM 12079098 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques ISO RGD:1344610 D RGD:7240710 20200826 OMIM 12079098 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques ISO RGD:1344610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Olmsted syndrome 1 PMID:22405088|PMID:24452206|PMID:25741868|PMID:27273692|PMID:28492532|PMID:28587736 12079098 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:10024 migraine with aura ISO RGD:1344610 D RGD:9068941 20200609 RGD DNA:snp:intron:g.36670T>C rs7217270 (human) PMID:22162417|REF_RGD_ID:7175557 12079098 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:224 transient cerebral ischemia ISO RGD:1557695 D RGD:9068941 20200609 RGD PMID:22284622|REF_RGD_ID:7175554 12079098 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:2723 dermatitis ISO RGD:1564531 D RGD:9068941 20211029 RGD DNA:missense mutation:cds:G1717T (rat) PMID:16858425|REF_RGD_ID:150520053 12079098 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:3310 atopic dermatitis ISO RGD:1557695 D RGD:9068941 20220825 MouseDO OMIM:603165 12079098 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:3613 Canavan disease ISO RGD:1344610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 12079098 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:5419 schizophrenia ISO RGD:1344610 D RGD:9068941 20200609 RGD DNA:snps:intron:g.109277T>C, g.110078T>C (rs10162727, rs1035706) (human) PMID:21970977|REF_RGD_ID:7175558 12079098 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:630 genetic disease ISO RGD:1344610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 12079098 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:8881 rosacea ISO RGD:1344610 D RGD:9068941 20200609 RGD Erythematotelangiectatic Rosacea, Phymatous Rosacea; protein:increased expression:dermis (human) PMID:22189789|REF_RGD_ID:7175556 12079098 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:9002221 Hyperplasia ISO RGD:1344610 D RGD:9068941 20210709 CTD CTD Direct Evidence: therapeutic PMID:32535744 12079098 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type ISO RGD:1344610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 12079098 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1344610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 12079098 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:9256 colorectal cancer ISO RGD:1344610 D RGD:9068941 20200609 RGD DNA:snp:exon:c.558A>C rs11078458 (human) PMID:20042636|REF_RGD_ID:7183081 12079098 TRPV3 transient receptor potential cation channel subfamily V member 3 gene DOID:987 alopecia ISO RGD:1564531 D RGD:9068941 20211029 RGD DNA:missense mutation:cds:G1717T (rat) PMID:16858425|REF_RGD_ID:150520053 12079122 GFI1B growth factor independent 1B transcriptional repressor gene DOID:0070004 myeloid neoplasm ISO RGD:1323334 D RGD:9068941 20200609 RGD mRNA:increased expression:blood: PMID:19360458|REF_RGD_ID:11040460 12079122 GFI1B growth factor independent 1B transcriptional repressor gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1323334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12079122 GFI1B growth factor independent 1B transcriptional repressor gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1323334 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:25741868|PMID:28492532 12079122 GFI1B growth factor independent 1B transcriptional repressor gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1323334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12079122 GFI1B growth factor independent 1B transcriptional repressor gene DOID:0081097 Rafiq syndrome ISO RGD:1323334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12079122 GFI1B growth factor independent 1B transcriptional repressor gene DOID:0111044 gray platelet syndrome ISO RGD:1323334 D RGD:9068941 20200609 RGD DNA:nonsense mutation:c.859C>T, p.Gln287X(human) PMID:24325358|REF_RGD_ID:11040508 12079122 GFI1B growth factor independent 1B transcriptional repressor gene DOID:0111049 platelet-type bleeding disorder 17 ISO RGD:1323334 D RGD:7240710 20190320 OMIM 12079122 GFI1B growth factor independent 1B transcriptional repressor gene DOID:0111049 platelet-type bleeding disorder 17 ISO RGD:1323334 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 17 PMID:1065298|PMID:23927492|PMID:24325358|PMID:25741868|PMID:28041820|PMID:30573501|PMID:31064749|PMID:34355501|PMID:5681484 12079122 GFI1B growth factor independent 1B transcriptional repressor gene DOID:12449 aplastic anemia ISO RGD:1323334 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone marrow cell: PMID:17156408|REF_RGD_ID:11040507 12079122 GFI1B growth factor independent 1B transcriptional repressor gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1323334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12079122 GFI1B growth factor independent 1B transcriptional repressor gene DOID:1588 thrombocytopenia ISO RGD:1323334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:31064749 12079122 GFI1B growth factor independent 1B transcriptional repressor gene DOID:2213 hemorrhagic disease ISO RGD:1323334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 12079122 GFI1B growth factor independent 1B transcriptional repressor gene DOID:2223 platelet storage pool deficiency ISO RGD:1323334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Storage pool disease of platelets PMID:25741868 12079122 GFI1B growth factor independent 1B transcriptional repressor gene DOID:3652 Leigh disease ISO RGD:1323334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12079122 GFI1B growth factor independent 1B transcriptional repressor gene DOID:630 genetic disease ISO RGD:1323334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079122 GFI1B growth factor independent 1B transcriptional repressor gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1323334 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow cell: PMID:17156408|REF_RGD_ID:11040507 12079122 GFI1B growth factor independent 1B transcriptional repressor gene DOID:9000647 Acute Erythroleukemia ISO RGD:1323334 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow cell: PMID:17156408|REF_RGD_ID:11040507 12079122 GFI1B growth factor independent 1B transcriptional repressor gene DOID:9002867 Myeloid Leukemia, Chronic-Phase ISO RGD:1323334 D RGD:9068941 20200609 RGD mRNA:increased expression:blood: PMID:19360458|REF_RGD_ID:11040460 12079122 GFI1B growth factor independent 1B transcriptional repressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323334 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 12079122 GFI1B growth factor independent 1B transcriptional repressor gene DOID:9119 acute myeloid leukemia ISO RGD:1323334 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow cell: PMID:17156408|REF_RGD_ID:11040507 12079122 GFI1B growth factor independent 1B transcriptional repressor gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1323334 D RGD:9068941 20200609 RGD mRNA:increased expression:blood: PMID:19360458|REF_RGD_ID:11040460 12079154 LOC606788 spermatogenesis-associated protein 31A6 gene DOID:630 genetic disease ISO RGD:2303681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079162 TMEM51 transmembrane protein 51 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602878 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12079162 TMEM51 transmembrane protein 51 gene DOID:630 genetic disease ISO RGD:1602878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079194 WIPF2 WAS/WASL interacting protein family member 2 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1603178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 12079194 WIPF2 WAS/WASL interacting protein family member 2 gene DOID:630 genetic disease ISO RGD:1603178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079219 PRAP1 proline rich acidic protein 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1354045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12079219 PRAP1 proline rich acidic protein 1 gene DOID:630 genetic disease ISO RGD:1354045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079236 ELOVL7 ELOVL fatty acid elongase 7 gene DOID:630 genetic disease ISO RGD:1321534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079236 ELOVL7 ELOVL fatty acid elongase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12079253 CD79B CD79b molecule gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:730908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21173233 12079253 CD79B CD79b molecule gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:730908 D RGD:9068941 20220311 RGD DNA:mutation:multiple (human) PMID:28803429|REF_RGD_ID:151665120 12079253 CD79B CD79b molecule gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:730908 D RGD:9068941 20220317 RGD DNA:missense mutation:multiple, exon 5-6 (human) PMID:25347427|REF_RGD_ID:11075852 12079253 CD79B CD79b molecule gene DOID:0050745 diffuse large B-cell lymphoma severity ISO RGD:730908 D RGD:9068941 20220317 RGD DNA:missense mutation:multiple, exon 5 (human) PMID:31609782|REF_RGD_ID:151665203 12079253 CD79B CD79b molecule gene DOID:0050745 diffuse large B-cell lymphoma treatment ISO RGD:730908 D RGD:9068941 20220311 RGD PMID:25708834|REF_RGD_ID:151665133 12079253 CD79B CD79b molecule gene DOID:0050746 mantle cell lymphoma ISO RGD:730908 D RGD:9068941 20200609 RGD protein:decreased expression:blood, B cell (human) PMID:10329919|REF_RGD_ID:11531139 12079253 CD79B CD79b molecule gene DOID:0050746 mantle cell lymphoma treatment ISO RGD:730908 D RGD:9068941 20220317 RGD human cells in mouse model PMID:17374736|REF_RGD_ID:151665154 12079253 CD79B CD79b molecule gene DOID:0050750 splenic marginal zone lymphoma ISO RGD:730908 D RGD:9068941 20200609 RGD protein:decreased expression:blood, B cell (human) PMID:10329919|REF_RGD_ID:11531139 12079253 CD79B CD79b molecule gene DOID:0050873 follicular lymphoma treatment ISO RGD:730908 D RGD:9068941 20220317 RGD human cells in mouse model PMID:17374736|REF_RGD_ID:151665154 12079253 CD79B CD79b molecule gene DOID:0060060 non-Hodgkin lymphoma treatment ISO RGD:730908 D RGD:9068941 20220311 RGD human cells in mouse model PMID:19633198|REF_RGD_ID:151665149 12079253 CD79B CD79b molecule gene DOID:0081138 agammaglobulinemia 6 ISO RGD:730908 D RGD:7240710 20180130 OMIM 12079253 CD79B CD79b molecule gene DOID:0081138 agammaglobulinemia 6 ISO RGD:730908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive PMID:17576681|PMID:17675462|PMID:17709424|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532|PMID:9536098 12079253 CD79B CD79b molecule gene DOID:1040 chronic lymphocytic leukemia ISO RGD:730908 D RGD:9068941 20220311 RGD DNA:mutation:multiple (human) PMID:10753858|REF_RGD_ID:151665152 12079253 CD79B CD79b molecule gene DOID:1040 chronic lymphocytic leukemia ISO RGD:730908 D RGD:9068941 20220311 RGD protein:decreased expression:peripheral blood cells (human) PMID:10516749|REF_RGD_ID:151665125 12079253 CD79B CD79b molecule gene DOID:1040 chronic lymphocytic leukemia ISO RGD:730908 D RGD:9068941 20220317 RGD mRNA, protein:splice variants, alternative forms:exon 3 (human) PMID:10090943|REF_RGD_ID:151665190 12079253 CD79B CD79b molecule gene DOID:1040 chronic lymphocytic leukemia ISO RGD:730908 D RGD:9068941 20220317 RGD protein:decreased expression:blood, B cell (human) PMID:10329919|REF_RGD_ID:11531139 12079253 CD79B CD79b molecule gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:730908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 12079253 CD79B CD79b molecule gene DOID:2583 agammaglobulinemia ISO RGD:730908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12079253 CD79B CD79b molecule gene DOID:3234 central nervous system lymphoma treatment ISO RGD:730908 D RGD:9068941 20220317 RGD PMID:28619981|REF_RGD_ID:151665208 12079253 CD79B CD79b molecule gene DOID:409 liver disease ISO RGD:730908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12079253 CD79B CD79b molecule gene DOID:630 genetic disease ISO RGD:730908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12079253 CD79B CD79b molecule gene DOID:8584 Burkitt lymphoma treatment ISO RGD:730908 D RGD:9068941 20220317 RGD human cells in mouse model PMID:17374736|REF_RGD_ID:151665154 12079253 CD79B CD79b molecule gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:730908 D RGD:9068941 20200609 RGD protein:decreased expression:B lymphocyte, cell surface (human) PMID:9269755|REF_RGD_ID:11250403 12079253 CD79B CD79b molecule gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:730908 D RGD:9068941 20220317 RGD DNA:polymorphism:multiple (human) PMID:10552962|REF_RGD_ID:151665202 12079253 CD79B CD79b molecule gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:730908 D RGD:9068941 20220317 RGD mRNA, protein:splice variants, alternative forms:exon 3 (human) PMID:10090943|REF_RGD_ID:151665190 12079253 CD79B CD79b molecule gene DOID:9952 acute lymphoblastic leukemia ISO RGD:730908 D RGD:9068941 20200609 RGD protein:decreased expression:bone marrow, mononuclear cell (human) PMID:21487112|REF_RGD_ID:11250414 12079269 CMPK1 cytidine/uridine monophosphate kinase 1 gene DOID:11367 congenital aphakia ISO RGD:1604360 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital primary aphakia PMID:28492532 12079269 CMPK1 cytidine/uridine monophosphate kinase 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1604360 D RGD:9068941 20200609 RGD DNA:snps:intron:IVS1+1057C>A rs4492666, IVS1-928C>A rs11211524 (human) PMID:21642870|REF_RGD_ID:5133252 12079269 CMPK1 cytidine/uridine monophosphate kinase 1 gene DOID:630 genetic disease ISO RGD:1604360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079279 MRPS27 mitochondrial ribosomal protein S27 gene DOID:630 genetic disease ISO RGD:1323490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079279 MRPS27 mitochondrial ribosomal protein S27 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12079297 SWSAP1 SWIM-type zinc finger 7 associated protein 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1601725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12079297 SWSAP1 SWIM-type zinc finger 7 associated protein 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1601725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12079297 SWSAP1 SWIM-type zinc finger 7 associated protein 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1601725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12079297 SWSAP1 SWIM-type zinc finger 7 associated protein 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1601725 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12079297 SWSAP1 SWIM-type zinc finger 7 associated protein 1 gene DOID:630 genetic disease ISO RGD:1601725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079305 CPM carboxypeptidase M gene DOID:10325 silicosis ISO RGD:1321490 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24986923 12079305 CPM carboxypeptidase M gene DOID:289 endometriosis ISO RGD:1321490 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12079305 CPM carboxypeptidase M gene DOID:630 genetic disease ISO RGD:1321490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079320 REC114 REC114 meiotic recombination protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:2307386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12079320 REC114 REC114 meiotic recombination protein gene DOID:2717 Bloom syndrome ISO RGD:2307386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12079320 REC114 REC114 meiotic recombination protein gene DOID:3320 Tay-Sachs disease ISO RGD:2307386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 12079320 REC114 REC114 meiotic recombination protein gene DOID:5419 schizophrenia ISO RGD:2307386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12079320 REC114 REC114 meiotic recombination protein gene DOID:630 genetic disease ISO RGD:2307386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079320 REC114 REC114 meiotic recombination protein gene DOID:9002039 Oocyte/Zygote/Embryo Maturation Arrest 10 ISO RGD:2307386 D RGD:7240710 20210303 OMIM 12079320 REC114 REC114 meiotic recombination protein gene DOID:9002039 Oocyte/Zygote/Embryo Maturation Arrest 10 ISO RGD:2307386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 10 PMID:31704776 12079320 REC114 REC114 meiotic recombination protein gene DOID:9256 colorectal cancer ISO RGD:2307386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12079335 TAF13 TATA-box binding protein associated factor 13 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1313406 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:25741868|PMID:28257693 12079335 TAF13 TATA-box binding protein associated factor 13 gene DOID:0081222 autosomal recessive intellectual developmental disorder 60 ISO RGD:1313406 D RGD:7240710 20190315 OMIM 12079335 TAF13 TATA-box binding protein associated factor 13 gene DOID:0081222 autosomal recessive intellectual developmental disorder 60 ISO RGD:1313406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 60 | ClinVar Annotator: match by term: Mental retardation, autosomal recessive 60 PMID:25741868|PMID:28257693 12079335 TAF13 TATA-box binding protein associated factor 13 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1313406 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12079335 TAF13 TATA-box binding protein associated factor 13 gene DOID:12849 autistic disorder ISO RGD:1313406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12079335 TAF13 TATA-box binding protein associated factor 13 gene DOID:5419 schizophrenia ISO RGD:1313406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12079335 TAF13 TATA-box binding protein associated factor 13 gene DOID:630 genetic disease ISO RGD:1313406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079343 ZBBX zinc finger B-box domain containing gene DOID:630 genetic disease ISO RGD:1602864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079411 SF3B5 splicing factor 3b subunit 5 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1345762 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532 12079416 MIR421 microRNA mir-421 gene DOID:12849 autistic disorder ISO RGD:1603134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12079416 MIR421 microRNA mir-421 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1603134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12079416 MIR421 microRNA mir-421 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12079419 MIR153 microRNA mir-153 gene DOID:12849 autistic disorder ISO RGD:1352876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12079419 MIR153 microRNA mir-153 gene DOID:5082 liver cirrhosis ISO RGD:1608320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12079419 MIR153 microRNA mir-153 gene DOID:9000998 Brain Injuries ISO RGD:2325563 D RGD:9068941 20200609 RGD PMID:25089700|REF_RGD_ID:11576302 12079441 GNA12 G protein subunit alpha 12 gene DOID:0111957 immunodeficiency 11A ISO RGD:732491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency PMID:28492532 12079441 GNA12 G protein subunit alpha 12 gene DOID:630 genetic disease ISO RGD:732491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079441 GNA12 G protein subunit alpha 12 gene DOID:8577 ulcerative colitis ISO RGD:732491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 12079441 GNA12 G protein subunit alpha 12 gene DOID:9007102 Myocardial Ischemia ISO RGD:732491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12079455 RBP1 retinol binding protein 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:732391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25445212|PMID:28492532 12079455 RBP1 retinol binding protein 1 gene DOID:305 carcinoma ISO RGD:732391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12079455 RBP1 retinol binding protein 1 gene DOID:630 genetic disease ISO RGD:732391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12079455 RBP1 retinol binding protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16134180|PMID:16367923 12079455 RBP1 retinol binding protein 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:732391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12079455 RBP1 retinol binding protein 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:732391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28157488 12079455 RBP1 retinol binding protein 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3543 D RGD:9068941 20220331 RGD mRNA, protein:increased expression:mammary gland (rat) PMID:12376462|REF_RGD_ID:2292404 12079455 RBP1 retinol binding protein 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12079455 RBP1 retinol binding protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 12079506 INO80 INO80 complex ATPase subunit gene DOID:1826 epilepsy ISO RGD:1607029 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25558065 12079506 INO80 INO80 complex ATPase subunit gene DOID:2717 Bloom syndrome ISO RGD:1607029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12079506 INO80 INO80 complex ATPase subunit gene DOID:630 genetic disease ISO RGD:1607029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079506 INO80 INO80 complex ATPase subunit gene DOID:9256 colorectal cancer ISO RGD:1607029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12079546 BRD3 bromodomain containing 3 gene DOID:0050902 medulloblastoma ISO RGD:1318974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24231268 12079546 BRD3 bromodomain containing 3 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1318974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12079546 BRD3 bromodomain containing 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1318974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12079546 BRD3 bromodomain containing 3 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1318974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12079546 BRD3 bromodomain containing 3 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1318974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12079546 BRD3 bromodomain containing 3 gene DOID:0081097 Rafiq syndrome ISO RGD:1318974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12079546 BRD3 bromodomain containing 3 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1318974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12079546 BRD3 bromodomain containing 3 gene DOID:3652 Leigh disease ISO RGD:1318974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12079546 BRD3 bromodomain containing 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:1318974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12079546 BRD3 bromodomain containing 3 gene DOID:630 genetic disease ISO RGD:1318974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079568 FASTKD3 FAST kinase domains 3 gene DOID:630 genetic disease ISO RGD:1604298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079586 INSL3 insulin like 3 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:736797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:28492532 12079586 INSL3 insulin like 3 gene DOID:11383 cryptorchidism ISO RGD:736797 D RGD:7240710 20180130 OMIM 12079586 INSL3 insulin like 3 gene DOID:11383 cryptorchidism ISO RGD:736797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral cryptorchidism | ClinVar Annotator: match by term: Cryptorchidism PMID:11095425|PMID:11746019|PMID:12601553|PMID:12970298|PMID:25741868 12079586 INSL3 insulin like 3 gene DOID:630 genetic disease ISO RGD:736797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11095425 12079586 INSL3 insulin like 3 gene DOID:9003214 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative ISO RGD:736797 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type PMID:28492532 12079586 INSL3 insulin like 3 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:736797 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12079590 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1318851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12079590 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1318851 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12079590 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:0080942 anauxetic dysplasia ISO RGD:1318851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12079590 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1318851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12079590 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1318851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12079590 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:3068 glioblastoma ISO RGD:1318851 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20127710 12079590 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:3908 lung non-small cell carcinoma ISO RGD:1318851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17233834 12079590 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:630 genetic disease ISO RGD:1318851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079590 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:9000965 Neoplasm Metastasis ISO RGD:1318851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17233834 12079590 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12079590 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:9002928 Colonic Neoplasms ISO RGD:1318851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17443689 12079590 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1318851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12079590 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1318851 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20127710 12079590 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12079590 RECK reversion inducing cysteine rich protein with kazal motifs gene DOID:9870 galactosemia ISO RGD:1318851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12079627 GCG glucagon gene DOID:0060180 colitis ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22323126 12079627 GCG glucagon gene DOID:10652 Alzheimer's disease ISO RGD:68970 D RGD:9068941 20200609 RGD PMID:23035082|REF_RGD_ID:10402366 12079627 GCG glucagon gene DOID:10763 hypertension ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 12079627 GCG glucagon gene DOID:114 heart disease ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3277781 12079627 GCG glucagon gene DOID:1168 familial hyperlipidemia ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:69995 12079627 GCG glucagon gene DOID:11716 prediabetes syndrome ISO RGD:68970 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19654434|REF_RGD_ID:2313224 12079627 GCG glucagon gene DOID:12849 autistic disorder ISO RGD:68970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 12079627 GCG glucagon gene DOID:178 vascular disease ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10464538 12079627 GCG glucagon gene DOID:2018 hyperinsulinism ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3019152 12079627 GCG glucagon gene DOID:4195 hyperglycemia ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18669601|PMID:3019152 12079627 GCG glucagon gene DOID:6000 congestive heart failure ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7608802 12079627 GCG glucagon gene DOID:630 genetic disease ISO RGD:68970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079627 GCG glucagon gene DOID:76 stomach disease ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17891687 12079627 GCG glucagon gene DOID:9000046 Poisoning ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7629900 12079627 GCG glucagon gene DOID:9001109 Anorexia ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21824258|PMID:28633506 12079627 GCG glucagon gene DOID:9001581 Constipation ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12107204 12079627 GCG glucagon gene DOID:9001661 Taste Disorders ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21824258 12079627 GCG glucagon gene DOID:9002362 Hyperkinesis ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9798264 12079627 GCG glucagon gene DOID:9002395 Hypothermia ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10464538 12079627 GCG glucagon gene DOID:9002554 Tachycardia ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7629900 12079627 GCG glucagon gene DOID:9002928 Colonic Neoplasms ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22323126 12079627 GCG glucagon gene DOID:9003805 Catalepsy ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9798264 12079627 GCG glucagon gene DOID:9005100 Aberrant Crypt Foci ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22323126 12079627 GCG glucagon gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2668 D RGD:9068941 20200609 RGD PMID:18996945|REF_RGD_ID:10402370 12079627 GCG glucagon gene DOID:9006024 Hypotension ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3277781|PMID:8517581 12079627 GCG glucagon gene DOID:9006462 Coma ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10464538 12079627 GCG glucagon gene DOID:9006638 Sinus Tachycardia ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7359351 12079627 GCG glucagon gene DOID:9006743 Spasm ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7192515 12079627 GCG glucagon gene DOID:9007001 Bradycardia ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3277781|PMID:3736332|PMID:6542785|PMID:7787496|PMID:9674488 12079627 GCG glucagon gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:68970 D RGD:9068941 20200609 RGD PMID:24125539|REF_RGD_ID:10402369 12079627 GCG glucagon gene DOID:9352 type 2 diabetes mellitus ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23466488 12079627 GCG glucagon gene DOID:9970 obesity ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20065960 12079637 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:0050866 oral squamous cell carcinoma treatment ISO RGD:1349944 D RGD:9068941 20220526 RGD PMID:21176871|REF_RGD_ID:152600900 12079637 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:1612 breast cancer susceptibility ISO RGD:1349944 D RGD:9068941 20220526 RGD DNA:SNP: :rs989902(human) PMID:24338422|REF_RGD_ID:152599188 12079637 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:219 colon cancer treatment ISO RGD:1349944 D RGD:9068941 20220527 RGD PMID:29899829|REF_RGD_ID:152975627 12079637 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:224 transient cerebral ischemia ISO RGD:1563360 D RGD:9068941 20220527 RGD mRNA,protein:increased expression:cerebral cortex: PMID:18096138|REF_RGD_ID:4142863 12079637 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:3717 gastric adenocarcinoma ISO RGD:1349944 D RGD:9068941 20220526 RGD protein:increased expression:stomach PMID:10660140|REF_RGD_ID:152599189 12079637 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:1349944 D RGD:9068941 20220527 RGD PMID:32536826|REF_RGD_ID:152975628 12079637 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1349944 D RGD:9068941 20220512 RGD mRNA,protein:decreased expression:lung PMID:22245727|REF_RGD_ID:152176663 12079637 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:3907 lung squamous cell carcinoma severity ISO RGD:1349944 D RGD:9068941 20220512 RGD PMID:23906871|REF_RGD_ID:152176664 12079637 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1349944 D RGD:9068941 20220512 RGD DNA:missense mutations:cds:p.I1522M, p.Y2081D (human) PMID:19672627|REF_RGD_ID:152176665 12079637 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:3910 lung adenocarcinoma ISO RGD:1349944 D RGD:9068941 20220512 RGD mRNA,protein:decreased expression:lung PMID:22245727|REF_RGD_ID:152176663 12079637 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1349944 D RGD:9068941 20220527 RGD PMID:33536603|REF_RGD_ID:152975626 12079637 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1349944 D RGD:9068941 20220512 RGD DNA:missense mutations:cds:p.I1522M, p.Y2081D (human) PMID:19672627|REF_RGD_ID:152176665 12079637 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:4556 lung large cell carcinoma ISO RGD:1349944 D RGD:9068941 20220512 RGD mRNA,protein:decreased expression:lung PMID:22245727|REF_RGD_ID:152176663 12079637 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:5520 head and neck squamous cell carcinoma susceptibility ISO RGD:1349944 D RGD:9068941 20220512 RGD DNA:SNPs:cds:c.4566 A>G(I1522M)(rs2230600), c.6241 T>G (Y2081D)(rs989902)(human) PMID:19892796|REF_RGD_ID:152176661 12079637 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:5520 head and neck squamous cell carcinoma susceptibility ISO RGD:1349944 D RGD:9068941 20220512 RGD DNA:missense mutations:cds:p.I1522M, p.Y2081D (human) PMID:19672627|REF_RGD_ID:152176665 12079637 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:630 genetic disease ISO RGD:1349944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079637 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1349944 D RGD:9068941 20220526 RGD PMID:26801674|REF_RGD_ID:152176666 12079637 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1349944 D RGD:9068941 20220526 RGD DNA:SNP: :p.Y2081D(human) PMID:16489062|REF_RGD_ID:152599190 12079637 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1349944 D RGD:9068941 20220512 RGD associated with lung squamous cell carcinoma; protein:decreased expression:lymph node PMID:23906871|REF_RGD_ID:152176664 12079637 PTPN13 protein tyrosine phosphatase non-receptor type 13 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1349944 D RGD:9068941 20220512 RGD DNA:missense mutations:cds:p.I1522M, p.Y2081D (human) PMID:19672627|REF_RGD_ID:152176665 12079702 IL6 interleukin 6 gene DOID:0040084 Streptococcus pneumonia ISO RGD:10802 D RGD:9068941 20201117 RGD protein:increased expression:lung,natural killer cell (mouse) PMID:21887255|REF_RGD_ID:40818252 12079702 IL6 interleukin 6 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:10374863|REF_RGD_ID:11060275 12079702 IL6 interleukin 6 gene DOID:0050589 inflammatory bowel disease ISO RGD:1352582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Crohn disease-associated growth failure, susceptibility to PMID:10720087|PMID:11001912|PMID:11889177|PMID:12519862|PMID:12560873|PMID:12719374|PMID:15070960|PMID:15331795|PMID:15472205|PMID:16150725|PMID:16278864|PMID:17623760|PMID:9769329 12079702 IL6 interleukin 6 gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:18159174|REF_RGD_ID:2317165 12079702 IL6 interleukin 6 gene DOID:0050685 small cell carcinoma disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20592377|REF_RGD_ID:4143263 12079702 IL6 interleukin 6 gene DOID:0050697 chorioamnionitis ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Premature Birth;protein:increased expression:tracheal aspirate fluid: PMID:25011638|REF_RGD_ID:12791291 12079702 IL6 interleukin 6 gene DOID:0050697 chorioamnionitis ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression: cervicovaginal fluid : PMID:25687566|REF_RGD_ID:12792243 12079702 IL6 interleukin 6 gene DOID:0050697 chorioamnionitis ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15547537|REF_RGD_ID:5128667 12079702 IL6 interleukin 6 gene DOID:0050700 cardiomyopathy ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10716473 12079702 IL6 interleukin 6 gene DOID:0050848 obstructive sleep apnea ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20668869|REF_RGD_ID:4143251 12079702 IL6 interleukin 6 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:24625449|REF_RGD_ID:9589120 12079702 IL6 interleukin 6 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 12079702 IL6 interleukin 6 gene DOID:0060180 colitis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22410118|PMID:24548422 12079702 IL6 interleukin 6 gene DOID:0060496 respiratory allergy ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18394133 12079702 IL6 interleukin 6 gene DOID:0060688 arteriovenous malformations of the brain susceptibility ISO RGD:1352582 D RGD:7240710 20230517 OMIM 12079702 IL6 interleukin 6 gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1352582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 12079702 IL6 interleukin 6 gene DOID:0060901 lymphoplasmacytic lymphoma ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs: :rs6952003, rs7801617, rs10156056 (human) PMID:19573080|REF_RGD_ID:11049165 12079702 IL6 interleukin 6 gene DOID:0060901 lymphoplasmacytic lymphoma no_association ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:19573080|REF_RGD_ID:11049165 12079702 IL6 interleukin 6 gene DOID:0080199 colorectal carcinoma treatment ISO RGD:2901 D RGD:9068941 20210611 RGD PMID:29229353|REF_RGD_ID:127284843 12079702 IL6 interleukin 6 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:rs10499563, rs1800795 (human) PMID:27730688|REF_RGD_ID:14975293 12079702 IL6 interleukin 6 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1352582 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver,plasma PMID:18510618|REF_RGD_ID:7829808 12079702 IL6 interleukin 6 gene DOID:0080333 aortic valve disease 1 severity ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:23969418|REF_RGD_ID:12792206 12079702 IL6 interleukin 6 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-174G>C (human) PMID:28852433|REF_RGD_ID:14975143 12079702 IL6 interleukin 6 gene DOID:0080547 non-alcoholic steatohepatitis ameliorates ISO RGD:10802 D RGD:9068941 20210702 RGD PMID:28100771|REF_RGD_ID:127285675 12079702 IL6 interleukin 6 gene DOID:0080599 Coronavirus infectious disease ISO RGD:10802 D RGD:9068941 20200609 RGD Severe Acute Respiratory Syndrome;protein:increased expression:lung PMID:19906920|REF_RGD_ID:4891446 12079702 IL6 interleukin 6 gene DOID:0080600 COVID-19 ISO RGD:1352582 D RGD:9068941 20200618 RGD protein:increased expression:serum: PMID:32416070|REF_RGD_ID:30296676 12079702 IL6 interleukin 6 gene DOID:0080600 COVID-19 ISO RGD:1352582 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 12079702 IL6 interleukin 6 gene DOID:0080600 COVID-19 ISO RGD:1352582 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:32026671|PMID:32161940|PMID:32171193|PMID:32534021 12079702 IL6 interleukin 6 gene DOID:0080600 COVID-19 disease_progression ISO RGD:1352582 D RGD:9068941 20200618 RGD PMID:32407836|REF_RGD_ID:30309206 12079702 IL6 interleukin 6 gene DOID:0080600 COVID-19 disease_progression ISO RGD:1352582 D RGD:9068941 20200618 RGD associated with diabetes mellitus PMID:32345579|REF_RGD_ID:30296681 12079702 IL6 interleukin 6 gene DOID:0080600 COVID-19 severity ISO RGD:1352582 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 12079702 IL6 interleukin 6 gene DOID:0080600 COVID-19 severity ISO RGD:1352582 D RGD:9068941 20200625 RGD associated with cardiovascular system disease;protein:increased expression:blood (human) PMID:32456948|REF_RGD_ID:30309957 12079702 IL6 interleukin 6 gene DOID:0080600 COVID-19 severity ISO RGD:1352582 D RGD:9068941 20200625 RGD protein:increased expression:blood (human) PMID:32181911|REF_RGD_ID:30310230 12079702 IL6 interleukin 6 gene DOID:0080600 COVID-19 severity ISO RGD:1352582 D RGD:9068941 20200723 RGD protein:increased expression:serum (human) PMID:32125452|PMID:32164089|PMID:32227274|PMID:32297828|PMID:32365221|PMID:32427582|PMID:32434211|REF_RGD_ID:27095965|REF_RGD_ID:27226695|REF_RGD_ID:30309200|REF_RGD_ID:30310229|REF_RGD_ID:30310238|REF_RGD_ID:32716368|REF_RGD_ID:36049814 12079702 IL6 interleukin 6 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:10802 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 12079702 IL6 interleukin 6 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:10802 D RGD:9068941 20200618 RGD PMID:30626685|REF_RGD_ID:30309198 12079702 IL6 interleukin 6 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:10802 D RGD:9068941 20200625 RGD protein:increased expression:serum: PMID:30634407|REF_RGD_ID:30309958 12079702 IL6 interleukin 6 gene DOID:0080743 transverse myelitis ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum, cerebral spinal fluid: PMID:20128675|REF_RGD_ID:7829722 12079702 IL6 interleukin 6 gene DOID:0080745 polymyositis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12079702 IL6 interleukin 6 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:19050604|REF_RGD_ID:11062108 12079702 IL6 interleukin 6 gene DOID:0080998 acute necrotizing pancreatitis treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:11780340|REF_RGD_ID:11062058 12079702 IL6 interleukin 6 gene DOID:0111157 Castleman disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15182131 12079702 IL6 interleukin 6 gene DOID:10140 dry eye syndrome susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with arthritis,rehumatoid arthritis;DNA:polymorphims:promoter:-174G>C(human) PMID:18419107|REF_RGD_ID:7829751 12079702 IL6 interleukin 6 gene DOID:10247 pleurisy ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422 12079702 IL6 interleukin 6 gene DOID:10322 berylliosis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8428540 12079702 IL6 interleukin 6 gene DOID:10534 stomach cancer ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:30610790|REF_RGD_ID:14975253 12079702 IL6 interleukin 6 gene DOID:10534 stomach cancer ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNP: :rs2069837 (human) PMID:27049718|REF_RGD_ID:14975290 12079702 IL6 interleukin 6 gene DOID:10534 stomach cancer ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1800796, rs10499563 (human) PMID:28442395|REF_RGD_ID:14975291 12079702 IL6 interleukin 6 gene DOID:10534 stomach cancer ISO RGD:1352582 D RGD:9068941 20210528 RGD human cells in mouse model;associated with mental depression; protein:increased expression:blood serum, stomach (human) PMID:31396300|REF_RGD_ID:126908003 12079702 IL6 interleukin 6 gene DOID:10534 stomach cancer no_association ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs: :rs6949149 (human) PMID:28442395|REF_RGD_ID:14975291 12079702 IL6 interleukin 6 gene DOID:10591 pre-eclampsia ameliorates ISO RGD:2901 D RGD:9068941 20230323 RGD PMID:31203154|REF_RGD_ID:213230155 12079702 IL6 interleukin 6 gene DOID:10608 celiac disease ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; DNA:polymorphism:promoter:-174G>C (human) PMID:18692934|REF_RGD_ID:2307292 12079702 IL6 interleukin 6 gene DOID:10652 Alzheimer's disease treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:27088818|REF_RGD_ID:11062148 12079702 IL6 interleukin 6 gene DOID:1073 renal hypertension ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22188107|REF_RGD_ID:6907405 12079702 IL6 interleukin 6 gene DOID:10754 otitis media ISO RGD:10802 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:middle ear,inner ear: PMID:21271590|REF_RGD_ID:8547980 12079702 IL6 interleukin 6 gene DOID:10754 otitis media ISO RGD:2901 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:middle ear: PMID:11165648|REF_RGD_ID:7829801 12079702 IL6 interleukin 6 gene DOID:10754 otitis media ISO RGD:8766282 D RGD:9068941 20200609 RGD PMID:10085040|REF_RGD_ID:11553900 12079702 IL6 interleukin 6 gene DOID:10754 otitis media susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-174G>C(human) PMID:17908769|REF_RGD_ID:7365054 12079702 IL6 interleukin 6 gene DOID:10763 hypertension ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) PMID:19043252|REF_RGD_ID:2307283 12079702 IL6 interleukin 6 gene DOID:10763 hypertension ISO RGD:1352582 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:27292124|PMID:27659729|PMID:27847271|PMID:32147540|PMID:32165127 12079702 IL6 interleukin 6 gene DOID:10763 hypertension susceptibility ISO RGD:1352582 D RGD:9068941 20200806 RGD associated with end stage renal disease; DNA:polymorphisms:promoter: -174G>C (human) PMID:12846758|REF_RGD_ID:1580485 12079702 IL6 interleukin 6 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor: PMID:22490043|REF_RGD_ID:7829793 12079702 IL6 interleukin 6 gene DOID:10914 amnestic disorder ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9189931 12079702 IL6 interleukin 6 gene DOID:10941 intracranial aneurysm ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:16648144|REF_RGD_ID:1580488 12079702 IL6 interleukin 6 gene DOID:10964 cholesteatoma of middle ear ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Otitis Media;protein:increased expression:ear: PMID:21311206|REF_RGD_ID:7364848 12079702 IL6 interleukin 6 gene DOID:10964 cholesteatoma of middle ear ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:ear: PMID:8652157|REF_RGD_ID:7829727 12079702 IL6 interleukin 6 gene DOID:11168 anogenital venereal wart ISO RGD:1352582 D RGD:9068941 20201105 RGD protein:decreased expression:peripheral blood mononuclear cells (human) PMID:23754510|REF_RGD_ID:40400714 12079702 IL6 interleukin 6 gene DOID:1123 spondyloarthropathy ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:9489833|REF_RGD_ID:7829742 12079702 IL6 interleukin 6 gene DOID:11247 disseminated intravascular coagulation ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16613997|REF_RGD_ID:11049462 12079702 IL6 interleukin 6 gene DOID:11247 disseminated intravascular coagulation ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:16932226|REF_RGD_ID:11062099 12079702 IL6 interleukin 6 gene DOID:11247 disseminated intravascular coagulation severity ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Hemorrhagic Fever, Crimean PMID:16518755|REF_RGD_ID:10450536 12079702 IL6 interleukin 6 gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:16810104|REF_RGD_ID:11060278 12079702 IL6 interleukin 6 gene DOID:11446 sciatic neuropathy ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion PMID:20519054|REF_RGD_ID:5128675 12079702 IL6 interleukin 6 gene DOID:11476 osteoporosis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15995586 12079702 IL6 interleukin 6 gene DOID:11563 retinal vasculitis ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:19834028|REF_RGD_ID:11039401 12079702 IL6 interleukin 6 gene DOID:11714 gestational diabetes ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:extracellular space (human) PMID:19408175|REF_RGD_ID:2307186 12079702 IL6 interleukin 6 gene DOID:11716 prediabetes syndrome ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:extracellular space (human) PMID:19442860|REF_RGD_ID:2307180 12079702 IL6 interleukin 6 gene DOID:11758 iron deficiency anemia ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic;protein:increased expression:heart, kidney (rat) PMID:18808386|REF_RGD_ID:11062011 12079702 IL6 interleukin 6 gene DOID:1205 allergic disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12079702 IL6 interleukin 6 gene DOID:12157 aseptic meningitis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10888991 12079702 IL6 interleukin 6 gene DOID:12241 beta thalassemia ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23905873|REF_RGD_ID:11041617 12079702 IL6 interleukin 6 gene DOID:12361 Graves' disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 12079702 IL6 interleukin 6 gene DOID:12361 Graves' disease ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-572C>G(human) PMID:21235536|REF_RGD_ID:7829719 12079702 IL6 interleukin 6 gene DOID:12361 Graves' disease disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:12818091|REF_RGD_ID:7829750 12079702 IL6 interleukin 6 gene DOID:12466 secondary hyperparathyroidism ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21350317 12079702 IL6 interleukin 6 gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15384034 12079702 IL6 interleukin 6 gene DOID:12678 hypercalcemia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10638776 12079702 IL6 interleukin 6 gene DOID:12704 ataxia telangiectasia severity ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:26851119|REF_RGD_ID:11529801 12079702 IL6 interleukin 6 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Otitis media;protein:increased expression:serum: PMID:19352211|REF_RGD_ID:8142352 12079702 IL6 interleukin 6 gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus PMID:20622030|REF_RGD_ID:4143259 12079702 IL6 interleukin 6 gene DOID:12835 quadriplegia susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with males:DNA:SNPs, haplotype: : rs1800796, rs2069837(human) PMID:23415255|REF_RGD_ID:12792240 12079702 IL6 interleukin 6 gene DOID:12849 autistic disorder ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8964908 12079702 IL6 interleukin 6 gene DOID:12849 autistic disorder treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:26418275|REF_RGD_ID:12792236 12079702 IL6 interleukin 6 gene DOID:12858 Huntington's disease treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:11860469|REF_RGD_ID:10402809 12079702 IL6 interleukin 6 gene DOID:1289 neurodegenerative disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12836160 12079702 IL6 interleukin 6 gene DOID:12894 Sjogren's syndrome ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:11426023|REF_RGD_ID:7829718 12079702 IL6 interleukin 6 gene DOID:12894 Sjogren's syndrome severity ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphims:promoter:-174G>C(human) PMID:11426023|REF_RGD_ID:7829718 12079702 IL6 interleukin 6 gene DOID:12895 keratoconjunctivitis sicca ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Sjogren's Syndrome;mRNA,protein:increased expression:conjunctiva: PMID:10487957|REF_RGD_ID:7829756 12079702 IL6 interleukin 6 gene DOID:13141 uveitis ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:1544781|REF_RGD_ID:7829806 12079702 IL6 interleukin 6 gene DOID:13141 uveitis ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;protein:increased expression:serum: PMID:15209464|REF_RGD_ID:7387294 12079702 IL6 interleukin 6 gene DOID:13141 uveitis ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor: PMID:10420202|REF_RGD_ID:7829723 12079702 IL6 interleukin 6 gene DOID:13141 uveitis ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:eye PMID:1544781|REF_RGD_ID:7829806 12079702 IL6 interleukin 6 gene DOID:13197 nodular goiter ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 12079702 IL6 interleukin 6 gene DOID:13241 Behcet's disease ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased secretion:monocyte: PMID:8164212|REF_RGD_ID:7829752 12079702 IL6 interleukin 6 gene DOID:13580 cholestasis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461449 12079702 IL6 interleukin 6 gene DOID:13593 eclampsia treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:27106269|REF_RGD_ID:11062145 12079702 IL6 interleukin 6 gene DOID:13619 extrahepatic cholestasis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 12079702 IL6 interleukin 6 gene DOID:1389 polyneuropathy ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) PMID:19131463|REF_RGD_ID:2307274 12079702 IL6 interleukin 6 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 12079702 IL6 interleukin 6 gene DOID:14115 toxic shock syndrome treatment ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:2124237|REF_RGD_ID:11060276 12079702 IL6 interleukin 6 gene DOID:14330 Parkinson's disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21318773 12079702 IL6 interleukin 6 gene DOID:1470 major depressive disorder ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNP, haplotype:promoter:-174G>C (human) PMID:30734130|REF_RGD_ID:14975122 12079702 IL6 interleukin 6 gene DOID:1474 aggressive periodontitis ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-174G>C (human) PMID:28662328|REF_RGD_ID:14975139 12079702 IL6 interleukin 6 gene DOID:1485 cystic fibrosis ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:16403491|REF_RGD_ID:5128672 12079702 IL6 interleukin 6 gene DOID:1485 cystic fibrosis ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20438838|REF_RGD_ID:4143275 12079702 IL6 interleukin 6 gene DOID:1532 pleural disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21357438 12079702 IL6 interleukin 6 gene DOID:1580 diffuse scleroderma treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:20338043|REF_RGD_ID:12792275 12079702 IL6 interleukin 6 gene DOID:1588 thrombocytopenia severity ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Malaria, Vivax PMID:25128199|REF_RGD_ID:11041893 12079702 IL6 interleukin 6 gene DOID:1596 depressive disorder ISO RGD:10802 D RGD:9068941 20210507 RGD protein:increased expression:serum, hippocampus (mouse) PMID:31396300|REF_RGD_ID:126908003 12079702 IL6 interleukin 6 gene DOID:1596 depressive disorder ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18458677 12079702 IL6 interleukin 6 gene DOID:1596 depressive disorder ISO RGD:1352582 D RGD:9068941 20200924 RGD associated with Chronic Hepatitis C; DNA:insertion/deletion:promoter: PMID:23571152|REF_RGD_ID:38676480 12079702 IL6 interleukin 6 gene DOID:1596 depressive disorder ISO RGD:1352582 D RGD:9068941 20210528 RGD associated with gastric adenocarcinoma; protein:increased expression:blood serum (human) PMID:31396300|REF_RGD_ID:126908003 12079702 IL6 interleukin 6 gene DOID:1596 depressive disorder ISO RGD:2901 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:23589140|REF_RGD_ID:10402829 12079702 IL6 interleukin 6 gene DOID:1596 depressive disorder ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:27106565|REF_RGD_ID:11062144 12079702 IL6 interleukin 6 gene DOID:1596 depressive disorder treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNP:promoter:-174G>C (human) PMID:28083615|REF_RGD_ID:14975286 12079702 IL6 interleukin 6 gene DOID:1612 breast cancer susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism::rs2069832(human) PMID:17594514|REF_RGD_ID:7829720 12079702 IL6 interleukin 6 gene DOID:1687 neovascular glaucoma disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Retinal Vein Occlusion;protein:increased expression:aqueous humor: PMID:10509659|REF_RGD_ID:7829814 12079702 IL6 interleukin 6 gene DOID:1727 retinal vein occlusion ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:21487926|REF_RGD_ID:5490120 12079702 IL6 interleukin 6 gene DOID:1749 squamous cell carcinoma ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26372664 12079702 IL6 interleukin 6 gene DOID:1790 malignant mesothelioma ISO RGD:1352582 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 12079702 IL6 interleukin 6 gene DOID:1793 pancreatic cancer ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:30610790|REF_RGD_ID:14975253 12079702 IL6 interleukin 6 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:30304975|REF_RGD_ID:14975257 12079702 IL6 interleukin 6 gene DOID:1826 epilepsy ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:brain,plasma PMID:28303499|REF_RGD_ID:13524859 12079702 IL6 interleukin 6 gene DOID:1875 impotence treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:21492407|REF_RGD_ID:10402827 12079702 IL6 interleukin 6 gene DOID:1875 impotence treatment ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:24467772|REF_RGD_ID:9495931 12079702 IL6 interleukin 6 gene DOID:1883 hepatitis C ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1474348, rs1800796, rs1800797 (human) PMID:28340949|REF_RGD_ID:14975144 12079702 IL6 interleukin 6 gene DOID:1883 hepatitis C no_association ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:28340949|REF_RGD_ID:14975144 12079702 IL6 interleukin 6 gene DOID:1924 hypogonadism ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:20221887|REF_RGD_ID:2317160 12079702 IL6 interleukin 6 gene DOID:1936 atherosclerosis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19330073 12079702 IL6 interleukin 6 gene DOID:1936 atherosclerosis ameliorates ISO RGD:10802 D RGD:9068941 20230330 RGD PMID:35854140|REF_RGD_ID:242905195 12079702 IL6 interleukin 6 gene DOID:1993 rectum cancer treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:28272402|REF_RGD_ID:14975288 12079702 IL6 interleukin 6 gene DOID:2018 hyperinsulinism ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) PMID:19375766|REF_RGD_ID:2307250 12079702 IL6 interleukin 6 gene DOID:2043 hepatitis B ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-174C>G (human) PMID:27268603|REF_RGD_ID:14975295 12079702 IL6 interleukin 6 gene DOID:2048 autoimmune hepatitis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 12079702 IL6 interleukin 6 gene DOID:2316 brain ischemia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914|PMID:17394460 12079702 IL6 interleukin 6 gene DOID:2355 anemia ISO RGD:10802 D RGD:9068941 20200609 RGD associated with Colonic Neoplasms;protein:increased expression:serum (mouse) PMID:19265263|REF_RGD_ID:11060277 12079702 IL6 interleukin 6 gene DOID:2355 anemia ISO RGD:10802 D RGD:9068941 20200609 RGD associated with Inflammation PMID:24357729|REF_RGD_ID:11041614 12079702 IL6 interleukin 6 gene DOID:2377 multiple sclerosis ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:24155968|REF_RGD_ID:12792202 12079702 IL6 interleukin 6 gene DOID:2377 multiple sclerosis severity ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-572 G>C(human) PMID:23202972|REF_RGD_ID:12791288 12079702 IL6 interleukin 6 gene DOID:2377 multiple sclerosis treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-174G>C(human) PMID:26285213|REF_RGD_ID:11079567 12079702 IL6 interleukin 6 gene DOID:2513 basal cell carcinoma ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22108589 12079702 IL6 interleukin 6 gene DOID:26 pancreas disease ISO RGD:10802 D RGD:9068941 20200609 RGD insulitis associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (mouse) PMID:18772604|REF_RGD_ID:2307287 12079702 IL6 interleukin 6 gene DOID:2797 idiopathic interstitial pneumonia ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar lavage (rat) PMID:10988147|REF_RGD_ID:11062092 12079702 IL6 interleukin 6 gene DOID:2799 bronchiolitis obliterans ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:20393404|REF_RGD_ID:4143277 12079702 IL6 interleukin 6 gene DOID:2841 asthma ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:20840469|PMID:21115736|REF_RGD_ID:4143265|REF_RGD_ID:5128630 12079702 IL6 interleukin 6 gene DOID:2841 asthma ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29902480 12079702 IL6 interleukin 6 gene DOID:2841 asthma ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Hypersensitivity;protein:increased expression:sputum PMID:20816188|REF_RGD_ID:4143266 12079702 IL6 interleukin 6 gene DOID:2841 asthma ISO RGD:2901 D RGD:9068941 20211126 RGD protein:increased expression:lung PMID:20658762|REF_RGD_ID:4143271 12079702 IL6 interleukin 6 gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-174G>C (human) PMID:15718915|REF_RGD_ID:11049178 12079702 IL6 interleukin 6 gene DOID:2921 glomerulonephritis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9403216 12079702 IL6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome ISO RGD:10802 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 12079702 IL6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1352582 D RGD:9068941 20200702 RGD protein:increased expression:bronchoalveolar lavage (human) PMID:15888207|REF_RGD_ID:34201108 12079702 IL6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1352582 D RGD:9068941 20200702 RGD protein:increased expression:serum (human) PMID:15271897|REF_RGD_ID:32716401 12079702 IL6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome ISO RGD:2901 D RGD:9068941 20200702 RGD protein:increased expression:serum, Bronchoalveolar Lavage fluid (rat) PMID:16409721|REF_RGD_ID:32726073 12079702 IL6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1352582 D RGD:9068941 20200702 RGD protein:increased expression:blood (human) PMID:15472864|REF_RGD_ID:34888224 12079702 IL6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1352582 D RGD:9068941 20200619 RGD protein:increased expression:serum (human) PMID:15657466|REF_RGD_ID:30309219 12079702 IL6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:10802 D RGD:9068941 20230302 RGD PMID:32553273|REF_RGD_ID:32716426 12079702 IL6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1352582 D RGD:9068941 20230302 RGD PMID:15865221|REF_RGD_ID:33769580 12079702 IL6 interleukin 6 gene DOID:2957 pulmonary tuberculosis ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:20624776|REF_RGD_ID:4143257 12079702 IL6 interleukin 6 gene DOID:2987 familial Mediterranean fever ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20518740|REF_RGD_ID:5686880 12079702 IL6 interleukin 6 gene DOID:3021 acute kidney failure ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21570986 12079702 IL6 interleukin 6 gene DOID:3021 acute kidney failure ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Acute Lung Injury;protein:increased expression:plasma PMID:18074478|REF_RGD_ID:5128661 12079702 IL6 interleukin 6 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28864214|PMID:29329563|PMID:31349846 12079702 IL6 interleukin 6 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20819268|REF_RGD_ID:4143243 12079702 IL6 interleukin 6 gene DOID:3087 gingivitis ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; protein:increased expression:extracellular space (human) PMID:19186972|REF_RGD_ID:2307265 12079702 IL6 interleukin 6 gene DOID:319 spinal cord disease ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:30327453|REF_RGD_ID:14975119 12079702 IL6 interleukin 6 gene DOID:3229 gastric dilatation ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:30249047|REF_RGD_ID:14975138 12079702 IL6 interleukin 6 gene DOID:326 ischemia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18091701 12079702 IL6 interleukin 6 gene DOID:331 central nervous system disease ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Behcet Snydorme;protein:increased activity:cerebral spinal fluid: PMID:9000037|REF_RGD_ID:7829731 12079702 IL6 interleukin 6 gene DOID:3310 atopic dermatitis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 12079702 IL6 interleukin 6 gene DOID:3388 periodontal disease ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; DNA:polymorphism:promoter:-174G>C (human) PMID:19017034|REF_RGD_ID:2307284 12079702 IL6 interleukin 6 gene DOID:3388 periodontal disease severity ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:17286759|REF_RGD_ID:1601585 12079702 IL6 interleukin 6 gene DOID:3393 coronary artery disease ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) PMID:19368923|REF_RGD_ID:2307251 12079702 IL6 interleukin 6 gene DOID:341 peripheral vascular disease ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X; protein:increased expression:extracellular space (human) PMID:19397692|REF_RGD_ID:2307191 12079702 IL6 interleukin 6 gene DOID:3525 middle cerebral artery infarction ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626|PMID:21940958|PMID:25257527 12079702 IL6 interleukin 6 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:29498696|REF_RGD_ID:13792833 12079702 IL6 interleukin 6 gene DOID:3526 cerebral infarction treatment ISO RGD:10802 D RGD:9068941 20220930 RGD PMID:29111308|REF_RGD_ID:155260331 12079702 IL6 interleukin 6 gene DOID:37 skin disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 12079702 IL6 interleukin 6 gene DOID:3717 gastric adenocarcinoma ISO RGD:1352582 D RGD:9068941 20210507 RGD protein:increased expression:blood serum (human) PMID:31396300|REF_RGD_ID:126908003 12079702 IL6 interleukin 6 gene DOID:3770 pulmonary fibrosis ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:20846163|REF_RGD_ID:4143241 12079702 IL6 interleukin 6 gene DOID:3770 pulmonary fibrosis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17266442|PMID:25216247 12079702 IL6 interleukin 6 gene DOID:3825 Shwartzman phenomenon treatment ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:1381315|REF_RGD_ID:11060272 12079702 IL6 interleukin 6 gene DOID:417 autoimmune disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19077085 12079702 IL6 interleukin 6 gene DOID:418 systemic scleroderma treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:23406616|REF_RGD_ID:12792238 12079702 IL6 interleukin 6 gene DOID:4195 hyperglycemia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 12079702 IL6 interleukin 6 gene DOID:4195 hyperglycemia ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (human) PMID:18608123|REF_RGD_ID:2307291 12079702 IL6 interleukin 6 gene DOID:4195 hyperglycemia ISO RGD:1352582 D RGD:9068941 20200609 RGD fasting glucose associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphism:promoter:-174G>C (human) PMID:18752089|REF_RGD_ID:2307290 12079702 IL6 interleukin 6 gene DOID:4251 conjunctival disease ISO RGD:1352582 D RGD:9068941 20200609 RGD conjunctivochalasis;protein:increased expression:tear: PMID:19158563|REF_RGD_ID:7829815 12079702 IL6 interleukin 6 gene DOID:4449 macular retinal edema ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Retinal vein occlusion;protein:increased expression:vitreous: PMID:22066978|REF_RGD_ID:7829760 12079702 IL6 interleukin 6 gene DOID:4449 macular retinal edema ISO RGD:1352582 D RGD:9068941 20221014 RGD associated with central retinal vein occlusion;protein:increased expression:aqueous humor of eyeball (human) PMID:35799735|REF_RGD_ID:155582223 12079702 IL6 interleukin 6 gene DOID:4450 renal cell carcinoma ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7834629 12079702 IL6 interleukin 6 gene DOID:4677 keratitis susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:promoter:-174 G>C,−572 C/G(human) PMID:22503230|REF_RGD_ID:7829772 12079702 IL6 interleukin 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12079702 IL6 interleukin 6 gene DOID:4947 cholangiocarcinoma ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17621267 12079702 IL6 interleukin 6 gene DOID:4947 cholangiocarcinoma ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:15011822|REF_RGD_ID:2317167 12079702 IL6 interleukin 6 gene DOID:4947 cholangiocarcinoma ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:28925763|REF_RGD_ID:14975292 12079702 IL6 interleukin 6 gene DOID:5082 liver cirrhosis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12830005 12079702 IL6 interleukin 6 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:1768380|REF_RGD_ID:10449449 12079702 IL6 interleukin 6 gene DOID:5327 retinal detachment ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Retinal vein occlusion;protein:increased expression:aqueous humor,vitreous fluid: PMID:21978265|REF_RGD_ID:7829821 12079702 IL6 interleukin 6 gene DOID:5327 retinal detachment ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:vitreous: PMID:1800167|REF_RGD_ID:7829748 12079702 IL6 interleukin 6 gene DOID:5419 schizophrenia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8067274 12079702 IL6 interleukin 6 gene DOID:5425 ovarian hyperstimulation syndrome ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum, ascites (human) PMID:9322101|REF_RGD_ID:11062135 12079702 IL6 interleukin 6 gene DOID:5463 cochlear disease ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:29304389|REF_RGD_ID:13792837 12079702 IL6 interleukin 6 gene DOID:552 pneumonia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12079702 IL6 interleukin 6 gene DOID:552 pneumonia disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:20595152|REF_RGD_ID:4140400 12079702 IL6 interleukin 6 gene DOID:574 peripheral nervous system disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18270703 12079702 IL6 interleukin 6 gene DOID:576 proteinuria ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:extracellular space (human) PMID:19377212|REF_RGD_ID:2307194 12079702 IL6 interleukin 6 gene DOID:5773 oral submucous fibrosis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28984080 12079702 IL6 interleukin 6 gene DOID:5844 myocardial infarction ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15883752|PMID:16310260 12079702 IL6 interleukin 6 gene DOID:6000 congestive heart failure ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15135663|PMID:16360360 12079702 IL6 interleukin 6 gene DOID:6000 congestive heart failure ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:28939262|REF_RGD_ID:14975271 12079702 IL6 interleukin 6 gene DOID:6000 congestive heart failure ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat) PMID:18999900|REF_RGD_ID:2307285 12079702 IL6 interleukin 6 gene DOID:6000 congestive heart failure ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA:increased expression:heart PMID:18280594|REF_RGD_ID:5128682 12079702 IL6 interleukin 6 gene DOID:630 genetic disease ISO RGD:1352582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079702 IL6 interleukin 6 gene DOID:6432 pulmonary hypertension ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:20693255|REF_RGD_ID:4143246 12079702 IL6 interleukin 6 gene DOID:6432 pulmonary hypertension disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:20713898|REF_RGD_ID:4142530 12079702 IL6 interleukin 6 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:9489833|REF_RGD_ID:7829742 12079702 IL6 interleukin 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17615358|PMID:20818158|PMID:26297436|PMID:27022031 12079702 IL6 interleukin 6 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:10802 D RGD:9068941 20210423 RGD mRNA,protein:increased expression:liver, blood serum (mouse) PMID:26569409|REF_RGD_ID:11344640 12079702 IL6 interleukin 6 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNP: :rs2069852 (human) PMID:27368337|REF_RGD_ID:14975289 12079702 IL6 interleukin 6 gene DOID:699 mitochondrial myopathy ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12079702 IL6 interleukin 6 gene DOID:7147 ankylosing spondylitis ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:26339141|REF_RGD_ID:12792209 12079702 IL6 interleukin 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274|PMID:22450443 12079702 IL6 interleukin 6 gene DOID:7188 autoimmune thyroiditis severity ISO RGD:10802 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (mouse) PMID:19301205|REF_RGD_ID:2307256 12079702 IL6 interleukin 6 gene DOID:783 end stage renal disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19539174 12079702 IL6 interleukin 6 gene DOID:801 hemarthrosis treatment ISO RGD:10802 D RGD:9068941 20200609 RGD associated with Hemophilia A PMID:23413986|REF_RGD_ID:11060150 12079702 IL6 interleukin 6 gene DOID:820 myocarditis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25396421 12079702 IL6 interleukin 6 gene DOID:824 periodontitis susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD chronic periodontitis PMID:17209781|REF_RGD_ID:1601588 12079702 IL6 interleukin 6 gene DOID:824 periodontitis treatment ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:27795360|REF_RGD_ID:14975132 12079702 IL6 interleukin 6 gene DOID:8283 peritonitis ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:26601826|REF_RGD_ID:14975296 12079702 IL6 interleukin 6 gene DOID:8463 corneal ulcer ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Arthritis,Rheumatoid;mRNA:increased expression:keratocyte: PMID:12714388|REF_RGD_ID:7829721 12079702 IL6 interleukin 6 gene DOID:8483 retinal artery occlusion ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:19421412|REF_RGD_ID:7829809 12079702 IL6 interleukin 6 gene DOID:8483 retinal artery occlusion susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism>promoter:-174G>C(human) PMID:15604420|REF_RGD_ID:7829798 12079702 IL6 interleukin 6 gene DOID:850 lung disease ISO RGD:10802 D RGD:9068941 20200609 RGD Acute Lung Injury associated with Endotoxemia;protein:increased expression:lung PMID:20639460|REF_RGD_ID:4143256 12079702 IL6 interleukin 6 gene DOID:850 lung disease ISO RGD:10802 D RGD:9068941 20200609 RGD Acute Lung Injury associated with Sepsis PMID:20845074|REF_RGD_ID:4143242 12079702 IL6 interleukin 6 gene DOID:850 lung disease ISO RGD:10802 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury;protein:increased expression:lung PMID:20683250|REF_RGD_ID:4143249 12079702 IL6 interleukin 6 gene DOID:850 lung disease ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15547537|REF_RGD_ID:5128667 12079702 IL6 interleukin 6 gene DOID:850 lung disease ISO RGD:2901 D RGD:9068941 20200609 RGD Acute Lung Injury associated with Pancreatitis PMID:20709317|REF_RGD_ID:5134961 12079702 IL6 interleukin 6 gene DOID:850 lung disease severity ISO RGD:2901 D RGD:9068941 20200609 RGD Acute Lung Injury;mRNA:increased expression:lung PMID:20818231|REF_RGD_ID:4143244 12079702 IL6 interleukin 6 gene DOID:8567 Hodgkin's lymphoma ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:19573080|REF_RGD_ID:11049165 12079702 IL6 interleukin 6 gene DOID:8567 Hodgkin's lymphoma treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:21466366|REF_RGD_ID:11049168 12079702 IL6 interleukin 6 gene DOID:8574 lichen disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18393961 12079702 IL6 interleukin 6 gene DOID:8632 Kaposi's sarcoma ISO RGD:1352582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kaposi's sarcoma PMID:10720087|PMID:11001912|PMID:11889177|PMID:12519862|PMID:12560873|PMID:12719374|PMID:15070960|PMID:15331795|PMID:15472205|PMID:16150725|PMID:16278864|PMID:17623760|PMID:9769329 12079702 IL6 interleukin 6 gene DOID:8632 Kaposi's sarcoma susceptibility ISO RGD:1352582 D RGD:7240710 20230517 OMIM 12079702 IL6 interleukin 6 gene DOID:8677 perinatal necrotizing enterocolitis treatment ISO RGD:2901 D RGD:9068941 20211126 RGD PMID:20501441|REF_RGD_ID:2324672 12079702 IL6 interleukin 6 gene DOID:874 bacterial pneumonia severity ISO RGD:10802 D RGD:9068941 20200820 RGD PMID:25398094|REF_RGD_ID:38501102 12079702 IL6 interleukin 6 gene DOID:8778 Crohn's disease ISO RGD:1352582 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:10700533|PMID:21829567 12079702 IL6 interleukin 6 gene DOID:8778 Crohn's disease susceptibility ISO RGD:1352582 D RGD:7240710 20230517 OMIM 12079702 IL6 interleukin 6 gene DOID:8869 neuromyelitis optica severity ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum, cerebral spinal fluid: PMID:20128675|REF_RGD_ID:7829722 12079702 IL6 interleukin 6 gene DOID:8893 psoriasis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844318 12079702 IL6 interleukin 6 gene DOID:8927 learning disability disease_progression ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:9037082|REF_RGD_ID:7829733 12079702 IL6 interleukin 6 gene DOID:893 Wilson disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25002079 12079702 IL6 interleukin 6 gene DOID:8947 diabetic retinopathy ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) PMID:18988929|REF_RGD_ID:2307272 12079702 IL6 interleukin 6 gene DOID:8947 diabetic retinopathy ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Typpe 1;protein:increased expression:serum: PMID:17725274|REF_RGD_ID:7829749 12079702 IL6 interleukin 6 gene DOID:8947 diabetic retinopathy ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; DNA:polymorphism:promoter:-174G>C (human) PMID:19140096|REF_RGD_ID:2307267 12079702 IL6 interleukin 6 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type1;DNA:polymorphism:promoter:-174G>C(human) PMID:19542902|REF_RGD_ID:7829816 12079702 IL6 interleukin 6 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:27085942|PMID:29691718|REF_RGD_ID:11062150|REF_RGD_ID:14975124 12079702 IL6 interleukin 6 gene DOID:9000053 Headache ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7537110 12079702 IL6 interleukin 6 gene DOID:9000099 Experimental Colitis ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:16630696|REF_RGD_ID:8662978 12079702 IL6 interleukin 6 gene DOID:9000099 Experimental Colitis treatment ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:27096537|REF_RGD_ID:11062146 12079702 IL6 interleukin 6 gene DOID:9000099 Experimental Colitis treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:16133010|REF_RGD_ID:11062139 12079702 IL6 interleukin 6 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:25443778|REF_RGD_ID:9831197 12079702 IL6 interleukin 6 gene DOID:9000113 Pneumococcal Meningitis treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:11581077|PMID:8943431|REF_RGD_ID:11060264|REF_RGD_ID:11062107 12079702 IL6 interleukin 6 gene DOID:9000197 Edema ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 12079702 IL6 interleukin 6 gene DOID:9000197 Edema ISO RGD:1352582 D RGD:9068941 20200609 RGD diabetic macular edema associated with Diabetes Mellitus; protein:increased expression:extracellular space (human) PMID:19118698|REF_RGD_ID:2306981 12079702 IL6 interleukin 6 gene DOID:9000217 Stomach Neoplasms ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23593346 12079702 IL6 interleukin 6 gene DOID:9000220 Coxsackievirus Infections ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25396421 12079702 IL6 interleukin 6 gene DOID:9000310 Lung Injury ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19762220 12079702 IL6 interleukin 6 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27157545 12079702 IL6 interleukin 6 gene DOID:9000540 HIV Wasting Syndrome ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12079702 IL6 interleukin 6 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352582 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:21937440|PMID:26101800 12079702 IL6 interleukin 6 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1352582 D RGD:9068941 20210611 RGD associated with stomach cancer, human cells in mouse model PMID:28186964|REF_RGD_ID:127229952 12079702 IL6 interleukin 6 gene DOID:9000972 Fever ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11852909|PMID:15384034|PMID:7537110 12079702 IL6 interleukin 6 gene DOID:9000972 Fever ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:22042912|REF_RGD_ID:7241096 12079702 IL6 interleukin 6 gene DOID:9000998 Brain Injuries ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19800810|PMID:21549006|PMID:23159883 12079702 IL6 interleukin 6 gene DOID:9000998 Brain Injuries ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (rat) PMID:10027774|REF_RGD_ID:11049549 12079702 IL6 interleukin 6 gene DOID:9001103 Heat Stress Disorders ISO RGD:2901 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:23993269|REF_RGD_ID:11060279 12079702 IL6 interleukin 6 gene DOID:9001191 Cadmium Poisoning ISO RGD:2901 D RGD:9068941 20200609 RGD in males;protein:increased expression, increased activity:plasma (rat) PMID:19462680|REF_RGD_ID:11060270 12079702 IL6 interleukin 6 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:21492407|REF_RGD_ID:10402827 12079702 IL6 interleukin 6 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28864214 12079702 IL6 interleukin 6 gene DOID:9001488 Human Influenza ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:20731583|REF_RGD_ID:4143268 12079702 IL6 interleukin 6 gene DOID:9001542 Albuminuria ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17167242 12079702 IL6 interleukin 6 gene DOID:9001553 Spinal Cord Compression ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid, serum PMID:30327453|REF_RGD_ID:14975119 12079702 IL6 interleukin 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:10802 D RGD:9068941 20201023 RGD mRNA:increased expression:liver (mouse) PMID:28465467|REF_RGD_ID:39939037 12079702 IL6 interleukin 6 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2901 D RGD:9068941 20220331 RGD PMID:24383550|PMID:30346985|REF_RGD_ID:10450610|REF_RGD_ID:151665755 12079702 IL6 interleukin 6 gene DOID:9001585 Intraventricular Hemorrhage ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Premature Birth;protein:increased expression:serum: PMID:22906886|REF_RGD_ID:12792208 12079702 IL6 interleukin 6 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 12079702 IL6 interleukin 6 gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:10802 D RGD:9068941 20210423 RGD protein:increased expression:blood serum (mouse) PMID:26569409|REF_RGD_ID:11344640 12079702 IL6 interleukin 6 gene DOID:9001600 Wounds and Injuries ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 12079702 IL6 interleukin 6 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23305094 12079702 IL6 interleukin 6 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1352582 D RGD:9068941 20220922 RGD protein:increased expression:blood serum (human) PMID:32178736|REF_RGD_ID:155230830 12079702 IL6 interleukin 6 gene DOID:9001686 Acute Coronary Syndrome treatment ISO RGD:2901 D RGD:9068941 20220922 RGD PMID:32178736|REF_RGD_ID:155230830 12079702 IL6 interleukin 6 gene DOID:9001708 Hemorrhagic Shock ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 12079702 IL6 interleukin 6 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21168948|REF_RGD_ID:5128673 12079702 IL6 interleukin 6 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:2901 D RGD:9068941 20200609 RGD mRNA:increased expression:retina: PMID:16530172|REF_RGD_ID:7829807 12079702 IL6 interleukin 6 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16286589 12079702 IL6 interleukin 6 gene DOID:9002096 Foot Injuries ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:18988309|REF_RGD_ID:8662979 12079702 IL6 interleukin 6 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:20643849|REF_RGD_ID:4143255 12079702 IL6 interleukin 6 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:10802 D RGD:9068941 20220930 RGD PMID:32155285|REF_RGD_ID:155260323 12079702 IL6 interleukin 6 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:24752458|REF_RGD_ID:11062134 12079702 IL6 interleukin 6 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) PMID:18716362|REF_RGD_ID:2307282 12079702 IL6 interleukin 6 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:kidney (rat) PMID:19052104|REF_RGD_ID:2307281 12079702 IL6 interleukin 6 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type1;DNA:polymorphism:promoter:-174G>C(human) PMID:19542902|REF_RGD_ID:7829816 12079702 IL6 interleukin 6 gene DOID:9002211 Hyperalgesia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10401557|PMID:18652822|PMID:7582491 12079702 IL6 interleukin 6 gene DOID:9002211 Hyperalgesia ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Foot Injuries; protein:increased expression:serum: PMID:18988309|REF_RGD_ID:8662979 12079702 IL6 interleukin 6 gene DOID:9002211 Hyperalgesia ISO RGD:2901 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion PMID:23953943|REF_RGD_ID:10402830 12079702 IL6 interleukin 6 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18006695 12079702 IL6 interleukin 6 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:10870116|REF_RGD_ID:11522755 12079702 IL6 interleukin 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15672864|PMID:17196171|PMID:19011039|PMID:19240160|PMID:25970160 12079702 IL6 interleukin 6 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:26339812|REF_RGD_ID:11062109 12079702 IL6 interleukin 6 gene DOID:9002457 Experimental Arthritis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20131233|PMID:20974942|PMID:22450443 12079702 IL6 interleukin 6 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:10381487|REF_RGD_ID:11049553 12079702 IL6 interleukin 6 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:23503893|PMID:24028507|PMID:8607900|REF_RGD_ID:10755447|REF_RGD_ID:11049551|REF_RGD_ID:11060267 12079702 IL6 interleukin 6 gene DOID:9002633 Premature Obstetric Labor ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20610570|PMID:22122352 12079702 IL6 interleukin 6 gene DOID:9002676 Cerebral Hemorrhage ameliorates ISO RGD:2901 D RGD:9068941 20230504 RGD PMID:31376096|REF_RGD_ID:329337378 12079702 IL6 interleukin 6 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19401270 12079702 IL6 interleukin 6 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:23322593|REF_RGD_ID:12791289 12079702 IL6 interleukin 6 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:oligodendrocytes (rat) PMID:9358769|REF_RGD_ID:2307412 12079702 IL6 interleukin 6 gene DOID:9002765 Systemic Juvenile Rheumatoid Arthritis susceptibility ISO RGD:1352582 D RGD:7240710 20230517 OMIM 12079702 IL6 interleukin 6 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:16429448|REF_RGD_ID:7829818 12079702 IL6 interleukin 6 gene DOID:9002936 Bile Duct Neoplasms disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17617204|REF_RGD_ID:2317166 12079702 IL6 interleukin 6 gene DOID:9003104 Intracranial Hemorrhages susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter -174G>C(human) PMID:15331795|REF_RGD_ID:12792203 12079702 IL6 interleukin 6 gene DOID:9003281 Spontaneous Abortions ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12079702 IL6 interleukin 6 gene DOID:9003507 Premature Birth ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26055944 12079702 IL6 interleukin 6 gene DOID:9003676 Brain Hypoxia-Ischemia severity ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism: :174G>C(human) PMID:22117975|REF_RGD_ID:12792241 12079702 IL6 interleukin 6 gene DOID:9003688 Toxoplasma Chorioretinitis susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-174G>C(human) PMID:23336844|REF_RGD_ID:7829805 12079702 IL6 interleukin 6 gene DOID:9003730 Chemical Burns ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 12079702 IL6 interleukin 6 gene DOID:9003737 Ascorbic Acid Deficiency ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:9566989|REF_RGD_ID:1643102 12079702 IL6 interleukin 6 gene DOID:9003817 Sudden Hearing Loss ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:11189185|REF_RGD_ID:7394753 12079702 IL6 interleukin 6 gene DOID:9003817 Sudden Hearing Loss susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.C572G(human) PMID:22385075|REF_RGD_ID:8547982 12079702 IL6 interleukin 6 gene DOID:9003828 Klebsiella Infections treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:8432613|REF_RGD_ID:11062093 12079702 IL6 interleukin 6 gene DOID:9003936 Cardiomegaly ISO RGD:2901 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart PMID:15542404|REF_RGD_ID:1581939 12079702 IL6 interleukin 6 gene DOID:9004009 Reperfusion Injury ISO RGD:10802 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20659747|REF_RGD_ID:4143253 12079702 IL6 interleukin 6 gene DOID:9004009 Reperfusion Injury ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914|PMID:17032661|PMID:18258783|PMID:19673871|PMID:21940958 12079702 IL6 interleukin 6 gene DOID:9004009 Reperfusion Injury ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:20680426|REF_RGD_ID:4143250 12079702 IL6 interleukin 6 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:rs1800795 (human) PMID:27812403|REF_RGD_ID:14975294 12079702 IL6 interleukin 6 gene DOID:9004210 Tympanic Membrane Perforation ISO RGD:2901 D RGD:9068941 20200609 RGD mRNA:increased expression:tympanic membrane: PMID:24012216|REF_RGD_ID:8547981 12079702 IL6 interleukin 6 gene DOID:9004484 Sepsis ISO RGD:1352582 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:32062619 12079702 IL6 interleukin 6 gene DOID:9004484 Sepsis ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:27598601|REF_RGD_ID:14975121 12079702 IL6 interleukin 6 gene DOID:9004484 Sepsis ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; mRNA, protein:increased expression:liver, extracellular space (rat) PMID:19079684|REF_RGD_ID:2307280 12079702 IL6 interleukin 6 gene DOID:9004484 Sepsis treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:25317848|REF_RGD_ID:11062009 12079702 IL6 interleukin 6 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 12079702 IL6 interleukin 6 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1352582 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26101800|PMID:26284488 12079702 IL6 interleukin 6 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:27085796|REF_RGD_ID:11062151 12079702 IL6 interleukin 6 gene DOID:9004610 Acute Lung Injury ISO RGD:1352582 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:32062619 12079702 IL6 interleukin 6 gene DOID:9004610 Acute Lung Injury ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar lavage, blood, lung (rat) PMID:19995278|REF_RGD_ID:11062103 12079702 IL6 interleukin 6 gene DOID:9004649 Heat Stroke ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 12079702 IL6 interleukin 6 gene DOID:9004713 Acute-Phase Reaction ISO RGD:1352582 D RGD:9068941 20200609 RGD human protein in a rat model PMID:7678052|REF_RGD_ID:11060262 12079702 IL6 interleukin 6 gene DOID:9004912 Hyperoxaluria ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284884 12079702 IL6 interleukin 6 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9032749 12079702 IL6 interleukin 6 gene DOID:9004932 Eales Disease ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22025890|REF_RGD_ID:7829790 12079702 IL6 interleukin 6 gene DOID:9004932 Eales Disease susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-174G>C(human) PMID:22025890|REF_RGD_ID:7829790 12079702 IL6 interleukin 6 gene DOID:9004983 Fetal Inflammatory Response Syndrome ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Premature Birth; PMID:24832219|REF_RGD_ID:12801490 12079702 IL6 interleukin 6 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:10802 D RGD:9068941 20200820 RGD mRNA:increased expression:placenta: PMID:21923716|REF_RGD_ID:38501105 12079702 IL6 interleukin 6 gene DOID:9005172 Lung Neoplasms ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26372664 12079702 IL6 interleukin 6 gene DOID:9005372 Inflammation ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422|PMID:16227999|PMID:19762220|PMID:19803787|PMID:20056584|PMID:20578705|PMID:20816778|PMID:21467745|PMID:23159501|PMID:23371441|PMID:26297436 12079702 IL6 interleukin 6 gene DOID:9005372 Inflammation treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:25319517|REF_RGD_ID:11060261 12079702 IL6 interleukin 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:24582317|REF_RGD_ID:11049554 12079702 IL6 interleukin 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138235 12079702 IL6 interleukin 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:18976114|REF_RGD_ID:2306984 12079702 IL6 interleukin 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:extracellular space (rat) PMID:19328014|REF_RGD_ID:2307252 12079702 IL6 interleukin 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:20555424|REF_RGD_ID:4142788 12079702 IL6 interleukin 6 gene DOID:9005749 Necrosis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7608651 12079702 IL6 interleukin 6 gene DOID:9005882 Spine Osteoarthritis ISO RGD:1352582 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34697729 12079702 IL6 interleukin 6 gene DOID:9005930 Endotoxemia ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:21396682|REF_RGD_ID:5147765 12079702 IL6 interleukin 6 gene DOID:9005930 Endotoxemia ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; Protein:increased expression:extracellular space (rat) PMID:19449282|REF_RGD_ID:2307179 12079702 IL6 interleukin 6 gene DOID:9005930 Endotoxemia ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:22227956|REF_RGD_ID:6893482 12079702 IL6 interleukin 6 gene DOID:9006024 Hypotension ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15217654|PMID:15384034 12079702 IL6 interleukin 6 gene DOID:9006607 Hemifacial Spasm ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:30684712|REF_RGD_ID:14975126 12079702 IL6 interleukin 6 gene DOID:9006646 Metabolic Syndrome ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16644639 12079702 IL6 interleukin 6 gene DOID:9006741 Acute Hepatitis disease_progression ISO RGD:10802 D RGD:9068941 20210423 RGD protein:increased expression:blood serum (mouse) PMID:26569409|REF_RGD_ID:11344640 12079702 IL6 interleukin 6 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1352582 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 12079702 IL6 interleukin 6 gene DOID:9006827 Lung Reperfusion Injury ameliorates ISO RGD:10802 D RGD:9068941 20220915 RGD PMID:34238924|REF_RGD_ID:153350155 12079702 IL6 interleukin 6 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1352582 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:respiratory system fluid/secretion PMID:14738241|REF_RGD_ID:5128668 12079702 IL6 interleukin 6 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:11349084|REF_RGD_ID:7829813 12079702 IL6 interleukin 6 gene DOID:9007096 Stroke ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18319729 12079702 IL6 interleukin 6 gene DOID:9007096 Stroke ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:14512079|REF_RGD_ID:1580486 12079702 IL6 interleukin 6 gene DOID:9007102 Myocardial Ischemia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16286589 12079702 IL6 interleukin 6 gene DOID:9007271 Hypoalbuminemia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15044820 12079702 IL6 interleukin 6 gene DOID:9007346 Cachexia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17878525 12079702 IL6 interleukin 6 gene DOID:9007346 Cachexia ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Leukemia, T-Cell;protein:increased activity:plasma (rat) PMID:9110147|REF_RGD_ID:11062106 12079702 IL6 interleukin 6 gene DOID:9007355 Hashimoto Disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 12079702 IL6 interleukin 6 gene DOID:9007355 Hashimoto Disease ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-572C>G(human) PMID:21235536|REF_RGD_ID:7829719 12079702 IL6 interleukin 6 gene DOID:9007367 Septic Peritonitis ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:19897171|REF_RGD_ID:11062137 12079702 IL6 interleukin 6 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15763341|PMID:7532385 12079702 IL6 interleukin 6 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 12079702 IL6 interleukin 6 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 12079702 IL6 interleukin 6 gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:10802 D RGD:9068941 20200702 RGD PMID:27175332|REF_RGD_ID:32733623 12079702 IL6 interleukin 6 gene DOID:9007480 Hyperoxia ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:20663297|REF_RGD_ID:4143252 12079702 IL6 interleukin 6 gene DOID:9007588 Heart Injuries ameliorates ISO RGD:10802 D RGD:9068941 20230330 RGD associated with obesity PMID:32084395|REF_RGD_ID:242905211 12079702 IL6 interleukin 6 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1352582 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:23593346|PMID:26101800 12079702 IL6 interleukin 6 gene DOID:9007692 Insulin Resistance ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat) PMID:19328014|REF_RGD_ID:2307252 12079702 IL6 interleukin 6 gene DOID:9007692 Insulin Resistance ISO RGD:2901 D RGD:9068941 20200609 RGD mRNA:increased expression:islet of Langerhans PMID:21826222|REF_RGD_ID:10402828 12079702 IL6 interleukin 6 gene DOID:9007730 Burns ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10431976|PMID:18277951 12079702 IL6 interleukin 6 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:11959089|REF_RGD_ID:11062110 12079702 IL6 interleukin 6 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2901 D RGD:9068941 20220929 RGD PMID:27087891|PMID:31583047|REF_RGD_ID:11062149|REF_RGD_ID:155230831 12079702 IL6 interleukin 6 gene DOID:9007925 Sudden Cardiac Death susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:23906927|REF_RGD_ID:12792237 12079702 IL6 interleukin 6 gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:10802 D RGD:9068941 20200828 RGD mRNA:altered expression:gastric antrum (mouse) PMID:29085807|REF_RGD_ID:38549349 12079702 IL6 interleukin 6 gene DOID:9008414 Pulmonary Contusion ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar lavage fluid (rat) PMID:16044083|REF_RGD_ID:11060268 12079702 IL6 interleukin 6 gene DOID:9008523 Subretinal Fibrosis ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:24790857|REF_RGD_ID:10402815 12079702 IL6 interleukin 6 gene DOID:9008614 Cardiovascular Pregnancy Complications ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10716473 12079702 IL6 interleukin 6 gene DOID:9008652 Postoperative Atrial Fibrillation disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:18946567|REF_RGD_ID:9495910 12079702 IL6 interleukin 6 gene DOID:9008691 Liver Injury ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:16549690|REF_RGD_ID:11060263 12079702 IL6 interleukin 6 gene DOID:9008691 Liver Injury treatment ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Myocardial Reperfusion Injury PMID:27109160|REF_RGD_ID:11062142 12079702 IL6 interleukin 6 gene DOID:9008763 Femoral Fractures ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21442011|REF_RGD_ID:5131471 12079702 IL6 interleukin 6 gene DOID:9008824 Sarcopenia ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:12919235|REF_RGD_ID:10045859 12079702 IL6 interleukin 6 gene DOID:9008865 Entamoebiasis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16374615 12079702 IL6 interleukin 6 gene DOID:9008939 Breast Neoplasms ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037|PMID:17516992|PMID:19435922|PMID:19446661 12079702 IL6 interleukin 6 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with obesity;DNA:polymorphism:promoter:-174G>C(human) PMID:11426023|REF_RGD_ID:7829718 12079702 IL6 interleukin 6 gene DOID:9008967 Brain Concussion treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:27113205|REF_RGD_ID:11062140 12079702 IL6 interleukin 6 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18500730 12079702 IL6 interleukin 6 gene DOID:9065 leishmaniasis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16540374 12079702 IL6 interleukin 6 gene DOID:9074 systemic lupus erythematosus ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18158872 12079702 IL6 interleukin 6 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:23357299|REF_RGD_ID:11046264 12079702 IL6 interleukin 6 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD human protein in a rat model PMID:8892684|REF_RGD_ID:11062010 12079702 IL6 interleukin 6 gene DOID:9146 visceral leishmaniasis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17404324|PMID:22461696|PMID:7554475 12079702 IL6 interleukin 6 gene DOID:9256 colorectal cancer ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-174G>C (human) PMID:28349833|REF_RGD_ID:14975287 12079702 IL6 interleukin 6 gene DOID:9351 diabetes mellitus ISO RGD:10802 D RGD:9068941 20200609 RGD mRNA:decreased expression:dendritic cell (mouse) PMID:19120268|REF_RGD_ID:2307278 12079702 IL6 interleukin 6 gene DOID:9351 diabetes mellitus ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Dementia; protein:increased expression:brain (human) PMID:19139294|REF_RGD_ID:2307273 12079702 IL6 interleukin 6 gene DOID:9351 diabetes mellitus ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:extracellular space (human) PMID:19442860|REF_RGD_ID:2307180 12079702 IL6 interleukin 6 gene DOID:9351 diabetes mellitus susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-174G>C (human) PMID:18689695|REF_RGD_ID:2307293 12079702 IL6 interleukin 6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO PMID:10720087|PMID:11001912|PMID:11889177|PMID:12519862|PMID:12560873|PMID:12719374|PMID:15070960|PMID:15331795|PMID:15472205|PMID:16150725|PMID:16278864|PMID:17623760|PMID:9769329 12079702 IL6 interleukin 6 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1352582 D RGD:7240710 20230517 OMIM 12079702 IL6 interleukin 6 gene DOID:9402 epididymitis ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:29311626|REF_RGD_ID:13792835 12079702 IL6 interleukin 6 gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:2901 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 12079702 IL6 interleukin 6 gene DOID:9452 fatty liver disease ISO RGD:10802 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; protein:increased expression:extracellular space (mouse) PMID:19205029|REF_RGD_ID:2307258 12079702 IL6 interleukin 6 gene DOID:9452 fatty liver disease ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:liver, extracellular space (rat) PMID:19076162|REF_RGD_ID:2307264 12079702 IL6 interleukin 6 gene DOID:9538 multiple myeloma ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12855565|PMID:19330649|PMID:8520508 12079702 IL6 interleukin 6 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352582 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 12079702 IL6 interleukin 6 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:vitreous: PMID:1800167|REF_RGD_ID:7829748 12079702 IL6 interleukin 6 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1352582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, type 1, susceptibility to PMID:10720087|PMID:11001912|PMID:11889177|PMID:12519862|PMID:12560873|PMID:12719374|PMID:15070960|PMID:15331795|PMID:15472205|PMID:16150725|PMID:16278864|PMID:17623760|PMID:9769329 12079702 IL6 interleukin 6 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1352582 D RGD:7240710 20230517 OMIM 12079702 IL6 interleukin 6 gene DOID:9970 obesity ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20141834|PMID:24042701 12079702 IL6 interleukin 6 gene DOID:9970 obesity ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism>promoter:174G>C PMID:16493118|REF_RGD_ID:1601582 12079702 IL6 interleukin 6 gene DOID:9970 obesity ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) PMID:19228869|REF_RGD_ID:2307257 12079702 IL6 interleukin 6 gene DOID:9970 obesity ISO RGD:2901 D RGD:9068941 20200609 RGD mRNA:increased expression:islet of Langerhans PMID:21826222|REF_RGD_ID:10402828 12079711 AREG amphiregulin gene DOID:0060074 ductal carcinoma in situ ISO RGD:1345760 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:8543395|REF_RGD_ID:2292664 12079711 AREG amphiregulin gene DOID:0080600 COVID-19 ISO RGD:1345760 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12079711 AREG amphiregulin gene DOID:11054 urinary bladder cancer ISO RGD:736382 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:11133810|REF_RGD_ID:2292662 12079711 AREG amphiregulin gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1345760 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:11507076|REF_RGD_ID:2292661 12079711 AREG amphiregulin gene DOID:13270 erythropoietic protoporphyria ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19267999 12079711 AREG amphiregulin gene DOID:1612 breast cancer ISO RGD:1345760 D RGD:9068941 20200609 RGD PMID:16438846|REF_RGD_ID:2292658 12079711 AREG amphiregulin gene DOID:1749 squamous cell carcinoma ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11237771 12079711 AREG amphiregulin gene DOID:2671 transitional cell carcinoma ISO RGD:1345760 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:16469638|REF_RGD_ID:2289980 12079711 AREG amphiregulin gene DOID:2841 asthma ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15696081 12079711 AREG amphiregulin gene DOID:289 endometriosis ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12079711 AREG amphiregulin gene DOID:3008 invasive ductal carcinoma ISO RGD:1345760 D RGD:9068941 20200609 RGD PMID:11523048|REF_RGD_ID:2292660 12079711 AREG amphiregulin gene DOID:3070 high grade glioma ISO RGD:2149 D RGD:9068941 20200609 RGD PMID:8621257|REF_RGD_ID:2292668 12079711 AREG amphiregulin gene DOID:3770 pulmonary fibrosis ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26817844 12079711 AREG amphiregulin gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496427|PMID:16230376 12079711 AREG amphiregulin gene DOID:630 genetic disease ISO RGD:1345760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079711 AREG amphiregulin gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12079711 AREG amphiregulin gene DOID:8634 prostate carcinoma in situ ISO RGD:1345760 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:14716741|REF_RGD_ID:2292659 12079711 AREG amphiregulin gene DOID:9000217 Stomach Neoplasms ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15723263|PMID:15940630|PMID:16367923 12079711 AREG amphiregulin gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:2149 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:18421211|REF_RGD_ID:2292665 12079711 AREG amphiregulin gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1345760 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12079711 AREG amphiregulin gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345760 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:14716741|REF_RGD_ID:2292659 12079711 AREG amphiregulin gene DOID:9002762 Ovarian Neoplasms ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15313392 12079711 AREG amphiregulin gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1345760 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:endometrium PMID:16962163|REF_RGD_ID:2289950 12079711 AREG amphiregulin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2149 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:18421211|REF_RGD_ID:2292665 12079711 AREG amphiregulin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736382 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland PMID:10225449|REF_RGD_ID:2292663 12079711 AREG amphiregulin gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342401 12079711 AREG amphiregulin gene DOID:9007102 Myocardial Ischemia ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12079711 AREG amphiregulin gene DOID:9008939 Breast Neoplasms ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11237771 12079726 ERI3 ERI1 exoribonuclease family member 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12079726 ERI3 ERI1 exoribonuclease family member 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1318310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12079726 ERI3 ERI1 exoribonuclease family member 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12079726 ERI3 ERI1 exoribonuclease family member 3 gene DOID:630 genetic disease ISO RGD:1318310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079754 NUB1 negative regulator of ubiquitin like proteins 1 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1602112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 12079754 NUB1 negative regulator of ubiquitin like proteins 1 gene DOID:2843 long QT syndrome ISO RGD:1602112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 12079754 NUB1 negative regulator of ubiquitin like proteins 1 gene DOID:630 genetic disease ISO RGD:1602112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079772 PHF7 PHD finger protein 7 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1318527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12079772 PHF7 PHD finger protein 7 gene DOID:10003 sensorineural hearing loss ISO RGD:1318527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 12079772 PHF7 PHD finger protein 7 gene DOID:630 genetic disease ISO RGD:1318527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079787 INTS6 integrator complex subunit 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1319842 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12079787 INTS6 integrator complex subunit 6 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1319842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12079787 INTS6 integrator complex subunit 6 gene DOID:1059 intellectual disability ISO RGD:1319842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12079787 INTS6 integrator complex subunit 6 gene DOID:630 genetic disease ISO RGD:1319842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079787 INTS6 integrator complex subunit 6 gene DOID:893 Wilson disease ISO RGD:1319842 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:28492532 12079811 CLEC12A C-type lectin domain family 12 member A gene DOID:0080600 COVID-19 ISO RGD:1605851 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12079811 CLEC12A C-type lectin domain family 12 member A gene DOID:12155 lymphocytic choriomeningitis disease_progression ISO RGD:1615680 D RGD:9068941 20210226 RGD PMID:31451663|REF_RGD_ID:41412202 12079811 CLEC12A C-type lectin domain family 12 member A gene DOID:14069 cerebral malaria ameliorates ISO RGD:1615680 D RGD:9068941 20210226 RGD PMID:31269448|REF_RGD_ID:41412201 12079811 CLEC12A C-type lectin domain family 12 member A gene DOID:630 genetic disease ISO RGD:1605851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079811 CLEC12A C-type lectin domain family 12 member A gene DOID:7148 rheumatoid arthritis ISO RGD:1605851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 12079821 HLCS holocarboxylase synthetase gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1320489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12079821 HLCS holocarboxylase synthetase gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1320489 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12079821 HLCS holocarboxylase synthetase gene DOID:1826 epilepsy ISO RGD:1320489 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12079821 HLCS holocarboxylase synthetase gene DOID:630 genetic disease ISO RGD:1320489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16134170|PMID:24033266|PMID:24215330|PMID:25741868|PMID:27604308|PMID:28492532 12079821 HLCS holocarboxylase synthetase gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1320489 D RGD:7240710 20180130 OMIM 12079821 HLCS holocarboxylase synthetase gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1320489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:10068510|PMID:10190325|PMID:10590022|PMID:10653324|PMID:11124959|PMID:11185745|PMID:11735028|PMID:12124727|PMID:12633764|PMID:15635070|PMID:16134170|PMID:16199547|PMID:16231399|PMID:17274881|PMID:17407983|PMID:17576681|PMID:18429047|PMID:18442489|PMID:18974016|PMID:19157941|PMID:19695181|PMID:19806568|PMID:20026029|PMID:20095979|PMID:21874615|PMID:21894551|PMID:22027809|PMID:24033266|PMID:24085707|PMID:24099927|PMID:24215330|PMID:24239178|PMID:25087612|PMID:25525159|PMID:25690727|PMID:25741868|PMID:26938784|PMID:27114915|PMID:27604308|PMID:28492532|PMID:29701239|PMID:32219826|PMID:32358368|PMID:32727382|PMID:33123633|PMID:6133032|PMID:7842009|PMID:8319716|PMID:8541348|PMID:8817339|PMID:9396568|PMID:9536098|PMID:9630604|PMID:9870216 12079821 HLCS holocarboxylase synthetase gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1320489 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:25741868|PMID:28492532 12079853 LNP1 leukemia NUP98 fusion partner 1 gene DOID:630 genetic disease ISO RGD:2291790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079853 LNP1 leukemia NUP98 fusion partner 1 gene DOID:9009221 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM ISO RGD:2291790 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 12079867 DET1 DET1 partner of COP1 E3 ubiquitin ligase gene DOID:2717 Bloom syndrome ISO RGD:1348990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12079867 DET1 DET1 partner of COP1 E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1348990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079867 DET1 DET1 partner of COP1 E3 ubiquitin ligase gene DOID:9256 colorectal cancer ISO RGD:1348990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12079893 LOC479649 chymostrypsinogen B1-like gene DOID:2565 macular corneal dystrophy ISO RGD:1347928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 12079893 LOC479649 chymostrypsinogen B1-like gene DOID:4989 pancreatitis ISO RGD:2444 D RGD:9068941 20210521 RGD mRNA, protein:decreased expression:pancreas PMID:1716058|REF_RGD_ID:2303363 12079893 LOC479649 chymostrypsinogen B1-like gene DOID:607 paraplegia ISO RGD:1347928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12079893 LOC479649 chymostrypsinogen B1-like gene DOID:630 genetic disease ISO RGD:1347928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12079909 SPATA7 spermatogenesis associated 7 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:1345087 D RGD:7240710 20180130 OMIM 12079909 SPATA7 spermatogenesis associated 7 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:1345087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 | ClinVar Annotator: match by term: Retinitis pigmentosa 94, variable age at onset PMID:16199547|PMID:17576681|PMID:19268277|PMID:20104588|PMID:20301475|PMID:21310915|PMID:21602930|PMID:22136677|PMID:22334370|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24938718|PMID:25133751|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26854980|PMID:27208204|PMID:28481129|PMID:28492532|PMID:28714225|PMID:29186038|PMID:29411205|PMID:30054919|PMID:31908400|PMID:32865313|PMID:9536098 12079909 SPATA7 spermatogenesis associated 7 gene DOID:10584 retinitis pigmentosa ISO RGD:1345087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:25741868|PMID:26355662|PMID:28481129|PMID:28492532|PMID:9536098 12079909 SPATA7 spermatogenesis associated 7 gene DOID:10584 retinitis pigmentosa ISO RGD:1345087 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:25741868|PMID:26261414|PMID:26306921|PMID:26355662|PMID:28481129|PMID:28492532|PMID:30054919|PMID:31908400 12079909 SPATA7 spermatogenesis associated 7 gene DOID:10584 retinitis pigmentosa ISO RGD:1345087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:19268277|PMID:22334370|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26261414|PMID:26306921|PMID:26355662|PMID:28481129|PMID:28492532|PMID:30054919|PMID:31908400|PMID:9536098 12079909 SPATA7 spermatogenesis associated 7 gene DOID:14791 Leber congenital amaurosis ISO RGD:1345087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:19268277|PMID:20104588|PMID:21310915|PMID:22334370|PMID:23847139|PMID:24265693|PMID:25741868|PMID:26047050|PMID:26261414|PMID:26854980|PMID:28492532|PMID:31908400 12079909 SPATA7 spermatogenesis associated 7 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1345087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12079909 SPATA7 spermatogenesis associated 7 gene DOID:630 genetic disease ISO RGD:1345087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12079909 SPATA7 spermatogenesis associated 7 gene DOID:8501 fundus dystrophy ISO RGD:1345087 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:19268277|PMID:21310915|PMID:22136677|PMID:22334370|PMID:23847139|PMID:25133751|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26261414|PMID:27208204|PMID:28492532|PMID:29411205 12079930 OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:737583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:28492532 12079930 OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:12930 dilated cardiomyopathy ISO RGD:737583 D RGD:9068941 20200609 RGD PMID:15345656|REF_RGD_ID:1580779 12079930 OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:1540 parathyroid carcinoma ISO RGD:737583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12079930 OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:630 genetic disease ISO RGD:737583 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356970|PMID:28492532 12079930 OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:9000161 Autosomal Recessive Nonsyndromic Deafness 120 ISO RGD:737583 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 120 12079930 OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:9000884 Rhabdomyolysis ISO RGD:737583 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis, susceptibility to, 1 PMID:16199547|PMID:28492532|PMID:34957489 12079930 OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:9000884 Rhabdomyolysis susceptibility ISO RGD:737583 D RGD:7240710 20230215 OMIM 12079930 OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:9007661 Dwarfism ISO RGD:737583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12079930 OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12080052 LRRN3 leucine rich repeat neuronal 3 gene DOID:0060041 autism spectrum disorder ISO RGD:734364 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20678249 12080052 LRRN3 leucine rich repeat neuronal 3 gene DOID:0111275 speech-language disorder-1 ISO RGD:734364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood apraxia of speech PMID:25422445 12080052 LRRN3 leucine rich repeat neuronal 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12080052 LRRN3 leucine rich repeat neuronal 3 gene DOID:5419 schizophrenia ISO RGD:734364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12080052 LRRN3 leucine rich repeat neuronal 3 gene DOID:630 genetic disease ISO RGD:734364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080060 SLC22A15 solute carrier family 22 member 15 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1322509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 12080060 SLC22A15 solute carrier family 22 member 15 gene DOID:630 genetic disease ISO RGD:1322509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080060 SLC22A15 solute carrier family 22 member 15 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1322509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 12080075 OR1I1 olfactory receptor family 1 subfamily I member 1 gene DOID:630 genetic disease ISO RGD:1350140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080078 ZNRF4 zinc and ring finger 4 gene DOID:630 genetic disease ISO RGD:1345671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:0060074 ductal carcinoma in situ severity ISO RGD:1350530 D RGD:9068941 20200609 RGD protein:increased activity:breast PMID:17060931|REF_RGD_ID:2315078 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:0060180 colitis ISO RGD:1350530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17551092 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:0080199 colorectal carcinoma severity ISO RGD:1350530 D RGD:9068941 20211112 RGD PMID:11443610|REF_RGD_ID:150521545 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:0080855 Parkinsonism ISO RGD:620795 D RGD:9068941 20200609 RGD PMID:16529858|REF_RGD_ID:1581410 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1350530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18385429 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:10003 sensorineural hearing loss treatment ISO RGD:8870238 D RGD:9068941 20200609 RGD PMID:24472721|REF_RGD_ID:11554193 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:10283 prostate cancer disease_progression ISO RGD:1350530 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:prostate gland, membrane PMID:19447874|REF_RGD_ID:2315077 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:10534 stomach cancer treatment ISO RGD:1350530 D RGD:9068941 20210611 RGD human cells in mouse model PMID:29408335|REF_RGD_ID:127284846 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:10763 hypertension ISO RGD:620795 D RGD:9068941 20200609 RGD PMID:16157790|REF_RGD_ID:1601372 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:11054 urinary bladder cancer ISO RGD:1350530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11723127|PMID:17093206 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:14566 disease of cellular proliferation ISO RGD:1350530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:25157968|PMID:9988270 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:1520 colon carcinoma ISO RGD:1350530 D RGD:9068941 20211112 RGD protein:increased phosphorylating activity:colon mucosa PMID:2436227|REF_RGD_ID:150521541 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:1824 status epilepticus ISO RGD:1350530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16600505 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:1824 status epilepticus ISO RGD:620795 D RGD:9068941 20200609 RGD PMID:16600505|REF_RGD_ID:1581409 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:1928 Williams-Beuren syndrome ISO RGD:733401 D RGD:9068941 20220825 MouseDO OMIM:194050 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:219 colon cancer ISO RGD:1350530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer, advanced PMID:25157968|PMID:9988270 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:219 colon cancer disease_progression ISO RGD:1350530 D RGD:9068941 20200609 RGD DNA:nonsense mutation PMID:9988270|REF_RGD_ID:1601371 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:219 colon cancer disease_progression ISO RGD:1350530 D RGD:9068941 20211112 RGD PMID:7678609|REF_RGD_ID:150521542 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:2234 focal epilepsy ISO RGD:1350530 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:2316 brain ischemia ISO RGD:620795 D RGD:9068941 20200609 RGD PMID:15854740|REF_RGD_ID:1581411 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:1350530 D RGD:9068941 20211112 RGD PMID:21282564|REF_RGD_ID:150520218 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:3907 lung squamous cell carcinoma severity ISO RGD:1350530 D RGD:9068941 20211112 RGD PMID:12826049|REF_RGD_ID:150521546 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:3910 lung adenocarcinoma severity ISO RGD:1350530 D RGD:9068941 20211112 RGD PMID:12826049|REF_RGD_ID:150521546 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:4971 myelofibrosis ISO RGD:1350530 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis PMID:25741868|PMID:26936507|PMID:32581362 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:5742 pancreatic acinar cell adenocarcinoma disease_progression ISO RGD:620795 D RGD:9068941 20211126 RGD PMID:8569183|REF_RGD_ID:150523792 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1350530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1350530 D RGD:9068941 20211112 RGD PMID:9581679|REF_RGD_ID:150521543 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:620795 D RGD:9068941 20211112 RGD PMID:9581679|REF_RGD_ID:150521543 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9000081 Lymphatic Metastasis ISO RGD:1350530 D RGD:9068941 20211112 RGD associated with colon adenocarcinoma, PMID:21282564|REF_RGD_ID:150520218 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350530 D RGD:9068941 20211112 RGD associated with colorectal carcinoma;protein:increased activity:colorectum: PMID:7687314|REF_RGD_ID:150521537 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:733401 D RGD:9068941 20200609 RGD PMID:15486073|REF_RGD_ID:1581401 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9002910 Hearing Loss, Noise-Induced treatment ISO RGD:8870238 D RGD:9068941 20200609 RGD PMID:21840347|REF_RGD_ID:11554196 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9002928 Colonic Neoplasms ISO RGD:1350530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14569062 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9003936 Cardiomegaly ISO RGD:1350530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18194989 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9004009 Reperfusion Injury ISO RGD:620795 D RGD:9068941 20200609 RGD protein:increased phosphorylation:hippocampus CA1 (rat) PMID:20197063|REF_RGD_ID:2325012 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1350530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18844224|PMID:21291860 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9004763 Trauma and Stressor Related Disorders disease_progression ISO RGD:620795 D RGD:9068941 20220428 RGD PMID:22078298|REF_RGD_ID:152023731 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9005009 Thrombocytopenia 6 ISO RGD:1350530 D RGD:7240710 20190315 OMIM 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9005009 Thrombocytopenia 6 ISO RGD:1350530 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 6 PMID:25741868|PMID:26936507|PMID:32581362 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9005968 Neuralgia treatment ISO RGD:620795 D RGD:9068941 20211119 RGD PMID:33746000|REF_RGD_ID:150521727 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:620795 D RGD:9068941 20200609 RGD PMID:12819032|REF_RGD_ID:1580850 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9006618 Liver Metastasis disease_progression ISO RGD:1350530 D RGD:9068941 20211112 RGD associated with colon cancer;protein:increased activity:colon PMID:7678609|REF_RGD_ID:150521542 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9007096 Stroke ISO RGD:620795 D RGD:9068941 20200609 RGD PMID:19741150|REF_RGD_ID:2315083 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1350530 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350530 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:1350530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21357651 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1350530 D RGD:9068941 20200609 RGD protein:altered localization:cytoplasm PMID:19830888|REF_RGD_ID:2315076 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9009121 lung metastasis ameliorates ISO RGD:1350530 D RGD:9068941 20211119 RGD associated with nasopharynx carcinoma; PMID:27078847|REF_RGD_ID:150521726 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9009121 lung metastasis treatment ISO RGD:1350530 D RGD:9068941 20211112 RGD associated with breast cancer; PMID:15753384|REF_RGD_ID:1581400 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9256 colorectal cancer ISO RGD:1350530 D RGD:7240710 20200226 OMIM 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:1350530 D RGD:9068941 20211119 RGD PMID:27078847|REF_RGD_ID:150521726 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350530 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:platelets PMID:15542065|REF_RGD_ID:1601373 12080083 SRC SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:620795 D RGD:9068941 20200609 RGD PMID:19230846|REF_RGD_ID:2307340 12080115 LOC487172 protocadherin beta-5 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1314555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12080115 LOC487172 protocadherin beta-5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314555 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12080115 LOC487172 protocadherin beta-5 gene DOID:630 genetic disease ISO RGD:1314555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080115 LOC487172 protocadherin beta-5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12080115 LOC487172 protocadherin beta-5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314555 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12080121 RBM27 RNA binding motif protein 27 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323694 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12080121 RBM27 RNA binding motif protein 27 gene DOID:630 genetic disease ISO RGD:1323694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080121 RBM27 RNA binding motif protein 27 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12080121 RBM27 RNA binding motif protein 27 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323694 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12080152 SCAMP2 secretory carrier membrane protein 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:68490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12080152 SCAMP2 secretory carrier membrane protein 2 gene DOID:2717 Bloom syndrome ISO RGD:68490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12080152 SCAMP2 secretory carrier membrane protein 2 gene DOID:5419 schizophrenia ISO RGD:68490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12080152 SCAMP2 secretory carrier membrane protein 2 gene DOID:630 genetic disease ISO RGD:68490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080152 SCAMP2 secretory carrier membrane protein 2 gene DOID:9256 colorectal cancer ISO RGD:68490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12080174 WDFY3 WD repeat and FYVE domain containing 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1316086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930 12080174 WDFY3 WD repeat and FYVE domain containing 3 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1316086 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 PMID:25741868 12080174 WDFY3 WD repeat and FYVE domain containing 3 gene DOID:0070295 primary autosomal dominant microcephaly 18 ISO RGD:1316086 D RGD:7240710 20190315 OMIM 12080174 WDFY3 WD repeat and FYVE domain containing 3 gene DOID:0070295 primary autosomal dominant microcephaly 18 ISO RGD:1316086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 18, primary, autosomal dominant PMID:25741868|PMID:27008544|PMID:31327001 12080174 WDFY3 WD repeat and FYVE domain containing 3 gene DOID:10283 prostate cancer ISO RGD:1316086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12080174 WDFY3 WD repeat and FYVE domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1316086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12080174 WDFY3 WD repeat and FYVE domain containing 3 gene DOID:10907 microcephaly ISO RGD:1316086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12080174 WDFY3 WD repeat and FYVE domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1316086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 12080174 WDFY3 WD repeat and FYVE domain containing 3 gene DOID:630 genetic disease ISO RGD:1316086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32641753 12080174 WDFY3 WD repeat and FYVE domain containing 3 gene DOID:9003816 Macrocephaly ISO RGD:1316086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868|PMID:31327001 12080174 WDFY3 WD repeat and FYVE domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316086 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:27008544|PMID:31327001 12080174 WDFY3 WD repeat and FYVE domain containing 3 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1316086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 12080254 SEPTIN2 septin 2 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1342947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12080254 SEPTIN2 septin 2 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1342947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12080254 SEPTIN2 septin 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1342947 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12080254 SEPTIN2 septin 2 gene DOID:1059 intellectual disability ISO RGD:1342947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12080254 SEPTIN2 septin 2 gene DOID:14749 methylmalonic acidemia ISO RGD:1342947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 12080254 SEPTIN2 septin 2 gene DOID:630 genetic disease ISO RGD:1342947 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080254 SEPTIN2 septin 2 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1342947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12080277 ACOX3 acyl-CoA oxidase 3, pristanoyl gene DOID:630 genetic disease ISO RGD:736892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080277 ACOX3 acyl-CoA oxidase 3, pristanoyl gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12080311 TTC34 tetratricopeptide repeat domain 34 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:2293894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12080311 TTC34 tetratricopeptide repeat domain 34 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:2293894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12080311 TTC34 tetratricopeptide repeat domain 34 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:2293894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12080311 TTC34 tetratricopeptide repeat domain 34 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:2293894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12080311 TTC34 tetratricopeptide repeat domain 34 gene DOID:0110994 Joubert syndrome 25 ISO RGD:2293894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12080311 TTC34 tetratricopeptide repeat domain 34 gene DOID:0111934 immunodeficiency 38 ISO RGD:2293894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12080311 TTC34 tetratricopeptide repeat domain 34 gene DOID:0111935 immunodeficiency 16 ISO RGD:2293894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12080311 TTC34 tetratricopeptide repeat domain 34 gene DOID:630 genetic disease ISO RGD:2293894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080311 TTC34 tetratricopeptide repeat domain 34 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2293894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12080311 TTC34 tetratricopeptide repeat domain 34 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:2293894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12080311 TTC34 tetratricopeptide repeat domain 34 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:2293894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12080330 OCM oncomodulin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1625849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12080330 OCM oncomodulin gene DOID:630 genetic disease ISO RGD:1625849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080338 GFI1 growth factor independent 1 transcriptional repressor gene DOID:0050590 severe congenital neutropenia ISO RGD:10634 D RGD:9068941 20220825 MouseDO OMIM:202700 | OMIM:300299 | OMIM:610738 | OMIM:612541 | OMIM:613107 | OMIM:615285 | OMIM:616022 12080338 GFI1 growth factor independent 1 transcriptional repressor gene DOID:0050748 marginal zone lymphoma disease_progression ISO RGD:10634 D RGD:9068941 20200609 RGD PMID:15231650|REF_RGD_ID:1581305 12080338 GFI1 growth factor independent 1 transcriptional repressor gene DOID:0050908 myelodysplastic syndrome ISO RGD:733642 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone marrow: PMID:18371060|REF_RGD_ID:11040459 12080338 GFI1 growth factor independent 1 transcriptional repressor gene DOID:0070004 myeloid neoplasm ISO RGD:10634 D RGD:9068941 20200609 RGD PMID:22932805|REF_RGD_ID:11040453 12080338 GFI1 growth factor independent 1 transcriptional repressor gene DOID:0112131 severe congenital neutropenia 2 ISO RGD:733642 D RGD:7240710 20180130 OMIM 12080338 GFI1 growth factor independent 1 transcriptional repressor gene DOID:0112131 severe congenital neutropenia 2 ISO RGD:733642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant PMID:11807637|PMID:12778173|PMID:17576681|PMID:20560965|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 12080338 GFI1 growth factor independent 1 transcriptional repressor gene DOID:1227 neutropenia ISO RGD:10634 D RGD:9068941 20200609 RGD PMID:11810106|REF_RGD_ID:11040449 12080338 GFI1 growth factor independent 1 transcriptional repressor gene DOID:1227 neutropenia ISO RGD:10634 D RGD:9068941 20200609 RGD DNA:mutation:exon: PMID:22684987|REF_RGD_ID:11040456 12080338 GFI1 growth factor independent 1 transcriptional repressor gene DOID:1240 leukemia ISO RGD:733642 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow mononuclear cell: PMID:20723283|REF_RGD_ID:11040452 12080338 GFI1 growth factor independent 1 transcriptional repressor gene DOID:630 genetic disease ISO RGD:733642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12080338 GFI1 growth factor independent 1 transcriptional repressor gene DOID:8692 myeloid leukemia ISO RGD:10634 D RGD:9068941 20200609 RGD PMID:21732494|REF_RGD_ID:11040451 12080338 GFI1 growth factor independent 1 transcriptional repressor gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:733642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16122429 12080338 GFI1 growth factor independent 1 transcriptional repressor gene DOID:9002867 Myeloid Leukemia, Chronic-Phase ISO RGD:733642 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:mononuclea cell, CD34+ cell PMID:19887785|REF_RGD_ID:11040457 12080338 GFI1 growth factor independent 1 transcriptional repressor gene DOID:9002867 Myeloid Leukemia, Chronic-Phase disease_progression ISO RGD:733642 D RGD:9068941 20200609 RGD PMID:23411466|REF_RGD_ID:11040461 12080338 GFI1 growth factor independent 1 transcriptional repressor gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:733642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 12080338 GFI1 growth factor independent 1 transcriptional repressor gene DOID:9006946 Nonimmune Chronic Idiopathic Neutropenia, Adult ISO RGD:733642 D RGD:7240710 20180130 OMIM 12080338 GFI1 growth factor independent 1 transcriptional repressor gene DOID:9006946 Nonimmune Chronic Idiopathic Neutropenia, Adult ISO RGD:733642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonimmune chronic idiopathic neutropenia of adults PMID:11807637|PMID:12778173|PMID:25741868|PMID:28492532 12080338 GFI1 growth factor independent 1 transcriptional repressor gene DOID:9119 acute myeloid leukemia ISO RGD:733642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12080338 GFI1 growth factor independent 1 transcriptional repressor gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:733642 D RGD:9068941 20200609 RGD DNA:SNP:cds:c.107G>A(rs34631763)(human) PMID:20075157|REF_RGD_ID:11040450 12080349 NRL neural retina leucine zipper gene DOID:0060439 lysinuric protein intolerance ISO RGD:1313083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12080349 NRL neural retina leucine zipper gene DOID:0090059 enhanced S-cone syndrome ISO RGD:1313083 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Enhanced S-cone syndrome PMID:11694879|PMID:15591106|PMID:25741868|PMID:27732723|PMID:28492532|PMID:31456290 12080349 NRL neural retina leucine zipper gene DOID:0110397 retinitis pigmentosa 27 ISO RGD:1313083 D RGD:7240710 20180130 OMIM 12080349 NRL neural retina leucine zipper gene DOID:0110397 retinitis pigmentosa 27 ISO RGD:1313083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 27 PMID:10192380|PMID:11039579|PMID:11385710|PMID:11694879|PMID:11879142|PMID:12796249|PMID:15591106|PMID:17335001|PMID:17374726|PMID:21981118|PMID:22334370|PMID:25412400|PMID:25741868|PMID:27732723|PMID:28492532|PMID:29385733|PMID:31456290 12080349 NRL neural retina leucine zipper gene DOID:10584 retinitis pigmentosa ISO RGD:1313083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15591106|PMID:17335001|PMID:23534816|PMID:25741868|PMID:27081294|PMID:27624628|PMID:28492532|PMID:29385733 12080349 NRL neural retina leucine zipper gene DOID:630 genetic disease ISO RGD:1313083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12080349 NRL neural retina leucine zipper gene DOID:8466 retinal degeneration ISO RGD:1313083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15591106 12080349 NRL neural retina leucine zipper gene DOID:8499 night blindness ISO RGD:1313083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12796249|PMID:15591106 12080349 NRL neural retina leucine zipper gene DOID:8501 fundus dystrophy ISO RGD:1313083 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11385710|PMID:17335001|PMID:21981118|PMID:22334370|PMID:25741868|PMID:28492532|PMID:29385733 12080349 NRL neural retina leucine zipper gene DOID:9000265 Specific Granule Deficiency ISO RGD:1313083 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12080349 NRL neural retina leucine zipper gene DOID:9000520 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial ISO RGD:1313083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PCK2-related neuropathy | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial PMID:24033266|PMID:25741868|PMID:28492532 12080349 NRL neural retina leucine zipper gene DOID:9001923 Foveal Hypoplasia ISO RGD:1313083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Foveal hypoplasia PMID:25741868|PMID:28492532|PMID:29385733 12080349 NRL neural retina leucine zipper gene DOID:9002610 Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type ISO RGD:1313083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal degeneration, autosomal recessive, clumped pigment type PMID:11694879|PMID:15591106|PMID:17335001|PMID:25412400|PMID:25741868|PMID:28492532 12080349 NRL neural retina leucine zipper gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1313083 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12080355 MYOM2 myomesin 2 gene DOID:630 genetic disease ISO RGD:1343651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080355 MYOM2 myomesin 2 gene DOID:9006836 Contracture ISO RGD:1343651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 12080356 BAG4 BAG cochaperone 4 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1350570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 12080356 BAG4 BAG cochaperone 4 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1350570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 12080356 BAG4 BAG cochaperone 4 gene DOID:1793 pancreatic cancer ISO RGD:1350570 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:10799310|REF_RGD_ID:2325852 12080356 BAG4 BAG cochaperone 4 gene DOID:607 paraplegia ISO RGD:1350570 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12080356 BAG4 BAG cochaperone 4 gene DOID:630 genetic disease ISO RGD:1350570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080368 KRBA1 KRAB-A domain containing 1 gene DOID:630 genetic disease ISO RGD:1603293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080413 PRG4 proteoglycan 4 gene DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome ISO RGD:1319063 D RGD:7240710 20180130 OMIM 12080413 PRG4 proteoglycan 4 gene DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome ISO RGD:1319063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome PMID:10545950|PMID:25741868|PMID:29397575|PMID:32860008 12080413 PRG4 proteoglycan 4 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1319063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12080413 PRG4 proteoglycan 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1319063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12080413 PRG4 proteoglycan 4 gene DOID:1787 pericarditis ISO RGD:1319063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10545950 12080413 PRG4 proteoglycan 4 gene DOID:1787 pericarditis ISO RGD:1319063 D RGD:9068941 20200609 RGD PMID:16429407|REF_RGD_ID:1580712 12080413 PRG4 proteoglycan 4 gene DOID:630 genetic disease ISO RGD:1319063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080413 PRG4 proteoglycan 4 gene DOID:9002221 Hyperplasia ISO RGD:1319063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10545950 12080413 PRG4 proteoglycan 4 gene DOID:9006836 Contracture ISO RGD:1319063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10545950 12080413 PRG4 proteoglycan 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12080432 C35H6orf52 chromosome 35 C6orf52 homolog gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:1348700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 13 with adult I phenotype PMID:28492532 12080432 C35H6orf52 chromosome 35 C6orf52 homolog gene DOID:630 genetic disease ISO RGD:1348700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080462 MXD4 MAX dimerization protein 4 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1312919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12080462 MXD4 MAX dimerization protein 4 gene DOID:1856 cherubism ISO RGD:1312919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12080462 MXD4 MAX dimerization protein 4 gene DOID:630 genetic disease ISO RGD:1312919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080566 FEN1 flap structure-specific endonuclease 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:732679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12080566 FEN1 flap structure-specific endonuclease 1 gene DOID:1059 intellectual disability ISO RGD:732679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12080566 FEN1 flap structure-specific endonuclease 1 gene DOID:1612 breast cancer disease_progression ISO RGD:732679 D RGD:9068941 20200609 RGD DNA,mRNA:hypomethylation,increased expression:promoter,breast PMID:19010819|REF_RGD_ID:6484520 12080566 FEN1 flap structure-specific endonuclease 1 gene DOID:299 adenocarcinoma susceptibility ISO RGD:732680 D RGD:9068941 20200609 RGD PMID:12119409|REF_RGD_ID:737746 12080566 FEN1 flap structure-specific endonuclease 1 gene DOID:417 autoimmune disease ISO RGD:732680 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E160D PMID:17589521|REF_RGD_ID:6484213 12080566 FEN1 flap structure-specific endonuclease 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12080566 FEN1 flap structure-specific endonuclease 1 gene DOID:630 genetic disease ISO RGD:732679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080566 FEN1 flap structure-specific endonuclease 1 gene DOID:9002245 Intestinal Neoplasms disease_progression ISO RGD:10166 D RGD:9068941 20200609 RGD DNA:haploinsufficiency: : PMID:12119409|REF_RGD_ID:737746 12080566 FEN1 flap structure-specific endonuclease 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732679 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28371273 12080566 FEN1 flap structure-specific endonuclease 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732680 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E160D PMID:17589521|REF_RGD_ID:6484213 12080566 FEN1 flap structure-specific endonuclease 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:732679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 12080566 FEN1 flap structure-specific endonuclease 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732679 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 12080575 FLCN folliculin gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1604509 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:12204536|PMID:12471204|PMID:15805188|PMID:15852235|PMID:16199547|PMID:17028174|PMID:17496196|PMID:17576681|PMID:18234728|PMID:18505456|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21538689|PMID:21937013|PMID:22977732|PMID:23050938|PMID:23264078|PMID:23757202|PMID:23784378|PMID:24393238|PMID:24728327|PMID:25326637|PMID:25401301|PMID:25519458|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27652079|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28558743|PMID:28839995|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30548481|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:34008892|PMID:9536098 12080575 FLCN folliculin gene DOID:0050676 Birt-Hogg-Dube syndrome IAGP D RGD:12801476 20210603 OMIA Renal cystadenocarcinoma and nodular dermatofibrosis PMID:9335089|PMID:9403809|PMID:10759551|PMID:4049673|PMID:14532326|PMID:11032680|PMID:22871425|PMID:19387735|PMID:18984793|PMID:18219524|PMID:15366374|PMID:15157018|PMID:3793598|PMID:30672048 12080575 FLCN folliculin gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1604509 D RGD:7240710 20180130 OMIM 12080575 FLCN folliculin gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1604509 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome | ClinVar Annotator: match by term: Birt-Hogg-Dubé Syndrome | ClinVar Annotator: match by term: Fibrofolliculomas with trichodiscomas and acrochordons | ClinVar Annotator: match by term: Hornstein-Knickenberg syndrome PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19801896|PMID:19802896|PMID:19850877|PMID:20188345|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21412933|PMID:21506000|PMID:21520333|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22382802|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23052100|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23414156|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24297131|PMID:24346394|PMID:24393238|PMID:24728327|PMID:24910976|PMID:25059020|PMID:25126726|PMID:25302759|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25537564|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25807935|PMID:25827758|PMID:26028485|PMID:26334087|PMID:26342594|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26689913|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27642565|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27905298|PMID:27906882|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28724667|PMID:28785590|PMID:28805452|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29720200|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:30923304|PMID:31266032|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:33482948|PMID:33927747|PMID:34008892|PMID:34067022|PMID:34229741|PMID:34604083|PMID:35477461|PMID:35495172|PMID:35691222|PMID:9536098 12080575 FLCN folliculin gene DOID:0050777 Joubert syndrome ISO RGD:1604509 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12080575 FLCN folliculin gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1604509 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Duplication 17p11.2 syndrome | ClinVar Annotator: match by term: Potocki-Lupski syndrome | ClinVar Annotator: match by term: Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) PMID:12204536|PMID:12471204|PMID:15805188|PMID:15852235|PMID:16199547|PMID:17028174|PMID:17496196|PMID:17576681|PMID:18234728|PMID:18505456|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21538689|PMID:21937013|PMID:22977732|PMID:23050938|PMID:23264078|PMID:23757202|PMID:23784378|PMID:24393238|PMID:24728327|PMID:25326637|PMID:25401301|PMID:25519458|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27652079|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28558743|PMID:28837307|PMID:28839995|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30548481|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:34008892|PMID:9536098 12080575 FLCN folliculin gene DOID:0080218 primary spontaneous pneumothorax ISO RGD:1604509 D RGD:7240710 20180523 OMIM 12080575 FLCN folliculin gene DOID:0080218 primary spontaneous pneumothorax ISO RGD:1604509 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pneumothorax, primary spontaneous PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:16199547|PMID:17028174|PMID:17496196|PMID:17576681|PMID:18234728|PMID:18505456|PMID:18579543|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23264078|PMID:23757202|PMID:23784378|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24393238|PMID:24728327|PMID:25126726|PMID:25326637|PMID:25401301|PMID:25519458|PMID:25525159|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27652079|PMID:27734835|PMID:27905298|PMID:28007907|PMID:28492532|PMID:28558743|PMID:28839995|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30548481|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:34008892|PMID:9536098 12080575 FLCN folliculin gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1604509 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12080575 FLCN folliculin gene DOID:12849 autistic disorder ISO RGD:1604509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12080575 FLCN folliculin gene DOID:1520 colon carcinoma ISO RGD:1604509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:12843323|PMID:15805188|PMID:15852235|PMID:16199547|PMID:18234728|PMID:19457309|PMID:19802896|PMID:20618353|PMID:21937013|PMID:22703879|PMID:23050938|PMID:24033266|PMID:24393238|PMID:24728327|PMID:25594584|PMID:25741868|PMID:28492532|PMID:28558743 12080575 FLCN folliculin gene DOID:1520 colon carcinoma ISO RGD:1604509 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colon carcinoma PMID:12843323|PMID:15805188|PMID:15852235|PMID:16199547|PMID:18234728|PMID:19116017|PMID:19457309|PMID:19562744|PMID:20618353|PMID:21937013|PMID:22703879|PMID:23050938|PMID:24033266|PMID:24393238|PMID:24728327|PMID:25594584|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28558743 12080575 FLCN folliculin gene DOID:1673 pneumothorax ISO RGD:1604509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spontaneous pneumothorax PMID:25741868|PMID:28492532 12080575 FLCN folliculin gene DOID:2394 ovarian cancer ISO RGD:1604509 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:28492532|PMID:30548481 12080575 FLCN folliculin gene DOID:4450 renal cell carcinoma ISO RGD:1604509 D RGD:7240710 20180130 OMIM 12080575 FLCN folliculin gene DOID:4450 renal cell carcinoma treatment ISO RGD:735088 D RGD:9068941 20200609 RGD PMID:16369488|REF_RGD_ID:13605606 12080575 FLCN folliculin gene DOID:4851 pilocytic astrocytoma ISO RGD:1604509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pilocytic astrocytoma PMID:15852235|PMID:16199547|PMID:25741868|PMID:28492532 12080575 FLCN folliculin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1604509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12080575 FLCN folliculin gene DOID:6245 renal oncocytoma ISO RGD:1604509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12204536 12080575 FLCN folliculin gene DOID:630 genetic disease ISO RGD:1604509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080575 FLCN folliculin gene DOID:687 hepatoblastoma ISO RGD:1604509 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:28492532|PMID:35495172 12080575 FLCN folliculin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604509 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19785621|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25126726|PMID:25326637|PMID:25519458|PMID:25594584|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26334087|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:28007907|PMID:28151982|PMID:28166811|PMID:28202063|PMID:28492532|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28891800|PMID:28944238|PMID:28970150|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30360018|PMID:30580288|PMID:33137092|PMID:33482948|PMID:34008892|PMID:34067022|PMID:9536098 12080575 FLCN folliculin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604509 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26334087|PMID:26387484|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:28007907|PMID:28151982|PMID:28166811|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28873162|PMID:28891800|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:31615547|PMID:31958439|PMID:32091409|PMID:32257251|PMID:33137092|PMID:33482948|PMID:34008892|PMID:34067022|PMID:34229741|PMID:35495172|PMID:35691222|PMID:9536098 12080575 FLCN folliculin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604509 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26387484|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:27906882|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:31266032|PMID:31615547|PMID:31958439|PMID:32091409|PMID:32257251|PMID:33137092|PMID:33482948|PMID:34008892|PMID:34067022|PMID:34229741|PMID:35477461|PMID:35495172|PMID:35691222|PMID:9536098 12080575 FLCN folliculin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604509 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:19850877|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26387484|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27642565|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:27906882|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:31266032|PMID:31615547|PMID:31958439|PMID:32091409|PMID:32257251|PMID:33137092|PMID:33482948|PMID:34008892|PMID:34067022|PMID:34229741|PMID:34604083|PMID:35477461|PMID:35495172|PMID:35691222|PMID:9536098 12080575 FLCN folliculin gene DOID:9007188 Liver Neoplasms ISO RGD:1604509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12080575 FLCN folliculin gene DOID:9007253 Hamartoma ISO RGD:1604509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12204536|PMID:27072130 12080575 FLCN folliculin gene DOID:9007583 Cysts ISO RGD:1604509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27072130 12080575 FLCN folliculin gene DOID:9008443 Colorectal Neoplasms ISO RGD:1604509 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 12080575 FLCN folliculin gene DOID:9256 colorectal cancer ISO RGD:1604509 D RGD:7240710 20200226 OMIM 12080575 FLCN folliculin gene DOID:9256 colorectal cancer ISO RGD:1604509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:17496196|PMID:18505456|PMID:18794106|PMID:19562744|PMID:20522427|PMID:21538689|PMID:22703879|PMID:23155228|PMID:23217326|PMID:23757202|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26028485|PMID:26659639|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:29357828|PMID:29548312|PMID:30360018|PMID:34008892 12080575 FLCN folliculin gene DOID:9256 colorectal cancer ISO RGD:1604509 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:17496196|PMID:18505456|PMID:18794106|PMID:19562744|PMID:20522427|PMID:21538689|PMID:22703879|PMID:23155228|PMID:23217326|PMID:23757202|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26028485|PMID:26659639|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:33137092|PMID:34008892|PMID:34067022 12080575 FLCN folliculin gene DOID:9256 colorectal cancer ISO RGD:1604509 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:17496196|PMID:18505456|PMID:18794106|PMID:19562744|PMID:20301695|PMID:20522427|PMID:21538689|PMID:22703879|PMID:23155228|PMID:23217326|PMID:23757202|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26028485|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:33137092|PMID:34008892|PMID:34067022 12080575 FLCN folliculin gene DOID:9256 colorectal cancer ISO RGD:1604509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:16199547|PMID:17028174|PMID:17496196|PMID:17576681|PMID:18234728|PMID:18505456|PMID:18794106|PMID:19116017|PMID:19562744|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:21538689|PMID:22703879|PMID:22977732|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23757202|PMID:23784378|PMID:24033266|PMID:24055113|PMID:24728327|PMID:25326637|PMID:25401301|PMID:25519458|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27652079|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28558743|PMID:28839995|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:34008892|PMID:34067022|PMID:35691222|PMID:9536098 12080575 FLCN folliculin gene DOID:9256 colorectal cancer ISO RGD:1604509 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:16199547|PMID:17028174|PMID:17496196|PMID:17576681|PMID:18234728|PMID:18505456|PMID:18794106|PMID:19116017|PMID:19562744|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:21538689|PMID:22703879|PMID:22977732|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23757202|PMID:23784378|PMID:24033266|PMID:24055113|PMID:24728327|PMID:25326637|PMID:25401301|PMID:25519458|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27652079|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28558743|PMID:28839995|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30548481|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:34008892|PMID:34067022|PMID:35691222|PMID:9536098 12080609 BCAT2 branched chain amino acid transaminase 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:69002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12080609 BCAT2 branched chain amino acid transaminase 2 gene DOID:630 genetic disease ISO RGD:69002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12080609 BCAT2 branched chain amino acid transaminase 2 gene DOID:9000861 HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA ISO RGD:69002 D RGD:7240710 20200715 OMIM 12080609 BCAT2 branched chain amino acid transaminase 2 gene DOID:9000861 HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA ISO RGD:69002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypervalinemia and hyperleucine-isoleucinemia PMID:25653144 12080609 BCAT2 branched chain amino acid transaminase 2 gene DOID:9269 maple syrup urine disease ISO RGD:69002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14755340 12080609 BCAT2 branched chain amino acid transaminase 2 gene DOID:9269 maple syrup urine disease ISO RGD:69003 D RGD:9068941 20200609 RGD PMID:14755340|REF_RGD_ID:1300291 12080609 BCAT2 branched chain amino acid transaminase 2 gene DOID:9269 maple syrup urine disease ISO RGD:69003 D RGD:9068941 20220825 MouseDO OMIM:246900 | OMIM:248600 | OMIM:615135 12080630 OR2W1 olfactory receptor family 2 subfamily W member 1 gene DOID:11372 megacolon ISO RGD:1348465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12080630 OR2W1 olfactory receptor family 2 subfamily W member 1 gene DOID:630 genetic disease ISO RGD:1348465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080674 SLCO1A2 solute carrier organic anion transporter family member 1A2 gene DOID:12308 Dubin-Johnson syndrome ISO RGD:621389 D RGD:9068941 20200609 RGD PMID:14731123|REF_RGD_ID:1598620 12080674 SLCO1A2 solute carrier organic anion transporter family member 1A2 gene DOID:13580 cholestasis treatment ISO RGD:621389 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:27090119|REF_RGD_ID:15090804 12080674 SLCO1A2 solute carrier organic anion transporter family member 1A2 gene DOID:630 genetic disease ISO RGD:1607085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080674 SLCO1A2 solute carrier organic anion transporter family member 1A2 gene DOID:9452 fatty liver disease ISO RGD:621389 D RGD:9068941 20200609 RGD PMID:16139386|REF_RGD_ID:1598602 12080726 SLC25A40 solute carrier family 25 member 40 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1607018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12080726 SLC25A40 solute carrier family 25 member 40 gene DOID:630 genetic disease ISO RGD:1607018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080749 BMP7 bone morphogenetic protein 7 gene DOID:0050848 obstructive sleep apnea ISO RGD:1553810 D RGD:9068941 20220825 MouseDO OMIM:107650 12080749 BMP7 bone morphogenetic protein 7 gene DOID:0080011 bone resorption disease ISO RGD:1344234 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17513972 12080749 BMP7 bone morphogenetic protein 7 gene DOID:0080205 CAKUT ISO RGD:1344234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:27657687 12080749 BMP7 bone morphogenetic protein 7 gene DOID:0110113 atrial heart septal defect 8 ISO RGD:1344234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial septal defect 8 PMID:28492532 12080749 BMP7 bone morphogenetic protein 7 gene DOID:10283 prostate cancer ISO RGD:1344234 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:15861517|REF_RGD_ID:2289031 12080749 BMP7 bone morphogenetic protein 7 gene DOID:10283 prostate cancer susceptibility ISO RGD:1344234 D RGD:9068941 20200609 RGD DNA:amplification:prostate gland PMID:17656261|REF_RGD_ID:2289030 12080749 BMP7 bone morphogenetic protein 7 gene DOID:11400 pyelonephritis ISO RGD:620743 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16034630|REF_RGD_ID:2289039 12080749 BMP7 bone morphogenetic protein 7 gene DOID:12556 acute kidney tubular necrosis ISO RGD:620743 D RGD:9068941 20200609 RGD associated with Kidney Reperfusion Injury;protein:increased expression:kidney PMID:16284088|REF_RGD_ID:1601494 12080749 BMP7 bone morphogenetic protein 7 gene DOID:1612 breast cancer ISO RGD:1344234 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:17004110|REF_RGD_ID:1643590 12080749 BMP7 bone morphogenetic protein 7 gene DOID:2154 nephroblastoma ISO RGD:620743 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:9808158|REF_RGD_ID:2289034 12080749 BMP7 bone morphogenetic protein 7 gene DOID:289 endometriosis ISO RGD:1344234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12080749 BMP7 bone morphogenetic protein 7 gene DOID:3770 pulmonary fibrosis ISO RGD:1344234 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17975199 12080749 BMP7 bone morphogenetic protein 7 gene DOID:4001 ovarian carcinoma ISO RGD:1344234 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:15277215|REF_RGD_ID:2289032 12080749 BMP7 bone morphogenetic protein 7 gene DOID:4297 scimitar syndrome ISO RGD:1344234 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Total anomalous pulmonary venous return PMID:28492532 12080749 BMP7 bone morphogenetic protein 7 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1344234 D RGD:9068941 20200609 RGD PMID:17644140|REF_RGD_ID:1643589 12080749 BMP7 bone morphogenetic protein 7 gene DOID:557 kidney disease ISO RGD:620743 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16549155|REF_RGD_ID:2289038 12080749 BMP7 bone morphogenetic protein 7 gene DOID:630 genetic disease ISO RGD:1344234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19855013 12080749 BMP7 bone morphogenetic protein 7 gene DOID:6419 tetralogy of Fallot ISO RGD:1344234 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot 12080749 BMP7 bone morphogenetic protein 7 gene DOID:8398 osteoarthritis ISO RGD:1553810 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 12080749 BMP7 bone morphogenetic protein 7 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12080749 BMP7 bone morphogenetic protein 7 gene DOID:9000955 Acute Otitis Media ISO RGD:1553810 D RGD:9068941 20210611 RGD mRNA:increased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 12080749 BMP7 bone morphogenetic protein 7 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344234 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;mRNA:increased expression:bone PMID:12539225|REF_RGD_ID:2289033 12080749 BMP7 bone morphogenetic protein 7 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1344234 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:breast PMID:17895257|REF_RGD_ID:2289029 12080749 BMP7 bone morphogenetic protein 7 gene DOID:9001547 Tibial Fractures ISO RGD:620743 D RGD:9068941 20200609 RGD protein:increased expression:tibia PMID:16651391|REF_RGD_ID:2289037 12080749 BMP7 bone morphogenetic protein 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344234 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17127702 12080749 BMP7 bone morphogenetic protein 7 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:620743 D RGD:9068941 20230209 RGD protein:increased expression:lung, pulmonary artery (rat) PMID:31542483|REF_RGD_ID:155888480 12080749 BMP7 bone morphogenetic protein 7 gene DOID:9002165 Diabetic Nephropathies ISO RGD:620743 D RGD:9068941 20200609 RGD PMID:17437042|REF_RGD_ID:2289036 12080749 BMP7 bone morphogenetic protein 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:19283074 12080749 BMP7 bone morphogenetic protein 7 gene DOID:9002589 Bone Fractures ISO RGD:1344234 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27394662 12080749 BMP7 bone morphogenetic protein 7 gene DOID:9002809 Congenital Heart Defects, Multiple Types, 4 ISO RGD:1344234 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 4 12080749 BMP7 bone morphogenetic protein 7 gene DOID:9003959 Ventricular Septal Defect 1 ISO RGD:1344234 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ventricular septal defect 1 12080749 BMP7 bone morphogenetic protein 7 gene DOID:9007402 Gliosis ISO RGD:620743 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:17696121|REF_RGD_ID:1643225 12080749 BMP7 bone morphogenetic protein 7 gene DOID:9008763 Femoral Fractures ISO RGD:1344234 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16234978 12080749 BMP7 bone morphogenetic protein 7 gene DOID:9008763 Femoral Fractures ISO RGD:620743 D RGD:9068941 20200609 RGD PMID:9626398|REF_RGD_ID:2289041 12080768 PPP1R3C protein phosphatase 1 regulatory subunit 3C gene DOID:10283 prostate cancer ISO RGD:1319302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12080768 PPP1R3C protein phosphatase 1 regulatory subunit 3C gene DOID:630 genetic disease ISO RGD:1319302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080768 PPP1R3C protein phosphatase 1 regulatory subunit 3C gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12080768 PPP1R3C protein phosphatase 1 regulatory subunit 3C gene DOID:9352 type 2 diabetes mellitus ISO RGD:1319303 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 12080774 YARS1 tyrosyl-tRNA synthetase 1 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:1316914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate PMID:28492532 12080774 YARS1 tyrosyl-tRNA synthetase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1316914 D RGD:7240710 20180130 OMIM 12080774 YARS1 tyrosyl-tRNA synthetase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1316914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:14606043|PMID:16199547|PMID:16429158|PMID:17576681|PMID:19561293|PMID:21384131|PMID:21576112|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25741868|PMID:26138142|PMID:26257172|PMID:26467025|PMID:26975778|PMID:28492532|PMID:29302074|PMID:30304524|PMID:30340945|PMID:31130284|PMID:34352414|PMID:34536092|PMID:9536098 12080774 YARS1 tyrosyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1316914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:14606043|PMID:16429158|PMID:19561293|PMID:26138142|PMID:26257172|PMID:26975778|PMID:28492532 12080774 YARS1 tyrosyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1316914 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16429158|PMID:21384131|PMID:25741868|PMID:26257172|PMID:26467025|PMID:28492532|PMID:29302074|PMID:30340945|PMID:31130284|PMID:34536092 12080774 YARS1 tyrosyl-tRNA synthetase 1 gene DOID:9000988 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2 ISO RGD:1316914 D RGD:7240710 20210728 OMIM 12080774 YARS1 tyrosyl-tRNA synthetase 1 gene DOID:9000988 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2 ISO RGD:1316914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 PMID:25741868|PMID:26467025|PMID:27633801|PMID:28492532|PMID:29232904|PMID:29302074|PMID:30304524|PMID:31130284|PMID:33490854|PMID:34352414|PMID:34536092 12080774 YARS1 tyrosyl-tRNA synthetase 1 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1316914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:29232904 12080774 YARS1 tyrosyl-tRNA synthetase 1 gene DOID:9005516 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1 ISO RGD:1316914 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset PMID:25741868 12080774 YARS1 tyrosyl-tRNA synthetase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1316914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:27633801|PMID:33490854 12080795 BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:0050712 AGAT deficiency ISO RGD:1320975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 12080795 BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:0060547 Hermansky-Pudlak syndrome 9 ISO RGD:1320975 D RGD:7240710 20180130 OMIM 12080795 BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:0060547 Hermansky-Pudlak syndrome 9 ISO RGD:1320975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 9 PMID:10610180|PMID:16199547|PMID:17576681|PMID:21665000|PMID:22461475|PMID:25741868|PMID:26575419|PMID:28492532|PMID:32245340|PMID:33543539|PMID:9536098 12080795 BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:2223 platelet storage pool deficiency ISO RGD:1320976 D RGD:9068941 20220825 MouseDO OMIM:185050 12080795 BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:2717 Bloom syndrome ISO RGD:1320975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12080795 BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1320975 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:25741868|PMID:28492532 12080795 BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1320975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:10610180|PMID:21665000|PMID:22461475|PMID:26575419|PMID:28492532|PMID:33543539 12080795 BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:630 genetic disease ISO RGD:1320975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12080795 BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:9256 colorectal cancer ISO RGD:1320975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12080795 BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:9675 pulmonary emphysema ISO RGD:1320976 D RGD:9068941 20220825 MouseDO OMIM:130700 12080808 APOD apolipoprotein D gene DOID:10652 Alzheimer's disease ISO RGD:737460 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid, hippocampus PMID:9751198|REF_RGD_ID:2311209 12080808 APOD apolipoprotein D gene DOID:11714 gestational diabetes ISO RGD:737460 D RGD:9068941 20200609 RGD PMID:6828336|REF_RGD_ID:2311180 12080808 APOD apolipoprotein D gene DOID:1289 neurodegenerative disease ISO RGD:737460 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18458334 12080808 APOD apolipoprotein D gene DOID:1824 status epilepticus ISO RGD:2137 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:10372566|REF_RGD_ID:2311203 12080808 APOD apolipoprotein D gene DOID:3070 high grade glioma ISO RGD:737460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16865689 12080808 APOD apolipoprotein D gene DOID:4762 vasculogenic impotence ISO RGD:2137 D RGD:9068941 20200609 RGD mRNA:increased expression:penis erectile tissue PMID:11444882|REF_RGD_ID:2311196 12080808 APOD apolipoprotein D gene DOID:630 genetic disease ISO RGD:737460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080808 APOD apolipoprotein D gene DOID:8927 learning disability ISO RGD:737460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18419796 12080808 APOD apolipoprotein D gene DOID:9000831 Hypokinesia ISO RGD:737460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21688324 12080808 APOD apolipoprotein D gene DOID:9000998 Brain Injuries ISO RGD:2137 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex, glia cell, neuron PMID:10501208|REF_RGD_ID:2311202 12080808 APOD apolipoprotein D gene DOID:9007096 Stroke ISO RGD:2137 D RGD:9068941 20200609 RGD PMID:17851453|REF_RGD_ID:2311182 12080808 APOD apolipoprotein D gene DOID:9352 type 2 diabetes mellitus ISO RGD:737460 D RGD:9068941 20200609 RGD PMID:15369805|REF_RGD_ID:2311177 12080808 APOD apolipoprotein D gene DOID:9352 type 2 diabetes mellitus ISO RGD:737460 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:7895459|REF_RGD_ID:2311178 12080808 APOD apolipoprotein D gene DOID:9970 obesity ISO RGD:737460 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:7913935|REF_RGD_ID:2311179 12080817 HSPE1 heat shock 10kDa protein 1 (chaperonin 10) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12080847 SIK3 SIK family kinase 3 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12080847 SIK3 SIK family kinase 3 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12080847 SIK3 SIK family kinase 3 gene DOID:0080690 RASopathy ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12080847 SIK3 SIK family kinase 3 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12080847 SIK3 SIK family kinase 3 gene DOID:0111123 nephronophthisis 15 ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 12080847 SIK3 SIK family kinase 3 gene DOID:0111971 immunodeficiency 18 ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12080847 SIK3 SIK family kinase 3 gene DOID:0111972 immunodeficiency 19 ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12080847 SIK3 SIK family kinase 3 gene DOID:0111973 immunodeficiency 17 ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12080847 SIK3 SIK family kinase 3 gene DOID:1059 intellectual disability ISO RGD:1603681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12080847 SIK3 SIK family kinase 3 gene DOID:630 genetic disease ISO RGD:1603681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080847 SIK3 SIK family kinase 3 gene DOID:9000975 Spondyloepimetaphyseal Dysplasia, Krakow Type ISO RGD:1603681 D RGD:7240710 20190315 OMIM 12080847 SIK3 SIK family kinase 3 gene DOID:9000975 Spondyloepimetaphyseal Dysplasia, Krakow Type ISO RGD:1603681 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Krakow type PMID:25741868|PMID:28492532|PMID:30232230 12080847 SIK3 SIK family kinase 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12080847 SIK3 SIK family kinase 3 gene DOID:9007661 Dwarfism ISO RGD:1603681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12080881 NFKBIA NFKB inhibitor alpha gene DOID:0050745 diffuse large B-cell lymphoma no_association ISO RGD:735440 D RGD:9068941 20200609 RGD SNA:polymorphism(s) PMID:15198731|REF_RGD_ID:2298905 12080881 NFKBIA NFKB inhibitor alpha gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:3171 D RGD:9068941 20200609 RGD associated with Liver Neoplasms PMID:20045035|REF_RGD_ID:10413878 12080881 NFKBIA NFKB inhibitor alpha gene DOID:0080600 COVID-19 ISO RGD:735440 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12080881 NFKBIA NFKB inhibitor alpha gene DOID:0080815 childhood-onset asthma exacerbates ISO RGD:735440 D RGD:9068941 20210618 RGD associated with respiratory syncytial virus infectious disease;DNA:SNPs:protomer: (rs2233409) (human) PMID:23487427|REF_RGD_ID:40902982 12080881 NFKBIA NFKB inhibitor alpha gene DOID:0080998 acute necrotizing pancreatitis treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:19174608|REF_RGD_ID:10414072 12080881 NFKBIA NFKB inhibitor alpha gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:735440 D RGD:7240710 20180130 OMIM 12080881 NFKBIA NFKB inhibitor alpha gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:735440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:14523047|PMID:15337789|PMID:17576681|PMID:17931563|PMID:18412279|PMID:23708964|PMID:23864385|PMID:23870671|PMID:24033266|PMID:25601653|PMID:25741868|PMID:26888281|PMID:28417298|PMID:28492532|PMID:28629746|PMID:29948576|PMID:32581362|PMID:9536098 12080881 NFKBIA NFKB inhibitor alpha gene DOID:10283 prostate cancer ISO RGD:735440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12080881 NFKBIA NFKB inhibitor alpha gene DOID:10283 prostate cancer disease_progression ISO RGD:735440 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation PMID:23093296|REF_RGD_ID:13506767 12080881 NFKBIA NFKB inhibitor alpha gene DOID:10283 prostate cancer no_association ISO RGD:735440 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2233406, rs3138053 (human) PMID:26834482|REF_RGD_ID:13506766 12080881 NFKBIA NFKB inhibitor alpha gene DOID:10283 prostate cancer no_association ISO RGD:735440 D RGD:9068941 20200609 RGD DNA:polymorphism:3' UTR PMID:26068031|REF_RGD_ID:11054182 12080881 NFKBIA NFKB inhibitor alpha gene DOID:10283 prostate cancer susceptibility ISO RGD:735440 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-826C>T, -881A>G (human) PMID:26068031|REF_RGD_ID:11054182 12080881 NFKBIA NFKB inhibitor alpha gene DOID:10763 hypertension treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:19246475|REF_RGD_ID:7495780 12080881 NFKBIA NFKB inhibitor alpha gene DOID:11383 cryptorchidism ISO RGD:10975 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:22777528|REF_RGD_ID:11567213 12080881 NFKBIA NFKB inhibitor alpha gene DOID:11446 sciatic neuropathy treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:18938092|REF_RGD_ID:10413869 12080881 NFKBIA NFKB inhibitor alpha gene DOID:11650 bronchopulmonary dysplasia exacerbates ISO RGD:735440 D RGD:9068941 20210625 RGD DNA:SNPs:promoter: (rs2233406, rs2233409) (human) PMID:23487427|REF_RGD_ID:40902982 12080881 NFKBIA NFKB inhibitor alpha gene DOID:1184 nephrotic syndrome exacerbates ISO RGD:735440 D RGD:9068941 20210625 RGD protein:decreased expression:peripheral blood mononuclear cell (human) PMID:17441336|REF_RGD_ID:127285019 12080881 NFKBIA NFKB inhibitor alpha gene DOID:12351 alcoholic hepatitis treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 12080881 NFKBIA NFKB inhibitor alpha gene DOID:12894 Sjogren's syndrome ISO RGD:10975 D RGD:9068941 20210514 RGD PMID:20696914|REF_RGD_ID:126908016 12080881 NFKBIA NFKB inhibitor alpha gene DOID:12894 Sjogren's syndrome ISO RGD:10975 D RGD:9068941 20220825 MouseDO OMIM:270150 12080881 NFKBIA NFKB inhibitor alpha gene DOID:1324 lung cancer susceptibility ISO RGD:735440 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:-826C>T,-881A>G (human) PMID:26870106|REF_RGD_ID:13793394 12080881 NFKBIA NFKB inhibitor alpha gene DOID:13250 diarrhea ameliorates ISO RGD:735440 D RGD:9068941 20210521 RGD human gene in a mouse model PMID:20008138|REF_RGD_ID:126925947 12080881 NFKBIA NFKB inhibitor alpha gene DOID:14115 toxic shock syndrome treatment ISO RGD:3171 D RGD:9068941 20210604 RGD PMID:11961112|REF_RGD_ID:126928137 12080881 NFKBIA NFKB inhibitor alpha gene DOID:1793 pancreatic cancer ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15861417 12080881 NFKBIA NFKB inhibitor alpha gene DOID:1883 hepatitis C susceptibility ISO RGD:735440 D RGD:9068941 20201218 RGD DNA:deletion:promoter: (rs28362491) (human) PMID:30056167|REF_RGD_ID:40902826 12080881 NFKBIA NFKB inhibitor alpha gene DOID:1909 melanoma ISO RGD:735440 D RGD:9068941 20200609 RGD DNA:insertion(s) PMID:17492467|REF_RGD_ID:2298900 12080881 NFKBIA NFKB inhibitor alpha gene DOID:2043 hepatitis B susceptibility ISO RGD:735440 D RGD:9068941 20210604 RGD DNA:SNPs:promoter:-826C>T, -881A>G (rs2233406, rs3138053) (human) PMID:25223483|REF_RGD_ID:40902986 12080881 NFKBIA NFKB inhibitor alpha gene DOID:2316 brain ischemia ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628779 12080881 NFKBIA NFKB inhibitor alpha gene DOID:2349 arteriosclerosis ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 12080881 NFKBIA NFKB inhibitor alpha gene DOID:2526 prostate adenocarcinoma ISO RGD:10975 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation PMID:15712212|REF_RGD_ID:2298768 12080881 NFKBIA NFKB inhibitor alpha gene DOID:2526 prostate adenocarcinoma severity ISO RGD:735440 D RGD:9068941 20200609 RGD PMID:15073126|REF_RGD_ID:13506768 12080881 NFKBIA NFKB inhibitor alpha gene DOID:289 endometriosis ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:23954358|REF_RGD_ID:10413877 12080881 NFKBIA NFKB inhibitor alpha gene DOID:2957 pulmonary tuberculosis ISO RGD:735440 D RGD:9068941 20210514 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:9379002|REF_RGD_ID:126908014 12080881 NFKBIA NFKB inhibitor alpha gene DOID:3068 glioblastoma treatment ISO RGD:735440 D RGD:9068941 20210625 RGD human cell line in a mouse model PMID:15692608|REF_RGD_ID:127285387 12080881 NFKBIA NFKB inhibitor alpha gene DOID:3310 atopic dermatitis ISO RGD:10975 D RGD:9068941 20220825 MouseDO OMIM:603165 12080881 NFKBIA NFKB inhibitor alpha gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:21122797|REF_RGD_ID:10413868 12080881 NFKBIA NFKB inhibitor alpha gene DOID:4029 gastritis treatment ISO RGD:3171 D RGD:9068941 20200609 RGD associated with Helicobacter Infections PMID:25335260|REF_RGD_ID:10413874 12080881 NFKBIA NFKB inhibitor alpha gene DOID:552 pneumonia susceptibility ISO RGD:735440 D RGD:9068941 20210528 RGD associated with combined immunodeficiency;DNA:missense mutation:CDS:c.106T>G (p.S36A) (human) PMID:31683054|REF_RGD_ID:126925985 12080881 NFKBIA NFKB inhibitor alpha gene DOID:5844 myocardial infarction treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:19616538|REF_RGD_ID:10413879 12080881 NFKBIA NFKB inhibitor alpha gene DOID:612 primary immunodeficiency disease ISO RGD:735440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:17931563|PMID:25741868|PMID:28492532|PMID:28629746|PMID:32581362 12080881 NFKBIA NFKB inhibitor alpha gene DOID:630 genetic disease ISO RGD:735440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12080881 NFKBIA NFKB inhibitor alpha gene DOID:684 hepatocellular carcinoma ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22022477 12080881 NFKBIA NFKB inhibitor alpha gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735440 D RGD:9068941 20201211 RGD associated with Chronic Hepatitis B;DNA:SNPs,haplotype:3'utr,promoter: 826C>T,881A>G (rs2233406,rs3138053) (human) PMID:19797428|REF_RGD_ID:40400751 12080881 NFKBIA NFKB inhibitor alpha gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:735440 D RGD:9068941 20210604 RGD associated with hepatitis B;DNA:SNP:promoter:-826C>T (rs2233406) (human) PMID:25223483|REF_RGD_ID:40902986 12080881 NFKBIA NFKB inhibitor alpha gene DOID:8567 Hodgkin's lymphoma ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19223558 12080881 NFKBIA NFKB inhibitor alpha gene DOID:8567 Hodgkin's lymphoma ISO RGD:735440 D RGD:9068941 20200609 RGD PMID:10340377|REF_RGD_ID:2298893 12080881 NFKBIA NFKB inhibitor alpha gene DOID:8567 Hodgkin's lymphoma ISO RGD:735440 D RGD:9068941 20200609 RGD DNA:deletion:C-terminally truncated protein PMID:10556199|REF_RGD_ID:2298894 12080881 NFKBIA NFKB inhibitor alpha gene DOID:865 vasculitis ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 12080881 NFKBIA NFKB inhibitor alpha gene DOID:8893 psoriasis ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953190 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:21134362|REF_RGD_ID:10413867 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9000099 Experimental Colitis treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:21642017|REF_RGD_ID:10413866 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9000310 Lung Injury ISO RGD:3171 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:19321049|REF_RGD_ID:10413876 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9000873 Adenoviridae Infections ameliorates ISO RGD:735440 D RGD:9068941 20210521 RGD human gene in a mouse model, associated with Animal Viral Hepatitis PMID:10692445|REF_RGD_ID:126925948 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:20199666|REF_RGD_ID:10413863 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9000965 Neoplasm Metastasis ISO RGD:735440 D RGD:9068941 20200609 RGD associated with prostate cancer;protein:increased serine phosphorylation PMID:23093296|REF_RGD_ID:13506767 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9000989 Pneumococcal Infections susceptibility ISO RGD:735440 D RGD:9068941 20210625 RGD DNA:SNP: :(rs1050851) (human) PMID:29407193|REF_RGD_ID:127285391 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9000989 Pneumococcal Infections susceptibility ISO RGD:735440 D RGD:9068941 20210625 RGD DNA:SNPs:enhancers: (rs3138053, rs2233406) (human) PMID:17463416|REF_RGD_ID:127285388 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26806094 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:3171 D RGD:9068941 20210625 RGD PMID:11557243|REF_RGD_ID:127285020 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9002676 Cerebral Hemorrhage ISO RGD:3171 D RGD:9068941 20200609 RGD protein:increased phosphorylation:brain PMID:20150961|REF_RGD_ID:10413872 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:3171 D RGD:9068941 20200609 RGD associated with Hypertension PMID:20231522|REF_RGD_ID:10413875 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9004283 Transplant Rejection treatment ISO RGD:10975 D RGD:9068941 20200609 RGD PMID:19399405|REF_RGD_ID:10413870 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9004283 Transplant Rejection treatment ISO RGD:3171 D RGD:9068941 20200709 RGD PMID:31828147|REF_RGD_ID:35316072 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9004484 Sepsis treatment ISO RGD:3171 D RGD:9068941 20210604 RGD PMID:14662889|REF_RGD_ID:126928138 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9004702 Pregnancy Complications susceptibility ISO RGD:735440 D RGD:9068941 20201218 RGD associated with Cytomegalovirus Infections;DNA:SNP:promoter: -94ins/delATTG (human) PMID:25792174|REF_RGD_ID:11342310 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:735440 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3171 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:22483164|REF_RGD_ID:10413864 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:20188823|REF_RGD_ID:10413873 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9005930 Endotoxemia exacerbates ISO RGD:10975 D RGD:9068941 20210514 RGD PMID:19098124|REF_RGD_ID:126908017 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9005930 Endotoxemia treatment ISO RGD:10975 D RGD:9068941 20210604 RGD PMID:10229101|REF_RGD_ID:126928139 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9006262 Cytomegalovirus Infections susceptibility ISO RGD:735440 D RGD:9068941 20201211 RGD associated with end stage renal disease;DNA:SNP:promoter: -94ins/delATTG (human) PMID:30431214|REF_RGD_ID:40902821 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9006623 Murine Acquired Immunodeficiency Syndrome ISO RGD:10975 D RGD:9068941 20210625 RGD protein:decreased expression:lymph node (mouse) PMID:10429205|REF_RGD_ID:127285021 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:735440 D RGD:9068941 20210618 RGD associated with respiratory syncytial virus infectious disease;DNA:SNP:promoter: (rs2233406) (human) PMID:23487427|REF_RGD_ID:40902982 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9007151 Deficiency of Interleukin-1 Receptor Antagonist ISO RGD:735440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:19304943|REF_RGD_ID:10413871 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:735440 D RGD:9068941 20210625 RGD DNA:enhancers: :(rs2233406, rs2233409) (human) PMID:29093318|REF_RGD_ID:127285389 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9008824 Sarcopenia ISO RGD:3171 D RGD:9068941 20200609 RGD protein:increased expression:soleus PMID:15665035|REF_RGD_ID:10413861 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9008939 Breast Neoplasms ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9538 multiple myeloma ISO RGD:735440 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:12377412|PMID:16540234|REF_RGD_ID:2298895|REF_RGD_ID:2298898 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9588 encephalitis ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:16006567|REF_RGD_ID:5147676 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9675 pulmonary emphysema treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:20472710|REF_RGD_ID:4891488 12080881 NFKBIA NFKB inhibitor alpha gene DOID:9965 toxoplasmosis exacerbates ISO RGD:735440 D RGD:9068941 20210528 RGD human gene in a mouse model PMID:12626571|REF_RGD_ID:126925984 12080891 ANKRD52 ankyrin repeat domain 52 gene DOID:630 genetic disease ISO RGD:1601705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080923 WDR46 WD repeat domain 46 gene DOID:0050553 JMP syndrome ISO RGD:1353590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12080923 WDR46 WD repeat domain 46 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1353590 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 12080923 WDR46 WD repeat domain 46 gene DOID:630 genetic disease ISO RGD:1353590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080923 WDR46 WD repeat domain 46 gene DOID:9000217 Stomach Neoplasms ISO RGD:1353590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12080923 WDR46 WD repeat domain 46 gene DOID:9000918 Disease Progression ISO RGD:1353590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12080942 CGN cingulin gene DOID:0060041 autism spectrum disorder ISO RGD:1323740 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12080942 CGN cingulin gene DOID:0080422 Dravet syndrome ISO RGD:1323740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 12080942 CGN cingulin gene DOID:0111940 immunodeficiency 42 ISO RGD:1323740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12080942 CGN cingulin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1323740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12080942 CGN cingulin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1323740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12080942 CGN cingulin gene DOID:1540 parathyroid carcinoma ISO RGD:1323740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12080942 CGN cingulin gene DOID:5812 MHC class II deficiency ISO RGD:1323740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12080942 CGN cingulin gene DOID:630 genetic disease ISO RGD:1323740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080942 CGN cingulin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12080980 POU6F2 POU class 6 homeobox 2 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1322006 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 12080980 POU6F2 POU class 6 homeobox 2 gene DOID:12849 autistic disorder ISO RGD:1322006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20663923 12080980 POU6F2 POU class 6 homeobox 2 gene DOID:1921 Klinefelter syndrome ISO RGD:1322006 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 12080980 POU6F2 POU class 6 homeobox 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12080980 POU6F2 POU class 6 homeobox 2 gene DOID:630 genetic disease ISO RGD:1322006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080980 POU6F2 POU class 6 homeobox 2 gene DOID:9001781 Wilms Tumor 5 ISO RGD:1322006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wilms tumor 5 PMID:11284034|PMID:15459955 12080980 POU6F2 POU class 6 homeobox 2 gene DOID:9001781 Wilms Tumor 5 susceptibility ISO RGD:1322006 D RGD:7240710 20190502 OMIM 12080990 OR4B1E olfactory receptor family 4 subfamily B member 1E gene DOID:1059 intellectual disability ISO RGD:1352354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12080990 OR4B1E olfactory receptor family 4 subfamily B member 1E gene DOID:630 genetic disease ISO RGD:1352354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12080993 TEAD2 TEA domain transcription factor 2 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1344942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12080993 TEAD2 TEA domain transcription factor 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1344942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12080993 TEAD2 TEA domain transcription factor 2 gene DOID:630 genetic disease ISO RGD:1344942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:16476970|PMID:18798077|REF_RGD_ID:8551819|REF_RGD_ID:8551837 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:0080599 Coronavirus infectious disease ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:11543653|REF_RGD_ID:14401732 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:0080599 Coronavirus infectious disease ISO RGD:733487 D RGD:9068941 20200609 RGD Respiratory Syndrome, Severe Acute; mRNA:increased expression:lung (mouse) PMID:19906920|REF_RGD_ID:4891446 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:0080599 Coronavirus infectious disease ISO RGD:733487 D RGD:9068941 20220825 MouseDO 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:0081267 graft-versus-host disease ISO RGD:733487 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, liver, intestine (mouse) PMID:19571824|REF_RGD_ID:4892067 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:0110759 type 1 diabetes mellitus 22 ISO RGD:1351344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 22 PMID:25741868 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:0110759 type 1 diabetes mellitus 22 susceptibility ISO RGD:1351344 D RGD:7240710 20230517 OMIM 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:10140 dry eye syndrome ISO RGD:1351344 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:conjunctiva, epithelial cell PMID:16682594|REF_RGD_ID:8549761 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:10322 berylliosis disease_progression ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr:multiple (human) PMID:20075058|REF_RGD_ID:4892065 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:106 pleural tuberculosis ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:increased expression:pleural fluid, natural killer cell (human) PMID:19159432|REF_RGD_ID:4145106 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:10652 Alzheimer's disease ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:increased expression:brain, microglia (human) PMID:9665462|REF_RGD_ID:4890447 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:10652 Alzheimer's disease ISO RGD:620596 D RGD:9068941 20200609 RGD PMID:15979806|REF_RGD_ID:4890446 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:10763 hypertension ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) PMID:12680626|REF_RGD_ID:1581182 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:10763 hypertension ISO RGD:620596 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta (rat) PMID:20044442|REF_RGD_ID:4890416 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:10952 nephritis ISO RGD:1351344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26055553 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:11263 chlamydia ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:16118671|REF_RGD_ID:8549760 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:11335 sarcoidosis ISO RGD:1351344 D RGD:9068941 20200609 RGD Lofgren Syndrome; DNA:polymorphisms:5' utr:multiple (human) PMID:18311470|REF_RGD_ID:4892086 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:11382 corneal neovascularization ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:12556387|REF_RGD_ID:734790 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:1210 optic neuritis ISO RGD:1351344 D RGD:9068941 20200609 RGD PMID:11966770|REF_RGD_ID:8551840 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:12132 granulomatosis with polyangiitis ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) PMID:12858455|REF_RGD_ID:4892114 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:12574 posterior uveitis ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) PMID:17417600|REF_RGD_ID:8551817 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:12662 paracoccidioidomycosis ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:18292527|REF_RGD_ID:4892087 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:snps:5' utr:g.-2459A>G, g.-2554G>T (human) PMID:12964123|REF_RGD_ID:4892113 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:increased expression:blood, monocyte (human) PMID:18439876|REF_RGD_ID:4892079 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:12894 Sjogren's syndrome ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) PMID:12412204|REF_RGD_ID:8551796 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:12894 Sjogren's syndrome no_association ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) PMID:23773920|REF_RGD_ID:8551818 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:12895 keratoconjunctivitis sicca ISO RGD:1351344 D RGD:9068941 20200609 RGD PMID:16159632|REF_RGD_ID:8549757 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:13141 uveitis ISO RGD:620596 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:conjunctiva, ciliary body PMID:19104678|REF_RGD_ID:2306302 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:13241 Behcet's disease ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) PMID:17067435|REF_RGD_ID:8551814 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:13241 Behcet's disease ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:increased expression:blood, T cell (human) PMID:15501397|REF_RGD_ID:4892106 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:13241 Behcet's disease no_association ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) PMID:15009175|REF_RGD_ID:8551827 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:733487 D RGD:9068941 20200609 RGD protein:increased expression:lung, T-helper cell (mouse) PMID:16988274|REF_RGD_ID:4892091 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:13378 Kawasaki disease susceptibility ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation, haplotypes: :p.S185_T195del (rs333) (human) PMID:15962231|REF_RGD_ID:8551815 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:13378 Kawasaki disease susceptibility ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) PMID:17672867|REF_RGD_ID:8551811 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:13378 Kawasaki disease treatment ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:multiple PMID:20628649|REF_RGD_ID:8551812 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr:multiple (human) PMID:19679608|REF_RGD_ID:4892066 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:13406 pulmonary sarcoidosis disease_progression ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:altered expression:lung, lymphocyte, macrophage (human) PMID:11790661|REF_RGD_ID:4892099 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:1407 anterior uveitis ISO RGD:620596 D RGD:9068941 20200609 RGD mRNA:increased expression:iris, ciliary body (rat) PMID:15790900|REF_RGD_ID:4890448 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:1555 urticaria ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation, haplotype: :p.S185_T195del (rs333) (human) PMID:23727176|REF_RGD_ID:8551831 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:1612 breast cancer ISO RGD:1351344 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:24301790|REF_RGD_ID:8551816 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:1612 breast cancer disease_progression ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) PMID:14597737|REF_RGD_ID:8551810 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:1686 glaucoma ISO RGD:1351344 D RGD:9068941 20200609 RGD PMID:16159632|REF_RGD_ID:8549757 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:1793 pancreatic cancer ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:19155524|REF_RGD_ID:2317567 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:1824 status epilepticus ISO RGD:620596 D RGD:9068941 20200609 RGD PMID:22248156|REF_RGD_ID:8552226 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:1883 hepatitis C ISO RGD:1351344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HCV, RESISTANCE TO PMID:10520641|PMID:10615909|PMID:10803840|PMID:11081537|PMID:11403804|PMID:11403814|PMID:11517319|PMID:11781692|PMID:12874407|PMID:15744032|PMID:15863470|PMID:16216086|PMID:16248677|PMID:16418398|PMID:19017985|PMID:19073967|PMID:28492532|PMID:8639485|PMID:8751444|PMID:8756719|PMID:9055842|PMID:9132277|PMID:9140404|PMID:9207783|PMID:9466996|PMID:9511755|PMID:9585595|PMID:9600249|PMID:9768627 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:1883 hepatitis C no_association ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:deletion:cds: PMID:14673528|REF_RGD_ID:14401731 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:1883 hepatitis C susceptibility ISO RGD:1351344 D RGD:7240710 20230517 OMIM 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:1936 atherosclerosis treatment ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:16763157|REF_RGD_ID:8549763 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:1962 fallopian tube disease ISO RGD:1351344 D RGD:9068941 20200609 RGD associated with Chlamydia Infections;DNA:frameshift mutation: :p.S185_T195del (rs333) (human) PMID:16118671|REF_RGD_ID:8549760 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:2043 hepatitis B disease_progression ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:59029A>G,59353C>T PMID:17063508|REF_RGD_ID:14401727 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:2043 hepatitis B susceptibility ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:SNP: : rs1799987(human) PMID:29239247|REF_RGD_ID:14401574 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:2043 hepatitis B susceptibility ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:polymorphism: :DNA:deletion:Cds: PMID:27892677|REF_RGD_ID:14401575 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:2316 brain ischemia ISO RGD:620596 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (rat) PMID:9670989|REF_RGD_ID:632396 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:2349 arteriosclerosis ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:17138939|REF_RGD_ID:4890431 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:2366 West Nile fever ISO RGD:1351344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: West Nile virus, susceptibility to PMID:10520641|PMID:10615909|PMID:10803840|PMID:11081537|PMID:11403804|PMID:11403814|PMID:11517319|PMID:11781692|PMID:12874407|PMID:15744032|PMID:15863470|PMID:16216086|PMID:16248677|PMID:16418398|PMID:19017985|PMID:19073967|PMID:28492532|PMID:8639485|PMID:8751444|PMID:8756719|PMID:9055842|PMID:9132277|PMID:9140404|PMID:9207783|PMID:9466996|PMID:9511755|PMID:9585595|PMID:9600249|PMID:9768627 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:2366 West Nile fever susceptibility ISO RGD:1351344 D RGD:7240710 20230517 OMIM 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:2377 multiple sclerosis ISO RGD:1351344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple sclerosis modifier of disease progression PMID:10520641|PMID:10615909|PMID:10803840|PMID:11081537|PMID:11403804|PMID:11403814|PMID:11517319|PMID:11781692|PMID:12874407|PMID:15744032|PMID:15863470|PMID:16216086|PMID:16248677|PMID:16418398|PMID:19017985|PMID:19073967|PMID:28492532|PMID:8639485|PMID:8751444|PMID:8756719|PMID:9055842|PMID:9132277|PMID:9140404|PMID:9207783|PMID:9466996|PMID:9511755|PMID:9585595|PMID:9600249|PMID:9768627 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:2518 orchitis severity ISO RGD:620596 D RGD:9068941 20200609 RGD PMID:22351899|REF_RGD_ID:6767571 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:2841 asthma ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) PMID:20220260|REF_RGD_ID:4145638 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:2841 asthma ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:decreased expression:blood, lymphocyte (human) PMID:15256090|REF_RGD_ID:4892108 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:2841 asthma ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:16474097|REF_RGD_ID:4892093 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:2841 asthma ISO RGD:733487 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:18094012|REF_RGD_ID:4892088 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:2841 asthma no_association ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:polymorphism, frameshift mutation: :-59029G>A, p.S185_T195del (rs333) (human) PMID:23454776|REF_RGD_ID:8551842 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:2957 pulmonary tuberculosis ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:decreased expression:blood, T cell (human) PMID:16379602|REF_RGD_ID:4892094 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:3021 acute kidney failure ISO RGD:1351344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26055553 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:3042 allergic contact dermatitis ISO RGD:620596 D RGD:9068941 20200609 RGD mRNA:increased expression:skin, lymph node (rat) PMID:16977379|REF_RGD_ID:2325935 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:3082 interstitial lung disease ISO RGD:1351344 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic; protein:increased expression:blood, T cell (human) PMID:18383361|REF_RGD_ID:4892085 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:increased expression:blood (human) PMID:19229703|REF_RGD_ID:4892070 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:3121 gallbladder cancer onset ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) PMID:18405329|REF_RGD_ID:2317570 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:3310 atopic dermatitis ISO RGD:1351344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:3310 atopic dermatitis ISO RGD:1351344 D RGD:9068941 20200609 RGD PMID:16449815|REF_RGD_ID:6893391 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:3393 coronary artery disease ISO RGD:620596 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:17449418|REF_RGD_ID:4890438 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:3482 plague resistance ISO RGD:620596 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.H184R (rat) PMID:18703167|REF_RGD_ID:4890425 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:3526 cerebral infarction ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:23602964|REF_RGD_ID:8552262 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:3770 pulmonary fibrosis ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:decreased expression:lung, lymphocyte (human) PMID:15802346|REF_RGD_ID:4892101 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:3770 pulmonary fibrosis ISO RGD:733487 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:19762220|REF_RGD_ID:4145622 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:4001 ovarian carcinoma ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:increased expression:peritoneal fluid, leukocyte (human) PMID:11948121|REF_RGD_ID:4892092 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:4166 syphilis ISO RGD:1351344 D RGD:9068941 20200609 RGD PMID:18008231|REF_RGD_ID:8551830 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1351344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, increased perinatal transmission of | ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:10520641|PMID:10559343|PMID:10615909|PMID:10803840|PMID:11081537|PMID:11369664|PMID:11403804|PMID:11403814|PMID:11517319|PMID:11781692|PMID:12610055|PMID:12815099|PMID:12874407|PMID:15744032|PMID:15863470|PMID:16216086|PMID:16248677|PMID:16418398|PMID:19017985|PMID:19073967|PMID:28492532|PMID:33116287|PMID:8639485|PMID:8751444|PMID:8756719|PMID:9055842|PMID:9132277|PMID:9140404|PMID:9207783|PMID:9399903|PMID:9433423|PMID:9466996|PMID:9511755|PMID:9585595|PMID:9600249|PMID:9742978|PMID:9768627 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:1351344 D RGD:7240710 20230517 OMIM 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:552 pneumonia ISO RGD:733487 D RGD:9068941 20200609 RGD Idiopathic Pneumonia Syndrome; mRNA:increased expression:lung (mouse) PMID:15546955|REF_RGD_ID:4892103 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:630 genetic disease ISO RGD:1351344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1351344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, delayed progression to PMID:12610055|PMID:12815099|PMID:9742978 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:16775617|REF_RGD_ID:1626284 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:676 juvenile rheumatoid arthritis no_association ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) PMID:17565662|REF_RGD_ID:1626283 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:7148 rheumatoid arthritis no_association ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) PMID:17565662|REF_RGD_ID:1626283 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:7148 rheumatoid arthritis resistance ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) PMID:16541097|REF_RGD_ID:1626290 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:783 end stage renal disease ISO RGD:620596 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney cortex (rat) PMID:19535570|REF_RGD_ID:4889989 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:8893 psoriasis ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:decreased expression:T cell PMID:23954573|REF_RGD_ID:8551838 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:8947 diabetic retinopathy ISO RGD:733487 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22677420|REF_RGD_ID:8551828 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1351344 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;mRNA:increased expression:lymph node PMID:24301790|REF_RGD_ID:8551816 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9000528 Coronary Disease resistance ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:polymorphisms:multiple (human) PMID:16055130|REF_RGD_ID:1581176 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9000918 Disease Progression ISO RGD:1351344 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35072892 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1351344 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35072892 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9000972 Fever ISO RGD:620596 D RGD:9068941 20200609 RGD PMID:15066130|REF_RGD_ID:2307192 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9000972 Fever ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:23999490|REF_RGD_ID:8552232 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9000998 Brain Injuries ISO RGD:620596 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:24344922|REF_RGD_ID:8552265 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9001488 Human Influenza ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:18617426|PMID:19039768|REF_RGD_ID:4892119|REF_RGD_ID:4892122 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9001488 Human Influenza severity ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) PMID:20875295|REF_RGD_ID:4892063 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733487 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver PMID:19603542|REF_RGD_ID:14401743 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:19603542|REF_RGD_ID:14401743 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9002056 Arterial Injury ISO RGD:620596 D RGD:9068941 20200609 RGD PMID:22292067|REF_RGD_ID:8552233 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351344 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :59029G>A (human) PMID:17428349|REF_RGD_ID:8549756 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:1351344 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:59029G>A (human) PMID:12610055|REF_RGD_ID:2307107 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9002170 Experimental Neoplasms ISO RGD:1351344 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35072892 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9002211 Hyperalgesia ISO RGD:620596 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries PMID:24589480|REF_RGD_ID:8551795 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9002211 Hyperalgesia ISO RGD:620596 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion (rat) PMID:18076762|REF_RGD_ID:4890034 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9002211 Hyperalgesia ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:22033364|PMID:23147416|REF_RGD_ID:8551809|REF_RGD_ID:8551820 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9002457 Experimental Arthritis ISO RGD:620596 D RGD:9068941 20200609 RGD mRNA:increased expression:ankle (rat) PMID:14674010|REF_RGD_ID:1582346 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:620596 D RGD:9068941 20200609 RGD PMID:22289897|REF_RGD_ID:5687744 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9002467 Mycoplasma Infections ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) PMID:17445875|REF_RGD_ID:4892129 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:620596 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord, macrophage, microglia (rat) PMID:17484785|REF_RGD_ID:4890436 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1351344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9003036 Oral Lichen Planus ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:increased expression:blood, T cell PMID:23490419|REF_RGD_ID:8551821 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1351344 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal mucosa (human) PMID:17982926|REF_RGD_ID:4145109 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620596 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral hemisphere (rat) PMID:16516309|REF_RGD_ID:4890442 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:23391218|REF_RGD_ID:8551839 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:deletion:cds: PMID:12055576|REF_RGD_ID:14401729 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:deletion:cds: PMID:12873822|REF_RGD_ID:14401737 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9004283 Transplant Rejection ISO RGD:620596 D RGD:9068941 20200609 RGD PMID:23498802|REF_RGD_ID:8552228 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9004283 Transplant Rejection treatment ISO RGD:620596 D RGD:9068941 20200609 RGD PMID:23446583|REF_RGD_ID:8552231 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9004545 Birth Injuries ISO RGD:620596 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple organs (rat) PMID:18554634|REF_RGD_ID:4890426 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9005175 Ulcer ISO RGD:1351344 D RGD:9068941 20200609 RGD associated with Herpes Genitalis PMID:18008231|REF_RGD_ID:8551830 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1351344 D RGD:9068941 20200609 RGD PMID:14597737|PMID:22637726|REF_RGD_ID:8551810|REF_RGD_ID:8551813 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9005372 Inflammation ISO RGD:620596 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental; protein:increased expression:synovial tissue, macrophage (rat) PMID:16320322|REF_RGD_ID:4144893 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620596 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:21575160|REF_RGD_ID:11533943 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9006741 Acute Hepatitis disease_progression ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:16175603|REF_RGD_ID:14401740 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9006944 Alcoholic Fatty Liver disease_progression ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:27859576|REF_RGD_ID:14401742 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9007090 Experimental Seizures treatment ISO RGD:620596 D RGD:9068941 20230128 RGD PMID:20940264|REF_RGD_ID:4889880 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:733487 D RGD:9068941 20200609 RGD acetaminophen PMID:24770590|REF_RGD_ID:14401733 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:decreased expression:blood, monocyte (human) PMID:15786508|REF_RGD_ID:4892017 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:620596 D RGD:9068941 20200609 RGD PMID:23456481|REF_RGD_ID:8552227 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9008225 Respirovirus Infections ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:17641009|REF_RGD_ID:4892127 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351344 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35072892 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9008551 Flaviviridae Infections ISO RGD:1351344 D RGD:9068941 20200609 RGD associated with hepatitis G virus infection; protein:decreased expression: T lymphocyte:hepatitis G virus infection PMID:12824783|REF_RGD_ID:14401734 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9008691 Liver Injury ISO RGD:620596 D RGD:9068941 20200609 RGD PMID:24205332|REF_RGD_ID:8552264 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9065 leishmaniasis ISO RGD:1351344 D RGD:9068941 20200609 RGD associated with HIV Infections;protein:increased expression:blood, T cell PMID:17457607|REF_RGD_ID:8551841 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9065 leishmaniasis disease_progression ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:10553079|REF_RGD_ID:8551832 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9074 systemic lupus erythematosus ISO RGD:1351344 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell PMID:21180278|REF_RGD_ID:6893428 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) PMID:23632983|REF_RGD_ID:8549764 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9111 cutaneous leishmaniasis no_association ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) PMID:17214851|REF_RGD_ID:8549765 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9146 visceral leishmaniasis treatment ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:24617012|REF_RGD_ID:14401738 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:17966842|REF_RGD_ID:2307064 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:620596 D RGD:9068941 20200609 RGD PMID:23063706|REF_RGD_ID:8552229 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9675 pulmonary emphysema ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:increased expression:lung, lymphocyte (human) PMID:15526056|REF_RGD_ID:4892104 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9675 pulmonary emphysema ISO RGD:733487 D RGD:9068941 20200609 RGD PMID:17883726|REF_RGD_ID:4892090 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9675 pulmonary emphysema ISO RGD:733487 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (mouse) PMID:16284650|REF_RGD_ID:4892098 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1351344 D RGD:9068941 20200609 RGD protein:decreased expression:blood, mononuclear cell PMID:12145160|REF_RGD_ID:2317571 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9744 type 1 diabetes mellitus ISO RGD:620596 D RGD:9068941 20200609 RGD mRNA:increased expression:splenocyte (rat) PMID:15240727|REF_RGD_ID:4890459 12081018 CCR5 C-C motif chemokine receptor 5 gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:1351344 D RGD:9068941 20200609 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) PMID:23773920|REF_RGD_ID:8551818 12081032 PAK5 p21 (RAC1) activated kinase 5 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1323766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 12081032 PAK5 p21 (RAC1) activated kinase 5 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1323766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 12081032 PAK5 p21 (RAC1) activated kinase 5 gene DOID:630 genetic disease ISO RGD:1323766 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081032 PAK5 p21 (RAC1) activated kinase 5 gene DOID:9245 Alagille syndrome ISO RGD:1323766 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532|PMID:32733715 12081052 SALL4 spalt like transcription factor 4 gene DOID:0060468 Holt-Oram syndrome ISO RGD:1351271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30067223 12081052 SALL4 spalt like transcription factor 4 gene DOID:0060468 Holt-Oram syndrome ISO RGD:1351271 D RGD:9068941 20200609 RGD DNA:deletion, nonsense mutations:exon:c.326delC, p.K175X, p.R617X (human) PMID:12843316|REF_RGD_ID:11556209 12081052 SALL4 spalt like transcription factor 4 gene DOID:0060747 Duane-radial ray syndrome ISO RGD:1351271 D RGD:7240710 20180425 OMIM 12081052 SALL4 spalt like transcription factor 4 gene DOID:0060747 Duane-radial ray syndrome ISO RGD:1351271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duane-radial ray syndrome PMID:11826030|PMID:12393809|PMID:12395297|PMID:12789647|PMID:12843316|PMID:12868480|PMID:15342710|PMID:16086360|PMID:16199547|PMID:16402211|PMID:16411190|PMID:17576681|PMID:22382802|PMID:25741868|PMID:26571382|PMID:26791099|PMID:27661448|PMID:28166811|PMID:28492532|PMID:31502745|PMID:8025439|PMID:8287186|PMID:843249|PMID:9536098 12081052 SALL4 spalt like transcription factor 4 gene DOID:0080074 neural tube defect ISO RGD:1619916 D RGD:9068941 20200609 RGD PMID:18818376|REF_RGD_ID:11556229 12081052 SALL4 spalt like transcription factor 4 gene DOID:0111381 IVIC syndrome ISO RGD:1351271 D RGD:7240710 20180130 OMIM 12081052 SALL4 spalt like transcription factor 4 gene DOID:0111381 IVIC syndrome ISO RGD:1351271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders PMID:17256792|PMID:25741868|PMID:28492532|PMID:7395922 12081052 SALL4 spalt like transcription factor 4 gene DOID:10754 otitis media ISO RGD:1619916 D RGD:9068941 20220825 MouseDO OMIM:166760 12081052 SALL4 spalt like transcription factor 4 gene DOID:12557 Duane retraction syndrome ISO RGD:1351271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16402211|PMID:30067223 12081052 SALL4 spalt like transcription factor 4 gene DOID:12557 Duane retraction syndrome ISO RGD:1351271 D RGD:9068941 20200609 RGD DNA:deletions, nonsense mutation:cds:c.1904delT, c.2425delG, p.R865X (human) PMID:12395297|REF_RGD_ID:11556232 12081052 SALL4 spalt like transcription factor 4 gene DOID:12557 Duane retraction syndrome ISO RGD:1351271 D RGD:9068941 20200609 RGD DNA:duplication:cds:c.410dupG (human) PMID:26791099|REF_RGD_ID:11532205 12081052 SALL4 spalt like transcription factor 4 gene DOID:12557 Duane retraction syndrome ISO RGD:1351271 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.M640IfsX25 (human) PMID:23687435|REF_RGD_ID:11556211 12081052 SALL4 spalt like transcription factor 4 gene DOID:12557 Duane retraction syndrome ISO RGD:1351271 D RGD:9068941 20200609 RGD DNA:nonsense mutation:cds:p.R905X (human) PMID:16411190|REF_RGD_ID:11556231 12081052 SALL4 spalt like transcription factor 4 gene DOID:12557 Duane retraction syndrome ISO RGD:1351271 D RGD:9068941 20200609 RGD DNA:snps, deletions, insertion:multiple (human) PMID:12393809|REF_RGD_ID:11556210 12081052 SALL4 spalt like transcription factor 4 gene DOID:12557 Duane retraction syndrome ISO RGD:1619916 D RGD:9068941 20200609 RGD PMID:17216607|REF_RGD_ID:11556215 12081052 SALL4 spalt like transcription factor 4 gene DOID:1657 ventricular septal defect ISO RGD:1351271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30067223 12081052 SALL4 spalt like transcription factor 4 gene DOID:1657 ventricular septal defect ISO RGD:1351271 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.R196W, p.S797C (human) PMID:19619907|REF_RGD_ID:11556206 12081052 SALL4 spalt like transcription factor 4 gene DOID:1911 endodermal sinus tumor ISO RGD:1351271 D RGD:9068941 20200609 RGD protein:increased expression:testis, nucleus (human) PMID:23347651|REF_RGD_ID:11557983 12081052 SALL4 spalt like transcription factor 4 gene DOID:2156 ovarian germ cell cancer ISO RGD:1351271 D RGD:9068941 20200609 RGD protein:increased expression:female gonad (human) PMID:19295406|REF_RGD_ID:11556233 12081052 SALL4 spalt like transcription factor 4 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1351271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30431698 12081052 SALL4 spalt like transcription factor 4 gene DOID:630 genetic disease ISO RGD:1351271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12081052 SALL4 spalt like transcription factor 4 gene DOID:687 hepatoblastoma ISO RGD:1351271 D RGD:9068941 20200609 RGD Embryonal Hepatoblastoma;protein:increased expression:liver (human) PMID:23822878|REF_RGD_ID:11556217 12081052 SALL4 spalt like transcription factor 4 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1351271 D RGD:9068941 20200609 RGD protein:increased expression:testis (human) PMID:19390421|REF_RGD_ID:11556205 12081052 SALL4 spalt like transcription factor 4 gene DOID:9004994 Embryo Loss ISO RGD:1619916 D RGD:9068941 20221103 RGD PMID:16790473|REF_RGD_ID:155631313 12081052 SALL4 spalt like transcription factor 4 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1351271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30067223 12081052 SALL4 spalt like transcription factor 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16402211 12081060 ETNK1 ethanolamine kinase 1 gene DOID:3307 teratoma ISO RGD:1317846 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 12081060 ETNK1 ethanolamine kinase 1 gene DOID:630 genetic disease ISO RGD:1317846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081060 ETNK1 ethanolamine kinase 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1317846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12081072 SLC35A4 solute carrier family 35 member A4 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1348037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12081072 SLC35A4 solute carrier family 35 member A4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348037 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12081072 SLC35A4 solute carrier family 35 member A4 gene DOID:630 genetic disease ISO RGD:1348037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081072 SLC35A4 solute carrier family 35 member A4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12081072 SLC35A4 solute carrier family 35 member A4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348037 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12081077 IGSF11 immunoglobulin superfamily member 11 gene DOID:630 genetic disease ISO RGD:1318715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081111 ZNF148 zinc finger protein 148 gene DOID:0060041 autism spectrum disorder ISO RGD:732332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12081111 ZNF148 zinc finger protein 148 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:732332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12081111 ZNF148 zinc finger protein 148 gene DOID:630 genetic disease ISO RGD:732332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12840224|PMID:27964749|PMID:28492532 12081111 ZNF148 zinc finger protein 148 gene DOID:9005641 GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES ISO RGD:732332 D RGD:7240710 20190315 OMIM 12081111 ZNF148 zinc finger protein 148 gene DOID:9005641 GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES ISO RGD:732332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies PMID:12840224|PMID:25741868|PMID:27964749 12081111 ZNF148 zinc finger protein 148 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:732332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 12081111 ZNF148 zinc finger protein 148 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:732332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12081111 ZNF148 zinc finger protein 148 gene DOID:9270 alkaptonuria ISO RGD:732332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12081128 TRIM16 tripartite motif containing 16 gene DOID:630 genetic disease ISO RGD:1348776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081128 TRIM16 tripartite motif containing 16 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1348776 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35442568 12081138 HS3ST4 heparan sulfate-glucosamine 3-sulfotransferase 4 gene DOID:630 genetic disease ISO RGD:1352921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081138 HS3ST4 heparan sulfate-glucosamine 3-sulfotransferase 4 gene DOID:670 amphetamine abuse ISO RGD:1352921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12081145 GLIS2 GLIS family zinc finger 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1345602 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12081145 GLIS2 GLIS family zinc finger 2 gene DOID:0111112 nephronophthisis 1 ISO RGD:1345602 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 12081145 GLIS2 GLIS family zinc finger 2 gene DOID:0111116 nephronophthisis 7 ISO RGD:1345602 D RGD:7240710 20180130 OMIM 12081145 GLIS2 GLIS family zinc finger 2 gene DOID:0111116 nephronophthisis 7 ISO RGD:1345602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis 7 PMID:17618285|PMID:23559409|PMID:25741868|PMID:26374130|PMID:28492532 12081145 GLIS2 GLIS family zinc finger 2 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1345602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 12081145 GLIS2 GLIS family zinc finger 2 gene DOID:1059 intellectual disability ISO RGD:1345602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12081145 GLIS2 GLIS family zinc finger 2 gene DOID:12712 nephronophthisis ISO RGD:1345602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:17618285|PMID:23559409|PMID:25741868|PMID:26374130|PMID:28492532 12081145 GLIS2 GLIS family zinc finger 2 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1345602 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 12081145 GLIS2 GLIS family zinc finger 2 gene DOID:1682 congenital heart disease ISO RGD:1345602 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 12081145 GLIS2 GLIS family zinc finger 2 gene DOID:1826 epilepsy ISO RGD:1345602 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12081145 GLIS2 GLIS family zinc finger 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1345602 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12081145 GLIS2 GLIS family zinc finger 2 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1345602 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:12114483|PMID:15706485|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12081145 GLIS2 GLIS family zinc finger 2 gene DOID:557 kidney disease ISO RGD:1345602 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 12081145 GLIS2 GLIS family zinc finger 2 gene DOID:630 genetic disease ISO RGD:1345602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12081145 GLIS2 GLIS family zinc finger 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345602 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12081160 CRLF2 cytokine receptor like factor 2 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1352132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24141364 12081160 CRLF2 cytokine receptor like factor 2 gene DOID:12849 autistic disorder ISO RGD:1352132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12081160 CRLF2 cytokine receptor like factor 2 gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:1352132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features PMID:19907440|PMID:19965641|PMID:20018760|PMID:22368272 12081160 CRLF2 cytokine receptor like factor 2 gene DOID:9002801 Recurrence ISO RGD:1352132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22904298 12081160 CRLF2 cytokine receptor like factor 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1352132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838194 12081172 IFIT3 interferon induced protein with tetratricopeptide repeats 3 gene DOID:0080600 COVID-19 ISO RGD:1353716 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12081172 IFIT3 interferon induced protein with tetratricopeptide repeats 3 gene DOID:14497 Wolman disease ISO RGD:1353716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:28492532 12081172 IFIT3 interferon induced protein with tetratricopeptide repeats 3 gene DOID:6000 congestive heart failure ISO RGD:1353716 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12081172 IFIT3 interferon induced protein with tetratricopeptide repeats 3 gene DOID:630 genetic disease ISO RGD:1353716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081172 IFIT3 interferon induced protein with tetratricopeptide repeats 3 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1353716 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 12081172 IFIT3 interferon induced protein with tetratricopeptide repeats 3 gene DOID:9001488 Human Influenza ISO RGD:1353716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12081172 IFIT3 interferon induced protein with tetratricopeptide repeats 3 gene DOID:9006205 Animal Disease Models ISO RGD:1353716 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12081178 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1351629 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12081178 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:0070004 myeloid neoplasm ISO RGD:1551869 D RGD:9068941 20200609 RGD PMID:12351651|REF_RGD_ID:1331842 12081178 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:12987 agranulocytosis ISO RGD:1351629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14617031 12081178 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:12987 agranulocytosis ISO RGD:1351629 D RGD:9068941 20200609 RGD associated with schizophrenia;DNA:SNPs:exons, intron:multiple PMID:14617031|REF_RGD_ID:11073696 12081178 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1351629 D RGD:9068941 20200609 RGD DNA:deletion:promoter: (human) PMID:18314446|REF_RGD_ID:11073691 12081178 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:1612 breast cancer susceptibility ISO RGD:1351629 D RGD:7240710 20230505 OMIM 12081178 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:2394 ovarian cancer ISO RGD:1351629 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 12081178 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:2773 contact dermatitis ISO RGD:1351629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12081178 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1351629 D RGD:9068941 20200609 RGD DNA:SNP: :rs1143684 (human) PMID:21351093|REF_RGD_ID:11073689 12081178 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:4961 bone marrow disease ISO RGD:1351629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12351651 12081178 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:630 genetic disease ISO RGD:1351629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081178 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12081178 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:9002514 Neointima ISO RGD:1303320 D RGD:9068941 20200609 RGD PMID:22508052|REF_RGD_ID:11073699 12081178 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:9004237 Hyperoxic Lung Injury ISO RGD:10473 D RGD:9068941 20200609 RGD PMID:16678022|REF_RGD_ID:10769360 12081178 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:9008023 Memory Disorders ISO RGD:1351629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20861374 12081178 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1351629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12081190 GAS7 growth arrest specific 7 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:1349821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 12081190 GAS7 growth arrest specific 7 gene DOID:630 genetic disease ISO RGD:1349821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081190 GAS7 growth arrest specific 7 gene DOID:9970 obesity ISO RGD:1349821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270708 12081225 EVC EvC ciliary complex subunit 1 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1342513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:10700162|PMID:10700184|PMID:14217223|PMID:17024374|PMID:17576681|PMID:19810119|PMID:23220543|PMID:25741868|PMID:28492532|PMID:29068549|PMID:31028937|PMID:9066272|PMID:9536098 12081225 EVC EvC ciliary complex subunit 1 gene DOID:0111571 Weyers acrofacial dysostosis ISO RGD:1342513 D RGD:7240710 20180130 OMIM 12081225 EVC EvC ciliary complex subunit 1 gene DOID:0111571 Weyers acrofacial dysostosis ISO RGD:1342513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrofacial dysostosis of Weyers | ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS PMID:10700184|PMID:18947413|PMID:19810119|PMID:19876929|PMID:23220543|PMID:25741868|PMID:28492532|PMID:7635486 12081225 EVC EvC ciliary complex subunit 1 gene DOID:12712 nephronophthisis ISO RGD:1342513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 12081225 EVC EvC ciliary complex subunit 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1342513 D RGD:7240710 20180130 OMIM 12081225 EVC EvC ciliary complex subunit 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1342513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:10700162|PMID:10700184|PMID:14217223|PMID:16199547|PMID:17024374|PMID:17576681|PMID:18454448|PMID:18947413|PMID:19251731|PMID:19744229|PMID:19810119|PMID:19876929|PMID:20184732|PMID:22190900|PMID:23220543|PMID:23924873|PMID:24431330|PMID:25046119|PMID:25174843|PMID:25492405|PMID:25640679|PMID:25741868|PMID:26621368|PMID:26625674|PMID:26748586|PMID:27453244|PMID:28253570|PMID:28492532|PMID:28854412|PMID:29068549|PMID:29229899|PMID:29321360|PMID:30805457|PMID:31028937|PMID:31319225|PMID:31338997|PMID:32055034|PMID:7628126|PMID:7635486|PMID:9066272|PMID:9536098 12081225 EVC EvC ciliary complex subunit 1 gene DOID:1657 ventricular septal defect ISO RGD:1342513 D RGD:9068941 20220929 RGD DNA:SNP::c.1727G>A(human) PMID:29257216|REF_RGD_ID:155260289 12081225 EVC EvC ciliary complex subunit 1 gene DOID:630 genetic disease ISO RGD:1342513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12081225 EVC EvC ciliary complex subunit 1 gene DOID:6678 tooth and nail syndrome ISO RGD:1342513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 12081252 MEX3D mex-3 RNA binding family member D gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1321562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 12081252 MEX3D mex-3 RNA binding family member D gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1321562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12081252 MEX3D mex-3 RNA binding family member D gene DOID:5339 cyclic hematopoiesis ISO RGD:1321562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12081252 MEX3D mex-3 RNA binding family member D gene DOID:630 genetic disease ISO RGD:1321562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081252 MEX3D mex-3 RNA binding family member D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12081262 WFDC10B WAP four-disulfide core domain 10B gene DOID:2234 focal epilepsy ISO RGD:1343114 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12081262 WFDC10B WAP four-disulfide core domain 10B gene DOID:630 genetic disease ISO RGD:1343114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081262 WFDC10B WAP four-disulfide core domain 10B gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1343114 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12081273 GIMAP1 GTPase, IMAP family member 1 gene DOID:2843 long QT syndrome ISO RGD:1350070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 12081273 GIMAP1 GTPase, IMAP family member 1 gene DOID:630 genetic disease ISO RGD:1350070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081280 FAM110D family with sequence similarity 110 member D gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1602464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 12081280 FAM110D family with sequence similarity 110 member D gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1602464 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12081280 FAM110D family with sequence similarity 110 member D gene DOID:630 genetic disease ISO RGD:1602464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081289 CCNP cyclin P gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1602462 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12081289 CCNP cyclin P gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12081289 CCNP cyclin P gene DOID:1342 congenital hypoplastic anemia ISO RGD:1602462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12081289 CCNP cyclin P gene DOID:2340 craniosynostosis ISO RGD:1602462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12081289 CCNP cyclin P gene DOID:630 genetic disease ISO RGD:1602462 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081289 CCNP cyclin P gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1602462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12081289 CCNP cyclin P gene DOID:9269 maple syrup urine disease ISO RGD:1602462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12081289 CCNP cyclin P gene DOID:9352 type 2 diabetes mellitus ISO RGD:1602462 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12081335 PCDH10 protocadherin 10 gene DOID:12849 autistic disorder ISO RGD:1348202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18621663 12081335 PCDH10 protocadherin 10 gene DOID:630 genetic disease ISO RGD:1348202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081363 DAPK3 death associated protein kinase 3 gene DOID:13938 amenorrhea ISO RGD:731385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12081363 DAPK3 death associated protein kinase 3 gene DOID:630 genetic disease ISO RGD:731385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081376 ITPRID2 ITPR interacting domain containing 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1321861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28041643 12081376 ITPRID2 ITPR interacting domain containing 2 gene DOID:630 genetic disease ISO RGD:1321861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081408 TOB2 transducer of ERBB2, 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1342508 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12081408 TOB2 transducer of ERBB2, 2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1342508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 12081408 TOB2 transducer of ERBB2, 2 gene DOID:12306 vitiligo ISO RGD:1342508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 12081408 TOB2 transducer of ERBB2, 2 gene DOID:630 genetic disease ISO RGD:1342508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081416 LOC483397 interferon-induced transmembrane protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12081416 LOC483397 interferon-induced transmembrane protein 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1316889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12081416 LOC483397 interferon-induced transmembrane protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12081416 LOC483397 interferon-induced transmembrane protein 1 gene DOID:3500 gallbladder adenocarcinoma disease_progression ISO RGD:1316889 D RGD:9068941 20210924 RGD PMID:29043607|REF_RGD_ID:150429712 12081416 LOC483397 interferon-induced transmembrane protein 1 gene DOID:5627 adenosquamous gallbladder carcinoma disease_progression ISO RGD:1316889 D RGD:9068941 20210924 RGD PMID:29043607|REF_RGD_ID:150429712 12081416 LOC483397 interferon-induced transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1316889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081416 LOC483397 interferon-induced transmembrane protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316889 D RGD:9068941 20201127 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12081422 DDIT4 DNA damage inducible transcript 4 gene DOID:0080600 COVID-19 ISO RGD:1346554 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12081422 DDIT4 DNA damage inducible transcript 4 gene DOID:1240 leukemia ISO RGD:1346554 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17379067 12081422 DDIT4 DNA damage inducible transcript 4 gene DOID:14330 Parkinson's disease ISO RGD:1346554 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17005863 12081422 DDIT4 DNA damage inducible transcript 4 gene DOID:403 mouth disease ISO RGD:1346554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 12081422 DDIT4 DNA damage inducible transcript 4 gene DOID:630 genetic disease ISO RGD:1346554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081422 DDIT4 DNA damage inducible transcript 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1346554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 12081422 DDIT4 DNA damage inducible transcript 4 gene DOID:9002955 Nerve Degeneration ISO RGD:1346554 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17005863 12081429 TMEM116 transmembrane protein 116 gene DOID:630 genetic disease ISO RGD:1603287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081456 LIMD1 LIM domain containing 1 gene DOID:630 genetic disease ISO RGD:1320381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081456 LIMD1 LIM domain containing 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1320381 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:735512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12754746 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:735513 D RGD:9068941 20220217 RGD PMID:32015322|REF_RGD_ID:151356909 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:0080600 COVID-19 ISO RGD:735512 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:0111940 immunodeficiency 42 ISO RGD:735512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:735512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:735512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:10534 stomach cancer ISO RGD:735512 D RGD:9068941 20220224 RGD protein:increased expression:stomach (human) PMID:28274596|REF_RGD_ID:151356999 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:10534 stomach cancer severity ISO RGD:735512 D RGD:9068941 20220224 RGD protein:increased expression:stomach (human) PMID:25482013|PMID:25672320|REF_RGD_ID:151356929|REF_RGD_ID:151356982 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:1115 sarcoma ISO RGD:735512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15217956 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:1324 lung cancer ISO RGD:735512 D RGD:9068941 20220217 RGD protein:increased expression:lung (human) PMID:28776569|REF_RGD_ID:151356930 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:1324 lung cancer ISO RGD:735512 D RGD:9068941 20220224 RGD DNA:SNP:promoter:-190indel, -235C>A, (rs3831987,rs3738484) PMID:21887682|REF_RGD_ID:151356991 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:1324 lung cancer ameliorates ISO RGD:735512 D RGD:9068941 20220217 RGD human cells in mouse model PMID:31662324|REF_RGD_ID:151356915 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:1540 parathyroid carcinoma ISO RGD:735512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:219 colon cancer ameliorates ISO RGD:735512 D RGD:9068941 20220217 RGD human cells in mouse model PMID:29899555|REF_RGD_ID:151356919 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:3908 lung non-small cell carcinoma ISO RGD:735512 D RGD:9068941 20220217 RGD protein:increased expression:lung, cytoplasm (human) PMID:24469836|REF_RGD_ID:151356906 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:735512 D RGD:9068941 20220224 RGD human cells in mouse model PMID:32276600|REF_RGD_ID:151357000 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735512 D RGD:9068941 20220217 RGD DNA:mutations:multiple PMID:27264345|REF_RGD_ID:151356758 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735512 D RGD:9068941 20220217 RGD protein:increased expression:lung, cytoplasm (human) PMID:29567880|REF_RGD_ID:151356750 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:735512 D RGD:9068941 20220217 RGD protein:increased expression:lung (human) PMID:31662324|PMID:32945371|REF_RGD_ID:151356915|REF_RGD_ID:151356931 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:3910 lung adenocarcinoma severity ISO RGD:735512 D RGD:9068941 20220217 RGD mRNA:increased expression:lung (human) PMID:31200834|REF_RGD_ID:151356911 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:3910 lung adenocarcinoma treatment ISO RGD:735512 D RGD:9068941 20220217 RGD human cells in mouse model PMID:31200834|REF_RGD_ID:151356911 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:5812 MHC class II deficiency ISO RGD:735512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:630 genetic disease ISO RGD:735512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9002189 High Myopia ISO RGD:735512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9002245 Intestinal Neoplasms ISO RGD:735513 D RGD:9068941 20220217 RGD PMID:32179094|REF_RGD_ID:151356755 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9005172 Lung Neoplasms ISO RGD:735512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19903766|PMID:27935865 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9065 leishmaniasis ISO RGD:735512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670606 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9206 Barrett's esophagus ISO RGD:735512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127259 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9256 colorectal cancer disease_progression ISO RGD:735512 D RGD:9068941 20220210 RGD DNA:SNP:promoter: (rs9803935) (human) PMID:32619164|REF_RGD_ID:151356738 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9256 colorectal cancer disease_progression ISO RGD:735512 D RGD:9068941 20220217 RGD mRNA,protein:increased expression:colon (human) PMID:29899555|REF_RGD_ID:151356919 12081468 MCL1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9538 multiple myeloma ISO RGD:735512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12429644 12081475 LOC474964 heterogeneous nuclear ribonucleoprotein C gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603848 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12081475 LOC474964 heterogeneous nuclear ribonucleoprotein C gene DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome ISO RGD:1603848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome PMID:25741868 12081475 LOC474964 heterogeneous nuclear ribonucleoprotein C gene DOID:630 genetic disease ISO RGD:1603848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081481 FYCO1 FYVE and coiled-coil domain autophagy adaptor 1 gene DOID:0110238 cataract 18 ISO RGD:1319203 D RGD:7240710 20180130 OMIM 12081481 FYCO1 FYVE and coiled-coil domain autophagy adaptor 1 gene DOID:0110238 cataract 18 ISO RGD:1319203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 18 PMID:11519376|PMID:17576681|PMID:21636066|PMID:25741868|PMID:27878435|PMID:28418495|PMID:28492532|PMID:33767456|PMID:9536098 12081481 FYCO1 FYVE and coiled-coil domain autophagy adaptor 1 gene DOID:630 genetic disease ISO RGD:1319203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12081481 FYCO1 FYVE and coiled-coil domain autophagy adaptor 1 gene DOID:83 cataract ISO RGD:1319203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract 12081481 FYCO1 FYVE and coiled-coil domain autophagy adaptor 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1319203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12081481 FYCO1 FYVE and coiled-coil domain autophagy adaptor 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1319203 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:12236 primary biliary cholangitis ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:1324 lung cancer ISO RGD:1605110 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:161 keratosis ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20404090 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:2237 hepatitis ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20404090 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:224 transient cerebral ischemia ISO RGD:733529 D RGD:9068941 20200609 RGD protein:decreased expression:brain (mouse) PMID:21075092|REF_RGD_ID:6893270 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:2797 idiopathic interstitial pneumonia ISO RGD:1605110 D RGD:9068941 20200609 RGD protein:increased expression:hyperplastic lung epithelium, alveolus (human) PMID:20718723|REF_RGD_ID:6893300 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:3121 gallbladder cancer ISO RGD:1605110 D RGD:9068941 20200609 RGD DNA:missense mutations, frameshift mutations:cds:multiple (human) PMID:18692501|REF_RGD_ID:6893398 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1605110 D RGD:9068941 20200609 RGD mRNA:increased expression:primary motor cortex (human) PMID:18957896|REF_RGD_ID:6893397 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22684020 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:5199 ureteral obstruction ISO RGD:621619 D RGD:9068941 20200609 RGD protein:altered expression:kidney cortex (rat) PMID:20734248|REF_RGD_ID:5133246 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1605110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:630 genetic disease ISO RGD:1605110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1605110 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:77 gastrointestinal system disease ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20404090 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:783 end stage renal disease ISO RGD:621619 D RGD:9068941 20200609 RGD protein:increased expression:renal cortex, cytosol (rat) PMID:20007347|REF_RGD_ID:6892947 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:8947 diabetic retinopathy ISO RGD:621619 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:retina PMID:23633659|REF_RGD_ID:10412733 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18692501 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:9000918 Disease Progression ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20124447 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1605110 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:22459801|REF_RGD_ID:6892954 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:621619 D RGD:9068941 20200609 RGD PMID:21439372|REF_RGD_ID:6893386 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052|PMID:29610475 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:9004009 Reperfusion Injury ISO RGD:621619 D RGD:9068941 20200609 RGD protein:decreased expression:left coronary artery (rat) PMID:18078953|REF_RGD_ID:6902919 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:9004009 Reperfusion Injury ISO RGD:733529 D RGD:9068941 20200609 RGD protein:decreased expression:brain, neuron, cytoplasm (mouse) PMID:21075092|REF_RGD_ID:6893270 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:9004250 Hepatic Insufficiency ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:9004484 Sepsis ISO RGD:733529 D RGD:9068941 20200609 RGD PMID:21799073|REF_RGD_ID:6892955 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:9005369 Hepatomegaly ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:9005930 Endotoxemia ISO RGD:733529 D RGD:9068941 20200609 RGD PMID:22609006|REF_RGD_ID:6892951 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733529 D RGD:9068941 20200609 RGD PMID:18417483|REF_RGD_ID:6893370 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1605110 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:22459801|REF_RGD_ID:6892954 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:9452 fatty liver disease ISO RGD:733529 D RGD:9068941 20200609 RGD PMID:22367278|REF_RGD_ID:6893372 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:9675 pulmonary emphysema ISO RGD:1605110 D RGD:9068941 20200609 RGD protein:increased expression:lung (human) PMID:18559366|REF_RGD_ID:5134973 12081512 KEAP1 kelch like ECH associated protein 1 gene DOID:9675 pulmonary emphysema onset ISO RGD:733529 D RGD:9068941 20200609 RGD PMID:19520915|REF_RGD_ID:6893395 12081525 OXSM 3-oxoacyl-ACP synthase, mitochondrial gene DOID:630 genetic disease ISO RGD:1603026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081542 SNAP25 synaptosome associated protein 25 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:734151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:25381298|PMID:25741868|PMID:28492532|PMID:33147442|PMID:33299146 12081542 SNAP25 synaptosome associated protein 25 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:734151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 12081542 SNAP25 synaptosome associated protein 25 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:734151 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:25741868 12081542 SNAP25 synaptosome associated protein 25 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:734151 D RGD:7240710 20180130 OMIM 12081542 SNAP25 synaptosome associated protein 25 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:734151 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 18 | ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:17576681|PMID:25381298|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33147442|PMID:33299146|PMID:9536098 12081542 SNAP25 synaptosome associated protein 25 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:734151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25381298|PMID:25741868|PMID:28492532|PMID:33147442|PMID:33299146 12081542 SNAP25 synaptosome associated protein 25 gene DOID:1059 intellectual disability ISO RGD:734151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:33299146 12081542 SNAP25 synaptosome associated protein 25 gene DOID:10907 microcephaly ISO RGD:734151 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:33299146 12081542 SNAP25 synaptosome associated protein 25 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:734152 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 12081542 SNAP25 synaptosome associated protein 25 gene DOID:14250 Down syndrome ISO RGD:734151 D RGD:9068941 20200609 RGD PMID:12499044|REF_RGD_ID:1579958 12081542 SNAP25 synaptosome associated protein 25 gene DOID:1596 depressive disorder ISO RGD:734151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12081542 SNAP25 synaptosome associated protein 25 gene DOID:1826 epilepsy ISO RGD:734151 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:28492532|PMID:33299146 12081542 SNAP25 synaptosome associated protein 25 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:734151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12081542 SNAP25 synaptosome associated protein 25 gene DOID:2234 focal epilepsy ISO RGD:734151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:25741868|PMID:33299146 12081542 SNAP25 synaptosome associated protein 25 gene DOID:2303 stereotypic movement disorder ISO RGD:734151 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:25741868|PMID:33299146 12081542 SNAP25 synaptosome associated protein 25 gene DOID:2468 psychotic disorder ISO RGD:734151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12081542 SNAP25 synaptosome associated protein 25 gene DOID:3312 bipolar disorder ISO RGD:734151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12081542 SNAP25 synaptosome associated protein 25 gene DOID:3635 congenital myasthenic syndrome ISO RGD:734151 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Presynaptic congenital myasthenic syndromes 12081542 SNAP25 synaptosome associated protein 25 gene DOID:5419 schizophrenia ISO RGD:734152 D RGD:9068941 20220825 MouseDO OMIM:181500 12081542 SNAP25 synaptosome associated protein 25 gene DOID:5723 optic atrophy ISO RGD:734151 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:33299146 12081542 SNAP25 synaptosome associated protein 25 gene DOID:630 genetic disease ISO RGD:734151 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 12081542 SNAP25 synaptosome associated protein 25 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:734151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy with generalized tonic-clonic seizures PMID:25741868|PMID:33299146 12081542 SNAP25 synaptosome associated protein 25 gene DOID:9000165 Neuromuscular Manifestations ISO RGD:734151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17023870 12081542 SNAP25 synaptosome associated protein 25 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 12081542 SNAP25 synaptosome associated protein 25 gene DOID:9005603 Muscle Hypotonia ISO RGD:734151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Unilateral Hypotonia PMID:25741868|PMID:33299146 12081542 SNAP25 synaptosome associated protein 25 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12081542 SNAP25 synaptosome associated protein 25 gene DOID:9007892 Tics ISO RGD:734151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17023870 12081542 SNAP25 synaptosome associated protein 25 gene DOID:9008086 Developmental Disabilities ISO RGD:734151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33299146 12081542 SNAP25 synaptosome associated protein 25 gene DOID:9245 Alagille syndrome ISO RGD:734151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:10213047|PMID:16575836|PMID:19058200|PMID:22382802|PMID:28492532|PMID:32733715 12081542 SNAP25 synaptosome associated protein 25 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12081542 SNAP25 synaptosome associated protein 25 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734152 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 12081542 SNAP25 synaptosome associated protein 25 gene DOID:9970 obesity ISO RGD:734152 D RGD:9068941 20220825 MouseDO OMIM:601665 12081558 NEBL nebulette gene DOID:0050700 cardiomyopathy ISO RGD:1318016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:28492532 12081558 NEBL nebulette gene DOID:0060224 atrial fibrillation ISO RGD:1318016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation 12081558 NEBL nebulette gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1318016 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076 12081558 NEBL nebulette gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1318016 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:20951326|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076 12081558 NEBL nebulette gene DOID:12930 dilated cardiomyopathy ISO RGD:1318016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:27186169|PMID:28166811|PMID:28492532|PMID:29247119|PMID:29544605|PMID:29915097|PMID:30165862|PMID:30206291|PMID:9536098 12081558 NEBL nebulette gene DOID:12930 dilated cardiomyopathy ISO RGD:1318016 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:27186169|PMID:28166811|PMID:28492532|PMID:29247119|PMID:29915097|PMID:30206291|PMID:9536098 12081558 NEBL nebulette gene DOID:12930 dilated cardiomyopathy ISO RGD:1318016 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28166811|PMID:28492532|PMID:28750076|PMID:29247119|PMID:29915097|PMID:30206291|PMID:9536098 12081558 NEBL nebulette gene DOID:12930 dilated cardiomyopathy ISO RGD:1318016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076|PMID:29247119|PMID:29544605|PMID:29915097|PMID:30165862|PMID:30206291|PMID:31737537|PMID:32746448|PMID:9536098 12081558 NEBL nebulette gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:1318016 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.N654K (human) PMID:11140941|REF_RGD_ID:1581084 12081558 NEBL nebulette gene DOID:2843 long QT syndrome ISO RGD:1318016 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076 12081558 NEBL nebulette gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1318016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 12081558 NEBL nebulette gene DOID:630 genetic disease ISO RGD:1318016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:25987543|PMID:28492532 12081558 NEBL nebulette gene DOID:9007820 Sudden Death ISO RGD:1318016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:25741868|PMID:28492532 12081558 NEBL nebulette gene DOID:9007925 Sudden Cardiac Death ISO RGD:1318016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death 12081611 TIMM17A translocase of inner mitochondrial membrane 17A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:733790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12081611 TIMM17A translocase of inner mitochondrial membrane 17A gene DOID:1540 parathyroid carcinoma ISO RGD:733790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12081611 TIMM17A translocase of inner mitochondrial membrane 17A gene DOID:630 genetic disease ISO RGD:733790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081611 TIMM17A translocase of inner mitochondrial membrane 17A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:733790 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12081611 TIMM17A translocase of inner mitochondrial membrane 17A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12081624 APOBEC2 apolipoprotein B mRNA editing enzyme catalytic subunit 2 gene DOID:630 genetic disease ISO RGD:1318670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:0050753 cerebellar ataxia ISO RGD:737272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:0050851 glomerulosclerosis ISO RGD:11305 D RGD:9068941 20200609 RGD PMID:19918242|REF_RGD_ID:12879501 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:0060326 myelomeningocele ISO RGD:737272 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs710218, rs2229682 (human) PMID:23427181|REF_RGD_ID:12879498 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:0060326 myelomeningocele ISO RGD:737272 D RGD:9068941 20200609 RGD DNA:deletion:intron:rs35565219 (human) PMID:21135204|REF_RGD_ID:11070819 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:737272 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure PMID:25741868 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:0090044 dystonia 9 ISO RGD:737272 D RGD:7240710 20180130 OMIM 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:0090044 dystonia 9 ISO RGD:737272 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY | ClinVar Annotator: match by term: Dystonia 9 PMID:10980529|PMID:11076005|PMID:11477212|PMID:12325075|PMID:15622525|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:17718830|PMID:18414213|PMID:18451999|PMID:18606970|PMID:19630075|PMID:19798636|PMID:20129935|PMID:20417043|PMID:21069159|PMID:21135204|PMID:21546317|PMID:21555602|PMID:21832227|PMID:21865127|PMID:22622956|PMID:22704013|PMID:22976442|PMID:23280796|PMID:23340081|PMID:23448551|PMID:25108116|PMID:25326635|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26216499|PMID:26467025|PMID:26537434|PMID:26598494|PMID:26615598|PMID:26982753|PMID:27351150|PMID:28018440|PMID:28116237|PMID:28492532|PMID:28961260|PMID:29961769|PMID:31196579|PMID:31737037|PMID:8808284|PMID:9536098 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:0090045 childhood onset GLUT1 deficiency syndrome 2 ISO RGD:737272 D RGD:7240710 20180130 OMIM 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:0090045 childhood onset GLUT1 deficiency syndrome 2 ISO RGD:737272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Childhood onset GLUT1 deficiency syndrome 2 | ClinVar Annotator: match by term: GLUT1 deficiency syndrome 2 | ClinVar Annotator: match by term: Paroxysmal exercise-induced dystonia PMID:10227690|PMID:10980529|PMID:11076005|PMID:11477212|PMID:11603379|PMID:12325075|PMID:14605501|PMID:15622525|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:17718830|PMID:18403583|PMID:18414213|PMID:18451999|PMID:18606970|PMID:19630075|PMID:19798636|PMID:19901175|PMID:19996082|PMID:20129935|PMID:20301603|PMID:20417043|PMID:20621801|PMID:21069159|PMID:21135204|PMID:21530357|PMID:21546317|PMID:21555602|PMID:21832227|PMID:23106342|PMID:23280796|PMID:23340081|PMID:2344855|PMID:23448551|PMID:24847886|PMID:24892788|PMID:25022942|PMID:25108116|PMID:25167861|PMID:25326635|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25982116|PMID:26193382|PMID:26216499|PMID:26467025|PMID:26537434|PMID:26598494|PMID:26615598|PMID:27351150|PMID:28116237|PMID:28492532|PMID:28961260|PMID:28971506|PMID:29530121|PMID:30271476|PMID:30588498|PMID:31302675|PMID:31605543|PMID:31737037|PMID:34305802|PMID:9462754|PMID:9536098 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:737272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:0111313 idiopathic generalized epilepsy 12 ISO RGD:737272 D RGD:7240710 20230505 OMIM 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:0111313 idiopathic generalized epilepsy 12 ISO RGD:737272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 12 PMID:10980529|PMID:11477212|PMID:15622525|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:19630075|PMID:19798636|PMID:20129935|PMID:20417043|PMID:21069159|PMID:21135204|PMID:21555602|PMID:21832227|PMID:22282645|PMID:23280796|PMID:23340081|PMID:23448551|PMID:25108116|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25982116|PMID:26193382|PMID:26467025|PMID:26537434|PMID:26598494|PMID:28116237|PMID:28492532|PMID:28556183|PMID:28717674|PMID:28961260|PMID:31737037|PMID:9536098 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:10487 Hirschsprung's disease ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:10975929|REF_RGD_ID:12879497 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:1059 intellectual disability ISO RGD:737272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18606970|PMID:19630075|PMID:20301603|PMID:25167861|PMID:25564316|PMID:25741868|PMID:26598494|PMID:28492532|PMID:32581362 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:1059 intellectual disability ISO RGD:737272 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:10980529|PMID:18606970|PMID:19630075|PMID:20129935|PMID:20301603|PMID:25167861|PMID:25326635|PMID:25564316|PMID:25741868|PMID:26216499|PMID:26598494|PMID:28492532|PMID:32581362 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:1059 intellectual disability ISO RGD:737272 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:10980529|PMID:16385454|PMID:18606970|PMID:19630075|PMID:20301500|PMID:20301603|PMID:25167861|PMID:25326635|PMID:25741868|PMID:28492532|PMID:32581362 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:1059 intellectual disability ISO RGD:737272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:10980529|PMID:18606970|PMID:19630075|PMID:20129935|PMID:20301603|PMID:21832227|PMID:25167861|PMID:25326635|PMID:25564316|PMID:25741868|PMID:26193382|PMID:26216499|PMID:26598494|PMID:28492532|PMID:32581362 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:10591 pre-eclampsia ISO RGD:737272 D RGD:9068941 20221103 RGD mRNA:decreased expression:chorionic villus (human) PMID:22840297|REF_RGD_ID:155631283 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:10652 Alzheimer's disease ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:8179300|REF_RGD_ID:2313620 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:10763 hypertension ISO RGD:3704 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus PMID:12771048|REF_RGD_ID:12879474 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:10907 microcephaly ISO RGD:737272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:10980529|PMID:20129935|PMID:21832227|PMID:25326635|PMID:25741868|PMID:26193382|PMID:26216499|PMID:28492532|PMID:32581362 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:1459 hypothyroidism ISO RGD:3704 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex PMID:16581179|REF_RGD_ID:12879481 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:1790 malignant mesothelioma ISO RGD:737272 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:1825 childhood absence epilepsy onset ISO RGD:737272 D RGD:9068941 20200609 RGD DNA:deletion, missense mutations, SNP:multiple PMID:26537434|REF_RGD_ID:11058811 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:1826 epilepsy ISO RGD:737272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:10980529|PMID:18403583|PMID:19996082|PMID:20129935|PMID:21832227|PMID:23106342|PMID:2344855|PMID:23448551|PMID:24847886|PMID:25326635|PMID:25741868|PMID:26193382|PMID:26216499|PMID:28492532 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:2154 nephroblastoma severity ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:22483234|REF_RGD_ID:12879482 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:255 hemangioma ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:10665907|REF_RGD_ID:12879499 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:737272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:29358611 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3704 D RGD:9068941 20200609 RGD PMID:9419067|REF_RGD_ID:12879855 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:4450 renal cell carcinoma ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7921415 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:543 dystonia ISO RGD:737272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder | ClinVar Annotator: match by term: Paroxysmal dystonia PMID:25741868|PMID:28492532 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:630 genetic disease ISO RGD:737272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10980529|PMID:11477212|PMID:16217704|PMID:16949238|PMID:17052934|PMID:18414213|PMID:19630075|PMID:19798636|PMID:20129935|PMID:20417043|PMID:20830593|PMID:21069159|PMID:21135204|PMID:21555602|PMID:21649651|PMID:21832227|PMID:21865127|PMID:22011817|PMID:22190371|PMID:22704013|PMID:22976442|PMID:23106342|PMID:23280796|PMID:23340081|PMID:23448551|PMID:24847886|PMID:25326635|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26216499|PMID:26467025|PMID:26537434|PMID:26598494|PMID:26982753|PMID:27078104|PMID:27250207|PMID:28018440|PMID:28102150|PMID:28492532|PMID:30588498|PMID:31196579|PMID:31737037|PMID:9462754 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:6364 migraine ISO RGD:737272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Migraine PMID:25741868|PMID:28492532 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:655 inherited metabolic disorder ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23452774 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8364915 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:83 cataract ISO RGD:70495 D RGD:9068941 20200609 RGD PMID:11222509|REF_RGD_ID:12801446 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:8398 osteoarthritis ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18973239 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:863 nervous system disease ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23452774 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9001834 Peritoneal Neoplasms ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9002035 Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly ISO RGD:737272 D RGD:7240710 20180130 OMIM 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9002035 Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly ISO RGD:737272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS | ClinVar Annotator: match by term: Stomatin-deficient cryohydrocytosis with neurologic defects PMID:10980529|PMID:11477212|PMID:12325075|PMID:15180870|PMID:15622525|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:17718830|PMID:18414213|PMID:18606970|PMID:19630075|PMID:19798636|PMID:20129935|PMID:20417043|PMID:21069159|PMID:21135204|PMID:21546317|PMID:21555602|PMID:21791420|PMID:21832227|PMID:23280796|PMID:23340081|PMID:23448551|PMID:25108116|PMID:25326635|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25982116|PMID:26193382|PMID:26216499|PMID:26467025|PMID:26537434|PMID:26598494|PMID:28116237|PMID:28492532|PMID:28961260|PMID:31737037|PMID:9536098 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:15745834|REF_RGD_ID:2312305 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:exon:g.20882C>T (human) PMID:26337659|REF_RGD_ID:12879466 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:3704 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22707888|REF_RGD_ID:12879861 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3704 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:9886959|REF_RGD_ID:12879480 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3704 D RGD:9068941 20200609 RGD protein:increased expression:placenta PMID:11738800|REF_RGD_ID:730192 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20138251 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11953883 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3704 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:19781384|REF_RGD_ID:2313601 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9004866 Ataxia ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11603379 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3704 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain PMID:17935675|REF_RGD_ID:2313617 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3704 D RGD:9068941 20200609 RGD PMID:8345816|REF_RGD_ID:12879858 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9007188 Liver Neoplasms ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26943884 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11953883 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9007802 GLUT1 Deficiency Syndrome ISO RGD:737272 D RGD:7240710 20180130 OMIM 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9007802 GLUT1 Deficiency Syndrome ISO RGD:737272 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Encephalopathy due to GLUT1 deficiency | ClinVar Annotator: match by term: GLUT1 deficiency syndrome | ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1 | ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive | ClinVar Annotator: match by term: Glucose transporter protein syndrome PMID:10980529|PMID:11076005|PMID:11102982|PMID:11136715|PMID:11389907|PMID:11477212|PMID:11603379|PMID:12325075|PMID:15622525|PMID:16172126|PMID:16199547|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:17718830|PMID:18387950|PMID:18403583|PMID:18414213|PMID:18451999|PMID:18577546|PMID:18606970|PMID:18614966|PMID:19237265|PMID:19630075|PMID:19798636|PMID:19996082|PMID:20129935|PMID:20221955|PMID:20301603|PMID:20417043|PMID:20574033|PMID:20621801|PMID:20630673|PMID:20687207|PMID:20830593|PMID:21069159|PMID:21135204|PMID:21204808|PMID:21530357|PMID:21546317|PMID:21555602|PMID:21649651|PMID:21832227|PMID:21865127|PMID:21937992|PMID:22011817|PMID:22282645|PMID:22622956|PMID:22704013|PMID:22814174|PMID:22976442|PMID:23020937|PMID:23106342|PMID:23280796|PMID:23306390|PMID:23340081|PMID:2344855|PMID:23448551|PMID:24080273|PMID:24215330|PMID:24847886|PMID:24892788|PMID:25022942|PMID:25099510|PMID:25108116|PMID:25167861|PMID:25326635|PMID:25381171|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26216499|PMID:26267703|PMID:26467025|PMID:26537434|PMID:26598494|PMID:26615598|PMID:26982753|PMID:27250207|PMID:27351150|PMID:27927575|PMID:28018440|PMID:28102150|PMID:28116237|PMID:28135719|PMID:28378819|PMID:28492532|PMID:28554332|PMID:28556183|PMID:28717674|PMID:28961260|PMID:28971506|PMID:29303961|PMID:29356177|PMID:29530121|PMID:29655203|PMID:29778030|PMID:29930392|PMID:29961769|PMID:30076047|PMID:30197081|PMID:30198221|PMID:30271476|PMID:30588498|PMID:30895386|PMID:31196579|PMID:31273778|PMID:31302675|PMID:31487502|PMID:31737037|PMID:32802945|PMID:33015236|PMID:33258288|PMID:33860439|PMID:34305802|PMID:8808284|PMID:9335548|PMID:9462754|PMID:9536098 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3704 D RGD:9068941 20200609 RGD PMID:10336852|REF_RGD_ID:12879857 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10980529|PMID:11603379|PMID:9462754 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9008138 Ductal Carcinoma ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9008582 Developmental Disease ISO RGD:737272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:19630075|PMID:25564316|PMID:25741868|PMID:26598494|PMID:28492532 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:17554865|REF_RGD_ID:12879502 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20197467 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9351 diabetes mellitus ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:10022440|REF_RGD_ID:12879500 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9589670 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:18613291|REF_RGD_ID:2312306 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:7516306|PMID:9789717|REF_RGD_ID:2312289|REF_RGD_ID:2312290 12081631 SLC2A1 solute carrier family 2 member 1 gene DOID:9970 obesity treatment ISO RGD:737272 D RGD:9068941 20200609 RGD associated with Polycystic Ovary Syndrome PMID:24842895|REF_RGD_ID:12879503 12081648 OR1M1B olfactory receptor family 1 subfamily M member 1B gene DOID:12849 autistic disorder ISO RGD:1350413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12081648 OR1M1B olfactory receptor family 1 subfamily M member 1B gene DOID:630 genetic disease ISO RGD:1350413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081654 ATP6V1H ATPase H+ transporting V1 subunit H gene DOID:630 genetic disease ISO RGD:1320995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081682 APH1B aph-1 homolog B, gamma-secretase subunit gene DOID:0110935 nemaline myopathy 6 ISO RGD:1344589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12081682 APH1B aph-1 homolog B, gamma-secretase subunit gene DOID:10652 Alzheimer's disease ISO RGD:1344589 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 12081682 APH1B aph-1 homolog B, gamma-secretase subunit gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1344589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12081682 APH1B aph-1 homolog B, gamma-secretase subunit gene DOID:2717 Bloom syndrome ISO RGD:1344589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12081682 APH1B aph-1 homolog B, gamma-secretase subunit gene DOID:3393 coronary artery disease ISO RGD:1344589 D RGD:9068941 20200609 RGD DNA:SNP:CDS:p.F217L (rs1047552) (human) PMID:18987747|REF_RGD_ID:13703124 12081682 APH1B aph-1 homolog B, gamma-secretase subunit gene DOID:630 genetic disease ISO RGD:1344589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081682 APH1B aph-1 homolog B, gamma-secretase subunit gene DOID:9003284 HIV Seropositivity susceptibility ISO RGD:1344589 D RGD:9068941 20200609 RGD DNA:SNP:CDS:p.F217L (rs1047552) (human) PMID:19774691|REF_RGD_ID:13703126 12081682 APH1B aph-1 homolog B, gamma-secretase subunit gene DOID:9256 colorectal cancer ISO RGD:1344589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12081700 ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif 7 gene DOID:11612 polycystic ovary syndrome ISO RGD:1315487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12081700 ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif 7 gene DOID:2717 Bloom syndrome ISO RGD:1315487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12081700 ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif 7 gene DOID:3393 coronary artery disease ISO RGD:1315487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 12081700 ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif 7 gene DOID:630 genetic disease ISO RGD:1315487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081700 ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif 7 gene DOID:9000528 Coronary Disease ISO RGD:1315487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Three Vessel Coronary Disease 12081700 ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif 7 gene DOID:9256 colorectal cancer ISO RGD:1315487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12081727 CEP126 centrosomal protein 126 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 12081727 CEP126 centrosomal protein 126 gene DOID:0080600 COVID-19 ISO RGD:1606251 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12081727 CEP126 centrosomal protein 126 gene DOID:1059 intellectual disability ISO RGD:1606251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12081727 CEP126 centrosomal protein 126 gene DOID:12704 ataxia telangiectasia ISO RGD:1606251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12081727 CEP126 centrosomal protein 126 gene DOID:630 genetic disease ISO RGD:1606251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081770 WNK3 WNK lysine deficient protein kinase 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12081770 WNK3 WNK lysine deficient protein kinase 3 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1346670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 12081770 WNK3 WNK lysine deficient protein kinase 3 gene DOID:12849 autistic disorder ISO RGD:1346670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12081770 WNK3 WNK lysine deficient protein kinase 3 gene DOID:630 genetic disease ISO RGD:1346670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12081770 WNK3 WNK lysine deficient protein kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346670 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 12081807 LRRC25 leucine rich repeat containing 25 gene DOID:630 genetic disease ISO RGD:1352396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081807 LRRC25 leucine rich repeat containing 25 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1352396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12081817 PARP16 poly(ADP-ribose) polymerase family member 16 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1350046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12081817 PARP16 poly(ADP-ribose) polymerase family member 16 gene DOID:2717 Bloom syndrome ISO RGD:1350046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12081817 PARP16 poly(ADP-ribose) polymerase family member 16 gene DOID:630 genetic disease ISO RGD:1350046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081817 PARP16 poly(ADP-ribose) polymerase family member 16 gene DOID:9256 colorectal cancer ISO RGD:1350046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12081827 CHCHD5 coiled-coil-helix-coiled-coil-helix domain containing 5 gene DOID:630 genetic disease ISO RGD:1317218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081838 S100A14 S100 calcium binding protein A14 gene DOID:0111940 immunodeficiency 42 ISO RGD:1344968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12081838 S100A14 S100 calcium binding protein A14 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12081838 S100A14 S100 calcium binding protein A14 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12081838 S100A14 S100 calcium binding protein A14 gene DOID:1540 parathyroid carcinoma ISO RGD:1344968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12081838 S100A14 S100 calcium binding protein A14 gene DOID:5812 MHC class II deficiency ISO RGD:1344968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12081838 S100A14 S100 calcium binding protein A14 gene DOID:630 genetic disease ISO RGD:1344968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081838 S100A14 S100 calcium binding protein A14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12081849 DACT2 dishevelled binding antagonist of beta catenin 2 gene DOID:630 genetic disease ISO RGD:1321823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081849 DACT2 dishevelled binding antagonist of beta catenin 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1321823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 12081858 SLPI secretory leukocyte peptidase inhibitor gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1350976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 12081858 SLPI secretory leukocyte peptidase inhibitor gene DOID:11612 polycystic ovary syndrome ISO RGD:621768 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:21910062|REF_RGD_ID:9999396 12081858 SLPI secretory leukocyte peptidase inhibitor gene DOID:2234 focal epilepsy ISO RGD:1350976 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12081858 SLPI secretory leukocyte peptidase inhibitor gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1350976 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 12081858 SLPI secretory leukocyte peptidase inhibitor gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:621768 D RGD:9068941 20200609 RGD PMID:18375249|REF_RGD_ID:9999419 12081858 SLPI secretory leukocyte peptidase inhibitor gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:621768 D RGD:9068941 20200609 RGD PMID:14500739|REF_RGD_ID:9999390 12081858 SLPI secretory leukocyte peptidase inhibitor gene DOID:4692 endophthalmitis ISO RGD:621768 D RGD:9068941 20200609 RGD associated with Staphylococcal Infections;protein:increased expression:cornea, retina, vitreous humor PMID:18274645|REF_RGD_ID:9999421 12081858 SLPI secretory leukocyte peptidase inhibitor gene DOID:5844 myocardial infarction treatment ISO RGD:621768 D RGD:9068941 20200609 RGD PMID:23361363|REF_RGD_ID:9999400 12081858 SLPI secretory leukocyte peptidase inhibitor gene DOID:630 genetic disease ISO RGD:1350976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081858 SLPI secretory leukocyte peptidase inhibitor gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12081858 SLPI secretory leukocyte peptidase inhibitor gene DOID:9000656 Penetrating Wounds ISO RGD:621768 D RGD:9068941 20200609 RGD PMID:22020578|REF_RGD_ID:9999424 12081858 SLPI secretory leukocyte peptidase inhibitor gene DOID:9002159 Liver Reperfusion Injury ISO RGD:621768 D RGD:9068941 20200609 RGD PMID:19595018|REF_RGD_ID:2314952 12081858 SLPI secretory leukocyte peptidase inhibitor gene DOID:9002457 Experimental Arthritis ISO RGD:621768 D RGD:9068941 20200609 RGD protein:decreased expression:articular cartilage of joint PMID:9744360|REF_RGD_ID:9999431 12081858 SLPI secretory leukocyte peptidase inhibitor gene DOID:9002457 Experimental Arthritis treatment ISO RGD:621768 D RGD:9068941 20200609 RGD PMID:10449524|REF_RGD_ID:634208 12081858 SLPI secretory leukocyte peptidase inhibitor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1551752 D RGD:9068941 20200609 RGD PMID:22436018|REF_RGD_ID:9999395 12081858 SLPI secretory leukocyte peptidase inhibitor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:621768 D RGD:9068941 20200609 RGD PMID:22436018|REF_RGD_ID:9999395 12081858 SLPI secretory leukocyte peptidase inhibitor gene DOID:9004009 Reperfusion Injury ISO RGD:1350976 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8215636 12081858 SLPI secretory leukocyte peptidase inhibitor gene DOID:9004610 Acute Lung Injury severity ISO RGD:621768 D RGD:9068941 20200609 RGD PMID:10092827|REF_RGD_ID:9999422 12081858 SLPI secretory leukocyte peptidase inhibitor gene DOID:9004610 Acute Lung Injury treatment ISO RGD:621768 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:25466948|REF_RGD_ID:9999425 12081858 SLPI secretory leukocyte peptidase inhibitor gene DOID:9005930 Endotoxemia ISO RGD:621768 D RGD:9068941 20200609 RGD PMID:25466948|REF_RGD_ID:9999425 12081858 SLPI secretory leukocyte peptidase inhibitor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17984051 12081858 SLPI secretory leukocyte peptidase inhibitor gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 12081870 OR13L2 olfactory receptor family 13 subfamily L member 2 gene DOID:11372 megacolon ISO RGD:1348304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12081870 OR13L2 olfactory receptor family 13 subfamily L member 2 gene DOID:630 genetic disease ISO RGD:1348304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081873 LOC100683783 double homeobox protein 4C-like gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:8663052 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:27019113 12081873 LOC100683783 double homeobox protein 4C-like gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:8663052 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:22796148 12081873 LOC100683783 double homeobox protein 4C-like gene DOID:2229 factor XI deficiency ISO RGD:8663052 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:34355501 12081873 LOC100683783 double homeobox protein 4C-like gene DOID:9952 acute lymphoblastic leukemia ISO RGD:8663052 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:27776115 12081874 AGPAT5 1-acylglycerol-3-phosphate O-acyltransferase 5 gene DOID:630 genetic disease ISO RGD:1347516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081874 AGPAT5 1-acylglycerol-3-phosphate O-acyltransferase 5 gene DOID:9000058 Keloid ISO RGD:1347516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keloid formation PMID:28905881 12081892 KRTAP13-2 keratin associated protein 13-2 gene DOID:630 genetic disease ISO RGD:1322358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12081912 NPHP3 nephrocystin 3 gene DOID:0050777 Joubert syndrome ISO RGD:1342817 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:18371931|PMID:19303681|PMID:23559409|PMID:25741868|PMID:26184788|PMID:28492532|PMID:28921755|PMID:32040628|PMID:32173348|PMID:33323469|PMID:34031707 12081912 NPHP3 nephrocystin 3 gene DOID:0050777 Joubert syndrome ISO RGD:1342817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:18371931|PMID:19303681|PMID:23559409|PMID:25741868|PMID:26184788|PMID:28492532|PMID:28921755|PMID:31131822|PMID:32040628|PMID:32173348|PMID:33323469|PMID:34031707 12081912 NPHP3 nephrocystin 3 gene DOID:0050778 Meckel syndrome ISO RGD:1342817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868|PMID:28492532 12081912 NPHP3 nephrocystin 3 gene DOID:0070121 Meckel syndrome 7 ISO RGD:1342817 D RGD:7240710 20180130 OMIM 12081912 NPHP3 nephrocystin 3 gene DOID:0070121 Meckel syndrome 7 ISO RGD:1342817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia | ClinVar Annotator: match by term: Meckel syndrome type 7 PMID:12872122|PMID:17576681|PMID:17855640|PMID:18371931|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28921755|PMID:28973083|PMID:30002499|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098 12081912 NPHP3 nephrocystin 3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1342817 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:26184788|PMID:28492532 12081912 NPHP3 nephrocystin 3 gene DOID:0080322 polycystic kidney disease ISO RGD:1342817 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:18371931|PMID:20007846|PMID:23559409|PMID:25741868|PMID:26673778|PMID:27894351|PMID:28492532|PMID:28921755|PMID:28973083|PMID:30002499|PMID:31980526|PMID:32055034|PMID:32552793|PMID:33532864 12081912 NPHP3 nephrocystin 3 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1342817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12089381 12081912 NPHP3 nephrocystin 3 gene DOID:0111112 nephronophthisis 1 ISO RGD:1342817 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18371931|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28973083|PMID:31980526|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098 12081912 NPHP3 nephrocystin 3 gene DOID:0111112 nephronophthisis 1 ISO RGD:1342817 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis PMID:12872122|PMID:17576681|PMID:17855640|PMID:18371931|PMID:19303681|PMID:20007846|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28921755|PMID:28973083|PMID:31980526|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098 12081912 NPHP3 nephrocystin 3 gene DOID:0111112 nephronophthisis 1 ISO RGD:1342817 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis PMID:12872122|PMID:17576681|PMID:17855640|PMID:18371931|PMID:19303681|PMID:20007846|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28921755|PMID:28973083|PMID:30002499|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098 12081912 NPHP3 nephrocystin 3 gene DOID:0111112 nephronophthisis 1 ISO RGD:1342817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis PMID:12872122|PMID:17576681|PMID:17855640|PMID:18371931|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28921755|PMID:28973083|PMID:30002499|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098 12081912 NPHP3 nephrocystin 3 gene DOID:0111114 nephronophthisis 3 ISO RGD:1342817 D RGD:7240710 20180130 OMIM 12081912 NPHP3 nephrocystin 3 gene DOID:0111114 nephronophthisis 3 ISO RGD:1342817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adolescent nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 3 PMID:12872122|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27491411|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28921755|PMID:28973083|PMID:29801666|PMID:30002499|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32502767|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34212438|PMID:9536098 12081912 NPHP3 nephrocystin 3 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1342817 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:25741868|PMID:28492532 12081912 NPHP3 nephrocystin 3 gene DOID:10763 hypertension ISO RGD:1342817 D RGD:9068941 20230107 RGD associated with nephronophthisis; PMID:19177160|REF_RGD_ID:155791686 12081912 NPHP3 nephrocystin 3 gene DOID:12215 oligohydramnios ISO RGD:1342817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: anhydramnios PMID:25741868|PMID:35005812 12081912 NPHP3 nephrocystin 3 gene DOID:12712 nephronophthisis ISO RGD:1342817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:23686967|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28973083|PMID:28991257|PMID:29801666|PMID:30002499|PMID:33532864|PMID:9536098 12081912 NPHP3 nephrocystin 3 gene DOID:12712 nephronophthisis ISO RGD:1342817 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28973083|PMID:28991257|PMID:31980526|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098 12081912 NPHP3 nephrocystin 3 gene DOID:12712 nephronophthisis ISO RGD:1342817 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28921755|PMID:28973083|PMID:28991257|PMID:31980526|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098 12081912 NPHP3 nephrocystin 3 gene DOID:12712 nephronophthisis ISO RGD:1342817 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28921755|PMID:28973083|PMID:28991257|PMID:31980526|PMID:32055034|PMID:32173348|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34031707|PMID:9536098 12081912 NPHP3 nephrocystin 3 gene DOID:12712 nephronophthisis ISO RGD:1342817 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28921755|PMID:28973083|PMID:28991257|PMID:30002499|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32173348|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34031707|PMID:9536098 12081912 NPHP3 nephrocystin 3 gene DOID:12712 nephronophthisis ISO RGD:1342817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:23686967|PMID:24033266|PMID:24776604|PMID:25356970|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27491411|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28891274|PMID:28921755|PMID:28973083|PMID:29801666|PMID:30002499|PMID:31131822|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32173348|PMID:32502767|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34013113|PMID:34031707|PMID:34212438|PMID:9536098 12081912 NPHP3 nephrocystin 3 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1342817 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:25741868|PMID:28492532 12081912 NPHP3 nephrocystin 3 gene DOID:14791 Leber congenital amaurosis ISO RGD:1342817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 12081912 NPHP3 nephrocystin 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1342817 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 12081912 NPHP3 nephrocystin 3 gene DOID:2975 cystic kidney disease ISO RGD:1556941 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.I614S (mouse) PMID:18371931|REF_RGD_ID:11352488 12081912 NPHP3 nephrocystin 3 gene DOID:557 kidney disease ISO RGD:1342817 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:17855640|PMID:24033266|PMID:25741868|PMID:28492532 12081912 NPHP3 nephrocystin 3 gene DOID:630 genetic disease ISO RGD:1342817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356970|PMID:25741868|PMID:28492532 12081912 NPHP3 nephrocystin 3 gene DOID:758 situs inversus ISO RGD:1556941 D RGD:9068941 20200609 RGD PMID:18371931|REF_RGD_ID:11352488 12081912 NPHP3 nephrocystin 3 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1556941 D RGD:9068941 20220825 MouseDO 12081912 NPHP3 nephrocystin 3 gene DOID:9001991 Renal-Hepatic-Pancreatic Dysplasia 1 ISO RGD:1342817 D RGD:7240710 20180130 OMIM 12081912 NPHP3 nephrocystin 3 gene DOID:9001991 Renal-Hepatic-Pancreatic Dysplasia 1 ISO RGD:1342817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1 PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28921755|PMID:28973083|PMID:30002499|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32173348|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34031707|PMID:34212438|PMID:8874114|PMID:9536098 12081912 NPHP3 nephrocystin 3 gene DOID:9006205 Animal Disease Models ISO RGD:1342817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12089381 12081912 NPHP3 nephrocystin 3 gene DOID:9007653 Multiple Abnormalities ISO RGD:1342817 D RGD:9068941 20200609 RGD DNA:missense mutation, nonsense mutations, splice-site mutations:multiple PMID:18371931|REF_RGD_ID:11352488 12081912 NPHP3 nephrocystin 3 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1342817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12081912 NPHP3 nephrocystin 3 gene DOID:9270 alkaptonuria ISO RGD:1342817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12081979 MIR200C microRNA mir-200c gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1353057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12081979 MIR200C microRNA mir-200c gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1353057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12081979 MIR200C microRNA mir-200c gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1353057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12081979 MIR200C microRNA mir-200c gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1353057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12081979 MIR200C microRNA mir-200c gene DOID:0111621 Temtamy syndrome ISO RGD:1353057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12081979 MIR200C microRNA mir-200c gene DOID:1686 glaucoma treatment ISO RGD:2325553 D RGD:9068941 20230202 RGD PMID:23272142|REF_RGD_ID:155882562 12081979 MIR200C microRNA mir-200c gene DOID:3770 pulmonary fibrosis ISO RGD:1353057 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:25926378|PMID:29113749 12081979 MIR200C microRNA mir-200c gene DOID:4989 pancreatitis ISO RGD:1353057 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12081979 MIR200C microRNA mir-200c gene DOID:9000096 Lung Agenesis ISO RGD:1353057 D RGD:9068941 20210813 CTD CTD Direct Evidence: marker/mechanism PMID:33048239 12081979 MIR200C microRNA mir-200c gene DOID:9000117 Esophageal Neoplasms ISO RGD:1353057 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21248297 12081979 MIR200C microRNA mir-200c gene DOID:9000918 Disease Progression ISO RGD:1353057 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19839049 12081979 MIR200C microRNA mir-200c gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1353057 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 12081979 MIR200C microRNA mir-200c gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1353057 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19839049 12081979 MIR200C microRNA mir-200c gene DOID:9006618 Liver Metastasis ISO RGD:1353057 D RGD:9068941 20200609 RGD associated with colorectal cancer;RNA:increased expression:liver: PMID:28617555|REF_RGD_ID:14928321 12081979 MIR200C microRNA mir-200c gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353057 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12081979 MIR200C microRNA mir-200c gene DOID:9007715 Endometrial Neoplasms ISO RGD:1353057 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22569286 12081979 MIR200C microRNA mir-200c gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1353057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12081979 MIR200C microRNA mir-200c gene DOID:9008939 Breast Neoplasms ISO RGD:1353057 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19839049|PMID:20099276 12081979 MIR200C microRNA mir-200c gene DOID:9256 colorectal cancer treatment ISO RGD:1353057 D RGD:9068941 20200609 RGD PMID:25205654|REF_RGD_ID:13217416 12082012 KBTBD13 kelch repeat and BTB domain containing 13 gene DOID:0110935 nemaline myopathy 6 ISO RGD:3130125 D RGD:7240710 20180130 OMIM 12082012 KBTBD13 kelch repeat and BTB domain containing 13 gene DOID:0110935 nemaline myopathy 6 ISO RGD:3130125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:18414213|PMID:21104864|PMID:21109227|PMID:21681106|PMID:24525055|PMID:25741868|PMID:26467025|PMID:27074222|PMID:28492532|PMID:29382405|PMID:30208948|PMID:31127727|PMID:31167812|PMID:31475037|PMID:31671076|PMID:31828823|PMID:33693846 12082012 KBTBD13 kelch repeat and BTB domain containing 13 gene DOID:2717 Bloom syndrome ISO RGD:3130125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12082012 KBTBD13 kelch repeat and BTB domain containing 13 gene DOID:3191 nemaline myopathy ISO RGD:3130125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Dominant PMID:25741868 12082012 KBTBD13 kelch repeat and BTB domain containing 13 gene DOID:630 genetic disease ISO RGD:3130125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12082012 KBTBD13 kelch repeat and BTB domain containing 13 gene DOID:9256 colorectal cancer ISO RGD:3130125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12082032 SEC61B SEC61 translocon subunit beta gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1312761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 12082032 SEC61B SEC61 translocon subunit beta gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1312761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 12082032 SEC61B SEC61 translocon subunit beta gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1312761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 12082032 SEC61B SEC61 translocon subunit beta gene DOID:1059 intellectual disability ISO RGD:1312761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12082032 SEC61B SEC61 translocon subunit beta gene DOID:12712 nephronophthisis ISO RGD:1312761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 12082032 SEC61B SEC61 translocon subunit beta gene DOID:14004 thoracic aortic aneurysm ISO RGD:1312761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 12082032 SEC61B SEC61 translocon subunit beta gene DOID:630 genetic disease ISO RGD:1312761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082040 NT5E 5'-nucleotidase ecto gene DOID:0111582 hereditary arterial and articular multiple calcification syndrome ISO RGD:734028 D RGD:7240710 20180130 OMIM 12082040 NT5E 5'-nucleotidase ecto gene DOID:0111582 hereditary arterial and articular multiple calcification syndrome ISO RGD:734028 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome PMID:21288095|PMID:24887587|PMID:25741868|PMID:28492532 12082040 NT5E 5'-nucleotidase ecto gene DOID:1824 status epilepticus ISO RGD:61956 D RGD:9068941 20200609 RGD protein:increased activity:cerebral cortex, synaptosome (rat) PMID:16274951|REF_RGD_ID:5134344 12082040 NT5E 5'-nucleotidase ecto gene DOID:630 genetic disease ISO RGD:734028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082040 NT5E 5'-nucleotidase ecto gene DOID:769 neuroblastoma ISO RGD:734028 D RGD:9068941 20221006 CTD CTD Direct Evidence: therapeutic PMID:34773529 12082040 NT5E 5'-nucleotidase ecto gene DOID:9000217 Stomach Neoplasms ISO RGD:734028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12082040 NT5E 5'-nucleotidase ecto gene DOID:9000918 Disease Progression ISO RGD:734028 D RGD:9068941 20221006 CTD CTD Direct Evidence: therapeutic PMID:34773529 12082040 NT5E 5'-nucleotidase ecto gene DOID:9000998 Brain Injuries ISO RGD:61956 D RGD:9068941 20200609 RGD protein:altered expression:cerebral cortex (rat) PMID:21337375|REF_RGD_ID:5134348 12082040 NT5E 5'-nucleotidase ecto gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18263696 12082040 NT5E 5'-nucleotidase ecto gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61956 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, synaptosome (rat) PMID:19723569|REF_RGD_ID:5134343 12082040 NT5E 5'-nucleotidase ecto gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:734028 D RGD:9068941 20221006 CTD CTD Direct Evidence: therapeutic PMID:34773529 12082052 NCALD neurocalcin delta gene DOID:0080600 COVID-19 ISO RGD:1348281 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12082052 NCALD neurocalcin delta gene DOID:0111590 Cohen syndrome ISO RGD:1348281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12082052 NCALD neurocalcin delta gene DOID:630 genetic disease ISO RGD:1348281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0060538 purpura fulminans ISO RGD:737321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18376272 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0060903 thrombosis ISO RGD:737321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11132655|PMID:18376272|PMID:8967151|PMID:9164807 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0060903 thrombosis treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:8073406|REF_RGD_ID:11250413 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:737321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:28492532 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0111220 centronuclear myopathy 2 ISO RGD:737321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0111902 thrombophilia due to activated protein C resistance ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:25196808|REF_RGD_ID:11099994 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency ISO RGD:737321 D RGD:7240710 20180130 OMIM 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency ISO RGD:737321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal recessive PMID:10669160|PMID:10805275|PMID:10942114|PMID:11336399|PMID:1301954|PMID:1301959|PMID:1347608|PMID:1347706|PMID:1348046|PMID:14642106|PMID:1464619|PMID:1498334|PMID:1511988|PMID:1511989|PMID:1593215|PMID:1678832|PMID:17152060|PMID:17649706|PMID:1771629|PMID:18573519|PMID:1868249|PMID:18954896|PMID:19535131|PMID:20815936|PMID:21621249|PMID:21744130|PMID:21901152|PMID:22627591|PMID:24051141|PMID:24103874|PMID:24162787|PMID:24782131|PMID:24796542|PMID:24911457|PMID:25393254|PMID:25637381|PMID:25648792|PMID:25741868|PMID:25748729|PMID:2602169|PMID:27172833|PMID:27517348|PMID:28111891|PMID:28492532|PMID:28607330|PMID:31064749|PMID:31254973|PMID:3185623|PMID:31980526|PMID:34355501|PMID:7482420|PMID:7605880|PMID:7670104|PMID:7740502|PMID:7792728|PMID:7795150|PMID:8128429|PMID:8136274|PMID:8165644|PMID:8324221|PMID:8446940|PMID:8477066|PMID:8499565|PMID:8499568|PMID:8505327|PMID:8807339|PMID:8845458|PMID:8883262|PMID:9798967 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:737321 D RGD:7240710 20180613 OMIM 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:737321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:10669160|PMID:10805275|PMID:10942114|PMID:11336399|PMID:11380450|PMID:1301954|PMID:1301959|PMID:1347608|PMID:14642106|PMID:1464619|PMID:1469096|PMID:1498334|PMID:1511988|PMID:1511989|PMID:1593215|PMID:16199547|PMID:16867987|PMID:17152060|PMID:17576681|PMID:17635713|PMID:17649706|PMID:1771629|PMID:18573519|PMID:1868249|PMID:18954896|PMID:19535131|PMID:20815936|PMID:21621249|PMID:21744130|PMID:21901152|PMID:22353194|PMID:22425321|PMID:22545135|PMID:22576310|PMID:22627591|PMID:22817391|PMID:22944127|PMID:22951146|PMID:23174622|PMID:23332921|PMID:23389250|PMID:24028705|PMID:24051141|PMID:24103874|PMID:24122877|PMID:24162787|PMID:24300144|PMID:2437584|PMID:24782131|PMID:24911457|PMID:25039884|PMID:25393254|PMID:25525159|PMID:25533856|PMID:25637381|PMID:25648792|PMID:25712501|PMID:25741868|PMID:25748729|PMID:2602169|PMID:26250584|PMID:27081530|PMID:27172833|PMID:27517348|PMID:2783855|PMID:27838551|PMID:27995882|PMID:28111891|PMID:28174134|PMID:28468828|PMID:28492532|PMID:28607330|PMID:29356699|PMID:29536478|PMID:2991887|PMID:30439769|PMID:30632992|PMID:31064749|PMID:31254973|PMID:3185623|PMID:31980526|PMID:32717757|PMID:34355501|PMID:6589623|PMID:7482420|PMID:7605880|PMID:7670104|PMID:7740502|PMID:7792728|PMID:7795150|PMID:7831652|PMID:7841324|PMID:7865674|PMID:7881411|PMID:7894031|PMID:7913773|PMID:7951255|PMID:8093743|PMID:8128429|PMID:8136274|PMID:8165644|PMID:8218861|PMID:8292730|PMID:8324221|PMID:8400292|PMID:8446940|PMID:8462980|PMID:8477066|PMID:8499565|PMID:8499568|PMID:8505327|PMID:8639775|PMID:8704244|PMID:8807339|PMID:8845458|PMID:8883262|PMID:8972002|PMID:9536098|PMID:9553065|PMID:9683579|PMID:9798967|PMID:9840027 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:10159 osteonecrosis ISO RGD:737321 D RGD:9068941 20200625 RGD associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) PMID:16547717|PMID:16677567|REF_RGD_ID:30309948|REF_RGD_ID:30309951 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:10591 pre-eclampsia ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:9065198|REF_RGD_ID:11564336 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:10763 hypertension ISO RGD:737321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:10936861|REF_RGD_ID:11100014 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:11247 disseminated intravascular coagulation ISO RGD:11161 D RGD:9068941 20200609 RGD PMID:9788960|REF_RGD_ID:11099993 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:11247 disseminated intravascular coagulation ISO RGD:737321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18376272 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:10936861|REF_RGD_ID:11100014 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:1247 blood coagulation disease ISO RGD:11161 D RGD:9068941 20200609 RGD PMID:19333141|REF_RGD_ID:11100017 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:14115 toxic shock syndrome ISO RGD:11161 D RGD:9068941 20200609 RGD PMID:19320827|REF_RGD_ID:11100015 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:14115 toxic shock syndrome treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:21850534|REF_RGD_ID:11100041 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:1969 cerebral palsy ISO RGD:737321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:1347706|PMID:24796542|PMID:25741868|PMID:31064749 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:2450 central retinal vein occlusion treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:20688738|REF_RGD_ID:11100028 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:2452 thrombophilia ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:7881411|REF_RGD_ID:1581278 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:2452 thrombophilia ISO RGD:737321 D RGD:9068941 20200609 RGD DNA:nonsense mutation, missense mutation:cds:p.R306X, p.W402C (human) PMID:2437584|REF_RGD_ID:1578514 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:2452 thrombophilia ISO RGD:737321 D RGD:9068941 20200609 RGD associated with Infertility, Female PMID:24189967|REF_RGD_ID:11099991 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:2841 asthma treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:26381519|REF_RGD_ID:11099992 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:2988 antiphospholipid syndrome ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:25196808|REF_RGD_ID:11099994 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:3021 acute kidney failure treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:19092124|REF_RGD_ID:11250410 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:11161 D RGD:9068941 20200609 RGD PMID:24159062|REF_RGD_ID:11100027 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:3526 cerebral infarction ISO RGD:737321 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:33761690 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:3756 protein C deficiency ISO RGD:737321 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.A259T (8490G>A) (human) PMID:11434940|REF_RGD_ID:11099984 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:3756 protein C deficiency ISO RGD:737321 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R87H (3203G>A) (human) PMID:8845458|REF_RGD_ID:11099985 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:3756 protein C deficiency ISO RGD:737321 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L223F, p.I403M (human) PMID:8128429|REF_RGD_ID:1578392 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:3756 protein C deficiency ISO RGD:737321 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14707701|PMID:18376272|PMID:21445774|PMID:33761690 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:5844 myocardial infarction ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:10936861|REF_RGD_ID:11100014 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:630 genetic disease ISO RGD:737321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18954896|PMID:21621249|PMID:25712501|PMID:25741868|PMID:27081530|PMID:28111891|PMID:28492532|PMID:8218861 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:10903607|REF_RGD_ID:11100044 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9002159 Liver Reperfusion Injury ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:12605111|REF_RGD_ID:11100021 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:18507760|REF_RGD_ID:11100046 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9002564 Arteritis ISO RGD:737321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17139375 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9002910 Hearing Loss, Noise-Induced treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:25108045|REF_RGD_ID:11100045 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9003121 Thromboembolism ISO RGD:737321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thromboembolism PMID:1868249|PMID:22627591|PMID:25741868|PMID:28492532|PMID:31064749|PMID:8093743 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9003505 Venous Thromboembolism ISO RGD:737321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21445774|PMID:9149031 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9003505 Venous Thromboembolism ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:11434940|PMID:24162787|REF_RGD_ID:11099984|REF_RGD_ID:11099988 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9003871 Venous Thrombosis ISO RGD:737321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:17152060|PMID:1868249|PMID:25741868|PMID:28492532|PMID:31064749|PMID:31254973|PMID:32717757|PMID:34355501|PMID:7482420|PMID:8128429|PMID:8499565|PMID:8845458 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9004484 Sepsis ISO RGD:737321 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11820775|PMID:17556722 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9004484 Sepsis disease_progression ISO RGD:3411 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver, plasma PMID:15241104|REF_RGD_ID:11250412 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9004484 Sepsis treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:22940033|REF_RGD_ID:11100029 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9004610 Acute Lung Injury treatment ISO RGD:737321 D RGD:9068941 20200609 RGD associated with Intestinal Reperfusion Injury PMID:18367148|REF_RGD_ID:11250405 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9004610 Acute Lung Injury treatment ISO RGD:737321 D RGD:9068941 20200609 RGD associated with Pseudomonas Infections PMID:16553944|REF_RGD_ID:11100043 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9004649 Heat Stroke treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:16715032|REF_RGD_ID:11250411 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9005930 Endotoxemia treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:18205901|PMID:23170801|REF_RGD_ID:11100030|REF_RGD_ID:11100034 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9006363 Congenital Thrombotic Disease, due to Protein C Deficiency ISO RGD:737321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Reduced protein C activity PMID:10805275|PMID:10942114|PMID:1301954|PMID:1301959|PMID:1511988|PMID:1511989|PMID:17152060|PMID:18573519|PMID:1868249|PMID:18954896|PMID:21621249|PMID:22545135|PMID:22817391|PMID:22944127|PMID:23332921|PMID:23389250|PMID:24028705|PMID:24162787|PMID:25637381|PMID:25741868|PMID:2602169|PMID:28111891|PMID:28492532|PMID:31064749|PMID:31254973|PMID:3185623|PMID:31980526|PMID:32717757|PMID:34355501|PMID:6589623|PMID:7482420|PMID:7605880|PMID:7670104|PMID:7792728|PMID:8128429|PMID:8165644|PMID:8292730|PMID:8462980|PMID:8499565|PMID:8704244|PMID:8807339|PMID:9798967 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:19782612|REF_RGD_ID:11100035 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9007456 Female Infertility ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:24189967|REF_RGD_ID:11099991 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:19680809|REF_RGD_ID:11100040 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:15187522|REF_RGD_ID:11250409 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9477 pulmonary embolism ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:10936861|REF_RGD_ID:11100014 12082073 PROC protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9667 placental abruption susceptibility ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:9855597|REF_RGD_ID:11564329 12082100 NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1601767 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:19463981|PMID:24033266|PMID:25741868 12082100 NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:0080600 COVID-19 ISO RGD:1601767 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12082100 NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:0112070 nuclear type mitochondrial complex I deficiency 18 ISO RGD:1601767 D RGD:7240710 20190315 OMIM 12082100 NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:0112070 nuclear type mitochondrial complex I deficiency 18 ISO RGD:1601767 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 PMID:19463981|PMID:25741868|PMID:27986404|PMID:28492532|PMID:34656053 12082100 NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1601767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 12082100 NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:630 genetic disease ISO RGD:1601767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:34656053 12082100 NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1601767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12082100 NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1601767 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12082115 ADHFE1 alcohol dehydrogenase iron containing 1 gene DOID:630 genetic disease ISO RGD:1318880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082115 ADHFE1 alcohol dehydrogenase iron containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12082140 VWA5B1 von Willebrand factor A domain containing 5B1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1606163 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12082140 VWA5B1 von Willebrand factor A domain containing 5B1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1606163 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12082140 VWA5B1 von Willebrand factor A domain containing 5B1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1606163 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12082140 VWA5B1 von Willebrand factor A domain containing 5B1 gene DOID:630 genetic disease ISO RGD:1606163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082140 VWA5B1 von Willebrand factor A domain containing 5B1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1606163 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12082166 PCNP PEST proteolytic signal containing nuclear protein gene DOID:630 genetic disease ISO RGD:1603975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082175 ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B gene DOID:630 genetic disease ISO RGD:1602104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12082175 ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B gene DOID:893 Wilson disease ISO RGD:1602104 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 12082214 TBRG4 transforming growth factor beta regulator 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12082214 TBRG4 transforming growth factor beta regulator 4 gene DOID:630 genetic disease ISO RGD:1320236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082215 MAN1A2 mannosidase alpha class 1A member 2 gene DOID:630 genetic disease ISO RGD:1320278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082243 SLC25A45 solute carrier family 25 member 45 gene DOID:1059 intellectual disability ISO RGD:1604185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12082243 SLC25A45 solute carrier family 25 member 45 gene DOID:1909 melanoma ISO RGD:1604185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12082243 SLC25A45 solute carrier family 25 member 45 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12082243 SLC25A45 solute carrier family 25 member 45 gene DOID:2746 glycogen storage disease V ISO RGD:1604185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12082243 SLC25A45 solute carrier family 25 member 45 gene DOID:3070 high grade glioma ISO RGD:1604185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12082243 SLC25A45 solute carrier family 25 member 45 gene DOID:630 genetic disease ISO RGD:1604185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082243 SLC25A45 solute carrier family 25 member 45 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1604185 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12082243 SLC25A45 solute carrier family 25 member 45 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12082261 CHRM1 cholinergic receptor muscarinic 1 gene DOID:0050214 Lambert-Eaton myasthenic syndrome ISO RGD:731068 D RGD:9068941 20200609 RGD PMID:17764462|REF_RGD_ID:5133415 12082261 CHRM1 cholinergic receptor muscarinic 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:731068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12082261 CHRM1 cholinergic receptor muscarinic 1 gene DOID:1059 intellectual disability ISO RGD:731068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12082261 CHRM1 cholinergic receptor muscarinic 1 gene DOID:1826 epilepsy ISO RGD:731068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18333967 12082261 CHRM1 cholinergic receptor muscarinic 1 gene DOID:2316 brain ischemia ISO RGD:731068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18501976 12082261 CHRM1 cholinergic receptor muscarinic 1 gene DOID:2841 asthma ISO RGD:731068 D RGD:9068941 20200609 RGD PMID:16931638|REF_RGD_ID:5133416 12082261 CHRM1 cholinergic receptor muscarinic 1 gene DOID:437 myasthenia gravis ISO RGD:731068 D RGD:9068941 20200609 RGD PMID:17764462|REF_RGD_ID:5133415 12082261 CHRM1 cholinergic receptor muscarinic 1 gene DOID:630 genetic disease ISO RGD:731068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082261 CHRM1 cholinergic receptor muscarinic 1 gene DOID:9006836 Contracture ISO RGD:731068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures PMID:25741868 12082261 CHRM1 cholinergic receptor muscarinic 1 gene DOID:9008023 Memory Disorders ISO RGD:731068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21682298 12082261 CHRM1 cholinergic receptor muscarinic 1 gene DOID:9008023 Memory Disorders ISO RGD:731069 D RGD:9068941 20200609 RGD PMID:12483218|REF_RGD_ID:734777 12082270 SPAG4 sperm associated antigen 4 gene DOID:630 genetic disease ISO RGD:734255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082309 ESAM endothelial cell adhesion molecule gene DOID:0110877 holoprosencephaly 11 ISO RGD:1348841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12082309 ESAM endothelial cell adhesion molecule gene DOID:0111723 Jacobsen Syndrome ISO RGD:1348841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12082309 ESAM endothelial cell adhesion molecule gene DOID:5419 schizophrenia ISO RGD:1348841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12082309 ESAM endothelial cell adhesion molecule gene DOID:630 genetic disease ISO RGD:1348841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082309 ESAM endothelial cell adhesion molecule gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12082309 ESAM endothelial cell adhesion molecule gene DOID:9007661 Dwarfism ISO RGD:1348841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12082325 BCO1 beta-carotene oxygenase 1 gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1346552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 12082325 BCO1 beta-carotene oxygenase 1 gene DOID:630 genetic disease ISO RGD:1346552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082325 BCO1 beta-carotene oxygenase 1 gene DOID:9001798 Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant ISO RGD:1346552 D RGD:7240710 20180130 OMIM 12082325 BCO1 beta-carotene oxygenase 1 gene DOID:9001798 Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant ISO RGD:1346552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercarotenemia and vitamin a deficiency, autosomal dominant PMID:17951468|PMID:5453458 12082345 POP7 POP7 homolog, ribonuclease P/MRP subunit gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12082345 POP7 POP7 homolog, ribonuclease P/MRP subunit gene DOID:630 genetic disease ISO RGD:1315010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082361 TTYH3 tweety family member 3 gene DOID:0111957 immunodeficiency 11A ISO RGD:1319948 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency PMID:28492532 12082361 TTYH3 tweety family member 3 gene DOID:630 genetic disease ISO RGD:1319948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082378 OR11I1 olfactory receptor family 11 subfamily I member 1 gene DOID:11372 megacolon ISO RGD:1346770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12082378 OR11I1 olfactory receptor family 11 subfamily I member 1 gene DOID:630 genetic disease ISO RGD:1346770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082382 MKLN1 muskelin 1 gene DOID:2722 acrodermatitis IAGP D RGD:12801476 20210603 OMIA Acrodermatitis, lethal PMID:2402865|PMID:9256960|PMID:17693109|PMID:14592736|PMID:11440398|PMID:11105789|PMID:10563006|PMID:8981276|PMID:3710872|PMID:29565995 12082382 MKLN1 muskelin 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12082382 MKLN1 muskelin 1 gene DOID:630 genetic disease ISO RGD:734391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082404 TMEM255B transmembrane protein 255B gene DOID:2222 factor X deficiency ISO RGD:1602045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12082404 TMEM255B transmembrane protein 255B gene DOID:630 genetic disease ISO RGD:1602045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082418 UBE2K ubiquitin conjugating enzyme E2 K gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1323181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 12082437 SLC51B solute carrier family 51 subunit beta gene DOID:0110935 nemaline myopathy 6 ISO RGD:1604245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055|PMID:28492532 12082437 SLC51B solute carrier family 51 subunit beta gene DOID:12236 primary biliary cholangitis ISO RGD:1604245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16423920 12082437 SLC51B solute carrier family 51 subunit beta gene DOID:13250 diarrhea ISO RGD:1604245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diarrhea PMID:25741868|PMID:28898457 12082437 SLC51B solute carrier family 51 subunit beta gene DOID:13580 cholestasis ISO RGD:1604245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16423920|PMID:22461449 12082437 SLC51B solute carrier family 51 subunit beta gene DOID:1561 cognitive disorder ISO RGD:1604245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 12082437 SLC51B solute carrier family 51 subunit beta gene DOID:2717 Bloom syndrome ISO RGD:1604245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12082437 SLC51B solute carrier family 51 subunit beta gene DOID:630 genetic disease ISO RGD:1604245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12082437 SLC51B solute carrier family 51 subunit beta gene DOID:9002010 Primary Bile Acid Malabsorption 2 ISO RGD:1604245 D RGD:7240710 20210825 OMIM 12082437 SLC51B solute carrier family 51 subunit beta gene DOID:9002010 Primary Bile Acid Malabsorption 2 ISO RGD:1604245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bile acid malabsorption, primary, 2 PMID:25741868|PMID:28898457 12082437 SLC51B solute carrier family 51 subunit beta gene DOID:9002661 Diabetes Complications ISO RGD:1604245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 12082437 SLC51B solute carrier family 51 subunit beta gene DOID:9256 colorectal cancer ISO RGD:1604245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12082452 NEIL1 nei like DNA glycosylase 1 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1314485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 12082452 NEIL1 nei like DNA glycosylase 1 gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:1314486 D RGD:9068941 20220825 MouseDO 12082452 NEIL1 nei like DNA glycosylase 1 gene DOID:10603 glucose intolerance ISO RGD:1314485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21285402 12082452 NEIL1 nei like DNA glycosylase 1 gene DOID:1168 familial hyperlipidemia ISO RGD:1314485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21285402 12082452 NEIL1 nei like DNA glycosylase 1 gene DOID:1826 epilepsy ISO RGD:1314485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12082452 NEIL1 nei like DNA glycosylase 1 gene DOID:2018 hyperinsulinism ISO RGD:1314485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16446448 12082452 NEIL1 nei like DNA glycosylase 1 gene DOID:2717 Bloom syndrome ISO RGD:1314485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12082452 NEIL1 nei like DNA glycosylase 1 gene DOID:5419 schizophrenia ISO RGD:1314485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12082452 NEIL1 nei like DNA glycosylase 1 gene DOID:630 genetic disease ISO RGD:1314485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082452 NEIL1 nei like DNA glycosylase 1 gene DOID:9001812 CONGENITAL DISORDER OF DEGLYCOSYLATION 2 ISO RGD:1314485 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Congenital disorder of deglycosylation 2 PMID:25741868|PMID:35045343 12082452 NEIL1 nei like DNA glycosylase 1 gene DOID:9003370 Dyslipidemias ISO RGD:1314485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16446448 12082452 NEIL1 nei like DNA glycosylase 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:1314485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16446448|PMID:17389588 12082452 NEIL1 nei like DNA glycosylase 1 gene DOID:9007692 Insulin Resistance ISO RGD:1314485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21285402 12082452 NEIL1 nei like DNA glycosylase 1 gene DOID:9256 colorectal cancer ISO RGD:1314485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12082452 NEIL1 nei like DNA glycosylase 1 gene DOID:9452 fatty liver disease ISO RGD:1314485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16446448|PMID:21285402 12082452 NEIL1 nei like DNA glycosylase 1 gene DOID:9970 obesity ISO RGD:1314485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16446448|PMID:21285402 12082452 NEIL1 nei like DNA glycosylase 1 gene DOID:9970 obesity ISO RGD:1314486 D RGD:9068941 20220825 MouseDO OMIM:601665 12082480 NSG2 neuronal vesicle trafficking associated 2 gene DOID:630 genetic disease ISO RGD:1602121 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082496 LIG1 DNA ligase 1 gene DOID:11054 urinary bladder cancer ISO RGD:731763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8631603 12082496 LIG1 DNA ligase 1 gene DOID:612 primary immunodeficiency disease ISO RGD:731763 D RGD:9068941 20200609 RGD DNA ligase I deficiency PMID:1351188|REF_RGD_ID:1600089 12082496 LIG1 DNA ligase 1 gene DOID:630 genetic disease ISO RGD:731763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12082496 LIG1 DNA ligase 1 gene DOID:655 inherited metabolic disorder ISO RGD:731763 D RGD:9068941 20200609 RGD DNA ligase I deficiency PMID:1351188|REF_RGD_ID:1600089 12082496 LIG1 DNA ligase 1 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:621424 D RGD:9068941 20200609 RGD PMID:30813600|REF_RGD_ID:14995940 12082496 LIG1 DNA ligase 1 gene DOID:9000296 Immunodeficiency 96 ISO RGD:731763 D RGD:7240710 20220316 OMIM 12082496 LIG1 DNA ligase 1 gene DOID:9000296 Immunodeficiency 96 ISO RGD:731763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 96 PMID:1581963|PMID:17576681|PMID:19223467|PMID:25741868|PMID:28492532|PMID:30395541|PMID:32888943|PMID:32914844|PMID:33444456|PMID:33600799|PMID:9536098 12082545 EDDM3B epididymal protein 3B gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1344731 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12082545 EDDM3B epididymal protein 3B gene DOID:630 genetic disease ISO RGD:1344731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082545 EDDM3B epididymal protein 3B gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1344731 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12082548 KIF17 kinesin family member 17 gene DOID:0060041 autism spectrum disorder ISO RGD:1344438 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12082548 KIF17 kinesin family member 17 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1344438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12082548 KIF17 kinesin family member 17 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1344438 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12082548 KIF17 kinesin family member 17 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1344438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12082548 KIF17 kinesin family member 17 gene DOID:630 genetic disease ISO RGD:1344438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082548 KIF17 kinesin family member 17 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1344438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12082585 NPTX2 neuronal pentraxin 2 gene DOID:0060001 withdrawal disorder ISO RGD:1319794 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19084905 12082585 NPTX2 neuronal pentraxin 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12082585 NPTX2 neuronal pentraxin 2 gene DOID:630 genetic disease ISO RGD:1319794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082594 ORC1 origin recognition complex subunit 1 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1350406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:11477602|PMID:14564153|PMID:21358631|PMID:21358632|PMID:21358633|PMID:22333897|PMID:22855792|PMID:23023959|PMID:23516378|PMID:24033266|PMID:25689043|PMID:25741868|PMID:28492532|PMID:819054 12082594 ORC1 origin recognition complex subunit 1 gene DOID:0080512 Meier-Gorlin syndrome 1 ISO RGD:1350406 D RGD:7240710 20190424 OMIM 12082594 ORC1 origin recognition complex subunit 1 gene DOID:0080512 Meier-Gorlin syndrome 1 ISO RGD:1350406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 PMID:11477602|PMID:14564153|PMID:18414213|PMID:21358631|PMID:21358632|PMID:21358633|PMID:22333897|PMID:22689986|PMID:22855792|PMID:23023959|PMID:23516378|PMID:24033266|PMID:25689043|PMID:25741868|PMID:28112645|PMID:28492532|PMID:31274184|PMID:33482836|PMID:819054 12082594 ORC1 origin recognition complex subunit 1 gene DOID:0080600 COVID-19 ISO RGD:1350406 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12082594 ORC1 origin recognition complex subunit 1 gene DOID:10907 microcephaly ISO RGD:1350406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21358633 12082594 ORC1 origin recognition complex subunit 1 gene DOID:630 genetic disease ISO RGD:1350406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12082594 ORC1 origin recognition complex subunit 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1350406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12082594 ORC1 origin recognition complex subunit 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1350406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21358633 12082594 ORC1 origin recognition complex subunit 1 gene DOID:9007661 Dwarfism ISO RGD:1350406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21358633 12082623 TTC32 tetratricopeptide repeat domain 32 gene DOID:630 genetic disease ISO RGD:1605580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082636 MIR33A microRNA mir-33a gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1348329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12082636 MIR33A microRNA mir-33a gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1348329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 12082639 MIR365-2 microRNA mir-365-2 gene DOID:2043 hepatitis B ISO RGD:2290202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12082727 LRIF1 ligand dependent nuclear receptor interacting factor 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1603986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12082727 LRIF1 ligand dependent nuclear receptor interacting factor 1 gene DOID:12849 autistic disorder ISO RGD:1603986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12082727 LRIF1 ligand dependent nuclear receptor interacting factor 1 gene DOID:630 genetic disease ISO RGD:1603986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082727 LRIF1 ligand dependent nuclear receptor interacting factor 1 gene DOID:9005731 Facioscapulohumeral Muscular Dystrophy 3 ISO RGD:1603986 D RGD:7240710 20210825 OMIM 12082727 LRIF1 ligand dependent nuclear receptor interacting factor 1 gene DOID:9005731 Facioscapulohumeral Muscular Dystrophy 3 ISO RGD:1603986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 3, digenic PMID:32467133 12082738 SNAI1 snail family transcriptional repressor 1 gene DOID:0050827 rheumatic heart disease ISO RGD:620758 D RGD:9068941 20230202 RGD mRNA, protein:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 12082738 SNAI1 snail family transcriptional repressor 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1347076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12082738 SNAI1 snail family transcriptional repressor 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1553692 D RGD:9068941 20220825 MouseDO 12082738 SNAI1 snail family transcriptional repressor 1 gene DOID:13580 cholestasis ISO RGD:1347076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 12082738 SNAI1 snail family transcriptional repressor 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1347076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12082738 SNAI1 snail family transcriptional repressor 1 gene DOID:4159 skin cancer ISO RGD:1553692 D RGD:9068941 20220825 MouseDO 12082738 SNAI1 snail family transcriptional repressor 1 gene DOID:5199 ureteral obstruction ISO RGD:1347076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 12082738 SNAI1 snail family transcriptional repressor 1 gene DOID:630 genetic disease ISO RGD:1347076 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082738 SNAI1 snail family transcriptional repressor 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1347076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12082738 SNAI1 snail family transcriptional repressor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22580338|PMID:23219715 12082738 SNAI1 snail family transcriptional repressor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1347076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22580338|PMID:24014025 12082738 SNAI1 snail family transcriptional repressor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1347076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 12082738 SNAI1 snail family transcriptional repressor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1347076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11850205|PMID:24014025 12082738 SNAI1 snail family transcriptional repressor 1 gene DOID:9256 colorectal cancer treatment ISO RGD:1347076 D RGD:9068941 20220728 RGD Human cells in mouse model PMID:32682784|REF_RGD_ID:153297782 12082738 SNAI1 snail family transcriptional repressor 1 gene DOID:9655 oral mucosa leukoplakia disease_progression ISO RGD:1347076 D RGD:9068941 20220210 RGD PMID:28939076|REF_RGD_ID:151356661 12082743 ATP6V0A2 ATPase H+ transporting V0 subunit a2 gene DOID:0050777 Joubert syndrome ISO RGD:1320849 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 12082743 ATP6V0A2 ATPase H+ transporting V0 subunit a2 gene DOID:0050778 Meckel syndrome ISO RGD:1320849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868 12082743 ATP6V0A2 ATPase H+ transporting V0 subunit a2 gene DOID:0070122 Meckel syndrome 8 ISO RGD:1320849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 8 PMID:25741868|PMID:28492532 12082743 ATP6V0A2 ATPase H+ transporting V0 subunit a2 gene DOID:0070134 autosomal recessive cutis laxa type IIA ISO RGD:1320849 D RGD:7240710 20180130 OMIM 12082743 ATP6V0A2 ATPase H+ transporting V0 subunit a2 gene DOID:0070134 autosomal recessive cutis laxa type IIA ISO RGD:1320849 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cutis laxa with osteodystrophy PMID:15657616|PMID:18157129|PMID:20301755|PMID:22773132|PMID:24815019|PMID:25741868|PMID:26467025|PMID:28492532 12082743 ATP6V0A2 ATPase H+ transporting V0 subunit a2 gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:1320849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:16199547|PMID:17576681|PMID:18157129|PMID:19321599|PMID:23806237|PMID:23963297|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 12082743 ATP6V0A2 ATPase H+ transporting V0 subunit a2 gene DOID:0110993 Joubert syndrome 24 ISO RGD:1320849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 24 PMID:25741868|PMID:28492532 12082743 ATP6V0A2 ATPase H+ transporting V0 subunit a2 gene DOID:0112171 wrinkly skin syndrome ISO RGD:1320849 D RGD:7240710 20180130 OMIM 12082743 ATP6V0A2 ATPase H+ transporting V0 subunit a2 gene DOID:0112171 wrinkly skin syndrome ISO RGD:1320849 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Wrinkly skin syndrome PMID:18157129|PMID:20301755|PMID:25741868|PMID:28492532 12082743 ATP6V0A2 ATPase H+ transporting V0 subunit a2 gene DOID:3144 cutis laxa ISO RGD:1320849 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:18157129|PMID:19321599|PMID:28492532 12082743 ATP6V0A2 ATPase H+ transporting V0 subunit a2 gene DOID:630 genetic disease ISO RGD:1320849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12082743 ATP6V0A2 ATPase H+ transporting V0 subunit a2 gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:1320849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, recessive PMID:25741868|PMID:26467025|PMID:28492532 12082767 TMEM240 transmembrane protein 240 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12082767 TMEM240 transmembrane protein 240 gene DOID:0050972 spinocerebellar ataxia type 21 ISO RGD:1603247 D RGD:7240710 20180130 OMIM 12082767 TMEM240 transmembrane protein 240 gene DOID:0050972 spinocerebellar ataxia type 21 ISO RGD:1603247 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 21 PMID:11160961|PMID:25070513|PMID:25741868|PMID:28492532|PMID:30522958|PMID:33851480 12082767 TMEM240 transmembrane protein 240 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603247 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12082767 TMEM240 transmembrane protein 240 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1603247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12082767 TMEM240 transmembrane protein 240 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1603247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12082767 TMEM240 transmembrane protein 240 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1603247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12082767 TMEM240 transmembrane protein 240 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12082767 TMEM240 transmembrane protein 240 gene DOID:0111934 immunodeficiency 38 ISO RGD:1603247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12082767 TMEM240 transmembrane protein 240 gene DOID:0111935 immunodeficiency 16 ISO RGD:1603247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12082767 TMEM240 transmembrane protein 240 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12082767 TMEM240 transmembrane protein 240 gene DOID:630 genetic disease ISO RGD:1603247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30522958 12082767 TMEM240 transmembrane protein 240 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25070513|PMID:25741868|PMID:28492532 12082767 TMEM240 transmembrane protein 240 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1603247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12082767 TMEM240 transmembrane protein 240 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12082780 BICRAL BICRA like chromatin remodeling complex associated protein gene DOID:0050444 infantile Refsum disease ISO RGD:1313851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12082780 BICRAL BICRA like chromatin remodeling complex associated protein gene DOID:0060041 autism spectrum disorder ISO RGD:1313851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12082780 BICRAL BICRA like chromatin remodeling complex associated protein gene DOID:10283 prostate cancer ISO RGD:1313851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12082780 BICRAL BICRA like chromatin remodeling complex associated protein gene DOID:630 genetic disease ISO RGD:1313851 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082780 BICRAL BICRA like chromatin remodeling complex associated protein gene DOID:905 Zellweger syndrome ISO RGD:1313851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12082809 NT5C3A 5'-nucleotidase, cytosolic IIIA gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16380913|PMID:20177705|PMID:28492532 12082809 NT5C3A 5'-nucleotidase, cytosolic IIIA gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:1323774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16672222 12082809 NT5C3A 5'-nucleotidase, cytosolic IIIA gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12082809 NT5C3A 5'-nucleotidase, cytosolic IIIA gene DOID:630 genetic disease ISO RGD:1323774 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12082809 NT5C3A 5'-nucleotidase, cytosolic IIIA gene DOID:9001341 Chloracne ISO RGD:1323774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12082809 NT5C3A 5'-nucleotidase, cytosolic IIIA gene DOID:9004820 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to ISO RGD:1323774 D RGD:7240710 20180130 OMIM 12082809 NT5C3A 5'-nucleotidase, cytosolic IIIA gene DOID:9004820 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to ISO RGD:1323774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: UMPH1 DEFICIENCY | ClinVar Annotator: match by term: Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to PMID:11369620|PMID:12714505|PMID:12930399|PMID:15238149|PMID:25741868|PMID:28492532|PMID:6310729 12082829 NAP1L1 nucleosome assembly protein 1 like 1 gene DOID:11240 appendiceal neoplasm severity ISO RGD:737279 D RGD:9068941 20200609 RGD mRNA:increased expression:appendix, mucosa (human) PMID:16794389|REF_RGD_ID:9590083 12082829 NAP1L1 nucleosome assembly protein 1 like 1 gene DOID:1793 pancreatic cancer ISO RGD:737279 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:25071868|REF_RGD_ID:9590074 12082829 NAP1L1 nucleosome assembly protein 1 like 1 gene DOID:630 genetic disease ISO RGD:737279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082829 NAP1L1 nucleosome assembly protein 1 like 1 gene DOID:687 hepatoblastoma ISO RGD:737279 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:12935928|REF_RGD_ID:9590075 12082829 NAP1L1 nucleosome assembly protein 1 like 1 gene DOID:9002669 Hypoxia ISO RGD:71094 D RGD:9068941 20200609 RGD protein:decreased dimerization:hippocampus (rat) PMID:24893663|REF_RGD_ID:9590077 12082829 NAP1L1 nucleosome assembly protein 1 like 1 gene DOID:9004109 Intestinal Carcinoid Tumors ISO RGD:737279 D RGD:9068941 20200609 RGD mRNA:increased expression:intestinal mucosa (human) PMID:16424981|REF_RGD_ID:9590082 12082829 NAP1L1 nucleosome assembly protein 1 like 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737279 D RGD:9068941 20200609 RGD mRNA:increased expression:colon (human) PMID:12384809|REF_RGD_ID:9590076 12082871 LOC475708 STAGA complex 65 subunit gamma gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1602227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12082871 LOC475708 STAGA complex 65 subunit gamma gene DOID:630 genetic disease ISO RGD:1602227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082903 MORN2 MORN repeat containing 2 gene DOID:0080690 RASopathy ISO RGD:2303892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12082903 MORN2 MORN repeat containing 2 gene DOID:3883 Lynch syndrome ISO RGD:2303892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12082903 MORN2 MORN repeat containing 2 gene DOID:630 genetic disease ISO RGD:2303892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082903 MORN2 MORN repeat containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2303892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12082912 REXO1 RNA exonuclease 1 homolog gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1320447 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12082912 REXO1 RNA exonuclease 1 homolog gene DOID:11612 polycystic ovary syndrome ISO RGD:1320447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12082912 REXO1 RNA exonuclease 1 homolog gene DOID:5339 cyclic hematopoiesis ISO RGD:1320447 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12082912 REXO1 RNA exonuclease 1 homolog gene DOID:630 genetic disease ISO RGD:1320447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082912 REXO1 RNA exonuclease 1 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12082943 ZNF445 zinc finger protein 445 gene DOID:630 genetic disease ISO RGD:1349162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:733483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0050589 inflammatory bowel disease ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C (human) PMID:17111197|REF_RGD_ID:10449410 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0050745 diffuse large B-cell lymphoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human) PMID:17712558|REF_RGD_ID:6893517 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0050830 peripheral artery disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:transition:cds:g.677C>T (human) PMID:16274479|REF_RGD_ID:6893659 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0050864 non-arteritic anterior ischemic optic neuropathy susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :677C>T(human) PMID:20162297|REF_RGD_ID:8693343 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:677C>T (human) PMID:16365753|REF_RGD_ID:10449416 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0050873 follicular lymphoma ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16410450 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0060041 autism spectrum disorder ISO RGD:733483 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0060058 lymphoma ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16799656 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17488658 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0060326 myelomeningocele ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16602021 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:733483 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0060770 dextro-looped transposition of the great arteries susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: : rs1801133(human) PMID:22868813|REF_RGD_ID:11565105 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0060903 thrombosis no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:10780318|REF_RGD_ID:10449414 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0070004 myeloid neoplasm ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T, 1298A>C (human) PMID:23107469|REF_RGD_ID:10449419 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0080016 spina bifida ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27713094 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0080016 spina bifida no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :677C>T(human) PMID:15022402|REF_RGD_ID:11565178 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0080016 spina bifida severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :677C>T(human) PMID:12797455|REF_RGD_ID:11565104 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0080016 spina bifida susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:10791559|REF_RGD_ID:6893455 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0080074 neural tube defect ISO RGD:733483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:25736335|PMID:25741868 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0080074 neural tube defect susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :677C>T(human) PMID:8826441|REF_RGD_ID:11565102 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0080177 hepatic veno-occlusive disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) PMID:24583625|REF_RGD_ID:14696752 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0080178 mucositis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17488658 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A > C (human) PMID:24488901|REF_RGD_ID:14696706 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) PMID:17563923|REF_RGD_ID:14696748 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:733483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 PMID:28492532 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0081267 graft-versus-host disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16518429 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0081267 graft-versus-host disease treatment ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:19005482|REF_RGD_ID:6893635 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:733483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: THROMBOPHILIA DUE TO FACTOR 2 DEFECT | ClinVar Annotator: match by term: Thrombophilia due to thrombin defect PMID:10196703|PMID:10323741|PMID:10440833|PMID:10679944|PMID:10732818|PMID:10869114|PMID:10923034|PMID:10930360|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11710708|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12796225|PMID:12915598|PMID:15048559|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:16172608|PMID:16199547|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:19810817|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25079578|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25736335|PMID:25741868|PMID:25778468|PMID:26025547|PMID:26872964|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27743313|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28696419|PMID:29246599|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:33089527|PMID:34214447|PMID:7564788|PMID:7647779|PMID:7726158|PMID:7741859|PMID:7920641|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:0111907 thrombophilia due to thrombin defect susceptibility ISO RGD:733483 D RGD:7240710 20230505 OMIM 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:10024 migraine with aura susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP:cds:677C>T(human) PMID:21635773|REF_RGD_ID:7387244 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:10159 osteonecrosis no_association ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:SNP: :677C>T (human) PMID:9840906|REF_RGD_ID:10449417 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:10283 prostate cancer ISO RGD:733483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:10534 stomach cancer no_association ISO RGD:733483 D RGD:9068941 20200814 RGD DNA:missense mutation:cds:g.677C>T (human) PMID:23183616|PMID:24615072|REF_RGD_ID:38501052|REF_RGD_ID:38501056 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:10548 cardia cancer no_association ISO RGD:733483 D RGD:9068941 20200813 RGD associated with stomach cancer;DNA:missense mutation:cds:g.677C>T (human) PMID:24615072|REF_RGD_ID:38501052 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:1059 intellectual disability ISO RGD:733483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:12733064|PMID:25736335|PMID:25741868|PMID:28492532|PMID:7726158 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:10652 Alzheimer's disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:1067 open-angle glaucoma no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: : 677C>T, 1298A>C (human) PMID:17558844|REF_RGD_ID:7387254 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:15808177|REF_RGD_ID:7387252 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:1074 kidney failure ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:20433440|REF_RGD_ID:6893515 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP:cds:rs1801133(human) PMID:22065928|REF_RGD_ID:7387224 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:10923 sickle cell anemia no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C (human) PMID:22924497|REF_RGD_ID:10449403 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:10923 sickle cell anemia no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:20113291|REF_RGD_ID:10449420 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:10923 sickle cell anemia severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:22924497|REF_RGD_ID:10449403 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C,677C>T(human) PMID:21819229|REF_RGD_ID:11565109 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:1094 attention deficit hyperactivity disorder susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :1298A>C(human) PMID:21897766|REF_RGD_ID:11565107 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:11054 urinary bladder cancer ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22747749 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:11054 urinary bladder cancer no_association ISO RGD:733483 D RGD:9068941 20200609 RGD protein:missense mutation:cds:p.A222V (human) PMID:17311259|REF_RGD_ID:6893597 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human) PMID:20146887|REF_RGD_ID:6893516 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:22126575|REF_RGD_ID:6893457 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transversion:cds:g.1298A>C (human) PMID:19837268|REF_RGD_ID:6893521 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:11166 papillomavirus infectious disease no_association ISO RGD:733483 D RGD:9068941 20200814 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:23444906|REF_RGD_ID:38501058 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:11512 Budd-Chiari syndrome ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition: :677C>T (human) PMID:12221667|REF_RGD_ID:10449395 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:11512 Budd-Chiari syndrome susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) PMID:26238013|REF_RGD_ID:11537993 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:11664 nephrosclerosis ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:21613384|REF_RGD_ID:6893469 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:11695 portal vein thrombosis susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:25987440|PMID:27221722|REF_RGD_ID:14696705|REF_RGD_ID:14696749 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:11713 diabetic angiopathy ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16681562 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:11836 clubfoot ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16936070 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:1205 allergic disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16766537 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:12134 factor VIII deficiency no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C (human) PMID:22411997|REF_RGD_ID:10449409 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:12134 factor VIII deficiency severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:22411997|REF_RGD_ID:10449409 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:1227 neutropenia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19391036 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:12336 male infertility ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16861746 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:12336 male infertility susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :677C>T(human) PMID:16247718|REF_RGD_ID:11565106 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:12361 Graves' disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP:cds:677C>T(human) PMID:20941748|REF_RGD_ID:7387246 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:12849 autistic disorder ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19267885 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:1287 cardiovascular system disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16958597|PMID:25050994 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:1287 cardiovascular system disease ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:12187094|REF_RGD_ID:1580585 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:13001 carotid stenosis ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP:CDS:rs1801133, c.677C>T, p.A222V, in men only PMID:15748240|REF_RGD_ID:5509914 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:13550 angle-closure glaucoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T,1298A>C(human) PMID:19936026|REF_RGD_ID:7387250 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:14018 alcoholic liver cirrhosis susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:25987440|REF_RGD_ID:14696749 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:14250 Down syndrome ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16353284|PMID:16489479|PMID:16845273|PMID:17431899 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:14250 Down syndrome susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs:cds:c.677C>T,c.1298A>C (human) PMID:16489479|REF_RGD_ID:11565177 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:14330 Parkinson's disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30726997 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:1459 hypothyroidism ISO RGD:1309952 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:7990714|REF_RGD_ID:6893690 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:1588 thrombocytopenia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19391036 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:1588 thrombocytopenia ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :1298A>C (human) PMID:23498762|REF_RGD_ID:10449418 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:1588 thrombocytopenia no_association ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :677C>T, 1793G>A (human) PMID:23498762|REF_RGD_ID:10449418 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:1596 depressive disorder ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17074966 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:1682 congenital heart disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16524890 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:1727 retinal vein occlusion no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C(human) PMID:23289804|REF_RGD_ID:10449405 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:1727 retinal vein occlusion no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:677C>T (human) PMID:24250697|REF_RGD_ID:10449421 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:1727 retinal vein occlusion susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:10485556|REF_RGD_ID:7387256 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:1749 squamous cell carcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:17627246|REF_RGD_ID:6893580 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:178 vascular disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19646848 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:1793 pancreatic cancer susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :677C>T (human) PMID:16737574|REF_RGD_ID:2317120 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:1936 atherosclerosis severity ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; DNA:transversion:cds:g.1298A>C (human) PMID:17899317|REF_RGD_ID:6893579 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:1984 rectal benign neoplasm severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:21865946|REF_RGD_ID:6893664 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:2043 hepatitis B no_association ISO RGD:733483 D RGD:9068941 20200820 RGD DNA:missense mutations:cds:g.1298A>C, g.2756A>G PMID:18222012|REF_RGD_ID:38508898 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:2043 hepatitis B susceptibility ISO RGD:733483 D RGD:9068941 20200820 RGD DNA:transition:cds:g.677C>T (human) PMID:18222012|REF_RGD_ID:38508898 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:2154 nephroblastoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:19346876|REF_RGD_ID:6893546 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:2316 brain ischemia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15534175 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:2355 anemia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19391036|PMID:25007187 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:2355 anemia susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma; DNA:SNP:: rs1801133(human) PMID:25007187|REF_RGD_ID:11080979 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:2388 renal artery disease ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:16760910|REF_RGD_ID:2313876 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:2452 thrombophilia ISO RGD:733483 D RGD:9068941 20200730 CTD CTD Direct Evidence: marker/mechanism PMID:17493413 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:2452 thrombophilia ISO RGD:733483 D RGD:9068941 20200730 RGD associated with Liver Cirrhosis, Biliary;DNA:SNP: :677C>T (human) PMID:16570355|REF_RGD_ID:10449396 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:2671 transitional cell carcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transversion:cds:g.1298A>C (human) PMID:21046286|REF_RGD_ID:6893477 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:2841 asthma ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:20456312|REF_RGD_ID:4891145 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:2921 glomerulonephritis ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:22111818|REF_RGD_ID:6893468 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:2987 familial Mediterranean fever susceptibility ISO RGD:733483 D RGD:9068941 20200813 RGD DNA:missense mutations:cds:g.677C>T (rs1801133), g.1298A>C (rs1801131) (human) PMID:28543752|REF_RGD_ID:38501050 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:3021 acute kidney failure ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17387702 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:319 spinal cord disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16361298 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:326 ischemia susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Retinal Vein Occlusion;DNA:SNP:cds:677C>T(human) PMID:17719079|REF_RGD_ID:7387251 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:3312 bipolar disorder ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17074966 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:332 amyotrophic lateral sclerosis no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.677C>T(human) PMID:21868135|REF_RGD_ID:11565173 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:332 amyotrophic lateral sclerosis susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.677C>T(human) PMID:21128869|REF_RGD_ID:11565111 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:3347 osteosarcoma treatment ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:19159907|REF_RGD_ID:6893634 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:3393 coronary artery disease no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:15648053|REF_RGD_ID:1580579 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:3393 coronary artery disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:12387655|REF_RGD_ID:6893453 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:3526 cerebral infarction ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:10929044|REF_RGD_ID:1580590 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:3572 intracranial sinus thrombosis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18941937 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:37 skin disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17548696 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:409 liver disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16877991 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:4247 coronary restenosis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16489563 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:4362 cervical cancer susceptibility ISO RGD:733483 D RGD:9068941 20200813 RGD DNA:missense mutation:cds:g.1298A>C (human) PMID:27771518|REF_RGD_ID:38501051 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A222V (rs1801133) (human) PMID:18098291|REF_RGD_ID:6893654 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:20039875|REF_RGD_ID:6893632 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:4467 clear cell renal cell carcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:21489764|REF_RGD_ID:6893474 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:4947 cholangiocarcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:17201138|REF_RGD_ID:2317119 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:5082 liver cirrhosis susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:25987440|REF_RGD_ID:14696749 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:5409 lung small cell carcinoma severity ISO RGD:733483 D RGD:9068941 20200609 RGD protein:missense mutation:cds:p.A222V (human) PMID:17533396|REF_RGD_ID:4891158 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:5419 schizophrenia ISO RGD:733483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SCHIZOPHRENIA WITH OR WITHOUT AN AFFECTIVE DISORDER | ClinVar Annotator: match by term: Schizophrenia | ClinVar Annotator: match by term: Schizophrenia, susceptibility to PMID:10677336|PMID:10679944|PMID:10923034|PMID:10958762|PMID:11590551|PMID:11742092|PMID:11752418|PMID:11938441|PMID:12560871|PMID:12673793|PMID:12733064|PMID:15048559|PMID:15103709|PMID:15543147|PMID:15951337|PMID:16199547|PMID:16244782|PMID:18523009|PMID:18583979|PMID:19810817|PMID:21778025|PMID:25079578|PMID:25227144|PMID:25736335|PMID:25741868|PMID:26025547|PMID:26872964|PMID:27743313|PMID:28492532|PMID:28514598|PMID:29246599|PMID:33089527|PMID:34214447|PMID:7726158|PMID:7920641|PMID:9545395 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:5419 schizophrenia susceptibility ISO RGD:733483 D RGD:7240710 20230505 OMIM 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:557 kidney disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18551038 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:5614 eye disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:SNP:cds:677C>T(human) PMID:16299146|REF_RGD_ID:7387241 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:5679 retinal disease ISO RGD:1551392 D RGD:9068941 20200609 RGD PMID:20532821|REF_RGD_ID:7387239 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:5844 myocardial infarction ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:10090925|REF_RGD_ID:10449412 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:5844 myocardial infarction susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; DNA:transition:cds:g.677C>T rs1801133 (human) PMID:19272686|REF_RGD_ID:6893548 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:61 mitral valve disease susceptibility ISO RGD:733483 D RGD:9068941 20210305 RGD associated with rheumatic heart disease;DNA:SNP:cds:677C>T (human) PMID:26813460|REF_RGD_ID:11537145 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:615 leukopenia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19648163 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:630 genetic disease ISO RGD:733483 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25736335|PMID:25741868|PMID:28492532 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:6364 migraine susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP:cds:677C>T(human) PMID:21635773|REF_RGD_ID:7387244 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:6419 tetralogy of Fallot susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: : rs1801133(human) PMID:22868813|REF_RGD_ID:11565105 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:23996892|REF_RGD_ID:14696704 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:684 hepatocellular carcinoma onset ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C(human) PMID:19035314|REF_RGD_ID:14696707 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :677C>T, 1298A>C(human) PMID:17503006|REF_RGD_ID:14696703 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T, 1298A>C(human) PMID:17659576|REF_RGD_ID:14696708 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:7147 ankylosing spondylitis susceptibility ISO RGD:733483 D RGD:9068941 20210305 RGD DNA:SNP:cds:677C>T (human) PMID:25060515|REF_RGD_ID:42722610 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:7148 rheumatoid arthritis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22104130 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:7148 rheumatoid arthritis ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:23685257|REF_RGD_ID:7387222 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:74 hematopoietic system disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19159907 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:7693 abdominal aortic aneurysm ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:17398378|REF_RGD_ID:6893584 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:77 gastrointestinal system disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19648163 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:733483 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:783 end stage renal disease ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:25664255|REF_RGD_ID:14696732 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:783 end stage renal disease no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:19520069|REF_RGD_ID:6893523 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:783 end stage renal disease severity ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human) PMID:14737040|REF_RGD_ID:6893524 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:783 end stage renal disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:19520684|REF_RGD_ID:6893522 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:783 end stage renal disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transitions, transversion, haplotype:cds:g.677C>T, g.1298A>C, g.1793G>A (human) PMID:17899317|REF_RGD_ID:6893579 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:784 chronic kidney disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:g.677C>T (human) PMID:23595572|REF_RGD_ID:7244284 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:7997 thyrotoxicosis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18941937 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:7998 hyperthyroidism ISO RGD:1309952 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:7990714|REF_RGD_ID:6893690 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:8029 sporadic breast cancer no_association ISO RGD:733483 D RGD:9068941 20200814 RGD DNA:missense mutations:cds:g.677C>T, g.1298A>T (human) PMID:28330681|REF_RGD_ID:38501055 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:83 cataract susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: : 677C>T, 1298A>C (human) PMID:16310481|REF_RGD_ID:7387253 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:8552 chronic myeloid leukemia ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T, 1298A>C(human) PMID:17156840|REF_RGD_ID:10449408 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:863 nervous system disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:8725 vascular dementia ISO RGD:733483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:8736 smallpox treatment ISO RGD:733483 D RGD:9068941 20210305 RGD DNA:SNP:exon:rs1801133(human) PMID:18454680|REF_RGD_ID:42722608 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:8778 Crohn's disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28002332 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human) PMID:9040583|REF_RGD_ID:6893525 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:733483 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:17303386 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9000027 Microsatellite Instability ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17350979 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9000217 Stomach Neoplasms ISO RGD:733483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Stomach Neoplasms PMID:10196703|PMID:10323741|PMID:10440833|PMID:10732818|PMID:10869114|PMID:10930360|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11710708|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:16172608|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9000326 Thrombotic Microangiopathies susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:19448163|REF_RGD_ID:6893633 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9000528 Coronary Disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16792904 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9000965 Neoplasm Metastasis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17704422 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9001542 Albuminuria susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:22554825|REF_RGD_ID:6893631 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency ISO RGD:733483 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency PMID:10196703|PMID:10323741|PMID:10440833|PMID:10551815|PMID:10677336|PMID:10679944|PMID:10732818|PMID:10767000|PMID:10869114|PMID:10923034|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12796225|PMID:12840091|PMID:12915598|PMID:15048559|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16199547|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17409006|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17576681|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:19810817|PMID:20154341|PMID:20356773|PMID:20472929|PMID:20490923|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21480888|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22887477|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24033266|PMID:24241962|PMID:24797679|PMID:24908438|PMID:24997712|PMID:25007187|PMID:25079578|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25736335|PMID:25741868|PMID:25778468|PMID:25856670|PMID:26025547|PMID:26872964|PMID:26898294|PMID:27104192|PMID:27118298|PMID:27217051|PMID:27399166|PMID:27743313|PMID:27768236|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29246599|PMID:29391032|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31068897|PMID:31870219|PMID:32230794|PMID:32451826|PMID:32612964|PMID:32695297|PMID:33089527|PMID:3347350|PMID:34015165|PMID:3580562|PMID:6381059|PMID:7564788|PMID:7647779|PMID:7726158|PMID:7741859|PMID:7920641|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8940272|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9536098|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9781030|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency ISO RGD:733483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency PMID:10196703|PMID:10323741|PMID:10440833|PMID:10551815|PMID:10677336|PMID:10679944|PMID:10732818|PMID:10767000|PMID:10869114|PMID:10923034|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12796225|PMID:12840091|PMID:12915598|PMID:15048559|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16199547|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17409006|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17576681|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18583979|PMID:18704422|PMID:18854913|PMID:19031955|PMID:19648163|PMID:19810817|PMID:20154341|PMID:20236116|PMID:20356773|PMID:20472929|PMID:20490923|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21131308|PMID:21387541|PMID:21480888|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22887477|PMID:22947400|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23526309|PMID:23648444|PMID:24033266|PMID:24241962|PMID:24726568|PMID:24797679|PMID:24908438|PMID:24997712|PMID:25007187|PMID:25024447|PMID:25079578|PMID:25110820|PMID:25162892|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25736335|PMID:25741868|PMID:25778468|PMID:25856670|PMID:26025547|PMID:26872964|PMID:26898294|PMID:27104192|PMID:27118298|PMID:27217051|PMID:27399166|PMID:27527345|PMID:27743313|PMID:27768236|PMID:27781293|PMID:27992285|PMID:28241805|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29246599|PMID:29391032|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31068897|PMID:31462756|PMID:31870219|PMID:32161077|PMID:32230794|PMID:32451826|PMID:32612964|PMID:32695297|PMID:32939339|PMID:33089527|PMID:3347350|PMID:34015165|PMID:34214447|PMID:3580562|PMID:6381059|PMID:7564788|PMID:7647779|PMID:7726158|PMID:7741859|PMID:7920641|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8940272|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9536098|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9781030|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency susceptibility ISO RGD:733483 D RGD:7240710 20230505 OMIM 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:733483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10679944|PMID:10732818|PMID:10869114|PMID:10923034|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12796225|PMID:12915598|PMID:15048559|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16199547|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:19810817|PMID:20154341|PMID:20356773|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25079578|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25736335|PMID:25741868|PMID:25778468|PMID:26025547|PMID:26872964|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27743313|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29246599|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:33089527|PMID:34214447|PMID:7564788|PMID:7647779|PMID:7726158|PMID:7741859|PMID:7920641|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9001989 Folate-Sensitive Neural Tube Defects susceptibility ISO RGD:733483 D RGD:7240710 20230505 OMIM 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human) PMID:18280442|REF_RGD_ID:6893576 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human) PMID:14737040|REF_RGD_ID:6893524 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16706930 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9002269 Mthfr Deficiency, Thermolabile Type ISO RGD:733483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: MTHFR deficiency, thermolabile type PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9002304 Prostatic Neoplasms ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17967524 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9002557 Inherited Blood Coagulation Disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17493413 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9002704 Leukoencephalopathies ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15753437 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9002775 Cognitive Dysfunction ISO RGD:733483 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mental deterioration PMID:25741868 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9002928 Colonic Neoplasms ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284371 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303386 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9003505 Venous Thromboembolism ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:25207100|REF_RGD_ID:10449399 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9003505 Venous Thromboembolism no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T, 1298A>C (human) PMID:25207100|REF_RGD_ID:10449399 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9003758 Banti's Syndrome susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) PMID:18685811|REF_RGD_ID:10755472 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9003817 Sudden Hearing Loss ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16275406 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9003817 Sudden Hearing Loss ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:20798492|REF_RGD_ID:7387236 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9003817 Sudden Hearing Loss no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP:cds:677C>T(human) PMID:16572609|REF_RGD_ID:7387240 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9003817 Sudden Hearing Loss susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs:cds:677C>T,1298A>C(human) PMID:15775757|REF_RGD_ID:7387243 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9003871 Venous Thrombosis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19123085 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9003871 Venous Thrombosis ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:10929044|REF_RGD_ID:1580590 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9003871 Venous Thrombosis no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition: :677C>T (human) PMID:12442281|REF_RGD_ID:10449394 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9003871 Venous Thrombosis no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:10792297|REF_RGD_ID:6893655 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic; DNA:transition, transversion:cds:g.677C>T rs1801133, g.1298A>C rs1801131 (human) PMID:22707612|REF_RGD_ID:6893602 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9004538 Hearing Loss susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP:cds:677C>T(human) PMID:21385350|REF_RGD_ID:7387225 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9004563 Maxillofacial Abnormalities ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16832597 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9004616 Left Ventricular Hypertrophy susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T, 1298A>C(human) PMID:25664255|REF_RGD_ID:14696732 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9005172 Lung Neoplasms ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17389614 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9005236 Drug Eruptions ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14723717 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309952 D RGD:9068941 20200609 RGD protein:decreased activity:kidney (rat) PMID:9836532|REF_RGD_ID:6893689 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9005695 Malnutrition ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16709328 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9005749 Necrosis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14723717 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9006262 Cytomegalovirus Infections ISO RGD:733483 D RGD:9068941 20210305 RGD PMID:19609317|REF_RGD_ID:42722609 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9006262 Cytomegalovirus Infections ameliorates ISO RGD:1551392 D RGD:9068941 20210305 RGD PMID:19609317|REF_RGD_ID:42722609 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9006332 Vascular Calcification severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:21394321|REF_RGD_ID:6893475 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:10477457|REF_RGD_ID:10449401 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9006532 Hematologic Neoplasms no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:21984221|REF_RGD_ID:10449413 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9006532 Hematologic Neoplasms treatment ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C (human) PMID:21984221|REF_RGD_ID:10449413 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15753437|PMID:16166815|PMID:17387702|PMID:17502830|PMID:18551038|PMID:19159907|PMID:19391036|PMID:19821069|PMID:21064136|PMID:25007187|PMID:26077125 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9007096 Stroke ISO RGD:733483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Stroke PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9007096 Stroke no_association ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:missense mutation:cds:677C>T (human) PMID:9840906|REF_RGD_ID:10449417 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18551038|PMID:19648163 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:733483 D RGD:9068941 20200609 RGD associated with precursor lymphoblastic lymphoma/leukemia; DNA:SNP: :677C>T(human) PMID:30545275|REF_RGD_ID:14696733 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9007456 Female Infertility ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16679164 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9007479 Habitual Abortions ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T, 1298A>C (human) PMID:22047507|PMID:22882325|REF_RGD_ID:10449404|REF_RGD_ID:10449415 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9007479 Habitual Abortions no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C (human) PMID:19906129|REF_RGD_ID:10449411 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:733483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9007617 Conotruncal Cardiac Defects no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs:cds:c.677C>T,c.1298A>C (human) PMID:12705333|REF_RGD_ID:11565174 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9007715 Endometrial Neoplasms ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17301261 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9007908 Aortic Coarctation ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:19764075|REF_RGD_ID:4891157 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9007964 Arsenic Poisoning ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24384392 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9008086 Developmental Disabilities ISO RGD:733483 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9008114 Helicobacter Infections susceptibility ISO RGD:733483 D RGD:9068941 20200814 RGD associated with stomach cancer;DNA:missense mutation:cds:g.677C>T (human) PMID:20957490|PMID:23183616|REF_RGD_ID:38501056|REF_RGD_ID:38501057 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9008443 Colorectal Neoplasms ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15608557|PMID:16512993|PMID:16985020|PMID:17047490|PMID:17087956|PMID:17245555|PMID:17350979|PMID:18676755|PMID:26858257 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9008887 Microvascular Angina ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17491230 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9008887 Microvascular Angina ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:17491230|REF_RGD_ID:4891159 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9008939 Breast Neoplasms ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16777985|PMID:17595805|PMID:28114181 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9119 acute myeloid leukemia ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T, 1298A>C(human) PMID:17156840|REF_RGD_ID:10449408 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:916 liver benign neoplasm onset ISO RGD:1309952 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:22213190|REF_RGD_ID:6893663 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Gastrointestinal stroma tumor PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9279 hyperhomocysteinemia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10459572|PMID:15226090|PMID:16317120|PMID:16397167|PMID:16411416|PMID:16575899|PMID:17387702|PMID:18234410|PMID:18551038|PMID:19204075|PMID:19646848 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9279 hyperhomocysteinemia ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutations:CDS:multiple (human) PMID:10679944|REF_RGD_ID:1601421 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms; DNA:SNP: :677C>T (human) PMID:12471611|REF_RGD_ID:10449400 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9296 cleft lip ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16470725 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9296 cleft lip susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.677C>T(human) PMID:27387868|REF_RGD_ID:11565179 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9351 diabetes mellitus no_association ISO RGD:733483 D RGD:9068941 20200813 RGD DNA:transition:cds:g.677C>T (human) PMID:9607212|REF_RGD_ID:38501049 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:19996639|REF_RGD_ID:6893653 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:16828193|REF_RGD_ID:6893657 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:21186995|REF_RGD_ID:6893476 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9406 hypopituitarism ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T, 1298A>C(human) PMID:21107737|REF_RGD_ID:10449406 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9452 fatty liver disease ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic; DNA:transition:cds:g.677C>T (human) PMID:15834927|REF_RGD_ID:1580580 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9477 pulmonary embolism ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19123085 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9538 multiple myeloma ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:677C>T, 1298A>C (human) PMID:24839819|REF_RGD_ID:10449397 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9663 aphthous stomatitis severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:677C>T (rs1801133) (human) PMID:23665953|REF_RGD_ID:10449402 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9744 type 1 diabetes mellitus severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transversion:cds:g.1298A>C (human) PMID:18774994|REF_RGD_ID:6893652 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9849 Meniere's disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T(rs1801133),1298A>C(1801131)(human) PMID:23484733|REF_RGD_ID:7387223 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:987 alopecia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18381794 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16706930 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human) PMID:19923983|REF_RGD_ID:10449398 12082966 MTHFR methylenetetrahydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:677C>T (human) PMID:21644011|REF_RGD_ID:10449407 12082998 ABCB6 ATP binding cassette subfamily B member 6 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:731735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12082998 ABCB6 ATP binding cassette subfamily B member 6 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:731735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12082998 ABCB6 ATP binding cassette subfamily B member 6 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:731735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12082998 ABCB6 ATP binding cassette subfamily B member 6 gene DOID:1148 polydactyly ISO RGD:731735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 12082998 ABCB6 ATP binding cassette subfamily B member 6 gene DOID:11612 polycystic ovary syndrome ISO RGD:731735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12082998 ABCB6 ATP binding cassette subfamily B member 6 gene DOID:12270 coloboma ISO RGD:731735 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ocular coloboma PMID:15142123|PMID:23180570|PMID:25741868|PMID:28492532|PMID:2998465 12082998 ABCB6 ATP binding cassette subfamily B member 6 gene DOID:13269 hereditary coproporphyria ISO RGD:731735 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CPO deficiency | ClinVar Annotator: match by term: Hereditary coproporphyria PMID:22958180|PMID:25741868|PMID:28492532 12082998 ABCB6 ATP binding cassette subfamily B member 6 gene DOID:13270 erythropoietic protoporphyria ISO RGD:731735 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ferrochelatase deficiency PMID:22958180|PMID:28492532 12082998 ABCB6 ATP binding cassette subfamily B member 6 gene DOID:3133 acute porphyria ISO RGD:731735 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acute Porphyria PMID:22958180|PMID:28492532 12082998 ABCB6 ATP binding cassette subfamily B member 6 gene DOID:3890 acute intermittent porphyria ISO RGD:731735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Hydroxymethylbilane Synthase Deficiency PMID:22958180|PMID:24281366|PMID:25741868|PMID:28492532 12082998 ABCB6 ATP binding cassette subfamily B member 6 gene DOID:4346 variegate porphyria ISO RGD:731735 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Variegate porphyria PMID:22958180|PMID:24281366|PMID:25741868|PMID:28492532 12082998 ABCB6 ATP binding cassette subfamily B member 6 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:731735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12082998 ABCB6 ATP binding cassette subfamily B member 6 gene DOID:630 genetic disease ISO RGD:731735 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12082998 ABCB6 ATP binding cassette subfamily B member 6 gene DOID:9002801 Recurrence ISO RGD:731735 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 12082998 ABCB6 ATP binding cassette subfamily B member 6 gene DOID:9002999 Isolated Microphthalmia with Coloboma 7 ISO RGD:731735 D RGD:7240710 20180130 OMIM 12082998 ABCB6 ATP binding cassette subfamily B member 6 gene DOID:9002999 Isolated Microphthalmia with Coloboma 7 ISO RGD:731735 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 7 PMID:15142123|PMID:19504436|PMID:22226084|PMID:23180570|PMID:24281366|PMID:25741868|PMID:28492532|PMID:2998465 12082998 ABCB6 ATP binding cassette subfamily B member 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12082998 ABCB6 ATP binding cassette subfamily B member 6 gene DOID:9004435 Erythropoietic Protoporphyria 1 ISO RGD:731735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 PMID:22958180|PMID:24281366|PMID:25741868|PMID:28492532 12082998 ABCB6 ATP binding cassette subfamily B member 6 gene DOID:9004547 Thyroid Neoplasms ISO RGD:731735 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 12082998 ABCB6 ATP binding cassette subfamily B member 6 gene DOID:9005794 Coproporphyria ISO RGD:731735 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Porphyria hepatica II PMID:22958180|PMID:28492532 12082998 ABCB6 ATP binding cassette subfamily B member 6 gene DOID:9006892 Dyschromatosis Universalis Hereditaria 3 ISO RGD:731735 D RGD:7240710 20180130 OMIM 12082998 ABCB6 ATP binding cassette subfamily B member 6 gene DOID:9006892 Dyschromatosis Universalis Hereditaria 3 ISO RGD:731735 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dyschromatosis universalis hereditaria 3 PMID:15142123|PMID:23180570|PMID:23519333|PMID:24224009|PMID:25741868|PMID:28492532|PMID:2998465 12082998 ABCB6 ATP binding cassette subfamily B member 6 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12082998 ABCB6 ATP binding cassette subfamily B member 6 gene DOID:9008560 Pseudohyperkalemia, Familial, 2, due to Red Cell Leak ISO RGD:731735 D RGD:7240710 20180130 OMIM 12082998 ABCB6 ATP binding cassette subfamily B member 6 gene DOID:9008560 Pseudohyperkalemia, Familial, 2, due to Red Cell Leak ISO RGD:731735 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CRYOHYDROCYTOSIS, MILD | ClinVar Annotator: match by term: Pseudohyperkalemia, familial, 2, due to red cell leak PMID:11918557|PMID:15142123|PMID:23180570|PMID:24947683|PMID:25741868|PMID:27151991|PMID:2766660|PMID:28492532|PMID:2998465|PMID:6123793 12083021 NUCKS1 nuclear casein kinase and cyclin dependent kinase substrate 1 gene DOID:0060224 atrial fibrillation ISO RGD:736162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12083021 NUCKS1 nuclear casein kinase and cyclin dependent kinase substrate 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:736162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12083021 NUCKS1 nuclear casein kinase and cyclin dependent kinase substrate 1 gene DOID:12849 autistic disorder ISO RGD:736162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12083021 NUCKS1 nuclear casein kinase and cyclin dependent kinase substrate 1 gene DOID:1540 parathyroid carcinoma ISO RGD:736162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12083021 NUCKS1 nuclear casein kinase and cyclin dependent kinase substrate 1 gene DOID:630 genetic disease ISO RGD:736162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12083021 NUCKS1 nuclear casein kinase and cyclin dependent kinase substrate 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736162 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12083021 NUCKS1 nuclear casein kinase and cyclin dependent kinase substrate 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12083031 FBXO31 F-box protein 31 gene DOID:0050669 spastic cerebral palsy ISO RGD:1351564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic cerebral palsy PMID:32989326|PMID:33675180 12083031 FBXO31 F-box protein 31 gene DOID:0070124 congenital nongoitrous hypothyroidism 2 ISO RGD:1351564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectopic thyroid PMID:32989326|PMID:33675180 12083031 FBXO31 F-box protein 31 gene DOID:0081209 autosomal recessive intellectual developmental disorder 45 ISO RGD:1351564 D RGD:7240710 20180130 OMIM 12083031 FBXO31 F-box protein 31 gene DOID:0081209 autosomal recessive intellectual developmental disorder 45 ISO RGD:1351564 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 45 PMID:25741868|PMID:32989326|PMID:33675180 12083031 FBXO31 F-box protein 31 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1351564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12083031 FBXO31 F-box protein 31 gene DOID:630 genetic disease ISO RGD:1351564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12083031 FBXO31 F-box protein 31 gene DOID:8433 thyroid malformation ISO RGD:1351564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectopic thyroid PMID:32989326|PMID:33675180 12083031 FBXO31 F-box protein 31 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1351564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12083046 FHOD3 formin homology 2 domain containing 3 gene DOID:0050700 cardiomyopathy ISO RGD:1314439 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:24088304|PMID:25741868|PMID:32335906 12083046 FHOD3 formin homology 2 domain containing 3 gene DOID:0110313 hypertrophic cardiomyopathy 7 ISO RGD:1314439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 PMID:30442288 12083046 FHOD3 formin homology 2 domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1314439 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12083046 FHOD3 formin homology 2 domain containing 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12083046 FHOD3 formin homology 2 domain containing 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314439 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24088304|PMID:25741868 12083046 FHOD3 formin homology 2 domain containing 3 gene DOID:303 substance-related disorder ISO RGD:1314439 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12083046 FHOD3 formin homology 2 domain containing 3 gene DOID:630 genetic disease ISO RGD:1314439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24088304|PMID:25741868 12083046 FHOD3 formin homology 2 domain containing 3 gene DOID:9005789 Hypertrophic Cardiomyopathy 28 ISO RGD:1314439 D RGD:7240710 20210707 OMIM 12083046 FHOD3 formin homology 2 domain containing 3 gene DOID:9005789 Hypertrophic Cardiomyopathy 28 ISO RGD:1314439 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 28 PMID:24088304|PMID:25741868|PMID:30442288|PMID:30898215|PMID:30898216|PMID:31742804|PMID:32335906|PMID:33586461 12083078 MID2 midline 2 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1602493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 12083078 MID2 midline 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12083078 MID2 midline 2 gene DOID:0070068 autosomal dominant intellectual developmental disorder 38 ISO RGD:1602493 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38 PMID:25741868 12083078 MID2 midline 2 gene DOID:0112048 non-syndromic X-linked intellectual disability 101 ISO RGD:1602493 D RGD:7240710 20180130 OMIM 12083078 MID2 midline 2 gene DOID:0112048 non-syndromic X-linked intellectual disability 101 ISO RGD:1602493 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked 101 PMID:24115387|PMID:25741868 12083078 MID2 midline 2 gene DOID:10485 esophageal atresia ISO RGD:1602493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12083078 MID2 midline 2 gene DOID:12849 autistic disorder ISO RGD:1602493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12083078 MID2 midline 2 gene DOID:630 genetic disease ISO RGD:1602493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12083111 TSPO2 translocator protein 2 gene DOID:630 genetic disease ISO RGD:1606125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12083119 CD160 CD160 molecule gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1342532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 12083119 CD160 CD160 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1342532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12083119 CD160 CD160 molecule gene DOID:5419 schizophrenia ISO RGD:1342532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12083119 CD160 CD160 molecule gene DOID:630 genetic disease ISO RGD:1342532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12083119 CD160 CD160 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1342532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12083136 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:733364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12083136 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:61909 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 12083136 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:733364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 12083136 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:1059 intellectual disability ISO RGD:733364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12083136 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:10787 premature menopause ISO RGD:61909 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 12083136 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733364 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12083136 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:13580 cholestasis ISO RGD:733364 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17256725 12083136 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:2377 multiple sclerosis ISO RGD:733364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple sclerosis PMID:27253448 12083136 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:5425 ovarian hyperstimulation syndrome ISO RGD:62202 D RGD:9068941 20220825 MouseDO OMIM:608115 12083136 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:630 genetic disease ISO RGD:733364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12083136 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:9002457 Experimental Arthritis ISO RGD:62202 D RGD:9068941 20200609 RGD PMID:21859686|REF_RGD_ID:6480864 12083136 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733364 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17256725 12083136 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:9452 fatty liver disease ISO RGD:733364 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23651738 12083136 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:9970 obesity ISO RGD:733364 D RGD:9068941 20200609 RGD DNA:polymorphism:multiple PMID:17108812|REF_RGD_ID:1626248 12083136 NR1H3 nuclear receptor subfamily 1 group H member 3 gene DOID:9970 obesity disease_progression ISO RGD:61909 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25612518|REF_RGD_ID:15045599 12083177 COQ8B coenzyme Q8B gene DOID:0080391 nephrotic syndrome type 9 ISO RGD:1322771 D RGD:7240710 20180130 OMIM 12083177 COQ8B coenzyme Q8B gene DOID:0080391 nephrotic syndrome type 9 ISO RGD:1322771 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 9 PMID:17576681|PMID:24270420|PMID:25741868|PMID:28204945|PMID:28405841|PMID:28454995|PMID:28492532|PMID:29194833|PMID:29382012|PMID:30076350|PMID:31130284|PMID:31937884|PMID:32543055|PMID:32604935|PMID:32859164|PMID:32957916|PMID:33084234|PMID:33413146|PMID:33532864|PMID:34172776|PMID:9536098 12083177 COQ8B coenzyme Q8B gene DOID:1074 kidney failure ISO RGD:1322771 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Renal failure PMID:25741868 12083177 COQ8B coenzyme Q8B gene DOID:1184 nephrotic syndrome ISO RGD:1322771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:33532864 12083177 COQ8B coenzyme Q8B gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1322771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 12083177 COQ8B coenzyme Q8B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1322771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12083177 COQ8B coenzyme Q8B gene DOID:1342 congenital hypoplastic anemia ISO RGD:1322771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12083177 COQ8B coenzyme Q8B gene DOID:2340 craniosynostosis ISO RGD:1322771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12083177 COQ8B coenzyme Q8B gene DOID:557 kidney disease ISO RGD:1322771 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 12083177 COQ8B coenzyme Q8B gene DOID:630 genetic disease ISO RGD:1322771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:33084234 12083177 COQ8B coenzyme Q8B gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1322771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12083177 COQ8B coenzyme Q8B gene DOID:9269 maple syrup urine disease ISO RGD:1322771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 12083211 HDAC11 histone deacetylase 11 gene DOID:0060417 3p deletion syndrome ISO RGD:1323302 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12083211 HDAC11 histone deacetylase 11 gene DOID:630 genetic disease ISO RGD:1323302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12083229 BRPF1 bromodomain and PHD finger containing 1 gene DOID:0050888 syndromic intellectual disability ISO RGD:1316706 D RGD:9068941 20220825 MouseDO OMIM:300486 | OMIM:300860 | OMIM:309583 12083229 BRPF1 bromodomain and PHD finger containing 1 gene DOID:1059 intellectual disability ISO RGD:1316705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12083229 BRPF1 bromodomain and PHD finger containing 1 gene DOID:12849 autistic disorder ISO RGD:1316705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior 12083229 BRPF1 bromodomain and PHD finger containing 1 gene DOID:1826 epilepsy ISO RGD:1316705 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12083229 BRPF1 bromodomain and PHD finger containing 1 gene DOID:2843 long QT syndrome ISO RGD:1316705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12083229 BRPF1 bromodomain and PHD finger containing 1 gene DOID:630 genetic disease ISO RGD:1316705 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25954003|PMID:27618451|PMID:27939639|PMID:27939640|PMID:28490743|PMID:28492532 12083229 BRPF1 bromodomain and PHD finger containing 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12083229 BRPF1 bromodomain and PHD finger containing 1 gene DOID:9002789 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE ISO RGD:1316705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE PMID:25741868 12083229 BRPF1 bromodomain and PHD finger containing 1 gene DOID:9002914 Familial Sudden Death ISO RGD:1316705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sudden unexplained death in childhood PMID:25741868|PMID:32652122 12083229 BRPF1 bromodomain and PHD finger containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12083229 BRPF1 bromodomain and PHD finger containing 1 gene DOID:9005687 Autosomal Dominant Intellectual Developmental Disorder 64 ISO RGD:1316705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 64 PMID:25741868 12083229 BRPF1 bromodomain and PHD finger containing 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1316705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32652122 12083229 BRPF1 bromodomain and PHD finger containing 1 gene DOID:9008582 Developmental Disease ISO RGD:1316705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12083229 BRPF1 bromodomain and PHD finger containing 1 gene DOID:9008892 Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis ISO RGD:1316705 D RGD:7240710 20190315 OMIM 12083229 BRPF1 bromodomain and PHD finger containing 1 gene DOID:9008892 Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis ISO RGD:1316705 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis PMID:25741868|PMID:27939639|PMID:27939640|PMID:28492532|PMID:32010779|PMID:32652122 12083229 BRPF1 bromodomain and PHD finger containing 1 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1316705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12083257 MYO18B myosin XVIIIB gene DOID:0060224 atrial fibrillation ISO RGD:1349934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12083257 MYO18B myosin XVIIIB gene DOID:0080592 Klippel-Feil syndrome 4 ISO RGD:1349934 D RGD:7240710 20191225 OMIM 12083257 MYO18B myosin XVIIIB gene DOID:0080592 Klippel-Feil syndrome 4 ISO RGD:1349934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | ClinVar Annotator: match by term: Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism PMID:17576681|PMID:25741868|PMID:25748484|PMID:26752647|PMID:27858739|PMID:28492532|PMID:31195167|PMID:31230720|PMID:32184166|PMID:32637634|PMID:33179433|PMID:9536098 12083257 MYO18B myosin XVIIIB gene DOID:0110271 cataract 23 ISO RGD:1349934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 12083257 MYO18B myosin XVIIIB gene DOID:0111406 Fraser syndrome 3 ISO RGD:1349934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:28492532 12083257 MYO18B myosin XVIIIB gene DOID:10426 Klippel-Feil syndrome ISO RGD:1349934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome PMID:25741868 12083257 MYO18B myosin XVIIIB gene DOID:630 genetic disease ISO RGD:1349934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12083257 MYO18B myosin XVIIIB gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1349934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29054765 12083257 MYO18B myosin XVIIIB gene DOID:9003566 Mesothelioma ISO RGD:1349934 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17294804 12083257 MYO18B myosin XVIIIB gene DOID:9005172 Lung Neoplasms ISO RGD:1349934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29054765 12083307 FNDC5 fibronectin type III domain containing 5 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1348160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12083307 FNDC5 fibronectin type III domain containing 5 gene DOID:10763 hypertension ISO RGD:1348160 D RGD:9068941 20201106 CTD CTD Direct Evidence: therapeutic PMID:32165127 12083307 FNDC5 fibronectin type III domain containing 5 gene DOID:12932 endomyocardial fibrosis ISO RGD:1348160 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30703374 12083307 FNDC5 fibronectin type III domain containing 5 gene DOID:630 genetic disease ISO RGD:1348160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12083307 FNDC5 fibronectin type III domain containing 5 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1348160 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30703374 12083307 FNDC5 fibronectin type III domain containing 5 gene DOID:9003936 Cardiomegaly ISO RGD:1348160 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30703374 12083307 FNDC5 fibronectin type III domain containing 5 gene DOID:9005372 Inflammation ISO RGD:1348160 D RGD:9068941 20201106 CTD CTD Direct Evidence: therapeutic PMID:32165127 12083325 ZNF142 zinc finger protein 142 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1320100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12083325 ZNF142 zinc finger protein 142 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1320100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12083325 ZNF142 zinc finger protein 142 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1320100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12083325 ZNF142 zinc finger protein 142 gene DOID:1826 epilepsy ISO RGD:1320100 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12083325 ZNF142 zinc finger protein 142 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1320100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12083325 ZNF142 zinc finger protein 142 gene DOID:630 genetic disease ISO RGD:1320100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12083325 ZNF142 zinc finger protein 142 gene DOID:9000239 Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements ISO RGD:1320100 D RGD:7240710 20190612 OMIM 12083325 ZNF142 zinc finger protein 142 gene DOID:9000239 Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements ISO RGD:1320100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired speech and hyperkinetic movements PMID:25741868|PMID:31036918 12083325 ZNF142 zinc finger protein 142 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12083325 ZNF142 zinc finger protein 142 gene DOID:9008086 Developmental Disabilities ISO RGD:1320100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12083343 ARID4B AT-rich interaction domain 4B gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1604359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12083343 ARID4B AT-rich interaction domain 4B gene DOID:1540 parathyroid carcinoma ISO RGD:1604359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12083343 ARID4B AT-rich interaction domain 4B gene DOID:630 genetic disease ISO RGD:1604359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12083343 ARID4B AT-rich interaction domain 4B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12083380 LRCH4 leucine rich repeats and calponin homology domain containing 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12083380 LRCH4 leucine rich repeats and calponin homology domain containing 4 gene DOID:630 genetic disease ISO RGD:1314592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12083408 KCNT2 potassium sodium-activated channel subfamily T member 2 gene DOID:0080284 developmental and epileptic encephalopathy 57 ISO RGD:1351112 D RGD:7240710 20190315 OMIM 12083408 KCNT2 potassium sodium-activated channel subfamily T member 2 gene DOID:0080284 developmental and epileptic encephalopathy 57 ISO RGD:1351112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 57 PMID:24166878|PMID:25741868|PMID:26724206|PMID:29069600|PMID:29314763|PMID:29740868|PMID:32038177|PMID:32773162 12083408 KCNT2 potassium sodium-activated channel subfamily T member 2 gene DOID:0112045 non-syndromic X-linked intellectual disability 93 ISO RGD:1351112 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 93 PMID:25741868 12083408 KCNT2 potassium sodium-activated channel subfamily T member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1351112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12083408 KCNT2 potassium sodium-activated channel subfamily T member 2 gene DOID:1826 epilepsy ISO RGD:1351112 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:32038177 12083408 KCNT2 potassium sodium-activated channel subfamily T member 2 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1351112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis PMID:32581362 12083408 KCNT2 potassium sodium-activated channel subfamily T member 2 gene DOID:630 genetic disease ISO RGD:1351112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24166878|PMID:25741868|PMID:26724206|PMID:29069600|PMID:29314763|PMID:29740868|PMID:32773162 12083408 KCNT2 potassium sodium-activated channel subfamily T member 2 gene DOID:9000668 Nizon-Isidor Syndrome ISO RGD:1351112 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nizon-Isidor syndrome PMID:25741868 12083408 KCNT2 potassium sodium-activated channel subfamily T member 2 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:1351112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: KCNT2-related condition PMID:25741868|PMID:29069600 12083408 KCNT2 potassium sodium-activated channel subfamily T member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12083441 CDCA3 cell division cycle associated 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1345166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12083441 CDCA3 cell division cycle associated 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12083441 CDCA3 cell division cycle associated 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12083441 CDCA3 cell division cycle associated 3 gene DOID:0080600 COVID-19 ISO RGD:1345166 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12083441 CDCA3 cell division cycle associated 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12083441 CDCA3 cell division cycle associated 3 gene DOID:0110866 congenital stationary night blindness 1H ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1H PMID:10477144|PMID:10523525|PMID:10770297|PMID:10770309|PMID:10770310|PMID:11322952|PMID:12668921|PMID:25741868|PMID:27063057|PMID:28492532|PMID:9425898 12083441 CDCA3 cell division cycle associated 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12083441 CDCA3 cell division cycle associated 3 gene DOID:10825 essential hypertension ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension, essential, susceptibility to PMID:10477144|PMID:10523525|PMID:10770297|PMID:10770309|PMID:10770310|PMID:11322952|PMID:12668921|PMID:25741868|PMID:28492532|PMID:9425898 12083441 CDCA3 cell division cycle associated 3 gene DOID:630 genetic disease ISO RGD:1345166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12083441 CDCA3 cell division cycle associated 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1345166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12083441 CDCA3 cell division cycle associated 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12083455 CFAP92 cilia and flagella associated protein 92 (putative) gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1603021 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:16199547|PMID:20929961|PMID:21057504|PMID:22499348|PMID:25721401|PMID:25741868|PMID:28492532|PMID:30025539 12083455 CFAP92 cilia and flagella associated protein 92 (putative) gene DOID:0110159 Charcot-Marie-Tooth disease type 2B ISO RGD:1603021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B PMID:28492532 12083455 CFAP92 cilia and flagella associated protein 92 (putative) gene DOID:0111947 immunodeficiency 21 ISO RGD:1603021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12083455 CFAP92 cilia and flagella associated protein 92 (putative) gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1603021 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency PMID:16199547|PMID:20929961|PMID:21057504|PMID:22499348|PMID:25326637|PMID:25721401|PMID:25741868|PMID:27233227|PMID:28492532|PMID:30025539|PMID:30831263|PMID:32746448 12083455 CFAP92 cilia and flagella associated protein 92 (putative) gene DOID:630 genetic disease ISO RGD:1603021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25326637|PMID:25741868|PMID:27233227|PMID:28492532|PMID:30831263 12083455 CFAP92 cilia and flagella associated protein 92 (putative) gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1603021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 12083455 CFAP92 cilia and flagella associated protein 92 (putative) gene DOID:9270 alkaptonuria ISO RGD:1603021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12083492 GPR19 G protein-coupled receptor 19 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1344105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12083492 GPR19 G protein-coupled receptor 19 gene DOID:0080137 multiple endocrine neoplasia type 4 ISO RGD:1344105 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia type 4 PMID:28492532 12083492 GPR19 G protein-coupled receptor 19 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1344105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12083492 GPR19 G protein-coupled receptor 19 gene DOID:630 genetic disease ISO RGD:1344105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12083514 YWHAH tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta gene DOID:0050700 cardiomyopathy ISO RGD:737555 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18342293 12083514 YWHAH tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:737555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 12083514 YWHAH tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta gene DOID:630 genetic disease ISO RGD:737555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12083514 YWHAH tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737555 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18342293 12083521 RHOBTB2 Rho related BTB domain containing 2 gene DOID:10283 prostate cancer ISO RGD:1320529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12083521 RHOBTB2 Rho related BTB domain containing 2 gene DOID:1206 Rett syndrome ISO RGD:1320529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:18298893|PMID:25741868|PMID:28492532|PMID:29276004 12083521 RHOBTB2 Rho related BTB domain containing 2 gene DOID:1826 epilepsy ISO RGD:1320529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12083521 RHOBTB2 Rho related BTB domain containing 2 gene DOID:543 dystonia ISO RGD:1320529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:18835386|PMID:25741868|PMID:28492532|PMID:29276004|PMID:29768694|PMID:31780880|PMID:32337345|PMID:32581362|PMID:33504645 12083521 RHOBTB2 Rho related BTB domain containing 2 gene DOID:574 peripheral nervous system disease ISO RGD:1320529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 12083521 RHOBTB2 Rho related BTB domain containing 2 gene DOID:630 genetic disease ISO RGD:1320529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18298893|PMID:18835386|PMID:25741868|PMID:26740508|PMID:28492532|PMID:28856709|PMID:29276004|PMID:29768694|PMID:31780880|PMID:32337345|PMID:32581362|PMID:33504645 12083521 RHOBTB2 Rho related BTB domain containing 2 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1320529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12083521 RHOBTB2 Rho related BTB domain containing 2 gene DOID:9009181 Developmental and Epileptic Encephalopathy 64 ISO RGD:1320529 D RGD:7240710 20190315 OMIM 12083521 RHOBTB2 Rho related BTB domain containing 2 gene DOID:9009181 Developmental and Epileptic Encephalopathy 64 ISO RGD:1320529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 64 PMID:18298893|PMID:18835386|PMID:25741868|PMID:26740508|PMID:28492532|PMID:28856709|PMID:29276004|PMID:29768694|PMID:31780880|PMID:32337345|PMID:32581362|PMID:33504645|PMID:33619735 12083594 ZSCAN31 zinc finger and SCAN domain containing 31 gene DOID:11372 megacolon ISO RGD:1605639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12083594 ZSCAN31 zinc finger and SCAN domain containing 31 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605639 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:28722770 12083594 ZSCAN31 zinc finger and SCAN domain containing 31 gene DOID:630 genetic disease ISO RGD:1605639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12083635 MCRIP2 MAPK regulated corepressor interacting protein 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1346193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12083635 MCRIP2 MAPK regulated corepressor interacting protein 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1346193 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12083635 MCRIP2 MAPK regulated corepressor interacting protein 2 gene DOID:1826 epilepsy ISO RGD:1346193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12083635 MCRIP2 MAPK regulated corepressor interacting protein 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1346193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12083635 MCRIP2 MAPK regulated corepressor interacting protein 2 gene DOID:630 genetic disease ISO RGD:1346193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12083657 PACSIN2 protein kinase C and casein kinase substrate in neurons 2 gene DOID:1059 intellectual disability ISO RGD:69456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12083657 PACSIN2 protein kinase C and casein kinase substrate in neurons 2 gene DOID:2661 myoepithelioma ISO RGD:69456 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12083657 PACSIN2 protein kinase C and casein kinase substrate in neurons 2 gene DOID:630 genetic disease ISO RGD:69456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12083657 PACSIN2 protein kinase C and casein kinase substrate in neurons 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:69456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12083657 PACSIN2 protein kinase C and casein kinase substrate in neurons 2 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:69456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 12083692 TLR9 toll like receptor 9 gene DOID:0050127 sinusitis ISO RGD:1346715 D RGD:9068941 20200609 RGD Acute Sinusitis; protein:decreased expression:nasal mucosa, epithelial cell (human) PMID:18416964|REF_RGD_ID:5130708 12083692 TLR9 toll like receptor 9 gene DOID:0050127 sinusitis ISO RGD:1346715 D RGD:9068941 20200609 RGD Chronic Sinusitis; protein:decreased expression:nasal mucosa, epithelial cell (human) PMID:17283572|REF_RGD_ID:5130870 12083692 TLR9 toll like receptor 9 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:17686871|REF_RGD_ID:7794851 12083692 TLR9 toll like receptor 9 gene DOID:0080162 lupus nephritis ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:snps:intron, exon:g.+1174G>A, g.+1635C>T (rs352139, rs352140) (human, Chinese) PMID:20497632|REF_RGD_ID:7246884 12083692 TLR9 toll like receptor 9 gene DOID:0080162 lupus nephritis ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus (human) PMID:19578108|REF_RGD_ID:7246896 12083692 TLR9 toll like receptor 9 gene DOID:0080162 lupus nephritis ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:23467932|REF_RGD_ID:7245987 12083692 TLR9 toll like receptor 9 gene DOID:0080162 lupus nephritis no_association ISO RGD:1346715 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic; DNA:snps:promoter, intron:g.-1486T>C, g.+1174A>G (rs187084, rs352139) (human, North Indian) PMID:22787315|REF_RGD_ID:7245989 12083692 TLR9 toll like receptor 9 gene DOID:0080162 lupus nephritis severity ISO RGD:1549988 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (mouse) PMID:17469139|REF_RGD_ID:7246911 12083692 TLR9 toll like receptor 9 gene DOID:0080162 lupus nephritis treatment ISO RGD:1549988 D RGD:9068941 20200609 RGD associated with Graft vs Host Disease PMID:21127878|REF_RGD_ID:7246897 12083692 TLR9 toll like receptor 9 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human, mouse) PMID:28687713|REF_RGD_ID:18337289 12083692 TLR9 toll like receptor 9 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1549988 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human, mouse) PMID:28687713|REF_RGD_ID:18337289 12083692 TLR9 toll like receptor 9 gene DOID:0080547 non-alcoholic steatohepatitis disease_progression ISO RGD:1549988 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:serum, liver (mouse) PMID:24650018|REF_RGD_ID:18337469 12083692 TLR9 toll like receptor 9 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1346715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12083692 TLR9 toll like receptor 9 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:631352 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas (rat) PMID:18376319|REF_RGD_ID:5130184 12083692 TLR9 toll like receptor 9 gene DOID:10113 trypanosomiasis ISO RGD:1549988 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (mouse) PMID:18565585|REF_RGD_ID:18337478 12083692 TLR9 toll like receptor 9 gene DOID:10223 dermatomyositis ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:muscle PMID:19953283|REF_RGD_ID:7794747 12083692 TLR9 toll like receptor 9 gene DOID:10457 Legionnaires' disease ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:18426877|REF_RGD_ID:5130707 12083692 TLR9 toll like receptor 9 gene DOID:10533 viral pneumonia ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-1237T>C rs5743836 (human) PMID:19539691|REF_RGD_ID:5130766 12083692 TLR9 toll like receptor 9 gene DOID:10690 mastitis resistance ISO RGD:631352 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland (rat) PMID:17321466|REF_RGD_ID:5130197 12083692 TLR9 toll like receptor 9 gene DOID:11166 papillomavirus infectious disease resistance ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA:increased expression:cervix epithelium (human) PMID:20473890|REF_RGD_ID:5129102 12083692 TLR9 toll like receptor 9 gene DOID:11168 anogenital venereal wart ISO RGD:1346715 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 12083692 TLR9 toll like receptor 9 gene DOID:11204 allergic conjunctivitis ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:conjunctiva: PMID:16023216|REF_RGD_ID:7794849 12083692 TLR9 toll like receptor 9 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:17925007|REF_RGD_ID:5130709 12083692 TLR9 toll like receptor 9 gene DOID:12236 primary biliary cholangitis ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:liver, peripheral blood mononuclear cell (human) PMID:23026026|REF_RGD_ID:18337477 12083692 TLR9 toll like receptor 9 gene DOID:1287 cardiovascular system disease ISO RGD:1346715 D RGD:9068941 20200609 RGD associated with kidney transplant; DNA:snp:promoter:g.-1237C>T rs5743836 (human) PMID:20604744|REF_RGD_ID:7246901 12083692 TLR9 toll like receptor 9 gene DOID:13139 crescentic glomerulonephritis severity ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:20847283|REF_RGD_ID:7246899 12083692 TLR9 toll like receptor 9 gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:18936185|REF_RGD_ID:5130858 12083692 TLR9 toll like receptor 9 gene DOID:13166 allergic bronchopulmonary aspergillosis susceptibility ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-1237T>C (rs5743836) (human) PMID:18275280|REF_RGD_ID:5130863 12083692 TLR9 toll like receptor 9 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:blood, neutrophil (human) PMID:18433921|REF_RGD_ID:5130706 12083692 TLR9 toll like receptor 9 gene DOID:1485 cystic fibrosis ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:20837493|REF_RGD_ID:5130208 12083692 TLR9 toll like receptor 9 gene DOID:1612 breast cancer ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:breast, epithelial cell (human) PMID:18922969|REF_RGD_ID:7246913 12083692 TLR9 toll like receptor 9 gene DOID:1749 squamous cell carcinoma ISO RGD:1346715 D RGD:9068941 20200609 RGD invasive squamous cell carcinoma of the cervix; mRNA:increased expression:tumor:significantly increased vs normal cervical tissue (p=0.012) PMID:17440926|REF_RGD_ID:2301099 12083692 TLR9 toll like receptor 9 gene DOID:1883 hepatitis C ISO RGD:1346715 D RGD:9068941 20200609 RGD associated with psoriasis;mRNA:increased expession:skin (human) PMID:27184185|REF_RGD_ID:18337479 12083692 TLR9 toll like receptor 9 gene DOID:1883 hepatitis C susceptibility ISO RGD:1346715 D RGD:9068941 20200609 RGD associated with acquired immunodeficiency syndrome;DNA:SNP:exon: (rs352140) (human) PMID:28062211|REF_RGD_ID:18337466 12083692 TLR9 toll like receptor 9 gene DOID:2043 hepatitis B susceptibility ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNP:exon:2848G>A (rs352140) (human) PMID:25388852|REF_RGD_ID:18337480 12083692 TLR9 toll like receptor 9 gene DOID:2799 bronchiolitis obliterans ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, 3' utr:g.-1485C>T (rs187084), rs352162 (human) PMID:20227302|REF_RGD_ID:5130722 12083692 TLR9 toll like receptor 9 gene DOID:2841 asthma ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:20016192|REF_RGD_ID:5129104 12083692 TLR9 toll like receptor 9 gene DOID:2841 asthma no_association ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-1237T>C rs5743836 (human) PMID:21324137|REF_RGD_ID:5130712 12083692 TLR9 toll like receptor 9 gene DOID:2841 asthma severity ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood mononuclear cell (human) PMID:20072849|REF_RGD_ID:4889523 12083692 TLR9 toll like receptor 9 gene DOID:2841 asthma susceptibility ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-1237T>C (rs5743836) (human) PMID:18312481|REF_RGD_ID:4144208 12083692 TLR9 toll like receptor 9 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1549988 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (mouse) PMID:18256364|REF_RGD_ID:7246909 12083692 TLR9 toll like receptor 9 gene DOID:2957 pulmonary tuberculosis ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:19771452|REF_RGD_ID:5130704 12083692 TLR9 toll like receptor 9 gene DOID:2986 IgA glomerulonephritis ISO RGD:1549988 D RGD:9068941 20200609 RGD associated with Graft vs Host Disease; mRNA:increased expression:splenocyte (mouse) PMID:21621468|REF_RGD_ID:7246893 12083692 TLR9 toll like receptor 9 gene DOID:2986 IgA glomerulonephritis severity ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNPs:intron, exon:IVS4-44A>G, c.1635G>A (rs352139, rs352140) (human) PMID:18776126|REF_RGD_ID:7246889 12083692 TLR9 toll like receptor 9 gene DOID:2986 IgA glomerulonephritis severity ISO RGD:1549988 D RGD:9068941 20200609 RGD DNA, mRNA:SNP, increased expression:exon, spleen:g.159C>G (mouse) PMID:18776126|REF_RGD_ID:7246889 12083692 TLR9 toll like receptor 9 gene DOID:2986 IgA glomerulonephritis treatment ISO RGD:1549988 D RGD:9068941 20200609 RGD associated with Graft vs Host Disease PMID:21621468|REF_RGD_ID:7246893 12083692 TLR9 toll like receptor 9 gene DOID:3021 acute kidney failure ISO RGD:1549988 D RGD:9068941 20200609 RGD associated with Sepsis PMID:23548820|REF_RGD_ID:7245966 12083692 TLR9 toll like receptor 9 gene DOID:3082 interstitial lung disease ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (human) PMID:18633634|REF_RGD_ID:5130206 12083692 TLR9 toll like receptor 9 gene DOID:3265 chronic granulomatous disease ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:decreased expression:blood, neutrophil (human) PMID:18155283|REF_RGD_ID:5130865 12083692 TLR9 toll like receptor 9 gene DOID:3770 pulmonary fibrosis ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:18633634|REF_RGD_ID:5130206 12083692 TLR9 toll like receptor 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:tumor (human) PMID:15631627|REF_RGD_ID:5130185 12083692 TLR9 toll like receptor 9 gene DOID:4450 renal cell carcinoma severity ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:decreased expression:tumor, cytoplasm (human) PMID:21929816|REF_RGD_ID:7246915 12083692 TLR9 toll like receptor 9 gene DOID:4481 allergic rhinitis ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:decreased expression:nasal mucosa: PMID:22577387|REF_RGD_ID:7800740 12083692 TLR9 toll like receptor 9 gene DOID:5199 ureteral obstruction ISO RGD:1549988 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (mouse) PMID:21544241|REF_RGD_ID:7246895 12083692 TLR9 toll like receptor 9 gene DOID:576 proteinuria ISO RGD:1346715 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic; DNA:snp:intron:g.1174A>G rs352139 (human) PMID:22787315|REF_RGD_ID:7245989 12083692 TLR9 toll like receptor 9 gene DOID:576 proteinuria ISO RGD:1549988 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic PMID:23467932|REF_RGD_ID:7245987 12083692 TLR9 toll like receptor 9 gene DOID:630 genetic disease ISO RGD:1346715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12083692 TLR9 toll like receptor 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1346715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24990399 12083692 TLR9 toll like receptor 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1346715 D RGD:9068941 20200609 RGD protein: increased expression:peripheral blood mononuclear cell (human) PMID:18215354|REF_RGD_ID:18337472 12083692 TLR9 toll like receptor 9 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1346715 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:24452201|REF_RGD_ID:18337468 12083692 TLR9 toll like receptor 9 gene DOID:784 chronic kidney disease susceptibility ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:g.-1237T>C, g.1635G>A (rs5743836, rs352140) (human, Han Chinese) PMID:21908957|REF_RGD_ID:7246887 12083692 TLR9 toll like receptor 9 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:631352 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum (rat) PMID:19608731|REF_RGD_ID:5128779 12083692 TLR9 toll like receptor 9 gene DOID:874 bacterial pneumonia ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:20360853|REF_RGD_ID:5130719 12083692 TLR9 toll like receptor 9 gene DOID:8778 Crohn's disease ISO RGD:1346715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15236225|PMID:17914947 12083692 TLR9 toll like receptor 9 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:tumor:expression increases with the histopathological grade (p<0.001) PMID:17440926|REF_RGD_ID:2301099 12083692 TLR9 toll like receptor 9 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:1549988 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:12781911|REF_RGD_ID:7794740 12083692 TLR9 toll like receptor 9 gene DOID:9000989 Pneumococcal Infections ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:17004992|REF_RGD_ID:5130710 12083692 TLR9 toll like receptor 9 gene DOID:9000998 Brain Injuries ISO RGD:1346715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 12083692 TLR9 toll like receptor 9 gene DOID:9001004 Chronic Periodontitis severity ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:gingiva: PMID:21848608|REF_RGD_ID:7794852 12083692 TLR9 toll like receptor 9 gene DOID:9001295 Achlorhydria ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-1237T>C (rs5743836) (human) PMID:20038537|REF_RGD_ID:5130741 12083692 TLR9 toll like receptor 9 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1346715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19797157 12083692 TLR9 toll like receptor 9 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:17853411|REF_RGD_ID:5130186 12083692 TLR9 toll like receptor 9 gene DOID:9002869 Schistosomiasis Mansoni ISO RGD:1346715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19797157 12083692 TLR9 toll like receptor 9 gene DOID:9003036 Oral Lichen Planus ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:oral epithelium: PMID:22672741|REF_RGD_ID:7777153 12083692 TLR9 toll like receptor 9 gene DOID:9003157 Respiratory Sounds ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-1486C>T rs187084 (human) PMID:20085599|REF_RGD_ID:5130731 12083692 TLR9 toll like receptor 9 gene DOID:9003615 Granuloma, Foreign-Body ISO RGD:1346715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19797157 12083692 TLR9 toll like receptor 9 gene DOID:9003828 Klebsiella Infections ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:17785831|REF_RGD_ID:5130866 12083692 TLR9 toll like receptor 9 gene DOID:9003870 Herpes Simplex Encephalitis resistance ISO RGD:631352 D RGD:9068941 20200609 RGD mRNA:increased expression:cheek (rat) PMID:20806060|REF_RGD_ID:5130178 12083692 TLR9 toll like receptor 9 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:liver, peripheral blood mononuclear cell (human) PMID:23026026|REF_RGD_ID:18337477 12083692 TLR9 toll like receptor 9 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:peripheral blood mononuclear cell (human) PMID:19513613|REF_RGD_ID:18337470 12083692 TLR9 toll like receptor 9 gene DOID:9004283 Transplant Rejection susceptibility ISO RGD:1346715 D RGD:9068941 20200609 RGD kidney; DNA:snp:exon:g.+2848G>A rs352140 (human, North Indian) PMID:22251233|REF_RGD_ID:7246885 12083692 TLR9 toll like receptor 9 gene DOID:9004538 Hearing Loss ISO RGD:1346715 D RGD:9068941 20200609 RGD associated with Meningitis,Bacterial; DNA:SNP: :-1237T>C(rs5743836)(human) PMID:22662111|REF_RGD_ID:7800663 12083692 TLR9 toll like receptor 9 gene DOID:9005172 Lung Neoplasms ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:tumor (human) PMID:18763053|REF_RGD_ID:5130705 12083692 TLR9 toll like receptor 9 gene DOID:9005358 Hypergammaglobulinemia ISO RGD:1549988 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic PMID:23467932|REF_RGD_ID:7245987 12083692 TLR9 toll like receptor 9 gene DOID:9005372 Inflammation ISO RGD:1346715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19797157 12083692 TLR9 toll like receptor 9 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:631352 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple tissues PMID:18434754|REF_RGD_ID:2312677 12083692 TLR9 toll like receptor 9 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1346715 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24273604 12083692 TLR9 toll like receptor 9 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression: blood, neutrophil (human) PMID:26457748|REF_RGD_ID:18337465 12083692 TLR9 toll like receptor 9 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:19164858|PMID:23509352|REF_RGD_ID:18337473|REF_RGD_ID:18337476 12083692 TLR9 toll like receptor 9 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA, protein: decreased expression:liver, CD14-positive monocyte (human) PMID:24622882|REF_RGD_ID:18337464 12083692 TLR9 toll like receptor 9 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1346715 D RGD:9068941 20200609 RGD protein: increased expression:peripheral blood mononuclear cell (human) PMID:18215354|REF_RGD_ID:18337472 12083692 TLR9 toll like receptor 9 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood mononuclear cell (human) PMID:27126946|REF_RGD_ID:18337474 12083692 TLR9 toll like receptor 9 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNPs: 5'UTR: (rs5743836, rs187084) (human) PMID:30453064|REF_RGD_ID:18337467 12083692 TLR9 toll like receptor 9 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:peripheral blood mononuclear cell (human) PMID:19513613|REF_RGD_ID:18337470 12083692 TLR9 toll like receptor 9 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1346715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 12083692 TLR9 toll like receptor 9 gene DOID:9008691 Liver Injury severity ISO RGD:1549988 D RGD:9068941 20200609 RGD associated with Hemorrhagic Shock PMID:20577143|REF_RGD_ID:18337475 12083692 TLR9 toll like receptor 9 gene DOID:9008691 Liver Injury severity ISO RGD:1549988 D RGD:9068941 20200609 RGD associated with Kidney Reperfusion Injury PMID:26361210|REF_RGD_ID:18337471 12083692 TLR9 toll like receptor 9 gene DOID:9008765 Malarial Anemia susceptibility ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-1237T>C (rs5743836) (human) PMID:23045477|REF_RGD_ID:11344971 12083692 TLR9 toll like receptor 9 gene DOID:9074 systemic lupus erythematosus ISO RGD:1549988 D RGD:9068941 20200609 RGD mRNA:increased expression:B lymphocyte (mouse) PMID:21592581|REF_RGD_ID:7246894 12083692 TLR9 toll like receptor 9 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:16973389|REF_RGD_ID:7245988 12083692 TLR9 toll like receptor 9 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:snp:exon:c.1635C>T rs352140 (human) PMID:19130296|REF_RGD_ID:5130767 12083692 TLR9 toll like receptor 9 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:decreased expression:skin: PMID:20493664|REF_RGD_ID:7794748 12083720 NPY5R neuropeptide Y receptor Y5 gene DOID:0050830 peripheral artery disease ISO RGD:731586 D RGD:9068941 20200609 RGD PMID:21468772|REF_RGD_ID:10448273 12083720 NPY5R neuropeptide Y receptor Y5 gene DOID:11832 visual epilepsy ISO RGD:3199 D RGD:9068941 20200609 RGD PMID:9212103|REF_RGD_ID:1625496 12083720 NPY5R neuropeptide Y receptor Y5 gene DOID:1825 childhood absence epilepsy treatment ISO RGD:3199 D RGD:9068941 20200609 RGD PMID:17331209|REF_RGD_ID:10448963 12083720 NPY5R neuropeptide Y receptor Y5 gene DOID:1936 atherosclerosis ISO RGD:11017 D RGD:9068941 20200609 RGD PMID:21468772|REF_RGD_ID:10448273 12083720 NPY5R neuropeptide Y receptor Y5 gene DOID:2018 hyperinsulinism ISO RGD:3199 D RGD:9068941 20200609 RGD PMID:15187000|REF_RGD_ID:1625494 12083720 NPY5R neuropeptide Y receptor Y5 gene DOID:3146 lipid metabolism disorder susceptibility ISO RGD:731586 D RGD:9068941 20200609 RGD DNA:SNPs: :many PMID:17426313|REF_RGD_ID:1625492 12083720 NPY5R neuropeptide Y receptor Y5 gene DOID:4247 coronary restenosis ISO RGD:3199 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:carotid artery PMID:12689918|REF_RGD_ID:1625501 12083720 NPY5R neuropeptide Y receptor Y5 gene DOID:5394 prolactinoma ISO RGD:3199 D RGD:9068941 20200609 RGD protein:increased expression:pars anterior PMID:11026575|REF_RGD_ID:1625506 12083720 NPY5R neuropeptide Y receptor Y5 gene DOID:630 genetic disease ISO RGD:731586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12083720 NPY5R neuropeptide Y receptor Y5 gene DOID:9001039 Leukocytosis ISO RGD:3199 D RGD:9068941 20200609 RGD PMID:12417430|REF_RGD_ID:729324 12083720 NPY5R neuropeptide Y receptor Y5 gene DOID:9005372 Inflammation ISO RGD:3199 D RGD:9068941 20200609 RGD PMID:12161018|REF_RGD_ID:1625503 12083720 NPY5R neuropeptide Y receptor Y5 gene DOID:9970 obesity ISO RGD:3199 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus PMID:17447163|REF_RGD_ID:10448938 12083720 NPY5R neuropeptide Y receptor Y5 gene DOID:9970 obesity ISO RGD:731586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10849579 12083720 NPY5R neuropeptide Y receptor Y5 gene DOID:9970 obesity susceptibility ISO RGD:731586 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:10849579|REF_RGD_ID:1625493 12083733 HTR2B 5-hydroxytryptamine receptor 2B gene DOID:0060476 Perlman syndrome ISO RGD:731795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12083733 HTR2B 5-hydroxytryptamine receptor 2B gene DOID:0110991 Joubert syndrome 22 ISO RGD:731795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12083733 HTR2B 5-hydroxytryptamine receptor 2B gene DOID:10763 hypertension ISO RGD:731795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8627522 12083733 HTR2B 5-hydroxytryptamine receptor 2B gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:62093 D RGD:9068941 20220825 MouseDO 12083733 HTR2B 5-hydroxytryptamine receptor 2B gene DOID:1935 Bardet-Biedl syndrome ISO RGD:731795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:29127258 12083733 HTR2B 5-hydroxytryptamine receptor 2B gene DOID:4079 heart valve disease ISO RGD:731795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10617681|PMID:11104741|PMID:16141947|PMID:19505264 12083733 HTR2B 5-hydroxytryptamine receptor 2B gene DOID:4079 heart valve disease treatment ISO RGD:61801 D RGD:9068941 20200609 RGD PMID:19346455|REF_RGD_ID:9698458 12083733 HTR2B 5-hydroxytryptamine receptor 2B gene DOID:6000 congestive heart failure ISO RGD:61801 D RGD:9068941 20200609 RGD mRNA:increased expression:left ventricle cardiac muscle (rat) PMID:17936780|REF_RGD_ID:9698457 12083733 HTR2B 5-hydroxytryptamine receptor 2B gene DOID:6000 congestive heart failure ISO RGD:731795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19023134 12083733 HTR2B 5-hydroxytryptamine receptor 2B gene DOID:630 genetic disease ISO RGD:731795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12083733 HTR2B 5-hydroxytryptamine receptor 2B gene DOID:6432 pulmonary hypertension ISO RGD:731795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14659797 12083733 HTR2B 5-hydroxytryptamine receptor 2B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:61801 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:16936262|REF_RGD_ID:9743846 12083733 HTR2B 5-hydroxytryptamine receptor 2B gene DOID:9003936 Cardiomegaly ISO RGD:731795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15302781|PMID:19023134|PMID:20374255 12083733 HTR2B 5-hydroxytryptamine receptor 2B gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16863450 12083738 INTS10 integrator complex subunit 10 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1602701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 12083738 INTS10 integrator complex subunit 10 gene DOID:630 genetic disease ISO RGD:1602701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12083780 SNX25 sorting nexin 25 gene DOID:12849 autistic disorder ISO RGD:1320883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12083780 SNX25 sorting nexin 25 gene DOID:12930 dilated cardiomyopathy ISO RGD:1320883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 12083780 SNX25 sorting nexin 25 gene DOID:630 genetic disease ISO RGD:1320883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12083780 SNX25 sorting nexin 25 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1320883 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 12083809 IQCF1 IQ motif containing F1 gene DOID:630 genetic disease ISO RGD:1348129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12083817 MCRS1 microspherule protein 1 gene DOID:630 genetic disease ISO RGD:1323153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12083853 PFKP phosphofructokinase, platelet gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:731015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 12083853 PFKP phosphofructokinase, platelet gene DOID:5419 schizophrenia ISO RGD:731015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12083853 PFKP phosphofructokinase, platelet gene DOID:630 genetic disease ISO RGD:731015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12083853 PFKP phosphofructokinase, platelet gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731015 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12083880 MYL5 myosin light chain 5 gene DOID:0110375 retinitis pigmentosa 40 ISO RGD:1354290 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 40 12083880 MYL5 myosin light chain 5 gene DOID:1856 cherubism ISO RGD:1354290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12083880 MYL5 myosin light chain 5 gene DOID:630 genetic disease ISO RGD:1354290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12083880 MYL5 myosin light chain 5 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1354290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 12083896 BCKDK branched chain keto acid dehydrogenase kinase gene DOID:0060041 autism spectrum disorder ISO RGD:69215 D RGD:9068941 20220825 MouseDO 12083896 BCKDK branched chain keto acid dehydrogenase kinase gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:69214 D RGD:7240710 20180130 OMIM 12083896 BCKDK branched chain keto acid dehydrogenase kinase gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:69214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:17576681|PMID:22956686|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 12083896 BCKDK branched chain keto acid dehydrogenase kinase gene DOID:1059 intellectual disability ISO RGD:69214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 12083896 BCKDK branched chain keto acid dehydrogenase kinase gene DOID:14228 oligospermia ISO RGD:2198 D RGD:9068941 20201015 RGD DNA:missense mutation:cds:G369E (rat) PMID:27472223|REF_RGD_ID:39131293 12083896 BCKDK branched chain keto acid dehydrogenase kinase gene DOID:1826 epilepsy ISO RGD:69214 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:26467025|PMID:28492532 12083896 BCKDK branched chain keto acid dehydrogenase kinase gene DOID:630 genetic disease ISO RGD:69214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12083896 BCKDK branched chain keto acid dehydrogenase kinase gene DOID:9269 maple syrup urine disease ISO RGD:69214 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease, mild variant PMID:25741868|PMID:35205278 12083912 MIGA1 mitoguardin 1 gene DOID:630 genetic disease ISO RGD:1605523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12083935 SLC10A1 solute carrier family 10 member 1 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:3681 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 12083935 SLC10A1 solute carrier family 10 member 1 gene DOID:13580 cholestasis treatment ISO RGD:3681 D RGD:9068941 20200609 RGD PMID:29655695|REF_RGD_ID:15090803 12083935 SLC10A1 solute carrier family 10 member 1 gene DOID:13580 cholestasis treatment ISO RGD:3681 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:27090119|REF_RGD_ID:15090804 12083935 SLC10A1 solute carrier family 10 member 1 gene DOID:2043 hepatitis B ISO RGD:737174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatitis B virus, resistance to PMID:14660639|PMID:25418280|PMID:27882152|PMID:28835676|PMID:29658451 12083935 SLC10A1 solute carrier family 10 member 1 gene DOID:630 genetic disease ISO RGD:737174 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12083935 SLC10A1 solute carrier family 10 member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 12083935 SLC10A1 solute carrier family 10 member 1 gene DOID:9003473 Familial Hypercholanemia 2 ISO RGD:737174 D RGD:7240710 20210414 OMIM 12083935 SLC10A1 solute carrier family 10 member 1 gene DOID:9003473 Familial Hypercholanemia 2 ISO RGD:737174 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial, 2 PMID:14660639|PMID:24867799|PMID:25418280|PMID:25741868|PMID:27882152|PMID:28835676|PMID:29658451 12083935 SLC10A1 solute carrier family 10 member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:3681 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:28827769|REF_RGD_ID:15045609 12083935 SLC10A1 solute carrier family 10 member 1 gene DOID:9970 obesity disease_progression ISO RGD:3681 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25612518|REF_RGD_ID:15045599 12083944 PIR pirin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12083944 PIR pirin gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1342511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 12083944 PIR pirin gene DOID:12849 autistic disorder ISO RGD:1342511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12083944 PIR pirin gene DOID:13636 Fanconi anemia ISO RGD:1342511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 12083944 PIR pirin gene DOID:2773 contact dermatitis ISO RGD:1342511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12083944 PIR pirin gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1342511 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 12083944 PIR pirin gene DOID:630 genetic disease ISO RGD:1342511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12083944 PIR pirin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12083961 DDX3X DEAD-box helicase 3 X-linked gene DOID:0050902 medulloblastoma ISO RGD:1352934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26822237 12083961 DDX3X DEAD-box helicase 3 X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12083961 DDX3X DEAD-box helicase 3 X-linked gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1352934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 12083961 DDX3X DEAD-box helicase 3 X-linked gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1352934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 12083961 DDX3X DEAD-box helicase 3 X-linked gene DOID:0070338 cerebellar hypoplasia ISO RGD:1352934 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:26235985|PMID:31474318 12083961 DDX3X DEAD-box helicase 3 X-linked gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1352934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 12083961 DDX3X DEAD-box helicase 3 X-linked gene DOID:1059 intellectual disability ISO RGD:1352934 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:26235985|PMID:28492532|PMID:30349862|PMID:32165824|PMID:34008892 12083961 DDX3X DEAD-box helicase 3 X-linked gene DOID:12849 autistic disorder ISO RGD:1352934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12083961 DDX3X DEAD-box helicase 3 X-linked gene DOID:1612 breast cancer exacerbates ISO RGD:1352934 D RGD:9068941 20220210 RGD protein:increased expression:breast, nucleus (human) PMID:28761359|REF_RGD_ID:151356502 12083961 DDX3X DEAD-box helicase 3 X-linked gene DOID:1790 malignant mesothelioma ISO RGD:1352934 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 12083961 DDX3X DEAD-box helicase 3 X-linked gene DOID:1826 epilepsy ISO RGD:1352934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 12083961 DDX3X DEAD-box helicase 3 X-linked gene DOID:630 genetic disease ISO RGD:1352934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12535527|PMID:16199547|PMID:17576681|PMID:17631897|PMID:2563148|PMID:25741868|PMID:26235985|PMID:26598523|PMID:28333917|PMID:28371085|PMID:28492532|PMID:30349862|PMID:30734472|PMID:30817323|PMID:31618753|PMID:32135084|PMID:32371413|PMID:33504798|PMID:9536098 12083961 DDX3X DEAD-box helicase 3 X-linked gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1557808 D RGD:9068941 20220210 RGD PMID:30297359|REF_RGD_ID:151356499 12083961 DDX3X DEAD-box helicase 3 X-linked gene DOID:684 hepatocellular carcinoma sexual_dimorphism ISO RGD:1352934 D RGD:9068941 20220210 RGD associated with hepatitis B; mRNA,protein:decreased expression:liver (human) PMID:16301996|REF_RGD_ID:151356660 12083961 DDX3X DEAD-box helicase 3 X-linked gene DOID:8398 osteoarthritis ISO RGD:1352934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12083961 DDX3X DEAD-box helicase 3 X-linked gene DOID:8649 tongue cancer ameliorates ISO RGD:1557808 D RGD:9068941 20220210 RGD PMID:25918862|REF_RGD_ID:151356506 12083961 DDX3X DEAD-box helicase 3 X-linked gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352934 D RGD:9068941 20220210 RGD human cells in mouse model PMID:26087195|REF_RGD_ID:11096798 12083961 DDX3X DEAD-box helicase 3 X-linked gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1352934 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 12083961 DDX3X DEAD-box helicase 3 X-linked gene DOID:9002789 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE ISO RGD:1352934 D RGD:7240710 20180130 OMIM 12083961 DDX3X DEAD-box helicase 3 X-linked gene DOID:9002789 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE ISO RGD:1352934 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: DDX3X-related X-linked intellectual disability | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE | ClinVar Annotator: match by term: X-linked intellectual disability-hypotonia-movement disorder syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:25533962|PMID:2563148|PMID:25741868|PMID:25741895|PMID:26235985|PMID:26598523|PMID:27159028|PMID:28371085|PMID:28492532|PMID:29490693|PMID:30349862|PMID:30734472|PMID:30817323|PMID:30936465|PMID:31474318|PMID:31618753|PMID:32135084|PMID:32371413|PMID:33504798|PMID:33692367|PMID:34008892|PMID:9536098 12083961 DDX3X DEAD-box helicase 3 X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12083961 DDX3X DEAD-box helicase 3 X-linked gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1352934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12083961 DDX3X DEAD-box helicase 3 X-linked gene DOID:9008086 Developmental Disabilities ISO RGD:1352934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741895 12083961 DDX3X DEAD-box helicase 3 X-linked gene DOID:9256 colorectal cancer ISO RGD:1352934 D RGD:9068941 20220210 RGD protein:increased expression:colorectum (human) PMID:31391454|REF_RGD_ID:151356658 12083961 DDX3X DEAD-box helicase 3 X-linked gene DOID:9256 colorectal cancer ameliorates ISO RGD:1352934 D RGD:9068941 20220210 RGD human cells in mouse model PMID:31391454|REF_RGD_ID:151356658 12083961 DDX3X DEAD-box helicase 3 X-linked gene DOID:9256 colorectal cancer exacerbates ISO RGD:1352934 D RGD:9068941 20220210 RGD protein:increased expression:colorectum (human) PMID:26892600|PMID:27007150|REF_RGD_ID:151356503|REF_RGD_ID:151356505 12083961 DDX3X DEAD-box helicase 3 X-linked gene DOID:9256 colorectal cancer exacerbates ISO RGD:1352934 D RGD:9068941 20220210 RGD protein:increased expression:colorectum, nucleus (human) PMID:28761359|REF_RGD_ID:151356502 12083961 DDX3X DEAD-box helicase 3 X-linked gene DOID:9256 colorectal cancer treatment ISO RGD:1352934 D RGD:9068941 20220210 RGD PMID:26087195|REF_RGD_ID:11096798 12083994 ENPP4 ectonucleotide pyrophosphatase/phosphodiesterase 4 gene DOID:630 genetic disease ISO RGD:1318608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084016 LOC486404 glutathione S-transferase theta-4 gene DOID:5419 schizophrenia ISO RGD:1602006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12084025 C1S complement C1s gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1605130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12084025 C1S complement C1s gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1605130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12084025 C1S complement C1s gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1605130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12084025 C1S complement C1s gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1605130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12084025 C1S complement C1s gene DOID:0080939 hereditary angioedema type I ISO RGD:1605130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3184114 12084025 C1S complement C1s gene DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 ISO RGD:1605130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 PMID:27745832 12084025 C1S complement C1s gene DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 ISO RGD:1605130 D RGD:7240710 20190315 OMIM 12084025 C1S complement C1s gene DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 ISO RGD:1605130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 PMID:25741868|PMID:27745832|PMID:28492532 12084025 C1S complement C1s gene DOID:0111621 Temtamy syndrome ISO RGD:1605130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12084025 C1S complement C1s gene DOID:2048 autoimmune hepatitis ISO RGD:1605130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11390518 12084025 C1S complement C1s gene DOID:417 autoimmune disease ISO RGD:1605130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11390518 12084025 C1S complement C1s gene DOID:630 genetic disease ISO RGD:1605130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12084025 C1S complement C1s gene DOID:9006194 Complement Component C1s Deficiency ISO RGD:1605130 D RGD:7240710 20180130 OMIM 12084025 C1S complement C1s gene DOID:9006194 Complement Component C1s Deficiency ISO RGD:1605130 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Complement component C1s deficiency PMID:11390518|PMID:25741868|PMID:28492532 12084025 C1S complement C1s gene DOID:9007355 Hashimoto Disease ISO RGD:1605130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11390518 12084025 C1S complement C1s gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12084043 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:0060240 UV-sensitive syndrome ISO RGD:1601889 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12084043 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1601889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:19384974|PMID:20571988|PMID:21924235|PMID:22099533|PMID:25741868|PMID:27597947|PMID:28492532 12084043 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:0080907 Cockayne syndrome A ISO RGD:1601889 D RGD:7240710 20180130 OMIM 12084043 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:0080907 Cockayne syndrome A ISO RGD:1601889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cockayne syndrome type 1 | ClinVar Annotator: match by term: Cockayne syndrome type 1 PMID:14661080|PMID:15744458|PMID:16199547|PMID:16865293|PMID:16949367|PMID:17576681|PMID:18414213|PMID:18695064|PMID:19309286|PMID:19329487|PMID:19384974|PMID:19894250|PMID:20571988|PMID:21108394|PMID:21681106|PMID:21924235|PMID:22099533|PMID:22829088|PMID:24033266|PMID:25333069|PMID:25525159|PMID:25741868|PMID:26173784|PMID:26616585|PMID:27004399|PMID:27597947|PMID:28492532|PMID:29057985|PMID:29422660|PMID:29531219|PMID:29572252|PMID:29742419|PMID:30182135|PMID:30200888|PMID:30871974|PMID:31319225|PMID:32048102|PMID:32404165|PMID:32557569|PMID:33199595|PMID:7664335|PMID:9338586|PMID:9536098 12084043 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1601889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:19384974|PMID:20571988|PMID:21924235|PMID:22099533|PMID:25741868|PMID:27597947|PMID:28492532 12084043 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:0112075 nuclear type mitochondrial complex I deficiency 10 ISO RGD:1601889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 PMID:19384974|PMID:20571988|PMID:21924235|PMID:22099533|PMID:25741868|PMID:27597947|PMID:28492532 12084043 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:10003 sensorineural hearing loss ISO RGD:1553774 D RGD:9068941 20200609 RGD associated with Cockayne Syndrome PMID:25762674|REF_RGD_ID:11567237 12084043 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:2962 Cockayne syndrome ISO RGD:1601889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism PMID:14661080|PMID:15744458|PMID:19309286|PMID:19329487|PMID:19894250|PMID:24033266|PMID:25333069|PMID:25741868|PMID:28492532|PMID:29572252|PMID:30182135|PMID:30871974|PMID:32404165 12084043 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:3652 Leigh disease ISO RGD:1601889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:25741868|PMID:28492532 12084043 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:5679 retinal disease ISO RGD:1553774 D RGD:9068941 20200609 RGD PMID:17145777|REF_RGD_ID:10401109 12084043 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1601889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 12084043 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:630 genetic disease ISO RGD:1601889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11814058|PMID:16865293|PMID:19894250|PMID:25741868|PMID:28492532 12084043 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:9000316 UV-Sensitive Syndrome 2 ISO RGD:1601889 D RGD:7240710 20180130 OMIM 12084043 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:9000316 UV-Sensitive Syndrome 2 ISO RGD:1601889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: UV-sensitive syndrome 2 PMID:18414213|PMID:19329487|PMID:25741868|PMID:28492532 12084043 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1601889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:28492532 12084043 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12084043 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:9006534 Nervous System Malformations ISO RGD:1601889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16199547|PMID:19894250|PMID:25741868|PMID:28492532|PMID:29572252 12084061 POU2AF1 POU class 2 homeobox associating factor 1 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1323347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 12084061 POU2AF1 POU class 2 homeobox associating factor 1 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1323347 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 12084061 POU2AF1 POU class 2 homeobox associating factor 1 gene DOID:1059 intellectual disability ISO RGD:1323347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12084061 POU2AF1 POU class 2 homeobox associating factor 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1323347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12084061 POU2AF1 POU class 2 homeobox associating factor 1 gene DOID:630 genetic disease ISO RGD:1323347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084061 POU2AF1 POU class 2 homeobox associating factor 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1323347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12084061 POU2AF1 POU class 2 homeobox associating factor 1 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1323347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 12084073 TOP3A DNA topoisomerase III alpha gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1319604 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 12084073 TOP3A DNA topoisomerase III alpha gene DOID:0050777 Joubert syndrome ISO RGD:1319604 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12084073 TOP3A DNA topoisomerase III alpha gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1319604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12084073 TOP3A DNA topoisomerase III alpha gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1319604 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12084073 TOP3A DNA topoisomerase III alpha gene DOID:0111524 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 ISO RGD:1319604 D RGD:7240710 20190821 OMIM 12084073 TOP3A DNA topoisomerase III alpha gene DOID:0111524 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 ISO RGD:1319604 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 PMID:25741868|PMID:28492532|PMID:29290614 12084073 TOP3A DNA topoisomerase III alpha gene DOID:10003 sensorineural hearing loss ISO RGD:1319604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 12084073 TOP3A DNA topoisomerase III alpha gene DOID:12849 autistic disorder ISO RGD:1319604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12084073 TOP3A DNA topoisomerase III alpha gene DOID:630 genetic disease ISO RGD:1319604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12084073 TOP3A DNA topoisomerase III alpha gene DOID:700 mitochondrial metabolism disease ISO RGD:1319604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:29290614 12084073 TOP3A DNA topoisomerase III alpha gene DOID:9009217 Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 ISO RGD:1319604 D RGD:7240710 20190315 OMIM 12084073 TOP3A DNA topoisomerase III alpha gene DOID:9009217 Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 ISO RGD:1319604 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly, growth restriction, and increased sister chromatid exchange 2 PMID:25741868|PMID:28492532|PMID:30057030 12084098 TMEM106A transmembrane protein 106A gene DOID:0080600 COVID-19 ISO RGD:1603282 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12084098 TMEM106A transmembrane protein 106A gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:19894111|PMID:23996866|PMID:24686251|PMID:28492532 12084098 TMEM106A transmembrane protein 106A gene DOID:630 genetic disease ISO RGD:1603282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084098 TMEM106A transmembrane protein 106A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603282 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12084120 GRB10 growth factor receptor bound protein 10 gene DOID:0080600 COVID-19 ISO RGD:1352618 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12084120 GRB10 growth factor receptor bound protein 10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12084120 GRB10 growth factor receptor bound protein 10 gene DOID:630 genetic disease ISO RGD:1352618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084156 BARX2 BARX homeobox 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1350102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12084156 BARX2 BARX homeobox 2 gene DOID:5419 schizophrenia ISO RGD:1350102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12084156 BARX2 BARX homeobox 2 gene DOID:630 genetic disease ISO RGD:1350102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084156 BARX2 BARX homeobox 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12084156 BARX2 BARX homeobox 2 gene DOID:9007661 Dwarfism ISO RGD:1350102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12084164 SPO11 SPO11 initiator of meiotic double stranded breaks gene DOID:0070168 spermatogenic failure 3 ISO RGD:1315081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 12084164 SPO11 SPO11 initiator of meiotic double stranded breaks gene DOID:630 genetic disease ISO RGD:1315081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084194 CFAP300 cilia and flagella associated protein 300 gene DOID:0050545 visceral heterotaxy ISO RGD:1605606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Situs ambiguus 12084194 CFAP300 cilia and flagella associated protein 300 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 12084194 CFAP300 cilia and flagella associated protein 300 gene DOID:0111852 primary ciliary dyskinesia 38 ISO RGD:1605606 D RGD:7240710 20190315 OMIM 12084194 CFAP300 cilia and flagella associated protein 300 gene DOID:0111852 primary ciliary dyskinesia 38 ISO RGD:1605606 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 38 PMID:25741868|PMID:28492532|PMID:29727692|PMID:29727693 12084194 CFAP300 cilia and flagella associated protein 300 gene DOID:1059 intellectual disability ISO RGD:1605606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12084194 CFAP300 cilia and flagella associated protein 300 gene DOID:12704 ataxia telangiectasia ISO RGD:1605606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12084194 CFAP300 cilia and flagella associated protein 300 gene DOID:758 situs inversus ISO RGD:1605606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 12084207 MYOD1 myogenic differentiation 1 gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:1353183 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:31260566 12084207 MYOD1 myogenic differentiation 1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1353183 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 12084207 MYOD1 myogenic differentiation 1 gene DOID:1059 intellectual disability ISO RGD:1353183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12084207 MYOD1 myogenic differentiation 1 gene DOID:10763 hypertension ISO RGD:631429 D RGD:9068941 20200609 RGD mRNA:decreased expression:gastrocnemius PMID:22076133|REF_RGD_ID:9686076 12084207 MYOD1 myogenic differentiation 1 gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1353183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24793135 12084207 MYOD1 myogenic differentiation 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1353183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258934 12084207 MYOD1 myogenic differentiation 1 gene DOID:422 congenital structural myopathy ISO RGD:1353183 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:31260566 12084207 MYOD1 myogenic differentiation 1 gene DOID:6000 congestive heart failure treatment ISO RGD:631429 D RGD:9068941 20200609 RGD associated with Aortic Valve Stenosis PMID:20060348|REF_RGD_ID:9686081 12084207 MYOD1 myogenic differentiation 1 gene DOID:630 genetic disease ISO RGD:1353183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084207 MYOD1 myogenic differentiation 1 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:1353183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258934 12084207 MYOD1 myogenic differentiation 1 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:631429 D RGD:9068941 20200609 RGD PMID:23781298|REF_RGD_ID:9686078 12084207 MYOD1 myogenic differentiation 1 gene DOID:9008444 Skeletal Muscle Injuries treatment ISO RGD:631429 D RGD:9068941 20200609 RGD PMID:19754672|REF_RGD_ID:9686075 12084207 MYOD1 myogenic differentiation 1 gene DOID:9009026 Congenital Myopathy 17 ISO RGD:1353183 D RGD:7240710 20201216 OMIM 12084207 MYOD1 myogenic differentiation 1 gene DOID:9009026 Congenital Myopathy 17 ISO RGD:1353183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies PMID:25741868|PMID:26733463|PMID:30403323|PMID:31260566 12084207 MYOD1 myogenic differentiation 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:631429 D RGD:9068941 20200609 RGD mRNA:decreased expression:diaphragm PMID:21258934|REF_RGD_ID:9686080 12084207 MYOD1 myogenic differentiation 1 gene DOID:9970 obesity ISO RGD:631429 D RGD:9068941 20200609 RGD PMID:22349736|REF_RGD_ID:9686079 12084207 MYOD1 myogenic differentiation 1 gene DOID:9970 obesity ISO RGD:631429 D RGD:9068941 20200609 RGD mRNA:decreased expression:plantaris PMID:18508911|REF_RGD_ID:2313320 12084214 LOC612555 MAGI family member, X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12084214 LOC612555 MAGI family member, X-linked gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1605344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12084214 LOC612555 MAGI family member, X-linked gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1605344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12084214 LOC612555 MAGI family member, X-linked gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1605344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12084214 LOC612555 MAGI family member, X-linked gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1605344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12084214 LOC612555 MAGI family member, X-linked gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1605344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12084214 LOC612555 MAGI family member, X-linked gene DOID:12849 autistic disorder ISO RGD:1605344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12084214 LOC612555 MAGI family member, X-linked gene DOID:630 genetic disease ISO RGD:1605344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084243 LOC100687687 60S ribosomal protein L36a-like gene DOID:0050700 cardiomyopathy ISO RGD:7243252 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10666480|PMID:11531969|PMID:11668641|PMID:11828341|PMID:11889412|PMID:11914245|PMID:12175777|PMID:14635108|PMID:14680977|PMID:15091117|PMID:15702404|PMID:15712228|PMID:15776423|PMID:15806320|PMID:16232095|PMID:16533976|PMID:16595074|PMID:16754800|PMID:1677356|PMID:16773563|PMID:17040996|PMID:17532296|PMID:17555407|PMID:17804462|PMID:18003767|PMID:18057066|PMID:18154965|PMID:18205205|PMID:18297328|PMID:18596132|PMID:18830871|PMID:18849176|PMID:19373884|PMID:19621417|PMID:19823873|PMID:20031620|PMID:20110537|PMID:20122163|PMID:20360539|PMID:20464614|PMID:20716442|PMID:20821055|PMID:21062768|PMID:21092187|PMID:21229318|PMID:21517827|PMID:21549080|PMID:21598360|PMID:21683120|PMID:21890869|PMID:21946453|PMID:21972175|PMID:22205110|PMID:22226368|PMID:22336178|PMID:22437327|PMID:22551898|PMID:22682330|PMID:22805550|PMID:22905681|PMID:23109060|PMID:23219219|PMID:23306324|PMID:23332617|PMID:23393592|PMID:23430502|PMID:23430526|PMID:23465405|PMID:23568732|PMID:23608164|PMID:23677059|PMID:23818648|PMID:23922385|PMID:2393552|PMID:23935525|PMID:24015197|PMID:24033266|PMID:24082139|PMID:24365053|PMID:24380807|PMID:24386359|PMID:24395922|PMID:24582695|PMID:24661928|PMID:24784157|PMID:24829596|PMID:24980630|PMID:25040344|PMID:25078086|PMID:25179549|PMID:25382311|PMID:25468652|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26047621|PMID:26252393|PMID:26305465|PMID:26384850|PMID:26415523|PMID:26866599|PMID:26869469|PMID:26990548|PMID:27142856|PMID:27532257|PMID:27554049|PMID:27595546|PMID:27657681|PMID:27832731|PMID:27916943|PMID:27931613|PMID:28082092|PMID:28276057|PMID:28299312|PMID:28340804|PMID:2836863|PMID:28377241|PMID:28409012|PMID:28430823|PMID:28492532|PMID:28596458|PMID:28646478|PMID:28728877|PMID:28799081|PMID:28941980|PMID:28943383|PMID:28988177|PMID:29018006|PMID:29037082|PMID:29044343|PMID:29132836|PMID:29215092|PMID:29330335|PMID:29530533|PMID:29621274|PMID:29631605|PMID:29649853|PMID:29867742|PMID:29875425|PMID:29982630|PMID:30023289|PMID:30246259|PMID:30380558|PMID:30386727|PMID:30477121|PMID:30569317|PMID:30662066|PMID:30739116|PMID:30773290|PMID:31020198|PMID:31036492|PMID:31291414|PMID:31449323|PMID:31566927|PMID:31613176|PMID:31654629|PMID:31860127|PMID:31907047|PMID:31949022|PMID:31956509|PMID:31996269|PMID:32011328|PMID:32042454|PMID:32109691|PMID:32150461|PMID:32246457|PMID:32418857|PMID:32435590|PMID:32531501|PMID:33036343|PMID:33543778|PMID:6379599|PMID:7504405|PMID:7911050|PMID:8395937|PMID:8411052|PMID:8807334|PMID:8875188|PMID:8878432|PMID:9100224|PMID:9452111 12084243 LOC100687687 60S ribosomal protein L36a-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:7243252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12084243 LOC100687687 60S ribosomal protein L36a-like gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:7243252 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 12084243 LOC100687687 60S ribosomal protein L36a-like gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:7243252 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 12084243 LOC100687687 60S ribosomal protein L36a-like gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:7243252 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10208848|PMID:10838196|PMID:10916280|PMID:11322659|PMID:11668641|PMID:11688386|PMID:12428061|PMID:15702404|PMID:15806320|PMID:16533976|PMID:16595074|PMID:16773563|PMID:17040996|PMID:17532296|PMID:17804462|PMID:18154965|PMID:18596132|PMID:20031620|PMID:20360539|PMID:20505683|PMID:21549080|PMID:21598360|PMID:2171331|PMID:22241068|PMID:22805550|PMID:23219219|PMID:23378663|PMID:23430526|PMID:23935525|PMID:24033266|PMID:24082139|PMID:24380807|PMID:24386359|PMID:24784157|PMID:25040344|PMID:25382311|PMID:25611685|PMID:25741868|PMID:27142856|PMID:27356758|PMID:27560961|PMID:27832731|PMID:28382085|PMID:28492532|PMID:28799081|PMID:29121657|PMID:29867742|PMID:29982630|PMID:30804731|PMID:31613176|PMID:31949022|PMID:31956509|PMID:31996269|PMID:32011328|PMID:32418857|PMID:8738659|PMID:8878432|PMID:9100224|PMID:9395081|PMID:9883849 12084243 LOC100687687 60S ribosomal protein L36a-like gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:7243252 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10208848|PMID:10838196|PMID:10916280|PMID:11322659|PMID:11668641|PMID:11688386|PMID:12428061|PMID:15702404|PMID:15806320|PMID:16533976|PMID:16595074|PMID:16773563|PMID:17040996|PMID:17532296|PMID:17804462|PMID:18154965|PMID:18596132|PMID:20031620|PMID:20360539|PMID:20505683|PMID:21549080|PMID:21598360|PMID:2171331|PMID:22241068|PMID:22805550|PMID:23219219|PMID:23378663|PMID:23430526|PMID:23935525|PMID:24033266|PMID:24082139|PMID:24380807|PMID:24386359|PMID:24784157|PMID:25040344|PMID:25382311|PMID:25611685|PMID:25741868|PMID:26415523|PMID:27142856|PMID:27356758|PMID:27560961|PMID:27832731|PMID:27916943|PMID:28253518|PMID:28382085|PMID:28492532|PMID:28728877|PMID:28799081|PMID:29121657|PMID:29794742|PMID:29867742|PMID:29982630|PMID:30804731|PMID:31613176|PMID:31949022|PMID:31956509|PMID:31996269|PMID:32011328|PMID:32418857|PMID:33495303|PMID:8738659|PMID:8878432|PMID:9100224|PMID:9395081|PMID:9883849 12084243 LOC100687687 60S ribosomal protein L36a-like gene DOID:1184 nephrotic syndrome ISO RGD:7243252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:29127259 12084243 LOC100687687 60S ribosomal protein L36a-like gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:7243252 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10208848|PMID:10666480|PMID:11531969|PMID:11668641|PMID:11828341|PMID:11914245|PMID:12175777|PMID:14635108|PMID:14680977|PMID:15003450|PMID:15091117|PMID:15702404|PMID:15712228|PMID:15806320|PMID:16232095|PMID:16754800|PMID:16773563|PMID:17555407|PMID:18057066|PMID:18154965|PMID:18297328|PMID:18849176|PMID:19373884|PMID:19621417|PMID:19823873|PMID:20031620|PMID:20110537|PMID:20122163|PMID:20360539|PMID:20464614|PMID:20821055|PMID:21062768|PMID:21092187|PMID:21229318|PMID:21517827|PMID:21598360|PMID:21683120|PMID:21972175|PMID:22226368|PMID:22437327|PMID:22682330|PMID:23109060|PMID:23219219|PMID:23332617|PMID:23393592|PMID:23430502|PMID:23568732|PMID:23677059|PMID:23818648|PMID:23935525|PMID:24033266|PMID:24386359|PMID:24582695|PMID:24829596|PMID:24980630|PMID:25078086|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26047621|PMID:26384850|PMID:26415523|PMID:26866599|PMID:26869469|PMID:27532257|PMID:27554049|PMID:27595546|PMID:27832731|PMID:27931613|PMID:28082092|PMID:28276057|PMID:28377241|PMID:28430823|PMID:28492532|PMID:28943383|PMID:28988177|PMID:29018006|PMID:29037082|PMID:29044343|PMID:29215092|PMID:29530533|PMID:29621274|PMID:29631605|PMID:29649853|PMID:29875425|PMID:30023289|PMID:30380558|PMID:30386727|PMID:30477121|PMID:30662066|PMID:31020198|PMID:31613176|PMID:31996269|PMID:32042454|PMID:32109691|PMID:32246457|PMID:32435590|PMID:33543778|PMID:7504405|PMID:7911050|PMID:8395937|PMID:8411052|PMID:8878432|PMID:9452111 12084243 LOC100687687 60S ribosomal protein L36a-like gene DOID:12849 autistic disorder ISO RGD:7243252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12084243 LOC100687687 60S ribosomal protein L36a-like gene DOID:14499 Fabry disease ISO RGD:7243252 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Anderson-Fabry disease | ClinVar Annotator: match by term: Angiokeratoma corporis diffusum | ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease PMID:10090526|PMID:10200059|PMID:10208848|PMID:10360396|PMID:10649504|PMID:10666480|PMID:10838196|PMID:10916280|PMID:11076046|PMID:11137837|PMID:11145098|PMID:11179018|PMID:11295840|PMID:11322659|PMID:11531969|PMID:11531972|PMID:11668641|PMID:11688386|PMID:11804208|PMID:11828341|PMID:11889412|PMID:11914245|PMID:12068026|PMID:12175777|PMID:12207598|PMID:12359124|PMID:12428061|PMID:12429061|PMID:12480979|PMID:12512750|PMID:12668521|PMID:12694230|PMID:12778775|PMID:12786754|PMID:12796853|PMID:12911529|PMID:12920095|PMID:12938095|PMID:1315304|PMID:1315715|PMID:14635108|PMID:14680977|PMID:15003450|PMID:15091117|PMID:15100373|PMID:15162124|PMID:15339079|PMID:15353880|PMID:15492942|PMID:15611419|PMID:15695328|PMID:15702403|PMID:15702404|PMID:15712228|PMID:15713906|PMID:15776423|PMID:15806320|PMID:15924232|PMID:15947062|PMID:16148726|PMID:16199547|PMID:16215932|PMID:16224739|PMID:16232095|PMID:1650161|PMID:16533976|PMID:16595074|PMID:16626582|PMID:16720462|PMID:16754800|PMID:1677356|PMID:16773563|PMID:17040996|PMID:17057070|PMID:17206462|PMID:17224688|PMID:17437606|PMID:17452128|PMID:17532296|PMID:1753437|PMID:17555407|PMID:17576681|PMID:17656478|PMID:17713670|PMID:17804462|PMID:18003767|PMID:18023222|PMID:18046674|PMID:18057066|PMID:18154965|PMID:18154966|PMID:18205205|PMID:18287059|PMID:18297328|PMID:18387337|PMID:18424138|PMID:1846223|PMID:18472290|PMID:18555667|PMID:18596132|PMID:18633574|PMID:18698230|PMID:18724168|PMID:18830871|PMID:18849176|PMID:18974770|PMID:19265719|PMID:19285316|PMID:19287194|PMID:19320660|PMID:19373884|PMID:19387866|PMID:19621417|PMID:19823873|PMID:19941952|PMID:20022777|PMID:20031620|PMID:20110537|PMID:20122163|PMID:20139917|PMID:20300124|PMID:20360539|PMID:20367968|PMID:20464614|PMID:20498269|PMID:20505683|PMID:20615758|PMID:20628902|PMID:20629180|PMID:20716442|PMID:20821055|PMID:21062768|PMID:21092187|PMID:21138548|PMID:21229318|PMID:21333496|PMID:21353612|PMID:21517827|PMID:2152885|PMID:21549080|PMID:21587323|PMID:21598360|PMID:2160973|PMID:21683120|PMID:21700093|PMID:2171331|PMID:21804088|PMID:21890869|PMID:21896204|PMID:21946453|PMID:21972175|PMID:22004918|PMID:22063097|PMID:22078290|PMID:22176145|PMID:22205110|PMID:22226368|PMID:22227322|PMID:22241068|PMID:22305854|PMID:22336178|PMID:22378313|PMID:22437327|PMID:22472932|PMID:22498845|PMID:22551898|PMID:22563919|PMID:22682330|PMID:22695894|PMID:22773828|PMID:22805550|PMID:22874111|PMID:22880956|PMID:22905681|PMID:23109060|PMID:23146289|PMID:23210910|PMID:23219219|PMID:23248976|PMID:23305247|PMID:23306324|PMID:23307880|PMID:23332617|PMID:23378663|PMID:23387234|PMID:23393592|PMID:23430502|PMID:23430526|PMID:23430848|PMID:23430946|PMID:23465405|PMID:23474038|PMID:23537685|PMID:23566439|PMID:23568732|PMID:23591357|PMID:23608164|PMID:23677059|PMID:23691425|PMID:23724928|PMID:23756194|PMID:23818648|PMID:23826564|PMID:23867994|PMID:23913314|PMID:23922385|PMID:2393552|PMID:23935525|PMID:23980562|PMID:24015197|PMID:24033266|PMID:24082139|PMID:24094560|PMID:24236025|PMID:24334114|PMID:24365053|PMID:24380807|PMID:24386359|PMID:24395922|PMID:24503780|PMID:24582695|PMID:24613481|PMID:24626231|PMID:24626659|PMID:24661928|PMID:24718812|PMID:24784157|PMID:24829596|PMID:24830310|PMID:24980630|PMID:25026990|PMID:25040344|PMID:25078086|PMID:25149322|PMID:25179549|PMID:25319043|PMID:25382311|PMID:25386848|PMID:2539398|PMID:25409744|PMID:25439755|PMID:25468650|PMID:25468652|PMID:25487570|PMID:25511234|PMID:25525159|PMID:25531941|PMID:25596309|PMID:25611685|PMID:25619383|PMID:25637381|PMID:25640679|PMID:25655062|PMID:25663229|PMID:25741868|PMID:25750198|PMID:25762495|PMID:25772321|PMID:25795794|PMID:25835592|PMID:25900714|PMID:25955246|PMID:25974833|PMID:25977923|PMID:26044846|PMID:26047621|PMID:26070511|PMID:26083343|PMID:26179544|PMID:26238931|PMID:26252393|PMID:26272908|PMID:26297554|PMID:26298600|PMID:26305465|PMID:26333625|PMID:26384850|PMID:26415523|PMID:26424312|PMID:26456105|PMID:26490103|PMID:26563328|PMID:26593248|PMID:26629990|PMID:26631895|PMID:26652600 12084243 LOC100687687 60S ribosomal protein L36a-like gene DOID:14499 Fabry disease ISO RGD:7243252 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Anderson-Fabry disease | ClinVar Annotator: match by term: Angiokeratoma corporis diffusum | ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease PMID:26691501|PMID:26866599|PMID:26869469|PMID:26937405|PMID:26990548|PMID:27081853|PMID:27083555|PMID:27129690|PMID:27142856|PMID:27160240|PMID:27211852|PMID:27225851|PMID:27238910|PMID:27356758|PMID:27431810|PMID:2744760|PMID:27531472|PMID:27532257|PMID:27554049|PMID:27560961|PMID:27576502|PMID:27585509|PMID:27595546|PMID:27629047|PMID:27657681|PMID:27773586|PMID:27825144|PMID:27831900|PMID:27832731|PMID:27834756|PMID:27896102|PMID:27896103|PMID:27916943|PMID:27931613|PMID:27979989|PMID:27992580|PMID:28069318|PMID:28082092|PMID:28253518|PMID:28275245|PMID:28276057|PMID:28299312|PMID:28302345|PMID:28340691|PMID:28340804|PMID:28360401|PMID:2836863|PMID:28377241|PMID:28382085|PMID:28389313|PMID:28409012|PMID:28430823|PMID:28492532|PMID:28496025|PMID:28500230|PMID:28596458|PMID:28615118|PMID:28625968|PMID:28646478|PMID:28649509|PMID:28672034|PMID:28682471|PMID:28723748|PMID:28728877|PMID:28736719|PMID:28749998|PMID:28756410|PMID:28768754|PMID:28771489|PMID:28798024|PMID:28799081|PMID:28877708|PMID:28941980|PMID:28943383|PMID:28964554|PMID:28977874|PMID:28988177|PMID:29018006|PMID:29019163|PMID:29037082|PMID:29044343|PMID:29079200|PMID:29121657|PMID:29132836|PMID:29186537|PMID:29203563|PMID:29215092|PMID:29227985|PMID:29247119|PMID:29305833|PMID:29307789|PMID:29326878|PMID:29330335|PMID:29361493|PMID:29437868|PMID:29476735|PMID:29487688|PMID:29491734|PMID:29530533|PMID:29543226|PMID:29621274|PMID:29631605|PMID:29649853|PMID:29661900|PMID:29688992|PMID:29688998|PMID:29770213|PMID:29794742|PMID:29853467|PMID:29867742|PMID:29875425|PMID:29982630|PMID:30023289|PMID:30038331|PMID:30064518|PMID:30093709|PMID:30103270|PMID:30201457|PMID:30246259|PMID:30261035|PMID:30380558|PMID:30385651|PMID:30386727|PMID:30474596|PMID:30477121|PMID:30497360|PMID:30568064|PMID:30569317|PMID:30571380|PMID:30594474|PMID:30644091|PMID:30658922|PMID:30662066|PMID:30677769|PMID:30715505|PMID:30739116|PMID:30762167|PMID:30773290|PMID:30804731|PMID:30834538|PMID:30853972|PMID:30972193|PMID:30985853|PMID:30988410|PMID:31010832|PMID:31020198|PMID:31036492|PMID:31065389|PMID:31200018|PMID:31213654|PMID:31243236|PMID:31291414|PMID:31319156|PMID:31321922|PMID:31372342|PMID:31392112|PMID:31446751|PMID:31449323|PMID:31519519|PMID:31566927|PMID:31613176|PMID:31620600|PMID:31634893|PMID:31649303|PMID:31650418|PMID:31654629|PMID:31664448|PMID:31860127|PMID:31907047|PMID:31949022|PMID:31956509|PMID:31996269|PMID:32011328|PMID:32023956|PMID:32036093|PMID:32042454|PMID:32099817|PMID:32109691|PMID:32127409|PMID:32150461|PMID:32161151|PMID:32203225|PMID:32246457|PMID:32306159|PMID:32418857|PMID:32435590|PMID:32442237|PMID:32486191|PMID:32531501|PMID:32583479|PMID:32699723|PMID:32714835|PMID:32719972|PMID:32789421|PMID:32793709|PMID:32797665|PMID:32802993|PMID:32813676|PMID:32901917|PMID:32995357|PMID:33016649|PMID:33036343|PMID:33040545|PMID:33072983|PMID:33204599|PMID:33437642|PMID:33495303|PMID:33527381|PMID:33543778|PMID:33545641|PMID:33673806|PMID:33907643|PMID:34199132|PMID:34205365|PMID:34270679|PMID:34401344|PMID:34679477|PMID:34803097|PMID:34905550|PMID:36156392|PMID:6379599|PMID:7504405|PMID:7531540|PMID:7575533|PMID:7596372|PMID:7599642|PMID:7911050|PMID:7951217|PMID:8012363|PMID:8069316|PMID:8395937|PMID:8411052|PMID:8738659|PMID:8768754|PMID:8807334|PMID:8834244|PMID:8863162|PMID:8875188|PMID:8878432|PMID:8931708|PMID:8996967|PMID:9100224|PMID:9105656|PMID:9116979|PMID:9268104|PMID:9395081|PMID:9452068|PMID:9452090|PMID:9452111|PMID:9536098|PMID:9554750|PMID:9883849 12084243 LOC100687687 60S ribosomal protein L36a-like gene DOID:2303 stereotypic movement disorder ISO RGD:7243252 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:20308327|PMID:24033266|PMID:25741868|PMID:27545675|PMID:29938792|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778|PMID:33504798|PMID:33728377|PMID:34008892|PMID:34907471 12084243 LOC100687687 60S ribosomal protein L36a-like gene DOID:630 genetic disease ISO RGD:7243252 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20308327|PMID:24033266|PMID:25741868|PMID:27545675|PMID:28492532|PMID:29938792|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778|PMID:33504798|PMID:33728377|PMID:34008892|PMID:34907471 12084243 LOC100687687 60S ribosomal protein L36a-like gene DOID:9000020 Fabry Disease, Cardiac Variant ISO RGD:7243252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fabry disease, cardiac variant PMID:10208848|PMID:10838196|PMID:10916280|PMID:11322659|PMID:11688386|PMID:11828341|PMID:12428061|PMID:1315715|PMID:15702404|PMID:16773563|PMID:17532296|PMID:17555407|PMID:1846223|PMID:19287194|PMID:19621417|PMID:19823873|PMID:20031620|PMID:20505683|PMID:20821055|PMID:21598360|PMID:2171331|PMID:22241068|PMID:22437327|PMID:23109060|PMID:23378663|PMID:23935525|PMID:24033266|PMID:24386359|PMID:24980630|PMID:25382311|PMID:25611685|PMID:25741868|PMID:26869469|PMID:27356758|PMID:27554049|PMID:27560961|PMID:27585509|PMID:27595546|PMID:27931613|PMID:28082092|PMID:28377241|PMID:28430823|PMID:28492532|PMID:28728877|PMID:29215092|PMID:29875425|PMID:30380558|PMID:30386727|PMID:30662066|PMID:30804731|PMID:31200018|PMID:31519519|PMID:32099817|PMID:7596372|PMID:8738659|PMID:9100224|PMID:9395081|PMID:9883849 12084243 LOC100687687 60S ribosomal protein L36a-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:7243252 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:20308327|PMID:24033266|PMID:25741868|PMID:27545675|PMID:29938792|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778|PMID:33504798|PMID:33728377|PMID:34008892|PMID:34907471 12084243 LOC100687687 60S ribosomal protein L36a-like gene DOID:9007096 Stroke ISO RGD:7243252 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:26415523|PMID:27916943|PMID:28253518|PMID:28492532|PMID:28728877|PMID:29794742|PMID:33495303 12084243 LOC100687687 60S ribosomal protein L36a-like gene DOID:9007820 Sudden Death ISO RGD:7243252 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:11668641|PMID:11914245|PMID:14635108|PMID:14680977|PMID:15806320|PMID:16232095|PMID:16754800|PMID:18057066|PMID:18154965|PMID:18297328|PMID:19373884|PMID:20110537|PMID:20122163|PMID:20360539|PMID:20464614|PMID:21229318|PMID:21517827|PMID:22226368|PMID:23219219|PMID:23393592|PMID:23430502|PMID:24033266|PMID:24829596|PMID:25078086|PMID:25637381|PMID:25741868|PMID:26415523|PMID:27832731|PMID:28276057|PMID:28492532|PMID:28988177|PMID:29037082|PMID:29044343|PMID:29530533|PMID:29631605|PMID:32109691|PMID:32246457|PMID:33543778|PMID:7504405|PMID:9452111 12084243 LOC100687687 60S ribosomal protein L36a-like gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:7243252 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 12084243 LOC100687687 60S ribosomal protein L36a-like gene DOID:9008950 Syndromic X-Linked Mental Retardation, Bain Type ISO RGD:7243252 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE PMID:20308327|PMID:24033266|PMID:25741868|PMID:27545675|PMID:28492532|PMID:29938792|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778|PMID:33504798|PMID:33728377|PMID:34008892|PMID:34907471 12084250 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1323582 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 12084250 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1323582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12084250 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:0080600 COVID-19 ISO RGD:1323582 D RGD:9068941 20210122 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12084250 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:0110266 cataract 9 multiple types ISO RGD:1323582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12084250 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:12849 autistic disorder ISO RGD:1323582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12084250 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:14330 Parkinson's disease ISO RGD:1323582 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:27957685 12084250 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:224 transient cerebral ischemia ISO RGD:1311889 D RGD:9068941 20210122 RGD mRNA:increased expression:cerebral cortex PMID:16777714|REF_RGD_ID:10003026 12084250 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:3312 bipolar disorder ISO RGD:1323582 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:23602965 12084250 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:630 genetic disease ISO RGD:1323582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084250 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1323582 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12084250 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:9000998 Brain Injuries ISO RGD:1311889 D RGD:9068941 20210122 RGD mRNA, protein:increased expression:cerebral cortex, hippocampus PMID:20309649|REF_RGD_ID:9999437 12084250 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12084250 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1558477 D RGD:9068941 20210122 RGD PMID:24569808|REF_RGD_ID:9999438 12084250 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:9263 homocystinuria ISO RGD:1323582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12084250 TRPM2 transient receptor potential cation channel subfamily M member 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1323582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12084371 MTRF1L mitochondrial translation release factor 1 like gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1316759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:28492532 12084371 MTRF1L mitochondrial translation release factor 1 like gene DOID:630 genetic disease ISO RGD:1316759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084382 IRX5 iroquois homeobox 5 gene DOID:0050642 hypochromic microcytic anemia ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 12084382 IRX5 iroquois homeobox 5 gene DOID:0050777 Joubert syndrome ISO RGD:1320389 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:17558409|PMID:28492532 12084382 IRX5 iroquois homeobox 5 gene DOID:0081044 frontonasal dysplasia ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 12084382 IRX5 iroquois homeobox 5 gene DOID:10003 sensorineural hearing loss ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 12084382 IRX5 iroquois homeobox 5 gene DOID:11830 myopia ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 12084382 IRX5 iroquois homeobox 5 gene DOID:13714 anodontia ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 12084382 IRX5 iroquois homeobox 5 gene DOID:1400 lacrimal apparatus disease ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 12084382 IRX5 iroquois homeobox 5 gene DOID:1682 congenital heart disease ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 12084382 IRX5 iroquois homeobox 5 gene DOID:630 genetic disease ISO RGD:1320389 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12084382 IRX5 iroquois homeobox 5 gene DOID:850 lung disease ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21238641 12084382 IRX5 iroquois homeobox 5 gene DOID:9002589 Bone Fractures ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 12084382 IRX5 iroquois homeobox 5 gene DOID:9006817 Hamamy Syndrome ISO RGD:1320389 D RGD:7240710 20180130 OMIM 12084382 IRX5 iroquois homeobox 5 gene DOID:9006817 Hamamy Syndrome ISO RGD:1320389 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hamamy syndrome PMID:17230486|PMID:22581230|PMID:25741868|PMID:28492532|PMID:34899143 12084382 IRX5 iroquois homeobox 5 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 12084400 S100G S100 calcium binding protein G gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12084400 S100G S100 calcium binding protein G gene DOID:12849 autistic disorder ISO RGD:1344914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12084400 S100G S100 calcium binding protein G gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12084408 MIR199-3 microRNA mir-199-3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1352073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12084408 MIR199-3 microRNA mir-199-3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1352073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12084408 MIR199-3 microRNA mir-199-3 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1352073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12084408 MIR199-3 microRNA mir-199-3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1352073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12084408 MIR199-3 microRNA mir-199-3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352073 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver PMID:30536310|REF_RGD_ID:14694833 12084408 MIR199-3 microRNA mir-199-3 gene DOID:9206 Barrett's esophagus ISO RGD:1352073 D RGD:9068941 20220825 RGD miRNA:increased expression:esophagus (human) PMID:29906417|REF_RGD_ID:153344526 12084426 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12084426 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1347132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 12084426 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:12849 autistic disorder ISO RGD:1347132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12084426 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:2799 bronchiolitis obliterans ISO RGD:732736 D RGD:9068941 20200609 RGD PMID:17182591|REF_RGD_ID:4146242 12084426 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:2841 asthma ISO RGD:1347132 D RGD:9068941 20200609 RGD DNA:polymorphism: :1398A>G (human) PMID:17006604|REF_RGD_ID:4892639 12084426 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:2841 asthma ISO RGD:732736 D RGD:9068941 20200609 RGD PMID:11714828|PMID:18480254|REF_RGD_ID:4892647|REF_RGD_ID:4892654 12084426 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:2841 asthma ISO RGD:732736 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchus PMID:20383033|REF_RGD_ID:4892646 12084426 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:2841 asthma no_association ISO RGD:1347132 D RGD:9068941 20200609 RGD DNA:polymorphism: :1050C>T (human) PMID:10686479|REF_RGD_ID:4892655 12084426 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:2841 asthma no_association ISO RGD:1347132 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, 3' utr:-281T>G, 1365A>G (human) PMID:17392323|REF_RGD_ID:4892650 12084426 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1347132 D RGD:9068941 20200609 RGD DNA:SNP: :rs2250747 (human) PMID:19796199|REF_RGD_ID:4145601 12084426 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:3310 atopic dermatitis ISO RGD:1347132 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:14527737|REF_RGD_ID:8549525 12084426 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:418 systemic scleroderma no_association ISO RGD:1347132 D RGD:9068941 20200609 RGD DNA:SNP:intron:43163G>A (rs6646259) (human) PMID:22045834|REF_RGD_ID:8549502 12084426 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:630 genetic disease ISO RGD:1347132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084426 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:6432 pulmonary hypertension ISO RGD:1347132 D RGD:9068941 20200609 RGD PMID:20808962|REF_RGD_ID:4892610 12084426 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:6432 pulmonary hypertension ISO RGD:732736 D RGD:9068941 20200609 RGD PMID:20671265|REF_RGD_ID:4892611 12084426 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:8893 psoriasis ISO RGD:1347132 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:14527737|REF_RGD_ID:8549525 12084426 IL13RA1 interleukin 13 receptor subunit alpha 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 12084441 SLC1A3 solute carrier family 1 member 3 gene DOID:0050952 spastic ataxia ISO RGD:732126 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:26467025|PMID:28492532 12084441 SLC1A3 solute carrier family 1 member 3 gene DOID:0050994 episodic ataxia type 6 ISO RGD:732126 D RGD:7240710 20180130 OMIM 12084441 SLC1A3 solute carrier family 1 member 3 gene DOID:0050994 episodic ataxia type 6 ISO RGD:732126 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 6 PMID:16116111|PMID:19139306|PMID:23107647|PMID:24214974|PMID:25497598|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28472652|PMID:28492532|PMID:29062094|PMID:32741053 12084441 SLC1A3 solute carrier family 1 member 3 gene DOID:0080600 COVID-19 ISO RGD:732126 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12084441 SLC1A3 solute carrier family 1 member 3 gene DOID:12849 autistic disorder ISO RGD:732126 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11706102 12084441 SLC1A3 solute carrier family 1 member 3 gene DOID:13544 low tension glaucoma ISO RGD:736549 D RGD:9068941 20220825 MouseDO OMIM:606657 12084441 SLC1A3 solute carrier family 1 member 3 gene DOID:1826 epilepsy ISO RGD:732126 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19853022 12084441 SLC1A3 solute carrier family 1 member 3 gene DOID:630 genetic disease ISO RGD:732126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 12084441 SLC1A3 solute carrier family 1 member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12084441 SLC1A3 solute carrier family 1 member 3 gene DOID:9008086 Developmental Disabilities ISO RGD:732126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12084441 SLC1A3 solute carrier family 1 member 3 gene DOID:963 episodic ataxia ISO RGD:732126 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Hereditary episodic ataxia 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:0060335 autosomal dominant sideroblastic anemia 4 ISO RGD:1323451 D RGD:7240710 20190315 OMIM 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:0060335 autosomal dominant sideroblastic anemia 4 ISO RGD:1323451 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anemia, sideroblastic, 4 PMID:20817635|PMID:25741868|PMID:26491070|PMID:28492532|PMID:3653362 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1323451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323451 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:0080855 Parkinsonism ISO RGD:1311806 D RGD:9068941 20200609 RGD protein:decreased expression:striatum PMID:21542017|REF_RGD_ID:6784518 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1323451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:10652 Alzheimer's disease ISO RGD:1323451 D RGD:9068941 20200609 RGD PMID:17050040|REF_RGD_ID:10402560 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:10652 Alzheimer's disease ISO RGD:1323452 D RGD:9068941 20200609 RGD PMID:17050040|REF_RGD_ID:10402560 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:13141 uveitis ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21850155 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:14330 Parkinson's disease ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16565515 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:14330 Parkinson's disease ISO RGD:1323451 D RGD:9068941 20200609 RGD DNA:mutation:cds:A>T476(human) PMID:20817635|REF_RGD_ID:6784528 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:14330 Parkinson's disease ISO RGD:1323451 D RGD:9068941 20200609 RGD DNA:mutations:multiple: PMID:19657588|REF_RGD_ID:6784529 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:14330 Parkinson's disease ISO RGD:1323451 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:16565515|REF_RGD_ID:6784531 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:14330 Parkinson's disease disease_progression ISO RGD:1323451 D RGD:9068941 20200609 RGD PMID:18219256|REF_RGD_ID:6784530 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:2316 brain ischemia ISO RGD:1311806 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:7629893|REF_RGD_ID:6784525 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:417 autoimmune disease ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21850155 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:4450 renal cell carcinoma ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:630 genetic disease ISO RGD:1323451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:7148 rheumatoid arthritis ISO RGD:1323451 D RGD:9068941 20200609 RGD protein:increased expression:synovial cell: PMID:23739258|REF_RGD_ID:10402561 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:8955 sideroblastic anemia ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:9005930 Endotoxemia ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16741687 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:9006624 EVEN-PLUS SYNDROME ISO RGD:1323451 D RGD:7240710 20190315 OMIM 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:9006624 EVEN-PLUS SYNDROME ISO RGD:1323451 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: EPIPHYSEAL AND VERTEBRAL DYSPLASIA, MICROTIA, AND FLAT NOSE, PLUS ASSOCIATED MALFORMATIONS | ClinVar Annotator: match by term: Even-plus syndrome PMID:25741868|PMID:26598328|PMID:28492532 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323451 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12084455 HSPA9 heat shock protein family A (Hsp70) member 9 gene DOID:9007102 Myocardial Ischemia ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12084476 IRF2 interferon regulatory factor 2 gene DOID:0080600 COVID-19 ISO RGD:1312641 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12084476 IRF2 interferon regulatory factor 2 gene DOID:630 genetic disease ISO RGD:1312641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084476 IRF2 interferon regulatory factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1312641 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561517 12084501 ZNF330 zinc finger protein 330 gene DOID:630 genetic disease ISO RGD:1316746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084521 LENG8 leukocyte receptor cluster member 8 gene DOID:630 genetic disease ISO RGD:1314652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084551 RSPH6A radial spoke head 6 homolog A gene DOID:630 genetic disease ISO RGD:1344817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084565 RRAS2 RAS related 2 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1321899 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 12084565 RRAS2 RAS related 2 gene DOID:0112170 Noonan syndrome 12 ISO RGD:1321899 D RGD:7240710 20191030 OMIM 12084565 RRAS2 RAS related 2 gene DOID:0112170 Noonan syndrome 12 ISO RGD:1321899 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Noonan syndrome 12 PMID:25741868|PMID:28492532|PMID:31130282|PMID:31130285|PMID:8052619 12084565 RRAS2 RAS related 2 gene DOID:1059 intellectual disability ISO RGD:1321899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12084565 RRAS2 RAS related 2 gene DOID:3490 Noonan syndrome ISO RGD:1321899 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Noonan syndrome PMID:25741868|PMID:28492532|PMID:31130282|PMID:31130285|PMID:8052619 12084565 RRAS2 RAS related 2 gene DOID:630 genetic disease ISO RGD:1321899 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31130282|PMID:31130285 12084565 RRAS2 RAS related 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1321899 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147764 12084565 RRAS2 RAS related 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1321899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:25741868|PMID:31130282|PMID:31130285|PMID:8052619 12084584 ALCAM activated leukocyte cell adhesion molecule gene DOID:0080600 COVID-19 ISO RGD:733283 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12084584 ALCAM activated leukocyte cell adhesion molecule gene DOID:305 carcinoma ISO RGD:733283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12084584 ALCAM activated leukocyte cell adhesion molecule gene DOID:630 genetic disease ISO RGD:733283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084584 ALCAM activated leukocyte cell adhesion molecule gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12084584 ALCAM activated leukocyte cell adhesion molecule gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:619972 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 12084584 ALCAM activated leukocyte cell adhesion molecule gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12084608 CYBRD1 cytochrome b reductase 1 gene DOID:0080600 COVID-19 ISO RGD:1313951 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12084608 CYBRD1 cytochrome b reductase 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1313951 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12084608 CYBRD1 cytochrome b reductase 1 gene DOID:630 genetic disease ISO RGD:1313951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084616 MYO5B myosin VB gene DOID:0060775 microvillus inclusion disease ISO RGD:736652 D RGD:7240710 20180130 OMIM 12084616 MYO5B myosin VB gene DOID:0060775 microvillus inclusion disease ISO RGD:736652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital microvillous atrophy | ClinVar Annotator: match by term: Diarrhea with Microvillus Atrophy PMID:16199547|PMID:17576681|PMID:18724368|PMID:19006234|PMID:20186687|PMID:21206382|PMID:21282656|PMID:24014347|PMID:24033266|PMID:25111220|PMID:25741868|PMID:26553929|PMID:27242896|PMID:27532546|PMID:28027573|PMID:28492532|PMID:28899465|PMID:29266534|PMID:32304554|PMID:32888943|PMID:33525641|PMID:9536098 12084616 MYO5B myosin VB gene DOID:1059 intellectual disability ISO RGD:736652 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12084616 MYO5B myosin VB gene DOID:13250 diarrhea ISO RGD:736652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18724368 12084616 MYO5B myosin VB gene DOID:5295 intestinal disease ISO RGD:736652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18724368 12084616 MYO5B myosin VB gene DOID:630 genetic disease ISO RGD:736652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12084616 MYO5B myosin VB gene DOID:655 inherited metabolic disorder ISO RGD:736652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18724368 12084616 MYO5B myosin VB gene DOID:670 amphetamine abuse ISO RGD:736652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12084616 MYO5B myosin VB gene DOID:9003622 Progressive Familial Intrahepatic Cholestasis 10 ISO RGD:736652 D RGD:7240710 20220518 OMIM 12084616 MYO5B myosin VB gene DOID:9003622 Progressive Familial Intrahepatic Cholestasis 10 ISO RGD:736652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 10 PMID:18724368|PMID:20186687|PMID:25741868|PMID:27532546|PMID:28027573|PMID:28492532|PMID:32304554|PMID:33525641 12084616 MYO5B myosin VB gene DOID:9007188 Liver Neoplasms ISO RGD:736652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 12084659 UNC5CL unc-5 family C-terminal like gene DOID:630 genetic disease ISO RGD:1342658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084659 UNC5CL unc-5 family C-terminal like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12084678 ANO6 anoctamin 6 gene DOID:0050589 inflammatory bowel disease ISO RGD:1312398 D RGD:9068941 20200609 RGD associated with Spondylitis, Ankylosing;DNA:SNP: :rs17095830(human) PMID:23308121|REF_RGD_ID:9684849 12084678 ANO6 anoctamin 6 gene DOID:0111052 Scott syndrome IAGP D RGD:12801476 20210603 OMIA Scott Syndrome PMID:11895776|PMID:19854246|PMID:19351331|PMID:15761668|PMID:17723137|PMID:23061683|PMID:26414452 12084678 ANO6 anoctamin 6 gene DOID:0111052 Scott syndrome ISO RGD:1312398 D RGD:7240710 20180130 OMIM 12084678 ANO6 anoctamin 6 gene DOID:0111052 Scott syndrome ISO RGD:1312398 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SCOTT SYNDROME PMID:16199547|PMID:21107324|PMID:21511967|PMID:25741868|PMID:27879994|PMID:28492532|PMID:7989579 12084678 ANO6 anoctamin 6 gene DOID:630 genetic disease ISO RGD:1312398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12084678 ANO6 anoctamin 6 gene DOID:7147 ankylosing spondylitis ISO RGD:1312398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138694 12084678 ANO6 anoctamin 6 gene DOID:7147 ankylosing spondylitis severity ISO RGD:1312398 D RGD:9068941 20200609 RGD DNA:SNP: :rs17095830(human) PMID:23308121|REF_RGD_ID:9684849 12084678 ANO6 anoctamin 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12084707 LOC487175 protocadherin beta-14 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1322463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12084707 LOC487175 protocadherin beta-14 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1322463 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12084707 LOC487175 protocadherin beta-14 gene DOID:630 genetic disease ISO RGD:1322463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084707 LOC487175 protocadherin beta-14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12084707 LOC487175 protocadherin beta-14 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322463 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12084712 C1QC complement C1q C chain gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1315664 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 12084712 C1QC complement C1q C chain gene DOID:0060369 Parkinson's disease 6 ISO RGD:1315664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12084712 C1QC complement C1q C chain gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1315664 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:35789393 12084712 C1QC complement C1q C chain gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1315664 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12084712 C1QC complement C1q C chain gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1315664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12084712 C1QC complement C1q C chain gene DOID:0080600 COVID-19 ISO RGD:1315664 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12084712 C1QC complement C1q C chain gene DOID:1883 hepatitis C ISO RGD:1315664 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:35789393 12084712 C1QC complement C1q C chain gene DOID:630 genetic disease ISO RGD:1315664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12084712 C1QC complement C1q C chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12084712 C1QC complement C1q C chain gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1315664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12084712 C1QC complement C1q C chain gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:1315664 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:35789393 12084712 C1QC complement C1q C chain gene DOID:9007516 C1q Deficiency ISO RGD:1315664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: C1Q deficiency PMID:20635792|PMID:21654842|PMID:24157463|PMID:25741868|PMID:28082982|PMID:28492532|PMID:30008451|PMID:31357913|PMID:7029321|PMID:7900940|PMID:8630118 12084712 C1QC complement C1q C chain gene DOID:9007652 C1q Deficiency 3 ISO RGD:1315664 D RGD:7240710 20230505 OMIM 12084712 C1QC complement C1q C chain gene DOID:9007652 C1q Deficiency 3 ISO RGD:1315664 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: C1q deficiency 3 PMID:24157463|PMID:28492532|PMID:7029321|PMID:8630118 12084712 C1QC complement C1q C chain gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1315664 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 12084719 MTTP microsomal triglyceride transfer protein gene DOID:0060041 autism spectrum disorder ISO RGD:1318126 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12084719 MTTP microsomal triglyceride transfer protein gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1318126 D RGD:9068941 20200609 RGD PMID:15094225|REF_RGD_ID:1581245 12084719 MTTP microsomal triglyceride transfer protein gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1318126 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 12084719 MTTP microsomal triglyceride transfer protein gene DOID:10763 hypertension onset ISO RGD:1318126 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-493G>T PMID:16328015|REF_RGD_ID:1625485 12084719 MTTP microsomal triglyceride transfer protein gene DOID:1168 familial hyperlipidemia ISO RGD:1308388 D RGD:9068941 20200609 RGD PMID:12191589|REF_RGD_ID:1625489 12084719 MTTP microsomal triglyceride transfer protein gene DOID:1386 abetalipoproteinemia ISO RGD:1318126 D RGD:7240710 20190315 OMIM 12084719 MTTP microsomal triglyceride transfer protein gene DOID:1386 abetalipoproteinemia ISO RGD:1318126 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Abetalipoproteinemia | ClinVar Annotator: match by term: Betalipoprotein deficiency disease | ClinVar Annotator: match by term: MTP DEFICIENCY | ClinVar Annotator: match by term: Microsomal triglyceride transfer protein deficiency disease | ClinVar Annotator: match by term: Microsomal-triglyceride transfer protein deficiency PMID:10446076|PMID:10679949|PMID:10946006|PMID:12630961|PMID:1439810|PMID:16199547|PMID:16721486|PMID:17275380|PMID:17576681|PMID:18027103|PMID:18611256|PMID:20592474|PMID:21394827|PMID:22236406|PMID:23043934|PMID:23475612|PMID:24842304|PMID:25108285|PMID:25741868|PMID:27170061|PMID:27271787|PMID:27487388|PMID:27578136|PMID:28492532|PMID:28818680|PMID:2903181|PMID:30522860|PMID:32041611|PMID:33258201|PMID:7782284|PMID:8111381|PMID:8361539|PMID:8533758|PMID:8939939|PMID:9536098|PMID:9671739 12084719 MTTP microsomal triglyceride transfer protein gene DOID:14221 abdominal obesity-metabolic syndrome 1 ISO RGD:1318126 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 1 PMID:16199547|PMID:16721486|PMID:21394827|PMID:25741868|PMID:27578136|PMID:28492532|PMID:30522860|PMID:33258201|PMID:8533758|PMID:9671739 12084719 MTTP microsomal triglyceride transfer protein gene DOID:2018 hyperinsulinism susceptibility ISO RGD:1318126 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-493G>T PMID:11849654|REF_RGD_ID:1625490 12084719 MTTP microsomal triglyceride transfer protein gene DOID:630 genetic disease ISO RGD:1318126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12084719 MTTP microsomal triglyceride transfer protein gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1318126 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-493G>T PMID:15136504|REF_RGD_ID:1625487 12084719 MTTP microsomal triglyceride transfer protein gene DOID:9002123 Familial Hypobetalipoproteinemia, Apolipoprotein B ISO RGD:1318126 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Apolipoprotein B deficiency PMID:10446076|PMID:10679949|PMID:10946006|PMID:12630961|PMID:1439810|PMID:16199547|PMID:16721486|PMID:17275380|PMID:17576681|PMID:18027103|PMID:18611256|PMID:20592474|PMID:21394827|PMID:22236406|PMID:23043934|PMID:23475612|PMID:24842304|PMID:25108285|PMID:25741868|PMID:27170061|PMID:27271787|PMID:27487388|PMID:27578136|PMID:28492532|PMID:28818680|PMID:2903181|PMID:30522860|PMID:32041611|PMID:33258201|PMID:7782284|PMID:8111381|PMID:8361539|PMID:8533758|PMID:8939939|PMID:9536098|PMID:9671739 12084719 MTTP microsomal triglyceride transfer protein gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:1318126 D RGD:9068941 20200609 RGD PMID:17215532|REF_RGD_ID:1625482 12084719 MTTP microsomal triglyceride transfer protein gene DOID:9006098 Abetalipoproteinemia Neuropathy ISO RGD:1318126 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy PMID:10446076|PMID:10679949|PMID:10946006|PMID:12630961|PMID:1439810|PMID:16199547|PMID:16721486|PMID:17275380|PMID:17576681|PMID:18027103|PMID:18611256|PMID:20592474|PMID:21394827|PMID:22236406|PMID:23043934|PMID:23475612|PMID:24842304|PMID:25108285|PMID:25741868|PMID:27170061|PMID:27271787|PMID:27487388|PMID:27578136|PMID:28492532|PMID:28818680|PMID:2903181|PMID:30522860|PMID:32041611|PMID:33258201|PMID:7782284|PMID:8111381|PMID:8361539|PMID:8533758|PMID:8939939|PMID:9536098|PMID:9671739 12084719 MTTP microsomal triglyceride transfer protein gene DOID:9006646 Metabolic Syndrome ISO RGD:1318126 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Metabolic syndrome X | ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to PMID:16199547|PMID:16721486|PMID:21394827|PMID:25741868|PMID:27578136|PMID:28492532|PMID:30522860|PMID:33258201|PMID:8533758|PMID:9671739 12084719 MTTP microsomal triglyceride transfer protein gene DOID:9452 fatty liver disease ISO RGD:1318126 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303181 12084719 MTTP microsomal triglyceride transfer protein gene DOID:9452 fatty liver disease ISO RGD:1318126 D RGD:9068941 20200609 RGD associated with Hepatitis C;mRNA:decreased expression:liver PMID:16697730|REF_RGD_ID:1625483 12084719 MTTP microsomal triglyceride transfer protein gene DOID:9970 obesity susceptibility ISO RGD:1318126 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:15635487|REF_RGD_ID:1625486 12084744 CHRNA9 cholinergic receptor nicotinic alpha 9 subunit gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:733287 D RGD:9068941 20220128 RGD DNA:SNPs:multiples: PMID:22280835|REF_RGD_ID:151347453 12084744 CHRNA9 cholinergic receptor nicotinic alpha 9 subunit gene DOID:630 genetic disease ISO RGD:733287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084744 CHRNA9 cholinergic receptor nicotinic alpha 9 subunit gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:733287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 12084744 CHRNA9 cholinergic receptor nicotinic alpha 9 subunit gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30259641 12084751 RNF145 ring finger protein 145 gene DOID:630 genetic disease ISO RGD:1602832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084770 NECTIN1 nectin cell adhesion molecule 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1350722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12084770 NECTIN1 nectin cell adhesion molecule 1 gene DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome ISO RGD:1350722 D RGD:7240710 20180130 OMIM 12084770 NECTIN1 nectin cell adhesion molecule 1 gene DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome ISO RGD:1350722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome PMID:10932188|PMID:11559849|PMID:11756979|PMID:12893758|PMID:16195396|PMID:16674562|PMID:17089422|PMID:18223281|PMID:19132250|PMID:19715471|PMID:23560673|PMID:24560896|PMID:25741868|PMID:28492532|PMID:3035184 12084770 NECTIN1 nectin cell adhesion molecule 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1350722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12084770 NECTIN1 nectin cell adhesion molecule 1 gene DOID:0080400 orofacial cleft 7 ISO RGD:1350722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofacial cleft 7 PMID:10932188|PMID:11559849 12084770 NECTIN1 nectin cell adhesion molecule 1 gene DOID:0080690 RASopathy ISO RGD:1350722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12084770 NECTIN1 nectin cell adhesion molecule 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1350722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12084770 NECTIN1 nectin cell adhesion molecule 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1350722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12084770 NECTIN1 nectin cell adhesion molecule 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1350722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12084770 NECTIN1 nectin cell adhesion molecule 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1350722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12084770 NECTIN1 nectin cell adhesion molecule 1 gene DOID:2121 ectodermal dysplasia ISO RGD:1350722 D RGD:9068941 20200609 RGD cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X PMID:10932188|REF_RGD_ID:1599795 12084770 NECTIN1 nectin cell adhesion molecule 1 gene DOID:5419 schizophrenia ISO RGD:1350722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12084770 NECTIN1 nectin cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:1350722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084770 NECTIN1 nectin cell adhesion molecule 1 gene DOID:674 cleft palate ISO RGD:1350722 D RGD:9068941 20200609 RGD cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X PMID:10932188|REF_RGD_ID:1599795 12084770 NECTIN1 nectin cell adhesion molecule 1 gene DOID:8566 herpes simplex ISO RGD:1350722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10729168 12084770 NECTIN1 nectin cell adhesion molecule 1 gene DOID:9002834 Herpesviridae Infections ISO RGD:1350722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10932188 12084770 NECTIN1 nectin cell adhesion molecule 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12084770 NECTIN1 nectin cell adhesion molecule 1 gene DOID:9007661 Dwarfism ISO RGD:1350722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12084770 NECTIN1 nectin cell adhesion molecule 1 gene DOID:9296 cleft lip ISO RGD:1350722 D RGD:9068941 20200609 RGD cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X PMID:10932188|REF_RGD_ID:1599795 12084785 NTN1 netrin 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:735502 D RGD:9068941 20200609 RGD PMID:30066400|REF_RGD_ID:13782183 12084785 NTN1 netrin 1 gene DOID:4724 brain edema ISO RGD:735501 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29162556 12084785 NTN1 netrin 1 gene DOID:630 genetic disease ISO RGD:735501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084785 NTN1 netrin 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:735501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29162556 12084785 NTN1 netrin 1 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:735501 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29162556 12084785 NTN1 netrin 1 gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:619809 D RGD:9068941 20221201 RGD PMID:26670826|REF_RGD_ID:155663663 12084785 NTN1 netrin 1 gene DOID:9003768 Mirror Movements 4 ISO RGD:735501 D RGD:7240710 20190315 OMIM 12084785 NTN1 netrin 1 gene DOID:9003768 Mirror Movements 4 ISO RGD:735501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mirror movements 4 PMID:28945198 12084785 NTN1 netrin 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735501 D RGD:9068941 20230128 CTD CTD Direct Evidence: therapeutic PMID:35292334 12084785 NTN1 netrin 1 gene DOID:9296 cleft lip ISO RGD:735501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate 12084795 SLC44A5 solute carrier family 44 member 5 gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:1604721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:28492532 12084795 SLC44A5 solute carrier family 44 member 5 gene DOID:630 genetic disease ISO RGD:1604721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084831 KCNH5 potassium voltage-gated channel subfamily H member 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:17576681|PMID:23647072|PMID:24133262|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9536098 12084831 KCNH5 potassium voltage-gated channel subfamily H member 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731415 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:23647072|PMID:24133262|PMID:25741868|PMID:28492532|PMID:31440721|PMID:32725632|PMID:35874597|PMID:36307226|PMID:9536098 12084831 KCNH5 potassium voltage-gated channel subfamily H member 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731415 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:23647072|PMID:24133262|PMID:25741868|PMID:28492532|PMID:31440721|PMID:32725632|PMID:35874597|PMID:36307226|PMID:9536098 12084831 KCNH5 potassium voltage-gated channel subfamily H member 5 gene DOID:1826 epilepsy ISO RGD:731415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12084831 KCNH5 potassium voltage-gated channel subfamily H member 5 gene DOID:630 genetic disease ISO RGD:731415 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23647072|PMID:24133262|PMID:28492532|PMID:31440721|PMID:32725632|PMID:35874597|PMID:36307226 12084853 COPZ1 COPI coat complex subunit zeta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12084866 MAP3K12 mitogen-activated protein kinase kinase kinase 12 gene DOID:630 genetic disease ISO RGD:737536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084866 MAP3K12 mitogen-activated protein kinase kinase kinase 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12084893 CALML6 calmodulin like 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1346825 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12084893 CALML6 calmodulin like 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1346825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12084893 CALML6 calmodulin like 6 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1346825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12084893 CALML6 calmodulin like 6 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1346825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12084893 CALML6 calmodulin like 6 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1346825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12084893 CALML6 calmodulin like 6 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1346825 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12084893 CALML6 calmodulin like 6 gene DOID:0111934 immunodeficiency 38 ISO RGD:1346825 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12084893 CALML6 calmodulin like 6 gene DOID:0111935 immunodeficiency 16 ISO RGD:1346825 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12084893 CALML6 calmodulin like 6 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1346825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12084893 CALML6 calmodulin like 6 gene DOID:630 genetic disease ISO RGD:1346825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084893 CALML6 calmodulin like 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12084893 CALML6 calmodulin like 6 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1346825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12084893 CALML6 calmodulin like 6 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1346825 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12084928 NDUFA4L2 NDUFA4 mitochondrial complex associated like 2 gene DOID:630 genetic disease ISO RGD:1601990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084928 NDUFA4L2 NDUFA4 mitochondrial complex associated like 2 gene DOID:6846 familial melanoma ISO RGD:1601990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 12084928 NDUFA4L2 NDUFA4 mitochondrial complex associated like 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1601990 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 12084942 OR2G6 olfactory receptor family 2 subfamily G member 6 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1603468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12084942 OR2G6 olfactory receptor family 2 subfamily G member 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1603468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12084942 OR2G6 olfactory receptor family 2 subfamily G member 6 gene DOID:630 genetic disease ISO RGD:1603468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084942 OR2G6 olfactory receptor family 2 subfamily G member 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12084946 MB myoglobin gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1354197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12084946 MB myoglobin gene DOID:0080600 COVID-19 severity ISO RGD:1354197 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:32125452|REF_RGD_ID:27095965 12084946 MB myoglobin gene DOID:0080600 COVID-19 severity ISO RGD:1354197 D RGD:9068941 20200625 RGD associated with hyperglycemia;protein:increased expression:serum (human) PMID:32406594|REF_RGD_ID:32698682 12084946 MB myoglobin gene DOID:3021 acute kidney failure ISO RGD:1354197 D RGD:9068941 20200609 RGD protein: increased expression: serum PMID:23497406|REF_RGD_ID:7244253 12084946 MB myoglobin gene DOID:3021 acute kidney failure ISO RGD:620411 D RGD:9068941 20200609 RGD PMID:9822635|REF_RGD_ID:7244259 12084946 MB myoglobin gene DOID:630 genetic disease ISO RGD:1354197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084946 MB myoglobin gene DOID:9000528 Coronary Disease severity ISO RGD:1354197 D RGD:9068941 20200609 RGD PMID:15976963|REF_RGD_ID:1582388 12084946 MB myoglobin gene DOID:9000921 Crush Syndrome ISO RGD:620411 D RGD:9068941 20200609 RGD PMID:12558149|REF_RGD_ID:1582428 12084946 MB myoglobin gene DOID:9002669 Hypoxia ISO RGD:620411 D RGD:9068941 20200609 RGD PMID:12530625|REF_RGD_ID:1582429 12084946 MB myoglobin gene DOID:9004009 Reperfusion Injury ISO RGD:1354197 D RGD:9068941 20200609 RGD PMID:12788661|REF_RGD_ID:1582427 12084946 MB myoglobin gene DOID:9007102 Myocardial Ischemia ISO RGD:620411 D RGD:9068941 20200609 RGD PMID:12935692|REF_RGD_ID:1582426 12084946 MB myoglobin gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:1354197 D RGD:9068941 20200609 RGD PMID:15762290|REF_RGD_ID:1582393 12084946 MB myoglobin gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1552831 D RGD:9068941 20200609 RGD PMID:15132981|REF_RGD_ID:1582385 12084946 MB myoglobin gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620411 D RGD:9068941 20200609 RGD PMID:11972171|REF_RGD_ID:1582431 12084946 MB myoglobin gene DOID:9007848 Sarcoplasmic Body Myopathy ISO RGD:1354197 D RGD:7240710 20230505 OMIM 12084946 MB myoglobin gene DOID:9007848 Sarcoplasmic Body Myopathy ISO RGD:1354197 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, sarcoplasmic body PMID:25741868|PMID:30918256|PMID:34679218|PMID:35527200|PMID:6251174 12084953 MTHFSD methenyltetrahydrofolate synthetase domain containing gene DOID:0111985 immunodeficiency 32B ISO RGD:1604316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 32B PMID:28492532 12084953 MTHFSD methenyltetrahydrofolate synthetase domain containing gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1604316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12084953 MTHFSD methenyltetrahydrofolate synthetase domain containing gene DOID:630 genetic disease ISO RGD:1604316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12084965 SLC25A13 solute carrier family 25 member 13 gene DOID:0070340 classic citrullinemia ISO RGD:1323000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Citrullinemia 1 | ClinVar Annotator: match by term: Citrullinemia type I PMID:10369257|PMID:14680984|PMID:16199547|PMID:23022256|PMID:23053473|PMID:23067347|PMID:24069319|PMID:24586645|PMID:25216257|PMID:25741868|PMID:27405544|PMID:28492532|PMID:30887117|PMID:31180159|PMID:34704407|PMID:34800434|PMID:36599957 12084965 SLC25A13 solute carrier family 25 member 13 gene DOID:0070341 neonatal-onset type II citrullinemia ISO RGD:1323000 D RGD:7240710 20180130 OMIM 12084965 SLC25A13 solute carrier family 25 member 13 gene DOID:0070341 neonatal-onset type II citrullinemia ISO RGD:1323000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal intrahepatic cholestasis caused by citrin deficiency | ClinVar Annotator: match by term: Neonatal-onset citrullinemia type 2 | ClinVar Annotator: match by term: Neonatal-onset citrullinemia type II PMID:10369257|PMID:11153906|PMID:11281457|PMID:11343052|PMID:11343053|PMID:11793471|PMID:12424587|PMID:12512993|PMID:14680984|PMID:15050970|PMID:16059747|PMID:16199547|PMID:16449956|PMID:17576681|PMID:17880783|PMID:18367750|PMID:18392553|PMID:19036621|PMID:19470249|PMID:20301360|PMID:20927635|PMID:21134364|PMID:21424115|PMID:21507300|PMID:22710133|PMID:23022256|PMID:23053473|PMID:23067347|PMID:23430852|PMID:23701493|PMID:24069319|PMID:24161253|PMID:24327139|PMID:24586645|PMID:25110155|PMID:25216257|PMID:25741868|PMID:26852511|PMID:26858187|PMID:27347070|PMID:27405544|PMID:27577219|PMID:27578510|PMID:28492532|PMID:29651749|PMID:29659898|PMID:30887117|PMID:30904546|PMID:31180159|PMID:31450232|PMID:31845334|PMID:32962675|PMID:33497767|PMID:33763395|PMID:34006251|PMID:34704407|PMID:34800434|PMID:36599957|PMID:9536098 12084965 SLC25A13 solute carrier family 25 member 13 gene DOID:0070342 adult-onset type II citrullinemia ISO RGD:1323000 D RGD:7240710 20180130 OMIM 12084965 SLC25A13 solute carrier family 25 member 13 gene DOID:0070342 adult-onset type II citrullinemia ISO RGD:1323000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adult-onset citrullinemia type 2 | ClinVar Annotator: match by term: Citrin deficiency | ClinVar Annotator: match by term: Late-onset citrullinemia PMID:10369257|PMID:11153906|PMID:11281457|PMID:11343052|PMID:11343053|PMID:11793471|PMID:12409267|PMID:12424587|PMID:12512993|PMID:14680984|PMID:15050970|PMID:16059747|PMID:16199547|PMID:16311094|PMID:16449956|PMID:17576681|PMID:17880783|PMID:18392553|PMID:18487280|PMID:19036621|PMID:19185551|PMID:19470249|PMID:20301360|PMID:20376801|PMID:20927635|PMID:21134364|PMID:21424115|PMID:21507300|PMID:21914561|PMID:22575253|PMID:22710133|PMID:23022256|PMID:23053473|PMID:23067347|PMID:23430852|PMID:23701493|PMID:24069319|PMID:24161253|PMID:24586645|PMID:25110155|PMID:25216257|PMID:25365849|PMID:25381944|PMID:25640679|PMID:25741868|PMID:26852511|PMID:26858187|PMID:27347070|PMID:27405544|PMID:27577219|PMID:27578510|PMID:27706244|PMID:27779681|PMID:28492532|PMID:29651749|PMID:29659898|PMID:30703226|PMID:30887117|PMID:30904546|PMID:31180159|PMID:31450232|PMID:31607264|PMID:31845334|PMID:31980526|PMID:32962675|PMID:33497767|PMID:33763395|PMID:34006251|PMID:34704407|PMID:34800434|PMID:36599957|PMID:9536098 12084965 SLC25A13 solute carrier family 25 member 13 gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1323000 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM PMID:21507300|PMID:23053473|PMID:24069319|PMID:25741868|PMID:28492532 12084965 SLC25A13 solute carrier family 25 member 13 gene DOID:11372 megacolon ISO RGD:1323000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12084965 SLC25A13 solute carrier family 25 member 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12084965 SLC25A13 solute carrier family 25 member 13 gene DOID:630 genetic disease ISO RGD:1323000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18367750|PMID:18392553|PMID:25741868|PMID:28492532|PMID:36599957 12084965 SLC25A13 solute carrier family 25 member 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12084965 SLC25A13 solute carrier family 25 member 13 gene DOID:9002589 Bone Fractures ISO RGD:1323000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22504420 12084965 SLC25A13 solute carrier family 25 member 13 gene DOID:9009138 Citrullinemia Type 2 ISO RGD:1323000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Citrullinemia type 2 | ClinVar Annotator: match by term: Citrullinemia type II PMID:10369257|PMID:11153906|PMID:11281457|PMID:11343052|PMID:11343053|PMID:11793471|PMID:12424587|PMID:12512993|PMID:14680984|PMID:15050970|PMID:16059747|PMID:16199547|PMID:16449956|PMID:17576681|PMID:17880783|PMID:18367750|PMID:18392553|PMID:19036621|PMID:19470249|PMID:20301360|PMID:21134364|PMID:21424115|PMID:21507300|PMID:22575253|PMID:22710133|PMID:23022256|PMID:23053473|PMID:23067347|PMID:23430852|PMID:24069319|PMID:24161253|PMID:24586645|PMID:25216257|PMID:25365849|PMID:25741868|PMID:26852511|PMID:27347070|PMID:27405544|PMID:27577219|PMID:27578510|PMID:28492532|PMID:29659898|PMID:30887117|PMID:30904546|PMID:31180159|PMID:31450232|PMID:33763395|PMID:34006251|PMID:34704407|PMID:34800434|PMID:36599957|PMID:9536098 12084965 SLC25A13 solute carrier family 25 member 13 gene DOID:9273 citrullinemia ISO RGD:1323000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinuria PMID:10369257|PMID:11153906|PMID:11343052|PMID:11793471|PMID:12512993|PMID:14680984|PMID:15050970|PMID:16199547|PMID:16449956|PMID:17576681|PMID:18367750|PMID:18392553|PMID:19036621|PMID:19185551|PMID:20301360|PMID:20376801|PMID:20927635|PMID:21424115|PMID:23053473|PMID:23701493|PMID:24069319|PMID:25110155|PMID:25741868|PMID:26858187|PMID:27405544|PMID:28492532|PMID:29659898|PMID:31845334|PMID:34006251|PMID:36599957|PMID:9536098 12084991 SHISA7 shisa family member 7 gene DOID:630 genetic disease ISO RGD:3160565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085002 BSND barttin CLCNK type accessory subunit beta gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1346772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB PMID:19646679|PMID:21541222|PMID:25741868|PMID:28492532|PMID:30303587 12085002 BSND barttin CLCNK type accessory subunit beta gene DOID:0110145 Bartter disease type 4A ISO RGD:1346772 D RGD:7240710 20180130 OMIM 12085002 BSND barttin CLCNK type accessory subunit beta gene DOID:0110145 Bartter disease type 4A ISO RGD:1346772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Bartter disease type 4A PMID:11687798|PMID:11734858|PMID:12111250|PMID:12574213|PMID:16199547|PMID:16328537|PMID:16572343|PMID:16583241|PMID:16773427|PMID:16935888|PMID:17954364|PMID:18776122|PMID:19025784|PMID:19096086|PMID:19646679|PMID:21269598|PMID:21541222|PMID:21865213|PMID:23967202|PMID:24033266|PMID:24828792|PMID:24902942|PMID:24949729|PMID:25741868|PMID:26467025|PMID:26537508|PMID:28012523|PMID:28492532|PMID:28555110|PMID:29254190|PMID:29942493|PMID:29986705|PMID:30174009|PMID:30303587|PMID:30311386|PMID:30733538|PMID:32608139|PMID:9463315 12085002 BSND barttin CLCNK type accessory subunit beta gene DOID:10003 sensorineural hearing loss ISO RGD:1346772 D RGD:9068941 20200609 RGD Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon PMID:11687798|REF_RGD_ID:1600603 12085002 BSND barttin CLCNK type accessory subunit beta gene DOID:445 Bartter disease ISO RGD:1346772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bartter syndrome | ClinVar Annotator: match by term: Bartter's syndrome PMID:11687798|PMID:11734858|PMID:12111250|PMID:12574213|PMID:16199547|PMID:16328537|PMID:16572343|PMID:16583241|PMID:16773427|PMID:16935888|PMID:17954364|PMID:18776122|PMID:19025784|PMID:19096086|PMID:19646679|PMID:21269598|PMID:21541222|PMID:21865213|PMID:23967202|PMID:24033266|PMID:24902942|PMID:24949729|PMID:25741868|PMID:26467025|PMID:26537508|PMID:28012523|PMID:28492532|PMID:28555110|PMID:29254190|PMID:29986705|PMID:30174009|PMID:30303587|PMID:30733538|PMID:32608139|PMID:9463315 12085002 BSND barttin CLCNK type accessory subunit beta gene DOID:630 genetic disease ISO RGD:1346772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 12085002 BSND barttin CLCNK type accessory subunit beta gene DOID:9001996 Sensorineural Deafness with Mild Renal Dysfunction ISO RGD:1346772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction PMID:11687798|PMID:19646679|PMID:21541222|PMID:25741868|PMID:28492532|PMID:30303587|PMID:30311386 12085002 BSND barttin CLCNK type accessory subunit beta gene DOID:9004538 Hearing Loss ISO RGD:1346772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:11687798|PMID:19646679|PMID:25741868|PMID:28492532|PMID:30311386 12085002 BSND barttin CLCNK type accessory subunit beta gene DOID:9005308 Hypercholesterolemia, Autosomal Dominant, 3 ISO RGD:1346772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 PMID:28492532|PMID:30269829 12085010 GRK6 G protein-coupled receptor kinase 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1350771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12085010 GRK6 G protein-coupled receptor kinase 6 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1350771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12085010 GRK6 G protein-coupled receptor kinase 6 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1350771 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 12085010 GRK6 G protein-coupled receptor kinase 6 gene DOID:14330 Parkinson's disease ISO RGD:1350771 D RGD:9068941 20200609 RGD human gene in rat model PMID:22090514|REF_RGD_ID:5684916 12085010 GRK6 G protein-coupled receptor kinase 6 gene DOID:14330 Parkinson's disease ISO RGD:61986 D RGD:9068941 20200609 RGD protein: decreased expression: brain PMID:17996024|REF_RGD_ID:5685370 12085010 GRK6 G protein-coupled receptor kinase 6 gene DOID:630 genetic disease ISO RGD:1350771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085010 GRK6 G protein-coupled receptor kinase 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1350771 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10094932 12085010 GRK6 G protein-coupled receptor kinase 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1350771 D RGD:9068941 20200609 RGD protein: decreased expression: mononuclear leukocytes PMID:10094932|REF_RGD_ID:5688380 12085010 GRK6 G protein-coupled receptor kinase 6 gene DOID:7148 rheumatoid arthritis ISO RGD:62278 D RGD:9068941 20200609 RGD DNA: deletion: : homozygous PMID:18662895|REF_RGD_ID:5688373 12085010 GRK6 G protein-coupled receptor kinase 6 gene DOID:9000039 Spinal Cord Injuries ISO RGD:61986 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, neuron, microglial cell (rat) PMID:23359120|REF_RGD_ID:13792782 12085010 GRK6 G protein-coupled receptor kinase 6 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:61986 D RGD:9068941 20200609 RGD PMID:23196710|REF_RGD_ID:13792785 12085010 GRK6 G protein-coupled receptor kinase 6 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1350771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12085010 GRK6 G protein-coupled receptor kinase 6 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:61986 D RGD:9068941 20200609 RGD associated with Parkinson Disease PMID:20410529|REF_RGD_ID:5684919 12085037 CCDC174 coiled-coil domain containing 174 gene DOID:0060417 3p deletion syndrome ISO RGD:1348248 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12085037 CCDC174 coiled-coil domain containing 174 gene DOID:630 genetic disease ISO RGD:1348248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12085037 CCDC174 coiled-coil domain containing 174 gene DOID:9001343 Infantile Hypotonia with Psychomotor Retardation ISO RGD:1348248 D RGD:7240710 20190315 OMIM 12085037 CCDC174 coiled-coil domain containing 174 gene DOID:9001343 Infantile Hypotonia with Psychomotor Retardation ISO RGD:1348248 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation PMID:25741868|PMID:26358778|PMID:28492532 12085055 LOC100687619 peptidyl-prolyl cis-trans isomerase NIMA-interacting 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12085055 LOC100687619 peptidyl-prolyl cis-trans isomerase NIMA-interacting 4 gene DOID:12849 autistic disorder ISO RGD:1345088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12085055 LOC100687619 peptidyl-prolyl cis-trans isomerase NIMA-interacting 4 gene DOID:630 genetic disease ISO RGD:1345088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085059 LOC100687713 BUB3-interacting and GLEBS motif-containing protein ZNF207 gene DOID:630 genetic disease ISO RGD:1317710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085065 TMEM167B transmembrane protein 167B gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1604335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12085065 TMEM167B transmembrane protein 167B gene DOID:12849 autistic disorder ISO RGD:1604335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12085078 GPRC5B G protein-coupled receptor class C group 5 member B gene DOID:630 genetic disease ISO RGD:1319887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085103 IFI27L2 interferon alpha inducible protein 27 like 2 gene DOID:0080054 achondrogenesis type IA ISO RGD:1344421 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12085103 IFI27L2 interferon alpha inducible protein 27 like 2 gene DOID:0080600 COVID-19 ISO RGD:1344421 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12085103 IFI27L2 interferon alpha inducible protein 27 like 2 gene DOID:0081063 DICER1 syndrome ISO RGD:1344421 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 12085103 IFI27L2 interferon alpha inducible protein 27 like 2 gene DOID:630 genetic disease ISO RGD:1344421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085160 COL6A3 collagen type VI alpha 3 chain gene DOID:0050557 congenital muscular dystrophy ISO RGD:1318631 D RGD:9068941 20220825 MouseDO OMIM:254100 12085160 COL6A3 collagen type VI alpha 3 chain gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:1318630 D RGD:7240710 20180130 OMIM 12085160 COL6A3 collagen type VI alpha 3 chain gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:1318630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1, autosomal dominant PMID:11992252|PMID:15563506|PMID:15689448|PMID:16199547|PMID:17576681|PMID:17886299|PMID:18366090|PMID:18378883|PMID:18414213|PMID:19344236|PMID:19564581|PMID:20301676|PMID:20976770|PMID:20981092|PMID:21280092|PMID:23040494|PMID:23572247|PMID:24038877|PMID:24271325|PMID:24518369|PMID:25326635|PMID:25635128|PMID:25741868|PMID:26004199|PMID:26436962|PMID:26467025|PMID:28492532|PMID:29419890|PMID:29970176|PMID:30564623|PMID:32528171|PMID:34167565|PMID:34720847|PMID:7695699|PMID:8218237|PMID:9536098 12085160 COL6A3 collagen type VI alpha 3 chain gene DOID:0050663 Bethlem myopathy ISO RGD:1318630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, benign congenital PMID:15563506|PMID:15689448|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18378883|PMID:18414213|PMID:18825676|PMID:20976770|PMID:20981092|PMID:22995991|PMID:23040494|PMID:23572247|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24332716|PMID:25214167|PMID:25224718|PMID:25741868|PMID:26004199|PMID:26247046|PMID:26284228|PMID:26467025|PMID:26872670|PMID:27708273|PMID:27854218|PMID:28492532|PMID:28562329|PMID:28688748|PMID:29970176|PMID:30487145|PMID:30564623|PMID:31731261|PMID:33964895|PMID:9536098 12085160 COL6A3 collagen type VI alpha 3 chain gene DOID:0050663 Bethlem myopathy ISO RGD:1318630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, benign congenital PMID:15563506|PMID:15689448|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18378883|PMID:18414213|PMID:18825676|PMID:20976770|PMID:20981092|PMID:22995991|PMID:23040494|PMID:23572247|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24332716|PMID:25214167|PMID:25224718|PMID:25741868|PMID:26004199|PMID:26247046|PMID:26284228|PMID:26467025|PMID:26872670|PMID:27708273|PMID:27854218|PMID:28492532|PMID:28562329|PMID:28688748|PMID:29970176|PMID:30564623|PMID:30687093|PMID:31230720|PMID:31265121|PMID:32403337|PMID:32448721|PMID:32528171|PMID:33596003|PMID:33749658|PMID:33964895|PMID:9536098 12085160 COL6A3 collagen type VI alpha 3 chain gene DOID:0090050 dystonia 27 ISO RGD:1318630 D RGD:7240710 20180130 OMIM 12085160 COL6A3 collagen type VI alpha 3 chain gene DOID:0090050 dystonia 27 ISO RGD:1318630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal hereditary motor neuropathy | ClinVar Annotator: match by term: Dystonia 27 PMID:15689448|PMID:17576681|PMID:18378883|PMID:18414213|PMID:20981092|PMID:23572247|PMID:24038877|PMID:25741868|PMID:26004199|PMID:26467025|PMID:26872670|PMID:28492532|PMID:30564623|PMID:30687093|PMID:31265121|PMID:33964895|PMID:9536098 12085160 COL6A3 collagen type VI alpha 3 chain gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1318630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12085160 COL6A3 collagen type VI alpha 3 chain gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1318630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12085160 COL6A3 collagen type VI alpha 3 chain gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1318630 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12085160 COL6A3 collagen type VI alpha 3 chain gene DOID:1059 intellectual disability ISO RGD:1318630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12085160 COL6A3 collagen type VI alpha 3 chain gene DOID:2154 nephroblastoma ISO RGD:1318630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 12085160 COL6A3 collagen type VI alpha 3 chain gene DOID:3652 Leigh disease ISO RGD:1318630 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leigh syndrome 12085160 COL6A3 collagen type VI alpha 3 chain gene DOID:423 myopathy ISO RGD:1318630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy PMID:18414213|PMID:25741868|PMID:28492532 12085160 COL6A3 collagen type VI alpha 3 chain gene DOID:543 dystonia ISO RGD:1318630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12085160 COL6A3 collagen type VI alpha 3 chain gene DOID:630 genetic disease ISO RGD:1318630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15689448|PMID:16199547|PMID:18366090|PMID:19344236|PMID:20976770|PMID:21280092|PMID:24038877|PMID:25741868|PMID:26467025|PMID:27854213|PMID:28492532|PMID:28688748|PMID:7695699|PMID:8218237|PMID:9724608 12085160 COL6A3 collagen type VI alpha 3 chain gene DOID:767 muscular atrophy ISO RGD:1318630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular atrophy PMID:25741868|PMID:28492532 12085160 COL6A3 collagen type VI alpha 3 chain gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1318630 D RGD:7240710 20190327 OMIM 12085160 COL6A3 collagen type VI alpha 3 chain gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1318630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:11992252|PMID:15563506|PMID:15689448|PMID:16199547|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18825676|PMID:19344236|PMID:19564581|PMID:20301676|PMID:20976770|PMID:20981092|PMID:21280092|PMID:22995991|PMID:23040494|PMID:23175733|PMID:23572247|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24314752|PMID:24332716|PMID:24518369|PMID:24907562|PMID:25211533|PMID:25214167|PMID:25224718|PMID:25326635|PMID:25380242|PMID:25535305|PMID:25635128|PMID:25741868|PMID:25987458|PMID:26004199|PMID:26247046|PMID:26284228|PMID:26436962|PMID:26467025|PMID:26752647|PMID:26872670|PMID:27447704|PMID:27708273|PMID:27854213|PMID:27854218|PMID:28492532|PMID:28562329|PMID:28660205|PMID:28688748|PMID:29172004|PMID:29406609|PMID:29419890|PMID:29894794|PMID:29970176|PMID:30564623|PMID:30687093|PMID:31127727|PMID:31230720|PMID:31265121|PMID:32037012|PMID:32065942|PMID:32403337|PMID:32448721|PMID:32528171|PMID:33596003|PMID:33749658|PMID:33964895|PMID:34167565|PMID:7695699|PMID:8218237|PMID:9536084|PMID:9536098|PMID:9724608 12085160 COL6A3 collagen type VI alpha 3 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:1318630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12085160 COL6A3 collagen type VI alpha 3 chain gene DOID:9004866 Ataxia ISO RGD:1318630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensory ataxia PMID:25741868|PMID:28492532 12085160 COL6A3 collagen type VI alpha 3 chain gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1318630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12085160 COL6A3 collagen type VI alpha 3 chain gene DOID:9007913 Collagen VI-related Myopathy ISO RGD:1318630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:15563506|PMID:15689448|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18378883|PMID:18414213|PMID:18825676|PMID:20976770|PMID:20981092|PMID:22995991|PMID:23040494|PMID:23572247|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24332716|PMID:25214167|PMID:25224718|PMID:25741868|PMID:26004199|PMID:26247046|PMID:26284228|PMID:26467025|PMID:26872670|PMID:27708273|PMID:27854218|PMID:28492532|PMID:28562329|PMID:28688748|PMID:29970176|PMID:30564623|PMID:30687093|PMID:31265121|PMID:32403337|PMID:32448721|PMID:32528171|PMID:33596003|PMID:33749658|PMID:33964895|PMID:9536098 12085160 COL6A3 collagen type VI alpha 3 chain gene DOID:9884 muscular dystrophy ISO RGD:1318630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:17576681|PMID:25741868|PMID:28492532|PMID:30564623|PMID:9536098 12085160 COL6A3 collagen type VI alpha 3 chain gene DOID:9884 muscular dystrophy susceptibility ISO RGD:1318630 D RGD:9068941 20200609 RGD Bethlem myopathy, OMIM:158810;DNA:missense mutation PMID:9536084|REF_RGD_ID:1600940 12085235 ZNF436 zinc finger protein 436 gene DOID:630 genetic disease ISO RGD:1321577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085235 ZNF436 zinc finger protein 436 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1321577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12085261 SLC35C1 solute carrier family 35 member C1 gene DOID:0050444 infantile Refsum disease ISO RGD:1319816 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 12085261 SLC35C1 solute carrier family 35 member C1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1319816 D RGD:7240710 20180130 OMIM 12085261 SLC35C1 solute carrier family 35 member C1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1319816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CDG IIc | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2C | ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:11213799|PMID:11326279|PMID:11326280|PMID:12116250|PMID:1279426|PMID:16455955|PMID:17576681|PMID:23806237|PMID:24033266|PMID:24403049|PMID:25326637|PMID:25741868|PMID:28492532|PMID:29030401|PMID:32313197|PMID:33098347|PMID:33413482|PMID:9536098 12085261 SLC35C1 solute carrier family 35 member C1 gene DOID:10283 prostate cancer ISO RGD:1319816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12085261 SLC35C1 solute carrier family 35 member C1 gene DOID:1059 intellectual disability ISO RGD:1319816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12085261 SLC35C1 solute carrier family 35 member C1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1319816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 12085261 SLC35C1 solute carrier family 35 member C1 gene DOID:630 genetic disease ISO RGD:1319816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12085261 SLC35C1 solute carrier family 35 member C1 gene DOID:905 Zellweger syndrome ISO RGD:1319816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 12085277 LOC403898 olfactory receptor 8G1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1352593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12085277 LOC403898 olfactory receptor 8G1 gene DOID:5419 schizophrenia ISO RGD:1352593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12085277 LOC403898 olfactory receptor 8G1 gene DOID:630 genetic disease ISO RGD:1352593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085277 LOC403898 olfactory receptor 8G1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1352593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12085277 LOC403898 olfactory receptor 8G1 gene DOID:9007661 Dwarfism ISO RGD:1352593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12085278 PIP4K2C phosphatidylinositol-5-phosphate 4-kinase type 2 gamma gene DOID:607 paraplegia ISO RGD:733243 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12085278 PIP4K2C phosphatidylinositol-5-phosphate 4-kinase type 2 gamma gene DOID:630 genetic disease ISO RGD:733243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085278 PIP4K2C phosphatidylinositol-5-phosphate 4-kinase type 2 gamma gene DOID:6846 familial melanoma ISO RGD:733243 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 12085292 NUDT2 nudix hydrolase 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1352613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12085292 NUDT2 nudix hydrolase 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1352613 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12085292 NUDT2 nudix hydrolase 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1352613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12085292 NUDT2 nudix hydrolase 2 gene DOID:1059 intellectual disability ISO RGD:1352613 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:27431290|PMID:30059600|PMID:33058507 12085292 NUDT2 nudix hydrolase 2 gene DOID:630 genetic disease ISO RGD:1352613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085292 NUDT2 nudix hydrolase 2 gene DOID:9000579 INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY ISO RGD:1352613 D RGD:7240710 20220629 OMIM 12085292 NUDT2 nudix hydrolase 2 gene DOID:9000579 INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY ISO RGD:1352613 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with or without peripheral neuropathy PMID:25741868|PMID:27431290|PMID:30059600|PMID:33058507 12085292 NUDT2 nudix hydrolase 2 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1352613 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868|PMID:27431290|PMID:30059600|PMID:33058507 12085292 NUDT2 nudix hydrolase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1352613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20533549 12085292 NUDT2 nudix hydrolase 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12085292 NUDT2 nudix hydrolase 2 gene DOID:9870 galactosemia ISO RGD:1352613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12085308 ACSBG2 acyl-CoA synthetase bubblegum family member 2 gene DOID:630 genetic disease ISO RGD:1604279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085328 MYBL2 MYB proto-oncogene like 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1318264 D RGD:9068941 20220825 MouseDO OMIM:614286 12085328 MYBL2 MYB proto-oncogene like 2 gene DOID:0080600 COVID-19 ISO RGD:1318263 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12085328 MYBL2 MYB proto-oncogene like 2 gene DOID:2234 focal epilepsy ISO RGD:1318263 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12085328 MYBL2 MYB proto-oncogene like 2 gene DOID:630 genetic disease ISO RGD:1318263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085328 MYBL2 MYB proto-oncogene like 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1318263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12085328 MYBL2 MYB proto-oncogene like 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1318263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12085328 MYBL2 MYB proto-oncogene like 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1318264 D RGD:9068941 20220825 MouseDO OMIM:601626 12085347 ALG10B ALG10 alpha-1,2-glucosyltransferase B gene DOID:0110645 long QT syndrome 2 ISO RGD:1344377 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 12085347 LOC477647 ALG10 alpha-1,2-glucosyltransferase gene DOID:0050563 nonsyndromic deafness ISO RGD:1623681 D RGD:9068941 20220825 MouseDO 12085347 LOC477647 ALG10 alpha-1,2-glucosyltransferase gene DOID:0110645 long QT syndrome 2 susceptibility ISO RGD:1344377 D RGD:7240710 20230505 OMIM 12085347 LOC477647 ALG10 alpha-1,2-glucosyltransferase gene DOID:630 genetic disease ISO RGD:1344377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085354 PAPSS1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 gene DOID:0080600 COVID-19 ISO RGD:1317646 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12085354 PAPSS1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 gene DOID:630 genetic disease ISO RGD:1317646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085378 GRAP2 GRB2 related adaptor protein 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12085378 GRAP2 GRB2 related adaptor protein 2 gene DOID:1883 hepatitis C severity ISO RGD:1316895 D RGD:9068941 20210423 RGD DNA:SNP:intron: (human) PMID:15063762|REF_RGD_ID:126790487 12085378 GRAP2 GRB2 related adaptor protein 2 gene DOID:630 genetic disease ISO RGD:1316895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085378 GRAP2 GRB2 related adaptor protein 2 gene DOID:9007278 Anaphylaxis ameliorates ISO RGD:1552736 D RGD:9068941 20210423 RGD PMID:18664516|REF_RGD_ID:126790488 12085405 B4GALT7 beta-1,4-galactosyltransferase 7 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1354325 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:10473568|PMID:10506123|PMID:1221956|PMID:15211654|PMID:1640425|PMID:17576681|PMID:18158310|PMID:20691685|PMID:20809901|PMID:23956117|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28492532|PMID:28882145|PMID:30914273|PMID:31278392|PMID:31614862|PMID:32429945|PMID:3631078|PMID:9536098 12085405 B4GALT7 beta-1,4-galactosyltransferase 7 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1354325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:10473568|PMID:10506123|PMID:1221956|PMID:15211654|PMID:16199547|PMID:1640425|PMID:17576681|PMID:18158310|PMID:20691685|PMID:20809901|PMID:23956117|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28492532|PMID:28882145|PMID:30914273|PMID:31278392|PMID:31614862|PMID:32429945|PMID:34193099|PMID:3631078|PMID:9536098 12085405 B4GALT7 beta-1,4-galactosyltransferase 7 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1354325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:1221956|PMID:15211654|PMID:1640425|PMID:18158310|PMID:20691685|PMID:20809901|PMID:23956117|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28492532|PMID:31278392 12085405 B4GALT7 beta-1,4-galactosyltransferase 7 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1354325 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12085405 B4GALT7 beta-1,4-galactosyltransferase 7 gene DOID:0080738 Ehlers-Danlos syndrome spondylodysplastic type 1 ISO RGD:1354325 D RGD:7240710 20200826 OMIM 12085405 B4GALT7 beta-1,4-galactosyltransferase 7 gene DOID:0080738 Ehlers-Danlos syndrome spondylodysplastic type 1 ISO RGD:1354325 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 1 PMID:1221956|PMID:15211654|PMID:1640425|PMID:17576681|PMID:18158310|PMID:20691685|PMID:20809901|PMID:23956117|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28492532|PMID:30914273|PMID:31278392|PMID:31614862|PMID:9536098 12085405 B4GALT7 beta-1,4-galactosyltransferase 7 gene DOID:0111508 Torrance type platyspondylic dysplasia ISO RGD:1354325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal skeletal dysplasia PMID:1221956|PMID:15211654|PMID:1640425|PMID:18158310|PMID:20691685|PMID:20809901|PMID:23956117|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28492532|PMID:31278392 12085405 B4GALT7 beta-1,4-galactosyltransferase 7 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1354325 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 12085405 B4GALT7 beta-1,4-galactosyltransferase 7 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1354325 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532|PMID:31278392|PMID:31614862 12085405 B4GALT7 beta-1,4-galactosyltransferase 7 gene DOID:13359 Ehlers-Danlos syndrome susceptibility ISO RGD:1354325 D RGD:9068941 20200609 RGD DNA:transition:exon;808C>T PMID:10473568|REF_RGD_ID:1599433 12085405 B4GALT7 beta-1,4-galactosyltransferase 7 gene DOID:2729 dyskeratosis congenita ISO RGD:1354325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12085405 B4GALT7 beta-1,4-galactosyltransferase 7 gene DOID:630 genetic disease ISO RGD:1354325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25533962|PMID:25741868|PMID:26940150|PMID:28492532|PMID:31614862 12085405 B4GALT7 beta-1,4-galactosyltransferase 7 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1354325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12085405 B4GALT7 beta-1,4-galactosyltransferase 7 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1354325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 12085416 ADGRF4 adhesion G protein-coupled receptor F4 gene DOID:5419 schizophrenia ISO RGD:1315496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12085416 ADGRF4 adhesion G protein-coupled receptor F4 gene DOID:630 genetic disease ISO RGD:1315496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085432 DSEL dermatan sulfate epimerase like gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1317082 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12085432 DSEL dermatan sulfate epimerase like gene DOID:630 genetic disease ISO RGD:1317082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085432 DSEL dermatan sulfate epimerase like gene DOID:8445 intestinal volvulus ISO RGD:1317082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12085432 DSEL dermatan sulfate epimerase like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12085432 DSEL dermatan sulfate epimerase like gene DOID:9008419 Volvulus Of Midgut ISO RGD:1317082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12085442 HPN hepsin gene DOID:0110222 Brugada syndrome 5 ISO RGD:732957 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12085442 HPN hepsin gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:732957 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12085442 HPN hepsin gene DOID:543 dystonia ISO RGD:732957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12085442 HPN hepsin gene DOID:630 genetic disease ISO RGD:732957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085442 HPN hepsin gene DOID:9002304 Prostatic Neoplasms ISO RGD:732957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15583422|PMID:16783571 12085442 HPN hepsin gene DOID:9455 lipid storage disease ISO RGD:732957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414 12085465 CRTAP cartilage associated protein gene DOID:0110337 osteogenesis imperfecta type 7 ISO RGD:1320245 D RGD:7240710 20180130 OMIM 12085465 CRTAP cartilage associated protein gene DOID:0110337 osteogenesis imperfecta type 7 ISO RGD:1320245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 PMID:12110406|PMID:16199547|PMID:17055431|PMID:17192541|PMID:17576681|PMID:18414213|PMID:18566967|PMID:18996919|PMID:19550437|PMID:19846465|PMID:19862557|PMID:21955071|PMID:23054245|PMID:24033266|PMID:24715559|PMID:25604815|PMID:25741868|PMID:27509835|PMID:28116328|PMID:28492532|PMID:31742715|PMID:32922437|PMID:9536098 12085465 CRTAP cartilage associated protein gene DOID:12347 osteogenesis imperfecta ISO RGD:1320245 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:16199547|PMID:17055431|PMID:17192541|PMID:18996919|PMID:19550437|PMID:24033266|PMID:25741868|PMID:28492532 12085465 CRTAP cartilage associated protein gene DOID:12347 osteogenesis imperfecta ISO RGD:1320245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:16199547|PMID:17055431|PMID:17192541|PMID:18996919|PMID:19550437|PMID:19862557|PMID:24033266|PMID:24715559|PMID:25741868|PMID:28492532 12085465 CRTAP cartilage associated protein gene DOID:630 genetic disease ISO RGD:1320245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12085465 CRTAP cartilage associated protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12085481 CCDC125 coiled-coil domain containing 125 gene DOID:630 genetic disease ISO RGD:1604973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085481 CCDC125 coiled-coil domain containing 125 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12085500 H2BC4 H2B clustered histone 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1344863 D RGD:9068941 20201127 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12085500 H2BC4 H2B clustered histone 4 gene DOID:9006205 Animal Disease Models ISO RGD:1344863 D RGD:9068941 20201203 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12085500 H2BC4 H2B clustered histone 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1344863 D RGD:9068941 20201203 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 12085513 LRP8 LDL receptor related protein 8 gene DOID:0060903 thrombosis ISO RGD:1313933 D RGD:9068941 20200609 RGD associated with Antiphospholipid Syndrome PMID:21119114|REF_RGD_ID:6483062 12085513 LRP8 LDL receptor related protein 8 gene DOID:10652 Alzheimer's disease ISO RGD:1313932 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:2622T>C (human) PMID:12399018|REF_RGD_ID:6483064 12085513 LRP8 LDL receptor related protein 8 gene DOID:10652 Alzheimer's disease no_association ISO RGD:1313932 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple PMID:20208369|REF_RGD_ID:6483065 12085513 LRP8 LDL receptor related protein 8 gene DOID:1307 dementia ISO RGD:1313932 D RGD:9068941 20200609 RGD DNA:mutation: :p.R952Q (human) PMID:17614163|REF_RGD_ID:6483063 12085513 LRP8 LDL receptor related protein 8 gene DOID:3393 coronary artery disease no_association ISO RGD:1313932 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R952Q (human) PMID:18592168|REF_RGD_ID:2306125 12085513 LRP8 LDL receptor related protein 8 gene DOID:3393 coronary artery disease onset ISO RGD:1313932 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R952Q (human) PMID:17847002|REF_RGD_ID:2306124 12085513 LRP8 LDL receptor related protein 8 gene DOID:5419 schizophrenia ISO RGD:1313932 D RGD:9068941 20200609 RGD DNA:SNP, missense mutation:exon, cds: (rs2297660, rs3737983) (human) PMID:22419519|REF_RGD_ID:6483059 12085513 LRP8 LDL receptor related protein 8 gene DOID:5844 myocardial infarction ISO RGD:1313932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1 PMID:17847002 12085513 LRP8 LDL receptor related protein 8 gene DOID:5844 myocardial infarction no_association ISO RGD:1313932 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R952Q (human) PMID:18592168|REF_RGD_ID:2306125 12085513 LRP8 LDL receptor related protein 8 gene DOID:5844 myocardial infarction onset ISO RGD:1313932 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R952Q (human) PMID:17847002|REF_RGD_ID:2306124 12085513 LRP8 LDL receptor related protein 8 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1313932 D RGD:7240710 20190502 OMIM 12085513 LRP8 LDL receptor related protein 8 gene DOID:630 genetic disease ISO RGD:1313932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085513 LRP8 LDL receptor related protein 8 gene DOID:9002955 Nerve Degeneration ISO RGD:1313932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18172410 12085553 DDX28 DEAD-box helicase 28 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1323712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12085553 DDX28 DEAD-box helicase 28 gene DOID:630 genetic disease ISO RGD:1323712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085557 TMEM132E transmembrane protein 132E gene DOID:0111634 autosomal recessive nonsyndromic deafness 99 ISO RGD:1603364 D RGD:7240710 20190710 OMIM 12085557 TMEM132E transmembrane protein 132E gene DOID:0111634 autosomal recessive nonsyndromic deafness 99 ISO RGD:1603364 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 99 PMID:12673573|PMID:25331638|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31656313 12085557 TMEM132E transmembrane protein 132E gene DOID:630 genetic disease ISO RGD:1603364 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12085557 TMEM132E transmembrane protein 132E gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12085571 RNF208 ring finger protein 208 gene DOID:0050777 Joubert syndrome ISO RGD:1603720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12085571 RNF208 ring finger protein 208 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1603720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12085571 RNF208 ring finger protein 208 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1603720 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12085571 RNF208 ring finger protein 208 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1603720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12085571 RNF208 ring finger protein 208 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1603720 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12085571 RNF208 ring finger protein 208 gene DOID:0081097 Rafiq syndrome ISO RGD:1603720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12085571 RNF208 ring finger protein 208 gene DOID:1826 epilepsy ISO RGD:1603720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12085571 RNF208 ring finger protein 208 gene DOID:630 genetic disease ISO RGD:1603720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085571 RNF208 ring finger protein 208 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1603720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12085580 CLCN5 chloride voltage-gated channel 5 gene DOID:0050699 Dent disease ISO RGD:733029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dent disease PMID:15814539|PMID:28492532 12085580 CLCN5 chloride voltage-gated channel 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12085580 CLCN5 chloride voltage-gated channel 5 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:733029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12085580 CLCN5 chloride voltage-gated channel 5 gene DOID:0080353 X-linked recessive hypophosphatemic rickets ISO RGD:733029 D RGD:7240710 20181017 OMIM 12085580 CLCN5 chloride voltage-gated channel 5 gene DOID:0080353 X-linked recessive hypophosphatemic rickets ISO RGD:733029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive PMID:11136179|PMID:15719255|PMID:15895257|PMID:16822791|PMID:18038239|PMID:19076289|PMID:19546586|PMID:19546591|PMID:22876375|PMID:24081861|PMID:25741868|PMID:25907713|PMID:26822237|PMID:27117801|PMID:27889724|PMID:28492532|PMID:28580211|PMID:31672324|PMID:32683654|PMID:7915957|PMID:8559248|PMID:9187673|PMID:9734595 12085580 CLCN5 chloride voltage-gated channel 5 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:733029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12085580 CLCN5 chloride voltage-gated channel 5 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:733029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12085580 CLCN5 chloride voltage-gated channel 5 gene DOID:0111798 X-linked nephrolithiasis type I ISO RGD:733029 D RGD:7240710 20180130 OMIM 12085580 CLCN5 chloride voltage-gated channel 5 gene DOID:0111798 X-linked nephrolithiasis type I ISO RGD:733029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: UROLITHIASIS, X-LINKED RECESSIVE, TYPE 1 | ClinVar Annotator: match by term: X-linked recessive nephrolithiasis with renal failure PMID:11136179|PMID:12637640|PMID:15719255|PMID:15895257|PMID:16822791|PMID:18038239|PMID:19076289|PMID:19546586|PMID:19546591|PMID:22876375|PMID:24081861|PMID:25741868|PMID:25907713|PMID:26822237|PMID:27117801|PMID:27889724|PMID:28492532|PMID:28580211|PMID:31672324|PMID:32683654|PMID:7915957|PMID:8559248|PMID:9187673|PMID:9602200|PMID:9734595 12085580 CLCN5 chloride voltage-gated channel 5 gene DOID:0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis ISO RGD:733029 D RGD:7240710 20180130 OMIM 12085580 CLCN5 chloride voltage-gated channel 5 gene DOID:0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis ISO RGD:733029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis PMID:11136179|PMID:15719255|PMID:15895257|PMID:16822791|PMID:18038239|PMID:19076289|PMID:19546586|PMID:19546591|PMID:22876375|PMID:24081861|PMID:25741868|PMID:25907713|PMID:26822237|PMID:27117801|PMID:27889724|PMID:28492532|PMID:28580211|PMID:31672324|PMID:32683654|PMID:7915957|PMID:8559248|PMID:9062355|PMID:9187673|PMID:9734595 12085580 CLCN5 chloride voltage-gated channel 5 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:733029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12085580 CLCN5 chloride voltage-gated channel 5 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:733029 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 12085580 CLCN5 chloride voltage-gated channel 5 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:733029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12085580 CLCN5 chloride voltage-gated channel 5 gene DOID:1184 nephrotic syndrome ISO RGD:733029 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868 12085580 CLCN5 chloride voltage-gated channel 5 gene DOID:12176 goiter ISO RGD:733029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16306076 12085580 CLCN5 chloride voltage-gated channel 5 gene DOID:12849 autistic disorder ISO RGD:733029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12085580 CLCN5 chloride voltage-gated channel 5 gene DOID:3070 high grade glioma ISO RGD:733029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12843258 12085580 CLCN5 chloride voltage-gated channel 5 gene DOID:447 renal tubular transport disease ISO RGD:2362 D RGD:9068941 20200609 RGD PMID:12475763|REF_RGD_ID:628538 12085580 CLCN5 chloride voltage-gated channel 5 gene DOID:576 proteinuria ISO RGD:733029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15719255 12085580 CLCN5 chloride voltage-gated channel 5 gene DOID:630 genetic disease ISO RGD:733029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10906159|PMID:22876375|PMID:25741868|PMID:25907713|PMID:28166811|PMID:28492532|PMID:9734595 12085580 CLCN5 chloride voltage-gated channel 5 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:733029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:14673707|PMID:25741868|PMID:28492532 12085580 CLCN5 chloride voltage-gated channel 5 gene DOID:9001961 Hyperkalemia ISO RGD:733029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemia PMID:25741868 12085580 CLCN5 chloride voltage-gated channel 5 gene DOID:9007505 Familial Hypophosphatemic Rickets ISO RGD:733029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12085580 CLCN5 chloride voltage-gated channel 5 gene DOID:9008579 Dent Disease 1 ISO RGD:733029 D RGD:7240710 20180130 OMIM 12085580 CLCN5 chloride voltage-gated channel 5 gene DOID:9008579 Dent Disease 1 ISO RGD:733029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NEPHROLITHIASIS, HYPERCALCIURIC, X-LINKED | ClinVar Annotator: match by term: Nephrolithiasis 2 PMID:10469281|PMID:10906159|PMID:11136179|PMID:12637640|PMID:14569459|PMID:15052463|PMID:15086899|PMID:15719255|PMID:15895257|PMID:16041495|PMID:16247550|PMID:16822791|PMID:16861240|PMID:18038239|PMID:18184518|PMID:19076289|PMID:19546586|PMID:19546591|PMID:19657328|PMID:19673950|PMID:19806368|PMID:21305656|PMID:22876375|PMID:24081861|PMID:25001568|PMID:25326635|PMID:25741868|PMID:25907713|PMID:26822237|PMID:27117801|PMID:27889724|PMID:28492532|PMID:28580211|PMID:30773290|PMID:31672324|PMID:31674016|PMID:31852738|PMID:32289351|PMID:32683654|PMID:33532864|PMID:35738466|PMID:7874126|PMID:7915957|PMID:8559248|PMID:8950885|PMID:9062355|PMID:9187673|PMID:9259268|PMID:9328929|PMID:9734595|PMID:9853249 12085609 PDCD6 programmed cell death 6 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1322592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 12085609 PDCD6 programmed cell death 6 gene DOID:630 genetic disease ISO RGD:1322592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085609 PDCD6 programmed cell death 6 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1322592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 12085621 JAML junction adhesion molecule like gene DOID:0060017 CD3epsilon deficiency ISO RGD:1344740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12085621 JAML junction adhesion molecule like gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1344740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12085621 JAML junction adhesion molecule like gene DOID:0080690 RASopathy ISO RGD:1344740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12085621 JAML junction adhesion molecule like gene DOID:0081330 glycogen storage disease Ib ISO RGD:1344740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12085621 JAML junction adhesion molecule like gene DOID:0110651 long QT syndrome 10 ISO RGD:1344740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12085621 JAML junction adhesion molecule like gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1344740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12085621 JAML junction adhesion molecule like gene DOID:0111971 immunodeficiency 18 ISO RGD:1344740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12085621 JAML junction adhesion molecule like gene DOID:0111972 immunodeficiency 19 ISO RGD:1344740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12085621 JAML junction adhesion molecule like gene DOID:0111973 immunodeficiency 17 ISO RGD:1344740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12085621 JAML junction adhesion molecule like gene DOID:1059 intellectual disability ISO RGD:1344740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12085621 JAML junction adhesion molecule like gene DOID:630 genetic disease ISO RGD:1344740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085621 JAML junction adhesion molecule like gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12085621 JAML junction adhesion molecule like gene DOID:9007661 Dwarfism ISO RGD:1344740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12085635 CIAO2B cytosolic iron-sulfur assembly component 2B gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1602116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12085635 CIAO2B cytosolic iron-sulfur assembly component 2B gene DOID:0110255 cataract 5 multiple types ISO RGD:1602116 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 12085635 CIAO2B cytosolic iron-sulfur assembly component 2B gene DOID:630 genetic disease ISO RGD:1602116 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085643 CSF1 colony stimulating factor 1 gene DOID:0050169 cutaneous lupus erythematosus ISO RGD:731067 D RGD:9068941 20200609 RGD PMID:18981160|REF_RGD_ID:7257572 12085643 CSF1 colony stimulating factor 1 gene DOID:0080162 lupus nephritis ISO RGD:731066 D RGD:9068941 20200609 RGD PMID:17659436|REF_RGD_ID:7257589 12085643 CSF1 colony stimulating factor 1 gene DOID:0080162 lupus nephritis ISO RGD:731067 D RGD:9068941 20200609 RGD PMID:21885670|REF_RGD_ID:7257567 12085643 CSF1 colony stimulating factor 1 gene DOID:0080600 COVID-19 ISO RGD:731066 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 12085643 CSF1 colony stimulating factor 1 gene DOID:0080600 COVID-19 severity ISO RGD:731066 D RGD:9068941 20200618 RGD protein:increased expression:plasma (human) PMID:32360286|REF_RGD_ID:30309209 12085643 CSF1 colony stimulating factor 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:731066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12085643 CSF1 colony stimulating factor 1 gene DOID:12849 autistic disorder ISO RGD:731066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12085643 CSF1 colony stimulating factor 1 gene DOID:13533 osteopetrosis ISO RGD:621063 D RGD:9068941 20200609 RGD DNA:insertion:cds (rat) PMID:12379742|REF_RGD_ID:628338 12085643 CSF1 colony stimulating factor 1 gene DOID:13533 osteopetrosis ISO RGD:731067 D RGD:9068941 20220825 MouseDO 12085643 CSF1 colony stimulating factor 1 gene DOID:13949 interstitial cystitis treatment ISO RGD:731066 D RGD:9068941 20200609 RGD PMID:22441309|REF_RGD_ID:7241234 12085643 CSF1 colony stimulating factor 1 gene DOID:1612 breast cancer ISO RGD:731066 D RGD:9068941 20200609 RGD PMID:18172291|REF_RGD_ID:2293639 12085643 CSF1 colony stimulating factor 1 gene DOID:1790 malignant mesothelioma ISO RGD:731066 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 12085643 CSF1 colony stimulating factor 1 gene DOID:1936 atherosclerosis ISO RGD:731066 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:16166801|REF_RGD_ID:7257575 12085643 CSF1 colony stimulating factor 1 gene DOID:1936 atherosclerosis ISO RGD:731067 D RGD:9068941 20200609 RGD protein:increased expression:plasma (mouse) PMID:9637704|REF_RGD_ID:734837 12085643 CSF1 colony stimulating factor 1 gene DOID:289 endometriosis ISO RGD:731066 D RGD:9068941 20200813 RGD protein:increased expression:peritoneal fluid (human) PMID:22365076|REF_RGD_ID:38500240 12085643 CSF1 colony stimulating factor 1 gene DOID:2921 glomerulonephritis ISO RGD:731066 D RGD:9068941 20200609 RGD PMID:11477167|REF_RGD_ID:7257579 12085643 CSF1 colony stimulating factor 1 gene DOID:3021 acute kidney failure ISO RGD:731067 D RGD:9068941 20200609 RGD PMID:23143303|REF_RGD_ID:7257565 12085643 CSF1 colony stimulating factor 1 gene DOID:3070 high grade glioma ISO RGD:621063 D RGD:9068941 20200609 RGD PMID:15728459|REF_RGD_ID:2293641 12085643 CSF1 colony stimulating factor 1 gene DOID:418 systemic scleroderma ISO RGD:621063 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:22700848|REF_RGD_ID:7257593 12085643 CSF1 colony stimulating factor 1 gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:621063 D RGD:9068941 20200609 RGD PMID:19242505|REF_RGD_ID:7257569 12085643 CSF1 colony stimulating factor 1 gene DOID:5199 ureteral obstruction ISO RGD:731067 D RGD:9068941 20200609 RGD PMID:16951369|REF_RGD_ID:7257574 12085643 CSF1 colony stimulating factor 1 gene DOID:5199 ureteral obstruction ISO RGD:731067 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:23628901|REF_RGD_ID:7257564 12085643 CSF1 colony stimulating factor 1 gene DOID:5408 Paget's disease of bone ISO RGD:731066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20436471 12085643 CSF1 colony stimulating factor 1 gene DOID:630 genetic disease ISO RGD:731066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085643 CSF1 colony stimulating factor 1 gene DOID:783 end stage renal disease ISO RGD:731066 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11340249|REF_RGD_ID:7257586 12085643 CSF1 colony stimulating factor 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:621063 D RGD:9068941 20200609 RGD PMID:9158105|REF_RGD_ID:1641957 12085643 CSF1 colony stimulating factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731066 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:18510570|REF_RGD_ID:2293638 12085643 CSF1 colony stimulating factor 1 gene DOID:9001542 Albuminuria treatment ISO RGD:621063 D RGD:9068941 20200609 RGD associated with Hypercholesterolemia and Diabetes Mellitus, Experimental PMID:8573750|REF_RGD_ID:7257591 12085643 CSF1 colony stimulating factor 1 gene DOID:9002371 Cardiotoxicity ISO RGD:731066 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism PMID:32068018 12085643 CSF1 colony stimulating factor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:621063 D RGD:9068941 20210709 RGD protein:increased expression:dorsal root ganglion PMID:32510872|REF_RGD_ID:127338469 12085643 CSF1 colony stimulating factor 1 gene DOID:9004001 Facial Nerve Injuries ISO RGD:621063 D RGD:9068941 20200609 RGD protein:increased expression:facial VII nerve, microglial cell PMID:20831658|REF_RGD_ID:5131509 12085643 CSF1 colony stimulating factor 1 gene DOID:9004283 Transplant Rejection ISO RGD:621063 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:11981428|REF_RGD_ID:7257590 12085643 CSF1 colony stimulating factor 1 gene DOID:9004283 Transplant Rejection ISO RGD:731066 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:19196448|REF_RGD_ID:7257570 12085643 CSF1 colony stimulating factor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731066 D RGD:9068941 20200609 RGD PMID:15205327|REF_RGD_ID:2293710 12085643 CSF1 colony stimulating factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621063 D RGD:9068941 20220407 RGD mRNA,protein:increased expression:retina (rat) PMID:19219684|REF_RGD_ID:151665779 12085643 CSF1 colony stimulating factor 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:731066 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:19196448|REF_RGD_ID:7257570 12085643 CSF1 colony stimulating factor 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:731067 D RGD:9068941 20200609 RGD PMID:23143303|REF_RGD_ID:7257565 12085643 CSF1 colony stimulating factor 1 gene DOID:9007083 Edentulous Mouth ISO RGD:621063 D RGD:9068941 20210219 RGD PMID:12379742|REF_RGD_ID:628338 12085643 CSF1 colony stimulating factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:731066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16618760 12085643 CSF1 colony stimulating factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:731067 D RGD:9068941 20200609 RGD PMID:16618760|REF_RGD_ID:2293640 12085643 CSF1 colony stimulating factor 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:731067 D RGD:9068941 20200609 RGD PMID:15383612|REF_RGD_ID:7257578 12085643 CSF1 colony stimulating factor 1 gene DOID:9120 amyloidosis ISO RGD:731066 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:12038073|REF_RGD_ID:7257581 12085643 CSF1 colony stimulating factor 1 gene DOID:9620 vesicoureteral reflux ISO RGD:731066 D RGD:9068941 20200609 RGD PMID:12110011|REF_RGD_ID:7257580 12085669 POLR1G RNA polymerase I subunit G gene DOID:0080914 cerebrooculofacioskeletal syndrome 4 ISO RGD:1606023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 PMID:25741868|PMID:28492532|PMID:33116287 12085669 POLR1G RNA polymerase I subunit G gene DOID:630 genetic disease ISO RGD:1606023 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085684 SMIM17 small integral membrane protein 17 gene DOID:630 genetic disease ISO RGD:7205118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085698 LIME1 Lck interacting transmembrane adaptor 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12085698 LIME1 Lck interacting transmembrane adaptor 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1603039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12085698 LIME1 Lck interacting transmembrane adaptor 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1603039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12085698 LIME1 Lck interacting transmembrane adaptor 1 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1603039 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12085698 LIME1 Lck interacting transmembrane adaptor 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12085698 LIME1 Lck interacting transmembrane adaptor 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12085698 LIME1 Lck interacting transmembrane adaptor 1 gene DOID:630 genetic disease ISO RGD:1603039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085709 PLIN1 perilipin 1 gene DOID:0050440 familial partial lipodystrophy ISO RGD:733482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12085709 PLIN1 perilipin 1 gene DOID:0070205 familial partial lipodystrophy type 4 ISO RGD:733482 D RGD:7240710 20180912 OMIM 12085709 PLIN1 perilipin 1 gene DOID:0070205 familial partial lipodystrophy type 4 ISO RGD:733482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PLIN1-related familial partial lipodystrophy PMID:21345103|PMID:25114292|PMID:25741868|PMID:28492532|PMID:29747582 12085709 PLIN1 perilipin 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:733482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12085709 PLIN1 perilipin 1 gene DOID:2717 Bloom syndrome ISO RGD:733482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12085709 PLIN1 perilipin 1 gene DOID:630 genetic disease ISO RGD:733482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12085709 PLIN1 perilipin 1 gene DOID:9256 colorectal cancer ISO RGD:733482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12085709 PLIN1 perilipin 1 gene DOID:9351 diabetes mellitus ISO RGD:733482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18414213|PMID:25741868|PMID:28492532 12085709 PLIN1 perilipin 1 gene DOID:9970 obesity ISO RGD:733482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15001633 12085709 PLIN1 perilipin 1 gene DOID:9970 obesity susceptibility ISO RGD:733482 D RGD:9068941 20200609 RGD DNA:snp:intron:g.11482G>A (human) PMID:15985482|REF_RGD_ID:1581041 12085709 PLIN1 perilipin 1 gene DOID:9970 obesity susceptibility ISO RGD:736220 D RGD:9068941 20200609 RGD PMID:11371650|REF_RGD_ID:737723 12085724 MIR133C microRNA mir-133c gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343982 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12085724 MIR133C microRNA mir-133c gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1343982 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12085724 MIR133C microRNA mir-133c gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343982 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12085724 MIR133C microRNA mir-133c gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1343982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12085724 MIR133C microRNA mir-133c gene DOID:6000 congestive heart failure ISO RGD:1343982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28751527 12085724 MIR133C microRNA mir-133c gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1607569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28751527 12085791 POP5 POP5 homolog, ribonuclease P/MRP subunit gene DOID:630 genetic disease ISO RGD:1323474 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:0050860 colorectal adenoma ISO RGD:732271 D RGD:9068941 20200609 RGD PMID:21122381|PMID:23082052|REF_RGD_ID:13217408|REF_RGD_ID:13217413 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:732271 D RGD:9068941 20200609 RGD PMID:21122381|REF_RGD_ID:13217408 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21317887 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:621506 D RGD:9068941 20210827 RGD protein:increased phosphorylation:adipose tissue, liver (rat) PMID:27909723|REF_RGD_ID:150340686 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:621506 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; PMID:24404139|REF_RGD_ID:13506784 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:732271 D RGD:9068941 20200609 RGD protein:increased expression:brain,CA1 field of hippocampus: PMID:11208906|REF_RGD_ID:10412676 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:10763 hypertension ISO RGD:621506 D RGD:9068941 20200609 RGD PMID:15302844|REF_RGD_ID:1582315 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:732272 D RGD:9068941 20200609 RGD PMID:23341606|REF_RGD_ID:10412675 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:11168 anogenital venereal wart treatment ISO RGD:732271 D RGD:9068941 20210827 RGD mRNA:increased expression:zone of skin (human) PMID:25774455|REF_RGD_ID:36174028 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:11372 megacolon ISO RGD:732271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:12098 trigeminal neuralgia ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:12205 dengue disease ISO RGD:732272 D RGD:9068941 20210827 RGD protein:increased phosphorylation:liver (mouse) PMID:28188818|REF_RGD_ID:150340680 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:13619 extrahepatic cholestasis ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:1508 candidiasis ameliorates ISO RGD:732272 D RGD:9068941 20210827 RGD PMID:28112734|REF_RGD_ID:150340684 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:1984 rectal benign neoplasm ISO RGD:732271 D RGD:9068941 20200609 RGD DNA:SNP: :rs10508901 (human) PMID:22199996|REF_RGD_ID:13217410 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:1984 rectal benign neoplasm ISO RGD:732271 D RGD:9068941 20200609 RGD DNA:SNP: :rs10857561 (human) PMID:23027623|REF_RGD_ID:13217411 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:2058 chronic mucocutaneous candidiasis ISO RGD:732271 D RGD:9068941 20210827 RGD associated with connective tissue disease;DNA:splice-site mutation:splice junction:c.311+1G>A (human) PMID:31784499|REF_RGD_ID:150340677 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:2237 hepatitis ISO RGD:732272 D RGD:9068941 20220811 RGD PMID:25173965|REF_RGD_ID:153305943 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:2316 brain ischemia ISO RGD:621506 D RGD:9068941 20200609 RGD PMID:15797868|REF_RGD_ID:1582325 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:289 endometriosis ISO RGD:732271 D RGD:9068941 20210827 RGD mRNA:increased expression:peritoneum (human) PMID:25207642|REF_RGD_ID:150340690 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732272 D RGD:9068941 20221117 RGD mRNA, protein:increased expression:lung (mouse) PMID:34331613|REF_RGD_ID:155663371 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:732271 D RGD:9068941 20200609 RGD PMID:20699612|REF_RGD_ID:5490968 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:3310 atopic dermatitis ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24046278 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:732272 D RGD:9068941 20200609 RGD protein:increased phosphorylation:pancreas (mouse) PMID:23237571|REF_RGD_ID:14348975 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:732272 D RGD:9068941 20200609 RGD PMID:28837246|REF_RGD_ID:14348974 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:3944 Arenaviridae infectious disease ISO RGD:732272 D RGD:9068941 20210827 RGD PMID:11927625|REF_RGD_ID:150340679 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:4074 pancreatic adenocarcinoma exacerbates ISO RGD:732271 D RGD:9068941 20210827 RGD protein:increased phosphorylation:pancreas (human) PMID:24395444|REF_RGD_ID:150340683 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:621506 D RGD:9068941 20200609 RGD PMID:21894146|REF_RGD_ID:6218988 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:5419 schizophrenia ISO RGD:732271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:5844 myocardial infarction ameliorates ISO RGD:621506 D RGD:9068941 20230427 RGD PMID:28622474|REF_RGD_ID:329333030 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:732271 D RGD:9068941 20210827 RGD protein:decreased phosphorylation:liver (human) PMID:33875785|REF_RGD_ID:150340688 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:7693 abdominal aortic aneurysm ISO RGD:732271 D RGD:9068941 20200609 RGD PMID:16311603|REF_RGD_ID:1582313 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:7693 abdominal aortic aneurysm ISO RGD:732272 D RGD:9068941 20200609 RGD PMID:16311603|REF_RGD_ID:1582313 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:874 bacterial pneumonia severity ISO RGD:732272 D RGD:9068941 20210827 RGD associated with Escherichia Coli Infections PMID:22514650|REF_RGD_ID:150340681 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:9000217 Stomach Neoplasms ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18593901 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:9000371 influenza A ameliorates ISO RGD:732272 D RGD:9068941 20210827 RGD PMID:22514650|REF_RGD_ID:150340681 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:9000955 Acute Otitis Media ISO RGD:732272 D RGD:9068941 20210827 RGD mRNA:decreased expression:middle ear (mouse) PMID:21307808|REF_RGD_ID:150340689 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:9002137 Infectious Ectromelia exacerbates ISO RGD:732272 D RGD:9068941 20210827 RGD PMID:24673683|REF_RGD_ID:150340678 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:621506 D RGD:9068941 20200609 RGD protein:increased activity:liver: PMID:11679968|REF_RGD_ID:10412680 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:9002211 Hyperalgesia ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:9002245 Intestinal Neoplasms ISO RGD:732272 D RGD:9068941 20200609 RGD PMID:17591974|REF_RGD_ID:13217412 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:9002245 Intestinal Neoplasms treatment ISO RGD:732272 D RGD:9068941 20200609 RGD PMID:23327547|REF_RGD_ID:13217409 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:732272 D RGD:9068941 20200609 RGD PMID:19433784|REF_RGD_ID:10412674 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:9002928 Colonic Neoplasms ISO RGD:732271 D RGD:9068941 20200609 RGD PMID:17591974|REF_RGD_ID:13217412 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:732271 D RGD:9068941 20200609 RGD PMID:18460448|REF_RGD_ID:13217414 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:9003936 Cardiomegaly ISO RGD:732272 D RGD:9068941 20200609 RGD PMID:12668503|REF_RGD_ID:1582316 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:9004009 Reperfusion Injury ISO RGD:621506 D RGD:9068941 20200609 RGD PMID:16699462|REF_RGD_ID:1582310 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:9004009 Reperfusion Injury ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20302854 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:9004484 Sepsis treatment ISO RGD:621506 D RGD:9068941 20210827 RGD PMID:14662889|REF_RGD_ID:126928138 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:9004590 Acute Liver Failure ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17185352 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:9005666 Contrast-Induced Nephropathy treatment ISO RGD:621506 D RGD:9068941 20200609 RGD PMID:27781957|REF_RGD_ID:13782262 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:9005930 Endotoxemia ISO RGD:621506 D RGD:9068941 20210827 RGD protein:increased phophorylation:hippocampus (rat) PMID:12207162|REF_RGD_ID:150340687 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:9006205 Animal Disease Models ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:9007096 Stroke ISO RGD:621506 D RGD:9068941 20200609 RGD PMID:10773432|REF_RGD_ID:1582317 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:9007417 Pseudomonas Infections ameliorates ISO RGD:732272 D RGD:9068941 20210827 RGD associated with Pneumonia, Ventilator-Associated PMID:27506464|REF_RGD_ID:150340682 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21726611 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:621506 D RGD:9068941 20200609 RGD PMID:12883833|PMID:15309413|REF_RGD_ID:1582311|REF_RGD_ID:1582312 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:621506 D RGD:9068941 20220923 RGD PMID:31583047|REF_RGD_ID:155230831 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:9008114 Helicobacter Infections ISO RGD:732271 D RGD:9068941 20210827 RGD protein:increased expression:pyloric antrum (human) PMID:17643099|REF_RGD_ID:150340691 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:621506 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:pancreatic islet: PMID:21911753|REF_RGD_ID:13506785 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732271 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:pancreatic islet: PMID:21911753|REF_RGD_ID:13506785 12085800 MAPK8 mitogen-activated protein kinase 8 gene DOID:9452 fatty liver disease ISO RGD:732272 D RGD:9068941 20200609 RGD PMID:21540183|REF_RGD_ID:9585751 12085832 GPR20 G protein-coupled receptor 20 gene DOID:630 genetic disease ISO RGD:733771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085838 ZNF785 zinc finger protein 785 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1602069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12085838 ZNF785 zinc finger protein 785 gene DOID:630 genetic disease ISO RGD:1602069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085846 TMEM170B transmembrane protein 170B gene DOID:630 genetic disease ISO RGD:2293893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085857 SLAMF1 signaling lymphocytic activation molecule family member 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1344109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12085857 SLAMF1 signaling lymphocytic activation molecule family member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1344109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12085857 SLAMF1 signaling lymphocytic activation molecule family member 1 gene DOID:630 genetic disease ISO RGD:1344109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085857 SLAMF1 signaling lymphocytic activation molecule family member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12085868 EIF3H eukaryotic translation initiation factor 3 subunit H gene DOID:0080508 Cornelia de Lange syndrome 4 ISO RGD:1351668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 4 PMID:28492532 12085868 EIF3H eukaryotic translation initiation factor 3 subunit H gene DOID:10283 prostate cancer ISO RGD:1351668 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:10362802|REF_RGD_ID:2289902 12085868 EIF3H eukaryotic translation initiation factor 3 subunit H gene DOID:10283 prostate cancer disease_progression ISO RGD:1351668 D RGD:9068941 20200609 RGD DNA:amplification PMID:11733359|REF_RGD_ID:2289901 12085868 EIF3H eukaryotic translation initiation factor 3 subunit H gene DOID:10286 prostate carcinoma ISO RGD:1351668 D RGD:9068941 20200609 RGD DNA:amplification PMID:14997205|REF_RGD_ID:2289900 12085868 EIF3H eukaryotic translation initiation factor 3 subunit H gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1351668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12085868 EIF3H eukaryotic translation initiation factor 3 subunit H gene DOID:1612 breast cancer ISO RGD:1351668 D RGD:9068941 20200609 RGD DNA:amplification PMID:10362802|REF_RGD_ID:2289902 12085868 EIF3H eukaryotic translation initiation factor 3 subunit H gene DOID:206 hereditary multiple exostoses ISO RGD:1351668 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 12085868 EIF3H eukaryotic translation initiation factor 3 subunit H gene DOID:630 genetic disease ISO RGD:1351668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085868 EIF3H eukaryotic translation initiation factor 3 subunit H gene DOID:684 hepatocellular carcinoma ISO RGD:1351668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14578863 12085868 EIF3H eukaryotic translation initiation factor 3 subunit H gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14997205 12085868 EIF3H eukaryotic translation initiation factor 3 subunit H gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18372905 12085880 ACAD9 acyl-CoA dehydrogenase family member 9 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1348095 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:16199547|PMID:20816094|PMID:20929961|PMID:21057504|PMID:22200994|PMID:22277967|PMID:22499348|PMID:25326637|PMID:25721401|PMID:25741868|PMID:26467025|PMID:26669660|PMID:27290639|PMID:28279569|PMID:28492532|PMID:28529009|PMID:30025539|PMID:30831263|PMID:31658717|PMID:34023438|PMID:34440436 12085880 ACAD9 acyl-CoA dehydrogenase family member 9 gene DOID:0110159 Charcot-Marie-Tooth disease type 2B ISO RGD:1348095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B PMID:28492532 12085880 ACAD9 acyl-CoA dehydrogenase family member 9 gene DOID:0111947 immunodeficiency 21 ISO RGD:1348095 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:22147895|PMID:23223431|PMID:28492532 12085880 ACAD9 acyl-CoA dehydrogenase family member 9 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1348095 D RGD:7240710 20180130 OMIM 12085880 ACAD9 acyl-CoA dehydrogenase family member 9 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1348095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:16199547|PMID:17564966|PMID:17576681|PMID:20816094|PMID:20929961|PMID:21057504|PMID:22200994|PMID:22277967|PMID:22499348|PMID:23836383|PMID:25326637|PMID:25721401|PMID:25741868|PMID:26467025|PMID:26475292|PMID:26669660|PMID:27233227|PMID:27290639|PMID:27438479|PMID:27884173|PMID:28279569|PMID:28492532|PMID:28529009|PMID:30025539|PMID:30311383|PMID:30831263|PMID:31658717|PMID:31665838|PMID:32313153|PMID:32746448|PMID:34023438|PMID:34440436|PMID:7599230|PMID:9536098 12085880 ACAD9 acyl-CoA dehydrogenase family member 9 gene DOID:630 genetic disease ISO RGD:1348095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:25326637|PMID:25721401|PMID:25741868|PMID:26475292|PMID:27233227|PMID:28492532|PMID:30831263|PMID:9536098 12085880 ACAD9 acyl-CoA dehydrogenase family member 9 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1348095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532 12085880 ACAD9 acyl-CoA dehydrogenase family member 9 gene DOID:9270 alkaptonuria ISO RGD:1348095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12085908 SLC46A3 solute carrier family 46 member 3 gene DOID:10283 prostate cancer ISO RGD:1606669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12085908 SLC46A3 solute carrier family 46 member 3 gene DOID:630 genetic disease ISO RGD:1606669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085918 LOC478702 tubulin beta-2B chain gene DOID:0050453 lissencephaly ISO RGD:1602407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:11425694|PMID:23001566|PMID:25741868|PMID:29671837 12085918 LOC478702 tubulin beta-2B chain gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1602407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19465910 12085918 LOC478702 tubulin beta-2B chain gene DOID:0090132 complex cortical dysplasia with other brain malformations 7 ISO RGD:1602407 D RGD:7240710 20180130 OMIM 12085918 LOC478702 tubulin beta-2B chain gene DOID:0090132 complex cortical dysplasia with other brain malformations 7 ISO RGD:1602407 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 7 PMID:11425694|PMID:18414213|PMID:19465910|PMID:22333901|PMID:23001566|PMID:25059107|PMID:25741868|PMID:26467025|PMID:26732629|PMID:28492532|PMID:29671837 12085918 LOC478702 tubulin beta-2B chain gene DOID:0090137 complex cortical dysplasia with other brain malformations 1 ISO RGD:1602407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 1 PMID:25741868 12085918 LOC478702 tubulin beta-2B chain gene DOID:305 carcinoma ISO RGD:1602407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12085918 LOC478702 tubulin beta-2B chain gene DOID:630 genetic disease ISO RGD:1602407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:22591407|PMID:23001566|PMID:25741868|PMID:26467025|PMID:26732629|PMID:28013290|PMID:28835377|PMID:9628483 12085918 LOC478702 tubulin beta-2B chain gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1602407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12085918 LOC478702 tubulin beta-2B chain gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1602407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12085926 STRADB STE20 related adaptor beta gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1350818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12085926 STRADB STE20 related adaptor beta gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1350818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12085926 STRADB STE20 related adaptor beta gene DOID:0110983 Joubert syndrome 14 ISO RGD:1350818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 14 PMID:28492532 12085926 STRADB STE20 related adaptor beta gene DOID:630 genetic disease ISO RGD:1350818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085926 STRADB STE20 related adaptor beta gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1350818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12085926 STRADB STE20 related adaptor beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12085926 STRADB STE20 related adaptor beta gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1350818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12085945 RAMAC RNA guanine-7 methyltransferase activating subunit gene DOID:13938 amenorrhea ISO RGD:1320685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12085945 RAMAC RNA guanine-7 methyltransferase activating subunit gene DOID:2717 Bloom syndrome ISO RGD:1320685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12085945 RAMAC RNA guanine-7 methyltransferase activating subunit gene DOID:630 genetic disease ISO RGD:1320685 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085945 RAMAC RNA guanine-7 methyltransferase activating subunit gene DOID:9256 colorectal cancer ISO RGD:1320685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12085963 UBAP2L ubiquitin associated protein 2 like gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1354268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12085963 UBAP2L ubiquitin associated protein 2 like gene DOID:0111940 immunodeficiency 42 ISO RGD:1354268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12085963 UBAP2L ubiquitin associated protein 2 like gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1354268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12085963 UBAP2L ubiquitin associated protein 2 like gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1354268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 12085963 UBAP2L ubiquitin associated protein 2 like gene DOID:1540 parathyroid carcinoma ISO RGD:1354268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12085963 UBAP2L ubiquitin associated protein 2 like gene DOID:5812 MHC class II deficiency ISO RGD:1354268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12085963 UBAP2L ubiquitin associated protein 2 like gene DOID:630 genetic disease ISO RGD:1354268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12085963 UBAP2L ubiquitin associated protein 2 like gene DOID:9008086 Developmental Disabilities ISO RGD:1354268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12085963 UBAP2L ubiquitin associated protein 2 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12086018 LOC480493 leucine-rich repeat-containing protein 37A3-like gene DOID:10283 prostate cancer ISO RGD:1605801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12086018 LOC480493 leucine-rich repeat-containing protein 37A3-like gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1605801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 12086018 LOC480493 leucine-rich repeat-containing protein 37A3-like gene DOID:630 genetic disease ISO RGD:1605801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086019 RUNDC3A RUN domain containing 3A gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1605704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 12086019 RUNDC3A RUN domain containing 3A gene DOID:630 genetic disease ISO RGD:1605704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086044 LOC480840 uncharacterized LOC480840 gene DOID:0050777 Joubert syndrome ISO RGD:1350228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:25674159|PMID:27081566|PMID:28492532 12086044 LOC480840 uncharacterized LOC480840 gene DOID:0080362 X-linked spondyloepiphyseal dysplasia tarda ISO RGD:1350228 D RGD:7240710 20181219 OMIM 12086044 LOC480840 uncharacterized LOC480840 gene DOID:0080362 X-linked spondyloepiphyseal dysplasia tarda ISO RGD:1350228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda, X-linked PMID:11326333|PMID:11349230|PMID:15221797|PMID:17576681|PMID:22563562|PMID:25741868|PMID:26252088|PMID:28492532|PMID:9536098 12086044 LOC480840 uncharacterized LOC480840 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1350228 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:10999831|PMID:25741868|PMID:9990351 12086044 LOC480840 uncharacterized LOC480840 gene DOID:0112284 spondyloepiphyseal dysplasia tarda ISO RGD:1350228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda PMID:10431248|PMID:10999831|PMID:11326333|PMID:11424925|PMID:12030902|PMID:12446987|PMID:12919139|PMID:14755465|PMID:15221797|PMID:17576681|PMID:18414213|PMID:22563562|PMID:23656395|PMID:25741868|PMID:26252088|PMID:28492532|PMID:9536098|PMID:9990351 12086044 LOC480840 uncharacterized LOC480840 gene DOID:12849 autistic disorder ISO RGD:1350228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12086044 LOC480840 uncharacterized LOC480840 gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:1350228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita 12086044 LOC480840 uncharacterized LOC480840 gene DOID:2256 osteochondrodysplasia ISO RGD:1350228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12086044 LOC480840 uncharacterized LOC480840 gene DOID:630 genetic disease ISO RGD:1350228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11326333|PMID:15221797|PMID:17576681|PMID:22563562|PMID:25741868|PMID:26252088|PMID:28492532|PMID:9536098 12086044 LOC480840 uncharacterized LOC480840 gene DOID:65 connective tissue disease ISO RGD:1350228 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:11424925|PMID:25741868 12086044 LOC480840 uncharacterized LOC480840 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12086053 PROKR1 prokineticin receptor 1 gene DOID:10487 Hirschsprung's disease ISO RGD:733659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 12086053 PROKR1 prokineticin receptor 1 gene DOID:2843 long QT syndrome ISO RGD:733659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12086053 PROKR1 prokineticin receptor 1 gene DOID:630 genetic disease ISO RGD:733659 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12086053 PROKR1 prokineticin receptor 1 gene DOID:9000641 Pain ISO RGD:733659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16793879 12086053 PROKR1 prokineticin receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:733659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16793879 12086060 DLX5 distal-less homeobox 5 gene DOID:0080006 bone development disease ISO RGD:733723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10433909 12086060 DLX5 distal-less homeobox 5 gene DOID:0090020 split hand-foot malformation ISO RGD:733723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12086060 DLX5 distal-less homeobox 5 gene DOID:0090021 split hand-foot malformation 1 ISO RGD:733723 D RGD:7240710 20200520 OMIM 12086060 DLX5 distal-less homeobox 5 gene DOID:0090021 split hand-foot malformation 1 ISO RGD:733723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 1 PMID:24496061|PMID:25196357 12086060 DLX5 distal-less homeobox 5 gene DOID:0090024 split hand-foot malformation 1 with sensorineural hearing loss ISO RGD:733723 D RGD:7240710 20180130 OMIM 12086060 DLX5 distal-less homeobox 5 gene DOID:0090024 split hand-foot malformation 1 with sensorineural hearing loss ISO RGD:733723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss PMID:22121204 12086060 DLX5 distal-less homeobox 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12086060 DLX5 distal-less homeobox 5 gene DOID:630 genetic disease ISO RGD:733723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12086060 DLX5 distal-less homeobox 5 gene DOID:9003996 Birth Weight ISO RGD:733723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31082282 12086060 DLX5 distal-less homeobox 5 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10433909|PMID:10433912|PMID:14666512 12086067 OR9G4 olfactory receptor family 9 subfamily G member 4 gene DOID:1059 intellectual disability ISO RGD:1349445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12086067 OR9G4 olfactory receptor family 9 subfamily G member 4 gene DOID:630 genetic disease ISO RGD:1349445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086071 QPCTL glutaminyl-peptide cyclotransferase like gene DOID:630 genetic disease ISO RGD:1350934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086089 ZNF875 zinc finger protein 875 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1344548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12086089 ZNF875 zinc finger protein 875 gene DOID:630 genetic disease ISO RGD:1344548 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086099 SOX7 SRY-box transcription factor 7 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1320708 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 12086099 SOX7 SRY-box transcription factor 7 gene DOID:630 genetic disease ISO RGD:1320707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086099 SOX7 SRY-box transcription factor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12086105 KRT84 keratin 84 gene DOID:630 genetic disease ISO RGD:1343377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086117 N6AMT1 N-6 adenine-specific DNA methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1323512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086136 WDR49 WD repeat domain 49 gene DOID:10283 prostate cancer ISO RGD:1354020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12086136 WDR49 WD repeat domain 49 gene DOID:630 genetic disease ISO RGD:1354020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086158 SLITRK4 SLIT and NTRK like family member 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12086158 SLITRK4 SLIT and NTRK like family member 4 gene DOID:0080600 COVID-19 ISO RGD:1348582 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12086158 SLITRK4 SLIT and NTRK like family member 4 gene DOID:12849 autistic disorder ISO RGD:1348582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12086158 SLITRK4 SLIT and NTRK like family member 4 gene DOID:630 genetic disease ISO RGD:1348582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086173 CAMKV CaM kinase like vesicle associated gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12086173 CAMKV CaM kinase like vesicle associated gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12086173 CAMKV CaM kinase like vesicle associated gene DOID:630 genetic disease ISO RGD:1604302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086173 CAMKV CaM kinase like vesicle associated gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1604302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12086173 CAMKV CaM kinase like vesicle associated gene DOID:9562 primary ciliary dyskinesia ISO RGD:1604302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12086192 NIBAN3 niban apoptosis regulator 3 gene DOID:630 genetic disease ISO RGD:1604724 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086212 IQCD IQ motif containing D gene DOID:630 genetic disease ISO RGD:1346446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086222 SHC2 SHC adaptor protein 2 gene DOID:630 genetic disease ISO RGD:1350366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086247 RAX2 retina and anterior neural fold homeobox 2 gene DOID:0050572 cone-rod dystrophy ISO RGD:1606205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant 12086247 RAX2 retina and anterior neural fold homeobox 2 gene DOID:0110018 age related macular degeneration 6 ISO RGD:1606205 D RGD:7240710 20180130 OMIM 12086247 RAX2 retina and anterior neural fold homeobox 2 gene DOID:0110018 age related macular degeneration 6 ISO RGD:1606205 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 6 PMID:15028672|PMID:25741868|PMID:25986607|PMID:28492532|PMID:30377383 12086247 RAX2 retina and anterior neural fold homeobox 2 gene DOID:0111018 cone-rod dystrophy 11 ISO RGD:1606205 D RGD:7240710 20180130 OMIM 12086247 RAX2 retina and anterior neural fold homeobox 2 gene DOID:0111018 cone-rod dystrophy 11 ISO RGD:1606205 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 11 PMID:15028672|PMID:25741868|PMID:25789692|PMID:25986607|PMID:28492532|PMID:30377383 12086247 RAX2 retina and anterior neural fold homeobox 2 gene DOID:13938 amenorrhea ISO RGD:1606205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12086247 RAX2 retina and anterior neural fold homeobox 2 gene DOID:4448 macular degeneration ISO RGD:1606205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular degeneration 12086247 RAX2 retina and anterior neural fold homeobox 2 gene DOID:630 genetic disease ISO RGD:1606205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12086247 RAX2 retina and anterior neural fold homeobox 2 gene DOID:8466 retinal degeneration ISO RGD:1606205 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15028672 12086247 RAX2 retina and anterior neural fold homeobox 2 gene DOID:8501 fundus dystrophy ISO RGD:1606205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25789692|PMID:28492532|PMID:30377383 12086247 RAX2 retina and anterior neural fold homeobox 2 gene DOID:9008145 Retinitis Pigmentosa 95 ISO RGD:1606205 D RGD:7240710 20221102 OMIM 12086247 RAX2 retina and anterior neural fold homeobox 2 gene DOID:9008145 Retinitis Pigmentosa 95 ISO RGD:1606205 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 95 PMID:28492532|PMID:30377383 12086253 LSM7 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1313330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12086253 LSM7 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:10579 leukodystrophy ISO RGD:1313330 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukodystrophy 12086253 LSM7 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:630 genetic disease ISO RGD:1313330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086253 LSM7 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12086261 DOLPP1 dolichyldiphosphatase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12086261 DOLPP1 dolichyldiphosphatase 1 gene DOID:630 genetic disease ISO RGD:1316643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086273 FIP1L1 factor interacting with PAPOLA and CPSF1 gene DOID:6000 congestive heart failure ISO RGD:1319628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28347583 12086273 FIP1L1 factor interacting with PAPOLA and CPSF1 gene DOID:630 genetic disease ISO RGD:1319628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086273 FIP1L1 factor interacting with PAPOLA and CPSF1 gene DOID:9001371 Eosinophilia ISO RGD:1319628 D RGD:9068941 20200609 RGD DNA:gene fusion PMID:23114151|REF_RGD_ID:11075088 12086273 FIP1L1 factor interacting with PAPOLA and CPSF1 gene DOID:9001997 Pdgfra-Associated Chronic Eosinophilic Leukemia ISO RGD:1319628 D RGD:9068941 20200609 RGD DNA:gene fusion PMID:22806436|REF_RGD_ID:11075089 12086273 FIP1L1 factor interacting with PAPOLA and CPSF1 gene DOID:999 hypereosinophilic syndrome ISO RGD:1319628 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:16778211|PMID:28347583|PMID:31036733 12086295 TAS2R3 taste 2 receptor member 3 gene DOID:0080690 RASopathy ISO RGD:1345631 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12086295 TAS2R3 taste 2 receptor member 3 gene DOID:630 genetic disease ISO RGD:1345631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086295 TAS2R3 taste 2 receptor member 3 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1345631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 12086300 IRF4 interferon regulatory factor 4 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1317594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 12086300 IRF4 interferon regulatory factor 4 gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:1317594 D RGD:9068941 20200609 RGD DNA:translocation PMID:18987657|REF_RGD_ID:11526155 12086300 IRF4 interferon regulatory factor 4 gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:1317594 D RGD:9068941 20200609 RGD PMID:15701085|REF_RGD_ID:11530023 12086300 IRF4 interferon regulatory factor 4 gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1317594 D RGD:9068941 20200609 RGD DNA:translocation PMID:18987657|REF_RGD_ID:11526155 12086300 IRF4 interferon regulatory factor 4 gene DOID:0050873 follicular lymphoma severity ISO RGD:1317594 D RGD:9068941 20200609 RGD PMID:17296585|REF_RGD_ID:11530032 12086300 IRF4 interferon regulatory factor 4 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1317594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 12086300 IRF4 interferon regulatory factor 4 gene DOID:0060901 lymphoplasmacytic lymphoma ISO RGD:1317594 D RGD:9068941 20200609 RGD PMID:23355206|REF_RGD_ID:11530052 12086300 IRF4 interferon regulatory factor 4 gene DOID:0070004 myeloid neoplasm ISO RGD:1317595 D RGD:9068941 20200609 RGD PMID:20585039|REF_RGD_ID:11530030 12086300 IRF4 interferon regulatory factor 4 gene DOID:0080600 COVID-19 ISO RGD:1317594 D RGD:9068941 20200709 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 12086300 IRF4 interferon regulatory factor 4 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1317595 D RGD:9068941 20200609 RGD PMID:20585039|PMID:21818355|PMID:25006123|REF_RGD_ID:11526159|REF_RGD_ID:11530020|REF_RGD_ID:11530030 12086300 IRF4 interferon regulatory factor 4 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1317594 D RGD:9068941 20200609 RGD DNA:SNP: :rs872071 (human) PMID:20731705|REF_RGD_ID:11530029 12086300 IRF4 interferon regulatory factor 4 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1317594 D RGD:9068941 20200609 RGD DNA:SNPs:3' utr:multiple PMID:20123861|REF_RGD_ID:11530031 12086300 IRF4 interferon regulatory factor 4 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1317594 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.L116R (human) PMID:21791429|REF_RGD_ID:11526158 12086300 IRF4 interferon regulatory factor 4 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1317595 D RGD:9068941 20200609 RGD PMID:23926303|REF_RGD_ID:11530026 12086300 IRF4 interferon regulatory factor 4 gene DOID:1040 chronic lymphocytic leukemia disease_progression ISO RGD:1317594 D RGD:9068941 20200609 RGD PMID:20090783|REF_RGD_ID:11530021 12086300 IRF4 interferon regulatory factor 4 gene DOID:1040 chronic lymphocytic leukemia disease_progression ISO RGD:1317595 D RGD:9068941 20200609 RGD PMID:23897826|REF_RGD_ID:11526156 12086300 IRF4 interferon regulatory factor 4 gene DOID:1240 leukemia disease_progression ISO RGD:1317594 D RGD:9068941 20200609 RGD PMID:23977280|REF_RGD_ID:11526157 12086300 IRF4 interferon regulatory factor 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317594 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:23589561|REF_RGD_ID:11530060 12086300 IRF4 interferon regulatory factor 4 gene DOID:3525 middle cerebral artery infarction ISO RGD:1308050 D RGD:9068941 20200609 RGD PMID:25652434|REF_RGD_ID:11530061 12086300 IRF4 interferon regulatory factor 4 gene DOID:630 genetic disease ISO RGD:1317594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12086300 IRF4 interferon regulatory factor 4 gene DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 ISO RGD:1317594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 1 PMID:25741868 12086300 IRF4 interferon regulatory factor 4 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1317594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18758461 12086300 IRF4 interferon regulatory factor 4 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:1317594 D RGD:9068941 20200609 RGD PMID:12079517|PMID:12393648|REF_RGD_ID:11526160|REF_RGD_ID:11530024 12086300 IRF4 interferon regulatory factor 4 gene DOID:9003936 Cardiomegaly ISO RGD:1317595 D RGD:9068941 20200609 RGD PMID:23589561|REF_RGD_ID:11530060 12086300 IRF4 interferon regulatory factor 4 gene DOID:9005172 Lung Neoplasms ISO RGD:1317594 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35915169 12086300 IRF4 interferon regulatory factor 4 gene DOID:9006853 Skin/Hair/Eye Pigmentation, Variation In, 8 ISO RGD:1317594 D RGD:7240710 20221214 OMIM 12086300 IRF4 interferon regulatory factor 4 gene DOID:9006853 Skin/Hair/Eye Pigmentation, Variation In, 8 ISO RGD:1317594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 8 PMID:18483556|PMID:24267888|PMID:25631878 12086300 IRF4 interferon regulatory factor 4 gene DOID:9538 multiple myeloma ISO RGD:1317594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18568025 12086300 IRF4 interferon regulatory factor 4 gene DOID:9538 multiple myeloma ISO RGD:1317594 D RGD:9068941 20200609 RGD DNA:translocation PMID:10557056|REF_RGD_ID:11526161 12086300 IRF4 interferon regulatory factor 4 gene DOID:9538 multiple myeloma disease_progression ISO RGD:1317594 D RGD:9068941 20200609 RGD PMID:17690696|REF_RGD_ID:11530019 12086300 IRF4 interferon regulatory factor 4 gene DOID:9538 multiple myeloma treatment ISO RGD:1317594 D RGD:9068941 20200609 RGD PMID:21707574|REF_RGD_ID:11530055 12086300 IRF4 interferon regulatory factor 4 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1317594 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs12203592 (human) PMID:19897031|REF_RGD_ID:11526162 12086314 ZNF79 zinc finger protein 79 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12086314 ZNF79 zinc finger protein 79 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1350135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12086314 ZNF79 zinc finger protein 79 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12086314 ZNF79 zinc finger protein 79 gene DOID:630 genetic disease ISO RGD:1350135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086323 ZNF510 zinc finger protein 510 gene DOID:1059 intellectual disability ISO RGD:1345526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12086323 ZNF510 zinc finger protein 510 gene DOID:630 genetic disease ISO RGD:1345526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086354 LOC100688969 glyceraldehyde-3-phosphate dehydrogenase-like gene DOID:0050827 rheumatic heart disease ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:26823728|REF_RGD_ID:13792679 12086354 LOC100688969 glyceraldehyde-3-phosphate dehydrogenase-like gene DOID:0050866 oral squamous cell carcinoma ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:27375172|REF_RGD_ID:13792673 12086354 LOC100688969 glyceraldehyde-3-phosphate dehydrogenase-like gene DOID:0060108 brain glioma ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:26032618|REF_RGD_ID:13792685 12086354 LOC100688969 glyceraldehyde-3-phosphate dehydrogenase-like gene DOID:10652 Alzheimer's disease ISO RGD:10619 D RGD:9068941 20200609 RGD protein:decreased activity:cerebral cortex, cerebellum PMID:17324518|REF_RGD_ID:13792614 12086354 LOC100688969 glyceraldehyde-3-phosphate dehydrogenase-like gene DOID:10652 Alzheimer's disease ISO RGD:2661 D RGD:9068941 20200609 RGD protein:decreased activity:cerebral cortex, hippocampus PMID:17324518|REF_RGD_ID:13792614 12086354 LOC100688969 glyceraldehyde-3-phosphate dehydrogenase-like gene DOID:12858 Huntington's disease ISO RGD:10619 D RGD:9068941 20200609 RGD PMID:26268247|REF_RGD_ID:13792684 12086354 LOC100688969 glyceraldehyde-3-phosphate dehydrogenase-like gene DOID:1826 epilepsy ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:30143487|REF_RGD_ID:13792618 12086354 LOC100688969 glyceraldehyde-3-phosphate dehydrogenase-like gene DOID:3525 middle cerebral artery infarction ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:25882840|REF_RGD_ID:13792686 12086354 LOC100688969 glyceraldehyde-3-phosphate dehydrogenase-like gene DOID:8947 diabetic retinopathy ISO RGD:2661 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18852331|REF_RGD_ID:2315975 12086354 LOC100688969 glyceraldehyde-3-phosphate dehydrogenase-like gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:27256506|REF_RGD_ID:13792677 12086354 LOC100688969 glyceraldehyde-3-phosphate dehydrogenase-like gene DOID:9000888 Pregnancy in Diabetics ISO RGD:2661 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression,decreased activity:embryo PMID:12716756|REF_RGD_ID:2315979 12086354 LOC100688969 glyceraldehyde-3-phosphate dehydrogenase-like gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:30195603|REF_RGD_ID:13792615 12086354 LOC100688969 glyceraldehyde-3-phosphate dehydrogenase-like gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:27655796|REF_RGD_ID:13792671 12086354 LOC100688969 glyceraldehyde-3-phosphate dehydrogenase-like gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:27129213|REF_RGD_ID:11574725 12086354 LOC100688969 glyceraldehyde-3-phosphate dehydrogenase-like gene DOID:9352 type 2 diabetes mellitus ISO RGD:10619 D RGD:9068941 20200609 RGD protein:decreased acetylation PMID:28258188|REF_RGD_ID:13792662 12086354 LOC100688969 glyceraldehyde-3-phosphate dehydrogenase-like gene DOID:9970 obesity treatment ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:27987997|REF_RGD_ID:13792668 12086358 RBM15B RNA binding motif protein 15B gene DOID:630 genetic disease ISO RGD:1350628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086363 SFXN2 sideroflexin 2 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1314569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:22508808|PMID:25403219|PMID:28492532|PMID:31639285 12086363 SFXN2 sideroflexin 2 gene DOID:630 genetic disease ISO RGD:1314569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086385 DXO decapping exoribonuclease gene DOID:0050553 JMP syndrome ISO RGD:1348619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12086385 DXO decapping exoribonuclease gene DOID:630 genetic disease ISO RGD:1348619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086394 OR6B2 olfactory receptor family 6 subfamily B member 2 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1348824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12086394 OR6B2 olfactory receptor family 6 subfamily B member 2 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1348824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12086394 OR6B2 olfactory receptor family 6 subfamily B member 2 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1348824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 12086394 OR6B2 olfactory receptor family 6 subfamily B member 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1348824 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12086394 OR6B2 olfactory receptor family 6 subfamily B member 2 gene DOID:1059 intellectual disability ISO RGD:1348824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12086394 OR6B2 olfactory receptor family 6 subfamily B member 2 gene DOID:630 genetic disease ISO RGD:1348824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086394 OR6B2 olfactory receptor family 6 subfamily B member 2 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1348824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12086397 MIR92A-2 microRNA mir-92a-2 gene DOID:12849 autistic disorder ISO RGD:1347660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12086400 MIR582 microRNA mir-582 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1603093 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12086429 LOC102154391 zinc finger protein 77-like gene DOID:630 genetic disease ISO RGD:1343175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086485 HSD17B13 hydroxysteroid 17-beta dehydrogenase 13 gene DOID:630 genetic disease ISO RGD:1342842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086485 HSD17B13 hydroxysteroid 17-beta dehydrogenase 13 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1342842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12086485 HSD17B13 hydroxysteroid 17-beta dehydrogenase 13 gene DOID:9452 fatty liver disease ISO RGD:1342842 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: HSD17B13 POLYMORPHISM PMID:29562163|PMID:34930143 12086497 ZNF180 zinc finger protein 180 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1348239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12086497 ZNF180 zinc finger protein 180 gene DOID:630 genetic disease ISO RGD:1348239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0040088 autoimmune uveitis treatment ISO RGD:1345686 D RGD:9068941 20211105 RGD human recombinant protein in a rat model PMID:28011398|REF_RGD_ID:150520199 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0050012 chikungunya ISO RGD:1345686 D RGD:9068941 20210122 RGD protein:increased expression:blood serum (human) PMID:31365117|REF_RGD_ID:40925935 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0050598 extrapulmonary tuberculosis ISO RGD:1345686 D RGD:9068941 20201029 RGD protein:increased expression:serum (human) PMID:16001981|REF_RGD_ID:39939055 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1345686 D RGD:9068941 20211022 RGD mRNA:increased expression:head, neck (human) PMID:31452775|REF_RGD_ID:150520018 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0060180 colitis ISO RGD:1617608 D RGD:9068941 20200827 RGD associated with Helicobacter Infections;mRNA:decreased expression:colon (mouse, Helicobacter hepaticus) PMID:17242461|REF_RGD_ID:38549339 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 ISO RGD:1345686 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 ISO RGD:1345686 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 ISO RGD:1345686 D RGD:9068941 20200618 RGD protein:increased expression:serum: PMID:32416070|REF_RGD_ID:30296676 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 ISO RGD:1345686 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 ISO RGD:1345686 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 ISO RGD:1345686 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:32161940 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 disease_progression ISO RGD:1345686 D RGD:9068941 20200618 RGD associated with diabetes mellitus PMID:32345579|REF_RGD_ID:30296681 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 exacerbates ISO RGD:1345686 D RGD:9068941 20211126 RGD protein:increased expression:blood plasma (human) PMID:33197260|REF_RGD_ID:150523790 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 severity ISO RGD:1345686 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 severity ISO RGD:1345686 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32297828|PMID:32365221|PMID:32427582|PMID:32434211|REF_RGD_ID:30309200|REF_RGD_ID:30310229|REF_RGD_ID:30310238|REF_RGD_ID:32716368 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0080784 urinary tract infection treatment ISO RGD:1345686 D RGD:9068941 20211105 RGD human recombinant protein in a mouse model PMID:28011398|REF_RGD_ID:150520199 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:0080810 acute asthma treatment ISO RGD:1345686 D RGD:9068941 20210122 RGD PMID:30059697|REF_RGD_ID:39939057 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:10113 trypanosomiasis disease_progression ISO RGD:1345686 D RGD:9068941 20211112 RGD protein:increased expression:cerebrospinal fluid (human) PMID:25375156|REF_RGD_ID:150521552 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:1024 leprosy severity ISO RGD:1345686 D RGD:9068941 20211112 RGD DNA:SNP:promoter:g.-353T>A (rs4073) (human) PMID:30303246|REF_RGD_ID:40400755 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:10459 common cold treatment ISO RGD:1345686 D RGD:9068941 20211112 RGD PMID:28343401|REF_RGD_ID:150521550 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:10533 viral pneumonia ISO RGD:1345686 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:10754 otitis media ISO RGD:8772136 D RGD:9068941 20200609 RGD PMID:10085040|REF_RGD_ID:11553900 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:11054 urinary bladder cancer ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22015448 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:11077 brucellosis susceptibility ISO RGD:1345686 D RGD:9068941 20211126 RGD DNA:SNP:promoter:g.-251A>T (human) PMID:24076593|REF_RGD_ID:150523788 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:11265 trachoma susceptibility ISO RGD:1345686 D RGD:9068941 20211105 RGD DNA:SNP:promoter:g.-251A>T (rs4073) (human) PMID:20015396|REF_RGD_ID:150520200 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:11394 adult respiratory distress syndrome severity ISO RGD:1345686 D RGD:9068941 20211126 RGD associated with toxic shock syndrome;DNA:SNP:promoter:g.-251A>T (human) PMID:22897124|REF_RGD_ID:150523785 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:11934 head and neck cancer exacerbates ISO RGD:1345686 D RGD:9068941 20211022 RGD mRNA:increased expression:head, neck (human) PMID:31452775|REF_RGD_ID:150520018 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:1205 allergic disease ISO RGD:1617608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:12053 cryptococcosis ISO RGD:1617608 D RGD:9068941 20200827 RGD mRNA:increased expression:lung (mouse) PMID:27596810|REF_RGD_ID:38549345 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:12236 primary biliary cholangitis ISO RGD:1345686 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:21731723|REF_RGD_ID:26884357 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:12351 alcoholic hepatitis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26220752 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1345686 D RGD:9068941 20211112 RGD protein:increased expression:nasopharynx(human) PMID:29325581|REF_RGD_ID:150521551 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:13078 eumycotic mycetoma ISO RGD:1345686 D RGD:9068941 20211126 RGD DNA:SNP:promoter:g.-251T>A (human) PMID:17709521|REF_RGD_ID:150523787 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:13241 Behcet's disease ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8712863 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:13272 Klebsiella pneumonia ISO RGD:1617608 D RGD:9068941 20200827 RGD PMID:11207292|REF_RGD_ID:38549344 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:13580 cholestasis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:13608 biliary atresia ISO RGD:1345686 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:24493287|REF_RGD_ID:26884361 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:13976 peptic esophagitis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18193101 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:14250 Down syndrome ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16289943 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:1485 cystic fibrosis ISO RGD:1345686 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:20818377|REF_RGD_ID:5135034 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:1749 squamous cell carcinoma ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15956251 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:1790 malignant mesothelioma ISO RGD:1345686 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674|PMID:28377727 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:1793 pancreatic cancer ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18307536 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:1852 intrahepatic cholestasis ISO RGD:1345686 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:24493287|REF_RGD_ID:26884361 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:1883 hepatitis C ISO RGD:1345686 D RGD:9068941 20211112 RGD protein:increased expression:blood serum (human) PMID:28163109|REF_RGD_ID:150521548 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:2272 vulvovaginal candidiasis ISO RGD:1345686 D RGD:9068941 20211126 RGD associated with human immunodeficiency virus infectious disease;protein:increased expression:vaginal fluid (human) PMID:18243333|REF_RGD_ID:150523783 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:2377 multiple sclerosis ISO RGD:1345686 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20138139|REF_RGD_ID:5134999 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:2755 Mycobacterium avium complex disease ISO RGD:1345686 D RGD:9068941 20211126 RGD protein:increased expression:blood plasma, erythrocyte (human) PMID:26300588|REF_RGD_ID:11250849 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:289 endometriosis ISO RGD:1345686 D RGD:9068941 20211112 RGD protein:increased expression:peritoneal fluid (human) PMID:25704572|PMID:29962266|REF_RGD_ID:150520017|REF_RGD_ID:150521547 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:2921 glomerulonephritis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10910440|PMID:9403216 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1345686 D RGD:9068941 20200625 RGD protein:increased expression:plasma (human) PMID:14514395|REF_RGD_ID:30309961 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1345686 D RGD:9068941 20200702 RGD protein:increased expression:bronchoalveolar lavage (human) PMID:15888207|REF_RGD_ID:34201108 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1345686 D RGD:9068941 20200709 RGD protein:increased expression:serum (human) PMID:15271897|REF_RGD_ID:32716401 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1345686 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1345686 D RGD:9068941 20200702 RGD protein:increased expression:blood (human) PMID:15472864|REF_RGD_ID:34888224 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1345686 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:16195357|REF_RGD_ID:30309218 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1345686 D RGD:9068941 20200619 RGD protein:increased expression:serum (human) PMID:15657466|REF_RGD_ID:30309219 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1345686 D RGD:9068941 20200702 RGD PMID:15865221|REF_RGD_ID:33769580 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:2957 pulmonary tuberculosis ISO RGD:1345686 D RGD:9068941 20201029 RGD protein:increased expression:serum (human) PMID:16001981|REF_RGD_ID:39939055 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:2957 pulmonary tuberculosis exacerbates ISO RGD:1345686 D RGD:9068941 20211126 RGD RNA:increased expression:blood plasma (human) PMID:27434276|REF_RGD_ID:150523784 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:299 adenocarcinoma ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18307536 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:3068 glioblastoma ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16356833 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15337792|PMID:23099361|PMID:28864214 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:321 tropical spastic paraparesis severity ISO RGD:1345686 D RGD:9068941 20201022 RGD protein:increased expression:plasma (human) PMID:26800845|REF_RGD_ID:39939014 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1345686 D RGD:9068941 20211022 RGD mRNA:increased expression:esophagus (human) PMID:31423201|REF_RGD_ID:150520019 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:3770 pulmonary fibrosis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17266442|PMID:17894541 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:1345686 D RGD:9068941 20211105 RGD human recombinant protein in a mouse model PMID:28011398|REF_RGD_ID:150520199 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15956251 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:399 tuberculosis ISO RGD:1345686 D RGD:9068941 20211126 RGD protein:increased expression:blood plasma, erythrocyte (human) PMID:26300588|REF_RGD_ID:11250849 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:399 tuberculosis susceptibility ISO RGD:1345686 D RGD:9068941 20211105 RGD DNA:SNP:promoter:-251A>T (human) PMID:32393145|REF_RGD_ID:150520198 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:4029 gastritis disease_progression ISO RGD:1345686 D RGD:9068941 20211126 RGD associated with Helicobacter Infections;DNA:SNP:promoter:g.-251T>A (human) PMID:20380014|REF_RGD_ID:150523786 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:4033 bacterial gastritis susceptibility ISO RGD:1345686 D RGD:9068941 20210129 RGD associated with Helicobacter Infections;DNA:SNP:promoter: -251T>A (rs4073) (human) PMID:31522447|REF_RGD_ID:40925938 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:4677 keratitis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23661603 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:5082 liver cirrhosis ISO RGD:1617608 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15763341 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1345686 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, serum (human) PMID:21731723|REF_RGD_ID:26884357 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345686 D RGD:9068941 20200806 RGD associated with pleural tuberculosis; PMID:21303360|REF_RGD_ID:36947878 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345686 D RGD:9068941 20211112 RGD protein:increased expression:cerebrospinal fluid (human) PMID:31217522|REF_RGD_ID:150521549 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:5517 stomach carcinoma susceptibility ISO RGD:1345686 D RGD:9068941 20210129 RGD associated with Helicobacter Infections;DNA:SNP:promoter: -251T>A (rs4073) (human) PMID:31522447|REF_RGD_ID:40925938 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:552 pneumonia ISO RGD:1345686 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:552 pneumonia ISO RGD:1617608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:559 acute pyelonephritis susceptibility ISO RGD:1345686 D RGD:9068941 20211112 RGD DNA:SNP:promoter:g.-251T>A (rs4073) (human) PMID:22325052|REF_RGD_ID:7207860 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:5773 oral submucous fibrosis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28984080 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:6000 congestive heart failure ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29959987 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:630 genetic disease ISO RGD:1345686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:6432 pulmonary hypertension ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15302794 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:646 viral encephalitis susceptibility ISO RGD:1345686 D RGD:9068941 20201218 RGD DNA:SNP:promoter: -251A>T (human) PMID:25751776|REF_RGD_ID:39939049 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:684 hepatocellular carcinoma ISO RGD:1345686 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:30523154|REF_RGD_ID:26884364 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:684 hepatocellular carcinoma ISO RGD:1345686 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12432545|PMID:35776891 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1345686 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:26078356|REF_RGD_ID:11526468 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1345686 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:multiple PMID:24381110|REF_RGD_ID:26884366 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:7148 rheumatoid arthritis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860|PMID:19192274 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:8506 bullous pemphigoid ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11359455 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:8506 bullous pemphigoid ISO RGD:1617608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11359455 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:8534 gastroesophageal reflux disease ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18193101|PMID:20616304 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:8557 oropharynx cancer ISO RGD:1345686 D RGD:9068941 20211022 RGD mRNA:increased expression:head, neck (human) PMID:31452775|REF_RGD_ID:150520018 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:8574 lichen disease ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18393961 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:8577 ulcerative colitis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12133438|PMID:15955209 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:8618 oral cavity cancer ISO RGD:1345686 D RGD:9068941 20211022 RGD mRNA:increased expression:head, neck (human) PMID:31452775|REF_RGD_ID:150520018 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:8805 intermediate coronary syndrome ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10660968 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:8858 tonsil cancer ISO RGD:1345686 D RGD:9068941 20211022 RGD mRNA:increased expression:head, neck (human) PMID:31452775|REF_RGD_ID:150520018 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:893 Wilson disease ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25002079 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1345686 D RGD:9068941 20201029 RGD PMID:29655167|REF_RGD_ID:39939058 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9000197 Edema ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9000217 Stomach Neoplasms ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15492468|PMID:15723263 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1345686 D RGD:9068941 20200609 RGD Chronic hepatitis B; protein:increased expression:liver, plasma (human) PMID:27974825|REF_RGD_ID:26884362 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1345686 D RGD:9068941 20200609 RGD associated with liver cirrhosis;protein:increased expression:plasma (human) PMID:29476704|REF_RGD_ID:26884367 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9000972 Fever ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11852909 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9001109 Anorexia susceptibility ISO RGD:1345686 D RGD:9068941 20211126 RGD DNA:SNP:promoter:g.-251A>T PMID:24076593|REF_RGD_ID:150523788 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1345686 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28864214 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9001414 Neurosyphilis treatment ISO RGD:1345686 D RGD:9068941 20201029 RGD PMID:27650493|REF_RGD_ID:39939071 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24894820 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9002211 Hyperalgesia ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10401557|PMID:7881729 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16606632|PMID:17606477 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9002371 Cardiotoxicity ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29959987 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9002512 Postherpetic Neuralgia ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11280320 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19401270|PMID:21742513 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9003688 Toxoplasma Chorioretinitis severity ISO RGD:1345686 D RGD:9068941 20201029 RGD protein:increased expression:serum (human) PMID:17488320|REF_RGD_ID:39939053 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9004009 Reperfusion Injury ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12865660 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1345686 D RGD:9068941 20211112 RGD PMID:21554996|REF_RGD_ID:150521553 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9004422 Chagas Cardiomyopathy disease_progression ISO RGD:1345686 D RGD:9068941 20211022 RGD DNA:SNP:promoter:g.-251A>T (rs4073) (human) PMID:22537745|REF_RGD_ID:39939013 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9004443 Intractable Pain ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11280320 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9004484 Sepsis exacerbates ISO RGD:1345686 D RGD:9068941 20211105 RGD protein:increased expression:blood plasma (human) PMID:31818332|REF_RGD_ID:40924635 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1345686 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32512068 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9004610 Acute Lung Injury disease_progression ISO RGD:1345686 D RGD:9068941 20210129 RGD associated with sepsis;protein:increased expression:blood serum (human) PMID:28506137|REF_RGD_ID:40925937 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9005099 Salmonella Infections, Animal ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29421334 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9005372 Inflammation ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20578705|PMID:24795235 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9005473 Bacterial Eye Infections ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23661603 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9005882 Spine Osteoarthritis ISO RGD:1345686 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34697729 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9006549 Enterovirus Infections severity ISO RGD:1345686 D RGD:9068941 20211105 RGD DNA:SNP:intron:g.+781C>T (human) PMID:24609754|REF_RGD_ID:150520201 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9006618 Liver Metastasis ISO RGD:1345686 D RGD:9068941 20200609 RGD associated with colorectal cancer; human colon adenocarcinoma cells in a mouse model PMID:29679563|REF_RGD_ID:26884358 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9006684 Inflammatory Breast Neoplasms ISO RGD:1345686 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32512068 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1345686 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32512068 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1345686 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9006939 Lyme Neuroborreliosis treatment ISO RGD:1345686 D RGD:9068941 20201029 RGD PMID:24239846|REF_RGD_ID:39939054 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9007346 Cachexia ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17878525 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:1617608 D RGD:9068941 20200702 RGD PMID:27175332|REF_RGD_ID:32733623 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22015448 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17380299 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9007874 Liver Failure disease_progression ISO RGD:1345686 D RGD:9068941 20200609 RGD associated with transient myeloproliferative syndrome and Down syndrome;protein:increased expression:serum (human) PMID:30314728|REF_RGD_ID:26884360 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9008 psoriatic arthritis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19732956 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9008114 Helicobacter Infections ISO RGD:1617608 D RGD:9068941 20200827 RGD associated with gastritis;mRNA:increased expression:stomach (mouse, Helicobacter felis) PMID:17242461|REF_RGD_ID:38549339 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:1617608 D RGD:9068941 20200828 RGD mRNA:altered expression:gastric antrum (mouse) PMID:29085807|REF_RGD_ID:38549349 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1345686 D RGD:9068941 20211105 RGD associated with liver disease;mRNA, protein:increased expression:liver, blood serum (human) PMID:23890815|REF_RGD_ID:150520196 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1345686 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:serum, peripheral blood mononuclear cell (human) PMID:26265888|REF_RGD_ID:11075958 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20065508 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9008559 Bacterial Lung Diseases severity ISO RGD:1345686 D RGD:9068941 20210129 RGD protein:increased expression:nasal mucus (human) PMID:24211414|REF_RGD_ID:40925940 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9008885 Staphylococcal Infections ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23661603 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9008939 Breast Neoplasms ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037|PMID:17516992 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20102417 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9146 visceral leishmaniasis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461696 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9146 visceral leishmaniasis susceptibility ISO RGD:1345686 D RGD:9068941 20211126 RGD DNA:SNP:promoter:g.-251A>T (human) PMID:25821028|REF_RGD_ID:150523789 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9146 visceral leishmaniasis treatment ISO RGD:1345686 D RGD:9068941 20211126 RGD PMID:32984951|REF_RGD_ID:150523791 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9206 Barrett's esophagus ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15387324 12086515 CXCL8 C-X-C motif chemokine ligand 8 gene DOID:9452 fatty liver disease ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23348005 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:0050553 JMP syndrome ISO RGD:1348865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:0060009 MHC class I deficiency ISO RGD:1348865 D RGD:7240710 20180130 OMIM 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:0060009 MHC class I deficiency ISO RGD:1348865 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY | ClinVar Annotator: match by term: MHC class I deficiency PMID:10560675|PMID:11529920|PMID:12067308|PMID:1570316|PMID:16199547|PMID:17576681|PMID:23662797|PMID:24033266|PMID:25741868|PMID:26122175|PMID:28492532|PMID:7517574|PMID:9536098 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:0060704 lymphoproliferative syndrome susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:nonsense mutation PMID:10560675|REF_RGD_ID:1601413 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:21796142|REF_RGD_ID:5147839 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:1025 tuberculoid leprosy susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:9062973|REF_RGD_ID:5147851 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:10316 pneumoconiosis ISO RGD:1348865 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNP: :(rs241448)(human) PMID:16595160|REF_RGD_ID:6482265 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:12206 dengue hemorrhagic fever susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:18071882|REF_RGD_ID:6482261 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:1577 limited scleroderma susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:16112028|REF_RGD_ID:1578361 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:1580 diffuse scleroderma susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:16112028|REF_RGD_ID:1578361 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:2377 multiple sclerosis ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNPs:CDs:p.V379I, A565T(human) PMID:7928442|REF_RGD_ID:6482280 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:2377 multiple sclerosis no_association ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNPs:CDs:p.V379I, A565T(human) PMID:7797617|REF_RGD_ID:6482281 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:synonymous mutation: : PMID:7759306|REF_RGD_ID:6482279 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:2893 cervix carcinoma susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNP: :(rs4148876)(human) PMID:17366619|REF_RGD_ID:6482264 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:9062973|REF_RGD_ID:5147851 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:3042 allergic contact dermatitis susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:9303338|REF_RGD_ID:6482276 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348865 D RGD:9068941 20200609 RGD protein:decreased expression:esophagus PMID:19492245|REF_RGD_ID:6482249 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:4362 cervical cancer ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:18248301|REF_RGD_ID:6482260 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:4362 cervical cancer susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:12648582|REF_RGD_ID:6482272 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:6196 reactive arthritis ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:7748224|REF_RGD_ID:6482278 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:630 genetic disease ISO RGD:1348865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:7147 ankylosing spondylitis ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:19480848|REF_RGD_ID:6482250 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:7148 rheumatoid arthritis ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:9645419|REF_RGD_ID:6482275 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:8893 psoriasis susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNPs:CDs:p.T665A, Q687Q(human) PMID:17581627|REF_RGD_ID:6482263 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:9007425 Diffuse Panbronchiolitis susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:polymorphisms:exon: PMID:10323341|REF_RGD_ID:5147847 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:9014588|REF_RGD_ID:6482277 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:12634240|REF_RGD_ID:6482273 12086523 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:9744 type 1 diabetes mellitus ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:1300236|PMID:17192492|REF_RGD_ID:2312368|REF_RGD_ID:2312373 12086565 NUDT22 nudix hydrolase 22 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1601846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12086565 NUDT22 nudix hydrolase 22 gene DOID:1059 intellectual disability ISO RGD:1601846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12086565 NUDT22 nudix hydrolase 22 gene DOID:3070 high grade glioma ISO RGD:1601846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12086565 NUDT22 nudix hydrolase 22 gene DOID:630 genetic disease ISO RGD:1601846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086575 TXNL4A thioredoxin like 4A gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1347193 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12086575 TXNL4A thioredoxin like 4A gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1347193 D RGD:7240710 20180130 OMIM 12086575 TXNL4A thioredoxin like 4A gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1347193 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:1342861|PMID:14564154|PMID:16523509|PMID:25434003|PMID:25741868|PMID:28492532|PMID:34713892 12086575 TXNL4A thioredoxin like 4A gene DOID:630 genetic disease ISO RGD:1347193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086575 TXNL4A thioredoxin like 4A gene DOID:6420 pulmonary valve stenosis ISO RGD:1347193 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12086575 TXNL4A thioredoxin like 4A gene DOID:8445 intestinal volvulus ISO RGD:1347193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12086575 TXNL4A thioredoxin like 4A gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1347193 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA | ClinVar Annotator: match by term: Oculootofacial dysplasia PMID:1342861|PMID:14564154|PMID:16523509|PMID:25434003|PMID:25741868|PMID:28492532|PMID:34713892 12086575 TXNL4A thioredoxin like 4A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12086575 TXNL4A thioredoxin like 4A gene DOID:9008419 Volvulus Of Midgut ISO RGD:1347193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12086593 EDEM1 ER degradation enhancing alpha-mannosidase like protein 1 gene DOID:0060478 Zika fever ISO RGD:1557813 D RGD:9068941 20200702 RGD mRNA:increased expression:brain PMID:30241539|REF_RGD_ID:32733625 12086593 EDEM1 ER degradation enhancing alpha-mannosidase like protein 1 gene DOID:630 genetic disease ISO RGD:1349759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086593 EDEM1 ER degradation enhancing alpha-mannosidase like protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12086593 EDEM1 ER degradation enhancing alpha-mannosidase like protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12086610 ISCU iron-sulfur cluster assembly enzyme gene DOID:10591 pre-eclampsia ISO RGD:1607067 D RGD:9068941 20221103 RGD mRNA:decreased expression:chorionic villus (human) PMID:22840297|REF_RGD_ID:155631283 12086610 ISCU iron-sulfur cluster assembly enzyme gene DOID:423 myopathy ISO RGD:1607067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:28492532 12086610 ISCU iron-sulfur cluster assembly enzyme gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:1607067 D RGD:9068941 20220930 RGD mRNA,protein:decreased expression:kidney (human) PMID:23449350|REF_RGD_ID:155260320 12086610 ISCU iron-sulfur cluster assembly enzyme gene DOID:630 genetic disease ISO RGD:1607067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12086610 ISCU iron-sulfur cluster assembly enzyme gene DOID:9006323 Myopathy with Lactic Acidosis, Hereditary ISO RGD:1607067 D RGD:7240710 20180130 OMIM 12086610 ISCU iron-sulfur cluster assembly enzyme gene DOID:9006323 Myopathy with Lactic Acidosis, Hereditary ISO RGD:1607067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy with lactic acidosis, hereditary PMID:18296749|PMID:18304497|PMID:19567699|PMID:19846308|PMID:20206689|PMID:21165651|PMID:22125086|PMID:25741868|PMID:28492532|PMID:30209894 12086625 PRPF18 pre-mRNA processing factor 18 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:731692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12086625 PRPF18 pre-mRNA processing factor 18 gene DOID:630 genetic disease ISO RGD:731692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086643 ANKRD44 ankyrin repeat domain 44 gene DOID:630 genetic disease ISO RGD:1605602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086643 ANKRD44 ankyrin repeat domain 44 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12086696 PCSK7 proprotein convertase subtilisin/kexin type 7 gene DOID:0060017 CD3epsilon deficiency ISO RGD:733505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12086696 PCSK7 proprotein convertase subtilisin/kexin type 7 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:733505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12086696 PCSK7 proprotein convertase subtilisin/kexin type 7 gene DOID:0080690 RASopathy ISO RGD:733505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12086696 PCSK7 proprotein convertase subtilisin/kexin type 7 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:733505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12086696 PCSK7 proprotein convertase subtilisin/kexin type 7 gene DOID:0111123 nephronophthisis 15 ISO RGD:733505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 12086696 PCSK7 proprotein convertase subtilisin/kexin type 7 gene DOID:0111971 immunodeficiency 18 ISO RGD:733505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12086696 PCSK7 proprotein convertase subtilisin/kexin type 7 gene DOID:0111972 immunodeficiency 19 ISO RGD:733505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12086696 PCSK7 proprotein convertase subtilisin/kexin type 7 gene DOID:0111973 immunodeficiency 17 ISO RGD:733505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12086696 PCSK7 proprotein convertase subtilisin/kexin type 7 gene DOID:1059 intellectual disability ISO RGD:733505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12086696 PCSK7 proprotein convertase subtilisin/kexin type 7 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12086696 PCSK7 proprotein convertase subtilisin/kexin type 7 gene DOID:6294 corpus callosum lipoma ISO RGD:733505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum lipoma PMID:25741868 12086696 PCSK7 proprotein convertase subtilisin/kexin type 7 gene DOID:630 genetic disease ISO RGD:733505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086696 PCSK7 proprotein convertase subtilisin/kexin type 7 gene DOID:9000629 Preauricular Tag, Isolated, Autosomal Dominant, 1 ISO RGD:733505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Preauricular skin tag PMID:25741868 12086696 PCSK7 proprotein convertase subtilisin/kexin type 7 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12086696 PCSK7 proprotein convertase subtilisin/kexin type 7 gene DOID:9007661 Dwarfism ISO RGD:733505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12086749 BANP BTG3 associated nuclear protein gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1316673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12086749 BANP BTG3 associated nuclear protein gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1316673 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12086749 BANP BTG3 associated nuclear protein gene DOID:3070 high grade glioma ISO RGD:1316673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12086749 BANP BTG3 associated nuclear protein gene DOID:630 genetic disease ISO RGD:1316673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086749 BANP BTG3 associated nuclear protein gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1316673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to PMID:24530203|PMID:26913920|PMID:28492532 12086749 BANP BTG3 associated nuclear protein gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1316673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12086777 SEPTIN3 septin 3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:736597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12086777 SEPTIN3 septin 3 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:736597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 12086777 SEPTIN3 septin 3 gene DOID:1059 intellectual disability ISO RGD:736597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12086777 SEPTIN3 septin 3 gene DOID:630 genetic disease ISO RGD:736597 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086803 SEC24A SEC24 homolog A, COPII coat complex component gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319800 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12086803 SEC24A SEC24 homolog A, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1319800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086803 SEC24A SEC24 homolog A, COPII coat complex component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12086803 SEC24A SEC24 homolog A, COPII coat complex component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12086803 SEC24A SEC24 homolog A, COPII coat complex component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319800 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12086830 PRRC2A proline rich coiled-coil 2A gene DOID:0050553 JMP syndrome ISO RGD:1350670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12086830 PRRC2A proline rich coiled-coil 2A gene DOID:11372 megacolon ISO RGD:1350670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12086830 PRRC2A proline rich coiled-coil 2A gene DOID:630 genetic disease ISO RGD:1350670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086830 PRRC2A proline rich coiled-coil 2A gene DOID:9004283 Transplant Rejection susceptibility ISO RGD:1350670 D RGD:9068941 20200609 RGD DNA:haplotype: :rs11538264(human) PMID:25111513|REF_RGD_ID:14390152 12086830 PRRC2A proline rich coiled-coil 2A gene DOID:9744 type 1 diabetes mellitus ISO RGD:1350670 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15842729|REF_RGD_ID:2306963 12086830 PRRC2A proline rich coiled-coil 2A gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:1350670 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:10987645|REF_RGD_ID:2306964 12086867 SLC22A7 solute carrier family 22 member 7 gene DOID:0050444 infantile Refsum disease ISO RGD:732686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12086867 SLC22A7 solute carrier family 22 member 7 gene DOID:630 genetic disease ISO RGD:732686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086867 SLC22A7 solute carrier family 22 member 7 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732686 D RGD:9068941 20220616 RGD DNA:SNP:cds:rs2270860|rs4149178 (human) PMID:28347776|REF_RGD_ID:152995291 12086867 SLC22A7 solute carrier family 22 member 7 gene DOID:905 Zellweger syndrome ISO RGD:732686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12086880 LY6H lymphocyte antigen 6 family member H gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1323593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 12086880 LY6H lymphocyte antigen 6 family member H gene DOID:4621 holoprosencephaly ISO RGD:1323593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12086880 LY6H lymphocyte antigen 6 family member H gene DOID:630 genetic disease ISO RGD:1323593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086888 ZNF672 zinc finger protein 672 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1602674 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12086888 ZNF672 zinc finger protein 672 gene DOID:630 genetic disease ISO RGD:1602674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086914 MYO1F myosin IF gene DOID:0080490 mucolipidosis type IV ISO RGD:1320254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 12086914 MYO1F myosin IF gene DOID:10003 sensorineural hearing loss ISO RGD:1320254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment 12086914 MYO1F myosin IF gene DOID:12849 autistic disorder ISO RGD:1320254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12086914 MYO1F myosin IF gene DOID:630 genetic disease ISO RGD:1320254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086914 MYO1F myosin IF gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12086945 TWNK twinkle mtDNA helicase gene DOID:0050823 third-degree atrioventricular block ISO RGD:1317337 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Third degree atrioventricular block 12086945 TWNK twinkle mtDNA helicase gene DOID:0050857 Perrault syndrome ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:25355836|PMID:25741868|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27650058|PMID:28178980|PMID:28492532|PMID:29458409|PMID:30799093|PMID:31055809|PMID:31852434|PMID:32281099|PMID:32619254|PMID:33095980 12086945 TWNK twinkle mtDNA helicase gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:17614277|PMID:20479361|PMID:20659899|PMID:21689831|PMID:24018892|PMID:25355836|PMID:25741868|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27551684|PMID:28178980|PMID:28454995|PMID:28492532|PMID:29458409|PMID:30799093|PMID:31852434|PMID:32619254|PMID:33095980 12086945 TWNK twinkle mtDNA helicase gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1317337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:25741868|PMID:28492532 12086945 TWNK twinkle mtDNA helicase gene DOID:0080126 mitochondrial DNA depletion syndrome 7 ISO RGD:1317337 D RGD:7240710 20180130 OMIM 12086945 TWNK twinkle mtDNA helicase gene DOID:0080126 mitochondrial DNA depletion syndrome 7 ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia | ClinVar Annotator: match by term: mitochondrial hepatopathy PMID:11431692|PMID:12707443|PMID:12872260|PMID:16135556|PMID:17614277|PMID:17722119|PMID:17921179|PMID:18575922|PMID:18973250|PMID:19084593|PMID:20479361|PMID:20659899|PMID:21689831|PMID:22353293|PMID:22928142|PMID:24018892|PMID:24086434|PMID:25355836|PMID:25741868|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27551684|PMID:27650058|PMID:28178980|PMID:28454995|PMID:28492532|PMID:28776642|PMID:28812649|PMID:29458409|PMID:30496414|PMID:30799093|PMID:31055809|PMID:31852434|PMID:32619254|PMID:33095980 12086945 TWNK twinkle mtDNA helicase gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1317337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:15668446|PMID:17614277|PMID:20479361|PMID:20659899|PMID:21689831|PMID:24018892|PMID:25355836|PMID:25741868|PMID:26206283|PMID:26467025|PMID:27551684|PMID:28492532|PMID:29458409 12086945 TWNK twinkle mtDNA helicase gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:15668446|PMID:17614277|PMID:20301746|PMID:20479361|PMID:20659899|PMID:21689831|PMID:24018892|PMID:25355836|PMID:25741868|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27551684|PMID:28178980|PMID:28454995|PMID:28492532|PMID:29458409|PMID:30799093|PMID:31852434|PMID:32619254|PMID:33095980 12086945 TWNK twinkle mtDNA helicase gene DOID:0111520 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 ISO RGD:1317337 D RGD:7240710 20180130 OMIM 12086945 TWNK twinkle mtDNA helicase gene DOID:0111520 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 PMID:10522883|PMID:11431692|PMID:12163192|PMID:12707443|PMID:12872260|PMID:15668446|PMID:1634620|PMID:17614277|PMID:18575922|PMID:18973250|PMID:19084593|PMID:19353676|PMID:19428252|PMID:19513767|PMID:20301746|PMID:20479361|PMID:20659899|PMID:21689831|PMID:24014582|PMID:24018892|PMID:24076137|PMID:24086434|PMID:25133958|PMID:25355836|PMID:25741868|PMID:25989649|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27551684|PMID:28178980|PMID:28454995|PMID:28492532|PMID:28812649|PMID:29458409|PMID:30496414|PMID:30799093|PMID:31271879|PMID:31852434|PMID:32619254|PMID:33095980|PMID:34409151 12086945 TWNK twinkle mtDNA helicase gene DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 PMID:11431692|PMID:18575922|PMID:18971204|PMID:20659899|PMID:25741868|PMID:28492532 12086945 TWNK twinkle mtDNA helicase gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions PMID:11431692|PMID:16639411|PMID:17272269|PMID:17620490|PMID:18279890|PMID:18971204|PMID:19513767|PMID:20479361|PMID:20659899|PMID:20880070|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28812649|PMID:32161153 12086945 TWNK twinkle mtDNA helicase gene DOID:12558 chronic progressive external ophthalmoplegia susceptibility ISO RGD:1317337 D RGD:9068941 20200609 RGD DNA:mutations PMID:11431692|REF_RGD_ID:1600544 12086945 TWNK twinkle mtDNA helicase gene DOID:14330 Parkinson's disease ISO RGD:1317338 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 12086945 TWNK twinkle mtDNA helicase gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:21689831|PMID:25741868|PMID:26467025|PMID:28492532 12086945 TWNK twinkle mtDNA helicase gene DOID:700 mitochondrial metabolism disease ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:11431692|PMID:12707443|PMID:12872260|PMID:16639411|PMID:17272269|PMID:17620490|PMID:18279890|PMID:18575922|PMID:18971204|PMID:18973250|PMID:19084593|PMID:19513767|PMID:20479361|PMID:20659899|PMID:20880070|PMID:24076137|PMID:24086434|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28812649|PMID:30496414|PMID:32161153 12086945 TWNK twinkle mtDNA helicase gene DOID:9000124 Perrault Syndrome 5 ISO RGD:1317337 D RGD:7240710 20180130 OMIM 12086945 TWNK twinkle mtDNA helicase gene DOID:9000124 Perrault Syndrome 5 ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome 5 PMID:25355836|PMID:25741868|PMID:28492532|PMID:29302074|PMID:31823625|PMID:32281099|PMID:32619254|PMID:33095980 12086945 TWNK twinkle mtDNA helicase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307884 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:retina,mitochondrion: PMID:22743328|REF_RGD_ID:8694093 12086945 TWNK twinkle mtDNA helicase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1317338 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:retina,mitochondrion: PMID:22229649|REF_RGD_ID:8694187 12086945 TWNK twinkle mtDNA helicase gene DOID:9005815 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic PMID:12707443|PMID:12872260|PMID:18575922|PMID:18973250|PMID:19084593|PMID:20659899|PMID:24086434|PMID:25741868|PMID:28492532|PMID:28812649|PMID:30496414 12086958 EIF3A eukaryotic translation initiation factor 3 subunit A gene DOID:630 genetic disease ISO RGD:1316362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086958 EIF3A eukaryotic translation initiation factor 3 subunit A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316362 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12086987 TRIM62 tripartite motif containing 62 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1346151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12086987 TRIM62 tripartite motif containing 62 gene DOID:630 genetic disease ISO RGD:1346151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086995 ATP8B4 ATPase phospholipid transporting 8B4 (putative) gene DOID:2717 Bloom syndrome ISO RGD:1315485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12086995 ATP8B4 ATPase phospholipid transporting 8B4 (putative) gene DOID:630 genetic disease ISO RGD:1315485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12086995 ATP8B4 ATPase phospholipid transporting 8B4 (putative) gene DOID:9256 colorectal cancer ISO RGD:1315485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12087036 ATOH1 atonal bHLH transcription factor 1 gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:1349240 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Dominant progressive sensorineural hearing loss PMID:25741868|PMID:33111345 12087036 ATOH1 atonal bHLH transcription factor 1 gene DOID:0050902 medulloblastoma ISO RGD:1349240 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18347096 12087036 ATOH1 atonal bHLH transcription factor 1 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1349240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:25741868 12087036 ATOH1 atonal bHLH transcription factor 1 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1349240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:25741868 12087036 ATOH1 atonal bHLH transcription factor 1 gene DOID:630 genetic disease ISO RGD:1349240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087036 ATOH1 atonal bHLH transcription factor 1 gene DOID:9003948 Autosomal Dominant Nonsyndromic Deafness 89 ISO RGD:1349240 D RGD:7240710 20230505 OMIM 12087036 ATOH1 atonal bHLH transcription factor 1 gene DOID:9003948 Autosomal Dominant Nonsyndromic Deafness 89 ISO RGD:1349240 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 89 PMID:25741868|PMID:33111345 12087036 ATOH1 atonal bHLH transcription factor 1 gene DOID:9004538 Hearing Loss ISO RGD:1349240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing loss PMID:25741868 12087036 ATOH1 atonal bHLH transcription factor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1349240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12087041 ROBO4 roundabout guidance receptor 4 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1345935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve PMID:25741868|PMID:30455415 12087041 ROBO4 roundabout guidance receptor 4 gene DOID:0080977 aortic valve disease 3 ISO RGD:1345935 D RGD:7240710 20190731 OMIM 12087041 ROBO4 roundabout guidance receptor 4 gene DOID:0080977 aortic valve disease 3 ISO RGD:1345935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic valve disease 3 PMID:25741868|PMID:30455415 12087041 ROBO4 roundabout guidance receptor 4 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1345935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12087041 ROBO4 roundabout guidance receptor 4 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1345935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12087041 ROBO4 roundabout guidance receptor 4 gene DOID:10591 pre-eclampsia ISO RGD:1345935 D RGD:9068941 20230330 RGD mRNA,protein:increased expression:placenta PMID:22262697|REF_RGD_ID:243048428 12087041 ROBO4 roundabout guidance receptor 4 gene DOID:12849 autistic disorder ISO RGD:1345935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18270976 12087041 ROBO4 roundabout guidance receptor 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1345935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 12087041 ROBO4 roundabout guidance receptor 4 gene DOID:224 transient cerebral ischemia ISO RGD:6494870 D RGD:9068941 20230330 RGD protein:increased expression:hippocampus PMID:26764532|REF_RGD_ID:11573340 12087041 ROBO4 roundabout guidance receptor 4 gene DOID:3627 aortic aneurysm ISO RGD:1345935 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ascending aortic dilation PMID:25741868|PMID:30455415 12087041 ROBO4 roundabout guidance receptor 4 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1345935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia 12087041 ROBO4 roundabout guidance receptor 4 gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:1345935 D RGD:9068941 20220310 RGD PMID:32626543|REF_RGD_ID:151665104 12087041 ROBO4 roundabout guidance receptor 4 gene DOID:5419 schizophrenia ISO RGD:1345935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12087041 ROBO4 roundabout guidance receptor 4 gene DOID:630 genetic disease ISO RGD:1345935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30455415 12087041 ROBO4 roundabout guidance receptor 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12087041 ROBO4 roundabout guidance receptor 4 gene DOID:9007661 Dwarfism ISO RGD:1345935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12087068 PLD6 phospholipase D family member 6 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1602058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome | ClinVar Annotator: match by term: Hornstein-Knickenberg syndrome PMID:15852235|PMID:20188345|PMID:28492532 12087068 PLD6 phospholipase D family member 6 gene DOID:0050777 Joubert syndrome ISO RGD:1602058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12087068 PLD6 phospholipase D family member 6 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1602058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12087068 PLD6 phospholipase D family member 6 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1602058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12087068 PLD6 phospholipase D family member 6 gene DOID:12849 autistic disorder ISO RGD:1602058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12087068 PLD6 phospholipase D family member 6 gene DOID:630 genetic disease ISO RGD:1602058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087074 KLHL17 kelch like family member 17 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1348319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12087074 KLHL17 kelch like family member 17 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1348319 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12087074 KLHL17 kelch like family member 17 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1348319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12087074 KLHL17 kelch like family member 17 gene DOID:0111934 immunodeficiency 38 ISO RGD:1348319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12087074 KLHL17 kelch like family member 17 gene DOID:0111935 immunodeficiency 16 ISO RGD:1348319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12087074 KLHL17 kelch like family member 17 gene DOID:630 genetic disease ISO RGD:1348319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087074 KLHL17 kelch like family member 17 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12087074 KLHL17 kelch like family member 17 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1348319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12087074 KLHL17 kelch like family member 17 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1348319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 12087100 TXNDC11 thioredoxin domain containing 11 gene DOID:5419 schizophrenia ISO RGD:1348266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12087100 TXNDC11 thioredoxin domain containing 11 gene DOID:630 genetic disease ISO RGD:1348266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087127 RC3H2 ring finger and CCCH-type domains 2 gene DOID:630 genetic disease ISO RGD:1312502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087163 SLC25A53 solute carrier family 25 member 53 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12087163 SLC25A53 solute carrier family 25 member 53 gene DOID:12849 autistic disorder ISO RGD:1603463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12087163 SLC25A53 solute carrier family 25 member 53 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1603463 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:1720927|PMID:9633722|PMID:9634530 12087163 SLC25A53 solute carrier family 25 member 53 gene DOID:630 genetic disease ISO RGD:1603463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087169 GJD4 gap junction protein delta 4 gene DOID:630 genetic disease ISO RGD:1603351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087180 TIMM9 translocase of inner mitochondrial membrane 9 gene DOID:0110992 Joubert syndrome 23 ISO RGD:1352655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 23 PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532 12087204 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23252400|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31584066|PMID:9536098 12087204 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603708 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23252400|PMID:25640679|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31584066|PMID:9536098 12087204 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0080414 developmental and epileptic encephalopathy 15 ISO RGD:1603708 D RGD:7240710 20180130 OMIM 12087204 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0080414 developmental and epileptic encephalopathy 15 ISO RGD:1603708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 15 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 15 | ClinVar Annotator: match by term: Epilepsy due to perinatal stroke PMID:16199547|PMID:18414213|PMID:23252400|PMID:25741868|PMID:28492532|PMID:30089820|PMID:31584066 12087204 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1603708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 12087204 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0081180 autosomal recessive intellectual developmental disorder 12 ISO RGD:1603708 D RGD:7240710 20180130 OMIM 12087204 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0081180 autosomal recessive intellectual developmental disorder 12 ISO RGD:1603708 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 12 PMID:17120046|PMID:18414213|PMID:21907012|PMID:25741868|PMID:28492532|PMID:31584066|PMID:32666583 12087204 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12087204 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603708 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23252400|PMID:25640679|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31584066|PMID:9536098 12087204 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:1059 intellectual disability ISO RGD:1603708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:28492532|PMID:32666583 12087204 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:2383 neonatal jaundice ISO RGD:1603708 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neonatal jaundice PMID:25741868|PMID:32666583 12087204 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:630 genetic disease ISO RGD:1603708 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31584066 12087204 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1603708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized myoclonic seizures PMID:25741868|PMID:28492532 12087204 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:9007114 Mobility Limitation ISO RGD:1603708 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:25741868|PMID:32666583 12087226 NME4 NME/NM23 nucleoside diphosphate kinase 4 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1318408 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12087226 NME4 NME/NM23 nucleoside diphosphate kinase 4 gene DOID:1826 epilepsy ISO RGD:1318408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 12087226 NME4 NME/NM23 nucleoside diphosphate kinase 4 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12087226 NME4 NME/NM23 nucleoside diphosphate kinase 4 gene DOID:630 genetic disease ISO RGD:1318408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087235 BRMS1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1322310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 12087235 BRMS1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1322310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 12087235 BRMS1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:1059 intellectual disability ISO RGD:1322310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12087235 BRMS1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1322310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12087235 BRMS1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:2746 glycogen storage disease V ISO RGD:1322310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12087235 BRMS1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1322310 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain metastases:10-fold lower expression in metastases vs primary tumors PMID:15592684|REF_RGD_ID:2289400 12087235 BRMS1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:630 genetic disease ISO RGD:1322310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087235 BRMS1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:9000965 Neoplasm Metastasis ISO RGD:1322310 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27501413 12087235 BRMS1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1322310 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12087235 BRMS1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1322310 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27501413 12087235 BRMS1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1322310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12087256 LRRC71 leucine rich repeat containing 71 gene DOID:1540 parathyroid carcinoma ISO RGD:1601719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12087256 LRRC71 leucine rich repeat containing 71 gene DOID:630 genetic disease ISO RGD:1601719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087256 LRRC71 leucine rich repeat containing 71 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12087283 LOC100682600 disintegrin and metalloproteinase domain-containing protein 30 gene DOID:0050722 PHGDH deficiency ISO RGD:1314448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:28492532 12087283 LOC100682600 disintegrin and metalloproteinase domain-containing protein 30 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1314448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 12087283 LOC100682600 disintegrin and metalloproteinase domain-containing protein 30 gene DOID:630 genetic disease ISO RGD:1314448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087288 OR5P6 olfactory receptor family 5 subfamily P member 6 gene DOID:630 genetic disease ISO RGD:1344577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087292 TMEM273 transmembrane protein 273 gene DOID:11372 megacolon ISO RGD:1344407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12087292 TMEM273 transmembrane protein 273 gene DOID:5419 schizophrenia ISO RGD:1344407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12087308 TSPAN16 tetraspanin 16 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1349307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12087308 TSPAN16 tetraspanin 16 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1349307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12087308 TSPAN16 tetraspanin 16 gene DOID:0111254 glutaric acidemia I ISO RGD:1349307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12087308 TSPAN16 tetraspanin 16 gene DOID:3413 alpha-mannosidosis ISO RGD:1349307 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12087308 TSPAN16 tetraspanin 16 gene DOID:630 genetic disease ISO RGD:1349307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087371 ACOT7 acyl-CoA thioesterase 7 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:733878 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12087371 ACOT7 acyl-CoA thioesterase 7 gene DOID:630 genetic disease ISO RGD:733878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087371 ACOT7 acyl-CoA thioesterase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12087387 CADM4 cell adhesion molecule 4 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1312331 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12087387 CADM4 cell adhesion molecule 4 gene DOID:5419 schizophrenia ISO RGD:1312331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12087387 CADM4 cell adhesion molecule 4 gene DOID:630 genetic disease ISO RGD:1312331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087399 DHCR24 24-dehydrocholesterol reductase gene DOID:0060041 autism spectrum disorder ISO RGD:1315197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 12087399 DHCR24 24-dehydrocholesterol reductase gene DOID:0080600 COVID-19 ISO RGD:1315197 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12087399 DHCR24 24-dehydrocholesterol reductase gene DOID:10652 Alzheimer's disease ISO RGD:1315197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23042211 12087399 DHCR24 24-dehydrocholesterol reductase gene DOID:11100 Q fever ISO RGD:1315197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16469060 12087399 DHCR24 24-dehydrocholesterol reductase gene DOID:3146 lipid metabolism disorder ISO RGD:1315197 D RGD:9068941 20200609 RGD desmosterolosis, OMIM:602398, Y471S, N294T, K306N PMID:11519011|REF_RGD_ID:1600897 12087399 DHCR24 24-dehydrocholesterol reductase gene DOID:5419 schizophrenia ISO RGD:1315197 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12087399 DHCR24 24-dehydrocholesterol reductase gene DOID:630 genetic disease ISO RGD:1315197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654 12087399 DHCR24 24-dehydrocholesterol reductase gene DOID:9004193 Desmosterolosis ISO RGD:1315197 D RGD:7240710 20180130 OMIM 12087399 DHCR24 24-dehydrocholesterol reductase gene DOID:9004193 Desmosterolosis ISO RGD:1315197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Desmosterolosis PMID:11519011|PMID:21559050|PMID:21671375|PMID:21902244|PMID:25326635|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654 12087399 DHCR24 24-dehydrocholesterol reductase gene DOID:9008386 Hydrops Fetalis ISO RGD:1315197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 12087412 CIDEA cell death inducing DFFA like effector a gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1312942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12087412 CIDEA cell death inducing DFFA like effector a gene DOID:1059 intellectual disability ISO RGD:1312942 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12087412 CIDEA cell death inducing DFFA like effector a gene DOID:543 dystonia ISO RGD:1312942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 12087412 CIDEA cell death inducing DFFA like effector a gene DOID:6000 congestive heart failure ISO RGD:1312942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 12087412 CIDEA cell death inducing DFFA like effector a gene DOID:630 genetic disease ISO RGD:1312942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087412 CIDEA cell death inducing DFFA like effector a gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12087412 CIDEA cell death inducing DFFA like effector a gene DOID:9007188 Liver Neoplasms ISO RGD:1312942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030|PMID:28108177 12087412 CIDEA cell death inducing DFFA like effector a gene DOID:9970 obesity ISO RGD:1312942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20975297 12087412 CIDEA cell death inducing DFFA like effector a gene DOID:9970 obesity ISO RGD:1312942 D RGD:9068941 20200609 RGD protein:amino acid substitution:V115F PMID:16186410|REF_RGD_ID:1625390 12087421 PROCA1 protein interacting with cyclin A1 gene DOID:630 genetic disease ISO RGD:1603267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087439 SRPK3 SRSF protein kinase 3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349288 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12087439 SRPK3 SRSF protein kinase 3 gene DOID:0050476 Barth syndrome ISO RGD:1349288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12087439 SRPK3 SRSF protein kinase 3 gene DOID:0050800 creatine transporter deficiency ISO RGD:1349288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 12087439 SRPK3 SRSF protein kinase 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12087439 SRPK3 SRSF protein kinase 3 gene DOID:0080574 congenital disorder of glycosylation Iy ISO RGD:1349288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y 12087439 SRPK3 SRSF protein kinase 3 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349288 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 12087439 SRPK3 SRSF protein kinase 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1349288 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12087439 SRPK3 SRSF protein kinase 3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1349288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12087439 SRPK3 SRSF protein kinase 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12087439 SRPK3 SRSF protein kinase 3 gene DOID:12849 autistic disorder ISO RGD:1349288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12087439 SRPK3 SRSF protein kinase 3 gene DOID:13628 favism ISO RGD:1349288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12087439 SRPK3 SRSF protein kinase 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1349288 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12087439 SRPK3 SRSF protein kinase 3 gene DOID:607 paraplegia ISO RGD:1349288 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12087439 SRPK3 SRSF protein kinase 3 gene DOID:630 genetic disease ISO RGD:1349288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087439 SRPK3 SRSF protein kinase 3 gene DOID:9002720 Splenomegaly ISO RGD:1349288 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12087461 TPD52L1 TPD52 like 1 gene DOID:630 genetic disease ISO RGD:1320807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087461 TPD52L1 TPD52 like 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12087481 GMPPB GDP-mannose pyrophosphorylase B gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1607035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12087481 GMPPB GDP-mannose pyrophosphorylase B gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1607035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12087481 GMPPB GDP-mannose pyrophosphorylase B gene DOID:0110294 autosomal recessive limb-girdle muscular dystrophy type 2T ISO RGD:1607035 D RGD:7240710 20180130 OMIM 12087481 GMPPB GDP-mannose pyrophosphorylase B gene DOID:0110294 autosomal recessive limb-girdle muscular dystrophy type 2T ISO RGD:1607035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2T | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C14 PMID:19901254|PMID:23768512|PMID:23894383|PMID:24033266|PMID:24780531|PMID:25326637|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:27147698|PMID:27527004|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28456886|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28877744|PMID:28914264|PMID:29437916|PMID:30060766|PMID:30069288|PMID:30257713|PMID:30684953|PMID:31980526|PMID:32115343|PMID:32403337|PMID:32404165|PMID:34008892|PMID:34106991|PMID:35006422 12087481 GMPPB GDP-mannose pyrophosphorylase B gene DOID:0111233 congenital muscular dystrophy-dystroglycanopathy A14 ISO RGD:1607035 D RGD:7240710 20180130 OMIM 12087481 GMPPB GDP-mannose pyrophosphorylase B gene DOID:0111233 congenital muscular dystrophy-dystroglycanopathy A14 ISO RGD:1607035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 PMID:16199547|PMID:17576681|PMID:19901254|PMID:23768512|PMID:23894383|PMID:24033266|PMID:24780531|PMID:25326637|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:26467025|PMID:27147698|PMID:27527004|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28456886|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28877744|PMID:28914264|PMID:29437916|PMID:30060766|PMID:30069288|PMID:30257713|PMID:30684953|PMID:31211170|PMID:31980526|PMID:32056211|PMID:32115343|PMID:32403337|PMID:32404165|PMID:33756069|PMID:34008892|PMID:34106991|PMID:35006422|PMID:9536098 12087481 GMPPB GDP-mannose pyrophosphorylase B gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1607035 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:25741868 12087481 GMPPB GDP-mannose pyrophosphorylase B gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1607035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12087481 GMPPB GDP-mannose pyrophosphorylase B gene DOID:0112374 muscular dystrophy-dystroglycanopathy ISO RGD:1607035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy PMID:23768512|PMID:25326637|PMID:25741868|PMID:26310427|PMID:27766311|PMID:28492532|PMID:29437916|PMID:30257713|PMID:30684953|PMID:32403337|PMID:32404165 12087481 GMPPB GDP-mannose pyrophosphorylase B gene DOID:0112377 muscular dystrophy-dystroglycanopathy type B14 ISO RGD:1607035 D RGD:7240710 20180130 OMIM 12087481 GMPPB GDP-mannose pyrophosphorylase B gene DOID:0112377 muscular dystrophy-dystroglycanopathy type B14 ISO RGD:1607035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 PMID:19901254|PMID:23768512|PMID:23894383|PMID:24033266|PMID:24780531|PMID:25326637|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:27147698|PMID:27766311|PMID:27874200|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28877744|PMID:29437916|PMID:30257713|PMID:30684953|PMID:31980526|PMID:32115343|PMID:32403337|PMID:32404165|PMID:34008892|PMID:34106991|PMID:35006422 12087481 GMPPB GDP-mannose pyrophosphorylase B gene DOID:630 genetic disease ISO RGD:1607035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23768512|PMID:23894383|PMID:24033266|PMID:24780531|PMID:25326637|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:26467025|PMID:27147698|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28877744|PMID:29437916|PMID:30257713|PMID:30684953|PMID:31211170|PMID:31980526|PMID:32115343|PMID:32403337|PMID:32404165|PMID:34008892|PMID:34106991|PMID:35006422|PMID:9536098 12087481 GMPPB GDP-mannose pyrophosphorylase B gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1607035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12087481 GMPPB GDP-mannose pyrophosphorylase B gene DOID:9008086 Developmental Disabilities ISO RGD:1607035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12087481 GMPPB GDP-mannose pyrophosphorylase B gene DOID:9884 muscular dystrophy ISO RGD:1607035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:23768512|PMID:24033266|PMID:24780531|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:27147698|PMID:27527004|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28456886|PMID:28478914|PMID:28492532|PMID:29437916|PMID:30060766|PMID:30069288|PMID:30257713|PMID:30684953|PMID:32115343|PMID:34106991|PMID:35006422 12087506 MAGEB10 melanoma antigen family B, 10 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12087506 MAGEB10 melanoma antigen family B, 10 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1606155 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:22510846|PMID:23453023|PMID:24504883|PMID:28492532 12087506 MAGEB10 melanoma antigen family B, 10 gene DOID:12849 autistic disorder ISO RGD:1606155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12087506 MAGEB10 melanoma antigen family B, 10 gene DOID:630 genetic disease ISO RGD:1606155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087506 MAGEB10 melanoma antigen family B, 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12087512 OPN1LW opsin 1, medium wave sensitive gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1346667 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12087512 OPN1LW opsin 1, medium wave sensitive gene DOID:0050476 Barth syndrome ISO RGD:1346667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12087512 OPN1LW opsin 1, medium wave sensitive gene DOID:0050679 blue cone monochromacy ISO RGD:1346667 D RGD:7240710 20180130 OMIM 12087512 OPN1LW opsin 1, medium wave sensitive gene DOID:0050679 blue cone monochromacy ISO RGD:1346667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blue cone monochromacy | ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type PMID:15094734|PMID:1881435|PMID:25741868|PMID:8666378|PMID:8792812 12087512 OPN1LW opsin 1, medium wave sensitive gene DOID:0050800 creatine transporter deficiency ISO RGD:1346667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 12087512 OPN1LW opsin 1, medium wave sensitive gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 12087512 OPN1LW opsin 1, medium wave sensitive gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1346667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 12087512 OPN1LW opsin 1, medium wave sensitive gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1346667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 12087512 OPN1LW opsin 1, medium wave sensitive gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1346667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 12087512 OPN1LW opsin 1, medium wave sensitive gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1346667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 12087512 OPN1LW opsin 1, medium wave sensitive gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1346667 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 12087512 OPN1LW opsin 1, medium wave sensitive gene DOID:0112003 immunodeficiency 33 ISO RGD:1346667 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12087512 OPN1LW opsin 1, medium wave sensitive gene DOID:10588 adrenoleukodystrophy ISO RGD:1346667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12087512 OPN1LW opsin 1, medium wave sensitive gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1346667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12087512 OPN1LW opsin 1, medium wave sensitive gene DOID:12849 autistic disorder ISO RGD:1346667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12087512 OPN1LW opsin 1, medium wave sensitive gene DOID:13628 favism ISO RGD:1346667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12087512 OPN1LW opsin 1, medium wave sensitive gene DOID:13910 red color blindness ISO RGD:1346667 D RGD:7240710 20180130 OMIM 12087512 OPN1LW opsin 1, medium wave sensitive gene DOID:13910 red color blindness ISO RGD:1346667 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Protan defect PMID:12051694|PMID:15094734|PMID:25741868|PMID:8666378 12087512 OPN1LW opsin 1, medium wave sensitive gene DOID:2729 dyskeratosis congenita ISO RGD:1346667 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12087512 OPN1LW opsin 1, medium wave sensitive gene DOID:607 paraplegia ISO RGD:1346667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12087512 OPN1LW opsin 1, medium wave sensitive gene DOID:630 genetic disease ISO RGD:1346667 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087512 OPN1LW opsin 1, medium wave sensitive gene DOID:9002720 Splenomegaly ISO RGD:1346667 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12087512 OPN1LW opsin 1, medium wave sensitive gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1346667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 12087512 OPN1LW opsin 1, medium wave sensitive gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1346667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:0050606 acrokeratosis verruciformis ISO RGD:731733 D RGD:7240710 20180808 OMIM 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:0050606 acrokeratosis verruciformis ISO RGD:731733 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Acrokeratosis verruciformis of Hopf PMID:12542527|PMID:20518781|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:10825 essential hypertension susceptibility ISO RGD:731733 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.A724A (c.2171G>A)(human) PMID:20687374|REF_RGD_ID:13507310 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:114 heart disease ISO RGD:2174 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X PMID:23458196|REF_RGD_ID:7327178 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:114 heart disease ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19328205 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:14221 abdominal obesity-metabolic syndrome 1 ISO RGD:2174 D RGD:9068941 20200609 RGD protein:increased oxidation:cardiac muscle cell PMID:23997093|REF_RGD_ID:13782087 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:1459 hypothyroidism ISO RGD:2174 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle PMID:21217071|REF_RGD_ID:6904140 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:1824 status epilepticus ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15288437 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:2734 keratosis follicularis ISO RGD:731733 D RGD:7240710 20180130 OMIM 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:2734 keratosis follicularis ISO RGD:731733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Keratosis follicularis PMID:10080178|PMID:10441323|PMID:10441324|PMID:10441325|PMID:11168576|PMID:11244492|PMID:12072062|PMID:19216760|PMID:20423818|PMID:21519848|PMID:23356892|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30345710 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:2856 euthyroid sick syndrome treatment ISO RGD:2174 D RGD:9068941 20200609 RGD associated with congestive heart failure PMID:27737323|REF_RGD_ID:13782084 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:6000 congestive heart failure ISO RGD:2174 D RGD:9068941 20200609 RGD PMID:21691940|REF_RGD_ID:6903963 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:6000 congestive heart failure ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19776660 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:630 genetic disease ISO RGD:731733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:6432 pulmonary hypertension ISO RGD:2174 D RGD:9068941 20200609 RGD PMID:27144451|REF_RGD_ID:13782086 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:6432 pulmonary hypertension treatment ISO RGD:731733 D RGD:9068941 20200609 RGD PMID:23804254|REF_RGD_ID:13782089 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2174 D RGD:9068941 20200609 RGD protein:decreased expression:tail, skeletal muscle PMID:21930674|REF_RGD_ID:13782071 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9001636 Darier Disease, Segmental ISO RGD:731733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Darier disease, segmental PMID:11121153 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21217071 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9001956 Darier Disease, Acral Hemorrhagic Type ISO RGD:731733 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Darier disease, acral hemorrhagic type PMID:10441324|PMID:25741868 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9002514 Neointima treatment ISO RGD:731733 D RGD:9068941 20200609 RGD PMID:23535897|REF_RGD_ID:13782090 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9003936 Cardiomegaly ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11679415 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9003936 Cardiomegaly treatment ISO RGD:2174 D RGD:9068941 20200609 RGD PMID:29792884|REF_RGD_ID:13782078 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9005141 Ventricular Tachycardia susceptibility ISO RGD:731733 D RGD:9068941 20200609 RGD associated with heart failure;DNA:SNP: :rs186056(human) PMID:24048583|REF_RGD_ID:13507307 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2174 D RGD:9068941 20200609 RGD PMID:20122173|PMID:28483572|REF_RGD_ID:12910731|REF_RGD_ID:13782130 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2174 D RGD:9068941 20200609 RGD protein:increased carbonylation:heart PMID:21300842|REF_RGD_ID:6904139 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9005725 Iron Overload ISO RGD:2174 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:27222135|REF_RGD_ID:13782085 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:2174 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21441944|REF_RGD_ID:6771209 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16685413 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9007346 Cachexia ISO RGD:2174 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma PMID:23200745|REF_RGD_ID:13782066 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:2174 D RGD:9068941 20200609 RGD PMID:18416460|REF_RGD_ID:13782074 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10734148 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2174 D RGD:9068941 20200609 RGD PMID:28637456|REF_RGD_ID:13782080 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2174 D RGD:9068941 20200609 RGD PMID:22009485|PMID:27222135|REF_RGD_ID:13782085|REF_RGD_ID:6771327 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2174 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle PMID:21216827|REF_RGD_ID:6892953 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12087520 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9767 myocardial stunning ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16317512 12087549 RPF2 ribosome production factor 2 homolog gene DOID:630 genetic disease ISO RGD:1315787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087570 EPPK1 epiplakin 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1343625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12087570 EPPK1 epiplakin 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1343625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12087570 EPPK1 epiplakin 1 gene DOID:2661 myoepithelioma ISO RGD:1343625 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12087570 EPPK1 epiplakin 1 gene DOID:4621 holoprosencephaly ISO RGD:1343625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12087570 EPPK1 epiplakin 1 gene DOID:630 genetic disease ISO RGD:1343625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087570 EPPK1 epiplakin 1 gene DOID:9001341 Chloracne ISO RGD:1343625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12087575 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1321287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 12087575 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ISO RGD:1321287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12087575 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ISO RGD:1321287 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D290V (human) PMID:23455423|REF_RGD_ID:10395280 12087575 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:0111384 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 ISO RGD:1321287 D RGD:7240710 20190315 OMIM 12087575 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:0111384 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 ISO RGD:1321287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 PMID:11891683|PMID:16199547|PMID:17576681|PMID:23455423|PMID:25741868|PMID:28389692|PMID:28492532|PMID:29358076|PMID:9536098 12087575 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:10652 Alzheimer's disease ISO RGD:1321287 D RGD:9068941 20200609 RGD protein:decreased expression:entorhinal cortex (human) PMID:22628224|REF_RGD_ID:9999191 12087575 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:224 transient cerebral ischemia ISO RGD:1310403 D RGD:9068941 20200609 RGD protein:altered expression:cerebral cortex, hippocampus (rat) PMID:20421594|REF_RGD_ID:10041006 12087575 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1321287 D RGD:9068941 20200609 RGD antibody 703D4 recognizes Hnrnpa2b1 protein (RGD:9685415);protein:increased expression:sputum (human) PMID:2846790|REF_RGD_ID:9685413 12087575 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12087575 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:4905 pancreatic carcinoma severity ISO RGD:1310403 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (rat) PMID:21472101|REF_RGD_ID:9587766 12087575 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:684 hepatocellular carcinoma ISO RGD:1310403 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:23633480|REF_RGD_ID:9685423 12087575 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:684 hepatocellular carcinoma ISO RGD:1321287 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:20604928|REF_RGD_ID:9685422 12087575 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:7148 rheumatoid arthritis severity ISO RGD:1310403 D RGD:9068941 20200609 RGD PMID:18025202|REF_RGD_ID:9685481 12087575 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1310403 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder (rat) PMID:18337374|REF_RGD_ID:9685410 12087575 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:9255 frontotemporal dementia ISO RGD:1321287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:23455423|PMID:25741868 12087607 TPK1 thiamin pyrophosphokinase 1 gene DOID:0090130 cortical dysplasia-focal epilepsy syndrome ISO RGD:1348190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome PMID:27439707 12087607 TPK1 thiamin pyrophosphokinase 1 gene DOID:630 genetic disease ISO RGD:1348190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22152682|PMID:25741868|PMID:26975778|PMID:28431625|PMID:28492532|PMID:28747443|PMID:28856750|PMID:30483896 12087607 TPK1 thiamin pyrophosphokinase 1 gene DOID:9003549 Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) ISO RGD:1348190 D RGD:7240710 20180130 OMIM 12087607 TPK1 thiamin pyrophosphokinase 1 gene DOID:9003549 Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) ISO RGD:1348190 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ENCEPHALOPATHY, EPISODIC, DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY | ClinVar Annotator: match by term: Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) PMID:16199547|PMID:17576681|PMID:22152682|PMID:25458521|PMID:25640679|PMID:25741868|PMID:26975778|PMID:28431625|PMID:28492532|PMID:28747443|PMID:28856750|PMID:30483896|PMID:30789823|PMID:31288420|PMID:31404531|PMID:32679198|PMID:33086386|PMID:9536098 12087628 PLAAT3 phospholipase A and acyltransferase 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:737532 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12087628 PLAAT3 phospholipase A and acyltransferase 3 gene DOID:1059 intellectual disability ISO RGD:737532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12087628 PLAAT3 phospholipase A and acyltransferase 3 gene DOID:4440 seminoma ISO RGD:737532 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:strong expression in normal tesis and preinvasive carcinoma in situ, no expression in malignant tumors PMID:11526504|REF_RGD_ID:2290002 12087628 PLAAT3 phospholipase A and acyltransferase 3 gene DOID:630 genetic disease ISO RGD:737532 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087628 PLAAT3 phospholipase A and acyltransferase 3 gene DOID:9004207 Testicular Neoplasms ISO RGD:737532 D RGD:9068941 20200609 RGD non-seminoma testicular germ cell tumors; mRNA:decreased expression:tumor:strong expression in normal tesis and preinvasive carcinoma in situ, no expression in malignant tumors PMID:11526504|REF_RGD_ID:2290002 12087628 PLAAT3 phospholipase A and acyltransferase 3 gene DOID:9008939 Breast Neoplasms ISO RGD:734412 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:tumor:mRNA decreased and protein undetectable in HRAS transgene-induced tumors PMID:9049257|REF_RGD_ID:2290001 12087643 QARS1 glutaminyl-tRNA synthetase 1 gene DOID:1059 intellectual disability ISO RGD:1346181 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28492532 12087643 QARS1 glutaminyl-tRNA synthetase 1 gene DOID:10907 microcephaly ISO RGD:1346181 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474 12087643 QARS1 glutaminyl-tRNA synthetase 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1346181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:28332277 12087643 QARS1 glutaminyl-tRNA synthetase 1 gene DOID:11446 sciatic neuropathy ISO RGD:1359448 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:dorsal root ganglion: PMID:25467976|REF_RGD_ID:12910554 12087643 QARS1 glutaminyl-tRNA synthetase 1 gene DOID:1826 epilepsy ISO RGD:1346181 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474 12087643 QARS1 glutaminyl-tRNA synthetase 1 gene DOID:540 strabismus ISO RGD:1346181 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474 12087643 QARS1 glutaminyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1346181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:24656866|PMID:25471517|PMID:25741868|PMID:28492532|PMID:32042906|PMID:9536098 12087643 QARS1 glutaminyl-tRNA synthetase 1 gene DOID:9000660 Choristoma ISO RGD:1346181 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ectopic tissue PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474 12087643 QARS1 glutaminyl-tRNA synthetase 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1346181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12087643 QARS1 glutaminyl-tRNA synthetase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1550740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12087643 QARS1 glutaminyl-tRNA synthetase 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1346181 D RGD:7240710 20180130 OMIM 12087643 QARS1 glutaminyl-tRNA synthetase 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1346181 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:16199547|PMID:17576681|PMID:24656866|PMID:25432320|PMID:25471517|PMID:25741868|PMID:26467025|PMID:26869582|PMID:28492532|PMID:29875423|PMID:30755392|PMID:31618474|PMID:32042906|PMID:9536098 12087643 QARS1 glutaminyl-tRNA synthetase 1 gene DOID:9004576 Sleep Initiation and Maintenance Disorders ISO RGD:1346181 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Insomnia PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474 12087643 QARS1 glutaminyl-tRNA synthetase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1346181 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:0050975 spinocerebellar ataxia type 26 ISO RGD:1343628 D RGD:7240710 20180130 OMIM 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:0050975 spinocerebellar ataxia type 26 ISO RGD:1343628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 26 PMID:15732118|PMID:23001565|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33355653 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:0080600 COVID-19 ISO RGD:1343628 D RGD:9068941 20200709 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:10283 prostate cancer ISO RGD:1343628 D RGD:9068941 20220728 RGD protein:increased expression:prostate (human) PMID:24589652|REF_RGD_ID:153297816 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:10534 stomach cancer ISO RGD:1343628 D RGD:9068941 20220728 RGD protein:increased expression:stomach (human) PMID:24589652|REF_RGD_ID:153297816 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:10534 stomach cancer disease_progression ISO RGD:1343628 D RGD:9068941 20220804 RGD human cells in mouse model PMID:19360331|REF_RGD_ID:153298969 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:1343628 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:brain: PMID:1331687|REF_RGD_ID:10401652 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:13938 amenorrhea ISO RGD:1343628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:1686 glaucoma ISO RGD:1343628 D RGD:9068941 20200609 RGD associated with Exfoliation Syndrome; PMID:20107165|REF_RGD_ID:10401222 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:1996 rectum adenocarcinoma ISO RGD:1343628 D RGD:9068941 20220804 RGD protein:increased expression:rectum (human) PMID:19360331|REF_RGD_ID:153298969 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:234 colon adenocarcinoma ISO RGD:1343628 D RGD:9068941 20220804 RGD protein:increased expression:colon(human) PMID:19360331|REF_RGD_ID:153298969 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:299 adenocarcinoma ISO RGD:1343628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21554491 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:3073 brain glioblastoma multiforme ISO RGD:1343628 D RGD:9068941 20220728 RGD protein:increased expression:brain (human) PMID:24589652|REF_RGD_ID:153297816 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:1343628 D RGD:9068941 20220728 RGD protein:increased expression:lung (human) PMID:27542262|REF_RGD_ID:153298910 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1343628 D RGD:9068941 20220728 RGD protein:increased expression:blood serum (human) PMID:24377563|REF_RGD_ID:153298905 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1343628 D RGD:9068941 20220728 RGD protein:increased expression:lung (human) PMID:21554491|REF_RGD_ID:153298904 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:4450 renal cell carcinoma ISO RGD:1343628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1343628 D RGD:9068941 20220728 RGD protein:increased expression:lung (human) PMID:24589652|REF_RGD_ID:153297816 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:630 genetic disease ISO RGD:1343628 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1343628 D RGD:9068941 20220804 RGD protein:increased expression, increased phosphorylation:liver (human) PMID:28060762|REF_RGD_ID:153298915 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:8398 osteoarthritis ISO RGD:1343628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1343628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:9002801 Recurrence ISO RGD:1343628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21554491 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:9004009 Reperfusion Injury ISO RGD:61979 D RGD:9068941 20200609 RGD protein:hypophosphorylation:cortex, hippocampus: PMID:15211596|REF_RGD_ID:10401223 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1343628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21554491 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1343628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21554491 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:61979 D RGD:9068941 20200609 RGD protein:decreased expression:cardiac muscle: PMID:7513958|REF_RGD_ID:10401649 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:9007980 Sleep Deprivation ISO RGD:61979 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:prefrontal cortex, dentate gyrus; PMID:22917528|REF_RGD_ID:10401259 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1343628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 12087674 EEF2 eukaryotic translation elongation factor 2 gene DOID:9256 colorectal cancer ISO RGD:1343628 D RGD:9068941 20220728 RGD protein:increased expression:colon (human) PMID:24589652|REF_RGD_ID:153297816 12087693 ZDHHC6 zinc finger DHHC-type palmitoyltransferase 6 gene DOID:630 genetic disease ISO RGD:1312223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087720 MTARC2 mitochondrial amidoxime reducing component 2 gene DOID:0050439 Usher syndrome ISO RGD:1606267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 12087720 MTARC2 mitochondrial amidoxime reducing component 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1606267 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 12087720 MTARC2 mitochondrial amidoxime reducing component 2 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1606267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12087720 MTARC2 mitochondrial amidoxime reducing component 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1606267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12087720 MTARC2 mitochondrial amidoxime reducing component 2 gene DOID:670 amphetamine abuse ISO RGD:1606267 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12087720 MTARC2 mitochondrial amidoxime reducing component 2 gene DOID:9006949 Martsolf Syndrome ISO RGD:1606267 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 12087720 MTARC2 mitochondrial amidoxime reducing component 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12087730 FST follistatin gene DOID:0050567 orofacial cleft ISO RGD:734008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofacial cleft PMID:31215115 12087730 FST follistatin gene DOID:0060762 restrictive dermopathy ISO RGD:10603 D RGD:9068941 20220825 MouseDO OMIM:275210 12087730 FST follistatin gene DOID:11162 respiratory failure ISO RGD:10603 D RGD:9068941 20200609 RGD PMID:7885475|REF_RGD_ID:737711 12087730 FST follistatin gene DOID:11612 polycystic ovary syndrome ISO RGD:734008 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:10411917|REF_RGD_ID:1601259 12087730 FST follistatin gene DOID:630 genetic disease ISO RGD:734008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087730 FST follistatin gene DOID:684 hepatocellular carcinoma ISO RGD:734008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12203361|PMID:19363144 12087730 FST follistatin gene DOID:767 muscular atrophy ISO RGD:734008 D RGD:9068941 20210709 CTD CTD Direct Evidence: therapeutic PMID:33034787 12087730 FST follistatin gene DOID:9000217 Stomach Neoplasms ISO RGD:734008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12087730 FST follistatin gene DOID:9001981 Weight Loss ISO RGD:734008 D RGD:9068941 20210709 CTD CTD Direct Evidence: therapeutic PMID:33034787 12087730 FST follistatin gene DOID:9003281 Spontaneous Abortions ISO RGD:734008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12087730 FST follistatin gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2633 D RGD:9068941 20230427 RGD mRNA:decreased expression:brain (rat) PMID:10415398|REF_RGD_ID:329322882 12087730 FST follistatin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12087730 FST follistatin gene DOID:9004590 Acute Liver Failure ISO RGD:734008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12560755 12087730 FST follistatin gene DOID:9007188 Liver Neoplasms ISO RGD:734008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12203361 12087730 FST follistatin gene DOID:9008939 Breast Neoplasms ISO RGD:734008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 12087741 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:11870 Pick's disease ISO RGD:732805 D RGD:9068941 20200609 RGD PMID:12392790|REF_RGD_ID:7495833 12087741 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:1205 allergic disease ISO RGD:732805 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21544193 12087741 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:397 restrictive cardiomyopathy ISO RGD:732805 D RGD:9068941 20200609 RGD PMID:11593045|REF_RGD_ID:1302548 12087741 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:732805 D RGD:9068941 20200609 RGD expression inhibits metastatic colonization of secondary sites by cancer cells in the SKOV3ip.1 cell line model system PMID:16489030|REF_RGD_ID:2293338 12087741 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:4362 cervical cancer ISO RGD:732805 D RGD:9068941 20200609 RGD PMID:20980434|REF_RGD_ID:7495806 12087741 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:630 genetic disease ISO RGD:732805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087741 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:678 progressive supranuclear palsy ISO RGD:732805 D RGD:9068941 20200609 RGD PMID:12392790|REF_RGD_ID:7495833 12087741 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:8634 prostate carcinoma in situ disease_progression ISO RGD:732805 D RGD:9068941 20200609 RGD protein:increased expression PMID:17577251|REF_RGD_ID:2293334 12087741 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:9000197 Edema ISO RGD:732805 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21544193 12087741 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1313499 D RGD:9068941 20200609 RGD PMID:17016428|REF_RGD_ID:7495832 12087741 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:9000774 Brain Death ISO RGD:620666 D RGD:9068941 20200609 RGD PMID:23157661|REF_RGD_ID:7495829 12087741 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1552419 D RGD:9068941 20200609 RGD protein:increased expression:tumor:increased in high-grade prostatic intraepithelial neoplasias and tumor tissues (p<0.0001) PMID:17577251|REF_RGD_ID:2293334 12087741 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732805 D RGD:9068941 20200609 RGD protein:increased expression:tumor:increased in high-grade prostatic intraepithelial neoplasias and tumor tissues (p<0.0001) PMID:17577251|REF_RGD_ID:2293334 12087741 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732805 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32512071 12087741 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:9002304 Prostatic Neoplasms no_association ISO RGD:732805 D RGD:9068941 20200609 RGD expression has no effect on metastatic colonization of secondary sites by cancer cells in the AT6.1 model system PMID:16322247|REF_RGD_ID:2293337 12087741 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:9002928 Colonic Neoplasms ISO RGD:732805 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15037631 12087741 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:9003936 Cardiomegaly ISO RGD:1552419 D RGD:9068941 20200609 RGD PMID:12750397|PMID:15722372|REF_RGD_ID:13782145|REF_RGD_ID:1582275 12087741 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620666 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney, glomerulus PMID:11473637|REF_RGD_ID:7495813 12087741 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1552419 D RGD:9068941 20200609 RGD PMID:14749328|REF_RGD_ID:7495840 12087741 MAP2K6 mitogen-activated protein kinase kinase 6 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:732805 D RGD:9068941 20200609 RGD PMID:15492008|REF_RGD_ID:1582277 12087765 SOX10 SRY-box transcription factor 10 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:731681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12087765 SOX10 SRY-box transcription factor 10 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:731681 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12087765 SOX10 SRY-box transcription factor 10 gene DOID:0090111 PCWH syndrome ISO RGD:731681 D RGD:7240710 20180130 OMIM 12087765 SOX10 SRY-box transcription factor 10 gene DOID:0090111 PCWH syndrome ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PCWH syndrome PMID:10482261|PMID:10762540|PMID:11026454|PMID:12447940|PMID:15004559|PMID:1636383|PMID:17855451|PMID:17999358|PMID:19764030|PMID:20127975|PMID:22008330|PMID:24033266|PMID:25741868|PMID:25991456|PMID:26467025|PMID:27240497|PMID:28492532|PMID:30311386|PMID:9462749 12087765 SOX10 SRY-box transcription factor 10 gene DOID:0090111 PCWH syndrome severity ISO RGD:731681 D RGD:9068941 20200609 RGD PMID:25959061|REF_RGD_ID:12802339 12087765 SOX10 SRY-box transcription factor 10 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:731681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12087765 SOX10 SRY-box transcription factor 10 gene DOID:0110948 Waardenburg syndrome type 1 ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 1 PMID:21898658|PMID:28390600 12087765 SOX10 SRY-box transcription factor 10 gene DOID:0110950 Waardenburg syndrome type 2A ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2A PMID:25741868|PMID:29407415|PMID:30311386|PMID:34599368 12087765 SOX10 SRY-box transcription factor 10 gene DOID:0110953 Waardenburg syndrome type 4A ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 4A PMID:25741868 12087765 SOX10 SRY-box transcription factor 10 gene DOID:0110955 Waardenburg syndrome type 4C ISO RGD:731681 D RGD:7240710 20180130 OMIM 12087765 SOX10 SRY-box transcription factor 10 gene DOID:0110955 Waardenburg syndrome type 4C ISO RGD:731681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 4C PMID:10077527|PMID:15004559|PMID:18348274|PMID:21965087|PMID:24033266|PMID:25741868|PMID:25991456|PMID:28492532|PMID:29407415|PMID:30311386|PMID:33442024|PMID:33724713|PMID:34599368|PMID:9462749 12087765 SOX10 SRY-box transcription factor 10 gene DOID:0110956 Waardenburg syndrome type 2E ISO RGD:731681 D RGD:7240710 20180130 OMIM 12087765 SOX10 SRY-box transcription factor 10 gene DOID:0110956 Waardenburg syndrome type 2E ISO RGD:731681 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2E | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, with neurologic involvement | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, without neurologic involvement PMID:10077527|PMID:10441344|PMID:17999358|PMID:18348267|PMID:18627047|PMID:19208381|PMID:20478267|PMID:21898658|PMID:21965087|PMID:23237859|PMID:23643381|PMID:24033266|PMID:25077900|PMID:25741868|PMID:26467025|PMID:27240497|PMID:27562378|PMID:28000701|PMID:28492532|PMID:31152317|PMID:31427586|PMID:32853555|PMID:32908489|PMID:33442024|PMID:33597575|PMID:33865100|PMID:34142234|PMID:35802133|PMID:36633841|PMID:8911608 12087765 SOX10 SRY-box transcription factor 10 gene DOID:10487 Hirschsprung's disease ISO RGD:731681 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:24357527 12087765 SOX10 SRY-box transcription factor 10 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11026454|PMID:16504559 12087765 SOX10 SRY-box transcription factor 10 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:731681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12087765 SOX10 SRY-box transcription factor 10 gene DOID:3614 Kallmann syndrome ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadism with anosmia 12087765 SOX10 SRY-box transcription factor 10 gene DOID:630 genetic disease ISO RGD:731681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12087765 SOX10 SRY-box transcription factor 10 gene DOID:9004042 Olfaction Disorders ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anosmia PMID:25741868 12087765 SOX10 SRY-box transcription factor 10 gene DOID:9004147 Anosmia ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anosmia PMID:25741868 12087765 SOX10 SRY-box transcription factor 10 gene DOID:9004538 Hearing Loss ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:17999358|PMID:20127975|PMID:26467025|PMID:27240497|PMID:28492532|PMID:30311386 12087765 SOX10 SRY-box transcription factor 10 gene DOID:9005027 Waardenburg Syndrome Type 4 ISO RGD:731681 D RGD:9068941 20200609 RGD DNA:missense mutations,insertion,deletion:cds: PMID:9462749|REF_RGD_ID:12832744 12087765 SOX10 SRY-box transcription factor 10 gene DOID:9008681 Deafness ISO RGD:731681 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Deafness with anatomical inner ear anomalies PMID:25077900|PMID:27562378|PMID:28492532|PMID:29419413|PMID:32908489|PMID:35802133|PMID:36633841 12087765 SOX10 SRY-box transcription factor 10 gene DOID:9258 Waardenburg's syndrome ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome PMID:17999358|PMID:20127975|PMID:22008330|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27240497|PMID:28492532|PMID:30311386|PMID:9462749 12087773 KIF6 kinesin family member 6 gene DOID:0080685 aortic dissection ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :p.W719R (rs20455) (human) PMID:28097184|REF_RGD_ID:243048448 12087773 KIF6 kinesin family member 6 gene DOID:10763 hypertension susceptibility ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP, haplotype: :rs20455 (p.W719R), rs6930913 (human) PMID:34961832|REF_RGD_ID:243048456 12087773 KIF6 kinesin family member 6 gene DOID:1287 cardiovascular system disease no_association ISO RGD:1346574 D RGD:9068941 20230401 RGD associated with type 2 diabetes mellitus;DNA:SNP: :p.W719R (rs20455) (human) PMID:21871624|REF_RGD_ID:243048453 12087773 KIF6 kinesin family member 6 gene DOID:3393 coronary artery disease ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :rs20455 (human) PMID:18222354|REF_RGD_ID:243048446 12087773 KIF6 kinesin family member 6 gene DOID:3393 coronary artery disease no_association ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :p.W719R (rs20455) (human) PMID:19371834|PMID:21458191|PMID:26997531|REF_RGD_ID:243048447|REF_RGD_ID:243048449|REF_RGD_ID:243048451 12087773 KIF6 kinesin family member 6 gene DOID:3393 coronary artery disease sexual_dimorphism ISO RGD:1346574 D RGD:9068941 20230401 RGD associated with type 2 diabetes mellitus;DNA:SNP: :p.W719R (rs20455) (human) PMID:25629058|REF_RGD_ID:243048454 12087773 KIF6 kinesin family member 6 gene DOID:3393 coronary artery disease treatment ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :p.W719R (rs20455) (human) PMID:26443250|REF_RGD_ID:11527801 12087773 KIF6 kinesin family member 6 gene DOID:5844 myocardial infarction ISO RGD:1346574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21943003 12087773 KIF6 kinesin family member 6 gene DOID:5844 myocardial infarction ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :rs20455 (human) PMID:18222354|REF_RGD_ID:243048446 12087773 KIF6 kinesin family member 6 gene DOID:5844 myocardial infarction no_association ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :p.W719R (rs20455) (human) PMID:19371834|PMID:20927332|PMID:26997531|REF_RGD_ID:243048447|REF_RGD_ID:243048449|REF_RGD_ID:243048450 12087773 KIF6 kinesin family member 6 gene DOID:5844 myocardial infarction treatment ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :p.W719R (rs20455) (human) PMID:20403483|REF_RGD_ID:11097528 12087773 KIF6 kinesin family member 6 gene DOID:630 genetic disease ISO RGD:1346574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087773 KIF6 kinesin family member 6 gene DOID:9007096 Stroke ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :p.W719R (rs20455) (human) PMID:19752551|REF_RGD_ID:2317144 12087773 KIF6 kinesin family member 6 gene DOID:9352 type 2 diabetes mellitus sexual_dimorphism ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :p.W719R (rs20455) (human) PMID:25629058|REF_RGD_ID:243048454 12087773 KIF6 kinesin family member 6 gene DOID:9408 acute myocardial infarction ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :p.W719R (rs20455) (human) PMID:20044086|REF_RGD_ID:243048455 12087796 MYF5 myogenic factor 5 gene DOID:0060249 scoliosis ISO RGD:1318025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:10844060|PMID:29887215 12087796 MYF5 myogenic factor 5 gene DOID:630 genetic disease ISO RGD:1318025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087796 MYF5 myogenic factor 5 gene DOID:9003625 OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES ISO RGD:1318025 D RGD:7240710 20210414 OMIM 12087796 MYF5 myogenic factor 5 gene DOID:9003625 OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES ISO RGD:1318025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ophthalmoplegia, external, with rib and vertebral anomalies PMID:10844060|PMID:25741868|PMID:29887215 12087802 OR4C12C olfactory receptor family 4 subfamily C member 12C gene DOID:10283 prostate cancer ISO RGD:1350996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12087802 OR4C12C olfactory receptor family 4 subfamily C member 12C gene DOID:1059 intellectual disability ISO RGD:1350996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12087802 OR4C12C olfactory receptor family 4 subfamily C member 12C gene DOID:630 genetic disease ISO RGD:1350996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087805 SPTBN2 spectrin beta, non-erythrocytic 2 gene DOID:0050753 cerebellar ataxia ISO RGD:731487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 12087805 SPTBN2 spectrin beta, non-erythrocytic 2 gene DOID:0050882 spinocerebellar ataxia type 5 ISO RGD:731487 D RGD:7240710 20180130 OMIM 12087805 SPTBN2 spectrin beta, non-erythrocytic 2 gene DOID:0050882 spinocerebellar ataxia type 5 ISO RGD:731487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 5 PMID:16429157|PMID:20368622|PMID:20603325|PMID:22843192|PMID:22914369|PMID:25057192|PMID:25741868|PMID:25741869|PMID:25981959|PMID:26467025|PMID:26633542|PMID:28492532|PMID:29389947|PMID:29590070|PMID:31066025|PMID:31721007|PMID:33318253|PMID:33801522 12087805 SPTBN2 spectrin beta, non-erythrocytic 2 gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:731487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:26467025|PMID:28492532 12087805 SPTBN2 spectrin beta, non-erythrocytic 2 gene DOID:0080058 autosomal recessive spinocerebellar ataxia 14 IAGP D RGD:12801476 20210603 OMIA Ataxia, spinocerebellar, SPTBN2-related PMID:22781464 12087805 SPTBN2 spectrin beta, non-erythrocytic 2 gene DOID:0080058 autosomal recessive spinocerebellar ataxia 14 ISO RGD:731487 D RGD:7240710 20180130 OMIM 12087805 SPTBN2 spectrin beta, non-erythrocytic 2 gene DOID:0080058 autosomal recessive spinocerebellar ataxia 14 ISO RGD:731487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14 PMID:17940722|PMID:23236289|PMID:23838597|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29196973|PMID:29590070 12087805 SPTBN2 spectrin beta, non-erythrocytic 2 gene DOID:1059 intellectual disability ISO RGD:731487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 12087805 SPTBN2 spectrin beta, non-erythrocytic 2 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:731487 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:17940722|PMID:25741868|PMID:26467025|PMID:28492532 12087805 SPTBN2 spectrin beta, non-erythrocytic 2 gene DOID:630 genetic disease ISO RGD:731487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17121810|PMID:17940722|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29590070 12087805 SPTBN2 spectrin beta, non-erythrocytic 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:731487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12087805 SPTBN2 spectrin beta, non-erythrocytic 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:731487 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12087805 SPTBN2 spectrin beta, non-erythrocytic 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:731487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12087852 B3GAT3 beta-1,3-glucuronyltransferase 3 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1323698 D RGD:7240710 20180307 OMIM 12087852 B3GAT3 beta-1,3-glucuronyltransferase 3 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1323698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type | ClinVar Annotator: match by term: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS | ClinVar Annotator: match by term: Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects PMID:16199547|PMID:17576681|PMID:20335603|PMID:21763480|PMID:24668659|PMID:25326635|PMID:25741868|PMID:25893793|PMID:26633542|PMID:27271787|PMID:27871226|PMID:28229453|PMID:28492532|PMID:31196143|PMID:31438591|PMID:31988067|PMID:9536098 12087852 B3GAT3 beta-1,3-glucuronyltransferase 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12087852 B3GAT3 beta-1,3-glucuronyltransferase 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1323698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20335603|PMID:28492532 12087852 B3GAT3 beta-1,3-glucuronyltransferase 3 gene DOID:1059 intellectual disability ISO RGD:1323698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12087852 B3GAT3 beta-1,3-glucuronyltransferase 3 gene DOID:630 genetic disease ISO RGD:1323698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12087852 B3GAT3 beta-1,3-glucuronyltransferase 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1323698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 12087866 OR52B4 olfactory receptor family 52 subfamily B member 4 gene DOID:0080773 delta beta-thalassemia ISO RGD:1316140 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12087866 OR52B4 olfactory receptor family 52 subfamily B member 4 gene DOID:630 genetic disease ISO RGD:1316140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087869 UNC45A unc-45 myosin chaperone A gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1603630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12087869 UNC45A unc-45 myosin chaperone A gene DOID:13250 diarrhea ISO RGD:1603630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diarrhea PMID:25741868 12087869 UNC45A unc-45 myosin chaperone A gene DOID:2717 Bloom syndrome ISO RGD:1603630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12087869 UNC45A unc-45 myosin chaperone A gene DOID:630 genetic disease ISO RGD:1603630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12087869 UNC45A unc-45 myosin chaperone A gene DOID:9004291 Osteootohepatoenteric Syndrome ISO RGD:1603630 D RGD:7240710 20210616 OMIM 12087869 UNC45A unc-45 myosin chaperone A gene DOID:9004291 Osteootohepatoenteric Syndrome ISO RGD:1603630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteootohepatoenteric syndrome PMID:25741868|PMID:28492532|PMID:29429573|PMID:31231135 12087896 RAD51D RAD51 paralog D gene DOID:0070271 Lynch syndrome 1 ISO RGD:1315846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:21822267|PMID:25741868|PMID:26261251|PMID:26467025|PMID:28492532|PMID:29371908|PMID:31159747 12087896 RAD51D RAD51 paralog D gene DOID:10534 stomach cancer ISO RGD:1315846 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10749867|PMID:14704354|PMID:19327148|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24240112|PMID:25445424|PMID:25452441|PMID:25741868|PMID:26046366|PMID:26057125|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26659639|PMID:26681312|PMID:27083178|PMID:27093186|PMID:27978560|PMID:28008555|PMID:28423363|PMID:28492532|PMID:28724667|PMID:29020732|PMID:29255180|PMID:29348823|PMID:29360550|PMID:29409816|PMID:29566657|PMID:30103829|PMID:30111881|PMID:30322717|PMID:31300551|PMID:31843900|PMID:32029870|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32566746|PMID:32885271|PMID:32980694|PMID:33471991|PMID:33504652|PMID:34838098|PMID:36988593 12087896 RAD51D RAD51 paralog D gene DOID:1520 colon carcinoma ISO RGD:1315846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:25741868|PMID:28492532 12087896 RAD51D RAD51 paralog D gene DOID:1612 breast cancer ISO RGD:1315846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30374176|PMID:30651582|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32107557|PMID:32295079|PMID:32566746 12087896 RAD51D RAD51 paralog D gene DOID:1612 breast cancer ISO RGD:1315846 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30374176|PMID:30651582|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32107557|PMID:32295079|PMID:32566746|PMID:32885271 12087896 RAD51D RAD51 paralog D gene DOID:1612 breast cancer ISO RGD:1315846 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30374176|PMID:30651582|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32338768|PMID:32426482|PMID:32566746|PMID:32885271|PMID:33471991|PMID:34200360 12087896 RAD51D RAD51 paralog D gene DOID:1612 breast cancer ISO RGD:1315846 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, protection against | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30165555|PMID:30374176|PMID:30651582|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32756499|PMID:32885271|PMID:33471991|PMID:34200360 12087896 RAD51D RAD51 paralog D gene DOID:1612 breast cancer ISO RGD:1315846 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30165555|PMID:30374176|PMID:30651582|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32756499|PMID:32885271|PMID:33471991|PMID:34117267|PMID:34200360 12087896 RAD51D RAD51 paralog D gene DOID:1612 breast cancer ISO RGD:1315846 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30165555|PMID:30374176|PMID:30651582|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32885271|PMID:33471991|PMID:33630411|PMID:34117267|PMID:34200360|PMID:34606182|PMID:35565380|PMID:35710434|PMID:36988593 12087896 RAD51D RAD51 paralog D gene DOID:3459 breast carcinoma ISO RGD:1315846 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:21822267|PMID:25741868|PMID:26720727|PMID:26720728|PMID:28492532|PMID:28724667|PMID:30165555 12087896 RAD51D RAD51 paralog D gene DOID:4001 ovarian carcinoma ISO RGD:1315846 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:16199547|PMID:21822267|PMID:25741868|PMID:26720727|PMID:26720728|PMID:28492532|PMID:28724667|PMID:30165555|PMID:32107557 12087896 RAD51D RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:30086788|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:6329717|PMID:9536098 12087896 RAD51D RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:30086788|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:6329717|PMID:9536098 12087896 RAD51D RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27854218|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29625052|PMID:30086788|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:34200360|PMID:6329717|PMID:9536098 12087896 RAD51D RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:33901219|PMID:34200360|PMID:34923718|PMID:6329717|PMID:9536098 12087896 RAD51D RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:33901219|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:6329717|PMID:9536098 12087896 RAD51D RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33901219|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:6329717|PMID:9536098 12087896 RAD51D RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:35565380|PMID:6329717|PMID:9536098 12087896 RAD51D RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35565380|PMID:6329717|PMID:9536098 12087896 RAD51D RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098 12087896 RAD51D RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome susceptibility ISO RGD:1315846 D RGD:7240710 20190502 OMIM 12087896 RAD51D RAD51 paralog D gene DOID:9002762 Ovarian Neoplasms ISO RGD:1315846 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:10749867|PMID:14704354|PMID:16199547|PMID:19327148|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24240112|PMID:25445424|PMID:25452441|PMID:25741868|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26659639|PMID:26681312|PMID:26822949|PMID:27083178|PMID:27153395|PMID:27273131|PMID:28008555|PMID:28423363|PMID:28492532|PMID:28724667|PMID:28821472|PMID:28874143|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29348823|PMID:29409816|PMID:29566657|PMID:30111881|PMID:30165555|PMID:30927251|PMID:30980208|PMID:31300551|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32566746|PMID:32885271|PMID:33471991|PMID:36988593 12087896 RAD51D RAD51 paralog D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12087896 RAD51D RAD51 paralog D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315846 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33471991|PMID:33901219|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:6329717|PMID:9536098 12087896 RAD51D RAD51 paralog D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315846 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33901219|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:6329717|PMID:9536098 12087896 RAD51D RAD51 paralog D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:35565380|PMID:6329717|PMID:9536098 12087896 RAD51D RAD51 paralog D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35565380|PMID:6329717|PMID:9536098 12087896 RAD51D RAD51 paralog D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315846 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098 12087896 RAD51D RAD51 paralog D gene DOID:9008165 Chromosome Deletion ISO RGD:1315846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27924006 12087896 RAD51D RAD51 paralog D gene DOID:9008952 Breast Cancer, Familial ISO RGD:1315846 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16199547|PMID:21822267|PMID:25741868|PMID:28492532|PMID:32107557 12087896 RAD51D RAD51 paralog D gene DOID:9256 colorectal cancer ISO RGD:1315846 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:20665887|PMID:21822267|PMID:22986143|PMID:24130102|PMID:24240112|PMID:25445424|PMID:25741868|PMID:26057125|PMID:26467025|PMID:26659639|PMID:26681312|PMID:27083178|PMID:28423363|PMID:28492532|PMID:29409816|PMID:32295079|PMID:32359370|PMID:36988593 12087910 TRAF3IP1 TRAF3 interacting protein 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1319493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:28492532|PMID:29068549 12087910 TRAF3IP1 TRAF3 interacting protein 1 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1319493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:16199547|PMID:21945076|PMID:26487268|PMID:28492532|PMID:29068549 12087910 TRAF3IP1 TRAF3 interacting protein 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1319493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12087910 TRAF3IP1 TRAF3 interacting protein 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1319493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12087910 TRAF3IP1 TRAF3 interacting protein 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1319493 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12087910 TRAF3IP1 TRAF3 interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:1319493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12087910 TRAF3IP1 TRAF3 interacting protein 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1319493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:25741868 12087910 TRAF3IP1 TRAF3 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1319493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12087910 TRAF3IP1 TRAF3 interacting protein 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1319493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12087910 TRAF3IP1 TRAF3 interacting protein 1 gene DOID:9001693 Senior-Loken Syndrome 9 ISO RGD:1319493 D RGD:7240710 20180130 OMIM 12087910 TRAF3IP1 TRAF3 interacting protein 1 gene DOID:9001693 Senior-Loken Syndrome 9 ISO RGD:1319493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 9 PMID:21945076|PMID:25741868|PMID:26487268|PMID:28492532|PMID:29068549 12087933 RHEX regulator of hemoglobinization and erythroid cell expansion gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12087933 RHEX regulator of hemoglobinization and erythroid cell expansion gene DOID:12849 autistic disorder ISO RGD:1606860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12087933 RHEX regulator of hemoglobinization and erythroid cell expansion gene DOID:1540 parathyroid carcinoma ISO RGD:1606860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12087933 RHEX regulator of hemoglobinization and erythroid cell expansion gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606860 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12087933 RHEX regulator of hemoglobinization and erythroid cell expansion gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12087943 STXBP6 syntaxin binding protein 6 gene DOID:12849 autistic disorder ISO RGD:1314544 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20071347 12087943 STXBP6 syntaxin binding protein 6 gene DOID:630 genetic disease ISO RGD:1314544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087943 STXBP6 syntaxin binding protein 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314544 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12087959 DENND1A DENN domain containing 1A gene DOID:630 genetic disease ISO RGD:1317405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087993 CDC25C cell division cycle 25C gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1323559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12087993 CDC25C cell division cycle 25C gene DOID:0080365 endometrial hyperplasia ISO RGD:1323559 D RGD:9068941 20200609 RGD PMID:12931023|REF_RGD_ID:4105452 12087993 CDC25C cell division cycle 25C gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323559 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12087993 CDC25C cell division cycle 25C gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1323559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12087993 CDC25C cell division cycle 25C gene DOID:10283 prostate cancer ISO RGD:1323559 D RGD:9068941 20200609 RGD PMID:12896904|PMID:16140946|PMID:17460776|REF_RGD_ID:2756028|REF_RGD_ID:2774210|REF_RGD_ID:4105453 12087993 CDC25C cell division cycle 25C gene DOID:10283 prostate cancer ISO RGD:1323559 D RGD:9068941 20200609 RGD mRNA, protein:alternative form, increased expression, increased activity:prostate gland PMID:16000564|REF_RGD_ID:2776427 12087993 CDC25C cell division cycle 25C gene DOID:1380 endometrial cancer ISO RGD:1323559 D RGD:9068941 20200609 RGD DNA:mutation (human) PMID:12124347|REF_RGD_ID:4105455 12087993 CDC25C cell division cycle 25C gene DOID:1612 breast cancer ISO RGD:1323559 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15567944|REF_RGD_ID:4105448 12087993 CDC25C cell division cycle 25C gene DOID:2101 vulva squamous cell carcinoma disease_progression ISO RGD:1323559 D RGD:9068941 20200609 RGD protein:increased expression:vulva PMID:20500813|REF_RGD_ID:2729590 12087993 CDC25C cell division cycle 25C gene DOID:4362 cervical cancer ISO RGD:1323559 D RGD:9068941 20200609 RGD PMID:15289842|REF_RGD_ID:4105450 12087993 CDC25C cell division cycle 25C gene DOID:630 genetic disease ISO RGD:1323559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12087993 CDC25C cell division cycle 25C gene DOID:684 hepatocellular carcinoma ISO RGD:1323559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12087993 CDC25C cell division cycle 25C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12087993 CDC25C cell division cycle 25C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12087993 CDC25C cell division cycle 25C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323559 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12088032 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:0050120 hemophagocytic lymphohistiocytosis ISO RGD:734036 D RGD:9068941 20220825 MouseDO 12088032 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:734035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy PMID:26392352|PMID:28492532 12088032 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:0050902 medulloblastoma ISO RGD:734035 D RGD:7240710 20211020 OMIM 12088032 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:0050902 medulloblastoma ISO RGD:734035 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:11179008|PMID:11179021|PMID:12116234|PMID:16199547|PMID:18303054|PMID:22975760|PMID:24173031|PMID:25741868|PMID:26392352|PMID:28492532|PMID:29289840|PMID:32296180 12088032 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:0050902 medulloblastoma ISO RGD:734035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:11179008|PMID:11179021|PMID:12116234|PMID:16199547|PMID:17576681|PMID:18303054|PMID:22975760|PMID:24173031|PMID:25741868|PMID:26392352|PMID:28492532|PMID:29289840|PMID:32296180|PMID:9536098 12088032 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:0060249 scoliosis ISO RGD:734035 D RGD:9068941 20200609 RGD PMID:11097445|REF_RGD_ID:5129159 12088032 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:0080435 developmental and epileptic encephalopathy 37 ISO RGD:734035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 PMID:28492532 12088032 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:734035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10090896|PMID:11179008|PMID:11179021|PMID:12116234|PMID:12687659|PMID:16964593|PMID:17206408|PMID:18091349|PMID:18197058|PMID:20301359|PMID:22190446|PMID:22850346|PMID:22975760|PMID:23515154|PMID:24033266|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29289840|PMID:29290691|PMID:9536098 12088032 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:734035 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10090896|PMID:11179008|PMID:11179021|PMID:12116234|PMID:12687659|PMID:16964593|PMID:17206408|PMID:17576681|PMID:18091349|PMID:18197058|PMID:20301359|PMID:22190446|PMID:22850346|PMID:22975760|PMID:23515154|PMID:24033266|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29289840|PMID:29290691|PMID:29762696|PMID:9536098 12088032 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:11589 Riley-Day syndrome ISO RGD:734035 D RGD:7240710 20180130 OMIM 12088032 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:11589 Riley-Day syndrome ISO RGD:734035 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial dysautonomia PMID:10090896|PMID:11179008|PMID:11179021|PMID:12116234|PMID:12687659|PMID:16199547|PMID:16964593|PMID:17206408|PMID:17576681|PMID:18091349|PMID:18197058|PMID:18303054|PMID:20301359|PMID:22190446|PMID:22850346|PMID:22975760|PMID:23515154|PMID:24033266|PMID:24173031|PMID:24995671|PMID:25741868|PMID:26264438|PMID:26392352|PMID:27065010|PMID:27104957|PMID:27582484|PMID:28492532|PMID:29289840|PMID:29290691|PMID:29762696|PMID:32296180|PMID:9536098 12088032 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:1926 Gaucher's disease ISO RGD:734035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gaucher disease PMID:28492532 12088032 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:2841 asthma ISO RGD:734035 D RGD:9068941 20200609 RGD PMID:11281413|REF_RGD_ID:5129157 12088032 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:2841 asthma no_association ISO RGD:734035 D RGD:9068941 20200609 RGD PMID:12774215|REF_RGD_ID:5129158 12088032 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:630 genetic disease ISO RGD:734035 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11179008|PMID:11179021|PMID:12116234|PMID:16964593|PMID:17206408|PMID:17576681|PMID:18303054|PMID:20301359|PMID:22190446|PMID:22850346|PMID:23515154|PMID:24033266|PMID:24173031|PMID:24995671|PMID:25741868|PMID:26264438|PMID:26392352|PMID:27065010|PMID:27582484|PMID:28492532|PMID:29762696|PMID:9536098 12088032 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:9003358 Kyphosis ISO RGD:734035 D RGD:9068941 20200609 RGD PMID:11097445|REF_RGD_ID:5129159 12088032 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:734035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 12088032 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:9008939 Breast Neoplasms ISO RGD:734035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 12088079 NUDT14 nudix hydrolase 14 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1321575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12088079 NUDT14 nudix hydrolase 14 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1321575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 12088079 NUDT14 nudix hydrolase 14 gene DOID:630 genetic disease ISO RGD:1321575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088092 LOC100685852 protein WFDC9-like gene DOID:2234 focal epilepsy ISO RGD:1350341 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12088092 LOC100685852 protein WFDC9-like gene DOID:630 genetic disease ISO RGD:1350341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088092 LOC100685852 protein WFDC9-like gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350341 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12088099 DEFB112 defensin beta 112 gene DOID:630 genetic disease ISO RGD:1353566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088109 SERPINB12 serpin family B member 12 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1343942 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12088109 SERPINB12 serpin family B member 12 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1343942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 12088109 SERPINB12 serpin family B member 12 gene DOID:630 genetic disease ISO RGD:1343942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088122 POFUT2 protein O-fucosyltransferase 2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1316469 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12088122 POFUT2 protein O-fucosyltransferase 2 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1316469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 12088122 POFUT2 protein O-fucosyltransferase 2 gene DOID:0110266 cataract 9 multiple types ISO RGD:1316469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12088122 POFUT2 protein O-fucosyltransferase 2 gene DOID:12849 autistic disorder ISO RGD:1316469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12088122 POFUT2 protein O-fucosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1316469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088122 POFUT2 protein O-fucosyltransferase 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1316469 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12088122 POFUT2 protein O-fucosyltransferase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12088122 POFUT2 protein O-fucosyltransferase 2 gene DOID:9263 homocystinuria ISO RGD:1316469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12088122 POFUT2 protein O-fucosyltransferase 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316469 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12088136 ZFP36L2 ZFP36 ring finger protein like 2 gene DOID:0080600 COVID-19 ISO RGD:1318953 D RGD:9068941 20200709 RGD mRNA:decreased expression:memory B cells (human) PMID:32377375|REF_RGD_ID:32716422 12088136 ZFP36L2 ZFP36 ring finger protein like 2 gene DOID:3883 Lynch syndrome ISO RGD:1318953 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12088136 ZFP36L2 ZFP36 ring finger protein like 2 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1318953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28671688 12088136 ZFP36L2 ZFP36 ring finger protein like 2 gene DOID:630 genetic disease ISO RGD:1318953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088136 ZFP36L2 ZFP36 ring finger protein like 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12088136 ZFP36L2 ZFP36 ring finger protein like 2 gene DOID:9004592 Oocyte/Zygote/Embryo Maturation Arrest 13 ISO RGD:1318953 D RGD:7240710 20221214 OMIM 12088136 ZFP36L2 ZFP36 ring finger protein like 2 gene DOID:9004592 Oocyte/Zygote/Embryo Maturation Arrest 13 ISO RGD:1318953 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 13 PMID:34611029 12088136 ZFP36L2 ZFP36 ring finger protein like 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 12088142 ZFX zinc finger protein X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12088142 ZFX zinc finger protein X-linked gene DOID:12849 autistic disorder ISO RGD:1344344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12088142 ZFX zinc finger protein X-linked gene DOID:630 genetic disease ISO RGD:1344344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088142 ZFX zinc finger protein X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12088256 OR5B31 olfactory receptor family 5 subfamily B member 31 gene DOID:1059 intellectual disability ISO RGD:1347466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12088256 OR5B31 olfactory receptor family 5 subfamily B member 31 gene DOID:630 genetic disease ISO RGD:1347466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088259 ATP5MC2 ATP synthase membrane subunit c locus 2 gene DOID:9970 obesity ISO RGD:731824 D RGD:9068941 20200609 RGD PMID:26709097|REF_RGD_ID:11535661 12088272 ITPKA inositol-trisphosphate 3-kinase A gene DOID:2717 Bloom syndrome ISO RGD:732603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12088272 ITPKA inositol-trisphosphate 3-kinase A gene DOID:630 genetic disease ISO RGD:732603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088272 ITPKA inositol-trisphosphate 3-kinase A gene DOID:9256 colorectal cancer ISO RGD:732603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12088284 BEST2 bestrophin 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1313368 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12088284 BEST2 bestrophin 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1313368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12088284 BEST2 bestrophin 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1313368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12088284 BEST2 bestrophin 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1313368 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12088284 BEST2 bestrophin 2 gene DOID:630 genetic disease ISO RGD:1313368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088306 ZP2 zona pellucida glycoprotein 2 gene DOID:630 genetic disease ISO RGD:735363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088306 ZP2 zona pellucida glycoprotein 2 gene DOID:9001599 Oocyte Maturation Defect 6 ISO RGD:735363 D RGD:7240710 20190315 OMIM 12088306 ZP2 zona pellucida glycoprotein 2 gene DOID:9001599 Oocyte Maturation Defect 6 ISO RGD:735363 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 6 PMID:25741868|PMID:28971300|PMID:29895852|PMID:30810869|PMID:35211729 12088328 C15H1orf94 chromosome 15 C1orf94 homolog gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1602848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12088328 C15H1orf94 chromosome 15 C1orf94 homolog gene DOID:630 genetic disease ISO RGD:1602848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088340 ELAVL4 ELAV like RNA binding protein 4 gene DOID:11446 sciatic neuropathy ISO RGD:1560027 D RGD:9068941 20200609 RGD PMID:12957493|REF_RGD_ID:1579851 12088340 ELAVL4 ELAV like RNA binding protein 4 gene DOID:1459 hypothyroidism ISO RGD:1560027 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain: PMID:12859688|REF_RGD_ID:1579855 12088340 ELAVL4 ELAV like RNA binding protein 4 gene DOID:1824 status epilepticus ISO RGD:1560027 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus: PMID:17577668|REF_RGD_ID:9685310 12088340 ELAVL4 ELAV like RNA binding protein 4 gene DOID:630 genetic disease ISO RGD:1348119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088340 ELAVL4 ELAV like RNA binding protein 4 gene DOID:8927 learning disability ISO RGD:1560027 D RGD:9068941 20200609 RGD PMID:23545166|REF_RGD_ID:9685325 12088340 ELAVL4 ELAV like RNA binding protein 4 gene DOID:9002189 High Myopia ISO RGD:1348119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12088367 OGDH oxoglutarate dehydrogenase gene DOID:0081326 oxoglutarate dehydrogenase deficiency ISO RGD:1353072 D RGD:7240710 20180130 OMIM 12088367 OGDH oxoglutarate dehydrogenase gene DOID:0081326 oxoglutarate dehydrogenase deficiency ISO RGD:1353072 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 2 alpha ketoglutarate dehydrogenase deficiency | ClinVar Annotator: match by term: Alpha-ketoglutarate dehydrogenase deficiency PMID:17576681|PMID:25741868|PMID:28492532|PMID:32383294|PMID:36520152|PMID:9536098 12088367 OGDH oxoglutarate dehydrogenase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12088367 OGDH oxoglutarate dehydrogenase gene DOID:630 genetic disease ISO RGD:1353072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12088367 OGDH oxoglutarate dehydrogenase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12088368 ACP6 acid phosphatase 6, lysophosphatidic gene DOID:0060041 autism spectrum disorder ISO RGD:1314899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 12088368 ACP6 acid phosphatase 6, lysophosphatidic gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:1314899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome 12088368 ACP6 acid phosphatase 6, lysophosphatidic gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:1314899 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 12088368 ACP6 acid phosphatase 6, lysophosphatidic gene DOID:0110231 cataract 1 multiple types ISO RGD:1314899 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 1 multiple types PMID:17601931|PMID:23720739|PMID:23772370|PMID:28492532 12088368 ACP6 acid phosphatase 6, lysophosphatidic gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1314899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 12088368 ACP6 acid phosphatase 6, lysophosphatidic gene DOID:1540 parathyroid carcinoma ISO RGD:1314899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12088368 ACP6 acid phosphatase 6, lysophosphatidic gene DOID:5419 schizophrenia ISO RGD:1314899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12088368 ACP6 acid phosphatase 6, lysophosphatidic gene DOID:630 genetic disease ISO RGD:1314899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088368 ACP6 acid phosphatase 6, lysophosphatidic gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12088368 ACP6 acid phosphatase 6, lysophosphatidic gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1314899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 12088368 ACP6 acid phosphatase 6, lysophosphatidic gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12088382 LOC477391 zinc finger protein 596-like gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1603930 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12088382 LOC477391 zinc finger protein 596-like gene DOID:13938 amenorrhea ISO RGD:1603930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12088382 LOC477391 zinc finger protein 596-like gene DOID:1540 parathyroid carcinoma ISO RGD:1603930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12088382 LOC477391 zinc finger protein 596-like gene DOID:630 genetic disease ISO RGD:1603930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088382 LOC477391 zinc finger protein 596-like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12088399 TCTN2 tectonic family member 2 gene DOID:0050777 Joubert syndrome ISO RGD:1605624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:17576681|PMID:21462283|PMID:21565611|PMID:22331178|PMID:23169490|PMID:24033266|PMID:25118024|PMID:25640679|PMID:25741868|PMID:26092869|PMID:26729329|PMID:28492532|PMID:28771248|PMID:31428121|PMID:9536098 12088399 TCTN2 tectonic family member 2 gene DOID:0050778 Meckel syndrome ISO RGD:1605624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868|PMID:28492532 12088399 TCTN2 tectonic family member 2 gene DOID:0070120 Meckel syndrome 6 ISO RGD:1605624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 6 PMID:16199547|PMID:21462283|PMID:21565611|PMID:23169490|PMID:25741868|PMID:26729329|PMID:28492532|PMID:31428121 12088399 TCTN2 tectonic family member 2 gene DOID:0070122 Meckel syndrome 8 ISO RGD:1605624 D RGD:7240710 20180130 OMIM 12088399 TCTN2 tectonic family member 2 gene DOID:0070122 Meckel syndrome 8 ISO RGD:1605624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 8 | ClinVar Annotator: match by term: TCTN2-Related Disorders PMID:16199547|PMID:17576681|PMID:21462283|PMID:21565611|PMID:22331178|PMID:23169490|PMID:25118024|PMID:25741868|PMID:26092869|PMID:26729329|PMID:28492532|PMID:31428121|PMID:9536098 12088399 TCTN2 tectonic family member 2 gene DOID:0070134 autosomal recessive cutis laxa type IIA ISO RGD:1605624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa with osteodystrophy PMID:25741868 12088399 TCTN2 tectonic family member 2 gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:1605624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:28492532 12088399 TCTN2 tectonic family member 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1605624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis PMID:16199547|PMID:17576681|PMID:21565611|PMID:22331178|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28771248|PMID:9536098 12088399 TCTN2 tectonic family member 2 gene DOID:0110993 Joubert syndrome 24 ISO RGD:1605624 D RGD:7240710 20180130 OMIM 12088399 TCTN2 tectonic family member 2 gene DOID:0110993 Joubert syndrome 24 ISO RGD:1605624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 24 PMID:17576681|PMID:21462283|PMID:21565611|PMID:22331178|PMID:25118024|PMID:25741868|PMID:26092869|PMID:28492532|PMID:9536098 12088399 TCTN2 tectonic family member 2 gene DOID:10907 microcephaly ISO RGD:1605624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12088399 TCTN2 tectonic family member 2 gene DOID:630 genetic disease ISO RGD:1605624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12088399 TCTN2 tectonic family member 2 gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:1605624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, recessive PMID:25741868|PMID:28492532 12088423 DRG1 developmentally regulated GTP binding protein 1 gene DOID:630 genetic disease ISO RGD:1312753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088423 DRG1 developmentally regulated GTP binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12088423 DRG1 developmentally regulated GTP binding protein 1 gene DOID:9006836 Contracture ISO RGD:1312753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 12088436 KLHDC2 kelch domain containing 2 gene DOID:630 genetic disease ISO RGD:1315157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088436 KLHDC2 kelch domain containing 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1315157 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12088436 KLHDC2 kelch domain containing 2 gene DOID:9004881 Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy ISO RGD:1315157 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay and axonal peripheral neuropathy PMID:25741868 12088456 DDX31 DEAD-box helicase 31 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1312596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12088456 DDX31 DEAD-box helicase 31 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1312596 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12088456 DDX31 DEAD-box helicase 31 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1312596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12088456 DDX31 DEAD-box helicase 31 gene DOID:0081097 Rafiq syndrome ISO RGD:1312596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12088456 DDX31 DEAD-box helicase 31 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1312596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12088456 DDX31 DEAD-box helicase 31 gene DOID:3652 Leigh disease ISO RGD:1312596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12088456 DDX31 DEAD-box helicase 31 gene DOID:630 genetic disease ISO RGD:1312596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088501 MAPKAP1 MAPK associated protein 1 gene DOID:630 genetic disease ISO RGD:1313344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088534 PPARD peroxisome proliferator activated receptor delta gene DOID:0050553 JMP syndrome ISO RGD:736289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12088534 PPARD peroxisome proliferator activated receptor delta gene DOID:0050700 cardiomyopathy ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20075336 12088534 PPARD peroxisome proliferator activated receptor delta gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16574099|PMID:29289645 12088534 PPARD peroxisome proliferator activated receptor delta gene DOID:1793 pancreatic cancer disease_progression ISO RGD:736289 D RGD:9068941 20200609 RGD PMID:17652168|REF_RGD_ID:2324872 12088534 PPARD peroxisome proliferator activated receptor delta gene DOID:1909 melanoma ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28962521 12088534 PPARD peroxisome proliferator activated receptor delta gene DOID:4607 biliary tract cancer ISO RGD:736289 D RGD:9068941 20200609 RGD PMID:18497548|REF_RGD_ID:2324871 12088534 PPARD peroxisome proliferator activated receptor delta gene DOID:574 peripheral nervous system disease ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405|PMID:21245421 12088534 PPARD peroxisome proliferator activated receptor delta gene DOID:630 genetic disease ISO RGD:736289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088534 PPARD peroxisome proliferator activated receptor delta gene DOID:9000039 Spinal Cord Injuries ISO RGD:3370 D RGD:9068941 20200609 RGD PMID:20058304|REF_RGD_ID:2324875 12088534 PPARD peroxisome proliferator activated receptor delta gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27765815 12088534 PPARD peroxisome proliferator activated receptor delta gene DOID:9003936 Cardiomegaly ISO RGD:3370 D RGD:9068941 20200609 RGD PMID:15728586|REF_RGD_ID:1580656 12088534 PPARD peroxisome proliferator activated receptor delta gene DOID:9003936 Cardiomegaly ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20075336 12088534 PPARD peroxisome proliferator activated receptor delta gene DOID:9004464 Skin Neoplasms ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19748995|PMID:21159610 12088534 PPARD peroxisome proliferator activated receptor delta gene DOID:9004657 Weight Gain ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20176998 12088534 PPARD peroxisome proliferator activated receptor delta gene DOID:9004713 Acute-Phase Reaction ISO RGD:3370 D RGD:9068941 20200609 RGD PMID:17461989|REF_RGD_ID:2324886 12088534 PPARD peroxisome proliferator activated receptor delta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3370 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart PMID:18573863|REF_RGD_ID:2313781 12088534 PPARD peroxisome proliferator activated receptor delta gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3370 D RGD:9068941 20200609 RGD PMID:19997057|REF_RGD_ID:2324876 12088534 PPARD peroxisome proliferator activated receptor delta gene DOID:9352 type 2 diabetes mellitus ISO RGD:736289 D RGD:9068941 20200609 RGD DNA:SNPs PMID:16804087|REF_RGD_ID:1625186 12088534 PPARD peroxisome proliferator activated receptor delta gene DOID:9452 fatty liver disease ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23851158 12088534 PPARD peroxisome proliferator activated receptor delta gene DOID:9970 obesity ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16168052|PMID:20176998 12088562 SLC45A4 solute carrier family 45 member 4 gene DOID:630 genetic disease ISO RGD:1607016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088584 LOC482182 sulfotransferase 1E1 gene DOID:12351 alcoholic hepatitis ISO RGD:1351097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26220752 12088584 LOC482182 sulfotransferase 1E1 gene DOID:1380 endometrial cancer ISO RGD:1351097 D RGD:9068941 20200609 RGD DNA:SNP:haplotype:rs3736599 (GA+AA) combined with SULT1A1 SNP rs9282861 (GA + AA) or with CYP1A1 SNP rs4646903 (TT) PMID:18318428|REF_RGD_ID:2301040 12088584 LOC482182 sulfotransferase 1E1 gene DOID:1612 breast cancer susceptibility ISO RGD:1351097 D RGD:9068941 20200609 RGD DNA:SNP:intron, 3' utr:IVS4-1653T>C, *959G>A PMID:15894657|REF_RGD_ID:1581439 12088584 LOC482182 sulfotransferase 1E1 gene DOID:1612 breast cancer susceptibility ISO RGD:1351097 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-64G>A PMID:17372239|REF_RGD_ID:2302563 12088584 LOC482182 sulfotransferase 1E1 gene DOID:409 liver disease ISO RGD:1351097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25922074 12088584 LOC482182 sulfotransferase 1E1 gene DOID:630 genetic disease ISO RGD:1351097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088584 LOC482182 sulfotransferase 1E1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:3776 D RGD:9068941 20200609 RGD associated with Colonic Neoplasms;protein:increased expression:liver PMID:16895976|REF_RGD_ID:2302565 12088584 LOC482182 sulfotransferase 1E1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1351097 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12088584 LOC482182 sulfotransferase 1E1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 12088584 LOC482182 sulfotransferase 1E1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12088584 LOC482182 sulfotransferase 1E1 gene DOID:9004009 Reperfusion Injury ISO RGD:1351097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25922074 12088584 LOC482182 sulfotransferase 1E1 gene DOID:9004009 Reperfusion Injury ISO RGD:3776 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16908442|REF_RGD_ID:2302564 12088584 LOC482182 sulfotransferase 1E1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12088596 HOXA1 homeobox A1 gene DOID:0050682 Athabaskan brainstem dysgenesis syndrome ISO RGD:737614 D RGD:7240710 20180130 OMIM 12088596 HOXA1 homeobox A1 gene DOID:0050682 Athabaskan brainstem dysgenesis syndrome ISO RGD:737614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome | ClinVar Annotator: match by term: Navajo brainstem syndrome PMID:16155570|PMID:18412118|PMID:25741868|PMID:28492532 12088596 HOXA1 homeobox A1 gene DOID:0060041 autism spectrum disorder no_association ISO RGD:737614 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:218A>G(human) PMID:14681917|REF_RGD_ID:11553826 12088596 HOXA1 homeobox A1 gene DOID:1059 intellectual disability ISO RGD:737614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12088596 HOXA1 homeobox A1 gene DOID:12849 autistic disorder ISO RGD:737614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11091361 12088596 HOXA1 homeobox A1 gene DOID:12849 autistic disorder susceptibility ISO RGD:737614 D RGD:9068941 20200806 RGD DNA:missense mutation:cds:p.H73R (human) PMID:14960295|REF_RGD_ID:1358730 12088596 HOXA1 homeobox A1 gene DOID:1682 congenital heart disease ISO RGD:737614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21940751 12088596 HOXA1 homeobox A1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:737614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12088596 HOXA1 homeobox A1 gene DOID:630 genetic disease ISO RGD:737614 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12088596 HOXA1 homeobox A1 gene DOID:9003270 Microtia-Anotia ISO RGD:13932952 D RGD:9068941 20210604 OMIA Microtia PMID:26035869 12088596 HOXA1 homeobox A1 gene DOID:9003920 Microtia, Hearing Impairment, and Cleft Palate ISO RGD:737614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate 12088596 HOXA1 homeobox A1 gene DOID:9006534 Nervous System Malformations ISO RGD:737614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10529420 12088596 HOXA1 homeobox A1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:737614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10529420 12088608 CFD complement factor D gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:736531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 12088608 CFD complement factor D gene DOID:10320 asbestosis ISO RGD:736531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22832039 12088608 CFD complement factor D gene DOID:1556 arthus reaction ISO RGD:2498 D RGD:9068941 20200609 RGD PMID:10605043|REF_RGD_ID:1624328 12088608 CFD complement factor D gene DOID:289 endometriosis ISO RGD:736531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12088608 CFD complement factor D gene DOID:2921 glomerulonephritis ISO RGD:736531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14675043 12088608 CFD complement factor D gene DOID:3770 pulmonary fibrosis ISO RGD:736531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22832039 12088608 CFD complement factor D gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:736531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 12088608 CFD complement factor D gene DOID:5119 ovarian cyst ISO RGD:736531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12088608 CFD complement factor D gene DOID:5339 cyclic hematopoiesis ISO RGD:736531 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12088608 CFD complement factor D gene DOID:6000 congestive heart failure ISO RGD:736531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 12088608 CFD complement factor D gene DOID:612 primary immunodeficiency disease ISO RGD:736531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11457876|PMID:16527897 12088608 CFD complement factor D gene DOID:630 genetic disease ISO RGD:736531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12088608 CFD complement factor D gene DOID:9001385 Complement Factor D Deficiency ISO RGD:736531 D RGD:7240710 20180130 OMIM 12088608 CFD complement factor D gene DOID:9001385 Complement Factor D Deficiency ISO RGD:736531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complement factor d deficiency PMID:11457876|PMID:25741868 12088608 CFD complement factor D gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12088608 CFD complement factor D gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2498 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:8372111|REF_RGD_ID:1624344 12088608 CFD complement factor D gene DOID:9008366 Meningococcal Infections ISO RGD:736531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16527897 12088608 CFD complement factor D gene DOID:9008538 Neisseriaceae Infections ISO RGD:736531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11457876 12088608 CFD complement factor D gene DOID:9970 obesity ISO RGD:2498 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:adipocyte, serum PMID:2197880|REF_RGD_ID:1624327 12088608 CFD complement factor D gene DOID:9970 obesity ISO RGD:736531 D RGD:9068941 20200609 RGD PMID:14564690|REF_RGD_ID:1624324 12088622 XIRP1 xin actin binding repeat containing 1 gene DOID:10907 microcephaly ISO RGD:1312413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Classical primary microcephaly PMID:25558065|PMID:25741868 12088622 XIRP1 xin actin binding repeat containing 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1312414 D RGD:9068941 20220825 MouseDO 12088622 XIRP1 xin actin binding repeat containing 1 gene DOID:630 genetic disease ISO RGD:1312413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088622 XIRP1 xin actin binding repeat containing 1 gene DOID:9000046 Poisoning ISO RGD:1312413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21964422 12088634 MATN4 matrilin 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1320229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 12088634 MATN4 matrilin 4 gene DOID:2234 focal epilepsy ISO RGD:1320229 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12088634 MATN4 matrilin 4 gene DOID:4621 holoprosencephaly ISO RGD:1320229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:25558065 12088634 MATN4 matrilin 4 gene DOID:630 genetic disease ISO RGD:1320229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088634 MATN4 matrilin 4 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1320229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12088634 MATN4 matrilin 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320229 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12088634 MATN4 matrilin 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1320229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 12088656 CPN2 carboxypeptidase N subunit 2 gene DOID:630 genetic disease ISO RGD:1346122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088662 THBS4 thrombospondin 4 gene DOID:10487 Hirschsprung's disease ISO RGD:735475 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 12088662 THBS4 thrombospondin 4 gene DOID:630 genetic disease ISO RGD:735475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088662 THBS4 thrombospondin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12088687 TAOK2 TAO kinase 2 gene DOID:0060019 coronin-1A deficiency ISO RGD:1351729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12088687 TAOK2 TAO kinase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1351729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12088687 TAOK2 TAO kinase 2 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1351729 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12088687 TAOK2 TAO kinase 2 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1351729 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12088687 TAOK2 TAO kinase 2 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1351729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12088687 TAOK2 TAO kinase 2 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1351729 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12088687 TAOK2 TAO kinase 2 gene DOID:12849 autistic disorder ISO RGD:1351729 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:25741868|PMID:30208311 12088687 TAOK2 TAO kinase 2 gene DOID:1882 atrial heart septal defect ISO RGD:1351729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12088687 TAOK2 TAO kinase 2 gene DOID:5419 schizophrenia ISO RGD:1351729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12088687 TAOK2 TAO kinase 2 gene DOID:630 genetic disease ISO RGD:1351729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12088687 TAOK2 TAO kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1351729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 12088687 TAOK2 TAO kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12088687 TAOK2 TAO kinase 2 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1351729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12088687 TAOK2 TAO kinase 2 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1351729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12088727 NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1319056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 12088727 NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase gene DOID:630 genetic disease ISO RGD:1319056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088727 NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase gene DOID:9004461 Familial Persistent Stuttering 2 ISO RGD:1319056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stuttering, familial persistent, 2 PMID:20147709|PMID:21956109 12088742 NCS1 neuronal calcium sensor 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:68618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12088742 NCS1 neuronal calcium sensor 1 gene DOID:630 genetic disease ISO RGD:68618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088754 MTNR1B melatonin receptor 1B gene DOID:0060041 autism spectrum disorder ISO RGD:736711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20657642 12088754 MTNR1B melatonin receptor 1B gene DOID:1059 intellectual disability ISO RGD:736711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12088754 MTNR1B melatonin receptor 1B gene DOID:11612 polycystic ovary syndrome ISO RGD:736711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20207350 12088754 MTNR1B melatonin receptor 1B gene DOID:2913 acute pancreatitis ISO RGD:620798 D RGD:9068941 20200609 RGD PMID:12510864|REF_RGD_ID:9588676 12088754 MTNR1B melatonin receptor 1B gene DOID:630 genetic disease ISO RGD:736711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088754 MTNR1B melatonin receptor 1B gene DOID:9352 type 2 diabetes mellitus ISO RGD:736711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to PMID:22286214 12088754 MTNR1B melatonin receptor 1B gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:736711 D RGD:7240710 20230505 OMIM 12088761 GPD1 glycerol-3-phosphate dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:733156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12088761 GPD1 glycerol-3-phosphate dehydrogenase 1 gene DOID:9001603 Hypertriglyceridemia, Transient Infantile ISO RGD:733156 D RGD:7240710 20180130 OMIM 12088761 GPD1 glycerol-3-phosphate dehydrogenase 1 gene DOID:9001603 Hypertriglyceridemia, Transient Infantile ISO RGD:733156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia, transient infantile PMID:22226083|PMID:24549054|PMID:25741868|PMID:28492532 12088761 GPD1 glycerol-3-phosphate dehydrogenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12088777 PRSS56 serine protease 56 gene DOID:0060476 Perlman syndrome ISO RGD:5128927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12088777 PRSS56 serine protease 56 gene DOID:0060835 isolated microphthalmia 6 ISO RGD:5128927 D RGD:7240710 20180130 OMIM 12088777 PRSS56 serine protease 56 gene DOID:0060835 isolated microphthalmia 6 ISO RGD:5128927 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 6 PMID:15823920|PMID:17576681|PMID:19526372|PMID:21397065|PMID:21532570|PMID:21670352|PMID:21850159|PMID:22908982|PMID:23127749|PMID:24033266|PMID:24227917|PMID:25587058|PMID:25741868|PMID:28492532|PMID:31266062|PMID:31992737|PMID:32830442|PMID:32996714|PMID:33203948|PMID:9536098 12088777 PRSS56 serine protease 56 gene DOID:0080634 nanophthalmos ISO RGD:5128927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nanophthalmia PMID:19526372|PMID:21397065|PMID:21532570|PMID:21670352|PMID:22908982|PMID:23127749|PMID:24033266|PMID:24227917|PMID:25741868|PMID:28492532|PMID:31266062|PMID:31992737 12088777 PRSS56 serine protease 56 gene DOID:0110991 Joubert syndrome 22 ISO RGD:5128927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12088777 PRSS56 serine protease 56 gene DOID:10629 microphthalmia ISO RGD:5128927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532570 12088777 PRSS56 serine protease 56 gene DOID:11830 myopia ISO RGD:5128927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 12088777 PRSS56 serine protease 56 gene DOID:13550 angle-closure glaucoma ISO RGD:5128927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532570 12088777 PRSS56 serine protease 56 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:5128927 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 12088777 PRSS56 serine protease 56 gene DOID:630 genetic disease ISO RGD:5128927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12088777 PRSS56 serine protease 56 gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:5128927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:19526372|PMID:21532570|PMID:24033266|PMID:28492532 12088801 S100P S100 calcium binding protein P gene DOID:11612 polycystic ovary syndrome ISO RGD:1344746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12088801 S100P S100 calcium binding protein P gene DOID:630 genetic disease ISO RGD:1344746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088801 S100P S100 calcium binding protein P gene DOID:9007364 Mouth Neoplasms ISO RGD:1344746 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31066245 12088807 TSPAN9 tetraspanin 9 gene DOID:630 genetic disease ISO RGD:1602896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088807 TSPAN9 tetraspanin 9 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1602896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:0060465 fibrochondrogenesis ISO RGD:735396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:28492532|PMID:32427345|PMID:32756486 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:0080046 Stickler syndrome ISO RGD:735396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stickler Syndrome, Dominant PMID:10486316|PMID:10573014|PMID:20513134|PMID:25240749|PMID:25741868|PMID:28492532 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:0080672 fibrochondrogenesis 1 ISO RGD:735396 D RGD:7240710 20230505 OMIM 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:0080672 fibrochondrogenesis 1 ISO RGD:735396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 1 PMID:10486316|PMID:16199547|PMID:17236192|PMID:17576681|PMID:17999364|PMID:20513134|PMID:21035103|PMID:23922384|PMID:23967202|PMID:25240749|PMID:25741868|PMID:26377240|PMID:26467025|PMID:28492532|PMID:30245029|PMID:32427345|PMID:32756486|PMID:9536098 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:0080675 Stickler syndrome 2 ISO RGD:735396 D RGD:7240710 20230505 OMIM 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:0080675 Stickler syndrome 2 ISO RGD:735396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stickler syndrome type 2 | ClinVar Annotator: match by term: Stickler syndrome, beaded vitreous type PMID:10486316|PMID:10573014|PMID:10725403|PMID:11668615|PMID:13520885|PMID:16199547|PMID:17236192|PMID:17576681|PMID:17999364|PMID:19449424|PMID:20513134|PMID:21035103|PMID:23922384|PMID:23967202|PMID:25240749|PMID:25326635|PMID:25741868|PMID:26377240|PMID:26467025|PMID:27081549|PMID:27081569|PMID:28492532|PMID:30245029|PMID:30919572|PMID:32427345|PMID:32756486|PMID:8872475|PMID:9129742|PMID:9529347|PMID:9536098|PMID:9792885 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:735396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:25741868 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:0111510 Marshall syndrome ISO RGD:735396 D RGD:7240710 20230505 OMIM 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:0111510 Marshall syndrome ISO RGD:735396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, myopia, cataract, saddle nose-Marshall type | ClinVar Annotator: match by term: Marshall syndrome PMID:10486316|PMID:13520885|PMID:16199547|PMID:17236192|PMID:17576681|PMID:17999364|PMID:19449424|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:25741868|PMID:26377240|PMID:26467025|PMID:28492532|PMID:32427345|PMID:32756486|PMID:32963807|PMID:9129742|PMID:9529347|PMID:9536098|PMID:9792885 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:0111510 Marshall syndrome susceptibility ISO RGD:735396 D RGD:9068941 20230511 RGD DNA:SNP:splice junction: PMID:9529347|REF_RGD_ID:1600881 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:10003 sensorineural hearing loss ISO RGD:735396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:28492532 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:12849 autistic disorder ISO RGD:735396 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:13550 angle-closure glaucoma ISO RGD:735396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22922875|PMID:27064256 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:1826 epilepsy ISO RGD:735396 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:2256 osteochondrodysplasia ISO RGD:735396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19638309 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:5119 ovarian cyst ISO RGD:735396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:630 genetic disease ISO RGD:735396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:13520885|PMID:16199547|PMID:17236192|PMID:19449424|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:32427345|PMID:32756486|PMID:9129742|PMID:9529347|PMID:9792885 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:65 connective tissue disease ISO RGD:735396 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:15922184|PMID:17576681|PMID:17999364|PMID:23967202|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30245029|PMID:30753492|PMID:9536098 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:7693 abdominal aortic aneurysm ISO RGD:735396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm PMID:17182944 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:8398 osteoarthritis ISO RGD:735397 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:9000585 Intervertebral Disc Disease ISO RGD:735396 D RGD:7240710 20230505 OMIM 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:9000585 Intervertebral Disc Disease ISO RGD:735396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intervertebral disc disease | ClinVar Annotator: match by term: Lumbar disc herniation, susceptibility to PMID:16199547|PMID:17576681|PMID:17999364|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:25741868|PMID:26377240|PMID:28492532|PMID:32427345|PMID:32756486|PMID:9536098 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:9002069 Autosomal Dominant Nonsyndromic Deafness 37 ISO RGD:735396 D RGD:7240710 20230505 OMIM 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:9002069 Autosomal Dominant Nonsyndromic Deafness 37 ISO RGD:735396 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 37 PMID:16199547|PMID:17576681|PMID:17999364|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:25741868|PMID:26377240|PMID:28315471|PMID:28492532|PMID:30245514|PMID:30311386|PMID:32427345|PMID:32756486|PMID:33169910|PMID:33605226|PMID:9536098 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:9003133 Hypertelorism ISO RGD:735396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735396 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:16199547|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:25741868|PMID:28492532|PMID:32427345|PMID:32756486 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:9004538 Hearing Loss ISO RGD:735396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386|PMID:33169910 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:9005570 Marshall/Stickler Syndrome ISO RGD:735396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marshall/Stickler syndrome PMID:10486316|PMID:1536174 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:9006041 Osteoarthritis, Hip ISO RGD:735396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:735396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17999364 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19638309 12088835 COL11A1 collagen type XI alpha 1 chain gene DOID:936 brain disease ISO RGD:735396 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4 PMID:25741868|PMID:28492532 12088916 CHMP1B charged multivesicular body protein 1B gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1603626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12088916 CHMP1B charged multivesicular body protein 1B gene DOID:1059 intellectual disability ISO RGD:1603626 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12088916 CHMP1B charged multivesicular body protein 1B gene DOID:543 dystonia ISO RGD:1603626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:23222958|PMID:24405754|PMID:25817843|PMID:27123488|PMID:28492532 12088916 CHMP1B charged multivesicular body protein 1B gene DOID:630 genetic disease ISO RGD:1603626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088921 CCDC168 coiled-coil domain containing 168 gene DOID:0110878 holoprosencephaly 5 ISO RGD:4109693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:28492532 12088921 CCDC168 coiled-coil domain containing 168 gene DOID:14701 propionic acidemia ISO RGD:4109693 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 12088921 CCDC168 coiled-coil domain containing 168 gene DOID:630 genetic disease ISO RGD:4109693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088921 CCDC168 coiled-coil domain containing 168 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:4109693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12088921 CCDC168 coiled-coil domain containing 168 gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:4109693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 12088929 MKS1 MKS transition zone complex subunit 1 gene DOID:0050651 atrioventricular septal defect ISO RGD:1614795 D RGD:9068941 20220825 MouseDO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 12088929 MKS1 MKS transition zone complex subunit 1 gene DOID:0050777 Joubert syndrome ISO RGD:1352123 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30076350|PMID:30718709|PMID:31191208|PMID:31456290|PMID:33584783|PMID:34008892|PMID:9536098 12088929 MKS1 MKS transition zone complex subunit 1 gene DOID:0050777 Joubert syndrome ISO RGD:1352123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23169490|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30076350|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34359301|PMID:34582790|PMID:9536098 12088929 MKS1 MKS transition zone complex subunit 1 gene DOID:0050778 Meckel syndrome ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:18414213|PMID:19466712|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:28492532|PMID:28497568|PMID:30902645|PMID:34008892|PMID:9536098 12088929 MKS1 MKS transition zone complex subunit 1 gene DOID:0050952 spastic ataxia ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 12088929 MKS1 MKS transition zone complex subunit 1 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1352123 D RGD:7240710 20180130 OMIM 12088929 MKS1 MKS transition zone complex subunit 1 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1352123 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21258341|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30076350|PMID:30718709|PMID:31191208|PMID:33584783|PMID:34008892|PMID:9536098 12088929 MKS1 MKS transition zone complex subunit 1 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:23169490|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30076350|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:33584783|PMID:34008892|PMID:34359301|PMID:34582790|PMID:9536098 12088929 MKS1 MKS transition zone complex subunit 1 gene DOID:0080322 polycystic kidney disease ISO RGD:1352123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:25741868 12088929 MKS1 MKS transition zone complex subunit 1 gene DOID:0110135 Bardet-Biedl syndrome 13 ISO RGD:1352123 D RGD:7240710 20180130 OMIM 12088929 MKS1 MKS transition zone complex subunit 1 gene DOID:0110135 Bardet-Biedl syndrome 13 ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 13 PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:28981474|PMID:30076350|PMID:30718709|PMID:31456290|PMID:33584783|PMID:34008892|PMID:34359301|PMID:34582790|PMID:9536098 12088929 MKS1 MKS transition zone complex subunit 1 gene DOID:0110329 Leber congenital amaurosis 6 ISO RGD:1352123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 6 PMID:17397051|PMID:17576681|PMID:25741868|PMID:28492532|PMID:31191208|PMID:9536098 12088929 MKS1 MKS transition zone complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1352123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30076350|PMID:30718709|PMID:31191208|PMID:33584783|PMID:34008892|PMID:9536098 12088929 MKS1 MKS transition zone complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1352123 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:17185389|PMID:17397051|PMID:19466712|PMID:23351400|PMID:24886560|PMID:25741868|PMID:26490104|PMID:28492532|PMID:34008892 12088929 MKS1 MKS transition zone complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23169490|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30076350|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34359301|PMID:34582790|PMID:9536098 12088929 MKS1 MKS transition zone complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1352123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:17185389|PMID:17397051|PMID:19466712|PMID:23351400|PMID:24886560|PMID:25741868|PMID:26490104|PMID:28492532|PMID:30902645|PMID:34008892 12088929 MKS1 MKS transition zone complex subunit 1 gene DOID:0110997 Joubert Syndrome 28 ISO RGD:1352123 D RGD:7240710 20190315 OMIM 12088929 MKS1 MKS transition zone complex subunit 1 gene DOID:0110997 Joubert Syndrome 28 ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 28 PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19466712|PMID:20301500|PMID:23351400|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27377014|PMID:27570071|PMID:28492532|PMID:28497568|PMID:30902645|PMID:31456290|PMID:34008892|PMID:9536098 12088929 MKS1 MKS transition zone complex subunit 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1352123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:30718709 12088929 MKS1 MKS transition zone complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:1352123 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12088929 MKS1 MKS transition zone complex subunit 1 gene DOID:10907 microcephaly ISO RGD:1352123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24608809|PMID:25741868|PMID:28492532|PMID:30076350|PMID:33584783 12088929 MKS1 MKS transition zone complex subunit 1 gene DOID:1148 polydactyly ISO RGD:1352123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:18327255|PMID:20301500|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27570071|PMID:28492532|PMID:28497568|PMID:34008892 12088929 MKS1 MKS transition zone complex subunit 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352123 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:18327255|PMID:25741868|PMID:28492532|PMID:31456290 12088929 MKS1 MKS transition zone complex subunit 1 gene DOID:574 peripheral nervous system disease ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 12088929 MKS1 MKS transition zone complex subunit 1 gene DOID:630 genetic disease ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:28771248|PMID:34582790|PMID:9536098 12088929 MKS1 MKS transition zone complex subunit 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1614795 D RGD:9068941 20220825 MouseDO OMIM:187500 12088929 MKS1 MKS transition zone complex subunit 1 gene DOID:870 neuropathy ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 12088973 LOC102153034 calmodulin-like protein 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1313562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12088973 LOC102153034 calmodulin-like protein 3 gene DOID:5419 schizophrenia ISO RGD:1313562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12088973 LOC102153034 calmodulin-like protein 3 gene DOID:630 genetic disease ISO RGD:1313562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12088973 LOC102153034 calmodulin-like protein 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1313562 D RGD:9068941 20220318 RGD protein:decreased expression:liver (human) PMID:29445139|REF_RGD_ID:151665319 12088973 LOC102153034 calmodulin-like protein 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313562 D RGD:9068941 20220318 RGD associated with hepatocellular carcinoma; protein:decreased expression:liver (human) PMID:29445139|REF_RGD_ID:151665319 12088973 LOC102153034 calmodulin-like protein 3 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1313562 D RGD:9068941 20220318 RGD associated with hepatocellular carcinoma; human cells in mouse model PMID:29445139|REF_RGD_ID:151665319 12088973 LOC102153034 calmodulin-like protein 3 gene DOID:9005172 Lung Neoplasms ISO RGD:1313562 D RGD:9068941 20211217 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12089015 DUSP23 dual specificity phosphatase 23 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1319412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12089015 DUSP23 dual specificity phosphatase 23 gene DOID:1540 parathyroid carcinoma ISO RGD:1319412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12089015 DUSP23 dual specificity phosphatase 23 gene DOID:630 genetic disease ISO RGD:1319412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12089015 DUSP23 dual specificity phosphatase 23 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12089020 LOC106558887 60S ribosomal protein L23a gene DOID:14330 Parkinson's disease ISO RGD:1312599 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:18353766 12089020 LOC106558887 60S ribosomal protein L23a gene DOID:630 genetic disease ISO RGD:1312599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12089020 LOC106558887 60S ribosomal protein L23a gene DOID:9008939 Breast Neoplasms ISO RGD:1312599 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12089025 TRIM2 tripartite motif containing 2 gene DOID:0110161 Charcot-Marie-Tooth disease type 2R ISO RGD:1322189 D RGD:7240710 20210113 OMIM 12089025 TRIM2 tripartite motif containing 2 gene DOID:0110161 Charcot-Marie-Tooth disease type 2R ISO RGD:1322189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2R PMID:16199547|PMID:17576681|PMID:23562820|PMID:23806086|PMID:24088041|PMID:25741868|PMID:25893792|PMID:26257172|PMID:28492532|PMID:9536098 12089025 TRIM2 tripartite motif containing 2 gene DOID:630 genetic disease ISO RGD:1322189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12089025 TRIM2 tripartite motif containing 2 gene DOID:7319 axonal neuropathy ISO RGD:1322189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy 12089025 TRIM2 tripartite motif containing 2 gene DOID:8398 osteoarthritis ISO RGD:1322189 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 12089048 GLRB glycine receptor beta gene DOID:0060695 hyperekplexia ISO RGD:731361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperekplexia 12089048 GLRB glycine receptor beta gene DOID:0060697 hyperekplexia 2 ISO RGD:731361 D RGD:7240710 20180130 OMIM 12089048 GLRB glycine receptor beta gene DOID:0060697 hyperekplexia 2 ISO RGD:731361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyperekplexia 2 PMID:11929858|PMID:16199547|PMID:17576681|PMID:21391991|PMID:22532536|PMID:23182654|PMID:23184146|PMID:25640679|PMID:25741868|PMID:28492532|PMID:32911248|PMID:33323420|PMID:9536098 12089048 GLRB glycine receptor beta gene DOID:13366 Stiff-Person syndrome ISO RGD:731361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12089048 GLRB glycine receptor beta gene DOID:630 genetic disease ISO RGD:731361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23184146|PMID:28492532 12089064 MBNL1 muscleblind like splicing regulator 1 gene DOID:450 myotonic disease ISO RGD:1552938 D RGD:9068941 20220825 MouseDO 12089064 MBNL1 muscleblind like splicing regulator 1 gene DOID:5419 schizophrenia ISO RGD:1606580 D RGD:9068941 20200609 RGD mRNA:increased expression:Brodmann (1909) area 46 PMID:17464717|REF_RGD_ID:10041058 12089064 MBNL1 muscleblind like splicing regulator 1 gene DOID:630 genetic disease ISO RGD:1606580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12089064 MBNL1 muscleblind like splicing regulator 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1606580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12089064 MBNL1 muscleblind like splicing regulator 1 gene DOID:9008993 Myotonia ISO RGD:1606580 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24039817 12089106 CASP2 caspase 2 gene DOID:1059 intellectual disability ISO RGD:1604850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12089106 CASP2 caspase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1604850 D RGD:9068941 20200609 RGD PMID:12633148|REF_RGD_ID:13782269 12089106 CASP2 caspase 2 gene DOID:1824 status epilepticus disease_progression ISO RGD:69274 D RGD:9068941 20200609 RGD PMID:17627033|REF_RGD_ID:4107076 12089106 CASP2 caspase 2 gene DOID:3328 temporal lobe epilepsy disease_progression ISO RGD:1604850 D RGD:9068941 20200609 RGD PMID:17627033|REF_RGD_ID:4107076 12089106 CASP2 caspase 2 gene DOID:4450 renal cell carcinoma ISO RGD:1604850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20208132 12089106 CASP2 caspase 2 gene DOID:630 genetic disease ISO RGD:1604850 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12089106 CASP2 caspase 2 gene DOID:9007096 Stroke ISO RGD:69274 D RGD:9068941 20200609 RGD PMID:12067235|REF_RGD_ID:4107080 12089162 GRAMD2B GRAM domain containing 2B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604604 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12089162 GRAMD2B GRAM domain containing 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12089162 GRAMD2B GRAM domain containing 2B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604604 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12089187 CEP89 centrosomal protein 89 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12089187 CEP89 centrosomal protein 89 gene DOID:630 genetic disease ISO RGD:1605924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12089187 CEP89 centrosomal protein 89 gene DOID:9266 cystinuria ISO RGD:1605924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystinuria PMID:21681106 12089218 ROMO1 reactive oxygen species modulator 1 gene DOID:5199 ureteral obstruction ISO RGD:1587111 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney PMID:28791399|REF_RGD_ID:13463462 12089218 ROMO1 reactive oxygen species modulator 1 gene DOID:630 genetic disease ISO RGD:1349152 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12089225 NUDT21 nudix hydrolase 21 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1313996 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12089225 NUDT21 nudix hydrolase 21 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1313996 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12089225 NUDT21 nudix hydrolase 21 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313996 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12089225 NUDT21 nudix hydrolase 21 gene DOID:3910 lung adenocarcinoma ISO RGD:1313996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12089225 NUDT21 nudix hydrolase 21 gene DOID:630 genetic disease ISO RGD:1313996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12089225 NUDT21 nudix hydrolase 21 gene DOID:9006205 Animal Disease Models ISO RGD:1313996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12089236 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:0080000 muscular disease ISO RGD:1322904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 12089236 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:0081268 pulmonary venoocclusive disease 1 ISO RGD:1322904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1, autosomal dominant PMID:24033266 12089236 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:0081269 pulmonary venoocclusive disease 2 ISO RGD:1322904 D RGD:7240710 20180130 OMIM 12089236 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:0081269 pulmonary venoocclusive disease 2 ISO RGD:1322904 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis PMID:12215525|PMID:24033266|PMID:24135949|PMID:24292273|PMID:24310610|PMID:25512148|PMID:25741868|PMID:26387786|PMID:27684876|PMID:28492532|PMID:28972005|PMID:29743074|PMID:30285736|PMID:31711431|PMID:32581362 12089236 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:2717 Bloom syndrome ISO RGD:1322904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12089236 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:2914 immune system disease ISO RGD:1322904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 12089236 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:421 hair disease ISO RGD:1322904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 12089236 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:1322904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24292273 12089236 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:1322904 D RGD:9068941 20200903 RGD protein:decreased expression:lung PMID:32209028|REF_RGD_ID:38549370 12089236 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:5453 pulmonary venoocclusive disease disease_progression ISO RGD:1311439 D RGD:9068941 20200903 RGD PMID:32209028|REF_RGD_ID:38549370 12089236 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:630 genetic disease ISO RGD:1322904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12089236 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:6432 pulmonary hypertension ISO RGD:1322904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24292273 12089236 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1322904 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868|PMID:28492532|PMID:32581362 12089236 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:9252 amino acid metabolic disorder ISO RGD:1322904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 12089236 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:9256 colorectal cancer ISO RGD:1322904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12089291 NRIP1 nuclear receptor interacting protein 1 gene DOID:0080205 CAKUT ISO RGD:1323522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:28381549|PMID:30143558 12089291 NRIP1 nuclear receptor interacting protein 1 gene DOID:0080600 COVID-19 ISO RGD:1323522 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12089291 NRIP1 nuclear receptor interacting protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:1323522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 12089291 NRIP1 nuclear receptor interacting protein 1 gene DOID:11476 osteoporosis ISO RGD:1323522 D RGD:9068941 20200609 RGD DNA:silent mutation, haplotype:p.G75G (human) PMID:16530497|REF_RGD_ID:10045825 12089291 NRIP1 nuclear receptor interacting protein 1 gene DOID:2843 long QT syndrome ISO RGD:1323522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12089291 NRIP1 nuclear receptor interacting protein 1 gene DOID:5419 schizophrenia ISO RGD:1323522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 12089291 NRIP1 nuclear receptor interacting protein 1 gene DOID:5844 myocardial infarction ISO RGD:1323522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22503866 12089291 NRIP1 nuclear receptor interacting protein 1 gene DOID:6000 congestive heart failure ISO RGD:1323522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22503866 12089291 NRIP1 nuclear receptor interacting protein 1 gene DOID:630 genetic disease ISO RGD:1323522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12089291 NRIP1 nuclear receptor interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12089291 NRIP1 nuclear receptor interacting protein 1 gene DOID:9004914 Postmenopausal Osteoporosis susceptibility ISO RGD:1323522 D RGD:9068941 20200609 RGD DNA:silent mutation:cds:p.G75G (human) PMID:22335445|REF_RGD_ID:10045849 12089291 NRIP1 nuclear receptor interacting protein 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1323522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27348297 12089291 NRIP1 nuclear receptor interacting protein 1 gene DOID:9008581 CAKUT3 ISO RGD:1323522 D RGD:7240710 20190315 OMIM 12089291 NRIP1 nuclear receptor interacting protein 1 gene DOID:9008581 CAKUT3 ISO RGD:1323522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 3 PMID:25741868|PMID:28381549|PMID:28492532|PMID:30143558 12089291 NRIP1 nuclear receptor interacting protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1323522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22267197 12089312 CFAP44 cilia and flagella associated protein 44 gene DOID:0070166 spermatogenic failure 20 ISO RGD:1343890 D RGD:7240710 20190315 OMIM 12089312 CFAP44 cilia and flagella associated protein 44 gene DOID:0070166 spermatogenic failure 20 ISO RGD:1343890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 20 PMID:25741868|PMID:28552195|PMID:29277146|PMID:29449551 12089312 CFAP44 cilia and flagella associated protein 44 gene DOID:630 genetic disease ISO RGD:1343890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12089351 CDC73 cell division cycle 73 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1323393 D RGD:9068941 20211224 RGD mRNA:altered expression: tongue, oral cavity (human) PMID:24257751|REF_RGD_ID:150537040 12089351 CDC73 cell division cycle 73 gene DOID:10534 stomach cancer ameliorates ISO RGD:1323393 D RGD:9068941 20211231 RGD mRNA:increased expression:mucosa of stomach (human) PMID:29221126|REF_RGD_ID:150539444 12089351 CDC73 cell division cycle 73 gene DOID:1324 lung cancer exacerbates ISO RGD:1323393 D RGD:9068941 20211231 RGD mRNA:increased expression:lung (human) PMID:29221126|REF_RGD_ID:150539444 12089351 CDC73 cell division cycle 73 gene DOID:13543 hyperparathyroidism ISO RGD:1323393 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism PMID:20301744|PMID:25741868 12089351 CDC73 cell division cycle 73 gene DOID:1540 parathyroid carcinoma ISO RGD:1323393 D RGD:7240710 20190315 OMIM 12089351 CDC73 cell division cycle 73 gene DOID:1540 parathyroid carcinoma ISO RGD:1323393 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:12434154|PMID:12960210|PMID:14585940|PMID:14715834|PMID:14985403|PMID:15070940|PMID:15531515|PMID:15580289|PMID:15613436|PMID:15632063|PMID:16061557|PMID:16199547|PMID:16487440|PMID:16728578|PMID:17065424|PMID:17314275|PMID:17468190|PMID:17576681|PMID:18755853|PMID:19017757|PMID:19332451|PMID:20052758|PMID:20301744|PMID:20304979|PMID:20979880|PMID:21360064|PMID:21652691|PMID:21732217|PMID:22187299|PMID:22703879|PMID:22987117|PMID:23029104|PMID:2329331|PMID:23293331|PMID:23757631|PMID:24340015|PMID:24716902|PMID:24728327|PMID:24823466|PMID:25388829|PMID:25444225|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25959515|PMID:26121439|PMID:26580448|PMID:26650250|PMID:27679651|PMID:28394026|PMID:28492532|PMID:28833384|PMID:28870973|PMID:28881068|PMID:29040582|PMID:29142233|PMID:29225260|PMID:29324469|PMID:29641532|PMID:29755684|PMID:30262796|PMID:30885698|PMID:32590342|PMID:33332384|PMID:9536098 12089351 CDC73 cell division cycle 73 gene DOID:1540 parathyroid carcinoma disease_progression ISO RGD:1323393 D RGD:9068941 20211231 RGD protein:decreased expression:parathyroid gland (human) PMID:27490759|REF_RGD_ID:150539446 12089351 CDC73 cell division cycle 73 gene DOID:1612 breast cancer exacerbates ISO RGD:1323393 D RGD:9068941 20211231 RGD mRNA:increased expression:breast (human) PMID:29221126|REF_RGD_ID:150539444 12089351 CDC73 cell division cycle 73 gene DOID:180 ossifying fibroma ISO RGD:1323393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ossifying fibroma of the jaw PMID:27658992 12089351 CDC73 cell division cycle 73 gene DOID:2394 ovarian cancer ISO RGD:1323393 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:22703879|PMID:25741868|PMID:28492532|PMID:30262796 12089351 CDC73 cell division cycle 73 gene DOID:2394 ovarian cancer severity ISO RGD:1323393 D RGD:9068941 20211231 RGD mRNA:increased expression:ovary (human) PMID:29221126|REF_RGD_ID:150539444 12089351 CDC73 cell division cycle 73 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:1323393 D RGD:9068941 20211231 RGD protein:decreased expression:larynx (human) PMID:27334641|REF_RGD_ID:150539447 12089351 CDC73 cell division cycle 73 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:1323393 D RGD:9068941 20211231 RGD protein:decreased expression:stomach (human) PMID:18080135|REF_RGD_ID:150539445 12089351 CDC73 cell division cycle 73 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1323393 D RGD:9068941 20211224 RGD mRNA:decreased expression:lung (human) PMID:21692036|REF_RGD_ID:150537041 12089351 CDC73 cell division cycle 73 gene DOID:5520 head and neck squamous cell carcinoma exacerbates ISO RGD:1323393 D RGD:9068941 20211224 RGD protein:increased expression:squamous epithelium (human) PMID:26124004|REF_RGD_ID:11065919 12089351 CDC73 cell division cycle 73 gene DOID:630 genetic disease ISO RGD:1323393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12434154 12089351 CDC73 cell division cycle 73 gene DOID:7608 parathyroid adenoma ISO RGD:1323393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parathyroid adenoma, somatic PMID:12434154|PMID:15531515|PMID:16061557|PMID:16199547|PMID:25741868|PMID:28492532 12089351 CDC73 cell division cycle 73 gene DOID:9002327 Hyperparathyroidism 2 ISO RGD:1323393 D RGD:7240710 20190315 OMIM 12089351 CDC73 cell division cycle 73 gene DOID:9002327 Hyperparathyroidism 2 ISO RGD:1323393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors PMID:12434154|PMID:12960210|PMID:14585940|PMID:14715834|PMID:15070940|PMID:15613436|PMID:17065424|PMID:20052758|PMID:20301744|PMID:25637381|PMID:25741868|PMID:28492532|PMID:29641532 12089351 CDC73 cell division cycle 73 gene DOID:9004331 Parathyroid Neoplasms ISO RGD:1323393 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12089351 CDC73 cell division cycle 73 gene DOID:9006156 Familial Cystic Parathyroid Adenomatosis ISO RGD:1323393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystic parathyroid adenoma PMID:12434154 12089351 CDC73 cell division cycle 73 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1323393 D RGD:7240710 20190315 OMIM 12089351 CDC73 cell division cycle 73 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1323393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY | ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:12434154|PMID:12960210|PMID:14585940|PMID:14715834|PMID:14985403|PMID:15531515|PMID:15580289|PMID:15632063|PMID:16061557|PMID:16199547|PMID:17065424|PMID:17576681|PMID:19017757|PMID:20052758|PMID:20301744|PMID:20979880|PMID:21681106|PMID:22187299|PMID:22703879|PMID:23029104|PMID:23293331|PMID:24716902|PMID:25444225|PMID:25637381|PMID:25741868|PMID:25959515|PMID:28492532|PMID:28774260|PMID:28833384|PMID:28881068|PMID:29641532|PMID:30262796|PMID:9536098 12089351 CDC73 cell division cycle 73 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12960210|PMID:14985403|PMID:17065424|PMID:19332451|PMID:20052758|PMID:25741868|PMID:28166811|PMID:28492532 12089351 CDC73 cell division cycle 73 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12434154|PMID:12960210|PMID:14585940|PMID:14985403|PMID:15531515|PMID:16061557|PMID:16199547|PMID:16487440|PMID:16728578|PMID:17065424|PMID:17468190|PMID:17576681|PMID:19332451|PMID:20052758|PMID:20979880|PMID:22703879|PMID:22987117|PMID:23029104|PMID:23293331|PMID:24716902|PMID:24728327|PMID:25444225|PMID:25741868|PMID:26121439|PMID:26580448|PMID:27679651|PMID:28492532|PMID:28833384|PMID:28870973|PMID:28881068|PMID:29040582|PMID:29225260|PMID:29324469|PMID:29641532|PMID:30262796|PMID:32590342|PMID:33332384|PMID:9536098 12089351 CDC73 cell division cycle 73 gene DOID:9007696 Parathyroid Cancer ISO RGD:1323393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid cancer PMID:25741868|PMID:28492532 12089351 CDC73 cell division cycle 73 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1323393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:12434154|PMID:22187299|PMID:23293331|PMID:25741868|PMID:25959515|PMID:28492532 12089351 CDC73 cell division cycle 73 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12089351 CDC73 cell division cycle 73 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1323393 D RGD:9068941 20211231 RGD mRNA:increased expression:colorectum (human) PMID:21315421|REF_RGD_ID:150539448 12089370 ACTN2 actinin alpha 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1317671 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:25224718|PMID:25741868|PMID:28492532|PMID:31956495 12089370 ACTN2 actinin alpha 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:14567970|PMID:17097056|PMID:17576681|PMID:20022194|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26084686|PMID:26498160|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27896284|PMID:28301460|PMID:28492532|PMID:28771489|PMID:28798025|PMID:28878402|PMID:28986455|PMID:29247119|PMID:30086531|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31506931|PMID:31983221|PMID:32527005|PMID:32880476|PMID:9536098 12089370 ACTN2 actinin alpha 2 gene DOID:0060036 intrinsic cardiomyopathy ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intrinsic cardiomyopathy PMID:20474083|PMID:25741868|PMID:31333075|PMID:32973354 12089370 ACTN2 actinin alpha 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:28492532 12089370 ACTN2 actinin alpha 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 12089370 ACTN2 actinin alpha 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1317671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32746448|PMID:32931854|PMID:34935411|PMID:35656879|PMID:9536098 12089370 ACTN2 actinin alpha 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:14567970|PMID:17097056|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27896284|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28790153|PMID:28798025|PMID:29247119|PMID:30615648|PMID:30775854|PMID:31110529|PMID:31333075|PMID:31568572 12089370 ACTN2 actinin alpha 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317671 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:14567970|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27707468|PMID:27896284|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:9536098 12089370 ACTN2 actinin alpha 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32931854|PMID:35656879|PMID:9536098 12089370 ACTN2 actinin alpha 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317671 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27854218|PMID:27896284|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32931854|PMID:35656879|PMID:9536098 12089370 ACTN2 actinin alpha 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32746448|PMID:32931854|PMID:34935411|PMID:35656879|PMID:9536098 12089370 ACTN2 actinin alpha 2 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868 12089370 ACTN2 actinin alpha 2 gene DOID:0110428 dilated cardiomyopathy 1AA ISO RGD:1317671 D RGD:7240710 20180130 OMIM 12089370 ACTN2 actinin alpha 2 gene DOID:0110428 dilated cardiomyopathy 1AA ISO RGD:1317671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction | ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24274751|PMID:24503780|PMID:25173926|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26084686|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27114410|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28123168|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28878402|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29447731|PMID:29875424|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31680489|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32746448|PMID:32880476|PMID:32931854|PMID:33500567|PMID:34540771|PMID:34802252|PMID:35656879|PMID:9536098 12089370 ACTN2 actinin alpha 2 gene DOID:0110428 dilated cardiomyopathy 1AA ISO RGD:1317671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction | ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24274751|PMID:24503780|PMID:25173926|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25640679|PMID:25741868|PMID:26084686|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27114410|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28123168|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28878402|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29447731|PMID:29875424|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31680489|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32746448|PMID:32880476|PMID:32931854|PMID:33500567|PMID:34540771|PMID:34802252|PMID:34935411|PMID:35656879|PMID:9536098 12089370 ACTN2 actinin alpha 2 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:28492532 12089370 ACTN2 actinin alpha 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17097056|PMID:20022194|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:25224718|PMID:25741868|PMID:26084686|PMID:26498160|PMID:26899768|PMID:27287556|PMID:27532257|PMID:28492532|PMID:30959811|PMID:31513939|PMID:32880476|PMID:32931854|PMID:35656879 12089370 ACTN2 actinin alpha 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:14567970|PMID:17097056|PMID:20022194|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25224718|PMID:25741868|PMID:26899768|PMID:27287556|PMID:27896284|PMID:28492532|PMID:32931854|PMID:35656879 12089370 ACTN2 actinin alpha 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12089370 ACTN2 actinin alpha 2 gene DOID:2843 long QT syndrome ISO RGD:1317671 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:27532257|PMID:28492532|PMID:29247119 12089370 ACTN2 actinin alpha 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 12089370 ACTN2 actinin alpha 2 gene DOID:6000 congestive heart failure ISO RGD:1317671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868|PMID:28492532 12089370 ACTN2 actinin alpha 2 gene DOID:630 genetic disease ISO RGD:1317671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17097056|PMID:20022194|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:25741868|PMID:26084686|PMID:28492532|PMID:32880476 12089370 ACTN2 actinin alpha 2 gene DOID:6419 tetralogy of Fallot ISO RGD:1317671 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:20022194|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532|PMID:28771489|PMID:32527005 12089370 ACTN2 actinin alpha 2 gene DOID:893 Wilson disease ISO RGD:1317671 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:24082139|PMID:25326637|PMID:25741868|PMID:28492532 12089370 ACTN2 actinin alpha 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation 12089370 ACTN2 actinin alpha 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1317671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:29447731|PMID:31110529|PMID:31333075|PMID:31568572|PMID:31737537|PMID:33500567|PMID:34540771 12089370 ACTN2 actinin alpha 2 gene DOID:9000727 Syncope ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syncope PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:26899768|PMID:28492532|PMID:30959811 12089370 ACTN2 actinin alpha 2 gene DOID:9004033 Distal Myopathy 6 ISO RGD:1317671 D RGD:7240710 20191127 OMIM 12089370 ACTN2 actinin alpha 2 gene DOID:9004033 Distal Myopathy 6 ISO RGD:1317671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant PMID:14567970|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27896284|PMID:27930701|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29247119|PMID:29386531|PMID:30847666|PMID:30900782|PMID:31110529|PMID:31333075|PMID:31568572|PMID:31737537|PMID:32527005|PMID:32746448|PMID:34935411|PMID:9536098 12089370 ACTN2 actinin alpha 2 gene DOID:9004417 Congenital Myopathy 8 ISO RGD:1317671 D RGD:7240710 20200115 OMIM 12089370 ACTN2 actinin alpha 2 gene DOID:9004417 Congenital Myopathy 8 ISO RGD:1317671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 8 | ClinVar Annotator: match by term: MULTIPLE STRUCTURED CORE DISEASE | ClinVar Annotator: match by term: Myopathy, congenital, with structured cores and z-line abnormalities PMID:14567970|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26688388|PMID:26899768|PMID:27896284|PMID:27930701|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29247119|PMID:29386531|PMID:30701273|PMID:30847666|PMID:31110529|PMID:31333075|PMID:31568572|PMID:31737537|PMID:32527005|PMID:32746448|PMID:34935411|PMID:9536098 12089370 ACTN2 actinin alpha 2 gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:25741868|PMID:28492532 12089370 ACTN2 actinin alpha 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12089397 AIFM2 apoptosis inducing factor mitochondria associated 2 gene DOID:630 genetic disease ISO RGD:1312709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12089434 PLD2 phospholipase D2 gene DOID:11832 visual epilepsy ISO RGD:3350 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:15330336|REF_RGD_ID:2299910 12089434 PLD2 phospholipase D2 gene DOID:4450 renal cell carcinoma ISO RGD:733873 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:11185526|REF_RGD_ID:2299898 12089434 PLD2 phospholipase D2 gene DOID:6000 congestive heart failure ISO RGD:3350 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:15601581|REF_RGD_ID:2299908 12089434 PLD2 phospholipase D2 gene DOID:630 genetic disease ISO RGD:733873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12089434 PLD2 phospholipase D2 gene DOID:9001499 Orthomyxoviridae Infections ISO RGD:733873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25065577 12089434 PLD2 phospholipase D2 gene DOID:9003936 Cardiomegaly ISO RGD:733873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15988127 12089434 PLD2 phospholipase D2 gene DOID:9004009 Reperfusion Injury ISO RGD:3350 D RGD:9068941 20200609 RGD mRNA:decreased expression:brainstem, cerebellum PMID:17024567|REF_RGD_ID:2299902 12089434 PLD2 phospholipase D2 gene DOID:9004009 Reperfusion Injury ISO RGD:3350 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus CA1, hippocampus granule cell layer PMID:17393174|REF_RGD_ID:2299901 12089434 PLD2 phospholipase D2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3350 D RGD:9068941 20200609 RGD protein:altered activity:sarcolemma, sarcoplasmic reticulum, heart left ventricle PMID:15752718|REF_RGD_ID:2299906 12089460 ABCA5 ATP binding cassette subfamily A member 5 gene DOID:630 genetic disease ISO RGD:1300038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24831815 12089460 ABCA5 ATP binding cassette subfamily A member 5 gene DOID:9006967 Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia ISO RGD:1300038 D RGD:7240710 20190315 OMIM 12089460 ABCA5 ATP binding cassette subfamily A member 5 gene DOID:9006967 Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia ISO RGD:1300038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis PMID:24831815|PMID:25741868 12089460 ABCA5 ATP binding cassette subfamily A member 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1300038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12089513 UNC5D unc-5 netrin receptor D gene DOID:630 genetic disease ISO RGD:1319479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12089536 NCKIPSD NCK interacting protein with SH3 domain gene DOID:630 genetic disease ISO RGD:1322714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12089536 NCKIPSD NCK interacting protein with SH3 domain gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1322714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12089536 NCKIPSD NCK interacting protein with SH3 domain gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1322714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12089550 OR7A55 olfactory receptor family 7 subfamily A member 55 gene DOID:630 genetic disease ISO RGD:1604685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12089554 CMTM8 CKLF like MARVEL transmembrane domain containing 8 gene DOID:630 genetic disease ISO RGD:1351246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12089562 ZNF217 zinc finger protein 217 gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1318226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 12089562 ZNF217 zinc finger protein 217 gene DOID:13938 amenorrhea ISO RGD:1318226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12089562 ZNF217 zinc finger protein 217 gene DOID:630 genetic disease ISO RGD:1318226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12089570 RGS2 regulator of G protein signaling 2 gene DOID:0050851 glomerulosclerosis susceptibility ISO RGD:621665 D RGD:9068941 20200609 RGD associated with Hypertension PMID:26606876|REF_RGD_ID:13524570 12089570 RGS2 regulator of G protein signaling 2 gene DOID:10763 hypertension ISO RGD:621665 D RGD:9068941 20200609 RGD PMID:17986358|REF_RGD_ID:2289116 12089570 RGS2 regulator of G protein signaling 2 gene DOID:10763 hypertension ISO RGD:732360 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1798635 12089570 RGS2 regulator of G protein signaling 2 gene DOID:10763 hypertension ISO RGD:732361 D RGD:9068941 20200609 RGD PMID:14608379|REF_RGD_ID:13524579 12089570 RGS2 regulator of G protein signaling 2 gene DOID:11206 opioid abuse ISO RGD:621665 D RGD:9068941 20200609 RGD PMID:19664213|REF_RGD_ID:13524573 12089570 RGS2 regulator of G protein signaling 2 gene DOID:13548 secondary Parkinson disease ISO RGD:732360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18347610 12089570 RGS2 regulator of G protein signaling 2 gene DOID:1540 parathyroid carcinoma ISO RGD:732360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12089570 RGS2 regulator of G protein signaling 2 gene DOID:365 bladder disease treatment ISO RGD:621665 D RGD:9068941 20200609 RGD associated with hypertension PMID:19689474|REF_RGD_ID:9684972 12089570 RGS2 regulator of G protein signaling 2 gene DOID:5082 liver cirrhosis ISO RGD:621665 D RGD:9068941 20200609 RGD PMID:19003918|REF_RGD_ID:10449440 12089570 RGS2 regulator of G protein signaling 2 gene DOID:630 genetic disease ISO RGD:732360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12089570 RGS2 regulator of G protein signaling 2 gene DOID:724 female stress incontinence ISO RGD:621665 D RGD:9068941 20200609 RGD PMID:18372098|REF_RGD_ID:13524574 12089570 RGS2 regulator of G protein signaling 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:732360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12089570 RGS2 regulator of G protein signaling 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12089570 RGS2 regulator of G protein signaling 2 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:732360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 12089570 RGS2 regulator of G protein signaling 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 12089570 RGS2 regulator of G protein signaling 2 gene DOID:9119 acute myeloid leukemia ISO RGD:732360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12089570 RGS2 regulator of G protein signaling 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12089579 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1354110 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12089579 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1354110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12089579 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:0080690 RASopathy ISO RGD:1354110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12089579 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1354110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12089579 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:0110651 long QT syndrome 10 ISO RGD:1354110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12089579 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1354110 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12089579 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1354110 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12089579 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1354110 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12089579 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1354110 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12089579 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1354110 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868 12089579 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:3070 high grade glioma ISO RGD:1354110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578367 12089579 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:630 genetic disease ISO RGD:1354110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12089579 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1354110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12089579 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:9007661 Dwarfism ISO RGD:1354110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12089644 ARMC5 armadillo repeat containing 5 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1315235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12089644 ARMC5 armadillo repeat containing 5 gene DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 ISO RGD:1315235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12089644 ARMC5 armadillo repeat containing 5 gene DOID:0111624 ACTH-independent macronodular adrenal hyperplasia 2 ISO RGD:1315235 D RGD:7240710 20180130 OMIM 12089644 ARMC5 armadillo repeat containing 5 gene DOID:0111624 ACTH-independent macronodular adrenal hyperplasia 2 ISO RGD:1315235 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ACTH-independent macronodular adrenal hyperplasia 2 PMID:24283224|PMID:24601692|PMID:24708098|PMID:24905064|PMID:25741868|PMID:27094308|PMID:28492532|PMID:32117062|PMID:35368666|PMID:36727580 12089644 ARMC5 armadillo repeat containing 5 gene DOID:630 genetic disease ISO RGD:1315235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12089664 SAYSD1 SAYSVFN motif domain containing 1 gene DOID:630 genetic disease ISO RGD:1322030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12089684 RAB11B RAB11B, member RAS oncogene family gene DOID:0080490 mucolipidosis type IV ISO RGD:68529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 12089684 RAB11B RAB11B, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:68529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12089684 RAB11B RAB11B, member RAS oncogene family gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:68529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12089684 RAB11B RAB11B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:68529 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29106825 12089684 RAB11B RAB11B, member RAS oncogene family gene DOID:9009096 Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter ISO RGD:68529 D RGD:7240710 20190315 OMIM 12089684 RAB11B RAB11B, member RAS oncogene family gene DOID:9009096 Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter ISO RGD:68529 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter PMID:17576681|PMID:25741868|PMID:28492532|PMID:29106825|PMID:9536098 12089693 GPI glucose-6-phosphate isomerase gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1344852 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12089693 GPI glucose-6-phosphate isomerase gene DOID:1059 intellectual disability ISO RGD:1344852 D RGD:9068941 20200609 RGD Severe GPI deficiency with neurologic deficits DNA:point_mutations:CDS:compound heterozygote for 59A>C (amino acid H20P), and 1016T>C (amino acid L339P) PMID:9856489|REF_RGD_ID:1600632 12089693 GPI glucose-6-phosphate isomerase gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:10680 D RGD:9068941 20200609 RGD PMID:8417789|REF_RGD_ID:11051955 12089693 GPI glucose-6-phosphate isomerase gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:10680 D RGD:9068941 20220825 MouseDO OMIM:206300 | OMIM:206400 | OMIM:300908 | OMIM:613470 12089693 GPI glucose-6-phosphate isomerase gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:1344852 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:9446754|REF_RGD_ID:11051849 12089693 GPI glucose-6-phosphate isomerase gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:1344852 D RGD:9068941 20200609 RGD DNA:point_mutation:CDS:1648A>G amino acid K550E PMID:17041899|REF_RGD_ID:1600633 12089693 GPI glucose-6-phosphate isomerase gene DOID:3910 lung adenocarcinoma ISO RGD:10680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12089693 GPI glucose-6-phosphate isomerase gene DOID:440 neuromuscular disease ISO RGD:1344852 D RGD:9068941 20200609 RGD Severe GPI deficiency with neurologic deficits DNA:point_mutations:CDS:compound heterozygote for 59A>C (amino acid H20P), and 1016T>C (amino acid L339P) PMID:9856489|REF_RGD_ID:1600632 12089693 GPI glucose-6-phosphate isomerase gene DOID:583 hemolytic anemia ISO RGD:1344852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:32581362 12089693 GPI glucose-6-phosphate isomerase gene DOID:589 congenital hemolytic anemia ISO RGD:1344852 D RGD:9068941 20200609 RGD DNA:point_mutations:CDS:compound heterozygote for amino acids G158S and R346H PMID:8499925|REF_RGD_ID:1600631 12089693 GPI glucose-6-phosphate isomerase gene DOID:589 congenital hemolytic anemia ISO RGD:1344852 D RGD:9068941 20200609 RGD Severe GPI deficiency with neurologic deficits DNA:point_mutations:CDS:compound heterozygote for 59A>C (amino acid H20P), and 1016T>C (amino acid L339P) PMID:9856489|REF_RGD_ID:1600632 12089693 GPI glucose-6-phosphate isomerase gene DOID:630 genetic disease ISO RGD:1344852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19064002|PMID:25741868|PMID:28492532|PMID:31133865|PMID:8499925 12089693 GPI glucose-6-phosphate isomerase gene DOID:9000965 Neoplasm Metastasis ISO RGD:10680 D RGD:9068941 20200609 RGD PMID:20978190|REF_RGD_ID:11051956 12089693 GPI glucose-6-phosphate isomerase gene DOID:9002457 Experimental Arthritis ISO RGD:1344852 D RGD:9068941 20200609 RGD PMID:23911657|REF_RGD_ID:11051957 12089693 GPI glucose-6-phosphate isomerase gene DOID:9005912 Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency ISO RGD:1344852 D RGD:7240710 20180130 OMIM 12089693 GPI glucose-6-phosphate isomerase gene DOID:9005912 Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency ISO RGD:1344852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemolytic anemia, nonspherocytic, and neurologic deficits, due to glucose phosphate isomerase deficiency | ClinVar Annotator: match by term: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency PMID:10916680|PMID:19064002|PMID:24033266|PMID:25741868|PMID:26509025|PMID:27519939|PMID:28492532|PMID:30585945|PMID:31133865|PMID:32581362|PMID:4076245|PMID:7989588|PMID:8499925|PMID:8822952|PMID:8822954|PMID:9616041|PMID:9856489 12089693 GPI glucose-6-phosphate isomerase gene DOID:9006205 Animal Disease Models ISO RGD:10680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12089693 GPI glucose-6-phosphate isomerase gene DOID:9008939 Breast Neoplasms ISO RGD:1344852 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 12089693 GPI glucose-6-phosphate isomerase gene DOID:9119 acute myeloid leukemia ISO RGD:1344852 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:6589021|REF_RGD_ID:11051848 12089693 GPI glucose-6-phosphate isomerase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1344852 D RGD:9068941 20200609 RGD PMID:6589021|REF_RGD_ID:11051848 12089715 TMEM154 transmembrane protein 154 gene DOID:630 genetic disease ISO RGD:1603167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12089733 TMEM200A transmembrane protein 200A gene DOID:630 genetic disease ISO RGD:1345256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12089740 DOCK5 dedicator of cytokinesis 5 gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:1315737 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E PMID:19158810|PMID:20039262|PMID:28492532 12089740 DOCK5 dedicator of cytokinesis 5 gene DOID:10283 prostate cancer ISO RGD:1315737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12089740 DOCK5 dedicator of cytokinesis 5 gene DOID:630 genetic disease ISO RGD:1315737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12089803 SP2 Sp2 transcription factor gene DOID:630 genetic disease ISO RGD:1347414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12089819 ZBTB9 zinc finger and BTB domain containing 9 gene DOID:0050553 JMP syndrome ISO RGD:1354226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12089819 ZBTB9 zinc finger and BTB domain containing 9 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1354226 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 12089819 ZBTB9 zinc finger and BTB domain containing 9 gene DOID:630 genetic disease ISO RGD:1354226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12089827 PSMC4 proteasome 26S subunit, ATPase 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:731556 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12089827 PSMC4 proteasome 26S subunit, ATPase 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:731556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12089827 PSMC4 proteasome 26S subunit, ATPase 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:731556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12089827 PSMC4 proteasome 26S subunit, ATPase 4 gene DOID:2340 craniosynostosis ISO RGD:731556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12089827 PSMC4 proteasome 26S subunit, ATPase 4 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731557 D RGD:9068941 20220825 MouseDO 12089827 PSMC4 proteasome 26S subunit, ATPase 4 gene DOID:630 genetic disease ISO RGD:731556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12089827 PSMC4 proteasome 26S subunit, ATPase 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:731556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12089827 PSMC4 proteasome 26S subunit, ATPase 4 gene DOID:9269 maple syrup urine disease ISO RGD:731556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12089827 PSMC4 proteasome 26S subunit, ATPase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731556 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12089842 RDH14 retinol dehydrogenase 14 gene DOID:1059 intellectual disability ISO RGD:1320191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12089842 RDH14 retinol dehydrogenase 14 gene DOID:630 genetic disease ISO RGD:1320191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12089853 CLPSL2 colipase like 2 gene DOID:0050553 JMP syndrome ISO RGD:1605196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12089853 CLPSL2 colipase like 2 gene DOID:630 genetic disease ISO RGD:1605196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12089858 MIR30B microRNA mir-30b gene DOID:0060224 atrial fibrillation ISO RGD:1349241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12089858 MIR30B microRNA mir-30b gene DOID:11394 adult respiratory distress syndrome ISO RGD:1349241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12089858 MIR30B microRNA mir-30b gene DOID:219 colon cancer disease_progression ISO RGD:1349241 D RGD:9068941 20220825 RGD human cells in mouse model;RNA:increased expression:colon,exosome (human) PMID:28211508|REF_RGD_ID:153344546 12089858 MIR30B microRNA mir-30b gene DOID:4989 pancreatitis ISO RGD:1349241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12089858 MIR30B microRNA mir-30b gene DOID:5082 liver cirrhosis ISO RGD:1349241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12089858 MIR30B microRNA mir-30b gene DOID:6000 congestive heart failure ISO RGD:1349241 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12089858 MIR30B microRNA mir-30b gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1349241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12089858 MIR30B microRNA mir-30b gene DOID:9003936 Cardiomegaly ISO RGD:2325392 D RGD:9068941 20200609 RGD RNA:decreased expression:heart left ventricle PMID:23326547|REF_RGD_ID:11561904 12089858 MIR30B microRNA mir-30b gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12089858 MIR30B microRNA mir-30b gene DOID:9256 colorectal cancer disease_progression ISO RGD:1349241 D RGD:9068941 20200609 RGD PMID:24293274|REF_RGD_ID:13432037 12089898 B3GNT5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:735674 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12089898 B3GNT5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:735674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12089898 B3GNT5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 gene DOID:0111546 Currarino syndrome ISO RGD:735674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12089898 B3GNT5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 gene DOID:630 genetic disease ISO RGD:735674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090001 POLR3K RNA polymerase III subunit K gene DOID:630 genetic disease ISO RGD:1350025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090001 POLR3K RNA polymerase III subunit K gene DOID:9000217 Stomach Neoplasms ISO RGD:1350025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12090001 POLR3K RNA polymerase III subunit K gene DOID:9000918 Disease Progression ISO RGD:1350025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12090001 POLR3K RNA polymerase III subunit K gene DOID:9004862 Hypomyelinating Leukodystrophy 21 ISO RGD:1350025 D RGD:7240710 20210526 OMIM 12090001 POLR3K RNA polymerase III subunit K gene DOID:9004862 Hypomyelinating Leukodystrophy 21 ISO RGD:1350025 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 21 PMID:25741868|PMID:30584594 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:0060318 acute promyelocytic leukemia ISO RGD:731382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:731382 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:731382 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:16307017|PMID:22703879|PMID:24728327|PMID:25741868|PMID:28492532|PMID:31775759 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:10487 Hirschsprung's disease ISO RGD:731382 D RGD:9068941 20200609 RGD protein:decreased expression:aganglionic colon: PMID:8831584|REF_RGD_ID:12910727 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:10487 Hirschsprung's disease ISO RGD:731382 D RGD:9068941 20200609 RGD protein:decreased expression:intestine smooth muscle" PMID:9247236|REF_RGD_ID:12910747 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:11044 gastroschisis severity ISO RGD:620568 D RGD:9068941 20200609 RGD protein:decreased expression:intestine: PMID:15486901|REF_RGD_ID:12910745 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:11054 urinary bladder cancer ISO RGD:731382 D RGD:9068941 20200609 RGD urinary bladder small cell carcinoma; protein:increased expression:tumor:14/52 (27%) positive (>10% staining) PMID:15502806|REF_RGD_ID:2292430 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:12336 male infertility ISO RGD:620568 D RGD:9068941 20200609 RGD PMID:12932303|REF_RGD_ID:1600050 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:12449 aplastic anemia severity ISO RGD:620568 D RGD:9068941 20200609 RGD PMID:7694680|REF_RGD_ID:12910751 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:14566 disease of cellular proliferation ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:25157968|PMID:28492532 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:1790 malignant mesothelioma ISO RGD:731382 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:1909 melanoma ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10224103|PMID:10362788|PMID:10680913|PMID:11073817|PMID:11276010|PMID:11505412|PMID:11526490|PMID:12697809|PMID:12960119|PMID:14977822|PMID:15685537|PMID:15790786|PMID:16046538|PMID:16226710|PMID:16638875|PMID:16731599|PMID:16741525|PMID:16751810|PMID:16908931|PMID:16954519|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17489795|PMID:17699867|PMID:17824795|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18936790|PMID:18955458|PMID:18980976|PMID:19164557|PMID:19671763|PMID:19737976|PMID:19812602|PMID:19865100|PMID:19996579|PMID:20088873|PMID:20147452|PMID:20545949|PMID:20736294|PMID:21131919|PMID:21159146|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:21969494|PMID:22160160|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22626674|PMID:22932406|PMID:23106360|PMID:23149070|PMID:23375402|PMID:23582185|PMID:23598963|PMID:23648119|PMID:23714533|PMID:23775962|PMID:24531699|PMID:24661573|PMID:24755198|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:27771813|PMID:28492532|PMID:29098070|PMID:7513208|PMID:7530509|PMID:8589724|PMID:9438854|PMID:9657776 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:1909 melanoma ISO RGD:731382 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10362788|PMID:11073817|PMID:11276010|PMID:11505412|PMID:11526490|PMID:12960119|PMID:15685537|PMID:15790786|PMID:16046538|PMID:16638875|PMID:16731599|PMID:16741525|PMID:16751810|PMID:16908931|PMID:16954519|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17699867|PMID:17824795|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18936790|PMID:18955458|PMID:18980976|PMID:19164557|PMID:19671763|PMID:19737976|PMID:19812602|PMID:19865100|PMID:19996579|PMID:20088873|PMID:20147452|PMID:20545949|PMID:20736294|PMID:21131919|PMID:21159146|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:21969494|PMID:22160160|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22932406|PMID:23149070|PMID:23375402|PMID:23582185|PMID:23598963|PMID:23714533|PMID:23775962|PMID:24531699|PMID:24661573|PMID:24755198|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:27771813|PMID:28492532|PMID:7513208|PMID:7530509|PMID:8589724|PMID:9438854|PMID:9657776 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:1909 melanoma ISO RGD:731382 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10362788|PMID:10680913|PMID:11073817|PMID:11276010|PMID:11505412|PMID:11526490|PMID:12960119|PMID:14977822|PMID:15685537|PMID:15790786|PMID:16046538|PMID:16638875|PMID:16731599|PMID:16741525|PMID:16751810|PMID:16908931|PMID:16954519|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17699867|PMID:17824795|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18936790|PMID:18955458|PMID:18980976|PMID:19164557|PMID:19671763|PMID:19737976|PMID:19812602|PMID:19865100|PMID:19996579|PMID:20088873|PMID:20147452|PMID:20545949|PMID:20736294|PMID:21131919|PMID:21159146|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:21969494|PMID:22160160|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22932406|PMID:23149070|PMID:23375402|PMID:23582185|PMID:23598963|PMID:23714533|PMID:23775962|PMID:24531699|PMID:24661573|PMID:24755198|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:27771813|PMID:27981619|PMID:28492532|PMID:28710566|PMID:7513208|PMID:7530509|PMID:8589724|PMID:9438854|PMID:9657776 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:1909 melanoma ISO RGD:731382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10362788|PMID:10680913|PMID:11073817|PMID:11276010|PMID:11505412|PMID:11526490|PMID:12960119|PMID:14645423|PMID:14695343|PMID:14977822|PMID:15685537|PMID:15790786|PMID:16046538|PMID:16638875|PMID:16731599|PMID:16741525|PMID:16751810|PMID:16908931|PMID:16954519|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17489795|PMID:17699867|PMID:17824795|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18936790|PMID:18955458|PMID:18980976|PMID:19164557|PMID:19671763|PMID:19737976|PMID:19812602|PMID:19865100|PMID:19996579|PMID:20088873|PMID:20147452|PMID:20545949|PMID:20736294|PMID:20890793|PMID:21131919|PMID:21159146|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:21969494|PMID:22160160|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22626674|PMID:22932406|PMID:23106360|PMID:23149070|PMID:23375402|PMID:23582185|PMID:23598963|PMID:23648119|PMID:23714533|PMID:23775962|PMID:24531699|PMID:24661573|PMID:24755198|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:27771813|PMID:27981619|PMID:28492532|PMID:28506695|PMID:28710566|PMID:29098070|PMID:33212994|PMID:34338390|PMID:7513208|PMID:7530509|PMID:8589724|PMID:9438854|PMID:9657776 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:1909 melanoma disease_progression ISO RGD:731382 D RGD:9068941 20200609 RGD PMID:9310959|REF_RGD_ID:12910725 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:1967 leiomyosarcoma ISO RGD:731382 D RGD:9068941 20200609 RGD Uterine; protein:increased expression:tumor:10/14 tumors (71%) PMID:17367465|REF_RGD_ID:2292170 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:2154 nephroblastoma disease_progression ISO RGD:731382 D RGD:9068941 20200609 RGD PMID:19010635|REF_RGD_ID:12910726 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:2226 myeloproliferative neoplasm ISO RGD:731382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm PMID:11208730|PMID:11505412|PMID:15837988|PMID:17259998|PMID:19175693|PMID:21689725|PMID:23582185|PMID:24847623|PMID:25157968|PMID:28492532 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:2361 macrocytic anemia ISO RGD:731383 D RGD:9068941 20220825 MouseDO 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:2394 ovarian cancer ISO RGD:731382 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:22703879|PMID:25176472|PMID:25741868|PMID:28492532|PMID:31911633|PMID:32091409 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:2531 hematologic cancer ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hematological malignancies PMID:11380399|PMID:11493470|PMID:15790786|PMID:15972446|PMID:16352739|PMID:16384925|PMID:16731599|PMID:16741525|PMID:16912224|PMID:17259998|PMID:18024392|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19865100|PMID:21689725|PMID:22504184|PMID:23582185|PMID:23714533|PMID:24045550|PMID:25157968|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27777718|PMID:28492532|PMID:7479840|PMID:7513208|PMID:7691885|PMID:8589724|PMID:9657776|PMID:9827716|PMID:9990072 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:2913 acute pancreatitis ISO RGD:620568 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:jejunum PMID:23599644|REF_RGD_ID:12910752 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:2998 testicular cancer ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cancer of the testes | ClinVar Annotator: match by term: Malignant tumor of testis PMID:25741868|PMID:28492532 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:2999 granulosa cell tumor ISO RGD:731382 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary PMID:18028988|REF_RGD_ID:2302173 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:3008 invasive ductal carcinoma severity ISO RGD:731382 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:loss of expression associated with lymph node metastasis (p<0.0001) and reduced disease-free survival (p=0.0041) PMID:16721362|REF_RGD_ID:2292426 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:3082 interstitial lung disease ISO RGD:731382 D RGD:9068941 20200609 RGD PMID:15887294|REF_RGD_ID:12910743 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:3263 piebaldism ISO RGD:731382 D RGD:7240710 20180130 OMIM 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:3263 piebaldism ISO RGD:731382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Partial albinism | ClinVar Annotator: match by term: Piebaldism | ClinVar Annotator: match by term: Piebaldism with sensorineural deafness | ClinVar Annotator: match by term: Piebaldism, progressive PMID:10554798|PMID:11074500|PMID:11174389|PMID:11380399|PMID:1370874|PMID:1376329|PMID:1384325|PMID:15194144|PMID:16081693|PMID:16199547|PMID:16307017|PMID:17065430|PMID:1717985|PMID:1720553|PMID:17525721|PMID:20140688|PMID:20205869|PMID:20339585|PMID:20890793|PMID:22670867|PMID:22703879|PMID:23020152|PMID:23593539|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25176472|PMID:25637381|PMID:25741868|PMID:25975190|PMID:26158763|PMID:27023146|PMID:27214377|PMID:27258816|PMID:28492532|PMID:30019023|PMID:31775759|PMID:338655|PMID:34008892|PMID:7529964|PMID:9450866|PMID:9699740 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:3275 thymoma ISO RGD:731382 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thymoma PMID:10680913|PMID:11276010|PMID:11505412|PMID:12960119|PMID:14977822|PMID:15790786|PMID:16731599|PMID:16908931|PMID:17372901|PMID:17699867|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18936790|PMID:18980976|PMID:19461405|PMID:19671763|PMID:19812602|PMID:19861435|PMID:19996579|PMID:20736294|PMID:20970876|PMID:21159146|PMID:21325067|PMID:21642685|PMID:21690468|PMID:21969494|PMID:22261812|PMID:22357254|PMID:23375402|PMID:23598963|PMID:24755198|PMID:25157968|PMID:27771813|PMID:27981619|PMID:28492532|PMID:28710566|PMID:7530509|PMID:9438854 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:349 systemic mastocytosis ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic mast cell disease PMID:18559612 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:350 mastocytosis ISO RGD:731382 D RGD:7240710 20180130 OMIM 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:350 mastocytosis ISO RGD:731382 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mast cell disease | ClinVar Annotator: match by term: Mastocytosis PMID:10554798|PMID:11380399|PMID:15790786|PMID:16081693|PMID:16307017|PMID:17065430|PMID:17525721|PMID:20140688|PMID:20205869|PMID:20339585|PMID:20890793|PMID:22703879|PMID:23020152|PMID:23593539|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25637381|PMID:25741868|PMID:25975190|PMID:26158763|PMID:27023146|PMID:27214377|PMID:27258816|PMID:28492532|PMID:30019023|PMID:31775759|PMID:7529964|PMID:8589724 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:3663 cutaneous mastocytosis ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous mastocytosis PMID:11276010|PMID:11380399|PMID:11493470|PMID:11505412|PMID:12960119|PMID:15173254|PMID:15790786|PMID:15972446|PMID:16352739|PMID:16384925|PMID:16731599|PMID:16908931|PMID:16912224|PMID:17259998|PMID:17372901|PMID:18024392|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19812602|PMID:19865100|PMID:20736294|PMID:21159146|PMID:21689725|PMID:22357254|PMID:22504184|PMID:23582185|PMID:23714533|PMID:24045550|PMID:24755198|PMID:25157968|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27777718|PMID:28492532|PMID:7479840|PMID:7530509|PMID:7691885|PMID:8589724|PMID:9438854|PMID:9827716|PMID:9990072 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:3717 gastric adenocarcinoma ISO RGD:731382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11073817|PMID:11276010|PMID:11526490|PMID:15790786|PMID:16908931|PMID:17372901|PMID:17824795|PMID:18510589|PMID:18980976|PMID:20545949|PMID:22626674|PMID:23648119|PMID:25157968|PMID:26619011|PMID:28492532|PMID:29098070|PMID:7530509|PMID:9438854 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:3907 lung squamous cell carcinoma ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:731382 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:11276010|PMID:15790786|PMID:16731599|PMID:16908931|PMID:17372901|PMID:18448188|PMID:18980976|PMID:19671763|PMID:19996579|PMID:21642685|PMID:21690468|PMID:22261812|PMID:22357254|PMID:23598963|PMID:25157968|PMID:27771813|PMID:27981619|PMID:28492532|PMID:7530509|PMID:9438854 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:4226 endometrial stromal sarcoma ISO RGD:731382 D RGD:9068941 20200609 RGD protein:increased expression:tumor:increased in 6/8 (75%) of tumors PMID:17367465|REF_RGD_ID:2292170 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:4440 seminoma ISO RGD:731382 D RGD:9068941 20200609 RGD DNA:transversion:CDS:2467G>C, amino acid D816H PMID:10362788|REF_RGD_ID:2292181 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:4441 dysgerminoma ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysgerminoma PMID:10362788|PMID:11276010|PMID:11380399|PMID:11493470|PMID:15790786|PMID:15972446|PMID:16352739|PMID:16384925|PMID:16731599|PMID:16912224|PMID:17259998|PMID:18024392|PMID:18955458|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19865100|PMID:20147452|PMID:21642685|PMID:21689725|PMID:21690468|PMID:22504184|PMID:23582185|PMID:23714533|PMID:24045550|PMID:25157968|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27777718|PMID:28492532|PMID:7479840|PMID:7530509|PMID:7691885|PMID:8589724|PMID:9438854|PMID:9827716|PMID:9990072 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:731382 D RGD:9068941 20200609 RGD chromophobe RCC only; mRNA:increased expression:tumor:positive in 6/7 chromophobe RCCs, but 0/15 clear cell RCCs and 1/15 papillary RCCs PMID:15780567|REF_RGD_ID:2292414 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:731382 D RGD:9068941 20200609 RGD papillary RCC only; DNA:mutation:intron:heterozygous T>A mutation in intron 17 found in 94% of cases, also protein found to be cytoplasmic not membrane-bound in 100% of cases PMID:15073597|REF_RGD_ID:2292421 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:731382 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:5389 oxyphilic adenoma ISO RGD:731382 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:positive in 7/8 renal oncocytomas PMID:15780567|REF_RGD_ID:2292414 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:5409 lung small cell carcinoma ISO RGD:731382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15499612 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:5419 schizophrenia ISO RGD:731382 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:16307017|PMID:22703879|PMID:24728327|PMID:25741868|PMID:28492532|PMID:31775759 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:5557 testicular germ cell cancer ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis PMID:10362788|PMID:11276010|PMID:15790786|PMID:16731599|PMID:18955458|PMID:19164557|PMID:20147452|PMID:21642685|PMID:21690468|PMID:25157968|PMID:25741868|PMID:26822237|PMID:7530509|PMID:9438854 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:612 primary immunodeficiency disease ISO RGD:731383 D RGD:9068941 20200609 RGD PMID:12354381|REF_RGD_ID:12910746 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:6171 uterine carcinosarcoma ISO RGD:731382 D RGD:9068941 20200609 RGD Uterine Carcinosarcomas; protein:increased expression:tumor:10/12 tumors (83%) PMID:17367465|REF_RGD_ID:2292170 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:731382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:8440 ileus treatment ISO RGD:620568 D RGD:9068941 20220421 RGD PMID:30852906|REF_RGD_ID:151893492 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:850 lung disease ISO RGD:731382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21471107 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:8923 skin melanoma ISO RGD:731382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11073817|PMID:11276010|PMID:11526490|PMID:15790786|PMID:16908931|PMID:17372901|PMID:17824795|PMID:18510589|PMID:18980976|PMID:20545949|PMID:22626674|PMID:23648119|PMID:25157968|PMID:26619011|PMID:28492532|PMID:29098070|PMID:7530509|PMID:9438854 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:731382 D RGD:9068941 20200609 RGD DNA:missense mutations: :multiple (human) PMID:17768701|REF_RGD_ID:2302175 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:731382 D RGD:9068941 20200609 RGD DNA:mutations:exon (human) PMID:18006222|REF_RGD_ID:2302174 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9001581 Constipation ISO RGD:620568 D RGD:9068941 20220505 RGD mRNA, protein:decreased expression:colon PMID:33792838|REF_RGD_ID:152025536 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9002566 Gastric Reperfusion Injury ISO RGD:620568 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:stomach: PMID:20040059|REF_RGD_ID:12911222 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:731382 D RGD:9068941 20200609 RGD advanced serous ovarian carcinoma; protein:increased expression:tumor:expression correlated with disease progression after first-line chemotherapy (i.e. chemotherapy resistance), p=0.029 PMID:15033665|REF_RGD_ID:2292422 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:731383 D RGD:9068941 20200609 RGD PMID:25972476|REF_RGD_ID:12910744 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:731382 D RGD:7240710 20180130 OMIM 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis PMID:10362788|PMID:11276010|PMID:15790786|PMID:16731599|PMID:18955458|PMID:19164557|PMID:20147452|PMID:21642685|PMID:21690468|PMID:25157968|PMID:25741868|PMID:26822237|PMID:7530509|PMID:9438854 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9004240 Phyllodes Tumor severity ISO RGD:731382 D RGD:9068941 20200609 RGD protein:increased expression:tumor:significantly more malignant tumors positive for KIT (46%) vs benign (17%) or borderline (24%), p=0.001 PMID:15044924|REF_RGD_ID:2292419 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9004283 Transplant Rejection ISO RGD:620568 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:9862859|REF_RGD_ID:12910749 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9004590 Acute Liver Failure ISO RGD:731382 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:10385646|REF_RGD_ID:12910730 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:731382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22277784 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:620568 D RGD:9068941 20200609 RGD DNA:mutation (rat) PMID:18445266|REF_RGD_ID:2302172 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620568 D RGD:9068941 20221020 RGD protein:increased expression:pancreas PMID:17235568|REF_RGD_ID:2311225 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9006532 Hematologic Neoplasms ISO RGD:731382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hematologic neoplasm | ClinVar Annotator: match by term: Hematological neoplasm PMID:10362788|PMID:11073817|PMID:11276010|PMID:11380399|PMID:11493470|PMID:11526490|PMID:15790786|PMID:15972446|PMID:16352739|PMID:16384925|PMID:16731599|PMID:16741525|PMID:16908931|PMID:16912224|PMID:17259998|PMID:17372901|PMID:17824795|PMID:18024392|PMID:18510589|PMID:18955458|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19865100|PMID:20147452|PMID:20545949|PMID:21642685|PMID:21689725|PMID:21690468|PMID:22504184|PMID:22626674|PMID:23582185|PMID:23648119|PMID:23714533|PMID:24045550|PMID:25157968|PMID:25741868|PMID:26158763|PMID:26619011|PMID:26822237|PMID:27777718|PMID:28492532|PMID:29098070|PMID:7479840|PMID:7513208|PMID:7530509|PMID:7691885|PMID:8589724|PMID:9438854|PMID:9657776|PMID:9827716|PMID:9990072 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:731382 D RGD:9068941 20200609 RGD Gastrointestinal Stromal Tumors PMID:9697690|REF_RGD_ID:1600047 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9007058 Primitive Peripheral Neuroectodermal Tumors ISO RGD:731382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15618851 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11380399|PMID:16081693|PMID:16307017|PMID:17065430|PMID:18830255|PMID:19861435|PMID:20140688|PMID:20205869|PMID:20339585|PMID:22703879|PMID:23020152|PMID:23593539|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25637381|PMID:25741868|PMID:26158763|PMID:27023146|PMID:27214377|PMID:27258816|PMID:28166811|PMID:28492532|PMID:29146883|PMID:31775759|PMID:7529964 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731382 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11380399|PMID:16081693|PMID:16307017|PMID:17065430|PMID:18830255|PMID:19861435|PMID:20140688|PMID:20205869|PMID:20339585|PMID:22703879|PMID:23020152|PMID:23593539|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25637381|PMID:25741868|PMID:26158763|PMID:27023146|PMID:27214377|PMID:27258816|PMID:28492532|PMID:29146883|PMID:29625052|PMID:31775759|PMID:7529964 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731382 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10554798|PMID:11380399|PMID:16081693|PMID:16307017|PMID:17065430|PMID:18830255|PMID:19861435|PMID:20140688|PMID:20205869|PMID:20339585|PMID:22703879|PMID:23020152|PMID:23593539|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25637381|PMID:25741868|PMID:26158763|PMID:27023146|PMID:27214377|PMID:27258816|PMID:28492532|PMID:29146883|PMID:29625052|PMID:31775759|PMID:7529964 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731382 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10554798|PMID:10680913|PMID:11276010|PMID:11380399|PMID:11493470|PMID:12960119|PMID:14977822|PMID:15790786|PMID:15897563|PMID:15972446|PMID:16081693|PMID:16307017|PMID:16352739|PMID:16384925|PMID:16460801|PMID:16731599|PMID:16908931|PMID:16912224|PMID:17001171|PMID:17065430|PMID:17259998|PMID:17372901|PMID:17576681|PMID:17943734|PMID:18024392|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18830255|PMID:18936790|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19671763|PMID:19812602|PMID:19861435|PMID:19865100|PMID:19996579|PMID:20140688|PMID:20205869|PMID:20339585|PMID:21642685|PMID:21689725|PMID:21690468|PMID:22083669|PMID:22261812|PMID:22357254|PMID:22504184|PMID:22703879|PMID:23020152|PMID:23582185|PMID:23593539|PMID:23598963|PMID:23714533|PMID:24045550|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27023146|PMID:27214377|PMID:27258816|PMID:27771813|PMID:27777718|PMID:27981619|PMID:28327988|PMID:28492532|PMID:28520972|PMID:28710566|PMID:28724667|PMID:29146883|PMID:29625052|PMID:29641532|PMID:30019023|PMID:30280421|PMID:31350202|PMID:31775759|PMID:7479840|PMID:7529964|PMID:7530509|PMID:7691885|PMID:8589724|PMID:9438854|PMID:9536098|PMID:9797363|PMID:9827716|PMID:9990072 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731382 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10554798|PMID:10680913|PMID:11276010|PMID:11380399|PMID:11493470|PMID:12960119|PMID:14977822|PMID:15790786|PMID:15897563|PMID:15972446|PMID:16081693|PMID:16307017|PMID:16352739|PMID:16384925|PMID:16460801|PMID:16731599|PMID:16908931|PMID:16912224|PMID:17001171|PMID:17065430|PMID:17259998|PMID:17372901|PMID:17576681|PMID:17943734|PMID:18024392|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18830255|PMID:18936790|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19671763|PMID:19812602|PMID:19861435|PMID:19865100|PMID:19996579|PMID:20140688|PMID:20205869|PMID:20339585|PMID:21642685|PMID:21689725|PMID:21690468|PMID:22083669|PMID:22261812|PMID:22357254|PMID:22504184|PMID:22703879|PMID:23020152|PMID:23582185|PMID:23593539|PMID:23598963|PMID:23714533|PMID:24045550|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27023146|PMID:27214377|PMID:27258816|PMID:27771813|PMID:27777718|PMID:27981619|PMID:28327988|PMID:28492532|PMID:28520972|PMID:28710566|PMID:28724667|PMID:29146883|PMID:29625052|PMID:29641532|PMID:30019023|PMID:30280421|PMID:31350202|PMID:31775759|PMID:31911633|PMID:32091409|PMID:7479840|PMID:7529964|PMID:7530509|PMID:7691885|PMID:8589724|PMID:9438854|PMID:9536098|PMID:9797363|PMID:9827716|PMID:9990072 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9007432 Latent Tuberculosis ISO RGD:731382 D RGD:9068941 20210212 RGD mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human PMID:29602771|REF_RGD_ID:41404732 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:731382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20941507 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:731382 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:mean immunoreactive score = 5.90 in normal breast, 0.90 in malignant tissue (p=0.001) PMID:14669790|REF_RGD_ID:2292423 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:731382 D RGD:9068941 20200609 RGD protein:increased expression:tumor:significantly increased vs fibroadenoma (p=0.035) PMID:17848740|REF_RGD_ID:2292424 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:731382 D RGD:9068941 20200609 RGD PMID:21388062|REF_RGD_ID:12910741 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms severity ISO RGD:731382 D RGD:9068941 20200609 RGD protein:expression:tumor:expression correlated with poor overall survival (p=0.051) and with high grade (p=0.019) PMID:17867595|REF_RGD_ID:2292425 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9119 acute myeloid leukemia ISO RGD:731382 D RGD:7240710 20180130 OMIM 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9119 acute myeloid leukemia ISO RGD:731382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11380399|PMID:11493470|PMID:14645423|PMID:14695343|PMID:15685537|PMID:15790786|PMID:15972446|PMID:16352739|PMID:16384925|PMID:16731599|PMID:16741525|PMID:16912224|PMID:17259998|PMID:17699867|PMID:18024392|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19865100|PMID:20890793|PMID:21642685|PMID:21689725|PMID:22504184|PMID:22932406|PMID:23149070|PMID:23582185|PMID:23714533|PMID:24045550|PMID:25157968|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27777718|PMID:28492532|PMID:28506695|PMID:7479840|PMID:7513208|PMID:7691885|PMID:8589724|PMID:9657776|PMID:9827716|PMID:9990072 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9253 gastrointestinal stromal tumor IAGP D RGD:12801476 20210603 OMIA Gastrointestinal stromal tumour PMID:20950418|PMID:26631948 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731382 D RGD:7240710 20180130 OMIM 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731382 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, familial | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:10224103|PMID:10362788|PMID:10554798|PMID:10680913|PMID:11073817|PMID:11074500|PMID:11208730|PMID:11276010|PMID:11380399|PMID:11493470|PMID:11505412|PMID:11526490|PMID:11984533|PMID:1279971|PMID:12878163|PMID:12960119|PMID:1370874|PMID:1384325|PMID:14645423|PMID:14695343|PMID:14977822|PMID:15194144|PMID:15236194|PMID:15685537|PMID:15790786|PMID:15824741|PMID:15837988|PMID:15897563|PMID:15972446|PMID:16046538|PMID:16081693|PMID:16183119|PMID:16199547|PMID:16220461|PMID:16307017|PMID:16327443|PMID:16352739|PMID:16384925|PMID:16460801|PMID:16638875|PMID:16731599|PMID:16741525|PMID:16751810|PMID:16908931|PMID:16912224|PMID:16954519|PMID:17001171|PMID:17065430|PMID:17107413|PMID:17124503|PMID:1720553|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17489795|PMID:17525721|PMID:17576681|PMID:17699867|PMID:17710669|PMID:17824795|PMID:17904548|PMID:17943734|PMID:18024392|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18567837|PMID:18830255|PMID:18936790|PMID:18955458|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19175693|PMID:19262599|PMID:19671763|PMID:19737976|PMID:19812602|PMID:19847891|PMID:19861435|PMID:19865100|PMID:19996579|PMID:20137753|PMID:20140688|PMID:20147452|PMID:20205869|PMID:20339585|PMID:20545949|PMID:20736294|PMID:20890793|PMID:21119596|PMID:21159146|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:22083669|PMID:22160160|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22504184|PMID:22626674|PMID:22670867|PMID:22703879|PMID:22932406|PMID:23020152|PMID:23106360|PMID:23149070|PMID:23567324|PMID:23582185|PMID:23593539|PMID:23598963|PMID:23610110|PMID:23648119|PMID:23714533|PMID:24045550|PMID:24205792|PMID:24531699|PMID:24565205|PMID:24582309|PMID:24661573|PMID:24687822|PMID:24728327|PMID:24755198|PMID:24847623|PMID:25079768|PMID:25139846|PMID:25157968|PMID:25176472|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25886408|PMID:25975190|PMID:26158763|PMID:26619011|PMID:26689913|PMID:26822237|PMID:27023146|PMID:27068398|PMID:27214377|PMID:27258816|PMID:27577211|PMID:27771813|PMID:27777718|PMID:27981619|PMID:28327988|PMID:28492532|PMID:28506695|PMID:28520972|PMID:28710566|PMID:28724667|PMID:29098070|PMID:29146883|PMID:29439183|PMID:29625052|PMID:29641532|PMID:29896733|PMID:30019023|PMID:30280421|PMID:30374176|PMID:31350202|PMID:31775759|PMID:31911633|PMID:32091409|PMID:33212994|PMID:34338390|PMID:7479840|PMID:7513208|PMID:7529964|PMID:7530509|PMID:7687267|PMID:7691885|PMID:7694728|PMID:8589724|PMID:8875953|PMID:9029028|PMID:9438854|PMID:9536098|PMID:9657776|PMID:9797363|PMID:9827716|PMID:9990072 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9253 gastrointestinal stromal tumor disease_progression ISO RGD:731382 D RGD:9068941 20220421 RGD DNA:SNP: :rs17084733 (human) PMID:30983504|REF_RGD_ID:151709007 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:9254 mast-cell leukemia ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mast cell leukemia PMID:11380399|PMID:11493470|PMID:15972446|PMID:16352739|PMID:16384925|PMID:16731599|PMID:16912224|PMID:17259998|PMID:18024392|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19865100|PMID:21689725|PMID:22504184|PMID:23582185|PMID:23714533|PMID:24045550|PMID:25157968|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27777718|PMID:28492532|PMID:7479840|PMID:7691885|PMID:8589724|PMID:9827716|PMID:9990072 12090012 KIT KIT proto-oncogene, receptor tyrosine kinase gene DOID:962 neurofibroma ISO RGD:731382 D RGD:9068941 20200609 RGD mRNA:increased expression:skin: PMID:7692836|REF_RGD_ID:12910728 12090048 CEP162 centrosomal protein 162 gene DOID:630 genetic disease ISO RGD:1316522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090083 TMEM236 transmembrane protein 236 gene DOID:630 genetic disease ISO RGD:1349731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090101 ATG5 autophagy related 5 gene DOID:0080259 autosomal recessive spinocerebellar ataxia 25 ISO RGD:1353398 D RGD:7240710 20190315 OMIM 12090101 ATG5 autophagy related 5 gene DOID:0080259 autosomal recessive spinocerebellar ataxia 25 ISO RGD:1353398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 25 PMID:15981765|PMID:26812546 12090101 ATG5 autophagy related 5 gene DOID:2355 anemia ISO RGD:1353398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 12090101 ATG5 autophagy related 5 gene DOID:326 ischemia ISO RGD:1359580 D RGD:9068941 20200609 RGD PMID:25435100|REF_RGD_ID:11561945 12090101 ATG5 autophagy related 5 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1556965 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:23851366|REF_RGD_ID:11561951 12090101 ATG5 autophagy related 5 gene DOID:5082 liver cirrhosis ISO RGD:1353398 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33549628 12090101 ATG5 autophagy related 5 gene DOID:614 lymphopenia ISO RGD:1353398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 12090101 ATG5 autophagy related 5 gene DOID:630 genetic disease ISO RGD:1353398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090101 ATG5 autophagy related 5 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1353398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 12090101 ATG5 autophagy related 5 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1359580 D RGD:9068941 20200609 RGD protein:increased expression:axon PMID:25040536|REF_RGD_ID:11553820 12090101 ATG5 autophagy related 5 gene DOID:9001981 Weight Loss ISO RGD:1353398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 12090101 ATG5 autophagy related 5 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1353398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28408137 12090101 ATG5 autophagy related 5 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1359580 D RGD:9068941 20200609 RGD PMID:24998254|REF_RGD_ID:11561938 12090101 ATG5 autophagy related 5 gene DOID:9005369 Hepatomegaly ISO RGD:1353398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22491424 12090101 ATG5 autophagy related 5 gene DOID:9005749 Necrosis ISO RGD:1353398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20578144 12090101 ATG5 autophagy related 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22491424 12090101 ATG5 autophagy related 5 gene DOID:9008617 Lethargy ISO RGD:1353398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 12090101 ATG5 autophagy related 5 gene DOID:9074 systemic lupus erythematosus ISO RGD:1556965 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12090138 GUCY2D guanylate cyclase 2D, retinal gene DOID:0050572 cone-rod dystrophy ISO RGD:1343485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868|PMID:28492532|PMID:30319355 12090138 GUCY2D guanylate cyclase 2D, retinal gene DOID:0050795 cone dystrophy ISO RGD:1343485 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:10676808|PMID:10951519|PMID:11115851|PMID:11565546|PMID:12552567|PMID:15175914|PMID:18055820|PMID:18487367|PMID:21602930|PMID:24875811|PMID:25741868|PMID:26298565|PMID:28041643|PMID:28492532|PMID:29178642|PMID:30718709|PMID:33546218|PMID:34048777|PMID:8554074|PMID:9618177 12090138 GUCY2D guanylate cyclase 2D, retinal gene DOID:0060711 autosomal recessive congenital ichthyosis 3 ISO RGD:1343485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 PMID:24824130 12090138 GUCY2D guanylate cyclase 2D, retinal gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1343485 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12090138 GUCY2D guanylate cyclase 2D, retinal gene DOID:0110016 Leber congenital amaurosis 2 ISO RGD:1343485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset retinal dystrophy PMID:15024725 12090138 GUCY2D guanylate cyclase 2D, retinal gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1343485 D RGD:7240710 20180130 OMIM 12090138 GUCY2D guanylate cyclase 2D, retinal gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1343485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER I | ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:10676808|PMID:10766140|PMID:10951519|PMID:11035546|PMID:11115851|PMID:11328726|PMID:11565546|PMID:12325031|PMID:12552567|PMID:15024725|PMID:15175914|PMID:15691574|PMID:16123401|PMID:16199547|PMID:16205573|PMID:16505055|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055820|PMID:18487367|PMID:20050595|PMID:20683928|PMID:21602930|PMID:23035049|PMID:23484092|PMID:23847139|PMID:24033266|PMID:24875811|PMID:24997176|PMID:25477517|PMID:25741868|PMID:26047050|PMID:26253563|PMID:26298565|PMID:26352687|PMID:26626312|PMID:26957854|PMID:27422788|PMID:28041643|PMID:28492532|PMID:28966547|PMID:29061346|PMID:29178642|PMID:29559409|PMID:30319355|PMID:30718709|PMID:31630094|PMID:32165824|PMID:32821499|PMID:32865313|PMID:33109612|PMID:33546218|PMID:34008892|PMID:34048777|PMID:8554074|PMID:8944027|PMID:9536098|PMID:9618177|PMID:9683616|PMID:9888789 12090138 GUCY2D guanylate cyclase 2D, retinal gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1343485 D RGD:7240710 20180130 OMIM 12090138 GUCY2D guanylate cyclase 2D, retinal gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1343485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 | ClinVar Annotator: match by term: Retinal cone dystrophy 2 PMID:10636733|PMID:10676808|PMID:10766140|PMID:10951519|PMID:11035546|PMID:11115851|PMID:11328726|PMID:11565546|PMID:12325031|PMID:12552567|PMID:15024725|PMID:15123990|PMID:15175914|PMID:15504042|PMID:16123401|PMID:16199547|PMID:16505055|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18055820|PMID:18487367|PMID:19959640|PMID:20050595|PMID:20079931|PMID:20517349|PMID:20683928|PMID:21153841|PMID:21602930|PMID:22025579|PMID:22695961|PMID:23035049|PMID:23563732|PMID:23661368|PMID:23734073|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24875811|PMID:24997176|PMID:25477517|PMID:25616661|PMID:25741868|PMID:26047050|PMID:26100624|PMID:26253563|PMID:26298565|PMID:26352687|PMID:26355662|PMID:26626312|PMID:27375279|PMID:27422788|PMID:27703005|PMID:27881908|PMID:28041643|PMID:28341476|PMID:28492532|PMID:28838317|PMID:28966547|PMID:29061346|PMID:29068479|PMID:29178642|PMID:29440533|PMID:29555955|PMID:29559409|PMID:30319355|PMID:30653986|PMID:30718709|PMID:31456290|PMID:31630094|PMID:32141364|PMID:32165824|PMID:32821499|PMID:32865313|PMID:33109612|PMID:33546218|PMID:34008892|PMID:34048777|PMID:8554074|PMID:8944027|PMID:9536098|PMID:9618177|PMID:9683616 12090138 GUCY2D guanylate cyclase 2D, retinal gene DOID:10584 retinitis pigmentosa ISO RGD:1343485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10676808|PMID:11115851|PMID:11565546|PMID:12552567|PMID:24875811|PMID:25741868|PMID:26298565|PMID:28041643|PMID:28492532|PMID:30718709|PMID:33546218 12090138 GUCY2D guanylate cyclase 2D, retinal gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:1343485 D RGD:9068941 20200609 RGD DNA:mutation:exon PMID:11565546|REF_RGD_ID:1599624 12090138 GUCY2D guanylate cyclase 2D, retinal gene DOID:12177 common variable immunodeficiency ISO RGD:1343485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12090138 GUCY2D guanylate cyclase 2D, retinal gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1343485 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12090138 GUCY2D guanylate cyclase 2D, retinal gene DOID:14791 Leber congenital amaurosis ISO RGD:1343485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital PMID:10676808|PMID:10766140|PMID:10951519|PMID:11115851|PMID:11328726|PMID:11565546|PMID:12552567|PMID:16505055|PMID:17724218|PMID:17964524|PMID:20050595|PMID:20683928|PMID:23035049|PMID:24875811|PMID:25477517|PMID:25741868|PMID:26253563|PMID:26298565|PMID:26626312|PMID:28041643|PMID:28492532|PMID:29061346|PMID:29559409|PMID:30718709|PMID:32165824|PMID:33546218|PMID:34008892|PMID:8944027|PMID:9683616 12090138 GUCY2D guanylate cyclase 2D, retinal gene DOID:14791 Leber congenital amaurosis ISO RGD:1343485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital retinal blindness | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital PMID:10676808|PMID:10766140|PMID:10951519|PMID:11115851|PMID:11328726|PMID:11565546|PMID:12552567|PMID:16505055|PMID:17724218|PMID:20050595|PMID:20683928|PMID:23035049|PMID:24875811|PMID:25477517|PMID:25741868|PMID:26253563|PMID:26298565|PMID:26626312|PMID:28041643|PMID:28492532|PMID:29061346|PMID:29559409|PMID:30319355|PMID:30718709|PMID:31456290|PMID:32165824|PMID:32821499|PMID:32865313|PMID:33109612|PMID:33546218|PMID:34008892|PMID:8944027|PMID:9683616 12090138 GUCY2D guanylate cyclase 2D, retinal gene DOID:2729 dyskeratosis congenita ISO RGD:1343485 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12090138 GUCY2D guanylate cyclase 2D, retinal gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1343485 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12090138 GUCY2D guanylate cyclase 2D, retinal gene DOID:4448 macular degeneration ISO RGD:1343485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:10676808|PMID:11115851|PMID:11565546|PMID:12552567|PMID:24875811|PMID:25741868|PMID:26298565|PMID:28041643|PMID:28492532|PMID:30718709|PMID:33546218 12090138 GUCY2D guanylate cyclase 2D, retinal gene DOID:630 genetic disease ISO RGD:1343485 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10951519|PMID:11328726|PMID:15024725|PMID:16199547|PMID:17964524|PMID:25741868|PMID:26047050|PMID:28492532 12090138 GUCY2D guanylate cyclase 2D, retinal gene DOID:8501 fundus dystrophy ISO RGD:1343485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10676808|PMID:10766140|PMID:10951519|PMID:11035546|PMID:11115851|PMID:11328726|PMID:11565546|PMID:12552567|PMID:15123990|PMID:15175914|PMID:16505055|PMID:17724218|PMID:17964524|PMID:18487367|PMID:20050595|PMID:21602930|PMID:23035049|PMID:24875811|PMID:25477517|PMID:25741868|PMID:26047050|PMID:26253563|PMID:26298565|PMID:26626312|PMID:28041643|PMID:28492532|PMID:29061346|PMID:29555955|PMID:29559409|PMID:30319355|PMID:30718709|PMID:33546218|PMID:34008892|PMID:8554074|PMID:9618177 12090138 GUCY2D guanylate cyclase 2D, retinal gene DOID:9000343 Vision Disorders ISO RGD:1343485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:10676808|PMID:11115851|PMID:11565546|PMID:12552567|PMID:24875811|PMID:25741868|PMID:26298565|PMID:28041643|PMID:28492532|PMID:30718709|PMID:33546218 12090138 GUCY2D guanylate cyclase 2D, retinal gene DOID:9004519 Congenital Stationary Night Blindness 1I ISO RGD:1343485 D RGD:7240710 20190911 OMIM 12090138 GUCY2D guanylate cyclase 2D, retinal gene DOID:9004519 Congenital Stationary Night Blindness 1I ISO RGD:1343485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1I PMID:10766140|PMID:16505055|PMID:17724218|PMID:20050595|PMID:23035049|PMID:25477517|PMID:25741868|PMID:26253563|PMID:26626312|PMID:28492532|PMID:29061346|PMID:29559409|PMID:30319355|PMID:30718709|PMID:32821499|PMID:33109612|PMID:34008892 12090138 GUCY2D guanylate cyclase 2D, retinal gene DOID:9650 pathologic nystagmus ISO RGD:1343485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:17964524|PMID:25741868|PMID:28492532|PMID:33546218 12090138 GUCY2D guanylate cyclase 2D, retinal gene DOID:980 choroidal sclerosis ISO RGD:1343485 D RGD:7240710 20190315 OMIM 12090138 GUCY2D guanylate cyclase 2D, retinal gene DOID:980 choroidal sclerosis ISO RGD:1343485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Choroidal dystrophy, central areolar, 1 PMID:10766140|PMID:10951519|PMID:11035546|PMID:11115851|PMID:11328726|PMID:11565546|PMID:12552567|PMID:15024725|PMID:15175914|PMID:16505055|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18487367|PMID:20050595|PMID:20683928|PMID:22695961|PMID:23035049|PMID:24033266|PMID:25477517|PMID:25741868|PMID:26253563|PMID:26298565|PMID:26626312|PMID:28492532|PMID:29061346|PMID:29559409|PMID:30718709|PMID:31456290|PMID:32865313|PMID:33546218|PMID:34008892|PMID:8554074|PMID:8733141|PMID:8944027|PMID:9536098|PMID:9618177|PMID:9683616 12090160 KCTD20 potassium channel tetramerization domain containing 20 gene DOID:0050553 JMP syndrome ISO RGD:1320472 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12090160 KCTD20 potassium channel tetramerization domain containing 20 gene DOID:630 genetic disease ISO RGD:1320472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090180 VPS51 VPS51 subunit of GARP complex gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1351540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12090180 VPS51 VPS51 subunit of GARP complex gene DOID:0112332 pontocerebellar hypoplasia type 13 ISO RGD:1351540 D RGD:7240710 20191030 OMIM 12090180 VPS51 VPS51 subunit of GARP complex gene DOID:0112332 pontocerebellar hypoplasia type 13 ISO RGD:1351540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 13 PMID:25741868|PMID:30624672|PMID:31207318 12090180 VPS51 VPS51 subunit of GARP complex gene DOID:1059 intellectual disability ISO RGD:1351540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12090180 VPS51 VPS51 subunit of GARP complex gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1351540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12090180 VPS51 VPS51 subunit of GARP complex gene DOID:2746 glycogen storage disease V ISO RGD:1351540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12090180 VPS51 VPS51 subunit of GARP complex gene DOID:3070 high grade glioma ISO RGD:1351540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12090180 VPS51 VPS51 subunit of GARP complex gene DOID:630 genetic disease ISO RGD:1351540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090194 ZNF304 zinc finger protein 304 gene DOID:10283 prostate cancer ISO RGD:1352206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12090194 ZNF304 zinc finger protein 304 gene DOID:630 genetic disease ISO RGD:1352206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090201 THSD1 thrombospondin type 1 domain containing 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1315930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12090201 THSD1 thrombospondin type 1 domain containing 1 gene DOID:0080975 intracranial berry aneurysm 12 ISO RGD:1315930 D RGD:7240710 20200226 OMIM 12090201 THSD1 thrombospondin type 1 domain containing 1 gene DOID:0080975 intracranial berry aneurysm 12 ISO RGD:1315930 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aneurysm, intracranial berry, 12 PMID:25741868|PMID:27895300 12090201 THSD1 thrombospondin type 1 domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1315930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12090201 THSD1 thrombospondin type 1 domain containing 1 gene DOID:3627 aortic aneurysm ISO RGD:1315930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm PMID:25741868|PMID:27895300 12090201 THSD1 thrombospondin type 1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1315930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090201 THSD1 thrombospondin type 1 domain containing 1 gene DOID:8725 vascular dementia ISO RGD:1315930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 12090201 THSD1 thrombospondin type 1 domain containing 1 gene DOID:9008230 Lymphatic Malformation 13 ISO RGD:1315930 D RGD:7240710 20230215 OMIM 12090201 THSD1 thrombospondin type 1 domain containing 1 gene DOID:9008230 Lymphatic Malformation 13 ISO RGD:1315930 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 13 PMID:26036949|PMID:28749478|PMID:30055085|PMID:33569873 12090201 THSD1 thrombospondin type 1 domain containing 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1315930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 12090212 HERC3 HECT and RLD domain containing E3 ubiquitin protein ligase 3 gene DOID:630 genetic disease ISO RGD:1351757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090212 HERC3 HECT and RLD domain containing E3 ubiquitin protein ligase 3 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1351757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12090212 HERC3 HECT and RLD domain containing E3 ubiquitin protein ligase 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1351757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12090255 ECI2 enoyl-CoA delta isomerase 2 gene DOID:630 genetic disease ISO RGD:1607074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090269 ADAMTSL3 ADAMTS like 3 gene DOID:13938 amenorrhea ISO RGD:1313018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12090269 ADAMTSL3 ADAMTS like 3 gene DOID:1749 squamous cell carcinoma ISO RGD:1313018 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 12090269 ADAMTSL3 ADAMTS like 3 gene DOID:2717 Bloom syndrome ISO RGD:1313018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12090269 ADAMTSL3 ADAMTS like 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1313018 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 12090269 ADAMTSL3 ADAMTS like 3 gene DOID:630 genetic disease ISO RGD:1313018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090269 ADAMTSL3 ADAMTS like 3 gene DOID:9256 colorectal cancer ISO RGD:1313018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12090312 PIGL phosphatidylinositol glycan anchor biosynthesis class L gene DOID:0112152 CHIME syndrome ISO RGD:1342664 D RGD:7240710 20180130 OMIM 12090312 PIGL phosphatidylinositol glycan anchor biosynthesis class L gene DOID:0112152 CHIME syndrome ISO RGD:1342664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHIME syndrome | ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 5 | ClinVar Annotator: match by term: Zunich neuroectodermal syndrome PMID:18414213|PMID:22444671|PMID:23561846|PMID:24784135|PMID:25250048|PMID:25741868|PMID:28371479|PMID:28492532|PMID:29473937|PMID:30023290|PMID:3041916|PMID:31535386|PMID:7666399|PMID:8893234 12090312 PIGL phosphatidylinositol glycan anchor biosynthesis class L gene DOID:630 genetic disease ISO RGD:1342664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:22444671|PMID:23561846|PMID:24784135|PMID:25250048|PMID:25741868|PMID:28371479|PMID:28492532|PMID:29473937|PMID:3041916|PMID:31535386|PMID:7666399|PMID:8893234 12090312 PIGL phosphatidylinositol glycan anchor biosynthesis class L gene DOID:9002100 Hyperphosphatasia with Mental Retardation Syndrome 1 ISO RGD:1342664 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 12090312 PIGL phosphatidylinositol glycan anchor biosynthesis class L gene DOID:9003133 Hypertelorism ISO RGD:1342664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:18414213|PMID:22444671|PMID:23561846|PMID:24784135|PMID:25250048|PMID:25741868|PMID:28371479|PMID:28492532|PMID:29473937|PMID:3041916|PMID:31535386|PMID:7666399|PMID:8893234 12090312 PIGL phosphatidylinositol glycan anchor biosynthesis class L gene DOID:9003507 Premature Birth ISO RGD:1342664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Premature birth PMID:18414213|PMID:22444671|PMID:23561846|PMID:24784135|PMID:25250048|PMID:25741868|PMID:28371479|PMID:28492532|PMID:29473937|PMID:3041916|PMID:31535386|PMID:7666399|PMID:8893234 12090330 GNB2 G protein subunit beta 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12090330 GNB2 G protein subunit beta 2 gene DOID:630 genetic disease ISO RGD:733685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090330 GNB2 G protein subunit beta 2 gene DOID:9001288 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES ISO RGD:733685 D RGD:7240710 20211027 OMIM 12090330 GNB2 G protein subunit beta 2 gene DOID:9001288 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES ISO RGD:733685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and dysmorphic facies PMID:25741868|PMID:31698099|PMID:33971351|PMID:34183358 12090330 GNB2 G protein subunit beta 2 gene DOID:9002070 Sick Sinus Syndrome 4 ISO RGD:733685 D RGD:7240710 20210818 OMIM 12090330 GNB2 G protein subunit beta 2 gene DOID:9002070 Sick Sinus Syndrome 4 ISO RGD:733685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GNB2-related condition | ClinVar Annotator: match by term: Sick sinus syndrome 4 PMID:25741868|PMID:28219978|PMID:31698099|PMID:34183358 12090330 GNB2 G protein subunit beta 2 gene DOID:9005897 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES ISO RGD:733685 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES PMID:25741868 12090330 GNB2 G protein subunit beta 2 gene DOID:9008086 Developmental Disabilities ISO RGD:733685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33971351 12090330 GNB2 G protein subunit beta 2 gene DOID:9009182 Developmental Delay with or without Dysmorphic Facies and Autism ISO RGD:733685 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay with or without dysmorphic facies and autism PMID:25741868 12090351 SYAP1 synapse associated protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12090351 SYAP1 synapse associated protein 1 gene DOID:12849 autistic disorder ISO RGD:1353710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12090351 SYAP1 synapse associated protein 1 gene DOID:630 genetic disease ISO RGD:1353710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090351 SYAP1 synapse associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12090364 MGAT3 beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1343088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12090364 MGAT3 beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:1343088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090379 FBN2 fibrillin 2 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:25741868|PMID:28492532 12090379 FBN2 fibrillin 2 gene DOID:0050646 distal arthrogryposis ISO RGD:733429 D RGD:9068941 20220825 MouseDO OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065 12090379 FBN2 fibrillin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733428 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12090379 FBN2 fibrillin 2 gene DOID:0060249 scoliosis ISO RGD:733428 D RGD:9068941 20200609 RGD DNA:frameshift mutation, missense mutations:exon:multiple PMID:24833718|REF_RGD_ID:12910484 12090379 FBN2 fibrillin 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733428 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12090379 FBN2 fibrillin 2 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25558065 12090379 FBN2 fibrillin 2 gene DOID:0111595 congenital contractural arachnodactyly ISO RGD:733428 D RGD:7240710 20180130 OMIM 12090379 FBN2 fibrillin 2 gene DOID:0111595 congenital contractural arachnodactyly ISO RGD:733428 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Contractures, multiple with arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis PMID:10797416|PMID:11285249|PMID:11470817|PMID:11754102|PMID:15121784|PMID:16199547|PMID:16531736|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:20301560|PMID:20799338|PMID:22325249|PMID:22438950|PMID:23148498|PMID:24033266|PMID:24585410|PMID:24833718|PMID:24899048|PMID:25046119|PMID:25326635|PMID:25326637|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:27196565|PMID:28166811|PMID:28383543|PMID:28492532|PMID:28831199|PMID:29501612|PMID:29907982|PMID:29926239|PMID:30029678|PMID:30675029|PMID:31096651|PMID:31316167|PMID:31506931|PMID:32123317|PMID:32277046|PMID:32534992|PMID:32702406|PMID:33340101|PMID:33435129|PMID:33571691|PMID:33638605|PMID:33895855|PMID:34008892|PMID:3495735|PMID:4750422|PMID:7493032|PMID:7633409|PMID:8653794|PMID:8900230|PMID:9106527|PMID:9199560|PMID:9536098|PMID:9605585|PMID:9737771 12090379 FBN2 fibrillin 2 gene DOID:0111603 distal arthrogryposis type 7 ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome PMID:11754102|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:22325249|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:28166811|PMID:28492532|PMID:29926239|PMID:34008892|PMID:3495735|PMID:4750422|PMID:8653794|PMID:9536098 12090379 FBN2 fibrillin 2 gene DOID:0111603 distal arthrogryposis type 7 ISO RGD:733428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome PMID:11754102|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:22325249|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:28166811|PMID:28492532|PMID:28831199|PMID:29907982|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:33435129|PMID:34008892|PMID:3495735|PMID:4750422|PMID:8653794|PMID:9536098 12090379 FBN2 fibrillin 2 gene DOID:10283 prostate cancer ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12090379 FBN2 fibrillin 2 gene DOID:10941 intracranial aneurysm ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain aneurysm PMID:16835936|PMID:19006240|PMID:25525159|PMID:25741868|PMID:26038974|PMID:28492532 12090379 FBN2 fibrillin 2 gene DOID:11193 syndactyly ISO RGD:733429 D RGD:9068941 20200609 RGD PMID:11285249|REF_RGD_ID:1300320 12090379 FBN2 fibrillin 2 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:733428 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:16835936|PMID:17345643|PMID:17935258|PMID:18414213|PMID:19006240|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26038974|PMID:26257771|PMID:28492532|PMID:28831199|PMID:31096651|PMID:32534992|PMID:33435129 12090379 FBN2 fibrillin 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11536364|PMID:11754102|PMID:12511552|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:22325249|PMID:23148498|PMID:24033266|PMID:24035709|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:27625873|PMID:28166811|PMID:28492532|PMID:28831199|PMID:29907982|PMID:29910053|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:31506931|PMID:33435129|PMID:34008892|PMID:3495735|PMID:4750422|PMID:7606779|PMID:8653794|PMID:8900230|PMID:9054436|PMID:9536098 12090379 FBN2 fibrillin 2 gene DOID:14323 Marfan syndrome ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532|PMID:29501612 12090379 FBN2 fibrillin 2 gene DOID:2340 craniosynostosis ISO RGD:733428 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Craniosynostosis PMID:25741868|PMID:28492532 12090379 FBN2 fibrillin 2 gene DOID:520 aortic disease ISO RGD:733428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial aortopathy 12090379 FBN2 fibrillin 2 gene DOID:630 genetic disease ISO RGD:733428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10797416|PMID:11754102|PMID:16531736|PMID:19006240|PMID:24899048|PMID:25741868|PMID:28383543|PMID:28492532|PMID:8653794|PMID:8900230 12090379 FBN2 fibrillin 2 gene DOID:65 connective tissue disease ISO RGD:733428 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:16835936|PMID:17345643|PMID:17935258|PMID:18414213|PMID:19006240|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:28492532|PMID:33435129 12090379 FBN2 fibrillin 2 gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arterial dissection 12090379 FBN2 fibrillin 2 gene DOID:9002189 High Myopia ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12090379 FBN2 fibrillin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 12090379 FBN2 fibrillin 2 gene DOID:9006437 Macular Degeneration, Early-Onset ISO RGD:733428 D RGD:7240710 20180130 OMIM 12090379 FBN2 fibrillin 2 gene DOID:9006437 Macular Degeneration, Early-Onset ISO RGD:733428 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Macular degeneration, early-onset PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:19006240|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:26038974|PMID:26133393|PMID:26257771|PMID:28166811|PMID:28492532|PMID:28831199|PMID:29926239|PMID:31096651|PMID:9536098 12090379 FBN2 fibrillin 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12090379 FBN2 fibrillin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733428 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12090379 FBN2 fibrillin 2 gene DOID:9008086 Developmental Disabilities ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:30311386 12090379 FBN2 fibrillin 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:733428 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:28492532 12090379 FBN2 fibrillin 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 12090379 FBN2 fibrillin 2 gene DOID:9009005 Familial Thoracic Aortic Aneurysm 2 ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 12090451 SMC2 structural maintenance of chromosomes 2 gene DOID:1059 intellectual disability ISO RGD:1313128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12090451 SMC2 structural maintenance of chromosomes 2 gene DOID:234 colon adenocarcinoma severity ISO RGD:1313128 D RGD:9068941 20220224 RGD human cell line in a mouse model PMID:23095742|REF_RGD_ID:151356955 12090451 SMC2 structural maintenance of chromosomes 2 gene DOID:630 genetic disease ISO RGD:1313128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090451 SMC2 structural maintenance of chromosomes 2 gene DOID:9000027 Microsatellite Instability ISO RGD:1313128 D RGD:9068941 20220224 RGD assoc. w/gastric cancer;DNA:frameshift mutations:exon 6, exon 17:K188fsX5, T751fsX9 (human) PMID:24483990|REF_RGD_ID:151356954 12090451 SMC2 structural maintenance of chromosomes 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12090451 SMC2 structural maintenance of chromosomes 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1313128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12090451 SMC2 structural maintenance of chromosomes 2 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1313128 D RGD:9068941 20220224 RGD mRNA:decreased expression:colorectum (human) PMID:31357676|REF_RGD_ID:151356956 12090492 MYO7B myosin VIIB gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1352567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:28492532 12090492 MYO7B myosin VIIB gene DOID:0111220 centronuclear myopathy 2 ISO RGD:1352567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 12090492 MYO7B myosin VIIB gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1352567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 12090492 MYO7B myosin VIIB gene DOID:630 genetic disease ISO RGD:1352567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090555 STX11 syntaxin 11 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1312365 D RGD:7240710 20180130 OMIM 12090555 STX11 syntaxin 11 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1312365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:15703195|PMID:16582076|PMID:17525286|PMID:20486178|PMID:24033266|PMID:24459464|PMID:24524345|PMID:24916509|PMID:25741868|PMID:26004995|PMID:26176172|PMID:28492532|PMID:28750028|PMID:29113160|PMID:29665027|PMID:30899265 12090555 STX11 syntaxin 11 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1312365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:15703195 12090555 STX11 syntaxin 11 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1312365 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:24524345|PMID:25741868|PMID:28492532 12090555 STX11 syntaxin 11 gene DOID:630 genetic disease ISO RGD:1312365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12090555 STX11 syntaxin 11 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1312365 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12090555 STX11 syntaxin 11 gene DOID:9004404 Familial Hemophagocytic Lymphohistiocytoses ISO RGD:1312365 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis PMID:20486178|PMID:24033266|PMID:25741868|PMID:28492532 12090566 FBXL2 F-box and leucine rich repeat protein 2 gene DOID:630 genetic disease ISO RGD:736852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090586 ARSJ arylsulfatase family member J gene DOID:12271 aniridia ISO RGD:1606235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 12090586 ARSJ arylsulfatase family member J gene DOID:630 genetic disease ISO RGD:1606235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090590 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:1346223 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1 PMID:28492532|PMID:29503925 12090590 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:0110723 neuronal ceroid lipofuscinosis 8 IAGP D RGD:12801476 20211103 OMIA Neuronal ceroid lipofuscinosis, 8 PMID:2350897|PMID:1609842|PMID:1609843|PMID:8144584|PMID:7942092|PMID:7668343|PMID:7668347|PMID:7668340|PMID:9590435|PMID:9690741|PMID:9800325|PMID:15629147|PMID:3146311|PMID:11588988|PMID:3146315|PMID:11332773|PMID:23338040|PMID:20487751|PMID:7350137|PMID:6681808|PMID:6321656|PMID:1609837|PMID:8821336|PMID:9474321|PMID:11850114|PMID:24953404|PMID:28024876|PMID:28860089|PMID:29446145|PMID:31687336|PMID:32219101|PMID:33769611 12090590 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:0110723 neuronal ceroid lipofuscinosis 8 ISO RGD:1346223 D RGD:7240710 20180130 OMIM 12090590 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:0110723 neuronal ceroid lipofuscinosis 8 ISO RGD:1346223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15074367|PMID:15160397|PMID:16570191|PMID:16828266|PMID:19201763|PMID:19431184|PMID:19807737|PMID:20301601|PMID:21990111|PMID:22220808|PMID:23374165|PMID:24767253|PMID:25326637|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26443629|PMID:26467025|PMID:26657971|PMID:27553520|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:29915382|PMID:29961513|PMID:30397314|PMID:30741402|PMID:30919163|PMID:31130284|PMID:31741823 12090590 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:0110724 neuronal ceroid lipofuscinosis 8 northern epilepsy variant ISO RGD:1346223 D RGD:7240710 20181017 OMIM 12090590 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:0110724 neuronal ceroid lipofuscinosis 8 northern epilepsy variant ISO RGD:1346223 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 northern epilepsy variant PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15074367|PMID:15160397|PMID:16570191|PMID:16828266|PMID:19431184|PMID:19807737|PMID:20301601|PMID:21990111|PMID:23374165|PMID:25326637|PMID:25741868|PMID:26075876|PMID:26467025|PMID:27884173|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:29961513|PMID:31741823 12090590 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:1059 intellectual disability ISO RGD:1346223 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21990111|PMID:25741868|PMID:26467025|PMID:28454995|PMID:28492532|PMID:29961513|PMID:31741823 12090590 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15074367|PMID:15160397|PMID:16570191|PMID:16828266|PMID:18414213|PMID:19431184|PMID:19807737|PMID:2199011|PMID:21990111|PMID:22220808|PMID:23374165|PMID:24767253|PMID:25326637|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:26657971|PMID:27553520|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:30741402|PMID:30919163 12090590 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346223 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15074367|PMID:15160397|PMID:16570191|PMID:16828266|PMID:18414213|PMID:19431184|PMID:19807737|PMID:2199011|PMID:21990111|PMID:22220808|PMID:23374165|PMID:24767253|PMID:25326637|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:26657971|PMID:27553520|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:29961513|PMID:30741402|PMID:30919163|PMID:31741823 12090590 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15074367|PMID:15160397|PMID:16570191|PMID:16828266|PMID:17576681|PMID:18414213|PMID:19201763|PMID:19431184|PMID:19807737|PMID:20301601|PMID:21990111|PMID:22220808|PMID:23374165|PMID:24767253|PMID:25326637|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26443629|PMID:26467025|PMID:26657971|PMID:27553520|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:29915382|PMID:29961513|PMID:30397314|PMID:30741402|PMID:30919163|PMID:31130284|PMID:31741823|PMID:33358637|PMID:9536098 12090590 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:1826 epilepsy ISO RGD:1346223 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:21990111|PMID:25741868|PMID:26467025|PMID:26657971|PMID:28454995|PMID:28492532|PMID:29503925 12090590 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:1826 epilepsy ISO RGD:1346223 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:21990111|PMID:25741868|PMID:26467025|PMID:26657971|PMID:28454995|PMID:28492532|PMID:29503925|PMID:29961513|PMID:31741823 12090590 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:1826 epilepsy ISO RGD:1346223 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:26443629|PMID:28492532 12090590 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:3529 central core disease ISO RGD:1346223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:21990111|PMID:25741868|PMID:26467025|PMID:28492532 12090590 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:630 genetic disease ISO RGD:1346223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10508524|PMID:10861296|PMID:15024724|PMID:16570191|PMID:19431184|PMID:21990111|PMID:22220808|PMID:25741868|PMID:26075876|PMID:26443629|PMID:26467025|PMID:26657971|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:29961513|PMID:31130284|PMID:31741823 12090590 CLN8 CLN8 transmembrane ER and ERGIC protein gene DOID:9006205 Animal Disease Models ISO RGD:1346223 D RGD:9068941 20211015 CTD CTD Direct Evidence: marker/mechanism PMID:22302580 12090602 ZBTB49 zinc finger and BTB domain containing 49 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1315520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12090602 ZBTB49 zinc finger and BTB domain containing 49 gene DOID:630 genetic disease ISO RGD:1315520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090627 OIT3 oncoprotein induced transcript 3 gene DOID:10283 prostate cancer ISO RGD:1345970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12090627 OIT3 oncoprotein induced transcript 3 gene DOID:630 genetic disease ISO RGD:1345970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090627 OIT3 oncoprotein induced transcript 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1345970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12090641 PARS2 prolyl-tRNA synthetase 2, mitochondrial gene DOID:0112211 developmental and epileptic encephalopathy 75 ISO RGD:1603670 D RGD:7240710 20190612 OMIM 12090641 PARS2 prolyl-tRNA synthetase 2, mitochondrial gene DOID:0112211 developmental and epileptic encephalopathy 75 ISO RGD:1603670 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 75 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75 PMID:22237560|PMID:25629079|PMID:25705216|PMID:25741868|PMID:27290639|PMID:27348859|PMID:28077841|PMID:28492532|PMID:29410512|PMID:29915213|PMID:30237576|PMID:31130284|PMID:31487502|PMID:32071833|PMID:32514400|PMID:32533790 12090641 PARS2 prolyl-tRNA synthetase 2, mitochondrial gene DOID:2661 myoepithelioma ISO RGD:1603670 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12090641 PARS2 prolyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1603670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10447505|PMID:25629079|PMID:25705216|PMID:25741868|PMID:27290639|PMID:27348859|PMID:28492532|PMID:29410512|PMID:29915213|PMID:30237576|PMID:31487502|PMID:32071833|PMID:32514400 12090655 FCMR Fc mu receptor gene DOID:0050589 inflammatory bowel disease ISO RGD:1603318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 12090655 FCMR Fc mu receptor gene DOID:0080600 COVID-19 ISO RGD:1603318 D RGD:9068941 20200709 RGD mRNA:decreased expression:memory B cells (human) PMID:32377375|REF_RGD_ID:32716422 12090655 FCMR Fc mu receptor gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1603318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 12090655 FCMR Fc mu receptor gene DOID:12849 autistic disorder ISO RGD:1603318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12090655 FCMR Fc mu receptor gene DOID:1540 parathyroid carcinoma ISO RGD:1603318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12090655 FCMR Fc mu receptor gene DOID:630 genetic disease ISO RGD:1603318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090655 FCMR Fc mu receptor gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1603318 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12090655 FCMR Fc mu receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12090655 FCMR Fc mu receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12090670 DERL2 derlin 2 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1344289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 12090670 DERL2 derlin 2 gene DOID:630 genetic disease ISO RGD:1344289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090693 ANGPT2 angiopoietin 2 gene DOID:0001816 angiosarcoma ISO RGD:730844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 12090693 ANGPT2 angiopoietin 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:730844 D RGD:9068941 20220811 RGD protein:increased expression:oral mucosa (human) PMID:26044849|REF_RGD_ID:153323290 12090693 ANGPT2 angiopoietin 2 gene DOID:0050876 Caroli disease ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:bile duct (rat) PMID:16628643|REF_RGD_ID:2314213 12090693 ANGPT2 angiopoietin 2 gene DOID:0070285 primary autosomal recessive microcephaly 1 ISO RGD:730844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32714618 12090693 ANGPT2 angiopoietin 2 gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:730844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary microcephaly PMID:25741868|PMID:28492532 12090693 ANGPT2 angiopoietin 2 gene DOID:0080600 COVID-19 severity ISO RGD:730844 D RGD:9068941 20200626 RGD protein:increased expression:plasma (human) PMID:32458111|REF_RGD_ID:32716385 12090693 ANGPT2 angiopoietin 2 gene DOID:1059 intellectual disability ISO RGD:730844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12090693 ANGPT2 angiopoietin 2 gene DOID:10762 portal hypertension ISO RGD:621861 D RGD:9068941 20200609 RGD PMID:19070926|REF_RGD_ID:2314171 12090693 ANGPT2 angiopoietin 2 gene DOID:10808 gastric ulcer ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:stomach (rat) PMID:12768384|REF_RGD_ID:1601496 12090693 ANGPT2 angiopoietin 2 gene DOID:13025 retinopathy of prematurity ISO RGD:1550503 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (mouse) PMID:17065527|REF_RGD_ID:2314207 12090693 ANGPT2 angiopoietin 2 gene DOID:13025 retinopathy of prematurity ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:17692314|REF_RGD_ID:2314205 12090693 ANGPT2 angiopoietin 2 gene DOID:13025 retinopathy of prematurity susceptibility ISO RGD:621861 D RGD:9068941 20200609 RGD PMID:17692314|REF_RGD_ID:2314205 12090693 ANGPT2 angiopoietin 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus (rat) PMID:16628643|REF_RGD_ID:2314213 12090693 ANGPT2 angiopoietin 2 gene DOID:2316 brain ischemia ISO RGD:621861 D RGD:9068941 20200609 RGD PMID:17494864|REF_RGD_ID:2314206 12090693 ANGPT2 angiopoietin 2 gene DOID:2527 nephrosis ISO RGD:621861 D RGD:9068941 20200609 RGD PMID:18929866|REF_RGD_ID:2314177 12090693 ANGPT2 angiopoietin 2 gene DOID:2527 nephrosis ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:18929864|REF_RGD_ID:2314178 12090693 ANGPT2 angiopoietin 2 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:730844 D RGD:9068941 20200609 RGD PMID:15705099|REF_RGD_ID:2293853 12090693 ANGPT2 angiopoietin 2 gene DOID:2870 endometrial adenocarcinoma ISO RGD:730844 D RGD:9068941 20200609 RGD protein:increased expression:endometrium epithelium PMID:17295646|REF_RGD_ID:2293852 12090693 ANGPT2 angiopoietin 2 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:621861 D RGD:9068941 20200609 RGD PMID:16014048|REF_RGD_ID:2314222 12090693 ANGPT2 angiopoietin 2 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus (rat) PMID:18272601|REF_RGD_ID:2314193 12090693 ANGPT2 angiopoietin 2 gene DOID:299 adenocarcinoma ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:cerebrum, blood vessels (rat) PMID:10373119|REF_RGD_ID:2314294 12090693 ANGPT2 angiopoietin 2 gene DOID:3070 high grade glioma ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:18615861|REF_RGD_ID:2314189 12090693 ANGPT2 angiopoietin 2 gene DOID:3247 rhabdomyosarcoma ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:blood vessel (rat) PMID:17849463|REF_RGD_ID:2314204 12090693 ANGPT2 angiopoietin 2 gene DOID:326 ischemia ISO RGD:621861 D RGD:9068941 20200609 RGD PMID:19672036|REF_RGD_ID:2313934 12090693 ANGPT2 angiopoietin 2 gene DOID:4762 vasculogenic impotence ISO RGD:621861 D RGD:9068941 20200609 RGD associated with Hypercholesterolemia; mRNA, protein:decreased expression:cavernous body of penis (rat) PMID:16750245|REF_RGD_ID:2314210 12090693 ANGPT2 angiopoietin 2 gene DOID:5844 myocardial infarction ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:left ventricular wall, heart septum (rat) PMID:16714360|REF_RGD_ID:1601493 12090693 ANGPT2 angiopoietin 2 gene DOID:630 genetic disease ISO RGD:730844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 12090693 ANGPT2 angiopoietin 2 gene DOID:6432 pulmonary hypertension ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:pulmonary artery (rat) PMID:19712575|REF_RGD_ID:2314185 12090693 ANGPT2 angiopoietin 2 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:bile duct (rat) PMID:16628643|REF_RGD_ID:2314213 12090693 ANGPT2 angiopoietin 2 gene DOID:9000037 Lymphatic Malformation 10 ISO RGD:730844 D RGD:7240710 20210616 OMIM 12090693 ANGPT2 angiopoietin 2 gene DOID:9000037 Lymphatic Malformation 10 ISO RGD:730844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 10 PMID:32908006 12090693 ANGPT2 angiopoietin 2 gene DOID:9000888 Pregnancy in Diabetics ISO RGD:730844 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:plasma PMID:15209761|REF_RGD_ID:2313816 12090693 ANGPT2 angiopoietin 2 gene DOID:9001285 Alcoholic Liver Diseases severity ISO RGD:730844 D RGD:9068941 20200609 RGD PMID:24959006|REF_RGD_ID:15014784 12090693 ANGPT2 angiopoietin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:multiple organs (rat) PMID:18978178|REF_RGD_ID:2314174 12090693 ANGPT2 angiopoietin 2 gene DOID:9005605 Arteriovenous Fistula ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:18692629|REF_RGD_ID:2314184 12090693 ANGPT2 angiopoietin 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:15047628|REF_RGD_ID:2313817 12090693 ANGPT2 angiopoietin 2 gene DOID:9005749 Necrosis ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, stellate cell, macrophage (rat) PMID:15135347|REF_RGD_ID:2314239 12090693 ANGPT2 angiopoietin 2 gene DOID:9007096 Stroke ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (rat) PMID:15637314|REF_RGD_ID:1626166 12090693 ANGPT2 angiopoietin 2 gene DOID:9007661 Dwarfism ISO RGD:730844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:26467025|PMID:28492532|PMID:32714618 12090693 ANGPT2 angiopoietin 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium (rat) PMID:12737621|REF_RGD_ID:1601505 12090693 ANGPT2 angiopoietin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730844 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15823283|REF_RGD_ID:2313815 12090693 Angpt2 angiopoietin 2 gene DOID:4676 uremia ISO RGD:621861 D RGD:9068941 20200609 RGD PMID:18751736|REF_RGD_ID:2314180 12090693 Angpt2 angiopoietin 2 gene DOID:8947 diabetic retinopathy ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:16520919|REF_RGD_ID:2314216 12090718 SP7 Sp7 transcription factor gene DOID:0110348 osteogenesis imperfecta type 12 ISO RGD:736995 D RGD:7240710 20180130 OMIM 12090718 SP7 Sp7 transcription factor gene DOID:0110348 osteogenesis imperfecta type 12 ISO RGD:736995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 12 PMID:20579626|PMID:25741868|PMID:28492532|PMID:29382611 12090718 SP7 Sp7 transcription factor gene DOID:12347 osteogenesis imperfecta ISO RGD:736995 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532 12090718 SP7 Sp7 transcription factor gene DOID:1712 aortic valve stenosis severity ISO RGD:736995 D RGD:9068941 20230420 RGD PMID:23578508|REF_RGD_ID:267010069 12090718 SP7 Sp7 transcription factor gene DOID:630 genetic disease ISO RGD:736995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12090725 GPR25 G protein-coupled receptor 25 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1323161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12090725 GPR25 G protein-coupled receptor 25 gene DOID:1540 parathyroid carcinoma ISO RGD:1323161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12090725 GPR25 G protein-coupled receptor 25 gene DOID:630 genetic disease ISO RGD:1323161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090725 GPR25 G protein-coupled receptor 25 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1323161 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12090725 GPR25 G protein-coupled receptor 25 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12090730 UIMC1 ubiquitin interaction motif containing 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1601999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12090730 UIMC1 ubiquitin interaction motif containing 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1601999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12090730 UIMC1 ubiquitin interaction motif containing 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1601999 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 12090730 UIMC1 ubiquitin interaction motif containing 1 gene DOID:630 genetic disease ISO RGD:1601999 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090730 UIMC1 ubiquitin interaction motif containing 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1601999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12090730 UIMC1 ubiquitin interaction motif containing 1 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1601999 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 12090757 ZNF613 zinc finger protein 613 gene DOID:630 genetic disease ISO RGD:1346771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090769 IGLON5 IgLON family member 5 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:2302828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:16510302|PMID:23785301|PMID:28492532 12090769 IGLON5 IgLON family member 5 gene DOID:630 genetic disease ISO RGD:2302828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090780 GARIN3 golgi associated RAB2B interactor family member 3 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1606142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 12090780 GARIN3 golgi associated RAB2B interactor family member 3 gene DOID:630 genetic disease ISO RGD:1606142 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090792 ZNF280B zinc finger protein 280B gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1348223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 12090792 ZNF280B zinc finger protein 280B gene DOID:11198 DiGeorge syndrome ISO RGD:1348223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 12090792 ZNF280B zinc finger protein 280B gene DOID:630 genetic disease ISO RGD:1348223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090798 ENKD1 enkurin domain containing 1 gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1353138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 12090798 ENKD1 enkurin domain containing 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1353138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12090798 ENKD1 enkurin domain containing 1 gene DOID:630 genetic disease ISO RGD:1353138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090809 NOC3L NOC3 like DNA replication regulator gene DOID:0080382 nephrotic syndrome type 3 ISO RGD:1316739 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 3 PMID:18975016|PMID:20591883|PMID:23595123|PMID:24130771|PMID:24247120|PMID:25741868|PMID:26668027|PMID:28492532 12090809 NOC3L NOC3 like DNA replication regulator gene DOID:1184 nephrotic syndrome ISO RGD:1316739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 12090809 NOC3L NOC3 like DNA replication regulator gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1316739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868 12090809 NOC3L NOC3 like DNA replication regulator gene DOID:630 genetic disease ISO RGD:1316739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12090843 MIR631 microRNA mir-631 gene DOID:5419 schizophrenia ISO RGD:1602922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12090856 MUCL3 mucin like 3 gene DOID:0050553 JMP syndrome ISO RGD:1346376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12090856 MUCL3 mucin like 3 gene DOID:11372 megacolon ISO RGD:1346376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12090856 MUCL3 mucin like 3 gene DOID:630 genetic disease ISO RGD:1346376 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12090856 MUCL3 mucin like 3 gene DOID:9007425 Diffuse Panbronchiolitis ISO RGD:1346376 D RGD:9068941 20230506 CTD CTD Direct Evidence: marker/mechanism PMID:22152429 12090940 DVL3 dishevelled segment polarity protein 3 gene DOID:0060254 Robinow syndrome ISO RGD:1318833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12090940 DVL3 dishevelled segment polarity protein 3 gene DOID:0060765 autosomal dominant Robinow syndrome 2 ISO RGD:1318833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 PMID:23806086|PMID:24088041|PMID:25741868|PMID:26924530|PMID:29276006 12090940 DVL3 dishevelled segment polarity protein 3 gene DOID:0060766 autosomal dominant Robinow syndrome 1 ISO RGD:1318833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 PMID:23806086|PMID:24088041|PMID:25741868|PMID:26924530 12090940 DVL3 dishevelled segment polarity protein 3 gene DOID:0060767 autosomal dominant Robinow syndrome 3 ISO RGD:1318833 D RGD:7240710 20190315 OMIM 12090940 DVL3 dishevelled segment polarity protein 3 gene DOID:0060767 autosomal dominant Robinow syndrome 3 ISO RGD:1318833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 PMID:23806086|PMID:24088041|PMID:25741868|PMID:26924530|PMID:28492532 12090940 DVL3 dishevelled segment polarity protein 3 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1318833 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12090940 DVL3 dishevelled segment polarity protein 3 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1318833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12090940 DVL3 dishevelled segment polarity protein 3 gene DOID:0111546 Currarino syndrome ISO RGD:1318833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12090940 DVL3 dishevelled segment polarity protein 3 gene DOID:1324 lung cancer ISO RGD:1318833 D RGD:9068941 20220721 RGD DNA:SNP:intron:rs1969253 (human) PMID:29193083|REF_RGD_ID:153297750 12090940 DVL3 dishevelled segment polarity protein 3 gene DOID:630 genetic disease ISO RGD:1318833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12090940 DVL3 dishevelled segment polarity protein 3 gene DOID:9007661 Dwarfism ISO RGD:1318833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12090963 IL17RC interleukin 17 receptor C gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1314983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 12090963 IL17RC interleukin 17 receptor C gene DOID:2843 long QT syndrome ISO RGD:1314983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12090963 IL17RC interleukin 17 receptor C gene DOID:630 genetic disease ISO RGD:1314983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12090963 IL17RC interleukin 17 receptor C gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1306392 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 12090963 IL17RC interleukin 17 receptor C gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314983 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17603628 12090963 IL17RC interleukin 17 receptor C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12090963 IL17RC interleukin 17 receptor C gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1314983 D RGD:7240710 20180130 OMIM 12090963 IL17RC interleukin 17 receptor C gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1314983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:16199547|PMID:17576681|PMID:25741868|PMID:25918342|PMID:28492532|PMID:9536098 12090963 IL17RC interleukin 17 receptor C gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1314983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12090996 ZAR1 zygote arrest 1 gene DOID:630 genetic disease ISO RGD:1351487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091027 CCL24 C-C motif chemokine ligand 24 gene DOID:0060500 drug allergy ISO RGD:1321033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14616128 12091027 CCL24 C-C motif chemokine ligand 24 gene DOID:1205 allergic disease ISO RGD:1321033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12091027 CCL24 C-C motif chemokine ligand 24 gene DOID:2841 asthma ISO RGD:1321033 D RGD:9068941 20200609 RGD PMID:17548626|REF_RGD_ID:4891484 12091027 CCL24 C-C motif chemokine ligand 24 gene DOID:2841 asthma ISO RGD:1321033 D RGD:9068941 20200609 RGD DNA:SNP: :1265A>G (human) PMID:12761043|REF_RGD_ID:5130932 12091027 CCL24 C-C motif chemokine ligand 24 gene DOID:2841 asthma ISO RGD:1321033 D RGD:9068941 20200609 RGD DNA:SNPs: :304C>A, 1272A>G (human) PMID:18712274|REF_RGD_ID:4891483 12091027 CCL24 C-C motif chemokine ligand 24 gene DOID:2841 asthma ISO RGD:1321033 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16304252|REF_RGD_ID:5130930 12091027 CCL24 C-C motif chemokine ligand 24 gene DOID:2841 asthma ISO RGD:1321033 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:12952266|REF_RGD_ID:4891496 12091027 CCL24 C-C motif chemokine ligand 24 gene DOID:2841 asthma ISO RGD:1321034 D RGD:9068941 20200609 RGD PMID:17060636|REF_RGD_ID:4891485 12091027 CCL24 C-C motif chemokine ligand 24 gene DOID:2841 asthma susceptibility ISO RGD:1321033 D RGD:9068941 20200609 RGD DNA:SNPs: :179T>C, 275C>T (human) PMID:15207712|REF_RGD_ID:4891495 12091027 CCL24 C-C motif chemokine ligand 24 gene DOID:3310 atopic dermatitis ISO RGD:1321033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 12091027 CCL24 C-C motif chemokine ligand 24 gene DOID:4483 rhinitis ISO RGD:1321033 D RGD:9068941 20200609 RGD DNA:SNPs: :179T>C, 275C>T (human) PMID:15580493|REF_RGD_ID:4891493 12091027 CCL24 C-C motif chemokine ligand 24 gene DOID:4483 rhinitis ISO RGD:1321033 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:17982926|REF_RGD_ID:4145109 12091027 CCL24 C-C motif chemokine ligand 24 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12091027 CCL24 C-C motif chemokine ligand 24 gene DOID:552 pneumonia ISO RGD:1321033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12091027 CCL24 C-C motif chemokine ligand 24 gene DOID:630 genetic disease ISO RGD:1321033 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091027 CCL24 C-C motif chemokine ligand 24 gene DOID:8544 chronic fatigue syndrome ISO RGD:1321033 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:26615570|REF_RGD_ID:11538286 12091027 CCL24 C-C motif chemokine ligand 24 gene DOID:9001371 Eosinophilia ISO RGD:1321033 D RGD:9068941 20200609 RGD associated with Sinusitis PMID:19296494|REF_RGD_ID:4891487 12091027 CCL24 C-C motif chemokine ligand 24 gene DOID:9001472 Nasal Polyps ISO RGD:1321033 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:10415058|REF_RGD_ID:4145448 12091027 CCL24 C-C motif chemokine ligand 24 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1321033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12091032 BMT2 base methyltransferase of 25S rRNA 2 homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12091032 BMT2 base methyltransferase of 25S rRNA 2 homolog gene DOID:630 genetic disease ISO RGD:1606951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091032 BMT2 base methyltransferase of 25S rRNA 2 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12091044 SLC6A15 solute carrier family 6 member 15 gene DOID:630 genetic disease ISO RGD:735866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091060 MRPL21 mitochondrial ribosomal protein L21 gene DOID:1059 intellectual disability ISO RGD:1320967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12091060 MRPL21 mitochondrial ribosomal protein L21 gene DOID:630 genetic disease ISO RGD:1320967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091060 MRPL21 mitochondrial ribosomal protein L21 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1320967 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12091060 MRPL21 mitochondrial ribosomal protein L21 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1320967 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12091073 CCDC28A coiled-coil domain containing 28A gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1351078 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12091073 CCDC28A coiled-coil domain containing 28A gene DOID:2661 myoepithelioma ISO RGD:1351078 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12091073 CCDC28A coiled-coil domain containing 28A gene DOID:630 genetic disease ISO RGD:1351078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091083 IL5RA interleukin 5 receptor subunit alpha gene DOID:0080600 COVID-19 ISO RGD:735921 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12091083 IL5RA interleukin 5 receptor subunit alpha gene DOID:0080600 COVID-19 ISO RGD:735921 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12091083 IL5RA interleukin 5 receptor subunit alpha gene DOID:1205 allergic disease ISO RGD:735921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12091083 IL5RA interleukin 5 receptor subunit alpha gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:735921 D RGD:9068941 20200609 RGD protein:decreased expression:blood, eosinophil PMID:16734609|REF_RGD_ID:5128618 12091083 IL5RA interleukin 5 receptor subunit alpha gene DOID:2841 asthma ISO RGD:735921 D RGD:9068941 20200609 RGD PMID:10224351|PMID:20513521|REF_RGD_ID:5128623|REF_RGD_ID:5128625 12091083 IL5RA interleukin 5 receptor subunit alpha gene DOID:2841 asthma ISO RGD:735921 D RGD:9068941 20200609 RGD DNA:SNP: :c.25091G>A (human) PMID:20592918|REF_RGD_ID:5128614 12091083 IL5RA interleukin 5 receptor subunit alpha gene DOID:2841 asthma ISO RGD:735921 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:16217591|REF_RGD_ID:5128626 12091083 IL5RA interleukin 5 receptor subunit alpha gene DOID:2841 asthma ISO RGD:735922 D RGD:9068941 20200609 RGD PMID:10848907|PMID:17276963|REF_RGD_ID:5128617|REF_RGD_ID:5128627 12091083 IL5RA interleukin 5 receptor subunit alpha gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735921 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15286446|REF_RGD_ID:5128619 12091083 IL5RA interleukin 5 receptor subunit alpha gene DOID:350 mastocytosis ISO RGD:735921 D RGD:9068941 20200609 RGD PMID:21762978|REF_RGD_ID:11354970 12091083 IL5RA interleukin 5 receptor subunit alpha gene DOID:552 pneumonia ISO RGD:735921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12091083 IL5RA interleukin 5 receptor subunit alpha gene DOID:630 genetic disease ISO RGD:735921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091083 IL5RA interleukin 5 receptor subunit alpha gene DOID:9001371 Eosinophilia ISO RGD:735921 D RGD:9068941 20200609 RGD PMID:21762978|REF_RGD_ID:11354970 12091083 IL5RA interleukin 5 receptor subunit alpha gene DOID:9001472 Nasal Polyps ISO RGD:735921 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus, serum PMID:12752323|REF_RGD_ID:5128621 12091083 IL5RA interleukin 5 receptor subunit alpha gene DOID:9003281 Spontaneous Abortions ISO RGD:735921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12091083 IL5RA interleukin 5 receptor subunit alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12091099 ACTR5 actin related protein 5 gene DOID:2234 focal epilepsy ISO RGD:1317453 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12091099 ACTR5 actin related protein 5 gene DOID:630 genetic disease ISO RGD:1317453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091116 RSRC2 arginine and serine rich coiled-coil 2 gene DOID:630 genetic disease ISO RGD:1606784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091116 RSRC2 arginine and serine rich coiled-coil 2 gene DOID:9970 obesity ISO RGD:1606784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity 12091142 F13A1 coagulation factor XIII A chain gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:732286 D RGD:9068941 20200609 RGD protein:increased expression:B lymphoblast: PMID:16894461|REF_RGD_ID:11041855 12091142 F13A1 coagulation factor XIII A chain gene DOID:0111477 combined oxidative phosphorylation deficiency 14 ISO RGD:732286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 PMID:22833457|PMID:28492532 12091142 F13A1 coagulation factor XIII A chain gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:732286 D RGD:7240710 20200729 OMIM 12091142 F13A1 coagulation factor XIII A chain gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:732286 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Thrombophilia due to thrombin defect PMID:22995991|PMID:9531026 12091142 F13A1 coagulation factor XIII A chain gene DOID:10808 gastric ulcer ISO RGD:621495 D RGD:9068941 20200609 RGD PMID:11435721|REF_RGD_ID:708325 12091142 F13A1 coagulation factor XIII A chain gene DOID:11247 disseminated intravascular coagulation ISO RGD:732286 D RGD:9068941 20200609 RGD PMID:16642548|REF_RGD_ID:1581020 12091142 F13A1 coagulation factor XIII A chain gene DOID:2211 factor XIII deficiency ISO RGD:732286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary factor XIII deficiency disease PMID:31136071 12091142 F13A1 coagulation factor XIII A chain gene DOID:2213 hemorrhagic disease ISO RGD:732286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 12091142 F13A1 coagulation factor XIII A chain gene DOID:2349 arteriosclerosis ISO RGD:732286 D RGD:9068941 20200609 RGD PMID:11941274|REF_RGD_ID:1581023 12091142 F13A1 coagulation factor XIII A chain gene DOID:2452 thrombophilia ISO RGD:732286 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 12091142 F13A1 coagulation factor XIII A chain gene DOID:3042 allergic contact dermatitis ISO RGD:732286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 12091142 F13A1 coagulation factor XIII A chain gene DOID:5844 myocardial infarction ISO RGD:732286 D RGD:7240710 20230505 OMIM 12091142 F13A1 coagulation factor XIII A chain gene DOID:5844 myocardial infarction ISO RGD:732286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction, protection against PMID:10365735|PMID:10910914|PMID:12072871|PMID:12456499|PMID:17393027|PMID:25741868|PMID:8025280|PMID:9459313|PMID:9550516 12091142 F13A1 coagulation factor XIII A chain gene DOID:630 genetic disease ISO RGD:732286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12091142 F13A1 coagulation factor XIII A chain gene DOID:8778 Crohn's disease ISO RGD:732286 D RGD:9068941 20200609 RGD associated with Fistula;protein:decreased activity:plasma: PMID:7611208|REF_RGD_ID:10450739 12091142 F13A1 coagulation factor XIII A chain gene DOID:8947 diabetic retinopathy ISO RGD:732286 D RGD:9068941 20200609 RGD protein:increased expression:optic choroid vascular plexus: PMID:11375345|REF_RGD_ID:8693344 12091142 F13A1 coagulation factor XIII A chain gene DOID:9000528 Coronary Disease ISO RGD:732286 D RGD:9068941 20200609 RGD PMID:11391716|REF_RGD_ID:1581030 12091142 F13A1 coagulation factor XIII A chain gene DOID:9002676 Cerebral Hemorrhage ISO RGD:732286 D RGD:9068941 20200609 RGD PMID:9550516|REF_RGD_ID:1581027 12091142 F13A1 coagulation factor XIII A chain gene DOID:9003281 Spontaneous Abortions ISO RGD:1550288 D RGD:9068941 20200609 RGD PMID:12933578|REF_RGD_ID:10450744 12091142 F13A1 coagulation factor XIII A chain gene DOID:9003871 Venous Thrombosis ISO RGD:732286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10365735 12091142 F13A1 coagulation factor XIII A chain gene DOID:9003871 Venous Thrombosis ISO RGD:732286 D RGD:9068941 20200609 RGD PMID:9920839|REF_RGD_ID:1581032 12091142 F13A1 coagulation factor XIII A chain gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:732286 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.V34L(human) PMID:12358922|REF_RGD_ID:10450745 12091142 F13A1 coagulation factor XIII A chain gene DOID:9005854 Factor XIII, A Subunit, Deficiency Of ISO RGD:732286 D RGD:7240710 20180130 OMIM 12091142 F13A1 coagulation factor XIII A chain gene DOID:9005854 Factor XIII, A Subunit, Deficiency Of ISO RGD:732286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Factor XIII subunit A deficiency | ClinVar Annotator: match by term: Factor XIII, A subunit, deficiency of PMID:10027709|PMID:10365735|PMID:10910914|PMID:11167856|PMID:11380452|PMID:11692020|PMID:12072871|PMID:12100162|PMID:12456499|PMID:12801297|PMID:1353995|PMID:14695539|PMID:16543965|PMID:16763156|PMID:17393027|PMID:17549292|PMID:17880458|PMID:19438481|PMID:20179087|PMID:21512576|PMID:21633364|PMID:21812861|PMID:22995991|PMID:24118344|PMID:24194833|PMID:25741868|PMID:26503545|PMID:26852661|PMID:28492532|PMID:28520207|PMID:31064749|PMID:33114181|PMID:7236530|PMID:7727776|PMID:7918041|PMID:8025280|PMID:8130686|PMID:8547636|PMID:8584988|PMID:9459313|PMID:9531026|PMID:9531593|PMID:9550516|PMID:9657440|PMID:9712293|PMID:9827915|PMID:9920838 12091142 F13A1 coagulation factor XIII A chain gene DOID:9006889 Uterine Hemorrhage ISO RGD:1550288 D RGD:9068941 20200609 RGD PMID:12933578|REF_RGD_ID:10450744 12091142 F13A1 coagulation factor XIII A chain gene DOID:9007096 Stroke ISO RGD:732286 D RGD:9068941 20200609 RGD PMID:11692020|REF_RGD_ID:1581026 12091142 F13A1 coagulation factor XIII A chain gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1550288 D RGD:9068941 20200609 RGD PMID:22019897|REF_RGD_ID:11041813 12091142 F13A1 coagulation factor XIII A chain gene DOID:9008217 Hemorrhage ISO RGD:1550288 D RGD:9068941 20200609 RGD PMID:12529747|REF_RGD_ID:11041809 12091142 F13A1 coagulation factor XIII A chain gene DOID:9286 priapism susceptibility ISO RGD:732286 D RGD:9068941 20200609 RGD associated with sickle cell anemia;DNA:SNPs::multiple(human) PMID:17408468|REF_RGD_ID:10450728 12091142 F13A1 coagulation factor XIII A chain gene DOID:9477 pulmonary embolism ISO RGD:732286 D RGD:9068941 20200609 RGD PMID:12958612|REF_RGD_ID:1581021 12091162 TERB1 telomere repeat binding bouquet formation protein 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12091162 TERB1 telomere repeat binding bouquet formation protein 1 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1605833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:33211200 12091162 TERB1 telomere repeat binding bouquet formation protein 1 gene DOID:0110255 cataract 5 multiple types ISO RGD:1605833 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 12091162 TERB1 telomere repeat binding bouquet formation protein 1 gene DOID:0112355 spermatogenic failure 60 ISO RGD:1605833 D RGD:7240710 20211222 OMIM 12091162 TERB1 telomere repeat binding bouquet formation protein 1 gene DOID:0112355 spermatogenic failure 60 ISO RGD:1605833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 60 PMID:25741868|PMID:32741963|PMID:33211200 12091162 TERB1 telomere repeat binding bouquet formation protein 1 gene DOID:14227 azoospermia ISO RGD:1605833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 12091162 TERB1 telomere repeat binding bouquet formation protein 1 gene DOID:630 genetic disease ISO RGD:1605833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091210 DDX59 DEAD-box helicase 59 gene DOID:0060375 orofaciodigital syndrome V ISO RGD:1606490 D RGD:7240710 20180130 OMIM 12091210 DDX59 DEAD-box helicase 59 gene DOID:0060375 orofaciodigital syndrome V ISO RGD:1606490 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome V PMID:16278897|PMID:23972372|PMID:25741868|PMID:28492532|PMID:28711741|PMID:29127725|PMID:34008892 12091210 DDX59 DEAD-box helicase 59 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12091210 DDX59 DEAD-box helicase 59 gene DOID:1540 parathyroid carcinoma ISO RGD:1606490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12091210 DDX59 DEAD-box helicase 59 gene DOID:630 genetic disease ISO RGD:1606490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12091210 DDX59 DEAD-box helicase 59 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606490 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12091210 DDX59 DEAD-box helicase 59 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12091228 GPATCH2L G-patch domain containing 2 like gene DOID:1059 intellectual disability ISO RGD:1318945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12091228 GPATCH2L G-patch domain containing 2 like gene DOID:630 genetic disease ISO RGD:1318945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091248 SKAP1 src kinase associated phosphoprotein 1 gene DOID:630 genetic disease ISO RGD:1354438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091248 SKAP1 src kinase associated phosphoprotein 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1354438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20852632 12091265 RNF135 ring finger protein 135 gene DOID:0060041 autism spectrum disorder ISO RGD:1313173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:17632510|PMID:30665703|PMID:30763456 12091265 RNF135 ring finger protein 135 gene DOID:0060403 chromosome 17q11.2 deletion syndrome ISO RGD:1313173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome PMID:17632510|PMID:21681106|PMID:25741868|PMID:27535533|PMID:28135719|PMID:30665703|PMID:30763456 12091265 RNF135 ring finger protein 135 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1313173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 12091265 RNF135 ring finger protein 135 gene DOID:1969 cerebral palsy ISO RGD:1313173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12091265 RNF135 ring finger protein 135 gene DOID:630 genetic disease ISO RGD:1313173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091265 RNF135 ring finger protein 135 gene DOID:9006257 Growth Disorders ISO RGD:1313173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632510 12091265 RNF135 ring finger protein 135 gene DOID:9008086 Developmental Disabilities ISO RGD:1313173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 12091275 C1QTNF6 C1q and TNF related 6 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12091275 C1QTNF6 C1q and TNF related 6 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1316024 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12091275 C1QTNF6 C1q and TNF related 6 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1316024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12091275 C1QTNF6 C1q and TNF related 6 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1316024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12091275 C1QTNF6 C1q and TNF related 6 gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:1307057 D RGD:9068941 20230330 RGD PMID:35322553|REF_RGD_ID:242905190 12091275 C1QTNF6 C1q and TNF related 6 gene DOID:630 genetic disease ISO RGD:1316024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091275 C1QTNF6 C1q and TNF related 6 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1316024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18978792 12091282 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:0050716 methylmalonic aciduria and homocystinuria type cblD ISO RGD:1602635 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblD type PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 12091282 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1602635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:16470708|PMID:17576681|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:23757202|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:27884173|PMID:28492532|PMID:29302074|PMID:29410950|PMID:30315573|PMID:32214227|PMID:32404165|PMID:34580403|PMID:9536098 12091282 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1602635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:16470708|PMID:17576681|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:23757202|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:27884173|PMID:28492532|PMID:29410950|PMID:32214227|PMID:9536098 12091282 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1602635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:16470708|PMID:17576681|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:23757202|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:27884173|PMID:28492532|PMID:29302074|PMID:29410950|PMID:30315573|PMID:32214227|PMID:32404165|PMID:34580403|PMID:9536098 12091282 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:0060267 pontocerebellar hypoplasia type 2A ISO RGD:1602635 D RGD:7240710 20180130 OMIM 12091282 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:0060267 pontocerebellar hypoplasia type 2A ISO RGD:1602635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2A | ClinVar Annotator: match by term: VOLENDAM NEURODEGENERATIVE DISEASE PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29302074|PMID:29410950|PMID:30315573|PMID:32404165|PMID:34580403 12091282 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:0060273 pontocerebellar hypoplasia type 4 ISO RGD:1602635 D RGD:7240710 20180221 OMIM 12091282 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:0060273 pontocerebellar hypoplasia type 4 ISO RGD:1602635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Encephalopathy fatal infantile with olivopontocerebellar hypoplasia | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 4 PMID:16470708|PMID:17576681|PMID:17641900|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:23757202|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:27884173|PMID:28492532|PMID:29302074|PMID:29410950|PMID:30315573|PMID:32404165|PMID:34580403|PMID:9536098 12091282 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:0060274 pontocerebellar hypoplasia type 5 ISO RGD:1602635 D RGD:7240710 20180822 OMIM 12091282 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:0060274 pontocerebellar hypoplasia type 5 ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia fetal-onset | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 5 PMID:16470708|PMID:17641900|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 12091282 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 12091282 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:0112328 pontocerebellar hypoplasia type 2 ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2 PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 12091282 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:10376 amblyopia ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Amblyopia PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 12091282 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:1059 intellectual disability ISO RGD:1602635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 12091282 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:1059 intellectual disability ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 12091282 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:10907 microcephaly ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 12091282 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:14784 olivopontocerebellar atrophy ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 12091282 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:480 movement disease ISO RGD:1602635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 12091282 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:630 genetic disease ISO RGD:1602635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16470708|PMID:17576681|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950|PMID:9536098 12091282 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:9000123 Deglutition Disorders ISO RGD:1602635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 12091282 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:9000343 Vision Disorders ISO RGD:1602635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 12091282 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:9006534 Nervous System Malformations ISO RGD:1602635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12091282 TSEN54 tRNA splicing endonuclease subunit 54 gene DOID:9008086 Developmental Disabilities ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 12091297 DHX34 DExH-box helicase 34 gene DOID:0080322 polycystic kidney disease ISO RGD:1605422 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:31256877 12091297 DHX34 DExH-box helicase 34 gene DOID:1059 intellectual disability ISO RGD:1605422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability 12091297 DHX34 DExH-box helicase 34 gene DOID:1826 epilepsy ISO RGD:1605422 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:31256877 12091297 DHX34 DExH-box helicase 34 gene DOID:630 genetic disease ISO RGD:1605422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091297 DHX34 DExH-box helicase 34 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605422 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorders PMID:31256877 12091297 DHX34 DExH-box helicase 34 gene DOID:9007661 Dwarfism ISO RGD:1605422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:31256877 12091339 KCTD12 potassium channel tetramerization domain containing 12 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1319755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12091339 KCTD12 potassium channel tetramerization domain containing 12 gene DOID:630 genetic disease ISO RGD:1319755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091344 CST8 cystatin 8 gene DOID:12336 male infertility ISO RGD:736077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20811015 12091344 CST8 cystatin 8 gene DOID:630 genetic disease ISO RGD:736077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091354 NET1 neuroepithelial cell transforming 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1312823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12091354 NET1 neuroepithelial cell transforming 1 gene DOID:0080600 COVID-19 ISO RGD:1312823 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12091354 NET1 neuroepithelial cell transforming 1 gene DOID:2843 long QT syndrome ISO RGD:1312823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12091354 NET1 neuroepithelial cell transforming 1 gene DOID:3070 high grade glioma ISO RGD:1312823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12091354 NET1 neuroepithelial cell transforming 1 gene DOID:5419 schizophrenia ISO RGD:1312823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12091354 NET1 neuroepithelial cell transforming 1 gene DOID:630 genetic disease ISO RGD:1312823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091368 TMEM82 transmembrane protein 82 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603825 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12091368 TMEM82 transmembrane protein 82 gene DOID:630 genetic disease ISO RGD:1603825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091378 NAALADL2 N-acetylated alpha-linked acidic dipeptidase like 2 gene DOID:630 genetic disease ISO RGD:1606935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091459 PFN3 profilin 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12091459 PFN3 profilin 3 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1604471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12091459 PFN3 profilin 3 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1604471 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 12091459 PFN3 profilin 3 gene DOID:630 genetic disease ISO RGD:1604471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091459 PFN3 profilin 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1604471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12091464 DCTPP1 dCTP pyrophosphatase 1 gene DOID:630 genetic disease ISO RGD:1601967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091474 ISG20L2 interferon stimulated exonuclease gene 20 like 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1601738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12091474 ISG20L2 interferon stimulated exonuclease gene 20 like 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1601738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12091474 ISG20L2 interferon stimulated exonuclease gene 20 like 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1601738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12091474 ISG20L2 interferon stimulated exonuclease gene 20 like 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1601738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12091474 ISG20L2 interferon stimulated exonuclease gene 20 like 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1601738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12091474 ISG20L2 interferon stimulated exonuclease gene 20 like 2 gene DOID:5812 MHC class II deficiency ISO RGD:1601738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12091474 ISG20L2 interferon stimulated exonuclease gene 20 like 2 gene DOID:630 genetic disease ISO RGD:1601738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091474 ISG20L2 interferon stimulated exonuclease gene 20 like 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12091486 OR1L6 olfactory receptor family 1 subfamily L member 6 gene DOID:630 genetic disease ISO RGD:1344733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091490 ZDHHC23 zinc finger DHHC-type palmitoyltransferase 23 gene DOID:630 genetic disease ISO RGD:1345232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091490 ZDHHC23 zinc finger DHHC-type palmitoyltransferase 23 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12091500 SAP30BP SAP30 binding protein gene DOID:5419 schizophrenia ISO RGD:1602722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12091500 SAP30BP SAP30 binding protein gene DOID:630 genetic disease ISO RGD:1602722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091520 PRR5L proline rich 5 like gene DOID:1059 intellectual disability ISO RGD:1605618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12091520 PRR5L proline rich 5 like gene DOID:630 genetic disease ISO RGD:1605618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091558 ADPRS ADP-ribosylserine hydrolase gene DOID:0070352 stress-induced childhood-onset neurodegeneration with variable ataxia and seizures ISO RGD:1319201 D RGD:7240710 20190315 OMIM 12091558 ADPRS ADP-ribosylserine hydrolase gene DOID:0070352 stress-induced childhood-onset neurodegeneration with variable ataxia and seizures ISO RGD:1319201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures PMID:25741868|PMID:30100084|PMID:30401461 12091558 ADPRS ADP-ribosylserine hydrolase gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12091558 ADPRS ADP-ribosylserine hydrolase gene DOID:10003 sensorineural hearing loss ISO RGD:1319201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment 12091558 ADPRS ADP-ribosylserine hydrolase gene DOID:630 genetic disease ISO RGD:1319201 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091577 SPATA2L spermatogenesis associated 2 like gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1605588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12091577 SPATA2L spermatogenesis associated 2 like gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1605588 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12091577 SPATA2L spermatogenesis associated 2 like gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1605588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 12091577 SPATA2L spermatogenesis associated 2 like gene DOID:13636 Fanconi anemia ISO RGD:1605588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 12091577 SPATA2L spermatogenesis associated 2 like gene DOID:14780 KBG syndrome ISO RGD:1605588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 12091577 SPATA2L spermatogenesis associated 2 like gene DOID:630 genetic disease ISO RGD:1605588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091591 H1-8 H1.8 linker histone gene DOID:0111947 immunodeficiency 21 ISO RGD:1347696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12091591 H1-8 H1.8 linker histone gene DOID:630 genetic disease ISO RGD:1347696 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091591 H1-8 H1.8 linker histone gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 12091591 H1-8 H1.8 linker histone gene DOID:9270 alkaptonuria ISO RGD:1347696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12091602 TMPRSS3 transmembrane serine protease 3 gene DOID:0050563 nonsyndromic deafness ISO RGD:1320861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:11907649|PMID:12920079|PMID:21786053|PMID:24033266|PMID:24526180|PMID:25741868|PMID:26467025|PMID:28246597|PMID:28263784|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29196752|PMID:30242206|PMID:30311386|PMID:31053783|PMID:31412945|PMID:34599368 12091602 TMPRSS3 transmembrane serine protease 3 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1320861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:11137999|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30303587|PMID:30311386|PMID:30622556|PMID:34868270 12091602 TMPRSS3 transmembrane serine protease 3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1320861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12091602 TMPRSS3 transmembrane serine protease 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:1320861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12091602 TMPRSS3 transmembrane serine protease 3 gene DOID:0110527 autosomal recessive nonsyndromic deafness 8 ISO RGD:1320861 D RGD:7240710 20180130 OMIM 12091602 TMPRSS3 transmembrane serine protease 3 gene DOID:0110527 autosomal recessive nonsyndromic deafness 8 ISO RGD:1320861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 10 | ClinVar Annotator: match by term: Deafness, autosomal recessive 8 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 8 PMID:11137999|PMID:11424922|PMID:11462234|PMID:11907649|PMID:12393794|PMID:12920079|PMID:15447792|PMID:16021470|PMID:16283880|PMID:16460646|PMID:16524950|PMID:17551081|PMID:17576681|PMID:19170735|PMID:21534946|PMID:21786053|PMID:22382023|PMID:22975204|PMID:23208854|PMID:23958653|PMID:23967202|PMID:24033266|PMID:24416283|PMID:24526180|PMID:24657061|PMID:24853665|PMID:25262649|PMID:25474651|PMID:25741868|PMID:25770132|PMID:26036852|PMID:26346818|PMID:26408194|PMID:26467025|PMID:26969326|PMID:27344577|PMID:28246597|PMID:28263784|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29196752|PMID:29293505|PMID:29431110|PMID:30242206|PMID:30303587|PMID:30311386|PMID:30622556|PMID:31045651|PMID:31053783|PMID:31152317|PMID:31412945|PMID:31589614|PMID:31980526|PMID:32235586|PMID:3285355|PMID:32853555|PMID:32860223|PMID:34599368|PMID:34868270|PMID:35802133|PMID:36633841|PMID:9536098 12091602 TMPRSS3 transmembrane serine protease 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1320861 D RGD:9068941 20200609 RGD DFNB10, OMIM:605316, DFNB8 OMIM:601072 PMID:11137999|REF_RGD_ID:1599443 12091602 TMPRSS3 transmembrane serine protease 3 gene DOID:10316 pneumoconiosis ISO RGD:1320861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 12091602 TMPRSS3 transmembrane serine protease 3 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1320861 D RGD:9068941 20200609 RGD PMID:14695172|REF_RGD_ID:2325152 12091602 TMPRSS3 transmembrane serine protease 3 gene DOID:630 genetic disease ISO RGD:1320861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11907649|PMID:15447792|PMID:16021470|PMID:16460646|PMID:19170735|PMID:21534946|PMID:21786053|PMID:24033266|PMID:25741868|PMID:26036852|PMID:26408194|PMID:26969326|PMID:28492532|PMID:28566687|PMID:29293505|PMID:30311386 12091602 TMPRSS3 transmembrane serine protease 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320861 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12091602 TMPRSS3 transmembrane serine protease 3 gene DOID:9004538 Hearing Loss ISO RGD:1320861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:11137999|PMID:11462234|PMID:11907649|PMID:15447792|PMID:16021470|PMID:16283880|PMID:16460646|PMID:17551081|PMID:19170735|PMID:21534946|PMID:21786053|PMID:22975204|PMID:23208854|PMID:23958653|PMID:23967202|PMID:24033266|PMID:24526180|PMID:25262649|PMID:25741868|PMID:26036852|PMID:26408194|PMID:26969326|PMID:28246597|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29293505|PMID:29431110|PMID:30242206|PMID:30303587|PMID:30311386|PMID:30622556|PMID:31045651|PMID:31152317|PMID:31589614|PMID:31980526|PMID:34599368|PMID:34868270 12091602 TMPRSS3 transmembrane serine protease 3 gene DOID:9258 Waardenburg's syndrome ISO RGD:1320861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 12091602 TMPRSS3 transmembrane serine protease 3 gene DOID:9263 homocystinuria ISO RGD:1320861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12091602 TMPRSS3 transmembrane serine protease 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12091622 SPRED3 sprouty related EVH1 domain containing 3 gene DOID:630 genetic disease ISO RGD:1606081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091643 DACH2 dachshund family transcription factor 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12091643 DACH2 dachshund family transcription factor 2 gene DOID:12849 autistic disorder ISO RGD:1354112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12091643 DACH2 dachshund family transcription factor 2 gene DOID:630 genetic disease ISO RGD:1354112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091659 ZBTB43 zinc finger and BTB domain containing 43 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12091659 ZBTB43 zinc finger and BTB domain containing 43 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1321100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12091659 ZBTB43 zinc finger and BTB domain containing 43 gene DOID:0080600 COVID-19 ISO RGD:1321100 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12091659 ZBTB43 zinc finger and BTB domain containing 43 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12091659 ZBTB43 zinc finger and BTB domain containing 43 gene DOID:630 genetic disease ISO RGD:1321100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091659 ZBTB43 zinc finger and BTB domain containing 43 gene DOID:9467 nail-patella syndrome ISO RGD:1321100 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Nail-patella syndrome PMID:18414507 12091673 MAP3K13 mitogen-activated protein kinase kinase kinase 13 gene DOID:0080375 gastroesophageal adenocarcinoma ISO RGD:1351586 D RGD:9068941 20220224 RGD PMID:33334899|REF_RGD_ID:151356972 12091673 MAP3K13 mitogen-activated protein kinase kinase kinase 13 gene DOID:0111546 Currarino syndrome ISO RGD:1351586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12091673 MAP3K13 mitogen-activated protein kinase kinase kinase 13 gene DOID:630 genetic disease ISO RGD:1351586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091708 CABS1 calcium binding protein, spermatid associated 1 gene DOID:630 genetic disease ISO RGD:1604567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091708 CABS1 calcium binding protein, spermatid associated 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1604567 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12091708 CABS1 calcium binding protein, spermatid associated 1 gene DOID:9005372 Inflammation treatment ISO RGD:1604567 D RGD:9068941 20200609 RGD PMID:25632019|REF_RGD_ID:14400306 12091708 CABS1 calcium binding protein, spermatid associated 1 gene DOID:9007278 Anaphylaxis treatment ISO RGD:1604567 D RGD:9068941 20200609 RGD PMID:25632019|REF_RGD_ID:14400306 12091721 TNFRSF6B TNF receptor superfamily member 6b gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12091721 TNFRSF6B TNF receptor superfamily member 6b gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1353622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12091721 TNFRSF6B TNF receptor superfamily member 6b gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1353622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:23453664|PMID:23729807|PMID:23959892|PMID:24009516|PMID:24033266|PMID:25047097|PMID:25099625|PMID:25607374|PMID:25620558|PMID:26025130|PMID:28492532 12091721 TNFRSF6B TNF receptor superfamily member 6b gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1353622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12091721 TNFRSF6B TNF receptor superfamily member 6b gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1353622 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12091721 TNFRSF6B TNF receptor superfamily member 6b gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12091721 TNFRSF6B TNF receptor superfamily member 6b gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1353622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12091721 TNFRSF6B TNF receptor superfamily member 6b gene DOID:2843 long QT syndrome ISO RGD:1353622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555|PMID:28492532 12091721 TNFRSF6B TNF receptor superfamily member 6b gene DOID:630 genetic disease ISO RGD:1353622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12091795 LOC106558422 uncharacterized LOC106558422 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:150383338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12091795 LOC106558422 uncharacterized LOC106558422 gene DOID:12849 autistic disorder ISO RGD:150383338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12091808 SLC5A1 solute carrier family 5 member 1 gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:732146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 12091808 SLC5A1 solute carrier family 5 member 1 gene DOID:630 genetic disease ISO RGD:732146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12091808 SLC5A1 solute carrier family 5 member 1 gene DOID:9001750 Glucose-Galactose Malabsorption ISO RGD:732146 D RGD:7240710 20180130 OMIM 12091808 SLC5A1 solute carrier family 5 member 1 gene DOID:9001750 Glucose-Galactose Malabsorption ISO RGD:732146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption PMID:10036327|PMID:12139397|PMID:14673631|PMID:16199547|PMID:17576681|PMID:17903058|PMID:19167319|PMID:2008213|PMID:20486940|PMID:22314875|PMID:24033266|PMID:24048166|PMID:25741868|PMID:28152538|PMID:28283348|PMID:28492532|PMID:28753187|PMID:30656007|PMID:8563765|PMID:8844006|PMID:9309206|PMID:9536098|PMID:9815014 12091808 SLC5A1 solute carrier family 5 member 1 gene DOID:9002984 Malabsorption Syndromes ISO RGD:732146 D RGD:9068941 20200609 RGD glucose/galactose malabsorption,OMIM:606824;DNA:point mutation:exon:D28N PMID:2008213|REF_RGD_ID:1624257 12091826 PRR19 proline rich 19 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1604489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12091826 PRR19 proline rich 19 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1604489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12091826 PRR19 proline rich 19 gene DOID:2340 craniosynostosis ISO RGD:1604489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12091826 PRR19 proline rich 19 gene DOID:5419 schizophrenia ISO RGD:1604489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12091826 PRR19 proline rich 19 gene DOID:630 genetic disease ISO RGD:1604489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091826 PRR19 proline rich 19 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1604489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12091826 PRR19 proline rich 19 gene DOID:9269 maple syrup urine disease ISO RGD:1604489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12091840 ST6GALNAC2 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:1343813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17480010 12091840 ST6GALNAC2 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 gene DOID:630 genetic disease ISO RGD:1343813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091856 ESR1 estrogen receptor 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30165855 12091856 ESR1 estrogen receptor 1 gene DOID:0050753 cerebellar ataxia ISO RGD:736559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 12091856 ESR1 estrogen receptor 1 gene DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 ISO RGD:736559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532 12091856 ESR1 estrogen receptor 1 gene DOID:0080001 bone disease ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28505433 12091856 ESR1 estrogen receptor 1 gene DOID:0080855 Parkinsonism ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:21420980|REF_RGD_ID:8553241 12091856 ESR1 estrogen receptor 1 gene DOID:0080979 arthrogryposis multiplex congenita-3 ISO RGD:736559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type PMID:25741868|PMID:27782104 12091856 ESR1 estrogen receptor 1 gene DOID:0110264 cataract 33 ISO RGD:10551 D RGD:9068941 20200609 RGD PMID:12082175|REF_RGD_ID:734947 12091856 ESR1 estrogen receptor 1 gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:736559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:25741868|PMID:26467025|PMID:27782104|PMID:28492532 12091856 ESR1 estrogen receptor 1 gene DOID:10247 pleurisy ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:17035596|REF_RGD_ID:4892303 12091856 ESR1 estrogen receptor 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:736559 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:17908481|REF_RGD_ID:2290023 12091856 ESR1 estrogen receptor 1 gene DOID:10283 prostate cancer severity ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17922863|REF_RGD_ID:2290022 12091856 ESR1 estrogen receptor 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:repeat PMID:18006911|REF_RGD_ID:2290020 12091856 ESR1 estrogen receptor 1 gene DOID:10652 Alzheimer's disease ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 12091856 ESR1 estrogen receptor 1 gene DOID:10652 Alzheimer's disease ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:10558867|REF_RGD_ID:1358612 12091856 ESR1 estrogen receptor 1 gene DOID:11054 urinary bladder cancer ISO RGD:736559 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:16712894|PMID:35764155 12091856 ESR1 estrogen receptor 1 gene DOID:11132 prostatic hypertrophy treatment ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:24872436|REF_RGD_ID:10045676 12091856 ESR1 estrogen receptor 1 gene DOID:11383 cryptorchidism ISO RGD:2581 D RGD:9068941 20200609 RGD mRNA:decreased expression:testis PMID:20951417|REF_RGD_ID:8553220 12091856 ESR1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:10551 D RGD:9068941 20200609 RGD PMID:21421090|REF_RGD_ID:10045841 12091856 ESR1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:10773580|REF_RGD_ID:10045834 12091856 ESR1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron:g.938C>T (human) PMID:16530497|REF_RGD_ID:10045825 12091856 ESR1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:exon:2014G>A (human) PMID:17953702|REF_RGD_ID:10045839 12091856 ESR1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:intron:397T>C (human) PMID:23137636|REF_RGD_ID:10045665 12091856 ESR1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs:intron: (rs2234693, rs9340799) (human) PMID:20116372|REF_RGD_ID:10045826 12091856 ESR1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:repeat:intron:IVS5+225(CA)18-25 (human) PMID:17896124|REF_RGD_ID:10045828 12091856 ESR1 estrogen receptor 1 gene DOID:11476 osteoporosis no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:repeat:5' utr:g.-1174(TA)10-27 (human) PMID:17953702|REF_RGD_ID:10045839 12091856 ESR1 estrogen receptor 1 gene DOID:11476 osteoporosis treatment ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:16955786|REF_RGD_ID:8694129 12091856 ESR1 estrogen receptor 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:736559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 12091856 ESR1 estrogen receptor 1 gene DOID:12306 vitiligo no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:exon PMID:15381239|REF_RGD_ID:8552976 12091856 ESR1 estrogen receptor 1 gene DOID:12306 vitiligo susceptibility ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:intron PMID:15381239|REF_RGD_ID:8552976 12091856 ESR1 estrogen receptor 1 gene DOID:12336 male infertility ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20833731|PMID:23213263 12091856 ESR1 estrogen receptor 1 gene DOID:1240 leukemia ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18808365 12091856 ESR1 estrogen receptor 1 gene DOID:127 leiomyoma ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18701604|PMID:31468104 12091856 ESR1 estrogen receptor 1 gene DOID:14228 oligospermia ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20833731 12091856 ESR1 estrogen receptor 1 gene DOID:1612 breast cancer ISO RGD:736559 D RGD:7240710 20230517 OMIM 12091856 ESR1 estrogen receptor 1 gene DOID:1612 breast cancer disease_progression ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:amplification PMID:19320640|REF_RGD_ID:8552981 12091856 ESR1 estrogen receptor 1 gene DOID:1612 breast cancer no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP: :908A>G (p.K303R) (human) PMID:15034868|REF_RGD_ID:8553053 12091856 ESR1 estrogen receptor 1 gene DOID:1612 breast cancer no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2234693, rs9340799 (human) PMID:20846920|REF_RGD_ID:8552980 12091856 ESR1 estrogen receptor 1 gene DOID:1612 breast cancer susceptibility ISO RGD:736559 D RGD:9068941 20230518 RGD DNA:SNP:exon:2014G>A (human) PMID:19636371|REF_RGD_ID:8552982 12091856 ESR1 estrogen receptor 1 gene DOID:1612 breast cancer susceptibility ISO RGD:736559 D RGD:9068941 20230518 RGD DNA:SNPs, haplotypes:promoter, exon PMID:15604249|REF_RGD_ID:8552978 12091856 ESR1 estrogen receptor 1 gene DOID:1612 breast cancer treatment ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:19011961|REF_RGD_ID:8552979 12091856 ESR1 estrogen receptor 1 gene DOID:1909 melanoma severity ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:19153340|REF_RGD_ID:8553064 12091856 ESR1 estrogen receptor 1 gene DOID:1936 atherosclerosis ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11894143 12091856 ESR1 estrogen receptor 1 gene DOID:1936 atherosclerosis treatment ISO RGD:10551 D RGD:9068941 20200609 RGD PMID:11160157|REF_RGD_ID:8553067 12091856 ESR1 estrogen receptor 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:24548484|PMID:25098259|REF_RGD_ID:10045843|REF_RGD_ID:10045845 12091856 ESR1 estrogen receptor 1 gene DOID:2349 arteriosclerosis ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:17903303|REF_RGD_ID:4892301 12091856 ESR1 estrogen receptor 1 gene DOID:2394 ovarian cancer ISO RGD:2581 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental;protein:decreased expression:ovary, breast PMID:16891317|REF_RGD_ID:2290042 12091856 ESR1 estrogen receptor 1 gene DOID:2696 Leydig cell tumor ISO RGD:736559 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:17656605|REF_RGD_ID:2290041 12091856 ESR1 estrogen receptor 1 gene DOID:289 endometriosis ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:16500359|REF_RGD_ID:1580337 12091856 ESR1 estrogen receptor 1 gene DOID:2921 glomerulonephritis ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20962747 12091856 ESR1 estrogen receptor 1 gene DOID:299 adenocarcinoma ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15639718|PMID:20458558 12091856 ESR1 estrogen receptor 1 gene DOID:305 carcinoma ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15637090|PMID:17173897 12091856 ESR1 estrogen receptor 1 gene DOID:3069 malignant astrocytoma ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24680642 12091856 ESR1 estrogen receptor 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:18285421|REF_RGD_ID:4892300 12091856 ESR1 estrogen receptor 1 gene DOID:3393 coronary artery disease ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20559769|PMID:9396482 12091856 ESR1 estrogen receptor 1 gene DOID:3393 coronary artery disease ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:16159931|REF_RGD_ID:1580335 12091856 ESR1 estrogen receptor 1 gene DOID:3459 breast carcinoma disease_progression ISO RGD:736559 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation PMID:15355923|REF_RGD_ID:8552986 12091856 ESR1 estrogen receptor 1 gene DOID:3459 breast carcinoma severity ISO RGD:736559 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:breast PMID:18234277|REF_RGD_ID:2290017 12091856 ESR1 estrogen receptor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:hypermethylation: :lung PMID:19506903|REF_RGD_ID:4892255 12091856 ESR1 estrogen receptor 1 gene DOID:418 systemic scleroderma susceptibility ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:intron: PMID:19032828|REF_RGD_ID:8553058 12091856 ESR1 estrogen receptor 1 gene DOID:4448 macular degeneration ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:snps, haplotype:intron:c.454-397T>C, c.454-351A>G (rs2234693, rs9340799) (human) PMID:17325140|REF_RGD_ID:10045664 12091856 ESR1 estrogen receptor 1 gene DOID:5223 infertility ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:24506075|REF_RGD_ID:8552987 12091856 ESR1 estrogen receptor 1 gene DOID:5844 myocardial infarction ISO RGD:736559 D RGD:7240710 20230517 OMIM 12091856 ESR1 estrogen receptor 1 gene DOID:5844 myocardial infarction ISO RGD:736559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:11894143|PMID:11919305|PMID:14600184 12091856 ESR1 estrogen receptor 1 gene DOID:630 genetic disease ISO RGD:736559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091856 ESR1 estrogen receptor 1 gene DOID:6364 migraine ISO RGD:736559 D RGD:7240710 20230517 OMIM 12091856 ESR1 estrogen receptor 1 gene DOID:6364 migraine ISO RGD:736559 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Migraine with or without aura, susceptibility to PMID:15133719|PMID:25741868 12091856 ESR1 estrogen receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:20081107|REF_RGD_ID:4892253 12091856 ESR1 estrogen receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144|PMID:28284560 12091856 ESR1 estrogen receptor 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:736559 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 12091856 ESR1 estrogen receptor 1 gene DOID:769 neuroblastoma ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27366082 12091856 ESR1 estrogen receptor 1 gene DOID:8029 sporadic breast cancer ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17932744|REF_RGD_ID:2290043 12091856 ESR1 estrogen receptor 1 gene DOID:8029 sporadic breast cancer no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:repeat:promoter PMID:17904846|REF_RGD_ID:8552977 12091856 ESR1 estrogen receptor 1 gene DOID:8283 peritonitis treatment ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:23063870|REF_RGD_ID:8553243 12091856 ESR1 estrogen receptor 1 gene DOID:8398 osteoarthritis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs2234693) (human) PMID:20417295|REF_RGD_ID:10045662 12091856 ESR1 estrogen receptor 1 gene DOID:8398 osteoarthritis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs:introns: (rs2234693, rs9340799) (human) PMID:19884274|REF_RGD_ID:10045830 12091856 ESR1 estrogen receptor 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:22025007|REF_RGD_ID:8553211 12091856 ESR1 estrogen receptor 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16220300 12091856 ESR1 estrogen receptor 1 gene DOID:8646 substance-induced psychosis ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19386276 12091856 ESR1 estrogen receptor 1 gene DOID:8719 in situ carcinoma ISO RGD:736559 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17924141|REF_RGD_ID:2290024 12091856 ESR1 estrogen receptor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:25105782|REF_RGD_ID:10045844 12091856 ESR1 estrogen receptor 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:736559 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 12091856 ESR1 estrogen receptor 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736559 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:15637090|PMID:17173897|PMID:34606849 12091856 ESR1 estrogen receptor 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:2581 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus PMID:23465388|REF_RGD_ID:8553242 12091856 ESR1 estrogen receptor 1 gene DOID:9000555 Vulvar Lichen Sclerosus ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:18076706|REF_RGD_ID:2293866 12091856 ESR1 estrogen receptor 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:16522460|REF_RGD_ID:4892312 12091856 ESR1 estrogen receptor 1 gene DOID:9000918 Disease Progression ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20104649 12091856 ESR1 estrogen receptor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736559 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:20104649|PMID:35044086 12091856 ESR1 estrogen receptor 1 gene DOID:9001004 Chronic Periodontitis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15324358|REF_RGD_ID:10045837 12091856 ESR1 estrogen receptor 1 gene DOID:9001004 Chronic Periodontitis no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15324358|REF_RGD_ID:10045837 12091856 ESR1 estrogen receptor 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736559 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35044086 12091856 ESR1 estrogen receptor 1 gene DOID:9001708 Hemorrhagic Shock severity ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:20195535|REF_RGD_ID:4892252 12091856 ESR1 estrogen receptor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:10551 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:glomerulus PMID:15550505|REF_RGD_ID:2314023 12091856 ESR1 estrogen receptor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2581 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney PMID:16464734|REF_RGD_ID:2314020 12091856 ESR1 estrogen receptor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736559 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:snps:introns: multiple(human) PMID:18305958|REF_RGD_ID:2314005 12091856 ESR1 estrogen receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:10551 D RGD:9068941 20200609 RGD PMID:19285805|REF_RGD_ID:8553066 12091856 ESR1 estrogen receptor 1 gene DOID:9002239 Estrogen Resistance ISO RGD:736559 D RGD:7240710 20230517 OMIM 12091856 ESR1 estrogen receptor 1 gene DOID:9002239 Estrogen Resistance ISO RGD:736559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Estrogen resistance syndrome PMID:23841731|PMID:27754803|PMID:8090165|PMID:8961262 12091856 ESR1 estrogen receptor 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18505767 12091856 ESR1 estrogen receptor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16220300|PMID:17176215 12091856 ESR1 estrogen receptor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:cds:c.1782G>A (rs2228480) (human) PMID:20128071|REF_RGD_ID:10045835 12091856 ESR1 estrogen receptor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs:intron: (rs2234693, rs9340799) (human) PMID:24772413|REF_RGD_ID:10045829 12091856 ESR1 estrogen receptor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:intron, exon PMID:15380041|REF_RGD_ID:10045840 12091856 ESR1 estrogen receptor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:repeat:promoter:-1174(TA)9-25 (human) PMID:16098017|REF_RGD_ID:10043199 12091856 ESR1 estrogen receptor 1 gene DOID:9002407 Spinal Fractures no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:mutation, SNP:intron, exon: , 274G>C (human) PMID:12183765|REF_RGD_ID:10045833 12091856 ESR1 estrogen receptor 1 gene DOID:9002407 Spinal Fractures susceptibility ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:intron:g.-397T>C, g.-351A>G (human) PMID:12915669|REF_RGD_ID:10045836 12091856 ESR1 estrogen receptor 1 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:10551 D RGD:9068941 20200609 RGD associated with Osteoporosis PMID:20112355|REF_RGD_ID:10045851 12091856 ESR1 estrogen receptor 1 gene DOID:9002589 Bone Fractures ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs9340799 (human) PMID:15523071|REF_RGD_ID:10045827 12091856 ESR1 estrogen receptor 1 gene DOID:9002589 Bone Fractures no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP, repeat:promoter:rs2234693 (human) PMID:15523071|REF_RGD_ID:10045827 12091856 ESR1 estrogen receptor 1 gene DOID:9002739 Female Urogenital Diseases ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 12091856 ESR1 estrogen receptor 1 gene DOID:9003566 Mesothelioma ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15639718|PMID:17659810 12091856 ESR1 estrogen receptor 1 gene DOID:9003566 Mesothelioma ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:17659810|REF_RGD_ID:4892302 12091856 ESR1 estrogen receptor 1 gene DOID:9003919 Urination Disorders treatment ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:24259512|REF_RGD_ID:10045674 12091856 ESR1 estrogen receptor 1 gene DOID:9004265 Endometrioid Carcinomas severity ISO RGD:736559 D RGD:9068941 20200609 RGD protein:increased phosphorylation PMID:14559803|REF_RGD_ID:4105451 12091856 ESR1 estrogen receptor 1 gene DOID:9004272 Varicose Ulcer no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:polymorphism:(TA) dinucleotide repeat PMID:16153823|REF_RGD_ID:1626508 12091856 ESR1 estrogen receptor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736559 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:26990689|PMID:27366082|PMID:35044086 12091856 ESR1 estrogen receptor 1 gene DOID:9004914 Postmenopausal Osteoporosis susceptibility ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:intron: (rs2234693, rs9340799) (human) PMID:16972020|REF_RGD_ID:10045838 12091856 ESR1 estrogen receptor 1 gene DOID:9004914 Postmenopausal Osteoporosis treatment ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS1T>C (human) PMID:16604479|REF_RGD_ID:8158082 12091856 ESR1 estrogen receptor 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20556506 12091856 ESR1 estrogen receptor 1 gene DOID:9005040 Hand Osteoarthritis no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs:exons: (rs2077647, rs1801132) (human) PMID:19884274|REF_RGD_ID:10045830 12091856 ESR1 estrogen receptor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11872642|PMID:17077188 12091856 ESR1 estrogen receptor 1 gene DOID:9005228 Musculoskeletal Pain ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25218601 12091856 ESR1 estrogen receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:10551 D RGD:9068941 20200609 RGD PMID:11759285|REF_RGD_ID:8553057 12091856 ESR1 estrogen receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2581 D RGD:9068941 20200609 RGD protein:increased expression:epithelial cell, nucleus PMID:15637090|REF_RGD_ID:8552983 12091856 ESR1 estrogen receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 12091856 ESR1 estrogen receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms susceptibility ISO RGD:10551 D RGD:9068941 20200609 RGD PMID:18055862|REF_RGD_ID:2290019 12091856 ESR1 estrogen receptor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2581 D RGD:9068941 20200609 RGD protein:decreased expression:penis PMID:15596216|REF_RGD_ID:2306775 12091856 ESR1 estrogen receptor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2581 D RGD:9068941 20200609 RGD protein:decreased expression:vagina,nucleus PMID:16734901|REF_RGD_ID:2314014 12091856 ESR1 estrogen receptor 1 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:intron:g.-397T>C (human) PMID:17419075|REF_RGD_ID:10045661 12091856 ESR1 estrogen receptor 1 gene DOID:9006205 Animal Disease Models ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20962747 12091856 ESR1 estrogen receptor 1 gene DOID:9006421 Feminization ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22275727 12091856 ESR1 estrogen receptor 1 gene DOID:9007181 Osteoporotic Fractures ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:25085540|REF_RGD_ID:10045675 12091856 ESR1 estrogen receptor 1 gene DOID:9007181 Osteoporotic Fractures ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:introns: (rs9397448, rs2234693, rs1643821) (human) PMID:22807154|REF_RGD_ID:10045832 12091856 ESR1 estrogen receptor 1 gene DOID:9007188 Liver Neoplasms ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16712894 12091856 ESR1 estrogen receptor 1 gene DOID:9007456 Female Infertility ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23710174 12091856 ESR1 estrogen receptor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025|PMID:27366082 12091856 ESR1 estrogen receptor 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24185510 12091856 ESR1 estrogen receptor 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:18314151|REF_RGD_ID:4892299 12091856 ESR1 estrogen receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:24185510|PMID:24185512|PMID:24398047 12091856 ESR1 estrogen receptor 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:736559 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:10945602|PMID:15133719|PMID:16280033|PMID:17545528|PMID:17553133|PMID:23236557|PMID:25741868 12091856 ESR1 estrogen receptor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:17097034|REF_RGD_ID:2314012 12091856 ESR1 estrogen receptor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:snps:introns: rs3020314, rs985694, rs1884051(human) PMID:18854778|REF_RGD_ID:2314003 12091856 ESR1 estrogen receptor 1 gene DOID:9970 obesity ISO RGD:10551 D RGD:9068941 20200609 RGD PMID:11095962|REF_RGD_ID:8553065 12091856 ESR1 estrogen receptor 1 gene DOID:9970 obesity ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:22230815|REF_RGD_ID:8553199 12091856 ESR1 estrogen receptor 1 gene DOID:9970 obesity ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20667977 12091882 MUC1 mucin 1, cell surface associated gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22963039|REF_RGD_ID:7244290 12091882 MUC1 mucin 1, cell surface associated gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:737252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12091882 MUC1 mucin 1, cell surface associated gene DOID:0050625 biliary tract benign neoplasm ISO RGD:737252 D RGD:9068941 20200609 RGD PMID:19129927|REF_RGD_ID:2317987 12091882 MUC1 mucin 1, cell surface associated gene DOID:0050848 obstructive sleep apnea ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19336590|REF_RGD_ID:5131166 12091882 MUC1 mucin 1, cell surface associated gene DOID:0060071 pre-malignant neoplasm ISO RGD:737252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28220687 12091882 MUC1 mucin 1, cell surface associated gene DOID:0080600 COVID-19 ISO RGD:737252 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 12091882 MUC1 mucin 1, cell surface associated gene DOID:0111940 immunodeficiency 42 ISO RGD:737252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12091882 MUC1 mucin 1, cell surface associated gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:737252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12091882 MUC1 mucin 1, cell surface associated gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:737252 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12091882 MUC1 mucin 1, cell surface associated gene DOID:10140 dry eye syndrome ISO RGD:737252 D RGD:9068941 20200609 RGD DNA:splice variant: :rs4072037 (human) PMID:18619437|REF_RGD_ID:7349376 12091882 MUC1 mucin 1, cell surface associated gene DOID:10140 dry eye syndrome ISO RGD:737252 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:conjuctival epithelial cell, tear PMID:22089171|REF_RGD_ID:7349375 12091882 MUC1 mucin 1, cell surface associated gene DOID:10283 prostate cancer severity ISO RGD:737252 D RGD:9068941 20200609 RGD PMID:16475027|REF_RGD_ID:7349340 12091882 MUC1 mucin 1, cell surface associated gene DOID:10754 otitis media ISO RGD:3122 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections;mRNA:increased expression:middle ear PMID:11576628|REF_RGD_ID:2303743 12091882 MUC1 mucin 1, cell surface associated gene DOID:11054 urinary bladder cancer ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:10468735|REF_RGD_ID:7245967 12091882 MUC1 mucin 1, cell surface associated gene DOID:11204 allergic conjunctivitis severity ISO RGD:737252 D RGD:9068941 20200609 RGD PMID:17177679|REF_RGD_ID:7349351 12091882 MUC1 mucin 1, cell surface associated gene DOID:11339 pneumocystosis ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9617869|REF_RGD_ID:5131424 12091882 MUC1 mucin 1, cell surface associated gene DOID:11394 adult respiratory distress syndrome ISO RGD:737252 D RGD:9068941 20200609 RGD associated with critical illness; protein:increased expression:plasma PMID:16779848|REF_RGD_ID:5131171 12091882 MUC1 mucin 1, cell surface associated gene DOID:114 heart disease ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Bronchiolitis, Viral; protein:increased expression:serum PMID:19856476|REF_RGD_ID:5131164 12091882 MUC1 mucin 1, cell surface associated gene DOID:11650 bronchopulmonary dysplasia severity ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:cord plasma PMID:18025794|REF_RGD_ID:5131170 12091882 MUC1 mucin 1, cell surface associated gene DOID:13406 pulmonary sarcoidosis ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14665489|REF_RGD_ID:5131177 12091882 MUC1 mucin 1, cell surface associated gene DOID:13891 bird fancier's lung ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15881280|REF_RGD_ID:5131172 12091882 MUC1 mucin 1, cell surface associated gene DOID:1485 cystic fibrosis ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19960788|REF_RGD_ID:5131272 12091882 MUC1 mucin 1, cell surface associated gene DOID:1540 parathyroid carcinoma ISO RGD:737252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12091882 MUC1 mucin 1, cell surface associated gene DOID:1612 breast cancer ISO RGD:737252 D RGD:9068941 20200609 RGD PMID:8869094|REF_RGD_ID:7349378 12091882 MUC1 mucin 1, cell surface associated gene DOID:1790 malignant mesothelioma ISO RGD:737252 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 12091882 MUC1 mucin 1, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:737252 D RGD:9068941 20200609 RGD PMID:18039393|PMID:18383873|PMID:18575732|PMID:19129927|REF_RGD_ID:2317987|REF_RGD_ID:2324635|REF_RGD_ID:2324637|REF_RGD_ID:2324639 12091882 MUC1 mucin 1, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased secretion:bile PMID:19055478|REF_RGD_ID:2324622 12091882 MUC1 mucin 1, cell surface associated gene DOID:1793 pancreatic cancer disease_progression ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:14654947|REF_RGD_ID:2317984 12091882 MUC1 mucin 1, cell surface associated gene DOID:2799 bronchiolitis obliterans ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16969297|REF_RGD_ID:5131273 12091882 MUC1 mucin 1, cell surface associated gene DOID:2841 asthma ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11802251|REF_RGD_ID:5131281 12091882 MUC1 mucin 1, cell surface associated gene DOID:3030 mucinous adenocarcinoma ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Pancreatic Diseases PMID:20357691|REF_RGD_ID:2317980 12091882 MUC1 mucin 1, cell surface associated gene DOID:3082 interstitial lung disease ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;protein:increased expression:serum PMID:19286849|REF_RGD_ID:4143496 12091882 MUC1 mucin 1, cell surface associated gene DOID:3082 interstitial lung disease ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15088311|REF_RGD_ID:5131176 12091882 MUC1 mucin 1, cell surface associated gene DOID:3082 interstitial lung disease severity ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15654008|REF_RGD_ID:5131173 12091882 MUC1 mucin 1, cell surface associated gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:sputum (human) PMID:21474912|REF_RGD_ID:5131160 12091882 MUC1 mucin 1, cell surface associated gene DOID:3458 breast adenocarcinoma ISO RGD:737252 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:breast PMID:7678777|REF_RGD_ID:2324855 12091882 MUC1 mucin 1, cell surface associated gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:pancreas PMID:14681945|REF_RGD_ID:2317983 12091882 MUC1 mucin 1, cell surface associated gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:737252 D RGD:9068941 20200609 RGD PMID:18713982|PMID:19109152|REF_RGD_ID:2324616|REF_RGD_ID:2324633 12091882 MUC1 mucin 1, cell surface associated gene DOID:3910 lung adenocarcinoma ISO RGD:737252 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:8694545|REF_RGD_ID:5131260 12091882 MUC1 mucin 1, cell surface associated gene DOID:418 systemic scleroderma ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19286849|REF_RGD_ID:4143496 12091882 MUC1 mucin 1, cell surface associated gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:737252 D RGD:9068941 20200609 RGD PMID:10390012|REF_RGD_ID:7245968 12091882 MUC1 mucin 1, cell surface associated gene DOID:4481 allergic rhinitis ISO RGD:3122 D RGD:9068941 20210709 RGD mRNA,protein:decreased expression:nasal mucosa PMID:31425778|REF_RGD_ID:127345100 12091882 MUC1 mucin 1, cell surface associated gene DOID:4481 allergic rhinitis ISO RGD:737252 D RGD:9068941 20210709 RGD mRNA,protein:decreased expression:nasal mucosa PMID:31425778|REF_RGD_ID:127345100 12091882 MUC1 mucin 1, cell surface associated gene DOID:4481 allergic rhinitis severity ISO RGD:3122 D RGD:9068941 20210716 RGD PMID:31425778|REF_RGD_ID:127345100 12091882 MUC1 mucin 1, cell surface associated gene DOID:4608 common bile duct neoplasm disease_progression ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:8766528|REF_RGD_ID:2324856 12091882 MUC1 mucin 1, cell surface associated gene DOID:4947 cholangiocarcinoma ISO RGD:3122 D RGD:9068941 20200609 RGD mRNA:increased expression:bile duct PMID:18081149|REF_RGD_ID:2324638 12091882 MUC1 mucin 1, cell surface associated gene DOID:4947 cholangiocarcinoma ISO RGD:3122 D RGD:9068941 20200609 RGD protein:increased expression:bile duct: PMID:15213623|REF_RGD_ID:2324667 12091882 MUC1 mucin 1, cell surface associated gene DOID:4947 cholangiocarcinoma ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19260467|REF_RGD_ID:2324664 12091882 MUC1 mucin 1, cell surface associated gene DOID:4947 cholangiocarcinoma ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased secretion:bile PMID:19055478|REF_RGD_ID:2324622 12091882 MUC1 mucin 1, cell surface associated gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:737252 D RGD:9068941 20200609 RGD PMID:19639217|REF_RGD_ID:2317986 12091882 MUC1 mucin 1, cell surface associated gene DOID:552 pneumonia ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11802251|REF_RGD_ID:5131281 12091882 MUC1 mucin 1, cell surface associated gene DOID:5812 MHC class II deficiency ISO RGD:737252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12091882 MUC1 mucin 1, cell surface associated gene DOID:630 genetic disease ISO RGD:737252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091882 MUC1 mucin 1, cell surface associated gene DOID:850 lung disease ISO RGD:737252 D RGD:9068941 20200609 RGD associated with arthritis, rheumatoid; protein:increased expression:serum PMID:15526815|REF_RGD_ID:5131175 12091882 MUC1 mucin 1, cell surface associated gene DOID:850 lung disease severity ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:10931429|REF_RGD_ID:5131182 12091882 MUC1 mucin 1, cell surface associated gene DOID:8622 measles severity ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11802251|REF_RGD_ID:5131281 12091882 MUC1 mucin 1, cell surface associated gene DOID:9000011 Gallbladder Neoplasms severity ISO RGD:737252 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:gallbladder PMID:10398137|REF_RGD_ID:2324857 12091882 MUC1 mucin 1, cell surface associated gene DOID:9000081 Lymphatic Metastasis ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell; PMID:10390012|REF_RGD_ID:7245968 12091882 MUC1 mucin 1, cell surface associated gene DOID:9000081 Lymphatic Metastasis ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Common Bile Duct Neoplasms PMID:16222735|REF_RGD_ID:2324649 12091882 MUC1 mucin 1, cell surface associated gene DOID:9000081 Lymphatic Metastasis ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Esophageal Neoplasms PMID:21339746|REF_RGD_ID:7349383 12091882 MUC1 mucin 1, cell surface associated gene DOID:9000081 Lymphatic Metastasis ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Gallbladder Neoplasms;protein:altered localization:gallbladder PMID:11295067|REF_RGD_ID:2324860 12091882 MUC1 mucin 1, cell surface associated gene DOID:9000217 Stomach Neoplasms ISO RGD:737252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098866 12091882 MUC1 mucin 1, cell surface associated gene DOID:9000965 Neoplasm Metastasis ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:12941828|PMID:16707592|REF_RGD_ID:2324648|REF_RGD_ID:2324652 12091882 MUC1 mucin 1, cell surface associated gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell; PMID:10390012|REF_RGD_ID:7245968 12091882 MUC1 mucin 1, cell surface associated gene DOID:9001834 Peritoneal Neoplasms ISO RGD:737252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 12091882 MUC1 mucin 1, cell surface associated gene DOID:9002159 Liver Reperfusion Injury ISO RGD:3122 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:bile duct PMID:21775928|REF_RGD_ID:7364757 12091882 MUC1 mucin 1, cell surface associated gene DOID:9002231 Fetal Growth Retardation ISO RGD:3122 D RGD:9068941 20200609 RGD PMID:19287349|REF_RGD_ID:7349369 12091882 MUC1 mucin 1, cell surface associated gene DOID:9002661 Diabetes Complications ISO RGD:3122 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23977093|REF_RGD_ID:7349380 12091882 MUC1 mucin 1, cell surface associated gene DOID:9002900 Autosomal Dominant Tubulointerstitial Kidney Disease 2 ISO RGD:737252 D RGD:7240710 20180130 OMIM 12091882 MUC1 mucin 1, cell surface associated gene DOID:9002900 Autosomal Dominant Tubulointerstitial Kidney Disease 2 ISO RGD:737252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tubulointerstitial kidney disease, autosomal dominant, 2 PMID:15384011|PMID:23396133|PMID:25741868|PMID:33532864 12091882 MUC1 mucin 1, cell surface associated gene DOID:9003566 Mesothelioma ISO RGD:737252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18454162 12091882 MUC1 mucin 1, cell surface associated gene DOID:9004009 Reperfusion Injury ISO RGD:3122 D RGD:9068941 20200609 RGD PMID:23977093|REF_RGD_ID:7349380 12091882 MUC1 mucin 1, cell surface associated gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:737252 D RGD:9068941 20200609 RGD PMID:23015160|REF_RGD_ID:7349374 12091882 MUC1 mucin 1, cell surface associated gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:3122 D RGD:9068941 20200609 RGD PMID:22019164|REF_RGD_ID:7245959 12091882 MUC1 mucin 1, cell surface associated gene DOID:9006404 Tubulointerstitial Nephritis and Uveitis ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:kidney tubule, serum: PMID:17162148|REF_RGD_ID:7246892 12091882 MUC1 mucin 1, cell surface associated gene DOID:9006532 Hematologic Neoplasms ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Pneumonia, Pneumocystis; protein:increased expression:serum PMID:12186700|REF_RGD_ID:5131276 12091882 MUC1 mucin 1, cell surface associated gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19856476|REF_RGD_ID:5131164 12091882 MUC1 mucin 1, cell surface associated gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737252 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22457794 12091882 MUC1 mucin 1, cell surface associated gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12091882 MUC1 mucin 1, cell surface associated gene DOID:9423 blepharitis ISO RGD:10927 D RGD:9068941 20200609 RGD PMID:10359313|REF_RGD_ID:7349379 12091882 MUC1 mucin 1, cell surface associated gene DOID:9538 multiple myeloma ISO RGD:737252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9949172 12091882 MUC1 mucin 1, cell surface associated gene DOID:9700 bacterial conjunctivitis ISO RGD:10927 D RGD:9068941 20200609 RGD PMID:10359313|REF_RGD_ID:7349379 12091899 USP49 ubiquitin specific peptidase 49 gene DOID:0050444 infantile Refsum disease ISO RGD:1601875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12091899 USP49 ubiquitin specific peptidase 49 gene DOID:630 genetic disease ISO RGD:1601875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091899 USP49 ubiquitin specific peptidase 49 gene DOID:905 Zellweger syndrome ISO RGD:1601875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12091908 BCKDHB branched chain keto acid dehydrogenase E1 subunit beta gene DOID:630 genetic disease ISO RGD:1351460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11448970|PMID:11509994|PMID:20301495|PMID:21484869|PMID:22326532|PMID:22593002|PMID:25255367|PMID:25381949|PMID:25741868|PMID:26257134|PMID:26453840|PMID:27507644|PMID:27682710|PMID:28197878|PMID:28492532|PMID:29307017|PMID:31119508|PMID:31980395|PMID:33300147|PMID:34556729|PMID:35281663 12091908 BCKDHB branched chain keto acid dehydrogenase E1 subunit beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2197 D RGD:9068941 20200609 RGD Protein:increased expression:liver; PMID:9460082|REF_RGD_ID:1599467 12091908 BCKDHB branched chain keto acid dehydrogenase E1 subunit beta gene DOID:9007006 Maple Syrup Urine Disease, Type 1B ISO RGD:1351460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB | ClinVar Annotator: match by term: Maple syrup urine disease type 1B PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:19282776|PMID:19480318|PMID:20301495|PMID:20307994|PMID:21484869|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25333063|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26830710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:30228974|PMID:31112740|PMID:31980395|PMID:32812330|PMID:33131499|PMID:34556729|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098 12091908 BCKDHB branched chain keto acid dehydrogenase E1 subunit beta gene DOID:9269 maple syrup urine disease ISO RGD:1351460 D RGD:7240710 20180130 OMIM 12091908 BCKDHB branched chain keto acid dehydrogenase E1 subunit beta gene DOID:9269 maple syrup urine disease ISO RGD:1351460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16199547|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:19282776|PMID:19480318|PMID:20307994|PMID:21484869|PMID:22326532|PMID:22350544|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24770567|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25333063|PMID:25381949|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:27507644|PMID:27682710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29307017|PMID:29740478|PMID:29740775|PMID:30228974|PMID:30298499|PMID:31112740|PMID:31119508|PMID:31523617|PMID:31610500|PMID:31980395|PMID:32193832|PMID:32812330|PMID:33131499|PMID:33300147|PMID:34556729|PMID:8161368|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098 12091908 BCKDHB branched chain keto acid dehydrogenase E1 subunit beta gene DOID:9269 maple syrup urine disease ISO RGD:1351460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16199547|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:19282776|PMID:19480318|PMID:20301495|PMID:20307994|PMID:21484869|PMID:22326532|PMID:22350544|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24571530|PMID:24770567|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25333063|PMID:25381949|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26232051|PMID:26239723|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:27507644|PMID:27682710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29307017|PMID:29740478|PMID:29740775|PMID:30228974|PMID:31112740|PMID:31119508|PMID:31251765|PMID:31523617|PMID:31610500|PMID:31980395|PMID:32151765|PMID:32193832|PMID:32515140|PMID:32812330|PMID:33131499|PMID:33300147|PMID:33955723|PMID:34556729|PMID:35281663|PMID:8161368|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098 12091908 BCKDHB branched chain keto acid dehydrogenase E1 subunit beta gene DOID:9269 maple syrup urine disease ISO RGD:1351460 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16199547|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:19282776|PMID:19480318|PMID:19715473|PMID:20301495|PMID:20307994|PMID:21484869|PMID:22326532|PMID:22350544|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24571530|PMID:24770567|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25333063|PMID:25381949|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26232051|PMID:26239723|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:27507644|PMID:27682710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29307017|PMID:29740478|PMID:29740775|PMID:30228974|PMID:31112740|PMID:31119508|PMID:31251765|PMID:31523617|PMID:31610500|PMID:31980395|PMID:32151765|PMID:32193832|PMID:32515140|PMID:32812330|PMID:33131499|PMID:33300147|PMID:33955723|PMID:34556729|PMID:35281663|PMID:8161368|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098 12091939 PPOX protoporphyrinogen oxidase gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1321506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12091939 PPOX protoporphyrinogen oxidase gene DOID:1540 parathyroid carcinoma ISO RGD:1321506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12091939 PPOX protoporphyrinogen oxidase gene DOID:3890 acute intermittent porphyria ISO RGD:1321507 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R59W (mouse) PMID:11929050|REF_RGD_ID:4145363 12091939 PPOX protoporphyrinogen oxidase gene DOID:4346 variegate porphyria ISO RGD:1321506 D RGD:7240710 20180207 OMIM 12091939 PPOX protoporphyrinogen oxidase gene DOID:4346 variegate porphyria ISO RGD:1321506 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Variegate porphyria | ClinVar Annotator: match by term: Variegate porphyria, homozygous PMID:10401000|PMID:10486317|PMID:10870850|PMID:11173967|PMID:11286631|PMID:11298551|PMID:11348478|PMID:11929051|PMID:12380696|PMID:12655566|PMID:12922165|PMID:15327556|PMID:16433813|PMID:17576681|PMID:18570668|PMID:1946837|PMID:19656457|PMID:19845869|PMID:21048046|PMID:21910705|PMID:23409300|PMID:24033266|PMID:25445397|PMID:25741868|PMID:27982422|PMID:28492532|PMID:28653968|PMID:29130490|PMID:33159949|PMID:3319294|PMID:8290408|PMID:8673113|PMID:8817334|PMID:8852667|PMID:9536098|PMID:9540991|PMID:9738863|PMID:9811936|PMID:9829909 12091939 PPOX protoporphyrinogen oxidase gene DOID:630 genetic disease ISO RGD:1321506 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10486317|PMID:11474578|PMID:11929051|PMID:12859407|PMID:21048046|PMID:24073655|PMID:28492532|PMID:9763307 12091939 PPOX protoporphyrinogen oxidase gene DOID:6364 migraine ISO RGD:1321506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Migraine PMID:25741868 12091939 PPOX protoporphyrinogen oxidase gene DOID:9005584 Hepatic Porphyrias ISO RGD:1321506 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G232R (human) PMID:8852667|REF_RGD_ID:1599172 12091939 PPOX protoporphyrinogen oxidase gene DOID:9005584 Hepatic Porphyrias ISO RGD:1321506 D RGD:9068941 20200609 RGD DNA:mutations:cds:multiple (human) PMID:10486317|REF_RGD_ID:1599176 12091939 PPOX protoporphyrinogen oxidase gene DOID:9005584 Hepatic Porphyrias ISO RGD:1321506 D RGD:9068941 20200609 RGD DNA:transition:cds:p.R59W (human) PMID:9254745|REF_RGD_ID:1599174 12091939 PPOX protoporphyrinogen oxidase gene DOID:9005584 Hepatic Porphyrias ISO RGD:1321507 D RGD:9068941 20200609 RGD protein:decreased activity:liver, kidney (mouse) PMID:9431441|REF_RGD_ID:4145281 12091939 PPOX protoporphyrinogen oxidase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1321506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 12091939 PPOX protoporphyrinogen oxidase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12091955 ARPC1A actin related protein 2/3 complex subunit 1A gene DOID:1793 pancreatic cancer ISO RGD:1344294 D RGD:9068941 20200609 RGD DNA:amplification (human) PMID:19145645|REF_RGD_ID:2317557 12091955 ARPC1A actin related protein 2/3 complex subunit 1A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12091955 ARPC1A actin related protein 2/3 complex subunit 1A gene DOID:5419 schizophrenia ISO RGD:1344294 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex (human) PMID:15098003|REF_RGD_ID:11571619 12091955 ARPC1A actin related protein 2/3 complex subunit 1A gene DOID:630 genetic disease ISO RGD:1344294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12091969 SUN1 Sad1 and UNC84 domain containing 1 gene DOID:0060224 atrial fibrillation ISO RGD:1343381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12091969 SUN1 Sad1 and UNC84 domain containing 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:16199547|PMID:28492532 12091969 SUN1 Sad1 and UNC84 domain containing 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:16199547|PMID:17576681|PMID:28492532|PMID:9536098 12091969 SUN1 Sad1 and UNC84 domain containing 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy severity ISO RGD:1550518 D RGD:9068941 20200609 RGD PMID:22541428|REF_RGD_ID:10044242 12091969 SUN1 Sad1 and UNC84 domain containing 1 gene DOID:3911 progeria severity ISO RGD:1550518 D RGD:9068941 20200609 RGD PMID:22541428|REF_RGD_ID:10044242 12091969 SUN1 Sad1 and UNC84 domain containing 1 gene DOID:630 genetic disease ISO RGD:1343381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12092018 LRRTM1 leucine rich repeat transmembrane neuronal 1 gene DOID:5419 schizophrenia ISO RGD:1622254 D RGD:9068941 20220825 MouseDO OMIM:181500 12092018 LRRTM1 leucine rich repeat transmembrane neuronal 1 gene DOID:630 genetic disease ISO RGD:1351021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12092029 FAM168B family with sequence similarity 168 member B gene DOID:2661 myoepithelioma ISO RGD:1606974 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12092029 FAM168B family with sequence similarity 168 member B gene DOID:5419 schizophrenia ISO RGD:1606974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12092029 FAM168B family with sequence similarity 168 member B gene DOID:630 genetic disease ISO RGD:1606974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12092042 ARID1B AT-rich interaction domain 1B gene DOID:0050840 cervical dystonia ISO RGD:1316702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Torticollis PMID:25741868 12092042 ARID1B AT-rich interaction domain 1B gene DOID:0050902 medulloblastoma ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:25741868|PMID:26822237 12092042 ARID1B AT-rich interaction domain 1B gene DOID:0060041 autism spectrum disorder ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930 12092042 ARID1B AT-rich interaction domain 1B gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1316702 D RGD:7240710 20180725 OMIM 12092042 ARID1B AT-rich interaction domain 1B gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1316702 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 PMID:10361086|PMID:15057123|PMID:18414213|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23815551|PMID:23906836|PMID:23929686|PMID:24674232|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25674384|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26822237|PMID:27474218|PMID:27570168|PMID:27824329|PMID:28323383|PMID:28492532|PMID:28708303|PMID:29286531|PMID:30504930|PMID:31132234|PMID:32860008|PMID:33098347 12092042 ARID1B AT-rich interaction domain 1B gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1316702 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES PMID:10361086|PMID:15057123|PMID:18414213|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23160955|PMID:23815551|PMID:23906836|PMID:23929686|PMID:24674232|PMID:25249037|PMID:25326635|PMID:25326637|PMID:25363768|PMID:25473036|PMID:25533962|PMID:25674384|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26506440|PMID:26822237|PMID:27474218|PMID:27570168|PMID:27824329|PMID:28323383|PMID:28492532|PMID:28708303|PMID:29286531|PMID:30504930|PMID:31132234|PMID:32860008|PMID:33098347|PMID:33768696 12092042 ARID1B AT-rich interaction domain 1B gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1316702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES PMID:10361086|PMID:15057123|PMID:17576681|PMID:18414213|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23160955|PMID:23815551|PMID:23906836|PMID:23929686|PMID:24674232|PMID:25217958|PMID:25249037|PMID:25326635|PMID:25363768|PMID:25473036|PMID:25533962|PMID:25674384|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26506440|PMID:26822237|PMID:27474218|PMID:27570168|PMID:27824329|PMID:28323383|PMID:28492532|PMID:28708303|PMID:29286531|PMID:30349098|PMID:30504930|PMID:31132234|PMID:31164752|PMID:32860008|PMID:33098347|PMID:33619735|PMID:33768696|PMID:34706719|PMID:9536098 12092042 ARID1B AT-rich interaction domain 1B gene DOID:0070338 cerebellar hypoplasia ISO RGD:1316702 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868 12092042 ARID1B AT-rich interaction domain 1B gene DOID:10348 blepharophimosis ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:23806086|PMID:24088041|PMID:24674232|PMID:25741868 12092042 ARID1B AT-rich interaction domain 1B gene DOID:10534 stomach cancer disease_progression ISO RGD:1316702 D RGD:9068941 20210430 RGD protein:decreased expression:stomach (human) PMID:26637902|REF_RGD_ID:126848744 12092042 ARID1B AT-rich interaction domain 1B gene DOID:1059 intellectual disability ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:25741868|PMID:28492532 12092042 ARID1B AT-rich interaction domain 1B gene DOID:10763 hypertension treatment ISO RGD:708504 D RGD:9068941 20200609 RGD PMID:17489020|REF_RGD_ID:9587762 12092042 ARID1B AT-rich interaction domain 1B gene DOID:10907 microcephaly ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12092042 ARID1B AT-rich interaction domain 1B gene DOID:10908 hydrocephalus ISO RGD:1316703 D RGD:9068941 20200609 RGD PMID:28867767|REF_RGD_ID:13439722 12092042 ARID1B AT-rich interaction domain 1B gene DOID:1826 epilepsy ISO RGD:1316702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:15057123|PMID:17576681|PMID:22405089|PMID:25741868|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:9536098 12092042 ARID1B AT-rich interaction domain 1B gene DOID:1925 Coffin-Siris syndrome ISO RGD:1316702 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome | ClinVar Annotator: match by term: Fifth digit syndrome PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532 12092042 ARID1B AT-rich interaction domain 1B gene DOID:3070 high grade glioma ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:25741868 12092042 ARID1B AT-rich interaction domain 1B gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1316702 D RGD:9068941 20210507 RGD DNA:mutations PMID:32791957|REF_RGD_ID:126848874 12092042 ARID1B AT-rich interaction domain 1B gene DOID:3948 adrenocortical carcinoma ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma PMID:25674384|PMID:28492532|PMID:30349098 12092042 ARID1B AT-rich interaction domain 1B gene DOID:420 hypertrichosis ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrichosis PMID:25741868 12092042 ARID1B AT-rich interaction domain 1B gene DOID:557 kidney disease ISO RGD:1316702 D RGD:9068941 20200609 RGD PMID:14633620|REF_RGD_ID:1302474 12092042 ARID1B AT-rich interaction domain 1B gene DOID:630 genetic disease ISO RGD:1316702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10361086|PMID:15057123|PMID:17576681|PMID:18414213|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23160955|PMID:23815551|PMID:23906836|PMID:23929686|PMID:25249037|PMID:25326635|PMID:25356970|PMID:25363768|PMID:25473036|PMID:25533962|PMID:25674384|PMID:25741868|PMID:26350204|PMID:26376624|PMID:27391121|PMID:27474218|PMID:27824329|PMID:28323383|PMID:28492532|PMID:29286531|PMID:29504208|PMID:30349098|PMID:31164752|PMID:34706719|PMID:9536098 12092042 ARID1B AT-rich interaction domain 1B gene DOID:684 hepatocellular carcinoma ISO RGD:1316702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22634756 12092042 ARID1B AT-rich interaction domain 1B gene DOID:769 neuroblastoma ISO RGD:1316702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23202128 12092042 ARID1B AT-rich interaction domain 1B gene DOID:769 neuroblastoma ISO RGD:1316702 D RGD:9068941 20200609 RGD DNA:deletion,haploinsufficiency: : PMID:23202128|REF_RGD_ID:13439724 12092042 ARID1B AT-rich interaction domain 1B gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1316702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868|PMID:30349098|PMID:34706719 12092042 ARID1B AT-rich interaction domain 1B gene DOID:9002112 Growth Deficiency and Mental Retardation with Facial Dysmorphism ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wiedemann-Steiner syndrome 12092042 ARID1B AT-rich interaction domain 1B gene DOID:9003531 Nicolaides Baraitser Syndrome ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome PMID:25741868 12092042 ARID1B AT-rich interaction domain 1B gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 12092042 ARID1B AT-rich interaction domain 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12092042 ARID1B AT-rich interaction domain 1B gene DOID:9004507 Hirsutism ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirsutism 12092042 ARID1B AT-rich interaction domain 1B gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12092042 ARID1B AT-rich interaction domain 1B gene DOID:9008086 Developmental Disabilities ISO RGD:1316702 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741885 12092042 ARID1B AT-rich interaction domain 1B gene DOID:9008582 Developmental Disease ISO RGD:1316702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12092042 Arid1b AT-rich interaction domain 1B gene DOID:326 ischemia ISO RGD:708504 D RGD:9068941 20200609 RGD PMID:14633620|REF_RGD_ID:1302474 12092066 SLC7A9 solute carrier family 7 member 9 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:734403 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12092066 SLC7A9 solute carrier family 7 member 9 gene DOID:557 kidney disease ISO RGD:734403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21572414 12092066 SLC7A9 solute carrier family 7 member 9 gene DOID:630 genetic disease ISO RGD:734403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12092066 SLC7A9 solute carrier family 7 member 9 gene DOID:9266 cystinuria IAGP D RGD:12801476 20230405 OMIA Cystinuria, type II - B PMID:16845473|PMID:24001348|PMID:34438894|PMID:26002797|PMID:36971195|PMID:27388977 12092066 SLC7A9 solute carrier family 7 member 9 gene DOID:9266 cystinuria ISO RGD:734403 D RGD:7240710 20180130 OMIM 12092066 SLC7A9 solute carrier family 7 member 9 gene DOID:9266 cystinuria ISO RGD:734403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria PMID:10471498|PMID:11013083|PMID:11157794|PMID:11260385|PMID:11748844|PMID:12036192|PMID:12234283|PMID:12234930|PMID:12239244|PMID:12371955|PMID:12820697|PMID:15635077|PMID:15670723|PMID:16138908|PMID:16199547|PMID:16225397|PMID:16374432|PMID:16609684|PMID:16834950|PMID:16838140|PMID:17539912|PMID:17576681|PMID:18414213|PMID:18947684|PMID:19782624|PMID:21255007|PMID:21677404|PMID:21681106|PMID:22480232|PMID:23532419|PMID:24033266|PMID:25109415|PMID:25296721|PMID:25599739|PMID:25741868|PMID:25964309|PMID:26123750|PMID:28492532|PMID:28646536|PMID:28717662|PMID:28812535|PMID:32133030|PMID:33349102|PMID:33377691|PMID:33532864|PMID:6031738|PMID:9536098 12092083 SH3BP4 SH3 domain binding protein 4 gene DOID:630 genetic disease ISO RGD:731485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12092095 SLC37A1 solute carrier family 37 member 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1318445 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12092095 SLC37A1 solute carrier family 37 member 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1318445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12092095 SLC37A1 solute carrier family 37 member 1 gene DOID:630 genetic disease ISO RGD:1318445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12092095 SLC37A1 solute carrier family 37 member 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1318445 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12092095 SLC37A1 solute carrier family 37 member 1 gene DOID:9263 homocystinuria ISO RGD:1318445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12092095 SLC37A1 solute carrier family 37 member 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318445 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12092125 WDR53 WD repeat domain 53 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1344468 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 12092125 WDR53 WD repeat domain 53 gene DOID:12849 autistic disorder ISO RGD:1344468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12092125 WDR53 WD repeat domain 53 gene DOID:5419 schizophrenia ISO RGD:1344468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12092125 WDR53 WD repeat domain 53 gene DOID:630 genetic disease ISO RGD:1344468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12092143 GORASP2 golgi reassembly stacking protein 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:736034 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12092143 GORASP2 golgi reassembly stacking protein 2 gene DOID:630 genetic disease ISO RGD:736034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12092157 F12 coagulation factor XII gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1345372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12092157 F12 coagulation factor XII gene DOID:0060903 thrombosis ISO RGD:1345372 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868 12092157 F12 coagulation factor XII gene DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 ISO RGD:1345372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 PMID:25050900|PMID:25741868|PMID:28492532|PMID:30943683 12092157 F12 coagulation factor XII gene DOID:0080655 hypophosphatemic nephrolithiasis/osteoporosis ISO RGD:1345372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic PMID:17576681|PMID:21920016|PMID:23348723|PMID:24029428|PMID:24033266|PMID:25050900|PMID:25524745|PMID:25741868|PMID:28492532|PMID:30943683|PMID:8528215|PMID:9354665|PMID:9536098 12092157 F12 coagulation factor XII gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1345372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12092157 F12 coagulation factor XII gene DOID:0080940 hereditary angioedema type III ISO RGD:1345372 D RGD:7240710 20180130 OMIM 12092157 F12 coagulation factor XII gene DOID:0080940 hereditary angioedema type III ISO RGD:1345372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ESTROGEN-RELATED HAE | ClinVar Annotator: match by term: ESTROGEN-SENSITIVE HAE | ClinVar Annotator: match by term: Hereditary angioedema, type III PMID:10361128|PMID:10984376|PMID:11843842|PMID:16638441|PMID:17186468|PMID:17825897|PMID:18974842|PMID:19178938|PMID:19474702|PMID:19786295|PMID:19933701|PMID:20303064|PMID:20490261|PMID:21690105|PMID:22920075|PMID:23188048|PMID:24033266|PMID:25741868|PMID:25744496|PMID:25790805|PMID:26286125|PMID:27130860|PMID:28492532|PMID:9490684 12092157 F12 coagulation factor XII gene DOID:0080941 acquired angioedema disease_progression ISO RGD:1345372 D RGD:9068941 20200609 RGD PMID:9129025|REF_RGD_ID:11565081 12092157 F12 coagulation factor XII gene DOID:0112103 Sotos syndrome 1 ISO RGD:1345372 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 12092157 F12 coagulation factor XII gene DOID:10763 hypertension ISO RGD:1345372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension PMID:16638441|PMID:25741868 12092157 F12 coagulation factor XII gene DOID:14735 hereditary angioedema ISO RGD:1345372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary angioneurotic edema PMID:10984376|PMID:16638441|PMID:17186468|PMID:17825897|PMID:19178938|PMID:19474702|PMID:20490261|PMID:22920075|PMID:24033266|PMID:25050900|PMID:25741868|PMID:25744496|PMID:25790805|PMID:27130860|PMID:28492532|PMID:30943683 12092157 F12 coagulation factor XII gene DOID:14735 hereditary angioedema disease_progression ISO RGD:1345372 D RGD:9068941 20200609 RGD PMID:9129025|REF_RGD_ID:11565081 12092157 F12 coagulation factor XII gene DOID:1555 urticaria ISO RGD:1345372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Urticaria PMID:16638441|PMID:25741868 12092157 F12 coagulation factor XII gene DOID:1558 angioedema ISO RGD:1345372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angioedema PMID:16638441|PMID:25741868 12092157 F12 coagulation factor XII gene DOID:2231 factor XII deficiency ISO RGD:1345372 D RGD:7240710 20180130 OMIM 12092157 F12 coagulation factor XII gene DOID:2231 factor XII deficiency ISO RGD:1345372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar Annotator: match by term: Factor XII deficiency disease PMID:10361128|PMID:10984376|PMID:11843842|PMID:16638441|PMID:17186468|PMID:17576681|PMID:17825897|PMID:18974842|PMID:19178938|PMID:19474702|PMID:19786295|PMID:19933701|PMID:20303064|PMID:20490261|PMID:21264442|PMID:21690105|PMID:21920016|PMID:22920075|PMID:23188048|PMID:23348723|PMID:24029428|PMID:24033266|PMID:25050900|PMID:25524745|PMID:25741868|PMID:25744496|PMID:25790805|PMID:26286125|PMID:27130860|PMID:28492532|PMID:30943683|PMID:8528215|PMID:9354665|PMID:9490684|PMID:9536098 12092157 F12 coagulation factor XII gene DOID:224 transient cerebral ischemia ISO RGD:1552499 D RGD:9068941 20200609 RGD PMID:16533887|REF_RGD_ID:11041786 12092157 F12 coagulation factor XII gene DOID:224 transient cerebral ischemia treatment ISO RGD:1345372 D RGD:9068941 20200609 RGD PMID:16533887|REF_RGD_ID:11041786 12092157 F12 coagulation factor XII gene DOID:2741 bilirubin metabolic disorder ISO RGD:1345372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperbilirubinemia PMID:16638441|PMID:25741868 12092157 F12 coagulation factor XII gene DOID:3525 middle cerebral artery infarction ISO RGD:1552499 D RGD:9068941 20200609 RGD PMID:16533887|REF_RGD_ID:11041786 12092157 F12 coagulation factor XII gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1345372 D RGD:9068941 20200609 RGD PMID:16533887|REF_RGD_ID:11041786 12092157 F12 coagulation factor XII gene DOID:5844 myocardial infarction susceptibility ISO RGD:1345372 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-46C>T(human) PMID:16411408|REF_RGD_ID:11041803 12092157 F12 coagulation factor XII gene DOID:630 genetic disease ISO RGD:1345372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12092157 F12 coagulation factor XII gene DOID:9000528 Coronary Disease ISO RGD:1345372 D RGD:9068941 20200609 RGD protein:decreased activity:: PMID:18021303|REF_RGD_ID:11041785 12092157 F12 coagulation factor XII gene DOID:9000543 Death ISO RGD:1345372 D RGD:9068941 20200609 RGD PMID:17388965|REF_RGD_ID:11041782 12092157 F12 coagulation factor XII gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1345372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 12092157 F12 coagulation factor XII gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1345372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FACTOR XII POLYMORPHISM PMID:11843842|PMID:20303064|PMID:24033266|PMID:25741868|PMID:9490684 12092157 F12 coagulation factor XII gene DOID:9003121 Thromboembolism ISO RGD:1345372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16009717 12092157 F12 coagulation factor XII gene DOID:9003121 Thromboembolism ISO RGD:1345372 D RGD:9068941 20200609 RGD PMID:16009717|REF_RGD_ID:11041771 12092157 F12 coagulation factor XII gene DOID:9003121 Thromboembolism ISO RGD:1552499 D RGD:9068941 20200609 RGD PMID:16009717|REF_RGD_ID:11041771 12092157 F12 coagulation factor XII gene DOID:9003281 Spontaneous Abortions ISO RGD:1345372 D RGD:9068941 20200609 RGD protein:decreased activity: : PMID:24597288|REF_RGD_ID:11041799 12092157 F12 coagulation factor XII gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1345372 D RGD:9068941 20200609 RGD DNA:polymorphism::46C>T(human) PMID:15116249|REF_RGD_ID:11041808 12092157 F12 coagulation factor XII gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1345372 D RGD:9068941 20200609 RGD associated with Pregnancy Complications; DNA:polymorphism::46C>T(human) PMID:20141580|REF_RGD_ID:11041858 12092157 F12 coagulation factor XII gene DOID:9005930 Endotoxemia ISO RGD:1359175 D RGD:9068941 20200609 RGD PMID:11092686|REF_RGD_ID:7394782 12092157 F12 coagulation factor XII gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1345372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12092157 F12 coagulation factor XII gene DOID:9007096 Stroke susceptibility ISO RGD:1345372 D RGD:9068941 20200609 RGD DNA:polymorphism::46C>T(human) PMID:15232129|REF_RGD_ID:11041862 12092157 F12 coagulation factor XII gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:1359175 D RGD:9068941 20200609 RGD PMID:16046705|REF_RGD_ID:1601105 12092157 F12 coagulation factor XII gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345372 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:7974333|REF_RGD_ID:2312416 12092181 ST14 ST14 transmembrane serine protease matriptase gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:733374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26599507 12092181 ST14 ST14 transmembrane serine protease matriptase gene DOID:0050474 Netherton syndrome ISO RGD:733374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20657595 12092181 ST14 ST14 transmembrane serine protease matriptase gene DOID:0060074 ductal carcinoma in situ ISO RGD:733374 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17163404|REF_RGD_ID:2315089 12092181 ST14 ST14 transmembrane serine protease matriptase gene DOID:0060720 autosomal recessive congenital ichthyosis 11 ISO RGD:733374 D RGD:7240710 20180130 OMIM 12092181 ST14 ST14 transmembrane serine protease matriptase gene DOID:0060720 autosomal recessive congenital ichthyosis 11 ISO RGD:733374 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 11 PMID:12207612|PMID:17273967|PMID:18445049|PMID:18843291|PMID:25741868|PMID:28492532|PMID:29611532|PMID:9450882 12092181 ST14 ST14 transmembrane serine protease matriptase gene DOID:0080600 COVID-19 ISO RGD:733374 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12092181 ST14 ST14 transmembrane serine protease matriptase gene DOID:0111723 Jacobsen Syndrome ISO RGD:733374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12092181 ST14 ST14 transmembrane serine protease matriptase gene DOID:12894 Sjogren's syndrome ISO RGD:733375 D RGD:9068941 20220825 MouseDO OMIM:270150 12092181 ST14 ST14 transmembrane serine protease matriptase gene DOID:2999 granulosa cell tumor ISO RGD:733374 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:16439987|REF_RGD_ID:2315091 12092181 ST14 ST14 transmembrane serine protease matriptase gene DOID:4441 dysgerminoma ISO RGD:733374 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:16439987|REF_RGD_ID:2315091 12092181 ST14 ST14 transmembrane serine protease matriptase gene DOID:4450 renal cell carcinoma ISO RGD:733374 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:16501837|REF_RGD_ID:2315090 12092181 ST14 ST14 transmembrane serine protease matriptase gene DOID:5419 schizophrenia ISO RGD:733374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12092181 ST14 ST14 transmembrane serine protease matriptase gene DOID:630 genetic disease ISO RGD:733374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12092181 ST14 ST14 transmembrane serine protease matriptase gene DOID:8634 prostate carcinoma in situ ISO RGD:733374 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18813126|REF_RGD_ID:2315088 12092181 ST14 ST14 transmembrane serine protease matriptase gene DOID:9000081 Lymphatic Metastasis ISO RGD:733374 D RGD:9068941 20200609 RGD associated with Endometrial Neoplasms PMID:19443387|REF_RGD_ID:2315087 12092181 ST14 ST14 transmembrane serine protease matriptase gene DOID:9000965 Neoplasm Metastasis ISO RGD:733374 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:17456594|REF_RGD_ID:2315092 12092181 ST14 ST14 transmembrane serine protease matriptase gene DOID:9000965 Neoplasm Metastasis ISO RGD:733374 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:18813126|REF_RGD_ID:2315088 12092181 ST14 ST14 transmembrane serine protease matriptase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12092181 ST14 ST14 transmembrane serine protease matriptase gene DOID:9002189 High Myopia ISO RGD:733374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12092181 ST14 ST14 transmembrane serine protease matriptase gene DOID:9002304 Prostatic Neoplasms ISO RGD:733374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12092181 ST14 ST14 transmembrane serine protease matriptase gene DOID:9002304 Prostatic Neoplasms ISO RGD:733374 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18813126|REF_RGD_ID:2315088 12092181 ST14 ST14 transmembrane serine protease matriptase gene DOID:9002762 Ovarian Neoplasms ISO RGD:733374 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:16439987|REF_RGD_ID:2315091 12092181 ST14 ST14 transmembrane serine protease matriptase gene DOID:9003373 Uterine Cervical Neoplasms severity ISO RGD:733374 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:uterine cervix PMID:16021568|REF_RGD_ID:2315093 12092181 ST14 ST14 transmembrane serine protease matriptase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12092181 ST14 ST14 transmembrane serine protease matriptase gene DOID:9004265 Endometrioid Carcinomas ISO RGD:733374 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms;protein:increased expression:ovary PMID:16439987|REF_RGD_ID:2315091 12092181 ST14 ST14 transmembrane serine protease matriptase gene DOID:9007661 Dwarfism ISO RGD:733374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12092181 ST14 ST14 transmembrane serine protease matriptase gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:733374 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:19443387|REF_RGD_ID:2315087 12092181 ST14 ST14 transmembrane serine protease matriptase gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:733374 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17163404|REF_RGD_ID:2315089 12092202 NOC2L NOC2 like nucleolar associated transcriptional repressor gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1606804 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12092202 NOC2L NOC2 like nucleolar associated transcriptional repressor gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606804 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12092202 NOC2L NOC2 like nucleolar associated transcriptional repressor gene DOID:0110994 Joubert syndrome 25 ISO RGD:1606804 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12092202 NOC2L NOC2 like nucleolar associated transcriptional repressor gene DOID:0111934 immunodeficiency 38 ISO RGD:1606804 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12092202 NOC2L NOC2 like nucleolar associated transcriptional repressor gene DOID:0111935 immunodeficiency 16 ISO RGD:1606804 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12092202 NOC2L NOC2 like nucleolar associated transcriptional repressor gene DOID:630 genetic disease ISO RGD:1606804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12092202 NOC2L NOC2 like nucleolar associated transcriptional repressor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12092202 NOC2L NOC2 like nucleolar associated transcriptional repressor gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1606804 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12092227 CHMP1A charged multivesicular body protein 1A gene DOID:0060265 pontocerebellar hypoplasia type 1A ISO RGD:1346526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1A PMID:25741868 12092227 CHMP1A charged multivesicular body protein 1A gene DOID:0060277 pontocerebellar hypoplasia type 8 ISO RGD:1346526 D RGD:7240710 20180130 OMIM 12092227 CHMP1A charged multivesicular body protein 1A gene DOID:0060277 pontocerebellar hypoplasia type 8 ISO RGD:1346526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 8 PMID:18414213|PMID:23023333|PMID:25741868|PMID:28492532 12092227 CHMP1A charged multivesicular body protein 1A gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1346526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12092227 CHMP1A charged multivesicular body protein 1A gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1346526 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12092227 CHMP1A charged multivesicular body protein 1A gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1346526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 12092227 CHMP1A charged multivesicular body protein 1A gene DOID:1059 intellectual disability ISO RGD:1346526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12092227 CHMP1A charged multivesicular body protein 1A gene DOID:13636 Fanconi anemia ISO RGD:1346526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 12092227 CHMP1A charged multivesicular body protein 1A gene DOID:14780 KBG syndrome ISO RGD:1346526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 12092227 CHMP1A charged multivesicular body protein 1A gene DOID:630 genetic disease ISO RGD:1346526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:34148545 12092238 BRWD3 bromodomain and WD repeat domain containing 3 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1354337 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:28492532 12092238 BRWD3 bromodomain and WD repeat domain containing 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1354337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12092238 BRWD3 bromodomain and WD repeat domain containing 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12092238 BRWD3 bromodomain and WD repeat domain containing 3 gene DOID:0112045 non-syndromic X-linked intellectual disability 93 ISO RGD:1354337 D RGD:7240710 20180130 OMIM 12092238 BRWD3 bromodomain and WD repeat domain containing 3 gene DOID:0112045 non-syndromic X-linked intellectual disability 93 ISO RGD:1354337 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: BRWD3-Related Disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 93 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY PMID:17668385|PMID:18414213|PMID:25326637|PMID:25741868|PMID:28492532|PMID:30628072|PMID:36937954|PMID:7943039 12092238 BRWD3 bromodomain and WD repeat domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1354337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 12092238 BRWD3 bromodomain and WD repeat domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1354337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12092238 BRWD3 bromodomain and WD repeat domain containing 3 gene DOID:630 genetic disease ISO RGD:1354337 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21468892|PMID:25741868|PMID:28492532 12092238 BRWD3 bromodomain and WD repeat domain containing 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1354337 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:36937954 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:10534 stomach cancer ISO RGD:732178 D RGD:9068941 20200609 RGD mRNA:decreased expression:stomach (human) PMID:23808167|REF_RGD_ID:8548675 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:11394 adult respiratory distress syndrome ISO RGD:732178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:1205 allergic disease ISO RGD:2092 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16979157|REF_RGD_ID:1626088 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:736610 D RGD:9068941 20200609 RGD PMID:10913167|REF_RGD_ID:8548674 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:2349 arteriosclerosis ISO RGD:732178 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16127462|REF_RGD_ID:1626081 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:289 endometriosis ISO RGD:732178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25446850 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:4195 hyperglycemia ISO RGD:2092 D RGD:9068941 20200609 RGD protein:increased expression:brain, liver PMID:17211565|REF_RGD_ID:1626079 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:4500 hypokalemia ISO RGD:2092 D RGD:9068941 20200609 RGD PMID:17409277|REF_RGD_ID:1626084 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:630 genetic disease ISO RGD:732178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:684 hepatocellular carcinoma ISO RGD:2092 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:21683810|REF_RGD_ID:5509919 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:684 hepatocellular carcinoma ISO RGD:732178 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:19422879|REF_RGD_ID:8548685 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:83 cataract ISO RGD:2092 D RGD:9068941 20200609 RGD associated with Galactosemia PMID:17444799|REF_RGD_ID:1626083 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:83 cataract ISO RGD:732178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21329682|PMID:21376710|PMID:25541468|PMID:28137510 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:83 cataract ISO RGD:732178 D RGD:9068941 20200609 RGD human gene in mouse model PMID:21329682|REF_RGD_ID:8548638 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:83 cataract susceptibility ISO RGD:732178 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:promoter:repeat:g.(AC)n (human) PMID:24360973|REF_RGD_ID:8548672 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:83 cataract treatment ISO RGD:2092 D RGD:9068941 20200609 RGD PMID:18452283|REF_RGD_ID:8548671 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:8947 diabetic retinopathy ISO RGD:2092 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17003340|REF_RGD_ID:1626080 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:8947 diabetic retinopathy ISO RGD:2092 D RGD:9068941 20200609 RGD protein:increased expression:retinal astrocyte (rat) PMID:8150024|REF_RGD_ID:8548684 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:8947 diabetic retinopathy no_association ISO RGD:732178 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:promoter:repeat:g.-2008(AC)n (rs35839483) (human) PMID:21067572|REF_RGD_ID:8548676 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:732178 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snp:promoter:g.-106C>T (human) PMID:16701918|REF_RGD_ID:8548668 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:732178 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;DNA:repeats, snp:promoter:multiple (human) PMID:19587357|REF_RGD_ID:8548640 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9001542 Albuminuria ISO RGD:732178 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;human gene in a rat model PMID:12166624|REF_RGD_ID:8548813 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9002165 Diabetic Nephropathies ISO RGD:732178 D RGD:9068941 20200609 RGD PMID:9215310|REF_RGD_ID:734542 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:732178 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:promoter:repeat:g.?(AC)n (human) PMID:9000706|REF_RGD_ID:8548641 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9002211 Hyperalgesia ISO RGD:2092 D RGD:9068941 20200609 RGD associated with Hyperglycemia PMID:12505670|REF_RGD_ID:1626082 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9002661 Diabetes Complications ISO RGD:732178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25304492|PMID:25541468 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9005372 Inflammation ISO RGD:736610 D RGD:9068941 20200609 RGD PMID:17030682|REF_RGD_ID:1626087 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2092 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:8204669|REF_RGD_ID:8548781 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9007102 Myocardial Ischemia ISO RGD:2092 D RGD:9068941 20200609 RGD protein:increased activity:heart PMID:16567803|REF_RGD_ID:1626092 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9007715 Endometrial Neoplasms ISO RGD:732178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23146748 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9008609 Endotoxin-Induced Uveitis treatment ISO RGD:2092 D RGD:9068941 20200609 RGD PMID:17898287|REF_RGD_ID:8548683 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:732178 D RGD:9068941 20200609 RGD DNA:repeat, snp:promoter:g.(AC)n, g.-106C>T (human) PMID:15569136|REF_RGD_ID:8548678 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9743 diabetic neuropathy ISO RGD:2092 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16900242|REF_RGD_ID:1626089 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9743 diabetic neuropathy susceptibility ISO RGD:732178 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:repeat:promoter:g.(CA)n (human) PMID:9489533|REF_RGD_ID:8548642 12092288 AKR1B1 aldo-keto reductase family 1 member B gene DOID:9870 galactosemia ISO RGD:2092 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell, lens PMID:16936110|REF_RGD_ID:1599728 12092316 RAP2B RAP2B, member of RAS oncogene family gene DOID:630 genetic disease ISO RGD:736861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12092321 MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:0060067 Pearson syndrome ISO RGD:1347448 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pearson syndrome PMID:32906214|PMID:33633954 12092321 MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1347448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:18524835 12092321 MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:1347448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24088041|PMID:26633545 12092321 MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:12934 Kearns-Sayre syndrome ISO RGD:1347448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kearns-Sayre syndrome PMID:20301382 12092321 MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:14791 Leber congenital amaurosis ISO RGD:1347448 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leber's disease PMID:20018511|PMID:25741868 12092321 MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:310 MERRF Syndrome ISO RGD:1347448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MERRF syndrome PMID:15767514|PMID:16816025|PMID:17400793|PMID:18332249 12092321 MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:3652 Leigh disease ISO RGD:1347448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:10589546|PMID:11102991|PMID:11198278|PMID:11938446|PMID:12624137|PMID:1417830|PMID:14520659|PMID:14730434|PMID:15521990|PMID:16306525|PMID:17003408|PMID:17264866|PMID:17317336|PMID:1732158|PMID:17400793|PMID:17535832|PMID:1764087|PMID:17940288|PMID:18246027|PMID:18332249|PMID:18524835|PMID:18977334|PMID:1900003|PMID:20301353|PMID:21131053|PMID:22780954|PMID:23463613|PMID:25701779|PMID:25741868|PMID:27422531|PMID:29987491|PMID:30143805|PMID:9299505 12092321 MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:3652 Leigh disease ISO RGD:1347448 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease PMID:10589546|PMID:11102991|PMID:11198278|PMID:11938446|PMID:12624137|PMID:1417830|PMID:14520659|PMID:14730434|PMID:15521990|PMID:16306525|PMID:17003408|PMID:17264866|PMID:17317336|PMID:1732158|PMID:17400793|PMID:17535832|PMID:1764087|PMID:17940288|PMID:18246027|PMID:18332249|PMID:18524835|PMID:18977334|PMID:1900003|PMID:20301353|PMID:21131053|PMID:22022272|PMID:22780954|PMID:23463613|PMID:25701779|PMID:25741868|PMID:27422531|PMID:29987491|PMID:30143805|PMID:9299505 12092321 MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:3687 MELAS syndrome ISO RGD:1347448 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes PMID:10589546|PMID:12509858|PMID:12624137|PMID:12796552|PMID:14520659|PMID:14730434|PMID:15767514|PMID:16306525|PMID:16816025|PMID:17400793|PMID:18332249|PMID:18977334|PMID:20018511|PMID:22022272|PMID:22249460|PMID:22577219|PMID:25741868|PMID:26894521|PMID:9299505 12092321 MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:684 hepatocellular carcinoma ISO RGD:620560 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:2507335|REF_RGD_ID:2302316 12092321 MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:700 mitochondrial metabolism disease ISO RGD:1347448 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:10589546|PMID:11198278|PMID:11938446|PMID:12624137|PMID:12736867|PMID:14520659|PMID:14730434|PMID:15521990|PMID:15767514|PMID:16306525|PMID:16816025|PMID:17317336|PMID:17400793|PMID:18332249|PMID:18977334|PMID:20301382|PMID:22249460|PMID:22577219|PMID:25741868|PMID:27164671|PMID:9299505 12092321 MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1347448 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy PMID:11938446|PMID:12509858|PMID:12736867|PMID:1417830|PMID:15767514|PMID:16240359|PMID:16816025|PMID:17317336|PMID:1732158|PMID:17400793|PMID:17535832|PMID:1764087|PMID:18332249|PMID:18977334|PMID:1900003|PMID:20018511|PMID:20301353|PMID:21131053|PMID:22022272|PMID:22249460|PMID:22577219|PMID:25741868|PMID:27164671|PMID:30143805|PMID:8213825 12092321 MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:9004538 Hearing Loss ISO RGD:1347448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28027978 12092321 MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:9007525 Leigh Syndrome Due To Mitochondrial Complex I Deficiency ISO RGD:1347448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome due to mitochondrial complex I deficiency PMID:10589546|PMID:11938446|PMID:12509858|PMID:12624137|PMID:12796552|PMID:14520659|PMID:14730434|PMID:15767514|PMID:16306525|PMID:16816025|PMID:17317336|PMID:17400793|PMID:18332249|PMID:25741868|PMID:9299505 12092321 MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:9007527 Mitochondrial Myopathy, Infantile, Transient ISO RGD:1347448 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient PMID:20018511|PMID:25741868 12092322 ZAP70 zeta chain of T cell receptor associated protein kinase 70 gene DOID:0111943 immunodeficiency 48 ISO RGD:1349191 D RGD:7240710 20180130 OMIM 12092322 ZAP70 zeta chain of T cell receptor associated protein kinase 70 gene DOID:0111943 immunodeficiency 48 ISO RGD:1349191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to ZAP70 deficiency | ClinVar Annotator: match by term: ZAP70-Related Severe Combined Immunodeficiency PMID:10574909|PMID:11412303|PMID:16199547|PMID:17576681|PMID:20301777|PMID:21441961|PMID:24033266|PMID:24164480|PMID:25627829|PMID:25741868|PMID:26783323|PMID:27448562|PMID:28124082|PMID:28216435|PMID:28492532|PMID:29684201|PMID:30778343|PMID:8124727|PMID:8202712|PMID:8202713|PMID:9536098 12092322 ZAP70 zeta chain of T cell receptor associated protein kinase 70 gene DOID:0111962 combined immunodeficiency ISO RGD:1349191 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:20301777|PMID:25627829|PMID:25741868|PMID:26783323|PMID:28492532 12092322 ZAP70 zeta chain of T cell receptor associated protein kinase 70 gene DOID:612 primary immunodeficiency disease ISO RGD:1349191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17767948 12092322 ZAP70 zeta chain of T cell receptor associated protein kinase 70 gene DOID:627 severe combined immunodeficiency ISO RGD:1349191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:28492532 12092322 ZAP70 zeta chain of T cell receptor associated protein kinase 70 gene DOID:630 genetic disease ISO RGD:1349191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12092322 ZAP70 zeta chain of T cell receptor associated protein kinase 70 gene DOID:7148 rheumatoid arthritis ISO RGD:11501 D RGD:9068941 20220825 MouseDO OMIM:180300 12092322 ZAP70 zeta chain of T cell receptor associated protein kinase 70 gene DOID:9003794 T Cell Immunodeficiency Primary ISO RGD:1349191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8124727 12092322 ZAP70 zeta chain of T cell receptor associated protein kinase 70 gene DOID:9005984 Multisystem Autoimmune Disease, Infantile-Onset, 2 ISO RGD:1349191 D RGD:7240710 20190315 OMIM 12092322 ZAP70 zeta chain of T cell receptor associated protein kinase 70 gene DOID:9005984 Multisystem Autoimmune Disease, Infantile-Onset, 2 ISO RGD:1349191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune disease, multisystem, infantile-onset, 2 PMID:20301777|PMID:25627829|PMID:25741868|PMID:26783323|PMID:28492532 12092350 PRR9 proline rich 9 gene DOID:0111940 immunodeficiency 42 ISO RGD:4143661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12092350 PRR9 proline rich 9 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:4143661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12092350 PRR9 proline rich 9 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:4143661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12092350 PRR9 proline rich 9 gene DOID:1540 parathyroid carcinoma ISO RGD:4143661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12092350 PRR9 proline rich 9 gene DOID:5812 MHC class II deficiency ISO RGD:4143661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12092350 PRR9 proline rich 9 gene DOID:630 genetic disease ISO RGD:4143661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12092350 PRR9 proline rich 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:4143661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12092359 STAB2 stabilin 2 gene DOID:630 genetic disease ISO RGD:1349105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12092359 STAB2 stabilin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1349105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12092359 STAB2 stabilin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12092431 TRAF6 TNF receptor associated factor 6 gene DOID:0060036 intrinsic cardiomyopathy ISO RGD:1315706 D RGD:9068941 20221110 RGD protein:increased expression:heart (human) PMID:27249171|REF_RGD_ID:155646134 12092431 TRAF6 TNF receptor associated factor 6 gene DOID:1059 intellectual disability ISO RGD:1315706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12092431 TRAF6 TNF receptor associated factor 6 gene DOID:14793 hypohidrotic ectodermal dysplasia ISO RGD:1315707 D RGD:9068941 20220825 MouseDO OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 12092431 TRAF6 TNF receptor associated factor 6 gene DOID:2600 laryngeal carcinoma disease_progression ISO RGD:1315706 D RGD:9068941 20220114 RGD PMID:20164024|REF_RGD_ID:150573814 12092431 TRAF6 TNF receptor associated factor 6 gene DOID:3393 coronary artery disease ISO RGD:1315706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20524934 12092431 TRAF6 TNF receptor associated factor 6 gene DOID:630 genetic disease ISO RGD:1315706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12092431 TRAF6 TNF receptor associated factor 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1315706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 12092431 TRAF6 TNF receptor associated factor 6 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:1306853 D RGD:9068941 20220121 RGD PMID:27538408|REF_RGD_ID:151347179 12092431 Traf6 TNF receptor-associated factor 6 gene DOID:11984 hypertrophic cardiomyopathy treatment ISO RGD:1315707 D RGD:9068941 20221110 RGD protein:increased expression:heart (human) PMID:27249171|REF_RGD_ID:155646134 12092478 CITED1 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12092478 CITED1 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 gene DOID:12849 autistic disorder ISO RGD:1344879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12092478 CITED1 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 gene DOID:630 genetic disease ISO RGD:1344879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12092478 CITED1 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:734446 D RGD:9068941 20221103 RGD mRNA:altered expression:kidney (mouse) PMID:18467665|REF_RGD_ID:155631277 12092503 FIZ1 FLT3 interacting zinc finger 1 gene DOID:630 genetic disease ISO RGD:1605920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12092598 LOC490972 transmembrane protein C17orf113 gene DOID:630 genetic disease ISO RGD:1604507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12092624 BORCS6 BLOC-1 related complex subunit 6 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1603302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12092624 BORCS6 BLOC-1 related complex subunit 6 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1603302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 12092624 BORCS6 BLOC-1 related complex subunit 6 gene DOID:12177 common variable immunodeficiency ISO RGD:1603302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12092624 BORCS6 BLOC-1 related complex subunit 6 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12092624 BORCS6 BLOC-1 related complex subunit 6 gene DOID:2729 dyskeratosis congenita ISO RGD:1603302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12092624 BORCS6 BLOC-1 related complex subunit 6 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1603302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12092624 BORCS6 BLOC-1 related complex subunit 6 gene DOID:630 genetic disease ISO RGD:1603302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12092636 HGFAC HGF activator gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1350664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12092636 HGFAC HGF activator gene DOID:1856 cherubism ISO RGD:1350664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12092636 HGFAC HGF activator gene DOID:630 genetic disease ISO RGD:1350664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12092636 HGFAC HGF activator gene DOID:684 hepatocellular carcinoma ISO RGD:1350664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 12092636 HGFAC HGF activator gene DOID:8778 Crohn's disease ISO RGD:1350664 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 12092660 EDNRA endothelin receptor type A gene DOID:0050848 obstructive sleep apnea ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:19358946|REF_RGD_ID:4145067 12092660 EDNRA endothelin receptor type A gene DOID:0050848 obstructive sleep apnea ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20083432 12092660 EDNRA endothelin receptor type A gene DOID:0050848 obstructive sleep apnea ISO RGD:737537 D RGD:9068941 20200609 RGD DNA:polymorphism: :-231G>A (human) PMID:20083432|REF_RGD_ID:4892306 12092660 EDNRA endothelin receptor type A gene DOID:0050855 renal fibrosis ISO RGD:2535 D RGD:9068941 20200609 RGD associated with Ureteral obstruction;mRNA:increased expression:kidney PMID:11078391|REF_RGD_ID:7244179 12092660 EDNRA endothelin receptor type A gene DOID:0060365 mandibulofacial dysostosis with alopecia ISO RGD:737537 D RGD:7240710 20180130 OMIM 12092660 EDNRA endothelin receptor type A gene DOID:0060365 mandibulofacial dysostosis with alopecia ISO RGD:737537 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mandibulofacial dysostosis with alopecia PMID:16116593|PMID:20583178|PMID:25741868|PMID:25772936|PMID:28492532 12092660 EDNRA endothelin receptor type A gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:737537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 12092660 EDNRA endothelin receptor type A gene DOID:10247 pleurisy ISO RGD:737538 D RGD:9068941 20200609 RGD PMID:15107459|REF_RGD_ID:4892325 12092660 EDNRA endothelin receptor type A gene DOID:10762 portal hypertension ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:17214938|REF_RGD_ID:4892595 12092660 EDNRA endothelin receptor type A gene DOID:10763 hypertension ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:16157796|REF_RGD_ID:1581830 12092660 EDNRA endothelin receptor type A gene DOID:10763 hypertension ISO RGD:2535 D RGD:9068941 20200609 RGD associated with Uremia PMID:20144075|REF_RGD_ID:4892284 12092660 EDNRA endothelin receptor type A gene DOID:10763 hypertension ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12600921 12092660 EDNRA endothelin receptor type A gene DOID:10763 hypertension ISO RGD:737537 D RGD:9068941 20200609 RGD PMID:14616768|REF_RGD_ID:1580950 12092660 EDNRA endothelin receptor type A gene DOID:1184 nephrotic syndrome ISO RGD:2535 D RGD:9068941 20200609 RGD mRNA:increased expression:Glomerulus PMID:12972712|REF_RGD_ID:7244242 12092660 EDNRA endothelin receptor type A gene DOID:12583 velocardiofacial syndrome ISO RGD:737538 D RGD:9068941 20220825 MouseDO OMIM:192430 12092660 EDNRA endothelin receptor type A gene DOID:1682 congenital heart disease ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9811577 12092660 EDNRA endothelin receptor type A gene DOID:1875 impotence ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:17420087|REF_RGD_ID:2292142 12092660 EDNRA endothelin receptor type A gene DOID:1875 impotence ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18823320 12092660 EDNRA endothelin receptor type A gene DOID:2841 asthma ISO RGD:737538 D RGD:9068941 20200609 RGD PMID:17448648|PMID:18632188|REF_RGD_ID:4892288|REF_RGD_ID:4892322 12092660 EDNRA endothelin receptor type A gene DOID:5844 myocardial infarction ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:12524016|REF_RGD_ID:1580948 12092660 EDNRA endothelin receptor type A gene DOID:6000 congestive heart failure ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28095452 12092660 EDNRA endothelin receptor type A gene DOID:630 genetic disease ISO RGD:737537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12092660 EDNRA endothelin receptor type A gene DOID:6364 migraine ISO RGD:737537 D RGD:7240710 20230505 OMIM 12092660 EDNRA endothelin receptor type A gene DOID:6364 migraine ISO RGD:737537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Migraine, resistance to PMID:11376172|PMID:23058564 12092660 EDNRA endothelin receptor type A gene DOID:6432 pulmonary hypertension ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:15243299|PMID:20531217|REF_RGD_ID:1580949|REF_RGD_ID:4892283 12092660 EDNRA endothelin receptor type A gene DOID:6432 pulmonary hypertension ISO RGD:737537 D RGD:9068941 20200609 RGD PMID:18506008|PMID:20562228|REF_RGD_ID:4144877|REF_RGD_ID:4892320 12092660 EDNRA endothelin receptor type A gene DOID:850 lung disease severity ISO RGD:737537 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:20028935|REF_RGD_ID:4892286 12092660 EDNRA endothelin receptor type A gene DOID:9000918 Disease Progression ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194819 12092660 EDNRA endothelin receptor type A gene DOID:9000965 Neoplasm Metastasis ISO RGD:737538 D RGD:9068941 20200609 RGD associated with Bladder Neoplasms PMID:21183790|REF_RGD_ID:4892282 12092660 EDNRA endothelin receptor type A gene DOID:9002165 Diabetic Nephropathies ISO RGD:2535 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21191784|REF_RGD_ID:4892326 12092660 EDNRA endothelin receptor type A gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:737538 D RGD:9068941 20200609 RGD PMID:9649553|REF_RGD_ID:734910 12092660 EDNRA endothelin receptor type A gene DOID:9002762 Ovarian Neoplasms ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194819 12092660 EDNRA endothelin receptor type A gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17032313 12092660 EDNRA endothelin receptor type A gene DOID:9005372 Inflammation ISO RGD:737538 D RGD:9068941 20200609 RGD PMID:18632188|REF_RGD_ID:4892288 12092660 EDNRA endothelin receptor type A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:20690982|REF_RGD_ID:4892336 12092660 EDNRA endothelin receptor type A gene DOID:9007096 Stroke ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:17597600|REF_RGD_ID:4892584 12092660 EDNRA endothelin receptor type A gene DOID:9007096 Stroke ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 12092660 EDNRA endothelin receptor type A gene DOID:9007102 Myocardial Ischemia ISO RGD:737537 D RGD:9068941 20200609 RGD PMID:14729387|REF_RGD_ID:1580946 12092660 EDNRA endothelin receptor type A gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:12799311|REF_RGD_ID:1581841 12092660 EDNRA endothelin receptor type A gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:18586023|REF_RGD_ID:4892580 12092660 EDNRA endothelin receptor type A gene DOID:9008091 Optic Nerve Injuries ISO RGD:2535 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:18600494|REF_RGD_ID:4892579 12092660 EDNRA endothelin receptor type A gene DOID:9008731 Craniofacial Abnormalities ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17294360|PMID:9811577 12092660 EDNRA endothelin receptor type A gene DOID:9009073 Diaphragmatic Hernia ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10693666|PMID:9473106 12092660 EDNRA endothelin receptor type A gene DOID:9279 hyperhomocysteinemia ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:19371338|REF_RGD_ID:4892572 12092660 EDNRA endothelin receptor type A gene DOID:9352 type 2 diabetes mellitus ISO RGD:2535 D RGD:9068941 20200609 RGD protein:increased expression:mesenteric artery PMID:19286964|REF_RGD_ID:2313280 12092660 EDNRA endothelin receptor type A gene DOID:9352 type 2 diabetes mellitus ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16387788 12092660 EDNRA endothelin receptor type A gene DOID:9675 pulmonary emphysema ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:19897563|REF_RGD_ID:4892307 12092681 PEX11B peroxisomal biogenesis factor 11 beta gene DOID:0050444 infantile Refsum disease ISO RGD:1321208 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL 12092681 PEX11B peroxisomal biogenesis factor 11 beta gene DOID:0081274 peroxisome biogenesis disorder 14B ISO RGD:1321208 D RGD:7240710 20180130 OMIM 12092681 PEX11B peroxisomal biogenesis factor 11 beta gene DOID:0081274 peroxisome biogenesis disorder 14B ISO RGD:1321208 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 14B PMID:10704444|PMID:20826455|PMID:22581968|PMID:25741868|PMID:28129423|PMID:28492532|PMID:31724321 12092681 PEX11B peroxisomal biogenesis factor 11 beta gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1321208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 12092681 PEX11B peroxisomal biogenesis factor 11 beta gene DOID:1540 parathyroid carcinoma ISO RGD:1321208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12092681 PEX11B peroxisomal biogenesis factor 11 beta gene DOID:5419 schizophrenia ISO RGD:1321208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12092681 PEX11B peroxisomal biogenesis factor 11 beta gene DOID:630 genetic disease ISO RGD:1321208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12092681 PEX11B peroxisomal biogenesis factor 11 beta gene DOID:83 cataract ISO RGD:1321208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract 12092681 PEX11B peroxisomal biogenesis factor 11 beta gene DOID:905 Zellweger syndrome ISO RGD:1321208 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum 12092681 PEX11B peroxisomal biogenesis factor 11 beta gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12092695 ATP8B1 ATPase phospholipid transporting 8B1 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1318284 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 12092695 ATP8B1 ATPase phospholipid transporting 8B1 gene DOID:0070221 progressive familial intrahepatic cholestasis ISO RGD:1318284 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis PMID:14988830|PMID:15239083|PMID:19731236|PMID:19918981|PMID:20232290|PMID:25741868|PMID:26382629|PMID:26858187|PMID:26879107|PMID:31450232|PMID:33437900|PMID:33666275|PMID:34543749|PMID:5807632|PMID:9500542|PMID:9918928 12092695 ATP8B1 ATPase phospholipid transporting 8B1 gene DOID:0070222 progressive familial intrahepatic cholestasis 2 ISO RGD:1318284 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2 PMID:15239083|PMID:15888793|PMID:19731236|PMID:20981092|PMID:22995991|PMID:25741868|PMID:28492532 12092695 ATP8B1 ATPase phospholipid transporting 8B1 gene DOID:0070226 progressive familial intrahepatic cholestasis 1 ISO RGD:1318284 D RGD:7240710 20180130 OMIM 12092695 ATP8B1 ATPase phospholipid transporting 8B1 gene DOID:0070226 progressive familial intrahepatic cholestasis 1 ISO RGD:1318284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Byler disease | ClinVar Annotator: match by term: Byler's disease PMID:11093741|PMID:12149765|PMID:14976163|PMID:14988830|PMID:15239083|PMID:15317749|PMID:15657619|PMID:15888793|PMID:16374853|PMID:1774530|PMID:18937870|PMID:19731236|PMID:19918981|PMID:20038848|PMID:20232290|PMID:20852622|PMID:20981092|PMID:22525741|PMID:22995991|PMID:24033266|PMID:24260417|PMID:25741868|PMID:26126923|PMID:26594346|PMID:26756876|PMID:26879107|PMID:27050426|PMID:28045770|PMID:28492532|PMID:28733223|PMID:28776642|PMID:28924228|PMID:29238877|PMID:30366773|PMID:32650689|PMID:33223529|PMID:33666275|PMID:5762004|PMID:5807632|PMID:9500542|PMID:9918928 12092695 ATP8B1 ATPase phospholipid transporting 8B1 gene DOID:0070227 intrahepatic cholestasis of pregnancy ISO RGD:1318284 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12092695 ATP8B1 ATPase phospholipid transporting 8B1 gene DOID:0070228 intrahepatic cholestasis of pregnancy 1 ISO RGD:1318284 D RGD:7240710 20180912 OMIM 12092695 ATP8B1 ATPase phospholipid transporting 8B1 gene DOID:0070228 intrahepatic cholestasis of pregnancy 1 ISO RGD:1318284 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHOLESTASIS, PREGNANCY-RELATED, 1 | ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 1 PMID:15239083|PMID:15657619|PMID:15888793|PMID:19731236|PMID:20981092|PMID:22995991|PMID:24033266|PMID:24260417|PMID:25741868|PMID:26126923|PMID:28492532|PMID:28924228|PMID:29238877|PMID:32650689|PMID:33223529 12092695 ATP8B1 ATPase phospholipid transporting 8B1 gene DOID:0070231 benign recurrent intrahepatic cholestasis 1 ISO RGD:1318284 D RGD:7240710 20180912 OMIM 12092695 ATP8B1 ATPase phospholipid transporting 8B1 gene DOID:0070231 benign recurrent intrahepatic cholestasis 1 ISO RGD:1318284 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Summerskill syndrome PMID:15239083|PMID:15657619|PMID:15888793|PMID:19731236|PMID:19918981|PMID:20981092|PMID:22995991|PMID:24033266|PMID:24260417|PMID:25741868|PMID:26126923|PMID:26879107|PMID:28492532|PMID:28924228|PMID:29238877|PMID:32650689|PMID:33666275|PMID:5807632|PMID:7894490|PMID:9500542|PMID:9918928 12092695 ATP8B1 ATPase phospholipid transporting 8B1 gene DOID:0111988 immunodeficiency 12 ISO RGD:1318284 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 12092695 ATP8B1 ATPase phospholipid transporting 8B1 gene DOID:1852 intrahepatic cholestasis ISO RGD:1318284 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Progressive intrahepatic cholestasis PMID:14988830|PMID:15239083|PMID:19731236|PMID:19918981|PMID:20232290|PMID:25741868|PMID:26879107|PMID:33666275|PMID:5807632|PMID:9500542|PMID:9918928 12092695 ATP8B1 ATPase phospholipid transporting 8B1 gene DOID:1852 intrahepatic cholestasis susceptibility ISO RGD:1318284 D RGD:9068941 20200609 RGD DNA:mutation PMID:9500542|REF_RGD_ID:1599397 12092695 ATP8B1 ATPase phospholipid transporting 8B1 gene DOID:630 genetic disease ISO RGD:1318284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14988830|PMID:15239083|PMID:20232290|PMID:25741868|PMID:28492532|PMID:33666275 12092733 MAP1B microtubule associated protein 1B gene DOID:0050454 periventricular nodular heterotopia ISO RGD:733041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia PMID:25741868|PMID:29738522|PMID:30150678 12092733 MAP1B microtubule associated protein 1B gene DOID:0060041 autism spectrum disorder ISO RGD:733041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30150678 12092733 MAP1B microtubule associated protein 1B gene DOID:11832 visual epilepsy ISO RGD:3043 D RGD:9068941 20220728 RGD mRNA, protein:altered localization:brain PMID:11395167|REF_RGD_ID:2304062 12092733 MAP1B microtubule associated protein 1B gene DOID:11832 visual epilepsy ISO RGD:3043 D RGD:9068941 20220728 RGD mRNA:increased expression:hippocampus PMID:12598335|REF_RGD_ID:2304015 12092733 MAP1B microtubule associated protein 1B gene DOID:1459 hypothyroidism ISO RGD:3043 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum PMID:3252178|REF_RGD_ID:2304042 12092733 MAP1B microtubule associated protein 1B gene DOID:1826 epilepsy ISO RGD:733041 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12092733 MAP1B microtubule associated protein 1B gene DOID:630 genetic disease ISO RGD:733041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12092733 MAP1B microtubule associated protein 1B gene DOID:9000039 Spinal Cord Injuries ISO RGD:3043 D RGD:9068941 20200609 RGD protein:increased phosphorylation:spinal cord, neuron PMID:17880387|REF_RGD_ID:2304007 12092733 MAP1B microtubule associated protein 1B gene DOID:9000998 Brain Injuries ISO RGD:3043 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:brain PMID:10906717|REF_RGD_ID:2304029 12092733 MAP1B microtubule associated protein 1B gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:733041 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12092733 MAP1B microtubule associated protein 1B gene DOID:9001401 Periventricular Nodular Heterotopia 9 ISO RGD:733041 D RGD:7240710 20200701 OMIM 12092733 MAP1B microtubule associated protein 1B gene DOID:9001401 Periventricular Nodular Heterotopia 9 ISO RGD:733041 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 9 PMID:25741868|PMID:28492532|PMID:29738522|PMID:30150678|PMID:30979967|PMID:31317654|PMID:33268592 12092733 MAP1B microtubule associated protein 1B gene DOID:9003741 Autosomal Dominant Nonsyndromic Deafness 83 ISO RGD:733041 D RGD:7240710 20220413 OMIM 12092733 MAP1B microtubule associated protein 1B gene DOID:9003741 Autosomal Dominant Nonsyndromic Deafness 83 ISO RGD:733041 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 83 PMID:25741868|PMID:33268592 12092733 MAP1B microtubule associated protein 1B gene DOID:9003816 Macrocephaly ISO RGD:733041 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868 12092733 MAP1B microtubule associated protein 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30150678 12092733 MAP1B microtubule associated protein 1B gene DOID:9008086 Developmental Disabilities ISO RGD:733041 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:30979967 12092744 COX5A cytochrome c oxidase subunit Va gene DOID:0080600 COVID-19 ISO RGD:732301 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12092744 COX5A cytochrome c oxidase subunit Va gene DOID:2717 Bloom syndrome ISO RGD:732301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12092744 COX5A cytochrome c oxidase subunit Va gene DOID:5419 schizophrenia ISO RGD:732301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12092744 COX5A cytochrome c oxidase subunit Va gene DOID:630 genetic disease ISO RGD:732301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12092744 COX5A cytochrome c oxidase subunit Va gene DOID:9004621 Mitochondrial Complex IV Deficiency, Nuclear Type 20 ISO RGD:732301 D RGD:7240710 20201111 OMIM 12092744 COX5A cytochrome c oxidase subunit Va gene DOID:9004621 Mitochondrial Complex IV Deficiency, Nuclear Type 20 ISO RGD:732301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 PMID:28247525 12092744 COX5A cytochrome c oxidase subunit Va gene DOID:9256 colorectal cancer ISO RGD:732301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12092753 PLAAT1 phospholipase A and acyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1319850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12092753 PLAAT1 phospholipase A and acyltransferase 1 gene DOID:630 genetic disease ISO RGD:1319850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12092776 GHITM growth hormone inducible transmembrane protein gene DOID:630 genetic disease ISO RGD:1345873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12092795 CCNG1 cyclin G1 gene DOID:0050933 ovarian serous carcinoma severity ISO RGD:735830 D RGD:9068941 20220303 RGD mRNA, protein:increased expression:ovary (human) PMID:30565428|REF_RGD_ID:151361205 12092795 CCNG1 cyclin G1 gene DOID:0081292 traumatic brain injury treatment ISO RGD:2295 D RGD:9068941 20220218 RGD PMID:18612315|PMID:24398934|REF_RGD_ID:151356934|REF_RGD_ID:151356935 12092795 CCNG1 cyclin G1 gene DOID:10652 Alzheimer's disease ISO RGD:735830 D RGD:9068941 20200609 RGD protein:increased expression:brain, neuron PMID:12214116|REF_RGD_ID:2316025 12092795 CCNG1 cyclin G1 gene DOID:11054 urinary bladder cancer ISO RGD:735830 D RGD:9068941 20220303 RGD mRNA:decreased expression:bladder (human) PMID:27982046|REF_RGD_ID:151361200 12092795 CCNG1 cyclin G1 gene DOID:1115 sarcoma ISO RGD:735830 D RGD:9068941 20220303 RGD mRNA:decreased expression: (human) PMID:27982046|REF_RGD_ID:151361200 12092795 CCNG1 cyclin G1 gene DOID:1115 sarcoma treatment ISO RGD:735830 D RGD:9068941 20220303 RGD PMID:19532136|REF_RGD_ID:151361204 12092795 CCNG1 cyclin G1 gene DOID:11166 papillomavirus infectious disease disease_progression ISO RGD:735830 D RGD:9068941 20220225 RGD associated with cervix carcinoma; protein:increased expression:cervix (human) PMID:16845792|REF_RGD_ID:2316022 12092795 CCNG1 cyclin G1 gene DOID:11934 head and neck cancer ISO RGD:735830 D RGD:9068941 20220303 RGD mRNA:decreased expression:head and neck (human) PMID:27982046|REF_RGD_ID:151361200 12092795 CCNG1 cyclin G1 gene DOID:127 leiomyoma ISO RGD:735830 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:uterus, myometrium PMID:12634633|REF_RGD_ID:2316023 12092795 CCNG1 cyclin G1 gene DOID:1324 lung cancer treatment ISO RGD:735830 D RGD:9068941 20220224 RGD human cells in mouse model PMID:25472877|REF_RGD_ID:151361106 12092795 CCNG1 cyclin G1 gene DOID:1612 breast cancer treatment ISO RGD:2295 D RGD:9068941 20220217 RGD PMID:23791885|REF_RGD_ID:151356928 12092795 CCNG1 cyclin G1 gene DOID:1793 pancreatic cancer treatment ISO RGD:735830 D RGD:9068941 20220224 RGD human cells in mouse model PMID:11177556|REF_RGD_ID:151361109 12092795 CCNG1 cyclin G1 gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:735830 D RGD:9068941 20220224 RGD protein:increased expression:ovary (human) PMID:25981880|REF_RGD_ID:11055572 12092795 CCNG1 cyclin G1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:5552939 D RGD:9068941 20220224 RGD human cells in mouse model PMID:33760168|REF_RGD_ID:151356990 12092795 CCNG1 cyclin G1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:735830 D RGD:9068941 20220224 RGD DNA:amplification:ovary (human) PMID:22056875|REF_RGD_ID:151361152 12092795 CCNG1 cyclin G1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:735830 D RGD:9068941 20220224 RGD mRNA:increased expression:ovary (human) PMID:32271408|REF_RGD_ID:151356992 12092795 CCNG1 cyclin G1 gene DOID:3356 localized osteosarcoma treatment ISO RGD:735830 D RGD:9068941 20220224 RGD human cells in mouse model PMID:9322869|REF_RGD_ID:151356969 12092795 CCNG1 cyclin G1 gene DOID:3458 breast adenocarcinoma ISO RGD:735831 D RGD:9068941 20220303 RGD mRNA, protein:altered expression:mammary (mouse) PMID:11146550|REF_RGD_ID:2315939 12092795 CCNG1 cyclin G1 gene DOID:4001 ovarian carcinoma ISO RGD:1349177 D RGD:9068941 20220224 RGD human cells in mouse model PMID:26872615|REF_RGD_ID:11555725 12092795 CCNG1 cyclin G1 gene DOID:4001 ovarian carcinoma ISO RGD:735830 D RGD:9068941 20220224 RGD mRNA:increased expression:ovary (human) PMID:26872615|REF_RGD_ID:11555725 12092795 CCNG1 cyclin G1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12092795 CCNG1 cyclin G1 gene DOID:630 genetic disease ISO RGD:735830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12092795 CCNG1 cyclin G1 gene DOID:684 hepatocellular carcinoma ISO RGD:620761 D RGD:9068941 20220217 RGD PMID:25431954|REF_RGD_ID:151356922 12092795 CCNG1 cyclin G1 gene DOID:684 hepatocellular carcinoma ISO RGD:735830 D RGD:9068941 20220224 RGD human cells in mouse model PMID:23804702|REF_RGD_ID:151356967 12092795 CCNG1 cyclin G1 gene DOID:684 hepatocellular carcinoma ISO RGD:735831 D RGD:9068941 20220303 RGD PMID:27982046|REF_RGD_ID:151361200 12092795 CCNG1 cyclin G1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735830 D RGD:9068941 20220224 RGD protein:increased expression:liver (human) PMID:23804702|REF_RGD_ID:151356967 12092795 CCNG1 cyclin G1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:735830 D RGD:9068941 20220224 RGD protein:increased expression:liver (human) PMID:19584283|REF_RGD_ID:151356981 12092795 CCNG1 cyclin G1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:735830 D RGD:9068941 20220303 RGD protein:decreased expression:liver (human) PMID:22835824|REF_RGD_ID:151361198 12092795 CCNG1 cyclin G1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2295 D RGD:9068941 20220218 RGD PMID:24034575|PMID:26345095|REF_RGD_ID:151356932|REF_RGD_ID:151356933 12092795 CCNG1 cyclin G1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:735830 D RGD:9068941 20220224 RGD human cells in mouse model PMID:33543294|REF_RGD_ID:151356970 12092795 CCNG1 cyclin G1 gene DOID:767 muscular atrophy ISO RGD:2295 D RGD:9068941 20220224 RGD associated with microgravity; mRNA:increased expression:gastrocnemius (rat) PMID:14638460|REF_RGD_ID:151361116 12092795 CCNG1 cyclin G1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:735830 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:16845792|REF_RGD_ID:2316022 12092795 CCNG1 cyclin G1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12092795 CCNG1 cyclin G1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:735831 D RGD:9068941 20220303 RGD PMID:27982046|REF_RGD_ID:151361200 12092795 CCNG1 cyclin G1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:735830 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:16845792|REF_RGD_ID:2316022 12092795 CCNG1 cyclin G1 gene DOID:9004009 Reperfusion Injury ISO RGD:2295 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:9698156|REF_RGD_ID:2316027 12092795 CCNG1 cyclin G1 gene DOID:9005172 Lung Neoplasms ISO RGD:735830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16289808 12092795 CCNG1 cyclin G1 gene DOID:9006618 Liver Metastasis treatment ISO RGD:735830 D RGD:9068941 20220224 RGD human cells in mouse model PMID:10910035|REF_RGD_ID:151356987 12092795 CCNG1 cyclin G1 gene DOID:9009121 lung metastasis ISO RGD:735831 D RGD:9068941 20220303 RGD PMID:30565428|REF_RGD_ID:151361205 12092809 ADPRM ADP-ribose/CDP-alcohol diphosphatase, manganese dependent gene DOID:630 genetic disease ISO RGD:1604325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12092817 CT83 cancer/testis antigen 83 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12092817 CT83 cancer/testis antigen 83 gene DOID:12849 autistic disorder ISO RGD:1605263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12092817 CT83 cancer/testis antigen 83 gene DOID:630 genetic disease ISO RGD:1605263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12092823 ATP11C ATPase phospholipid transporting 11C gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12092823 ATP11C ATPase phospholipid transporting 11C gene DOID:0111846 X-linked congenital hemolytic anemia ISO RGD:1351598 D RGD:7240710 20190315 OMIM 12092823 ATP11C ATPase phospholipid transporting 11C gene DOID:0111846 X-linked congenital hemolytic anemia ISO RGD:1351598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked congenital hemolytic anemia PMID:25741868|PMID:26944472 12092823 ATP11C ATPase phospholipid transporting 11C gene DOID:12259 hemophilia B ISO RGD:1351598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary factor IX deficiency disease PMID:2198809|PMID:24375831|PMID:28492532|PMID:3029178|PMID:4045960|PMID:8304338 12092823 ATP11C ATPase phospholipid transporting 11C gene DOID:12849 autistic disorder ISO RGD:1351598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12092823 ATP11C ATPase phospholipid transporting 11C gene DOID:630 genetic disease ISO RGD:1351598 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12092872 RASGEF1C RasGEF domain family member 1C gene DOID:630 genetic disease ISO RGD:1323065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12092902 BAD BCL2 associated agonist of cell death gene DOID:0080855 Parkinsonism ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:23251488|REF_RGD_ID:10053712 12092902 BAD BCL2 associated agonist of cell death gene DOID:0081292 traumatic brain injury treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:24582457|REF_RGD_ID:13782254 12092902 BAD BCL2 associated agonist of cell death gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12092902 BAD BCL2 associated agonist of cell death gene DOID:10286 prostate carcinoma ISO RGD:735541 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:11781193|REF_RGD_ID:2292676 12092902 BAD BCL2 associated agonist of cell death gene DOID:1059 intellectual disability ISO RGD:735541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12092902 BAD BCL2 associated agonist of cell death gene DOID:10652 Alzheimer's disease ISO RGD:735541 D RGD:9068941 20200609 RGD protein:increased expression:temporal cortex, membrane PMID:9507158|REF_RGD_ID:10053642 12092902 BAD BCL2 associated agonist of cell death gene DOID:10652 Alzheimer's disease treatment ISO RGD:733062 D RGD:9068941 20200609 RGD PMID:15339646|REF_RGD_ID:10053639 12092902 BAD BCL2 associated agonist of cell death gene DOID:10763 hypertension treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:20065158|REF_RGD_ID:10053702 12092902 BAD BCL2 associated agonist of cell death gene DOID:10808 gastric ulcer treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:24378970|REF_RGD_ID:10053695 12092902 BAD BCL2 associated agonist of cell death gene DOID:11132 prostatic hypertrophy ISO RGD:735541 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:11781193|REF_RGD_ID:2292676 12092902 BAD BCL2 associated agonist of cell death gene DOID:11832 visual epilepsy ISO RGD:620103 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:hippocampus PMID:15968425|REF_RGD_ID:2292693 12092902 BAD BCL2 associated agonist of cell death gene DOID:1240 leukemia ISO RGD:735541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12970779 12092902 BAD BCL2 associated agonist of cell death gene DOID:1380 endometrial cancer disease progression ISO RGD:735541 D RGD:9068941 20200609 RGD protein:altered expression:endometrium (human) PMID:24645842|REF_RGD_ID:13432164 12092902 BAD BCL2 associated agonist of cell death gene DOID:1459 hypothyroidism ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:22513421|REF_RGD_ID:10053713 12092902 BAD BCL2 associated agonist of cell death gene DOID:1612 breast cancer disease_progression ISO RGD:735541 D RGD:9068941 20200609 RGD PMID:17004114|REF_RGD_ID:2292674 12092902 BAD BCL2 associated agonist of cell death gene DOID:1686 glaucoma ISO RGD:620103 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:retina PMID:16103353|REF_RGD_ID:2292690 12092902 BAD BCL2 associated agonist of cell death gene DOID:1793 pancreatic cancer treatment ISO RGD:735541 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:23523869|REF_RGD_ID:13451129 12092902 BAD BCL2 associated agonist of cell death gene DOID:1875 impotence treatment ISO RGD:620103 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21235725|REF_RGD_ID:10053666 12092902 BAD BCL2 associated agonist of cell death gene DOID:219 colon cancer treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:21214291|REF_RGD_ID:10053668 12092902 BAD BCL2 associated agonist of cell death gene DOID:224 transient cerebral ischemia ISO RGD:735541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12629175 12092902 BAD BCL2 associated agonist of cell death gene DOID:2316 brain ischemia ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:22843461|REF_RGD_ID:10053716 12092902 BAD BCL2 associated agonist of cell death gene DOID:2316 brain ischemia ISO RGD:620103 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:brain PMID:18078455|REF_RGD_ID:2292681 12092902 BAD BCL2 associated agonist of cell death gene DOID:3021 acute kidney failure treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:20037173|REF_RGD_ID:10053672 12092902 BAD BCL2 associated agonist of cell death gene DOID:3070 high grade glioma ISO RGD:735541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12092902 BAD BCL2 associated agonist of cell death gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:733062 D RGD:9068941 20200609 RGD PMID:10582606|REF_RGD_ID:13506907 12092902 BAD BCL2 associated agonist of cell death gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:21891976|PMID:22200499|REF_RGD_ID:10053665|REF_RGD_ID:10053704 12092902 BAD BCL2 associated agonist of cell death gene DOID:3669 intermittent claudication ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:23658678|REF_RGD_ID:9586024 12092902 BAD BCL2 associated agonist of cell death gene DOID:3770 pulmonary fibrosis ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:18198484|REF_RGD_ID:2292680 12092902 BAD BCL2 associated agonist of cell death gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735541 D RGD:9068941 20200609 RGD PMID:24092988|REF_RGD_ID:13434906 12092902 BAD BCL2 associated agonist of cell death gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735541 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:21918885|REF_RGD_ID:13432584 12092902 BAD BCL2 associated agonist of cell death gene DOID:4448 macular degeneration severity ISO RGD:735541 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:22773904|REF_RGD_ID:10053644 12092902 BAD BCL2 associated agonist of cell death gene DOID:4450 renal cell carcinoma ISO RGD:735541 D RGD:9068941 20200609 RGD PMID:15851405|REF_RGD_ID:2292677 12092902 BAD BCL2 associated agonist of cell death gene DOID:630 genetic disease ISO RGD:735541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12092902 BAD BCL2 associated agonist of cell death gene DOID:8398 osteoarthritis ISO RGD:735541 D RGD:9068941 20200609 RGD PMID:19217321|REF_RGD_ID:10053643 12092902 BAD BCL2 associated agonist of cell death gene DOID:9000998 Brain Injuries ISO RGD:620103 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:15941375|REF_RGD_ID:2292694 12092902 BAD BCL2 associated agonist of cell death gene DOID:9001708 Hemorrhagic Shock ISO RGD:620103 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:lung PMID:15345971|REF_RGD_ID:2292699 12092902 BAD BCL2 associated agonist of cell death gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:23056591|REF_RGD_ID:10053711 12092902 BAD BCL2 associated agonist of cell death gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:23643992|REF_RGD_ID:10053660 12092902 BAD BCL2 associated agonist of cell death gene DOID:9002159 Liver Reperfusion Injury ISO RGD:620103 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:22647552|REF_RGD_ID:10053673 12092902 BAD BCL2 associated agonist of cell death gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:620103 D RGD:9068941 20200609 RGD associated with Non-alcoholic Fatty Liver Disease PMID:22847887|REF_RGD_ID:10053710 12092902 BAD BCL2 associated agonist of cell death gene DOID:9002304 Prostatic Neoplasms ISO RGD:733062 D RGD:9068941 20200609 RGD PMID:17607361|REF_RGD_ID:2292673 12092902 BAD BCL2 associated agonist of cell death gene DOID:9002304 Prostatic Neoplasms ISO RGD:735541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17542986|PMID:19593445 12092902 BAD BCL2 associated agonist of cell death gene DOID:9003936 Cardiomegaly treatment ISO RGD:620103 D RGD:9068941 20200609 RGD associated with Hypertension PMID:21921241|REF_RGD_ID:10053646 12092902 BAD BCL2 associated agonist of cell death gene DOID:9004009 Reperfusion Injury ISO RGD:620103 D RGD:9068941 20200609 RGD protein:altered localization:brain, mitochondria PMID:18347331|REF_RGD_ID:2292679 12092902 BAD BCL2 associated agonist of cell death gene DOID:9004484 Sepsis ISO RGD:620103 D RGD:9068941 20200609 RGD protein:increased localization:mitochondrion PMID:24011917|REF_RGD_ID:10053647 12092902 BAD BCL2 associated agonist of cell death gene DOID:9004484 Sepsis treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:22683079|REF_RGD_ID:10053707 12092902 BAD BCL2 associated agonist of cell death gene DOID:9004953 Diabetic Cystopathy treatment ISO RGD:620103 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23129268|REF_RGD_ID:10053664 12092902 BAD BCL2 associated agonist of cell death gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:20732338|REF_RGD_ID:10053708 12092902 BAD BCL2 associated agonist of cell death gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:23404339|REF_RGD_ID:10053670 12092902 BAD BCL2 associated agonist of cell death gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620103 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:cornea PMID:21330660|REF_RGD_ID:5131482 12092902 BAD BCL2 associated agonist of cell death gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620103 D RGD:9068941 20200609 RGD protein:increased expression, decreased phosphorylation, altered activity:testis PMID:17870134|REF_RGD_ID:2292685 12092902 BAD BCL2 associated agonist of cell death gene DOID:9006190 Chronic Pancreatitis severity ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:22549003|REF_RGD_ID:10053701 12092902 BAD BCL2 associated agonist of cell death gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:620103 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21296063|REF_RGD_ID:10053697 12092902 BAD BCL2 associated agonist of cell death gene DOID:9007334 Small-For-Size Syndrome treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:22151301|REF_RGD_ID:10053671 12092902 BAD BCL2 associated agonist of cell death gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:25447754|REF_RGD_ID:10053709 12092902 BAD BCL2 associated agonist of cell death gene DOID:9007692 Insulin Resistance ISO RGD:620103 D RGD:9068941 20200609 RGD protein:decreased phosphorylation, increased dimerization, increased glycosylation:heart PMID:21385329|REF_RGD_ID:10053645 12092902 BAD BCL2 associated agonist of cell death gene DOID:9007730 Burns ISO RGD:620103 D RGD:9068941 20200609 RGD protein:increased expression:neutrophil PMID:15625305|REF_RGD_ID:2292697 12092902 BAD BCL2 associated agonist of cell death gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620103 D RGD:9068941 20200609 RGD protein:increased expression, decreased serine phosphorylation:heart PMID:15339931|REF_RGD_ID:2292700 12092902 BAD BCL2 associated agonist of cell death gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:23364609|REF_RGD_ID:10053674 12092902 BAD BCL2 associated agonist of cell death gene DOID:9352 type 2 diabetes mellitus ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:23032698|REF_RGD_ID:10053698 12092902 BAD BCL2 associated agonist of cell death gene DOID:9743 diabetic neuropathy treatment ISO RGD:620103 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24288572|REF_RGD_ID:10053667 12092902 BAD BCL2 associated agonist of cell death gene DOID:9970 obesity ISO RGD:620103 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:18070754|REF_RGD_ID:2292682 12092921 FCER2 Fc epsilon receptor II gene DOID:0080490 mucolipidosis type IV ISO RGD:1354370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12092921 FCER2 Fc epsilon receptor II gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1354370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 12092921 FCER2 Fc epsilon receptor II gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1354370 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 12092921 FCER2 Fc epsilon receptor II gene DOID:14330 Parkinson's disease ISO RGD:1354370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 12092921 FCER2 Fc epsilon receptor II gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1354370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11500085 12092921 FCER2 Fc epsilon receptor II gene DOID:630 genetic disease ISO RGD:1354370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12092921 FCER2 Fc epsilon receptor II gene DOID:9002850 Immediate Hypersensitivity ISO RGD:1354370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22967010 12092921 FCER2 Fc epsilon receptor II gene DOID:9588 encephalitis ISO RGD:1354370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11500085 12092941 MANBA mannosidase beta gene DOID:1059 intellectual disability ISO RGD:1314025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:18980795|PMID:19728872|PMID:25741868|PMID:28492532|PMID:30552791|PMID:9536098 12092941 MANBA mannosidase beta gene DOID:12177 common variable immunodeficiency ISO RGD:1314025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:25741868 12092941 MANBA mannosidase beta gene DOID:3633 beta-mannosidosis ISO RGD:1314025 D RGD:7240710 20180822 OMIM 12092941 MANBA mannosidase beta gene DOID:3633 beta-mannosidosis ISO RGD:1314025 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:12890191|PMID:1499588|PMID:16199547|PMID:1623631|PMID:16401745|PMID:16904924|PMID:17420068|PMID:17576681|PMID:18565776|PMID:18980795|PMID:19728872|PMID:19763152|PMID:20307669|PMID:2079835|PMID:22369051|PMID:22406018|PMID:24033266|PMID:25640679|PMID:25741867|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30311386|PMID:30455226|PMID:30552791|PMID:30872814|PMID:30951195|PMID:31115173|PMID:34906502|PMID:3762648|PMID:9384606|PMID:9536098 12092941 MANBA mannosidase beta gene DOID:630 genetic disease ISO RGD:1314025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12092941 MANBA mannosidase beta gene DOID:9004538 Hearing Loss ISO RGD:1314025 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:18565776|PMID:2079835|PMID:28492532|PMID:30311386|PMID:30872814|PMID:9384606 12092962 SENP7 SUMO specific peptidase 7 gene DOID:630 genetic disease ISO RGD:1313579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12092995 MYNN myoneurin gene DOID:0060645 chronic recurrent multifocal osteomyelitis ISO RGD:1317346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic osteomyelitis 12092995 MYNN myoneurin gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1317346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 12092995 MYNN myoneurin gene DOID:1062 Fanconi syndrome ISO RGD:1317346 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 12092995 MYNN myoneurin gene DOID:630 genetic disease ISO RGD:1317346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093010 LOC489332 putative olfactory receptor 10D3 gene DOID:5419 schizophrenia ISO RGD:1354061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12093017 BPIFA3 BPI fold containing family A member 3 gene DOID:630 genetic disease ISO RGD:1347929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093034 CDKN2D cyclin dependent kinase inhibitor 2D gene DOID:630 genetic disease ISO RGD:1346352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093034 CDKN2D cyclin dependent kinase inhibitor 2D gene DOID:9000217 Stomach Neoplasms ISO RGD:1346352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12093045 DCDC2B doublecortin domain containing 2B gene DOID:630 genetic disease ISO RGD:1604739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093066 MCMBP minichromosome maintenance complex binding protein gene DOID:630 genetic disease ISO RGD:1315515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093093 UNC13B unc-13 homolog B gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:734027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12093093 UNC13B unc-13 homolog B gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:734027 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12093093 UNC13B unc-13 homolog B gene DOID:0080600 COVID-19 ISO RGD:734027 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12093093 UNC13B unc-13 homolog B gene DOID:0080942 anauxetic dysplasia ISO RGD:734027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12093093 UNC13B unc-13 homolog B gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:734027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12093093 UNC13B unc-13 homolog B gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:734027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12093093 UNC13B unc-13 homolog B gene DOID:630 genetic disease ISO RGD:734027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093093 UNC13B unc-13 homolog B gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:734027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12093093 UNC13B unc-13 homolog B gene DOID:9562 primary ciliary dyskinesia ISO RGD:734027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12093093 UNC13B unc-13 homolog B gene DOID:9870 galactosemia ISO RGD:734027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12093181 LOC100685292 zinc finger and SCAN domain-containing protein 23 gene DOID:11372 megacolon ISO RGD:1353335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12093181 LOC100685292 zinc finger and SCAN domain-containing protein 23 gene DOID:630 genetic disease ISO RGD:1353335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093199 ANK1 ankyrin 1 gene DOID:0080006 bone development disease ISO RGD:1320055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18728347 12093199 ANK1 ankyrin 1 gene DOID:0090039 torsion dystonia 6 ISO RGD:1320055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 12093199 ANK1 ankyrin 1 gene DOID:0110916 hereditary spherocytosis type 1 ISO RGD:1320055 D RGD:7240710 20180130 OMIM 12093199 ANK1 ankyrin 1 gene DOID:0110916 hereditary spherocytosis type 1 ISO RGD:1320055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis type 1 | ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive PMID:11102985|PMID:11167760|PMID:11372755|PMID:12899723|PMID:1486040|PMID:15071790|PMID:16037067|PMID:16199547|PMID:17327413|PMID:22573887|PMID:24033266|PMID:25741868|PMID:26830532|PMID:27292444|PMID:27427187|PMID:28492532|PMID:29597199|PMID:31016877|PMID:31122244|PMID:31669644|PMID:31980736|PMID:32436265|PMID:32518793|PMID:32641076|PMID:33014018|PMID:33074480|PMID:33116287|PMID:7883994|PMID:8640229|PMID:9590147 12093199 ANK1 ankyrin 1 gene DOID:0111959 immunodeficiency 15B ISO RGD:1320055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 12093199 ANK1 ankyrin 1 gene DOID:10907 microcephaly ISO RGD:1320055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12093199 ANK1 ankyrin 1 gene DOID:12365 malaria ISO RGD:1320056 D RGD:9068941 20220825 MouseDO OMIM:609148 | OMIM:611162 12093199 ANK1 ankyrin 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1320055 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant PMID:25741868|PMID:28492532 12093199 ANK1 ankyrin 1 gene DOID:12971 hereditary spherocytosis severity ISO RGD:1320056 D RGD:9068941 20200609 RGD DNA:deletion mutation:exon: PMID:14671619|REF_RGD_ID:11251681 12093199 ANK1 ankyrin 1 gene DOID:224 transient cerebral ischemia ISO RGD:1309620 D RGD:9068941 20200609 RGD PMID:9202331|REF_RGD_ID:1599109 12093199 ANK1 ankyrin 1 gene DOID:2355 anemia ISO RGD:1320055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868 12093199 ANK1 ankyrin 1 gene DOID:2355 anemia severity ISO RGD:1320055 D RGD:9068941 20200609 RGD associated with Spherocytosis, Hereditary;DNA:nonsense, frameshift,splice mutations:exons,introns: PMID:11372755|REF_RGD_ID:11251706 12093199 ANK1 ankyrin 1 gene DOID:630 genetic disease ISO RGD:1320055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12093199 ANK1 ankyrin 1 gene DOID:9000582 Reticulocytosis severity ISO RGD:1320055 D RGD:9068941 20200609 RGD associated with Spherocytosis, Hereditary;DNA:nonsense, frameshift,splice mutations:exons,introns: PMID:11372755|REF_RGD_ID:11251706 12093199 ANK1 ankyrin 1 gene DOID:9005099 Salmonella Infections, Animal ISO RGD:1320056 D RGD:9068941 20200609 RGD PMID:23390527|REF_RGD_ID:11041609 12093199 ANK1 ankyrin 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1309620 D RGD:9068941 20200609 RGD PMID:9378703|REF_RGD_ID:1599110 12093199 ANK1 ankyrin 1 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1320055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 12093282 ARPIN actin related protein 2/3 complex inhibitor gene DOID:0080600 COVID-19 ISO RGD:1604167 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12093282 ARPIN actin related protein 2/3 complex inhibitor gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1604167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12093282 ARPIN actin related protein 2/3 complex inhibitor gene DOID:1826 epilepsy ISO RGD:1604167 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12093282 ARPIN actin related protein 2/3 complex inhibitor gene DOID:2717 Bloom syndrome ISO RGD:1604167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12093282 ARPIN actin related protein 2/3 complex inhibitor gene DOID:630 genetic disease ISO RGD:1604167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093282 ARPIN actin related protein 2/3 complex inhibitor gene DOID:9256 colorectal cancer ISO RGD:1604167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12093298 OR4K5 olfactory receptor family 4 subfamily K member 5 gene DOID:630 genetic disease ISO RGD:1349816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093350 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:0060236 xanthinuria ISO RGD:737503 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: XDH deficiency 12093350 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:737503 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 PMID:28492532 12093350 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:737503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:28492532 12093350 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:10283 prostate cancer ISO RGD:737503 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:12949937|REF_RGD_ID:2302560 12093350 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:10283 prostate cancer susceptibility ISO RGD:737503 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A49T (human) PMID:10501358|REF_RGD_ID:4891929 12093350 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:10892 hypospadias susceptibility ISO RGD:737503 D RGD:9068941 20200609 RGD protein:missense mutations:cds:p.R227Q, p.F186L (human) PMID:10514539|REF_RGD_ID:1600059 12093350 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:11132 prostatic hypertrophy ISO RGD:737503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20823678 12093350 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:12700 hyperprolactinemia ISO RGD:621480 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate (rat) PMID:18379994|REF_RGD_ID:4891877 12093350 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:1924 hypogonadism ISO RGD:737503 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypergonadotropic hypogonadism PMID:25741868|PMID:28492532 12093350 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:289 endometriosis ISO RGD:737503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21232532 12093350 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:3459 breast carcinoma ISO RGD:737503 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:15212687|REF_RGD_ID:2302558 12093350 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:630 genetic disease ISO RGD:737503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093350 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:9001561 Pseudovaginal Perineoscrotal Hypospadias ISO RGD:737503 D RGD:7240710 20180130 OMIM 12093350 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:9001561 Pseudovaginal Perineoscrotal Hypospadias ISO RGD:737503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | ClinVar Annotator: match by term: Familial incomplete male pseudohermaphroditism, type 2 PMID:10501358|PMID:10718838|PMID:10898110|PMID:10999800|PMID:11869378|PMID:12576851|PMID:12699446|PMID:12843198|PMID:1406794|PMID:14560315|PMID:14594182|PMID:15064320|PMID:1522235|PMID:15266301|PMID:15528927|PMID:15770495|PMID:18097518|PMID:18314109|PMID:18384427|PMID:18391525|PMID:18469342|PMID:18717241|PMID:19342739|PMID:1944596|PMID:19492581|PMID:20019388|PMID:20190539|PMID:20493473|PMID:20583543|PMID:20736251|PMID:21147889|PMID:21402750|PMID:2154055|PMID:21540559|PMID:21631525|PMID:22272144|PMID:22453073|PMID:22876553|PMID:23329752|PMID:24665940|PMID:24737579|PMID:25248670|PMID:25605705|PMID:25741868|PMID:25899528|PMID:26446026|PMID:2665940|PMID:26980298|PMID:27070133|PMID:27854360|PMID:27899157|PMID:28110336|PMID:28492532|PMID:28544750|PMID:28663096|PMID:30132287|PMID:31186340|PMID:32346305|PMID:32371413|PMID:32713132|PMID:33516834|PMID:33742552|PMID:431680|PMID:7554313|PMID:7608269|PMID:8110760|PMID:8262007|PMID:835597|PMID:8626825|PMID:8706317|PMID:8723114|PMID:8768837|PMID:9066886|PMID:9135696|PMID:9208814|PMID:9467575|PMID:9745434|PMID:9843052 12093350 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16998812|PMID:17136762|PMID:17823934|PMID:18306354|PMID:18500220 12093350 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:9003503 Penis Agenesis ISO RGD:737503 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Micropenis PMID:10898110|PMID:12843198|PMID:14594182|PMID:15064320|PMID:19342739|PMID:20736251|PMID:22453073|PMID:25605705|PMID:25741868|PMID:25899528|PMID:28492532|PMID:32713132 12093350 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:9004466 Xanthinuria, Type II ISO RGD:737503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Xanthinuria type II PMID:18384427|PMID:28492532 12093350 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:737503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23200943 12093350 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:737503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis PMID:28492532 12093350 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:9351 diabetes mellitus ISO RGD:621480 D RGD:9068941 20200609 RGD PMID:12749121|REF_RGD_ID:1600067 12093350 SRD5A2 steroid 5 alpha-reductase 2 gene DOID:987 alopecia ISO RGD:737503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17136762 12093358 PDIA6 protein disulfide isomerase family A member 6 gene DOID:630 genetic disease ISO RGD:1354298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093375 NEUROD6 neuronal differentiation 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12093375 NEUROD6 neuronal differentiation 6 gene DOID:630 genetic disease ISO RGD:1343073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093385 SLC6A13 solute carrier family 6 member 13 gene DOID:630 genetic disease ISO RGD:733725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12093385 SLC6A13 solute carrier family 6 member 13 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:733725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12093421 F9 coagulation factor IX gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12093421 F9 coagulation factor IX gene DOID:0060903 thrombosis ISO RGD:735620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1279834 12093421 F9 coagulation factor IX gene DOID:0080839 X-linked warfarin sensitivity ISO RGD:735620 D RGD:7240710 20201118 OMIM 12093421 F9 coagulation factor IX gene DOID:0080839 X-linked warfarin sensitivity ISO RGD:735620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COUMARIN SENSITIVITY, X-LINKED | ClinVar Annotator: match by term: Warfarin sensitivity, X-linked PMID:10094553|PMID:10698280|PMID:19699296|PMID:2066105|PMID:22639855|PMID:2370049|PMID:24375831|PMID:2472424|PMID:25741868|PMID:2762170|PMID:2773937|PMID:28492532|PMID:2929599|PMID:29450643|PMID:29923114|PMID:30576981|PMID:31064749|PMID:3262389|PMID:7937052|PMID:8320491|PMID:8833911|PMID:9233593|PMID:9525872 12093421 F9 coagulation factor IX gene DOID:0111899 X-linked thrombophilia due to factor IX defect ISO RGD:735620 D RGD:7240710 20180130 OMIM 12093421 F9 coagulation factor IX gene DOID:0111899 X-linked thrombophilia due to factor IX defect ISO RGD:735620 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Thrombophilia, X-linked, due to factor IX defect PMID:10094553|PMID:10373456|PMID:10595634|PMID:10698280|PMID:10739381|PMID:11122099|PMID:11328285|PMID:12588353|PMID:1346975|PMID:14675097|PMID:15178576|PMID:15569175|PMID:15921378|PMID:1615486|PMID:16643212|PMID:1680287|PMID:17014892|PMID:1864609|PMID:1873221|PMID:19286883|PMID:1968152|PMID:19699296|PMID:19846852|PMID:2066105|PMID:2087690|PMID:2198809|PMID:22103590|PMID:2220823|PMID:22544209|PMID:22639855|PMID:23093250|PMID:23617593|PMID:2370049|PMID:24375831|PMID:2450455|PMID:2472424|PMID:25326637|PMID:2564457|PMID:25741868|PMID:25851415|PMID:2752109|PMID:27529981|PMID:2762170|PMID:2773937|PMID:27865967|PMID:28193338|PMID:28492532|PMID:2929599|PMID:29517974|PMID:29656491|PMID:29993188|PMID:31064749|PMID:31272859|PMID:3181127|PMID:32581362|PMID:3262389|PMID:34272389|PMID:34355501|PMID:34590426|PMID:35770352|PMID:3857619|PMID:5298508|PMID:6603618|PMID:7482402|PMID:7873393|PMID:7937052|PMID:8055323|PMID:8091381|PMID:8257988|PMID:8314564|PMID:8320491|PMID:8470048|PMID:8680410|PMID:8772212|PMID:9222764|PMID:9450791|PMID:9525872 12093421 F9 coagulation factor IX gene DOID:12134 factor VIII deficiency ISO RGD:735620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency, congenital PMID:10094553|PMID:10373456|PMID:10595634|PMID:10698280|PMID:10739381|PMID:11122099|PMID:11328285|PMID:12588353|PMID:1346975|PMID:14675097|PMID:15178576|PMID:15569175|PMID:15921378|PMID:1615486|PMID:16643212|PMID:1680287|PMID:17014892|PMID:1864609|PMID:1873221|PMID:1968152|PMID:19699296|PMID:2066105|PMID:2087690|PMID:2198809|PMID:22103590|PMID:2220823|PMID:22544209|PMID:22639855|PMID:23093250|PMID:24375831|PMID:2472424|PMID:25326637|PMID:25741868|PMID:2752109|PMID:27529981|PMID:2773937|PMID:27865967|PMID:28193338|PMID:28492532|PMID:2929599|PMID:29656491|PMID:29993188|PMID:31064749|PMID:3181127|PMID:32581362|PMID:34272389|PMID:34355501|PMID:34590426|PMID:5298508|PMID:6603618|PMID:7482402|PMID:7873393|PMID:7937052|PMID:8055323|PMID:8091381|PMID:8257988|PMID:8314564|PMID:8320491|PMID:8470048|PMID:8680410|PMID:8772212|PMID:9222764|PMID:9450791 12093421 F9 coagulation factor IX gene DOID:12259 hemophilia B ISO RGD:735620 D RGD:7240710 20180130 OMIM 12093421 F9 coagulation factor IX gene DOID:12259 hemophilia B ISO RGD:735620 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Factor IX deficiency | ClinVar Annotator: match by term: Hemophilia B Brandenburg | ClinVar Annotator: match by term: Hemophilia B leyden | ClinVar Annotator: match by term: Hemophilia B, Factor IX Deficiency | ClinVar Annotator: match by term: Hemophilia b(m) | ClinVar Annotator: match by term: Hereditary factor IX deficiency disease PMID:10090477|PMID:10094553|PMID:10373456|PMID:10595634|PMID:10647899|PMID:10698280|PMID:10739381|PMID:10874302|PMID:10942410|PMID:10980527|PMID:11013449|PMID:11122099|PMID:11328285|PMID:12588353|PMID:12709378|PMID:12780784|PMID:12997790|PMID:1346077|PMID:1346975|PMID:1357229|PMID:14675097|PMID:15086324|PMID:15178576|PMID:15569175|PMID:1579901|PMID:15921378|PMID:1598234|PMID:1615485|PMID:1615486|PMID:16199547|PMID:16270648|PMID:1631121|PMID:1631558|PMID:16643212|PMID:1680287|PMID:1680373|PMID:17014892|PMID:1733855|PMID:17397055|PMID:17576681|PMID:1796396|PMID:18479429|PMID:18540896|PMID:18624698|PMID:1864609|PMID:1873221|PMID:1897528|PMID:1902289|PMID:19236374|PMID:19286883|PMID:19522246|PMID:1958666|PMID:1968152|PMID:19686262|PMID:1969838|PMID:19699296|PMID:1972560|PMID:19763152|PMID:19815722|PMID:19846852|PMID:1986380|PMID:1998585|PMID:2004020|PMID:20059559|PMID:20301668|PMID:20305539|PMID:20307669|PMID:2066105|PMID:20695909|PMID:2087690|PMID:2093364|PMID:2111833|PMID:2198809|PMID:22103590|PMID:2220823|PMID:22406018|PMID:22544209|PMID:22639855|PMID:2270538|PMID:22707612|PMID:23093250|PMID:2320433|PMID:2339358|PMID:2342576|PMID:23472758|PMID:2352926|PMID:2355000|PMID:23617593|PMID:2370049|PMID:2372509|PMID:2388855|PMID:23913812|PMID:23998594|PMID:24375831|PMID:2438804|PMID:2450455|PMID:24533955|PMID:2472424|PMID:24816826|PMID:2494175|PMID:25251685|PMID:25326637|PMID:25470321|PMID:2563663|PMID:2564457|PMID:25741868|PMID:25851415|PMID:2592373|PMID:25929987|PMID:26612714|PMID:27109384|PMID:2714791|PMID:27213901|PMID:27227676|PMID:2738071|PMID:2741941|PMID:2743975|PMID:27501440|PMID:2752109|PMID:27529981|PMID:2753873|PMID:2757966|PMID:2762170|PMID:2773937|PMID:2775660|PMID:27824213|PMID:27865967|PMID:28168417|PMID:28193338|PMID:2821070|PMID:2831715|PMID:2841226|PMID:2846283|PMID:2848757|PMID:28492532|PMID:2873459|PMID:28752769|PMID:2875754|PMID:28834196|PMID:2886685|PMID:2917196|PMID:2929599|PMID:29296726|PMID:29450643|PMID:29517974|PMID:29656491|PMID:29923114|PMID:2992643|PMID:29993188|PMID:3009023|PMID:3029178|PMID:30576981|PMID:31026269|PMID:31064749|PMID:31272859|PMID:3181127|PMID:31840356|PMID:32155688|PMID:3243764|PMID:32581362|PMID:32596782|PMID:3262389|PMID:32875744|PMID:32935414|PMID:3392024|PMID:3401602|PMID:3411192|PMID:3416069|PMID:34272389|PMID:34355501|PMID:34590426|PMID:3461460|PMID:34626083|PMID:35770352|PMID:3790720|PMID:3857619|PMID:3965513|PMID:4033760|PMID:4045960|PMID:4163943|PMID:5298508|PMID:5450691|PMID:6603618|PMID:6843667|PMID:7062952|PMID:7101232|PMID:734633|PMID:7482402|PMID:7677806|PMID:7734378|PMID:7873393|PMID:7937052|PMID:7989034|PMID:8055323|PMID:8091381|PMID:8178822|PMID:8199596|PMID:8217825|PMID:8251390|PMID:8257988|PMID:8304338|PMID:8314564|PMID:8318985|PMID:8320491|PMID:8352232|PMID:8365725|PMID:8392713|PMID:8412791|PMID:8434583|PMID:8470048|PMID:8478007|PMID:8499919|PMID:8499951|PMID:8594556|PMID:8680410|PMID:8772212|PMID:8825645|PMID:8833911|PMID:884315|PMID:8990015|PMID:9222764|PMID:9450791|PMID:9525872|PMID:9536098|PMID:9590153|PMID:9600455 12093421 F9 coagulation factor IX gene DOID:12259 hemophilia B treatment ISO RGD:735620 D RGD:9068941 20200609 RGD PMID:20351275|PMID:21122306|REF_RGD_ID:10450761|REF_RGD_ID:10450764 12093421 F9 coagulation factor IX gene DOID:1247 blood coagulation disease ISO RGD:735620 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of coagulation PMID:2066105|PMID:23093250|PMID:25326637|PMID:25741868|PMID:27529981|PMID:27865967|PMID:28492532|PMID:29656491|PMID:31064749|PMID:34355501 12093421 F9 coagulation factor IX gene DOID:12849 autistic disorder ISO RGD:735620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12093421 F9 coagulation factor IX gene DOID:1790 malignant mesothelioma ISO RGD:735620 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 12093421 F9 coagulation factor IX gene DOID:630 genetic disease ISO RGD:735620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19846852|PMID:7937052 12093421 F9 coagulation factor IX gene DOID:9004484 Sepsis treatment ISO RGD:2589 D RGD:9068941 20200609 RGD PMID:12000738|REF_RGD_ID:1598921 12093421 F9 coagulation factor IX gene DOID:9352 type 2 diabetes mellitus ISO RGD:735620 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:7974333|REF_RGD_ID:2312416 12093433 FBLN1 fibulin 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1318572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12093433 FBLN1 fibulin 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1318572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12093433 FBLN1 fibulin 1 gene DOID:1059 intellectual disability ISO RGD:1318572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12093433 FBLN1 fibulin 1 gene DOID:289 endometriosis ISO RGD:1318572 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12093433 FBLN1 fibulin 1 gene DOID:630 genetic disease ISO RGD:1318572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093433 FBLN1 fibulin 1 gene DOID:9001994 Synpolydactyly 2 ISO RGD:1318572 D RGD:7240710 20180130 OMIM 12093433 FBLN1 fibulin 1 gene DOID:9001994 Synpolydactyly 2 ISO RGD:1318572 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES PMID:25741868|PMID:28492532 12093433 FBLN1 fibulin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318572 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17929269 12093433 FBLN1 fibulin 1 gene DOID:9004662 Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects ISO RGD:1318572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects PMID:24084572 12093456 KIFC2 kinesin family member C2 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1352702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12093456 KIFC2 kinesin family member C2 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1352702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12093456 KIFC2 kinesin family member C2 gene DOID:4621 holoprosencephaly ISO RGD:1352702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12093456 KIFC2 kinesin family member C2 gene DOID:630 genetic disease ISO RGD:1352702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093478 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:735850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12093478 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:0080271 nephrotic syndrome type 15 ISO RGD:735850 D RGD:7240710 20190315 OMIM 12093478 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:0080271 nephrotic syndrome type 15 ISO RGD:735850 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 15 PMID:18414213|PMID:25741868|PMID:26467025|PMID:27932480|PMID:28492532|PMID:30986657 12093478 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:10283 prostate cancer ISO RGD:735850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12093478 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:2030 anxiety disorder ISO RGD:735850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25653350 12093478 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12093478 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:5419 schizophrenia ISO RGD:735850 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12093478 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:630 genetic disease ISO RGD:735850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 12093478 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:735850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25653350 12093478 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:735850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12093478 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:9008023 Memory Disorders ISO RGD:735850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25653350 12093536 MON1A MON1 homolog A, secretory trafficking associated gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1601843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12093536 MON1A MON1 homolog A, secretory trafficking associated gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1601843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12093536 MON1A MON1 homolog A, secretory trafficking associated gene DOID:2351 iron metabolism disease ISO RGD:1601843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632513 12093536 MON1A MON1 homolog A, secretory trafficking associated gene DOID:630 genetic disease ISO RGD:1601843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093536 MON1A MON1 homolog A, secretory trafficking associated gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1601843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12093536 MON1A MON1 homolog A, secretory trafficking associated gene DOID:9562 primary ciliary dyskinesia ISO RGD:1601843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12093546 ARPP21 cAMP regulated phosphoprotein 21 gene DOID:10283 prostate cancer ISO RGD:1606317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12093546 ARPP21 cAMP regulated phosphoprotein 21 gene DOID:630 genetic disease ISO RGD:1606317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093625 ITGB1 integrin subunit beta 1 gene DOID:0050700 cardiomyopathy ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18340010 12093625 ITGB1 integrin subunit beta 1 gene DOID:0080074 neural tube defect ISO RGD:736631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:25741868 12093625 ITGB1 integrin subunit beta 1 gene DOID:0081292 traumatic brain injury ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25668593 12093625 ITGB1 integrin subunit beta 1 gene DOID:10485 esophageal atresia ISO RGD:736631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12093625 ITGB1 integrin subunit beta 1 gene DOID:10487 Hirschsprung's disease ISO RGD:733764 D RGD:9068941 20220825 MouseDO OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 12093625 ITGB1 integrin subunit beta 1 gene DOID:10908 hydrocephalus ISO RGD:2927 D RGD:9068941 20200609 RGD PMID:19726708|REF_RGD_ID:2325325 12093625 ITGB1 integrin subunit beta 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11884376 12093625 ITGB1 integrin subunit beta 1 gene DOID:1749 squamous cell carcinoma ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 12093625 ITGB1 integrin subunit beta 1 gene DOID:182 calcinosis ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18340010 12093625 ITGB1 integrin subunit beta 1 gene DOID:289 endometriosis ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12093625 ITGB1 integrin subunit beta 1 gene DOID:2921 glomerulonephritis ISO RGD:2927 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus (rat) PMID:19662603|REF_RGD_ID:2325666 12093625 ITGB1 integrin subunit beta 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21478906 12093625 ITGB1 integrin subunit beta 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736631 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:28537888|REF_RGD_ID:13792830 12093625 ITGB1 integrin subunit beta 1 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:736631 D RGD:9068941 20200609 RGD PMID:21063403|REF_RGD_ID:13792831 12093625 ITGB1 integrin subunit beta 1 gene DOID:5409 lung small cell carcinoma treatment ISO RGD:736631 D RGD:9068941 20200609 RGD PMID:12168902|REF_RGD_ID:13792832 12093625 ITGB1 integrin subunit beta 1 gene DOID:5844 myocardial infarction treatment ISO RGD:2927 D RGD:9068941 20200609 RGD PMID:28367125|REF_RGD_ID:13602094 12093625 ITGB1 integrin subunit beta 1 gene DOID:6000 congestive heart failure ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11884376 12093625 ITGB1 integrin subunit beta 1 gene DOID:630 genetic disease ISO RGD:736631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093625 ITGB1 integrin subunit beta 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736631 D RGD:9068941 20200609 RGD associated with non-small cell lung carcinoma, PMID:28537888|REF_RGD_ID:13792830 12093625 ITGB1 integrin subunit beta 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23562787 12093625 ITGB1 integrin subunit beta 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12093625 ITGB1 integrin subunit beta 1 gene DOID:9002211 Hyperalgesia ISO RGD:2927 D RGD:9068941 20200609 RGD PMID:14984413|REF_RGD_ID:2302389 12093625 ITGB1 integrin subunit beta 1 gene DOID:9002211 Hyperalgesia ISO RGD:2927 D RGD:9068941 20200609 RGD knock-down using a specific monoclonal antibody or RNAi PMID:15836982|REF_RGD_ID:2302139 12093625 ITGB1 integrin subunit beta 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224397 12093625 ITGB1 integrin subunit beta 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2927 D RGD:9068941 20200609 RGD protein:decreased expression:epidermal stem cell (rat) PMID:20187441|REF_RGD_ID:2325322 12093625 ITGB1 integrin subunit beta 1 gene DOID:9007402 Gliosis ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12851778 12093651 KCNH7 potassium voltage-gated channel subfamily H member 7 gene DOID:12849 autistic disorder ISO RGD:734396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 12093651 KCNH7 potassium voltage-gated channel subfamily H member 7 gene DOID:630 genetic disease ISO RGD:734396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093678 PLEKHA6 pleckstrin homology domain containing A6 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1353676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12093678 PLEKHA6 pleckstrin homology domain containing A6 gene DOID:12849 autistic disorder ISO RGD:1353676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12093678 PLEKHA6 pleckstrin homology domain containing A6 gene DOID:1540 parathyroid carcinoma ISO RGD:1353676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12093678 PLEKHA6 pleckstrin homology domain containing A6 gene DOID:630 genetic disease ISO RGD:1353676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093678 PLEKHA6 pleckstrin homology domain containing A6 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1353676 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12093678 PLEKHA6 pleckstrin homology domain containing A6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12093705 SNTB2 syntrophin beta 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1318541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12093705 SNTB2 syntrophin beta 2 gene DOID:630 genetic disease ISO RGD:1318541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093716 PGRMC1 progesterone receptor membrane component 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12093716 PGRMC1 progesterone receptor membrane component 1 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:733484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 12093716 PGRMC1 progesterone receptor membrane component 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736221 D RGD:9068941 20220825 MouseDO OMIM:613282 | OMIM:613387 12093716 PGRMC1 progesterone receptor membrane component 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:733484 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 12093716 PGRMC1 progesterone receptor membrane component 1 gene DOID:10652 Alzheimer's disease ISO RGD:733484 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25390692 12093716 PGRMC1 progesterone receptor membrane component 1 gene DOID:12849 autistic disorder ISO RGD:733484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12093716 PGRMC1 progesterone receptor membrane component 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome 12093716 PGRMC1 progesterone receptor membrane component 1 gene DOID:630 genetic disease ISO RGD:733484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093716 PGRMC1 progesterone receptor membrane component 1 gene DOID:83 cataract ISO RGD:733484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:33867527 12093716 PGRMC1 progesterone receptor membrane component 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733484 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12093723 N4BP3 NEDD4 binding protein 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:4145242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12093723 N4BP3 NEDD4 binding protein 3 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:4145242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12093723 N4BP3 NEDD4 binding protein 3 gene DOID:0112103 Sotos syndrome 1 ISO RGD:4145242 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12093723 N4BP3 NEDD4 binding protein 3 gene DOID:2729 dyskeratosis congenita ISO RGD:4145242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12093723 N4BP3 NEDD4 binding protein 3 gene DOID:630 genetic disease ISO RGD:4145242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093731 FLT4 fms related receptor tyrosine kinase 4 gene DOID:0050580 hereditary lymphedema ISO RGD:733489 D RGD:9068941 20220825 MouseDO OMIM:153100 | OMIM:153200 | OMIM:247440 | OMIM:611944 | OMIM:613480 | OMIM:615907 12093731 FLT4 fms related receptor tyrosine kinase 4 gene DOID:0070210 hereditary lymphedema IA ISO RGD:733488 D RGD:7240710 20180912 OMIM 12093731 FLT4 fms related receptor tyrosine kinase 4 gene DOID:0070210 hereditary lymphedema IA ISO RGD:733488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary lymphedema type I PMID:10835628|PMID:10856194|PMID:16924388|PMID:16965327|PMID:19289394|PMID:24033266|PMID:25741868|PMID:9817924 12093731 FLT4 fms related receptor tyrosine kinase 4 gene DOID:0070212 hereditary lymphedema I ISO RGD:733488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary lymphedema type I PMID:10835628|PMID:10856194|PMID:16924388|PMID:16965327|PMID:19289394|PMID:24033266|PMID:25741868|PMID:9817924 12093731 FLT4 fms related receptor tyrosine kinase 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:733488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12093731 FLT4 fms related receptor tyrosine kinase 4 gene DOID:1475 lymphangioma ISO RGD:733488 D RGD:9068941 20200609 RGD protein:increased expression:;lymphatic endothelial cell: PMID:17584927|REF_RGD_ID:8552338 12093731 FLT4 fms related receptor tyrosine kinase 4 gene DOID:1520 colon carcinoma ISO RGD:733488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:11807987|PMID:25741868|PMID:28492532 12093731 FLT4 fms related receptor tyrosine kinase 4 gene DOID:3307 teratoma ISO RGD:733488 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 12093731 FLT4 fms related receptor tyrosine kinase 4 gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:733488 D RGD:9068941 20220310 RGD PMID:32626543|REF_RGD_ID:151665104 12093731 FLT4 fms related receptor tyrosine kinase 4 gene DOID:418 systemic scleroderma ISO RGD:733488 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:21865112|REF_RGD_ID:8552335 12093731 FLT4 fms related receptor tyrosine kinase 4 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:733488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25239121 12093731 FLT4 fms related receptor tyrosine kinase 4 gene DOID:4977 lymphedema ISO RGD:733488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12093731 FLT4 fms related receptor tyrosine kinase 4 gene DOID:630 genetic disease ISO RGD:733488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19002718|PMID:24167460|PMID:25741868|PMID:28492532 12093731 FLT4 fms related receptor tyrosine kinase 4 gene DOID:6419 tetralogy of Fallot ISO RGD:733488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28991257 12093731 FLT4 fms related receptor tyrosine kinase 4 gene DOID:9001525 Congenital Heart Defects, Multiple Types, 7 ISO RGD:733488 D RGD:7240710 20200226 OMIM 12093731 FLT4 fms related receptor tyrosine kinase 4 gene DOID:9001525 Congenital Heart Defects, Multiple Types, 7 ISO RGD:733488 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7 PMID:23074044|PMID:24033266|PMID:25741868|PMID:28991257|PMID:30232381|PMID:30582441 12093731 FLT4 fms related receptor tyrosine kinase 4 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:733488 D RGD:7240710 20180130 OMIM 12093731 FLT4 fms related receptor tyrosine kinase 4 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:733488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY PMID:11807987|PMID:25741868|PMID:28492532 12093765 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1349486 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:25741868|PMID:29422393 12093765 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:0050741 alcohol dependence ISO RGD:1349486 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Alcohol dependence 12093765 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1349486 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:29422393 12093765 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:0112214 developmental and epileptic encephalopathy 78 ISO RGD:1349486 D RGD:7240710 20230517 OMIM 12093765 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:0112214 developmental and epileptic encephalopathy 78 ISO RGD:1349486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 78 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78 PMID:25741868|PMID:28492532|PMID:29422393|PMID:29961870|PMID:31032849 12093765 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:12849 autistic disorder ISO RGD:1349486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18821008 12093765 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:12849 autistic disorder ISO RGD:1349486 D RGD:9068941 20200609 RGD DNA:SNP: : PMID:16080114|REF_RGD_ID:6480256 12093765 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:1574 alcohol use disorder ISO RGD:1349486 D RGD:7240710 20230517 OMIM 12093765 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:1574 alcohol use disorder ISO RGD:1349486 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Alcohol dependence 12093765 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:1574 alcohol use disorder susceptibility ISO RGD:1349486 D RGD:9068941 20230518 RGD DNA:SNPs:multiple: PMID:15024690|REF_RGD_ID:6480257 12093765 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:2030 anxiety disorder ISO RGD:1349486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18313124 12093765 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:630 genetic disease ISO RGD:1349486 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12093765 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1349486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19833324|PMID:20133874 12093765 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:9976 heroin dependence ISO RGD:1349486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19833324 12093782 PDK4 pyruvate dehydrogenase kinase 4 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 12093782 PDK4 pyruvate dehydrogenase kinase 4 gene DOID:10283 prostate cancer ISO RGD:69113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12093782 PDK4 pyruvate dehydrogenase kinase 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12093782 PDK4 pyruvate dehydrogenase kinase 4 gene DOID:630 genetic disease ISO RGD:69113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093782 PDK4 pyruvate dehydrogenase kinase 4 gene DOID:684 hepatocellular carcinoma ISO RGD:69113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28003426 12093782 PDK4 pyruvate dehydrogenase kinase 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563825 12093782 PDK4 pyruvate dehydrogenase kinase 4 gene DOID:9007102 Myocardial Ischemia ISO RGD:69113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12093782 PDK4 pyruvate dehydrogenase kinase 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:69113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21182459|PMID:31809757 12093797 NOTCH2 notch receptor 2 gene DOID:0050722 PHGDH deficiency ISO RGD:733357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:28492532 12093797 NOTCH2 notch receptor 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733357 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12093797 NOTCH2 notch receptor 2 gene DOID:0080205 CAKUT ISO RGD:733357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868 12093797 NOTCH2 notch receptor 2 gene DOID:10487 Hirschsprung's disease ISO RGD:733357 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:24728327|PMID:25741868|PMID:28492532 12093797 NOTCH2 notch receptor 2 gene DOID:10591 pre-eclampsia ISO RGD:736047 D RGD:9068941 20220825 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 12093797 NOTCH2 notch receptor 2 gene DOID:1074 kidney failure ISO RGD:733357 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 12093797 NOTCH2 notch receptor 2 gene DOID:14679 VACTERL association ISO RGD:733357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: VATER association PMID:25741868|PMID:28492532 12093797 NOTCH2 notch receptor 2 gene DOID:1749 squamous cell carcinoma ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 12093797 NOTCH2 notch receptor 2 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:733357 D RGD:7240710 20180130 OMIM 12093797 NOTCH2 notch receptor 2 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:733357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar Annotator: match by term: SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME PMID:16773578|PMID:17159511|PMID:17576681|PMID:21378985|PMID:21378989|PMID:21681853|PMID:21712856|PMID:22209762|PMID:22891273|PMID:22891276|PMID:24728327|PMID:25741868|PMID:25741915|PMID:26184537|PMID:27312922|PMID:27592446|PMID:28492532|PMID:28512196|PMID:28566479|PMID:28776642|PMID:28941602|PMID:31130284|PMID:31595186|PMID:32164334|PMID:32341259|PMID:32368696|PMID:33448881|PMID:8723560|PMID:8755249|PMID:9536098 12093797 NOTCH2 notch receptor 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:733357 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 12093797 NOTCH2 notch receptor 2 gene DOID:3068 glioblastoma ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 12093797 NOTCH2 notch receptor 2 gene DOID:3069 malignant astrocytoma ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 12093797 NOTCH2 notch receptor 2 gene DOID:3149 keratoacanthoma ISO RGD:733357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoacanthoma PMID:27283355 12093797 NOTCH2 notch receptor 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 12093797 NOTCH2 notch receptor 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:733357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868|PMID:28492532 12093797 NOTCH2 notch receptor 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12093797 NOTCH2 notch receptor 2 gene DOID:630 genetic disease ISO RGD:733357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12093797 NOTCH2 notch receptor 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30670679 12093797 NOTCH2 notch receptor 2 gene DOID:9000784 Fibrosis ISO RGD:733357 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 12093797 NOTCH2 notch receptor 2 gene DOID:9000812 Acroosteolysis Dominant Type ISO RGD:733357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acroosteolysis dominant type PMID:24728327|PMID:25741868|PMID:28492532|PMID:28566479|PMID:28776642 12093797 NOTCH2 notch receptor 2 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:733357 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 12093797 NOTCH2 notch receptor 2 gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 12093797 NOTCH2 notch receptor 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 12093797 NOTCH2 notch receptor 2 gene DOID:9004286 Hirschsprung Disease 1 ISO RGD:733357 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hirschsprung disease 1 PMID:24728327|PMID:25741868|PMID:28492532 12093797 NOTCH2 notch receptor 2 gene DOID:9004464 Skin Neoplasms ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 12093797 NOTCH2 notch receptor 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30670679 12093797 NOTCH2 notch receptor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17804716 12093797 NOTCH2 notch receptor 2 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 12093797 NOTCH2 notch receptor 2 gene DOID:9006182 Carotid Artery Injuries ISO RGD:3188 D RGD:9068941 20200609 RGD PMID:11971902|REF_RGD_ID:625426 12093797 NOTCH2 notch receptor 2 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:733357 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis PMID:21378985|PMID:21378989|PMID:22891273|PMID:22891276|PMID:25741868|PMID:27312922|PMID:28492532|PMID:8755249 12093797 NOTCH2 notch receptor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 12093797 NOTCH2 notch receptor 2 gene DOID:9245 Alagille syndrome ISO RGD:733357 D RGD:7240710 20180130 OMIM 12093797 NOTCH2 notch receptor 2 gene DOID:9245 Alagille syndrome ISO RGD:733357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 PMID:16773578|PMID:24728327|PMID:25016221|PMID:25741868|PMID:28492532|PMID:28512196|PMID:28566479|PMID:28776642|PMID:28941602|PMID:31749841 12093797 NOTCH2 notch receptor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18372903 12093797 NOTCH2 notch receptor 2 gene DOID:9538 multiple myeloma ISO RGD:733357 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow (human) PMID:14726396|REF_RGD_ID:1580763 12093839 MRO maestro gene DOID:1059 intellectual disability ISO RGD:1342837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12093839 MRO maestro gene DOID:630 genetic disease ISO RGD:1342837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093839 MRO maestro gene DOID:684 hepatocellular carcinoma ISO RGD:1342837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12093839 MRO maestro gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12093856 OSCAR osteoclast associated Ig-like receptor gene DOID:630 genetic disease ISO RGD:1603587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093870 FAM76B family with sequence similarity 76 member B gene DOID:1059 intellectual disability ISO RGD:1605286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12093870 FAM76B family with sequence similarity 76 member B gene DOID:12704 ataxia telangiectasia ISO RGD:1605286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12093870 FAM76B family with sequence similarity 76 member B gene DOID:630 genetic disease ISO RGD:1605286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093896 OR52N2 olfactory receptor family 52 subfamily N member 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12093899 CABP7 calcium binding protein 7 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1348796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 12093899 CABP7 calcium binding protein 7 gene DOID:630 genetic disease ISO RGD:1348796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093899 CABP7 calcium binding protein 7 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1348796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:21876083|PMID:24713400|PMID:28492532 12093908 TMEM39B transmembrane protein 39B gene DOID:630 genetic disease ISO RGD:1351966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093924 MYH15 myosin heavy chain 15 gene DOID:630 genetic disease ISO RGD:1348086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093924 MYH15 myosin heavy chain 15 gene DOID:9000528 Coronary Disease ISO RGD:1348086 D RGD:9068941 20200609 RGD DNA:snp:exon:EX28T>C rs3900940 (human) PMID:18073581|REF_RGD_ID:2317145 12093924 MYH15 myosin heavy chain 15 gene DOID:9007096 Stroke ISO RGD:1348086 D RGD:9068941 20200609 RGD DNA:snp:exon:EX28T>C rs3900940 (human) PMID:19752551|REF_RGD_ID:2317144 12093968 FNDC3B fibronectin type III domain containing 3B gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1343110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28314734 12093968 FNDC3B fibronectin type III domain containing 3B gene DOID:10126 keratoconus ISO RGD:1343110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291589 12093968 FNDC3B fibronectin type III domain containing 3B gene DOID:1062 Fanconi syndrome ISO RGD:1343110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 12093968 FNDC3B fibronectin type III domain containing 3B gene DOID:1067 open-angle glaucoma ISO RGD:1343110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291589 12093968 FNDC3B fibronectin type III domain containing 3B gene DOID:630 genetic disease ISO RGD:1343110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12093968 FNDC3B fibronectin type III domain containing 3B gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1343110 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 12093997 MBTPS1 membrane bound transcription factor peptidase, site 1 gene DOID:0060250 idiopathic scoliosis ISO RGD:737210 D RGD:9068941 20220825 MouseDO 12093997 MBTPS1 membrane bound transcription factor peptidase, site 1 gene DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type ISO RGD:732575 D RGD:7240710 20190911 OMIM 12093997 MBTPS1 membrane bound transcription factor peptidase, site 1 gene DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type ISO RGD:732575 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, kondo-fu type PMID:25741868|PMID:28492532|PMID:30046013|PMID:30099045|PMID:32064983 12093997 MBTPS1 membrane bound transcription factor peptidase, site 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:732575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12093997 MBTPS1 membrane bound transcription factor peptidase, site 1 gene DOID:630 genetic disease ISO RGD:732575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12093997 MBTPS1 membrane bound transcription factor peptidase, site 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563831 12093997 MBTPS1 membrane bound transcription factor peptidase, site 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12093997 MBTPS1 membrane bound transcription factor peptidase, site 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 12093997 MBTPS1 membrane bound transcription factor peptidase, site 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:732575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12094024 RCC1L RCC1 like gene DOID:1928 Williams-Beuren syndrome ISO RGD:1316823 D RGD:9068941 20200609 RGD PMID:12073013|REF_RGD_ID:1580600 12094024 RCC1L RCC1 like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12094024 RCC1L RCC1 like gene DOID:630 genetic disease ISO RGD:1316823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094024 RCC1L RCC1 like gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1316823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12094039 KNDC1 kinase non-catalytic C-lobe domain containing 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1351519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12094039 KNDC1 kinase non-catalytic C-lobe domain containing 1 gene DOID:3007 breast ductal carcinoma ISO RGD:1351519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12094039 KNDC1 kinase non-catalytic C-lobe domain containing 1 gene DOID:630 genetic disease ISO RGD:1351519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094066 TBC1D25 TBC1 domain family member 25 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12094066 TBC1D25 TBC1 domain family member 25 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1351229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12094066 TBC1D25 TBC1 domain family member 25 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1351229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12094066 TBC1D25 TBC1 domain family member 25 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1351229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12094066 TBC1D25 TBC1 domain family member 25 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1351229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12094066 TBC1D25 TBC1 domain family member 25 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1351229 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12094066 TBC1D25 TBC1 domain family member 25 gene DOID:12849 autistic disorder ISO RGD:1351229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12094066 TBC1D25 TBC1 domain family member 25 gene DOID:14228 oligospermia ISO RGD:1351229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligospermia 12094066 TBC1D25 TBC1 domain family member 25 gene DOID:630 genetic disease ISO RGD:1351229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094080 SALL3 spalt like transcription factor 3 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1321014 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12094080 SALL3 spalt like transcription factor 3 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1321014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 12094080 SALL3 spalt like transcription factor 3 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1321014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 12094080 SALL3 spalt like transcription factor 3 gene DOID:630 genetic disease ISO RGD:1321014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094080 SALL3 spalt like transcription factor 3 gene DOID:6420 pulmonary valve stenosis ISO RGD:1321014 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12094080 SALL3 spalt like transcription factor 3 gene DOID:8445 intestinal volvulus ISO RGD:1321014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12094080 SALL3 spalt like transcription factor 3 gene DOID:8584 Burkitt lymphoma ISO RGD:1321014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 12094080 SALL3 spalt like transcription factor 3 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1321014 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 12094080 SALL3 spalt like transcription factor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12094080 SALL3 spalt like transcription factor 3 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1321014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12094080 SALL3 spalt like transcription factor 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1321014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15282310 12094080 SALL3 spalt like transcription factor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12094088 PYY peptide YY gene DOID:0080074 neural tube defect ISO RGD:1348512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17400914 12094088 PYY peptide YY gene DOID:10652 Alzheimer's disease ISO RGD:1348512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11709213 12094088 PYY peptide YY gene DOID:13250 diarrhea ISO RGD:1348512 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19925840 12094088 PYY peptide YY gene DOID:630 genetic disease ISO RGD:1348512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094088 PYY peptide YY gene DOID:9001109 Anorexia ISO RGD:1348512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22903826|PMID:29689362 12094088 PYY peptide YY gene DOID:9007692 Insulin Resistance ISO RGD:1348512 D RGD:9068941 20200609 RGD protein:decreased expression PMID:17045646|REF_RGD_ID:1625281 12094088 PYY peptide YY gene DOID:9008385 Vomiting ISO RGD:1348512 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33581213 12094088 PYY peptide YY gene DOID:9008972 Hyperammonemia ISO RGD:1348512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperammonemia, type III PMID:28492532 12094088 PYY peptide YY gene DOID:9970 obesity ISO RGD:1348512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:10898754|PMID:11825645|PMID:16368708 12094098 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:0050722 PHGDH deficiency ISO RGD:737571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:28492532 12094098 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:0081168 HMG-CoA synthase 2 deficiency ISO RGD:737571 D RGD:7240710 20180130 OMIM 12094098 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:0081168 HMG-CoA synthase 2 deficiency ISO RGD:737571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY PMID:11228257|PMID:11479731|PMID:12072887|PMID:12647205|PMID:16199547|PMID:17576681|PMID:20346956|PMID:23751782|PMID:25511235|PMID:25741868|PMID:28492532|PMID:29597274|PMID:30477625|PMID:31910233|PMID:32259399|PMID:32952630|PMID:33045405|PMID:9337379|PMID:9536098|PMID:9727719 12094098 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:2804 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver, mitochondrion (rat) PMID:12399220|REF_RGD_ID:2326121 12094098 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:737571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 12094098 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:6000 congestive heart failure ISO RGD:737571 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12094098 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:630 genetic disease ISO RGD:737571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12094098 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737571 D RGD:9068941 20200609 RGD PMID:28867541|REF_RGD_ID:14975299 12094098 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:9002801 Recurrence ISO RGD:737571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27816970 12094098 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:737571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925|PMID:27816970 12094098 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27816970 12094098 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:9005369 Hepatomegaly ISO RGD:2804 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:10892723|REF_RGD_ID:2326126 12094098 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2804 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:7902069|REF_RGD_ID:2326135 12094098 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:737571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12094098 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:737571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27816970 12094112 PLA2G4D phospholipase A2 group IVD gene DOID:2717 Bloom syndrome ISO RGD:1352050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12094112 PLA2G4D phospholipase A2 group IVD gene DOID:630 genetic disease ISO RGD:1352050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094112 PLA2G4D phospholipase A2 group IVD gene DOID:9256 colorectal cancer ISO RGD:1352050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12094135 USB1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606230 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12094135 USB1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:0060551 poikiloderma with neutropenia ISO RGD:1606230 D RGD:7240710 20190315 OMIM 12094135 USB1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:0060551 poikiloderma with neutropenia ISO RGD:1606230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Poikiloderma with neutropenia PMID:11737690|PMID:16199547|PMID:18925663|PMID:20004881|PMID:20503306|PMID:20618321|PMID:20817924|PMID:21271650|PMID:21872685|PMID:21967010|PMID:23190533|PMID:25044170|PMID:25741868|PMID:27247962|PMID:27612988|PMID:28492532|PMID:29072891|PMID:29770900|PMID:29982244|PMID:32897901|PMID:34179048 12094135 USB1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606230 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12094135 USB1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606230 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12094135 USB1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:630 genetic disease ISO RGD:1606230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12094146 TEX12 testis expressed 12 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1351277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:19830588|PMID:20059486|PMID:25741868|PMID:28492532|PMID:31332730|PMID:32651154|PMID:33234470|PMID:33822819|PMID:7563095 12094146 TEX12 testis expressed 12 gene DOID:1059 intellectual disability ISO RGD:1351277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12094146 TEX12 testis expressed 12 gene DOID:630 genetic disease ISO RGD:1351277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094146 TEX12 testis expressed 12 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12094146 TEX12 testis expressed 12 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1351277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 12094155 LOC612207 insulin growth factor-like family member 3 gene DOID:630 genetic disease ISO RGD:1603833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094187 LOC100683387 olfactory receptor 6C2 gene DOID:630 genetic disease ISO RGD:1604704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094188 ARRDC1 arrestin domain containing 1 gene DOID:0050777 Joubert syndrome ISO RGD:1320585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12094188 ARRDC1 arrestin domain containing 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1320585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12094188 ARRDC1 arrestin domain containing 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1320585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12094188 ARRDC1 arrestin domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1320585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12094188 ARRDC1 arrestin domain containing 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1320585 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12094188 ARRDC1 arrestin domain containing 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1320585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12094188 ARRDC1 arrestin domain containing 1 gene DOID:1826 epilepsy ISO RGD:1320585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12094188 ARRDC1 arrestin domain containing 1 gene DOID:630 genetic disease ISO RGD:1320585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094188 ARRDC1 arrestin domain containing 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1320585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12094213 KRTAP24-1 keratin associated protein 24-1 gene DOID:630 genetic disease ISO RGD:2292073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094219 MIR448 microRNA mir-448 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12094219 MIR448 microRNA mir-448 gene DOID:11476 osteoporosis ISO RGD:1605755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 PMID:24088041|PMID:26633545 12094219 MIR448 microRNA mir-448 gene DOID:12849 autistic disorder ISO RGD:1605755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12094219 MIR448 microRNA mir-448 gene DOID:12858 Huntington's disease ISO RGD:1607607 D RGD:9068941 20200609 RGD up-regulated PMID:21035445|REF_RGD_ID:11041745 12094219 MIR448 microRNA mir-448 gene DOID:5419 schizophrenia ISO RGD:1605755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12094290 SLC38A3 solute carrier family 38 member 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:730997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12094290 SLC38A3 solute carrier family 38 member 3 gene DOID:0050758 metabolic acidosis treatment ISO RGD:628620 D RGD:9068941 20200609 RGD PMID:16954343|REF_RGD_ID:9999224 12094290 SLC38A3 solute carrier family 38 member 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:730997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12094290 SLC38A3 solute carrier family 38 member 3 gene DOID:11832 visual epilepsy ISO RGD:628620 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:21138736|REF_RGD_ID:9999229 12094290 SLC38A3 solute carrier family 38 member 3 gene DOID:630 genetic disease ISO RGD:730997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094290 SLC38A3 solute carrier family 38 member 3 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:730997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12094290 SLC38A3 solute carrier family 38 member 3 gene DOID:9004423 Developmental and Epileptic Encephalopathy 102 ISO RGD:730997 D RGD:7240710 20220608 OMIM 12094290 SLC38A3 solute carrier family 38 member 3 gene DOID:9004423 Developmental and Epileptic Encephalopathy 102 ISO RGD:730997 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 102 PMID:25741868|PMID:31130284|PMID:34605855 12094290 SLC38A3 solute carrier family 38 member 3 gene DOID:9005930 Endotoxemia ISO RGD:628620 D RGD:9068941 20200609 RGD PMID:20036385|REF_RGD_ID:9999227 12094290 SLC38A3 solute carrier family 38 member 3 gene DOID:9007661 Dwarfism ISO RGD:730997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12094290 SLC38A3 solute carrier family 38 member 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:730997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12094313 ABHD12 abhydrolase domain containing 12, lysophospholipase gene DOID:0050795 cone dystrophy ISO RGD:1314604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:24697911 12094313 ABHD12 abhydrolase domain containing 12, lysophospholipase gene DOID:0080181 PHARC syndrome ISO RGD:1314604 D RGD:7240710 20180130 OMIM 12094313 ABHD12 abhydrolase domain containing 12, lysophospholipase gene DOID:0080181 PHARC syndrome ISO RGD:1314604 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: PHARC syndrome PMID:17576681|PMID:20797687|PMID:23806086|PMID:24088041|PMID:24697911|PMID:25741868|PMID:26257172|PMID:26467025|PMID:28041643|PMID:28492532|PMID:29571850|PMID:31690835|PMID:9536098 12094313 ABHD12 abhydrolase domain containing 12, lysophospholipase gene DOID:630 genetic disease ISO RGD:1314604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12094313 ABHD12 abhydrolase domain containing 12, lysophospholipase gene DOID:8501 fundus dystrophy ISO RGD:1314604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:22938382|PMID:28041643|PMID:28492532 12094313 ABHD12 abhydrolase domain containing 12, lysophospholipase gene DOID:9004538 Hearing Loss ISO RGD:1314604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 12094333 HOXB3 homeobox B3 gene DOID:630 genetic disease ISO RGD:1321880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094333 HOXB3 homeobox B3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1321880 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34652879 12094333 HOXB3 homeobox B3 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:1321880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18351244 12094359 LIMS1 LIM zinc finger domain containing 1 gene DOID:0111201 distal hereditary motor neuronopathy type 7A ISO RGD:1313937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:28492532 12094359 LIMS1 LIM zinc finger domain containing 1 gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1313937 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PMID:10431241|PMID:10431242|PMID:18854857|PMID:20979233|PMID:28492532|PMID:28981473 12094359 LIMS1 LIM zinc finger domain containing 1 gene DOID:630 genetic disease ISO RGD:1313937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094359 LIMS1 LIM zinc finger domain containing 1 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1313937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:28492532 12094400 CFAP57 cilia and flagella associated protein 57 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12094400 CFAP57 cilia and flagella associated protein 57 gene DOID:630 genetic disease ISO RGD:1603569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094400 CFAP57 cilia and flagella associated protein 57 gene DOID:9007802 GLUT1 Deficiency Syndrome ISO RGD:1603569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive PMID:28492532 12094400 CFAP57 cilia and flagella associated protein 57 gene DOID:9008934 Van der Woude Syndrome 2 ISO RGD:1603569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Van der Woude syndrome 2 PMID:21574244 12094400 CFAP57 cilia and flagella associated protein 57 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1603569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:32764743 12094441 ME2 malic enzyme 2 gene DOID:1059 intellectual disability ISO RGD:1321157 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12094441 ME2 malic enzyme 2 gene DOID:630 genetic disease ISO RGD:1321157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094441 ME2 malic enzyme 2 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1310321 D RGD:9068941 20220224 RGD mRNA:increased expression:right and right ventricles PMID:23794090|REF_RGD_ID:151361111 12094464 BLVRB biliverdin reductase B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1314490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12094464 BLVRB biliverdin reductase B gene DOID:1342 congenital hypoplastic anemia ISO RGD:1314490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12094464 BLVRB biliverdin reductase B gene DOID:2340 craniosynostosis ISO RGD:1314490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12094464 BLVRB biliverdin reductase B gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1314490 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12094464 BLVRB biliverdin reductase B gene DOID:630 genetic disease ISO RGD:1314490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094464 BLVRB biliverdin reductase B gene DOID:9000217 Stomach Neoplasms ISO RGD:1314490 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 12094464 BLVRB biliverdin reductase B gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1314490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12094464 BLVRB biliverdin reductase B gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1314490 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12094464 BLVRB biliverdin reductase B gene DOID:9269 maple syrup urine disease ISO RGD:1314490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12094473 TMEM205 transmembrane protein 205 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1605798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12094473 TMEM205 transmembrane protein 205 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1605798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12094473 TMEM205 transmembrane protein 205 gene DOID:0111254 glutaric acidemia I ISO RGD:1605798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12094473 TMEM205 transmembrane protein 205 gene DOID:3413 alpha-mannosidosis ISO RGD:1605798 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12094473 TMEM205 transmembrane protein 205 gene DOID:630 genetic disease ISO RGD:1605798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094481 BCCIP BRCA2 and CDKN1A interacting protein gene DOID:630 genetic disease ISO RGD:1316516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12094494 DAPP1 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 gene DOID:0080600 COVID-19 ISO RGD:1320943 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12094494 DAPP1 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 gene DOID:630 genetic disease ISO RGD:1320943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094494 DAPP1 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 gene DOID:8398 osteoarthritis ISO RGD:1320943 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12094511 CMBL carboxymethylenebutenolidase homolog gene DOID:630 genetic disease ISO RGD:1606460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094531 SGO2 shugoshin 2 gene DOID:630 genetic disease ISO RGD:1318224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094531 SGO2 shugoshin 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1318224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12094531 SGO2 shugoshin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12094555 USP21 ubiquitin specific peptidase 21 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1349681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12094555 USP21 ubiquitin specific peptidase 21 gene DOID:1540 parathyroid carcinoma ISO RGD:1349681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12094555 USP21 ubiquitin specific peptidase 21 gene DOID:630 genetic disease ISO RGD:1349681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094555 USP21 ubiquitin specific peptidase 21 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12094572 FAM114A1 family with sequence similarity 114 member A1 gene DOID:630 genetic disease ISO RGD:1606191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094572 FAM114A1 family with sequence similarity 114 member A1 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1606191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 12094592 GAK cyclin G associated kinase gene DOID:14330 Parkinson's disease ISO RGD:731643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20711177 12094592 GAK cyclin G associated kinase gene DOID:1856 cherubism ISO RGD:731643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12094592 GAK cyclin G associated kinase gene DOID:630 genetic disease ISO RGD:731643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094592 GAK cyclin G associated kinase gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:731643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 12094648 DEPDC1 DEP domain containing 1 gene DOID:0110016 Leber congenital amaurosis 2 ISO RGD:1315914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 2 PMID:18632300|PMID:28492532|PMID:9326941|PMID:9501220|PMID:9843205 12094648 DEPDC1 DEP domain containing 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1315914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 12094648 DEPDC1 DEP domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1315914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12094648 DEPDC1 DEP domain containing 1 gene DOID:630 genetic disease ISO RGD:1315914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094648 DEPDC1 DEP domain containing 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1315914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12094666 KCTD1 potassium channel tetramerization domain containing 1 gene DOID:0111550 scalp-ear-nipple syndrome ISO RGD:1352985 D RGD:7240710 20180130 OMIM 12094666 KCTD1 potassium channel tetramerization domain containing 1 gene DOID:0111550 scalp-ear-nipple syndrome ISO RGD:1352985 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Scalp-ear-nipple syndrome PMID:10517259|PMID:16411189|PMID:1799422|PMID:23541344|PMID:25741868|PMID:28492532|PMID:8042668|PMID:9383029 12094666 KCTD1 potassium channel tetramerization domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1352985 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12094666 KCTD1 potassium channel tetramerization domain containing 1 gene DOID:630 genetic disease ISO RGD:1352985 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12094679 IPO4 importin 4 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1313095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12094679 IPO4 importin 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1313095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12094679 IPO4 importin 4 gene DOID:630 genetic disease ISO RGD:1313095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094679 IPO4 importin 4 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1313095 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12094679 IPO4 importin 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1313095 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12094679 IPO4 importin 4 gene DOID:9006205 Animal Disease Models ISO RGD:1313095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12094713 PCNX1 pecanex 1 gene DOID:10283 prostate cancer ISO RGD:1352404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12094713 PCNX1 pecanex 1 gene DOID:630 genetic disease ISO RGD:1352404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094770 USP32 ubiquitin specific peptidase 32 gene DOID:0050777 Joubert syndrome ISO RGD:1315395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12094770 USP32 ubiquitin specific peptidase 32 gene DOID:11372 megacolon ISO RGD:1315395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12094770 USP32 ubiquitin specific peptidase 32 gene DOID:4001 ovarian carcinoma ISO RGD:1315395 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 12094770 USP32 ubiquitin specific peptidase 32 gene DOID:630 genetic disease ISO RGD:1315395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094810 RAB23 RAB23, member RAS oncogene family gene DOID:0060234 Carpenter syndrome ISO RGD:1315728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ACPS 2 | ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome PMID:16199547|PMID:17503333|PMID:17576681|PMID:20358613|PMID:21412941|PMID:23599695|PMID:24458945|PMID:25168863|PMID:25741868|PMID:28492532|PMID:9536098 12094810 RAB23 RAB23, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1315728 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17503333|PMID:17576681|PMID:21412941|PMID:24458945|PMID:25741868|PMID:28492532|PMID:9536098 12094810 RAB23 RAB23, member RAS oncogene family gene DOID:9005101 Carpenter Syndrome 1 ISO RGD:1315728 D RGD:7240710 20180130 OMIM 12094810 RAB23 RAB23, member RAS oncogene family gene DOID:9005101 Carpenter Syndrome 1 ISO RGD:1315728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 1 PMID:17503333|PMID:20358613|PMID:21412941|PMID:23599695|PMID:24458945|PMID:25741868|PMID:28492532 12094810 RAB23 RAB23, member RAS oncogene family gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12094821 MYADML2 myeloid associated differentiation marker like 2 gene DOID:630 genetic disease ISO RGD:2303467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094827 RELB RELB proto-oncogene, NF-kB subunit gene DOID:0111992 immunodeficiency 53 ISO RGD:1353567 D RGD:7240710 20190315 OMIM 12094827 RELB RELB proto-oncogene, NF-kB subunit gene DOID:0111992 immunodeficiency 53 ISO RGD:1353567 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency 53 PMID:25741868|PMID:26385063|PMID:28492532 12094827 RELB RELB proto-oncogene, NF-kB subunit gene DOID:11716 prediabetes syndrome ISO RGD:2321078 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic islet PMID:10630383|REF_RGD_ID:7777162 12094827 RELB RELB proto-oncogene, NF-kB subunit gene DOID:1612 breast cancer ISO RGD:1353567 D RGD:9068941 20200609 RGD protein:decreased localization:T cell, nucleus PMID:9724088|REF_RGD_ID:2298697 12094827 RELB RELB proto-oncogene, NF-kB subunit gene DOID:1612 breast cancer ISO RGD:1353567 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:21640702|REF_RGD_ID:7777150 12094827 RELB RELB proto-oncogene, NF-kB subunit gene DOID:2671 transitional cell carcinoma ISO RGD:1353567 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder mucosa, nucleus PMID:12452071|REF_RGD_ID:2300270 12094827 RELB RELB proto-oncogene, NF-kB subunit gene DOID:3310 atopic dermatitis ISO RGD:1558382 D RGD:9068941 20200609 RGD PMID:10940923|REF_RGD_ID:7777149 12094827 RELB RELB proto-oncogene, NF-kB subunit gene DOID:3310 atopic dermatitis ISO RGD:1558382 D RGD:9068941 20220825 MouseDO OMIM:603165 12094827 RELB RELB proto-oncogene, NF-kB subunit gene DOID:5199 ureteral obstruction ISO RGD:2321078 D RGD:9068941 20200609 RGD protein:increased activity:kidney PMID:9328931|REF_RGD_ID:7777163 12094827 RELB RELB proto-oncogene, NF-kB subunit gene DOID:557 kidney disease ISO RGD:2321078 D RGD:9068941 20200609 RGD protein:increased localization: kidney tubule epithelium, nucleus PMID:22017545|REF_RGD_ID:6483553 12094827 RELB RELB proto-oncogene, NF-kB subunit gene DOID:630 genetic disease ISO RGD:1353567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12094827 RELB RELB proto-oncogene, NF-kB subunit gene DOID:767 muscular atrophy ISO RGD:2321078 D RGD:9068941 20200609 RGD protein:decreased localization:soleus, nucleus PMID:11919155|REF_RGD_ID:7777164 12094827 RELB RELB proto-oncogene, NF-kB subunit gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1558382 D RGD:9068941 20200609 RGD PMID:12897145|REF_RGD_ID:2300264 12094827 RELB RELB proto-oncogene, NF-kB subunit gene DOID:9002676 Cerebral Hemorrhage ISO RGD:2321078 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:striatum PMID:17250675|REF_RGD_ID:2302394 12094827 RELB RELB proto-oncogene, NF-kB subunit gene DOID:9004283 Transplant Rejection treatment ISO RGD:2321078 D RGD:9068941 20200609 RGD PMID:23196258|REF_RGD_ID:7777161 12094827 RELB RELB proto-oncogene, NF-kB subunit gene DOID:9004649 Heat Stroke ISO RGD:1353567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 12094827 RELB RELB proto-oncogene, NF-kB subunit gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1558382 D RGD:9068941 20200609 RGD PMID:16260626|REF_RGD_ID:7777148 12094847 LOC485141 tripartite motif-containing protein 77-like gene DOID:1059 intellectual disability ISO RGD:2293601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12094847 LOC485141 tripartite motif-containing protein 77-like gene DOID:630 genetic disease ISO RGD:2293601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094862 GPCPD1 glycerophosphocholine phosphodiesterase 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1606261 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12094862 GPCPD1 glycerophosphocholine phosphodiesterase 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1606261 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12094862 GPCPD1 glycerophosphocholine phosphodiesterase 1 gene DOID:630 genetic disease ISO RGD:1606261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094862 GPCPD1 glycerophosphocholine phosphodiesterase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1606261 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25482527 12094891 MYO9A myosin IXA gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:732261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868|PMID:33412162 12094891 MYO9A myosin IXA gene DOID:14159 obstructive hydrocephalus ISO RGD:1551281 D RGD:9068941 20220825 MouseDO 12094891 MYO9A myosin IXA gene DOID:2717 Bloom syndrome ISO RGD:732261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12094891 MYO9A myosin IXA gene DOID:3320 Tay-Sachs disease ISO RGD:732261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 12094891 MYO9A myosin IXA gene DOID:3635 congenital myasthenic syndrome ISO RGD:732261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Presynaptic congenital myasthenic syndromes PMID:25741868 12094891 MYO9A myosin IXA gene DOID:630 genetic disease ISO RGD:732261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12094891 MYO9A myosin IXA gene DOID:9006836 Contracture ISO RGD:732261 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Contractures PMID:25741868|PMID:26752647 12094891 MYO9A myosin IXA gene DOID:9009246 Congenital Myasthenic Syndrome 24 ISO RGD:732261 D RGD:7240710 20190315 OMIM 12094891 MYO9A myosin IXA gene DOID:9009246 Congenital Myasthenic Syndrome 24 ISO RGD:732261 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 24, presynaptic PMID:25741868|PMID:26752647|PMID:27259756|PMID:28492532|PMID:30237576|PMID:33412162 12094891 MYO9A myosin IXA gene DOID:9256 colorectal cancer ISO RGD:732261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12094891 MYO9A myosin IXA gene DOID:9563 bronchiectasis ISO RGD:732261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bronchiectasis 12094948 TLR1 toll like receptor 1 gene DOID:1024 leprosy ISO RGD:1320607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 | ClinVar Annotator: match by term: Leprosy, susceptibility to, 5 PMID:17475868|PMID:17548585|PMID:18461142|PMID:19456232|PMID:23105135|PMID:26729809 12094948 TLR1 toll like receptor 1 gene DOID:1024 leprosy susceptibility ISO RGD:1320607 D RGD:7240710 20190502 OMIM 12094948 TLR1 toll like receptor 1 gene DOID:11400 pyelonephritis susceptibility ISO RGD:1320607 D RGD:9068941 20200609 RGD DNA:snp:cds:p.S602I (human) PMID:19543401|REF_RGD_ID:7246906 12094948 TLR1 toll like receptor 1 gene DOID:13564 aspergillosis susceptibility ISO RGD:1320607 D RGD:9068941 20200609 RGD DNA:SNPs: :p.R80T, p.N248S (human) PMID:16461792|REF_RGD_ID:4889535 12094948 TLR1 toll like receptor 1 gene DOID:2841 asthma susceptibility ISO RGD:1320607 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:18547625|REF_RGD_ID:4889528 12094948 TLR1 toll like receptor 1 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1320608 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (mouse) PMID:18256364|REF_RGD_ID:7246909 12094948 TLR1 toll like receptor 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:1320607 D RGD:9068941 20200609 RGD mRNA:increased expression:blood PMID:16493059|REF_RGD_ID:4889525 12094948 TLR1 toll like receptor 1 gene DOID:2986 IgA glomerulonephritis susceptibility ISO RGD:1320607 D RGD:9068941 20200609 RGD DNA:snps:promoter, cds:g.-414C>T, p.N248S (rs5743557, rs4833095) (human) PMID:21108742|REF_RGD_ID:7246898 12094948 TLR1 toll like receptor 1 gene DOID:399 tuberculosis susceptibility ISO RGD:1320607 D RGD:9068941 20200609 RGD DNA:snps, haplotype:cds:p.N248S, p.S602I (human) PMID:18091991|REF_RGD_ID:7246918 12094948 TLR1 toll like receptor 1 gene DOID:630 genetic disease ISO RGD:1320607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12094948 TLR1 toll like receptor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1320607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis PMID:32594150 12094948 TLR1 toll like receptor 1 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1309975 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum PMID:19608731|REF_RGD_ID:5128779 12094948 TLR1 toll like receptor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1320608 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord (mouse) PMID:21970496|REF_RGD_ID:7246886 12094948 TLR1 toll like receptor 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1320608 D RGD:9068941 20200609 RGD PMID:21970496|REF_RGD_ID:7246886 12094948 TLR1 toll like receptor 1 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1320607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 12094948 TLR1 toll like receptor 1 gene DOID:9000998 Brain Injuries ISO RGD:1320607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 12094948 TLR1 toll like receptor 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1320607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18466103 12094994 VCAN versican gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1349729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12094994 VCAN versican gene DOID:10283 prostate cancer ISO RGD:1349729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 12094994 VCAN versican gene DOID:10941 intracranial aneurysm ISO RGD:1349729 D RGD:9068941 20200609 RGD DNA:SNP: :rs173686 (human) PMID:16917090|REF_RGD_ID:1598495 12094994 VCAN versican gene DOID:289 endometriosis ISO RGD:1349729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12094994 VCAN versican gene DOID:5844 myocardial infarction ISO RGD:619940 D RGD:9068941 20200609 RGD PMID:16311904|REF_RGD_ID:1598497 12094994 VCAN versican gene DOID:630 genetic disease ISO RGD:1349729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16043844|PMID:16877430|PMID:21738396|PMID:22739342|PMID:25741868|PMID:28492532 12094994 VCAN versican gene DOID:8501 fundus dystrophy ISO RGD:1349729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16043844|PMID:16877430|PMID:21738396|PMID:22739342|PMID:28492532 12094994 VCAN versican gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1349729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12094994 VCAN versican gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12094994 VCAN versican gene DOID:9005830 Hyaloideoretinal Degeneration of Wagner ISO RGD:1349729 D RGD:7240710 20180130 OMIM 12094994 VCAN versican gene DOID:9005830 Hyaloideoretinal Degeneration of Wagner ISO RGD:1349729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wagner syndrome PMID:10333105|PMID:16043844|PMID:16636652|PMID:16877430|PMID:17035272|PMID:19655167|PMID:19901218|PMID:21738396|PMID:22739342|PMID:2319589|PMID:23462753|PMID:23571384|PMID:24174867|PMID:25741868|PMID:28492532 12094994 VCAN versican gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:619940 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:16311904|REF_RGD_ID:1598497 12095017 DUSP13 dual specificity phosphatase 13 gene DOID:630 genetic disease ISO RGD:1344710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095017 DUSP13 dual specificity phosphatase 13 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1344710 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 12095036 TVP23A trans-golgi network vesicle protein 23 homolog A gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1343449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 12095036 TVP23A trans-golgi network vesicle protein 23 homolog A gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1343449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 12095036 TVP23A trans-golgi network vesicle protein 23 homolog A gene DOID:5812 MHC class II deficiency ISO RGD:1343449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:26271388|PMID:28492532|PMID:8402893|PMID:9099848 12095036 TVP23A trans-golgi network vesicle protein 23 homolog A gene DOID:630 genetic disease ISO RGD:1343449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095048 STXBP3 syntaxin binding protein 3 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:732509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12095048 STXBP3 syntaxin binding protein 3 gene DOID:0112045 non-syndromic X-linked intellectual disability 93 ISO RGD:732509 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 93 PMID:25741868 12095048 STXBP3 syntaxin binding protein 3 gene DOID:12849 autistic disorder ISO RGD:732509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12095048 STXBP3 syntaxin binding protein 3 gene DOID:630 genetic disease ISO RGD:732509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095077 RNPEP arginyl aminopeptidase gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:733030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12095077 RNPEP arginyl aminopeptidase gene DOID:10763 hypertension ISO RGD:621137 D RGD:9068941 20200609 RGD PMID:3001599|REF_RGD_ID:2325950 12095077 RNPEP arginyl aminopeptidase gene DOID:10763 hypertension ISO RGD:621137 D RGD:9068941 20200609 RGD protein:increased expression:adrenal gland, neurohypophysis PMID:9660082|REF_RGD_ID:2325942 12095077 RNPEP arginyl aminopeptidase gene DOID:1540 parathyroid carcinoma ISO RGD:733030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12095077 RNPEP arginyl aminopeptidase gene DOID:630 genetic disease ISO RGD:733030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095077 RNPEP arginyl aminopeptidase gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:733030 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12095077 RNPEP arginyl aminopeptidase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:621137 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16619500|REF_RGD_ID:1582109 12095077 RNPEP arginyl aminopeptidase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733030 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16619500 12095077 RNPEP arginyl aminopeptidase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12095092 ATG14 autophagy related 14 gene DOID:630 genetic disease ISO RGD:1312148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095107 AURKAIP1 aurora kinase A interacting protein 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1606265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12095107 AURKAIP1 aurora kinase A interacting protein 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606265 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12095107 AURKAIP1 aurora kinase A interacting protein 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1606265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12095107 AURKAIP1 aurora kinase A interacting protein 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1606265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12095107 AURKAIP1 aurora kinase A interacting protein 1 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1606265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12095107 AURKAIP1 aurora kinase A interacting protein 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1606265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12095107 AURKAIP1 aurora kinase A interacting protein 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:1606265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12095107 AURKAIP1 aurora kinase A interacting protein 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:1606265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12095107 AURKAIP1 aurora kinase A interacting protein 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1606265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12095107 AURKAIP1 aurora kinase A interacting protein 1 gene DOID:630 genetic disease ISO RGD:1606265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095107 AURKAIP1 aurora kinase A interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12095107 AURKAIP1 aurora kinase A interacting protein 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1606265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12095107 AURKAIP1 aurora kinase A interacting protein 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1606265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12095120 SMCO4 single-pass membrane protein with coiled-coil domains 4 gene DOID:1059 intellectual disability ISO RGD:1601987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12095120 SMCO4 single-pass membrane protein with coiled-coil domains 4 gene DOID:630 genetic disease ISO RGD:1601987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095127 EFNB3 ephrin B3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1346330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12095127 EFNB3 ephrin B3 gene DOID:12177 common variable immunodeficiency ISO RGD:1346330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12095127 EFNB3 ephrin B3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1346330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12095127 EFNB3 ephrin B3 gene DOID:2729 dyskeratosis congenita ISO RGD:1346330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12095127 EFNB3 ephrin B3 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1346330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12095127 EFNB3 ephrin B3 gene DOID:480 movement disease ISO RGD:10509 D RGD:9068941 20220825 MouseDO 12095127 EFNB3 ephrin B3 gene DOID:630 genetic disease ISO RGD:1346330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095135 VAV2 vav guanine nucleotide exchange factor 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1314818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12095135 VAV2 vav guanine nucleotide exchange factor 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1314818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12095135 VAV2 vav guanine nucleotide exchange factor 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1314818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12095135 VAV2 vav guanine nucleotide exchange factor 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1314818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12095135 VAV2 vav guanine nucleotide exchange factor 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1314818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12095135 VAV2 vav guanine nucleotide exchange factor 2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1314818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12095135 VAV2 vav guanine nucleotide exchange factor 2 gene DOID:3652 Leigh disease ISO RGD:1314818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12095135 VAV2 vav guanine nucleotide exchange factor 2 gene DOID:630 genetic disease ISO RGD:1314818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095178 CCDC14 coiled-coil domain containing 14 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1348740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12095178 CCDC14 coiled-coil domain containing 14 gene DOID:630 genetic disease ISO RGD:1348740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095178 CCDC14 coiled-coil domain containing 14 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1348740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 12095178 CCDC14 coiled-coil domain containing 14 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1348740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12095178 CCDC14 coiled-coil domain containing 14 gene DOID:9270 alkaptonuria ISO RGD:1348740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12095197 AP1S2 adaptor related protein complex 1 subunit sigma 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12095197 AP1S2 adaptor related protein complex 1 subunit sigma 2 gene DOID:0060800 syndromic X-linked intellectual disability 5 ISO RGD:1348501 D RGD:7240710 20180130 OMIM 12095197 AP1S2 adaptor related protein complex 1 subunit sigma 2 gene DOID:0060800 syndromic X-linked intellectual disability 5 ISO RGD:1348501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pettigrew syndrome PMID:10398241|PMID:12599187|PMID:17186471|PMID:17617514|PMID:18414213|PMID:18428203|PMID:2018058|PMID:23756445|PMID:25741868|PMID:33847015|PMID:5054319 12095197 AP1S2 adaptor related protein complex 1 subunit sigma 2 gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1348501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 12095197 AP1S2 adaptor related protein complex 1 subunit sigma 2 gene DOID:12849 autistic disorder ISO RGD:1348501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12095197 AP1S2 adaptor related protein complex 1 subunit sigma 2 gene DOID:13636 Fanconi anemia ISO RGD:1348501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 12095197 AP1S2 adaptor related protein complex 1 subunit sigma 2 gene DOID:630 genetic disease ISO RGD:1348501 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12095197 AP1S2 adaptor related protein complex 1 subunit sigma 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12095197 AP1S2 adaptor related protein complex 1 subunit sigma 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12095224 IMMP2L inner mitochondrial membrane peptidase subunit 2 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1350569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27356265 12095224 IMMP2L inner mitochondrial membrane peptidase subunit 2 gene DOID:0111275 speech-language disorder-1 ISO RGD:1350569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood apraxia of speech PMID:25422445 12095224 IMMP2L inner mitochondrial membrane peptidase subunit 2 gene DOID:12849 autistic disorder ISO RGD:1350569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19401682 12095224 IMMP2L inner mitochondrial membrane peptidase subunit 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12095224 IMMP2L inner mitochondrial membrane peptidase subunit 2 gene DOID:5419 schizophrenia ISO RGD:1350569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12095224 IMMP2L inner mitochondrial membrane peptidase subunit 2 gene DOID:630 genetic disease ISO RGD:1350569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095241 RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:0050562 West syndrome ISO RGD:731635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile spasms PMID:32004447 12095241 RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:731635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile spasm PMID:32004447 12095241 RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:2843 long QT syndrome ISO RGD:731635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12095241 RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:630 genetic disease ISO RGD:731635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24768767|PMID:26615199 12095241 RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:9001503 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION ISO RGD:731635 D RGD:7240710 20220216 OMIM 12095241 RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:9001503 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION ISO RGD:731635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation PMID:25741868|PMID:32004447 12095241 RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:731635 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12095241 RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:731635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:32004447 12095288 FAM83G family with sequence similarity 83 member G gene DOID:0050777 Joubert syndrome ISO RGD:1606850 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12095288 FAM83G family with sequence similarity 83 member G gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1606850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12095288 FAM83G family with sequence similarity 83 member G gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1606850 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12095288 FAM83G family with sequence similarity 83 member G gene DOID:12849 autistic disorder ISO RGD:1606850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12095288 FAM83G family with sequence similarity 83 member G gene DOID:3390 palmoplantar keratosis IAGP D RGD:12801476 20211201 OMIA Hyperkeratosis, palmoplantar, FAM83G-related PMID:10701186|PMID:12828257|PMID:24832243|PMID:26747202|PMID:29963719|PMID:34796560 12095288 FAM83G family with sequence similarity 83 member G gene DOID:630 genetic disease ISO RGD:1606850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095288 FAM83G family with sequence similarity 83 member G gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1606850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 12095317 SAT2 spermidine/spermine N1-acetyltransferase family member 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1317312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12095317 SAT2 spermidine/spermine N1-acetyltransferase family member 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1317312 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12095317 SAT2 spermidine/spermine N1-acetyltransferase family member 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1317312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12095317 SAT2 spermidine/spermine N1-acetyltransferase family member 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1317312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12095317 SAT2 spermidine/spermine N1-acetyltransferase family member 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1317312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12095317 SAT2 spermidine/spermine N1-acetyltransferase family member 2 gene DOID:630 genetic disease ISO RGD:1317312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095327 COL6A2 collagen type VI alpha 2 chain gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:1313701 D RGD:7240710 20211215 OMIM 12095327 COL6A2 collagen type VI alpha 2 chain gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:1313701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1, autosomal dominant PMID:11381124|PMID:11506412|PMID:12218063|PMID:15563506|PMID:15689448|PMID:16075202|PMID:16199547|PMID:16935502|PMID:17886299|PMID:18366090|PMID:18414213|PMID:19309692|PMID:19344236|PMID:19564581|PMID:19884007|PMID:20106987|PMID:20576434|PMID:20729548|PMID:20976770|PMID:21280092|PMID:22075033|PMID:23040494|PMID:23757202|PMID:23940025|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24314752|PMID:24801232|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:30564623|PMID:32860008|PMID:33481221|PMID:34167565|PMID:7695699|PMID:8218237 12095327 COL6A2 collagen type VI alpha 2 chain gene DOID:0050663 Bethlem myopathy ISO RGD:1313701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: Muscular dystrophy, benign congenital PMID:12840783|PMID:15689448|PMID:16130093|PMID:16199547|PMID:16935502|PMID:17576681|PMID:17886299|PMID:18160674|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18825676|PMID:19309692|PMID:19564581|PMID:19884007|PMID:19949035|PMID:20576434|PMID:20729548|PMID:20976770|PMID:21280092|PMID:22992134|PMID:23040494|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24314752|PMID:24801232|PMID:25533456|PMID:25535305|PMID:25635128|PMID:25741868|PMID:26467025|PMID:26752647|PMID:27159402|PMID:27447704|PMID:27456059|PMID:27782108|PMID:27854218|PMID:28492532|PMID:28660205|PMID:29406609|PMID:29419890|PMID:30564623|PMID:31127727|PMID:34167565|PMID:9536098 12095327 COL6A2 collagen type VI alpha 2 chain gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1313701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12095327 COL6A2 collagen type VI alpha 2 chain gene DOID:0080600 COVID-19 ISO RGD:1313701 D RGD:9068941 20211217 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12095327 COL6A2 collagen type VI alpha 2 chain gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1313701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 12095327 COL6A2 collagen type VI alpha 2 chain gene DOID:0110266 cataract 9 multiple types ISO RGD:1313701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12095327 COL6A2 collagen type VI alpha 2 chain gene DOID:0111679 glutamate formiminotransferase deficiency ISO RGD:1313701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutamate formiminotransferase deficiency PMID:18414213|PMID:24801232|PMID:25741868|PMID:26467025|PMID:28492532 12095327 COL6A2 collagen type VI alpha 2 chain gene DOID:12849 autistic disorder ISO RGD:1313701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12095327 COL6A2 collagen type VI alpha 2 chain gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1313701 D RGD:9068941 20211217 RGD PMID:28302172|REF_RGD_ID:32716376 12095327 COL6A2 collagen type VI alpha 2 chain gene DOID:423 myopathy ISO RGD:1313701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy PMID:19884007|PMID:19949035|PMID:25741868|PMID:28492532|PMID:29419890|PMID:31127727|PMID:33481221 12095327 COL6A2 collagen type VI alpha 2 chain gene DOID:630 genetic disease ISO RGD:1313701 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15563506|PMID:15689448|PMID:17785673|PMID:17886299|PMID:19344236|PMID:20976770|PMID:24038877|PMID:24271325|PMID:25204870|PMID:25741868|PMID:27854218|PMID:28492532|PMID:30564623|PMID:34167565|PMID:7695699|PMID:8218237 12095327 COL6A2 collagen type VI alpha 2 chain gene DOID:8398 osteoarthritis ISO RGD:1313701 D RGD:9068941 20211217 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12095327 COL6A2 collagen type VI alpha 2 chain gene DOID:891 progressive myoclonus epilepsy ISO RGD:1313701 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12095327 COL6A2 collagen type VI alpha 2 chain gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1313701 D RGD:7240710 20211215 OMIM 12095327 COL6A2 collagen type VI alpha 2 chain gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1313701 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:11381124|PMID:11865138|PMID:12218063|PMID:12840783|PMID:15563506|PMID:15689448|PMID:16130093|PMID:16199547|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18160674|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18825676|PMID:18852439|PMID:19309692|PMID:19344236|PMID:19564581|PMID:19884007|PMID:19949035|PMID:20106987|PMID:20301676|PMID:20576434|PMID:20729548|PMID:20976770|PMID:21280092|PMID:21520333|PMID:22075033|PMID:22992134|PMID:23040494|PMID:23170014|PMID:23326386|PMID:23757202|PMID:23940025|PMID:24033266|PMID:24038877|PMID:24134684|PMID:24271325|PMID:24314752|PMID:24801232|PMID:25204870|PMID:25211533|PMID:25326637|PMID:25380242|PMID:25533456|PMID:25535305|PMID:25635128|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26752647|PMID:27159402|PMID:27363342|PMID:27447704|PMID:27453230|PMID:27456059|PMID:27782108|PMID:27854218|PMID:28492532|PMID:28600779|PMID:28660205|PMID:28688748|PMID:28831785|PMID:29172004|PMID:29406609|PMID:29419890|PMID:30564623|PMID:30755392|PMID:31066050|PMID:31127727|PMID:32053901|PMID:32065942|PMID:32403337|PMID:32528171|PMID:32860008|PMID:33146414|PMID:33250842|PMID:33481221|PMID:34167565|PMID:4793163|PMID:7695699|PMID:7785673|PMID:8218237|PMID:8782832|PMID:9334230|PMID:9536098 12095327 COL6A2 collagen type VI alpha 2 chain gene DOID:9001550 Bethlem Myopathy 1 susceptibility ISO RGD:1313701 D RGD:9068941 20211217 RGD Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human) PMID:8782832|REF_RGD_ID:1600934 12095327 COL6A2 collagen type VI alpha 2 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1305585 D RGD:9068941 20211217 RGD Protein:increased expression:liver PMID:7791542|REF_RGD_ID:1600938 12095327 COL6A2 collagen type VI alpha 2 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313701 D RGD:9068941 20211217 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12095327 COL6A2 collagen type VI alpha 2 chain gene DOID:9005532 Muscle Weakness ISO RGD:1313701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:19309692|PMID:20576434|PMID:21280092|PMID:24033266|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:30755392 12095327 COL6A2 collagen type VI alpha 2 chain gene DOID:9005560 Congenital Hip Dislocation ISO RGD:1313701 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital hip dislocation PMID:19309692|PMID:20576434|PMID:21280092|PMID:24033266|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532 12095327 COL6A2 collagen type VI alpha 2 chain gene DOID:9007114 Mobility Limitation ISO RGD:1313701 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:19309692|PMID:20576434|PMID:21280092|PMID:24033266|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532 12095327 COL6A2 collagen type VI alpha 2 chain gene DOID:9007626 Myosclerosis, Autosomal Recessive ISO RGD:1313701 D RGD:7240710 20211215 OMIM 12095327 COL6A2 collagen type VI alpha 2 chain gene DOID:9007626 Myosclerosis, Autosomal Recessive ISO RGD:1313701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL | ClinVar Annotator: match by term: Myosclerosis | ClinVar Annotator: match by term: Myosclerosis, autosomal recessive PMID:12840783|PMID:15689448|PMID:16130093|PMID:16935502|PMID:17576681|PMID:17886299|PMID:18378883|PMID:18414213|PMID:18852439|PMID:19309692|PMID:19564581|PMID:19949035|PMID:20301676|PMID:20576434|PMID:21280092|PMID:22992134|PMID:23040494|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24314752|PMID:24801232|PMID:25535305|PMID:25741868|PMID:26467025|PMID:26752647|PMID:27447704|PMID:27456059|PMID:27782108|PMID:27854218|PMID:28492532|PMID:31127727|PMID:34167565|PMID:4793163|PMID:9536098 12095327 COL6A2 collagen type VI alpha 2 chain gene DOID:9007913 Collagen VI-related Myopathy ISO RGD:1313701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:12840783|PMID:15689448|PMID:16130093|PMID:16199547|PMID:16935502|PMID:17576681|PMID:17886299|PMID:18160674|PMID:18378883|PMID:18414213|PMID:18825676|PMID:19309692|PMID:19564581|PMID:19884007|PMID:19949035|PMID:20301676|PMID:20576434|PMID:20729548|PMID:20976770|PMID:21280092|PMID:22992134|PMID:23040494|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24314752|PMID:24801232|PMID:25533456|PMID:25535305|PMID:25635128|PMID:25741868|PMID:26467025|PMID:26752647|PMID:27159402|PMID:27447704|PMID:27456059|PMID:27782108|PMID:27854218|PMID:28492532|PMID:28660205|PMID:29419890|PMID:30564623|PMID:31127727|PMID:34167565|PMID:9536098 12095327 COL6A2 collagen type VI alpha 2 chain gene DOID:9263 homocystinuria ISO RGD:1313701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12095327 COL6A2 collagen type VI alpha 2 chain gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12095327 COL6A2 collagen type VI alpha 2 chain gene DOID:9884 muscular dystrophy ISO RGD:1313701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:25535305|PMID:25741868 12095375 TEX46 testis expressed 46 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:7256452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12095394 OR11G2 olfactory receptor family 11 subfamily G member 2 gene DOID:630 genetic disease ISO RGD:1354303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095398 LOC483954 serpin B4 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1351173 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12095398 LOC483954 serpin B4 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1351173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 12095398 LOC483954 serpin B4 gene DOID:10283 prostate cancer ISO RGD:1351173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12095398 LOC483954 serpin B4 gene DOID:2773 contact dermatitis ISO RGD:1351173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12095398 LOC483954 serpin B4 gene DOID:630 genetic disease ISO RGD:1351173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095398 LOC483954 serpin B4 gene DOID:9003281 Spontaneous Abortions ISO RGD:1351173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12095410 DMTN dematin actin binding protein gene DOID:630 genetic disease ISO RGD:1322873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095410 DMTN dematin actin binding protein gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1322873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12095446 PDPN podoplanin gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606573 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12095446 PDPN podoplanin gene DOID:11394 adult respiratory distress syndrome ISO RGD:61819 D RGD:9068941 20200609 RGD PMID:11790662|REF_RGD_ID:2292244 12095446 PDPN podoplanin gene DOID:12215 oligohydramnios ISO RGD:61819 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:11839536|REF_RGD_ID:2292243 12095446 PDPN podoplanin gene DOID:1790 malignant mesothelioma ISO RGD:1606573 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 12095446 PDPN podoplanin gene DOID:2527 nephrosis ISO RGD:61819 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:glomerulus PMID:9327748|REF_RGD_ID:632934 12095446 PDPN podoplanin gene DOID:3068 glioblastoma ISO RGD:1606573 D RGD:9068941 20200609 RGD PMID:16979138|REF_RGD_ID:2292241 12095446 PDPN podoplanin gene DOID:3304 germinoma ISO RGD:1606573 D RGD:9068941 20200609 RGD PMID:16718353|REF_RGD_ID:2292236 12095446 PDPN podoplanin gene DOID:3744 cervical squamous cell carcinoma disease_progression ISO RGD:1606573 D RGD:9068941 20200609 RGD PMID:16528371|REF_RGD_ID:2292237 12095446 PDPN podoplanin gene DOID:4440 seminoma ISO RGD:1606573 D RGD:9068941 20200609 RGD PMID:17951198|REF_RGD_ID:2292234 12095446 PDPN podoplanin gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1606573 D RGD:9068941 20200609 RGD PMID:18291512|REF_RGD_ID:2292239 12095446 PDPN podoplanin gene DOID:630 genetic disease ISO RGD:1606573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095446 PDPN podoplanin gene DOID:8719 in situ carcinoma ISO RGD:1606573 D RGD:9068941 20200609 RGD mRNA:increased expression:testis PMID:16736189|REF_RGD_ID:2292235 12095446 PDPN podoplanin gene DOID:874 bacterial pneumonia ISO RGD:61819 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:7864138|REF_RGD_ID:2292375 12095446 PDPN podoplanin gene DOID:9000081 Lymphatic Metastasis ISO RGD:1606573 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:18165897|REF_RGD_ID:2292231 12095446 PDPN podoplanin gene DOID:9000081 Lymphatic Metastasis ISO RGD:1606573 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms PMID:16528371|REF_RGD_ID:2292237 12095446 PDPN podoplanin gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1606573 D RGD:9068941 20200609 RGD mRNA:increased expression:testis PMID:16736189|REF_RGD_ID:2292235 12095446 PDPN podoplanin gene DOID:9001542 Albuminuria ISO RGD:61819 D RGD:9068941 20200609 RGD PMID:18199599|REF_RGD_ID:2292240 12095446 PDPN podoplanin gene DOID:9001834 Peritoneal Neoplasms ISO RGD:1606573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 12095446 PDPN podoplanin gene DOID:9005372 Inflammation ISO RGD:61819 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:15849211|REF_RGD_ID:2292242 12095446 PDPN podoplanin gene DOID:9007480 Hyperoxia ISO RGD:61819 D RGD:9068941 20200609 RGD protein:increased tyrosine nitration:lung PMID:12922978|REF_RGD_ID:1302251 12095456 GNL2 G protein nucleolar 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1343978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12095456 GNL2 G protein nucleolar 2 gene DOID:630 genetic disease ISO RGD:1343978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095476 COPS8 COP9 signalosome subunit 8 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1322849 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12095476 COPS8 COP9 signalosome subunit 8 gene DOID:1059 intellectual disability ISO RGD:1322849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12095476 COPS8 COP9 signalosome subunit 8 gene DOID:630 genetic disease ISO RGD:1322849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095476 COPS8 COP9 signalosome subunit 8 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1322849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:0050456 Buruli ulcer disease ISO RGD:736532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Buruli ulcer, susceptibility to PMID:16395392 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:0050456 Buruli ulcer disease susceptibility ISO RGD:736532 D RGD:7240710 20190502 OMIM 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:point mutation:promoter:-237C>T (human) PMID:16059695|REF_RGD_ID:5684952 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphisms: :1730G>A (human) PMID:21128323|REF_RGD_ID:5684929 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:0060180 colitis ISO RGD:736533 D RGD:9068941 20200609 RGD PMID:19016783|REF_RGD_ID:5684975 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:0060704 lymphoproliferative syndrome ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:deletion:3' utr:*55_*58delTGTG (human) PMID:16734634|REF_RGD_ID:5684949 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:736532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:0080176 meningococcal meningitis ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:736532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:736532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:1024 leprosy ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:1024 leprosy ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype (human) PMID:10608779|REF_RGD_ID:5684972 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:1024 leprosy susceptibility ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:repeat:promoter (human) PMID:15755200|REF_RGD_ID:5684957 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:repeat, polymorphism:promoter, cds:p.D543N (human) PMID:16516037|REF_RGD_ID:5684951 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:11335 sarcoidosis ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:11335 sarcoidosis ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:repeat, SNP:promoter, intron (human) PMID:22160516|REF_RGD_ID:5684925 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:13241 Behcet's disease ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:18998137|REF_RGD_ID:5684936 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:13622 campylobacteriosis ISO RGD:736533 D RGD:9068941 20200609 RGD PMID:18656410|REF_RGD_ID:5684976 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:2377 multiple sclerosis ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:2377 multiple sclerosis ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:repeat:promoter (human) PMID:18973068|REF_RGD_ID:5684937 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:2377 multiple sclerosis no_association ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:repeat, polymorphism, deletions:promoter, cds:p.D543N (human) PMID:15584484|REF_RGD_ID:5684960 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:2841 asthma ISO RGD:736533 D RGD:9068941 20200609 RGD PMID:12847242|REF_RGD_ID:5684966 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:21169917|REF_RGD_ID:5684974 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:736532 D RGD:9068941 20200716 RGD DNA:deletion:3'UTR: PMID:24024195|REF_RGD_ID:36049753 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:3021 acute kidney failure ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:3044 food allergy ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:3310 atopic dermatitis ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:399 tuberculosis ISO RGD:736532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to infection by PMID:16103355|PMID:25741868 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:399 tuberculosis susceptibility ISO RGD:736532 D RGD:7240710 20190502 OMIM 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:418 systemic scleroderma ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:repeat, polymorphism:promoter, intron: (human) PMID:17876529|REF_RGD_ID:5684940 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:736532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:630 genetic disease ISO RGD:736532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:repeat:promoter (human) PMID:10857800|REF_RGD_ID:5684977 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:7148 rheumatoid arthritis ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:7148 rheumatoid arthritis ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphisms, deletion: :823C>T, p.D543N (human) PMID:10719815|REF_RGD_ID:5684971 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:7148 rheumatoid arthritis severity ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter (human) PMID:12135431|REF_RGD_ID:5684967 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:8577 ulcerative colitis ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16059695 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:8577 ulcerative colitis ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter (human) PMID:11929588|REF_RGD_ID:5684968 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:8577 ulcerative colitis ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:transition, repeat:promoter:-237C>T (human) PMID:18340647|REF_RGD_ID:5684939 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16059695 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:insertion/deletion:3' utr (human) PMID:18340647|REF_RGD_ID:5684939 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:point mutation:promoter:-237C>T (human) PMID:16059695|REF_RGD_ID:5684952 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphism: :823C>T (human) PMID:17131479|REF_RGD_ID:5684942 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter (human) PMID:11929588|REF_RGD_ID:5684968 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:repeat, polymorphisms:promoter, intron:p.D543N (human) PMID:18454481|REF_RGD_ID:5684938 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease no_association ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter (human) PMID:15757519|REF_RGD_ID:5684956 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease no_association ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter (human) PMID:17385031|REF_RGD_ID:5684941 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:9000099 Experimental Colitis ISO RGD:736533 D RGD:9068941 20200609 RGD PMID:19116231|REF_RGD_ID:5684934 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:9001415 Mycobacterium Infections ISO RGD:736533 D RGD:9068941 20200609 RGD DNA:point mutation (mouse) PMID:11821237|REF_RGD_ID:5684969 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:9002457 Experimental Arthritis severity ISO RGD:736533 D RGD:9068941 20200609 RGD PMID:17122779|REF_RGD_ID:5684943 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:promoter (human) PMID:14960532|REF_RGD_ID:5684961 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:9005099 Salmonella Infections, Animal ISO RGD:736533 D RGD:9068941 20200609 RGD PMID:14734525|REF_RGD_ID:5684962 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:9005372 Inflammation ISO RGD:736533 D RGD:9068941 20200609 RGD PMID:17035062|REF_RGD_ID:5684948 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:9005723 Multibacillary Leprosy ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:insertion/deletion:3' utr (human) PMID:11791966|REF_RGD_ID:5684970 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:deletion:3' utr: (human) PMID:21233146|REF_RGD_ID:5684928 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:9111 cutaneous leishmaniasis ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:insertion/deletion (human) PMID:20089160|REF_RGD_ID:5684930 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:9146 visceral leishmaniasis ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:9146 visceral leishmaniasis ISO RGD:736532 D RGD:9068941 20200609 RGD PMID:17067929|REF_RGD_ID:5684944 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs3731865 (human) PMID:21524304|REF_RGD_ID:5684926 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphism: :274C>T (human) PMID:19768110|REF_RGD_ID:5684932 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736533 D RGD:9068941 20200609 RGD PMID:16550170|REF_RGD_ID:5684950 12095488 SLC11A1 solute carrier family 11 member 1 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:repeat:promoter (human) PMID:15877293|REF_RGD_ID:5684955 12095504 PRDX6 peroxiredoxin 6 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1602898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12095504 PRDX6 peroxiredoxin 6 gene DOID:14250 Down syndrome ISO RGD:1602898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11771762 12095504 PRDX6 peroxiredoxin 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1602898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12095504 PRDX6 peroxiredoxin 6 gene DOID:2349 arteriosclerosis ISO RGD:736132 D RGD:9068941 20200609 RGD PMID:15488866|REF_RGD_ID:1580711 12095504 PRDX6 peroxiredoxin 6 gene DOID:2773 contact dermatitis ISO RGD:1602898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12095504 PRDX6 peroxiredoxin 6 gene DOID:3755 antithrombin III deficiency ISO RGD:1602898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 12095504 PRDX6 peroxiredoxin 6 gene DOID:630 genetic disease ISO RGD:1602898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095504 PRDX6 peroxiredoxin 6 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1602898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 12095504 PRDX6 peroxiredoxin 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1602898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12095504 PRDX6 peroxiredoxin 6 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1602898 D RGD:9068941 20200609 RGD protein:decreased expression:placenta PMID:25171874|REF_RGD_ID:26884462 12095504 PRDX6 peroxiredoxin 6 gene DOID:9002231 Fetal Growth Retardation ISO RGD:71005 D RGD:9068941 20200609 RGD protein:decreased expression:placenta PMID:25171874|REF_RGD_ID:26884462 12095504 PRDX6 peroxiredoxin 6 gene DOID:9004009 Reperfusion Injury ISO RGD:736132 D RGD:9068941 20200609 RGD PMID:16766642|REF_RGD_ID:1580710 12095504 PRDX6 peroxiredoxin 6 gene DOID:9005172 Lung Neoplasms ISO RGD:1602898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23692979 12095504 PRDX6 peroxiredoxin 6 gene DOID:9007102 Myocardial Ischemia ISO RGD:1602898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12095504 PRDX6 peroxiredoxin 6 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1602898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 12095504 PRDX6 peroxiredoxin 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12095513 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:0050700 cardiomyopathy ISO RGD:1314398 D RGD:9068941 20230128 RGD mRNA:increased expression:heart PMID:18658259|REF_RGD_ID:155882484 12095513 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1314398 D RGD:9068941 20200609 RGD PMID:15705784|REF_RGD_ID:1580640 12095513 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:0080169 tricuspid atresia ISO RGD:1550372 D RGD:9068941 20220825 MouseDO OMIM:605067 12095513 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:0080169 tricuspid atresia ISO RGD:1550372 D RGD:9068941 20230128 RGD PMID:10888889|REF_RGD_ID:155882483 12095513 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:0111590 Cohen syndrome ISO RGD:1314398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12095513 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:0111770 46,XY sex reversal 9 ISO RGD:1314398 D RGD:7240710 20180130 OMIM 12095513 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:0111770 46,XY sex reversal 9 ISO RGD:1314398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 9 PMID:14517948|PMID:17568391|PMID:20807224|PMID:21919901|PMID:24033266|PMID:24549039|PMID:24702427|PMID:25107291|PMID:25741868|PMID:28166811|PMID:28492532|PMID:34008892 12095513 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:0111772 46,XY sex reversal 3 ISO RGD:1314398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 3 PMID:14517948|PMID:17568391|PMID:20807224|PMID:21919901|PMID:24033266|PMID:24549039|PMID:24702427|PMID:25741868|PMID:28492532 12095513 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1550372 D RGD:9068941 20230128 RGD PMID:25196150|REF_RGD_ID:155882481 12095513 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1550372 D RGD:9068941 20230128 RGD protein:increased expression:heart: PMID:18658259|REF_RGD_ID:155882484 12095513 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:1657 ventricular septal defect ISO RGD:1550372 D RGD:9068941 20230128 RGD PMID:25196150|REF_RGD_ID:155882481 12095513 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:1882 atrial heart septal defect ISO RGD:1550372 D RGD:9068941 20230128 RGD PMID:25196150|REF_RGD_ID:155882481 12095513 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1550372 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 12095513 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:6000 congestive heart failure exacerbates ISO RGD:1550372 D RGD:9068941 20230128 RGD PMID:18658259|REF_RGD_ID:155882484 12095513 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:630 genetic disease ISO RGD:1314398 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28492532 12095513 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:6406 double outlet right ventricle ISO RGD:1314398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Double outlet right ventricle PMID:14517948|PMID:17568391|PMID:20807224|PMID:21919901|PMID:24702427|PMID:25741868|PMID:28492532 12095513 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:6419 tetralogy of Fallot ISO RGD:1314398 D RGD:7240710 20180130 OMIM 12095513 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:6419 tetralogy of Fallot ISO RGD:1314398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:14517948|PMID:20807224|PMID:24033266|PMID:24549039|PMID:24702427|PMID:25741868|PMID:28492532 12095513 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:9000460 Diaphragmatic Hernia 3 ISO RGD:1314398 D RGD:7240710 20180130 OMIM 12095513 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:9000460 Diaphragmatic Hernia 3 ISO RGD:1314398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diaphragmatic hernia 3 PMID:14517948|PMID:16103912|PMID:17568391|PMID:20807224|PMID:21919901|PMID:24702427|PMID:25741868|PMID:28492532 12095513 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:9003505 Venous Thromboembolism susceptibility ISO RGD:1314398 D RGD:9068941 20230128 RGD DNA:SNP: :rs4602861(human) PMID:28373160|REF_RGD_ID:155882487 12095513 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:9008539 Perinatal Death ISO RGD:1550372 D RGD:9068941 20230128 RGD PMID:25196150|REF_RGD_ID:155882481 12095513 ZFPM2 zinc finger protein, FOG family member 2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:1314398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17436238 12095528 DEPTOR DEP domain containing MTOR interacting protein gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1344261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12095528 DEPTOR DEP domain containing MTOR interacting protein gene DOID:630 genetic disease ISO RGD:1344261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095542 RECQL5 RecQ like helicase 5 gene DOID:2661 myoepithelioma ISO RGD:1321946 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12095542 RECQL5 RecQ like helicase 5 gene DOID:630 genetic disease ISO RGD:1321946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095566 CBX2 chromobox 2 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1342823 D RGD:9068941 20200609 RGD PMID:24885002|REF_RGD_ID:9586732 12095566 CBX2 chromobox 2 gene DOID:0111776 46,XY sex reversal 5 ISO RGD:1342823 D RGD:7240710 20180130 OMIM 12095566 CBX2 chromobox 2 gene DOID:0111776 46,XY sex reversal 5 ISO RGD:1342823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 5 PMID:19361780|PMID:25741868 12095566 CBX2 chromobox 2 gene DOID:14447 gonadal dysgenesis no_association ISO RGD:1342823 D RGD:9068941 20200609 RGD PMID:23219007|REF_RGD_ID:9586730 12095566 CBX2 chromobox 2 gene DOID:1923 disorder of sexual development ISO RGD:1342823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 12095566 CBX2 chromobox 2 gene DOID:630 genetic disease ISO RGD:1342823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12095566 CBX2 chromobox 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1342823 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 12095566 CBX2 chromobox 2 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1342823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 12095574 DIDO1 death inducer-obliterator 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1322490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12095574 DIDO1 death inducer-obliterator 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1322490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12095574 DIDO1 death inducer-obliterator 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1322490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12095574 DIDO1 death inducer-obliterator 1 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1322490 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12095574 DIDO1 death inducer-obliterator 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1322490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12095574 DIDO1 death inducer-obliterator 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1322490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12095574 DIDO1 death inducer-obliterator 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1322490 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30431698 12095574 DIDO1 death inducer-obliterator 1 gene DOID:4972 myelodysplastic/myeloproliferative neoplasm ISO RGD:30309588 D RGD:9068941 20220825 MouseDO 12095574 DIDO1 death inducer-obliterator 1 gene DOID:630 genetic disease ISO RGD:1322490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095604 ATE1 arginyltransferase 1 gene DOID:2340 craniosynostosis ISO RGD:1319626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 12095604 ATE1 arginyltransferase 1 gene DOID:630 genetic disease ISO RGD:1319626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1314945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Regional enteritis PMID:11385576|PMID:11385577|PMID:11425413|PMID:11910337|PMID:12019468|PMID:12512038|PMID:12650796|PMID:12673278|PMID:12704363|PMID:15002819|PMID:15024686|PMID:15190267|PMID:15198989|PMID:15571588|PMID:16010583|PMID:16416181|PMID:16669960|PMID:17301648|PMID:17489054|PMID:18240302|PMID:18489434|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20047977|PMID:20332463|PMID:20713205|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22939045|PMID:23128233|PMID:23173613|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24047397|PMID:24345423|PMID:24586700|PMID:24597572|PMID:25365249|PMID:25741868|PMID:26042516|PMID:26167078|PMID:26500656|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:32597225|PMID:32716958 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome ISO RGD:1314945 D RGD:7240710 20180130 OMIM 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome ISO RGD:1314945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: Jabs syndrome PMID:11385576|PMID:11385577|PMID:11425413|PMID:11528384|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12115249|PMID:12202985|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12630966|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14508222|PMID:14522785|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15086578|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15459013|PMID:15554080|PMID:15571588|PMID:15712650|PMID:15770725|PMID:15812565|PMID:15967635|PMID:15998797|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:16804397|PMID:17009307|PMID:17069729|PMID:17157607|PMID:17207093|PMID:17301648|PMID:17372104|PMID:17393391|PMID:17489054|PMID:17576681|PMID:17916199|PMID:17941079|PMID:17968944|PMID:18056399|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18718560|PMID:18942754|PMID:18955195|PMID:19103559|PMID:19116920|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19479836|PMID:19479837|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20039400|PMID:20047977|PMID:20084402|PMID:20199415|PMID:20230816|PMID:20332463|PMID:20565245|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22377804|PMID:22440928|PMID:22509093|PMID:22543157|PMID:22684479|PMID:22859352|PMID:22926499|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23334666|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24595243|PMID:24597572|PMID:24713464|PMID:24803813|PMID:24876985|PMID:25093298|PMID:25136265|PMID:25209167|PMID:25365249|PMID:25416713|PMID:25429073|PMID:25619344|PMID:25741868|PMID:25829188|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:26606664|PMID:26768519|PMID:26774591|PMID:27306066|PMID:27339507|PMID:27373512|PMID:27419275|PMID:27625029|PMID:28008999|PMID:28130683|PMID:28166811|PMID:28422189|PMID:28492532|PMID:28639104|PMID:28658209|PMID:28721627|PMID:28750667|PMID:28814775|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29697845|PMID:29795570|PMID:29867916|PMID:30159790|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:30574935|PMID:30693132|PMID:30783801|PMID:32597225|PMID:32647028|PMID:32707200|PMID:32716958|PMID:33692434|PMID:34251956|PMID:7825454|PMID:9124059|PMID:9536098 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E383G (human) PMID:19116920|REF_RGD_ID:8158051 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E383K (human) PMID:15812565|REF_RGD_ID:8547515 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human) PMID:11528384|REF_RGD_ID:8158040 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human) PMID:19479837|REF_RGD_ID:8547518 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1314945 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs3135499) C>A (human) PMID:27354594|REF_RGD_ID:152177496 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0050922 gastrointestinal carcinoma ISO RGD:1314945 D RGD:9068941 20200609 RGD associated with Helicobacter Infections;DNA:SNP: :c.802C>T (human) PMID:20230816|REF_RGD_ID:5508759 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0060180 colitis ISO RGD:1306368 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:16891783|REF_RGD_ID:1600781 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0060180 colitis ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:20921147|PMID:21471573|REF_RGD_ID:5508727|REF_RGD_ID:5508755 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0080176 meningococcal meningitis susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :SNP8(human) PMID:23691182|REF_RGD_ID:7800668 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0081267 graft-versus-host disease severity ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:snps, insertion:exons:p.R675W, p.G1881R, c.2936_2937insC (human) PMID:15090455|REF_RGD_ID:8158050 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0110892 inflammatory bowel disease 1 ISO RGD:1314945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:11385576|PMID:11385577|PMID:11425413|PMID:11528384|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12115249|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12630966|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14508222|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15459013|PMID:15571588|PMID:15712650|PMID:15770725|PMID:15967635|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:16804397|PMID:17301648|PMID:17489054|PMID:18056399|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20047977|PMID:20230816|PMID:20332463|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22926499|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24597572|PMID:24803813|PMID:25365249|PMID:25741868|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:28814775|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:32597225|PMID:32716958 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:0111122 nephronophthisis 14 ISO RGD:1314945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:1024 leprosy ISO RGD:1314945 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:104 bacterial infectious disease ISO RGD:1314946 D RGD:9068941 20200609 RGD associated with Virus Diseases PMID:21669398|REF_RGD_ID:5508748 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:10457 Legionnaires' disease ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:20685341|REF_RGD_ID:5131443 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:11729 Lyme disease ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:21387014|REF_RGD_ID:5508754 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:12583 velocardiofacial syndrome ISO RGD:1314945 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:13141 uveitis ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:21296813|REF_RGD_ID:5508729 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:1324 lung cancer susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:insertion: : 3020_3021insC (human) PMID:16267612|REF_RGD_ID:5131514 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:13241 Behcet's disease ISO RGD:1314945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Behcet disease PMID:28492532 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:13241 Behcet's disease no_association ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human) PMID:15515785|REF_RGD_ID:13204711 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:13241 Behcet's disease susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:snp, insertion:exons:p.R702W, p.L1007insC (human) PMID:19748964|REF_RGD_ID:8158059 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:13406 pulmonary sarcoidosis disease_progression ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:2104C>T (human) PMID:19679608|REF_RGD_ID:4892066 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:1612 breast cancer susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:insertion: : 3020_3021insC (human) PMID:16267612|REF_RGD_ID:5131514 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:1936 atherosclerosis ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:24324141|REF_RGD_ID:8158039 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:224 transient cerebral ischemia ISO RGD:1314946 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:20863826|REF_RGD_ID:5508733 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:2280 hidradenitis suppurativa ISO RGD:1314945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:2378 relapsing-remitting multiple sclerosis disease_progression ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:SNPs: :rs3135499,rs2066842(human) PMID:20595247|REF_RGD_ID:13204725 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:2394 ovarian cancer ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:insertion:Cds: 3020_3021insC (human) PMID:20223031|REF_RGD_ID:5131515 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:2596 larynx cancer onset ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:insertion:Cds: 3020_3021insC (human) PMID:20223031|REF_RGD_ID:5131515 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:2723 dermatitis ISO RGD:1314945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19467619 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:2799 bronchiolitis obliterans ISO RGD:1314945 D RGD:9068941 20200609 RGD PMID:18158963|REF_RGD_ID:5131450 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:2841 asthma ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:21051079|REF_RGD_ID:5508757 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:2841 asthma susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:polymorphisms:intron, exon/3'UTR (rs1077861, rs3135500) (human) PMID:16008671|REF_RGD_ID:5131477 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1314945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:11385576|PMID:11385577|PMID:11425413|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12115249|PMID:12202985|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14508222|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15571588|PMID:15712650|PMID:15770725|PMID:15967635|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:17301648|PMID:17489054|PMID:17576681|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20047977|PMID:20230816|PMID:20332463|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22859352|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24597572|PMID:24803813|PMID:25093298|PMID:25209167|PMID:25365249|PMID:25416713|PMID:25741868|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:26774591|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28166811|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:28814775|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30159790|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:32597225|PMID:32716958|PMID:9536098 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:SNPs:CDs:p.P268S, R702W, A725G (human) PMID:18419343|REF_RGD_ID:5131510 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:2987 familial Mediterranean fever severity ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human) PMID:22244368|REF_RGD_ID:13204709 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs1077861) (human) PMID:21943069|REF_RGD_ID:5508720 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:3393 coronary artery disease ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.G908R, 3020_3021insC (human) PMID:21565239|REF_RGD_ID:5508725 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1306368 D RGD:9068941 20200609 RGD PMID:24842554|REF_RGD_ID:13204729 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:4029 gastritis ISO RGD:1314945 D RGD:9068941 20200609 RGD associated with Helicobacter Infections;DNA:SNP: :c.802C>T (human) PMID:20230816|REF_RGD_ID:5508759 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:417 autoimmune disease ISO RGD:1314945 D RGD:9068941 20200609 RGD associated with Common Variable Immunodeficiency;DNA:missense mutation: :p.G908R (human) PMID:20646002|REF_RGD_ID:5508739 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:4481 allergic rhinitis ISO RGD:1314945 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal mucosa (human) PMID:23858718|REF_RGD_ID:8547523 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:4483 rhinitis susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:2104C>T,2722G>C (human) PMID:12704363|REF_RGD_ID:5131484 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:4989 pancreatitis ISO RGD:1306368 D RGD:9068941 20200609 RGD protein, mRNA:decreased expression:pancreas, blood cells PMID:20442679|REF_RGD_ID:5131438 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:5295 intestinal disease ISO RGD:1314945 D RGD:9068941 20200609 RGD associated with Common Variable Immunodeficiency;DNA:missense mutation: :p.G908R (human) PMID:20646002|REF_RGD_ID:5508739 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:630 genetic disease ISO RGD:1314945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:19479836|PMID:25741868|PMID:28492532 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:6543 acne ISO RGD:1314945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:8553 pyoderma gangrenosum ISO RGD:1314945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:8577 ulcerative colitis ISO RGD:1314945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20452301 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:20580721|REF_RGD_ID:8547529 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:874 bacterial pneumonia ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:19360122|REF_RGD_ID:5131449 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:8778 Crohn's disease ISO RGD:1314945 D RGD:7240710 20180523 OMIM 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:8778 Crohn's disease ISO RGD:1314945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Crohn disease | ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:11385576|PMID:11385577|PMID:11425413|PMID:11528384|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12115249|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12630966|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14508222|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15459013|PMID:15571588|PMID:15712650|PMID:15770725|PMID:15967635|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:16804397|PMID:17301648|PMID:17489054|PMID:18056399|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20047977|PMID:20230816|PMID:20332463|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22926499|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23334666|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24597572|PMID:24803813|PMID:25365249|PMID:25741868|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:28814775|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:32597225|PMID:32716958 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:8778 Crohn's disease no_association ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:missense mutations, frameshift mutation: :p.R702W, p.G908R, 3020_3021insC (human) PMID:21155887|REF_RGD_ID:5508730 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:8778 Crohn's disease susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:frameshift mutation, missense mutations PMID:11385576|REF_RGD_ID:1600778 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9000099 Experimental Colitis ISO RGD:1306368 D RGD:9068941 20200609 RGD protein:increased expression:colonic mucosa: PMID:22997830|REF_RGD_ID:13204727 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:1314946 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:25443778|REF_RGD_ID:9831197 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9000156 Metaplasia ISO RGD:1314945 D RGD:9068941 20200609 RGD associated with Helicobacter Infections;DNA:SNP: :c.802C>T (human) PMID:20230816|REF_RGD_ID:5508759 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:20493961|REF_RGD_ID:5131444 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9002019 Granuloma ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:20679225|REF_RGD_ID:5508736 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9002457 Experimental Arthritis ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:20131263|PMID:21424514|REF_RGD_ID:5508728|REF_RGD_ID:8552884 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9002720 Splenomegaly susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD associated with Common Variable Immunodeficiency;DNA:missense mutation:cds:p.R702W (rs2066844) (human) PMID:20646002|REF_RGD_ID:5508739 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:insertion:Cds: 3020_3021insC (human) PMID:20223031|REF_RGD_ID:5131515 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9004009 Reperfusion Injury ISO RGD:1306368 D RGD:9068941 20200609 RGD protein:increased expression:small intestine PMID:20107953|REF_RGD_ID:5131440 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9004484 Sepsis ISO RGD:1306368 D RGD:9068941 20200609 RGD mRNA:increased expression:intestine mucosa (rat) PMID:24059417|REF_RGD_ID:8547531 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9004484 Sepsis susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:missense mutations, frameshift mutation:cds:p.R702W, p.G908R, 3020_3021insC (human) PMID:21460759|REF_RGD_ID:5508752 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9004527 YAO SYNDROME ISO RGD:1314945 D RGD:7240710 20210127 OMIM 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9004527 YAO SYNDROME ISO RGD:1314945 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Yao syndrome PMID:11385576|PMID:11385577|PMID:11425413|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15190267|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:16010583|PMID:16416181|PMID:16669960|PMID:17301648|PMID:17489054|PMID:18240302|PMID:18489434|PMID:18541930|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20047977|PMID:20332463|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22939045|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24586700|PMID:24597572|PMID:25365249|PMID:25741868|PMID:26042516|PMID:26070941|PMID:26167078|PMID:26500656|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:32597225|PMID:32716958 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1306368 D RGD:9068941 20200609 RGD associated with Sepsis PMID:22575870|REF_RGD_ID:8547530 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9004945 Ocular Toxoplasmosis susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:snp:3' utr:g.*397A>C (rs3135499)(human) PMID:23100559|REF_RGD_ID:8547527 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9005036 Bacteremia severity ISO RGD:1314945 D RGD:9068941 20200609 RGD associated with Staphylococcal Infections; PMID:24086711|REF_RGD_ID:13204726 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9007906 PFAPA Syndrome ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:mutations:cds PMID:21914217|REF_RGD_ID:13204855 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9008103 Seasonal Allergic Rhinitis susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:polymorphisms:5'UTR/exon, exon:rs5743266, rs2066842 (human) PMID:16008671|REF_RGD_ID:5131477 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:1314945 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:21886831|REF_RGD_ID:5508746 12095632 NOD2 nucleotide binding oligomerization domain containing 2 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.G908R (rs2066845)(human) PMID:16642031|REF_RGD_ID:13204710 12095654 PPP1R8 protein phosphatase 1 regulatory subunit 8 gene DOID:630 genetic disease ISO RGD:1314810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095669 IFNGR2 interferon gamma receptor 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12095669 IFNGR2 interferon gamma receptor 2 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1316782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12095669 IFNGR2 interferon gamma receptor 2 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12095669 IFNGR2 interferon gamma receptor 2 gene DOID:0080600 COVID-19 ISO RGD:1316782 D RGD:9068941 20210122 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12095669 IFNGR2 interferon gamma receptor 2 gene DOID:0111955 immunodeficiency 27A ISO RGD:1316782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 12095669 IFNGR2 interferon gamma receptor 2 gene DOID:0111995 immunodeficiency 28 ISO RGD:1316782 D RGD:7240710 20210114 OMIM 12095669 IFNGR2 interferon gamma receptor 2 gene DOID:0111995 immunodeficiency 28 ISO RGD:1316782 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 28 PMID:15924140|PMID:16690980|PMID:16885196|PMID:17576681|PMID:18625743|PMID:23161749|PMID:24033266|PMID:25135595|PMID:25741868|PMID:27522156|PMID:28492532|PMID:29106381|PMID:30814731|PMID:31222290|PMID:9536098 12095669 IFNGR2 interferon gamma receptor 2 gene DOID:630 genetic disease ISO RGD:1316782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12095669 IFNGR2 interferon gamma receptor 2 gene DOID:9004697 Interferon Gamma, Receptor 1, Deficiency ISO RGD:1316782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interferon gamma receptor deficiency PMID:16690980|PMID:16885196|PMID:28492532 12095669 IFNGR2 interferon gamma receptor 2 gene DOID:9005698 ZTTK Syndrome ISO RGD:1316782 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 12095669 IFNGR2 interferon gamma receptor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1316783 D RGD:9068941 20220825 MouseDO OMIM:222100 12095686 HELQ helicase, POLQ like gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1605893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 12095686 HELQ helicase, POLQ like gene DOID:630 genetic disease ISO RGD:1605893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095718 VWA5B2 von Willebrand factor A domain containing 5B2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:2300034 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12095718 VWA5B2 von Willebrand factor A domain containing 5B2 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:2300034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12095718 VWA5B2 von Willebrand factor A domain containing 5B2 gene DOID:0111546 Currarino syndrome ISO RGD:2300034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12095718 VWA5B2 von Willebrand factor A domain containing 5B2 gene DOID:630 genetic disease ISO RGD:2300034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095753 OR8B4 olfactory receptor family 8 subfamily B member 4 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1342821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12095753 OR8B4 olfactory receptor family 8 subfamily B member 4 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1342821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12095753 OR8B4 olfactory receptor family 8 subfamily B member 4 gene DOID:5419 schizophrenia ISO RGD:1342821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12095753 OR8B4 olfactory receptor family 8 subfamily B member 4 gene DOID:630 genetic disease ISO RGD:1342821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095753 OR8B4 olfactory receptor family 8 subfamily B member 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1342821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12095753 OR8B4 olfactory receptor family 8 subfamily B member 4 gene DOID:9007661 Dwarfism ISO RGD:1342821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12095757 GREM2 gremlin 2, DAN family BMP antagonist gene DOID:1540 parathyroid carcinoma ISO RGD:1350364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12095757 GREM2 gremlin 2, DAN family BMP antagonist gene DOID:630 genetic disease ISO RGD:1350364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095757 GREM2 gremlin 2, DAN family BMP antagonist gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12095757 GREM2 gremlin 2, DAN family BMP antagonist gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1350364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 12095757 GREM2 gremlin 2, DAN family BMP antagonist gene DOID:9008387 Selective Tooth Agenesis 9 ISO RGD:1350364 D RGD:7240710 20190315 OMIM 12095757 GREM2 gremlin 2, DAN family BMP antagonist gene DOID:9008387 Selective Tooth Agenesis 9 ISO RGD:1350364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 9 PMID:23401279|PMID:25741868|PMID:26416033 12095757 GREM2 gremlin 2, DAN family BMP antagonist gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12095771 AJM1 apical junction component 1 homolog gene DOID:0050777 Joubert syndrome ISO RGD:3302853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12095771 AJM1 apical junction component 1 homolog gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:3302853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12095771 AJM1 apical junction component 1 homolog gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:3302853 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12095771 AJM1 apical junction component 1 homolog gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:3302853 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12095771 AJM1 apical junction component 1 homolog gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:3302853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12095771 AJM1 apical junction component 1 homolog gene DOID:0080324 tuberous sclerosis 1 ISO RGD:3302853 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12095771 AJM1 apical junction component 1 homolog gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:3302853 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12095771 AJM1 apical junction component 1 homolog gene DOID:0080600 COVID-19 ISO RGD:3302853 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12095771 AJM1 apical junction component 1 homolog gene DOID:0081097 Rafiq syndrome ISO RGD:3302853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12095771 AJM1 apical junction component 1 homolog gene DOID:3652 Leigh disease ISO RGD:3302853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12095771 AJM1 apical junction component 1 homolog gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:3302853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12095786 SNAI3 snail family transcriptional repressor 3 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1320115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 12095786 SNAI3 snail family transcriptional repressor 3 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1320115 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12095786 SNAI3 snail family transcriptional repressor 3 gene DOID:14780 KBG syndrome ISO RGD:1320115 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 12095786 SNAI3 snail family transcriptional repressor 3 gene DOID:630 genetic disease ISO RGD:1320115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095786 SNAI3 snail family transcriptional repressor 3 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1320115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 12095786 SNAI3 snail family transcriptional repressor 3 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1320115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12095793 FKBP11 FKBP prolyl isomerase 11 gene DOID:3910 lung adenocarcinoma ISO RGD:1314619 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12095793 FKBP11 FKBP prolyl isomerase 11 gene DOID:630 genetic disease ISO RGD:1314619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095793 FKBP11 FKBP prolyl isomerase 11 gene DOID:9006205 Animal Disease Models ISO RGD:1314619 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12095803 SHISA3 shisa family member 3 gene DOID:630 genetic disease ISO RGD:2292184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095803 SHISA3 shisa family member 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2292184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12095808 ITPRIPL1 ITPRIP like 1 gene DOID:10283 prostate cancer ISO RGD:1603562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12095808 ITPRIPL1 ITPRIP like 1 gene DOID:1059 intellectual disability ISO RGD:1603562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12095808 ITPRIPL1 ITPRIP like 1 gene DOID:5419 schizophrenia ISO RGD:1603562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12095808 ITPRIPL1 ITPRIP like 1 gene DOID:630 genetic disease ISO RGD:1603562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095823 TMEM138 transmembrane protein 138 gene DOID:0050777 Joubert syndrome ISO RGD:1604817 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:22282472|PMID:28102635|PMID:28492532 12095823 TMEM138 transmembrane protein 138 gene DOID:0050777 Joubert syndrome ISO RGD:1604817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:17576681|PMID:22282472|PMID:27081510|PMID:28102635|PMID:28492532|PMID:9536098 12095823 TMEM138 transmembrane protein 138 gene DOID:0050778 Meckel syndrome ISO RGD:1604817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 12095823 TMEM138 transmembrane protein 138 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12095823 TMEM138 transmembrane protein 138 gene DOID:0110985 Joubert Syndrome 16 ISO RGD:1604817 D RGD:7240710 20191002 OMIM 12095823 TMEM138 transmembrane protein 138 gene DOID:0110985 Joubert Syndrome 16 ISO RGD:1604817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 16 PMID:17576681|PMID:22282472|PMID:25741868|PMID:26092869|PMID:26489029|PMID:27081510|PMID:27434533|PMID:28102635|PMID:28289185|PMID:28492532|PMID:32404165|PMID:9536098 12095823 TMEM138 transmembrane protein 138 gene DOID:1059 intellectual disability ISO RGD:1604817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12095823 TMEM138 transmembrane protein 138 gene DOID:630 genetic disease ISO RGD:1604817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12095840 FUNDC2 FUN14 domain containing 2 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1351400 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12095840 FUNDC2 FUN14 domain containing 2 gene DOID:0050476 Barth syndrome ISO RGD:1351400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12095840 FUNDC2 FUN14 domain containing 2 gene DOID:0050800 creatine transporter deficiency ISO RGD:1351400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12095840 FUNDC2 FUN14 domain containing 2 gene DOID:0112003 immunodeficiency 33 ISO RGD:1351400 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12095840 FUNDC2 FUN14 domain containing 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:1351400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12095840 FUNDC2 FUN14 domain containing 2 gene DOID:11372 megacolon ISO RGD:1351400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12095840 FUNDC2 FUN14 domain containing 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1351400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12095840 FUNDC2 FUN14 domain containing 2 gene DOID:12134 factor VIII deficiency ISO RGD:1351400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar Annotator: match by term: Hemophilia A PMID:2105106|PMID:2563431 12095840 FUNDC2 FUN14 domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1351400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12095840 FUNDC2 FUN14 domain containing 2 gene DOID:13628 favism ISO RGD:1351400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12095840 FUNDC2 FUN14 domain containing 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1351400 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12095840 FUNDC2 FUN14 domain containing 2 gene DOID:607 paraplegia ISO RGD:1351400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12095840 FUNDC2 FUN14 domain containing 2 gene DOID:630 genetic disease ISO RGD:1351400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095840 FUNDC2 FUN14 domain containing 2 gene DOID:9002720 Splenomegaly ISO RGD:1351400 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12095852 C10H2orf15 chromosome 10 C2orf15 homolog gene DOID:630 genetic disease ISO RGD:1321082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25326635|PMID:25741868|PMID:31042466|PMID:35388219 12095852 C10H2orf15 chromosome 10 C2orf15 homolog gene DOID:9001276 Failure to Thrive ISO RGD:1321082 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 12095852 C10H2orf15 chromosome 10 C2orf15 homolog gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1321082 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 12095852 C10H2orf15 chromosome 10 C2orf15 homolog gene DOID:9004538 Hearing Loss ISO RGD:1321082 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 12095852 C10H2orf15 chromosome 10 C2orf15 homolog gene DOID:9005603 Muscle Hypotonia ISO RGD:1321082 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 12095852 C10H2orf15 chromosome 10 C2orf15 homolog gene DOID:9008121 Lipoyltransferase 1 Deficiency ISO RGD:1321082 D RGD:7240710 20200527 OMIM 12095852 C10H2orf15 chromosome 10 C2orf15 homolog gene DOID:9008121 Lipoyltransferase 1 Deficiency ISO RGD:1321082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency PMID:17570395|PMID:24256811|PMID:24341803|PMID:25326635|PMID:25741868|PMID:25787132|PMID:27247813|PMID:28492532|PMID:31042466|PMID:33531667|PMID:34440436|PMID:35388219 12095875 LOC100686711 CMRF35-like molecule 7 gene DOID:630 genetic disease ISO RGD:1604243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095885 OR5D13P olfactory receptor family 5 subfamily D member 13, pseudogene gene DOID:1059 intellectual disability ISO RGD:1348417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12095885 OR5D13P olfactory receptor family 5 subfamily D member 13, pseudogene gene DOID:630 genetic disease ISO RGD:1348417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095893 JAKMIP3 Janus kinase and microtubule interacting protein 3 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1316212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12095893 JAKMIP3 Janus kinase and microtubule interacting protein 3 gene DOID:630 genetic disease ISO RGD:1316212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095915 FAHD2A fumarylacetoacetate hydrolase domain containing 2A gene DOID:1059 intellectual disability ISO RGD:1602649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12095915 FAHD2A fumarylacetoacetate hydrolase domain containing 2A gene DOID:5419 schizophrenia ISO RGD:1602649 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12095915 FAHD2A fumarylacetoacetate hydrolase domain containing 2A gene DOID:630 genetic disease ISO RGD:1602649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095931 OR51E2 olfactory receptor family 51 subfamily E member 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:736827 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12095931 OR51E2 olfactory receptor family 51 subfamily E member 2 gene DOID:630 genetic disease ISO RGD:736827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12095931 OR51E2 olfactory receptor family 51 subfamily E member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:628858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12095931 OR51E2 olfactory receptor family 51 subfamily E member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:628858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12096034 PCLO piccolo presynaptic cytomatrix protein gene DOID:0050834 CHARGE syndrome ISO RGD:69449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 12096034 PCLO piccolo presynaptic cytomatrix protein gene DOID:0060272 pontocerebellar hypoplasia type 3 ISO RGD:69449 D RGD:7240710 20180130 OMIM 12096034 PCLO piccolo presynaptic cytomatrix protein gene DOID:0060272 pontocerebellar hypoplasia type 3 ISO RGD:69449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 3 PMID:12771259|PMID:25741868|PMID:25832664|PMID:28492532 12096034 PCLO piccolo presynaptic cytomatrix protein gene DOID:10907 microcephaly ISO RGD:69449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12096034 PCLO piccolo presynaptic cytomatrix protein gene DOID:1826 epilepsy ISO RGD:69449 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 12096034 PCLO piccolo presynaptic cytomatrix protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12096034 PCLO piccolo presynaptic cytomatrix protein gene DOID:5419 schizophrenia ISO RGD:69449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12096034 PCLO piccolo presynaptic cytomatrix protein gene DOID:630 genetic disease ISO RGD:69449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31785789 12096034 PCLO piccolo presynaptic cytomatrix protein gene DOID:9000271 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation ISO RGD:69449 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation PMID:25741868|PMID:28492532 12096057 ZNF169 zinc finger protein 169 gene DOID:12642 hiatus hernia ISO RGD:1312178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hiatus hernia 12096057 ZNF169 zinc finger protein 169 gene DOID:630 genetic disease ISO RGD:1312178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096057 ZNF169 zinc finger protein 169 gene DOID:9970 obesity ISO RGD:1312178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 12096079 KLHL8 kelch like family member 8 gene DOID:630 genetic disease ISO RGD:1312275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096079 KLHL8 kelch like family member 8 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1312275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12096100 TMEM171 transmembrane protein 171 gene DOID:630 genetic disease ISO RGD:1606157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096100 TMEM171 transmembrane protein 171 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12096112 IGSF10 immunoglobulin superfamily member 10 gene DOID:0050579 glycogen storage disease XV ISO RGD:1352652 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12096112 IGSF10 immunoglobulin superfamily member 10 gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1352652 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:25741868 12096112 IGSF10 immunoglobulin superfamily member 10 gene DOID:5426 primary ovarian insufficiency ISO RGD:1352652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:28492532|PMID:31042289 12096112 IGSF10 immunoglobulin superfamily member 10 gene DOID:630 genetic disease ISO RGD:1352652 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12096125 ELMO2 engulfment and cell motility 2 gene DOID:2234 focal epilepsy ISO RGD:1314023 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12096125 ELMO2 engulfment and cell motility 2 gene DOID:630 genetic disease ISO RGD:1314023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096125 ELMO2 engulfment and cell motility 2 gene DOID:9007873 Primary Intraosseous Vascular Malformation ISO RGD:1314023 D RGD:7240710 20190315 OMIM 12096125 ELMO2 engulfment and cell motility 2 gene DOID:9007873 Primary Intraosseous Vascular Malformation ISO RGD:1314023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular malformation, primary intraosseous PMID:11932989|PMID:25741868|PMID:27476657 12096155 RIOK1 RIO kinase 1 gene DOID:630 genetic disease ISO RGD:1314499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096176 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:0060249 scoliosis ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 12096176 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:0080006 bone development disease ISO RGD:1601866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20018682 12096176 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome ISO RGD:1601866 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome PMID:17351359|PMID:20018682|PMID:23320496|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24194475|PMID:24424126|PMID:25741868|PMID:28492532|PMID:29682451|PMID:30755392|PMID:31102500|PMID:32214227 12096176 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:0081124 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 ISO RGD:1601866 D RGD:7240710 20220810 OMIM 12096176 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: sensorineural hearing loss disorder PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 12096176 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:1059 intellectual disability ISO RGD:1601866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20018682 12096176 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:1067 open-angle glaucoma ISO RGD:1601866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532571 12096176 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:11383 cryptorchidism ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: undescended testicle PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 12096176 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:12849 autistic disorder ISO RGD:1601866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic disorder of childhood onset PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 12096176 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:13088 periventricular leukomalacia ISO RGD:1601866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periventricular leukomalacia PMID:25741868 12096176 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:14766 renal agenesis ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal agenesis PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 12096176 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1601866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12096176 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:540 strabismus ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 12096176 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:630 genetic disease ISO RGD:1601866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096176 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 12096176 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:674 cleft palate ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 12096176 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1601866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:25741868 12096176 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:9004934 BILATERAL CLEFT LIP ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bilateral cleft lip PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 12096176 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:1601866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20018682 12096176 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 12096176 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1601866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20018682 12096176 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:9009007 Tooth Abnormalities ISO RGD:1601866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20018682 12096176 TMCO1 transmembrane and coiled-coil domains 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12096190 HERC4 HECT and RLD domain containing E3 ubiquitin protein ligase 4 gene DOID:630 genetic disease ISO RGD:1322175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096239 NUDCD2 NudC domain containing 2 gene DOID:630 genetic disease ISO RGD:1353286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096247 LSM11 LSM11, U7 small nuclear RNA associated gene DOID:630 genetic disease ISO RGD:1354131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096247 LSM11 LSM11, U7 small nuclear RNA associated gene DOID:9001117 Aicardi-Goutieres Syndrome 8 ISO RGD:1354131 D RGD:7240710 20210825 OMIM 12096247 LSM11 LSM11, U7 small nuclear RNA associated gene DOID:9001117 Aicardi-Goutieres Syndrome 8 ISO RGD:1354131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 PMID:33230297 12096255 RNF216 ring finger protein 216 gene DOID:0081284 rosette-forming glioneuronal tumor ISO RGD:1604006 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor PMID:26822237|PMID:27626068 12096255 RNF216 ring finger protein 216 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1604006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25558065 12096255 RNF216 ring finger protein 216 gene DOID:0111587 Gordon Holmes syndrome ISO RGD:1604006 D RGD:7240710 20180130 OMIM 12096255 RNF216 ring finger protein 216 gene DOID:0111587 Gordon Holmes syndrome ISO RGD:1604006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome PMID:11932290|PMID:23656588|PMID:25741868|PMID:25841028|PMID:28492532|PMID:32982993 12096255 RNF216 ring finger protein 216 gene DOID:630 genetic disease ISO RGD:1604006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12096279 GLE1 GLE1 RNA export mediator gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316460 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12096279 GLE1 GLE1 RNA export mediator gene DOID:0060558 lethal congenital contracture syndrome ISO RGD:1316460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 12096279 GLE1 GLE1 RNA export mediator gene DOID:0060559 lethal congenital contracture syndrome 1 ISO RGD:1316460 D RGD:7240710 20180130 OMIM 12096279 GLE1 GLE1 RNA export mediator gene DOID:0060559 lethal congenital contracture syndrome 1 ISO RGD:1316460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lethal autosomal recessive syndrome of multiple congenital contractures | ClinVar Annotator: match by term: Lethal congenital contractural syndrome Finnish type | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 1 PMID:16892327|PMID:18204449|PMID:24243016|PMID:24961629|PMID:25741868|PMID:28492532|PMID:28884921|PMID:29899397|PMID:32954510|PMID:7770128 12096279 GLE1 GLE1 RNA export mediator gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316460 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12096279 GLE1 GLE1 RNA export mediator gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1316460 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:28492532 12096279 GLE1 GLE1 RNA export mediator gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316460 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12096279 GLE1 GLE1 RNA export mediator gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1316460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease PMID:25741868|PMID:28884921 12096279 GLE1 GLE1 RNA export mediator gene DOID:630 genetic disease ISO RGD:1316460 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18204449|PMID:24961629|PMID:25741868|PMID:28492532|PMID:28884921|PMID:29899397|PMID:32954510 12096279 GLE1 GLE1 RNA export mediator gene DOID:9003573 Congenital Arthrogryposis with Anterior Horn Cell Disease ISO RGD:1316460 D RGD:7240710 20180130 OMIM 12096279 GLE1 GLE1 RNA export mediator gene DOID:9003573 Congenital Arthrogryposis with Anterior Horn Cell Disease ISO RGD:1316460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE | ClinVar Annotator: match by term: Lethal arthrogryposis with anterior horn cell disease PMID:16892327|PMID:18204449|PMID:24243016|PMID:24961629|PMID:25741868|PMID:27684565|PMID:28492532|PMID:28657126|PMID:28884921|PMID:29899397|PMID:32954510|PMID:7770128 12096299 DMRTA1 DMRT like family A1 gene DOID:5419 schizophrenia ISO RGD:1320325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12096299 DMRTA1 DMRT like family A1 gene DOID:630 genetic disease ISO RGD:1320325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096304 FOXO3 forkhead box O3 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1319403 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 12096304 FOXO3 forkhead box O3 gene DOID:0050902 medulloblastoma ISO RGD:1319403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26822237 12096304 FOXO3 forkhead box O3 gene DOID:0080147 lymphoblastic lymphoma ISO RGD:1553155 D RGD:9068941 20221027 RGD PMID:17254969|REF_RGD_ID:155630604 12096304 FOXO3 forkhead box O3 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1319403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12096304 FOXO3 forkhead box O3 gene DOID:10283 prostate cancer ISO RGD:1319403 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:lower in tumor vs adjacent normal tissue (p<0.05 compared to at least one housekeeping gene) PMID:18336616|REF_RGD_ID:2301729 12096304 FOXO3 forkhead box O3 gene DOID:10652 Alzheimer's disease ISO RGD:1319403 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:23585551|REF_RGD_ID:7327146 12096304 FOXO3 forkhead box O3 gene DOID:10652 Alzheimer's disease ISO RGD:1319403 D RGD:9068941 20200609 RGD protein:increased expression:lymphoblast,nucleus: PMID:23153928|REF_RGD_ID:10402185 12096304 FOXO3 forkhead box O3 gene DOID:10652 Alzheimer's disease ISO RGD:1553155 D RGD:9068941 20200609 RGD protein:altered expression:cortical neuron,nucleus: PMID:23661003|REF_RGD_ID:10402187 12096304 FOXO3 forkhead box O3 gene DOID:10652 Alzheimer's disease ISO RGD:1553155 D RGD:9068941 20211126 RGD protein:increased expression:hippocampal neuron (mouse) PMID:28157684|REF_RGD_ID:11061905 12096304 FOXO3 forkhead box O3 gene DOID:1824 status epilepticus ISO RGD:1553155 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus,mitochondrion: PMID:23278239|REF_RGD_ID:10402198 12096304 FOXO3 forkhead box O3 gene DOID:255 hemangioma ISO RGD:1553155 D RGD:9068941 20221027 RGD PMID:17254969|REF_RGD_ID:155630604 12096304 FOXO3 forkhead box O3 gene DOID:2870 endometrial adenocarcinoma severity ISO RGD:1319403 D RGD:9068941 20200609 RGD associated with Obesity;protein:decreased expression:endometrium (human) PMID:26045339|REF_RGD_ID:11530998 12096304 FOXO3 forkhead box O3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1319403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23099361 12096304 FOXO3 forkhead box O3 gene DOID:3328 temporal lobe epilepsy ISO RGD:1319403 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus,mitochondrion: PMID:23278239|REF_RGD_ID:10402198 12096304 FOXO3 forkhead box O3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1319403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19380174 12096304 FOXO3 forkhead box O3 gene DOID:3910 lung adenocarcinoma ISO RGD:1319403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19380174 12096304 FOXO3 forkhead box O3 gene DOID:5082 liver cirrhosis ISO RGD:1319403 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:33372984 12096304 FOXO3 forkhead box O3 gene DOID:5117 dermoid cyst of ovary ISO RGD:1553155 D RGD:9068941 20220825 MouseDO OMIM:166950 12096304 FOXO3 forkhead box O3 gene DOID:5648 choroid plexus carcinoma ISO RGD:1319403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Choroid plexus carcinoma PMID:26822237 12096304 FOXO3 forkhead box O3 gene DOID:630 genetic disease ISO RGD:1319403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096304 FOXO3 forkhead box O3 gene DOID:7148 rheumatoid arthritis ISO RGD:1319403 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:peripheral blood mononuclear cell, polymorphonuclear cell,synovium: PMID:19435720|REF_RGD_ID:10402186 12096304 FOXO3 forkhead box O3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1309196 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord,neuron, astrocyte: PMID:22930444|REF_RGD_ID:10402202 12096304 FOXO3 forkhead box O3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1319403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27742544 12096304 FOXO3 forkhead box O3 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1309196 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex,nucleus: PMID:24229603|REF_RGD_ID:10402203 12096304 FOXO3 forkhead box O3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1309196 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:decreased phosphorylation:heart: PMID:18192848|REF_RGD_ID:2293330 12096304 FOXO3 forkhead box O3 gene DOID:9004994 Embryo Loss ISO RGD:1319403 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038060 12096304 FOXO3 forkhead box O3 gene DOID:9005396 Intimal Hyperplasia ISO RGD:1319403 D RGD:9068941 20200609 RGD PMID:15662024|REF_RGD_ID:10402197 12096304 FOXO3 forkhead box O3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309196 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:12683947|REF_RGD_ID:10402199 12096304 FOXO3 forkhead box O3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309196 D RGD:9068941 20200609 RGD protein:increased phosphorylation, increased expression:glomerulus, cytoplasm: PMID:17082237|REF_RGD_ID:10402196 12096304 FOXO3 forkhead box O3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1319403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23090186|PMID:23792339 12096304 FOXO3 forkhead box O3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1553155 D RGD:9068941 20200609 RGD protein:increased phosphorylation, increased expression:glomerulus, cytoplasm: PMID:17082237|REF_RGD_ID:10402196 12096304 FOXO3 forkhead box O3 gene DOID:9006182 Carotid Artery Injuries ISO RGD:1309196 D RGD:9068941 20200609 RGD PMID:15662024|REF_RGD_ID:10402197 12096304 FOXO3 forkhead box O3 gene DOID:9007479 Habitual Abortions ISO RGD:1319403 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038060 12096304 FOXO3 forkhead box O3 gene DOID:9970 obesity ISO RGD:1309196 D RGD:9068941 20200609 RGD protein:increased expression:myocardium: PMID:16467659|REF_RGD_ID:10402201 12096304 FOXO3 forkhead box O3 gene DOID:9970 obesity ISO RGD:1319403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23954404 12096311 TRMT9B tRNA methyltransferase 9B (putative) gene DOID:630 genetic disease ISO RGD:1602875 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096335 IKZF1 IKAROS family zinc finger 1 gene DOID:0060058 lymphoma ISO RGD:1345718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11980663 12096335 IKZF1 IKAROS family zinc finger 1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1345718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24141364 12096335 IKZF1 IKAROS family zinc finger 1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma disease_progression ISO RGD:1345718 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:22699455|REF_RGD_ID:11075072 12096335 IKZF1 IKAROS family zinc finger 1 gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:1345718 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive 12096335 IKZF1 IKAROS family zinc finger 1 gene DOID:0081155 common variable immunodeficiency 13 ISO RGD:1345718 D RGD:7240710 20190315 OMIM 12096335 IKZF1 IKAROS family zinc finger 1 gene DOID:0081155 common variable immunodeficiency 13 ISO RGD:1345718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 13 PMID:21548011|PMID:25741868|PMID:26981933|PMID:27939403|PMID:28492532|PMID:28927821|PMID:30940614|PMID:31057532|PMID:31089937 12096335 IKZF1 IKAROS family zinc finger 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1345718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12096335 IKZF1 IKAROS family zinc finger 1 gene DOID:3307 teratoma ISO RGD:1345718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 12096335 IKZF1 IKAROS family zinc finger 1 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1345718 D RGD:9068941 20220204 RGD mRNA:increased expression:lung (human) PMID:33738286|REF_RGD_ID:151347632 12096335 IKZF1 IKAROS family zinc finger 1 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1345718 D RGD:9068941 20211231 RGD protein:increased expression:lung (human) PMID:32787735|REF_RGD_ID:150540324 12096335 IKZF1 IKAROS family zinc finger 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12096335 IKZF1 IKAROS family zinc finger 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1345718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868|PMID:26981933|PMID:27939403|PMID:28096536|PMID:28492532|PMID:29889099|PMID:32319000|PMID:32499645|PMID:32531373 12096335 IKZF1 IKAROS family zinc finger 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1345718 D RGD:9068941 20211231 RGD protein:increased expression:liver (human) PMID:25301737|REF_RGD_ID:150540326 12096335 IKZF1 IKAROS family zinc finger 1 gene DOID:8577 ulcerative colitis ISO RGD:1345718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 12096335 IKZF1 IKAROS family zinc finger 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345718 D RGD:9068941 20211231 RGD associated with colorectal cancer;DNA:polymorphisms: PMID:31320627|REF_RGD_ID:150540328 12096335 IKZF1 IKAROS family zinc finger 1 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1345718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 12096335 IKZF1 IKAROS family zinc finger 1 gene DOID:9009142 Diamond-Blackfan Anemia-Like ISO RGD:1345718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia-like 12096335 IKZF1 IKAROS family zinc finger 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1345718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838193 12096335 IKZF1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer ISO RGD:1345718 D RGD:9068941 20211231 RGD DNA:hypermethylation:promoter (human) PMID:29780264|PMID:31010820|REF_RGD_ID:150540322|REF_RGD_ID:150540329 12096335 IKZF1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1345718 D RGD:9068941 20211231 RGD DNA:hypermethylation: (human) PMID:25928810|PMID:29796114|PMID:33478584|REF_RGD_ID:150540320|REF_RGD_ID:150540323|REF_RGD_ID:150540327 12096335 IKZF1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1345718 D RGD:9068941 20211231 RGD DNA:hypermethylation:promoter (human) PMID:21737484|REF_RGD_ID:150540325 12096335 IKZF1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1345718 D RGD:9068941 20220204 RGD DNA:hypermethylation: (human) PMID:27726312|PMID:29992492|PMID:31909823|PMID:32958500|REF_RGD_ID:150540317|REF_RGD_ID:150540319|REF_RGD_ID:150540321|REF_RGD_ID:151347633 12096335 IKZF1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer severity ISO RGD:1345718 D RGD:9068941 20211231 RGD DNA:polymorphisms: (human) PMID:31320627|REF_RGD_ID:150540328 12096335 IKZF1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1345718 D RGD:9068941 20211231 RGD DNA:SNP:3' utr: (rs6964823) (human) PMID:33723131|REF_RGD_ID:150540318 12096335 IKZF1 IKAROS family zinc finger 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1345718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphocytic, susceptibility to, 2 PMID:25741868|PMID:28492532 12096365 AMT aminomethyltransferase gene DOID:0060852 Pierson syndrome ISO RGD:1343884 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 12096365 AMT aminomethyltransferase gene DOID:1826 epilepsy ISO RGD:1343884 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12096365 AMT aminomethyltransferase gene DOID:630 genetic disease ISO RGD:1343884 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12948742|PMID:23352163|PMID:25741868|PMID:26179960|PMID:27362913|PMID:27620832|PMID:27884173|PMID:28492532|PMID:8005589|PMID:9580775 12096365 AMT aminomethyltransferase gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1343884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12096365 AMT aminomethyltransferase gene DOID:9002802 Acidoses ISO RGD:1359408 D RGD:9068941 20200609 RGD PMID:3877504|REF_RGD_ID:1599107 12096365 AMT aminomethyltransferase gene DOID:9003907 Aicardi-Goutieres Syndrome 2 ISO RGD:1343884 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 PMID:25741868|PMID:28492532 12096365 AMT aminomethyltransferase gene DOID:9268 glycine encephalopathy ISO RGD:1343884 D RGD:7240710 20180130 OMIM 12096365 AMT aminomethyltransferase gene DOID:9268 glycine encephalopathy ISO RGD:1343884 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:10873393|PMID:11139253|PMID:11286506|PMID:12948742|PMID:15272469|PMID:16051266|PMID:16199547|PMID:16450403|PMID:17576681|PMID:19299230|PMID:20301531|PMID:20949620|PMID:21520333|PMID:22171071|PMID:22261077|PMID:22532538|PMID:23352163|PMID:24033266|PMID:25231368|PMID:25640679|PMID:25741868|PMID:26179960|PMID:26371980|PMID:26467025|PMID:27164344|PMID:27362913|PMID:27620832|PMID:27884173|PMID:28244183|PMID:28462797|PMID:28492532|PMID:29300369|PMID:30105116|PMID:31319225|PMID:33726816|PMID:4434100|PMID:6179960|PMID:8005589|PMID:9536098|PMID:9580775|PMID:9600239|PMID:9621520 12096365 AMT aminomethyltransferase gene DOID:9268 glycine encephalopathy susceptibility ISO RGD:1343884 D RGD:9068941 20200609 RGD PMID:8005589|REF_RGD_ID:1599106 12096383 ZNF335 zinc finger protein 335 gene DOID:0070294 primary autosomal recessive microcephaly 10 ISO RGD:732123 D RGD:7240710 20180130 OMIM 12096383 ZNF335 zinc finger protein 335 gene DOID:0070294 primary autosomal recessive microcephaly 10 ISO RGD:732123 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 10 PMID:19131338|PMID:23178126|PMID:25741868|PMID:27540107|PMID:28327206|PMID:28492532|PMID:29652087|PMID:33216650 12096383 ZNF335 zinc finger protein 335 gene DOID:2234 focal epilepsy ISO RGD:732123 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12096383 ZNF335 zinc finger protein 335 gene DOID:630 genetic disease ISO RGD:732123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19131338|PMID:22495306|PMID:23178126|PMID:25741868|PMID:26795593|PMID:27540107|PMID:28492532 12096383 ZNF335 zinc finger protein 335 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:732123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12096383 ZNF335 zinc finger protein 335 gene DOID:9003016 Aminoacylase 1 Deficiency ISO RGD:732123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of the aminoacylase-1 enzyme 12096420 EFHD1 EF-hand domain family member D1 gene DOID:0060476 Perlman syndrome ISO RGD:1350827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12096420 EFHD1 EF-hand domain family member D1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1350827 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12096420 EFHD1 EF-hand domain family member D1 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1350827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12096420 EFHD1 EF-hand domain family member D1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1350827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 12096420 EFHD1 EF-hand domain family member D1 gene DOID:630 genetic disease ISO RGD:1350827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096420 EFHD1 EF-hand domain family member D1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1350827 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12096427 RREB1 ras responsive element binding protein 1 gene DOID:0080690 RASopathy ISO RGD:1553608 D RGD:9068941 20221006 MouseDO 12096427 RREB1 ras responsive element binding protein 1 gene DOID:10907 microcephaly ISO RGD:1322078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12096427 RREB1 ras responsive element binding protein 1 gene DOID:13938 amenorrhea ISO RGD:1322078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12096427 RREB1 ras responsive element binding protein 1 gene DOID:630 genetic disease ISO RGD:1322078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096456 HS3ST3A1 heparan sulfate-glucosamine 3-sulfotransferase 3A1 gene DOID:630 genetic disease ISO RGD:1322170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096462 ANKRD11 ankyrin repeat domain containing 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1315433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12096462 ANKRD11 ankyrin repeat domain containing 11 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1315433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12096462 ANKRD11 ankyrin repeat domain containing 11 gene DOID:0080598 Kleefstra syndrome 2 ISO RGD:1315433 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 2 PMID:25741868 12096462 ANKRD11 ankyrin repeat domain containing 11 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1315433 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12096462 ANKRD11 ankyrin repeat domain containing 11 gene DOID:1059 intellectual disability ISO RGD:1315433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual deficiency PMID:18414213|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:27667800|PMID:28492532|PMID:32581362 12096462 ANKRD11 ankyrin repeat domain containing 11 gene DOID:1059 intellectual disability ISO RGD:1315433 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:18414213|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:32581362 12096462 ANKRD11 ankyrin repeat domain containing 11 gene DOID:1059 intellectual disability ISO RGD:1315433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual deficiency PMID:18414213|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:27667800|PMID:28492532|PMID:30182498|PMID:32581362 12096462 ANKRD11 ankyrin repeat domain containing 11 gene DOID:11782 astigmatism ISO RGD:1315433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astigmatism 12096462 ANKRD11 ankyrin repeat domain containing 11 gene DOID:1227 neutropenia ISO RGD:1315433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neutropenia 12096462 ANKRD11 ankyrin repeat domain containing 11 gene DOID:13636 Fanconi anemia ISO RGD:1315433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 12096462 ANKRD11 ankyrin repeat domain containing 11 gene DOID:14780 KBG syndrome ISO RGD:1315433 D RGD:7240710 20180130 OMIM 12096462 ANKRD11 ankyrin repeat domain containing 11 gene DOID:14780 KBG syndrome ISO RGD:1315433 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: KBG syndrome | ClinVar Annotator: match by term: Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies PMID:15378538|PMID:15523620|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19344873|PMID:19920853|PMID:21782149|PMID:23463723|PMID:23494856|PMID:24033266|PMID:24088041|PMID:25125236|PMID:25326635|PMID:25356970|PMID:25413698|PMID:25424714|PMID:25464108|PMID:25533962|PMID:25652421|PMID:25741868|PMID:26467025|PMID:26633542|PMID:26633545|PMID:27055092|PMID:27605097|PMID:27651234|PMID:27667800|PMID:27900361|PMID:28449295|PMID:28492532|PMID:28529015|PMID:28708303|PMID:28976722|PMID:29258554|PMID:29517769|PMID:29565525|PMID:30182498|PMID:30202406|PMID:30919572|PMID:30945278|PMID:31191201|PMID:31337854|PMID:31602316|PMID:31607427|PMID:31690835|PMID:32124548|PMID:32222090|PMID:32238909|PMID:32581362|PMID:33955014|PMID:35330407|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35970914|PMID:9536098 12096462 ANKRD11 ankyrin repeat domain containing 11 gene DOID:1826 epilepsy ISO RGD:1315433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12096462 ANKRD11 ankyrin repeat domain containing 11 gene DOID:630 genetic disease ISO RGD:1315433 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15523620|PMID:15955779|PMID:17576681|PMID:19344873|PMID:21782149|PMID:24088041|PMID:25125236|PMID:25326635|PMID:25356970|PMID:25413698|PMID:25464108|PMID:25473036|PMID:25652421|PMID:25741868|PMID:26467025|PMID:26615199|PMID:26633545|PMID:27055092|PMID:27605097|PMID:27651234|PMID:27667800|PMID:28492532|PMID:28529015|PMID:29258554|PMID:29517769|PMID:30182498|PMID:30919572|PMID:31191201|PMID:32124548|PMID:32581362|PMID:33955014|PMID:35330407|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35970914|PMID:9536098 12096462 ANKRD11 ankyrin repeat domain containing 11 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1315433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17986521 12096462 ANKRD11 ankyrin repeat domain containing 11 gene DOID:9002914 Familial Sudden Death ISO RGD:1315433 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Sudden unexplained death in childhood PMID:25413698|PMID:25741868|PMID:31191201 12096462 ANKRD11 ankyrin repeat domain containing 11 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1315433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12096462 ANKRD11 ankyrin repeat domain containing 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12096462 ANKRD11 ankyrin repeat domain containing 11 gene DOID:9006534 Nervous System Malformations ISO RGD:1315433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:32581362 12096462 ANKRD11 ankyrin repeat domain containing 11 gene DOID:9008086 Developmental Disabilities ISO RGD:1315433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:21782149|PMID:24088041|PMID:25125236|PMID:25413698|PMID:25464108|PMID:25652421|PMID:25741868|PMID:26467025|PMID:26633545|PMID:27605097|PMID:27667800|PMID:28492532|PMID:31607427|PMID:32124548|PMID:33955014|PMID:35330407|PMID:35682590 12096462 ANKRD11 ankyrin repeat domain containing 11 gene DOID:9008582 Developmental Disease ISO RGD:1315433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12096462 ANKRD11 ankyrin repeat domain containing 11 gene DOID:9009062 Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis ISO RGD:1315433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis PMID:21782149|PMID:25741868|PMID:26467025|PMID:28492532 12096499 TRIM50 tripartite motif containing 50 gene DOID:0060041 autism spectrum disorder ISO RGD:735660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12096499 TRIM50 tripartite motif containing 50 gene DOID:10923 sickle cell anemia ISO RGD:735660 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12096499 TRIM50 tripartite motif containing 50 gene DOID:12849 autistic disorder ISO RGD:735660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12096499 TRIM50 tripartite motif containing 50 gene DOID:1928 Williams-Beuren syndrome ISO RGD:735660 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 12096499 TRIM50 tripartite motif containing 50 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12096499 TRIM50 tripartite motif containing 50 gene DOID:5419 schizophrenia ISO RGD:735660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12096499 TRIM50 tripartite motif containing 50 gene DOID:630 genetic disease ISO RGD:735660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096499 TRIM50 tripartite motif containing 50 gene DOID:8445 intestinal volvulus ISO RGD:735660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12096499 TRIM50 tripartite motif containing 50 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12096499 TRIM50 tripartite motif containing 50 gene DOID:9008419 Volvulus Of Midgut ISO RGD:735660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12096513 TRIM46 tripartite motif containing 46 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1314352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12096513 TRIM46 tripartite motif containing 46 gene DOID:0111940 immunodeficiency 42 ISO RGD:1314352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12096513 TRIM46 tripartite motif containing 46 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12096513 TRIM46 tripartite motif containing 46 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314352 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12096513 TRIM46 tripartite motif containing 46 gene DOID:1540 parathyroid carcinoma ISO RGD:1314352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12096513 TRIM46 tripartite motif containing 46 gene DOID:5812 MHC class II deficiency ISO RGD:1314352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12096513 TRIM46 tripartite motif containing 46 gene DOID:630 genetic disease ISO RGD:1314352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096513 TRIM46 tripartite motif containing 46 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12096541 DCAF11 DDB1 and CUL4 associated factor 11 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1322665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12096541 DCAF11 DDB1 and CUL4 associated factor 11 gene DOID:630 genetic disease ISO RGD:1322665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096541 DCAF11 DDB1 and CUL4 associated factor 11 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1322665 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12096541 DCAF11 DDB1 and CUL4 associated factor 11 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1322665 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12096570 CNTD1 cyclin N-terminal domain containing 1 gene DOID:630 genetic disease ISO RGD:1603365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096582 C17H1orf56 chromosome 17 C1orf56 homolog gene DOID:0111940 immunodeficiency 42 ISO RGD:1603033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12096582 C17H1orf56 chromosome 17 C1orf56 homolog gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12096582 C17H1orf56 chromosome 17 C1orf56 homolog gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12096582 C17H1orf56 chromosome 17 C1orf56 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1603033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12096582 C17H1orf56 chromosome 17 C1orf56 homolog gene DOID:5812 MHC class II deficiency ISO RGD:1603033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12096582 C17H1orf56 chromosome 17 C1orf56 homolog gene DOID:630 genetic disease ISO RGD:1603033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096582 C17H1orf56 chromosome 17 C1orf56 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12096588 FAM168A family with sequence similarity 168 member A gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1604050 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12096588 FAM168A family with sequence similarity 168 member A gene DOID:1059 intellectual disability ISO RGD:1604050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12096588 FAM168A family with sequence similarity 168 member A gene DOID:630 genetic disease ISO RGD:1604050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096588 FAM168A family with sequence similarity 168 member A gene DOID:9000217 Stomach Neoplasms ISO RGD:1604050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12096588 FAM168A family with sequence similarity 168 member A gene DOID:9000918 Disease Progression ISO RGD:1604050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12096613 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 gene DOID:0050475 Weill-Marchesani syndrome ISO RGD:1314467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome PMID:19836009|PMID:25741868|PMID:28492532 12096613 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 gene DOID:0050475 Weill-Marchesani syndrome susceptibility ISO RGD:1557306 D RGD:9068941 20230413 RGD DNA:SNP:cd: p.G661R (mouse) PMID:34424262|REF_RGD_ID:243065144 12096613 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 gene DOID:0080490 mucolipidosis type IV ISO RGD:1314467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 12096613 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 gene DOID:1070 primary open angle glaucoma IAGP D RGD:12801476 20230308 OMIA Glaucoma, primary open angle, ADAMTS10-related PMID:7325430|PMID:7720807|PMID:18435660|PMID:1428571|PMID:22524196|PMID:23518772|PMID:23422823|PMID:21379321|PMID:924743|PMID:7212410|PMID:27212875|PMID:26277300|PMID:25372548|PMID:26456751|PMID:27271467|PMID:27681326|PMID:36855027 12096613 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 gene DOID:12849 autistic disorder ISO RGD:1314467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12096613 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 gene DOID:1891 optic nerve disease ISO RGD:1557306 D RGD:9068941 20230413 RGD DNA:SNP:cd: p.G661R (mouse) PMID:36216203|REF_RGD_ID:243065145 12096613 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 gene DOID:630 genetic disease ISO RGD:1314467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 12096613 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 gene DOID:9002998 Weill-Marchesani Syndrome 1 ISO RGD:1314467 D RGD:7240710 20200101 OMIM 12096613 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 gene DOID:9002998 Weill-Marchesani Syndrome 1 ISO RGD:1314467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 1 PMID:15368195|PMID:18567016|PMID:19836009|PMID:25741868|PMID:28492532 12096655 RPP14 ribonuclease P/MRP subunit p14 gene DOID:630 genetic disease ISO RGD:1313464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096655 RPP14 ribonuclease P/MRP subunit p14 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1313464 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 12096665 PHF6 PHD finger protein 6 gene DOID:0050681 Borjeson-Forssman-Lehmann syndrome ISO RGD:1354174 D RGD:7240710 20180130 OMIM 12096665 PHF6 PHD finger protein 6 gene DOID:0050681 Borjeson-Forssman-Lehmann syndrome ISO RGD:1354174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome PMID:12415272|PMID:13871358|PMID:15241480|PMID:15466013|PMID:15994862|PMID:18414213|PMID:23906836|PMID:24092917|PMID:24728327|PMID:25099957|PMID:25741868|PMID:25741869|PMID:26648834|PMID:27633282|PMID:28492532|PMID:28539120|PMID:28554332|PMID:30630810 12096665 PHF6 PHD finger protein 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12096665 PHF6 PHD finger protein 6 gene DOID:0080199 colorectal carcinoma ISO RGD:1354174 D RGD:9068941 20220929 RGD mRNA:increased expression:colorectal mucosa (human) PMID:28675510|REF_RGD_ID:150524297 12096665 PHF6 PHD finger protein 6 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1354174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:12415272|PMID:15994862|PMID:25741868|PMID:25741869|PMID:28492532 12096665 PHF6 PHD finger protein 6 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:1354174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency PMID:11018746|PMID:15571220|PMID:17027311|PMID:22157001|PMID:23975452|PMID:28492532|PMID:6087154 12096665 PHF6 PHD finger protein 6 gene DOID:1059 intellectual disability ISO RGD:1354174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12096665 PHF6 PHD finger protein 6 gene DOID:12849 autistic disorder ISO RGD:1354174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12096665 PHF6 PHD finger protein 6 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1354174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228800 12096665 PHF6 PHD finger protein 6 gene DOID:6000 congestive heart failure disease_progression ISO RGD:1354174 D RGD:9068941 20221027 RGD DNA:mutations: : PMID:33779075|REF_RGD_ID:155630627 12096665 PHF6 PHD finger protein 6 gene DOID:630 genetic disease ISO RGD:1354174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12415272|PMID:18414213|PMID:24092917|PMID:25099957|PMID:25741868|PMID:26648834|PMID:28492532|PMID:28539120|PMID:30630810 12096665 PHF6 PHD finger protein 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1354174 D RGD:9068941 20220929 RGD mRNA:increased expression:liver (human) PMID:31329335|REF_RGD_ID:155260288 12096665 PHF6 PHD finger protein 6 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1354174 D RGD:9068941 20220929 RGD mRNA:increased expression:liver (human) PMID:30888215|REF_RGD_ID:155260308 12096665 PHF6 PHD finger protein 6 gene DOID:769 neuroblastoma ISO RGD:1354174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 12096665 PHF6 PHD finger protein 6 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1354174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868 12096665 PHF6 PHD finger protein 6 gene DOID:9004507 Hirsutism ISO RGD:1354174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirsutism 12096665 PHF6 PHD finger protein 6 gene DOID:9008086 Developmental Disabilities ISO RGD:1354174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12096665 PHF6 PHD finger protein 6 gene DOID:9119 acute myeloid leukemia severity ISO RGD:1354174 D RGD:9068941 20220929 RGD DNA:mutations:multiple (human) PMID:31186809|REF_RGD_ID:155260286 12096687 OR6C4 olfactory receptor family 6 subfamily C member 4 gene DOID:630 genetic disease ISO RGD:1345773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096704 ADAM29 ADAM metallopeptidase domain 29 gene DOID:630 genetic disease ISO RGD:1342886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096704 ADAM29 ADAM metallopeptidase domain 29 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12096780 PATE1 prostate and testis expressed 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1606693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12096780 PATE1 prostate and testis expressed 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12096780 PATE1 prostate and testis expressed 1 gene DOID:5419 schizophrenia ISO RGD:1606693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12096780 PATE1 prostate and testis expressed 1 gene DOID:630 genetic disease ISO RGD:1606693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096780 PATE1 prostate and testis expressed 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12096780 PATE1 prostate and testis expressed 1 gene DOID:9007661 Dwarfism ISO RGD:1606693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12096803 LGALS2 galectin 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:735390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12096803 LGALS2 galectin 2 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:735390 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12096803 LGALS2 galectin 2 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:735390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12096803 LGALS2 galectin 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12096803 LGALS2 galectin 2 gene DOID:5844 myocardial infarction ISO RGD:735390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:15129282 12096803 LGALS2 galectin 2 gene DOID:5844 myocardial infarction susceptibility ISO RGD:735390 D RGD:7240710 20190502 OMIM 12096803 LGALS2 galectin 2 gene DOID:630 genetic disease ISO RGD:735390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096803 LGALS2 galectin 2 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 12096803 LGALS2 galectin 2 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:735390 D RGD:9068941 20200609 RGD PMID:17040205|REF_RGD_ID:1581853 12096803 LGALS2 galectin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12096815 SETD3 SET domain containing 3, actin histidine methyltransferase gene DOID:630 genetic disease ISO RGD:1319950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096836 CISD3 CDGSH iron sulfur domain 3 gene DOID:630 genetic disease ISO RGD:1626692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12096865 EDN3 endothelin 3 gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:1344952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital central hypoventilation PMID:19556619|PMID:24033266|PMID:28492532|PMID:8696331 12096865 EDN3 endothelin 3 gene DOID:0110954 Waardenburg syndrome type 4B ISO RGD:1344952 D RGD:7240710 20230510 OMIM 12096865 EDN3 endothelin 3 gene DOID:0110954 Waardenburg syndrome type 4B ISO RGD:1344952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 4B PMID:11303518|PMID:19556619|PMID:19764030|PMID:20583152|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8630503|PMID:8696331|PMID:9359047|PMID:9587491 12096865 EDN3 endothelin 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1344952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 12096865 EDN3 endothelin 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1344952 D RGD:7240710 20230510 OMIM 12096865 EDN3 endothelin 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1344952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:10231870|PMID:14633923|PMID:19556619|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532|PMID:8696331|PMID:9359047|PMID:9587491 12096865 EDN3 endothelin 3 gene DOID:10763 hypertension ISO RGD:1344952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2059916 12096865 EDN3 endothelin 3 gene DOID:630 genetic disease ISO RGD:1344952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356970 12096865 EDN3 endothelin 3 gene DOID:9000166 Intrinsic Sleep Disorders ISO RGD:1344952 D RGD:9068941 20200609 RGD congenital central hypoventilation syndrome (CCHS), OMIM:209880;DNA:insertion:exon PMID:8696331|REF_RGD_ID:1601002 12096865 EDN3 endothelin 3 gene DOID:9005027 Waardenburg Syndrome Type 4 ISO RGD:1344952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17516928|PMID:8630502|PMID:8630503 12096865 EDN3 endothelin 3 gene DOID:9006024 Hypotension ISO RGD:1344952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1309933|PMID:7982458 12096865 EDN3 endothelin 3 gene DOID:9007001 Bradycardia ISO RGD:1344952 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1309933 12096865 EDN3 endothelin 3 gene DOID:9258 Waardenburg's syndrome ISO RGD:1344952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome 12096879 KCNJ12 potassium inwardly rectifying channel subfamily J member 12 gene DOID:11054 urinary bladder cancer ISO RGD:733298 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 12096879 KCNJ12 potassium inwardly rectifying channel subfamily J member 12 gene DOID:9000081 Lymphatic Metastasis ISO RGD:733298 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 12096879 KCNJ12 potassium inwardly rectifying channel subfamily J member 12 gene DOID:9000918 Disease Progression ISO RGD:733298 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 12096900 PTH1R parathyroid hormone 1 receptor gene DOID:0050591 tooth agenesis ISO RGD:731312 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Oligodontia PMID:25741868 12096900 PTH1R parathyroid hormone 1 receptor gene DOID:0060387 chondrodysplasia Blomstrand type ISO RGD:731312 D RGD:7240710 20190315 OMIM 12096900 PTH1R parathyroid hormone 1 receptor gene DOID:0060387 chondrodysplasia Blomstrand type ISO RGD:731312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type PMID:10523019|PMID:17164305|PMID:17576681|PMID:18559376|PMID:21404329|PMID:23771181|PMID:25741868|PMID:28492532|PMID:31986066|PMID:3975110|PMID:9268097|PMID:9536098|PMID:9649554|PMID:9745456 12096900 PTH1R parathyroid hormone 1 receptor gene DOID:0080020 Jansen's metaphyseal chondrodysplasia ISO RGD:731312 D RGD:7240710 20190315 OMIM 12096900 PTH1R parathyroid hormone 1 receptor gene DOID:0080020 Jansen's metaphyseal chondrodysplasia ISO RGD:731312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, Jansen type PMID:10487664|PMID:17576681|PMID:18559376|PMID:25741868|PMID:28492532|PMID:7701349|PMID:8076140|PMID:8703170|PMID:9536098 12096900 PTH1R parathyroid hormone 1 receptor gene DOID:0111341 primary failure of tooth eruption ISO RGD:731312 D RGD:7240710 20190315 OMIM 12096900 PTH1R parathyroid hormone 1 receptor gene DOID:0111341 primary failure of tooth eruption ISO RGD:731312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary failure of tooth eruption PMID:17576681|PMID:19061984|PMID:23771181|PMID:25741868|PMID:28492532|PMID:7701349|PMID:8076140|PMID:8703170|PMID:9536098|PMID:9745456 12096900 PTH1R parathyroid hormone 1 receptor gene DOID:0111732 Eiken syndrome ISO RGD:731312 D RGD:7240710 20190315 OMIM 12096900 PTH1R parathyroid hormone 1 receptor gene DOID:0111732 Eiken syndrome ISO RGD:731312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Eiken syndrome PMID:15525660|PMID:25741868|PMID:28492532|PMID:29987841|PMID:31297790 12096900 PTH1R parathyroid hormone 1 receptor gene DOID:10609 rickets ISO RGD:731312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10375030 12096900 PTH1R parathyroid hormone 1 receptor gene DOID:12678 hypercalcemia ISO RGD:3442 D RGD:9068941 20200609 RGD protein:increased expression:odontoblast; associated with neoplasms PMID:16036863|REF_RGD_ID:1599980 12096900 PTH1R parathyroid hormone 1 receptor gene DOID:13543 hyperparathyroidism ISO RGD:731312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11014383 12096900 PTH1R parathyroid hormone 1 receptor gene DOID:2256 osteochondrodysplasia ISO RGD:731312 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chondrodysplasia PMID:25741868 12096900 PTH1R parathyroid hormone 1 receptor gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:731312 D RGD:9068941 20200609 RGD DNA:missense mutations:exon; metaphyseal chondrodysplasia, OMIM:156400 PMID:8703170|REF_RGD_ID:1599978 12096900 PTH1R parathyroid hormone 1 receptor gene DOID:4184 pseudohypoparathyroidism ISO RGD:731312 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Pseudohypoparathyroidism PMID:25741868|PMID:35846276 12096900 PTH1R parathyroid hormone 1 receptor gene DOID:630 genetic disease ISO RGD:731312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12096900 PTH1R parathyroid hormone 1 receptor gene DOID:65 connective tissue disease ISO RGD:731312 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:18559376|PMID:25741868|PMID:28492532 12096900 PTH1R parathyroid hormone 1 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:731312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12096900 PTH1R parathyroid hormone 1 receptor gene DOID:850 lung disease ISO RGD:731312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20857298 12096900 PTH1R parathyroid hormone 1 receptor gene DOID:9000073 Metaphyseal Chondrodysplasia ISO RGD:731312 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia PMID:25741868 12096900 PTH1R parathyroid hormone 1 receptor gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:731312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12096918 P2RY1 purinergic receptor P2Y1 gene DOID:0060903 thrombosis ISO RGD:736104 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17334511 12096918 P2RY1 purinergic receptor P2Y1 gene DOID:1875 impotence ISO RGD:3242 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19303093|REF_RGD_ID:2315809 12096918 P2RY1 purinergic receptor P2Y1 gene DOID:630 genetic disease ISO RGD:736104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096918 P2RY1 purinergic receptor P2Y1 gene DOID:9000998 Brain Injuries ISO RGD:3242 D RGD:9068941 20200609 RGD protein:increased expression:brain, astrocyte PMID:19115395|REF_RGD_ID:2315811 12096923 VPS41 VPS41 subunit of HOPS complex gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12096923 VPS41 VPS41 subunit of HOPS complex gene DOID:630 genetic disease ISO RGD:1353898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096923 VPS41 VPS41 subunit of HOPS complex gene DOID:9008255 Cognitive Impairment with or Without Cerebellar Ataxia ISO RGD:1353898 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia PMID:25741868 12096923 VPS41 VPS41 subunit of HOPS complex gene DOID:9008984 Autosomal Recessive Spinocerebellar Ataxia 29 ISO RGD:1353898 D RGD:7240710 20210728 OMIM 12096923 VPS41 VPS41 subunit of HOPS complex gene DOID:9008984 Autosomal Recessive Spinocerebellar Ataxia 29 ISO RGD:1353898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 29 PMID:32808683|PMID:33764426|PMID:33851776 12096956 POLR2G RNA polymerase II subunit G gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:733856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12096956 POLR2G RNA polymerase II subunit G gene DOID:1059 intellectual disability ISO RGD:733856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12096956 POLR2G RNA polymerase II subunit G gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733856 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12096969 EMB embigin gene DOID:3042 allergic contact dermatitis ISO RGD:1342878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 12096969 EMB embigin gene DOID:630 genetic disease ISO RGD:1342878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12096969 EMB embigin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12096969 EMB embigin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12096984 BCL11A BCL11 transcription factor A gene DOID:0060041 autism spectrum disorder ISO RGD:1320527 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:25363760|REF_RGD_ID:11099981 12096984 BCL11A BCL11 transcription factor A gene DOID:0060135 apraxia ISO RGD:1320527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27120335 12096984 BCL11A BCL11 transcription factor A gene DOID:0070338 cerebellar hypoplasia ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 12096984 BCL11A BCL11 transcription factor A gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1320527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12096984 BCL11A BCL11 transcription factor A gene DOID:0080236 autosomal dominant intellectual developmental disorder 45 ISO RGD:1320527 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 45 PMID:25741868 12096984 BCL11A BCL11 transcription factor A gene DOID:0080600 COVID-19 ISO RGD:1320527 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 12096984 BCL11A BCL11 transcription factor A gene DOID:1059 intellectual disability ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12096984 BCL11A BCL11 transcription factor A gene DOID:10923 sickle cell anemia severity ISO RGD:1320527 D RGD:9068941 20200609 RGD DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human) PMID:18667698|REF_RGD_ID:11099970 12096984 BCL11A BCL11 transcription factor A gene DOID:10923 sickle cell anemia severity ISO RGD:1320528 D RGD:9068941 20200609 RGD PMID:21998251|REF_RGD_ID:11099996 12096984 BCL11A BCL11 transcription factor A gene DOID:10923 sickle cell anemia treatment ISO RGD:1320527 D RGD:9068941 20200609 RGD PMID:22360576|REF_RGD_ID:11100007 12096984 BCL11A BCL11 transcription factor A gene DOID:11612 polycystic ovary syndrome ISO RGD:1320527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12096984 BCL11A BCL11 transcription factor A gene DOID:12241 beta thalassemia ISO RGD:1320527 D RGD:9068941 20200609 RGD DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human) PMID:22258351|REF_RGD_ID:11100005 12096984 BCL11A BCL11 transcription factor A gene DOID:12241 beta thalassemia severity ISO RGD:1320527 D RGD:9068941 20200609 RGD DNA:snp:intron:c.386-17267T>C (rs10189857) (human) PMID:25751242|REF_RGD_ID:11100008 12096984 BCL11A BCL11 transcription factor A gene DOID:12241 beta thalassemia severity ISO RGD:1320527 D RGD:9068941 20200609 RGD DNA:snps:intron:c. 386-24002G>T, c.386-24278G>A (rs766432, rs11886868) (human) PMID:23541515|REF_RGD_ID:11099969 12096984 BCL11A BCL11 transcription factor A gene DOID:12241 beta thalassemia treatment ISO RGD:1320527 D RGD:9068941 20200609 RGD PMID:25574177|REF_RGD_ID:11100011 12096984 BCL11A BCL11 transcription factor A gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1320527 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (human) PMID:23758992|REF_RGD_ID:11099968 12096984 BCL11A BCL11 transcription factor A gene DOID:5419 schizophrenia ISO RGD:1320527 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:25938782|REF_RGD_ID:11099977 12096984 BCL11A BCL11 transcription factor A gene DOID:630 genetic disease ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12196208|PMID:25741868|PMID:29985992 12096984 BCL11A BCL11 transcription factor A gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:31474318 12096984 BCL11A BCL11 transcription factor A gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1320527 D RGD:9068941 20200609 RGD DNA:translocation:5' utr: (human) PMID:11719382|REF_RGD_ID:11100004 12096984 BCL11A BCL11 transcription factor A gene DOID:9003071 Postaxial Polydactyly ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Postaxial polydactyly PMID:25741868 12096984 BCL11A BCL11 transcription factor A gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1320527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12096984 BCL11A BCL11 transcription factor A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12096984 BCL11A BCL11 transcription factor A gene DOID:9005466 Language Development Disorders ISO RGD:1320527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27120335 12096984 BCL11A BCL11 transcription factor A gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12096984 BCL11A BCL11 transcription factor A gene DOID:9006994 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN ISO RGD:1320527 D RGD:7240710 20190315 OMIM 12096984 BCL11A BCL11 transcription factor A gene DOID:9006994 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN | ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin PMID:25741868|PMID:27453576|PMID:28891213|PMID:31474318|PMID:33116287 12096984 BCL11A BCL11 transcription factor A gene DOID:9008086 Developmental Disabilities ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741869 12096984 BCL11A BCL11 transcription factor A gene DOID:9008582 Developmental Disease ISO RGD:1320527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12097005 LGALSL galectin like gene DOID:630 genetic disease ISO RGD:1606012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097005 LGALSL galectin like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12097013 PPP2R5D protein phosphatase 2 regulatory subunit B'delta gene DOID:0050444 infantile Refsum disease ISO RGD:1315410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12097013 PPP2R5D protein phosphatase 2 regulatory subunit B'delta gene DOID:0070065 autosomal dominant intellectual developmental disorder 35 ISO RGD:1315410 D RGD:7240710 20180130 OMIM 12097013 PPP2R5D protein phosphatase 2 regulatory subunit B'delta gene DOID:0070065 autosomal dominant intellectual developmental disorder 35 ISO RGD:1315410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 35 | ClinVar Annotator: match by term: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome PMID:18414213|PMID:19344873|PMID:24896178|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:26576547|PMID:27350047|PMID:28191890|PMID:28492532|PMID:28554332|PMID:28867141|PMID:29296277|PMID:30676711|PMID:32005694|PMID:32074998|PMID:32371413|PMID:32743835|PMID:33098144|PMID:33482199|PMID:33628804|PMID:33727758|PMID:34490615|PMID:34906502|PMID:35887114 12097013 PPP2R5D protein phosphatase 2 regulatory subunit B'delta gene DOID:1059 intellectual disability ISO RGD:1315410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18414213|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:28191890|PMID:28492532|PMID:28554332|PMID:29296277|PMID:30676711|PMID:32074998|PMID:33098144|PMID:34906502 12097013 PPP2R5D protein phosphatase 2 regulatory subunit B'delta gene DOID:630 genetic disease ISO RGD:1315410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:19344873|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:26576547|PMID:27350047|PMID:28191890|PMID:28492532|PMID:28554332|PMID:28867141|PMID:29296277|PMID:30676711|PMID:32005694|PMID:32074998|PMID:32371413|PMID:32743835|PMID:33482199|PMID:33727758|PMID:34490615|PMID:35887114 12097013 PPP2R5D protein phosphatase 2 regulatory subunit B'delta gene DOID:680 tauopathy ISO RGD:1315411 D RGD:9068941 20200609 RGD PMID:21482799|REF_RGD_ID:13515115 12097013 PPP2R5D protein phosphatase 2 regulatory subunit B'delta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315410 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26168268|PMID:27350047|PMID:32074998 12097013 PPP2R5D protein phosphatase 2 regulatory subunit B'delta gene DOID:9008086 Developmental Disabilities ISO RGD:1315410 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:18414213|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:28191890|PMID:28492532|PMID:28554332|PMID:29296277|PMID:30676711|PMID:32074998 12097013 PPP2R5D protein phosphatase 2 regulatory subunit B'delta gene DOID:905 Zellweger syndrome ISO RGD:1315410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12097013 PPP2R5D protein phosphatase 2 regulatory subunit B'delta gene DOID:936 brain disease ISO RGD:1315410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868 12097033 LOXL3 lysyl oxidase like 3 gene DOID:0070000 3-methylglutaconic aciduria type 8 ISO RGD:1322239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 8 PMID:17576681|PMID:27208207|PMID:28492532|PMID:9536098 12097033 LOXL3 lysyl oxidase like 3 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1322239 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12097033 LOXL3 lysyl oxidase like 3 gene DOID:0080046 Stickler syndrome ISO RGD:1322239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stickler syndrome PMID:25741868|PMID:28492532|PMID:32531858 12097033 LOXL3 lysyl oxidase like 3 gene DOID:543 dystonia ISO RGD:1322239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12097033 LOXL3 lysyl oxidase like 3 gene DOID:630 genetic disease ISO RGD:1322239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12097033 LOXL3 lysyl oxidase like 3 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1322239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12097033 LOXL3 lysyl oxidase like 3 gene DOID:9002859 Parkinson's Disease 13 ISO RGD:1322239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to PMID:15961413|PMID:18364387|PMID:18790661|PMID:19118185|PMID:21163861|PMID:25422467|PMID:25741868|PMID:28492532 12097033 LOXL3 lysyl oxidase like 3 gene DOID:9004584 Myopia 28 ISO RGD:1322239 D RGD:7240710 20220316 OMIM 12097033 LOXL3 lysyl oxidase like 3 gene DOID:9004584 Myopia 28 ISO RGD:1322239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia 28, autosomal recessive PMID:26957899|PMID:28492532|PMID:33456446 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:0050469 Costello syndrome ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Costello syndrome | ClinVar Annotator: match by term: FCS syndrome PMID:10716188|PMID:11150980|PMID:12835555|PMID:1362901|PMID:15491620|PMID:15843272|PMID:16155195|PMID:16170316|PMID:16199547|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16474405|PMID:16478791|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16921267|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17576681|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19995790|PMID:20112233|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20949621|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21779495|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22256804|PMID:22317973|PMID:22318994|PMID:22420426|PMID:22488832|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23321623|PMID:23335589|PMID:23406027|PMID:23412389|PMID:23429430|PMID:23487764|PMID:23548900|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24259709|PMID:24390138|PMID:24728327|PMID:24803665|PMID:25070542|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25668678|PMID:25695684|PMID:25741868|PMID:25742471|PMID:25815234|PMID:25914166|PMID:26001911|PMID:26467025|PMID:26467218|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26633542|PMID:2674130|PMID:26778095|PMID:26806338|PMID:26888048|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27468687|PMID:27589201|PMID:28002430|PMID:28027064|PMID:28139825|PMID:28179458|PMID:28328122|PMID:28371260|PMID:28390077|PMID:28489335|PMID:28492532|PMID:29493581|PMID:2999610|PMID:3004741|PMID:30055033|PMID:30138938|PMID:3018526|PMID:30732632|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32313153|PMID:32371413|PMID:3283542|PMID:3304147|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6287572|PMID:6287573|PMID:6288698|PMID:6330729|PMID:7177195|PMID:8605880|PMID:8626650|PMID:8960317|PMID:9536098 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:0050729 neutral lipid storage disease ISO RGD:1604547 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:0060581 Noonan syndrome 3 ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:12727991|PMID:1904555|PMID:19855393|PMID:25157968|PMID:26619011|PMID:31775759|PMID:3510078 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:0080690 RASopathy ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25914166|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26916728|PMID:27102959|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:0080690 RASopathy ISO RGD:1604547 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RASopathy PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:0080690 RASopathy ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:0080773 delta beta-thalassemia ISO RGD:1604547 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:0111162 epidermal nevus ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC | ClinVar Annotator: match by term: Nevus sebaceous | ClinVar Annotator: match by term: Woolly hair nevus PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:0111359 large congenital melanocytic nevus ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Linear nevus sebaceous | ClinVar Annotator: match by term: Linear nevus sebaceous syndrome | ClinVar Annotator: match by term: Organoid nevus phakomatosis PMID:12835555|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:0111854 primary ciliary dyskinesia 39 ISO RGD:1604547 D RGD:7240710 20190315 OMIM 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:0111854 primary ciliary dyskinesia 39 ISO RGD:1604547 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 39 PMID:25741868|PMID:28492532|PMID:30388400 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:0111969 immunodeficiency 39 ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:12835555|PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19773371|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21850009|PMID:22256804|PMID:22499344|PMID:22683711|PMID:22726224|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27444071|PMID:28492532|PMID:29493581|PMID:31775759 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:1059 intellectual disability ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:11054 urinary bladder cancer ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:31394527|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:1107 esophageal carcinoma ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:1107 esophageal carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:14566 disease of cellular proliferation ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:1904555|PMID:19213030|PMID:19255327|PMID:19773371|PMID:21438134|PMID:21495179|PMID:21850009|PMID:23093928|PMID:23406027|PMID:23429430|PMID:24006476|PMID:24033266|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29493581|PMID:3510078 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:1909 melanoma ISO RGD:1604547 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:1909 melanoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:2394 ovarian cancer ISO RGD:1604547 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:2526 prostate adenocarcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:2671 transitional cell carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:3068 glioblastoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:3247 rhabdomyosarcoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22683711|PMID:23093928|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:3275 thymoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thymoma PMID:20859122|PMID:24224811|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27283355|PMID:31775759 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:3490 Noonan syndrome ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19773371|PMID:21438134|PMID:21495179|PMID:21850009|PMID:23093928|PMID:23406027|PMID:23429430|PMID:24033266|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26580448|PMID:26619011|PMID:28492532|PMID:29493581 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:363 uterine cancer ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:3717 gastric adenocarcinoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:3717 gastric adenocarcinoma ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:3717 gastric adenocarcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:12835555|PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:1904555|PMID:19213030|PMID:19255327|PMID:19773371|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21850009|PMID:22256804|PMID:22499344|PMID:22683711|PMID:22726224|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27444071|PMID:28492532|PMID:29493581|PMID:31775759|PMID:3510078 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:10716188|PMID:21779495|PMID:24033266|PMID:25741868|PMID:2674130|PMID:28492532|PMID:29493581|PMID:3004741|PMID:3283542|PMID:3304147|PMID:6287572|PMID:6287573|PMID:6288698 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:3910 lung adenocarcinoma ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:3910 lung adenocarcinoma ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892|PMID:3510078 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:3910 lung adenocarcinoma ISO RGD:1604547 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:3910 lung adenocarcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:4007 bladder carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Urinary bladder carcinoma PMID:16170316|PMID:16372351|PMID:16443854|PMID:16835863|PMID:17601930|PMID:18039947|PMID:18042262|PMID:19382114|PMID:21850009|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23429430|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28027064|PMID:28492532|PMID:31394527 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:4465 papillary renal cell carcinoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:4465 papillary renal cell carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1604547 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:5834 spermatocytoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatocytic seminoma PMID:12727991|PMID:19855393|PMID:25157968|PMID:31775759 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:6171 uterine carcinosarcoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:630 genetic disease ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17576681|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22683711|PMID:23093928|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24259709|PMID:24803665|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:8605880|PMID:9536098 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:6420 pulmonary valve stenosis ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:28492532 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:6536 plasma cell neoplasm ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:684 hepatocellular carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:7608 parathyroid adenoma ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Parathyroid adenoma PMID:25741868|PMID:35738466 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:8923 skin melanoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:8923 skin melanoma ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:8923 skin melanoma ISO RGD:1604547 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:8923 skin melanoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:25741868|PMID:35738466 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:12835555|PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19773371|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21850009|PMID:22256804|PMID:22499344|PMID:22683711|PMID:22726224|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27444071|PMID:28492532|PMID:29493581|PMID:31775759 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:9002650 Sebaceous Nevus Syndrome and Hemimegalencephaly ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly PMID:12835555|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salivary gland neoplasm PMID:17384584|PMID:19255327|PMID:19773371|PMID:23406027|PMID:24006476|PMID:25157968|PMID:25695684|PMID:25741868 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:9003571 Paraproteinemias ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16478791|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28489335|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:3018526|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:1604547 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:9005120 Pigmented Nevus ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PIGMENTED MOLES PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nasopharyngeal Neoplasms PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:9005820 Congenital Myopathy with Excess of Muscle Spindles ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with excess of muscle spindles PMID:11150980|PMID:1362901|PMID:15843272|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17384584|PMID:17412879|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19255327|PMID:19371735|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20979192|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:23406027|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25070542|PMID:25157968|PMID:25668678|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26001911|PMID:26467025|PMID:26619011|PMID:26778095|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8626650|PMID:8960317 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 2 | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:12727991|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:19855393|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:21403836|PMID:24033266|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26580448|PMID:28492532 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:21403836|PMID:24033266|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26580448|PMID:28492532|PMID:9536098 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:9008386 Hydrops Fetalis ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal edema PMID:12835555|PMID:16170316|PMID:16329078|PMID:16443854|PMID:17384584|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18642361|PMID:19255327|PMID:19773371|PMID:20658932|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25741868|PMID:26561417|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27444071|PMID:28371260|PMID:28492532|PMID:31222966|PMID:31775759 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16478791|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28371260|PMID:28489335|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:3018526|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:9008939 Breast Neoplasms ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:31394527|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:9538 multiple myeloma ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:9538 multiple myeloma ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:9538 multiple myeloma ISO RGD:1604547 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12097056 LRRC56 leucine rich repeat containing 56 gene DOID:9538 multiple myeloma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12097084 PLEKHA4 pleckstrin homology domain containing A4 gene DOID:10283 prostate cancer ISO RGD:1346745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12097084 PLEKHA4 pleckstrin homology domain containing A4 gene DOID:630 genetic disease ISO RGD:1346745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097109 MED26 mediator complex subunit 26 gene DOID:630 genetic disease ISO RGD:1352604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097126 OR52N4F olfactory receptor family 52 subfamily N member 4F gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1348757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12097126 OR52N4F olfactory receptor family 52 subfamily N member 4F gene DOID:630 genetic disease ISO RGD:1348757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097129 HIP1R huntingtin interacting protein 1 related gene DOID:0060224 atrial fibrillation ISO RGD:733372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12097129 HIP1R huntingtin interacting protein 1 related gene DOID:630 genetic disease ISO RGD:733372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097164 SLC25A28 solute carrier family 25 member 28 gene DOID:630 genetic disease ISO RGD:1312988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097175 MEPCE methylphosphate capping enzyme gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12097175 MEPCE methylphosphate capping enzyme gene DOID:630 genetic disease ISO RGD:1603022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097183 TGFBR3 transforming growth factor beta receptor 3 gene DOID:0080600 COVID-19 ISO RGD:736539 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12097183 TGFBR3 transforming growth factor beta receptor 3 gene DOID:10283 prostate cancer ISO RGD:736539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12097183 TGFBR3 transforming growth factor beta receptor 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:736539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 12097183 TGFBR3 transforming growth factor beta receptor 3 gene DOID:2870 endometrial adenocarcinoma ISO RGD:736539 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium PMID:15745937|REF_RGD_ID:1579943 12097183 TGFBR3 transforming growth factor beta receptor 3 gene DOID:5223 infertility ISO RGD:736539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infertility PMID:23265383 12097183 TGFBR3 transforming growth factor beta receptor 3 gene DOID:630 genetic disease ISO RGD:736539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23265383 12097183 TGFBR3 transforming growth factor beta receptor 3 gene DOID:65 connective tissue disease ISO RGD:736539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 12097208 DCP1A decapping mRNA 1A gene DOID:630 genetic disease ISO RGD:1350050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097225 WBP2 WW domain binding protein 2 gene DOID:0080262 autosomal recessive nonsyndromic deafness 107 ISO RGD:1348215 D RGD:7240710 20190315 OMIM 12097225 WBP2 WW domain binding protein 2 gene DOID:0080262 autosomal recessive nonsyndromic deafness 107 ISO RGD:1348215 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 107 PMID:25741868|PMID:26881968|PMID:28492532 12097225 WBP2 WW domain binding protein 2 gene DOID:630 genetic disease ISO RGD:1348215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12097243 TUSC2 tumor suppressor 2, mitochondrial calcium regulator gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12097243 TUSC2 tumor suppressor 2, mitochondrial calcium regulator gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12097243 TUSC2 tumor suppressor 2, mitochondrial calcium regulator gene DOID:630 genetic disease ISO RGD:1343391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097243 TUSC2 tumor suppressor 2, mitochondrial calcium regulator gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12097258 C33H3orf52 chromosome 33 C3orf52 homolog gene DOID:630 genetic disease ISO RGD:1606226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097258 C33H3orf52 chromosome 33 C3orf52 homolog gene DOID:9001132 Hypotrichosis 15 ISO RGD:1606226 D RGD:7240710 20230104 OMIM 12097258 C33H3orf52 chromosome 33 C3orf52 homolog gene DOID:9001132 Hypotrichosis 15 ISO RGD:1606226 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypotrichosis 15 PMID:32336749|PMID:34309526 12097270 LOC100686511 myeloid cell surface antigen CD33 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1347694 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:16510302|PMID:23785301|PMID:28492532 12097270 LOC100686511 myeloid cell surface antigen CD33 gene DOID:10652 Alzheimer's disease ISO RGD:1347694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21460840|PMID:21460841 12097270 LOC100686511 myeloid cell surface antigen CD33 gene DOID:630 genetic disease ISO RGD:1347694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097270 LOC100686511 myeloid cell surface antigen CD33 gene DOID:9119 acute myeloid leukemia ISO RGD:1347694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12921496 12097282 C5H16orf46 chromosome 5 C16orf46 homolog gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1345260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 12097282 C5H16orf46 chromosome 5 C16orf46 homolog gene DOID:630 genetic disease ISO RGD:1345260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097300 PRDX2 peroxiredoxin 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:733019 D RGD:9068941 20220908 RGD protein:increased expression:saliva PMID:29199150|REF_RGD_ID:153350131 12097300 PRDX2 peroxiredoxin 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:733019 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12097300 PRDX2 peroxiredoxin 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:733019 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12097300 PRDX2 peroxiredoxin 2 gene DOID:0111254 glutaric acidemia I ISO RGD:733019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12097300 PRDX2 peroxiredoxin 2 gene DOID:10320 asbestosis ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22537621 12097300 PRDX2 peroxiredoxin 2 gene DOID:14250 Down syndrome ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11771762 12097300 PRDX2 peroxiredoxin 2 gene DOID:1909 melanoma ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 12097300 PRDX2 peroxiredoxin 2 gene DOID:305 carcinoma ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12097300 PRDX2 peroxiredoxin 2 gene DOID:3347 osteosarcoma ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23911960 12097300 PRDX2 peroxiredoxin 2 gene DOID:3413 alpha-mannosidosis ISO RGD:733019 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12097300 PRDX2 peroxiredoxin 2 gene DOID:630 genetic disease ISO RGD:733019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097300 PRDX2 peroxiredoxin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12097300 PRDX2 peroxiredoxin 2 gene DOID:8692 myeloid leukemia ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16932348 12097300 PRDX2 peroxiredoxin 2 gene DOID:9000058 Keloid ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12097300 PRDX2 peroxiredoxin 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 12097300 PRDX2 peroxiredoxin 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12097300 PRDX2 peroxiredoxin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 12097300 PRDX2 peroxiredoxin 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23911960 12097300 PRDX2 peroxiredoxin 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12097300 PRDX2 peroxiredoxin 2 gene DOID:9256 colorectal cancer disease_progression ISO RGD:733019 D RGD:9068941 20220909 RGD PMID:23393224|REF_RGD_ID:153350137 12097421 SLCO1B3 solute carrier organic anion transporter family member 1B3 gene DOID:10283 prostate cancer disease_progression ISO RGD:1350750 D RGD:9068941 20220623 RGD mRNA,protein:increased expression:prostate (human) PMID:21625523|REF_RGD_ID:152995425 12097421 SLCO1B3 solute carrier organic anion transporter family member 1B3 gene DOID:1324 lung cancer ISO RGD:1350750 D RGD:9068941 20220623 RGD mRNA:increased expression:lung (human) PMID:25625007|REF_RGD_ID:152995427 12097421 SLCO1B3 solute carrier organic anion transporter family member 1B3 gene DOID:13580 cholestasis ISO RGD:69300 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hepatocyte PMID:17916651|REF_RGD_ID:2303109 12097421 SLCO1B3 solute carrier organic anion transporter family member 1B3 gene DOID:1520 colon carcinoma ISO RGD:1350750 D RGD:9068941 20220623 RGD mRNA,protein:increased expression:colon (human) PMID:19074900|REF_RGD_ID:152995419 12097421 SLCO1B3 solute carrier organic anion transporter family member 1B3 gene DOID:219 colon cancer disease_progression ISO RGD:1350750 D RGD:9068941 20220623 RGD mRNA:increased expression:colon (human) PMID:25625007|REF_RGD_ID:152995427 12097421 SLCO1B3 solute carrier organic anion transporter family member 1B3 gene DOID:2394 ovarian cancer ISO RGD:1350750 D RGD:9068941 20220623 RGD mRNA:increased expression:overy (human) PMID:29577869|REF_RGD_ID:152995440 12097421 SLCO1B3 solute carrier organic anion transporter family member 1B3 gene DOID:2739 Gilbert syndrome ISO RGD:1350750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gilbert syndrome 12097421 SLCO1B3 solute carrier organic anion transporter family member 1B3 gene DOID:2741 bilirubin metabolic disorder ISO RGD:732053 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18296417 12097421 SLCO1B3 solute carrier organic anion transporter family member 1B3 gene DOID:2998 testicular cancer ISO RGD:1350750 D RGD:9068941 20220623 RGD mRNA:decreased expression:testis (human) PMID:21625523|REF_RGD_ID:152995425 12097421 SLCO1B3 solute carrier organic anion transporter family member 1B3 gene DOID:3007 breast ductal carcinoma disease_progression ISO RGD:1350750 D RGD:9068941 20220617 RGD protein:decreased expression:breast (human) PMID:17760952|REF_RGD_ID:152995410 12097421 SLCO1B3 solute carrier organic anion transporter family member 1B3 gene DOID:3571 liver cancer ISO RGD:732053 D RGD:9068941 20220623 RGD mRNA:decreased expression:liver (mouse) PMID:25319454|REF_RGD_ID:152995431 12097421 SLCO1B3 solute carrier organic anion transporter family member 1B3 gene DOID:630 genetic disease ISO RGD:1350750 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12097421 SLCO1B3 solute carrier organic anion transporter family member 1B3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1350750 D RGD:9068941 20220623 RGD protein:decreased expression:liver (human) PMID:21626360|REF_RGD_ID:152995417 12097421 SLCO1B3 solute carrier organic anion transporter family member 1B3 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1350750 D RGD:9068941 20220623 RGD mRNA,protein:decreased expression:liver (human) PMID:32534581|REF_RGD_ID:152995423 12097421 SLCO1B3 solute carrier organic anion transporter family member 1B3 gene DOID:9000722 Animal Hepatitis ISO RGD:69300 D RGD:9068941 20200609 RGD PMID:12127424|REF_RGD_ID:2303132 12097421 SLCO1B3 solute carrier organic anion transporter family member 1B3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69300 D RGD:9068941 20200609 RGD associated with Colonic Neoplasms;protein:decreased expression:liver PMID:16895976|REF_RGD_ID:2302565 12097421 SLCO1B3 solute carrier organic anion transporter family member 1B3 gene DOID:9002928 Colonic Neoplasms ISO RGD:1350750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22326869|PMID:25625007 12097421 SLCO1B3 solute carrier organic anion transporter family member 1B3 gene DOID:9004009 Reperfusion Injury ISO RGD:69300 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:16858290|REF_RGD_ID:2303111 12097421 SLCO1B3 solute carrier organic anion transporter family member 1B3 gene DOID:9004351 Digestive System Neoplasms severity ISO RGD:1350750 D RGD:9068941 20220623 RGD protein:increased expression:colon,rectum,pancreas (human) PMID:25611302|REF_RGD_ID:152995429 12097421 SLCO1B3 solute carrier organic anion transporter family member 1B3 gene DOID:9004484 Sepsis ISO RGD:69300 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:10500057|REF_RGD_ID:631887 12097421 SLCO1B3 solute carrier organic anion transporter family member 1B3 gene DOID:9004486 Drug-induced Neutropenia no_association ISO RGD:1350750 D RGD:9068941 20200609 RGD associated with neoplasm;DNA:SNP: rs11045585(human) PMID:23188068|REF_RGD_ID:11080999 12097421 SLCO1B3 solute carrier organic anion transporter family member 1B3 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:1350750 D RGD:9068941 20200609 RGD associated with neoplasm;DNA:SNP:rs11045585(human) PMID:18294295|REF_RGD_ID:11080980 12097421 SLCO1B3 solute carrier organic anion transporter family member 1B3 gene DOID:9005094 Hereditary Hyperbilirubinemia ISO RGD:1350750 D RGD:7240710 20180131 OMIM 12097421 SLCO1B3 solute carrier organic anion transporter family member 1B3 gene DOID:9005094 Hereditary Hyperbilirubinemia ISO RGD:1350750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rotor syndrome PMID:21278621|PMID:22232210|PMID:25546334|PMID:25741868|PMID:27040692|PMID:27296017|PMID:27582484|PMID:28492532|PMID:30366773|PMID:32082363 12097421 SLCO1B3 solute carrier organic anion transporter family member 1B3 gene DOID:9005172 Lung Neoplasms ISO RGD:1350750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22326869|PMID:25625007 12097421 SLCO1B3 solute carrier organic anion transporter family member 1B3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29491222 12097421 SLCO1B3 solute carrier organic anion transporter family member 1B3 gene DOID:9253 gastrointestinal stromal tumor treatment ISO RGD:1350750 D RGD:9068941 20220623 RGD DNA:SNP:: (rs4149117) (human) PMID:29054076|REF_RGD_ID:152995424 12097421 SLCO1B3 solute carrier organic anion transporter family member 1B3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1350750 D RGD:9068941 20220623 RGD protein:increased expression:colorectum (human) PMID:21677819|REF_RGD_ID:152995437 12097454 BMP5 bone morphogenetic protein 5 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1314331 D RGD:9068941 20220825 MouseDO OMIM:224690 | OMIM:613800 | OMIM:613803 | OMIM:613804 | OMIM:613805 12097454 BMP5 bone morphogenetic protein 5 gene DOID:630 genetic disease ISO RGD:1314330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097465 COPG2 COPI coat complex subunit gamma 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12097465 COPG2 COPI coat complex subunit gamma 2 gene DOID:630 genetic disease ISO RGD:1347391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097465 COPG2 COPI coat complex subunit gamma 2 gene DOID:9004657 Weight Gain ISO RGD:1347391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12097506 PRKAR2B protein kinase cAMP-dependent type II regulatory subunit beta gene DOID:2999 granulosa cell tumor ISO RGD:735310 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01) PMID:11994539|REF_RGD_ID:2289157 12097506 PRKAR2B protein kinase cAMP-dependent type II regulatory subunit beta gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12097506 PRKAR2B protein kinase cAMP-dependent type II regulatory subunit beta gene DOID:6000 congestive heart failure ISO RGD:735310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 12097506 PRKAR2B protein kinase cAMP-dependent type II regulatory subunit beta gene DOID:630 genetic disease ISO RGD:735310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097506 PRKAR2B protein kinase cAMP-dependent type II regulatory subunit beta gene DOID:9970 obesity ISO RGD:735310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20975297 12097528 SEMA3D semaphorin 3D gene DOID:0050834 CHARGE syndrome ISO RGD:1348225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 12097528 SEMA3D semaphorin 3D gene DOID:10003 sensorineural hearing loss ISO RGD:1348225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 12097528 SEMA3D semaphorin 3D gene DOID:10487 Hirschsprung's disease ISO RGD:1348225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:28492532 12097528 SEMA3D semaphorin 3D gene DOID:1826 epilepsy ISO RGD:1348225 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 12097528 SEMA3D semaphorin 3D gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12097528 SEMA3D semaphorin 3D gene DOID:630 genetic disease ISO RGD:1348225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097555 EIF3K eukaryotic translation initiation factor 3 subunit K gene DOID:630 genetic disease ISO RGD:1342979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097567 DYRK4 dual specificity tyrosine phosphorylation regulated kinase 4 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1351667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 12097567 DYRK4 dual specificity tyrosine phosphorylation regulated kinase 4 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1351667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12097567 DYRK4 dual specificity tyrosine phosphorylation regulated kinase 4 gene DOID:630 genetic disease ISO RGD:1351667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097567 DYRK4 dual specificity tyrosine phosphorylation regulated kinase 4 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1351667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12097610 CCL23 chemokine (C-C motif) ligand 23 gene DOID:1790 malignant mesothelioma ISO RGD:1348813 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 12097610 CCL23 chemokine (C-C motif) ligand 23 gene DOID:630 genetic disease ISO RGD:1348813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097618 ZFAND3 zinc finger AN1-type containing 3 gene DOID:630 genetic disease ISO RGD:1316115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097618 ZFAND3 zinc finger AN1-type containing 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1316115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12097618 ZFAND3 zinc finger AN1-type containing 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1316115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158537 12097639 RPL7L1 ribosomal protein L7 like 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1352288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12097639 RPL7L1 ribosomal protein L7 like 1 gene DOID:630 genetic disease ISO RGD:1352288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097639 RPL7L1 ribosomal protein L7 like 1 gene DOID:905 Zellweger syndrome ISO RGD:1352288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12097653 CACNG6 calcium voltage-gated channel auxiliary subunit gamma 6 gene DOID:0080822 aspirin-induced respiratory disease susceptibility ISO RGD:735845 D RGD:9068941 20200609 RGD DNA:SNP,haplotype:rs192808(human) PMID:20860846|REF_RGD_ID:13524562 12097653 CACNG6 calcium voltage-gated channel auxiliary subunit gamma 6 gene DOID:630 genetic disease ISO RGD:735845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097662 CAND2 cullin associated and neddylation dissociated 2 (putative) gene DOID:0060224 atrial fibrillation ISO RGD:733192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12097662 CAND2 cullin associated and neddylation dissociated 2 (putative) gene DOID:0060224 atrial fibrillation no_association ISO RGD:733192 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs4642101 (human) PMID:29459676|REF_RGD_ID:18899563 12097662 CAND2 cullin associated and neddylation dissociated 2 (putative) gene DOID:630 genetic disease ISO RGD:733192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097662 CAND2 cullin associated and neddylation dissociated 2 (putative) gene DOID:9001136 Familial Cerebral Cavernous Malformation ISO RGD:1551563 D RGD:9068941 20200609 RGD PMID:31426861|REF_RGD_ID:18899564 12097662 CAND2 cullin associated and neddylation dissociated 2 (putative) gene DOID:9008652 Postoperative Atrial Fibrillation ISO RGD:733192 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs4642101 (human) PMID:27203392|REF_RGD_ID:18899562 12097688 OR52N4 olfactory receptor family 52 subfamily N member 4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1352153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12097688 OR52N4 olfactory receptor family 52 subfamily N member 4 gene DOID:630 genetic disease ISO RGD:1352153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097691 ANKRD22 ankyrin repeat domain 22 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1317302 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:18456716|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9467011 12097691 ANKRD22 ankyrin repeat domain 22 gene DOID:630 genetic disease ISO RGD:1317302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097691 ANKRD22 ankyrin repeat domain 22 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1317302 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 12097704 FRMPD2 FERM and PDZ domain containing 2 gene DOID:11372 megacolon ISO RGD:1349524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12097704 FRMPD2 FERM and PDZ domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1349524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12097704 FRMPD2 FERM and PDZ domain containing 2 gene DOID:630 genetic disease ISO RGD:1349524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097737 MCU mitochondrial calcium uniporter gene DOID:630 genetic disease ISO RGD:1343502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097752 RNF26 ring finger protein 26 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1314288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12097752 RNF26 ring finger protein 26 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1314288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12097752 RNF26 ring finger protein 26 gene DOID:0080690 RASopathy ISO RGD:1314288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12097752 RNF26 ring finger protein 26 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1314288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12097752 RNF26 ring finger protein 26 gene DOID:0111971 immunodeficiency 18 ISO RGD:1314288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12097752 RNF26 ring finger protein 26 gene DOID:0111972 immunodeficiency 19 ISO RGD:1314288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12097752 RNF26 ring finger protein 26 gene DOID:0111973 immunodeficiency 17 ISO RGD:1314288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12097752 RNF26 ring finger protein 26 gene DOID:5419 schizophrenia ISO RGD:1314288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12097752 RNF26 ring finger protein 26 gene DOID:630 genetic disease ISO RGD:1314288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097752 RNF26 ring finger protein 26 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1314288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12097752 RNF26 ring finger protein 26 gene DOID:9007661 Dwarfism ISO RGD:1314288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12097757 TP53BP2 tumor protein p53 binding protein 2 gene DOID:0050938 breast lobular carcinoma ISO RGD:1313500 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 12097757 TP53BP2 tumor protein p53 binding protein 2 gene DOID:0060412 chromosome 1q41-q42 deletion syndrome ISO RGD:1313501 D RGD:9068941 20220825 MouseDO OMIM:612530 12097757 TP53BP2 tumor protein p53 binding protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1313500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12097757 TP53BP2 tumor protein p53 binding protein 2 gene DOID:630 genetic disease ISO RGD:1313500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097757 TP53BP2 tumor protein p53 binding protein 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1313500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 12097757 TP53BP2 tumor protein p53 binding protein 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1313500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 12097757 TP53BP2 tumor protein p53 binding protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12097785 CCR7 C-C motif chemokine receptor 7 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1347245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 12097785 CCR7 C-C motif chemokine receptor 7 gene DOID:0080600 COVID-19 ISO RGD:1347245 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 12097785 CCR7 C-C motif chemokine receptor 7 gene DOID:12894 Sjogren's syndrome ISO RGD:1553451 D RGD:9068941 20220825 MouseDO OMIM:270150 12097785 CCR7 C-C motif chemokine receptor 7 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1347245 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:12626344|REF_RGD_ID:5130912 12097785 CCR7 C-C motif chemokine receptor 7 gene DOID:13564 aspergillosis ISO RGD:1553451 D RGD:9068941 20200609 RGD associated with Neutropenia PMID:19783686|REF_RGD_ID:5130908 12097785 CCR7 C-C motif chemokine receptor 7 gene DOID:1824 status epilepticus ISO RGD:1347245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17181556 12097785 CCR7 C-C motif chemokine receptor 7 gene DOID:2841 asthma ISO RGD:1553451 D RGD:9068941 20200609 RGD protein:increased expression:lung, dendritic cell (mouse) PMID:19917684|REF_RGD_ID:8549811 12097785 CCR7 C-C motif chemokine receptor 7 gene DOID:552 pneumonia ISO RGD:1347245 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:16394278|REF_RGD_ID:5130919 12097785 CCR7 C-C motif chemokine receptor 7 gene DOID:630 genetic disease ISO RGD:1347245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097785 CCR7 C-C motif chemokine receptor 7 gene DOID:874 bacterial pneumonia ISO RGD:1553451 D RGD:9068941 20200609 RGD PMID:20176793|REF_RGD_ID:5130918 12097785 CCR7 C-C motif chemokine receptor 7 gene DOID:8778 Crohn's disease ISO RGD:1347245 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 12097793 LOC491820 family with sequence similarity 47, member E pseudogene gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12097793 LOC491820 family with sequence similarity 47, member E pseudogene gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1605768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 12097793 LOC491820 family with sequence similarity 47, member E pseudogene gene DOID:12849 autistic disorder ISO RGD:1605768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12097793 LOC491820 family with sequence similarity 47, member E pseudogene gene DOID:630 genetic disease ISO RGD:1605768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097793 LOC491820 family with sequence similarity 47, member E pseudogene gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12097793 LOC491820 family with sequence similarity 47, member E pseudogene gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1605768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 12097794 CCDC54 coiled-coil domain containing 54 gene DOID:630 genetic disease ISO RGD:1606758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097819 SENP3 SUMO specific peptidase 3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1323815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12097819 SENP3 SUMO specific peptidase 3 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1323815 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12097819 SENP3 SUMO specific peptidase 3 gene DOID:12177 common variable immunodeficiency ISO RGD:1323815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12097819 SENP3 SUMO specific peptidase 3 gene DOID:2661 myoepithelioma ISO RGD:1323815 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12097819 SENP3 SUMO specific peptidase 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1323815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12097819 SENP3 SUMO specific peptidase 3 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1323815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12097819 SENP3 SUMO specific peptidase 3 gene DOID:630 genetic disease ISO RGD:1323815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097834 MTREX Mtr4 exosome RNA helicase gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1606819 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood lymphocyte (human) PMID:23006766|REF_RGD_ID:11041891 12097834 MTREX Mtr4 exosome RNA helicase gene DOID:630 genetic disease ISO RGD:1606819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097834 MTREX Mtr4 exosome RNA helicase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12097834 MTREX Mtr4 exosome RNA helicase gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1606819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12097865 MRPS7 mitochondrial ribosomal protein S7 gene DOID:0111497 combined oxidative phosphorylation deficiency 34 ISO RGD:1319351 D RGD:7240710 20190315 OMIM 12097865 MRPS7 mitochondrial ribosomal protein S7 gene DOID:0111497 combined oxidative phosphorylation deficiency 34 ISO RGD:1319351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 34 PMID:25556185|PMID:25741868|PMID:28492532|PMID:9063420 12097865 MRPS7 mitochondrial ribosomal protein S7 gene DOID:10003 sensorineural hearing loss ISO RGD:1319351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:28492532 12097865 MRPS7 mitochondrial ribosomal protein S7 gene DOID:630 genetic disease ISO RGD:1319351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12097865 MRPS7 mitochondrial ribosomal protein S7 gene DOID:9008939 Breast Neoplasms ISO RGD:1319351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12097874 CYHR1 cysteine and histidine rich 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1344193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12097874 CYHR1 cysteine and histidine rich 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1344193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12097874 CYHR1 cysteine and histidine rich 1 gene DOID:1059 intellectual disability ISO RGD:1344193 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability PMID:30787422 12097874 CYHR1 cysteine and histidine rich 1 gene DOID:4621 holoprosencephaly ISO RGD:1344193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12097874 CYHR1 cysteine and histidine rich 1 gene DOID:630 genetic disease ISO RGD:1344193 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097884 NECAB1 N-terminal EF-hand calcium binding protein 1 gene DOID:630 genetic disease ISO RGD:1342968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097899 HCST hematopoietic cell signal transducer gene DOID:0110222 Brugada syndrome 5 ISO RGD:1350033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12097899 HCST hematopoietic cell signal transducer gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1350033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12097899 HCST hematopoietic cell signal transducer gene DOID:630 genetic disease ISO RGD:1350033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097931 COA8 cytochrome c oxidase assembly factor 8 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1312327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12097931 COA8 cytochrome c oxidase assembly factor 8 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1312327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:25175347|PMID:25741868|PMID:28492532 12097931 COA8 cytochrome c oxidase assembly factor 8 gene DOID:630 genetic disease ISO RGD:1312327 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12097931 COA8 cytochrome c oxidase assembly factor 8 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1312327 D RGD:7240710 20201111 OMIM 12097931 COA8 cytochrome c oxidase assembly factor 8 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1312327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:28492532|PMID:29577824|PMID:30724636 12097931 COA8 cytochrome c oxidase assembly factor 8 gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:1312327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:25175347|PMID:25741868|PMID:28492532 12097940 DNAJC14 DnaJ heat shock protein family (Hsp40) member C14 gene DOID:630 genetic disease ISO RGD:1349604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097955 LOC100855540 hemoglobin subunit alpha-like gene DOID:0110031 hemoglobin H disease ISO RGD:1351471 D RGD:7240710 20180130 OMIM 12097955 LOC100855540 hemoglobin subunit alpha-like gene DOID:0110031 hemoglobin H disease ISO RGD:1351471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hemoglobin H disease | ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional PMID:10569720|PMID:11410420|PMID:15182058|PMID:1686260|PMID:1787098|PMID:19636270|PMID:20147853|PMID:21599435|PMID:24081251|PMID:24200101|PMID:25342395|PMID:25741868|PMID:25818820|PMID:25897478|PMID:26193976|PMID:26467025|PMID:26715484|PMID:27173219|PMID:27207683|PMID:27577202|PMID:28125089|PMID:28506685|PMID:29477874|PMID:29749692|PMID:31111755|PMID:31113390|PMID:3384694|PMID:6153381|PMID:8237999|PMID:9029003 12097955 LOC100855540 hemoglobin subunit alpha-like gene DOID:0111363 Heinz body anemia ISO RGD:1351471 D RGD:7240710 20180130 OMIM 12097955 LOC100855540 hemoglobin subunit alpha-like gene DOID:0111363 Heinz body anemia ISO RGD:1351471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Heinz body anemia PMID:11074535|PMID:11410420|PMID:12403490|PMID:15182058|PMID:16798638|PMID:1686260|PMID:17486500|PMID:1787098|PMID:18420733|PMID:19349619|PMID:21599435|PMID:21950764|PMID:22738642|PMID:24081251|PMID:24111644|PMID:24200101|PMID:25741868|PMID:25818820|PMID:25897478|PMID:26193976|PMID:26329872|PMID:26467025|PMID:26485748|PMID:26715484|PMID:27207683|PMID:27577202|PMID:28125089|PMID:2833478|PMID:28506685|PMID:29477874|PMID:31111755|PMID:31113390|PMID:31693295|PMID:3384694|PMID:5639009|PMID:6153381|PMID:7470621|PMID:7558871|PMID:8251382 12097955 LOC100855540 hemoglobin subunit alpha-like gene DOID:0111631 familial erythrocytosis 7 ISO RGD:1351471 D RGD:7240710 20190315 OMIM 12097955 LOC100855540 hemoglobin subunit alpha-like gene DOID:0111631 familial erythrocytosis 7 ISO RGD:1351471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ERYTHROCYTOSIS 7 PMID:11123|PMID:11410420|PMID:1390944|PMID:1428951|PMID:1517114|PMID:15182058|PMID:1634355|PMID:1686260|PMID:1787098|PMID:21599435|PMID:2268670|PMID:24081251|PMID:24200101|PMID:25741868|PMID:25818820|PMID:25897478|PMID:26193976|PMID:26467025|PMID:26715484|PMID:27207683|PMID:27577202|PMID:28125089|PMID:28506685|PMID:29477874|PMID:31111755|PMID:31113390|PMID:3142772|PMID:3384694|PMID:3583768|PMID:3667323|PMID:3718876|PMID:5913291|PMID:5967288|PMID:5988206|PMID:6153381|PMID:6188720|PMID:701083|PMID:701092|PMID:7213661|PMID:7518430|PMID:8745434|PMID:9494049 12097955 LOC100855540 hemoglobin subunit alpha-like gene DOID:10241 thalassemia ISO RGD:1351471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN TUNIS-BIZERTE PMID:7786798 12097955 LOC100855540 hemoglobin subunit alpha-like gene DOID:10783 methemoglobinemia ISO RGD:1351471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3026948 12097955 LOC100855540 hemoglobin subunit alpha-like gene DOID:1099 alpha thalassemia ISO RGD:1351471 D RGD:7240710 20180130 OMIM 12097955 LOC100855540 hemoglobin subunit alpha-like gene DOID:1099 alpha thalassemia ISO RGD:1351471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN PETAH TIKVA | ClinVar Annotator: match by term: alpha Thalassemia PMID:10569720|PMID:10602170|PMID:11017952|PMID:11074535|PMID:11410420|PMID:11558897|PMID:12393486|PMID:12403490|PMID:13500096|PMID:13510789|PMID:13536534|PMID:13703277|PMID:13863929|PMID:1428945|PMID:1487419|PMID:14978697|PMID:15008259|PMID:15182058|PMID:15365991|PMID:1553958|PMID:15650030|PMID:16590776|PMID:16798638|PMID:1686260|PMID:17486500|PMID:1787098|PMID:18420733|PMID:19349619|PMID:19636270|PMID:20144601|PMID:20147853|PMID:20154289|PMID:20615730|PMID:21045395|PMID:21599435|PMID:21950764|PMID:2197725|PMID:22638758|PMID:22738642|PMID:22924376|PMID:2318293|PMID:23402770|PMID:23590659|PMID:23668236|PMID:23806041|PMID:24025420|PMID:24081251|PMID:24111644|PMID:24200101|PMID:24432778|PMID:24826792|PMID:24870139|PMID:25109349|PMID:25342395|PMID:25354131|PMID:25370869|PMID:2544542|PMID:2566576|PMID:25669128|PMID:25741868|PMID:25818820|PMID:25897478|PMID:26114741|PMID:26193976|PMID:26329872|PMID:26467025|PMID:26485748|PMID:26635043|PMID:26715484|PMID:26878087|PMID:26911300|PMID:27173219|PMID:27207683|PMID:27577202|PMID:27821014|PMID:28125089|PMID:28506685|PMID:28526955|PMID:28791910|PMID:2882671|PMID:28865746|PMID:29477874|PMID:29484903|PMID:29749692|PMID:2986746|PMID:30864493|PMID:31111755|PMID:31113390|PMID:31304855|PMID:31553106|PMID:31693295|PMID:3191033|PMID:32448026|PMID:32597250|PMID:32769347|PMID:33059511|PMID:3384694|PMID:33887194|PMID:3583768|PMID:3754245|PMID:3793931|PMID:4503918|PMID:4503919|PMID:4646552|PMID:4986187|PMID:508945|PMID:5169069|PMID:5288820|PMID:538560|PMID:5410724|PMID:5460202|PMID:5475469|PMID:5870555|PMID:5960254|PMID:6153381|PMID:6158051|PMID:6255436|PMID:640847|PMID:646867|PMID:6725558|PMID:6882779|PMID:7068434|PMID:7440717|PMID:7448125|PMID:7470621|PMID:7639274|PMID:7786798|PMID:7803274|PMID:7910813|PMID:8192150|PMID:8237999|PMID:8251382|PMID:8460633|PMID:8745434|PMID:8781536|PMID:9029003|PMID:9099846|PMID:949043 12097955 LOC100855540 hemoglobin subunit alpha-like gene DOID:12241 beta thalassemia ISO RGD:1351471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN Q (INDIA) PMID:21045395|PMID:25354131|PMID:26467025|PMID:27207683|PMID:28526955|PMID:31553106|PMID:32448026|PMID:32597250|PMID:32769347|PMID:33059511|PMID:33887194|PMID:4646552|PMID:7803274|PMID:949043 12097955 LOC100855540 hemoglobin subunit alpha-like gene DOID:2355 anemia ISO RGD:1351471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868|PMID:5639009|PMID:7558871 12097955 LOC100855540 hemoglobin subunit alpha-like gene DOID:2860 hemoglobinopathy ISO RGD:1351471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN ADANA | ClinVar Annotator: match by term: HEMOGLOBIN AGHIA SOPHIA | ClinVar Annotator: match by term: HEMOGLOBIN BUFFALO | ClinVar Annotator: match by term: HEMOGLOBIN HOPKINS 2 | ClinVar Annotator: match by term: HEMOGLOBIN J (BROUSSAIS) | ClinVar Annotator: match by term: HEMOGLOBIN OLIVIERE PMID:10569720|PMID:11558897|PMID:12403494|PMID:13500096|PMID:13536534|PMID:13863929|PMID:15481890|PMID:16590776|PMID:19636270|PMID:20147853|PMID:25342395|PMID:26467025|PMID:27173219|PMID:29749692|PMID:4503918|PMID:4503919|PMID:4986187|PMID:5288820|PMID:5452727|PMID:646867|PMID:740406|PMID:8237999|PMID:9029003|PMID:943846 12097955 LOC100855540 hemoglobin subunit alpha-like gene DOID:305 carcinoma ISO RGD:1351471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12097955 LOC100855540 hemoglobin subunit alpha-like gene DOID:3526 cerebral infarction ISO RGD:1351471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1634355 12097955 LOC100855540 hemoglobin subunit alpha-like gene DOID:630 genetic disease ISO RGD:1351471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12097955 LOC100855540 hemoglobin subunit alpha-like gene DOID:8432 polycythemia ISO RGD:1351471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN G (PEST) PMID:2227935|PMID:25818820|PMID:26467025|PMID:26635043|PMID:4550395|PMID:6814490|PMID:893135 12097955 LOC100855540 hemoglobin subunit alpha-like gene DOID:8997 polycythemia vera ISO RGD:1351471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1634355 12097955 LOC100855540 hemoglobin subunit alpha-like gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1351471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12097955 LOC100855540 hemoglobin subunit alpha-like gene DOID:9001201 Methemoglobinemia, Alpha-Globin Type ISO RGD:1351471 D RGD:7240710 20180130 OMIM 12097955 LOC100855540 hemoglobin subunit alpha-like gene DOID:9001341 Chloracne ISO RGD:1351471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12097955 LOC100855540 hemoglobin subunit alpha-like gene DOID:9002652 Alpha-Thalassemia 2 ISO RGD:1351471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-thalassemia, Dutch type PMID:11791872 12097955 LOC100855540 hemoglobin subunit alpha-like gene DOID:9002953 Escherichia Coli Infections treatment ISO RGD:1351471 D RGD:9068941 20200609 RGD PMID:18786935|REF_RGD_ID:10449443 12097955 LOC100855540 hemoglobin subunit alpha-like gene DOID:9003343 Alpha-Thalassemia-2, Nondeletional ISO RGD:1351471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional PMID:10569720|PMID:19636270|PMID:20147853|PMID:25342395|PMID:26467025|PMID:27173219|PMID:29749692|PMID:8237999|PMID:9029003 12097955 LOC100855540 hemoglobin subunit alpha-like gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1351471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12097955 LOC100855540 hemoglobin subunit alpha-like gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734079 D RGD:9068941 20201203 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12097955 LOC100855540 hemoglobin subunit alpha-like gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16632892 12097967 MIR383 microRNA mir-383 gene DOID:3526 cerebral infarction treatment ISO RGD:2325533 D RGD:9068941 20200709 RGD PMID:28469772|REF_RGD_ID:35668865 12097967 MIR383 microRNA mir-383 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1348316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12097999 GARIN6 golgi associated RAB2 interactor family member 6 gene DOID:630 genetic disease ISO RGD:1606688 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098013 OR5B3 olfactory receptor family 5 subfamily B member 3 gene DOID:1059 intellectual disability ISO RGD:1354314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12098013 OR5B3 olfactory receptor family 5 subfamily B member 3 gene DOID:630 genetic disease ISO RGD:1354314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098029 CCDC89 coiled-coil domain containing 89 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1602421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 12098029 CCDC89 coiled-coil domain containing 89 gene DOID:1059 intellectual disability ISO RGD:1602421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12098029 CCDC89 coiled-coil domain containing 89 gene DOID:630 genetic disease ISO RGD:1602421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098034 COG7 component of oligomeric golgi complex 7 gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1349178 D RGD:7240710 20180130 OMIM 12098034 COG7 component of oligomeric golgi complex 7 gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1349178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:15107842|PMID:16199547|PMID:17356545|PMID:17395513|PMID:17576681|PMID:19577670|PMID:21811164|PMID:25741868|PMID:25741869|PMID:28492532|PMID:30653653|PMID:31785789|PMID:9536098 12098034 COG7 component of oligomeric golgi complex 7 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1349178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 12098034 COG7 component of oligomeric golgi complex 7 gene DOID:630 genetic disease ISO RGD:1349178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:30653653|PMID:9536098 12098034 COG7 component of oligomeric golgi complex 7 gene DOID:630 genetic disease susceptibility ISO RGD:1349178 D RGD:9068941 20200609 RGD congenital disorder of glycosylation, type IIe, OMIM:608779;DNA:transversion:intron:IVS1+4A>C PMID:15107842|REF_RGD_ID:1600879 12098055 GBA3 glucosylceramidase beta 3 gene DOID:303 substance-related disorder ISO RGD:1319930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12098055 GBA3 glucosylceramidase beta 3 gene DOID:630 genetic disease ISO RGD:1319930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098055 GBA3 glucosylceramidase beta 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1319930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12098075 BPIFA1 BPI fold containing family A member 1 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:736029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15513904 12098075 BPIFA1 BPI fold containing family A member 1 gene DOID:10754 otitis media ISO RGD:736030 D RGD:9068941 20220825 MouseDO OMIM:166760 12098075 BPIFA1 BPI fold containing family A member 1 gene DOID:630 genetic disease ISO RGD:736029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098075 BPIFA1 BPI fold containing family A member 1 gene DOID:9005372 Inflammation ISO RGD:8770878 D RGD:9068941 20200609 RGD PMID:20949060|REF_RGD_ID:11554178 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:0050902 medulloblastoma ISO RGD:736254 D RGD:7240710 20180130 OMIM 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:0050902 medulloblastoma ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:10644434|PMID:10660329|PMID:10790213|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:12065746|PMID:12373604|PMID:12655567|PMID:12845657|PMID:12955716|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15800311|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:17063270|PMID:17148771|PMID:17301269|PMID:17513806|PMID:17688236|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18703817|PMID:18704680|PMID:19016756|PMID:19241424|PMID:19491284|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21913181|PMID:21952622|PMID:22006311|PMID:22009639|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23199084|PMID:23318356|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23725378|PMID:23767878|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24504028|PMID:24528374|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25330149|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26657402|PMID:26681312|PMID:26689913|PMID:26834852|PMID:26845104|PMID:27153395|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28831036|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28993434|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29446198|PMID:29478780|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29575201|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29907814|PMID:29909963|PMID:29915322|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30630528|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30972954|PMID:31112363|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31411802|PMID:31447099|PMID:31589614|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32098980|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32853339|PMID:32875559|PMID:32885271|PMID:33087929|PMID:33372952|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33918338|PMID:34008015|PMID:34399810|PMID:34567246|PMID:35535697|PMID:36988593|PMID:8589730|PMID:8673090|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:0060074 ductal carcinoma in situ onset ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:missense mutation: :5972C>T PMID:16280055|REF_RGD_ID:2289048 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:0060074 ductal carcinoma in situ treatment ISO RGD:2219 D RGD:9068941 20210611 RGD PMID:25861310|REF_RGD_ID:127284854 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Growth hormone deficiency, isolated autosomal recessive PMID:24389050|PMID:25558065 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:0080171 esophageal atresia/tracheoesophageal fistula ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula PMID:11179017|PMID:11307153|PMID:11597388|PMID:15070707|PMID:15340362|PMID:15382066|PMID:16168118|PMID:16683254|PMID:17148771|PMID:17972171|PMID:18042939|PMID:19863560|PMID:20104584|PMID:20694749|PMID:20736950|PMID:21120943|PMID:21324516|PMID:23199084|PMID:23318356|PMID:23621881|PMID:24033266|PMID:24055113|PMID:24156927|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26295337|PMID:26467025|PMID:27741520|PMID:28008555|PMID:28294317|PMID:28423363|PMID:28492532|PMID:28724667|PMID:29161300|PMID:29339979|PMID:29360161|PMID:29446198|PMID:29478780|PMID:29907814|PMID:29909963|PMID:30274973|PMID:30702160|PMID:30720243|PMID:30787465|PMID:31174498|PMID:31447099|PMID:31825140|PMID:31837001|PMID:31957001|PMID:32029870|PMID:32101877|PMID:32190957|PMID:32318955|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32885271|PMID:33087929|PMID:33461583|PMID:33471991|PMID:34399810|PMID:8673090|PMID:9150172|PMID:9667259|PMID:9792861 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:0080199 colorectal carcinoma ISO RGD:736254 D RGD:9068941 20210521 RGD PMID:11497291|REF_RGD_ID:126925969 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:0080600 COVID-19 ISO RGD:736254 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:11802209|PMID:12601471|PMID:15290653|PMID:16683254|PMID:17026620|PMID:17924331|PMID:17997147|PMID:18060494|PMID:18593900|PMID:18607349|PMID:18951461|PMID:21990134|PMID:22505045|PMID:22711857|PMID:24052750|PMID:24323938|PMID:24549055|PMID:25639900|PMID:25741868|PMID:25863477|PMID:26467025|PMID:26633542|PMID:27276934|PMID:27352968|PMID:28492532|PMID:28724667|PMID:29084914|PMID:29161300|PMID:29339979|PMID:29394989|PMID:29446198|PMID:29753700|PMID:29875428|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29997359|PMID:30441849|PMID:30630528|PMID:30716324|PMID:30720243|PMID:31409081|PMID:31658756|PMID:31753525|PMID:32393813|PMID:32482800|PMID:32719484|PMID:32939053|PMID:33293522|PMID:33753322|PMID:35260348|PMID:35438911 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:0111089 Fanconi anemia complementation group D1 ISO RGD:736254 D RGD:7240710 20180130 OMIM 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:0111089 Fanconi anemia complementation group D1 ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group D1 PMID:10188893|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10486320|PMID:10498392|PMID:10551859|PMID:10570174|PMID:10644434|PMID:10660329|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10882858|PMID:10923033|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11062481|PMID:11106241|PMID:11149425|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11241844|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11447276|PMID:11466700|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11873550|PMID:11896095|PMID:11920621|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:12065746|PMID:12097290|PMID:12100744|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12402332|PMID:12442171|PMID:12442265|PMID:12442274|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12624724|PMID:12655567|PMID:12670525|PMID:12684407|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12845657|PMID:12920083|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14555511|PMID:14559878|PMID:14576434|PMID:14647210|PMID:14647438|PMID:14670928|PMID:14732925|PMID:14973102|PMID:15004464|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15235023|PMID:15290653|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15533909|PMID:15617999|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15744044|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15918047|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16047333|PMID:16115142|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16234499|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16550498|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16949048|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17333343|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17657584|PMID:17688236|PMID:17724471|PMID:17767707|PMID:17851763|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18092194|PMID:18284688|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:1843150|PMID:18431501|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18593900|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18703817|PMID:18704680|PMID:18724707|PMID:18779604|PMID:18819001|PMID:18824701|PMID:18844490|PMID:18951449|PMID:18951461|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19530235|PMID:19540122|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19747923|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19861517|PMID:19863560|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19967274|PMID:20033483|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20195775|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20380699|PMID:20589654|PMID:20608899|PMID:20614180|PMID:20616022|PMID:20683152|PMID:20694749|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20887823|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21147080|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:0111089 Fanconi anemia complementation group D1 ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group D1 PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21548014|PMID:21559243|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21769658|PMID:21789034|PMID:21913181|PMID:21939546|PMID:21952622|PMID:21965345|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22228431|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22638694|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22753899|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22874498|PMID:22875147|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23035815|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23199084|PMID:23231788|PMID:23249957|PMID:23318356|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23767878|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23983145|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24618965|PMID:24728189|PMID:24728327|PMID:24737347|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25146914|PMID:25186627|PMID:25203624|PMID:25233892|PMID:25256924|PMID:25330149|PMID:25348012|PMID:25382762|PMID:25395318|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25637381|PMID:25682074|PMID:25737278|PMID:25741868|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25863477|PMID:25896959|PMID:25948282|PMID:25980754|PMID:26026974|PMID:26064523|PMID:26067864|PMID:26155992|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26315209|PMID:26332594|PMID:26360800|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26541979|PMID:26556299|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26740091|PMID:26740942|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26787237|PMID:26834852|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26867194|PMID:26898890|PMID:26915939|PMID:26920070|PMID:26968956|PMID:27062684|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27208206|PMID:27257965|PMID:27273131|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27553368|PMID:27616075|PMID:27628236|PMID:27633797|PMID:27658390|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:27878467|PMID:27907908|PMID:27914478|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28132688|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28364669|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28640387|PMID:28664449|PMID:28678401|PMID:28687971|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28807866|PMID:28814288|PMID:28831036|PMID:28843361 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:0111089 Fanconi anemia complementation group D1 ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group D1 PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28993434|PMID:29021639|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29240602|PMID:2928257|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29416040|PMID:29433453|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29560538|PMID:29575201|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29667044|PMID:29681614|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30014164|PMID:30055349|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30199306|PMID:30207912|PMID:30212499|PMID:30254663|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30472649|PMID:30489631|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30606148|PMID:30611917|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30742731|PMID:30787465|PMID:30825404|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30972954|PMID:30982232|PMID:3108138|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31294896|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31444830|PMID:31447099|PMID:31454914|PMID:31464824|PMID:31558676|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31782247|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31869745|PMID:31911673|PMID:31924417|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32046981|PMID:32068069|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32123317|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32365798|PMID:32393398|PMID:32398771|PMID:32438681|PMID:32444794|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32606146|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32772980|PMID:32778078|PMID:32806537|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32984025|PMID:33067490|PMID:33077847|PMID:33078592|PMID:33087929|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33552952|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33643918|PMID:33731496|PMID:33773808|PMID:33868589|PMID:33918338|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34101484|PMID:34196900|PMID:34218100|PMID:34250417|PMID:34308366|PMID:34309133|PMID:34399810|PMID:34503154|PMID:34567246|PMID:34597585|PMID:34645131|PMID:34741701|PMID:35464868|PMID:35535697|PMID:36988593|PMID:4055113|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9145676|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9536098|PMID:9667259|PMID:9758598|PMID:9761393|PMID:9771877|PMID:9792861|PMID:9840533|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:0111685 hereditary mixed polyposis syndrome 1 ISO RGD:736254 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:10283 prostate cancer ISO RGD:736254 D RGD:7240710 20180418 OMIM 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:10283 prostate cancer ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer PMID:1|PMID:10644434|PMID:10660329|PMID:10717622|PMID:10790213|PMID:10978364|PMID:11149425|PMID:11170288|PMID:11179017|PMID:11267991|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11597388|PMID:11802209|PMID:11812938|PMID:11843247|PMID:11857748|PMID:11938448|PMID:12065746|PMID:12373604|PMID:12414830|PMID:12474142|PMID:12569143|PMID:12655567|PMID:12672316|PMID:12845657|PMID:12872265|PMID:12955716|PMID:14559878|PMID:14647210|PMID:14670928|PMID:14973102|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15728167|PMID:15876480|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16539696|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16826315|PMID:16905680|PMID:16912212|PMID:16920162|PMID:17063270|PMID:17148771|PMID:17301269|PMID:17513806|PMID:17688236|PMID:17925560|PMID:17972171|PMID:17997147|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18627636|PMID:18703817|PMID:18704680|PMID:18824701|PMID:19016756|PMID:19043619|PMID:19241424|PMID:19491284|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21156238|PMID:21205087|PMID:21232165|PMID:21324516|PMID:21520273|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21702907|PMID:21709188|PMID:21913181|PMID:21952622|PMID:22006311|PMID:22009639|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22711857|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23108138|PMID:23199084|PMID:23318356|PMID:23328489|PMID:23397983|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23635950|PMID:23725378|PMID:23767878|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24448499|PMID:24504028|PMID:24528374|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25330149|PMID:25366421|PMID:25382762|PMID:25395318|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26219728|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26350514|PMID:26360800|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26657402|PMID:26681312|PMID:26689913|PMID:26834852|PMID:26845104|PMID:27153395|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27406733|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28222693|PMID:28277317|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28651617|PMID:28687356|PMID:28724667|PMID:28831036|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28993434|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29321669|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29394989|PMID:29446198|PMID:29478780|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29575201|PMID:29625052|PMID:29684080|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29945567|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30613824|PMID:30630528|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30972954|PMID:31112363|PMID:31131967|PMID:31159747|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31411802|PMID:31447099|PMID:31589614|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32098980|PMID:32101877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:10283 prostate cancer ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer PMID:32164353|PMID:32190957|PMID:32295079|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32438681|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32853339|PMID:32875559|PMID:32885271|PMID:33087929|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33891299|PMID:33918338|PMID:34008015|PMID:34399810|PMID:34445631|PMID:34567246|PMID:34917121|PMID:35472165|PMID:35535697|PMID:36988593|PMID:8524414|PMID:8589730|PMID:8673090|PMID:8988179|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:10283 prostate cancer disease_progression ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:mutation PMID:18182994|REF_RGD_ID:2289042 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:10534 stomach cancer ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10227398|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10790213|PMID:10923033|PMID:10978364|PMID:11030418|PMID:11039575|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11251181|PMID:11389159|PMID:11400546|PMID:11595708|PMID:11597388|PMID:11793480|PMID:11802209|PMID:11857748|PMID:11897832|PMID:11920621|PMID:11938448|PMID:12065746|PMID:12142080|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12373604|PMID:12442265|PMID:12774040|PMID:12955716|PMID:14517958|PMID:14559878|PMID:14647210|PMID:14670928|PMID:14973102|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15168169|PMID:15290653|PMID:15548363|PMID:15645491|PMID:15689453|PMID:15695382|PMID:16199547|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:17011978|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17351952|PMID:17513806|PMID:17576681|PMID:17688236|PMID:17851763|PMID:17924331|PMID:17925560|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18424508|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18607349|PMID:18703817|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18951449|PMID:18951461|PMID:19016756|PMID:19043619|PMID:19241424|PMID:19353265|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19563646|PMID:19620486|PMID:19656164|PMID:19656415|PMID:19795481|PMID:19796187|PMID:19805903|PMID:19912264|PMID:20104584|PMID:20215541|PMID:20373018|PMID:20406929|PMID:20513136|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21138478|PMID:21190077|PMID:21233401|PMID:21318380|PMID:21324516|PMID:21465317|PMID:21497495|PMID:21559243|PMID:21598239|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21719596|PMID:21735045|PMID:21952622|PMID:21990134|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22085629|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22382806|PMID:22430266|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22682623|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22866093|PMID:22923021|PMID:22970155|PMID:23035815|PMID:23096105|PMID:23108138|PMID:23199084|PMID:23265383|PMID:23328489|PMID:23348723|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23593081|PMID:23633455|PMID:23683081|PMID:23704984|PMID:23767878|PMID:23929434|PMID:23942203|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24156927|PMID:24249303|PMID:24259538|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24333842|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25146914|PMID:25186627|PMID:25348012|PMID:25382762|PMID:25428789|PMID:25447315|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25525159|PMID:25556971|PMID:25682074|PMID:25741868|PMID:25777348|PMID:25802882|PMID:25863477|PMID:25940717|PMID:25948282|PMID:26023681|PMID:26026974|PMID:26064523|PMID:26183948|PMID:26187060|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26306726|PMID:26360800|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26576347|PMID:26586665|PMID:26657402|PMID:26681312|PMID:26681678|PMID:26689913|PMID:26709275|PMID:26757417|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26834852|PMID:26845104|PMID:26848529|PMID:27000661|PMID:27060066|PMID:27062684|PMID:27153395|PMID:27157322|PMID:27257965|PMID:27271530|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27914478|PMID:28008555|PMID:28039656|PMID:28090007|PMID:28102861|PMID:28111427|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28205045|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28423363|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28541631|PMID:28655807|PMID:28657667|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28782087|PMID:28802053|PMID:28825054|PMID:28825143|PMID:28831036|PMID:28857155|PMID:28993434|PMID:29020732 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:10534 stomach cancer ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29575201|PMID:29580235|PMID:29625052|PMID:29673794|PMID:29681614|PMID:29707112|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29922827|PMID:29988080|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30203341|PMID:30217213|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30415210|PMID:30441849|PMID:30472649|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30613976|PMID:30630528|PMID:30652428|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30792206|PMID:30875412|PMID:30883759|PMID:31090900|PMID:31112363|PMID:31131967|PMID:31143373|PMID:31159747|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31331294|PMID:31343793|PMID:31360904|PMID:31396961|PMID:31411802|PMID:31432501|PMID:31447099|PMID:31454914|PMID:31497750|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31666926|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32039725|PMID:32072338|PMID:32098980|PMID:32101877|PMID:32132887|PMID:32164353|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32359129|PMID:32365798|PMID:32393398|PMID:32444794|PMID:32467295|PMID:32486089|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32761968|PMID:32778078|PMID:32820175|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32959997|PMID:32980694|PMID:33054725|PMID:33087929|PMID:33151324|PMID:33372952|PMID:33428613|PMID:33471991|PMID:33478551|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33646313|PMID:33891299|PMID:33918338|PMID:34008015|PMID:34046351|PMID:34072659|PMID:34235180|PMID:34399810|PMID:34490083|PMID:34567246|PMID:34645131|PMID:34680387|PMID:35535697|PMID:35731312|PMID:36988593|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8705994|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9150172|PMID:9361038|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1059 intellectual disability ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability syndrome PMID:10969800|PMID:18182994|PMID:20104584|PMID:21895635|PMID:22711857|PMID:22762150|PMID:23569316|PMID:24156927|PMID:24312913|PMID:24764757|PMID:25741868|PMID:26467025|PMID:27616075|PMID:28127413|PMID:28492532|PMID:28767289|PMID:29446198 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1107 esophageal carcinoma ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus PMID:17972177|PMID:18431501|PMID:18627636|PMID:18779604|PMID:21120943|PMID:21218378|PMID:21523855|PMID:22126563|PMID:22293751|PMID:22486713|PMID:23555315|PMID:24055113|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26689913|PMID:28222693|PMID:28492532|PMID:35464868 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1148 polydactyly ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:20104584|PMID:25236687|PMID:25741868|PMID:26295337|PMID:26467025|PMID:28281021|PMID:28492532|PMID:29446198|PMID:30630528|PMID:34196900 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:11994 atrophy of testis ISO RGD:2219 D RGD:9068941 20210219 RGD PMID:12754522|REF_RGD_ID:727990 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:13636 Fanconi anemia ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:11030417|PMID:11185744|PMID:12491487|PMID:12955716|PMID:12960223|PMID:14670928|PMID:15026808|PMID:15070707|PMID:15635067|PMID:15645491|PMID:15876480|PMID:16825431|PMID:17924331|PMID:17972177|PMID:18284688|PMID:18431501|PMID:18627636|PMID:18779604|PMID:19043619|PMID:20104584|PMID:20127978|PMID:20927582|PMID:21120943|PMID:21218378|PMID:21523855|PMID:21548014|PMID:21702907|PMID:21719596|PMID:21990134|PMID:22009639|PMID:22034289|PMID:22126563|PMID:22228431|PMID:22293751|PMID:22486713|PMID:22874498|PMID:23555315|PMID:23704879|PMID:23893897|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24728327|PMID:25085752|PMID:25186627|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25741868|PMID:26295337|PMID:26296701|PMID:26467025|PMID:26689913|PMID:26834852|PMID:26920070|PMID:27376475|PMID:28222693|PMID:28492532|PMID:28831036|PMID:29310832|PMID:29394989|PMID:29446198|PMID:29470806|PMID:29753700|PMID:29884841|PMID:30254663|PMID:31131967|PMID:31911673|PMID:32398771|PMID:35464868 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:13636 Fanconi anemia susceptibility ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:mutation PMID:12065746|REF_RGD_ID:734658 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1380 endometrial cancer ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:deletion, frameshift mutation PMID:10451700|REF_RGD_ID:2296027 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1520 colon carcinoma ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:11030418|PMID:12491487|PMID:15744044|PMID:15937982|PMID:15983021|PMID:16758124|PMID:20167696|PMID:21523855|PMID:22034289|PMID:24504028|PMID:24728327|PMID:24814045|PMID:25058500|PMID:25348012|PMID:25503501|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27165003|PMID:28223274|PMID:28492532|PMID:28814288|PMID:29061375|PMID:29394989|PMID:29849630|PMID:29881398|PMID:29884841|PMID:30055349|PMID:30254663|PMID:30287823|PMID:30374176|PMID:30883759|PMID:32123317|PMID:33233347|PMID:33471991|PMID:33609447 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:7240710 20180711 OMIM 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11972384|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18097605|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20858050|PMID:20859677|PMID:20927582 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225819|PMID:27257965|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:28008555|PMID:28111427|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28947987|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30128899|PMID:30199306|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31191615|PMID:31209999|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31396961|PMID:31409081|PMID:31422574|PMID:31447099|PMID:3146935|PMID:31528241|PMID:31658756|PMID:31742824|PMID:31753525|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31954625|PMID:31957001|PMID:32114502|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32380732|PMID:32393813|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32599251|PMID:32658311|PMID:32806537|PMID:32812259|PMID:32885271|PMID:32918181|PMID:32939053|PMID:33067490|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33428613|PMID:33471991|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33868589|PMID:33875706|PMID:33978741|PMID:3413277|PMID:34242281|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225819|PMID:27257965|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:28008555|PMID:28111427|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28947987|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30128899|PMID:30199306|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31191615|PMID:31209999|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31396961|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31454914|PMID:3146935|PMID:31528241|PMID:31658756|PMID:31742824|PMID:31753525|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31954625|PMID:31957001|PMID:32114502|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32380732|PMID:32393813|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32599251|PMID:32658311|PMID:32806537|PMID:32812259|PMID:32885271|PMID:32918181|PMID:32939053|PMID:33067490|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33428613|PMID:33471991|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33868589|PMID:33875706|PMID:33978741|PMID:3413277|PMID:34242281|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11972384|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20858050|PMID:20859677|PMID:20927582 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740942|PMID:26757417 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:28008555|PMID:28111427|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30128899|PMID:30199306|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30702160|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31191615|PMID:31209999|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31396961|PMID:31409081|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31454914|PMID:3146935|PMID:31528241|PMID:31658756|PMID:31742824|PMID:31753525|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32098980|PMID:32114502|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32853339|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32939053|PMID:33054725|PMID:33067490|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33558524 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:33609447|PMID:33643918|PMID:33868589|PMID:33875706|PMID:33978741|PMID:3413277|PMID:34178674|PMID:34242281|PMID:34503154|PMID:35464868|PMID:35535697|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23535825|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23593120|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23717510|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24359602|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24771903|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25793373|PMID:25802882|PMID:25838448|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25919761|PMID:25925381|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26264438|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, invasive ductal | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11938448|PMID:11972384|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12815053|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17018160|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:18974781|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, invasive ductal | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23535825|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23593120|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23717510|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24359602|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24771903|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25793373|PMID:25802882|PMID:25838448|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25919761|PMID:25925381|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26264438|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, invasive ductal | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26497743|PMID:26510858|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27074266|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27392074|PMID:27393621|PMID:27406733|PMID:27424552|PMID:27425403|PMID:27428751|PMID:27432226|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27742414|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28152060|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28377418|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28502252|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591191|PMID:28591715|PMID:28604730|PMID:28616458|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29136510|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29382703|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29531215|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29688369|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29767749|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30128899|PMID:30199306|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30418626|PMID:30425037|PMID:30425093|PMID:30472649|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30672594|PMID:30675319|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30742731|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31069257|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, invasive ductal | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31161121|PMID:31173646|PMID:31174203|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263500|PMID:31263571|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31447099|PMID:31454914|PMID:3146935|PMID:31528241|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32002120|PMID:32039725|PMID:32059136|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32104210|PMID:32114502|PMID:32123317|PMID:32206145|PMID:32211327|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32853339|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:33054725|PMID:33067490|PMID:33230308|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33868589|PMID:33875706|PMID:33978741|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34178674|PMID:34242281|PMID:34309133|PMID:34503154|PMID:34597585|PMID:34645131|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35736817|PMID:35753294|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11938448|PMID:11972384|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26067864|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26552643|PMID:26556299|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28767289|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30652428|PMID:30675319|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31360904|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31454914|PMID:3146935|PMID:31528241|PMID:31589614 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:33054725|PMID:33067490|PMID:33087929|PMID:33230308|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34178674|PMID:34218100|PMID:34242281|PMID:34309133|PMID:34399810|PMID:34503154|PMID:34597585|PMID:34645131|PMID:35260348|PMID:35438911|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35736817|PMID:35753294|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11938448|PMID:11972384|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20858050 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26067864|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26552643|PMID:26556299|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30652428|PMID:30675319|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31360904|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31454914|PMID:3146935 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31528241|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33087929|PMID:33230308|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34242281|PMID:34309133|PMID:34399810|PMID:34503154|PMID:34597585|PMID:34645131|PMID:34717758|PMID:35260348|PMID:35438911|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35736817|PMID:35753294|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31528241|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33087929|PMID:33230308|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34242281|PMID:34309133|PMID:34399810|PMID:34503154|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34717758|PMID:35260348|PMID:35438911|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35736817|PMID:35753294|PMID:36988593|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1614 male breast cancer ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, male PMID:10464631|PMID:17924331|PMID:21952622|PMID:21990134|PMID:22771033|PMID:24323938|PMID:25682074|PMID:25741868|PMID:26689913|PMID:28492532|PMID:29580235|PMID:9654203 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:162 cancer ISO RGD:2219 D RGD:9068941 20210430 RGD PMID:16964288|REF_RGD_ID:1599505 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:736254 D RGD:7240710 20180130 OMIM 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 PMID:10417300|PMID:10464624|PMID:10570174|PMID:10644434|PMID:10660329|PMID:10733239|PMID:10739756|PMID:10790213|PMID:10923033|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11595708|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11896095|PMID:11920643|PMID:11948123|PMID:12065746|PMID:12097257|PMID:12142080|PMID:12402332|PMID:12473589|PMID:12655567|PMID:12670525|PMID:12845657|PMID:12955716|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14973102|PMID:15024741|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15695382|PMID:15994883|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16920162|PMID:16949048|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17301269|PMID:17591843|PMID:17657584|PMID:17688236|PMID:17899372|PMID:17925560|PMID:17972171|PMID:17972177|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18607349|PMID:18627636|PMID:18704680|PMID:18779604|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19241424|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20380699|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:21120943|PMID:21205087|PMID:21218378|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21720365|PMID:21913181|PMID:21952622|PMID:22006311|PMID:22009639|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22430266|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22703879|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22874498|PMID:22923021|PMID:22970155|PMID:22995991|PMID:23096105|PMID:23199084|PMID:23265383|PMID:23318356|PMID:23341105|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23633455|PMID:23658460|PMID:23725378|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25330149|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25737278|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25980754|PMID:26026974|PMID:26064523|PMID:26067864|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26577449|PMID:26580448|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26757417|PMID:26834852|PMID:26852015|PMID:26867194|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27658390|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27907908|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28179634|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28294317|PMID:28324225|PMID:28351343|PMID:28419251|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28825143|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28993434|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29240602|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29433453|PMID:29439820|PMID:29446198|PMID:29478780|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29681614|PMID:29752822|PMID:29753700|PMID:29907814 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 PMID:29909963|PMID:29915322|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30039884|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30415210|PMID:30489631|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30972954|PMID:31090900|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31444830|PMID:31447099|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31948886|PMID:31957001|PMID:32029870|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32211327|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32359129|PMID:32380732|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32521533|PMID:32532514|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32772980|PMID:32853339|PMID:32879886|PMID:32885271|PMID:33077847|PMID:33087929|PMID:33151324|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33471991|PMID:33608381|PMID:33646313|PMID:33918338|PMID:34308366|PMID:34399810|PMID:34567246|PMID:34572941|PMID:35535697|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9758598|PMID:9792861|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 PMID:10417300|PMID:10464624|PMID:10570174|PMID:10644434|PMID:10660329|PMID:10717622|PMID:10733239|PMID:10739756|PMID:10790213|PMID:10923033|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11595708|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11896095|PMID:11920643|PMID:11948123|PMID:12065746|PMID:12097257|PMID:12142080|PMID:12402332|PMID:12473589|PMID:12655567|PMID:12670525|PMID:12845657|PMID:12872265|PMID:12955716|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14973102|PMID:15024741|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15695382|PMID:15994883|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16920162|PMID:16949048|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17301269|PMID:17591843|PMID:17657584|PMID:17688236|PMID:17899372|PMID:17925560|PMID:17972171|PMID:17972177|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18607349|PMID:18627636|PMID:18704680|PMID:18779604|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19241424|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20380699|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:21120943|PMID:21205087|PMID:21218378|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21720365|PMID:21913181|PMID:21952622|PMID:22006311|PMID:22009639|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22430266|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22703879|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22874498|PMID:22923021|PMID:22970155|PMID:22995991|PMID:23096105|PMID:23199084|PMID:23265383|PMID:23318356|PMID:23341105|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23633455|PMID:23658460|PMID:23725378|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25330149|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25737278|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25980754|PMID:26026974|PMID:26064523|PMID:26067864|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26350514|PMID:26360800|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26577449|PMID:26580448|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26757417|PMID:26834852|PMID:26852015|PMID:26867194|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27658390|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27907908|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28179634|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28294317|PMID:28324225|PMID:28351343|PMID:28419251|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28825143|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28993434|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29240602|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29433453|PMID:29439820|PMID:29446198|PMID:29478780|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29681614 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 PMID:29752822|PMID:29753700|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30039884|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30415210|PMID:30489631|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30972954|PMID:31090900|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31444830|PMID:31447099|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:32029870|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32211327|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32359129|PMID:32380732|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32521533|PMID:32532514|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32772980|PMID:32853339|PMID:32879886|PMID:32885271|PMID:33077847|PMID:33087929|PMID:33151324|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33471991|PMID:33608381|PMID:33646313|PMID:33918338|PMID:34308366|PMID:34399810|PMID:34567246|PMID:34572941|PMID:35535697|PMID:36988593|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9758598|PMID:9792861|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1793 pancreatic cancer susceptibility ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:22187320|REF_RGD_ID:9068467 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1798 pancreatic endocrine carcinoma ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas PMID:15145354|PMID:22762150|PMID:25741868|PMID:29446198 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1909 melanoma ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Melanoma PMID:25741868|PMID:28492532|PMID:31911673 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1909 melanoma susceptibility ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.N991D(human) PMID:18024013|REF_RGD_ID:9068469 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:1969 cerebral palsy ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:17576681|PMID:19530235|PMID:21548014|PMID:22632462|PMID:23613520|PMID:25525159|PMID:25741868|PMID:26064523|PMID:26467025|PMID:27376475|PMID:28492532|PMID:9536098 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:2154 nephroblastoma ISO RGD:736254 D RGD:7240710 20180130 OMIM 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:2154 nephroblastoma ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic PMID:10644434|PMID:10660329|PMID:10790213|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:12065746|PMID:12373604|PMID:12655567|PMID:12845657|PMID:12955716|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15800311|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:17063270|PMID:17148771|PMID:17301269|PMID:17513806|PMID:17688236|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18703817|PMID:18704680|PMID:19016756|PMID:19241424|PMID:19491284|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21913181|PMID:21952622|PMID:22006311|PMID:22009639|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23199084|PMID:23318356|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23725378|PMID:23767878|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24504028|PMID:24528374|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25330149|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26657402|PMID:26681312|PMID:26689913|PMID:26834852|PMID:26845104|PMID:27153395|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28831036|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28993434|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29446198|PMID:29478780|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29575201|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29907814|PMID:29909963|PMID:29915322|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30630528|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30972954|PMID:31112363|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31411802|PMID:31447099|PMID:31589614|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32098980|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32853339|PMID:32875559|PMID:32885271|PMID:33087929|PMID:33372952|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33918338|PMID:34008015|PMID:34399810|PMID:34567246|PMID:35535697|PMID:36988593|PMID:8589730|PMID:8673090|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:2154 nephroblastoma susceptibility ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:deletion, point mutations: :886delGT, 4876G>T, IVS7+2T>G PMID:15689453|REF_RGD_ID:2289049 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:2234 focal epilepsy ISO RGD:736254 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:10923033|PMID:18779604|PMID:20104584|PMID:25741868|PMID:26467025|PMID:27425403|PMID:27741520|PMID:28087643|PMID:28492532|PMID:29161300|PMID:29446198|PMID:29907814|PMID:31446535|PMID:34287479 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:2394 ovarian cancer ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:11179017|PMID:14973102|PMID:15070707|PMID:15145354|PMID:15340362|PMID:16168118|PMID:17899372|PMID:17972171|PMID:18042939|PMID:18779604|PMID:19043619|PMID:19499246|PMID:20104584|PMID:20736950|PMID:21120943|PMID:21218378|PMID:22126563|PMID:24055113|PMID:24156927|PMID:24470074|PMID:24728327|PMID:25348012|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25782689|PMID:25980754|PMID:26221963|PMID:26295337|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26757417|PMID:27157322|PMID:27257965|PMID:27658390|PMID:27701467|PMID:27741520|PMID:27907908|PMID:28111427|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28294317|PMID:28351343|PMID:28419251|PMID:28492532|PMID:28664449|PMID:28724667|PMID:28993434|PMID:29161300|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29339979|PMID:29360161|PMID:29394989|PMID:29446198|PMID:29478780|PMID:29681614|PMID:29752822|PMID:29907814|PMID:29909963|PMID:29988080|PMID:30078507|PMID:30287823|PMID:30415210|PMID:30702160|PMID:31174498|PMID:31248605|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31957001|PMID:32101877|PMID:32190957|PMID:32318955|PMID:32444794|PMID:32521533|PMID:32879886|PMID:32885271|PMID:32984025|PMID:33078592|PMID:33309985|PMID:33428613|PMID:33461583|PMID:33471991 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:2394 ovarian cancer ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:11179017|PMID:11597388|PMID:12215251|PMID:12474142|PMID:12684407|PMID:14973102|PMID:15070707|PMID:15145354|PMID:15168169|PMID:15317758|PMID:15340362|PMID:15365993|PMID:16168118|PMID:16261408|PMID:17657584|PMID:17899372|PMID:17972171|PMID:17972177|PMID:18042939|PMID:18607349|PMID:18627636|PMID:18779604|PMID:18824701|PMID:18844490|PMID:19016756|PMID:19043619|PMID:19499246|PMID:19656164|PMID:20104584|PMID:20215541|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21218378|PMID:21520273|PMID:21671020|PMID:21702907|PMID:21952622|PMID:22126563|PMID:22366370|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22703879|PMID:22921312|PMID:23108138|PMID:23231788|PMID:23469205|PMID:23729402|PMID:23983145|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24323938|PMID:24470074|PMID:24489791|PMID:24728327|PMID:24817641|PMID:24884479|PMID:25151137|PMID:25348012|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25980754|PMID:26067864|PMID:26187060|PMID:26221963|PMID:26295337|PMID:26332594|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26848529|PMID:26852015|PMID:27124784|PMID:27157322|PMID:27257965|PMID:27658390|PMID:27701467|PMID:27741520|PMID:27907908|PMID:28111427|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28294317|PMID:28351343|PMID:28419251|PMID:28423363|PMID:28492532|PMID:28664449|PMID:28724667|PMID:28961279|PMID:28993434|PMID:29161300|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29339979|PMID:29360161|PMID:29394989|PMID:29446198|PMID:29478780|PMID:29681614|PMID:29684080|PMID:29752822|PMID:29907814|PMID:29909963|PMID:29988080|PMID:30039884|PMID:30078507|PMID:30286154|PMID:30287823|PMID:30415210|PMID:30613976|PMID:30702160|PMID:30720243|PMID:30787465|PMID:31131967|PMID:31143303|PMID:31174498|PMID:31248605|PMID:31447099|PMID:31721094|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31853058|PMID:31911673|PMID:31957001|PMID:32029870|PMID:32101877|PMID:32190957|PMID:32211327|PMID:32318955|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32623769|PMID:32879886|PMID:32885271|PMID:32984025|PMID:33078592|PMID:33087929|PMID:33309985|PMID:33428613|PMID:33461583|PMID:33471991|PMID:34399810|PMID:8840963|PMID:9150172|PMID:9579822|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:2394 ovarian cancer disease_progression ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:deletion: :6174delT PMID:18165636|REF_RGD_ID:2289046 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:2394 ovarian cancer no_association ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.N372H (rs144848)(human) PMID:18431743|REF_RGD_ID:9068468 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:2871 endometrial carcinoma ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10227398|PMID:10417300|PMID:10433620|PMID:10464624|PMID:10570174|PMID:10595255|PMID:10733239|PMID:10739756|PMID:11267991|PMID:11359068|PMID:11466700|PMID:11597388|PMID:11802209|PMID:11896095|PMID:11920643|PMID:11938448|PMID:12097257|PMID:12402332|PMID:12473589|PMID:12569143|PMID:12672316|PMID:12698193|PMID:12955716|PMID:14559878|PMID:14576434|PMID:15340362|PMID:15695382|PMID:15994883|PMID:16683254|PMID:16825431|PMID:17148771|PMID:17591843|PMID:17850627|PMID:18607349|PMID:19188187|PMID:19530235|PMID:19949876|PMID:20104584|PMID:20216074|PMID:20301425|PMID:20736950|PMID:20859677|PMID:20887823|PMID:21324516|PMID:21614564|PMID:21720365|PMID:22006311|PMID:22009639|PMID:22430266|PMID:22476429|PMID:22703879|PMID:22923021|PMID:23199084|PMID:23341105|PMID:23469205|PMID:23569316|PMID:23633455|PMID:23658460|PMID:24033266|PMID:24156927|PMID:24448499|PMID:24504028|PMID:24728189|PMID:24884479|PMID:24916970|PMID:25036526|PMID:25085752|PMID:25348012|PMID:25395318|PMID:25741868|PMID:25980754|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26219728|PMID:26295337|PMID:26440929|PMID:26467025|PMID:26556299|PMID:26577449|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26867194|PMID:27153395|PMID:27425403|PMID:27433846|PMID:27495310|PMID:27831900|PMID:27836010|PMID:27974047|PMID:27989354|PMID:28492532|PMID:28687356|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28873162|PMID:28993434|PMID:29084914|PMID:29161300|PMID:29288066|PMID:29321669|PMID:29335925|PMID:29339979|PMID:29368341|PMID:29371908|PMID:29433453|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29937315|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30267214|PMID:30274973|PMID:30322717|PMID:30489631|PMID:30555256|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30787465|PMID:30875412|PMID:30883245|PMID:31090900|PMID:31263054|PMID:31444830|PMID:31447099|PMID:31589614|PMID:31825140|PMID:31911673|PMID:31948886|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32719484|PMID:32853339|PMID:32885271|PMID:32918181|PMID:33077847|PMID:33087929|PMID:33654310|PMID:34308366|PMID:34399810|PMID:8075631|PMID:8524414|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9585608|PMID:9585613|PMID:9758598 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:3007 breast ductal carcinoma ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma PMID:11062481|PMID:11927503|PMID:14555511|PMID:15235023|PMID:17767707|PMID:20135345|PMID:22703879|PMID:24033266|PMID:24323938|PMID:24728327|PMID:25741868|PMID:28492532 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:3008 invasive ductal carcinoma ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Infiltrating duct carcinoma of breast PMID:14973102|PMID:15145354|PMID:17899372|PMID:18627636|PMID:18779604|PMID:19043619|PMID:19499246|PMID:21218378|PMID:22126563|PMID:22476429|PMID:24470074|PMID:24728327|PMID:25741868|PMID:25782689|PMID:25980754|PMID:26221963|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26757417|PMID:27157322|PMID:27257965|PMID:27658390|PMID:27701467|PMID:27907908|PMID:28111427|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28351343|PMID:28419251|PMID:28492532|PMID:28993434|PMID:29192238|PMID:29240602|PMID:29394989|PMID:29681614|PMID:29752822|PMID:29988080|PMID:30287823|PMID:30415210|PMID:30702160|PMID:31825140|PMID:31837001|PMID:31911673|PMID:32444794|PMID:32879886|PMID:33428613|PMID:33471991 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:3070 high grade glioma ISO RGD:736254 D RGD:7240710 20180130 OMIM 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:3070 high grade glioma ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 3 PMID:10644434|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11400546|PMID:11802209|PMID:12373604|PMID:12655567|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15070707|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15800311|PMID:16168118|PMID:16168123|PMID:16389418|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:17063270|PMID:17148771|PMID:17513806|PMID:17688236|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18465347|PMID:18703817|PMID:19016756|PMID:19491284|PMID:19654294|PMID:19863560|PMID:19949876|PMID:19967274|PMID:20104584|PMID:20167696|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21324516|PMID:21520273|PMID:21709188|PMID:21913181|PMID:22006311|PMID:22009639|PMID:22217648|PMID:22535016|PMID:22666503|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23199084|PMID:23318356|PMID:23415752|PMID:23469205|PMID:23569316|PMID:23621881|PMID:23767878|PMID:24033266|PMID:24055113|PMID:24156927|PMID:24312913|PMID:24504028|PMID:24556621|PMID:24728189|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26287763|PMID:26295337|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26657402|PMID:26681312|PMID:26845104|PMID:27153395|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:28008555|PMID:28039656|PMID:28294317|PMID:28324225|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28915716|PMID:28918466|PMID:28973083|PMID:29088781|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29433453|PMID:29446198|PMID:29478780|PMID:29492181|PMID:29753700|PMID:29907814|PMID:29909963|PMID:30274973|PMID:30287823|PMID:30350268|PMID:30606148|PMID:31209999|PMID:32295079|PMID:8673090|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:3070 high grade glioma ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 3 PMID:10644434|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11400546|PMID:11802209|PMID:12065746|PMID:12373604|PMID:12655567|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15070707|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15800311|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16389418|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:17063270|PMID:17148771|PMID:17513806|PMID:17688236|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18465347|PMID:18703817|PMID:19016756|PMID:19491284|PMID:19654294|PMID:19863560|PMID:19967274|PMID:20104584|PMID:20167696|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21324516|PMID:21520273|PMID:21709188|PMID:21913181|PMID:22006311|PMID:22009639|PMID:22217648|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23199084|PMID:23318356|PMID:23415752|PMID:23469205|PMID:23569316|PMID:23621881|PMID:23767878|PMID:24033266|PMID:24055113|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24504028|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26287763|PMID:26295337|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26657402|PMID:26681312|PMID:26834852|PMID:26845104|PMID:27153395|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28294317|PMID:28324225|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28915716|PMID:28918466|PMID:28973083|PMID:29088781|PMID:29161300|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29446198|PMID:29478780|PMID:29492181|PMID:29753700|PMID:29907814|PMID:29909963|PMID:30078507|PMID:30274973|PMID:30287823|PMID:30350268|PMID:30606148|PMID:31112363|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31331294|PMID:31837001|PMID:31957001|PMID:32098980|PMID:32101877|PMID:32190957|PMID:32295079|PMID:32318955|PMID:32521533|PMID:32875559|PMID:32885271|PMID:33461583|PMID:33471991|PMID:33478551|PMID:34567246|PMID:35535697|PMID:8673090|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:3070 high grade glioma ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 3 PMID:10644434|PMID:10660329|PMID:10790213|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:12065746|PMID:12373604|PMID:12655567|PMID:12845657|PMID:12955716|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15800311|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:17063270|PMID:17148771|PMID:17301269|PMID:17513806|PMID:17688236|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18703817|PMID:18704680|PMID:19016756|PMID:19241424|PMID:19491284|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21913181|PMID:21952622|PMID:22006311|PMID:22009639|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23199084|PMID:23318356|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23725378|PMID:23767878|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24504028|PMID:24528374|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25330149|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26657402|PMID:26681312|PMID:26689913|PMID:26834852|PMID:26845104|PMID:27153395|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28831036|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28993434|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29446198|PMID:29478780|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29575201|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29907814|PMID:29909963|PMID:29915322|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30630528|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30972954|PMID:31112363|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31411802|PMID:31447099|PMID:31589614|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32098980|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32853339|PMID:32875559|PMID:32885271|PMID:33087929|PMID:33372952|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33918338|PMID:34008015|PMID:34399810|PMID:34567246|PMID:35535697|PMID:36988593|PMID:8589730|PMID:8673090|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:3168 squamous cell neoplasm ISO RGD:736254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24880342 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:3247 rhabdomyosarcoma ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10188893|PMID:10790213|PMID:11802209|PMID:11920621|PMID:12442265|PMID:12774040|PMID:15024741|PMID:15645491|PMID:15800615|PMID:16234499|PMID:16683254|PMID:16912212|PMID:17688236|PMID:18465347|PMID:18489799|PMID:19016756|PMID:19563646|PMID:19620486|PMID:20104584|PMID:21318380|PMID:21324516|PMID:21465317|PMID:21520333|PMID:21643751|PMID:21702907|PMID:21719596|PMID:21952622|PMID:22006311|PMID:22752604|PMID:22762150|PMID:22798144|PMID:23199084|PMID:23479189|PMID:23531862|PMID:24033266|PMID:24156927|PMID:24249303|PMID:24259538|PMID:24504028|PMID:24528374|PMID:24578176|PMID:24728189|PMID:24814045|PMID:25186627|PMID:25525159|PMID:25741868|PMID:25863477|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26360800|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26787237|PMID:27062684|PMID:27153395|PMID:27157322|PMID:27836010|PMID:28176296|PMID:28324225|PMID:28492532|PMID:28724667|PMID:28831036|PMID:28993434|PMID:29084914|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29368341|PMID:29446198|PMID:29489754|PMID:29506128|PMID:29625052|PMID:29752822|PMID:29907814|PMID:30274973|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30548481|PMID:30612635|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:31263571|PMID:31360904|PMID:31447099|PMID:31589614|PMID:31825140|PMID:32164353|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32719484|PMID:32853339|PMID:32885271|PMID:33087929|PMID:33372952|PMID:34399810|PMID:36988593|PMID:8589730 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:3302 chordoma ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chordoma PMID:10923033|PMID:11304778|PMID:11873550|PMID:11920621|PMID:12100744|PMID:12161607|PMID:12228710|PMID:12442265|PMID:12442273|PMID:12774040|PMID:15172753|PMID:15645491|PMID:15800311|PMID:15944772|PMID:16205630|PMID:16683254|PMID:17018160|PMID:17924331|PMID:17997147|PMID:18256760|PMID:18451181|PMID:19043619|PMID:19200354|PMID:19563646|PMID:19656415|PMID:20104584|PMID:21120943|PMID:21520333|PMID:21638052|PMID:21702907|PMID:21719596|PMID:21952622|PMID:21990134|PMID:22194698|PMID:22366370|PMID:22476429|PMID:22703879|PMID:22798144|PMID:22811390|PMID:23108138|PMID:24033266|PMID:24212087|PMID:24249303|PMID:24259538|PMID:24323938|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24556621|PMID:24728189|PMID:24728327|PMID:25447315|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25863477|PMID:25948282|PMID:26109977|PMID:26145171|PMID:26287763|PMID:26467025|PMID:27062684|PMID:27153395|PMID:27376475|PMID:27616075|PMID:28492532|PMID:28945843|PMID:29348823|PMID:29394989|PMID:29446198|PMID:29785135|PMID:29884841|PMID:29988080|PMID:30032850|PMID:30309222|PMID:30447919|PMID:30702160|PMID:31060523|PMID:31409081|PMID:31742824|PMID:31843900|PMID:31911673|PMID:32885271|PMID:33293522|PMID:33372952|PMID:33471991|PMID:33609447|PMID:34350294|PMID:36988593 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:3347 osteosarcoma ISO RGD:2219 D RGD:9068941 20200609 RGD DNA:nonsense mutation PMID:16964288|REF_RGD_ID:1599505 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:3457 invasive lobular carcinoma ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Invasive lobular breast carcinoma PMID:14973102|PMID:25741868|PMID:27257965|PMID:28222693|PMID:28492532|PMID:28664449|PMID:31911673 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:3459 breast carcinoma ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:1|PMID:10449599|PMID:10550133|PMID:10638982|PMID:10660329|PMID:10699917|PMID:10790213|PMID:10807692|PMID:10978364|PMID:11044354|PMID:11062481|PMID:11179017|PMID:11556836|PMID:11597388|PMID:11802209|PMID:11897832|PMID:11927503|PMID:12112655|PMID:12142080|PMID:12655560|PMID:14555511|PMID:15010701|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15217494|PMID:15235023|PMID:15571962|PMID:15689453|PMID:15887246|PMID:16168118|PMID:16170354|PMID:16199547|PMID:16418514|PMID:16683254|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17148771|PMID:17565157|PMID:17576681|PMID:17591843|PMID:17767707|PMID:17826769|PMID:17924331|PMID:17997147|PMID:18042939|PMID:18375895|PMID:18393245|PMID:18465347|PMID:18489799|PMID:18593900|PMID:18597679|PMID:18607349|PMID:18821011|PMID:18824701|PMID:19016756|PMID:19478387|PMID:19620486|PMID:19656164|PMID:20104584|PMID:20135345|PMID:20373018|PMID:20406929|PMID:20589654|PMID:20960228|PMID:21138478|PMID:21156238|PMID:21232165|PMID:21324516|PMID:21520333|PMID:21548014|PMID:21643751|PMID:21913181|PMID:219131812|PMID:21952622|PMID:21990134|PMID:22006311|PMID:22009639|PMID:22144684|PMID:22217648|PMID:22228431|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:22970155|PMID:23035815|PMID:23199084|PMID:23397983|PMID:23451180|PMID:23479189|PMID:23683081|PMID:23857704|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24156927|PMID:24249303|PMID:24323938|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24728327|PMID:24814045|PMID:24916970|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25186627|PMID:25366421|PMID:25382762|PMID:25452441|PMID:25480878|PMID:25525159|PMID:25556971|PMID:25682074|PMID:25741868|PMID:25802882|PMID:25863477|PMID:25940717|PMID:25948282|PMID:26026974|PMID:26183948|PMID:26187060|PMID:26295337|PMID:26360800|PMID:26439132|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26848151|PMID:27000661|PMID:27060066|PMID:27062684|PMID:27153395|PMID:27165220|PMID:27257965|PMID:27271530|PMID:27393621|PMID:27425403|PMID:27433846|PMID:27478808|PMID:27537391|PMID:27741520|PMID:27836010|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28135145|PMID:28176296|PMID:28324225|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28692638|PMID:28724667|PMID:28726808|PMID:28825054|PMID:28831036|PMID:28947987|PMID:28993434|PMID:29084914|PMID:29161300|PMID:29176636|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360550|PMID:29433453|PMID:29446198|PMID:29483665|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29752822|PMID:29907814|PMID:29909963|PMID:29945567|PMID:30078507|PMID:30093976|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30548481|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30787465|PMID:30875412|PMID:31090900|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31447099|PMID:31589614|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31957001|PMID:32029870|PMID:32072338|PMID:32164353|PMID:32295079|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32359129|PMID:32393398|PMID:32427313|PMID:32467295|PMID:32581362|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32776218|PMID:32846166|PMID:32853339|PMID:32885271|PMID:32959997|PMID:33087929|PMID:33151324|PMID:33372952|PMID:33471991|PMID:33558524|PMID:33608381|PMID:33646313|PMID:33891299|PMID:33918338|PMID:34399810|PMID:34445631|PMID:36988593|PMID:8589730|PMID:8665505|PMID:8673089|PMID:8706004|PMID:8988179|PMID:9042907|PMID:9150150|PMID:9150155|PMID:9150172|PMID:9536098|PMID:9585613|PMID:9634522|PMID:9643283|PMID:9667259|PMID:9766673|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:nonsense mutation: :p.K3326X (human) PMID:21279724|REF_RGD_ID:11344913 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:3883 Lynch syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:25741868|PMID:28492532 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:4905 pancreatic carcinoma ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:10699917|PMID:10923033|PMID:11039575|PMID:11179017|PMID:11207042|PMID:11251181|PMID:11938448|PMID:12181777|PMID:12204006|PMID:14559878|PMID:14973102|PMID:15024741|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15290653|PMID:15382066|PMID:15548363|PMID:15689453|PMID:15695382|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16905680|PMID:16978908|PMID:17100994|PMID:17262179|PMID:17576681|PMID:18042939|PMID:18182994|PMID:18451181|PMID:18489799|PMID:18497862|PMID:18607349|PMID:18819001|PMID:18951461|PMID:19043619|PMID:19491284|PMID:19499246|PMID:19656164|PMID:19796187|PMID:19912264|PMID:20104584|PMID:20694749|PMID:21232165|PMID:21324516|PMID:21465317|PMID:21497495|PMID:21548014|PMID:21559243|PMID:21702907|PMID:21735045|PMID:21952622|PMID:21990134|PMID:22144684|PMID:22217648|PMID:22382806|PMID:22430266|PMID:22505045|PMID:22535016|PMID:22682623|PMID:22729890|PMID:22762150|PMID:22798144|PMID:22866093|PMID:23108138|PMID:23199084|PMID:23451180|PMID:23683081|PMID:23961350|PMID:24013206|PMID:24033266|PMID:24156927|PMID:24312913|PMID:24323938|PMID:24333842|PMID:24728189|PMID:25072261|PMID:25085752|PMID:25146914|PMID:25382762|PMID:25479140|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25884701|PMID:26014432|PMID:26026974|PMID:26187060|PMID:26295337|PMID:26467025|PMID:26541979|PMID:26709275|PMID:26787237|PMID:26834852|PMID:27741520|PMID:27767231|PMID:28008555|PMID:28111427|PMID:28324225|PMID:28349240|PMID:28423363|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28782087|PMID:28802053|PMID:29020732|PMID:29084914|PMID:29339979|PMID:29360161|PMID:29394989|PMID:29433453|PMID:29446198|PMID:29785153|PMID:29907814|PMID:30262796|PMID:30309222|PMID:30322717|PMID:30350268|PMID:30609409|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30787465|PMID:31131967|PMID:32206145|PMID:32255556|PMID:32295079|PMID:32444794|PMID:32719484|PMID:33087929|PMID:33471991|PMID:33606809|PMID:33609447|PMID:36988593|PMID:8665505|PMID:9150150|PMID:9361038|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5041 esophageal cancer ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Esophagus cancer PMID:25741868|PMID:28492532|PMID:31911673 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5223 infertility ISO RGD:2219 D RGD:9068941 20200609 RGD PMID:12754522|REF_RGD_ID:727990 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:7240710 20190410 OMIM 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32072338|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32866190|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33193653|PMID:33233347|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34063308|PMID:3413277|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34350294|PMID:34399810|PMID:34749799|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17640379|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11512557|PMID:11556836|PMID:11595708|PMID:11597388|PMID:116985367|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:121769658|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15868448|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20736950|PMID:20804917|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23179793|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27603373|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32072338|PMID:32091409|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32866190|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34046351|PMID:34063308|PMID:3413277|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34350294|PMID:34399810|PMID:34749799|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055349|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32072338|PMID:32091409|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32866190|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34046351|PMID:34063308|PMID:3413277|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34749799|PMID:35150867|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055349 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32072338|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34749799|PMID:34771991|PMID:35150867|PMID:35464868|PMID:35535697|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30054569|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32072338|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34749799|PMID:34771991|PMID:34884835|PMID:35150867|PMID:35264596|PMID:35464868|PMID:35535697|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18414213|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:18974781|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23535825|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23593120|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23717510|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24359602|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24771903 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25793373|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25838448|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25919761|PMID:25925381|PMID:25927356|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26264438|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26510858|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27074266|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27383479|PMID:27392074|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27424552|PMID:27425403|PMID:27428751|PMID:27432226|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27632928|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27742414|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28152060|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28377418|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28502252|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591191|PMID:28591715|PMID:28595730|PMID:28604730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29136510|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29382703|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29531215|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29688369|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29767749|PMID:29770616 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30192042|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30418626|PMID:30425037|PMID:30425093|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30672594|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:31069257|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174203|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32072338|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32104210|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33977503|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34749799|PMID:34771991|PMID:34884835|PMID:35150867|PMID:35264596|PMID:35464868|PMID:35535697|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24771903|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25793373|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25838448|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25919761|PMID:25925381|PMID:25927356|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26264438|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26510858|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27074266|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18414213|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:18974781|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23535825|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23593120|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23717510|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24359602|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24771903|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25793373|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25838448|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25919761|PMID:25925381|PMID:25927356|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26264438|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26510858|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27074266|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27392074|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27424552|PMID:27425403|PMID:27428751|PMID:27432226|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27632928|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27742414|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27854218|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28152060|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28377418|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28502252|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591191|PMID:28591715|PMID:28595730|PMID:28604730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29136510|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29382703|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29489754|PMID:29492181|PMID:29506128|PMID:29531215|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29688369|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29767749|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30054569|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30418626|PMID:30425037|PMID:30425093|PMID:30426508|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30672594|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:31069257|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174203|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31883735|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31957001|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32104210|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32133419|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33087175|PMID:33113089|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33670479|PMID:33672545|PMID:33726785|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33977503|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:35150867|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35736817|PMID:35753294|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27854218|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580235|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31883735|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35736817|PMID:35753294|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1432501|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15868448|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29601120|PMID:29610387|PMID:29625052 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35736817|PMID:35753294|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29174094|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29601120|PMID:29610387 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385017|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1432501|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15868448|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21270786|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34659905|PMID:34680387|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35979650|PMID:35980532|PMID:36200007|PMID:36988593|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5744 ovary serous adenocarcinoma ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian serous surface papillary adenocarcinoma PMID:16793542|PMID:18704680|PMID:25741868 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:5750 endometrial serous adenocarcinoma susceptibility ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:deletion: :6174delT PMID:16650962|REF_RGD_ID:2289045 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:6039 uveal melanoma susceptibility ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:22187320|REF_RGD_ID:9068467 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:630 genetic disease ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15131399|PMID:15382066|PMID:16683254|PMID:16905680|PMID:16912212|PMID:17026620|PMID:18593900|PMID:18607349|PMID:18703817|PMID:20104584|PMID:20694749|PMID:21324516|PMID:22430266|PMID:22711857|PMID:24033266|PMID:24156927|PMID:24549055|PMID:25256924|PMID:25639900|PMID:25741868|PMID:25863477|PMID:25884701|PMID:26014432|PMID:26295337|PMID:26467025|PMID:26633542|PMID:26681312|PMID:27276934|PMID:27352968|PMID:28492532|PMID:28767289|PMID:29084914|PMID:29161300|PMID:29339979|PMID:29446198|PMID:29753700|PMID:29875428|PMID:29907814|PMID:29922827|PMID:29997359|PMID:30322717|PMID:30609409|PMID:30630528|PMID:30716324|PMID:30720243|PMID:30787465|PMID:31658756|PMID:31753525|PMID:31911673|PMID:32255556|PMID:32393813|PMID:32482800|PMID:32719484|PMID:32939053|PMID:33087929|PMID:33293522|PMID:33753322|PMID:33850299|PMID:35260348|PMID:35438911 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:6364 migraine ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Migraine PMID:15070707|PMID:16030099|PMID:16758124|PMID:17020472|PMID:18783588|PMID:20104584|PMID:20960228|PMID:21232165|PMID:21553119|PMID:21918853|PMID:22430266|PMID:22460208|PMID:22923021|PMID:23479189|PMID:24033266|PMID:25741868|PMID:26026974|PMID:26295337|PMID:26350514|PMID:26467025|PMID:28127413|PMID:28184943|PMID:28477318|PMID:28492532|PMID:28503720|PMID:29084914|PMID:29446198|PMID:29560538|PMID:30274973|PMID:30322717|PMID:30720863|PMID:32427313|PMID:33471991|PMID:34449592 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:6741 bilateral breast cancer ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: bilateral breast cancer PMID:25741868 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:687 hepatoblastoma ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:10717622|PMID:15937982|PMID:17826769|PMID:19941162|PMID:21120943|PMID:21769658|PMID:23056405|PMID:23893897|PMID:24884479|PMID:25348012|PMID:25741868|PMID:26467025|PMID:26933808|PMID:27741520|PMID:28492532|PMID:30212499|PMID:31911673|PMID:33471991|PMID:33643918|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:7141 prostate small cell carcinoma ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Metastatic Prostate Small Cell Carcinoma PMID:10660329|PMID:11597388|PMID:11802209|PMID:15024741|PMID:15689453|PMID:18393245|PMID:20104584|PMID:21952622|PMID:22009639|PMID:22144684|PMID:22535016|PMID:22666503|PMID:22798144|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26439132|PMID:26467025|PMID:27257965|PMID:27433846|PMID:27836010|PMID:28039656|PMID:28324225|PMID:28492532|PMID:28724667|PMID:28993434|PMID:29084914|PMID:29176636|PMID:29339979|PMID:29446198|PMID:30078507|PMID:30093976|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30702160|PMID:30720243|PMID:30787465|PMID:30875412|PMID:31263054|PMID:31447099|PMID:31742824|PMID:31825140|PMID:32295079|PMID:32318955|PMID:32341426|PMID:32467295|PMID:32710294|PMID:32853339|PMID:33608381|PMID:33918338|PMID:36988593 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:7188 autoimmune thyroiditis ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 PMID:12373604|PMID:25682074|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31911673 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:74 hematopoietic system disease ISO RGD:10247 D RGD:9068941 20200609 RGD PMID:16859999|REF_RGD_ID:11038791 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:769 neuroblastoma ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:16284991|PMID:19043619|PMID:20127978|PMID:21702907|PMID:22034289|PMID:22711857|PMID:24163242|PMID:25741868|PMID:26467025|PMID:26822237|PMID:28492532|PMID:29884841|PMID:30287823|PMID:31112341|PMID:31131967|PMID:31294896|PMID:31911673|PMID:33428613|PMID:33609447 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:8923 skin melanoma disease_progression ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:SNP: :rs206118, rs3752447, rs10492396 (human) PMID:25243787|REF_RGD_ID:11344896 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9000039 Spinal Cord Injuries ISO RGD:2219 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord: PMID:21748659|REF_RGD_ID:10053608 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9000217 Stomach Neoplasms ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:12065746|PMID:16199547|PMID:16920162|PMID:20104584|PMID:22632462|PMID:22798144|PMID:24033266|PMID:24301060|PMID:24607278|PMID:24916970|PMID:25382762|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26834852|PMID:27741520|PMID:28111427|PMID:28492532|PMID:29907814|PMID:30078507|PMID:30606148|PMID:31131967|PMID:31331294|PMID:35535697|PMID:36988593 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9000357 Male Breast Neoplasms susceptibility ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:mutation PMID:18042939|REF_RGD_ID:2289043 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9002304 Prostatic Neoplasms ISO RGD:736254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:10417300|PMID:10449599|PMID:10464624|PMID:10550133|PMID:10570174|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10699917|PMID:10733239|PMID:10739756|PMID:10790213|PMID:11149425|PMID:11179017|PMID:11389159|PMID:11466700|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11896095|PMID:11897832|PMID:12097290|PMID:12402332|PMID:12461697|PMID:12473589|PMID:12624152|PMID:12655567|PMID:12845657|PMID:12955716|PMID:14559878|PMID:14576434|PMID:14732925|PMID:15010701|PMID:15024741|PMID:15070707|PMID:15340362|PMID:15689453|PMID:15695382|PMID:15744030|PMID:15994883|PMID:16030099|PMID:16168118|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16760289|PMID:16764716|PMID:16825431|PMID:17026620|PMID:17148771|PMID:17576681|PMID:17591843|PMID:17688236|PMID:17924331|PMID:17972171|PMID:18042939|PMID:18393245|PMID:18439106|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18593900|PMID:18607349|PMID:18704680|PMID:18783588|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19241424|PMID:19530235|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19941162|PMID:19941167|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20216074|PMID:20301425|PMID:20608899|PMID:20736950|PMID:20858050|PMID:20887823|PMID:21120943|PMID:21138478|PMID:21205087|PMID:21232165|PMID:21318380|PMID:21324516|PMID:21520333|PMID:21643751|PMID:21709188|PMID:21913181|PMID:21952622|PMID:21990134|PMID:22006311|PMID:22009639|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22430266|PMID:22505045|PMID:22535016|PMID:22666503|PMID:22703879|PMID:22711857|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:22970155|PMID:23199084|PMID:23231788|PMID:23341105|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23940062|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24312913|PMID:24504028|PMID:24528374|PMID:24728189|PMID:24737347|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25085752|PMID:25111659|PMID:25136594|PMID:25186627|PMID:25330149|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:25940717|PMID:25980754|PMID:26064523|PMID:26187060|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26867194|PMID:27153395|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27836010|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28152038|PMID:28176296|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28423363|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28947987|PMID:28973083|PMID:28993434|PMID:29053726|PMID:29084914|PMID:29161300|PMID:29176636|PMID:29288066|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29433453|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29937315|PMID:29961768|PMID:29978187|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30489631|PMID:30548481|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30787465|PMID:30832263|PMID:30875412|PMID:30883245|PMID:30972954|PMID:31131967|PMID:31159747|PMID:31174498|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31360904|PMID:31396961|PMID:31444830|PMID:31447099|PMID:31589614|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31911673|PMID:31948886|PMID:31957001|PMID:32029870|PMID:32072338|PMID:32091409|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32467295|PMID:32521533 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:32581362|PMID:32710294|PMID:32719484|PMID:32846166|PMID:32853339|PMID:32885271|PMID:32959997|PMID:33077847|PMID:33087929|PMID:33372952|PMID:33461583|PMID:33471991|PMID:33558524|PMID:33608381|PMID:33808557|PMID:33891299|PMID:33918338|PMID:34308366|PMID:34309133|PMID:34399810|PMID:36988593|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8841191|PMID:8841192|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9536098|PMID:9585613|PMID:9758598 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:2219 D RGD:9068941 20200609 RGD PMID:16964288|REF_RGD_ID:1599505 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9003042 male breast carcinoma ISO RGD:736254 D RGD:8554872 20220913 ClinVar ClinVar Annotator: match by term: Male breast carcinoma PMID:10464631|PMID:17924331|PMID:21952622|PMID:21990134|PMID:22771033|PMID:24323938|PMID:25682074|PMID:25741868|PMID:26689913|PMID:28492532|PMID:29580235|PMID:9654203 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9005172 Lung Neoplasms ISO RGD:736254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24880342 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:1|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29309945|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29596542|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30055349|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30760827 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31780696|PMID:31782247|PMID:31811167|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32091409|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34046351|PMID:34063308|PMID:3413277|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34749799|PMID:35150867|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21621601 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:1|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655515|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28202063|PMID:28205045 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29596542|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30640733 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31780696|PMID:31782247|PMID:31794323|PMID:31811167|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32587276|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34749799|PMID:34771991|PMID:35150867|PMID:35464868|PMID:35535697|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:1|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655515|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21559243|PMID:21598239|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28195393|PMID:28195569|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29596542|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30623411|PMID:30630526|PMID:30630528|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31780696|PMID:31782247|PMID:31794323|PMID:31811167|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32587276|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34749799|PMID:34771991|PMID:34884835|PMID:35150867|PMID:35264596|PMID:35464868|PMID:35535697|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18414213|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:18974781|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23535825|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23593120|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23717510|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24359602|PMID:24372583|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24771903|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25320599 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25793373|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25838448|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25919761|PMID:25925381|PMID:25927356|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26264438|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26510858|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27074266|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27392074|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27424552|PMID:27425403|PMID:27428751|PMID:27432226|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27632928|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27742414|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28152060|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28377418|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28502252|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591191|PMID:28591715|PMID:28604730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29136510|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29382703|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29531215|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29596542|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29688369|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29767749|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30181556|PMID:30185652|PMID:30192042|PMID:30199306|PMID:30204945 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30207912|PMID:30212499|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30418626|PMID:30425037|PMID:30425093|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30672594|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:31069257|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174203|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31780696|PMID:31782247|PMID:31794323|PMID:31811167|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32104210|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32587276|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33939675|PMID:33948387|PMID:33977503|PMID:33978741|PMID:34026625|PMID:34034685 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34749799|PMID:34771991|PMID:34884835|PMID:35150867|PMID:35264596|PMID:35464868|PMID:35535697|PMID:35886069|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16168123|PMID:16170354|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20600922|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655515|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1432501|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22204421|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30553478|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32587276|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34548921|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35736817|PMID:35753294|PMID:35886069|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385017|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655515|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1432501|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25974703|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30553478|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32587276|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34548921|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35150867|PMID:35205643|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35886069|PMID:35980532|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16324400|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20600922|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21270786|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22204421|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22204421|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30553478|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32587276|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34548921|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34659905|PMID:34680387|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35150867|PMID:35205643|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35886069|PMID:35979650|PMID:35980532|PMID:36200007|PMID:36988593|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9836472|PMID:9840533|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9008344 Invasive Breast Carcinoma ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Invasive breast carcinoma PMID:25741868|PMID:28492532|PMID:31825140|PMID:31911673 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:11179017|PMID:11307153|PMID:11597388|PMID:15070707|PMID:15340362|PMID:15382066|PMID:16168118|PMID:16683254|PMID:17148771|PMID:17972171|PMID:18042939|PMID:19863560|PMID:20104584|PMID:20694749|PMID:20736950|PMID:21120943|PMID:21324516|PMID:23199084|PMID:23318356|PMID:23621881|PMID:24033266|PMID:24055113|PMID:24156927|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26295337|PMID:26467025|PMID:27741520|PMID:28008555|PMID:28294317|PMID:28423363|PMID:28492532|PMID:28724667|PMID:29161300|PMID:29339979|PMID:29360161|PMID:29446198|PMID:29478780|PMID:29907814|PMID:29909963|PMID:30274973|PMID:30702160|PMID:30720243|PMID:30787465|PMID:31174498|PMID:31447099|PMID:31825140|PMID:31837001|PMID:31957001|PMID:32029870|PMID:32101877|PMID:32190957|PMID:32318955|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32885271|PMID:33087929|PMID:33461583|PMID:33471991|PMID:34399810|PMID:8673090|PMID:9150172|PMID:9667259|PMID:9792861 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:10323242|PMID:10399947|PMID:10417300|PMID:10453741|PMID:10570174|PMID:10644434|PMID:10699917|PMID:10717622|PMID:10755399|PMID:10882858|PMID:10923033|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11091690|PMID:11106241|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11241844|PMID:11336395|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11556836|PMID:11595708|PMID:11802209|PMID:11896095|PMID:11929857|PMID:11948123|PMID:11950811|PMID:11979449|PMID:12097290|PMID:12100744|PMID:12142080|PMID:12204006|PMID:12215251|PMID:12402332|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12556369|PMID:12624724|PMID:12684407|PMID:12845657|PMID:12938098|PMID:12955716|PMID:14531499|PMID:14555518|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14746861|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15145354|PMID:15168169|PMID:15317758|PMID:15365993|PMID:15533909|PMID:15635067|PMID:15689453|PMID:15695382|PMID:15744044|PMID:15800311|PMID:15876480|PMID:15937982|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16168123|PMID:16261408|PMID:16284991|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16825431|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16949048|PMID:17011978|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17289875|PMID:17341484|PMID:17513806|PMID:17576681|PMID:17591843|PMID:17591940|PMID:17724471|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17997147|PMID:18006916|PMID:18284688|PMID:18286383|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18465347|PMID:18489799|PMID:18528753|PMID:18559594|PMID:18607349|PMID:18627636|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18824701|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19241424|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19563646|PMID:19656164|PMID:19861517|PMID:19949876|PMID:20104584|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21520273|PMID:21520333|PMID:21598239|PMID:21671020|PMID:21702907|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22399190|PMID:22430266|PMID:22476429|PMID:22505045|PMID:22535016|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22875147|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23096105|PMID:23108138|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23469205|PMID:23555315|PMID:23593081|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23704879|PMID:23729402|PMID:23893897|PMID:23929434|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24123850|PMID:24156927|PMID:24212087|PMID:24323938|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24961674|PMID:25085752|PMID:25123297|PMID:25428789|PMID:25476495|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25846551|PMID:25863477|PMID:25882375|PMID:25948282|PMID:25980754|PMID:25985138|PMID:26026974|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26306726|PMID:26332594|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26681312|PMID:26692440|PMID:26709275|PMID:26757417|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26898890|PMID:26992456|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27208206|PMID:27257965|PMID:27383479 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553291|PMID:27658390|PMID:27683183|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27907908|PMID:27914478|PMID:28039656|PMID:28111427|PMID:28179634|PMID:28194609|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28439188|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28664449|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28831036|PMID:28873162|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29346284|PMID:29360550|PMID:29368341|PMID:29394989|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29492181|PMID:29566657|PMID:29580235|PMID:29642553|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29752822|PMID:29802286|PMID:29881398|PMID:29884841|PMID:29907814|PMID:29988080|PMID:30039884|PMID:30078507|PMID:30152102|PMID:30254663|PMID:30287823|PMID:30410429|PMID:30415210|PMID:30611917|PMID:30652428|PMID:30702160|PMID:30725392|PMID:30883759|PMID:31131559|PMID:31131967|PMID:31159747|PMID:31825140|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32444794|PMID:32455662|PMID:32761968|PMID:33233347|PMID:33428613|PMID:33471991|PMID:8075631|PMID:8524414|PMID:8665505|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150152|PMID:9150154|PMID:9536098|PMID:9585613|PMID:9609997|PMID:9758598|PMID:9771877|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:10323242|PMID:10399947|PMID:10417300|PMID:10453741|PMID:10570174|PMID:10644434|PMID:10699917|PMID:10717622|PMID:10755399|PMID:10882858|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11091690|PMID:11106241|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11241844|PMID:11336395|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11556836|PMID:11595708|PMID:11802209|PMID:11896095|PMID:11929857|PMID:11948123|PMID:11950811|PMID:11979449|PMID:12097290|PMID:12100744|PMID:12142080|PMID:12204006|PMID:12215251|PMID:12402332|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12556369|PMID:12624724|PMID:12684407|PMID:12845657|PMID:12938098|PMID:12955716|PMID:14531499|PMID:14555518|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14746861|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15145354|PMID:15168169|PMID:15317758|PMID:15365993|PMID:15533909|PMID:15635067|PMID:15689453|PMID:15695382|PMID:15744044|PMID:15800311|PMID:15876480|PMID:15937982|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16168123|PMID:16261408|PMID:16284991|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16825431|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16949048|PMID:17011978|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17289875|PMID:17341484|PMID:17513806|PMID:17576681|PMID:17591843|PMID:17591940|PMID:17724471|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17997147|PMID:18284688|PMID:18286383|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18528753|PMID:18559594|PMID:18607349|PMID:18627636|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18824701|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19241424|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19563646|PMID:19656164|PMID:19861517|PMID:19949876|PMID:20104584|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21520273|PMID:21520333|PMID:21598239|PMID:21671020|PMID:21702907|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22399190|PMID:22430266|PMID:22476429|PMID:22505045|PMID:22535016|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22875147|PMID:22970155|PMID:22995991|PMID:23096105|PMID:23108138|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23469205|PMID:23555315|PMID:23593081|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23704879|PMID:23729402|PMID:23893897|PMID:23929434|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24123850|PMID:24156927|PMID:24212087|PMID:24323938|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24961674|PMID:25085752|PMID:25123297|PMID:25428789|PMID:25476495|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25846551|PMID:25863477|PMID:25882375|PMID:25948282|PMID:25980754|PMID:25985138|PMID:26026974|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26306726|PMID:26332594|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26681312|PMID:26692440|PMID:26709275|PMID:26757417|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26898890|PMID:26992456|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27208206|PMID:27257965|PMID:27383479|PMID:27425403|PMID:27433846 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:27469594|PMID:27616075|PMID:27658390|PMID:27683183|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27907908|PMID:27914478|PMID:28039656|PMID:28111427|PMID:28179634|PMID:28194609|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28439188|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28664449|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28831036|PMID:28873162|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29346284|PMID:29360550|PMID:29368341|PMID:29394989|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29492181|PMID:29566657|PMID:29580235|PMID:29642553|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29752822|PMID:29802286|PMID:29881398|PMID:29884841|PMID:29907814|PMID:29988080|PMID:30032850|PMID:30039884|PMID:30078507|PMID:30152102|PMID:30254663|PMID:30287823|PMID:30410429|PMID:30415210|PMID:30611917|PMID:30652428|PMID:30702160|PMID:30725392|PMID:30883759|PMID:31131559|PMID:31131967|PMID:31159747|PMID:31825140|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32338768|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32613071|PMID:32761968|PMID:32980694|PMID:33054725|PMID:33233347|PMID:33428613|PMID:33471991|PMID:34072659|PMID:8075631|PMID:8524414|PMID:8665505|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9536098|PMID:9585613|PMID:9609997|PMID:9758598|PMID:9771877|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:10323242|PMID:10399947|PMID:10417300|PMID:10453741|PMID:10464624|PMID:10570174|PMID:10644434|PMID:10699917|PMID:10717622|PMID:10755399|PMID:10882858|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11091690|PMID:11106241|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11241844|PMID:11336395|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11556836|PMID:11595708|PMID:11802209|PMID:11896095|PMID:11929857|PMID:11948123|PMID:11950811|PMID:11979449|PMID:12097290|PMID:12100744|PMID:12142080|PMID:12204006|PMID:12215251|PMID:12402332|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12556369|PMID:12624724|PMID:12684407|PMID:12845657|PMID:12938098|PMID:12955716|PMID:14531499|PMID:14555518|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14746861|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15145354|PMID:15168169|PMID:15317758|PMID:15365993|PMID:15533909|PMID:15635067|PMID:15689453|PMID:15695382|PMID:15744044|PMID:15800311|PMID:15876480|PMID:15937982|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16168123|PMID:16261408|PMID:16284991|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16825431|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16949048|PMID:17011978|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17289875|PMID:17341484|PMID:17513806|PMID:17576681|PMID:17591843|PMID:17591940|PMID:17724471|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17997147|PMID:18284688|PMID:18286383|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18528753|PMID:18559594|PMID:18607349|PMID:18627636|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18824701|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19241424|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19563646|PMID:19656164|PMID:19861517|PMID:19949876|PMID:20104584|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21520273|PMID:21520333|PMID:21598239|PMID:21671020|PMID:21702907|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22399190|PMID:22430266|PMID:22476429|PMID:22505045|PMID:22535016|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22875147|PMID:22970155|PMID:22995991|PMID:23096105|PMID:23108138|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23469205|PMID:23555315|PMID:23593081|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23704879|PMID:23729402|PMID:23893897|PMID:23929434|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24123850|PMID:24156927|PMID:24212087|PMID:24323938|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24961674|PMID:25085752|PMID:25123297|PMID:25428789|PMID:25476495|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25846551|PMID:25863477|PMID:25882375|PMID:25948282|PMID:25980754|PMID:25985138|PMID:26026974|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26306726|PMID:26332594|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26757417|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26898890|PMID:26992456|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27208206|PMID:27257965 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:27383479|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27683183|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27836010|PMID:27907908|PMID:27914478|PMID:27989354|PMID:28039656|PMID:28111427|PMID:28179634|PMID:28194609|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28439188|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28664449|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28831036|PMID:28873162|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29346284|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29487695|PMID:29492181|PMID:29534594|PMID:29566657|PMID:29580235|PMID:29642553|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29752822|PMID:29802286|PMID:29881398|PMID:29884841|PMID:29907814|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30032850|PMID:30039884|PMID:30050867|PMID:30078507|PMID:30152102|PMID:30254663|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30410429|PMID:30415210|PMID:30611917|PMID:30652428|PMID:30702160|PMID:30706003|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30883759|PMID:31131559|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31214711|PMID:31248605|PMID:31263571|PMID:31396961|PMID:31428572|PMID:31742824|PMID:31815095|PMID:31825140|PMID:31948886|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32338768|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32613071|PMID:32719484|PMID:32761968|PMID:32782288|PMID:32817299|PMID:32820175|PMID:32879886|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33054725|PMID:33078592|PMID:33233347|PMID:33309985|PMID:33428613|PMID:33471991|PMID:33558524|PMID:33726785|PMID:34046351|PMID:34072659|PMID:34567246|PMID:35300142|PMID:8075631|PMID:8524414|PMID:8665505|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9536098|PMID:9585613|PMID:9609997|PMID:9758598|PMID:9771877|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:10323242|PMID:10399947|PMID:10417300|PMID:10453741|PMID:10464624|PMID:10570174|PMID:10644434|PMID:10660329|PMID:10699917|PMID:10717622|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10882858|PMID:10923033|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11091690|PMID:11106241|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11241844|PMID:11336395|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11802209|PMID:11896095|PMID:11929857|PMID:11948123|PMID:11950811|PMID:11979449|PMID:12065746|PMID:12097290|PMID:12100744|PMID:12142080|PMID:12204006|PMID:12215251|PMID:12402332|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12556369|PMID:12624724|PMID:12684407|PMID:12845657|PMID:12938098|PMID:12955716|PMID:14531499|PMID:14555518|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14746861|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15145354|PMID:15168169|PMID:15317758|PMID:15365993|PMID:15533909|PMID:15635067|PMID:15689453|PMID:15695382|PMID:15744044|PMID:15800311|PMID:15876480|PMID:15937982|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16168123|PMID:16261408|PMID:16284991|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16825431|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16949048|PMID:17011978|PMID:17011979|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17289875|PMID:17341484|PMID:17513806|PMID:17576681|PMID:17591843|PMID:17591940|PMID:17724471|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17997147|PMID:18006916|PMID:18284688|PMID:18286383|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18528753|PMID:18559594|PMID:18607349|PMID:18627636|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18824701|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19241424|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19563646|PMID:19656164|PMID:19861517|PMID:19949876|PMID:20104584|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21520273|PMID:21520333|PMID:21598239|PMID:21671020|PMID:21702907|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22293751|PMID:22399190|PMID:22430266|PMID:22476429|PMID:22505045|PMID:22535016|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22875147|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23096105|PMID:23108138|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23469205|PMID:23555315|PMID:23593081|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23704879|PMID:23729402|PMID:23893897|PMID:23929434|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24123850|PMID:24156927|PMID:24212087|PMID:24323938|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24961674|PMID:25085752|PMID:25123297|PMID:25428789|PMID:25476495|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25846551|PMID:25863477|PMID:25882375|PMID:25948282|PMID:25980754|PMID:25985138|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26221963|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26306726|PMID:26332594|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26576347|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26757417|PMID:26843898 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26898890|PMID:26992456|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165220|PMID:27208206|PMID:27257965|PMID:27383479|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27683183|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27836010|PMID:27852271|PMID:27907908|PMID:27914478|PMID:27989354|PMID:28039656|PMID:28111427|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28439188|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28664449|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28831036|PMID:28873162|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29288066|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29339979|PMID:29346284|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29433453|PMID:29435039|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29642553|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29723101|PMID:29752822|PMID:29802286|PMID:29881398|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30050867|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30410429|PMID:30415210|PMID:30489631|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30652428|PMID:30702160|PMID:30706003|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:31090900|PMID:31131559|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31214711|PMID:31248605|PMID:31263054|PMID:31263571|PMID:31396961|PMID:31409081|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31447099|PMID:31589614|PMID:31742824|PMID:31815095|PMID:31825140|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32029870|PMID:32039725|PMID:32101877|PMID:32123317|PMID:32132887|PMID:32211327|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32359129|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32581362|PMID:32613071|PMID:32710294|PMID:32719484|PMID:32761968|PMID:32782288|PMID:32817299|PMID:32820175|PMID:32853339|PMID:32854451|PMID:32879886|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33054725|PMID:33077847|PMID:33078592|PMID:33087929|PMID:33151324|PMID:33233347|PMID:33309985|PMID:33428613|PMID:33471991|PMID:33558524|PMID:33608381|PMID:33646313|PMID:33726785|PMID:33891299|PMID:33918338|PMID:34046351|PMID:34072659|PMID:34308366|PMID:34399810|PMID:34567246|PMID:35300142|PMID:36988593|PMID:8075631|PMID:8524414|PMID:8665505|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9536098|PMID:9585613|PMID:9609997|PMID:9758598|PMID:9771877|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:mutation PMID:8524414|REF_RGD_ID:1599503 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:1|PMID:10070953|PMID:10227398|PMID:10359546|PMID:10399947|PMID:10417300|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10570174|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10874312|PMID:10882858|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044644|PMID:11062481|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11180605|PMID:11185744|PMID:11207042|PMID:11241844|PMID:11251181|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11710890|PMID:11754111|PMID:11793480|PMID:11802209|PMID:11812938|PMID:11843247|PMID:11857748|PMID:11873550|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11979449|PMID:12048272|PMID:12065746|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12142080|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1234|PMID:12373604|PMID:12402332|PMID:12414830|PMID:12442265|PMID:12442274|PMID:12442275|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12624152|PMID:12624724|PMID:12655560|PMID:12655567|PMID:12670525|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12759930|PMID:12845657|PMID:12872265|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12960223|PMID:14517958|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647438|PMID:14670928|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14746861|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15533909|PMID:15548363|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15744044|PMID:15766593|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16115142|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16205630|PMID:16234499|PMID:16261408|PMID:16284991|PMID:16324400|PMID:16389418|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16574953|PMID:16619214|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16978908|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17250666|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17333343|PMID:17341484|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17688236|PMID:17724471|PMID:17767707|PMID:17851763|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18092194|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18256760|PMID:18257128|PMID:18284688|PMID:18286383|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18528753|PMID:18547621|PMID:18559594 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:18563556|PMID:18593900|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18724707|PMID:18779604|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18951461|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19967274|PMID:20033483|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20195775|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20513136|PMID:20567915|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20683152|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20859677|PMID:20878484|PMID:20887823|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:21918853|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23318356|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23397983|PMID:23415752|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23621881|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23767878|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24123850|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24333842|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25111659|PMID:25112434|PMID:25136594|PMID:25146914|PMID:25151137|PMID:25186627|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25330149|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428789|PMID:25447315|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25850536|PMID:25863477|PMID:25877891|PMID:25884701|PMID:25896959|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25980754|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26137147|PMID:26145171|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26221963|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26633542|PMID:26657402|PMID:26681312|PMID:26681678|PMID:26689913|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26757417|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26824983|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26911350|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26997744|PMID:27000661|PMID:27060066|PMID:27062684|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27165220|PMID:27194814|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27257965|PMID:27271530|PMID:27276934|PMID:27300552|PMID:27352968|PMID:27376475|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27456091|PMID:27469594|PMID:27478808|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27616075|PMID:27628236|PMID:27658390|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28176296|PMID:28179634|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28243543|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28541631|PMID:28616458|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28714951|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28767289|PMID:28782087|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28831036|PMID:28873162|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29116469|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:2928257 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:29288066|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580235|PMID:29625052|PMID:29642553|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29802286|PMID:29805665|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29937315|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30212499|PMID:30217213|PMID:30254663|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30340782|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30447919|PMID:30472649|PMID:30489631|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630528|PMID:30652428|PMID:30675319|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30972954|PMID:30982232|PMID:31019283|PMID:31060517|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31444830|PMID:31447099|PMID:31454914|PMID:31528241|PMID:31550176|PMID:31589614|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31853058|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32029870|PMID:32039725|PMID:32046981|PMID:32058061|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32190957|PMID:32211327|PMID:32284662|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32359129|PMID:32365798|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32486089|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32566972|PMID:32570879|PMID:32581362|PMID:32599251|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32761968|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32832836|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32984025|PMID:33054725|PMID:33067490|PMID:33077847|PMID:33078592 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:33087929|PMID:33113089|PMID:33151324|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33670479|PMID:33720054|PMID:33731496|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33875706|PMID:33891299|PMID:33918338|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34046351|PMID:34072659|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34445631|PMID:34490083|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34717758|PMID:35260348|PMID:35300142|PMID:35438911|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35753294|PMID:35886069|PMID:36988593|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9145676|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9361038|PMID:9536098|PMID:9579822|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9971877 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9256 colorectal cancer ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9256 colorectal cancer ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:28492532|PMID:33609447 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9256 colorectal cancer severity ISO RGD:736254 D RGD:9068941 20210430 RGD PMID:16533773|REF_RGD_ID:126790575 12098097 BRCA2 BRCA2 DNA repair associated gene DOID:9460 uterine corpus cancer ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:11030418|PMID:11158174|PMID:11802209|PMID:12065746|PMID:12373604|PMID:12955716|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15024741|PMID:15070707|PMID:15689453|PMID:16115142|PMID:16825431|PMID:16912212|PMID:17100994|PMID:17513806|PMID:17924331|PMID:18465347|PMID:18703817|PMID:19043619|PMID:19241424|PMID:20104584|PMID:20736950|PMID:21138478|PMID:21203900|PMID:21324516|PMID:21520273|PMID:21598239|PMID:21719596|PMID:21952622|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22144684|PMID:22535016|PMID:22666503|PMID:22798144|PMID:22923021|PMID:22970155|PMID:23108138|PMID:23199084|PMID:23469205|PMID:23767878|PMID:23929434|PMID:24033266|PMID:24156927|PMID:24323938|PMID:24504028|PMID:24884479|PMID:25066507|PMID:25085752|PMID:25146914|PMID:25476495|PMID:25583207|PMID:25741868|PMID:25782689|PMID:26014432|PMID:26026974|PMID:26064523|PMID:26250392|PMID:26295337|PMID:26467025|PMID:26556299|PMID:26566862|PMID:26576347|PMID:26657402|PMID:26681312|PMID:26689913|PMID:26733283|PMID:26845104|PMID:27153395|PMID:27194814|PMID:27257965|PMID:27425403|PMID:27495310|PMID:27741520|PMID:27831900|PMID:28111427|PMID:28195393|PMID:28324225|PMID:28492532|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28993434|PMID:29084914|PMID:29161300|PMID:29176636|PMID:29310832|PMID:29335924|PMID:29339979|PMID:29368341|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29566657|PMID:29575201|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29907814|PMID:29988080|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30199306|PMID:30217213|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30630528|PMID:30652428|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:31090900|PMID:31112363|PMID:31263054|PMID:31263571|PMID:31396961|PMID:31411802|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31742824|PMID:31825140|PMID:31921681|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32039725|PMID:32098980|PMID:32101877|PMID:32132887|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32467295|PMID:32719484|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32885271|PMID:33054725|PMID:33087929|PMID:33478551|PMID:33558524|PMID:33891299|PMID:34008015|PMID:34072659|PMID:34399810|PMID:36988593|PMID:8524414|PMID:8665505|PMID:9585613|PMID:9667259 12098097 Brca2 BRCA2, DNA repair associated gene DOID:83 cataract ISO RGD:2219 D RGD:9068941 20200609 RGD DNA:nonsense mutation PMID:16964288|REF_RGD_ID:1599505 12098136 CNOT2 CCR4-NOT transcription complex subunit 2 gene DOID:630 genetic disease ISO RGD:1323253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098136 CNOT2 CCR4-NOT transcription complex subunit 2 gene DOID:9003704 Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies ISO RGD:1323253 D RGD:7240710 20191113 OMIM 12098136 CNOT2 CCR4-NOT transcription complex subunit 2 gene DOID:9003704 Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies ISO RGD:1323253 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies PMID:25741868|PMID:31145527|PMID:31512373 12098136 CNOT2 CCR4-NOT transcription complex subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12098163 FAM83F family with sequence similarity 83 member F gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1602306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12098163 FAM83F family with sequence similarity 83 member F gene DOID:14228 oligospermia ISO RGD:1602306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oligozoospermia PMID:25741868 12098163 FAM83F family with sequence similarity 83 member F gene DOID:630 genetic disease ISO RGD:1602306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12098163 FAM83F family with sequence similarity 83 member F gene DOID:9002321 Teratozoospermia ISO RGD:1602306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Teratozoospermia PMID:25741868 12098171 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1322801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 12098171 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1322801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22131434|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25510381|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29525178|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31743256|PMID:32376792|PMID:32385536|PMID:33502061|PMID:9536098 12098171 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1322801 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22131434|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25510381|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:33502061|PMID:9536098 12098171 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1322801 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:33502061|PMID:34426522|PMID:9536098 12098171 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1322801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25640679|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:26742954|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28859335|PMID:28889094|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30552426|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:32385905|PMID:33502061|PMID:34122524|PMID:34169998|PMID:34426522|PMID:9536098 12098171 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1322801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant 12098171 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0060202 amyotrophic lateral sclerosis type 11 ISO RGD:1322801 D RGD:7240710 20180130 OMIM 12098171 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0060202 amyotrophic lateral sclerosis type 11 ISO RGD:1322801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 11 PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26467025|PMID:26662798|PMID:26742954|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:33502061|PMID:34426522|PMID:9536098 12098171 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0060589 Yunis-Varon syndrome ISO RGD:1322801 D RGD:7240710 20180130 OMIM 12098171 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0060589 Yunis-Varon syndrome ISO RGD:1322801 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Yunis-Varon syndrome PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:20932945|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:2319578|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30792901|PMID:31313076|PMID:31475037|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:7496176|PMID:9536098 12098171 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria ISO RGD:1322801 D RGD:7240710 20180130 OMIM 12098171 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria ISO RGD:1322801 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bilateral parasagittal parieto-occipital polymicrogyria | ClinVar Annotator: match by term: Polymicrogyria, bilateral temporooccipital PMID:17572665|PMID:18180444|PMID:18261132|PMID:18556664|PMID:18758830|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24598713|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29468183|PMID:29518270|PMID:30373780|PMID:30792901|PMID:31313076|PMID:31743256|PMID:32022442|PMID:32385536 12098171 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0110184 Charcot-Marie-Tooth disease type 4J ISO RGD:1322801 D RGD:7240710 20180130 OMIM 12098171 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0110184 Charcot-Marie-Tooth disease type 4J ISO RGD:1322801 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4J PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:33502061|PMID:34426522|PMID:9536098 12098171 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1322801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy 12098171 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1322801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:16199547|PMID:17572665|PMID:17576681|PMID:19118816|PMID:21705420|PMID:23336365|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25614874|PMID:25741868|PMID:26467025|PMID:28051077|PMID:28492532|PMID:29518270|PMID:31313076|PMID:32385536|PMID:9536098 12098171 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1322801 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease PMID:17572665|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29468183|PMID:30373780|PMID:30792901|PMID:31313076|PMID:31743256|PMID:32022442 12098171 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:630 genetic disease ISO RGD:1322801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30552426|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:34169998|PMID:34426522|PMID:9536098 12098171 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:9000495 Tremor ISO RGD:1322801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:21705420|PMID:28492532 12098171 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:9001276 Failure to Thrive ISO RGD:1322801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 12098171 FIG4 FIG4 phosphoinositide 5-phosphatase gene DOID:9005668 Dental Medial Diastema ISO RGD:1322801 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diastema, dental medial PMID:25741868|PMID:28492532 12098206 HDAC2 histone deacetylase 2 gene DOID:0050424 familial adenomatous polyposis treatment ISO RGD:1312510 D RGD:9068941 20200609 RGD PMID:24218540|REF_RGD_ID:9590246 12098206 HDAC2 histone deacetylase 2 gene DOID:0060163 body dysmorphic disorder ISO RGD:1312509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 12098206 HDAC2 histone deacetylase 2 gene DOID:10286 prostate carcinoma disease_progression ISO RGD:1312509 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18212746|REF_RGD_ID:2306214 12098206 HDAC2 histone deacetylase 2 gene DOID:10534 stomach cancer ISO RGD:1312509 D RGD:9068941 20200609 RGD PMID:23175521|REF_RGD_ID:9590325 12098206 HDAC2 histone deacetylase 2 gene DOID:10534 stomach cancer disease_progression ISO RGD:1312509 D RGD:9068941 20200609 RGD PMID:15865607|REF_RGD_ID:9590322 12098206 HDAC2 histone deacetylase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1312510 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:22388814|REF_RGD_ID:9590324 12098206 HDAC2 histone deacetylase 2 gene DOID:11832 visual epilepsy ISO RGD:619976 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus & cortex: PMID:21987499|REF_RGD_ID:9590259 12098206 HDAC2 histone deacetylase 2 gene DOID:1561 cognitive disorder ISO RGD:1312510 D RGD:9068941 20200609 RGD PMID:22388814|REF_RGD_ID:9590324 12098206 HDAC2 histone deacetylase 2 gene DOID:1574 alcohol use disorder ISO RGD:619976 D RGD:9068941 20200609 RGD PMID:23485013|REF_RGD_ID:9590265 12098206 HDAC2 histone deacetylase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1312509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21527555 12098206 HDAC2 histone deacetylase 2 gene DOID:1909 melanoma ISO RGD:1312509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12098206 HDAC2 histone deacetylase 2 gene DOID:2030 anxiety disorder ISO RGD:619976 D RGD:9068941 20200609 RGD PMID:23485013|REF_RGD_ID:9590265 12098206 HDAC2 histone deacetylase 2 gene DOID:2841 asthma ISO RGD:1312509 D RGD:9068941 20200609 RGD mRNA:decreased expression:macrophage: PMID:20538962|REF_RGD_ID:9590321 12098206 HDAC2 histone deacetylase 2 gene DOID:289 endometriosis ISO RGD:1312509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12098206 HDAC2 histone deacetylase 2 gene DOID:289 endometriosis treatment ISO RGD:619976 D RGD:9068941 20200609 RGD protein:decreased expression:ectopic endometrium, dorsal root ganglion: PMID:20884991|REF_RGD_ID:9590244 12098206 HDAC2 histone deacetylase 2 gene DOID:3021 acute kidney failure treatment ISO RGD:1312510 D RGD:9068941 20200609 RGD associated with sepsis; PMID:22933299|REF_RGD_ID:9590257 12098206 HDAC2 histone deacetylase 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1312509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15337792|PMID:18421014 12098206 HDAC2 histone deacetylase 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:619976 D RGD:9068941 20200609 RGD protein:decreased expression:lung: PMID:22732689|REF_RGD_ID:7204496 12098206 HDAC2 histone deacetylase 2 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:619976 D RGD:9068941 20200609 RGD PMID:24940433|REF_RGD_ID:9590287 12098206 HDAC2 histone deacetylase 2 gene DOID:3328 temporal lobe epilepsy ISO RGD:1312509 D RGD:9068941 20200609 RGD protein:increased expression:timporal lobe: PMID:21987499|REF_RGD_ID:9590259 12098206 HDAC2 histone deacetylase 2 gene DOID:3525 middle cerebral artery infarction exacerbates ISO RGD:1312510 D RGD:9068941 20230209 RGD PMID:32239566|REF_RGD_ID:155883173 12098206 HDAC2 histone deacetylase 2 gene DOID:5082 liver cirrhosis ISO RGD:1312509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27396813 12098206 HDAC2 histone deacetylase 2 gene DOID:6132 bronchitis treatment ISO RGD:619976 D RGD:9068941 20200609 RGD PMID:22708526|REF_RGD_ID:9590258 12098206 HDAC2 histone deacetylase 2 gene DOID:630 genetic disease ISO RGD:1312509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11302704|PMID:19822520 12098206 HDAC2 histone deacetylase 2 gene DOID:6432 pulmonary hypertension ISO RGD:1312509 D RGD:9068941 20200609 RGD protein:decreased expression:lung: PMID:22711276|REF_RGD_ID:9590133 12098206 HDAC2 histone deacetylase 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1312509 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:24448241|REF_RGD_ID:9590206 12098206 HDAC2 histone deacetylase 2 gene DOID:8616 Peyronie's disease ISO RGD:619976 D RGD:9068941 20200609 RGD PMID:24841412|REF_RGD_ID:9590209 12098206 HDAC2 histone deacetylase 2 gene DOID:8692 myeloid leukemia ISO RGD:1312509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21535412 12098206 HDAC2 histone deacetylase 2 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1312509 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19147762|REF_RGD_ID:2306200 12098206 HDAC2 histone deacetylase 2 gene DOID:9000027 Microsatellite Instability ISO RGD:1312509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 12098206 HDAC2 histone deacetylase 2 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:1312510 D RGD:9068941 20200609 RGD PMID:23696608|REF_RGD_ID:9590210 12098206 HDAC2 histone deacetylase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1312509 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:24717296|REF_RGD_ID:9590311 12098206 HDAC2 histone deacetylase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1312510 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:24717296|REF_RGD_ID:9590311 12098206 HDAC2 histone deacetylase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:619976 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:24717296|REF_RGD_ID:9590311 12098206 HDAC2 histone deacetylase 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:619976 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland: PMID:24717552|REF_RGD_ID:9590296 12098206 HDAC2 histone deacetylase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1312509 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17387270|REF_RGD_ID:2306215 12098206 HDAC2 histone deacetylase 2 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1312509 D RGD:9068941 20200609 RGD PMID:18714364|REF_RGD_ID:2306205 12098206 HDAC2 histone deacetylase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:1312509 D RGD:9068941 20200609 RGD DNA:mutations:colon: PMID:16642021|REF_RGD_ID:9590331 12098206 HDAC2 histone deacetylase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:1312509 D RGD:9068941 20200609 RGD mRNA:increased expression:colon: PMID:23724067|REF_RGD_ID:9590193 12098206 HDAC2 histone deacetylase 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1312509 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19147762|REF_RGD_ID:2306200 12098206 HDAC2 histone deacetylase 2 gene DOID:9003936 Cardiomegaly ISO RGD:1312509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18625706 12098206 HDAC2 histone deacetylase 2 gene DOID:9003936 Cardiomegaly ISO RGD:1312510 D RGD:9068941 20200609 RGD protein:increased acetylation:heart: PMID:24526703|REF_RGD_ID:9590211 12098206 HDAC2 histone deacetylase 2 gene DOID:9003936 Cardiomegaly ISO RGD:1312510 D RGD:9068941 20200609 RGD protein:increased activity:heart: PMID:18849323|REF_RGD_ID:2306446 12098206 HDAC2 histone deacetylase 2 gene DOID:9004271 Colonic Polyps ISO RGD:1312510 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:19010907|REF_RGD_ID:9590323 12098206 HDAC2 histone deacetylase 2 gene DOID:9004271 Colonic Polyps treatment ISO RGD:619976 D RGD:9068941 20200609 RGD PMID:24218540|REF_RGD_ID:9590246 12098206 HDAC2 histone deacetylase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619976 D RGD:9068941 20200609 RGD protein:increased activity:renal cortex: PMID:19553350|REF_RGD_ID:9590229 12098206 HDAC2 histone deacetylase 2 gene DOID:9007096 Stroke ISO RGD:1312509 D RGD:9068941 20230225 RGD mRNA:decreased expression:lymphocyte PMID:31465536|REF_RGD_ID:156430320 12098206 HDAC2 histone deacetylase 2 gene DOID:9007096 Stroke ISO RGD:619976 D RGD:9068941 20200609 RGD PMID:24657831|REF_RGD_ID:9590303 12098206 HDAC2 histone deacetylase 2 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:1312509 D RGD:9068941 20200609 RGD PMID:18714364|REF_RGD_ID:2306205 12098206 HDAC2 histone deacetylase 2 gene DOID:9008023 Memory Disorders treatment ISO RGD:1312510 D RGD:9068941 20200609 RGD PMID:22388814|REF_RGD_ID:9590324 12098206 HDAC2 histone deacetylase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1312510 D RGD:9068941 20200609 RGD protein:increased activity:kidney: PMID:19553350|REF_RGD_ID:9590229 12098206 HDAC2 histone deacetylase 2 gene DOID:9675 pulmonary emphysema ISO RGD:1312510 D RGD:9068941 20200609 RGD mRNA,proetin:increased expression,increased activity,hyperphosphorylation,hypercarbonylation:lung: PMID:24040961|REF_RGD_ID:9590320 12098206 HDAC2 histone deacetylase 2 gene DOID:9675 pulmonary emphysema treatment ISO RGD:619976 D RGD:9068941 20200609 RGD PMID:23326540|REF_RGD_ID:9590245 12098206 HDAC2 histone deacetylase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1312509 D RGD:9068941 20200609 RGD protein:decreased expression:pancreatic beta cell: PMID:22772764|REF_RGD_ID:9590127 12098206 HDAC2 histone deacetylase 2 gene DOID:986 alopecia areata ISO RGD:1312509 D RGD:9068941 20200609 RGD mRNA:decreased expression:mononuclear cell: PMID:21936853|REF_RGD_ID:9587460 12098206 HDAC2 histone deacetylase 2 gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:1312509 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow,blood: PMID:23948281|REF_RGD_ID:9681454 12098227 KHDRBS3 KH RNA binding domain containing, signal transduction associated 3 gene DOID:630 genetic disease ISO RGD:1354239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098260 CKAP2L cytoskeleton associated protein 2 like gene DOID:0112194 Filippi syndrome ISO RGD:1602064 D RGD:7240710 20180130 OMIM 12098260 CKAP2L cytoskeleton associated protein 2 like gene DOID:0112194 Filippi syndrome ISO RGD:1602064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Filippi syndrome PMID:15365457|PMID:18553552|PMID:25439729|PMID:25741868|PMID:28492532|PMID:8867657 12098260 CKAP2L cytoskeleton associated protein 2 like gene DOID:1924 hypogonadism ISO RGD:1602064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadism 12098260 CKAP2L cytoskeleton associated protein 2 like gene DOID:630 genetic disease ISO RGD:1602064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12098260 CKAP2L cytoskeleton associated protein 2 like gene DOID:684 hepatocellular carcinoma ISO RGD:1602064 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12098278 DSE dermatan sulfate epimerase gene DOID:0060163 body dysmorphic disorder ISO RGD:1312897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 12098278 DSE dermatan sulfate epimerase gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1312897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12098278 DSE dermatan sulfate epimerase gene DOID:0080737 Ehlers-Danlos syndrome musculocontractural type 2 ISO RGD:1312897 D RGD:7240710 20180130 OMIM 12098278 DSE dermatan sulfate epimerase gene DOID:0080737 Ehlers-Danlos syndrome musculocontractural type 2 ISO RGD:1312897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 PMID:23704329|PMID:25703627|PMID:25741868|PMID:28492532 12098278 DSE dermatan sulfate epimerase gene DOID:1059 intellectual disability ISO RGD:1312897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 12098278 DSE dermatan sulfate epimerase gene DOID:10907 microcephaly ISO RGD:1312897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 12098278 DSE dermatan sulfate epimerase gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1312897 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532 12098278 DSE dermatan sulfate epimerase gene DOID:1826 epilepsy ISO RGD:1312897 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12098278 DSE dermatan sulfate epimerase gene DOID:630 genetic disease ISO RGD:1312897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12098278 DSE dermatan sulfate epimerase gene DOID:9000495 Tremor ISO RGD:1312897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12098278 DSE dermatan sulfate epimerase gene DOID:9000938 Sudden Infant Death with Dysgenesis of the Testes Syndrome ISO RGD:1312897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sudden infant death with dysgenesis of the testes syndrome PMID:15273283|PMID:25741868 12098291 UBA3 ubiquitin like modifier activating enzyme 3 gene DOID:630 genetic disease ISO RGD:737348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098320 PHKB phosphorylase kinase regulatory subunit beta gene DOID:0111041 glycogen storage disease IXb ISO RGD:1343205 D RGD:7240710 20180130 OMIM 12098320 PHKB phosphorylase kinase regulatory subunit beta gene DOID:0111041 glycogen storage disease IXb ISO RGD:1343205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:12825073|PMID:16199547|PMID:17576681|PMID:17689125|PMID:18950708|PMID:21646031|PMID:25070466|PMID:25640679|PMID:25741868|PMID:26526422|PMID:26913919|PMID:28492532|PMID:30919572|PMID:31508908|PMID:33782433|PMID:33858366|PMID:34093448|PMID:9215682|PMID:9326319|PMID:9402963|PMID:9536098 12098320 PHKB phosphorylase kinase regulatory subunit beta gene DOID:630 genetic disease ISO RGD:1343205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12098358 ZNF639 zinc finger protein 639 gene DOID:0111546 Currarino syndrome ISO RGD:1353900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12098358 ZNF639 zinc finger protein 639 gene DOID:630 genetic disease ISO RGD:1353900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098358 ZNF639 zinc finger protein 639 gene DOID:6457 Cowden syndrome ISO RGD:1353900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden syndrome PMID:28492532 12098371 MRPL47 mitochondrial ribosomal protein L47 gene DOID:0111546 Currarino syndrome ISO RGD:1316780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12098371 MRPL47 mitochondrial ribosomal protein L47 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1316780 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 12098371 MRPL47 mitochondrial ribosomal protein L47 gene DOID:630 genetic disease ISO RGD:1316780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098393 DPP4 dipeptidyl peptidase 4 gene DOID:0080599 Coronavirus infectious disease ISO RGD:737491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30626688 12098393 DPP4 dipeptidyl peptidase 4 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:10481 D RGD:9068941 20220825 MouseDO 12098393 DPP4 dipeptidyl peptidase 4 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:737491 D RGD:9068941 20200618 RGD PMID:30626685|REF_RGD_ID:30309198 12098393 DPP4 dipeptidyl peptidase 4 gene DOID:0080642 Middle East respiratory syndrome severity ISO RGD:737491 D RGD:9068941 20200618 RGD PMID:31838832|REF_RGD_ID:30309204 12098393 DPP4 dipeptidyl peptidase 4 gene DOID:0080642 Middle East respiratory syndrome treatment ISO RGD:737491 D RGD:9068941 20200626 RGD human gene in mouse model PMID:30256968|REF_RGD_ID:30309959 12098393 DPP4 dipeptidyl peptidase 4 gene DOID:12849 autistic disorder ISO RGD:737491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 12098393 DPP4 dipeptidyl peptidase 4 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737491 D RGD:9068941 20220526 RGD protein:increased expression: esophagus PMID:24789592|REF_RGD_ID:152600903 12098393 DPP4 dipeptidyl peptidase 4 gene DOID:576 proteinuria ISO RGD:737491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2880436 12098393 DPP4 dipeptidyl peptidase 4 gene DOID:630 genetic disease ISO RGD:737491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098393 DPP4 dipeptidyl peptidase 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10481 D RGD:9068941 20200609 RGD PMID:19765579|REF_RGD_ID:2313699 12098393 DPP4 dipeptidyl peptidase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737491 D RGD:9068941 20200609 RGD PMID:19705345|REF_RGD_ID:2313700 12098393 DPP4 dipeptidyl peptidase 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:10481 D RGD:9068941 20200609 RGD PMID:19073764|REF_RGD_ID:2313702 12098422 UBE4A ubiquitination factor E4A gene DOID:0060017 CD3epsilon deficiency ISO RGD:1351066 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12098422 UBE4A ubiquitination factor E4A gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1351066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12098422 UBE4A ubiquitination factor E4A gene DOID:0080690 RASopathy ISO RGD:1351066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12098422 UBE4A ubiquitination factor E4A gene DOID:0081330 glycogen storage disease Ib ISO RGD:1351066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12098422 UBE4A ubiquitination factor E4A gene DOID:0110651 long QT syndrome 10 ISO RGD:1351066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12098422 UBE4A ubiquitination factor E4A gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1351066 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12098422 UBE4A ubiquitination factor E4A gene DOID:0111971 immunodeficiency 18 ISO RGD:1351066 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12098422 UBE4A ubiquitination factor E4A gene DOID:0111972 immunodeficiency 19 ISO RGD:1351066 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12098422 UBE4A ubiquitination factor E4A gene DOID:0111973 immunodeficiency 17 ISO RGD:1351066 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12098422 UBE4A ubiquitination factor E4A gene DOID:1059 intellectual disability ISO RGD:1351066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12098422 UBE4A ubiquitination factor E4A gene DOID:1826 epilepsy ISO RGD:1351066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:33420346 12098422 UBE4A ubiquitination factor E4A gene DOID:630 genetic disease ISO RGD:1351066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098422 UBE4A ubiquitination factor E4A gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12098422 UBE4A ubiquitination factor E4A gene DOID:9004263 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY ISO RGD:1351066 D RGD:7240710 20220216 OMIM 12098422 UBE4A ubiquitination factor E4A gene DOID:9004263 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY ISO RGD:1351066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay PMID:27431290|PMID:33420346 12098422 UBE4A ubiquitination factor E4A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12098422 UBE4A ubiquitination factor E4A gene DOID:9007661 Dwarfism ISO RGD:1351066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12098446 COPS3 COP9 signalosome subunit 3 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1350505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 12098446 COPS3 COP9 signalosome subunit 3 gene DOID:0050777 Joubert syndrome ISO RGD:1350505 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12098446 COPS3 COP9 signalosome subunit 3 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1350505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12098446 COPS3 COP9 signalosome subunit 3 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1350505 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12098446 COPS3 COP9 signalosome subunit 3 gene DOID:12849 autistic disorder ISO RGD:1350505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12098446 COPS3 COP9 signalosome subunit 3 gene DOID:630 genetic disease ISO RGD:1350505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098446 COPS3 COP9 signalosome subunit 3 gene DOID:9005369 Hepatomegaly ISO RGD:1350505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12098462 GSPT1 G1 to S phase transition 1 gene DOID:5419 schizophrenia ISO RGD:1344503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12098462 GSPT1 G1 to S phase transition 1 gene DOID:630 genetic disease ISO RGD:1344503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098488 KIAA0100 KIAA0100 gene DOID:10283 prostate cancer ISO RGD:1605423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12098488 KIAA0100 KIAA0100 gene DOID:630 genetic disease ISO RGD:1605423 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098536 B3GALT4 beta-1,3-galactosyltransferase 4 gene DOID:0050553 JMP syndrome ISO RGD:1343637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12098536 B3GALT4 beta-1,3-galactosyltransferase 4 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1343637 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 12098536 B3GALT4 beta-1,3-galactosyltransferase 4 gene DOID:630 genetic disease ISO RGD:1343637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098549 ROM1 retinal outer segment membrane protein 1 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1314474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:20335603|PMID:28492532 12098549 ROM1 retinal outer segment membrane protein 1 gene DOID:0110383 retinitis pigmentosa 7 ISO RGD:1314474 D RGD:7240710 20180130 OMIM 12098549 ROM1 retinal outer segment membrane protein 1 gene DOID:0110383 retinitis pigmentosa 7 ISO RGD:1314474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 7 | ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic PMID:16799052|PMID:25741868|PMID:28492532|PMID:7904211|PMID:8202715 12098549 ROM1 retinal outer segment membrane protein 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1314474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12098549 ROM1 retinal outer segment membrane protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1314474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16799052|PMID:20335603|PMID:24265693|PMID:24938718|PMID:25741868|PMID:28492532|PMID:7904211|PMID:8202715|PMID:8595413|PMID:9187681|PMID:9331261 12098549 ROM1 retinal outer segment membrane protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1314474 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16799052|PMID:20335603|PMID:24265693|PMID:24938718|PMID:25741868|PMID:28492532|PMID:33688152|PMID:7904211|PMID:8202715|PMID:8595413|PMID:9187681|PMID:9331261 12098549 ROM1 retinal outer segment membrane protein 1 gene DOID:1059 intellectual disability ISO RGD:1314474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12098549 ROM1 retinal outer segment membrane protein 1 gene DOID:4448 macular degeneration ISO RGD:1314474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:28492532|PMID:30718709 12098549 ROM1 retinal outer segment membrane protein 1 gene DOID:630 genetic disease ISO RGD:1314474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12098549 ROM1 retinal outer segment membrane protein 1 gene DOID:8466 retinal degeneration ISO RGD:1314475 D RGD:9068941 20200609 RGD PMID:10802659|REF_RGD_ID:8553197 12098549 ROM1 retinal outer segment membrane protein 1 gene DOID:8501 fundus dystrophy ISO RGD:1314474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532|PMID:30718709|PMID:8595413 12098556 GORASP1 golgi reassembly stacking protein 1 gene DOID:630 genetic disease ISO RGD:1348402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098574 HAO1 hydroxyacid oxidase 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1353845 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 12098574 HAO1 hydroxyacid oxidase 1 gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:1353845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:24886237 12098574 HAO1 hydroxyacid oxidase 1 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1353845 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 12098574 HAO1 hydroxyacid oxidase 1 gene DOID:585 nephrolithiasis ISO RGD:1353845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis | ClinVar Annotator: match by term: Calcium oxalate urolithiasis PMID:24886237 12098574 HAO1 hydroxyacid oxidase 1 gene DOID:630 genetic disease ISO RGD:1353845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098574 HAO1 hydroxyacid oxidase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12098574 HAO1 hydroxyacid oxidase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12098574 HAO1 hydroxyacid oxidase 1 gene DOID:9245 Alagille syndrome ISO RGD:1353845 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532|PMID:32733715 12098589 RPRD1B regulation of nuclear pre-mRNA domain containing 1B gene DOID:2234 focal epilepsy ISO RGD:1312424 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12098589 RPRD1B regulation of nuclear pre-mRNA domain containing 1B gene DOID:630 genetic disease ISO RGD:1312424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098600 SDC4 syndecan 4 gene DOID:0080600 COVID-19 ISO RGD:730877 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12098600 SDC4 syndecan 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:730877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 12098600 SDC4 syndecan 4 gene DOID:104 bacterial infectious disease ISO RGD:3650 D RGD:9068941 20200609 RGD PMID:15001228|REF_RGD_ID:2312325 12098600 SDC4 syndecan 4 gene DOID:2234 focal epilepsy ISO RGD:730877 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12098600 SDC4 syndecan 4 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22919003 12098600 SDC4 syndecan 4 gene DOID:5844 myocardial infarction ISO RGD:730877 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11372670|REF_RGD_ID:2312328 12098600 SDC4 syndecan 4 gene DOID:630 genetic disease ISO RGD:730877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098600 SDC4 syndecan 4 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:730877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12098600 SDC4 syndecan 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 12098609 SLC12A5 solute carrier family 12 member 5 gene DOID:0080460 developmental and epileptic encephalopathy 34 ISO RGD:731044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 34 PMID:16199547|PMID:17576681|PMID:24668262|PMID:24928908|PMID:25741868|PMID:26333769|PMID:26528127|PMID:27436767|PMID:27535533|PMID:28492532|PMID:30763027|PMID:31104500|PMID:31618474|PMID:9536098 12098609 SLC12A5 solute carrier family 12 member 5 gene DOID:0080460 developmental and epileptic encephalopathy 34 susceptibility ISO RGD:731044 D RGD:7240710 20230505 OMIM 12098609 SLC12A5 solute carrier family 12 member 5 gene DOID:0111315 idiopathic generalized epilepsy 14 ISO RGD:731044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 14 PMID:24668262|PMID:24928908|PMID:25741868|PMID:26528127|PMID:27535533|PMID:28492532|PMID:31104500 12098609 SLC12A5 solute carrier family 12 member 5 gene DOID:0111315 idiopathic generalized epilepsy 14 susceptibility ISO RGD:731044 D RGD:7240710 20230505 OMIM 12098609 SLC12A5 solute carrier family 12 member 5 gene DOID:10907 microcephaly ISO RGD:731044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12098609 SLC12A5 solute carrier family 12 member 5 gene DOID:1824 status epilepticus ISO RGD:731044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20600929 12098609 SLC12A5 solute carrier family 12 member 5 gene DOID:1826 epilepsy ISO RGD:731044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12000122|PMID:18550034 12098609 SLC12A5 solute carrier family 12 member 5 gene DOID:1826 epilepsy ISO RGD:731045 D RGD:9068941 20220825 MouseDO 12098609 SLC12A5 solute carrier family 12 member 5 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:731044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12098609 SLC12A5 solute carrier family 12 member 5 gene DOID:2234 focal epilepsy ISO RGD:731044 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12098609 SLC12A5 solute carrier family 12 member 5 gene DOID:3328 temporal lobe epilepsy ISO RGD:731044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19674083 12098609 SLC12A5 solute carrier family 12 member 5 gene DOID:630 genetic disease ISO RGD:731044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12098609 SLC12A5 solute carrier family 12 member 5 gene DOID:9002211 Hyperalgesia ISO RGD:731044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20086212 12098639 ZBTB10 zinc finger and BTB domain containing 10 gene DOID:11782 astigmatism ISO RGD:1348951 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Astigmatism PMID:25741868 12098639 ZBTB10 zinc finger and BTB domain containing 10 gene DOID:630 genetic disease ISO RGD:1348951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098649 GLS glutaminase gene DOID:0111944 immunodeficiency 31B ISO RGD:736636 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 12098649 GLS glutaminase gene DOID:0112207 developmental and epileptic encephalopathy 71 ISO RGD:736636 D RGD:7240710 20190315 OMIM 12098649 GLS glutaminase gene DOID:0112207 developmental and epileptic encephalopathy 71 ISO RGD:736636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 71 PMID:25741868|PMID:30575854 12098649 GLS glutaminase gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736636 D RGD:9068941 20220630 RGD protein:increased expression:lung (human) PMID:29885404|REF_RGD_ID:152995523 12098649 GLS glutaminase gene DOID:630 genetic disease ISO RGD:736636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098649 GLS glutaminase gene DOID:8398 osteoarthritis ISO RGD:736636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12098649 GLS glutaminase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12098649 GLS glutaminase gene DOID:9001649 Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development ISO RGD:736636 D RGD:7240710 20190315 OMIM 12098649 GLS glutaminase gene DOID:9001649 Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development ISO RGD:736636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development PMID:25741868|PMID:30239721 12098649 GLS glutaminase gene DOID:9003281 Spontaneous Abortions ISO RGD:736636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12098649 GLS glutaminase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12098649 GLS glutaminase gene DOID:9005979 Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine ISO RGD:736636 D RGD:7240710 20190821 OMIM 12098649 GLS glutaminase gene DOID:9005979 Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine ISO RGD:736636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay, progressive ataxia, and elevated glutamine 12098649 GLS glutaminase gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:736636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 12098675 LHX4 LIM homeobox 4 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1317585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12098675 LHX4 LIM homeobox 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1317585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12098675 LHX4 LIM homeobox 4 gene DOID:630 genetic disease ISO RGD:1317585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12098675 LHX4 LIM homeobox 4 gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:1317585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 1 | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 PMID:25741868 12098675 LHX4 LIM homeobox 4 gene DOID:9005891 Combined Pituitary Hormone Deficiency, 6 ISO RGD:1317585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant PMID:28492532 12098675 LHX4 LIM homeobox 4 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1317585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12098675 LHX4 LIM homeobox 4 gene DOID:9008403 Combined Pituitary Hormone Deficiency 4 ISO RGD:1317585 D RGD:7240710 20180130 OMIM 12098675 LHX4 LIM homeobox 4 gene DOID:9008403 Combined Pituitary Hormone Deficiency 4 ISO RGD:1317585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects | ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica PMID:11567216|PMID:17201807|PMID:17527005|PMID:18073311|PMID:18445675|PMID:20534763|PMID:23029363|PMID:23990694|PMID:24033266|PMID:25741868|PMID:25910213|PMID:27820671|PMID:28492532|PMID:34008892 12098675 LHX4 LIM homeobox 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12098685 AREL1 apoptosis resistant E3 ubiquitin protein ligase 1 gene DOID:0070276 hereditary nonpolyposis colorectal cancer type 7 ISO RGD:1316884 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 7 PMID:12702580|PMID:17656264|PMID:22290698|PMID:25927356|PMID:28492532|PMID:32984025 12098685 AREL1 apoptosis resistant E3 ubiquitin protein ligase 1 gene DOID:1059 intellectual disability ISO RGD:1316884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12098685 AREL1 apoptosis resistant E3 ubiquitin protein ligase 1 gene DOID:2871 endometrial carcinoma ISO RGD:1316884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:12702580|PMID:17656264|PMID:22290698|PMID:28492532 12098685 AREL1 apoptosis resistant E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1316884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098685 AREL1 apoptosis resistant E3 ubiquitin protein ligase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316884 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12702580|PMID:17656264|PMID:22290698|PMID:25927356|PMID:28492532|PMID:32984025 12098706 BDKRB1 bradykinin receptor B1 gene DOID:0050855 renal fibrosis ISO RGD:731358 D RGD:9068941 20200609 RGD PMID:18809736|REF_RGD_ID:7241554 12098706 BDKRB1 bradykinin receptor B1 gene DOID:0070355 overactive bladder syndrome ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:15576455|REF_RGD_ID:1625040 12098706 BDKRB1 bradykinin receptor B1 gene DOID:10247 pleurisy ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:11853231|REF_RGD_ID:5129218 12098706 BDKRB1 bradykinin receptor B1 gene DOID:10763 hypertension ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:12025958|PMID:17988733|REF_RGD_ID:5129214|REF_RGD_ID:704378 12098706 BDKRB1 bradykinin receptor B1 gene DOID:10763 hypertension ISO RGD:730874 D RGD:9068941 20200609 RGD DNA:polymorphisms:CDS:in American-Caucasians,T allele of SNP8, C allele of SNP12, T allele of SNP13 PMID:15643125|REF_RGD_ID:1625732 12098706 BDKRB1 bradykinin receptor B1 gene DOID:10952 nephritis ISO RGD:731358 D RGD:9068941 20200609 RGD PMID:18809736|REF_RGD_ID:7241554 12098706 BDKRB1 bradykinin receptor B1 gene DOID:11446 sciatic neuropathy ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:18182225|REF_RGD_ID:5129227 12098706 BDKRB1 bradykinin receptor B1 gene DOID:11713 diabetic angiopathy ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:15878326|REF_RGD_ID:7241570 12098706 BDKRB1 bradykinin receptor B1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:731358 D RGD:9068941 20200609 RGD PMID:21412216|REF_RGD_ID:7175321 12098706 BDKRB1 bradykinin receptor B1 gene DOID:1826 epilepsy ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:12746865|REF_RGD_ID:704381 12098706 BDKRB1 bradykinin receptor B1 gene DOID:2224 essential thrombocythemia ISO RGD:730874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 12098706 BDKRB1 bradykinin receptor B1 gene DOID:2921 glomerulonephritis ISO RGD:730874 D RGD:9068941 20200609 RGD PMID:20448019|REF_RGD_ID:7241551 12098706 BDKRB1 bradykinin receptor B1 gene DOID:2921 glomerulonephritis ISO RGD:731358 D RGD:9068941 20200609 RGD PMID:20448019|REF_RGD_ID:7241551 12098706 BDKRB1 bradykinin receptor B1 gene DOID:3328 temporal lobe epilepsy ISO RGD:730874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15196965 12098706 BDKRB1 bradykinin receptor B1 gene DOID:3770 pulmonary fibrosis ISO RGD:730874 D RGD:9068941 20200609 RGD PMID:20451601|REF_RGD_ID:5129229 12098706 BDKRB1 bradykinin receptor B1 gene DOID:4483 rhinitis ISO RGD:730874 D RGD:9068941 20200609 RGD PMID:12165532|REF_RGD_ID:5129220 12098706 BDKRB1 bradykinin receptor B1 gene DOID:4971 myelofibrosis ISO RGD:730874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis 12098706 BDKRB1 bradykinin receptor B1 gene DOID:5844 myocardial infarction ISO RGD:620401 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:12489796|REF_RGD_ID:704379 12098706 BDKRB1 bradykinin receptor B1 gene DOID:630 genetic disease ISO RGD:730874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098706 BDKRB1 bradykinin receptor B1 gene DOID:783 end stage renal disease ISO RGD:730874 D RGD:9068941 20200609 RGD PMID:10604543|REF_RGD_ID:7241582 12098706 BDKRB1 bradykinin receptor B1 gene DOID:783 end stage renal disease no_association ISO RGD:730874 D RGD:9068941 20200609 RGD DNA: SNP: G(-699)C PMID:10809796|REF_RGD_ID:7241561 12098706 BDKRB1 bradykinin receptor B1 gene DOID:783 end stage renal disease resistance ISO RGD:730874 D RGD:9068941 20200609 RGD DNA: SNP: G-699-->C PMID:9555662|REF_RGD_ID:7241560 12098706 BDKRB1 bradykinin receptor B1 gene DOID:8947 diabetic retinopathy treatment ISO RGD:620401 D RGD:9068941 20200716 RGD associated with Diabetes Mellitus, Experimental PMID:18311190|REF_RGD_ID:2313334 12098706 BDKRB1 bradykinin receptor B1 gene DOID:9000197 Edema severity ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:12411434|REF_RGD_ID:628496 12098706 BDKRB1 bradykinin receptor B1 gene DOID:9000352 Vascular System Injuries ISO RGD:730874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16982965 12098706 BDKRB1 bradykinin receptor B1 gene DOID:9000641 Pain ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:17988733|REF_RGD_ID:5129214 12098706 BDKRB1 bradykinin receptor B1 gene DOID:9000641 Pain ISO RGD:730874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20152050 12098706 BDKRB1 bradykinin receptor B1 gene DOID:9000784 Fibrosis ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:15253105|REF_RGD_ID:1625759 12098706 BDKRB1 bradykinin receptor B1 gene DOID:9002211 Hyperalgesia ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:12927641|REF_RGD_ID:1579989 12098706 BDKRB1 bradykinin receptor B1 gene DOID:9002211 Hyperalgesia ISO RGD:730874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17989505|PMID:19300402|PMID:19815945 12098706 BDKRB1 bradykinin receptor B1 gene DOID:9002211 Hyperalgesia ISO RGD:731358 D RGD:9068941 20200609 RGD PMID:12637034|REF_RGD_ID:7241581 12098706 BDKRB1 bradykinin receptor B1 gene DOID:9002457 Experimental Arthritis ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:15001555|REF_RGD_ID:1625760 12098706 BDKRB1 bradykinin receptor B1 gene DOID:9002661 Diabetes Complications ISO RGD:731358 D RGD:9068941 20200609 RGD PMID:20479236|REF_RGD_ID:7241550 12098706 BDKRB1 bradykinin receptor B1 gene DOID:9002720 Splenomegaly ISO RGD:730874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20096676 12098706 BDKRB1 bradykinin receptor B1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:620401 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:12489796|REF_RGD_ID:704379 12098706 BDKRB1 bradykinin receptor B1 gene DOID:9005372 Inflammation ISO RGD:730874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20152050 12098706 BDKRB1 bradykinin receptor B1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:12522068|REF_RGD_ID:704380 12098706 BDKRB1 bradykinin receptor B1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620401 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:12489796|REF_RGD_ID:704379 12098706 BDKRB1 bradykinin receptor B1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21430409 12098706 BDKRB1 bradykinin receptor B1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731358 D RGD:9068941 20200609 RGD PMID:20092893|REF_RGD_ID:7241569 12098706 BDKRB1 bradykinin receptor B1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:731358 D RGD:9068941 20200609 RGD PMID:18725957|REF_RGD_ID:7241559 12098706 BDKRB1 bradykinin receptor B1 gene DOID:9007692 Insulin Resistance ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:17618300|PMID:17988733|REF_RGD_ID:5129214|REF_RGD_ID:5129217 12098706 BDKRB1 bradykinin receptor B1 gene DOID:9008887 Microvascular Angina ISO RGD:730874 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell PMID:17852785|REF_RGD_ID:4890450 12098706 BDKRB1 bradykinin receptor B1 gene DOID:9119 acute myeloid leukemia ISO RGD:730874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 12098706 BDKRB1 bradykinin receptor B1 gene DOID:9743 diabetic neuropathy ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:20587056|REF_RGD_ID:5129222 12098706 BDKRB1 bradykinin receptor B1 gene DOID:9970 obesity ISO RGD:731358 D RGD:9068941 20200609 RGD ob/ob mice mRNA:decreased expression:brown adipose tissue, heart mRNA:increased expression:white adipose tissue, hypothalamus PMID:17184856|REF_RGD_ID:1625733 12098709 ZBTB34 zinc finger and BTB domain containing 34 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12098709 ZBTB34 zinc finger and BTB domain containing 34 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1353753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12098709 ZBTB34 zinc finger and BTB domain containing 34 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12098709 ZBTB34 zinc finger and BTB domain containing 34 gene DOID:630 genetic disease ISO RGD:1353753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098714 FAM156A family with sequence similarity 156 member A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12098714 FAM156A family with sequence similarity 156 member A gene DOID:12849 autistic disorder ISO RGD:1346543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12098715 MIIP migration and invasion inhibitory protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602214 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12098715 MIIP migration and invasion inhibitory protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602214 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12098715 MIIP migration and invasion inhibitory protein gene DOID:630 genetic disease ISO RGD:1602214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:0080770 autosomal dominant beta thalassemia ISO RGD:736606 D RGD:7240710 20180130 OMIM 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:0080770 autosomal dominant beta thalassemia ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Beta-thalassemia, dominant inclusion body type | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE PMID:10203101|PMID:10335989|PMID:10367791|PMID:10583251|PMID:10602954|PMID:10612821|PMID:10815781|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11300348|PMID:11425418|PMID:11545326|PMID:11559932|PMID:11713529|PMID:11741197|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939510|PMID:12000828|PMID:12124399|PMID:12144057|PMID:12149194|PMID:12324499|PMID:12383672|PMID:12702481|PMID:12764548|PMID:12818227|PMID:12827652|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1353069|PMID:13618691|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:1390250|PMID:14084634|PMID:1427786|PMID:1428944|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:1517108|PMID:15181845|PMID:15278762|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634368|PMID:16421096|PMID:16470532|PMID:16750922|PMID:1680789|PMID:16821247|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:1740317|PMID:17486505|PMID:17576681|PMID:1769663|PMID:17774955|PMID:17932132|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18192399|PMID:18294253|PMID:18568278|PMID:18603555|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1917531|PMID:19254853|PMID:19429541|PMID:19440680|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19657842|PMID:1967205|PMID:1971109|PMID:19727720|PMID:19758965|PMID:19841268|PMID:1986365|PMID:1986379|PMID:19958185|PMID:19960060|PMID:2004023|PMID:20113284|PMID:20132300|PMID:20181291|PMID:20233970|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20628988|PMID:20704537|PMID:20737602|PMID:20788973|PMID:20854120|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21509314|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:2207008|PMID:22075726|PMID:22110956|PMID:22188014|PMID:22200002|PMID:22244832|PMID:22260787|PMID:22271886|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:22737496|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23425204|PMID:23457306|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23729725|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24080465|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24265529|PMID:24368026|PMID:24369358|PMID:24401016|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25155404|PMID:25332589|PMID:25370867|PMID:25408857|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25572186|PMID:25617386|PMID:2563949|PMID:25666204|PMID:25741868|PMID:2577233|PMID:2579336|PMID:2582106|PMID:25849334|PMID:25856402|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26554253|PMID:26554862|PMID:26661037|PMID:26877226|PMID:26897028|PMID:26956563|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:27690257|PMID:27821015|PMID:27823958|PMID:27829304 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:0080770 autosomal dominant beta thalassemia ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Beta-thalassemia, dominant inclusion body type | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE PMID:27884173|PMID:27979672|PMID:28251416|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:28802248|PMID:28865746|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29240028|PMID:29319890|PMID:29484903|PMID:29695942|PMID:2987224|PMID:2987809|PMID:30002798|PMID:30033078|PMID:3014870|PMID:30249157|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30604644|PMID:30843739|PMID:31096791|PMID:31130284|PMID:31134759|PMID:31268351|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31890591|PMID:32039214|PMID:32126744|PMID:32190157|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3267215|PMID:32860008|PMID:33091040|PMID:33116287|PMID:33335418|PMID:3354556|PMID:33851260|PMID:34092029|PMID:3417300|PMID:3422218|PMID:34334128|PMID:34426522|PMID:3462712|PMID:34749363|PMID:36073655|PMID:3623977|PMID:3690667|PMID:3691763|PMID:3752087|PMID:3821796|PMID:3840039|PMID:3859465|PMID:3957690|PMID:4129558|PMID:4232783|PMID:4351905|PMID:4361439|PMID:4683875|PMID:49057|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5658717|PMID:5863839|PMID:5915974|PMID:6019668|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6246994|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6304979|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6434492|PMID:6457059|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585831|PMID:6695908|PMID:6714226|PMID:6745619|PMID:6821648|PMID:6826539|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7137165|PMID:7151176|PMID:7177196|PMID:7229029|PMID:7312624|PMID:7384810|PMID:7395858|PMID:7522523|PMID:7558878|PMID:7668219|PMID:7908281|PMID:7993409|PMID:8095930|PMID:8161774|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8262525|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8839873|PMID:88735|PMID:8917506|PMID:893136|PMID:8978308|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140720|PMID:9163586|PMID:9225979|PMID:9342003|PMID:9401495|PMID:9450794|PMID:9490703|PMID:9536098|PMID:9556665|PMID:9586437|PMID:9653159|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9875660|PMID:9949622 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:0080771 beta-thalassemia major ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E PMID:10081986|PMID:10203101|PMID:10335989|PMID:10367791|PMID:10520021|PMID:1052173|PMID:10583251|PMID:10602954|PMID:10606872|PMID:10612821|PMID:10815781|PMID:10861818|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11300348|PMID:11300355|PMID:11425418|PMID:11523095|PMID:11545326|PMID:11559932|PMID:1163074|PMID:1164567|PMID:11713529|PMID:1173714|PMID:11741197|PMID:1177278|PMID:11791878|PMID:11830454|PMID:11857738|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939510|PMID:11943067|PMID:12000828|PMID:12124399|PMID:12144056|PMID:12144057|PMID:12144064|PMID:12149194|PMID:12172041|PMID:12210807|PMID:12324499|PMID:12368169|PMID:12383672|PMID:12403491|PMID:1244906|PMID:12488606|PMID:12702481|PMID:12709369|PMID:12764548|PMID:12818227|PMID:12827652|PMID:12850492|PMID:12955718|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:13509426|PMID:1353069|PMID:13590135|PMID:13618691|PMID:13634986|PMID:13685866|PMID:13716853|PMID:1374896|PMID:1376298|PMID:1384315|PMID:13852872|PMID:13872094|PMID:13897827|PMID:1390250|PMID:13911805|PMID:14081243|PMID:14084634|PMID:14160125|PMID:1420507|PMID:1427786|PMID:14282052|PMID:1428944|PMID:1428947|PMID:14343445|PMID:14405428|PMID:14452533|PMID:14492555|PMID:14555304|PMID:14555318|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14649318|PMID:14715623|PMID:14734204|PMID:14808148|PMID:1483699|PMID:1487424|PMID:14973|PMID:15000665|PMID:15065210|PMID:15108284|PMID:15114532|PMID:1517108|PMID:1517111|PMID:15181845|PMID:15257926|PMID:15278762|PMID:15315794|PMID:15352994|PMID:15395398|PMID:15470211|PMID:15481884|PMID:15481885|PMID:15481886|PMID:15481891|PMID:15481893|PMID:15481896|PMID:1550780|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15658190|PMID:15697092|PMID:15761692|PMID:15768552|PMID:1577489|PMID:1581247|PMID:1586746|PMID:15929117|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634366|PMID:1634368|PMID:16370495|PMID:16421096|PMID:16470532|PMID:16540414|PMID:16540415|PMID:16732578|PMID:16750922|PMID:1680789|PMID:16821247|PMID:17008283|PMID:1705411|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1729892|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:1740317|PMID:17486493|PMID:17486498|PMID:17486505|PMID:17565724|PMID:17576681|PMID:17655700|PMID:1769663|PMID:17774955|PMID:1787101|PMID:17900295|PMID:17932132|PMID:17949282|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18056002|PMID:18076350|PMID:18081706|PMID:18096416|PMID:18105244|PMID:18192399|PMID:18266208|PMID:18294253|PMID:18339318|PMID:18403562|PMID:18495504|PMID:1850955|PMID:18523401|PMID:18568278|PMID:1856830|PMID:18603555|PMID:18619001|PMID:18654889|PMID:1873227|PMID:18759082|PMID:18976160|PMID:19000664|PMID:19034506|PMID:19061217|PMID:19092326|PMID:19103851|PMID:1917531|PMID:19205970|PMID:19254853|PMID:19372376|PMID:19429541|PMID:19440680|PMID:19460936|PMID:19465909|PMID:19486366|PMID:19500561|PMID:1960615|PMID:19631632|PMID:19657836|PMID:19657842|PMID:1967205|PMID:1971109|PMID:19727720|PMID:19750260|PMID:19758965|PMID:19841268|PMID:19843386|PMID:1985702|PMID:1986365|PMID:1986379|PMID:19958184|PMID:19958185|PMID:19960060|PMID:2001456|PMID:20035706|PMID:2004023|PMID:2005117|PMID:20110664|PMID:20113284|PMID:20132300|PMID:2014803|PMID:20181291|PMID:2018842|PMID:20233970|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20324533|PMID:20353354|PMID:20395516|PMID:20406103|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20524821|PMID:20628988|PMID:20704537|PMID:20737602|PMID:20788973|PMID:2079437|PMID:20854120|PMID:20854126|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21194265|PMID:21228398|PMID:2123063|PMID:21232998|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21353607|PMID:21389146|PMID:21417574|PMID:21423179|PMID:21509314|PMID:21529713|PMID:21599435|PMID:21704277|PMID:21732929|PMID:21797702 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:0080771 beta-thalassemia major ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E PMID:21797703|PMID:21879898|PMID:21931510|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:2207008|PMID:22074124|PMID:22075726|PMID:22089620|PMID:22110956|PMID:22122796|PMID:22145566|PMID:22180324|PMID:22188014|PMID:22200002|PMID:22244832|PMID:22260787|PMID:22271886|PMID:2232267|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:2265836|PMID:22690826|PMID:22737496|PMID:22738642|PMID:2283297|PMID:2283300|PMID:22851993|PMID:2291577|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:2298920|PMID:23001606|PMID:2306523|PMID:23065522|PMID:2307460|PMID:23094636|PMID:2310691|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23350016|PMID:23383304|PMID:23425204|PMID:23431002|PMID:23457306|PMID:2346726|PMID:23510507|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23651435|PMID:2366586|PMID:23729725|PMID:2375910|PMID:2375912|PMID:23806067|PMID:23915319|PMID:2393018|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24080465|PMID:24086942|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:2424301|PMID:24245819|PMID:24265529|PMID:2430648|PMID:2434529|PMID:24368026|PMID:24369358|PMID:24385794|PMID:2439149|PMID:24401016|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:2460127|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24719849|PMID:24744675|PMID:24754789|PMID:24777453|PMID:24814631|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25130136|PMID:25135424|PMID:25155404|PMID:25244406|PMID:25332589|PMID:25355712|PMID:25370867|PMID:2539344|PMID:25405919|PMID:25408857|PMID:25412720|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25525381|PMID:25572186|PMID:25572187|PMID:25617386|PMID:2563949|PMID:25666204|PMID:25669128|PMID:25677748|PMID:25741868|PMID:25754248|PMID:2577233|PMID:2579336|PMID:25818823|PMID:2582106|PMID:25825561|PMID:25849334|PMID:25856402|PMID:25910213|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26041423|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26076395|PMID:26076396|PMID:26079343|PMID:26084319|PMID:26097845|PMID:26182339|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:2634674|PMID:26351951|PMID:26366554|PMID:26372199|PMID:26372288|PMID:26418075|PMID:26436569|PMID:26467025|PMID:26524961|PMID:26554253|PMID:26554862|PMID:26594346|PMID:26635043|PMID:26661037|PMID:26715484|PMID:26771086|PMID:26850598|PMID:26877226|PMID:26897028|PMID:26901597|PMID:26948378|PMID:26956563|PMID:2703241|PMID:27032675|PMID:2703363|PMID:2703366|PMID:27117567|PMID:27117572|PMID:27132|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27258795|PMID:27263053|PMID:27264598|PMID:2736244|PMID:27408413|PMID:2741940|PMID:27427187|PMID:27535164|PMID:2753736|PMID:27690257|PMID:27718361|PMID:2775294|PMID:27756326|PMID:27765567|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829298|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28125089|PMID:2822177|PMID:28251416|PMID:28276871|PMID:28356267|PMID:28361595|PMID:28366028|PMID:2837728|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28503568|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:2875755|PMID:28802248|PMID:28865746|PMID:2887538|PMID:2888754|PMID:28904057|PMID:2891298|PMID:2893541|PMID:2895770|PMID:2897787|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29157184|PMID:2915972|PMID:2917193|PMID:2920213|PMID:29240028|PMID:29251008|PMID:29319890|PMID:29464999|PMID:29484903|PMID:29695942|PMID:29717566|PMID:2987224|PMID:2987809|PMID:29893155|PMID:30002798|PMID:3002527|PMID:30033078|PMID:3014870|PMID:30173596|PMID:3021139|PMID:3021607|PMID:30249157|PMID:3024968|PMID:30275481|PMID:30309760|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30604644|PMID:30626242|PMID:30843739|PMID:31096791|PMID:31106603|PMID:31130284|PMID:31134759|PMID:3114175|PMID:31145010|PMID:3115700|PMID:31164695|PMID:31240559|PMID:31268351|PMID:3130858 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:0080771 beta-thalassemia major ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E PMID:31395865|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:3170240|PMID:31714438|PMID:31718331|PMID:31890591|PMID:32039214|PMID:32069775|PMID:32126744|PMID:32190157|PMID:32420772|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3260032|PMID:3267215|PMID:32722952|PMID:32860008|PMID:32885601|PMID:33091040|PMID:33116287|PMID:33244864|PMID:33287582|PMID:33335418|PMID:3343245|PMID:33491330|PMID:3354556|PMID:3382401|PMID:33851260|PMID:3387213|PMID:33966551|PMID:33971252|PMID:3403716|PMID:34092029|PMID:3417300|PMID:3422218|PMID:34293487|PMID:34334128|PMID:34426522|PMID:34474730|PMID:3457470|PMID:3462712|PMID:34749363|PMID:35336809|PMID:3557993|PMID:3557998|PMID:36073655|PMID:36184|PMID:3623977|PMID:3671081|PMID:3683554|PMID:3690667|PMID:3752087|PMID:3754244|PMID:3758492|PMID:3799593|PMID:3821796|PMID:3828533|PMID:3840039|PMID:3859465|PMID:3866233|PMID:3942130|PMID:3955238|PMID:3957690|PMID:3957922|PMID:4018033|PMID:4078867|PMID:4086303|PMID:4086306|PMID:4129558|PMID:4232783|PMID:429843|PMID:4351905|PMID:4361439|PMID:4413625|PMID:4841979|PMID:49057|PMID:4991321|PMID:4994348|PMID:5050915|PMID:5129589|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5637049|PMID:5658717|PMID:5672850|PMID:5710451|PMID:5773089|PMID:5791015|PMID:5851873|PMID:5856115|PMID:5863839|PMID:5886928|PMID:5915974|PMID:5961314|PMID:5996551|PMID:6019668|PMID:6021187|PMID:6033745|PMID:6034218|PMID:6054484|PMID:6086605|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:622390|PMID:6246994|PMID:6248489|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6271242|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6280138|PMID:6285354|PMID:6292840|PMID:6298782|PMID:6304979|PMID:6308558|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6322284|PMID:6434492|PMID:6457059|PMID:6469698|PMID:6500990|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585381|PMID:6585831|PMID:6629828|PMID:6646217|PMID:6664996|PMID:6668188|PMID:6695908|PMID:6714226|PMID:6733281|PMID:6769116|PMID:6821648|PMID:6826539|PMID:6852251|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7104238|PMID:7137165|PMID:7151176|PMID:7173395|PMID:7177196|PMID:7190137|PMID:7204096|PMID:721609|PMID:721611|PMID:721614|PMID:7229029|PMID:7312624|PMID:7338475|PMID:7372598|PMID:7384810|PMID:7395858|PMID:7505125|PMID:750553|PMID:7507641|PMID:7522523|PMID:7558878|PMID:7599641|PMID:7655036|PMID:7663000|PMID:7668219|PMID:7668221|PMID:7683931|PMID:7713749|PMID:7755625|PMID:7794779|PMID:7795641|PMID:7819068|PMID:7852087|PMID:7907594|PMID:7908281|PMID:7909640|PMID:7929232|PMID:7993409|PMID:808079|PMID:8091935|PMID:8095930|PMID:8112743|PMID:8144357|PMID:8161774|PMID:8172199|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8226093|PMID:826073|PMID:8262525|PMID:8318995|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8438884|PMID:8454469|PMID:8462981|PMID:8477263|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8811316|PMID:8839873|PMID:88735|PMID:8874232|PMID:8917506|PMID:891976|PMID:893136|PMID:893139|PMID:8978308|PMID:8980256|PMID:8990020|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140717|PMID:9140720|PMID:9160698|PMID:9163585|PMID:9163586|PMID:9223924|PMID:9225979|PMID:9234571|PMID:932531|PMID:9340427|PMID:9342003|PMID:9401495|PMID:9427726|PMID:9450794|PMID:9490703|PMID:9495372|PMID:9536098|PMID:9556665|PMID:9560205|PMID:9586437|PMID:9653159|PMID:974261|PMID:9830011|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9875660|PMID:993333|PMID:9949622 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:0080772 beta-thalassemia intermedia ISO RGD:736606 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Beta thalassemia intermedia | ClinVar Annotator: match by term: Thalassemia intermedia PMID:10606872|PMID:10870887|PMID:11300352|PMID:11532628|PMID:11809258|PMID:11857738|PMID:11857746|PMID:12139763|PMID:12144056|PMID:12324499|PMID:12368169|PMID:12709369|PMID:12779270|PMID:1301199|PMID:1428943|PMID:14555318|PMID:1463768|PMID:15658193|PMID:1586746|PMID:1634236|PMID:16732578|PMID:17007829|PMID:17145605|PMID:17365006|PMID:17486493|PMID:17576681|PMID:17606453|PMID:1777603|PMID:17994378|PMID:18076350|PMID:1814858|PMID:18294253|PMID:18339318|PMID:18603555|PMID:18759082|PMID:19103851|PMID:1917531|PMID:19254853|PMID:19437135|PMID:19460936|PMID:1954392|PMID:20301599|PMID:20437613|PMID:20704537|PMID:21119755|PMID:21228398|PMID:21845419|PMID:2200760|PMID:22089620|PMID:22392582|PMID:22734587|PMID:22975760|PMID:23094636|PMID:2310691|PMID:23525874|PMID:23590658|PMID:2375912|PMID:23915319|PMID:2399911|PMID:24450243|PMID:2446680|PMID:2458145|PMID:24719849|PMID:24828949|PMID:25087612|PMID:25155404|PMID:25370867|PMID:25480500|PMID:25617386|PMID:25677748|PMID:25741868|PMID:25825561|PMID:25910213|PMID:26029792|PMID:26041423|PMID:2634667|PMID:2634674|PMID:26467025|PMID:26594346|PMID:26901597|PMID:27263053|PMID:27635400|PMID:27756326|PMID:27828729|PMID:28125089|PMID:28276871|PMID:2837728|PMID:28385923|PMID:28492532|PMID:28503568|PMID:28670940|PMID:2917193|PMID:2920213|PMID:29893155|PMID:3002527|PMID:30309760|PMID:31240559|PMID:31395865|PMID:31589614|PMID:31718331|PMID:32069775|PMID:32885601|PMID:33851260|PMID:3446652|PMID:3457470|PMID:6188062|PMID:6280057|PMID:7507641|PMID:7530406|PMID:7599641|PMID:7632967|PMID:7655036|PMID:7794779|PMID:8037185|PMID:8111050|PMID:8199027|PMID:8435318|PMID:8438884|PMID:8477263|PMID:8874232|PMID:8980256|PMID:9028819|PMID:9101288|PMID:9140720|PMID:9450794|PMID:9536098|PMID:9792288 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:0080773 delta beta-thalassemia ISO RGD:736606 D RGD:7240710 20180130 OMIM 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:0080773 delta beta-thalassemia ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Delta-beta-thalassemia | ClinVar Annotator: match by term: Fetal hemoglobin quantitative trait locus 1 | ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin | ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:10203101|PMID:10335989|PMID:10583251|PMID:10602954|PMID:10612821|PMID:10815781|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11300348|PMID:11425418|PMID:11545326|PMID:11559932|PMID:11713529|PMID:11741197|PMID:1177278|PMID:11830454|PMID:11857746|PMID:1186896|PMID:11880644|PMID:11939508|PMID:11939510|PMID:12000828|PMID:12124399|PMID:12144056|PMID:12144057|PMID:12149194|PMID:12324499|PMID:12383672|PMID:12403491|PMID:1244906|PMID:12702481|PMID:12709369|PMID:12764548|PMID:12818227|PMID:12827652|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1353069|PMID:13590135|PMID:13618691|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:13872094|PMID:1390250|PMID:14084634|PMID:14160125|PMID:1427786|PMID:1428944|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:15181845|PMID:15278762|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634368|PMID:16370495|PMID:16421096|PMID:16470532|PMID:16540414|PMID:16750922|PMID:1680789|PMID:16821247|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:17486505|PMID:17576681|PMID:1769663|PMID:17774955|PMID:17932132|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18192399|PMID:18294253|PMID:18568278|PMID:18603555|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1917531|PMID:19254853|PMID:19429541|PMID:19440680|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19657842|PMID:1967205|PMID:19727720|PMID:19758965|PMID:19841268|PMID:1986365|PMID:1986379|PMID:19958184|PMID:19958185|PMID:19960060|PMID:2004023|PMID:20110664|PMID:20113284|PMID:20132300|PMID:20181291|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20628988|PMID:20704537|PMID:20737602|PMID:20788973|PMID:2079437|PMID:20854120|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21194265|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21509314|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22110956|PMID:22188014|PMID:22200002|PMID:22244832|PMID:22260787|PMID:22271886|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:22737496|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:23065522|PMID:2307460|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23425204|PMID:23431002|PMID:23457306|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23729725|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24368026|PMID:24369358|PMID:24401016|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24814631|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25155404|PMID:25332589|PMID:25370867|PMID:25408857|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25572186|PMID:25617386|PMID:25666204|PMID:25741868|PMID:2577233|PMID:2579336|PMID:25818823|PMID:2582106|PMID:25849334|PMID:25856402|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26554253|PMID:26554862|PMID:26661037|PMID:26897028|PMID:26956563|PMID:27032675|PMID:27117572|PMID:2713503 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:0080773 delta beta-thalassemia ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Delta-beta-thalassemia | ClinVar Annotator: match by term: Fetal hemoglobin quantitative trait locus 1 | ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin | ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:27690257|PMID:27821015|PMID:27823958|PMID:27829304|PMID:27884173|PMID:27979672|PMID:2798417|PMID:28251416|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:28802248|PMID:28865746|PMID:2887538|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2895770|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29240028|PMID:29319890|PMID:29484903|PMID:29695942|PMID:2987224|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30249157|PMID:30275481|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30604644|PMID:30626242|PMID:30843739|PMID:31096791|PMID:31130284|PMID:31134759|PMID:31268351|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31890591|PMID:32039214|PMID:32126744|PMID:32190157|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3267215|PMID:32860008|PMID:33091040|PMID:33116287|PMID:33335418|PMID:3354556|PMID:33851260|PMID:34092029|PMID:3422218|PMID:34334128|PMID:34426522|PMID:3462712|PMID:34749363|PMID:3557993|PMID:3557998|PMID:36073655|PMID:3623977|PMID:3690667|PMID:3691763|PMID:3752087|PMID:3821796|PMID:3840039|PMID:3859465|PMID:3957690|PMID:4078867|PMID:4232783|PMID:4351905|PMID:4683875|PMID:49057|PMID:4991321|PMID:5050915|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5658717|PMID:5672850|PMID:5863839|PMID:5915974|PMID:6019668|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6246994|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6304979|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6322284|PMID:6434492|PMID:6457059|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585831|PMID:6695908|PMID:6714226|PMID:6745619|PMID:6821648|PMID:6826539|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7137165|PMID:7151176|PMID:7177196|PMID:7229029|PMID:7312624|PMID:7338475|PMID:7384810|PMID:7395858|PMID:750553|PMID:7522523|PMID:7558878|PMID:7668219|PMID:7908281|PMID:7993409|PMID:8091935|PMID:8095930|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8262525|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8839873|PMID:88735|PMID:8917506|PMID:893136|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140717|PMID:9140720|PMID:9163586|PMID:9225979|PMID:9342003|PMID:9401495|PMID:9450794|PMID:9490703|PMID:9536098|PMID:9556665|PMID:9586437|PMID:9653159|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9949622 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:0111363 Heinz body anemia ISO RGD:736606 D RGD:7240710 20180130 OMIM 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:0111363 Heinz body anemia ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Heinz body anemia | ClinVar Annotator: match by term: Heinz body hemolytic anemia PMID:10203101|PMID:10335989|PMID:10583251|PMID:10602954|PMID:10612821|PMID:10815781|PMID:10975446|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11425418|PMID:11545326|PMID:11559932|PMID:1164567|PMID:11713529|PMID:1173714|PMID:11741197|PMID:1177278|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939506|PMID:11939508|PMID:11939510|PMID:12000828|PMID:12124399|PMID:12144057|PMID:12149194|PMID:12383672|PMID:12403491|PMID:1244906|PMID:12702481|PMID:12709369|PMID:12764548|PMID:12818227|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1353069|PMID:13590135|PMID:13618691|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:13872094|PMID:1390250|PMID:14084634|PMID:14160125|PMID:14198723|PMID:1427786|PMID:1428944|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:15181845|PMID:15278762|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634368|PMID:16370495|PMID:16421096|PMID:16470532|PMID:16540414|PMID:16750922|PMID:1680789|PMID:16821247|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:17486505|PMID:17576681|PMID:1769663|PMID:17774955|PMID:17932132|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18081706|PMID:18192399|PMID:18294253|PMID:18568278|PMID:18603555|PMID:186485|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1917531|PMID:19254853|PMID:19372376|PMID:19429541|PMID:19440680|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19657842|PMID:1967205|PMID:19727720|PMID:19758965|PMID:19841268|PMID:1986365|PMID:1986379|PMID:19958184|PMID:19958185|PMID:19960060|PMID:2004023|PMID:2005117|PMID:20110664|PMID:20132300|PMID:2014803|PMID:20181291|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20309827|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20628988|PMID:20704537|PMID:20737602|PMID:20788973|PMID:2079437|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21194265|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21509314|PMID:21523319|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22110956|PMID:22188014|PMID:22200002|PMID:22244832|PMID:22260787|PMID:22271886|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:23065522|PMID:2307460|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23425204|PMID:23457306|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23729725|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24368026|PMID:24369358|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:2460127|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24814631|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25130136|PMID:25135424|PMID:25155404|PMID:25332589|PMID:25370867|PMID:25408857|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25572186|PMID:25617386|PMID:25666204|PMID:25741868|PMID:2577233|PMID:2579336|PMID:25818823|PMID:2582106|PMID:25849334|PMID:25856402|PMID:25976460|PMID:2599881|PMID:26029792|PMID:26041415|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26079343|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26554253|PMID:26554862 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:0111363 Heinz body anemia ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Heinz body anemia | ClinVar Annotator: match by term: Heinz body hemolytic anemia PMID:26661037|PMID:26897028|PMID:26956563|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:2752127|PMID:27690257|PMID:27821015|PMID:27823958|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28251416|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:2875755|PMID:28802248|PMID:28865746|PMID:2887538|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2895770|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29319890|PMID:29484903|PMID:29695942|PMID:2987224|PMID:2987809|PMID:30002798|PMID:30033078|PMID:3021607|PMID:30249157|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30604644|PMID:30626242|PMID:30843739|PMID:31096791|PMID:31130284|PMID:31134759|PMID:31268351|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31890591|PMID:32039214|PMID:32126744|PMID:32190157|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3260032|PMID:3267215|PMID:32860008|PMID:33091040|PMID:33116287|PMID:3354556|PMID:33851260|PMID:34092029|PMID:3422218|PMID:34334128|PMID:34426522|PMID:3457470|PMID:3462712|PMID:34749363|PMID:3557993|PMID:3557998|PMID:3557999|PMID:36073655|PMID:3623977|PMID:3690667|PMID:3691763|PMID:3752087|PMID:3768534|PMID:3781865|PMID:3799593|PMID:3821796|PMID:3840039|PMID:3859465|PMID:3937827|PMID:3957690|PMID:4078867|PMID:4232783|PMID:4281476|PMID:4351905|PMID:4407364|PMID:4514958|PMID:4525423|PMID:4683875|PMID:4808645|PMID:49057|PMID:4942314|PMID:4991321|PMID:5050915|PMID:5059650|PMID:5079107|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5658717|PMID:5672850|PMID:5698750|PMID:5785231|PMID:5856115|PMID:5863839|PMID:5869485|PMID:5881530|PMID:5915974|PMID:6019668|PMID:6029950|PMID:6050213|PMID:6067323|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6246994|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6304979|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6322284|PMID:6434492|PMID:6457059|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585831|PMID:6695908|PMID:6714226|PMID:6745619|PMID:6821648|PMID:6826539|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:711920|PMID:7137165|PMID:7151176|PMID:7177196|PMID:721609|PMID:7229029|PMID:7312624|PMID:7338475|PMID:7357091|PMID:7384810|PMID:7395858|PMID:750553|PMID:7522523|PMID:7558878|PMID:7668219|PMID:7860732|PMID:7864023|PMID:7908281|PMID:7993409|PMID:8095930|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8226093|PMID:8262525|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8824225|PMID:8839873|PMID:88735|PMID:8917506|PMID:893136|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140717|PMID:9140720|PMID:9163586|PMID:9225979|PMID:9342003|PMID:9401495|PMID:9450794|PMID:9490703|PMID:9536098|PMID:9556665|PMID:9586437|PMID:9653159|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9949622 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:0111632 familial erythrocytosis 6 ISO RGD:736606 D RGD:7240710 20190315 OMIM 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:0111632 familial erythrocytosis 6 ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Erythrocytosis, familial, 6 | ClinVar Annotator: match by term: POLYCYTHEMIA, BETA-GLOBIN TYPE PMID:10203101|PMID:10335979|PMID:10335989|PMID:1052179|PMID:1052180|PMID:10583251|PMID:10602954|PMID:10612821|PMID:10722117|PMID:10815781|PMID:10846826|PMID:11001883|PMID:1112610|PMID:1117598|PMID:11179419|PMID:11186258|PMID:11425418|PMID:11545326|PMID:11559932|PMID:1164510|PMID:1164511|PMID:11713529|PMID:11741197|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939509|PMID:11939510|PMID:11946541|PMID:12000828|PMID:12124399|PMID:12144057|PMID:12149194|PMID:12383672|PMID:124|PMID:1246355|PMID:1249207|PMID:12702481|PMID:12764548|PMID:12818227|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1353069|PMID:13618691|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:1390250|PMID:14081243|PMID:14084634|PMID:14117783|PMID:1427786|PMID:1428944|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:15181845|PMID:15278762|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634368|PMID:16421096|PMID:16470532|PMID:16750922|PMID:1680789|PMID:16821247|PMID:16987804|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:17486505|PMID:17576681|PMID:1769663|PMID:17774955|PMID:17795074|PMID:17932132|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18192399|PMID:18294253|PMID:18568278|PMID:18603555|PMID:18793248|PMID:18818920|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1917531|PMID:19254853|PMID:19429541|PMID:19440680|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19657842|PMID:1967205|PMID:19727720|PMID:19758965|PMID:19841268|PMID:1986365|PMID:1986379|PMID:19958185|PMID:19960060|PMID:2004023|PMID:20132300|PMID:20181291|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20628988|PMID:20704537|PMID:20737602|PMID:20788973|PMID:20861612|PMID:20942|PMID:20954261|PMID:20981092|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21509314|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22110956|PMID:22188014|PMID:22200002|PMID:22244832|PMID:22260787|PMID:22271886|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23425204|PMID:23457306|PMID:234980|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23729725|PMID:23859443|PMID:2393712|PMID:239863|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24368026|PMID:24369358|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25155404|PMID:25332589|PMID:25370867|PMID:25408857|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25572186|PMID:25617386|PMID:25666204|PMID:25741868|PMID:2577233|PMID:2579336|PMID:2582106|PMID:25849334|PMID:25856402|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26554253|PMID:26554862|PMID:26635043|PMID:26661037|PMID:26897028|PMID:26956563|PMID:2703368|PMID:27117572|PMID:27132|PMID:2713503|PMID:27199182|PMID:27207683 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:0111632 familial erythrocytosis 6 ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Erythrocytosis, familial, 6 | ClinVar Annotator: match by term: POLYCYTHEMIA, BETA-GLOBIN TYPE PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:27651169|PMID:27690257|PMID:27821015|PMID:27823958|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28251416|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:28685465|PMID:28802248|PMID:28865746|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29054|PMID:29319890|PMID:29484903|PMID:29695942|PMID:29790589|PMID:2987224|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30249157|PMID:3031297|PMID:30315176|PMID:30423154|PMID:3048433|PMID:30604644|PMID:30843739|PMID:31096791|PMID:31130284|PMID:31132167|PMID:31134759|PMID:3114176|PMID:31268351|PMID:31304856|PMID:31388287|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31890591|PMID:32039214|PMID:3207692|PMID:32126744|PMID:32190157|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3267215|PMID:32860008|PMID:33091040|PMID:33116287|PMID:3348204|PMID:3354556|PMID:33851260|PMID:34092029|PMID:3422218|PMID:34334128|PMID:34426522|PMID:3462712|PMID:34749363|PMID:36073655|PMID:3623972|PMID:3623977|PMID:3690667|PMID:3691763|PMID:3752087|PMID:3793825|PMID:3821796|PMID:3839762|PMID:3840039|PMID:3859465|PMID:3930571|PMID:3935609|PMID:3957690|PMID:3957694|PMID:4232783|PMID:4338724|PMID:4342316|PMID:4351905|PMID:4413656|PMID:4514629|PMID:4639015|PMID:4683875|PMID:4719677|PMID:4742453|PMID:478981|PMID:4808644|PMID:49057|PMID:5011106|PMID:5026295|PMID:5073564|PMID:5080413|PMID:5128393|PMID:5280664|PMID:5282843|PMID:5347519|PMID:5481775|PMID:5492847|PMID:5609824|PMID:5619995|PMID:563749|PMID:5651043|PMID:5658717|PMID:5687529|PMID:5773089|PMID:5775133|PMID:5796352|PMID:5863839|PMID:5915974|PMID:6019668|PMID:6061751|PMID:6061752|PMID:6067323|PMID:6162860|PMID:6166590|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6246994|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6304979|PMID:6310991|PMID:6316272|PMID:6320218|PMID:639985|PMID:6434492|PMID:6457059|PMID:6500987|PMID:6546989|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585831|PMID:6589624|PMID:6629830|PMID:6695908|PMID:6714226|PMID:6745619|PMID:678476|PMID:6821648|PMID:6826539|PMID:6859036|PMID:6874372|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7097767|PMID:7137165|PMID:7151176|PMID:7158624|PMID:7161106|PMID:7177196|PMID:7204092|PMID:7204093|PMID:7229029|PMID:7295777|PMID:7312624|PMID:7384810|PMID:7395858|PMID:7417488|PMID:747183|PMID:750556|PMID:7522523|PMID:7558878|PMID:7615400|PMID:7668219|PMID:7908281|PMID:7993409|PMID:8095930|PMID:8144354|PMID:8168595|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:826083|PMID:8262525|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8701949|PMID:8718703|PMID:8839873|PMID:88735|PMID:8917506|PMID:893136|PMID:8954892|PMID:9028827|PMID:903694|PMID:9048934|PMID:909565|PMID:9101280|PMID:9101288|PMID:9113933|PMID:9140720|PMID:9163586|PMID:9225979|PMID:9342003|PMID:9401495|PMID:9450794|PMID:949044|PMID:9490703|PMID:9536098|PMID:9556665|PMID:9586437|PMID:9653159|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9949622 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:10241 thalassemia ISO RGD:736606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN J (BALTIMORE) | ClinVar Annotator: match by term: Hemoglobin Lepore trait PMID:1347969|PMID:13703277|PMID:13843994|PMID:13892631|PMID:14092068|PMID:14117783|PMID:14133899|PMID:14194270|PMID:14282052|PMID:14449876|PMID:14478740|PMID:16114186|PMID:16178917|PMID:1693293|PMID:17709689|PMID:19429541|PMID:19750260|PMID:20206586|PMID:24200101|PMID:2442092|PMID:25130136|PMID:25741868|PMID:26467025|PMID:26901597|PMID:27207683|PMID:27535164|PMID:28791912|PMID:31553106|PMID:3957922|PMID:4625560|PMID:511585|PMID:5125343|PMID:5356627|PMID:5481775|PMID:5660684|PMID:5872025|PMID:5964983|PMID:6026391|PMID:6859036|PMID:700140|PMID:701081|PMID:857849|PMID:8745435 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:10780 primary polycythemia ISO RGD:736606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN JOHNSTOWN | ClinVar Annotator: match by term: HEMOGLOBIN NEW MEXICO PMID:11074558|PMID:15658189|PMID:17952198|PMID:19257|PMID:22563907|PMID:2272838|PMID:26467025 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:10783 methemoglobinemia ISO RGD:736606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15929117 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:10923 sickle cell anemia ISO RGD:736606 D RGD:7240710 20180130 OMIM 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:10923 sickle cell anemia ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN KORLE-BU | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Hemoglobin S Disease | ClinVar Annotator: match by term: Sickle cell disease | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S PMID:10203101|PMID:10335989|PMID:10367791|PMID:10520021|PMID:10583251|PMID:10602954|PMID:10612821|PMID:10815781|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11196276|PMID:11300348|PMID:11425418|PMID:1148394|PMID:11545326|PMID:11559932|PMID:11713529|PMID:11734002|PMID:11741197|PMID:1177278|PMID:11791878|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939510|PMID:11943067|PMID:12000828|PMID:12124399|PMID:12144056|PMID:12144057|PMID:12144064|PMID:12149194|PMID:12172041|PMID:12210807|PMID:12324499|PMID:12383672|PMID:12403491|PMID:1244906|PMID:12488606|PMID:12702481|PMID:12709369|PMID:12764548|PMID:12818227|PMID:12827652|PMID:12850492|PMID:12955718|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1353069|PMID:13590135|PMID:13618691|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:13872094|PMID:1390250|PMID:14084634|PMID:14160125|PMID:14197371|PMID:1427786|PMID:14282052|PMID:1428944|PMID:1428947|PMID:14370233|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14715623|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:1517108|PMID:1517111|PMID:15181845|PMID:15257926|PMID:15278762|PMID:15333505|PMID:15395398|PMID:15470211|PMID:15470216|PMID:15481886|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15697092|PMID:15727901|PMID:15761692|PMID:15768552|PMID:1581247|PMID:1586746|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634366|PMID:1634368|PMID:16370487|PMID:16370495|PMID:16421096|PMID:16470532|PMID:16540414|PMID:16540415|PMID:16750922|PMID:1680789|PMID:16821247|PMID:17008283|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:1740317|PMID:17486493|PMID:17486498|PMID:17486505|PMID:17565724|PMID:17576681|PMID:17655700|PMID:17655708|PMID:1769663|PMID:17774955|PMID:1787101|PMID:17932132|PMID:17949282|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18056002|PMID:18081706|PMID:18192399|PMID:18266208|PMID:18294253|PMID:18495504|PMID:1850955|PMID:18568278|PMID:18603555|PMID:1873227|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1917531|PMID:19254853|PMID:19429541|PMID:19440680|PMID:19460936|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19631632|PMID:19657842|PMID:1967205|PMID:1971109|PMID:19727720|PMID:19758965|PMID:19783722|PMID:19841268|PMID:19843386|PMID:1986365|PMID:1986379|PMID:19958184|PMID:19958185|PMID:19958198|PMID:19960060|PMID:20035706|PMID:2004023|PMID:2005117|PMID:20090224|PMID:20110664|PMID:20113284|PMID:20132300|PMID:2014803|PMID:20181291|PMID:2018842|PMID:20233970|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20309827|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20524821|PMID:20628988|PMID:20704537|PMID:20737602|PMID:20788973|PMID:2079437|PMID:20838957|PMID:20854120|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21194265|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21423179|PMID:21509314|PMID:21529713|PMID:21599435|PMID:21732929|PMID:21733559|PMID:21797702|PMID:21797703|PMID:21931510|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:2207008|PMID:22075726|PMID:22110956|PMID:22145566|PMID:22188014|PMID:22200002|PMID:22244832|PMID:22260787|PMID:22271886|PMID:2232267|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:22690826|PMID:22737496|PMID:22851993|PMID:2291577|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:2298920|PMID:22995479|PMID:2306523|PMID:23065522|PMID:2307460|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23350016|PMID:23383304|PMID:23425204|PMID:23431002|PMID:23457306|PMID:23543793|PMID:23590658|PMID:23591685 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:10923 sickle cell anemia ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN KORLE-BU | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Hemoglobin S Disease | ClinVar Annotator: match by term: Sickle cell disease | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S PMID:23637309|PMID:23651435|PMID:23729725|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24080465|PMID:24086942|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24265529|PMID:2430648|PMID:2434529|PMID:24368026|PMID:24369358|PMID:24401016|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24814631|PMID:24857915|PMID:24880717|PMID:24957539|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25130136|PMID:25135424|PMID:25155404|PMID:25244406|PMID:25332589|PMID:25332633|PMID:25370867|PMID:2539344|PMID:25405919|PMID:25408857|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25525381|PMID:25572186|PMID:25617386|PMID:2563949|PMID:25666204|PMID:25677748|PMID:25741868|PMID:25754248|PMID:2577233|PMID:2579336|PMID:25818823|PMID:2582106|PMID:25849334|PMID:25856402|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26041423|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26076395|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26351951|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26524961|PMID:26544676|PMID:26554253|PMID:26554862|PMID:26594346|PMID:26635043|PMID:26661037|PMID:26715484|PMID:26771086|PMID:26877226|PMID:26897028|PMID:26901597|PMID:26956563|PMID:27032675|PMID:2703363|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:27521855|PMID:27521862|PMID:2753736|PMID:27670359|PMID:27690257|PMID:27718361|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829298|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28125089|PMID:2822177|PMID:28251416|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:28698850|PMID:2875755|PMID:28802248|PMID:28865746|PMID:2887538|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2895770|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29157184|PMID:2915972|PMID:29240028|PMID:2930724|PMID:29319890|PMID:29464999|PMID:29484903|PMID:29519374|PMID:29695942|PMID:2987224|PMID:2987809|PMID:30002798|PMID:30033078|PMID:3014870|PMID:30249157|PMID:30275481|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30604644|PMID:30626242|PMID:30843739|PMID:31096791|PMID:31106603|PMID:31130284|PMID:31134759|PMID:3114175|PMID:31164695|PMID:31240559|PMID:31268351|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31890591|PMID:32039214|PMID:32126744|PMID:32190157|PMID:32411010|PMID:32420772|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3267215|PMID:32860008|PMID:33091040|PMID:33116287|PMID:33244864|PMID:33279152|PMID:33287582|PMID:33335418|PMID:33489049|PMID:3354556|PMID:33851260|PMID:3403716|PMID:34092029|PMID:3417300|PMID:3422218|PMID:34293487|PMID:34334128|PMID:34426522|PMID:34474730|PMID:3462712|PMID:34749363|PMID:35287566|PMID:3557993|PMID:3557994|PMID:3557998|PMID:36073655|PMID:3623977|PMID:3683554|PMID:3690667|PMID:3691763|PMID:3752087|PMID:3821796|PMID:3828533|PMID:3840039|PMID:3859465|PMID:3942130|PMID:3955238|PMID:3957690|PMID:4018033|PMID:4078867|PMID:4129558|PMID:4232783|PMID:429843|PMID:4351905|PMID:4361439|PMID:4683875|PMID:4715135|PMID:4725603|PMID:49057|PMID:4991321|PMID:5050915|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5658717|PMID:5672850|PMID:5722880|PMID:5863839|PMID:5915974|PMID:6016610|PMID:6019668|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6246994|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6292840|PMID:6304979|PMID:6308558|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6322284|PMID:6434492|PMID:6457059|PMID:6469698|PMID:6500990|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585381|PMID:6585831|PMID:6664996|PMID:6668188|PMID:6671904|PMID:6695908|PMID:6714226|PMID:6733281 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:10923 sickle cell anemia ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN KORLE-BU | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Hemoglobin S Disease | ClinVar Annotator: match by term: Sickle cell disease | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S PMID:6745619|PMID:6821648|PMID:6826539|PMID:6852251|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7073867|PMID:7076659|PMID:7104238|PMID:7137165|PMID:7151176|PMID:7173395|PMID:7177196|PMID:721614|PMID:7229029|PMID:7312624|PMID:7338475|PMID:7384810|PMID:7395858|PMID:7505125|PMID:750553|PMID:7522523|PMID:7558878|PMID:7668219|PMID:7668221|PMID:7691242|PMID:7795641|PMID:7819068|PMID:7852087|PMID:7908281|PMID:7993409|PMID:808079|PMID:8091935|PMID:8095930|PMID:8144357|PMID:8161774|PMID:81926|PMID:8195010|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8262525|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8494004|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8839873|PMID:88735|PMID:8917506|PMID:893136|PMID:8978308|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140717|PMID:9140720|PMID:9160698|PMID:9163586|PMID:9223924|PMID:9225979|PMID:9234571|PMID:932531|PMID:9340427|PMID:9342003|PMID:9401495|PMID:9450794|PMID:9490703|PMID:9495372|PMID:9536098|PMID:9556665|PMID:9586437|PMID:9653159|PMID:974261|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9875660|PMID:9949622 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:1099 alpha thalassemia ISO RGD:736606 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU | ClinVar Annotator: match by term: alpha Thalassemia PMID:10203101|PMID:10335989|PMID:10583251|PMID:10602954|PMID:10612821|PMID:10815781|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11425418|PMID:11545326|PMID:11559932|PMID:11713529|PMID:11741197|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939510|PMID:12000828|PMID:12124399|PMID:12144057|PMID:12149194|PMID:12383672|PMID:12702481|PMID:12764548|PMID:12818227|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1347969|PMID:1353069|PMID:13618691|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:13892631|PMID:1390250|PMID:14084634|PMID:14133899|PMID:1427786|PMID:1428944|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:15181845|PMID:15278762|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634368|PMID:16421096|PMID:16470532|PMID:16750922|PMID:1680789|PMID:16821247|PMID:1693293|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:17486505|PMID:17576681|PMID:1769663|PMID:17774955|PMID:17932132|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18192399|PMID:18294253|PMID:18568278|PMID:18603555|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1917531|PMID:19254853|PMID:19429541|PMID:19440680|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19657842|PMID:1967205|PMID:19727720|PMID:19758965|PMID:19841268|PMID:1986365|PMID:1986379|PMID:19958185|PMID:19960060|PMID:2004023|PMID:20132300|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20642331|PMID:20704537|PMID:20737602|PMID:20788973|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21509314|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22110956|PMID:22188014|PMID:22200002|PMID:22244832|PMID:22260787|PMID:22271886|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23425204|PMID:23457306|PMID:23590658|PMID:23637309|PMID:23647352|PMID:23729725|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24368026|PMID:24369358|PMID:2442092|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25155404|PMID:25332589|PMID:25370867|PMID:25408857|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25572186|PMID:25617386|PMID:25666204|PMID:25741868|PMID:2577233|PMID:2579336|PMID:2582106|PMID:25849334|PMID:25856402|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26554253|PMID:26554862|PMID:26661037|PMID:26897028|PMID:26956563|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:27690257|PMID:27821015|PMID:27823958|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28251416|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:1099 alpha thalassemia ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU | ClinVar Annotator: match by term: alpha Thalassemia PMID:10203101|PMID:10335989|PMID:10583251|PMID:10602954|PMID:10612821|PMID:10815781|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11425418|PMID:11545326|PMID:11559932|PMID:11713529|PMID:11741197|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939510|PMID:12000828|PMID:12124399|PMID:12144057|PMID:12149194|PMID:12383672|PMID:12702481|PMID:12764548|PMID:12818227|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1347969|PMID:1353069|PMID:13618691|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:13892631|PMID:1390250|PMID:14084634|PMID:14133899|PMID:1427786|PMID:1428944|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:15181845|PMID:15278762|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634368|PMID:16421096|PMID:16470532|PMID:16750922|PMID:1680789|PMID:16821247|PMID:1693293|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:17486505|PMID:17576681|PMID:1769663|PMID:17774955|PMID:17932132|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18192399|PMID:18294253|PMID:18568278|PMID:18603555|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1917531|PMID:19254853|PMID:19429541|PMID:19440680|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19657842|PMID:1967205|PMID:19727720|PMID:19758965|PMID:19841268|PMID:1986365|PMID:1986379|PMID:19958185|PMID:19960060|PMID:2004023|PMID:20132300|PMID:20181291|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20628988|PMID:20704537|PMID:20737602|PMID:20788973|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21509314|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22110956|PMID:22188014|PMID:22200002|PMID:22244832|PMID:22260787|PMID:22271886|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23425204|PMID:23457306|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23729725|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24368026|PMID:24369358|PMID:2442092|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25155404|PMID:25332589|PMID:25370867|PMID:25408857|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25572186|PMID:25617386|PMID:25666204|PMID:25741868|PMID:2577233|PMID:2579336|PMID:2582106|PMID:25849334|PMID:25856402|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26554253|PMID:26554862|PMID:26661037|PMID:26897028|PMID:26956563|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:27690257|PMID:27821015|PMID:27823958|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28251416|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:1099 alpha thalassemia ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU | ClinVar Annotator: match by term: alpha Thalassemia PMID:2867271|PMID:28802248|PMID:28865746|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29319890|PMID:29484903|PMID:29695942|PMID:2987224|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30249157|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30604644|PMID:30843739|PMID:31096791|PMID:31130284|PMID:31134759|PMID:31268351|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31890591|PMID:32039214|PMID:32126744|PMID:32190157|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3267215|PMID:32860008|PMID:33091040|PMID:33116287|PMID:3354556|PMID:33851260|PMID:34092029|PMID:3422218|PMID:34334128|PMID:34426522|PMID:3462712|PMID:34749363|PMID:36073655|PMID:3623977|PMID:3690667|PMID:3691763|PMID:3752087|PMID:3821796|PMID:3840039|PMID:3859465|PMID:3957690|PMID:4232783|PMID:4351905|PMID:4625560|PMID:4683875|PMID:49057|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5658717|PMID:5660684|PMID:5863839|PMID:5915974|PMID:5964983|PMID:6019668|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6246994|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6304979|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6434492|PMID:6457059|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585831|PMID:6695908|PMID:6714226|PMID:6745619|PMID:6821648|PMID:6826539|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7137165|PMID:7151176|PMID:7177196|PMID:7229029|PMID:7312624|PMID:7384810|PMID:7395858|PMID:7522523|PMID:7558878|PMID:7668219|PMID:7908281|PMID:7993409|PMID:8095930|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8262525|PMID:8280608|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8839873|PMID:88735|PMID:8917506|PMID:893136|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140720|PMID:9163586|PMID:9225979|PMID:9342003|PMID:9401495|PMID:9450794|PMID:9490703|PMID:9536098|PMID:9556665|PMID:9586437|PMID:9653159|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9949622 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:12241 beta thalassemia ISO RGD:736606 D RGD:7240710 20180130 OMIM 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:12241 beta thalassemia ISO RGD:736606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia PMID:10081986|PMID:10203101|PMID:10233364|PMID:10335988|PMID:10335989|PMID:10367791|PMID:10520021|PMID:1052173|PMID:1052174|PMID:10569722|PMID:10569730|PMID:10583251|PMID:10602954|PMID:10606872|PMID:10612821|PMID:10706767|PMID:10756381|PMID:10776695|PMID:10815781|PMID:10840054|PMID:10861818|PMID:10870880|PMID:10870887|PMID:10975446|PMID:10997336|PMID:11001883|PMID:11074564|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11186262|PMID:11186264|PMID:11279660|PMID:11300343|PMID:11300348|PMID:11300351|PMID:11300352|PMID:11300355|PMID:11425418|PMID:11480785|PMID:1148394|PMID:11523095|PMID:11532628|PMID:11545326|PMID:11559932|PMID:11570721|PMID:1163074|PMID:1164567|PMID:11713529|PMID:11722417|PMID:11734002|PMID:1173714|PMID:11741197|PMID:11757720|PMID:1177278|PMID:11791873|PMID:11791874|PMID:11791878|PMID:11830454|PMID:11857738|PMID:11857746|PMID:11880644|PMID:11939506|PMID:11939508|PMID:11939510|PMID:11939511|PMID:11939518|PMID:11939519|PMID:11943067|PMID:12000828|PMID:12124399|PMID:12139763|PMID:12144055|PMID:12144056|PMID:12144057|PMID:12144059|PMID:12144064|PMID:12144066|PMID:12149194|PMID:12172041|PMID:12189174|PMID:12210807|PMID:12324499|PMID:12353305|PMID:12368169|PMID:12383672|PMID:12403488|PMID:12403491|PMID:12403498|PMID:12430907|PMID:1244906|PMID:12488606|PMID:12508270|PMID:12702481|PMID:12709369|PMID:1272328|PMID:12752111|PMID:12764548|PMID:12779270|PMID:12779277|PMID:12818227|PMID:12827652|PMID:12850492|PMID:12885342|PMID:12908806|PMID:12955718|PMID:1301199|PMID:1301203|PMID:1301930|PMID:1301952|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:13509426|PMID:1353069|PMID:13590135|PMID:13618691|PMID:13634986|PMID:13685866|PMID:13716727|PMID:13716853|PMID:1374896|PMID:1376298|PMID:1384315|PMID:13852872|PMID:13872094|PMID:13897827|PMID:1390250|PMID:13911805|PMID:1398296|PMID:14081243|PMID:14084634|PMID:14160125|PMID:14197371|PMID:14198723|PMID:1420507|PMID:1427786|PMID:14282052|PMID:1428943|PMID:1428944|PMID:1428946|PMID:1428947|PMID:14311973|PMID:14343445|PMID:14370233|PMID:14405428|PMID:14452533|PMID:14492555|PMID:14555304|PMID:14555318|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14649318|PMID:14715623|PMID:14734204|PMID:14808148|PMID:1483699|PMID:1487424|PMID:14973|PMID:15000665|PMID:15008262|PMID:15008267|PMID:15009072|PMID:15065210|PMID:15108284|PMID:15114532|PMID:1511973|PMID:15153712|PMID:1515453|PMID:1515649|PMID:1517107|PMID:1517108|PMID:1517109|PMID:1517110|PMID:1517111|PMID:15181845|PMID:1520612|PMID:15257926|PMID:15278762|PMID:15315794|PMID:15333505|PMID:1536956|PMID:15395398|PMID:1545796|PMID:15470211|PMID:15470216|PMID:15481884|PMID:15481885|PMID:15481886|PMID:15481891|PMID:15481893|PMID:15481896|PMID:1550780|PMID:15543018|PMID:15641237|PMID:15654898|PMID:15658184|PMID:15658190|PMID:15658193|PMID:15697092|PMID:15761692|PMID:15768552|PMID:1577489|PMID:1581247|PMID:1586746|PMID:15929117|PMID:15933066|PMID:15973412|PMID:15977037|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16114184|PMID:16114187|PMID:16114188|PMID:16126871|PMID:16175509|PMID:16178917|PMID:16199547|PMID:16225661|PMID:16266911|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634360|PMID:1634366|PMID:1634368|PMID:16370487|PMID:16370495|PMID:16421096|PMID:16466947|PMID:16470532|PMID:16540414|PMID:16540415|PMID:16732578|PMID:16750922|PMID:1680789|PMID:16821247|PMID:1686262|PMID:1698102|PMID:16987798|PMID:16987801|PMID:17007829|PMID:17008283|PMID:1705411|PMID:1709134|PMID:17145605|PMID:1716997|PMID:1717406|PMID:1719807|PMID:17278112|PMID:1728311|PMID:17287491|PMID:1729892|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365003|PMID:17365006|PMID:1740317|PMID:17486493|PMID:17486497|PMID:17486498|PMID:17486505|PMID:17565724|PMID:17576681|PMID:17598223|PMID:17606453|PMID:17654075|PMID:17655700|PMID:1769663|PMID:1772786|PMID:17768122|PMID:17774955|PMID:1777603|PMID:1787101|PMID:17900295|PMID:17932132|PMID:17949282|PMID:17994377|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18056002 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:12241 beta thalassemia ISO RGD:736606 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia PMID:18076350|PMID:18081706|PMID:18096416|PMID:18105244|PMID:1814858|PMID:18192399|PMID:18266208|PMID:18294253|PMID:18339318|PMID:18403562|PMID:18473247|PMID:18473248|PMID:18486569|PMID:18495504|PMID:1850955|PMID:18523401|PMID:18568278|PMID:1856830|PMID:18591626|PMID:18603555|PMID:18619001|PMID:18654889|PMID:18694524|PMID:1873227|PMID:18759082|PMID:18793248|PMID:18818920|PMID:18829352|PMID:1891024|PMID:18932067|PMID:18932071|PMID:18954999|PMID:1897518|PMID:18976160|PMID:19000664|PMID:19034506|PMID:19061217|PMID:19092326|PMID:19103851|PMID:19125249|PMID:1917531|PMID:19205970|PMID:19205975|PMID:19254853|PMID:19290524|PMID:19372376|PMID:19429541|PMID:19437135|PMID:19440680|PMID:19460936|PMID:19465909|PMID:19486366|PMID:19488752|PMID:19500561|PMID:1951306|PMID:1954392|PMID:1960615|PMID:19631632|PMID:19657836|PMID:19657842|PMID:1967205|PMID:1971109|PMID:19727720|PMID:1974422|PMID:19750260|PMID:19758965|PMID:19841268|PMID:19843386|PMID:1986365|PMID:1986379|PMID:1995096|PMID:19958184|PMID:19958185|PMID:19958198|PMID:19960060|PMID:2001456|PMID:20035706|PMID:2004023|PMID:2005117|PMID:20110664|PMID:20113284|PMID:20113289|PMID:20113295|PMID:20113296|PMID:20132300|PMID:2014803|PMID:20181291|PMID:2018842|PMID:20230396|PMID:20233970|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20309827|PMID:20324533|PMID:20353354|PMID:20395516|PMID:20406103|PMID:20412082|PMID:2043469|PMID:20437613|PMID:20492708|PMID:20524821|PMID:20532507|PMID:20628988|PMID:20642337|PMID:2064964|PMID:2070092|PMID:20704537|PMID:2071159|PMID:20737602|PMID:20788973|PMID:2079434|PMID:2079437|PMID:20854120|PMID:20854126|PMID:20861612|PMID:20942|PMID:20954261|PMID:20975770|PMID:20981092|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21194265|PMID:2120891|PMID:21228398|PMID:2123063|PMID:21232998|PMID:21250876|PMID:21250885|PMID:21302591|PMID:21329186|PMID:21333566|PMID:21353607|PMID:21389146|PMID:21417574|PMID:21423179|PMID:21509314|PMID:21523319|PMID:21529713|PMID:21599435|PMID:21704277|PMID:21732929|PMID:21733559|PMID:21797702|PMID:21797703|PMID:21801233|PMID:21845419|PMID:21879898|PMID:21892914|PMID:21931510|PMID:2197725|PMID:21978377|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:2207008|PMID:22074124|PMID:22075726|PMID:22089620|PMID:22109911|PMID:22110956|PMID:22122796|PMID:2214342|PMID:22145566|PMID:22180324|PMID:22188014|PMID:22200002|PMID:22233277|PMID:22239493|PMID:22244832|PMID:22260787|PMID:22271886|PMID:2232267|PMID:22335963|PMID:22356097|PMID:22392582|PMID:2239966|PMID:22409273|PMID:22563936|PMID:22625666|PMID:2265836|PMID:22675570|PMID:22690826|PMID:2272839|PMID:2272840|PMID:22734501|PMID:22734587|PMID:22737496|PMID:22738610|PMID:22738642|PMID:2283297|PMID:2283299|PMID:2283300|PMID:2283303|PMID:22851993|PMID:22875618|PMID:22896714|PMID:22898041|PMID:2291577|PMID:22957039|PMID:2296310|PMID:22975760|PMID:22981786|PMID:22983591|PMID:2298457|PMID:2298920|PMID:23001606|PMID:2306523|PMID:23065522|PMID:2307460|PMID:23094636|PMID:23106651|PMID:2310691|PMID:23129722|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23350016|PMID:23362932|PMID:23383304|PMID:23398055|PMID:23425204|PMID:23431002|PMID:23457306|PMID:2346726|PMID:23510507|PMID:23525874|PMID:23586372|PMID:23590330|PMID:23590658|PMID:23591685|PMID:23606168|PMID:23637309|PMID:23651435|PMID:2366586|PMID:23665927|PMID:23729725|PMID:237566|PMID:2375910|PMID:2375912|PMID:23806067|PMID:23812938|PMID:23859443|PMID:23878091|PMID:23889802|PMID:23915319|PMID:2393018|PMID:2393712|PMID:239952|PMID:2399911|PMID:24033266|PMID:24052702|PMID:24052746|PMID:24055728|PMID:24065537|PMID:24080465|PMID:24086942|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200101|PMID:24200214|PMID:2424301|PMID:24245819|PMID:24265529|PMID:2430648|PMID:2434529|PMID:24368026|PMID:24369358|PMID:24385794|PMID:2439149|PMID:24401016|PMID:2440502|PMID:24450243|PMID:2446680|PMID:24493127|PMID:2456798|PMID:2458145|PMID:24581976|PMID:2460127|PMID:24616059|PMID:24616209 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:12241 beta thalassemia ISO RGD:736606 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia PMID:2467892|PMID:24682197|PMID:24719849|PMID:24744675|PMID:24754789|PMID:24777453|PMID:24814631|PMID:24828949|PMID:24857915|PMID:24878022|PMID:24880717|PMID:24957539|PMID:24986053|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25130136|PMID:25135424|PMID:25155404|PMID:25244406|PMID:2525253|PMID:25268796|PMID:25332589|PMID:25355712|PMID:25370867|PMID:2539344|PMID:25405919|PMID:25408857|PMID:25412720|PMID:2542242|PMID:25469539|PMID:25471338|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25525381|PMID:25526804|PMID:25541274|PMID:25572182|PMID:25572186|PMID:25572187|PMID:25617386|PMID:2563949|PMID:25657036|PMID:25666204|PMID:25669128|PMID:25677748|PMID:25682598|PMID:25741868|PMID:25754248|PMID:25762031|PMID:2577233|PMID:2579336|PMID:25806420|PMID:25818823|PMID:2582106|PMID:25825561|PMID:25849334|PMID:25856402|PMID:25905082|PMID:25910213|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26041423|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26076395|PMID:26076396|PMID:26079343|PMID:26084319|PMID:26096710|PMID:26097845|PMID:26119666|PMID:26182339|PMID:26193974|PMID:26202972|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:2634674|PMID:26351951|PMID:26366554|PMID:26372199|PMID:26372288|PMID:26402558|PMID:26410419|PMID:26418075|PMID:26436569|PMID:26467025|PMID:26524961|PMID:26544676|PMID:26554253|PMID:26554738|PMID:26554862|PMID:26594346|PMID:26635043|PMID:2665856|PMID:26661037|PMID:26715484|PMID:26771086|PMID:26850598|PMID:26877226|PMID:26897028|PMID:26901597|PMID:26948378|PMID:26956563|PMID:2703241|PMID:27032675|PMID:2703363|PMID:2703366|PMID:2703367|PMID:2703368|PMID:27117567|PMID:27117572|PMID:27132|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27258795|PMID:27263053|PMID:27264516|PMID:27264598|PMID:2730955|PMID:27339814|PMID:2736244|PMID:27408413|PMID:2741940|PMID:27427187|PMID:27453201|PMID:27492766|PMID:2752127|PMID:27521855|PMID:27521862|PMID:27535164|PMID:2753736|PMID:27651169|PMID:27690257|PMID:27718361|PMID:2775294|PMID:27756326|PMID:27765567|PMID:27785405|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829298|PMID:27829304|PMID:27848919|PMID:27884173|PMID:27979672|PMID:27981798|PMID:2804366|PMID:28125089|PMID:2816924|PMID:2822177|PMID:28251416|PMID:28276871|PMID:28356267|PMID:28361595|PMID:28366028|PMID:2837728|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28433609|PMID:284392|PMID:28460555|PMID:28475449|PMID:28492532|PMID:28503568|PMID:28603845|PMID:28635337|PMID:28643346|PMID:28667000|PMID:28670940|PMID:28670947|PMID:28671035|PMID:2867271|PMID:28680605|PMID:287080|PMID:2875755|PMID:28768465|PMID:28794124|PMID:28800727|PMID:28802248|PMID:28865746|PMID:2887538|PMID:2888754|PMID:28904057|PMID:2891298|PMID:2893541|PMID:2895770|PMID:2897787|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2901867|PMID:2903765|PMID:29076137|PMID:29082517|PMID:29157184|PMID:2915972|PMID:2917118|PMID:29171316|PMID:2917193|PMID:29182041|PMID:29188602|PMID:2920213|PMID:2920214|PMID:2921044|PMID:29240028|PMID:29251008|PMID:29295702|PMID:2930724|PMID:29313434|PMID:29319890|PMID:29365076|PMID:29379553|PMID:29403210|PMID:29464999|PMID:29484903|PMID:29695942|PMID:29717566|PMID:2987224|PMID:2987809|PMID:29893155|PMID:30002798|PMID:3002527|PMID:30033078|PMID:30046479|PMID:30047296|PMID:3006832|PMID:3014870|PMID:30173596|PMID:3021139|PMID:3021607|PMID:30249157|PMID:3024968|PMID:30275481|PMID:30309760|PMID:3031297|PMID:30315176|PMID:30422720|PMID:30423154|PMID:3048433|PMID:30489691|PMID:30501529|PMID:30604644|PMID:30626236|PMID:30626242|PMID:30809867|PMID:30843739|PMID:3108201|PMID:31096791|PMID:31106603|PMID:31108495|PMID:31130284|PMID:31134759|PMID:31139532|PMID:3114175|PMID:31145010|PMID:3115700|PMID:31164695|PMID:31190580|PMID:31240559|PMID:31268351|PMID:31304856|PMID:3130858|PMID:31394941|PMID:31395865|PMID:31397596|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:3170240|PMID:31714438|PMID:31718331|PMID:31766235|PMID:31890591|PMID:31934147 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:12241 beta thalassemia ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia PMID:32001505|PMID:32033288|PMID:32039214|PMID:32069775|PMID:32126744|PMID:32142096|PMID:32190157|PMID:32412692|PMID:32414341|PMID:32420772|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3260032|PMID:32672086|PMID:3267215|PMID:32674615|PMID:32722952|PMID:32860008|PMID:32885601|PMID:32986258|PMID:33091040|PMID:33092544|PMID:33116287|PMID:33244864|PMID:33287582|PMID:33335418|PMID:3343245|PMID:33439495|PMID:33491330|PMID:3354556|PMID:33602051|PMID:3382401|PMID:33829933|PMID:3384706|PMID:3384712|PMID:33851260|PMID:3387213|PMID:33966551|PMID:33971252|PMID:3403716|PMID:3408672|PMID:34092029|PMID:3417300|PMID:3422218|PMID:34258108|PMID:34293487|PMID:34334128|PMID:34426522|PMID:3446652|PMID:34474730|PMID:3457470|PMID:3462712|PMID:34749363|PMID:35336809|PMID:3557993|PMID:3557998|PMID:36073655|PMID:36184|PMID:3623977|PMID:3671081|PMID:3683554|PMID:3689700|PMID:3690667|PMID:3691763|PMID:3752087|PMID:3754244|PMID:3758492|PMID:3768534|PMID:3780671|PMID:3799593|PMID:3821796|PMID:3828533|PMID:3838975|PMID:3839771|PMID:3840039|PMID:3859465|PMID:3866233|PMID:3923770|PMID:3937827|PMID:3942130|PMID:3955238|PMID:3957690|PMID:3957694|PMID:3957922|PMID:4018033|PMID:4078867|PMID:4086303|PMID:4086306|PMID:4129558|PMID:4232783|PMID:429843|PMID:4351905|PMID:4361439|PMID:4407364|PMID:4413625|PMID:4512457|PMID:4514958|PMID:4525423|PMID:457425|PMID:457426|PMID:4683875|PMID:4808644|PMID:4841979|PMID:49057|PMID:4942314|PMID:4981790|PMID:4991321|PMID:4994348|PMID:5022448|PMID:5050915|PMID:5059650|PMID:5079107|PMID:5097135|PMID:5129589|PMID:5283757|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5634912|PMID:5637049|PMID:5658717|PMID:5672850|PMID:5710451|PMID:5713642|PMID:5722880|PMID:5773089|PMID:5785231|PMID:5791015|PMID:5851873|PMID:5856115|PMID:5863839|PMID:5869485|PMID:5881530|PMID:5886928|PMID:5915974|PMID:5925329|PMID:5961314|PMID:5972415|PMID:598514|PMID:5996551|PMID:6016610|PMID:6019668|PMID:6021187|PMID:6029950|PMID:6033745|PMID:6034218|PMID:6050213|PMID:6054484|PMID:6067323|PMID:6086605|PMID:6089938|PMID:6101206|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:622390|PMID:6246994|PMID:6248489|PMID:6251466|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6271242|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6280138|PMID:6285354|PMID:6292840|PMID:6298782|PMID:6304979|PMID:6308558|PMID:6310991|PMID:6316272|PMID:6318797|PMID:6320218|PMID:6322284|PMID:640855|PMID:6434492|PMID:6457059|PMID:6469698|PMID:6500990|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585381|PMID:6585831|PMID:6629828|PMID:6646217|PMID:6664996|PMID:6668188|PMID:6671904|PMID:6695908|PMID:6714226|PMID:6733281|PMID:6745619|PMID:6769116|PMID:6821648|PMID:6826539|PMID:6852251|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7104238|PMID:711920|PMID:7137165|PMID:7141876|PMID:7151176|PMID:7173395|PMID:7177196|PMID:7190137|PMID:7204093|PMID:7204096|PMID:7204097|PMID:721611|PMID:721614|PMID:7229029|PMID:7312624|PMID:7338475|PMID:7357091|PMID:7372598|PMID:7384810|PMID:7395858|PMID:7505125|PMID:750553|PMID:750554|PMID:7507641|PMID:7522523|PMID:7530406|PMID:7558874|PMID:7558878|PMID:7558879|PMID:7599641|PMID:7615400|PMID:7632967|PMID:7655036|PMID:7663000|PMID:7668219|PMID:7668221|PMID:7669681|PMID:7683931|PMID:7691242|PMID:7713749|PMID:7755625|PMID:7759073|PMID:7794779|PMID:7795641|PMID:7819068|PMID:7852087|PMID:7852088|PMID:7852091|PMID:7860732|PMID:7864023|PMID:7899267|PMID:7907594|PMID:7908281|PMID:7909640|PMID:7928376|PMID:7929232|PMID:7993409|PMID:8019567|PMID:8037185|PMID:8037197|PMID:8042613|PMID:808079|PMID:8081396|PMID:8091935|PMID:8094943|PMID:8095930|PMID:8111050|PMID:8112743|PMID:8144351|PMID:8144354|PMID:8144356|PMID:8144357|PMID:8144358|PMID:8161774|PMID:8172199|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8225319|PMID:8226093|PMID:8226099|PMID:8251381|PMID:8257991|PMID:826073|PMID:8262525|PMID:8270260|PMID:8318995|PMID:8330972|PMID:8330981|PMID:8338769|PMID:8373896|PMID:8435318|PMID:8438884|PMID:8454469 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:12241 beta thalassemia ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia PMID:8462981|PMID:8477263|PMID:8485062|PMID:8494004|PMID:8518184|PMID:8537236|PMID:8562944|PMID:8602996|PMID:8619407|PMID:8629112|PMID:8638609|PMID:8682512|PMID:8703815|PMID:8718699|PMID:8718703|PMID:8811316|PMID:8839873|PMID:8856098|PMID:88735|PMID:8874232|PMID:8889595|PMID:8917506|PMID:891976|PMID:893136|PMID:893139|PMID:8952150|PMID:8978308|PMID:8980256|PMID:8990020|PMID:9028819|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101282|PMID:9101288|PMID:9113933|PMID:9140717|PMID:9140720|PMID:9160698|PMID:9163585|PMID:9163586|PMID:9223924|PMID:9225979|PMID:9234571|PMID:932531|PMID:9340427|PMID:9342003|PMID:9353871|PMID:9371531|PMID:9371533|PMID:9401495|PMID:9415845|PMID:9427726|PMID:9450794|PMID:9490703|PMID:9494052|PMID:9494053|PMID:9495372|PMID:9536098|PMID:9556665|PMID:9560205|PMID:9586437|PMID:9625056|PMID:9629504|PMID:9653159|PMID:9730368|PMID:974261|PMID:9785927|PMID:9792288|PMID:9830011|PMID:9834244|PMID:9845707|PMID:9846016|PMID:9859938|PMID:9875660|PMID:992050|PMID:993333|PMID:9949622|PMID:998617 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:12241 beta thalassemia treatment ISO RGD:736606 D RGD:9068941 20200609 RGD PMID:16631345|REF_RGD_ID:11353868 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:12365 malaria ISO RGD:736606 D RGD:7240710 20230505 OMIM 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:12365 malaria ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malaria, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10203101|PMID:10335989|PMID:10583251|PMID:10602954|PMID:10612821|PMID:10815781|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11425418|PMID:11545326|PMID:11559932|PMID:11713529|PMID:11741197|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939510|PMID:12000828|PMID:12124399|PMID:12144057|PMID:12149194|PMID:12383672|PMID:12702481|PMID:12764548|PMID:12818227|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1353069|PMID:13618691|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:1390250|PMID:14084634|PMID:1427786|PMID:1428944|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:15181845|PMID:15278762|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634368|PMID:16421096|PMID:16470532|PMID:16750922|PMID:1680789|PMID:16821247|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:17486505|PMID:17576681|PMID:1769663|PMID:17774955|PMID:17932132|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18192399|PMID:18294253|PMID:18568278|PMID:18603555|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1917531|PMID:19254853|PMID:19429541|PMID:19440680|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19657842|PMID:1967205|PMID:19727720|PMID:19758965|PMID:19841268|PMID:1986365|PMID:1986379|PMID:19958185|PMID:19960060|PMID:2004023|PMID:20132300|PMID:20181291|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20628988|PMID:20704537|PMID:20737602|PMID:20788973|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21509314|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22110956|PMID:22188014|PMID:22200002|PMID:22244832|PMID:22260787|PMID:22271886|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23425204|PMID:23457306|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23729725|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24368026|PMID:24369358|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25155404|PMID:25332589|PMID:25370867|PMID:25408857|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25572186|PMID:25617386|PMID:25666204|PMID:25741868|PMID:2577233|PMID:2579336|PMID:2582106|PMID:25849334|PMID:25856402|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26554253|PMID:26554862|PMID:26661037|PMID:26897028|PMID:26956563|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:27690257|PMID:27821015|PMID:27823958|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28251416|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:28802248|PMID:28865746|PMID:2888754|PMID:2891298 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:12365 malaria ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malaria, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to PMID:2893541|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29319890|PMID:29484903|PMID:29695942|PMID:2987224|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30249157|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30604644|PMID:30843739|PMID:31096791|PMID:31130284|PMID:31134759|PMID:31268351|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31890591|PMID:32039214|PMID:32126744|PMID:32190157|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3267215|PMID:32860008|PMID:33091040|PMID:33116287|PMID:3354556|PMID:33851260|PMID:34092029|PMID:3422218|PMID:34334128|PMID:34426522|PMID:3462712|PMID:34749363|PMID:36073655|PMID:3623977|PMID:3690667|PMID:3691763|PMID:3752087|PMID:3821796|PMID:3840039|PMID:3859465|PMID:3957690|PMID:4232783|PMID:4351905|PMID:4683875|PMID:49057|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5658717|PMID:5863839|PMID:5915974|PMID:6019668|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6246994|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6304979|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6434492|PMID:6457059|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585831|PMID:6695908|PMID:6714226|PMID:6745619|PMID:6821648|PMID:6826539|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7137165|PMID:7151176|PMID:7177196|PMID:7229029|PMID:7312624|PMID:7384810|PMID:7395858|PMID:7522523|PMID:7558878|PMID:7668219|PMID:7908281|PMID:7993409|PMID:8095930|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8262525|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8839873|PMID:88735|PMID:8917506|PMID:893136|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140720|PMID:9163586|PMID:9225979|PMID:9342003|PMID:9401495|PMID:9450794|PMID:9490703|PMID:9536098|PMID:9556665|PMID:9586437|PMID:9653159|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9949622 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:12365 malaria resistance ISO RGD:736606 D RGD:9068941 20200609 RGD Hemoglobin C; DNA:polymorphism:CDS:69G>A, amino acid E6K PMID:11001883|REF_RGD_ID:1600894 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:14067 Plasmodium falciparum malaria ISO RGD:736606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20305663 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:14330 Parkinson's disease ISO RGD:736606 D RGD:9068941 20200609 RGD protein:decreased expression:brain, mitochondrion PMID:24333691|REF_RGD_ID:10449046 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:1496 echinococcosis ISO RGD:736606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24270252 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:1584 acute chest syndrome ISO RGD:736606 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes PMID:23952145|REF_RGD_ID:10449047 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:2355 anemia ISO RGD:736606 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anemia PMID:10602954|PMID:11425418|PMID:11545326|PMID:11741197|PMID:11830454|PMID:11880644|PMID:12124399|PMID:12149194|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1347969|PMID:13716853|PMID:1376298|PMID:13852872|PMID:13892631|PMID:14084634|PMID:14133899|PMID:14734204|PMID:15114532|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15658184|PMID:16001361|PMID:16114182|PMID:16750922|PMID:1693293|PMID:17278112|PMID:17287491|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18192399|PMID:18568278|PMID:19061217|PMID:19440680|PMID:19465909|PMID:1960615|PMID:19758965|PMID:19841268|PMID:1986365|PMID:19958185|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20492708|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21131035|PMID:21302591|PMID:21329186|PMID:21529713|PMID:21732929|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22244832|PMID:22260787|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23729725|PMID:24033266|PMID:24123366|PMID:24368026|PMID:2442092|PMID:24493127|PMID:24581976|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25370867|PMID:25741868|PMID:2579336|PMID:2582106|PMID:26041415|PMID:26275168|PMID:26372199|PMID:26554862|PMID:27117572|PMID:27254408|PMID:27884173|PMID:28356267|PMID:28492532|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2898142|PMID:2898460|PMID:30002798|PMID:30033078|PMID:3031297|PMID:30315176|PMID:3048433|PMID:31553106|PMID:32527859|PMID:3267215|PMID:33116287|PMID:3354556|PMID:34334128|PMID:34749363|PMID:36073655|PMID:3690667|PMID:3752087|PMID:3821796|PMID:4232783|PMID:4351905|PMID:4625560|PMID:49057|PMID:5658717|PMID:5660684|PMID:5863839|PMID:5964983|PMID:6166632|PMID:6198908|PMID:6268660|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6583683|PMID:6584911|PMID:6859036|PMID:700140|PMID:7177196|PMID:7384810|PMID:7395858|PMID:7993409|PMID:81926|PMID:8199597|PMID:8462981|PMID:8839873|PMID:893136|PMID:909565|PMID:9653159|PMID:9859938 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:2859 hemoglobin C disease ISO RGD:736606 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN C PMID:11001883|PMID:11713529|PMID:12818227|PMID:13108995|PMID:13115700|PMID:13618691|PMID:13685866|PMID:14405428|PMID:14492555|PMID:14613965|PMID:14808148|PMID:15000665|PMID:15973412|PMID:16175509|PMID:1680789|PMID:17774955|PMID:18048408|PMID:19061217|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20305663|PMID:22075726|PMID:2239966|PMID:23297836|PMID:23591685|PMID:2412200|PMID:25488433|PMID:25741868|PMID:26372199|PMID:26661037|PMID:27117572|PMID:28251416|PMID:28492532|PMID:2888754|PMID:30604644|PMID:33091040|PMID:33116287|PMID:7137165|PMID:7229029|PMID:8201467|PMID:9556665 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:2860 hemoglobinopathy ISO RGD:736606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN ABRUZZO | ClinVar Annotator: match by term: HEMOGLOBIN ATHENS-GEORGIA | ClinVar Annotator: match by term: HEMOGLOBIN BEIRUT | ClinVar Annotator: match by term: HEMOGLOBIN HIKARI | ClinVar Annotator: match by term: HEMOGLOBIN J (LOME) | ClinVar Annotator: match by term: HEMOGLOBIN K (WOOLWICH) | ClinVar Annotator: match by term: HEMOGLOBIN RALEIGH | ClinVar Annotator: match by term: HEMOGLOBIN SAALE | ClinVar Annotator: match by term: HEMOGLOBIN SHELBY | ClinVar Annotator: match by term: HEMOGLOBIN TENDE | ClinVar Annotator: match by term: HEMOGLOBIN TYNE | ClinVar Annotator: match by term: HEMOGLOBIN YUSA | ClinVar Annotator: match by term: Hemoglobinopathy PMID:1002699|PMID:10081984|PMID:10490144|PMID:10770934|PMID:10804732|PMID:10815781|PMID:10840054|PMID:10975438|PMID:11074564|PMID:11167851|PMID:1117598|PMID:1138885|PMID:11532628|PMID:1158862|PMID:1164510|PMID:11722417|PMID:11791873|PMID:11857746|PMID:1225575|PMID:12368169|PMID:12403498|PMID:1244915|PMID:12621249|PMID:12709369|PMID:12752111|PMID:12779277|PMID:12955718|PMID:1384315|PMID:13911808|PMID:14197371|PMID:14198723|PMID:14597|PMID:1463768|PMID:14686490|PMID:14734204|PMID:15008262|PMID:15108284|PMID:1520612|PMID:15315794|PMID:1536956|PMID:15653458|PMID:15658193|PMID:15727901|PMID:15761692|PMID:15768557|PMID:16282896|PMID:1634360|PMID:16466947|PMID:16732578|PMID:1686262|PMID:16987801|PMID:17007829|PMID:17008283|PMID:1717406|PMID:17606453|PMID:1769663|PMID:1787097|PMID:17932132|PMID:17949282|PMID:17994378|PMID:18096416|PMID:18173741|PMID:18294253|PMID:18339318|PMID:18498386|PMID:1850955|PMID:1856830|PMID:18654884|PMID:18654889|PMID:1873227|PMID:18793248|PMID:18818920|PMID:18954999|PMID:18976160|PMID:19205970|PMID:19254853|PMID:19429541|PMID:19460936|PMID:19486366|PMID:1951318|PMID:1954392|PMID:1974422|PMID:1986379|PMID:2014803|PMID:2018842|PMID:20301599|PMID:20309827|PMID:20353352|PMID:20353353|PMID:20395516|PMID:20437613|PMID:20524821|PMID:2064964|PMID:20704537|PMID:20838957|PMID:20942|PMID:2105568|PMID:21119755|PMID:21232998|PMID:21389146|PMID:21423179|PMID:21523319|PMID:21599435|PMID:21797703|PMID:2197725|PMID:22074124|PMID:22145566|PMID:22180324|PMID:22239493|PMID:22392582|PMID:22675570|PMID:2283301|PMID:2291577|PMID:22975760|PMID:2298920|PMID:22995479|PMID:23321370|PMID:23383304|PMID:23491071|PMID:23510507|PMID:23525874|PMID:23590330|PMID:23637309|PMID:2375910|PMID:2384310|PMID:23859443|PMID:239863|PMID:239943|PMID:2399911|PMID:24099628|PMID:24265529|PMID:2458145|PMID:2467892|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25087612|PMID:25089872|PMID:25130136|PMID:25135424|PMID:25332589|PMID:25408857|PMID:25412720|PMID:25480500|PMID:25677748|PMID:25707679|PMID:25741868|PMID:25905082|PMID:25976460|PMID:2599881|PMID:26076395|PMID:26076396|PMID:26079343|PMID:26084319|PMID:26372288|PMID:26418075|PMID:26467025|PMID:26522187|PMID:26544676|PMID:26594346|PMID:26635043|PMID:26790389|PMID:26948378|PMID:26956563|PMID:27032675|PMID:2703367|PMID:2703368|PMID:27117567|PMID:27207683|PMID:27263053|PMID:27264516|PMID:2752127|PMID:2757008|PMID:27651169|PMID:27670359|PMID:27756326|PMID:27765567|PMID:27821015|PMID:27828729|PMID:28125089|PMID:28366028|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28603845|PMID:28670940|PMID:28671035|PMID:2901867|PMID:29295702|PMID:29790589|PMID:30046479|PMID:3006832|PMID:30249157|PMID:3024968|PMID:30275481|PMID:30423154|PMID:30489691|PMID:31134759|PMID:3114175|PMID:31190580|PMID:31240559|PMID:31304856|PMID:31395865|PMID:31553106|PMID:31589614|PMID:31714438|PMID:32190157|PMID:32411010|PMID:32412692|PMID:32925409|PMID:32986258|PMID:33287582|PMID:33489049|PMID:33602051|PMID:33829933|PMID:3391614|PMID:33971252|PMID:3403716|PMID:3462712|PMID:35336809|PMID:3557994|PMID:3557996|PMID:3583764|PMID:3588028|PMID:3756101|PMID:3768534|PMID:3942130|PMID:3955238|PMID:3957694|PMID:4101432|PMID:4514958|PMID:457426|PMID:4685078|PMID:4808644|PMID:4942314|PMID:4999133|PMID:5031790|PMID:5056652|PMID:5059650|PMID:5079107|PMID:5577462|PMID:5684629|PMID:5750181|PMID:5782115|PMID:5791730|PMID:5856115|PMID:5881530|PMID:5919752|PMID:598514|PMID:6029950|PMID:6038175|PMID:604313|PMID:6050213|PMID:6054966|PMID:6067323|PMID:6086605|PMID:6249934|PMID:6469698|PMID:6526653|PMID:6646217|PMID:6664996|PMID:6668188|PMID:6668191|PMID:6714226|PMID:6733281|PMID:6874374|PMID:6879181|PMID:6998928|PMID:7104238|PMID:7158624|PMID:7173395|PMID:7204093|PMID:7353889|PMID:7390864|PMID:7407240|PMID:747178|PMID:7510147|PMID:7530406|PMID:7558878|PMID:7558879|PMID:7615400|PMID:7693620|PMID:7786794|PMID:7852087|PMID:7852088|PMID:7860732|PMID:7864023|PMID:7928379|PMID:8112743|PMID:8114|PMID:8144354|PMID:8225319|PMID:8226093|PMID:8226094|PMID:8330980 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:2860 hemoglobinopathy ISO RGD:736606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN ABRUZZO | ClinVar Annotator: match by term: HEMOGLOBIN ATHENS-GEORGIA | ClinVar Annotator: match by term: HEMOGLOBIN BEIRUT | ClinVar Annotator: match by term: HEMOGLOBIN HIKARI | ClinVar Annotator: match by term: HEMOGLOBIN J (LOME) | ClinVar Annotator: match by term: HEMOGLOBIN K (WOOLWICH) | ClinVar Annotator: match by term: HEMOGLOBIN RALEIGH | ClinVar Annotator: match by term: HEMOGLOBIN SAALE | ClinVar Annotator: match by term: HEMOGLOBIN SHELBY | ClinVar Annotator: match by term: HEMOGLOBIN TENDE | ClinVar Annotator: match by term: HEMOGLOBIN TYNE | ClinVar Annotator: match by term: HEMOGLOBIN YUSA | ClinVar Annotator: match by term: Hemoglobinopathy PMID:8435318|PMID:8619407|PMID:8638609|PMID:8701949|PMID:8718703|PMID:8824225|PMID:88735|PMID:891976|PMID:9028819|PMID:9101280|PMID:9101288|PMID:9140720|PMID:9163586|PMID:9223924|PMID:9340427|PMID:9371533|PMID:9401495|PMID:9415845|PMID:9494047|PMID:9495372|PMID:9625056|PMID:9846016|PMID:9859935 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:2860 hemoglobinopathy severity ISO RGD:736606 D RGD:9068941 20200609 RGD PMID:24930900|REF_RGD_ID:10449038 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:736606 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU PMID:8280608 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:5378 hemoglobin D disease ISO RGD:736606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN D (GRANADA) | ClinVar Annotator: match by term: Hemoglobin D disease PMID:1177278|PMID:12403491|PMID:1244906|PMID:12709369|PMID:13590135|PMID:13872094|PMID:14160125|PMID:16370495|PMID:16540414|PMID:19958184|PMID:20110664|PMID:20301551|PMID:20437613|PMID:2079437|PMID:21194265|PMID:22028795|PMID:22975760|PMID:2307460|PMID:24123366|PMID:24245819|PMID:24616059|PMID:24814631|PMID:25087612|PMID:25666204|PMID:25741868|PMID:25818823|PMID:26467025|PMID:28492532|PMID:2887538|PMID:2895770|PMID:30626242|PMID:3557993|PMID:3557998|PMID:3838975|PMID:4078867|PMID:4991321|PMID:5050915|PMID:5672850|PMID:6322284|PMID:7338475|PMID:750553|PMID:8095930|PMID:9140717 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:5379 hemoglobin E disease ISO RGD:736606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemoglobin E disease PMID:11425418|PMID:12149194|PMID:12850492|PMID:13716853|PMID:14734204|PMID:15114532|PMID:15470211|PMID:15481886|PMID:16114182|PMID:16750922|PMID:17278112|PMID:18024613|PMID:18568278|PMID:19440680|PMID:1960615|PMID:19841268|PMID:20301599|PMID:20492708|PMID:21732929|PMID:22028795|PMID:22260787|PMID:24368026|PMID:24581976|PMID:25370867|PMID:25741868|PMID:26554862|PMID:28492532|PMID:3031297|PMID:4351905|PMID:5658717|PMID:5863839|PMID:6166632|PMID:6198908|PMID:6275383|PMID:6280057|PMID:6859036|PMID:700140|PMID:7177196|PMID:7395858|PMID:8839873|PMID:893136|PMID:9653159 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:583 hemolytic anemia ISO RGD:736606 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN HYOGO | ClinVar Annotator: match by term: HEMOGLOBIN MANHATTAN | ClinVar Annotator: match by term: HEMOGLOBIN NIJKERK | ClinVar Annotator: match by term: HEMOGLOBIN SABINE | ClinVar Annotator: match by term: HEMOGLOBIN VOLGA | ClinVar Annotator: match by term: Hemoglobin Zurich | ClinVar Annotator: match by term: Hemolytic anemia PMID:10335981|PMID:10804732|PMID:1138885|PMID:13716725|PMID:13726693|PMID:13895148|PMID:14314237|PMID:15653458|PMID:18654884|PMID:19429541|PMID:2105568|PMID:2363414|PMID:2384314|PMID:24055728|PMID:24904938|PMID:26467025|PMID:26635043|PMID:2705488|PMID:27686852|PMID:3014870|PMID:3138875|PMID:3240605|PMID:3395624|PMID:3781864|PMID:42311|PMID:439565|PMID:4685078|PMID:5096522|PMID:5133275|PMID:6054966|PMID:6310991|PMID:6578506|PMID:6668191|PMID:6849326|PMID:6859031|PMID:6998928|PMID:7353889|PMID:7384813|PMID:7419425|PMID:7852089|PMID:8330973|PMID:952960|PMID:9629500|PMID:9859934 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:589 congenital hemolytic anemia ISO RGD:736606 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN CHEVERLY | ClinVar Annotator: match by term: HEMOGLOBIN SANTA ANA | ClinVar Annotator: match by term: HEMOGLOBIN WASHTENAW PMID:16790675|PMID:24200101|PMID:25741868|PMID:26467025|PMID:34528613|PMID:3839771|PMID:5713642|PMID:6815132|PMID:6877904|PMID:7852083|PMID:9798654 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:630 genetic disease ISO RGD:736606 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10602954|PMID:10815781|PMID:11001883|PMID:11425418|PMID:11545326|PMID:1163074|PMID:11713529|PMID:11741197|PMID:11791873|PMID:11791878|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939510|PMID:12000828|PMID:12124399|PMID:12144064|PMID:12149194|PMID:12368169|PMID:12383672|PMID:12403498|PMID:12702481|PMID:12779277|PMID:12818227|PMID:12850492|PMID:12955718|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:13509426|PMID:13618691|PMID:13634986|PMID:13685866|PMID:13716853|PMID:1376298|PMID:1384315|PMID:13852872|PMID:13897827|PMID:1390250|PMID:13911805|PMID:14084634|PMID:14282052|PMID:1428947|PMID:14343445|PMID:14405428|PMID:14452533|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:15000665|PMID:15114532|PMID:15181845|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15658184|PMID:15697092|PMID:15929117|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:1634366|PMID:16421096|PMID:16470532|PMID:16540415|PMID:16732578|PMID:16750922|PMID:1680789|PMID:17278112|PMID:17287491|PMID:17331080|PMID:1734721|PMID:17365006|PMID:17576681|PMID:17655700|PMID:1769663|PMID:17774955|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18081706|PMID:18105244|PMID:18192399|PMID:18294253|PMID:18568278|PMID:18954999|PMID:19000664|PMID:19061217|PMID:19254853|PMID:19372376|PMID:19429541|PMID:19440680|PMID:19460936|PMID:19465909|PMID:19486366|PMID:1960615|PMID:1967205|PMID:19727720|PMID:19758965|PMID:19841268|PMID:1986365|PMID:19958185|PMID:2004023|PMID:20132300|PMID:2014803|PMID:20181291|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20324533|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20628988|PMID:2064964|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21131035|PMID:21228398|PMID:2123063|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2200760|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22145566|PMID:22188014|PMID:22239493|PMID:22244832|PMID:22260787|PMID:22271886|PMID:2232267|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23431002|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23729725|PMID:24033266|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:2434529|PMID:24368026|PMID:24369358|PMID:24493127|PMID:2458145|PMID:24581976|PMID:2460127|PMID:24744675|PMID:25000193|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25130136|PMID:25135424|PMID:25244406|PMID:25370867|PMID:25412720|PMID:25480500|PMID:25488433|PMID:25572186|PMID:25741868|PMID:2579336|PMID:25806420|PMID:2582106|PMID:25849334|PMID:25856402|PMID:25976460|PMID:26041415|PMID:26076395|PMID:26076396|PMID:26079343|PMID:26097845|PMID:26275168|PMID:26290351|PMID:26291967|PMID:26351951|PMID:26366554|PMID:26372199|PMID:26372288|PMID:26467025|PMID:26524961|PMID:26554253|PMID:26554862|PMID:26594346|PMID:26661037|PMID:26897028|PMID:26956563|PMID:27032675|PMID:2703363|PMID:27117567|PMID:27117572|PMID:27199182|PMID:27207683|PMID:27254408|PMID:27263053|PMID:27264598|PMID:27427187|PMID:27690257|PMID:27756326|PMID:27765567|PMID:27821015|PMID:27828729|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28125089|PMID:28251416|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:2875755|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2898142|PMID:2898460|PMID:2898955|PMID:29295702|PMID:29464999|PMID:29484903|PMID:29695942|PMID:30002798|PMID:30033078|PMID:30046479|PMID:3021607|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30489691|PMID:30604644|PMID:31106603|PMID:31130284|PMID:31164695|PMID:31190580|PMID:31240559|PMID:31456457|PMID:31553106|PMID:31714438|PMID:32039214|PMID:32412692 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:630 genetic disease ISO RGD:736606 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:32414341|PMID:32527859|PMID:3267215|PMID:33091040|PMID:33116287|PMID:33244864|PMID:33287582|PMID:3354556|PMID:33602051|PMID:33829933|PMID:34334128|PMID:3457470|PMID:3462712|PMID:34749363|PMID:36073655|PMID:3690667|PMID:3752087|PMID:3799593|PMID:3821796|PMID:4086306|PMID:4232783|PMID:429843|PMID:4351905|PMID:4413625|PMID:4841979|PMID:49057|PMID:5658717|PMID:5851873|PMID:5856115|PMID:5863839|PMID:5996551|PMID:6086605|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6248489|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6308558|PMID:6320218|PMID:6457059|PMID:6500990|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585831|PMID:6714226|PMID:6733281|PMID:6821648|PMID:6826539|PMID:6852251|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7137165|PMID:7177196|PMID:721614|PMID:7229029|PMID:7312624|PMID:7372598|PMID:7384810|PMID:7395858|PMID:7522523|PMID:7663000|PMID:7668219|PMID:7713749|PMID:7755625|PMID:7929232|PMID:7993409|PMID:808079|PMID:8095930|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8330981|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8518184|PMID:8619407|PMID:8839873|PMID:893136|PMID:909565|PMID:9113933|PMID:9160698|PMID:932531|PMID:9401495|PMID:9450794|PMID:9536098|PMID:9556665|PMID:9653159|PMID:9830011|PMID:9845707|PMID:9859938 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:8432 polycythemia ISO RGD:736606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythrocytosis | ClinVar Annotator: match by term: HEMOGLOBIN SAN DIEGO | ClinVar Annotator: match by term: HEMOGLOBIN SHERWOOD FOREST | ClinVar Annotator: match by term: HEMOGLOBIN SOUTH MILWAUKEE | ClinVar Annotator: match by term: HEMOGLOBIN TAK PMID:10846826|PMID:11167851|PMID:12621249|PMID:15768557|PMID:18793248|PMID:18818920|PMID:19429541|PMID:19460936|PMID:20353352|PMID:20353353|PMID:20395516|PMID:20838957|PMID:22145566|PMID:2363414|PMID:23859443|PMID:26467025|PMID:26544676|PMID:2703368|PMID:27651169|PMID:28492532|PMID:30423154|PMID:31304856|PMID:32925409|PMID:3957694|PMID:4101432|PMID:4808644|PMID:590504|PMID:604313|PMID:7204093|PMID:7295777|PMID:7417488|PMID:7615400|PMID:7918091|PMID:8144354|PMID:9494047 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:8997 polycythemia vera ISO RGD:736606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN VILLEJUIF PMID:11300351|PMID:2816924 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:9000582 Reticulocytosis ISO RGD:736606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN LAS PALMAS PMID:22718637|PMID:3384708 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:9000781 Cyanosis ISO RGD:736606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN DENVER PMID:19429541|PMID:8133661 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:9000792 Methemoglobinemia, Beta-Globin Type ISO RGD:736606 D RGD:7240710 20180130 OMIM 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:9000792 Methemoglobinemia, Beta-Globin Type ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN D (GRANADA) | ClinVar Annotator: match by term: METHEMOGLOBINEMIA, BETA TYPE | ClinVar Annotator: match by term: Methemoglobinemia, beta-globin type PMID:10203101|PMID:10335989|PMID:10583251|PMID:10602954|PMID:10612821|PMID:10815781|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11425418|PMID:11545326|PMID:11559932|PMID:11713529|PMID:11741197|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939510|PMID:12000828|PMID:12124399|PMID:12144057|PMID:12149194|PMID:12383672|PMID:12702481|PMID:12764548|PMID:1278400|PMID:12818227|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1353069|PMID:13618691|PMID:13665153|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:13897827|PMID:1390250|PMID:1398295|PMID:14084634|PMID:1427786|PMID:1428944|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:15181845|PMID:15278762|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634368|PMID:16421096|PMID:16470532|PMID:16750922|PMID:1680789|PMID:16821247|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:17486505|PMID:17576681|PMID:1769663|PMID:17774955|PMID:17932132|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18192399|PMID:18294253|PMID:18568278|PMID:18603555|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1917531|PMID:19254853|PMID:19429541|PMID:19440680|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19657842|PMID:1967205|PMID:19727720|PMID:19758965|PMID:19841268|PMID:1986365|PMID:1986379|PMID:19958185|PMID:19960060|PMID:2004023|PMID:20132300|PMID:20181291|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20628988|PMID:20704537|PMID:20737602|PMID:20788973|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21509314|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22110956|PMID:22188014|PMID:22200002|PMID:22244832|PMID:22260787|PMID:22271886|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23425204|PMID:23457306|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23729725|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24368026|PMID:24369358|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25155404|PMID:25332589|PMID:25370867|PMID:25408857|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25572186|PMID:25617386|PMID:25666204|PMID:25741868|PMID:2577233|PMID:2579336|PMID:2582106|PMID:25849334|PMID:25856402|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26554253|PMID:26554862|PMID:26661037|PMID:26897028|PMID:26956563|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:27690257|PMID:27821015|PMID:27823958|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28251416|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:9000792 Methemoglobinemia, Beta-Globin Type ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN D (GRANADA) | ClinVar Annotator: match by term: METHEMOGLOBINEMIA, BETA TYPE | ClinVar Annotator: match by term: Methemoglobinemia, beta-globin type PMID:28802248|PMID:28865746|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29319890|PMID:29484903|PMID:29695942|PMID:2987224|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30249157|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30604644|PMID:30843739|PMID:31096791|PMID:31130284|PMID:31134759|PMID:31268351|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31890591|PMID:32039214|PMID:32126744|PMID:32190157|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3267215|PMID:32860008|PMID:33091040|PMID:33116287|PMID:3354556|PMID:3377987|PMID:33851260|PMID:34092029|PMID:3422218|PMID:34334128|PMID:34426522|PMID:3462712|PMID:34749363|PMID:36073655|PMID:3623977|PMID:3690667|PMID:3691763|PMID:3752087|PMID:3821796|PMID:3838975|PMID:3840039|PMID:3859465|PMID:3957690|PMID:4232783|PMID:4311041|PMID:4351905|PMID:4683875|PMID:49057|PMID:5285571|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5658717|PMID:5669922|PMID:5863839|PMID:5900783|PMID:5915974|PMID:6019668|PMID:604314|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6246994|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6304979|PMID:6309649|PMID:6310991|PMID:6311728|PMID:6316272|PMID:6320218|PMID:6434492|PMID:6457059|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585831|PMID:6695908|PMID:6714226|PMID:6745619|PMID:6821648|PMID:6826539|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7137165|PMID:7151176|PMID:7177196|PMID:7229029|PMID:7312624|PMID:7384810|PMID:7395858|PMID:7522523|PMID:7558878|PMID:7668219|PMID:7908281|PMID:7993409|PMID:8095930|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8226097|PMID:8262525|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8839873|PMID:88735|PMID:8917506|PMID:893136|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140720|PMID:9163586|PMID:9225979|PMID:933112|PMID:9342003|PMID:9401495|PMID:9450794|PMID:9490703|PMID:9494043|PMID:9536098|PMID:9556665|PMID:9586437|PMID:9653159|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9949622 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:9001341 Chloracne ISO RGD:736606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:9002652 Alpha-Thalassemia 2 ISO RGD:736606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN RIO CLARO PMID:10335985 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:9002720 Splenomegaly ISO RGD:736606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29255069 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:9002720 Splenomegaly ISO RGD:736606 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:329C>G, amino acid H92Q PMID:10870887|REF_RGD_ID:1600896 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:9003104 Intracranial Hemorrhages ISO RGD:2783 D RGD:9068941 20200609 RGD mRNA:increased expression:basal ganglion, neuron, glial cell PMID:21725744|REF_RGD_ID:10449050 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:9004898 Jaundice ISO RGD:736606 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:329C>G, amino acid H92Q PMID:10870887|REF_RGD_ID:1600896 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:9005828 Sickle Cell Trait ISO RGD:736606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN D (IBADAN) PMID:11757720|PMID:12144055|PMID:14311973|PMID:1891024|PMID:19429541|PMID:26119666|PMID:26467025|PMID:26635043|PMID:27207683|PMID:27521855|PMID:284392|PMID:29365076|PMID:30604644|PMID:5097135|PMID:5481775|PMID:6859036|PMID:974261 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:9006205 Animal Disease Models ISO RGD:736606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23975182|PMID:29255069 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:9006672 Hemoglobin SC Disease ISO RGD:736606 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Sickle cell-hemoglobin C disease PMID:10602954|PMID:11001883|PMID:11545326|PMID:11713529|PMID:11741197|PMID:11830454|PMID:11880644|PMID:12124399|PMID:12818227|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:13618691|PMID:13685866|PMID:1376298|PMID:13852872|PMID:14084634|PMID:14405428|PMID:14492555|PMID:14613965|PMID:14808148|PMID:15000665|PMID:15395398|PMID:15543018|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16175509|PMID:1680789|PMID:17287491|PMID:17774955|PMID:1802884|PMID:18048408|PMID:18192399|PMID:19061217|PMID:19465909|PMID:19758965|PMID:1986365|PMID:19958185|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20305663|PMID:20492708|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21131035|PMID:21302591|PMID:21329186|PMID:21529713|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22244832|PMID:2239966|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23297836|PMID:23591685|PMID:23729725|PMID:24033266|PMID:2412200|PMID:24123366|PMID:24493127|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25488433|PMID:25741868|PMID:2579336|PMID:2582106|PMID:26041415|PMID:26275168|PMID:26372199|PMID:26661037|PMID:27117572|PMID:27254408|PMID:27884173|PMID:28251416|PMID:28356267|PMID:28492532|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2898142|PMID:2898460|PMID:30002798|PMID:30033078|PMID:30315176|PMID:3048433|PMID:30604644|PMID:31553106|PMID:32527859|PMID:3267215|PMID:33091040|PMID:33116287|PMID:3354556|PMID:34334128|PMID:34749363|PMID:36073655|PMID:3690667|PMID:3752087|PMID:3821796|PMID:4232783|PMID:49057|PMID:6268660|PMID:6272289|PMID:6280057|PMID:6285354|PMID:6583683|PMID:6584911|PMID:7137165|PMID:7229029|PMID:7384810|PMID:7993409|PMID:81926|PMID:8199597|PMID:8201467|PMID:8462981|PMID:909565|PMID:9556665|PMID:9859938 12098737 LOC609402 hemoglobin subunit beta-like gene DOID:9007604 Hemoglobin M Disease ISO RGD:736606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN M (SASKATOON) PMID:1163074|PMID:13509426|PMID:13634986|PMID:13897827|PMID:13911805|PMID:14343445|PMID:14452533|PMID:15929117|PMID:18105244|PMID:19727720|PMID:20324533|PMID:24744675|PMID:27264598|PMID:4086306|PMID:4413625|PMID:4841979|PMID:5851873|PMID:5856115|PMID:5996551|PMID:6248489|PMID:7372598|PMID:7663000|PMID:7713749|PMID:7755625|PMID:7929232|PMID:9830011 12098744 PLPP6 phospholipid phosphatase 6 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1606068 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12098744 PLPP6 phospholipid phosphatase 6 gene DOID:630 genetic disease ISO RGD:1606068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098749 PXYLP1 2-phosphoxylose phosphatase 1 gene DOID:630 genetic disease ISO RGD:1342803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098788 FIGLA folliculogenesis specific bHLH transcription factor gene DOID:0080863 primary ovarian insufficiency 6 ISO RGD:1602165 D RGD:7240710 20180130 OMIM 12098788 FIGLA folliculogenesis specific bHLH transcription factor gene DOID:0080863 primary ovarian insufficiency 6 ISO RGD:1602165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 6 PMID:18499083|PMID:25314148|PMID:25741868|PMID:29914564|PMID:30474133 12098788 FIGLA folliculogenesis specific bHLH transcription factor gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1602165 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 12098788 FIGLA folliculogenesis specific bHLH transcription factor gene DOID:543 dystonia ISO RGD:1602165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12098788 FIGLA folliculogenesis specific bHLH transcription factor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1602165 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 12098788 FIGLA folliculogenesis specific bHLH transcription factor gene DOID:630 genetic disease ISO RGD:1602165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098788 FIGLA folliculogenesis specific bHLH transcription factor gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1602165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12098799 C18H11orf91 chromosome 18 C11orf91 homolog gene DOID:1059 intellectual disability ISO RGD:2301118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12098799 C18H11orf91 chromosome 18 C11orf91 homolog gene DOID:630 genetic disease ISO RGD:2301118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098816 GTF3C4 general transcription factor IIIC subunit 4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1349733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12098816 GTF3C4 general transcription factor IIIC subunit 4 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1349733 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:25741868|PMID:28492532 12098816 GTF3C4 general transcription factor IIIC subunit 4 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1349733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12098816 GTF3C4 general transcription factor IIIC subunit 4 gene DOID:0081097 Rafiq syndrome ISO RGD:1349733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12098816 GTF3C4 general transcription factor IIIC subunit 4 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1349733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12098816 GTF3C4 general transcription factor IIIC subunit 4 gene DOID:3652 Leigh disease ISO RGD:1349733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12098816 GTF3C4 general transcription factor IIIC subunit 4 gene DOID:630 genetic disease ISO RGD:1349733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098893 PANX2 pannexin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1349764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12098893 PANX2 pannexin 2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1349764 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12098893 PANX2 pannexin 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1349764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12098893 PANX2 pannexin 2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1349764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12098893 PANX2 pannexin 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1349764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12098893 PANX2 pannexin 2 gene DOID:1059 intellectual disability ISO RGD:1349764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12098893 PANX2 pannexin 2 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1349764 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 12098893 PANX2 pannexin 2 gene DOID:630 genetic disease ISO RGD:1349764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098904 MAN2A2 mannosidase alpha class 2A member 2 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1321024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12098904 MAN2A2 mannosidase alpha class 2A member 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1321024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 12098904 MAN2A2 mannosidase alpha class 2A member 2 gene DOID:2717 Bloom syndrome ISO RGD:1321024 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12098904 MAN2A2 mannosidase alpha class 2A member 2 gene DOID:630 genetic disease ISO RGD:1321024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098934 BOP1 BOP1 ribosomal biogenesis factor gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1321585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12098934 BOP1 BOP1 ribosomal biogenesis factor gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1321585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12098934 BOP1 BOP1 ribosomal biogenesis factor gene DOID:4621 holoprosencephaly ISO RGD:1321585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12098934 BOP1 BOP1 ribosomal biogenesis factor gene DOID:630 genetic disease ISO RGD:1321585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098934 BOP1 BOP1 ribosomal biogenesis factor gene DOID:9000217 Stomach Neoplasms ISO RGD:1321585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12098934 BOP1 BOP1 ribosomal biogenesis factor gene DOID:9000918 Disease Progression ISO RGD:1321585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12098973 PRR16 proline rich 16 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602486 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12098973 PRR16 proline rich 16 gene DOID:630 genetic disease ISO RGD:1602486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12098973 PRR16 proline rich 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12098973 PRR16 proline rich 16 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602486 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12099025 ADCY5 adenylate cyclase 5 gene DOID:0050700 cardiomyopathy ISO RGD:736882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18029912|PMID:23536361 12099025 ADCY5 adenylate cyclase 5 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:736882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12099025 ADCY5 adenylate cyclase 5 gene DOID:0111190 distal muscular dystrophy 4 ISO RGD:736882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement PMID:25741868 12099025 ADCY5 adenylate cyclase 5 gene DOID:10763 hypertension ISO RGD:71014 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle PMID:12717102|REF_RGD_ID:13464134 12099025 ADCY5 adenylate cyclase 5 gene DOID:10763 hypertension ISO RGD:736882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12717102 12099025 ADCY5 adenylate cyclase 5 gene DOID:11476 osteoporosis ISO RGD:736882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18029912 12099025 ADCY5 adenylate cyclase 5 gene DOID:14330 Parkinson's disease ISO RGD:736883 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 12099025 ADCY5 adenylate cyclase 5 gene DOID:305 carcinoma ISO RGD:736882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12099025 ADCY5 adenylate cyclase 5 gene DOID:630 genetic disease ISO RGD:736882 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11310626|PMID:24700542|PMID:25326635|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28492532|PMID:28511835|PMID:28971144|PMID:32713175 12099025 ADCY5 adenylate cyclase 5 gene DOID:9000100 NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA ISO RGD:736882 D RGD:7240710 20220216 OMIM 12099025 ADCY5 adenylate cyclase 5 gene DOID:9000100 NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA ISO RGD:736882 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia PMID:25741868|PMID:28492532|PMID:33704598|PMID:34631954 12099025 ADCY5 adenylate cyclase 5 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12099025 ADCY5 adenylate cyclase 5 gene DOID:9000784 Fibrosis ISO RGD:736882 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25193472 12099025 ADCY5 adenylate cyclase 5 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:736882 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25193472 12099025 ADCY5 adenylate cyclase 5 gene DOID:9002949 Dyskinesia with Orofacial Involvement, Autosomal Recessive ISO RGD:736882 D RGD:7240710 20220209 OMIM 12099025 ADCY5 adenylate cyclase 5 gene DOID:9002949 Dyskinesia with Orofacial Involvement, Autosomal Recessive ISO RGD:736882 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dyskinesia with orofacial involvement, autosomal recessive PMID:25741868|PMID:28492532|PMID:28971144|PMID:30975617 12099025 ADCY5 adenylate cyclase 5 gene DOID:9003996 Birth Weight ISO RGD:736882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23202124 12099025 ADCY5 adenylate cyclase 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12099025 ADCY5 adenylate cyclase 5 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12099025 ADCY5 adenylate cyclase 5 gene DOID:9006115 Dyskinesia with Orofacial Involvement, Autosomal Dominant ISO RGD:736882 D RGD:7240710 20230308 OMIM 12099025 ADCY5 adenylate cyclase 5 gene DOID:9006115 Dyskinesia with Orofacial Involvement, Autosomal Dominant ISO RGD:736882 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskinesia with orofacial involvement, autosomal dominant PMID:1003446|PMID:11310626|PMID:11445636|PMID:152174|PMID:16199547|PMID:16537460|PMID:22782511|PMID:24700542|PMID:25326635|PMID:25545163|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:27931826|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:31181574|PMID:31501304|PMID:31731261|PMID:32627162|PMID:32713175|PMID:34631954 12099025 ADCY5 adenylate cyclase 5 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:736882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:21055718|PMID:28492532|PMID:28602422 12099025 ADCY5 adenylate cyclase 5 gene DOID:9007924 Dyskinesia with Orofacial Involvement ISO RGD:736882 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskinesia, familial, with facial myokymia PMID:24700542|PMID:25741868|PMID:26085604|PMID:26537056|PMID:28492532|PMID:28511835|PMID:30772269 12099025 ADCY5 adenylate cyclase 5 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:736882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12099025 ADCY5 adenylate cyclase 5 gene DOID:9270 alkaptonuria ISO RGD:736882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12099025 ADCY5 adenylate cyclase 5 gene DOID:93 language disorder ISO RGD:736882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Language disorder 12099025 ADCY5 adenylate cyclase 5 gene DOID:9352 type 2 diabetes mellitus ISO RGD:71014 D RGD:9068941 20200609 RGD PMID:12607610|REF_RGD_ID:13464136 12099025 ADCY5 adenylate cyclase 5 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20081858|PMID:23202124 12099049 HIF3A hypoxia inducible factor 3 subunit alpha gene DOID:630 genetic disease ISO RGD:1605351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12099049 HIF3A hypoxia inducible factor 3 subunit alpha gene DOID:6432 pulmonary hypertension ISO RGD:70332 D RGD:9068941 20200609 RGD PMID:16215633|REF_RGD_ID:10395375 12099079 BPIFB4 BPI fold containing family B member 4 gene DOID:630 genetic disease ISO RGD:1344811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12099100 RSPRY1 ring finger and SPRY domain containing 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606482 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12099100 RSPRY1 ring finger and SPRY domain containing 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606482 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12099100 RSPRY1 ring finger and SPRY domain containing 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12099100 RSPRY1 ring finger and SPRY domain containing 1 gene DOID:630 genetic disease ISO RGD:1606482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12099100 RSPRY1 ring finger and SPRY domain containing 1 gene DOID:9007161 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type ISO RGD:1606482 D RGD:7240710 20180130 OMIM 12099100 RSPRY1 ring finger and SPRY domain containing 1 gene DOID:9007161 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type ISO RGD:1606482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type PMID:25741868|PMID:26365341 12099137 ANXA6 annexin A6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733718 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12099137 ANXA6 annexin A6 gene DOID:630 genetic disease ISO RGD:733718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12099137 ANXA6 annexin A6 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:733718 D RGD:9068941 20220616 RGD associated with tumor vascularization; protein:decreased expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 12099137 ANXA6 annexin A6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733718 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12099137 ANXA6 annexin A6 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12099137 ANXA6 annexin A6 gene DOID:9119 acute myeloid leukemia ISO RGD:733718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12099170 MIER1 MIER1 transcriptional regulator gene DOID:1059 intellectual disability ISO RGD:1605649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12099170 MIER1 MIER1 transcriptional regulator gene DOID:630 genetic disease ISO RGD:1605649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12099226 ABCD3 ATP binding cassette subfamily D member 3 gene DOID:0111066 congenital bile acid synthesis defect 5 ISO RGD:736620 D RGD:7240710 20180130 OMIM 12099226 ABCD3 ATP binding cassette subfamily D member 3 gene DOID:0111066 congenital bile acid synthesis defect 5 ISO RGD:736620 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 5 PMID:25168382|PMID:25741868|PMID:28492532 12099226 ABCD3 ATP binding cassette subfamily D member 3 gene DOID:630 genetic disease ISO RGD:736620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12099226 ABCD3 ATP binding cassette subfamily D member 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12099226 ABCD3 ATP binding cassette subfamily D member 3 gene DOID:905 Zellweger syndrome ISO RGD:736620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1301993 12099226 ABCD3 ATP binding cassette subfamily D member 3 gene DOID:905 Zellweger syndrome susceptibility ISO RGD:736620 D RGD:9068941 20200609 RGD PMID:1301993|REF_RGD_ID:1598658 12099256 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:0040084 Streptococcus pneumonia severity ISO RGD:1318854 D RGD:9068941 20200709 RGD PMID:22492852|REF_RGD_ID:35316076 12099256 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1318853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:28492532 12099256 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1318853 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:28492532 12099256 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:11476 osteoporosis ISO RGD:1318854 D RGD:9068941 20220825 MouseDO OMIM:166710 12099256 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:13272 Klebsiella pneumonia ISO RGD:1318854 D RGD:9068941 20200723 RGD mRNA:increased expression:lung (mouse) PMID:20864681|REF_RGD_ID:36049798 12099256 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:13272 Klebsiella pneumonia severity ISO RGD:1318854 D RGD:9068941 20200709 RGD PMID:22729155|REF_RGD_ID:35316077 12099256 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:2841 asthma ISO RGD:1318853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 5 PMID:17503328 12099256 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:2841 asthma susceptibility ISO RGD:1318853 D RGD:7240710 20190502 OMIM 12099256 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1318853 D RGD:9068941 20200723 RGD mRNA:increased expression:lung (human) PMID:21278795|REF_RGD_ID:36049796 12099256 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:399 tuberculosis ISO RGD:1318853 D RGD:9068941 20200723 RGD mRNA, protein:increased expression:sputum (human) PMID:19535630|REF_RGD_ID:36049800 12099256 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:5052 melioidosis ISO RGD:1318853 D RGD:9068941 20200723 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:19114913|REF_RGD_ID:36049801 12099256 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:630 genetic disease ISO RGD:1318853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12099256 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:874 bacterial pneumonia ISO RGD:1318854 D RGD:9068941 20200723 RGD PMID:20439918|PMID:28120642|REF_RGD_ID:34888234|REF_RGD_ID:36049799 12099256 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:9000109 Haemophilus Infections severity ISO RGD:1318854 D RGD:9068941 20200709 RGD PMID:25585690|REF_RGD_ID:11527046 12099256 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:9000684 Porcine Reproductive and Respiratory Syndrome ISO RGD:14200541 D RGD:9068941 20200723 RGD mRNA:increased expression:peripheral blood mononuclear cell (pig) PMID:26022073|REF_RGD_ID:36049793 12099256 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:9002786 Surgical Wound Infection ISO RGD:1318853 D RGD:9068941 20200709 RGD associated with colorectal cancer; mRNA:increased expression: plasma, leukocyte (human) PMID:28214365|REF_RGD_ID:34888232 12099256 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:9002827 Porcine Postweaning Multisystemic Wasting Syndrome ISO RGD:14200541 D RGD:9068941 20200723 RGD associated with Porcine Reproductive and Respiratory Syndrome; mRNA:decreased expression:peripheral blood mononuclear cell (pig) PMID:26022073|REF_RGD_ID:36049793 12099256 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:9002953 Escherichia Coli Infections treatment ISO RGD:14200541 D RGD:9068941 20200723 RGD PMID:27832756|REF_RGD_ID:34888235 12099256 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:9003690 Carcinoma, Lewis Lung ISO RGD:1318853 D RGD:9068941 20200723 RGD PMID:21278795|REF_RGD_ID:36049796 12099256 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:9004009 Reperfusion Injury ISO RGD:1318853 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25780291 12099256 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:9004610 Acute Lung Injury ISO RGD:1318854 D RGD:9068941 20200723 RGD mRNA, protein:increased expression:lung (mouse) PMID:21577093|REF_RGD_ID:36049795 12099256 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:9005930 Endotoxemia ISO RGD:1318853 D RGD:9068941 20200723 RGD mRNA, protein:increased expression:blood (human) PMID:17982103|REF_RGD_ID:36049802 12099256 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:9006493 Glandular and Epithelial Neoplasms ISO RGD:1318854 D RGD:9068941 20200709 RGD associated with ulcerative colitis;mRNA, protein:decreased expression:colon (mouse) PMID:28713897|REF_RGD_ID:34888231 12099256 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:9007417 Pseudomonas Infections severity ISO RGD:1318854 D RGD:9068941 20200723 RGD associated with Sepsis PMID:16917541|REF_RGD_ID:36049803 12099256 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:9008885 Staphylococcal Infections treatment ISO RGD:1318854 D RGD:9068941 20200709 RGD PMID:28954388|REF_RGD_ID:34888230 12099256 IRAK3 interleukin 1 receptor associated kinase 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1318854 D RGD:9068941 20220825 MouseDO OMIM:222100 12099272 ZDHHC21 zinc finger DHHC-type palmitoyltransferase 21 gene DOID:630 genetic disease ISO RGD:1313969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12099286 MTSS1 MTSS I-BAR domain containing 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1320467 D RGD:9068941 20220825 MouseDO OMIM:605027 12099286 MTSS1 MTSS I-BAR domain containing 1 gene DOID:0112079 nuclear type mitochondrial complex I deficiency 24 ISO RGD:1320466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 12099286 MTSS1 MTSS I-BAR domain containing 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1320466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12099286 MTSS1 MTSS I-BAR domain containing 1 gene DOID:630 genetic disease ISO RGD:1320466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12099286 MTSS1 MTSS I-BAR domain containing 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1320466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12099286 MTSS1 MTSS I-BAR domain containing 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1320466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12099323 ZNF572 zinc finger protein 572 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1353007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12099323 ZNF572 zinc finger protein 572 gene DOID:630 genetic disease ISO RGD:1353007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12099336 DYNC2I1 dynein 2 intermediate chain 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605671 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868|PMID:28492532|PMID:29068549 12099336 DYNC2I1 dynein 2 intermediate chain 1 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1605671 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 PMID:25741868|PMID:28492532|PMID:29068549 12099336 DYNC2I1 dynein 2 intermediate chain 1 gene DOID:0110094 short-rib thoracic dysplasia 8 with or without polydactyly ISO RGD:1605671 D RGD:7240710 20180130 OMIM 12099336 DYNC2I1 dynein 2 intermediate chain 1 gene DOID:0110094 short-rib thoracic dysplasia 8 with or without polydactyly ISO RGD:1605671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 8 with or without polydactyly PMID:17576681|PMID:23910462|PMID:24033266|PMID:25492405|PMID:25640679|PMID:25741868|PMID:28422394|PMID:28492532|PMID:29068549|PMID:30320547|PMID:9068549|PMID:9536098 12099336 DYNC2I1 dynein 2 intermediate chain 1 gene DOID:12849 autistic disorder ISO RGD:1605671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12099336 DYNC2I1 dynein 2 intermediate chain 1 gene DOID:5419 schizophrenia ISO RGD:1605671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12099336 DYNC2I1 dynein 2 intermediate chain 1 gene DOID:630 genetic disease ISO RGD:1605671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12099391 MAS1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:0060903 thrombosis ISO RGD:731461 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25339356 12099391 MAS1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:731461 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 12099391 MAS1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:10763 hypertension ISO RGD:3049 D RGD:9068941 20200609 RGD associated with Sleep Apnea Syndromes PMID:21040717|REF_RGD_ID:5129169 12099391 MAS1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:12236 primary biliary cholangitis ISO RGD:3049 D RGD:9068941 20200609 RGD PMID:17532087|REF_RGD_ID:9685452 12099391 MAS1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:12930 dilated cardiomyopathy treatment ISO RGD:3049 D RGD:9068941 20200609 RGD PMID:22120037|REF_RGD_ID:8549486 12099391 MAS1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:1686 glaucoma treatment ISO RGD:3049 D RGD:9068941 20200609 RGD PMID:23702784|REF_RGD_ID:9685447 12099391 MAS1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:6000 congestive heart failure ISO RGD:3049 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart PMID:21963897|REF_RGD_ID:8549482 12099391 MAS1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:630 genetic disease ISO RGD:731461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12099391 MAS1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3049 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:19793108|REF_RGD_ID:2316776 12099391 MAS1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3049 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (rat) PMID:18679036|REF_RGD_ID:2313799 12099396 TPRA1 transmembrane protein adipocyte associated 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1354338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12099396 TPRA1 transmembrane protein adipocyte associated 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1354338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 12099396 TPRA1 transmembrane protein adipocyte associated 1 gene DOID:9270 alkaptonuria ISO RGD:1354338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12099413 PPFIBP2 PPFIA binding protein 2 gene DOID:630 genetic disease ISO RGD:1316733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12099413 PPFIBP2 PPFIA binding protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26443449 12099413 PPFIBP2 PPFIA binding protein 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1316733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12099469 CRP C-reactive protein gene DOID:0014667 disease of metabolism ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19131468 12099469 CRP C-reactive protein gene DOID:0050117 disease by infectious agent ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3285537 12099469 CRP C-reactive protein gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:736633 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 12099469 CRP C-reactive protein gene DOID:0050452 mevalonic aciduria disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:7780142|REF_RGD_ID:9585642 12099469 CRP C-reactive protein gene DOID:0050589 inflammatory bowel disease ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:22483567|REF_RGD_ID:6482301 12099469 CRP C-reactive protein gene DOID:0050848 obstructive sleep apnea ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:21493247|REF_RGD_ID:5131290 12099469 CRP C-reactive protein gene DOID:0050855 renal fibrosis ISO RGD:10398 D RGD:9068941 20200609 RGD associated with ureteral obstruction PMID:21383672|REF_RGD_ID:6907431 12099469 CRP C-reactive protein gene DOID:0050855 renal fibrosis onset ISO RGD:736633 D RGD:9068941 20200609 RGD associated with ureteral obstruction PMID:21383672|REF_RGD_ID:6907431 12099469 CRP C-reactive protein gene DOID:0050864 non-arteritic anterior ischemic optic neuropathy ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:blood: PMID:15206651|REF_RGD_ID:9491785 12099469 CRP C-reactive protein gene DOID:0060001 withdrawal disorder ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12858318 12099469 CRP C-reactive protein gene DOID:0060224 atrial fibrillation disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:18811807|REF_RGD_ID:9491838 12099469 CRP C-reactive protein gene DOID:0060224 atrial fibrillation disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Idiopathic dilation cardiomyopathy;protein:increased expression:plasma: PMID:19645035|REF_RGD_ID:9491839 12099469 CRP C-reactive protein gene DOID:0060322 mastoiditis disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:22578647|REF_RGD_ID:9491592 12099469 CRP C-reactive protein gene DOID:0060903 thrombosis ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16931792 12099469 CRP C-reactive protein gene DOID:0070355 overactive bladder syndrome ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21284020|REF_RGD_ID:6907432 12099469 CRP C-reactive protein gene DOID:0080162 lupus nephritis ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:15692982|PMID:18852001|REF_RGD_ID:6907400|REF_RGD_ID:6909145 12099469 CRP C-reactive protein gene DOID:0080162 lupus nephritis no_association ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:20039408|REF_RGD_ID:6909146 12099469 CRP C-reactive protein gene DOID:0080600 COVID-19 ISO RGD:736633 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:32534021 12099469 CRP C-reactive protein gene DOID:0080600 COVID-19 disease_progression ISO RGD:736633 D RGD:9068941 20200618 RGD associated with diabetes mellitus PMID:32345579|REF_RGD_ID:30296681 12099469 CRP C-reactive protein gene DOID:0080600 COVID-19 severity ISO RGD:736633 D RGD:9068941 20200618 RGD PMID:32198776|REF_RGD_ID:30296673 12099469 CRP C-reactive protein gene DOID:0080600 COVID-19 severity ISO RGD:736633 D RGD:9068941 20200625 RGD associated with cardiovascular system disease;protein:increased expression:blood (human) PMID:32456948|REF_RGD_ID:30309957 12099469 CRP C-reactive protein gene DOID:0080600 COVID-19 severity ISO RGD:736633 D RGD:9068941 20200625 RGD associated with hyperglycemia;protein:increased expression:serum (human) PMID:32406594|REF_RGD_ID:32698682 12099469 CRP C-reactive protein gene DOID:0080600 COVID-19 severity ISO RGD:736633 D RGD:9068941 20200625 RGD protein:increased expression:blood (human) PMID:32181911|REF_RGD_ID:30310230 12099469 CRP C-reactive protein gene DOID:0080600 COVID-19 severity ISO RGD:736633 D RGD:9068941 20200625 RGD protein:increased expression:plasma (human) PMID:32417135|REF_RGD_ID:30310235 12099469 CRP C-reactive protein gene DOID:0080600 COVID-19 severity ISO RGD:736633 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32125452|PMID:32227274|PMID:32365221|PMID:32427582|PMID:32434211|REF_RGD_ID:27095965|REF_RGD_ID:27226695|REF_RGD_ID:30309200|REF_RGD_ID:30310229|REF_RGD_ID:30310238 12099469 CRP C-reactive protein gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:736633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12099469 CRP C-reactive protein gene DOID:1003 pelvic inflammatory disease ISO RGD:736633 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:21679133|REF_RGD_ID:38508897 12099469 CRP C-reactive protein gene DOID:104 bacterial infectious disease ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:23937512|REF_RGD_ID:9495911 12099469 CRP C-reactive protein gene DOID:1063 interstitial nephritis ISO RGD:10398 D RGD:9068941 20200609 RGD associated with ureteral obstruction PMID:21383672|REF_RGD_ID:6907431 12099469 CRP C-reactive protein gene DOID:1063 interstitial nephritis ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17014549 12099469 CRP C-reactive protein gene DOID:1063 interstitial nephritis onset ISO RGD:736633 D RGD:9068941 20200609 RGD associated with ureteral obstruction PMID:21383672|REF_RGD_ID:6907431 12099469 CRP C-reactive protein gene DOID:10652 Alzheimer's disease ISO RGD:10398 D RGD:9068941 20200609 RGD PMID:22202667|REF_RGD_ID:6904208 12099469 CRP C-reactive protein gene DOID:1073 renal hypertension ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22188107|REF_RGD_ID:6907405 12099469 CRP C-reactive protein gene DOID:1074 kidney failure severity ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell; protein:increased expression:serum PMID:20710104|REF_RGD_ID:6907441 12099469 CRP C-reactive protein gene DOID:10754 otitis media treatment ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:7724300|REF_RGD_ID:9491381 12099469 CRP C-reactive protein gene DOID:10763 hypertension ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19905982|REF_RGD_ID:5131461 12099469 CRP C-reactive protein gene DOID:10763 hypertension ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14620923|PMID:16680063|PMID:19770776|PMID:20667508 12099469 CRP C-reactive protein gene DOID:10763 hypertension ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:19056836|REF_RGD_ID:9586008 12099469 CRP C-reactive protein gene DOID:10763 hypertension ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:6720266|REF_RGD_ID:9491754 12099469 CRP C-reactive protein gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:17400294|REF_RGD_ID:9491775 12099469 CRP C-reactive protein gene DOID:10873 Kuhnt-Junius degeneration treatment ISO RGD:736633 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2808635,rs876538(human) PMID:19692124|REF_RGD_ID:9491756 12099469 CRP C-reactive protein gene DOID:114 heart disease ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17388968 12099469 CRP C-reactive protein gene DOID:114 heart disease ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:11857055|REF_RGD_ID:1580259 12099469 CRP C-reactive protein gene DOID:11400 pyelonephritis ISO RGD:2411 D RGD:9068941 20200609 RGD PMID:21797109|REF_RGD_ID:6482315 12099469 CRP C-reactive protein gene DOID:11561 hypertensive retinopathy ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:blood: PMID:21091359|REF_RGD_ID:9491786 12099469 CRP C-reactive protein gene DOID:1168 familial hyperlipidemia ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24308182|REF_RGD_ID:8695929 12099469 CRP C-reactive protein gene DOID:11758 iron deficiency anemia ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19730160|REF_RGD_ID:5131463 12099469 CRP C-reactive protein gene DOID:12365 malaria ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8730300 12099469 CRP C-reactive protein gene DOID:12466 secondary hyperparathyroidism ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21350317 12099469 CRP C-reactive protein gene DOID:12683 vestibular neuronitis disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:14636287|REF_RGD_ID:9491594 12099469 CRP C-reactive protein gene DOID:1287 cardiovascular system disease ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12876635|PMID:16332659|PMID:29114965 12099469 CRP C-reactive protein gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:20412290|REF_RGD_ID:9491755 12099469 CRP C-reactive protein gene DOID:12894 Sjogren's syndrome ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:16013223|REF_RGD_ID:9491835 12099469 CRP C-reactive protein gene DOID:12894 Sjogren's syndrome ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid;protein:increased expression:serum: PMID:2353152|REF_RGD_ID:9491774 12099469 CRP C-reactive protein gene DOID:13241 Behcet's disease ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:plasma,erythrocyte: PMID:12180795|REF_RGD_ID:9491757 12099469 CRP C-reactive protein gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:21426633|REF_RGD_ID:5131292 12099469 CRP C-reactive protein gene DOID:13375 temporal arteritis ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:blood: PMID:15206651|REF_RGD_ID:9491785 12099469 CRP C-reactive protein gene DOID:13378 Kawasaki disease susceptibility ISO RGD:736633 D RGD:9068941 20200609 RGD DNA:SNP: :1444 C-->T(human) PMID:18710885|REF_RGD_ID:9495921 12099469 CRP C-reactive protein gene DOID:13406 pulmonary sarcoidosis severity ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:21086905|REF_RGD_ID:5131289 12099469 CRP C-reactive protein gene DOID:13544 low tension glaucoma ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:16148587|REF_RGD_ID:9491770 12099469 CRP C-reactive protein gene DOID:13544 low tension glaucoma no_association ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:22966842|REF_RGD_ID:9491771 12099469 CRP C-reactive protein gene DOID:13564 aspergillosis treatment ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:20879853|REF_RGD_ID:9495929 12099469 CRP C-reactive protein gene DOID:13801 pharyngoconjunctival fever ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:17876605|REF_RGD_ID:9491593 12099469 CRP C-reactive protein gene DOID:13949 interstitial cystitis ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21284020|REF_RGD_ID:6907432 12099469 CRP C-reactive protein gene DOID:14018 alcoholic liver cirrhosis severity ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:22441510|REF_RGD_ID:6482305 12099469 CRP C-reactive protein gene DOID:14330 Parkinson's disease ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:22426659|REF_RGD_ID:6482307 12099469 CRP C-reactive protein gene DOID:1474 aggressive periodontitis ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:16013223|REF_RGD_ID:9491835 12099469 CRP C-reactive protein gene DOID:1540 parathyroid carcinoma ISO RGD:736633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12099469 CRP C-reactive protein gene DOID:1555 urticaria ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22348297|REF_RGD_ID:6482310 12099469 CRP C-reactive protein gene DOID:1596 depressive disorder ISO RGD:736633 D RGD:9068941 20200609 RGD associated with kidney failure, chronic; protein:increased expression:plasma PMID:22972567|REF_RGD_ID:6904211 12099469 CRP C-reactive protein gene DOID:1612 breast cancer ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:nipple aspirate fluid PMID:21139810|REF_RGD_ID:9491787 12099469 CRP C-reactive protein gene DOID:1727 retinal vein occlusion ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:6720266|REF_RGD_ID:9491754 12099469 CRP C-reactive protein gene DOID:1824 status epilepticus ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:23398413|REF_RGD_ID:9586015 12099469 CRP C-reactive protein gene DOID:1936 atherosclerosis ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16931792 12099469 CRP C-reactive protein gene DOID:1936 atherosclerosis disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:18535598|REF_RGD_ID:9491769 12099469 CRP C-reactive protein gene DOID:2030 anxiety disorder ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20194079 12099469 CRP C-reactive protein gene DOID:2030 anxiety disorder ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Coronary Disease; PMID:18603621|REF_RGD_ID:9491832 12099469 CRP C-reactive protein gene DOID:219 colon cancer ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:23008118|REF_RGD_ID:6903278 12099469 CRP C-reactive protein gene DOID:2841 asthma ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21140796|REF_RGD_ID:5131288 12099469 CRP C-reactive protein gene DOID:2942 bronchiolitis severity ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:21284715|REF_RGD_ID:5131282 12099469 CRP C-reactive protein gene DOID:2957 pulmonary tuberculosis ISO RGD:736633 D RGD:9068941 20200609 RGD associated with HIV Infections PMID:21197091|REF_RGD_ID:5131287 12099469 CRP C-reactive protein gene DOID:2957 pulmonary tuberculosis severity ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:21219690|REF_RGD_ID:5131284 12099469 CRP C-reactive protein gene DOID:2988 antiphospholipid syndrome ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:17014014|REF_RGD_ID:6907402 12099469 CRP C-reactive protein gene DOID:3021 acute kidney failure ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22551254|REF_RGD_ID:6903282 12099469 CRP C-reactive protein gene DOID:3021 acute kidney failure ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Myocardial Infarction; PMID:22694718|REF_RGD_ID:6906888 12099469 CRP C-reactive protein gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29329563 12099469 CRP C-reactive protein gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21506665|REF_RGD_ID:5131278 12099469 CRP C-reactive protein gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21468168|REF_RGD_ID:5131279 12099469 CRP C-reactive protein gene DOID:3393 coronary artery disease ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24868163 12099469 CRP C-reactive protein gene DOID:3393 coronary artery disease ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum PMID:19615354|REF_RGD_ID:2313344 12099469 CRP C-reactive protein gene DOID:3459 breast carcinoma severity ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:14648971|REF_RGD_ID:9585643 12099469 CRP C-reactive protein gene DOID:3525 middle cerebral artery infarction ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:15545914|REF_RGD_ID:9585995 12099469 CRP C-reactive protein gene DOID:403 mouth disease ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21625744|REF_RGD_ID:6482317 12099469 CRP C-reactive protein gene DOID:4448 macular degeneration ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:16225921|REF_RGD_ID:9491760 12099469 CRP C-reactive protein gene DOID:4448 macular degeneration susceptibility ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:20346514|REF_RGD_ID:9491758 12099469 CRP C-reactive protein gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:22958305|REF_RGD_ID:6904212 12099469 CRP C-reactive protein gene DOID:5082 liver cirrhosis ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;protein:decreased expression:serum PMID:21806828|REF_RGD_ID:9491781 12099469 CRP C-reactive protein gene DOID:526 human immunodeficiency virus infectious disease disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:22448211|REF_RGD_ID:6482303 12099469 CRP C-reactive protein gene DOID:552 pneumonia disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:21439658|REF_RGD_ID:5131291 12099469 CRP C-reactive protein gene DOID:552 pneumonia severity ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:21258955|REF_RGD_ID:5131283 12099469 CRP C-reactive protein gene DOID:5844 myocardial infarction ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21046814|REF_RGD_ID:5131456 12099469 CRP C-reactive protein gene DOID:5844 myocardial infarction ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:22446866|REF_RGD_ID:6482304 12099469 CRP C-reactive protein gene DOID:5844 myocardial infarction ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Angina, Unstable; PMID:9761079|REF_RGD_ID:9491780 12099469 CRP C-reactive protein gene DOID:6000 congestive heart failure ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16360360 12099469 CRP C-reactive protein gene DOID:6039 uveal melanoma disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:23057648|REF_RGD_ID:9491834 12099469 CRP C-reactive protein gene DOID:6088 acute stress disorder ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:19628221|REF_RGD_ID:9585647 12099469 CRP C-reactive protein gene DOID:630 genetic disease ISO RGD:736633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12099469 CRP C-reactive protein gene DOID:6432 pulmonary hypertension ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive PMID:22333502|REF_RGD_ID:6482312 12099469 CRP C-reactive protein gene DOID:6713 cerebrovascular disease ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29114965 12099469 CRP C-reactive protein gene DOID:676 juvenile rheumatoid arthritis ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22885951|REF_RGD_ID:6906884 12099469 CRP C-reactive protein gene DOID:684 hepatocellular carcinoma ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 12099469 CRP C-reactive protein gene DOID:7147 ankylosing spondylitis ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:6605119|REF_RGD_ID:9491788 12099469 CRP C-reactive protein gene DOID:7147 ankylosing spondylitis disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:22422197|REF_RGD_ID:6482308 12099469 CRP C-reactive protein gene DOID:7148 rheumatoid arthritis ISO RGD:2411 D RGD:9068941 20200609 RGD PMID:22173958|REF_RGD_ID:6904209 12099469 CRP C-reactive protein gene DOID:7148 rheumatoid arthritis ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1568518 12099469 CRP C-reactive protein gene DOID:7148 rheumatoid arthritis ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22173958|REF_RGD_ID:6904209 12099469 CRP C-reactive protein gene DOID:7693 abdominal aortic aneurysm ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:30004237|REF_RGD_ID:13782270 12099469 CRP C-reactive protein gene DOID:783 end stage renal disease ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19539174 12099469 CRP C-reactive protein gene DOID:783 end stage renal disease disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22865783|REF_RGD_ID:6906886 12099469 CRP C-reactive protein gene DOID:820 myocarditis ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20361910 12099469 CRP C-reactive protein gene DOID:824 periodontitis ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20011938 12099469 CRP C-reactive protein gene DOID:853 polymyalgia rheumatica treatment ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:2859021|REF_RGD_ID:9495925 12099469 CRP C-reactive protein gene DOID:8778 Crohn's disease ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11339241 12099469 CRP C-reactive protein gene DOID:8778 Crohn's disease severity ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22421709|REF_RGD_ID:6482309 12099469 CRP C-reactive protein gene DOID:8805 intermediate coronary syndrome disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:9761079|REF_RGD_ID:9491780 12099469 CRP C-reactive protein gene DOID:8893 psoriasis ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12559600 12099469 CRP C-reactive protein gene DOID:8893 psoriasis ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:22503884|REF_RGD_ID:6482313 12099469 CRP C-reactive protein gene DOID:8893 psoriasis treatment ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22754198|REF_RGD_ID:9495927 12099469 CRP C-reactive protein gene DOID:8947 diabetic retinopathy ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20012460 12099469 CRP C-reactive protein gene DOID:8947 diabetic retinopathy ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:20012460|REF_RGD_ID:8547537 12099469 CRP C-reactive protein gene DOID:9000039 Spinal Cord Injuries ISO RGD:2411 D RGD:9068941 20200609 RGD PMID:22404382|REF_RGD_ID:6903321 12099469 CRP C-reactive protein gene DOID:9000064 Cardiac Arrhythmias ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:blood: PMID:11739301|REF_RGD_ID:9495908 12099469 CRP C-reactive protein gene DOID:9000081 Lymphatic Metastasis susceptibility ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Breast Neoplasm; DNA:polymorphism: :1846C>T(rs1205)(human) PMID:24633920|REF_RGD_ID:9580226 12099469 CRP C-reactive protein gene DOID:9000998 Brain Injuries disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:24456846|REF_RGD_ID:9585646 12099469 CRP C-reactive protein gene DOID:9001488 Human Influenza ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21509252|REF_RGD_ID:5131277 12099469 CRP C-reactive protein gene DOID:9001542 Albuminuria ISO RGD:736633 D RGD:9068941 20200609 RGD associated with hypertension PMID:20016210|REF_RGD_ID:6909147 12099469 CRP C-reactive protein gene DOID:9001542 Albuminuria severity ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell; protein:increased expression:serum PMID:20710104|REF_RGD_ID:6907441 12099469 CRP C-reactive protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2411 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:21806828|REF_RGD_ID:9491781 12099469 CRP C-reactive protein gene DOID:9001686 Acute Coronary Syndrome ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15966572|PMID:23305094 12099469 CRP C-reactive protein gene DOID:9001686 Acute Coronary Syndrome ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:18973750|REF_RGD_ID:6907401 12099469 CRP C-reactive protein gene DOID:9001686 Acute Coronary Syndrome ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:21794939|REF_RGD_ID:9491837 12099469 CRP C-reactive protein gene DOID:9002106 Pneumococcal Pneumonia disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:21281676|REF_RGD_ID:5131293 12099469 CRP C-reactive protein gene DOID:9002165 Diabetic Nephropathies ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:urine PMID:22590912|REF_RGD_ID:6906967 12099469 CRP C-reactive protein gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:22885250|REF_RGD_ID:6906965 12099469 CRP C-reactive protein gene DOID:9002274 Renal Colic ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Urolithiasis; PMID:20206981|REF_RGD_ID:6909142 12099469 CRP C-reactive protein gene DOID:9002457 Experimental Arthritis ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19330884 12099469 CRP C-reactive protein gene DOID:9002669 Hypoxia ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Influenza PMID:21199168|REF_RGD_ID:5131285 12099469 CRP C-reactive protein gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:20220110|REF_RGD_ID:9585994 12099469 CRP C-reactive protein gene DOID:9004017 Chronic Hepatitis C ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:22333691|REF_RGD_ID:6482311 12099469 CRP C-reactive protein gene DOID:9004484 Sepsis ISO RGD:2411 D RGD:9068941 20200609 RGD PMID:21797109|REF_RGD_ID:6482315 12099469 CRP C-reactive protein gene DOID:9004484 Sepsis ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:blood: PMID:19060982|REF_RGD_ID:9491784 12099469 CRP C-reactive protein gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Lupus Nephritis; protein:increased expression:serum PMID:21076530|REF_RGD_ID:6907433 12099469 CRP C-reactive protein gene DOID:9005036 Bacteremia ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:18443549|REF_RGD_ID:9491402 12099469 CRP C-reactive protein gene DOID:9005171 Acute Uveitis ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:24697218|REF_RGD_ID:9491782 12099469 CRP C-reactive protein gene DOID:9005171 Acute Uveitis ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:11914210|REF_RGD_ID:9491833 12099469 CRP C-reactive protein gene DOID:9005172 Lung Neoplasms ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17114654 12099469 CRP C-reactive protein gene DOID:9005372 Inflammation ISO RGD:736633 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Inflammation 12099469 CRP C-reactive protein gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10398 D RGD:9068941 20200609 RGD PMID:21736794|REF_RGD_ID:6907422 12099469 CRP C-reactive protein gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2411 D RGD:9068941 20200609 RGD PMID:21736771|REF_RGD_ID:6482316 12099469 CRP C-reactive protein gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:736633 D RGD:9068941 20200609 RGD associated with coronary disease; PMID:23102387|REF_RGD_ID:6909166 12099469 CRP C-reactive protein gene DOID:9006404 Tubulointerstitial Nephritis and Uveitis disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:20813859|REF_RGD_ID:6907435 12099469 CRP C-reactive protein gene DOID:9006599 Hypertriglyceridemia ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11893366 12099469 CRP C-reactive protein gene DOID:9006646 Metabolic Syndrome ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16644639 12099469 CRP C-reactive protein gene DOID:9006646 Metabolic Syndrome ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:21357282|REF_RGD_ID:6482318 12099469 CRP C-reactive protein gene DOID:9006865 Fever of Unknown Origin ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:7506886|REF_RGD_ID:9491382 12099469 CRP C-reactive protein gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21806828|REF_RGD_ID:9491781 12099469 CRP C-reactive protein gene DOID:9007102 Myocardial Ischemia ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21122204|REF_RGD_ID:5128547 12099469 CRP C-reactive protein gene DOID:9007102 Myocardial Ischemia ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11840375 12099469 CRP C-reactive protein gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12099469 CRP C-reactive protein gene DOID:9007417 Pseudomonas Infections ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:19561148|REF_RGD_ID:5131464 12099469 CRP C-reactive protein gene DOID:9007417 Pseudomonas Infections ISO RGD:736633 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1; PMID:22864910|REF_RGD_ID:6906966 12099469 CRP C-reactive protein gene DOID:9007730 Burns ISO RGD:2411 D RGD:9068941 20200609 RGD PMID:20664819|REF_RGD_ID:5131457 12099469 CRP C-reactive protein gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:intestine: PMID:17981193|REF_RGD_ID:5129536 12099469 CRP C-reactive protein gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:736633 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 12099469 CRP C-reactive protein gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2411 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21122204|REF_RGD_ID:5128547 12099469 CRP C-reactive protein gene DOID:9007964 Arsenic Poisoning ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22521605 12099469 CRP C-reactive protein gene DOID:9008212 Diabetic Foot disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:blood: PMID:22712631|REF_RGD_ID:6906887 12099469 CRP C-reactive protein gene DOID:9008537 Polypoidal Choroidal Vasculopathy ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:17400294|REF_RGD_ID:9491775 12099469 CRP C-reactive protein gene DOID:9008652 Postoperative Atrial Fibrillation no_association ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:17383336|REF_RGD_ID:9495909 12099469 CRP C-reactive protein gene DOID:9008746 Pasteurellaceae Infections ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16755360 12099469 CRP C-reactive protein gene DOID:9065 leishmaniasis ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17218153 12099469 CRP C-reactive protein gene DOID:9074 systemic lupus erythematosus ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17718048 12099469 CRP C-reactive protein gene DOID:9074 systemic lupus erythematosus disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:17014014|REF_RGD_ID:6907402 12099469 CRP C-reactive protein gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:20039408|REF_RGD_ID:6909146 12099469 CRP C-reactive protein gene DOID:9074 systemic lupus erythematosus treatment ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:8261665|REF_RGD_ID:6909144 12099469 CRP C-reactive protein gene DOID:9146 visceral leishmaniasis ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10467834 12099469 CRP C-reactive protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12099469 CRP C-reactive protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:16764962|REF_RGD_ID:9491772 12099469 CRP C-reactive protein gene DOID:9463 otitis externa disease_progression ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:22032882|REF_RGD_ID:9491591 12099469 CRP C-reactive protein gene DOID:9470 bacterial meningitis ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:6122844|REF_RGD_ID:9491388 12099469 CRP C-reactive protein gene DOID:9471 meningitis ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14513990 12099469 CRP C-reactive protein gene DOID:9744 type 1 diabetes mellitus ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20012460 12099469 CRP C-reactive protein gene DOID:9744 type 1 diabetes mellitus ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:22864910|REF_RGD_ID:6906966 12099469 CRP C-reactive protein gene DOID:9744 type 1 diabetes mellitus ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:20012460|REF_RGD_ID:8547537 12099469 CRP C-reactive protein gene DOID:9970 obesity ISO RGD:736633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24042701 12099469 CRP C-reactive protein gene DOID:9970 obesity ISO RGD:736633 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20660932|REF_RGD_ID:5490970 12099469 CRP C-reactive protein gene DOID:9970 obesity disease_progression ISO RGD:2411 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25612518|REF_RGD_ID:15045599 12099475 NXPE4 neurexophilin and PC-esterase domain family member 4 gene DOID:1059 intellectual disability ISO RGD:1350536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12099475 NXPE4 neurexophilin and PC-esterase domain family member 4 gene DOID:630 genetic disease ISO RGD:1350536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12099475 NXPE4 neurexophilin and PC-esterase domain family member 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12099475 NXPE4 neurexophilin and PC-esterase domain family member 4 gene DOID:9007661 Dwarfism ISO RGD:1350536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12099510 CIAO3 cytosolic iron-sulfur assembly component 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1314335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12099510 CIAO3 cytosolic iron-sulfur assembly component 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1314335 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12099510 CIAO3 cytosolic iron-sulfur assembly component 3 gene DOID:1826 epilepsy ISO RGD:1314335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12099510 CIAO3 cytosolic iron-sulfur assembly component 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1314335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12099510 CIAO3 cytosolic iron-sulfur assembly component 3 gene DOID:630 genetic disease ISO RGD:1314335 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12099510 CIAO3 cytosolic iron-sulfur assembly component 3 gene DOID:9002189 High Myopia ISO RGD:1314335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12099529 MRPL41 mitochondrial ribosomal protein L41 gene DOID:0050777 Joubert syndrome ISO RGD:1321029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12099529 MRPL41 mitochondrial ribosomal protein L41 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1321029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12099529 MRPL41 mitochondrial ribosomal protein L41 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1321029 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12099529 MRPL41 mitochondrial ribosomal protein L41 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12099529 MRPL41 mitochondrial ribosomal protein L41 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1321029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12099529 MRPL41 mitochondrial ribosomal protein L41 gene DOID:0081097 Rafiq syndrome ISO RGD:1321029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12099529 MRPL41 mitochondrial ribosomal protein L41 gene DOID:1826 epilepsy ISO RGD:1321029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12099529 MRPL41 mitochondrial ribosomal protein L41 gene DOID:630 genetic disease ISO RGD:1321029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12099529 MRPL41 mitochondrial ribosomal protein L41 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1321029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12099534 VASH2 vasohibin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1602689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12099534 VASH2 vasohibin 2 gene DOID:630 genetic disease ISO RGD:1602689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12099534 VASH2 vasohibin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:0050700 cardiomyopathy ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy PMID:28492532 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:0050700 cardiomyopathy ISO RGD:1606823 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy PMID:25741868|PMID:28492532 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1606823 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1606823 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:0111996 immunodeficiency 51 ISO RGD:1606823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:1059 intellectual disability ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:1067 open-angle glaucoma ISO RGD:1606823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26752265 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1606823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:11372 megacolon ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:12583 velocardiofacial syndrome ISO RGD:1606823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:12849 autistic disorder ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:21247928|PMID:24601690|PMID:25741868|PMID:26300845|PMID:28074886|PMID:28166811|PMID:28416588|PMID:28492532|PMID:31712860|PMID:31983221|PMID:9536098 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:21247928|PMID:24601690|PMID:25741868|PMID:26300845|PMID:28074886|PMID:28416588|PMID:28492532|PMID:31712860|PMID:31983221|PMID:9536098 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606823 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:21247928|PMID:24601690|PMID:25741868|PMID:26300845|PMID:28074886|PMID:28416588|PMID:28492532|PMID:31712860|PMID:31983221|PMID:32257832|PMID:9536098 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:1826 epilepsy ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:2213 hemorrhagic disease ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:3070 high grade glioma ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:5419 schizophrenia ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:630 genetic disease ISO RGD:1606823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:9003871 Venous Thrombosis ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:61960 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex PMID:19128823|REF_RGD_ID:5685030 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61960 D RGD:9068941 20200609 RGD mRNA:altered expression:myocardium (rat) PMID:20571744|REF_RGD_ID:5133714 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:9007661 Dwarfism ISO RGD:1606823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1606823 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:9009066 Glucocorticoid Deficiency 5 ISO RGD:1606823 D RGD:7240710 20190315 OMIM 12099549 TXNRD2 thioredoxin reductase 2 gene DOID:9009066 Glucocorticoid Deficiency 5 ISO RGD:1606823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 5 PMID:16199547|PMID:21247928|PMID:24601690|PMID:25741868|PMID:26300845|PMID:28416588|PMID:28492532|PMID:31712860|PMID:31983221 12099582 BAG2 BAG cochaperone 2 gene DOID:0060234 Carpenter syndrome ISO RGD:1343744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome 12099582 BAG2 BAG cochaperone 2 gene DOID:630 genetic disease ISO RGD:1343744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12099582 BAG2 BAG cochaperone 2 gene DOID:9005101 Carpenter Syndrome 1 ISO RGD:1343744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 1 12099590 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:0050777 Joubert syndrome ISO RGD:1313498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12099590 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:0060071 pre-malignant neoplasm ISO RGD:1313498 D RGD:9068941 20200609 RGD PMID:12021784|REF_RGD_ID:1599171 12099590 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:11372 megacolon ISO RGD:1313498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12099590 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:1612 breast cancer ISO RGD:1313498 D RGD:7240710 20180711 OMIM 12099590 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:2394 ovarian cancer ISO RGD:1313498 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 12099590 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:3070 high grade glioma ISO RGD:1313498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24880341 12099590 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:630 genetic disease ISO RGD:1313498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:27479843|PMID:28135719|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918 12099590 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:9002777 Brain Stem Neoplasms ISO RGD:1313498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24880341 12099590 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12099590 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:9004839 INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD ISO RGD:1313498 D RGD:7240710 20190315 OMIM 12099590 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:9004839 INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD ISO RGD:1313498 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold PMID:23907125|PMID:24262437|PMID:25741868|PMID:28343630|PMID:28492532|PMID:28852847|PMID:29752822|PMID:29758562|PMID:30216591|PMID:30388424|PMID:30795918|PMID:31916397 12099590 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 12099590 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:9008939 Breast Neoplasms ISO RGD:1313498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12099590 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:9008952 Breast Cancer, Familial ISO RGD:1313498 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:23907125|PMID:24262437|PMID:25741868|PMID:28343630|PMID:28492532|PMID:28852847|PMID:29752822|PMID:30216591|PMID:30388424 12099600 FKBP1B FKBP prolyl isomerase 1B gene DOID:0050700 cardiomyopathy ISO RGD:61835 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19000375|REF_RGD_ID:2302065 12099600 FKBP1B FKBP prolyl isomerase 1B gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:62126 D RGD:9068941 20220825 MouseDO 12099600 FKBP1B FKBP prolyl isomerase 1B gene DOID:12361 Graves' disease ISO RGD:735951 D RGD:9068941 20200609 RGD PMID:15497458|REF_RGD_ID:1580387 12099600 FKBP1B FKBP prolyl isomerase 1B gene DOID:6000 congestive heart failure ISO RGD:61835 D RGD:9068941 20200609 RGD associated with Shock, Septic PMID:17637193|REF_RGD_ID:2302075 12099600 FKBP1B FKBP prolyl isomerase 1B gene DOID:630 genetic disease ISO RGD:735951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12099600 FKBP1B FKBP prolyl isomerase 1B gene DOID:9000064 Cardiac Arrhythmias ISO RGD:61835 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:18570278|REF_RGD_ID:2302073 12099600 FKBP1B FKBP prolyl isomerase 1B gene DOID:9000184 Ventricular Fibrillation ISO RGD:61835 D RGD:9068941 20200609 RGD associated with Myocardial Reperfusion Injury PMID:17506935|REF_RGD_ID:2302077 12099623 YPEL3 yippee like 3 gene DOID:0060019 coronin-1A deficiency ISO RGD:1347620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:28492532 12099623 YPEL3 yippee like 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1347620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12099623 YPEL3 yippee like 3 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1347620 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12099623 YPEL3 yippee like 3 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1347620 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12099623 YPEL3 yippee like 3 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1347620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12099623 YPEL3 yippee like 3 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1347620 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12099623 YPEL3 yippee like 3 gene DOID:12849 autistic disorder ISO RGD:1347620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12099623 YPEL3 yippee like 3 gene DOID:1882 atrial heart septal defect ISO RGD:1347620 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12099623 YPEL3 yippee like 3 gene DOID:5419 schizophrenia ISO RGD:1347620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12099623 YPEL3 yippee like 3 gene DOID:630 genetic disease ISO RGD:1347620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12099623 YPEL3 yippee like 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12099623 YPEL3 yippee like 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12099623 YPEL3 yippee like 3 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1347620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12099623 YPEL3 yippee like 3 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1347620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12099635 THAP8 THAP domain containing 8 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1343379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12099635 THAP8 THAP domain containing 8 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1343379 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12099635 THAP8 THAP domain containing 8 gene DOID:630 genetic disease ISO RGD:1343379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12099655 LYPD5 LY6/PLAUR domain containing 5 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1604488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12099655 LYPD5 LY6/PLAUR domain containing 5 gene DOID:5419 schizophrenia ISO RGD:1604488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12099655 LYPD5 LY6/PLAUR domain containing 5 gene DOID:630 genetic disease ISO RGD:1604488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12099681 MPP4 MAGUK p55 scaffold protein 4 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:733195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12099681 MPP4 MAGUK p55 scaffold protein 4 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:733195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12099681 MPP4 MAGUK p55 scaffold protein 4 gene DOID:0110983 Joubert syndrome 14 ISO RGD:733195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 14 PMID:11586298|PMID:22152675|PMID:24315819|PMID:28492532 12099681 MPP4 MAGUK p55 scaffold protein 4 gene DOID:630 genetic disease ISO RGD:733195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12099681 MPP4 MAGUK p55 scaffold protein 4 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:733195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12099681 MPP4 MAGUK p55 scaffold protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12099681 MPP4 MAGUK p55 scaffold protein 4 gene DOID:9005843 Hereditary Spastic Paralysis, Infantile Onset Ascending ISO RGD:733195 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis PMID:11586298|PMID:22152675|PMID:24315819|PMID:28492532 12099681 MPP4 MAGUK p55 scaffold protein 4 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:733195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12099681 MPP4 MAGUK p55 scaffold protein 4 gene DOID:9008086 Developmental Disabilities ISO RGD:733195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12099706 LIPA lipase A, lysosomal acid type gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:736562 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20557099 12099706 LIPA lipase A, lysosomal acid type gene DOID:0080217 lysosomal acid lipase deficiency ISO RGD:736562 D RGD:7240710 20180130 OMIM 12099706 LIPA lipase A, lysosomal acid type gene DOID:0080217 lysosomal acid lipase deficiency ISO RGD:736562 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acid lipase disease | ClinVar Annotator: match by term: Lysosomal acid lipase deficiency PMID:10562460|PMID:10627498|PMID:10746035|PMID:11441129|PMID:16199547|PMID:16255772|PMID:17576681|PMID:18775687|PMID:2129132|PMID:21291321|PMID:21757691|PMID:21963785|PMID:22138108|PMID:22227072|PMID:22795295|PMID:23424026|PMID:23430518|PMID:23485521|PMID:23583223|PMID:24033266|PMID:24048164|PMID:24072694|PMID:24792990|PMID:24832708|PMID:24993530|PMID:25525159|PMID:25620107|PMID:25624737|PMID:25722898|PMID:25741868|PMID:25852113|PMID:26225414|PMID:26252914|PMID:26350820|PMID:26913919|PMID:27423329|PMID:27624512|PMID:28220406|PMID:28374935|PMID:28492532|PMID:28502505|PMID:28502515|PMID:28881270|PMID:29196158|PMID:29958253|PMID:30270055|PMID:30684275|PMID:31113597|PMID:31131398|PMID:31180157|PMID:3118057|PMID:31182375|PMID:31230978|PMID:31392116|PMID:32041611|PMID:32382506|PMID:7499245|PMID:7751811|PMID:7759067|PMID:7773732|PMID:7833918|PMID:8146180|PMID:8254026|PMID:8598644|PMID:8617513|PMID:8864960|PMID:8894696|PMID:9367797|PMID:9536098|PMID:9554751|PMID:9633819|PMID:9684740|PMID:9925650 12099706 LIPA lipase A, lysosomal acid type gene DOID:0080600 COVID-19 ISO RGD:736562 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12099706 LIPA lipase A, lysosomal acid type gene DOID:14497 Wolman disease ISO RGD:736562 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:1056246|PMID:10562460|PMID:10627498|PMID:10746035|PMID:11441129|PMID:16199547|PMID:16255772|PMID:17576681|PMID:2129132|PMID:21291321|PMID:21757691|PMID:21963785|PMID:22138108|PMID:22227072|PMID:22795295|PMID:23424026|PMID:23430518|PMID:23485521|PMID:23583223|PMID:24048164|PMID:24072694|PMID:24792990|PMID:24832708|PMID:24993530|PMID:25620107|PMID:25624737|PMID:25722898|PMID:25741868|PMID:25852113|PMID:26225414|PMID:26252914|PMID:26350820|PMID:26913919|PMID:27423329|PMID:27624512|PMID:28220406|PMID:28374935|PMID:28492532|PMID:28502505|PMID:28502515|PMID:28881270|PMID:29196158|PMID:29958253|PMID:30249571|PMID:30270055|PMID:30665623|PMID:30684275|PMID:31113597|PMID:31131398|PMID:31180157|PMID:3118057|PMID:31182375|PMID:31230978|PMID:31392116|PMID:31412917|PMID:32041611|PMID:32382506|PMID:7499245|PMID:7751811|PMID:7759067|PMID:7773732|PMID:7833918|PMID:8146180|PMID:8254026|PMID:8598644|PMID:8617513|PMID:8894696|PMID:8956047|PMID:9367797|PMID:9536098|PMID:9554751|PMID:9633819|PMID:9684740|PMID:9925650 12099706 LIPA lipase A, lysosomal acid type gene DOID:14502 cholesterol ester storage disease ISO RGD:736562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cholesteryl ester storage disease PMID:10562460|PMID:16255772|PMID:17576681|PMID:21757691|PMID:22227072|PMID:22795295|PMID:23424026|PMID:23485521|PMID:24072694|PMID:25722898|PMID:25741868|PMID:25852113|PMID:26225414|PMID:26252914|PMID:26350820|PMID:28492532|PMID:28502505|PMID:28502515|PMID:28881270|PMID:29958253|PMID:30684275|PMID:31182375|PMID:31230978|PMID:31392116|PMID:7499245|PMID:7751811|PMID:7759067|PMID:8146180|PMID:8254026|PMID:8598644|PMID:8617513|PMID:9536098|PMID:9684740 12099706 LIPA lipase A, lysosomal acid type gene DOID:3393 coronary artery disease ISO RGD:736562 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:21378988|PMID:34961328|PMID:35590109 12099706 LIPA lipase A, lysosomal acid type gene DOID:630 genetic disease ISO RGD:736562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12099706 LIPA lipase A, lysosomal acid type gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:736562 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 12099706 LIPA lipase A, lysosomal acid type gene DOID:9000784 Fibrosis ISO RGD:736562 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:35679793 12099706 LIPA lipase A, lysosomal acid type gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:736562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:28492532 12099727 COPS4 COP9 signalosome subunit 4 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1345570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 12099727 COPS4 COP9 signalosome subunit 4 gene DOID:630 genetic disease ISO RGD:1345570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12099745 FAM3D FAM3 metabolism regulating signaling molecule D gene DOID:5419 schizophrenia ISO RGD:1313583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12099745 FAM3D FAM3 metabolism regulating signaling molecule D gene DOID:630 genetic disease ISO RGD:1313583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12099891 MTAP methylthioadenosine phosphorylase gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1320830 D RGD:9068941 20200609 RGD PMID:16373701|REF_RGD_ID:2317953 12099891 MTAP methylthioadenosine phosphorylase gene DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma ISO RGD:1320830 D RGD:7240710 20180130 OMIM 12099891 MTAP methylthioadenosine phosphorylase gene DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma ISO RGD:1320830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone dysplasia with malignant fibrous histiocytoma | ClinVar Annotator: match by term: Bone dysplasia with medullary fibrosarcoma | ClinVar Annotator: match by term: Diaphyseal medullary stenosis with malignant fibrous histiocytoma | ClinVar Annotator: match by term: MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY PMID:13511301|PMID:16244874|PMID:16419137|PMID:22464254|PMID:25741868|PMID:28492532|PMID:3745248|PMID:4713573|PMID:8781110 12099891 MTAP methylthioadenosine phosphorylase gene DOID:1793 pancreatic cancer ISO RGD:1320830 D RGD:9068941 20200609 RGD DNA, protein:deletion, decreased activity:pancreas: PMID:15534104|REF_RGD_ID:2317952 12099891 MTAP methylthioadenosine phosphorylase gene DOID:1909 melanoma ISO RGD:1320830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578364 12099891 MTAP methylthioadenosine phosphorylase gene DOID:4608 common bile duct neoplasm ISO RGD:1320830 D RGD:9068941 20200609 RGD DNA, protein:deletion, decreased expression:common bile duct: PMID:15662124|REF_RGD_ID:2317954 12099891 MTAP methylthioadenosine phosphorylase gene DOID:5419 schizophrenia ISO RGD:1320830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12099891 MTAP methylthioadenosine phosphorylase gene DOID:630 genetic disease ISO RGD:1320830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12099891 MTAP methylthioadenosine phosphorylase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 12099891 MTAP methylthioadenosine phosphorylase gene DOID:9002969 Nevus ISO RGD:1320830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578365 12099906 SEPTIN14 septin 14 gene DOID:12849 autistic disorder ISO RGD:1602813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12099906 SEPTIN14 septin 14 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1602813 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:rs10241628, rs11981883, rs77231105 (human) PMID:27115672|REF_RGD_ID:13504669 12099906 SEPTIN14 septin 14 gene DOID:3068 glioblastoma ISO RGD:1602813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23917401 12099906 SEPTIN14 septin 14 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12099906 SEPTIN14 septin 14 gene DOID:630 genetic disease ISO RGD:1602813 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12099934 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1347509 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung myofibroblast: PMID:22582174|REF_RGD_ID:11341695 12099934 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:0050908 myelodysplastic syndrome ISO RGD:1347509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16105982 12099934 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:0050908 myelodysplastic syndrome ISO RGD:1347509 D RGD:9068941 20200609 RGD PMID:14562111|REF_RGD_ID:11341680 12099934 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma ISO RGD:1347509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15924153 12099934 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1347509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12099934 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1347509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12099934 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:1240 leukemia ISO RGD:1347509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12970779 12099934 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:1793 pancreatic cancer ISO RGD:1347509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20876774 12099934 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:3770 pulmonary fibrosis ISO RGD:731977 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung myofibroblast: PMID:22582174|REF_RGD_ID:11341695 12099934 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:6000 congestive heart failure ISO RGD:1347509 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cardiomyocyte: PMID:11033112|REF_RGD_ID:11341730 12099934 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:630 genetic disease ISO RGD:1347509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12099934 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:8567 Hodgkin's lymphoma ISO RGD:1347509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659339 12099934 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:1347509 D RGD:9068941 20200609 RGD protein:decreased expression:endothelial cell,macrophage: PMID:10623660|REF_RGD_ID:11341688 12099934 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1347509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12099934 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12099934 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:9006182 Carotid Artery Injuries disease_progression ISO RGD:620847 D RGD:9068941 20200609 RGD PMID:10623660|REF_RGD_ID:11341688 12099934 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1347509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12099934 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:9007480 Hyperoxia ISO RGD:620847 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:19107989|REF_RGD_ID:8662854 12099934 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:620847 D RGD:9068941 20200609 RGD PMID:18466417|REF_RGD_ID:11341714 12099934 CFLAR CASP8 and FADD like apoptosis regulator gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1347509 D RGD:9068941 20200609 RGD PMID:23167276|REF_RGD_ID:11341679 12099973 AMER1 APC membrane recruitment protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12099973 AMER1 APC membrane recruitment protein 1 gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1606716 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:25741868 12099973 AMER1 APC membrane recruitment protein 1 gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1606716 D RGD:7240710 20180130 OMIM 12099973 AMER1 APC membrane recruitment protein 1 gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1606716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:20950377|PMID:22043478|PMID:22716240|PMID:24033266|PMID:24728327|PMID:25741868|PMID:27369646|PMID:28492532|PMID:8723089|PMID:9327263|PMID:9383023 12099973 AMER1 APC membrane recruitment protein 1 gene DOID:0080215 developmental and epileptic encephalopathy 8 ISO RGD:1606716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 PMID:28492532 12099973 AMER1 APC membrane recruitment protein 1 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:1606716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked PMID:26242992|PMID:28492532 12099973 AMER1 APC membrane recruitment protein 1 gene DOID:12849 autistic disorder ISO RGD:1606716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12099973 AMER1 APC membrane recruitment protein 1 gene DOID:2154 nephroblastoma ISO RGD:1606716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 12099973 AMER1 APC membrane recruitment protein 1 gene DOID:630 genetic disease ISO RGD:1606716 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19079258|PMID:20209645|PMID:24728327|PMID:25741868|PMID:28492532 12099973 AMER1 APC membrane recruitment protein 1 gene DOID:674 cleft palate ISO RGD:1606716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:25741868 12099973 AMER1 APC membrane recruitment protein 1 gene DOID:9008945 Gram-Negative Bacterial Infections ISO RGD:1606716 D RGD:9068941 20220317 RGD associated with colorectal cancer;DNA:mutation:multiple (human) PMID:30062471|REF_RGD_ID:151665182 12099973 AMER1 APC membrane recruitment protein 1 gene DOID:9256 colorectal cancer ISO RGD:1606716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 12099973 AMER1 APC membrane recruitment protein 1 gene DOID:9256 colorectal cancer ISO RGD:1606716 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:34549727|PMID:34771502 12099973 AMER1 APC membrane recruitment protein 1 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1606716 D RGD:9068941 20220317 RGD protein:decreased expression:colonic mucosa (human) PMID:30631060|REF_RGD_ID:151665181 12099973 AMER1 APC membrane recruitment protein 1 gene DOID:9256 colorectal cancer onset ISO RGD:1606716 D RGD:9068941 20220317 RGD DNA:mutations: (human) PMID:31243121|REF_RGD_ID:151665183 12099979 PINK1 PTEN induced kinase 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1314001 D RGD:7240710 20180130 OMIM 12099979 PINK1 PTEN induced kinase 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1314001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 | ClinVar Annotator: match by term: PINK1-Related Parkinsonism | ClinVar Annotator: match by term: Parkinson disease 6 | ClinVar Annotator: match by term: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 PMID:15087508|PMID:15349860|PMID:15349870|PMID:15349871|PMID:15584030|PMID:15596610|PMID:15824318|PMID:15955953|PMID:15970950|PMID:16009891|PMID:16199547|PMID:16207217|PMID:16207731|PMID:16257123|PMID:16401616|PMID:16482571|PMID:16547921|PMID:16632486|PMID:16702191|PMID:16755580|PMID:16769864|PMID:16805805|PMID:16966503|PMID:16969854|PMID:17030667|PMID:17055324|PMID:17172567|PMID:17576681|PMID:17579517|PMID:17960343|PMID:18003639|PMID:18286320|PMID:18330912|PMID:18359116|PMID:18403612|PMID:18486522|PMID:18524835|PMID:18541801|PMID:18546294|PMID:18685134|PMID:18704525|PMID:18785233|PMID:19087301|PMID:19229105|PMID:19242547|PMID:19351622|PMID:19847793|PMID:19880420|PMID:19889566|PMID:19890973|PMID:20126261|PMID:20356854|PMID:20506312|PMID:20547144|PMID:20558144|PMID:20798600|PMID:20981092|PMID:21412950|PMID:21488273|PMID:21534944|PMID:21925922|PMID:21996382|PMID:22118943|PMID:22238344|PMID:22243833|PMID:22445250|PMID:22451330|PMID:22644621|PMID:22764206|PMID:22956510|PMID:23063710|PMID:23303188|PMID:23334666|PMID:2345993|PMID:23459931|PMID:23880019|PMID:23986421|PMID:24033266|PMID:24167364|PMID:24374372|PMID:24660942|PMID:24677602|PMID:25466404|PMID:25558820|PMID:25741868|PMID:26274610|PMID:26467025|PMID:27094865|PMID:27574110|PMID:27884173|PMID:28492532|PMID:28502045|PMID:28849312|PMID:29091718|PMID:29255601|PMID:29655942|PMID:30502028|PMID:31217084|PMID:32446772|PMID:32713623|PMID:32861104|PMID:32870915|PMID:33845304|PMID:34148545|PMID:9536098 12099979 PINK1 PTEN induced kinase 1 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1314001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset 12099979 PINK1 PTEN induced kinase 1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1314001 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12099979 PINK1 PTEN induced kinase 1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1314001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:25741868|PMID:28492532 12099979 PINK1 PTEN induced kinase 1 gene DOID:0080855 Parkinsonism ISO RGD:1305769 D RGD:9068941 20200609 RGD PMID:24969022|REF_RGD_ID:13210569 12099979 PINK1 PTEN induced kinase 1 gene DOID:0080855 Parkinsonism ISO RGD:1314001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11254447|PMID:15349871|PMID:23046578|PMID:24441527|PMID:24792327|PMID:26558463 12099979 PINK1 PTEN induced kinase 1 gene DOID:1024 leprosy ISO RGD:1314001 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 12099979 PINK1 PTEN induced kinase 1 gene DOID:14330 Parkinson's disease ISO RGD:1314001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Recessive PMID:25741868|PMID:28492532 12099979 PINK1 PTEN induced kinase 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1314001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 12099979 PINK1 PTEN induced kinase 1 gene DOID:630 genetic disease ISO RGD:1314001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12099979 PINK1 PTEN induced kinase 1 gene DOID:769 neuroblastoma ISO RGD:1314001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334666 12099979 PINK1 PTEN induced kinase 1 gene DOID:9002955 Nerve Degeneration ISO RGD:1314001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24161480 12099979 PINK1 PTEN induced kinase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1314001 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35312153 12099979 PINK1 PTEN induced kinase 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1314001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12099995 C2 complement C2 gene DOID:0050553 JMP syndrome ISO RGD:1353499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12099995 C2 complement C2 gene DOID:0060295 complement component 2 deficiency ISO RGD:1353499 D RGD:7240710 20180130 OMIM 12099995 C2 complement C2 gene DOID:0060295 complement component 2 deficiency ISO RGD:1353499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: C2 deficiency | ClinVar Annotator: match by term: C2 deficiency, type II | ClinVar Annotator: match by term: Complement component 2 deficiency PMID:1542325|PMID:1577763|PMID:16518403|PMID:16936732|PMID:17576681|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532|PMID:31440263|PMID:31980526|PMID:32113979|PMID:33726816|PMID:34426522|PMID:34899688|PMID:6308626|PMID:8181962|PMID:8621452|PMID:9536098|PMID:9616367|PMID:9670930 12099995 C2 complement C2 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:16518403|PMID:16936732|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962 12099995 C2 complement C2 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:1577763|PMID:16199547|PMID:16518403|PMID:16936732|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962|PMID:9616367 12099995 C2 complement C2 gene DOID:0080600 COVID-19 ISO RGD:1353499 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12099995 C2 complement C2 gene DOID:0110026 age related macular degeneration 14 ISO RGD:1353499 D RGD:7240710 20180130 OMIM 12099995 C2 complement C2 gene DOID:0110026 age related macular degeneration 14 ISO RGD:1353499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 14 PMID:16518403|PMID:16936732|PMID:17576681|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532|PMID:32113979|PMID:34899688|PMID:6308626|PMID:8181962|PMID:9536098|PMID:9670930 12099995 C2 complement C2 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1353499 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:16518403|PMID:16936732|PMID:18806293|PMID:21541267|PMID:2249879|PMID:24033266|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962 12099995 C2 complement C2 gene DOID:10223 dermatomyositis ISO RGD:1353499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3501473 12099995 C2 complement C2 gene DOID:10652 Alzheimer's disease ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :p.E318D (rs9332739) (human) PMID:22300950|REF_RGD_ID:7401250 12099995 C2 complement C2 gene DOID:10754 otitis media ISO RGD:10255 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections PMID:20065024|REF_RGD_ID:7411716 12099995 C2 complement C2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1353499 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:16518403|PMID:16936732|PMID:18806293|PMID:21541267|PMID:2249879|PMID:24033266|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962 12099995 C2 complement C2 gene DOID:1407 anterior uveitis no_association ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:SNP: :rs3020644 (human) PMID:22714898|REF_RGD_ID:7411695 12099995 C2 complement C2 gene DOID:2772 irritant dermatitis ISO RGD:1353499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 12099995 C2 complement C2 gene DOID:2986 IgA glomerulonephritis ISO RGD:1353499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 12099995 C2 complement C2 gene DOID:4448 macular degeneration ISO RGD:1353499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:1577763|PMID:16199547|PMID:16518403|PMID:16936732|PMID:17576681|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962|PMID:9536098|PMID:9616367 12099995 C2 complement C2 gene DOID:4448 macular degeneration no_association ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:missense mutation, snp:cds, intron:p.E318D, c.1360+62G>T (rs9332739, rs547154) (human) PMID:22273503|REF_RGD_ID:7411731 12099995 C2 complement C2 gene DOID:4448 macular degeneration no_association ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E318D (rs9332739) (human) PMID:19169232|PMID:23112567|REF_RGD_ID:7411691|REF_RGD_ID:7411693 12099995 C2 complement C2 gene DOID:4448 macular degeneration susceptibility ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron:c.1360+62G>T (rs547154) (human) PMID:18806293|REF_RGD_ID:7411713 12099995 C2 complement C2 gene DOID:4448 macular degeneration susceptibility ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:SNP:intron:c.1360+62G>T (rs547154) (human) PMID:22232432|REF_RGD_ID:7411694 12099995 C2 complement C2 gene DOID:4448 macular degeneration susceptibility ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype:cds:p.E318D (rs9332739) (human) PMID:23233260|REF_RGD_ID:7411720 12099995 C2 complement C2 gene DOID:4448 macular degeneration susceptibility ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16518403|REF_RGD_ID:1600582 12099995 C2 complement C2 gene DOID:557 kidney disease ISO RGD:1353499 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 12099995 C2 complement C2 gene DOID:630 genetic disease ISO RGD:1353499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12099995 C2 complement C2 gene DOID:8893 psoriasis ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:polymorphism: :C2*2 (human) PMID:6559061|REF_RGD_ID:7411727 12099995 C2 complement C2 gene DOID:9005169 Complement Factor B Deficiency ISO RGD:1353499 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Complement factor b deficiency PMID:16518403|PMID:16936732|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532 12099995 C2 complement C2 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:2231 D RGD:9068941 20201211 RGD DNA:SNP:exon: p.Glu318Asp (human) PMID:22610944|REF_RGD_ID:40886317 12099995 C2 complement C2 gene DOID:9008537 Polypoidal Choroidal Vasculopathy susceptibility ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:SNP:intron:c.1360+62G>T (rs547154) (human) PMID:22232432|REF_RGD_ID:7411694 12099995 C2 complement C2 gene DOID:9074 systemic lupus erythematosus ISO RGD:1353499 D RGD:9068941 20200609 RGD PMID:6409476|REF_RGD_ID:7421516 12100017 DDX60 DExD/H-box helicase 60 gene DOID:10283 prostate cancer ISO RGD:1604355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12100017 DDX60 DExD/H-box helicase 60 gene DOID:630 genetic disease ISO RGD:1604355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100017 DDX60 DExD/H-box helicase 60 gene DOID:9001488 Human Influenza ISO RGD:1604355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12100063 MGAM maltase-glucoamylase gene DOID:0080690 RASopathy ISO RGD:1318097 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12100063 MGAM maltase-glucoamylase gene DOID:630 genetic disease ISO RGD:1318097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100063 MGAM maltase-glucoamylase gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1318097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 12100173 ANXA1 annexin A1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:730873 D RGD:9068941 20200609 RGD protein:decreased expression:mammary gland PMID:22323911|REF_RGD_ID:7421537 12100173 ANXA1 annexin A1 gene DOID:0060180 colitis ISO RGD:2118 D RGD:9068941 20200609 RGD protein:increased expression:colon, neutrophil PMID:10489933|REF_RGD_ID:2306920 12100173 ANXA1 annexin A1 gene DOID:0080600 COVID-19 ISO RGD:730873 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12100173 ANXA1 annexin A1 gene DOID:10140 dry eye syndrome ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:23201116|REF_RGD_ID:7421553 12100173 ANXA1 annexin A1 gene DOID:10247 pleurisy ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:15784654|REF_RGD_ID:2306907 12100173 ANXA1 annexin A1 gene DOID:10534 stomach cancer ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:23236538|REF_RGD_ID:7421587 12100173 ANXA1 annexin A1 gene DOID:10763 hypertension ISO RGD:2118 D RGD:9068941 20200609 RGD protein:altered localization:vascular associated smooth muscle cell PMID:16109804|REF_RGD_ID:1599668 12100173 ANXA1 annexin A1 gene DOID:10763 hypertension ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 12100173 ANXA1 annexin A1 gene DOID:12849 autistic disorder ISO RGD:730873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12100173 ANXA1 annexin A1 gene DOID:13141 uveitis ISO RGD:10164 D RGD:9068941 20200609 RGD PMID:23645879|REF_RGD_ID:7421538 12100173 ANXA1 annexin A1 gene DOID:13141 uveitis ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:21633711|REF_RGD_ID:7421539 12100173 ANXA1 annexin A1 gene DOID:13141 uveitis treatment ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:23645879|REF_RGD_ID:7421538 12100173 ANXA1 annexin A1 gene DOID:1350 paranasal sinus benign neoplasm ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:20970165|REF_RGD_ID:7421559 12100173 ANXA1 annexin A1 gene DOID:1459 hypothyroidism ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:9022675|REF_RGD_ID:2306952 12100173 ANXA1 annexin A1 gene DOID:1749 squamous cell carcinoma ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12100173 ANXA1 annexin A1 gene DOID:1749 squamous cell carcinoma ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:8919037|REF_RGD_ID:7421562 12100173 ANXA1 annexin A1 gene DOID:1793 pancreatic cancer ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:19173988|REF_RGD_ID:2325722 12100173 ANXA1 annexin A1 gene DOID:1793 pancreatic cancer ISO RGD:730873 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:17974280|REF_RGD_ID:2325723 12100173 ANXA1 annexin A1 gene DOID:2316 brain ischemia ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:1830327|REF_RGD_ID:7421662 12100173 ANXA1 annexin A1 gene DOID:2316 brain ischemia treatment ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:1830327|REF_RGD_ID:7421662 12100173 ANXA1 annexin A1 gene DOID:2671 transitional cell carcinoma severity ISO RGD:2118 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder PMID:17994624|REF_RGD_ID:2306889 12100173 ANXA1 annexin A1 gene DOID:2734 keratosis follicularis ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:8919037|REF_RGD_ID:7421562 12100173 ANXA1 annexin A1 gene DOID:2773 contact dermatitis ISO RGD:10164 D RGD:9068941 20200609 RGD PMID:23267026|REF_RGD_ID:7421573 12100173 ANXA1 annexin A1 gene DOID:2841 asthma ISO RGD:10164 D RGD:9068941 20200609 RGD PMID:22092555|REF_RGD_ID:7421657 12100173 ANXA1 annexin A1 gene DOID:3008 invasive ductal carcinoma ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:18776816|REF_RGD_ID:7421535 12100173 ANXA1 annexin A1 gene DOID:3008 invasive ductal carcinoma treatment ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:19171478|REF_RGD_ID:7421560 12100173 ANXA1 annexin A1 gene DOID:3021 acute kidney failure treatment ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:22101490|REF_RGD_ID:7421583 12100173 ANXA1 annexin A1 gene DOID:305 carcinoma ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 12100173 ANXA1 annexin A1 gene DOID:3069 malignant astrocytoma ISO RGD:730873 D RGD:9068941 20200609 RGD associated with Tuberous Sclerosis;mRNA:increased expression:brain PMID:20133820|REF_RGD_ID:7421564 12100173 ANXA1 annexin A1 gene DOID:326 ischemia ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:17653046|REF_RGD_ID:2306896 12100173 ANXA1 annexin A1 gene DOID:3526 cerebral infarction treatment ISO RGD:2118 D RGD:9068941 20200609 RGD associated with Ischemic Attack, Transient PMID:22617647|REF_RGD_ID:7483559 12100173 ANXA1 annexin A1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12100173 ANXA1 annexin A1 gene DOID:3770 pulmonary fibrosis ISO RGD:2118 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:9269316|REF_RGD_ID:2306948 12100173 ANXA1 annexin A1 gene DOID:3910 lung adenocarcinoma ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 12100173 ANXA1 annexin A1 gene DOID:4450 renal cell carcinoma ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:14587099|REF_RGD_ID:7421570 12100173 ANXA1 annexin A1 gene DOID:557 kidney disease ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20484890 12100173 ANXA1 annexin A1 gene DOID:630 genetic disease ISO RGD:730873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100173 ANXA1 annexin A1 gene DOID:6498 seborrheic keratosis ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:8919037|REF_RGD_ID:7421562 12100173 ANXA1 annexin A1 gene DOID:76 stomach disease ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15472012 12100173 ANXA1 annexin A1 gene DOID:7998 hyperthyroidism ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:9022675|REF_RGD_ID:2306952 12100173 ANXA1 annexin A1 gene DOID:83 cataract ISO RGD:10164 D RGD:9068941 20200609 RGD DNA, protein:polymorphism: :p.R212I (mouse) PMID:19003866|REF_RGD_ID:7421556 12100173 ANXA1 annexin A1 gene DOID:83 cataract ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:1385581|REF_RGD_ID:7421566 12100173 ANXA1 annexin A1 gene DOID:8893 psoriasis ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:8919037|REF_RGD_ID:7421562 12100173 ANXA1 annexin A1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2118 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:neuron,glial cell PMID:15248295|REF_RGD_ID:10053688 12100173 ANXA1 annexin A1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:17917587|REF_RGD_ID:2306891 12100173 ANXA1 annexin A1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 12100173 ANXA1 annexin A1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942|PMID:22248470 12100173 ANXA1 annexin A1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:10164 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:20308542|PMID:20821804|REF_RGD_ID:7421541|REF_RGD_ID:7421563 12100173 ANXA1 annexin A1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:2118 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:20308542|REF_RGD_ID:7421563 12100173 ANXA1 annexin A1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:2118 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental;protein:increased expression:lung PMID:9514092|REF_RGD_ID:2306939 12100173 ANXA1 annexin A1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20308542 12100173 ANXA1 annexin A1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:730873 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:20821804|REF_RGD_ID:7421541 12100173 ANXA1 annexin A1 gene DOID:9001472 Nasal Polyps ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:20549082|REF_RGD_ID:7421567 12100173 ANXA1 annexin A1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2118 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:8755646|REF_RGD_ID:2306954 12100173 ANXA1 annexin A1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12100173 ANXA1 annexin A1 gene DOID:9002211 Hyperalgesia ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:9222544|REF_RGD_ID:2306950 12100173 ANXA1 annexin A1 gene DOID:9002211 Hyperalgesia ISO RGD:2118 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion PMID:21990306|REF_RGD_ID:7421656 12100173 ANXA1 annexin A1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 12100173 ANXA1 annexin A1 gene DOID:9002457 Experimental Arthritis ISO RGD:10164 D RGD:9068941 20200609 RGD PMID:23267026|REF_RGD_ID:7421573 12100173 ANXA1 annexin A1 gene DOID:9002457 Experimental Arthritis ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:10403283|REF_RGD_ID:2306928 12100173 ANXA1 annexin A1 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:10164 D RGD:9068941 20200609 RGD PMID:23267026|REF_RGD_ID:7421573 12100173 ANXA1 annexin A1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:2118 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:16034371|REF_RGD_ID:2306905 12100173 ANXA1 annexin A1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2118 D RGD:9068941 20200609 RGD protein:increased expression:brain, astrocyte, macrophage PMID:9472682|REF_RGD_ID:2306942 12100173 ANXA1 annexin A1 gene DOID:9004464 Skin Neoplasms ISO RGD:10164 D RGD:9068941 20200609 RGD PMID:22782996|REF_RGD_ID:7421558 12100173 ANXA1 annexin A1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15654357 12100173 ANXA1 annexin A1 gene DOID:9004945 Ocular Toxoplasmosis ISO RGD:10164 D RGD:9068941 20200609 RGD PMID:22740770|REF_RGD_ID:7421536 12100173 ANXA1 annexin A1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:16316942|REF_RGD_ID:2306898 12100173 ANXA1 annexin A1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 12100173 ANXA1 annexin A1 gene DOID:9005372 Inflammation ISO RGD:2118 D RGD:9068941 20200609 RGD protein:increased expression:mast cell granule, cytoplasm PMID:11005211|REF_RGD_ID:7421660 12100173 ANXA1 annexin A1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2118 D RGD:9068941 20200609 RGD protein:increased glycation:respiratory system blood vessel endothelium PMID:11423489|REF_RGD_ID:2306888 12100173 ANXA1 annexin A1 gene DOID:9005941 Rhinosinusitis ISO RGD:730873 D RGD:9068941 20200609 RGD associated with Nasal Polyps PMID:22279949|REF_RGD_ID:7421555 12100173 ANXA1 annexin A1 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:20953576|REF_RGD_ID:7421585 12100173 ANXA1 annexin A1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:2118 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve PMID:10603033|REF_RGD_ID:2306914 12100173 ANXA1 annexin A1 gene DOID:9006779 Discoid Lupus Erythematosus ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:20701627|REF_RGD_ID:7421565 12100173 ANXA1 annexin A1 gene DOID:9007364 Mouth Neoplasms ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12100173 ANXA1 annexin A1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:10164 D RGD:9068941 20200609 RGD PMID:22924634|REF_RGD_ID:7421655 12100173 ANXA1 annexin A1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2118 D RGD:9068941 20200609 RGD protein:increased expression:heart, leukocyte PMID:11641252|REF_RGD_ID:2306910 12100173 ANXA1 annexin A1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:22924634|REF_RGD_ID:7421655 12100173 ANXA1 annexin A1 gene DOID:9008110 Blister ISO RGD:730873 D RGD:9068941 20200609 RGD associated with Hypersensitivity, Delayed;protein:increased expression:mononuclear cell PMID:10331485|REF_RGD_ID:7421575 12100173 ANXA1 annexin A1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17405164 12100173 ANXA1 annexin A1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:20353277|REF_RGD_ID:7421540 12100173 ANXA1 annexin A1 gene DOID:9588 encephalitis ISO RGD:10164 D RGD:9068941 20200609 RGD associated with Sepsis PMID:22964301|REF_RGD_ID:7421580 12100190 KDM4B lysine demethylase 4B gene DOID:0050902 medulloblastoma ISO RGD:1349901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 12100190 KDM4B lysine demethylase 4B gene DOID:0050902 medulloblastoma ISO RGD:1349901 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (human) PMID:19270706|REF_RGD_ID:9587481 12100190 KDM4B lysine demethylase 4B gene DOID:0070068 autosomal dominant intellectual developmental disorder 38 ISO RGD:1349901 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38 PMID:25741868 12100190 KDM4B lysine demethylase 4B gene DOID:10283 prostate cancer ISO RGD:1349901 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate (human) PMID:22120715|REF_RGD_ID:9586733 12100190 KDM4B lysine demethylase 4B gene DOID:10534 stomach cancer ISO RGD:1349901 D RGD:9068941 20200609 RGD mRNA:increased expression:gastric mucosa (human) PMID:22133676|REF_RGD_ID:9587739 12100190 KDM4B lysine demethylase 4B gene DOID:10534 stomach cancer severity ISO RGD:1349901 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:24077348|REF_RGD_ID:9587753 12100190 KDM4B lysine demethylase 4B gene DOID:10534 stomach cancer treatment ISO RGD:1349901 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:22133676|REF_RGD_ID:9587739 12100190 KDM4B lysine demethylase 4B gene DOID:11054 urinary bladder cancer ISO RGD:1349901 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder (human) PMID:21930796|REF_RGD_ID:9587740 12100190 KDM4B lysine demethylase 4B gene DOID:1324 lung cancer ISO RGD:1349901 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (human) PMID:21930796|REF_RGD_ID:9587740 12100190 KDM4B lysine demethylase 4B gene DOID:1612 breast cancer severity ISO RGD:1349901 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast (human) PMID:21445275|REF_RGD_ID:9587754 12100190 KDM4B lysine demethylase 4B gene DOID:1612 breast cancer treatment ISO RGD:1349901 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:21445275|REF_RGD_ID:9587754 12100190 KDM4B lysine demethylase 4B gene DOID:1909 melanoma ISO RGD:1349901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 12100190 KDM4B lysine demethylase 4B gene DOID:5940 malignant peripheral nerve sheath tumor ISO RGD:1349901 D RGD:9068941 20200609 RGD DNA:amplification:cds (human) PMID:21785329|REF_RGD_ID:9587769 12100190 KDM4B lysine demethylase 4B gene DOID:630 genetic disease ISO RGD:1349901 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:33232677 12100190 KDM4B lysine demethylase 4B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349901 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12100190 KDM4B lysine demethylase 4B gene DOID:9008255 Cognitive Impairment with or Without Cerebellar Ataxia ISO RGD:1349901 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia PMID:25741868 12100190 KDM4B lysine demethylase 4B gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:1349901 D RGD:9068941 20200609 RGD protein:increased expression:colon mucosa (human) PMID:22345654|REF_RGD_ID:9586735 12100190 KDM4B lysine demethylase 4B gene DOID:9008506 Autosomal Dominant Intellectual Developmental Disorder 65 ISO RGD:1349901 D RGD:7240710 20210526 OMIM 12100190 KDM4B lysine demethylase 4B gene DOID:9008506 Autosomal Dominant Intellectual Developmental Disorder 65 ISO RGD:1349901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 65 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 65 PMID:25741868|PMID:33232677 12100190 KDM4B lysine demethylase 4B gene DOID:9256 colorectal cancer treatment ISO RGD:1349901 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:24473398|REF_RGD_ID:9587755 12100190 KDM4B lysine demethylase 4B gene DOID:986 alopecia areata ISO RGD:1349901 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:21936853|REF_RGD_ID:9587460 12100229 PLA2G12A phospholipase A2 group XIIA gene DOID:630 genetic disease ISO RGD:1312232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100229 PLA2G12A phospholipase A2 group XIIA gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12100237 SPRYD4 SPRY domain containing 4 gene DOID:630 genetic disease ISO RGD:1603522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100243 GAS2L3 growth arrest specific 2 like 3 gene DOID:0080600 COVID-19 ISO RGD:1315710 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12100243 GAS2L3 growth arrest specific 2 like 3 gene DOID:630 genetic disease ISO RGD:1315710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100265 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:0060001 withdrawal disorder ISO RGD:732446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12511956 12100265 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:11832 visual epilepsy ISO RGD:62154 D RGD:9068941 20200609 RGD PMID:7502080|REF_RGD_ID:737715 12100265 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:1824 status epilepticus ISO RGD:61862 D RGD:9068941 20200609 RGD PMID:25457025|REF_RGD_ID:13792697 12100265 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:1824 status epilepticus ISO RGD:732446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19222700 12100265 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:4481 allergic rhinitis ISO RGD:732446 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:34624383 12100265 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:630 genetic disease ISO RGD:732446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:27352031|PMID:31300657 12100265 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:9000543 Death ISO RGD:62154 D RGD:9068941 20200609 RGD PMID:7502080|REF_RGD_ID:737715 12100265 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:9002362 Hyperkinesis ISO RGD:732446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18171924 12100265 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:9004042 Olfaction Disorders ISO RGD:732446 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:34624383 12100265 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732446 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12100265 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:9005015 NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES ISO RGD:732446 D RGD:7240710 20201111 OMIM 12100265 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:9005015 NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES ISO RGD:732446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with language impairment and behavioral abnormalities PMID:25741868|PMID:28492532|PMID:31300657 12100265 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18945913 12100285 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:36947808 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:11317351|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9915943 12100285 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:36947808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome PMID:15086927|PMID:15968559|PMID:17211152|PMID:25741868|PMID:28476686|PMID:28492532 12100285 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:36947808 D RGD:7240710 20200805 OMIM 12100285 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:36947808 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:10577936|PMID:10652016|PMID:10972661|PMID:11317351|PMID:11562357|PMID:11726550|PMID:11854170|PMID:12039988|PMID:12324903|PMID:12631336|PMID:12707396|PMID:14570703|PMID:15086927|PMID:15213260|PMID:15338398|PMID:15496146|PMID:15780077|PMID:15906409|PMID:15968559|PMID:16199547|PMID:16316524|PMID:16518627|PMID:16703378|PMID:17211152|PMID:17290294|PMID:17371932|PMID:17413422|PMID:18436095|PMID:18443213|PMID:18503012|PMID:18614772|PMID:18709391|PMID:19194555|PMID:19321760|PMID:19406966|PMID:19423745|PMID:19443487|PMID:19808243|PMID:19812541|PMID:20172850|PMID:20507940|PMID:20798252|PMID:20852892|PMID:20981092|PMID:21125408|PMID:21228398|PMID:21415313|PMID:21672106|PMID:22009864|PMID:22099579|PMID:22565185|PMID:22584503|PMID:22732337|PMID:22995991|PMID:23349334|PMID:23595123|PMID:23949594|PMID:24130771|PMID:24142548|PMID:24303155|PMID:24371179|PMID:24397250|PMID:24472419|PMID:24498843|PMID:24682440|PMID:24742477|PMID:24902943|PMID:24948143|PMID:25349199|PMID:25407002|PMID:25501161|PMID:25525159|PMID:25533962|PMID:25720465|PMID:25729976|PMID:25741868|PMID:25804400|PMID:25903641|PMID:26248470|PMID:26346198|PMID:26467025|PMID:26560236|PMID:26668027|PMID:26764160|PMID:26990548|PMID:27019444|PMID:27312921|PMID:27325253|PMID:27535533|PMID:27594755|PMID:27882743|PMID:27884173|PMID:28012006|PMID:28117080|PMID:28160156|PMID:28204945|PMID:28392951|PMID:28476686|PMID:28492532|PMID:28658201|PMID:28780565|PMID:28921387|PMID:29127259|PMID:29474669|PMID:29676031|PMID:29869118|PMID:30013592|PMID:30215773|PMID:30295827|PMID:30655312|PMID:30863911|PMID:30963316|PMID:31216994|PMID:31456999|PMID:31655822|PMID:31738409|PMID:32581362|PMID:32860008|PMID:33216373|PMID:33591954|PMID:33980730|PMID:34859019|PMID:9543371|PMID:9660941|PMID:9915943 12100285 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:36947808 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 | ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:10577936|PMID:10652016|PMID:10972661|PMID:11317351|PMID:11562357|PMID:11726550|PMID:11854170|PMID:12039988|PMID:12324903|PMID:12495287|PMID:12631336|PMID:12707396|PMID:14570703|PMID:15086927|PMID:15213260|PMID:15338398|PMID:15496146|PMID:15780077|PMID:15906409|PMID:15968559|PMID:16199547|PMID:16316524|PMID:16518627|PMID:16703378|PMID:17211152|PMID:17290294|PMID:17371932|PMID:17413422|PMID:17576681|PMID:18436095|PMID:18443213|PMID:18503012|PMID:18614772|PMID:18709391|PMID:19194555|PMID:19321760|PMID:19406966|PMID:19423745|PMID:19443487|PMID:19808243|PMID:19812541|PMID:20172850|PMID:20507940|PMID:20798252|PMID:20852892|PMID:20981092|PMID:21125408|PMID:21228398|PMID:21415313|PMID:21672106|PMID:22009864|PMID:22099579|PMID:22565185|PMID:22584503|PMID:22732337|PMID:22995991|PMID:23349334|PMID:23595123|PMID:23932794|PMID:23949594|PMID:24130771|PMID:24142548|PMID:24303155|PMID:24371179|PMID:24397250|PMID:24472419|PMID:24498843|PMID:24682440|PMID:24742477|PMID:24902943|PMID:24948143|PMID:25349199|PMID:25407002|PMID:25501161|PMID:25525159|PMID:25533962|PMID:25720465|PMID:25729976|PMID:25741868|PMID:25804400|PMID:25903641|PMID:26248470|PMID:26346198|PMID:26467025|PMID:2656023|PMID:26560236|PMID:26668027|PMID:26764160|PMID:26990548|PMID:27019444|PMID:27312921|PMID:27325253|PMID:27535533|PMID:27594755|PMID:27882743|PMID:27884173|PMID:28012006|PMID:28117080|PMID:28160156|PMID:28204945|PMID:28392951|PMID:28476686|PMID:28492532|PMID:28658201|PMID:28780565|PMID:28921387|PMID:29127259|PMID:29474669|PMID:29676031|PMID:29869118|PMID:30013592|PMID:30215773|PMID:30295827|PMID:30655312|PMID:30863911|PMID:30963316|PMID:31216994|PMID:31456999|PMID:31655822|PMID:31738409|PMID:31788464|PMID:31937884|PMID:32581362|PMID:32860008|PMID:33216373|PMID:33591954|PMID:33980730|PMID:34859019|PMID:9536098|PMID:9543371|PMID:9660941|PMID:9915943 12100285 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:0110222 Brugada syndrome 5 ISO RGD:36947808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12100285 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:36947808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12100285 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:0111365 benign familial hematuria ISO RGD:36947808 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microscopic hematuria PMID:25741868|PMID:28492532 12100285 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:10966 lipoid nephrosis ISO RGD:36947808 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:18256598 12100285 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:1184 nephrotic syndrome ISO RGD:36947808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:10972661|PMID:11317351|PMID:11726550|PMID:11854170|PMID:12039988|PMID:12495287|PMID:14570703|PMID:15213260|PMID:15338398|PMID:15780077|PMID:16518627|PMID:17576681|PMID:18503012|PMID:18614772|PMID:18709391|PMID:19194555|PMID:19406966|PMID:19812541|PMID:20172850|PMID:20507940|PMID:20798252|PMID:21125408|PMID:21415313|PMID:22565185|PMID:22584503|PMID:23595123|PMID:23932794|PMID:23949594|PMID:24142548|PMID:24303155|PMID:24742477|PMID:24902943|PMID:25349199|PMID:25720465|PMID:25741868|PMID:26467025|PMID:2656023|PMID:26560236|PMID:27019444|PMID:27325253|PMID:27594755|PMID:28117080|PMID:28204945|PMID:28392951|PMID:28492532|PMID:28921387|PMID:29127259|PMID:29474669|PMID:30295827|PMID:30655312|PMID:30963316|PMID:31456999|PMID:32860008|PMID:33591954|PMID:9536098|PMID:9660941|PMID:9915943 12100285 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:36947808 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:10652016|PMID:11317351|PMID:11726550|PMID:11854170|PMID:12324903|PMID:12631336|PMID:15086927|PMID:15338398|PMID:17211152|PMID:17371932|PMID:18443213|PMID:18503012|PMID:18614772|PMID:19406966|PMID:19808243|PMID:19812541|PMID:20172850|PMID:20507940|PMID:20798252|PMID:20981092|PMID:21228398|PMID:21415313|PMID:22565185|PMID:23349334|PMID:23595123|PMID:24130771|PMID:24142548|PMID:24371179|PMID:24472419|PMID:24742477|PMID:24902943|PMID:24948143|PMID:25349199|PMID:25741868|PMID:25804400|PMID:26248470|PMID:26346198|PMID:26467025|PMID:26560236|PMID:26668027|PMID:26764160|PMID:26990548|PMID:27019444|PMID:27312921|PMID:27535533|PMID:27884173|PMID:28492532|PMID:28658201|PMID:28724397|PMID:28780565|PMID:29474669|PMID:30013592|PMID:31655822|PMID:31738409|PMID:33216373|PMID:33980730|PMID:9915943 12100285 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:2590 familial nephrotic syndrome ISO RGD:36947808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital nephrotic syndrome | ClinVar Annotator: match by term: Familial nephrotic syndrome PMID:10652016|PMID:11317351|PMID:11854170|PMID:12039988|PMID:12324903|PMID:12495287|PMID:12631336|PMID:15086927|PMID:15338398|PMID:15968559|PMID:16199547|PMID:16316524|PMID:17211152|PMID:17371932|PMID:18436095|PMID:18443213|PMID:19321760|PMID:19406966|PMID:19808243|PMID:19812541|PMID:20172850|PMID:20507940|PMID:20798252|PMID:20981092|PMID:21228398|PMID:22565185|PMID:22995991|PMID:23349334|PMID:23595123|PMID:24130771|PMID:24142548|PMID:24371179|PMID:24472419|PMID:24948143|PMID:25349199|PMID:25741868|PMID:25804400|PMID:26248470|PMID:26346198|PMID:26467025|PMID:26560236|PMID:26668027|PMID:26764160|PMID:27019444|PMID:27312921|PMID:27535533|PMID:27884173|PMID:28012006|PMID:28117080|PMID:28476686|PMID:28492532|PMID:28724397|PMID:30013592|PMID:31216994|PMID:31738409|PMID:32581362|PMID:9915943 12100285 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:2921 glomerulonephritis ISO RGD:36947808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glomerulonephritis PMID:25741868 12100285 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:557 kidney disease ISO RGD:36947808 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:11317351|PMID:11562357|PMID:11854170|PMID:12039988|PMID:15086927|PMID:15780077|PMID:18503012|PMID:18614772|PMID:19194555|PMID:19406966|PMID:20172850|PMID:20507940|PMID:21125408|PMID:21415313|PMID:23349334|PMID:25349199|PMID:25741868|PMID:26346198|PMID:26668027|PMID:28012006|PMID:28204945|PMID:28492532|PMID:28780565|PMID:29127259|PMID:30655312 12100285 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:576 proteinuria ISO RGD:36947808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:10652016|PMID:11317351|PMID:12324903|PMID:12631336|PMID:19812541|PMID:24142548|PMID:25741868|PMID:28492532 12100285 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:630 genetic disease ISO RGD:36947808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12100285 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:9001542 Albuminuria ISO RGD:36947808 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:15684566 12100285 NPHS1 NPHS1 adhesion molecule, nephrin gene DOID:9279 hyperhomocysteinemia ISO RGD:36947808 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:20116427 12100322 ARMH3 armadillo like helical domain containing 3 gene DOID:0060224 atrial fibrillation ISO RGD:1313900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12100361 TMEM26 transmembrane protein 26 gene DOID:630 genetic disease ISO RGD:1319527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100371 ANKK1 ankyrin repeat and kinase domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1313623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12100371 ANKK1 ankyrin repeat and kinase domain containing 1 gene DOID:303 substance-related disorder ISO RGD:1313623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dopamine receptor d2, reduced brain density of PMID:10395223|PMID:11105655|PMID:15146457|PMID:15370155|PMID:15479180|PMID:18063800|PMID:18621654|PMID:18927395|PMID:9429233|PMID:9650634 12100371 ANKK1 ankyrin repeat and kinase domain containing 1 gene DOID:630 genetic disease ISO RGD:1313623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100371 ANKK1 ankyrin repeat and kinase domain containing 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1313623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12100371 ANKK1 ankyrin repeat and kinase domain containing 1 gene DOID:93 language disorder ISO RGD:1313623 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23691092 12100383 USP43 ubiquitin specific peptidase 43 gene DOID:630 genetic disease ISO RGD:1317758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100401 TVP23B trans-golgi network vesicle protein 23 homolog B gene DOID:0050777 Joubert syndrome ISO RGD:1314909 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12100401 TVP23B trans-golgi network vesicle protein 23 homolog B gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1314909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12100401 TVP23B trans-golgi network vesicle protein 23 homolog B gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1314909 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12100401 TVP23B trans-golgi network vesicle protein 23 homolog B gene DOID:12849 autistic disorder ISO RGD:1314909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12100401 TVP23B trans-golgi network vesicle protein 23 homolog B gene DOID:630 genetic disease ISO RGD:1314909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100435 CLDN9 claudin 9 gene DOID:0050563 nonsyndromic deafness ISO RGD:1319096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:25741868 12100435 CLDN9 claudin 9 gene DOID:0060744 Pendred syndrome ISO RGD:1319096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:30311386|PMID:35802133|PMID:36633841 12100435 CLDN9 claudin 9 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1319096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12100435 CLDN9 claudin 9 gene DOID:0112162 autosomal recessive nonsyndromic deafness 116 ISO RGD:1319096 D RGD:7240710 20201202 OMIM 12100435 CLDN9 claudin 9 gene DOID:0112162 autosomal recessive nonsyndromic deafness 116 ISO RGD:1319096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 116 PMID:25741868|PMID:30311386|PMID:31175426|PMID:35802133|PMID:36633841 12100435 CLDN9 claudin 9 gene DOID:1826 epilepsy ISO RGD:1319096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12100435 CLDN9 claudin 9 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319096 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12100435 CLDN9 claudin 9 gene DOID:630 genetic disease ISO RGD:1319096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100435 CLDN9 claudin 9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12100435 CLDN9 claudin 9 gene DOID:9004538 Hearing Loss ISO RGD:1319096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss PMID:25741868|PMID:30311386|PMID:31175426 12100441 RUSC1 RUN and SH3 domain containing 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1349680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12100441 RUSC1 RUN and SH3 domain containing 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1349680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12100441 RUSC1 RUN and SH3 domain containing 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1349680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12100441 RUSC1 RUN and SH3 domain containing 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1349680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12100441 RUSC1 RUN and SH3 domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1349680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12100441 RUSC1 RUN and SH3 domain containing 1 gene DOID:5812 MHC class II deficiency ISO RGD:1349680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12100441 RUSC1 RUN and SH3 domain containing 1 gene DOID:630 genetic disease ISO RGD:1349680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100441 RUSC1 RUN and SH3 domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12100455 PIP4K2B phosphatidylinositol-5-phosphate 4-kinase type 2 beta gene DOID:630 genetic disease ISO RGD:736672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100472 MYO1A myosin IA gene DOID:0110571 autosomal dominant nonsyndromic deafness 48 ISO RGD:1345169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 48 PMID:12736868|PMID:24033266|PMID:24616153|PMID:25741868 12100472 MYO1A myosin IA gene DOID:10003 sensorineural hearing loss ISO RGD:1345169 D RGD:9068941 20200609 RGD DFNA48, OMIM:607841 PMID:12736868|REF_RGD_ID:1600218 12100472 MYO1A myosin IA gene DOID:10283 prostate cancer ISO RGD:1345169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12100472 MYO1A myosin IA gene DOID:630 genetic disease ISO RGD:1345169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868 12100472 MYO1A myosin IA gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1345169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:24033266 12100483 ETV5 ETS variant transcription factor 5 gene DOID:2661 myoepithelioma ISO RGD:1320007 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12100483 ETV5 ETS variant transcription factor 5 gene DOID:630 genetic disease ISO RGD:1320007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100483 ETV5 ETS variant transcription factor 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27783944 12100483 ETV5 ETS variant transcription factor 5 gene DOID:9008192 Neoplastic Processes ISO RGD:1320007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27783944 12100501 NOS1AP nitric oxide synthase 1 adaptor protein gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:732118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12100501 NOS1AP nitric oxide synthase 1 adaptor protein gene DOID:0112268 nephrotic syndrome type 22 ISO RGD:732118 D RGD:7240710 20210203 OMIM 12100501 NOS1AP nitric oxide synthase 1 adaptor protein gene DOID:0112268 nephrotic syndrome type 22 ISO RGD:732118 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 22 PMID:25741868|PMID:28492532|PMID:33523862 12100501 NOS1AP nitric oxide synthase 1 adaptor protein gene DOID:11446 sciatic neuropathy ISO RGD:620106 D RGD:9068941 20210115 RGD mRNA:increased expression:sciatic nerve PMID:17768032|REF_RGD_ID:7327169 12100501 NOS1AP nitric oxide synthase 1 adaptor protein gene DOID:1540 parathyroid carcinoma ISO RGD:732118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12100501 NOS1AP nitric oxide synthase 1 adaptor protein gene DOID:1596 depressive disorder treatment ISO RGD:620106 D RGD:9068941 20210115 RGD PMID:19587612|REF_RGD_ID:7327168 12100501 NOS1AP nitric oxide synthase 1 adaptor protein gene DOID:2843 long QT syndrome ISO RGD:732118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12100501 NOS1AP nitric oxide synthase 1 adaptor protein gene DOID:6000 congestive heart failure ISO RGD:620106 D RGD:9068941 20210115 RGD mRNA:increased expression:brain PMID:21831995|REF_RGD_ID:7327163 12100501 NOS1AP nitric oxide synthase 1 adaptor protein gene DOID:630 genetic disease ISO RGD:732118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100501 NOS1AP nitric oxide synthase 1 adaptor protein gene DOID:9000064 Cardiac Arrhythmias ISO RGD:732118 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 12100501 NOS1AP nitric oxide synthase 1 adaptor protein gene DOID:9001627 Pathologic Constriction ISO RGD:620106 D RGD:9068941 20210115 RGD mRNA, protein:increased expression, alternative form:sciatic nerve PMID:20202870|REF_RGD_ID:5131967 12100501 NOS1AP nitric oxide synthase 1 adaptor protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12100518 APOBEC3Z1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3Z1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1351728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12100518 APOBEC3Z1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3Z1 gene DOID:14566 disease of cellular proliferation ISO RGD:1351728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26258849 12100518 APOBEC3Z1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3Z1 gene DOID:630 genetic disease ISO RGD:1351728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100518 APOBEC3Z1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3Z1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1351728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12100518 APOBEC3Z1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3Z1 gene DOID:9008192 Neoplastic Processes ISO RGD:1351728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26258849 12100518 APOBEC3Z1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3Z1 gene DOID:9008939 Breast Neoplasms ISO RGD:1351728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24728294 12100522 C5H1orf141 chromosome 5 C1orf141 homolog gene DOID:1059 intellectual disability ISO RGD:1606070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12100535 ARL4A ADP ribosylation factor like GTPase 4A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12100535 ARL4A ADP ribosylation factor like GTPase 4A gene DOID:630 genetic disease ISO RGD:1604399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100546 ASXL2 ASXL transcriptional regulator 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1312315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12100546 ASXL2 ASXL transcriptional regulator 2 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1312315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 12100546 ASXL2 ASXL transcriptional regulator 2 gene DOID:10908 hydrocephalus ISO RGD:1312315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe hydrocephalus PMID:25741868 12100546 ASXL2 ASXL transcriptional regulator 2 gene DOID:11054 urinary bladder cancer ISO RGD:1312315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121791 12100546 ASXL2 ASXL transcriptional regulator 2 gene DOID:630 genetic disease ISO RGD:1312315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12100546 ASXL2 ASXL transcriptional regulator 2 gene DOID:9003728 Shashi-Pena Syndrome ISO RGD:1312315 D RGD:7240710 20190315 OMIM 12100546 ASXL2 ASXL transcriptional regulator 2 gene DOID:9003728 Shashi-Pena Syndrome ISO RGD:1312315 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Shashi-Pena syndrome PMID:25741868|PMID:27693232|PMID:28492532 12100546 ASXL2 ASXL transcriptional regulator 2 gene DOID:9008582 Developmental Disease ISO RGD:1312315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12100546 ASXL2 ASXL transcriptional regulator 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1312315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27798625 12100569 ASXL1 ASXL transcriptional regulator 1 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1344611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:25741868|PMID:32581362 12100569 ASXL1 ASXL transcriptional regulator 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1344611 D RGD:7240710 20180130 OMIM 12100569 ASXL1 ASXL transcriptional regulator 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1344611 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome PMID:20880116|PMID:21576631|PMID:21706002|PMID:21881046|PMID:22031865|PMID:22058207|PMID:22237106|PMID:22489043|PMID:23018865|PMID:23619563|PMID:23690417|PMID:24255920|PMID:24442206|PMID:24458439|PMID:24496303|PMID:24695057|PMID:25596267|PMID:25652455|PMID:25741868|PMID:27069254|PMID:27276561|PMID:27895058 12100569 ASXL1 ASXL transcriptional regulator 1 gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1344611 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:21576631|REF_RGD_ID:11038707 12100569 ASXL1 ASXL transcriptional regulator 1 gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:1344611 D RGD:9068941 20200609 RGD PMID:24045501|REF_RGD_ID:11038769 12100569 ASXL1 ASXL transcriptional regulator 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1344611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930 12100569 ASXL1 ASXL transcriptional regulator 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1344611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 12100569 ASXL1 ASXL transcriptional regulator 1 gene DOID:0080188 chronic myelomonocytic leukemia disease_progression ISO RGD:1344611 D RGD:9068941 20200609 RGD DNA:mutations:exon: PMID:20880116|REF_RGD_ID:11038767 12100569 ASXL1 ASXL transcriptional regulator 1 gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1344611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency PMID:28492532 12100569 ASXL1 ASXL transcriptional regulator 1 gene DOID:1059 intellectual disability ISO RGD:1344611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24728327|PMID:25741868|PMID:28492532 12100569 ASXL1 ASXL transcriptional regulator 1 gene DOID:10907 microcephaly ISO RGD:1344611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12100569 ASXL1 ASXL transcriptional regulator 1 gene DOID:1826 epilepsy ISO RGD:1344611 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12100569 ASXL1 ASXL transcriptional regulator 1 gene DOID:2154 nephroblastoma ISO RGD:1344611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 12100569 ASXL1 ASXL transcriptional regulator 1 gene DOID:2226 myeloproliferative neoplasm ISO RGD:1557697 D RGD:9068941 20220825 MouseDO 12100569 ASXL1 ASXL transcriptional regulator 1 gene DOID:420 hypertrichosis ISO RGD:1344611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrichosis PMID:21706002|PMID:25741868 12100569 ASXL1 ASXL transcriptional regulator 1 gene DOID:4797 SM-AHNMD disease_progression ISO RGD:1344611 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:24465546|REF_RGD_ID:11038711 12100569 ASXL1 ASXL transcriptional regulator 1 gene DOID:4971 myelofibrosis ISO RGD:1344611 D RGD:9068941 20200609 RGD DNA:mutation,deletion:exon:2475dupA, 2846_2847del (human) PMID:21712540|REF_RGD_ID:11038705 12100569 ASXL1 ASXL transcriptional regulator 1 gene DOID:4971 myelofibrosis disease_progression ISO RGD:1344611 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:23619563|REF_RGD_ID:11038768 12100569 ASXL1 ASXL transcriptional regulator 1 gene DOID:630 genetic disease ISO RGD:1344611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16412590|PMID:21706002|PMID:25131622|PMID:25741868|PMID:25921057|PMID:26364555|PMID:28229513|PMID:28492532|PMID:30806792|PMID:31969346 12100569 ASXL1 ASXL transcriptional regulator 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1344611 D RGD:9068941 20210409 RGD associated with colorectal cancer PMID:32317519|REF_RGD_ID:126779580 12100569 ASXL1 ASXL transcriptional regulator 1 gene DOID:9001582 Bohring Syndrome ISO RGD:1344611 D RGD:7240710 20180130 OMIM 12100569 ASXL1 ASXL transcriptional regulator 1 gene DOID:9001582 Bohring Syndrome ISO RGD:1344611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bohring-Opitz syndrome PMID:16412590|PMID:18414213|PMID:20880116|PMID:21576631|PMID:21706002|PMID:21881046|PMID:22031865|PMID:22058207|PMID:22419483|PMID:22489043|PMID:23018865|PMID:23619563|PMID:23690417|PMID:24033266|PMID:24255920|PMID:24442206|PMID:24458439|PMID:24496303|PMID:24695057|PMID:24728327|PMID:25131622|PMID:25326635|PMID:25596267|PMID:25652455|PMID:25741868|PMID:25921057|PMID:26364555|PMID:26467025|PMID:26633542|PMID:27069254|PMID:27276561|PMID:27895058|PMID:28492532|PMID:29681105|PMID:30147881|PMID:30158690|PMID:31692235|PMID:31969346|PMID:32581362 12100569 ASXL1 ASXL transcriptional regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12100569 ASXL1 ASXL transcriptional regulator 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1344611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 12100569 ASXL1 ASXL transcriptional regulator 1 gene DOID:9005985 Rubinstein Taybi like Syndrome ISO RGD:1344611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rubinstein Taybi like syndrome PMID:16412590|PMID:30806792 12100569 ASXL1 ASXL transcriptional regulator 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1344611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay PMID:21706002|PMID:25741868|PMID:28492532 12100569 ASXL1 ASXL transcriptional regulator 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1557697 D RGD:9068941 20220825 MouseDO OMIM:601626 12100569 ASXL1 ASXL transcriptional regulator 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1344611 D RGD:9068941 20200609 RGD DNA:mutations:exon: PMID:20693432|REF_RGD_ID:11038706 12100590 CHAMP1 chromosome alignment maintaining phosphoprotein 1 gene DOID:0070070 autosomal dominant intellectual developmental disorder 40 ISO RGD:1322656 D RGD:7240710 20180130 OMIM 12100590 CHAMP1 chromosome alignment maintaining phosphoprotein 1 gene DOID:0070070 autosomal dominant intellectual developmental disorder 40 ISO RGD:1322656 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 40 PMID:21063390|PMID:23020937|PMID:24781758|PMID:25533962|PMID:25741868|PMID:25741869|PMID:26340335|PMID:26751395|PMID:27148580|PMID:28492532 12100590 CHAMP1 chromosome alignment maintaining phosphoprotein 1 gene DOID:1059 intellectual disability ISO RGD:1322656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disability with severe speech impairment PMID:23020937|PMID:24781758|PMID:25741868|PMID:26340335|PMID:26751395|PMID:27148580 12100590 CHAMP1 chromosome alignment maintaining phosphoprotein 1 gene DOID:2222 factor X deficiency ISO RGD:1322656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12100590 CHAMP1 chromosome alignment maintaining phosphoprotein 1 gene DOID:630 genetic disease ISO RGD:1322656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21063390|PMID:23020937|PMID:24781758|PMID:25533962|PMID:25741868|PMID:26340335|PMID:26751395|PMID:27148580|PMID:28492532 12100590 CHAMP1 chromosome alignment maintaining phosphoprotein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12100590 CHAMP1 chromosome alignment maintaining phosphoprotein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1322656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12100597 ZNF853 zinc finger protein 853 gene DOID:630 genetic disease ISO RGD:2302454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100604 NME5 NME/NM23 family member 5 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1343010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12100604 NME5 NME/NM23 family member 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343010 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12100604 NME5 NME/NM23 family member 5 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1343010 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12100604 NME5 NME/NM23 family member 5 gene DOID:10908 hydrocephalus ISO RGD:1623132 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 12100604 NME5 NME/NM23 family member 5 gene DOID:630 genetic disease ISO RGD:1343010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100604 NME5 NME/NM23 family member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12100604 NME5 NME/NM23 family member 5 gene DOID:9005202 Primary Ciliary Dyskinesia 48 ISO RGD:1343010 D RGD:7240710 20220921 OMIM 12100604 NME5 NME/NM23 family member 5 gene DOID:9005202 Primary Ciliary Dyskinesia 48 ISO RGD:1343010 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 48, without situs inversus PMID:25741868|PMID:32185794|PMID:32950024 12100604 NME5 NME/NM23 family member 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12100604 NME5 NME/NM23 family member 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343010 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12100618 OR4D6 olfactory receptor family 4 subfamily D member 6 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1345921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12100618 OR4D6 olfactory receptor family 4 subfamily D member 6 gene DOID:1059 intellectual disability ISO RGD:1345921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12100618 OR4D6 olfactory receptor family 4 subfamily D member 6 gene DOID:630 genetic disease ISO RGD:1345921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100656 FAM187A family with sequence similarity 187 member A gene DOID:0110621 primary ciliary dyskinesia 17 ISO RGD:6482918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 17 12100656 FAM187A family with sequence similarity 187 member A gene DOID:9562 primary ciliary dyskinesia ISO RGD:6482918 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 12100684 LRATD2 LRAT domain containing 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1606136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12100684 LRATD2 LRAT domain containing 2 gene DOID:630 genetic disease ISO RGD:1606136 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:0050475 Weill-Marchesani syndrome ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome PMID:17576681|PMID:19656777|PMID:22924778|PMID:23218701|PMID:23378721|PMID:23401661|PMID:25741868|PMID:26425313|PMID:27293371|PMID:28492532|PMID:9536098 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:0050593 primary congenital glaucoma ISO RGD:68549 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary congenital glaucoma PMID:25741868 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:0060305 megalocornea ISO RGD:68549 D RGD:9068941 20230309 RGD associated with glaucoma;DNA:missense mutation:CDS:p.C1438Y (human) PMID:22025892|REF_RGD_ID:156451371 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:0111150 autosomal dominant isolated ectopia lentis 1 ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant PMID:23218701|PMID:23401661|PMID:28492532 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:1059 intellectual disability ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:1068 juvenile glaucoma ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma of childhood PMID:24033266 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:1070 primary open angle glaucoma ISO RGD:68549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:23401661|PMID:25741868|PMID:26425313|PMID:28492532 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:11211 buphthalmos ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A PMID:19656777 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:12930 dilated cardiomyopathy treatment ISO RGD:68380 D RGD:9068941 20230309 RGD PMID:31512380|REF_RGD_ID:156431214 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:13641 exfoliation syndrome ISO RGD:68549 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pseudoexfoliation glaucoma PMID:23401661|PMID:25741868|PMID:28492532 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:14199 posterior dislocation of lens ISO RGD:68550 D RGD:9068941 20230309 RGD PMID:24908666|REF_RGD_ID:156451375 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:14323 Marfan syndrome ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:1686 glaucoma ISO RGD:68549 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19361779|PMID:27149523 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:6000 congestive heart failure ISO RGD:68549 D RGD:9068941 20230309 RGD associated with dyspnea;protein:increased expression:plasma (human) PMID:22587491|REF_RGD_ID:156451376 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:6000 congestive heart failure ISO RGD:68549 D RGD:9068941 20230323 RGD mRNA:increased expression:heart (human) PMID:32478206|REF_RGD_ID:213230162 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:630 genetic disease ISO RGD:68549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:9000669 Ventricular Dysfunction, Right ISO RGD:68380 D RGD:9068941 20230309 RGD associated with Pulmonary Arterial Hypertension;mRNA:increased expression:heart right ventricle (rat) PMID:30213070|REF_RGD_ID:156451373 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:9001251 Microspherophakia ISO RGD:68549 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microspherophakia PMID:19361779|PMID:20179738|PMID:20617341|PMID:21081970|PMID:22025892|PMID:25741868|PMID:27409795|PMID:28492532 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:9002998 Weill-Marchesani Syndrome 1 ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 1 PMID:22539340 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:9003139 Cardiac Fibrosis ISO RGD:68550 D RGD:9068941 20230309 RGD mRNA:increased expression:heart (mouse) PMID:29950403|REF_RGD_ID:156451654 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:9003580 Primary Congenital Glaucoma 3, D ISO RGD:68549 D RGD:7240710 20180130 OMIM 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:9003580 Primary Congenital Glaucoma 3, D ISO RGD:68549 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Glaucoma 3, primary congenital, D PMID:17576681|PMID:19361779|PMID:19656777|PMID:20179738|PMID:21081970|PMID:22025892|PMID:22924778|PMID:23218701|PMID:23378721|PMID:23401661|PMID:25741868|PMID:26425313|PMID:27293371|PMID:27409795|PMID:28492532|PMID:9536098 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:9003936 Cardiomegaly ISO RGD:68550 D RGD:9068941 20230323 RGD mRNA:increased expression:heart (mouse) PMID:29510080|REF_RGD_ID:213230163 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:9004201 Ectopia Lentis ISO RGD:68550 D RGD:9068941 20230309 RGD PMID:33039488|REF_RGD_ID:156431213 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:9006438 Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma ISO RGD:68549 D RGD:7240710 20180130 OMIM 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:68549 D RGD:9068941 20230309 RGD mRNA:increased expression:myocardium (human) PMID:17343875|REF_RGD_ID:156451374 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:9007147 Glaucoma 3, Primary Infantile, B ISO RGD:68549 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glaucoma 3, primary infantile, B PMID:16199547|PMID:17576681|PMID:19361779|PMID:22025892|PMID:23401661|PMID:25741868|PMID:27409795|PMID:28492532|PMID:9536098 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:68550 D RGD:9068941 20230323 RGD mRNA:increased expression:heart (mouse) PMID:31364721|REF_RGD_ID:213230159 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:9007248 Weill-Marchesani Syndrome 3 ISO RGD:68549 D RGD:7240710 20180130 OMIM 12100716 LTBP2 latent transforming growth factor beta binding protein 2 gene DOID:9007248 Weill-Marchesani Syndrome 3 ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 3 PMID:22539340|PMID:23401661|PMID:25741868|PMID:28492532 12100756 SYCP1 synaptonemal complex protein 1 gene DOID:0080690 RASopathy ISO RGD:1347800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12100756 SYCP1 synaptonemal complex protein 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1347800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 12100756 SYCP1 synaptonemal complex protein 1 gene DOID:10941 intracranial aneurysm ISO RGD:1347800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial PMID:25741868|PMID:28492532 12100756 SYCP1 synaptonemal complex protein 1 gene DOID:1793 pancreatic cancer ISO RGD:1347800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14991579 12100756 SYCP1 synaptonemal complex protein 1 gene DOID:299 adenocarcinoma ISO RGD:1347800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14991579 12100756 SYCP1 synaptonemal complex protein 1 gene DOID:630 genetic disease ISO RGD:1347800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100800 C12H6orf47 chromosome 12 C6orf47 homolog gene DOID:0050553 JMP syndrome ISO RGD:1354435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12100800 C12H6orf47 chromosome 12 C6orf47 homolog gene DOID:11372 megacolon ISO RGD:1354435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12100800 C12H6orf47 chromosome 12 C6orf47 homolog gene DOID:630 genetic disease ISO RGD:1354435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100805 LRP11 LDL receptor related protein 11 gene DOID:630 genetic disease ISO RGD:1318469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100816 RLN2 relaxin 2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1348053 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12100816 RLN2 relaxin 2 gene DOID:630 genetic disease ISO RGD:1348053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100816 RLN2 relaxin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348053 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16434975 12100826 FUT9 fucosyltransferase 9 gene DOID:630 genetic disease ISO RGD:732098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100848 KAT2B lysine acetyltransferase 2B gene DOID:0060417 3p deletion syndrome ISO RGD:1314209 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12100848 KAT2B lysine acetyltransferase 2B gene DOID:1612 breast cancer severity ISO RGD:1314209 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:22199269|REF_RGD_ID:9586031 12100848 KAT2B lysine acetyltransferase 2B gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1314209 D RGD:9068941 20200609 RGD mRNA:decreased expression:esophagus (human) PMID:19525977|REF_RGD_ID:9590307 12100848 KAT2B lysine acetyltransferase 2B gene DOID:630 genetic disease ISO RGD:1314209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100848 KAT2B lysine acetyltransferase 2B gene DOID:684 hepatocellular carcinoma severity ISO RGD:1314209 D RGD:9068941 20200609 RGD protein:decreased expression:liver (human) PMID:23643089|REF_RGD_ID:9590314 12100848 KAT2B lysine acetyltransferase 2B gene DOID:7148 rheumatoid arthritis ISO RGD:1314209 D RGD:9068941 20230105 RGD mRNA:increased expression:peripheral blood mononuclear cell PMID:36104638|REF_RGD_ID:155791669 12100848 KAT2B lysine acetyltransferase 2B gene DOID:9000528 Coronary Disease severity ISO RGD:1314209 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-2481G>C (human) PMID:21062767|REF_RGD_ID:9590309 12100875 SLC12A6 solute carrier family 12 member 6 gene DOID:0070015 autosomal recessive dyskeratosis congenita 1 ISO RGD:1322734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 12100875 SLC12A6 solute carrier family 12 member 6 gene DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy ISO RGD:1322734 D RGD:7240710 20180130 OMIM 12100875 SLC12A6 solute carrier family 12 member 6 gene DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy ISO RGD:1322734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy PMID:12368912|PMID:12838516|PMID:16199547|PMID:1660691|PMID:16606917|PMID:17576681|PMID:17893295|PMID:18414213|PMID:18566107|PMID:20020398|PMID:21628467|PMID:23593405|PMID:24341143|PMID:25525159|PMID:25741868|PMID:26392352|PMID:27717089|PMID:28492532|PMID:30038111|PMID:31439721|PMID:9536098 12100875 SLC12A6 solute carrier family 12 member 6 gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:1322734 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 PMID:18458017|PMID:27125413|PMID:28492532 12100875 SLC12A6 solute carrier family 12 member 6 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1322734 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:12368912|PMID:12838516|PMID:16199547|PMID:1660691|PMID:16606917|PMID:17893295|PMID:20020398|PMID:21628467|PMID:23593405|PMID:25525159|PMID:25741868|PMID:28492532|PMID:30038111|PMID:31439721 12100875 SLC12A6 solute carrier family 12 member 6 gene DOID:2477 motor peripheral neuropathy ISO RGD:1322735 D RGD:9068941 20220825 MouseDO 12100875 SLC12A6 solute carrier family 12 member 6 gene DOID:2717 Bloom syndrome ISO RGD:1322734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12100875 SLC12A6 solute carrier family 12 member 6 gene DOID:574 peripheral nervous system disease ISO RGD:1322734 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:27993330|PMID:28492532 12100875 SLC12A6 solute carrier family 12 member 6 gene DOID:630 genetic disease ISO RGD:1322734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12368912|PMID:16606917|PMID:19665974|PMID:24043619|PMID:25741868|PMID:28492532|PMID:28814402|PMID:31439721|PMID:33199848|PMID:33323309|PMID:35733399 12100875 SLC12A6 solute carrier family 12 member 6 gene DOID:870 neuropathy ISO RGD:1322734 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autosomal recessive axonal hereditary motor and sensory neuropathy | ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:27993330|PMID:28492532 12100875 SLC12A6 solute carrier family 12 member 6 gene DOID:9000899 Charcot-Marie-Tooth Disease Axonal Type 2II ISO RGD:1322734 D RGD:7240710 20221012 OMIM 12100875 SLC12A6 solute carrier family 12 member 6 gene DOID:9000899 Charcot-Marie-Tooth Disease Axonal Type 2II ISO RGD:1322734 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2II PMID:16606917|PMID:25741868|PMID:27485015|PMID:28492532|PMID:31439721|PMID:33323309|PMID:35733399 12100875 SLC12A6 solute carrier family 12 member 6 gene DOID:9003133 Hypertelorism ISO RGD:1322734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:12368912|PMID:16606917|PMID:25741868|PMID:28492532 12100875 SLC12A6 solute carrier family 12 member 6 gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:1322734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive 12100875 SLC12A6 solute carrier family 12 member 6 gene DOID:9256 colorectal cancer ISO RGD:1322734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12100914 C35H6orf62 chromosome 35 C6orf62 homolog gene DOID:630 genetic disease ISO RGD:1347069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100926 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:0060041 autism spectrum disorder ISO RGD:731482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12100926 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:731482 D RGD:7240710 20190315 OMIM 12100926 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:731482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 54 PMID:16199547|PMID:17576681|PMID:22678713|PMID:23708187|PMID:25356899|PMID:25741868|PMID:26467025|PMID:27652284|PMID:28166811|PMID:28283832|PMID:28492532|PMID:28815871|PMID:28944577|PMID:29170628|PMID:30866059|PMID:32319732|PMID:32488064|PMID:9536098 12100926 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:731482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 12100926 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:1059 intellectual disability ISO RGD:731482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12100926 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:1540 parathyroid carcinoma ISO RGD:731482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12100926 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:1826 epilepsy ISO RGD:731482 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25326635|PMID:25741868|PMID:28815871 12100926 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:630 genetic disease ISO RGD:731482 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:26845106|PMID:28393272|PMID:28492532 12100926 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:9001793 Generalized Epilepsy ISO RGD:731482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:22678713|PMID:25326635|PMID:25741868|PMID:28283832|PMID:28492532|PMID:28815871 12100926 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:731482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 12100926 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 12100926 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:9005154 Myoclonic Epilepsies ISO RGD:731482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myoclonic absence seizure PMID:25741868|PMID:28492532 12100926 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:9006016 SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS ISO RGD:731482 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, early-onset, with neurodegeneration and brain calcifications PMID:25741868 12100926 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12100926 HNRNPU heterogeneous nuclear ribonucleoprotein U gene DOID:9256 colorectal cancer ISO RGD:731482 D RGD:9068941 20200609 RGD protein:decreased expression:colonic epithelium, nucleus (human) PMID:21194727|REF_RGD_ID:9999439 12100948 SLC35B4 solute carrier family 35 member B4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12100948 SLC35B4 solute carrier family 35 member B4 gene DOID:630 genetic disease ISO RGD:1319077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100962 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:0050545 visceral heterotaxy ISO RGD:1552230 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 12100962 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:0060321 umbilical hernia ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 12100962 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:0080006 bone development disease ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 12100962 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:0080700 caudal regression syndrome ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 12100962 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:0111546 Currarino syndrome ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 12100962 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:10488 imperforate anus ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 12100962 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:11446 sciatic neuropathy ISO RGD:620326 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:nerve: PMID:9729404|REF_RGD_ID:11556234 12100962 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:13938 amenorrhea ISO RGD:732125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12100962 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:14679 VACTERL association ISO RGD:1552230 D RGD:9068941 20200609 RGD DNA:mutation:exon:p.C470R(mouse) PMID:18519639|REF_RGD_ID:11556208 12100962 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:14679 VACTERL association ISO RGD:1552230 D RGD:9068941 20220825 MouseDO OMIM:192350 | OMIM:276950 12100962 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:14679 VACTERL association ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 12100962 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:1657 ventricular septal defect ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 12100962 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:1681 heart septal defect ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 12100962 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:234 colon adenocarcinoma ISO RGD:732125 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon: PMID:19737405|REF_RGD_ID:11556207 12100962 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:557 kidney disease ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 12100962 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:630 genetic disease ISO RGD:732125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12100962 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:850 lung disease ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 12100962 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:9000066 Jaw Abnormalities ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 12100962 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:9001018 Mouth Abnormalities ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 12100962 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:9001471 Anorectal Malformations ISO RGD:1552230 D RGD:9068941 20200609 RGD protein:decreased expression:somite PMID:21480163|REF_RGD_ID:11556204 12100962 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:9006182 Carotid Artery Injuries ISO RGD:620326 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:artery: PMID:12649739|REF_RGD_ID:11556213 12100962 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:9006778 Carotid Atherosclerosis ISO RGD:732125 D RGD:9068941 20200609 RGD protein:increased expression:myofibroblast: PMID:14970114|REF_RGD_ID:11556214 12100962 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:9007794 Lower Extremity Deformities, Congenital ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 12100962 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 12100962 PCSK5 proprotein convertase subtilisin/kexin type 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1552230 D RGD:9068941 20220825 MouseDO 12100962 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:9002245 Intestinal Neoplasms ISO RGD:1552230 D RGD:9068941 20200609 RGD mRNA:decreased expression:intestine: PMID:19737405|REF_RGD_ID:11556207 12101003 JAK2 Janus kinase 2 gene DOID:0060474 familial erythrocytosis 2 ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:21685897|REF_RGD_ID:6483049 12101003 JAK2 Janus kinase 2 gene DOID:0060652 familial erythrocytosis 1 ISO RGD:731748 D RGD:7240710 20180130 OMIM 12101003 JAK2 Janus kinase 2 gene DOID:0060652 familial erythrocytosis 1 ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12101003 JAK2 Janus kinase 2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:731748 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12101003 JAK2 Janus kinase 2 gene DOID:0060903 thrombosis ISO RGD:10823 D RGD:9068941 20200609 RGD associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F (human) PMID:22467227|REF_RGD_ID:15039391 12101003 JAK2 Janus kinase 2 gene DOID:0060903 thrombosis ISO RGD:2939 D RGD:9068941 20200609 RGD associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F (human) PMID:22467227|REF_RGD_ID:15039391 12101003 JAK2 Janus kinase 2 gene DOID:0060903 thrombosis ISO RGD:731748 D RGD:9068941 20200609 RGD associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F (human) PMID:22467227|REF_RGD_ID:15039391 12101003 JAK2 Janus kinase 2 gene DOID:0070004 myeloid neoplasm ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myeloproliferative disorder PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17267906|PMID:17989398|PMID:18256599|PMID:18394554|PMID:18805579|PMID:19036091|PMID:19287384|PMID:19293426|PMID:19470474|PMID:20339092|PMID:20585391|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22368270|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:22955920|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12101003 JAK2 Janus kinase 2 gene DOID:0070004 myeloid neoplasm no_association ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs12342421) (human) PMID:23845539|REF_RGD_ID:10449376 12101003 JAK2 Janus kinase 2 gene DOID:0070004 myeloid neoplasm severity ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V617F (human) PMID:15858187|REF_RGD_ID:10449393 12101003 JAK2 Janus kinase 2 gene DOID:0070113 Niemann-Pick disease type C1 treatment ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:21176403|REF_RGD_ID:10403054 12101003 JAK2 Janus kinase 2 gene DOID:0080199 colorectal carcinoma treatment ISO RGD:2939 D RGD:9068941 20210611 RGD PMID:29229353|REF_RGD_ID:127284843 12101003 JAK2 Janus kinase 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:18782535|REF_RGD_ID:6483030 12101003 JAK2 Janus kinase 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 12101003 JAK2 Janus kinase 2 gene DOID:0080547 non-alcoholic steatohepatitis ameliorates ISO RGD:10823 D RGD:9068941 20210702 RGD PMID:28100771|REF_RGD_ID:127285675 12101003 JAK2 Janus kinase 2 gene DOID:0080600 COVID-19 ISO RGD:731748 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12101003 JAK2 Janus kinase 2 gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12101003 JAK2 Janus kinase 2 gene DOID:10534 stomach cancer ISO RGD:731748 D RGD:9068941 20210528 RGD associated with Helicobacter Infections; protein:increased expression:stomach (human) PMID:24718681|REF_RGD_ID:126928128 12101003 JAK2 Janus kinase 2 gene DOID:10534 stomach cancer susceptibility ISO RGD:731748 D RGD:9068941 20210528 RGD DNA:SNPs:exon, promoter: (rs2230724, rs1887427) (human) PMID:23717640|REF_RGD_ID:126925979 12101003 JAK2 Janus kinase 2 gene DOID:10534 stomach cancer treatment ISO RGD:731748 D RGD:9068941 20210625 RGD human cells in mouse model PMID:29408335|PMID:32106377|REF_RGD_ID:127284846|REF_RGD_ID:127284886 12101003 JAK2 Janus kinase 2 gene DOID:10603 glucose intolerance treatment ISO RGD:10823 D RGD:9068941 20200609 RGD associated with Alzheimer Disease PMID:23223021|REF_RGD_ID:10403052 12101003 JAK2 Janus kinase 2 gene DOID:10652 Alzheimer's disease treatment ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:18813209|REF_RGD_ID:10403051 12101003 JAK2 Janus kinase 2 gene DOID:10762 portal hypertension severity ISO RGD:10823 D RGD:9068941 20200609 RGD associated with liver cirrhosis PMID:26385087|REF_RGD_ID:18337263 12101003 JAK2 Janus kinase 2 gene DOID:10762 portal hypertension severity ISO RGD:2939 D RGD:9068941 20200609 RGD associated with liver cirrhosis PMID:26385087|REF_RGD_ID:18337263 12101003 JAK2 Janus kinase 2 gene DOID:10762 portal hypertension severity ISO RGD:731748 D RGD:9068941 20200609 RGD associated with liver cirrhosis PMID:26385087|REF_RGD_ID:18337263 12101003 JAK2 Janus kinase 2 gene DOID:11054 urinary bladder cancer ISO RGD:731748 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 12101003 JAK2 Janus kinase 2 gene DOID:1107 esophageal carcinoma treatment ISO RGD:731748 D RGD:9068941 20210625 RGD associated with Immune Deficiency Disease, human cells in mouse model PMID:25724470|REF_RGD_ID:127285656 12101003 JAK2 Janus kinase 2 gene DOID:114 heart disease treatment ISO RGD:2939 D RGD:9068941 20200609 RGD associated with Shock, Septic PMID:23404057|REF_RGD_ID:8694329 12101003 JAK2 Janus kinase 2 gene DOID:11512 Budd-Chiari syndrome ISO RGD:731748 D RGD:7240710 20180130 OMIM 12101003 JAK2 Janus kinase 2 gene DOID:11512 Budd-Chiari syndrome ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Budd-Chiari syndrome PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12101003 JAK2 Janus kinase 2 gene DOID:1184 nephrotic syndrome ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:17823504|REF_RGD_ID:6483037 12101003 JAK2 Janus kinase 2 gene DOID:12236 primary biliary cholangitis treatment ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:24619965|REF_RGD_ID:10403061 12101003 JAK2 Janus kinase 2 gene DOID:1240 leukemia ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19636672 12101003 JAK2 Janus kinase 2 gene DOID:1240 leukemia ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:9326218|REF_RGD_ID:10450609 12101003 JAK2 Janus kinase 2 gene DOID:13252 mesenteric vascular occlusion ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20434300 12101003 JAK2 Janus kinase 2 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:731748 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased tyrosine phosphorylation:liver PMID:24619965|REF_RGD_ID:10403061 12101003 JAK2 Janus kinase 2 gene DOID:1577 limited scleroderma ISO RGD:731748 D RGD:9068941 20200609 RGD PMID:20808962|REF_RGD_ID:4892610 12101003 JAK2 Janus kinase 2 gene DOID:182 calcinosis ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12101003 JAK2 Janus kinase 2 gene DOID:1920 hyperuricemia treatment ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:23442673|REF_RGD_ID:10411892 12101003 JAK2 Janus kinase 2 gene DOID:219 colon cancer treatment ISO RGD:2939 D RGD:9068941 20210611 RGD PMID:33360052|REF_RGD_ID:127229954 12101003 JAK2 Janus kinase 2 gene DOID:2224 essential thrombocythemia ISO RGD:10823 D RGD:9068941 20220825 MouseDO OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521 12101003 JAK2 Janus kinase 2 gene DOID:2224 essential thrombocythemia ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15781101|PMID:15858187|PMID:16484586|PMID:16896569|PMID:19154659|PMID:19636672|PMID:20434300|PMID:21942426 12101003 JAK2 Janus kinase 2 gene DOID:2224 essential thrombocythemia severity ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:mutation: :p.V617F (human) PMID:23130336|REF_RGD_ID:10449178 12101003 JAK2 Janus kinase 2 gene DOID:2226 myeloproliferative neoplasm ISO RGD:10823 D RGD:9068941 20220825 MouseDO 12101003 JAK2 Janus kinase 2 gene DOID:2228 thrombocytosis ISO RGD:10823 D RGD:9068941 20200609 RGD associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F PMID:22467227|REF_RGD_ID:15039391 12101003 JAK2 Janus kinase 2 gene DOID:2228 thrombocytosis ISO RGD:2939 D RGD:9068941 20200609 RGD associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F PMID:22467227|REF_RGD_ID:15039391 12101003 JAK2 Janus kinase 2 gene DOID:2228 thrombocytosis ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19287382|PMID:19287384 12101003 JAK2 Janus kinase 2 gene DOID:2228 thrombocytosis ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:point mutations: :p.S755R, p.R938Q (human) PMID:24398328|REF_RGD_ID:10449375 12101003 JAK2 Janus kinase 2 gene DOID:2228 thrombocytosis ISO RGD:731748 D RGD:9068941 20200609 RGD associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F PMID:22467227|REF_RGD_ID:15039391 12101003 JAK2 Janus kinase 2 gene DOID:2228 thrombocytosis ISO RGD:731748 D RGD:9068941 20200609 RGD essential thrombocythemia, OMIM:187950; DNA:transversion:CDS:1849G>T, amino acid V617F PMID:15781101|REF_RGD_ID:1627655 12101003 JAK2 Janus kinase 2 gene DOID:224 transient cerebral ischemia ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:23764464|REF_RGD_ID:8694326 12101003 JAK2 Janus kinase 2 gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:731748 D RGD:9068941 20210625 RGD human cells in mouse model PMID:22050790|REF_RGD_ID:127285665 12101003 JAK2 Janus kinase 2 gene DOID:234 colon adenocarcinoma treatment ISO RGD:731748 D RGD:9068941 20210409 RGD Human cell in mouse model PMID:32504672|REF_RGD_ID:125097526 12101003 JAK2 Janus kinase 2 gene DOID:2355 anemia ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:9590174|REF_RGD_ID:737719 12101003 JAK2 Janus kinase 2 gene DOID:3021 acute kidney failure treatment ISO RGD:10823 D RGD:9068941 20210723 RGD associated with Carcinoma, Lewis Lung, human cells in mouse model PMID:31250048|REF_RGD_ID:149735351 12101003 JAK2 Janus kinase 2 gene DOID:3571 liver cancer severity ISO RGD:731748 D RGD:9068941 20200609 RGD mRNA:increased expression:liver,serum (human) PMID:27788478|REF_RGD_ID:18182929 12101003 JAK2 Janus kinase 2 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:731748 D RGD:9068941 20210702 RGD protein:increased phosphorylation:esophagus squamous epithelium (human) PMID:32158193|REF_RGD_ID:127285669 12101003 JAK2 Janus kinase 2 gene DOID:3905 lung carcinoma treatment ISO RGD:731748 D RGD:9068941 20210723 RGD human cells in mouse model PMID:26397387|REF_RGD_ID:11529462 12101003 JAK2 Janus kinase 2 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:731748 D RGD:9068941 20210716 RGD human cells in mouse model PMID:21325979|PMID:25869210|REF_RGD_ID:149735332|REF_RGD_ID:149735342 12101003 JAK2 Janus kinase 2 gene DOID:3910 lung adenocarcinoma treatment ISO RGD:731748 D RGD:9068941 20210716 RGD human cells in mouse model PMID:27025877|REF_RGD_ID:11574134 12101003 JAK2 Janus kinase 2 gene DOID:3948 adrenocortical carcinoma ISO RGD:731748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 12101003 JAK2 Janus kinase 2 gene DOID:4033 bacterial gastritis ISO RGD:731748 D RGD:9068941 20210528 RGD protein:increased expression:stomach (human) PMID:24718681|REF_RGD_ID:126928128 12101003 JAK2 Janus kinase 2 gene DOID:4079 heart valve disease ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12101003 JAK2 Janus kinase 2 gene DOID:4971 myelofibrosis ISO RGD:731748 D RGD:7240710 20180130 OMIM 12101003 JAK2 Janus kinase 2 gene DOID:4971 myelofibrosis ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelofibrosis, somatic PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12101003 JAK2 Janus kinase 2 gene DOID:4971 myelofibrosis treatment ISO RGD:731748 D RGD:9068941 20200609 RGD PMID:22796437|REF_RGD_ID:10449377 12101003 JAK2 Janus kinase 2 gene DOID:5082 liver cirrhosis severity ISO RGD:10823 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:26385087|REF_RGD_ID:18337263 12101003 JAK2 Janus kinase 2 gene DOID:5082 liver cirrhosis severity ISO RGD:2939 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:26385087|REF_RGD_ID:18337263 12101003 JAK2 Janus kinase 2 gene DOID:5082 liver cirrhosis severity ISO RGD:731748 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:26385087|REF_RGD_ID:18337263 12101003 JAK2 Janus kinase 2 gene DOID:5327 retinal detachment ISO RGD:2939 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:retina PMID:22251399|REF_RGD_ID:10411890 12101003 JAK2 Janus kinase 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:731748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary Ovarian Insufficiency PMID:25741868 12101003 JAK2 Janus kinase 2 gene DOID:5434 scrapie ISO RGD:10823 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17897356|REF_RGD_ID:6483034 12101003 JAK2 Janus kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:731748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12101003 JAK2 Janus kinase 2 gene DOID:5844 myocardial infarction susceptibility ISO RGD:2939 D RGD:9068941 20200609 RGD associated with Myocardial Reperfusion Injury PMID:22749532|REF_RGD_ID:10403083 12101003 JAK2 Janus kinase 2 gene DOID:630 genetic disease ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12101003 JAK2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:10823 D RGD:9068941 20210625 RGD associated with Diseases of the Aged and non-alcoholic fatty liver disease PMID:31393852|REF_RGD_ID:127285655 12101003 JAK2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:10823 D RGD:9068941 20210625 RGD protein:increased phosphorylation:liver (mouse) PMID:22821478|REF_RGD_ID:127285621 12101003 JAK2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:10823 D RGD:9068941 20210702 RGD L-JAK2 KO PMID:28100771|REF_RGD_ID:127285675 12101003 JAK2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:731748 D RGD:9068941 20210528 RGD protein:increased phosphorylation:liver (human) PMID:22392353|REF_RGD_ID:125097525 12101003 JAK2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:10823 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:25420511|REF_RGD_ID:18182928 12101003 JAK2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:2939 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:25420511|REF_RGD_ID:18182928 12101003 JAK2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:731748 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:25420511|REF_RGD_ID:18182928 12101003 JAK2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2939 D RGD:9068941 20210716 RGD PMID:29486150|REF_RGD_ID:127285672 12101003 JAK2 Janus kinase 2 gene DOID:7147 ankylosing spondylitis susceptibility ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) PMID:20627814|REF_RGD_ID:6483025 12101003 JAK2 Janus kinase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:21510883|REF_RGD_ID:6483024 12101003 JAK2 Janus kinase 2 gene DOID:8432 polycythemia IAGP D RGD:12801476 20210603 OMIA Polycythemia PMID:13610760|PMID:9348498|PMID:9528346|PMID:21320566 12101003 JAK2 Janus kinase 2 gene DOID:8432 polycythemia ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12101003 JAK2 Janus kinase 2 gene DOID:8552 chronic myeloid leukemia ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12101003 JAK2 Janus kinase 2 gene DOID:8577 ulcerative colitis ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799|PMID:21297633 12101003 JAK2 Janus kinase 2 gene DOID:8577 ulcerative colitis ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:SNP: :rs10758669 (human) PMID:22269120|REF_RGD_ID:6483020 12101003 JAK2 Janus kinase 2 gene DOID:8778 Crohn's disease ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:SNP: :rs10758669 (human) PMID:22269120|REF_RGD_ID:6483020 12101003 JAK2 Janus kinase 2 gene DOID:8997 polycythemia vera ISO RGD:731748 D RGD:7240710 20180130 OMIM 12101003 JAK2 Janus kinase 2 gene DOID:8997 polycythemia vera ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polycythemia rubra vera PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12101003 JAK2 Janus kinase 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:23274522|REF_RGD_ID:10411896 12101003 JAK2 Janus kinase 2 gene DOID:9000099 Experimental Colitis treatment ISO RGD:2939 D RGD:9068941 20220623 RGD PMID:29572553|REF_RGD_ID:152995414 12101003 JAK2 Janus kinase 2 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29047144 12101003 JAK2 Janus kinase 2 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:731748 D RGD:9068941 20210611 RGD associated with stomach cancer, human cells in mouse model PMID:28186964|REF_RGD_ID:127229952 12101003 JAK2 Janus kinase 2 gene DOID:9000998 Brain Injuries ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:21596098|REF_RGD_ID:6483023 12101003 JAK2 Janus kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:10823 D RGD:9068941 20200609 RGD protein:increased expression, increased tyrosine phosphorylation:liver PMID:24619965|REF_RGD_ID:10403061 12101003 JAK2 Janus kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2939 D RGD:9068941 20200609 RGD protein:increased expression, increased tyrosine phosphorylation:liver PMID:24619965|REF_RGD_ID:10403061 12101003 JAK2 Janus kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12101003 JAK2 Janus kinase 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 12101003 JAK2 Janus kinase 2 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:22288937|REF_RGD_ID:10403073 12101003 JAK2 Janus kinase 2 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2939 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22745068|REF_RGD_ID:10403082 12101003 JAK2 Janus kinase 2 gene DOID:9002211 Hyperalgesia ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:18636982|REF_RGD_ID:6483031 12101003 JAK2 Janus kinase 2 gene DOID:9002211 Hyperalgesia treatment ISO RGD:10823 D RGD:9068941 20200609 RGD associated with Diabetic Neuropathies PMID:23511693|REF_RGD_ID:10403050 12101003 JAK2 Janus kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12101003 JAK2 Janus kinase 2 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:22339472|REF_RGD_ID:10403066 12101003 JAK2 Janus kinase 2 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:22800927|PMID:23711144|REF_RGD_ID:10403074|REF_RGD_ID:10403081 12101003 JAK2 Janus kinase 2 gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:731748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features PMID:18805579|PMID:19470474|PMID:20585391|PMID:22368270|PMID:22955920 12101003 JAK2 Janus kinase 2 gene DOID:9002720 Splenomegaly ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enlarged Spleen PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12101003 JAK2 Janus kinase 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:22066025|REF_RGD_ID:6483041 12101003 JAK2 Janus kinase 2 gene DOID:9003121 Thromboembolism ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19636672 12101003 JAK2 Janus kinase 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17989398 12101003 JAK2 Janus kinase 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27470402 12101003 JAK2 Janus kinase 2 gene DOID:9003871 Venous Thrombosis ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20434300 12101003 JAK2 Janus kinase 2 gene DOID:9003871 Venous Thrombosis ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs12342421, rs12343867 (human) PMID:23845539|REF_RGD_ID:10449376 12101003 JAK2 Janus kinase 2 gene DOID:9003871 Venous Thrombosis ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:mutation: :p.V617F (human) PMID:17059429|REF_RGD_ID:10449391 12101003 JAK2 Janus kinase 2 gene DOID:9003871 Venous Thrombosis no_association ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:SNP: :rs10974944 (human) PMID:23845539|REF_RGD_ID:10449376 12101003 JAK2 Janus kinase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:20440769|REF_RGD_ID:6483026 12101003 JAK2 Janus kinase 2 gene DOID:9004276 Thrombocythemia 3 ISO RGD:731748 D RGD:7240710 20180130 OMIM 12101003 JAK2 Janus kinase 2 gene DOID:9004276 Thrombocythemia 3 ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: THROMBOCYTOSIS 3 | ClinVar Annotator: match by term: Thrombocythemia 3 PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:30811597|PMID:32581362 12101003 JAK2 Janus kinase 2 gene DOID:9004484 Sepsis treatment ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:24228589|REF_RGD_ID:10411888 12101003 JAK2 Janus kinase 2 gene DOID:9004702 Pregnancy Complications ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19636672 12101003 JAK2 Janus kinase 2 gene DOID:9005372 Inflammation ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20943775 12101003 JAK2 Janus kinase 2 gene DOID:9006101 Primary Ovarian Failure ISO RGD:731748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ovarian failure PMID:25741868 12101003 JAK2 Janus kinase 2 gene DOID:9006257 Growth Disorders ISO RGD:2939 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic;protein:decreased expression:epiphyseal plate PMID:23715123|REF_RGD_ID:10403065 12101003 JAK2 Janus kinase 2 gene DOID:9007096 Stroke ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:18079966|REF_RGD_ID:6483032 12101003 JAK2 Janus kinase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15746188|PMID:16214533 12101003 JAK2 Janus kinase 2 gene DOID:9007346 Cachexia treatment ISO RGD:10823 D RGD:9068941 20210709 RGD associated with colon adenocarcinoma PMID:28489606|REF_RGD_ID:127285673 12101003 JAK2 Janus kinase 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:731748 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:35568132 12101003 JAK2 Janus kinase 2 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:22777122|REF_RGD_ID:10403072 12101003 JAK2 Janus kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:23796350|REF_RGD_ID:8694332 12101003 JAK2 Janus kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2939 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23747931|REF_RGD_ID:10403071 12101003 JAK2 Janus kinase 2 gene DOID:9007842 Sepsis-Associated Encephalopathy treatment ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:23236988|REF_RGD_ID:10403076 12101003 JAK2 Janus kinase 2 gene DOID:9008104 Cancer Pain treatment ISO RGD:2939 D RGD:9068941 20210716 RGD PMID:30027795|REF_RGD_ID:149735350 12101003 JAK2 Janus kinase 2 gene DOID:9008691 Liver Injury treatment ISO RGD:2939 D RGD:9068941 20200609 RGD associated with Pancreatitis, Acute PMID:24161994|REF_RGD_ID:8694328 12101003 JAK2 Janus kinase 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:21880982|REF_RGD_ID:6483022 12101003 JAK2 Janus kinase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:731748 D RGD:7240710 20180130 OMIM 12101003 JAK2 Janus kinase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12101003 JAK2 Janus kinase 2 gene DOID:9261 nasopharynx carcinoma severity ISO RGD:731748 D RGD:9068941 20210716 RGD protein:increased expression:mucosa of nasopharynx (human) PMID:30123088|REF_RGD_ID:149735327 12101003 JAK2 Janus kinase 2 gene DOID:9452 fatty liver disease ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:22275361|REF_RGD_ID:6483019 12101003 JAK2 Janus kinase 2 gene DOID:9970 obesity ISO RGD:2939 D RGD:9068941 20200609 RGD protein:decreased expression:hypothalamus PMID:23397595|REF_RGD_ID:10411893 12101003 JAK2 Janus kinase 2 gene DOID:9970 obesity ISO RGD:731748 D RGD:9068941 20200609 RGD mRNA:decreased expression:omental adipose tissue:by microarray PMID:14630696|REF_RGD_ID:1627661 12101003 Jak2 Janus kinase 2 gene DOID:3571 liver cancer severity ISO RGD:10823 D RGD:9068941 20200609 RGD mRNA:increased expression:liver,serum (human) PMID:27788478|REF_RGD_ID:18182929 12101003 Jak2 Janus kinase 2 gene DOID:3571 liver cancer severity ISO RGD:2939 D RGD:9068941 20200609 RGD mRNA:increased expression:liver,serum (human) PMID:27788478|REF_RGD_ID:18182929 12101035 CRACR2A calcium release activated channel regulator 2A gene DOID:630 genetic disease ISO RGD:1603191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101035 CRACR2A calcium release activated channel regulator 2A gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12101076 MAD2L2 mitotic arrest deficient 2 like 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1316729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12101076 MAD2L2 mitotic arrest deficient 2 like 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1316729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12101076 MAD2L2 mitotic arrest deficient 2 like 2 gene DOID:0111080 Fanconi anemia complementation group V ISO RGD:1316729 D RGD:7240710 20190315 OMIM 12101076 MAD2L2 mitotic arrest deficient 2 like 2 gene DOID:0111080 Fanconi anemia complementation group V ISO RGD:1316729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group V PMID:27500492 12101076 MAD2L2 mitotic arrest deficient 2 like 2 gene DOID:630 genetic disease ISO RGD:1316729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101076 MAD2L2 mitotic arrest deficient 2 like 2 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1316729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 12101090 SV2C synaptic vesicle glycoprotein 2C gene DOID:12377 spinal muscular atrophy ISO RGD:1551020 D RGD:9068941 20211203 RGD protein:decreased expression:transversus abdominis muscle, axon terminus (mouse) PMID:28173138|REF_RGD_ID:11535337 12101090 SV2C synaptic vesicle glycoprotein 2C gene DOID:630 genetic disease ISO RGD:1346779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101090 SV2C synaptic vesicle glycoprotein 2C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12101113 DESI2 desumoylating isopeptidase 2 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1603047 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12101113 DESI2 desumoylating isopeptidase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1603047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12101113 DESI2 desumoylating isopeptidase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1603047 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21667029 12101113 DESI2 desumoylating isopeptidase 2 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1603047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 12101113 DESI2 desumoylating isopeptidase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12101128 CEP128 centrosomal protein 128 gene DOID:0070126 congenital nongoitrous hypothyroidism 1 ISO RGD:1344060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 PMID:10037069|PMID:12050212|PMID:16060907|PMID:17062880|PMID:17705697|PMID:18727713|PMID:1955520|PMID:21186955|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30372544|PMID:8964822|PMID:9385128 12101128 CEP128 centrosomal protein 128 gene DOID:0081101 nonautoimmune hyperthyroidism ISO RGD:1344060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperthyroidism, nonautoimmune PMID:10037069|PMID:12050212|PMID:16060907|PMID:17062880|PMID:17705697|PMID:18727713|PMID:1955520|PMID:21186955|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30372544|PMID:8964822|PMID:9385128 12101128 CEP128 centrosomal protein 128 gene DOID:0081102 familial gestational hyperthyroidism ISO RGD:1344060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial gestational hyperthyroidism PMID:24728327|PMID:25741868 12101128 CEP128 centrosomal protein 128 gene DOID:1826 epilepsy ISO RGD:1344060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure disorder PMID:12050212|PMID:25741868|PMID:8964822 12101128 CEP128 centrosomal protein 128 gene DOID:630 genetic disease ISO RGD:1344060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16060907|PMID:17705697|PMID:18727713|PMID:21186955|PMID:28492532|PMID:30372544 12101128 CEP128 centrosomal protein 128 gene DOID:9000591 Congenital Nongoitrous Hypothyroidism ISO RGD:1344060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TSH RESISTANCE PMID:10037069|PMID:12050212|PMID:16060907|PMID:17062880|PMID:17705697|PMID:18727713|PMID:1955520|PMID:21186955|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30372544|PMID:8964822|PMID:9385128 12101128 CEP128 centrosomal protein 128 gene DOID:9008086 Developmental Disabilities ISO RGD:1344060 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:12050212|PMID:25741868|PMID:8964822 12101174 FZD2 frizzled class receptor 2 gene DOID:0060765 autosomal dominant Robinow syndrome 2 ISO RGD:732091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 PMID:25741868|PMID:25759469|PMID:28492532|PMID:29276006|PMID:30455931 12101174 FZD2 frizzled class receptor 2 gene DOID:0060766 autosomal dominant Robinow syndrome 1 ISO RGD:732091 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 PMID:25741868|PMID:25759469|PMID:29276006|PMID:30455931 12101174 FZD2 frizzled class receptor 2 gene DOID:0060767 autosomal dominant Robinow syndrome 3 ISO RGD:732091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 PMID:29276006 12101174 FZD2 frizzled class receptor 2 gene DOID:0080600 COVID-19 ISO RGD:732091 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12101174 FZD2 frizzled class receptor 2 gene DOID:0080845 omodysplasia 2 ISO RGD:732091 D RGD:7240710 20190315 OMIM 12101174 FZD2 frizzled class receptor 2 gene DOID:0080845 omodysplasia 2 ISO RGD:732091 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant omodysplasia PMID:25741868|PMID:25759469|PMID:30455931 12101174 FZD2 frizzled class receptor 2 gene DOID:10126 keratoconus ISO RGD:732091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Keratoconus PMID:28492532 12101174 FZD2 frizzled class receptor 2 gene DOID:127 leiomyoma ISO RGD:732091 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myometrium PMID:12909487|REF_RGD_ID:2298700 12101174 FZD2 frizzled class receptor 2 gene DOID:3459 breast carcinoma ISO RGD:732091 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15492823|REF_RGD_ID:2298699 12101174 FZD2 frizzled class receptor 2 gene DOID:5844 myocardial infarction ISO RGD:71012 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:9142123|REF_RGD_ID:4107058 12101174 FZD2 frizzled class receptor 2 gene DOID:630 genetic disease ISO RGD:732091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12101174 FZD2 frizzled class receptor 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:732091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21188121 12101174 FZD2 frizzled class receptor 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:71012 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:8762054|REF_RGD_ID:4107053 12101174 FZD2 frizzled class receptor 2 gene DOID:9007661 Dwarfism ISO RGD:732091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:28492532 12101181 PSMC3IP PSMC3 interacting protein gene DOID:0080495 ovarian dysgenesis 3 ISO RGD:730859 D RGD:7240710 20180130 OMIM 12101181 PSMC3IP PSMC3 interacting protein gene DOID:0080495 ovarian dysgenesis 3 ISO RGD:730859 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 3 PMID:25741868|PMID:28492532|PMID:31042289 12101181 PSMC3IP PSMC3 interacting protein gene DOID:0111394 mucopolysaccharidosis type IIIB ISO RGD:730859 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B PMID:28492532 12101181 PSMC3IP PSMC3 interacting protein gene DOID:630 genetic disease ISO RGD:730859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12101181 PSMC3IP PSMC3 interacting protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:730859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12101206 NRSN2 neurensin 2 gene DOID:630 genetic disease ISO RGD:1313267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101206 NRSN2 neurensin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12101219 TAGLN2 transgelin 2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1321972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12101219 TAGLN2 transgelin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1321972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12101219 TAGLN2 transgelin 2 gene DOID:4450 renal cell carcinoma ISO RGD:1321972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 12101219 TAGLN2 transgelin 2 gene DOID:5082 liver cirrhosis ISO RGD:1321972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12101219 TAGLN2 transgelin 2 gene DOID:630 genetic disease ISO RGD:1321972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101219 TAGLN2 transgelin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1321972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12101219 TAGLN2 transgelin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1321972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12101219 TAGLN2 transgelin 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12101219 TAGLN2 transgelin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12101228 CYB561D1 cytochrome b561 family member D1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1321956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12101228 CYB561D1 cytochrome b561 family member D1 gene DOID:12849 autistic disorder ISO RGD:1321956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12101228 CYB561D1 cytochrome b561 family member D1 gene DOID:630 genetic disease ISO RGD:1321956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101235 ARK2N arkadia (RNF111) N-terminal like PKA signaling regulator 2N gene DOID:0060356 Vici syndrome ISO RGD:1318467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 12101235 ARK2N arkadia (RNF111) N-terminal like PKA signaling regulator 2N gene DOID:1059 intellectual disability ISO RGD:1318467 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12101235 ARK2N arkadia (RNF111) N-terminal like PKA signaling regulator 2N gene DOID:630 genetic disease ISO RGD:1318467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101235 ARK2N arkadia (RNF111) N-terminal like PKA signaling regulator 2N gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1318467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 12101253 OR4L1 olfactory receptor family 4 subfamily L member 1 gene DOID:630 genetic disease ISO RGD:1349097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101259 INTS1 integrator complex subunit 1 gene DOID:0070346 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies ISO RGD:1606801 D RGD:7240710 20191016 OMIM 12101259 INTS1 integrator complex subunit 1 gene DOID:0070346 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies ISO RGD:1606801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies PMID:16199547|PMID:25741868|PMID:28492532|PMID:28542170|PMID:28763441|PMID:30622326|PMID:31428919 12101259 INTS1 integrator complex subunit 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1606801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome 12101259 INTS1 integrator complex subunit 1 gene DOID:630 genetic disease ISO RGD:1606801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30622326 12101317 DUSP28 dual specificity phosphatase 28 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1605823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12101317 DUSP28 dual specificity phosphatase 28 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1605823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12101317 DUSP28 dual specificity phosphatase 28 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1605823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 12101317 DUSP28 dual specificity phosphatase 28 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1605823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12101317 DUSP28 dual specificity phosphatase 28 gene DOID:1059 intellectual disability ISO RGD:1605823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12101317 DUSP28 dual specificity phosphatase 28 gene DOID:2377 multiple sclerosis ISO RGD:1605823 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 12101317 DUSP28 dual specificity phosphatase 28 gene DOID:630 genetic disease ISO RGD:1605823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101317 DUSP28 dual specificity phosphatase 28 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1605823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12101323 KMT2B lysine methyltransferase 2B gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1605411 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:22713656|REF_RGD_ID:9588601 12101323 KMT2B lysine methyltransferase 2B gene DOID:0060041 autism spectrum disorder ISO RGD:1605411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12101323 KMT2B lysine methyltransferase 2B gene DOID:0110222 Brugada syndrome 5 ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12101323 KMT2B lysine methyltransferase 2B gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12101323 KMT2B lysine methyltransferase 2B gene DOID:0111152 multicentric Castleman disease ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TAFRO syndrome 12101323 KMT2B lysine methyltransferase 2B gene DOID:10283 prostate cancer ISO RGD:1605411 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland (human) PMID:24200674|REF_RGD_ID:9587761 12101323 KMT2B lysine methyltransferase 2B gene DOID:1059 intellectual disability ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12101323 KMT2B lysine methyltransferase 2B gene DOID:12849 autistic disorder ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12101323 KMT2B lysine methyltransferase 2B gene DOID:13580 cholestasis ISO RGD:1623920 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (mouse) PMID:21330447|REF_RGD_ID:9588602 12101323 KMT2B lysine methyltransferase 2B gene DOID:1612 breast cancer severity ISO RGD:1605411 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:24491801|REF_RGD_ID:9588564 12101323 KMT2B lysine methyltransferase 2B gene DOID:543 dystonia ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362|PMID:33150406 12101323 KMT2B lysine methyltransferase 2B gene DOID:630 genetic disease ISO RGD:1605411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25405613|PMID:25741868|PMID:27839873|PMID:27992417|PMID:28492532|PMID:31216378 12101323 KMT2B lysine methyltransferase 2B gene DOID:684 hepatocellular carcinoma ISO RGD:1605411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22634754 12101323 KMT2B lysine methyltransferase 2B gene DOID:684 hepatocellular carcinoma ISO RGD:1605411 D RGD:9068941 20200609 RGD DNA:insertions, translocations:intron:IVS3, multiple (human) PMID:18320596|REF_RGD_ID:9588597 12101323 KMT2B lysine methyltransferase 2B gene DOID:9000965 Neoplasm Metastasis ISO RGD:1605411 D RGD:9068941 20211119 RGD associated with lung adenocarcinoma PMID:33291558|REF_RGD_ID:150429741 12101323 KMT2B lysine methyltransferase 2B gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1605411 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:28492532|PMID:29255178 12101323 KMT2B lysine methyltransferase 2B gene DOID:9001722 Dysarthria ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysarthria PMID:25741868|PMID:27992417|PMID:32581362 12101323 KMT2B lysine methyltransferase 2B gene DOID:9004049 Dystonia 28, Childhood-onset ISO RGD:1605411 D RGD:7240710 20190315 OMIM 12101323 KMT2B lysine methyltransferase 2B gene DOID:9004049 Dystonia 28, Childhood-onset ISO RGD:1605411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia 28, childhood-onset PMID:25741868|PMID:25741878|PMID:27839873|PMID:27992417|PMID:28492532|PMID:28520167|PMID:29697234|PMID:31216378|PMID:32581362|PMID:32860008|PMID:33098801|PMID:33619735 12101323 KMT2B lysine methyltransferase 2B gene DOID:9005196 Autosomal Dominant Intellectual Developmental Disorder 68 ISO RGD:1605411 D RGD:7240710 20220720 OMIM 12101323 KMT2B lysine methyltransferase 2B gene DOID:9005196 Autosomal Dominant Intellectual Developmental Disorder 68 ISO RGD:1605411 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 68 PMID:25741868 12101323 KMT2B lysine methyltransferase 2B gene DOID:9008086 Developmental Disabilities ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741878 12101323 KMT2B lysine methyltransferase 2B gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1623920 D RGD:9068941 20200609 RGD PMID:25079327|REF_RGD_ID:9588599 12101363 NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1321815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:22277967|PMID:22499348|PMID:25741868|PMID:26467025|PMID:27091925|PMID:28492532|PMID:31000363 12101363 NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1321815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12101363 NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1321815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12101363 NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:0112067 nuclear type mitochondrial complex I deficiency 25 ISO RGD:1321815 D RGD:7240710 20190315 OMIM 12101363 NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:0112067 nuclear type mitochondrial complex I deficiency 25 ISO RGD:1321815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 PMID:22277967|PMID:22499348|PMID:25741868|PMID:26467025|PMID:26795593|PMID:27091925|PMID:28492532|PMID:31000363 12101363 NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:10652 Alzheimer's disease ISO RGD:1321815 D RGD:9068941 20200609 RGD PMID:28474567|REF_RGD_ID:13792588 12101363 NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:1826 epilepsy ISO RGD:1321815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12101363 NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:630 genetic disease ISO RGD:1321815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22277967|PMID:22499348|PMID:25741868|PMID:26467025|PMID:26795593|PMID:27091925|PMID:28492532|PMID:31000363 12101363 NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:83 cataract ISO RGD:1321815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 12101363 NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1321815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12101363 NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12101363 NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1321815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12101370 RGMA repulsive guidance molecule BMP co-receptor a gene DOID:11446 sciatic neuropathy ISO RGD:1311983 D RGD:9068941 20200609 RGD PMID:16863689|REF_RGD_ID:9850145 12101370 RGMA repulsive guidance molecule BMP co-receptor a gene DOID:2377 multiple sclerosis ISO RGD:1323724 D RGD:9068941 20200609 RGD DNA:SNPs:intron: (rs997941, rs34925346) (human) PMID:20072140|REF_RGD_ID:6892695 12101370 RGMA repulsive guidance molecule BMP co-receptor a gene DOID:3328 temporal lobe epilepsy ISO RGD:1311983 D RGD:9068941 20200609 RGD protein:decreased expression:CA3 field of hippocampus PMID:25420768|REF_RGD_ID:9850144 12101370 RGMA repulsive guidance molecule BMP co-receptor a gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1311983 D RGD:9068941 20200609 RGD PMID:21840379|PMID:23275173|REF_RGD_ID:9850121|REF_RGD_ID:9850122 12101370 RGMA repulsive guidance molecule BMP co-receptor a gene DOID:630 genetic disease ISO RGD:1323724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101370 RGMA repulsive guidance molecule BMP co-receptor a gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1311983 D RGD:9068941 20200609 RGD PMID:16585268|REF_RGD_ID:9850138 12101370 RGMA repulsive guidance molecule BMP co-receptor a gene DOID:9002560 Penetrating Eye Injuries ISO RGD:1311983 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:21887516|REF_RGD_ID:9850142 12101384 HEBP2 heme binding protein 2 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1323071 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12101384 HEBP2 heme binding protein 2 gene DOID:10283 prostate cancer ISO RGD:1323071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12101384 HEBP2 heme binding protein 2 gene DOID:630 genetic disease ISO RGD:1323071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101384 HEBP2 heme binding protein 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1323071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 12101396 DLST dihydrolipoamide S-succinyltransferase gene DOID:1059 intellectual disability ISO RGD:1351694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12101396 DLST dihydrolipoamide S-succinyltransferase gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1351694 D RGD:9068941 20200806 RGD DNA:polymorphisms: : PMID:10227647|REF_RGD_ID:1358587 12101396 DLST dihydrolipoamide S-succinyltransferase gene DOID:630 genetic disease ISO RGD:1351694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101396 DLST dihydrolipoamide S-succinyltransferase gene DOID:9008213 Paragangliomas 7 ISO RGD:1351694 D RGD:7240710 20190710 OMIM 12101396 DLST dihydrolipoamide S-succinyltransferase gene DOID:9008213 Paragangliomas 7 ISO RGD:1351694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paragangliomas 7 PMID:25741868|PMID:30929736 12101422 EFNA3 ephrin A3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1352863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12101422 EFNA3 ephrin A3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1352863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12101422 EFNA3 ephrin A3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1352863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12101422 EFNA3 ephrin A3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1352863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12101422 EFNA3 ephrin A3 gene DOID:1540 parathyroid carcinoma ISO RGD:1352863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12101422 EFNA3 ephrin A3 gene DOID:5812 MHC class II deficiency ISO RGD:1352863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12101422 EFNA3 ephrin A3 gene DOID:630 genetic disease ISO RGD:1352863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101422 EFNA3 ephrin A3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12101507 MRPL19 mitochondrial ribosomal protein L19 gene DOID:630 genetic disease ISO RGD:1349255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101507 MRPL19 mitochondrial ribosomal protein L19 gene DOID:9008939 Breast Neoplasms ISO RGD:1349255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12101517 PRSS50 serine protease 50 gene DOID:630 genetic disease ISO RGD:1605685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101517 PRSS50 serine protease 50 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1605685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12101527 A4GNT alpha-1,4-N-acetylglucosaminyltransferase gene DOID:1793 pancreatic cancer ISO RGD:1348447 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell PMID:16441422|REF_RGD_ID:2325199 12101527 A4GNT alpha-1,4-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:1348447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101536 TYRO3 TYRO3 protein tyrosine kinase gene DOID:0060903 thrombosis ISO RGD:11467 D RGD:9068941 20200609 RGD PMID:15733062|REF_RGD_ID:1580531 12101536 TYRO3 TYRO3 protein tyrosine kinase gene DOID:0060903 thrombosis ISO RGD:736404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15733062 12101536 TYRO3 TYRO3 protein tyrosine kinase gene DOID:2717 Bloom syndrome ISO RGD:736404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12101536 TYRO3 TYRO3 protein tyrosine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12101536 TYRO3 TYRO3 protein tyrosine kinase gene DOID:630 genetic disease ISO RGD:736404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101536 TYRO3 TYRO3 protein tyrosine kinase gene DOID:9005851 46, XX Disorders of Sex Development ISO RGD:736404 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: 46,XX disorder of sex development 12101536 TYRO3 TYRO3 protein tyrosine kinase gene DOID:9256 colorectal cancer ISO RGD:736404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12101572 PTGES2 prostaglandin E synthase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12101572 PTGES2 prostaglandin E synthase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1321966 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12101572 PTGES2 prostaglandin E synthase 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12101572 PTGES2 prostaglandin E synthase 2 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1321966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12101572 PTGES2 prostaglandin E synthase 2 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1321966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 12101572 PTGES2 prostaglandin E synthase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12101572 PTGES2 prostaglandin E synthase 2 gene DOID:630 genetic disease ISO RGD:1321966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101572 PTGES2 prostaglandin E synthase 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1321966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22387750 12101572 PTGES2 prostaglandin E synthase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31444509 12101589 CD302 CD302 molecule gene DOID:12849 autistic disorder ISO RGD:5131384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 12101589 CD302 CD302 molecule gene DOID:630 genetic disease ISO RGD:5131384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101638 PPP1CC protein phosphatase 1 catalytic subunit gamma gene DOID:6000 congestive heart failure ISO RGD:3377 D RGD:9068941 20200609 RGD protein:increased expression:heart, membrane PMID:26668322|REF_RGD_ID:11526267 12101638 PPP1CC protein phosphatase 1 catalytic subunit gamma gene DOID:630 genetic disease ISO RGD:734001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101638 PPP1CC protein phosphatase 1 catalytic subunit gamma gene DOID:9000039 Spinal Cord Injuries ISO RGD:3377 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, astrocyte, microglial cell PMID:29033188|REF_RGD_ID:13514047 12101638 PPP1CC protein phosphatase 1 catalytic subunit gamma gene DOID:9002762 Ovarian Neoplasms ISO RGD:734001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:0050328 congenital hypothyroidism ISO RGD:2206 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:skull, serum PMID:7920889|REF_RGD_ID:6483557 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:0050445 X-linked dominant hypophosphatemic rickets ISO RGD:1621634 D RGD:9068941 20200609 RGD mRNA:increased expression:long bone PMID:22573557|REF_RGD_ID:7207229 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:619567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:0080322 polycystic kidney disease ISO RGD:2206 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12376805|REF_RGD_ID:7207414 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:619567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:24886237 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:0090109 autosomal dominant hypocalcemia ISO RGD:2206 D RGD:9068941 20200609 RGD PMID:2106357|REF_RGD_ID:6483581 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:0111253 neurofibromatosis 1 ISO RGD:619567 D RGD:9068941 20200609 RGD protein:decreased expression:blood PMID:22120694|REF_RGD_ID:6483542 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:0111535 progressive osseous heteroplasia ISO RGD:619567 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:0111940 immunodeficiency 42 ISO RGD:619567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:619567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:619567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:10283 prostate cancer ISO RGD:619567 D RGD:9068941 20200609 RGD PMID:12565780|REF_RGD_ID:6483580 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:11249 vitamin K deficiency bleeding ISO RGD:619567 D RGD:9068941 20200609 RGD PMID:16869104|REF_RGD_ID:6483568 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:11476 osteoporosis ISO RGD:2206 D RGD:9068941 20200609 RGD PMID:21550389|REF_RGD_ID:6483552 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:11476 osteoporosis ISO RGD:619567 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, type 2;associated with Diabetes Mellitus, type 2; protein:uncercarboxylated:serum PMID:15108065|REF_RGD_ID:6483579 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:11476 osteoporosis susceptibility ISO RGD:619567 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:promoter:g.-298C>T (human) PMID:23137636|REF_RGD_ID:10045665 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:1184 nephrotic syndrome ISO RGD:619567 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:22989431|REF_RGD_ID:7205481 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:14330 Parkinson's disease ISO RGD:619567 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:16114020|REF_RGD_ID:7207224 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:1485 cystic fibrosis ISO RGD:619567 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:16622660|REF_RGD_ID:6483578 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:1540 parathyroid carcinoma ISO RGD:619567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:182 calcinosis ISO RGD:619567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:182 calcinosis ISO RGD:619567 D RGD:9068941 20200609 RGD associated with hypertension;protein:undercarboxylated:serum PMID:20197689|REF_RGD_ID:6483566 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:182 calcinosis ISO RGD:619567 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:2841 asthma ISO RGD:619567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8429434 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:4079 heart valve disease ISO RGD:619567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:5812 MHC class II deficiency ISO RGD:619567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:585 nephrolithiasis ISO RGD:619567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:24886237 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:630 genetic disease ISO RGD:619567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:7148 rheumatoid arthritis ISO RGD:619567 D RGD:9068941 20200609 RGD PMID:22447331|REF_RGD_ID:6483593 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:7148 rheumatoid arthritis ISO RGD:619567 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:3488088|REF_RGD_ID:6483600 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:783 end stage renal disease ISO RGD:2206 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17365904|REF_RGD_ID:7207409 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:783 end stage renal disease ISO RGD:619567 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20845051|REF_RGD_ID:7207235 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:8398 osteoarthritis disease_progression ISO RGD:619567 D RGD:9068941 20200609 RGD PMID:20157712|REF_RGD_ID:6483599 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:8778 Crohn's disease ISO RGD:619567 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone PMID:22535626|REF_RGD_ID:6483321 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:8778 Crohn's disease ISO RGD:619567 D RGD:9068941 20200609 RGD protein:undercarboxylated:serum PMID:21482072|REF_RGD_ID:6483546 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:9002165 Diabetic Nephropathies ISO RGD:619567 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type2; protein:increased expression:serum: PMID:9347246|REF_RGD_ID:7207424 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:619567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14666681 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:9002315 Kidney Calculi ISO RGD:1621634 D RGD:9068941 20200609 RGD PMID:12674322|REF_RGD_ID:7207412 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:9002331 Knee Osteoarthritis ISO RGD:2206 D RGD:9068941 20200609 RGD PMID:21387139|REF_RGD_ID:6483595 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:9002331 Knee Osteoarthritis ISO RGD:619567 D RGD:9068941 20200609 RGD PMID:22294259|REF_RGD_ID:6483563 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:9002407 Spinal Fractures ISO RGD:619567 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; PMID:19641839|REF_RGD_ID:7207248 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:9002407 Spinal Fractures disease_progression ISO RGD:619567 D RGD:9068941 20200609 RGD associated with osteoporosis PMID:12697366|REF_RGD_ID:7207225 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:9002457 Experimental Arthritis ISO RGD:1621634 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21406003|REF_RGD_ID:6483549 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:9002589 Bone Fractures ISO RGD:619567 D RGD:9068941 20200609 RGD associated with kidney failure, chronic; PMID:21784896|REF_RGD_ID:7207231 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2206 D RGD:9068941 20200609 RGD protein:reduced expression:serum (rat) PMID:19494718|REF_RGD_ID:2316184 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:9006359 Vitamin D Deficiency ISO RGD:2206 D RGD:9068941 20200609 RGD PMID:3105848|REF_RGD_ID:6483561 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:9006646 Metabolic Syndrome ISO RGD:619567 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21760737|REF_RGD_ID:6483594 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:619567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:619567 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:15747054|REF_RGD_ID:7207410 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:9409 diabetes insipidus ISO RGD:619567 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:9661594|REF_RGD_ID:7207422 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:9744 type 1 diabetes mellitus ISO RGD:619567 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:21041817|REF_RGD_ID:7207232 12101654 BGLAP bone gamma-carboxyglutamate protein gene DOID:9744 type 1 diabetes mellitus ISO RGD:619567 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:9850345|REF_RGD_ID:7207419 12101662 DCN decorin gene DOID:0060445 congenital stromal corneal dystrophy ISO RGD:1346102 D RGD:7240710 20180130 OMIM 12101662 DCN decorin gene DOID:0060445 congenital stromal corneal dystrophy ISO RGD:1346102 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital stromal corneal dystrophy PMID:11805522|PMID:15671264|PMID:16935612|PMID:20301741|PMID:21993463|PMID:24413633|PMID:28492532|PMID:5304426 12101662 DCN decorin gene DOID:1063 interstitial nephritis ISO RGD:1346102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16005714 12101662 DCN decorin gene DOID:11714 gestational diabetes ISO RGD:1346102 D RGD:9068941 20200609 RGD PMID:16630654|REF_RGD_ID:2311413 12101662 DCN decorin gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:1346102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 12101662 DCN decorin gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:62188 D RGD:9068941 20220825 MouseDO OMIM:225400 12101662 DCN decorin gene DOID:2841 asthma ISO RGD:61895 D RGD:9068941 20200609 RGD PMID:16387756|REF_RGD_ID:2311423 12101662 DCN decorin gene DOID:3070 high grade glioma disease_progression ISO RGD:1346102 D RGD:9068941 20200609 RGD PMID:15475879|REF_RGD_ID:2311425 12101662 DCN decorin gene DOID:3459 breast carcinoma ISO RGD:1346102 D RGD:9068941 20200609 RGD PMID:18688028|REF_RGD_ID:2311418 12101662 DCN decorin gene DOID:5844 myocardial infarction ISO RGD:61895 D RGD:9068941 20200609 RGD PMID:16311904|REF_RGD_ID:1598497 12101662 DCN decorin gene DOID:630 genetic disease ISO RGD:1346102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101662 DCN decorin gene DOID:684 hepatocellular carcinoma ISO RGD:1346102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12101662 DCN decorin gene DOID:9000784 Fibrosis ISO RGD:1346102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16005714 12101662 DCN decorin gene DOID:9000784 Fibrosis ISO RGD:61895 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:16005714|REF_RGD_ID:2311424 12101662 DCN decorin gene DOID:9000965 Neoplasm Metastasis ISO RGD:1346102 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:18688028|REF_RGD_ID:2311418 12101662 DCN decorin gene DOID:9001600 Wounds and Injuries ISO RGD:61895 D RGD:9068941 20200609 RGD PMID:19393425|REF_RGD_ID:2311417 12101662 DCN decorin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1346102 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:12187087|REF_RGD_ID:2311415 12101662 DCN decorin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1346102 D RGD:9068941 20200609 RGD protein:increased expression:plasma, urine PMID:11259366|REF_RGD_ID:2311416 12101662 DCN decorin gene DOID:9002165 Diabetic Nephropathies ISO RGD:62188 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17884968|REF_RGD_ID:2311411 12101662 DCN decorin gene DOID:9002165 Diabetic Nephropathies ISO RGD:62188 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;mRNA, protein:decreased expression:kidney cortex, glomerulus PMID:16868749|REF_RGD_ID:2311412 12101662 DCN decorin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61895 D RGD:9068941 20200609 RGD PMID:15713786|REF_RGD_ID:2311414 12101662 DCN decorin gene DOID:9007102 Myocardial Ischemia ISO RGD:1346102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12101662 DCN decorin gene DOID:9007715 Endometrial Neoplasms ISO RGD:1346102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16804899 12101662 DCN decorin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346102 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18414424|REF_RGD_ID:2311410 12101662 DCN decorin gene DOID:9970 obesity ISO RGD:61895 D RGD:9068941 20200609 RGD PMID:17244723|REF_RGD_ID:1600551 12101662 DCN decorin gene DOID:9970 obesity ISO RGD:62188 D RGD:9068941 20200609 RGD PMID:17244723|REF_RGD_ID:1600551 12101687 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:0080000 muscular disease ISO RGD:1353383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29905857 12101687 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:0110660 congenital myasthenic syndrome 12 ISO RGD:1353383 D RGD:7240710 20180130 OMIM 12101687 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:0110660 congenital myasthenic syndrome 12 ISO RGD:1353383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 12 | ClinVar Annotator: match by term: Myasthenia, congenital, 12, with tubular aggregates PMID:12467753|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21310273|PMID:23488891|PMID:23569079|PMID:23794683|PMID:24033266|PMID:25741868|PMID:25765662|PMID:26467025|PMID:28464723|PMID:28492532|PMID:28712002|PMID:29054425|PMID:30635494|PMID:32140910|PMID:32403337|PMID:32528171|PMID:32754643|PMID:8664562|PMID:9536098 12101687 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:1353383 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency PMID:23794683|PMID:25741868|PMID:28464723|PMID:28492532|PMID:29054425|PMID:32403337|PMID:32528171 12101687 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:1168 familial hyperlipidemia ISO RGD:1549703 D RGD:9068941 20200609 RGD mRNA:increased expression:gastrocnemius PMID:16555472|REF_RGD_ID:1624365 12101687 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:2018 hyperinsulinism ISO RGD:1549703 D RGD:9068941 20200609 RGD mRNA:increased expression:gastrocnemius PMID:16555472|REF_RGD_ID:1624365 12101687 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1353383 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:21310273|PMID:23488891|PMID:23794683|PMID:24033266|PMID:25741868|PMID:25765662|PMID:28492532|PMID:28712002|PMID:29054425 12101687 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:630 genetic disease ISO RGD:1353383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12101687 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1353383 D RGD:9068941 20200609 RGD PMID:9519709|REF_RGD_ID:2313353 12101687 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1549703 D RGD:9068941 20200609 RGD protein:decreased expression:epididymal fat pad, liver, skeletal muscle PMID:7589852|REF_RGD_ID:2313355 12101687 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1353383 D RGD:9068941 20200609 RGD PMID:11118009|REF_RGD_ID:1625423 12101687 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:9007692 Insulin Resistance ISO RGD:1353383 D RGD:9068941 20200609 RGD PMID:11118009|REF_RGD_ID:1625423 12101687 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353383 D RGD:9068941 20200609 RGD PMID:17574229|REF_RGD_ID:2313352 12101687 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:9970 obesity ISO RGD:1353383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12101687 GFPT1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:9970 obesity ISO RGD:1353383 D RGD:9068941 20200609 RGD PMID:11118009|REF_RGD_ID:1625423 12101711 ATOSB atos homolog B gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1322605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12101711 ATOSB atos homolog B gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1322605 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12101711 ATOSB atos homolog B gene DOID:0080942 anauxetic dysplasia ISO RGD:1322605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12101711 ATOSB atos homolog B gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1322605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12101711 ATOSB atos homolog B gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1322605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12101711 ATOSB atos homolog B gene DOID:630 genetic disease ISO RGD:1322605 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101711 ATOSB atos homolog B gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1322605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12101711 ATOSB atos homolog B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12101711 ATOSB atos homolog B gene DOID:9870 galactosemia ISO RGD:1322605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12101736 CCDC106 coiled-coil domain containing 106 gene DOID:630 genetic disease ISO RGD:1607037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101757 DENND5B DENN domain containing 5B gene DOID:630 genetic disease ISO RGD:1605273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101786 AKR7A2 aldo-keto reductase family 7 member A2 gene DOID:0060041 autism spectrum disorder ISO RGD:732683 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12101786 AKR7A2 aldo-keto reductase family 7 member A2 gene DOID:0060369 Parkinson's disease 6 ISO RGD:732683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12101786 AKR7A2 aldo-keto reductase family 7 member A2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732683 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12101786 AKR7A2 aldo-keto reductase family 7 member A2 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:732683 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12101786 AKR7A2 aldo-keto reductase family 7 member A2 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:732683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12101786 AKR7A2 aldo-keto reductase family 7 member A2 gene DOID:10652 Alzheimer's disease ISO RGD:732683 D RGD:9068941 20200609 RGD protein:increased expression:superior, middle temporal gyrus; PMID:11597610|REF_RGD_ID:14349051 12101786 AKR7A2 aldo-keto reductase family 7 member A2 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:732683 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19077459|REF_RGD_ID:2325696 12101786 AKR7A2 aldo-keto reductase family 7 member A2 gene DOID:630 genetic disease ISO RGD:732683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101786 AKR7A2 aldo-keto reductase family 7 member A2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:732683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12101797 C34H3orf70 chromosome 34 C3orf70 homolog gene DOID:0111546 Currarino syndrome ISO RGD:1605238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12101797 C34H3orf70 chromosome 34 C3orf70 homolog gene DOID:630 genetic disease ISO RGD:1605238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101797 C34H3orf70 chromosome 34 C3orf70 homolog gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1562339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12101810 SUN2 Sad1 and UNC84 domain containing 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1322098 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12101810 SUN2 Sad1 and UNC84 domain containing 2 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1322098 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12101810 SUN2 Sad1 and UNC84 domain containing 2 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1322098 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12101810 SUN2 Sad1 and UNC84 domain containing 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1322098 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:16199547|PMID:16783378|PMID:17576681|PMID:18570303|PMID:18799783|PMID:22213678|PMID:25210889|PMID:28492532|PMID:9536098 12101810 SUN2 Sad1 and UNC84 domain containing 2 gene DOID:630 genetic disease ISO RGD:1322098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12101836 CATSPER3 cation channel sperm associated 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313883 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12101836 CATSPER3 cation channel sperm associated 3 gene DOID:630 genetic disease ISO RGD:1313883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101836 CATSPER3 cation channel sperm associated 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12101836 CATSPER3 cation channel sperm associated 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313883 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12101859 GCNT1 glucosaminyl (N-acetyl) transferase 1 gene DOID:630 genetic disease ISO RGD:1351431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101859 GCNT1 glucosaminyl (N-acetyl) transferase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12101859 GCNT1 glucosaminyl (N-acetyl) transferase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15882971 12101859 GCNT1 glucosaminyl (N-acetyl) transferase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621370 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:7560067|REF_RGD_ID:632804 12101885 ATG4D autophagy related 4D cysteine peptidase gene DOID:0050753 cerebellar ataxia IAGP D RGD:12801476 20210603 OMIA Neurodegenerative vacuolar storage disease PMID:25875846|PMID:28583040|PMID:33016245 12101885 ATG4D autophagy related 4D cysteine peptidase gene DOID:630 genetic disease ISO RGD:1348604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101900 MARCHF4 membrane associated ring-CH-type finger 4 gene DOID:630 genetic disease ISO RGD:1353584 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101900 MARCHF4 membrane associated ring-CH-type finger 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12101900 MARCHF4 membrane associated ring-CH-type finger 4 gene DOID:9255 frontotemporal dementia ISO RGD:1353584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:29476165 12101908 BSX brain specific homeobox gene DOID:5419 schizophrenia ISO RGD:1626189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12101908 BSX brain specific homeobox gene DOID:630 genetic disease ISO RGD:1626189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101908 BSX brain specific homeobox gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1626189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12101908 BSX brain specific homeobox gene DOID:9007661 Dwarfism ISO RGD:1626189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12101913 LOC489516 heparan sulfate glucosamine 3-O-sulfotransferase 3B1 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1316454 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:12207933|PMID:1303230|PMID:1677316|PMID:1822787|PMID:20493460|PMID:20739940|PMID:22190321|PMID:28492532 12101913 LOC489516 heparan sulfate glucosamine 3-O-sulfotransferase 3B1 gene DOID:0060041 autism spectrum disorder ISO RGD:1316454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23044707|PMID:25741868|PMID:27569545 12101913 LOC489516 heparan sulfate glucosamine 3-O-sulfotransferase 3B1 gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:1316454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA PMID:25741868 12101913 LOC489516 heparan sulfate glucosamine 3-O-sulfotransferase 3B1 gene DOID:12849 autistic disorder ISO RGD:1316454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12101913 LOC489516 heparan sulfate glucosamine 3-O-sulfotransferase 3B1 gene DOID:289 endometriosis ISO RGD:1316454 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12101913 LOC489516 heparan sulfate glucosamine 3-O-sulfotransferase 3B1 gene DOID:5419 schizophrenia ISO RGD:1316454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12101913 LOC489516 heparan sulfate glucosamine 3-O-sulfotransferase 3B1 gene DOID:630 genetic disease ISO RGD:1316454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101919 CHD5 chromodomain helicase DNA binding protein 5 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1317694 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12101919 CHD5 chromodomain helicase DNA binding protein 5 gene DOID:1826 epilepsy ISO RGD:1317694 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:33944996 12101919 CHD5 chromodomain helicase DNA binding protein 5 gene DOID:630 genetic disease ISO RGD:1317694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101919 CHD5 chromodomain helicase DNA binding protein 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1317694 D RGD:9068941 20210416 RGD mRNA:decreased expression:liver PMID:26517514|REF_RGD_ID:11537550 12101919 CHD5 chromodomain helicase DNA binding protein 5 gene DOID:769 neuroblastoma ISO RGD:1317694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 12101919 CHD5 chromodomain helicase DNA binding protein 5 gene DOID:9002801 Recurrence ISO RGD:1317694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 12101919 CHD5 chromodomain helicase DNA binding protein 5 gene DOID:9003182 Parenti-Mignot Neurodevelopmental Syndrome ISO RGD:1317694 D RGD:7240710 20221116 OMIM 12101919 CHD5 chromodomain helicase DNA binding protein 5 gene DOID:9003182 Parenti-Mignot Neurodevelopmental Syndrome ISO RGD:1317694 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Parenti-mignot neurodevelopmental syndrome PMID:25741868|PMID:33944996 12101919 CHD5 chromodomain helicase DNA binding protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317694 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33944996 12101919 CHD5 chromodomain helicase DNA binding protein 5 gene DOID:9006186 Harel-Yoon Syndrome ISO RGD:1317694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Harel-Yoon syndrome 12101919 CHD5 chromodomain helicase DNA binding protein 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1317694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33944996 12101919 CHD5 chromodomain helicase DNA binding protein 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1317694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 12101969 CORO1A coronin 1A gene DOID:0060019 coronin-1A deficiency ISO RGD:732928 D RGD:7240710 20180130 OMIM 12101969 CORO1A coronin 1A gene DOID:0060019 coronin-1A deficiency ISO RGD:732928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION | ClinVar Annotator: match by term: Immunodeficiency 8 PMID:16199547|PMID:17576681|PMID:18836449|PMID:19097825|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:23522482|PMID:24033266|PMID:24372385|PMID:24811917|PMID:25073507|PMID:25666293|PMID:25741868|PMID:27577878|PMID:28492532|PMID:30899265|PMID:9536098 12101969 CORO1A coronin 1A gene DOID:0060041 autism spectrum disorder ISO RGD:732928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12101969 CORO1A coronin 1A gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:732928 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12101969 CORO1A coronin 1A gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:732928 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12101969 CORO1A coronin 1A gene DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ISO RGD:732929 D RGD:9068941 20220825 MouseDO OMIM:608971 12101969 CORO1A coronin 1A gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:732928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12101969 CORO1A coronin 1A gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:732928 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12101969 CORO1A coronin 1A gene DOID:12849 autistic disorder ISO RGD:732928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12101969 CORO1A coronin 1A gene DOID:13884 sick sinus syndrome ISO RGD:732928 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sinus node disease 12101969 CORO1A coronin 1A gene DOID:1882 atrial heart septal defect ISO RGD:732928 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12101969 CORO1A coronin 1A gene DOID:305 carcinoma ISO RGD:732928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 12101969 CORO1A coronin 1A gene DOID:399 tuberculosis ISO RGD:732928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16040207 12101969 CORO1A coronin 1A gene DOID:5419 schizophrenia ISO RGD:732928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12101969 CORO1A coronin 1A gene DOID:627 severe combined immunodeficiency ISO RGD:732928 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 12101969 CORO1A coronin 1A gene DOID:630 genetic disease ISO RGD:732928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12101969 CORO1A coronin 1A gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:732928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 12101969 CORO1A coronin 1A gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:732928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12101969 CORO1A coronin 1A gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:732928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1320564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868|PMID:28492532 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:0050662 bestrophinopathy ISO RGD:1320564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy PMID:17128490|PMID:17297678|PMID:23379534|PMID:24033266|PMID:25474345|PMID:25741868|PMID:27096895|PMID:27258436|PMID:27628848|PMID:28041643|PMID:28181551|PMID:28492532|PMID:28819299|PMID:29391521|PMID:33546218 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:0050817 Stargardt disease ISO RGD:1320564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:10508521|PMID:22065545|PMID:23379534|PMID:25412400|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:0060869 late-onset retinal degeneration ISO RGD:1320565 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C249W (mouse) PMID:17234588|REF_RGD_ID:8552692 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:0110016 Leber congenital amaurosis 2 ISO RGD:1320564 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset retinal dystrophy PMID:10508521|PMID:15024725|PMID:16543197|PMID:17724218|PMID:17964524|PMID:19140180|PMID:22065545|PMID:23379534|PMID:23449718|PMID:25133751|PMID:25323024|PMID:25412400|PMID:25741868|PMID:26147992|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521|PMID:31456290|PMID:31896775|PMID:32295525|PMID:33342761|PMID:33546218 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1320564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER I | ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:10508521|PMID:11231775|PMID:12700176|PMID:12843338|PMID:15459956|PMID:16272259|PMID:17128490|PMID:17297678|PMID:18055816|PMID:19401883|PMID:20079931|PMID:20956273|PMID:22065545|PMID:23379534|PMID:23847139|PMID:24033266|PMID:24512366|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26312378|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27258436|PMID:27628848|PMID:28005958|PMID:28041643|PMID:28181551|PMID:28492532|PMID:28714225|PMID:28800606|PMID:28819299|PMID:29178642|PMID:29186038|PMID:29391521|PMID:30718709|PMID:31736247|PMID:32865313|PMID:33546218 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:0110079 Leber congenital amaurosis 8 ISO RGD:1320564 D RGD:7240710 20180130 OMIM 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:0110079 Leber congenital amaurosis 8 ISO RGD:1320564 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 8 PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12700176|PMID:12843338|PMID:1389483|PMID:1427914|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16505055|PMID:16543197|PMID:17128490|PMID:17297678|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18682808|PMID:19140180|PMID:19339744|PMID:19401883|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22219627|PMID:22277662|PMID:22968130|PMID:23077403|PMID:23105016|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23661368|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25133751|PMID:25323024|PMID:25326637|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26047050|PMID:26147992|PMID:26312378|PMID:26667666|PMID:26872607|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27258436|PMID:27353947|PMID:27375279|PMID:27380427|PMID:27628848|PMID:27806333|PMID:27884173|PMID:28005958|PMID:28041643|PMID:28129017|PMID:28181551|PMID:28341475|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28714225|PMID:28800606|PMID:28819299|PMID:2906847|PMID:29068479|PMID:29178642|PMID:29391521|PMID:29641573|PMID:30029497|PMID:30543658|PMID:30576320|PMID:30718709|PMID:31456290|PMID:31630094|PMID:31736247|PMID:31896775|PMID:32295525|PMID:32581362|PMID:33090715|PMID:33342761|PMID:33546218|PMID:36115989|PMID:9536098 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:0110358 retinitis pigmentosa 12 ISO RGD:1320564 D RGD:7240710 20180130 OMIM 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:0110358 retinitis pigmentosa 12 ISO RGD:1320564 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: RETINITIS PIGMENTOSA WITH OR WITHOUT PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM | ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12573663|PMID:12700176|PMID:12843338|PMID:1389483|PMID:1427914|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16505055|PMID:16543197|PMID:16936081|PMID:17128490|PMID:17297678|PMID:17525851|PMID:17576681|PMID:17660513|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18055820|PMID:18055821|PMID:18682808|PMID:19140180|PMID:19339744|PMID:19401883|PMID:19763152|PMID:19956407|PMID:20065226|PMID:20079931|PMID:20301475|PMID:20307669|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21484995|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22128245|PMID:22164218|PMID:22219627|PMID:22334370|PMID:22406018|PMID:22968130|PMID:23077403|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24618324|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25133751|PMID:25323024|PMID:25326637|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25611614|PMID:25640679|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26147992|PMID:26312378|PMID:26355662|PMID:26626312|PMID:26667666|PMID:26766544|PMID:26872607|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27353947|PMID:27380427|PMID:27628848|PMID:27670293|PMID:27806333|PMID:27884173|PMID:28005958|PMID:28041643|PMID:28129017|PMID:28157192|PMID:28181551|PMID:28341475|PMID:28341476|PMID:28460491|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28714225|PMID:28800606|PMID:28819299|PMID:28912962|PMID:29053603|PMID:2906847|PMID:29068479|PMID:29074561|PMID:29178642|PMID:29186038|PMID:29200130|PMID:29391521|PMID:29641573|PMID:29844330|PMID:30029497|PMID:30543658|PMID:30576320|PMID:30608181|PMID:30718709|PMID:30902645|PMID:31054281|PMID:31103025|PMID:31106028|PMID:31322236|PMID:31456290|PMID:31630094|PMID:31736247|PMID:31896775|PMID:32037395|PMID:32141364|PMID:32581362|PMID:32865313|PMID:32901921|PMID:33090715|PMID:33342761|PMID:33546218|PMID:33576794|PMID:33633436|PMID:33921607|PMID:33946315|PMID:8069649|PMID:9536098 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:0111541 pigmented paravenous chorioretinal atrophy ISO RGD:1320564 D RGD:7240710 20180130 OMIM 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:0111541 pigmented paravenous chorioretinal atrophy ISO RGD:1320564 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophy PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:1389483|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16199547|PMID:16272259|PMID:17576681|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20956273|PMID:21602930|PMID:22065545|PMID:22219627|PMID:22968130|PMID:23105016|PMID:23379534|PMID:23449718|PMID:23591405|PMID:23592920|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24715753|PMID:24811962|PMID:25097241|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26047050|PMID:26312378|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27113771|PMID:28005958|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28559085|PMID:28714225|PMID:28800606|PMID:28819299|PMID:29178642|PMID:29391521|PMID:30029497|PMID:30718709|PMID:31630094|PMID:31736247|PMID:32581362|PMID:33090715|PMID:33342761|PMID:33546218|PMID:9536098 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:17576681|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27113771|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28800606|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30029497|PMID:30718709|PMID:31456290|PMID:33546218|PMID:9536098 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320564 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24715753|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27113771|PMID:27157150|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28800606|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30718709|PMID:31456290|PMID:33546218 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:17576681|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23077403|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27113771|PMID:27157150|PMID:27380427|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28800606|PMID:29074561|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30029497|PMID:30543658|PMID:30718709|PMID:31456290|PMID:32581362|PMID:33090715|PMID:33546218|PMID:9536098 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320564 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:17576681|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23077403|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27113771|PMID:27157150|PMID:27380427|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28800606|PMID:29074561|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30029497|PMID:30543658|PMID:30718709|PMID:31456290|PMID:32165824|PMID:32581362|PMID:33090715|PMID:33546218|PMID:9536098 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:1320564 D RGD:9068941 20200609 RGD DNA:missense mutations PMID:10508521|REF_RGD_ID:1600966 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:1059 intellectual disability ISO RGD:1320564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:11231775|PMID:12843338|PMID:15024725|PMID:15459956|PMID:16272259|PMID:18055816|PMID:20079931|PMID:20591486|PMID:22164218|PMID:25741868|PMID:28492532|PMID:30718709 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1320564 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital retinal blindness | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease | ClinVar Annotator: match by term: Retinal blindness, congenital PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12843338|PMID:1389483|PMID:15024725|PMID:15459956|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16543197|PMID:17128490|PMID:17297678|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18682808|PMID:19140180|PMID:19401883|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23105016|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24715753|PMID:24938718|PMID:25133751|PMID:25323024|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26147992|PMID:26667666|PMID:26872607|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27628848|PMID:28005958|PMID:28041643|PMID:28181551|PMID:28341475|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28714225|PMID:28800606|PMID:28819299|PMID:29178642|PMID:29186038|PMID:29391521|PMID:30576320|PMID:30718709|PMID:31456290|PMID:31896775|PMID:32141364|PMID:33342761|PMID:33546218|PMID:33576794 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1320564 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital retinal blindness | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12843338|PMID:1389483|PMID:15024725|PMID:15459956|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16543197|PMID:17128490|PMID:17297678|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18682808|PMID:19140180|PMID:19401883|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23105016|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24938718|PMID:25133751|PMID:25323024|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26147992|PMID:26312378|PMID:26667666|PMID:26872607|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27628848|PMID:27806333|PMID:28005958|PMID:28041643|PMID:28181551|PMID:28341475|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28714225|PMID:28800606|PMID:28819299|PMID:29068479|PMID:29178642|PMID:29391521|PMID:29641573|PMID:30029497|PMID:30576320|PMID:30718709|PMID:31456290|PMID:31736247|PMID:31896775|PMID:32141364|PMID:32581362|PMID:32865313|PMID:33090715|PMID:33342761|PMID:33546218|PMID:33576794|PMID:33921607|PMID:9536098 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1320564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:4448 macular degeneration ISO RGD:1320564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:10508521|PMID:11389483|PMID:12700176|PMID:15024725|PMID:15459956|PMID:17128490|PMID:17297678|PMID:20683928|PMID:20956273|PMID:22065545|PMID:23379534|PMID:24033266|PMID:24512366|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26047050|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27258436|PMID:27628848|PMID:28041643|PMID:28129017|PMID:28181551|PMID:28341475|PMID:28492532|PMID:28819299|PMID:29391521|PMID:30718709|PMID:33546218 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:5327 retinal detachment ISO RGD:1320564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11389483 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:5419 schizophrenia ISO RGD:1320564 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:630 genetic disease ISO RGD:1320564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10508521|PMID:17964524|PMID:22065545|PMID:23379534|PMID:25412400|PMID:25741868|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:7736 retinal telangiectasia ISO RGD:1320564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11389483 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:8501 fundus dystrophy ISO RGD:1320564 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:1427914|PMID:15024725|PMID:15459956|PMID:16199547|PMID:16543197|PMID:17128490|PMID:17297678|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18055820|PMID:18682808|PMID:19140180|PMID:19401883|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21484995|PMID:21757580|PMID:22065545|PMID:22968130|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:25133751|PMID:25323024|PMID:25356976|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26047050|PMID:26147992|PMID:26312378|PMID:26667666|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27353947|PMID:27380427|PMID:27628848|PMID:28041643|PMID:28129017|PMID:28181551|PMID:28341475|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28800606|PMID:28819299|PMID:28912962|PMID:29068479|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30543658|PMID:30576320|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31736247|PMID:31896775|PMID:32581362|PMID:33342761|PMID:33546218|PMID:33576794|PMID:33633436|PMID:9536098 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:9006597 Retinal Dysplasia treatment ISO RGD:1320565 D RGD:9068941 20200609 RGD PMID:24346171|REF_RGD_ID:8552698 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:9007488 Idiopathic Juxtafoveal Retinal Telangiectasia ISO RGD:1309947 D RGD:9068941 20200609 RGD PMID:25878282|REF_RGD_ID:13451131 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1320564 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 12101988 CRB1 crumbs cell polarity complex component 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12102012 EFCAB3 EF-hand calcium binding domain 3 gene DOID:630 genetic disease ISO RGD:1603895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12102064 LOC491957 doublesex- and mab-3-related transcription factor C2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:2301775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12102064 LOC491957 doublesex- and mab-3-related transcription factor C2 gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:2301775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 PMID:24403048 12102064 LOC491957 doublesex- and mab-3-related transcription factor C2 gene DOID:12849 autistic disorder ISO RGD:2301775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12102064 LOC491957 doublesex- and mab-3-related transcription factor C2 gene DOID:8445 intestinal volvulus ISO RGD:2301775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12102064 LOC491957 doublesex- and mab-3-related transcription factor C2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:2301775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12102074 PUF60 poly(U) binding splicing factor 60 gene DOID:0050834 CHARGE syndrome ISO RGD:731253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:25741868|PMID:29300383 12102074 PUF60 poly(U) binding splicing factor 60 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:731253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12102074 PUF60 poly(U) binding splicing factor 60 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12102074 PUF60 poly(U) binding splicing factor 60 gene DOID:4621 holoprosencephaly ISO RGD:731253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12102074 PUF60 poly(U) binding splicing factor 60 gene DOID:630 genetic disease ISO RGD:731253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28074499|PMID:28327570|PMID:28471317 12102074 PUF60 poly(U) binding splicing factor 60 gene DOID:9000637 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES ISO RGD:731253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities PMID:25741868 12102074 PUF60 poly(U) binding splicing factor 60 gene DOID:9002170 Experimental Neoplasms ISO RGD:731253 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21435101 12102074 PUF60 poly(U) binding splicing factor 60 gene DOID:9003566 Mesothelioma ISO RGD:731253 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21435101 12102074 PUF60 poly(U) binding splicing factor 60 gene DOID:9003952 Verheij Syndrome ISO RGD:731253 D RGD:7240710 20180130 OMIM 12102074 PUF60 poly(U) binding splicing factor 60 gene DOID:9003952 Verheij Syndrome ISO RGD:731253 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHROMOSOME 8q24.3 DELETION SYNDROME | ClinVar Annotator: match by term: Verheij syndrome PMID:18414213|PMID:24140112|PMID:25741868|PMID:27804958|PMID:28074499|PMID:28327570|PMID:28471317|PMID:28492532|PMID:29300383|PMID:30352594 12102074 PUF60 poly(U) binding splicing factor 60 gene DOID:9004226 Hittner Hirsch Kreh Syndrome ISO RGD:731253 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome PMID:25741868|PMID:29300383 12102074 PUF60 poly(U) binding splicing factor 60 gene DOID:9005749 Necrosis ISO RGD:731253 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21435101 12102106 MEOX1 mesenchyme homeobox 1 gene DOID:0080590 Klippel-Feil syndrome 2 ISO RGD:1318950 D RGD:7240710 20180130 OMIM 12102106 MEOX1 mesenchyme homeobox 1 gene DOID:0080590 Klippel-Feil syndrome 2 ISO RGD:1318950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 2, autosomal recessive PMID:23290072|PMID:24073994 12102106 MEOX1 mesenchyme homeobox 1 gene DOID:10426 Klippel-Feil syndrome ISO RGD:1318950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12102106 MEOX1 mesenchyme homeobox 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1318950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 12102106 MEOX1 mesenchyme homeobox 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1318950 D RGD:9068941 20220811 CTD CTD Direct Evidence: therapeutic PMID:34837450 12102106 MEOX1 mesenchyme homeobox 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1318950 D RGD:9068941 20220811 CTD CTD Direct Evidence: therapeutic PMID:34837450 12102106 MEOX1 mesenchyme homeobox 1 gene DOID:630 genetic disease ISO RGD:1318950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12102114 ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 gene DOID:10283 prostate cancer ISO RGD:1342953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12102114 ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 gene DOID:630 genetic disease ISO RGD:1342953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12102114 ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1342953 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 12102123 INSIG2 insulin induced gene 2 gene DOID:630 genetic disease ISO RGD:735428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12102123 INSIG2 insulin induced gene 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12102123 INSIG2 insulin induced gene 2 gene DOID:9004657 Weight Gain ISO RGD:735428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18195716|PMID:20373477 12102123 INSIG2 insulin induced gene 2 gene DOID:9006599 Hypertriglyceridemia severity ISO RGD:735429 D RGD:9068941 20200609 RGD associated with Obesity PMID:15096598|REF_RGD_ID:2308857 12102123 INSIG2 insulin induced gene 2 gene DOID:9452 fatty liver disease severity ISO RGD:735429 D RGD:9068941 20200609 RGD associated with Obesity PMID:15096598|REF_RGD_ID:2308857 12102132 THADA THADA armadillo repeat containing gene DOID:3883 Lynch syndrome ISO RGD:1323240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12102132 THADA THADA armadillo repeat containing gene DOID:630 genetic disease ISO RGD:1323240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12102132 THADA THADA armadillo repeat containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1323240 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18372903 12102184 EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:0070271 Lynch syndrome 1 ISO RGD:1354333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:36647049 12102184 EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1354333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 12102184 EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1354333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12102184 EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:3883 Lynch syndrome ISO RGD:1354333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12102184 EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:583 hemolytic anemia ISO RGD:1354333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25411909 12102184 EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:630 genetic disease ISO RGD:1354333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12102184 EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:9002720 Splenomegaly ISO RGD:1354333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25411909 12102184 EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:9006620 Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome ISO RGD:1354333 D RGD:7240710 20200715 OMIM 12102184 EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:9006620 Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome ISO RGD:1354333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome PMID:25741868|PMID:32197074 12102184 EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1354333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25411909 12102184 EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:9009183 Hypomyelinating Leukodystrophy 17 ISO RGD:1354333 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17 PMID:25741868 12102213 IER5 immediate early response 5 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:737469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12102213 IER5 immediate early response 5 gene DOID:1540 parathyroid carcinoma ISO RGD:737469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12102213 IER5 immediate early response 5 gene DOID:630 genetic disease ISO RGD:737469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12102213 IER5 immediate early response 5 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:737469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12102213 IER5 immediate early response 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12102220 REPIN1 replication initiator 1 gene DOID:2843 long QT syndrome ISO RGD:1347617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 12102220 REPIN1 replication initiator 1 gene DOID:630 genetic disease ISO RGD:1347617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12102249 LOC100688091 small nucleolar RNA SNORD22 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1344519 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12102249 LOC100688091 small nucleolar RNA SNORD22 gene DOID:1059 intellectual disability ISO RGD:1344519 D RGD:8554872 20220823 ClinVar ClinVar Annotator: match by term: Intellectual disability 12102249 LOC100688091 small nucleolar RNA SNORD22 gene DOID:3910 lung adenocarcinoma ISO RGD:1344519 D RGD:9068941 20220818 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12102249 LOC100688091 small nucleolar RNA SNORD22 gene DOID:9006205 Animal Disease Models ISO RGD:1344519 D RGD:9068941 20220818 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12102271 OLIG2 oligodendrocyte transcription factor 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316088 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12102271 OLIG2 oligodendrocyte transcription factor 2 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1316088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12102271 OLIG2 oligodendrocyte transcription factor 2 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316088 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12102271 OLIG2 oligodendrocyte transcription factor 2 gene DOID:1824 status epilepticus ISO RGD:1307098 D RGD:9068941 20201218 RGD mRNA, protein:decreased expression:white matter of cerebral lobe PMID:31415741|REF_RGD_ID:40902837 12102271 OLIG2 oligodendrocyte transcription factor 2 gene DOID:630 genetic disease ISO RGD:1316088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11337472|PMID:27479843 12102271 OLIG2 oligodendrocyte transcription factor 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1307098 D RGD:9068941 20201218 RGD PMID:22173726|REF_RGD_ID:40902844 12102271 OLIG2 oligodendrocyte transcription factor 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1316089 D RGD:9068941 20201218 RGD PMID:28452182|REF_RGD_ID:40902836 12102271 OLIG2 oligodendrocyte transcription factor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1316088 D RGD:9068941 20201211 RGD associated with breast cancer PMID:27340107|REF_RGD_ID:40902824 12102271 OLIG2 oligodendrocyte transcription factor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1307098 D RGD:9068941 20201218 RGD PMID:29682587|REF_RGD_ID:40902863 12102271 OLIG2 oligodendrocyte transcription factor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1316089 D RGD:9068941 20201211 RGD PMID:24941845|REF_RGD_ID:40902822 12102271 OLIG2 oligodendrocyte transcription factor 2 gene DOID:9005698 ZTTK Syndrome ISO RGD:1316088 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 12102271 OLIG2 oligodendrocyte transcription factor 2 gene DOID:9009105 HIV Encephalitis ISO RGD:1316088 D RGD:9068941 20201211 RGD PMID:15579294|REF_RGD_ID:40902823 12102271 OLIG2 oligodendrocyte transcription factor 2 gene DOID:9790 toxocariasis ISO RGD:1316089 D RGD:9068941 20201211 RGD PMID:25773181|REF_RGD_ID:40902825 12102365 EIF2A eukaryotic translation initiation factor 2A gene DOID:0050579 glycogen storage disease XV ISO RGD:1605026 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12102365 EIF2A eukaryotic translation initiation factor 2A gene DOID:5154 borna disease ISO RGD:1589591 D RGD:9068941 20200702 RGD protein:increased expression:cerebellum,hippocampus PMID:16912310|REF_RGD_ID:32733622 12102365 EIF2A eukaryotic translation initiation factor 2A gene DOID:630 genetic disease ISO RGD:1605026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12102365 EIF2A eukaryotic translation initiation factor 2A gene DOID:9004009 Reperfusion Injury ISO RGD:1605026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19041636 12102365 EIF2A eukaryotic translation initiation factor 2A gene DOID:9007102 Myocardial Ischemia ISO RGD:1605026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19041636 12102383 MPZL1 myelin protein zero like 1 gene DOID:0111942 immunodeficiency 25 ISO RGD:1343477 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 12102383 MPZL1 myelin protein zero like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1343477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12102383 MPZL1 myelin protein zero like 1 gene DOID:305 carcinoma ISO RGD:1343477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12102383 MPZL1 myelin protein zero like 1 gene DOID:630 genetic disease ISO RGD:1343477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12102383 MPZL1 myelin protein zero like 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1343477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12102383 MPZL1 myelin protein zero like 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1343477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12102383 MPZL1 myelin protein zero like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12102392 ARAP2 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 gene DOID:630 genetic disease ISO RGD:1315077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12102437 EPX eosinophil peroxidase gene DOID:0050777 Joubert syndrome ISO RGD:1323569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12102437 EPX eosinophil peroxidase gene DOID:1059 intellectual disability ISO RGD:1323569 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12102437 EPX eosinophil peroxidase gene DOID:2841 asthma ISO RGD:1323569 D RGD:9068941 20200609 RGD protein:increased activity:sputum,nasal,pharyngeal mucosa PMID:26645423|REF_RGD_ID:11574908 12102437 EPX eosinophil peroxidase gene DOID:2841 asthma disease_progression ISO RGD:1323569 D RGD:9068941 20200609 RGD PMID:20813885|REF_RGD_ID:13506891 12102437 EPX eosinophil peroxidase gene DOID:2841 asthma severity ISO RGD:1323569 D RGD:9068941 20200609 RGD PMID:12199967|REF_RGD_ID:13506892 12102437 EPX eosinophil peroxidase gene DOID:630 genetic disease ISO RGD:1323569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12102437 EPX eosinophil peroxidase gene DOID:9000406 Eosinophilic Asthma treatment ISO RGD:1323569 D RGD:9068941 20200609 RGD PMID:28751233|REF_RGD_ID:13506890 12102437 EPX eosinophil peroxidase gene DOID:9006769 Presentey Anomaly ISO RGD:1323569 D RGD:7240710 20180130 OMIM 12102437 EPX eosinophil peroxidase gene DOID:9006769 Presentey Anomaly ISO RGD:1323569 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Eosinophil peroxidase deficiency PMID:11241847|PMID:25741868|PMID:28492532|PMID:7809065 12102437 EPX eosinophil peroxidase gene DOID:9415 allergic asthma ISO RGD:1323569 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:11846868|REF_RGD_ID:13506893 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:0060180 colitis ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:colon: PMID:22261574|REF_RGD_ID:7207796 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:0070227 intrahepatic cholestasis of pregnancy ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28851649 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:0080162 lupus nephritis severity ISO RGD:730988 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:22788914|REF_RGD_ID:7241032 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:10763 hypertension ISO RGD:3952 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple organs PMID:19080338|REF_RGD_ID:2313107 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:10763 hypertension ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11834524|PMID:19018797 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:10763 hypertension ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type1; protein:increased expression:serum: PMID:20569722|REF_RGD_ID:7241235 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:10763 hypertension disease_progression ISO RGD:3952 D RGD:9068941 20200609 RGD associated with SHRSP;mRNA,protein:increased expression:kidney, membrane fraction (rat) PMID:17938382|REF_RGD_ID:1643008 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:10923 sickle cell anemia ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16916123 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:1168 familial hyperlipidemia ISO RGD:3952 D RGD:9068941 20200609 RGD PMID:18159007|REF_RGD_ID:2313110 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:1287 cardiovascular system disease ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16332659|PMID:25575156 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:12918 thromboangiitis obliterans ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:femoral artery: PMID:23069071|REF_RGD_ID:7207785 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:12918 thromboangiitis obliterans ISO RGD:730988 D RGD:9068941 20200609 RGD PMID:12086338|REF_RGD_ID:1580352 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:13001 carotid stenosis ISO RGD:3952 D RGD:9068941 20200609 RGD PMID:19958991|REF_RGD_ID:7240515 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:13580 cholestasis ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:13949 interstitial cystitis ISO RGD:730988 D RGD:9068941 20200609 RGD protein:increased expression:bladder, urine PMID:22441309|REF_RGD_ID:7241234 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:1555 urticaria ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12121561 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:1793 pancreatic cancer ISO RGD:730988 D RGD:9068941 20200609 RGD PMID:17652277|REF_RGD_ID:2325162 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:1936 atherosclerosis ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12677255 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:1936 atherosclerosis ameliorates ISO RGD:11481 D RGD:9068941 20230330 RGD PMID:35854140|REF_RGD_ID:242905195 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:2224 essential thrombocythemia ISO RGD:730988 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24434346|REF_RGD_ID:11354980 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:2349 arteriosclerosis ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:2355 anemia ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Renal Insufficiency,Chronic;protein:increased expression:serum: PMID:18974656|REF_RGD_ID:7241202 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:2377 multiple sclerosis ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20175758 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:2723 dermatitis ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27206134 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:2921 glomerulonephritis ISO RGD:730988 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:18574676|REF_RGD_ID:7241215 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:3407 carotid artery disease ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19717975|REF_RGD_ID:2312760 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:4676 uremia ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17347482 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:11481 D RGD:9068941 20200609 RGD protein:increased expression:urine, serum: PMID:23460853|REF_RGD_ID:7241232 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:4989 pancreatitis ISO RGD:730988 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12923961|REF_RGD_ID:2325163 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:520 aortic disease ISO RGD:3952 D RGD:9068941 20200609 RGD PMID:17873024|REF_RGD_ID:2313112 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:730988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:6432 pulmonary hypertension ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:blood vessel endothelium PMID:17934115|REF_RGD_ID:2298843 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:684 hepatocellular carcinoma ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22922871 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:77 gastrointestinal system disease susceptibility ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Purpura, Schoenlein-Henoch;DNA:polymorphism:cds: PMID:11361181|REF_RGD_ID:11354985 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:784 chronic kidney disease ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:20820841|REF_RGD_ID:4145364 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:784 chronic kidney disease ISO RGD:730988 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21111939|REF_RGD_ID:7241036 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:824 periodontitis ISO RGD:3952 D RGD:9068941 20200609 RGD associated with obesity;protein:increased expression:aorta: PMID:20065945|REF_RGD_ID:7240508 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:8481 rheumatic myocarditis severity ISO RGD:730988 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22987107|REF_RGD_ID:13702907 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:8577 ulcerative colitis ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15553846 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:8947 diabetic retinopathy ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:vitreous humor, serum PMID:19237221|REF_RGD_ID:2312762 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14602771 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9000888 Pregnancy in Diabetics ISO RGD:730988 D RGD:9068941 20200609 RGD PMID:20129688|REF_RGD_ID:7241238 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms;protein:increased expression:serum PMID:12923961|REF_RGD_ID:2325163 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9001542 Albuminuria ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:18299691|REF_RGD_ID:2312766 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:23303408|REF_RGD_ID:7240523 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus,Type 1;protein:increased expression:plasma: PMID:20138682|REF_RGD_ID:7241237 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3952 D RGD:9068941 20200609 RGD PMID:12196270|REF_RGD_ID:1580348 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9003871 Venous Thrombosis ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:thrombus, vein PMID:23199547|REF_RGD_ID:7207783 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3952 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:18813897|REF_RGD_ID:2313108 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:730988 D RGD:9068941 20200609 RGD PMID:12172318|REF_RGD_ID:1580350 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:11481 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:18093596|REF_RGD_ID:2306988 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3952 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:18983856|REF_RGD_ID:2312764 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9005930 Endotoxemia ISO RGD:3952 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:20061033|REF_RGD_ID:7240511 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:20164827|REF_RGD_ID:7240507 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9006359 Vitamin D Deficiency ISO RGD:730988 D RGD:9068941 20200609 RGD associated with obesity;protein:increased expression:serum: PMID:22677566|REF_RGD_ID:7241033 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:3952 D RGD:9068941 20200609 RGD PMID:18718174|REF_RGD_ID:2313109 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9006709 Primary Graft Dysfunction ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9007096 Stroke susceptibility ISO RGD:730988 D RGD:9068941 20200609 RGD associated with sickle cell anemia;DNA:missense mutation:exon 6:1238G>C (human) PMID:12393616|REF_RGD_ID:737738 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9007278 Anaphylaxis ISO RGD:3952 D RGD:9068941 20200609 RGD PMID:21604443|REF_RGD_ID:7207802 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9007692 Insulin Resistance ISO RGD:730988 D RGD:9068941 20200609 RGD PMID:11882338|REF_RGD_ID:1580351 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:23052973|REF_RGD_ID:7207792 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9008550 Vitamin A Deficiency ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:21512820|REF_RGD_ID:7207803 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12759764 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9009185 Lymphocytic Myocarditis ISO RGD:730988 D RGD:9068941 20200609 RGD PMID:9205546|REF_RGD_ID:13703027 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:730988 D RGD:9068941 20200609 RGD PMID:18693542|REF_RGD_ID:7241211 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9269 maple syrup urine disease ISO RGD:730988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730988 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18619052|REF_RGD_ID:2312765 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9477 pulmonary embolism ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19915157|REF_RGD_ID:7240517 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9743 diabetic neuropathy ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19414982|REF_RGD_ID:2312761 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic;protein:increased expression:artery: PMID:22210567|REF_RGD_ID:7241034 12102456 VCAM1 vascular cell adhesion molecule 1 gene DOID:9970 obesity ISO RGD:11481 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19260948|REF_RGD_ID:2312763 12102480 ADGRF5 adhesion G protein-coupled receptor F5 gene DOID:630 genetic disease ISO RGD:1347693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12102522 SLC22A16 solute carrier family 22 member 16 gene DOID:0080600 COVID-19 ISO RGD:1344136 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12102522 SLC22A16 solute carrier family 22 member 16 gene DOID:630 genetic disease ISO RGD:1344136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12102522 SLC22A16 solute carrier family 22 member 16 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1344136 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12102553 PCM1 pericentriolar material 1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1349730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 12102553 PCM1 pericentriolar material 1 gene DOID:5419 schizophrenia ISO RGD:1349730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19048012 12102553 PCM1 pericentriolar material 1 gene DOID:630 genetic disease ISO RGD:1349730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12102553 PCM1 pericentriolar material 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1349730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:10980597|PMID:25741868 12102629 CHMP3 charged multivesicular body protein 3 gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1351348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 12102639 EIF4A3 eukaryotic translation initiation factor 4A3 gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1352000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:28492532 12102639 EIF4A3 eukaryotic translation initiation factor 4A3 gene DOID:1059 intellectual disability ISO RGD:1352000 D RGD:9068941 20200609 RGD DNA:duplications:cds: (human) PMID:23376982|REF_RGD_ID:10045550 12102639 EIF4A3 eukaryotic translation initiation factor 4A3 gene DOID:1793 pancreatic cancer ISO RGD:1352000 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:15796914|REF_RGD_ID:10045549 12102639 EIF4A3 eukaryotic translation initiation factor 4A3 gene DOID:2752 glycogen storage disease II ISO RGD:1352000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:28492532 12102639 EIF4A3 eukaryotic translation initiation factor 4A3 gene DOID:630 genetic disease ISO RGD:1352000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12102639 EIF4A3 eukaryotic translation initiation factor 4A3 gene DOID:9004119 Richieri Costa Pereira Syndrome ISO RGD:1352000 D RGD:7240710 20180130 OMIM 12102639 EIF4A3 eukaryotic translation initiation factor 4A3 gene DOID:9004119 Richieri Costa Pereira Syndrome ISO RGD:1352000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Richieri Costa-Pereira syndrome PMID:24360810 12102639 EIF4A3 eukaryotic translation initiation factor 4A3 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1352000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 12102655 PCDH9 protocadherin 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1314916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18252227 12102655 PCDH9 protocadherin 9 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1314916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12102655 PCDH9 protocadherin 9 gene DOID:630 genetic disease ISO RGD:1314916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12102670 PLBD2 phospholipase B domain containing 2 gene DOID:630 genetic disease ISO RGD:1606689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12102686 WNK1 WNK lysine deficient protein kinase 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1343905 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary sensory radicular neuropathy, recessive form | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Neuropathy, congenital sensory PMID:25741868|PMID:26467025|PMID:28492532 12102686 WNK1 WNK lysine deficient protein kinase 1 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1343905 D RGD:7240710 20180130 OMIM 12102686 WNK1 WNK lysine deficient protein kinase 1 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1343905 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ACROOSTEOLYSIS, NEUROGENIC | ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15060842|PMID:15455397|PMID:15911806|PMID:16199547|PMID:16534117|PMID:16636245|PMID:16946995|PMID:17344846|PMID:17576681|PMID:18521183|PMID:18580052|PMID:19651702|PMID:21089229|PMID:21530900|PMID:21625937|PMID:22302274|PMID:22910560|PMID:22934535|PMID:23149595|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27066579|PMID:27671536|PMID:27765018|PMID:28422281|PMID:28492532|PMID:29701257|PMID:30497409|PMID:31132985|PMID:9536098 12102686 WNK1 WNK lysine deficient protein kinase 1 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1343905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15060842|PMID:15455397|PMID:15911806|PMID:16199547|PMID:16534117|PMID:16636245|PMID:16946995|PMID:17344846|PMID:17576681|PMID:18521183|PMID:18580052|PMID:19651702|PMID:21089229|PMID:21530900|PMID:21625937|PMID:22073419|PMID:22302274|PMID:22910560|PMID:22934535|PMID:23149595|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27066579|PMID:27671536|PMID:27765018|PMID:28422281|PMID:28492532|PMID:29701257|PMID:30497409|PMID:31132985|PMID:31949730|PMID:9536098 12102686 WNK1 WNK lysine deficient protein kinase 1 gene DOID:0070161 hereditary sensory and autonomic neuropathy type 2 ISO RGD:1343905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type II PMID:28492532 12102686 WNK1 WNK lysine deficient protein kinase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1343905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:15911806|PMID:16534117|PMID:16636245|PMID:18521183 12102686 WNK1 WNK lysine deficient protein kinase 1 gene DOID:10763 hypertension ISO RGD:1343905 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22949526 12102686 WNK1 WNK lysine deficient protein kinase 1 gene DOID:10763 hypertension ISO RGD:1343905 D RGD:9068941 20200609 RGD PMID:16301342|REF_RGD_ID:1580829 12102686 WNK1 WNK lysine deficient protein kinase 1 gene DOID:224 transient cerebral ischemia ISO RGD:621141 D RGD:9068941 20200609 RGD PMID:27798271|REF_RGD_ID:14398833 12102686 WNK1 WNK lysine deficient protein kinase 1 gene DOID:327 syringomyelia ISO RGD:1343905 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Morvan disease PMID:28492532 12102686 WNK1 WNK lysine deficient protein kinase 1 gene DOID:4479 pseudohypoaldosteronism ISO RGD:1343905 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperpotassemia and hypertension familial PMID:25741868|PMID:26467025|PMID:28492532 12102686 WNK1 WNK lysine deficient protein kinase 1 gene DOID:557 kidney disease ISO RGD:1343905 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21865292 12102686 WNK1 WNK lysine deficient protein kinase 1 gene DOID:630 genetic disease ISO RGD:1343905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15060842|PMID:15911806|PMID:17576681|PMID:21089229|PMID:22910560|PMID:23149595|PMID:25741868|PMID:27671536|PMID:28492532|PMID:31949730|PMID:9536098 12102686 WNK1 WNK lysine deficient protein kinase 1 gene DOID:9002890 Pseudohypoaldosteronism, Type IIA ISO RGD:1343905 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome PMID:25741868|PMID:26467025|PMID:28492532 12102686 WNK1 WNK lysine deficient protein kinase 1 gene DOID:9006034 Pseudohypoaldosteronism, Type IIC ISO RGD:1343905 D RGD:7240710 20180130 OMIM 12102686 WNK1 WNK lysine deficient protein kinase 1 gene DOID:9006034 Pseudohypoaldosteronism, Type IIC ISO RGD:1343905 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2C PMID:10869238|PMID:11498583|PMID:16199547|PMID:17344846|PMID:18580052|PMID:21530900|PMID:22073419|PMID:22910560|PMID:22934535|PMID:23149595|PMID:25741868|PMID:26467025|PMID:28492532 12102686 WNK1 WNK lysine deficient protein kinase 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1343905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12102747 SGTB small glutamine rich tetratricopeptide repeat co-chaperone beta gene DOID:630 genetic disease ISO RGD:1353974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12102747 SGTB small glutamine rich tetratricopeptide repeat co-chaperone beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12102771 SEC31A SEC31 homolog A, COPII coat complex component gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1350188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22474449 12102771 SEC31A SEC31 homolog A, COPII coat complex component gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1350188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 12102771 SEC31A SEC31 homolog A, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1350188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12102771 SEC31A SEC31 homolog A, COPII coat complex component gene DOID:9004325 Halperin-Birk Syndrome ISO RGD:1350188 D RGD:7240710 20200122 OMIM 12102771 SEC31A SEC31 homolog A, COPII coat complex component gene DOID:9004325 Halperin-Birk Syndrome ISO RGD:1350188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies PMID:25741868|PMID:30464055 12102816 BBS5 Bardet-Biedl syndrome 5 gene DOID:0050795 cone dystrophy ISO RGD:1321789 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:15137946|PMID:17576681|PMID:20498079|PMID:25741868|PMID:28041643|PMID:28492532|PMID:31506453|PMID:9536098 12102816 BBS5 Bardet-Biedl syndrome 5 gene DOID:0110127 Bardet-Biedl syndrome 5 ISO RGD:1321789 D RGD:7240710 20180130 OMIM 12102816 BBS5 Bardet-Biedl syndrome 5 gene DOID:0110127 Bardet-Biedl syndrome 5 ISO RGD:1321789 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 5 PMID:11342895|PMID:15137946|PMID:16199547|PMID:16877420|PMID:17576681|PMID:18203199|PMID:19367329|PMID:21052717|PMID:21209035|PMID:22626039|PMID:25741868|PMID:26325687|PMID:27708425|PMID:28041643|PMID:28492532|PMID:29806606|PMID:30718709|PMID:31760295|PMID:32451492|PMID:32641690|PMID:33572860|PMID:9536098 12102816 BBS5 Bardet-Biedl syndrome 5 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1321789 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:15137946|PMID:16199547|PMID:16877420|PMID:17576681|PMID:18203199|PMID:19367329|PMID:20498079|PMID:21052717|PMID:21209035|PMID:21344540|PMID:22626039|PMID:22773737|PMID:24400638|PMID:24559376|PMID:25741868|PMID:26325687|PMID:26766544|PMID:27708425|PMID:28041643|PMID:28492532|PMID:29806606|PMID:30614526|PMID:30718709|PMID:31506453|PMID:31760295|PMID:32451492|PMID:32641690|PMID:33572860|PMID:9536098 12102816 BBS5 Bardet-Biedl syndrome 5 gene DOID:630 genetic disease ISO RGD:1321789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12102816 BBS5 Bardet-Biedl syndrome 5 gene DOID:8501 fundus dystrophy ISO RGD:1321789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15137946|PMID:16199547|PMID:16877420|PMID:21209035|PMID:25741868|PMID:26325687|PMID:27708425|PMID:28041643|PMID:28492532|PMID:29806606 12102832 IQGAP2 IQ motif containing GTPase activating protein 2 gene DOID:630 genetic disease ISO RGD:1350713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12102832 IQGAP2 IQ motif containing GTPase activating protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1350713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20977743 12102832 IQGAP2 IQ motif containing GTPase activating protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1621864 D RGD:9068941 20220825 MouseDO OMIM:114550 12102832 IQGAP2 IQ motif containing GTPase activating protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12102832 IQGAP2 IQ motif containing GTPase activating protein 2 gene DOID:9007502 Brain Neoplasms ISO RGD:1350713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 12102872 NUP155 nucleoporin 155 gene DOID:0060224 atrial fibrillation ISO RGD:734441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation 12102872 NUP155 nucleoporin 155 gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:734441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:28492532 12102872 NUP155 nucleoporin 155 gene DOID:5426 primary ovarian insufficiency ISO RGD:734441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12102872 NUP155 nucleoporin 155 gene DOID:630 genetic disease ISO RGD:734441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12102872 NUP155 nucleoporin 155 gene DOID:9000234 Familial Atrial Fibrillation 15 ISO RGD:734441 D RGD:7240710 20180130 OMIM 12102872 NUP155 nucleoporin 155 gene DOID:9000234 Familial Atrial Fibrillation 15 ISO RGD:734441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 15 PMID:15596564|PMID:19070573|PMID:25741868 12102872 NUP155 nucleoporin 155 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12102872 NUP155 nucleoporin 155 gene DOID:9008086 Developmental Disabilities ISO RGD:734441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12102911 GCSH glycine cleavage system protein H gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1348453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 12102911 GCSH glycine cleavage system protein H gene DOID:630 genetic disease ISO RGD:1348453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12102911 GCSH glycine cleavage system protein H gene DOID:9252 amino acid metabolic disorder ISO RGD:1348453 D RGD:9068941 20200609 RGD protein:decreased activity:liver: PMID:7070876|REF_RGD_ID:12904659 12102911 GCSH glycine cleavage system protein H gene DOID:9268 glycine encephalopathy ISO RGD:1348453 D RGD:7240710 20180130 OMIM 12102911 GCSH glycine cleavage system protein H gene DOID:9268 glycine encephalopathy ISO RGD:1348453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:12402263|PMID:17576681|PMID:25741868|PMID:28492532|PMID:33890291|PMID:9536098 12102920 TEFM transcription elongation factor, mitochondrial gene DOID:0111253 neurofibromatosis 1 ISO RGD:1605945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 12102920 TEFM transcription elongation factor, mitochondrial gene DOID:1969 cerebral palsy ISO RGD:1605945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12102920 TEFM transcription elongation factor, mitochondrial gene DOID:630 genetic disease ISO RGD:1605945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12102920 TEFM transcription elongation factor, mitochondrial gene DOID:9008086 Developmental Disabilities ISO RGD:1605945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 12102929 TBC1D13 TBC1 domain family member 13 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1318412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12102929 TBC1D13 TBC1 domain family member 13 gene DOID:630 genetic disease ISO RGD:1318412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12102945 PRICKLE4 prickle planar cell polarity protein 4 gene DOID:0050444 infantile Refsum disease ISO RGD:1347495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12102945 PRICKLE4 prickle planar cell polarity protein 4 gene DOID:630 genetic disease ISO RGD:1347495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12102945 PRICKLE4 prickle planar cell polarity protein 4 gene DOID:905 Zellweger syndrome ISO RGD:1347495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12102965 PRUNE1 prune exopolyphosphatase 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1350944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12102965 PRUNE1 prune exopolyphosphatase 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1350944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12102965 PRUNE1 prune exopolyphosphatase 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1350944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12102965 PRUNE1 prune exopolyphosphatase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1350944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12102965 PRUNE1 prune exopolyphosphatase 1 gene DOID:5812 MHC class II deficiency ISO RGD:1350944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12102965 PRUNE1 prune exopolyphosphatase 1 gene DOID:630 genetic disease ISO RGD:1350944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12102965 PRUNE1 prune exopolyphosphatase 1 gene DOID:9005194 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES ISO RGD:1350944 D RGD:7240710 20190315 OMIM 12102965 PRUNE1 prune exopolyphosphatase 1 gene DOID:9005194 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES ISO RGD:1350944 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies PMID:25741868|PMID:26539891|PMID:28211990|PMID:28334956|PMID:28492532|PMID:29797509|PMID:29940663|PMID:30556349|PMID:33105479 12102965 PRUNE1 prune exopolyphosphatase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12102997 LDLRAD4 low density lipoprotein receptor class A domain containing 4 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1313099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12102997 LDLRAD4 low density lipoprotein receptor class A domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1313099 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12102997 LDLRAD4 low density lipoprotein receptor class A domain containing 4 gene DOID:630 genetic disease ISO RGD:1313099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12103029 OR10A3 olfactory receptor family 10 subfamily A member 3 gene DOID:630 genetic disease ISO RGD:1351222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12103032 INA internexin neuronal intermediate filament protein alpha gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:69037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12103032 INA internexin neuronal intermediate filament protein alpha gene DOID:3525 middle cerebral artery infarction ISO RGD:10806 D RGD:9068941 20201211 RGD PMID:29967576|REF_RGD_ID:27226878 12103032 INA internexin neuronal intermediate filament protein alpha gene DOID:630 genetic disease ISO RGD:69037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12103032 INA internexin neuronal intermediate filament protein alpha gene DOID:9002189 High Myopia ISO RGD:69037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12103032 INA internexin neuronal intermediate filament protein alpha gene DOID:9005125 Lupus Vasculitis, Central Nervous System severity ISO RGD:69037 D RGD:9068941 20201204 RGD PMID:20559547|REF_RGD_ID:40886275 12103039 KCTD16 potassium channel tetramerization domain containing 16 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1320838 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12103039 KCTD16 potassium channel tetramerization domain containing 16 gene DOID:630 genetic disease ISO RGD:1320838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12103039 KCTD16 potassium channel tetramerization domain containing 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12103039 KCTD16 potassium channel tetramerization domain containing 16 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320838 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12103052 MYEF2 myelin expression factor 2 gene DOID:0050632 oculocutaneous albinism ISO RGD:1315223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:16199547|PMID:23985994|PMID:24033266|PMID:26686029|PMID:28492532 12103052 MYEF2 myelin expression factor 2 gene DOID:0080614 oculocutaneous albinism type VI ISO RGD:1315223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Albinism, oculocutaneous, type VI PMID:23364476|PMID:23985994|PMID:25741868|PMID:26491832|PMID:26686029|PMID:28492532|PMID:31077556 12103052 MYEF2 myelin expression factor 2 gene DOID:14323 Marfan syndrome ISO RGD:1315223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:21063442|PMID:25741868|PMID:26787436|PMID:28492532 12103052 MYEF2 myelin expression factor 2 gene DOID:2717 Bloom syndrome ISO RGD:1315223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12103052 MYEF2 myelin expression factor 2 gene DOID:630 genetic disease ISO RGD:1315223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23985994|PMID:26686029|PMID:28492532 12103052 MYEF2 myelin expression factor 2 gene DOID:9001735 Skin/Hair/Eye Pigmentation, Variation In, 4 ISO RGD:1315223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 4 PMID:23010199|PMID:25741868 12103052 MYEF2 myelin expression factor 2 gene DOID:9256 colorectal cancer ISO RGD:1315223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12103073 CDCA7 cell division cycle associated 7 gene DOID:0090010 immunodeficiency-centromeric instability-facial anomalies syndrome 3 ISO RGD:1319671 D RGD:7240710 20190315 OMIM 12103073 CDCA7 cell division cycle associated 7 gene DOID:0090010 immunodeficiency-centromeric instability-facial anomalies syndrome 3 ISO RGD:1319671 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 3 PMID:15952214|PMID:1999836|PMID:21596365|PMID:25741868|PMID:26216346|PMID:28492532 12103073 CDCA7 cell division cycle associated 7 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1319671 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12103073 CDCA7 cell division cycle associated 7 gene DOID:630 genetic disease ISO RGD:1319671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12103073 CDCA7 cell division cycle associated 7 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1319671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12103086 EDIL3 EGF like repeats and discoidin domains 3 gene DOID:630 genetic disease ISO RGD:1343635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12103086 EDIL3 EGF like repeats and discoidin domains 3 gene DOID:8398 osteoarthritis ISO RGD:1343635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12103086 EDIL3 EGF like repeats and discoidin domains 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12103102 MAP2K3 mitogen-activated protein kinase kinase 3 gene DOID:1612 breast cancer ISO RGD:1315342 D RGD:9068941 20200609 RGD PMID:24233520|REF_RGD_ID:7495808 12103102 MAP2K3 mitogen-activated protein kinase kinase 3 gene DOID:1612 breast cancer ISO RGD:1315342 D RGD:9068941 20200609 RGD protein:increased protein:mammary gland PMID:12618338|REF_RGD_ID:7495809 12103102 MAP2K3 mitogen-activated protein kinase kinase 3 gene DOID:219 colon cancer ISO RGD:1315342 D RGD:9068941 20200609 RGD PMID:24233520|REF_RGD_ID:7495808 12103102 MAP2K3 mitogen-activated protein kinase kinase 3 gene DOID:3068 glioblastoma disease_progression ISO RGD:1315342 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:brain PMID:17406030|REF_RGD_ID:1641940 12103102 MAP2K3 mitogen-activated protein kinase kinase 3 gene DOID:3069 malignant astrocytoma ISO RGD:1315342 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:brain PMID:17406030|REF_RGD_ID:1641940 12103102 MAP2K3 mitogen-activated protein kinase kinase 3 gene DOID:397 restrictive cardiomyopathy ISO RGD:1315342 D RGD:9068941 20200609 RGD PMID:11593045|REF_RGD_ID:1302548 12103102 MAP2K3 mitogen-activated protein kinase kinase 3 gene DOID:4362 cervical cancer treatment ISO RGD:1315342 D RGD:9068941 20200609 RGD PMID:20980434|REF_RGD_ID:7495806 12103102 MAP2K3 mitogen-activated protein kinase kinase 3 gene DOID:5679 retinal disease treatment ISO RGD:1306620 D RGD:9068941 20200609 RGD PMID:16805832|REF_RGD_ID:7495810 12103102 MAP2K3 mitogen-activated protein kinase kinase 3 gene DOID:630 genetic disease ISO RGD:1315342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12103102 MAP2K3 mitogen-activated protein kinase kinase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1315342 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 12103102 MAP2K3 mitogen-activated protein kinase kinase 3 gene DOID:9002211 Hyperalgesia onset ISO RGD:1315343 D RGD:9068941 20200609 RGD PMID:19427893|REF_RGD_ID:7495807 12103102 MAP2K3 mitogen-activated protein kinase kinase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315342 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32512071 12103102 MAP2K3 mitogen-activated protein kinase kinase 3 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1315342 D RGD:9068941 20200609 RGD PMID:24233520|REF_RGD_ID:7495808 12103102 MAP2K3 mitogen-activated protein kinase kinase 3 gene DOID:9005172 Lung Neoplasms ISO RGD:1315342 D RGD:9068941 20200609 RGD PMID:24233520|REF_RGD_ID:7495808 12103102 MAP2K3 mitogen-activated protein kinase kinase 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1315342 D RGD:9068941 20200609 RGD PMID:24233520|REF_RGD_ID:7495808 12103102 MAP2K3 mitogen-activated protein kinase kinase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1306620 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney, glomerulus PMID:11473637|REF_RGD_ID:7495813 12103102 MAP2K3 mitogen-activated protein kinase kinase 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:1306620 D RGD:9068941 20200609 RGD PMID:20550965|REF_RGD_ID:7243113 12103102 MAP2K3 mitogen-activated protein kinase kinase 3 gene DOID:916 liver benign neoplasm ISO RGD:1315342 D RGD:9068941 20200609 RGD PMID:24233520|REF_RGD_ID:7495808 12103118 DCAKD dephospho-CoA kinase domain containing gene DOID:630 genetic disease ISO RGD:1602678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12103126 KRT17 keratin 17 gene DOID:0050449 pachyonychia congenita ISO RGD:1353171 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12103126 KRT17 keratin 17 gene DOID:0080082 nonsyndromic congenital nail disorder 4 ISO RGD:1353171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anonychia PMID:25741868 12103126 KRT17 keratin 17 gene DOID:0111556 steatocystoma multiplex ISO RGD:1353171 D RGD:7240710 20180130 OMIM 12103126 KRT17 keratin 17 gene DOID:0111556 steatocystoma multiplex ISO RGD:1353171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple sebaceous cysts | ClinVar Annotator: match by term: Steatocystoma multiplex PMID:11886499|PMID:14714564|PMID:19470054|PMID:22336949|PMID:2248894|PMID:24611874|PMID:25741868|PMID:25946540|PMID:26165312|PMID:28492532|PMID:29218738|PMID:29784039|PMID:31823354|PMID:7529318|PMID:9008238|PMID:9767294 12103126 KRT17 keratin 17 gene DOID:2121 ectodermal dysplasia susceptibility ISO RGD:1353171 D RGD:9068941 20200609 RGD protein:mutation: ; N92D; pachyonychia congenita, OMIM:167210 PMID:7539673|REF_RGD_ID:1600184 12103126 KRT17 keratin 17 gene DOID:2513 basal cell carcinoma ISO RGD:1353171 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20871598 12103126 KRT17 keratin 17 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1353171 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12103126 KRT17 keratin 17 gene DOID:630 genetic disease ISO RGD:1353171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12103126 KRT17 keratin 17 gene DOID:9001341 Chloracne ISO RGD:1353171 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21237254 12103126 KRT17 keratin 17 gene DOID:9004213 Pachyonychia Congenita 2 ISO RGD:1353171 D RGD:7240710 20190327 OMIM 12103126 KRT17 keratin 17 gene DOID:9004213 Pachyonychia Congenita 2 ISO RGD:1353171 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pachyonychia congenita 2 PMID:10571744|PMID:11348474|PMID:11874497|PMID:11886499|PMID:14714564|PMID:19470054|PMID:22336949|PMID:2248894|PMID:24611874|PMID:25741868|PMID:25946540|PMID:26165312|PMID:28492532|PMID:29218738|PMID:29784039|PMID:31823354|PMID:3954955|PMID:7529318|PMID:7539673|PMID:9008238|PMID:9767294 12103126 KRT17 keratin 17 gene DOID:9004464 Skin Neoplasms ISO RGD:1353171 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26168014 12103126 KRT17 keratin 17 gene DOID:9008109 Sebocystomatosis ISO RGD:1353171 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sebocystomatosis PMID:22336949|PMID:2248894|PMID:25741868|PMID:28492532|PMID:31823354|PMID:7529318|PMID:9008238|PMID:9767294 12103139 PCNT pericentrin gene DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II ISO RGD:1317411 D RGD:7240710 20191002 OMIM 12103139 PCNT pericentrin gene DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II ISO RGD:1317411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II PMID:12210304|PMID:15372530|PMID:16199547|PMID:17576681|PMID:18157127|PMID:18174396|PMID:18414213|PMID:19448849|PMID:19643772|PMID:19839044|PMID:19937158|PMID:21195721|PMID:21567919|PMID:22821869|PMID:23033978|PMID:24033266|PMID:24928221|PMID:25326635|PMID:25363768|PMID:25741868|PMID:27124789|PMID:27323140|PMID:27900370|PMID:28492532|PMID:30214071|PMID:30922925|PMID:32267100|PMID:32818659|PMID:9536098 12103139 PCNT pericentrin gene DOID:0070007 Seckel syndrome 1 ISO RGD:1317411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18157127 12103139 PCNT pericentrin gene DOID:0070013 Seckel syndrome 2 ISO RGD:1317411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18174396 12103139 PCNT pericentrin gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1317411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12103139 PCNT pericentrin gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1317411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 12103139 PCNT pericentrin gene DOID:0110266 cataract 9 multiple types ISO RGD:1317411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12103139 PCNT pericentrin gene DOID:1059 intellectual disability ISO RGD:1317411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23033978|PMID:25741868|PMID:28492532 12103139 PCNT pericentrin gene DOID:10907 microcephaly ISO RGD:1317411 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12103139 PCNT pericentrin gene DOID:11372 megacolon ISO RGD:1317411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12103139 PCNT pericentrin gene DOID:12849 autistic disorder ISO RGD:1317411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12103139 PCNT pericentrin gene DOID:14250 Down syndrome ISO RGD:1317411 D RGD:9068941 20200609 RGD PMID:22552340|PMID:23979692|REF_RGD_ID:11537399|REF_RGD_ID:11537404 12103139 PCNT pericentrin gene DOID:630 genetic disease ISO RGD:1317411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 12103139 PCNT pericentrin gene DOID:8725 vascular dementia ISO RGD:1317411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 12103139 PCNT pericentrin gene DOID:891 progressive myoclonus epilepsy ISO RGD:1317411 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12103139 PCNT pericentrin gene DOID:9002954 Microcephalic Osteodysplastic Primordial Dwarfism ISO RGD:1317411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism PMID:18414213|PMID:28492532 12103139 PCNT pericentrin gene DOID:9008086 Developmental Disabilities ISO RGD:1317411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 12103139 PCNT pericentrin gene DOID:9263 homocystinuria ISO RGD:1317411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12103139 PCNT pericentrin gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12103192 RASGEF1B RasGEF domain family member 1B gene DOID:0080600 COVID-19 ISO RGD:1348873 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12103192 RASGEF1B RasGEF domain family member 1B gene DOID:630 genetic disease ISO RGD:1348873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12103192 RASGEF1B RasGEF domain family member 1B gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1348873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12103192 RASGEF1B RasGEF domain family member 1B gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1348873 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12103236 RAP1B RAP1B, member of RAS oncogene family gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620577 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus (rat) PMID:12196513|REF_RGD_ID:10041023 12103247 RABEPK Rab9 effector protein with kelch motifs gene DOID:630 genetic disease ISO RGD:1604052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12103247 RABEPK Rab9 effector protein with kelch motifs gene DOID:9002189 High Myopia ISO RGD:1604052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12103267 C1QTNF3 C1q and TNF related 3 gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:1312783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 12103267 C1QTNF3 C1q and TNF related 3 gene DOID:630 genetic disease ISO RGD:1312783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12103267 C1QTNF3 C1q and TNF related 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12103281 VPREB3 V-set pre-B cell surrogate light chain 3 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1315630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 12103281 VPREB3 V-set pre-B cell surrogate light chain 3 gene DOID:1826 epilepsy ISO RGD:1315630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12103281 VPREB3 V-set pre-B cell surrogate light chain 3 gene DOID:5419 schizophrenia ISO RGD:1315630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12103281 VPREB3 V-set pre-B cell surrogate light chain 3 gene DOID:630 genetic disease ISO RGD:1315630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12103287 PDE4DIP phosphodiesterase 4D interacting protein gene DOID:1540 parathyroid carcinoma ISO RGD:1352019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12103287 PDE4DIP phosphodiesterase 4D interacting protein gene DOID:5419 schizophrenia ISO RGD:1352019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12103287 PDE4DIP phosphodiesterase 4D interacting protein gene DOID:684 hepatocellular carcinoma ISO RGD:1352019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 12103287 PDE4DIP phosphodiesterase 4D interacting protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12103381 DBP D-box binding PAR bZIP transcription factor gene DOID:11476 osteoporosis ISO RGD:733159 D RGD:9068941 20200609 RGD PMID:17002564|REF_RGD_ID:1625350 12103381 DBP D-box binding PAR bZIP transcription factor gene DOID:630 genetic disease ISO RGD:733159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12103391 PRDM6 PR/SET domain 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350258 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12103391 PRDM6 PR/SET domain 6 gene DOID:13832 patent ductus arteriosus ISO RGD:1350258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12103391 PRDM6 PR/SET domain 6 gene DOID:1682 congenital heart disease ISO RGD:1350258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of 12103391 PRDM6 PR/SET domain 6 gene DOID:630 genetic disease ISO RGD:1350258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12103391 PRDM6 PR/SET domain 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12103391 PRDM6 PR/SET domain 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350258 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12103391 PRDM6 PR/SET domain 6 gene DOID:9007386 Congenital Lower Urinary Tract Obstruction ISO RGD:1350258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital PMID:31690835 12103391 PRDM6 PR/SET domain 6 gene DOID:9007470 Patent Ductus Arteriosus 3 ISO RGD:1350258 D RGD:7240710 20190315 OMIM 12103391 PRDM6 PR/SET domain 6 gene DOID:9007470 Patent Ductus Arteriosus 3 ISO RGD:1350258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Patent ductus arteriosus 3 PMID:25741868|PMID:27181681 12103422 CYP4V2 cytochrome P450 family 4 subfamily V member 2 gene DOID:0050664 Bietti crystalline corneoretinal dystrophy ISO RGD:1312886 D RGD:7240710 20180130 OMIM 12103422 CYP4V2 cytochrome P450 family 4 subfamily V member 2 gene DOID:0050664 Bietti crystalline corneoretinal dystrophy ISO RGD:1312886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy PMID:15042513|PMID:15937078|PMID:16088246|PMID:16179904|PMID:16199547|PMID:17962476|PMID:18398705|PMID:21385027|PMID:21565171|PMID:22087103|PMID:22497028|PMID:22693542|PMID:22772592|PMID:23221965|PMID:23538635|PMID:23661369|PMID:24033266|PMID:24480711|PMID:24739949|PMID:25118264|PMID:25356976|PMID:25593508|PMID:25611614|PMID:25741868|PMID:26971461|PMID:27658286|PMID:28051075|PMID:28492532|PMID:28512305|PMID:28698241|PMID:28763560|PMID:28848678|PMID:29691984|PMID:29785639|PMID:30429639|PMID:31512983|PMID:31960602|PMID:33090715|PMID:33546218 12103422 CYP4V2 cytochrome P450 family 4 subfamily V member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1312886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25255310 12103422 CYP4V2 cytochrome P450 family 4 subfamily V member 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1312886 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:24480711|PMID:28041643|PMID:28492532 12103422 CYP4V2 cytochrome P450 family 4 subfamily V member 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1312886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:24480711|PMID:28041643|PMID:28051075|PMID:28492532|PMID:33090715 12103422 CYP4V2 cytochrome P450 family 4 subfamily V member 2 gene DOID:12849 autistic disorder ISO RGD:1312886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12103422 CYP4V2 cytochrome P450 family 4 subfamily V member 2 gene DOID:2229 factor XI deficiency ISO RGD:1312886 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:32581362|PMID:34355501 12103422 CYP4V2 cytochrome P450 family 4 subfamily V member 2 gene DOID:2566 corneal dystrophy ISO RGD:1312886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal Dystrophy, Recessive | ClinVar Annotator: match by term: Corneal dystrophy PMID:15042513|PMID:15937078|PMID:23221965|PMID:24480711|PMID:25741868|PMID:28492532 12103422 CYP4V2 cytochrome P450 family 4 subfamily V member 2 gene DOID:630 genetic disease ISO RGD:1312886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12103422 CYP4V2 cytochrome P450 family 4 subfamily V member 2 gene DOID:8501 fundus dystrophy ISO RGD:1312886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15042513|PMID:15937078|PMID:22772592|PMID:23221965|PMID:24033266|PMID:25118264|PMID:25356976|PMID:25593508|PMID:25611614|PMID:25741868|PMID:26971461|PMID:28051075|PMID:28492532|PMID:28848678 12103422 CYP4V2 cytochrome P450 family 4 subfamily V member 2 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1312886 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 12103515 TDRD6 tudor domain containing 6 gene DOID:2843 long QT syndrome ISO RGD:1314293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12103515 TDRD6 tudor domain containing 6 gene DOID:630 genetic disease ISO RGD:1314293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12103532 VEGFB vascular endothelial growth factor B gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1343221 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12103532 VEGFB vascular endothelial growth factor B gene DOID:1059 intellectual disability ISO RGD:1343221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12103532 VEGFB vascular endothelial growth factor B gene DOID:1727 retinal vein occlusion ISO RGD:619799 D RGD:9068941 20200609 RGD PMID:21487926|REF_RGD_ID:5490120 12103532 VEGFB vascular endothelial growth factor B gene DOID:1793 pancreatic cancer ISO RGD:1343221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24604347 12103532 VEGFB vascular endothelial growth factor B gene DOID:3070 high grade glioma ISO RGD:1343221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12103532 VEGFB vascular endothelial growth factor B gene DOID:5844 myocardial infarction ISO RGD:1343221 D RGD:9068941 20200609 RGD PMID:17975666|REF_RGD_ID:2314324 12103532 VEGFB vascular endothelial growth factor B gene DOID:630 genetic disease ISO RGD:1343221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12103532 VEGFB vascular endothelial growth factor B gene DOID:6432 pulmonary hypertension ISO RGD:1343221 D RGD:9068941 20200609 RGD PMID:12547729|REF_RGD_ID:1625708 12103532 VEGFB vascular endothelial growth factor B gene DOID:9000918 Disease Progression ISO RGD:1343221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23146280 12103532 VEGFB vascular endothelial growth factor B gene DOID:9000998 Brain Injuries ISO RGD:619799 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:12230324|REF_RGD_ID:1580574 12103532 VEGFB vascular endothelial growth factor B gene DOID:9001044 Choroidal Neovascularization ISO RGD:1622354 D RGD:9068941 20200609 RGD PMID:19369214|REF_RGD_ID:2314323 12103532 VEGFB vascular endothelial growth factor B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1622354 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:16816123|REF_RGD_ID:2313725 12103532 VEGFB vascular endothelial growth factor B gene DOID:9007748 Retinal Neovascularization ISO RGD:1622354 D RGD:9068941 20200609 RGD PMID:19369214|REF_RGD_ID:2314323 12103532 VEGFB vascular endothelial growth factor B gene DOID:9008939 Breast Neoplasms ISO RGD:1343221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23146280 12103546 ACAD8 acyl-CoA dehydrogenase family member 8 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1344764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12103546 ACAD8 acyl-CoA dehydrogenase family member 8 gene DOID:5419 schizophrenia ISO RGD:1344764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12103546 ACAD8 acyl-CoA dehydrogenase family member 8 gene DOID:630 genetic disease ISO RGD:1344764 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16857760|PMID:17304052|PMID:17576681|PMID:24635911|PMID:25741868|PMID:28492532|PMID:32778825|PMID:33432785|PMID:9536098 12103546 ACAD8 acyl-CoA dehydrogenase family member 8 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12103546 ACAD8 acyl-CoA dehydrogenase family member 8 gene DOID:9000918 Disease Progression ISO RGD:1344764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12103546 ACAD8 acyl-CoA dehydrogenase family member 8 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12103546 ACAD8 acyl-CoA dehydrogenase family member 8 gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1344764 D RGD:7240710 20180130 OMIM 12103546 ACAD8 acyl-CoA dehydrogenase family member 8 gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1344764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:12359132|PMID:15505379|PMID:16199547|PMID:16857760|PMID:17304052|PMID:17576681|PMID:17924841|PMID:21109224|PMID:23255084|PMID:24635911|PMID:25333069|PMID:25689098|PMID:25741868|PMID:28053874|PMID:28492532|PMID:30253142|PMID:30626930|PMID:31813752|PMID:32778825|PMID:33432785|PMID:9536098|PMID:9889013 12103561 ZNF205 zinc finger protein 205 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12103561 ZNF205 zinc finger protein 205 gene DOID:11612 polycystic ovary syndrome ISO RGD:1312095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12103561 ZNF205 zinc finger protein 205 gene DOID:1826 epilepsy ISO RGD:1312095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12103561 ZNF205 zinc finger protein 205 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312095 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12103561 ZNF205 zinc finger protein 205 gene DOID:630 genetic disease ISO RGD:1312095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12103579 FLNB filamin B gene DOID:0050680 Boomerang dysplasia ISO RGD:1323621 D RGD:7240710 20180130 OMIM 12103579 FLNB filamin B gene DOID:0050680 Boomerang dysplasia ISO RGD:1323621 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Boomerang dysplasia PMID:12955767|PMID:14991055|PMID:17510210|PMID:25741868|PMID:28492532 12103579 FLNB filamin B gene DOID:0060564 spinal disease ISO RGD:1323621 D RGD:9068941 20200609 RGD spondylocarpotarsal syndrome,OMIM:272460;DNA:frameshift:6408delC,DNA:point mutation:exons:R818X,R1607X PMID:14991055|REF_RGD_ID:1601168 12103579 FLNB filamin B gene DOID:0080006 bone development disease ISO RGD:1323621 D RGD:9068941 20200609 RGD Larsen syndrome,OMIM:150250;DNA:point mutation:exon:F161C PMID:14991055|REF_RGD_ID:1601168 12103579 FLNB filamin B gene DOID:0080006 bone development disease ISO RGD:1323621 D RGD:9068941 20200609 RGD boomerang dysplasia, OMIM:112310;DNA:point mutation:exon:L171R,S235P PMID:15994868|REF_RGD_ID:1601170 12103579 FLNB filamin B gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1323621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FLNB-Related Disorders PMID:16752402|PMID:20301736|PMID:22190451|PMID:25741868 12103579 FLNB filamin B gene DOID:0090116 spondylocarpotarsal synostosis syndrome ISO RGD:1323621 D RGD:7240710 20180130 OMIM 12103579 FLNB filamin B gene DOID:0090116 spondylocarpotarsal synostosis syndrome ISO RGD:1323621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome PMID:14991055|PMID:18257094|PMID:18322662|PMID:18386804|PMID:20301736|PMID:25741868|PMID:26380986|PMID:28492532|PMID:29566257 12103579 FLNB filamin B gene DOID:11836 clubfoot ISO RGD:1323621 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:c.4717G>T (p.D1573Y), c.1897A>G(p.M633V,c.2195A>G (p.Y732C)(human) PMID:27395407|REF_RGD_ID:12791025 12103579 FLNB filamin B gene DOID:14764 Larsen syndrome ISO RGD:1323621 D RGD:7240710 20180130 OMIM 12103579 FLNB filamin B gene DOID:14764 Larsen syndrome ISO RGD:1323621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome PMID:14991055|PMID:16648377|PMID:16752402|PMID:16801345|PMID:17576681|PMID:18322662|PMID:20301736|PMID:21620354|PMID:22190451|PMID:24123776|PMID:25741868|PMID:26380986|PMID:26491051|PMID:27048506|PMID:28229453|PMID:28492532|PMID:32369273|PMID:9536098 12103579 FLNB filamin B gene DOID:2256 osteochondrodysplasia ISO RGD:1323621 D RGD:9068941 20200609 RGD DNA:missense, deletion mutations:exons: PMID:16752402|REF_RGD_ID:12791027 12103579 FLNB filamin B gene DOID:2256 osteochondrodysplasia ISO RGD:1323621 D RGD:9068941 20200609 RGD atelosteogenesis type I,OMIM:108720;DNA:point mutation:exon:A173V PMID:14991055|REF_RGD_ID:1601168 12103579 FLNB filamin B gene DOID:630 genetic disease ISO RGD:1323621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12103579 FLNB filamin B gene DOID:65 connective tissue disease ISO RGD:1323621 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:14991055|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12103579 FLNB filamin B gene DOID:65 connective tissue disease ISO RGD:1323621 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:14991055|PMID:17576681|PMID:20301736|PMID:25741868|PMID:28492532|PMID:9536098 12103579 FLNB filamin B gene DOID:674 cleft palate susceptibility ISO RGD:1323621 D RGD:9068941 20200609 RGD DNA:SNPs:: PMID:20634891|REF_RGD_ID:12791026 12103579 FLNB filamin B gene DOID:9001383 Atelosteogenesis Type 1 ISO RGD:1323621 D RGD:7240710 20180130 OMIM 12103579 FLNB filamin B gene DOID:9001383 Atelosteogenesis Type 1 ISO RGD:1323621 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Atelosteogenesis type I PMID:14991055|PMID:16752402|PMID:20301736|PMID:22190451|PMID:24624349|PMID:25741868|PMID:28492532 12103579 FLNB filamin B gene DOID:9004353 Larsen Syndromes ISO RGD:1323621 D RGD:9068941 20200609 RGD DNA:deletion, missense mutations:cds: PMID:16801345|REF_RGD_ID:12791029 12103579 FLNB filamin B gene DOID:9004436 Atelosteogenesis Type 3 ISO RGD:1323621 D RGD:7240710 20180130 OMIM 12103579 FLNB filamin B gene DOID:9004436 Atelosteogenesis Type 3 ISO RGD:1323621 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atelosteogenesis type III PMID:14991055|PMID:17576681|PMID:20301736|PMID:25741868|PMID:28492532|PMID:9536098 12103579 FLNB filamin B gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1323621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 12103579 FLNB filamin B gene DOID:9004979 Knee Dislocation ISO RGD:1323621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Knee dislocation PMID:25741868|PMID:28492532|PMID:31836586 12103579 FLNB filamin B gene DOID:9007661 Dwarfism ISO RGD:1323621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12103641 STX6 syntaxin 6 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:731983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12103641 STX6 syntaxin 6 gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:731983 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23516525 12103641 STX6 syntaxin 6 gene DOID:1540 parathyroid carcinoma ISO RGD:731983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12103641 STX6 syntaxin 6 gene DOID:630 genetic disease ISO RGD:731983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12103641 STX6 syntaxin 6 gene DOID:678 progressive supranuclear palsy ISO RGD:731983 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21685912 12103641 STX6 syntaxin 6 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:731983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12103641 STX6 syntaxin 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12103653 ENDOG endonuclease G gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12103653 ENDOG endonuclease G gene DOID:11832 visual epilepsy ISO RGD:1310763 D RGD:9068941 20200609 RGD PMID:20077427|REF_RGD_ID:9685392 12103653 ENDOG endonuclease G gene DOID:2316 brain ischemia ISO RGD:1310763 D RGD:9068941 20200609 RGD PMID:18568342|REF_RGD_ID:9685367 12103653 ENDOG endonuclease G gene DOID:6000 congestive heart failure ISO RGD:1310763 D RGD:9068941 20200609 RGD mRNa:decreased expression:heart: PMID:17292393|REF_RGD_ID:9685393 12103653 ENDOG endonuclease G gene DOID:630 genetic disease ISO RGD:1321856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12103653 ENDOG endonuclease G gene DOID:767 muscular atrophy ISO RGD:1310763 D RGD:9068941 20200609 RGD PMID:15650125|REF_RGD_ID:9685359 12103653 ENDOG endonuclease G gene DOID:9000039 Spinal Cord Injuries ISO RGD:1310763 D RGD:9068941 20200609 RGD PMID:16689664|REF_RGD_ID:8655990 12103653 ENDOG endonuclease G gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1310763 D RGD:9068941 20200609 RGD protein:decreased expression:mitochondrion: PMID:22509279|REF_RGD_ID:9685364 12103660 OXNAD1 oxidoreductase NAD binding domain containing 1 gene DOID:0060417 3p deletion syndrome ISO RGD:1603935 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12103660 OXNAD1 oxidoreductase NAD binding domain containing 1 gene DOID:630 genetic disease ISO RGD:1603935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12103699 PPM1H protein phosphatase, Mg2+/Mn2+ dependent 1H gene DOID:630 genetic disease ISO RGD:1319913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12103713 DLA-DOA HLA class II histocompatibility antigen, DO alpha chain-like gene DOID:0050553 JMP syndrome ISO RGD:1342704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12103713 DLA-DOA HLA class II histocompatibility antigen, DO alpha chain-like gene DOID:0080820 occupational asthma treatment ISO RGD:1342704 D RGD:9068941 20200609 RGD DNA:SNP: :rs3128935(human) PMID:24709764|REF_RGD_ID:13506912 12103713 DLA-DOA HLA class II histocompatibility antigen, DO alpha chain-like gene DOID:409 liver disease ISO RGD:3477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12103713 DLA-DOA HLA class II histocompatibility antigen, DO alpha chain-like gene DOID:9005539 Familial Prostate Cancer ISO RGD:1342704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12103722 ADAM17 ADAM metallopeptidase domain 17 gene DOID:0050855 renal fibrosis ISO RGD:731400 D RGD:9068941 20200609 RGD PMID:22015440|REF_RGD_ID:13703100 12103722 ADAM17 ADAM metallopeptidase domain 17 gene DOID:0060180 colitis ISO RGD:731400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24548422 12103722 ADAM17 ADAM metallopeptidase domain 17 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:731400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 12103722 ADAM17 ADAM metallopeptidase domain 17 gene DOID:10652 Alzheimer's disease ISO RGD:620404 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex, hippocampus PMID:24792732|REF_RGD_ID:13703037 12103722 ADAM17 ADAM metallopeptidase domain 17 gene DOID:10652 Alzheimer's disease onset ISO RGD:731400 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.R215I (rs142946965) (human) PMID:29988083|REF_RGD_ID:13782143 12103722 ADAM17 ADAM metallopeptidase domain 17 gene DOID:14004 thoracic aortic aneurysm ISO RGD:620404 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:20621845|REF_RGD_ID:5129489 12103722 ADAM17 ADAM metallopeptidase domain 17 gene DOID:3310 atopic dermatitis ISO RGD:731401 D RGD:9068941 20220825 MouseDO OMIM:603165 12103722 ADAM17 ADAM metallopeptidase domain 17 gene DOID:5199 ureteral obstruction ISO RGD:731401 D RGD:9068941 20200609 RGD PMID:24103556|REF_RGD_ID:13703030 12103722 ADAM17 ADAM metallopeptidase domain 17 gene DOID:6000 congestive heart failure treatment ISO RGD:620404 D RGD:9068941 20200609 RGD associated with pulmonary hypertension PMID:22628376|REF_RGD_ID:13703064 12103722 ADAM17 ADAM metallopeptidase domain 17 gene DOID:630 genetic disease ISO RGD:731400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12103722 ADAM17 ADAM metallopeptidase domain 17 gene DOID:9000099 Experimental Colitis treatment ISO RGD:620404 D RGD:9068941 20200609 RGD PMID:11884025|REF_RGD_ID:632022 12103722 ADAM17 ADAM metallopeptidase domain 17 gene DOID:9000113 Pneumococcal Meningitis treatment ISO RGD:620404 D RGD:9068941 20200609 RGD PMID:24491581|REF_RGD_ID:13703038 12103722 ADAM17 ADAM metallopeptidase domain 17 gene DOID:9001556 Neonatal Inflammatory Skin and Bowel Disease 1 ISO RGD:731400 D RGD:7240710 20180130 OMIM 12103722 ADAM17 ADAM metallopeptidase domain 17 gene DOID:9001556 Neonatal Inflammatory Skin and Bowel Disease 1 ISO RGD:731400 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory skin and bowel disease, neonatal, 1 PMID:16199547|PMID:17576681|PMID:22010916|PMID:25640679|PMID:25741868|PMID:25804906|PMID:26683521|PMID:28492532|PMID:29560122|PMID:31060243|PMID:32447396|PMID:9536098 12103722 ADAM17 ADAM metallopeptidase domain 17 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12103722 ADAM17 ADAM metallopeptidase domain 17 gene DOID:9002457 Experimental Arthritis ISO RGD:620404 D RGD:9068941 20200609 RGD PMID:23897050|REF_RGD_ID:13703039 12103722 ADAM17 ADAM metallopeptidase domain 17 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:620404 D RGD:9068941 20200609 RGD PMID:15878627|REF_RGD_ID:1559178 12103722 ADAM17 ADAM metallopeptidase domain 17 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:620404 D RGD:9068941 20200609 RGD associated with hypertension PMID:23850346|REF_RGD_ID:13703040 12103722 ADAM17 ADAM metallopeptidase domain 17 gene DOID:9004756 Brain Hypoxia ISO RGD:620404 D RGD:9068941 20200609 RGD PMID:22230263|REF_RGD_ID:13703065 12103722 ADAM17 ADAM metallopeptidase domain 17 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:620404 D RGD:9068941 20200609 RGD PMID:22015440|REF_RGD_ID:13703100 12103722 ADAM17 ADAM metallopeptidase domain 17 gene DOID:9008110 Blister ISO RGD:731400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19167455 12103722 ADAM17 ADAM metallopeptidase domain 17 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731400 D RGD:9068941 20200609 RGD protein:increased activity:artery smooth muscle PMID:19581416|REF_RGD_ID:2313250 12103722 ADAM17 ADAM metallopeptidase domain 17 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731400 D RGD:9068941 20200609 RGD protein:increased activity:skeletal muscle tissue PMID:19633828|REF_RGD_ID:2312470 12103756 CCDC93 coiled-coil domain containing 93 gene DOID:630 genetic disease ISO RGD:1603642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12103790 AHI1 Abelson helper integration site 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1348620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:15322546|PMID:16155189|PMID:16453322|PMID:25525159|PMID:25616960|PMID:25741868|PMID:26035800|PMID:26092869|PMID:28118669|PMID:28442542|PMID:28492532|PMID:29186038 12103790 AHI1 Abelson helper integration site 1 gene DOID:0050777 Joubert syndrome ISO RGD:1348620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:15322546|PMID:15467982|PMID:16155189|PMID:16199547|PMID:16453322|PMID:16541367|PMID:17377524|PMID:17409309|PMID:17576681|PMID:18054307|PMID:18414213|PMID:20301500|PMID:21068128|PMID:21623382|PMID:21866095|PMID:21937992|PMID:22236771|PMID:22693042|PMID:22773737|PMID:23532844|PMID:24033266|PMID:24690944|PMID:25326637|PMID:25356976|PMID:25525159|PMID:25616960|PMID:25640679|PMID:25741868|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26467025|PMID:26541515|PMID:26729329|PMID:26759440|PMID:27434533|PMID:28041643|PMID:28097321|PMID:28118669|PMID:28125082|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:29186038|PMID:29343940|PMID:30755392|PMID:31319225|PMID:31624253|PMID:32335874|PMID:32865313|PMID:33921607|PMID:34191236|PMID:34205586|PMID:34627237|PMID:34906502|PMID:9536098 12103790 AHI1 Abelson helper integration site 1 gene DOID:0060025 immunoglobulin alpha deficiency ISO RGD:1348620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27723758 12103790 AHI1 Abelson helper integration site 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1348620 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype PMID:18782849|REF_RGD_ID:11537389 12103790 AHI1 Abelson helper integration site 1 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1348620 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12103790 AHI1 Abelson helper integration site 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1348620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:15322546|PMID:15467982|PMID:16155189|PMID:16199547|PMID:16453322|PMID:17409309|PMID:17576681|PMID:18054307|PMID:18414213|PMID:21068128|PMID:21623382|PMID:21866095|PMID:21937992|PMID:22236771|PMID:22693042|PMID:22773737|PMID:24033266|PMID:24690944|PMID:25326637|PMID:25356976|PMID:25525159|PMID:25616960|PMID:25640679|PMID:25741868|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26467025|PMID:26729329|PMID:26759440|PMID:28041643|PMID:28118669|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:29186038|PMID:31319225|PMID:32865313|PMID:34906502|PMID:9536098 12103790 AHI1 Abelson helper integration site 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1348620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1 PMID:15322546|PMID:15467982|PMID:16199547|PMID:16453322|PMID:20301500|PMID:25616960|PMID:25741868|PMID:26035800|PMID:28442542|PMID:28492532|PMID:29186038|PMID:32865313 12103790 AHI1 Abelson helper integration site 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1348620 D RGD:7240710 20180130 OMIM 12103790 AHI1 Abelson helper integration site 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1348620 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome 3 PMID:15322546|PMID:15467982|PMID:16155189|PMID:16199547|PMID:16240161|PMID:16453322|PMID:16541367|PMID:17377524|PMID:17409309|PMID:17576681|PMID:18054307|PMID:18414213|PMID:20301500|PMID:21068128|PMID:21623382|PMID:21866095|PMID:21937992|PMID:22236771|PMID:22693042|PMID:22773737|PMID:23532844|PMID:24033266|PMID:24690944|PMID:25326637|PMID:25356976|PMID:25445212|PMID:25525159|PMID:25558065|PMID:25616960|PMID:25741868|PMID:25741869|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26467025|PMID:26541515|PMID:28041643|PMID:28097321|PMID:28118669|PMID:28431631|PMID:28442542|PMID:28492532|PMID:29186038|PMID:29343940|PMID:31130284|PMID:31624253|PMID:32165824|PMID:32865313|PMID:34191236|PMID:34906502|PMID:9536098 12103790 AHI1 Abelson helper integration site 1 gene DOID:0110999 Joubert syndrome 4 ISO RGD:1317734 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R830W (c.2488C>T) (human) PMID:17409309|REF_RGD_ID:7246903 12103790 AHI1 Abelson helper integration site 1 gene DOID:0111589 COACH syndrome ISO RGD:1348620 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Joubert syndrome with ocular defect PMID:15322546|PMID:16453322|PMID:18054307|PMID:21623382|PMID:21937992|PMID:25525159|PMID:25741868|PMID:26092869|PMID:28442542|PMID:28492532|PMID:29186038 12103790 AHI1 Abelson helper integration site 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1348620 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15322546|PMID:16453322|PMID:21866095|PMID:24033266|PMID:25445212|PMID:25741868|PMID:26092869|PMID:28041643|PMID:28431631|PMID:28442542|PMID:28492532|PMID:29186038|PMID:32165824|PMID:34191236 12103790 AHI1 Abelson helper integration site 1 gene DOID:1059 intellectual disability ISO RGD:1348620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:16453322|PMID:25741868|PMID:28492532 12103790 AHI1 Abelson helper integration site 1 gene DOID:12712 nephronophthisis ISO RGD:1348620 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15322546|PMID:16155189|PMID:16453322|PMID:25741868|PMID:26092869|PMID:28442542|PMID:28492532|PMID:29186038 12103790 AHI1 Abelson helper integration site 1 gene DOID:12849 autistic disorder ISO RGD:1348620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18782849 12103790 AHI1 Abelson helper integration site 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1348620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25445212|PMID:25741868|PMID:26092869|PMID:28431631|PMID:28442542|PMID:32165824 12103790 AHI1 Abelson helper integration site 1 gene DOID:2786 cerebellar disease ISO RGD:1348620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20371615 12103790 AHI1 Abelson helper integration site 1 gene DOID:5419 schizophrenia ISO RGD:1348620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20371615 12103790 AHI1 Abelson helper integration site 1 gene DOID:630 genetic disease ISO RGD:1348620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15322546|PMID:16453322|PMID:17409309|PMID:17576681|PMID:21068128|PMID:22693042|PMID:25741868|PMID:28442542|PMID:28492532|PMID:29186038|PMID:9536098 12103790 AHI1 Abelson helper integration site 1 gene DOID:8466 retinal degeneration ISO RGD:1348620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20081859 12103790 AHI1 Abelson helper integration site 1 gene DOID:8501 fundus dystrophy ISO RGD:1348620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15322546|PMID:16155189|PMID:16453322|PMID:18054307|PMID:21068128|PMID:21937992|PMID:24033266|PMID:25525159|PMID:25616960|PMID:25741868|PMID:26035800|PMID:26092869|PMID:28041643|PMID:28442542|PMID:28492532|PMID:29186038|PMID:34191236 12103790 AHI1 Abelson helper integration site 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1348620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:15322546|PMID:23532844|PMID:25558065|PMID:25741868|PMID:28492532|PMID:30755392 12103790 AHI1 Abelson helper integration site 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1348620 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643 12103790 AHI1 Abelson helper integration site 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348620 D RGD:9068941 20200609 RGD mRNA:increased expression:vastus lateralis PMID:20045148|REF_RGD_ID:11537398 12103790 AHI1 Abelson helper integration site 1 gene DOID:9970 obesity ISO RGD:1348620 D RGD:9068941 20200609 RGD mRNA:increased expression:vastus lateralis PMID:20045148|REF_RGD_ID:11537398 12103853 RPSA ribosomal protein SA gene DOID:0110074 arrhythmogenic right ventricular dysplasia 5 ISO RGD:1615177 D RGD:9068941 20220825 MouseDO OMIM:604400 12103853 RPSA ribosomal protein SA gene DOID:11446 sciatic neuropathy ISO RGD:71026 D RGD:9068941 20200609 RGD PMID:19196078|REF_RGD_ID:11041651 12103853 RPSA ribosomal protein SA gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1615177 D RGD:9068941 20220825 MouseDO OMIM:105650 | OMIM:606129 | OMIM:610629 | OMIM:612527 | OMIM:612528 | OMIM:612561 | OMIM:612562 | OMIM:612563 | OMIM:613308 | OMIM:613309 | OMIM:614900 | OMIM:615550 | OMIM:615909 12103853 RPSA ribosomal protein SA gene DOID:3910 lung adenocarcinoma ISO RGD:1344885 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12103853 RPSA ribosomal protein SA gene DOID:9000039 Spinal Cord Injuries ISO RGD:71026 D RGD:9068941 20200609 RGD PMID:19196078|REF_RGD_ID:11041651 12103853 RPSA ribosomal protein SA gene DOID:9003735 Splenic Hypoplasia ISO RGD:1344885 D RGD:7240710 20180130 OMIM 12103853 RPSA ribosomal protein SA gene DOID:9003735 Splenic Hypoplasia ISO RGD:1344885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asplenia, isolated congenital PMID:20846672|PMID:22560297|PMID:23579497|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9162158 12103853 RPSA ribosomal protein SA gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1344885 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 12103853 RPSA ribosomal protein SA gene DOID:9006205 Animal Disease Models ISO RGD:1344885 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12103853 RPSA ribosomal protein SA gene DOID:9778 irritable bowel syndrome ISO RGD:71026 D RGD:9068941 20200609 RGD PMID:20461717|REF_RGD_ID:5686874 12103864 RPN2 ribophorin II gene DOID:2234 focal epilepsy ISO RGD:732277 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12103864 RPN2 ribophorin II gene DOID:5212 congenital disorder of glycosylation ISO RGD:732277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 12103864 RPN2 ribophorin II gene DOID:630 genetic disease ISO RGD:732277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12103864 RPN2 ribophorin II gene DOID:9002304 Prostatic Neoplasms ISO RGD:732277 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12103864 RPN2 ribophorin II gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:732277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:1350540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia PMID:10455016|PMID:10720067|PMID:11549685|PMID:12466376|PMID:14671162|PMID:14715825|PMID:14715826|PMID:14715827|PMID:14747197|PMID:15771555|PMID:1577471|PMID:16569739|PMID:16772352|PMID:16822828|PMID:16849412|PMID:17379008|PMID:19636199|PMID:21340157|PMID:21340163|PMID:21846181|PMID:21966534|PMID:23291414|PMID:23466679|PMID:24033266|PMID:24498484|PMID:2493025|PMID:25741868|PMID:26543560|PMID:2786493|PMID:28008861|PMID:2843762|PMID:28492532|PMID:29595516|PMID:31636948|PMID:33864926|PMID:8396144|PMID:8550762|PMID:9326943|PMID:9601054|PMID:9892022 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:0060043 sexual health disorder ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15890676 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15706422 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:10211 cholelithiasis ISO RGD:1350540 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; DNA:transition:5' utr:-34T>C rs743572 (human) PMID:16381022|REF_RGD_ID:2317619 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:10283 prostate cancer ISO RGD:1350540 D RGD:9068941 20200609 RGD PMID:18645193|REF_RGD_ID:4846627 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:10824 malignant hypertension ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3142437 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:11054 urinary bladder cancer ISO RGD:1350540 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:11446 sciatic neuropathy ISO RGD:2456 D RGD:9068941 20200609 RGD mRNA:decreased expression:spinal cord (rat) PMID:17720801|REF_RGD_ID:4889112 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:11476 osteoporosis ISO RGD:1350540 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:17002564|REF_RGD_ID:1625350 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1350540 D RGD:9068941 20200609 RGD protein:increased activity:ovary follicle, theca cell (human) PMID:11739466|REF_RGD_ID:4888511 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:12336 male infertility ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15890676 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:13938 amenorrhea ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645707 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:1612 breast cancer ISO RGD:1350540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to PMID:16121340|PMID:17192295|PMID:1740503|PMID:20197673|PMID:22309630|PMID:24140098|PMID:26845730|PMID:28492532|PMID:29345162 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1350540 D RGD:9068941 20200609 RGD DNA:transition:5' utr:-34T>C rs743572 (human) PMID:19642097|REF_RGD_ID:2317618 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:1924 hypogonadism ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645707 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1350540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:22508808|PMID:25403219|PMID:28492532|PMID:31639285 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:3121 gallbladder cancer susceptibility ISO RGD:1350540 D RGD:9068941 20200609 RGD DNA:transition:5' utr:-34T>C rs743572 (human) PMID:16381022|REF_RGD_ID:2317619 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:5119 ovarian cyst ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645707 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1350540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1350540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341023 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:9000172 17,20-Lyase Deficiency, Isolated ISO RGD:1350540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 17,20-lyase deficiency, isolated | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial PMID:10455016|PMID:10720067|PMID:11422109|PMID:11549685|PMID:11836339|PMID:12466376|PMID:12706306|PMID:14671162|PMID:14715825|PMID:14715826|PMID:14715827|PMID:14747197|PMID:15713706|PMID:15771555|PMID:1577471|PMID:15811924|PMID:15844475|PMID:16121340|PMID:1621662|PMID:16477341|PMID:16569739|PMID:16772352|PMID:16822828|PMID:16849412|PMID:1714904|PMID:17192295|PMID:17379008|PMID:1740503|PMID:19508587|PMID:20197673|PMID:21340157|PMID:21340163|PMID:21846181|PMID:21966534|PMID:22087567|PMID:22309630|PMID:22954317|PMID:23291414|PMID:2335573|PMID:23466679|PMID:24033266|PMID:24140098|PMID:24498484|PMID:2493025|PMID:25697092|PMID:25741868|PMID:26543560|PMID:26770544|PMID:26845730|PMID:27426448|PMID:2786493|PMID:27959413|PMID:28008861|PMID:2843762|PMID:28492532|PMID:28870780|PMID:29345162|PMID:29595516|PMID:29858860|PMID:33753170|PMID:6976525|PMID:7629254|PMID:8345056|PMID:8550762|PMID:9177409|PMID:9326943|PMID:9435441|PMID:9601054|PMID:9892022 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1350540 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:34426286|PMID:35764155 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:9000734 Oligomenorrhea ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645707 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:9001961 Hyperkalemia ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645707 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15538743|PMID:16424004|PMID:16859836|PMID:16998812|PMID:17592021 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:9005968 Neuralgia ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17720801 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:9006683 Congenital Adrenal Hyperplasia, Type 5 ISO RGD:1350540 D RGD:7240710 20180130 OMIM 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:9006683 Congenital Adrenal Hyperplasia, Type 5 ISO RGD:1350540 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia type 5 PMID:10720067|PMID:10877510|PMID:11243732|PMID:11549685|PMID:11549876|PMID:12466376|PMID:12706306|PMID:14671162|PMID:14715825|PMID:14715827|PMID:14747197|PMID:15771555|PMID:1577471|PMID:15844475|PMID:16121340|PMID:16199547|PMID:1621662|PMID:16477341|PMID:16569739|PMID:16772352|PMID:16822828|PMID:16849412|PMID:1714904|PMID:17192295|PMID:17379008|PMID:1740503|PMID:18422032|PMID:19470621|PMID:19508587|PMID:19636199|PMID:19728179|PMID:19793597|PMID:20170344|PMID:20197673|PMID:21340157|PMID:21340163|PMID:21846181|PMID:21966534|PMID:22087567|PMID:22309630|PMID:22954317|PMID:23291414|PMID:23466679|PMID:24033266|PMID:24140098|PMID:2493025|PMID:25697092|PMID:25741868|PMID:26467025|PMID:26543560|PMID:26770544|PMID:26845730|PMID:26980296|PMID:27426448|PMID:2786493|PMID:27959413|PMID:28008861|PMID:2843762|PMID:28492532|PMID:29278670|PMID:29345162|PMID:29595516|PMID:29858860|PMID:30229581|PMID:33753170|PMID:33864926|PMID:8245018|PMID:8345056|PMID:8550762|PMID:9326943|PMID:9601054|PMID:9855540|PMID:9892022 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:9007456 Female Infertility ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645707 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1350540 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:19913079|PMID:34426286 12103887 CYP17A1 cytochrome P450 family 17 subfamily A member 1 gene DOID:9406 hypopituitarism ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12970278 12103901 C29H8orf34 chromosome 29 C8orf34 homolog gene DOID:630 genetic disease ISO RGD:1605303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12103925 TPD52 tumor protein D52 gene DOID:630 genetic disease ISO RGD:1315573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12103925 TPD52 tumor protein D52 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17875733|PMID:27415467 12103925 TPD52 tumor protein D52 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1315573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 12103943 SCG3 secretogranin III gene DOID:0080445 developmental and epileptic encephalopathy 13 ISO RGD:732003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 12103943 SCG3 secretogranin III gene DOID:2717 Bloom syndrome ISO RGD:732003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12103943 SCG3 secretogranin III gene DOID:5419 schizophrenia ISO RGD:732003 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12103943 SCG3 secretogranin III gene DOID:607 paraplegia ISO RGD:732003 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 12103943 SCG3 secretogranin III gene DOID:630 genetic disease ISO RGD:732003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12103943 SCG3 secretogranin III gene DOID:9256 colorectal cancer ISO RGD:732003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12103962 NRSN1 neurensin 1 gene DOID:11054 urinary bladder cancer ISO RGD:1317257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 12103962 NRSN1 neurensin 1 gene DOID:630 genetic disease ISO RGD:1317257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12103970 UPF3B UPF3B regulator of nonsense mediated mRNA decay gene DOID:0050437 Danon disease ISO RGD:1346078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 12103970 UPF3B UPF3B regulator of nonsense mediated mRNA decay gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12103970 UPF3B UPF3B regulator of nonsense mediated mRNA decay gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1346078 D RGD:7240710 20190619 OMIM 12103970 UPF3B UPF3B regulator of nonsense mediated mRNA decay gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1346078 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:17576681|PMID:17704778|PMID:18414213|PMID:19238151|PMID:22957832|PMID:25741868|PMID:26012578|PMID:26350204|PMID:28492532|PMID:31737052|PMID:9536098 12103970 UPF3B UPF3B regulator of nonsense mediated mRNA decay gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1346078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 12103970 UPF3B UPF3B regulator of nonsense mediated mRNA decay gene DOID:1059 intellectual disability ISO RGD:1346078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12103970 UPF3B UPF3B regulator of nonsense mediated mRNA decay gene DOID:12849 autistic disorder ISO RGD:1346078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12103970 UPF3B UPF3B regulator of nonsense mediated mRNA decay gene DOID:630 genetic disease ISO RGD:1346078 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26012578|PMID:26350204|PMID:28492532 12103970 UPF3B UPF3B regulator of nonsense mediated mRNA decay gene DOID:83 cataract ISO RGD:1346078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract PMID:25741868|PMID:28492532 12103970 UPF3B UPF3B regulator of nonsense mediated mRNA decay gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12103970 UPF3B UPF3B regulator of nonsense mediated mRNA decay gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1346078 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17704778 12103990 OXER1 oxoeicosanoid receptor 1 gene DOID:3883 Lynch syndrome ISO RGD:1346676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12103990 OXER1 oxoeicosanoid receptor 1 gene DOID:630 genetic disease ISO RGD:1346676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12103995 SLC38A10 solute carrier family 38 member 10 gene DOID:630 genetic disease ISO RGD:1601937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104020 PDE7B phosphodiesterase 7B gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:732248 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12104020 PDE7B phosphodiesterase 7B gene DOID:0111955 immunodeficiency 27A ISO RGD:732248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 12104020 PDE7B phosphodiesterase 7B gene DOID:10283 prostate cancer ISO RGD:732248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12104020 PDE7B phosphodiesterase 7B gene DOID:630 genetic disease ISO RGD:732248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104042 AP2A1 adaptor related protein complex 2 subunit alpha 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1314769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12104042 AP2A1 adaptor related protein complex 2 subunit alpha 1 gene DOID:630 genetic disease ISO RGD:1314769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104071 AKIRIN2 akirin 2 gene DOID:630 genetic disease ISO RGD:1317188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104071 AKIRIN2 akirin 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1307791 D RGD:9068941 20200609 RGD PMID:18460465|REF_RGD_ID:2306009 12104080 RDH10 retinol dehydrogenase 10 gene DOID:630 genetic disease ISO RGD:1351497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104080 RDH10 retinol dehydrogenase 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12104080 RDH10 retinol dehydrogenase 10 gene DOID:9001916 Fetal Death ISO RGD:1351497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793605 12104080 RDH10 retinol dehydrogenase 10 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793605 12104090 TGM5 transglutaminase 5 gene DOID:2717 Bloom syndrome ISO RGD:1318367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12104090 TGM5 transglutaminase 5 gene DOID:630 genetic disease ISO RGD:1318367 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16380904|PMID:19440220|PMID:20164844|PMID:22036214|PMID:22622422|PMID:24019772|PMID:24628291|PMID:25644735|PMID:25741868|PMID:26707537|PMID:29242947 12104090 TGM5 transglutaminase 5 gene DOID:9002384 Peeling Skin Syndrome 1 ISO RGD:1318367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peeling skin syndrome 1 PMID:22622422 12104090 TGM5 transglutaminase 5 gene DOID:9002697 Peeling Skin Syndrome 2 ISO RGD:1318367 D RGD:7240710 20180130 OMIM 12104090 TGM5 transglutaminase 5 gene DOID:9002697 Peeling Skin Syndrome 2 ISO RGD:1318367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acral peeling skin syndrome PMID:16380904|PMID:19440220|PMID:20164844|PMID:21469335|PMID:22036214|PMID:22622422|PMID:24019772|PMID:24628291|PMID:25644735|PMID:25741868|PMID:26091878|PMID:26707537|PMID:26925801|PMID:28492532|PMID:29242947 12104090 TGM5 transglutaminase 5 gene DOID:9256 colorectal cancer ISO RGD:1318367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12104110 SSH2 slingshot protein phosphatase 2 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1319710 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 12104110 SSH2 slingshot protein phosphatase 2 gene DOID:630 genetic disease ISO RGD:1319710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104128 P2RX1 purinergic receptor P2X 1 gene DOID:3602 toxic encephalopathy ISO RGD:736780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12104128 P2RX1 purinergic receptor P2X 1 gene DOID:3613 Canavan disease ISO RGD:736780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:12638939|PMID:19932039|PMID:28492532 12104128 P2RX1 purinergic receptor P2X 1 gene DOID:630 genetic disease ISO RGD:736780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104160 GLTPD2 glycolipid transfer protein domain containing 2 gene DOID:630 genetic disease ISO RGD:1604453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104170 DNLZ DNL-type zinc finger gene DOID:0050777 Joubert syndrome ISO RGD:2289758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12104170 DNLZ DNL-type zinc finger gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:2289758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12104170 DNLZ DNL-type zinc finger gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:2289758 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12104170 DNLZ DNL-type zinc finger gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:2289758 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12104170 DNLZ DNL-type zinc finger gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:2289758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12104170 DNLZ DNL-type zinc finger gene DOID:0080324 tuberous sclerosis 1 ISO RGD:2289758 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12104170 DNLZ DNL-type zinc finger gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:2289758 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12104170 DNLZ DNL-type zinc finger gene DOID:0081097 Rafiq syndrome ISO RGD:2289758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12104170 DNLZ DNL-type zinc finger gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:2289758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12104170 DNLZ DNL-type zinc finger gene DOID:3652 Leigh disease ISO RGD:2289758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12104170 DNLZ DNL-type zinc finger gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:2289758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 12104200 SULT4A1 sulfotransferase family 4A member 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:736677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12104200 SULT4A1 sulfotransferase family 4A member 1 gene DOID:1059 intellectual disability ISO RGD:736677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12104200 SULT4A1 sulfotransferase family 4A member 1 gene DOID:630 genetic disease ISO RGD:736677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104211 CTNNAL1 catenin alpha like 1 gene DOID:0080435 developmental and epileptic encephalopathy 37 ISO RGD:1322895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 PMID:28492532 12104211 CTNNAL1 catenin alpha like 1 gene DOID:630 genetic disease ISO RGD:1322895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104244 OR13J1 olfactory receptor family 13 subfamily J member 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1347486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12104244 OR13J1 olfactory receptor family 13 subfamily J member 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1347486 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12104244 OR13J1 olfactory receptor family 13 subfamily J member 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:1347486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12104244 OR13J1 olfactory receptor family 13 subfamily J member 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1347486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12104244 OR13J1 olfactory receptor family 13 subfamily J member 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1347486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12104244 OR13J1 olfactory receptor family 13 subfamily J member 1 gene DOID:630 genetic disease ISO RGD:1347486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104244 OR13J1 olfactory receptor family 13 subfamily J member 1 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1347486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12104244 OR13J1 olfactory receptor family 13 subfamily J member 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1347486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12104244 OR13J1 olfactory receptor family 13 subfamily J member 1 gene DOID:9870 galactosemia ISO RGD:1347486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736657 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:10363917|PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15596469|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16597729|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25590979|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26073431|PMID:26138355|PMID:26148514|PMID:26446091|PMID:26467025|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27054081|PMID:27334371|PMID:27441201|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27781031|PMID:27861786|PMID:27864847|PMID:27888506|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28420012|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28602030|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28867141|PMID:28926830|PMID:28940419|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29314763|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29644095|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29933521|PMID:30109124|PMID:30126342|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30478917|PMID:30776697|PMID:30866059|PMID:30945278|PMID:30977854|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31780880|PMID:32165824|PMID:32179837|PMID:32362866|PMID:32488064|PMID:32581362|PMID:32860008|PMID:3360469|PMID:34354098|PMID:34395220|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9872318 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736657 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:10482260|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20437616|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25052858|PMID:25326635|PMID:25533962|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26073431|PMID:26138355|PMID:26467025|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27054081|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27888506|PMID:28133863|PMID:28399683|PMID:28492532|PMID:28503627|PMID:28687180|PMID:28717674|PMID:28867141|PMID:28940419|PMID:29056246|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29383681|PMID:29390993|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29933521|PMID:30126342|PMID:30185235|PMID:30866059|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31418850|PMID:32165824|PMID:32179837|PMID:32362866|PMID:32488064|PMID:32581362|PMID:32860008|PMID:32917465|PMID:3360469|PMID:33659638|PMID:34354098|PMID:34395220|PMID:9425895|PMID:9536098|PMID:9872318 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16597729|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:17993630|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20437616|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23271449|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25590979|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26070303|PMID:26073431|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26469389|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27030113|PMID:27054081|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27781031|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28420012|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28926830|PMID:28940419|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29314763|PMID:29358611|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29644095|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29760947|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30126342|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30440138|PMID:30478917|PMID:30552426|PMID:30776697|PMID:30866059|PMID:30977854|PMID:31019026|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31780880|PMID:31832524|PMID:31957018|PMID:32139178|PMID:32179837|PMID:32184343|PMID:32362866|PMID:32488064|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32712949|PMID:32770121|PMID:32860008|PMID:32917465|PMID:33333793|PMID:3360469|PMID:33659638|PMID:33754465|PMID:33935161|PMID:34020651|PMID:34055682|PMID:34354098|PMID:34395220|PMID:34489640|PMID:34711204|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9872318 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736657 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:10363917|PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16597729|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:17993630|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20437616|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23271449|PMID:23360469|PMID:23440208|PMID:23453664|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:23959892|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25590979|PMID:25607374|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26070303|PMID:26073431|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26469389|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27030113|PMID:27054081|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27781031|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28420012|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28926830|PMID:28940419|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29314763|PMID:29358611|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29644095|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29760947|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30126342|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30440138|PMID:30478917|PMID:30552426|PMID:30776697|PMID:30866059|PMID:30977854|PMID:31019026|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31302675|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31780880|PMID:31832524|PMID:31957018|PMID:32139178|PMID:32179837|PMID:32184343|PMID:32362866|PMID:32488064|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32712949|PMID:32770121|PMID:32860008|PMID:32917465|PMID:33333793|PMID:3360469|PMID:33659638|PMID:33754465|PMID:33935161|PMID:34020651|PMID:34055682|PMID:34120799|PMID:34354098|PMID:34395220|PMID:34489640|PMID:34711204|PMID:35557555|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9872318 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:736657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:736657 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0060719 autosomal recessive congenital ichthyosis 10 ISO RGD:736657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10 PMID:19453707|PMID:23708187|PMID:24375629|PMID:25741868|PMID:25959266|PMID:26138355|PMID:26704558|PMID:27535030|PMID:28492532|PMID:28733343|PMID:29390993|PMID:29455050|PMID:29852413|PMID:31780880|PMID:32139178|PMID:32917465|PMID:34055682|PMID:34120799|PMID:9425895 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:736657 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0080462 developmental and epileptic encephalopathy 7 ISO RGD:736657 D RGD:7240710 20180130 OMIM 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0080462 developmental and epileptic encephalopathy 7 ISO RGD:736657 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Continuous spike and waves during slow-wave sleep syndrome | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 7 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 7 | ClinVar Annotator: match by term: KCNQ2-Related Neonatal Epileptic Encephalopathy PMID:11572947|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:15030501|PMID:15249611|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17435769|PMID:17475800|PMID:17576681|PMID:17872363|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:19453707|PMID:20437616|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23291709|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:25052858|PMID:25092550|PMID:25262651|PMID:25326635|PMID:25326637|PMID:25473036|PMID:25566516|PMID:25590979|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26070303|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26544041|PMID:26594844|PMID:26704558|PMID:26993267|PMID:27334371|PMID:27479843|PMID:27535030|PMID:27602407|PMID:27734276|PMID:27779742|PMID:27781029|PMID:27861786|PMID:27864847|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28973083|PMID:29056246|PMID:29190809|PMID:29263209|PMID:29314763|PMID:29383681|PMID:29390993|PMID:29455050|PMID:29644095|PMID:29655203|PMID:29726930|PMID:29760947|PMID:29852413|PMID:30109124|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30440138|PMID:30478917|PMID:30515704|PMID:30552426|PMID:30776697|PMID:31105003|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31780880|PMID:31832524|PMID:32139178|PMID:32179837|PMID:32184343|PMID:32362866|PMID:32488064|PMID:32573669|PMID:32581362|PMID:32585800|PMID:32712949|PMID:32770121|PMID:32860008|PMID:32917465|PMID:33333793|PMID:33659638|PMID:33754465|PMID:34055682|PMID:34120799|PMID:34354098|PMID:34395220|PMID:34711204|PMID:35557555|PMID:9425895|PMID:9430594|PMID:9536098|PMID:9872318 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:736657 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:30866059 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 PMID:14534157|PMID:23692823|PMID:25741868|PMID:27779742|PMID:28492532 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:736657 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:736657 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:25741868|PMID:27535030|PMID:28492532 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736657 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:10482260|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25052858|PMID:25326635|PMID:25533962|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26073431|PMID:26138355|PMID:26467025|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27054081|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27888506|PMID:28133863|PMID:28399683|PMID:28492532|PMID:28503627|PMID:28687180|PMID:28717674|PMID:28867141|PMID:28940419|PMID:29056246|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29383681|PMID:29390993|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29933521|PMID:30126342|PMID:30185235|PMID:30866059|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31418850|PMID:32165824|PMID:32179837|PMID:32362866|PMID:32488064|PMID:32581362|PMID:32860008|PMID:32917465|PMID:3360469|PMID:33659638|PMID:34354098|PMID:34395220|PMID:9425895|PMID:9536098|PMID:9872318 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736657 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy PMID:10363917|PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16597729|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:17993630|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20437616|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23271449|PMID:23360469|PMID:23440208|PMID:23453664|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:23959892|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25590979|PMID:25607374|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26070303|PMID:26073431|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26469389|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27030113|PMID:27054081|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27781031|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28420012|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28926830|PMID:28940419|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29314763|PMID:29358611|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29644095|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29760947|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30126342|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30440138|PMID:30478917|PMID:30552426|PMID:30776697|PMID:30866059|PMID:30977854|PMID:31019026|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31302675|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31780880|PMID:31832524|PMID:31957018|PMID:32139178|PMID:32179837|PMID:32184343|PMID:32362866|PMID:32488064|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32712949|PMID:32770121|PMID:32860008|PMID:32917465|PMID:33333793|PMID:3360469|PMID:33659638|PMID:33754465|PMID:33935161|PMID:34020651|PMID:34055682|PMID:34120799|PMID:34354098|PMID:34395220|PMID:34489640|PMID:34711204|PMID:35557555|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9872318 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:1059 intellectual disability ISO RGD:736657 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:22275249|PMID:22926866|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28139826|PMID:28492532|PMID:28602030|PMID:28628100|PMID:28867141|PMID:29190809|PMID:30185235|PMID:32362866|PMID:32860008|PMID:34354098|PMID:34395220 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:1059 intellectual disability ISO RGD:736657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:22275249|PMID:22926866|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28139826|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29190809|PMID:30185235|PMID:32362866|PMID:32860008|PMID:33754465|PMID:34354098|PMID:34395220 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:12849 autistic disorder ISO RGD:736657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25533962|PMID:25741868|PMID:28492532|PMID:28867141 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:14264 benign neonatal seizures ISO RGD:736657 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:18625963|PMID:19464834|PMID:28492532 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:736657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign familial neonatal seizures PMID:18625963|PMID:19464834|PMID:28492532 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:1826 epilepsy ISO RGD:736657 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizures PMID:11690625|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17475800|PMID:18414213|PMID:18483067|PMID:19380078|PMID:19453707|PMID:20119593|PMID:21685056|PMID:22013194|PMID:22275249|PMID:22926866|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23708187|PMID:24107868|PMID:24375629|PMID:24586341|PMID:24904429|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26138355|PMID:26467025|PMID:26704558|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28399683|PMID:28492532|PMID:28717674|PMID:28867141|PMID:29056246|PMID:29263209|PMID:29383681|PMID:29655203|PMID:29720203|PMID:30185235|PMID:31152295|PMID:31199083|PMID:32362866|PMID:32860008|PMID:3360469|PMID:34354098|PMID:34395220|PMID:9425895|PMID:9872318 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:1826 epilepsy ISO RGD:736657 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:11690625|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17475800|PMID:18414213|PMID:18483067|PMID:19380078|PMID:19453707|PMID:20119593|PMID:21685056|PMID:22013194|PMID:22275249|PMID:22926866|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23708187|PMID:24107868|PMID:24375629|PMID:24586341|PMID:24904429|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26138355|PMID:26467025|PMID:26704558|PMID:26795593|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28399683|PMID:28492532|PMID:28717674|PMID:28867141|PMID:29056246|PMID:29263209|PMID:29383681|PMID:29655203|PMID:29720203|PMID:30185235|PMID:31152295|PMID:31199083|PMID:32362866|PMID:32860008|PMID:3360469|PMID:34354098|PMID:34395220|PMID:9425895|PMID:9872318 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:1826 epilepsy ISO RGD:736657 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:11690625|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17475800|PMID:18414213|PMID:18483067|PMID:19380078|PMID:19453707|PMID:20119593|PMID:20437616|PMID:21685056|PMID:22013194|PMID:22275249|PMID:22926866|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23708187|PMID:24107868|PMID:24318194|PMID:24375629|PMID:24586341|PMID:24904429|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26138355|PMID:26467025|PMID:26704558|PMID:26795593|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28399683|PMID:28492532|PMID:28717674|PMID:28867141|PMID:29056246|PMID:29263209|PMID:29383681|PMID:29655203|PMID:29720203|PMID:30185235|PMID:31152295|PMID:31199083|PMID:32362866|PMID:32860008|PMID:3360469|PMID:34354098|PMID:34395220|PMID:9425895|PMID:9872318 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:1826 epilepsy ISO RGD:736657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:11690625|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17576681|PMID:20119593|PMID:22275249|PMID:22926866|PMID:23360469|PMID:23621294|PMID:23692823|PMID:24107868|PMID:24318194|PMID:25533962|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25982755|PMID:26795593|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28133863|PMID:28492532|PMID:28867141|PMID:29056246|PMID:29655203|PMID:29720203|PMID:32860008|PMID:3360469|PMID:34711204|PMID:9536098 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:736657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign Rolandic epilepsy PMID:18625963 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:543 dystonia ISO RGD:736657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Limb dystonia PMID:12754513|PMID:22275249|PMID:24318194|PMID:25741868|PMID:25880994|PMID:28492532|PMID:29760947|PMID:31152295|PMID:31832524|PMID:32139178|PMID:32573669|PMID:32581362|PMID:32917465|PMID:34711204 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:630 genetic disease ISO RGD:736657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10684873|PMID:11572947|PMID:11690625|PMID:12742592|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17475800|PMID:17872363|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:19380078|PMID:19453707|PMID:20119593|PMID:20437616|PMID:21685056|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24375629|PMID:24586341|PMID:24904429|PMID:25262651|PMID:25740509|PMID:25741868|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26070303|PMID:26138355|PMID:26467025|PMID:26704558|PMID:26795593|PMID:26993267|PMID:27334371|PMID:27466704|PMID:27479843|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27888506|PMID:28133863|PMID:28399683|PMID:28492532|PMID:28628100|PMID:28717674|PMID:28867141|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29263209|PMID:29314763|PMID:29358611|PMID:29383681|PMID:29390993|PMID:29655203|PMID:29760947|PMID:30185235|PMID:30440138|PMID:30552426|PMID:31105003|PMID:31152295|PMID:31199083|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31780880|PMID:31832524|PMID:32139178|PMID:32362866|PMID:32573669|PMID:32581362|PMID:32770121|PMID:32917465|PMID:33333793|PMID:3360469|PMID:33754465|PMID:34354098|PMID:34395220|PMID:34711204|PMID:35104249|PMID:9425895|PMID:9836639|PMID:9872318 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:863 nervous system disease ISO RGD:736657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20805988 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9000419 Benign Familial Neonatal Seizures, 1 ISO RGD:736657 D RGD:7240710 20180130 OMIM 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9000419 Benign Familial Neonatal Seizures, 1 ISO RGD:736657 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1 | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1, and/or myokymia PMID:10323247|PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14669214|PMID:14985406|PMID:15030501|PMID:15178210|PMID:15249611|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16686649|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:17993630|PMID:18006581|PMID:18246739|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19559753|PMID:19818940|PMID:20119593|PMID:20437616|PMID:21913284|PMID:21937445|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23290024|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24375629|PMID:24586341|PMID:24759409|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26073431|PMID:26138355|PMID:26467025|PMID:26544041|PMID:26704558|PMID:26993267|PMID:27334371|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28399683|PMID:2847176|PMID:28492532|PMID:28628100|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29655203|PMID:29726930|PMID:29852413|PMID:29933521|PMID:30126342|PMID:30185235|PMID:30440138|PMID:30478917|PMID:31019026|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31780880|PMID:32139178|PMID:32184343|PMID:32362866|PMID:32860008|PMID:32917465|PMID:3360469|PMID:33659638|PMID:33754465|PMID:34020651|PMID:34055682|PMID:34120799|PMID:34354098|PMID:34395220|PMID:34711204|PMID:35557555|PMID:4055306|PMID:7980108|PMID:9425895|PMID:9430594|PMID:9536098|PMID:9872318 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:736657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:20437616|PMID:23621294|PMID:23692823|PMID:23934111|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25741868|PMID:25880994|PMID:25959266|PMID:26007637|PMID:27535030|PMID:27602407|PMID:27864847|PMID:27905566|PMID:28133863|PMID:28492532|PMID:28973083|PMID:29186148|PMID:29655203|PMID:31418850|PMID:32179837|PMID:32581362 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9003109 Benign Familial Neonatal Seizures, 2 ISO RGD:736657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant form of benign neonatal seizures | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 2 PMID:12742592|PMID:15249611|PMID:17129708|PMID:18625963|PMID:19464834|PMID:28492532|PMID:29314763|PMID:31199083 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:12754513|PMID:22275249|PMID:24318194|PMID:25741868|PMID:25880994|PMID:28492532|PMID:29760947|PMID:31152295|PMID:31832524|PMID:32139178|PMID:32573669|PMID:32581362|PMID:32917465|PMID:34711204 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9006888 Benign Neonatal Epilepsy, 1 ISO RGD:736657 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Benign Neonatal Epilepsy 1 PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17475800|PMID:17576681|PMID:17872363|PMID:17993630|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19559753|PMID:20119593|PMID:20437616|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24375629|PMID:24586341|PMID:24759409|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26073431|PMID:26138355|PMID:26467025|PMID:26544041|PMID:26704558|PMID:26993267|PMID:27334371|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28399683|PMID:2847176|PMID:28492532|PMID:28628100|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29655203|PMID:29726930|PMID:29852413|PMID:29933521|PMID:30126342|PMID:30185235|PMID:30440138|PMID:30478917|PMID:31019026|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31780880|PMID:32139178|PMID:32184343|PMID:32362866|PMID:32860008|PMID:32917465|PMID:3360469|PMID:33659638|PMID:33754465|PMID:34020651|PMID:34055682|PMID:34120799|PMID:34354098|PMID:34395220|PMID:34711204|PMID:35557555|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9872318 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9008086 Developmental Disabilities ISO RGD:736657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:12754513|PMID:22275249|PMID:24318194|PMID:25741868|PMID:25880994|PMID:28492532|PMID:29760947|PMID:31152295|PMID:31832524|PMID:32139178|PMID:32573669|PMID:32581362|PMID:32917465|PMID:34711204 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9008347 Benign Neonatal Epilepsy 1, and/or Myokymia ISO RGD:736657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, benign neonatal, 1, and/or myokymia PMID:24375629|PMID:25741868 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:736657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 12104248 KCNQ2 potassium voltage-gated channel subfamily Q member 2 gene DOID:936 brain disease ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868|PMID:28492532 12104280 TM9SF3 transmembrane 9 superfamily member 3 gene DOID:630 genetic disease ISO RGD:1604607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104310 LOC100684332 glycosyl-phosphatidylinositol-anchored molecule-like protein gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1317284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 12104310 LOC100684332 glycosyl-phosphatidylinositol-anchored molecule-like protein gene DOID:4621 holoprosencephaly ISO RGD:1317284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12104310 LOC100684332 glycosyl-phosphatidylinositol-anchored molecule-like protein gene DOID:630 genetic disease ISO RGD:1317284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104315 AHSP alpha hemoglobin stabilizing protein gene DOID:630 genetic disease ISO RGD:1315507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104324 TESK1 testis associated actin remodelling kinase 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:732889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12104324 TESK1 testis associated actin remodelling kinase 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:732889 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12104324 TESK1 testis associated actin remodelling kinase 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:732889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12104324 TESK1 testis associated actin remodelling kinase 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:732889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12104324 TESK1 testis associated actin remodelling kinase 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:732889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12104324 TESK1 testis associated actin remodelling kinase 1 gene DOID:630 genetic disease ISO RGD:732889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104324 TESK1 testis associated actin remodelling kinase 1 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:732889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12104324 TESK1 testis associated actin remodelling kinase 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:732889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12104324 TESK1 testis associated actin remodelling kinase 1 gene DOID:9870 galactosemia ISO RGD:732889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12104339 MIR29B-1 microRNA mir-29b-1 gene DOID:0060224 atrial fibrillation disease_progression ISO RGD:1347389 D RGD:9068941 20230330 RGD RNA:increased expression:blood serum (human) PMID:34887365|REF_RGD_ID:242905206 12104339 MIR29B-1 microRNA mir-29b-1 gene DOID:14330 Parkinson's disease ISO RGD:1347389 D RGD:9068941 20200609 RGD PMID:22003392|REF_RGD_ID:10755479 12104339 MIR29B-1 microRNA mir-29b-1 gene DOID:3525 middle cerebral artery infarction exacerbates ISO RGD:2325591 D RGD:9068941 20230330 RGD PMID:35322553|REF_RGD_ID:242905190 12104339 MIR29B-1 microRNA mir-29b-1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1347389 D RGD:9068941 20200609 RGD PMID:23591808|REF_RGD_ID:13464324 12104339 MIR29B-1 microRNA mir-29b-1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347389 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12104339 MIR29B-1 microRNA mir-29b-1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347389 D RGD:9068941 20200609 RGD RNA:increased expression:arteriole PMID:29374012|REF_RGD_ID:13702880 12104339 MIR29B-1 microRNA mir-29b-1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347389 D RGD:9068941 20230401 RGD RNA:increased expression:blood serum (human) PMID:33116722|REF_RGD_ID:243048436 12104391 DCTN6 dynactin subunit 6 gene DOID:630 genetic disease ISO RGD:1316808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104402 INPP1 inositol polyphosphate-1-phosphatase gene DOID:0111944 immunodeficiency 31B ISO RGD:1314476 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 12104402 INPP1 inositol polyphosphate-1-phosphatase gene DOID:12849 autistic disorder ISO RGD:1314476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14627686 12104402 INPP1 inositol polyphosphate-1-phosphatase gene DOID:630 genetic disease ISO RGD:1314476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104402 INPP1 inositol polyphosphate-1-phosphatase gene DOID:674 cleft palate ISO RGD:1314476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate 12104402 INPP1 inositol polyphosphate-1-phosphatase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12104415 WNT11 Wnt family member 11 gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1344477 D RGD:9068941 20211217 RGD DNA:SNP:exon: A>G (rs1533767) (human) PMID:21393552|REF_RGD_ID:150530486 12104415 WNT11 Wnt family member 11 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1344477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex 12104415 WNT11 Wnt family member 11 gene DOID:1059 intellectual disability ISO RGD:1344477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12104415 WNT11 Wnt family member 11 gene DOID:10892 hypospadias ISO RGD:1344477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:25741868 12104415 WNT11 Wnt family member 11 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1344477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25783350 12104415 WNT11 Wnt family member 11 gene DOID:4450 renal cell carcinoma ISO RGD:1344477 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:increased in a single case PMID:11712081|REF_RGD_ID:2299947 12104415 WNT11 Wnt family member 11 gene DOID:630 genetic disease ISO RGD:1344477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104415 WNT11 Wnt family member 11 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1344477 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:increased expression in 4/4 cases with Gleason sum score >= 7, also in progression from androgen-dependence to androgen-independence in xenografts PMID:15520198|REF_RGD_ID:2299946 12104415 WNT11 Wnt family member 11 gene DOID:9006205 Animal Disease Models ISO RGD:1344477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25783350 12104415 WNT11 Wnt family member 11 gene DOID:9007828 Abnormalities, Drug-Induced ISO RGD:1344477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25783350 12104428 DLG5 discs large MAGUK scaffold protein 5 gene DOID:630 genetic disease ISO RGD:1318707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104428 DLG5 discs large MAGUK scaffold protein 5 gene DOID:9002672 Generalized Epilepsy and Paroxysmal Dyskinesia ISO RGD:1318707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy PMID:28492532 12104428 DLG5 discs large MAGUK scaffold protein 5 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1318707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 12104467 ELFN1 extracellular leucine rich repeat and fibronectin type III domain containing 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1642766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and Epileptic Encephalopathy with Joint Laxity PMID:24312227|PMID:34509675 12104467 ELFN1 extracellular leucine rich repeat and fibronectin type III domain containing 1 gene DOID:630 genetic disease ISO RGD:1642766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104492 KLHL30 kelch like family member 30 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1606872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12104492 KLHL30 kelch like family member 30 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1606872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12104492 KLHL30 kelch like family member 30 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1606872 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12104492 KLHL30 kelch like family member 30 gene DOID:1059 intellectual disability ISO RGD:1606872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12104492 KLHL30 kelch like family member 30 gene DOID:630 genetic disease ISO RGD:1606872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104492 KLHL30 kelch like family member 30 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1606872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12104504 AP1M1 adaptor related protein complex 1 subunit mu 1 gene DOID:630 genetic disease ISO RGD:1316969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104524 MSI1 musashi RNA binding protein 1 gene DOID:2316 brain ischemia ISO RGD:628778 D RGD:9068941 20200609 RGD PMID:12205668|REF_RGD_ID:633285 12104524 MSI1 musashi RNA binding protein 1 gene DOID:3454 brain infarction ISO RGD:628778 D RGD:9068941 20200609 RGD PMID:15250238|REF_RGD_ID:1582664 12104524 MSI1 musashi RNA binding protein 1 gene DOID:630 genetic disease ISO RGD:731816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104553 LIPE lipase E, hormone sensitive type gene DOID:0050440 familial partial lipodystrophy ISO RGD:737132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12104553 LIPE lipase E, hormone sensitive type gene DOID:0070206 familial partial lipodystrophy type 6 ISO RGD:737132 D RGD:7240710 20180912 OMIM 12104553 LIPE lipase E, hormone sensitive type gene DOID:0070206 familial partial lipodystrophy type 6 ISO RGD:737132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LIPE-related familial partial lipodystrophy PMID:25741868 12104553 LIPE lipase E, hormone sensitive type gene DOID:10763 hypertension ISO RGD:737132 D RGD:9068941 20200609 RGD gestational hypertension;DNA:polymorphism:promoter:-60C>G PMID:17318300|REF_RGD_ID:1625026 12104553 LIPE lipase E, hormone sensitive type gene DOID:114 heart disease ISO RGD:3010 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18413675|REF_RGD_ID:2313583 12104553 LIPE lipase E, hormone sensitive type gene DOID:1339 Diamond-Blackfan anemia ISO RGD:737132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12104553 LIPE lipase E, hormone sensitive type gene DOID:1342 congenital hypoplastic anemia ISO RGD:737132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12104553 LIPE lipase E, hormone sensitive type gene DOID:2340 craniosynostosis ISO RGD:737132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12104553 LIPE lipase E, hormone sensitive type gene DOID:2349 arteriosclerosis ISO RGD:3010 D RGD:9068941 20200609 RGD PMID:10064727|REF_RGD_ID:1581868 12104553 LIPE lipase E, hormone sensitive type gene DOID:2349 arteriosclerosis ISO RGD:737132 D RGD:9068941 20200609 RGD PMID:10729384|REF_RGD_ID:1581867 12104553 LIPE lipase E, hormone sensitive type gene DOID:5419 schizophrenia ISO RGD:737132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12104553 LIPE lipase E, hormone sensitive type gene DOID:630 genetic disease ISO RGD:737132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104553 LIPE lipase E, hormone sensitive type gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:737132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12104553 LIPE lipase E, hormone sensitive type gene DOID:9006599 Hypertriglyceridemia ISO RGD:3010 D RGD:9068941 20200609 RGD PMID:11016888|REF_RGD_ID:2313581 12104553 LIPE lipase E, hormone sensitive type gene DOID:9006646 Metabolic Syndrome ISO RGD:10872 D RGD:9068941 20230427 RGD mRNA:increased expression:liver (mouse) PMID:29684438|REF_RGD_ID:329333017 12104553 LIPE lipase E, hormone sensitive type gene DOID:9269 maple syrup urine disease ISO RGD:737132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12104553 LIPE lipase E, hormone sensitive type gene DOID:9352 type 2 diabetes mellitus ISO RGD:737132 D RGD:9068941 20200609 RGD mRNA:decreased expression:subcutaneous adipose tissue PMID:15609025|REF_RGD_ID:2313584 12104553 LIPE lipase E, hormone sensitive type gene DOID:9970 obesity ISO RGD:3010 D RGD:9068941 20200609 RGD mRNA:decreased expression:white fat PMID:17712951|REF_RGD_ID:2313580 12104582 ADORA3 adenosine A3 receptor gene DOID:0080600 COVID-19 ISO RGD:735600 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12104582 ADORA3 adenosine A3 receptor gene DOID:326 ischemia ISO RGD:735600 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7774659 12104582 ADORA3 adenosine A3 receptor gene DOID:5844 myocardial infarction ISO RGD:735600 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12160945|PMID:20132822 12104582 ADORA3 adenosine A3 receptor gene DOID:630 genetic disease ISO RGD:735600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104582 ADORA3 adenosine A3 receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735600 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:0050169 cutaneous lupus erythematosus ISO RGD:1345616 D RGD:9068941 20200609 RGD PMID:21844117|REF_RGD_ID:6892918 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:0060189 ileitis ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:21945903|REF_RGD_ID:6892917 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:0060496 respiratory allergy ISO RGD:1345616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20022477 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:0080600 COVID-19 ISO RGD:1345616 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1345616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1345616 D RGD:9068941 20200609 RGD PMID:20022477|REF_RGD_ID:4145619 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:10247 pleurisy ISO RGD:733966 D RGD:9068941 20200609 RGD associated with Mycobacterium Infections PMID:17158890|REF_RGD_ID:4145643 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:11204 allergic conjunctivitis ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:18658092|REF_RGD_ID:6893389 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:11382 corneal neovascularization ISO RGD:733966 D RGD:9068941 20200609 RGD mRNA:increased expression:cornea PMID:20610836|REF_RGD_ID:6892921 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:12132 granulomatosis with polyangiitis ISO RGD:1345616 D RGD:9068941 20200609 RGD protein:increased expression:blood, T cell PMID:12716450|REF_RGD_ID:6893409 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:12132 granulomatosis with polyangiitis ISO RGD:1345616 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium PMID:11529927|REF_RGD_ID:4145634 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:13922 eosinophilic esophagitis ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:1316818|REF_RGD_ID:6893390 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:1485 cystic fibrosis ISO RGD:1345616 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion, neutrophil PMID:19017998|REF_RGD_ID:4145632 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:1555 urticaria ISO RGD:1345616 D RGD:9068941 20200609 RGD PMID:15721839|REF_RGD_ID:6893392 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:1824 status epilepticus ISO RGD:1345616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19490431 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:2043 hepatitis B ISO RGD:1345616 D RGD:9068941 20200609 RGD PMID:19185001|REF_RGD_ID:6893388 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:2152 ovary epithelial cancer severity ISO RGD:1345616 D RGD:9068941 20200609 RGD DNA:silent mutation:cds: (rs4987053) (human) PMID:20103664|REF_RGD_ID:6893445 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:2377 multiple sclerosis ISO RGD:1345616 D RGD:9068941 20200609 RGD PMID:21427490|REF_RGD_ID:6892919 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:2841 asthma ISO RGD:1345616 D RGD:9068941 20200609 RGD DNA:SNP:exon:51T>C (human) PMID:20220260|REF_RGD_ID:4145638 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:2841 asthma ISO RGD:1345616 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion, neutrophil PMID:19017998|REF_RGD_ID:4145632 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:2841 asthma ISO RGD:620593 D RGD:9068941 20200609 RGD PMID:16978084|REF_RGD_ID:4145646 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:2841 asthma ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:17145927|PMID:18699933|PMID:19657453|PMID:20134116|REF_RGD_ID:1601020|REF_RGD_ID:4145618|REF_RGD_ID:4145623|REF_RGD_ID:4145633 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:2945 severe acute respiratory syndrome ISO RGD:733966 D RGD:9068941 20200619 RGD mRNA:altered expression:lung (mouse) PMID:15356152|REF_RGD_ID:30309221 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:3042 allergic contact dermatitis ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:22075493|REF_RGD_ID:6892916 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1345616 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion, neutrophil PMID:19017998|REF_RGD_ID:4145632 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:3310 atopic dermatitis ISO RGD:1345616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:3310 atopic dermatitis ISO RGD:1345616 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:16449815|REF_RGD_ID:6893391 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:3770 pulmonary fibrosis ISO RGD:1345616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16314464 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:3770 pulmonary fibrosis ISO RGD:733966 D RGD:9068941 20200609 RGD associated with Lung Injury PMID:16314464|REF_RGD_ID:4145395 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:4483 rhinitis ISO RGD:1345616 D RGD:9068941 20200609 RGD DNA:SNP:exon:51T>C (human) PMID:17135764|REF_RGD_ID:4145111 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:4483 rhinitis ISO RGD:1345616 D RGD:9068941 20200609 RGD protein:increased expression:blood, T cell PMID:17156343|REF_RGD_ID:4145645 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:4483 rhinitis ISO RGD:620593 D RGD:9068941 20200609 RGD mRNA:increased expression:nose PMID:20696593|REF_RGD_ID:4145454 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:4617 periapical granuloma ISO RGD:1345616 D RGD:9068941 20200609 RGD PMID:11683586|REF_RGD_ID:6893426 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10202824 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:552 pneumonia ISO RGD:733966 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19762220|REF_RGD_ID:4145622 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:5844 myocardial infarction ISO RGD:620593 D RGD:9068941 20200609 RGD PMID:18954648|REF_RGD_ID:4890013 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:630 genetic disease ISO RGD:1345616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1345616 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid, neutrophil PMID:19017998|REF_RGD_ID:4145632 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1345616 D RGD:9068941 20200609 RGD PMID:19842835|REF_RGD_ID:4145620 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:8577 ulcerative colitis ISO RGD:1345616 D RGD:9068941 20200609 RGD PMID:21077277|REF_RGD_ID:6892920 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:19787232|REF_RGD_ID:6893387 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1345616 D RGD:9068941 20200609 RGD associated with Macular Degeneration PMID:19525930|REF_RGD_ID:6893454 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:9001044 Choroidal Neovascularization ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:19525930|REF_RGD_ID:6893454 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:9001371 Eosinophilia ISO RGD:1345616 D RGD:9068941 20200609 RGD associated with Asthma PMID:17983872|REF_RGD_ID:4145642 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:15034073|REF_RGD_ID:6893394 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1345616 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:9004001 Facial Nerve Injuries ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:19922414|REF_RGD_ID:6892922 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:21621198|REF_RGD_ID:6893427 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1345616 D RGD:9068941 20200609 RGD PMID:21180278|REF_RGD_ID:6893428 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:9146 visceral leishmaniasis ISO RGD:1345616 D RGD:9068941 20200609 RGD protein:increased expression:blood, T cell PMID:15379987|REF_RGD_ID:6893393 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:9471 meningitis ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:19887061|REF_RGD_ID:6892923 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:9498 pulmonary eosinophilia ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:20732990|REF_RGD_ID:4145617 12104593 CCR3 C-C motif chemokine receptor 3 gene DOID:9970 obesity ISO RGD:1345616 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue PMID:18492752|REF_RGD_ID:6483834 12104606 CRISP2 cysteine rich secretory protein 2 gene DOID:11372 megacolon ISO RGD:1315322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12104606 CRISP2 cysteine rich secretory protein 2 gene DOID:630 genetic disease ISO RGD:1315322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104622 OTUD4 OTU deubiquitinase 4 gene DOID:13938 amenorrhea ISO RGD:1603307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 12104622 OTUD4 OTU deubiquitinase 4 gene DOID:630 genetic disease ISO RGD:1603307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104653 ALDH3B1 aldehyde dehydrogenase 3 family member B1 gene DOID:0060041 autism spectrum disorder ISO RGD:1349903 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12104653 ALDH3B1 aldehyde dehydrogenase 3 family member B1 gene DOID:1059 intellectual disability ISO RGD:1349903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12104653 ALDH3B1 aldehyde dehydrogenase 3 family member B1 gene DOID:630 genetic disease ISO RGD:1349903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104653 ALDH3B1 aldehyde dehydrogenase 3 family member B1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1349903 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12104653 ALDH3B1 aldehyde dehydrogenase 3 family member B1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1349903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12104669 UBQLN1 ubiquilin 1 gene DOID:630 genetic disease ISO RGD:731465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104669 UBQLN1 ubiquilin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747970 12104688 SAFB2 scaffold attachment factor B2 gene DOID:10283 prostate cancer ISO RGD:1342747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12104688 SAFB2 scaffold attachment factor B2 gene DOID:630 genetic disease ISO RGD:1342747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104718 PRPS2 phosphoribosyl pyrophosphate synthetase 2 gene DOID:12849 autistic disorder ISO RGD:737326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12104718 PRPS2 phosphoribosyl pyrophosphate synthetase 2 gene DOID:630 genetic disease ISO RGD:737326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104718 PRPS2 phosphoribosyl pyrophosphate synthetase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12104735 NUCB2 nucleobindin 2 gene DOID:1059 intellectual disability ISO RGD:734220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12104735 NUCB2 nucleobindin 2 gene DOID:630 genetic disease ISO RGD:734220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104735 NUCB2 nucleobindin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:734220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12104735 NUCB2 nucleobindin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:620888 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas: PMID:20032201|REF_RGD_ID:9831177 12104735 NUCB2 nucleobindin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734220 D RGD:9068941 20200609 RGD mRNA:decreased expression:islet of Langerhans: PMID:22108805|REF_RGD_ID:9831161 12104735 NUCB2 nucleobindin 2 gene DOID:9970 obesity ISO RGD:620888 D RGD:9068941 20200609 RGD protein:increased expression:adipose tissue: PMID:22641054|REF_RGD_ID:9831187 12104757 LAMC1 laminin subunit gamma 1 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1318553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12104757 LAMC1 laminin subunit gamma 1 gene DOID:0080600 COVID-19 ISO RGD:1318553 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12104757 LAMC1 laminin subunit gamma 1 gene DOID:14323 Marfan syndrome ISO RGD:1318553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 12104757 LAMC1 laminin subunit gamma 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1318553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12104757 LAMC1 laminin subunit gamma 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1318553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 12104757 LAMC1 laminin subunit gamma 1 gene DOID:520 aortic disease ISO RGD:1318553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 12104757 LAMC1 laminin subunit gamma 1 gene DOID:630 genetic disease ISO RGD:1318553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104757 LAMC1 laminin subunit gamma 1 gene DOID:9000165 Neuromuscular Manifestations ISO RGD:1318553 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:30476904 12104757 LAMC1 laminin subunit gamma 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12104757 LAMC1 laminin subunit gamma 1 gene DOID:9002955 Nerve Degeneration ISO RGD:1318553 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:30476904 12104757 LAMC1 laminin subunit gamma 1 gene DOID:9007402 Gliosis ISO RGD:1318553 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:30476904 12104757 LAMC1 laminin subunit gamma 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1318553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12104757 LAMC1 laminin subunit gamma 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12104789 APPBP2 amyloid beta precursor protein binding protein 2 gene DOID:0050777 Joubert syndrome ISO RGD:1315134 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12104789 APPBP2 amyloid beta precursor protein binding protein 2 gene DOID:11372 megacolon ISO RGD:1315134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12104789 APPBP2 amyloid beta precursor protein binding protein 2 gene DOID:630 genetic disease ISO RGD:1315134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104806 ELOVL4 ELOVL fatty acid elongase 4 gene DOID:0050817 Stargardt disease ISO RGD:1313773 D RGD:9068941 20220825 MouseDO OMIM:248200 | OMIM:600110 | OMIM:603786 12104806 ELOVL4 ELOVL fatty acid elongase 4 gene DOID:0050952 spastic ataxia ISO RGD:1313772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 12104806 ELOVL4 ELOVL fatty acid elongase 4 gene DOID:0050981 spinocerebellar ataxia type 34 ISO RGD:1313772 D RGD:7240710 20180425 OMIM 12104806 ELOVL4 ELOVL fatty acid elongase 4 gene DOID:0050981 spinocerebellar ataxia type 34 ISO RGD:1313772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 34 PMID:24566826|PMID:25741868|PMID:26010696|PMID:28492532|PMID:28559085|PMID:30065956|PMID:31105016|PMID:31692161|PMID:31750392|PMID:34623043|PMID:5048218 12104806 ELOVL4 ELOVL fatty acid elongase 4 gene DOID:2566 corneal dystrophy ISO RGD:1313772 D RGD:9068941 20200609 RGD PMID:11726641|REF_RGD_ID:1598895 12104806 ELOVL4 ELOVL fatty acid elongase 4 gene DOID:630 genetic disease ISO RGD:1313772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12104806 ELOVL4 ELOVL fatty acid elongase 4 gene DOID:8501 fundus dystrophy ISO RGD:1313772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11138005|PMID:15028284|PMID:23509295|PMID:24833735|PMID:28492532 12104806 ELOVL4 ELOVL fatty acid elongase 4 gene DOID:9000290 Stargardt Disease 3 ISO RGD:1313772 D RGD:7240710 20180130 OMIM 12104806 ELOVL4 ELOVL fatty acid elongase 4 gene DOID:9000290 Stargardt Disease 3 ISO RGD:1313772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stargardt disease 3 PMID:11138005|PMID:15028284|PMID:15557430|PMID:22948568|PMID:23509295|PMID:24833735|PMID:25326635|PMID:25741868|PMID:27116512|PMID:28492532|PMID:33546218|PMID:34073554 12104806 ELOVL4 ELOVL fatty acid elongase 4 gene DOID:9000515 Ichthyosis, Spastic Quadriplegia, and Mental Retardation ISO RGD:1313772 D RGD:7240710 20180130 OMIM 12104806 ELOVL4 ELOVL fatty acid elongase 4 gene DOID:9000515 Ichthyosis, Spastic Quadriplegia, and Mental Retardation ISO RGD:1313772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ichthyosis, spastic quadriplegia, and mental retardation PMID:11138005|PMID:22100072|PMID:23509295|PMID:24833735|PMID:25326635|PMID:25741868|PMID:28492532 12104806 ELOVL4 ELOVL fatty acid elongase 4 gene DOID:9000565 Stargardt Disease 4 ISO RGD:1313772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt Disease, Dominant 12104806 ELOVL4 ELOVL fatty acid elongase 4 gene DOID:9269 maple syrup urine disease ISO RGD:1313772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:16786533|PMID:22593002|PMID:24571530|PMID:28492532 12104815 CPA5 carboxypeptidase A5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12104815 CPA5 carboxypeptidase A5 gene DOID:630 genetic disease ISO RGD:1345322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104840 API5 apoptosis inhibitor 5 gene DOID:1059 intellectual disability ISO RGD:1320288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12104840 API5 apoptosis inhibitor 5 gene DOID:4362 cervical cancer disease_progression ISO RGD:1320288 D RGD:9068941 20200609 RGD mRNA:increased expression PMID:10780674|REF_RGD_ID:1643340 12104840 API5 apoptosis inhibitor 5 gene DOID:630 genetic disease ISO RGD:1320288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104861 OR5AK7 olfactory receptor family 5 subfamily AK member 7 gene DOID:1059 intellectual disability ISO RGD:1348283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12104861 OR5AK7 olfactory receptor family 5 subfamily AK member 7 gene DOID:630 genetic disease ISO RGD:1348283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104864 LRP4 LDL receptor related protein 4 gene DOID:0060251 sclerosteosis ISO RGD:731744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12104864 LRP4 LDL receptor related protein 4 gene DOID:0060757 sclerosteosis 2 ISO RGD:731744 D RGD:7240710 20180130 OMIM 12104864 LRP4 LDL receptor related protein 4 gene DOID:0060757 sclerosteosis 2 ISO RGD:731744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sclerosteosis 2 PMID:11385236|PMID:21471202|PMID:24234652|PMID:25741868|PMID:28492532|PMID:7891385 12104864 LRP4 LDL receptor related protein 4 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:731744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12104864 LRP4 LDL receptor related protein 4 gene DOID:0090015 Cenani-Lenz syndactyly syndrome ISO RGD:731744 D RGD:7240710 20180130 OMIM 12104864 LRP4 LDL receptor related protein 4 gene DOID:0090015 Cenani-Lenz syndactyly syndrome ISO RGD:731744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome | ClinVar Annotator: match by term: Syndactyly type 7 PMID:10756427|PMID:11260233|PMID:12868467|PMID:14577675|PMID:16199547|PMID:17576681|PMID:18978656|PMID:20381006|PMID:21471202|PMID:23636941|PMID:24234652|PMID:24924585|PMID:25119311|PMID:25741868|PMID:26751728|PMID:28492532|PMID:28559208|PMID:7891385|PMID:9182770|PMID:9536098 12104864 LRP4 LDL receptor related protein 4 gene DOID:0110674 congenital myasthenic syndrome 17 ISO RGD:731744 D RGD:7240710 20180130 OMIM 12104864 LRP4 LDL receptor related protein 4 gene DOID:0110674 congenital myasthenic syndrome 17 ISO RGD:731744 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 17 PMID:24234652|PMID:25741868|PMID:28492532 12104864 LRP4 LDL receptor related protein 4 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:731744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 12104864 LRP4 LDL receptor related protein 4 gene DOID:1059 intellectual disability ISO RGD:731744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12104864 LRP4 LDL receptor related protein 4 gene DOID:11193 syndactyly ISO RGD:731744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16207730 12104864 LRP4 LDL receptor related protein 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731744 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12104864 LRP4 LDL receptor related protein 4 gene DOID:3635 congenital myasthenic syndrome ISO RGD:731744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12104864 LRP4 LDL receptor related protein 4 gene DOID:630 genetic disease ISO RGD:731744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12104864 LRP4 LDL receptor related protein 4 gene DOID:9009007 Tooth Abnormalities ISO RGD:731744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16207730 12104906 INHBB inhibin subunit beta B gene DOID:0050328 congenital hypothyroidism ISO RGD:2913 D RGD:9068941 20200609 RGD mRNA:decreased expression:testes (rat) PMID:7819453|REF_RGD_ID:9743921 12104906 INHBB inhibin subunit beta B gene DOID:0111545 familial male-limited precocious puberty ISO RGD:735395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16684832 12104906 INHBB inhibin subunit beta B gene DOID:630 genetic disease ISO RGD:735395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104906 INHBB inhibin subunit beta B gene DOID:9000774 Brain Death ISO RGD:2913 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:15808645|REF_RGD_ID:9743920 12104906 INHBB inhibin subunit beta B gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2913 D RGD:9068941 20230427 RGD protein:increased expression:serum (rat) PMID:27732750|REF_RGD_ID:329322881 12104910 CIC capicua transcriptional repressor gene DOID:0060041 autism spectrum disorder ISO RGD:1321769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12104910 CIC capicua transcriptional repressor gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1321769 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability 12104910 CIC capicua transcriptional repressor gene DOID:0080236 autosomal dominant intellectual developmental disorder 45 ISO RGD:1321769 D RGD:7240710 20190315 OMIM 12104910 CIC capicua transcriptional repressor gene DOID:0080236 autosomal dominant intellectual developmental disorder 45 ISO RGD:1321769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 45 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 PMID:21076407|PMID:24307393|PMID:24728327|PMID:25741868|PMID:28288114|PMID:28492532|PMID:32820034|PMID:34906502|PMID:35165976 12104910 CIC capicua transcriptional repressor gene DOID:0081126 DeSanto-Shinawi syndrome ISO RGD:1321769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation PMID:25741868 12104910 CIC capicua transcriptional repressor gene DOID:1059 intellectual disability ISO RGD:1321769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 12104910 CIC capicua transcriptional repressor gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1321769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28288114 12104910 CIC capicua transcriptional repressor gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1321769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12104910 CIC capicua transcriptional repressor gene DOID:1342 congenital hypoplastic anemia ISO RGD:1321769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12104910 CIC capicua transcriptional repressor gene DOID:150 disease of mental health ISO RGD:1321770 D RGD:9068941 20220825 MouseDO 12104910 CIC capicua transcriptional repressor gene DOID:1826 epilepsy ISO RGD:1321769 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12104910 CIC capicua transcriptional repressor gene DOID:2340 craniosynostosis ISO RGD:1321769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:28492532 12104910 CIC capicua transcriptional repressor gene DOID:3181 oligodendroglioma ISO RGD:1321769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligodendroglioma 12104910 CIC capicua transcriptional repressor gene DOID:5419 schizophrenia ISO RGD:1321769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12104910 CIC capicua transcriptional repressor gene DOID:630 genetic disease ISO RGD:1321769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24728327|PMID:25741868|PMID:28492532|PMID:34906502 12104910 CIC capicua transcriptional repressor gene DOID:7154 anaplastic oligodendroglioma ISO RGD:1321769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anaplastic oligodendroglioma 12104910 CIC capicua transcriptional repressor gene DOID:9000965 Neoplasm Metastasis ISO RGD:1321769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869830 12104910 CIC capicua transcriptional repressor gene DOID:9001153 FG Syndrome 4 ISO RGD:1321769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FG syndrome 4 PMID:25741868 12104910 CIC capicua transcriptional repressor gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1321769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18337722 12104910 CIC capicua transcriptional repressor gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1321769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12104910 CIC capicua transcriptional repressor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12104910 CIC capicua transcriptional repressor gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1321769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:28288114 12104910 CIC capicua transcriptional repressor gene DOID:9006994 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN ISO RGD:1321769 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin PMID:25741868 12104910 CIC capicua transcriptional repressor gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:1321769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 12104910 CIC capicua transcriptional repressor gene DOID:9269 maple syrup urine disease ISO RGD:1321769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12104938 PRR36 proline rich 36 gene DOID:630 genetic disease ISO RGD:9588105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104949 PSD2 pleckstrin and Sec7 domain containing 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1322340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12104949 PSD2 pleckstrin and Sec7 domain containing 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1322340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12104949 PSD2 pleckstrin and Sec7 domain containing 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1322340 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12104949 PSD2 pleckstrin and Sec7 domain containing 2 gene DOID:630 genetic disease ISO RGD:1322340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104949 PSD2 pleckstrin and Sec7 domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12104949 PSD2 pleckstrin and Sec7 domain containing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322340 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12104989 THAP11 THAP domain containing 11 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1321070 D RGD:9068941 20220825 MouseDO OMIM:277400 12104989 THAP11 THAP domain containing 11 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1321069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12104989 THAP11 THAP domain containing 11 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1321069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:25741868|PMID:28449119 12104989 THAP11 THAP domain containing 11 gene DOID:630 genetic disease ISO RGD:1321069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12104989 THAP11 THAP domain containing 11 gene DOID:655 inherited metabolic disorder ISO RGD:1321069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:25741868|PMID:28449119 12104994 PTPN14 protein tyrosine phosphatase non-receptor type 14 gene DOID:1540 parathyroid carcinoma ISO RGD:1317339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12104994 PTPN14 protein tyrosine phosphatase non-receptor type 14 gene DOID:2513 basal cell carcinoma ISO RGD:1317339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 12104994 PTPN14 protein tyrosine phosphatase non-receptor type 14 gene DOID:630 genetic disease ISO RGD:1317339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12104994 PTPN14 protein tyrosine phosphatase non-receptor type 14 gene DOID:769 neuroblastoma ISO RGD:1317339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 12104994 PTPN14 protein tyrosine phosphatase non-receptor type 14 gene DOID:9002801 Recurrence ISO RGD:1317339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 12104994 PTPN14 protein tyrosine phosphatase non-receptor type 14 gene DOID:9007154 Choanal Atresia and Lymphedema ISO RGD:1317339 D RGD:7240710 20180130 OMIM 12104994 PTPN14 protein tyrosine phosphatase non-receptor type 14 gene DOID:9007154 Choanal Atresia and Lymphedema ISO RGD:1317339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Choanal atresia and lymphedema PMID:20826270|PMID:25741868 12104994 PTPN14 protein tyrosine phosphatase non-receptor type 14 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1317339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 12104994 PTPN14 protein tyrosine phosphatase non-receptor type 14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12105020 SOAT1 sterol O-acyltransferase 1 gene DOID:10230 aortic atherosclerosis ameliorates ISO RGD:1552527 D RGD:9068941 20210514 RGD associated with Hypercholesterolemia PMID:30282838|REF_RGD_ID:126925208 12105020 SOAT1 sterol O-acyltransferase 1 gene DOID:1168 familial hyperlipidemia ISO RGD:731039 D RGD:9068941 20210514 RGD DNA:Missense mutations, haplotype:CDS:multiple (mouse) PMID:22022387|REF_RGD_ID:126925202 12105020 SOAT1 sterol O-acyltransferase 1 gene DOID:12140 Chagas disease ameliorates ISO RGD:731038 D RGD:9068941 20210514 RGD DNA:SNP:exon: rs1044925 (human) PMID:31236660|REF_RGD_ID:126925205 12105020 SOAT1 sterol O-acyltransferase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:731038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12105020 SOAT1 sterol O-acyltransferase 1 gene DOID:1936 atherosclerosis ameliorates ISO RGD:731039 D RGD:9068941 20210514 RGD myeloid knockout PMID:31495784|REF_RGD_ID:126925203 12105020 SOAT1 sterol O-acyltransferase 1 gene DOID:3345 xanthomatosis ISO RGD:731039 D RGD:9068941 20210514 RGD associated with atherosclerosis PMID:30354239|REF_RGD_ID:126925206 12105020 SOAT1 sterol O-acyltransferase 1 gene DOID:630 genetic disease ISO RGD:731038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105020 SOAT1 sterol O-acyltransferase 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:731038 D RGD:9068941 20210514 RGD associated with hepatitis B;protein:increased expression:liver (human) PMID:30814741|REF_RGD_ID:126925204 12105020 SOAT1 sterol O-acyltransferase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12105020 SOAT1 sterol O-acyltransferase 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:731038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12105020 SOAT1 sterol O-acyltransferase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12105020 SOAT1 sterol O-acyltransferase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731039 D RGD:9068941 20210514 RGD mRNA:increased expression:peritoneal macrophage (mouse) PMID:26606676|REF_RGD_ID:126925207 12105048 DNAJC18 DnaJ heat shock protein family (Hsp40) member C18 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1602641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12105048 DNAJC18 DnaJ heat shock protein family (Hsp40) member C18 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602641 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12105048 DNAJC18 DnaJ heat shock protein family (Hsp40) member C18 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1602641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12105048 DNAJC18 DnaJ heat shock protein family (Hsp40) member C18 gene DOID:630 genetic disease ISO RGD:1602641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105048 DNAJC18 DnaJ heat shock protein family (Hsp40) member C18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12105048 DNAJC18 DnaJ heat shock protein family (Hsp40) member C18 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602641 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12105067 HEXIM2 HEXIM P-TEFb complex subunit 2 gene DOID:630 genetic disease ISO RGD:1601726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105074 ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350452 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12105074 ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350452 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12105074 ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1350452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12105074 ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1350452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 12105074 ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350452 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12105074 ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1350452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:15879500|PMID:20414677|PMID:28492532 12105074 ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:630 genetic disease ISO RGD:1350452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105090 HAPLN3 hyaluronan and proteoglycan link protein 3 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1317673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12105090 HAPLN3 hyaluronan and proteoglycan link protein 3 gene DOID:2717 Bloom syndrome ISO RGD:1317673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12105090 HAPLN3 hyaluronan and proteoglycan link protein 3 gene DOID:630 genetic disease ISO RGD:1317673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105090 HAPLN3 hyaluronan and proteoglycan link protein 3 gene DOID:9256 colorectal cancer ISO RGD:1317673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12105115 ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 gene DOID:4450 renal cell carcinoma ISO RGD:1348719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:28492532 12105115 ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12105115 ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 gene DOID:630 genetic disease ISO RGD:1348719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105115 ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12105115 ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1348719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:28492532 12105135 IFT70B intraflagellar transport 70B gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1603563 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12105135 IFT70B intraflagellar transport 70B gene DOID:630 genetic disease ISO RGD:1603563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105140 OR10T2 olfactory receptor family 10 subfamily T member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1350212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12105140 OR10T2 olfactory receptor family 10 subfamily T member 2 gene DOID:630 genetic disease ISO RGD:1350212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105140 OR10T2 olfactory receptor family 10 subfamily T member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12105143 SYCN syncollin gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1604473 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12105143 SYCN syncollin gene DOID:630 genetic disease ISO RGD:1604473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105143 SYCN syncollin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604473 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12105149 C20H19orf44 chromosome 20 C19orf44 homolog gene DOID:630 genetic disease ISO RGD:1602089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105183 NBDY negative regulator of P-body association gene DOID:12849 autistic disorder ISO RGD:8662134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12105188 LOC100687459 GTPase IMAP family member 5 gene DOID:10762 portal hypertension ISO RGD:1349853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Portal hypertension PMID:29382851|PMID:33956074 12105188 LOC100687459 GTPase IMAP family member 5 gene DOID:2843 long QT syndrome ISO RGD:1349853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 12105188 LOC100687459 GTPase IMAP family member 5 gene DOID:614 lymphopenia ISO RGD:628871 D RGD:9068941 20200609 RGD DNA:frameshift deletion PMID:12097339|REF_RGD_ID:619544 12105188 LOC100687459 GTPase IMAP family member 5 gene DOID:630 genetic disease ISO RGD:1349853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105188 LOC100687459 GTPase IMAP family member 5 gene DOID:9004499 Noncirrhotic Portal Hypertension 2 ISO RGD:1349853 D RGD:7240710 20210818 OMIM 12105188 LOC100687459 GTPase IMAP family member 5 gene DOID:9004499 Noncirrhotic Portal Hypertension 2 ISO RGD:1349853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Portal hypertension, noncirrhotic, 2 PMID:29382851|PMID:33956074 12105188 LOC100687459 GTPase IMAP family member 5 gene DOID:9744 type 1 diabetes mellitus ISO RGD:628871 D RGD:9068941 20200609 RGD PMID:12031988|REF_RGD_ID:633092 12105188 LOC100687459 GTPase IMAP family member 5 gene DOID:9744 type 1 diabetes mellitus ISO RGD:628871 D RGD:9068941 20200609 RGD DNA:frameshift deletion PMID:12097339|REF_RGD_ID:619544 12105203 MIR375 microRNA mir-375 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1345165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12105203 MIR375 microRNA mir-375 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1345165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12105203 MIR375 microRNA mir-375 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1345165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12105203 MIR375 microRNA mir-375 gene DOID:10534 stomach cancer ISO RGD:1345165 D RGD:9068941 20210528 RGD associated with Helicobacter Infections; protein:decreased expression:stomach (human) PMID:24718681|REF_RGD_ID:126928128 12105203 MIR375 microRNA mir-375 gene DOID:10652 Alzheimer's disease ISO RGD:1345165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25992776 12105203 MIR375 microRNA mir-375 gene DOID:4033 bacterial gastritis ISO RGD:1345165 D RGD:9068941 20210528 RGD protein:decreased expression:stomach (human) PMID:24718681|REF_RGD_ID:126928128 12105203 MIR375 microRNA mir-375 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1345165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12105203 MIR375 microRNA mir-375 gene DOID:4989 pancreatitis ISO RGD:1345165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12105203 MIR375 microRNA mir-375 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12105203 MIR375 microRNA mir-375 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1345165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12105203 MIR375 microRNA mir-375 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12105276 OBSL1 obscurin like cytoskeletal adaptor 1 gene DOID:0060241 3-M syndrome ISO RGD:1603688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3-M syndrome 12105276 OBSL1 obscurin like cytoskeletal adaptor 1 gene DOID:0060604 ankyloglossia ISO RGD:1603688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ankyloglossia PMID:25741868|PMID:28492532|PMID:30755392 12105276 OBSL1 obscurin like cytoskeletal adaptor 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1603688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12105276 OBSL1 obscurin like cytoskeletal adaptor 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1603688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12105276 OBSL1 obscurin like cytoskeletal adaptor 1 gene DOID:1148 polydactyly ISO RGD:1603688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 12105276 OBSL1 obscurin like cytoskeletal adaptor 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1603688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12105276 OBSL1 obscurin like cytoskeletal adaptor 1 gene DOID:630 genetic disease ISO RGD:1603688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12105276 OBSL1 obscurin like cytoskeletal adaptor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12105276 OBSL1 obscurin like cytoskeletal adaptor 1 gene DOID:9005349 Three M Syndrome 1 ISO RGD:1603688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3M syndrome 1 PMID:30980518 12105276 OBSL1 obscurin like cytoskeletal adaptor 1 gene DOID:9006598 Three M Syndrome 2 ISO RGD:1603688 D RGD:7240710 20180130 OMIM 12105276 OBSL1 obscurin like cytoskeletal adaptor 1 gene DOID:9006598 Three M Syndrome 2 ISO RGD:1603688 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3M syndrome 2 PMID:16531729|PMID:17681982|PMID:19481195|PMID:19877176|PMID:20164589|PMID:25741868|PMID:25923536|PMID:26627873|PMID:27796265|PMID:27959697|PMID:28492532|PMID:28969986|PMID:30980518|PMID:33135300 12105276 OBSL1 obscurin like cytoskeletal adaptor 1 gene DOID:9007661 Dwarfism ISO RGD:1603688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:19481195|PMID:25741868 12105362 GLCE glucuronic acid epimerase gene DOID:2717 Bloom syndrome ISO RGD:1607059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12105362 GLCE glucuronic acid epimerase gene DOID:630 genetic disease ISO RGD:1607059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105362 GLCE glucuronic acid epimerase gene DOID:9256 colorectal cancer ISO RGD:1607059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12105373 GLB1L3 galactosidase beta 1 like 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1603928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12105373 GLB1L3 galactosidase beta 1 like 3 gene DOID:5419 schizophrenia ISO RGD:1603928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12105373 GLB1L3 galactosidase beta 1 like 3 gene DOID:630 genetic disease ISO RGD:1603928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105373 GLB1L3 galactosidase beta 1 like 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12105395 TTC22 tetratricopeptide repeat domain 22 gene DOID:630 genetic disease ISO RGD:1605998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105406 MIR449A microRNA mir-449a gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12105415 ICA1 islet cell autoantigen 1 gene DOID:630 genetic disease ISO RGD:733652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105415 ICA1 islet cell autoantigen 1 gene DOID:9351 diabetes mellitus ISO RGD:621465 D RGD:9068941 20200609 RGD PMID:7918678|REF_RGD_ID:633043 12105415 ICA1 islet cell autoantigen 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733653 D RGD:9068941 20200609 RGD PMID:11751995|REF_RGD_ID:2311487 12105415 ICA1 islet cell autoantigen 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733653 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:thymus gland PMID:14679103|REF_RGD_ID:2311486 12105415 ICA1 islet cell autoantigen 1 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:733652 D RGD:9068941 20200609 RGD PMID:8647206|REF_RGD_ID:2311488 12105466 OR2A9B olfactory receptor family 2 subfamily A member 9B gene DOID:630 genetic disease ISO RGD:1343723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105469 ATP5F1C ATP synthase F1 subunit gamma gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:732616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12105469 ATP5F1C ATP synthase F1 subunit gamma gene DOID:0080600 COVID-19 ISO RGD:732616 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12105469 ATP5F1C ATP synthase F1 subunit gamma gene DOID:5419 schizophrenia ISO RGD:620011 D RGD:9068941 20210806 RGD mRNA:increased expression:prefrontal cortex (rat) PMID:30142370|REF_RGD_ID:13792655 12105469 ATP5F1C ATP synthase F1 subunit gamma gene DOID:9970 obesity ISO RGD:732616 D RGD:9068941 20200609 RGD PMID:19549744|REF_RGD_ID:14696798 12105487 ZC3H15 zinc finger CCCH-type containing 15 gene DOID:630 genetic disease ISO RGD:1601751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105487 ZC3H15 zinc finger CCCH-type containing 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12105500 PAIP1 poly(A) binding protein interacting protein 1 gene DOID:630 genetic disease ISO RGD:1313834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105500 PAIP1 poly(A) binding protein interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12105527 MROH2B maestro heat like repeat family member 2B gene DOID:630 genetic disease ISO RGD:1604530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105527 MROH2B maestro heat like repeat family member 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12105591 PIGK phosphatidylinositol glycan anchor biosynthesis class K gene DOID:630 genetic disease ISO RGD:1315550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105591 PIGK phosphatidylinositol glycan anchor biosynthesis class K gene DOID:9001146 Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures ISO RGD:1315550 D RGD:7240710 20200715 OMIM 12105591 PIGK phosphatidylinositol glycan anchor biosynthesis class K gene DOID:9001146 Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures ISO RGD:1315550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures PMID:25741868|PMID:32220290|PMID:33392778 12105606 KLHL20 kelch like family member 20 gene DOID:10283 prostate cancer ISO RGD:1343100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12105606 KLHL20 kelch like family member 20 gene DOID:1059 intellectual disability ISO RGD:1343100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12105606 KLHL20 kelch like family member 20 gene DOID:1540 parathyroid carcinoma ISO RGD:1343100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12105606 KLHL20 kelch like family member 20 gene DOID:3755 antithrombin III deficiency ISO RGD:1343100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 12105606 KLHL20 kelch like family member 20 gene DOID:630 genetic disease ISO RGD:1343100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105606 KLHL20 kelch like family member 20 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1343100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 12105606 KLHL20 kelch like family member 20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12105606 KLHL20 kelch like family member 20 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1343100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 12105606 KLHL20 kelch like family member 20 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12105622 UTP6 UTP6 small subunit processome component gene DOID:1969 cerebral palsy ISO RGD:1603639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12105622 UTP6 UTP6 small subunit processome component gene DOID:630 genetic disease ISO RGD:1603639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105645 NOTCH1 notch receptor 1 gene DOID:0050145 adenoiditis ISO RGD:737367 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Chronic adenoiditis PMID:25741868|PMID:28492532 12105645 NOTCH1 notch receptor 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:737367 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:16707600|REF_RGD_ID:1580759 12105645 NOTCH1 notch receptor 1 gene DOID:0050777 Joubert syndrome ISO RGD:737367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12105645 NOTCH1 notch receptor 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:10998 D RGD:9068941 20220204 RGD protein:increased expression:tongue (mouse) PMID:30624777|REF_RGD_ID:151347668 12105645 NOTCH1 notch receptor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737367 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12105645 NOTCH1 notch receptor 1 gene DOID:0060058 lymphoma ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18798262 12105645 NOTCH1 notch receptor 1 gene DOID:0060227 Adams-Oliver syndrome ISO RGD:737367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome PMID:24728327|PMID:25741868|PMID:28492532 12105645 NOTCH1 notch receptor 1 gene DOID:0060249 scoliosis ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17849441 12105645 NOTCH1 notch receptor 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:737367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12105645 NOTCH1 notch receptor 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:737367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12105645 NOTCH1 notch receptor 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:737367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12105645 NOTCH1 notch receptor 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:737367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12105645 NOTCH1 notch receptor 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 12105645 NOTCH1 notch receptor 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:737367 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12105645 NOTCH1 notch receptor 1 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve PMID:24728327|PMID:25741868|PMID:28492532 12105645 NOTCH1 notch receptor 1 gene DOID:0080333 aortic valve disease 1 ISO RGD:737367 D RGD:7240710 20180130 OMIM 12105645 NOTCH1 notch receptor 1 gene DOID:0080333 aortic valve disease 1 ISO RGD:737367 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aortic valve disease 1 PMID:16025100|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:20007775|PMID:20981092|PMID:21457232|PMID:23578328|PMID:23798201|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:25132448|PMID:25260786|PMID:25326637|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:25963545|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:27760138|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31633846|PMID:31654484|PMID:31866570|PMID:32277046|PMID:32748548|PMID:33110418|PMID:33914609|PMID:33994118|PMID:35101336|PMID:35288444|PMID:9536098 12105645 NOTCH1 notch receptor 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:737367 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12105645 NOTCH1 notch receptor 1 gene DOID:0081097 Rafiq syndrome ISO RGD:737367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12105645 NOTCH1 notch receptor 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:737367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:25741868|PMID:26893459|PMID:28492532 12105645 NOTCH1 notch receptor 1 gene DOID:10485 esophageal atresia ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12105645 NOTCH1 notch receptor 1 gene DOID:10629 microphthalmia ISO RGD:737367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia PMID:25741868|PMID:26893459|PMID:28492532 12105645 NOTCH1 notch receptor 1 gene DOID:10964 cholesteatoma of middle ear ISO RGD:737367 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cholesteatoma of middle ear PMID:25741868|PMID:27993330|PMID:28492532 12105645 NOTCH1 notch receptor 1 gene DOID:13025 retinopathy of prematurity treatment ISO RGD:3187 D RGD:9068941 20221117 RGD PMID:30652694|REF_RGD_ID:155663485 12105645 NOTCH1 notch receptor 1 gene DOID:1380 endometrial cancer ISO RGD:737367 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:11078798|REF_RGD_ID:2299153 12105645 NOTCH1 notch receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16729972|PMID:17662764|PMID:18593716|PMID:21457232|PMID:24033266|PMID:24728327|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26708639|PMID:26820064|PMID:27854218|PMID:27989580|PMID:28166811|PMID:28387797|PMID:28492532|PMID:30059548|PMID:30609409|PMID:32748548 12105645 NOTCH1 notch receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737367 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16729972|PMID:17662764|PMID:18593716|PMID:21457232|PMID:24033266|PMID:24728327|PMID:25587027|PMID:25741868|PMID:25931334|PMID:26188975|PMID:26708639|PMID:26820064|PMID:27854218|PMID:27989580|PMID:28387797|PMID:28492532|PMID:30609409|PMID:32748548 12105645 NOTCH1 notch receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737367 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16729972|PMID:17662764|PMID:18593716|PMID:21457232|PMID:24033266|PMID:24728327|PMID:25587027|PMID:25741868|PMID:25931334|PMID:26188975|PMID:26708639|PMID:26820064|PMID:27989580|PMID:28387797|PMID:28492532|PMID:30609409|PMID:32748548 12105645 NOTCH1 notch receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737367 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:20007775|PMID:20981092|PMID:21457232|PMID:21642962|PMID:22077063|PMID:22225590|PMID:23040356|PMID:23578328|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26893459|PMID:27854218|PMID:27989580|PMID:28074886|PMID:28166811|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098 12105645 NOTCH1 notch receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:20007775|PMID:20981092|PMID:21457232|PMID:21642962|PMID:22077063|PMID:22225590|PMID:23040356|PMID:23578328|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26893459|PMID:27760138|PMID:27854218|PMID:27989580|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098 12105645 NOTCH1 notch receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737367 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:20007775|PMID:20981092|PMID:21457232|PMID:21642962|PMID:22077063|PMID:22225590|PMID:23040356|PMID:23578328|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26893459|PMID:27760138|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29706348|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098 12105645 NOTCH1 notch receptor 1 gene DOID:14323 Marfan syndrome ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 12105645 NOTCH1 notch receptor 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:737367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12105645 NOTCH1 notch receptor 1 gene DOID:14757 Ehlers-Danlos syndrome hypermobility type ISO RGD:737367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 PMID:28492532 12105645 NOTCH1 notch receptor 1 gene DOID:1682 congenital heart disease ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:17662764|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28387797|PMID:28492532|PMID:30609409 12105645 NOTCH1 notch receptor 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 12105645 NOTCH1 notch receptor 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:10998 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:17297654|REF_RGD_ID:2325328 12105645 NOTCH1 notch receptor 1 gene DOID:182 calcinosis ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22110751 12105645 NOTCH1 notch receptor 1 gene DOID:1826 epilepsy ISO RGD:737367 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12105645 NOTCH1 notch receptor 1 gene DOID:1936 atherosclerosis treatment ISO RGD:10998 D RGD:9068941 20221117 RGD PMID:30909142|REF_RGD_ID:155663380 12105645 NOTCH1 notch receptor 1 gene DOID:2226 myeloproliferative neoplasm ISO RGD:737367 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable PMID:24728327|PMID:25741868|PMID:28492532|PMID:35101336 12105645 NOTCH1 notch receptor 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:3187 D RGD:9068941 20221117 RGD PMID:30258350|REF_RGD_ID:155663419 12105645 NOTCH1 notch receptor 1 gene DOID:255 hemangioma ISO RGD:737367 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hemangioma PMID:25741868 12105645 NOTCH1 notch receptor 1 gene DOID:264 hemangiopericytoma ISO RGD:737367 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:anterior temporal lobe PMID:26951238|REF_RGD_ID:155663351 12105645 NOTCH1 notch receptor 1 gene DOID:3068 glioblastoma ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 12105645 NOTCH1 notch receptor 1 gene DOID:3069 malignant astrocytoma ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 12105645 NOTCH1 notch receptor 1 gene DOID:3149 keratoacanthoma ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoacanthoma PMID:27283355 12105645 NOTCH1 notch receptor 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:10998 D RGD:9068941 20200609 RGD protein:increased expression:spinal chord PMID:26067594|REF_RGD_ID:13524575 12105645 NOTCH1 notch receptor 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:10998 D RGD:9068941 20200609 RGD PMID:19028876|PMID:20484026|REF_RGD_ID:2325323|REF_RGD_ID:2325324 12105645 NOTCH1 notch receptor 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 12105645 NOTCH1 notch receptor 1 gene DOID:3652 Leigh disease ISO RGD:737367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12105645 NOTCH1 notch receptor 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 12105645 NOTCH1 notch receptor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:3187 D RGD:9068941 20221201 RGD protein:increased expression:lung PMID:27982686|REF_RGD_ID:155663660 12105645 NOTCH1 notch receptor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:20007775|PMID:25741868|PMID:28492532 12105645 NOTCH1 notch receptor 1 gene DOID:3910 lung adenocarcinoma treatment ISO RGD:3187 D RGD:9068941 20221117 RGD PMID:33628824|REF_RGD_ID:155663482 12105645 NOTCH1 notch receptor 1 gene DOID:4079 heart valve disease ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22110751 12105645 NOTCH1 notch receptor 1 gene DOID:4556 lung large cell carcinoma treatment ISO RGD:3187 D RGD:9068941 20221117 RGD PMID:33628824|REF_RGD_ID:155663482 12105645 NOTCH1 notch receptor 1 gene DOID:4947 cholangiocarcinoma ISO RGD:737367 D RGD:9068941 20200609 RGD protein:increased expression:cholangiocyte PMID:15887117|REF_RGD_ID:2325330 12105645 NOTCH1 notch receptor 1 gene DOID:5409 lung small cell carcinoma treatment ISO RGD:3187 D RGD:9068941 20221117 RGD PMID:33628824|REF_RGD_ID:155663482 12105645 NOTCH1 notch receptor 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia 12105645 NOTCH1 notch receptor 1 gene DOID:62 aortic valve disease ISO RGD:737367 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AORTIC VALVE DISEASE PMID:18593716|PMID:20981092|PMID:25260786|PMID:25741868|PMID:28492532|PMID:29641532|PMID:30582441|PMID:31624253 12105645 NOTCH1 notch receptor 1 gene DOID:630 genetic disease ISO RGD:737367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18660822|PMID:22326375|PMID:24728327|PMID:25741868|PMID:27283355|PMID:28492532|PMID:9336830 12105645 NOTCH1 notch receptor 1 gene DOID:6419 tetralogy of Fallot ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:19597493|PMID:27760138 12105645 NOTCH1 notch receptor 1 gene DOID:6432 pulmonary hypertension ameliorates ISO RGD:10998 D RGD:9068941 20221110 RGD PMID:34739767|REF_RGD_ID:155646132 12105645 NOTCH1 notch receptor 1 gene DOID:649 prion disease ISO RGD:10998 D RGD:9068941 20200609 RGD PMID:15640354|REF_RGD_ID:13782159 12105645 NOTCH1 notch receptor 1 gene DOID:65 connective tissue disease ISO RGD:737367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:16729972|PMID:17662764|PMID:18593716|PMID:20951801|PMID:21457232|PMID:24033266|PMID:24728327|PMID:25587027|PMID:25741868|PMID:26188975|PMID:26820064|PMID:28387797|PMID:28492532|PMID:30609409|PMID:32748548|PMID:33914609|PMID:33994118 12105645 NOTCH1 notch receptor 1 gene DOID:863 nervous system disease ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23203475 12105645 NOTCH1 notch receptor 1 gene DOID:8947 diabetic retinopathy treatment ISO RGD:10998 D RGD:9068941 20221110 RGD PMID:30787185|REF_RGD_ID:155663348 12105645 NOTCH1 notch receptor 1 gene DOID:9000713 Surgical Wound ameliorates ISO RGD:10998 D RGD:9068941 20221110 RGD associated with diabetes mellitus; PMID:30886104|REF_RGD_ID:155646129 12105645 NOTCH1 notch receptor 1 gene DOID:9000970 Focal Nodular Hyperplasia ISO RGD:737367 D RGD:9068941 20221110 RGD mRNA:decreased expression:liver PMID:23870033|REF_RGD_ID:155646133 12105645 NOTCH1 notch receptor 1 gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:737367 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Arterial dissection PMID:25741868|PMID:28492532 12105645 NOTCH1 notch receptor 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:3187 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:18942116|REF_RGD_ID:2325310 12105645 NOTCH1 notch receptor 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:737367 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:18593716|PMID:20981092|PMID:24728327|PMID:25741868|PMID:28387797|PMID:28492532|PMID:29641532|PMID:30059548|PMID:30582441|PMID:35288444 12105645 NOTCH1 notch receptor 1 gene DOID:9002017 Folate-Responsive Megaloblastic Anemia ISO RGD:737367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Megaloblastic anemia, folate-responsive 12105645 NOTCH1 notch receptor 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:737367 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:16025100|PMID:25132448|PMID:25741868 12105645 NOTCH1 notch receptor 1 gene DOID:9002720 Splenomegaly ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25585350 12105645 NOTCH1 notch receptor 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19147571 12105645 NOTCH1 notch receptor 1 gene DOID:9002962 Adams-Oliver Syndrome 2 ISO RGD:737367 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 2 PMID:18593716|PMID:20981092|PMID:25741868|PMID:28492532|PMID:29641532|PMID:30582441 12105645 NOTCH1 notch receptor 1 gene DOID:9003191 Vascular Malformations ISO RGD:737367 D RGD:9068941 20221111 RGD protein:increased expression:intestine: PMID:24219762|REF_RGD_ID:155663361 12105645 NOTCH1 notch receptor 1 gene DOID:9003191 Vascular Malformations ISO RGD:737367 D RGD:9068941 20221111 RGD protein:increased expression:serum: PMID:21955427|REF_RGD_ID:155663363 12105645 NOTCH1 notch receptor 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 12105645 NOTCH1 notch receptor 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:10998 D RGD:9068941 20221111 RGD PMID:23188126|REF_RGD_ID:155663352 12105645 NOTCH1 notch receptor 1 gene DOID:9004077 SHONE COMPLEX ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shone complex PMID:28492532 12105645 NOTCH1 notch receptor 1 gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 12105645 NOTCH1 notch receptor 1 gene DOID:9004397 calcification of aortic valve ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16025100 12105645 NOTCH1 notch receptor 1 gene DOID:9004464 Skin Neoplasms ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 12105645 NOTCH1 notch receptor 1 gene DOID:9005647 Experimental Autoimmune Uveitis disease_progression ISO RGD:3187 D RGD:9068941 20221222 RGD PMID:31209505|REF_RGD_ID:155791448 12105645 NOTCH1 notch receptor 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:737367 D RGD:7240710 20180130 OMIM 12105645 NOTCH1 notch receptor 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:737367 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:15959515|PMID:16025100|PMID:16199547|PMID:1621771|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19597493|PMID:19668216|PMID:20007775|PMID:20951801|PMID:20981092|PMID:21457232|PMID:22307742|PMID:22318994|PMID:23034536|PMID:23040356|PMID:23102684|PMID:23386033|PMID:23578328|PMID:23798201|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:25132448|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25516202|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:25963545|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26893459|PMID:27077170|PMID:27760138|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28125082|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29447731|PMID:29555671|PMID:29641532|PMID:29706348|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30115950|PMID:30511478|PMID:30582441|PMID:30609409|PMID:30919572|PMID:31624253|PMID:31633846|PMID:31654484|PMID:31866570|PMID:32277046|PMID:32748548|PMID:33064175|PMID:33110418|PMID:33208564|PMID:33247628|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098 12105645 NOTCH1 notch receptor 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17849441 12105645 NOTCH1 notch receptor 1 gene DOID:9006175 Peritoneal Diseases ISO RGD:3187 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:20056840|REF_RGD_ID:2325288 12105645 NOTCH1 notch receptor 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:3187 D RGD:9068941 20200609 RGD PMID:11971902|REF_RGD_ID:625426 12105645 NOTCH1 notch receptor 1 gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:3187 D RGD:9068941 20221104 RGD PMID:32089723|REF_RGD_ID:155641250 12105645 NOTCH1 notch receptor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30394310 12105645 NOTCH1 notch receptor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 12105645 NOTCH1 notch receptor 1 gene DOID:9008212 Diabetic Foot ISO RGD:737367 D RGD:9068941 20221110 RGD protein:increased expression:skin, epidermis: PMID:30886104|REF_RGD_ID:155646129 12105645 NOTCH1 notch receptor 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17849441 12105645 NOTCH1 notch receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696|PMID:21679465 12105645 NOTCH1 notch receptor 1 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:737367 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome PMID:24728327|PMID:25741868|PMID:28492532|PMID:30511478 12105683 ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 gene DOID:10283 prostate cancer ISO RGD:1321838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12105683 ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 gene DOID:5419 schizophrenia ISO RGD:1321838 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12105683 ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 gene DOID:630 genetic disease ISO RGD:1321838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:30450763 12105683 ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1321838 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12105683 ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 gene DOID:9004748 Hennekam Lymphangiectasia-Lymphedema Syndrome 3 ISO RGD:1321838 D RGD:7240710 20190315 OMIM 12105683 ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 gene DOID:9004748 Hennekam Lymphangiectasia-Lymphedema Syndrome 3 ISO RGD:1321838 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 3 PMID:25741868|PMID:28492532|PMID:28985353|PMID:30450763 12105709 OR6Q1 olfactory receptor family 6 subfamily Q member 1 gene DOID:1059 intellectual disability ISO RGD:1352757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12105709 OR6Q1 olfactory receptor family 6 subfamily Q member 1 gene DOID:630 genetic disease ISO RGD:1352757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105712 PRR12 proline rich 12 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1320487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12105712 PRR12 proline rich 12 gene DOID:1059 intellectual disability ISO RGD:1320487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12105712 PRR12 proline rich 12 gene DOID:10629 microphthalmia ISO RGD:1320487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: complex microphthalmia PMID:33314030 12105712 PRR12 proline rich 12 gene DOID:12849 autistic disorder ISO RGD:1320487 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:29556724|PMID:33824499 12105712 PRR12 proline rich 12 gene DOID:630 genetic disease ISO RGD:1320487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12105712 PRR12 proline rich 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320487 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:27479843|PMID:28135719|PMID:29556724|PMID:33824499 12105712 PRR12 proline rich 12 gene DOID:9004543 NEUROOCULAR SYNDROME ISO RGD:1320487 D RGD:7240710 20211027 OMIM 12105712 PRR12 proline rich 12 gene DOID:9004543 NEUROOCULAR SYNDROME ISO RGD:1320487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroocular syndrome PMID:25741868|PMID:29556724|PMID:33314030|PMID:33824499 12105730 ZNF536 zinc finger protein 536 gene DOID:4450 renal cell carcinoma ISO RGD:1351769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 12105730 ZNF536 zinc finger protein 536 gene DOID:630 genetic disease ISO RGD:1351769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105730 ZNF536 zinc finger protein 536 gene DOID:9002189 High Myopia ISO RGD:1351769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12105730 ZNF536 zinc finger protein 536 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351769 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12105770 FBXL12 F-box and leucine rich repeat protein 12 gene DOID:12849 autistic disorder ISO RGD:1313605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12105770 FBXL12 F-box and leucine rich repeat protein 12 gene DOID:630 genetic disease ISO RGD:1313605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105778 EIF4ENIF1 eukaryotic translation initiation factor 4E nuclear import factor 1 gene DOID:630 genetic disease ISO RGD:1320332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105823 KCNA1 potassium voltage-gated channel subfamily A member 1 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1346938 D RGD:7240710 20180130 OMIM 12105823 KCNA1 potassium voltage-gated channel subfamily A member 1 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1346938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 | ClinVar Annotator: match by term: Myokymia 1 with hypomagnesemia | ClinVar Annotator: match by term: PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY PMID:10355668|PMID:11013453|PMID:11026449|PMID:11746627|PMID:12408867|PMID:15127317|PMID:15979945|PMID:16511644|PMID:17114047|PMID:19307729|PMID:19528245|PMID:19779067|PMID:20301785|PMID:21307345|PMID:21858020|PMID:2245301|PMID:22609616|PMID:23349320|PMID:25659636|PMID:25741868|PMID:26395884|PMID:26467025|PMID:26778656|PMID:27864847|PMID:28216637|PMID:28492532|PMID:28666963|PMID:29056246|PMID:29375859|PMID:29915382|PMID:30055040|PMID:30140249|PMID:32139178|PMID:32705822|PMID:34305802|PMID:7842011|PMID:8541859|PMID:8845167|PMID:9526001|PMID:9600245 12105823 KCNA1 potassium voltage-gated channel subfamily A member 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1346938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12105823 KCNA1 potassium voltage-gated channel subfamily A member 1 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1346938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:25741868|PMID:28492532|PMID:34305802 12105823 KCNA1 potassium voltage-gated channel subfamily A member 1 gene DOID:11832 visual epilepsy ISO RGD:2949 D RGD:9068941 20200609 RGD PMID:22206926|REF_RGD_ID:10047237 12105823 KCNA1 potassium voltage-gated channel subfamily A member 1 gene DOID:1826 epilepsy ISO RGD:1552897 D RGD:9068941 20220825 MouseDO 12105823 KCNA1 potassium voltage-gated channel subfamily A member 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:1552897 D RGD:9068941 20220825 MouseDO 12105823 KCNA1 potassium voltage-gated channel subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1346938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23349320|PMID:25741868|PMID:26467025|PMID:27864847|PMID:28216637|PMID:28492532|PMID:29056246|PMID:30055040|PMID:7842011|PMID:8845167|PMID:9526001 12105823 KCNA1 potassium voltage-gated channel subfamily A member 1 gene DOID:9001275 Familial Atrial Fibrillation 7 ISO RGD:1346938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 7 PMID:28492532 12105823 KCNA1 potassium voltage-gated channel subfamily A member 1 gene DOID:9001302 Myokymia 1 ISO RGD:1346938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myokymia 1 PMID:11026449|PMID:17136396|PMID:25741868 12105823 KCNA1 potassium voltage-gated channel subfamily A member 1 gene DOID:9002672 Generalized Epilepsy and Paroxysmal Dyskinesia ISO RGD:1346938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy PMID:25741868|PMID:34305802 12105823 KCNA1 potassium voltage-gated channel subfamily A member 1 gene DOID:9003935 Myokymia ISO RGD:1346938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myokymia PMID:25741868|PMID:26467025|PMID:28492532 12105823 KCNA1 potassium voltage-gated channel subfamily A member 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1346938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12105823 KCNA1 potassium voltage-gated channel subfamily A member 1 gene DOID:963 episodic ataxia ISO RGD:1346938 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Hereditary episodic ataxia PMID:25741868|PMID:26467025|PMID:28492532 12105831 SLC18A2 solute carrier family 18 member A2 gene DOID:0080855 Parkinsonism ISO RGD:734009 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16269145 12105831 SLC18A2 solute carrier family 18 member A2 gene DOID:13548 secondary Parkinson disease ISO RGD:734009 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:34774656 12105831 SLC18A2 solute carrier family 18 member A2 gene DOID:14330 Parkinson's disease ISO RGD:11300 D RGD:9068941 20200609 RGD PMID:11463816|REF_RGD_ID:5131163 12105831 SLC18A2 solute carrier family 18 member A2 gene DOID:14330 Parkinson's disease ISO RGD:3694 D RGD:9068941 20200609 RGD PMID:16269145|REF_RGD_ID:5129143 12105831 SLC18A2 solute carrier family 18 member A2 gene DOID:14330 Parkinson's disease ISO RGD:3694 D RGD:9068941 20200609 RGD mRNA:decreased expression:substantia nigra (rat) PMID:21291984|REF_RGD_ID:5131086 12105831 SLC18A2 solute carrier family 18 member A2 gene DOID:14330 Parkinson's disease ISO RGD:734009 D RGD:9068941 20200609 RGD protein:decreased expression:putamen, caudate nucleus, striatum (human) PMID:16421508|REF_RGD_ID:5131167 12105831 SLC18A2 solute carrier family 18 member A2 gene DOID:14330 Parkinson's disease ISO RGD:734009 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:16112329|PMID:34774656 12105831 SLC18A2 solute carrier family 18 member A2 gene DOID:14330 Parkinson's disease resistance ISO RGD:734009 D RGD:9068941 20200609 RGD DNA:snps:5' utr:g.-103C>A, g.-74C>T, g.-62G>A (human) PMID:16339215|REF_RGD_ID:5131165 12105831 SLC18A2 solute carrier family 18 member A2 gene DOID:1440 Machado-Joseph disease ISO RGD:3694 D RGD:9068941 20200609 RGD protein:decreased expression:substantia nigra (rat) PMID:18385100|REF_RGD_ID:5131159 12105831 SLC18A2 solute carrier family 18 member A2 gene DOID:1596 depressive disorder ISO RGD:11300 D RGD:9068941 20200609 RGD PMID:17898223|REF_RGD_ID:5131168 12105831 SLC18A2 solute carrier family 18 member A2 gene DOID:303 substance-related disorder ISO RGD:3694 D RGD:9068941 20200609 RGD protein:increased cysteine nitrosylation:striatum, vesicle (rat) PMID:17683483|REF_RGD_ID:5131179 12105831 SLC18A2 solute carrier family 18 member A2 gene DOID:3602 toxic encephalopathy ISO RGD:3694 D RGD:9068941 20200609 RGD protein:increased expression:thalamus (rat) PMID:19798748|REF_RGD_ID:5130970 12105831 SLC18A2 solute carrier family 18 member A2 gene DOID:630 genetic disease ISO RGD:734009 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 12105831 SLC18A2 solute carrier family 18 member A2 gene DOID:863 nervous system disease ISO RGD:734009 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12890883 12105831 SLC18A2 solute carrier family 18 member A2 gene DOID:9002955 Nerve Degeneration ISO RGD:734009 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18643795 12105831 SLC18A2 solute carrier family 18 member A2 gene DOID:9009198 Parkinsonism-Dystonia, Infantile, 2 ISO RGD:734009 D RGD:7240710 20190315 OMIM 12105831 SLC18A2 solute carrier family 18 member A2 gene DOID:9009198 Parkinsonism-Dystonia, Infantile, 2 ISO RGD:734009 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormal dense granules | ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile, 2 PMID:23363473|PMID:25741868|PMID:26497564|PMID:28492532|PMID:28716265|PMID:32581362|PMID:35002152|PMID:36318270 12105831 SLC18A2 solute carrier family 18 member A2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:3694 D RGD:9068941 20200609 RGD PMID:16710474|REF_RGD_ID:2317333 12105831 SLC18A2 solute carrier family 18 member A2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:734009 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas (human) PMID:19223416|REF_RGD_ID:5131199 12105851 ST18 ST18 C2H2C-type zinc finger transcription factor gene DOID:630 genetic disease ISO RGD:736954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105907 GPR155 G protein-coupled receptor 155 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1319348 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12105907 GPR155 G protein-coupled receptor 155 gene DOID:12849 autistic disorder ISO RGD:1319348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17519220 12105907 GPR155 G protein-coupled receptor 155 gene DOID:630 genetic disease ISO RGD:1319348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105907 GPR155 G protein-coupled receptor 155 gene DOID:9005369 Hepatomegaly ISO RGD:1319348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12105930 OLFML2B olfactomedin like 2B gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1319500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12105930 OLFML2B olfactomedin like 2B gene DOID:1540 parathyroid carcinoma ISO RGD:1319500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12105930 OLFML2B olfactomedin like 2B gene DOID:630 genetic disease ISO RGD:1319500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105930 OLFML2B olfactomedin like 2B gene DOID:684 hepatocellular carcinoma ISO RGD:1319500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12105930 OLFML2B olfactomedin like 2B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12105930 OLFML2B olfactomedin like 2B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12105945 ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12105945 ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1604545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 12105945 ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:1826 epilepsy ISO RGD:1604545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12105945 ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604545 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12105945 ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1604545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12105945 ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:630 genetic disease ISO RGD:1604545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105945 ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:9007661 Dwarfism ISO RGD:1604545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12105945 ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:9008386 Hydrops Fetalis ISO RGD:1604545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 12105974 NGFR nerve growth factor receptor gene DOID:0050328 congenital hypothyroidism treatment ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:23312094|REF_RGD_ID:10414076 12105974 NGFR nerve growth factor receptor gene DOID:0050850 diabetic encephalopathy treatment ISO RGD:3177 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23528019|REF_RGD_ID:7242845 12105974 NGFR nerve growth factor receptor gene DOID:10487 Hirschsprung's disease ISO RGD:730911 D RGD:9068941 20200609 RGD protein:decreased expression:lamina propria:lack of staining is a marker for HD PMID:7807351|REF_RGD_ID:5508387 12105974 NGFR nerve growth factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:10983 D RGD:9068941 20200609 RGD protein:altered localization:brain PMID:19334058|REF_RGD_ID:5508225 12105974 NGFR nerve growth factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:730911 D RGD:9068941 20200609 RGD PMID:2557638|REF_RGD_ID:10414073 12105974 NGFR nerve growth factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:730911 D RGD:9068941 20200609 RGD DNA:SNP:CDS:rs2072446 PMID:18780967|REF_RGD_ID:5508228 12105974 NGFR nerve growth factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:730911 D RGD:9068941 20200609 RGD protein:altered expression:urine PMID:8215963|REF_RGD_ID:10413893 12105974 NGFR nerve growth factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:730911 D RGD:9068941 20200609 RGD protein:decreased expression:basal nucleus of telencephalon, neuron PMID:10683291|REF_RGD_ID:10413892 12105974 NGFR nerve growth factor receptor gene DOID:10652 Alzheimer's disease no_association ISO RGD:730911 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :multiple PMID:22236693|REF_RGD_ID:10413891 12105974 NGFR nerve growth factor receptor gene DOID:10652 Alzheimer's disease treatment ISO RGD:10983 D RGD:9068941 20200609 RGD PMID:23545424|REF_RGD_ID:10413895 12105974 NGFR nerve growth factor receptor gene DOID:10652 Alzheimer's disease treatment ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:19070649|REF_RGD_ID:10413894 12105974 NGFR nerve growth factor receptor gene DOID:10762 portal hypertension ISO RGD:3177 D RGD:9068941 20200609 RGD protein:increased expression:superior mesenteric ganglion PMID:22292477|REF_RGD_ID:10414081 12105974 NGFR nerve growth factor receptor gene DOID:10763 hypertension ISO RGD:3177 D RGD:9068941 20200609 RGD DNA,protein:missense mutation:CDS:c.28G>A, p.A10T (rat strains: SHR/Izm, SHRSP/Izm, WKHT) PMID:8762194|REF_RGD_ID:5508800 12105974 NGFR nerve growth factor receptor gene DOID:11446 sciatic neuropathy ISO RGD:10983 D RGD:9068941 20200609 RGD PMID:17576803|REF_RGD_ID:5144067 12105974 NGFR nerve growth factor receptor gene DOID:11446 sciatic neuropathy ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:23138653|REF_RGD_ID:10414078 12105974 NGFR nerve growth factor receptor gene DOID:11612 polycystic ovary syndrome ISO RGD:3177 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:ovary PMID:15795180|REF_RGD_ID:5508374 12105974 NGFR nerve growth factor receptor gene DOID:11832 visual epilepsy treatment ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:12873743|REF_RGD_ID:9743975 12105974 NGFR nerve growth factor receptor gene DOID:12217 Lewy body dementia ISO RGD:730911 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:8347330|REF_RGD_ID:10413896 12105974 NGFR nerve growth factor receptor gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:19824047|REF_RGD_ID:4891065 12105974 NGFR nerve growth factor receptor gene DOID:12858 Huntington's disease ISO RGD:730911 D RGD:9068941 20200609 RGD mRNA:increased expression:caudate nucleus PMID:18093249|REF_RGD_ID:10058981 12105974 NGFR nerve growth factor receptor gene DOID:1289 neurodegenerative disease ISO RGD:730911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12097334 12105974 NGFR nerve growth factor receptor gene DOID:1307 dementia ISO RGD:3177 D RGD:9068941 20200609 RGD associated with Autoimmune Diseases;protein:decreased expression:medial septal nucleus PMID:8232919|REF_RGD_ID:10413897 12105974 NGFR nerve growth factor receptor gene DOID:14330 Parkinson's disease ISO RGD:730911 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:8347330|REF_RGD_ID:10413896 12105974 NGFR nerve growth factor receptor gene DOID:1555 urticaria ISO RGD:730911 D RGD:9068941 20200609 RGD protein:decreased expression:skin PMID:12653731|REF_RGD_ID:5508479 12105974 NGFR nerve growth factor receptor gene DOID:1596 depressive disorder ISO RGD:730911 D RGD:9068941 20200609 RGD DNA:SNP:CDS:p.S205L, minor (L) allele appears protective PMID:15274039|REF_RGD_ID:5508376 12105974 NGFR nerve growth factor receptor gene DOID:1679 cystitis ISO RGD:3177 D RGD:9068941 20200609 RGD protein, mRNA:increased expression:lumbosacral dorsal root ganglia PMID:18189308|REF_RGD_ID:5508447 12105974 NGFR nerve growth factor receptor gene DOID:1686 glaucoma ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:20943663|REF_RGD_ID:5508695 12105974 NGFR nerve growth factor receptor gene DOID:1793 pancreatic cancer severity ISO RGD:730911 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:associated with longer overall survival PMID:16704535|REF_RGD_ID:5508229 12105974 NGFR nerve growth factor receptor gene DOID:1909 melanoma ISO RGD:730911 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:30339727 12105974 NGFR nerve growth factor receptor gene DOID:1936 atherosclerosis ISO RGD:730911 D RGD:9068941 20200609 RGD protein:increased expression:adventitia, vasa vasorum PMID:11689207|REF_RGD_ID:5508382 12105974 NGFR nerve growth factor receptor gene DOID:224 transient cerebral ischemia ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:11124986|REF_RGD_ID:9743974 12105974 NGFR nerve growth factor receptor gene DOID:2377 multiple sclerosis ISO RGD:730911 D RGD:9068941 20200609 RGD protein:increased expression:reactive astrocytes, microglia/macrophages PMID:11829348|REF_RGD_ID:5508481 12105974 NGFR nerve growth factor receptor gene DOID:2841 asthma ISO RGD:10983 D RGD:9068941 20200609 RGD PMID:12540484|PMID:16603479|REF_RGD_ID:5144070|REF_RGD_ID:5144072 12105974 NGFR nerve growth factor receptor gene DOID:3310 atopic dermatitis ISO RGD:730911 D RGD:9068941 20200609 RGD protein:increased expression:nerve fibers of the papillary dermis PMID:16586073|REF_RGD_ID:5508452 12105974 NGFR nerve growth factor receptor gene DOID:3393 coronary artery disease ISO RGD:730911 D RGD:9068941 20200609 RGD PMID:11935372|REF_RGD_ID:1580935 12105974 NGFR nerve growth factor receptor gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:22678884|REF_RGD_ID:10413900 12105974 NGFR nerve growth factor receptor gene DOID:3770 pulmonary fibrosis ISO RGD:10983 D RGD:9068941 20200609 RGD PMID:17576803|REF_RGD_ID:5144067 12105974 NGFR nerve growth factor receptor gene DOID:4483 rhinitis ISO RGD:730911 D RGD:9068941 20200609 RGD protein:increased expression:blood, eosinophil PMID:18647313|REF_RGD_ID:5144116 12105974 NGFR nerve growth factor receptor gene DOID:6000 congestive heart failure ISO RGD:3177 D RGD:9068941 20200609 RGD associated with Myocardial Infarction ;mRNA:increased expression:heart left ventricle, septum (rat) PMID:16497176|REF_RGD_ID:1642301 12105974 NGFR nerve growth factor receptor gene DOID:630 genetic disease ISO RGD:730911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12105974 NGFR nerve growth factor receptor gene DOID:90 degenerative disc disease ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:20973063|REF_RGD_ID:5144150 12105974 NGFR nerve growth factor receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:3177 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:11223160|REF_RGD_ID:5144100 12105974 NGFR nerve growth factor receptor gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:23748892|REF_RGD_ID:10414079 12105974 NGFR nerve growth factor receptor gene DOID:9000310 Lung Injury ISO RGD:10983 D RGD:9068941 20200609 RGD PMID:17673270|REF_RGD_ID:5144065 12105974 NGFR nerve growth factor receptor gene DOID:9000641 Pain ISO RGD:3177 D RGD:9068941 20200609 RGD associated with Inflammation PMID:20060234|REF_RGD_ID:5144063 12105974 NGFR nerve growth factor receptor gene DOID:9000998 Brain Injuries treatment ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:23940017|REF_RGD_ID:10414074 12105974 NGFR nerve growth factor receptor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:22302815|REF_RGD_ID:10413905 12105974 NGFR nerve growth factor receptor gene DOID:9001240 Peripheral Nerve Injuries treatment ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:22669154|REF_RGD_ID:10413899 12105974 NGFR nerve growth factor receptor gene DOID:9002211 Hyperalgesia treatment ISO RGD:3177 D RGD:9068941 20200609 RGD associated with Brachial Plexus Neuropathies PMID:23324933|REF_RGD_ID:10413898 12105974 NGFR nerve growth factor receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:730911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17409433|PMID:18056468 12105974 NGFR nerve growth factor receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3177 D RGD:9068941 20200609 RGD mRNA:increased expression:central nervous system PMID:8866783|REF_RGD_ID:5508386 12105974 NGFR nerve growth factor receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis severity ISO RGD:10983 D RGD:9068941 20200609 RGD PMID:16519950|REF_RGD_ID:5508312 12105974 NGFR nerve growth factor receptor gene DOID:9002955 Nerve Degeneration ISO RGD:730911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10436046 12105974 NGFR nerve growth factor receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3177 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:21136036|REF_RGD_ID:5144144 12105974 NGFR nerve growth factor receptor gene DOID:9006190 Chronic Pancreatitis ISO RGD:730911 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:12741461|REF_RGD_ID:5508378 12105974 NGFR nerve growth factor receptor gene DOID:9007500 Prurigo ISO RGD:730911 D RGD:9068941 20200609 RGD protein:increased expression:skin Schwann cells, skin perineurium cells PMID:10025723|REF_RGD_ID:5508384 12105974 NGFR nerve growth factor receptor gene DOID:9008091 Optic Nerve Injuries ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:20943663|REF_RGD_ID:5508695 12105974 NGFR nerve growth factor receptor gene DOID:9743 diabetic neuropathy ISO RGD:3177 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:dorsal root ganglia (GK/KyoSwe) PMID:12469361|REF_RGD_ID:5508379 12105986 STKLD1 serine/threonine kinase like domain containing 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1316505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12105986 STKLD1 serine/threonine kinase like domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12105986 STKLD1 serine/threonine kinase like domain containing 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1316505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12105986 STKLD1 serine/threonine kinase like domain containing 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12105986 STKLD1 serine/threonine kinase like domain containing 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1316505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12105986 STKLD1 serine/threonine kinase like domain containing 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1316505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12105986 STKLD1 serine/threonine kinase like domain containing 1 gene DOID:3652 Leigh disease ISO RGD:1316505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12105986 STKLD1 serine/threonine kinase like domain containing 1 gene DOID:630 genetic disease ISO RGD:1316505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106009 NLGN3 neuroligin 3 gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:733571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532 12106009 NLGN3 neuroligin 3 gene DOID:0060041 autism spectrum disorder ISO RGD:733571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12106009 NLGN3 neuroligin 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12106009 NLGN3 neuroligin 3 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:733571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 12106009 NLGN3 neuroligin 3 gene DOID:1059 intellectual disability ISO RGD:733571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868 12106009 NLGN3 neuroligin 3 gene DOID:11446 sciatic neuropathy ISO RGD:621119 D RGD:9068941 20200609 RGD mRNA:decreased expression:sciatic nerve PMID:17492651|REF_RGD_ID:9831149 12106009 NLGN3 neuroligin 3 gene DOID:12849 autistic disorder ISO RGD:733571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 1 | ClinVar Annotator: match by term: Autistic behavior PMID:12669065|PMID:15150161|PMID:15152050|PMID:21681106|PMID:25741868|PMID:30208311|PMID:31184401|PMID:35012288 12106009 NLGN3 neuroligin 3 gene DOID:12849 autistic disorder susceptibility ISO RGD:733571 D RGD:7240710 20190502 OMIM 12106009 NLGN3 neuroligin 3 gene DOID:1921 Klinefelter syndrome ISO RGD:733571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 12106009 NLGN3 neuroligin 3 gene DOID:630 genetic disease ISO RGD:733571 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16508939|PMID:23849776|PMID:25741868|PMID:28492532 12106009 NLGN3 neuroligin 3 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:733571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder 12106009 NLGN3 neuroligin 3 gene DOID:9007898 FG Syndrome 1 ISO RGD:733571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 12106029 PPIE peptidylprolyl isomerase E gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12106029 PPIE peptidylprolyl isomerase E gene DOID:630 genetic disease ISO RGD:1322860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106043 DNAJC5G DnaJ heat shock protein family (Hsp40) member C5 gamma gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1316617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12106043 DNAJC5G DnaJ heat shock protein family (Hsp40) member C5 gamma gene DOID:630 genetic disease ISO RGD:1316617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106063 PRR5 proline rich 5 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1604351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12106063 PRR5 proline rich 5 gene DOID:1059 intellectual disability ISO RGD:1604351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12106063 PRR5 proline rich 5 gene DOID:630 genetic disease ISO RGD:1604351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106093 ZNF114 zinc finger protein 114 gene DOID:630 genetic disease ISO RGD:1351865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106103 MTRES1 mitochondrial transcription rescue factor 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1346285 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 12106114 MRPL51 mitochondrial ribosomal protein L51 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1315444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12106114 MRPL51 mitochondrial ribosomal protein L51 gene DOID:0080600 COVID-19 ISO RGD:1315444 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12106114 MRPL51 mitochondrial ribosomal protein L51 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1315444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12106114 MRPL51 mitochondrial ribosomal protein L51 gene DOID:0111621 Temtamy syndrome ISO RGD:1315444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12106114 MRPL51 mitochondrial ribosomal protein L51 gene DOID:630 genetic disease ISO RGD:1315444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106114 MRPL51 mitochondrial ribosomal protein L51 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1315444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12106122 PRDM14 PR/SET domain 14 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1316344 D RGD:9068941 20220708 RGD DNA:hypermethylation PMID:27777637|REF_RGD_ID:152998954 12106122 PRDM14 PR/SET domain 14 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1316344 D RGD:9068941 20211210 RGD PMID:23690269|REF_RGD_ID:150530468 12106122 PRDM14 PR/SET domain 14 gene DOID:630 genetic disease ISO RGD:1316344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106122 PRDM14 PR/SET domain 14 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1316344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23666240 12106122 PRDM14 PR/SET domain 14 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1316344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19043588 12106137 EDARADD EDAR associated death domain gene DOID:0050591 tooth agenesis ISO RGD:1351297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tooth agenesis PMID:25741868 12106137 EDARADD EDAR associated death domain gene DOID:0111653 ectodermal dysplasia 11A ISO RGD:1351297 D RGD:7240710 20180130 OMIM 12106137 EDARADD EDAR associated death domain gene DOID:0111653 ectodermal dysplasia 11A ISO RGD:1351297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant PMID:11780064|PMID:17354266|PMID:20222921|PMID:20979233|PMID:21626677|PMID:25640679|PMID:25741868|PMID:28492532 12106137 EDARADD EDAR associated death domain gene DOID:0111654 ectodermal dysplasia 11B ISO RGD:1351297 D RGD:7240710 20180130 OMIM 12106137 EDARADD EDAR associated death domain gene DOID:0111654 ectodermal dysplasia 11B ISO RGD:1351297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive PMID:11780064|PMID:17354266|PMID:25741868|PMID:26991760|PMID:28492532|PMID:9245989 12106137 EDARADD EDAR associated death domain gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1351297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PMID:11780064|PMID:17354266|PMID:20222921|PMID:9245989 12106137 EDARADD EDAR associated death domain gene DOID:0111665 ectodermal dysplasia 10B ISO RGD:1351297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 12106137 EDARADD EDAR associated death domain gene DOID:10754 otitis media ISO RGD:1564010 D RGD:9068941 20200609 RGD PMID:31028034|REF_RGD_ID:14398763 12106137 EDARADD EDAR associated death domain gene DOID:14793 hypohidrotic ectodermal dysplasia ISO RGD:1351297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia PMID:20222921|PMID:20979233|PMID:21626677|PMID:25741868|PMID:28492532 12106137 EDARADD EDAR associated death domain gene DOID:1540 parathyroid carcinoma ISO RGD:1351297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12106137 EDARADD EDAR associated death domain gene DOID:2121 ectodermal dysplasia ISO RGD:1351297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Recessive PMID:25741868|PMID:28492532 12106137 EDARADD EDAR associated death domain gene DOID:630 genetic disease ISO RGD:1351297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106137 EDARADD EDAR associated death domain gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12106165 ABCC11 ATP binding cassette subfamily C member 11 gene DOID:0111041 glycogen storage disease IXb ISO RGD:1350146 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 12106165 ABCC11 ATP binding cassette subfamily C member 11 gene DOID:630 genetic disease ISO RGD:1350146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106165 ABCC11 ATP binding cassette subfamily C member 11 gene DOID:9000918 Disease Progression ISO RGD:1350146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12106239 RIPK1 receptor interacting serine/threonine kinase 1 gene DOID:0111952 immunodeficiency 57 ISO RGD:1320896 D RGD:7240710 20190410 OMIM 12106239 RIPK1 receptor interacting serine/threonine kinase 1 gene DOID:0111952 immunodeficiency 57 ISO RGD:1320896 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome | ClinVar Annotator: match by term: Immunodeficiency 57 PMID:25741868|PMID:28492532|PMID:30026316|PMID:30591564|PMID:31213653|PMID:32181283 12106239 RIPK1 receptor interacting serine/threonine kinase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320897 D RGD:9068941 20200609 RGD PMID:22908283|REF_RGD_ID:7777166 12106239 RIPK1 receptor interacting serine/threonine kinase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1320896 D RGD:9068941 20200609 RGD PMID:19778795|REF_RGD_ID:7777170 12106239 RIPK1 receptor interacting serine/threonine kinase 1 gene DOID:1826 epilepsy ameliorates ISO RGD:1310158 D RGD:9068941 20230216 RGD PMID:32308116|REF_RGD_ID:156420143 12106239 RIPK1 receptor interacting serine/threonine kinase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12106239 RIPK1 receptor interacting serine/threonine kinase 1 gene DOID:630 genetic disease ISO RGD:1320896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12106239 RIPK1 receptor interacting serine/threonine kinase 1 gene DOID:9004604 Autoinflammation with Episodic Fever and Lymphadenopathy ISO RGD:1320896 D RGD:7240710 20200708 OMIM 12106239 RIPK1 receptor interacting serine/threonine kinase 1 gene DOID:9004604 Autoinflammation with Episodic Fever and Lymphadenopathy ISO RGD:1320896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoinflammation with episodic fever and lymphadenopathy PMID:25741868|PMID:28492532|PMID:31827280|PMID:31827281 12106239 RIPK1 receptor interacting serine/threonine kinase 1 gene DOID:9201 lichen planus ISO RGD:1320896 D RGD:9068941 20200609 RGD PMID:20368033|REF_RGD_ID:7777168 12106303 LENG1 leukocyte receptor cluster member 1 gene DOID:630 genetic disease ISO RGD:1317415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106311 SCN7A sodium voltage-gated channel alpha subunit 7 gene DOID:12849 autistic disorder ISO RGD:1601888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18621663 12106311 SCN7A sodium voltage-gated channel alpha subunit 7 gene DOID:630 genetic disease ISO RGD:1601888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12106348 CLEC17A C-type lectin domain containing 17A gene DOID:630 genetic disease ISO RGD:1601795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106395 AVP arginine vasopressin gene DOID:0050700 cardiomyopathy ISO RGD:68968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12145768 12106395 AVP arginine vasopressin gene DOID:0060001 withdrawal disorder ISO RGD:68968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4040330 12106395 AVP arginine vasopressin gene DOID:0090103 Huntington's disease-like 1 ISO RGD:68968 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12106395 AVP arginine vasopressin gene DOID:10762 portal hypertension ISO RGD:2184 D RGD:9068941 20200609 RGD PMID:18987488|REF_RGD_ID:2301924 12106395 AVP arginine vasopressin gene DOID:10762 portal hypertension ISO RGD:68968 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:6696534 12106395 AVP arginine vasopressin gene DOID:10763 hypertension ISO RGD:2184 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery PMID:12623976|REF_RGD_ID:1601305 12106395 AVP arginine vasopressin gene DOID:10763 hypertension ISO RGD:2184 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16582573|REF_RGD_ID:1601243 12106395 AVP arginine vasopressin gene DOID:10763 hypertension ISO RGD:68968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1663982|PMID:19133994|PMID:3346065|PMID:4040330|PMID:6367368 12106395 AVP arginine vasopressin gene DOID:10914 amnestic disorder ISO RGD:68968 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7562510 12106395 AVP arginine vasopressin gene DOID:12388 neurohypophyseal diabetes insipidus ISO RGD:68968 D RGD:7240710 20180130 OMIM 12106395 AVP arginine vasopressin gene DOID:12388 neurohypophyseal diabetes insipidus ISO RGD:68968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes insipidus, neurohypophyseal, autosomal recessive | ClinVar Annotator: match by term: Neurohypophyseal diabetes insipidus PMID:10085151|PMID:10369876|PMID:10487710|PMID:11017955|PMID:11443218|PMID:12107248|PMID:14660745|PMID:14673472|PMID:15070970|PMID:1740104|PMID:1840604|PMID:25741868|PMID:28492532|PMID:31238300|PMID:3390991|PMID:6132221|PMID:7714110|PMID:8370681|PMID:8370682|PMID:8514868|PMID:8626836|PMID:8945633|PMID:9360520|PMID:9467595|PMID:9580132|PMID:9814475 12106395 AVP arginine vasopressin gene DOID:12849 autistic disorder ISO RGD:68968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8570775 12106395 AVP arginine vasopressin gene DOID:2468 psychotic disorder ISO RGD:68968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3567260 12106395 AVP arginine vasopressin gene DOID:3021 acute kidney failure ISO RGD:68968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2139164 12106395 AVP arginine vasopressin gene DOID:326 ischemia ISO RGD:68968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10440088|PMID:2139164 12106395 AVP arginine vasopressin gene DOID:3328 temporal lobe epilepsy ISO RGD:2184 D RGD:9068941 20200609 RGD PMID:12438923|REF_RGD_ID:1579871 12106395 AVP arginine vasopressin gene DOID:3401 inappropriate ADH syndrome ISO RGD:68968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:112579|PMID:6920297 12106395 AVP arginine vasopressin gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:68968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12106395 AVP arginine vasopressin gene DOID:4195 hyperglycemia ISO RGD:2184 D RGD:9068941 20200609 RGD PMID:16497839|REF_RGD_ID:1601303 12106395 AVP arginine vasopressin gene DOID:5409 lung small cell carcinoma ISO RGD:68968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2832203 12106395 AVP arginine vasopressin gene DOID:5419 schizophrenia ISO RGD:68968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3567260 12106395 AVP arginine vasopressin gene DOID:6000 congestive heart failure ISO RGD:68968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18179782 12106395 AVP arginine vasopressin gene DOID:630 genetic disease ISO RGD:68968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19129716|PMID:28492532 12106395 AVP arginine vasopressin gene DOID:8725 vascular dementia ISO RGD:2184 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:18925713|REF_RGD_ID:2303174 12106395 AVP arginine vasopressin gene DOID:9000064 Cardiac Arrhythmias ISO RGD:68968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6983645 12106395 AVP arginine vasopressin gene DOID:9000483 Angina Pectoris ISO RGD:68968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11128043|PMID:11791009 12106395 AVP arginine vasopressin gene DOID:9000641 Pain ISO RGD:68968 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2271928|PMID:6094376 12106395 AVP arginine vasopressin gene DOID:9001189 Drug Overdose ISO RGD:68968 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11914425 12106395 AVP arginine vasopressin gene DOID:9002211 Hyperalgesia ISO RGD:68968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9613798 12106395 AVP arginine vasopressin gene DOID:9002322 Shy-Drager Syndrome ISO RGD:68968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6850280 12106395 AVP arginine vasopressin gene DOID:9002549 Shock ISO RGD:68968 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10570779 12106395 AVP arginine vasopressin gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:68968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 12106395 AVP arginine vasopressin gene DOID:9005274 Polyuria ISO RGD:2184 D RGD:9068941 20201211 RGD PMID:10919858|REF_RGD_ID:2314654 12106395 AVP arginine vasopressin gene DOID:9005274 Polyuria ISO RGD:68968 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11012637 12106395 AVP arginine vasopressin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10220 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus PMID:18420743|REF_RGD_ID:2301919 12106395 AVP arginine vasopressin gene DOID:9006024 Hypotension ISO RGD:68968 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11171655|PMID:12019395|PMID:17357383|PMID:2485266|PMID:3544871 12106395 AVP arginine vasopressin gene DOID:9006635 Hyponatremia ISO RGD:68968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6920297 12106395 AVP arginine vasopressin gene DOID:9006635 Hyponatremia ISO RGD:68968 D RGD:9068941 20200609 RGD PMID:12590641|REF_RGD_ID:1579880 12106395 AVP arginine vasopressin gene DOID:9007096 Stroke ISO RGD:68968 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:15897635|REF_RGD_ID:1601304 12106395 AVP arginine vasopressin gene DOID:9007956 Febrile Seizures ISO RGD:2184 D RGD:9068941 20200609 RGD PMID:12438923|REF_RGD_ID:1579871 12106395 AVP arginine vasopressin gene DOID:9007993 Dehydration ISO RGD:2184 D RGD:9068941 20200609 RGD mRNA:increased expression:paraventricular hypothalamic nucleus, supraoptic nucleus PMID:17393298|REF_RGD_ID:2304139 12106395 AVP arginine vasopressin gene DOID:9007993 Dehydration ISO RGD:68968 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2554359 12106395 AVP arginine vasopressin gene DOID:9008023 Memory Disorders ISO RGD:68968 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11553362 12106395 AVP arginine vasopressin gene DOID:9008644 Dysmenorrhea ISO RGD:68968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10440088 12106395 AVP arginine vasopressin gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:68968 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:6983645 12106395 AVP arginine vasopressin gene DOID:9352 type 2 diabetes mellitus ISO RGD:2184 D RGD:9068941 20200609 RGD protein:increased expression:hypothalamus PMID:17940875|REF_RGD_ID:2301922 12106395 AVP arginine vasopressin gene DOID:9409 diabetes insipidus ISO RGD:68968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes insipidus PMID:25741868|PMID:28008190 12106395 AVP arginine vasopressin gene DOID:9409 diabetes insipidus treatment ISO RGD:2184 D RGD:9068941 20210917 RGD PMID:9396613|REF_RGD_ID:150429657 12106395 AVP arginine vasopressin gene DOID:9744 type 1 diabetes mellitus ISO RGD:2184 D RGD:9068941 20210226 RGD PMID:13995944|PMID:5692127|REF_RGD_ID:2314661|REF_RGD_ID:632128 12106402 DDX1 DEAD-box helicase 1 gene DOID:0080365 endometrial hyperplasia ISO RGD:737232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22248470 12106402 DDX1 DEAD-box helicase 1 gene DOID:13938 amenorrhea ISO RGD:737232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12106402 DDX1 DEAD-box helicase 1 gene DOID:303 substance-related disorder ISO RGD:737232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12106402 DDX1 DEAD-box helicase 1 gene DOID:5419 schizophrenia ISO RGD:737232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12106402 DDX1 DEAD-box helicase 1 gene DOID:5723 optic atrophy ISO RGD:737232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:32581362 12106402 DDX1 DEAD-box helicase 1 gene DOID:630 genetic disease ISO RGD:737232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106435 TSSK6 testis specific serine kinase 6 gene DOID:630 genetic disease ISO RGD:1605019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106440 EXOSC8 exosome component 8 gene DOID:0050952 spastic ataxia ISO RGD:1314633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 12106440 EXOSC8 exosome component 8 gene DOID:0112334 pontocerebellar hypoplasia type 1C ISO RGD:1314633 D RGD:7240710 20180130 OMIM 12106440 EXOSC8 exosome component 8 gene DOID:0112334 pontocerebellar hypoplasia type 1C ISO RGD:1314633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1C PMID:24989451|PMID:25741868|PMID:28492532 12106440 EXOSC8 exosome component 8 gene DOID:630 genetic disease ISO RGD:1314633 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12106462 SBNO1 strawberry notch homolog 1 gene DOID:10283 prostate cancer ISO RGD:1320657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12106462 SBNO1 strawberry notch homolog 1 gene DOID:5419 schizophrenia ISO RGD:1320657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 12106462 SBNO1 strawberry notch homolog 1 gene DOID:630 genetic disease ISO RGD:1320657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106462 SBNO1 strawberry notch homolog 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1320657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 12106503 NCBP2 nuclear cap binding protein subunit 2 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1313360 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 12106503 NCBP2 nuclear cap binding protein subunit 2 gene DOID:12849 autistic disorder ISO RGD:1313360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12106503 NCBP2 nuclear cap binding protein subunit 2 gene DOID:5419 schizophrenia ISO RGD:1313360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12106503 NCBP2 nuclear cap binding protein subunit 2 gene DOID:630 genetic disease ISO RGD:1313360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106519 BIN1 bridging integrator 1 gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:732350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:28492532 12106519 BIN1 bridging integrator 1 gene DOID:0111216 autosomal recessive centronuclear myopathy IAGP D RGD:12801476 20210603 OMIA Centronuclear myopathy 2, BIN1-related PMID:16674719|PMID:19135395|PMID:18271825|PMID:17017655|PMID:3680647|PMID:23754947 12106519 BIN1 bridging integrator 1 gene DOID:0111220 centronuclear myopathy 2 ISO RGD:732350 D RGD:7240710 20180130 OMIM 12106519 BIN1 bridging integrator 1 gene DOID:0111220 centronuclear myopathy 2 ISO RGD:732350 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:16199547|PMID:17576681|PMID:17676042|PMID:18414213|PMID:20142620|PMID:22912834|PMID:22960267|PMID:24033266|PMID:24755653|PMID:25262827|PMID:25640679|PMID:25741868|PMID:26101835|PMID:26467025|PMID:28492532|PMID:28687524|PMID:29103045|PMID:29950440|PMID:31127772|PMID:9536098 12106519 BIN1 bridging integrator 1 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:732350 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 12106519 BIN1 bridging integrator 1 gene DOID:10652 Alzheimer's disease ISO RGD:732350 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:21460841|PMID:33589840 12106519 BIN1 bridging integrator 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:732350 D RGD:9068941 20200609 RGD PMID:12532338|REF_RGD_ID:1580047 12106519 BIN1 bridging integrator 1 gene DOID:3459 breast carcinoma ISO RGD:732350 D RGD:9068941 20200609 RGD PMID:10652430|REF_RGD_ID:1580043 12106519 BIN1 bridging integrator 1 gene DOID:422 congenital structural myopathy ISO RGD:732350 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17676042 12106519 BIN1 bridging integrator 1 gene DOID:630 genetic disease ISO RGD:732350 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12106519 BIN1 bridging integrator 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:732350 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30503753 12106549 SLC22A1 solute carrier family 22 member 1 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:732626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 12106549 SLC22A1 solute carrier family 22 member 1 gene DOID:10487 Hirschsprung's disease ISO RGD:732626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 12106549 SLC22A1 solute carrier family 22 member 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:3224 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:20814153|REF_RGD_ID:7243879 12106549 SLC22A1 solute carrier family 22 member 1 gene DOID:1852 intrahepatic cholestasis ISO RGD:3224 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:19002567|REF_RGD_ID:7243885 12106549 SLC22A1 solute carrier family 22 member 1 gene DOID:1920 hyperuricemia treatment ISO RGD:737278 D RGD:9068941 20200609 RGD PMID:21154198|PMID:21909718|REF_RGD_ID:7243180|REF_RGD_ID:7244192 12106549 SLC22A1 solute carrier family 22 member 1 gene DOID:2841 asthma ISO RGD:3224 D RGD:9068941 20200609 RGD PMID:17328924|REF_RGD_ID:5686690 12106549 SLC22A1 solute carrier family 22 member 1 gene DOID:3021 acute kidney failure treatment ISO RGD:3224 D RGD:9068941 20200609 RGD PMID:22414646|REF_RGD_ID:7243179 12106549 SLC22A1 solute carrier family 22 member 1 gene DOID:630 genetic disease ISO RGD:732626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106549 SLC22A1 solute carrier family 22 member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12106549 SLC22A1 solute carrier family 22 member 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:737278 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:23228442|REF_RGD_ID:7243178 12106549 SLC22A1 solute carrier family 22 member 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:732626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12106549 SLC22A1 solute carrier family 22 member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3224 D RGD:9068941 20200609 RGD PMID:14718608|REF_RGD_ID:2317435 12106549 SLC22A1 solute carrier family 22 member 1 gene DOID:9005930 Endotoxemia treatment ISO RGD:3224 D RGD:9068941 20200609 RGD PMID:18313662|REF_RGD_ID:7243881 12106549 SLC22A1 solute carrier family 22 member 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3224 D RGD:9068941 20200609 RGD PMID:21835768|REF_RGD_ID:7243877 12106549 SLC22A1 solute carrier family 22 member 1 gene DOID:9970 obesity ISO RGD:732626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20956498 12106564 SHOX2 short stature homeobox 2 gene DOID:0060847 Leri-Weill dyschondrosteosis ISO RGD:11290 D RGD:9068941 20220825 MouseDO OMIM:127300 12106564 SHOX2 short stature homeobox 2 gene DOID:1324 lung cancer ISO RGD:736918 D RGD:9068941 20200609 RGD PMID:25331797|REF_RGD_ID:12859082 12106564 SHOX2 short stature homeobox 2 gene DOID:630 genetic disease ISO RGD:736918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106564 SHOX2 short stature homeobox 2 gene DOID:674 cleft palate ISO RGD:11290 D RGD:9068941 20200609 RGD PMID:16141225|REF_RGD_ID:12859081 12106575 RRS1 ribosome biogenesis regulator 1 homolog gene DOID:3910 lung adenocarcinoma ISO RGD:1322847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12106575 RRS1 ribosome biogenesis regulator 1 homolog gene DOID:630 genetic disease ISO RGD:1322847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106575 RRS1 ribosome biogenesis regulator 1 homolog gene DOID:9006205 Animal Disease Models ISO RGD:1322847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12106580 PLA2R1 phospholipase A2 receptor 1 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1350138 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868 12106580 PLA2R1 phospholipase A2 receptor 1 gene DOID:12849 autistic disorder ISO RGD:1350138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 12106580 PLA2R1 phospholipase A2 receptor 1 gene DOID:303 substance-related disorder ISO RGD:1350138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12106580 PLA2R1 phospholipase A2 receptor 1 gene DOID:557 kidney disease ISO RGD:1350138 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868 12106580 PLA2R1 phospholipase A2 receptor 1 gene DOID:630 genetic disease ISO RGD:1350138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12106615 IKZF2 IKAROS family zinc finger 2 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1318602 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 12106615 IKZF2 IKAROS family zinc finger 2 gene DOID:0080600 COVID-19 ISO RGD:1318602 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12106615 IKZF2 IKAROS family zinc finger 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1318602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12106615 IKZF2 IKAROS family zinc finger 2 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1318602 D RGD:9068941 20220204 RGD protein:decreased expression:venous blood, lung, regulatory T cell (human) PMID:26460798|REF_RGD_ID:151347635 12106615 IKZF2 IKAROS family zinc finger 2 gene DOID:630 genetic disease ISO RGD:1318602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106615 IKZF2 IKAROS family zinc finger 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12106615 IKZF2 IKAROS family zinc finger 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1318602 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334668 12106647 MEGF6 multiple EGF like domains 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:736662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12106647 MEGF6 multiple EGF like domains 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12106647 MEGF6 multiple EGF like domains 6 gene DOID:0110994 Joubert syndrome 25 ISO RGD:736662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12106647 MEGF6 multiple EGF like domains 6 gene DOID:0111934 immunodeficiency 38 ISO RGD:736662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12106647 MEGF6 multiple EGF like domains 6 gene DOID:0111935 immunodeficiency 16 ISO RGD:736662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12106647 MEGF6 multiple EGF like domains 6 gene DOID:630 genetic disease ISO RGD:736662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106647 MEGF6 multiple EGF like domains 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12106647 MEGF6 multiple EGF like domains 6 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:736662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12106689 GALNT17 polypeptide N-acetylgalactosaminyltransferase 17 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1342451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12106689 GALNT17 polypeptide N-acetylgalactosaminyltransferase 17 gene DOID:630 genetic disease ISO RGD:1342451 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106689 GALNT17 polypeptide N-acetylgalactosaminyltransferase 17 gene DOID:9005747 Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability ISO RGD:1342451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability PMID:23332918 12106704 RGS8 regulator of G protein signaling 8 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:737105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12106704 RGS8 regulator of G protein signaling 8 gene DOID:1540 parathyroid carcinoma ISO RGD:737105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12106704 RGS8 regulator of G protein signaling 8 gene DOID:630 genetic disease ISO RGD:737105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106704 RGS8 regulator of G protein signaling 8 gene DOID:9007090 Experimental Seizures ISO RGD:3571 D RGD:9068941 20200609 RGD PMID:12358788|REF_RGD_ID:13524540 12106704 RGS8 regulator of G protein signaling 8 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:737105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12106704 RGS8 regulator of G protein signaling 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12106730 LOC491316 midkine gene DOID:3454 brain infarction ISO RGD:69073 D RGD:9068941 20200609 RGD PMID:15450683|REF_RGD_ID:1582478 12106730 LOC491316 midkine gene DOID:4248 coronary stenosis ISO RGD:69073 D RGD:9068941 20200609 RGD PMID:10683378|REF_RGD_ID:1299187 12106730 LOC491316 midkine gene DOID:5419 schizophrenia ISO RGD:69143 D RGD:9068941 20220825 MouseDO OMIM:181500 12106730 LOC491316 midkine gene DOID:5844 myocardial infarction ISO RGD:69073 D RGD:9068941 20200609 RGD PMID:9568069|REF_RGD_ID:1582488 12106730 LOC491316 midkine gene DOID:7148 rheumatoid arthritis ISO RGD:69143 D RGD:9068941 20200609 RGD PMID:15146411|REF_RGD_ID:1581200 12106730 LOC491316 midkine gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:69073 D RGD:9068941 20200609 RGD PMID:9814819|REF_RGD_ID:9831448 12106730 LOC491316 midkine gene DOID:9004009 Reperfusion Injury ISO RGD:69143 D RGD:9068941 20200609 RGD PMID:15780085|REF_RGD_ID:1582475 12106732 HDAC4 histone deacetylase 4 gene DOID:0050581 brachydactyly ISO RGD:1316832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20691407 12106732 HDAC4 histone deacetylase 4 gene DOID:0050888 syndromic intellectual disability ISO RGD:1316832 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 12106732 HDAC4 histone deacetylase 4 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1316832 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 12106732 HDAC4 histone deacetylase 4 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1316832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12106732 HDAC4 histone deacetylase 4 gene DOID:0110972 brachydactyly type E1 ISO RGD:1316832 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Brachydactyly syndrome type E PMID:25741868|PMID:33537682 12106732 HDAC4 histone deacetylase 4 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1316832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12106732 HDAC4 histone deacetylase 4 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1316832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 12106732 HDAC4 histone deacetylase 4 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1316832 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:20691407|PMID:23188045|PMID:24715439|PMID:25741868|PMID:28492532|PMID:33537682 12106732 HDAC4 histone deacetylase 4 gene DOID:1059 intellectual disability ISO RGD:1316832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:28492532|PMID:33537682 12106732 HDAC4 histone deacetylase 4 gene DOID:10907 microcephaly ISO RGD:1316832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12106732 HDAC4 histone deacetylase 4 gene DOID:11054 urinary bladder cancer ISO RGD:1316832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21507255 12106732 HDAC4 histone deacetylase 4 gene DOID:11832 visual epilepsy ISO RGD:1550759 D RGD:9068941 20200609 RGD PMID:19672313|REF_RGD_ID:9681457 12106732 HDAC4 histone deacetylase 4 gene DOID:12377 spinal muscular atrophy ISO RGD:1550759 D RGD:9068941 20200609 RGD mRNA:increased expression:muscle: PMID:22798624|REF_RGD_ID:9681458 12106732 HDAC4 histone deacetylase 4 gene DOID:12704 ataxia telangiectasia ISO RGD:1316832 D RGD:9068941 20200609 RGD protein:altered localization:nucleus: PMID:22466704|REF_RGD_ID:9681455 12106732 HDAC4 histone deacetylase 4 gene DOID:12704 ataxia telangiectasia ISO RGD:1550759 D RGD:9068941 20200609 RGD protein:altered localization:nucleus: PMID:22466704|REF_RGD_ID:9681455 12106732 HDAC4 histone deacetylase 4 gene DOID:12704 ataxia telangiectasia treatment ISO RGD:1316832 D RGD:9068941 20200609 RGD PMID:22466704|REF_RGD_ID:9681455 12106732 HDAC4 histone deacetylase 4 gene DOID:14557 primary pulmonary hypertension ISO RGD:1316832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22711276 12106732 HDAC4 histone deacetylase 4 gene DOID:1790 malignant mesothelioma ISO RGD:1316832 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12106732 HDAC4 histone deacetylase 4 gene DOID:1875 impotence ISO RGD:1316832 D RGD:9068941 20200609 RGD protein:increased expression:penis: PMID:24636283|REF_RGD_ID:9590194 12106732 HDAC4 histone deacetylase 4 gene DOID:1936 atherosclerosis ameliorates ISO RGD:1550759 D RGD:9068941 20230330 RGD PMID:35854140|REF_RGD_ID:242905195 12106732 HDAC4 histone deacetylase 4 gene DOID:2773 contact dermatitis ISO RGD:1316832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12106732 HDAC4 histone deacetylase 4 gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:1316832 D RGD:9068941 20200609 RGD PMID:23824486|REF_RGD_ID:9681450 12106732 HDAC4 histone deacetylase 4 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:619979 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:brain: PMID:23480850|REF_RGD_ID:9681449 12106732 HDAC4 histone deacetylase 4 gene DOID:3627 aortic aneurysm ISO RGD:1316832 D RGD:9068941 20200609 RGD mRNA:decreased expression:aorta: PMID:19389706|REF_RGD_ID:9681448 12106732 HDAC4 histone deacetylase 4 gene DOID:630 genetic disease ISO RGD:1316832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33537682 12106732 HDAC4 histone deacetylase 4 gene DOID:6432 pulmonary hypertension ISO RGD:1316832 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:22711276|REF_RGD_ID:9590133 12106732 HDAC4 histone deacetylase 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1316832 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:21837748|REF_RGD_ID:9681451 12106732 HDAC4 histone deacetylase 4 gene DOID:8466 retinal degeneration treatment ISO RGD:1316832 D RGD:9068941 20200609 RGD PMID:19131628|REF_RGD_ID:9681456 12106732 HDAC4 histone deacetylase 4 gene DOID:8670 eating disorder ISO RGD:1316832 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: PMID:24216484|REF_RGD_ID:9681452 12106732 HDAC4 histone deacetylase 4 gene DOID:8670 eating disorder ISO RGD:1550759 D RGD:9068941 20220825 MouseDO 12106732 HDAC4 histone deacetylase 4 gene DOID:9000784 Fibrosis ISO RGD:619979 D RGD:9068941 20200609 RGD protein:increased expression:penis: PMID:24636283|REF_RGD_ID:9590194 12106732 HDAC4 histone deacetylase 4 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1316832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12106732 HDAC4 histone deacetylase 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1316832 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:24717296|REF_RGD_ID:9590311 12106732 HDAC4 histone deacetylase 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1550759 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:24717296|REF_RGD_ID:9590311 12106732 HDAC4 histone deacetylase 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:619979 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:24717296|REF_RGD_ID:9590311 12106732 HDAC4 histone deacetylase 4 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:619979 D RGD:9068941 20200609 RGD PMID:24717296|REF_RGD_ID:9590311 12106732 HDAC4 histone deacetylase 4 gene DOID:9002661 Diabetes Complications ISO RGD:1316832 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35554780 12106732 HDAC4 histone deacetylase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12106732 HDAC4 histone deacetylase 4 gene DOID:9004484 Sepsis ISO RGD:619979 D RGD:9068941 20200609 RGD PMID:23925573|REF_RGD_ID:9681446 12106732 HDAC4 histone deacetylase 4 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1316832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17988634 12106732 HDAC4 histone deacetylase 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619979 D RGD:9068941 20200609 RGD protein:increased activity:renal cortex: PMID:19553350|REF_RGD_ID:9590229 12106732 HDAC4 histone deacetylase 4 gene DOID:9005754 Hypoalgesia ISO RGD:1550759 D RGD:9068941 20200609 RGD PMID:19672313|REF_RGD_ID:9681457 12106732 HDAC4 histone deacetylase 4 gene DOID:9006182 Carotid Artery Injuries ISO RGD:619979 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery: PMID:19389706|REF_RGD_ID:9681448 12106732 HDAC4 histone deacetylase 4 gene DOID:9006432 Brachydactyly, Type E ISO RGD:1316832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24715439 12106732 HDAC4 histone deacetylase 4 gene DOID:9007096 Stroke ISO RGD:619979 D RGD:9068941 20200609 RGD PMID:24657831|REF_RGD_ID:9590303 12106732 HDAC4 histone deacetylase 4 gene DOID:9007607 NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES ISO RGD:1316832 D RGD:7240710 20220511 OMIM 12106732 HDAC4 histone deacetylase 4 gene DOID:9007607 NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES ISO RGD:1316832 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with central hypotonia and dysmorphic facies PMID:25741868|PMID:33537682 12106732 HDAC4 histone deacetylase 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1316832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12106732 HDAC4 histone deacetylase 4 gene DOID:9538 multiple myeloma ISO RGD:1316832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12106732 HDAC4 histone deacetylase 4 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1316832 D RGD:9068941 20200609 RGD PMID:23948281|REF_RGD_ID:9681454 12106732 HDAC4 histone deacetylase 4 gene DOID:9970 obesity ISO RGD:1316832 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:mononuclear cell, adipose tissue: PMID:24086512|REF_RGD_ID:9681453 12106761 ELN elastin gene DOID:0002116 pterygium ISO RGD:736469 D RGD:9068941 20200609 RGD protein:increased expression:conjunctiva: PMID:11021831|REF_RGD_ID:9585733 12106761 ELN elastin gene DOID:0050651 atrioventricular septal defect ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect PMID:25741868|PMID:28492532 12106761 ELN elastin gene DOID:0050922 gastrointestinal carcinoma ISO RGD:736469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gastrointestinal carcinoma PMID:25741868|PMID:28492532 12106761 ELN elastin gene DOID:0060041 autism spectrum disorder ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12106761 ELN elastin gene DOID:0060320 inguinal hernia ISO RGD:736469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inguinal hernia PMID:25741868|PMID:28492532 12106761 ELN elastin gene DOID:0070130 autosomal dominant cutis laxa 1 ISO RGD:736469 D RGD:7240710 20180418 OMIM 12106761 ELN elastin gene DOID:0070130 autosomal dominant cutis laxa 1 ISO RGD:736469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 1 PMID:10942104|PMID:11175284|PMID:12555228|PMID:15955094|PMID:16085695|PMID:16199547|PMID:17576681|PMID:18348261|PMID:19029017|PMID:19282817|PMID:19593948|PMID:19844261|PMID:20600892|PMID:21309044|PMID:23049958|PMID:23401415|PMID:24033266|PMID:25741868|PMID:26483232|PMID:28391405|PMID:28492532|PMID:29501665|PMID:29555671|PMID:29907982|PMID:31577255|PMID:31589614|PMID:5046633|PMID:7884000|PMID:8091333|PMID:9215670|PMID:9215671|PMID:9536098|PMID:9580666|PMID:9873040 12106761 ELN elastin gene DOID:0070142 autosomal dominant cutis laxa ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal dominant PMID:11175284|PMID:12555228|PMID:16894468|PMID:19029017|PMID:24033266|PMID:25741868|PMID:28492532 12106761 ELN elastin gene DOID:0080745 polymyositis ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:12643515|REF_RGD_ID:9585739 12106761 ELN elastin gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:67394 D RGD:9068941 20200609 RGD PMID:21478483|REF_RGD_ID:7207865 12106761 ELN elastin gene DOID:0111536 Buschke-Ollendorff syndrome ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:1629625|REF_RGD_ID:9585749 12106761 ELN elastin gene DOID:10325 silicosis ISO RGD:67394 D RGD:9068941 20200609 RGD protein:increased expression:lung connective tissue: PMID:7573374|REF_RGD_ID:9585691 12106761 ELN elastin gene DOID:1070 primary open angle glaucoma ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:1526740|REF_RGD_ID:9585735 12106761 ELN elastin gene DOID:10763 hypertension ISO RGD:736469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17039479 12106761 ELN elastin gene DOID:10825 essential hypertension ISO RGD:733666 D RGD:9068941 20220825 MouseDO OMIM:145500 | OMIM:603918 | OMIM:604329 | OMIM:607329 | OMIM:608742 | OMIM:610261 | OMIM:610262 | OMIM:610948 | OMIM:611014 12106761 ELN elastin gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:736469 D RGD:9068941 20200609 RGD DNA:SNPintron: rs2301995(human) PMID:22065928|REF_RGD_ID:7387224 12106761 ELN elastin gene DOID:10873 Kuhnt-Junius degeneration no_association ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:18326737|REF_RGD_ID:9585729 12106761 ELN elastin gene DOID:10923 sickle cell anemia ISO RGD:736469 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12106761 ELN elastin gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:736469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 12106761 ELN elastin gene DOID:12849 autistic disorder ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12106761 ELN elastin gene DOID:12918 thromboangiitis obliterans ISO RGD:736469 D RGD:9068941 20200609 RGD protein:increased expression:blood: PMID:8763587|REF_RGD_ID:9585753 12106761 ELN elastin gene DOID:13375 temporal arteritis ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:9101501|REF_RGD_ID:9585754 12106761 ELN elastin gene DOID:13378 Kawasaki disease ISO RGD:733666 D RGD:9068941 20200609 RGD PMID:21356372|REF_RGD_ID:9585741 12106761 ELN elastin gene DOID:13641 exfoliation syndrome ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:7777294|REF_RGD_ID:9585736 12106761 ELN elastin gene DOID:13948 bladder neck obstruction treatment ISO RGD:67394 D RGD:9068941 20200609 RGD PMID:23313213|REF_RGD_ID:7257549 12106761 ELN elastin gene DOID:14004 thoracic aortic aneurysm ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11175284|PMID:16199547|PMID:25741868|PMID:28492532 12106761 ELN elastin gene DOID:1712 aortic valve stenosis ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:11175284|REF_RGD_ID:1580327 12106761 ELN elastin gene DOID:1909 melanoma disease_progression ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:11979070|REF_RGD_ID:9585752 12106761 ELN elastin gene DOID:1909 melanoma disease_progression ISO RGD:736469 D RGD:9068941 20200609 RGD associated with Nevus, Pigmented; PMID:19032378|REF_RGD_ID:9585768 12106761 ELN elastin gene DOID:1928 Williams-Beuren syndrome ISO RGD:736469 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:10942104|PMID:25741868|PMID:28492532|PMID:31829210 12106761 ELN elastin gene DOID:1929 supravalvular aortic stenosis ISO RGD:736469 D RGD:7240710 20180130 OMIM 12106761 ELN elastin gene DOID:1929 supravalvular aortic stenosis ISO RGD:736469 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis | ClinVar Annotator: match by term: Supravalvar aortic stenosis, Eisenberg type PMID:10190324|PMID:10190538|PMID:10627943|PMID:10942104|PMID:11175284|PMID:12555228|PMID:16085695|PMID:16199547|PMID:16374472|PMID:16894468|PMID:17037986|PMID:17576681|PMID:18348261|PMID:19029017|PMID:19282817|PMID:19593948|PMID:19844261|PMID:22740173|PMID:23049958|PMID:23401415|PMID:23442826|PMID:24033266|PMID:25205790|PMID:25741868|PMID:26014430|PMID:26483232|PMID:27866049|PMID:28166811|PMID:28277377|PMID:28391405|PMID:28492532|PMID:29332214|PMID:29501665|PMID:29555671|PMID:29907982|PMID:30228022|PMID:31577255|PMID:31589614|PMID:31829210|PMID:34422331|PMID:7557968|PMID:7611295|PMID:7726172|PMID:7884000|PMID:8132745|PMID:8362925|PMID:8364568|PMID:8541862|PMID:8968740|PMID:9215670|PMID:9215671|PMID:9536098|PMID:9580666|PMID:9873040 12106761 ELN elastin gene DOID:2738 pseudoxanthoma elasticum ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:1936214|PMID:7524808|REF_RGD_ID:9585748|REF_RGD_ID:9585763 12106761 ELN elastin gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25106431 12106761 ELN elastin gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:16081882|REF_RGD_ID:1580326 12106761 ELN elastin gene DOID:3144 cutis laxa ISO RGD:736469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 12106761 ELN elastin gene DOID:3144 cutis laxa ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:15381555|PMID:2745999|REF_RGD_ID:1580330|REF_RGD_ID:9585732 12106761 ELN elastin gene DOID:3144 cutis laxa ISO RGD:736469 D RGD:9068941 20200609 RGD DNA:deletion mutations:cds: PMID:23442826|REF_RGD_ID:9585761 12106761 ELN elastin gene DOID:3144 cutis laxa ISO RGD:736469 D RGD:9068941 20200609 RGD DNA:deletions:exon:2012del,2039del(human) PMID:9873040|REF_RGD_ID:9585738 12106761 ELN elastin gene DOID:3144 cutis laxa ISO RGD:736469 D RGD:9068941 20200609 RGD associated with lung diseases; DNA:duplication: : PMID:15955094|REF_RGD_ID:9585740 12106761 ELN elastin gene DOID:3159 photosensitivity disease ISO RGD:736469 D RGD:9068941 20200609 RGD protein:decreased expression:skin: PMID:18753059|REF_RGD_ID:9585765 12106761 ELN elastin gene DOID:3627 aortic aneurysm ISO RGD:736469 D RGD:9068941 20200609 RGD associated with Cutis Laxa; PMID:16085695|REF_RGD_ID:9585744 12106761 ELN elastin gene DOID:3770 pulmonary fibrosis ISO RGD:736469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10761639|PMID:26817844 12106761 ELN elastin gene DOID:3827 congenital diaphragmatic hernia ISO RGD:67394 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung: PMID:12194112|REF_RGD_ID:9585688 12106761 ELN elastin gene DOID:418 systemic scleroderma ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:22563211|REF_RGD_ID:9585742 12106761 ELN elastin gene DOID:4448 macular degeneration ISO RGD:736469 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:16123400|REF_RGD_ID:9585737 12106761 ELN elastin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12106761 ELN elastin gene DOID:5082 liver cirrhosis severity ISO RGD:67394 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:22223197|REF_RGD_ID:9585666 12106761 ELN elastin gene DOID:5419 schizophrenia ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12106761 ELN elastin gene DOID:62 aortic valve disease ISO RGD:733666 D RGD:9068941 20220825 MouseDO 12106761 ELN elastin gene DOID:630 genetic disease ISO RGD:736469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10190324|PMID:10190538|PMID:10942104|PMID:11175284|PMID:17037986|PMID:17576681|PMID:19844261|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29501665|PMID:31577255|PMID:34422331|PMID:9215670|PMID:9215671|PMID:9536098 12106761 ELN elastin gene DOID:7148 rheumatoid arthritis ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:12643515|REF_RGD_ID:9585739 12106761 ELN elastin gene DOID:7693 abdominal aortic aneurysm ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:15944607|REF_RGD_ID:1580157 12106761 ELN elastin gene DOID:7693 abdominal aortic aneurysm treatment ISO RGD:67394 D RGD:9068941 20200609 RGD PMID:18585885|REF_RGD_ID:9585668 12106761 ELN elastin gene DOID:799 varicose veins ISO RGD:736469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Varicose veins PMID:25741868|PMID:28492532 12106761 ELN elastin gene DOID:8445 intestinal volvulus ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12106761 ELN elastin gene DOID:8505 dermatitis herpetiformis ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:8256113|REF_RGD_ID:9585750 12106761 ELN elastin gene DOID:8893 psoriasis treatment ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:6893335|REF_RGD_ID:9585764 12106761 ELN elastin gene DOID:8947 diabetic retinopathy ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:11707314|REF_RGD_ID:9585734 12106761 ELN elastin gene DOID:9001330 Urinary Incontinence, Stress ISO RGD:67394 D RGD:9068941 20200609 RGD PMID:19878076|REF_RGD_ID:7207866 12106761 ELN elastin gene DOID:9001831 Lichen Sclerosus et Atrophicus ISO RGD:736469 D RGD:9068941 20200609 RGD protein:altered expression:vulva: PMID:11683283|REF_RGD_ID:9585756 12106761 ELN elastin gene DOID:9002377 Supravalvar Aortic Stenosis, Eisenberg Type ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis, Eisenberg type PMID:11175284|PMID:16199547|PMID:25741868|PMID:28492532 12106761 ELN elastin gene DOID:9003133 Hypertelorism ISO RGD:736469 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:11175284|PMID:16199547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29555671|PMID:29907982|PMID:31589614 12106761 ELN elastin gene DOID:9003386 Sunburn ISO RGD:736469 D RGD:9068941 20200609 RGD mRNA:increased expression:skin: PMID:8040608|REF_RGD_ID:9585745 12106761 ELN elastin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12106761 ELN elastin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:67394 D RGD:9068941 20200609 RGD mRNA:increased expression:bladder: PMID:18279932|REF_RGD_ID:9585725 12106761 ELN elastin gene DOID:9006392 Anetoderma ISO RGD:736469 D RGD:9068941 20200609 RGD protein:decreased expression:skin: PMID:6736354|REF_RGD_ID:9585766 12106761 ELN elastin gene DOID:9007096 Stroke ISO RGD:736469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28492532 12106761 ELN elastin gene DOID:9007102 Myocardial Ischemia ISO RGD:736469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12106761 ELN elastin gene DOID:9008419 Volvulus Of Midgut ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12106761 ELN elastin gene DOID:9008537 Polypoidal Choroidal Vasculopathy no_association ISO RGD:736469 D RGD:9068941 20200609 RGD DNA:SNP: :rs2301995(human) PMID:21391811|REF_RGD_ID:9585730 12106761 ELN elastin gene DOID:9008537 Polypoidal Choroidal Vasculopathy susceptibility ISO RGD:736469 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :rs2301995(human) PMID:18326737|REF_RGD_ID:9585729 12106761 ELN elastin gene DOID:9009073 Diaphragmatic Hernia ISO RGD:736469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10359170 12106761 ELN elastin gene DOID:9074 systemic lupus erythematosus ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:12643515|REF_RGD_ID:9585739 12106761 ELN elastin gene DOID:9675 pulmonary emphysema ISO RGD:736469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25106431 12106761 ELN elastin gene DOID:9810 polyarteritis nodosa ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:12643515|REF_RGD_ID:9585739 12106807 LEMD2 LEM domain nuclear envelope protein 2 gene DOID:0050553 JMP syndrome ISO RGD:1313312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12106807 LEMD2 LEM domain nuclear envelope protein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1552183 D RGD:9068941 20230330 MouseDO 12106807 LEMD2 LEM domain nuclear envelope protein 2 gene DOID:0110243 cataract 46 juvenile-onset ISO RGD:1313312 D RGD:7240710 20190315 OMIM 12106807 LEMD2 LEM domain nuclear envelope protein 2 gene DOID:0110243 cataract 46 juvenile-onset ISO RGD:1313312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 46 juvenile-onset PMID:23806086|PMID:23863954|PMID:24088041|PMID:26788539|PMID:31061923|PMID:4061486 12106807 LEMD2 LEM domain nuclear envelope protein 2 gene DOID:10907 microcephaly ISO RGD:1313312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:30905398 12106807 LEMD2 LEM domain nuclear envelope protein 2 gene DOID:630 genetic disease ISO RGD:1313312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106807 LEMD2 LEM domain nuclear envelope protein 2 gene DOID:83 cataract ISO RGD:1313312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 12106807 LEMD2 LEM domain nuclear envelope protein 2 gene DOID:9000495 Tremor ISO RGD:1313312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intention tremor PMID:25741868|PMID:30905398 12106807 LEMD2 LEM domain nuclear envelope protein 2 gene DOID:9005616 Micrognathism ISO RGD:1313312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:25741868|PMID:30905398 12106807 LEMD2 LEM domain nuclear envelope protein 2 gene DOID:9006257 Growth Disorders ISO RGD:1313312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation PMID:25741868|PMID:30905398 12106807 LEMD2 LEM domain nuclear envelope protein 2 gene DOID:9007661 Dwarfism ISO RGD:1313312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:30905398 12106807 LEMD2 LEM domain nuclear envelope protein 2 gene DOID:9007917 Supernumerary Tooth ISO RGD:1313312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Teeth, supernumerary PMID:25741868|PMID:30905398 12106807 LEMD2 LEM domain nuclear envelope protein 2 gene DOID:930 orbital disease ISO RGD:1313312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proptosis PMID:25741868|PMID:30905398 12106823 NEDD4 NEDD4 E3 ubiquitin protein ligase gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:736612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 12106823 NEDD4 NEDD4 E3 ubiquitin protein ligase gene DOID:2717 Bloom syndrome ISO RGD:736612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12106823 NEDD4 NEDD4 E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:736612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106823 NEDD4 NEDD4 E3 ubiquitin protein ligase gene DOID:767 muscular atrophy ISO RGD:3157 D RGD:9068941 20200609 RGD protein:increased expression:gastrocnemius PMID:19125695|REF_RGD_ID:7242174 12106823 NEDD4 NEDD4 E3 ubiquitin protein ligase gene DOID:9000058 Keloid ISO RGD:736612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20711176 12106823 NEDD4 NEDD4 E3 ubiquitin protein ligase gene DOID:9007102 Myocardial Ischemia ISO RGD:736612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12106823 NEDD4 NEDD4 E3 ubiquitin protein ligase gene DOID:9256 colorectal cancer ISO RGD:736612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 12106872 ID1 inhibitor of DNA binding 1 gene DOID:13580 cholestasis ISO RGD:2858 D RGD:9068941 20200609 RGD protein:increased expression:liver, nucleus (rat) PMID:16628634|REF_RGD_ID:9686088 12106872 ID1 inhibitor of DNA binding 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:736819 D RGD:9068941 20200609 RGD protein:decreased expression:lung, wall of arteriole (human) PMID:20522807|REF_RGD_ID:9686087 12106872 ID1 inhibitor of DNA binding 1 gene DOID:14566 disease of cellular proliferation ISO RGD:736819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16966095 12106872 ID1 inhibitor of DNA binding 1 gene DOID:1686 glaucoma ISO RGD:736819 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (human) PMID:28990066|REF_RGD_ID:155630605 12106872 ID1 inhibitor of DNA binding 1 gene DOID:630 genetic disease ISO RGD:736819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106872 ID1 inhibitor of DNA binding 1 gene DOID:6432 pulmonary hypertension ISO RGD:2858 D RGD:9068941 20200609 RGD PMID:20522807|REF_RGD_ID:9686087 12106872 ID1 inhibitor of DNA binding 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2858 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord (rat) PMID:11746449|REF_RGD_ID:9686138 12106872 ID1 inhibitor of DNA binding 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736819 D RGD:9068941 20200806 CTD CTD Direct Evidence: therapeutic PMID:24910342 12106872 ID1 inhibitor of DNA binding 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21283680 12106872 ID1 inhibitor of DNA binding 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12106872 ID1 inhibitor of DNA binding 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:736819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12106872 ID1 inhibitor of DNA binding 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12106899 LIPN lipase family member N gene DOID:0060717 autosomal recessive congenital ichthyosis 8 ISO RGD:1349924 D RGD:7240710 20180130 OMIM 12106899 LIPN lipase family member N gene DOID:0060717 autosomal recessive congenital ichthyosis 8 ISO RGD:1349924 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 8 PMID:25741868|PMID:28492532 12106899 LIPN lipase family member N gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1349924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9286463|PMID:9467011 12106899 LIPN lipase family member N gene DOID:630 genetic disease ISO RGD:1349924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106899 LIPN lipase family member N gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1349924 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 12106913 WDCP WD repeat and coiled coil containing gene DOID:630 genetic disease ISO RGD:1601962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106936 GDF9 growth differentiation factor 9 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736579 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12106936 GDF9 growth differentiation factor 9 gene DOID:0080871 primary ovarian insufficiency 14 ISO RGD:736579 D RGD:7240710 20190315 OMIM 12106936 GDF9 growth differentiation factor 9 gene DOID:0080871 primary ovarian insufficiency 14 ISO RGD:736579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 14 PMID:25741868|PMID:29044499|PMID:34008892 12106936 GDF9 growth differentiation factor 9 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:736579 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 12106936 GDF9 growth differentiation factor 9 gene DOID:11612 polycystic ovary syndrome ISO RGD:736579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22825968 12106936 GDF9 growth differentiation factor 9 gene DOID:5426 primary ovarian insufficiency ISO RGD:736579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12106936 GDF9 growth differentiation factor 9 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome 12106936 GDF9 growth differentiation factor 9 gene DOID:630 genetic disease ISO RGD:736579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106936 GDF9 growth differentiation factor 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12106936 GDF9 growth differentiation factor 9 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736579 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12106962 STARD5 StAR related lipid transfer domain containing 5 gene DOID:2717 Bloom syndrome ISO RGD:1317618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12106962 STARD5 StAR related lipid transfer domain containing 5 gene DOID:630 genetic disease ISO RGD:1317618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106962 STARD5 StAR related lipid transfer domain containing 5 gene DOID:9256 colorectal cancer ISO RGD:1317618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12106976 PLAC8B placenta associated 8 B gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1317680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 12106976 PLAC8B placenta associated 8 B gene DOID:10603 glucose intolerance ISO RGD:1308102 D RGD:9068941 20200609 RGD associated with obesity PMID:26296322|REF_RGD_ID:10755343 12106976 PLAC8B placenta associated 8 B gene DOID:13272 Klebsiella pneumonia severity ISO RGD:1317681 D RGD:9068941 20210115 RGD PMID:17404296|REF_RGD_ID:40924563 12106976 PLAC8B placenta associated 8 B gene DOID:630 genetic disease ISO RGD:1317680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12106976 PLAC8B placenta associated 8 B gene DOID:684 hepatocellular carcinoma ISO RGD:1317680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12106976 PLAC8B placenta associated 8 B gene DOID:9000371 influenza A ISO RGD:1317681 D RGD:9068941 20210122 RGD PMID:32639988|REF_RGD_ID:40925929 12106976 PLAC8B placenta associated 8 B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12106976 PLAC8B placenta associated 8 B gene DOID:9002953 Escherichia Coli Infections severity ISO RGD:1317681 D RGD:9068941 20210115 RGD PMID:17404296|REF_RGD_ID:40924563 12106976 PLAC8B placenta associated 8 B gene DOID:9007692 Insulin Resistance ISO RGD:1308102 D RGD:9068941 20200609 RGD associated with obesity PMID:26296322|REF_RGD_ID:10755343 12106976 PLAC8B placenta associated 8 B gene DOID:9008090 Chlamydiaceae Infections exacerbates ISO RGD:1317681 D RGD:9068941 20210205 RGD PMID:22238459|REF_RGD_ID:40925930 12107018 COL25A1 collagen type XXV alpha 1 chain gene DOID:0081020 congenital fibrosis of the extraocular muscles 5 ISO RGD:1603375 D RGD:7240710 20180130 OMIM 12107018 COL25A1 collagen type XXV alpha 1 chain gene DOID:0081020 congenital fibrosis of the extraocular muscles 5 ISO RGD:1603375 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 5 PMID:25500261|PMID:25741868|PMID:31875546 12107018 COL25A1 collagen type XXV alpha 1 chain gene DOID:630 genetic disease ISO RGD:1603375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107090 MARS2 methionyl-tRNA synthetase 2, mitochondrial gene DOID:0050942 spastic ataxia 3 ISO RGD:1349073 D RGD:7240710 20180130 OMIM 12107090 MARS2 methionyl-tRNA synthetase 2, mitochondrial gene DOID:0050942 spastic ataxia 3 ISO RGD:1349073 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spastic ataxia 3 PMID:22448145|PMID:25741868|PMID:28492532 12107090 MARS2 methionyl-tRNA synthetase 2, mitochondrial gene DOID:0111468 combined oxidative phosphorylation deficiency 25 ISO RGD:1349073 D RGD:7240710 20180130 OMIM 12107090 MARS2 methionyl-tRNA synthetase 2, mitochondrial gene DOID:0111468 combined oxidative phosphorylation deficiency 25 ISO RGD:1349073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 25 PMID:25741868|PMID:25754315 12107090 MARS2 methionyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1349073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12107090 MARS2 methionyl-tRNA synthetase 2, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12107141 CDK5 cyclin dependent kinase 5 gene DOID:0080600 COVID-19 ISO RGD:70825 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12107141 CDK5 cyclin dependent kinase 5 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:70825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 12107141 CDK5 cyclin dependent kinase 5 gene DOID:0112231 lissencephaly 7 with cerebellar hypoplasia ISO RGD:70825 D RGD:7240710 20180130 OMIM 12107141 CDK5 cyclin dependent kinase 5 gene DOID:0112231 lissencephaly 7 with cerebellar hypoplasia ISO RGD:70825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia PMID:25560765 12107141 CDK5 cyclin dependent kinase 5 gene DOID:10652 Alzheimer's disease ISO RGD:70825 D RGD:9068941 20200609 RGD DNA:SNP:intron:g.149800G>C (human) PMID:15917097|REF_RGD_ID:13782365 12107141 CDK5 cyclin dependent kinase 5 gene DOID:10652 Alzheimer's disease treatment ISO RGD:70514 D RGD:9068941 20200609 RGD PMID:28269780|REF_RGD_ID:13508590 12107141 CDK5 cyclin dependent kinase 5 gene DOID:10652 Alzheimer's disease treatment ISO RGD:70826 D RGD:9068941 20200609 RGD PMID:28085018|REF_RGD_ID:13792587 12107141 CDK5 cyclin dependent kinase 5 gene DOID:12098 trigeminal neuralgia ISO RGD:70514 D RGD:9068941 20200609 RGD PMID:21161138|REF_RGD_ID:13782378 12107141 CDK5 cyclin dependent kinase 5 gene DOID:1596 depressive disorder treatment ISO RGD:70514 D RGD:9068941 20200609 RGD PMID:21682945|REF_RGD_ID:13782377 12107141 CDK5 cyclin dependent kinase 5 gene DOID:224 transient cerebral ischemia treatment ISO RGD:70514 D RGD:9068941 20200609 RGD PMID:28254431|REF_RGD_ID:13506925 12107141 CDK5 cyclin dependent kinase 5 gene DOID:2316 brain ischemia ISO RGD:70514 D RGD:9068941 20200609 RGD PMID:14502288|REF_RGD_ID:734740 12107141 CDK5 cyclin dependent kinase 5 gene DOID:2843 long QT syndrome ISO RGD:70825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 12107141 CDK5 cyclin dependent kinase 5 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:70826 D RGD:9068941 20200609 RGD PMID:11343650|REF_RGD_ID:734741 12107141 CDK5 cyclin dependent kinase 5 gene DOID:3525 middle cerebral artery infarction ISO RGD:70826 D RGD:9068941 20200609 RGD PMID:24920629|REF_RGD_ID:13782375 12107141 CDK5 cyclin dependent kinase 5 gene DOID:630 genetic disease ISO RGD:70825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107141 CDK5 cyclin dependent kinase 5 gene DOID:680 tauopathy ISO RGD:70825 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26945731 12107141 CDK5 cyclin dependent kinase 5 gene DOID:8725 vascular dementia treatment ISO RGD:70514 D RGD:9068941 20200609 RGD PMID:27118553|REF_RGD_ID:13792766 12107141 CDK5 cyclin dependent kinase 5 gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:70514 D RGD:9068941 20200609 RGD PMID:25301568|REF_RGD_ID:13782374 12107141 CDK5 cyclin dependent kinase 5 gene DOID:9005372 Inflammation ISO RGD:70514 D RGD:9068941 20200609 RGD PMID:16407116|REF_RGD_ID:13782383 12107141 CDK5 cyclin dependent kinase 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:70826 D RGD:9068941 20200609 RGD PMID:11268215|REF_RGD_ID:734739 12107141 CDK5 cyclin dependent kinase 5 gene DOID:9009105 HIV Encephalitis ISO RGD:70514 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:hippocampus PMID:28107387|REF_RGD_ID:13506927 12107159 SYPL1 synaptophysin like 1 gene DOID:1059 intellectual disability ISO RGD:1346991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12107159 SYPL1 synaptophysin like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12107159 SYPL1 synaptophysin like 1 gene DOID:630 genetic disease ISO RGD:1346991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107168 RNF13 ring finger protein 13 gene DOID:0050579 glycogen storage disease XV ISO RGD:1351392 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12107168 RNF13 ring finger protein 13 gene DOID:0112209 developmental and epileptic encephalopathy 73 ISO RGD:1351392 D RGD:7240710 20190417 OMIM 12107168 RNF13 ring finger protein 13 gene DOID:0112209 developmental and epileptic encephalopathy 73 ISO RGD:1351392 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 73 PMID:25741868|PMID:28492532|PMID:30595371 12107168 RNF13 ring finger protein 13 gene DOID:630 genetic disease ISO RGD:1351392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12107192 RAB40B RAB40B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1313826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107192 RAB40B RAB40B, member RAS oncogene family gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12107193 SPC24 SPC24 component of NDC80 kinetochore complex gene DOID:0050990 episodic ataxia type 2 ISO RGD:1604521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12107193 SPC24 SPC24 component of NDC80 kinetochore complex gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1604521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12107193 SPC24 SPC24 component of NDC80 kinetochore complex gene DOID:0111254 glutaric acidemia I ISO RGD:1604521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12107193 SPC24 SPC24 component of NDC80 kinetochore complex gene DOID:3413 alpha-mannosidosis ISO RGD:1604521 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12107193 SPC24 SPC24 component of NDC80 kinetochore complex gene DOID:630 genetic disease ISO RGD:1604521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107214 SLC1A2 solute carrier family 1 member 2 gene DOID:0080442 developmental and epileptic encephalopathy 41 ISO RGD:732300 D RGD:7240710 20190315 OMIM 12107214 SLC1A2 solute carrier family 1 member 2 gene DOID:0080442 developmental and epileptic encephalopathy 41 ISO RGD:732300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 41 PMID:23107647|PMID:23934111|PMID:24214974|PMID:25741868|PMID:27476654|PMID:28492532|PMID:28777935|PMID:31164858|PMID:31618753 12107214 SLC1A2 solute carrier family 1 member 2 gene DOID:1059 intellectual disability ISO RGD:732300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12107214 SLC1A2 solute carrier family 1 member 2 gene DOID:12858 Huntington's disease ISO RGD:732300 D RGD:9068941 20200609 RGD PMID:9100675|REF_RGD_ID:13432194 12107214 SLC1A2 solute carrier family 1 member 2 gene DOID:12858 Huntington's disease ISO RGD:736773 D RGD:9068941 20200609 RGD PMID:17409241|REF_RGD_ID:13432195 12107214 SLC1A2 solute carrier family 1 member 2 gene DOID:1826 epilepsy ISO RGD:732300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19853022 12107214 SLC1A2 solute carrier family 1 member 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11723166 12107214 SLC1A2 solute carrier family 1 member 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732300 D RGD:9068941 20200609 RGD mRNA:processing errors:spinal cord, motor cortex (human) PMID:9539131|REF_RGD_ID:1302517 12107214 SLC1A2 solute carrier family 1 member 2 gene DOID:630 genetic disease ISO RGD:732300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12107214 SLC1A2 solute carrier family 1 member 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:732300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21471434 12107214 SLC1A2 solute carrier family 1 member 2 gene DOID:9002955 Nerve Degeneration ISO RGD:732300 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22645130 12107214 SLC1A2 solute carrier family 1 member 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732300 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19625514 12107214 SLC1A2 solute carrier family 1 member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 12107235 CIRBP cold inducible RNA binding protein gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1343841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 12107235 CIRBP cold inducible RNA binding protein gene DOID:0060041 autism spectrum disorder ISO RGD:1343841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 12107235 CIRBP cold inducible RNA binding protein gene DOID:5339 cyclic hematopoiesis ISO RGD:1343841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12107235 CIRBP cold inducible RNA binding protein gene DOID:630 genetic disease ISO RGD:1343841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107235 CIRBP cold inducible RNA binding protein gene DOID:9001579 Neurogenic Inflammation ISO RGD:1343841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24223948 12107235 CIRBP cold inducible RNA binding protein gene DOID:9007102 Myocardial Ischemia ISO RGD:1343841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12107235 CIRBP cold inducible RNA binding protein gene DOID:9007727 Alcohol-Induced Disorders, Nervous System ISO RGD:1343841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24223948 12107261 ANO10 anoctamin 10 gene DOID:0050729 neutral lipid storage disease ISO RGD:1605667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis PMID:11590543|PMID:28492532 12107261 ANO10 anoctamin 10 gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1605667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:24033266|PMID:25089919|PMID:25133958|PMID:25182700|PMID:25664549|PMID:25664551|PMID:25741868|PMID:26467025|PMID:27045840|PMID:27142713|PMID:28492532|PMID:29482223|PMID:29915382|PMID:30078120 12107261 ANO10 anoctamin 10 gene DOID:0050999 autosomal recessive spinocerebellar ataxia 10 ISO RGD:1605667 D RGD:7240710 20180130 OMIM 12107261 ANO10 anoctamin 10 gene DOID:0050999 autosomal recessive spinocerebellar ataxia 10 ISO RGD:1605667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 10 PMID:21092923|PMID:24033266|PMID:25089919|PMID:25133958|PMID:25182700|PMID:25425649|PMID:25664549|PMID:25664551|PMID:25730773|PMID:25741868|PMID:25976027|PMID:26467025|PMID:27045840|PMID:27091155|PMID:27142713|PMID:27270446|PMID:28492532|PMID:29482223|PMID:29915382|PMID:30078120|PMID:31477691|PMID:32620747|PMID:33223419|PMID:34906502 12107261 ANO10 anoctamin 10 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1605667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 12107261 ANO10 anoctamin 10 gene DOID:630 genetic disease ISO RGD:1605667 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12107261 ANO10 anoctamin 10 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1605667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive PMID:24033266|PMID:25089919|PMID:25133958|PMID:25182700|PMID:25664549|PMID:25664551|PMID:25741868|PMID:26467025|PMID:27045840|PMID:27142713|PMID:28492532|PMID:29482223|PMID:29915382|PMID:30078120 12107279 PGAM1 phosphoglycerate mutase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12107279 PGAM1 phosphoglycerate mutase 1 gene DOID:299 adenocarcinoma ISO RGD:737211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 12107279 PGAM1 phosphoglycerate mutase 1 gene DOID:305 carcinoma ISO RGD:737211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12107279 PGAM1 phosphoglycerate mutase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:737211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 12107279 PGAM1 phosphoglycerate mutase 1 gene DOID:630 genetic disease ISO RGD:737211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107279 PGAM1 phosphoglycerate mutase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:737211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 12107279 PGAM1 phosphoglycerate mutase 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12107279 PGAM1 phosphoglycerate mutase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12107279 PGAM1 phosphoglycerate mutase 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:737211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12107287 LYSMD2 LysM domain containing 2 gene DOID:0080445 developmental and epileptic encephalopathy 13 ISO RGD:1605838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 12107287 LYSMD2 LysM domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1605838 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12107287 LYSMD2 LysM domain containing 2 gene DOID:2717 Bloom syndrome ISO RGD:1605838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12107287 LYSMD2 LysM domain containing 2 gene DOID:607 paraplegia ISO RGD:1605838 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 12107287 LYSMD2 LysM domain containing 2 gene DOID:630 genetic disease ISO RGD:1605838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107287 LYSMD2 LysM domain containing 2 gene DOID:9256 colorectal cancer ISO RGD:1605838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12107300 EPHA4 EPH receptor A4 gene DOID:10652 Alzheimer's disease ISO RGD:1345605 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:19542617|REF_RGD_ID:6218956 12107300 EPHA4 EPH receptor A4 gene DOID:10652 Alzheimer's disease ISO RGD:1558389 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:19542617|REF_RGD_ID:6218956 12107300 EPHA4 EPH receptor A4 gene DOID:3602 toxic encephalopathy ISO RGD:1560587 D RGD:9068941 20200609 RGD PMID:10336070|REF_RGD_ID:5688752 12107300 EPHA4 EPH receptor A4 gene DOID:630 genetic disease ISO RGD:1345605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12107300 EPHA4 EPH receptor A4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1558389 D RGD:9068941 20200609 RGD PMID:21931787|REF_RGD_ID:5688764 12107300 EPHA4 EPH receptor A4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1560587 D RGD:9068941 20200609 RGD PMID:17418490|PMID:17970742|REF_RGD_ID:5688750|REF_RGD_ID:5688782 12107300 EPHA4 EPH receptor A4 gene DOID:9000998 Brain Injuries ISO RGD:1345605 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:astrocyte PMID:22318127|REF_RGD_ID:5688763 12107300 EPHA4 EPH receptor A4 gene DOID:9001793 Generalized Epilepsy ISO RGD:1345605 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 12107300 EPHA4 EPH receptor A4 gene DOID:9002211 Hyperalgesia ISO RGD:1560587 D RGD:9068941 20200609 RGD associated with spinal cord injuries; PMID:16959251|REF_RGD_ID:5688783 12107300 EPHA4 EPH receptor A4 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1560587 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:21736568|REF_RGD_ID:5688765 12107300 EPHA4 EPH receptor A4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12107300 EPHA4 EPH receptor A4 gene DOID:9007402 Gliosis ISO RGD:1558389 D RGD:9068941 20200609 RGD associated with spinal cord injuries; PMID:15537875|REF_RGD_ID:5688771 12107300 EPHA4 EPH receptor A4 gene DOID:9007402 Gliosis no_association ISO RGD:1558389 D RGD:9068941 20200609 RGD associated with spinal cord injuries; PMID:20170651|REF_RGD_ID:5688772 12107329 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:0112344 hereditary spastic paraplegia 79 ISO RGD:733510 D RGD:7240710 20180130 OMIM 12107329 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:0112344 hereditary spastic paraplegia 79 ISO RGD:733510 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | ClinVar Annotator: match by term: Spastic paraplegia 79A, autosomal dominant, with ataxia PMID:10203348|PMID:10563640|PMID:12408865|PMID:15048890|PMID:16450370|PMID:18411255|PMID:19864305|PMID:21268678|PMID:22839974|PMID:23359680|PMID:25741868|PMID:28007905|PMID:28492532|PMID:3340629|PMID:35986737|PMID:4514348 12107329 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:10652 Alzheimer's disease ISO RGD:733510 D RGD:9068941 20200609 RGD PMID:14722078|REF_RGD_ID:1580538 12107329 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:14330 Parkinson's disease ISO RGD:733510 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant PMID:25741868|PMID:28492532 12107329 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:2367 neuroaxonal dystrophy ISO RGD:736277 D RGD:9068941 20200609 RGD DNA:deletion PMID:11555633|REF_RGD_ID:1302546 12107329 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 12107329 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:5679 retinal disease ISO RGD:3928 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:18836575|REF_RGD_ID:5490154 12107329 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:574 peripheral nervous system disease ISO RGD:733510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16797537 12107329 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:630 genetic disease ISO RGD:733510 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 12107329 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:684 hepatocellular carcinoma ISO RGD:733510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18666234 12107329 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:733510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16965602 12107329 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:733510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15930319 12107329 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:9000123 Deglutition Disorders ISO RGD:736277 D RGD:9068941 20200609 RGD DNA:deletion PMID:11555633|REF_RGD_ID:1302546 12107329 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:733510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 12107329 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:9006626 Parkinson's Disease 5 ISO RGD:733510 D RGD:7240710 20230505 OMIM 12107329 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:9006626 Parkinson's Disease 5 ISO RGD:733510 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Parkinson disease 5, autosomal dominant, susceptibility to PMID:10203348|PMID:10563640|PMID:12408865|PMID:15048890|PMID:16450370|PMID:18411255|PMID:18550537|PMID:19864305|PMID:21268678|PMID:22839974|PMID:25741868|PMID:28007905|PMID:28492532|PMID:4514348|PMID:9774100 12107329 UCHL1 ubiquitin C-terminal hydrolase L1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:733510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18958481 12107342 HMGXB4 HMG-box containing 4 gene DOID:630 genetic disease ISO RGD:1314021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107370 SOWAHC sosondowah ankyrin repeat domain family member C gene DOID:630 genetic disease ISO RGD:1349983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107375 SAR1B secretion associated Ras related GTPase 1B gene DOID:0060357 chylomicron retention disease ISO RGD:1313710 D RGD:7240710 20180130 OMIM 12107375 SAR1B secretion associated Ras related GTPase 1B gene DOID:0060357 chylomicron retention disease ISO RGD:1313710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chylomicron retention disease PMID:10665502|PMID:12692552|PMID:17309654|PMID:17945526|PMID:19285442|PMID:24033266|PMID:25741868|PMID:28492532 12107375 SAR1B secretion associated Ras related GTPase 1B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313710 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12107375 SAR1B secretion associated Ras related GTPase 1B gene DOID:630 genetic disease ISO RGD:1313710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19846172|PMID:21235735|PMID:28492532|PMID:29713611|PMID:30782561|PMID:9536098 12107375 SAR1B secretion associated Ras related GTPase 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12107375 SAR1B secretion associated Ras related GTPase 1B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313710 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12107375 SAR1B secretion associated Ras related GTPase 1B gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1313710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:12692552|PMID:25741868 12107386 DCAF10 DDB1 and CUL4 associated factor 10 gene DOID:630 genetic disease ISO RGD:1352348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107397 HECTD3 HECT domain E3 ubiquitin protein ligase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12107397 HECTD3 HECT domain E3 ubiquitin protein ligase 3 gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1606229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:28492532 12107397 HECTD3 HECT domain E3 ubiquitin protein ligase 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12107397 HECTD3 HECT domain E3 ubiquitin protein ligase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12107397 HECTD3 HECT domain E3 ubiquitin protein ligase 3 gene DOID:630 genetic disease ISO RGD:1606229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107427 LOC483211 filaggrin-2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12107427 LOC483211 filaggrin-2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12107427 LOC483211 filaggrin-2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12107427 LOC483211 filaggrin-2 gene DOID:1540 parathyroid carcinoma ISO RGD:1603471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12107427 LOC483211 filaggrin-2 gene DOID:5812 MHC class II deficiency ISO RGD:1603471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12107427 LOC483211 filaggrin-2 gene DOID:630 genetic disease ISO RGD:1603471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107427 LOC483211 filaggrin-2 gene DOID:9009226 Peeling Skin Syndrome 6 ISO RGD:1603471 D RGD:7240710 20200122 OMIM 12107427 LOC483211 filaggrin-2 gene DOID:9009226 Peeling Skin Syndrome 6 ISO RGD:1603471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peeling skin syndrome 6 PMID:25741868|PMID:28884927|PMID:29505760|PMID:29758285|PMID:36403663 12107427 LOC483211 filaggrin-2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12107441 DTX4 deltex E3 ubiquitin ligase 4 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1323395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12107441 DTX4 deltex E3 ubiquitin ligase 4 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12107441 DTX4 deltex E3 ubiquitin ligase 4 gene DOID:1059 intellectual disability ISO RGD:1323395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12107441 DTX4 deltex E3 ubiquitin ligase 4 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1323395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 12107441 DTX4 deltex E3 ubiquitin ligase 4 gene DOID:630 genetic disease ISO RGD:1323395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107454 GLYAT glycine-N-acyltransferase gene DOID:1059 intellectual disability ISO RGD:1316190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12107454 GLYAT glycine-N-acyltransferase gene DOID:630 genetic disease ISO RGD:1316190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107474 DIRAS1 DIRAS family GTPase 1 gene DOID:308 early myoclonic encephalopathy IAGP D RGD:12801476 20210603 OMIA Epilepsy, generalized myoclonic, with photosensitivity PMID:28223533|PMID:29194766 12107474 DIRAS1 DIRAS family GTPase 1 gene DOID:630 genetic disease ISO RGD:1321350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107474 DIRAS1 DIRAS family GTPase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12107481 SCARA5 scavenger receptor class A member 5 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1606661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12107481 SCARA5 scavenger receptor class A member 5 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1606661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12107481 SCARA5 scavenger receptor class A member 5 gene DOID:630 genetic disease ISO RGD:1606661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107496 VDR vitamin D receptor gene DOID:0060041 autism spectrum disorder susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs731236,rs1544410(human) PMID:26073892|REF_RGD_ID:11053054 12107496 VDR vitamin D receptor gene DOID:0060041 autism spectrum disorder susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes: :rs731236,,rs1544410,rs2228570(human) PMID:27155524|REF_RGD_ID:13210779 12107496 VDR vitamin D receptor gene DOID:0060643 primary sclerosing cholangitis ISO RGD:619561 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:28146070|REF_RGD_ID:14401745 12107496 VDR vitamin D receptor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:11484 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:hepatocyte: PMID:27245430|REF_RGD_ID:14401753 12107496 VDR vitamin D receptor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:619561 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:hepatocyte: PMID:27245430|REF_RGD_ID:14401753 12107496 VDR vitamin D receptor gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:27245430|REF_RGD_ID:14401753 12107496 VDR vitamin D receptor gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:619561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:17970811|PMID:25741868 12107496 VDR vitamin D receptor gene DOID:0080750 erythema nodosum susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:polymorphism: : rs7975232(human) PMID:24880677|REF_RGD_ID:13217417 12107496 VDR vitamin D receptor gene DOID:0080883 vitamin D-dependent rickets ISO RGD:619561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitamin D-dependent rickets PMID:25741868|PMID:28492532 12107496 VDR vitamin D receptor gene DOID:0080884 vitamin D-dependent rickets type 2A IAGP D RGD:12801476 20210811 OMIA Vitamin D-deficiency rickets, type II PMID:19909429|PMID:34323302 12107496 VDR vitamin D receptor gene DOID:0080884 vitamin D-dependent rickets type 2A ISO RGD:619561 D RGD:7240710 20180130 OMIM 12107496 VDR vitamin D receptor gene DOID:0080884 vitamin D-dependent rickets type 2A ISO RGD:619561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D | ClinVar Annotator: match by term: PDDR IIA | ClinVar Annotator: match by term: PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 2A PMID:10204116|PMID:10707958|PMID:11564167|PMID:1652893|PMID:17130574|PMID:17371163|PMID:17576681|PMID:17970811|PMID:18159135|PMID:18279374|PMID:18593774|PMID:19682379|PMID:20200114|PMID:21073129|PMID:21168462|PMID:21424181|PMID:2174914|PMID:2177843|PMID:21931507|PMID:23180655|PMID:24033266|PMID:24246681|PMID:2557627|PMID:2558018|PMID:25741868|PMID:26177022|PMID:26198224|PMID:26590811|PMID:26631034|PMID:26787776|PMID:27164139|PMID:27607899|PMID:27778467|PMID:2849209|PMID:28492532|PMID:28620554|PMID:3024987|PMID:35738466|PMID:8392085|PMID:8675579|PMID:8862631|PMID:8961271|PMID:9005998|PMID:9360557|PMID:9495519|PMID:9536098 12107496 VDR vitamin D receptor gene DOID:0080884 vitamin D-dependent rickets type 2A treatment ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:24693968|REF_RGD_ID:13432060 12107496 VDR vitamin D receptor gene DOID:0080884 vitamin D-dependent rickets type 2A treatment ISO RGD:619561 D RGD:9068941 20200609 RGD PMID:24693968|REF_RGD_ID:13432060 12107496 VDR vitamin D receptor gene DOID:0080884 vitamin D-dependent rickets type 2A treatment ISO XCO:0000545 D RGD:9068941 20210402 RGD PMID:32231239|REF_RGD_ID:32716373 12107496 VDR vitamin D receptor gene DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B ISO RGD:619561 D RGD:9068941 20200609 RGD protein:increased expression:muscle: PMID:27558075|REF_RGD_ID:13210781 12107496 VDR vitamin D receptor gene DOID:10283 prostate cancer susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs11574143 (human) PMID:19255064|REF_RGD_ID:4889833 12107496 VDR vitamin D receptor gene DOID:10609 rickets ISO RGD:11484 D RGD:9068941 20220825 MouseDO OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 12107496 VDR vitamin D receptor gene DOID:10609 rickets ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1338926|PMID:17451081|PMID:22466564 12107496 VDR vitamin D receptor gene DOID:10609 rickets ISO RGD:619561 D RGD:9068941 20200609 RGD VDDR II,OMIM:277440;DNA:point mutation:exon:p.G33D, p.R70G (human) PMID:2849209|REF_RGD_ID:1624354 12107496 VDR vitamin D receptor gene DOID:10763 hypertension ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11335187 12107496 VDR vitamin D receptor gene DOID:11202 primary hyperparathyroidism susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :(rs1544410),(rs7975232),(rs731236)(human) PMID:9070272|REF_RGD_ID:13432057 12107496 VDR vitamin D receptor gene DOID:11476 osteoporosis ISO RGD:11484 D RGD:9068941 20220825 MouseDO OMIM:166710 12107496 VDR vitamin D receptor gene DOID:11476 osteoporosis no_association ISO RGD:619561 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:16713399|REF_RGD_ID:4889871 12107496 VDR vitamin D receptor gene DOID:11612 polycystic ovary syndrome susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype: :rs731236(human) PMID:24078159|REF_RGD_ID:13210783 12107496 VDR vitamin D receptor gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD associated with Premature Birth;DNA:SNPs: :rs2228570,rs731236(human) PMID:24796371|REF_RGD_ID:13432055 12107496 VDR vitamin D receptor gene DOID:11830 myopia susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:exon:c.2T>C (human) PMID:21897619|REF_RGD_ID:8157620 12107496 VDR vitamin D receptor gene DOID:12185 otosclerosis ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs, silent mutation:intron, cds: (rs731236, rs1544410, rs7975232) (human) PMID:23639864|REF_RGD_ID:8157627 12107496 VDR vitamin D receptor gene DOID:12185 otosclerosis no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: (rs2228570) (human) PMID:23639864|REF_RGD_ID:8157627 12107496 VDR vitamin D receptor gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: : PMID:19376604|REF_RGD_ID:14401750 12107496 VDR vitamin D receptor gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:15683428|REF_RGD_ID:14402024 12107496 VDR vitamin D receptor gene DOID:12306 vitiligo ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :multiple PMID:22738935|REF_RGD_ID:8158061 12107496 VDR vitamin D receptor gene DOID:12306 vitiligo ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :rs731236, rs1544410, rs7975232 (human) PMID:22762534|REF_RGD_ID:8158066 12107496 VDR vitamin D receptor gene DOID:12306 vitiligo no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs2228570 (human) PMID:22762534|REF_RGD_ID:8158066 12107496 VDR vitamin D receptor gene DOID:12361 Graves' disease ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs2228570 (human) PMID:17506475|REF_RGD_ID:8157632 12107496 VDR vitamin D receptor gene DOID:12361 Graves' disease ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1544410, rs10735810 (human) PMID:16279845|REF_RGD_ID:8158053 12107496 VDR vitamin D receptor gene DOID:12361 Graves' disease ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1544410, rs7975232 (human) PMID:11134121|REF_RGD_ID:8157628 12107496 VDR vitamin D receptor gene DOID:12361 Graves' disease ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype PMID:16100768|REF_RGD_ID:8157624 12107496 VDR vitamin D receptor gene DOID:12361 Graves' disease no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs2228570 (human) PMID:11134121|REF_RGD_ID:8157628 12107496 VDR vitamin D receptor gene DOID:12361 Graves' disease no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :rs731236, rs7975232 (human) PMID:16279845|REF_RGD_ID:8158053 12107496 VDR vitamin D receptor gene DOID:12466 secondary hyperparathyroidism treatment ISO RGD:3959 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:8807569|REF_RGD_ID:8158085 12107496 VDR vitamin D receptor gene DOID:13241 Behcet's disease ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs2228570 (human) PMID:21820934|REF_RGD_ID:8158077 12107496 VDR vitamin D receptor gene DOID:13241 Behcet's disease no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs1544410 (human) PMID:21820934|REF_RGD_ID:8158077 12107496 VDR vitamin D receptor gene DOID:13976 peptic esophagitis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) PMID:25910066|REF_RGD_ID:11055189 12107496 VDR vitamin D receptor gene DOID:14330 Parkinson's disease onset ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphisms: :rs4334089, rs2853559(human) PMID:21309754|REF_RGD_ID:13217419 12107496 VDR vitamin D receptor gene DOID:14499 Fabry disease susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: : PMID:18278558|REF_RGD_ID:13432071 12107496 VDR vitamin D receptor gene DOID:14566 disease of cellular proliferation ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10389917 12107496 VDR vitamin D receptor gene DOID:1612 breast cancer ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP, repeat: :rs1544410 (human) PMID:15328186|REF_RGD_ID:8158058 12107496 VDR vitamin D receptor gene DOID:1612 breast cancer ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs731236, rs1544410, rs7975232 (human) PMID:23554871|REF_RGD_ID:8157626 12107496 VDR vitamin D receptor gene DOID:1612 breast cancer ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:20431345|REF_RGD_ID:8157634 12107496 VDR vitamin D receptor gene DOID:1612 breast cancer ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype: :multiple PMID:18419802|REF_RGD_ID:8157631 12107496 VDR vitamin D receptor gene DOID:1612 breast cancer ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:repeat PMID:11461072|REF_RGD_ID:8158054 12107496 VDR vitamin D receptor gene DOID:1612 breast cancer ISO RGD:619561 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:19331145|REF_RGD_ID:8158065 12107496 VDR vitamin D receptor gene DOID:1612 breast cancer disease_progression ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs2228570 (human) PMID:23554871|REF_RGD_ID:8157626 12107496 VDR vitamin D receptor gene DOID:1612 breast cancer disease_progression ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1544410 (human) PMID:19124512|REF_RGD_ID:8158060 12107496 VDR vitamin D receptor gene DOID:1612 breast cancer no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs2228570 (human) PMID:11461072|REF_RGD_ID:8158054 12107496 VDR vitamin D receptor gene DOID:1612 breast cancer no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1989969, rs2228570, rs11568820 (human) PMID:23300018|REF_RGD_ID:8158069 12107496 VDR vitamin D receptor gene DOID:1612 breast cancer no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :rs731236, rs1544410 (human) PMID:14749534|REF_RGD_ID:8157636 12107496 VDR vitamin D receptor gene DOID:1612 breast cancer onset ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:repeat, SNP, haplotype:rs7975232 (human) PMID:19588543|REF_RGD_ID:8158055 12107496 VDR vitamin D receptor gene DOID:1614 male breast cancer no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :rs731236, rs7975232), rs10735810 (human) PMID:22331715|REF_RGD_ID:8157630 12107496 VDR vitamin D receptor gene DOID:1712 aortic valve stenosis ISO RGD:619561 D RGD:9068941 20200609 RGD PMID:11359741|REF_RGD_ID:1580365 12107496 VDR vitamin D receptor gene DOID:1749 squamous cell carcinoma ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs1544410 (human) PMID:16950800|REF_RGD_ID:8158080 12107496 VDR vitamin D receptor gene DOID:1749 squamous cell carcinoma ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs731236, rs7975232 (human) PMID:22213323|REF_RGD_ID:8158063 12107496 VDR vitamin D receptor gene DOID:1909 melanoma disease_progression ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs:exons: (rs731236, rs2228570) (human) PMID:10690530|REF_RGD_ID:8158068 12107496 VDR vitamin D receptor gene DOID:1909 melanoma severity ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs4516035 (human) PMID:19105801|REF_RGD_ID:8158067 12107496 VDR vitamin D receptor gene DOID:1936 atherosclerosis ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:25801026|REF_RGD_ID:14402022 12107496 VDR vitamin D receptor gene DOID:2043 hepatitis B disease_progression ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:19693091|REF_RGD_ID:14402030 12107496 VDR vitamin D receptor gene DOID:2043 hepatitis B susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphisms, hapoltype: : PMID:16733893|REF_RGD_ID:14401748 12107496 VDR vitamin D receptor gene DOID:2048 autoimmune hepatitis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:15683428|REF_RGD_ID:14402024 12107496 VDR vitamin D receptor gene DOID:2377 multiple sclerosis ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25853421 12107496 VDR vitamin D receptor gene DOID:2377 multiple sclerosis ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphisms: :rs731236,rs1544410,rs7975232(human) PMID:26540116|REF_RGD_ID:11353119 12107496 VDR vitamin D receptor gene DOID:2377 multiple sclerosis no_association ISO RGD:619561 D RGD:9068941 20200609 RGD PMID:27049563|REF_RGD_ID:11530654 12107496 VDR vitamin D receptor gene DOID:2377 multiple sclerosis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphisms: :rs731236,rs7975232(human) PMID:25685788|REF_RGD_ID:13210790 12107496 VDR vitamin D receptor gene DOID:2377 multiple sclerosis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:silent mutation, haplotype:cds: (rs731236) (human) PMID:21664963|REF_RGD_ID:5147559 12107496 VDR vitamin D receptor gene DOID:2513 basal cell carcinoma ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs731236, rs7975232 (human) PMID:22213323|REF_RGD_ID:8158063 12107496 VDR vitamin D receptor gene DOID:2513 basal cell carcinoma ISO RGD:619561 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:15077124|REF_RGD_ID:8158076 12107496 VDR vitamin D receptor gene DOID:2671 transitional cell carcinoma ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16080513 12107496 VDR vitamin D receptor gene DOID:2841 asthma ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:21103062|REF_RGD_ID:4889866 12107496 VDR vitamin D receptor gene DOID:2841 asthma ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs7975232 (human) PMID:19622139|REF_RGD_ID:4889868 12107496 VDR vitamin D receptor gene DOID:2841 asthma ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:15282200|REF_RGD_ID:4889854 12107496 VDR vitamin D receptor gene DOID:2841 asthma no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:20124605|REF_RGD_ID:4889867 12107496 VDR vitamin D receptor gene DOID:2957 pulmonary tuberculosis ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:15295697|REF_RGD_ID:4889853 12107496 VDR vitamin D receptor gene DOID:2957 pulmonary tuberculosis ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, 3' UTR (human) PMID:18231846|REF_RGD_ID:4889845 12107496 VDR vitamin D receptor gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:17236578|PMID:20231985|REF_RGD_ID:4889830|REF_RGD_ID:4889849 12107496 VDR vitamin D receptor gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs:5' UTR (human) PMID:18397302|REF_RGD_ID:4889842 12107496 VDR vitamin D receptor gene DOID:3310 atopic dermatitis no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs2228570 (human) PMID:23034014|REF_RGD_ID:8157625 12107496 VDR vitamin D receptor gene DOID:3310 atopic dermatitis severity ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs731236, rs1544410, rs7975232 (human) PMID:23034014|REF_RGD_ID:8157625 12107496 VDR vitamin D receptor gene DOID:332 amyotrophic lateral sclerosis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs7975232(human) PMID:26190642|REF_RGD_ID:11560790 12107496 VDR vitamin D receptor gene DOID:3328 temporal lobe epilepsy ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18534255 12107496 VDR vitamin D receptor gene DOID:3393 coronary artery disease severity ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:9761785|REF_RGD_ID:4889864 12107496 VDR vitamin D receptor gene DOID:3491 Turner syndrome susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs7975232(human) PMID:21823528|REF_RGD_ID:13432073 12107496 VDR vitamin D receptor gene DOID:399 tuberculosis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD associated with HIV Infections;DNA:SNPs:3' UTR (human) PMID:18712587|REF_RGD_ID:4889839 12107496 VDR vitamin D receptor gene DOID:4676 uremia ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 12107496 VDR vitamin D receptor gene DOID:4914 esophagus adenocarcinoma disease_progression ISO RGD:619561 D RGD:9068941 20200609 RGD PMID:24951052|REF_RGD_ID:13432070 12107496 VDR vitamin D receptor gene DOID:4914 esophagus adenocarcinoma susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) PMID:25910066|REF_RGD_ID:11055189 12107496 VDR vitamin D receptor gene DOID:5082 liver cirrhosis ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:23622244|REF_RGD_ID:14402027 12107496 VDR vitamin D receptor gene DOID:5082 liver cirrhosis severity ISO RGD:619561 D RGD:9068941 20200609 RGD PMID:30218108|REF_RGD_ID:14402031 12107496 VDR vitamin D receptor gene DOID:5082 liver cirrhosis severity ISO RGD:619561 D RGD:9068941 20200609 RGD associated with nonalcoholic fatty liver disease; DNA:SNP: :rs1544410(human) PMID:30683615|REF_RGD_ID:14401752 12107496 VDR vitamin D receptor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs:3' UTR (human) PMID:18712587|REF_RGD_ID:4889839 12107496 VDR vitamin D receptor gene DOID:552 pneumonia ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:17224129|REF_RGD_ID:4889851 12107496 VDR vitamin D receptor gene DOID:552 pneumonia susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs2239185(human) PMID:25367052|REF_RGD_ID:11074745 12107496 VDR vitamin D receptor gene DOID:630 genetic disease ISO RGD:619561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12107496 VDR vitamin D receptor gene DOID:684 hepatocellular carcinoma ISO RGD:619561 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:24033266|PMID:25741868|PMID:28492532 12107496 VDR vitamin D receptor gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic;DNA:SNP: :rs2228570(human) PMID:25541958|REF_RGD_ID:14402025 12107496 VDR vitamin D receptor gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD associated with alcoholic liver cirrhosis;DNA:haplotype:: PMID:20572305|REF_RGD_ID:14402026 12107496 VDR vitamin D receptor gene DOID:7148 rheumatoid arthritis ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs2228570 (human) PMID:21820934|REF_RGD_ID:8158077 12107496 VDR vitamin D receptor gene DOID:7148 rheumatoid arthritis no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs1544410 (human) PMID:21820934|REF_RGD_ID:8158077 12107496 VDR vitamin D receptor gene DOID:8893 psoriasis ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:silent mutation:cds: (rs731236) (human) PMID:17763859|REF_RGD_ID:8157633 12107496 VDR vitamin D receptor gene DOID:8893 psoriasis no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs:exon:multiple PMID:24320988|REF_RGD_ID:8157635 12107496 VDR vitamin D receptor gene DOID:8893 psoriasis no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs:intron, cds: (rs731236, rs1544410, rs7975232) (human) PMID:21951018|REF_RGD_ID:8158062 12107496 VDR vitamin D receptor gene DOID:8893 psoriasis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1012A>G (rs4516035) (human) PMID:24320988|REF_RGD_ID:8157635 12107496 VDR vitamin D receptor gene DOID:8893 psoriasis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:intron, cds, enhancer:multiple PMID:24055231|REF_RGD_ID:8158056 12107496 VDR vitamin D receptor gene DOID:8893 psoriasis treatment ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter, exon:-1012A>G, (rs731236, rs2228570) (human) PMID:15864137|REF_RGD_ID:8158072 12107496 VDR vitamin D receptor gene DOID:8893 psoriasis treatment ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:silent mutation:cds:pI352 (rs731236) (human) PMID:20716226|REF_RGD_ID:8158081 12107496 VDR vitamin D receptor gene DOID:8923 skin melanoma no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:19615888|PMID:22576141|REF_RGD_ID:8158071|REF_RGD_ID:8158075 12107496 VDR vitamin D receptor gene DOID:8923 skin melanoma susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:missense mutation, silent mutation: :p,M1T, p.I352 (c.1056T>C) (rs2228570, rs731236) (human) PMID:16990805|REF_RGD_ID:8157629 12107496 VDR vitamin D receptor gene DOID:8947 diabetic retinopathy ISO RGD:619561 D RGD:9068941 20200609 RGD PMID:15899948|REF_RGD_ID:1580363 12107496 VDR vitamin D receptor gene DOID:9000169 Systemic Inflammatory Response Syndrome susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD associated with pneumonia; DNA:SNP: :rs2239185(human) PMID:25367052|REF_RGD_ID:11074745 12107496 VDR vitamin D receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:619561 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:SNP:intron: (rs1544410) (human) PMID:9613456|REF_RGD_ID:8158057 12107496 VDR vitamin D receptor gene DOID:9001004 Chronic Periodontitis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs731236(human) PMID:14572874|REF_RGD_ID:14402032 12107496 VDR vitamin D receptor gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:619561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:10204116|PMID:10707958|PMID:11564167|PMID:1652893|PMID:17130574|PMID:17371163|PMID:17576681|PMID:17970811|PMID:18159135|PMID:18279374|PMID:18593774|PMID:19682379|PMID:20200114|PMID:21073129|PMID:21168462|PMID:21424181|PMID:2174914|PMID:2177843|PMID:21931507|PMID:23180655|PMID:24033266|PMID:24246681|PMID:2557627|PMID:2558018|PMID:25741868|PMID:26177022|PMID:26198224|PMID:26590811|PMID:26631034|PMID:26787776|PMID:27164139|PMID:27607899|PMID:27778467|PMID:2849209|PMID:28492532|PMID:28620554|PMID:3024987|PMID:35738466|PMID:8392085|PMID:8675579|PMID:8862631|PMID:8961271|PMID:9005998|PMID:9360557|PMID:9495519|PMID:9536098 12107496 VDR vitamin D receptor gene DOID:9001738 Hypercalciuria ISO RGD:3959 D RGD:9068941 20200609 RGD protein:increased expression:kidney, small intestine PMID:19929616|REF_RGD_ID:4889914 12107496 VDR vitamin D receptor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12446453 12107496 VDR vitamin D receptor gene DOID:9002231 Fetal Growth Retardation ISO RGD:619561 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:placenta: PMID:25716068|REF_RGD_ID:11058690 12107496 VDR vitamin D receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20347977 12107496 VDR vitamin D receptor gene DOID:9002407 Spinal Fractures susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:mutations, haplotype:intron, exon: (human) PMID:12915669|REF_RGD_ID:10045836 12107496 VDR vitamin D receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:21287548|REF_RGD_ID:13210791 12107496 VDR vitamin D receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:21318047|REF_RGD_ID:8158064 12107496 VDR vitamin D receptor gene DOID:9003386 Sunburn susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs2228570 (human) PMID:19105801|REF_RGD_ID:8158067 12107496 VDR vitamin D receptor gene DOID:9004017 Chronic Hepatitis C no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:26725771|REF_RGD_ID:14401749 12107496 VDR vitamin D receptor gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:27263300|REF_RGD_ID:14401746 12107496 VDR vitamin D receptor gene DOID:9004331 Parathyroid Neoplasms susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :(rs1544410),(rs7975232),(rs731236)(human) PMID:9070272|REF_RGD_ID:13432057 12107496 VDR vitamin D receptor gene DOID:9004657 Weight Gain ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:30905785|REF_RGD_ID:14402029 12107496 VDR vitamin D receptor gene DOID:9004657 Weight Gain ISO RGD:619561 D RGD:9068941 20200609 RGD PMID:30905785|REF_RGD_ID:14402029 12107496 VDR vitamin D receptor gene DOID:9004914 Postmenopausal Osteoporosis treatment ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:exon: (rs2228570) (human) PMID:16604479|REF_RGD_ID:8158082 12107496 VDR vitamin D receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:15333467|REF_RGD_ID:8158073 12107496 VDR vitamin D receptor gene DOID:9005372 Inflammation ISO RGD:619561 D RGD:9068941 20200609 RGD associated with Respiratory Syncytial Virus Infections PMID:20008294|REF_RGD_ID:4889832 12107496 VDR vitamin D receptor gene DOID:9006359 Vitamin D Deficiency ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9525346 12107496 VDR vitamin D receptor gene DOID:9006359 Vitamin D Deficiency susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD associated with nonalcoholic fatty liver disease; DNA:SNP: :rs2228570(human) PMID:30683615|REF_RGD_ID:14401752 12107496 VDR vitamin D receptor gene DOID:9006741 Acute Hepatitis treatment ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:20523341|REF_RGD_ID:14401751 12107496 VDR vitamin D receptor gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:18266602|REF_RGD_ID:4889843 12107496 VDR vitamin D receptor gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs10735810 (human) PMID:17703412|REF_RGD_ID:4889847 12107496 VDR vitamin D receptor gene DOID:9007505 Familial Hypophosphatemic Rickets ISO RGD:619561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT PMID:10204116|PMID:10707958|PMID:11564167|PMID:1652893|PMID:17130574|PMID:17371163|PMID:17576681|PMID:17970811|PMID:18159135|PMID:18279374|PMID:18593774|PMID:19682379|PMID:20200114|PMID:21073129|PMID:21168462|PMID:21424181|PMID:2174914|PMID:2177843|PMID:21931507|PMID:23180655|PMID:24033266|PMID:24246681|PMID:2557627|PMID:2558018|PMID:25741868|PMID:26177022|PMID:26198224|PMID:26590811|PMID:26631034|PMID:26787776|PMID:27164139|PMID:27607899|PMID:27778467|PMID:2849209|PMID:28492532|PMID:28620554|PMID:3024987|PMID:35738466|PMID:8392085|PMID:8675579|PMID:8862631|PMID:8961271|PMID:9005998|PMID:9360557|PMID:9495519|PMID:9536098 12107496 VDR vitamin D receptor gene DOID:9007661 Dwarfism ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs11568820(human) PMID:24015038|REF_RGD_ID:13217415 12107496 VDR vitamin D receptor gene DOID:9007661 Dwarfism treatment ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:promoter: rs11568820(human) PMID:26400282|REF_RGD_ID:11353416 12107496 VDR vitamin D receptor gene DOID:9007692 Insulin Resistance ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:25801026|REF_RGD_ID:14402022 12107496 VDR vitamin D receptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:11484 D RGD:9068941 20200609 RGD mRNA,protein:increased expression, activity:heart: PMID:25365634|REF_RGD_ID:13432076 12107496 VDR vitamin D receptor gene DOID:9008914 Lead Poisoning ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20692022|PMID:23433214 12107496 VDR vitamin D receptor gene DOID:9008939 Breast Neoplasms ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16280049|PMID:22892281 12107496 VDR vitamin D receptor gene DOID:9065 leishmaniasis ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:17551101|REF_RGD_ID:8158083 12107496 VDR vitamin D receptor gene DOID:9206 Barrett's esophagus susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) PMID:25910066|REF_RGD_ID:11055189 12107496 VDR vitamin D receptor gene DOID:9351 diabetes mellitus no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :rs731236, rs1544410, rs7975232 (human) PMID:22856230|REF_RGD_ID:8158070 12107496 VDR vitamin D receptor gene DOID:9446 cholangitis ISO RGD:619561 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver PMID:28146070|REF_RGD_ID:14401745 12107496 VDR vitamin D receptor gene DOID:9452 fatty liver disease ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:30905785|REF_RGD_ID:14402029 12107496 VDR vitamin D receptor gene DOID:9452 fatty liver disease ISO RGD:619561 D RGD:9068941 20200609 RGD PMID:30905785|REF_RGD_ID:14402029 12107496 VDR vitamin D receptor gene DOID:987 alopecia ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:11713240|REF_RGD_ID:8157637 12107496 VDR vitamin D receptor gene DOID:987 alopecia ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1338926|PMID:22466564 12107496 VDR vitamin D receptor gene DOID:987 alopecia ISO RGD:619561 D RGD:9068941 20200609 RGD PMID:11713240|REF_RGD_ID:8157637 12107513 SFRP5 secreted frizzled related protein 5 gene DOID:630 genetic disease ISO RGD:1321235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107513 SFRP5 secreted frizzled related protein 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1321235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923031 12107513 SFRP5 secreted frizzled related protein 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1321235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18283316 12107519 SNUPN snurportin 1 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1353124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 12107519 SNUPN snurportin 1 gene DOID:1826 epilepsy ISO RGD:1353124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12107519 SNUPN snurportin 1 gene DOID:2717 Bloom syndrome ISO RGD:1353124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12107519 SNUPN snurportin 1 gene DOID:5419 schizophrenia ISO RGD:1353124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12107519 SNUPN snurportin 1 gene DOID:630 genetic disease ISO RGD:1353124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107519 SNUPN snurportin 1 gene DOID:9256 colorectal cancer ISO RGD:1353124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12107532 HIVEP1 HIVEP zinc finger 1 gene DOID:1826 epilepsy ISO RGD:736425 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12107532 HIVEP1 HIVEP zinc finger 1 gene DOID:2661 myoepithelioma ISO RGD:736425 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12107532 HIVEP1 HIVEP zinc finger 1 gene DOID:630 genetic disease ISO RGD:736425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107555 SLC4A3 solute carrier family 4 member 3 gene DOID:114 heart disease ISO RGD:733142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 12107555 SLC4A3 solute carrier family 4 member 3 gene DOID:1148 polydactyly ISO RGD:733142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 12107555 SLC4A3 solute carrier family 4 member 3 gene DOID:630 genetic disease ISO RGD:733142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107555 SLC4A3 solute carrier family 4 member 3 gene DOID:8466 retinal degeneration IAGP D RGD:12801476 20221130 OMIA Progressive retinal atrophy, SLC4A3-related PMID:21738669|PMID:22065099|PMID:36325094 12107555 SLC4A3 solute carrier family 4 member 3 gene DOID:9004002 Short QT Syndrome 7 ISO RGD:733142 D RGD:7240710 20230215 OMIM 12107555 SLC4A3 solute carrier family 4 member 3 gene DOID:9004002 Short QT Syndrome 7 ISO RGD:733142 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short QT syndrome 7 PMID:29167417 12107555 SLC4A3 solute carrier family 4 member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12107592 CYBA cytochrome b-245 alpha chain gene DOID:0050589 inflammatory bowel disease ISO RGD:734174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very early onset inflammatory bowel disease PMID:10440830|PMID:19388116|PMID:25741868|PMID:28492532|PMID:30709874|PMID:3368442|PMID:9445163 12107592 CYBA cytochrome b-245 alpha chain gene DOID:0050848 obstructive sleep apnea severity ISO RGD:734174 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:sputum, macrophage, neutrophil PMID:20367952|REF_RGD_ID:4266589 12107592 CYBA cytochrome b-245 alpha chain gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:734174 D RGD:7240710 20180130 OMIM 12107592 CYBA cytochrome b-245 alpha chain gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:734174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10440830|PMID:10759707|PMID:10910929|PMID:10914676|PMID:12073015|PMID:1415254|PMID:16199547|PMID:16937026|PMID:17576681|PMID:1763037|PMID:18422995|PMID:18546332|PMID:19292887|PMID:19388116|PMID:19949658|PMID:20167518|PMID:21190454|PMID:22336310|PMID:2243141|PMID:22562447|PMID:22876374|PMID:22924696|PMID:23002911|PMID:23910690|PMID:25741868|PMID:26185101|PMID:26915675|PMID:26936803|PMID:27537055|PMID:27701760|PMID:27980538|PMID:28341171|PMID:28492532|PMID:28941186|PMID:29454792|PMID:29560547|PMID:30470980|PMID:30709874|PMID:30716179|PMID:31364312|PMID:31375816|PMID:31456102|PMID:32040803|PMID:32081864|PMID:3368442|PMID:33717137|PMID:34547651|PMID:3571224|PMID:4384563|PMID:8168815|PMID:9445163|PMID:9536098 12107592 CYBA cytochrome b-245 alpha chain gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:734174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:28492532 12107592 CYBA cytochrome b-245 alpha chain gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:734174 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12107592 CYBA cytochrome b-245 alpha chain gene DOID:0111922 spermatogenic failure 31 ISO RGD:734174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CYBA DEFICIENCY PMID:10440830|PMID:19388116|PMID:25741868|PMID:28492532|PMID:30709874|PMID:3368442|PMID:9445163 12107592 CYBA cytochrome b-245 alpha chain gene DOID:1074 kidney failure ISO RGD:734174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23325087 12107592 CYBA cytochrome b-245 alpha chain gene DOID:10763 hypertension ISO RGD:620573 D RGD:9068941 20200609 RGD PMID:17109653|REF_RGD_ID:4775206 12107592 CYBA cytochrome b-245 alpha chain gene DOID:10763 hypertension ISO RGD:620573 D RGD:9068941 20200609 RGD protein:increased expression:kidney cortex PMID:20018820|REF_RGD_ID:2317853 12107592 CYBA cytochrome b-245 alpha chain gene DOID:10763 hypertension ISO RGD:734174 D RGD:9068941 20200609 RGD PMID:12729892|REF_RGD_ID:1580276 12107592 CYBA cytochrome b-245 alpha chain gene DOID:10763 hypertension ISO RGD:734174 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:16685210|PMID:17324946|PMID:20505675|PMID:32147540 12107592 CYBA cytochrome b-245 alpha chain gene DOID:10825 essential hypertension ISO RGD:734174 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 12107592 CYBA cytochrome b-245 alpha chain gene DOID:114 heart disease ISO RGD:734174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16330681 12107592 CYBA cytochrome b-245 alpha chain gene DOID:13406 pulmonary sarcoidosis no_association ISO RGD:734174 D RGD:9068941 20200609 RGD DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human) PMID:16608528|REF_RGD_ID:4780358 12107592 CYBA cytochrome b-245 alpha chain gene DOID:14780 KBG syndrome ISO RGD:734174 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 12107592 CYBA cytochrome b-245 alpha chain gene DOID:1936 atherosclerosis ISO RGD:734174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20720404 12107592 CYBA cytochrome b-245 alpha chain gene DOID:2841 asthma susceptibility ISO RGD:734174 D RGD:9068941 20200609 RGD DNA:SNPs: :-930A>G, 242C>T, 640A>G (human) PMID:18716406|REF_RGD_ID:4772770 12107592 CYBA cytochrome b-245 alpha chain gene DOID:2841 asthma susceptibility ISO RGD:734174 D RGD:9068941 20200609 RGD DNA:polymorphism: :-930A>G (human) PMID:19459419|REF_RGD_ID:4311041 12107592 CYBA cytochrome b-245 alpha chain gene DOID:2957 pulmonary tuberculosis no_association ISO RGD:734174 D RGD:9068941 20200609 RGD DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human) PMID:16608528|REF_RGD_ID:4780358 12107592 CYBA cytochrome b-245 alpha chain gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:734174 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.H72Y (human) PMID:19567155|REF_RGD_ID:4304108 12107592 CYBA cytochrome b-245 alpha chain gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:734174 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-930A>G, 242C>T (human) PMID:20080081|REF_RGD_ID:4293707 12107592 CYBA cytochrome b-245 alpha chain gene DOID:3262 phagocyte bactericidal dysfunction ISO RGD:734174 D RGD:9068941 20200609 RGD DNA:mutations: :multiple (human) PMID:18422995|REF_RGD_ID:4779762 12107592 CYBA cytochrome b-245 alpha chain gene DOID:3265 chronic granulomatous disease ISO RGD:734174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic granulomatous disease PMID:10440830|PMID:10759707|PMID:10910929|PMID:1415254|PMID:16199547|PMID:17576681|PMID:1763037|PMID:19292887|PMID:19388116|PMID:19949658|PMID:20167518|PMID:21190454|PMID:22336310|PMID:2243141|PMID:22876374|PMID:22924696|PMID:25741868|PMID:26185101|PMID:26936803|PMID:27537055|PMID:27701760|PMID:28341171|PMID:28492532|PMID:29454792|PMID:30709874|PMID:31456102|PMID:32040803|PMID:32081864|PMID:3368442|PMID:33717137|PMID:8168815|PMID:9445163|PMID:9536098 12107592 CYBA cytochrome b-245 alpha chain gene DOID:3393 coronary artery disease ISO RGD:734174 D RGD:9068941 20200609 RGD PMID:14709372|REF_RGD_ID:1578443 12107592 CYBA cytochrome b-245 alpha chain gene DOID:5082 liver cirrhosis ISO RGD:734174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12107592 CYBA cytochrome b-245 alpha chain gene DOID:5844 myocardial infarction ISO RGD:620573 D RGD:9068941 20200609 RGD mRNA:increase expression:ventricle myocardium: PMID:11243862|REF_RGD_ID:1599690 12107592 CYBA cytochrome b-245 alpha chain gene DOID:5844 myocardial infarction ISO RGD:620573 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium PMID:18762777|REF_RGD_ID:2317860 12107592 CYBA cytochrome b-245 alpha chain gene DOID:630 genetic disease ISO RGD:734174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12107592 CYBA cytochrome b-245 alpha chain gene DOID:6432 pulmonary hypertension ISO RGD:620573 D RGD:9068941 20200609 RGD PMID:18424632|REF_RGD_ID:4773907 12107592 CYBA cytochrome b-245 alpha chain gene DOID:6432 pulmonary hypertension ISO RGD:734175 D RGD:9068941 20200609 RGD associated with Anoxia;mRNA, protein:increased expression:lung PMID:18952568|REF_RGD_ID:4762683 12107592 CYBA cytochrome b-245 alpha chain gene DOID:783 end stage renal disease ISO RGD:620573 D RGD:9068941 20200609 RGD PMID:19420110|REF_RGD_ID:2306994 12107592 CYBA cytochrome b-245 alpha chain gene DOID:783 end stage renal disease ISO RGD:734174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 12107592 CYBA cytochrome b-245 alpha chain gene DOID:8947 diabetic retinopathy ISO RGD:620573 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19685553|REF_RGD_ID:2317854 12107592 CYBA cytochrome b-245 alpha chain gene DOID:9000039 Spinal Cord Injuries ISO RGD:620573 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:16345062|REF_RGD_ID:1599510 12107592 CYBA cytochrome b-245 alpha chain gene DOID:9000528 Coronary Disease ISO RGD:734174 D RGD:9068941 20200609 RGD PMID:10488959|REF_RGD_ID:1580275 12107592 CYBA cytochrome b-245 alpha chain gene DOID:9001371 Eosinophilia ISO RGD:620573 D RGD:9068941 20200609 RGD DNA:deletion:splice junction: PMID:19406829|REF_RGD_ID:11040542 12107592 CYBA cytochrome b-245 alpha chain gene DOID:9001371 Eosinophilia ISO RGD:620573 D RGD:9068941 20201211 RGD PMID:20660993|PMID:21512270|REF_RGD_ID:5134976|REF_RGD_ID:5134988 12107592 CYBA cytochrome b-245 alpha chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12107592 CYBA cytochrome b-245 alpha chain gene DOID:9002165 Diabetic Nephropathies ISO RGD:734174 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :242C>T (human) PMID:14747204|REF_RGD_ID:8695982 12107592 CYBA cytochrome b-245 alpha chain gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:734174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12107592 CYBA cytochrome b-245 alpha chain gene DOID:9004009 Reperfusion Injury ISO RGD:620573 D RGD:9068941 20200609 RGD PMID:15148062|REF_RGD_ID:1599683 12107592 CYBA cytochrome b-245 alpha chain gene DOID:9005369 Hepatomegaly ISO RGD:734174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12107592 CYBA cytochrome b-245 alpha chain gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620573 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta PMID:20226688|REF_RGD_ID:2317852 12107592 CYBA cytochrome b-245 alpha chain gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620573 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas: PMID:23905384|REF_RGD_ID:11040693 12107592 CYBA cytochrome b-245 alpha chain gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11812764|PMID:12967931 12107592 CYBA cytochrome b-245 alpha chain gene DOID:9006646 Metabolic Syndrome ISO RGD:620573 D RGD:9068941 20200609 RGD PMID:16741160|REF_RGD_ID:2317864 12107592 CYBA cytochrome b-245 alpha chain gene DOID:9352 type 2 diabetes mellitus ISO RGD:734174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15531508 12107592 CYBA cytochrome b-245 alpha chain gene DOID:9952 acute lymphoblastic leukemia ISO RGD:734174 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell: PMID:19222940|REF_RGD_ID:11040545 12107600 PILRA paired immunoglobin like type 2 receptor alpha gene DOID:10652 Alzheimer's disease ISO RGD:1318381 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 12107600 PILRA paired immunoglobin like type 2 receptor alpha gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12107600 PILRA paired immunoglobin like type 2 receptor alpha gene DOID:630 genetic disease ISO RGD:1318381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107615 SLC27A4 solute carrier family 27 member 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316551 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12107615 SLC27A4 solute carrier family 27 member 4 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1316551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:19631310|PMID:21450060|PMID:22927265|PMID:26783444|PMID:27025581|PMID:28492532 12107615 SLC27A4 solute carrier family 27 member 4 gene DOID:0060762 restrictive dermopathy ISO RGD:1316552 D RGD:9068941 20220825 MouseDO OMIM:275210 12107615 SLC27A4 solute carrier family 27 member 4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316551 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12107615 SLC27A4 solute carrier family 27 member 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316551 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12107615 SLC27A4 solute carrier family 27 member 4 gene DOID:630 genetic disease ISO RGD:1316551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:19631310|PMID:21450060|PMID:28492532 12107615 SLC27A4 solute carrier family 27 member 4 gene DOID:9001309 Ichthyosis Prematurity Syndrome IAGP D RGD:12801476 20211201 OMIA Ichthyosis, SLC27A4-related PMID:26506231|PMID:26242581|PMID:34796560 12107615 SLC27A4 solute carrier family 27 member 4 gene DOID:9001309 Ichthyosis Prematurity Syndrome ISO RGD:1316551 D RGD:7240710 20180130 OMIM 12107615 SLC27A4 solute carrier family 27 member 4 gene DOID:9001309 Ichthyosis Prematurity Syndrome ISO RGD:1316551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ichthyosis prematurity syndrome PMID:19631310|PMID:21450060|PMID:22927265|PMID:25741868|PMID:26783444|PMID:27025581|PMID:27081519|PMID:27224495|PMID:28492532|PMID:30536735 12107615 SLC27A4 solute carrier family 27 member 4 gene DOID:9007692 Insulin Resistance ISO RGD:1316551 D RGD:9068941 20200609 RGD mRNA:increased expression:subcutaneous adipose tissue PMID:15168018|REF_RGD_ID:1625638 12107615 SLC27A4 solute carrier family 27 member 4 gene DOID:9452 fatty liver disease ISO RGD:1307383 D RGD:9068941 20200609 RGD mRNA, protein:increased expression PMID:16248953|REF_RGD_ID:1625640 12107615 SLC27A4 solute carrier family 27 member 4 gene DOID:9970 obesity ISO RGD:1316551 D RGD:9068941 20200609 RGD mRNA:increased expression:subcutaneous adipose tissue PMID:15168018|REF_RGD_ID:1625638 12107632 SH2D3C SH2 domain containing 3C gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316391 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12107632 SH2D3C SH2 domain containing 3C gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316391 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12107632 SH2D3C SH2 domain containing 3C gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1316391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12107632 SH2D3C SH2 domain containing 3C gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1316391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 12107632 SH2D3C SH2 domain containing 3C gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316391 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12107632 SH2D3C SH2 domain containing 3C gene DOID:630 genetic disease ISO RGD:1316391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107669 ERLIN2 ER lipid raft associated 2 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1350824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 12107669 ERLIN2 ER lipid raft associated 2 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1350824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant PMID:25741868 12107669 ERLIN2 ER lipid raft associated 2 gene DOID:0110771 hereditary spastic paraplegia 18 ISO RGD:1350824 D RGD:7240710 20180130 OMIM 12107669 ERLIN2 ER lipid raft associated 2 gene DOID:0110771 hereditary spastic paraplegia 18 ISO RGD:1350824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 18 PMID:21330303|PMID:23109145|PMID:25741868 12107669 ERLIN2 ER lipid raft associated 2 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1350824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 12107669 ERLIN2 ER lipid raft associated 2 gene DOID:1059 intellectual disability ISO RGD:1350824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12107669 ERLIN2 ER lipid raft associated 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1350824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:25741868|PMID:28492532|PMID:28832565|PMID:32147972 12107669 ERLIN2 ER lipid raft associated 2 gene DOID:607 paraplegia ISO RGD:1350824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:18414213|PMID:21330303|PMID:23109145|PMID:24482476|PMID:25741868|PMID:27824013|PMID:28492532|PMID:28832565|PMID:30564185|PMID:32147972|PMID:9536098 12107669 ERLIN2 ER lipid raft associated 2 gene DOID:630 genetic disease ISO RGD:1350824 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28832565 12107669 ERLIN2 ER lipid raft associated 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1350824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12107705 COA6 cytochrome c oxidase assembly factor 6 gene DOID:0080357 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 ISO RGD:1352912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12107705 COA6 cytochrome c oxidase assembly factor 6 gene DOID:0080360 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 ISO RGD:1352912 D RGD:7240710 20180130 OMIM 12107705 COA6 cytochrome c oxidase assembly factor 6 gene DOID:0080360 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 ISO RGD:1352912 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 PMID:22277967|PMID:24549041|PMID:25339201|PMID:25741868|PMID:25959673|PMID:26160915|PMID:28492532 12107705 COA6 cytochrome c oxidase assembly factor 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1352912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12107705 COA6 cytochrome c oxidase assembly factor 6 gene DOID:630 genetic disease ISO RGD:1352912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107705 COA6 cytochrome c oxidase assembly factor 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12107715 RAB6A RAB6A, member RAS oncogene family gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1320484 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12107715 RAB6A RAB6A, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1320484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12107715 RAB6A RAB6A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1320484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107731 MAT1A methionine adenosyltransferase 1A gene DOID:0050544 hypermethioninemia ISO RGD:732753 D RGD:7240710 20180130 OMIM 12107731 MAT1A methionine adenosyltransferase 1A gene DOID:0050544 hypermethioninemia ISO RGD:732753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatic methionine adenosyltransferase deficiency | ClinVar Annotator: match by term: Hypermethioninemia PMID:10677294|PMID:11278456|PMID:1527987|PMID:15935930|PMID:16199547|PMID:1683972|PMID:17576681|PMID:18500573|PMID:20675163|PMID:23425511|PMID:23430947|PMID:24231718|PMID:24445979|PMID:25638462|PMID:25741868|PMID:26289392|PMID:26933843|PMID:28186605|PMID:28492532|PMID:28748147|PMID:30389272|PMID:31061746|PMID:32335878|PMID:32496220|PMID:3812486|PMID:4421454|PMID:7229751|PMID:7560086|PMID:7573050|PMID:8770875|PMID:9042912|PMID:9482646|PMID:9536098 12107731 MAT1A methionine adenosyltransferase 1A gene DOID:3213 demyelinating disease ISO RGD:732753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8770875 12107731 MAT1A methionine adenosyltransferase 1A gene DOID:630 genetic disease ISO RGD:732753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26933843|PMID:28492532 12107731 MAT1A methionine adenosyltransferase 1A gene DOID:684 hepatocellular carcinoma ISO RGD:732753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12060674 12107731 MAT1A methionine adenosyltransferase 1A gene DOID:9002221 Hyperplasia ISO RGD:732753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12060674 12107731 MAT1A methionine adenosyltransferase 1A gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12107731 MAT1A methionine adenosyltransferase 1A gene DOID:9252 amino acid metabolic disorder ISO RGD:732753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7560086|PMID:8770875 12107731 MAT1A methionine adenosyltransferase 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:732753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23665415 12107731 MAT1A methionine adenosyltransferase 1A gene DOID:936 brain disease ISO RGD:732753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8770875 12107731 MAT1A methionine adenosyltransferase 1A gene DOID:9452 fatty liver disease ISO RGD:732753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12060674 12107744 CD226 CD226 molecule gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1323011 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12107744 CD226 CD226 molecule gene DOID:289 endometriosis ISO RGD:1323011 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12107744 CD226 CD226 molecule gene DOID:630 genetic disease ISO RGD:1323011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107744 CD226 CD226 molecule gene DOID:6420 pulmonary valve stenosis ISO RGD:1323011 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12107744 CD226 CD226 molecule gene DOID:8445 intestinal volvulus ISO RGD:1323011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12107744 CD226 CD226 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:1323011 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12107744 CD226 CD226 molecule gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1323011 D RGD:9068941 20201118 RGD PMID:21695691|REF_RGD_ID:40818295 12107744 CD226 CD226 molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12107744 CD226 CD226 molecule gene DOID:9008419 Volvulus Of Midgut ISO RGD:1323011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12107744 CD226 CD226 molecule gene DOID:9008443 Colorectal Neoplasms ISO RGD:1323011 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16015041 12107744 CD226 CD226 molecule gene DOID:9074 systemic lupus erythematosus ISO RGD:1323011 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 12107766 POLR1F RNA polymerase I subunit F gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12107774 LOC611771 protein FAM209B gene DOID:630 genetic disease ISO RGD:1342812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107780 TMEM234 transmembrane protein 234 gene DOID:630 genetic disease ISO RGD:1606787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107795 UBOX5 U-box domain containing 5 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1605087 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12107795 UBOX5 U-box domain containing 5 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1605087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12107795 UBOX5 U-box domain containing 5 gene DOID:630 genetic disease ISO RGD:1605087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107795 UBOX5 U-box domain containing 5 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1605087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 12107820 OR6C1L olfactory receptor family 6 subfamily C member 1L gene DOID:4990 essential tremor ISO RGD:1342545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 12107820 OR6C1L olfactory receptor family 6 subfamily C member 1L gene DOID:630 genetic disease ISO RGD:1342545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107823 LOC100856782 T-complex protein 1 subunit eta gene DOID:0050473 Alstrom syndrome ISO RGD:1315027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 12107823 LOC100856782 T-complex protein 1 subunit eta gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1315027 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12107823 LOC100856782 T-complex protein 1 subunit eta gene DOID:12556 acute kidney tubular necrosis ISO RGD:1315027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31825490 12107823 LOC100856782 T-complex protein 1 subunit eta gene DOID:3021 acute kidney failure ISO RGD:1315027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31825490 12107823 LOC100856782 T-complex protein 1 subunit eta gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1315027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12107823 LOC100856782 T-complex protein 1 subunit eta gene DOID:543 dystonia ISO RGD:1315027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12107823 LOC100856782 T-complex protein 1 subunit eta gene DOID:5844 myocardial infarction ISO RGD:1315027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1 PMID:24213632 12107823 LOC100856782 T-complex protein 1 subunit eta gene DOID:630 genetic disease ISO RGD:1315027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107823 LOC100856782 T-complex protein 1 subunit eta gene DOID:9000217 Stomach Neoplasms ISO RGD:1315027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12107823 LOC100856782 T-complex protein 1 subunit eta gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1315027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12107823 LOC100856782 T-complex protein 1 subunit eta gene DOID:9000918 Disease Progression ISO RGD:1315027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12107850 LENG9 leukocyte receptor cluster member 9 gene DOID:2661 myoepithelioma ISO RGD:1317999 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12107850 LENG9 leukocyte receptor cluster member 9 gene DOID:630 genetic disease ISO RGD:1317999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107905 STIM2 stromal interaction molecule 2 gene DOID:630 genetic disease ISO RGD:1312198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12107905 STIM2 stromal interaction molecule 2 gene DOID:9004657 Weight Gain ISO RGD:1312198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12107928 TRIOBP TRIO and F-actin binding protein gene DOID:0050563 nonsyndromic deafness ISO RGD:1605399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:24033266 12107928 TRIOBP TRIO and F-actin binding protein gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1605399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 12107928 TRIOBP TRIO and F-actin binding protein gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1605399 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12107928 TRIOBP TRIO and F-actin binding protein gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1605399 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12107928 TRIOBP TRIO and F-actin binding protein gene DOID:0110486 autosomal recessive nonsyndromic deafness 28 ISO RGD:1605399 D RGD:7240710 20180130 OMIM 12107928 TRIOBP TRIO and F-actin binding protein gene DOID:0110486 autosomal recessive nonsyndromic deafness 28 ISO RGD:1605399 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 28 PMID:16385457|PMID:16385458|PMID:20510926|PMID:23967202|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26872740|PMID:26969326|PMID:27014650|PMID:27068579|PMID:28000701|PMID:28089734|PMID:28492532|PMID:29197352|PMID:30303587|PMID:30311386|PMID:31178897|PMID:35802133|PMID:36633841 12107928 TRIOBP TRIO and F-actin binding protein gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1605399 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12107928 TRIOBP TRIO and F-actin binding protein gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1605399 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12107928 TRIOBP TRIO and F-actin binding protein gene DOID:630 genetic disease ISO RGD:1605399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 12107928 TRIOBP TRIO and F-actin binding protein gene DOID:9004538 Hearing Loss ISO RGD:1605399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:25741868|PMID:28000701|PMID:28089734|PMID:28492532|PMID:29197352|PMID:30311386 12107928 TRIOBP TRIO and F-actin binding protein gene DOID:9004538 Hearing Loss ISO RGD:1605399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:16385457|PMID:16385458|PMID:20510926|PMID:24033266|PMID:25741868|PMID:28000701|PMID:28089734|PMID:28492532|PMID:29197352|PMID:30311386 12107928 TRIOBP TRIO and F-actin binding protein gene DOID:9008681 Deafness ISO RGD:1605399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12107955 KREMEN1 kringle containing transmembrane protein 1 gene DOID:0111252 neurofibromatosis 2 ISO RGD:733267 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 12107955 KREMEN1 kringle containing transmembrane protein 1 gene DOID:0111650 ectodermal dysplasia 13 ISO RGD:733267 D RGD:7240710 20190315 OMIM 12107955 KREMEN1 kringle containing transmembrane protein 1 gene DOID:0111650 ectodermal dysplasia 13 ISO RGD:733267 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 13, hair/tooth type PMID:25741868|PMID:27049303|PMID:28492532 12107955 KREMEN1 kringle containing transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:733267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12107955 KREMEN1 kringle containing transmembrane protein 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:733267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 12107981 WRN WRN RecQ like helicase gene DOID:0050902 medulloblastoma ISO RGD:1318280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:16673358|PMID:16786514|PMID:20301687|PMID:24033266|PMID:25182132|PMID:25390333|PMID:25741868|PMID:27667302|PMID:28492532|PMID:8968742|PMID:9225981 12107981 WRN WRN RecQ like helicase gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1318280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:20443122|PMID:25741868|PMID:28492532 12107981 WRN WRN RecQ like helicase gene DOID:11162 respiratory failure ISO RGD:1318280 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Progressive pulmonary failure PMID:11863428|PMID:36214313 12107981 WRN WRN RecQ like helicase gene DOID:1580 diffuse scleroderma ISO RGD:1318280 D RGD:9068941 20200609 RGD PMID:16906373|REF_RGD_ID:10042980 12107981 WRN WRN RecQ like helicase gene DOID:1612 breast cancer ISO RGD:1318280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10069711|PMID:10220139|PMID:16786514|PMID:24728327|PMID:25741868|PMID:28492532 12107981 WRN WRN RecQ like helicase gene DOID:2394 ovarian cancer ISO RGD:1318280 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:15609317|PMID:24728327|PMID:25637295|PMID:25741868|PMID:28492532 12107981 WRN WRN RecQ like helicase gene DOID:3393 coronary artery disease ISO RGD:1318280 D RGD:9068941 20200609 RGD PMID:11186893|REF_RGD_ID:1580824 12107981 WRN WRN RecQ like helicase gene DOID:397 restrictive cardiomyopathy ISO RGD:1318280 D RGD:9068941 20200609 RGD PMID:15916825|REF_RGD_ID:1580820 12107981 WRN WRN RecQ like helicase gene DOID:5688 Werner syndrome ISO RGD:1318280 D RGD:7240710 20180130 OMIM 12107981 WRN WRN RecQ like helicase gene DOID:5688 Werner syndrome ISO RGD:1318280 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Werner syndrome PMID:10069711|PMID:10189141|PMID:10220139|PMID:10347997|PMID:10543396|PMID:10628995|PMID:10811130|PMID:12244128|PMID:12827497|PMID:15355988|PMID:15489508|PMID:15609317|PMID:15888165|PMID:16199547|PMID:16673358|PMID:16786514|PMID:17478382|PMID:17576681|PMID:18205852|PMID:18414213|PMID:18810497|PMID:19763152|PMID:19824023|PMID:20157511|PMID:20301687|PMID:20307669|PMID:20443122|PMID:20657174|PMID:20802463|PMID:20855428|PMID:21389352|PMID:22188495|PMID:22406018|PMID:23045531|PMID:23583337|PMID:23849162|PMID:23936869|PMID:24033266|PMID:24429382|PMID:24728327|PMID:25018888|PMID:25059010|PMID:25182132|PMID:25390333|PMID:25619955|PMID:25637295|PMID:25741868|PMID:26296701|PMID:26344056|PMID:26546047|PMID:26689913|PMID:26695548|PMID:26901136|PMID:27084275|PMID:27153395|PMID:27559010|PMID:27667302|PMID:28202063|PMID:28276523|PMID:28492532|PMID:28795391|PMID:28861129|PMID:29753700|PMID:30140198|PMID:30891318|PMID:32041611|PMID:32359129|PMID:36292687|PMID:8037212|PMID:8602509|PMID:8968742|PMID:9012406|PMID:9048918|PMID:9225981|PMID:9241267|PMID:9450180|PMID:9536098 12107981 WRN WRN RecQ like helicase gene DOID:5844 myocardial infarction ISO RGD:1318280 D RGD:9068941 20200609 RGD PMID:9021029|REF_RGD_ID:1580821 12107981 WRN WRN RecQ like helicase gene DOID:630 genetic disease ISO RGD:1318280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24728327|PMID:25741868|PMID:28492532 12107981 WRN WRN RecQ like helicase gene DOID:9002644 Premature Aging ISO RGD:1318280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21267443 12107981 WRN WRN RecQ like helicase gene DOID:9008840 DNA Repair-Deficiency Disorders ISO RGD:1318280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29616805 12107981 WRN WRN RecQ like helicase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1318280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:20443122|PMID:25741868|PMID:28492532 12107981 WRN WRN RecQ like helicase gene DOID:9669 senile cataract no_association ISO RGD:1318280 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C1367R (rs1346044) (human) PMID:20808731|REF_RGD_ID:10042985 12107981 WRN WRN RecQ like helicase gene DOID:9669 senile cataract susceptibility ISO RGD:1318280 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C1367R (rs1346044) (human) PMID:23334603|REF_RGD_ID:10042984 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:0050589 inflammatory bowel disease ISO RGD:1346662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:0080097 myofibrillar myopathy 6 ISO RGD:1346662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 6 PMID:25741868|PMID:28492532 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:0080176 meningococcal meningitis ISO RGD:1346662 D RGD:9068941 20200609 RGD PMID:12869763|REF_RGD_ID:6483466 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 PMID:10528197|PMID:14566051|PMID:14615110|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:20059470|PMID:20513133|PMID:21706448|PMID:23431077|PMID:23731345|PMID:23780777|PMID:24033266|PMID:24161037|PMID:24247905|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:29500241|PMID:29566171|PMID:30609409|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346662 D RGD:8554872 20220621 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 PMID:14566051|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:20059470|PMID:20513133|PMID:21706448|PMID:23431077|PMID:23731345|PMID:23780777|PMID:24033266|PMID:24161037|PMID:24247905|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29566171|PMID:30305631|PMID:30609409|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346662 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 PMID:11414356|PMID:14566051|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:19376828|PMID:20059470|PMID:20513133|PMID:21706448|PMID:23431077|PMID:23731345|PMID:23780777|PMID:24005975|PMID:24033266|PMID:24161037|PMID:24247905|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29566171|PMID:30305631|PMID:30609409|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346662 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 PMID:14566051|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:20059470|PMID:20513133|PMID:21706448|PMID:23431077|PMID:23519521|PMID:23731345|PMID:23780777|PMID:24033266|PMID:24161037|PMID:24247905|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29566171|PMID:30046676|PMID:30305631|PMID:30609409|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 PMID:14566051|PMID:16199547|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:19376828|PMID:20059470|PMID:20513133|PMID:21706448|PMID:21810760|PMID:23314101|PMID:23431077|PMID:23519521|PMID:23731345|PMID:23780777|PMID:24005975|PMID:24029428|PMID:24033266|PMID:24161037|PMID:24247905|PMID:2431077|PMID:24460647|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29566171|PMID:29644059|PMID:30046676|PMID:30305631|PMID:30609409|PMID:30676336|PMID:33213850|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:0080301 atypical hemolytic-uremic syndrome severity ISO RGD:1346662 D RGD:9068941 20200609 RGD DNA:mutations:cds:multiple (human) PMID:20595690|REF_RGD_ID:11038684 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:0080301 atypical hemolytic-uremic syndrome susceptibility ISO RGD:1346662 D RGD:7240710 20190502 OMIM 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1346662 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30185663 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1346662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:10591 pre-eclampsia no_association ISO RGD:1346662 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A304V (human) PMID:25710174|REF_RGD_ID:11352807 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:10591 pre-eclampsia susceptibility ISO RGD:1346662 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A304V (human) PMID:21445332|REF_RGD_ID:6483459 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1346662 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.N233X3 (human) PMID:14615110|REF_RGD_ID:11352767 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1346662 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:16189652|REF_RGD_ID:11531138 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:12554 hemolytic-uremic syndrome susceptibility ISO RGD:1346662 D RGD:9068941 20200609 RGD DNA:deletion, missense mutation:cds:p.D237_S238del, p.S206P (human) PMID:14566051|REF_RGD_ID:11352770 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:12849 autistic disorder ISO RGD:1346662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:1540 parathyroid carcinoma ISO RGD:1346662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:2377 multiple sclerosis ISO RGD:1346662 D RGD:9068941 20200609 RGD PMID:21177319|REF_RGD_ID:6483460 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:2452 thrombophilia ISO RGD:1346662 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:placenta (human) PMID:23042280|REF_RGD_ID:11352772 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:2773 contact dermatitis ISO RGD:1346662 D RGD:9068941 20200609 RGD PMID:12055630|REF_RGD_ID:6483467 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:3459 breast carcinoma ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:increased expression:very strong diffuse staining on carcinomas PMID:7532466|REF_RGD_ID:2293551 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:3459 breast carcinoma disease_progression ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:increased expression:tumor:significant association with tumor grade (p < 0.05), type (p < 0.001) and incidence of recurrence (p < 0.05) PMID:15378282|REF_RGD_ID:2293547 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:4450 renal cell carcinoma ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:expression associated with presence of complement C3d on tumor cells (p<0.02) and with tumor stage (p<0.04) PMID:10744069|REF_RGD_ID:2293550 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:557 kidney disease ISO RGD:1346662 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:589 congenital hemolytic anemia ISO RGD:1346662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:630 genetic disease ISO RGD:1346662 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:8622 measles ISO RGD:1346662 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8402913 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:9358772|REF_RGD_ID:2293549 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:1346662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombotic microangiopathy PMID:16199547|PMID:16621965|PMID:16762990|PMID:23431077|PMID:23519521|PMID:25741868|PMID:26559391|PMID:28492532|PMID:28752844|PMID:30046676|PMID:30676336 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:9002457 Experimental Arthritis ISO RGD:1346662 D RGD:9068941 20200609 RGD PMID:21852528|REF_RGD_ID:6483461 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:9002762 Ovarian Neoplasms ISO RGD:1346662 D RGD:9068941 20200609 RGD PMID:12183422|PMID:15726105|REF_RGD_ID:2306066|REF_RGD_ID:2306067 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1346662 D RGD:9068941 20200609 RGD PMID:17214367|REF_RGD_ID:2306065 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:9002834 Herpesviridae Infections ISO RGD:1346662 D RGD:9068941 20200609 RGD associated with Multiple Sclerosis PMID:19456309|REF_RGD_ID:6483463 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:9002884 Emphysema ISO RGD:1346662 D RGD:9068941 20200609 RGD PMID:21573156|REF_RGD_ID:6483458 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:increased expression, altered expression pattern:tumor:intense uniform staining of tumor cells vs heterogeneous staining of normal tissue and premalignant lesions PMID:9358772|REF_RGD_ID:2293549 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:9003505 Venous Thromboembolism severity ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:25684211|REF_RGD_ID:11352815 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1346662 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:9007715 Endometrial Neoplasms ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:increased expression:tumor:versus benign endometrium (p<0.0001) PMID:10637067|REF_RGD_ID:2293548 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1346662 D RGD:9068941 20200609 RGD mRNA:increased expression:leukocyte (human) PMID:22247341|REF_RGD_ID:6483457 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:934 viral infectious disease ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:increased expression:monocyte (human) PMID:23376460|REF_RGD_ID:11352813 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:9470 bacterial meningitis ISO RGD:1346662 D RGD:9068941 20200609 RGD PMID:16948860|REF_RGD_ID:6483465 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:9538 multiple myeloma ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:increased expression:plasma cell (human) PMID:16728275|REF_RGD_ID:11352814 12108033 LOC609365 CD46 molecule, complement regulatory protein-like gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood mononuclear cell (human) PMID:16353080|REF_RGD_ID:11352810 12108067 NXN nucleoredoxin gene DOID:630 genetic disease ISO RGD:1321419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12108067 NXN nucleoredoxin gene DOID:9007716 Autosomal Recessive Robinow Syndrome 2 ISO RGD:1321419 D RGD:7240710 20190904 OMIM 12108067 NXN nucleoredoxin gene DOID:9007716 Autosomal Recessive Robinow Syndrome 2 ISO RGD:1321419 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive 2 PMID:25741868|PMID:28492532|PMID:29276006 12108067 NXN nucleoredoxin gene DOID:9008443 Colorectal Neoplasms ISO RGD:1321419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 12108095 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313416 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12108095 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1313416 D RGD:9068941 20220818 RGD human cells in mouse model PMID:30453282|REF_RGD_ID:153323337 12108095 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:630 genetic disease ISO RGD:1313416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12108095 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1313416 D RGD:9068941 20220818 RGD protein:increased expression:blood serum (human) PMID:24892551|REF_RGD_ID:153323333 12108095 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1313417 D RGD:9068941 20220818 RGD protein:increased expression:blood serum (mouse) PMID:24892551|REF_RGD_ID:153323333 12108095 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1313416 D RGD:9068941 20220818 RGD human cells in mouse model PMID:21394108|REF_RGD_ID:153323335 12108095 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313416 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30453282 12108095 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:9002170 Experimental Neoplasms ISO RGD:1313416 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30453282 12108095 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:9003690 Carcinoma, Lewis Lung ISO RGD:1313416 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30453282 12108095 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12108095 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1313416 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30453282 12108095 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313416 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12108103 SLC4A1AP solute carrier family 4 member 1 adaptor protein gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1316058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12108103 SLC4A1AP solute carrier family 4 member 1 adaptor protein gene DOID:630 genetic disease ISO RGD:1316058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12108127 MARCO macrophage receptor with collagenous structure gene DOID:0040084 Streptococcus pneumonia exacerbates ISO RGD:1558468 D RGD:9068941 20210226 RGD PMID:15263032|REF_RGD_ID:41412189 12108127 MARCO macrophage receptor with collagenous structure gene DOID:0080176 meningococcal meningitis ISO RGD:1589662 D RGD:9068941 20210226 RGD protein:increased expression:sub-cortical, meninges, astrocyte PMID:21299846|REF_RGD_ID:41412190 12108127 MARCO macrophage receptor with collagenous structure gene DOID:0080600 COVID-19 ISO RGD:1349062 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12108127 MARCO macrophage receptor with collagenous structure gene DOID:10325 silicosis treatment ISO RGD:1589662 D RGD:9068941 20210226 RGD PMID:30391304|REF_RGD_ID:41412200 12108127 MARCO macrophage receptor with collagenous structure gene DOID:12053 cryptococcosis disease_progression ISO RGD:1558468 D RGD:9068941 20210226 RGD PMID:28298522|REF_RGD_ID:41412191 12108127 MARCO macrophage receptor with collagenous structure gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1349062 D RGD:9068941 20210226 RGD DNA:SNP: :rs12998782(human) PMID:28693442|REF_RGD_ID:41412192 12108127 MARCO macrophage receptor with collagenous structure gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1349062 D RGD:9068941 20210226 RGD DNA:SNPs: :rs2278589, rs6751745,rs6748401 (human) PMID:27853145|REF_RGD_ID:41412194 12108127 MARCO macrophage receptor with collagenous structure gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1349062 D RGD:9068941 20210226 RGD DNA:SNPs:introns:rs4491733,rs12998782,rs13389814,rs7559955 (human) PMID:23617307|REF_RGD_ID:41412195 12108127 MARCO macrophage receptor with collagenous structure gene DOID:630 genetic disease ISO RGD:1349062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12108127 MARCO macrophage receptor with collagenous structure gene DOID:684 hepatocellular carcinoma ISO RGD:1349062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12108127 MARCO macrophage receptor with collagenous structure gene DOID:9000113 Pneumococcal Meningitis ISO RGD:1589662 D RGD:9068941 20210226 RGD protein:increased expression:meninges, astrocyte PMID:21299846|REF_RGD_ID:41412190 12108127 MARCO macrophage receptor with collagenous structure gene DOID:9000371 influenza A ameliorates ISO RGD:1558468 D RGD:9068941 20210226 RGD PMID:21562316|REF_RGD_ID:41412197 12108127 MARCO macrophage receptor with collagenous structure gene DOID:9006732 Clostridium Infections exacerbates ISO RGD:1558468 D RGD:9068941 20210226 RGD PMID:20810988|REF_RGD_ID:41412193 12108127 MARCO macrophage receptor with collagenous structure gene DOID:9008559 Bacterial Lung Diseases disease_progression ISO RGD:1558468 D RGD:9068941 20210226 RGD association with Cryptococcal neoformans infection. PMID:28298522|REF_RGD_ID:41412191 12108127 MARCO macrophage receptor with collagenous structure gene DOID:9351 diabetes mellitus ISO RGD:1558468 D RGD:9068941 20210226 RGD protein:decreased expression:Alveolar macrophage PMID:27630197|REF_RGD_ID:41412199 12108146 CDK20 cyclin dependent kinase 20 gene DOID:1184 nephrotic syndrome ISO RGD:1313116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:29127259 12108146 CDK20 cyclin dependent kinase 20 gene DOID:1574 alcohol use disorder ISO RGD:1313116 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 12108146 CDK20 cyclin dependent kinase 20 gene DOID:1826 epilepsy ISO RGD:1313116 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12108146 CDK20 cyclin dependent kinase 20 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12108146 CDK20 cyclin dependent kinase 20 gene DOID:630 genetic disease ISO RGD:1313116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12108146 CDK20 cyclin dependent kinase 20 gene DOID:9008086 Developmental Disabilities ISO RGD:1313116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:29127259 12108187 TYROBP transmembrane immune signaling adaptor TYROBP gene DOID:0090112 Nasu-Hakola disease ISO RGD:1351113 D RGD:7240710 20180130 OMIM 12108187 TYROBP transmembrane immune signaling adaptor TYROBP gene DOID:0090112 Nasu-Hakola disease ISO RGD:1351113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 PMID:10888890|PMID:11109371|PMID:12370476|PMID:15883308|PMID:17125796|PMID:20500450|PMID:22082900|PMID:25741868|PMID:27658901|PMID:28492532|PMID:28620717|PMID:31996268 12108187 TYROBP transmembrane immune signaling adaptor TYROBP gene DOID:0110222 Brugada syndrome 5 ISO RGD:1351113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12108187 TYROBP transmembrane immune signaling adaptor TYROBP gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1351113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12108187 TYROBP transmembrane immune signaling adaptor TYROBP gene DOID:409 liver disease ISO RGD:1351113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12651611 12108187 TYROBP transmembrane immune signaling adaptor TYROBP gene DOID:630 genetic disease ISO RGD:1351113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12108187 TYROBP transmembrane immune signaling adaptor TYROBP gene DOID:7148 rheumatoid arthritis treatment ISO RGD:1303081 D RGD:9068941 20210604 RGD PMID:27049384|REF_RGD_ID:127229930 12108187 TYROBP transmembrane immune signaling adaptor TYROBP gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12108187 TYROBP transmembrane immune signaling adaptor TYROBP gene DOID:9008023 Memory Disorders ISO RGD:1351113 D RGD:8554872 20230103 ClinVar ClinVar Annotator: match by term: Memory impairment PMID:25741868 12108200 UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 gene DOID:0050700 cardiomyopathy ISO RGD:1350936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:31883641 12108200 UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 gene DOID:14701 propionic acidemia ISO RGD:1350936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:31883641 12108200 UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 gene DOID:3650 lactic acidosis ISO RGD:1350936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lactic acidosis PMID:31883641 12108200 UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 gene DOID:630 genetic disease ISO RGD:1350936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12108200 UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:1557988 D RGD:9068941 20220825 MouseDO 12108200 UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 gene DOID:9000693 Mitochondrial Complex III Deficiency Nuclear Type 10 ISO RGD:1350936 D RGD:7240710 20200226 OMIM 12108200 UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 gene DOID:9000693 Mitochondrial Complex III Deficiency Nuclear Type 10 ISO RGD:1350936 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 PMID:25741868|PMID:31883641 12108200 UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 gene DOID:9007090 Experimental Seizures ISO RGD:628838 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:15730530|REF_RGD_ID:2303356 12108200 UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1350936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:10459 common cold ISO RGD:736460 D RGD:9068941 20200609 RGD protein:increased expression:bronchus PMID:11865407|REF_RGD_ID:4890421 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:1612 breast cancer ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:polymorphism:g.-4800A>G (human) PMID:18843019|REF_RGD_ID:2313902 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:1936 atherosclerosis ISO RGD:736460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16698924 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:1969 cerebral palsy ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:SNP(human) PMID:18977990|REF_RGD_ID:2313892 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:2349 arteriosclerosis ISO RGD:736460 D RGD:9068941 20200609 RGD mRNA:increased expression:atherosclerotic lesions (human) PMID:18258817|REF_RGD_ID:2313905 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:2349 arteriosclerosis ISO RGD:736461 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta, adipose tissue (mouse) PMID:17379835|REF_RGD_ID:2313913 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:repeat:promoter:-169(A)21 (human) PMID:10527888|REF_RGD_ID:5147466 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma ISO RGD:736460 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, leukocyte PMID:9642160|REF_RGD_ID:5147467 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma ISO RGD:736461 D RGD:9068941 20200609 RGD PMID:8879219|REF_RGD_ID:5147462 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma ISO RGD:736461 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11035107|REF_RGD_ID:4890422 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma no_association ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter (human) PMID:20128419|REF_RGD_ID:4890407 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma no_association ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:polymorphisms:intron:IVS2+12C>A, IVS2+105T>C (human) PMID:15784112|REF_RGD_ID:5147464 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma no_association ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:substitution, repeat:promoter:-336G>A, -169(A)19-23 (human) PMID:12911785|REF_RGD_ID:5147465 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma susceptibility ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:SNP: :rs10507391 (human) PMID:20067482|REF_RGD_ID:4890405 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma susceptibility ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:18547289|REF_RGD_ID:4890409 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:2921 glomerulonephritis onset ISO RGD:2097 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus, endothelial cell, cytoplasm (rat) PMID:14733414|REF_RGD_ID:2313931 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:3393 coronary artery disease ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:19596330|REF_RGD_ID:2313883 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:3454 brain infarction ISO RGD:736460 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X; DNA:polymorphism:g.162A>C rs4769055 (human) PMID:18506375|REF_RGD_ID:2311309 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:3526 cerebral infarction susceptibility ISO RGD:736460 D RGD:7240710 20230505 OMIM 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:3602 toxic encephalopathy ISO RGD:736460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:409 liver disease ISO RGD:736460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:557 kidney disease ISO RGD:736460 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:g.8733T>C (rs3803278) (human) PMID:19288030|REF_RGD_ID:2313888 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:576 proteinuria ISO RGD:736460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12649539 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:5844 myocardial infarction ISO RGD:736460 D RGD:9068941 20200609 RGD PMID:14770184|REF_RGD_ID:1578317 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:5844 myocardial infarction no_association ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:19046748|REF_RGD_ID:2313891 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:630 genetic disease ISO RGD:736460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:6432 pulmonary hypertension ISO RGD:2097 D RGD:9068941 20200609 RGD PMID:8647941|REF_RGD_ID:734558 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:6432 pulmonary hypertension ISO RGD:736460 D RGD:9068941 20200609 RGD protein:increased expression:artery PMID:9445303|REF_RGD_ID:1626154 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:769 neuroblastoma ISO RGD:736460 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:neuroblastoma (human) PMID:18591367|REF_RGD_ID:2313903 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:736460 D RGD:9068941 20200609 RGD protein:increased expression:nasal turbinate PMID:19364335|REF_RGD_ID:5147461 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2097 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland tumor (rat) PMID:18959458|REF_RGD_ID:2313895 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:9005372 Inflammation ISO RGD:2097 D RGD:9068941 20200609 RGD PMID:19749079|REF_RGD_ID:5147469 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:9005372 Inflammation ISO RGD:736461 D RGD:9068941 20200609 RGD PMID:19749079|REF_RGD_ID:5147469 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:9007096 Stroke ISO RGD:2097 D RGD:9068941 20200609 RGD mRNA:increased expression:leukocyte (rat) PMID:17922411|REF_RGD_ID:2313907 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:9007096 Stroke ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:polymorphism: :2354T>A (human) PMID:19373490|REF_RGD_ID:2313886 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:9007480 Hyperoxia ISO RGD:2097 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:12490039|REF_RGD_ID:4890420 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:9970 obesity ISO RGD:736460 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:19596146|REF_RGD_ID:2313884 12108206 ALOX5AP arachidonate 5-lipoxygenase activating protein gene DOID:9970 obesity ISO RGD:736461 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue (mouse) PMID:17379835|REF_RGD_ID:2313913 12108225 VPS29 VPS29 retromer complex component gene DOID:630 genetic disease ISO RGD:1318040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12108235 LIPJ lipase family member J gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1603579 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9286463|PMID:9467011 12108235 LIPJ lipase family member J gene DOID:630 genetic disease ISO RGD:1603579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12108235 LIPJ lipase family member J gene DOID:783 end stage renal disease ISO RGD:1603579 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Stage 5 chronic kidney disease PMID:28492532 12108256 CMAS cytidine monophosphate N-acetylneuraminic acid synthetase gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1322089 D RGD:9068941 20220825 MouseDO 12108256 CMAS cytidine monophosphate N-acetylneuraminic acid synthetase gene DOID:630 genetic disease ISO RGD:1322088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12108268 TCEA3 transcription elongation factor A3 gene DOID:630 genetic disease ISO RGD:1322790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12108268 TCEA3 transcription elongation factor A3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1322790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12108283 SPIDR scaffold protein involved in DNA repair gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1603315 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 12108283 SPIDR scaffold protein involved in DNA repair gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 12108283 SPIDR scaffold protein involved in DNA repair gene DOID:630 genetic disease ISO RGD:1603315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12108283 SPIDR scaffold protein involved in DNA repair gene DOID:9000760 Ovarian Dysgenesis 9 ISO RGD:1603315 D RGD:7240710 20211222 OMIM 12108283 SPIDR scaffold protein involved in DNA repair gene DOID:9000760 Ovarian Dysgenesis 9 ISO RGD:1603315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 9 PMID:27967308|PMID:34697795 12108323 TRRAP transformation/transcription domain associated protein gene DOID:0111455 GRACILE syndrome ISO RGD:1313479 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GRACILE syndrome PMID:25741868 12108323 TRRAP transformation/transcription domain associated protein gene DOID:0112166 autosomal dominant nonsyndromic deafness 75 ISO RGD:1313479 D RGD:7240710 20200226 OMIM 12108323 TRRAP transformation/transcription domain associated protein gene DOID:0112166 autosomal dominant nonsyndromic deafness 75 ISO RGD:1313479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 75 PMID:25741868|PMID:28492532|PMID:31231791 12108323 TRRAP transformation/transcription domain associated protein gene DOID:10283 prostate cancer ISO RGD:1313479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12108323 TRRAP transformation/transcription domain associated protein gene DOID:12849 autistic disorder ISO RGD:1313479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12108323 TRRAP transformation/transcription domain associated protein gene DOID:1909 melanoma ISO RGD:1313479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 12108323 TRRAP transformation/transcription domain associated protein gene DOID:3307 teratoma ISO RGD:1313479 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 12108323 TRRAP transformation/transcription domain associated protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12108323 TRRAP transformation/transcription domain associated protein gene DOID:5419 schizophrenia ISO RGD:1313479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266|PMID:23042115 12108323 TRRAP transformation/transcription domain associated protein gene DOID:630 genetic disease ISO RGD:1313479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30827496 12108323 TRRAP transformation/transcription domain associated protein gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1313479 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 PMID:25741868 12108323 TRRAP transformation/transcription domain associated protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12108323 TRRAP transformation/transcription domain associated protein gene DOID:9008086 Developmental Disabilities ISO RGD:1313479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741898 12108323 TRRAP transformation/transcription domain associated protein gene DOID:9008582 Developmental Disease ISO RGD:1313479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12108323 TRRAP transformation/transcription domain associated protein gene DOID:9009182 Developmental Delay with or without Dysmorphic Facies and Autism ISO RGD:1313479 D RGD:7240710 20190911 OMIM 12108323 TRRAP transformation/transcription domain associated protein gene DOID:9009182 Developmental Delay with or without Dysmorphic Facies and Autism ISO RGD:1313479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with or without dysmorphic facies and autism | ClinVar Annotator: match by term: TRRAP-Related Disorder PMID:25741868|PMID:28492532|PMID:30424743|PMID:30827496 12108425 RUSC2 RUN and SH3 domain containing 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1351272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12108425 RUSC2 RUN and SH3 domain containing 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1351272 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12108425 RUSC2 RUN and SH3 domain containing 2 gene DOID:0080239 autosomal recessive intellectual developmental disorder 61 ISO RGD:1351272 D RGD:7240710 20190315 OMIM 12108425 RUSC2 RUN and SH3 domain containing 2 gene DOID:0080239 autosomal recessive intellectual developmental disorder 61 ISO RGD:1351272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALWADEI SYNDROME | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 61 PMID:25741868|PMID:27612186|PMID:28492532 12108425 RUSC2 RUN and SH3 domain containing 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:1351272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12108425 RUSC2 RUN and SH3 domain containing 2 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1351272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12108425 RUSC2 RUN and SH3 domain containing 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1351272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12108425 RUSC2 RUN and SH3 domain containing 2 gene DOID:630 genetic disease ISO RGD:1351272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12108425 RUSC2 RUN and SH3 domain containing 2 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1351272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12108425 RUSC2 RUN and SH3 domain containing 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12108425 RUSC2 RUN and SH3 domain containing 2 gene DOID:9870 galactosemia ISO RGD:1351272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12108451 NEU1 neuraminidase 1 gene DOID:0050553 JMP syndrome ISO RGD:735984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12108451 NEU1 neuraminidase 1 gene DOID:3343 glycoproteinosis ISO RGD:735984 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Sialidosis PMID:10767332|PMID:10944856|PMID:11063730|PMID:11470272|PMID:11702224|PMID:11829139|PMID:14517945|PMID:14695530|PMID:15908988|PMID:16538002|PMID:16712870|PMID:17576681|PMID:18343720|PMID:19415310|PMID:21214877|PMID:24808020|PMID:25153125|PMID:25401298|PMID:25741868|PMID:28492532|PMID:30941624|PMID:32453490|PMID:32472645|PMID:32485644|PMID:32752208|PMID:33502066|PMID:35036219|PMID:9054950|PMID:9536098 12108451 NEU1 neuraminidase 1 gene DOID:3343 glycoproteinosis ISO RGD:735984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: Sialidosis PMID:10767332|PMID:10944856|PMID:11063730|PMID:11279074|PMID:11470272|PMID:11702224|PMID:11829139|PMID:14517945|PMID:14695530|PMID:15908988|PMID:16538002|PMID:16712870|PMID:17576681|PMID:18343720|PMID:19415310|PMID:19568825|PMID:21214877|PMID:24808020|PMID:25153125|PMID:25401298|PMID:25741868|PMID:26141460|PMID:28492532|PMID:29018767|PMID:29414417|PMID:30023283|PMID:30941624|PMID:32453490|PMID:32472645|PMID:32485644|PMID:32752208|PMID:33502066|PMID:35036219|PMID:9054950|PMID:9536098 12108451 NEU1 neuraminidase 1 gene DOID:3343 glycoproteinosis ISO RGD:735984 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Sialidosis PMID:10767332|PMID:10944856|PMID:11063730|PMID:11279074|PMID:11470272|PMID:11702224|PMID:11829139|PMID:14517945|PMID:14695530|PMID:15908988|PMID:16538002|PMID:16712870|PMID:17576681|PMID:18343720|PMID:19415310|PMID:19568825|PMID:21214877|PMID:24808020|PMID:25153125|PMID:25401298|PMID:25741868|PMID:26141460|PMID:28492532|PMID:29018767|PMID:29414417|PMID:30023283|PMID:30548430|PMID:30941624|PMID:31711734|PMID:32453490|PMID:32472645|PMID:32485644|PMID:32752208|PMID:33121223|PMID:33502066|PMID:35036219|PMID:9054950|PMID:9536098 12108451 NEU1 neuraminidase 1 gene DOID:630 genetic disease ISO RGD:735984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21214877|PMID:24767253|PMID:25153125|PMID:25323282|PMID:27848944|PMID:28492532 12108451 NEU1 neuraminidase 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:735984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 12108451 NEU1 neuraminidase 1 gene DOID:9008118 Neuraminidase Deficiency ISO RGD:735984 D RGD:7240710 20180130 OMIM 12108451 NEU1 neuraminidase 1 gene DOID:9008118 Neuraminidase Deficiency ISO RGD:735984 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuraminidase 1 deficiency | ClinVar Annotator: match by term: Sialidase deficiency | ClinVar Annotator: match by term: Sialidosis type I PMID:10767332|PMID:10944856|PMID:11063730|PMID:11279074|PMID:11470272|PMID:11702224|PMID:11829139|PMID:14517945|PMID:14695530|PMID:15908988|PMID:16538002|PMID:17576681|PMID:19415310|PMID:19568825|PMID:21214877|PMID:24808020|PMID:25153125|PMID:25401298|PMID:25741868|PMID:26141460|PMID:28492532|PMID:32453490|PMID:32485644|PMID:33121223|PMID:33502066|PMID:35036219|PMID:9054950|PMID:9536098 12108451 NEU1 neuraminidase 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:735984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal edema 12108466 KLHL40 kelch like family member 40 gene DOID:0110930 nemaline myopathy 8 ISO RGD:1313352 D RGD:7240710 20180130 OMIM 12108466 KLHL40 kelch like family member 40 gene DOID:0110930 nemaline myopathy 8 ISO RGD:1313352 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 8 PMID:16199547|PMID:17576681|PMID:23746549|PMID:24033266|PMID:24960163|PMID:25721947|PMID:25741868|PMID:26467025|PMID:26578207|PMID:27528495|PMID:27762439|PMID:28492532|PMID:28973083|PMID:31360996|PMID:32352246|PMID:32403337|PMID:9536098 12108466 KLHL40 kelch like family member 40 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1313352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 12108466 KLHL40 kelch like family member 40 gene DOID:630 genetic disease ISO RGD:1313352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12108476 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:735907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy PMID:16199547|PMID:17576681|PMID:18414213|PMID:21703448|PMID:24950454|PMID:25741868|PMID:25847220|PMID:26467025|PMID:28166811|PMID:28492532|PMID:28600779|PMID:29930392|PMID:9536098 12108476 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:0060685 autosomal dominant nocturnal frontal lobe epilepsy 4 ISO RGD:735907 D RGD:7240710 20180130 OMIM 12108476 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:0060685 autosomal dominant nocturnal frontal lobe epilepsy 4 ISO RGD:735907 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 4 PMID:16222669|PMID:16826524|PMID:17576681|PMID:18414213|PMID:21703448|PMID:24950454|PMID:25741868|PMID:25770198|PMID:26467025|PMID:28492532|PMID:9536098 12108476 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:735907 D RGD:7240710 20220727 OMIM 12108476 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:735907 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:16199547|PMID:17576681|PMID:18414213|PMID:21703448|PMID:24950454|PMID:25741868|PMID:25847220|PMID:26467025|PMID:28166811|PMID:28492532|PMID:9536098 12108476 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:735907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Seizures, benign familial infantile, 6 PMID:16199547|PMID:17576681|PMID:18414213|PMID:21703448|PMID:24950454|PMID:25741868|PMID:25847220|PMID:26467025|PMID:28166811|PMID:28492532|PMID:28600779|PMID:29930392|PMID:9536098 12108476 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:1059 intellectual disability ISO RGD:735907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12108476 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:1826 epilepsy ISO RGD:735907 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:24950454|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28492532 12108476 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:1826 epilepsy ISO RGD:735907 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12108476 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:630 genetic disease ISO RGD:735907 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:21703448|PMID:24950454|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29930392|PMID:9536098 12108476 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:9005154 Myoclonic Epilepsies ISO RGD:735907 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: myoclonic epilepsy PMID:28492532 12108476 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:9005172 Lung Neoplasms ISO RGD:735907 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28604730 12108493 LRRC38 leucine rich repeat containing 38 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602439 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12108493 LRRC38 leucine rich repeat containing 38 gene DOID:630 genetic disease ISO RGD:1602439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12108500 CTNND2 catenin delta 2 gene DOID:1324 lung cancer ISO RGD:1353744 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12108500 CTNND2 catenin delta 2 gene DOID:1470 major depressive disorder susceptibility ISO RGD:1353744 D RGD:9068941 20201218 RGD DNA:polymorphism:multiple (human) PMID:24256404|REF_RGD_ID:40902831 12108500 CTNND2 catenin delta 2 gene DOID:2030 anxiety disorder susceptibility ISO RGD:1353744 D RGD:9068941 20201218 RGD DNA:polymorphism:multiple (human) PMID:24256404|REF_RGD_ID:40902831 12108500 CTNND2 catenin delta 2 gene DOID:3068 glioblastoma ISO RGD:1353744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23917401 12108500 CTNND2 catenin delta 2 gene DOID:5419 schizophrenia ISO RGD:1353744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12108500 CTNND2 catenin delta 2 gene DOID:5419 schizophrenia susceptibility ISO RGD:1353744 D RGD:9068941 20201218 RGD DNA:polymorphism:multiple (human) PMID:24256404|REF_RGD_ID:40902831 12108500 CTNND2 catenin delta 2 gene DOID:630 genetic disease ISO RGD:1353744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12835311|PMID:15733271|PMID:25106414|PMID:25473103|PMID:25741868|PMID:25807484|PMID:25839933|PMID:26601658|PMID:29127138 12108500 CTNND2 catenin delta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353744 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12108500 CTNND2 catenin delta 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1353744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23917401 12108527 PALS1 protein associated with LIN7 1, MAGUK p55 family member gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1317631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 12108527 PALS1 protein associated with LIN7 1, MAGUK p55 family member gene DOID:14791 Leber congenital amaurosis ISO RGD:1317632 D RGD:9068941 20220825 MouseDO 12108527 PALS1 protein associated with LIN7 1, MAGUK p55 family member gene DOID:1969 cerebral palsy ISO RGD:1317631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:33073849 12108527 PALS1 protein associated with LIN7 1, MAGUK p55 family member gene DOID:630 genetic disease ISO RGD:1317631 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12108527 PALS1 protein associated with LIN7 1, MAGUK p55 family member gene DOID:9001325 Rett Syndrome, Atypical ISO RGD:1317631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:25741868|PMID:33073849 12108564 GPC4 glypican 4 gene DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 ISO RGD:1347282 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12108564 GPC4 glypican 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12108564 GPC4 glypican 4 gene DOID:0111842 Keipert syndrome ISO RGD:1347282 D RGD:7240710 20190626 OMIM 12108564 GPC4 glypican 4 gene DOID:0111842 Keipert syndrome ISO RGD:1347282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keipert syndrome PMID:25741868|PMID:30982611|PMID:4708024 12108564 GPC4 glypican 4 gene DOID:12849 autistic disorder ISO RGD:1347282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12108564 GPC4 glypican 4 gene DOID:2154 nephroblastoma ISO RGD:1347282 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12108564 GPC4 glypican 4 gene DOID:630 genetic disease ISO RGD:1347282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12108564 GPC4 glypican 4 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1347282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:31292255 12108564 GPC4 glypican 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1347282 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 12108584 CYB5D1 cytochrome b5 domain containing 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1603917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12108584 CYB5D1 cytochrome b5 domain containing 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1603917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12108584 CYB5D1 cytochrome b5 domain containing 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12108584 CYB5D1 cytochrome b5 domain containing 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1603917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12108584 CYB5D1 cytochrome b5 domain containing 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1603917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12108584 CYB5D1 cytochrome b5 domain containing 1 gene DOID:630 genetic disease ISO RGD:1603917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12108611 GASK1A golgi associated kinase 1A gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1606802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 12108611 GASK1A golgi associated kinase 1A gene DOID:630 genetic disease ISO RGD:1606802 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12108623 LYPD1 LY6/PLAUR domain containing 1 gene DOID:630 genetic disease ISO RGD:1349683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12108630 TIMM10B translocase of inner mitochondrial membrane 10B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12108630 TIMM10B translocase of inner mitochondrial membrane 10B gene DOID:630 genetic disease ISO RGD:736128 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12108637 GDF2 growth differentiation factor 2 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1353215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26801773 12108637 GDF2 growth differentiation factor 2 gene DOID:5419 schizophrenia ISO RGD:1353215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12108637 GDF2 growth differentiation factor 2 gene DOID:6432 pulmonary hypertension ISO RGD:1353215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26801773 12108637 GDF2 growth differentiation factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1353215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23936038|PMID:28284560 12108637 GDF2 growth differentiation factor 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1353215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868|PMID:26801773|PMID:28492532 12108637 GDF2 growth differentiation factor 2 gene DOID:9001906 Hereditary Hemorrhagic Telangiectasia, Type 5 ISO RGD:1353215 D RGD:7240710 20180130 OMIM 12108637 GDF2 growth differentiation factor 2 gene DOID:9001906 Hereditary Hemorrhagic Telangiectasia, Type 5 ISO RGD:1353215 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 5 PMID:23972370|PMID:25741868|PMID:26801773|PMID:27081547|PMID:28492532|PMID:29650961|PMID:30578397|PMID:31661308|PMID:31727138|PMID:32573726|PMID:32992168|PMID:34611981 12108637 GDF2 growth differentiation factor 2 gene DOID:9002589 Bone Fractures ISO RGD:1353215 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27394662 12108642 COQ5 coenzyme Q5, methyltransferase gene DOID:0080600 COVID-19 ISO RGD:1604266 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12108642 COQ5 coenzyme Q5, methyltransferase gene DOID:0112138 primary coenzyme Q10 deficiency 9 ISO RGD:1604266 D RGD:7240710 20200930 OMIM 12108642 COQ5 coenzyme Q5, methyltransferase gene DOID:0112138 primary coenzyme Q10 deficiency 9 ISO RGD:1604266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coenzyme q10 deficiency, primary, 9 PMID:29044765 12108642 COQ5 coenzyme Q5, methyltransferase gene DOID:1059 intellectual disability ISO RGD:1604266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12108642 COQ5 coenzyme Q5, methyltransferase gene DOID:630 genetic disease ISO RGD:1604266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12108656 MAG myelin associated glycoprotein gene DOID:0050256 angiostrongyliasis disease_progression ISO RGD:736776 D RGD:9068941 20200609 RGD PMID:20399564|REF_RGD_ID:27226693 12108656 MAG myelin associated glycoprotein gene DOID:0110222 Brugada syndrome 5 ISO RGD:732303 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12108656 MAG myelin associated glycoprotein gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:732303 D RGD:7240710 20180130 OMIM 12108656 MAG myelin associated glycoprotein gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:732303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:17576681|PMID:24482476|PMID:25741868|PMID:26179919|PMID:28492532|PMID:28832565|PMID:31227335|PMID:31402626|PMID:9536098 12108656 MAG myelin associated glycoprotein gene DOID:11446 sciatic neuropathy treatment ISO RGD:3035 D RGD:9068941 20200609 RGD PMID:17705198|REF_RGD_ID:9685295 12108656 MAG myelin associated glycoprotein gene DOID:12217 Lewy body dementia ISO RGD:732303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 12108656 MAG myelin associated glycoprotein gene DOID:14330 Parkinson's disease ISO RGD:732303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 12108656 MAG myelin associated glycoprotein gene DOID:2377 multiple sclerosis ISO RGD:732303 D RGD:9068941 20200609 RGD PMID:2419505|REF_RGD_ID:9685292 12108656 MAG myelin associated glycoprotein gene DOID:2476 hereditary spastic paraplegia ISO RGD:732303 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28492532|PMID:28832565|PMID:31402626 12108656 MAG myelin associated glycoprotein gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3035 D RGD:9068941 20200609 RGD PMID:15678116|REF_RGD_ID:9685232 12108656 MAG myelin associated glycoprotein gene DOID:543 dystonia ISO RGD:732303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12108656 MAG myelin associated glycoprotein gene DOID:573 nerve compression syndrome ISO RGD:3035 D RGD:9068941 20200609 RGD PMID:16764860|REF_RGD_ID:9685296 12108656 MAG myelin associated glycoprotein gene DOID:630 genetic disease ISO RGD:732303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12108656 MAG myelin associated glycoprotein gene DOID:9000998 Brain Injuries susceptibility ISO RGD:3035 D RGD:9068941 20200609 RGD PMID:17156367|REF_RGD_ID:9685230 12108656 MAG myelin associated glycoprotein gene DOID:9002498 Wallerian Degeneration ISO RGD:3035 D RGD:9068941 20200609 RGD PMID:12730963|REF_RGD_ID:9685301 12108656 MAG myelin associated glycoprotein gene DOID:9006973 Acute Experimental Autoimmune Encephalomyelitis ISO RGD:3035 D RGD:9068941 20200609 RGD protein:decreased expression:optic nerve PMID:9820787|REF_RGD_ID:9685300 12108680 FBXO28 F-box protein 28 gene DOID:1540 parathyroid carcinoma ISO RGD:1312107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12108680 FBXO28 F-box protein 28 gene DOID:630 genetic disease ISO RGD:1312107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356899|PMID:33280099 12108680 FBXO28 F-box protein 28 gene DOID:9003577 Developmental and Epileptic Encephalopathy 100 ISO RGD:1312107 D RGD:7240710 20220316 OMIM 12108680 FBXO28 F-box protein 28 gene DOID:9003577 Developmental and Epileptic Encephalopathy 100 ISO RGD:1312107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 100 PMID:25356899|PMID:33280099 12108680 FBXO28 F-box protein 28 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12108689 MPHOSPH10 M-phase phosphoprotein 10 gene DOID:543 dystonia ISO RGD:1316939 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12108689 MPHOSPH10 M-phase phosphoprotein 10 gene DOID:630 genetic disease ISO RGD:1316939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12108689 MPHOSPH10 M-phase phosphoprotein 10 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1316939 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12108710 SCRIB scribble planar cell polarity protein gene DOID:0080074 neural tube defect ISO RGD:1321471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:25741868 12108710 SCRIB scribble planar cell polarity protein gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1321471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12108710 SCRIB scribble planar cell polarity protein gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1321471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12108710 SCRIB scribble planar cell polarity protein gene DOID:10907 microcephaly ISO RGD:1321471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12108710 SCRIB scribble planar cell polarity protein gene DOID:4621 holoprosencephaly ISO RGD:1321471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12108710 SCRIB scribble planar cell polarity protein gene DOID:630 genetic disease ISO RGD:1321471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12108751 RNF112 ring finger protein 112 gene DOID:0050777 Joubert syndrome ISO RGD:68995 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12108751 RNF112 ring finger protein 112 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:68995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12108751 RNF112 ring finger protein 112 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:68995 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12108751 RNF112 ring finger protein 112 gene DOID:12849 autistic disorder ISO RGD:68995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12108751 RNF112 ring finger protein 112 gene DOID:630 genetic disease ISO RGD:68995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12108751 RNF112 ring finger protein 112 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:68995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 12108776 AKAP17A A-kinase anchoring protein 17A gene DOID:12849 autistic disorder ISO RGD:1606031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12108787 DDX20 DEAD-box helicase 20 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1320818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12108787 DDX20 DEAD-box helicase 20 gene DOID:630 genetic disease ISO RGD:1320818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12108802 OSBPL11 oxysterol binding protein like 11 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1316402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12108802 OSBPL11 oxysterol binding protein like 11 gene DOID:630 genetic disease ISO RGD:1316402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12108802 OSBPL11 oxysterol binding protein like 11 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1316402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 12108802 OSBPL11 oxysterol binding protein like 11 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1316402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12108802 OSBPL11 oxysterol binding protein like 11 gene DOID:9270 alkaptonuria ISO RGD:1316402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12108820 MIR146B microRNA mir-146b gene DOID:3021 acute kidney failure ISO RGD:1603775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 12108820 MIR146B microRNA mir-146b gene DOID:3393 coronary artery disease ISO RGD:1603775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20524934 12108820 MIR146B microRNA mir-146b gene DOID:9000469 Viral Myocarditis ameliorates ISO RGD:1603775 D RGD:9068941 20210129 RGD associated with Coxsackievirus Infections PMID:23588407|REF_RGD_ID:41404640 12108820 MIR146B microRNA mir-146b gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1603775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 12108820 MIR146B microRNA mir-146b gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1603775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21789255 12108820 MIR146B microRNA mir-146b gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2314885 D RGD:9068941 20230128 RGD miRNA:increased expression:heart (rat) PMID:19380620|REF_RGD_ID:155882541 12108820 MIR146B microRNA mir-146b gene DOID:9256 colorectal cancer ISO RGD:1603775 D RGD:9068941 20220728 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12108820 MIR146B microRNA mir-146b gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603775 D RGD:9068941 20200609 RGD RNA:increased expression:arteriole PMID:29374012|REF_RGD_ID:13702880 12108874 JHY junctional cadherin complex regulator gene DOID:5419 schizophrenia ISO RGD:1605626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12108874 JHY junctional cadherin complex regulator gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12108874 JHY junctional cadherin complex regulator gene DOID:9007661 Dwarfism ISO RGD:1605626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12108903 FAM118A family with sequence similarity 118 member A gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1345510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12108903 FAM118A family with sequence similarity 118 member A gene DOID:1059 intellectual disability ISO RGD:1345510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12108903 FAM118A family with sequence similarity 118 member A gene DOID:630 genetic disease ISO RGD:1345510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12108935 FKBP5 FKBP prolyl isomerase 5 gene DOID:0050553 JMP syndrome ISO RGD:1319338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12108935 FKBP5 FKBP prolyl isomerase 5 gene DOID:0080600 COVID-19 ISO RGD:1319338 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12108935 FKBP5 FKBP prolyl isomerase 5 gene DOID:1470 major depressive disorder ISO RGD:1319338 D RGD:7240710 20180130 OMIM 12108935 FKBP5 FKBP prolyl isomerase 5 gene DOID:1470 major depressive disorder ISO RGD:1319338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Major depressive disorder, increased recurrence of depressive episodes in, susceptibility to PMID:15565110 12108935 FKBP5 FKBP prolyl isomerase 5 gene DOID:2055 post-traumatic stress disorder ISO RGD:1319338 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Post-traumatic stress disorder PMID:18349090 12108935 FKBP5 FKBP prolyl isomerase 5 gene DOID:2841 asthma ISO RGD:1319338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma 12108935 FKBP5 FKBP prolyl isomerase 5 gene DOID:289 endometriosis ISO RGD:1319338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12108935 FKBP5 FKBP prolyl isomerase 5 gene DOID:630 genetic disease ISO RGD:1319338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12108935 FKBP5 FKBP prolyl isomerase 5 gene DOID:7148 rheumatoid arthritis ISO RGD:1319338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 12108935 FKBP5 FKBP prolyl isomerase 5 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1319338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25115650 12108935 FKBP5 FKBP prolyl isomerase 5 gene DOID:9003548 Infant, Newborn, Diseases ISO RGD:1319338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25115650 12108961 ANKRD65 ankyrin repeat domain 65 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:5508531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12108961 ANKRD65 ankyrin repeat domain 65 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:5508531 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12108961 ANKRD65 ankyrin repeat domain 65 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:5508531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12108961 ANKRD65 ankyrin repeat domain 65 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:5508531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12108961 ANKRD65 ankyrin repeat domain 65 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:5508531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12108961 ANKRD65 ankyrin repeat domain 65 gene DOID:0110994 Joubert syndrome 25 ISO RGD:5508531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12108961 ANKRD65 ankyrin repeat domain 65 gene DOID:0111934 immunodeficiency 38 ISO RGD:5508531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12108961 ANKRD65 ankyrin repeat domain 65 gene DOID:0111935 immunodeficiency 16 ISO RGD:5508531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12108961 ANKRD65 ankyrin repeat domain 65 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:5508531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12108961 ANKRD65 ankyrin repeat domain 65 gene DOID:630 genetic disease ISO RGD:5508531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12108961 ANKRD65 ankyrin repeat domain 65 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:5508531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12108961 ANKRD65 ankyrin repeat domain 65 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:5508531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12108961 ANKRD65 ankyrin repeat domain 65 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:5508531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:10268 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25447171|PMID:25661095|PMID:25741868|PMID:28492532 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:0050451 Brugada syndrome ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:17224476|PMID:17576681|PMID:20817017|PMID:22385640|PMID:22581653|PMID:22840528|PMID:23414114|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:25333069|PMID:25633834|PMID:25637381|PMID:25741868|PMID:25974115|PMID:27231019|PMID:27662471|PMID:27711072|PMID:28341588|PMID:28492532|PMID:28750076|PMID:30172029|PMID:30279520|PMID:31293105|PMID:31539150|PMID:31737537|PMID:32145446|PMID:9536098 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:0050700 cardiomyopathy ISO RGD:10268 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25184293|PMID:25741868|PMID:26230511|PMID:26386135|PMID:27502440|PMID:28492532|PMID:29046645|PMID:30345660 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:0050741 alcohol dependence ISO RGD:2245 D RGD:9068941 20220609 RGD mRNA, protein:increased expression:amygdala, hippocampus (rat) PMID:27905406|REF_RGD_ID:152985537 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:0050741 alcohol dependence ISO RGD:2245 D RGD:9068941 20220609 RGD protein:increased expression:inferior colliculus (human) PMID:25556199|REF_RGD_ID:152985539 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:0050793 short QT syndrome ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short QT Syndrome 4 | ClinVar Annotator: match by term: Short QT syndrome PMID:20031608|PMID:20817017|PMID:22840528|PMID:23861362|PMID:25447171|PMID:25633834|PMID:25741868|PMID:28492532 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:0060041 autism spectrum disorder ISO RGD:10268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:0060173 Timothy syndrome ISO RGD:10268 D RGD:7240710 20180130 OMIM 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:0060173 Timothy syndrome ISO RGD:10268 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CACNA1C-Related Disorder | ClinVar Annotator: match by term: Long qt syndrome 8 | ClinVar Annotator: match by term: Timothy syndrome | ClinVar Annotator: match by term: Timothy syndrome type 1 PMID:10343407|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22106044|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26637798|PMID:26822303|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30023270|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31293105|PMID:31376648|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32145446|PMID:32161207|PMID:33488405|PMID:9536098 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:10268 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25260352|PMID:25633834|PMID:25741868|PMID:28492532|PMID:30847666 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:0110220 Brugada syndrome 3 ISO RGD:10268 D RGD:7240710 20180130 OMIM 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:0110220 Brugada syndrome 3 ISO RGD:10268 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome 3 PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21878566|PMID:21910241|PMID:22385640|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23313911|PMID:23414114|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24728418|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25500949|PMID:25633834|PMID:25741868|PMID:25974115|PMID:26227324|PMID:26230511|PMID:26383259|PMID:26386135|PMID:26637798|PMID:26822303|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28371864|PMID:28492532|PMID:28600387|PMID:28704380|PMID:28750076|PMID:29046645|PMID:29568937|PMID:29915097|PMID:30027834|PMID:30279520|PMID:30345660|PMID:31539150|PMID:31737537|PMID:32145446|PMID:33488405|PMID:9536098 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:25741868|PMID:26253506|PMID:28492532|PMID:30025578|PMID:30172029|PMID:31110529|PMID:31408100|PMID:31430211|PMID:32161207 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:0110644 long QT syndrome 1 ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:18250309|PMID:19074970|PMID:20817017|PMID:21307850|PMID:21878566|PMID:21910241|PMID:22581653|PMID:23313911|PMID:23414114|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:24033266|PMID:24183960|PMID:25333069|PMID:25741868|PMID:25974115|PMID:26227324|PMID:26822303|PMID:27593853|PMID:27711072|PMID:27868338|PMID:28211989|PMID:28371864|PMID:28492532 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:10485 esophageal atresia ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:1059 intellectual disability ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:34163037 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:1059 intellectual disability ISO RGD:10268 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:10652 Alzheimer's disease ISO RGD:1550302 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:23403102|REF_RGD_ID:13782264 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:10763 hypertension ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22949532 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:10268 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:20817017|PMID:22840528|PMID:23861362|PMID:24439875|PMID:25260352|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26498160|PMID:28492532 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:20817017|PMID:22840528|PMID:23861362|PMID:24439875|PMID:25260352|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26498160|PMID:28492532|PMID:32145446 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:12849 autistic disorder ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15454078 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:12930 dilated cardiomyopathy ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23677916|PMID:24033266|PMID:25184293|PMID:25741868|PMID:28492532|PMID:30027834 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:1470 major depressive disorder ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:1612 breast cancer ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, invasive ductal PMID:28492532 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:1826 epilepsy ISO RGD:10268 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seizure PMID:33818783|PMID:34163037 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:1969 cerebral palsy ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868|PMID:28492532 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:2030 anxiety disorder ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:2055 post-traumatic stress disorder ISO RGD:10268 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Post-traumatic stress disorder PMID:32332995 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:12166659|PMID:15454078|PMID:15863612|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23174487|PMID:23414114|PMID:23575362|PMID:23631430|PMID:23677916|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26230511|PMID:26253506|PMID:26386135|PMID:26498160|PMID:26743238|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27662471|PMID:27711072|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28166811|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29568937|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30530868|PMID:30847666|PMID:31130284|PMID:31408100|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:33488405|PMID:9536098 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:2547171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26743238|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29396286|PMID:29568937|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:33488405|PMID:9536098 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26743238|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:33488405|PMID:9536098 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:9536098 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27854218|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:9536098 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34163037|PMID:9536098 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:3007 breast ductal carcinoma ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma PMID:28492532 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:3008 invasive ductal carcinoma ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, invasive ductal PMID:28492532 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:3312 bipolar disorder ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711365|PMID:21926972|PMID:21926974|PMID:31043756 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:10268 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25633834|PMID:25741868|PMID:28492532|PMID:28600387|PMID:28616568|PMID:29071820|PMID:31408100|PMID:32233023 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:397 restrictive cardiomyopathy ISO RGD:10268 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:20817017|PMID:22840528|PMID:23861362|PMID:25633834|PMID:25741868|PMID:27662471|PMID:28492532|PMID:28750076 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:5419 schizophrenia ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:6000 congestive heart failure ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868|PMID:28492532 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:6088 acute stress disorder ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:612 primary immunodeficiency disease ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15454078 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:630 genetic disease ISO RGD:10268 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10343407|PMID:23861362|PMID:25260352|PMID:25633834|PMID:25741868|PMID:27920829|PMID:28492532|PMID:34163037 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:6420 pulmonary valve stenosis ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:28492532 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9000064 Cardiac Arrhythmias ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:24690944|PMID:25741868|PMID:26253506|PMID:27218670|PMID:28492532|PMID:30025578|PMID:30172029|PMID:31110529|PMID:31408100|PMID:31430211|PMID:32161207 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9000495 Tremor ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intention tremor 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9001366 Psychomotor Agitation ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9002231 Fetal Growth Retardation ISO RGD:2245 D RGD:9068941 20220609 RGD protein:decreased expression:pancreas (rat) PMID:20873977|REF_RGD_ID:152985538 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9002775 Cognitive Dysfunction ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:17224476|PMID:17576681|PMID:20817017|PMID:22581653|PMID:22840528|PMID:23414114|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24183960|PMID:25333069|PMID:25633834|PMID:25637381|PMID:25741868|PMID:25974115|PMID:27231019|PMID:27662471|PMID:27711072|PMID:28341588|PMID:28492532|PMID:28750076|PMID:30279520|PMID:31293105|PMID:31539150|PMID:31737537|PMID:32145446|PMID:9536098 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9003163 Heart Block ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:10268 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25260352|PMID:25741868|PMID:34163037 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9004730 Romano-Ward Syndrome ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:18250309|PMID:19074970|PMID:21307850|PMID:21878566|PMID:21910241|PMID:22581653|PMID:23313911|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:25741868|PMID:26227324|PMID:26822303|PMID:27593853|PMID:27868338|PMID:28211989|PMID:28371864|PMID:28492532 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9005077 Joint Instability ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joint laxity 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9005141 Ventricular Tachycardia ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25260352|PMID:25741868|PMID:28492532|PMID:28704380|PMID:31737537 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9005466 Language Development Disorders ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Expressive language delay 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9006294 Congenital Limb Deformities ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15454078 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9006904 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES ISO RGD:10268 D RGD:7240710 20221214 OMIM 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9006904 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES ISO RGD:10268 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:18250309|PMID:19074970|PMID:20817017|PMID:21307850|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22840528|PMID:23313911|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:23861362|PMID:25633834|PMID:25741868|PMID:26227324|PMID:26822303|PMID:27593853|PMID:27662471|PMID:27868338|PMID:28211989|PMID:28371864|PMID:28492532|PMID:28750076|PMID:30513141|PMID:34163037 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia PMID:25260352|PMID:25633834|PMID:25741868|PMID:28492532|PMID:30847666 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9007820 Sudden Death ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:25741868|PMID:28492532 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9007925 Sudden Cardiac Death ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868|PMID:28492532 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:10268 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:28492532 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9120 amyloidosis ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidosis PMID:25741868|PMID:28492532 12109004 CACNA1C calcium voltage-gated channel subunit alpha1 C gene DOID:9993 hypoglycemia ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15454078 12109074 IL12A interleukin 12A gene DOID:12236 primary biliary cholangitis ISO RGD:1351047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20639880 12109074 IL12A interleukin 12A gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:1351047 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs6441286, rs574808(human) PMID:19458352|REF_RGD_ID:25440500 12109074 IL12A interleukin 12A gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:1351047 D RGD:9068941 20200609 RGD DNA:SNPs:enhancer:rs4679868, rs6441286, rs666251(human) PMID:27175695|REF_RGD_ID:25440489 12109074 IL12A interleukin 12A gene DOID:12236 primary biliary cholangitis treatment ISO RGD:1351047 D RGD:9068941 20200609 RGD DNA:SNP: :rs62270414(human) PMID:23433321|REF_RGD_ID:25440498 12109074 IL12A interleukin 12A gene DOID:12894 Sjogren's syndrome ISO RGD:1351047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 12109074 IL12A interleukin 12A gene DOID:1883 hepatitis C disease_progression ISO RGD:1351047 D RGD:9068941 20200609 RGD associated with diabetes mellitus; PMID:30243010|REF_RGD_ID:25440502 12109074 IL12A interleukin 12A gene DOID:1883 hepatitis C susceptibility ISO RGD:1351047 D RGD:9068941 20200609 RGD DNA:SNP:3'UTR: rs568408( G>A)(human) PMID:27819525|REF_RGD_ID:25440490 12109074 IL12A interleukin 12A gene DOID:2377 multiple sclerosis ISO RGD:1351047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24076602 12109074 IL12A interleukin 12A gene DOID:2841 asthma ISO RGD:732140 D RGD:9068941 20200609 RGD PMID:17056578|PMID:17548618|REF_RGD_ID:4373570|REF_RGD_ID:4438438 12109074 IL12A interleukin 12A gene DOID:3070 high grade glioma ISO RGD:1351047 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18176109 12109074 IL12A interleukin 12A gene DOID:630 genetic disease ISO RGD:1351047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109074 IL12A interleukin 12A gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1351047 D RGD:9068941 20200609 RGD DNA:SNP:3'UTR: rs568408( G>A)(human) PMID:20521253|REF_RGD_ID:25440491 12109074 IL12A interleukin 12A gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1351047 D RGD:9068941 20200609 RGD associated with hepatitis B; DNA:SNP, haplotype:3′UTR :rs568408(human) PMID:26631030|REF_RGD_ID:25440501 12109074 IL12A interleukin 12A gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1351047 D RGD:9068941 20200609 RGD associated with hepatitis C;DNA:SNP:3'UTR: rs568408( G>A)(human) PMID:27819525|REF_RGD_ID:25440490 12109074 IL12A interleukin 12A gene DOID:9002170 Experimental Neoplasms ISO RGD:1351047 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17332360 12109074 IL12A interleukin 12A gene DOID:9002395 Hypothermia ISO RGD:1351047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16369138 12109074 IL12A interleukin 12A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:732140 D RGD:9068941 20200609 RGD PMID:12471147|REF_RGD_ID:724447 12109074 IL12A interleukin 12A gene DOID:9004009 Reperfusion Injury ISO RGD:1351047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 12109074 IL12A interleukin 12A gene DOID:9007188 Liver Neoplasms ISO RGD:1351047 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17326190 12109074 IL12A interleukin 12A gene DOID:9008163 Chronic Hepatitis B ISO RGD:1351047 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:26062743|REF_RGD_ID:11097839 12109088 EPHA7 EPH receptor A7 gene DOID:5409 lung small cell carcinoma ISO RGD:732959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941188 12109088 EPHA7 EPH receptor A7 gene DOID:630 genetic disease ISO RGD:732959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109088 EPHA7 EPH receptor A7 gene DOID:9000039 Spinal Cord Injuries ISO RGD:70957 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:16983667|REF_RGD_ID:2301957 12109088 EPHA7 EPH receptor A7 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30357299 12109088 EPHA7 EPH receptor A7 gene DOID:9008217 Hemorrhage ISO RGD:732959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30357299 12109116 THAP1 THAP domain containing 1 gene DOID:0090039 torsion dystonia 6 ISO RGD:1316870 D RGD:7240710 20180130 OMIM 12109116 THAP1 THAP domain containing 1 gene DOID:0090039 torsion dystonia 6 ISO RGD:1316870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:17576681|PMID:19182804|PMID:19345147|PMID:19345148|PMID:19763152|PMID:19908320|PMID:20083799|PMID:20211909|PMID:20307669|PMID:20669277|PMID:20687191|PMID:20865765|PMID:20925076|PMID:21495072|PMID:21520283|PMID:21538522|PMID:21752024|PMID:21782490|PMID:21793105|PMID:21839475|PMID:21847143|PMID:22377579|PMID:22406018|PMID:22844099|PMID:22903657|PMID:23036512|PMID:23180184|PMID:24500857|PMID:24757586|PMID:24936516|PMID:24976531|PMID:25088175|PMID:25741868|PMID:26087139|PMID:26467025|PMID:26486352|PMID:26506956|PMID:26610312|PMID:27123488|PMID:27913194|PMID:28492532|PMID:28697333|PMID:29520331|PMID:31153764|PMID:31817799|PMID:33175450|PMID:33369735|PMID:9536098 12109116 THAP1 THAP domain containing 1 gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:1316870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 PMID:28492532 12109116 THAP1 THAP domain containing 1 gene DOID:0111959 immunodeficiency 15B ISO RGD:1316870 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 12109116 THAP1 THAP domain containing 1 gene DOID:543 dystonia ISO RGD:1316870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12109116 THAP1 THAP domain containing 1 gene DOID:630 genetic disease ISO RGD:1316870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20211909|PMID:24757586|PMID:25741868|PMID:26467025|PMID:28492532 12109116 THAP1 THAP domain containing 1 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:1316870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 12109116 THAP1 THAP domain containing 1 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1316870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 12109135 RPS3 ribosomal protein S3 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:736568 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12109135 RPS3 ribosomal protein S3 gene DOID:1059 intellectual disability ISO RGD:736568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12109135 RPS3 ribosomal protein S3 gene DOID:1909 melanoma ISO RGD:736568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12109135 RPS3 ribosomal protein S3 gene DOID:9003882 Chromosomal Instability ISO RGD:736568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25341047 12109146 COPS2 COP9 signalosome subunit 2 gene DOID:2717 Bloom syndrome ISO RGD:1353959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12109146 COPS2 COP9 signalosome subunit 2 gene DOID:289 endometriosis ISO RGD:1353959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12109146 COPS2 COP9 signalosome subunit 2 gene DOID:630 genetic disease ISO RGD:1353959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109146 COPS2 COP9 signalosome subunit 2 gene DOID:9256 colorectal cancer ISO RGD:1353959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:0050160 inhalation anthrax disease_progression ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:21124994|REF_RGD_ID:5135283 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:28824718|REF_RGD_ID:27095887 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1352024 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver,serum PMID:25048951|REF_RGD_ID:27095890 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:0080547 non-alcoholic steatohepatitis severity ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:25048951|REF_RGD_ID:27095890 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:0080599 Coronavirus infectious disease ISO RGD:1550709 D RGD:9068941 20200618 RGD PMID:19626487|PMID:19906920|REF_RGD_ID:27095957|REF_RGD_ID:4891446 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:0080600 COVID-19 ISO RGD:1352024 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:0080600 COVID-19 ISO RGD:1352024 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:0080600 COVID-19 ISO RGD:1352024 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:0080600 COVID-19 ISO RGD:1352024 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:31986264 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:0080600 COVID-19 severity ISO RGD:1352024 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|PMID:32360286|REF_RGD_ID:30309209|REF_RGD_ID:30309212 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:0080600 COVID-19 severity ISO RGD:1352024 D RGD:9068941 20230302 RGD PMID:32427582|REF_RGD_ID:30309200 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:1550709 D RGD:9068941 20200618 RGD PMID:30626685|REF_RGD_ID:30309198 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:0081267 graft-versus-host disease ISO RGD:1550709 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:intestine, liver, lung PMID:19218194|REF_RGD_ID:5135435 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:0081292 traumatic brain injury treatment ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:26435412|REF_RGD_ID:27095897 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:10247 pleurisy ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:14527170|REF_RGD_ID:5135449 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:10459 common cold ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:15764644|REF_RGD_ID:5135489 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:10533 viral pneumonia ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:17655904|REF_RGD_ID:5135437 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:10608 celiac disease ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:11394 adult respiratory distress syndrome ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:9288136|REF_RGD_ID:2311389 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:12236 primary biliary cholangitis ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:18624292|REF_RGD_ID:5135483 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:1287 cardiovascular system disease ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29114965 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:13141 uveitis ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:16505038|REF_RGD_ID:2311384 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:9834133|REF_RGD_ID:5135492 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:17550373|REF_RGD_ID:5135438 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:13580 cholestasis ISO RGD:1352024 D RGD:9068941 20200609 RGD associated with Chronic Hepatitis C; protein:increased expression:serum: PMID:30507970|REF_RGD_ID:27095896 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:13949 interstitial cystitis ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18957084 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:14004 thoracic aortic aneurysm severity ISO RGD:1352024 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:16014397|REF_RGD_ID:5135442 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:14095 boutonneuse fever ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:14507644|REF_RGD_ID:5135450 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:1520 colon carcinoma treatment ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:30381616|REF_RGD_ID:27095891 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:1591 renovascular hypertension ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:17062848|REF_RGD_ID:2311383 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:1883 hepatitis C ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18775023|REF_RGD_ID:27095893 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:1883 hepatitis C disease_progression ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:24668726|REF_RGD_ID:27095945 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:1883 hepatitis C treatment ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:25512630|REF_RGD_ID:27095943 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2043 hepatitis B disease_progression ISO RGD:1352024 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-201G>A(human) PMID:18325387|REF_RGD_ID:27095959 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2316 brain ischemia ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2316 brain ischemia ISO RGD:620209 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:17549754|REF_RGD_ID:2311381 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2799 bronchiolitis obliterans ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:12097412|REF_RGD_ID:5135451 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2799 bronchiolitis obliterans ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:12097412|PMID:16709871|REF_RGD_ID:5135441|REF_RGD_ID:5135451 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2841 asthma ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16602032|PMID:17302903|REF_RGD_ID:5135439|REF_RGD_ID:5135457 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2841 asthma ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:11994485|REF_RGD_ID:5135452 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2917 cryoglobulinemia ISO RGD:1352024 D RGD:9068941 20200609 RGD associated with hepatitis C; protein:increased expression:serum PMID:18775023|REF_RGD_ID:27095893 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17052299|REF_RGD_ID:5135440 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1352024 D RGD:9068941 20200702 RGD protein:increased expression:serum (human) PMID:15602737|REF_RGD_ID:32716399 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1550709 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1550709 D RGD:9068941 20200619 RGD mRNA, protein: increased expression, altered expression:lung (mouse) PMID:15356152|REF_RGD_ID:30309221 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1550709 D RGD:9068941 20200619 RGD protein:increased expression:lung (mouse) PMID:20231782|REF_RGD_ID:30309216 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1352024 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1352024 D RGD:9068941 20200619 RGD mRNA, protein:increased expression:plasma, lung (human) PMID:16195357|REF_RGD_ID:30309218 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1352024 D RGD:9068941 20200619 RGD mRNA, protein:increased expression:serum, lung (human) PMID:15657466|REF_RGD_ID:30309219 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1352024 D RGD:9068941 20200619 RGD protein:increased expression:lung (human) PMID:17129463|REF_RGD_ID:30309217 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1550709 D RGD:9068941 20200618 RGD mRNA:increased expression:lung (mouse) PMID:32365944|REF_RGD_ID:30309207 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1352024 D RGD:9068941 20200702 RGD PMID:15781938|PMID:15865221|REF_RGD_ID:30309220|REF_RGD_ID:33769580 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1550709 D RGD:9068941 20200702 RGD PMID:32553273|REF_RGD_ID:32716426 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:2957 pulmonary tuberculosis treatment ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:29843631|REF_RGD_ID:27095956 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:3082 interstitial lung disease ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage PMID:19816001|REF_RGD_ID:5135305 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:3082 interstitial lung disease ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19565490|REF_RGD_ID:5135306 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:17925429|REF_RGD_ID:5135436 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:326 ischemia ISO RGD:1550709 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:16709871|REF_RGD_ID:5135441 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:3310 atopic dermatitis ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:3454 brain infarction ISO RGD:620209 D RGD:9068941 20230216 RGD protein:increased expression:brain (rat) PMID:19895873|REF_RGD_ID:2325193 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:3525 middle cerebral artery infarction ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:10825390|REF_RGD_ID:632989 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:418 systemic scleroderma ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:21049277|REF_RGD_ID:5135284 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:418 systemic scleroderma ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21303517|REF_RGD_ID:5135279 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:4247 coronary restenosis ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:14578618|REF_RGD_ID:1598500 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:437 myasthenia gravis ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:15843529|REF_RGD_ID:1598501 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:5082 liver cirrhosis ISO RGD:1352024 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11418676|REF_RGD_ID:27095892 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:29105936|REF_RGD_ID:27095953 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:5082 liver cirrhosis severity ISO RGD:1352024 D RGD:9068941 20200609 RGD associated with Chronic Hepatitis B; PMID:28067328|REF_RGD_ID:27095955 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:27246604|REF_RGD_ID:14995461 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:552 pneumonia ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:15265940|REF_RGD_ID:5135445 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:552 pneumonia ISO RGD:1550709 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;mRNA:increased expression:lung PMID:14979941|REF_RGD_ID:5135491 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:576 proteinuria ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:16382022|REF_RGD_ID:2311386 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:630 genetic disease ISO RGD:1352024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:6713 cerebrovascular disease ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29114965 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:28592115|REF_RGD_ID:27095889 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:27245433|REF_RGD_ID:27095899 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:28638480|REF_RGD_ID:27095898 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:820 myocarditis ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:15322218|REF_RGD_ID:1598502 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1352024 D RGD:9068941 20200609 RGD mRNA:increased expression:alveolar macrophage PMID:15725351|REF_RGD_ID:5135490 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:14991597|REF_RGD_ID:5135448 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:874 bacterial pneumonia ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:15618188|REF_RGD_ID:5135459 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:874 bacterial pneumonia severity ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:16299319|REF_RGD_ID:5135458 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1352024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:8947 diabetic retinopathy ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:17194635|REF_RGD_ID:2311361 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:19170890|REF_RGD_ID:2311365 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9000238 Acute-On-Chronic Liver Failure susceptibility ISO RGD:1352024 D RGD:9068941 20200609 RGD associated with liver cirrhosis; PMID:29105936|REF_RGD_ID:27095953 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9000998 Brain Injuries ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1352024 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9001488 Human Influenza ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:18041715|REF_RGD_ID:27095942 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1352024 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:19073786|REF_RGD_ID:2311357 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1352024 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:17425653|REF_RGD_ID:2311359 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1550709 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:21273392|REF_RGD_ID:5683877 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9002395 Hypothermia ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:16469832|REF_RGD_ID:2311385 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9002928 Colonic Neoplasms ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9003281 Spontaneous Abortions ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9003617 Carrington Syndrome ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:15956791|REF_RGD_ID:5135443 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9004009 Reperfusion Injury ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:16709871|REF_RGD_ID:5135441 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9004009 Reperfusion Injury ISO RGD:1550709 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;protein:increased expression:lung PMID:19433855|REF_RGD_ID:5135307 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9004009 Reperfusion Injury ISO RGD:620209 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:18589091|REF_RGD_ID:2311376 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:31127759|REF_RGD_ID:27095949 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9004283 Transplant Rejection severity ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:28245475|REF_RGD_ID:27095950 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:23227188|REF_RGD_ID:27095895 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1550709 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreatic islet PMID:17372021|REF_RGD_ID:2311360 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:1352024 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:23593305|REF_RGD_ID:38508895 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9006618 Liver Metastasis treatment ISO RGD:1550709 D RGD:9068941 20200609 RGD associated with colon carcinoma; PMID:30381616|REF_RGD_ID:27095891 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20561238|REF_RGD_ID:5135493 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9006928 Viral Bronchiolitis ISO RGD:620209 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:12909590|REF_RGD_ID:2311388 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9007102 Myocardial Ischemia ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11739529 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1352024 D RGD:9068941 20200609 RGD mRNA,protein:increased expression: peripheral blood mononuclear cell,serum, sinusoidal endothelium PMID:18234638|REF_RGD_ID:27095951 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:30660173|REF_RGD_ID:27095888 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:15843529|PMID:19232748|REF_RGD_ID:1598501|REF_RGD_ID:2311364 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9009049 Foot Ulcer ISO RGD:1352024 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:19509015|REF_RGD_ID:2311355 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9146 visceral leishmaniasis ISO RGD:1550709 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:16239557|REF_RGD_ID:27095947 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:19187771|REF_RGD_ID:2311356 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9452 fatty liver disease ISO RGD:1352024 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver,serum PMID:25048951|REF_RGD_ID:27095890 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9588 encephalitis ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:18405324|REF_RGD_ID:2311377 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9675 pulmonary emphysema ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:lung, lymphocyte PMID:15526056|REF_RGD_ID:4892104 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19046227|REF_RGD_ID:2311358 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:16148094|REF_RGD_ID:2311363 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:16339582|REF_RGD_ID:2311362 12109165 CXCL10 C-X-C motif chemokine ligand 10 gene DOID:986 alopecia areata ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22358057 12109171 TBC1D23 TBC1 domain family member 23 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1601860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:28823707 12109171 TBC1D23 TBC1 domain family member 23 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1601860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:28823707 12109171 TBC1D23 TBC1 domain family member 23 gene DOID:0112324 pontocerebellar hypoplasia type 11 ISO RGD:1601860 D RGD:7240710 20190315 OMIM 12109171 TBC1D23 TBC1 domain family member 23 gene DOID:0112324 pontocerebellar hypoplasia type 11 ISO RGD:1601860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 11 PMID:25741868|PMID:28823706|PMID:28823707 12109171 TBC1D23 TBC1 domain family member 23 gene DOID:630 genetic disease ISO RGD:1601860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109197 WDSUB1 WD repeat, sterile alpha motif and U-box domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1346298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 12109197 WDSUB1 WD repeat, sterile alpha motif and U-box domain containing 1 gene DOID:630 genetic disease ISO RGD:1346298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109216 LANCL1 LanC like glutathione S-transferase 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:69464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12109216 LANCL1 LanC like glutathione S-transferase 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:69464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12109216 LANCL1 LanC like glutathione S-transferase 1 gene DOID:630 genetic disease ISO RGD:69464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109216 LANCL1 LanC like glutathione S-transferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12109229 KIAA1328 KIAA1328 gene DOID:1059 intellectual disability ISO RGD:1343837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12109229 KIAA1328 KIAA1328 gene DOID:630 genetic disease ISO RGD:1343837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109271 SGSM2 small G protein signaling modulator 2 gene DOID:10283 prostate cancer ISO RGD:1315867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12109271 SGSM2 small G protein signaling modulator 2 gene DOID:630 genetic disease ISO RGD:1315867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109271 SGSM2 small G protein signaling modulator 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12109322 PI16 peptidase inhibitor 16 gene DOID:0050553 JMP syndrome ISO RGD:1312389 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12109322 PI16 peptidase inhibitor 16 gene DOID:630 genetic disease ISO RGD:1312389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109336 DNAJC27 DnaJ heat shock protein family (Hsp40) member C27 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1602712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 12109336 DNAJC27 DnaJ heat shock protein family (Hsp40) member C27 gene DOID:630 genetic disease ISO RGD:1602712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109347 C18H7orf25 chromosome 18 C7orf25 homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12109347 C18H7orf25 chromosome 18 C7orf25 homolog gene DOID:630 genetic disease ISO RGD:1317752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109355 MAP4K1 mitogen-activated protein kinase kinase kinase kinase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:1305463 D RGD:9068941 20200609 RGD PMID:18382279|PMID:18498770|REF_RGD_ID:7495845|REF_RGD_ID:7495847 12109355 MAP4K1 mitogen-activated protein kinase kinase kinase kinase 1 gene DOID:630 genetic disease ISO RGD:1313504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109391 SLC6A1 solute carrier family 6 member 1 gene DOID:0060001 withdrawal disorder ISO RGD:620533 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:15976529|REF_RGD_ID:1643202 12109391 SLC6A1 solute carrier family 6 member 1 gene DOID:0060001 withdrawal disorder ISO RGD:731475 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14598306 12109391 SLC6A1 solute carrier family 6 member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:731475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:22495306|PMID:24859339|PMID:25741868|PMID:25865495|PMID:28492532|PMID:29315614 12109391 SLC6A1 solute carrier family 6 member 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:731475 D RGD:7240710 20180130 OMIM 12109391 SLC6A1 solute carrier family 6 member 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:731475 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder PMID:14744863|PMID:15496410|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19344873|PMID:22495306|PMID:24859339|PMID:25363768|PMID:25741868|PMID:25865495|PMID:26467025|PMID:26716362|PMID:27541642|PMID:27824329|PMID:27959697|PMID:28135719|PMID:28191889|PMID:28213519|PMID:28492532|PMID:28708303|PMID:28856709|PMID:29315614|PMID:29358611|PMID:29933521|PMID:29961511|PMID:30132828|PMID:30525188|PMID:31031587|PMID:31176687|PMID:31273778|PMID:31302675|PMID:31332282|PMID:31401500|PMID:31780880|PMID:31785789|PMID:31981491|PMID:32005694|PMID:32581362|PMID:32660967|PMID:32913952|PMID:33961861|PMID:34006619|PMID:34489640|PMID:9536098 12109391 SLC6A1 solute carrier family 6 member 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:731475 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy PMID:25865495|PMID:27959697|PMID:28191889|PMID:28492532|PMID:34006619 12109391 SLC6A1 solute carrier family 6 member 1 gene DOID:1059 intellectual disability ISO RGD:731475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12109391 SLC6A1 solute carrier family 6 member 1 gene DOID:1826 epilepsy ISO RGD:731475 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532|PMID:32581362 12109391 SLC6A1 solute carrier family 6 member 1 gene DOID:2316 brain ischemia ISO RGD:620533 D RGD:9068941 20200609 RGD PMID:15084665|REF_RGD_ID:1643209 12109391 SLC6A1 solute carrier family 6 member 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20132478 12109391 SLC6A1 solute carrier family 6 member 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:620533 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:15248296|REF_RGD_ID:1643206 12109391 SLC6A1 solute carrier family 6 member 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:731475 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:15248296|REF_RGD_ID:1643206 12109391 SLC6A1 solute carrier family 6 member 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:731476 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:15248296|REF_RGD_ID:1643206 12109391 SLC6A1 solute carrier family 6 member 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:731475 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611 12109391 SLC6A1 solute carrier family 6 member 1 gene DOID:3526 cerebral infarction ISO RGD:620533 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex, neuron PMID:15349978|REF_RGD_ID:1643205 12109391 SLC6A1 solute carrier family 6 member 1 gene DOID:5419 schizophrenia ISO RGD:731475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18923069 12109391 SLC6A1 solute carrier family 6 member 1 gene DOID:5419 schizophrenia ISO RGD:731476 D RGD:9068941 20220825 MouseDO OMIM:181500 12109391 SLC6A1 solute carrier family 6 member 1 gene DOID:630 genetic disease ISO RGD:731475 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12451126|PMID:17576681|PMID:22495306|PMID:23020937|PMID:24859339|PMID:25741868|PMID:25865495|PMID:26467025|PMID:26716362|PMID:28492532|PMID:29315614|PMID:9536098|PMID:9623887 12109391 SLC6A1 solute carrier family 6 member 1 gene DOID:9000641 Pain ISO RGD:731476 D RGD:9068941 20200609 RGD PMID:17918738|REF_RGD_ID:1643217 12109391 SLC6A1 solute carrier family 6 member 1 gene DOID:9004012 Nervous System Lead Poisoning, Adult ISO RGD:620533 D RGD:9068941 20200609 RGD protein:increased expression:brain, synaptosome PMID:15149801|REF_RGD_ID:1643208 12109391 SLC6A1 solute carrier family 6 member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731475 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:27541642|PMID:28492532 12109391 SLC6A1 solute carrier family 6 member 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:731475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12109391 SLC6A1 solute carrier family 6 member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:731475 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25363768|PMID:25741868|PMID:27824329|PMID:28492532|PMID:30132828|PMID:31332282|PMID:31981491|PMID:32581362 12109391 SLC6A1 solute carrier family 6 member 1 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:731475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12109391 SLC6A1 solute carrier family 6 member 1 gene DOID:9970 obesity ISO RGD:731476 D RGD:9068941 20200609 RGD PMID:11191352|REF_RGD_ID:1643191 12109412 GPC1 glypican 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:730930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12109412 GPC1 glypican 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:730930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12109412 GPC1 glypican 1 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:730930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 12109412 GPC1 glypican 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:730930 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12109412 GPC1 glypican 1 gene DOID:1059 intellectual disability ISO RGD:730930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12109412 GPC1 glypican 1 gene DOID:630 genetic disease ISO RGD:730930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109412 GPC1 glypican 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730930 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 12109412 GPC1 glypican 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:730930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12109426 ZFYVE27 zinc finger FYVE-type containing 27 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1352080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant 12109426 ZFYVE27 zinc finger FYVE-type containing 27 gene DOID:0110784 hereditary spastic paraplegia 33 ISO RGD:1352080 D RGD:7240710 20180130 OMIM 12109426 ZFYVE27 zinc finger FYVE-type containing 27 gene DOID:0110784 hereditary spastic paraplegia 33 ISO RGD:1352080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 33 | ClinVar Annotator: match by term: Spastic tetraparesis PMID:16826525|PMID:18606302|PMID:24668814|PMID:25741868|PMID:28492532|PMID:30564185 12109426 ZFYVE27 zinc finger FYVE-type containing 27 gene DOID:607 paraplegia ISO RGD:1352080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16826525|PMID:17576681|PMID:18606302|PMID:24668814|PMID:25741868|PMID:28166811|PMID:28492532|PMID:30564185 12109426 ZFYVE27 zinc finger FYVE-type containing 27 gene DOID:630 genetic disease ISO RGD:1352080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28166811|PMID:28492532 12109444 SHTN1 shootin 1 gene DOID:630 genetic disease ISO RGD:1347565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109472 CCNYL1 cyclin Y like 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1606146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12109472 CCNYL1 cyclin Y like 1 gene DOID:630 genetic disease ISO RGD:1606146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109472 CCNYL1 cyclin Y like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12109492 ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1346398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12109492 ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1346398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12109492 ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 gene DOID:224 transient cerebral ischemia ISO RGD:621242 D RGD:9068941 20200609 RGD PMID:16630594|REF_RGD_ID:9681747 12109492 ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 gene DOID:630 genetic disease ISO RGD:1346398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109492 ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1346398 D RGD:9068941 20200609 RGD mRNA:increased expression:synovium PMID:11801682|REF_RGD_ID:10043106 12109492 ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 gene DOID:8398 osteoarthritis treatment ISO RGD:1550099 D RGD:9068941 20200609 RGD associated with Bone Diseases, Metabolic PMID:22432033|REF_RGD_ID:10043110 12109492 ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 gene DOID:90 degenerative disc disease ISO RGD:621242 D RGD:9068941 20200609 RGD PMID:22394620|REF_RGD_ID:10043115 12109492 ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12109505 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:0050753 cerebellar ataxia ISO RGD:1606287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25558065 12109505 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:0050952 spastic ataxia ISO RGD:1606287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25044680|PMID:25741868|PMID:28492532|PMID:34445196 12109505 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1606287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:20920667|PMID:23052947|PMID:23275319|PMID:24305467|PMID:25741868|PMID:25880436|PMID:26888482|PMID:27175728|PMID:27473727|PMID:27576344|PMID:28492532|PMID:29709707|PMID:31589614|PMID:33600046 12109505 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1606287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:20920667|PMID:23052947|PMID:23275319|PMID:24305467|PMID:25741868|PMID:25880436|PMID:26888482|PMID:27175728|PMID:27473727|PMID:27576344|PMID:28492532|PMID:29709707|PMID:31589614|PMID:33600046 12109505 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:0060270 pontocerebellar hypoplasia type 2D ISO RGD:1606287 D RGD:7240710 20180130 OMIM 12109505 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:0060270 pontocerebellar hypoplasia type 2D ISO RGD:1606287 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2D PMID:12920088|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20920667|PMID:23052947|PMID:23275319|PMID:24305467|PMID:25044680|PMID:25558065|PMID:25590979|PMID:25741868|PMID:25880436|PMID:26115735|PMID:26805434|PMID:26888482|PMID:27175728|PMID:27473727|PMID:27576344|PMID:28492532|PMID:29709707|PMID:31130284|PMID:31589614|PMID:31607746|PMID:32214227|PMID:33600046|PMID:34445196|PMID:9536098 12109505 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:0070338 cerebellar hypoplasia ISO RGD:1606287 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868 12109505 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:630 genetic disease ISO RGD:1606287 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25558065|PMID:25590979|PMID:25741868|PMID:26115735|PMID:28492532|PMID:31607746|PMID:9536098 12109505 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12109505 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:9004657 Weight Gain ISO RGD:1606287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12109526 RNF223 ring finger protein 223 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:5132242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12109526 RNF223 ring finger protein 223 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:5132242 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12109526 RNF223 ring finger protein 223 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:5132242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12109526 RNF223 ring finger protein 223 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:5132242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12109526 RNF223 ring finger protein 223 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:5132242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12109526 RNF223 ring finger protein 223 gene DOID:0110994 Joubert syndrome 25 ISO RGD:5132242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12109526 RNF223 ring finger protein 223 gene DOID:0111934 immunodeficiency 38 ISO RGD:5132242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12109526 RNF223 ring finger protein 223 gene DOID:0111935 immunodeficiency 16 ISO RGD:5132242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12109526 RNF223 ring finger protein 223 gene DOID:630 genetic disease ISO RGD:5132242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109526 RNF223 ring finger protein 223 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:5132242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12109526 RNF223 ring finger protein 223 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:5132242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12109526 RNF223 ring finger protein 223 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:5132242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12109534 GFRA2 GDNF family receptor alpha 2 gene DOID:0080855 Parkinsonism ISO RGD:61809 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:12210101|REF_RGD_ID:6218972 12109534 GFRA2 GDNF family receptor alpha 2 gene DOID:630 genetic disease ISO RGD:732295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109534 GFRA2 GDNF family receptor alpha 2 gene DOID:9008091 Optic Nerve Injuries ISO RGD:61809 D RGD:9068941 20200609 RGD PMID:15144875|REF_RGD_ID:6218970 12109547 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:10283 prostate cancer ISO RGD:68478 D RGD:9068941 20200609 RGD PMID:26677064|REF_RGD_ID:11561757 12109547 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:1059 intellectual disability ISO RGD:68478 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:16357568|PMID:21984976|PMID:22729224|PMID:24497998|PMID:25741868|PMID:26520804|PMID:26860062|PMID:27854409|PMID:28086757|PMID:28492532|PMID:28502725|PMID:33818783 12109547 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:1826 epilepsy ISO RGD:68478 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizure PMID:16357568|PMID:21984976|PMID:22729224|PMID:24497998|PMID:25741868|PMID:26520804|PMID:26860062|PMID:27854409|PMID:28086757|PMID:28492532|PMID:28502725|PMID:33818783 12109547 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:219 colon cancer ISO RGD:68478 D RGD:9068941 20200609 RGD PMID:18663744|REF_RGD_ID:13432043 12109547 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:68478 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:15591514|REF_RGD_ID:14390084 12109547 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:630 genetic disease ISO RGD:68478 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16357568|PMID:21984976|PMID:22729224|PMID:24497998|PMID:25741868|PMID:26520804|PMID:26860062|PMID:27854409|PMID:28086757|PMID:28492532|PMID:28502725|PMID:33818783 12109547 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:68341 D RGD:9068941 20220520 RGD PMID:25999787|REF_RGD_ID:152177911 12109547 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12109547 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9002403 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome ISO RGD:68478 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME PMID:16357568|PMID:21984976|PMID:22729224|PMID:24497998|PMID:25741868|PMID:26520804|PMID:26860062|PMID:27854409|PMID:28086757|PMID:28492532|PMID:28502725|PMID:33818783 12109547 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9002647 Megalencephaly - Cutis Marmorata Telangiectatica Congenita ISO RGD:68478 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macrocephaly cutis marmorata telangiectatica congenita PMID:16357568|PMID:21984976|PMID:22729224|PMID:24497998|PMID:25741868|PMID:26520804|PMID:26860062|PMID:27854409|PMID:28086757|PMID:28492532|PMID:28502725|PMID:33818783 12109547 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:68479 D RGD:9068941 20200609 RGD PMID:22733740|REF_RGD_ID:13432042 12109547 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:68478 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation PMID:21984976|PMID:25741868 12109547 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9008086 Developmental Disabilities ISO RGD:68478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12109547 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:68478 D RGD:7240710 20190327 OMIM 12109547 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:68478 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:16357568|PMID:17576681|PMID:17675034|PMID:21984976|PMID:22729224|PMID:23745724|PMID:24497998|PMID:25741868|PMID:26520804|PMID:26860062|PMID:27854409|PMID:28086757|PMID:28166811|PMID:28492532|PMID:28502725|PMID:33818783|PMID:34170046|PMID:9536098 12109547 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9538 multiple myeloma ISO RGD:68478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12109568 RNASEH2C ribonuclease H2 subunit C gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1604574 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:16845400|PMID:17576681|PMID:17846997|PMID:19015152|PMID:19034401|PMID:20131292|PMID:23322642|PMID:25604658|PMID:25741868|PMID:28492532|PMID:29150899|PMID:29239743|PMID:31529068|PMID:34302356|PMID:9536098 12109568 RNASEH2C ribonuclease H2 subunit C gene DOID:1059 intellectual disability ISO RGD:1604574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12109568 RNASEH2C ribonuclease H2 subunit C gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12109568 RNASEH2C ribonuclease H2 subunit C gene DOID:2746 glycogen storage disease V ISO RGD:1604574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12109568 RNASEH2C ribonuclease H2 subunit C gene DOID:630 genetic disease ISO RGD:1604574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12109568 RNASEH2C ribonuclease H2 subunit C gene DOID:9000615 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES ISO RGD:1604574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities PMID:25741868|PMID:32822602 12109568 RNASEH2C ribonuclease H2 subunit C gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1604574 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12109568 RNASEH2C ribonuclease H2 subunit C gene DOID:9006534 Nervous System Malformations ISO RGD:1604574 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16845400|PMID:17846997|PMID:19015152|PMID:19034401|PMID:20131292|PMID:23322642|PMID:25604658|PMID:25741868|PMID:28492532|PMID:29150899|PMID:29239743|PMID:31529068|PMID:34302356 12109568 RNASEH2C ribonuclease H2 subunit C gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604574 D RGD:7240710 20180130 OMIM 12109568 RNASEH2C ribonuclease H2 subunit C gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:16199547|PMID:16845400|PMID:17576681|PMID:17846997|PMID:19015152|PMID:19034401|PMID:20131292|PMID:23322642|PMID:25500883|PMID:25604658|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28600438|PMID:29150899|PMID:29239743|PMID:29389947|PMID:30315573|PMID:31130681|PMID:31529068|PMID:32404165|PMID:34008892|PMID:34055681|PMID:34302356|PMID:9536098 12109589 CLEC12B C-type lectin domain family 12 member B gene DOID:0080600 COVID-19 ISO RGD:1605796 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12109589 CLEC12B C-type lectin domain family 12 member B gene DOID:630 genetic disease ISO RGD:1605796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109602 PIANP PILR alpha associated neural protein gene DOID:0060041 autism spectrum disorder ISO RGD:1312691 D RGD:9068941 20220825 MouseDO 12109602 PIANP PILR alpha associated neural protein gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1606434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12109602 PIANP PILR alpha associated neural protein gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1606434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12109602 PIANP PILR alpha associated neural protein gene DOID:0111621 Temtamy syndrome ISO RGD:1606434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12109602 PIANP PILR alpha associated neural protein gene DOID:630 genetic disease ISO RGD:1606434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109602 PIANP PILR alpha associated neural protein gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1606434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12109610 MAPK13 mitogen-activated protein kinase 13 gene DOID:0050553 JMP syndrome ISO RGD:737240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12109610 MAPK13 mitogen-activated protein kinase 13 gene DOID:13580 cholestasis ISO RGD:737240 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20626112 12109610 MAPK13 mitogen-activated protein kinase 13 gene DOID:630 genetic disease ISO RGD:737240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109633 OR5H11 olfactory receptor family 5 subfamily H member 11 gene DOID:630 genetic disease ISO RGD:1347959 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109636 ZNF74 zinc finger protein 74 gene DOID:0060041 autism spectrum disorder ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12109636 ZNF74 zinc finger protein 74 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1353341 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12109636 ZNF74 zinc finger protein 74 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1353341 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12109636 ZNF74 zinc finger protein 74 gene DOID:1059 intellectual disability ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12109636 ZNF74 zinc finger protein 74 gene DOID:11198 DiGeorge syndrome ISO RGD:1353341 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12109636 ZNF74 zinc finger protein 74 gene DOID:11372 megacolon ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12109636 ZNF74 zinc finger protein 74 gene DOID:12583 velocardiofacial syndrome ISO RGD:1353341 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12109636 ZNF74 zinc finger protein 74 gene DOID:12849 autistic disorder ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12109636 ZNF74 zinc finger protein 74 gene DOID:1826 epilepsy ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12109636 ZNF74 zinc finger protein 74 gene DOID:2213 hemorrhagic disease ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 12109636 ZNF74 zinc finger protein 74 gene DOID:5419 schizophrenia ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12109636 ZNF74 zinc finger protein 74 gene DOID:612 primary immunodeficiency disease ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12109636 ZNF74 zinc finger protein 74 gene DOID:630 genetic disease ISO RGD:1353341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109636 ZNF74 zinc finger protein 74 gene DOID:9003871 Venous Thrombosis ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 12109636 ZNF74 zinc finger protein 74 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12109636 ZNF74 zinc finger protein 74 gene DOID:9007661 Dwarfism ISO RGD:1353341 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12109652 IGSF6 immunoglobulin superfamily member 6 gene DOID:0110480 autosomal recessive nonsyndromic deafness 22 ISO RGD:1343123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 22 PMID:25741868|PMID:33492714 12109652 IGSF6 immunoglobulin superfamily member 6 gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1343123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 9 PMID:25741868 12109652 IGSF6 immunoglobulin superfamily member 6 gene DOID:3042 allergic contact dermatitis ISO RGD:1343123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 12109652 IGSF6 immunoglobulin superfamily member 6 gene DOID:630 genetic disease ISO RGD:1343123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109652 IGSF6 immunoglobulin superfamily member 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12109674 GIP gastric inhibitory polypeptide gene DOID:11465 autonomic nervous system disease ISO RGD:1353884 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human) PMID:18376350|REF_RGD_ID:2312592 12109674 GIP gastric inhibitory polypeptide gene DOID:11612 polycystic ovary syndrome ISO RGD:1353884 D RGD:9068941 20200609 RGD associated with Obesity; protein:increased expression:plasma (human) PMID:19375579|REF_RGD_ID:2312588 12109674 GIP gastric inhibitory polypeptide gene DOID:1459 hypothyroidism ISO RGD:2709 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:9030821|REF_RGD_ID:2312549 12109674 GIP gastric inhibitory polypeptide gene DOID:2018 hyperinsulinism ISO RGD:2709 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (rat) PMID:8059006|REF_RGD_ID:2312550 12109674 GIP gastric inhibitory polypeptide gene DOID:26 pancreas disease ISO RGD:2709 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:3892654|REF_RGD_ID:2312553 12109674 GIP gastric inhibitory polypeptide gene DOID:4195 hyperglycemia ISO RGD:1353884 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human) PMID:19174495|REF_RGD_ID:2312590 12109674 GIP gastric inhibitory polypeptide gene DOID:630 genetic disease ISO RGD:1353884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109674 GIP gastric inhibitory polypeptide gene DOID:9001109 Anorexia ISO RGD:1353884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28633506|PMID:28666375|PMID:29689362 12109674 GIP gastric inhibitory polypeptide gene DOID:9005587 Starvation ISO RGD:2709 D RGD:9068941 20200609 RGD protein:increased expression:duodenum, jejunum (rat) PMID:6140913|REF_RGD_ID:2312554 12109674 GIP gastric inhibitory polypeptide gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2709 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (rat) PMID:12789546|REF_RGD_ID:2312548 12109674 GIP gastric inhibitory polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353884 D RGD:9068941 20200609 RGD PMID:19473824|REF_RGD_ID:2312587 12109674 GIP gastric inhibitory polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353884 D RGD:9068941 20200609 RGD disease in rat treated with human protein PMID:19126188|REF_RGD_ID:2312591 12109674 GIP gastric inhibitory polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:1552008 D RGD:9068941 20200609 RGD PMID:18937625|REF_RGD_ID:2312589 12109674 GIP gastric inhibitory polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:2709 D RGD:9068941 20200609 RGD PMID:19056762|REF_RGD_ID:2312529 12109674 GIP gastric inhibitory polypeptide gene DOID:9970 obesity ISO RGD:1353884 D RGD:9068941 20200609 RGD PMID:3546047|REF_RGD_ID:2312551 12109674 GIP gastric inhibitory polypeptide gene DOID:9970 obesity ISO RGD:1353884 D RGD:9068941 20200609 RGD associated with Polycystic Ovary Syndrome; protein:increased expression:plasma (human) PMID:19375579|REF_RGD_ID:2312588 12109674 GIP gastric inhibitory polypeptide gene DOID:9970 obesity ISO RGD:2709 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:18063845|REF_RGD_ID:2312547 12109684 MIR181A-1 microRNA mir-181a-1 gene DOID:1540 parathyroid carcinoma ISO RGD:1351132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12109684 MIR181A-1 microRNA mir-181a-1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1351132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 12109684 MIR181A-1 microRNA mir-181a-1 gene DOID:9206 Barrett's esophagus ISO RGD:1351132 D RGD:9068941 20220825 RGD miRNA:increased expression:esophagus (human) PMID:29906417|REF_RGD_ID:153344526 12109684 MIR181A-1 microRNA mir-181a-1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12109687 MIR127 microRNA mir-127 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1344992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 12109687 MIR127 microRNA mir-127 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1344992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12109687 MIR127 microRNA mir-127 gene DOID:1324 lung cancer ISO RGD:1608343 D RGD:9068941 20220715 RGD RNA:increased expression:lung (human) PMID:20237410|REF_RGD_ID:152995484 12109687 MIR127 microRNA mir-127 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1344992 D RGD:9068941 20220616 RGD RNA:decreased expression:esophagus (human) PMID:27645894|REF_RGD_ID:152995354 12109687 MIR127 microRNA mir-127 gene DOID:3910 lung adenocarcinoma treatment ISO RGD:1344992 D RGD:9068941 20220616 RGD Human cells in mouse model PMID:27869168|REF_RGD_ID:152995353 12109687 MIR127 microRNA mir-127 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1344992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12109687 MIR127 microRNA mir-127 gene DOID:684 hepatocellular carcinoma ISO RGD:1344992 D RGD:9068941 20220616 RGD miRNA:decreased expression:liver (human) PMID:24854842|REF_RGD_ID:152995355 12109687 MIR127 microRNA mir-127 gene DOID:9005172 Lung Neoplasms ISO RGD:1344992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12109687 MIR127 microRNA mir-127 gene DOID:9007787 Carcinoid Tumor ISO RGD:1344992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12109687 MIR127 microRNA mir-127 gene DOID:9008939 Breast Neoplasms ISO RGD:1344992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 12109687 MIR127 microRNA mir-127 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12109691 ANGPTL3 angiopoietin like 3 gene DOID:0080415 developmental and epileptic encephalopathy 23 ISO RGD:1346260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 PMID:24814191|PMID:28492532 12109691 ANGPTL3 angiopoietin like 3 gene DOID:0111061 familial hypobetalipoproteinemia 2 ISO RGD:1346260 D RGD:7240710 20180130 OMIM 12109691 ANGPTL3 angiopoietin like 3 gene DOID:0111061 familial hypobetalipoproteinemia 2 ISO RGD:1346260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 PMID:19075393|PMID:20942659|PMID:22062970|PMID:22247256|PMID:28492532|PMID:32041611 12109691 ANGPTL3 angiopoietin like 3 gene DOID:1059 intellectual disability ISO RGD:1346260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12109691 ANGPTL3 angiopoietin like 3 gene DOID:630 genetic disease ISO RGD:1346260 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:32041611 12109691 ANGPTL3 angiopoietin like 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12109691 ANGPTL3 angiopoietin like 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1557682 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:15094378|REF_RGD_ID:2314234 12109691 ANGPTL3 angiopoietin like 3 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1557682 D RGD:9068941 20200609 RGD PMID:12672813|REF_RGD_ID:1578347 12109691 ANGPTL3 angiopoietin like 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1557682 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:15094378|REF_RGD_ID:2314234 12109736 FTCDNL1 formiminotransferase cyclodeaminase N-terminal like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:7245836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12109750 AKAP8 A-kinase anchoring protein 8 gene DOID:2843 long QT syndrome ISO RGD:731444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12109750 AKAP8 A-kinase anchoring protein 8 gene DOID:630 genetic disease ISO RGD:731444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109766 BBOX1 gamma-butyrobetaine hydroxylase 1 gene DOID:1059 intellectual disability ISO RGD:732171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12109766 BBOX1 gamma-butyrobetaine hydroxylase 1 gene DOID:630 genetic disease ISO RGD:732171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109766 BBOX1 gamma-butyrobetaine hydroxylase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732171 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12109781 RPE ribulose-5-phosphate-3-epimerase gene DOID:14557 primary pulmonary hypertension ISO RGD:1320609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12109781 RPE ribulose-5-phosphate-3-epimerase gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1320609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12109781 RPE ribulose-5-phosphate-3-epimerase gene DOID:630 genetic disease ISO RGD:1320609 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109781 RPE ribulose-5-phosphate-3-epimerase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12109797 FYB1 FYN binding protein 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1603714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 12109797 FYB1 FYN binding protein 1 gene DOID:630 genetic disease ISO RGD:1603714 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109797 FYB1 FYN binding protein 1 gene DOID:9002574 Thrombocytopenia 3 ISO RGD:1603714 D RGD:7240710 20190315 OMIM 12109797 FYB1 FYN binding protein 1 gene DOID:9002574 Thrombocytopenia 3 ISO RGD:1603714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 3 PMID:25741868|PMID:25876182 12109797 FYB1 FYN binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12109856 CBLIF cobalamin binding intrinsic factor gene DOID:0050734 congenital intrinsic factor deficiency ISO RGD:735662 D RGD:7240710 20180130 OMIM 12109856 CBLIF cobalamin binding intrinsic factor gene DOID:0050734 congenital intrinsic factor deficiency ISO RGD:735662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital intrinsic factor deficiency | ClinVar Annotator: match by term: Hereditary intrinsic factor deficiency PMID:14576042|PMID:14695536|PMID:15738392|PMID:16199547|PMID:17576681|PMID:19036097|PMID:20408840|PMID:21867658|PMID:22854512|PMID:22929189|PMID:24033266|PMID:25308559|PMID:25640679|PMID:25741868|PMID:27577878|PMID:28492532|PMID:9536098 12109856 CBLIF cobalamin binding intrinsic factor gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12109856 CBLIF cobalamin binding intrinsic factor gene DOID:1059 intellectual disability ISO RGD:735662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12109856 CBLIF cobalamin binding intrinsic factor gene DOID:10808 gastric ulcer ISO RGD:735662 D RGD:9068941 20200609 RGD associated with Polycythemia; mRNA:decreased expression:gastric mucosa: PMID:26485402|REF_RGD_ID:11049581 12109856 CBLIF cobalamin binding intrinsic factor gene DOID:13381 pernicious anemia ISO RGD:735662 D RGD:9068941 20200609 RGD PMID:167441|PMID:4434116|REF_RGD_ID:11049584|REF_RGD_ID:11049587 12109856 CBLIF cobalamin binding intrinsic factor gene DOID:4029 gastritis ISO RGD:62084 D RGD:9068941 20200609 RGD PMID:1097299|REF_RGD_ID:11049585 12109856 CBLIF cobalamin binding intrinsic factor gene DOID:5419 schizophrenia ISO RGD:735662 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12109856 CBLIF cobalamin binding intrinsic factor gene DOID:9006481 Imerslund-Grasbeck Syndrome 1 ISO RGD:735662 D RGD:9068941 20200609 RGD DNA:polymorphisms, missense mutations, splice sites:exon,intron: PMID:15738392|REF_RGD_ID:11049583 12109856 CBLIF cobalamin binding intrinsic factor gene DOID:9006481 Imerslund-Grasbeck Syndrome 1 ISO RGD:735662 D RGD:9068941 20200609 RGD protein:increased excretion:urine: PMID:10435666|REF_RGD_ID:11049586 12109869 NFIB nuclear factor I B gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:733820 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:25741868 12109869 NFIB nuclear factor I B gene DOID:0060041 autism spectrum disorder ISO RGD:733820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12109869 NFIB nuclear factor I B gene DOID:0080202 adenoid cystic carcinoma ISO RGD:733820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12109869 NFIB nuclear factor I B gene DOID:5419 schizophrenia ISO RGD:733820 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12109869 NFIB nuclear factor I B gene DOID:630 genetic disease ISO RGD:733820 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12109869 NFIB nuclear factor I B gene DOID:9002787 MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT ISO RGD:733820 D RGD:7240710 20201216 OMIM 12109869 NFIB nuclear factor I B gene DOID:9002787 MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT ISO RGD:733820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macrocephaly, acquired, with impaired intellectual development PMID:25741868|PMID:28492532|PMID:30388402 12109869 NFIB nuclear factor I B gene DOID:9003816 Macrocephaly ISO RGD:733820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868|PMID:30388402 12109869 NFIB nuclear factor I B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12109869 NFIB nuclear factor I B gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:733820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:30388402 12109905 DCXR dicarbonyl and L-xylulose reductase gene DOID:0111258 pentosuria ISO RGD:733826 D RGD:7240710 20180130 OMIM 12109905 DCXR dicarbonyl and L-xylulose reductase gene DOID:0111258 pentosuria ISO RGD:733826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential pentosuria PMID:22042873 12109905 DCXR dicarbonyl and L-xylulose reductase gene DOID:630 genetic disease ISO RGD:733826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109905 DCXR dicarbonyl and L-xylulose reductase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12109905 DCXR dicarbonyl and L-xylulose reductase gene DOID:9002304 Prostatic Neoplasms ISO RGD:733826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12109905 DCXR dicarbonyl and L-xylulose reductase gene DOID:9970 obesity ISO RGD:733826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12109916 PUM3 pumilio RNA binding family member 3 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1318702 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12109916 PUM3 pumilio RNA binding family member 3 gene DOID:630 genetic disease ISO RGD:1318702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109938 ATAT1 alpha tubulin acetyltransferase 1 gene DOID:11372 megacolon ISO RGD:1347627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12109938 ATAT1 alpha tubulin acetyltransferase 1 gene DOID:630 genetic disease ISO RGD:1347627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109938 ATAT1 alpha tubulin acetyltransferase 1 gene DOID:9002189 High Myopia ISO RGD:1347627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12109938 ATAT1 alpha tubulin acetyltransferase 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1347627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:736450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:0050908 myelodysplastic syndrome ISO RGD:736450 D RGD:9068941 20200609 RGD PMID:24264604|REF_RGD_ID:11352253 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:0060901 lymphoplasmacytic lymphoma disease_progression ISO RGD:736450 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:21564078|REF_RGD_ID:11040774 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:0060901 lymphoplasmacytic lymphoma treatment ISO RGD:736450 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.F158V (rs396991) (human) PMID:15659493|REF_RGD_ID:11352262 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:736450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:0081267 graft-versus-host disease ISO RGD:736450 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p. V158F(rs396991)(human) PMID:20400988|REF_RGD_ID:11040884 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:0111941 immunodeficiency 20 ISO RGD:736450 D RGD:7240710 20180130 OMIM 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:0111941 immunodeficiency 20 ISO RGD:736450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity PMID:23006327|PMID:24033266|PMID:25741868|PMID:8608639|PMID:8609432|PMID:8874200 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:1037 lymphoid leukemia no_association ISO RGD:736450 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.F158V (rs396991) (human) PMID:15217834|REF_RGD_ID:11344968 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:10608 celiac disease ISO RGD:736450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:10952 nephritis ISO RGD:1550776 D RGD:9068941 20200609 RGD PMID:16520389|REF_RGD_ID:5508402 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:11832 visual epilepsy susceptibility ISO RGD:736450 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.V158F (human) PMID:17596285|REF_RGD_ID:5508454 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:1205 allergic disease treatment ISO RGD:736450 D RGD:9068941 20200609 RGD associated with Purpura, Thrombocytopenic, Idiopathic PMID:22025730|REF_RGD_ID:11352264 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:13241 Behcet's disease susceptibility ISO RGD:736450 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.F158V (rs396991)(human) PMID:19026120|REF_RGD_ID:5508432 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:13375 temporal arteritis ISO RGD:736450 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:16846526|REF_RGD_ID:5147974 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:1389 polyneuropathy treatment ISO RGD:736450 D RGD:9068941 20200609 RGD associated with Monoclonal Gammopathy of Undetermined Significance;DNA:SNP:exon:p.F158V (rs396991) (human) PMID:24487381|REF_RGD_ID:11352254 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:1540 parathyroid carcinoma ISO RGD:736450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:1587 thrombocytopenia due to platelet alloimmunization treatment ISO RGD:736450 D RGD:9068941 20200609 RGD DNA:SNP:cds: PMID:22775462|REF_RGD_ID:11040770 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:2377 multiple sclerosis disease_progression ISO RGD:736450 D RGD:9068941 20200609 RGD protein:increased expression:gamma-delta T cell PMID:18155780|REF_RGD_ID:5508375 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:2841 asthma susceptibility ISO RGD:736450 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.F158V(rs396991)(human) PMID:18199088|REF_RGD_ID:5508449 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:2921 glomerulonephritis ISO RGD:1550776 D RGD:9068941 20200609 RGD PMID:19050295|REF_RGD_ID:5508439 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:2921 glomerulonephritis susceptibility ISO RGD:736450 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.V158F (human) PMID:17596285|REF_RGD_ID:5508454 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:736450 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.F176V(human) PMID:16221721|REF_RGD_ID:5508463 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:3393 coronary artery disease susceptibility ISO RGD:736450 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.F158V (rs396991)(human) PMID:15910853|REF_RGD_ID:5508464 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:4481 allergic rhinitis susceptibility ISO RGD:736450 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.F158V(rs396991)(human) PMID:18199088|REF_RGD_ID:5508449 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:736450 D RGD:9068941 20200609 RGD DNA:cnv: : PMID:19946017|REF_RGD_ID:5508400 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:4780 anti-basement membrane glomerulonephritis no_association ISO RGD:736450 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:(rs396991)(human) PMID:19640933|REF_RGD_ID:5508403 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:736450 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.F158V(rs396991)(human) PMID:21187939|REF_RGD_ID:5508390 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:552 pneumonia treatment ISO RGD:736450 D RGD:9068941 20200609 RGD associated with Hodgkin Disease;DNA:SNP:exon:p.F158V (rs396991) (human) PMID:20423913|REF_RGD_ID:11352258 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:614 lymphopenia susceptibility ISO RGD:736450 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.V158F (human) PMID:17596285|REF_RGD_ID:5508454 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:630 genetic disease ISO RGD:736450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:633 myositis susceptibility ISO RGD:736450 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.F158V (rs396991)(human) PMID:19493236|REF_RGD_ID:5508428 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:7147 ankylosing spondylitis severity ISO RGD:736450 D RGD:9068941 20200609 RGD protein:decreased expression:polymorphonuclear leucocyte PMID:8453794|REF_RGD_ID:5508388 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:7148 rheumatoid arthritis ISO RGD:736450 D RGD:9068941 20200609 RGD DNA:CNVs PMID:25154742|REF_RGD_ID:11344974 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:7148 rheumatoid arthritis ISO RGD:736450 D RGD:9068941 20200609 RGD protein:decreased expression:NK cell PMID:15334114|REF_RGD_ID:5508467 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:736450 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.F158V(rs396991)(human) PMID:19019892|REF_RGD_ID:5508391 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:848 arthritis ISO RGD:736450 D RGD:9068941 20200609 RGD DNA:SNP:exon:F158V (rs396991)(human) PMID:19005160|REF_RGD_ID:5508443 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:848 arthritis susceptibility ISO RGD:736450 D RGD:9068941 20200609 RGD associated with Behcet Syndrome; DNA:SNP:exon:p.F158V (rs396991)(human) PMID:19026120|REF_RGD_ID:5508432 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:8778 Crohn's disease treatment ISO RGD:736450 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.F158V (rs396991) (human) PMID:14987319|REF_RGD_ID:1304543 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:736450 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.V158F(human) PMID:11380443|REF_RGD_ID:11040776 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:8924 autoimmune thrombocytopenic purpura susceptibility ISO RGD:736450 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.F158V (rs396991) (human) PMID:22123287|REF_RGD_ID:11040989 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1332447 D RGD:9068941 20200609 RGD PMID:15479722|REF_RGD_ID:11344926 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:736450 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.F158V (rs396991) (human) PMID:23484707|REF_RGD_ID:11352255 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia no_association ISO RGD:736450 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.F158V (rs396991) (human) PMID:14563637|REF_RGD_ID:11352260 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia treatment ISO RGD:736450 D RGD:9068941 20200609 RGD associated with Lymphoma, Large B-Cell, Diffuse;DNA:SNP: :rs396991 (human) PMID:27282998|REF_RGD_ID:11344967 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:9004486 Drug-induced Neutropenia ISO RGD:736450 D RGD:9068941 20200609 RGD associated with Lymphoma, B-Cell;DNA:polymorphism: :p.V158F (human) PMID:20730791|REF_RGD_ID:11352256 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:9004486 Drug-induced Neutropenia ISO RGD:736450 D RGD:9068941 20200609 RGD associated with Lymphoma, Large B-Cell, Diffuse;DNA:polymorphism: :p.V158F (human) PMID:21883784|REF_RGD_ID:11344964 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:9004486 Drug-induced Neutropenia ISO RGD:736450 D RGD:9068941 20200609 RGD associated with Non-Hodgkin lymphoma;DNA:polymorphism: :p.V158F (human) PMID:19933905|REF_RGD_ID:11344973 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:9004792 Familial Mixed Cryoglobulinemia treatment ISO RGD:736450 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V176F (human) PMID:21538321|REF_RGD_ID:11344956 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:9005125 Lupus Vasculitis, Central Nervous System ISO RGD:736450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26773105 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:9008208 Heparin-induced Thrombocytopenia susceptibility ISO RGD:736450 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.V158F(human) PMID:15191947|REF_RGD_ID:11040991 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:9008765 Malarial Anemia severity ISO RGD:736450 D RGD:9068941 20200609 RGD PMID:20231419|REF_RGD_ID:11040771 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:9008765 Malarial Anemia susceptibility ISO RGD:736450 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.F176V (human) PMID:23045477|REF_RGD_ID:11344971 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:9009008 Temporomandibular Joint Dysfunction Syndrome ISO RGD:1303067 D RGD:9068941 20200609 RGD PMID:20589683|REF_RGD_ID:5508377 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:9074 systemic lupus erythematosus ISO RGD:736450 D RGD:9068941 20200609 RGD DNA:CNVs PMID:25154742|REF_RGD_ID:11344974 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:9074 systemic lupus erythematosus ISO RGD:736450 D RGD:9068941 20200609 RGD protein:decreased expression:NK cell PMID:21370226|REF_RGD_ID:5508389 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:736450 D RGD:9068941 20200609 RGD DNA:SNPs:exon:rs403016,rs428888(human) PMID:18625651|REF_RGD_ID:5508444 12109973 LOC478984 low affinity immunoglobulin gamma Fc region receptor III gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12109990 DNAI4 dynein axonemal intermediate chain 4 gene DOID:1059 intellectual disability ISO RGD:1605635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12109990 DNAI4 dynein axonemal intermediate chain 4 gene DOID:630 genetic disease ISO RGD:1605635 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110011 HOOK1 hook microtubule tethering protein 1 gene DOID:1059 intellectual disability ISO RGD:1320626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12110011 HOOK1 hook microtubule tethering protein 1 gene DOID:630 genetic disease ISO RGD:1320626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110037 PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:0060439 lysinuric protein intolerance ISO RGD:1322394 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12110037 PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:0080600 COVID-19 ISO RGD:1322394 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12110037 PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1322394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12110037 PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:9000265 Specific Granule Deficiency ISO RGD:1322394 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12110037 PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:9000520 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial ISO RGD:1322394 D RGD:7240710 20190306 OMIM 12110037 PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:9000520 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial ISO RGD:1322394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PCK2-related neuropathy | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial PMID:24033266|PMID:25741868|PMID:28492532 12110037 PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12110037 PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:9002669 Hypoxia ISO RGD:1322394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18258771 12110037 PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1322394 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12110037 PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:9005930 Endotoxemia ISO RGD:1311112 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression,decreased activity:liver: PMID:19268478|REF_RGD_ID:10427879 12110050 KCNK9 potassium two pore domain channel subfamily K member 9 gene DOID:0050675 Birk-Barel syndrome ISO RGD:734260 D RGD:7240710 20180130 OMIM 12110050 KCNK9 potassium two pore domain channel subfamily K member 9 gene DOID:0050675 Birk-Barel syndrome ISO RGD:734260 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Birk-Barel Intellectual Disability Dysmorphism Syndrome | ClinVar Annotator: match by term: Birk-Barel syndrome PMID:18678320|PMID:23236211|PMID:25326635|PMID:25741868|PMID:27151206|PMID:28333430|PMID:28882594|PMID:29165669|PMID:30690205|PMID:35698242 12110050 KCNK9 potassium two pore domain channel subfamily K member 9 gene DOID:0060041 autism spectrum disorder ISO RGD:734260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12110050 KCNK9 potassium two pore domain channel subfamily K member 9 gene DOID:1825 childhood absence epilepsy ISO RGD:734260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15781965 12110050 KCNK9 potassium two pore domain channel subfamily K member 9 gene DOID:630 genetic disease ISO RGD:734260 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10734076|PMID:25326635|PMID:25741868|PMID:29165669|PMID:35698242 12110050 KCNK9 potassium two pore domain channel subfamily K member 9 gene DOID:9008582 Developmental Disease ISO RGD:734260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12110056 SLC39A2 solute carrier family 39 member 2 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1314826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12110056 SLC39A2 solute carrier family 39 member 2 gene DOID:630 genetic disease ISO RGD:1314826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110056 SLC39A2 solute carrier family 39 member 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314826 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12110069 RAB19 RAB19, member RAS oncogene family gene DOID:0080690 RASopathy ISO RGD:1604143 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12110069 RAB19 RAB19, member RAS oncogene family gene DOID:11193 syndactyly ISO RGD:1604143 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Non-syndromic syndactyly PMID:25741868 12110069 RAB19 RAB19, member RAS oncogene family gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12110069 RAB19 RAB19, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1604143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110080 DNAJC2 DnaJ heat shock protein family (Hsp40) member C2 gene DOID:0060902 Norman-Roberts syndrome ISO RGD:733241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:10973257|PMID:17124408|PMID:26046367|PMID:28454995|PMID:28492532 12110080 DNAJC2 DnaJ heat shock protein family (Hsp40) member C2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12110080 DNAJC2 DnaJ heat shock protein family (Hsp40) member C2 gene DOID:630 genetic disease ISO RGD:733241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110103 KMT5B lysine methyltransferase 5B gene DOID:0060041 autism spectrum disorder ISO RGD:1348608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:25363768|PMID:25741868|PMID:28191889|PMID:30504930 12110103 KMT5B lysine methyltransferase 5B gene DOID:0080074 neural tube defect ISO RGD:1348608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:25741868|PMID:29276005 12110103 KMT5B lysine methyltransferase 5B gene DOID:0080232 autosomal dominant intellectual developmental disorder 51 ISO RGD:1348608 D RGD:7240710 20190315 OMIM 12110103 KMT5B lysine methyltransferase 5B gene DOID:0080232 autosomal dominant intellectual developmental disorder 51 ISO RGD:1348608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 51 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 PMID:25363768|PMID:25741868|PMID:28191889|PMID:29276005|PMID:30504930 12110103 KMT5B lysine methyltransferase 5B gene DOID:1059 intellectual disability ISO RGD:1348608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12110103 KMT5B lysine methyltransferase 5B gene DOID:5419 schizophrenia ISO RGD:1348608 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12110103 KMT5B lysine methyltransferase 5B gene DOID:630 genetic disease ISO RGD:1348608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110103 KMT5B lysine methyltransferase 5B gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1348608 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12110103 KMT5B lysine methyltransferase 5B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12110103 KMT5B lysine methyltransferase 5B gene DOID:9005466 Language Development Disorders ISO RGD:1348608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Language retardation 12110103 KMT5B lysine methyltransferase 5B gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1348608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12110103 KMT5B lysine methyltransferase 5B gene DOID:9008086 Developmental Disabilities ISO RGD:1348608 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12110124 DPP8 dipeptidyl peptidase 8 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1322072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12110124 DPP8 dipeptidyl peptidase 8 gene DOID:2717 Bloom syndrome ISO RGD:1322072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12110124 DPP8 dipeptidyl peptidase 8 gene DOID:630 genetic disease ISO RGD:1322072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110124 DPP8 dipeptidyl peptidase 8 gene DOID:9256 colorectal cancer ISO RGD:1322072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 12110157 SNX33 sorting nexin 33 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1603528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 12110157 SNX33 sorting nexin 33 gene DOID:1826 epilepsy ISO RGD:1603528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12110157 SNX33 sorting nexin 33 gene DOID:2717 Bloom syndrome ISO RGD:1603528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12110157 SNX33 sorting nexin 33 gene DOID:5419 schizophrenia ISO RGD:1603528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12110157 SNX33 sorting nexin 33 gene DOID:630 genetic disease ISO RGD:1603528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110157 SNX33 sorting nexin 33 gene DOID:9256 colorectal cancer ISO RGD:1603528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12110163 TIGIT T cell immunoreceptor with Ig and ITIM domains gene DOID:630 genetic disease ISO RGD:1606681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110171 H2BC11 H2B clustered histone 11 gene DOID:630 genetic disease ISO RGD:1348596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110176 LOC488622 myeloid cell nuclear differentiation antigen gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1344171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12110176 LOC488622 myeloid cell nuclear differentiation antigen gene DOID:1540 parathyroid carcinoma ISO RGD:1344171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12110176 LOC488622 myeloid cell nuclear differentiation antigen gene DOID:630 genetic disease ISO RGD:1344171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110176 LOC488622 myeloid cell nuclear differentiation antigen gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1557521 D RGD:9068941 20201008 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12110176 LOC488622 myeloid cell nuclear differentiation antigen gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12110212 LOC488951 zinc finger protein 37A gene DOID:630 genetic disease ISO RGD:1352896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110229 GRAMD1B GRAM domain containing 1B gene DOID:1059 intellectual disability ISO RGD:1606522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 12110229 GRAMD1B GRAM domain containing 1B gene DOID:5419 schizophrenia ISO RGD:1606522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12110229 GRAMD1B GRAM domain containing 1B gene DOID:630 genetic disease ISO RGD:1606522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110229 GRAMD1B GRAM domain containing 1B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12110229 GRAMD1B GRAM domain containing 1B gene DOID:9007661 Dwarfism ISO RGD:1606522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12110271 AXIN1 axin 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:736564 D RGD:9068941 20211217 RGD mRNA:increased expression:oral epithelium (human) PMID:21393552|REF_RGD_ID:150530486 12110271 AXIN1 axin 1 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:736564 D RGD:9068941 20211210 RGD protein:decreased expression:oral epithelium (human) PMID:17143481|REF_RGD_ID:150530474 12110271 AXIN1 axin 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736564 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12110271 AXIN1 axin 1 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:736564 D RGD:9068941 20211210 RGD DNA:SNPs:5'utr: (rs12921862, rs1805105, rs370681) (human) PMID:31143301|REF_RGD_ID:150527861 12110271 AXIN1 axin 1 gene DOID:1324 lung cancer disease_progression ISO RGD:736564 D RGD:9068941 20211210 RGD DNA:hypermethylation PMID:23192643|REF_RGD_ID:150527862 12110271 AXIN1 axin 1 gene DOID:1324 lung cancer disease_progression ISO RGD:736564 D RGD:9068941 20211210 RGD protein:decreased expression:lung (human) PMID:21496867|REF_RGD_ID:150530293 12110271 AXIN1 axin 1 gene DOID:1324 lung cancer treatment ISO RGD:736564 D RGD:9068941 20211210 RGD human cells in mouse model PMID:23915259|PMID:32051824|REF_RGD_ID:150530274|REF_RGD_ID:150530284 12110271 AXIN1 axin 1 gene DOID:1826 epilepsy ISO RGD:736564 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 12110271 AXIN1 axin 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736564 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12110271 AXIN1 axin 1 gene DOID:219 colon cancer treatment ISO RGD:620859 D RGD:9068941 20211210 RGD PMID:28032729|REF_RGD_ID:150530464 12110271 AXIN1 axin 1 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:736564 D RGD:9068941 20211210 RGD protein:decreased expression:esophagus (human) PMID:12771989|REF_RGD_ID:150530473 12110271 AXIN1 axin 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:736564 D RGD:9068941 20211210 RGD protein:decreased expression:lung (human) PMID:19735876|REF_RGD_ID:150530290 12110271 AXIN1 axin 1 gene DOID:5082 liver cirrhosis ISO RGD:736564 D RGD:9068941 20211217 RGD protein:decreased expression:liver (human) PMID:31514071|REF_RGD_ID:150530482 12110271 AXIN1 axin 1 gene DOID:630 genetic disease ISO RGD:736564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110271 AXIN1 axin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736564 D RGD:7240710 20180130 OMIM 12110271 AXIN1 axin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736564 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:10700176|PMID:25741868|PMID:28492532 12110271 AXIN1 axin 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736564 D RGD:9068941 20211210 RGD associated with Hepatitis B, Chronic,DNA:SNP, haplotype:exon:(rs1805105) T>C (human) PMID:26968103|REF_RGD_ID:14402039 12110271 AXIN1 axin 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736564 D RGD:9068941 20211217 RGD protein:decreased expression:liver (human) PMID:31514071|REF_RGD_ID:150530482 12110271 AXIN1 axin 1 gene DOID:9002004 Caudal Duplication Anomaly ISO RGD:736564 D RGD:7240710 20180130 OMIM 12110271 AXIN1 axin 1 gene DOID:9002004 Caudal Duplication Anomaly ISO RGD:736564 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Caudal duplication anomaly PMID:25741868|PMID:28492532 12110287 GATA6 GATA binding protein 6 gene DOID:0050651 atrioventricular septal defect ISO RGD:735650 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12110287 GATA6 GATA binding protein 6 gene DOID:0050861 colorectal adenocarcinoma severity ISO RGD:735650 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:24452072|REF_RGD_ID:13208874 12110287 GATA6 GATA binding protein 6 gene DOID:0050877 pancreatic agenesis ISO RGD:735650 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158542 12110287 GATA6 GATA binding protein 6 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:735650 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 12110287 GATA6 GATA binding protein 6 gene DOID:0110114 atrial heart septal defect 9 ISO RGD:735650 D RGD:7240710 20180130 OMIM 12110287 GATA6 GATA binding protein 6 gene DOID:0110114 atrial heart septal defect 9 ISO RGD:735650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect 9 PMID:20631719|PMID:25741868|PMID:28492532 12110287 GATA6 GATA binding protein 6 gene DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome ISO RGD:735650 D RGD:7240710 20180130 OMIM 12110287 GATA6 GATA binding protein 6 gene DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome ISO RGD:735650 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome PMID:19666519|PMID:20581743|PMID:22158542|PMID:22962692|PMID:24385578|PMID:25741868|PMID:31006513|PMID:8071961 12110287 GATA6 GATA binding protein 6 gene DOID:1059 intellectual disability ISO RGD:735650 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12110287 GATA6 GATA binding protein 6 gene DOID:1657 ventricular septal defect ISO RGD:735650 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D404Y (human) PMID:23020118|REF_RGD_ID:13208873 12110287 GATA6 GATA binding protein 6 gene DOID:1657 ventricular septal defect ISO RGD:735650 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G220S (human) PMID:22407241|REF_RGD_ID:13208872 12110287 GATA6 GATA binding protein 6 gene DOID:1682 congenital heart disease ISO RGD:735650 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.S184N (human) PMID:20631719|REF_RGD_ID:13208832 12110287 GATA6 GATA binding protein 6 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:2666 D RGD:9068941 20220512 RGD mRNA:decreased expression:heart (rat) PMID:18280291|REF_RGD_ID:9068407 12110287 GATA6 GATA binding protein 6 gene DOID:4927 Klatskin's tumor sexual_dimorphism ISO RGD:735650 D RGD:9068941 20210430 RGD DNA:mutations PMID:33387086|REF_RGD_ID:126848756 12110287 GATA6 GATA binding protein 6 gene DOID:630 genetic disease ISO RGD:735650 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27756709|PMID:28492532|PMID:28518168|PMID:28659821|PMID:32461654 12110287 GATA6 GATA binding protein 6 gene DOID:6419 tetralogy of Fallot ISO RGD:735650 D RGD:7240710 20180130 OMIM 12110287 GATA6 GATA binding protein 6 gene DOID:6419 tetralogy of Fallot ISO RGD:735650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:20581743|PMID:20631719|PMID:25741868|PMID:28492532|PMID:29389947 12110287 GATA6 GATA binding protein 6 gene DOID:6432 pulmonary hypertension ISO RGD:2666 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:19842842|REF_RGD_ID:2314194 12110287 GATA6 GATA binding protein 6 gene DOID:6432 pulmonary hypertension ISO RGD:735650 D RGD:9068941 20200609 RGD protein:decreased expression:lung, arteriole, venule (human) PMID:23583651|REF_RGD_ID:13208869 12110287 GATA6 GATA binding protein 6 gene DOID:6432 pulmonary hypertension ISO RGD:735651 D RGD:9068941 20200609 RGD PMID:23583651|REF_RGD_ID:13208869 12110287 GATA6 GATA binding protein 6 gene DOID:674 cleft palate ISO RGD:735651 D RGD:9068941 20200609 RGD protein:decreased expression:secondary palatal shelf (mouse) PMID:27391658|REF_RGD_ID:13208933 12110287 GATA6 GATA binding protein 6 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:735650 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:22158542|PMID:24385578|PMID:25741868 12110287 GATA6 GATA binding protein 6 gene DOID:9003397 Atrioventricular Septal Defect 5 ISO RGD:735650 D RGD:7240710 20180130 OMIM 12110287 GATA6 GATA binding protein 6 gene DOID:9003397 Atrioventricular Septal Defect 5 ISO RGD:735650 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect 5 PMID:17576681|PMID:18414213|PMID:19666519|PMID:20581743|PMID:20631719|PMID:22158542|PMID:22318994|PMID:22750565|PMID:23223019|PMID:24310933|PMID:25706805|PMID:25741868|PMID:27756709|PMID:28381408|PMID:28492532|PMID:28518168|PMID:28659821|PMID:28991257|PMID:29101065|PMID:31264968|PMID:31271559|PMID:32461654|PMID:9536098 12110287 GATA6 GATA binding protein 6 gene DOID:9003752 Persistent Truncus Arteriosus ISO RGD:735650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Persistent truncus arteriosus PMID:19666519 12110287 GATA6 GATA binding protein 6 gene DOID:9005172 Lung Neoplasms ISO RGD:735650 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16271038 12110287 GATA6 GATA binding protein 6 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735650 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31190750 12110287 GATA6 GATA binding protein 6 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:735650 D RGD:7240710 20180530 OMIM 12110287 GATA6 GATA binding protein 6 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:735650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:25741868|PMID:28492532 12110287 GATA6 GATA binding protein 6 gene DOID:9007908 Aortic Coarctation ISO RGD:735650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Midaortic syndrome PMID:29483232 12110287 GATA6 GATA binding protein 6 gene DOID:9008217 Hemorrhage ISO RGD:735650 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31190750 12110287 GATA6 GATA binding protein 6 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:735650 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18280291 12110287 GATA6 GATA binding protein 6 gene DOID:9206 Barrett's esophagus disease_progression ISO RGD:735650 D RGD:9068941 20200609 RGD protein:increased expression: esophagus squamous epithelium (human) PMID:25445407|REF_RGD_ID:13208870 12110287 GATA6 GATA binding protein 6 gene DOID:9351 diabetes mellitus ISO RGD:735650 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18414213|PMID:20581743|PMID:22158542|PMID:23223019|PMID:24310933|PMID:25706805|PMID:25741868|PMID:28492532|PMID:31271559 12110287 GATA6 GATA binding protein 6 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735650 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus PMID:22158542|PMID:23223019|PMID:25706805|PMID:25741868|PMID:28492532|PMID:31271559 12110299 SH3YL1 SH3 and SYLF domain containing 1 gene DOID:630 genetic disease ISO RGD:1315058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110318 MASTL microtubule associated serine/threonine kinase like gene DOID:1588 thrombocytopenia ISO RGD:1319386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532 12110318 MASTL microtubule associated serine/threonine kinase like gene DOID:630 genetic disease ISO RGD:1319386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110318 MASTL microtubule associated serine/threonine kinase like gene DOID:9003390 Thrombocytopenia 2 ISO RGD:1319386 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 2 PMID:10891439|PMID:12890928|PMID:19460416|PMID:22102272|PMID:25741868|PMID:28492532 12110318 MASTL microtubule associated serine/threonine kinase like gene DOID:9005280 Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities ISO RGD:1319386 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities PMID:25741868 12110338 PADI1 peptidyl arginine deiminase 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1344006 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12110338 PADI1 peptidyl arginine deiminase 1 gene DOID:630 genetic disease ISO RGD:1344006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110358 CENPM centromere protein M gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12110358 CENPM centromere protein M gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1316428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 12110358 CENPM centromere protein M gene DOID:1059 intellectual disability ISO RGD:1316428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12110358 CENPM centromere protein M gene DOID:630 genetic disease ISO RGD:1316428 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110358 CENPM centromere protein M gene DOID:684 hepatocellular carcinoma ISO RGD:1316428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12110373 PLEKHS1 pleckstrin homology domain containing S1 gene DOID:10603 glucose intolerance ISO RGD:1559884 D RGD:9068941 20200609 RGD associated with obesity; PMID:27523322|REF_RGD_ID:11532750 12110373 PLEKHS1 pleckstrin homology domain containing S1 gene DOID:14566 disease of cellular proliferation ISO RGD:1344870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25261935 12110373 PLEKHS1 pleckstrin homology domain containing S1 gene DOID:630 genetic disease ISO RGD:1344870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110373 PLEKHS1 pleckstrin homology domain containing S1 gene DOID:9007692 Insulin Resistance ISO RGD:1559884 D RGD:9068941 20200609 RGD associated with obesity; PMID:27523322|REF_RGD_ID:11532750 12110394 OR7C1B olfactory receptor family 7 subfamily C member 1B gene DOID:630 genetic disease ISO RGD:1343510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110397 TMX1 thioredoxin related transmembrane protein 1 gene DOID:0080600 COVID-19 ISO RGD:1318232 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12110397 TMX1 thioredoxin related transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1318232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110410 NUMBL NUMB like endocytic adaptor protein gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1316854 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12110410 NUMBL NUMB like endocytic adaptor protein gene DOID:1342 congenital hypoplastic anemia ISO RGD:1316854 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12110410 NUMBL NUMB like endocytic adaptor protein gene DOID:2340 craniosynostosis ISO RGD:1316854 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12110410 NUMBL NUMB like endocytic adaptor protein gene DOID:630 genetic disease ISO RGD:1316854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110410 NUMBL NUMB like endocytic adaptor protein gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1316854 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12110410 NUMBL NUMB like endocytic adaptor protein gene DOID:9269 maple syrup urine disease ISO RGD:1316854 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12110432 TNNI1 troponin I1, slow skeletal type gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:732918 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12110432 TNNI1 troponin I1, slow skeletal type gene DOID:1540 parathyroid carcinoma ISO RGD:732918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12110432 TNNI1 troponin I1, slow skeletal type gene DOID:630 genetic disease ISO RGD:732918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110432 TNNI1 troponin I1, slow skeletal type gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:732918 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12110432 TNNI1 troponin I1, slow skeletal type gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12110453 NR1D1 nuclear receptor subfamily 1 group D member 1 gene DOID:0070128 congenital nongoitrous hypothyroidism 6 ISO RGD:731848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6 PMID:11075809|PMID:25741868|PMID:34008892 12110453 NR1D1 nuclear receptor subfamily 1 group D member 1 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:731848 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 12110453 NR1D1 nuclear receptor subfamily 1 group D member 1 gene DOID:0112313 brain small vessel disease ISO RGD:731848 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:promoter, exon:rs939347, rs2071570, rs12941497 (human) PMID:23083441|REF_RGD_ID:10448981 12110453 NR1D1 nuclear receptor subfamily 1 group D member 1 gene DOID:10762 portal hypertension treatment ISO RGD:628827 D RGD:9068941 20200609 RGD associated with Cholestasis PMID:24497272|REF_RGD_ID:10448995 12110453 NR1D1 nuclear receptor subfamily 1 group D member 1 gene DOID:13580 cholestasis ISO RGD:736119 D RGD:9068941 20200609 RGD PMID:24497272|REF_RGD_ID:10448995 12110453 NR1D1 nuclear receptor subfamily 1 group D member 1 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:731848 D RGD:9068941 20200609 RGD PMID:24497272|REF_RGD_ID:10448995 12110453 NR1D1 nuclear receptor subfamily 1 group D member 1 gene DOID:1459 hypothyroidism ISO RGD:628827 D RGD:9068941 20200609 RGD PMID:1315530|REF_RGD_ID:10448989 12110453 NR1D1 nuclear receptor subfamily 1 group D member 1 gene DOID:630 genetic disease ISO RGD:731848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110453 NR1D1 nuclear receptor subfamily 1 group D member 1 gene DOID:7998 hyperthyroidism ISO RGD:628827 D RGD:9068941 20200609 RGD PMID:1315530|REF_RGD_ID:10448989 12110453 NR1D1 nuclear receptor subfamily 1 group D member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:736119 D RGD:9068941 20200609 RGD PMID:24497272|REF_RGD_ID:10448995 12110453 NR1D1 nuclear receptor subfamily 1 group D member 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:628827 D RGD:9068941 20200609 RGD PMID:23637135|REF_RGD_ID:10448992 12110453 NR1D1 nuclear receptor subfamily 1 group D member 1 gene DOID:9452 fatty liver disease ISO RGD:731848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27664470 12110465 POU3F1 POU class 3 homeobox 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:730819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12110465 POU3F1 POU class 3 homeobox 1 gene DOID:630 genetic disease ISO RGD:730819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110465 POU3F1 POU class 3 homeobox 1 gene DOID:7148 rheumatoid arthritis ISO RGD:730819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 12110470 MIR370 microRNA mir-370 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1343857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 12110470 MIR370 microRNA mir-370 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1343857 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12110470 MIR370 microRNA mir-370 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1343857 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 12110470 MIR370 microRNA mir-370 gene DOID:9002170 Experimental Neoplasms ISO RGD:1343857 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12110470 MIR370 microRNA mir-370 gene DOID:9005172 Lung Neoplasms ISO RGD:1343857 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12110470 MIR370 microRNA mir-370 gene DOID:9007787 Carcinoid Tumor ISO RGD:1343857 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12110473 LOC102151412 putative protein ZNF720 gene DOID:630 genetic disease ISO RGD:1342538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110492 SPINK13 serine peptidase inhibitor Kazal type 13 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:2949691 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12110492 SPINK13 serine peptidase inhibitor Kazal type 13 gene DOID:630 genetic disease ISO RGD:2949691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110492 SPINK13 serine peptidase inhibitor Kazal type 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2949691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12110492 SPINK13 serine peptidase inhibitor Kazal type 13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2949691 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12110528 TRPC5OS TRPC5 opposite strand gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:5144676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12110528 TRPC5OS TRPC5 opposite strand gene DOID:12849 autistic disorder ISO RGD:5144676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12110528 TRPC5OS TRPC5 opposite strand gene DOID:5419 schizophrenia ISO RGD:5144676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12110528 TRPC5OS TRPC5 opposite strand gene DOID:630 genetic disease ISO RGD:5144676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110550 SUSD3 sushi domain containing 3 gene DOID:630 genetic disease ISO RGD:1322117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110568 LOC106559800 developmental pluripotency-associated protein 2-like gene DOID:5426 primary ovarian insufficiency ISO RGD:1348790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12110568 LOC106559800 developmental pluripotency-associated protein 2-like gene DOID:630 genetic disease ISO RGD:1348790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110576 OR2A25 olfactory receptor family 2 subfamily A member 25 gene DOID:630 genetic disease ISO RGD:1343005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110580 SKOR2 SKI family transcriptional corepressor 2 gene DOID:0060356 Vici syndrome ISO RGD:3160638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 12110580 SKOR2 SKI family transcriptional corepressor 2 gene DOID:1059 intellectual disability ISO RGD:3160638 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12110580 SKOR2 SKI family transcriptional corepressor 2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:3160638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 12110594 ZXDC ZXD family zinc finger C gene DOID:630 genetic disease ISO RGD:1607003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110594 ZXDC ZXD family zinc finger C gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1607003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12110594 ZXDC ZXD family zinc finger C gene DOID:9270 alkaptonuria ISO RGD:1607003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12110608 SNAPC2 small nuclear RNA activating complex polypeptide 2 gene DOID:0080490 mucolipidosis type IV ISO RGD:1312116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12110608 SNAPC2 small nuclear RNA activating complex polypeptide 2 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1312116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 12110608 SNAPC2 small nuclear RNA activating complex polypeptide 2 gene DOID:630 genetic disease ISO RGD:1312116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110621 GPR75 G protein-coupled receptor 75 gene DOID:630 genetic disease ISO RGD:1343209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110657 SSTR2 somatostatin receptor 2 gene DOID:0050773 paraganglioma ISO RGD:1346941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29163802 12110657 SSTR2 somatostatin receptor 2 gene DOID:169 neuroendocrine tumor ISO RGD:1346941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17625444 12110657 SSTR2 somatostatin receptor 2 gene DOID:1793 pancreatic cancer ISO RGD:1346941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15259086|PMID:17625444|PMID:19917848 12110657 SSTR2 somatostatin receptor 2 gene DOID:1824 status epilepticus ISO RGD:1346941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18951627 12110657 SSTR2 somatostatin receptor 2 gene DOID:630 genetic disease ISO RGD:1346941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110657 SSTR2 somatostatin receptor 2 gene DOID:9000998 Brain Injuries ISO RGD:3763 D RGD:9068941 20200609 RGD PMID:11879809|REF_RGD_ID:2325002 12110657 SSTR2 somatostatin receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3763 D RGD:9068941 20200609 RGD PMID:7956902|REF_RGD_ID:2325008 12110676 ATG12 autophagy related 12 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314851 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12110676 ATG12 autophagy related 12 gene DOID:12849 autistic disorder ISO RGD:1314851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12110676 ATG12 autophagy related 12 gene DOID:630 genetic disease ISO RGD:1314851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110676 ATG12 autophagy related 12 gene DOID:9000998 Brain Injuries ISO RGD:1306306 D RGD:9068941 20200609 RGD protein:altered localization:brain PMID:18059433|REF_RGD_ID:2301217 12110676 ATG12 autophagy related 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12110676 ATG12 autophagy related 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314851 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12110688 SAXO1 stabilizer of axonemal microtubules 1 gene DOID:630 genetic disease ISO RGD:1322281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110702 MAPRE3 microtubule associated protein RP/EB family member 3 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1343455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12110702 MAPRE3 microtubule associated protein RP/EB family member 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1343455 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12110702 MAPRE3 microtubule associated protein RP/EB family member 3 gene DOID:630 genetic disease ISO RGD:1343455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110702 MAPRE3 microtubule associated protein RP/EB family member 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:1343455 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12110719 RSU1 Ras suppressor protein 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1313402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12110719 RSU1 Ras suppressor protein 1 gene DOID:11476 osteoporosis ISO RGD:1313402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12110719 RSU1 Ras suppressor protein 1 gene DOID:630 genetic disease ISO RGD:1313402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110719 RSU1 Ras suppressor protein 1 gene DOID:9001341 Chloracne ISO RGD:1313402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12110735 MGA MAX dimerization protein MGA gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1351170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12110735 MGA MAX dimerization protein MGA gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1351170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413735 12110735 MGA MAX dimerization protein MGA gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1351170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 12110735 MGA MAX dimerization protein MGA gene DOID:2717 Bloom syndrome ISO RGD:1351170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12110735 MGA MAX dimerization protein MGA gene DOID:630 genetic disease ISO RGD:1351170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110735 MGA MAX dimerization protein MGA gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12110735 MGA MAX dimerization protein MGA gene DOID:9256 colorectal cancer ISO RGD:1351170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12110735 MGA MAX dimerization protein MGA gene DOID:9538 multiple myeloma ISO RGD:1351170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12110781 ZNF131 zinc finger protein 131 gene DOID:630 genetic disease ISO RGD:1353025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110781 ZNF131 zinc finger protein 131 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12110802 RAI14 retinoic acid induced 14 gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:1314269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 12110802 RAI14 retinoic acid induced 14 gene DOID:630 genetic disease ISO RGD:1314269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110802 RAI14 retinoic acid induced 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12110833 TEKT5 tektin 5 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1605283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 12110833 TEKT5 tektin 5 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1605283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 12110833 TEKT5 tektin 5 gene DOID:5419 schizophrenia ISO RGD:1605283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12110833 TEKT5 tektin 5 gene DOID:5812 MHC class II deficiency ISO RGD:1605283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:26271388|PMID:28492532|PMID:8402893|PMID:9099848 12110833 TEKT5 tektin 5 gene DOID:630 genetic disease ISO RGD:1605283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110844 GLOD5 glyoxalase domain containing 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12110844 GLOD5 glyoxalase domain containing 5 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1603816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12110844 GLOD5 glyoxalase domain containing 5 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1603816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12110844 GLOD5 glyoxalase domain containing 5 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1603816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12110844 GLOD5 glyoxalase domain containing 5 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1603816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12110844 GLOD5 glyoxalase domain containing 5 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1603816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12110844 GLOD5 glyoxalase domain containing 5 gene DOID:12849 autistic disorder ISO RGD:1603816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12110844 GLOD5 glyoxalase domain containing 5 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16783379|PMID:22706301|PMID:23704091|PMID:24453067|PMID:28492532 12110844 GLOD5 glyoxalase domain containing 5 gene DOID:630 genetic disease ISO RGD:1603816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110857 TNMD tenomodulin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12110857 TNMD tenomodulin gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:731806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:21053371|PMID:23712037|PMID:27179713|PMID:28492532|PMID:29377098 12110857 TNMD tenomodulin gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:731806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 12110857 TNMD tenomodulin gene DOID:12849 autistic disorder ISO RGD:731806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12110857 TNMD tenomodulin gene DOID:630 genetic disease ISO RGD:731806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12110868 HINT2 histidine triad nucleotide binding protein 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1318948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12110868 HINT2 histidine triad nucleotide binding protein 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1318948 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12110868 HINT2 histidine triad nucleotide binding protein 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:1318948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12110868 HINT2 histidine triad nucleotide binding protein 2 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1318948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12110868 HINT2 histidine triad nucleotide binding protein 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1318948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12110868 HINT2 histidine triad nucleotide binding protein 2 gene DOID:630 genetic disease ISO RGD:1318948 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110868 HINT2 histidine triad nucleotide binding protein 2 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1318948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12110868 HINT2 histidine triad nucleotide binding protein 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12110868 HINT2 histidine triad nucleotide binding protein 2 gene DOID:9870 galactosemia ISO RGD:1318948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12110880 TSPAN32 tetraspanin 32 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12110880 TSPAN32 tetraspanin 32 gene DOID:0080773 delta beta-thalassemia ISO RGD:1318659 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12110880 TSPAN32 tetraspanin 32 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12110880 TSPAN32 tetraspanin 32 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1318659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12110880 TSPAN32 tetraspanin 32 gene DOID:630 genetic disease ISO RGD:1318659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110880 TSPAN32 tetraspanin 32 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1318659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12110898 TKFC triokinase and FMN cyclase gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1607064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12110898 TKFC triokinase and FMN cyclase gene DOID:1059 intellectual disability ISO RGD:1607064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12110898 TKFC triokinase and FMN cyclase gene DOID:630 genetic disease ISO RGD:1607064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12110898 TKFC triokinase and FMN cyclase gene DOID:655 inherited metabolic disorder ISO RGD:1607064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn errors of metabolism PMID:25741868|PMID:32004446 12110898 TKFC triokinase and FMN cyclase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1607064 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12110898 TKFC triokinase and FMN cyclase gene DOID:9001881 TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME ISO RGD:1607064 D RGD:7240710 20211103 OMIM 12110898 TKFC triokinase and FMN cyclase gene DOID:9001881 TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME ISO RGD:1607064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Triokinase and FMN cyclase deficiency syndrome PMID:25741868|PMID:32004446 12110938 KYNU kynureninase gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:734173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 12110938 KYNU kynureninase gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:734173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:21981781|PMID:23632792 12110938 KYNU kynureninase gene DOID:0081122 Catel Manzke syndrome ISO RGD:734173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROME PMID:25741868|PMID:31923704|PMID:33942433 12110938 KYNU kynureninase gene DOID:0112257 hydroxykynureninuria ISO RGD:734173 D RGD:7240710 20180130 OMIM 12110938 KYNU kynureninase gene DOID:0112257 hydroxykynureninuria ISO RGD:734173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydroxykynureninuria PMID:17334708|PMID:25741868 12110938 KYNU kynureninase gene DOID:10763 hypertension ISO RGD:71061 D RGD:9068941 20200609 RGD PMID:11924719|REF_RGD_ID:631322 12110938 KYNU kynureninase gene DOID:1289 neurodegenerative disease ISO RGD:734173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16365156 12110938 KYNU kynureninase gene DOID:630 genetic disease ISO RGD:734173 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12110938 KYNU kynureninase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12110938 KYNU kynureninase gene DOID:9003412 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 ISO RGD:734173 D RGD:7240710 20190315 OMIM 12110938 KYNU kynureninase gene DOID:9003412 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 ISO RGD:734173 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Vertebral, cardiac, renal, and limb defects syndrome 2 PMID:25741868|PMID:28792876|PMID:34200361 12110938 KYNU kynureninase gene DOID:9005372 Inflammation ISO RGD:734173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16365156 12110966 OTOG otogelin gene DOID:0050563 nonsyndromic deafness ISO RGD:1315323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:24033266 12110966 OTOG otogelin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1315323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:30303587 12110966 OTOG otogelin gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1315323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12110966 OTOG otogelin gene DOID:0110474 autosomal recessive nonsyndromic deafness 18B ISO RGD:1315323 D RGD:7240710 20180130 OMIM 12110966 OTOG otogelin gene DOID:0110474 autosomal recessive nonsyndromic deafness 18B ISO RGD:1315323 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 18b PMID:10655058|PMID:16199547|PMID:17576681|PMID:23122587|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28050010|PMID:28492532|PMID:29196752|PMID:29907799|PMID:30139988|PMID:30311386|PMID:31152317|PMID:31645975|PMID:31827275|PMID:32048449|PMID:33223529|PMID:35802133|PMID:36633841|PMID:9536098 12110966 OTOG otogelin gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1315323 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 12110966 OTOG otogelin gene DOID:1059 intellectual disability ISO RGD:1315323 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10655058|PMID:23122587|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29907799 12110966 OTOG otogelin gene DOID:1826 epilepsy ISO RGD:1315323 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure PMID:10655058|PMID:23122587|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29907799 12110966 OTOG otogelin gene DOID:9004538 Hearing Loss ISO RGD:1315323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss PMID:24033266|PMID:28492532|PMID:30311386|PMID:32048449 12110966 OTOG otogelin gene DOID:9008681 Deafness ISO RGD:1315323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 12110966 OTOG otogelin gene DOID:9849 Meniere's disease ISO RGD:1315323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:17576681|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28945198|PMID:9536098 12111025 CAMKK2 calcium/calmodulin dependent protein kinase kinase 2 gene DOID:3070 high grade glioma disease_progression ISO RGD:737324 D RGD:9068941 20200609 RGD PMID:27012733|REF_RGD_ID:13674178 12111025 CAMKK2 calcium/calmodulin dependent protein kinase kinase 2 gene DOID:630 genetic disease ISO RGD:737324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111025 CAMKK2 calcium/calmodulin dependent protein kinase kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28634229 12111025 CAMKK2 calcium/calmodulin dependent protein kinase kinase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28634229 12111053 HELLS helicase, lymphoid specific gene DOID:0090011 immunodeficiency-centromeric instability-facial anomalies syndrome 4 ISO RGD:1346644 D RGD:7240710 20190315 OMIM 12111053 HELLS helicase, lymphoid specific gene DOID:0090011 immunodeficiency-centromeric instability-facial anomalies syndrome 4 ISO RGD:1346644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 4 PMID:21596365|PMID:25741868|PMID:26216346|PMID:28492532 12111053 HELLS helicase, lymphoid specific gene DOID:11612 polycystic ovary syndrome ISO RGD:1346644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12111053 HELLS helicase, lymphoid specific gene DOID:3070 high grade glioma severity ISO RGD:1346644 D RGD:9068941 20200609 RGD PMID:28042322|REF_RGD_ID:13702468 12111053 HELLS helicase, lymphoid specific gene DOID:3910 lung adenocarcinoma ISO RGD:1346644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12111053 HELLS helicase, lymphoid specific gene DOID:630 genetic disease ISO RGD:1346644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12111053 HELLS helicase, lymphoid specific gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12111053 HELLS helicase, lymphoid specific gene DOID:9002644 Premature Aging ISO RGD:1616865 D RGD:9068941 20200609 RGD PMID:15105378|REF_RGD_ID:10402190 12111053 HELLS helicase, lymphoid specific gene DOID:9006205 Animal Disease Models ISO RGD:1346644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12111086 CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1349470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12111086 CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1349470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12111086 CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1349470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12111086 CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1349470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12111086 CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 gene DOID:630 genetic disease ISO RGD:1349470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111086 CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12111096 CHKB choline kinase beta gene DOID:0060041 autism spectrum disorder ISO RGD:1604071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12111096 CHKB choline kinase beta gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1604071 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12111096 CHKB choline kinase beta gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1604071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12111096 CHKB choline kinase beta gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1604071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12111096 CHKB choline kinase beta gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1604071 D RGD:7240710 20180130 OMIM 12111096 CHKB choline kinase beta gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1604071 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:16199547|PMID:17576681|PMID:21665002|PMID:23692895|PMID:23945283|PMID:24997086|PMID:25326635|PMID:25326637|PMID:25740612|PMID:25741868|PMID:26467025|PMID:26782016|PMID:28492532|PMID:33712684|PMID:7767093|PMID:9427222|PMID:9536098 12111096 CHKB choline kinase beta gene DOID:10581 metachromatic leukodystrophy ISO RGD:1604071 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12111096 CHKB choline kinase beta gene DOID:1059 intellectual disability ISO RGD:1604071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12111096 CHKB choline kinase beta gene DOID:1826 epilepsy ISO RGD:1604071 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12111096 CHKB choline kinase beta gene DOID:630 genetic disease ISO RGD:1604071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12111096 CHKB choline kinase beta gene DOID:8619 recurrent hypersomnia susceptibility ISO RGD:1604071 D RGD:9068941 20200609 RGD DNA:SNP: :rs5770917 (human) PMID:19404393|REF_RGD_ID:6483442 12111096 CHKB choline kinase beta gene DOID:8986 narcolepsy ISO RGD:1604071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18820697 12111096 CHKB choline kinase beta gene DOID:8986 narcolepsy susceptibility ISO RGD:1604071 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:3' utr:c.*257A>G (rs5770917) (human) PMID:18820697|REF_RGD_ID:6483443 12111096 CHKB choline kinase beta gene DOID:9884 muscular dystrophy ISO RGD:1604071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:25741868 12111111 FANCC FA complementation group C gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:735813 D RGD:9068941 20200609 RGD PMID:17409780|REF_RGD_ID:11049143 12111111 FANCC FA complementation group C gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:735813 D RGD:9068941 20200609 RGD DNA:haplotype::rs4647416(human) PMID:21670957|REF_RGD_ID:11045795 12111111 FANCC FA complementation group C gene DOID:0111087 Fanconi anemia complementation group C ISO RGD:735813 D RGD:7240710 20180130 OMIM 12111111 FANCC FA complementation group C gene DOID:0111087 Fanconi anemia complementation group C ISO RGD:735813 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group C PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10431244|PMID:10666230|PMID:10994546|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19278965|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:23934222|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32496904|PMID:32546565|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 12111111 FANCC FA complementation group C gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:735813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:08128956|PMID:08348157|PMID:08844212|PMID:09616183|PMID:12670332|PMID:14695169|PMID:14726700|PMID:15695377|PMID:17924555|PMID:22995991|PMID:23028338|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26689913|PMID:26740942|PMID:27153395|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29360161|PMID:29643063|PMID:29719599|PMID:30031030|PMID:30306255|PMID:31784482|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:33471991|PMID:34117267|PMID:8128956|PMID:8348157|PMID:8799375|PMID:8844212|PMID:8882868|PMID:9521584|PMID:9616183 12111111 FANCC FA complementation group C gene DOID:0111140 IGSF1 deficiency syndrome ISO RGD:735813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement 12111111 FANCC FA complementation group C gene DOID:1059 intellectual disability ISO RGD:735813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12111111 FANCC FA complementation group C gene DOID:12450 pancytopenia ISO RGD:10566 D RGD:9068941 20200609 RGD Low dose of mitomycin C 0.3mg/kg PMID:9531583|REF_RGD_ID:11045793 12111111 FANCC FA complementation group C gene DOID:12450 pancytopenia ISO RGD:735813 D RGD:9068941 20200609 RGD PMID:10627482|REF_RGD_ID:11045794 12111111 FANCC FA complementation group C gene DOID:13636 Fanconi anemia ISO RGD:735813 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32566746|PMID:32659497|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33471991|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 12111111 FANCC FA complementation group C gene DOID:13636 Fanconi anemia ISO RGD:735813 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33471991|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 12111111 FANCC FA complementation group C gene DOID:13636 Fanconi anemia ISO RGD:735813 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33471991|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 12111111 FANCC FA complementation group C gene DOID:13636 Fanconi anemia ISO RGD:735813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 12111111 FANCC FA complementation group C gene DOID:13636 Fanconi anemia ISO RGD:735813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:10994546|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:23934222|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 12111111 FANCC FA complementation group C gene DOID:13636 Fanconi anemia onset ISO RGD:735813 D RGD:9068941 20200609 RGD DNA:deletion: :322delG (human) PMID:11110674|REF_RGD_ID:11344914 12111111 FANCC FA complementation group C gene DOID:14115 toxic shock syndrome ISO RGD:10566 D RGD:9068941 20200609 RGD PMID:17404312|REF_RGD_ID:11045879 12111111 FANCC FA complementation group C gene DOID:1520 colon carcinoma ISO RGD:735813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:25058500|PMID:27165003 12111111 FANCC FA complementation group C gene DOID:1612 breast cancer ISO RGD:735813 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:08128956|PMID:08348157|PMID:08844212|PMID:09616183|PMID:10666230|PMID:11427142|PMID:12670332|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:17576681|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20509860|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26778106|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28873162|PMID:29360161|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30630526|PMID:31721781|PMID:31874108|PMID:32546565|PMID:33471991|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8128956|PMID:8348157|PMID:8639804|PMID:8799375|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9521584|PMID:9536098|PMID:9616183 12111111 FANCC FA complementation group C gene DOID:1612 breast cancer ISO RGD:735813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:08128956|PMID:08348157|PMID:08844212|PMID:09616183|PMID:10666230|PMID:11427142|PMID:12670332|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:16199547|PMID:17576681|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20509860|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26778106|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28873162|PMID:29360161|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30630526|PMID:31721781|PMID:31874108|PMID:32546565|PMID:32659497|PMID:32885271|PMID:33471991|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8128956|PMID:8348157|PMID:8639804|PMID:8799375|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9521584|PMID:9536098|PMID:9616183 12111111 FANCC FA complementation group C gene DOID:1793 pancreatic cancer ISO RGD:735813 D RGD:9068941 20200609 RGD PMID:16243825|REF_RGD_ID:2317238 12111111 FANCC FA complementation group C gene DOID:1793 pancreatic cancer ISO RGD:735813 D RGD:9068941 20200609 RGD DNA:nonsense mutation (human) PMID:15695377|REF_RGD_ID:2317239 12111111 FANCC FA complementation group C gene DOID:2018 hyperinsulinism ISO RGD:735813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22482891 12111111 FANCC FA complementation group C gene DOID:2394 ovarian cancer ISO RGD:735813 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532|PMID:32885271 12111111 FANCC FA complementation group C gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:735813 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:17703323|PMID:17924555|PMID:22382802|PMID:28492532 12111111 FANCC FA complementation group C gene DOID:5426 primary ovarian insufficiency ISO RGD:735813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12111111 FANCC FA complementation group C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:32566746 12111111 FANCC FA complementation group C gene DOID:630 genetic disease ISO RGD:735813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12111111 FANCC FA complementation group C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735813 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10666230|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:25801821|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30676620|PMID:30967997|PMID:31589614|PMID:31784482|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33471991|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8639804|PMID:8799375|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9521584|PMID:9536098|PMID:9616183 12111111 FANCC FA complementation group C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735813 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33471991|PMID:34008892|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 12111111 FANCC FA complementation group C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 12111111 FANCC FA complementation group C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 12111111 FANCC FA complementation group C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735813 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 12111111 FANCC FA complementation group C gene DOID:9007456 Female Infertility ISO RGD:10566 D RGD:9068941 20200609 RGD PMID:8704201|REF_RGD_ID:1300317 12111111 FANCC FA complementation group C gene DOID:9007692 Insulin Resistance ISO RGD:10566 D RGD:9068941 20200609 RGD PMID:22482891|REF_RGD_ID:11046266 12111111 FANCC FA complementation group C gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:735813 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.S26F (human) PMID:12670332|REF_RGD_ID:11046259 12111111 FANCC FA complementation group C gene DOID:9970 obesity ISO RGD:10566 D RGD:9068941 20200609 RGD PMID:22482891|REF_RGD_ID:11046266 12111141 ZNF750 zinc finger protein 750 gene DOID:630 genetic disease ISO RGD:1602862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12111141 ZNF750 zinc finger protein 750 gene DOID:9000707 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM ISO RGD:1602862 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum PMID:25741868 12111141 ZNF750 zinc finger protein 750 gene DOID:9001638 Seborrhea-Like Dermatitis with Psoriasiform Elements ISO RGD:1602862 D RGD:7240710 20180130 OMIM 12111141 ZNF750 zinc finger protein 750 gene DOID:9001638 Seborrhea-Like Dermatitis with Psoriasiform Elements ISO RGD:1602862 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seborrhea-like dermatitis with psoriasiform elements PMID:16751772|PMID:25741868 12111142 PAX2 paired box 2 gene DOID:0080204 renal hypoplasia ISO RGD:1313673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypoplasia PMID:25741868|PMID:35005812 12111142 PAX2 paired box 2 gene DOID:0080205 CAKUT ISO RGD:1313673 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:11093271|PMID:11241473|PMID:11461952|PMID:22213154|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:33532864|PMID:3377002|PMID:8589702|PMID:9106533 12111142 PAX2 paired box 2 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1313673 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:11093271|PMID:11241473|PMID:11461952|PMID:22213154|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:33532864|PMID:3377002|PMID:8589702|PMID:9106533 12111142 PAX2 paired box 2 gene DOID:0090006 renal coloboma syndrome ISO RGD:1313673 D RGD:7240710 20180130 OMIM 12111142 PAX2 paired box 2 gene DOID:0090006 renal coloboma syndrome ISO RGD:1313673 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Papillorenal syndrome with macular abnormalities | ClinVar Annotator: match by term: Renal coloboma syndrome PMID:10466411|PMID:10533062|PMID:11093271|PMID:11241473|PMID:11461952|PMID:15652857|PMID:16199547|PMID:17576681|PMID:20221250|PMID:20358591|PMID:21654726|PMID:22213154|PMID:22350371|PMID:23539225|PMID:24033266|PMID:24429398|PMID:24676634|PMID:25640679|PMID:25741868|PMID:2644560|PMID:27226968|PMID:27657687|PMID:28041643|PMID:28492532|PMID:28566479|PMID:29054766|PMID:29973660|PMID:30076350|PMID:30241513|PMID:30773290|PMID:31001663|PMID:31060108|PMID:31576025|PMID:31692565|PMID:32203253|PMID:32604935|PMID:32776440|PMID:33532864|PMID:3377002|PMID:34031707|PMID:34059960|PMID:34696790|PMID:7795640|PMID:8589702|PMID:8943028|PMID:9106533|PMID:9536098|PMID:9760197 12111142 PAX2 paired box 2 gene DOID:0111101 maturity-onset diabetes of the young type 5 ISO RGD:1313673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal cysts and diabetes syndrome PMID:27657687 12111142 PAX2 paired box 2 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1313673 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:11093271|PMID:11241473|PMID:11461952|PMID:22213154|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:33532864|PMID:3377002|PMID:8589702|PMID:9106533 12111142 PAX2 paired box 2 gene DOID:0111132 focal segmental glomerulosclerosis 7 ISO RGD:1313673 D RGD:7240710 20180130 OMIM 12111142 PAX2 paired box 2 gene DOID:0111132 focal segmental glomerulosclerosis 7 ISO RGD:1313673 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 7 PMID:11093271|PMID:11241473|PMID:11461952|PMID:21654726|PMID:22213154|PMID:22350371|PMID:23539225|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:32604935|PMID:33532864|PMID:3377002|PMID:8589702|PMID:9106533 12111142 PAX2 paired box 2 gene DOID:1184 nephrotic syndrome ISO RGD:1313673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 12111142 PAX2 paired box 2 gene DOID:12270 coloboma ISO RGD:1313673 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:25741868 12111142 PAX2 paired box 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1313673 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:11093271|PMID:11241473|PMID:11461952|PMID:22213154|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:33532864|PMID:3377002|PMID:8589702|PMID:9106533 12111142 PAX2 paired box 2 gene DOID:1826 epilepsy ISO RGD:1313673 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12111142 PAX2 paired box 2 gene DOID:2154 nephroblastoma ISO RGD:1305568 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:7937920|REF_RGD_ID:2316757 12111142 PAX2 paired box 2 gene DOID:2154 nephroblastoma ISO RGD:1313673 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:12057921|REF_RGD_ID:2316755 12111142 PAX2 paired box 2 gene DOID:289 endometriosis ISO RGD:1313673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22473392 12111142 PAX2 paired box 2 gene DOID:2975 cystic kidney disease ISO RGD:1313673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal cyst 12111142 PAX2 paired box 2 gene DOID:5176 renal Wilms' tumor ISO RGD:1313673 D RGD:9068941 20221103 RGD human tumor in mouse model PMID:18467665|REF_RGD_ID:155631277 12111142 PAX2 paired box 2 gene DOID:630 genetic disease ISO RGD:1313673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:34059960|PMID:34696790 12111142 PAX2 paired box 2 gene DOID:783 end stage renal disease ISO RGD:1313673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16631587 12111142 PAX2 paired box 2 gene DOID:784 chronic kidney disease treatment ISO RGD:1313673 D RGD:9068941 20221103 RGD human cells in rat model PMID:33298161|REF_RGD_ID:155631310 12111142 PAX2 paired box 2 gene DOID:8501 fundus dystrophy ISO RGD:1313673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28041643|PMID:28492532 12111142 PAX2 paired box 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1305568 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney cortex PMID:15149326|REF_RGD_ID:2316747 12111142 PAX2 paired box 2 gene DOID:9002739 Female Urogenital Diseases ISO RGD:1313673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 12111142 PAX2 paired box 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1305568 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:12444203|REF_RGD_ID:727468 12111174 BEND6 BEN domain containing 6 gene DOID:630 genetic disease ISO RGD:1321272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111199 FADD Fas associated via death domain gene DOID:0060108 brain glioma treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:27255231|REF_RGD_ID:13792502 12111199 FADD Fas associated via death domain gene DOID:0060482 oculoauricular syndrome ISO RGD:1345195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17656375 12111199 FADD Fas associated via death domain gene DOID:10003 sensorineural hearing loss ISO RGD:1345195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17656375 12111199 FADD Fas associated via death domain gene DOID:1059 intellectual disability ISO RGD:1345195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12111199 FADD Fas associated via death domain gene DOID:10652 Alzheimer's disease ISO RGD:1345195 D RGD:9068941 20200609 RGD PMID:16085017|REF_RGD_ID:13782385 12111199 FADD Fas associated via death domain gene DOID:10763 hypertension treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:24355328|REF_RGD_ID:11344883 12111199 FADD Fas associated via death domain gene DOID:11132 prostatic hypertrophy treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:27441629|REF_RGD_ID:13792501 12111199 FADD Fas associated via death domain gene DOID:1240 leukemia ISO RGD:1345195 D RGD:9068941 20200609 RGD DNA:SNP: :rs7939734 (human) PMID:22244917|REF_RGD_ID:11341800 12111199 FADD Fas associated via death domain gene DOID:14221 abdominal obesity-metabolic syndrome 1 treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:27131981|REF_RGD_ID:13792503 12111199 FADD Fas associated via death domain gene DOID:1596 depressive disorder treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:30138765|REF_RGD_ID:13792497 12111199 FADD Fas associated via death domain gene DOID:224 transient cerebral ischemia ISO RGD:628700 D RGD:9068941 20220527 RGD mRNA,protein:increased expression:cerebral cortex: PMID:18096138|REF_RGD_ID:4142863 12111199 FADD Fas associated via death domain gene DOID:2560 morphine dependence severity ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:21088039|REF_RGD_ID:11341805 12111199 FADD Fas associated via death domain gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:23378241|REF_RGD_ID:11344885 12111199 FADD Fas associated via death domain gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:732106 D RGD:9068941 20200609 RGD PMID:18950622|REF_RGD_ID:11341807 12111199 FADD Fas associated via death domain gene DOID:630 genetic disease ISO RGD:1345195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111199 FADD Fas associated via death domain gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:23574812|REF_RGD_ID:11344882 12111199 FADD Fas associated via death domain gene DOID:9000288 Chronic Intermittent Hypoxia treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:26769958|REF_RGD_ID:13792505 12111199 FADD Fas associated via death domain gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16450001 12111199 FADD Fas associated via death domain gene DOID:9001349 Stomatognathic Diseases ISO RGD:1345195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17656375 12111199 FADD Fas associated via death domain gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:23423194|REF_RGD_ID:8661760 12111199 FADD Fas associated via death domain gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:29635023|REF_RGD_ID:13782292 12111199 FADD Fas associated via death domain gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1345195 D RGD:7240710 20180130 OMIM 12111199 FADD Fas associated via death domain gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1345195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FADD DEFICIENCY | ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:21109225|PMID:25326637|PMID:25794656|PMID:28492532|PMID:32350755 12111199 FADD Fas associated via death domain gene DOID:9004610 Acute Lung Injury treatment ISO RGD:628700 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic PMID:24122010|REF_RGD_ID:11341811 12111199 FADD Fas associated via death domain gene DOID:9004786 Carbon Tetrachloride Poisoning treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:25687490|REF_RGD_ID:11341810 12111199 FADD Fas associated via death domain gene DOID:9006646 Metabolic Syndrome ISO RGD:628700 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:23657904|REF_RGD_ID:11344884 12111199 FADD Fas associated via death domain gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:25447754|PMID:26062544|REF_RGD_ID:10053709|REF_RGD_ID:11341803 12111199 FADD Fas associated via death domain gene DOID:9007480 Hyperoxia ISO RGD:628700 D RGD:9068941 20200609 RGD protein:increased expression:thalamus PMID:19107989|REF_RGD_ID:8662854 12111199 FADD Fas associated via death domain gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:732106 D RGD:9068941 20200609 RGD PMID:26038570|REF_RGD_ID:11341801 12111199 FADD Fas associated via death domain gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:26948086|REF_RGD_ID:13792504 12111199 FADD Fas associated via death domain gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1345195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12111199 FADD Fas associated via death domain gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1345195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17656375 12111199 FADD Fas associated via death domain gene DOID:9009219 Diabetic Embryopathy ISO RGD:732106 D RGD:9068941 20200609 RGD PMID:26419589|REF_RGD_ID:13792560 12111199 FADD Fas associated via death domain gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1345195 D RGD:9068941 20200609 RGD PMID:15520222|REF_RGD_ID:11341799 12111199 FADD Fas associated via death domain gene DOID:9970 obesity ISO RGD:628700 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:18202171|REF_RGD_ID:2293027 12111206 IL31 interleukin 31 gene DOID:3310 atopic dermatitis ISO RGD:1353267 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 12111206 IL31 interleukin 31 gene DOID:630 genetic disease ISO RGD:1353267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111215 SERPINE3 serpin family E member 3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:2301110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12111215 SERPINE3 serpin family E member 3 gene DOID:1059 intellectual disability ISO RGD:2301110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12111215 SERPINE3 serpin family E member 3 gene DOID:630 genetic disease ISO RGD:2301110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111215 SERPINE3 serpin family E member 3 gene DOID:893 Wilson disease ISO RGD:2301110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:28492532 12111232 INPP5D inositol polyphosphate-5-phosphatase D gene DOID:10652 Alzheimer's disease ISO RGD:1348251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30320580 12111232 INPP5D inositol polyphosphate-5-phosphatase D gene DOID:5408 Paget's disease of bone ISO RGD:1551628 D RGD:9068941 20220825 MouseDO OMIM:167250 | OMIM:602080 | OMIM:606263 12111232 INPP5D inositol polyphosphate-5-phosphatase D gene DOID:630 genetic disease ISO RGD:1348251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111232 INPP5D inositol polyphosphate-5-phosphatase D gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12111232 INPP5D inositol polyphosphate-5-phosphatase D gene DOID:9004009 Reperfusion Injury ISO RGD:1348251 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25780291 12111232 INPP5D inositol polyphosphate-5-phosphatase D gene DOID:9074 systemic lupus erythematosus ISO RGD:1551628 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12111263 DIPK1A divergent protein kinase domain 1A gene DOID:0111879 Diamond-Blackfan anemia 6 ISO RGD:1603475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 PMID:19061985|PMID:19191325|PMID:19773262|PMID:20054847|PMID:20960466|PMID:23718193|PMID:23744582|PMID:25741868|PMID:25946618|PMID:28492532|PMID:28694211|PMID:28991257|PMID:30183354|PMID:30503522 12111263 DIPK1A divergent protein kinase domain 1A gene DOID:0111895 Diamond-Blackfan anemia 1 ISO RGD:1603475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 PMID:19061985|PMID:19191325|PMID:19773262|PMID:20054847|PMID:20960466|PMID:23718193|PMID:25741868|PMID:28492532 12111263 DIPK1A divergent protein kinase domain 1A gene DOID:0112131 severe congenital neutropenia 2 ISO RGD:1603475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant PMID:28492532 12111263 DIPK1A divergent protein kinase domain 1A gene DOID:12449 aplastic anemia ISO RGD:1603475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:25741868 12111263 DIPK1A divergent protein kinase domain 1A gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16199547|PMID:19061985|PMID:19191325|PMID:19773262|PMID:20054847|PMID:20960466|PMID:22689679|PMID:23718193|PMID:23744582|PMID:25741868|PMID:25946618|PMID:27432187|PMID:28492532|PMID:28694211|PMID:28991257|PMID:30183354|PMID:30503522 12111263 DIPK1A divergent protein kinase domain 1A gene DOID:630 genetic disease ISO RGD:1603475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111282 CDH24 cadherin 24 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1353170 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12111282 CDH24 cadherin 24 gene DOID:630 genetic disease ISO RGD:1353170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111282 CDH24 cadherin 24 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1353170 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12111282 CDH24 cadherin 24 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1353170 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12111302 SGIP1 SH3GL interacting endocytic adaptor 1 gene DOID:1059 intellectual disability ISO RGD:1346308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12111302 SGIP1 SH3GL interacting endocytic adaptor 1 gene DOID:630 genetic disease ISO RGD:1346308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111361 BEND2 BEN domain containing 2 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1350095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12111361 BEND2 BEN domain containing 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12111361 BEND2 BEN domain containing 2 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1350095 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:19780792|PMID:21770923|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684 12111361 BEND2 BEN domain containing 2 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1350095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12111361 BEND2 BEN domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1350095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12111361 BEND2 BEN domain containing 2 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1350095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12111361 BEND2 BEN domain containing 2 gene DOID:630 genetic disease ISO RGD:1350095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111361 BEND2 BEN domain containing 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1350095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12111361 BEND2 BEN domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12111395 HOXC5 homeobox C5 gene DOID:630 genetic disease ISO RGD:1344989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111395 HOXC5 homeobox C5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12111467 MIR31 microRNA mir-31 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1343532 D RGD:9068941 20220624 RGD RNA:increased expression:blood plasma (human) PMID:31874165|REF_RGD_ID:152995482 12111467 MIR31 microRNA mir-31 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1343532 D RGD:9068941 20220707 RGD RNA:increased expression:blood serum (human) PMID:21658006|REF_RGD_ID:152998938 12111467 MIR31 microRNA mir-31 gene DOID:0050866 oral squamous cell carcinoma treatment ISO RGD:1343532 D RGD:9068941 20220722 RGD PMID:20233326|REF_RGD_ID:153297767 12111467 MIR31 microRNA mir-31 gene DOID:10534 stomach cancer ISO RGD:1343532 D RGD:9068941 20220728 RGD RNA:decreased expression:stomach (human) PMID:19598010|REF_RGD_ID:153297815 12111467 MIR31 microRNA mir-31 gene DOID:10534 stomach cancer disease_progression ISO RGD:1343532 D RGD:9068941 20220728 RGD RNA:decreased expression:stomach (human) PMID:27904131|REF_RGD_ID:153297803 12111467 MIR31 microRNA mir-31 gene DOID:1324 lung cancer ISO RGD:1608161 D RGD:9068941 20220715 RGD RNA:increased expression:lung (human) PMID:20237410|REF_RGD_ID:152995484 12111467 MIR31 microRNA mir-31 gene DOID:1324 lung cancer disease_progression ISO RGD:1343532 D RGD:9068941 20220707 RGD RNA:increased expression:peripheral blood mononuclear cell (human) PMID:25765717|REF_RGD_ID:152998919 12111467 MIR31 microRNA mir-31 gene DOID:1612 breast cancer ISO RGD:1343532 D RGD:9068941 20220722 RGD RNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32104069|REF_RGD_ID:153297766 12111467 MIR31 microRNA mir-31 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:1343532 D RGD:9068941 20220707 RGD RNA:decreased expression:mucosa of larynx (human) PMID:29737563|REF_RGD_ID:152998933 12111467 MIR31 microRNA mir-31 gene DOID:3068 glioblastoma ISO RGD:1343532 D RGD:9068941 20220707 RGD RNA:decreased expression:brain (human) PMID:22089331|REF_RGD_ID:152998941 12111467 MIR31 microRNA mir-31 gene DOID:3717 gastric adenocarcinoma ISO RGD:1343532 D RGD:9068941 20220707 RGD RNA:decreased expression:blood serum (human) PMID:21658006|REF_RGD_ID:152998938 12111467 MIR31 microRNA mir-31 gene DOID:3744 cervical squamous cell carcinoma ISO RGD:1343532 D RGD:9068941 20220707 RGD RNA:increased expression:blood serum (human) PMID:21658006|REF_RGD_ID:152998938 12111467 MIR31 microRNA mir-31 gene DOID:3748 esophagus squamous cell carcinoma ameliorates ISO RGD:1343532 D RGD:9068941 20220707 RGD PMID:21658006|REF_RGD_ID:152998938 12111467 MIR31 microRNA mir-31 gene DOID:3748 esophagus squamous cell carcinoma ameliorates ISO RGD:2325391 D RGD:9068941 20220204 RGD PMID:32123074|REF_RGD_ID:127285381 12111467 MIR31 microRNA mir-31 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1343532 D RGD:9068941 20220707 RGD RNA:increased expression:blood serum (human) PMID:21658006|REF_RGD_ID:152998938 12111467 MIR31 microRNA mir-31 gene DOID:3907 lung squamous cell carcinoma severity ISO RGD:1343532 D RGD:9068941 20220708 RGD RNA:increased expression:lung (human) PMID:21890451|REF_RGD_ID:152998950 12111467 MIR31 microRNA mir-31 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1343532 D RGD:9068941 20220708 RGD miRNA:increased expression:sputum (human) PMID:27777637|REF_RGD_ID:152998954 12111467 MIR31 microRNA mir-31 gene DOID:3910 lung adenocarcinoma ISO RGD:1343532 D RGD:9068941 20220707 RGD RNA:increased expression:lung (human) PMID:27215092|REF_RGD_ID:11250998 12111467 MIR31 microRNA mir-31 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1343532 D RGD:9068941 20220707 RGD RNA:increased expression:lung (human) PMID:23946296|REF_RGD_ID:152998944 12111467 MIR31 microRNA mir-31 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1343532 D RGD:9068941 20220707 RGD RNA:increased expression:lung (human) PMID:26657862|PMID:29367106|REF_RGD_ID:11343268|REF_RGD_ID:152998945 12111467 MIR31 microRNA mir-31 gene DOID:4450 renal cell carcinoma severity ISO RGD:1343532 D RGD:9068941 20220728 RGD RNA:decreased expression:proximal convoluted tubule (human) PMID:30597305|REF_RGD_ID:153297805 12111467 MIR31 microRNA mir-31 gene DOID:4606 bile duct cancer exacerbates ISO RGD:1343532 D RGD:9068941 20220714 RGD RNA:increased expression:bile duct (human) PMID:29860474|REF_RGD_ID:152998990 12111467 MIR31 microRNA mir-31 gene DOID:4989 pancreatitis ISO RGD:1343532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12111467 MIR31 microRNA mir-31 gene DOID:5419 schizophrenia ISO RGD:1343532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12111467 MIR31 microRNA mir-31 gene DOID:684 hepatocellular carcinoma ISO RGD:1343532 D RGD:9068941 20220714 RGD RNA:decreased expression:liver (human) PMID:28623129|REF_RGD_ID:152998991 12111467 MIR31 microRNA mir-31 gene DOID:684 hepatocellular carcinoma ISO RGD:2325391 D RGD:9068941 20220721 RGD miRNA:decreased expression:liver (rat) PMID:25797269|REF_RGD_ID:11085965 12111467 MIR31 microRNA mir-31 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1343532 D RGD:9068941 20220721 RGD miRNA:decreased expression:liver (human) PMID:25797269|REF_RGD_ID:11085965 12111467 MIR31 microRNA mir-31 gene DOID:8577 ulcerative colitis ISO RGD:1343532 D RGD:9068941 20200609 RGD miRNA:increased expression:colon PMID:29438285|REF_RGD_ID:21403682 12111467 MIR31 microRNA mir-31 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1343532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 12111467 MIR31 microRNA mir-31 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1343532 D RGD:9068941 20220728 RGD associated with colorectal cancer;RNA:increased expression:colorectum (human) PMID:26497852|REF_RGD_ID:153297806 12111467 MIR31 microRNA mir-31 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1343532 D RGD:9068941 20220728 RGD associated with colorectal cancer PMID:30108104|REF_RGD_ID:153297776 12111467 MIR31 microRNA mir-31 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1343532 D RGD:9068941 20220728 RGD associated with stomach cancer;human cells in mouse model PMID:27174918|REF_RGD_ID:153297811 12111467 MIR31 microRNA mir-31 gene DOID:9002928 Colonic Neoplasms ISO RGD:1343532 D RGD:9068941 20220721 RGD associated with inflammatory bowel disease; RNA:increased expression:colorectal mucosa (human) PMID:20848542|REF_RGD_ID:153297753 12111467 MIR31 microRNA mir-31 gene DOID:9004831 Colitis-Associated Neoplasms exacerbates ISO RGD:1608161 D RGD:9068941 20220714 RGD PMID:28600172|REF_RGD_ID:152998983 12111467 MIR31 microRNA mir-31 gene DOID:9005172 Lung Neoplasms ISO RGD:1343532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20237410 12111467 MIR31 microRNA mir-31 gene DOID:9256 colorectal cancer ISO RGD:1343532 D RGD:9068941 20220714 RGD RNA:increased expression:colorectal mucosa (human) PMID:26173758|REF_RGD_ID:11530687 12111467 MIR31 microRNA mir-31 gene DOID:9256 colorectal cancer ISO RGD:1343532 D RGD:9068941 20220721 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12111467 MIR31 microRNA mir-31 gene DOID:9256 colorectal cancer ISO RGD:1343532 D RGD:9068941 20220728 RGD RNA:increased expression:colorectum (human) PMID:29928882|REF_RGD_ID:153297812 12111467 MIR31 microRNA mir-31 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1343532 D RGD:9068941 20220728 RGD RNA:increased expression:colorectum (human) PMID:28600172|PMID:30396078|REF_RGD_ID:152998983|REF_RGD_ID:153297791 12111467 MIR31 microRNA mir-31 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1343532 D RGD:9068941 20220728 RGD miRNA:increased expression:colorectal mucosa (human) PMID:19242066|REF_RGD_ID:153297808 12111467 MIR31 microRNA mir-31 gene DOID:9256 colorectal cancer treatment ISO RGD:1343532 D RGD:9068941 20220728 RGD human cells in mouse model PMID:32682784|REF_RGD_ID:153297782 12111467 MIR31 microRNA mir-31 gene DOID:9261 nasopharynx carcinoma ameliorates ISO RGD:1343532 D RGD:9068941 20220728 RGD Human cells in mouse model PMID:25098679|REF_RGD_ID:152998921 12111467 MIR31 microRNA mir-31 gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:1343532 D RGD:9068941 20220707 RGD RNA:decreased expression:peripheral blood mononuclear cell (human) PMID:31129965|REF_RGD_ID:152998936 12111489 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:0050572 cone-rod dystrophy ISO RGD:1352344 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:23805033|PMID:24033266|PMID:25741868|PMID:25770143|PMID:28041643|PMID:28492532|PMID:28795510|PMID:30718709|PMID:32860008|PMID:33546218 12111489 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:0050817 Stargardt disease ISO RGD:1352344 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: STGD PMID:15161866|PMID:15223812|PMID:15657609|PMID:15712225|PMID:16379026|PMID:22975760|PMID:22995991|PMID:23776498|PMID:24504161|PMID:25205868|PMID:25474149|PMID:25616768|PMID:25741868|PMID:26106334|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:32869108 12111489 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:0110008 achromatopsia 3 IAGP D RGD:12801476 20221026 OMIA Achromatopsia-3, CNGB3-related PMID:5314320|PMID:5298491|PMID:12140185|PMID:20061167|PMID:20378608|PMID:16879359|PMID:22065099|PMID:23568263|PMID:23601474|PMID:25752464|PMID:29020838|PMID:32189222|PMID:35588783|PMID:5314319 12111489 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:0110008 achromatopsia 3 ISO RGD:1352344 D RGD:7240710 20180130 OMIM 12111489 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:0110008 achromatopsia 3 ISO RGD:1352344 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Achromatopsia 3 | ClinVar Annotator: match by term: Total colorblindness with myopia PMID:10888875|PMID:10958649|PMID:12187429|PMID:12357335|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15223812|PMID:15459792|PMID:15657609|PMID:15712225|PMID:1572225|PMID:16199547|PMID:16319819|PMID:16379026|PMID:17265047|PMID:17576681|PMID:17652762|PMID:19592100|PMID:20079539|PMID:20574029|PMID:22264887|PMID:22975760|PMID:22995991|PMID:23776498|PMID:23805033|PMID:24033266|PMID:24148654|PMID:24504161|PMID:25205868|PMID:25474149|PMID:25525159|PMID:25558076|PMID:25558176|PMID:25616768|PMID:25741868|PMID:25770143|PMID:26106334|PMID:26992781|PMID:27479814|PMID:27874104|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28341476|PMID:28418496|PMID:28492532|PMID:28795510|PMID:29053603|PMID:29186038|PMID:29769798|PMID:30337596|PMID:30418171|PMID:30718709|PMID:32860008|PMID:32869108|PMID:33546218|PMID:9536098 12111489 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1352344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10888875|PMID:10958649|PMID:11124331|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:26106334|PMID:28005958|PMID:28041643|PMID:28166811|PMID:28224992|PMID:28492532|PMID:28795510|PMID:30718709|PMID:32860008|PMID:33546218 12111489 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1352344 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:26106334|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28795510|PMID:30718709|PMID:32860008|PMID:33546218 12111489 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1352344 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:20301591|PMID:21270786|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:25974703|PMID:26106334|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:30718709|PMID:32860008|PMID:32869108|PMID:33546218 12111489 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1352344 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:26106334|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:30718709|PMID:32860008|PMID:32869108|PMID:33546218 12111489 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:1242 globe disease ISO RGD:1352344 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Globe disease PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:28041643|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:30718709|PMID:32860008|PMID:32869108|PMID:33546218 12111489 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:13399 color blindness ISO RGD:1352344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30418171 12111489 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:13399 color blindness susceptibility ISO RGD:1352344 D RGD:9068941 20200609 RGD DNA:mutations PMID:10958649|REF_RGD_ID:1600870 12111489 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:13911 achromatopsia ISO RGD:1352344 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:10888875|PMID:10958649|PMID:12187429|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15459792|PMID:15657609|PMID:15712225|PMID:1572225|PMID:16199547|PMID:16319819|PMID:16379026|PMID:17265047|PMID:17576681|PMID:17652762|PMID:19592100|PMID:20079539|PMID:22264887|PMID:22975760|PMID:22995991|PMID:23776498|PMID:23805033|PMID:24033266|PMID:24148654|PMID:24504161|PMID:25205868|PMID:25326637|PMID:25474149|PMID:25525159|PMID:25558176|PMID:25616768|PMID:25741868|PMID:25770143|PMID:26106334|PMID:26992781|PMID:27479814|PMID:27874104|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28492532|PMID:28795510|PMID:29186038|PMID:29769798|PMID:30418171|PMID:30718709|PMID:31456290|PMID:32860008|PMID:32869108|PMID:33546218|PMID:9536098 12111489 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:14791 Leber congenital amaurosis ISO RGD:1352344 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15459792|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:17576681|PMID:17652762|PMID:19592100|PMID:20079539|PMID:20574029|PMID:23805033|PMID:24033266|PMID:25558176|PMID:25741868|PMID:25770143|PMID:28041643|PMID:28492532|PMID:28795510|PMID:29769798|PMID:30718709|PMID:32860008|PMID:33546218|PMID:9536098 12111489 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:4448 macular degeneration ISO RGD:1352344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:17576681|PMID:28041643|PMID:28492532|PMID:28795510|PMID:9536098 12111489 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:630 genetic disease ISO RGD:1352344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15657609|PMID:25741868|PMID:26106334|PMID:28492532 12111489 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:8501 fundus dystrophy ISO RGD:1352344 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15459792|PMID:15657609|PMID:15712225|PMID:16199547|PMID:16319819|PMID:16379026|PMID:17265047|PMID:17576681|PMID:17652762|PMID:19592100|PMID:20079539|PMID:20574029|PMID:23805033|PMID:24033266|PMID:24148654|PMID:25205868|PMID:25525159|PMID:25558176|PMID:25741868|PMID:25770143|PMID:27479814|PMID:27874104|PMID:28041643|PMID:28492532|PMID:28795510|PMID:29186038|PMID:29769798|PMID:30718709|PMID:32860008|PMID:33546218|PMID:9536098 12111489 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:9003656 Achromatopsia 1 ISO RGD:1352344 D RGD:9068941 20200609 RGD DNA:deletion: :c.1148delC (human) PMID:17265047|REF_RGD_ID:9068446 12111489 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:9003656 Achromatopsia 1 ISO RGD:1557161 D RGD:9068941 20200609 RGD PMID:21576125|REF_RGD_ID:9068450 12111489 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:9003656 Achromatopsia 1 treatment ISO RGD:1352344 D RGD:9068941 20200609 RGD PMID:21576125|REF_RGD_ID:9068450 12111489 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1352344 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1 PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15223812|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:22975760|PMID:22995991|PMID:23776498|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25205868|PMID:25474149|PMID:25616768|PMID:25741868|PMID:25770143|PMID:26106334|PMID:28041643|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:30718709|PMID:32860008|PMID:32869108|PMID:33546218 12111489 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:9008296 Eye Abnormalities ISO RGD:1352344 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:28041643|PMID:28418496|PMID:28492532|PMID:28795510|PMID:29053603|PMID:30418171|PMID:30718709|PMID:32860008|PMID:32869108|PMID:33546218 12111489 CNGB3 cyclic nucleotide gated channel subunit beta 3 gene DOID:9650 pathologic nystagmus ISO RGD:1352344 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:10888875|PMID:10958649|PMID:15657609|PMID:15712225|PMID:17652762|PMID:20079539|PMID:25558176|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28795510|PMID:29769798 12111519 TUT7 terminal uridylyl transferase 7 gene DOID:630 genetic disease ISO RGD:1344359 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111559 TECR trans-2,3-enoyl-CoA reductase gene DOID:0081188 autosomal recessive intellectual developmental disorder 14 ISO RGD:733590 D RGD:7240710 20180130 OMIM 12111559 TECR trans-2,3-enoyl-CoA reductase gene DOID:0081188 autosomal recessive intellectual developmental disorder 14 ISO RGD:733590 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 14 PMID:11590547|PMID:21212097|PMID:22981120|PMID:24220030|PMID:25741868 12111559 TECR trans-2,3-enoyl-CoA reductase gene DOID:630 genetic disease ISO RGD:733590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12111576 TRIP10 thyroid hormone receptor interactor 10 gene DOID:0080490 mucolipidosis type IV ISO RGD:732056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12111576 TRIP10 thyroid hormone receptor interactor 10 gene DOID:12858 Huntington's disease ISO RGD:732056 D RGD:9068941 20200609 RGD protein:increased expression:striatum PMID:12604778|REF_RGD_ID:11535137 12111576 TRIP10 thyroid hormone receptor interactor 10 gene DOID:630 genetic disease ISO RGD:732056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111576 TRIP10 thyroid hormone receptor interactor 10 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:621145 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:26097534|REF_RGD_ID:11535148 12111598 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta gene DOID:0050962 spinocerebellar ataxia type 12 ISO RGD:1352838 D RGD:7240710 20180130 OMIM 12111598 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta gene DOID:0050962 spinocerebellar ataxia type 12 ISO RGD:1352838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PPP2R2B-Related Disorder | ClinVar Annotator: match by term: Spinocerebellar ataxia type 12 PMID:25741868 12111598 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352838 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12111598 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta gene DOID:10652 Alzheimer's disease ISO RGD:1352838 D RGD:9068941 20200609 RGD DNA:repeat PMID:21029765|REF_RGD_ID:5686295 12111598 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta gene DOID:1612 breast cancer disease_progression ISO RGD:1352838 D RGD:9068941 20200609 RGD DNA:SNP: :rs319217 (human) PMID:20669227|REF_RGD_ID:5686296 12111598 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta gene DOID:630 genetic disease ISO RGD:1352838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111598 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1352838 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18940801 12111598 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1352838 D RGD:9068941 20200609 RGD DNA:repeat, SNPs, haplotype:multiple PMID:20629122|REF_RGD_ID:5686297 12111598 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12111598 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352838 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12111598 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta gene DOID:9008086 Developmental Disabilities ISO RGD:1352838 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12111598 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta gene DOID:9074 systemic lupus erythematosus ISO RGD:1352838 D RGD:9068941 20200609 RGD PMID:21746932|REF_RGD_ID:5686291 12111598 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta gene DOID:936 brain disease ISO RGD:1352838 D RGD:9068941 20200609 RGD PMID:21471219|REF_RGD_ID:5686294 12111640 USO1 USO1 vesicle transport factor gene DOID:37 skin disease ISO RGD:733099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12111640 USO1 USO1 vesicle transport factor gene DOID:891 progressive myoclonus epilepsy ISO RGD:733099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 12111640 USO1 USO1 vesicle transport factor gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:733099 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12111640 USO1 USO1 vesicle transport factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:733099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12111640 USO1 USO1 vesicle transport factor gene DOID:9007964 Arsenic Poisoning ISO RGD:733099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12111674 DNPEP aspartyl aminopeptidase gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1313575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12111674 DNPEP aspartyl aminopeptidase gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1313575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12111674 DNPEP aspartyl aminopeptidase gene DOID:0111214 distal spinal muscular atrophy type 5 ISO RGD:1313575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Young adult-onset distal hereditary motor neuropathy PMID:28492532 12111674 DNPEP aspartyl aminopeptidase gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1313575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12111674 DNPEP aspartyl aminopeptidase gene DOID:1148 polydactyly ISO RGD:1313575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 12111674 DNPEP aspartyl aminopeptidase gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1313575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12111674 DNPEP aspartyl aminopeptidase gene DOID:630 genetic disease ISO RGD:1313575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111674 DNPEP aspartyl aminopeptidase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12111697 RANBP6 RAN binding protein 6 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1313031 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12111697 RANBP6 RAN binding protein 6 gene DOID:630 genetic disease ISO RGD:1313031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111708 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:0080074 neural tube defect ISO RGD:734121 D RGD:9068941 20200609 RGD PMID:11823447|REF_RGD_ID:734781 12111708 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:734120 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12111708 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:0110113 atrial heart septal defect 8 ISO RGD:734120 D RGD:7240710 20180130 OMIM 12111708 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:0110113 atrial heart septal defect 8 ISO RGD:734120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect 8 PMID:16287139|PMID:25741868 12111708 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:14566 disease of cellular proliferation ISO RGD:734120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21660965 12111708 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:1657 ventricular septal defect ISO RGD:734120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12111708 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:1681 heart septal defect ISO RGD:734120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16287139 12111708 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:1682 congenital heart disease ISO RGD:734121 D RGD:9068941 20200609 RGD PMID:11823447|REF_RGD_ID:734781 12111708 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:2316 brain ischemia ISO RGD:620112 D RGD:9068941 20200609 RGD PMID:16434029|REF_RGD_ID:1581188 12111708 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:3347 osteosarcoma ISO RGD:620112 D RGD:9068941 20200609 RGD DNA:deletion (rat) PMID:19825367|REF_RGD_ID:5147850 12111708 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:630 genetic disease ISO RGD:734120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111708 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:6419 tetralogy of Fallot ISO RGD:734121 D RGD:9068941 20220825 MouseDO OMIM:187500 12111708 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:767 muscular atrophy ISO RGD:734120 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19032942 12111708 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:9005639 Mandibular Fractures ISO RGD:620112 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone PMID:19607804|REF_RGD_ID:5147852 12111708 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:9007054 Ventricular Septal Defect 2 ISO RGD:734120 D RGD:7240710 20180130 OMIM 12111708 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:9007054 Ventricular Septal Defect 2 ISO RGD:734120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular septal defect 2 PMID:16287139 12111714 GPC5 glypican 5 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1318835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 12111714 GPC5 glypican 5 gene DOID:1184 nephrotic syndrome ISO RGD:1318835 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21441931 12111714 GPC5 glypican 5 gene DOID:630 genetic disease ISO RGD:1318835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111714 GPC5 glypican 5 gene DOID:9001542 Albuminuria ISO RGD:1318835 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21441931 12111726 CENPJ centromere protein J gene DOID:0050453 lissencephaly ISO RGD:1321379 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:16900296|PMID:20301772|PMID:25741868 12111726 CENPJ centromere protein J gene DOID:0050569 Seckel syndrome ISO RGD:1321379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome PMID:18414213|PMID:25741868|PMID:28492532 12111726 CENPJ centromere protein J gene DOID:0070007 Seckel syndrome 1 ISO RGD:1321379 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seckel syndrome 1 PMID:18414213|PMID:20301772|PMID:20978018|PMID:25741868|PMID:28492532 12111726 CENPJ centromere protein J gene DOID:0070010 Seckel syndrome 4 ISO RGD:1321379 D RGD:7240710 20180130 OMIM 12111726 CENPJ centromere protein J gene DOID:0070010 Seckel syndrome 4 ISO RGD:1321379 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seckel syndrome 4 PMID:18414213|PMID:20301772|PMID:20522431|PMID:20978018|PMID:24033266|PMID:24402816|PMID:25741868|PMID:26467025|PMID:26752647|PMID:28492532 12111726 CENPJ centromere protein J gene DOID:0070012 Seckel syndrome 5 ISO RGD:1321379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome 5 12111726 CENPJ centromere protein J gene DOID:0070285 primary autosomal recessive microcephaly 1 ISO RGD:1321379 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:12843329|PMID:15793586|PMID:20301772|PMID:22775483|PMID:25741868 12111726 CENPJ centromere protein J gene DOID:0070290 primary autosomal recessive microcephaly 6 ISO RGD:1321379 D RGD:7240710 20180130 OMIM 12111726 CENPJ centromere protein J gene DOID:0070290 primary autosomal recessive microcephaly 6 ISO RGD:1321379 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive PMID:12843329|PMID:15793586|PMID:16900296|PMID:18414213|PMID:20301772|PMID:20522431|PMID:20978018|PMID:22775483|PMID:24402816|PMID:25741868|PMID:26467025|PMID:26752647|PMID:28492532|PMID:32549991 12111726 CENPJ centromere protein J gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:1321379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary microcephaly PMID:18414213|PMID:24033266 12111726 CENPJ centromere protein J gene DOID:1059 intellectual disability ISO RGD:1321379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability, moderate PMID:15793586|PMID:16900296|PMID:20522431|PMID:25741868|PMID:28492532|PMID:32549991 12111726 CENPJ centromere protein J gene DOID:10907 microcephaly ISO RGD:1321379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary Microcephaly, Recessive PMID:18414213|PMID:25741868|PMID:28492532 12111726 CENPJ centromere protein J gene DOID:630 genetic disease ISO RGD:1321379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12111756 IFIT5 interferon induced protein with tetratricopeptide repeats 5 gene DOID:14497 Wolman disease ISO RGD:1348146 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:28492532 12111756 IFIT5 interferon induced protein with tetratricopeptide repeats 5 gene DOID:630 genetic disease ISO RGD:1348146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111756 IFIT5 interferon induced protein with tetratricopeptide repeats 5 gene DOID:9001488 Human Influenza ISO RGD:1348146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12111766 MMP16 matrix metallopeptidase 16 gene DOID:630 genetic disease ISO RGD:735917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111780 SOX2 SRY-box transcription factor 2 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:1344695 D RGD:9068941 20200609 RGD PMID:21689966|REF_RGD_ID:8661665 12111780 SOX2 SRY-box transcription factor 2 gene DOID:0060857 septooptic dysplasia ISO RGD:1344695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:16283891|PMID:16892407|PMID:16932809|PMID:18285410|PMID:18831064|PMID:24804704|PMID:25741868|PMID:26250054|PMID:27206652|PMID:28492532|PMID:35885948 12111780 SOX2 SRY-box transcription factor 2 gene DOID:0111546 Currarino syndrome ISO RGD:1344695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12111780 SOX2 SRY-box transcription factor 2 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1344695 D RGD:7240710 20180130 OMIM 12111780 SOX2 SRY-box transcription factor 2 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1344695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia | ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:12002146|PMID:12612584|PMID:15346919|PMID:15389708|PMID:15812812|PMID:16145681|PMID:16283891|PMID:16470798|PMID:16543359|PMID:16712695|PMID:16892407|PMID:16932809|PMID:17219395|PMID:17522144|PMID:18285410|PMID:18385377|PMID:18831064|PMID:19254784|PMID:19921648|PMID:20803647|PMID:21326281|PMID:22171155|PMID:22421044|PMID:23701296|PMID:24498598|PMID:24804704|PMID:25542770|PMID:25741868|PMID:26250054|PMID:26938784|PMID:27206652|PMID:27427475|PMID:28121235|PMID:28492532|PMID:30450772|PMID:32870266|PMID:33914258|PMID:35885948 12111780 SOX2 SRY-box transcription factor 2 gene DOID:10629 microphthalmia ISO RGD:1344695 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25741868 12111780 SOX2 SRY-box transcription factor 2 gene DOID:10811 nasal cavity cancer ISO RGD:1344695 D RGD:9068941 20200609 RGD DNA:amplification PMID:23544055|REF_RGD_ID:8661654 12111780 SOX2 SRY-box transcription factor 2 gene DOID:11054 urinary bladder cancer ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29396848 12111780 SOX2 SRY-box transcription factor 2 gene DOID:1115 sarcoma ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26343384 12111780 SOX2 SRY-box transcription factor 2 gene DOID:12270 coloboma ISO RGD:1344695 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chorioretinal coloboma PMID:25741868 12111780 SOX2 SRY-box transcription factor 2 gene DOID:12271 aniridia ISO RGD:1344695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 12111780 SOX2 SRY-box transcription factor 2 gene DOID:13938 amenorrhea ISO RGD:1344695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:28492532|PMID:32870266 12111780 SOX2 SRY-box transcription factor 2 gene DOID:1612 breast cancer disease_progression ISO RGD:1344695 D RGD:9068941 20200609 RGD PMID:21822303|PMID:22832207|REF_RGD_ID:8661657|REF_RGD_ID:8661663 12111780 SOX2 SRY-box transcription factor 2 gene DOID:1612 breast cancer treatment ISO RGD:1344695 D RGD:9068941 20200609 RGD PMID:22561374|REF_RGD_ID:8661656 12111780 SOX2 SRY-box transcription factor 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19801978 12111780 SOX2 SRY-box transcription factor 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1344695 D RGD:9068941 20200609 RGD protein:increased expression:mammalian vulva, epithelium PMID:23518916|REF_RGD_ID:8661666 12111780 SOX2 SRY-box transcription factor 2 gene DOID:1909 melanoma disease_progression ISO RGD:1344695 D RGD:9068941 20200609 RGD PMID:21410764|REF_RGD_ID:8661664 12111780 SOX2 SRY-box transcription factor 2 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1344695 D RGD:9068941 20200609 RGD PMID:22899292|REF_RGD_ID:8661672 12111780 SOX2 SRY-box transcription factor 2 gene DOID:3347 osteosarcoma ISO RGD:1344695 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34508303 12111780 SOX2 SRY-box transcription factor 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19801978 12111780 SOX2 SRY-box transcription factor 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25184679 12111780 SOX2 SRY-box transcription factor 2 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1344695 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 12111780 SOX2 SRY-box transcription factor 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 12111780 SOX2 SRY-box transcription factor 2 gene DOID:6000 congestive heart failure ISO RGD:1565646 D RGD:9068941 20230202 RGD PMID:34321385|REF_RGD_ID:155882552 12111780 SOX2 SRY-box transcription factor 2 gene DOID:630 genetic disease ISO RGD:1344695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12002146|PMID:12923055|PMID:16582099|PMID:16932809|PMID:17219395|PMID:22421044|PMID:24804704|PMID:28492532 12111780 SOX2 SRY-box transcription factor 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1558014 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:23169458|REF_RGD_ID:8661675 12111780 SOX2 SRY-box transcription factor 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1565646 D RGD:9068941 20200609 RGD PMID:23169458|REF_RGD_ID:8661675 12111780 SOX2 SRY-box transcription factor 2 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1344695 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:24382260|REF_RGD_ID:8661670 12111780 SOX2 SRY-box transcription factor 2 gene DOID:9002049 Anophthalmia ISO RGD:1344695 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Anophthalmia PMID:25741868 12111780 SOX2 SRY-box transcription factor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 12111780 SOX2 SRY-box transcription factor 2 gene DOID:9003623 Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System ISO RGD:1344695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Optic nerve hypoplasia and abnormalities of the central nervous system PMID:16932809|PMID:22421044|PMID:28492532 12111780 SOX2 SRY-box transcription factor 2 gene DOID:9004866 Ataxia ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29732603 12111780 SOX2 SRY-box transcription factor 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 12111780 SOX2 SRY-box transcription factor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19801978 12111780 SOX2 SRY-box transcription factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1565646 D RGD:9068941 20200609 RGD PMID:23828673|REF_RGD_ID:8661677 12111780 SOX2 SRY-box transcription factor 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1565646 D RGD:9068941 20230202 RGD PMID:34321385|REF_RGD_ID:155882552 12111780 SOX2 SRY-box transcription factor 2 gene DOID:9007502 Brain Neoplasms ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 12111780 SOX2 SRY-box transcription factor 2 gene DOID:9007920 Thoracic Neoplasms ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26343384 12111780 SOX2 SRY-box transcription factor 2 gene DOID:9008296 Eye Abnormalities ISO RGD:1344695 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.D123G (human) PMID:19471311|REF_RGD_ID:8661661 12111780 SOX2 SRY-box transcription factor 2 gene DOID:9008296 Eye Abnormalities ISO RGD:1344695 D RGD:9068941 20200609 RGD DNA:mutations: :multiple PMID:19921648|REF_RGD_ID:8661660 12111780 SOX2 SRY-box transcription factor 2 gene DOID:9008582 Developmental Disease ISO RGD:1344695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12111785 ARV1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1349198 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 12111785 ARV1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:0080417 developmental and epileptic encephalopathy 38 ISO RGD:1349198 D RGD:7240710 20190315 OMIM 12111785 ARV1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:0080417 developmental and epileptic encephalopathy 38 ISO RGD:1349198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 38 PMID:25558065|PMID:25741868|PMID:27270415|PMID:28492532|PMID:32165008 12111785 ARV1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:1432 blindness ISO RGD:1349198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blindness PMID:25558065|PMID:25741868|PMID:27270415 12111785 ARV1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:1540 parathyroid carcinoma ISO RGD:1349198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12111785 ARV1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:630 genetic disease ISO RGD:1349198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32165008 12111785 ARV1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:9006534 Nervous System Malformations ISO RGD:1349198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25558065|PMID:25741868|PMID:27270415 12111785 ARV1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1349198 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 12111785 ARV1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12111795 HKDC1 hexokinase domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:1354446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12111795 HKDC1 hexokinase domain containing 1 gene DOID:630 genetic disease ISO RGD:1354446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111795 HKDC1 hexokinase domain containing 1 gene DOID:9003318 Keratoconus 1 ISO RGD:1354446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 1 12111795 HKDC1 hexokinase domain containing 1 gene DOID:9003467 Retinitis Pigmentosa 92 ISO RGD:1354446 D RGD:7240710 20211201 OMIM 12111795 HKDC1 hexokinase domain containing 1 gene DOID:9003467 Retinitis Pigmentosa 92 ISO RGD:1354446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 92 PMID:30085091 12111795 HKDC1 hexokinase domain containing 1 gene DOID:9007661 Dwarfism ISO RGD:1354446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12111817 OR10G9C olfactory receptor family 10 subfamily G member 9C gene DOID:0110877 holoprosencephaly 11 ISO RGD:1349215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12111817 OR10G9C olfactory receptor family 10 subfamily G member 9C gene DOID:5419 schizophrenia ISO RGD:1349215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12111817 OR10G9C olfactory receptor family 10 subfamily G member 9C gene DOID:630 genetic disease ISO RGD:1349215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111817 OR10G9C olfactory receptor family 10 subfamily G member 9C gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12111817 OR10G9C olfactory receptor family 10 subfamily G member 9C gene DOID:9007661 Dwarfism ISO RGD:1349215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12111820 SLC5A11 solute carrier family 5 member 11 gene DOID:630 genetic disease ISO RGD:1347645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111844 MYO1D myosin ID gene DOID:12849 autistic disorder ISO RGD:1349117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17376794 12111844 MYO1D myosin ID gene DOID:630 genetic disease ISO RGD:1349117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111876 EOGT EGF domain specific O-linked N-acetylglucosamine transferase gene DOID:0060227 Adams-Oliver syndrome ISO RGD:1602633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome PMID:23522784|PMID:25558065|PMID:25741868 12111876 EOGT EGF domain specific O-linked N-acetylglucosamine transferase gene DOID:630 genetic disease ISO RGD:1602633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12111876 EOGT EGF domain specific O-linked N-acetylglucosamine transferase gene DOID:9002329 Adams-Oliver Syndrome 4 ISO RGD:1602633 D RGD:7240710 20180130 OMIM 12111876 EOGT EGF domain specific O-linked N-acetylglucosamine transferase gene DOID:9002329 Adams-Oliver Syndrome 4 ISO RGD:1602633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 4 PMID:16199547|PMID:17576681|PMID:23522784|PMID:23860037|PMID:25488668|PMID:25558065|PMID:25741868|PMID:28492532|PMID:29924900|PMID:31368252|PMID:31654484|PMID:34782754|PMID:9536098 12111911 SLITRK3 SLIT and NTRK like family member 3 gene DOID:1059 intellectual disability ISO RGD:1321448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12111911 SLITRK3 SLIT and NTRK like family member 3 gene DOID:630 genetic disease ISO RGD:1321448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111932 TRIP13 thyroid hormone receptor interactor 13 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1318331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 12111932 TRIP13 thyroid hormone receptor interactor 13 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1318331 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 12111932 TRIP13 thyroid hormone receptor interactor 13 gene DOID:0080600 COVID-19 ISO RGD:1318331 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12111932 TRIP13 thyroid hormone receptor interactor 13 gene DOID:0080688 mosaic variegated aneuploidy syndrome ISO RGD:1318331 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:28553959 12111932 TRIP13 thyroid hormone receptor interactor 13 gene DOID:0080689 mosaic variegated aneuploidy syndrome 3 ISO RGD:1318331 D RGD:7240710 20190315 OMIM 12111932 TRIP13 thyroid hormone receptor interactor 13 gene DOID:0080689 mosaic variegated aneuploidy syndrome 3 ISO RGD:1318331 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 3 PMID:25741868|PMID:28553959|PMID:32473092 12111932 TRIP13 thyroid hormone receptor interactor 13 gene DOID:2154 nephroblastoma ISO RGD:1318331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28553959 12111932 TRIP13 thyroid hormone receptor interactor 13 gene DOID:630 genetic disease ISO RGD:1318331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111932 TRIP13 thyroid hormone receptor interactor 13 gene DOID:684 hepatocellular carcinoma ISO RGD:1318331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12111932 TRIP13 thyroid hormone receptor interactor 13 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1318331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28553959 12111932 TRIP13 thyroid hormone receptor interactor 13 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1318331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 12111932 TRIP13 thyroid hormone receptor interactor 13 gene DOID:9006192 Oocyte/Zygote/Embryo Maturation Arrest 9 ISO RGD:1318331 D RGD:7240710 20200930 OMIM 12111932 TRIP13 thyroid hormone receptor interactor 13 gene DOID:9006192 Oocyte/Zygote/Embryo Maturation Arrest 9 ISO RGD:1318331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 9 PMID:25741868|PMID:32473092 12111932 TRIP13 thyroid hormone receptor interactor 13 gene DOID:9008692 Aneuploidy ISO RGD:1318331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28553959 12111949 FAM180A family with sequence similarity 180 member A gene DOID:289 endometriosis ISO RGD:1604688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12111949 FAM180A family with sequence similarity 180 member A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12111949 FAM180A family with sequence similarity 180 member A gene DOID:630 genetic disease ISO RGD:1604688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111949 FAM180A family with sequence similarity 180 member A gene DOID:684 hepatocellular carcinoma ISO RGD:1604688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12111956 SYPL2 synaptophysin like 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1603517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12111956 SYPL2 synaptophysin like 2 gene DOID:12849 autistic disorder ISO RGD:1603517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12111956 SYPL2 synaptophysin like 2 gene DOID:630 genetic disease ISO RGD:1603517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111966 SELENOW selenoprotein W gene DOID:1826 epilepsy ISO RGD:737006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19499324 12111966 SELENOW selenoprotein W gene DOID:630 genetic disease ISO RGD:737006 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111966 SELENOW selenoprotein W gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12111976 GOLT1B golgi transport 1B gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:1349948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532 12111976 GOLT1B golgi transport 1B gene DOID:630 genetic disease ISO RGD:1349948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111985 BEX3 brain expressed X-linked 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12111985 BEX3 brain expressed X-linked 3 gene DOID:11832 visual epilepsy treatment ISO RGD:3148 D RGD:9068941 20200609 RGD PMID:12873743|REF_RGD_ID:9743975 12111985 BEX3 brain expressed X-linked 3 gene DOID:12849 autistic disorder ISO RGD:735398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12111985 BEX3 brain expressed X-linked 3 gene DOID:1686 glaucoma ISO RGD:3148 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:19682984|REF_RGD_ID:9743977 12111985 BEX3 brain expressed X-linked 3 gene DOID:224 transient cerebral ischemia ISO RGD:3148 D RGD:9068941 20200609 RGD PMID:11124986|REF_RGD_ID:9743974 12111985 BEX3 brain expressed X-linked 3 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:735398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:31690835 12111985 BEX3 brain expressed X-linked 3 gene DOID:9008086 Developmental Disabilities ISO RGD:735398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12111994 DEFB134 defensin beta 134 gene DOID:14004 thoracic aortic aneurysm ISO RGD:2302256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:32748548 12111994 DEFB134 defensin beta 134 gene DOID:630 genetic disease ISO RGD:2302256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12111994 DEFB134 defensin beta 134 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2302256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12112002 ECPAS Ecm29 proteasome adaptor and scaffold gene DOID:630 genetic disease ISO RGD:1314598 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112056 TMEM267 transmembrane protein 267 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12112076 TMEM9 transmembrane protein 9 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1317397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12112076 TMEM9 transmembrane protein 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1317397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12112076 TMEM9 transmembrane protein 9 gene DOID:630 genetic disease ISO RGD:1317397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112076 TMEM9 transmembrane protein 9 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1317397 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12112076 TMEM9 transmembrane protein 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12112092 TMEM104 transmembrane protein 104 gene DOID:630 genetic disease ISO RGD:1606542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112186 RNASE9 ribonuclease A family member 9 (inactive) gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1343484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12112186 RNASE9 ribonuclease A family member 9 (inactive) gene DOID:630 genetic disease ISO RGD:1343484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112192 TMEM258 transmembrane protein 258 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1351820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12112192 TMEM258 transmembrane protein 258 gene DOID:1059 intellectual disability ISO RGD:1351820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12112192 TMEM258 transmembrane protein 258 gene DOID:630 genetic disease ISO RGD:1351820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112200 SYTL2 synaptotagmin like 2 gene DOID:0080600 COVID-19 ISO RGD:1316959 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12112200 SYTL2 synaptotagmin like 2 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1316959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 12112200 SYTL2 synaptotagmin like 2 gene DOID:1059 intellectual disability ISO RGD:1316959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12112200 SYTL2 synaptotagmin like 2 gene DOID:1558 angioedema ISO RGD:1316959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angioedema PMID:28327206 12112200 SYTL2 synaptotagmin like 2 gene DOID:630 genetic disease ISO RGD:1316959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112250 LOC100683646 EKC/KEOPS complex subunit LAGE3-like gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1344888 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12112250 LOC100683646 EKC/KEOPS complex subunit LAGE3-like gene DOID:0050476 Barth syndrome ISO RGD:1344888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12112250 LOC100683646 EKC/KEOPS complex subunit LAGE3-like gene DOID:0050800 creatine transporter deficiency ISO RGD:1344888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12112250 LOC100683646 EKC/KEOPS complex subunit LAGE3-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12112250 LOC100683646 EKC/KEOPS complex subunit LAGE3-like gene DOID:0112003 immunodeficiency 33 ISO RGD:1344888 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12112250 LOC100683646 EKC/KEOPS complex subunit LAGE3-like gene DOID:10588 adrenoleukodystrophy ISO RGD:1344888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12112250 LOC100683646 EKC/KEOPS complex subunit LAGE3-like gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1344888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12112250 LOC100683646 EKC/KEOPS complex subunit LAGE3-like gene DOID:12849 autistic disorder ISO RGD:1344888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12112250 LOC100683646 EKC/KEOPS complex subunit LAGE3-like gene DOID:13628 favism ISO RGD:1344888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12112250 LOC100683646 EKC/KEOPS complex subunit LAGE3-like gene DOID:2729 dyskeratosis congenita ISO RGD:1344888 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12112250 LOC100683646 EKC/KEOPS complex subunit LAGE3-like gene DOID:607 paraplegia ISO RGD:1344888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12112250 LOC100683646 EKC/KEOPS complex subunit LAGE3-like gene DOID:630 genetic disease ISO RGD:1344888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112250 LOC100683646 EKC/KEOPS complex subunit LAGE3-like gene DOID:9002720 Splenomegaly ISO RGD:1344888 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12112270 PNLIPRP1 pancreatic lipase related protein 1 gene DOID:10283 prostate cancer ISO RGD:732485 D RGD:9068941 20200609 RGD PMID:11384102|REF_RGD_ID:2302990 12112270 PNLIPRP1 pancreatic lipase related protein 1 gene DOID:630 genetic disease ISO RGD:732485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112287 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:1064 cystinosis ISO RGD:733197 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cystinosin, defect of | ClinVar Annotator: match by term: Nephropathic cystinosis PMID:10625078|PMID:10673275|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:21546516|PMID:27734949|PMID:9537412|PMID:9792862 12112287 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:11054 urinary bladder cancer ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19502594 12112287 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:11963 esophagitis ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16091555 12112287 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:14566 disease of cellular proliferation ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21349818 12112287 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:1936 atherosclerosis ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21908651 12112287 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:2548 reflex epilepsy treatment ISO RGD:628841 D RGD:9068941 20200618 RGD PMID:29105300|REF_RGD_ID:13450923 12112287 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20144892 12112287 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:3613 Canavan disease ISO RGD:733197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 12112287 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:4989 pancreatitis ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17698068 12112287 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:5844 myocardial infarction ISO RGD:628841 D RGD:9068941 20200609 RGD PMID:27671317|REF_RGD_ID:13792689 12112287 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:6050 esophageal disease ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19566590 12112287 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:630 genetic disease ISO RGD:733197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10909858|PMID:21546516|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 12112287 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:6364 migraine ISO RGD:733197 D RGD:9068941 20200609 RGD DNA:snp:intron:g.IVS2+2841C>T rs222741 (human) PMID:22162417|REF_RGD_ID:7175557 12112287 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:9000133 Sneezing ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27545873 12112287 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:9000641 Pain ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16996476|PMID:17575321|PMID:20422007|PMID:23006841 12112287 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043671 12112287 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:9002211 Hyperalgesia ISO RGD:628841 D RGD:9068941 20200609 RGD associated with inflammation;protein:increased expression:dorsal root ganglion: PMID:21958434|REF_RGD_ID:8657122 12112287 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:9002211 Hyperalgesia ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151517|PMID:18234885|PMID:18774343|PMID:23006841 12112287 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type ISO RGD:733197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE PMID:10625078|PMID:10673275|PMID:10909858|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:21546516|PMID:27102039|PMID:27734949|PMID:28492532|PMID:7668285|PMID:9537412|PMID:9792862 12112287 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:9003181 Heartburn ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19566590 12112287 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:9004409 Abderhalden-Kaufmann-Lignac Syndrome ISO RGD:733197 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome PMID:10625078|PMID:10673275|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:27734949|PMID:9537412|PMID:9792862 12112287 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:9005372 Inflammation ISO RGD:628841 D RGD:9068941 20200609 RGD protein:increased expression:hindpaw: PMID:21958434|REF_RGD_ID:8657122 12112287 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:9005372 Inflammation ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17575321|PMID:20712533 12112287 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:9007073 Cough ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27545873 12112287 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:733197 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:32751388 12112287 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:733197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic PMID:10625078|PMID:10673275|PMID:10909858|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:21546516|PMID:27102039|PMID:27734949|PMID:28492532|PMID:7668285|PMID:9537412|PMID:9792862 12112287 TRPV1 transient receptor potential cation channel subfamily V member 1 gene DOID:9970 obesity ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17347480 12112315 SNRNP27 small nuclear ribonucleoprotein U4/U6.U5 subunit 27 gene DOID:0060224 atrial fibrillation ISO RGD:1605404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12112315 SNRNP27 small nuclear ribonucleoprotein U4/U6.U5 subunit 27 gene DOID:630 genetic disease ISO RGD:1605404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112325 ATP5F1D ATP synthase F1 subunit delta gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1353040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 12112325 ATP5F1D ATP synthase F1 subunit delta gene DOID:0060180 colitis treatment ISO RGD:621372 D RGD:9068941 20200609 RGD PMID:23840258|REF_RGD_ID:13792680 12112325 ATP5F1D ATP synthase F1 subunit delta gene DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 ISO RGD:1353040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Decreased activity of mitochondrial ATP synthase complex PMID:29478781 12112325 ATP5F1D ATP synthase F1 subunit delta gene DOID:10652 Alzheimer's disease ISO RGD:1353040 D RGD:9068941 20200609 RGD PMID:28474567|REF_RGD_ID:13792588 12112325 ATP5F1D ATP synthase F1 subunit delta gene DOID:11054 urinary bladder cancer ISO RGD:1353040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 12112325 ATP5F1D ATP synthase F1 subunit delta gene DOID:5339 cyclic hematopoiesis ISO RGD:1353040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12112325 ATP5F1D ATP synthase F1 subunit delta gene DOID:5844 myocardial infarction ISO RGD:621372 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium (rat) PMID:29300489|REF_RGD_ID:13792656 12112325 ATP5F1D ATP synthase F1 subunit delta gene DOID:5844 myocardial infarction treatment ISO RGD:621372 D RGD:9068941 20200609 RGD PMID:23809007|REF_RGD_ID:13792681 12112325 ATP5F1D ATP synthase F1 subunit delta gene DOID:630 genetic disease ISO RGD:1353040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112325 ATP5F1D ATP synthase F1 subunit delta gene DOID:700 mitochondrial metabolism disease ISO RGD:1353040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:29478781 12112325 ATP5F1D ATP synthase F1 subunit delta gene DOID:9000815 Aortic Calcification treatment ISO RGD:621372 D RGD:9068941 20200609 RGD associated with Hypercholesterolemia PMID:26047104|REF_RGD_ID:11057945 12112325 ATP5F1D ATP synthase F1 subunit delta gene DOID:9003936 Cardiomegaly treatment ISO RGD:621372 D RGD:9068941 20200609 RGD PMID:25880160|REF_RGD_ID:13792672 12112325 ATP5F1D ATP synthase F1 subunit delta gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:621372 D RGD:9068941 20200609 RGD PMID:25738576|REF_RGD_ID:13792675 12112325 ATP5F1D ATP synthase F1 subunit delta gene DOID:9005595 Mitochondrial Complex V (ATP Synthase) Deficiency Nuclear Type 5 ISO RGD:1353040 D RGD:7240710 20190315 OMIM 12112325 ATP5F1D ATP synthase F1 subunit delta gene DOID:9005595 Mitochondrial Complex V (ATP Synthase) Deficiency Nuclear Type 5 ISO RGD:1353040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5F1D TYPE | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 PMID:25741868|PMID:28492532|PMID:29478781 12112325 ATP5F1D ATP synthase F1 subunit delta gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:621372 D RGD:9068941 20200609 RGD PMID:24232000|REF_RGD_ID:13792678 12112325 ATP5F1D ATP synthase F1 subunit delta gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:621372 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium (rat) PMID:25305180|REF_RGD_ID:13792676 12112325 ATP5F1D ATP synthase F1 subunit delta gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:621372 D RGD:9068941 20200609 RGD PMID:26109848|REF_RGD_ID:13792666 12112325 ATP5F1D ATP synthase F1 subunit delta gene DOID:9970 obesity treatment ISO RGD:621372 D RGD:9068941 20200609 RGD PMID:27874268|REF_RGD_ID:13792665 12112333 GLG1 golgi glycoprotein 1 gene DOID:607 paraplegia ISO RGD:734388 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12112333 GLG1 golgi glycoprotein 1 gene DOID:630 genetic disease ISO RGD:734388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112333 GLG1 golgi glycoprotein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12112363 BCAS3 BCAS3 microtubule associated cell migration factor gene DOID:0050777 Joubert syndrome ISO RGD:1319844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12112363 BCAS3 BCAS3 microtubule associated cell migration factor gene DOID:11372 megacolon ISO RGD:1319844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12112363 BCAS3 BCAS3 microtubule associated cell migration factor gene DOID:1612 breast cancer ISO RGD:1319844 D RGD:9068941 20200609 RGD PMID:16855396|REF_RGD_ID:2317828 12112363 BCAS3 BCAS3 microtubule associated cell migration factor gene DOID:630 genetic disease ISO RGD:1319844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112363 BCAS3 BCAS3 microtubule associated cell migration factor gene DOID:9005952 HENGEL-MAROOFIAN-SCHOLS SYNDROME ISO RGD:1319844 D RGD:7240710 20220209 OMIM 12112363 BCAS3 BCAS3 microtubule associated cell migration factor gene DOID:9005952 HENGEL-MAROOFIAN-SCHOLS SYNDROME ISO RGD:1319844 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hengel-Maroofian-Schols syndrome PMID:25741868|PMID:34022130 12112363 BCAS3 BCAS3 microtubule associated cell migration factor gene DOID:9008086 Developmental Disabilities ISO RGD:1319844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:34022130 12112408 SLC24A2 solute carrier family 24 member 2 gene DOID:630 genetic disease ISO RGD:730928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112426 SHB SH2 domain containing adaptor protein B gene DOID:630 genetic disease ISO RGD:1350494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112436 OR5F2 olfactory receptor family 5 subfamily F member 2 gene DOID:1059 intellectual disability ISO RGD:1351053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12112436 OR5F2 olfactory receptor family 5 subfamily F member 2 gene DOID:630 genetic disease ISO RGD:1351053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112440 CNTNAP5 contactin associated protein family member 5 gene DOID:630 genetic disease ISO RGD:1313519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112472 TTLL3 tubulin tyrosine ligase like 3 gene DOID:2843 long QT syndrome ISO RGD:1322614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12112472 TTLL3 tubulin tyrosine ligase like 3 gene DOID:630 genetic disease ISO RGD:1322614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112472 TTLL3 tubulin tyrosine ligase like 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12112472 TTLL3 tubulin tyrosine ligase like 3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1322614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12112489 VILL villin like gene DOID:0050451 Brugada syndrome ISO RGD:1347824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 12112489 VILL villin like gene DOID:630 genetic disease ISO RGD:1347824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112489 VILL villin like gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1347824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 12112508 ISM1 isthmin 1 gene DOID:630 genetic disease ISO RGD:1351413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112521 HNF4G hepatocyte nuclear factor 4 gamma gene DOID:630 genetic disease ISO RGD:1320814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112541 MAPKBP1 mitogen-activated protein kinase binding protein 1 gene DOID:0111127 nephronophthisis 20 ISO RGD:1604640 D RGD:7240710 20190315 OMIM 12112541 MAPKBP1 mitogen-activated protein kinase binding protein 1 gene DOID:0111127 nephronophthisis 20 ISO RGD:1604640 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 20 PMID:25741868|PMID:28089251|PMID:28492532|PMID:32055034 12112541 MAPKBP1 mitogen-activated protein kinase binding protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1604640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12112541 MAPKBP1 mitogen-activated protein kinase binding protein 1 gene DOID:630 genetic disease ISO RGD:1604640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12112541 MAPKBP1 mitogen-activated protein kinase binding protein 1 gene DOID:9256 colorectal cancer ISO RGD:1604640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12112585 CRYGD crystallin, gamma D gene DOID:0110234 cataract 4 multiple types ISO RGD:735833 D RGD:7240710 20180130 OMIM 12112585 CRYGD crystallin, gamma D gene DOID:0110234 cataract 4 multiple types ISO RGD:735833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 4 | ClinVar Annotator: match by term: Cataract 4 multiple types PMID:10521291|PMID:10688888|PMID:10915766|PMID:11371638|PMID:12011157|PMID:12676897|PMID:16446699|PMID:17564961|PMID:17724170|PMID:19382745|PMID:19390652|PMID:19668596|PMID:21827768|PMID:22995991|PMID:25403472|PMID:25741868|PMID:26694549|PMID:28450710|PMID:28474685|PMID:28492532|PMID:9927684 12112585 CRYGD crystallin, gamma D gene DOID:0110235 cataract 2 multiple types ISO RGD:10409 D RGD:9068941 20220825 MouseDO OMIM:604307 12112585 CRYGD crystallin, gamma D gene DOID:0110260 cataract 7 susceptibility ISO RGD:735833 D RGD:9068941 20200609 RGD DNA:transversion:exon:p.P23T (human) PMID:12676897|REF_RGD_ID:1601016 12112585 CRYGD crystallin, gamma D gene DOID:0110986 Joubert Syndrome 17 ISO RGD:735833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:19390652|PMID:22995991|PMID:25741868|PMID:28492532 12112585 CRYGD crystallin, gamma D gene DOID:14557 primary pulmonary hypertension ISO RGD:735833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12112585 CRYGD crystallin, gamma D gene DOID:630 genetic disease ISO RGD:735833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28166811|PMID:28492532 12112585 CRYGD crystallin, gamma D gene DOID:83 cataract ISO RGD:735833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract PMID:12011157|PMID:12676897|PMID:17724170|PMID:21827768|PMID:25403472|PMID:26694549|PMID:28474685|PMID:28492532 12112585 CRYGD crystallin, gamma D gene DOID:9001574 Crystalline Aculeiform Cataract ISO RGD:735833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aculeiform cataract PMID:10521291|PMID:10688888|PMID:10704279|PMID:11371638|PMID:12011157|PMID:12676897|PMID:16446699|PMID:17724170|PMID:19382745|PMID:19390652|PMID:19668596|PMID:21827768|PMID:22995991|PMID:25403472|PMID:25741868|PMID:26694549|PMID:27455011|PMID:28166811|PMID:28450710|PMID:28474685|PMID:28492532|PMID:9927684 12112585 CRYGD crystallin, gamma D gene DOID:9002189 High Myopia ISO RGD:735833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532 12112585 CRYGD crystallin, gamma D gene DOID:9003568 Cataract, Congenital Dominant Non Nuclear ISO RGD:735833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonnuclear polymorphic congenital cataract PMID:12011157|PMID:12676897|PMID:17724170|PMID:21827768|PMID:25403472|PMID:26694549|PMID:28474685|PMID:28492532 12112585 CRYGD crystallin, gamma D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12112585 CRYGD crystallin, gamma D gene DOID:9005369 Hepatomegaly ISO RGD:735833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12112596 TANGO6 transport and golgi organization 6 homolog gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1606243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12112596 TANGO6 transport and golgi organization 6 homolog gene DOID:2661 myoepithelioma ISO RGD:1606243 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12112596 TANGO6 transport and golgi organization 6 homolog gene DOID:630 genetic disease ISO RGD:1606243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112630 CDIP1 cell death inducing p53 target 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1321732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12112630 CDIP1 cell death inducing p53 target 1 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1321732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 12112630 CDIP1 cell death inducing p53 target 1 gene DOID:1826 epilepsy ISO RGD:1321732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12112630 CDIP1 cell death inducing p53 target 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1321732 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12112630 CDIP1 cell death inducing p53 target 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1321732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12112630 CDIP1 cell death inducing p53 target 1 gene DOID:630 genetic disease ISO RGD:1321732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112650 CLUH clustered mitochondria homolog gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1601881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:25741868 12112650 CLUH clustered mitochondria homolog gene DOID:10487 Hirschsprung's disease ISO RGD:1601881 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 12112650 CLUH clustered mitochondria homolog gene DOID:630 genetic disease ISO RGD:1601881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112689 TGIF2LX TGFB induced factor homeobox 2 like X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12112689 TGIF2LX TGFB induced factor homeobox 2 like X-linked gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1351295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:25741868 12112689 TGIF2LX TGFB induced factor homeobox 2 like X-linked gene DOID:12849 autistic disorder ISO RGD:1351295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12112689 TGIF2LX TGFB induced factor homeobox 2 like X-linked gene DOID:630 genetic disease ISO RGD:1351295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112694 ARMCX3 armadillo repeat containing X-linked 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12112694 ARMCX3 armadillo repeat containing X-linked 3 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1604814 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 12112694 ARMCX3 armadillo repeat containing X-linked 3 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1604814 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 12112694 ARMCX3 armadillo repeat containing X-linked 3 gene DOID:12849 autistic disorder ISO RGD:1604814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12112694 ARMCX3 armadillo repeat containing X-linked 3 gene DOID:630 genetic disease ISO RGD:1604814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112707 NKAP NFKB activating protein gene DOID:0050437 Danon disease ISO RGD:1606506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 12112707 NKAP NFKB activating protein gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12112707 NKAP NFKB activating protein gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1606506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 12112707 NKAP NFKB activating protein gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1606506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 12112707 NKAP NFKB activating protein gene DOID:12849 autistic disorder ISO RGD:1606506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12112707 NKAP NFKB activating protein gene DOID:630 genetic disease ISO RGD:1606506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:31587868 12112707 NKAP NFKB activating protein gene DOID:9001354 DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY ISO RGD:1606506 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy PMID:25741868 12112707 NKAP NFKB activating protein gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1606506 D RGD:9068941 20221110 RGD DNA:missense mutations:exon 8-9:multiple (human) PMID:31587868|REF_RGD_ID:155641252 12112707 NKAP NFKB activating protein gene DOID:9007858 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE ISO RGD:1606506 D RGD:7240710 20200722 OMIM 12112707 NKAP NFKB activating protein gene DOID:9007858 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE ISO RGD:1606506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type PMID:25741868|PMID:26358559|PMID:31587868 12112707 NKAP NFKB activating protein gene DOID:9008086 Developmental Disabilities ISO RGD:1606506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12112722 ARHGEF10 Rho guanine nucleotide exchange factor 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1623777 D RGD:9068941 20220825 MouseDO 12112722 ARHGEF10 Rho guanine nucleotide exchange factor 10 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1346816 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:24627108|PMID:25025039|PMID:25164601|PMID:25741868|PMID:26558264|PMID:28492532 12112722 ARHGEF10 Rho guanine nucleotide exchange factor 10 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:15024724|PMID:28116333|PMID:28492532 12112722 ARHGEF10 Rho guanine nucleotide exchange factor 10 gene DOID:423 myopathy ISO RGD:1346816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 12112722 ARHGEF10 Rho guanine nucleotide exchange factor 10 gene DOID:630 genetic disease ISO RGD:1346816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12112722 ARHGEF10 Rho guanine nucleotide exchange factor 10 gene DOID:7319 axonal neuropathy ISO RGD:1346816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy PMID:25741868 12112722 ARHGEF10 Rho guanine nucleotide exchange factor 10 gene DOID:9002402 Slowed Nerve Conduction Velocity, Autosomal Dominant IAGP D RGD:12801476 20210603 OMIA Polyneuropathy, ARHGEF10-related PMID:12661049|PMID:20638305|PMID:25275565|PMID:21985135 12112722 ARHGEF10 Rho guanine nucleotide exchange factor 10 gene DOID:9002402 Slowed Nerve Conduction Velocity, Autosomal Dominant ISO RGD:1346816 D RGD:7240710 20180130 OMIM 12112722 ARHGEF10 Rho guanine nucleotide exchange factor 10 gene DOID:9002402 Slowed Nerve Conduction Velocity, Autosomal Dominant ISO RGD:1346816 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant slowed nerve conduction velocity PMID:14508709|PMID:21719701|PMID:25025039|PMID:25164601|PMID:25741868|PMID:26558264|PMID:28492532|PMID:29653320|PMID:9678704 12112763 FAM83C family with sequence similarity 83 member C gene DOID:10283 prostate cancer ISO RGD:1344185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12112763 FAM83C family with sequence similarity 83 member C gene DOID:630 genetic disease ISO RGD:1344185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112775 IL1RL2 interleukin 1 receptor like 2 gene DOID:0080685 aortic dissection ISO RGD:1353187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:34409081 12112775 IL1RL2 interleukin 1 receptor like 2 gene DOID:630 genetic disease ISO RGD:1353187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112775 IL1RL2 interleukin 1 receptor like 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:621782 D RGD:9068941 20210514 RGD compared to Wild Type in cardiopulmonary bypass model PMID:32048631|REF_RGD_ID:126925167 12112801 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1344496 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 12112801 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1344496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12112801 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:0110266 cataract 9 multiple types ISO RGD:1344496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12112801 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:0110540 autosomal recessive nonsyndromic deafness 98 ISO RGD:1344496 D RGD:7240710 20180130 OMIM 12112801 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:0110540 autosomal recessive nonsyndromic deafness 98 ISO RGD:1344496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 98 PMID:22678063|PMID:24033266|PMID:25741868|PMID:25855803|PMID:26467025|PMID:27736875|PMID:28492532|PMID:29144512|PMID:30046887|PMID:34042254 12112801 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:0111662 ectodermal dysplasia 14 ISO RGD:1344496 D RGD:7240710 20190315 OMIM 12112801 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:0111662 ectodermal dysplasia 14 ISO RGD:1344496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | ClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type, with hypohidrosis | ClinVar Annotator: match by term: TSPEAR-related disorder of tooth and hair follicle morphogenesis PMID:17576681|PMID:22678063|PMID:24033266|PMID:25741868|PMID:25855803|PMID:26467025|PMID:27736875|PMID:28492532|PMID:29144512|PMID:30046887|PMID:32112661|PMID:34042254|PMID:35741818|PMID:9536098 12112801 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:12849 autistic disorder ISO RGD:1344496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12112801 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:2661 myoepithelioma ISO RGD:1344496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12112801 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:3007 breast ductal carcinoma ISO RGD:1344496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12112801 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:630 genetic disease ISO RGD:1344496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22678063|PMID:24033266|PMID:25741868|PMID:25855803|PMID:26467025|PMID:26969326|PMID:27736875|PMID:28492532|PMID:29144512|PMID:30046887|PMID:32112661|PMID:34042254 12112801 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:891 progressive myoclonus epilepsy ISO RGD:1344496 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12112801 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:9003044 Selective Tooth Agenesis 10 ISO RGD:1344496 D RGD:7240710 20230104 OMIM 12112801 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:9003044 Selective Tooth Agenesis 10 ISO RGD:1344496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 10 PMID:22678063|PMID:24033266|PMID:25741868|PMID:25855803|PMID:26467025|PMID:27736875|PMID:28492532|PMID:29144512|PMID:30046887|PMID:32112661|PMID:34042254 12112801 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12112801 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:9004538 Hearing Loss ISO RGD:1344496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 12112801 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:9263 homocystinuria ISO RGD:1344496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12112801 TSPEAR thrombospondin type laminin G domain and EAR repeats gene DOID:9562 primary ciliary dyskinesia ISO RGD:1344496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12112810 WHRN whirlin gene DOID:0050439 Usher syndrome ISO RGD:1349509 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Usher syndrome PMID:21569298|PMID:24033266|PMID:25741868|PMID:28492532 12112810 WHRN whirlin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1349509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:30303587 12112810 WHRN whirlin gene DOID:0050630 Aland Island eye disease ISO RGD:1349509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ocular albinism, type II PMID:28492532|PMID:30718709 12112810 WHRN whirlin gene DOID:0110490 autosomal recessive nonsyndromic deafness 31 ISO RGD:1349509 D RGD:7240710 20180130 OMIM 12112810 WHRN whirlin gene DOID:0110490 autosomal recessive nonsyndromic deafness 31 ISO RGD:1349509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 31 | ClinVar Annotator: match by term: WHIRLER, MOUSE, HOMOLOG OF PMID:11973626|PMID:12833159|PMID:15841483|PMID:17576681|PMID:20352026|PMID:21569298|PMID:21654738|PMID:22135276|PMID:22147658|PMID:23804846|PMID:24033266|PMID:25262649|PMID:25404053|PMID:25468891|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30245029|PMID:30311386|PMID:31541171|PMID:9536098 12112810 WHRN whirlin gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1349509 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:21569298|PMID:24033266|PMID:25741868|PMID:28492532 12112810 WHRN whirlin gene DOID:0110840 Usher syndrome type 2D ISO RGD:1349509 D RGD:7240710 20180130 OMIM 12112810 WHRN whirlin gene DOID:0110840 Usher syndrome type 2D ISO RGD:1349509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID | ClinVar Annotator: match by term: Usher syndrome type 2D PMID:12833159|PMID:15841483|PMID:17171570|PMID:17576681|PMID:20352026|PMID:21569298|PMID:21654738|PMID:22135276|PMID:22147658|PMID:23804846|PMID:24033266|PMID:25262649|PMID:25404053|PMID:25468891|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30245029|PMID:30311386|PMID:9536098 12112810 WHRN whirlin gene DOID:10003 sensorineural hearing loss ISO RGD:1349509 D RGD:9068941 20200609 RGD PMID:12833159|REF_RGD_ID:1580603 12112810 WHRN whirlin gene DOID:10003 sensorineural hearing loss ISO RGD:1553310 D RGD:9068941 20200609 RGD PMID:12833159|REF_RGD_ID:1580603 12112810 WHRN whirlin gene DOID:630 genetic disease ISO RGD:1349509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12112810 WHRN whirlin gene DOID:8501 fundus dystrophy ISO RGD:1349509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24033266|PMID:27208204|PMID:28492532 12112810 WHRN whirlin gene DOID:9004538 Hearing Loss ISO RGD:1349509 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:20352026|PMID:22135276|PMID:23804846|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 12112810 WHRN whirlin gene DOID:9008681 Deafness ISO RGD:1349509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 12112833 RTL3 retrotransposon Gag like 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12112833 RTL3 retrotransposon Gag like 3 gene DOID:12849 autistic disorder ISO RGD:1346934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12112833 RTL3 retrotransposon Gag like 3 gene DOID:630 genetic disease ISO RGD:1346934 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112841 TMED3 transmembrane p24 trafficking protein 3 gene DOID:2717 Bloom syndrome ISO RGD:1347293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12112841 TMED3 transmembrane p24 trafficking protein 3 gene DOID:630 genetic disease ISO RGD:1347293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112841 TMED3 transmembrane p24 trafficking protein 3 gene DOID:9256 colorectal cancer ISO RGD:1347293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12112849 CTXN2 cortexin 2 gene DOID:14323 Marfan syndrome ISO RGD:1351200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:21063442|PMID:25741868|PMID:26787436|PMID:28492532 12112849 CTXN2 cortexin 2 gene DOID:2717 Bloom syndrome ISO RGD:1351200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12112849 CTXN2 cortexin 2 gene DOID:630 genetic disease ISO RGD:1351200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112849 CTXN2 cortexin 2 gene DOID:9256 colorectal cancer ISO RGD:1351200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 12112864 HBM hemoglobin subunit mu gene DOID:1099 alpha thalassemia ISO RGD:1348198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: alpha Thalassemia PMID:10602170|PMID:11017952|PMID:24025420|PMID:28791910|PMID:2986746|PMID:3191033|PMID:6158051 12112864 HBM hemoglobin subunit mu gene DOID:630 genetic disease ISO RGD:1348198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112877 ZNF391 zinc finger protein 391 gene DOID:630 genetic disease ISO RGD:1606101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112959 ELANE elastase, neutrophil expressed gene DOID:0050073 invasive aspergillosis ISO RGD:1624045 D RGD:9068941 20200609 RGD PMID:24054721|REF_RGD_ID:10450528 12112959 ELANE elastase, neutrophil expressed gene DOID:0050590 severe congenital neutropenia ISO RGD:1317469 D RGD:9068941 20200609 RGD PMID:10581030|REF_RGD_ID:1598891 12112959 ELANE elastase, neutrophil expressed gene DOID:0050590 severe congenital neutropenia ISO RGD:1317469 D RGD:9068941 20200609 RGD DNA:mutation:intron:c.597+1G>A (human) PMID:24616599|REF_RGD_ID:10450514 12112959 ELANE elastase, neutrophil expressed gene DOID:0050590 severe congenital neutropenia ISO RGD:1317469 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:21425445|REF_RGD_ID:10450519 12112959 ELANE elastase, neutrophil expressed gene DOID:0050590 severe congenital neutropenia ISO RGD:1317469 D RGD:9068941 20200609 RGD mRNA:decreased expression:myeloid CD33+ cell: PMID:19620402|REF_RGD_ID:10450525 12112959 ELANE elastase, neutrophil expressed gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1317469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 12112959 ELANE elastase, neutrophil expressed gene DOID:0080178 mucositis ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:9823937|REF_RGD_ID:10450554 12112959 ELANE elastase, neutrophil expressed gene DOID:0080600 COVID-19 ISO RGD:1317469 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 12112959 ELANE elastase, neutrophil expressed gene DOID:0080625 severe congenital neutropenia 1 ISO RGD:1317469 D RGD:7240710 20180130 OMIM 12112959 ELANE elastase, neutrophil expressed gene DOID:0080625 severe congenital neutropenia 1 ISO RGD:1317469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant PMID:10581030|PMID:11001877|PMID:11675333|PMID:14962902|PMID:15657182|PMID:16079102|PMID:16551967|PMID:16737875|PMID:17053055|PMID:17576681|PMID:18028488|PMID:18611981|PMID:19036076|PMID:20049848|PMID:20301705|PMID:20582973|PMID:21425445|PMID:22148006|PMID:22758217|PMID:23463630|PMID:24523240|PMID:24616599|PMID:25427142|PMID:25741868|PMID:26567890|PMID:28073911|PMID:28492532|PMID:30040071|PMID:30273710|PMID:30386760|PMID:30635825|PMID:31248972|PMID:31321910|PMID:3229910|PMID:32581362|PMID:33318085|PMID:9536098 12112959 ELANE elastase, neutrophil expressed gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1317469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:24033266 12112959 ELANE elastase, neutrophil expressed gene DOID:10247 pleurisy ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:20860667|REF_RGD_ID:10450565 12112959 ELANE elastase, neutrophil expressed gene DOID:11247 disseminated intravascular coagulation ISO RGD:1317469 D RGD:9068941 20200609 RGD associated with Multiple Organ Failure, Craniocerebral Trauma;protein:increased expression:plasma: PMID:10912863|REF_RGD_ID:10450545 12112959 ELANE elastase, neutrophil expressed gene DOID:11247 disseminated intravascular coagulation ISO RGD:1317469 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:20655560|REF_RGD_ID:10450544 12112959 ELANE elastase, neutrophil expressed gene DOID:1227 neutropenia ISO RGD:1317469 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:10581030|PMID:17576681|PMID:20049848|PMID:23463630|PMID:25741868|PMID:28492532|PMID:30040071|PMID:32581362|PMID:9536098 12112959 ELANE elastase, neutrophil expressed gene DOID:14115 toxic shock syndrome treatment ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:18323746|REF_RGD_ID:10450579 12112959 ELANE elastase, neutrophil expressed gene DOID:2224 essential thrombocythemia ISO RGD:1317469 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:18768782|REF_RGD_ID:10450556 12112959 ELANE elastase, neutrophil expressed gene DOID:224 transient cerebral ischemia treatment ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:19168036|REF_RGD_ID:10450558 12112959 ELANE elastase, neutrophil expressed gene DOID:2562 suppurative periapical periodontitis ISO RGD:1307968 D RGD:9068941 20200609 RGD protein:increased expression:neutrophil: PMID:19913217|REF_RGD_ID:10450566 12112959 ELANE elastase, neutrophil expressed gene DOID:2921 glomerulonephritis ISO RGD:1624045 D RGD:9068941 20200609 RGD PMID:19752320|REF_RGD_ID:6907051 12112959 ELANE elastase, neutrophil expressed gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1317469 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10581030|PMID:11675333|PMID:19036076|PMID:23463630|PMID:25703294|PMID:25741868|PMID:27854218|PMID:28492532 12112959 ELANE elastase, neutrophil expressed gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1317469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10581030|PMID:11675333|PMID:19036076|PMID:23463630|PMID:25427142|PMID:25703294|PMID:25741868|PMID:28492532 12112959 ELANE elastase, neutrophil expressed gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1317469 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10581030|PMID:11675333|PMID:19036076|PMID:23463630|PMID:25427142|PMID:25703294|PMID:25741868|PMID:27854218|PMID:28492532 12112959 ELANE elastase, neutrophil expressed gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:10700596|REF_RGD_ID:10450546 12112959 ELANE elastase, neutrophil expressed gene DOID:3770 pulmonary fibrosis ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:19995276|REF_RGD_ID:10450562 12112959 ELANE elastase, neutrophil expressed gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1317469 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 12112959 ELANE elastase, neutrophil expressed gene DOID:5339 cyclic hematopoiesis ISO RGD:1317469 D RGD:7240710 20180130 OMIM 12112959 ELANE elastase, neutrophil expressed gene DOID:5339 cyclic hematopoiesis ISO RGD:1317469 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:10581030|PMID:11001877|PMID:11675333|PMID:14962902|PMID:15657182|PMID:16079102|PMID:16199547|PMID:16551967|PMID:16737875|PMID:16986121|PMID:17436313|PMID:17576681|PMID:18028488|PMID:18611981|PMID:18703682|PMID:19036076|PMID:19415009|PMID:19775295|PMID:20049848|PMID:20582973|PMID:20803142|PMID:21425445|PMID:21618407|PMID:22148006|PMID:22510773|PMID:22624626|PMID:22758217|PMID:23382209|PMID:23463630|PMID:24184683|PMID:24523240|PMID:24616599|PMID:25162927|PMID:25427142|PMID:25703294|PMID:25705433|PMID:25741868|PMID:25912133|PMID:26567890|PMID:28073911|PMID:28492532|PMID:29076228|PMID:29517659|PMID:30040071|PMID:30171085|PMID:30273710|PMID:30386760|PMID:30635825|PMID:31009763|PMID:31176364|PMID:31248972|PMID:31321910|PMID:31574885|PMID:31965297|PMID:3229910|PMID:32581362|PMID:33179225|PMID:33225392|PMID:34340247|PMID:9536098 12112959 ELANE elastase, neutrophil expressed gene DOID:630 genetic disease ISO RGD:1317469 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12112959 ELANE elastase, neutrophil expressed gene DOID:7427 anthrax disease ISO RGD:1624045 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:19049643|REF_RGD_ID:10450550 12112959 ELANE elastase, neutrophil expressed gene DOID:824 periodontitis susceptibility ISO RGD:1317469 D RGD:9068941 20200609 RGD associated with Severe Congenital Neutropenia;DNA:mutations: : PMID:21796505|REF_RGD_ID:10450515 12112959 ELANE elastase, neutrophil expressed gene DOID:8997 polycythemia vera ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:12186827|REF_RGD_ID:10450557 12112959 ELANE elastase, neutrophil expressed gene DOID:8997 polycythemia vera ISO RGD:1317469 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:18768782|REF_RGD_ID:10450556 12112959 ELANE elastase, neutrophil expressed gene DOID:9000197 Edema treatment ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:20860667|REF_RGD_ID:10450565 12112959 ELANE elastase, neutrophil expressed gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:1624045 D RGD:9068941 20200609 RGD PMID:18276796|REF_RGD_ID:10450549 12112959 ELANE elastase, neutrophil expressed gene DOID:9001553 Spinal Cord Compression treatment ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:9675307|REF_RGD_ID:10450552 12112959 ELANE elastase, neutrophil expressed gene DOID:9002159 Liver Reperfusion Injury ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:10588515|REF_RGD_ID:10450560 12112959 ELANE elastase, neutrophil expressed gene DOID:9003202 Pulmonary Hemorrhage ISO RGD:1307968 D RGD:9068941 20200609 RGD associated with Pancreatitis, Experimental, sepsis; PMID:7587785|REF_RGD_ID:10450559 12112959 ELANE elastase, neutrophil expressed gene DOID:9004237 Hyperoxic Lung Injury treatment ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:11104832|REF_RGD_ID:10450581 12112959 ELANE elastase, neutrophil expressed gene DOID:9004347 Skeletal Muscle Reperfusion Injury ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:7858993|REF_RGD_ID:10450555 12112959 ELANE elastase, neutrophil expressed gene DOID:9004484 Sepsis ISO RGD:1624045 D RGD:9068941 20200609 RGD associated with Klebsiella Infections; PMID:9585238|REF_RGD_ID:10450543 12112959 ELANE elastase, neutrophil expressed gene DOID:9004610 Acute Lung Injury ISO RGD:1307968 D RGD:9068941 20200609 RGD protein:increased expression:perfusate: PMID:18283562|REF_RGD_ID:10450585 12112959 ELANE elastase, neutrophil expressed gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:15257085|REF_RGD_ID:10450548 12112959 ELANE elastase, neutrophil expressed gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1307968 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic; PMID:17203197|REF_RGD_ID:10450587 12112959 ELANE elastase, neutrophil expressed gene DOID:9005932 Urinary Bladder Reperfusion Injury treatment ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:18165924|REF_RGD_ID:10450583 12112959 ELANE elastase, neutrophil expressed gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:16980042|REF_RGD_ID:10450580 12112959 ELANE elastase, neutrophil expressed gene DOID:9006263 Experimental Pancreatitis treatment ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:18486906|REF_RGD_ID:10450567 12112959 ELANE elastase, neutrophil expressed gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:17888675|REF_RGD_ID:10450582 12112959 ELANE elastase, neutrophil expressed gene DOID:9675 pulmonary emphysema ISO RGD:1307968 D RGD:9068941 20200609 RGD PMID:12186827|REF_RGD_ID:10450557 12112968 TGM3 transglutaminase 3 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1343492 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12112968 TGM3 transglutaminase 3 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1343492 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12112968 TGM3 transglutaminase 3 gene DOID:630 genetic disease ISO RGD:1343492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12112968 TGM3 transglutaminase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1343492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12112968 TGM3 transglutaminase 3 gene DOID:9001368 Uncombable Hair Syndrome 2 ISO RGD:1343492 D RGD:7240710 20190315 OMIM 12112968 TGM3 transglutaminase 3 gene DOID:9001368 Uncombable Hair Syndrome 2 ISO RGD:1343492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uncombable hair syndrome 2 PMID:24183230|PMID:27866708 12112968 TGM3 transglutaminase 3 gene DOID:9005997 Uncombable Hair Syndrome ISO RGD:1343492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12112985 HID1 HID1 domain containing gene DOID:630 genetic disease ISO RGD:1322878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28600779 12112985 HID1 HID1 domain containing gene DOID:9002700 Developmental and Epileptic Encephalopathy 105 ISO RGD:1322878 D RGD:7240710 20220810 OMIM 12112985 HID1 HID1 domain containing gene DOID:9002700 Developmental and Epileptic Encephalopathy 105 ISO RGD:1322878 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 105 with hypopituitarism PMID:28600779|PMID:33999436 12113007 SLC8B1 solute carrier family 8 member B1 gene DOID:630 genetic disease ISO RGD:1349643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113007 SLC8B1 solute carrier family 8 member B1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1565818 D RGD:9068941 20200609 RGD PMID:23564126|REF_RGD_ID:9685494 12113038 STX4 syntaxin 4 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:731468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12113038 STX4 syntaxin 4 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:731468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:25362483|PMID:26818399|PMID:28492532 12113038 STX4 syntaxin 4 gene DOID:10003 sensorineural hearing loss ISO RGD:731468 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:30311386 12113038 STX4 syntaxin 4 gene DOID:630 genetic disease ISO RGD:731468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113038 STX4 syntaxin 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12113053 PRDM15 PR/SET domain 15 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1320736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12113053 PRDM15 PR/SET domain 15 gene DOID:0110266 cataract 9 multiple types ISO RGD:1320736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12113053 PRDM15 PR/SET domain 15 gene DOID:630 genetic disease ISO RGD:1320736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113053 PRDM15 PR/SET domain 15 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320736 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12113053 PRDM15 PR/SET domain 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12113053 PRDM15 PR/SET domain 15 gene DOID:9263 homocystinuria ISO RGD:1320736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12113053 PRDM15 PR/SET domain 15 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12113099 MARS1 methionyl-tRNA synthetase 1 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1313280 D RGD:7240710 20180130 OMIM 12113099 MARS1 methionyl-tRNA synthetase 1 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1313280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2U PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23729695|PMID:24103465|PMID:24354524|PMID:24482476|PMID:25640679|PMID:25741868|PMID:25913036|PMID:28148924|PMID:28492532|PMID:28708278|PMID:29582526|PMID:29655802|PMID:30723866|PMID:31356216|PMID:32376792|PMID:33909043|PMID:34169998|PMID:34298581|PMID:9536098 12113099 MARS1 methionyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1313280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:23729695|PMID:24103465|PMID:25741868|PMID:25913036|PMID:28492532|PMID:29655802|PMID:31356216|PMID:32376792 12113099 MARS1 methionyl-tRNA synthetase 1 gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1313280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary alveolar proteinosis PMID:25913036 12113099 MARS1 methionyl-tRNA synthetase 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1313280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:28492532 12113099 MARS1 methionyl-tRNA synthetase 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1313280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28832565 12113099 MARS1 methionyl-tRNA synthetase 1 gene DOID:607 paraplegia ISO RGD:1313280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12113099 MARS1 methionyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1313280 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:24103465|PMID:24482476|PMID:25741868|PMID:25913036|PMID:28492532|PMID:28708278|PMID:32376792|PMID:9536098 12113099 MARS1 methionyl-tRNA synthetase 1 gene DOID:6846 familial melanoma ISO RGD:1313280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 12113099 MARS1 methionyl-tRNA synthetase 1 gene DOID:9000026 Spastic Paraplegia 70, Autosomal Recessive ISO RGD:1313280 D RGD:7240710 20230505 OMIM 12113099 MARS1 methionyl-tRNA synthetase 1 gene DOID:9000026 Spastic Paraplegia 70, Autosomal Recessive ISO RGD:1313280 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 70, autosomal recessive PMID:24482476|PMID:28492532|PMID:28708278 12113099 MARS1 methionyl-tRNA synthetase 1 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1313280 D RGD:7240710 20181114 OMIM 12113099 MARS1 methionyl-tRNA synthetase 1 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1313280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease | ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23729695|PMID:24103465|PMID:24482476|PMID:25640679|PMID:25741868|PMID:25913036|PMID:28148924|PMID:28492532|PMID:28708278|PMID:29582526|PMID:29655802|PMID:30723866|PMID:32376792|PMID:33909043|PMID:34169998|PMID:34298581|PMID:9536098 12113099 MARS1 methionyl-tRNA synthetase 1 gene DOID:9004318 Nonphotosensitive Trichothiodystrophy 9 ISO RGD:1313280 D RGD:7240710 20220112 OMIM 12113099 MARS1 methionyl-tRNA synthetase 1 gene DOID:9004318 Nonphotosensitive Trichothiodystrophy 9 ISO RGD:1313280 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 9, nonphotosensitive PMID:28492532|PMID:33909043 12113124 SUGP1 SURP and G-patch domain containing 1 gene DOID:630 genetic disease ISO RGD:1321429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113142 A1CF APOBEC1 complementation factor gene DOID:13189 gout ISO RGD:733348 D RGD:9068941 20200609 RGD PMID:28252667|REF_RGD_ID:13831120 12113142 A1CF APOBEC1 complementation factor gene DOID:13189 gout ISO RGD:733348 D RGD:9068941 20200609 RGD DNA:SNP: :rs10821905 (human) PMID:28679452|REF_RGD_ID:13831119 12113142 A1CF APOBEC1 complementation factor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12113142 A1CF APOBEC1 complementation factor gene DOID:630 genetic disease ISO RGD:733348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113160 DERA deoxyribose-phosphate aldolase gene DOID:0080600 COVID-19 ISO RGD:1352250 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12113160 DERA deoxyribose-phosphate aldolase gene DOID:630 genetic disease ISO RGD:1352250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113173 NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1604552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:16200211|PMID:18180188|PMID:19384974|PMID:20571988|PMID:21924235|PMID:22099533|PMID:25326635|PMID:25741868|PMID:26795593|PMID:27597947|PMID:28492532|PMID:31130284 12113173 NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:0080907 Cockayne syndrome A ISO RGD:1604552 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cockayne syndrome type 1 | ClinVar Annotator: match by term: Cockayne syndrome type 1 PMID:14661080|PMID:15744458|PMID:19329487|PMID:19384974|PMID:19894250|PMID:20571988|PMID:21681106|PMID:21924235|PMID:22099533|PMID:24033266|PMID:25333069|PMID:25741868|PMID:27597947|PMID:28492532|PMID:29572252 12113173 NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1604552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:16200211|PMID:18180188|PMID:19384974|PMID:20571988|PMID:21924235|PMID:22099533|PMID:25326635|PMID:25741868|PMID:26795593|PMID:27597947|PMID:28492532|PMID:31130284 12113173 NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:0112075 nuclear type mitochondrial complex I deficiency 10 ISO RGD:1604552 D RGD:7240710 20190315 OMIM 12113173 NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:0112075 nuclear type mitochondrial complex I deficiency 10 ISO RGD:1604552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 PMID:16200211|PMID:18180188|PMID:19384974|PMID:20571988|PMID:20818383|PMID:21924235|PMID:22099533|PMID:25326635|PMID:25741868|PMID:26795593|PMID:27597947|PMID:28492532|PMID:31130284 12113173 NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:2962 Cockayne syndrome ISO RGD:1604552 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism PMID:14661080|PMID:15744458|PMID:19329487|PMID:19894250|PMID:24033266|PMID:25333069|PMID:25741868|PMID:28492532|PMID:29572252 12113173 NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:3652 Leigh disease ISO RGD:1604552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:16200211|PMID:18180188|PMID:20818383|PMID:22644603|PMID:25326635|PMID:25741868|PMID:26795593|PMID:28492532|PMID:31130284 12113173 NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:630 genetic disease ISO RGD:1604552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16200211|PMID:18180188|PMID:25326635|PMID:25741868|PMID:26795593|PMID:28492532|PMID:31130284 12113173 NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1604552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:16200211|PMID:18180188|PMID:20818383|PMID:25326635|PMID:25741868|PMID:26795593|PMID:28492532|PMID:31130284 12113173 NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12113173 NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:1604552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16200211 12113188 ACTL6A actin like 6A gene DOID:0050572 cone-rod dystrophy ISO RGD:1603412 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cone-rod degeneration PMID:25741868|PMID:28649782|PMID:30004997 12113188 ACTL6A actin like 6A gene DOID:0050840 cervical dystonia ISO RGD:1603412 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Torticollis PMID:25741868|PMID:28649782|PMID:30004997 12113188 ACTL6A actin like 6A gene DOID:0060320 inguinal hernia ISO RGD:1603412 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inguinal hernia PMID:25741868|PMID:28649782|PMID:30004997 12113188 ACTL6A actin like 6A gene DOID:0060321 umbilical hernia ISO RGD:1603412 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Umbilical hernia PMID:25741868|PMID:28649782|PMID:30004997 12113188 ACTL6A actin like 6A gene DOID:0111546 Currarino syndrome ISO RGD:1603412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12113188 ACTL6A actin like 6A gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1603412 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 12113188 ACTL6A actin like 6A gene DOID:1882 atrial heart septal defect ISO RGD:1603412 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868|PMID:28649782|PMID:30004997 12113188 ACTL6A actin like 6A gene DOID:630 genetic disease ISO RGD:1603412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113188 ACTL6A actin like 6A gene DOID:8534 gastroesophageal reflux disease ISO RGD:1603412 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux PMID:25741868|PMID:28649782|PMID:30004997 12113188 ACTL6A actin like 6A gene DOID:9000727 Syncope ISO RGD:1603412 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Syncope PMID:25741868|PMID:28649782|PMID:30004997 12113188 ACTL6A actin like 6A gene DOID:9007921 Spina Bifida Cystica ISO RGD:1307747 D RGD:9068941 20200609 RGD PMID:23677776|REF_RGD_ID:9587760 12113188 ACTL6A actin like 6A gene DOID:9008086 Developmental Disabilities ISO RGD:1603412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28649782 12113217 RASA1 RAS p21 protein activator 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732468 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12113217 RASA1 RAS p21 protein activator 1 gene DOID:0111563 Sturge-Weber syndrome ISO RGD:732468 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Parkes Weber syndrome PMID:25741868|PMID:28492532 12113217 RASA1 RAS p21 protein activator 1 gene DOID:0111563 Sturge-Weber syndrome ISO RGD:732468 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Parkes Weber syndrome PMID:22200646|PMID:23801933|PMID:24038909|PMID:25741868|PMID:27081547|PMID:28492532|PMID:28655553|PMID:29891884 12113217 RASA1 RAS p21 protein activator 1 gene DOID:11294 arteriovenous malformation ISO RGD:732468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14639529 12113217 RASA1 RAS p21 protein activator 1 gene DOID:11294 arteriovenous malformation ISO RGD:732468 D RGD:9068941 20200609 RGD PMID:15917201|REF_RGD_ID:1581296 12113217 RASA1 RAS p21 protein activator 1 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:732468 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:18446851|PMID:24038909|PMID:25741868|PMID:28295764|PMID:28492532|PMID:29891884 12113217 RASA1 RAS p21 protein activator 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 12113217 RASA1 RAS p21 protein activator 1 gene DOID:2513 basal cell carcinoma ISO RGD:732468 D RGD:7240710 20230505 OMIM 12113217 RASA1 RAS p21 protein activator 1 gene DOID:2513 basal cell carcinoma ISO RGD:732468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 PMID:18446851|PMID:22200646|PMID:23801933|PMID:24038909|PMID:25741868|PMID:28492532|PMID:29891884|PMID:8275088 12113217 RASA1 RAS p21 protein activator 1 gene DOID:2926 Klippel-Trenaunay syndrome ISO RGD:732468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angio-osteohypertrophy syndrome 12113217 RASA1 RAS p21 protein activator 1 gene DOID:305 carcinoma ISO RGD:732468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 12113217 RASA1 RAS p21 protein activator 1 gene DOID:3910 lung adenocarcinoma ISO RGD:732468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 12113217 RASA1 RAS p21 protein activator 1 gene DOID:630 genetic disease ISO RGD:732468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12113217 RASA1 RAS p21 protein activator 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:732468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 12113217 RASA1 RAS p21 protein activator 1 gene DOID:9001616 Port-Wine Stain ISO RGD:732468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14639529 12113217 RASA1 RAS p21 protein activator 1 gene DOID:9001616 Port-Wine Stain ISO RGD:732468 D RGD:9068941 20200609 RGD DNA:mutations:exons:multiple (human) PMID:14639529|REF_RGD_ID:734495 12113217 RASA1 RAS p21 protein activator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12113217 RASA1 RAS p21 protein activator 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:732469 D RGD:9068941 20200609 RGD in males;protein:decreased expression:heart left ventricle (mouse) PMID:24157234|REF_RGD_ID:9999450 12113217 RASA1 RAS p21 protein activator 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 12113217 RASA1 RAS p21 protein activator 1 gene DOID:9005469 Capillary Malformation-Arteriovenous Malformation ISO RGD:732468 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome PMID:14639529|PMID:16199547|PMID:17576681|PMID:18446851|PMID:21626678|PMID:22200646|PMID:23164092|PMID:23650393|PMID:23687085|PMID:23801933|PMID:24038909|PMID:24139535|PMID:25640679|PMID:25741868|PMID:26499346|PMID:26774077|PMID:27081547|PMID:27535533|PMID:28295764|PMID:28492532|PMID:28655553|PMID:29024832|PMID:29110021|PMID:29120072|PMID:29171923|PMID:29891884|PMID:30120215|PMID:9536098 12113217 RASA1 RAS p21 protein activator 1 gene DOID:9005469 Capillary Malformation-Arteriovenous Malformation susceptibility ISO RGD:732468 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:14639529|REF_RGD_ID:734495 12113217 RASA1 RAS p21 protein activator 1 gene DOID:9006290 Central Nervous System Venous Angioma ISO RGD:732468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral venous angioma PMID:23650393|PMID:25741868|PMID:31680349 12113217 RASA1 RAS p21 protein activator 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732468 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12113217 RASA1 RAS p21 protein activator 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12113217 RASA1 RAS p21 protein activator 1 gene DOID:9007729 Multiple Basal Cell Carcinoma ISO RGD:732468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, multiple PMID:22200646|PMID:23801933|PMID:24038909|PMID:25741868|PMID:28492532 12113217 RASA1 RAS p21 protein activator 1 gene DOID:9008640 Capillary Malformation-Arteriovenous Malformation 1 ISO RGD:732468 D RGD:7240710 20190327 OMIM 12113217 RASA1 RAS p21 protein activator 1 gene DOID:9008640 Capillary Malformation-Arteriovenous Malformation 1 ISO RGD:732468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 PMID:14639529|PMID:16199547|PMID:18363760|PMID:18446851|PMID:22200646|PMID:23164092|PMID:23801933|PMID:24038909|PMID:25040287|PMID:25741868|PMID:26499346|PMID:27081547|PMID:27535533|PMID:28492532|PMID:28655553|PMID:29891884 12113217 RASA1 RAS p21 protein activator 1 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:732468 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY PMID:25741868 12113246 RPS25 ribosomal protein S25 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1353637 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12113246 RPS25 ribosomal protein S25 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1353637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12113246 RPS25 ribosomal protein S25 gene DOID:0080690 RASopathy ISO RGD:1353637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12113246 RPS25 ribosomal protein S25 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1353637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12113246 RPS25 ribosomal protein S25 gene DOID:0110651 long QT syndrome 10 ISO RGD:1353637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12113246 RPS25 ribosomal protein S25 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1353637 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12113246 RPS25 ribosomal protein S25 gene DOID:0111971 immunodeficiency 18 ISO RGD:1353637 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12113246 RPS25 ribosomal protein S25 gene DOID:0111972 immunodeficiency 19 ISO RGD:1353637 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12113246 RPS25 ribosomal protein S25 gene DOID:0111973 immunodeficiency 17 ISO RGD:1353637 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12113246 RPS25 ribosomal protein S25 gene DOID:5419 schizophrenia ISO RGD:1353637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12113246 RPS25 ribosomal protein S25 gene DOID:630 genetic disease ISO RGD:1353637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113246 RPS25 ribosomal protein S25 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1353637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12113246 RPS25 ribosomal protein S25 gene DOID:9007661 Dwarfism ISO RGD:1353637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12113256 SUCO SUN domain containing ossification factor gene DOID:0110344 osteogenesis imperfecta type 5 ISO RGD:1621340 D RGD:9068941 20220825 MouseDO OMIM:610967 12113256 SUCO SUN domain containing ossification factor gene DOID:1540 parathyroid carcinoma ISO RGD:1347236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12113256 SUCO SUN domain containing ossification factor gene DOID:630 genetic disease ISO RGD:1347236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12113256 SUCO SUN domain containing ossification factor gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1347236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 12113256 SUCO SUN domain containing ossification factor gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1347236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12113256 SUCO SUN domain containing ossification factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12113284 CCDC88A coiled-coil domain containing 88A gene DOID:0080539 PEHO syndrome ISO RGD:1347801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PEHO syndrome | ClinVar Annotator: match by term: PEHO-like syndrome PMID:25741868|PMID:26917597|PMID:28492532 12113284 CCDC88A coiled-coil domain containing 88A gene DOID:10907 microcephaly ISO RGD:1347801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12113284 CCDC88A coiled-coil domain containing 88A gene DOID:630 genetic disease ISO RGD:1347801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12113326 ASB4 ankyrin repeat and SOCS box containing 4 gene DOID:10591 pre-eclampsia ISO RGD:1557659 D RGD:9068941 20220825 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 12113326 ASB4 ankyrin repeat and SOCS box containing 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12113326 ASB4 ankyrin repeat and SOCS box containing 4 gene DOID:630 genetic disease ISO RGD:1348810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113335 CTSW cathepsin W gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1319657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 12113335 CTSW cathepsin W gene DOID:1059 intellectual disability ISO RGD:1319657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12113335 CTSW cathepsin W gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12113335 CTSW cathepsin W gene DOID:2746 glycogen storage disease V ISO RGD:1319657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12113335 CTSW cathepsin W gene DOID:630 genetic disease ISO RGD:1319657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113335 CTSW cathepsin W gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1319657 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12113335 CTSW cathepsin W gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12113354 MEIS3 Meis homeobox 3 gene DOID:630 genetic disease ISO RGD:1318359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113383 UQCR10 ubiquinol-cytochrome c reductase, complex III subunit X gene DOID:0111252 neurofibromatosis 2 ISO RGD:1604015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 12113383 UQCR10 ubiquinol-cytochrome c reductase, complex III subunit X gene DOID:630 genetic disease ISO RGD:1604015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113383 UQCR10 ubiquinol-cytochrome c reductase, complex III subunit X gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:21876083|PMID:24713400|PMID:28492532 12113389 CCDC91 coiled-coil domain containing 91 gene DOID:12849 autistic disorder ISO RGD:1605359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12113389 CCDC91 coiled-coil domain containing 91 gene DOID:303 substance-related disorder ISO RGD:1605359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12113389 CCDC91 coiled-coil domain containing 91 gene DOID:630 genetic disease ISO RGD:1605359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113415 ZC2HC1A zinc finger C2HC-type containing 1A gene DOID:630 genetic disease ISO RGD:1602891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113428 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:10652 Alzheimer's disease ISO RGD:69020 D RGD:9068941 20200609 RGD PMID:20508993|REF_RGD_ID:5683632 12113428 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:13628 favism ISO RGD:69020 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:25741868 12113428 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:14330 Parkinson's disease ISO RGD:2845 D RGD:9068941 20200609 RGD PMID:20508280|REF_RGD_ID:5683633 12113428 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:1596 depressive disorder ISO RGD:69020 D RGD:9068941 20200609 RGD PMID:10578452|PMID:21512427|REF_RGD_ID:5683629|REF_RGD_ID:5683634 12113428 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:2030 anxiety disorder ISO RGD:10745 D RGD:9068941 20220825 MouseDO OMIM:607834 12113428 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:2030 anxiety disorder ISO RGD:69020 D RGD:9068941 20200609 RGD PMID:21512427|REF_RGD_ID:5683629 12113428 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:594 panic disorder ISO RGD:2845 D RGD:9068941 20200609 RGD PMID:21421022|REF_RGD_ID:5683630 12113428 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:594 panic disorder ISO RGD:69020 D RGD:9068941 20200609 RGD PMID:20817074|REF_RGD_ID:5683631 12113428 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:630 genetic disease ISO RGD:69020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113428 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:8646 substance-induced psychosis ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19747927 12113428 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:8927 learning disability ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12591222 12113428 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:9000217 Stomach Neoplasms ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21447133 12113428 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:9000495 Tremor ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11070179 12113428 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:9000641 Pain ISO RGD:10745 D RGD:9068941 20200609 RGD PMID:21945716|REF_RGD_ID:5683627 12113428 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:9000641 Pain ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12595749 12113428 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:9000972 Fever ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21990073 12113428 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:9003805 Catalepsy ISO RGD:2845 D RGD:9068941 20200609 RGD PMID:20508280|REF_RGD_ID:5683633 12113428 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12113428 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:9004992 Apnea ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10640309 12113428 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:9005632 Cocaine-Related Disorders ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11853856 12113428 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:9007001 Bradycardia ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2207497 12113428 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:9008023 Memory Disorders ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12591222 12113428 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:2845 D RGD:9068941 20200609 RGD PMID:21352823|REF_RGD_ID:5683628 12113428 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:9008802 Periodic Fever, Menstrual Cycle-Dependent ISO RGD:69020 D RGD:7240710 20180130 OMIM 12113428 HTR1A 5-hydroxytryptamine receptor 1A gene DOID:9008802 Periodic Fever, Menstrual Cycle-Dependent ISO RGD:69020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Menstrual cycle-dependent periodic fever PMID:21990073 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:70833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:1059 intellectual disability ISO RGD:70833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:10763 hypertension ISO RGD:2395 D RGD:9068941 20200609 RGD protein:decreased expression:liver, mitochondrion PMID:19135993|REF_RGD_ID:2303405 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:70833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11407344 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:70833 D RGD:9068941 20200609 RGD CACD, OMIM:265380, DNA:polymorphism:T1405N PMID:11407344|REF_RGD_ID:1600716 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:70833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:70833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:178 vascular disease ISO RGD:70833 D RGD:9068941 20200609 RGD venoocclusive disease, DNA:polymorphism:T1405N PMID:14718356|REF_RGD_ID:1600717 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:630 genetic disease ISO RGD:70833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17310273|PMID:17576681|PMID:20855223|PMID:21120950|PMID:22575620|PMID:24813853|PMID:25741868|PMID:28492532|PMID:32718099|PMID:33489762|PMID:9536098 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:70833 D RGD:9068941 20220616 RGD associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9000722 Animal Hepatitis ISO RGD:2395 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8821709|REF_RGD_ID:2303519 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2395 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:17539997|REF_RGD_ID:2303515 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15650968 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9001586 Experimental Liver Neoplasms severity ISO RGD:2395 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:3387993|REF_RGD_ID:2303406 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2395 D RGD:9068941 20200609 RGD PMID:3973436|REF_RGD_ID:2303532 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9002802 Acidoses ISO RGD:2395 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:9472964|REF_RGD_ID:4144071 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO treatment ISO RGD:10389 D RGD:9068941 20200609 RGD PMID:29801986|REF_RGD_ID:13628400 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9003515 Neonatal Pulmonary Hypertension ISO RGD:70833 D RGD:7240710 20230505 OMIM 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9003515 Neonatal Pulmonary Hypertension ISO RGD:70833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, neonatal, susceptibility to PMID:11407344|PMID:14718356|PMID:15465784|PMID:16708072|PMID:20154341|PMID:21767969 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:70833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2395 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:2882780|REF_RGD_ID:4144110 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9005930 Endotoxemia ISO RGD:70833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16741687 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9006462 Coma ISO RGD:70833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8438805 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:70833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9007874 Liver Failure ISO RGD:2395 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:8836904|REF_RGD_ID:4140432 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9007874 Liver Failure ISO RGD:2395 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:11779202|REF_RGD_ID:70249 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9008972 Hyperammonemia ISO RGD:70833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17310273|PMID:8486760 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9280 carbamoyl phosphate synthetase I deficiency disease ISO RGD:70833 D RGD:7240710 20180130 OMIM 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9280 carbamoyl phosphate synthetase I deficiency disease ISO RGD:70833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hyperammonemia, type I PMID:11388595|PMID:11474210|PMID:11536261|PMID:12655559|PMID:12955727|PMID:15050969|PMID:15164414|PMID:15617192|PMID:15876373|PMID:16199547|PMID:16737834|PMID:17310273|PMID:17357079|PMID:17576681|PMID:18414213|PMID:18666241|PMID:19167850|PMID:19309799|PMID:19793055|PMID:20578160|PMID:20800523|PMID:20855223|PMID:21068339|PMID:21108709|PMID:21120950|PMID:22173106|PMID:22494545|PMID:22575620|PMID:23649895|PMID:24813853|PMID:24880889|PMID:25640679|PMID:25741868|PMID:26059772|PMID:26440671|PMID:27150549|PMID:27290639|PMID:27436290|PMID:28007335|PMID:28444906|PMID:28492532|PMID:28526534|PMID:28658158|PMID:29888426|PMID:30285816|PMID:31392117|PMID:31435610|PMID:31507628|PMID:31749211|PMID:32154057|PMID:32280145|PMID:32670798|PMID:32718099|PMID:32934962|PMID:33190319|PMID:33309754|PMID:33489762|PMID:33551825|PMID:33611823|PMID:33851512|PMID:33924653|PMID:34298581|PMID:8486760|PMID:9536098|PMID:9686343|PMID:9711878 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:936 brain disease ISO RGD:70833 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9452 fatty liver disease ISO RGD:2395 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:20347174|REF_RGD_ID:4144089 12113445 CPS1 carbamoyl-phosphate synthase 1 gene DOID:9970 obesity ISO RGD:2395 D RGD:9068941 20200609 RGD PMID:15481768|REF_RGD_ID:2303517 12113487 SLC36A1 solute carrier family 36 member 1 gene DOID:0080287 spinocerebellar ataxia 45 ISO RGD:736301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 45 PMID:20301317|PMID:25741868|PMID:28492532|PMID:29053796|PMID:29847346 12113487 SLC36A1 solute carrier family 36 member 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736301 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12113487 SLC36A1 solute carrier family 36 member 1 gene DOID:0112265 iminoglycinuria ISO RGD:736301 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Iminoglycinuria PMID:19033659 12113487 SLC36A1 solute carrier family 36 member 1 gene DOID:630 genetic disease ISO RGD:736301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12113487 SLC36A1 solute carrier family 36 member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736301 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12113487 SLC36A1 solute carrier family 36 member 1 gene DOID:9008487 Glycinuria with or without Oxalate Urolithiasis ISO RGD:736301 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hyperglycinuria PMID:19033659 12113526 IK IK cytokine gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1347168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12113526 IK IK cytokine gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12113526 IK IK cytokine gene DOID:630 genetic disease ISO RGD:1347168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113526 IK IK cytokine gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12113526 IK IK cytokine gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12113550 SSC4D scavenger receptor cysteine rich family member with 4 domains gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12113550 SSC4D scavenger receptor cysteine rich family member with 4 domains gene DOID:630 genetic disease ISO RGD:1315886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113550 SSC4D scavenger receptor cysteine rich family member with 4 domains gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1315886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12113563 FAF1 Fas associated factor 1 gene DOID:3948 adrenocortical carcinoma ISO RGD:733981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 12113563 FAF1 Fas associated factor 1 gene DOID:630 genetic disease ISO RGD:733981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113590 FAM131B family with sequence similarity 131 member B gene DOID:0080600 COVID-19 ISO RGD:1605421 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12113590 FAM131B family with sequence similarity 131 member B gene DOID:630 genetic disease ISO RGD:1605421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113590 FAM131B family with sequence similarity 131 member B gene DOID:9001336 Myotonia Congenita, Autosomal Dominant ISO RGD:1605421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form PMID:16321142|PMID:18337100|PMID:23113340|PMID:23739125|PMID:25741868|PMID:26467025|PMID:28492532 12113590 FAM131B family with sequence similarity 131 member B gene DOID:9008993 Myotonia ISO RGD:1605421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myotonia PMID:16321142|PMID:18337100|PMID:23113340|PMID:23739125|PMID:25741868|PMID:26467025|PMID:28492532 12113590 FAM131B family with sequence similarity 131 member B gene DOID:9009057 Myotonia Congenita, Autosomal Recessive ISO RGD:1605421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form PMID:16321142|PMID:18337100|PMID:23113340|PMID:23739125|PMID:25741868|PMID:26467025|PMID:28492532 12113600 GTSE1 G2 and S-phase expressed 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1350308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12113600 GTSE1 G2 and S-phase expressed 1 gene DOID:0080600 COVID-19 ISO RGD:1350308 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12113600 GTSE1 G2 and S-phase expressed 1 gene DOID:1059 intellectual disability ISO RGD:1350308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12113600 GTSE1 G2 and S-phase expressed 1 gene DOID:630 genetic disease ISO RGD:1350308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113600 GTSE1 G2 and S-phase expressed 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1350308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12113617 STK35 serine/threonine kinase 35 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1321037 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12113617 STK35 serine/threonine kinase 35 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1321037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12113617 STK35 serine/threonine kinase 35 gene DOID:630 genetic disease ISO RGD:1321037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113625 SGO1 shugoshin 1 gene DOID:0060339 chronic atrial and intestinal dysrhythmia ISO RGD:1344948 D RGD:7240710 20180130 OMIM 12113625 SGO1 shugoshin 1 gene DOID:0060339 chronic atrial and intestinal dysrhythmia ISO RGD:1344948 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chronic atrial and intestinal dysrhythmia PMID:25282101|PMID:25741868 12113625 SGO1 shugoshin 1 gene DOID:5295 intestinal disease ISO RGD:1344948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25282101 12113625 SGO1 shugoshin 1 gene DOID:630 genetic disease ISO RGD:1344948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113625 SGO1 shugoshin 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1344948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25282101 12113625 SGO1 shugoshin 1 gene DOID:9004980 Chronobiology Disorders ISO RGD:1344948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25282101 12113641 ARHGAP45 Rho GTPase activating protein 45 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1606818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 12113641 ARHGAP45 Rho GTPase activating protein 45 gene DOID:10591 pre-eclampsia ISO RGD:1606818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26095815 12113641 ARHGAP45 Rho GTPase activating protein 45 gene DOID:14566 disease of cellular proliferation ISO RGD:1606818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19096014 12113641 ARHGAP45 Rho GTPase activating protein 45 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1606818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 12113641 ARHGAP45 Rho GTPase activating protein 45 gene DOID:5339 cyclic hematopoiesis ISO RGD:1606818 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12113641 ARHGAP45 Rho GTPase activating protein 45 gene DOID:630 genetic disease ISO RGD:1606818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113670 LOC612779 histone H3.3A-like gene DOID:630 genetic disease ISO RGD:1605172 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113675 GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1321743 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 12113675 GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:0080600 COVID-19 ISO RGD:1321743 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12113675 GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1321743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12113675 GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:630 genetic disease ISO RGD:1321743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:31619059|PMID:9536098 12113675 GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:9000346 Congenital Disorder of Glycosylation Type IIt ISO RGD:1321743 D RGD:7240710 20200610 OMIM 12113675 GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:9000346 Congenital Disorder of Glycosylation Type IIt ISO RGD:1321743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type iit PMID:25741868|PMID:27508872|PMID:28097321|PMID:28492532|PMID:32293671 12113675 GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1321743 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 12113675 GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12113698 OR4A39 olfactory receptor family 4 subfamily A member 39 gene DOID:1059 intellectual disability ISO RGD:1343611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12113698 OR4A39 olfactory receptor family 4 subfamily A member 39 gene DOID:630 genetic disease ISO RGD:1343611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113707 SCGB3A2 secretoglobin family 3A member 2 gene DOID:0050127 sinusitis ISO RGD:1346821 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:nasal mucosa PMID:21385388|REF_RGD_ID:5147389 12113707 SCGB3A2 secretoglobin family 3A member 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12113707 SCGB3A2 secretoglobin family 3A member 2 gene DOID:2841 asthma ISO RGD:1346821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, susceptibility to PMID:11813133 12113707 SCGB3A2 secretoglobin family 3A member 2 gene DOID:2841 asthma no_association ISO RGD:1346821 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-112G>A (human) PMID:18201431|REF_RGD_ID:5144230 12113707 SCGB3A2 secretoglobin family 3A member 2 gene DOID:2841 asthma severity ISO RGD:1346821 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-112G>A (human) PMID:18089940|REF_RGD_ID:5144231 12113707 SCGB3A2 secretoglobin family 3A member 2 gene DOID:2841 asthma susceptibility ISO RGD:1346821 D RGD:7240710 20190502 OMIM 12113707 SCGB3A2 secretoglobin family 3A member 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1558355 D RGD:9068941 20200609 RGD PMID:21478551|REF_RGD_ID:5144129 12113707 SCGB3A2 secretoglobin family 3A member 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1346821 D RGD:9068941 20200609 RGD PMID:20466451|REF_RGD_ID:5147390 12113707 SCGB3A2 secretoglobin family 3A member 2 gene DOID:4481 allergic rhinitis susceptibility ISO RGD:1346821 D RGD:9068941 20200609 RGD DNA:SNP: :rs7726552 (human) PMID:21410962|REF_RGD_ID:5144225 12113707 SCGB3A2 secretoglobin family 3A member 2 gene DOID:4483 rhinitis ISO RGD:1346821 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:nasal mucosa PMID:21385388|REF_RGD_ID:5147389 12113707 SCGB3A2 secretoglobin family 3A member 2 gene DOID:4483 rhinitis ISO RGD:1346821 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:17218572|REF_RGD_ID:5144232 12113707 SCGB3A2 secretoglobin family 3A member 2 gene DOID:630 genetic disease ISO RGD:1346821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113707 SCGB3A2 secretoglobin family 3A member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12113707 SCGB3A2 secretoglobin family 3A member 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1346821 D RGD:9068941 20200609 RGD PMID:19418968|REF_RGD_ID:5147392 12113707 SCGB3A2 secretoglobin family 3A member 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1558355 D RGD:9068941 20200609 RGD PMID:20466451|REF_RGD_ID:5147390 12113707 SCGB3A2 secretoglobin family 3A member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12113712 ARMCX4 armadillo repeat containing X-linked 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12113712 ARMCX4 armadillo repeat containing X-linked 4 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1347581 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 12113712 ARMCX4 armadillo repeat containing X-linked 4 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1347581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 12113712 ARMCX4 armadillo repeat containing X-linked 4 gene DOID:12849 autistic disorder ISO RGD:1347581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12113861 DDX39B DExD-box helicase 39B gene DOID:0050553 JMP syndrome ISO RGD:737407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12113861 DDX39B DExD-box helicase 39B gene DOID:11372 megacolon ISO RGD:737407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12113861 DDX39B DExD-box helicase 39B gene DOID:630 genetic disease ISO RGD:737407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113861 DDX39B DExD-box helicase 39B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737407 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12113861 DDX39B DExD-box helicase 39B gene DOID:9744 type 1 diabetes mellitus ISO RGD:737407 D RGD:9068941 20200609 RGD PMID:11756005|REF_RGD_ID:13702905 12113882 PTPRQ protein tyrosine phosphatase receptor type Q gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1345897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 12113882 PTPRQ protein tyrosine phosphatase receptor type Q gene DOID:0080269 autosomal dominant nonsyndromic deafness 73 ISO RGD:1345897 D RGD:7240710 20190315 OMIM 12113882 PTPRQ protein tyrosine phosphatase receptor type Q gene DOID:0080269 autosomal dominant nonsyndromic deafness 73 ISO RGD:1345897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 73 | ClinVar Annotator: match by term: Deafness, autosomal dominant 73 PMID:25741868|PMID:26467025|PMID:29309402 12113882 PTPRQ protein tyrosine phosphatase receptor type Q gene DOID:0110529 autosomal recessive nonsyndromic deafness 84A ISO RGD:1345897 D RGD:7240710 20180130 OMIM 12113882 PTPRQ protein tyrosine phosphatase receptor type Q gene DOID:0110529 autosomal recessive nonsyndromic deafness 84A ISO RGD:1345897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION | ClinVar Annotator: match by term: Deafness, autosomal recessive 84 PMID:20346435|PMID:25741868|PMID:26467025 12113882 PTPRQ protein tyrosine phosphatase receptor type Q gene DOID:0111223 centronuclear myopathy 1 ISO RGD:1345897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 3 PMID:28492532 12113882 PTPRQ protein tyrosine phosphatase receptor type Q gene DOID:10003 sensorineural hearing loss ISO RGD:1345897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 12113882 PTPRQ protein tyrosine phosphatase receptor type Q gene DOID:630 genetic disease ISO RGD:1345897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113882 PTPRQ protein tyrosine phosphatase receptor type Q gene DOID:9004538 Hearing Loss ISO RGD:1345897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:30311386 12113882 PTPRQ protein tyrosine phosphatase receptor type Q gene DOID:9008681 Deafness ISO RGD:1345897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 12113931 CENPV centromere protein V gene DOID:630 genetic disease ISO RGD:1351678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113941 WNT7A Wnt family member 7A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:69159 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12113941 WNT7A Wnt family member 7A gene DOID:0060417 3p deletion syndrome ISO RGD:69159 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12113941 WNT7A Wnt family member 7A gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:69159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex 12113941 WNT7A Wnt family member 7A gene DOID:0090067 Fuhrmann syndrome ISO RGD:69159 D RGD:7240710 20180130 OMIM 12113941 WNT7A Wnt family member 7A gene DOID:0090067 Fuhrmann syndrome ISO RGD:69159 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fuhrmann syndrome PMID:16826533|PMID:25741868|PMID:28492532|PMID:9128926 12113941 WNT7A Wnt family member 7A gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:69159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 12113941 WNT7A Wnt family member 7A gene DOID:0112181 Schinzel type phocomelia ISO RGD:69159 D RGD:7240710 20180130 OMIM 12113941 WNT7A Wnt family member 7A gene DOID:0112181 Schinzel type phocomelia ISO RGD:69159 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Schinzel phocomelia syndrome PMID:16826533|PMID:20949531|PMID:21271649|PMID:21344627|PMID:25741868 12113941 WNT7A Wnt family member 7A gene DOID:127 leiomyoma ISO RGD:69159 D RGD:9068941 20200609 RGD Uterine Leiomyoma; mRNA:decreased expression,increased expression:tumor:decreased in 20/30, increased in 9/30 tumors vs paired adjacent myometria PMID:11232041|REF_RGD_ID:2298847 12113941 WNT7A Wnt family member 7A gene DOID:630 genetic disease ISO RGD:69159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113941 WNT7A Wnt family member 7A gene DOID:9002739 Female Urogenital Diseases ISO RGD:69159 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 12113941 WNT7A Wnt family member 7A gene DOID:9002762 Ovarian Neoplasms ISO RGD:69159 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25174399 12113941 WNT7A Wnt family member 7A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69160 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:8065359|PMID:9419423|REF_RGD_ID:2298848|REF_RGD_ID:2298863 12113941 WNT7A Wnt family member 7A gene DOID:9007150 Urogenital Neoplasms ISO RGD:69159 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15751030 12113954 OR52R1 olfactory receptor family 52 subfamily R member 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1354346 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12113954 OR52R1 olfactory receptor family 52 subfamily R member 1 gene DOID:630 genetic disease ISO RGD:1354346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113975 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:0080475 psoriasis 2 ISO RGD:1345995 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Psoriasis 2 PMID:24033266|PMID:25741868|PMID:28492532 12113975 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1345995 D RGD:7240710 20191106 OMIM 12113975 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:10521831|PMID:10601282|PMID:10727844|PMID:11182930|PMID:11343308|PMID:11668611|PMID:11793481|PMID:11903343|PMID:12000360|PMID:12438493|PMID:12490062|PMID:12702166|PMID:15146460|PMID:15542396|PMID:15637719|PMID:16174644|PMID:16199547|PMID:17128482|PMID:17576681|PMID:18407553|PMID:19099774|PMID:19383612|PMID:21061399|PMID:21204211|PMID:21228398|PMID:21393040|PMID:21455105|PMID:21671382|PMID:21910976|PMID:21963080|PMID:22002444|PMID:22976768|PMID:22976788|PMID:23084433|PMID:24314109|PMID:24347096|PMID:24576347|PMID:24816101|PMID:24875751|PMID:25113300|PMID:25557439|PMID:25741868|PMID:25807448|PMID:26075876|PMID:26331342|PMID:26648750|PMID:26787381|PMID:27590925|PMID:27896117|PMID:28101780|PMID:28283807|PMID:28492532|PMID:28844463|PMID:29023963|PMID:30070758|PMID:30593151|PMID:30809705|PMID:31536183|PMID:31718697|PMID:32036093|PMID:32214227|PMID:32447333|PMID:32581362|PMID:33673364|PMID:34690354|PMID:34991944|PMID:5542396|PMID:7493035|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9536098|PMID:9554748|PMID:9700599|PMID:9744479 12113975 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:1059 intellectual disability ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24576347|PMID:25741868|PMID:28492532|PMID:32214227|PMID:9285796 12113975 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:12798 mucopolysaccharidosis ISO RGD:1345995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidoses | ClinVar Annotator: match by term: Mucopolysaccharidosis PMID:10521831|PMID:10601282|PMID:11182930|PMID:11343308|PMID:12490062|PMID:15146460|PMID:15542396|PMID:18407553|PMID:21061399|PMID:21204211|PMID:21671382|PMID:21910976|PMID:22976768|PMID:22976788|PMID:24314109|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28492532|PMID:28844463|PMID:29023963|PMID:30809705|PMID:31536183|PMID:32581362|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9554748|PMID:9700599|PMID:9744479 12113975 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:12801 mucopolysaccharidosis III IAGP D RGD:12801476 20210915 OMIA Mucopolysaccharidosis IIIA PMID:9667374|PMID:10950929|PMID:11370881|PMID:11829484|PMID:19699666|PMID:17846229|PMID:21550404|PMID:21139569|PMID:25421091|PMID:25246230|PMID:27491210|PMID:26762778|PMID:27832416|PMID:32219101|PMID:29923090|PMID:33969809 12113975 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome PMID:10521831|PMID:10601282|PMID:10727844|PMID:11182930|PMID:11343308|PMID:11668611|PMID:12490062|PMID:15146460|PMID:15542396|PMID:18407553|PMID:21061399|PMID:21204211|PMID:21671382|PMID:21910976|PMID:22002444|PMID:22976768|PMID:22976788|PMID:24314109|PMID:24816101|PMID:24875751|PMID:25557439|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:27590925|PMID:28492532|PMID:28844463|PMID:29023963|PMID:30809705|PMID:31536183|PMID:32581362|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9554748|PMID:9700599|PMID:9744479 12113975 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:1289 neurodegenerative disease ISO RGD:1345995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:10601282|PMID:11343308|PMID:12490062|PMID:15146460|PMID:18407553|PMID:21061399|PMID:21671382|PMID:22976768|PMID:22976788|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28492532|PMID:29023963|PMID:30809705|PMID:31536183|PMID:32581362|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9700599 12113975 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:13250 diarrhea ISO RGD:1345995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diarrhea PMID:15146460|PMID:18407553|PMID:21061399|PMID:21671382|PMID:22976768|PMID:25741868|PMID:26787381|PMID:28492532|PMID:29023963|PMID:31536183|PMID:32581362|PMID:9401012 12113975 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:22521419|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30387497 12113975 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:2978 carbohydrate metabolic disorder ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of mucopolysaccharide metabolism PMID:25741868|PMID:28492532 12113975 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:630 genetic disease ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10521831|PMID:10601282|PMID:10727844|PMID:11182930|PMID:11343308|PMID:12000360|PMID:12490062|PMID:12702166|PMID:15146460|PMID:15542396|PMID:18407553|PMID:19099774|PMID:21061399|PMID:21204211|PMID:21228398|PMID:21910976|PMID:22976768|PMID:22976788|PMID:24314109|PMID:24347096|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:27590925|PMID:28492532|PMID:29023963|PMID:30070758|PMID:30593151|PMID:30809705|PMID:31536183|PMID:34991944|PMID:5542396|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9554748|PMID:9700599|PMID:9744479 12113975 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:8501 fundus dystrophy ISO RGD:1345995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15146460|PMID:18407553|PMID:21061399|PMID:21671382|PMID:22976768|PMID:25741868|PMID:26787381|PMID:28492532|PMID:29023963|PMID:31536183|PMID:32581362|PMID:9401012 12113975 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:9008086 Developmental Disabilities ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:15146460|PMID:18407553|PMID:21061399|PMID:21671382|PMID:22976768|PMID:25741868|PMID:26787381|PMID:27590925|PMID:28492532|PMID:29023963|PMID:31536183|PMID:32581362|PMID:7493035|PMID:9158154|PMID:9285796|PMID:9401012 12113975 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:9212 pityriasis rubra pilaris ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:16199547|PMID:17576681|PMID:22521419|PMID:24033266|PMID:25741868|PMID:28166811|PMID:28492532|PMID:30248356|PMID:30387497|PMID:30998217|PMID:9536098 12113975 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:9650 pathologic nystagmus ISO RGD:1345995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:15146460|PMID:18407553|PMID:21061399|PMID:21671382|PMID:22976768|PMID:25741868|PMID:26787381|PMID:28492532|PMID:29023963|PMID:31536183|PMID:32581362|PMID:9401012 12113986 CASP4 caspase 4, apoptosis-related cysteine peptidase gene DOID:0080600 COVID-19 ISO RGD:1343162 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12113986 CASP4 caspase 4, apoptosis-related cysteine peptidase gene DOID:1059 intellectual disability ISO RGD:1343162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12113986 CASP4 caspase 4, apoptosis-related cysteine peptidase gene DOID:12704 ataxia telangiectasia ISO RGD:1343162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12113986 CASP4 caspase 4, apoptosis-related cysteine peptidase gene DOID:5419 schizophrenia ISO RGD:1343162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 12113986 CASP4 caspase 4, apoptosis-related cysteine peptidase gene DOID:630 genetic disease ISO RGD:1343162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113986 CASP4 caspase 4, apoptosis-related cysteine peptidase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12113986 CASP4 caspase 4, apoptosis-related cysteine peptidase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1343162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12113996 CD63 CD63 molecule gene DOID:11105 fundus albipunctatus ISO RGD:735587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fundus albipunctatus, autosomal recessive | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens PMID:10369264|PMID:10617778|PMID:11053295|PMID:11053296|PMID:11078852|PMID:11675386|PMID:11812441|PMID:15007239|PMID:15302662|PMID:15790919|PMID:17476461|PMID:18949499|PMID:20829743|PMID:21529959|PMID:22815624|PMID:25741868|PMID:25820994|PMID:28393863|PMID:28492532|PMID:29847639|PMID:32232344 12113996 CD63 CD63 molecule gene DOID:3407 carotid artery disease disease_progression ISO RGD:735587 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:platelet PMID:15817881|REF_RGD_ID:2314188 12113996 CD63 CD63 molecule gene DOID:630 genetic disease ISO RGD:735587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12113996 CD63 CD63 molecule gene DOID:8501 fundus dystrophy ISO RGD:735587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11675386|PMID:20829743|PMID:22815624|PMID:23462753|PMID:28492532|PMID:29847639 12113996 CD63 CD63 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12113996 CD63 CD63 molecule gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:735587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 12113996 CD63 CD63 molecule gene DOID:9007096 Stroke ISO RGD:735587 D RGD:9068941 20200609 RGD protein:increased expression:platelet PMID:19233449|REF_RGD_ID:2314182 12113996 CD63 CD63 molecule gene DOID:9743 diabetic neuropathy ISO RGD:735587 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:platelet PMID:10547212|REF_RGD_ID:2314203 12114008 ASB3 ankyrin repeat and SOCS box containing 3 gene DOID:630 genetic disease ISO RGD:1318243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12114038 MRPS18B mitochondrial ribosomal protein S18B gene DOID:11372 megacolon ISO RGD:1349132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12114038 MRPS18B mitochondrial ribosomal protein S18B gene DOID:630 genetic disease ISO RGD:1349132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12114038 MRPS18B mitochondrial ribosomal protein S18B gene DOID:9000217 Stomach Neoplasms ISO RGD:1349132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12114038 MRPS18B mitochondrial ribosomal protein S18B gene DOID:9000918 Disease Progression ISO RGD:1349132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12114049 POLH DNA polymerase eta gene DOID:0050427 xeroderma pigmentosum ISO RGD:1320482 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:10398605|PMID:10871396|PMID:11121129|PMID:17344931|PMID:18368133|PMID:18703314|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30414346|PMID:33558524 12114049 POLH DNA polymerase eta gene DOID:0050444 infantile Refsum disease ISO RGD:1320482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12114049 POLH DNA polymerase eta gene DOID:0050671 female breast cancer susceptibility ISO RGD:1320482 D RGD:9068941 20220609 RGD DNA:missense mutation:cds: (human) PMID:30303537|REF_RGD_ID:152995259 12114049 POLH DNA polymerase eta gene DOID:0110847 xeroderma pigmentosum variant type ISO RGD:1320482 D RGD:7240710 20180130 OMIM 12114049 POLH DNA polymerase eta gene DOID:0110847 xeroderma pigmentosum variant type ISO RGD:1320482 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum variant type PMID:10385124|PMID:10398605|PMID:10871396|PMID:11121129|PMID:17344931|PMID:18368133|PMID:18703314|PMID:24033266|PMID:24130121|PMID:25741868|PMID:26884178|PMID:27004399|PMID:28202063|PMID:28492532|PMID:30414346|PMID:33558524|PMID:35111200|PMID:36308448 12114049 POLH DNA polymerase eta gene DOID:1612 breast cancer ISO RGD:1320482 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532|PMID:30414346|PMID:33558524 12114049 POLH DNA polymerase eta gene DOID:630 genetic disease ISO RGD:1320482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12114049 POLH DNA polymerase eta gene DOID:905 Zellweger syndrome ISO RGD:1320482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12114072 WDR86 WD repeat domain 86 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1604947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 12114072 WDR86 WD repeat domain 86 gene DOID:2843 long QT syndrome ISO RGD:1604947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 12114072 WDR86 WD repeat domain 86 gene DOID:630 genetic disease ISO RGD:1604947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12114086 RAD51AP2 RAD51 associated protein 2 gene DOID:630 genetic disease ISO RGD:2311158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12114093 NRCAM neuronal cell adhesion molecule gene DOID:0060041 autism spectrum disorder ISO RGD:735378 D RGD:9068941 20220825 MouseDO 12114093 NRCAM neuronal cell adhesion molecule gene DOID:12849 autistic disorder ISO RGD:731343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17106428|PMID:18664314 12114093 NRCAM neuronal cell adhesion molecule gene DOID:303 substance-related disorder ISO RGD:731343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123759 12114093 NRCAM neuronal cell adhesion molecule gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12114093 NRCAM neuronal cell adhesion molecule gene DOID:630 genetic disease ISO RGD:731343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:35108495 12114093 NRCAM neuronal cell adhesion molecule gene DOID:9002189 High Myopia ISO RGD:731343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12114093 NRCAM neuronal cell adhesion molecule gene DOID:9007937 NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES ISO RGD:731343 D RGD:7240710 20220706 OMIM 12114093 NRCAM neuronal cell adhesion molecule gene DOID:9007937 NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES ISO RGD:731343 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: NRCAM-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with neuromuscular and skeletal abnormalities PMID:25741868|PMID:35108495 12114093 NRCAM neuronal cell adhesion molecule gene DOID:9008443 Colorectal Neoplasms ISO RGD:731343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 12114093 NRCAM neuronal cell adhesion molecule gene DOID:9008939 Breast Neoplasms ISO RGD:731343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:1059 intellectual disability ISO RGD:735247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:10754 otitis media ISO RGD:3934 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:epithelial cell PMID:15799573|REF_RGD_ID:5144051 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:11049 meconium aspiration syndrome ISO RGD:735247 D RGD:9068941 20200609 RGD protein:increased expression:broncho-alveolar lavage fluid, meconium: PMID:21567110|REF_RGD_ID:5144123 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:735247 D RGD:9068941 20200609 RGD PMID:11435254|REF_RGD_ID:5144211 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:11475 D RGD:9068941 20200609 RGD PMID:12847279|REF_RGD_ID:5144208 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:2797 idiopathic interstitial pneumonia ISO RGD:735247 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15467329|REF_RGD_ID:5144148 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:2799 bronchiolitis obliterans ISO RGD:735247 D RGD:9068941 20200609 RGD associated with lung transplantation; protein:decreased expression:serum,bronchoalveolar lavage PMID:11981419|REF_RGD_ID:5147386 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:2841 asthma ISO RGD:735247 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Asthma, susceptibility to PMID:12100044|PMID:9550363|PMID:9643286 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:2841 asthma susceptibility ISO RGD:735247 D RGD:9068941 20200609 RGD associated with allergic rhinitis; DNA:SNP:exon:38G>A (human) PMID:21255142|REF_RGD_ID:5144226 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:2921 glomerulonephritis ISO RGD:735247 D RGD:9068941 20200609 RGD recombinant human SCGB1A1 in "experimental crescentic glomerulonephritis" model (mice) PMID:18558621|REF_RGD_ID:6903251 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:11475 D RGD:9068941 20220825 MouseDO OMIM:161950 | OMIM:616818 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:735247 D RGD:9068941 20200609 RGD PMID:11967037|REF_RGD_ID:6903255 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:3021 acute kidney failure ISO RGD:3934 D RGD:9068941 20200609 RGD associated with LPS induced endotoxemia PMID:18824919|REF_RGD_ID:2313129 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:3770 pulmonary fibrosis ISO RGD:3934 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:lung PMID:16369113|REF_RGD_ID:5144139 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:3770 pulmonary fibrosis ISO RGD:735247 D RGD:9068941 20200609 RGD associated with scleroderma, systemic; protein:increased expression:serum: PMID:21239758|REF_RGD_ID:5144130 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:4481 allergic rhinitis ISO RGD:11475 D RGD:9068941 20200609 RGD mRNA:decreased expression:nasal mucosa, lung PMID:17882576|REF_RGD_ID:5144135 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:850 lung disease ISO RGD:735247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16052892 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:11475 D RGD:9068941 20200609 RGD PMID:11597923|REF_RGD_ID:5144210 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:11475 D RGD:9068941 20200609 RGD PMID:15608088|REF_RGD_ID:5144143 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:9004610 Acute Lung Injury ISO RGD:11475 D RGD:9068941 20200609 RGD PMID:16226776|REF_RGD_ID:5144142 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:9004610 Acute Lung Injury ISO RGD:3934 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:18420837|REF_RGD_ID:5143982 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:9004659 Respiration Disorders ISO RGD:735247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18288317 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:9005372 Inflammation ISO RGD:735247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16052892 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:3934 D RGD:9068941 20200609 RGD PMID:11107082|REF_RGD_ID:5144055 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:9007480 Hyperoxia ISO RGD:11475 D RGD:9068941 20200609 RGD mRNA:decreased expression:epithelial cell PMID:9555576|REF_RGD_ID:5144215 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:735247 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:nasal lavage fluid PMID:15836756|REF_RGD_ID:5144234 12114148 SCGB1A1 secretoglobin family 1A member 1 gene DOID:9498 pulmonary eosinophilia ISO RGD:735247 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:15467329|REF_RGD_ID:5144148 12114155 DBNDD2 dysbindin domain containing 2 gene DOID:2234 focal epilepsy ISO RGD:1313063 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12114155 DBNDD2 dysbindin domain containing 2 gene DOID:630 genetic disease ISO RGD:1313063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12114155 DBNDD2 dysbindin domain containing 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313063 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12114155 DBNDD2 dysbindin domain containing 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12114183 ATG16L1 autophagy related 16 like 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:1321647 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192919 12114183 ATG16L1 autophagy related 16 like 1 gene DOID:0060476 Perlman syndrome ISO RGD:1321647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12114183 ATG16L1 autophagy related 16 like 1 gene DOID:0060478 Zika fever ISO RGD:1321647 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28694387 12114183 ATG16L1 autophagy related 16 like 1 gene DOID:0110885 inflammatory bowel disease 10 ISO RGD:1321647 D RGD:7240710 20180130 OMIM 12114183 ATG16L1 autophagy related 16 like 1 gene DOID:0110885 inflammatory bowel disease 10 ISO RGD:1321647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 10, susceptibility to PMID:17200669|PMID:17435756|PMID:18438405|PMID:18852889|PMID:19337756|PMID:24553140|PMID:27273576 12114183 ATG16L1 autophagy related 16 like 1 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1321647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12114183 ATG16L1 autophagy related 16 like 1 gene DOID:630 genetic disease ISO RGD:1321647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12114183 ATG16L1 autophagy related 16 like 1 gene DOID:8778 Crohn's disease ISO RGD:1321647 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17435756|PMID:18438406 12114183 ATG16L1 autophagy related 16 like 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1310631 D RGD:9068941 20200609 RGD PMID:24998254|REF_RGD_ID:11561938 12114212 PLEKHA5 pleckstrin homology domain containing A5 gene DOID:630 genetic disease ISO RGD:1344659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12114212 PLEKHA5 pleckstrin homology domain containing A5 gene DOID:9004934 BILATERAL CLEFT LIP ISO RGD:1344659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral cleft lip PMID:25741868 12114212 PLEKHA5 pleckstrin homology domain containing A5 gene DOID:9296 cleft lip ISO RGD:1344659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft lip with or without cleft palate PMID:29805042 12114279 C28H10orf120 chromosome 28 C10orf120 homolog gene DOID:2340 craniosynostosis ISO RGD:1604915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 12114279 C28H10orf120 chromosome 28 C10orf120 homolog gene DOID:630 genetic disease ISO RGD:1604915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12114286 TTC19 tetratricopeptide repeat domain 19 gene DOID:0060351 mitochondrial complex III deficiency nuclear type 2 ISO RGD:1353382 D RGD:7240710 20180130 OMIM 12114286 TTC19 tetratricopeptide repeat domain 19 gene DOID:0060351 mitochondrial complex III deficiency nuclear type 2 ISO RGD:1353382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 2 PMID:17576681|PMID:21278747|PMID:23532514|PMID:24368687|PMID:24397319|PMID:25741868|PMID:25887401|PMID:28492532|PMID:9536098 12114286 TTC19 tetratricopeptide repeat domain 19 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1353382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 12114286 TTC19 tetratricopeptide repeat domain 19 gene DOID:1289 neurodegenerative disease ISO RGD:1353382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278747 12114286 TTC19 tetratricopeptide repeat domain 19 gene DOID:5223 infertility ISO RGD:1353382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278747 12114286 TTC19 tetratricopeptide repeat domain 19 gene DOID:630 genetic disease ISO RGD:1353382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21278747|PMID:25741868|PMID:25887401|PMID:28492532 12114286 TTC19 tetratricopeptide repeat domain 19 gene DOID:863 nervous system disease ISO RGD:1353382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278747 12114286 TTC19 tetratricopeptide repeat domain 19 gene DOID:9006230 Neurologic Gait Disorders ISO RGD:1353382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278747 12114300 HEATR5A HEAT repeat containing 5A gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1347266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 12114300 HEATR5A HEAT repeat containing 5A gene DOID:0060892 late onset Parkinson's disease ISO RGD:1347266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 12114300 HEATR5A HEAT repeat containing 5A gene DOID:0112088 nuclear type mitochondrial complex I deficiency 21 ISO RGD:1347266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 12114300 HEATR5A HEAT repeat containing 5A gene DOID:14330 Parkinson's disease ISO RGD:1347266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson's disease PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 12114300 HEATR5A HEAT repeat containing 5A gene DOID:630 genetic disease ISO RGD:1347266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12114300 HEATR5A HEAT repeat containing 5A gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1347266 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12114361 GOLGA2 golgin A2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1347402 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12114361 GOLGA2 golgin A2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1347402 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12114361 GOLGA2 golgin A2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1347402 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12114361 GOLGA2 golgin A2 gene DOID:440 neuromuscular disease ISO RGD:1347402 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:25741868|PMID:34424553 12114361 GOLGA2 golgin A2 gene DOID:630 genetic disease ISO RGD:1347402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12114361 GOLGA2 golgin A2 gene DOID:9002066 Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities ISO RGD:1347402 D RGD:7240710 20230215 OMIM 12114361 GOLGA2 golgin A2 gene DOID:9002066 Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities ISO RGD:1347402 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay with hypotonia, myopathy, and brain abnormalities PMID:25741868|PMID:26742501|PMID:30237576|PMID:34424553 12114389 GUCY2F guanylate cyclase 2F, retinal gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:731765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 12114389 GUCY2F guanylate cyclase 2F, retinal gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12114389 GUCY2F guanylate cyclase 2F, retinal gene DOID:12849 autistic disorder ISO RGD:731765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12114389 GUCY2F guanylate cyclase 2F, retinal gene DOID:630 genetic disease ISO RGD:731765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12114389 GUCY2F guanylate cyclase 2F, retinal gene DOID:8466 retinal degeneration ISO RGD:731766 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina: PMID:15718098|REF_RGD_ID:10045823 12114409 NMRK1 nicotinamide riboside kinase 1 gene DOID:630 genetic disease ISO RGD:1343469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12114432 NEU3 neuraminidase 3 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1347886 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12114432 NEU3 neuraminidase 3 gene DOID:1059 intellectual disability ISO RGD:1347886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12114432 NEU3 neuraminidase 3 gene DOID:630 genetic disease ISO RGD:1347886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12114432 NEU3 neuraminidase 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1347886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12114447 FAIM Fas apoptotic inhibitory molecule gene DOID:630 genetic disease ISO RGD:1605660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12114471 KATNAL1 katanin catalytic subunit A1 like 1 gene DOID:630 genetic disease ISO RGD:1346255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12114503 PER2 period circadian regulator 2 gene DOID:0050628 advanced sleep phase syndrome ISO RGD:737181 D RGD:9068941 20200609 RGD familial advanced sleep-phase syndrome, OMIM:604348, DNA:point mutation:exon:S662G PMID:11232563|REF_RGD_ID:1600411 12114503 PER2 period circadian regulator 2 gene DOID:0060001 withdrawal disorder ISO RGD:737181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20434889|PMID:20738730 12114503 PER2 period circadian regulator 2 gene DOID:0060041 autism spectrum disorder ISO RGD:737181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12114503 PER2 period circadian regulator 2 gene DOID:0110011 advanced sleep phase syndrome 1 ISO RGD:737181 D RGD:7240710 20180130 OMIM 12114503 PER2 period circadian regulator 2 gene DOID:0110011 advanced sleep phase syndrome 1 ISO RGD:737181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Advanced sleep phase syndrome 1 PMID:11232563|PMID:25741868 12114503 PER2 period circadian regulator 2 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:737181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12114503 PER2 period circadian regulator 2 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:737181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12114503 PER2 period circadian regulator 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:737181 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12114503 PER2 period circadian regulator 2 gene DOID:1059 intellectual disability ISO RGD:737181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12114503 PER2 period circadian regulator 2 gene DOID:535 sleep disorder ISO RGD:737181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sleep disturbance 12114503 PER2 period circadian regulator 2 gene DOID:630 genetic disease ISO RGD:737181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12114503 PER2 period circadian regulator 2 gene DOID:8552 chronic myeloid leukemia ISO RGD:737181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16999817 12114503 PER2 period circadian regulator 2 gene DOID:9000499 Alcoholic Intoxication ISO RGD:737181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15608650 12114503 PER2 period circadian regulator 2 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:737181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:0050741 alcohol dependence ISO RGD:2683 D RGD:9068941 20200609 RGD protein:increased activity:plasma,liver,intestine: PMID:6113606|REF_RGD_ID:14701046 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:0080546 non-alcoholic fatty liver ISO RGD:735681 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:23730648|REF_RGD_ID:14747013 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:0111257 gamma-glutamyl transpeptidase deficiency ISO RGD:735681 D RGD:7240710 20190315 OMIM 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:0111257 gamma-glutamyl transpeptidase deficiency ISO RGD:735681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: gamma-Glutamyltransferase deficiency PMID:25741868 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:11714 gestational diabetes ISO RGD:735681 D RGD:9068941 20200609 RGD protein:increased activity:blood PMID:18937705|REF_RGD_ID:2315598 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:13608 biliary atresia disease_progression ISO RGD:735681 D RGD:9068941 20200609 RGD PMID:29056230|REF_RGD_ID:14701039 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:1574 alcohol use disorder ISO RGD:735681 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12747453 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:1826 epilepsy ISO RGD:735681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:1909 melanoma disease_progression ISO RGD:735681 D RGD:9068941 20200609 RGD PMID:6120756|REF_RGD_ID:14747014 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:305 carcinoma ISO RGD:735681 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:409 liver disease ISO RGD:735681 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:5022 aflatoxins-related hepatocellular carcinoma ISO RGD:2683 D RGD:9068941 20220707 RGD associated with estrogen excess;protein:increased activity;liver (rat) PMID:6133380|REF_RGD_ID:152998935 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:5082 liver cirrhosis ISO RGD:735681 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic; PMID:15997630|REF_RGD_ID:14747030 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:735681 D RGD:9068941 20200609 RGD PMID:27793641|REF_RGD_ID:14701041 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:5082 liver cirrhosis severity ISO RGD:735681 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic; PMID:25254524|REF_RGD_ID:14747031 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:735681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:5844 myocardial infarction ISO RGD:735681 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19419996 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:630 genetic disease ISO RGD:735681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735681 D RGD:9068941 20200609 RGD RNA,protein:increased expression, activity:liver: PMID:10572675|REF_RGD_ID:14701048 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735681 D RGD:9068941 20200609 RGD PMID:11940314|REF_RGD_ID:14701040 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735681 D RGD:9068941 20200609 RGD HBV associated PMID:27793641|REF_RGD_ID:14701041 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:824 periodontitis ISO RGD:735681 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12747453 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:8947 diabetic retinopathy ISO RGD:735681 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus,Insulin-Dependent;protein:increased activity:serum PMID:11311965|REF_RGD_ID:2315614 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735681 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:9000528 Coronary Disease ISO RGD:735681 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:serum PMID:16772340|REF_RGD_ID:2315604 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:9001542 Albuminuria ISO RGD:735681 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; protein:increased activity:serum PMID:15890893|REF_RGD_ID:2315606 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:9001594 Paucibacillary Leprosy ISO RGD:735681 D RGD:9068941 20200609 RGD protein:increased activity:blood: PMID:1680936|REF_RGD_ID:14747017 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735681 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:735681 D RGD:9068941 20200609 RGD PMID:10934805|REF_RGD_ID:14747019 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735681 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2683 D RGD:9068941 20200609 RGD protein:increased activity:serum PMID:18291430|REF_RGD_ID:2315577 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:9005723 Multibacillary Leprosy ISO RGD:735681 D RGD:9068941 20200609 RGD protein:increased activity:blood: PMID:1680936|REF_RGD_ID:14747017 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:9005725 Iron Overload ISO RGD:2683 D RGD:9068941 20200609 RGD protein:increased activity:liver PMID:9559866|REF_RGD_ID:14747018 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:735681 D RGD:9068941 20200609 RGD PMID:24847614|REF_RGD_ID:14747015 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:735681 D RGD:9068941 20200609 RGD PMID:17095717|REF_RGD_ID:1601300 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2683 D RGD:9068941 20200609 RGD PMID:10934156|REF_RGD_ID:14701049 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:9351 diabetes mellitus ISO RGD:735681 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis; protein:increased activity:plasma PMID:17888134|REF_RGD_ID:2315601 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735681 D RGD:9068941 20200609 RGD PMID:19936701|REF_RGD_ID:2315593 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:9452 fatty liver disease disease_progression ISO RGD:735681 D RGD:9068941 20200609 RGD PMID:19670414|REF_RGD_ID:14747016 12114548 GGT1 gamma-glutamyltransferase 1 gene DOID:9743 diabetic neuropathy ISO RGD:735681 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus,Insulin-Dependent;protein:increased activity:serum PMID:11311965|REF_RGD_ID:2315614 12114566 BLNK B cell linker gene DOID:0060027 agammaglobulinemia 4 ISO RGD:1347273 D RGD:7240710 20180130 OMIM 12114566 BLNK B cell linker gene DOID:0060027 agammaglobulinemia 4 ISO RGD:1347273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:10583958|PMID:16199547|PMID:17576681|PMID:24033266|PMID:24582315|PMID:25741868|PMID:28492532|PMID:30619340|PMID:9536098 12114566 BLNK B cell linker gene DOID:2583 agammaglobulinemia ISO RGD:1347273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12114566 BLNK B cell linker gene DOID:2583 agammaglobulinemia susceptibility ISO RGD:1347273 D RGD:9068941 20200609 RGD DNA:splice-site mutation PMID:10583958|REF_RGD_ID:1600518 12114566 BLNK B cell linker gene DOID:630 genetic disease ISO RGD:1347273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12114591 SLK STE20 like kinase gene DOID:303 substance-related disorder ISO RGD:733761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12114591 SLK STE20 like kinase gene DOID:630 genetic disease ISO RGD:733761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12114591 SLK STE20 like kinase gene DOID:9004009 Reperfusion Injury ISO RGD:3780 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:12965890|REF_RGD_ID:2304069 12114617 CPLX2 complexin 2 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:732283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12114617 CPLX2 complexin 2 gene DOID:0112103 Sotos syndrome 1 ISO RGD:732283 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12114617 CPLX2 complexin 2 gene DOID:2468 psychotic disorder ISO RGD:732283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12114617 CPLX2 complexin 2 gene DOID:3312 bipolar disorder ISO RGD:732283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12114617 CPLX2 complexin 2 gene DOID:5419 schizophrenia ISO RGD:732283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11483314|PMID:14708030 12114617 CPLX2 complexin 2 gene DOID:5419 schizophrenia ISO RGD:732284 D RGD:9068941 20220825 MouseDO OMIM:181500 12114631 MXRA8 matrix remodeling associated 8 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1346231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12114631 MXRA8 matrix remodeling associated 8 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1346231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12114631 MXRA8 matrix remodeling associated 8 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1346231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12114631 MXRA8 matrix remodeling associated 8 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1346231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12114631 MXRA8 matrix remodeling associated 8 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1346231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12114631 MXRA8 matrix remodeling associated 8 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1346231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12114631 MXRA8 matrix remodeling associated 8 gene DOID:0111934 immunodeficiency 38 ISO RGD:1346231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12114631 MXRA8 matrix remodeling associated 8 gene DOID:0111935 immunodeficiency 16 ISO RGD:1346231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12114631 MXRA8 matrix remodeling associated 8 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1346231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12114631 MXRA8 matrix remodeling associated 8 gene DOID:630 genetic disease ISO RGD:1346231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12114631 MXRA8 matrix remodeling associated 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12114631 MXRA8 matrix remodeling associated 8 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1346231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12114631 MXRA8 matrix remodeling associated 8 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1346231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12114649 SLC6A17 solute carrier family 6 member 17 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1603474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 12114649 SLC6A17 solute carrier family 6 member 17 gene DOID:0081212 autosomal recessive intellectual developmental disorder 48 ISO RGD:1603474 D RGD:7240710 20180130 OMIM 12114649 SLC6A17 solute carrier family 6 member 17 gene DOID:0081212 autosomal recessive intellectual developmental disorder 48 ISO RGD:1603474 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome PMID:25704603|PMID:25741868|PMID:28492532 12114649 SLC6A17 solute carrier family 6 member 17 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1603474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12114649 SLC6A17 solute carrier family 6 member 17 gene DOID:12849 autistic disorder ISO RGD:1603474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12114649 SLC6A17 solute carrier family 6 member 17 gene DOID:2843 long QT syndrome ISO RGD:1603474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12114649 SLC6A17 solute carrier family 6 member 17 gene DOID:630 genetic disease ISO RGD:1603474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12114671 S100B S100 calcium binding protein B gene DOID:0050073 invasive aspergillosis ISO RGD:11252 D RGD:9068941 20200609 RGD PMID:21423669|REF_RGD_ID:5508765 12114671 S100B S100 calcium binding protein B gene DOID:0050847 sleep apnea ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, hippocampus, astrocyte PMID:20002528|REF_RGD_ID:5508790 12114671 S100B S100 calcium binding protein B gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:737117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 12114671 S100B S100 calcium binding protein B gene DOID:10652 Alzheimer's disease ISO RGD:11252 D RGD:9068941 20200609 RGD PMID:21080947|REF_RGD_ID:5508775 12114671 S100B S100 calcium binding protein B gene DOID:10652 Alzheimer's disease ISO RGD:3615 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:20953641|REF_RGD_ID:5508780 12114671 S100B S100 calcium binding protein B gene DOID:10652 Alzheimer's disease severity ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:19705461|PMID:20105309|REF_RGD_ID:5508787|REF_RGD_ID:5508798 12114671 S100B S100 calcium binding protein B gene DOID:10763 hypertension ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21130083|REF_RGD_ID:5508770 12114671 S100B S100 calcium binding protein B gene DOID:11054 urinary bladder cancer ISO RGD:11252 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder urothelium PMID:17970044|REF_RGD_ID:2316906 12114671 S100B S100 calcium binding protein B gene DOID:11054 urinary bladder cancer ISO RGD:3615 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder urothelium PMID:17970044|REF_RGD_ID:2316906 12114671 S100B S100 calcium binding protein B gene DOID:11054 urinary bladder cancer ISO RGD:737117 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder urothelium PMID:17970044|REF_RGD_ID:2316906 12114671 S100B S100 calcium binding protein B gene DOID:11088 asphyxia neonatorum ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:14707571|REF_RGD_ID:5508819 12114671 S100B S100 calcium binding protein B gene DOID:11832 visual epilepsy ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:15464860|REF_RGD_ID:5509052 12114671 S100B S100 calcium binding protein B gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:20855493|REF_RGD_ID:5508781 12114671 S100B S100 calcium binding protein B gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:737117 D RGD:9068941 20210618 RGD protein:increased expression:serum (human) PMID:27929120|REF_RGD_ID:127284887 12114671 S100B S100 calcium binding protein B gene DOID:12783 migraine without aura ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21293918|REF_RGD_ID:5508769 12114671 S100B S100 calcium binding protein B gene DOID:12849 autistic disorder ISO RGD:737117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12114671 S100B S100 calcium binding protein B gene DOID:12930 dilated cardiomyopathy ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18068619|REF_RGD_ID:2324684 12114671 S100B S100 calcium binding protein B gene DOID:13100 intracranial vasospasm ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12186470 12114671 S100B S100 calcium binding protein B gene DOID:13413 hepatic encephalopathy ISO RGD:737117 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34792689 12114671 S100B S100 calcium binding protein B gene DOID:13564 aspergillosis ISO RGD:737117 D RGD:9068941 20200609 RGD DNA:SNP: :427C>T (human) PMID:22114731|REF_RGD_ID:8695981 12114671 S100B S100 calcium binding protein B gene DOID:14250 Down syndrome ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12888777 12114671 S100B S100 calcium binding protein B gene DOID:14330 Parkinson's disease ISO RGD:11252 D RGD:9068941 20200609 RGD PMID:21725169|REF_RGD_ID:5508763 12114671 S100B S100 calcium binding protein B gene DOID:14330 Parkinson's disease ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:21402140|REF_RGD_ID:5508766 12114671 S100B S100 calcium binding protein B gene DOID:1440 Machado-Joseph disease ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21743141|REF_RGD_ID:5508762 12114671 S100B S100 calcium binding protein B gene DOID:1596 depressive disorder ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:21843601|REF_RGD_ID:5508824 12114671 S100B S100 calcium binding protein B gene DOID:1790 malignant mesothelioma ISO RGD:737117 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 12114671 S100B S100 calcium binding protein B gene DOID:1826 epilepsy ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:21402140|REF_RGD_ID:5508766 12114671 S100B S100 calcium binding protein B gene DOID:2316 brain ischemia ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21695352|REF_RGD_ID:5508764 12114671 S100B S100 calcium binding protein B gene DOID:2366 West Nile fever ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:19790244|REF_RGD_ID:5508797 12114671 S100B S100 calcium binding protein B gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:brain, cerebrospinal fluid PMID:12076997|REF_RGD_ID:5508822 12114671 S100B S100 calcium binding protein B gene DOID:3213 demyelinating disease ISO RGD:3615 D RGD:9068941 20200609 RGD PMID:21885671|REF_RGD_ID:5508823 12114671 S100B S100 calcium binding protein B gene DOID:3312 bipolar disorder ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:15581912|REF_RGD_ID:5508853 12114671 S100B S100 calcium binding protein B gene DOID:3312 bipolar disorder ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15581912|PMID:16476148 12114671 S100B S100 calcium binding protein B gene DOID:4724 brain edema ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19147496|REF_RGD_ID:5508832 12114671 S100B S100 calcium binding protein B gene DOID:4724 brain edema ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19027832 12114671 S100B S100 calcium binding protein B gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:737117 D RGD:9068941 20220708 RGD protein:increased expression:intrahepatic bile duct (human) PMID:30377796|REF_RGD_ID:152998946 12114671 S100B S100 calcium binding protein B gene DOID:5154 borna disease ISO RGD:3615 D RGD:9068941 20200609 RGD protein:decreased expression:cerebellum, cerebral cortex PMID:17376896|REF_RGD_ID:5508841 12114671 S100B S100 calcium binding protein B gene DOID:5419 schizophrenia ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19539717|REF_RGD_ID:5508799 12114671 S100B S100 calcium binding protein B gene DOID:5419 schizophrenia susceptibility ISO RGD:737117 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:3' utr, cds:5748C>T, 2757C>G (rs9722, rs1051169) (human) PMID:15670788|REF_RGD_ID:14696780 12114671 S100B S100 calcium binding protein B gene DOID:5844 myocardial infarction ISO RGD:3615 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:left ventricle myocardium, plasma PMID:19910580|REF_RGD_ID:2325647 12114671 S100B S100 calcium binding protein B gene DOID:5844 myocardial infarction ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9788975 12114671 S100B S100 calcium binding protein B gene DOID:630 genetic disease ISO RGD:737117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12114671 S100B S100 calcium binding protein B gene DOID:8869 neuromyelitis optica ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:21371524|REF_RGD_ID:5508767 12114671 S100B S100 calcium binding protein B gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease ISO RGD:737117 D RGD:9068941 20210625 RGD protein:increased expression:serum (human) PMID:27929120|REF_RGD_ID:127284887 12114671 S100B S100 calcium binding protein B gene DOID:9000930 Dental Pulp Exposure ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:brain, astrocyte PMID:20043976|REF_RGD_ID:5508788 12114671 S100B S100 calcium binding protein B gene DOID:9000998 Brain Injuries ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11520488|PMID:21783483 12114671 S100B S100 calcium binding protein B gene DOID:9000998 Brain Injuries severity ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:21976236|REF_RGD_ID:5508761 12114671 S100B S100 calcium binding protein B gene DOID:9001686 Acute Coronary Syndrome ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21663912|REF_RGD_ID:5508825 12114671 S100B S100 calcium binding protein B gene DOID:9002407 Spinal Fractures ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20304889|REF_RGD_ID:5508786 12114671 S100B S100 calcium binding protein B gene DOID:9002676 Cerebral Hemorrhage ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19027832 12114671 S100B S100 calcium binding protein B gene DOID:9002676 Cerebral Hemorrhage disease_progression ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:19505208|REF_RGD_ID:5508801 12114671 S100B S100 calcium binding protein B gene DOID:9003676 Brain Hypoxia-Ischemia severity ISO RGD:737117 D RGD:9068941 20200609 RGD associated with Asphyxia Neonatorum;protein:increased expression:urine PMID:14707571|REF_RGD_ID:5508819 12114671 S100B S100 calcium binding protein B gene DOID:9003676 Brain Hypoxia-Ischemia severity ISO RGD:737117 D RGD:9068941 20221020 RGD protein:increased expression:blood serum (human) PMID:29568675|REF_RGD_ID:155598592 12114671 S100B S100 calcium binding protein B gene DOID:9004009 Reperfusion Injury ISO RGD:3615 D RGD:9068941 20200609 RGD PMID:18840784|REF_RGD_ID:5508834 12114671 S100B S100 calcium binding protein B gene DOID:9004442 Diffuse Brain Injuries ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30076900 12114671 S100B S100 calcium binding protein B gene DOID:9004484 Sepsis ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:19809934|REF_RGD_ID:5508796 12114671 S100B S100 calcium binding protein B gene DOID:9004871 Mercury Poisoning, Nervous System ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30076900 12114671 S100B S100 calcium binding protein B gene DOID:9005372 Inflammation ISO RGD:737117 D RGD:9068941 20200609 RGD associated with Stroke PMID:21034449|REF_RGD_ID:5508779 12114671 S100B S100 calcium binding protein B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3615 D RGD:9068941 20200609 RGD protein:altered expression:hippocampus, astrocyte PMID:18708122|REF_RGD_ID:5508836 12114671 S100B S100 calcium binding protein B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum, cerebral cortex, hippocampus PMID:14583344|REF_RGD_ID:5508821 12114671 S100B S100 calcium binding protein B gene DOID:9006013 Hematoma ISO RGD:3615 D RGD:9068941 20200609 RGD associated with Stroke;protein:increased expression:serum PMID:19147496|REF_RGD_ID:5508832 12114671 S100B S100 calcium binding protein B gene DOID:9006013 Hematoma ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19027832 12114671 S100B S100 calcium binding protein B gene DOID:9006024 Hypotension ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17944636|REF_RGD_ID:5508837 12114671 S100B S100 calcium binding protein B gene DOID:9006205 Animal Disease Models ISO RGD:737117 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:12888777|PMID:34792689 12114671 S100B S100 calcium binding protein B gene DOID:9007096 Stroke severity ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17706250|REF_RGD_ID:5508838 12114671 S100B S100 calcium binding protein B gene DOID:9007096 Stroke severity ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:19959621|REF_RGD_ID:5508793 12114671 S100B S100 calcium binding protein B gene DOID:9007502 Brain Neoplasms ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 12114671 S100B S100 calcium binding protein B gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3615 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium PMID:21663912|REF_RGD_ID:5508825 12114671 S100B S100 calcium binding protein B gene DOID:9008763 Femoral Fractures ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:14504167|REF_RGD_ID:5509053 12114671 S100B S100 calcium binding protein B gene DOID:9009161 Attention Deficit and Disruptive Behavior Disorders ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25451971 12114671 S100B S100 calcium binding protein B gene DOID:936 brain disease disease_progression ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:20847541|REF_RGD_ID:5508782 12114671 S100B S100 calcium binding protein B gene DOID:9470 bacterial meningitis ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:15105355|REF_RGD_ID:5508818 12114717 RASSF4 Ras association domain family member 4 gene DOID:630 genetic disease ISO RGD:1317179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12114717 RASSF4 Ras association domain family member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12114736 SLC22A23 solute carrier family 22 member 23 gene DOID:630 genetic disease ISO RGD:1347503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12114736 SLC22A23 solute carrier family 22 member 23 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12114751 ICE2 interactor of little elongation complex ELL subunit 2 gene DOID:1826 epilepsy ISO RGD:1351476 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12114751 ICE2 interactor of little elongation complex ELL subunit 2 gene DOID:2717 Bloom syndrome ISO RGD:1351476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12114751 ICE2 interactor of little elongation complex ELL subunit 2 gene DOID:630 genetic disease ISO RGD:1351476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12114751 ICE2 interactor of little elongation complex ELL subunit 2 gene DOID:9004890 Paranoid Disorders ISO RGD:1351476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 12114751 ICE2 interactor of little elongation complex ELL subunit 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1351476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 12114751 ICE2 interactor of little elongation complex ELL subunit 2 gene DOID:9256 colorectal cancer ISO RGD:1351476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12114783 ATPAF1 ATP synthase mitochondrial F1 complex assembly factor 1 gene DOID:630 genetic disease ISO RGD:1313436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12114783 ATPAF1 ATP synthase mitochondrial F1 complex assembly factor 1 gene DOID:9970 obesity ISO RGD:1313436 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12114796 C18H11orf80 chromosome 18 C11orf80 homolog gene DOID:1059 intellectual disability ISO RGD:1605958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12114796 C18H11orf80 chromosome 18 C11orf80 homolog gene DOID:630 genetic disease ISO RGD:1605958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12114796 C18H11orf80 chromosome 18 C11orf80 homolog gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1605958 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12114796 C18H11orf80 chromosome 18 C11orf80 homolog gene DOID:9007235 Hydatidiform Mole, Recurrent, 4 ISO RGD:1605958 D RGD:7240710 20190619 OMIM 12114796 C18H11orf80 chromosome 18 C11orf80 homolog gene DOID:9007235 Hydatidiform Mole, Recurrent, 4 ISO RGD:1605958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4 PMID:25741868|PMID:30388401 12114796 C18H11orf80 chromosome 18 C11orf80 homolog gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1605958 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12114816 TCF7L1 transcription factor 7 like 1 gene DOID:630 genetic disease ISO RGD:1323251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12114816 TCF7L1 transcription factor 7 like 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1323251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23811263 12114832 MKNK2 MAPK interacting serine/threonine kinase 2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1313930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12114832 MKNK2 MAPK interacting serine/threonine kinase 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:1313930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12114832 MKNK2 MAPK interacting serine/threonine kinase 2 gene DOID:630 genetic disease ISO RGD:1313930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12114832 MKNK2 MAPK interacting serine/threonine kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12114852 LRRC19 leucine rich repeat containing 19 gene DOID:630 genetic disease ISO RGD:1350270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12114876 SLC10A4 solute carrier family 10 member 4 gene DOID:630 genetic disease ISO RGD:1319926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115014 PSMD7 proteasome 26S subunit, non-ATPase 7 gene DOID:630 genetic disease ISO RGD:1315780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115025 NENF neudesin neurotrophic factor gene DOID:1540 parathyroid carcinoma ISO RGD:1603399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12115025 NENF neudesin neurotrophic factor gene DOID:630 genetic disease ISO RGD:1603399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115025 NENF neudesin neurotrophic factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12115031 TADA1 transcriptional adaptor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12115031 TADA1 transcriptional adaptor 1 gene DOID:630 genetic disease ISO RGD:1606748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115031 TADA1 transcriptional adaptor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12115043 NANS N-acetylneuraminate synthase gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1323660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 12115043 NANS N-acetylneuraminate synthase gene DOID:0080006 bone development disease ISO RGD:1323660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27213289 12115043 NANS N-acetylneuraminate synthase gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1323660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 12115043 NANS N-acetylneuraminate synthase gene DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type ISO RGD:1323660 D RGD:7240710 20190315 OMIM 12115043 NANS N-acetylneuraminate synthase gene DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type ISO RGD:1323660 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type PMID:15726110|PMID:25741868|PMID:27213289|PMID:28492532|PMID:34163424 12115043 NANS N-acetylneuraminate synthase gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1323660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 12115043 NANS N-acetylneuraminate synthase gene DOID:1059 intellectual disability ISO RGD:1323660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12115043 NANS N-acetylneuraminate synthase gene DOID:12712 nephronophthisis ISO RGD:1323660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 12115043 NANS N-acetylneuraminate synthase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1323660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 12115043 NANS N-acetylneuraminate synthase gene DOID:630 genetic disease ISO RGD:1323660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12115043 NANS N-acetylneuraminate synthase gene DOID:9001793 Generalized Epilepsy ISO RGD:1323660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 12115043 NANS N-acetylneuraminate synthase gene DOID:9008086 Developmental Disabilities ISO RGD:1323660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27213289 12115053 DBX1 developing brain homeobox 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1605302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12115053 DBX1 developing brain homeobox 1 gene DOID:1059 intellectual disability ISO RGD:1605302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12115053 DBX1 developing brain homeobox 1 gene DOID:630 genetic disease ISO RGD:1605302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115059 ZSWIM3 zinc finger SWIM-type containing 3 gene DOID:2234 focal epilepsy ISO RGD:1320317 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12115059 ZSWIM3 zinc finger SWIM-type containing 3 gene DOID:630 genetic disease ISO RGD:1320317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115059 ZSWIM3 zinc finger SWIM-type containing 3 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1320317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12115078 WNT2 Wnt family member 2 gene DOID:10283 prostate cancer ISO RGD:736431 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:14517837|REF_RGD_ID:727214 12115078 WNT2 Wnt family member 2 gene DOID:11832 visual epilepsy ISO RGD:621346 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:14625142|REF_RGD_ID:2326231 12115078 WNT2 Wnt family member 2 gene DOID:12849 autistic disorder ISO RGD:736431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11449391|PMID:19895723 12115078 WNT2 Wnt family member 2 gene DOID:1612 breast cancer ISO RGD:736431 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:15736421|REF_RGD_ID:2291874 12115078 WNT2 Wnt family member 2 gene DOID:2871 endometrial carcinoma ISO RGD:736431 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium PMID:9099960|REF_RGD_ID:2291875 12115078 WNT2 Wnt family member 2 gene DOID:3459 breast carcinoma disease_progression ISO RGD:736431 D RGD:9068941 20200609 RGD DNA:amplification:breast PMID:7903963|REF_RGD_ID:2291879 12115078 WNT2 Wnt family member 2 gene DOID:3996 urinary system cancer ISO RGD:736431 D RGD:9068941 20200609 RGD DNA:amplification PMID:8064891|REF_RGD_ID:2291877 12115078 WNT2 Wnt family member 2 gene DOID:4450 renal cell carcinoma ISO RGD:736431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:28492532 12115078 WNT2 Wnt family member 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12115078 WNT2 Wnt family member 2 gene DOID:630 genetic disease ISO RGD:736431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115078 WNT2 Wnt family member 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:736431 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:SNP: :rs4730775(human) PMID:28328801|REF_RGD_ID:14402040 12115078 WNT2 Wnt family member 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:736431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 12115078 WNT2 Wnt family member 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736431 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:8065359|PMID:9419423|REF_RGD_ID:2298848|REF_RGD_ID:2298863 12115078 WNT2 Wnt family member 2 gene DOID:9006947 Fibroadenoma ISO RGD:736431 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:8168088|REF_RGD_ID:2291878 12115078 WNT2 Wnt family member 2 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:736431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:28492532 12115090 DEFB110 defensin beta 110 gene DOID:630 genetic disease ISO RGD:1348391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115100 JAGN1 jagunal homolog 1 gene DOID:0050590 severe congenital neutropenia ISO RGD:1342770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe congenital neutropenia PMID:25129144|PMID:25741868|PMID:25851723|PMID:28492532|PMID:30044346|PMID:31031743|PMID:32419428|PMID:32888943|PMID:33206996|PMID:33718801 12115100 JAGN1 jagunal homolog 1 gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1342770 D RGD:7240710 20180130 OMIM 12115100 JAGN1 jagunal homolog 1 gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1342770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:17576681|PMID:25129144|PMID:25741868|PMID:25851723|PMID:28492532|PMID:30044346|PMID:31031743|PMID:32419428|PMID:32888943|PMID:33206996|PMID:33718801|PMID:9536098 12115100 JAGN1 jagunal homolog 1 gene DOID:1227 neutropenia ISO RGD:1342770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25129144|PMID:25129145 12115100 JAGN1 jagunal homolog 1 gene DOID:2843 long QT syndrome ISO RGD:1342770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12115100 JAGN1 jagunal homolog 1 gene DOID:630 genetic disease ISO RGD:1342770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12115100 JAGN1 jagunal homolog 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12115100 JAGN1 jagunal homolog 1 gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1342770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 12115100 JAGN1 jagunal homolog 1 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1342770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12115106 TYR tyrosinase gene DOID:0050632 oculocutaneous albinism ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:10094567|PMID:10766867|PMID:10823941|PMID:10987646|PMID:11284711|PMID:11295837|PMID:11829136|PMID:12753405|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:15635296|PMID:15937636|PMID:16056219|PMID:16098056|PMID:16170149|PMID:1642278|PMID:17952075|PMID:17999355|PMID:1820207|PMID:18326704|PMID:1832718|PMID:18463683|PMID:18488027|PMID:18488028|PMID:18821858|PMID:18925668|PMID:1899321|PMID:1903591|PMID:1905879|PMID:19060277|PMID:19208379|PMID:19320745|PMID:1943686|PMID:19533789|PMID:19626598|PMID:1970634|PMID:19865097|PMID:20301345|PMID:20806075|PMID:20861488|PMID:21541274|PMID:21906913|PMID:22042571|PMID:22294196|PMID:22734612|PMID:23085273|PMID:23324268|PMID:2342539|PMID:23504663|PMID:24033266|PMID:24123366|PMID:24721949|PMID:25216246|PMID:25333069|PMID:25741868|PMID:25919014|PMID:26165494|PMID:26167114|PMID:26818737|PMID:27537549|PMID:27734839|PMID:27775880|PMID:27829221|PMID:27887888|PMID:27959697|PMID:28041643|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:28976636|PMID:29345414|PMID:30311386|PMID:30472657|PMID:31077556|PMID:31199599|PMID:31719542|PMID:32411182|PMID:32581362|PMID:33223529|PMID:33800529|PMID:34008892|PMID:35803923|PMID:5516239|PMID:666627|PMID:7704033|PMID:7849740|PMID:7902671|PMID:7955413|PMID:8026428|PMID:8128955|PMID:8217557|PMID:8430701|PMID:8434585|PMID:9158138|PMID:9163730|PMID:9242509|PMID:9259202 12115106 TYR tyrosinase gene DOID:0050632 oculocutaneous albinism treatment ISO RGD:11466 D RGD:9068941 20200609 RGD PMID:15250938|REF_RGD_ID:8694345 12115106 TYR tyrosinase gene DOID:0050633 ocular albinism ISO RGD:1346000 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Ocular albinism PMID:13680365|PMID:15381243|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19626598|PMID:19865097|PMID:20861488|PMID:22294196|PMID:24033266|PMID:24721949|PMID:25741868|PMID:25919014|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28629449|PMID:29345414|PMID:33223529|PMID:34008892|PMID:9163730 12115106 TYR tyrosinase gene DOID:0070094 oculocutaneous albinism type IA ISO RGD:1346000 D RGD:7240710 20180130 OMIM 12115106 TYR tyrosinase gene DOID:0070094 oculocutaneous albinism type IA ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism type 1 | ClinVar Annotator: match by term: Tyrosinase-negative oculocutaneous albinism PMID:10766867|PMID:10823941|PMID:10987646|PMID:11284711|PMID:11295837|PMID:11829136|PMID:12753405|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:15635296|PMID:15937636|PMID:16056219|PMID:16098056|PMID:16170149|PMID:16199547|PMID:16417222|PMID:1642278|PMID:16517127|PMID:16570240|PMID:1676041|PMID:16907708|PMID:1711223|PMID:17952075|PMID:17999355|PMID:1820207|PMID:18326704|PMID:1832718|PMID:18463683|PMID:18488027|PMID:18488028|PMID:18701257|PMID:18821858|PMID:18925668|PMID:1899321|PMID:1903591|PMID:1905879|PMID:19060277|PMID:19208379|PMID:19320745|PMID:1943686|PMID:19533789|PMID:19626598|PMID:1970634|PMID:19865097|PMID:20301345|PMID:20806075|PMID:20861488|PMID:20861851|PMID:2113511|PMID:21458243|PMID:21541274|PMID:21906913|PMID:21985232|PMID:22042571|PMID:22294196|PMID:22734612|PMID:22981120|PMID:23085273|PMID:23242301|PMID:23324268|PMID:2342539|PMID:23504663|PMID:23882993|PMID:24033266|PMID:24123366|PMID:24461674|PMID:24721949|PMID:2511845|PMID:25216246|PMID:25326635|PMID:25333069|PMID:25455140|PMID:25703744|PMID:25741868|PMID:25919014|PMID:26165494|PMID:26167114|PMID:26818737|PMID:27537549|PMID:27734839|PMID:27775880|PMID:27829221|PMID:27887888|PMID:27959697|PMID:28041643|PMID:28112372|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:28976636|PMID:2903492|PMID:29345414|PMID:30311386|PMID:30472657|PMID:30996339|PMID:31077556|PMID:31199599|PMID:31229681|PMID:31719542|PMID:32115698|PMID:32411182|PMID:32581362|PMID:33223529|PMID:33800529|PMID:34008892|PMID:35803923|PMID:5516239|PMID:666627|PMID:7704033|PMID:7849740|PMID:7902671|PMID:7955413|PMID:8026428|PMID:8128955|PMID:8217557|PMID:8430701|PMID:8434585|PMID:8477259|PMID:9158138|PMID:9163730|PMID:9242509|PMID:9259202 12115106 TYR tyrosinase gene DOID:0070094 oculocutaneous albinism type IA treatment ISO RGD:1346000 D RGD:9068941 20200609 RGD PMID:19436266|REF_RGD_ID:8694335 12115106 TYR tyrosinase gene DOID:0070095 oculocutaneous albinism type IB ISO RGD:1346000 D RGD:7240710 20180130 OMIM 12115106 TYR tyrosinase gene DOID:0070095 oculocutaneous albinism type IB ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism type 1B | ClinVar Annotator: match by term: Yellow albinism PMID:10766867|PMID:10823941|PMID:10987646|PMID:11284711|PMID:11295837|PMID:12753405|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:15937636|PMID:16098056|PMID:16199547|PMID:16417222|PMID:1642278|PMID:1676041|PMID:17952075|PMID:1820207|PMID:18326704|PMID:1832718|PMID:18463683|PMID:18488027|PMID:18488028|PMID:18821858|PMID:18925668|PMID:1899321|PMID:1903591|PMID:1905879|PMID:19060277|PMID:19208379|PMID:19320745|PMID:1943686|PMID:19533789|PMID:19626598|PMID:1970634|PMID:19865097|PMID:20301345|PMID:20861488|PMID:2113511|PMID:21541274|PMID:21906913|PMID:21985232|PMID:22042571|PMID:22294196|PMID:22734612|PMID:23085273|PMID:23242301|PMID:2342539|PMID:23504663|PMID:23882993|PMID:24033266|PMID:24123366|PMID:24721949|PMID:25216246|PMID:25333069|PMID:25703744|PMID:25741868|PMID:25919014|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27887888|PMID:28041643|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:28976636|PMID:29345414|PMID:30311386|PMID:30472657|PMID:31077556|PMID:31719542|PMID:32411182|PMID:32581362|PMID:33223529|PMID:33800529|PMID:34008892|PMID:35803923|PMID:5516239|PMID:666627|PMID:7704033|PMID:7849740|PMID:7955413|PMID:8026428|PMID:8128955|PMID:8430701|PMID:8434585|PMID:9158138|PMID:9163730|PMID:9242509|PMID:9259202 12115106 TYR tyrosinase gene DOID:0090100 ocular albinism with sensorineural deafness ISO RGD:1346000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness PMID:11284711|PMID:13680365|PMID:1429711|PMID:15146472|PMID:1642278|PMID:18463683|PMID:18821858|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19320745|PMID:19865097|PMID:20861488|PMID:21906913|PMID:22734612|PMID:24033266|PMID:24123366|PMID:25216246|PMID:25333069|PMID:25741868|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27887888|PMID:28266639|PMID:28378818|PMID:28492532|PMID:28667292|PMID:28976636|PMID:30311386|PMID:31077556|PMID:31719542|PMID:32411182|PMID:5516239|PMID:7704033|PMID:7955413|PMID:9242509 12115106 TYR tyrosinase gene DOID:1059 intellectual disability ISO RGD:1346000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12115106 TYR tyrosinase gene DOID:11211 buphthalmos ISO RGD:11466 D RGD:9068941 20220825 MouseDO OMIM:231300 12115106 TYR tyrosinase gene DOID:11830 myopia ISO RGD:1346000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopia PMID:13680365|PMID:15381243|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19626598|PMID:19865097|PMID:20861488|PMID:22294196|PMID:24033266|PMID:24721949|PMID:25741868|PMID:25919014|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28976636|PMID:29345414|PMID:31077556|PMID:33223529|PMID:34008892|PMID:7704033|PMID:7955413|PMID:9163730 12115106 TYR tyrosinase gene DOID:12306 vitiligo ISO RGD:1346000 D RGD:9068941 20200609 RGD PMID:22834951|REF_RGD_ID:8694387 12115106 TYR tyrosinase gene DOID:12306 vitiligo severity ISO RGD:1346000 D RGD:9068941 20200609 RGD PMID:8697641|REF_RGD_ID:8694409 12115106 TYR tyrosinase gene DOID:1612 breast cancer ISO RGD:1346000 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:666627|PMID:7704033|PMID:9158138 12115106 TYR tyrosinase gene DOID:1612 breast cancer ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:30472657|PMID:35803923|PMID:666627|PMID:7704033|PMID:9158138 12115106 TYR tyrosinase gene DOID:1909 melanoma ISO RGD:1346000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488027|PMID:19578364|PMID:21559390|PMID:26640592 12115106 TYR tyrosinase gene DOID:1909 melanoma ISO RGD:1346000 D RGD:9068941 20200609 RGD PMID:22834951|REF_RGD_ID:8694387 12115106 TYR tyrosinase gene DOID:1909 melanoma disease_progression ISO RGD:1346000 D RGD:9068941 20200609 RGD PMID:8609659|REF_RGD_ID:8694384 12115106 TYR tyrosinase gene DOID:2513 basal cell carcinoma ISO RGD:1346000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488027 12115106 TYR tyrosinase gene DOID:2615 papilloma treatment ISO RGD:11466 D RGD:9068941 20200609 RGD PMID:15007389|REF_RGD_ID:8694346 12115106 TYR tyrosinase gene DOID:630 genetic disease ISO RGD:1346000 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10987646|PMID:11284711|PMID:12753405|PMID:13680365|PMID:1429711|PMID:15146472|PMID:16417222|PMID:1642278|PMID:1676041|PMID:18326704|PMID:1832718|PMID:18463683|PMID:18821858|PMID:18925668|PMID:1899321|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19320745|PMID:1943686|PMID:19626598|PMID:1970634|PMID:19865097|PMID:20861488|PMID:21906913|PMID:21985232|PMID:22294196|PMID:22734612|PMID:23242301|PMID:2342539|PMID:23504663|PMID:23882993|PMID:24033266|PMID:24123366|PMID:2511845|PMID:25216246|PMID:25326635|PMID:25333069|PMID:25741868|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27829221|PMID:27887888|PMID:28041643|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28667292|PMID:28976636|PMID:29345414|PMID:30311386|PMID:31719542|PMID:32411182|PMID:5516239|PMID:7849740|PMID:8128955|PMID:8434585|PMID:9242509 12115106 TYR tyrosinase gene DOID:6846 familial melanoma ISO RGD:1346000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:666627|PMID:7704033|PMID:9158138 12115106 TYR tyrosinase gene DOID:6846 familial melanoma ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:30472657|PMID:35803923|PMID:666627|PMID:7704033|PMID:9158138 12115106 TYR tyrosinase gene DOID:8465 retinoschisis treatment ISO RGD:1346000 D RGD:9068941 20200609 RGD PMID:20876567|REF_RGD_ID:8694343 12115106 TYR tyrosinase gene DOID:8923 skin melanoma susceptibility ISO RGD:1346000 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R402Q(human) PMID:21906913|REF_RGD_ID:8694390 12115106 TYR tyrosinase gene DOID:9000307 Presbycusis onset ISO RGD:11466 D RGD:9068941 20200609 RGD PMID:19141317|REF_RGD_ID:8694327 12115106 TYR tyrosinase gene DOID:9000307 Presbycusis treatment ISO RGD:11466 D RGD:9068941 20200609 RGD associated with Albinism; PMID:19843244|REF_RGD_ID:8694324 12115106 TYR tyrosinase gene DOID:9000570 Skin/Hair/Eye Pigmentation, Variation In, 3 ISO RGD:1346000 D RGD:7240710 20221207 OMIM 12115106 TYR tyrosinase gene DOID:9000570 Skin/Hair/Eye Pigmentation, Variation In, 3 ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 3, FRECKLING | ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 3 PMID:10766867|PMID:10823941|PMID:11284711|PMID:11295837|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:1642278|PMID:17952075|PMID:17999355|PMID:1820207|PMID:18326704|PMID:18463683|PMID:18488027|PMID:18488028|PMID:18821858|PMID:18925668|PMID:1899321|PMID:1903591|PMID:1905879|PMID:19060277|PMID:19208379|PMID:19320745|PMID:1943686|PMID:19533789|PMID:19626598|PMID:19865097|PMID:20301345|PMID:20861488|PMID:21541274|PMID:21906913|PMID:22294196|PMID:22734612|PMID:23085273|PMID:2342539|PMID:23504663|PMID:24033266|PMID:24123366|PMID:24721949|PMID:25216246|PMID:25333069|PMID:25741868|PMID:25919014|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27887888|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:28976636|PMID:29345414|PMID:30311386|PMID:30472657|PMID:31077556|PMID:31719542|PMID:32411182|PMID:33223529|PMID:34008892|PMID:35803923|PMID:5516239|PMID:666627|PMID:7704033|PMID:7955413|PMID:8128955|PMID:8430701|PMID:8434585|PMID:9158138|PMID:9163730|PMID:9242509|PMID:9259202 12115106 TYR tyrosinase gene DOID:9000965 Neoplasm Metastasis no_association ISO RGD:1346000 D RGD:9068941 20200609 RGD associated with melanoma; PMID:11092039|REF_RGD_ID:8694395 12115106 TYR tyrosinase gene DOID:9001044 Choroidal Neovascularization ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Choroidal neovascularization PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28378818|PMID:28492532|PMID:28976636|PMID:30472657|PMID:31077556|PMID:35803923|PMID:666627|PMID:7704033|PMID:7955413|PMID:9158138 12115106 TYR tyrosinase gene DOID:9001386 Albinism ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Albinism PMID:10766867|PMID:10987646|PMID:12753405|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:16517127|PMID:17952075|PMID:1820207|PMID:18326704|PMID:1832718|PMID:18463683|PMID:18488027|PMID:18488028|PMID:18821858|PMID:18925668|PMID:1899321|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19533789|PMID:19626598|PMID:1970634|PMID:19865097|PMID:20301345|PMID:20861488|PMID:21541274|PMID:22294196|PMID:23504663|PMID:24033266|PMID:24721949|PMID:25216246|PMID:25741868|PMID:25919014|PMID:27734839|PMID:28041643|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28976636|PMID:2903492|PMID:29345414|PMID:30472657|PMID:31077556|PMID:33223529|PMID:34008892|PMID:35803923|PMID:666627|PMID:7704033|PMID:7849740|PMID:7955413|PMID:8434585|PMID:9158138|PMID:9163730 12115106 TYR tyrosinase gene DOID:9001386 Albinism treatment ISO RGD:11466 D RGD:9068941 20200609 RGD PMID:2112453|REF_RGD_ID:8694355 12115106 TYR tyrosinase gene DOID:9001923 Foveal Hypoplasia ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Foveal hypoplasia PMID:10766867|PMID:11295837|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:27734839|PMID:28378818|PMID:28492532|PMID:28976636|PMID:29345414|PMID:30472657|PMID:31077556|PMID:35803923|PMID:666627|PMID:7704033|PMID:7955413|PMID:9158138 12115106 TYR tyrosinase gene DOID:9001957 Keratosis Palmoplantaris with Periodontopathia and Onychogryposis ISO RGD:1346000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Haim-Munk syndrome PMID:28492532 12115106 TYR tyrosinase gene DOID:9003119 Nonsyndromic Oculocutaneous Albinism ISO RGD:1346000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism PMID:10987646|PMID:11284711|PMID:11829136|PMID:13680365|PMID:1429711|PMID:15381243|PMID:15635296|PMID:15937636|PMID:16056219|PMID:16098056|PMID:1642278|PMID:16907708|PMID:18326704|PMID:18463683|PMID:1899321|PMID:1903591|PMID:19060277|PMID:1943686|PMID:19626598|PMID:19865097|PMID:20806075|PMID:20861488|PMID:20861851|PMID:21906913|PMID:21985232|PMID:22042571|PMID:22294196|PMID:22734612|PMID:23324268|PMID:2342539|PMID:23504663|PMID:24033266|PMID:24123366|PMID:24721949|PMID:25216246|PMID:25326635|PMID:25333069|PMID:25741868|PMID:25919014|PMID:26165494|PMID:27734839|PMID:27775880|PMID:27829221|PMID:28112372|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:29345414|PMID:31077556|PMID:31199599|PMID:32115698|PMID:32581362|PMID:33223529|PMID:33800529|PMID:34008892|PMID:7902671|PMID:8026428|PMID:8128955|PMID:9163730|PMID:9242509 12115106 TYR tyrosinase gene DOID:9004464 Skin Neoplasms ISO RGD:1346000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488027 12115106 TYR tyrosinase gene DOID:9004538 Hearing Loss ISO RGD:1346000 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:11284711|PMID:13680365|PMID:1429711|PMID:15146472|PMID:1642278|PMID:18463683|PMID:18821858|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19320745|PMID:19865097|PMID:20861488|PMID:21906913|PMID:22734612|PMID:24033266|PMID:24123366|PMID:25216246|PMID:25333069|PMID:25741868|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27887888|PMID:28266639|PMID:28492532|PMID:28667292|PMID:30311386|PMID:31719542|PMID:32411182|PMID:5516239|PMID:9242509 12115106 TYR tyrosinase gene DOID:9005389 Oculocutaneous Albinism Type I, Temperature-Sensitive ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:1832718|PMID:18488027|PMID:18488028|PMID:18925668|PMID:1900307|PMID:1900309|PMID:19208379|PMID:1943686|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:2567165|PMID:25741868|PMID:28492532|PMID:30472657|PMID:31077556|PMID:35803923|PMID:666627|PMID:7704033|PMID:9158138 12115106 TYR tyrosinase gene DOID:9008296 Eye Abnormalities ISO RGD:1346000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:16098056|PMID:25216246|PMID:28041643|PMID:28266639|PMID:28492532|PMID:31077556|PMID:33800529|PMID:8026428 12115106 TYR tyrosinase gene DOID:9650 pathologic nystagmus ISO RGD:1346000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Horizontal nystagmus | ClinVar Annotator: match by term: Nystagmus PMID:13680365|PMID:15381243|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19626598|PMID:19865097|PMID:20861488|PMID:22294196|PMID:24033266|PMID:24721949|PMID:25741868|PMID:25919014|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28976636|PMID:29345414|PMID:31077556|PMID:33223529|PMID:34008892|PMID:7704033|PMID:7955413|PMID:9163730 12115115 EPS15 epidermal growth factor receptor pathway substrate 15 gene DOID:630 genetic disease ISO RGD:1313642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115132 NCOA1 nuclear receptor coactivator 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1319167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 12115132 NCOA1 nuclear receptor coactivator 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1319167 D RGD:9068941 20200609 RGD PMID:14871982|REF_RGD_ID:2293530 12115132 NCOA1 nuclear receptor coactivator 1 gene DOID:11633 thyroid hormone resistance syndrome ISO RGD:1319168 D RGD:9068941 20220825 MouseDO OMIM:188570 | OMIM:274300 12115132 NCOA1 nuclear receptor coactivator 1 gene DOID:1459 hypothyroidism ISO RGD:1309046 D RGD:9068941 20200609 RGD mRNA:altered expression:brain PMID:11850121|REF_RGD_ID:2306463 12115132 NCOA1 nuclear receptor coactivator 1 gene DOID:2871 endometrial carcinoma ISO RGD:1319167 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:14751175|REF_RGD_ID:2298984 12115132 NCOA1 nuclear receptor coactivator 1 gene DOID:289 endometriosis ISO RGD:1319167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12115132 NCOA1 nuclear receptor coactivator 1 gene DOID:3459 breast carcinoma severity ISO RGD:1319167 D RGD:9068941 20200609 RGD PMID:17902051|REF_RGD_ID:2293529 12115132 NCOA1 nuclear receptor coactivator 1 gene DOID:630 genetic disease ISO RGD:1319167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115132 NCOA1 nuclear receptor coactivator 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1319167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21080969 12115132 NCOA1 nuclear receptor coactivator 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12237244 12115132 NCOA1 nuclear receptor coactivator 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1319167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21080969 12115132 NCOA1 nuclear receptor coactivator 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1319167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20332317 12115132 NCOA1 nuclear receptor coactivator 1 gene DOID:9970 obesity ISO RGD:1319168 D RGD:9068941 20220825 MouseDO OMIM:601665 12115173 HECW1 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12115173 HECW1 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1352203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115207 DNASE1L3 deoxyribonuclease 1 like 3 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:733865 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 12115207 DNASE1L3 deoxyribonuclease 1 like 3 gene DOID:630 genetic disease ISO RGD:733865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12115207 DNASE1L3 deoxyribonuclease 1 like 3 gene DOID:684 hepatocellular carcinoma ISO RGD:733865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12115207 DNASE1L3 deoxyribonuclease 1 like 3 gene DOID:7148 rheumatoid arthritis ISO RGD:733865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596|PMID:30224649 12115207 DNASE1L3 deoxyribonuclease 1 like 3 gene DOID:9003353 Systemic Lupus Erythematosus 16 ISO RGD:733865 D RGD:7240710 20180130 OMIM 12115207 DNASE1L3 deoxyribonuclease 1 like 3 gene DOID:9003353 Systemic Lupus Erythematosus 16 ISO RGD:733865 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus 16 PMID:21692081|PMID:22019780|PMID:24206041|PMID:25741868|PMID:28492532|PMID:30707351 12115207 DNASE1L3 deoxyribonuclease 1 like 3 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:733865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 12115207 DNASE1L3 deoxyribonuclease 1 like 3 gene DOID:9005172 Lung Neoplasms ISO RGD:733865 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21720004 12115207 DNASE1L3 deoxyribonuclease 1 like 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:733865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22019780 12115219 TMX4 thioredoxin related transmembrane protein 4 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1603023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 12115219 TMX4 thioredoxin related transmembrane protein 4 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1603023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 12115219 TMX4 thioredoxin related transmembrane protein 4 gene DOID:630 genetic disease ISO RGD:1603023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115219 TMX4 thioredoxin related transmembrane protein 4 gene DOID:9245 Alagille syndrome ISO RGD:1603023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532|PMID:32733715 12115231 CFAP251 cilia and flagella associated protein 251 gene DOID:0070165 spermatogenic failure 18 ISO RGD:1606715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 18 PMID:30122540 12115231 CFAP251 cilia and flagella associated protein 251 gene DOID:0111915 spermatogenic failure 33 ISO RGD:1606715 D RGD:7240710 20190315 OMIM 12115231 CFAP251 cilia and flagella associated protein 251 gene DOID:0111915 spermatogenic failure 33 ISO RGD:1606715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 33 PMID:30122540|PMID:30122541 12115231 CFAP251 cilia and flagella associated protein 251 gene DOID:630 genetic disease ISO RGD:1606715 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115231 CFAP251 cilia and flagella associated protein 251 gene DOID:9001513 Asthenozoospermia ISO RGD:1606715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: asthenozoospermia PMID:30122541 12115257 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1320598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:25741868 12115257 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:0110347 osteogenesis imperfecta type 15 ISO RGD:1320598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 15 PMID:25741868 12115257 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1320598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28492532|PMID:31680123 12115257 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:1389 polyneuropathy ISO RGD:1320598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:25741868 12115257 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:2747 glycogen storage disease ISO RGD:1320598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease PMID:15452297|PMID:16199547|PMID:17662246|PMID:19813197|PMID:20058079|PMID:22305237|PMID:23218673|PMID:23352160|PMID:24033266|PMID:25489661|PMID:25741868|PMID:26166723|PMID:26886200|PMID:28492532|PMID:28507268|PMID:29379554|PMID:30569318 12115257 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:2750 glycogen storage disease IV ISO RGD:1320598 D RGD:7240710 20180130 OMIM 12115257 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:2750 glycogen storage disease IV ISO RGD:1320598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type IV PMID:10384399|PMID:10545044|PMID:10762170|PMID:11949934|PMID:12874416|PMID:12913206|PMID:15019703|PMID:15452297|PMID:15520786|PMID:16199547|PMID:16278887|PMID:16528737|PMID:16874838|PMID:17576681|PMID:17662246|PMID:17915577|PMID:17994551|PMID:18230843|PMID:18661138|PMID:19438752|PMID:19763152|PMID:19813197|PMID:20058079|PMID:20301758|PMID:20307669|PMID:20479904|PMID:20655781|PMID:21075835|PMID:21917543|PMID:22106711|PMID:22305237|PMID:22406018|PMID:22899091|PMID:23034915|PMID:23218673|PMID:23266647|PMID:23352160|PMID:23607684|PMID:24033266|PMID:24082139|PMID:24248152|PMID:25133958|PMID:25356970|PMID:25489661|PMID:25525159|PMID:25544507|PMID:25640679|PMID:25665141|PMID:25728520|PMID:25741868|PMID:26147564|PMID:26166723|PMID:26199317|PMID:26385640|PMID:26670585|PMID:26752647|PMID:26789422|PMID:26886200|PMID:27107456|PMID:27243974|PMID:27528516|PMID:27546458|PMID:27747161|PMID:28492532|PMID:28507268|PMID:28716262|PMID:28973083|PMID:29379554|PMID:30228975|PMID:30293248|PMID:30311141|PMID:30345254|PMID:30569318|PMID:31207142|PMID:31209396|PMID:31319225|PMID:31589614|PMID:31680123|PMID:31747834|PMID:31980526|PMID:32455116|PMID:33060286|PMID:33141444|PMID:33332610|PMID:33344388|PMID:33517539|PMID:33782433|PMID:34426522|PMID:34946936|PMID:8247964|PMID:8613547|PMID:9536098|PMID:9851430 12115257 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:1320598 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs2307058 (human) PMID:28355295|REF_RGD_ID:18337291 12115257 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:630 genetic disease ISO RGD:1320598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10762170|PMID:11949934|PMID:20058079|PMID:20301758|PMID:24248152|PMID:25356970|PMID:25728520|PMID:25741868|PMID:26147564|PMID:26199317|PMID:28492532|PMID:33782433|PMID:8613547 12115257 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:9000820 GSD IV, Classic Hepatic ISO RGD:1320598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GSD IV, CLASSIC HEPATIC PMID:10384399|PMID:10762170|PMID:11949934|PMID:15452297|PMID:16199547|PMID:16528737|PMID:17576681|PMID:17662246|PMID:20058079|PMID:20301758|PMID:20655781|PMID:22106711|PMID:22305237|PMID:23034915|PMID:23607684|PMID:24082139|PMID:24248152|PMID:25133958|PMID:25356970|PMID:25525159|PMID:25665141|PMID:25741868|PMID:26147564|PMID:26166723|PMID:26199317|PMID:26385640|PMID:26886200|PMID:27243974|PMID:27546458|PMID:27747161|PMID:28492532|PMID:29379554|PMID:30228975|PMID:31589614|PMID:33060286|PMID:33141444|PMID:33332610|PMID:8613547|PMID:9536098|PMID:9851430 12115257 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:9001038 GSD IV, Neuromuscular Form, Congenital ISO RGD:1320598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GSD IV, NEUROMUSCULAR FORM, CONGENITAL PMID:15019703|PMID:15452297|PMID:16528737|PMID:17576681|PMID:17662246|PMID:17915577|PMID:20058079|PMID:22305237|PMID:25741868|PMID:26199317|PMID:27546458|PMID:28492532|PMID:29379554|PMID:30228975|PMID:31589614|PMID:33060286|PMID:33141444|PMID:8059607|PMID:8613547|PMID:9536098 12115257 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:9001655 GSD IV, Neuromuscular Form, Childhood ISO RGD:1320598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GSD IV, NEUROMUSCULAR FORM, CHILDHOOD PMID:15452297|PMID:20058079|PMID:25525159|PMID:25741868|PMID:26166723|PMID:26886200|PMID:27243974|PMID:28492532|PMID:33332610|PMID:8613547 12115257 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:9006655 GSD IV, Neuromuscular Form, Fatal Perinatal ISO RGD:1320598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gsd IV, neuromuscular form, fatal perinatal PMID:10384399|PMID:15452297|PMID:16199547|PMID:20058079|PMID:28492532|PMID:8247964 12115257 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:9006915 GSD IV, combined hepatic and myopathic ISO RGD:1320598 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IV, combined hepatic and myopathic PMID:10545044|PMID:10762170|PMID:12874416|PMID:15452297|PMID:20301758|PMID:20479904|PMID:25741868|PMID:28492532 12115257 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:9007497 Polyglucosan Body Disease, Adult Form ISO RGD:1320598 D RGD:7240710 20180130 OMIM 12115257 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:9007497 Polyglucosan Body Disease, Adult Form ISO RGD:1320598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adult polyglucosan body disease | ClinVar Annotator: match by term: Adult polyglucosan body neuropathy | ClinVar Annotator: match by term: Polyglucosan body disease, adult form PMID:10545044|PMID:10762170|PMID:11949934|PMID:12874416|PMID:15452297|PMID:16199547|PMID:16528737|PMID:17576681|PMID:17662246|PMID:19813197|PMID:20058079|PMID:20301758|PMID:20479904|PMID:20655781|PMID:22106711|PMID:22305237|PMID:23034915|PMID:23218673|PMID:23266647|PMID:23352160|PMID:23607684|PMID:24033266|PMID:24082139|PMID:24248152|PMID:25133958|PMID:25489661|PMID:25525159|PMID:25665141|PMID:25741868|PMID:26166723|PMID:26199317|PMID:26385640|PMID:26670585|PMID:26789422|PMID:26886200|PMID:27107456|PMID:27243974|PMID:27528516|PMID:27747161|PMID:28492532|PMID:28507268|PMID:28716262|PMID:29379554|PMID:30228975|PMID:30293248|PMID:30569318|PMID:31207142|PMID:31209396|PMID:31319225|PMID:31680123|PMID:31980526|PMID:32455116|PMID:33141444|PMID:33332610|PMID:33782433|PMID:34426522|PMID:34946936|PMID:8613547|PMID:9536098|PMID:9851430 12115257 GBE1 1,4-alpha-glucan branching enzyme 1 gene DOID:9007811 Familial Cirrhosis with Deposition of Abnormal Glycogen ISO RGD:1320598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cirrhosis, familial, with deposition of abnormal glycogen PMID:10384399|PMID:10762170|PMID:11949934|PMID:15019703|PMID:15452297|PMID:16199547|PMID:16528737|PMID:17576681|PMID:17662246|PMID:20058079|PMID:20301758|PMID:20655781|PMID:22106711|PMID:22305237|PMID:23034915|PMID:23607684|PMID:24082139|PMID:24248152|PMID:25133958|PMID:25356970|PMID:25525159|PMID:25665141|PMID:25741868|PMID:26147564|PMID:26166723|PMID:26199317|PMID:26385640|PMID:26886200|PMID:27243974|PMID:27546458|PMID:27747161|PMID:28492532|PMID:29379554|PMID:30228975|PMID:31589614|PMID:33060286|PMID:33141444|PMID:33332610|PMID:8247964|PMID:8613547|PMID:9536098|PMID:9851430 12115277 ELP5 elongator acetyltransferase complex subunit 5 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1606812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12115277 ELP5 elongator acetyltransferase complex subunit 5 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1606812 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12115277 ELP5 elongator acetyltransferase complex subunit 5 gene DOID:1059 intellectual disability ISO RGD:1606812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12115277 ELP5 elongator acetyltransferase complex subunit 5 gene DOID:12177 common variable immunodeficiency ISO RGD:1606812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12115277 ELP5 elongator acetyltransferase complex subunit 5 gene DOID:2729 dyskeratosis congenita ISO RGD:1606812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12115277 ELP5 elongator acetyltransferase complex subunit 5 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1606812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12115277 ELP5 elongator acetyltransferase complex subunit 5 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1606812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12115277 ELP5 elongator acetyltransferase complex subunit 5 gene DOID:630 genetic disease ISO RGD:1606812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115291 KCNJ4 potassium inwardly rectifying channel subfamily J member 4 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:733316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12115291 KCNJ4 potassium inwardly rectifying channel subfamily J member 4 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:733316 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12115291 KCNJ4 potassium inwardly rectifying channel subfamily J member 4 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:733316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12115291 KCNJ4 potassium inwardly rectifying channel subfamily J member 4 gene DOID:10283 prostate cancer ISO RGD:733316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12115291 KCNJ4 potassium inwardly rectifying channel subfamily J member 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:733316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12115291 KCNJ4 potassium inwardly rectifying channel subfamily J member 4 gene DOID:14330 Parkinson's disease ISO RGD:733316 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18619942 12115291 KCNJ4 potassium inwardly rectifying channel subfamily J member 4 gene DOID:3910 lung adenocarcinoma ISO RGD:733316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30512237 12115291 KCNJ4 potassium inwardly rectifying channel subfamily J member 4 gene DOID:630 genetic disease ISO RGD:733316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115291 KCNJ4 potassium inwardly rectifying channel subfamily J member 4 gene DOID:9002955 Nerve Degeneration ISO RGD:733316 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18619942 12115306 CDKN2AIPNL CDKN2A interacting protein N-terminal like gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602992 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12115306 CDKN2AIPNL CDKN2A interacting protein N-terminal like gene DOID:630 genetic disease ISO RGD:1602992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115306 CDKN2AIPNL CDKN2A interacting protein N-terminal like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12115306 CDKN2AIPNL CDKN2A interacting protein N-terminal like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12115306 CDKN2AIPNL CDKN2A interacting protein N-terminal like gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602992 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12115313 TSTD2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1322057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 12115313 TSTD2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1322057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 12115313 TSTD2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1322057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 12115313 TSTD2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1322057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12115313 TSTD2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:12712 nephronophthisis ISO RGD:1322057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 12115313 TSTD2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 12115313 TSTD2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:630 genetic disease ISO RGD:1322057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115313 TSTD2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1322057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 12115330 TBC1D22B TBC1 domain family member 22B gene DOID:630 genetic disease ISO RGD:1353872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115346 GJB3 gap junction protein beta 3 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:1347813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC PMID:19050930|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9843210 12115346 GJB3 gap junction protein beta 3 gene DOID:0050563 nonsyndromic deafness ISO RGD:1347813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Deafness PMID:25741868|PMID:28492532 12115346 GJB3 gap junction protein beta 3 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1347813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:10587579 12115346 GJB3 gap junction protein beta 3 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1347813 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs9118) C>G (human) PMID:27354594|REF_RGD_ID:152177496 12115346 GJB3 gap junction protein beta 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12115346 GJB3 gap junction protein beta 3 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1347813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3 PMID:19050930|PMID:24033266|PMID:25741868|PMID:28492532 12115346 GJB3 gap junction protein beta 3 gene DOID:0110559 autosomal dominant nonsyndromic deafness 2B ISO RGD:1347813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 2b PMID:16077902|PMID:19050930|PMID:21204020|PMID:23638949|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9843210 12115346 GJB3 gap junction protein beta 3 gene DOID:0111195 erythrokeratodermia variabilis et progressiva 1 ISO RGD:1347813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 | ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 PMID:10587579|PMID:10594760|PMID:10798362|PMID:10888284|PMID:11175305|PMID:12019212|PMID:12165562|PMID:12648223|PMID:12702148|PMID:15131355|PMID:17567887|PMID:19050930|PMID:19755382|PMID:20981092|PMID:22617145|PMID:24033266|PMID:24498627|PMID:25262649|PMID:25741868|PMID:26467025|PMID:27068579|PMID:27884173|PMID:28492532|PMID:9843209|PMID:9843210 12115346 GJB3 gap junction protein beta 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1347813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant, with peripheral neuropathy PMID:11309368|PMID:12165562|PMID:15276679|PMID:19050930|PMID:19197336|PMID:19755382|PMID:21204020|PMID:22681493|PMID:24913888|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29044474 12115346 GJB3 gap junction protein beta 3 gene DOID:37 skin disease ISO RGD:1347813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372802 12115346 GJB3 gap junction protein beta 3 gene DOID:3891 placental insufficiency ISO RGD:735535 D RGD:9068941 20200609 RGD PMID:11237463|REF_RGD_ID:12436730 12115346 GJB3 gap junction protein beta 3 gene DOID:4603 epidermolytic hyperkeratosis ISO RGD:1347813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16297190 12115346 GJB3 gap junction protein beta 3 gene DOID:574 peripheral nervous system disease ISO RGD:1347813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11309368 12115346 GJB3 gap junction protein beta 3 gene DOID:630 genetic disease ISO RGD:1347813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 12115346 GJB3 gap junction protein beta 3 gene DOID:9002062 Erythrokeratodermia Variabilis, Autosomal Recessive ISO RGD:1347813 D RGD:9068941 20200609 RGD DNA:missense mutation:CDS:p.L34P (101T>C) (human) PMID:12019212|REF_RGD_ID:12050155 12115346 GJB3 gap junction protein beta 3 gene DOID:9002062 Erythrokeratodermia Variabilis, Autosomal Recessive ISO RGD:1347813 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.V30I (c.G88A) (human) PMID:21564177|REF_RGD_ID:12436733 12115346 GJB3 gap junction protein beta 3 gene DOID:9004538 Hearing Loss ISO RGD:1347813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:11309368|PMID:12165562|PMID:15276679|PMID:19050930|PMID:19197336|PMID:19755382|PMID:21204020|PMID:22681493|PMID:24913888|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29044474 12115346 GJB3 gap junction protein beta 3 gene DOID:9005662 Keratoderma Palmoplantaris Transgrediens ISO RGD:1347813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS PMID:19050930|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9843210 12115346 GJB3 gap junction protein beta 3 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1347813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant 12115346 GJB3 gap junction protein beta 3 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss no_association ISO RGD:1347813 D RGD:9068941 20200609 RGD DNA:missense mutation, SNPs:exon:p.R32W (94C>T), C357C>T, 798C>T (human) PMID:15276679|REF_RGD_ID:12050154 12115346 GJB3 gap junction protein beta 3 gene DOID:9008681 Deafness ISO RGD:1347813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9843210 12115352 ACOX1 acyl-CoA oxidase 1 gene DOID:0050797 peroxisomal acyl-CoA oxidase deficiency ISO RGD:1344840 D RGD:7240710 20180130 OMIM 12115352 ACOX1 acyl-CoA oxidase 1 gene DOID:0050797 peroxisomal acyl-CoA oxidase deficiency ISO RGD:1344840 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy PMID:11815777|PMID:16199547|PMID:16773508|PMID:17458872|PMID:17576681|PMID:18536048|PMID:24033266|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26965209|PMID:28492532|PMID:2894756|PMID:30561787|PMID:31130284|PMID:32169171|PMID:33510602|PMID:8040306|PMID:8279468|PMID:9536098 12115352 ACOX1 acyl-CoA oxidase 1 gene DOID:630 genetic disease ISO RGD:1344840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32169171 12115352 ACOX1 acyl-CoA oxidase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1344840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12771043|PMID:15565109 12115352 ACOX1 acyl-CoA oxidase 1 gene DOID:9002088 MITCHELL SYNDROME ISO RGD:1344840 D RGD:7240710 20201104 OMIM 12115352 ACOX1 acyl-CoA oxidase 1 gene DOID:9002088 MITCHELL SYNDROME ISO RGD:1344840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitchell syndrome PMID:25741868|PMID:28492532|PMID:32169171 12115352 ACOX1 acyl-CoA oxidase 1 gene DOID:9005532 Muscle Weakness ISO RGD:1344840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868 12115352 ACOX1 acyl-CoA oxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1344840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563825 12115381 CD274 CD274 molecule gene DOID:0040083 Chlamydia pneumonia ISO RGD:1553554 D RGD:9068941 20210219 RGD mRNA:increased expression:lung PMID:26378990|REF_RGD_ID:41412180 12115381 CD274 CD274 molecule gene DOID:0050523 adult T-cell leukemia/lymphoma disease_progression ISO RGD:1605684 D RGD:9068941 20210219 RGD PMID:27418641|REF_RGD_ID:41412177 12115381 CD274 CD274 molecule gene DOID:0050784 primary progressive multiple sclerosis severity ISO RGD:1553554 D RGD:9068941 20200609 RGD PMID:21494618|REF_RGD_ID:6893669 12115381 CD274 CD274 molecule gene DOID:0060058 lymphoma ISO RGD:1605684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28736328 12115381 CD274 CD274 molecule gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1605684 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12115381 CD274 CD274 molecule gene DOID:0080158 herpes simplex virus keratitis ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:16253242|REF_RGD_ID:41410794 12115381 CD274 CD274 molecule gene DOID:0080159 cryptococcal meningitis treatment ISO RGD:1605684 D RGD:9068941 20210219 RGD PMID:29058791|REF_RGD_ID:41412178 12115381 CD274 CD274 molecule gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma disease_progression ISO RGD:1605684 D RGD:9068941 20210219 RGD associated with Epstein-Barr Virus Infections PMID:27595782|REF_RGD_ID:41412182 12115381 CD274 CD274 molecule gene DOID:10534 stomach cancer disease_progression ISO RGD:1605684 D RGD:9068941 20210219 RGD PMID:32089413|PMID:32380498|REF_RGD_ID:40818238|REF_RGD_ID:41410803 12115381 CD274 CD274 molecule gene DOID:10591 pre-eclampsia treatment ISO RGD:1566211 D RGD:9068941 20201203 RGD PMID:27277012|REF_RGD_ID:40886269 12115381 CD274 CD274 molecule gene DOID:11166 papillomavirus infectious disease ISO RGD:1605684 D RGD:9068941 20201203 RGD associated with cervix uteri carcinoma in situ; protein:increased expression:dendritic cell PMID:23521696|REF_RGD_ID:40822817 12115381 CD274 CD274 molecule gene DOID:11260 rabies ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:18490751|REF_RGD_ID:41410795 12115381 CD274 CD274 molecule gene DOID:1205 allergic disease ISO RGD:1605684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20488241|PMID:23624239 12115381 CD274 CD274 molecule gene DOID:12148 alveolar echinococcosis treatment ISO RGD:1553554 D RGD:9068941 20210212 RGD PMID:30315719|REF_RGD_ID:41410787 12115381 CD274 CD274 molecule gene DOID:12155 lymphocytic choriomeningitis ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:23230000|REF_RGD_ID:41410802 12115381 CD274 CD274 molecule gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1553554 D RGD:9068941 20201112 RGD protein:increased expression: lung PMID:25465101|REF_RGD_ID:11056952 12115381 CD274 CD274 molecule gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:1553554 D RGD:9068941 20201112 RGD PMID:25465101|REF_RGD_ID:11056952 12115381 CD274 CD274 molecule gene DOID:14115 toxic shock syndrome ISO RGD:1605684 D RGD:9068941 20201203 RGD protein:increased expression:serum PMID:29702526|REF_RGD_ID:40822808 12115381 CD274 CD274 molecule gene DOID:14115 toxic shock syndrome severity ISO RGD:1605684 D RGD:9068941 20210212 RGD protein:increased expression:lymphocyte, mononcyte PMID:26063974|REF_RGD_ID:41410786 12115381 CD274 CD274 molecule gene DOID:1731 histoplasmosis ISO RGD:1553554 D RGD:9068941 20201203 RGD protein:increased expression:macrophage, dendritic cell, lymphocyte, splenocytes, PMID:18268348|REF_RGD_ID:40822806 12115381 CD274 CD274 molecule gene DOID:1883 hepatitis C ISO RGD:1605684 D RGD:9068941 20210219 RGD protein:increased expression:dendritic cell PMID:20513078|REF_RGD_ID:41410799 12115381 CD274 CD274 molecule gene DOID:2048 autoimmune hepatitis ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:19781375|REF_RGD_ID:41412171 12115381 CD274 CD274 molecule gene DOID:219 colon cancer treatment ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:28424330|REF_RGD_ID:41410791 12115381 CD274 CD274 molecule gene DOID:2394 ovarian cancer ISO RGD:1553554 D RGD:9068941 20210219 RGD associated with ovarian cancer PMID:23340297|REF_RGD_ID:41410797 12115381 CD274 CD274 molecule gene DOID:2394 ovarian cancer treatment ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:28424330|REF_RGD_ID:41410791 12115381 CD274 CD274 molecule gene DOID:2841 asthma treatment ISO RGD:1553554 D RGD:9068941 20210219 RGD associated with Chlamydia pneumonia PMID:26378990|REF_RGD_ID:41412180 12115381 CD274 CD274 molecule gene DOID:2957 pulmonary tuberculosis ISO RGD:1605684 D RGD:9068941 20201203 RGD protein:increased expression:Tcell, B cell, monocyte PMID:23661793|REF_RGD_ID:40818418 12115381 CD274 CD274 molecule gene DOID:303 substance-related disorder ISO RGD:1605684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12115381 CD274 CD274 molecule gene DOID:3951 acute myocarditis ISO RGD:1553554 D RGD:9068941 20201203 RGD associated with Coxsackievirus Infections;protein:increased expression:ventricle: PMID:17434153|REF_RGD_ID:40822819 12115381 CD274 CD274 molecule gene DOID:399 tuberculosis ISO RGD:1605684 D RGD:9068941 20210219 RGD mRNA, protein:increased expression:blood, neutrophil PMID:21509782|REF_RGD_ID:41412173 12115381 CD274 CD274 molecule gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:1553554 D RGD:9068941 20200609 RGD PMID:21965585|REF_RGD_ID:7248671 12115381 CD274 CD274 molecule gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1605684 D RGD:9068941 20210219 RGD PMID:30161254|PMID:30236481|REF_RGD_ID:41412179|REF_RGD_ID:41412181 12115381 CD274 CD274 molecule gene DOID:630 genetic disease ISO RGD:1605684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115381 CD274 CD274 molecule gene DOID:646 viral encephalitis ISO RGD:1553554 D RGD:9068941 20201113 RGD PMID:20876353|PMID:31105690|REF_RGD_ID:40818239|REF_RGD_ID:6893671 12115381 CD274 CD274 molecule gene DOID:646 viral encephalitis ISO RGD:1553554 D RGD:9068941 20201113 RGD protein:increased expression: myeloid cells, microglia, astrocytes PMID:31105690|REF_RGD_ID:40818239 12115381 CD274 CD274 molecule gene DOID:684 hepatocellular carcinoma ISO RGD:1605684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22396772 12115381 CD274 CD274 molecule gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1605684 D RGD:9068941 20201113 RGD associated with hepatitis B PMID:30267213|REF_RGD_ID:40818240 12115381 CD274 CD274 molecule gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1605684 D RGD:9068941 20210219 RGD associated with hepatitis B PMID:21912640|REF_RGD_ID:41410800 12115381 CD274 CD274 molecule gene DOID:824 periodontitis ISO RGD:1566211 D RGD:9068941 20201203 RGD protein:increased expression:periodontium PMID:32346701|REF_RGD_ID:40886271 12115381 CD274 CD274 molecule gene DOID:8469 influenza ISO RGD:1605684 D RGD:9068941 20210219 RGD PMID:24187568|REF_RGD_ID:41410793 12115381 CD274 CD274 molecule gene DOID:8566 herpes simplex ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:29669784|REF_RGD_ID:41412169 12115381 CD274 CD274 molecule gene DOID:8991 cervix uteri carcinoma in situ severity ISO RGD:1605684 D RGD:9068941 20201203 RGD associated with Papillomavirus Infections; protein:increased expression:dendritic cell PMID:23521696|REF_RGD_ID:40822817 12115381 CD274 CD274 molecule gene DOID:9000039 Spinal Cord Injuries ISO RGD:1566211 D RGD:9068941 20201203 RGD mRNA:increased expression:microglial cell PMID:29665726|REF_RGD_ID:40886268 12115381 CD274 CD274 molecule gene DOID:9000220 Coxsackievirus Infections treatment ISO RGD:1553554 D RGD:9068941 20201127 RGD PMID:30904424|REF_RGD_ID:40818421 12115381 CD274 CD274 molecule gene DOID:9000277 Radiation-Induced Neoplasms ISO RGD:1605684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28736328 12115381 CD274 CD274 molecule gene DOID:9000918 Disease Progression ISO RGD:1605684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27692344 12115381 CD274 CD274 molecule gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1605684 D RGD:9068941 20210219 RGD associated with ovarian cancer PMID:23340297|REF_RGD_ID:41410797 12115381 CD274 CD274 molecule gene DOID:9001228 Fungemia treatment ISO RGD:1553554 D RGD:9068941 20201112 RGD PMID:23663657|REF_RGD_ID:40818234 12115381 CD274 CD274 molecule gene DOID:9002780 Recurrent Respiratory Papillomatosis ISO RGD:1605684 D RGD:9068941 20201203 RGD protein:increased expression: larynx PMID:22322668|REF_RGD_ID:40822813 12115381 CD274 CD274 molecule gene DOID:9002801 Recurrence ISO RGD:1605684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22396772 12115381 CD274 CD274 molecule gene DOID:9003223 Corneal Graft Rejection treatment ISO RGD:1566211 D RGD:9068941 20210219 RGD PMID:22300371|REF_RGD_ID:41412184 12115381 CD274 CD274 molecule gene DOID:9004017 Chronic Hepatitis C ISO RGD:1605684 D RGD:9068941 20210219 RGD protein:increased expression:peripheral blood mononuclear cell PMID:18086898|REF_RGD_ID:41410796 12115381 CD274 CD274 molecule gene DOID:9004283 Transplant Rejection ISO RGD:1553554 D RGD:9068941 20200609 RGD PMID:14662900|REF_RGD_ID:8657367 12115381 CD274 CD274 molecule gene DOID:9004484 Sepsis ISO RGD:1605684 D RGD:9068941 20201112 RGD protein:increased expression:monocyte PMID:30595665|REF_RGD_ID:40818235 12115381 CD274 CD274 molecule gene DOID:9004484 Sepsis ISO RGD:1605684 D RGD:9068941 20201203 RGD protein:increased expression:B cell,CD4T cell PMID:29661225|REF_RGD_ID:40818424 12115381 CD274 CD274 molecule gene DOID:9004484 Sepsis disease_progression ISO RGD:1605684 D RGD:9068941 20201203 RGD PMID:29702526|REF_RGD_ID:40822808 12115381 CD274 CD274 molecule gene DOID:9004484 Sepsis disease_progression ISO RGD:1605684 D RGD:9068941 20210219 RGD protein:increased expression:monocyte PMID:27156867|REF_RGD_ID:41412183 12115381 CD274 CD274 molecule gene DOID:9005161 Thymus Neoplasms ISO RGD:1605684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28736328 12115381 CD274 CD274 molecule gene DOID:9005172 Lung Neoplasms ISO RGD:1605684 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:27692344|PMID:34166680 12115381 CD274 CD274 molecule gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:1566211 D RGD:9068941 20201203 RGD PMID:29043842|REF_RGD_ID:40886270 12115381 CD274 CD274 molecule gene DOID:9006644 Retroviridae Infections treatment ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:24187568|REF_RGD_ID:41410793 12115381 CD274 CD274 molecule gene DOID:9006925 Hepatic Echinococcosis ISO RGD:1553554 D RGD:9068941 20210219 RGD mRNA, protein:increased expression:liver PMID:25907244|REF_RGD_ID:41412175 12115381 CD274 CD274 molecule gene DOID:9006928 Viral Bronchiolitis ISO RGD:1553554 D RGD:9068941 20201117 RGD mRNA:increased expression:lung PMID:22797302|REF_RGD_ID:40818270 12115381 CD274 CD274 molecule gene DOID:9006928 Viral Bronchiolitis treatment ISO RGD:1553554 D RGD:9068941 20201117 RGD PMID:22797302|REF_RGD_ID:40818270 12115381 CD274 CD274 molecule gene DOID:9008163 Chronic Hepatitis B ISO RGD:1605684 D RGD:9068941 20210219 RGD protein:increased expression:regulatory T cell PMID:26266813|REF_RGD_ID:11344683 12115381 CD274 CD274 molecule gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:20460044|REF_RGD_ID:41412166 12115381 CD274 CD274 molecule gene DOID:9111 cutaneous leishmaniasis ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:16358363|REF_RGD_ID:41410801 12115416 PSMD6 proteasome 26S subunit, non-ATPase 6 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1351950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12115416 PSMD6 proteasome 26S subunit, non-ATPase 6 gene DOID:630 genetic disease ISO RGD:1351950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115416 PSMD6 proteasome 26S subunit, non-ATPase 6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158537 12115432 HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:1321513 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12115432 HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:0050711 aceruloplasminemia ISO RGD:1321513 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deficiency of ferroxidase PMID:18414213|PMID:24033266|PMID:28492532 12115432 HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1321513 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:11590544|PMID:28492532|PMID:31898847|PMID:32581362 12115432 HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:0060541 Hermansky-Pudlak syndrome 3 ISO RGD:1321513 D RGD:7240710 20180130 OMIM 12115432 HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:0060541 Hermansky-Pudlak syndrome 3 ISO RGD:1321513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3 PMID:11455388|PMID:11590544|PMID:16199547|PMID:17576681|PMID:17933573|PMID:18414213|PMID:24033266|PMID:25525159|PMID:25741868|PMID:27593200|PMID:28492532|PMID:30387913|PMID:30990103|PMID:31141302|PMID:31898847|PMID:9536098 12115432 HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1321513 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 12115432 HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:10283 prostate cancer ISO RGD:1321513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12115432 HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:2213 hemorrhagic disease ISO RGD:1321513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 12115432 HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:2223 platelet storage pool deficiency ISO RGD:1321514 D RGD:9068941 20220825 MouseDO OMIM:185050 12115432 HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1321513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:11590544|PMID:16199547|PMID:17933573|PMID:18414213|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26575419|PMID:27593200|PMID:28492532|PMID:30387913|PMID:30990103|PMID:31064749|PMID:31141302|PMID:31898847|PMID:32581362|PMID:35886065 12115432 HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:630 genetic disease ISO RGD:1321513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12115466 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:0050753 cerebellar ataxia ISO RGD:1605663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dysmetria PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25741868|PMID:28492532|PMID:33977142|PMID:35379322 12115466 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:0050952 spastic ataxia ISO RGD:1605663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 12115466 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:10763 hypertension ISO RGD:1605663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypertension PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25741868|PMID:28492532|PMID:33977142|PMID:35379322 12115466 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:11836 clubfoot ISO RGD:1605663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital Talipes Equinovarus PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25741868|PMID:28492532|PMID:33977142|PMID:35379322 12115466 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:13189 gout ISO RGD:1605663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Gout PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25741868|PMID:28492532|PMID:33977142|PMID:35379322 12115466 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:1540 parathyroid carcinoma ISO RGD:1605663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12115466 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:3755 antithrombin III deficiency ISO RGD:1605663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 12115466 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1605663 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25741868|PMID:26327357|PMID:28492532|PMID:33977142|PMID:35379322 12115466 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1605663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 12115466 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:9002563 Gait Ataxia ISO RGD:1605663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Gait ataxia PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25741868|PMID:28492532|PMID:33977142|PMID:35379322 12115466 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:9007114 Mobility Limitation ISO RGD:1605663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25741868|PMID:28492532|PMID:33977142|PMID:35379322 12115466 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 12115466 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:9007747 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation ISO RGD:1605663 D RGD:7240710 20180130 OMIM 12115466 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:9007747 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation ISO RGD:1605663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation PMID:16199547|PMID:17384640|PMID:19592391|PMID:21493805|PMID:21749991|PMID:21815884|PMID:22843165|PMID:23065766|PMID:23216004|PMID:23652419|PMID:24005482|PMID:24030952|PMID:24407472|PMID:24566671|PMID:25741868|PMID:26327357|PMID:26620921|PMID:28017220|PMID:28492532|PMID:30006346|PMID:30352563|PMID:32571458|PMID:33977142|PMID:35379322 12115466 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12115466 DARS2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:9277 primary cerebellar degeneration ISO RGD:1605663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Sensorimotor neuropathy PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25741868|PMID:28492532|PMID:33977142|PMID:35379322 12115500 SETBP1 SET binding protein 1 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1314725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23832011|PMID:26457647 12115500 SETBP1 SET binding protein 1 gene DOID:0060058 lymphoma ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoma 12115500 SETBP1 SET binding protein 1 gene DOID:0060356 Vici syndrome ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 12115500 SETBP1 SET binding protein 1 gene DOID:0060597 atypical chronic myeloid leukemia ISO RGD:1314725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23222956 12115500 SETBP1 SET binding protein 1 gene DOID:0070059 autosomal dominant intellectual developmental disorder 29 ISO RGD:1314725 D RGD:7240710 20180130 OMIM 12115500 SETBP1 SET binding protein 1 gene DOID:0070059 autosomal dominant intellectual developmental disorder 29 ISO RGD:1314725 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 29 PMID:16199547|PMID:18414213|PMID:20436468|PMID:21037274|PMID:23222956|PMID:25028416|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:25852444|PMID:26350204|PMID:26467025|PMID:27824329|PMID:28346496|PMID:28492532|PMID:31332282|PMID:31680123|PMID:32460883|PMID:33391157|PMID:34782754 12115500 SETBP1 SET binding protein 1 gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:1314725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:18398855|PMID:18414213|PMID:20436468|PMID:21371013|PMID:23222956|PMID:25741868|PMID:28492532 12115500 SETBP1 SET binding protein 1 gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:1314725 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:25741868|PMID:28492532 12115500 SETBP1 SET binding protein 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:18414213|PMID:20436468|PMID:25028416|PMID:25741868|PMID:28346496|PMID:31680123|PMID:34782754 12115500 SETBP1 SET binding protein 1 gene DOID:10534 stomach cancer ISO RGD:69092 D RGD:9068941 20220311 RGD PMID:27006499|REF_RGD_ID:11354809 12115500 SETBP1 SET binding protein 1 gene DOID:1059 intellectual disability ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12115500 SETBP1 SET binding protein 1 gene DOID:1826 epilepsy ISO RGD:1314725 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12115500 SETBP1 SET binding protein 1 gene DOID:1882 atrial heart septal defect ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12115500 SETBP1 SET binding protein 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1314725 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 PMID:16199547|PMID:21037274|PMID:25217958|PMID:25741868|PMID:28492532 12115500 SETBP1 SET binding protein 1 gene DOID:630 genetic disease ISO RGD:1314725 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20436468|PMID:21037274|PMID:23222956|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:27824329|PMID:28346496|PMID:28492532|PMID:31332282|PMID:32460883|PMID:33391157 12115500 SETBP1 SET binding protein 1 gene DOID:8692 myeloid leukemia ISO RGD:1314725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23832012 12115500 SETBP1 SET binding protein 1 gene DOID:9001389 Schinzel-Giedion Syndrome ISO RGD:1314725 D RGD:7240710 20180130 OMIM 12115500 SETBP1 SET binding protein 1 gene DOID:9001389 Schinzel-Giedion Syndrome ISO RGD:1314725 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: SETBP1-Related Disorder | ClinVar Annotator: match by term: Schinzel-Giedion syndrome PMID:18398855|PMID:18414213|PMID:20436468|PMID:21037274|PMID:21371013|PMID:23222956|PMID:24033266|PMID:25028416|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:25852444|PMID:26350204|PMID:26467025|PMID:27824329|PMID:28346496|PMID:28492532|PMID:31332282|PMID:31680123|PMID:32445275|PMID:32460883|PMID:33391157|PMID:34782754 12115500 SETBP1 SET binding protein 1 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 12115500 SETBP1 SET binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12115500 SETBP1 SET binding protein 1 gene DOID:9004657 Weight Gain ISO RGD:1314725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12115500 SETBP1 SET binding protein 1 gene DOID:9005466 Language Development Disorders ISO RGD:1314725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25217958 12115500 SETBP1 SET binding protein 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12115500 SETBP1 SET binding protein 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:1314725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20436468 12115500 SETBP1 SET binding protein 1 gene DOID:9008582 Developmental Disease ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12115500 SETBP1 SET binding protein 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1314725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20436468 12115500 SETBP1 SET binding protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1314725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25751625 12115509 PLCD3 phospholipase C delta 3 gene DOID:630 genetic disease ISO RGD:1322076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115530 CCNQ cyclin Q gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1604257 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12115530 CCNQ cyclin Q gene DOID:0050476 Barth syndrome ISO RGD:1604257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12115530 CCNQ cyclin Q gene DOID:0050800 creatine transporter deficiency ISO RGD:1604257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12115530 CCNQ cyclin Q gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12115530 CCNQ cyclin Q gene DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome ISO RGD:1604257 D RGD:7240710 20180130 OMIM 12115530 CCNQ cyclin Q gene DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome ISO RGD:1604257 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Syndactyly-telecanthus-anogenital and renal malformations syndrome PMID:18297069|PMID:25741868|PMID:8818947 12115530 CCNQ cyclin Q gene DOID:0112003 immunodeficiency 33 ISO RGD:1604257 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12115530 CCNQ cyclin Q gene DOID:10588 adrenoleukodystrophy ISO RGD:1604257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12115530 CCNQ cyclin Q gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1604257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12115530 CCNQ cyclin Q gene DOID:1227 neutropenia ISO RGD:1604257 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:28492532 12115530 CCNQ cyclin Q gene DOID:12849 autistic disorder ISO RGD:1604257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12115530 CCNQ cyclin Q gene DOID:13628 favism ISO RGD:1604257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12115530 CCNQ cyclin Q gene DOID:2729 dyskeratosis congenita ISO RGD:1604257 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12115530 CCNQ cyclin Q gene DOID:607 paraplegia ISO RGD:1604257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12115530 CCNQ cyclin Q gene DOID:630 genetic disease ISO RGD:1604257 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115530 CCNQ cyclin Q gene DOID:9002720 Splenomegaly ISO RGD:1604257 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12115543 FGF11 fibroblast growth factor 11 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:734211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12115543 FGF11 fibroblast growth factor 11 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:734211 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12115543 FGF11 fibroblast growth factor 11 gene DOID:1059 intellectual disability ISO RGD:734211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12115543 FGF11 fibroblast growth factor 11 gene DOID:12177 common variable immunodeficiency ISO RGD:734211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12115543 FGF11 fibroblast growth factor 11 gene DOID:2729 dyskeratosis congenita ISO RGD:734211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12115543 FGF11 fibroblast growth factor 11 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:734211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12115543 FGF11 fibroblast growth factor 11 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:734211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12115543 FGF11 fibroblast growth factor 11 gene DOID:630 genetic disease ISO RGD:734211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115564 RXYLT1 ribitol xylosyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1319660 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:23217329|PMID:24033266|PMID:25741868|PMID:28492532 12115564 RXYLT1 ribitol xylosyltransferase 1 gene DOID:0111239 congenital muscular dystrophy-dystroglycanopathy type A10 ISO RGD:1319660 D RGD:7240710 20180130 OMIM 12115564 RXYLT1 ribitol xylosyltransferase 1 gene DOID:0111239 congenital muscular dystrophy-dystroglycanopathy type A10 ISO RGD:1319660 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 PMID:17576681|PMID:23217329|PMID:23519211|PMID:24033266|PMID:25640679|PMID:25741868|PMID:28492532|PMID:30017359|PMID:31742715|PMID:9536098 12115564 RXYLT1 ribitol xylosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1319660 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115573 C5H16orf95 chromosome 5 C16orf95 homolog gene DOID:13042 persistent fetal circulation syndrome ISO RGD:5132711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12115573 C5H16orf95 chromosome 5 C16orf95 homolog gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:5132711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12115593 PDCD1LG2 programmed cell death 1 ligand 2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1314998 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12115593 PDCD1LG2 programmed cell death 1 ligand 2 gene DOID:1731 histoplasmosis ISO RGD:1552436 D RGD:9068941 20201203 RGD protein:increased expression:macrophage, dendritic cell PMID:18268348|REF_RGD_ID:40822806 12115593 PDCD1LG2 programmed cell death 1 ligand 2 gene DOID:2048 autoimmune hepatitis ISO RGD:1552436 D RGD:9068941 20210219 RGD PMID:19781375|REF_RGD_ID:41412171 12115593 PDCD1LG2 programmed cell death 1 ligand 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:1314998 D RGD:9068941 20201203 RGD protein:increased expression:Tcell, B cell, monocyte PMID:23661793|REF_RGD_ID:40818418 12115593 PDCD1LG2 programmed cell death 1 ligand 2 gene DOID:630 genetic disease ISO RGD:1314998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115593 PDCD1LG2 programmed cell death 1 ligand 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1306403 D RGD:9068941 20201203 RGD mRNA:increased expression:microglial cell PMID:29665726|REF_RGD_ID:40886268 12115593 PDCD1LG2 programmed cell death 1 ligand 2 gene DOID:9000220 Coxsackievirus Infections treatment ISO RGD:1552436 D RGD:9068941 20201127 RGD PMID:30904424|REF_RGD_ID:40818421 12115593 PDCD1LG2 programmed cell death 1 ligand 2 gene DOID:9004484 Sepsis ISO RGD:1314998 D RGD:9068941 20201127 RGD protein:increased expression:CD27B cell PMID:29661225|REF_RGD_ID:40818424 12115593 PDCD1LG2 programmed cell death 1 ligand 2 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1552436 D RGD:9068941 20210219 RGD PMID:16358363|REF_RGD_ID:41410801 12115609 TLCD2 TLC domain containing 2 gene DOID:630 genetic disease ISO RGD:2292702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115617 KPTN kaptin, actin binding protein gene DOID:0080600 COVID-19 ISO RGD:1321189 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12115617 KPTN kaptin, actin binding protein gene DOID:0081206 autosomal recessive intellectual developmental disorder 41 ISO RGD:1321189 D RGD:7240710 20180130 OMIM 12115617 KPTN kaptin, actin binding protein gene DOID:0081206 autosomal recessive intellectual developmental disorder 41 ISO RGD:1321189 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Macrocephaly-developmental delay syndrome PMID:17576681|PMID:24239382|PMID:25741868|PMID:25847626|PMID:28492532|PMID:31345272|PMID:32238909|PMID:32358097|PMID:32808430|PMID:9536098 12115617 KPTN kaptin, actin binding protein gene DOID:1059 intellectual disability ISO RGD:1321189 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24239382|PMID:25741868|PMID:25847626|PMID:28492532|PMID:32238909|PMID:32808430 12115617 KPTN kaptin, actin binding protein gene DOID:630 genetic disease ISO RGD:1321189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12115636 RPS27 ribosomal protein S27 gene DOID:0070048 GAND syndrome ISO RGD:732460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 12115636 RPS27 ribosomal protein S27 gene DOID:0111880 Diamond-Blackfan anemia 17 ISO RGD:732460 D RGD:7240710 20190315 OMIM 12115636 RPS27 ribosomal protein S27 gene DOID:0111880 Diamond-Blackfan anemia 17 ISO RGD:732460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 17 PMID:25424902|PMID:25741868 12115636 RPS27 ribosomal protein S27 gene DOID:0111940 immunodeficiency 42 ISO RGD:732460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12115636 RPS27 ribosomal protein S27 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12115636 RPS27 ribosomal protein S27 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 12115636 RPS27 ribosomal protein S27 gene DOID:1540 parathyroid carcinoma ISO RGD:732460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12115636 RPS27 ribosomal protein S27 gene DOID:5812 MHC class II deficiency ISO RGD:732460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12115636 RPS27 ribosomal protein S27 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12115644 FAM171A2 family with sequence similarity 171 member A2 gene DOID:630 genetic disease ISO RGD:2298821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115656 LOC100683001 small integral membrane protein 10-like protein 2A gene DOID:630 genetic disease ISO RGD:1606484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115672 LOC100688040 protein PET117 homolog, mitochondrial gene DOID:630 genetic disease ISO RGD:5688594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115672 LOC100688040 protein PET117 homolog, mitochondrial gene DOID:9006233 Mitochondrial Complex IV Deficiency, Nuclear Type 19 ISO RGD:5688594 D RGD:7240710 20201111 OMIM 12115672 LOC100688040 protein PET117 homolog, mitochondrial gene DOID:9006233 Mitochondrial Complex IV Deficiency, Nuclear Type 19 ISO RGD:5688594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 PMID:25741868|PMID:28386624 12115678 ARID2 AT-rich interaction domain 2 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1322383 D RGD:9068941 20210903 RGD PMID:31918270|REF_RGD_ID:150340710 12115678 ARID2 AT-rich interaction domain 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1322383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12115678 ARID2 AT-rich interaction domain 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1322383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 12115678 ARID2 AT-rich interaction domain 2 gene DOID:0080297 Coffin-Siris syndrome 6 ISO RGD:1322383 D RGD:7240710 20190315 OMIM 12115678 ARID2 AT-rich interaction domain 2 gene DOID:0080297 Coffin-Siris syndrome 6 ISO RGD:1322383 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 6 PMID:24728327|PMID:25741868|PMID:26238514|PMID:28124119|PMID:28492532|PMID:28884947|PMID:30838730 12115678 ARID2 AT-rich interaction domain 2 gene DOID:0111152 multicentric Castleman disease ISO RGD:1322383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TAFRO syndrome 12115678 ARID2 AT-rich interaction domain 2 gene DOID:10534 stomach cancer onset ISO RGD:1322383 D RGD:9068941 20210430 RGD protein:decreased expression:stomach (human) PMID:26637902|REF_RGD_ID:126848744 12115678 ARID2 AT-rich interaction domain 2 gene DOID:1059 intellectual disability ISO RGD:1322383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12115678 ARID2 AT-rich interaction domain 2 gene DOID:10907 microcephaly ISO RGD:1322383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24728327|PMID:25741868|PMID:28492532 12115678 ARID2 AT-rich interaction domain 2 gene DOID:1324 lung cancer ISO RGD:1322383 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12115678 ARID2 AT-rich interaction domain 2 gene DOID:630 genetic disease ISO RGD:1322383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24728327|PMID:25741868|PMID:28492532 12115678 ARID2 AT-rich interaction domain 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1322383 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 12115678 ARID2 AT-rich interaction domain 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1322383 D RGD:9068941 20210910 RGD PMID:25701229|PMID:32071245|REF_RGD_ID:150340708|REF_RGD_ID:150429631 12115678 ARID2 AT-rich interaction domain 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1322383 D RGD:9068941 20210903 RGD PMID:27351279|REF_RGD_ID:150340711 12115678 ARID2 AT-rich interaction domain 2 gene DOID:9000351 Diarrhea 9 ISO RGD:1322383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic diarrhea PMID:25741868 12115678 ARID2 AT-rich interaction domain 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12115678 ARID2 AT-rich interaction domain 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12115678 ARID2 AT-rich interaction domain 2 gene DOID:9008582 Developmental Disease ISO RGD:1322383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12115678 ARID2 AT-rich interaction domain 2 gene DOID:9009121 lung metastasis exacerbates ISO RGD:1322383 D RGD:9068941 20210903 RGD associated with hepatocellular carcinoma, PMID:32071245|REF_RGD_ID:150340708 12115678 ARID2 AT-rich interaction domain 2 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1322383 D RGD:9068941 20210910 RGD PMID:33262464|REF_RGD_ID:150429650 12115708 MIR502 microRNA mir-502 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12115708 MIR502 microRNA mir-502 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1603437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12115708 MIR502 microRNA mir-502 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1603437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12115708 MIR502 microRNA mir-502 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1603437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12115708 MIR502 microRNA mir-502 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1603437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12115708 MIR502 microRNA mir-502 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1603437 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 12115708 MIR502 microRNA mir-502 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1603437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12115708 MIR502 microRNA mir-502 gene DOID:12849 autistic disorder ISO RGD:1603437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12115708 MIR502 microRNA mir-502 gene DOID:657 adenoma ISO RGD:1625973 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 12115708 MIR502 microRNA mir-502 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1625973 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 12115708 MIR502 microRNA mir-502 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1625973 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12115708 MIR502 microRNA mir-502 gene DOID:9008579 Dent Disease 1 ISO RGD:1603437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrolithiasis 2 PMID:15052463|PMID:7874126|PMID:9328929 12115725 PNMA8A PNMA family member 8A gene DOID:630 genetic disease ISO RGD:1605375 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115763 LOC106557817 protocadherin beta-2-like gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1316874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12115763 LOC106557817 protocadherin beta-2-like gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1316874 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12115763 LOC106557817 protocadherin beta-2-like gene DOID:630 genetic disease ISO RGD:1316874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115763 LOC106557817 protocadherin beta-2-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12115763 LOC106557817 protocadherin beta-2-like gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316874 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12115802 HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1318867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12115802 HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318867 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12115802 HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1318867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12115802 HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 gene DOID:3717 gastric adenocarcinoma severity ISO RGD:1318867 D RGD:9068941 20200609 RGD mRNA:decreased expression:gastric adenocarcinoma (human) PMID:23007704|REF_RGD_ID:9854641 12115802 HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 gene DOID:630 genetic disease ISO RGD:1318867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115802 HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12115802 HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318867 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12115808 EEF1AKMT1 EEF1A lysine methyltransferase 1 gene DOID:0110253 cataract 14 multiple types ISO RGD:1606676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 12115808 EEF1AKMT1 EEF1A lysine methyltransferase 1 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1606676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:28492532 12115808 EEF1AKMT1 EEF1A lysine methyltransferase 1 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1606676 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:28492532 12115808 EEF1AKMT1 EEF1A lysine methyltransferase 1 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1606676 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:28492532 12115808 EEF1AKMT1 EEF1A lysine methyltransferase 1 gene DOID:14693 Clouston syndrome ISO RGD:1606676 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia PMID:28492532 12115808 EEF1AKMT1 EEF1A lysine methyltransferase 1 gene DOID:2121 ectodermal dysplasia ISO RGD:1606676 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 12115808 EEF1AKMT1 EEF1A lysine methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1606676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115825 RERG RAS like estrogen regulated growth inhibitor gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1349252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12115825 RERG RAS like estrogen regulated growth inhibitor gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1349252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12115825 RERG RAS like estrogen regulated growth inhibitor gene DOID:1612 breast cancer severity ISO RGD:1349252 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:11533059|REF_RGD_ID:1304529 12115825 RERG RAS like estrogen regulated growth inhibitor gene DOID:630 genetic disease ISO RGD:1349252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115840 RIN3 Ras and Rab interactor 3 gene DOID:0080054 achondrogenesis type IA ISO RGD:1314128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12115840 RIN3 Ras and Rab interactor 3 gene DOID:1749 squamous cell carcinoma ISO RGD:1314128 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 12115840 RIN3 Ras and Rab interactor 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1314128 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 12115840 RIN3 Ras and Rab interactor 3 gene DOID:5408 Paget's disease of bone ISO RGD:1314128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21623375 12115840 RIN3 Ras and Rab interactor 3 gene DOID:630 genetic disease ISO RGD:1314128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115858 B3GALT2 beta-1,3-galactosyltransferase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1347261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:12434154|PMID:25444225|PMID:28492532|PMID:29040582 12115858 B3GALT2 beta-1,3-galactosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1347261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115858 B3GALT2 beta-1,3-galactosyltransferase 2 gene DOID:9002327 Hyperparathyroidism 2 ISO RGD:1347261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors PMID:25637381 12115858 B3GALT2 beta-1,3-galactosyltransferase 2 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1347261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:25741868|PMID:28774260 12115858 B3GALT2 beta-1,3-galactosyltransferase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12115864 HELB DNA helicase B gene DOID:630 genetic disease ISO RGD:1344471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115903 NGF nerve growth factor gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12115903 NGF nerve growth factor gene DOID:0050848 obstructive sleep apnea ISO RGD:1352304 D RGD:9068941 20200609 RGD PMID:17667845|REF_RGD_ID:5144120 12115903 NGF nerve growth factor gene DOID:0050850 diabetic encephalopathy treatment ISO RGD:10978 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23528019|REF_RGD_ID:7242845 12115903 NGF nerve growth factor gene DOID:0070145 hereditary sensory and autonomic neuropathy type 5 ISO RGD:1352304 D RGD:7240710 20180130 OMIM 12115903 NGF nerve growth factor gene DOID:0070145 hereditary sensory and autonomic neuropathy type 5 ISO RGD:1352304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar Annotator: match by term: HSAN Type V PMID:14976160|PMID:18420729|PMID:19038341|PMID:19945432|PMID:20978020|PMID:21358750|PMID:21387003|PMID:22330829|PMID:25741868|PMID:26215504|PMID:28492532|PMID:30296891|PMID:32693191 12115903 NGF nerve growth factor gene DOID:0070355 overactive bladder syndrome ISO RGD:10978 D RGD:9068941 20200609 RGD associated with Cystitis;protein:increased expression:urine PMID:21717507|REF_RGD_ID:7242779 12115903 NGF nerve growth factor gene DOID:0070355 overactive bladder syndrome ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16600756 12115903 NGF nerve growth factor gene DOID:0070355 overactive bladder syndrome ISO RGD:1352304 D RGD:9068941 20200609 RGD PMID:17050722|REF_RGD_ID:7242798 12115903 NGF nerve growth factor gene DOID:0070355 overactive bladder syndrome ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21826717|REF_RGD_ID:7242778 12115903 NGF nerve growth factor gene DOID:0070355 overactive bladder syndrome treatment ISO RGD:1598328 D RGD:9068941 20200609 RGD associated with Cystitis PMID:21605172|REF_RGD_ID:7242780 12115903 NGF nerve growth factor gene DOID:0070355 overactive bladder syndrome treatment ISO RGD:1598328 D RGD:9068941 20200609 RGD associated with Hypertension PMID:22473863|REF_RGD_ID:7242775 12115903 NGF nerve growth factor gene DOID:0080690 RASopathy ISO RGD:1352304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12115903 NGF nerve growth factor gene DOID:0080855 Parkinsonism ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19694610 12115903 NGF nerve growth factor gene DOID:10003 sensorineural hearing loss ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:14587217|REF_RGD_ID:8655553 12115903 NGF nerve growth factor gene DOID:10584 retinitis pigmentosa ISO RGD:1598328 D RGD:9068941 20200609 RGD protein:decreased expression:lacrimal gland PMID:20595895|REF_RGD_ID:4891133 12115903 NGF nerve growth factor gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1352304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:20978020|PMID:22302274|PMID:28492532 12115903 NGF nerve growth factor gene DOID:1063 interstitial nephritis ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16889433 12115903 NGF nerve growth factor gene DOID:10652 Alzheimer's disease ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:21368378|REF_RGD_ID:5144128 12115903 NGF nerve growth factor gene DOID:10763 hypertension ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:10797303|REF_RGD_ID:5144109 12115903 NGF nerve growth factor gene DOID:10914 amnestic disorder ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16405025|PMID:19694610 12115903 NGF nerve growth factor gene DOID:11446 sciatic neuropathy treatment ISO RGD:10978 D RGD:9068941 20200609 RGD PMID:22776032|REF_RGD_ID:7242913 12115903 NGF nerve growth factor gene DOID:12143 neurogenic bladder ISO RGD:1352304 D RGD:9068941 20200609 RGD associated with Meningomyelocele;protein:increased expression:urine PMID:23301927|REF_RGD_ID:7242771 12115903 NGF nerve growth factor gene DOID:12143 neurogenic bladder treatment ISO RGD:1598328 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries PMID:22220508|REF_RGD_ID:7242776 12115903 NGF nerve growth factor gene DOID:12217 Lewy body dementia ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 12115903 NGF nerve growth factor gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:19824047|REF_RGD_ID:4891065 12115903 NGF nerve growth factor gene DOID:1289 neurodegenerative disease ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24244623 12115903 NGF nerve growth factor gene DOID:13406 pulmonary sarcoidosis ISO RGD:1352304 D RGD:9068941 20200609 RGD PMID:16315781|REF_RGD_ID:4891110 12115903 NGF nerve growth factor gene DOID:13406 pulmonary sarcoidosis ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:21059230|REF_RGD_ID:5144061 12115903 NGF nerve growth factor gene DOID:13948 bladder neck obstruction treatment ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:22795377|REF_RGD_ID:7242774 12115903 NGF nerve growth factor gene DOID:13949 interstitial cystitis ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:serum, urine PMID:23028581|REF_RGD_ID:7242773 12115903 NGF nerve growth factor gene DOID:13949 interstitial cystitis treatment ISO RGD:10978 D RGD:9068941 20200609 RGD PMID:18162370|REF_RGD_ID:7242805 12115903 NGF nerve growth factor gene DOID:13949 interstitial cystitis treatment ISO RGD:1352304 D RGD:9068941 20200609 RGD PMID:20227820|REF_RGD_ID:7242781 12115903 NGF nerve growth factor gene DOID:14330 Parkinson's disease ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 12115903 NGF nerve growth factor gene DOID:1459 hypothyroidism ISO RGD:1598328 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus PMID:19233274|REF_RGD_ID:2303791 12115903 NGF nerve growth factor gene DOID:1596 depressive disorder ISO RGD:1598328 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:19129380|REF_RGD_ID:2303796 12115903 NGF nerve growth factor gene DOID:1679 cystitis ISO RGD:10978 D RGD:9068941 20200609 RGD PMID:11350415|REF_RGD_ID:7242808 12115903 NGF nerve growth factor gene DOID:1679 cystitis ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16889433 12115903 NGF nerve growth factor gene DOID:1679 cystitis ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:19996110|REF_RGD_ID:7242802 12115903 NGF nerve growth factor gene DOID:1679 cystitis treatment ISO RGD:10978 D RGD:9068941 20200609 RGD PMID:20127836|REF_RGD_ID:7242782 12115903 NGF nerve growth factor gene DOID:1686 glaucoma ISO RGD:1598328 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:18938194|REF_RGD_ID:2303806 12115903 NGF nerve growth factor gene DOID:1790 malignant mesothelioma ISO RGD:1352304 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 12115903 NGF nerve growth factor gene DOID:1824 status epilepticus ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635431|PMID:8821376 12115903 NGF nerve growth factor gene DOID:1936 atherosclerosis ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:decreased expression:coronary artery PMID:11689207|REF_RGD_ID:5508382 12115903 NGF nerve growth factor gene DOID:2841 asthma ISO RGD:10978 D RGD:9068941 20200609 RGD protein:increased expression:lung, serum PMID:17497413|REF_RGD_ID:4891068 12115903 NGF nerve growth factor gene DOID:2841 asthma ISO RGD:1352304 D RGD:9068941 20200609 RGD PMID:11737043|REF_RGD_ID:4891123 12115903 NGF nerve growth factor gene DOID:2841 asthma ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:blood, eosinophil PMID:12752594|REF_RGD_ID:4891122 12115903 NGF nerve growth factor gene DOID:2841 asthma severity ISO RGD:1352304 D RGD:9068941 20200609 RGD PMID:17164945|REF_RGD_ID:4891108 12115903 NGF nerve growth factor gene DOID:2921 glomerulonephritis ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24244623 12115903 NGF nerve growth factor gene DOID:2921 glomerulonephritis ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19169037|REF_RGD_ID:7242783 12115903 NGF nerve growth factor gene DOID:2986 IgA glomerulonephritis ISO RGD:1352304 D RGD:9068941 20200609 RGD DNA:SNP: :rs11102930 (human) PMID:21178826|REF_RGD_ID:7242801 12115903 NGF nerve growth factor gene DOID:3082 interstitial lung disease ISO RGD:1352304 D RGD:9068941 20200609 RGD associated with Sjogren's Syndrome;protein:increased expression:serum: PMID:24691584|REF_RGD_ID:8657022 12115903 NGF nerve growth factor gene DOID:3310 atopic dermatitis ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:17073871|REF_RGD_ID:8657069 12115903 NGF nerve growth factor gene DOID:3393 coronary artery disease ISO RGD:1352304 D RGD:9068941 20200609 RGD PMID:11935372|REF_RGD_ID:1580935 12115903 NGF nerve growth factor gene DOID:3525 middle cerebral artery infarction ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10408807 12115903 NGF nerve growth factor gene DOID:365 bladder disease ISO RGD:10978 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:15448108|REF_RGD_ID:7242800 12115903 NGF nerve growth factor gene DOID:3770 pulmonary fibrosis ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:12917229|REF_RGD_ID:4891121 12115903 NGF nerve growth factor gene DOID:418 systemic scleroderma ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21085492|REF_RGD_ID:5144060 12115903 NGF nerve growth factor gene DOID:431 myofascial pain syndrome ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:17667845|REF_RGD_ID:5144120 12115903 NGF nerve growth factor gene DOID:4483 rhinitis ISO RGD:1352304 D RGD:9068941 20200609 RGD associated with Sinusitis;protein:increased expression:respiratory system mucosa PMID:19958603|REF_RGD_ID:4891064 12115903 NGF nerve growth factor gene DOID:4483 rhinitis ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:10224365|REF_RGD_ID:4891115 12115903 NGF nerve growth factor gene DOID:574 peripheral nervous system disease ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15319252 12115903 NGF nerve growth factor gene DOID:630 genetic disease ISO RGD:1352304 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12115903 NGF nerve growth factor gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023256 12115903 NGF nerve growth factor gene DOID:783 end stage renal disease ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24244623 12115903 NGF nerve growth factor gene DOID:783 end stage renal disease treatment ISO RGD:1352304 D RGD:9068941 20200609 RGD PMID:19169037|REF_RGD_ID:7242783 12115903 NGF nerve growth factor gene DOID:784 chronic kidney disease ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24244623 12115903 NGF nerve growth factor gene DOID:8463 corneal ulcer ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24244623 12115903 NGF nerve growth factor gene DOID:8549 chronic ulcer of skin ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24244623 12115903 NGF nerve growth factor gene DOID:863 nervous system disease ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15093677 12115903 NGF nerve growth factor gene DOID:8947 diabetic retinopathy ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18282491|REF_RGD_ID:7242804 12115903 NGF nerve growth factor gene DOID:90 degenerative disc disease ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:20973063|REF_RGD_ID:5144150 12115903 NGF nerve growth factor gene DOID:9000039 Spinal Cord Injuries ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:12499054|PMID:16915089|REF_RGD_ID:5144069|REF_RGD_ID:5144073 12115903 NGF nerve growth factor gene DOID:9000310 Lung Injury ISO RGD:10978 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:20075049|REF_RGD_ID:5144062 12115903 NGF nerve growth factor gene DOID:9000310 Lung Injury ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20075049 12115903 NGF nerve growth factor gene DOID:9000641 Pain ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:19103210|REF_RGD_ID:2303798 12115903 NGF nerve growth factor gene DOID:9000641 Pain treatment ISO RGD:1352304 D RGD:9068941 20200609 RGD associated with Cystitis, Interstitial PMID:17905097|REF_RGD_ID:7242806 12115903 NGF nerve growth factor gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22871964 12115903 NGF nerve growth factor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:1598328 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:sciatic nerve: PMID:11425916|REF_RGD_ID:8657088 12115903 NGF nerve growth factor gene DOID:9001579 Neurogenic Inflammation ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21570423 12115903 NGF nerve growth factor gene DOID:9002211 Hyperalgesia ISO RGD:10978 D RGD:9068941 20200609 RGD associated with Cystitis PMID:16203088|REF_RGD_ID:7242799 12115903 NGF nerve growth factor gene DOID:9002211 Hyperalgesia ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20457222 12115903 NGF nerve growth factor gene DOID:9002211 Hyperalgesia ISO RGD:1598328 D RGD:9068941 20200609 RGD associated with Cystitis PMID:18448607|REF_RGD_ID:7242803 12115903 NGF nerve growth factor gene DOID:9002211 Hyperalgesia ISO RGD:1598328 D RGD:9068941 20200609 RGD associated with Peripheral Nerve Injuries; PMID:11425916|REF_RGD_ID:8657088 12115903 NGF nerve growth factor gene DOID:9002211 Hyperalgesia treatment ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:22839415|REF_RGD_ID:7242849 12115903 NGF nerve growth factor gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22666365 12115903 NGF nerve growth factor gene DOID:9002362 Hyperkinesis ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1661212 12115903 NGF nerve growth factor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1598328 D RGD:9068941 20200609 RGD protein, mRNA:increased expression:thalamus and cortex, CNS PMID:8866783|REF_RGD_ID:5508386 12115903 NGF nerve growth factor gene DOID:9002955 Nerve Degeneration ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22666365 12115903 NGF nerve growth factor gene DOID:9004610 Acute Lung Injury ISO RGD:10978 D RGD:9068941 20200609 RGD PMID:17673270|REF_RGD_ID:5144065 12115903 NGF nerve growth factor gene DOID:9005372 Inflammation ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10653021 12115903 NGF nerve growth factor gene DOID:9005372 Inflammation ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:19200610|REF_RGD_ID:2303794 12115903 NGF nerve growth factor gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17715210 12115903 NGF nerve growth factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1598328 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:sciatic nerve PMID:19149268|REF_RGD_ID:2303795 12115903 NGF nerve growth factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1598328 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:21136036|REF_RGD_ID:5144144 12115903 NGF nerve growth factor gene DOID:9006190 Chronic Pancreatitis ISO RGD:1598328 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:16098667|REF_RGD_ID:5144071 12115903 NGF nerve growth factor gene DOID:9006646 Metabolic Syndrome ISO RGD:1352304 D RGD:9068941 20200609 RGD PMID:11935372|REF_RGD_ID:1580935 12115903 NGF nerve growth factor gene DOID:9007096 Stroke ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:19061539|REF_RGD_ID:2303801 12115903 NGF nerve growth factor gene DOID:9007730 Burns ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:12133564|REF_RGD_ID:5144074 12115903 NGF nerve growth factor gene DOID:9008482 Congenital Pain Insensitivity ISO RGD:1352304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INSENSITIVITY TO PAIN, CONGENITAL PMID:28492532 12115903 NGF nerve growth factor gene DOID:9008717 Rib Fractures ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:9798454|REF_RGD_ID:5144111 12115903 NGF nerve growth factor gene DOID:9279 hyperhomocysteinemia ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:21044172|REF_RGD_ID:5144149 12115903 NGF nerve growth factor gene DOID:9470 bacterial meningitis ISO RGD:1598328 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus: PMID:22683802|REF_RGD_ID:8655554 12115903 NGF nerve growth factor gene DOID:9743 diabetic neuropathy ISO RGD:1598328 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:sciatic nerve PMID:12469361|REF_RGD_ID:5508379 12115903 NGF nerve growth factor gene DOID:9976 heroin dependence ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17715210 12115908 COL21A1 collagen type XXI alpha 1 chain gene DOID:630 genetic disease ISO RGD:1347782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115908 COL21A1 collagen type XXI alpha 1 chain gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1347782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 12115967 PDCD2 programmed cell death 2 gene DOID:630 genetic disease ISO RGD:733734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115977 AFM afamin gene DOID:3021 acute kidney failure ISO RGD:1352528 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12115977 AFM afamin gene DOID:630 genetic disease ISO RGD:1352528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12115977 AFM afamin gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1352528 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12115977 AFM afamin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352528 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12115977 AFM afamin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1352528 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12115996 PSMC2 proteasome 26S subunit, ATPase 2 gene DOID:0060902 Norman-Roberts syndrome ISO RGD:732979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:10973257|PMID:17124408|PMID:26046367|PMID:28454995|PMID:28492532 12115996 PSMC2 proteasome 26S subunit, ATPase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12115996 PSMC2 proteasome 26S subunit, ATPase 2 gene DOID:630 genetic disease ISO RGD:732979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116012 CCDC170 coiled-coil domain containing 170 gene DOID:630 genetic disease ISO RGD:1322133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116012 CCDC170 coiled-coil domain containing 170 gene DOID:9002239 Estrogen Resistance ISO RGD:1322133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Estrogen resistance syndrome PMID:33116287 12116036 RRP8 ribosomal RNA processing 8 gene DOID:0060041 autism spectrum disorder ISO RGD:1603685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12116036 RRP8 ribosomal RNA processing 8 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12116036 RRP8 ribosomal RNA processing 8 gene DOID:630 genetic disease ISO RGD:1603685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116047 NCOA5 nuclear receptor coactivator 5 gene DOID:2234 focal epilepsy ISO RGD:1317043 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12116047 NCOA5 nuclear receptor coactivator 5 gene DOID:630 genetic disease ISO RGD:1317043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1606790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413734|PMID:24413737 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:0050823 third-degree atrioventricular block ISO RGD:1606790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Third degree atrioventricular block 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1606790 D RGD:9068941 20210910 RGD protein:decreased expression:oral epithelium (human) PMID:24122999|REF_RGD_ID:150429611 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606790 D RGD:7240710 20180130 OMIM 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndrome PMID:25741868 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:1606790 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:23099237|REF_RGD_ID:10450876 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:0050912 colon adenoma ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA:decreased expression:colon (human) PMID:29875879|REF_RGD_ID:150429665 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1606790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:0080188 chronic myelomonocytic leukemia ISO RGD:1606790 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutations, splice-site mutations:multiple PMID:20693430|REF_RGD_ID:11038679 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:10534 stomach cancer disease_progression ISO RGD:1606790 D RGD:9068941 20210910 RGD mRNA, protein:decreased expression:stomach (human) PMID:27027260|REF_RGD_ID:150429612 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:10534 stomach cancer disease_progression ISO RGD:1606790 D RGD:9068941 20210917 RGD associated with Neoplasm Metastasis; human cells in mouse model PMID:31242038|REF_RGD_ID:150429653 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:10534 stomach cancer severity ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA:decreased expression:stomach (human) PMID:31242038|REF_RGD_ID:150429653 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:10534 stomach cancer treatment ISO RGD:1606790 D RGD:9068941 20210917 RGD human cells in mouse model PMID:33058920|REF_RGD_ID:150429654 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:1612 breast cancer ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA:increased expression: Blood, peripheral blood mononuclear cells (human) PMID:30713804|REF_RGD_ID:150429690 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1606790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:2154 nephroblastoma ISO RGD:1606790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephroblastoma PMID:26822237 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:2226 myeloproliferative neoplasm ISO RGD:1606790 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.R686S (c.2058A>T), p.L1340P (c.4019T>C), p.H1868R (c.5603A>G) (human) PMID:19564637|REF_RGD_ID:11038680 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:234 colon adenocarcinoma ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA:increased expression:colorectum, Cancer Stem-like Cells (human) PMID:31057717|REF_RGD_ID:150429686 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1606790 D RGD:9068941 20210917 RGD associated with Lymphatic Metastasis;mRNA:decreased expression:esophagus squamous epithelium (human) PMID:27050164|REF_RGD_ID:150429668 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA:decreased expression:esophagus squamous epithelium (human) PMID:26093090|REF_RGD_ID:11528815 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1606790 D RGD:9068941 20210917 RGD DNA:mutations PMID:26873401|REF_RGD_ID:150429656 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1606790 D RGD:9068941 20210917 RGD DNA:mutations:multiple PMID:32554069|REF_RGD_ID:150429694 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:4450 renal cell carcinoma ISO RGD:1606790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:630 genetic disease ISO RGD:1606790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA:decreased expression:liver (human) PMID:26366235|REF_RGD_ID:150429684 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1606790 D RGD:9068941 20210910 RGD human cells in mouse model PMID:29331390|PMID:33097695|REF_RGD_ID:150429595|REF_RGD_ID:150429597 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA:decreased expression:liver (human) PMID:30070373|REF_RGD_ID:150429689 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA, protein:decreased expression:liver (human) PMID:33097695|REF_RGD_ID:150429597 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA, protein:increased expression:liver (human) PMID:29331390|REF_RGD_ID:150429595 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:8541 Sezary's disease ISO RGD:1606790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1606790 D RGD:9068941 20210910 RGD associated with colorectal cancer; protein:decreased expression:colorectum (human) PMID:33552282|REF_RGD_ID:150429609 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23593118 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:9004253 Immunoblastic Lymphadenopathy ISO RGD:1606790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413737 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:9004473 Monocytosis ISO RGD:1323180 D RGD:9068941 20200609 RGD PMID:24218139|REF_RGD_ID:11038772 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:9004835 Immunodeficiency 75 ISO RGD:1606790 D RGD:7240710 20210113 OMIM 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:9004835 Immunodeficiency 75 ISO RGD:1606790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 75 PMID:20061559|PMID:24315485|PMID:24728327|PMID:25741868|PMID:27834397|PMID:28492532|PMID:30890702|PMID:31827242|PMID:32518946 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1606790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:9005969 Refractory Anemia with Excess of Blasts disease_progression ISO RGD:1606790 D RGD:9068941 20200609 RGD PMID:25200248|REF_RGD_ID:11038682 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1606790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1606790 D RGD:9068941 20200609 RGD DNA:deletions PMID:23389918|REF_RGD_ID:11038681 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1606790 D RGD:9068941 20200609 RGD PMID:25200248|REF_RGD_ID:11038682 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:9256 colorectal cancer ISO RGD:1606790 D RGD:9068941 20210910 RGD associated with Neoplasm Metastasis; mRNA:decreased expression:colorectum (human) PMID:26816554|REF_RGD_ID:150429613 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:9256 colorectal cancer ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA, protein:increased expression:colorectum, CD4 positive T cells (human) PMID:30013992|REF_RGD_ID:150429655 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:9256 colorectal cancer ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA:decreased expression:colon (human) PMID:29875879|REF_RGD_ID:150429665 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:9256 colorectal cancer ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA:increased expression: Blood, peripheral blood mononuclear cells (human) PMID:30713804|REF_RGD_ID:150429690 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:9261 nasopharynx carcinoma severity ISO RGD:1606790 D RGD:9068941 20210910 RGD human cells in mouse model PMID:32774157|REF_RGD_ID:150429610 12116061 TET2 tet methylcytosine dioxygenase 2 gene DOID:9538 multiple myeloma ISO RGD:1606790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12116079 AP3S2 adaptor related protein complex 3 subunit sigma 2 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1350010 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12116079 AP3S2 adaptor related protein complex 3 subunit sigma 2 gene DOID:2717 Bloom syndrome ISO RGD:1350010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12116079 AP3S2 adaptor related protein complex 3 subunit sigma 2 gene DOID:630 genetic disease ISO RGD:1350010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116079 AP3S2 adaptor related protein complex 3 subunit sigma 2 gene DOID:9256 colorectal cancer ISO RGD:1350010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12116079 AP3S2 adaptor related protein complex 3 subunit sigma 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21874001 12116094 EGR2 early growth response 2 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1352442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1 PMID:10369870|PMID:10371530|PMID:10502832|PMID:10762521|PMID:11239949|PMID:11523566|PMID:11545686|PMID:11734543|PMID:12471219|PMID:12525712|PMID:12609493|PMID:15241803|PMID:15947997|PMID:16198564|PMID:17717711|PMID:20301384|PMID:20513111|PMID:22546699|PMID:22734907|PMID:22765307|PMID:25720245|PMID:25741868|PMID:26204789|PMID:26467025|PMID:27013732|PMID:27159987|PMID:27164712|PMID:27422849|PMID:28492532|PMID:30843326|PMID:30889162|PMID:31673878|PMID:31919945|PMID:32376792|PMID:32528171|PMID:32896048|PMID:34169998|PMID:9537424 12116094 EGR2 early growth response 2 gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:1352442 D RGD:7240710 20180425 OMIM 12116094 EGR2 early growth response 2 gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:1352442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dejerine-Sottas disease | ClinVar Annotator: match by term: Dejerine-sottas neuropathy, autosomal dominant PMID:10369870|PMID:10371530|PMID:11523566|PMID:15947997|PMID:16198564|PMID:17717711|PMID:20301384|PMID:22546699|PMID:25741868|PMID:27013732|PMID:27159987|PMID:28492532|PMID:30843326 12116094 EGR2 early growth response 2 gene DOID:0110150 Charcot-Marie-Tooth disease type 1D ISO RGD:1352442 D RGD:7240710 20180130 OMIM 12116094 EGR2 early growth response 2 gene DOID:0110150 Charcot-Marie-Tooth disease type 1D ISO RGD:1352442 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1D | ClinVar Annotator: match by term: HMSN 1D PMID:10369870|PMID:10371530|PMID:10762521|PMID:11239949|PMID:11523566|PMID:11545686|PMID:11734543|PMID:12471219|PMID:12525712|PMID:12609493|PMID:15241803|PMID:15947997|PMID:16198564|PMID:17717711|PMID:20301384|PMID:20513111|PMID:22734907|PMID:22765307|PMID:25720245|PMID:25741868|PMID:26467025|PMID:27159987|PMID:28492532|PMID:31673878|PMID:32376792 12116094 EGR2 early growth response 2 gene DOID:0110195 Charcot-Marie-Tooth disease type 4E ISO RGD:1352442 D RGD:7240710 20180130 OMIM 12116094 EGR2 early growth response 2 gene DOID:0110195 Charcot-Marie-Tooth disease type 4E ISO RGD:1352442 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E PMID:10369870|PMID:17717711|PMID:20301384|PMID:20301641|PMID:25741868|PMID:28492532|PMID:9537424 12116094 EGR2 early growth response 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1352442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10369870|PMID:10371530|PMID:10502832|PMID:10762521|PMID:11239949|PMID:11523566|PMID:11545686|PMID:11734543|PMID:12471219|PMID:12609493|PMID:15241803|PMID:15947997|PMID:16198564|PMID:17717711|PMID:20301384|PMID:20513111|PMID:21149811|PMID:22271166|PMID:22546699|PMID:22734907|PMID:22765307|PMID:25720245|PMID:25741868|PMID:26467025|PMID:27013732|PMID:27159987|PMID:27164712|PMID:27422849|PMID:28492532|PMID:30843326|PMID:31673878|PMID:31919945|PMID:32376792|PMID:32896048|PMID:34169998 12116094 EGR2 early growth response 2 gene DOID:1206 Rett syndrome ISO RGD:1352442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19000991 12116094 EGR2 early growth response 2 gene DOID:12849 autistic disorder ISO RGD:1352442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19000991 12116094 EGR2 early growth response 2 gene DOID:2477 motor peripheral neuropathy ISO RGD:1352442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12116094 EGR2 early growth response 2 gene DOID:2477 motor peripheral neuropathy ISO RGD:1352442 D RGD:9068941 20200609 RGD Dejerine-Sottas neuropathy, OMIM:145900;DNA:point mutation:exon:R359W PMID:12970165|REF_RGD_ID:1601014 12116094 EGR2 early growth response 2 gene DOID:2477 motor peripheral neuropathy ISO RGD:1352442 D RGD:9068941 20200609 RGD congenital hypomyelinating neuropathy, OMIM:605253;DNA:point mutation:exon:I268N PMID:10369870|REF_RGD_ID:1601012 12116094 EGR2 early growth response 2 gene DOID:308 early myoclonic encephalopathy ISO RGD:1352442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy PMID:28492532 12116094 EGR2 early growth response 2 gene DOID:3369 Ewing sarcoma ISO RGD:1352442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26214589 12116094 EGR2 early growth response 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:621608 D RGD:9068941 20200609 RGD PMID:22645329|REF_RGD_ID:10395314 12116094 EGR2 early growth response 2 gene DOID:607 paraplegia ISO RGD:1352442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 12116094 EGR2 early growth response 2 gene DOID:630 genetic disease ISO RGD:1352442 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10762521|PMID:12471219|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30889162|PMID:32376792|PMID:34323022 12116094 EGR2 early growth response 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1352442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12116094 EGR2 early growth response 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1352442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12116094 EGR2 early growth response 2 gene DOID:9008331 Tendon Injuries treatment ISO RGD:621608 D RGD:9068941 20200609 RGD PMID:23519232|REF_RGD_ID:10395300 12116104 ANXA11 annexin A11 gene DOID:0080225 amyotrophic lateral sclerosis type 23 ISO RGD:1320510 D RGD:7240710 20190315 OMIM 12116104 ANXA11 annexin A11 gene DOID:0080225 amyotrophic lateral sclerosis type 23 ISO RGD:1320510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 23 PMID:25741868|PMID:28469040|PMID:28492532|PMID:29650794|PMID:29845112|PMID:30109997|PMID:33087501|PMID:33218681|PMID:34048612|PMID:35047667 12116104 ANXA11 annexin A11 gene DOID:0081121 inclusion body myopathy and brain white matter abnormalities ISO RGD:1320510 D RGD:7240710 20220323 OMIM 12116104 ANXA11 annexin A11 gene DOID:0081121 inclusion body myopathy and brain white matter abnormalities ISO RGD:1320510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy and brain white matter abnormalities PMID:25741868|PMID:28469040|PMID:28492532|PMID:29845112|PMID:33087501|PMID:34048612 12116104 ANXA11 annexin A11 gene DOID:11335 sarcoidosis ISO RGD:1320510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19165924 12116104 ANXA11 annexin A11 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1320510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:17576681|PMID:25741868|PMID:28469040|PMID:28492532|PMID:29650794|PMID:30109997|PMID:33087501|PMID:33218681|PMID:35047667|PMID:9536098 12116104 ANXA11 annexin A11 gene DOID:630 genetic disease ISO RGD:1320510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28469040|PMID:28492532|PMID:29650794|PMID:33087501 12116104 ANXA11 annexin A11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12116122 MYL12B myosin light chain 12B gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1601728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12116122 MYL12B myosin light chain 12B gene DOID:0110880 holoprosencephaly 4 ISO RGD:1601728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 4 PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:22125506|PMID:28492532 12116122 MYL12B myosin light chain 12B gene DOID:1059 intellectual disability ISO RGD:1601728 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12116122 MYL12B myosin light chain 12B gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1601728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12116122 MYL12B myosin light chain 12B gene DOID:630 genetic disease ISO RGD:1601728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116122 MYL12B myosin light chain 12B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12116122 MYL12B myosin light chain 12B gene DOID:9005523 Majeed Syndrome ISO RGD:1601728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Majeed syndrome PMID:28492532 12116130 SPOP speckle type BTB/POZ protein gene DOID:10283 prostate cancer ISO RGD:1323163 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer PMID:23265383|PMID:25741868|PMID:26619011 12116130 SPOP speckle type BTB/POZ protein gene DOID:10534 stomach cancer exacerbates ISO RGD:1323163 D RGD:9068941 20220729 RGD protein:decreased expression:stomach (human) PMID:25204354|REF_RGD_ID:153298922 12116130 SPOP speckle type BTB/POZ protein gene DOID:2526 prostate adenocarcinoma ISO RGD:1323163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:23265383|PMID:26619011 12116130 SPOP speckle type BTB/POZ protein gene DOID:363 uterine cancer ISO RGD:1323163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26619011 12116130 SPOP speckle type BTB/POZ protein gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1323163 D RGD:9068941 20220729 RGD mRNA, protein:increased expression:lung (human) PMID:28927035|REF_RGD_ID:153298923 12116130 SPOP speckle type BTB/POZ protein gene DOID:3910 lung adenocarcinoma ISO RGD:1323163 D RGD:9068941 20220729 RGD mRNA, protein:increased expression:lung (human) PMID:31105033|REF_RGD_ID:153298927 12116130 SPOP speckle type BTB/POZ protein gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1323163 D RGD:9068941 20220729 RGD human gene and cell line in mouse model PMID:30607139|REF_RGD_ID:153298920 12116130 SPOP speckle type BTB/POZ protein gene DOID:630 genetic disease ISO RGD:1323163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32109420 12116130 SPOP speckle type BTB/POZ protein gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1323163 D RGD:9068941 20220729 RGD human cells in mouse model PMID:33209975|REF_RGD_ID:153298924 12116130 SPOP speckle type BTB/POZ protein gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1323163 D RGD:9068941 20220729 RGD mRNA:decreased expression:liver (human) PMID:26156804|REF_RGD_ID:11074965 12116130 SPOP speckle type BTB/POZ protein gene DOID:687 hepatoblastoma ISO RGD:1323163 D RGD:9068941 20220729 RGD mRNA:decreased expression:liver (human) PMID:24912477|REF_RGD_ID:153298925 12116130 SPOP speckle type BTB/POZ protein gene DOID:9001256 Nabais Sa-de Vries Syndrome, Type 1 ISO RGD:1323163 D RGD:7240710 20200520 OMIM 12116130 SPOP speckle type BTB/POZ protein gene DOID:9001256 Nabais Sa-de Vries Syndrome, Type 1 ISO RGD:1323163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and dysmorphic facies PMID:25741868|PMID:32109420 12116130 SPOP speckle type BTB/POZ protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22610119|PMID:29295717|PMID:29610475 12116130 SPOP speckle type BTB/POZ protein gene DOID:9004007 Nabais Sa-de Vries Syndrome, Type 2 ISO RGD:1323163 D RGD:7240710 20200520 OMIM 12116130 SPOP speckle type BTB/POZ protein gene DOID:9004007 Nabais Sa-de Vries Syndrome, Type 2 ISO RGD:1323163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NABAIS SA-DE VRIES SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies PMID:25741868|PMID:32109420 12116130 SPOP speckle type BTB/POZ protein gene DOID:9007715 Endometrial Neoplasms ISO RGD:1323163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 12116130 SPOP speckle type BTB/POZ protein gene DOID:9008138 Ductal Carcinoma ISO RGD:1323163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 12116130 SPOP speckle type BTB/POZ protein gene DOID:9256 colorectal cancer ISO RGD:1323163 D RGD:9068941 20220729 RGD mRNA:decreased expression:colorectum (human) PMID:30171794|REF_RGD_ID:153298926 12116130 SPOP speckle type BTB/POZ protein gene DOID:9256 colorectal cancer exacerbates ISO RGD:1323163 D RGD:9068941 20220729 RGD DNA:hypermethylation:promoter (human) PMID:28032859|REF_RGD_ID:153298921 12116130 SPOP speckle type BTB/POZ protein gene DOID:9256 colorectal cancer exacerbates ISO RGD:1323163 D RGD:9068941 20220729 RGD protein:decreased expression:colorectum (human) PMID:26022775|REF_RGD_ID:11056110 12116150 MOSPD1 motile sperm domain containing 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12116150 MOSPD1 motile sperm domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1347086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12116150 MOSPD1 motile sperm domain containing 1 gene DOID:630 genetic disease ISO RGD:1347086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:736157 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:0050788 proximal symphalangism ISO RGD:736157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger PMID:28492532 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:736157 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:1332354 D RGD:9068941 20200609 RGD PMID:29505790|REF_RGD_ID:19165131 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:0080957 primary hypoalphalipoproteinemia 1 ISO RGD:736157 D RGD:7240710 20180802 OMIM 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:0080957 primary hypoalphalipoproteinemia 1 ISO RGD:736157 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Familial high density lipoprotein deficiency disease | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 PMID:10431237|PMID:10706591|PMID:10938021|PMID:11238261|PMID:11257261|PMID:11476965|PMID:11940086|PMID:12009425|PMID:12054535|PMID:12111381|PMID:12204794|PMID:12624133|PMID:12763760|PMID:15019541|PMID:15262183|PMID:15297675|PMID:15486467|PMID:15520867|PMID:15790791|PMID:15935359|PMID:16226177|PMID:16343503|PMID:16372134|PMID:16429166|PMID:16704350|PMID:16806540|PMID:16855366|PMID:16873719|PMID:17113061|PMID:17303779|PMID:17383594|PMID:18199144|PMID:18354102|PMID:18523221|PMID:18776170|PMID:19133158|PMID:19202195|PMID:19596329|PMID:19743957|PMID:20011639|PMID:20093111|PMID:20418488|PMID:20427018|PMID:20595220|PMID:20656214|PMID:20800056|PMID:20880529|PMID:20981092|PMID:21315358|PMID:21575609|PMID:21860089|PMID:21875686|PMID:22923419|PMID:22923420|PMID:22959828|PMID:22995991|PMID:23087442|PMID:23136402|PMID:23139370|PMID:23152888|PMID:23376243|PMID:23559627|PMID:23685560|PMID:23770607|PMID:24036952|PMID:24456889|PMID:24497850|PMID:24503134|PMID:24894453|PMID:25215231|PMID:25741868|PMID:26073400|PMID:26079414|PMID:26255038|PMID:26350511|PMID:27884173|PMID:28492532|PMID:28634189|PMID:28870971|PMID:29083407|PMID:29224928|PMID:29535370|PMID:30333156|PMID:30795984|PMID:31973102|PMID:32041611|PMID:34906502|PMID:35460704|PMID:7945562 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:10652 Alzheimer's disease ISO RGD:736157 D RGD:9068941 20200609 RGD PMID:15024730|REF_RGD_ID:1300323 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:10787 premature menopause ISO RGD:631344 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, jejunum (rat) PMID:24619822|REF_RGD_ID:19165129 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:10976 membranous glomerulonephritis ISO RGD:631344 D RGD:9068941 20200609 RGD PMID:12507911|REF_RGD_ID:1598547 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:1168 familial hyperlipidemia ISO RGD:631344 D RGD:9068941 20200609 RGD PMID:17026988|REF_RGD_ID:1598533 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:1168 familial hyperlipidemia treatment ISO RGD:631344 D RGD:9068941 20200609 RGD PMID:23185768|REF_RGD_ID:21408557 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:12236 primary biliary cholangitis ISO RGD:736157 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:28660384|REF_RGD_ID:21203516 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:631344 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver, basolateral plasma membrane (rat) PMID:28660384|REF_RGD_ID:21203516 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:13810 familial hypercholesterolemia ISO RGD:736157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:19743957|PMID:20800056|PMID:24497850|PMID:25215231|PMID:25741868|PMID:28492532 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:1387 hypolipoproteinemia ISO RGD:736157 D RGD:9068941 20200609 RGD PMID:11086027|REF_RGD_ID:1600951 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:1388 Tangier disease ISO RGD:736157 D RGD:7240710 20180130 OMIM 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:1388 Tangier disease ISO RGD:736157 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease PMID:10431236|PMID:10431237|PMID:10535983|PMID:10706591|PMID:10938021|PMID:11238261|PMID:11257261|PMID:11476961|PMID:11476965|PMID:11940086|PMID:12111381|PMID:12204794|PMID:12624133|PMID:12702168|PMID:12763760|PMID:15262183|PMID:15297675|PMID:15486467|PMID:15520867|PMID:15790791|PMID:15935359|PMID:16226177|PMID:16343503|PMID:16372134|PMID:16429166|PMID:16806540|PMID:16855366|PMID:16873719|PMID:17113061|PMID:17303779|PMID:17383594|PMID:18199144|PMID:18354102|PMID:18523221|PMID:18776170|PMID:19133158|PMID:19202195|PMID:19596329|PMID:19743957|PMID:20011639|PMID:20093111|PMID:20418488|PMID:20427018|PMID:20595220|PMID:20656214|PMID:20800056|PMID:20880529|PMID:20981092|PMID:21315358|PMID:21860089|PMID:21875686|PMID:22923419|PMID:22923420|PMID:22995991|PMID:23087442|PMID:23139370|PMID:23152888|PMID:23376243|PMID:23559627|PMID:23685560|PMID:23770607|PMID:24036952|PMID:24097981|PMID:24456889|PMID:24497850|PMID:24503134|PMID:24894453|PMID:25215231|PMID:25741868|PMID:26255038|PMID:26350511|PMID:27884173|PMID:28492532|PMID:28870971|PMID:29224928|PMID:29535370|PMID:30333156|PMID:30795984|PMID:31973102|PMID:32041611|PMID:35460704 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:1936 atherosclerosis ISO RGD:736157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22022523 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:3393 coronary artery disease ISO RGD:736157 D RGD:9068941 20200609 RGD PMID:11086027|REF_RGD_ID:1600951 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:3459 breast carcinoma ISO RGD:736157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:28492532 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:3571 liver cancer severity ISO RGD:1332354 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (mouse) PMID:30580964|REF_RGD_ID:24922199 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:574 peripheral nervous system disease ISO RGD:736157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:630 genetic disease ISO RGD:736157 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19743957|PMID:20800056|PMID:24497850|PMID:25215231|PMID:25741868|PMID:28492532 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:631344 D RGD:9068941 20200609 RGD PMID:16941710|REF_RGD_ID:1598532 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:736157 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:30580964|REF_RGD_ID:24922199 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:783 end stage renal disease ISO RGD:736157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9000528 Coronary Disease ISO RGD:736157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary heart disease in familial hypercholesterolemia, protection against | ClinVar Annotator: match by term: Early-onset coronary artery disease PMID:11238261|PMID:12624133|PMID:16372134|PMID:16429166|PMID:25741868|PMID:28492532 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:631344 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, jejunum (rat) PMID:24619822|REF_RGD_ID:19165129 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:736157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22022523 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9002117 Hypoalphalipoproteinemias ISO RGD:736157 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease PMID:10431237|PMID:10706591|PMID:10938021|PMID:11238261|PMID:11257261|PMID:12624133|PMID:12763760|PMID:15019541|PMID:15297675|PMID:15486467|PMID:15520867|PMID:15790791|PMID:15935359|PMID:16226177|PMID:16343503|PMID:16372134|PMID:16429166|PMID:16704350|PMID:16806540|PMID:16855366|PMID:16873719|PMID:17303779|PMID:17383594|PMID:18523221|PMID:18776170|PMID:19202195|PMID:19596329|PMID:19743957|PMID:20011639|PMID:20418488|PMID:20427018|PMID:20800056|PMID:20880529|PMID:20981092|PMID:21315358|PMID:21575609|PMID:21860089|PMID:21875686|PMID:22923420|PMID:22959828|PMID:22995991|PMID:23136402|PMID:23139370|PMID:23152888|PMID:23559627|PMID:23685560|PMID:23770607|PMID:24036952|PMID:24497850|PMID:24894453|PMID:25215231|PMID:25741868|PMID:26073400|PMID:26079414|PMID:26255038|PMID:26350511|PMID:27884173|PMID:28492532|PMID:28634189|PMID:28870971|PMID:29083407|PMID:30333156|PMID:7945562 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9002189 High Myopia ISO RGD:736157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:736157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Reduced delayed hypersensitivity PMID:28492532 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:736157 D RGD:9068941 20200609 RGD DNA:SNP:introns:(rs3890182, rs1883025) (human) PMID:28164591|REF_RGD_ID:21066337 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9005369 Hepatomegaly ISO RGD:1332354 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (mouse) PMID:25217640|REF_RGD_ID:21408550 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:736157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:736157 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R230C (rs9282541) (human) PMID:17287470|REF_RGD_ID:1601092 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:736157 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R230C (rs9282541) (human) PMID:18003760|REF_RGD_ID:2312576 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9452 fatty liver disease ISO RGD:631344 D RGD:9068941 20200609 RGD PMID:15995177|REF_RGD_ID:1598534 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9452 fatty liver disease treatment ISO RGD:1332354 D RGD:9068941 20200609 RGD PMID:26362727|REF_RGD_ID:21408552 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9452 fatty liver disease treatment ISO RGD:1332354 D RGD:9068941 20200609 RGD associated with adult growth hormone deficiency PMID:30130150|REF_RGD_ID:18936993 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9970 obesity disease_progression ISO RGD:631344 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25612518|REF_RGD_ID:15045599 12116164 ABCA1 ATP binding cassette subfamily A member 1 gene DOID:9970 obesity susceptibility ISO RGD:736157 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R230C (rs9282541) (human) PMID:17287470|REF_RGD_ID:1601092 12116220 REST RE1 silencing transcription factor gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1347756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:28492532 12116220 REST RE1 silencing transcription factor gene DOID:0080280 gingival fibromatosis 5 ISO RGD:1347756 D RGD:7240710 20230517 OMIM 12116220 REST RE1 silencing transcription factor gene DOID:0080280 gingival fibromatosis 5 ISO RGD:1347756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FIBROMATOSIS, GINGIVAL, HEREDITARY, 5 | ClinVar Annotator: match by term: Fibromatosis, gingival, 5 PMID:25741868|PMID:28492532|PMID:28686854|PMID:33719663 12116220 REST RE1 silencing transcription factor gene DOID:0110556 autosomal dominant nonsyndromic deafness 27 ISO RGD:1347756 D RGD:7240710 20230517 OMIM 12116220 REST RE1 silencing transcription factor gene DOID:0110556 autosomal dominant nonsyndromic deafness 27 ISO RGD:1347756 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 27 PMID:25741868|PMID:28492532|PMID:29961578|PMID:34828371 12116220 REST RE1 silencing transcription factor gene DOID:2154 nephroblastoma ISO RGD:1347756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551668 12116220 REST RE1 silencing transcription factor gene DOID:630 genetic disease ISO RGD:1347756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12116220 REST RE1 silencing transcription factor gene DOID:9003873 Gingival Fibromatosis 1 ISO RGD:1347756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibromatosis, gingival, 1 PMID:28492532|PMID:28686854 12116220 REST RE1 silencing transcription factor gene DOID:9007268 Wilms Tumor 6 ISO RGD:1347756 D RGD:7240710 20230517 OMIM 12116220 REST RE1 silencing transcription factor gene DOID:9007268 Wilms Tumor 6 ISO RGD:1347756 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wilms tumor 6 PMID:25741868|PMID:26551668|PMID:28492532 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1347407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21317887 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:0080490 mucolipidosis type IV ISO RGD:1347407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1347407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:10283 prostate cancer ISO RGD:1347407 D RGD:9068941 20220922 RGD mRNA:splice variant:exon 2: (human) PMID:32601196|REF_RGD_ID:155230826 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:10534 stomach cancer ISO RGD:1347407 D RGD:9068941 20220922 RGD mRNA:splice variant:exon 2: (human) PMID:32601196|REF_RGD_ID:155230826 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:11054 urinary bladder cancer ISO RGD:1347407 D RGD:9068941 20220922 RGD mRNA:splice variant:exon 2: (human) PMID:32601196|REF_RGD_ID:155230826 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:1107 esophageal carcinoma exacerbates ISO RGD:1347407 D RGD:9068941 20221020 RGD mRNA:decreased expression:espohagus (human) PMID:32831056|REF_RGD_ID:155630592 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:1612 breast cancer ISO RGD:1347407 D RGD:9068941 20220922 RGD mRNA:splice variant:exon 2: (human) PMID:32601196|REF_RGD_ID:155230826 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:1612 breast cancer exacerbates ISO RGD:1557151 D RGD:9068941 20220923 RGD PMID:21317887|REF_RGD_ID:155249848 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:219 colon cancer ISO RGD:1347407 D RGD:9068941 20220922 RGD mRNA:splice variant:exon 2: (human) PMID:32601196|REF_RGD_ID:155230826 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:234 colon adenocarcinoma ISO RGD:1347407 D RGD:9068941 20221020 RGD human cell line and gene in a mouse model PMID:18436711|REF_RGD_ID:155630593 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:2596 larynx cancer ameliorates ISO RGD:1347407 D RGD:9068941 20220923 RGD mRNA:increased expression:larynx (human) PMID:32791689|REF_RGD_ID:155256869 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:3905 lung carcinoma exacerbates ISO RGD:1347407 D RGD:9068941 20220923 RGD DNA:missense mutation:CDS:p.E116K (human) PMID:27028764|REF_RGD_ID:11529413 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1557151 D RGD:9068941 20220923 RGD mRNA:decreased expression:lung (human) PMID:31089135|REF_RGD_ID:155253742 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1557151 D RGD:9068941 20220923 RGD PMID:21317887|REF_RGD_ID:155249848 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1347407 D RGD:9068941 20220922 RGD DNA:SNP:3' utr: (rs3679) (human) PMID:27861856|REF_RGD_ID:155230827 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1347407 D RGD:9068941 20220922 RGD human gene in a mouse model PMID:34236045|REF_RGD_ID:155230828 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:5419 schizophrenia ISO RGD:1557151 D RGD:9068941 20220825 MouseDO OMIM:181500 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:6000 congestive heart failure ISO RGD:1347407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21284947 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:630 genetic disease ISO RGD:1347407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:769 neuroblastoma ISO RGD:1347407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:8634 prostate carcinoma in situ disease_progression ISO RGD:1347407 D RGD:9068941 20200609 RGD protein:increased expression PMID:17577251|REF_RGD_ID:2293334 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:9000784 Fibrosis ISO RGD:1347407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21284947 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347407 D RGD:9068941 20200609 RGD protein:increased expression:tumor:increased in high-grade prostatic intraepithelial neoplasias and tumor tissues (p<0.0001) PMID:17577251|REF_RGD_ID:2293334 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1557151 D RGD:9068941 20200609 RGD protein:increased expression:tumor:increased in high-grade prostatic intraepithelial neoplasias and tumor tissues (p<0.0001) PMID:17577251|REF_RGD_ID:2293334 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1557151 D RGD:9068941 20200609 RGD expression inhibits metastatic colonization of secondary sites by cancer cells in the AT6.1 model system PMID:16322247|REF_RGD_ID:2293337 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:9002762 Ovarian Neoplasms no_association ISO RGD:1557151 D RGD:9068941 20200609 RGD expression has no effect on metastatic colonization of secondary sites by cancer cells in the SKOV3ip.1 cell line model system PMID:16489030|REF_RGD_ID:2293338 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:9005172 Lung Neoplasms ISO RGD:1347407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21317887 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21317887 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:9006618 Liver Metastasis ISO RGD:1347407 D RGD:9068941 20220923 RGD associated with colon cancer;protein:increased expression:colon (human) PMID:24533778|REF_RGD_ID:155259116 12116231 MAP2K7 mitogen-activated protein kinase kinase 7 gene DOID:9008939 Breast Neoplasms ISO RGD:1347407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21317887 12116254 OLR1 oxidized low density lipoprotein receptor 1 gene DOID:0050700 cardiomyopathy ISO RGD:731042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16055083 12116254 OLR1 oxidized low density lipoprotein receptor 1 gene DOID:10763 hypertension ISO RGD:620515 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta (rat) PMID:9494115|REF_RGD_ID:633385 12116254 OLR1 oxidized low density lipoprotein receptor 1 gene DOID:10763 hypertension ISO RGD:731042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 12116254 OLR1 oxidized low density lipoprotein receptor 1 gene DOID:3393 coronary artery disease severity ISO RGD:731042 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.K167N (human) PMID:15562935|REF_RGD_ID:1580994 12116254 OLR1 oxidized low density lipoprotein receptor 1 gene DOID:3393 coronary artery disease severity ISO RGD:731042 D RGD:9068941 20200609 RGD DNA:snp:3' utr:T>C (human) PMID:12810610|REF_RGD_ID:1580995 12116254 OLR1 oxidized low density lipoprotein receptor 1 gene DOID:5844 myocardial infarction ISO RGD:731042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:12646194|PMID:12810610|PMID:14684693 12116254 OLR1 oxidized low density lipoprotein receptor 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:731042 D RGD:7240710 20190502 OMIM 12116254 OLR1 oxidized low density lipoprotein receptor 1 gene DOID:6000 congestive heart failure ISO RGD:731042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 12116254 OLR1 oxidized low density lipoprotein receptor 1 gene DOID:630 genetic disease ISO RGD:731042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116254 OLR1 oxidized low density lipoprotein receptor 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:731042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12116254 OLR1 oxidized low density lipoprotein receptor 1 gene DOID:783 end stage renal disease ISO RGD:620515 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (rat) PMID:12661921|REF_RGD_ID:1580992 12116254 OLR1 oxidized low density lipoprotein receptor 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:620515 D RGD:9068941 20200609 RGD PMID:12384456|REF_RGD_ID:628368 12116254 OLR1 oxidized low density lipoprotein receptor 1 gene DOID:9246 cerebral amyloid angiopathy ISO RGD:731042 D RGD:9068941 20200609 RGD PMID:16328515|REF_RGD_ID:1580993 12116268 LTB4R2 leukotriene B4 receptor 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1353949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12116268 LTB4R2 leukotriene B4 receptor 2 gene DOID:630 genetic disease ISO RGD:1353949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116268 LTB4R2 leukotriene B4 receptor 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1353949 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12116268 LTB4R2 leukotriene B4 receptor 2 gene DOID:9004610 Acute Lung Injury severity ISO RGD:732977 D RGD:9068941 20210108 RGD associated with Endotoxemia PMID:27703200|REF_RGD_ID:40903067 12116268 LTB4R2 leukotriene B4 receptor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1353949 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12116283 STARD3 StAR related lipid transfer domain containing 3 gene DOID:630 genetic disease ISO RGD:1347857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116283 STARD3 StAR related lipid transfer domain containing 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347857 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:17592021 12116316 LOC607460 pancreatic alpha-amylase gene DOID:12849 autistic disorder ISO RGD:732589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12116316 LOC607460 pancreatic alpha-amylase gene DOID:1826 epilepsy ISO RGD:732589 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12116316 LOC607460 pancreatic alpha-amylase gene DOID:630 genetic disease ISO RGD:732589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116317 GNB5 G protein subunit beta 5 gene DOID:0081008 intellectual developmental disorder with cardiac arrhythmia ISO RGD:731985 D RGD:7240710 20190315 OMIM 12116317 GNB5 G protein subunit beta 5 gene DOID:0081008 intellectual developmental disorder with cardiac arrhythmia ISO RGD:731985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gnb5-related intellectual disability-cardiac arrhythmia syndrome PMID:21766168|PMID:25741868|PMID:25741873|PMID:27523599|PMID:27677260|PMID:28492532|PMID:29368331|PMID:30631341|PMID:31130284|PMID:31631344|PMID:32203251|PMID:32280589|PMID:32987464|PMID:33172956|PMID:33176815 12116317 GNB5 G protein subunit beta 5 gene DOID:0111406 Fraser syndrome 3 ISO RGD:731985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 12116317 GNB5 G protein subunit beta 5 gene DOID:2717 Bloom syndrome ISO RGD:731985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12116317 GNB5 G protein subunit beta 5 gene DOID:607 paraplegia ISO RGD:731985 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 12116317 GNB5 G protein subunit beta 5 gene DOID:630 genetic disease ISO RGD:731985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21766168|PMID:25741868|PMID:27523599|PMID:27677260|PMID:28492532|PMID:30631341|PMID:31130284|PMID:31631344|PMID:33172956|PMID:33176815 12116317 GNB5 G protein subunit beta 5 gene DOID:9000267 LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA ISO RGD:731985 D RGD:7240710 20190315 OMIM 12116317 GNB5 G protein subunit beta 5 gene DOID:9000267 LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA ISO RGD:731985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia PMID:25741868|PMID:27523599|PMID:27677260|PMID:30631341|PMID:31130284|PMID:33176815 12116317 GNB5 G protein subunit beta 5 gene DOID:9008086 Developmental Disabilities ISO RGD:731985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741873|PMID:27523599|PMID:27677260|PMID:30631341|PMID:31130284|PMID:33172956|PMID:33176815 12116317 GNB5 G protein subunit beta 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 12116317 GNB5 G protein subunit beta 5 gene DOID:9256 colorectal cancer ISO RGD:731985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12116331 C20H3orf84 chromosome 20 C3orf84 homolog gene DOID:0060852 Pierson syndrome ISO RGD:7254257 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 12116331 C20H3orf84 chromosome 20 C3orf84 homolog gene DOID:630 genetic disease ISO RGD:7254257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116331 C20H3orf84 chromosome 20 C3orf84 homolog gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:7254257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:0080100 congenital myopathy ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Batten-Turner congenital myopathy PMID:25741868 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal hypotonia improving with age PMID:25326635|PMID:25741868 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:0081295 essential tremor 6 ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor, hereditary essential, 6 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:0110682 congenital myasthenic syndrome 16 ISO RGD:732165 D RGD:7240710 20180130 OMIM 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:0110682 congenital myasthenic syndrome 16 ISO RGD:732165 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 16 | ClinVar Annotator: match by term: Congenital myasthenic syndrome, acetazolamide-responsive PMID:10206477|PMID:10218481|PMID:11744749|PMID:12766226|PMID:12872329|PMID:12898257|PMID:1310898|PMID:14518676|PMID:14617673|PMID:15534250|PMID:15596759|PMID:15774523|PMID:15790667|PMID:17334961|PMID:17576681|PMID:18046642|PMID:18166706|PMID:18337100|PMID:18337730|PMID:18414213|PMID:19052238|PMID:19065518|PMID:19201608|PMID:19225109|PMID:19770477|PMID:19840739|PMID:20076800|PMID:20445432|PMID:20522878|PMID:20681998|PMID:20981092|PMID:21220685|PMID:22653516|PMID:22926674|PMID:23516313|PMID:23589580|PMID:23771340|PMID:23810313|PMID:23884711|PMID:24682880|PMID:25326635|PMID:25483584|PMID:25707578|PMID:25724373|PMID:25741868|PMID:25839108|PMID:26220970|PMID:26423924|PMID:26467025|PMID:26659129|PMID:26700687|PMID:26834636|PMID:27199537|PMID:27415035|PMID:27714768|PMID:27858759|PMID:28325641|PMID:28492532|PMID:29605429|PMID:29606556|PMID:29790872|PMID:30038349|PMID:30390395|PMID:30611854|PMID:30647473|PMID:31567646|PMID:32026975|PMID:32276507|PMID:32528171|PMID:32533946|PMID:32670189|PMID:32801145|PMID:32849172|PMID:33146414|PMID:33325393|PMID:35037686|PMID:7533571|PMID:7695243|PMID:7809121|PMID:8044656|PMID:8583225|PMID:8740371|PMID:8910215|PMID:9130156|PMID:9266738|PMID:9392583|PMID:9536098 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:0110986 Joubert Syndrome 17 ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:18046642|PMID:20981092|PMID:25741868|PMID:28492532|PMID:7695243|PMID:9266738 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:0111538 paramyotonia congenita of Von Eulenburg ISO RGD:732165 D RGD:7240710 20180425 OMIM 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:0111538 paramyotonia congenita of Von Eulenburg ISO RGD:732165 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Paramyotonia congenita of Von Eulenburg | ClinVar Annotator: match by term: Von Eulenburg paramyotonia congenita PMID:10206477|PMID:10218481|PMID:10227633|PMID:10369308|PMID:10727489|PMID:11744749|PMID:11971097|PMID:12483017|PMID:12552059|PMID:12562902|PMID:12872329|PMID:12898257|PMID:1310898|PMID:1316765|PMID:14518676|PMID:14617673|PMID:14635102|PMID:15318338|PMID:15389891|PMID:15534250|PMID:15596759|PMID:15774523|PMID:15790667|PMID:16392038|PMID:16624558|PMID:16786525|PMID:16801039|PMID:16832098|PMID:17334961|PMID:17576681|PMID:17823953|PMID:17998485|PMID:18033047|PMID:18046642|PMID:18166706|PMID:18337100|PMID:18337730|PMID:18414213|PMID:18690054|PMID:19015483|PMID:19015492|PMID:19052238|PMID:19201608|PMID:19770477|PMID:19840739|PMID:20076800|PMID:20301669|PMID:20445432|PMID:20522878|PMID:20681998|PMID:20713951|PMID:20981092|PMID:21220685|PMID:21317558|PMID:21490317|PMID:21520339|PMID:22094069|PMID:22250216|PMID:22257501|PMID:22507243|PMID:22643347|PMID:22653516|PMID:22926674|PMID:23417379|PMID:23589580|PMID:23771340|PMID:23810313|PMID:23884711|PMID:23958773|PMID:24324661|PMID:24939454|PMID:25088311|PMID:25311598|PMID:25483584|PMID:25724373|PMID:25741868|PMID:25755818|PMID:25839108|PMID:26036855|PMID:26080010|PMID:26220970|PMID:26423924|PMID:26467025|PMID:26484179|PMID:2649440|PMID:26494408|PMID:26834636|PMID:26885337|PMID:26944947|PMID:27199537|PMID:27415035|PMID:27486940|PMID:27714768|PMID:27858759|PMID:28024841|PMID:28150151|PMID:28325641|PMID:28492532|PMID:28779239|PMID:29605429|PMID:29606556|PMID:29774303|PMID:29790872|PMID:30028520|PMID:30038349|PMID:30390395|PMID:30611854|PMID:30647473|PMID:31127727|PMID:31567646|PMID:32026975|PMID:32276507|PMID:32528171|PMID:32660787|PMID:32670189|PMID:32849172|PMID:33263785|PMID:33325393|PMID:7473241|PMID:7533571|PMID:7676326|PMID:7695243|PMID:7809121|PMID:7965854|PMID:7980103|PMID:8005599|PMID:8044656|PMID:8110459|PMID:8242056|PMID:8308722|PMID:8388676|PMID:8580427|PMID:8583225|PMID:8740371|PMID:8833340|PMID:8902732|PMID:8910215|PMID:9130156|PMID:9266738|PMID:9392583|PMID:9508833|PMID:9536098|PMID:9660885|PMID:9771789 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:0112103 Sotos syndrome 1 ISO RGD:732165 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:10366610|PMID:11309455|PMID:12933953|PMID:15534250|PMID:15583983|PMID:15642860|PMID:1659948|PMID:16870577|PMID:17395131|PMID:18166706|PMID:19077043|PMID:2173143|PMID:22253644|PMID:23473731|PMID:25741868|PMID:26256659|PMID:26467025|PMID:28492532|PMID:28662944|PMID:30172468|PMID:30647473|PMID:30931713|PMID:34008892|PMID:7809121|PMID:8044656|PMID:8388676|PMID:8985730|PMID:9886942 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:10907 microcephaly ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:732165 D RGD:7240710 20180130 OMIM 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:732165 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adynamia episodica hereditaria with or without myotonia | ClinVar Annotator: match by term: Gamstorp disease | ClinVar Annotator: match by term: Gamstorp episodic adynamy | ClinVar Annotator: match by term: Hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Paramyotonia congenita/hyperkalemic periodic paralysis | ClinVar Annotator: match by term: SODIUM CHANNEL MUSCLE DISEASE PMID:10200418|PMID:10206477|PMID:10218481|PMID:10227633|PMID:10366610|PMID:10381583|PMID:10599760|PMID:10851391|PMID:10944223|PMID:11102465|PMID:11309455|PMID:11422459|PMID:11558801|PMID:11591859|PMID:11723275|PMID:11744749|PMID:11757950|PMID:11912116|PMID:11971097|PMID:12483017|PMID:12552059|PMID:12562902|PMID:12766226|PMID:12872329|PMID:12898257|PMID:12933953|PMID:1310898|PMID:1316765|PMID:1338909|PMID:14504341|PMID:14518676|PMID:14557559|PMID:14617673|PMID:14635102|PMID:15318338|PMID:15389891|PMID:15482957|PMID:15534250|PMID:15557532|PMID:15583983|PMID:15596759|PMID:15642860|PMID:15645704|PMID:15774523|PMID:15790667|PMID:16199547|PMID:16392038|PMID:1659668|PMID:1659948|PMID:16624558|PMID:16786525|PMID:16801039|PMID:16832098|PMID:16870577|PMID:16890191|PMID:17212350|PMID:17330043|PMID:17334961|PMID:17395131|PMID:17576681|PMID:17823953|PMID:17898326|PMID:17998485|PMID:18033047|PMID:18041053|PMID:18046642|PMID:18162704|PMID:18166706|PMID:18203179|PMID:18317596|PMID:18337100|PMID:18337730|PMID:18414213|PMID:18690054|PMID:18824591|PMID:19015492|PMID:19052238|PMID:19065518|PMID:19077043|PMID:19118277|PMID:1918277|PMID:19201608|PMID:19221125|PMID:19225109|PMID:19290024|PMID:19770477|PMID:19840739|PMID:19876661|PMID:19882638|PMID:20038812|PMID:20076800|PMID:20301669|PMID:20445432|PMID:20495927|PMID:20522878|PMID:20660662|PMID:20681998|PMID:20713951|PMID:20981092|PMID:21189962|PMID:21220685|PMID:21221019|PMID:21317558|PMID:21387378|PMID:21404612|PMID:21490317|PMID:21520339|PMID:21664816|PMID:21665479|PMID:21665951|PMID:21698652|PMID:21708955|PMID:2173143|PMID:21841462|PMID:21881211|PMID:22094069|PMID:22106717|PMID:22250216|PMID:22253644|PMID:22253645|PMID:22257501|PMID:22507243|PMID:22643347|PMID:22653516|PMID:22914841|PMID:22926674|PMID:23019082|PMID:23417379|PMID:23473731|PMID:23516313|PMID:23589580|PMID:23771340|PMID:23801527|PMID:23810313|PMID:23884711|PMID:23958773|PMID:24324661|PMID:24549961|PMID:24682880|PMID:24714718|PMID:24778431|PMID:24939454|PMID:24943082|PMID:25024265|PMID:25088311|PMID:25213595|PMID:25311598|PMID:25326635|PMID:25348630|PMID:25454733|PMID:25483584|PMID:25660391|PMID:25707578|PMID:25724373|PMID:25735906|PMID:25741868|PMID:25755818|PMID:25839108|PMID:25961944|PMID:26036855|PMID:26080010|PMID:26220970|PMID:26252573|PMID:26256659|PMID:26423924|PMID:26427606|PMID:26467025|PMID:26484179|PMID:2649440|PMID:26494408|PMID:26633542|PMID:26659129|PMID:26700687|PMID:26834636|PMID:26865514|PMID:26885337|PMID:26944947|PMID:26986070|PMID:27060299|PMID:27104891|PMID:27164696|PMID:27199537|PMID:27415035|PMID:27486940|PMID:27714768|PMID:27858759|PMID:27922499|PMID:28024841|PMID:28150151|PMID:28262468|PMID:28325641|PMID:28330959|PMID:28492532|PMID:28662944|PMID:28779239|PMID:28877545|PMID:28940424|PMID:29111379|PMID:29391559|PMID:29419865|PMID:29451154|PMID:29605429|PMID:29606556|PMID:29774303|PMID:29790872|PMID:29930533|PMID:29946067|PMID:29991727|PMID:30028520|PMID:30038349|PMID:30172468|PMID:30283817|PMID:30390395|PMID:30611854|PMID:30647473|PMID:30824560|PMID:30931713|PMID:31068157|PMID:31127727|PMID:31492720|PMID:31567646|PMID:31609695|PMID:31732390|PMID:31772215|PMID:32026975|PMID:32066100|PMID:32117035|PMID:32129495|PMID:32276507|PMID:32411069|PMID:32528171|PMID:32533946|PMID:32594687|PMID:32660787|PMID:32670189|PMID:32801145|PMID:32849172|PMID:33123387|PMID:33146414|PMID:33263785|PMID:33325393|PMID:33343696|PMID:33573884|PMID:33670307|PMID:33726816|PMID:33965302|PMID:34008892|PMID:34378097|PMID:34418069|PMID:34608571|PMID:35037686|PMID:7473241|PMID:7533571|PMID:7676326|PMID:7689382|PMID:7695243|PMID:7767090|PMID:7809121|PMID:7965854|PMID:7980103|PMID:8005599|PMID:8044656|PMID:8058156|PMID:8110459|PMID:8242056|PMID:8308722|PMID:8382500|PMID:8388676|PMID:8542048|PMID:8580427|PMID:8583225|PMID:8619545|PMID:8740371|PMID:8833340|PMID:8902732|PMID:8910215|PMID:8985730|PMID:9130156|PMID:9131651|PMID:9266738|PMID:9339683|PMID:9392583|PMID:9508833|PMID:9536098|PMID:9660885|PMID:9771789|PMID:9886942 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:14452 hypokalemic periodic paralysis ISO RGD:732165 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: HypoPP | ClinVar Annotator: match by term: Hypokalemic periodic paralysis PMID:10206477|PMID:10218481|PMID:11744749|PMID:12872329|PMID:1310898|PMID:14518676|PMID:14617673|PMID:15790667|PMID:17334961|PMID:17576681|PMID:18166706|PMID:18337100|PMID:18337730|PMID:19770477|PMID:19840739|PMID:20445432|PMID:21220685|PMID:22653516|PMID:23589580|PMID:23771340|PMID:23810313|PMID:25483584|PMID:25724373|PMID:25741868|PMID:25839108|PMID:26467025|PMID:26834636|PMID:27199537|PMID:27415035|PMID:27922499|PMID:28325641|PMID:28492532|PMID:29391559|PMID:29790872|PMID:29946067|PMID:30611854|PMID:30647473|PMID:31567646|PMID:32026975|PMID:32276507|PMID:32849172|PMID:7533571|PMID:7809121|PMID:8044656|PMID:8583225|PMID:8740371|PMID:8910215|PMID:9130156|PMID:9392583|PMID:9536098 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:2106 myotonia congenita ISO RGD:732165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1316765 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:2234 focal epilepsy ISO RGD:732165 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:11723275|PMID:1338909|PMID:20076800|PMID:22926674|PMID:25741868|PMID:26467025|PMID:28330959|PMID:28492532|PMID:32849172|PMID:34418069|PMID:7809121 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:3635 congenital myasthenic syndrome ISO RGD:732165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:12766226|PMID:25741868|PMID:26659129|PMID:28492532 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:423 myopathy ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:15596759|PMID:18046642|PMID:19052238|PMID:19065518|PMID:19201608|PMID:19225109|PMID:22926674|PMID:23516313|PMID:24682880|PMID:25326635|PMID:25741868|PMID:25839108|PMID:26467025|PMID:28492532 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:450 myotonic disease ISO RGD:732165 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Paramyotonia congenita/myotonia congenita PMID:10682917|PMID:11744749|PMID:1338909|PMID:23771340|PMID:25741868|PMID:26467025|PMID:7980103|PMID:9618291|PMID:9660885 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:630 genetic disease ISO RGD:732165 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10851391|PMID:11723275|PMID:1338909|PMID:14557559|PMID:17898326|PMID:18337100|PMID:18337730|PMID:20076800|PMID:21221019|PMID:22926674|PMID:25454733|PMID:25741868|PMID:26467025|PMID:26633542|PMID:26700687|PMID:26986070|PMID:27164696|PMID:28330959|PMID:28492532|PMID:29451154|PMID:29606556|PMID:32849172|PMID:34418069|PMID:7809121 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:9000884 Rhabdomyolysis ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:12562902|PMID:1316765|PMID:18166706|PMID:18337730|PMID:22507243|PMID:25741868|PMID:26467025|PMID:27415035|PMID:28492532|PMID:28779239|PMID:7676326|PMID:7809121|PMID:8005599|PMID:8110459 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:9001333 Hypokalemic Periodic Paralysis, Type 2 ISO RGD:732165 D RGD:7240710 20180130 OMIM 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:9001333 Hypokalemic Periodic Paralysis, Type 2 ISO RGD:732165 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 2 PMID:10206477|PMID:10218481|PMID:10366610|PMID:10599760|PMID:10851391|PMID:10944223|PMID:11102465|PMID:11309455|PMID:11558801|PMID:11591859|PMID:11744749|PMID:11912116|PMID:12872329|PMID:12898257|PMID:12933953|PMID:1310898|PMID:14504341|PMID:14518676|PMID:14557559|PMID:14617673|PMID:15482957|PMID:15534250|PMID:15557532|PMID:15583983|PMID:15596759|PMID:15642860|PMID:15645704|PMID:15774523|PMID:15790667|PMID:1659948|PMID:16624558|PMID:16870577|PMID:16890191|PMID:17330043|PMID:17334961|PMID:17395131|PMID:17576681|PMID:17898326|PMID:18041053|PMID:18046642|PMID:18162704|PMID:18166706|PMID:18337100|PMID:18337730|PMID:18414213|PMID:18824591|PMID:19077043|PMID:19118277|PMID:1918277|PMID:19225109|PMID:19770477|PMID:19840739|PMID:19882638|PMID:20445432|PMID:20522878|PMID:20660662|PMID:20681998|PMID:20981092|PMID:21189962|PMID:21220685|PMID:21221019|PMID:21490317|PMID:21665951|PMID:2173143|PMID:21841462|PMID:21881211|PMID:22253644|PMID:22253645|PMID:22653516|PMID:23019082|PMID:23473731|PMID:23516313|PMID:23589580|PMID:23771340|PMID:23810313|PMID:23884711|PMID:24549961|PMID:25024265|PMID:25213595|PMID:25454733|PMID:25483584|PMID:25724373|PMID:25741868|PMID:25755818|PMID:25839108|PMID:26220970|PMID:26252573|PMID:26256659|PMID:26423924|PMID:26467025|PMID:26834636|PMID:26986070|PMID:27164696|PMID:27199537|PMID:27415035|PMID:27714768|PMID:27858759|PMID:28325641|PMID:28492532|PMID:28662944|PMID:29419865|PMID:29451154|PMID:29605429|PMID:29606556|PMID:29790872|PMID:29991727|PMID:30038349|PMID:30172468|PMID:30390395|PMID:30611854|PMID:30647473|PMID:30931713|PMID:31567646|PMID:31772215|PMID:32026975|PMID:32066100|PMID:32276507|PMID:32528171|PMID:32660787|PMID:32670189|PMID:32849172|PMID:33325393|PMID:34008892|PMID:7533571|PMID:7695243|PMID:7809121|PMID:7965854|PMID:8044656|PMID:8242056|PMID:8388676|PMID:8583225|PMID:8740371|PMID:8910215|PMID:8985730|PMID:9130156|PMID:9266738|PMID:9392583|PMID:9536098|PMID:9771789|PMID:9886942 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:732165 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:10206477|PMID:10218481|PMID:10366610|PMID:10944223|PMID:11309455|PMID:11558801|PMID:11723275|PMID:11744749|PMID:11912116|PMID:12483017|PMID:12552059|PMID:12562902|PMID:12872329|PMID:12898257|PMID:12933953|PMID:1310898|PMID:1316765|PMID:1338909|PMID:14504341|PMID:14518676|PMID:14617673|PMID:14635102|PMID:15318338|PMID:15482957|PMID:15534250|PMID:15583983|PMID:15596759|PMID:15642860|PMID:15774523|PMID:15790667|PMID:16392038|PMID:1659668|PMID:1659948|PMID:16801039|PMID:16832098|PMID:16870577|PMID:17330043|PMID:17334961|PMID:17395131|PMID:17576681|PMID:18033047|PMID:18046642|PMID:18162704|PMID:18166706|PMID:18317596|PMID:18337100|PMID:18337730|PMID:18824591|PMID:19077043|PMID:19118277|PMID:1918277|PMID:19225109|PMID:19290024|PMID:19770477|PMID:19840739|PMID:20076800|PMID:20301669|PMID:20445432|PMID:20660662|PMID:20713951|PMID:20981092|PMID:21189962|PMID:21220685|PMID:21317558|PMID:21387378|PMID:21404612|PMID:21490317|PMID:21520339|PMID:21665479|PMID:21665951|PMID:21708955|PMID:2173143|PMID:21841462|PMID:22253644|PMID:22253645|PMID:22653516|PMID:22926674|PMID:23019082|PMID:23417379|PMID:23473731|PMID:23516313|PMID:23589580|PMID:23771340|PMID:23801527|PMID:23810313|PMID:23958773|PMID:24549961|PMID:24714718|PMID:24943082|PMID:25024265|PMID:25088311|PMID:25213595|PMID:25311598|PMID:25326635|PMID:25348630|PMID:25483584|PMID:25724373|PMID:25741868|PMID:25839108|PMID:25961944|PMID:26036855|PMID:26080010|PMID:26252573|PMID:26256659|PMID:26423924|PMID:26427606|PMID:26467025|PMID:26484179|PMID:26834636|PMID:26944947|PMID:27199537|PMID:27415035|PMID:27714768|PMID:27858759|PMID:27922499|PMID:28024841|PMID:28325641|PMID:28330959|PMID:28492532|PMID:28662944|PMID:29391559|PMID:29419865|PMID:29605429|PMID:29606556|PMID:29774303|PMID:29790872|PMID:29930533|PMID:29946067|PMID:29991727|PMID:30028520|PMID:30038349|PMID:30172468|PMID:30390395|PMID:30611854|PMID:30647473|PMID:30931713|PMID:31068157|PMID:31127727|PMID:31567646|PMID:31772215|PMID:32026975|PMID:32066100|PMID:32276507|PMID:32660787|PMID:32670189|PMID:32849172|PMID:33146414|PMID:33263785|PMID:33325393|PMID:34008892|PMID:34418069|PMID:7473241|PMID:7533571|PMID:7689382|PMID:7695243|PMID:7767090|PMID:7809121|PMID:7980103|PMID:8005599|PMID:8044656|PMID:8058156|PMID:8110459|PMID:8242056|PMID:8308722|PMID:8382500|PMID:8388676|PMID:8583225|PMID:8740371|PMID:8833340|PMID:8910215|PMID:8985730|PMID:9130156|PMID:9131651|PMID:9266738|PMID:9339683|PMID:9392583|PMID:9536098|PMID:9886942 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:9005532 Muscle Weakness ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:9005884 Potassium Aggravated Myotonia ISO RGD:732165 D RGD:7240710 20180130 OMIM 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:9005884 Potassium Aggravated Myotonia ISO RGD:732165 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Myotonia congenita, acetazolamide-responsive | ClinVar Annotator: match by term: Myotonia congenita, atypical, acetazolamide-responsive | ClinVar Annotator: match by term: Myotonia fluctuans | ClinVar Annotator: match by term: Potassium-aggravated myotonia PMID:10206477|PMID:10218481|PMID:10682917|PMID:11744749|PMID:12562902|PMID:12872329|PMID:12898257|PMID:1310898|PMID:1316765|PMID:1338909|PMID:14518676|PMID:14617673|PMID:15037716|PMID:15534250|PMID:15774523|PMID:15790667|PMID:16392038|PMID:16624558|PMID:16786525|PMID:16832098|PMID:17334961|PMID:17576681|PMID:17823953|PMID:18046642|PMID:18166706|PMID:18337100|PMID:18337730|PMID:18414213|PMID:19770477|PMID:19840739|PMID:20076800|PMID:20445432|PMID:20522878|PMID:20681998|PMID:20713951|PMID:20981092|PMID:21220685|PMID:22094069|PMID:22507243|PMID:22653516|PMID:22759684|PMID:23589580|PMID:23771340|PMID:23810313|PMID:23884711|PMID:23958773|PMID:25088311|PMID:25311598|PMID:25483584|PMID:25724373|PMID:25741868|PMID:25755818|PMID:25839108|PMID:26080010|PMID:26220970|PMID:26423924|PMID:26467025|PMID:26834636|PMID:26885337|PMID:26944947|PMID:27199537|PMID:27415035|PMID:27714768|PMID:27858759|PMID:28150151|PMID:28325641|PMID:28492532|PMID:28779239|PMID:28877545|PMID:29605429|PMID:29606556|PMID:29774303|PMID:29790872|PMID:30038349|PMID:30390395|PMID:30611854|PMID:30647473|PMID:31567646|PMID:32026975|PMID:32276507|PMID:32528171|PMID:32660787|PMID:32670189|PMID:32849172|PMID:33263785|PMID:33325393|PMID:3822145|PMID:7473241|PMID:7533571|PMID:7676326|PMID:7695243|PMID:7809121|PMID:7965854|PMID:7980103|PMID:8005599|PMID:8044656|PMID:8058156|PMID:8110459|PMID:8242056|PMID:8308722|PMID:8583225|PMID:8740371|PMID:8910215|PMID:9130156|PMID:9266738|PMID:9336185|PMID:9392583|PMID:9536098|PMID:9618291|PMID:9660885|PMID:9771789 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:9006585 Congenital Myopathy 22 ISO RGD:732165 D RGD:7240710 20230517 OMIM 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:9007 sudden infant death syndrome ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:9007141 Normokalemic Periodic Paralysis, Potassium-Sensitive ISO RGD:732165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Normokalemic periodic paralysis, potassium-sensitive PMID:15596759|PMID:18046642|PMID:19052238|PMID:19065518|PMID:19201608|PMID:19225109|PMID:22926674|PMID:23516313|PMID:24682880|PMID:25326635|PMID:25741868|PMID:25839108|PMID:26467025|PMID:28492532|PMID:29606556 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:9007674 Keppen-Lubinsky Syndrome ISO RGD:732165 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keppen-Lubinsky syndrome PMID:25741868|PMID:28492532 12116347 SCN4A sodium voltage-gated channel alpha subunit 4 gene DOID:9008993 Myotonia ISO RGD:732165 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myotonia PMID:25741868|PMID:26467025|PMID:27922499|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33573884 12116388 SSC5D scavenger receptor cysteine rich family member with 5 domains gene DOID:630 genetic disease ISO RGD:1604711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116407 PPP1R13L protein phosphatase 1 regulatory subunit 13 like gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1617213 D RGD:9068941 20220825 MouseDO 12116407 PPP1R13L protein phosphatase 1 regulatory subunit 13 like gene DOID:0050737 autosomal recessive disease ISO RGD:1617213 D RGD:9068941 20220825 MouseDO 12116407 PPP1R13L protein phosphatase 1 regulatory subunit 13 like gene DOID:1240 leukemia ISO RGD:1347285 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19299014 12116407 PPP1R13L protein phosphatase 1 regulatory subunit 13 like gene DOID:12930 dilated cardiomyopathy ISO RGD:1347285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28069640 12116407 PPP1R13L protein phosphatase 1 regulatory subunit 13 like gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:1347285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardio-cutaneous syndrome PMID:28069640 12116407 PPP1R13L protein phosphatase 1 regulatory subunit 13 like gene DOID:630 genetic disease ISO RGD:1347285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:21325069 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:737039 D RGD:9068941 20220114 RGD DNA:hypermethylation: : PMID:20658957|REF_RGD_ID:11251750 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0060058 lymphoma ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:9488045 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma disease_progression ISO RGD:737039 D RGD:9068941 20220114 RGD DNA:deletion (human) PMID:20118908|REF_RGD_ID:8552306 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0060071 pre-malignant neoplasm ISO RGD:2323 D RGD:9068941 20220114 RGD DNA:hypermethylation PMID:12547284|REF_RGD_ID:1600820 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0060071 pre-malignant neoplasm ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:24991542 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0060221 Maffucci syndrome ISO RGD:737039 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maffucci syndrome PMID:11687599|PMID:12532425|PMID:12538475|PMID:16234564|PMID:16818274|PMID:16896043|PMID:17218939|PMID:17255954|PMID:18519632|PMID:19690981|PMID:21150883|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25980754|PMID:26104880|PMID:26225579|PMID:26467025|PMID:26681309|PMID:27621404|PMID:27756164|PMID:27960642|PMID:28492532|PMID:28726808|PMID:28765326|PMID:7718873|PMID:8710906|PMID:9166859|PMID:9416844 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0060282 persistent hyperplastic primary vitreous ISO RGD:10322 D RGD:9068941 20220114 RGD PMID:16620915|REF_RGD_ID:8552304 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0080001 bone disease ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:30259626 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:10322 D RGD:9068941 20220114 RGD PMID:21622646|REF_RGD_ID:11251772 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0080630 B-lymphoblastic leukemia/lymphoma susceptibility ISO RGD:737039 D RGD:9068941 20220114 RGD DNA:mutation:cds:c.442C>T,p.A148T,rs3731249 (human) PMID:26104880|REF_RGD_ID:11057958 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0080630 B-lymphoblastic leukemia/lymphoma treatment ISO RGD:10322 D RGD:9068941 20220114 RGD PMID:16618932|REF_RGD_ID:11251751 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0111511 melanoma and neural system tumor syndrome ISO RGD:737039 D RGD:7240710 20220112 OMIM 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:0111511 melanoma and neural system tumor syndrome ISO RGD:737039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Melanoma and neural system tumor syndrome PMID:10389768|PMID:10667595|PMID:10719365|PMID:10738302|PMID:11136714|PMID:11687599|PMID:15075790|PMID:16234564|PMID:16397522|PMID:16818274|PMID:16896043|PMID:17218939|PMID:17713569|PMID:18025365|PMID:18335566|PMID:18337833|PMID:18519632|PMID:19523171|PMID:20093296|PMID:21085193|PMID:21462282|PMID:22440936|PMID:24733792|PMID:25078331|PMID:25741868|PMID:25780468|PMID:25980754|PMID:26467025|PMID:26670561|PMID:26681309|PMID:26775776|PMID:27756164|PMID:27960642|PMID:28454591|PMID:28492532|PMID:28640387|PMID:28765326|PMID:28830827|PMID:30207590|PMID:30339520|PMID:31567591|PMID:31921681|PMID:32191290|PMID:33823155|PMID:35001868|PMID:7566978|PMID:7647780|PMID:7718873|PMID:7881419|PMID:7987387|PMID:8570179|PMID:8573142|PMID:8653684|PMID:8727306|PMID:9166859|PMID:9389568|PMID:9916806 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:10041 dysplastic nevus syndrome ISO RGD:737039 D RGD:9068941 20220114 RGD DNA:missense mutation:exon:p.P48L (human) PMID:10338331|REF_RGD_ID:8552302 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:10283 prostate cancer ISO RGD:737039 D RGD:9068941 20220114 RGD DNA:hypermethylation:promoter PMID:16483154|REF_RGD_ID:2289685 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:10283 prostate cancer disease_progression ISO RGD:737039 D RGD:9068941 20220114 RGD protein:increased expression:prostate gland PMID:16799475|REF_RGD_ID:2289684 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:10534 stomach cancer ISO RGD:737039 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:22804906|PMID:25741868|PMID:28492532|PMID:36988593 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:10763 hypertension ISO RGD:2323 D RGD:9068941 20220114 RGD protein:increased expression:kidney PMID:18504326|REF_RGD_ID:2316082 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:10763 hypertension ISO RGD:737039 D RGD:9068941 20220114 RGD protein:increased expression:kidney PMID:18504326|REF_RGD_ID:2316082 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:11054 urinary bladder cancer ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12973940|PMID:15987713 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:11054 urinary bladder cancer ISO RGD:737039 D RGD:9068941 20220114 RGD DNA:deletion PMID:15897688|REF_RGD_ID:2289687 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:11054 urinary bladder cancer ISO RGD:737039 D RGD:9068941 20220114 RGD DNA:hypermethylation:promoter PMID:17119258|REF_RGD_ID:2296052 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:11054 urinary bladder cancer ISO RGD:737039 D RGD:9068941 20220114 RGD protein:increased expression:urinary bladder PMID:18234280|REF_RGD_ID:2296048 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:1107 esophageal carcinoma ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:25741868|PMID:26619011|PMID:28492532 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:11166 papillomavirus infectious disease ISO RGD:737039 D RGD:9068941 20220114 RGD associated with Cervical Intraepithelial Neoplasms;protein:increased expression:uterine cervix PMID:16415792|REF_RGD_ID:2296057 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:11166 papillomavirus infectious disease ISO RGD:737039 D RGD:9068941 20220114 RGD associated with Cervix Neoplasms;protein:increased expression:uterine cervix PMID:16406113|REF_RGD_ID:2296058 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:1240 leukemia ISO RGD:737039 D RGD:9068941 20220114 RGD DNA:hypermethylation PMID:8631003|REF_RGD_ID:8548743 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:1324 lung cancer ISO RGD:737039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:10498896|PMID:10892805|PMID:18803811|PMID:21462282|PMID:22841127|PMID:25741868|PMID:28492532|PMID:7777061|PMID:9751050 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:1380 endometrial cancer ISO RGD:2323 D RGD:9068941 20220114 RGD DNA:deletions:exon (rat) PMID:18558284|REF_RGD_ID:2316081 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:14566 disease of cellular proliferation ISO RGD:737039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:10360174|PMID:10491434|PMID:10498896|PMID:10874641|PMID:12606942|PMID:15146471|PMID:16234564|PMID:16374456|PMID:16896043|PMID:16905682|PMID:17255954|PMID:18573309|PMID:18983535|PMID:19523171|PMID:21085193|PMID:21462282|PMID:21801156|PMID:22841127|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26650189|PMID:26681309|PMID:28492532|PMID:31775759|PMID:7780957|PMID:7987387|PMID:8521414|PMID:8668202|PMID:9132280|PMID:9324288 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:1612 breast cancer susceptibility ISO RGD:737039 D RGD:9068941 20220114 RGD DNA:insertion:cds:p.R112_L113insR (human) PMID:10922411|REF_RGD_ID:8552383 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:1686 glaucoma ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:21532571 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:1749 squamous cell carcinoma ISO RGD:10322 D RGD:9068941 20220114 RGD DNA:transitions: :multiple PMID:15057871|REF_RGD_ID:8552295 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:1749 squamous cell carcinoma ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:25125259 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:1790 malignant mesothelioma ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:19223589|PMID:21526190|PMID:29112861 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:1793 pancreatic cancer ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:10627132|PMID:26098869 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:1793 pancreatic cancer ISO RGD:737039 D RGD:9068941 20220114 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:1909 melanoma ISO RGD:737039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10389768|PMID:10491434|PMID:10508477|PMID:10738302|PMID:10869234|PMID:11078762|PMID:11358797|PMID:11477665|PMID:11500805|PMID:11579459|PMID:11687599|PMID:11807902|PMID:12001124|PMID:12072543|PMID:12606942|PMID:14679123|PMID:15140233|PMID:15146471|PMID:16234564|PMID:16397522|PMID:16818274|PMID:16896043|PMID:16905682|PMID:17397031|PMID:17576681|PMID:17713569|PMID:17992122|PMID:18025365|PMID:18205010|PMID:18337833|PMID:18519632|PMID:18573309|PMID:19260062|PMID:19360740|PMID:19523171|PMID:20093296|PMID:20340136|PMID:20505745|PMID:21462282|PMID:21507037|PMID:21609436|PMID:21801156|PMID:24336570|PMID:24659262|PMID:25157968|PMID:25356972|PMID:25741868|PMID:25780468|PMID:26381259|PMID:26467025|PMID:26619011|PMID:26658419|PMID:26681309|PMID:26775776|PMID:27181379|PMID:27756164|PMID:27960642|PMID:28146043|PMID:28492532|PMID:28592523|PMID:28765326|PMID:28830827|PMID:29915805|PMID:29983899|PMID:30291219|PMID:30306255|PMID:30742731|PMID:31382929|PMID:31567591|PMID:31775759|PMID:7566978|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7881419|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8153634|PMID:8521414|PMID:8552158|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8653684|PMID:8668202|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:9053859|PMID:9166859|PMID:9324288|PMID:9328469|PMID:9425228|PMID:9536098|PMID:9660926|PMID:9710613|PMID:9751050|PMID:9823374|PMID:9856841|PMID:9916806 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:1909 melanoma susceptibility ISO RGD:737039 D RGD:9068941 20220114 RGD DNA:point mutation, insertion:exon PMID:9168184|REF_RGD_ID:1600812 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:1967 leiomyosarcoma ISO RGD:737039 D RGD:9068941 20220114 RGD associated with Myometrial Neoplasms;protein:increased expression:myometrium PMID:18156978|REF_RGD_ID:2296049 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:2154 nephroblastoma ISO RGD:737039 D RGD:9068941 20220114 RGD protein:increased expression:kidney PMID:17369505|REF_RGD_ID:2289679 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:224 transient cerebral ischemia ISO RGD:10322 D RGD:9068941 20220114 RGD protein:decreased expression:striatum, neuron PMID:11438580|REF_RGD_ID:8552691 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:2394 ovarian cancer ISO RGD:737039 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:17047042|PMID:19260062|PMID:20340316|PMID:21462282|PMID:22841127|PMID:24660985|PMID:25741868|PMID:26104880|PMID:28492532|PMID:30548481|PMID:35001868|PMID:9425228 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:2526 prostate adenocarcinoma ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:25741868|PMID:26619011|PMID:28492532 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:2671 transitional cell carcinoma ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:10491434|PMID:16234564|PMID:16896043|PMID:21462282|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7780957|PMID:8521414|PMID:9324288 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:737039 D RGD:9068941 20220114 RGD DNA:hypermethylation:promoter PMID:16316628|REF_RGD_ID:2289686 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:299 adenocarcinoma ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:20135361 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:2999 granulosa cell tumor ISO RGD:737039 D RGD:9068941 20220114 RGD PMID:12203782|REF_RGD_ID:2296066 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3008 invasive ductal carcinoma ISO RGD:737039 D RGD:9068941 20220114 RGD DNA:hypermethylation:promoter:breast, serum PMID:17383681|REF_RGD_ID:2289677 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3068 glioblastoma treatment ISO RGD:737039 D RGD:9068941 20220114 RGD PMID:10720483|REF_RGD_ID:8552659 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3070 high grade glioma ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:15814359|PMID:19578367 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3070 high grade glioma disease_progression ISO RGD:737039 D RGD:9068941 20220114 RGD DNA:deletions PMID:11314047|REF_RGD_ID:8552305 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737039 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35303175 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3192 neurilemmoma ISO RGD:737039 D RGD:9068941 20220114 RGD DNA,protein:deletion,decreased expression: : PMID:10595918|REF_RGD_ID:1358481 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3247 rhabdomyosarcoma ISO RGD:2323 D RGD:9068941 20220114 RGD DNA, mRNA:hypermethylation, decreased expression:promoter, skeletal muscle PMID:21565688|REF_RGD_ID:8552662 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3275 thymoma ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:24974848 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3304 germinoma ISO RGD:737039 D RGD:9068941 20220114 RGD DNA:transition:exon:142G>A PMID:9554401|REF_RGD_ID:2289698 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3347 osteosarcoma ISO RGD:737039 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Osteoblastic osteosarcoma PMID:10389768|PMID:10667595|PMID:10719365|PMID:11687599|PMID:15075790|PMID:16234564|PMID:16818274|PMID:16896043|PMID:17218939|PMID:18335566|PMID:18519632|PMID:21085193|PMID:21462282|PMID:22440936|PMID:24733792|PMID:25078331|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26670561|PMID:26681309|PMID:27756164|PMID:27960642|PMID:28454591|PMID:28492532|PMID:28640387|PMID:28765326|PMID:28830827|PMID:30207590|PMID:30339520|PMID:31921681|PMID:32191290|PMID:33823155|PMID:35001868|PMID:7566978|PMID:7647780|PMID:7718873|PMID:7987387|PMID:8573142|PMID:9166859|PMID:9389568 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:24986516 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3717 gastric adenocarcinoma ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10491434|PMID:11477665|PMID:11500805|PMID:11687599|PMID:12072543|PMID:16234564|PMID:16896043|PMID:16905682|PMID:17576681|PMID:18573309|PMID:21462282|PMID:25157968|PMID:25356972|PMID:25741868|PMID:26619011|PMID:26681309|PMID:26775776|PMID:28492532|PMID:28830827|PMID:29983899|PMID:7780957|PMID:8521414|PMID:8595405|PMID:8723678|PMID:9324288|PMID:9536098|PMID:9751050|PMID:9823374 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3717 gastric adenocarcinoma ISO RGD:737039 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10491434|PMID:11477665|PMID:11500805|PMID:11687599|PMID:12072543|PMID:16234564|PMID:16896043|PMID:16905682|PMID:17576681|PMID:18573309|PMID:21462282|PMID:25157968|PMID:25356972|PMID:25741868|PMID:26619011|PMID:26681309|PMID:26775776|PMID:28492532|PMID:28830827|PMID:29983899|PMID:7780957|PMID:8521414|PMID:8573142|PMID:8595405|PMID:8723678|PMID:9324288|PMID:9536098|PMID:9751050|PMID:9823374 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3721 plasmacytoma ISO RGD:10322 D RGD:9068941 20220114 RGD PMID:11113205|REF_RGD_ID:11251742 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3907 lung squamous cell carcinoma ISO RGD:737039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:10498896|PMID:11078762|PMID:11358797|PMID:11477665|PMID:11500805|PMID:11687599|PMID:12072543|PMID:12606942|PMID:15140233|PMID:15146471|PMID:15235029|PMID:15860862|PMID:16354195|PMID:16905682|PMID:17576681|PMID:17992122|PMID:18024887|PMID:18573309|PMID:20505745|PMID:21325014|PMID:21462282|PMID:21507037|PMID:22841127|PMID:24336570|PMID:25157968|PMID:25356972|PMID:25741868|PMID:25780468|PMID:26619011|PMID:26681309|PMID:26775776|PMID:28146043|PMID:28492532|PMID:28592523|PMID:28830827|PMID:29983899|PMID:30291219|PMID:30742731|PMID:7777060|PMID:7777061|PMID:8552400|PMID:8573142|PMID:8595405|PMID:8668202|PMID:8723678|PMID:8755727|PMID:8834170|PMID:9053859|PMID:9328469|PMID:9536098|PMID:9660926|PMID:9710613|PMID:9751050|PMID:9823374|PMID:9856841 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3908 lung non-small cell carcinoma ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:18337602|PMID:19375815 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3910 lung adenocarcinoma ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:10491434|PMID:16234564|PMID:16896043|PMID:21462282|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7780957|PMID:8521414|PMID:9324288 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:3948 adrenocortical carcinoma ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:24747642 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:4074 pancreatic adenocarcinoma ISO RGD:737039 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:10491434|PMID:11477665|PMID:11500805|PMID:11687599|PMID:12072543|PMID:16234564|PMID:16896043|PMID:16905682|PMID:17576681|PMID:18573309|PMID:21462282|PMID:25157968|PMID:25356972|PMID:25741868|PMID:26619011|PMID:26681309|PMID:26775776|PMID:28492532|PMID:28830827|PMID:29983899|PMID:7780957|PMID:8521414|PMID:8573142|PMID:8595405|PMID:8723678|PMID:9324288|PMID:9536098|PMID:9751050|PMID:9823374 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:4450 renal cell carcinoma ISO RGD:2323 D RGD:9068941 20220114 RGD DNA:gene instability PMID:11839561|REF_RGD_ID:1298747 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:4450 renal cell carcinoma ISO RGD:737039 D RGD:9068941 20220114 RGD DNA, protein:hypermethylation, increased expression:promoter, kidney PMID:15232742|REF_RGD_ID:2289699 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:4450 renal cell carcinoma ISO RGD:737039 D RGD:9068941 20220114 RGD DNA:deletion PMID:17201148|REF_RGD_ID:2289680 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:4465 papillary renal cell carcinoma ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:25741868|PMID:26619011|PMID:28492532 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:4488 sarcomatoid mesothelioma ISO RGD:2323 D RGD:9068941 20220114 RGD DNA:deletion PMID:20065947|REF_RGD_ID:7248760 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:4905 pancreatic carcinoma susceptibility ISO RGD:737039 D RGD:9068941 20220114 RGD DNA:insertion:cds:p.R112_L113insR (human) PMID:10922411|REF_RGD_ID:8552383 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:4914 esophagus adenocarcinoma ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:4947 cholangiocarcinoma onset ISO RGD:737039 D RGD:9068941 20220114 RGD protein:decreased expression:liver PMID:15619210|REF_RGD_ID:2317417 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:5419 schizophrenia ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:737039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:10491434|PMID:11078762|PMID:11358797|PMID:11477665|PMID:11500805|PMID:11687599|PMID:12072543|PMID:12606942|PMID:15140233|PMID:15146471|PMID:16234564|PMID:16374456|PMID:16818274|PMID:16896043|PMID:16905682|PMID:17576681|PMID:17992122|PMID:18205010|PMID:18519632|PMID:18573309|PMID:20505745|PMID:21462282|PMID:21507037|PMID:21609436|PMID:21801156|PMID:24336570|PMID:25157968|PMID:25356972|PMID:25741868|PMID:26619011|PMID:26681309|PMID:26775776|PMID:27756164|PMID:27960642|PMID:28146043|PMID:28492532|PMID:28765326|PMID:28830827|PMID:29915805|PMID:29983899|PMID:30291219|PMID:30742731|PMID:31382929|PMID:31775759|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:8153634|PMID:8521414|PMID:8573142|PMID:8595405|PMID:8668202|PMID:8723678|PMID:8755727|PMID:8834170|PMID:9053859|PMID:9166859|PMID:9324288|PMID:9328469|PMID:9536098|PMID:9660926|PMID:9710613|PMID:9751050|PMID:9823374|PMID:9856841 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:5520 head and neck squamous cell carcinoma disease_progression ISO RGD:737039 D RGD:9068941 20220114 RGD DNA:SNPs: :rs3731217, rs3088440 (human) PMID:21381012|REF_RGD_ID:8552291 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:10322 D RGD:9068941 20220114 RGD PMID:19759355|PMID:23178376|REF_RGD_ID:11251744|REF_RGD_ID:11251774 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:737039 D RGD:9068941 20220114 RGD PMID:17507663|REF_RGD_ID:11251765 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:737039 D RGD:9068941 20220114 RGD DNA:deletion, missense, nonsense mutations:cds: PMID:8637233|REF_RGD_ID:11251776 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:5603 T-cell acute lymphoblastic leukemia disease_progression ISO RGD:10322 D RGD:9068941 20220114 RGD PMID:16407836|REF_RGD_ID:11251741 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:574 peripheral nervous system disease ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:23872714 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6171 uterine carcinosarcoma disease_progression ISO RGD:737039 D RGD:9068941 20220114 RGD PMID:16803529|REF_RGD_ID:2296053 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:630 genetic disease ISO RGD:737039 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10389768|PMID:10508477|PMID:10869234|PMID:11579459|PMID:11807902|PMID:12001124|PMID:14679123|PMID:15146471|PMID:16818274|PMID:17397031|PMID:18519632|PMID:19260062|PMID:19360740|PMID:20340136|PMID:21462282|PMID:21801156|PMID:24659262|PMID:25741868|PMID:26381259|PMID:26467025|PMID:26658419|PMID:26681309|PMID:26775776|PMID:27181379|PMID:27756164|PMID:27960642|PMID:28146043|PMID:28492532|PMID:28592523|PMID:28765326|PMID:7566978|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8552158|PMID:8668202|PMID:8755727|PMID:9166859|PMID:9324288|PMID:9425228 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:684 hepatocellular carcinoma ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA PMID:10491434|PMID:14508519|PMID:16234564|PMID:16896043|PMID:21462282|PMID:25157968|PMID:25741868|PMID:25780468|PMID:26225579|PMID:26467025|PMID:26619011|PMID:28492532|PMID:7780957|PMID:8521414|PMID:9185756|PMID:9324288 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:684 hepatocellular carcinoma severity ISO RGD:737039 D RGD:9068941 20220114 RGD Protein:decreased expression:liver PMID:16317707|REF_RGD_ID:1600816 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:7240710 20220112 OMIM 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12175554|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12673200|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14584079|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18519632|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21614589|PMID:21619050|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23757202|PMID:23897584|PMID:24033266|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26104880|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29263814|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29758216|PMID:29774366|PMID:29922827|PMID:29983899|PMID:30038052|PMID:30086788|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31382929|PMID:31775759|PMID:31921681|PMID:32113160|PMID:32191290|PMID:33322357|PMID:33823155|PMID:7566978|PMID:7569991|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9366518|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10070944|PMID:10229204|PMID:10338331|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12118338|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12673200|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14508519|PMID:14584079|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18519632|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21614589|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23757202|PMID:23897584|PMID:24033266|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26104880|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:26775776|PMID:26800492|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28830827|PMID:28830923 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29263814|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29758216|PMID:29774366|PMID:29922827|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31382929|PMID:31775759|PMID:31921681|PMID:32113160|PMID:32191290|PMID:33322357|PMID:33823155|PMID:7566978|PMID:7569991|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10070944|PMID:10229204|PMID:10338331|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12118338|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12673200|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14508519|PMID:14584079|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18519632|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21614589|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23757202|PMID:23897584|PMID:24033266|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26104880|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:26775776|PMID:26800492|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:28767289|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29263814|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29758216|PMID:29774366|PMID:29922827|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31382929|PMID:31775759|PMID:31921681|PMID:32113160|PMID:32191290|PMID:33322357|PMID:33823155|PMID:33945383|PMID:35001868|PMID:7566978|PMID:7569991|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10070944|PMID:10229204|PMID:10338331|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12118338|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12673200|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14508519|PMID:14584079|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18519632|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21614589|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23757202|PMID:23897584|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26104880|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29263814|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29758216|PMID:29774366|PMID:29922827|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31382929|PMID:31775759|PMID:31921681|PMID:32113160|PMID:32191290|PMID:33309985|PMID:33322357|PMID:33823155|PMID:33945383|PMID:35001868|PMID:7566978|PMID:7569991|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10070944|PMID:10229204|PMID:10338331|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12118338|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12673200|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14584079|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069952|PMID:35001868|PMID:5001868|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34426522|PMID:35001868|PMID:5001868|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26557774|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34426522|PMID:35001868|PMID:5001868|PMID:539244|PMID:6307646|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18612309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26557774|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34369425|PMID:34426522|PMID:35001868|PMID:5001868|PMID:539244|PMID:6307646|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34369425|PMID:34426522|PMID:35001868|PMID:5001868|PMID:539244|PMID:6307646|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18612309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26557774|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18612309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31382929|PMID:31432501|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34369425|PMID:34426522|PMID:35001868|PMID:36988593|PMID:5001868|PMID:539244|PMID:6307646|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:768 retinoblastoma ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:25741868|PMID:28492532 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:769 neuroblastoma ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:15814359 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:769 neuroblastoma treatment ISO RGD:737039 D RGD:9068941 20220114 RGD PMID:24714808|REF_RGD_ID:10043806 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:8398 osteoarthritis treatment ISO RGD:2323 D RGD:9068941 20220114 RGD PMID:24009074|REF_RGD_ID:10043190 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:8541 Sezary's disease ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:737039 D RGD:9068941 20220114 RGD PMID:16533530|REF_RGD_ID:11251777 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:8719 in situ carcinoma ISO RGD:737039 D RGD:9068941 20220114 RGD associated with Bladder Neoplasms;protein:increased expression:urinary bladder PMID:18234280|REF_RGD_ID:2296048 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:8923 skin melanoma ISO RGD:737039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:10491434|PMID:11078762|PMID:11358797|PMID:11477665|PMID:11500805|PMID:11687599|PMID:12072543|PMID:12606942|PMID:15140233|PMID:15146471|PMID:16234564|PMID:16896043|PMID:16905682|PMID:17576681|PMID:17992122|PMID:18573309|PMID:20505745|PMID:21462282|PMID:21507037|PMID:24336570|PMID:25157968|PMID:25356972|PMID:25741868|PMID:26619011|PMID:26681309|PMID:26775776|PMID:28146043|PMID:28492532|PMID:28830827|PMID:29983899|PMID:30291219|PMID:30742731|PMID:7777060|PMID:7777061|PMID:7780957|PMID:8521414|PMID:8573142|PMID:8595405|PMID:8668202|PMID:8723678|PMID:8755727|PMID:8834170|PMID:9053859|PMID:9324288|PMID:9328469|PMID:9536098|PMID:9660926|PMID:9710613|PMID:9751050|PMID:9823374|PMID:9856841 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:737039 D RGD:9068941 20220114 RGD DNA:hypermethylation PMID:16778587|REF_RGD_ID:2296054 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:737039 D RGD:9068941 20220114 RGD protein:increased expression PMID:17910346|REF_RGD_ID:2289675 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:737039 D RGD:9068941 20220114 RGD protein:increased expression:uterine cervix PMID:17415114|REF_RGD_ID:2289676 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:737039 D RGD:9068941 20220114 RGD protein:increased expression:uterine cervix PMID:16406113|REF_RGD_ID:2296058 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9000046 Poisoning ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:20044985 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9000081 Lymphatic Metastasis ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:29426936 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9000117 Esophageal Neoplasms ISO RGD:2323 D RGD:9068941 20220114 RGD Protein:decreased expression:esophagus PMID:10969811|REF_RGD_ID:1600828 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9000117 Esophageal Neoplasms ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:18410530 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9000217 Stomach Neoplasms ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:24747643 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9000392 Fluoride Poisoning ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:30259626 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:737039 D RGD:9068941 20220114 RGD associated with Testicular Neoplasms;DNA:missense mutation, deletion, polymorphism:cds, intron:p.A140T PMID:9554401|REF_RGD_ID:2289698 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9000555 Vulvar Lichen Sclerosus ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:17300232 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9000965 Neoplasm Metastasis ISO RGD:737039 D RGD:9068941 20220114 RGD associated with Paraganglioma, Extra-Adrenal;DNA:hypermethylation PMID:18509008|REF_RGD_ID:8552280 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9002221 Hyperplasia treatment ISO RGD:2323 D RGD:9068941 20220114 RGD PMID:23427405|REF_RGD_ID:8552677 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9002265 Kidney Neoplasms ISO RGD:737039 D RGD:9068941 20220114 RGD DNA:loss of heterozygosity PMID:11037653|REF_RGD_ID:2289689 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9002265 Kidney Neoplasms ISO RGD:737039 D RGD:9068941 20220114 RGD protein:increased expression:kidney PMID:17369505|REF_RGD_ID:2289679 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9002304 Prostatic Neoplasms ISO RGD:10322 D RGD:9068941 20220114 RGD DNA, mRNA, protein:hypermethylation, increased expression:exon, prostate PMID:17178860|REF_RGD_ID:2289681 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9002457 Experimental Arthritis treatment ISO RGD:737039 D RGD:9068941 20220114 RGD PMID:10395320|REF_RGD_ID:8552686 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9002644 Premature Aging ISO RGD:10322 D RGD:9068941 20220114 RGD protein:increased expression:skin PMID:21108731|REF_RGD_ID:10043189 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9002644 Premature Aging treatment ISO RGD:10322 D RGD:9068941 20220114 RGD PMID:23207764|REF_RGD_ID:10043192 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9002762 Ovarian Neoplasms ISO RGD:737039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:10738302|PMID:16397522|PMID:16896043|PMID:17713569|PMID:18025365|PMID:18337833|PMID:19523171|PMID:20093296|PMID:25741868|PMID:25780468|PMID:26467025|PMID:26681309|PMID:26775776|PMID:28492532|PMID:31567591|PMID:7881419|PMID:8570179|PMID:8653684|PMID:8727306|PMID:9916806 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:737039 D RGD:9068941 20220114 RGD PMID:17242700|REF_RGD_ID:2296051 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:737039 D RGD:9068941 20220114 RGD PMID:17493241|REF_RGD_ID:2296050 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9002777 Brain Stem Neoplasms ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:24098593 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9002928 Colonic Neoplasms ISO RGD:2323 D RGD:9068941 20220114 RGD mRNA, Protein:decreased expression:colon PMID:12189186|REF_RGD_ID:1600823 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737039 D RGD:9068941 20220114 RGD PMID:17369842|REF_RGD_ID:2289678 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737039 D RGD:9068941 20220114 RGD protein:increased expression:uterine cervix PMID:17415114|REF_RGD_ID:2289676 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:737039 D RGD:9068941 20220114 RGD protein:increased expression:uterine cervix PMID:16415792|REF_RGD_ID:2296057 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9003566 Mesothelioma ISO RGD:2323 D RGD:9068941 20220114 RGD DNA:deletion PMID:20065947|REF_RGD_ID:7248760 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9003566 Mesothelioma ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:18379362 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9003960 Trisomy ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:21526190 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9004217 Nerve Sheath Neoplasms ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:25240281 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9004441 Experimental Leukemia ISO RGD:10322 D RGD:9068941 20220114 RGD PMID:10090949|REF_RGD_ID:11251764 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:24495407 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9005006 Melanoma-Pancreatic Cancer Syndrome ISO RGD:737039 D RGD:7240710 20220112 OMIM 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9005006 Melanoma-Pancreatic Cancer Syndrome ISO RGD:737039 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Melanoma-pancreatic cancer syndrome PMID:10229204|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10498896|PMID:10508477|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10869234|PMID:10874641|PMID:10892805|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11156381|PMID:11360201|PMID:11433531|PMID:11506491|PMID:11556834|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12606942|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:14508519|PMID:14679123|PMID:14735200|PMID:15075790|PMID:15122588|PMID:15146471|PMID:15173226|PMID:15235029|PMID:15705881|PMID:15761864|PMID:15860862|PMID:15945100|PMID:16169933|PMID:16234564|PMID:16354195|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17218939|PMID:17255954|PMID:17370310|PMID:17397031|PMID:17713569|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18981015|PMID:18983535|PMID:19141585|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19799798|PMID:20093296|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21614589|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22368299|PMID:22440936|PMID:22636603|PMID:22703879|PMID:22841127|PMID:22995991|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23897584|PMID:24033266|PMID:24185512|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:25064638|PMID:25078331|PMID:25186627|PMID:25227142|PMID:25318351|PMID:25356972|PMID:25372287|PMID:25479140|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25846456|PMID:25980754|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26498684|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:26775776|PMID:26845104|PMID:26876133|PMID:26976419|PMID:27181379|PMID:27473757|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27960642|PMID:27978560|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28410231|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28830827|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29360161|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29684080|PMID:29758216|PMID:29774366|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30291219|PMID:30339520|PMID:30548481|PMID:30967399|PMID:31567591|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33322357|PMID:33823155|PMID:34069252|PMID:34069952|PMID:34426522|PMID:35001868|PMID:5001868|PMID:7566978|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595411|PMID:8603820|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8727306|PMID:8755727|PMID:8841025|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9133447|PMID:9166859|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9473234|PMID:9516223|PMID:9660926|PMID:9699728|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9005172 Lung Neoplasms ISO RGD:2323 D RGD:9068941 20220114 RGD DNA:hypermethylation:promoter PMID:11872642|PMID:19409458|REF_RGD_ID:1298567|REF_RGD_ID:7248761 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9005172 Lung Neoplasms ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:11872642|PMID:12115568|PMID:18337602|PMID:20135361 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2323 D RGD:9068941 20220114 RGD PMID:20681787|REF_RGD_ID:8552689 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:10322 D RGD:9068941 20220114 RGD PMID:18060046|REF_RGD_ID:2289674 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9005804 Vulvar Neoplasms ISO RGD:737039 D RGD:9068941 20220114 RGD associated with Papillomavirus Infections;protein:increased expression:vulva PMID:18192968|REF_RGD_ID:2289673 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9005804 Vulvar Neoplasms ISO RGD:737039 D RGD:9068941 20220114 RGD protein:increased expression:vulva PMID:16998595|REF_RGD_ID:2289682 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9005873 Tongue Neoplasms ISO RGD:2323 D RGD:9068941 20220114 RGD DNA:loss of heterozygosity PMID:16527513|REF_RGD_ID:1578522 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9005873 Tongue Neoplasms ISO RGD:2323 D RGD:9068941 20220114 RGD DNA:point mutations, missense mutation:exon PMID:17091472|REF_RGD_ID:1600814 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9005873 Tongue Neoplasms severity ISO RGD:2323 D RGD:9068941 20220114 RGD protein:decreased expression:tongue PMID:18804414|REF_RGD_ID:11252155 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:26410583 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737039 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10070944|PMID:10229204|PMID:10338331|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12072543|PMID:12118338|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12556369|PMID:12606942|PMID:12673200|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14508519|PMID:14584079|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15945100|PMID:16169933|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16608795|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17340131|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17495976|PMID:17576681|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18519632|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21614589|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23757202|PMID:23897584|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26104880|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737039 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28944238|PMID:28979722|PMID:29091774|PMID:29263814|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29758216|PMID:29774366|PMID:29922827|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31382929|PMID:31775759|PMID:31921681|PMID:32113160|PMID:32191290|PMID:33309985|PMID:33322357|PMID:33823155|PMID:33945383|PMID:35001868|PMID:7566978|PMID:7569991|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777061|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10070944|PMID:10229204|PMID:10338331|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12118338|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12556369|PMID:12606942|PMID:12673200|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14584079|PMID:14646619|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16608795|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17340131|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17495976|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26557774|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069952|PMID:35001868|PMID:5001868|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737039 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34426522|PMID:35001868|PMID:5001868|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34426522|PMID:35001868|PMID:5001868|PMID:539244|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34369425|PMID:34426522|PMID:35001868|PMID:5001868|PMID:539244|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737039 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12556369|PMID:12606942|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14646619|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16608795|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17340131|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17495976|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737039 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31432501|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34369425|PMID:34426522|PMID:35001868|PMID:36988593|PMID:5001868|PMID:539244|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007150 Urogenital Neoplasms ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:17300232 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007188 Liver Neoplasms ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:12378512|PMID:16317707|PMID:27064257|PMID:33010264 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007364 Mouth Neoplasms ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:24991542 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007502 Brain Neoplasms ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:15144691|PMID:16860786 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007702 Carcinogenesis ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:21526190 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007715 Endometrial Neoplasms severity ISO RGD:737039 D RGD:9068941 20220114 RGD protein:increased expression:endometrium PMID:16837908|REF_RGD_ID:2289683 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9007973 Genetic Translocation ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:21325069|PMID:21526190 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:25741868|PMID:26619011|PMID:28492532 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9008165 Chromosome Deletion ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:21526190 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9008443 Colorectal Neoplasms ISO RGD:737039 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:11477665|PMID:11500805|PMID:11687599|PMID:12072543|PMID:16905682|PMID:17576681|PMID:18573309|PMID:21462282|PMID:25356972|PMID:25741868|PMID:26619011|PMID:26681309|PMID:26775776|PMID:28492532|PMID:28830827|PMID:29983899|PMID:8573142|PMID:8595405|PMID:8723678|PMID:9536098|PMID:9751050|PMID:9823374 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9008939 Breast Neoplasms ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:20948315 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9008939 Breast Neoplasms ISO RGD:737039 D RGD:9068941 20220114 RGD protein:decreased expression:breast PMID:8686738|REF_RGD_ID:2289690 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:737039 D RGD:9068941 20220114 RGD DNA:hypermethylation:promoter PMID:23712779|REF_RGD_ID:8552384 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:737039 D RGD:9068941 20220114 RGD DNA:missense mutation: :p.A148T PMID:15879498|REF_RGD_ID:2289688 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9119 acute myeloid leukemia ISO RGD:737039 D RGD:9068941 20220114 RGD mRNA,protein:altered expression:bone marrow: PMID:11697625|REF_RGD_ID:11252080 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:737039 D RGD:9068941 20220114 RGD DNA:deletion: : PMID:11064355|REF_RGD_ID:11251749 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9538 multiple myeloma ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:16008847 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9538 multiple myeloma disease_progression ISO RGD:737039 D RGD:9068941 20220114 RGD DNA:hypermethylation:: PMID:12681979|REF_RGD_ID:11252185 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737039 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:20453839 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:737039 D RGD:9068941 20220114 RGD PMID:25675863|REF_RGD_ID:11252082 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:737039 D RGD:9068941 20220114 RGD DNA:deletion: : PMID:10090949|REF_RGD_ID:11251764 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:737039 D RGD:9068941 20220114 RGD DNA:deletion: : PMID:9204978|REF_RGD_ID:11252081 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:737039 D RGD:9068941 20220114 RGD DNA:missense mutations:cds: PMID:26104880|REF_RGD_ID:11057958 12116424 CDKN2A cyclin dependent kinase inhibitor 2A gene DOID:9970 obesity ISO RGD:2323 D RGD:9068941 20220114 RGD PMID:22194422|REF_RGD_ID:8552660 12116430 LOC100683252 C-type lectin domain family 9 member A-like gene DOID:630 genetic disease ISO RGD:1346640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116448 YDJC YdjC chitooligosaccharide deacetylase homolog gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1604990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 12116448 YDJC YdjC chitooligosaccharide deacetylase homolog gene DOID:11198 DiGeorge syndrome ISO RGD:1604990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 12116448 YDJC YdjC chitooligosaccharide deacetylase homolog gene DOID:630 genetic disease ISO RGD:1604990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116461 MANEAL mannosidase endo-alpha like gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1604520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12116461 MANEAL mannosidase endo-alpha like gene DOID:630 genetic disease ISO RGD:1604520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116469 MIR539 microRNA mir-539 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1606048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 12116469 MIR539 microRNA mir-539 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1606048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12116469 MIR539 microRNA mir-539 gene DOID:684 hepatocellular carcinoma ISO RGD:1606048 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27717846 12116469 MIR539 microRNA mir-539 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1606048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12116502 SERTM2 serine rich and transmembrane domain containing 2 gene DOID:12849 autistic disorder ISO RGD:7249247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12116502 SERTM2 serine rich and transmembrane domain containing 2 gene DOID:5419 schizophrenia ISO RGD:7249247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12116531 LOC106557472 torsin-1A-interacting protein 2-like gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1604221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12116531 LOC106557472 torsin-1A-interacting protein 2-like gene DOID:0110289 autosomal recessive limb-girdle muscular dystrophy type 2Y ISO RGD:1604221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Y PMID:24856141|PMID:25193337 12116531 LOC106557472 torsin-1A-interacting protein 2-like gene DOID:1540 parathyroid carcinoma ISO RGD:1604221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12116531 LOC106557472 torsin-1A-interacting protein 2-like gene DOID:630 genetic disease ISO RGD:1604221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116531 LOC106557472 torsin-1A-interacting protein 2-like gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1604221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12116531 LOC106557472 torsin-1A-interacting protein 2-like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12116574 IL18 interleukin 18 gene DOID:0050120 hemophagocytic lymphohistiocytosis ISO RGD:730894 D RGD:9068941 20200609 RGD associated with Epstein-Barr Virus Infections;protein:increased expression:serum PMID:20472718|REF_RGD_ID:8655917 12116574 IL18 interleukin 18 gene DOID:0050847 sleep apnea severity ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:19187612|REF_RGD_ID:4889903 12116574 IL18 interleukin 18 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16428475|REF_RGD_ID:8655925 12116574 IL18 interleukin 18 gene DOID:0060319 cardiac arrest ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:18679114|REF_RGD_ID:4889454 12116574 IL18 interleukin 18 gene DOID:0070227 intrahepatic cholestasis of pregnancy severity ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:28697498|REF_RGD_ID:14696655 12116574 IL18 interleukin 18 gene DOID:0080162 lupus nephritis ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:20980973|REF_RGD_ID:6893449 12116574 IL18 interleukin 18 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20422882|REF_RGD_ID:14696664 12116574 IL18 interleukin 18 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:28660148|REF_RGD_ID:14696674 12116574 IL18 interleukin 18 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:24006666|REF_RGD_ID:8655964 12116574 IL18 interleukin 18 gene DOID:0080600 COVID-19 ISO RGD:730894 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12116574 IL18 interleukin 18 gene DOID:0080600 COVID-19 ISO RGD:730894 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 12116574 IL18 interleukin 18 gene DOID:0080600 COVID-19 severity ISO RGD:730894 D RGD:9068941 20200618 RGD protein:increased expression:plasma (human) PMID:32360286|REF_RGD_ID:30309209 12116574 IL18 interleukin 18 gene DOID:0080745 polymyositis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20601655|REF_RGD_ID:4889547 12116574 IL18 interleukin 18 gene DOID:0080784 urinary tract infection ISO RGD:2889 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:19171043|REF_RGD_ID:2311084 12116574 IL18 interleukin 18 gene DOID:0081120 Graves ophthalmopathy treatment ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:12689659|REF_RGD_ID:8655878 12116574 IL18 interleukin 18 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:730894 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 12116574 IL18 interleukin 18 gene DOID:10223 dermatomyositis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20601655|REF_RGD_ID:4889547 12116574 IL18 interleukin 18 gene DOID:10457 Legionnaires' disease ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:11083766|REF_RGD_ID:4889865 12116574 IL18 interleukin 18 gene DOID:1059 intellectual disability ISO RGD:730894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12116574 IL18 interleukin 18 gene DOID:10955 strongyloidiasis treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:16129701|REF_RGD_ID:8655932 12116574 IL18 interleukin 18 gene DOID:11162 respiratory failure ISO RGD:730894 D RGD:9068941 20200609 RGD associated with pancreatitis; protein:increased expression:plasma PMID:19357034|REF_RGD_ID:4889556 12116574 IL18 interleukin 18 gene DOID:11335 sarcoidosis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16100009 12116574 IL18 interleukin 18 gene DOID:11335 sarcoidosis disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17015003|REF_RGD_ID:4889815 12116574 IL18 interleukin 18 gene DOID:11396 pulmonary edema ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:19394645|REF_RGD_ID:4889555 12116574 IL18 interleukin 18 gene DOID:114 heart disease ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:20644901|REF_RGD_ID:4889158 12116574 IL18 interleukin 18 gene DOID:1205 allergic disease ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12116574 IL18 interleukin 18 gene DOID:12351 alcoholic hepatitis severity ISO RGD:730894 D RGD:9068941 20200609 RGD associated alcoholic liver cirrhosis; protein:increased expression:plasma: PMID:15566508|REF_RGD_ID:14696666 12116574 IL18 interleukin 18 gene DOID:12361 Graves' disease ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12689659|REF_RGD_ID:8655878 12116574 IL18 interleukin 18 gene DOID:12361 Graves' disease no_association ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:multiple PMID:16571086|REF_RGD_ID:8655916 12116574 IL18 interleukin 18 gene DOID:12662 paracoccidioidomycosis treatment ISO RGD:730894 D RGD:9068941 20201015 RGD PMID:28992214|REF_RGD_ID:39938858 12116574 IL18 interleukin 18 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:rs360721 (human) PMID:18043444|REF_RGD_ID:4889584 12116574 IL18 interleukin 18 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:20130064|REF_RGD_ID:4889550 12116574 IL18 interleukin 18 gene DOID:12894 Sjogren's syndrome ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:saliva PMID:23906036|REF_RGD_ID:8655918 12116574 IL18 interleukin 18 gene DOID:13141 uveitis treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:22562515|REF_RGD_ID:8655982 12116574 IL18 interleukin 18 gene DOID:13241 Behcet's disease ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:14727452|REF_RGD_ID:4889844 12116574 IL18 interleukin 18 gene DOID:13241 Behcet's disease no_association ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (human) PMID:16273766|REF_RGD_ID:8655910 12116574 IL18 interleukin 18 gene DOID:13241 Behcet's disease no_association ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human) PMID:21532063|REF_RGD_ID:8655926 12116574 IL18 interleukin 18 gene DOID:13241 Behcet's disease susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human) PMID:17055358|REF_RGD_ID:8655897 12116574 IL18 interleukin 18 gene DOID:13241 Behcet's disease susceptibility ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:15234532|REF_RGD_ID:8655927 12116574 IL18 interleukin 18 gene DOID:13375 temporal arteritis ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-607C>A (rs1946518), -1297T>C (rs360719) (human) PMID:20331879|REF_RGD_ID:8655865 12116574 IL18 interleukin 18 gene DOID:13375 temporal arteritis no_association ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-137G>C (rs187238) (human) PMID:20331879|REF_RGD_ID:8655865 12116574 IL18 interleukin 18 gene DOID:13378 Kawasaki disease ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:silent mutation, haplotypes:cds:c.105A>C (rs549908) (human) PMID:19288449|REF_RGD_ID:8655898 12116574 IL18 interleukin 18 gene DOID:13378 Kawasaki disease disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:15345916|REF_RGD_ID:8655924 12116574 IL18 interleukin 18 gene DOID:13378 Kawasaki disease susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:-137G>C, -607C>A, -656G>T (rs187238, rs1946519, rs1946518) (human) PMID:18484687|REF_RGD_ID:8655874 12116574 IL18 interleukin 18 gene DOID:13406 pulmonary sarcoidosis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar lavage fluid PMID:16734560|REF_RGD_ID:4889823 12116574 IL18 interleukin 18 gene DOID:13406 pulmonary sarcoidosis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11174201|REF_RGD_ID:4889863 12116574 IL18 interleukin 18 gene DOID:13608 biliary atresia ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:10726686|REF_RGD_ID:14695529 12116574 IL18 interleukin 18 gene DOID:13608 biliary atresia susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:rs187238,rs1946518(human) PMID:30059753|REF_RGD_ID:14695528 12116574 IL18 interleukin 18 gene DOID:14566 disease of cellular proliferation ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21273262 12116574 IL18 interleukin 18 gene DOID:1485 cystic fibrosis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20026745|REF_RGD_ID:4889551 12116574 IL18 interleukin 18 gene DOID:1555 urticaria ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18204966 12116574 IL18 interleukin 18 gene DOID:1555 urticaria ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:24490166|REF_RGD_ID:8655890 12116574 IL18 interleukin 18 gene DOID:1555 urticaria ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human) PMID:21692767|REF_RGD_ID:8655894 12116574 IL18 interleukin 18 gene DOID:1612 breast cancer ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-137G>C (rs187238) (human) PMID:19152241|REF_RGD_ID:8655899 12116574 IL18 interleukin 18 gene DOID:1612 breast cancer ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12209760|REF_RGD_ID:8655866 12116574 IL18 interleukin 18 gene DOID:1612 breast cancer no_association ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-607C>A (rs1946518) (human) PMID:19152241|REF_RGD_ID:8655899 12116574 IL18 interleukin 18 gene DOID:1679 cystitis ISO RGD:2889 D RGD:9068941 20200609 RGD protein:increased expression:urine, bladder PMID:18848347|REF_RGD_ID:2317284 12116574 IL18 interleukin 18 gene DOID:182 calcinosis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12116574 IL18 interleukin 18 gene DOID:1824 status epilepticus ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:20674684|REF_RGD_ID:4889491 12116574 IL18 interleukin 18 gene DOID:1883 hepatitis C ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:27927859|REF_RGD_ID:14696653 12116574 IL18 interleukin 18 gene DOID:1883 hepatitis C disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:21984735|REF_RGD_ID:14696657 12116574 IL18 interleukin 18 gene DOID:1883 hepatitis C disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-607C>A, -137G>C(human) PMID:18781864|REF_RGD_ID:14695527 12116574 IL18 interleukin 18 gene DOID:1883 hepatitis C susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-607C>A (rs1946518)(human) PMID:26486291|REF_RGD_ID:14696654 12116574 IL18 interleukin 18 gene DOID:1883 hepatitis C treatment ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-137G>C,-607C>A(human) PMID:19455410|REF_RGD_ID:14695530 12116574 IL18 interleukin 18 gene DOID:1936 atherosclerosis ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:16732281|REF_RGD_ID:14695532 12116574 IL18 interleukin 18 gene DOID:1936 atherosclerosis treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:23685195|REF_RGD_ID:8655997 12116574 IL18 interleukin 18 gene DOID:2043 hepatitis B disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoter,intron,exon:���148G>C, +8925C>G,+13925A>C(human) PMID:19466545|REF_RGD_ID:14696658 12116574 IL18 interleukin 18 gene DOID:2043 hepatitis B susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma; DNA:SNP:promoter:-137G>C(rs187238)(human) PMID:27429592|REF_RGD_ID:14695540 12116574 IL18 interleukin 18 gene DOID:2048 autoimmune hepatitis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 12116574 IL18 interleukin 18 gene DOID:2316 brain ischemia ISO RGD:2889 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:11807395|REF_RGD_ID:4889510 12116574 IL18 interleukin 18 gene DOID:2316 brain ischemia ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 12116574 IL18 interleukin 18 gene DOID:2723 dermatitis ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:12925208|REF_RGD_ID:8655896 12116574 IL18 interleukin 18 gene DOID:2773 contact dermatitis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12116574 IL18 interleukin 18 gene DOID:2841 asthma ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:20497957|REF_RGD_ID:4889898 12116574 IL18 interleukin 18 gene DOID:2841 asthma ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:18826499|PMID:20497957|REF_RGD_ID:4889898|REF_RGD_ID:4889908 12116574 IL18 interleukin 18 gene DOID:2841 asthma disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11174201|REF_RGD_ID:4889863 12116574 IL18 interleukin 18 gene DOID:2841 asthma severity ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter: c.-380C>G (rs5744247)(human) PMID:19745201|REF_RGD_ID:4889900 12116574 IL18 interleukin 18 gene DOID:2841 asthma severity ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:Promoter:c. -607C>A (rs1946518), -137G/C (rs187238) (human) PMID:17767553|REF_RGD_ID:4889585 12116574 IL18 interleukin 18 gene DOID:2841 asthma susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:c.and -137G>C (rs187238)(human) PMID:16433859|REF_RGD_ID:4889923 12116574 IL18 interleukin 18 gene DOID:2841 asthma susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:polymorphism: :c. -105A>C (human) PMID:18200581|REF_RGD_ID:4889910 12116574 IL18 interleukin 18 gene DOID:2921 glomerulonephritis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18462998 12116574 IL18 interleukin 18 gene DOID:2945 severe acute respiratory syndrome ISO RGD:730894 D RGD:9068941 20200702 RGD protein:increased expression:serum (human) PMID:15602737|REF_RGD_ID:32716399 12116574 IL18 interleukin 18 gene DOID:2957 pulmonary tuberculosis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15955140|REF_RGD_ID:4889836 12116574 IL18 interleukin 18 gene DOID:2986 IgA glomerulonephritis ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:22518072|REF_RGD_ID:6893446 12116574 IL18 interleukin 18 gene DOID:2987 familial Mediterranean fever ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16273770|REF_RGD_ID:8655877 12116574 IL18 interleukin 18 gene DOID:3008 invasive ductal carcinoma ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:21263407|REF_RGD_ID:8655888 12116574 IL18 interleukin 18 gene DOID:3021 acute kidney failure ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:11342578|REF_RGD_ID:6893450 12116574 IL18 interleukin 18 gene DOID:3042 allergic contact dermatitis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27585668 12116574 IL18 interleukin 18 gene DOID:3042 allergic contact dermatitis ISO RGD:730895 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:9781803|REF_RGD_ID:8655902 12116574 IL18 interleukin 18 gene DOID:3042 allergic contact dermatitis treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:12874202|REF_RGD_ID:8655940 12116574 IL18 interleukin 18 gene DOID:3070 high grade glioma treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:18725309|REF_RGD_ID:8657054 12116574 IL18 interleukin 18 gene DOID:3082 interstitial lung disease ISO RGD:2889 D RGD:9068941 20200609 RGD associated with Pseudomonas Infection; protein:increased expression:lung PMID:20543002|REF_RGD_ID:4889883 12116574 IL18 interleukin 18 gene DOID:3082 interstitial lung disease ISO RGD:730894 D RGD:9068941 20200609 RGD associated with dermatomyositis; protein:increased expression:serum PMID:20601655|REF_RGD_ID:4889547 12116574 IL18 interleukin 18 gene DOID:3082 interstitial lung disease ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:21257923|REF_RGD_ID:5144220 12116574 IL18 interleukin 18 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20026745|REF_RGD_ID:4889551 12116574 IL18 interleukin 18 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:sputum, macrophage PMID:19208460|REF_RGD_ID:4889575 12116574 IL18 interleukin 18 gene DOID:326 ischemia ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:21289055|REF_RGD_ID:6893448 12116574 IL18 interleukin 18 gene DOID:3310 atopic dermatitis ISO RGD:730895 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11490156|REF_RGD_ID:8655908 12116574 IL18 interleukin 18 gene DOID:3310 atopic dermatitis ISO RGD:730895 D RGD:9068941 20220825 MouseDO OMIM:603165 12116574 IL18 interleukin 18 gene DOID:3310 atopic dermatitis no_association ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-137G>C (rs187238) (human) PMID:22840759|REF_RGD_ID:8655914 12116574 IL18 interleukin 18 gene DOID:3310 atopic dermatitis severity ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-140C>G (rs360721) (human) PMID:22840759|REF_RGD_ID:8655914 12116574 IL18 interleukin 18 gene DOID:3310 atopic dermatitis severity ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs795467, rs4937113, rs5744247 (human) PMID:17517100|REF_RGD_ID:8655876 12116574 IL18 interleukin 18 gene DOID:3310 atopic dermatitis severity ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15317323|REF_RGD_ID:8655872 12116574 IL18 interleukin 18 gene DOID:3526 cerebral infarction treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:20584315|REF_RGD_ID:8655991 12116574 IL18 interleukin 18 gene DOID:3770 pulmonary fibrosis ISO RGD:730894 D RGD:9068941 20200609 RGD idiopathic pulmonary fibrosis; protein:increased expression:lung, serum PMID:15308504|REF_RGD_ID:4889841 12116574 IL18 interleukin 18 gene DOID:3770 pulmonary fibrosis ISO RGD:730895 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:18598692|REF_RGD_ID:4889581 12116574 IL18 interleukin 18 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15955140|REF_RGD_ID:4889836 12116574 IL18 interleukin 18 gene DOID:4079 heart valve disease ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12116574 IL18 interleukin 18 gene DOID:4481 allergic rhinitis no_association ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-140C>G (rs360721) (human) PMID:22840759|REF_RGD_ID:8655914 12116574 IL18 interleukin 18 gene DOID:4481 allergic rhinitis severity ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-137G>C (rs187238) (human) PMID:22840759|REF_RGD_ID:8655914 12116574 IL18 interleukin 18 gene DOID:4483 rhinitis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17323858|REF_RGD_ID:4889916 12116574 IL18 interleukin 18 gene DOID:4483 rhinitis ISO RGD:730895 D RGD:9068941 20200609 RGD protein:increased expression:nasal lavage fluid, bronchoalveolar lavage fluid PMID:17305282|REF_RGD_ID:4889917 12116574 IL18 interleukin 18 gene DOID:4483 rhinitis disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD rhinitis allergic, seasonal; protein:increased expression:plasma PMID:15934281|REF_RGD_ID:4889927 12116574 IL18 interleukin 18 gene DOID:4724 brain edema treatment ISO RGD:2889 D RGD:9068941 20200609 RGD associated with Status Epilepticus PMID:22338606|REF_RGD_ID:6771363 12116574 IL18 interleukin 18 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:22046355|REF_RGD_ID:6893447 12116574 IL18 interleukin 18 gene DOID:4989 pancreatitis ISO RGD:2889 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19238530|REF_RGD_ID:4889404 12116574 IL18 interleukin 18 gene DOID:4989 pancreatitis treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:23983797|REF_RGD_ID:8655988 12116574 IL18 interleukin 18 gene DOID:5082 liver cirrhosis ISO RGD:730894 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;mRNA:increased expression:PBMC: PMID:19740312|REF_RGD_ID:14696656 12116574 IL18 interleukin 18 gene DOID:5082 liver cirrhosis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:12462332|REF_RGD_ID:14695542 12116574 IL18 interleukin 18 gene DOID:5082 liver cirrhosis severity ISO RGD:730894 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;mRNA:increased expression:PBMC: PMID:19740312|REF_RGD_ID:14696656 12116574 IL18 interleukin 18 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:730894 D RGD:9068941 20200609 RGD associated with hepatitis C; protein:increased expression:serum: PMID:27927859|REF_RGD_ID:14696653 12116574 IL18 interleukin 18 gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:27927859|REF_RGD_ID:14696653 12116574 IL18 interleukin 18 gene DOID:552 pneumonia ISO RGD:2889 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung,bronchoalveolar fluid PMID:11739527|REF_RGD_ID:729357 12116574 IL18 interleukin 18 gene DOID:552 pneumonia ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12116574 IL18 interleukin 18 gene DOID:552 pneumonia ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15955140|REF_RGD_ID:4889836 12116574 IL18 interleukin 18 gene DOID:552 pneumonia ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:17400729|REF_RGD_ID:4889590 12116574 IL18 interleukin 18 gene DOID:552 pneumonia ISO RGD:730895 D RGD:9068941 20200609 RGD associated with reperfusion injury PMID:16052682|REF_RGD_ID:4889825 12116574 IL18 interleukin 18 gene DOID:5614 eye disease susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:SNP:promoter:-137G>C (rs187238) (human) PMID:16273766|REF_RGD_ID:8655910 12116574 IL18 interleukin 18 gene DOID:5844 myocardial infarction ameliorates ISO RGD:2889 D RGD:9068941 20230330 RGD PMID:33389498|REF_RGD_ID:242905187 12116574 IL18 interleukin 18 gene DOID:633 myositis treatment ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:16968394|REF_RGD_ID:8655903 12116574 IL18 interleukin 18 gene DOID:6432 pulmonary hypertension ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:17400729|REF_RGD_ID:4889590 12116574 IL18 interleukin 18 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:26893476|REF_RGD_ID:11538094 12116574 IL18 interleukin 18 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD associated with hepatitis B, chronic;DNA:SNP:promoter:-607C>A(human) PMID:27470888|REF_RGD_ID:14696663 12116574 IL18 interleukin 18 gene DOID:684 hepatocellular carcinoma severity ISO RGD:730894 D RGD:9068941 20200609 RGD associated with hepatitis C;DNA:SNPs, haplotype:promoter:-607C>A, -137G>C(human) PMID:29341496|REF_RGD_ID:14695526 12116574 IL18 interleukin 18 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-137G>C(rs187238)(human) PMID:27429592|REF_RGD_ID:14695540 12116574 IL18 interleukin 18 gene DOID:7148 rheumatoid arthritis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16368150 12116574 IL18 interleukin 18 gene DOID:769 neuroblastoma susceptibility ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:16428511|REF_RGD_ID:8655920 12116574 IL18 interleukin 18 gene DOID:83 cataract ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:18006521|REF_RGD_ID:8655879 12116574 IL18 interleukin 18 gene DOID:83 cataract ISO RGD:2889 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;mRNA:increased expression:lens PMID:21591858|REF_RGD_ID:8655881 12116574 IL18 interleukin 18 gene DOID:850 lung disease ISO RGD:730894 D RGD:9068941 20200609 RGD acute lung injury; associated with cardiac surgical procedures; DNA:polymorphism: : c. -607 C>G (human) PMID:20522205|REF_RGD_ID:4889548 12116574 IL18 interleukin 18 gene DOID:850 lung disease ISO RGD:730894 D RGD:9068941 20200609 RGD lung injury; protein:increased expression:lung PMID:19265174|REF_RGD_ID:4889574 12116574 IL18 interleukin 18 gene DOID:850 lung disease ISO RGD:730895 D RGD:9068941 20200609 RGD acute lung injury; associated with endotoxemia; PMID:19197224|REF_RGD_ID:4889576 12116574 IL18 interleukin 18 gene DOID:850 lung disease ISO RGD:730895 D RGD:9068941 20200609 RGD lung injury PMID:19265174|REF_RGD_ID:4889574 12116574 IL18 interleukin 18 gene DOID:8566 herpes simplex treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:9971824|REF_RGD_ID:8655923 12116574 IL18 interleukin 18 gene DOID:865 vasculitis ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:19717152|REF_RGD_ID:4889401 12116574 IL18 interleukin 18 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:2889 D RGD:9068941 20200609 RGD protein:increased expression:ileum PMID:12032269|PMID:21240009|REF_RGD_ID:5490305|REF_RGD_ID:729222 12116574 IL18 interleukin 18 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:2889 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:12529262|REF_RGD_ID:4889473 12116574 IL18 interleukin 18 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:17947451|REF_RGD_ID:4889475 12116574 IL18 interleukin 18 gene DOID:874 bacterial pneumonia ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:17664259|REF_RGD_ID:4889913 12116574 IL18 interleukin 18 gene DOID:8893 psoriasis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17611614|REF_RGD_ID:8655919 12116574 IL18 interleukin 18 gene DOID:8893 psoriasis treatment ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:22291810|REF_RGD_ID:8655900 12116574 IL18 interleukin 18 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:24801815|REF_RGD_ID:11073600 12116574 IL18 interleukin 18 gene DOID:8947 diabetic retinopathy ISO RGD:730894 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum PMID:16260350|REF_RGD_ID:8655907 12116574 IL18 interleukin 18 gene DOID:8947 diabetic retinopathy ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:19011009|REF_RGD_ID:4889417 12116574 IL18 interleukin 18 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:18367607|REF_RGD_ID:2315889 12116574 IL18 interleukin 18 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:23140983|REF_RGD_ID:8655974 12116574 IL18 interleukin 18 gene DOID:9000081 Lymphatic Metastasis ISO RGD:730894 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:serum PMID:12902898|REF_RGD_ID:8655867 12116574 IL18 interleukin 18 gene DOID:9000197 Edema ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:19497959|REF_RGD_ID:4889403 12116574 IL18 interleukin 18 gene DOID:9000386 Polyomavirus Infections ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 12116574 IL18 interleukin 18 gene DOID:9000528 Coronary Disease ISO RGD:730894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Three Vessel Coronary Disease 12116574 IL18 interleukin 18 gene DOID:9000641 Pain ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:19853379|REF_RGD_ID:2315887 12116574 IL18 interleukin 18 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:11766995|REF_RGD_ID:4889856 12116574 IL18 interleukin 18 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11121210 12116574 IL18 interleukin 18 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12748951 12116574 IL18 interleukin 18 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730894 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:SNP:promoter:-137G>C (rs187238) (human) PMID:19152241|REF_RGD_ID:8655899 12116574 IL18 interleukin 18 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730894 D RGD:9068941 20200609 RGD associated with breast cancer;protein:increased expression:serum PMID:12209760|REF_RGD_ID:8655866 12116574 IL18 interleukin 18 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11215816|REF_RGD_ID:4889862 12116574 IL18 interleukin 18 gene DOID:9000998 Brain Injuries ISO RGD:2889 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:17188500|REF_RGD_ID:2315917 12116574 IL18 interleukin 18 gene DOID:9000998 Brain Injuries severity ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:17188500|REF_RGD_ID:2315917 12116574 IL18 interleukin 18 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:23000553|REF_RGD_ID:8655963 12116574 IL18 interleukin 18 gene DOID:9001488 Human Influenza ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:15606801|REF_RGD_ID:4889964 12116574 IL18 interleukin 18 gene DOID:9001547 Tibial Fractures ISO RGD:2889 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:19853379|REF_RGD_ID:2315887 12116574 IL18 interleukin 18 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12116574 IL18 interleukin 18 gene DOID:9001708 Hemorrhagic Shock ISO RGD:730895 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23589298|REF_RGD_ID:14695541 12116574 IL18 interleukin 18 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:15770015|REF_RGD_ID:4889960 12116574 IL18 interleukin 18 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:25919765|REF_RGD_ID:14696667 12116574 IL18 interleukin 18 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:14999688|REF_RGD_ID:14696668 12116574 IL18 interleukin 18 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2889 D RGD:9068941 20200609 RGD associated with Peripheral Nerve Injuries PMID:19036970|REF_RGD_ID:8655929 12116574 IL18 interleukin 18 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17688413 12116574 IL18 interleukin 18 gene DOID:9002433 Schistosomiasis Japonica treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:19467215|REF_RGD_ID:14696662 12116574 IL18 interleukin 18 gene DOID:9002457 Experimental Arthritis ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:15147345|REF_RGD_ID:4889503 12116574 IL18 interleukin 18 gene DOID:9002457 Experimental Arthritis disease_progression ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:19096963|REF_RGD_ID:4889415 12116574 IL18 interleukin 18 gene DOID:9002498 Wallerian Degeneration ISO RGD:2889 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:macrophage, microglia: PMID:11494369|REF_RGD_ID:4889526 12116574 IL18 interleukin 18 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:9834127|REF_RGD_ID:4889543 12116574 IL18 interleukin 18 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2889 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:9846824|REF_RGD_ID:4889542 12116574 IL18 interleukin 18 gene DOID:9002798 Macrophage Activation Syndrome ISO RGD:730894 D RGD:9068941 20200609 RGD associated with Arthritis, Juvenile;protein:increased expression:serum PMID:20472718|REF_RGD_ID:8655917 12116574 IL18 interleukin 18 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22967010 12116574 IL18 interleukin 18 gene DOID:9002916 Hyperphagia ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:16732281|REF_RGD_ID:14695532 12116574 IL18 interleukin 18 gene DOID:9003036 Oral Lichen Planus ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human) PMID:17854431|REF_RGD_ID:8655868 12116574 IL18 interleukin 18 gene DOID:9003036 Oral Lichen Planus no_association ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, intron:-656G>T (rs1946519), 1248A>G (rs189667) (human) PMID:17854431|REF_RGD_ID:8655868 12116574 IL18 interleukin 18 gene DOID:9003657 Perennial Allergic Rhinitis susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:c. -607A>C (rs1946518) (human) PMID:16406079|REF_RGD_ID:4889924 12116574 IL18 interleukin 18 gene DOID:9003690 Carcinoma, Lewis Lung treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:16767432|REF_RGD_ID:8655941 12116574 IL18 interleukin 18 gene DOID:9003871 Venous Thrombosis ISO RGD:2889 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22318348|REF_RGD_ID:8655957 12116574 IL18 interleukin 18 gene DOID:9003936 Cardiomegaly ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18660453 12116574 IL18 interleukin 18 gene DOID:9004009 Reperfusion Injury ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:19394645|REF_RGD_ID:4889555 12116574 IL18 interleukin 18 gene DOID:9004009 Reperfusion Injury ISO RGD:730895 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16052682|REF_RGD_ID:4889825 12116574 IL18 interleukin 18 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:19740312|REF_RGD_ID:14696656 12116574 IL18 interleukin 18 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-607C>A (rs1946518)(human) PMID:25198668|REF_RGD_ID:14696651 12116574 IL18 interleukin 18 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:730894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12116574 IL18 interleukin 18 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:12230493|PMID:17411412|REF_RGD_ID:8655870|REF_RGD_ID:8655901 12116574 IL18 interleukin 18 gene DOID:9004283 Transplant Rejection ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:21962809|REF_RGD_ID:8655943 12116574 IL18 interleukin 18 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2889 D RGD:9068941 20200609 RGD associated with Myocardial Reperfusion Injury PMID:24223666|REF_RGD_ID:8655952 12116574 IL18 interleukin 18 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:21045270|REF_RGD_ID:4889546 12116574 IL18 interleukin 18 gene DOID:9004994 Embryo Loss ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:21920610|REF_RGD_ID:8655947 12116574 IL18 interleukin 18 gene DOID:9005236 Drug Eruptions ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18204966 12116574 IL18 interleukin 18 gene DOID:9005966 Staphylococcal Skin Infections treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:21536791|REF_RGD_ID:8655921 12116574 IL18 interleukin 18 gene DOID:9006182 Carotid Artery Injuries ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:16864728|REF_RGD_ID:4889500 12116574 IL18 interleukin 18 gene DOID:9006182 Carotid Artery Injuries ISO RGD:2889 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery PMID:19955748|REF_RGD_ID:4889159 12116574 IL18 interleukin 18 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:22089199|REF_RGD_ID:8655971 12116574 IL18 interleukin 18 gene DOID:9006646 Metabolic Syndrome ISO RGD:2889 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19717152|REF_RGD_ID:4889401 12116574 IL18 interleukin 18 gene DOID:9006646 Metabolic Syndrome ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16644639 12116574 IL18 interleukin 18 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:24456735|REF_RGD_ID:8655985 12116574 IL18 interleukin 18 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:12023376|REF_RGD_ID:8655931 12116574 IL18 interleukin 18 gene DOID:9007096 Stroke ISO RGD:2889 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:21171972|REF_RGD_ID:4891154 12116574 IL18 interleukin 18 gene DOID:9007356 Eczema ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:multiple PMID:15806006|REF_RGD_ID:8655937 12116574 IL18 interleukin 18 gene DOID:9007364 Mouth Neoplasms ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24349532 12116574 IL18 interleukin 18 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19164858 12116574 IL18 interleukin 18 gene DOID:9007480 Hyperoxia ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:19672068|REF_RGD_ID:4889402 12116574 IL18 interleukin 18 gene DOID:9007692 Insulin Resistance ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:16732281|REF_RGD_ID:14695532 12116574 IL18 interleukin 18 gene DOID:9007692 Insulin Resistance treatment ISO RGD:730894 D RGD:9068941 20200609 RGD associated with Graves Disease PMID:23257837|REF_RGD_ID:8655938 12116574 IL18 interleukin 18 gene DOID:9007730 Burns ISO RGD:730895 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:19197224|REF_RGD_ID:4889576 12116574 IL18 interleukin 18 gene DOID:9007748 Retinal Neovascularization ISO RGD:730894 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina PMID:17562991|REF_RGD_ID:8655891 12116574 IL18 interleukin 18 gene DOID:9007748 Retinal Neovascularization ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:17234681|REF_RGD_ID:8655930 12116574 IL18 interleukin 18 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:19805173|REF_RGD_ID:4889400 12116574 IL18 interleukin 18 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:19164288|REF_RGD_ID:4889578 12116574 IL18 interleukin 18 gene DOID:9007874 Liver Failure treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:23155311|REF_RGD_ID:8655993 12116574 IL18 interleukin 18 gene DOID:9008103 Seasonal Allergic Rhinitis no_association ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoters:multiple PMID:12532106|REF_RGD_ID:8655871 12116574 IL18 interleukin 18 gene DOID:9008103 Seasonal Allergic Rhinitis susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoters, exon:multiple PMID:12532106|REF_RGD_ID:8655871 12116574 IL18 interleukin 18 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-607C>A(human) PMID:27470888|REF_RGD_ID:14696663 12116574 IL18 interleukin 18 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:730894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 12116574 IL18 interleukin 18 gene DOID:9008691 Liver Injury ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:24412291|REF_RGD_ID:14696652 12116574 IL18 interleukin 18 gene DOID:9008691 Liver Injury ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:21106643|REF_RGD_ID:8655972 12116574 IL18 interleukin 18 gene DOID:9008856 HIV-Associated Lipodystrophy Syndrome ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:15353983|REF_RGD_ID:8655934 12116574 IL18 interleukin 18 gene DOID:9008856 HIV-Associated Lipodystrophy Syndrome susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human) PMID:20331838|REF_RGD_ID:8655915 12116574 IL18 interleukin 18 gene DOID:9065 leishmaniasis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16879623 12116574 IL18 interleukin 18 gene DOID:9065 leishmaniasis treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:10768930|REF_RGD_ID:8655909 12116574 IL18 interleukin 18 gene DOID:9146 visceral leishmaniasis susceptibility ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:16879623|REF_RGD_ID:8655922 12116574 IL18 interleukin 18 gene DOID:9452 fatty liver disease ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:19084941|REF_RGD_ID:4889416 12116574 IL18 interleukin 18 gene DOID:9675 pulmonary emphysema ISO RGD:2889 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:respiratory system fluid/secretion, macrophage PMID:23392573|REF_RGD_ID:8655969 12116574 IL18 interleukin 18 gene DOID:9675 pulmonary emphysema ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:17400729|REF_RGD_ID:4889590 12116574 IL18 interleukin 18 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18359638|REF_RGD_ID:8655935 12116574 IL18 interleukin 18 gene DOID:986 alopecia areata susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:-137G>C (rs187238), rs549908 (human) PMID:24446726|REF_RGD_ID:8655875 12116574 IL18 interleukin 18 gene DOID:9970 obesity ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:16732281|REF_RGD_ID:14695532 12116574 IL18 interleukin 18 gene DOID:9970 obesity treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:20490358|REF_RGD_ID:7175343 12116590 PIP5K1B phosphatidylinositol-4-phosphate 5-kinase type 1 beta gene DOID:630 genetic disease ISO RGD:1322093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116624 MCUB mitochondrial calcium uniporter dominant negative subunit beta gene DOID:630 genetic disease ISO RGD:1602886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116636 CD74 CD74 molecule gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12116636 CD74 CD74 molecule gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22919003 12116636 CD74 CD74 molecule gene DOID:630 genetic disease ISO RGD:1350471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116636 CD74 CD74 molecule gene DOID:9000918 Disease Progression ISO RGD:1350471 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34797429 12116636 CD74 CD74 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12116636 CD74 CD74 molecule gene DOID:9004590 Acute Liver Failure ISO RGD:1350471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16799971 12116636 CD74 CD74 molecule gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12116636 CD74 CD74 molecule gene DOID:9008939 Breast Neoplasms ISO RGD:1350471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19602265 12116652 DHRS7 dehydrogenase/reductase 7 gene DOID:630 genetic disease ISO RGD:1317573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116652 DHRS7 dehydrogenase/reductase 7 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1317573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29216386 12116652 DHRS7 dehydrogenase/reductase 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12116652 DHRS7 dehydrogenase/reductase 7 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1317573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12116652 DHRS7 dehydrogenase/reductase 7 gene DOID:9452 fatty liver disease ISO RGD:1317573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12116663 SIAH3 siah E3 ubiquitin protein ligase family member 3 gene DOID:630 genetic disease ISO RGD:1603255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116669 ALG6 ALG6 alpha-1,3-glucosyltransferase gene DOID:0080415 developmental and epileptic encephalopathy 23 ISO RGD:1318803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 PMID:28492532 12116669 ALG6 ALG6 alpha-1,3-glucosyltransferase gene DOID:0080555 congenital disorder of glycosylation Ic ISO RGD:1318803 D RGD:7240710 20180130 OMIM 12116669 ALG6 ALG6 alpha-1,3-glucosyltransferase gene DOID:0080555 congenital disorder of glycosylation Ic ISO RGD:1318803 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE V | ClinVar Annotator: match by term: CDG Ic | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1C | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ic PMID:10359825|PMID:10852543|PMID:10914684|PMID:10924277|PMID:11106564|PMID:11558905|PMID:12855228|PMID:14517965|PMID:15771971|PMID:16007612|PMID:16199547|PMID:16321363|PMID:17576681|PMID:18414213|PMID:19862844|PMID:20398363|PMID:20447155|PMID:21334936|PMID:21899441|PMID:23044053|PMID:23430515|PMID:25640679|PMID:25741868|PMID:26117549|PMID:26453362|PMID:27287710|PMID:27959697|PMID:28139241|PMID:28492532|PMID:31117816|PMID:32398770|PMID:35279850|PMID:9536098 12116669 ALG6 ALG6 alpha-1,3-glucosyltransferase gene DOID:1059 intellectual disability ISO RGD:1318803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12116669 ALG6 ALG6 alpha-1,3-glucosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1318803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 12116669 ALG6 ALG6 alpha-1,3-glucosyltransferase gene DOID:630 genetic disease ISO RGD:1318803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12116696 CCDC126 coiled-coil domain containing 126 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12116696 CCDC126 coiled-coil domain containing 126 gene DOID:630 genetic disease ISO RGD:1602081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116696 CCDC126 coiled-coil domain containing 126 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12116719 NSUN6 NOP2/Sun RNA methyltransferase 6 gene DOID:0050700 cardiomyopathy ISO RGD:1344487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28166811|PMID:28492532 12116719 NSUN6 NOP2/Sun RNA methyltransferase 6 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1344487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12116719 NSUN6 NOP2/Sun RNA methyltransferase 6 gene DOID:630 genetic disease ISO RGD:1344487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116719 NSUN6 NOP2/Sun RNA methyltransferase 6 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 12116719 NSUN6 NOP2/Sun RNA methyltransferase 6 gene DOID:9008939 Breast Neoplasms ISO RGD:1344487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 12116742 GPX1 glutathione peroxidase 1 gene DOID:0050083 Keshan disease ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.P198L (human) PMID:21055077|REF_RGD_ID:11352821 12116742 GPX1 glutathione peroxidase 1 gene DOID:0050866 oral squamous cell carcinoma exacerbates ISO RGD:737005 D RGD:9068941 20220623 RGD protein:increased expression:oral cavity (human) PMID:28653098|REF_RGD_ID:152995473 12116742 GPX1 glutathione peroxidase 1 gene DOID:0060060 non-Hodgkin lymphoma treatment ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:25016003|REF_RGD_ID:11352765 12116742 GPX1 glutathione peroxidase 1 gene DOID:0060852 Pierson syndrome ISO RGD:737005 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 12116742 GPX1 glutathione peroxidase 1 gene DOID:0070004 myeloid neoplasm ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.P198L (human) PMID:27077777|REF_RGD_ID:11352761 12116742 GPX1 glutathione peroxidase 1 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:10681 D RGD:9068941 20200609 RGD PMID:24597775|REF_RGD_ID:11352823 12116742 GPX1 glutathione peroxidase 1 gene DOID:0080600 COVID-19 ISO RGD:737005 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12116742 GPX1 glutathione peroxidase 1 gene DOID:10534 stomach cancer exacerbates ISO RGD:737005 D RGD:9068941 20220428 RGD protein:decreased expression:stomach (human) PMID:22843889|REF_RGD_ID:151665483 12116742 GPX1 glutathione peroxidase 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:737005 D RGD:9068941 20220623 RGD DNA:missense mutation, haplotype:CDS:p.P198L (human) PMID:19035188|REF_RGD_ID:152995456 12116742 GPX1 glutathione peroxidase 1 gene DOID:10763 hypertension ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21593737 12116742 GPX1 glutathione peroxidase 1 gene DOID:10763 hypertension ISO RGD:737005 D RGD:9068941 20200609 RGD protein,mRNA:decreased_expression:mononuclear_cells:after treatment, activity increased but mRNA expression decreased further PMID:17198913|REF_RGD_ID:1600704 12116742 GPX1 glutathione peroxidase 1 gene DOID:10763 hypertension treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:21210316|PMID:23752977|REF_RGD_ID:11352825|REF_RGD_ID:11353777 12116742 GPX1 glutathione peroxidase 1 gene DOID:10923 sickle cell anemia ISO RGD:10681 D RGD:9068941 20200609 RGD protein:decreased expression:penis PMID:22620981|REF_RGD_ID:11352757 12116742 GPX1 glutathione peroxidase 1 gene DOID:10923 sickle cell anemia ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:20846340|REF_RGD_ID:11352775 12116742 GPX1 glutathione peroxidase 1 gene DOID:10923 sickle cell anemia treatment ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:19951064|REF_RGD_ID:11352756 12116742 GPX1 glutathione peroxidase 1 gene DOID:1099 alpha thalassemia ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:24577940|REF_RGD_ID:11352811 12116742 GPX1 glutathione peroxidase 1 gene DOID:11054 urinary bladder cancer ISO RGD:737005 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:15247771|PMID:35764155 12116742 GPX1 glutathione peroxidase 1 gene DOID:11476 osteoporosis ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12116742 GPX1 glutathione peroxidase 1 gene DOID:11713 diabetic angiopathy ISO RGD:737005 D RGD:9068941 20200609 RGD cardiovascular complications in type 2 diabetics; protein:reduced_activity:blood PMID:16338763|REF_RGD_ID:1600708 12116742 GPX1 glutathione peroxidase 1 gene DOID:11714 gestational diabetes ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:22342560|REF_RGD_ID:11353780 12116742 GPX1 glutathione peroxidase 1 gene DOID:11758 iron deficiency anemia ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:7861256|REF_RGD_ID:11352760 12116742 GPX1 glutathione peroxidase 1 gene DOID:11758 iron deficiency anemia treatment ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic PMID:24691014|REF_RGD_ID:11352819 12116742 GPX1 glutathione peroxidase 1 gene DOID:1240 leukemia ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:17205986|REF_RGD_ID:11352809 12116742 GPX1 glutathione peroxidase 1 gene DOID:12849 autistic disorder ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19195803 12116742 GPX1 glutathione peroxidase 1 gene DOID:12858 Huntington's disease ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:18588971|REF_RGD_ID:13432193 12116742 GPX1 glutathione peroxidase 1 gene DOID:1287 cardiovascular system disease ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14573732 12116742 GPX1 glutathione peroxidase 1 gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P198L (human) PMID:15331559|REF_RGD_ID:2306612 12116742 GPX1 glutathione peroxidase 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18940188 12116742 GPX1 glutathione peroxidase 1 gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.P198L (human) PMID:18940188|REF_RGD_ID:2306616 12116742 GPX1 glutathione peroxidase 1 gene DOID:13001 carotid stenosis ISO RGD:10681 D RGD:9068941 20200609 RGD PMID:23426106|REF_RGD_ID:11352755 12116742 GPX1 glutathione peroxidase 1 gene DOID:1324 lung cancer ISO RGD:737005 D RGD:9068941 20220428 RGD DNA:missense mutation:CDS:p.P198L (human) PMID:16615267|REF_RGD_ID:152023634 12116742 GPX1 glutathione peroxidase 1 gene DOID:1324 lung cancer exacerbates ISO RGD:737005 D RGD:9068941 20220623 RGD DNA:mutations:multiple (human) PMID:32850411|REF_RGD_ID:152995450 12116742 GPX1 glutathione peroxidase 1 gene DOID:1324 lung cancer susceptibility ISO RGD:737005 D RGD:9068941 20220630 RGD DNA:missense mutation:CDS: (rs1050450) (human) PMID:23516596|REF_RGD_ID:152998903 12116742 GPX1 glutathione peroxidase 1 gene DOID:1324 lung cancer susceptibility ISO RGD:737005 D RGD:9068941 20220630 RGD DNA:missense mutation:CDS:p.P198L (human) PMID:11103801|PMID:15192016|REF_RGD_ID:152995449|REF_RGD_ID:152995506 12116742 GPX1 glutathione peroxidase 1 gene DOID:14330 Parkinson's disease ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15824117 12116742 GPX1 glutathione peroxidase 1 gene DOID:1459 hypothyroidism treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:22733496|REF_RGD_ID:7257534 12116742 GPX1 glutathione peroxidase 1 gene DOID:1596 depressive disorder ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:23707456|REF_RGD_ID:11352766 12116742 GPX1 glutathione peroxidase 1 gene DOID:1612 breast cancer susceptibility ISO RGD:737005 D RGD:9068941 20220623 RGD DNA:repeat:CDS: (human) PMID:14744747|REF_RGD_ID:152995457 12116742 GPX1 glutathione peroxidase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15557674 12116742 GPX1 glutathione peroxidase 1 gene DOID:182 calcinosis susceptibility ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P197L (human) PMID:17825092|REF_RGD_ID:2306608 12116742 GPX1 glutathione peroxidase 1 gene DOID:1826 epilepsy ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19499324 12116742 GPX1 glutathione peroxidase 1 gene DOID:2018 hyperinsulinism ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15184668|PMID:18560803 12116742 GPX1 glutathione peroxidase 1 gene DOID:219 colon cancer ISO RGD:737005 D RGD:9068941 20220630 RGD mRNA, protein:increased expression:colon (human) PMID:21868509|REF_RGD_ID:152995496 12116742 GPX1 glutathione peroxidase 1 gene DOID:219 colon cancer treatment ISO RGD:10681 D RGD:9068941 20220624 RGD associated with Inflammation PMID:28045589|REF_RGD_ID:152995480 12116742 GPX1 glutathione peroxidase 1 gene DOID:2316 brain ischemia ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12531513 12116742 GPX1 glutathione peroxidase 1 gene DOID:2349 arteriosclerosis ISO RGD:10681 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17420349|REF_RGD_ID:2306610 12116742 GPX1 glutathione peroxidase 1 gene DOID:2355 anemia ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:8939405|REF_RGD_ID:11352778 12116742 GPX1 glutathione peroxidase 1 gene DOID:2355 anemia treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:21422078|REF_RGD_ID:11352776 12116742 GPX1 glutathione peroxidase 1 gene DOID:2527 nephrosis ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:22046528|REF_RGD_ID:7240570 12116742 GPX1 glutathione peroxidase 1 gene DOID:2596 larynx cancer susceptibility ISO RGD:737005 D RGD:9068941 20220630 RGD DNA:missense mutation:CDS: (rs1050450) (human) PMID:23516596|REF_RGD_ID:152998903 12116742 GPX1 glutathione peroxidase 1 gene DOID:2671 transitional cell carcinoma ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15247771 12116742 GPX1 glutathione peroxidase 1 gene DOID:2738 pseudoxanthoma elasticum onset ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:c.593C>T (rs1050450) PMID:17693525|REF_RGD_ID:8547520 12116742 GPX1 glutathione peroxidase 1 gene DOID:285 hairy cell leukemia ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:8843970|REF_RGD_ID:11353776 12116742 GPX1 glutathione peroxidase 1 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:737005 D RGD:9068941 20220623 RGD DNA:missense mutation:CDS:p.P198L (rs1050450) (human) PMID:27188866|REF_RGD_ID:152995455 12116742 GPX1 glutathione peroxidase 1 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:737005 D RGD:9068941 20220623 RGD protein:increased expression:larynx (human) PMID:28641905|REF_RGD_ID:152995454 12116742 GPX1 glutathione peroxidase 1 gene DOID:2876 laryngeal squamous cell carcinoma no_association ISO RGD:737005 D RGD:9068941 20220630 RGD DNA:missense mutation:CDS:p.P198L (human) PMID:24074040|REF_RGD_ID:152995493 12116742 GPX1 glutathione peroxidase 1 gene DOID:3393 coronary artery disease ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:repeat:exon PMID:12655278|REF_RGD_ID:1600677 12116742 GPX1 glutathione peroxidase 1 gene DOID:3393 coronary artery disease ISO RGD:737005 D RGD:9068941 20200609 RGD cardiovascular complications in type 2 diabetics; protein:reduced_activity:blood PMID:16338763|REF_RGD_ID:1600708 12116742 GPX1 glutathione peroxidase 1 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:737005 D RGD:9068941 20220623 RGD protein:decreased expression:mucosa of stomach (human) PMID:24228025|REF_RGD_ID:152995446 12116742 GPX1 glutathione peroxidase 1 gene DOID:3717 gastric adenocarcinoma susceptibility ISO RGD:737005 D RGD:9068941 20220630 RGD mRNA:decreased expression:stomach, erythrocyte, lymphocyte (human) PMID:27957666|REF_RGD_ID:152998894 12116742 GPX1 glutathione peroxidase 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:737005 D RGD:9068941 20220630 RGD DNA:missense mutation:CDS:p.P200L (rs1050450) (human) PMID:18298806|REF_RGD_ID:152995507 12116742 GPX1 glutathione peroxidase 1 gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:737005 D RGD:9068941 20220624 RGD DNA:missense mutation:CDS:p.P198L (rs1050450) (human) PMID:16797832|REF_RGD_ID:152995481 12116742 GPX1 glutathione peroxidase 1 gene DOID:3908 lung non-small cell carcinoma onset ISO RGD:737005 D RGD:9068941 20220630 RGD mRNA:increased expression:leukocyte (human) PMID:33474835|REF_RGD_ID:152998904 12116742 GPX1 glutathione peroxidase 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:737005 D RGD:9068941 20220630 RGD DNA:SNP: (human) PMID:19347979|REF_RGD_ID:152998881 12116742 GPX1 glutathione peroxidase 1 gene DOID:4195 hyperglycemia ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15184668 12116742 GPX1 glutathione peroxidase 1 gene DOID:4195 hyperglycemia treatment ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:19819955|REF_RGD_ID:11353779 12116742 GPX1 glutathione peroxidase 1 gene DOID:5517 stomach carcinoma exacerbates ISO RGD:737005 D RGD:9068941 20220428 RGD protein:decreased expression:stomach (human) PMID:8001233|REF_RGD_ID:152023661 12116742 GPX1 glutathione peroxidase 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:14573732|REF_RGD_ID:1600662 12116742 GPX1 glutathione peroxidase 1 gene DOID:630 genetic disease ISO RGD:737005 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12116742 GPX1 glutathione peroxidase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:730872 D RGD:9068941 20220415 RGD associated with alcoholic liver cirrhosis;DNA:missense mutation:CDS:p.P198L (human) PMID:16510607|REF_RGD_ID:151708729 12116742 GPX1 glutathione peroxidase 1 gene DOID:684 hepatocellular carcinoma no_association ISO RGD:737005 D RGD:9068941 20220701 RGD DNA:missense mutation:CDS:p.P198L (human) PMID:25894370|REF_RGD_ID:152998906 12116742 GPX1 glutathione peroxidase 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:737005 D RGD:9068941 20220415 RGD associated with hepatitis C;DNA:missense mutation:CDS:p.P198L (rs1050450) (human) PMID:26990426|REF_RGD_ID:11533013 12116742 GPX1 glutathione peroxidase 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732740 D RGD:9068941 20220624 RGD PMID:19929244|REF_RGD_ID:152995483 12116742 GPX1 glutathione peroxidase 1 gene DOID:784 chronic kidney disease treatment ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:15954914|REF_RGD_ID:11352759 12116742 GPX1 glutathione peroxidase 1 gene DOID:7998 hyperthyroidism ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:19914224|REF_RGD_ID:9068475 12116742 GPX1 glutathione peroxidase 1 gene DOID:7998 hyperthyroidism ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19914224 12116742 GPX1 glutathione peroxidase 1 gene DOID:83 cataract ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:23194826|REF_RGD_ID:11353787 12116742 GPX1 glutathione peroxidase 1 gene DOID:8552 chronic myeloid leukemia no_association ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.P198L (human) PMID:25436036|REF_RGD_ID:11352762 12116742 GPX1 glutathione peroxidase 1 gene DOID:8577 ulcerative colitis ISO RGD:737005 D RGD:9068941 20200609 RGD protein:decreased expression:erythrocyte PMID:20186929|REF_RGD_ID:11352754 12116742 GPX1 glutathione peroxidase 1 gene DOID:8725 vascular dementia treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:24968700|REF_RGD_ID:11352822 12116742 GPX1 glutathione peroxidase 1 gene DOID:8778 Crohn's disease ISO RGD:737005 D RGD:9068941 20200609 RGD protein:decreased expression:erythrocyte PMID:20186929|REF_RGD_ID:11352754 12116742 GPX1 glutathione peroxidase 1 gene DOID:8923 skin melanoma ISO RGD:737005 D RGD:9068941 20220428 RGD mRNA:increased expression:skin of body (human) PMID:29535818|REF_RGD_ID:152023655 12116742 GPX1 glutathione peroxidase 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:737005 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 12116742 GPX1 glutathione peroxidase 1 gene DOID:9000582 Reticulocytosis ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:6320862|REF_RGD_ID:11353799 12116742 GPX1 glutathione peroxidase 1 gene DOID:9000998 Brain Injuries ISO RGD:2729 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus, neuron PMID:15791111|REF_RGD_ID:2306624 12116742 GPX1 glutathione peroxidase 1 gene DOID:9001109 Anorexia treatment ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Uremia PMID:12005352|REF_RGD_ID:11352773 12116742 GPX1 glutathione peroxidase 1 gene DOID:9001191 Cadmium Poisoning treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:24954678|REF_RGD_ID:11352769 12116742 GPX1 glutathione peroxidase 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:737005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12116742 GPX1 glutathione peroxidase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:10681 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus PMID:17609286|REF_RGD_ID:2306609 12116742 GPX1 glutathione peroxidase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:16249459|REF_RGD_ID:11068479 12116742 GPX1 glutathione peroxidase 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16844917|REF_RGD_ID:2306611 12116742 GPX1 glutathione peroxidase 1 gene DOID:9003298 Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to ISO RGD:737005 D RGD:7240710 20180130 OMIM 12116742 GPX1 glutathione peroxidase 1 gene DOID:9003298 Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to ISO RGD:737005 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glutathione peroxidase deficiency PMID:10220143|PMID:25741868 12116742 GPX1 glutathione peroxidase 1 gene DOID:9003603 Hemolysis ISO RGD:737005 D RGD:9068941 20200609 RGD following reinfusion of stored blood PMID:5766310|REF_RGD_ID:1600671 12116742 GPX1 glutathione peroxidase 1 gene DOID:9003709 Mercury Poisoning ISO RGD:10681 D RGD:9068941 20200609 RGD PMID:18758054|REF_RGD_ID:7240571 12116742 GPX1 glutathione peroxidase 1 gene DOID:9003871 Venous Thrombosis ISO RGD:10681 D RGD:9068941 20200609 RGD PMID:23426106|REF_RGD_ID:11352755 12116742 GPX1 glutathione peroxidase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23743330 12116742 GPX1 glutathione peroxidase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11103801 12116742 GPX1 glutathione peroxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:18387670|REF_RGD_ID:2306607 12116742 GPX1 glutathione peroxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2729 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus PMID:15039483|REF_RGD_ID:2306161 12116742 GPX1 glutathione peroxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2729 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19229592|REF_RGD_ID:2306606 12116742 GPX1 glutathione peroxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12116742 GPX1 glutathione peroxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:25744399|REF_RGD_ID:11353782 12116742 GPX1 glutathione peroxidase 1 gene DOID:9005725 Iron Overload ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia PMID:16317757|REF_RGD_ID:11352779 12116742 GPX1 glutathione peroxidase 1 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15557674 12116742 GPX1 glutathione peroxidase 1 gene DOID:9006553 Hyperthermia ISO RGD:737005 D RGD:9068941 20211015 CTD CTD Direct Evidence: therapeutic PMID:34082047 12116742 GPX1 glutathione peroxidase 1 gene DOID:9007188 Liver Neoplasms treatment ISO RGD:10681 D RGD:9068941 20220623 RGD PMID:26147624|REF_RGD_ID:152995453 12116742 GPX1 glutathione peroxidase 1 gene DOID:9008510 Chronic Hepatitis ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 12116742 GPX1 glutathione peroxidase 1 gene DOID:9008691 Liver Injury treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:23750655|REF_RGD_ID:11353785 12116742 GPX1 glutathione peroxidase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12810669 12116742 GPX1 glutathione peroxidase 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:SNP: :c.599C>T (rs1050450) (human) PMID:26950655|REF_RGD_ID:11061784 12116742 GPX1 glutathione peroxidase 1 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.P198L (human) PMID:26823947|REF_RGD_ID:11061561 12116742 GPX1 glutathione peroxidase 1 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:22930375|REF_RGD_ID:11352817 12116742 GPX1 glutathione peroxidase 1 gene DOID:9256 colorectal cancer ISO RGD:737005 D RGD:9068941 20220428 RGD mRNA:decreased expression:colorectum (human) PMID:25550558|REF_RGD_ID:152023662 12116742 GPX1 glutathione peroxidase 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:737005 D RGD:9068941 20220428 RGD DNA:missense mutation:CDS:p.P198L (human) PMID:19428376|REF_RGD_ID:152023636 12116742 GPX1 glutathione peroxidase 1 gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:737005 D RGD:9068941 20220623 RGD DNA:missense mutation:CDS:p.P198L (human) PMID:33616746|REF_RGD_ID:152995452 12116742 GPX1 glutathione peroxidase 1 gene DOID:9268 glycine encephalopathy ISO RGD:737005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:28492532 12116742 GPX1 glutathione peroxidase 1 gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:24563435|REF_RGD_ID:11035307 12116742 GPX1 glutathione peroxidase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366|PMID:23795780 12116742 GPX1 glutathione peroxidase 1 gene DOID:9452 fatty liver disease ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10860543 12116742 GPX1 glutathione peroxidase 1 gene DOID:9538 multiple myeloma ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:8599825|REF_RGD_ID:11352777 12116742 GPX1 glutathione peroxidase 1 gene DOID:9669 senile cataract ISO RGD:10681 D RGD:9068941 20200609 RGD PMID:16129095|REF_RGD_ID:10003112 12116742 GPX1 glutathione peroxidase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:24698347|REF_RGD_ID:11352812 12116742 GPX1 glutathione peroxidase 1 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:17317918|REF_RGD_ID:11352774 12116742 GPX1 glutathione peroxidase 1 gene DOID:9970 obesity ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15184668 12116748 NASP nuclear autoantigenic sperm protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12116748 NASP nuclear autoantigenic sperm protein gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12116748 NASP nuclear autoantigenic sperm protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12116748 NASP nuclear autoantigenic sperm protein gene DOID:2394 ovarian cancer ISO RGD:1605124 D RGD:9068941 20200609 RGD protein:increased expression:ovary (human) PMID:20164540|REF_RGD_ID:9590111 12116748 NASP nuclear autoantigenic sperm protein gene DOID:630 genetic disease ISO RGD:1605124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116748 NASP nuclear autoantigenic sperm protein gene DOID:9007456 Female Infertility ISO RGD:1552828 D RGD:9068941 20200609 RGD PMID:19219058|REF_RGD_ID:9590110 12116774 INTS4 integrator complex subunit 4 gene DOID:1059 intellectual disability ISO RGD:1603936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12116774 INTS4 integrator complex subunit 4 gene DOID:630 genetic disease ISO RGD:1603936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116774 INTS4 integrator complex subunit 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1603936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 12116801 UBE2E1 ubiquitin conjugating enzyme E2 E1 gene DOID:37 skin disease ISO RGD:1354241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12116801 UBE2E1 ubiquitin conjugating enzyme E2 E1 gene DOID:630 genetic disease ISO RGD:1354241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116801 UBE2E1 ubiquitin conjugating enzyme E2 E1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1354241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12116801 UBE2E1 ubiquitin conjugating enzyme E2 E1 gene DOID:9007964 Arsenic Poisoning ISO RGD:1354241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12116810 CHFR checkpoint with forkhead and ring finger domains gene DOID:3908 lung non-small cell carcinoma ISO RGD:1314932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20705357 12116810 CHFR checkpoint with forkhead and ring finger domains gene DOID:630 genetic disease ISO RGD:1314932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116810 CHFR checkpoint with forkhead and ring finger domains gene DOID:9000217 Stomach Neoplasms ISO RGD:1314932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12116810 CHFR checkpoint with forkhead and ring finger domains gene DOID:9007715 Endometrial Neoplasms ISO RGD:1314932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17143476 12116810 CHFR checkpoint with forkhead and ring finger domains gene DOID:9256 colorectal cancer ISO RGD:1314932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 12116841 RB1CC1 RB1 inducible coiled-coil 1 gene DOID:12849 autistic disorder ISO RGD:1319644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12116841 RB1CC1 RB1 inducible coiled-coil 1 gene DOID:1612 breast cancer ISO RGD:1319644 D RGD:7240710 20180711 OMIM 12116841 RB1CC1 RB1 inducible coiled-coil 1 gene DOID:3458 breast adenocarcinoma ISO RGD:1319644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast adenocarcinoma PMID:12068296 12116841 RB1CC1 RB1 inducible coiled-coil 1 gene DOID:5419 schizophrenia ISO RGD:1319644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12116841 RB1CC1 RB1 inducible coiled-coil 1 gene DOID:630 genetic disease ISO RGD:1319644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116841 RB1CC1 RB1 inducible coiled-coil 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1319644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12116841 RB1CC1 RB1 inducible coiled-coil 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1319644 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 12116877 FAN1 FANCD2 and FANCI associated nuclease 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1604829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:19050728|PMID:19289393|PMID:21844811|PMID:23044707|PMID:25255310|PMID:25741868|PMID:27569545 12116877 FAN1 FANCD2 and FANCI associated nuclease 1 gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:1604829 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome PMID:31690835 12116877 FAN1 FANCD2 and FANCI associated nuclease 1 gene DOID:0060911 karyomegalic interstitial nephritis ISO RGD:1604829 D RGD:7240710 20180130 OMIM 12116877 FAN1 FANCD2 and FANCI associated nuclease 1 gene DOID:0060911 karyomegalic interstitial nephritis ISO RGD:1604829 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Karyomegalic interstitial nephritis PMID:16678356|PMID:17304531|PMID:20621605|PMID:22772369|PMID:25741868|PMID:27196444|PMID:28492532|PMID:29590070|PMID:30773290|PMID:32111193|PMID:32220227|PMID:7847351|PMID:8546134 12116877 FAN1 FANCD2 and FANCI associated nuclease 1 gene DOID:12849 autistic disorder ISO RGD:1604829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12116877 FAN1 FANCD2 and FANCI associated nuclease 1 gene DOID:5419 schizophrenia ISO RGD:1604829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12116877 FAN1 FANCD2 and FANCI associated nuclease 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1604829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 12116877 FAN1 FANCD2 and FANCI associated nuclease 1 gene DOID:630 genetic disease ISO RGD:1604829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12116877 FAN1 FANCD2 and FANCI associated nuclease 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12116877 FAN1 FANCD2 and FANCI associated nuclease 1 gene DOID:9004652 Megalocytic Interstitial Nephritis ISO RGD:1604829 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22772369 12116877 FAN1 FANCD2 and FANCI associated nuclease 1 gene DOID:9256 colorectal cancer ISO RGD:1604829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 12116914 IVNS1ABP influenza virus NS1A binding protein gene DOID:0112005 immunodeficiency 70 ISO RGD:1314824 D RGD:7240710 20200812 OMIM 12116914 IVNS1ABP influenza virus NS1A binding protein gene DOID:0112005 immunodeficiency 70 ISO RGD:1314824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 70 PMID:32499645 12116914 IVNS1ABP influenza virus NS1A binding protein gene DOID:1540 parathyroid carcinoma ISO RGD:1314824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12116914 IVNS1ABP influenza virus NS1A binding protein gene DOID:630 genetic disease ISO RGD:1314824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116914 IVNS1ABP influenza virus NS1A binding protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 12116914 IVNS1ABP influenza virus NS1A binding protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12116939 GPM6B glycoprotein M6B gene DOID:12849 autistic disorder ISO RGD:1349867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12116939 GPM6B glycoprotein M6B gene DOID:630 genetic disease ISO RGD:1349867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12116939 GPM6B glycoprotein M6B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12116962 THOC2 THO complex subunit 2 gene DOID:0060706 X-linked lymphoproliferative syndrome 2 ISO RGD:1353819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked PMID:17080092|PMID:17989220|PMID:21119115|PMID:25666262|PMID:26581487|PMID:28492532 12116962 THOC2 THO complex subunit 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12116962 THOC2 THO complex subunit 2 gene DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome ISO RGD:1353819 D RGD:7240710 20180130 OMIM 12116962 THOC2 THO complex subunit 2 gene DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome ISO RGD:1353819 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability-short stature-overweight syndrome PMID:1605217|PMID:25741868|PMID:26166480|PMID:28492532|PMID:8825049 12116962 THOC2 THO complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:1353819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12116962 THOC2 THO complex subunit 2 gene DOID:12849 autistic disorder ISO RGD:1353819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12116962 THOC2 THO complex subunit 2 gene DOID:630 genetic disease ISO RGD:1353819 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12116962 THOC2 THO complex subunit 2 gene DOID:9003937 X Chromosome, Trisomy Xq25 ISO RGD:1353819 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Xq25 duplication syndrome 12116962 THOC2 THO complex subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12117016 H2BC26 H2B clustered histone 26 gene DOID:1540 parathyroid carcinoma ISO RGD:1312718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12117016 H2BC26 H2B clustered histone 26 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12117021 MMAA metabolism of cobalamin associated A gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1312825 D RGD:7240710 20180130 OMIM 12117021 MMAA metabolism of cobalamin associated A gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1312825 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:12438653|PMID:15308131|PMID:15523652|PMID:15781192|PMID:16199547|PMID:16247646|PMID:17576681|PMID:17728257|PMID:17957493|PMID:20549364|PMID:21048060|PMID:21114891|PMID:21545677|PMID:22614770|PMID:22661206|PMID:23026888|PMID:23711287|PMID:23716945|PMID:24033266|PMID:24059531|PMID:24095221|PMID:25525159|PMID:25636100|PMID:25741868|PMID:25748407|PMID:25959030|PMID:26270765|PMID:26370686|PMID:27591164|PMID:27858373|PMID:28492532|PMID:28497574|PMID:29996803|PMID:31497484|PMID:31622506|PMID:32034731|PMID:32754920|PMID:33029243|PMID:33726816|PMID:35618652|PMID:9536098 12117021 MMAA metabolism of cobalamin associated A gene DOID:14749 methylmalonic acidemia ISO RGD:1312825 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:12438653|PMID:15308131|PMID:15523652|PMID:15781192|PMID:16247646|PMID:17728257|PMID:17957493|PMID:20549364|PMID:21048060|PMID:21114891|PMID:21545677|PMID:22614770|PMID:22661206|PMID:23026888|PMID:23711287|PMID:24033266|PMID:24059531|PMID:24095221|PMID:25525159|PMID:25636100|PMID:25741868|PMID:25748407|PMID:25959030|PMID:26270765|PMID:26370686|PMID:27591164|PMID:28492532|PMID:28497574|PMID:32754920|PMID:33029243|PMID:33726816|PMID:35618652 12117021 MMAA metabolism of cobalamin associated A gene DOID:630 genetic disease ISO RGD:1312825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12117021 MMAA metabolism of cobalamin associated A gene DOID:83 cataract ISO RGD:1312825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:25741868|PMID:28492532 12117021 MMAA metabolism of cobalamin associated A gene DOID:9005835 Congenital Abnormalities ISO RGD:1312825 D RGD:9068941 20200609 RGD methylmalonic aciduria, OMIM:251100 PMID:15523652|REF_RGD_ID:1600803 12117049 KIAA1549L KIAA1549 like gene DOID:1059 intellectual disability ISO RGD:1604377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12117049 KIAA1549L KIAA1549 like gene DOID:630 genetic disease ISO RGD:1604377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117089 LHFPL4 LHFPL tetraspan subfamily member 4 gene DOID:2843 long QT syndrome ISO RGD:1604456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12117089 LHFPL4 LHFPL tetraspan subfamily member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12117089 LHFPL4 LHFPL tetraspan subfamily member 4 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1604456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12117096 MIDN midnolin gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1320070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 12117096 MIDN midnolin gene DOID:5339 cyclic hematopoiesis ISO RGD:1320070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12117096 MIDN midnolin gene DOID:630 genetic disease ISO RGD:1320070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117116 OR51F23 olfactory receptor family 51 subfamily F member 23 gene DOID:0080773 delta beta-thalassemia ISO RGD:1343067 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12117122 STT3B STT3 oligosaccharyltransferase complex catalytic subunit B gene DOID:0080573 congenital disorder of glycosylation Ix ISO RGD:1606939 D RGD:7240710 20180130 OMIM 12117122 STT3B STT3 oligosaccharyltransferase complex catalytic subunit B gene DOID:0080573 congenital disorder of glycosylation Ix ISO RGD:1606939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CDG Ix | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1x PMID:17576681|PMID:23842455|PMID:25741868|PMID:28492532|PMID:32253875|PMID:9536098 12117122 STT3B STT3 oligosaccharyltransferase complex catalytic subunit B gene DOID:630 genetic disease ISO RGD:1606939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12117142 RNF17 ring finger protein 17 gene DOID:0050569 Seckel syndrome ISO RGD:1321415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome 12117142 RNF17 ring finger protein 17 gene DOID:0070010 Seckel syndrome 4 ISO RGD:1321415 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seckel syndrome 4 PMID:18414213|PMID:20301772|PMID:20522431|PMID:24402816|PMID:25741868|PMID:26467025|PMID:28492532 12117142 RNF17 ring finger protein 17 gene DOID:0070012 Seckel syndrome 5 ISO RGD:1321415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome 5 12117142 RNF17 ring finger protein 17 gene DOID:0070285 primary autosomal recessive microcephaly 1 ISO RGD:1321415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:25741868 12117142 RNF17 ring finger protein 17 gene DOID:0070290 primary autosomal recessive microcephaly 6 ISO RGD:1321415 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive PMID:15793586|PMID:18414213|PMID:20301772|PMID:24402816|PMID:25741868|PMID:26467025|PMID:28492532 12117142 RNF17 ring finger protein 17 gene DOID:10907 microcephaly ISO RGD:1321415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary Microcephaly, Recessive 12117142 RNF17 ring finger protein 17 gene DOID:630 genetic disease ISO RGD:1321415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 12117142 RNF17 ring finger protein 17 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12117179 ANHX anomalous homeobox gene DOID:630 genetic disease ISO RGD:6483645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117192 SP3 Sp3 transcription factor gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1319818 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12117192 SP3 Sp3 transcription factor gene DOID:630 genetic disease ISO RGD:1319818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117203 KIF7 kinesin family member 7 gene DOID:0050753 cerebellar ataxia ISO RGD:1343265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:28492532|PMID:29286531 12117203 KIF7 kinesin family member 7 gene DOID:0050777 Joubert syndrome ISO RGD:1343265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:21633164|PMID:25741868|PMID:28492532 12117203 KIF7 kinesin family member 7 gene DOID:0050779 hydrolethalus syndrome ISO RGD:1321141 D RGD:9068941 20220825 MouseDO OMIM:236680 | OMIM:614120 12117203 KIF7 kinesin family member 7 gene DOID:0050779 hydrolethalus syndrome ISO RGD:1343265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552264 12117203 KIF7 kinesin family member 7 gene DOID:0060250 idiopathic scoliosis ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 PMID:21552264|PMID:25741868|PMID:28492532 12117203 KIF7 kinesin family member 7 gene DOID:0060340 ciliopathy ISO RGD:1321141 D RGD:9068941 20220825 MouseDO 12117203 KIF7 kinesin family member 7 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1343265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12117203 KIF7 kinesin family member 7 gene DOID:0111355 hydrolethalus syndrome 1 ISO RGD:1343265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12117203 KIF7 kinesin family member 7 gene DOID:0111356 hydrolethalus syndrome 2 ISO RGD:1343265 D RGD:7240710 20180130 OMIM 12117203 KIF7 kinesin family member 7 gene DOID:0111356 hydrolethalus syndrome 2 ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrolethalus syndrome 2 PMID:16199547|PMID:19666503|PMID:21552264|PMID:21633164|PMID:25741868|PMID:26648833|PMID:28492532 12117203 KIF7 kinesin family member 7 gene DOID:1059 intellectual disability ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21552264|PMID:21633164|PMID:25741868|PMID:26092869|PMID:28492532 12117203 KIF7 kinesin family member 7 gene DOID:12712 nephronophthisis ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:21552264|PMID:25741868|PMID:28492532 12117203 KIF7 kinesin family member 7 gene DOID:2717 Bloom syndrome ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12117203 KIF7 kinesin family member 7 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1310310 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:diaphragmatic mesenchyme, pulmonary mesenchyme; PMID:25921351|REF_RGD_ID:11553839 12117203 KIF7 kinesin family member 7 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1321141 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 12117203 KIF7 kinesin family member 7 gene DOID:630 genetic disease ISO RGD:1343265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:18414213|PMID:19666503|PMID:21552264|PMID:21633164|PMID:25131622|PMID:25741868|PMID:26174511|PMID:26648833|PMID:28492532|PMID:29915382 12117203 KIF7 kinesin family member 7 gene DOID:674 cleft palate ISO RGD:1343265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552264 12117203 KIF7 kinesin family member 7 gene DOID:9000923 Joubert Syndrome 12 ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 12 PMID:21633164|PMID:22246503 12117203 KIF7 kinesin family member 7 gene DOID:9001875 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-limb skeletal dysplasia with severe combined immunodeficiency PMID:25741868 12117203 KIF7 kinesin family member 7 gene DOID:9003677 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies ISO RGD:1343265 D RGD:7240710 20190315 OMIM 12117203 KIF7 kinesin family member 7 gene DOID:9003677 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly with multiple epiphyseal dysplasia and distinctive facies PMID:21552264|PMID:22587682|PMID:25741868|PMID:28492532|PMID:9689990 12117203 KIF7 kinesin family member 7 gene DOID:9250 acrocallosal syndrome ISO RGD:1343265 D RGD:7240710 20180130 OMIM 12117203 KIF7 kinesin family member 7 gene DOID:9250 acrocallosal syndrome ISO RGD:1343265 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome | ClinVar Annotator: match by term: Joubert syndrome 12/15, digenic | ClinVar Annotator: match by term: Schinzel syndrome 1 PMID:16199547|PMID:17576681|PMID:18414213|PMID:19666503|PMID:21552264|PMID:21633164|PMID:22246503|PMID:22587682|PMID:23125460|PMID:24033266|PMID:24339784|PMID:25131622|PMID:25640679|PMID:25741868|PMID:26092869|PMID:26174511|PMID:26349186|PMID:26633542|PMID:26648833|PMID:27081521|PMID:28492532|PMID:28805617|PMID:29286531|PMID:29321670|PMID:29915382|PMID:30315573|PMID:31399769|PMID:32164589|PMID:32738303|PMID:9536098 12117203 KIF7 kinesin family member 7 gene DOID:9256 colorectal cancer ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12117203 KIF7 kinesin family member 7 gene DOID:9296 cleft lip ISO RGD:1343265 D RGD:9068941 20200609 RGD DNA:SNPs:introns:rs4932238,rs4932240(human) PMID:26602496|REF_RGD_ID:11553833 12117232 WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1342711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12117232 WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1342711 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12117232 WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 gene DOID:1826 epilepsy ISO RGD:1342711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12117232 WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1342711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12117232 WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 gene DOID:630 genetic disease ISO RGD:1342711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117238 TMEM63A transmembrane protein 63A gene DOID:10579 leukodystrophy ISO RGD:1605419 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:25741868|PMID:31587869 12117238 TMEM63A transmembrane protein 63A gene DOID:1227 neutropenia ISO RGD:1605419 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 12117238 TMEM63A transmembrane protein 63A gene DOID:1540 parathyroid carcinoma ISO RGD:1605419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12117238 TMEM63A transmembrane protein 63A gene DOID:630 genetic disease ISO RGD:1605419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117238 TMEM63A transmembrane protein 63A gene DOID:9000217 Stomach Neoplasms ISO RGD:1605419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12117238 TMEM63A transmembrane protein 63A gene DOID:9000918 Disease Progression ISO RGD:1605419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12117238 TMEM63A transmembrane protein 63A gene DOID:9006466 Hypomyelinating Leukodystrophy 19 ISO RGD:1605419 D RGD:7240710 20191225 OMIM 12117238 TMEM63A transmembrane protein 63A gene DOID:9006466 Hypomyelinating Leukodystrophy 19 ISO RGD:1605419 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 19, transient infantile PMID:25741868|PMID:31587869|PMID:33785861 12117238 TMEM63A transmembrane protein 63A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12117271 ADAMTSL2 ADAMTS like 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1343515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12117271 ADAMTSL2 ADAMTS like 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1343515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12117271 ADAMTSL2 ADAMTS like 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1343515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12117271 ADAMTSL2 ADAMTS like 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1343515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12117271 ADAMTSL2 ADAMTS like 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1343515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12117271 ADAMTSL2 ADAMTS like 2 gene DOID:0111243 acromicric dysplasia ISO RGD:1343515 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Geleophysic dwarfism PMID:24014090 12117271 ADAMTSL2 ADAMTS like 2 gene DOID:0111724 geleophysic dysplasia ISO RGD:1343515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 12117271 ADAMTSL2 ADAMTS like 2 gene DOID:0111725 geleophysic dysplasia 1 ISO RGD:1343515 D RGD:7240710 20180130 OMIM 12117271 ADAMTSL2 ADAMTS like 2 gene DOID:0111725 geleophysic dysplasia 1 ISO RGD:1343515 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 1 PMID:18677313|PMID:20301776|PMID:21415077|PMID:24014090|PMID:25741868|PMID:28492532|PMID:30174453|PMID:30195254 12117271 ADAMTSL2 ADAMTS like 2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1343515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12117271 ADAMTSL2 ADAMTS like 2 gene DOID:2256 osteochondrodysplasia ISO RGD:1343515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 12117271 ADAMTSL2 ADAMTS like 2 gene DOID:3652 Leigh disease ISO RGD:1343515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12117271 ADAMTSL2 ADAMTS like 2 gene DOID:4079 heart valve disease ISO RGD:1343515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 12117271 ADAMTSL2 ADAMTS like 2 gene DOID:630 genetic disease ISO RGD:1343515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12117271 ADAMTSL2 ADAMTS like 2 gene DOID:655 inherited metabolic disorder ISO RGD:1343515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 12117271 ADAMTSL2 ADAMTS like 2 gene DOID:9001487 Facies ISO RGD:1343515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 12117271 ADAMTSL2 ADAMTS like 2 gene DOID:9003299 Short Limb Dwarfism Al Gazali Type ISO RGD:1343515 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Lethal short-limb skeletal dysplasia, Al Gazali type PMID:18677313|PMID:20301776|PMID:24251637|PMID:25741868|PMID:30195254 12117271 ADAMTSL2 ADAMTS like 2 gene DOID:9004585 GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES IAGP D RGD:12801476 20220629 OMIA Geleophysic dysplasia, ADMATSL2-related PMID:20862248|PMID:28158899 12117271 ADAMTSL2 ADAMTS like 2 gene DOID:9004795 Congenital Hand Deformities ISO RGD:1343515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 12117271 ADAMTSL2 ADAMTS like 2 gene DOID:9005369 Hepatomegaly ISO RGD:1343515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 12117271 ADAMTSL2 ADAMTS like 2 gene DOID:9006257 Growth Disorders ISO RGD:1343515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 12117271 ADAMTSL2 ADAMTS like 2 gene DOID:9006836 Contracture ISO RGD:1343515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 12117298 LRCH2 leucine rich repeats and calponin homology domain containing 2 gene DOID:0050753 cerebellar ataxia ISO RGD:1354195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:35351988 12117298 LRCH2 leucine rich repeats and calponin homology domain containing 2 gene DOID:0060165 Kleine-Levin syndrome ISO RGD:1354195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kleine-Levin syndrome 12117298 LRCH2 leucine rich repeats and calponin homology domain containing 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12117298 LRCH2 leucine rich repeats and calponin homology domain containing 2 gene DOID:11476 osteoporosis ISO RGD:1354195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 PMID:24088041|PMID:26633545 12117298 LRCH2 leucine rich repeats and calponin homology domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1354195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12117298 LRCH2 leucine rich repeats and calponin homology domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1354195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12117298 LRCH2 leucine rich repeats and calponin homology domain containing 2 gene DOID:630 genetic disease ISO RGD:1354195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117333 C21H11orf54 chromosome 21 C11orf54 homolog gene DOID:1059 intellectual disability ISO RGD:1603055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12117333 C21H11orf54 chromosome 21 C11orf54 homolog gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1309534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12117351 FAM174B family with sequence similarity 174 member B gene DOID:630 genetic disease ISO RGD:1606862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117362 TNFSF11 TNF superfamily member 11 gene DOID:0080011 bone resorption disease ISO RGD:1347343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26319416 12117362 TNFSF11 TNF superfamily member 11 gene DOID:0110943 autosomal recessive osteopetrosis 2 ISO RGD:1347343 D RGD:7240710 20180130 OMIM 12117362 TNFSF11 TNF superfamily member 11 gene DOID:0110943 autosomal recessive osteopetrosis 2 ISO RGD:1347343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 2 | ClinVar Annotator: match by term: Osteopetrosis osteoclast-poor PMID:17632511|PMID:20499338|PMID:21541994|PMID:23762088|PMID:25741868|PMID:28492532 12117362 TNFSF11 TNF superfamily member 11 gene DOID:11476 osteoporosis ISO RGD:1347343 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17882678 12117362 TNFSF11 TNF superfamily member 11 gene DOID:11476 osteoporosis ISO RGD:1347343 D RGD:9068941 20200609 RGD PMID:17002564|REF_RGD_ID:1625350 12117362 TNFSF11 TNF superfamily member 11 gene DOID:11476 osteoporosis ISO RGD:1551655 D RGD:9068941 20220825 MouseDO OMIM:166710 12117362 TNFSF11 TNF superfamily member 11 gene DOID:12678 hypercalcemia ISO RGD:1347343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15845617 12117362 TNFSF11 TNF superfamily member 11 gene DOID:12800 mucopolysaccharidosis VI treatment ISO RGD:620784 D RGD:9068941 20210514 RGD PMID:21887218|REF_RGD_ID:39131283 12117362 TNFSF11 TNF superfamily member 11 gene DOID:13533 osteopetrosis ISO RGD:1347343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteopetrosis 12117362 TNFSF11 TNF superfamily member 11 gene DOID:4254 osteosclerosis ISO RGD:1347343 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:20499338|PMID:21541994|PMID:25741868|PMID:28492532 12117362 TNFSF11 TNF superfamily member 11 gene DOID:5844 myocardial infarction ISO RGD:1347343 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18298349|REF_RGD_ID:2302363 12117362 TNFSF11 TNF superfamily member 11 gene DOID:630 genetic disease ISO RGD:1347343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12117362 TNFSF11 TNF superfamily member 11 gene DOID:820 myocarditis ISO RGD:620784 D RGD:9068941 20200609 RGD associated with Autoimmune Diseases;mRNA:increased expression:heart myocardium PMID:18417124|REF_RGD_ID:2302361 12117362 TNFSF11 TNF superfamily member 11 gene DOID:9000927 Alveolar Bone Loss ISO RGD:1347343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19249596 12117362 TNFSF11 TNF superfamily member 11 gene DOID:9001004 Chronic Periodontitis ISO RGD:1347343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20731768 12117362 TNFSF11 TNF superfamily member 11 gene DOID:9001547 Tibial Fractures ISO RGD:620784 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18592139|REF_RGD_ID:2302324 12117362 TNFSF11 TNF superfamily member 11 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1347343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16270354 12117362 TNFSF11 TNF superfamily member 11 gene DOID:9006081 Osteolysis ISO RGD:1347343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18606716 12117370 LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3 gene DOID:0050534 congenital stationary night blindness ISO RGD:1605227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive PMID:25741868|PMID:28492532 12117370 LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3 gene DOID:0050817 Stargardt disease ISO RGD:1605227 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:27428514|PMID:28492532 12117370 LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3 gene DOID:0110864 congenital stationary night blindness 1F ISO RGD:1605227 D RGD:7240710 20180130 OMIM 12117370 LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3 gene DOID:0110864 congenital stationary night blindness 1F ISO RGD:1605227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1F PMID:22673519|PMID:23246293|PMID:25741868|PMID:28492532 12117370 LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3 gene DOID:630 genetic disease ISO RGD:1605227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12117378 SPI1 Spi-1 proto-oncogene gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1344411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12117378 SPI1 Spi-1 proto-oncogene gene DOID:0081142 agammaglobulinemia 10 ISO RGD:1344411 D RGD:7240710 20220202 OMIM 12117378 SPI1 Spi-1 proto-oncogene gene DOID:0081142 agammaglobulinemia 10 ISO RGD:1344411 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO SPI1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 10, autosomal dominant PMID:25741868|PMID:33951726 12117378 SPI1 Spi-1 proto-oncogene gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1344411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 12117378 SPI1 Spi-1 proto-oncogene gene DOID:1059 intellectual disability ISO RGD:1344411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12117378 SPI1 Spi-1 proto-oncogene gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1344411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12117378 SPI1 Spi-1 proto-oncogene gene DOID:1574 alcohol use disorder ISO RGD:1359607 D RGD:9068941 20200609 RGD protein:decreased expression:alveolar macrophage PMID:16272341|REF_RGD_ID:9586723 12117378 SPI1 Spi-1 proto-oncogene gene DOID:1574 alcohol use disorder treatment ISO RGD:1359607 D RGD:9068941 20200609 RGD PMID:21447000|REF_RGD_ID:9586725 12117378 SPI1 Spi-1 proto-oncogene gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1344411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28671687 12117378 SPI1 Spi-1 proto-oncogene gene DOID:630 genetic disease ISO RGD:1344411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117378 SPI1 Spi-1 proto-oncogene gene DOID:8692 myeloid leukemia ISO RGD:1344411 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17361223 12117378 SPI1 Spi-1 proto-oncogene gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1359607 D RGD:9068941 20200609 RGD protein:increased expression:CA1 field of hippocampus PMID:10713349|REF_RGD_ID:9586724 12117378 SPI1 Spi-1 proto-oncogene gene DOID:9004283 Transplant Rejection treatment ISO RGD:1359607 D RGD:9068941 20200609 RGD PMID:24282365|REF_RGD_ID:9586451 12117378 SPI1 Spi-1 proto-oncogene gene DOID:9119 acute myeloid leukemia ISO RGD:1344411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26237430 12117378 SPI1 Spi-1 proto-oncogene gene DOID:9119 acute myeloid leukemia ISO RGD:1553307 D RGD:9068941 20220825 MouseDO OMIM:601626 12117391 KISS1R KISS1 receptor gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:731975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 12117391 KISS1R KISS1 receptor gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:731975 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 12117391 KISS1R KISS1 receptor gene DOID:0090074 hypogonadotropic hypogonadism 8 with or without anosmia ISO RGD:731975 D RGD:7240710 20180130 OMIM 12117391 KISS1R KISS1 receptor gene DOID:0090074 hypogonadotropic hypogonadism 8 with or without anosmia ISO RGD:731975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 without anosmia PMID:12788881|PMID:12944565|PMID:14573733|PMID:17164310|PMID:18772143|PMID:20371656|PMID:23349759|PMID:23643382|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31073722 12117391 KISS1R KISS1 receptor gene DOID:0112310 central precocious puberty 1 ISO RGD:731975 D RGD:7240710 20180130 OMIM 12117391 KISS1R KISS1 receptor gene DOID:0112310 central precocious puberty 1 ISO RGD:731975 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Precocious puberty, central, 1 PMID:17164310|PMID:18272894|PMID:23349759|PMID:25741868|PMID:26467025|PMID:28492532 12117391 KISS1R KISS1 receptor gene DOID:11383 cryptorchidism ISO RGD:731975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral cryptorchidism PMID:15598687|PMID:28492532|PMID:29452377 12117391 KISS1R KISS1 receptor gene DOID:1612 breast cancer severity ISO RGD:731975 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:high levels of both KISS1 and KISS1R in ERalpha+ tumors treated with tamoxifen associated with shorter relapse-free survival PMID:17914099|REF_RGD_ID:2292123 12117391 KISS1R KISS1 receptor gene DOID:1921 Klinefelter syndrome ISO RGD:731975 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 12117391 KISS1R KISS1 receptor gene DOID:1924 hypogonadism ISO RGD:731975 D RGD:9068941 20200609 RGD Hypogonadotropic hypogonadism, OMIM:146110 DNA:deletion:exon:155-bp deletion of the intron4/exon5 splice acceptor site and part of exon 5 PMID:12944565|REF_RGD_ID:1599279 12117391 KISS1R KISS1 receptor gene DOID:2671 transitional cell carcinoma severity ISO RGD:731975 D RGD:9068941 20200609 RGD urinary bladder TCC; mRNA:increased expression:tumor:versus normal bladder, with significantly higher expression in high-grade vs low-grade tumors (p=0.03) PMID:17164231|REF_RGD_ID:2292127 12117391 KISS1R KISS1 receptor gene DOID:3113 papillary carcinoma ISO RGD:731975 D RGD:9068941 20200609 RGD PMID:11994395|REF_RGD_ID:1599280 12117391 KISS1R KISS1 receptor gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:731975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 12117391 KISS1R KISS1 receptor gene DOID:5339 cyclic hematopoiesis ISO RGD:731975 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12117391 KISS1R KISS1 receptor gene DOID:630 genetic disease ISO RGD:731975 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12117391 KISS1R KISS1 receptor gene DOID:9000217 Stomach Neoplasms ISO RGD:731975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12117391 KISS1R KISS1 receptor gene DOID:9001239 Delayed Puberty ISO RGD:731975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21527035 12117391 KISS1R KISS1 receptor gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:731975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 12117391 KISS1R KISS1 receptor gene DOID:9007284 Precocious Puberty ISO RGD:731975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12117400 PRCD photoreceptor disc component gene DOID:0110405 retinitis pigmentosa 36 IAGP D RGD:12801476 20230308 OMIA Progressive rod-cone degeneration PMID:2309782|PMID:8603863|PMID:3164273|PMID:9501213|PMID:9589581|PMID:9634355|PMID:9716659|PMID:9820795|PMID:10235557|PMID:16938425|PMID:19737766|PMID:16859891|PMID:22065099|PMID:6215376|PMID:12620391|PMID:24581223|PMID:26120276|PMID:27509380|PMID:30650096|PMID:31640229|PMID:31628458|PMID:26549343|PMID:31884666|PMID:31189593|PMID:28855430|PMID:35588783|PMID:36325094|PMID:36427679|PMID:36848350 12117400 PRCD photoreceptor disc component gene DOID:0110405 retinitis pigmentosa 36 ISO RGD:1603415 D RGD:7240710 20180130 OMIM 12117400 PRCD photoreceptor disc component gene DOID:0110405 retinitis pigmentosa 36 ISO RGD:1603415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 36 PMID:16938425|PMID:20507925|PMID:23661369|PMID:23805042|PMID:24992209|PMID:25741868|PMID:28181551|PMID:28492532|PMID:29785639 12117400 PRCD photoreceptor disc component gene DOID:10584 retinitis pigmentosa ISO RGD:1603415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16938425|PMID:17576681|PMID:20507925|PMID:23661369|PMID:23805042|PMID:25741868|PMID:26806561|PMID:28181551|PMID:28492532|PMID:29785639|PMID:9536098 12117400 PRCD photoreceptor disc component gene DOID:630 genetic disease ISO RGD:1603415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12117400 PRCD photoreceptor disc component gene DOID:8501 fundus dystrophy ISO RGD:1603415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16938425|PMID:20507925|PMID:23805042|PMID:25741868|PMID:28181551|PMID:28492532 12117408 C8H14orf39 chromosome 8 C14orf39 homolog gene DOID:0060252 sclerocornea ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sclerocornea 12117408 C8H14orf39 chromosome 8 C14orf39 homolog gene DOID:0070168 spermatogenic failure 3 ISO RGD:1350418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:33508233 12117408 C8H14orf39 chromosome 8 C14orf39 homolog gene DOID:0080635 optic disc anomalies with retinal and/or macular dystrophy ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY PMID:15266624|PMID:23167593|PMID:24702266|PMID:25741868|PMID:28492532 12117408 C8H14orf39 chromosome 8 C14orf39 homolog gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia PMID:25741868|PMID:28492532 12117408 C8H14orf39 chromosome 8 C14orf39 homolog gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:24875647|PMID:25741868|PMID:28492532 12117408 C8H14orf39 chromosome 8 C14orf39 homolog gene DOID:0112269 primary ovarian insufficiency 18 ISO RGD:1350418 D RGD:7240710 20210303 OMIM 12117408 C8H14orf39 chromosome 8 C14orf39 homolog gene DOID:0112269 primary ovarian insufficiency 18 ISO RGD:1350418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 18 PMID:33508233 12117408 C8H14orf39 chromosome 8 C14orf39 homolog gene DOID:0112270 spermatogenic failure 52 ISO RGD:1350418 D RGD:7240710 20210303 OMIM 12117408 C8H14orf39 chromosome 8 C14orf39 homolog gene DOID:0112270 spermatogenic failure 52 ISO RGD:1350418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 52 PMID:33508233 12117408 C8H14orf39 chromosome 8 C14orf39 homolog gene DOID:10629 microphthalmia ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar Annotator: match by term: Microphthalmos PMID:25741868|PMID:28492532 12117408 C8H14orf39 chromosome 8 C14orf39 homolog gene DOID:14227 azoospermia ISO RGD:1350418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia PMID:33508233 12117408 C8H14orf39 chromosome 8 C14orf39 homolog gene DOID:630 genetic disease ISO RGD:1350418 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12117408 C8H14orf39 chromosome 8 C14orf39 homolog gene DOID:83 cataract ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cataract 12117408 C8H14orf39 chromosome 8 C14orf39 homolog gene DOID:9007101 Isolated Microphthalmia with Cataract 2 ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus PMID:15266624|PMID:23167593|PMID:24702266|PMID:25741868|PMID:28492532 12117408 C8H14orf39 chromosome 8 C14orf39 homolog gene DOID:9650 pathologic nystagmus ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nystagmus 12117438 TNFRSF17 TNF receptor superfamily member 17 gene DOID:0080600 COVID-19 ISO RGD:1312303 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12117438 TNFRSF17 TNF receptor superfamily member 17 gene DOID:1520 colon carcinoma ISO RGD:1312303 D RGD:9068941 20200609 RGD PMID:11104810|REF_RGD_ID:2317311 12117438 TNFRSF17 TNF receptor superfamily member 17 gene DOID:5419 schizophrenia ISO RGD:1312303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12117438 TNFRSF17 TNF receptor superfamily member 17 gene DOID:630 genetic disease ISO RGD:1312303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117438 TNFRSF17 TNF receptor superfamily member 17 gene DOID:6785 desmoplastic small round cell tumor ISO RGD:1312303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmoplastic small round cell tumor PMID:26822237 12117438 TNFRSF17 TNF receptor superfamily member 17 gene DOID:9538 multiple myeloma ISO RGD:1312303 D RGD:9068941 20200609 RGD PMID:15692072|REF_RGD_ID:2317306 12117446 LUZP4 leucine zipper protein 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12117446 LUZP4 leucine zipper protein 4 gene DOID:11476 osteoporosis ISO RGD:1352485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 PMID:24088041|PMID:26633545 12117446 LUZP4 leucine zipper protein 4 gene DOID:12849 autistic disorder ISO RGD:1352485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12117446 LUZP4 leucine zipper protein 4 gene DOID:630 genetic disease ISO RGD:1352485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117454 CEBPG CCAAT enhancer binding protein gamma gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:735927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12117454 CEBPG CCAAT enhancer binding protein gamma gene DOID:630 genetic disease ISO RGD:735927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117460 PXDN peroxidasin gene DOID:0060648 anterior segment dysgenesis ISO RGD:1607083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES PMID:26694549|PMID:28492532|PMID:32499604 12117460 PXDN peroxidasin gene DOID:0080612 anterior segment dysgenesis 7 ISO RGD:1607083 D RGD:7240710 20180130 OMIM 12117460 PXDN peroxidasin gene DOID:0080612 anterior segment dysgenesis 7 ISO RGD:1607083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 7 | ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES PMID:17576681|PMID:21474777|PMID:21907015|PMID:24939590|PMID:25741868|PMID:26694549|PMID:28492532|PMID:9536098 12117460 PXDN peroxidasin gene DOID:630 genetic disease ISO RGD:1607083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12117460 PXDN peroxidasin gene DOID:83 cataract ISO RGD:1607083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:26694549|PMID:28492532 12117460 PXDN peroxidasin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1607083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12117460 PXDN peroxidasin gene DOID:9119 acute myeloid leukemia ISO RGD:1607083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12117488 OR8D4 olfactory receptor family 8 subfamily D member 4 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1319573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12117488 OR8D4 olfactory receptor family 8 subfamily D member 4 gene DOID:5419 schizophrenia ISO RGD:1319573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12117488 OR8D4 olfactory receptor family 8 subfamily D member 4 gene DOID:630 genetic disease ISO RGD:1319573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117488 OR8D4 olfactory receptor family 8 subfamily D member 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1319573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12117488 OR8D4 olfactory receptor family 8 subfamily D member 4 gene DOID:9007661 Dwarfism ISO RGD:1319573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12117499 GPS2 G protein pathway suppressor 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1317604 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12117499 GPS2 G protein pathway suppressor 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1317604 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12117499 GPS2 G protein pathway suppressor 2 gene DOID:1059 intellectual disability ISO RGD:1317604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12117499 GPS2 G protein pathway suppressor 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1317604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12117499 GPS2 G protein pathway suppressor 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1317604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12117499 GPS2 G protein pathway suppressor 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1317604 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12117499 GPS2 G protein pathway suppressor 2 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1317604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12117499 GPS2 G protein pathway suppressor 2 gene DOID:630 genetic disease ISO RGD:1317604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117516 SIGLEC15 sialic acid binding Ig like lectin 15 gene DOID:0060356 Vici syndrome ISO RGD:1604713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 12117516 SIGLEC15 sialic acid binding Ig like lectin 15 gene DOID:1059 intellectual disability ISO RGD:1604713 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12117516 SIGLEC15 sialic acid binding Ig like lectin 15 gene DOID:630 genetic disease ISO RGD:1604713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117516 SIGLEC15 sialic acid binding Ig like lectin 15 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1604713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 12117539 SYCE1L synaptonemal complex central element protein 1 like gene DOID:0070168 spermatogenic failure 3 ISO RGD:2902459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:28492532|PMID:31479588 12117539 SYCE1L synaptonemal complex central element protein 1 like gene DOID:630 genetic disease ISO RGD:2902459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117561 SCAF8 SR-related CTD associated factor 8 gene DOID:0060041 autism spectrum disorder ISO RGD:1342919 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12117561 SCAF8 SR-related CTD associated factor 8 gene DOID:630 genetic disease ISO RGD:1342919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117646 TPR translocated promoter region, nuclear basket protein gene DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome ISO RGD:1321699 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome PMID:25741868|PMID:29397575 12117646 TPR translocated promoter region, nuclear basket protein gene DOID:1059 intellectual disability ISO RGD:1321699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12117646 TPR translocated promoter region, nuclear basket protein gene DOID:1540 parathyroid carcinoma ISO RGD:1321699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12117646 TPR translocated promoter region, nuclear basket protein gene DOID:630 genetic disease ISO RGD:1321699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117646 TPR translocated promoter region, nuclear basket protein gene DOID:9004547 Thyroid Neoplasms ISO RGD:1321699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23811263 12117646 TPR translocated promoter region, nuclear basket protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12117701 KLK4 kallikrein related peptidase 4 gene DOID:0110057 amelogenesis imperfecta type 2A1 ISO RGD:1353266 D RGD:7240710 20180130 OMIM 12117701 KLK4 kallikrein related peptidase 4 gene DOID:0110057 amelogenesis imperfecta type 2A1 ISO RGD:1353266 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1 PMID:15235027|PMID:204700|PMID:21597265|PMID:23355523|PMID:25741868|PMID:28611678 12117701 KLK4 kallikrein related peptidase 4 gene DOID:10283 prostate cancer ISO RGD:1353266 D RGD:9068941 20200609 RGD PMID:12370833|REF_RGD_ID:2314857 12117701 KLK4 kallikrein related peptidase 4 gene DOID:10283 prostate cancer ISO RGD:1353266 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:17545602|REF_RGD_ID:2314854 12117701 KLK4 kallikrein related peptidase 4 gene DOID:12336 male infertility ISO RGD:1353266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 12117701 KLK4 kallikrein related peptidase 4 gene DOID:1612 breast cancer disease_progression ISO RGD:1353266 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:breast PMID:18687310|REF_RGD_ID:2314853 12117701 KLK4 kallikrein related peptidase 4 gene DOID:1612 breast cancer severity ISO RGD:1353266 D RGD:9068941 20200609 RGD PMID:19190825|REF_RGD_ID:2314852 12117701 KLK4 kallikrein related peptidase 4 gene DOID:2187 amelogenesis imperfecta ISO RGD:1353266 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta 12117701 KLK4 kallikrein related peptidase 4 gene DOID:2394 ovarian cancer severity ISO RGD:1353266 D RGD:9068941 20200609 RGD PMID:15262123|REF_RGD_ID:2314856 12117701 KLK4 kallikrein related peptidase 4 gene DOID:630 genetic disease ISO RGD:1353266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117716 OR2T22 olfactory receptor family 2 subfamily T member 22 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1343251 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12117716 OR2T22 olfactory receptor family 2 subfamily T member 22 gene DOID:1540 parathyroid carcinoma ISO RGD:1343251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12117716 OR2T22 olfactory receptor family 2 subfamily T member 22 gene DOID:630 genetic disease ISO RGD:1343251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117716 OR2T22 olfactory receptor family 2 subfamily T member 22 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12117716 OR2T22 olfactory receptor family 2 subfamily T member 22 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12117728 SPX spexin hormone gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:1606773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532 12117728 SPX spexin hormone gene DOID:630 genetic disease ISO RGD:1606773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117748 TMEM245 transmembrane protein 245 gene DOID:0080435 developmental and epileptic encephalopathy 37 ISO RGD:1319034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 PMID:28492532 12117748 TMEM245 transmembrane protein 245 gene DOID:630 genetic disease ISO RGD:1319034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117771 RP1 RP1 axonemal microtubule associated gene DOID:0110390 retinitis pigmentosa 1 ISO RGD:1318061 D RGD:7240710 20180130 OMIM 12117771 RP1 RP1 axonemal microtubule associated gene DOID:0110390 retinitis pigmentosa 1 ISO RGD:1318061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RP1-related retinal dystrophy | ClinVar Annotator: match by term: Retinitis pigmentosa 1 PMID:10391211|PMID:10391212|PMID:10401003|PMID:10465120|PMID:10845615|PMID:11095597|PMID:11317367|PMID:11527933|PMID:11694261|PMID:11960024|PMID:12764676|PMID:15183808|PMID:15863674|PMID:15994872|PMID:17576681|PMID:1783394|PMID:19933189|PMID:20664799|PMID:21147909|PMID:22317909|PMID:22917891|PMID:23077400|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24339724|PMID:25097241|PMID:25741868|PMID:26355662|PMID:26766544|PMID:27391102|PMID:27623337|PMID:28041643|PMID:28418496|PMID:28492532|PMID:29425069|PMID:29641573|PMID:29785639|PMID:29847639|PMID:30027431|PMID:30029497|PMID:30054919|PMID:30337596|PMID:30718709|PMID:30902645|PMID:30913292|PMID:31253780|PMID:31630094|PMID:32005865|PMID:32100970|PMID:32565670|PMID:32587456|PMID:33090715|PMID:33546218|PMID:33576794|PMID:33681214|PMID:33691693|PMID:33946315|PMID:8931712|PMID:9536098 12117771 RP1 RP1 axonemal microtubule associated gene DOID:10584 retinitis pigmentosa ISO RGD:1318061 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10484783|PMID:10845615|PMID:11095597|PMID:11317367|PMID:11527933|PMID:11694261|PMID:12764676|PMID:15183808|PMID:15863674|PMID:15994872|PMID:16597330|PMID:17576681|PMID:19933189|PMID:19956407|PMID:20664799|PMID:21147909|PMID:22052604|PMID:22317909|PMID:22334370|PMID:22917891|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24339724|PMID:25088982|PMID:25097241|PMID:25472526|PMID:25494902|PMID:25692139|PMID:25741868|PMID:26306921|PMID:26355662|PMID:26497376|PMID:27391102|PMID:27623337|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29425069|PMID:29785639|PMID:29912909|PMID:30027431|PMID:30054919|PMID:30337596|PMID:30718709|PMID:30913292|PMID:31253780|PMID:31456290|PMID:31833436|PMID:32005865|PMID:33546218|PMID:9536098 12117771 RP1 RP1 axonemal microtubule associated gene DOID:10584 retinitis pigmentosa ISO RGD:1318061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10484783|PMID:10845615|PMID:11095597|PMID:11139241|PMID:11317367|PMID:11527933|PMID:11694261|PMID:12764676|PMID:15183808|PMID:15863674|PMID:15994872|PMID:16597330|PMID:17576681|PMID:19933189|PMID:19956407|PMID:20664799|PMID:21147909|PMID:22052604|PMID:22317909|PMID:22334370|PMID:22917891|PMID:23077400|PMID:23105016|PMID:23950152|PMID:24033266|PMID:24265693|PMID:24339724|PMID:25088982|PMID:25097241|PMID:25472526|PMID:25494902|PMID:25692139|PMID:25741868|PMID:26306921|PMID:26355662|PMID:26497376|PMID:27391102|PMID:27623337|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:29425069|PMID:29785639|PMID:29912909|PMID:30027431|PMID:30054919|PMID:30337596|PMID:30718709|PMID:30731082|PMID:30902645|PMID:30913292|PMID:31079053|PMID:31253780|PMID:31456290|PMID:31833436|PMID:32005865|PMID:32037395|PMID:32565670|PMID:32581362|PMID:32783370|PMID:33546218|PMID:33576794|PMID:33681214|PMID:9536098 12117771 RP1 RP1 axonemal microtubule associated gene DOID:3007 breast ductal carcinoma ISO RGD:1318061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12117771 RP1 RP1 axonemal microtubule associated gene DOID:630 genetic disease ISO RGD:1318061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11527933|PMID:11960024|PMID:19933189|PMID:25883087|PMID:27160483|PMID:27208204|PMID:28492532|PMID:29425069|PMID:30027431|PMID:30731082 12117771 RP1 RP1 axonemal microtubule associated gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1318061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber optic atrophy PMID:28492532 12117771 RP1 RP1 axonemal microtubule associated gene DOID:8501 fundus dystrophy ISO RGD:1318061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10391211|PMID:10391212|PMID:10401003|PMID:11095597|PMID:11139241|PMID:11527933|PMID:1783394|PMID:19933189|PMID:22334370|PMID:23991373|PMID:24339724|PMID:25494902|PMID:25692139|PMID:25698705|PMID:25741868|PMID:26355662|PMID:27160483|PMID:27208204|PMID:27391102|PMID:28041643|PMID:28076437|PMID:28492532|PMID:29068140|PMID:29425069|PMID:29847639|PMID:30027431|PMID:30718709|PMID:30731082|PMID:30913292|PMID:31054281|PMID:31456290|PMID:32565670|PMID:32783370|PMID:33546218|PMID:33681214|PMID:8931712 12117771 RP1 RP1 axonemal microtubule associated gene DOID:9000343 Vision Disorders ISO RGD:1318061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:18791550|PMID:25741868|PMID:28492532 12117771 RP1 RP1 axonemal microtubule associated gene DOID:9000810 HYPERTRIGLYCERIDEMIA 1 ISO RGD:1318061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia, familial PMID:12764676|PMID:20664799|PMID:25741868|PMID:28492532 12117782 MMADHC metabolism of cobalamin associated D gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1346733 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:18385497|PMID:22156578|PMID:25155779|PMID:25741868|PMID:28492532|PMID:32252256 12117782 MMADHC metabolism of cobalamin associated D gene DOID:0050716 methylmalonic aciduria and homocystinuria type cblD ISO RGD:1346733 D RGD:7240710 20180130 OMIM 12117782 MMADHC metabolism of cobalamin associated D gene DOID:0050716 methylmalonic aciduria and homocystinuria type cblD ISO RGD:1346733 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Homocystinuria, cblD type, variant 1 | ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria cblD | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria, cblD type, variant 2 PMID:15292234|PMID:16199547|PMID:17576681|PMID:18385497|PMID:19058814|PMID:22156578|PMID:24033266|PMID:25155779|PMID:25741868|PMID:27252276|PMID:28492532|PMID:28939051|PMID:29620684|PMID:32252256|PMID:5524089|PMID:9536098 12117782 MMADHC metabolism of cobalamin associated D gene DOID:630 genetic disease ISO RGD:1346733 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12117782 MMADHC metabolism of cobalamin associated D gene DOID:655 inherited metabolic disorder ISO RGD:1346733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:24033266|PMID:25741868|PMID:28492532 12117793 ELP3 elongator acetyltransferase complex subunit 3 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1316051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12117793 ELP3 elongator acetyltransferase complex subunit 3 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1316051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12117793 ELP3 elongator acetyltransferase complex subunit 3 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1316051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12117793 ELP3 elongator acetyltransferase complex subunit 3 gene DOID:630 genetic disease ISO RGD:1316051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117793 ELP3 elongator acetyltransferase complex subunit 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1316051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 12117793 ELP3 elongator acetyltransferase complex subunit 3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 12117793 ELP3 elongator acetyltransferase complex subunit 3 gene DOID:9006205 Animal Disease Models ISO RGD:1316051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 12117793 ELP3 elongator acetyltransferase complex subunit 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1316051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 12117812 UMPS uridine monophosphate synthetase gene DOID:0050833 orotic aciduria ISO RGD:1323612 D RGD:7240710 20180130 OMIM 12117812 UMPS uridine monophosphate synthetase gene DOID:0050833 orotic aciduria ISO RGD:1323612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary orotic aciduria, type 1 | ClinVar Annotator: match by term: Orotic aciduria PMID:16199547|PMID:25741868|PMID:25757096|PMID:28205048|PMID:28263315|PMID:28492532|PMID:9042911 12117812 UMPS uridine monophosphate synthetase gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1323612 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12117812 UMPS uridine monophosphate synthetase gene DOID:0080916 erythroleukemia ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 12117812 UMPS uridine monophosphate synthetase gene DOID:10923 sickle cell anemia ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 12117812 UMPS uridine monophosphate synthetase gene DOID:12241 beta thalassemia ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 12117812 UMPS uridine monophosphate synthetase gene DOID:12971 hereditary spherocytosis ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 12117812 UMPS uridine monophosphate synthetase gene DOID:1342 congenital hypoplastic anemia ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 12117812 UMPS uridine monophosphate synthetase gene DOID:1749 squamous cell carcinoma ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16757204 12117812 UMPS uridine monophosphate synthetase gene DOID:630 genetic disease ISO RGD:1323612 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12117812 UMPS uridine monophosphate synthetase gene DOID:653 purine-pyrimidine metabolic disorder ISO RGD:1323612 D RGD:9068941 20200609 RGD orotic aciduria PMID:9042911|REF_RGD_ID:1599702 12117812 UMPS uridine monophosphate synthetase gene DOID:684 hepatocellular carcinoma ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18230555 12117812 UMPS uridine monophosphate synthetase gene DOID:9000217 Stomach Neoplasms ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16912530|PMID:17089033|PMID:18652704 12117812 UMPS uridine monophosphate synthetase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15999119|PMID:19082440 12117812 UMPS uridine monophosphate synthetase gene DOID:9002928 Colonic Neoplasms ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18652704 12117812 UMPS uridine monophosphate synthetase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1311908 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:3907307|REF_RGD_ID:5132278 12117812 UMPS uridine monophosphate synthetase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1311908 D RGD:9068941 20200609 RGD protein:decreased activity:mammary gland (rat) PMID:1476792|REF_RGD_ID:5132591 12117812 UMPS uridine monophosphate synthetase gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1323612 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 12117812 UMPS uridine monophosphate synthetase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1323612 D RGD:9068941 20220616 RGD DNA:SNP:cds:rs2279199|rs4678145 (human) PMID:28347776|REF_RGD_ID:152995291 12117812 UMPS uridine monophosphate synthetase gene DOID:9007364 Mouth Neoplasms ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16757204 12117812 UMPS uridine monophosphate synthetase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814641|PMID:19020767 12117812 UMPS uridine monophosphate synthetase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1323612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12117812 UMPS uridine monophosphate synthetase gene DOID:9008939 Breast Neoplasms ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19020767|PMID:19151563 12117812 UMPS uridine monophosphate synthetase gene DOID:9270 alkaptonuria ISO RGD:1323612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12117822 FAM193B family with sequence similarity 193 member B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1601757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12117822 FAM193B family with sequence similarity 193 member B gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1601757 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12117822 FAM193B family with sequence similarity 193 member B gene DOID:0112103 Sotos syndrome 1 ISO RGD:1601757 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 12117822 FAM193B family with sequence similarity 193 member B gene DOID:630 genetic disease ISO RGD:1601757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117822 FAM193B family with sequence similarity 193 member B gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1601757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12117856 SAMD13 sterile alpha motif domain containing 13 gene DOID:630 genetic disease ISO RGD:1606448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117901 ETV3 ETS variant transcription factor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1348851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12117901 ETV3 ETS variant transcription factor 3 gene DOID:630 genetic disease ISO RGD:1348851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117901 ETV3 ETS variant transcription factor 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12117901 ETV3 ETS variant transcription factor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12117912 WIF1 WNT inhibitory factor 1 gene DOID:0050685 small cell carcinoma ISO RGD:731989 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:14517837|REF_RGD_ID:727214 12117912 WIF1 WNT inhibitory factor 1 gene DOID:10283 prostate cancer ISO RGD:731989 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:prostate gland PMID:14517837|REF_RGD_ID:727214 12117912 WIF1 WNT inhibitory factor 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731989 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:18325051|REF_RGD_ID:2291868 12117912 WIF1 WNT inhibitory factor 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731989 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:14517837|REF_RGD_ID:727214 12117912 WIF1 WNT inhibitory factor 1 gene DOID:1612 breast cancer ISO RGD:731989 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:16501252|REF_RGD_ID:2291871 12117912 WIF1 WNT inhibitory factor 1 gene DOID:2154 nephroblastoma ISO RGD:731989 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:16575872|REF_RGD_ID:2291870 12117912 WIF1 WNT inhibitory factor 1 gene DOID:2999 granulosa cell tumor ISO RGD:1552191 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:16488995|REF_RGD_ID:1643593 12117912 WIF1 WNT inhibitory factor 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:731989 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:14517837|REF_RGD_ID:727214 12117912 WIF1 WNT inhibitory factor 1 gene DOID:4450 renal cell carcinoma ISO RGD:731989 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17145819|REF_RGD_ID:2291869 12117912 WIF1 WNT inhibitory factor 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:731989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12117912 WIF1 WNT inhibitory factor 1 gene DOID:630 genetic disease ISO RGD:731989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117912 WIF1 WNT inhibitory factor 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:731989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17384664 12117912 WIF1 WNT inhibitory factor 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:731989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12117912 WIF1 WNT inhibitory factor 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:731989 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:16436637|REF_RGD_ID:2298535 12117912 WIF1 WNT inhibitory factor 1 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:731989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17384664 12117912 WIF1 WNT inhibitory factor 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923031 12117926 PNPLA5 patatin like phospholipase domain containing 5 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1343707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12117926 PNPLA5 patatin like phospholipase domain containing 5 gene DOID:1059 intellectual disability ISO RGD:1343707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12117926 PNPLA5 patatin like phospholipase domain containing 5 gene DOID:630 genetic disease ISO RGD:1343707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117944 LOC482553 olfactory receptor 11H4 gene DOID:630 genetic disease ISO RGD:1345740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117945 PTPN12 protein tyrosine phosphatase non-receptor type 12 gene DOID:1520 colon carcinoma ISO RGD:1346224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:7509295 12117945 PTPN12 protein tyrosine phosphatase non-receptor type 12 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12117945 PTPN12 protein tyrosine phosphatase non-receptor type 12 gene DOID:630 genetic disease ISO RGD:1346224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117945 PTPN12 protein tyrosine phosphatase non-receptor type 12 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1346224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12117945 PTPN12 protein tyrosine phosphatase non-receptor type 12 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1346224 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 12117945 PTPN12 protein tyrosine phosphatase non-receptor type 12 gene DOID:9256 colorectal cancer ISO RGD:1346224 D RGD:7240710 20200226 OMIM 12117977 OR9Q4 olfactory receptor family 9 subfamily Q member 4 gene DOID:1059 intellectual disability ISO RGD:1349735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12117977 OR9Q4 olfactory receptor family 9 subfamily Q member 4 gene DOID:630 genetic disease ISO RGD:1349735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12117981 CLPTM1 CLPTM1 regulator of GABA type A receptor forward trafficking gene DOID:1793 pancreatic cancer ISO RGD:1322154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098869 12117981 CLPTM1 CLPTM1 regulator of GABA type A receptor forward trafficking gene DOID:630 genetic disease ISO RGD:1322154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118017 SATB1 SATB homeobox 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1313660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12118017 SATB1 SATB homeobox 1 gene DOID:0060417 3p deletion syndrome ISO RGD:1313660 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12118017 SATB1 SATB homeobox 1 gene DOID:12894 Sjogren's syndrome ISO RGD:1313661 D RGD:9068941 20220825 MouseDO OMIM:270150 12118017 SATB1 SATB homeobox 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1313660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12118017 SATB1 SATB homeobox 1 gene DOID:630 genetic disease ISO RGD:1313660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16371359|PMID:17652321|PMID:27462121|PMID:33513338 12118017 SATB1 SATB homeobox 1 gene DOID:9000289 DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES ISO RGD:1313660 D RGD:7240710 20210414 OMIM 12118017 SATB1 SATB homeobox 1 gene DOID:9000289 DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES ISO RGD:1313660 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental delay with dysmorphic facies and dental anomalies PMID:25741868|PMID:28492532|PMID:33513338|PMID:34782754 12118017 SATB1 SATB homeobox 1 gene DOID:9003563 KOHLSCHUTTER-TONZ SYNDROME-LIKE ISO RGD:1313660 D RGD:7240710 20210414 OMIM 12118017 SATB1 SATB homeobox 1 gene DOID:9003563 KOHLSCHUTTER-TONZ SYNDROME-LIKE ISO RGD:1313660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kohlschutter-Tonz syndrome-like PMID:15930900|PMID:16371359|PMID:17652321|PMID:25741868|PMID:27462121|PMID:28492532|PMID:33513338|PMID:34782754 12118017 SATB1 SATB homeobox 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12118017 SATB1 SATB homeobox 1 gene DOID:9006205 Animal Disease Models ISO RGD:1313660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12118017 SATB1 SATB homeobox 1 gene DOID:9006303 Familial Hyperaldosteronism, Type II ISO RGD:1313660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hyperaldosteronism type II PMID:29403011 12118033 SLC4A11 solute carrier family 4 member 11 gene DOID:0060649 congenital hereditary endothelial dystrophy of cornea ISO RGD:1320941 D RGD:7240710 20180130 OMIM 12118033 SLC4A11 solute carrier family 4 member 11 gene DOID:0060649 congenital hereditary endothelial dystrophy of cornea ISO RGD:1320941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hereditary endothelial dystrophy of cornea PMID:16767101|PMID:16825429|PMID:17220209|PMID:17397048|PMID:17576681|PMID:17679935|PMID:18024964|PMID:18474783|PMID:22072594|PMID:23615275|PMID:23922488|PMID:24033266|PMID:24916015|PMID:25741868|PMID:25741869|PMID:26619383|PMID:28492532|PMID:29327391|PMID:31323090|PMID:31691803|PMID:31714402|PMID:33541055|PMID:34637099|PMID:9536098 12118033 SLC4A11 solute carrier family 4 member 11 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1320941 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12118033 SLC4A11 solute carrier family 4 member 11 gene DOID:0110855 posterior polymorphous corneal dystrophy 1 ISO RGD:1320941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1 PMID:25182519|PMID:28492532 12118033 SLC4A11 solute carrier family 4 member 11 gene DOID:0111620 corneal dystrophy-perceptive deafness syndrome ISO RGD:1320941 D RGD:7240710 20180130 OMIM 12118033 SLC4A11 solute carrier family 4 member 11 gene DOID:0111620 corneal dystrophy-perceptive deafness syndrome ISO RGD:1320941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Corneal dystrophy-perceptive deafness syndrome PMID:16199547|PMID:16767101|PMID:16825429|PMID:17220209|PMID:17397048|PMID:17679935|PMID:18024964|PMID:18363173|PMID:18474783|PMID:19337156|PMID:19369245|PMID:20144242|PMID:21203343|PMID:22072594|PMID:23615275|PMID:23922488|PMID:24033266|PMID:24348007|PMID:24916015|PMID:25182519|PMID:25500497|PMID:25741868|PMID:26467025|PMID:27057589|PMID:28263186|PMID:28492532|PMID:28973083|PMID:29327391|PMID:31323090|PMID:31420327|PMID:31691803|PMID:31714402|PMID:33816482 12118033 SLC4A11 solute carrier family 4 member 11 gene DOID:2566 corneal dystrophy ISO RGD:1320941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal Dystrophy, Recessive | ClinVar Annotator: match by term: Corneal dystrophy PMID:18024964|PMID:18363173|PMID:20144242|PMID:20848555|PMID:23585771|PMID:23922488|PMID:24348007|PMID:25182519|PMID:25741868|PMID:26467025|PMID:28263186|PMID:28492532|PMID:28973083|PMID:29327391|PMID:31263352|PMID:33816482|PMID:34130750 12118033 SLC4A11 solute carrier family 4 member 11 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1320941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12118033 SLC4A11 solute carrier family 4 member 11 gene DOID:630 genetic disease ISO RGD:1320941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 12118033 SLC4A11 solute carrier family 4 member 11 gene DOID:9004127 Corneal Dystrophy, Fuchs Endothelial, 4 ISO RGD:1320941 D RGD:7240710 20180130 OMIM 12118033 SLC4A11 solute carrier family 4 member 11 gene DOID:9004127 Corneal Dystrophy, Fuchs Endothelial, 4 ISO RGD:1320941 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 4 PMID:16767101|PMID:18024964|PMID:22072594|PMID:25741868|PMID:29327391 12118033 SLC4A11 solute carrier family 4 member 11 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1320941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 12118070 PDYN prodynorphin gene DOID:0050155 sensory system disease ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19200067 12118070 PDYN prodynorphin gene DOID:0050973 spinocerebellar ataxia type 23 ISO RGD:1343954 D RGD:7240710 20180130 OMIM 12118070 PDYN prodynorphin gene DOID:0050973 spinocerebellar ataxia type 23 ISO RGD:1343954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 23 PMID:21035104|PMID:22243190|PMID:22287014|PMID:23108490|PMID:23355175|PMID:23471613|PMID:25741868|PMID:26467025|PMID:27528516|PMID:28492532 12118070 PDYN prodynorphin gene DOID:0080855 Parkinsonism ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9930741 12118070 PDYN prodynorphin gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1343954 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12118070 PDYN prodynorphin gene DOID:10914 amnestic disorder ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7768285 12118070 PDYN prodynorphin gene DOID:11162 respiratory failure ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:6662192 12118070 PDYN prodynorphin gene DOID:13580 cholestasis ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16919318 12118070 PDYN prodynorphin gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1343954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia 12118070 PDYN prodynorphin gene DOID:1574 alcohol use disorder ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17559549|PMID:18923396 12118070 PDYN prodynorphin gene DOID:3328 temporal lobe epilepsy ISO RGD:1343954 D RGD:9068941 20200609 RGD DNA:repeats:promoter: (human) PMID:11835385|REF_RGD_ID:1358556 12118070 PDYN prodynorphin gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1343954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12118070 PDYN prodynorphin gene DOID:480 movement disease ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20298714 12118070 PDYN prodynorphin gene DOID:630 genetic disease ISO RGD:1343954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 12118070 PDYN prodynorphin gene DOID:670 amphetamine abuse ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16529859 12118070 PDYN prodynorphin gene DOID:9000641 Pain ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17670969|PMID:20068450 12118070 PDYN prodynorphin gene DOID:9001443 Hypercapnia ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11311734 12118070 PDYN prodynorphin gene DOID:9002211 Hyperalgesia ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17670969 12118070 PDYN prodynorphin gene DOID:9002669 Hypoxia ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11311734 12118070 PDYN prodynorphin gene DOID:9004659 Respiration Disorders ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6131355 12118070 PDYN prodynorphin gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16184603|PMID:17559549|PMID:18575850|PMID:18923396 12118070 PDYN prodynorphin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62054 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve, peroneal nerve, tibial nerve, footpad skin: PMID:16924480|REF_RGD_ID:9834947 12118070 PDYN prodynorphin gene DOID:9006024 Hypotension ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1676337|PMID:2536002|PMID:2566129|PMID:6131355 12118070 PDYN prodynorphin gene DOID:9006202 Pruritus ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29669290 12118070 PDYN prodynorphin gene DOID:9007001 Bradycardia ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1676337|PMID:6131355|PMID:6716269 12118070 PDYN prodynorphin gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21737418|PMID:9767399 12118070 PDYN prodynorphin gene DOID:9008675 Dyskinesias ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21984936 12118088 AMFR autocrine motility factor receptor gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1323068 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12118088 AMFR autocrine motility factor receptor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1323068 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12118088 AMFR autocrine motility factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:1323068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22313999 12118088 AMFR autocrine motility factor receptor gene DOID:11054 urinary bladder cancer ISO RGD:1323068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9241080 12118088 AMFR autocrine motility factor receptor gene DOID:13938 amenorrhea ISO RGD:1323068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12118088 AMFR autocrine motility factor receptor gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12118088 AMFR autocrine motility factor receptor gene DOID:3007 breast ductal carcinoma ISO RGD:1323068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12118088 AMFR autocrine motility factor receptor gene DOID:630 genetic disease ISO RGD:1323068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118088 AMFR autocrine motility factor receptor gene DOID:9000918 Disease Progression ISO RGD:1323068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9241080 12118088 AMFR autocrine motility factor receptor gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1323068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12118109 NDST4 N-deacetylase and N-sulfotransferase 4 gene DOID:630 genetic disease ISO RGD:1315201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118109 NDST4 N-deacetylase and N-sulfotransferase 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 12118132 TFAM transcription factor A, mitochondrial gene DOID:0080337 mitochondrial DNA depletion syndrome 15 ISO RGD:1605718 D RGD:7240710 20190315 OMIM 12118132 TFAM transcription factor A, mitochondrial gene DOID:0080337 mitochondrial DNA depletion syndrome 15 ISO RGD:1605718 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) PMID:25741868|PMID:27448789|PMID:28492532 12118132 TFAM transcription factor A, mitochondrial gene DOID:0080855 Parkinsonism ISO RGD:733567 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum PMID:22040668|REF_RGD_ID:6484267 12118132 TFAM transcription factor A, mitochondrial gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:1605718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 12118132 TFAM transcription factor A, mitochondrial gene DOID:10003 sensorineural hearing loss ISO RGD:1605718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 12118132 TFAM transcription factor A, mitochondrial gene DOID:10652 Alzheimer's disease ISO RGD:1605718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 12118132 TFAM transcription factor A, mitochondrial gene DOID:10652 Alzheimer's disease ISO RGD:1605718 D RGD:9068941 20200609 RGD DNA:SNP: :rs1937 (human) PMID:21799244|REF_RGD_ID:6767575 12118132 TFAM transcription factor A, mitochondrial gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1605718 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS4+113A>G (rs2306604) (human) PMID:17537576|REF_RGD_ID:6771185 12118132 TFAM transcription factor A, mitochondrial gene DOID:12858 Huntington's disease ISO RGD:1605718 D RGD:9068941 20200609 RGD PMID:21595933|REF_RGD_ID:6770890 12118132 TFAM transcription factor A, mitochondrial gene DOID:12858 Huntington's disease ISO RGD:733567 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum PMID:20529956|REF_RGD_ID:6771173 12118132 TFAM transcription factor A, mitochondrial gene DOID:12934 Kearns-Sayre syndrome ISO RGD:733567 D RGD:9068941 20220825 MouseDO OMIM:530000 12118132 TFAM transcription factor A, mitochondrial gene DOID:13548 secondary Parkinson disease ISO RGD:1605718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28595911 12118132 TFAM transcription factor A, mitochondrial gene DOID:14330 Parkinson's disease ISO RGD:733567 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 12118132 TFAM transcription factor A, mitochondrial gene DOID:14330 Parkinson's disease no_association ISO RGD:1605718 D RGD:9068941 20200609 RGD DNA:missense mutation, SNP:exon, intron:p.S12T, IVS4+113A>G (rs1937, rs2306604) (human) PMID:17537576|REF_RGD_ID:6771185 12118132 TFAM transcription factor A, mitochondrial gene DOID:14330 Parkinson's disease no_association ISO RGD:1605718 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.S12T (rs1937) (human) PMID:18248889|REF_RGD_ID:6771184 12118132 TFAM transcription factor A, mitochondrial gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1605718 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS4+113A>G (rs2306604) (human) PMID:19925850|REF_RGD_ID:14389730 12118132 TFAM transcription factor A, mitochondrial gene DOID:1824 status epilepticus ISO RGD:620682 D RGD:9068941 20200609 RGD PMID:21854834|REF_RGD_ID:6767574 12118132 TFAM transcription factor A, mitochondrial gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:1605718 D RGD:9068941 20200609 RGD PMID:22354563|REF_RGD_ID:6767572 12118132 TFAM transcription factor A, mitochondrial gene DOID:630 genetic disease ISO RGD:1605718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12118132 TFAM transcription factor A, mitochondrial gene DOID:9000761 Deoxyguanosine Kinase Deficiency ISO RGD:1605718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome, hepatocerebral form PMID:27448789 12118132 TFAM transcription factor A, mitochondrial gene DOID:9001708 Hemorrhagic Shock ISO RGD:620682 D RGD:9068941 20200609 RGD PMID:22469910|REF_RGD_ID:6767567 12118132 TFAM transcription factor A, mitochondrial gene DOID:9002906 Multiple Organ Failure ISO RGD:1605718 D RGD:9068941 20200609 RGD associated with Sepsis;protein:increased expression:skeletal muscle PMID:18997871|REF_RGD_ID:6771188 12118132 TFAM transcription factor A, mitochondrial gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620682 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:18723421|REF_RGD_ID:2302400 12118132 TFAM transcription factor A, mitochondrial gene DOID:9004009 Reperfusion Injury ISO RGD:620682 D RGD:9068941 20200609 RGD PMID:22266265|REF_RGD_ID:6767573 12118132 TFAM transcription factor A, mitochondrial gene DOID:9005372 Inflammation ISO RGD:620682 D RGD:9068941 20200609 RGD PMID:22469910|REF_RGD_ID:6767567 12118132 TFAM transcription factor A, mitochondrial gene DOID:9006205 Animal Disease Models ISO RGD:1605718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28595911 12118132 TFAM transcription factor A, mitochondrial gene DOID:9007170 Bowen's Disease ISO RGD:1605718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21514422 12118132 TFAM transcription factor A, mitochondrial gene DOID:9007346 Cachexia ISO RGD:1605718 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive (COPD, MeSH:D029424); RNA, protein:decreased expression:skeletal muscle PMID:17459894|REF_RGD_ID:5683621 12118132 TFAM transcription factor A, mitochondrial gene DOID:9970 obesity ISO RGD:1605718 D RGD:9068941 20200609 RGD PMID:21862610|REF_RGD_ID:5683906 12118143 PACSIN1 protein kinase C and casein kinase substrate in neurons 1 gene DOID:0050553 JMP syndrome ISO RGD:736787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12118143 PACSIN1 protein kinase C and casein kinase substrate in neurons 1 gene DOID:630 genetic disease ISO RGD:736787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118169 UFSP1 UFM1 specific peptidase 1 (inactive) gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12118169 UFSP1 UFM1 specific peptidase 1 (inactive) gene DOID:630 genetic disease ISO RGD:1604425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118174 CPB2 carboxypeptidase B2 gene DOID:0050855 renal fibrosis ISO RGD:736000 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction; PMID:17988229|REF_RGD_ID:7243118 12118174 CPB2 carboxypeptidase B2 gene DOID:1184 nephrotic syndrome ISO RGD:731734 D RGD:9068941 20200609 RGD protein:increased activity,increased expression:plasma PMID:12439147|REF_RGD_ID:7243124 12118174 CPB2 carboxypeptidase B2 gene DOID:13241 Behcet's disease ISO RGD:731734 D RGD:9068941 20200609 RGD PMID:15668188|REF_RGD_ID:1598474 12118174 CPB2 carboxypeptidase B2 gene DOID:13938 amenorrhea ISO RGD:731734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16167916 12118174 CPB2 carboxypeptidase B2 gene DOID:2228 thrombocytosis ISO RGD:731734 D RGD:9068941 20200609 RGD PMID:16244771|REF_RGD_ID:1598473 12118174 CPB2 carboxypeptidase B2 gene DOID:2921 glomerulonephritis ISO RGD:736000 D RGD:9068941 20200609 RGD PMID:18612543|REF_RGD_ID:7243117 12118174 CPB2 carboxypeptidase B2 gene DOID:630 genetic disease ISO RGD:731734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118174 CPB2 carboxypeptidase B2 gene DOID:784 chronic kidney disease ISO RGD:731734 D RGD:9068941 20200609 RGD DNA:polymorphism:cds :p.A147T(rs3742264)(human) PMID:19056482|REF_RGD_ID:7243119 12118174 CPB2 carboxypeptidase B2 gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:731734 D RGD:9068941 20200609 RGD DNA:polymorphism: ;1542C>G(human) PMID:17327284|REF_RGD_ID:7243121 12118174 CPB2 carboxypeptidase B2 gene DOID:9000483 Angina Pectoris ISO RGD:731734 D RGD:9068941 20200609 RGD PMID:12624641|REF_RGD_ID:1598479 12118174 CPB2 carboxypeptidase B2 gene DOID:9000808 Hypercholesterolemia ISO RGD:731734 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:16123492|REF_RGD_ID:2313641 12118174 CPB2 carboxypeptidase B2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:731734 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:12574207|REF_RGD_ID:7243123 12118174 CPB2 carboxypeptidase B2 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:731734 D RGD:9068941 20200609 RGD DNA:SNP:cds:1040C>T(human) PMID:22932273|REF_RGD_ID:7243116 12118174 CPB2 carboxypeptidase B2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:71035 D RGD:9068941 20200609 RGD PMID:22768796|REF_RGD_ID:7243111 12118174 CPB2 carboxypeptidase B2 gene DOID:9002906 Multiple Organ Failure ISO RGD:71035 D RGD:9068941 20200609 RGD associated with sepsis, endotoxemia; PMID:19325462|REF_RGD_ID:7243114 12118174 CPB2 carboxypeptidase B2 gene DOID:9003121 Thromboembolism ISO RGD:731734 D RGD:9068941 20200609 RGD PMID:14739223|REF_RGD_ID:1598476 12118174 CPB2 carboxypeptidase B2 gene DOID:9004484 Sepsis ISO RGD:71035 D RGD:9068941 20200609 RGD protein:increased activity:plasma: PMID:15497025|REF_RGD_ID:2313648 12118174 CPB2 carboxypeptidase B2 gene DOID:9005036 Bacteremia ISO RGD:71035 D RGD:9068941 20200609 RGD protein:decreased activity:plasma PMID:17911187|REF_RGD_ID:2313646 12118174 CPB2 carboxypeptidase B2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:71035 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased activity:liver,plasma PMID:19386599|REF_RGD_ID:7243112 12118174 CPB2 carboxypeptidase B2 gene DOID:9007692 Insulin Resistance ISO RGD:731734 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma PMID:11836301|REF_RGD_ID:2313645 12118174 CPB2 carboxypeptidase B2 gene DOID:9007730 Burns ISO RGD:71035 D RGD:9068941 20200609 RGD protein:increased activity:plasma PMID:15497025|REF_RGD_ID:2313648 12118174 CPB2 carboxypeptidase B2 gene DOID:9008366 Meningococcal Infections ISO RGD:731734 D RGD:9068941 20200609 RGD PMID:14717966|REF_RGD_ID:1598478 12118174 CPB2 carboxypeptidase B2 gene DOID:9351 diabetes mellitus ISO RGD:731734 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:plasma PMID:14983223|REF_RGD_ID:2313643 12118174 CPB2 carboxypeptidase B2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731734 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:plasma PMID:11836301|REF_RGD_ID:2313645 12118174 CPB2 carboxypeptidase B2 gene DOID:9970 obesity ISO RGD:731734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16959692 12118174 CPB2 carboxypeptidase B2 gene DOID:9970 obesity ISO RGD:731734 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma PMID:11836301|REF_RGD_ID:2313645 12118189 NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12118189 NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit gene DOID:1826 epilepsy ISO RGD:1605347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12118189 NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605347 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12118189 NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1605347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12118189 NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit gene DOID:630 genetic disease ISO RGD:1605347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118212 PCBD2 pterin-4 alpha-carbinolamine dehydratase 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353306 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12118212 PCBD2 pterin-4 alpha-carbinolamine dehydratase 2 gene DOID:630 genetic disease ISO RGD:1353306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118212 PCBD2 pterin-4 alpha-carbinolamine dehydratase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12118212 PCBD2 pterin-4 alpha-carbinolamine dehydratase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353306 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12118219 CD27 CD27 molecule gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1353701 D RGD:7240710 20180130 OMIM 12118219 CD27 CD27 molecule gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1353701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:17576681|PMID:22197273|PMID:22801960|PMID:24033266|PMID:25640679|PMID:25741868|PMID:25843314|PMID:28492532|PMID:32499645|PMID:9536098 12118219 CD27 CD27 molecule gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1353701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12118219 CD27 CD27 molecule gene DOID:0111621 Temtamy syndrome ISO RGD:1353701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12118219 CD27 CD27 molecule gene DOID:0111962 combined immunodeficiency ISO RGD:1353701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25741868|PMID:25843314|PMID:28492532|PMID:32499645 12118219 CD27 CD27 molecule gene DOID:12930 dilated cardiomyopathy ISO RGD:1353701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 12118219 CD27 CD27 molecule gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1353701 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:25741868|PMID:28492532 12118219 CD27 CD27 molecule gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:1353701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined T and B cell immunodeficiency PMID:25741868|PMID:25843314|PMID:28492532|PMID:32499645 12118219 CD27 CD27 molecule gene DOID:630 genetic disease ISO RGD:1353701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12118219 CD27 CD27 molecule gene DOID:820 myocarditis ISO RGD:1353701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 12118219 CD27 CD27 molecule gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1560499 D RGD:9068941 20200609 RGD PMID:16698589|REF_RGD_ID:1581860 12118219 CD27 CD27 molecule gene DOID:9007346 Cachexia ISO RGD:1353701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17878525 12118219 CD27 CD27 molecule gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1353701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12118219 CD27 CD27 molecule gene DOID:934 viral infectious disease ISO RGD:1353701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 12118236 ASPHD2 aspartate beta-hydroxylase domain containing 2 gene DOID:0110271 cataract 23 ISO RGD:1601744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 12118236 ASPHD2 aspartate beta-hydroxylase domain containing 2 gene DOID:630 genetic disease ISO RGD:1601744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118244 RBM42 RNA binding motif protein 42 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1601847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12118244 RBM42 RNA binding motif protein 42 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1601847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12118244 RBM42 RNA binding motif protein 42 gene DOID:543 dystonia ISO RGD:1601847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12118244 RBM42 RNA binding motif protein 42 gene DOID:630 genetic disease ISO RGD:1601847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118360 MYT1L myelin transcription factor 1 like gene DOID:0060041 autism spectrum disorder ISO RGD:731726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12118360 MYT1L myelin transcription factor 1 like gene DOID:0070069 autosomal dominant intellectual developmental disorder 39 ISO RGD:731726 D RGD:7240710 20180130 OMIM 12118360 MYT1L myelin transcription factor 1 like gene DOID:0070069 autosomal dominant intellectual developmental disorder 39 ISO RGD:731726 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 39 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39, AND OBESITY PMID:23033978|PMID:25232846|PMID:25741868|PMID:28492532|PMID:28859103|PMID:30055078|PMID:30796847|PMID:33622623 12118360 MYT1L myelin transcription factor 1 like gene DOID:1059 intellectual disability ISO RGD:731726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28859103|PMID:30055078 12118360 MYT1L myelin transcription factor 1 like gene DOID:12849 autistic disorder ISO RGD:731726 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 12118360 MYT1L myelin transcription factor 1 like gene DOID:630 genetic disease ISO RGD:731726 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12118360 MYT1L myelin transcription factor 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12118413 YIPF1 Yip1 domain family member 1 gene DOID:630 genetic disease ISO RGD:1604013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118432 MCOLN2 mucolipin TRP cation channel 2 gene DOID:630 genetic disease ISO RGD:1318909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118456 BHLHA9 basic helix-loop-helix family member a9 gene DOID:0060432 chromosome 17p13.3 duplication syndrome ISO RGD:2302834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome PMID:21681106 12118456 BHLHA9 basic helix-loop-helix family member a9 gene DOID:630 genetic disease ISO RGD:2302834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118456 BHLHA9 basic helix-loop-helix family member a9 gene DOID:9002310 Split-Hand/Foot Malformation with Long Bone Deficiency 3 ISO RGD:2302834 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Chromosome 17P13.3, telomeric, duplication syndrome PMID:25741868 12118456 BHLHA9 basic helix-loop-helix family member a9 gene DOID:9002821 Bifid Femur with Monodactylous Ectrodactyly ISO RGD:2302834 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Gollop-Wolfgang complex PMID:25741868 12118456 BHLHA9 basic helix-loop-helix family member a9 gene DOID:9003579 Complex Camptosynpolydactyly ISO RGD:2302834 D RGD:7240710 20190315 OMIM 12118456 BHLHA9 basic helix-loop-helix family member a9 gene DOID:9003579 Complex Camptosynpolydactyly ISO RGD:2302834 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Camptosynpolydactyly, complex PMID:25741868|PMID:28492532 12118456 BHLHA9 basic helix-loop-helix family member a9 gene DOID:9005938 Mesoaxial Synostotic Syndactyly with Phalangeal Reduction ISO RGD:2302834 D RGD:7240710 20180130 OMIM 12118456 BHLHA9 basic helix-loop-helix family member a9 gene DOID:9005938 Mesoaxial Synostotic Syndactyly with Phalangeal Reduction ISO RGD:2302834 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mesoaxial synostotic syndactyly with phalangeal reduction PMID:15039974|PMID:25466284|PMID:25741868|PMID:28492532|PMID:9783716 12118491 GATM glycine amidinotransferase gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:731936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lennox-Gastaut syndrome 12118491 GATM glycine amidinotransferase gene DOID:0050712 AGAT deficiency ISO RGD:731936 D RGD:7240710 20180130 OMIM 12118491 GATM glycine amidinotransferase gene DOID:0050712 AGAT deficiency ISO RGD:731936 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:10762163|PMID:11555793|PMID:12468279|PMID:17576681|PMID:20301745|PMID:20625172|PMID:20682460|PMID:22386973|PMID:23660394|PMID:23770102|PMID:24415674|PMID:25741868|PMID:26003046|PMID:26467025|PMID:26490222|PMID:27233232|PMID:27577545|PMID:28492532|PMID:29654216|PMID:9536098 12118491 GATM glycine amidinotransferase gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:731936 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:25741868|PMID:29654216 12118491 GATM glycine amidinotransferase gene DOID:0080757 Fanconi renotubular syndrome 1 ISO RGD:731936 D RGD:7240710 20200701 OMIM 12118491 GATM glycine amidinotransferase gene DOID:0080757 Fanconi renotubular syndrome 1 ISO RGD:731936 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi renotubular syndrome 1 PMID:25741868|PMID:26467025|PMID:28492532|PMID:29654216|PMID:35738466 12118491 GATM glycine amidinotransferase gene DOID:1059 intellectual disability ISO RGD:731936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24415674|PMID:25741868|PMID:26003046|PMID:26467025|PMID:27233232|PMID:28492532 12118491 GATM glycine amidinotransferase gene DOID:1062 Fanconi syndrome ISO RGD:731936 D RGD:9068941 20221208 CTD CTD Direct Evidence: marker/mechanism 12118491 GATM glycine amidinotransferase gene DOID:1826 epilepsy ISO RGD:731936 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12118491 GATM glycine amidinotransferase gene DOID:2717 Bloom syndrome ISO RGD:731936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12118491 GATM glycine amidinotransferase gene DOID:3021 acute kidney failure ISO RGD:71090 D RGD:9068941 20200609 RGD protein:decreased activity:kidney (rat) PMID:2752493|REF_RGD_ID:1599823 12118491 GATM glycine amidinotransferase gene DOID:305 carcinoma ISO RGD:731936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12118491 GATM glycine amidinotransferase gene DOID:557 kidney disease ISO RGD:731936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22061828 12118491 GATM glycine amidinotransferase gene DOID:6000 congestive heart failure ISO RGD:731936 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:16820567|PMID:36071497 12118491 GATM glycine amidinotransferase gene DOID:630 genetic disease ISO RGD:731936 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:24415674|PMID:25741868|PMID:26003046|PMID:26467025|PMID:27233232|PMID:27577545|PMID:28492532|PMID:9536098 12118491 GATM glycine amidinotransferase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12118491 GATM glycine amidinotransferase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12118491 GATM glycine amidinotransferase gene DOID:9005749 Necrosis ISO RGD:731936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22061828 12118491 GATM glycine amidinotransferase gene DOID:9007102 Myocardial Ischemia ISO RGD:731936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12118491 GATM glycine amidinotransferase gene DOID:9256 colorectal cancer ISO RGD:731936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12118504 FUT7 fucosyltransferase 7 gene DOID:0050777 Joubert syndrome ISO RGD:1353646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12118504 FUT7 fucosyltransferase 7 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1353646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12118504 FUT7 fucosyltransferase 7 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1353646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12118504 FUT7 fucosyltransferase 7 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1353646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12118504 FUT7 fucosyltransferase 7 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1353646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12118504 FUT7 fucosyltransferase 7 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1353646 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12118504 FUT7 fucosyltransferase 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12118504 FUT7 fucosyltransferase 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353646 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12118504 FUT7 fucosyltransferase 7 gene DOID:0081097 Rafiq syndrome ISO RGD:1353646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12118504 FUT7 fucosyltransferase 7 gene DOID:11612 polycystic ovary syndrome ISO RGD:1353646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12118504 FUT7 fucosyltransferase 7 gene DOID:1826 epilepsy ISO RGD:1353646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12118504 FUT7 fucosyltransferase 7 gene DOID:3652 Leigh disease ISO RGD:1353646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12118504 FUT7 fucosyltransferase 7 gene DOID:630 genetic disease ISO RGD:1353646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118504 FUT7 fucosyltransferase 7 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1353646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12118516 ARFGAP3 ADP ribosylation factor GTPase activating protein 3 gene DOID:1059 intellectual disability ISO RGD:1344539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12118516 ARFGAP3 ADP ribosylation factor GTPase activating protein 3 gene DOID:630 genetic disease ISO RGD:1344539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118516 ARFGAP3 ADP ribosylation factor GTPase activating protein 3 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1344539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 12118545 APEH acylaminoacyl-peptide hydrolase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12118545 APEH acylaminoacyl-peptide hydrolase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12118545 APEH acylaminoacyl-peptide hydrolase gene DOID:630 genetic disease ISO RGD:735668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118545 APEH acylaminoacyl-peptide hydrolase gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:735668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12118573 LMO7 LIM domain 7 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1351855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12118573 LMO7 LIM domain 7 gene DOID:630 genetic disease ISO RGD:1351855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118629 SERINC3 serine incorporator 3 gene DOID:2234 focal epilepsy ISO RGD:1318130 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12118629 SERINC3 serine incorporator 3 gene DOID:630 genetic disease ISO RGD:1318130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118629 SERINC3 serine incorporator 3 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1318130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12118629 SERINC3 serine incorporator 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12118648 SLC12A1 solute carrier family 12 member 1 gene DOID:0050450 Gitelman syndrome ISO RGD:731943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia PMID:8640224 12118648 SLC12A1 solute carrier family 12 member 1 gene DOID:0110142 Bartter disease type 1 ISO RGD:731943 D RGD:7240710 20180130 OMIM 12118648 SLC12A1 solute carrier family 12 member 1 gene DOID:0110142 Bartter disease type 1 ISO RGD:731943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bartter disease type 1 PMID:12761241|PMID:15167446|PMID:17576681|PMID:18391953|PMID:19096086|PMID:19513753|PMID:19602640|PMID:20219833|PMID:21157372|PMID:21209010|PMID:23897314|PMID:24033266|PMID:24253496|PMID:24550759|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26963954|PMID:28000888|PMID:28095294|PMID:28492532|PMID:28893421|PMID:29398133|PMID:29942493|PMID:30076350|PMID:30113482|PMID:31625567|PMID:32997713|PMID:33532864|PMID:33973684|PMID:36092934|PMID:8640224|PMID:9355073|PMID:9536098|PMID:9585600 12118648 SLC12A1 solute carrier family 12 member 1 gene DOID:12679 nephrocalcinosis ISO RGD:731943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:17998760|PMID:18391953|PMID:19096086|PMID:28492532|PMID:28893421|PMID:8640224|PMID:9585600 12118648 SLC12A1 solute carrier family 12 member 1 gene DOID:14323 Marfan syndrome ISO RGD:731943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:21063442|PMID:25741868|PMID:26787436|PMID:28492532 12118648 SLC12A1 solute carrier family 12 member 1 gene DOID:2717 Bloom syndrome ISO RGD:731943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12118648 SLC12A1 solute carrier family 12 member 1 gene DOID:445 Bartter disease ISO RGD:731943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bartter syndrome PMID:28492532|PMID:29398133|PMID:35358470|PMID:36092934|PMID:9585600 12118648 SLC12A1 solute carrier family 12 member 1 gene DOID:630 genetic disease ISO RGD:731943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12118648 SLC12A1 solute carrier family 12 member 1 gene DOID:9001276 Failure to Thrive ISO RGD:731943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:28492532 12118648 SLC12A1 solute carrier family 12 member 1 gene DOID:9256 colorectal cancer ISO RGD:731943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12118685 BPHL biphenyl hydrolase like gene DOID:630 genetic disease ISO RGD:1316844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118699 TBC1D7 TBC1 domain family member 7 gene DOID:3393 coronary artery disease ISO RGD:36174094 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 12118699 TBC1D7 TBC1 domain family member 7 gene DOID:630 genetic disease ISO RGD:36174094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118699 TBC1D7 TBC1 domain family member 7 gene DOID:9003816 Macrocephaly ISO RGD:36174094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly 12118699 TBC1D7 TBC1 domain family member 7 gene DOID:9005840 Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive ISO RGD:36174094 D RGD:7240710 20200729 OMIM 12118699 TBC1D7 TBC1 domain family member 7 gene DOID:9005840 Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive ISO RGD:36174094 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Macrocephaly/megalencephaly syndrome, autosomal recessive PMID:23687350|PMID:24515783|PMID:25741868|PMID:28492532 12118723 ACADL acyl-CoA dehydrogenase long chain gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:733759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency 12118723 ACADL acyl-CoA dehydrogenase long chain gene DOID:14557 primary pulmonary hypertension ISO RGD:733759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12118723 ACADL acyl-CoA dehydrogenase long chain gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:733759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12118723 ACADL acyl-CoA dehydrogenase long chain gene DOID:630 genetic disease ISO RGD:733759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118723 ACADL acyl-CoA dehydrogenase long chain gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:733759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long chain acyl-CoA dehydrogenase deficiency PMID:25741868 12118723 ACADL acyl-CoA dehydrogenase long chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12118741 CCNH cyclin H gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:69470 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12118741 CCNH cyclin H gene DOID:0111563 Sturge-Weber syndrome ISO RGD:69470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkes Weber syndrome PMID:25741868|PMID:28492532 12118741 CCNH cyclin H gene DOID:0111563 Sturge-Weber syndrome ISO RGD:69470 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Parkes Weber syndrome PMID:24038909|PMID:25741868|PMID:27081547|PMID:28492532|PMID:28655553|PMID:29891884 12118741 CCNH cyclin H gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:69470 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:18446851|PMID:24038909|PMID:25741868|PMID:28295764|PMID:28492532|PMID:29891884 12118741 CCNH cyclin H gene DOID:224 transient cerebral ischemia ISO RGD:69419 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus PMID:10501206|REF_RGD_ID:69371 12118741 CCNH cyclin H gene DOID:2513 basal cell carcinoma ISO RGD:69470 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 PMID:18446851|PMID:24038909|PMID:25741868|PMID:28492532|PMID:29891884|PMID:8275088 12118741 CCNH cyclin H gene DOID:2926 Klippel-Trenaunay syndrome ISO RGD:69470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angio-osteohypertrophy syndrome 12118741 CCNH cyclin H gene DOID:305 carcinoma ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 12118741 CCNH cyclin H gene DOID:3068 glioblastoma ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12118741 CCNH cyclin H gene DOID:3908 lung non-small cell carcinoma ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12118741 CCNH cyclin H gene DOID:630 genetic disease ISO RGD:69470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12118741 CCNH cyclin H gene DOID:9000039 Spinal Cord Injuries ISO RGD:69419 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:21710280|REF_RGD_ID:9590263 12118741 CCNH cyclin H gene DOID:9000081 Lymphatic Metastasis ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12118741 CCNH cyclin H gene DOID:9000117 Esophageal Neoplasms ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12118741 CCNH cyclin H gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 12118741 CCNH cyclin H gene DOID:9002304 Prostatic Neoplasms ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12118741 CCNH cyclin H gene DOID:9002762 Ovarian Neoplasms ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12118741 CCNH cyclin H gene DOID:9002928 Colonic Neoplasms ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12118741 CCNH cyclin H gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12118741 CCNH cyclin H gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69419 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:12606953|REF_RGD_ID:9590264 12118741 CCNH cyclin H gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 12118741 CCNH cyclin H gene DOID:9005469 Capillary Malformation-Arteriovenous Malformation ISO RGD:69470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome PMID:14639529|PMID:16199547|PMID:17576681|PMID:18446851|PMID:22200646|PMID:23164092|PMID:23650393|PMID:23687085|PMID:24038909|PMID:24139535|PMID:25741868|PMID:26499346|PMID:27081547|PMID:27535533|PMID:28295764|PMID:28492532|PMID:28655553|PMID:29024832|PMID:29120072|PMID:29891884|PMID:30120215|PMID:9536098 12118741 CCNH cyclin H gene DOID:9006290 Central Nervous System Venous Angioma ISO RGD:69470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral venous angioma PMID:23650393|PMID:25741868|PMID:31680349 12118741 CCNH cyclin H gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69470 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12118741 CCNH cyclin H gene DOID:9007188 Liver Neoplasms ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12118741 CCNH cyclin H gene DOID:9007729 Multiple Basal Cell Carcinoma ISO RGD:69470 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, multiple PMID:24038909|PMID:25741868|PMID:28492532 12118741 CCNH cyclin H gene DOID:9008640 Capillary Malformation-Arteriovenous Malformation 1 ISO RGD:69470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 PMID:14639529|PMID:16199547|PMID:18363760|PMID:18446851|PMID:23164092|PMID:24038909|PMID:25040287|PMID:25741868|PMID:26499346|PMID:27081547|PMID:27535533|PMID:28492532|PMID:28655553|PMID:29891884 12118741 CCNH cyclin H gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:69470 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY PMID:25741868 12118741 CCNH cyclin H gene DOID:9008939 Breast Neoplasms ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12118766 GLOD4 glyoxalase domain containing 4 gene DOID:630 genetic disease ISO RGD:1315949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118779 OTUD5 OTU deubiquitinase 5 gene DOID:0060641 endocrine-cerebro-osteodysplasia syndrome ISO RGD:1604609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysplastic corpus callosum PMID:25741868 12118779 OTUD5 OTU deubiquitinase 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12118779 OTUD5 OTU deubiquitinase 5 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1604609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12118779 OTUD5 OTU deubiquitinase 5 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1604609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12118779 OTUD5 OTU deubiquitinase 5 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1604609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 PMID:28492532 12118779 OTUD5 OTU deubiquitinase 5 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1604609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12118779 OTUD5 OTU deubiquitinase 5 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1604609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12118779 OTUD5 OTU deubiquitinase 5 gene DOID:12849 autistic disorder ISO RGD:1604609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12118779 OTUD5 OTU deubiquitinase 5 gene DOID:3070 high grade glioma ISO RGD:1604609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12118779 OTUD5 OTU deubiquitinase 5 gene DOID:630 genetic disease ISO RGD:1604609 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:33523931 12118779 OTUD5 OTU deubiquitinase 5 gene DOID:9009180 MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED ISO RGD:1604609 D RGD:7240710 20210317 OMIM 12118779 OTUD5 OTU deubiquitinase 5 gene DOID:9009180 MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED ISO RGD:1604609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-neurodevelopmental syndrome, X-linked PMID:25741868|PMID:33131077|PMID:33523931 12118799 MARCHF3 membrane associated ring-CH-type finger 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1344254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12118799 MARCHF3 membrane associated ring-CH-type finger 3 gene DOID:630 genetic disease ISO RGD:1344254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118799 MARCHF3 membrane associated ring-CH-type finger 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12118799 MARCHF3 membrane associated ring-CH-type finger 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12118808 ALX1 ALX homeobox 1 gene DOID:0060668 anencephaly ISO RGD:10288 D RGD:9068941 20200609 RGD PMID:8673125|REF_RGD_ID:734689 12118808 ALX1 ALX homeobox 1 gene DOID:0081044 frontonasal dysplasia ISO RGD:732877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12118808 ALX1 ALX homeobox 1 gene DOID:0081047 frontonasal dysplasia 3 ISO RGD:732877 D RGD:7240710 20180130 OMIM 12118808 ALX1 ALX homeobox 1 gene DOID:0081047 frontonasal dysplasia 3 ISO RGD:732877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontonasal dysplasia 3 PMID:20451171|PMID:24467814|PMID:27324866|PMID:28492532 12118808 ALX1 ALX homeobox 1 gene DOID:3910 lung adenocarcinoma ISO RGD:732877 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 12118808 ALX1 ALX homeobox 1 gene DOID:630 genetic disease ISO RGD:732877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118808 ALX1 ALX homeobox 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9847249 12118886 C1QL2 complement C1q like 2 gene DOID:630 genetic disease ISO RGD:1350440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118892 HOMER3 homer scaffold protein 3 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:731655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12118892 HOMER3 homer scaffold protein 3 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:731655 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 12118892 HOMER3 homer scaffold protein 3 gene DOID:10126 keratoconus ISO RGD:731655 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 12118892 HOMER3 homer scaffold protein 3 gene DOID:630 genetic disease ISO RGD:731655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118892 HOMER3 homer scaffold protein 3 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:731655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12118892 HOMER3 homer scaffold protein 3 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:731655 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12118914 LOC485121 lysine-specific demethylase 4D gene DOID:1059 intellectual disability ISO RGD:1353550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12118914 LOC485121 lysine-specific demethylase 4D gene DOID:12704 ataxia telangiectasia ISO RGD:1353550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12118914 LOC485121 lysine-specific demethylase 4D gene DOID:2154 nephroblastoma ISO RGD:1353550 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (human) PMID:24219278|REF_RGD_ID:9588525 12118914 LOC485121 lysine-specific demethylase 4D gene DOID:630 genetic disease ISO RGD:1353550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118927 LIN7C lin-7 homolog C, crumbs cell polarity complex component gene DOID:1059 intellectual disability ISO RGD:735828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12118936 SLC17A2 solute carrier family 17 member 2 gene DOID:5082 liver cirrhosis ISO RGD:1318813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12118936 SLC17A2 solute carrier family 17 member 2 gene DOID:630 genetic disease ISO RGD:1318813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118936 SLC17A2 solute carrier family 17 member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12118964 SEPHS2 selenophosphate synthetase 2 gene DOID:0050860 colorectal adenoma ISO RGD:1318823 D RGD:9068941 20220407 RGD mRNA:decreased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 12118964 SEPHS2 selenophosphate synthetase 2 gene DOID:0080199 colorectal carcinoma ISO RGD:1318823 D RGD:9068941 20220407 RGD mRNA:decreased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 12118964 SEPHS2 selenophosphate synthetase 2 gene DOID:630 genetic disease ISO RGD:1318823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12118969 SETD1A SET domain containing 1A, histone lysine methyltransferase gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1605414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12118969 SETD1A SET domain containing 1A, histone lysine methyltransferase gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1605414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 12118969 SETD1A SET domain containing 1A, histone lysine methyltransferase gene DOID:1059 intellectual disability ISO RGD:1605414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12118969 SETD1A SET domain containing 1A, histone lysine methyltransferase gene DOID:12849 autistic disorder ISO RGD:1605414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 12118969 SETD1A SET domain containing 1A, histone lysine methyltransferase gene DOID:1826 epilepsy ISO RGD:1605414 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12118969 SETD1A SET domain containing 1A, histone lysine methyltransferase gene DOID:5419 schizophrenia ISO RGD:1605414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:26974950|PMID:28492532|PMID:32346159 12118969 SETD1A SET domain containing 1A, histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1605414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12118969 SETD1A SET domain containing 1A, histone lysine methyltransferase gene DOID:9001194 NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES ISO RGD:1605414 D RGD:7240710 20201216 OMIM 12118969 SETD1A SET domain containing 1A, histone lysine methyltransferase gene DOID:9001194 NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES ISO RGD:1605414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with speech impairment and dysmorphic facies PMID:24853937|PMID:25420024|PMID:25741868|PMID:26974950|PMID:32346159|PMID:36672956 12118969 SETD1A SET domain containing 1A, histone lysine methyltransferase gene DOID:9001558 EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY ISO RGD:1605414 D RGD:7240710 20200715 OMIM 12118969 SETD1A SET domain containing 1A, histone lysine methyltransferase gene DOID:9001558 EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY ISO RGD:1605414 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, early-onset, with or without developmental delay PMID:24853937|PMID:25420024|PMID:25741868|PMID:26974950|PMID:28492532|PMID:29463886|PMID:31197650|PMID:31595951 12118969 SETD1A SET domain containing 1A, histone lysine methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12118969 SETD1A SET domain containing 1A, histone lysine methyltransferase gene DOID:9008582 Developmental Disease ISO RGD:1605414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12118969 SETD1A SET domain containing 1A, histone lysine methyltransferase gene DOID:9009097 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies ISO RGD:1605414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PMID:25741868 12118992 GPR101 G protein-coupled receptor 101 gene DOID:0060022 CD40 ligand deficiency ISO RGD:1344763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12118992 GPR101 G protein-coupled receptor 101 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12118992 GPR101 G protein-coupled receptor 101 gene DOID:0060825 Christianson syndrome ISO RGD:1344763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12118992 GPR101 G protein-coupled receptor 101 gene DOID:0112007 growth hormone secreting pituitary adenoma 2 ISO RGD:1344763 D RGD:7240710 20180130 OMIM 12118992 GPR101 G protein-coupled receptor 101 gene DOID:0112007 growth hormone secreting pituitary adenoma 2 ISO RGD:1344763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary adenoma, growth hormone-secreting, 2 PMID:25470569|PMID:25806919|PMID:25806920|PMID:25806921|PMID:26792934|PMID:26815903|PMID:27245663|PMID:27498687|PMID:28492532|PMID:29389097 12118992 GPR101 G protein-coupled receptor 101 gene DOID:12849 autistic disorder ISO RGD:1344763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12118992 GPR101 G protein-coupled receptor 101 gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:1344763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12118992 GPR101 G protein-coupled receptor 101 gene DOID:630 genetic disease ISO RGD:1344763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12118992 GPR101 G protein-coupled receptor 101 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1344763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12118992 GPR101 G protein-coupled receptor 101 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1344763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12118992 GPR101 G protein-coupled receptor 101 gene DOID:9007823 Chromosome Xq26.3 Duplication Syndrome ISO RGD:1344763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome PMID:25712922|PMID:26935837 12118998 SPNS3 SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative) gene DOID:630 genetic disease ISO RGD:1601816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119026 BMF Bcl2 modifying factor gene DOID:2717 Bloom syndrome ISO RGD:1342866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12119026 BMF Bcl2 modifying factor gene DOID:630 genetic disease ISO RGD:1342866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119026 BMF Bcl2 modifying factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12119026 BMF Bcl2 modifying factor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1342866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770605 12119026 BMF Bcl2 modifying factor gene DOID:9256 colorectal cancer ISO RGD:1342866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12119044 TXNDC15 thioredoxin domain containing 15 gene DOID:0050778 Meckel syndrome ISO RGD:1312290 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868|PMID:27894351|PMID:29209597|PMID:31411728 12119044 TXNDC15 thioredoxin domain containing 15 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1312290 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12119044 TXNDC15 thioredoxin domain containing 15 gene DOID:630 genetic disease ISO RGD:1312290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119044 TXNDC15 thioredoxin domain containing 15 gene DOID:9001990 Meckel Syndrome 14 ISO RGD:1312290 D RGD:7240710 20220518 OMIM 12119044 TXNDC15 thioredoxin domain containing 15 gene DOID:9001990 Meckel Syndrome 14 ISO RGD:1312290 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Meckel syndrome 14 PMID:25741868|PMID:27894351|PMID:31411728 12119044 TXNDC15 thioredoxin domain containing 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12119044 TXNDC15 thioredoxin domain containing 15 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312290 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12119053 OC90 otoconin 90 gene DOID:3426 vestibular disease ISO RGD:1606848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21269433 12119053 OC90 otoconin 90 gene DOID:630 genetic disease ISO RGD:1606848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119080 MALSU1 mitochondrial assembly of ribosomal large subunit 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12119080 MALSU1 mitochondrial assembly of ribosomal large subunit 1 gene DOID:630 genetic disease ISO RGD:1315834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119088 LOC611347 uncharacterized LOC611347 gene DOID:9970 obesity ISO RGD:68388 D RGD:9068941 20200609 RGD PMID:17706946|REF_RGD_ID:1642093 12119088 LOC611347 uncharacterized LOC611347 gene DOID:9970 obesity ISO RGD:68565 D RGD:9068941 20200609 RGD PMID:15448684|REF_RGD_ID:1642095 12119111 UBE2N ubiquitin conjugating enzyme E2 N gene DOID:630 genetic disease ISO RGD:1348630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119111 UBE2N ubiquitin conjugating enzyme E2 N gene DOID:9004994 Embryo Loss ISO RGD:1348630 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:16738225 12119116 DEFB128 defensin beta 128 gene DOID:630 genetic disease ISO RGD:1352295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119116 DEFB128 defensin beta 128 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12119122 MS4A13 membrane spanning 4-domains A13 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12119122 MS4A13 membrane spanning 4-domains A13 gene DOID:1059 intellectual disability ISO RGD:1606059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12119122 MS4A13 membrane spanning 4-domains A13 gene DOID:630 genetic disease ISO RGD:1606059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119136 OR5AS1 olfactory receptor family 5 subfamily AS member 1 gene DOID:1059 intellectual disability ISO RGD:1343270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12119136 OR5AS1 olfactory receptor family 5 subfamily AS member 1 gene DOID:630 genetic disease ISO RGD:1343270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119140 POPDC3 popeye domain containing 3 gene DOID:630 genetic disease ISO RGD:1343916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119140 POPDC3 popeye domain containing 3 gene DOID:9002441 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 ISO RGD:1343916 D RGD:7240710 20200429 OMIM 12119140 POPDC3 popeye domain containing 3 gene DOID:9002441 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 ISO RGD:1343916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 26 PMID:31610034 12119154 MIR197 microRNA mir-197 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1348973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12119154 MIR197 microRNA mir-197 gene DOID:12849 autistic disorder ISO RGD:1348973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12119154 MIR197 microRNA mir-197 gene DOID:1790 malignant mesothelioma ISO RGD:1348973 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27716620 12119154 MIR197 microRNA mir-197 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348973 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 12119154 MIR197 microRNA mir-197 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1348973 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12119154 MIR197 microRNA mir-197 gene DOID:9452 fatty liver disease ISO RGD:1348973 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12119237 PUS3 pseudouridine synthase 3 gene DOID:0050779 hydrolethalus syndrome ISO RGD:1345902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrolethalus syndrome PMID:15843405|PMID:18648327|PMID:19400947|PMID:19656802|PMID:25741868|PMID:28492532 12119237 PUS3 pseudouridine synthase 3 gene DOID:0060668 anencephaly ISO RGD:1345902 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Anencephaly PMID:25741868|PMID:27055666|PMID:31680349 12119237 PUS3 pseudouridine synthase 3 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1345902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12119237 PUS3 pseudouridine synthase 3 gene DOID:0111355 hydrolethalus syndrome 1 ISO RGD:1345902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrolethalus syndrome 1 PMID:15843405|PMID:18648327|PMID:19400947|PMID:19656802|PMID:25741868|PMID:28492532 12119237 PUS3 pseudouridine synthase 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1345902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12119237 PUS3 pseudouridine synthase 3 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1345902 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dandy-Walker malformation PMID:25741868|PMID:28492532|PMID:30697592|PMID:31474318 12119237 PUS3 pseudouridine synthase 3 gene DOID:5419 schizophrenia ISO RGD:1345902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12119237 PUS3 pseudouridine synthase 3 gene DOID:630 genetic disease ISO RGD:1345902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12119237 PUS3 pseudouridine synthase 3 gene DOID:9000355 Neurodevelopmental Disorder with Microcephaly and Gray Sclerae ISO RGD:1345902 D RGD:7240710 20190315 OMIM 12119237 PUS3 pseudouridine synthase 3 gene DOID:9000355 Neurodevelopmental Disorder with Microcephaly and Gray Sclerae ISO RGD:1345902 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE PMID:25741868|PMID:27055666|PMID:28454995|PMID:28492532|PMID:30697592|PMID:31444731|PMID:31474318|PMID:34415064 12119237 PUS3 pseudouridine synthase 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12119237 PUS3 pseudouridine synthase 3 gene DOID:9007661 Dwarfism ISO RGD:1345902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12119252 OR2Z1 olfactory receptor family 2 subfamily Z member 1 gene DOID:10283 prostate cancer ISO RGD:1347587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12119252 OR2Z1 olfactory receptor family 2 subfamily Z member 1 gene DOID:12849 autistic disorder ISO RGD:1347587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12119252 OR2Z1 olfactory receptor family 2 subfamily Z member 1 gene DOID:630 genetic disease ISO RGD:1347587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119257 PCDH8 protocadherin 8 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:735353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12119257 PCDH8 protocadherin 8 gene DOID:1059 intellectual disability ISO RGD:735353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12119257 PCDH8 protocadherin 8 gene DOID:630 genetic disease ISO RGD:735353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119257 PCDH8 protocadherin 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 12119270 GFOD1 Gfo/Idh/MocA-like oxidoreductase domain containing 1 gene DOID:3393 coronary artery disease ISO RGD:1323002 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 12119270 GFOD1 Gfo/Idh/MocA-like oxidoreductase domain containing 1 gene DOID:630 genetic disease ISO RGD:1323002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119308 ACER3 alkaline ceramidase 3 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1346570 D RGD:9068941 20200716 RGD mRNA:increased expression:liver PMID:31949129|REF_RGD_ID:35673324 12119308 ACER3 alkaline ceramidase 3 gene DOID:0080547 non-alcoholic steatohepatitis disease_progression ISO RGD:1558553 D RGD:9068941 20200716 RGD PMID:31949129|REF_RGD_ID:35673324 12119308 ACER3 alkaline ceramidase 3 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:1558553 D RGD:9068941 20200716 RGD PMID:31949129|REF_RGD_ID:35673324 12119308 ACER3 alkaline ceramidase 3 gene DOID:1059 intellectual disability ISO RGD:1346570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12119308 ACER3 alkaline ceramidase 3 gene DOID:1909 melanoma ISO RGD:1346570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12119308 ACER3 alkaline ceramidase 3 gene DOID:219 colon cancer severity ISO RGD:1558553 D RGD:9068941 20200716 RGD associated with colitis PMID:26938296|REF_RGD_ID:35673322 12119308 ACER3 alkaline ceramidase 3 gene DOID:630 genetic disease ISO RGD:1346570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12119308 ACER3 alkaline ceramidase 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346570 D RGD:9068941 20200716 RGD PMID:30097213|REF_RGD_ID:35673325 12119308 ACER3 alkaline ceramidase 3 gene DOID:9000099 Experimental Colitis ISO RGD:1558553 D RGD:9068941 20200716 RGD mRNA,protein:decreased expression, decreased activity:colon: PMID:26938296|REF_RGD_ID:35673322 12119308 ACER3 alkaline ceramidase 3 gene DOID:9000099 Experimental Colitis severity ISO RGD:1558553 D RGD:9068941 20200716 RGD PMID:26938296|REF_RGD_ID:35673322 12119308 ACER3 alkaline ceramidase 3 gene DOID:9009078 Progressive Leukodystrophy, Early Childhood-Onset ISO RGD:1346570 D RGD:7240710 20190315 OMIM 12119308 ACER3 alkaline ceramidase 3 gene DOID:9009078 Progressive Leukodystrophy, Early Childhood-Onset ISO RGD:1346570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET PMID:25741868|PMID:26792856|PMID:28492532|PMID:30575723 12119340 M1AP meiosis 1 associated protein gene DOID:0070168 spermatogenic failure 3 ISO RGD:1604532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:32673564 12119340 M1AP meiosis 1 associated protein gene DOID:0070176 spermatogenic failure 4 ISO RGD:1604532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenesis maturation arrest PMID:32017041 12119340 M1AP meiosis 1 associated protein gene DOID:0112176 spermatogenic failure 48 ISO RGD:1604532 D RGD:7240710 20201209 OMIM 12119340 M1AP meiosis 1 associated protein gene DOID:0112176 spermatogenic failure 48 ISO RGD:1604532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 48 PMID:25741868|PMID:32017041|PMID:32673564 12119340 M1AP meiosis 1 associated protein gene DOID:630 genetic disease ISO RGD:1604532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119340 M1AP meiosis 1 associated protein gene DOID:9003436 CRYPTOZOOSPERMIA ISO RGD:1604532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptozoospermia PMID:25741868|PMID:32673564 12119375 GTF2H4 general transcription factor IIH subunit 4 gene DOID:0050553 JMP syndrome ISO RGD:1352501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12119375 GTF2H4 general transcription factor IIH subunit 4 gene DOID:11372 megacolon ISO RGD:1352501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12119375 GTF2H4 general transcription factor IIH subunit 4 gene DOID:630 genetic disease ISO RGD:1352501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119403 AMN amnion associated transmembrane protein gene DOID:0050731 vitamin B12 deficiency ISO RGD:1318522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitamin B12 deficiency PMID:25741868 12119403 AMN amnion associated transmembrane protein gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1318522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12119403 AMN amnion associated transmembrane protein gene DOID:13382 megaloblastic anemia ISO RGD:1318522 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Megaloblastic anemia | ClinVar Annotator: match by term: Megaloblastic anemia due to inborn errors of metabolism PMID:12590260|PMID:13852753|PMID:15024727|PMID:16199547|PMID:17114957|PMID:17285242|PMID:17576681|PMID:21750092|PMID:22078000|PMID:22929189|PMID:24156255|PMID:25741868|PMID:28492532|PMID:30523278|PMID:6741523|PMID:9536098 12119403 AMN amnion associated transmembrane protein gene DOID:13382 megaloblastic anemia susceptibility ISO RGD:1318522 D RGD:9068941 20200609 RGD PMID:12590260|REF_RGD_ID:1599101 12119403 AMN amnion associated transmembrane protein gene DOID:3021 acute kidney failure ISO RGD:1318522 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20514524 12119403 AMN amnion associated transmembrane protein gene DOID:630 genetic disease ISO RGD:1318522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12119403 AMN amnion associated transmembrane protein gene DOID:9000197 Edema ISO RGD:1318522 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17698245 12119403 AMN amnion associated transmembrane protein gene DOID:9001392 Herpes Simplex Encephalitis 3 ISO RGD:1318522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 PMID:28492532 12119403 AMN amnion associated transmembrane protein gene DOID:9001579 Neurogenic Inflammation ISO RGD:1318522 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16938409|PMID:17698245 12119403 AMN amnion associated transmembrane protein gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1318522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 12119403 AMN amnion associated transmembrane protein gene DOID:9006481 Imerslund-Grasbeck Syndrome 1 IAGP D RGD:12801476 20210603 OMIA Intestinal cobalamin malabsorption, AMN-related PMID:1848001|PMID:1999430|PMID:11023127|PMID:14722725|PMID:1941244|PMID:14576052|PMID:15845892|PMID:26483576|PMID:31758868 12119403 AMN amnion associated transmembrane protein gene DOID:9006481 Imerslund-Grasbeck Syndrome 1 ISO RGD:1318522 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type PMID:12590260|PMID:13852753|PMID:15024727|PMID:16199547|PMID:17114957|PMID:17285242|PMID:17576681|PMID:21750092|PMID:22078000|PMID:22929189|PMID:24156255|PMID:25741868|PMID:28492532|PMID:30523278|PMID:6741523|PMID:9536098 12119403 AMN amnion associated transmembrane protein gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1318522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:12590260|PMID:13852753|PMID:15024727|PMID:16199547|PMID:17114957|PMID:17285242|PMID:17576681|PMID:18181028|PMID:21750092|PMID:22078000|PMID:22631584|PMID:22929189|PMID:24156255|PMID:25741868|PMID:28492532|PMID:30523278|PMID:30691194|PMID:6741523|PMID:9536098 12119403 AMN amnion associated transmembrane protein gene DOID:9007240 Imerslund-Grasbeck Syndrome 2 ISO RGD:1318522 D RGD:7240710 20200610 OMIM 12119403 AMN amnion associated transmembrane protein gene DOID:9007240 Imerslund-Grasbeck Syndrome 2 ISO RGD:1318522 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE | ClinVar Annotator: match by term: Megaloblastic anemia 1, Norwegian type PMID:12590260|PMID:13852753|PMID:15024727|PMID:16199547|PMID:17114957|PMID:17285242|PMID:17576681|PMID:22078000|PMID:22929189|PMID:24156255|PMID:25741868|PMID:26040326|PMID:28492532|PMID:30523278|PMID:6741523|PMID:9536098 12119403 AMN amnion associated transmembrane protein gene DOID:9008511 Extravasation of Diagnostic and Therapeutic Materials ISO RGD:1318522 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17698245 12119413 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:0050891 adrenal cortical adenoma ISO RGD:1344608 D RGD:9068941 20200609 RGD associated with Cushing syndrome;DNA:point mutation:CDS:p.L206R (c.617T>G) (human) PMID:24855271|REF_RGD_ID:13515122 12119413 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:0080182 mixed fibrolamellar hepatocellular carcinoma susceptibility ISO RGD:1312337 D RGD:9068941 20220204 RGD PMID:28923495|REF_RGD_ID:151347843 12119413 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1344608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29341352 12119413 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 ISO RGD:1344608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ACTH-independent adrenal Cushing syndrome, somatic PMID:24571724|PMID:24700472|PMID:24747643|PMID:24855271 12119413 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:2316 brain ischemia ISO RGD:3389 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus, cerebral cortex, nucleus PMID:12150772|REF_RGD_ID:7327190 12119413 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:4947 cholangiocarcinoma ISO RGD:1344608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26258846 12119413 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:5015 fibrolamellar carcinoma ISO RGD:1312336 D RGD:9068941 20220204 RGD mRNA,protein:increased expression:liver (human) PMID:27027723|REF_RGD_ID:151347845 12119413 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:6000 congestive heart failure ISO RGD:1344608 D RGD:9068941 20200609 RGD PMID:10830164|REF_RGD_ID:1580714 12119413 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:630 genetic disease ISO RGD:1344608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119413 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:1344608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747643 12119413 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:3389 D RGD:9068941 20200609 RGD PMID:7769990|REF_RGD_ID:7327191 12119413 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12119413 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:9004765 Cardioacrofacial Dysplasia 1 ISO RGD:1344608 D RGD:7240710 20210113 OMIM 12119413 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:9004765 Cardioacrofacial Dysplasia 1 ISO RGD:1344608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardioacrofacial dysplasia 1 PMID:25741868|PMID:33058759 12119413 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:9006355 Primary Pigmented Nodular Adrenocortical Disease, 4 ISO RGD:1344608 D RGD:7240710 20180130 OMIM 12119413 PRKACA protein kinase cAMP-activated catalytic subunit alpha gene DOID:9006355 Primary Pigmented Nodular Adrenocortical Disease, 4 ISO RGD:1344608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 4 PMID:24571724|PMID:24700472|PMID:24747643|PMID:24855271 12119424 SLC15A1 solute carrier family 15 member 1 gene DOID:0110878 holoprosencephaly 5 ISO RGD:730868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 12119424 SLC15A1 solute carrier family 15 member 1 gene DOID:4621 holoprosencephaly ISO RGD:730868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 12119424 SLC15A1 solute carrier family 15 member 1 gene DOID:630 genetic disease ISO RGD:730868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119424 SLC15A1 solute carrier family 15 member 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:730868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12119451 TP53 tumor protein p53 gene DOID:0001816 angiosarcoma ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10930038|PMID:13678655|PMID:20737008 12119451 TP53 tumor protein p53 gene DOID:0001816 angiosarcoma ISO RGD:11440 D RGD:9068941 20220310 RGD DNA:mutation:multiple (human) PMID:26440310|REF_RGD_ID:151665099 12119451 TP53 tumor protein p53 gene DOID:0001816 angiosarcoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10626228 12119451 TP53 tumor protein p53 gene DOID:0002116 pterygium ISO RGD:70502 D RGD:9068941 20200609 RGD protein:altered expression:pterygia: PMID:19065760|REF_RGD_ID:8547760 12119451 TP53 tumor protein p53 gene DOID:0050638 transthyretin amyloidosis ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis PMID:10432928|PMID:10589545|PMID:10922393|PMID:12826609|PMID:15037740|PMID:15977174|PMID:17015838|PMID:18307025|PMID:19101993|PMID:20128691|PMID:20407015|PMID:20805372|PMID:21343334|PMID:21356188|PMID:21761402|PMID:22923379|PMID:23630318|PMID:24381225|PMID:24487413|PMID:24641375|PMID:24702488|PMID:25741868|PMID:26467025|PMID:26619011|PMID:27714481|PMID:28492532|PMID:29979965|PMID:30224644|PMID:30816478|PMID:8118819|PMID:9242456|PMID:9662334 12119451 TP53 tumor protein p53 gene DOID:0050685 small cell carcinoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17290066 12119451 TP53 tumor protein p53 gene DOID:0050700 cardiomyopathy ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16013437 12119451 TP53 tumor protein p53 gene DOID:0050700 cardiomyopathy ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31618665 12119451 TP53 tumor protein p53 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:11440 D RGD:9068941 20220825 MouseDO 12119451 TP53 tumor protein p53 gene DOID:0050834 CHARGE syndrome ISO RGD:11440 D RGD:9068941 20220825 MouseDO OMIM:214800 12119451 TP53 tumor protein p53 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:8264230|REF_RGD_ID:13210753 12119451 TP53 tumor protein p53 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:3889 D RGD:9068941 20200609 RGD protein:increased expression:tongue: PMID:20385474|REF_RGD_ID:8547851 12119451 TP53 tumor protein p53 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:11440 D RGD:9068941 20220826 RGD protein:increased expression:mouth (human) PMID:34111459|REF_RGD_ID:153344573 12119451 TP53 tumor protein p53 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:missense mutations: :multiple PMID:27283772|REF_RGD_ID:14995497 12119451 TP53 tumor protein p53 gene DOID:0050902 medulloblastoma ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma, somatic PMID:10411893|PMID:10797439|PMID:10864200|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12007217|PMID:12672316|PMID:12826609|PMID:12917626|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15951970|PMID:1631137|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:1737852|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18511570|PMID:18685109|PMID:19378321|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26271412|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27533082|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27895058|PMID:27959731|PMID:28152038|PMID:2826609|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28915717|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:7732013|PMID:7887414|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8825920|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9632751|PMID:9635828|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:0050902 medulloblastoma ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic PMID:10411893|PMID:10797439|PMID:10864200|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12672316|PMID:12826609|PMID:12917626|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15381368|PMID:15390294|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15951970|PMID:1631137|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:1737852|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18511570|PMID:19378321|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:7732013|PMID:7887414|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8825920|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9632751|PMID:9635828|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:0050902 medulloblastoma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:10411893|PMID:10797439|PMID:10864200|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12672316|PMID:12826609|PMID:12917626|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15381368|PMID:15390294|PMID:15607980|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15951970|PMID:1631137|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17308077|PMID:1737852|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18511570|PMID:19378321|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:33245408|PMID:33257846|PMID:33372952|PMID:7732013|PMID:7887414|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8825920|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9632751|PMID:9635828|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:0050902 medulloblastoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:10411893|PMID:10797439|PMID:10864200|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12007217|PMID:12672316|PMID:12826609|PMID:12917626|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15951970|PMID:1631137|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17308077|PMID:1737852|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18511570|PMID:18685109|PMID:19378321|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23612969|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30327374|PMID:30546832|PMID:30816478|PMID:31119730|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:33245408|PMID:33257846|PMID:33372952|PMID:7732013|PMID:7887414|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8825920|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9632751|PMID:9635828|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:0050902 medulloblastoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:10411893|PMID:10797439|PMID:10864200|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12007217|PMID:12672316|PMID:12826609|PMID:12917626|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15951970|PMID:1631137|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17308077|PMID:1737852|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18511570|PMID:18685109|PMID:19378321|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21059199|PMID:21187651|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23612969|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26271412|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30327374|PMID:30546832|PMID:30816478|PMID:31105275|PMID:31119730|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:33245408|PMID:33257846|PMID:33372952|PMID:36988593|PMID:7732013|PMID:7887414|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8825920|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9632751|PMID:9635828|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:0050902 medulloblastoma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:11451203|REF_RGD_ID:8547823 12119451 TP53 tumor protein p53 gene DOID:0050908 myelodysplastic syndrome ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:10411893|PMID:10797439|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12826609|PMID:1359493|PMID:15004724|PMID:15381368|PMID:1565143|PMID:15722483|PMID:15825182|PMID:1631137|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17417627|PMID:17427234|PMID:17606709|PMID:18511570|PMID:19378321|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:21059199|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:22919068|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23538418|PMID:23667202|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24810334|PMID:25157968|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31775759|PMID:32000721|PMID:33372952|PMID:36988593|PMID:7887414|PMID:8062826|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:25412846|REF_RGD_ID:11057925 12119451 TP53 tumor protein p53 gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:mutation: : PMID:24836762|REF_RGD_ID:11073714 12119451 TP53 tumor protein p53 gene DOID:0050908 myelodysplastic syndrome no_association ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:SNP:cds: p.R72P(rs1042522)(human) PMID:22668018|REF_RGD_ID:11073731 12119451 TP53 tumor protein p53 gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:24043769|REF_RGD_ID:11073729 12119451 TP53 tumor protein p53 gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:25573287|REF_RGD_ID:11075071 12119451 TP53 tumor protein p53 gene DOID:0060058 lymphoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lymphoma PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:12826609|PMID:15004724|PMID:15381368|PMID:1565143|PMID:15722483|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17606709|PMID:18511570|PMID:19556618|PMID:1978757|PMID:20113312|PMID:20128691|PMID:20407015|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24810334|PMID:25157968|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28492532|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31775759|PMID:32000721|PMID:33372952|PMID:36988593|PMID:7887414|PMID:8062826|PMID:9242456|PMID:9546439|PMID:9569050 12119451 TP53 tumor protein p53 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant lymphoma, non-Hodgkin | ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:10864200|PMID:10922393|PMID:11370630|PMID:11429705|PMID:11782540|PMID:11896595|PMID:11920959|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1565143|PMID:1565144|PMID:15850016|PMID:15982667|PMID:16007150|PMID:16312222|PMID:16818505|PMID:16861262|PMID:17606709|PMID:17724467|PMID:18453682|PMID:18555592|PMID:19012332|PMID:19171880|PMID:19468865|PMID:19556618|PMID:19913028|PMID:20128691|PMID:20407015|PMID:20505364|PMID:20972454|PMID:21059199|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21519010|PMID:21674059|PMID:21761402|PMID:22186996|PMID:22672556|PMID:22887876|PMID:22915647|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23259501|PMID:24573247|PMID:25186627|PMID:25584008|PMID:25619955|PMID:25741868|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26230955|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26787237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27077130|PMID:27276561|PMID:27463065|PMID:27616075|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28279309|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28802053|PMID:28975465|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29581140|PMID:29955864|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30675318|PMID:30730202|PMID:30816478|PMID:31775759|PMID:32000721|PMID:32318955|PMID:32475984|PMID:8023157|PMID:8401536|PMID:8633021|PMID:8718514|PMID:8829627 12119451 TP53 tumor protein p53 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 12119451 TP53 tumor protein p53 gene DOID:0060071 pre-malignant neoplasm ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21317887 12119451 TP53 tumor protein p53 gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:28573231|REF_RGD_ID:14995494 12119451 TP53 tumor protein p53 gene DOID:0060074 ductal carcinoma in situ ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ductal carcinoma in situ PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:12826609|PMID:15004724|PMID:15381368|PMID:1565143|PMID:15722483|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17606709|PMID:18511570|PMID:19556618|PMID:1978757|PMID:20113312|PMID:20128691|PMID:20407015|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24810334|PMID:25157968|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28492532|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31775759|PMID:32000721|PMID:33372952|PMID:36988593|PMID:7887414|PMID:8062826|PMID:9242456|PMID:9546439|PMID:9569050 12119451 TP53 tumor protein p53 gene DOID:0070004 myeloid neoplasm ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29370077 12119451 TP53 tumor protein p53 gene DOID:0070019 autosomal recessive dyskeratosis congenita 3 ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 3 PMID:17683073|PMID:24033266|PMID:25741868|PMID:28492532 12119451 TP53 tumor protein p53 gene DOID:0080006 bone development disease ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9493073 12119451 TP53 tumor protein p53 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12119451 TP53 tumor protein p53 gene DOID:0080199 colorectal carcinoma ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:missense mutation::p.R72P (human) PMID:29560751|REF_RGD_ID:14995498 12119451 TP53 tumor protein p53 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:10713666|PMID:11479205|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12826609|PMID:16494995|PMID:16736287|PMID:1673792|PMID:16861262|PMID:1686725|PMID:17541742|PMID:17606709|PMID:18208484|PMID:19468865|PMID:20128691|PMID:20522432|PMID:21343334|PMID:21626334|PMID:23259501|PMID:23625637|PMID:24033266|PMID:24384472|PMID:24728327|PMID:25503501|PMID:25584008|PMID:25741868|PMID:26270727|PMID:26467025|PMID:26619011|PMID:27489289|PMID:28369373|PMID:28492532|PMID:28861920|PMID:29324801|PMID:29489754|PMID:29979965|PMID:30224644|PMID:30299350|PMID:30720243|PMID:31775759|PMID:7707106|PMID:7881428|PMID:8080050|PMID:8364550|PMID:8869100 12119451 TP53 tumor protein p53 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:10713666|PMID:11479205|PMID:11782540|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12826609|PMID:14559903|PMID:16322298|PMID:16494995|PMID:16736287|PMID:1673792|PMID:16818505|PMID:16861262|PMID:1686725|PMID:17541742|PMID:17606709|PMID:17724467|PMID:18208484|PMID:18818522|PMID:19468865|PMID:20128691|PMID:20407015|PMID:20505364|PMID:20522432|PMID:21343334|PMID:21514416|PMID:21519010|PMID:21626334|PMID:21761402|PMID:22186996|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23625637|PMID:24033266|PMID:24384472|PMID:24728327|PMID:25503501|PMID:25584008|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26270727|PMID:26467025|PMID:26585234|PMID:26619011|PMID:27276561|PMID:27463065|PMID:27489289|PMID:27533082|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28369373|PMID:28492532|PMID:28861920|PMID:29070607|PMID:29324801|PMID:29470806|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30224644|PMID:30299350|PMID:30327374|PMID:30630526|PMID:30720243|PMID:30840781|PMID:31119730|PMID:31775759|PMID:33332384|PMID:33372952|PMID:34805717|PMID:6736287|PMID:7707106|PMID:7881428|PMID:8080050|PMID:8364550|PMID:8869100 12119451 TP53 tumor protein p53 gene DOID:0080202 adenoid cystic carcinoma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:16249115|REF_RGD_ID:8547828 12119451 TP53 tumor protein p53 gene DOID:0080522 thyroid gland anaplastic carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Thyroid gland undifferentiated (anaplastic) carcinoma PMID:10864200|PMID:12672316|PMID:12826609|PMID:15390294|PMID:15607980|PMID:1565144|PMID:15951970|PMID:16401470|PMID:16489069|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18511570|PMID:20128691|PMID:20516128|PMID:20693561|PMID:21343334|PMID:21484931|PMID:21552135|PMID:21761402|PMID:22811390|PMID:22899716|PMID:23161690|PMID:24381225|PMID:24487413|PMID:24641375|PMID:24677579|PMID:25157968|PMID:25584008|PMID:25741868|PMID:25787918|PMID:26332594|PMID:26467025|PMID:26619011|PMID:26681312|PMID:27374712|PMID:27993330|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29489754|PMID:29979965|PMID:30224644|PMID:30816478|PMID:31882575|PMID:33372952|PMID:36988593|PMID:7732013|PMID:8423216|PMID:9242456|PMID:9569050 12119451 TP53 tumor protein p53 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:22699455|REF_RGD_ID:11075072 12119451 TP53 tumor protein p53 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24056718 12119451 TP53 tumor protein p53 gene DOID:0081267 graft-versus-host disease ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:epithelium PMID:16393253|REF_RGD_ID:8547841 12119451 TP53 tumor protein p53 gene DOID:0081292 traumatic brain injury treatment ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:27553877|REF_RGD_ID:14995939 12119451 TP53 tumor protein p53 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 12119451 TP53 tumor protein p53 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 12119451 TP53 tumor protein p53 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:20369488|REF_RGD_ID:8547768 12119451 TP53 tumor protein p53 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:70502 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12119451 TP53 tumor protein p53 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:70502 D RGD:7240710 20180130 OMIM 12119451 TP53 tumor protein p53 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 PMID:10064694|PMID:10229196|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10477429|PMID:10484981|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10606817|PMID:10706125|PMID:10713666|PMID:10719737|PMID:10753186|PMID:10754498|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11254385|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11403041|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668501|PMID:11715068|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12067251|PMID:12170762|PMID:12209975|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12716906|PMID:12726864|PMID:12779080|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1394133|PMID:14559903|PMID:14584079|PMID:14612556|PMID:14670539|PMID:14673037|PMID:1467311|PMID:14965603|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15221755|PMID:15308588|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15489903|PMID:15541116|PMID:15548685|PMID:15564800|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:1562462|PMID:15630097|PMID:1565143|PMID:1565144|PMID:15654279|PMID:1569604|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15784129|PMID:1581912|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16209708|PMID:16229746|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16474844|PMID:16477330|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16534790|PMID:16543939|PMID:16551709|PMID:16596195|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17133269|PMID:17170001|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17627286|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17903248|PMID:17947339|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18348285|PMID:18348286|PMID:18391940|PMID:18393224|PMID:18414213|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18762572|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:19012332|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19165225|PMID:19171880|PMID:1918170|PMID:19224462|PMID:19336573|PMID:1933902|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19558493|PMID:19681600|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:1978757|PMID:19806023|PMID:19834951 12119451 TP53 tumor protein p53 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19958544|PMID:1999338|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20234365|PMID:20301488|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20575032|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21059199|PMID:21080251|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21878961|PMID:21904608|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22311583|PMID:22319594|PMID:22356895|PMID:22373952|PMID:22484423|PMID:22495821|PMID:22507745|PMID:22551440|PMID:22553421|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22733133|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22829111|PMID:22866089|PMID:22877736|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:22923433|PMID:22949826|PMID:22983585|PMID:23031740|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334666|PMID:23340422|PMID:23403321|PMID:23406775|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23863845|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24218030|PMID:24219989|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24373500|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24448499|PMID:24451277|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24835218|PMID:24835311|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25047674|PMID:25056374|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256751|PMID:25293557|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25422255|PMID:25433984|PMID:25452441|PMID:25460562|PMID:25490274|PMID:25503501|PMID:25512523|PMID:25516983 12119451 TP53 tumor protein p53 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 PMID:25525159|PMID:25527155|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25637381|PMID:25669829|PMID:25741868|PMID:25742471|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26024390|PMID:26029016|PMID:26086041|PMID:26094658|PMID:26200271|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26851285|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27147571|PMID:27153395|PMID:27157322|PMID:27179933|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27328919|PMID:27341992|PMID:27374712|PMID:27391063|PMID:27418648|PMID:27443514|PMID:27449771|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27741277|PMID:27785980|PMID:27844328|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27930734|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28202063|PMID:28230820|PMID:28234344|PMID:28255015|PMID:2826609|PMID:28279309|PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28772286|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29069792|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29263802|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29805046|PMID:29875428|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30262806|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30883245|PMID:30918304|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31159747|PMID:31206626|PMID:31212162|PMID:31278746|PMID:31296311|PMID:31321604|PMID:31365877|PMID:31462179|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31742824|PMID:31748977 12119451 TP53 tumor protein p53 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 PMID:31749828|PMID:31775759|PMID:31881331|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32475984|PMID:32504211|PMID:32555031|PMID:32566746|PMID:32658311|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32854451|PMID:32899294|PMID:32916163|PMID:32930885|PMID:33047316|PMID:33051313|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33758026|PMID:33818021|PMID:34095982|PMID:34198491|PMID:34240179|PMID:34299313|PMID:34308366|PMID:34390506|PMID:34452612|PMID:34529667|PMID:34539758|PMID:3471991|PMID:34739844|PMID:34805717|PMID:34906512|PMID:35886069|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7599045|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7731702|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8242752|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8352280|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8649785|PMID:8675009|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9067756|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9470817|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9764816|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965 12119451 TP53 tumor protein p53 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:70502 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 12119451 TP53 tumor protein p53 gene DOID:10283 prostate cancer ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer PMID:10864200|PMID:11222779|PMID:11315715|PMID:11420676|PMID:11429705|PMID:11494139|PMID:11782540|PMID:11793474|PMID:11896595|PMID:12826609|PMID:12917626|PMID:1467311|PMID:15004724|PMID:1565144|PMID:16489069|PMID:16818505|PMID:16827139|PMID:17576681|PMID:17606709|PMID:17724467|PMID:18511570|PMID:18685109|PMID:19556618|PMID:20128691|PMID:20407015|PMID:20505364|PMID:20693561|PMID:21232794|PMID:21343334|PMID:21348412|PMID:21519010|PMID:21535297|PMID:21552135|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23265383|PMID:24033266|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24641375|PMID:24651015|PMID:24677579|PMID:25157968|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25945745|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:27276561|PMID:27374712|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27523101|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28492532|PMID:28975465|PMID:29189820|PMID:29456621|PMID:29489754|PMID:29979965|PMID:30107858|PMID:30224644|PMID:30327374|PMID:31559875|PMID:32295079|PMID:7887414|PMID:7969167|PMID:8164043|PMID:8479749|PMID:9047394|PMID:9242456|PMID:9446663|PMID:9536098|PMID:9569050|PMID:9681828 12119451 TP53 tumor protein p53 gene DOID:10283 prostate cancer disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18225585|REF_RGD_ID:2290535 12119451 TP53 tumor protein p53 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15925506|PMID:15951970|PMID:15977174|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16682957|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:18307025|PMID:18511570|PMID:18685109|PMID:18937320|PMID:19101993|PMID:19147582|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20805372|PMID:20878954|PMID:21056685|PMID:21059199|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23263379|PMID:23265383|PMID:23538418|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26534844|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26781615|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28160093|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30322717|PMID:30327374|PMID:30583724|PMID:30630526|PMID:30816478|PMID:30840781|PMID:31105275|PMID:31119730|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32817165|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:34026625|PMID:34308366|PMID:34994652|PMID:36988593|PMID:7651740|PMID:7732013|PMID:7737263|PMID:7791795|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8718514|PMID:8825920|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9825943|PMID:9839505 12119451 TP53 tumor protein p53 gene DOID:10534 stomach cancer ISO RGD:70502 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11896595|PMID:12007217|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15121773|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15741269|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16033918|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18248785|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18628487|PMID:19101993|PMID:19127115|PMID:19378321|PMID:19556618|PMID:19717094|PMID:1978757|PMID:19877175|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20301488|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21187651|PMID:21192060|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23255406|PMID:23263379|PMID:23469205|PMID:23538418|PMID:23570263|PMID:23630318|PMID:23667202|PMID:23733769|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24810334|PMID:24835218|PMID:24884479|PMID:24936644|PMID:25157968|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26572807|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681051|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:27153395|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27621308|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28756477|PMID:28864397|PMID:28873162|PMID:28961258|PMID:28968711|PMID:28984303|PMID:29025599|PMID:29070607|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31775759|PMID:31882575|PMID:32000721|PMID:33372952|PMID:34095982|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9067756|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:10652 Alzheimer's disease ISO RGD:11440 D RGD:9068941 20200609 RGD PMID:17581637|REF_RGD_ID:2290573 12119451 TP53 tumor protein p53 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R72P(human) PMID:23049825|REF_RGD_ID:8547822 12119451 TP53 tumor protein p53 gene DOID:10763 hypertension ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 12119451 TP53 tumor protein p53 gene DOID:10811 nasal cavity cancer ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:19950227|REF_RGD_ID:8547762 12119451 TP53 tumor protein p53 gene DOID:10964 cholesteatoma of middle ear ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:tympanic membrane,skin: PMID:9455944|REF_RGD_ID:8547787 12119451 TP53 tumor protein p53 gene DOID:11054 urinary bladder cancer ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11376694|PMID:12706858 12119451 TP53 tumor protein p53 gene DOID:11054 urinary bladder cancer ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376482|PMID:15906354|PMID:22929185|PMID:29644616|PMID:9610789 12119451 TP53 tumor protein p53 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:18208803|REF_RGD_ID:2290536 12119451 TP53 tumor protein p53 gene DOID:1107 esophageal carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:10229196|PMID:10411893|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993 12119451 TP53 tumor protein p53 gene DOID:1107 esophageal carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28271309|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33635883|PMID:33758026|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9979965 12119451 TP53 tumor protein p53 gene DOID:1115 sarcoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:12826609|PMID:15004724|PMID:15381368|PMID:1565143|PMID:15722483|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17606709|PMID:18511570|PMID:19556618|PMID:1978757|PMID:20113312|PMID:20128691|PMID:20407015|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24810334|PMID:25157968|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26822237|PMID:26845104|PMID:27146902|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28492532|PMID:28664506|PMID:28861920|PMID:29300620|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31321604|PMID:31775759|PMID:32000721|PMID:33372952|PMID:33471991|PMID:36988593|PMID:7887414|PMID:8062826|PMID:9242456|PMID:9546439|PMID:9569050 12119451 TP53 tumor protein p53 gene DOID:1115 sarcoma onset ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:21854749|REF_RGD_ID:11075090 12119451 TP53 tumor protein p53 gene DOID:1115 sarcoma treatment ISO RGD:70502 D RGD:9068941 20220303 RGD PMID:31089155|REF_RGD_ID:151660332 12119451 TP53 tumor protein p53 gene DOID:11198 DiGeorge syndrome ISO RGD:1317101 D RGD:9068941 20221103 RGD PMID:25197075|REF_RGD_ID:155641238 12119451 TP53 tumor protein p53 gene DOID:1123 spondyloarthropathy ISO RGD:1615620 D RGD:9068941 20200609 RGD PMID:29494633|REF_RGD_ID:14995936 12119451 TP53 tumor protein p53 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:26431790|REF_RGD_ID:11537057 12119451 TP53 tumor protein p53 gene DOID:11934 head and neck cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Head and neck neoplasm PMID:20522432|PMID:23255406|PMID:24382691|PMID:25157968|PMID:25741868|PMID:26225655|PMID:27726232|PMID:28492532|PMID:28873162|PMID:30107858|PMID:31775759|PMID:36988593|PMID:9067756 12119451 TP53 tumor protein p53 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22000973 12119451 TP53 tumor protein p53 gene DOID:12177 common variable immunodeficiency ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12119451 TP53 tumor protein p53 gene DOID:12336 male infertility ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22773013 12119451 TP53 tumor protein p53 gene DOID:12361 Graves' disease susceptibility ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.p.R72P(human) PMID:17980001|REF_RGD_ID:8547807 12119451 TP53 tumor protein p53 gene DOID:1240 leukemia disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow: PMID:26524016|REF_RGD_ID:11073730 12119451 TP53 tumor protein p53 gene DOID:12450 pancytopenia ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pancytopenia PMID:11051239|PMID:11782540|PMID:12826609|PMID:1631137|PMID:16489069|PMID:16818505|PMID:17417627|PMID:17427234|PMID:17606709|PMID:19378321|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20522432|PMID:21059199|PMID:21343334|PMID:21519010|PMID:21601526|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:23172776|PMID:23246812|PMID:23667202|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29979965|PMID:30224644|PMID:30327374|PMID:31775759|PMID:36988593|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9242456|PMID:9598730|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:12930 dilated cardiomyopathy ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:26004897|REF_RGD_ID:13782348 12119451 TP53 tumor protein p53 gene DOID:1324 lung cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic PMID:10432928|PMID:10519380|PMID:10589545|PMID:10922393|PMID:11370630|PMID:11429705|PMID:11593407|PMID:11782540|PMID:11793474|PMID:12124823|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15037740|PMID:15138567|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16312222|PMID:16401470|PMID:16494995|PMID:16551709|PMID:16778209|PMID:16818505|PMID:16827139|PMID:16861262|PMID:17015838|PMID:17311302|PMID:17606709|PMID:17724467|PMID:17875924|PMID:18307025|PMID:18511570|PMID:18555592|PMID:19101993|PMID:19556618|PMID:19850740|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20522432|PMID:20805372|PMID:21113594|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22198284|PMID:22319594|PMID:22427690|PMID:22710932|PMID:22915647|PMID:22923379|PMID:22983585|PMID:23165212|PMID:23175693|PMID:23246812|PMID:23265383|PMID:23538418|PMID:23630318|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24641375|PMID:24651015|PMID:24702488|PMID:24835218|PMID:25157968|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26070072|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26723900|PMID:26786923|PMID:27276561|PMID:27463065|PMID:27523101|PMID:27621308|PMID:27680515|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28492532|PMID:29070607|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30630526|PMID:30730202|PMID:30816478|PMID:32000721|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:8023157|PMID:8118819|PMID:8550239|PMID:8718514|PMID:9096669|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9635828|PMID:9662334|PMID:9667734 12119451 TP53 tumor protein p53 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:25741868|PMID:28492532|PMID:30146126 12119451 TP53 tumor protein p53 gene DOID:1350 paranasal sinus benign neoplasm ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:22575263|REF_RGD_ID:8547763 12119451 TP53 tumor protein p53 gene DOID:1350 paranasal sinus benign neoplasm treatment ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:23369851|REF_RGD_ID:8547764 12119451 TP53 tumor protein p53 gene DOID:13544 low tension glaucoma susceptibility ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R72P(rs1042522)(human) PMID:20357201|REF_RGD_ID:7387247 12119451 TP53 tumor protein p53 gene DOID:13677 SAPHO syndrome ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19779722 12119451 TP53 tumor protein p53 gene DOID:1380 endometrial cancer ISO RGD:11440 D RGD:9068941 20220825 MouseDO OMIM:608089 12119451 TP53 tumor protein p53 gene DOID:14566 disease of cellular proliferation ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neoplasms PMID:10411893|PMID:10519380|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11315715|PMID:11370630|PMID:11479205|PMID:11494139|PMID:11782540|PMID:11793474|PMID:11896595|PMID:12007217|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:19127115|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20516128|PMID:20522432|PMID:20689556|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23263379|PMID:23265383|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:7969167|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9667734|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:14566 disease of cellular proliferation ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neoplasms PMID:10411893|PMID:10519380|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11315715|PMID:11370630|PMID:11479205|PMID:11494139|PMID:11782540|PMID:11793474|PMID:11896595|PMID:12007217|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:19127115|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20689556|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23263379|PMID:23265383|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:33372952|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:7969167|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9667734|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:14566 disease of cellular proliferation ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neoplasms PMID:10411893|PMID:10519380|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11315715|PMID:11370630|PMID:11479205|PMID:11494139|PMID:11782540|PMID:11793474|PMID:11896595|PMID:12007217|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19127115|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20689556|PMID:20693561|PMID:21059199|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23263379|PMID:23265383|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31559875|PMID:31775759|PMID:31882575|PMID:32000721|PMID:33372952|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:7969167|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9667734|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:14566 disease of cellular proliferation onset ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:22917926|REF_RGD_ID:11075077 12119451 TP53 tumor protein p53 gene DOID:1520 colon carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:11920959|PMID:12826609|PMID:15004724|PMID:15381368|PMID:1565143|PMID:15722483|PMID:15825182|PMID:16489069|PMID:16596195|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17311302|PMID:17606709|PMID:18511570|PMID:19556618|PMID:1978757|PMID:20113312|PMID:20128691|PMID:20407015|PMID:21187651|PMID:21288114|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21747090|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22915647|PMID:22919068|PMID:23161690|PMID:23246812|PMID:23538418|PMID:23894400|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24810334|PMID:24952744|PMID:25157968|PMID:25525159|PMID:25741868|PMID:25896519|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27463065|PMID:27493922|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28234344|PMID:28369373|PMID:28492532|PMID:29056573|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31775759|PMID:32000721|PMID:33372952|PMID:36988593|PMID:7887414|PMID:8062826|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050 12119451 TP53 tumor protein p53 gene DOID:161 keratosis ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16930632|PMID:28785074 12119451 TP53 tumor protein p53 gene DOID:1612 breast cancer ISO RGD:70502 D RGD:7240710 20180711 OMIM 12119451 TP53 tumor protein p53 gene DOID:1612 breast cancer ISO RGD:70502 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10408787|PMID:10435620|PMID:10606817|PMID:10713666|PMID:10864200|PMID:10922393|PMID:11040944|PMID:11222779|PMID:11391594|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12170762|PMID:12610779|PMID:12672316|PMID:12726864|PMID:12759621|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1394133|PMID:14612556|PMID:14639659|PMID:15161705|PMID:15173255|PMID:15192123|PMID:1537617|PMID:15390294|PMID:15541116|PMID:15580553|PMID:1562462|PMID:1565144|PMID:15659650|PMID:15756275|PMID:15851479|PMID:15951970|PMID:15964795|PMID:15982667|PMID:16229746|PMID:16401470|PMID:16489069|PMID:16596195|PMID:16644204|PMID:1673792|PMID:16818505|PMID:16861262|PMID:1686725|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17311302|PMID:17436385|PMID:17540308|PMID:17541742|PMID:17606709|PMID:17636407|PMID:17727479|PMID:18199664|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19367569|PMID:19416725|PMID:19523860|PMID:19671856|PMID:19714488|PMID:19913028|PMID:19933256|PMID:20118236|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20443084|PMID:20449797|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20972454|PMID:21153778|PMID:21232794|PMID:21288114|PMID:21343334|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21552135|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22186996|PMID:22228431|PMID:22356895|PMID:22652532|PMID:22710932|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23469205|PMID:23484829|PMID:23580068|PMID:23625637|PMID:23894400|PMID:24033266|PMID:24076587|PMID:24113472|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24590827|PMID:24641375|PMID:24677579|PMID:24728327|PMID:24729566|PMID:24803582|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24952744|PMID:25034526|PMID:25157968|PMID:25169539|PMID:25339039|PMID:25365311|PMID:25503501|PMID:25527155|PMID:25564201|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27210295|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27484708|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27978560|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28202063|PMID:28234344|PMID:28453743|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28772286|PMID:28843361|PMID:28861920|PMID:28873162|PMID:29056573|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29489754|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29979965|PMID:30224644|PMID:30240537|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30675318|PMID:30709875|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31159747|PMID:31278746|PMID:31296311|PMID:31422574|PMID:31749828|PMID:32000721|PMID:32504211|PMID:32566746|PMID:32885271|PMID:33051313|PMID:33178583|PMID:33257846|PMID:33372952|PMID:33471991|PMID:33580201|PMID:7732013|PMID:7881428|PMID:8198984|PMID:8203469|PMID:8352280|PMID:8364550|PMID:8423216|PMID:8633021|PMID:8710380|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9667734|PMID:9865903 12119451 TP53 tumor protein p53 gene DOID:1612 breast cancer ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10408787|PMID:10435620|PMID:10606817|PMID:10713666|PMID:10864200|PMID:10922393|PMID:11040944|PMID:11222779|PMID:11391594|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12170762|PMID:12610779|PMID:12672316|PMID:12726864|PMID:12759621|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1394133|PMID:14612556|PMID:14639659|PMID:15161705|PMID:15173255|PMID:1537617|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:1562462|PMID:1565144|PMID:15659650|PMID:15756275|PMID:15851479|PMID:15951970|PMID:15964795|PMID:15982667|PMID:16229746|PMID:16401470|PMID:16489069|PMID:16596195|PMID:16644204|PMID:1673792|PMID:16818505|PMID:16861262|PMID:1686725|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17311302|PMID:17436385|PMID:17540308|PMID:17541742|PMID:17606709|PMID:17636407|PMID:17727479|PMID:18199664|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19367569|PMID:19416725|PMID:19523860|PMID:19671856|PMID:19714488|PMID:19913028|PMID:19933256|PMID:20118236|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20443084|PMID:20449797|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20972454|PMID:21153778|PMID:21232794|PMID:21288114|PMID:21343334|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21552135|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22186996|PMID:22228431|PMID:22356895|PMID:22652532|PMID:22710932|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23469205|PMID:23484829|PMID:23580068|PMID:23625637|PMID:23894400|PMID:24033266|PMID:24076587|PMID:24113472|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24590827|PMID:24641375|PMID:24677579|PMID:24728327|PMID:24729566|PMID:24803582|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24952744|PMID:25034526|PMID:25157968|PMID:25169539|PMID:25339039|PMID:25365311|PMID:25503501|PMID:25527155|PMID:25564201|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27210295|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27484708|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27978560|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28202063|PMID:28234344|PMID:28453743|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28772286|PMID:28843361|PMID:28861920|PMID:28873162|PMID:29056573|PMID:29077256|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29489754|PMID:29752822|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29979965|PMID:30224644|PMID:30240537|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709875|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31159747|PMID:31278746|PMID:31296311|PMID:31422574|PMID:31749828|PMID:31882575|PMID:32000721|PMID:32504211|PMID:32566746|PMID:32885271|PMID:33051313|PMID:33178583|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33580201|PMID:35050731|PMID:7732013|PMID:7881428|PMID:8198984|PMID:8203469|PMID:8352280|PMID:8364550|PMID:8423216|PMID:8710380|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9667734|PMID:9865903 12119451 TP53 tumor protein p53 gene DOID:1612 breast cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10408787|PMID:10435620|PMID:10606817|PMID:10713666|PMID:10864200|PMID:10922393|PMID:11040944|PMID:11222779|PMID:11391594|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12170762|PMID:12610779|PMID:12672316|PMID:12726864|PMID:12759621|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1394133|PMID:14612556|PMID:14639659|PMID:15161705|PMID:15173255|PMID:1537617|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:1562462|PMID:1565144|PMID:15659650|PMID:15756275|PMID:15851479|PMID:15951970|PMID:15964795|PMID:15982667|PMID:16229746|PMID:16401470|PMID:16489069|PMID:16596195|PMID:16644204|PMID:1673792|PMID:16818505|PMID:16861262|PMID:1686725|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17311302|PMID:17436385|PMID:17540308|PMID:17541742|PMID:17606709|PMID:17636407|PMID:17727479|PMID:18199664|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19367569|PMID:19416725|PMID:19523860|PMID:19671856|PMID:19714488|PMID:19913028|PMID:19933256|PMID:20118236|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20443084|PMID:20449797|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20972454|PMID:21153778|PMID:21232794|PMID:21288114|PMID:21343334|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21552135|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22186996|PMID:22228431|PMID:22356895|PMID:22652532|PMID:22710932|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23469205|PMID:23484829|PMID:23580068|PMID:23625637|PMID:23894400|PMID:24033266|PMID:24076587|PMID:24113472|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24590827|PMID:24641375|PMID:24677579|PMID:24728327|PMID:24729566|PMID:24803582|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24952744|PMID:25034526|PMID:25157968|PMID:25169539|PMID:25339039|PMID:25365311|PMID:25503501|PMID:25527155|PMID:25564201|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27210295|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27484708|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28202063|PMID:28234344|PMID:28453743|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28772286|PMID:28843361|PMID:28861920|PMID:28873162|PMID:29056573|PMID:29077256|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29489754|PMID:29752822|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29979965|PMID:30224644|PMID:30240537|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709875|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31159747|PMID:31278746|PMID:31296311|PMID:31422574|PMID:31749828|PMID:31882575|PMID:32000721|PMID:32318955|PMID:32504211|PMID:32566746|PMID:32885271|PMID:33051313|PMID:33178583|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33471991|PMID:33580201|PMID:35050731|PMID:36988593|PMID:7732013|PMID:7881428|PMID:8198984|PMID:8203469|PMID:8352280|PMID:8364550|PMID:8423216|PMID:8710380|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9667734|PMID:9865903 12119451 TP53 tumor protein p53 gene DOID:1749 squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:10557074|PMID:10713666|PMID:10754498|PMID:11590071|PMID:11793474|PMID:12779080|PMID:12826609|PMID:15037740|PMID:15077194|PMID:15161705|PMID:15308588|PMID:15564800|PMID:1672732|PMID:16778209|PMID:16861262|PMID:18555592|PMID:21561095|PMID:25741868|PMID:26580448|PMID:26619011|PMID:27993330|PMID:28492532|PMID:29070607|PMID:29785153|PMID:29979965|PMID:30224644|PMID:30720243|PMID:30840781|PMID:31159747|PMID:32899294|PMID:9472631|PMID:9572492 12119451 TP53 tumor protein p53 gene DOID:1790 malignant mesothelioma ISO RGD:70502 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 12119451 TP53 tumor protein p53 gene DOID:1793 pancreatic cancer ISO RGD:11440 D RGD:9068941 20230506 CTD CTD Direct Evidence: marker/mechanism PMID:23873029|PMID:26390243 12119451 TP53 tumor protein p53 gene DOID:1793 pancreatic cancer ISO RGD:70502 D RGD:9068941 20230506 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 12119451 TP53 tumor protein p53 gene DOID:1793 pancreatic cancer ISO RGD:70502 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 12119451 TP53 tumor protein p53 gene DOID:182 calcinosis ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29358327 12119451 TP53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:2113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22540896|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22844452|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23315175|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24395441|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24766216|PMID:24810334|PMID:25123297|PMID:25157968|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27911860|PMID:27959731|PMID:28135145|PMID:28152038|PMID:2826609|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053 12119451 TP53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30297838|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31775759|PMID:32000721|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19468865|PMID:19556618|PMID:1978757|PMID:19834951|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23315175|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24395441|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25123297|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27523101|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29126202|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243 12119451 TP53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31775759|PMID:32000721|PMID:32475984|PMID:33372952|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19468865|PMID:19556618|PMID:1978757|PMID:19834951|PMID:19913028|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27523101|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350 12119451 TP53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32475984|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33372952|PMID:33758026|PMID:34026625|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27911860|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053 12119451 TP53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33332384|PMID:33372952|PMID:33758026|PMID:34026625|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27911860|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532 12119451 TP53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33332384|PMID:33372952|PMID:33758026|PMID:34026625|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant Melanoma Susceptibility | ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496 12119451 TP53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant Melanoma Susceptibility | ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:34805717|PMID:35938033|PMID:36988593|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:1936 atherosclerosis ameliorates ISO RGD:11440 D RGD:9068941 20230330 RGD PMID:31757932|REF_RGD_ID:242905202 12119451 TP53 tumor protein p53 gene DOID:2129 atypical teratoid rhabdoid tumor ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor PMID:10519380|PMID:10922393|PMID:11370630|PMID:11782540|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:16401470|PMID:16494995|PMID:16551709|PMID:16818505|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18511570|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22915647|PMID:23246812|PMID:23538418|PMID:24033266|PMID:24122735|PMID:24835218|PMID:25157968|PMID:25741868|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26585234|PMID:26619011|PMID:26786923|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28492532|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30816478|PMID:32000721|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:8550239|PMID:8718514|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9667734 12119451 TP53 tumor protein p53 gene DOID:2154 nephroblastoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 12119451 TP53 tumor protein p53 gene DOID:2316 brain ischemia ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19095966 12119451 TP53 tumor protein p53 gene DOID:2394 ovarian cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer PMID:10435620|PMID:10519380|PMID:10922393|PMID:11370630|PMID:11782540|PMID:11793474|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16551709|PMID:16818505|PMID:17015838|PMID:17311302|PMID:17541742|PMID:17606709|PMID:18511570|PMID:18555592|PMID:19468865|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:21343334|PMID:21519010|PMID:21601526|PMID:21761402|PMID:22186996|PMID:22811390|PMID:22915647|PMID:23246812|PMID:23538418|PMID:24033266|PMID:24076587|PMID:24122735|PMID:24835218|PMID:25157968|PMID:25637381|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26086041|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26786923|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28369373|PMID:28472496|PMID:28492532|PMID:29070607|PMID:29300620|PMID:29365323|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:32000721|PMID:33300245|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:8550239|PMID:8718514|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9572492|PMID:9667734 12119451 TP53 tumor protein p53 gene DOID:2513 basal cell carcinoma ISO RGD:70502 D RGD:7240710 20180130 OMIM 12119451 TP53 tumor protein p53 gene DOID:2513 basal cell carcinoma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:21946351|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22729912|PMID:22744426|PMID:22800615|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23515929|PMID:23538418|PMID:23571737|PMID:23624782|PMID:23630318|PMID:23742673|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25422255|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25907361|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26911350|PMID:27147571|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:2513 basal cell carcinoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:21946351|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22729912|PMID:22744426|PMID:22800615|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23515929|PMID:23538418|PMID:23571737|PMID:23624782|PMID:23630318|PMID:23742673|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25422255|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25907361|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26911350|PMID:27147571|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:2513 basal cell carcinoma ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:21946351|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22729912|PMID:22744426|PMID:22800615|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23515929|PMID:23538418|PMID:23571737|PMID:23624782|PMID:23630318|PMID:23742673|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25422255|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25907361|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26911350|PMID:27147571|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:2513 basal cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:21946351|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22729912|PMID:22744426|PMID:22800615|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23515929|PMID:23538418|PMID:23571737|PMID:23624782|PMID:23630318|PMID:23742673|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25422255|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25907361|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26911350|PMID:27147571|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:2526 prostate adenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate | ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16736287|PMID:16741917|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17541742|PMID:17606709|PMID:17636407|PMID:17724467|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:19012332|PMID:19101993|PMID:19171880|PMID:1918170|PMID:19367569|PMID:19378321|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25339994|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25619955|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27077130|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30630526|PMID:30675318|PMID:30720243|PMID:30816478 12119451 TP53 tumor protein p53 gene DOID:2526 prostate adenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate | ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:30840781|PMID:31050713|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32817165|PMID:32885271|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7750099|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:2531 hematologic cancer ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:missense mutation::p.R337H (human) PMID:28387921|REF_RGD_ID:14995484 12119451 TP53 tumor protein p53 gene DOID:2626 choroid plexus papilloma ISO RGD:70502 D RGD:7240710 20180130 OMIM 12119451 TP53 tumor protein p53 gene DOID:2626 choroid plexus papilloma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Choroid plexus papilloma | ClinVar Annotator: match by term: Papilloma of choroid plexus PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12085209|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:2671 transitional cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:10064694|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16736287|PMID:1673792|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22484423|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334668|PMID:23406775|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27276934 12119451 TP53 tumor protein p53 gene DOID:2671 transitional cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505 12119451 TP53 tumor protein p53 gene DOID:2729 dyskeratosis congenita ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:17683073|PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:24033266|PMID:25741868|PMID:28492532 12119451 TP53 tumor protein p53 gene DOID:2870 endometrial adenocarcinoma ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:missense mutations PMID:1540970|REF_RGD_ID:2290541 12119451 TP53 tumor protein p53 gene DOID:2870 endometrial adenocarcinoma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:1540970|REF_RGD_ID:2290541 12119451 TP53 tumor protein p53 gene DOID:2871 endometrial carcinoma ISO RGD:70502 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25741868|PMID:28492532 12119451 TP53 tumor protein p53 gene DOID:2871 endometrial carcinoma severity ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:epithelial cell, endometrium PMID:18431720|REF_RGD_ID:2298525 12119451 TP53 tumor protein p53 gene DOID:299 adenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma PMID:10519380|PMID:10922393|PMID:11370630|PMID:11782540|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:16401470|PMID:16494995|PMID:16551709|PMID:16818505|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18511570|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22915647|PMID:23246812|PMID:23538418|PMID:24033266|PMID:24122735|PMID:24835218|PMID:25157968|PMID:25741868|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26585234|PMID:26619011|PMID:26786923|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28492532|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30816478|PMID:32000721|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:8550239|PMID:8718514|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9667734 12119451 TP53 tumor protein p53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni PMID:10064694|PMID:10206274|PMID:10207667|PMID:10229196|PMID:10329187|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10449408|PMID:10477429|PMID:10486243|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10606817|PMID:10616528|PMID:10653977|PMID:10654936|PMID:10697617|PMID:10706125|PMID:10713666|PMID:10719737|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10777217|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10901165|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11124955|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11229518|PMID:11263856|PMID:11285227|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11403041|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11453810|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11518751|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668476|PMID:11668501|PMID:11715068|PMID:11753428|PMID:11756653|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12067251|PMID:12070601|PMID:12076704|PMID:12124823|PMID:12170762|PMID:12209975|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12716906|PMID:12726864|PMID:12759621|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:1394133|PMID:14559903|PMID:14584079|PMID:14587098|PMID:14612556|PMID:14639659|PMID:14656244|PMID:14670539|PMID:14673037|PMID:1467311|PMID:14965603|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15060172|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15221755|PMID:15308588|PMID:15342977|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15469940|PMID:15489903|PMID:15541116|PMID:15548685|PMID:15564800|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:15611070|PMID:15611505|PMID:1562462|PMID:15630097|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15781632|PMID:15784129|PMID:1581912|PMID:15825182|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16204849|PMID:16209708|PMID:16229746|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16333835|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16477330|PMID:16487937|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16522644|PMID:16534790|PMID:16543939|PMID:16551709|PMID:16596195|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:16723121|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17133269|PMID:17170001|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17401432|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17875924|PMID:17903248|PMID:17947339|PMID:17982662|PMID:18037961|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18307025 12119451 TP53 tumor protein p53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni PMID:18348285|PMID:18348286|PMID:18391940|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18477611|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18563462|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18762572|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19165225|PMID:19171880|PMID:1918170|PMID:19224462|PMID:19250386|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19558493|PMID:19558684|PMID:19671856|PMID:19681600|PMID:19701813|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:19763152|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:19958544|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20030809|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20234365|PMID:20301488|PMID:20307669|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056402|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21339461|PMID:21343334|PMID:2134334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21878961|PMID:21900752|PMID:21904608|PMID:21934104|PMID:21953469|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22267198|PMID:22319594|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22387016|PMID:22406018|PMID:22427690|PMID:22484423|PMID:22495821|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22553421|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22811390|PMID:22829111|PMID:22862161|PMID:22866089|PMID:22877736|PMID:22878818|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22949826|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23406775|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23580068|PMID:23612572|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23639785|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828 12119451 TP53 tumor protein p53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni PMID:23733769|PMID:23792586|PMID:23863845|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24219989|PMID:24224046|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24373500|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24448499|PMID:24451277|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24733378|PMID:24744791|PMID:24763289|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24835218|PMID:24835311|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:24940547|PMID:24952744|PMID:25034526|PMID:25047674|PMID:25056374|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256751|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25318593|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:25374282|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25460562|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25730903|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25762628|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25877891|PMID:25881545|PMID:25886176|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26029016|PMID:26066407|PMID:26070072|PMID:26086041|PMID:26094658|PMID:26181206|PMID:26200271|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26723900|PMID:26743472|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26837699|PMID:26845104|PMID:26851285|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27149858|PMID:27153395|PMID:27157322|PMID:27179933|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27328919|PMID:27341992|PMID:27374712|PMID:27391063|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27484708|PMID:27489289|PMID:27493922|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27642012|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27741277|PMID:27785980|PMID:27834926|PMID:27844328|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27930734|PMID:27959731|PMID:27978560|PMID:27993330|PMID:2802540|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:2826609|PMID:28271309|PMID:28279309|PMID:28288110 12119451 TP53 tumor protein p53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28772286|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28826481|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961258|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29069792|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29189820|PMID:29225734|PMID:29247016|PMID:29263802|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29652801|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29805046|PMID:29844874|PMID:29847298|PMID:29875428|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30154229|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:3022464|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30262806|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30348990|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30883245|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31212162|PMID:31265190|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31365877|PMID:31422574|PMID:31462179|PMID:31494577|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31742824|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32029870|PMID:32164171|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32566746|PMID:32658311|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32854451|PMID:32885271|PMID:32899294|PMID:32916163|PMID:32930885|PMID:32994724|PMID:33047316|PMID:33051313|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33230179|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33635883|PMID:33758026|PMID:33818021|PMID:34026625|PMID:34198491|PMID:34240179|PMID:34264394|PMID:34299313|PMID:34308366|PMID:34390506|PMID:34452612|PMID:34504096|PMID:34529667|PMID:34539758|PMID:3471991|PMID:34739844|PMID:34805717|PMID:34906512|PMID:34994652|PMID:35050731|PMID:35886069|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7599045|PMID:7651740|PMID:7664239|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7731702|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7936651|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8352280 12119451 TP53 tumor protein p53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni PMID:8364550|PMID:8378080|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479743|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8649785|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8756654|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9399658|PMID:9405613|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9467949|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9723024|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965 12119451 TP53 tumor protein p53 gene DOID:3021 acute kidney failure ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20603111 12119451 TP53 tumor protein p53 gene DOID:305 carcinoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17450239|PMID:9626339 12119451 TP53 tumor protein p53 gene DOID:3052 Balkan nephropathy ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22071594 12119451 TP53 tumor protein p53 gene DOID:3068 glioblastoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic PMID:10064694|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:16199549|PMID:16209708|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18391940|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19681600|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19850740|PMID:19881536|PMID:19913028|PMID:19930417|PMID:1999338|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20364130|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20589832|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25516983|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356 12119451 TP53 tumor protein p53 gene DOID:3068 glioblastoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681312|PMID:26718964|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27153395|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27374712|PMID:27463065|PMID:27493922|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31494577|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32475984|PMID:32658383|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33332384|PMID:33372952|PMID:33471991|PMID:34026625|PMID:34299313|PMID:34308366|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7783166|PMID:7791795|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8336941|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:3069 malignant astrocytoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant astrocytoma PMID:10519380|PMID:10922393|PMID:11370630|PMID:11782540|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:16401470|PMID:16494995|PMID:16551709|PMID:16818505|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18511570|PMID:19012332|PMID:19468865|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:21059199|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22672556|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24033266|PMID:24122735|PMID:24573247|PMID:24835218|PMID:25157968|PMID:25186627|PMID:25584008|PMID:25619955|PMID:25741868|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26585234|PMID:26619011|PMID:26786923|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27077130|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28975465|PMID:29581140|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30816478|PMID:32000721|PMID:32475984|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:8401536|PMID:8550239|PMID:8718514|PMID:8829627|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9667734 12119451 TP53 tumor protein p53 gene DOID:3069 malignant astrocytoma susceptibility ISO RGD:1550157 D RGD:9068941 20200609 RGD DNA:nonsense mutation:cds: PMID:24038521|REF_RGD_ID:13702858 12119451 TP53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:7240710 20230505 OMIM 12119451 TP53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:10229196|PMID:10411893|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:14559903|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:1581912|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20471942|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:21056685|PMID:21059199|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:2259385|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23406775|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27533082|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28152038|PMID:2826609|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28476805|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30297838|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31300551|PMID:31775759|PMID:32000721|PMID:32295079|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8242631|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8756654|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631 12119451 TP53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9667734|PMID:9681828|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Malignant glioma PMID:10229196|PMID:10411893|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17576681|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:21056685|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:2259385|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31300551|PMID:31775759|PMID:32000721|PMID:32295079|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8242631|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9667734|PMID:9681828|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:10229196|PMID:10411893|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17576681|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:21056685|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22484423|PMID:2259385|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24224046|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25525159|PMID:25533637|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31300551|PMID:31775759|PMID:32000721|PMID:32295079|PMID:33372952|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8242631|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9667734|PMID:9681828 12119451 TP53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9 PMID:10229196|PMID:10411893|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17576681|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:21056685|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22484423|PMID:2259385|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24224046|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25525159|PMID:25533637|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8242631|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015 12119451 TP53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9 PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9667734|PMID:9681828|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3 PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19101993|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22484423|PMID:2259385|PMID:22698404|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23887774|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24224046|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25516983|PMID:25525159|PMID:25533637|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374 12119451 TP53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3 PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31300551|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32658383|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:34299313|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9825943|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:28975465|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31300551|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:34299313|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8756654|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9825943|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:14559903|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19101993|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20471942|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22484423|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23887774|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24224046|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25516983|PMID:25525159|PMID:25533637|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162 12119451 TP53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:28975465|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31300551|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:34299313|PMID:35938033|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8756654|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9825943|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:3078 anaplastic astrocytoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Astrocytoma, anaplastic PMID:10519380|PMID:10922393|PMID:11370630|PMID:11782540|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:16401470|PMID:16494995|PMID:16551709|PMID:16818505|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18511570|PMID:19012332|PMID:19468865|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:21059199|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22672556|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24033266|PMID:24122735|PMID:24573247|PMID:24835218|PMID:25157968|PMID:25186627|PMID:25584008|PMID:25619955|PMID:25741868|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26585234|PMID:26619011|PMID:26786923|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27077130|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28975465|PMID:29581140|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30816478|PMID:32000721|PMID:32475984|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:8401536|PMID:8550239|PMID:8718514|PMID:8829627|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9667734 12119451 TP53 tumor protein p53 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17274270 12119451 TP53 tumor protein p53 gene DOID:3114 serous cystadenocarcinoma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:16012716|REF_RGD_ID:8662305 12119451 TP53 tumor protein p53 gene DOID:3121 gallbladder cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gallbladder cancer PMID:11051239|PMID:11370630|PMID:11782540|PMID:12406399|PMID:12506399|PMID:12826609|PMID:14673037|PMID:15925506|PMID:15993273|PMID:16199547|PMID:1631137|PMID:16489069|PMID:16818505|PMID:16861262|PMID:16969106|PMID:17417627|PMID:17427234|PMID:17567834|PMID:17606709|PMID:18978813|PMID:19378321|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20436704|PMID:20522432|PMID:21059199|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21601526|PMID:21665182|PMID:21761402|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:23172776|PMID:23246812|PMID:23484829|PMID:23667202|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24382691|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25516983|PMID:25544776|PMID:25587027|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26718964|PMID:26787237|PMID:26911350|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28160093|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28975465|PMID:29025599|PMID:29752822|PMID:29979965|PMID:30224644|PMID:30322717|PMID:30327374|PMID:30720243|PMID:31105275|PMID:31742824|PMID:31775759|PMID:32817165|PMID:33471991|PMID:36988593|PMID:8099841|PMID:8425176|PMID:8527048|PMID:8688334|PMID:9242456|PMID:9598730|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:3213 demyelinating disease ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18550754 12119451 TP53 tumor protein p53 gene DOID:3247 rhabdomyosarcoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10229196|PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519384|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10864200|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11420676|PMID:11479205|PMID:11782540|PMID:11896595|PMID:11920959|PMID:12610779|PMID:12672316|PMID:12826609|PMID:1467311|PMID:15004724|PMID:15381368|PMID:15390294|PMID:15580553|PMID:15607980|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15951970|PMID:16199547|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16682957|PMID:1673792|PMID:16818505|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17308077|PMID:17311302|PMID:17318340|PMID:17540308|PMID:17576681|PMID:17606709|PMID:17636407|PMID:18511570|PMID:18628487|PMID:18685109|PMID:19367569|PMID:19556618|PMID:1978757|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20455025|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22170717|PMID:22186996|PMID:22319594|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23175693|PMID:23246812|PMID:23538418|PMID:23625637|PMID:23894400|PMID:24033266|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24728327|PMID:24764719|PMID:24810334|PMID:25157968|PMID:25326637|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26086041|PMID:26206375|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681312|PMID:26818906|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28861920|PMID:28873162|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30816478|PMID:31016814|PMID:31105275|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:33300245|PMID:33372952|PMID:36988593|PMID:7706467|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8062826|PMID:8364550|PMID:8423216|PMID:8633021|PMID:9067756|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9681828 12119451 TP53 tumor protein p53 gene DOID:326 ischemia ISO RGD:3889 D RGD:9068941 20200609 RGD associated with Wounds and Injuries;protein:increased expression:skin PMID:18337831|REF_RGD_ID:2290551 12119451 TP53 tumor protein p53 gene DOID:326 ischemia ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15172883 12119451 TP53 tumor protein p53 gene DOID:3275 thymoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24974848 12119451 TP53 tumor protein p53 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17434459 12119451 TP53 tumor protein p53 gene DOID:3347 osteosarcoma ISO RGD:70502 D RGD:7240710 20180130 OMIM 12119451 TP53 tumor protein p53 gene DOID:3347 osteosarcoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Osteosarcoma, somatic PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:3376 bone osteosarcoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12085209|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:3393 coronary artery disease ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:misssense mutation: :p.R72P (rs1042522) (human) PMID:29482350|REF_RGD_ID:14995930 12119451 TP53 tumor protein p53 gene DOID:3407 carotid artery disease ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16973168 12119451 TP53 tumor protein p53 gene DOID:3458 breast adenocarcinoma ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast adenocarcinoma, somatic PMID:10713666|PMID:11479205|PMID:11896595|PMID:11920959|PMID:12826609|PMID:1673792|PMID:16861262|PMID:1686725|PMID:17606709|PMID:20128691|PMID:20522432|PMID:21343334|PMID:23625637|PMID:25503501|PMID:25584008|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29324801|PMID:29470806|PMID:29752822|PMID:29979965|PMID:30224644|PMID:30630526|PMID:33372952|PMID:7881428|PMID:8364550 12119451 TP53 tumor protein p53 gene DOID:3459 breast carcinoma ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10922393|PMID:11139324|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15381368|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199547|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18307025|PMID:18511570|PMID:19101993|PMID:19147582|PMID:19556618|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:20805372|PMID:21159183|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22915647|PMID:22923379|PMID:23161690|PMID:23246812|PMID:23409989|PMID:23538418|PMID:23630318|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24702488|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25564201|PMID:25741868|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681682|PMID:26786923|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28369373|PMID:28492532|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:32658383|PMID:33372952|PMID:4122735|PMID:7565304|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8550239|PMID:8718514|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9662334|PMID:9667734 12119451 TP53 tumor protein p53 gene DOID:3459 breast carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10922393|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12826609|PMID:12885464|PMID:12917626|PMID:14584079|PMID:15004724|PMID:15037740|PMID:15381368|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199547|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18307025|PMID:18511570|PMID:19101993|PMID:19147582|PMID:19556618|PMID:1978757|PMID:19850740|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:20805372|PMID:21159183|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22915647|PMID:22923379|PMID:23161690|PMID:23210734|PMID:23246812|PMID:23409989|PMID:23538418|PMID:23630318|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24702488|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25408419|PMID:25564201|PMID:25741868|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681682|PMID:26786923|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28492532|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31775759|PMID:32000721|PMID:32658383|PMID:33372952|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8550239|PMID:8718514|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9662334|PMID:9667734 12119451 TP53 tumor protein p53 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29844410 12119451 TP53 tumor protein p53 gene DOID:363 uterine cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:10064694|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12076704|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18818522|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19171880|PMID:19367569|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21115975|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22983585|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23340422|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25294809|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25619955|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481 12119451 TP53 tumor protein p53 gene DOID:363 uterine cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:36988593|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:3702 cervical adenocarcinoma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:17354237|REF_RGD_ID:2298527 12119451 TP53 tumor protein p53 gene DOID:3717 gastric adenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:10064694|PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:16209708|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22983585|PMID:22999923|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334668|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25619955|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390 12119451 TP53 tumor protein p53 gene DOID:3717 gastric adenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28271309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33635883|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9979965 12119451 TP53 tumor protein p53 gene DOID:3744 cervical squamous cell carcinoma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:17969407|REF_RGD_ID:2298526 12119451 TP53 tumor protein p53 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16543248 12119451 TP53 tumor protein p53 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 12119451 TP53 tumor protein p53 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:misssense mutation: :p.R72P (rs1042522) (human) PMID:28789369|REF_RGD_ID:14995932 12119451 TP53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:2259385|PMID:22672556|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23315175|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24395441|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25619955|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27523101|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28369373|PMID:28453743|PMID:28472496 12119451 TP53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31775759|PMID:32000721|PMID:32295079|PMID:32401780|PMID:32475984|PMID:33372952|PMID:4122735|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:10064694|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25293557|PMID:2531845|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25619955|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680 12119451 TP53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30630526|PMID:30675318|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9979965 12119451 TP53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30630526|PMID:30675318|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9979965 12119451 TP53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:10064694|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25293557|PMID:2531845|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25619955|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727 12119451 TP53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30630526|PMID:30675318|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:34805717|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9979965 12119451 TP53 tumor protein p53 gene DOID:3908 lung non-small cell carcinoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17290066|PMID:23435014|PMID:24688052|PMID:30381462 12119451 TP53 tumor protein p53 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:70502 D RGD:9068941 20210910 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 12119451 TP53 tumor protein p53 gene DOID:3910 lung adenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Adenocarcinoma of lung, somatic | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10064694|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22862161|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627 12119451 TP53 tumor protein p53 gene DOID:3910 lung adenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Adenocarcinoma of lung, somatic | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28271309|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33635883|PMID:33758026|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9979965 12119451 TP53 tumor protein p53 gene DOID:3948 adrenocortical carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma | ClinVar Annotator: match by term: Adrenocortical carcinoma PMID:10229196|PMID:10567903|PMID:10864200|PMID:10871862|PMID:11051241|PMID:11429705|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:12034820|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14584079|PMID:15017592|PMID:15037740|PMID:15390294|PMID:15607980|PMID:1565144|PMID:15951970|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16736287|PMID:16818505|PMID:16861262|PMID:17308077|PMID:17401428|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17724467|PMID:18208484|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18937320|PMID:18989156|PMID:19147582|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19468865|PMID:19681600|PMID:19850740|PMID:20127978|PMID:20128691|PMID:20407015|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:21159183|PMID:21232794|PMID:21343334|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21626334|PMID:21761402|PMID:22186996|PMID:22484423|PMID:22710932|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23259501|PMID:23894400|PMID:23967324|PMID:24033266|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24641375|PMID:24677579|PMID:24728327|PMID:24744791|PMID:24940547|PMID:25157968|PMID:25339994|PMID:25503501|PMID:25584008|PMID:25584637|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25952993|PMID:26014290|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27022024|PMID:27149858|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27533082|PMID:27680515|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29070607|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31050713|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32401780|PMID:33208383|PMID:33332384|PMID:33372952|PMID:33471991|PMID:35938033|PMID:36988593|PMID:6736287|PMID:7707106|PMID:7732013|PMID:7750099|PMID:7887414|PMID:8023157|PMID:8080050|PMID:8164043|PMID:8423216|PMID:8479749|PMID:8869100|PMID:9020384|PMID:9157982|PMID:9242456|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9569050|PMID:9572492 12119451 TP53 tumor protein p53 gene DOID:4001 ovarian carcinoma ISO RGD:70502 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:25535366 12119451 TP53 tumor protein p53 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:10064694|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22983585|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23340422|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25294809|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634208 12119451 TP53 tumor protein p53 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28271309|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33635883|PMID:33758026|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:4247 coronary restenosis ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:14740296|REF_RGD_ID:1580742 12119451 TP53 tumor protein p53 gene DOID:4362 cervical cancer ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cervical cancer PMID:12826609|PMID:1349102|PMID:15982667|PMID:16754663|PMID:1849234|PMID:19913028|PMID:20516128|PMID:20538734|PMID:22110706|PMID:25131192|PMID:25741868|PMID:28492532|PMID:29979965|PMID:30224644|PMID:30374176|PMID:30816478|PMID:9407971 12119451 TP53 tumor protein p53 gene DOID:4450 renal cell carcinoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:10064694|PMID:10366100|PMID:10432928|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10864200|PMID:10922393|PMID:11370630|PMID:11429705|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12034820|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:14584079|PMID:15037740|PMID:15161705|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15850016|PMID:15925506|PMID:15977174|PMID:15982667|PMID:16312222|PMID:1644930|PMID:16494995|PMID:16508005|PMID:16736287|PMID:16818505|PMID:16861262|PMID:17015838|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17724467|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18689542|PMID:18937320|PMID:19012332|PMID:19101993|PMID:19147582|PMID:19171880|PMID:19336573|PMID:19468865|PMID:19556618|PMID:19681600|PMID:19850740|PMID:19913028|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20407015|PMID:20505364|PMID:20506564|PMID:20522432|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21159183|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21514416|PMID:21519010|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22090360|PMID:22186996|PMID:22553460|PMID:22672556|PMID:22710932|PMID:22887876|PMID:22915647|PMID:22923379|PMID:22983585|PMID:23031740|PMID:23161690|PMID:23165212|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23630318|PMID:23894400|PMID:24033266|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24702488|PMID:24728327|PMID:25186627|PMID:25293557|PMID:25503501|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26066407|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26787237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27276561|PMID:27463065|PMID:27493922|PMID:27533082|PMID:27616075|PMID:27622479|PMID:27680515|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28279309|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28975465|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30675318|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31748977|PMID:31775759|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32885271|PMID:33208383|PMID:33332384|PMID:34026625|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7887414|PMID:8023157|PMID:8080050|PMID:8118819|PMID:8401536|PMID:8633021|PMID:8718514|PMID:8829627|PMID:8869100|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9572492|PMID:9635828|PMID:9662334|PMID:9667734 12119451 TP53 tumor protein p53 gene DOID:4450 renal cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:10064694|PMID:10366100|PMID:10432928|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10864200|PMID:10922393|PMID:11370630|PMID:11429705|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12034820|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:14584079|PMID:15037740|PMID:15161705|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15850016|PMID:15925506|PMID:15977174|PMID:15982667|PMID:16312222|PMID:16401470|PMID:1644930|PMID:16494995|PMID:16508005|PMID:16736287|PMID:16818505|PMID:16861262|PMID:17015838|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17724467|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18689542|PMID:18937320|PMID:19012332|PMID:19101993|PMID:19147582|PMID:19171880|PMID:19336573|PMID:19468865|PMID:19556618|PMID:19681600|PMID:19850740|PMID:19913028|PMID:20028212|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20407015|PMID:20505364|PMID:20506564|PMID:20522432|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21159183|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21514416|PMID:21519010|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22090360|PMID:22186996|PMID:22553460|PMID:22672556|PMID:22710932|PMID:22887876|PMID:22915647|PMID:22923379|PMID:22983585|PMID:23031740|PMID:23161690|PMID:23165212|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23630318|PMID:23894400|PMID:24033266|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24702488|PMID:24728327|PMID:25186627|PMID:25293557|PMID:25503501|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26066407|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26787237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27276561|PMID:27463065|PMID:27493922|PMID:27533082|PMID:27616075|PMID:27622479|PMID:27680515|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28279309|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28975465|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30675318|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31748977|PMID:31775759|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32885271|PMID:33208383|PMID:33332384|PMID:33471991|PMID:34026625|PMID:35938033|PMID:36988593|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7887414|PMID:8023157|PMID:8080050|PMID:8118819|PMID:8401536|PMID:8633021|PMID:8718514|PMID:8829627|PMID:8869100|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9572492|PMID:9635828|PMID:9662334|PMID:9667734 12119451 TP53 tumor protein p53 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:17094408|REF_RGD_ID:2290544 12119451 TP53 tumor protein p53 gene DOID:4465 papillary renal cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:10432928|PMID:10589545|PMID:10922393|PMID:11668501|PMID:12826609|PMID:14559903|PMID:15037740|PMID:1565143|PMID:15977174|PMID:16312222|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17390010|PMID:17606709|PMID:18307025|PMID:19101993|PMID:19367569|PMID:19556618|PMID:20028212|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:20805372|PMID:21056685|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21514416|PMID:21761402|PMID:22265402|PMID:22887876|PMID:22923379|PMID:23031740|PMID:23259501|PMID:23630318|PMID:24381225|PMID:24487413|PMID:24603336|PMID:24641375|PMID:24702488|PMID:24744791|PMID:25584008|PMID:25741868|PMID:25945745|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26911350|PMID:27328919|PMID:27714481|PMID:27873457|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28492532|PMID:28724667|PMID:28975465|PMID:29070607|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30730202|PMID:30816478|PMID:31300551|PMID:31775759|PMID:32817165|PMID:33300245|PMID:33471991|PMID:36988593|PMID:7887414|PMID:8023157|PMID:8118819|PMID:8242631|PMID:8401536|PMID:8633021|PMID:9242456|PMID:9627118|PMID:9662334 12119451 TP53 tumor protein p53 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:70502 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:28551630|REF_RGD_ID:15036804 12119451 TP53 tumor protein p53 gene DOID:4468 clear cell adenocarcinoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9754764 12119451 TP53 tumor protein p53 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:11370630|PMID:12826609|PMID:1349175|PMID:1565143|PMID:1565144|PMID:17606709|PMID:19012332|PMID:19468865|PMID:21059199|PMID:21305319|PMID:21343334|PMID:21761402|PMID:22672556|PMID:23161690|PMID:24573247|PMID:25186627|PMID:25584008|PMID:25619955|PMID:25741868|PMID:26014290|PMID:26619011|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27077130|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28975465|PMID:29581140|PMID:29979965|PMID:30224644|PMID:30816478|PMID:32000721|PMID:32475984|PMID:8401536|PMID:8718514|PMID:8829627 12119451 TP53 tumor protein p53 gene DOID:4905 pancreatic carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15221755|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1581912|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:18818522|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20301488|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20471942|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24556621|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24797764|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25186627|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26000489|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26484312|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27101868|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27501770|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27866339|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28486781|PMID:28492532|PMID:28724667|PMID:28873162|PMID:29059199|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30067863|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30653764|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32658383|PMID:33208383|PMID:33372952|PMID:33818021|PMID:34299313|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:7981076|PMID:8062826|PMID:8102535|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8513440|PMID:8550239|PMID:8633021|PMID:8675009|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:4914 esophagus adenocarcinoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 12119451 TP53 tumor protein p53 gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:11440 D RGD:9068941 20200609 RGD DNA:mutations:exons: PMID:26059825|REF_RGD_ID:11075076 12119451 TP53 tumor protein p53 gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:3889 D RGD:9068941 20200609 RGD DNA:mutations:exons: PMID:26059825|REF_RGD_ID:11075076 12119451 TP53 tumor protein p53 gene DOID:4947 cholangiocarcinoma ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16818635 12119451 TP53 tumor protein p53 gene DOID:4947 cholangiocarcinoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 12119451 TP53 tumor protein p53 gene DOID:4948 gallbladder carcinoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of gallbladder PMID:10616528|PMID:11370630|PMID:11593407|PMID:11793474|PMID:11896595|PMID:12007217|PMID:12509279|PMID:12726864|PMID:12826609|PMID:15077194|PMID:15607980|PMID:15607981|PMID:1565143|PMID:16209708|PMID:16312222|PMID:16401470|PMID:16633321|PMID:16778209|PMID:16861262|PMID:17311302|PMID:17530187|PMID:17606709|PMID:17875924|PMID:18511570|PMID:18555592|PMID:19462533|PMID:19556618|PMID:20128691|PMID:20407015|PMID:20516128|PMID:21113594|PMID:21343334|PMID:21761402|PMID:22006311|PMID:22114072|PMID:22233476|PMID:22427690|PMID:22553421|PMID:22887876|PMID:23031740|PMID:23259501|PMID:23263379|PMID:23713777|PMID:23792586|PMID:24573247|PMID:25433984|PMID:25503501|PMID:25584008|PMID:25741868|PMID:25927356|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26497680|PMID:26585234|PMID:26619011|PMID:26911350|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28975465|PMID:29070607|PMID:29979965|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30720243|PMID:30730202|PMID:30840781|PMID:31119730|PMID:31775759|PMID:32658383|PMID:33245408|PMID:33257846|PMID:8023157|PMID:8062826|PMID:8164043|PMID:8336941|PMID:8401536|PMID:8633021|PMID:8825920|PMID:8829653|PMID:9049183|PMID:9290701|PMID:9546439|PMID:9632751 12119451 TP53 tumor protein p53 gene DOID:4971 myelofibrosis disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD associated with Myelodysplastic Syndromes; PMID:26123119|REF_RGD_ID:11073713 12119451 TP53 tumor protein p53 gene DOID:5041 esophageal cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Esophagus cancer PMID:11101847|PMID:11782540|PMID:12007217|PMID:12619118|PMID:12826609|PMID:15607980|PMID:15607981|PMID:15977174|PMID:16401470|PMID:16489069|PMID:16818505|PMID:17606709|PMID:18391940|PMID:18511570|PMID:19127115|PMID:19405127|PMID:19881536|PMID:19930417|PMID:20128691|PMID:20407015|PMID:20516128|PMID:20689556|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22006311|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22698404|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23713777|PMID:23792586|PMID:24033266|PMID:24573247|PMID:25157968|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26534844|PMID:26585234|PMID:26619011|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28492532|PMID:28873162|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:36988593|PMID:8164043|PMID:8825920|PMID:9047394|PMID:9242456 12119451 TP53 tumor protein p53 gene DOID:5409 lung small cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Small cell lung cancer | ClinVar Annotator: match by term: Small cell lung carcinoma PMID:10229196|PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15951970|PMID:15977174|PMID:16209708|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16741917|PMID:16778209|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18307025|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19101993|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19462533|PMID:19556618|PMID:1978757|PMID:19834951|PMID:19850740|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:20455025|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23265383|PMID:23334668|PMID:23538418|PMID:23612969|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24307375|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26022348|PMID:26230955|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:27022024|PMID:27149858|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27523101|PMID:27533082|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28271309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28843361|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29263802|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30546832|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33635883 12119451 TP53 tumor protein p53 gene DOID:5409 lung small cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Small cell lung cancer | ClinVar Annotator: match by term: Small cell lung carcinoma PMID:35938033|PMID:36988593|PMID:7732013|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8829653|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9662334|PMID:9667734|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:5411 lung oat cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lung oat cell carcinoma PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15951970|PMID:15977174|PMID:16209708|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16741917|PMID:16778209|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18307025|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19101993|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19462533|PMID:19556618|PMID:1978757|PMID:19834951|PMID:19850740|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23265383|PMID:23334668|PMID:23538418|PMID:23612969|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24307375|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26022348|PMID:26230955|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:27022024|PMID:27149858|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27523101|PMID:27533082|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28271309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30546832|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33635883|PMID:35938033|PMID:36988593|PMID:7732013|PMID:7887414|PMID:8023157|PMID:8062826 12119451 TP53 tumor protein p53 gene DOID:5411 lung oat cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lung oat cell carcinoma PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8829653|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9662334|PMID:9667734|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:5419 schizophrenia ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 12119451 TP53 tumor protein p53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar Annotator: match by term: Squamous cell carcinoma, head and neck, somatic PMID:10229196|PMID:10366100|PMID:10389749|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10486318|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12067251|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14639659|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15221755|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15722483|PMID:15741269|PMID:15781620|PMID:1581912|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16534790|PMID:16551709|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16964264|PMID:17015838|PMID:17133269|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:17947339|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18391940|PMID:18453682|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19681600|PMID:19717094|PMID:19756158|PMID:1975675|PMID:1978757|PMID:19834951|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20471942|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20589832|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21153778|PMID:21159183|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21348641|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21878961|PMID:21934104|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22203015|PMID:22233476|PMID:22265402|PMID:22373952|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379 12119451 TP53 tumor protein p53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar Annotator: match by term: Squamous cell carcinoma, head and neck, somatic PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23469205|PMID:23484829|PMID:23531339|PMID:23538418|PMID:23570263|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23733769|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24603336|PMID:24630730|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24700732|PMID:24702488|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24835218|PMID:24884479|PMID:24908601|PMID:24936644|PMID:25119136|PMID:25131192|PMID:25157968|PMID:25184754|PMID:25186627|PMID:25234657|PMID:25293557|PMID:25299233|PMID:25303977|PMID:25339994|PMID:25348012|PMID:25428789|PMID:25433984|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634010|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25886176|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26000489|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26556299|PMID:26572807|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681051|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27149858|PMID:27153395|PMID:27179933|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27328919|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28202063|PMID:28230820|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28477317|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28573494|PMID:28724667|PMID:28756477|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29059199|PMID:29070607|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29844874|PMID:29875428|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30067863|PMID:30076369|PMID:30092803|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30588330|PMID:30607672|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31321604|PMID:31422574|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32295079|PMID:32475984|PMID:32554555|PMID:32566746|PMID:32885271|PMID:32930885|PMID:33128190|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33758026|PMID:33818021|PMID:34026625|PMID:4122735 12119451 TP53 tumor protein p53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar Annotator: match by term: Squamous cell carcinoma, head and neck, somatic PMID:7565304|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7966399|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8675009|PMID:8688334|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9407971|PMID:9470817|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:10064694|PMID:10229196|PMID:10366100|PMID:10389749|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10486318|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11403041|PMID:11423991|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668501|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12067251|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14639659|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15221755|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15722483|PMID:15741269|PMID:15781620|PMID:1581912|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16534790|PMID:16551709|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16964264|PMID:17015838|PMID:17133269|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:17947339|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18391940|PMID:18453682|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19681600|PMID:19717094|PMID:19756158|PMID:1975675|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20471942|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20589832|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21115975|PMID:21153778|PMID:21159183|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21348641|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21878961|PMID:21934104|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996 12119451 TP53 tumor protein p53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:22198284|PMID:22203015|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22373952|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23531339|PMID:23538418|PMID:23570263|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23733769|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24630730|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24700732|PMID:24702488|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24763289|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24835218|PMID:24884479|PMID:24908601|PMID:24936644|PMID:25119136|PMID:25131192|PMID:25157968|PMID:25184754|PMID:25186627|PMID:25234657|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:2531845|PMID:25339994|PMID:25348012|PMID:25428789|PMID:25433984|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25886176|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26000489|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681051|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27149858|PMID:27153395|PMID:27179933|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28202063|PMID:28230820|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28477317|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28573494|PMID:28724667|PMID:28756477|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29059199|PMID:29070607|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29844874|PMID:29875428|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30067863|PMID:30076369|PMID:30092803|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134 12119451 TP53 tumor protein p53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:30374176|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30607672|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31321604|PMID:31422574|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32475984|PMID:32554555|PMID:32566746|PMID:32658311|PMID:32658383|PMID:32817165|PMID:32885271|PMID:32930885|PMID:33128190|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33504652|PMID:33758026|PMID:33818021|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7966399|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8675009|PMID:8688334|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9470817|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9839505|PMID:9891044|PMID:9979965 12119451 TP53 tumor protein p53 gene DOID:5648 choroid plexus carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Choroid plexus carcinoma PMID:11051239|PMID:11782540|PMID:12826609|PMID:1631137|PMID:16489069|PMID:16818505|PMID:17417627|PMID:17427234|PMID:17606709|PMID:18762572|PMID:19378321|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20522432|PMID:21059199|PMID:21343334|PMID:21519010|PMID:21601526|PMID:22186996|PMID:22265402|PMID:22507745|PMID:22713868|PMID:22915647|PMID:23172776|PMID:23246812|PMID:23667202|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25584008|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29979965|PMID:30224644|PMID:30327374|PMID:31775759|PMID:36988593|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9242456|PMID:9598730|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11420676|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15722483|PMID:15781620|PMID:16007150|PMID:16199547|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:17133269|PMID:17311302|PMID:17318340|PMID:17541742|PMID:17576681|PMID:17606709|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18511570|PMID:18575712|PMID:19139070|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19556618|PMID:1978757|PMID:19930417|PMID:19933256|PMID:20128691|PMID:20407015|PMID:20436704|PMID:20504876|PMID:20505364|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21626334|PMID:21666498|PMID:22170717|PMID:22186996|PMID:22571758|PMID:2259385|PMID:22703879|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23406775|PMID:23484829|PMID:23555315|PMID:23667851|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24896186|PMID:24916180|PMID:24929325|PMID:25056374|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26527317|PMID:26534844|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26690524|PMID:27146902|PMID:27210295|PMID:27276561|PMID:27374712|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27680515|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28902083|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31422574|PMID:31666926|PMID:31775759|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33818021|PMID:3471991|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9667734|PMID:9681828 12119451 TP53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15722483|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17311302|PMID:17318340|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18393224|PMID:18511570|PMID:18575712|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:1975675|PMID:1978757|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:2259385|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23406775|PMID:23484829|PMID:23555315|PMID:23624782|PMID:23667851|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24896186|PMID:24916180|PMID:24929325|PMID:25034526|PMID:25056374|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26527317|PMID:26534844|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27680515|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28861920|PMID:28902083|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33818021|PMID:3471991|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11403041|PMID:11420676|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17311302|PMID:17318340|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18393224|PMID:18511570|PMID:18575712|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:1975675|PMID:1978757|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21232794|PMID:21343334|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:2259385|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23555315|PMID:23624782|PMID:23667851|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24896186|PMID:24916180|PMID:24929325|PMID:25034526|PMID:25056374|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26527317|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27680515|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28861920|PMID:28902083|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33818021|PMID:3471991|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11403041|PMID:11420676|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17311302|PMID:17318340|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18393224|PMID:18511570|PMID:18575712|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:1975675|PMID:1978757|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21232794|PMID:21343334|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:2259385|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23555315|PMID:23624782|PMID:23667851|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24896186|PMID:24916180|PMID:24929325|PMID:25034526|PMID:25056374|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26527317|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27680515|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28861920|PMID:28902083|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11403041|PMID:11420676|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17311302|PMID:17318340|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18393224|PMID:18511570|PMID:18575712|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:1975675|PMID:1978757|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21232794|PMID:21343334|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:2259385|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23555315|PMID:23624782|PMID:23667851|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24896186|PMID:24916180|PMID:24929325|PMID:25034526|PMID:25056374|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26527317|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27680515|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28230820|PMID:28369373|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28861920|PMID:28902083|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11403041|PMID:11420676|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16033918|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17311302|PMID:17318340|PMID:17436385|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18393224|PMID:18511570|PMID:18575712|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23469205|PMID:23484829|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23667851|PMID:23733769|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28230820|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991 12119451 TP53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33818021|PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11403041|PMID:11420676|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16033918|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17311302|PMID:17318340|PMID:17436385|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18393224|PMID:18511570|PMID:18575712|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23469205|PMID:23484829|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23667851|PMID:23733769|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021 12119451 TP53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17311302|PMID:17318340|PMID:17436385|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18393224|PMID:18511570|PMID:18575712|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23667851|PMID:23733769|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759 12119451 TP53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:32817165|PMID:33128190|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:7887414|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16437140|PMID:16489069|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16941491|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17311302|PMID:17318340|PMID:17417627|PMID:17427234|PMID:17436385|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18393224|PMID:18511570|PMID:18575712|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20575032|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:21761402|PMID:22170717|PMID:22186996|PMID:22265402|PMID:22507745|PMID:22571758|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23172776|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23667202|PMID:23667851|PMID:23733769|PMID:23887774|PMID:23897043|PMID:23950206|PMID:23973262|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24603336|PMID:24651015|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26690524|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29025599|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567 12119451 TP53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30588330|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:32817165|PMID:33128190|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:7887414|PMID:8080050|PMID:8099841|PMID:8242752|PMID:8352280|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9598730|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30588330|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:32817165|PMID:33128190|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:36988593|PMID:7599045|PMID:7706467|PMID:7707106|PMID:7887414|PMID:8080050|PMID:8099841|PMID:8242752|PMID:8352280|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9598730|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:5744 ovary serous adenocarcinoma ISO RGD:70502 D RGD:9068941 20200609 RGD DNA, protein:loss of heterozygosity, increased expression:ovary PMID:1310251|REF_RGD_ID:2290540 12119451 TP53 tumor protein p53 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:10064694|PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136 12119451 TP53 tumor protein p53 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:25157968|PMID:25186627|PMID:25293557|PMID:25294809|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28271309|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33635883|PMID:33758026|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9979965 12119451 TP53 tumor protein p53 gene DOID:5773 oral submucous fibrosis ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:oral mucosa: PMID:23776093|REF_RGD_ID:8547855 12119451 TP53 tumor protein p53 gene DOID:5844 myocardial infarction ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 12119451 TP53 tumor protein p53 gene DOID:6000 congestive heart failure ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21284947 12119451 TP53 tumor protein p53 gene DOID:6171 uterine carcinosarcoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:10064694|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16209708|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18818522|PMID:18989156|PMID:19101993|PMID:1915267|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20693561|PMID:20805372|PMID:20878954|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21115975|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334668|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25157968|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145 12119451 TP53 tumor protein p53 gene DOID:6171 uterine carcinosarcoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:28152038|PMID:28160093|PMID:28176830|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30322717|PMID:30327374|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31105275|PMID:31119730|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32658383|PMID:32817165|PMID:32885271|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505 12119451 TP53 tumor protein p53 gene DOID:6179 ovarian small cell carcinoma ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Small cell carcinoma of the ovary, hypercalcemic type 12119451 TP53 tumor protein p53 gene DOID:6432 pulmonary hypertension treatment ISO RGD:11440 D RGD:9068941 20200609 RGD PMID:24334871|REF_RGD_ID:10043360 12119451 TP53 tumor protein p53 gene DOID:6536 plasma cell neoplasm ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:10064694|PMID:10411893|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15607980|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15925506|PMID:15951970|PMID:15993273|PMID:16258005|PMID:1631137|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:1673792|PMID:16793544|PMID:16818505|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17308077|PMID:1737852|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19147582|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20878954|PMID:21059199|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23264849|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23667202|PMID:23713777|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25293557|PMID:25294809|PMID:25339994|PMID:25428789|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:26014290|PMID:26022348|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26534844|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26781615|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27533082|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30306255|PMID:30322717|PMID:30327374|PMID:30583724|PMID:30630526|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32817165|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:36988593|PMID:7651740|PMID:7732013|PMID:7737263|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8364550|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:9020384|PMID:9096669|PMID:9157982|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9635828|PMID:9667734|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:657 adenoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21946351 12119451 TP53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:7240710 20180130 OMIM 12119451 TP53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11315715|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12619118|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15161705|PMID:15308588|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18391940|PMID:18453682|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18685109|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19881536|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20538734|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23315175|PMID:23334668|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24395441|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25326637|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27153395 12119451 TP53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28271309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:32000721|PMID:32295079|PMID:32401780|PMID:32475984|PMID:32885271|PMID:33372952|PMID:33635883|PMID:4122735|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11315715|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12619118|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15161705|PMID:15308588|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18391940|PMID:18453682|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18685109|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19881536|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20538734|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23315175|PMID:23334668|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24395441|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858 12119451 TP53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA PMID:27153395|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28271309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:32000721|PMID:32295079|PMID:32401780|PMID:32475984|PMID:32885271|PMID:33372952|PMID:33635883|PMID:4122735|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11315715|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12619118|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15060172|PMID:15077194|PMID:15161705|PMID:15308588|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15564800|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:16000567|PMID:16209708|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18391940|PMID:18453682|PMID:18477611|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18689542|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19881536|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20538734|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334668|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25131192|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26580448|PMID:26585234|PMID:26619011 12119451 TP53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:26628864|PMID:26641009|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28271309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31559875|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32401780|PMID:32475984|PMID:32885271|PMID:32899294|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33635883|PMID:34026625|PMID:4122735|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9047394|PMID:9049183|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9405613|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:10064694|PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11315715|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12726864|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15060172|PMID:15077194|PMID:15161705|PMID:15308588|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15564800|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:16000567|PMID:16199549|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18391940|PMID:18453682|PMID:18477611|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19681600|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19881536|PMID:19913028|PMID:19930417|PMID:1999338|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334668|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23887774 12119451 TP53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25131192|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25516983|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26681312|PMID:26718964|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27153395|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28271309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30154229|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31559875|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:32899294|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33635883|PMID:34026625|PMID:34299313|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9047394|PMID:9049183|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9405613|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:3889 D RGD:9068941 20220714 RGD PMID:33841550|REF_RGD_ID:152998960 12119451 TP53 tumor protein p53 gene DOID:6846 familial melanoma ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:12826609|PMID:25741868|PMID:28492532 12119451 TP53 tumor protein p53 gene DOID:6846 familial melanoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:12826609|PMID:25741868|PMID:28492532|PMID:29979965|PMID:30224644 12119451 TP53 tumor protein p53 gene DOID:687 hepatoblastoma ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:12826609|PMID:1565143|PMID:17606709|PMID:19556618|PMID:20128691|PMID:21343334|PMID:22887876|PMID:23031740|PMID:25741868|PMID:26585234|PMID:26619011|PMID:28492532|PMID:29070607|PMID:29979965|PMID:30224644|PMID:31775759|PMID:8401536|PMID:8633021 12119451 TP53 tumor protein p53 gene DOID:700 mitochondrial metabolism disease ISO RGD:70502 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 12119451 TP53 tumor protein p53 gene DOID:705 Leber hereditary optic neuropathy onset ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R72P(human) PMID:15838728|REF_RGD_ID:5688732 12119451 TP53 tumor protein p53 gene DOID:7575 pancreatic intraductal papillary-mucinous neoplasm ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:missense mutations: :multiple PMID:28930868|REF_RGD_ID:14995501 12119451 TP53 tumor protein p53 gene DOID:7614 meninges sarcoma ISO RGD:3889 D RGD:9068941 20210430 RGD PMID:27528400|REF_RGD_ID:12738450 12119451 TP53 tumor protein p53 gene DOID:769 neuroblastoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:10064694|PMID:10864200|PMID:11896595|PMID:12826609|PMID:15925506|PMID:17390010|PMID:17572079|PMID:19850740|PMID:20407015|PMID:21305319|PMID:21343334|PMID:23894400|PMID:25293557|PMID:25741868|PMID:26619011|PMID:27493922|PMID:28492532|PMID:29979965|PMID:30224644|PMID:34026625|PMID:7651740|PMID:9546439 12119451 TP53 tumor protein p53 gene DOID:83 cataract ISO RGD:11440 D RGD:9068941 20200609 RGD PMID:21504908|REF_RGD_ID:8547757 12119451 TP53 tumor protein p53 gene DOID:8418 congenital fibrosarcoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Infantile fibrosarcoma PMID:11051239|PMID:11782540|PMID:12826609|PMID:1631137|PMID:16489069|PMID:16818505|PMID:17417627|PMID:17427234|PMID:17606709|PMID:19378321|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20522432|PMID:21059199|PMID:21343334|PMID:21519010|PMID:21601526|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:23172776|PMID:23246812|PMID:23667202|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29979965|PMID:30224644|PMID:30327374|PMID:31775759|PMID:36988593|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9242456|PMID:9598730|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:8541 Sezary's disease ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667|PMID:26551670 12119451 TP53 tumor protein p53 gene DOID:863 nervous system disease ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9369336 12119451 TP53 tumor protein p53 gene DOID:8725 vascular dementia ISO RGD:3889 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:18083315|REF_RGD_ID:2290557 12119451 TP53 tumor protein p53 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia PMID:11370630|PMID:20522432|PMID:28492532 12119451 TP53 tumor protein p53 gene DOID:8893 psoriasis ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10384915 12119451 TP53 tumor protein p53 gene DOID:8923 skin melanoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27911860|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053 12119451 TP53 tumor protein p53 gene DOID:8923 skin melanoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33332384|PMID:33372952|PMID:33758026|PMID:34026625|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:8923 skin melanoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496 12119451 TP53 tumor protein p53 gene DOID:8923 skin melanoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:34805717|PMID:35938033|PMID:36988593|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24185509|PMID:24997986 12119451 TP53 tumor protein p53 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3889 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:23595775|REF_RGD_ID:10412063 12119451 TP53 tumor protein p53 gene DOID:9000081 Lymphatic Metastasis ISO RGD:11440 D RGD:9068941 20200609 RGD associated with Carcinoma, Squamous Cell; PMID:18059331|REF_RGD_ID:8547790 12119451 TP53 tumor protein p53 gene DOID:9000081 Lymphatic Metastasis ISO RGD:70502 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA:missense mutation, duplication:cds, intron:p.R72P PMID:18230179|REF_RGD_ID:2290534 12119451 TP53 tumor protein p53 gene DOID:9000081 Lymphatic Metastasis ISO RGD:70502 D RGD:9068941 20200609 RGD associated with Penile Neoplasms PMID:18268397|REF_RGD_ID:2290533 12119451 TP53 tumor protein p53 gene DOID:9000117 Esophageal Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12706858 12119451 TP53 tumor protein p53 gene DOID:9000117 Esophageal Neoplasms ISO RGD:11440 D RGD:9068941 20200609 RGD PMID:16778087|REF_RGD_ID:8547873 12119451 TP53 tumor protein p53 gene DOID:9000117 Esophageal Neoplasms ISO RGD:3889 D RGD:9068941 20200609 RGD protein:increased expression:esophageal mucosa: PMID:26439224|REF_RGD_ID:11075085 12119451 TP53 tumor protein p53 gene DOID:9000117 Esophageal Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17634542|PMID:26192916 12119451 TP53 tumor protein p53 gene DOID:9000217 Stomach Neoplasms ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:11040944|PMID:11391594|PMID:11782540|PMID:12826609|PMID:15173255|PMID:15580553|PMID:16818505|PMID:17224268|PMID:17289876|PMID:17606709|PMID:17727479|PMID:19367569|PMID:19714488|PMID:20407015|PMID:21232794|PMID:21343334|PMID:21512767|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22652532|PMID:22710932|PMID:22915647|PMID:23246812|PMID:23484829|PMID:23894400|PMID:24033266|PMID:24728327|PMID:24868540|PMID:25527155|PMID:25637381|PMID:25741868|PMID:25952993|PMID:26086041|PMID:26230955|PMID:26467025|PMID:26585234|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28125078|PMID:28492532|PMID:28772286|PMID:28861920|PMID:29300620|PMID:29945567|PMID:29979965|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30374176|PMID:30883245|PMID:31016814|PMID:31159747|PMID:31749828|PMID:8198984|PMID:8203469|PMID:9865903 12119451 TP53 tumor protein p53 gene DOID:9000227 Hypogonadism and Testicular Atrophy ISO RGD:3889 D RGD:9068941 20211001 RGD PMID:28834365|REF_RGD_ID:14995504 12119451 TP53 tumor protein p53 gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747643 12119451 TP53 tumor protein p53 gene DOID:9000555 Vulvar Lichen Sclerosus ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17300232 12119451 TP53 tumor protein p53 gene DOID:9000647 Acute Erythroleukemia ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 12119451 TP53 tumor protein p53 gene DOID:9000906 Oropharyngeal Neoplasms disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:11072161|REF_RGD_ID:8547874 12119451 TP53 tumor protein p53 gene DOID:9000918 Disease Progression ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 12119451 TP53 tumor protein p53 gene DOID:9000965 Neoplasm Metastasis ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22009531|PMID:23873029|PMID:27137931 12119451 TP53 tumor protein p53 gene DOID:9000965 Neoplasm Metastasis ISO RGD:3889 D RGD:9068941 20200609 RGD associated with Sarcoma; PMID:21854749|REF_RGD_ID:11075090 12119451 TP53 tumor protein p53 gene DOID:9000965 Neoplasm Metastasis ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17949449 12119451 TP53 tumor protein p53 gene DOID:9001510 Funnel Chest ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:11051239|PMID:11782540|PMID:12826609|PMID:1631137|PMID:16489069|PMID:16818505|PMID:17417627|PMID:17427234|PMID:17606709|PMID:19378321|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20522432|PMID:21059199|PMID:21343334|PMID:21519010|PMID:21601526|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:23172776|PMID:23246812|PMID:23667202|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29979965|PMID:30224644|PMID:30327374|PMID:31775759|PMID:36988593|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9242456|PMID:9598730|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 12119451 TP53 tumor protein p53 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10626228 12119451 TP53 tumor protein p53 gene DOID:9001626 Chromosome 17 Deletion ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14961032 12119451 TP53 tumor protein p53 gene DOID:9002165 Diabetic Nephropathies ISO RGD:3889 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17901943|REF_RGD_ID:2290561 12119451 TP53 tumor protein p53 gene DOID:9002170 Experimental Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12756225|PMID:27137931 12119451 TP53 tumor protein p53 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15925506|PMID:15951970|PMID:15977174|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16682957|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:18307025|PMID:18511570|PMID:18685109|PMID:18937320|PMID:19101993|PMID:19147582|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20805372|PMID:20878954|PMID:21056685|PMID:21059199|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23263379|PMID:23265383|PMID:23538418|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26534844|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26781615|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28160093|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30322717|PMID:30327374|PMID:30583724|PMID:30630526|PMID:30709875|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31105275|PMID:31119730|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32817165|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:34026625|PMID:34308366|PMID:34994652|PMID:36988593|PMID:7651740|PMID:7732013|PMID:7737263|PMID:7791795|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8718514|PMID:8825920|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9825943|PMID:9839505 12119451 TP53 tumor protein p53 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:10867151|REF_RGD_ID:11075074 12119451 TP53 tumor protein p53 gene DOID:9002304 Prostatic Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16434975|PMID:17202838|PMID:20875869|PMID:21946351|PMID:25735316|PMID:26005866|PMID:29295717|PMID:29610475 12119451 TP53 tumor protein p53 gene DOID:9002371 Cardiotoxicity ISO RGD:11440 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:30009776|PMID:34713381 12119451 TP53 tumor protein p53 gene DOID:9002371 Cardiotoxicity ISO RGD:70502 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:30009776|PMID:34713381 12119451 TP53 tumor protein p53 gene DOID:9002641 Bone Marrow Neoplasms disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:24761810|REF_RGD_ID:11073734 12119451 TP53 tumor protein p53 gene DOID:9002644 Premature Aging ISO RGD:11440 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:19500727|REF_RGD_ID:10045876 12119451 TP53 tumor protein p53 gene DOID:9002762 Ovarian Neoplasms ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:10064694|PMID:10229196|PMID:10389749|PMID:10411893|PMID:10432928|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10754498|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11222779|PMID:11229518|PMID:11254385|PMID:11313981|PMID:11315715|PMID:11370630|PMID:11420676|PMID:11423991|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12610779|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349102|PMID:1349175|PMID:14559903|PMID:14584079|PMID:14612556|PMID:14673037|PMID:14965603|PMID:15004724|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15308588|PMID:15342977|PMID:15381368|PMID:15390294|PMID:15564800|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16534790|PMID:16551709|PMID:16633321|PMID:16644204|PMID:16682957|PMID:1672732|PMID:1673792|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16969106|PMID:17015838|PMID:17224268|PMID:17311302|PMID:17318340|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17591842|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18307025|PMID:18391940|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1918170|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19468865|PMID:19556618|PMID:19681600|PMID:19711436|PMID:19714490|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19881536|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20198344|PMID:20234365|PMID:20364130|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20478780|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20538734|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21225465|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21626334|PMID:21665182|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22203015|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22507745|PMID:22540896|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22862161|PMID:22878818|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:22983585|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23340422|PMID:23409989|PMID:23484829|PMID:23538418|PMID:23580068|PMID:23625637|PMID:23630318|PMID:23639785|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24251760|PMID:24256616 12119451 TP53 tumor protein p53 gene DOID:9002762 Ovarian Neoplasms ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:24278325|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24700732|PMID:24702488|PMID:24744791|PMID:24803582|PMID:24810334|PMID:24835218|PMID:24835311|PMID:24929325|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25157968|PMID:25186627|PMID:25226867|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25516983|PMID:25525159|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25612911|PMID:25619955|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25981898|PMID:26014290|PMID:26024390|PMID:26029016|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27493922|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27726232|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28091804|PMID:28152038|PMID:28160093|PMID:28271309|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28503720|PMID:28573494|PMID:28664506|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29456621|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29946497|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30107858|PMID:30154229|PMID:30216591|PMID:30224644|PMID:30322717|PMID:30327374|PMID:30374176|PMID:30607672|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31559875|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32029870|PMID:32295079|PMID:32475984|PMID:32555031|PMID:32658383|PMID:32817165|PMID:32899294|PMID:32930885|PMID:33245408|PMID:33257846|PMID:33372952|PMID:33471991|PMID:33504652|PMID:33635883|PMID:33758026|PMID:34026625|PMID:34095982|PMID:34299313|PMID:34529667|PMID:34805717|PMID:34906512|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7599045|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7969167|PMID:7978053|PMID:8023157|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8164043|PMID:8208536|PMID:8242631|PMID:8302608|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9067756|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9452042|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9825943|PMID:9839505 12119451 TP53 tumor protein p53 gene DOID:9002775 Cognitive Dysfunction ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:11051239|PMID:11782540|PMID:12826609|PMID:1631137|PMID:16489069|PMID:16818505|PMID:17417627|PMID:17427234|PMID:17606709|PMID:19378321|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20522432|PMID:21059199|PMID:21343334|PMID:21519010|PMID:21601526|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:23172776|PMID:23246812|PMID:23667202|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29979965|PMID:30224644|PMID:30327374|PMID:31775759|PMID:36988593|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9242456|PMID:9598730|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:9002884 Emphysema ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22276220 12119451 TP53 tumor protein p53 gene DOID:9002928 Colonic Neoplasms ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:12826609|PMID:20978130|PMID:24549055|PMID:25741868|PMID:28492532|PMID:28861920|PMID:30224644|PMID:33471991 12119451 TP53 tumor protein p53 gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia susceptibility ISO RGD:70502 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA:SNP:cds: p.R72P(rs1042522)(human) PMID:21706156|REF_RGD_ID:11073725 12119451 TP53 tumor protein p53 gene DOID:9003036 Oral Lichen Planus ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:12120703|REF_RGD_ID:8547838 12119451 TP53 tumor protein p53 gene DOID:9003036 Oral Lichen Planus ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:epithelium PMID:16393253|REF_RGD_ID:8547841 12119451 TP53 tumor protein p53 gene DOID:9003155 Parasitic Liver Diseases ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 12119451 TP53 tumor protein p53 gene DOID:9003196 Penile Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9626339 12119451 TP53 tumor protein p53 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:10567903|PMID:10589545|PMID:10914716|PMID:11051239|PMID:11593407|PMID:11782540|PMID:11793474|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12826609|PMID:14673037|PMID:15825182|PMID:15925506|PMID:16288208|PMID:1631151|PMID:16337994|PMID:16818505|PMID:16861262|PMID:17606709|PMID:18555592|PMID:18818522|PMID:18989156|PMID:19367569|PMID:19681600|PMID:19834951|PMID:20128691|PMID:20407015|PMID:20878954|PMID:21115975|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22915647|PMID:22999923|PMID:23246812|PMID:23265383|PMID:23334668|PMID:24590827|PMID:25294809|PMID:25504633|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25927356|PMID:25952993|PMID:26230955|PMID:26585234|PMID:26619011|PMID:26781615|PMID:27179933|PMID:27276561|PMID:27463065|PMID:27501770|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28160093|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29470806|PMID:29753700|PMID:29979965|PMID:30224644|PMID:30322717|PMID:30327374|PMID:30583724|PMID:30630526|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31105275|PMID:32000721|PMID:33471991|PMID:34308366|PMID:34994652|PMID:7737263|PMID:8023157|PMID:8344492|PMID:8464896|PMID:8633021|PMID:9020384|PMID:9157982|PMID:9268986|PMID:9572492 12119451 TP53 tumor protein p53 gene DOID:9003535 Bone Marrow Failure Syndrome 5 ISO RGD:70502 D RGD:7240710 20190315 OMIM 12119451 TP53 tumor protein p53 gene DOID:9003535 Bone Marrow Failure Syndrome 5 ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bone marrow failure syndrome 5 PMID:10432928|PMID:10519380|PMID:10589545|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11370630|PMID:11403041|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15037740|PMID:15355915|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16437140|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16818505|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:19881536|PMID:1999338|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24573247|PMID:24641375|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24835218|PMID:25157968|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26911350|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29489754|PMID:29979965|PMID:30146126|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:9003566 Mesothelioma ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151629 12119451 TP53 tumor protein p53 gene DOID:9003571 Paraproteinemias ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:10064694|PMID:10411893|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15607980|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15925506|PMID:15951970|PMID:15993273|PMID:16258005|PMID:1631137|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:1673792|PMID:16793544|PMID:16818505|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17308077|PMID:1737852|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19147582|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20878954|PMID:21059199|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23264849|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23667202|PMID:23713777|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25293557|PMID:25294809|PMID:25339994|PMID:25428789|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:26014290|PMID:26022348|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26534844|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26781615|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27533082|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30306255|PMID:30322717|PMID:30327374|PMID:30583724|PMID:30630526|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32817165|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:36988593|PMID:7651740|PMID:7732013|PMID:7737263|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8364550|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:9020384|PMID:9096669|PMID:9157982|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9635828|PMID:9667734|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:9003694 Cecal Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14688030 12119451 TP53 tumor protein p53 gene DOID:9004009 Reperfusion Injury ISO RGD:3889 D RGD:9068941 20200609 RGD protein:increased expression:brain, mitochondrion PMID:17661174|REF_RGD_ID:2290568 12119451 TP53 tumor protein p53 gene DOID:9004059 Eye Neoplasms ISO RGD:11440 D RGD:9068941 20230429 RGD PMID:21504908|REF_RGD_ID:8547757 12119451 TP53 tumor protein p53 gene DOID:9004217 Nerve Sheath Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20176786 12119451 TP53 tumor protein p53 gene DOID:9004240 Phyllodes Tumor disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:16889904|REF_RGD_ID:2290545 12119451 TP53 tumor protein p53 gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive PMID:25741868|PMID:28492532 12119451 TP53 tumor protein p53 gene DOID:9004397 calcification of aortic valve ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29358327 12119451 TP53 tumor protein p53 gene DOID:9004397 calcification of aortic valve ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29358327 12119451 TP53 tumor protein p53 gene DOID:9004464 Skin Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22009531|PMID:27923803 12119451 TP53 tumor protein p53 gene DOID:9004464 Skin Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12635827 12119451 TP53 tumor protein p53 gene DOID:9004464 Skin Neoplasms ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:polymorphism,mutations:cds:p.R72P(human) PMID:21123835|REF_RGD_ID:8547834 12119451 TP53 tumor protein p53 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:70502 D RGD:9068941 20200609 RGD associated with Small Cell Lung Carcinoma;DNA:SNP:: rs1042522(human) PMID:24732641|REF_RGD_ID:11073715 12119451 TP53 tumor protein p53 gene DOID:9004547 Thyroid Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16940797 12119451 TP53 tumor protein p53 gene DOID:9004643 Urologic Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22071594 12119451 TP53 tumor protein p53 gene DOID:9004997 Pediatric Adrenocortical Carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, pediatric PMID:10864200|PMID:11051239|PMID:11481490|PMID:11600572|PMID:11753428|PMID:12826609|PMID:15121773|PMID:15741269|PMID:16033918|PMID:16494995|PMID:18248785|PMID:18762572|PMID:19717094|PMID:19877175|PMID:20301488|PMID:20407015|PMID:21192060|PMID:22507745|PMID:23469205|PMID:23570263|PMID:23733769|PMID:23894400|PMID:24884479|PMID:24936644|PMID:25584008|PMID:25741868|PMID:26452166|PMID:26572807|PMID:26681051|PMID:27223487|PMID:27663983|PMID:27714481|PMID:28369373|PMID:28387921|PMID:28472496|PMID:28492532|PMID:28756477|PMID:28864397|PMID:28968711|PMID:28984303|PMID:30107858|PMID:36988593|PMID:9704930|PMID:9704931 12119451 TP53 tumor protein p53 gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:70502 D RGD:7240710 20180130 OMIM 12119451 TP53 tumor protein p53 gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10864200|PMID:10922393|PMID:11040944|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11391594|PMID:11403041|PMID:11479205|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15121773|PMID:15173255|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15741269|PMID:15781620|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17224268|PMID:17289876|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17727479|PMID:18199664|PMID:18248785|PMID:18307025|PMID:18391940|PMID:18393224|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19165225|PMID:19224462|PMID:19367569|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21356188|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21637529|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22507745|PMID:22652532|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23403321|PMID:23469205|PMID:23484829|PMID:23538418|PMID:23570263|PMID:23580068|PMID:23624782|PMID:23630318|PMID:23733769|PMID:23792586|PMID:23887774|PMID:23894400|PMID:24033266|PMID:24076587|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24448499|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24663046|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:24868540|PMID:24884479|PMID:24936644|PMID:25034526|PMID:25157968|PMID:25169539|PMID:25339039|PMID:25348012|PMID:25452441|PMID:25503501|PMID:25516983|PMID:25527155|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26911350|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27153395|PMID:27157322|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:27501770|PMID:27516001|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27930734|PMID:27959731|PMID:27993330|PMID:28125078|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28724667|PMID:28756477|PMID:28772286|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28968711|PMID:28984303|PMID:29070607|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29769598|PMID:29945567|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30212483|PMID:30224644|PMID:30287823|PMID:30327374 12119451 TP53 tumor protein p53 gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary PMID:30374176|PMID:30588330|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31159747|PMID:31321604|PMID:31742824|PMID:31749828|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:32675277|PMID:32817165|PMID:33120919|PMID:33257846|PMID:33372952|PMID:33471991|PMID:34299313|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7796267|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8242752|PMID:8352280|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9865903|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:9005161 Thymus Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10850423 12119451 TP53 tumor protein p53 gene DOID:9005172 Lung Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16247444|PMID:26390243 12119451 TP53 tumor protein p53 gene DOID:9005172 Lung Neoplasms ISO RGD:3889 D RGD:9068941 20200609 RGD DNA:transitional mutations:exons: PMID:10564948|REF_RGD_ID:11075092 12119451 TP53 tumor protein p53 gene DOID:9005172 Lung Neoplasms ISO RGD:70502 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11798837|PMID:16410370|PMID:17325666|PMID:20727180|PMID:26192916|PMID:8049841 12119451 TP53 tumor protein p53 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nasopharyngeal Neoplasms | ClinVar Annotator: match by term: Nasopharyngeal neoplasm PMID:10589545|PMID:10914716|PMID:11370630|PMID:11782540|PMID:11920788|PMID:12007217|PMID:12124823|PMID:12826609|PMID:15607980|PMID:15607981|PMID:15825182|PMID:16288208|PMID:1631151|PMID:16401470|PMID:16494995|PMID:16736287|PMID:16818505|PMID:16861262|PMID:17541742|PMID:17606709|PMID:17724467|PMID:18208484|PMID:18555592|PMID:19468865|PMID:19834951|PMID:20128691|PMID:20407015|PMID:20505364|PMID:20516128|PMID:20522432|PMID:21343334|PMID:21514416|PMID:21519010|PMID:21626334|PMID:21761402|PMID:22006311|PMID:22186996|PMID:22233476|PMID:22915647|PMID:22999923|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334668|PMID:23792586|PMID:24033266|PMID:24384472|PMID:24573247|PMID:24728327|PMID:25503501|PMID:25741868|PMID:25927356|PMID:25952993|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26467025|PMID:26585234|PMID:26619011|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28369373|PMID:28492532|PMID:28724667|PMID:28861920|PMID:29489754|PMID:29979965|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30327374|PMID:30720243|PMID:30840781|PMID:31119730|PMID:31775759|PMID:33245408|PMID:33257846|PMID:33332384|PMID:6736287|PMID:7707106|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8164043|PMID:8344492|PMID:8464896|PMID:8633021|PMID:8825920|PMID:8869100|PMID:9546439|PMID:9632751 12119451 TP53 tumor protein p53 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24809783 12119451 TP53 tumor protein p53 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:17470299|REF_RGD_ID:2290577 12119451 TP53 tumor protein p53 gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:11440 D RGD:9068941 20200609 RGD PMID:18092324|REF_RGD_ID:2290539 12119451 TP53 tumor protein p53 gene DOID:9005582 Adrenal Cortex Neoplasms ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:missense mutation::p.R337H (human) PMID:28387921|REF_RGD_ID:14995484 12119451 TP53 tumor protein p53 gene DOID:9005642 Odontogenic Myxoma ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:hypomethylation:promotor: PMID:22011900|REF_RGD_ID:8547808 12119451 TP53 tumor protein p53 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21078376 12119451 TP53 tumor protein p53 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:24828139|REF_RGD_ID:8662307 12119451 TP53 tumor protein p53 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23792339 12119451 TP53 tumor protein p53 gene DOID:9005779 Polyploidy ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25125259 12119451 TP53 tumor protein p53 gene DOID:9005804 Vulvar Neoplasms ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:30514679|REF_RGD_ID:14995938 12119451 TP53 tumor protein p53 gene DOID:9005804 Vulvar Neoplasms ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:vulva PMID:16033093|REF_RGD_ID:2290537 12119451 TP53 tumor protein p53 gene DOID:9005873 Tongue Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16543248 12119451 TP53 tumor protein p53 gene DOID:9005873 Tongue Neoplasms ISO RGD:3889 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:12167434|REF_RGD_ID:8547871 12119451 TP53 tumor protein p53 gene DOID:9005873 Tongue Neoplasms ISO RGD:3889 D RGD:9068941 20200609 RGD protein:increased expression:tongue: PMID:9485768|REF_RGD_ID:8547872 12119451 TP53 tumor protein p53 gene DOID:9005873 Tongue Neoplasms ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:21903770|REF_RGD_ID:8547850 12119451 TP53 tumor protein p53 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Head and Neck Neoplasms PMID:20522432|PMID:23255406|PMID:24382691|PMID:25157968|PMID:25741868|PMID:26225655|PMID:27726232|PMID:28492532|PMID:28873162|PMID:30107858|PMID:31775759|PMID:36988593|PMID:9067756 12119451 TP53 tumor protein p53 gene DOID:9006205 Animal Disease Models ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23873029 12119451 TP53 tumor protein p53 gene DOID:9006657 Colon Diverticulum ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colonic diverticula PMID:16969106|PMID:17567834|PMID:19556618|PMID:19711436|PMID:19714490|PMID:20436704|PMID:20522432|PMID:21519010|PMID:21665182|PMID:21761402|PMID:22186996|PMID:23484829|PMID:24033266|PMID:24382691|PMID:25516983|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26425688|PMID:26718964|PMID:26911350|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28492532|PMID:30224644|PMID:31742824 12119451 TP53 tumor protein p53 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9369336 12119451 TP53 tumor protein p53 gene DOID:9006864 Trigeminal Nerve Injuries ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:22977862|REF_RGD_ID:8547771 12119451 TP53 tumor protein p53 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10064694|PMID:10366100|PMID:10432928|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10864200|PMID:10922393|PMID:11370630|PMID:11429705|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12034820|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:14584079|PMID:15037740|PMID:15161705|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15850016|PMID:15925506|PMID:15977174|PMID:15982667|PMID:16312222|PMID:16401470|PMID:1644930|PMID:16494995|PMID:16508005|PMID:16736287|PMID:16818505|PMID:16861262|PMID:17015838|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17724467|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18689542|PMID:18937320|PMID:19012332|PMID:19101993|PMID:19147582|PMID:19171880|PMID:19336573|PMID:19468865|PMID:19556618|PMID:19681600|PMID:19850740|PMID:19913028|PMID:20028212|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20407015|PMID:20505364|PMID:20506564|PMID:20522432|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21159183|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21514416|PMID:21519010|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22090360|PMID:22186996|PMID:22553460|PMID:22672556|PMID:22710932|PMID:22887876|PMID:22915647|PMID:22923379|PMID:22983585|PMID:23031740|PMID:23161690|PMID:23165212|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23630318|PMID:23894400|PMID:24033266|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24702488|PMID:24728327|PMID:25186627|PMID:25293557|PMID:25503501|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26066407|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26787237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27276561|PMID:27463065|PMID:27493922|PMID:27533082|PMID:27616075|PMID:27622479|PMID:27680515|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28279309|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28975465|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30675318|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31748977|PMID:31775759|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32885271|PMID:33208383|PMID:33332384|PMID:33471991|PMID:34026625|PMID:35938033|PMID:36988593|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7887414|PMID:8023157|PMID:8080050|PMID:8118819|PMID:8401536|PMID:8633021|PMID:8718514|PMID:8829627|PMID:8869100|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9572492|PMID:9635828|PMID:9662334|PMID:9667734 12119451 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10064694|PMID:10206274|PMID:10229196|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10477429|PMID:10484981|PMID:10486318|PMID:10497279|PMID:10507764|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10570149|PMID:10589545|PMID:10606817|PMID:10653977|PMID:10654936|PMID:10673500|PMID:10713666|PMID:10719737|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11124955|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11254385|PMID:11285227|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11403041|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11453810|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11715068|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12067251|PMID:12070601|PMID:12124823|PMID:12170762|PMID:12209975|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12509970|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619103|PMID:12619118|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12759621|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:1394133|PMID:14559903|PMID:14612556|PMID:14639659|PMID:14670539|PMID:14673037|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15192123|PMID:15221755|PMID:15308588|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15469940|PMID:15489903|PMID:15541116|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:15611070|PMID:1562462|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15781632|PMID:15784129|PMID:1581912|PMID:15825182|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16061860|PMID:16199547|PMID:16199549|PMID:16204849|PMID:16209708|PMID:16229746|PMID:16258005|PMID:16288208|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16477330|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16522644|PMID:16534790|PMID:16551709|PMID:16596195|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17133269|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401432|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17627286|PMID:17636407|PMID:17638920|PMID:17690113|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17875924|PMID:17903248|PMID:17947339|PMID:17982662|PMID:18037961|PMID:18094375|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18348285|PMID:18348286|PMID:18391940|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18563462|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:18978813|PMID:19012332|PMID:19020536|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267 12119451 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19160491|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19238535|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19558493|PMID:19581934|PMID:19671856|PMID:19681600|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21323968|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21900752|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22484423|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22829111|PMID:22866089|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22983585|PMID:23031740|PMID:23056405|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23315175|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24224046|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24374182|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24395441|PMID:24448499|PMID:24451277|PMID:24487276|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24835218 12119451 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24853176|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256751|PMID:25293557|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:25422255|PMID:25428789|PMID:25452441|PMID:25460562|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25637381|PMID:25669829|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25923920|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26086041|PMID:26094658|PMID:26200271|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718692|PMID:26718964|PMID:26743472|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26876197|PMID:26878390|PMID:26900293|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27147571|PMID:27149858|PMID:27153395|PMID:27179933|PMID:27189670|PMID:27194209|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27267833|PMID:27276561|PMID:27297285|PMID:27328919|PMID:27372520|PMID:27374712|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27484708|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27626311|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27834926|PMID:27844328|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27959731|PMID:27978560|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28199989|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:28271309|PMID:28288110|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477317|PMID:28486781|PMID:28492532|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28772286|PMID:28776571|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29247016|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29456621|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29769598|PMID:29770616|PMID:29785153|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30067863|PMID:30076369|PMID:30092803|PMID:30093976|PMID:30107858|PMID:30128536|PMID:30181807|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30240537|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374 12119451 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31422574|PMID:31462179|PMID:31567591|PMID:31666926|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31843900|PMID:31881331|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32283892|PMID:32295079|PMID:32322110|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32566746|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32885271|PMID:32930885|PMID:33051313|PMID:33128190|PMID:33178583|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33471991|PMID:33635883|PMID:33818021|PMID:34198491|PMID:34240179|PMID:34452612|PMID:3471991|PMID:34739844|PMID:4122735|PMID:7565304|PMID:7599045|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8352280|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:920706|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9865903|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:19165225|PMID:19171880|PMID:19224462|PMID:19238535|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19558493|PMID:19581934|PMID:19671856|PMID:19681600|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21323968|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21900752|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22484423|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22829111|PMID:22866089|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22983585|PMID:23031740|PMID:23056405|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23315175|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24224046|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24374182|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24395441|PMID:24448499|PMID:24451277|PMID:24487276|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24835218|PMID:24853176 12119451 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256751|PMID:25293557|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:25422255|PMID:25428789|PMID:25452441|PMID:25460562|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25637381|PMID:25669829|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25923920|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26086041|PMID:26094658|PMID:26200271|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718692|PMID:26718964|PMID:26743472|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26876197|PMID:26878390|PMID:26900293|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27147571|PMID:27149858|PMID:27153395|PMID:27179933|PMID:27189670|PMID:27194209|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27267833|PMID:27276561|PMID:27297285|PMID:27328919|PMID:27372520|PMID:27374712|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27484708|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27626311|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27834926|PMID:27844328|PMID:27854218|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27959731|PMID:27978560|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28199989|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:28271309|PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477317|PMID:28486781|PMID:28492532|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28772286|PMID:28776571|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29174094|PMID:29247016|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29456621|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29769598|PMID:29770616|PMID:29785153|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30107858|PMID:30128536|PMID:30181807|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30240537|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255 12119451 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31422574|PMID:31462179|PMID:31567591|PMID:31666926|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31843900|PMID:31881331|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32283892|PMID:32295079|PMID:32322110|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32566746|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32885271|PMID:32916163|PMID:32930885|PMID:33051313|PMID:33128190|PMID:33178583|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33471991|PMID:33580201|PMID:33635883|PMID:33818021|PMID:34198491|PMID:34240179|PMID:34390506|PMID:34452612|PMID:3471991|PMID:34739844|PMID:4122735|PMID:7565304|PMID:7599045|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8352280|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:920706|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9865903|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10064694|PMID:10097082|PMID:10206274|PMID:10229196|PMID:10329187|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10449408|PMID:10477429|PMID:10484981|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10570149|PMID:10589545|PMID:10606817|PMID:10616528|PMID:10653977|PMID:10654936|PMID:10673500|PMID:10706125|PMID:10713666|PMID:10719737|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10777217|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10901165|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11124955|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11229518|PMID:11254385|PMID:11285227|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11403041|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11453810|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668476|PMID:11715068|PMID:11753428|PMID:11756653|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12067251|PMID:12070601|PMID:12124823|PMID:12170762|PMID:12209975|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619103|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12716906|PMID:12726864|PMID:12759621|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:1394133|PMID:14559903|PMID:14584079|PMID:14612556|PMID:14639659|PMID:14670539|PMID:14673037|PMID:1467311|PMID:14965603|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15221755|PMID:15308588|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15469940|PMID:15489903|PMID:15541116|PMID:15548685|PMID:15564800|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:15611070|PMID:15611505|PMID:1562462|PMID:15630097|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15781632|PMID:15784129|PMID:1581912|PMID:15825182|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16173033|PMID:16199547|PMID:16199549|PMID:16204849|PMID:16209708|PMID:16229746|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16477330|PMID:16487937|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16522644|PMID:16534790|PMID:16551709|PMID:16596195|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:16723121|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17121789|PMID:17133269|PMID:17170001|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17401432|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17591842|PMID:17599946|PMID:17606709|PMID:17627286|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17875924|PMID:17903248|PMID:17947339|PMID:17982662|PMID:18037961|PMID:18094375|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18348285 12119451 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18348286|PMID:18391940|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18563462|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18762572|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:18923936|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19165225|PMID:19171880|PMID:1918170|PMID:19224462|PMID:19238535|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19558493|PMID:19558684|PMID:19671856|PMID:19681600|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:19958544|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20589832|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21323968|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21878961|PMID:21900752|PMID:21904608|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22446329|PMID:22484423|PMID:22495821|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22553421|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22829111|PMID:22862161|PMID:22866089|PMID:22877736|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22949826|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23056405|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23406775|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23863845|PMID:23887774|PMID:23894400|PMID:23897043 12119451 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23950206|PMID:23967324|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24219989|PMID:24224046|PMID:24251760|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24373500|PMID:24374182|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24448499|PMID:24451277|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24733378|PMID:24744791|PMID:24763289|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24835218|PMID:24835311|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25047674|PMID:25056374|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256751|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:25422255|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25460562|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25730903|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26029016|PMID:26066407|PMID:26070072|PMID:26086041|PMID:26094658|PMID:26181206|PMID:26200271|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26723900|PMID:26743472|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26851285|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27147571|PMID:27149858|PMID:27153395|PMID:27157322|PMID:27179933|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27328919|PMID:27341992|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27484708|PMID:27493922|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27741277|PMID:27785980|PMID:27834926|PMID:27844328|PMID:27854218|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27930734|PMID:27959731|PMID:27978560|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:2826609|PMID:28271309|PMID:28279309|PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373 12119451 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28772286|PMID:28772290|PMID:28776571|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961258|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29189820|PMID:29247016|PMID:29263802|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29844874|PMID:29847298|PMID:29875428|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30262806|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30883245|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31212162|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31365877|PMID:31422574|PMID:31462179|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31742824|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31843900|PMID:31881331|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32566746|PMID:32658311|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32854451|PMID:32885271|PMID:32899294|PMID:32916163|PMID:32930885|PMID:32994724|PMID:33011440|PMID:33047316|PMID:33051313|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33230179|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33635883|PMID:33758026|PMID:33818021|PMID:34026625|PMID:34095982|PMID:34099776|PMID:34198491|PMID:34240179|PMID:34299313|PMID:34308366|PMID:34390506|PMID:34452612|PMID:34504096|PMID:34529667|PMID:34539758|PMID:3471991|PMID:34739844|PMID:34906512|PMID:34961499|PMID:35050731|PMID:35886069|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7599045|PMID:7651740|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7731702|PMID:7732013|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8352280|PMID:8364550|PMID:8378080|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479743|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8649785|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920 12119451 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9467949|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965 12119451 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10064694|PMID:10097082|PMID:10206274|PMID:10229196|PMID:10329187|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10449408|PMID:10477429|PMID:10484981|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10570149|PMID:10589545|PMID:10606817|PMID:10616528|PMID:10653977|PMID:10654936|PMID:10673500|PMID:10706125|PMID:10713666|PMID:10719737|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10777217|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10901165|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11124955|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11229518|PMID:11254385|PMID:11285227|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11403041|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11453810|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668476|PMID:11668501|PMID:11715068|PMID:11753428|PMID:11756653|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12067251|PMID:12070601|PMID:12124823|PMID:12170762|PMID:12209975|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619103|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12716906|PMID:12726864|PMID:12759621|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:1394133|PMID:14559903|PMID:14584079|PMID:14587098|PMID:14612556|PMID:14639659|PMID:14670539|PMID:14673037|PMID:1467311|PMID:14965603|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15221755|PMID:15308588|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15469940|PMID:15489903|PMID:15541116|PMID:15548685|PMID:15564800|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:15611070|PMID:15611505|PMID:1562462|PMID:15630097|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15781632|PMID:15784129|PMID:1581912|PMID:15825182|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16173033|PMID:16199547|PMID:16199549|PMID:16204849|PMID:16209708|PMID:16229746|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16477330|PMID:16487937|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16522644|PMID:16534790|PMID:16551709|PMID:16596195|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:16723121|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17121789|PMID:17133269|PMID:17170001|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17401432|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17591842|PMID:17599946|PMID:17606709|PMID:17627286|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17875924|PMID:17903248|PMID:17947339|PMID:17982662|PMID:18037961|PMID:18094375|PMID:18199664|PMID:18208484|PMID:18248785 12119451 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18307025|PMID:18348285|PMID:18348286|PMID:18391940|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18563462|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18762572|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:18923936|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19165225|PMID:19171880|PMID:1918170|PMID:19224462|PMID:19238535|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19558493|PMID:19558684|PMID:19671856|PMID:19681600|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:19958544|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20030809|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20234365|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20589832|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21323968|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21878961|PMID:21900752|PMID:21904608|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22446329|PMID:22484423|PMID:22495821|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22553421|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22829111|PMID:22862161|PMID:22866089|PMID:22877736|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22949826|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23056405|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23406775|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673 12119451 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23792586|PMID:23863845|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24219989|PMID:24224046|PMID:24251760|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24373500|PMID:24374182|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24448499|PMID:24451277|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24733378|PMID:24744791|PMID:24763289|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24835218|PMID:24835311|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25047674|PMID:25056374|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256751|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:25422255|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25460562|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25730903|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26029016|PMID:26066407|PMID:26070072|PMID:26086041|PMID:26094658|PMID:26181206|PMID:26200271|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26723900|PMID:26743472|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26851285|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27147571|PMID:27149858|PMID:27153395|PMID:27157322|PMID:27179933|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27328919|PMID:27341992|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27484708|PMID:27489289|PMID:27493922|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27642012|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27741277|PMID:27785980|PMID:27834926|PMID:27844328|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27930734|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:2826609|PMID:28271309|PMID:28279309 12119451 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28772286|PMID:28772290|PMID:28776571|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28826481|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961258|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29189820|PMID:29247016|PMID:29263802|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29652801|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29844874|PMID:29847298|PMID:29875428|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30154229|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30262806|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30883245|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31212162|PMID:31265190|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31365877|PMID:31422574|PMID:31462179|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31742824|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31843900|PMID:31881331|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32566746|PMID:32658311|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32854451|PMID:32885271|PMID:32899294|PMID:32916163|PMID:32930885|PMID:32994724|PMID:33011440|PMID:33047316|PMID:33051313|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33230179|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33635883|PMID:33758026|PMID:33818021|PMID:34026625|PMID:34095982|PMID:34099776|PMID:34198491|PMID:34240179|PMID:34264394|PMID:34299313|PMID:34308366|PMID:34390506|PMID:34452612|PMID:34504096|PMID:34529667|PMID:34539758|PMID:3471991|PMID:34739844|PMID:34805717|PMID:34906512|PMID:34961499|PMID:34994652|PMID:35050731|PMID:35886069|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7599045|PMID:7651740|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7731702|PMID:7732013|PMID:7737263|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8352280 12119451 TP53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:8364550|PMID:8378080|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479743|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8649785|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9467949|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965 12119451 TP53 tumor protein p53 gene DOID:9007150 Urogenital Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17300232 12119451 TP53 tumor protein p53 gene DOID:9007188 Liver Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12378512|PMID:16410370 12119451 TP53 tumor protein p53 gene DOID:9007364 Mouth Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19435901 12119451 TP53 tumor protein p53 gene DOID:9007364 Mouth Neoplasms ISO RGD:11440 D RGD:9068941 20200609 RGD PMID:16778087|REF_RGD_ID:8547873 12119451 TP53 tumor protein p53 gene DOID:9007364 Mouth Neoplasms ISO RGD:3889 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:oral epithelium PMID:17595763|REF_RGD_ID:2290572 12119451 TP53 tumor protein p53 gene DOID:9007364 Mouth Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24224046 12119451 TP53 tumor protein p53 gene DOID:9007400 Lip Neoplasms ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:17238970|REF_RGD_ID:8662391 12119451 TP53 tumor protein p53 gene DOID:9007456 Female Infertility ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22532853 12119451 TP53 tumor protein p53 gene DOID:9007502 Brain Neoplasms ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Brain neoplasm | ClinVar Annotator: match by term: Neoplasm of brain PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:2259385|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25294809|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745 12119451 TP53 tumor protein p53 gene DOID:9007502 Brain Neoplasms ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Brain neoplasm | ClinVar Annotator: match by term: Neoplasm of brain PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9979965 12119451 TP53 tumor protein p53 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22009531 12119451 TP53 tumor protein p53 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15550242 12119451 TP53 tumor protein p53 gene DOID:9007661 Dwarfism ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Short stature PMID:11051239|PMID:11782540|PMID:12826609|PMID:1631137|PMID:16489069|PMID:16818505|PMID:17417627|PMID:17427234|PMID:17606709|PMID:19378321|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20522432|PMID:21059199|PMID:21343334|PMID:21519010|PMID:21601526|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:23172776|PMID:23246812|PMID:23667202|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29979965|PMID:30224644|PMID:30327374|PMID:31775759|PMID:36988593|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9242456|PMID:9598730|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:9007701 Central Nervous System Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 12119451 TP53 tumor protein p53 gene DOID:9007715 Endometrial Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7955072 12119451 TP53 tumor protein p53 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3889 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:18317410|REF_RGD_ID:2290554 12119451 TP53 tumor protein p53 gene DOID:9007964 Arsenic Poisoning ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18621066|PMID:19203779 12119451 TP53 tumor protein p53 gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:10432928|PMID:10589545|PMID:10922393|PMID:11668501|PMID:12826609|PMID:14559903|PMID:15037740|PMID:1565143|PMID:15977174|PMID:16312222|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17390010|PMID:17606709|PMID:18307025|PMID:19101993|PMID:19367569|PMID:19556618|PMID:20028212|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:20805372|PMID:21056685|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21514416|PMID:21761402|PMID:22265402|PMID:22887876|PMID:22923379|PMID:23031740|PMID:23259501|PMID:23630318|PMID:24381225|PMID:24487413|PMID:24603336|PMID:24641375|PMID:24702488|PMID:24744791|PMID:25584008|PMID:25741868|PMID:25945745|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26911350|PMID:27328919|PMID:27714481|PMID:27873457|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28492532|PMID:28724667|PMID:28975465|PMID:29070607|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30730202|PMID:30816478|PMID:31300551|PMID:31775759|PMID:32817165|PMID:33300245|PMID:33471991|PMID:36988593|PMID:7887414|PMID:8023157|PMID:8118819|PMID:8242631|PMID:8401536|PMID:8633021|PMID:9242456|PMID:9627118|PMID:9662334 12119451 TP53 tumor protein p53 gene DOID:9008138 Ductal Carcinoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 12119451 TP53 tumor protein p53 gene DOID:9008443 Colorectal Neoplasms ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22983585|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23340422|PMID:23406775|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25294809|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25757876 12119451 TP53 tumor protein p53 gene DOID:9008443 Colorectal Neoplasms ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9493073 12119451 TP53 tumor protein p53 gene DOID:9008828 Li-Fraumeni-Like Syndrome ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-fraumeni-like syndrome PMID:10519380|PMID:10922393|PMID:11370630|PMID:11429705|PMID:11782540|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:16401470|PMID:16494995|PMID:16551709|PMID:1679237|PMID:16818505|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18511570|PMID:19012332|PMID:19468865|PMID:19930417|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:20805372|PMID:21059199|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22672556|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24033266|PMID:24122735|PMID:24573247|PMID:24835218|PMID:25157968|PMID:25186627|PMID:2531845|PMID:2554494|PMID:25584008|PMID:25619955|PMID:25741868|PMID:25896519|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26585234|PMID:26619011|PMID:26786923|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27077130|PMID:27276561|PMID:27276934|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28975465|PMID:29581140|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30816478|PMID:32000721|PMID:32475984|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:7791795|PMID:8023157|PMID:8134127|PMID:8164043|PMID:8401536|PMID:8550239|PMID:8718514|PMID:8829627|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9667734|PMID:9839505 12119451 TP53 tumor protein p53 gene DOID:9008939 Breast Neoplasms ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:10064694|PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11222779|PMID:11313981|PMID:11315715|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668501|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15741269|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16033918|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18391940|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:19717094|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23469205|PMID:23538418|PMID:23570263|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23733769|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587 12119451 TP53 tumor protein p53 gene DOID:9008939 Breast Neoplasms ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:24122735|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24884479|PMID:24936644|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681051|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27153395|PMID:27179933|PMID:27223487|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28271309|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28756477|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31278746|PMID:31300551|PMID:31494577|PMID:31559875|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:33178583|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33635883|PMID:33758026|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9839505|PMID:9979965 12119451 TP53 tumor protein p53 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.R72P PMID:18230179|REF_RGD_ID:2290534 12119451 TP53 tumor protein p53 gene DOID:9008952 Breast Cancer, Familial ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:10064694|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10449408|PMID:10486318|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11254385|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11756653|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12067251|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12917626|PMID:14559903|PMID:15004724|PMID:15037740|PMID:15221755|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15722483|PMID:15781620|PMID:1581912|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16007150|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:1679237|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17133269|PMID:17308077|PMID:17311302|PMID:17318340|PMID:17390010|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:18762572|PMID:18818522|PMID:18989156|PMID:19101993|PMID:19127115|PMID:19336573|PMID:19367569|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19756158|PMID:1975675|PMID:1978757|PMID:19881536|PMID:19909015|PMID:19930417|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20504876|PMID:20505364|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21080251|PMID:21187651|PMID:21225465|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348641|PMID:21356188|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21761402|PMID:21934104|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22507745|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23175693|PMID:23246812|PMID:23255406|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23580068|PMID:23612969|PMID:23624782|PMID:23630318|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23897043|PMID:24033266|PMID:24076587|PMID:24122735|PMID:24278325|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24665023|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24729566|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24835218|PMID:24936644|PMID:25123297|PMID:25157968|PMID:25184754|PMID:25186627|PMID:25293557|PMID:25299233|PMID:2531845|PMID:25326637|PMID:25348012|PMID:25490274|PMID:25490678|PMID:25516983|PMID:2554494|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25787918|PMID:25886176|PMID:25896519|PMID:25925845|PMID:25952993|PMID:25980754|PMID:26000489|PMID:26014290|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26484312|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27059324|PMID:27101868|PMID:27146902|PMID:27153395|PMID:27210295|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27449771|PMID:27463065|PMID:27501770|PMID:27516001|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27726232|PMID:27741277|PMID:27866339|PMID:27895058|PMID:27923552|PMID:27959731|PMID:27993330|PMID:28091804|PMID:28152038|PMID:28230820|PMID:28349240|PMID:28369373 12119451 TP53 tumor protein p53 gene DOID:9008952 Breast Cancer, Familial ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:28453743|PMID:28472496|PMID:28477317|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28573494|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29059199|PMID:29070607|PMID:29079597|PMID:29300620|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30067863|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30588330|PMID:30607672|PMID:30653764|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32554555|PMID:32566746|PMID:32658383|PMID:33208383|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33818021|PMID:34299313|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7706467|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7887414|PMID:7966399|PMID:7978053|PMID:7981076|PMID:8023157|PMID:8062826|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242752|PMID:8308926|PMID:8378080|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8675009|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9067756|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9470817|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9839505|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:9119 acute myeloid leukemia ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:10411893|PMID:10432928|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11315715|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12567188|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15580553|PMID:15607980|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:18307025|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:19101993|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19521721|PMID:19556618|PMID:19681600|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19930417|PMID:1999338|PMID:20013323|PMID:20017945|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21672450|PMID:21761402|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22540896|PMID:22553421|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22862161|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23196062|PMID:23246812|PMID:23265383|PMID:23334668|PMID:23538418|PMID:23612969|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23887774|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26066407|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27022024|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27501770|PMID:27533082|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28271309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31559875|PMID:31748977|PMID:31775759|PMID:31882575 12119451 TP53 tumor protein p53 gene DOID:9119 acute myeloid leukemia ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:32000721|PMID:32295079|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33635883|PMID:35938033|PMID:36988593|PMID:7732013|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8336941|PMID:8344492|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8829653|PMID:9047394|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9662334|PMID:9825943|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:25412846|REF_RGD_ID:11057925 12119451 TP53 tumor protein p53 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:mutation: : PMID:24836762|REF_RGD_ID:11073714 12119451 TP53 tumor protein p53 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:25573287|REF_RGD_ID:11075071 12119451 TP53 tumor protein p53 gene DOID:9256 colorectal cancer ISO RGD:70502 D RGD:7240710 20200226 OMIM 12119451 TP53 tumor protein p53 gene DOID:9256 colorectal cancer ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10411893|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11370630|PMID:11479205|PMID:11782540|PMID:12007217|PMID:12509279|PMID:12524418|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:15004724|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16007150|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17540308|PMID:17606709|PMID:17636407|PMID:17727479|PMID:18391940|PMID:18511570|PMID:19012332|PMID:19127115|PMID:19468865|PMID:19556618|PMID:19881536|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20516128|PMID:20522432|PMID:20658636|PMID:20689556|PMID:20693561|PMID:21059199|PMID:21187651|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23667851|PMID:23792586|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24594805|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24803582|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25348012|PMID:25584008|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29753700|PMID:29770616|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30607672|PMID:30816478|PMID:31775759|PMID:32000721|PMID:32019277|PMID:32566746|PMID:33309985|PMID:33397043|PMID:33818021|PMID:3471991|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8134126|PMID:8164043|PMID:8401536|PMID:8423216|PMID:8550239|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9667734 12119451 TP53 tumor protein p53 gene DOID:9256 colorectal cancer ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16007150|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17727479|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21187651|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667851|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24594805|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24803582|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25186627|PMID:25348012|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29753700|PMID:29770616|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30607672|PMID:30816478|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32475984|PMID:32566746|PMID:32658383|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33818021|PMID:34299313|PMID:3471991|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:9256 colorectal cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16007150|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17727479|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21187651|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667851|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24594805|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24803582|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25186627|PMID:25348012|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29753700|PMID:29770616|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30607672|PMID:30816478|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32475984|PMID:32566746|PMID:32658383|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33818021|PMID:34299313|PMID:3471991|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:9256 colorectal cancer no_association ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.P72R (human) PMID:29286614|REF_RGD_ID:14995500 12119451 TP53 tumor protein p53 gene DOID:9256 colorectal cancer treatment ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:29546074|REF_RGD_ID:14995449 12119451 TP53 tumor protein p53 gene DOID:9261 nasopharynx carcinoma ISO RGD:70502 D RGD:7240710 20180130 OMIM 12119451 TP53 tumor protein p53 gene DOID:9261 nasopharynx carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Nasopharyngeal carcinoma PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:1631151|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8344492|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 12119451 TP53 tumor protein p53 gene DOID:9538 multiple myeloma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:10064694|PMID:10411893|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15607980|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15925506|PMID:15951970|PMID:15993273|PMID:16258005|PMID:1631137|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:1673792|PMID:16793544|PMID:16818505|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17308077|PMID:1737852|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19147582|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20878954|PMID:21059199|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23264849|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23667202|PMID:23713777|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25293557|PMID:25294809|PMID:25339994|PMID:25428789|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:26014290|PMID:26022348|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26534844|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26781615|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27533082|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30306255|PMID:30322717|PMID:30327374|PMID:30583724|PMID:30630526|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32817165|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:36988593|PMID:7651740|PMID:7732013|PMID:7737263|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8364550|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:9020384|PMID:9096669|PMID:9157982|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9635828|PMID:9667734|PMID:9825943 12119451 TP53 tumor protein p53 gene DOID:9538 multiple myeloma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R72P(human) PMID:24611901|REF_RGD_ID:11073716 12119451 TP53 tumor protein p53 gene DOID:9538 multiple myeloma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:22261445|REF_RGD_ID:11073728 12119451 TP53 tumor protein p53 gene DOID:9538 multiple myeloma treatment ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:12745272|REF_RGD_ID:11075073 12119451 TP53 tumor protein p53 gene DOID:9655 oral mucosa leukoplakia ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:oral mucosa: PMID:23776093|REF_RGD_ID:8547855 12119451 TP53 tumor protein p53 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334668 12119451 Tp53 tumor protein p53 gene DOID:9655 oral mucosa leukoplakia ISO RGD:3889 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:12167434|REF_RGD_ID:8547871 12119475 QRICH2 glutamine rich 2 gene DOID:0111914 spermatogenic failure 35 ISO RGD:1604772 D RGD:7240710 20190315 OMIM 12119475 QRICH2 glutamine rich 2 gene DOID:0111914 spermatogenic failure 35 ISO RGD:1604772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 35 PMID:25741868|PMID:31110204|PMID:31292949 12119475 QRICH2 glutamine rich 2 gene DOID:630 genetic disease ISO RGD:1604772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:0050746 mantle cell lymphoma ISO RGD:1349908 D RGD:9068941 20200609 RGD protein:increased expression:mononuclear cell (human) PMID:16620968|REF_RGD_ID:11535021 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:0050902 medulloblastoma ISO RGD:1349908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16179254 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:0050908 myelodysplastic syndrome ISO RGD:1349908 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow, blood (human) PMID:24763007|REF_RGD_ID:11535028 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:0060318 acute promyelocytic leukemia severity ISO RGD:1349908 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow (human) PMID:18815192|REF_RGD_ID:11535037 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1349908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:1115 sarcoma ISO RGD:1349908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16179254 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:11198 DiGeorge syndrome ISO RGD:1349908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:1240 leukemia ISO RGD:1349908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16179254 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:1612 breast cancer ISO RGD:1349908 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:17624586|REF_RGD_ID:11535056 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:1909 melanoma ISO RGD:1349908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16179254 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:1909 melanoma ISO RGD:1349908 D RGD:9068941 20200609 RGD mRNA:increased expression:skin of body (human) PMID:27505074|PMID:9047241|REF_RGD_ID:11535038|REF_RGD_ID:11535062 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:3347 osteosarcoma severity ISO RGD:1349908 D RGD:9068941 20200609 RGD mRNA:increased expression:muscle tissue (human) PMID:22390931|REF_RGD_ID:11535057 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:3713 ovary adenocarcinoma severity ISO RGD:1349908 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:female gonad (human) PMID:18709641|REF_RGD_ID:11535054 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:3908 lung non-small cell carcinoma ISO RGD:1349908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16179254 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:3910 lung adenocarcinoma ISO RGD:1349908 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (human) PMID:27241212|REF_RGD_ID:11535020 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:4450 renal cell carcinoma ISO RGD:1349908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16179254 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:6039 uveal melanoma severity ISO RGD:1349908 D RGD:9068941 20200609 RGD mRNA:increased expression:uvea (human) PMID:27486988|REF_RGD_ID:11535039 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:630 genetic disease ISO RGD:1349908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:769 neuroblastoma severity ISO RGD:1349908 D RGD:9068941 20200609 RGD mRNA:increased expression:neural tissue (human) PMID:15240516|REF_RGD_ID:11535044 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:8552 chronic myeloid leukemia ISO RGD:1349908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17157168 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:8552 chronic myeloid leukemia ISO RGD:1349908 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell (human) PMID:20838376|REF_RGD_ID:11535035 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:8567 Hodgkin's lymphoma severity ISO RGD:1349908 D RGD:9068941 20200609 RGD mRNA:increased expression:lymphoid tissue (human) PMID:26044287|REF_RGD_ID:11060455 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:8692 myeloid leukemia severity ISO RGD:1349908 D RGD:9068941 20200609 RGD human cell line in a mouse model PMID:16103086|REF_RGD_ID:11535036 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1349908 D RGD:9068941 20200609 RGD associated with Down Syndrome;mRNA:increased expression:mononuclear cell (human) PMID:15180862|REF_RGD_ID:11535064 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1349908 D RGD:9068941 20200609 RGD protein:increased expression:mononuclear cell (human) PMID:16620968|REF_RGD_ID:11535021 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1349908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16179254 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:9119 acute myeloid leukemia ISO RGD:1349908 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow, mononuclear cell (human) PMID:20376794|REF_RGD_ID:11535023 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:9538 multiple myeloma ISO RGD:1349908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16179254 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:9538 multiple myeloma severity ISO RGD:1349908 D RGD:9068941 20200609 RGD associated with bortezomib treatment;mRNA:increased expression:bone marrow (human) PMID:24791872|REF_RGD_ID:11535030 12119495 PRAME PRAME nuclear receptor transcriptional regulator gene DOID:9952 acute lymphoblastic leukemia severity ISO RGD:1349908 D RGD:9068941 20200609 RGD mRNA:increased expression:blood (human) PMID:27275197|REF_RGD_ID:11535025 12119514 FAM98B family with sequence similarity 98 member B gene DOID:2717 Bloom syndrome ISO RGD:1606116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12119514 FAM98B family with sequence similarity 98 member B gene DOID:630 genetic disease ISO RGD:1606116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119514 FAM98B family with sequence similarity 98 member B gene DOID:9007799 Legius Syndrome ISO RGD:1606116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Legius syndrome PMID:21548021|PMID:22753041|PMID:28492532 12119514 FAM98B family with sequence similarity 98 member B gene DOID:9256 colorectal cancer ISO RGD:1606116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12119525 MYO1E myosin IE gene DOID:0080600 COVID-19 ISO RGD:1350355 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12119525 MYO1E myosin IE gene DOID:0111131 focal segmental glomerulosclerosis 6 ISO RGD:1350355 D RGD:7240710 20180130 OMIM 12119525 MYO1E myosin IE gene DOID:0111131 focal segmental glomerulosclerosis 6 ISO RGD:1350355 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 PMID:17576681|PMID:21756023|PMID:25741868|PMID:28492532|PMID:33532864|PMID:9536098 12119525 MYO1E myosin IE gene DOID:0111365 benign familial hematuria ISO RGD:1350355 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microscopic hematuria PMID:24033266|PMID:25741868|PMID:28492532 12119525 MYO1E myosin IE gene DOID:1184 nephrotic syndrome ISO RGD:1350355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:29127259 12119525 MYO1E myosin IE gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1350355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12119525 MYO1E myosin IE gene DOID:2717 Bloom syndrome ISO RGD:1350355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12119525 MYO1E myosin IE gene DOID:5419 schizophrenia ISO RGD:1350355 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12119525 MYO1E myosin IE gene DOID:557 kidney disease ISO RGD:1350355 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:24033266|PMID:25741868|PMID:28492532 12119525 MYO1E myosin IE gene DOID:630 genetic disease ISO RGD:1350355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12119525 MYO1E myosin IE gene DOID:9256 colorectal cancer ISO RGD:1350355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12119575 ECD ecdysoneless cell cycle regulator gene DOID:630 genetic disease ISO RGD:1604642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119593 TG thyroglobulin gene DOID:0050328 congenital hypothyroidism ISO RGD:735819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:10404833|PMID:11484898|PMID:14764776|PMID:15769978|PMID:16199547|PMID:16403815|PMID:17532758|PMID:19837936|PMID:20410234|PMID:21128992|PMID:21372558|PMID:23164529|PMID:25741868|PMID:2584351|PMID:28492532|PMID:7593451|PMID:8325944|PMID:9588493 12119593 TG thyroglobulin gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:735819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:12872253|PMID:23996628|PMID:28492532 12119593 TG thyroglobulin gene DOID:0060870 isolated growth hormone deficiency ISO RGD:3848 D RGD:9068941 20200609 RGD PMID:11089535|PMID:3366187|REF_RGD_ID:12880373|REF_RGD_ID:730133 12119593 TG thyroglobulin gene DOID:0112183 familial thyroid dyshormonogenesis ISO RGD:735819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid dyshormonogenesis 12119593 TG thyroglobulin gene DOID:0112187 thyroid dyshormonogenesis 3 ISO RGD:735819 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 3 | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 PMID:10199792|PMID:10403171|PMID:10404833|PMID:11484898|PMID:12915634|PMID:14657345|PMID:14764776|PMID:15579800|PMID:15611820|PMID:15769978|PMID:16187910|PMID:16187918|PMID:16199547|PMID:16403815|PMID:16477365|PMID:16720658|PMID:17033963|PMID:17244789|PMID:1752952|PMID:19339519|PMID:19438905|PMID:19837936|PMID:20410234|PMID:20447071|PMID:20981092|PMID:21128992|PMID:21372558|PMID:21900383|PMID:21958696|PMID:23164529|PMID:23455760|PMID:23457309|PMID:23535966|PMID:23933148|PMID:24033266|PMID:25741868|PMID:2584351|PMID:26595189|PMID:26742565|PMID:26777470|PMID:26813946|PMID:27373559|PMID:27498126|PMID:28492532|PMID:29590070|PMID:31042289|PMID:34248839|PMID:34780050|PMID:7593451|PMID:8094490|PMID:8325944|PMID:9588493 12119593 TG thyroglobulin gene DOID:0112187 thyroid dyshormonogenesis 3 susceptibility ISO RGD:735819 D RGD:7240710 20230505 OMIM 12119593 TG thyroglobulin gene DOID:10283 prostate cancer ISO RGD:735819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12119593 TG thyroglobulin gene DOID:12176 goiter ISO RGD:735819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24582622|PMID:8094490 12119593 TG thyroglobulin gene DOID:12176 goiter susceptibility ISO RGD:735819 D RGD:9068941 20200609 RGD associated with Hypothyroidism;DNA:deletion:exon PMID:1752952|REF_RGD_ID:1600141 12119593 TG thyroglobulin gene DOID:12361 Graves' disease ISO RGD:735819 D RGD:9068941 20200609 RGD PMID:14636875|REF_RGD_ID:8548606 12119593 TG thyroglobulin gene DOID:12361 Graves' disease ISO RGD:735819 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:intron:rs2256366, rs2687836 (human) PMID:22662162|REF_RGD_ID:8548643 12119593 TG thyroglobulin gene DOID:12361 Graves' disease ISO RGD:735819 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:95586|REF_RGD_ID:8548645 12119593 TG thyroglobulin gene DOID:12361 Graves' disease ISO RGD:735819 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 12119593 TG thyroglobulin gene DOID:12361 Graves' disease no_association ISO RGD:735819 D RGD:9068941 20200609 RGD DNA:SNPs:exon:multiple PMID:18656705|REF_RGD_ID:8548630 12119593 TG thyroglobulin gene DOID:12361 Graves' disease treatment ISO RGD:735819 D RGD:9068941 20200609 RGD DNA:SNP:exon PMID:17550957|REF_RGD_ID:8548644 12119593 TG thyroglobulin gene DOID:14264 benign neonatal seizures ISO RGD:735819 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 12119593 TG thyroglobulin gene DOID:1459 hypothyroidism ISO RGD:735819 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:25741868 12119593 TG thyroglobulin gene DOID:1459 hypothyroidism treatment ISO RGD:3848 D RGD:9068941 20211001 RGD PMID:16365524|REF_RGD_ID:150429798 12119593 TG thyroglobulin gene DOID:1596 depressive disorder ISO RGD:735819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30373627 12119593 TG thyroglobulin gene DOID:2030 anxiety disorder ISO RGD:735819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30373627 12119593 TG thyroglobulin gene DOID:417 autoimmune disease ISO RGD:735819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869686 12119593 TG thyroglobulin gene DOID:5426 primary ovarian insufficiency ISO RGD:735819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:16187910|PMID:28492532|PMID:31042289|PMID:8094490 12119593 TG thyroglobulin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast and ovarian cancer PMID:25741868 12119593 TG thyroglobulin gene DOID:630 genetic disease ISO RGD:735819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12119593 TG thyroglobulin gene DOID:7188 autoimmune thyroiditis ISO RGD:735819 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 PMID:10403171|PMID:10404833|PMID:11484898|PMID:12915634|PMID:14657345|PMID:14764776|PMID:15579800|PMID:15769978|PMID:16477365|PMID:19339519|PMID:19438905|PMID:19837936|PMID:20410234|PMID:21128992|PMID:21372558|PMID:21757724|PMID:23164529|PMID:23535966|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28942902|PMID:29590070|PMID:34248839|PMID:34780050|PMID:8325944|PMID:9588493 12119593 TG thyroglobulin gene DOID:7188 autoimmune thyroiditis susceptibility ISO RGD:735819 D RGD:7240710 20230505 OMIM 12119593 TG thyroglobulin gene DOID:9006101 Primary Ovarian Failure ISO RGD:735819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ovarian failure PMID:16187910|PMID:28492532|PMID:31042289|PMID:8094490 12119593 TG thyroglobulin gene DOID:9006205 Animal Disease Models ISO RGD:735819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30373627 12119593 TG thyroglobulin gene DOID:9007355 Hashimoto Disease ISO RGD:3848 D RGD:9068941 20200609 RGD PMID:3052944|REF_RGD_ID:8548647 12119593 TG thyroglobulin gene DOID:9007355 Hashimoto Disease ISO RGD:735819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30373627 12119593 TG thyroglobulin gene DOID:9007355 Hashimoto Disease ISO RGD:735819 D RGD:9068941 20200609 RGD PMID:14636875|PMID:21559421|REF_RGD_ID:8548606|REF_RGD_ID:8548607 12119593 TG thyroglobulin gene DOID:9007355 Hashimoto Disease no_association ISO RGD:735819 D RGD:9068941 20200609 RGD DNA:SNPs:exon:multiple PMID:18656705|REF_RGD_ID:8548630 12119593 TG thyroglobulin gene DOID:9007661 Dwarfism ISO RGD:3848 D RGD:9068941 20201211 RGD PMID:10760744|REF_RGD_ID:13605608 12119593 TG thyroglobulin gene DOID:9007661 Dwarfism ISO RGD:735819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24582622 12119593 TG thyroglobulin gene DOID:9007661 Dwarfism treatment ISO RGD:3848 D RGD:9068941 20211001 RGD PMID:16365524|REF_RGD_ID:150429798 12119649 DPY19L1 dpy-19 like C-mannosyltransferase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12119649 DPY19L1 dpy-19 like C-mannosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1603693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050453 lissencephaly ISO RGD:1601994 D RGD:9068941 20200609 RGD DNA:frameshift mutations, missense mutations, deletion:exon, intron:multiple PMID:17559086|REF_RGD_ID:11065022 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050557 congenital muscular dystrophy ISO RGD:1601994 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:15466003|PMID:17576681|PMID:17878207|PMID:17906881|PMID:18195152|PMID:18691338|PMID:19067344|PMID:19299310|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:24033266|PMID:24123366|PMID:25326635|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26908613|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:29555514|PMID:30961548|PMID:34324503|PMID:9536098 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1601994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29302074|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1601994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ISO RGD:1553166 D RGD:9068941 20220825 MouseDO OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1601994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0060041 autism spectrum disorder ISO RGD:1601994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1601994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1601994 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:11709191|PMID:12588800|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18330676|PMID:19299310|PMID:20215985|PMID:20816175|PMID:21361872|PMID:21447391|PMID:22323514|PMID:22522420|PMID:22554691|PMID:23326386|PMID:23689641|PMID:23894383|PMID:25390965|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:27391550|PMID:27493216|PMID:28424332|PMID:28492532|PMID:28688748|PMID:29302074|PMID:29555514|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33200426|PMID:9536098 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O ISO RGD:1601994 D RGD:7240710 20180130 OMIM 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O ISO RGD:1601994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 15 PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22419172|PMID:22522420|PMID:22554691|PMID:22819665|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:23894383|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27604308|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29096039|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:31872526|PMID:32115343|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0111229 congenital muscular dystrophy-dystroglycanopathy type A ISO RGD:1601994 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies PMID:11709191|PMID:12588800|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17559086|PMID:17878207|PMID:17881266|PMID:17906881|PMID:19299310|PMID:20816175|PMID:21447391|PMID:22323514|PMID:23326386|PMID:25741868|PMID:26013959|PMID:26908613|PMID:27391550|PMID:28492532 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 ISO RGD:1601994 D RGD:7240710 20190703 OMIM 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 ISO RGD:1601994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23894383|PMID:24033266|PMID:24123366|PMID:24282183|PMID:25333069|PMID:25390965|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:29555514|PMID:30961548|PMID:33144682|PMID:33200426|PMID:34324503|PMID:9536098 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1601994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0112374 muscular dystrophy-dystroglycanopathy ISO RGD:1601994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to dystroglycanopathy | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22819665|PMID:23326386|PMID:23453855|PMID:23689641|PMID:23894383|PMID:24282183|PMID:24731844|PMID:25390965|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29096039|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 ISO RGD:1601994 D RGD:7240710 20180130 OMIM 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 ISO RGD:1601994 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED PMID:11709191|PMID:12588800|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29555514|PMID:30961548|PMID:34324503|PMID:9536098 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:1059 intellectual disability ISO RGD:1601994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17878207|PMID:25741868|PMID:28492532 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:10908 hydrocephalus ISO RGD:1601994 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:25741868 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1601994 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:630 genetic disease ISO RGD:1601994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15466003|PMID:17576681|PMID:17906881|PMID:19299310|PMID:20816175|PMID:21447391|PMID:22323514|PMID:22554691|PMID:22819665|PMID:25741868|PMID:26467025|PMID:26908613|PMID:27391550|PMID:27493216|PMID:28424332|PMID:28492532|PMID:28688748|PMID:29096039|PMID:29555514|PMID:9536098 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:9001993 Retinitis Pigmentosa 76 ISO RGD:1601994 D RGD:7240710 20190315 OMIM 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:9001993 Retinitis Pigmentosa 76 ISO RGD:1601994 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 76 PMID:11709191|PMID:12588800|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:23326386|PMID:24033266|PMID:24123366|PMID:24282183|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28832562|PMID:9536098 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:9005603 Muscle Hypotonia ISO RGD:1601994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:9006534 Nervous System Malformations ISO RGD:1601994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:9007402 Gliosis ISO RGD:1553166 D RGD:9068941 20200609 RGD PMID:21970971|REF_RGD_ID:11532765 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:9281 phenylketonuria ISO RGD:1601994 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Phenylketonuria PMID:25741868 12119676 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:9884 muscular dystrophy ISO RGD:1601994 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutation, snp:exons, intron:multiple (human) PMID:17030669|REF_RGD_ID:1599152 12119702 NAALADL1 N-acetylated alpha-linked acidic dipeptidase like 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:732561 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12119702 NAALADL1 N-acetylated alpha-linked acidic dipeptidase like 1 gene DOID:1059 intellectual disability ISO RGD:732561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12119702 NAALADL1 N-acetylated alpha-linked acidic dipeptidase like 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732561 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12119702 NAALADL1 N-acetylated alpha-linked acidic dipeptidase like 1 gene DOID:2746 glycogen storage disease V ISO RGD:732561 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12119702 NAALADL1 N-acetylated alpha-linked acidic dipeptidase like 1 gene DOID:3070 high grade glioma ISO RGD:732561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12119702 NAALADL1 N-acetylated alpha-linked acidic dipeptidase like 1 gene DOID:630 genetic disease ISO RGD:732561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119726 ARHGEF7 Rho guanine nucleotide exchange factor 7 gene DOID:2222 factor X deficiency ISO RGD:736143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12119726 ARHGEF7 Rho guanine nucleotide exchange factor 7 gene DOID:630 genetic disease ISO RGD:736143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119764 KLHDC7A kelch domain containing 7A gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606164 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12119764 KLHDC7A kelch domain containing 7A gene DOID:630 genetic disease ISO RGD:1606164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119764 KLHDC7A kelch domain containing 7A gene DOID:9008939 Breast Neoplasms ISO RGD:1606164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12119769 LACTB lactamase beta gene DOID:0110935 nemaline myopathy 6 ISO RGD:1312433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12119769 LACTB lactamase beta gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1312433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12119769 LACTB lactamase beta gene DOID:2717 Bloom syndrome ISO RGD:1312433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12119769 LACTB lactamase beta gene DOID:630 genetic disease ISO RGD:1312433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119769 LACTB lactamase beta gene DOID:9256 colorectal cancer ISO RGD:1312433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12119769 LACTB lactamase beta gene DOID:9970 obesity ISO RGD:1312433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18344982 12119778 TTC13 tetratricopeptide repeat domain 13 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1320938 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 12119778 TTC13 tetratricopeptide repeat domain 13 gene DOID:1540 parathyroid carcinoma ISO RGD:1320938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12119778 TTC13 tetratricopeptide repeat domain 13 gene DOID:630 genetic disease ISO RGD:1320938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119778 TTC13 tetratricopeptide repeat domain 13 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1320938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 12119778 TTC13 tetratricopeptide repeat domain 13 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12119809 PLA2G12B phospholipase A2 group XIIB gene DOID:630 genetic disease ISO RGD:1351879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119819 TLCD3B TLC domain containing 3B gene DOID:0050572 cone-rod dystrophy ISO RGD:1332551 D RGD:9068941 20220825 MouseDO 12119819 TLCD3B TLC domain containing 3B gene DOID:0060019 coronin-1A deficiency ISO RGD:1605610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12119819 TLCD3B TLC domain containing 3B gene DOID:0060041 autism spectrum disorder ISO RGD:1605610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12119819 TLCD3B TLC domain containing 3B gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1605610 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12119819 TLCD3B TLC domain containing 3B gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1605610 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12119819 TLCD3B TLC domain containing 3B gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1605610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12119819 TLCD3B TLC domain containing 3B gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1605610 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12119819 TLCD3B TLC domain containing 3B gene DOID:12849 autistic disorder ISO RGD:1605610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12119819 TLCD3B TLC domain containing 3B gene DOID:1882 atrial heart septal defect ISO RGD:1605610 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12119819 TLCD3B TLC domain containing 3B gene DOID:5419 schizophrenia ISO RGD:1605610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12119819 TLCD3B TLC domain containing 3B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12119819 TLCD3B TLC domain containing 3B gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1605610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12119819 TLCD3B TLC domain containing 3B gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1605610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12119819 TLCD3B TLC domain containing 3B gene DOID:9007876 Cone-Rod Dystrophy 22 ISO RGD:1605610 D RGD:7240710 20210929 OMIM 12119819 TLCD3B TLC domain containing 3B gene DOID:9007876 Cone-Rod Dystrophy 22 ISO RGD:1605610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 22 PMID:33077892 12119826 IL19 interleukin 19 gene DOID:0050589 inflammatory bowel disease ISO RGD:1315107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:11121048|PMID:14657422|PMID:14657427|PMID:17576681|PMID:25741868|PMID:26193622|PMID:28492532|PMID:9536098 12119826 IL19 interleukin 19 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1315107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 12119826 IL19 interleukin 19 gene DOID:0081267 graft-versus-host disease ISO RGD:1315107 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Graft-versus-host disease, resistance to | ClinVar Annotator: match by term: Graft-versus-host disease, susceptibility to PMID:11121048|PMID:14657422|PMID:14657427|PMID:25741868|PMID:28492532 12119826 IL19 interleukin 19 gene DOID:1024 leprosy ISO RGD:1315107 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 PMID:28492532 12119826 IL19 interleukin 19 gene DOID:12849 autistic disorder ISO RGD:1315107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12119826 IL19 interleukin 19 gene DOID:14115 toxic shock syndrome ISO RGD:1315107 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18246602|REF_RGD_ID:5037232 12119826 IL19 interleukin 19 gene DOID:14115 toxic shock syndrome ISO RGD:1315108 D RGD:9068941 20200609 RGD PMID:18246602|REF_RGD_ID:5037232 12119826 IL19 interleukin 19 gene DOID:1540 parathyroid carcinoma ISO RGD:1315107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12119826 IL19 interleukin 19 gene DOID:2841 asthma ISO RGD:1315107 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15557163|REF_RGD_ID:5037236 12119826 IL19 interleukin 19 gene DOID:2841 asthma ISO RGD:1315108 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, serum PMID:15557163|REF_RGD_ID:5037236 12119826 IL19 interleukin 19 gene DOID:3388 periodontal disease ISO RGD:1583546 D RGD:9068941 20200609 RGD mRNA:increased expression:B cell PMID:20618701|REF_RGD_ID:5024938 12119826 IL19 interleukin 19 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1315107 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:11121048|PMID:14657422|PMID:14657427|PMID:25741868|PMID:28492532 12119826 IL19 interleukin 19 gene DOID:630 genetic disease ISO RGD:1315107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12119826 IL19 interleukin 19 gene DOID:7148 rheumatoid arthritis ISO RGD:1315107 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis, progression of PMID:12847677|PMID:25741868|PMID:28492532 12119826 IL19 interleukin 19 gene DOID:784 chronic kidney disease ISO RGD:1315107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24714768 12119826 IL19 interleukin 19 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1315107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18006695 12119826 IL19 interleukin 19 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1315107 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12119826 IL19 interleukin 19 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12119826 IL19 interleukin 19 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1315107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430480 12119833 CAPRIN1 cell cycle associated protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1313896 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12119833 CAPRIN1 cell cycle associated protein 1 gene DOID:1059 intellectual disability ISO RGD:1313896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12119833 CAPRIN1 cell cycle associated protein 1 gene DOID:630 genetic disease ISO RGD:1313896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119855 NALF2 NALCN channel auxiliary factor 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12119855 NALF2 NALCN channel auxiliary factor 2 gene DOID:12849 autistic disorder ISO RGD:1350785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12119855 NALF2 NALCN channel auxiliary factor 2 gene DOID:630 genetic disease ISO RGD:1350785 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:0050453 lissencephaly ISO RGD:1348575 D RGD:9068941 20200609 RGD DNA:insertions, deletions, missense mutations: :multiple PMID:17559086|REF_RGD_ID:11065022 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1348575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:23757202|PMID:24033266|PMID:25741868|PMID:28492532 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1348575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:11320179|PMID:12369018|PMID:14678799|PMID:15637732|PMID:15792865|PMID:16575835|PMID:17559086|PMID:17878207|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19299310|PMID:22323514|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32860008 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1348575 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:11053679|PMID:11320179|PMID:12369018|PMID:14678799|PMID:15637732|PMID:15792865|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17869517|PMID:17878207|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19299310|PMID:22323514|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31311558|PMID:32860008 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1348575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:11053679|PMID:11320179|PMID:12369018|PMID:14678799|PMID:15637732|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17869517|PMID:17878207|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19299310|PMID:20816175|PMID:22323514|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26467025|PMID:28097321|PMID:28492532|PMID:30426380|PMID:31311558|PMID:32860008 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1348575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:11053679|PMID:11320179|PMID:12369018|PMID:14678799|PMID:15637732|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17869517|PMID:17878207|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19299310|PMID:20816175|PMID:22323514|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26467025|PMID:28097321|PMID:28116189|PMID:28492532|PMID:30426380|PMID:31311558|PMID:32860008 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ISO RGD:1348575 D RGD:7240710 20180130 OMIM 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ISO RGD:1348575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1 PMID:11053679|PMID:12369018|PMID:14678799|PMID:15637732|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17869517|PMID:17878207|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19299310|PMID:20816175|PMID:22323514|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26467025|PMID:28097321|PMID:28116189|PMID:28492532|PMID:30426380|PMID:31311558|PMID:32860008 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:0050700 cardiomyopathy ISO RGD:1348575 D RGD:9068941 20200609 RGD associated with Muscular Dystrophies PMID:22549409|REF_RGD_ID:11069993 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1348575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:26467025|PMID:28182637|PMID:28492532 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1348575 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1348575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1348575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy PMID:16575835|PMID:25741868|PMID:28492532 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1348575 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:12369018|PMID:15522202|PMID:15637732|PMID:15733261|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16698797|PMID:17559086|PMID:22323514|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:28157257|PMID:28492532|PMID:31311558|PMID:32528171|PMID:35046417 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1348575 D RGD:7240710 20180130 OMIM 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1348575 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 11 PMID:11053679|PMID:12369018|PMID:14678799|PMID:15522202|PMID:15637732|PMID:15733261|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16698797|PMID:16717220|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:18414213|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19222032|PMID:19299310|PMID:19519795|PMID:19763152|PMID:20065251|PMID:20307669|PMID:20816175|PMID:21102627|PMID:22323514|PMID:22406018|PMID:22499106|PMID:22522420|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25267602|PMID:25326635|PMID:25741868|PMID:25898921|PMID:26245304|PMID:26467025|PMID:27066551|PMID:27159402|PMID:27193224|PMID:27884173|PMID:28097321|PMID:28116189|PMID:28157257|PMID:28182637|PMID:28492532|PMID:28556411|PMID:29101272|PMID:30060766|PMID:30426380|PMID:31311558|PMID:32528171|PMID:32860008|PMID:33146414|PMID:35046417|PMID:35769956|PMID:9536098 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1348575 D RGD:7240710 20190703 OMIM 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1348575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:11053679|PMID:11320179|PMID:12369018|PMID:14678799|PMID:15037715|PMID:15637732|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:18414213|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19222032|PMID:19299310|PMID:19519795|PMID:20065251|PMID:20816175|PMID:22323514|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25267602|PMID:25326635|PMID:25741868|PMID:25898921|PMID:26245304|PMID:26467025|PMID:27193224|PMID:27884173|PMID:28097321|PMID:28116189|PMID:28492532|PMID:28556411|PMID:30426380|PMID:31311558|PMID:31319225|PMID:32860008|PMID:9536098 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 ISO RGD:1348575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 PMID:12369018|PMID:15637732|PMID:16575835|PMID:25741868|PMID:28116189|PMID:28492532|PMID:31311558 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:1348575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:16575835|PMID:18647264|PMID:25741868|PMID:26467025|PMID:28492532 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:10908 hydrocephalus ISO RGD:1348575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:12369018|PMID:16575835|PMID:17559086|PMID:18640039|PMID:18752264|PMID:19299310|PMID:22323514|PMID:23757202|PMID:24304607|PMID:24491487|PMID:25741868|PMID:28492532|PMID:31311558|PMID:32860008 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1348575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:1826 epilepsy ISO RGD:1348575 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1348575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12369018|PMID:16575835|PMID:17559086|PMID:18640039|PMID:18752264|PMID:19299310|PMID:22323514|PMID:23757202|PMID:24304607|PMID:24491487|PMID:25741868|PMID:25954003|PMID:26467025|PMID:27618451|PMID:28490743|PMID:28492532|PMID:30060766|PMID:31311558|PMID:32528171|PMID:32860008 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868|PMID:28492532 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1348575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:14678799|PMID:15792865|PMID:17878207|PMID:25741868|PMID:28097321|PMID:28492532|PMID:30426380 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:9009131 Ventriculomegaly ISO RGD:1348575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:12369018|PMID:16575835|PMID:17559086|PMID:18640039|PMID:18752264|PMID:19299310|PMID:22323514|PMID:23757202|PMID:24304607|PMID:24491487|PMID:25741868|PMID:28492532|PMID:31311558|PMID:32860008 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:9296 cleft lip ISO RGD:1348575 D RGD:9068941 20200609 RGD associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon PMID:18640039|REF_RGD_ID:11532685 12119872 POMT1 protein O-mannosyltransferase 1 gene DOID:9884 muscular dystrophy ISO RGD:1348575 D RGD:9068941 20200609 RGD DNA:mutations: :multiple PMID:16575835|REF_RGD_ID:11532686 12119916 CMTM5 CKLF like MARVEL transmembrane domain containing 5 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1316008 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12119916 CMTM5 CKLF like MARVEL transmembrane domain containing 5 gene DOID:630 genetic disease ISO RGD:1316008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119916 CMTM5 CKLF like MARVEL transmembrane domain containing 5 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1316008 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 12119916 CMTM5 CKLF like MARVEL transmembrane domain containing 5 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316008 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12119925 ALKAL1 ALK and LTK ligand 1 gene DOID:12849 autistic disorder ISO RGD:1604440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12119925 ALKAL1 ALK and LTK ligand 1 gene DOID:5419 schizophrenia ISO RGD:1604440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12119925 ALKAL1 ALK and LTK ligand 1 gene DOID:630 genetic disease ISO RGD:1604440 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119937 MIEF1 mitochondrial elongation factor 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1604008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12119937 MIEF1 mitochondrial elongation factor 1 gene DOID:630 genetic disease ISO RGD:1604008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119952 GLIPR1L1 GLIPR1 like 1 gene DOID:630 genetic disease ISO RGD:1605255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119962 GALR3 galanin receptor 3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:735333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12119962 GALR3 galanin receptor 3 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:735333 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12119962 GALR3 galanin receptor 3 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:735333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12119962 GALR3 galanin receptor 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12119962 GALR3 galanin receptor 3 gene DOID:1470 major depressive disorder ISO RGD:735333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27940914 12119962 GALR3 galanin receptor 3 gene DOID:630 genetic disease ISO RGD:735333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119973 PCGF3 polycomb group ring finger 3 gene DOID:1856 cherubism ISO RGD:1344033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12119973 PCGF3 polycomb group ring finger 3 gene DOID:630 genetic disease ISO RGD:1344033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12119973 PCGF3 polycomb group ring finger 3 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1344033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 12119993 MZT1 mitotic spindle organizing protein 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:2300357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12119993 MZT1 mitotic spindle organizing protein 1 gene DOID:630 genetic disease ISO RGD:2300357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120002 HOXA11 homeobox A11 gene DOID:2213 hemorrhagic disease ISO RGD:735680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 12120002 HOXA11 homeobox A11 gene DOID:2256 osteochondrodysplasia ISO RGD:735680 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35253374 12120002 HOXA11 homeobox A11 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12120002 HOXA11 homeobox A11 gene DOID:557 kidney disease ISO RGD:735680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7596412 12120002 HOXA11 homeobox A11 gene DOID:630 genetic disease ISO RGD:735680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120002 HOXA11 homeobox A11 gene DOID:9001611 Urogenital Abnormalities ISO RGD:735680 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35253374 12120002 HOXA11 homeobox A11 gene DOID:9002496 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia ISO RGD:735680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24239177 12120002 HOXA11 homeobox A11 gene DOID:9002739 Female Urogenital Diseases ISO RGD:735680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 12120002 HOXA11 homeobox A11 gene DOID:9004998 Kyphoscoliosis ISO RGD:1564605 D RGD:9068941 20200609 RGD mRNA:decreased expression:verterbra PMID:18327665|REF_RGD_ID:11354896 12120002 HOXA11 homeobox A11 gene DOID:9006251 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 ISO RGD:735680 D RGD:7240710 20190320 OMIM 12120002 HOXA11 homeobox A11 gene DOID:9006251 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 ISO RGD:735680 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 PMID:11101832|PMID:25741868 12120002 HOXA11 homeobox A11 gene DOID:9006294 Congenital Limb Deformities ISO RGD:735680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7596412 12120002 HOXA11 homeobox A11 gene DOID:9006836 Contracture ISO RGD:735680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 12120002 HOXA11 homeobox A11 gene DOID:9007715 Endometrial Neoplasms ISO RGD:735680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16804899 12120002 HOXA11 homeobox A11 gene DOID:9827 radioulnar synostosis ISO RGD:735680 D RGD:9068941 20200609 RGD PMID:11101832|REF_RGD_ID:11353968 12120008 ARHGAP22 Rho GTPase activating protein 22 gene DOID:10316 pneumoconiosis ISO RGD:1316310 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 12120008 ARHGAP22 Rho GTPase activating protein 22 gene DOID:11372 megacolon ISO RGD:1316310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12120008 ARHGAP22 Rho GTPase activating protein 22 gene DOID:2843 long QT syndrome ISO RGD:1316310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12120008 ARHGAP22 Rho GTPase activating protein 22 gene DOID:5419 schizophrenia ISO RGD:1316310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12120008 ARHGAP22 Rho GTPase activating protein 22 gene DOID:630 genetic disease ISO RGD:1316310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120025 CENPW centromere protein W gene DOID:0080600 COVID-19 ISO RGD:1350206 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12120025 CENPW centromere protein W gene DOID:630 genetic disease ISO RGD:1350206 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120025 CENPW centromere protein W gene DOID:684 hepatocellular carcinoma ISO RGD:1350206 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12120032 NAT8 N-acetyltransferase 8 (putative) gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1350744 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12120032 NAT8 N-acetyltransferase 8 (putative) gene DOID:543 dystonia ISO RGD:1350744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12120032 NAT8 N-acetyltransferase 8 (putative) gene DOID:630 genetic disease ISO RGD:1350744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120032 NAT8 N-acetyltransferase 8 (putative) gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1350744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12120032 NAT8 N-acetyltransferase 8 (putative) gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12120044 MIR676 microRNA mir-676 gene DOID:12849 autistic disorder ISO RGD:4888781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12120084 MIR449B microRNA mir-449b gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12120131 LEP leptin gene DOID:0050741 alcohol dependence ISO RGD:69123 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:29912265|REF_RGD_ID:21201248 12120131 LEP leptin gene DOID:0050848 obstructive sleep apnea ISO RGD:69123 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18606530|REF_RGD_ID:5128817 12120131 LEP leptin gene DOID:0060318 acute promyelocytic leukemia ISO RGD:69123 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 12120131 LEP leptin gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:69124 D RGD:9068941 20220825 MouseDO 12120131 LEP leptin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:3000 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;proteinLincreased expression:serum (human) PMID:20476641|REF_RGD_ID:25330346 12120131 LEP leptin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:3000 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus;protein:increased expression:serum (human) PMID:30052309|REF_RGD_ID:25330349 12120131 LEP leptin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24211274 12120131 LEP leptin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69123 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;proteinLincreased expression:serum (human) PMID:20476641|REF_RGD_ID:25330346 12120131 LEP leptin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69123 D RGD:9068941 20200609 RGD associated with Type 2 Diabetes Mellitus;protein:increased expression:plasma PMID:18713300|REF_RGD_ID:2311137 12120131 LEP leptin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69123 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus;protein:increased expression:serum (human) PMID:30052309|REF_RGD_ID:25330349 12120131 LEP leptin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69124 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;proteinLincreased expression:serum (human) PMID:20476641|REF_RGD_ID:25330346 12120131 LEP leptin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69124 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus;protein:increased expression:serum (human) PMID:30052309|REF_RGD_ID:25330349 12120131 LEP leptin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69124 D RGD:9068941 20220825 MouseDO OMIM:613282 | OMIM:613387 12120131 LEP leptin gene DOID:0111334 congenital leptin deficiency ISO RGD:69123 D RGD:7240710 20180130 OMIM 12120131 LEP leptin gene DOID:0111334 congenital leptin deficiency ISO RGD:69123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leptin dysfunction | ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency PMID:12393845|PMID:15070752|PMID:15472169|PMID:15937081|PMID:20140086|PMID:25551525|PMID:25741868|PMID:28209183|PMID:28377240|PMID:28492532|PMID:9202122|PMID:9500540|PMID:9745435 12120131 LEP leptin gene DOID:10591 pre-eclampsia ISO RGD:3000 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16021089|REF_RGD_ID:5128718 12120131 LEP leptin gene DOID:10603 glucose intolerance ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:22948215|REF_RGD_ID:12904911 12120131 LEP leptin gene DOID:10603 glucose intolerance ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21315688|PMID:24150608 12120131 LEP leptin gene DOID:10605 short bowel syndrome ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:19730157|REF_RGD_ID:5128624 12120131 LEP leptin gene DOID:10652 Alzheimer's disease ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20157255 12120131 LEP leptin gene DOID:10652 Alzheimer's disease ISO RGD:69123 D RGD:9068941 20200609 RGD compared to cortisol;protein:altered expression:plasma (human) PMID:9755363|REF_RGD_ID:10053632 12120131 LEP leptin gene DOID:10652 Alzheimer's disease treatment ISO RGD:3000 D RGD:9068941 20200609 RGD associated with Obesity PMID:25296496|REF_RGD_ID:10053617 12120131 LEP leptin gene DOID:10763 hypertension ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:20059648|REF_RGD_ID:5128597 12120131 LEP leptin gene DOID:10763 hypertension ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12050272|PMID:16827954|PMID:25205467|PMID:27226618 12120131 LEP leptin gene DOID:10763 hypertension ISO RGD:69123 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:19204185|REF_RGD_ID:5128788 12120131 LEP leptin gene DOID:10808 gastric ulcer ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10422768|PMID:11025360|PMID:11787760|PMID:15024038|PMID:16015682|PMID:18181030 12120131 LEP leptin gene DOID:11394 adult respiratory distress syndrome disease_progression ISO RGD:69123 D RGD:9068941 20200609 RGD respiratory system fluid/secretion PMID:21317313|REF_RGD_ID:5128773 12120131 LEP leptin gene DOID:11476 osteoporosis ISO RGD:3000 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:24250662|REF_RGD_ID:10053572 12120131 LEP leptin gene DOID:11476 osteoporosis ISO RGD:69123 D RGD:9068941 20200609 RGD associated with chronic obstructive pulmonary disease; protein:decreased expression:serum PMID:21376149|REF_RGD_ID:5128771 12120131 LEP leptin gene DOID:11476 osteoporosis treatment ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:12609558|REF_RGD_ID:10053615 12120131 LEP leptin gene DOID:11476 osteoporosis treatment ISO RGD:69123 D RGD:9068941 20200609 RGD human protein in a rat model PMID:11459801|REF_RGD_ID:10053630 12120131 LEP leptin gene DOID:11612 polycystic ovary syndrome ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22381227 12120131 LEP leptin gene DOID:1168 familial hyperlipidemia ISO RGD:3000 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver, adipose tissue (rat) PMID:17671736|REF_RGD_ID:10053616 12120131 LEP leptin gene DOID:11714 gestational diabetes ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20421132 12120131 LEP leptin gene DOID:11714 gestational diabetes ISO RGD:69123 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19269197|REF_RGD_ID:2311131 12120131 LEP leptin gene DOID:11981 morbid obesity ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15070752|PMID:9500540 12120131 LEP leptin gene DOID:12236 primary biliary cholangitis ISO RGD:69123 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:16093869|REF_RGD_ID:10411894 12120131 LEP leptin gene DOID:12849 autistic disorder ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17347881 12120131 LEP leptin gene DOID:12858 Huntington's disease ISO RGD:3000 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19573560|REF_RGD_ID:5128676 12120131 LEP leptin gene DOID:14018 alcoholic liver cirrhosis ISO RGD:3000 D RGD:9068941 20200609 RGD DNA:hypomethylation:promoter (human) PMID:29912265|REF_RGD_ID:21201248 12120131 LEP leptin gene DOID:14018 alcoholic liver cirrhosis ISO RGD:69123 D RGD:9068941 20200609 RGD DNA:hypomethylation:promoter (human) PMID:29912265|REF_RGD_ID:21201248 12120131 LEP leptin gene DOID:14018 alcoholic liver cirrhosis ISO RGD:69124 D RGD:9068941 20200609 RGD DNA:hypomethylation:promoter (human) PMID:29912265|REF_RGD_ID:21201248 12120131 LEP leptin gene DOID:14221 abdominal obesity-metabolic syndrome 1 ISO RGD:69124 D RGD:9068941 20220825 MouseDO OMIM:605552 12120131 LEP leptin gene DOID:14330 Parkinson's disease treatment ISO RGD:3000 D RGD:9068941 20200609 RGD rat protein in a mouse model PMID:17895242|REF_RGD_ID:10053631 12120131 LEP leptin gene DOID:1485 cystic fibrosis severity ISO RGD:69123 D RGD:9068941 20200609 RGD PMID:18353734|REF_RGD_ID:5128819 12120131 LEP leptin gene DOID:1612 breast cancer ISO RGD:69123 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16019138|REF_RGD_ID:8694425 12120131 LEP leptin gene DOID:1924 hypogonadism ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15070752|PMID:9500540 12120131 LEP leptin gene DOID:1924 hypogonadism treatment ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:21790658|REF_RGD_ID:10053622 12120131 LEP leptin gene DOID:2018 hyperinsulinism ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:22948215|REF_RGD_ID:12904911 12120131 LEP leptin gene DOID:2018 hyperinsulinism ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9826672 12120131 LEP leptin gene DOID:2048 autoimmune hepatitis ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 12120131 LEP leptin gene DOID:2841 asthma ISO RGD:69123 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19705789|REF_RGD_ID:5128781 12120131 LEP leptin gene DOID:2913 acute pancreatitis ISO RGD:3000 D RGD:9068941 20200609 RGD associated with fatty liver disease; protein:increased expression:serum: PMID:26634430|REF_RGD_ID:11552763 12120131 LEP leptin gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69123 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:20021311|REF_RGD_ID:5128778 12120131 LEP leptin gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69123 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21367591|REF_RGD_ID:5128772 12120131 LEP leptin gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:69123 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: -2548 G>A (human) PMID:20854423|REF_RGD_ID:5128777 12120131 LEP leptin gene DOID:3146 lipid metabolism disorder ISO RGD:3000 D RGD:9068941 20210924 RGD protein:increased expression:adipose tissue (rat) PMID:30550969|REF_RGD_ID:25330351 12120131 LEP leptin gene DOID:3908 lung non-small cell carcinoma ISO RGD:69123 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19033693|REF_RGD_ID:5128815 12120131 LEP leptin gene DOID:4195 hyperglycemia ISO RGD:69123 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:19716478|PMID:21561152|PMID:31313498|PMID:31483951 12120131 LEP leptin gene DOID:4450 renal cell carcinoma resistance ISO RGD:69123 D RGD:9068941 20200609 RGD PMID:19278051|REF_RGD_ID:6907119 12120131 LEP leptin gene DOID:4483 rhinitis ISO RGD:69123 D RGD:9068941 20200609 RGD PMID:19860581|REF_RGD_ID:5128850 12120131 LEP leptin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12120131 LEP leptin gene DOID:5016 hepatocellular clear cell carcinoma ISO RGD:69123 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:20723213|REF_RGD_ID:14696785 12120131 LEP leptin gene DOID:576 proteinuria ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25205467 12120131 LEP leptin gene DOID:6000 congestive heart failure ISO RGD:69124 D RGD:9068941 20200609 RGD PMID:18006469|REF_RGD_ID:5128823 12120131 LEP leptin gene DOID:630 genetic disease ISO RGD:69123 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120131 LEP leptin gene DOID:684 hepatocellular carcinoma severity ISO RGD:3000 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:18573568|REF_RGD_ID:25330348 12120131 LEP leptin gene DOID:684 hepatocellular carcinoma severity ISO RGD:69123 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:18573568|REF_RGD_ID:25330348 12120131 LEP leptin gene DOID:684 hepatocellular carcinoma severity ISO RGD:69124 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:18573568|REF_RGD_ID:25330348 12120131 LEP leptin gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:3000 D RGD:9068941 20200609 RGD DNA:SNP:enhancer:-2548G>A (rs7799039) (human) PMID:28452232|REF_RGD_ID:15039399 12120131 LEP leptin gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69123 D RGD:9068941 20200609 RGD DNA:SNP:enhancer:-2548G>A (rs7799039) (human) PMID:28452232|REF_RGD_ID:15039399 12120131 LEP leptin gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69124 D RGD:9068941 20200609 RGD DNA:SNP:enhancer:-2548G>A (rs7799039) (human) PMID:28452232|REF_RGD_ID:15039399 12120131 LEP leptin gene DOID:783 end stage renal disease ISO RGD:69123 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9294834|REF_RGD_ID:10053636 12120131 LEP leptin gene DOID:8398 osteoarthritis severity ISO RGD:69123 D RGD:9068941 20200609 RGD protein:increased expression:tibia, cartilage, chondrocyte (human) PMID:14613274|REF_RGD_ID:10053634 12120131 LEP leptin gene DOID:850 lung disease ISO RGD:69124 D RGD:9068941 20200609 RGD acute lung injury associated pancreatitis PMID:17589942|REF_RGD_ID:5128844 12120131 LEP leptin gene DOID:874 bacterial pneumonia ISO RGD:69124 D RGD:9068941 20200609 RGD PMID:11937559|REF_RGD_ID:5128871 12120131 LEP leptin gene DOID:8778 Crohn's disease ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21829567 12120131 LEP leptin gene DOID:9000039 Spinal Cord Injuries ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:19777863|REF_RGD_ID:5128780 12120131 LEP leptin gene DOID:9000808 Hypercholesterolemia ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:22948215|REF_RGD_ID:12904911 12120131 LEP leptin gene DOID:9000808 Hypercholesterolemia ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25086370 12120131 LEP leptin gene DOID:9000998 Brain Injuries ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:21276361|REF_RGD_ID:5128517 12120131 LEP leptin gene DOID:9001044 Choroidal Neovascularization ISO RGD:3000 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X;mRNA:increased expression:retina (rat) PMID:25380250|REF_RGD_ID:10053625 12120131 LEP leptin gene DOID:9001443 Hypercapnia ISO RGD:69123 D RGD:9068941 20200609 RGD associated with obesity PMID:11809994|REF_RGD_ID:5128875 12120131 LEP leptin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:20509998|REF_RGD_ID:5128589 12120131 LEP leptin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12586293|PMID:16097051|PMID:29248466 12120131 LEP leptin gene DOID:9001573 Experimental Liver Cirrhosis disease_progression ISO RGD:69124 D RGD:9068941 20200609 RGD PMID:19065677|REF_RGD_ID:5128713 12120131 LEP leptin gene DOID:9001981 Weight Loss ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27417254 12120131 LEP leptin gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:69124 D RGD:9068941 20200609 RGD PMID:17822444|REF_RGD_ID:5128869 12120131 LEP leptin gene DOID:9002165 Diabetic Nephropathies ISO RGD:69124 D RGD:9068941 20200609 RGD PMID:22773754|REF_RGD_ID:6907074 12120131 LEP leptin gene DOID:9002221 Hyperplasia ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27712037 12120131 LEP leptin gene DOID:9002231 Fetal Growth Retardation ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:21353474|REF_RGD_ID:5128507 12120131 LEP leptin gene DOID:9002304 Prostatic Neoplasms ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15042602 12120131 LEP leptin gene DOID:9002331 Knee Osteoarthritis ISO RGD:69123 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:23575542|REF_RGD_ID:10411887 12120131 LEP leptin gene DOID:9002457 Experimental Arthritis ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15142272 12120131 LEP leptin gene DOID:9002554 Tachycardia ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16827954 12120131 LEP leptin gene DOID:9002916 Hyperphagia ISO RGD:69123 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12177191|PMID:25086370|PMID:26186301|PMID:27071101 12120131 LEP leptin gene DOID:9002928 Colonic Neoplasms ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17354198 12120131 LEP leptin gene DOID:9002955 Nerve Degeneration ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17993459 12120131 LEP leptin gene DOID:9003287 Body Weight Changes ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:21328617|REF_RGD_ID:5128513 12120131 LEP leptin gene DOID:9003370 Dyslipidemias ISO RGD:3000 D RGD:9068941 20200609 RGD protein:altered expression: serum (rat) PMID:29089335|REF_RGD_ID:21410183 12120131 LEP leptin gene DOID:9003370 Dyslipidemias ISO RGD:69123 D RGD:9068941 20200609 RGD protein:altered expression: serum (rat) PMID:29089335|REF_RGD_ID:21410183 12120131 LEP leptin gene DOID:9003370 Dyslipidemias ISO RGD:69124 D RGD:9068941 20200609 RGD protein:altered expression: serum (rat) PMID:29089335|REF_RGD_ID:21410183 12120131 LEP leptin gene DOID:9003671 Hypoventilation ISO RGD:69123 D RGD:9068941 20200609 RGD Obesity Hypoventilation Syndrome PMID:16179823|REF_RGD_ID:5128870 12120131 LEP leptin gene DOID:9004009 Reperfusion Injury ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:21086559|REF_RGD_ID:5128549 12120131 LEP leptin gene DOID:9004017 Chronic Hepatitis C ISO RGD:3000 D RGD:9068941 20200609 RGD protein:altered localization:serum (human) PMID:11336170|REF_RGD_ID:21201249 12120131 LEP leptin gene DOID:9004017 Chronic Hepatitis C ISO RGD:69123 D RGD:9068941 20200609 RGD protein:altered localization:serum (human) PMID:11336170|REF_RGD_ID:21201249 12120131 LEP leptin gene DOID:9004017 Chronic Hepatitis C ISO RGD:69124 D RGD:9068941 20200609 RGD protein:altered localization:serum (human) PMID:11336170|REF_RGD_ID:21201249 12120131 LEP leptin gene DOID:9004484 Sepsis ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:18575315|REF_RGD_ID:5128818 12120131 LEP leptin gene DOID:9004657 Weight Gain ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15070752|PMID:15809509|PMID:17502770|PMID:19716478|PMID:21561152|PMID:23839791|PMID:25086370|PMID:27472835|PMID:29967158 12120131 LEP leptin gene DOID:9005005 Oral Ulcer ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16391412 12120131 LEP leptin gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:22246620|REF_RGD_ID:8694468 12120131 LEP leptin gene DOID:9005274 Polyuria ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25086370 12120131 LEP leptin gene DOID:9005369 Hepatomegaly ISO RGD:69123 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:19716478|PMID:27071101 12120131 LEP leptin gene DOID:9005372 Inflammation ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14599722|PMID:27712037 12120131 LEP leptin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:19491210|REF_RGD_ID:2311124 12120131 LEP leptin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69123 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:28242381|PMID:31313498|PMID:31483951 12120131 LEP leptin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69124 D RGD:9068941 20200609 RGD PMID:19428774|REF_RGD_ID:2311126 12120131 LEP leptin gene DOID:9005643 Experimental Diabetes Mellitus onset ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:20695765|REF_RGD_ID:5128579 12120131 LEP leptin gene DOID:9006223 Kidney Reperfusion Injury resistance ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:22969992|REF_RGD_ID:6909133 12120131 LEP leptin gene DOID:9006599 Hypertriglyceridemia ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:22948215|REF_RGD_ID:12904911 12120131 LEP leptin gene DOID:9006646 Metabolic Syndrome ISO RGD:3000 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:25380250|REF_RGD_ID:10053625 12120131 LEP leptin gene DOID:9006646 Metabolic Syndrome ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16793964|PMID:18515891 12120131 LEP leptin gene DOID:9006646 Metabolic Syndrome ISO RGD:69123 D RGD:9068941 20200609 RGD PMID:19462476|REF_RGD_ID:2311125 12120131 LEP leptin gene DOID:9006727 Polydipsia ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25086370 12120131 LEP leptin gene DOID:9007456 Female Infertility ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22265003 12120131 LEP leptin gene DOID:9007692 Insulin Resistance ISO RGD:3000 D RGD:9068941 20200609 RGD DNA:nonsense mutation:cds: PMID:23800849|REF_RGD_ID:8549777 12120131 LEP leptin gene DOID:9007692 Insulin Resistance ISO RGD:3000 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19296906|REF_RGD_ID:5128697 12120131 LEP leptin gene DOID:9007692 Insulin Resistance ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10753628|PMID:11342529|PMID:24150608 12120131 LEP leptin gene DOID:9007692 Insulin Resistance ISO RGD:69123 D RGD:9068941 20200609 RGD associated with Obesity PMID:19419916|REF_RGD_ID:2311127 12120131 LEP leptin gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:21122204|REF_RGD_ID:5128547 12120131 LEP leptin gene DOID:9007996 End Stage Liver Disease ISO RGD:3000 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:9640405|REF_RGD_ID:25330350 12120131 LEP leptin gene DOID:9007996 End Stage Liver Disease ISO RGD:69123 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:9640405|REF_RGD_ID:25330350 12120131 LEP leptin gene DOID:9007996 End Stage Liver Disease ISO RGD:69124 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:9640405|REF_RGD_ID:25330350 12120131 LEP leptin gene DOID:9008763 Femoral Fractures ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:21276361|REF_RGD_ID:5128517 12120131 LEP leptin gene DOID:9008939 Breast Neoplasms ISO RGD:69123 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:21353530|PMID:35191604 12120131 LEP leptin gene DOID:9351 diabetes mellitus ISO RGD:69123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 12120131 LEP leptin gene DOID:9352 type 2 diabetes mellitus ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:19289493|REF_RGD_ID:2311130 12120131 LEP leptin gene DOID:9352 type 2 diabetes mellitus ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15070752 12120131 LEP leptin gene DOID:9352 type 2 diabetes mellitus ISO RGD:69124 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 12120131 LEP leptin gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69123 D RGD:9068941 20200806 RGD DNA:SNP,haplotype:promoter,3'utr: -632G>A, +4998A>C (human) PMID:18564365|REF_RGD_ID:2311139 12120131 LEP leptin gene DOID:9452 fatty liver disease ISO RGD:69123 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:12661780|PMID:19716478|PMID:23839791|PMID:24525044|PMID:25554529|PMID:27071101|PMID:27712037 12120131 LEP leptin gene DOID:9452 fatty liver disease ISO RGD:69124 D RGD:9068941 20220825 MouseDO OMIM:228100 12120131 LEP leptin gene DOID:9452 fatty liver disease severity ISO RGD:3000 D RGD:9068941 20200609 RGD associated with morbid obesity;protein:decreased exprssion:serum (human) PMID:28281237|REF_RGD_ID:21201250 12120131 LEP leptin gene DOID:9452 fatty liver disease severity ISO RGD:69123 D RGD:9068941 20200609 RGD associated with morbid obesity;protein:decreased exprssion:serum (human) PMID:28281237|REF_RGD_ID:21201250 12120131 LEP leptin gene DOID:9452 fatty liver disease severity ISO RGD:69124 D RGD:9068941 20200609 RGD associated with morbid obesity;protein:decreased exprssion:serum (human) PMID:28281237|REF_RGD_ID:21201250 12120131 LEP leptin gene DOID:9970 obesity ISO RGD:69123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity PMID:25741868|PMID:28492532 12120131 LEP leptin gene DOID:9970 obesity no_association ISO RGD:69123 D RGD:9068941 20200609 RGD in a US Caucasian population PMID:15910756|REF_RGD_ID:1643130 12120131 LEP leptin gene DOID:9970 obesity treatment ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:23793169|REF_RGD_ID:10053638 12120131 LEP leptin gene DOID:9970 obesity treatment ISO RGD:69124 D RGD:9068941 20200609 RGD mouse protein in a rat model PMID:10029567|REF_RGD_ID:10053612 12120131 LEP leptin gene DOID:9976 heroin dependence ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15717844 12120131 Lep leptin gene DOID:0050741 alcohol dependence ISO RGD:3000 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:29912265|REF_RGD_ID:21201248 12120131 Lep leptin gene DOID:0050741 alcohol dependence ISO RGD:69124 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:29912265|REF_RGD_ID:21201248 12120150 DLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 gene DOID:0050553 JMP syndrome ISO RGD:1350485 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12120150 DLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 gene DOID:0080600 COVID-19 ISO RGD:1350485 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12120150 DLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 gene DOID:2841 asthma susceptibility ISO RGD:1350485 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs3916765(human) PMID:20159242|REF_RGD_ID:13506913 12120150 DLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1350485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 12120165 PLA2G4B phospholipase A2 group IVB gene DOID:2717 Bloom syndrome ISO RGD:1318557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12120165 PLA2G4B phospholipase A2 group IVB gene DOID:630 genetic disease ISO RGD:1318557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120165 PLA2G4B phospholipase A2 group IVB gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12120165 PLA2G4B phospholipase A2 group IVB gene DOID:9256 colorectal cancer ISO RGD:1318557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12120193 CADM2 cell adhesion molecule 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1313847 D RGD:9068941 20200609 RGD PMID:21996756|REF_RGD_ID:15092074 12120193 CADM2 cell adhesion molecule 2 gene DOID:3069 malignant astrocytoma severity ISO RGD:1313847 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:30816549|REF_RGD_ID:19165125 12120193 CADM2 cell adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1313847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120193 CADM2 cell adhesion molecule 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1313847 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:24240726|REF_RGD_ID:15092075 12120193 CADM2 cell adhesion molecule 2 gene DOID:768 retinoblastoma ISO RGD:1313847 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:retina PMID:30320366|REF_RGD_ID:15092072 12120193 CADM2 cell adhesion molecule 2 gene DOID:8893 psoriasis ISO RGD:1313847 D RGD:9068941 20200609 RGD PMID:21864505|REF_RGD_ID:15092073 12120193 CADM2 cell adhesion molecule 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1313847 D RGD:9068941 20200609 RGD DNA:SNP: :rs13078807 (human) PMID:28401323|REF_RGD_ID:15092076 12120193 CADM2 cell adhesion molecule 2 gene DOID:9970 obesity ISO RGD:1313847 D RGD:9068941 20200609 RGD DNA:SNP: :rs13078807 (human) PMID:31341224|REF_RGD_ID:15092077 12120212 BCR BCR activator of RhoGEF and GTPase gene DOID:0070004 myeloid neoplasm ISO RGD:1317506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22875613 12120212 BCR BCR activator of RhoGEF and GTPase gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1615754 D RGD:9068941 20210129 RGD BCR/ABL fusion PMID:9310467|REF_RGD_ID:41404633 12120212 BCR BCR activator of RhoGEF and GTPase gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:1317506 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:25741868|PMID:28492532 12120212 BCR BCR activator of RhoGEF and GTPase gene DOID:11198 DiGeorge syndrome ISO RGD:1317506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 12120212 BCR BCR activator of RhoGEF and GTPase gene DOID:1240 leukemia ISO RGD:1317506 D RGD:9068941 20200609 RGD PMID:11313935|REF_RGD_ID:11038780 12120212 BCR BCR activator of RhoGEF and GTPase gene DOID:5419 schizophrenia ISO RGD:1317506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12120212 BCR BCR activator of RhoGEF and GTPase gene DOID:630 genetic disease ISO RGD:1317506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120212 BCR BCR activator of RhoGEF and GTPase gene DOID:8552 chronic myeloid leukemia ISO RGD:1317506 D RGD:7240710 20180130 OMIM 12120212 BCR BCR activator of RhoGEF and GTPase gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:1317506 D RGD:9068941 20200609 RGD DNA:methylation: : PMID:7683349|REF_RGD_ID:11038783 12120212 BCR BCR activator of RhoGEF and GTPase gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:1317506 D RGD:9068941 20200609 RGD DNA:translocations:cds: PMID:2683759|REF_RGD_ID:11038776 12120212 BCR BCR activator of RhoGEF and GTPase gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:1317506 D RGD:9068941 20200609 RGD DNA:gene fusion PMID:3101769|REF_RGD_ID:1600510 12120212 BCR BCR activator of RhoGEF and GTPase gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:1317506 D RGD:9068941 20210129 RGD BCR/ABL fusion PMID:12613514|REF_RGD_ID:41404631 12120212 BCR BCR activator of RhoGEF and GTPase gene DOID:8692 myeloid leukemia IAGP D RGD:12801476 20230405 OMIA Leukaemia, chronic monocytic PMID:21143615|PMID:37009802 12120212 BCR BCR activator of RhoGEF and GTPase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12120212 BCR BCR activator of RhoGEF and GTPase gene DOID:9002170 Experimental Neoplasms ISO RGD:1317506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878872 12120212 BCR BCR activator of RhoGEF and GTPase gene DOID:9002473 Blast Crisis ISO RGD:1317506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21570118 12120212 BCR BCR activator of RhoGEF and GTPase gene DOID:9002867 Myeloid Leukemia, Chronic-Phase disease_progression ISO RGD:1317506 D RGD:9068941 20200609 RGD PMID:19344397|REF_RGD_ID:11038809 12120212 BCR BCR activator of RhoGEF and GTPase gene DOID:9005749 Necrosis ISO RGD:1317506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23211037 12120212 BCR BCR activator of RhoGEF and GTPase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1317506 D RGD:7240710 20230505 OMIM 12120239 MRPL12 mitochondrial ribosomal protein L12 gene DOID:0080600 COVID-19 ISO RGD:1343345 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12120239 MRPL12 mitochondrial ribosomal protein L12 gene DOID:0112113 combined oxidative phosphorylation deficiency 45 ISO RGD:1343345 D RGD:7240710 20200812 OMIM 12120239 MRPL12 mitochondrial ribosomal protein L12 gene DOID:0112113 combined oxidative phosphorylation deficiency 45 ISO RGD:1343345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 45 PMID:23603806 12120239 MRPL12 mitochondrial ribosomal protein L12 gene DOID:3910 lung adenocarcinoma ISO RGD:1343345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12120239 MRPL12 mitochondrial ribosomal protein L12 gene DOID:630 genetic disease ISO RGD:1343345 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12120239 MRPL12 mitochondrial ribosomal protein L12 gene DOID:9006205 Animal Disease Models ISO RGD:1343345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12120248 LOC613013 nascent polypeptide associated complex subunit alpha pseudogene gene DOID:0050777 Joubert syndrome ISO RGD:1605228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12120248 LOC613013 nascent polypeptide associated complex subunit alpha pseudogene gene DOID:11372 megacolon ISO RGD:1605228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12120248 LOC613013 nascent polypeptide associated complex subunit alpha pseudogene gene DOID:630 genetic disease ISO RGD:1605228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120256 CA6 carbonic anhydrase 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1323700 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12120256 CA6 carbonic anhydrase 6 gene DOID:630 genetic disease ISO RGD:1323700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120256 CA6 carbonic anhydrase 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12120274 CHMP5 charged multivesicular body protein 5 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1314312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12120274 CHMP5 charged multivesicular body protein 5 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1314312 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12120274 CHMP5 charged multivesicular body protein 5 gene DOID:0080600 COVID-19 ISO RGD:1314312 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12120274 CHMP5 charged multivesicular body protein 5 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1314312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12120274 CHMP5 charged multivesicular body protein 5 gene DOID:630 genetic disease ISO RGD:1314312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120274 CHMP5 charged multivesicular body protein 5 gene DOID:9119 acute myeloid leukemia ISO RGD:1314312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17708794 12120274 CHMP5 charged multivesicular body protein 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1314312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12120274 CHMP5 charged multivesicular body protein 5 gene DOID:9870 galactosemia ISO RGD:1314312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12120286 TSPAN33 tetraspanin 33 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12120286 TSPAN33 tetraspanin 33 gene DOID:630 genetic disease ISO RGD:1604171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120302 FGA fibrinogen alpha chain gene DOID:0050636 familial visceral amyloidosis ISO RGD:737209 D RGD:7240710 20180130 OMIM 12120302 FGA fibrinogen alpha chain gene DOID:0050636 familial visceral amyloidosis ISO RGD:737209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AFib amyloidosis | ClinVar Annotator: match by term: Amyloidosis 8 | ClinVar Annotator: match by term: Familial visceral amyloidosis PMID:10887149|PMID:10891444|PMID:10910940|PMID:12050338|PMID:12871326|PMID:14615374|PMID:16362348|PMID:16651864|PMID:17576681|PMID:17982313|PMID:19109585|PMID:19420351|PMID:19468208|PMID:22880226|PMID:237956|PMID:25741868|PMID:25816717|PMID:26763372|PMID:2738154|PMID:27684817|PMID:28101869|PMID:28211264|PMID:28492532|PMID:30332696|PMID:30349899|PMID:31064749|PMID:31924745|PMID:32166693|PMID:32877852|PMID:3345340|PMID:33668986|PMID:34355501|PMID:3590111|PMID:3618591|PMID:4052020|PMID:6191801|PMID:7298640|PMID:8097946|PMID:8113408|PMID:8473507|PMID:8636415|PMID:8639778|PMID:8944230|PMID:9389696|PMID:9536098 12120302 FGA fibrinogen alpha chain gene DOID:0060903 thrombosis ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8473507 12120302 FGA fibrinogen alpha chain gene DOID:0112313 brain small vessel disease ISO RGD:737209 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes PMID:17951283|REF_RGD_ID:5688761 12120302 FGA fibrinogen alpha chain gene DOID:10126 keratoconus ISO RGD:737209 D RGD:9068941 20200609 RGD protein:decreased expression:tear (human) PMID:24194634|REF_RGD_ID:11040557 12120302 FGA fibrinogen alpha chain gene DOID:11247 disseminated intravascular coagulation ISO RGD:2603 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (rat) PMID:23538169|REF_RGD_ID:10755508 12120302 FGA fibrinogen alpha chain gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:2603 D RGD:9068941 20200609 RGD PMID:22800895|REF_RGD_ID:10755509 12120302 FGA fibrinogen alpha chain gene DOID:11476 osteoporosis ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12120302 FGA fibrinogen alpha chain gene DOID:13580 cholestasis ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20974703 12120302 FGA fibrinogen alpha chain gene DOID:1588 thrombocytopenia ISO RGD:737209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:28492532 12120302 FGA fibrinogen alpha chain gene DOID:1588 thrombocytopenia treatment ISO RGD:2603 D RGD:9068941 20200609 RGD PMID:2005585|REF_RGD_ID:10755505 12120302 FGA fibrinogen alpha chain gene DOID:2213 hemorrhagic disease ISO RGD:737209 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:17982313|PMID:22880226|PMID:237956|PMID:25741868|PMID:25816717|PMID:2738154|PMID:27684817|PMID:28101869|PMID:28211264|PMID:28492532|PMID:30332696|PMID:31064749|PMID:31924745|PMID:32166693|PMID:32877852|PMID:3345340|PMID:33668986|PMID:3590111|PMID:3618591|PMID:4052020|PMID:6191801|PMID:7298640 12120302 FGA fibrinogen alpha chain gene DOID:2236 congenital afibrinogenemia ISO RGD:737209 D RGD:7240710 20180130 OMIM 12120302 FGA fibrinogen alpha chain gene DOID:2236 congenital afibrinogenemia ISO RGD:737209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Hypofibrinogenemia PMID:10602365|PMID:10605955|PMID:10887149|PMID:10891444|PMID:10910940|PMID:12050338|PMID:12358944|PMID:12871326|PMID:14615374|PMID:16362348|PMID:16651864|PMID:17576681|PMID:17982313|PMID:19109585|PMID:19420351|PMID:19468208|PMID:22880226|PMID:237956|PMID:23852822|PMID:25320241|PMID:25741868|PMID:25816717|PMID:26006300|PMID:26577257|PMID:26763372|PMID:27164460|PMID:2738154|PMID:27684817|PMID:28101869|PMID:28211264|PMID:28492532|PMID:30332696|PMID:30349899|PMID:30856382|PMID:31064749|PMID:31314131|PMID:31924745|PMID:32166693|PMID:32877852|PMID:3345340|PMID:33668986|PMID:34355501|PMID:3590111|PMID:3618591|PMID:4052020|PMID:6191801|PMID:7298640|PMID:8113408|PMID:8473507|PMID:8636415|PMID:8944230|PMID:9536098 12120302 FGA fibrinogen alpha chain gene DOID:2316 brain ischemia treatment ISO RGD:2603 D RGD:9068941 20200609 RGD PMID:22737923|REF_RGD_ID:11040923 12120302 FGA fibrinogen alpha chain gene DOID:2452 thrombophilia ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8473507 12120302 FGA fibrinogen alpha chain gene DOID:2452 thrombophilia ISO RGD:737209 D RGD:9068941 20200609 RGD DNA:polymorphism:p.T312A (human) PMID:10910940|REF_RGD_ID:1601167 12120302 FGA fibrinogen alpha chain gene DOID:2841 asthma treatment ISO RGD:2603 D RGD:9068941 20200609 RGD PMID:24523826|REF_RGD_ID:11040539 12120302 FGA fibrinogen alpha chain gene DOID:3021 acute kidney failure ISO RGD:2603 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:15805072|REF_RGD_ID:9685024 12120302 FGA fibrinogen alpha chain gene DOID:4989 pancreatitis ISO RGD:2603 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, rough endoplasmic reticulum PMID:19954227|REF_RGD_ID:5688770 12120302 FGA fibrinogen alpha chain gene DOID:557 kidney disease ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8097946|PMID:8639778 12120302 FGA fibrinogen alpha chain gene DOID:630 genetic disease ISO RGD:737209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12120302 FGA fibrinogen alpha chain gene DOID:684 hepatocellular carcinoma ISO RGD:737209 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 12120302 FGA fibrinogen alpha chain gene DOID:8778 Crohn's disease ISO RGD:737209 D RGD:9068941 20200609 RGD PMID:19683480|REF_RGD_ID:5688758 12120302 FGA fibrinogen alpha chain gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2603 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:23503399|REF_RGD_ID:9685021 12120302 FGA fibrinogen alpha chain gene DOID:9003464 Congenital Dysfibrinogenemia ISO RGD:737209 D RGD:7240710 20180130 OMIM 12120302 FGA fibrinogen alpha chain gene DOID:9003464 Congenital Dysfibrinogenemia ISO RGD:737209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dysfibrinogenemia | ClinVar Annotator: match by term: Dysfibrinogenemia, congenital | ClinVar Annotator: match by term: FIBRINOGEN AARHUS 1 | ClinVar Annotator: match by term: FIBRINOGEN CARACAS 2 PMID:10605955|PMID:10887149|PMID:10891444|PMID:11435303|PMID:11460527|PMID:12050338|PMID:14615374|PMID:15795544|PMID:16651864|PMID:1675636|PMID:16846481|PMID:17576681|PMID:17982313|PMID:19109585|PMID:1912564|PMID:19468208|PMID:22880226|PMID:22967385|PMID:237956|PMID:23852822|PMID:25320241|PMID:25741868|PMID:25816717|PMID:25981141|PMID:26006300|PMID:26577257|PMID:26676819|PMID:26763372|PMID:2738154|PMID:27684817|PMID:28101869|PMID:28211264|PMID:28492532|PMID:30332696|PMID:30349899|PMID:30856382|PMID:31064749|PMID:31314131|PMID:31924745|PMID:32166693|PMID:32877852|PMID:3345340|PMID:33668986|PMID:34355501|PMID:3590111|PMID:3618591|PMID:3667568|PMID:4052020|PMID:4082078|PMID:6191801|PMID:6667926|PMID:7298640|PMID:8113408|PMID:8140431|PMID:8457654|PMID:8473507|PMID:8636415|PMID:8944230|PMID:9536098 12120302 FGA fibrinogen alpha chain gene DOID:9003505 Venous Thromboembolism ISO RGD:737209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Venous thromboembolism, susceptibility to PMID:10910940|PMID:16362348|PMID:25741868 12120302 FGA fibrinogen alpha chain gene DOID:9003871 Venous Thrombosis ISO RGD:737209 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deep vein thrombosis PMID:25741868|PMID:34355501|PMID:8473507|PMID:8636415 12120302 FGA fibrinogen alpha chain gene DOID:9004484 Sepsis ISO RGD:2603 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:24667622|REF_RGD_ID:9685020 12120302 FGA fibrinogen alpha chain gene DOID:9004492 Familial Amyloidosis ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8097946|PMID:8639778 12120302 FGA fibrinogen alpha chain gene DOID:9004492 Familial Amyloidosis ISO RGD:737209 D RGD:9068941 20200609 RGD renal amyloidosis,OMIM:105200;DNA:point mutation:exon:p.R554L (human) PMID:8097946|REF_RGD_ID:1601166 12120302 FGA fibrinogen alpha chain gene DOID:9004590 Acute Liver Failure treatment ISO RGD:2603 D RGD:9068941 20200609 RGD PMID:24799907|REF_RGD_ID:11040538 12120302 FGA fibrinogen alpha chain gene DOID:9004610 Acute Lung Injury ISO RGD:2603 D RGD:9068941 20200609 RGD protein:increased expression:blood (rat) PMID:22804886|REF_RGD_ID:7387313 12120302 FGA fibrinogen alpha chain gene DOID:9004929 Congenital Hypodysfibrinogenemia ISO RGD:737209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FIBRINOGEN ROUEN 1 | ClinVar Annotator: match by term: Hypodysfibrinogenemia, congenital PMID:10891444|PMID:11914657|PMID:14615374|PMID:17576681|PMID:25320241|PMID:25741868|PMID:2742828|PMID:28492532|PMID:30349899|PMID:31064749|PMID:31583746|PMID:4084461|PMID:6575689|PMID:9536098 12120302 FGA fibrinogen alpha chain gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2603 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:23086277|REF_RGD_ID:9684989 12120302 FGA fibrinogen alpha chain gene DOID:9005930 Endotoxemia treatment ISO RGD:2603 D RGD:9068941 20200609 RGD PMID:19295478|REF_RGD_ID:11040925 12120302 FGA fibrinogen alpha chain gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2603 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney PMID:21685370|REF_RGD_ID:7175292 12120302 FGA fibrinogen alpha chain gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15805072 12120302 FGA fibrinogen alpha chain gene DOID:9007096 Stroke ISO RGD:737209 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868 12120302 FGA fibrinogen alpha chain gene DOID:9007364 Mouth Neoplasms ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16239339 12120302 FGA fibrinogen alpha chain gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20974703 12120302 FGA fibrinogen alpha chain gene DOID:9007730 Burns ISO RGD:2603 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:20664819|REF_RGD_ID:5131457 12120302 FGA fibrinogen alpha chain gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:737209 D RGD:9068941 20200609 RGD PMID:21887273|REF_RGD_ID:5688767 12120302 FGA fibrinogen alpha chain gene DOID:9352 type 2 diabetes mellitus ISO RGD:737209 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:7974333|REF_RGD_ID:2312416 12120302 FGA fibrinogen alpha chain gene DOID:9477 pulmonary embolism ISO RGD:2603 D RGD:9068941 20200609 RGD protein:increased expression:blood microparticle PMID:22014850|REF_RGD_ID:5688769 12120302 FGA fibrinogen alpha chain gene DOID:9477 pulmonary embolism ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10910940 12120302 FGA fibrinogen alpha chain gene DOID:9675 pulmonary emphysema ISO RGD:2603 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:20949089|REF_RGD_ID:11040553 12120302 FGA fibrinogen alpha chain gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737209 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:25317080|REF_RGD_ID:11040558 12120312 CPE carboxypeptidase E gene DOID:11981 morbid obesity ISO RGD:732381 D RGD:9068941 20200609 RGD mRNA:increased expression:visceral abdominal fat:significantly higher expression in visceral fat than subcutaneous fat of morbidly obese subjects PMID:12530526|REF_RGD_ID:1626182 12120312 CPE carboxypeptidase E gene DOID:28 endocrine system disease ISO RGD:732381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15358678 12120312 CPE carboxypeptidase E gene DOID:630 genetic disease ISO RGD:732381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12120312 CPE carboxypeptidase E gene DOID:9002420 BDV Syndrome ISO RGD:732381 D RGD:7240710 20210818 OMIM 12120312 CPE carboxypeptidase E gene DOID:9002420 BDV Syndrome ISO RGD:732381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BDV syndrome | ClinVar Annotator: match by term: BLAKEMORE-DURMAZ-VASILEIOU SYNDROME PMID:25741868|PMID:28492532|PMID:34383079 12120312 CPE carboxypeptidase E gene DOID:9005172 Lung Neoplasms ISO RGD:732381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12120312 CPE carboxypeptidase E gene DOID:9007692 Insulin Resistance ISO RGD:732381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15358678 12120312 CPE carboxypeptidase E gene DOID:9008023 Memory Disorders ISO RGD:732382 D RGD:9068941 20200609 RGD PMID:18570185|REF_RGD_ID:6483325 12120312 CPE carboxypeptidase E gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:732381 D RGD:9068941 20200609 RGD no association between obesity or diabetes and three SNPs (-53G>T, -144G>A, 219G>A) in Japanese patients PMID:9662053|REF_RGD_ID:1626184 12120312 CPE carboxypeptidase E gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:732381 D RGD:9068941 20200609 RGD DNA:SNP:CDS:847C>T, amino acid R283W; earlier age of onset in heterozygotes in an four Ashkenazi families PMID:11462236|REF_RGD_ID:1626183 12120312 CPE carboxypeptidase E gene DOID:9970 obesity ISO RGD:732381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15358678|PMID:23434795 12120312 CPE carboxypeptidase E gene DOID:9970 obesity ISO RGD:732382 D RGD:9068941 20200609 RGD DNA:transition:CDS:729T>C, amino acid S202P; decreased activity results in decrease in processing of proinsulin PMID:7663508|REF_RGD_ID:1626181 12120312 CPE carboxypeptidase E gene DOID:9970 obesity ISO RGD:732382 D RGD:9068941 20220825 MouseDO OMIM:601665 12120312 CPE carboxypeptidase E gene DOID:9970 obesity no_association ISO RGD:732381 D RGD:9068941 20200609 RGD no association between obesity or diabetes and three SNPs (-53G>T, -144G>A, 219G>A) in Japanese patients PMID:9662053|REF_RGD_ID:1626184 12120324 PRIMPOL primase and DNA directed polymerase gene DOID:630 genetic disease ISO RGD:1605846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120324 PRIMPOL primase and DNA directed polymerase gene DOID:9003490 Myopia 22, Autosomal Dominant ISO RGD:1605846 D RGD:7240710 20190315 OMIM 12120324 PRIMPOL primase and DNA directed polymerase gene DOID:9003490 Myopia 22, Autosomal Dominant ISO RGD:1605846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia 22, autosomal dominant PMID:23579484 12120355 AVEN apoptosis and caspase activation inhibitor gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1320536 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:28492532 12120355 AVEN apoptosis and caspase activation inhibitor gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1320536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12120355 AVEN apoptosis and caspase activation inhibitor gene DOID:13938 amenorrhea ISO RGD:1320536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12120355 AVEN apoptosis and caspase activation inhibitor gene DOID:1826 epilepsy ISO RGD:1320536 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12120355 AVEN apoptosis and caspase activation inhibitor gene DOID:2717 Bloom syndrome ISO RGD:1320536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12120355 AVEN apoptosis and caspase activation inhibitor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1320536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 12120355 AVEN apoptosis and caspase activation inhibitor gene DOID:630 genetic disease ISO RGD:1320536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12120355 AVEN apoptosis and caspase activation inhibitor gene DOID:9001793 Generalized Epilepsy ISO RGD:1320536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:17576681|PMID:25262651|PMID:25741868|PMID:28492532|PMID:9536098 12120355 AVEN apoptosis and caspase activation inhibitor gene DOID:9256 colorectal cancer ISO RGD:1320536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12120365 IFT70A intraflagellar transport 70A gene DOID:0090022 split hand-foot malformation 5 ISO RGD:153301451 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12120365 IFT70A intraflagellar transport 70A gene DOID:630 genetic disease ISO RGD:155900777 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120365 IFT70A intraflagellar transport 70A gene DOID:630 genetic disease ISO RGD:155907679 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120365 IFT70A intraflagellar transport 70A gene DOID:630 genetic disease ISO RGD:155927729 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120365 IFT70A intraflagellar transport 70A gene DOID:630 genetic disease ISO RGD:155958464 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120365 IFT70A intraflagellar transport 70A gene DOID:630 genetic disease ISO RGD:156046881 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120365 IFT70A intraflagellar transport 70A gene DOID:630 genetic disease ISO RGD:156118357 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120365 IFT70A intraflagellar transport 70A gene DOID:630 genetic disease ISO RGD:156175374 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120365 IFT70A intraflagellar transport 70A gene DOID:630 genetic disease ISO RGD:156188985 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120365 IFT70A intraflagellar transport 70A gene DOID:630 genetic disease ISO RGD:156201420 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120365 IFT70A intraflagellar transport 70A gene DOID:630 genetic disease ISO RGD:156224689 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120365 IFT70A intraflagellar transport 70A gene DOID:630 genetic disease ISO RGD:156254721 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120365 IFT70A intraflagellar transport 70A gene DOID:630 genetic disease ISO RGD:156297301 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120365 IFT70A intraflagellar transport 70A gene DOID:630 genetic disease ISO RGD:156367803 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120370 PHF3 PHD finger protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1312646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12120370 PHF3 PHD finger protein 3 gene DOID:0110384 retinitis pigmentosa 25 ISO RGD:1312646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 25 PMID:17011488|PMID:18976725|PMID:20237254|PMID:20333770|PMID:20537394|PMID:21069908|PMID:21179430|PMID:21519034|PMID:22302105|PMID:22363543|PMID:22581970|PMID:23591405|PMID:23757202|PMID:24474277|PMID:24652164|PMID:24938718|PMID:25097241|PMID:25133751|PMID:25324289|PMID:25356976|PMID:25366773|PMID:25491159|PMID:25741868|PMID:26161267|PMID:26261414|PMID:26667666|PMID:26787102|PMID:26872967|PMID:27735924|PMID:28041643|PMID:28492532|PMID:28704921|PMID:28763560|PMID:29074561|PMID:29159838|PMID:29550188|PMID:29641573|PMID:30337596|PMID:30543658|PMID:30718709|PMID:31074760|PMID:31144483|PMID:31213501|PMID:31456290|PMID:31725169|PMID:31814702|PMID:32036094|PMID:32037395|PMID:32531858|PMID:32675063|PMID:32728228|PMID:33247286|PMID:33576794|PMID:34178978 12120370 PHF3 PHD finger protein 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1312646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18976725|PMID:20237254|PMID:20333770|PMID:20537394|PMID:21069908|PMID:21179430|PMID:22302105|PMID:22363543|PMID:22581970|PMID:24033266|PMID:24474277|PMID:24652164|PMID:24938718|PMID:25097241|PMID:25133751|PMID:25324289|PMID:25356976|PMID:25366773|PMID:25741868|PMID:26161267|PMID:26261414|PMID:26667666|PMID:26787102|PMID:26872967|PMID:27208204|PMID:27658286|PMID:28041643|PMID:28492532|PMID:29159838|PMID:29550188|PMID:30337596|PMID:30543658|PMID:30718709|PMID:31074760|PMID:31213501|PMID:31456290|PMID:31725169|PMID:31814702|PMID:32037395|PMID:32675063|PMID:32728228|PMID:33247286|PMID:33576794|PMID:33749171|PMID:34178978 12120370 PHF3 PHD finger protein 3 gene DOID:1059 intellectual disability ISO RGD:1312646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 12120370 PHF3 PHD finger protein 3 gene DOID:11782 astigmatism ISO RGD:1312646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astigmatism PMID:25741868 12120370 PHF3 PHD finger protein 3 gene DOID:630 genetic disease ISO RGD:1312646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12120370 PHF3 PHD finger protein 3 gene DOID:8501 fundus dystrophy ISO RGD:1312646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:18976725|PMID:20237254|PMID:20333770|PMID:20537394|PMID:21069908|PMID:21519034|PMID:22302105|PMID:22363543|PMID:22581970|PMID:23591405|PMID:23757202|PMID:24474277|PMID:24652164|PMID:25324289|PMID:25356976|PMID:25366773|PMID:25741868|PMID:26161267|PMID:26261414|PMID:26872967|PMID:27208204|PMID:28492532|PMID:28704921|PMID:29159838|PMID:29550188|PMID:30337596|PMID:30718709|PMID:31074760|PMID:31213501|PMID:31725169|PMID:32036094|PMID:32037395|PMID:32531858|PMID:32728228|PMID:33749171 12120370 PHF3 PHD finger protein 3 gene DOID:9000343 Vision Disorders ISO RGD:1312646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:25741868 12120370 PHF3 PHD finger protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312646 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12120399 LOC482200 butyrophilin-like protein 10 gene DOID:1540 parathyroid carcinoma ISO RGD:6480792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12120399 LOC482200 butyrophilin-like protein 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:6480792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12120407 AKAP7 A-kinase anchoring protein 7 gene DOID:303 substance-related disorder ISO RGD:1350760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12120407 AKAP7 A-kinase anchoring protein 7 gene DOID:630 genetic disease ISO RGD:1350760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120440 KLK14 kallikrein related peptidase 14 gene DOID:12336 male infertility ISO RGD:1318477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 12120440 KLK14 kallikrein related peptidase 14 gene DOID:630 genetic disease ISO RGD:1318477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120453 CISH cytokine inducible SH2 containing protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12120453 CISH cytokine inducible SH2 containing protein gene DOID:0060071 pre-malignant neoplasm ISO RGD:735426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 12120453 CISH cytokine inducible SH2 containing protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12120453 CISH cytokine inducible SH2 containing protein gene DOID:12365 malaria ISO RGD:735426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malaria, susceptibility to PMID:20484391 12120453 CISH cytokine inducible SH2 containing protein gene DOID:12365 malaria susceptibility ISO RGD:735426 D RGD:7240710 20190502 OMIM 12120453 CISH cytokine inducible SH2 containing protein gene DOID:3042 allergic contact dermatitis ISO RGD:735426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 12120453 CISH cytokine inducible SH2 containing protein gene DOID:399 tuberculosis ISO RGD:735426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberculosis, susceptibility to PMID:20484391 12120453 CISH cytokine inducible SH2 containing protein gene DOID:399 tuberculosis susceptibility ISO RGD:735426 D RGD:7240710 20190502 OMIM 12120453 CISH cytokine inducible SH2 containing protein gene DOID:630 genetic disease ISO RGD:735426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120453 CISH cytokine inducible SH2 containing protein gene DOID:9005036 Bacteremia ISO RGD:735426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bacteremia, susceptibility to, 2 PMID:20484391 12120453 CISH cytokine inducible SH2 containing protein gene DOID:9005036 Bacteremia susceptibility ISO RGD:735426 D RGD:7240710 20190502 OMIM 12120460 CCRL2 C-C motif chemokine receptor like 2 gene DOID:0080600 COVID-19 ISO RGD:1323460 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12120460 CCRL2 C-C motif chemokine receptor like 2 gene DOID:37 skin disease ISO RGD:1323460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12120460 CCRL2 C-C motif chemokine receptor like 2 gene DOID:630 genetic disease ISO RGD:1323460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120460 CCRL2 C-C motif chemokine receptor like 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1323460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12120460 CCRL2 C-C motif chemokine receptor like 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:1323460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12120476 KCTD4 potassium channel tetramerization domain containing 4 gene DOID:630 genetic disease ISO RGD:1353413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120485 ACVR2B activin A receptor type 2B gene DOID:0050451 Brugada syndrome ISO RGD:737613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 12120485 ACVR2B activin A receptor type 2B gene DOID:0050545 visceral heterotaxy ISO RGD:737613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral heterotaxy 12120485 ACVR2B activin A receptor type 2B gene DOID:0060856 right atrial isomerism ISO RGD:10078 D RGD:9068941 20220825 MouseDO OMIM:208530 12120485 ACVR2B activin A receptor type 2B gene DOID:630 genetic disease ISO RGD:737613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12120485 ACVR2B activin A receptor type 2B gene DOID:758 situs inversus ISO RGD:737613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9916847 12120485 ACVR2B activin A receptor type 2B gene DOID:9001436 Immunodeficiency 68 ISO RGD:737613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532 12120485 ACVR2B activin A receptor type 2B gene DOID:9004283 Transplant Rejection treatment ISO RGD:737613 D RGD:9068941 20230427 RGD human construct in rat model PMID:27732750|REF_RGD_ID:329322881 12120485 ACVR2B activin A receptor type 2B gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:737613 D RGD:9068941 20230427 RGD human construct in rat model PMID:27732750|REF_RGD_ID:329322881 12120485 ACVR2B activin A receptor type 2B gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:737613 D RGD:7240710 20180130 OMIM 12120485 ACVR2B activin A receptor type 2B gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:737613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:16199547|PMID:17576681|PMID:2049719|PMID:21864452|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30120289|PMID:30622330|PMID:9536098|PMID:9916847 12120500 ACP3 acid phosphatase 3 gene DOID:10283 prostate cancer ISO RGD:736505 D RGD:9068941 20200609 RGD PMID:16024648|REF_RGD_ID:2301055 12120500 ACP3 acid phosphatase 3 gene DOID:10283 prostate cancer ISO RGD:736506 D RGD:9068941 20220825 MouseDO OMIM:176807 | OMIM:300147 | OMIM:300704 | OMIM:601518 | OMIM:602759 | OMIM:608656 | OMIM:608658 | OMIM:609299 | OMIM:609558 | OMIM:610321 | OMIM:610997 | OMIM:611100 | OMIM:611868 | OMIM:611928 | OMIM:611955 | OMIM:611958 | OMIM:611959 12120500 ACP3 acid phosphatase 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:736505 D RGD:9068941 20200609 RGD PSA/PAP (prostatic acid phosphatase) ratio - a valuable prognostic indicator in men with Stage IV prostate cancer PMID:17991541|REF_RGD_ID:2301054 12120500 ACP3 acid phosphatase 3 gene DOID:630 genetic disease ISO RGD:736505 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120500 ACP3 acid phosphatase 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:736505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12120500 ACP3 acid phosphatase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736505 D RGD:9068941 20200609 RGD a positive cis-element in the promoter involved in regulating prostate cell-specific expression of the gene PMID:15240830|REF_RGD_ID:2301052 12120500 ACP3 acid phosphatase 3 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:736505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12120500 ACP3 acid phosphatase 3 gene DOID:9270 alkaptonuria ISO RGD:736505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12120520 RIPOR3 RIPOR family member 3 gene DOID:10283 prostate cancer ISO RGD:1313101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12120520 RIPOR3 RIPOR family member 3 gene DOID:630 genetic disease ISO RGD:1313101 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120555 TRPM8 transient receptor potential cation channel subfamily M member 8 gene DOID:0060476 Perlman syndrome ISO RGD:732182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12120555 TRPM8 transient receptor potential cation channel subfamily M member 8 gene DOID:0110991 Joubert syndrome 22 ISO RGD:732182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12120555 TRPM8 transient receptor potential cation channel subfamily M member 8 gene DOID:12783 migraine without aura ISO RGD:732182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683712 12120555 TRPM8 transient receptor potential cation channel subfamily M member 8 gene DOID:630 genetic disease ISO RGD:732182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120555 TRPM8 transient receptor potential cation channel subfamily M member 8 gene DOID:6364 migraine ISO RGD:732182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21666692 12120590 CIBAR1 CBY1 interacting BAR domain containing 1 gene DOID:0060340 ciliopathy ISO RGD:1604747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30395363 12120590 CIBAR1 CBY1 interacting BAR domain containing 1 gene DOID:11193 syndactyly ISO RGD:1604747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30395363 12120590 CIBAR1 CBY1 interacting BAR domain containing 1 gene DOID:1148 polydactyly ISO RGD:1332560 D RGD:9068941 20220825 MouseDO OMIM:174200 | OMIM:174500 | OMIM:174700 | OMIM:603596 12120590 CIBAR1 CBY1 interacting BAR domain containing 1 gene DOID:630 genetic disease ISO RGD:1604747 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120590 CIBAR1 CBY1 interacting BAR domain containing 1 gene DOID:9002200 Postaxial Polydactyly, Type A9 ISO RGD:1604747 D RGD:7240710 20190315 OMIM 12120590 CIBAR1 CBY1 interacting BAR domain containing 1 gene DOID:9002200 Postaxial Polydactyly, Type A9 ISO RGD:1604747 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A9 PMID:25741868|PMID:30395363 12120590 CIBAR1 CBY1 interacting BAR domain containing 1 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1604747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Postaxial polydactyly type A PMID:30395363 12120615 ACOT11 acyl-CoA thioesterase 11 gene DOID:630 genetic disease ISO RGD:1317612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120641 LRRC42 leucine rich repeat containing 42 gene DOID:630 genetic disease ISO RGD:1604548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120656 EXOC3L1 exocyst complex component 3 like 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12120656 EXOC3L1 exocyst complex component 3 like 1 gene DOID:630 genetic disease ISO RGD:1605832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120674 QSOX1 quiescin sulfhydryl oxidase 1 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:69035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12120674 QSOX1 quiescin sulfhydryl oxidase 1 gene DOID:14679 VACTERL association ISO RGD:69036 D RGD:9068941 20220825 MouseDO OMIM:192350 | OMIM:276950 12120674 QSOX1 quiescin sulfhydryl oxidase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:69035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12120674 QSOX1 quiescin sulfhydryl oxidase 1 gene DOID:303 substance-related disorder ISO RGD:69035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12120674 QSOX1 quiescin sulfhydryl oxidase 1 gene DOID:630 genetic disease ISO RGD:69035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120674 QSOX1 quiescin sulfhydryl oxidase 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:69035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12120674 QSOX1 quiescin sulfhydryl oxidase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:69035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12120689 ARHGEF11 Rho guanine nucleotide exchange factor 11 gene DOID:1540 parathyroid carcinoma ISO RGD:734056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12120689 ARHGEF11 Rho guanine nucleotide exchange factor 11 gene DOID:630 genetic disease ISO RGD:734056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120689 ARHGEF11 Rho guanine nucleotide exchange factor 11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12120751 SRPX2 sushi repeat containing protein X-linked 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12120751 SRPX2 sushi repeat containing protein X-linked 2 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1350450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:21053371|PMID:23712037|PMID:27179713|PMID:28492532|PMID:29377098 12120751 SRPX2 sushi repeat containing protein X-linked 2 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1350450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 12120751 SRPX2 sushi repeat containing protein X-linked 2 gene DOID:12849 autistic disorder ISO RGD:1350450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:28492532|PMID:30208311 12120751 SRPX2 sushi repeat containing protein X-linked 2 gene DOID:630 genetic disease ISO RGD:1350450 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12120751 SRPX2 sushi repeat containing protein X-linked 2 gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1350450 D RGD:7240710 20180130 OMIM 12120751 SRPX2 sushi repeat containing protein X-linked 2 gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1350450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:16199547|PMID:16497722|PMID:18718938|PMID:23352160|PMID:23831613|PMID:23871722|PMID:23933820|PMID:24995671|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28492532 12120775 EIF3D eukaryotic translation initiation factor 3 subunit D gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1352969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12120775 EIF3D eukaryotic translation initiation factor 3 subunit D gene DOID:10591 pre-eclampsia ISO RGD:1352969 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:34520790 12120775 EIF3D eukaryotic translation initiation factor 3 subunit D gene DOID:630 genetic disease ISO RGD:1352969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120794 FANCA FA complementation group A gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1322810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12120794 FANCA FA complementation group A gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1322810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12120794 FANCA FA complementation group A gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1322810 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12120794 FANCA FA complementation group A gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1322810 D RGD:7240710 20181219 OMIM 12120794 FANCA FA complementation group A gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1322810 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:08896563|PMID:08896564|PMID:09371798|PMID:09399890|PMID:09721219|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12827451|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:19109555|PMID:19139070|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:20301575|PMID:20435624|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:2339692|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28104920|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28873162|PMID:28973083|PMID:29093742|PMID:29098742|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32947577|PMID:33088445|PMID:33172906|PMID:33224012|PMID:33679882|PMID:33686268|PMID:33718801|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34585473|PMID:34864095|PMID:34906502|PMID:8896563|PMID:8896564|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9929978 12120794 FANCA FA complementation group A gene DOID:10283 prostate cancer ISO RGD:1322810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:10094191|PMID:24728327|PMID:25741868|PMID:26181256|PMID:28492532|PMID:28864460 12120794 FANCA FA complementation group A gene DOID:10907 microcephaly ISO RGD:1322810 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:26689913|PMID:28202063|PMID:28492532|PMID:30032139 12120794 FANCA FA complementation group A gene DOID:11054 urinary bladder cancer ISO RGD:1322810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121791 12120794 FANCA FA complementation group A gene DOID:11054 urinary bladder cancer ISO RGD:1322810 D RGD:9068941 20200609 RGD PMID:19237606|REF_RGD_ID:11344902 12120794 FANCA FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:24704046|PMID:2472832|PMID:24728327|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28973083|PMID:29093742|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29797310|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30792206|PMID:31192125|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31721781|PMID:32098966|PMID:33172906|PMID:33224012|PMID:33686268|PMID:33718801|PMID:34008892|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 12120794 FANCA FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25741868|PMID:25751062|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:29093742|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29797310|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30792206|PMID:31192125|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31721781|PMID:32098966|PMID:33172906|PMID:33224012|PMID:33686268|PMID:33718801|PMID:34008892|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 12120794 FANCA FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25741868|PMID:25751062|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27997549|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:29093742|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29797310|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:31030435|PMID:31192125|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33172906|PMID:33224012|PMID:33679882|PMID:33686268|PMID:33718801|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34585473|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 12120794 FANCA FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25741868|PMID:25751062|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27997549|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:29093742|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29797310|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33172906|PMID:33224012|PMID:33679882|PMID:33686268|PMID:33718801|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34585473|PMID:34864095|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 12120794 FANCA FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33088445|PMID:33172906|PMID:33224012|PMID:33482836|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33883933|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34864095|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 12120794 FANCA FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29702541|PMID:29779353|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33088445|PMID:33172906|PMID:33224012|PMID:33482836|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33883933|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34864095|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 12120794 FANCA FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28104920|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29702541|PMID:29779353|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31395037|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33088445|PMID:33172906|PMID:33224012|PMID:33482836|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33883933|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34864095|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 12120794 FANCA FA complementation group A gene DOID:13636 Fanconi anemia disease_progression ISO RGD:1322810 D RGD:9068941 20200609 RGD DNA:deletion PMID:11110674|REF_RGD_ID:11344914 12120794 FANCA FA complementation group A gene DOID:14780 KBG syndrome ISO RGD:1322810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 12120794 FANCA FA complementation group A gene DOID:1612 breast cancer ISO RGD:1322810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:24728327|PMID:25741868|PMID:28492532 12120794 FANCA FA complementation group A gene DOID:1793 pancreatic cancer ISO RGD:1322810 D RGD:9068941 20200609 RGD DNA,Protein:polymorphisms:exons:c.377C>G, c.661A>G (human) PMID:15591268|REF_RGD_ID:2317735 12120794 FANCA FA complementation group A gene DOID:2018 hyperinsulinism ISO RGD:1322810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22482891 12120794 FANCA FA complementation group A gene DOID:2394 ovarian cancer ISO RGD:1322810 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:26467025|PMID:28202063|PMID:28492532|PMID:30032139|PMID:9371798 12120794 FANCA FA complementation group A gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1322810 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.S858R (human) PMID:21279724|REF_RGD_ID:11344913 12120794 FANCA FA complementation group A gene DOID:4362 cervical cancer ISO RGD:1322810 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :[rs2239359, rs7190823, rs7195066 (human) PMID:19012493|REF_RGD_ID:11344886 12120794 FANCA FA complementation group A gene DOID:4362 cervical cancer no_association ISO RGD:1322810 D RGD:9068941 20200609 RGD DNA:SNP: :rs11649196 (human) PMID:21543111|REF_RGD_ID:11344901 12120794 FANCA FA complementation group A gene DOID:5223 infertility ISO RGD:1322811 D RGD:9068941 20200609 RGD associated with Hypogonadism PMID:10915769|REF_RGD_ID:11344895 12120794 FANCA FA complementation group A gene DOID:5426 primary ovarian insufficiency ISO RGD:1322810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868|PMID:28492532|PMID:28687356|PMID:28767289 12120794 FANCA FA complementation group A gene DOID:630 genetic disease ISO RGD:1322810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30792206 12120794 FANCA FA complementation group A gene DOID:6846 familial melanoma ISO RGD:1322810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:28492532 12120794 FANCA FA complementation group A gene DOID:687 hepatoblastoma ISO RGD:1322810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:24728327|PMID:25741868|PMID:28492532 12120794 FANCA FA complementation group A gene DOID:769 neuroblastoma ISO RGD:1322810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:15059067|PMID:17576681|PMID:24584348|PMID:27041517|PMID:28060124|PMID:28492532|PMID:29098742|PMID:9536098 12120794 FANCA FA complementation group A gene DOID:8923 skin melanoma disease_progression ISO RGD:1322810 D RGD:9068941 20200609 RGD DNA:SNP: :rs62068372 (human) PMID:25243787|REF_RGD_ID:11344896 12120794 FANCA FA complementation group A gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1322810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12120794 FANCA FA complementation group A gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1322810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:10521298|PMID:12444097|PMID:25741868 12120794 FANCA FA complementation group A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12120794 FANCA FA complementation group A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17924555|PMID:19367192|PMID:25741868|PMID:28492532 12120794 FANCA FA complementation group A gene DOID:9007692 Insulin Resistance ISO RGD:1322811 D RGD:9068941 20200609 RGD PMID:22482891|REF_RGD_ID:11046266 12120794 FANCA FA complementation group A gene DOID:9119 acute myeloid leukemia ISO RGD:1322810 D RGD:9068941 20200609 RGD DNA, mRNA:deletions, decreased expression: :multiple PMID:14749703|REF_RGD_ID:11344889 12120794 FANCA FA complementation group A gene DOID:9970 obesity ISO RGD:1322811 D RGD:9068941 20200609 RGD PMID:22482891|REF_RGD_ID:11046266 12120867 MORC3 MORC family CW-type zinc finger 3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1317400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12120867 MORC3 MORC family CW-type zinc finger 3 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1317400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12120867 MORC3 MORC family CW-type zinc finger 3 gene DOID:630 genetic disease ISO RGD:1317400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120867 MORC3 MORC family CW-type zinc finger 3 gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1317400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 12120891 PTX4 pentraxin 4 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1605189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12120891 PTX4 pentraxin 4 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605189 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532|PMID:29688594 12120891 PTX4 pentraxin 4 gene DOID:1826 epilepsy ISO RGD:1605189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12120891 PTX4 pentraxin 4 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12120891 PTX4 pentraxin 4 gene DOID:630 genetic disease ISO RGD:1605189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120906 TRADD TNFRSF1A associated via death domain gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1350695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12120906 TRADD TNFRSF1A associated via death domain gene DOID:0110255 cataract 5 multiple types ISO RGD:1350695 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 12120906 TRADD TNFRSF1A associated via death domain gene DOID:630 genetic disease ISO RGD:1350695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120906 TRADD TNFRSF1A associated via death domain gene DOID:684 hepatocellular carcinoma ISO RGD:1350695 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 12120906 TRADD TNFRSF1A associated via death domain gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:621313 D RGD:9068941 20200609 RGD PMID:23423194|REF_RGD_ID:8661760 12120906 TRADD TNFRSF1A associated via death domain gene DOID:9008091 Optic Nerve Injuries ISO RGD:621313 D RGD:9068941 20200609 RGD protein:increased expression: retina PMID:18552980|REF_RGD_ID:7794683 12120922 TMEM52B transmembrane protein 52B gene DOID:630 genetic disease ISO RGD:1606983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120935 NINJ2 ninjurin 2 gene DOID:630 genetic disease ISO RGD:1352493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120935 NINJ2 ninjurin 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1352493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12120954 R3HDM4 R3H domain containing 4 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1316037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 12120954 R3HDM4 R3H domain containing 4 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1316037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 12120954 R3HDM4 R3H domain containing 4 gene DOID:5339 cyclic hematopoiesis ISO RGD:1316037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12120954 R3HDM4 R3H domain containing 4 gene DOID:630 genetic disease ISO RGD:1316037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120967 SPOCD1 SPOC domain containing 1 gene DOID:630 genetic disease ISO RGD:1345460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120995 DCSTAMP dendrocyte expressed seven transmembrane protein gene DOID:0111590 Cohen syndrome ISO RGD:1321334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12120995 DCSTAMP dendrocyte expressed seven transmembrane protein gene DOID:289 endometriosis ISO RGD:1321334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12120995 DCSTAMP dendrocyte expressed seven transmembrane protein gene DOID:5408 Paget's disease of bone ISO RGD:1321334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21623375 12120995 DCSTAMP dendrocyte expressed seven transmembrane protein gene DOID:630 genetic disease ISO RGD:1321334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12120995 DCSTAMP dendrocyte expressed seven transmembrane protein gene DOID:670 amphetamine abuse ISO RGD:1321334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12121005 SMIM1 small integral membrane protein 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:6767479 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12121005 SMIM1 small integral membrane protein 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:6767479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12121005 SMIM1 small integral membrane protein 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:6767479 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12121005 SMIM1 small integral membrane protein 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:6767479 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12121005 SMIM1 small integral membrane protein 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:6767479 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12121005 SMIM1 small integral membrane protein 1 gene DOID:630 genetic disease ISO RGD:6767479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121005 SMIM1 small integral membrane protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:6767479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12121005 SMIM1 small integral membrane protein 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:6767479 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12121019 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:620512 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:24782632|REF_RGD_ID:14694831 12121019 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:0080600 COVID-19 ISO RGD:733877 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12121019 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:0111277 mitochondrial trifunctional protein deficiency ISO RGD:733877 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:10234607|PMID:10352164|PMID:10518281|PMID:11243734|PMID:11773547|PMID:11855930|PMID:12237653|PMID:12442268|PMID:12809642|PMID:12971428|PMID:14630990|PMID:14694500|PMID:15902556|PMID:16040264|PMID:16199547|PMID:17143551|PMID:17576681|PMID:18408953|PMID:19433283|PMID:19852779|PMID:2019931|PMID:20583174|PMID:20659813|PMID:20814823|PMID:21103935|PMID:21549624|PMID:22065858|PMID:22459206|PMID:23430857|PMID:23798014|PMID:23868323|PMID:24033266|PMID:25087612|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:26676313|PMID:27014569|PMID:27117294|PMID:27334895|PMID:27491397|PMID:28245050|PMID:28492532|PMID:28515471|PMID:28559085|PMID:28798025|PMID:29095929|PMID:29124685|PMID:29268767|PMID:29519241|PMID:30029694|PMID:30626930|PMID:30682426|PMID:31589614|PMID:31980526|PMID:32778825|PMID:32860008|PMID:34878152|PMID:7738175|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:8865274|PMID:9003853|PMID:9266371|PMID:9536098|PMID:9739053 12121019 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:733877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12121019 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:733877 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:25260493|REF_RGD_ID:10047114 12121019 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:630 genetic disease ISO RGD:733877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10352164|PMID:10518281|PMID:11773547|PMID:14630990|PMID:15902556|PMID:18408953|PMID:19852779|PMID:20583174|PMID:20814823|PMID:21103935|PMID:21549624|PMID:23430857|PMID:23868323|PMID:24033266|PMID:25087612|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:26676313|PMID:27117294|PMID:27334895|PMID:27491397|PMID:28245050|PMID:28492532|PMID:28559085|PMID:28798025|PMID:29095929|PMID:30029694|PMID:30682426|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:9003853|PMID:9266371 12121019 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:8398 osteoarthritis ISO RGD:733877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12121019 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9002231 Fetal Growth Retardation ISO RGD:620512 D RGD:9068941 20200609 RGD mRNA:decreased expression PMID:11124150|REF_RGD_ID:1599884 12121019 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:733877 D RGD:7240710 20180130 OMIM 12121019 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:733877 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:10234607|PMID:10352164|PMID:10518281|PMID:11243734|PMID:11773547|PMID:11855930|PMID:12237653|PMID:12442268|PMID:12809642|PMID:12971428|PMID:14630990|PMID:14694500|PMID:15902556|PMID:16040264|PMID:16199547|PMID:17576681|PMID:18408953|PMID:19433283|PMID:19852779|PMID:2019931|PMID:20583174|PMID:20814823|PMID:21103935|PMID:21549624|PMID:22030098|PMID:22065858|PMID:22459206|PMID:23430857|PMID:23798014|PMID:23868323|PMID:24033266|PMID:25087612|PMID:25525159|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:26676313|PMID:27117294|PMID:27334895|PMID:27491397|PMID:28245050|PMID:28492532|PMID:28559085|PMID:28798025|PMID:29095929|PMID:29124685|PMID:29268767|PMID:29519241|PMID:30029694|PMID:30626930|PMID:30682426|PMID:30934865|PMID:31589614|PMID:31980526|PMID:32778825|PMID:33638202|PMID:34878152|PMID:35433174|PMID:7738175|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:8865274|PMID:9003853|PMID:9266371|PMID:9536098|PMID:9739053 12121019 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1552757 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:25260493|REF_RGD_ID:10047114 12121019 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:733877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12121019 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12121019 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9008729 Mitochondrial Trifunctional Protein Deficiency 1 ISO RGD:733877 D RGD:7240710 20230505 OMIM 12121019 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9008729 Mitochondrial Trifunctional Protein Deficiency 1 ISO RGD:733877 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Trifunctional protein deficiency type 1 PMID:10352164|PMID:10518281|PMID:11773547|PMID:12237653|PMID:12809642|PMID:14630990|PMID:15902556|PMID:16040264|PMID:18408953|PMID:19852779|PMID:20583174|PMID:20814823|PMID:21103935|PMID:21549624|PMID:22459206|PMID:23430857|PMID:23868323|PMID:24033266|PMID:25087612|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:26676313|PMID:27117294|PMID:27334895|PMID:27491397|PMID:28245050|PMID:28492532|PMID:28559085|PMID:28798025|PMID:29095929|PMID:30029694|PMID:7738175|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:9003853|PMID:9266371 12121019 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9452 fatty liver disease ISO RGD:733877 D RGD:9068941 20200609 RGD DNA:point mutations: ;1132C>T,1528G>C;LCHAD deficiency,OMIM:609015 PMID:7846063|REF_RGD_ID:1599882 12121048 SOSTDC1 sclerostin domain containing 1 gene DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 ISO RGD:1343094 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 PMID:23288328|PMID:28492532 12121048 SOSTDC1 sclerostin domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12121048 SOSTDC1 sclerostin domain containing 1 gene DOID:630 genetic disease ISO RGD:1343094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121120 FNIP2 folliculin interacting protein 2 gene DOID:630 genetic disease ISO RGD:2292121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121120 FNIP2 folliculin interacting protein 2 gene DOID:9002704 Leukoencephalopathies IAGP D RGD:12801476 20210603 OMIA Hypomyelination of the central nervous system PMID:20973788|PMID:3577694|PMID:24272703|PMID:731520|PMID:676669 12121151 ABCC5 ATP binding cassette subfamily C member 5 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:734363 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12121151 ABCC5 ATP binding cassette subfamily C member 5 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:734363 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12121151 ABCC5 ATP binding cassette subfamily C member 5 gene DOID:0111546 Currarino syndrome ISO RGD:734363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12121151 ABCC5 ATP binding cassette subfamily C member 5 gene DOID:1793 pancreatic cancer ISO RGD:734363 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:15688370|REF_RGD_ID:2325200 12121151 ABCC5 ATP binding cassette subfamily C member 5 gene DOID:630 genetic disease ISO RGD:734363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121151 ABCC5 ATP binding cassette subfamily C member 5 gene DOID:7148 rheumatoid arthritis ISO RGD:734363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 12121151 ABCC5 ATP binding cassette subfamily C member 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12121151 ABCC5 ATP binding cassette subfamily C member 5 gene DOID:9004009 Reperfusion Injury ISO RGD:70913 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain, neuron PMID:16997484|REF_RGD_ID:2301088 12121151 ABCC5 ATP binding cassette subfamily C member 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:734363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12121201 CLEC2L C-type lectin domain family 2 member L gene DOID:0080690 RASopathy ISO RGD:1351189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12121201 CLEC2L C-type lectin domain family 2 member L gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12121201 CLEC2L C-type lectin domain family 2 member L gene DOID:630 genetic disease ISO RGD:1351189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121228 MFAP4 microfibril associated protein 4 gene DOID:0050777 Joubert syndrome ISO RGD:1317270 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12121228 MFAP4 microfibril associated protein 4 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1317270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12121228 MFAP4 microfibril associated protein 4 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1317270 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12121228 MFAP4 microfibril associated protein 4 gene DOID:12849 autistic disorder ISO RGD:1317270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12121228 MFAP4 microfibril associated protein 4 gene DOID:630 genetic disease ISO RGD:1317270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121228 MFAP4 microfibril associated protein 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12121228 MFAP4 microfibril associated protein 4 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1317270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 12121238 DENND2D DENN domain containing 2D gene DOID:12849 autistic disorder ISO RGD:1602459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12121238 DENND2D DENN domain containing 2D gene DOID:630 genetic disease ISO RGD:1602459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121254 SMG6 SMG6 nonsense mediated mRNA decay factor gene DOID:630 genetic disease ISO RGD:1320039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121254 SMG6 SMG6 nonsense mediated mRNA decay factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12121286 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:733467 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12121286 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:0050476 Barth syndrome ISO RGD:733467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12121286 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:733467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12121286 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:0050873 follicular lymphoma ISO RGD:733467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26691987 12121286 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12121286 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:733467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 12121286 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:0112002 immunodeficiency 47 ISO RGD:733467 D RGD:7240710 20190315 OMIM 12121286 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:0112002 immunodeficiency 47 ISO RGD:733467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 47 PMID:25741868|PMID:27231034|PMID:28492532|PMID:28688840|PMID:29192153|PMID:29396028|PMID:32058063|PMID:32216104 12121286 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:733467 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12121286 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:733467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12121286 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:733467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12121286 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:1227 neutropenia ISO RGD:733467 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:28492532 12121286 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:12849 autistic disorder ISO RGD:733467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12121286 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:13628 favism ISO RGD:733467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12121286 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:2729 dyskeratosis congenita ISO RGD:733467 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12121286 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:607 paraplegia ISO RGD:733467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12121286 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:630 genetic disease ISO RGD:733467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12121286 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:9001895 Immunoglobulin A Deficiency 2 ISO RGD:733467 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunoglobulin A deficiency 2 PMID:25741868|PMID:28492532 12121286 ATP6AP1 ATPase H+ transporting accessory protein 1 gene DOID:9002720 Splenomegaly ISO RGD:733467 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12121300 HJURP Holliday junction recognition protein gene DOID:0060476 Perlman syndrome ISO RGD:2292108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12121300 HJURP Holliday junction recognition protein gene DOID:0080600 COVID-19 ISO RGD:2292108 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12121300 HJURP Holliday junction recognition protein gene DOID:0110991 Joubert syndrome 22 ISO RGD:2292108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12121300 HJURP Holliday junction recognition protein gene DOID:630 genetic disease ISO RGD:2292108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121300 HJURP Holliday junction recognition protein gene DOID:684 hepatocellular carcinoma ISO RGD:2292108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12121321 GSTT2B glutathione S-transferase theta 2B gene DOID:1826 epilepsy ISO RGD:1625818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12121321 GSTT2B glutathione S-transferase theta 2B gene DOID:5419 schizophrenia ISO RGD:1625818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12121321 GSTT2B glutathione S-transferase theta 2B gene DOID:630 genetic disease ISO RGD:1625818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121337 LTBP4 latent transforming growth factor beta binding protein 4 gene DOID:0070139 autosomal recessive cutis laxa type IC ISO RGD:1315988 D RGD:7240710 20180130 OMIM 12121337 LTBP4 latent transforming growth factor beta binding protein 4 gene DOID:0070139 autosomal recessive cutis laxa type IC ISO RGD:1315988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type IC PMID:16199547|PMID:19836010|PMID:22829427|PMID:24033266|PMID:25741868|PMID:25882708|PMID:28492532|PMID:31115174|PMID:35972031 12121337 LTBP4 latent transforming growth factor beta binding protein 4 gene DOID:0080600 COVID-19 ISO RGD:1315988 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12121337 LTBP4 latent transforming growth factor beta binding protein 4 gene DOID:0080736 Ehlers-Danlos syndrome musculocontractural type 1 ISO RGD:1315988 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 1 PMID:25741868 12121337 LTBP4 latent transforming growth factor beta binding protein 4 gene DOID:114 heart disease ISO RGD:1315989 D RGD:9068941 20200609 RGD PMID:12208849|REF_RGD_ID:1582112 12121337 LTBP4 latent transforming growth factor beta binding protein 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1315988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12121337 LTBP4 latent transforming growth factor beta binding protein 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1315988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12121337 LTBP4 latent transforming growth factor beta binding protein 4 gene DOID:2340 craniosynostosis ISO RGD:1315988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12121337 LTBP4 latent transforming growth factor beta binding protein 4 gene DOID:3068 glioblastoma ISO RGD:1315988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27270107 12121337 LTBP4 latent transforming growth factor beta binding protein 4 gene DOID:3144 cutis laxa ISO RGD:1315988 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cutis laxa 12121337 LTBP4 latent transforming growth factor beta binding protein 4 gene DOID:630 genetic disease ISO RGD:1315988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12121337 LTBP4 latent transforming growth factor beta binding protein 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1315988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12121337 LTBP4 latent transforming growth factor beta binding protein 4 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1315988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27270107 12121337 LTBP4 latent transforming growth factor beta binding protein 4 gene DOID:9269 maple syrup urine disease ISO RGD:1315988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12121376 CCL13 chemokine (C-C motif) ligand 13 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1319498 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28434932 12121376 CCL13 chemokine (C-C motif) ligand 13 gene DOID:1205 allergic disease ISO RGD:1319498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12121376 CCL13 chemokine (C-C motif) ligand 13 gene DOID:2316 brain ischemia ISO RGD:1319498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 12121376 CCL13 chemokine (C-C motif) ligand 13 gene DOID:2377 multiple sclerosis ISO RGD:1353724 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:intron, 3' utr:c.77-105T>C, c.*856T>C (rs159313, rs2072070) (human) PMID:19865101|REF_RGD_ID:4145472 12121376 CCL13 chemokine (C-C motif) ligand 13 gene DOID:552 pneumonia ISO RGD:1319498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12121376 CCL13 chemokine (C-C motif) ligand 13 gene DOID:630 genetic disease ISO RGD:1353724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121376 CCL13 chemokine (C-C motif) ligand 13 gene DOID:684 hepatocellular carcinoma ISO RGD:1319498 D RGD:9068941 20210423 RGD mRNA:increased expression:liver (mouse) PMID:26569409|REF_RGD_ID:11344640 12121376 CCL13 chemokine (C-C motif) ligand 13 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1309255 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:9698165|REF_RGD_ID:5135274 12121376 CCL13 chemokine (C-C motif) ligand 13 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1319498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12388339 12121376 CCL13 chemokine (C-C motif) ligand 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12121381 PSMB2 proteasome 20S subunit beta 2 gene DOID:0080600 COVID-19 ISO RGD:732759 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12121381 PSMB2 proteasome 20S subunit beta 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:732759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12121381 PSMB2 proteasome 20S subunit beta 2 gene DOID:11054 urinary bladder cancer ISO RGD:732759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 12121381 PSMB2 proteasome 20S subunit beta 2 gene DOID:630 genetic disease ISO RGD:732759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121394 H2AZ2 H2A.Z variant histone 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12121395 PAFAH2 platelet activating factor acetylhydrolase 2 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1349698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 12121395 PAFAH2 platelet activating factor acetylhydrolase 2 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1349698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12121395 PAFAH2 platelet activating factor acetylhydrolase 2 gene DOID:630 genetic disease ISO RGD:1349698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121430 LY86 lymphocyte antigen 86 gene DOID:182 calcinosis ISO RGD:1320546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12121430 LY86 lymphocyte antigen 86 gene DOID:4079 heart valve disease ISO RGD:1320546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12121430 LY86 lymphocyte antigen 86 gene DOID:630 genetic disease ISO RGD:1320546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121430 LY86 lymphocyte antigen 86 gene DOID:9000998 Brain Injuries ISO RGD:1320546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 12121430 LY86 lymphocyte antigen 86 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12121439 DDX10 DEAD-box helicase 10 gene DOID:1059 intellectual disability ISO RGD:1319083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12121439 DDX10 DEAD-box helicase 10 gene DOID:12704 ataxia telangiectasia ISO RGD:1319083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12121439 DDX10 DEAD-box helicase 10 gene DOID:630 genetic disease ISO RGD:1319083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121439 DDX10 DEAD-box helicase 10 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1319083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12121439 DDX10 DEAD-box helicase 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319083 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 12121465 SAT1 spermidine/spermine N1-acetyltransferase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12121465 SAT1 spermidine/spermine N1-acetyltransferase 1 gene DOID:0080600 COVID-19 ISO RGD:1346323 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12121465 SAT1 spermidine/spermine N1-acetyltransferase 1 gene DOID:0080600 COVID-19 ISO RGD:1346323 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12121465 SAT1 spermidine/spermine N1-acetyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1346323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12121465 SAT1 spermidine/spermine N1-acetyltransferase 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1346323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 12121465 SAT1 spermidine/spermine N1-acetyltransferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12121465 SAT1 spermidine/spermine N1-acetyltransferase 1 gene DOID:9970 obesity ISO RGD:1346323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12121476 OR4N2B olfactory receptor family 4 subfamily N member 2B gene DOID:0060041 autism spectrum disorder ISO RGD:1344920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 12121476 OR4N2B olfactory receptor family 4 subfamily N member 2B gene DOID:1059 intellectual disability ISO RGD:1344920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12121476 OR4N2B olfactory receptor family 4 subfamily N member 2B gene DOID:630 genetic disease ISO RGD:1344920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121480 PLAAT4 phospholipase A and acyltransferase 4 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1342575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12121480 PLAAT4 phospholipase A and acyltransferase 4 gene DOID:1059 intellectual disability ISO RGD:1342575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12121480 PLAAT4 phospholipase A and acyltransferase 4 gene DOID:630 genetic disease ISO RGD:1342575 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121488 DCC DCC netrin 1 receptor gene DOID:0060041 autism spectrum disorder ISO RGD:731288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12121488 DCC DCC netrin 1 receptor gene DOID:1059 intellectual disability ISO RGD:731288 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12121488 DCC DCC netrin 1 receptor gene DOID:1107 esophageal carcinoma ISO RGD:731288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma, somatic PMID:8187090 12121488 DCC DCC netrin 1 receptor gene DOID:13938 amenorrhea ISO RGD:731288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:24808016|PMID:32870266 12121488 DCC DCC netrin 1 receptor gene DOID:1520 colon carcinoma ISO RGD:731288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:8188295 12121488 DCC DCC netrin 1 receptor gene DOID:1909 melanoma ISO RGD:731288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 12121488 DCC DCC netrin 1 receptor gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:731288 D RGD:9068941 20200609 RGD DNA:deletions:multiple (human) PMID:8187090|REF_RGD_ID:734879 12121488 DCC DCC netrin 1 receptor gene DOID:4961 bone marrow disease ISO RGD:731288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone marrow hypocellularity PMID:25741868 12121488 DCC DCC netrin 1 receptor gene DOID:5041 esophageal cancer ISO RGD:731288 D RGD:7240710 20190315 OMIM 12121488 DCC DCC netrin 1 receptor gene DOID:630 genetic disease ISO RGD:731288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28250454|PMID:28492532 12121488 DCC DCC netrin 1 receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2492 D RGD:9068941 20200609 RGD PMID:16998900|REF_RGD_ID:2314373 12121488 DCC DCC netrin 1 receptor gene DOID:9000117 Esophageal Neoplasms ISO RGD:731288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12121488 DCC DCC netrin 1 receptor gene DOID:9001668 Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 ISO RGD:731288 D RGD:7240710 20190315 OMIM 12121488 DCC DCC netrin 1 receptor gene DOID:9001668 Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 ISO RGD:731288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2 PMID:25741868|PMID:28250456|PMID:28492532 12121488 DCC DCC netrin 1 receptor gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:731288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:24808016|PMID:28250454 12121488 DCC DCC netrin 1 receptor gene DOID:9002570 Mirror Movements 1 ISO RGD:731288 D RGD:7240710 20180130 OMIM 12121488 DCC DCC netrin 1 receptor gene DOID:9002570 Mirror Movements 1 ISO RGD:731288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mirror movements 1 PMID:19127048|PMID:20431009|PMID:21681106|PMID:24808016|PMID:25741868|PMID:28250454|PMID:28492532|PMID:31697046|PMID:32870266 12121488 DCC DCC netrin 1 receptor gene DOID:9004009 Reperfusion Injury ISO RGD:2492 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17574219|REF_RGD_ID:2314372 12121488 DCC DCC netrin 1 receptor gene DOID:9004787 Familial Horizontal Gaze Palsy with Progressive Scoliosis ISO RGD:731288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28250456 12121488 DCC DCC netrin 1 receptor gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:2492 D RGD:9068941 20200609 RGD PMID:16337279|REF_RGD_ID:2314374 12121488 DCC DCC netrin 1 receptor gene DOID:9007462 Partial Agenesis of Corpus Callosum ISO RGD:731288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Partial agenesis of the corpus callosum PMID:25741868 12121488 DCC DCC netrin 1 receptor gene DOID:9008443 Colorectal Neoplasms ISO RGD:731288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15365072 12121488 DCC DCC netrin 1 receptor gene DOID:9256 colorectal cancer ISO RGD:731288 D RGD:7240710 20200226 OMIM 12121488 DCC DCC netrin 1 receptor gene DOID:9256 colorectal cancer ISO RGD:731288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25741868 12121525 TMED1 transmembrane p24 trafficking protein 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1354453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12121525 TMED1 transmembrane p24 trafficking protein 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1354453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12121525 TMED1 transmembrane p24 trafficking protein 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1354453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12121525 TMED1 transmembrane p24 trafficking protein 1 gene DOID:13810 familial hypercholesterolemia ISO RGD:1354453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:28492532 12121525 TMED1 transmembrane p24 trafficking protein 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1354453 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12121525 TMED1 transmembrane p24 trafficking protein 1 gene DOID:630 genetic disease ISO RGD:1354453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121536 AMOTL2 angiomotin like 2 gene DOID:630 genetic disease ISO RGD:737053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121536 AMOTL2 angiomotin like 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:737053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12121552 SNPH syntaphilin gene DOID:630 genetic disease ISO RGD:1314155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121577 OPRL1 opioid related nociceptin receptor 1 gene DOID:0060001 withdrawal disorder ISO RGD:68657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11027224 12121577 OPRL1 opioid related nociceptin receptor 1 gene DOID:11446 sciatic neuropathy ISO RGD:68438 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:15862535|REF_RGD_ID:9835022 12121577 OPRL1 opioid related nociceptin receptor 1 gene DOID:1574 alcohol use disorder ISO RGD:68438 D RGD:9068941 20200609 RGD PMID:11814626|REF_RGD_ID:9835016 12121577 OPRL1 opioid related nociceptin receptor 1 gene DOID:2560 morphine dependence ISO RGD:68657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11027224 12121577 OPRL1 opioid related nociceptin receptor 1 gene DOID:630 genetic disease ISO RGD:68657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121577 OPRL1 opioid related nociceptin receptor 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:68657 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16995444 12121577 OPRL1 opioid related nociceptin receptor 1 gene DOID:9000831 Hypokinesia ISO RGD:68657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20950413 12121577 OPRL1 opioid related nociceptin receptor 1 gene DOID:9001109 Anorexia treatment ISO RGD:68438 D RGD:9068941 20200609 RGD PMID:11981590|REF_RGD_ID:9835031 12121577 OPRL1 opioid related nociceptin receptor 1 gene DOID:9001600 Wounds and Injuries ISO RGD:68438 D RGD:9068941 20200609 RGD protein:decreased expression:hypothalamus: PMID:11931711|REF_RGD_ID:9835019 12121577 OPRL1 opioid related nociceptin receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:68438 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy;mRNA:increased expression:spinal cord lumbar segment,dorsal root ganglion: PMID:12106803|REF_RGD_ID:9835017 12121577 OPRL1 opioid related nociceptin receptor 1 gene DOID:9002916 Hyperphagia ISO RGD:68438 D RGD:9068941 20200609 RGD PMID:9669488|PMID:9808678|REF_RGD_ID:9831410|REF_RGD_ID:9835033 12121577 OPRL1 opioid related nociceptin receptor 1 gene DOID:9006302 Binge Drinking ISO RGD:68657 D RGD:9068941 20200609 RGD PMID:29197086|REF_RGD_ID:14348965 12121591 SDS serine dehydratase gene DOID:630 genetic disease ISO RGD:734053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121591 SDS serine dehydratase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734053 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12121598 ZRANB1 zinc finger RANBP2-type containing 1 gene DOID:630 genetic disease ISO RGD:1318817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121612 FAM169A family with sequence similarity 169 member A gene DOID:0080600 COVID-19 ISO RGD:2300032 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12121612 FAM169A family with sequence similarity 169 member A gene DOID:3323 Sandhoff disease ISO RGD:2300032 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 12121612 FAM169A family with sequence similarity 169 member A gene DOID:630 genetic disease ISO RGD:2300032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121612 FAM169A family with sequence similarity 169 member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2300032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12121633 MATN1 matrilin 1 gene DOID:630 genetic disease ISO RGD:1352772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121645 PPCDC phosphopantothenoylcysteine decarboxylase gene DOID:2717 Bloom syndrome ISO RGD:1605355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12121645 PPCDC phosphopantothenoylcysteine decarboxylase gene DOID:5419 schizophrenia ISO RGD:1605355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12121645 PPCDC phosphopantothenoylcysteine decarboxylase gene DOID:630 genetic disease ISO RGD:1605355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121645 PPCDC phosphopantothenoylcysteine decarboxylase gene DOID:9256 colorectal cancer ISO RGD:1605355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12121665 AHRR aryl hydrocarbon receptor repressor gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1348641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 12121665 AHRR aryl hydrocarbon receptor repressor gene DOID:10283 prostate cancer ISO RGD:1348641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12121665 AHRR aryl hydrocarbon receptor repressor gene DOID:630 genetic disease ISO RGD:1348641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121665 AHRR aryl hydrocarbon receptor repressor gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1348641 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 12121678 SFT2D2 SFT2 domain containing 2 gene DOID:0111942 immunodeficiency 25 ISO RGD:1605217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 12121678 SFT2D2 SFT2 domain containing 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1605217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12121678 SFT2D2 SFT2 domain containing 2 gene DOID:630 genetic disease ISO RGD:1605217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121678 SFT2D2 SFT2 domain containing 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12121728 ACRV1 acrosomal vesicle protein 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1351105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12121728 ACRV1 acrosomal vesicle protein 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1351105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12121728 ACRV1 acrosomal vesicle protein 1 gene DOID:10283 prostate cancer ISO RGD:1351105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12121728 ACRV1 acrosomal vesicle protein 1 gene DOID:5419 schizophrenia ISO RGD:1351105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12121728 ACRV1 acrosomal vesicle protein 1 gene DOID:630 genetic disease ISO RGD:1351105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121728 ACRV1 acrosomal vesicle protein 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12121728 ACRV1 acrosomal vesicle protein 1 gene DOID:9007661 Dwarfism ISO RGD:1351105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12121736 CCR10 C-C motif chemokine receptor 10 gene DOID:1824 status epilepticus ISO RGD:1606584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17181556 12121736 CCR10 C-C motif chemokine receptor 10 gene DOID:630 genetic disease ISO RGD:1606584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121745 NOP9 NOP9 nucleolar protein gene DOID:0060439 lysinuric protein intolerance ISO RGD:1318142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12121745 NOP9 NOP9 nucleolar protein gene DOID:630 genetic disease ISO RGD:1318142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121745 NOP9 NOP9 nucleolar protein gene DOID:9000265 Specific Granule Deficiency ISO RGD:1318142 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12121745 NOP9 NOP9 nucleolar protein gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1318142 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12121745 NOP9 NOP9 nucleolar protein gene DOID:9008939 Breast Neoplasms ISO RGD:1318142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 12121764 C7H1orf21 chromosome 7 C1orf21 homolog gene DOID:0080600 COVID-19 ISO RGD:1319257 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12121764 C7H1orf21 chromosome 7 C1orf21 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1319257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12121764 C7H1orf21 chromosome 7 C1orf21 homolog gene DOID:630 genetic disease ISO RGD:1319257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121764 C7H1orf21 chromosome 7 C1orf21 homolog gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1309104 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12121764 C7H1orf21 chromosome 7 C1orf21 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12121775 PEF1 penta-EF-hand domain containing 1 gene DOID:630 genetic disease ISO RGD:1605152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121784 C11H9orf131 chromosome 11 C9orf131 homolog gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1604527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12121784 C11H9orf131 chromosome 11 C9orf131 homolog gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1604527 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12121784 C11H9orf131 chromosome 11 C9orf131 homolog gene DOID:0080942 anauxetic dysplasia ISO RGD:1604527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12121784 C11H9orf131 chromosome 11 C9orf131 homolog gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1604527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12121784 C11H9orf131 chromosome 11 C9orf131 homolog gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1604527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12121784 C11H9orf131 chromosome 11 C9orf131 homolog gene DOID:630 genetic disease ISO RGD:1604527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121784 C11H9orf131 chromosome 11 C9orf131 homolog gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1604527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12121784 C11H9orf131 chromosome 11 C9orf131 homolog gene DOID:9562 primary ciliary dyskinesia ISO RGD:1604527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12121784 C11H9orf131 chromosome 11 C9orf131 homolog gene DOID:9870 galactosemia ISO RGD:1604527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12121791 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:1059 intellectual disability ISO RGD:1350551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12121791 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:12271 aniridia ISO RGD:1350551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 12121791 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:3764 Denys-Drash syndrome ISO RGD:1350551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Drash syndrome PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28492532 12121791 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:5419 schizophrenia ISO RGD:1350551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12121791 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:630 genetic disease ISO RGD:1350551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121791 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:9002455 Aniridia 1 ISO RGD:1350551 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aniridia 1 PMID:10737978|PMID:11284764|PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28231309|PMID:28492532 12121812 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736541 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12121812 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:736541 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12121812 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:736541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12121812 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:736541 D RGD:7240710 20180130 OMIM 12121812 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:736541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:17576681|PMID:18414213|PMID:19901254|PMID:23109149|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33129689|PMID:9536098 12121812 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736541 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12121812 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:736541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:15879500|PMID:20414677|PMID:28492532 12121812 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:630 genetic disease ISO RGD:736541 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121827 SPINT4 serine peptidase inhibitor, Kunitz type 4 gene DOID:2234 focal epilepsy ISO RGD:1603467 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12121827 SPINT4 serine peptidase inhibitor, Kunitz type 4 gene DOID:630 genetic disease ISO RGD:1603467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121827 SPINT4 serine peptidase inhibitor, Kunitz type 4 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1603467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12121834 TMEM204 transmembrane protein 204 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1350691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 12121834 TMEM204 transmembrane protein 204 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1350691 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:28492532 12121834 TMEM204 transmembrane protein 204 gene DOID:1826 epilepsy ISO RGD:1350691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12121834 TMEM204 transmembrane protein 204 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1350691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12121834 TMEM204 transmembrane protein 204 gene DOID:630 genetic disease ISO RGD:1350691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121843 XKR8 XK related 8 gene DOID:630 genetic disease ISO RGD:1602706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121850 ARRDC4 arrestin domain containing 4 gene DOID:630 genetic disease ISO RGD:1323388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121862 CALHM2 calcium homeostasis modulator family member 2 gene DOID:630 genetic disease ISO RGD:1317957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121884 OR11H12 olfactory receptor family 11 subfamily H member 12 gene DOID:630 genetic disease ISO RGD:1604898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121940 ASNS asparagine synthetase (glutamine-hydrolyzing) gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12121940 ASNS asparagine synthetase (glutamine-hydrolyzing) gene DOID:630 genetic disease ISO RGD:1343754 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:24139043|PMID:25741868|PMID:26395554|PMID:27422383|PMID:27522229|PMID:28492532|PMID:29405484|PMID:30057589|PMID:32255274|PMID:9536098 12121940 ASNS asparagine synthetase (glutamine-hydrolyzing) gene DOID:684 hepatocellular carcinoma ISO RGD:2162 D RGD:9068941 20200609 RGD protein:increased activity:serum (rat) PMID:10081|REF_RGD_ID:2316006 12121940 ASNS asparagine synthetase (glutamine-hydrolyzing) gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1343754 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 12121940 ASNS asparagine synthetase (glutamine-hydrolyzing) gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12121940 ASNS asparagine synthetase (glutamine-hydrolyzing) gene DOID:9002524 Asparagine Synthetase Deficiency ISO RGD:1343754 D RGD:7240710 20180130 OMIM 12121940 ASNS asparagine synthetase (glutamine-hydrolyzing) gene DOID:9002524 Asparagine Synthetase Deficiency ISO RGD:1343754 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ASNS DEFICIENCY | ClinVar Annotator: match by term: Asparagine synthetase deficiency PMID:16199547|PMID:24139043|PMID:25227173|PMID:25663424|PMID:25741868|PMID:25758715|PMID:26395554|PMID:27422383|PMID:27469131|PMID:27522229|PMID:27711071|PMID:28492532|PMID:28776279|PMID:29279279|PMID:29302074|PMID:29375865|PMID:29405484|PMID:30057589|PMID:30214071|PMID:30978478|PMID:31130284|PMID:32255274|PMID:32741967|PMID:32906196|PMID:33258288|PMID:33287870|PMID:34582790|PMID:34906502 12121940 ASNS asparagine synthetase (glutamine-hydrolyzing) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868|PMID:27522229|PMID:28492532 12121940 ASNS asparagine synthetase (glutamine-hydrolyzing) gene DOID:9007188 Liver Neoplasms ISO RGD:1343754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12121940 ASNS asparagine synthetase (glutamine-hydrolyzing) gene DOID:9455 lipid storage disease ISO RGD:1343754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17175557 12121962 PBXIP1 PBX homeobox interacting protein 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1313054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12121962 PBXIP1 PBX homeobox interacting protein 1 gene DOID:0080600 COVID-19 ISO RGD:1313054 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12121962 PBXIP1 PBX homeobox interacting protein 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1313054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12121962 PBXIP1 PBX homeobox interacting protein 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1313054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12121962 PBXIP1 PBX homeobox interacting protein 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1313054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12121962 PBXIP1 PBX homeobox interacting protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1313054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12121962 PBXIP1 PBX homeobox interacting protein 1 gene DOID:5812 MHC class II deficiency ISO RGD:1313054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12121962 PBXIP1 PBX homeobox interacting protein 1 gene DOID:630 genetic disease ISO RGD:1313054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12121962 PBXIP1 PBX homeobox interacting protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12121982 TESK2 testis associated actin remodelling kinase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:734237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12121982 TESK2 testis associated actin remodelling kinase 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:734237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12121982 TESK2 testis associated actin remodelling kinase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:734237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12121982 TESK2 testis associated actin remodelling kinase 2 gene DOID:630 genetic disease ISO RGD:734237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122003 EIF3G eukaryotic translation initiation factor 3 subunit G gene DOID:630 genetic disease ISO RGD:1316234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122003 EIF3G eukaryotic translation initiation factor 3 subunit G gene DOID:9004136 Cataplexy and Narcolepsy ISO RGD:1316234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataplexy and narcolepsy PMID:25669430 12122019 SLC39A1 solute carrier family 39 member 1 gene DOID:0060496 respiratory allergy ISO RGD:1313154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085522 12122019 SLC39A1 solute carrier family 39 member 1 gene DOID:0070048 GAND syndrome ISO RGD:1313154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 12122019 SLC39A1 solute carrier family 39 member 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1313154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12122019 SLC39A1 solute carrier family 39 member 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1313154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12122019 SLC39A1 solute carrier family 39 member 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1313154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12122019 SLC39A1 solute carrier family 39 member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1313154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12122019 SLC39A1 solute carrier family 39 member 1 gene DOID:5812 MHC class II deficiency ISO RGD:1313154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12122019 SLC39A1 solute carrier family 39 member 1 gene DOID:630 genetic disease ISO RGD:1313154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122019 SLC39A1 solute carrier family 39 member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16700911|PMID:19208208 12122019 SLC39A1 solute carrier family 39 member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12122035 MIR671 microRNA mir-671 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:2290267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 12122035 MIR671 microRNA mir-671 gene DOID:2843 long QT syndrome ISO RGD:2290267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 12122035 MIR671 microRNA mir-671 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:2290267 D RGD:9068941 20220317 RGD PMID:30664171|REF_RGD_ID:151665171 12122035 MIR671 microRNA mir-671 gene DOID:630 genetic disease ISO RGD:2290267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122035 MIR671 microRNA mir-671 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2290267 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12122044 KCNB2 potassium voltage-gated channel subfamily B member 2 gene DOID:630 genetic disease ISO RGD:732631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122044 KCNB2 potassium voltage-gated channel subfamily B member 2 gene DOID:9256 colorectal cancer ISO RGD:732631 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Colorectal cancer 12122049 FAM221B family with sequence similarity 221 member B gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1321320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12122049 FAM221B family with sequence similarity 221 member B gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1321320 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12122049 FAM221B family with sequence similarity 221 member B gene DOID:0080942 anauxetic dysplasia ISO RGD:1321320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12122049 FAM221B family with sequence similarity 221 member B gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1321320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12122049 FAM221B family with sequence similarity 221 member B gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1321320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12122049 FAM221B family with sequence similarity 221 member B gene DOID:630 genetic disease ISO RGD:1321320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122049 FAM221B family with sequence similarity 221 member B gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1321320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12122049 FAM221B family with sequence similarity 221 member B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12122049 FAM221B family with sequence similarity 221 member B gene DOID:9870 galactosemia ISO RGD:1321320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12122079 SCIN scinderin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12122079 SCIN scinderin gene DOID:630 genetic disease ISO RGD:1350815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122096 CAV2 caveolin 2 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1343117 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of tongue PMID:20558341|REF_RGD_ID:8661771 12122096 CAV2 caveolin 2 gene DOID:0060224 atrial fibrillation ISO RGD:1343117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062060 12122096 CAV2 caveolin 2 gene DOID:1067 open-angle glaucoma ISO RGD:1343117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20835238 12122096 CAV2 caveolin 2 gene DOID:1070 primary open angle glaucoma ISO RGD:1343117 D RGD:9068941 20200609 RGD DNA:SNPs: :rs10278782, rs1052990 (human) PMID:24572674|REF_RGD_ID:8661770 12122096 CAV2 caveolin 2 gene DOID:13544 low tension glaucoma susceptibility ISO RGD:1343117 D RGD:9068941 20200609 RGD DNA:SNP: :rs1052990 (human) PMID:23743525|REF_RGD_ID:8661774 12122096 CAV2 caveolin 2 gene DOID:3070 high grade glioma ISO RGD:620348 D RGD:9068941 20200609 RGD PMID:22528460|REF_RGD_ID:6784517 12122096 CAV2 caveolin 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12122096 CAV2 caveolin 2 gene DOID:630 genetic disease ISO RGD:1343117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122096 CAV2 caveolin 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1343117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 12122096 CAV2 caveolin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15583422 12122096 CAV2 caveolin 2 gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:620348 D RGD:9068941 20200609 RGD PMID:17060028|REF_RGD_ID:1625364 12122096 CAV2 caveolin 2 gene DOID:9970 obesity ISO RGD:620348 D RGD:9068941 20200609 RGD PMID:22492718|REF_RGD_ID:6784520 12122108 SMAD1 SMAD family member 1 gene DOID:0060001 withdrawal disorder ISO RGD:1353457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 12122108 SMAD1 SMAD family member 1 gene DOID:0080600 COVID-19 ISO RGD:1353457 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12122108 SMAD1 SMAD family member 1 gene DOID:1184 nephrotic syndrome ISO RGD:3030 D RGD:9068941 20200609 RGD PMID:17803470|REF_RGD_ID:1643224 12122108 SMAD1 SMAD family member 1 gene DOID:12336 male infertility ISO RGD:3030 D RGD:9068941 20200609 RGD protein:decreased expression:spermatogonia, spermatocytes, spermatids PMID:15704675|REF_RGD_ID:1643234 12122108 SMAD1 SMAD family member 1 gene DOID:2921 glomerulonephritis ISO RGD:3030 D RGD:9068941 20200609 RGD protein:increased phosphorylation:glomerulus PMID:15591053|REF_RGD_ID:1643235 12122108 SMAD1 SMAD family member 1 gene DOID:2999 granulosa cell tumor ISO RGD:734156 D RGD:9068941 20200609 RGD PMID:17967875|REF_RGD_ID:2299978 12122108 SMAD1 SMAD family member 1 gene DOID:630 genetic disease ISO RGD:1353457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122108 SMAD1 SMAD family member 1 gene DOID:6432 pulmonary hypertension ISO RGD:3030 D RGD:9068941 20200609 RGD protein:decreased expression, increased phosphorylation:lung PMID:18367643|REF_RGD_ID:12903274 12122108 SMAD1 SMAD family member 1 gene DOID:6432 pulmonary hypertension ISO RGD:3030 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:lung, vascular associated smooth muscle cell PMID:17347486|REF_RGD_ID:1643222 12122108 SMAD1 SMAD family member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3030 D RGD:9068941 20200609 RGD PMID:16447265|REF_RGD_ID:1643229 12122108 SMAD1 SMAD family member 1 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:3030 D RGD:9068941 20200609 RGD mRNA:increased expression:hypoglossal nucleus PMID:17166487|REF_RGD_ID:1643227 12122108 SMAD1 SMAD family member 1 gene DOID:9004207 Testicular Neoplasms ISO RGD:734156 D RGD:9068941 20200609 RGD PMID:17967875|REF_RGD_ID:2299978 12122108 SMAD1 SMAD family member 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1353457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 12122108 SMAD1 SMAD family member 1 gene DOID:9005643 Experimental Diabetes Mellitus severity ISO RGD:3030 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus, urine PMID:16482100|REF_RGD_ID:1643228 12122108 SMAD1 SMAD family member 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1353457 D RGD:9068941 20200609 RGD PMID:15911698|REF_RGD_ID:1643233 12122108 SMAD1 SMAD family member 1 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1353457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:21898662|PMID:26387786 12122128 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1344203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27694961 12122128 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:0060041 autism spectrum disorder ISO RGD:1344203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12122128 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1344203 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 12122128 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:0111988 immunodeficiency 12 ISO RGD:1344203 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 12122128 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:1059 intellectual disability ISO RGD:1344203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:27694961|PMID:28492532|PMID:32117442 12122128 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:10763 hypertension ISO RGD:1344203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18524855|PMID:23348737 12122128 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:10892 hypospadias ISO RGD:1551161 D RGD:9068941 20230302 RGD protein:decreased expression:urethra PMID:32413360|REF_RGD_ID:156431051 12122128 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:11193 syndactyly ISO RGD:1344203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27694961 12122128 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:12930 dilated cardiomyopathy ISO RGD:1344203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28701297 12122128 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:1826 epilepsy ISO RGD:1344203 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure 12122128 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:289 endometriosis ISO RGD:1344203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12122128 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:1344203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12122128 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:674 cleft palate ISO RGD:1344203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27694961 12122128 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:9001678 Periventricular Nodular Heterotopia 7 ISO RGD:1344203 D RGD:7240710 20190315 OMIM 12122128 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:9001678 Periventricular Nodular Heterotopia 7 ISO RGD:1344203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 | ClinVar Annotator: match by term: Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay PMID:25741868|PMID:27694961|PMID:28492532|PMID:28515470|PMID:32117442|PMID:32238909 12122128 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:9007096 Stroke ISO RGD:735047 D RGD:9068941 20200609 RGD PMID:22417925|REF_RGD_ID:6893327 12122128 NEDD4L NEDD4 like E3 ubiquitin protein ligase gene DOID:9008582 Developmental Disease ISO RGD:1344203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12122185 FUZ fuzzy planar cell polarity protein gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1602203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:29068549 12122185 FUZ fuzzy planar cell polarity protein gene DOID:0080074 neural tube defect ISO RGD:1602203 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: Neural tube defects, susceptibility to PMID:21840926|PMID:25741868|PMID:28492532 12122185 FUZ fuzzy planar cell polarity protein gene DOID:0080074 neural tube defect susceptibility ISO RGD:1602203 D RGD:7240710 20190502 OMIM 12122185 FUZ fuzzy planar cell polarity protein gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1602203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12122185 FUZ fuzzy planar cell polarity protein gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1602203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:29068549 12122185 FUZ fuzzy planar cell polarity protein gene DOID:630 genetic disease ISO RGD:1602203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122212 MED4 mediator complex subunit 4 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1354139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12122212 MED4 mediator complex subunit 4 gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1354139 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:17301081|PMID:26475597|PMID:28492532 12122212 MED4 mediator complex subunit 4 gene DOID:1059 intellectual disability ISO RGD:1354139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12122212 MED4 mediator complex subunit 4 gene DOID:289 endometriosis ISO RGD:1354139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12122212 MED4 mediator complex subunit 4 gene DOID:4362 cervical cancer severity ISO RGD:1354139 D RGD:9068941 20200609 RGD mRNA:decreased expression:uterine cervix (human) PMID:19911042|REF_RGD_ID:12880436 12122212 MED4 mediator complex subunit 4 gene DOID:630 genetic disease ISO RGD:1354139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122212 MED4 mediator complex subunit 4 gene DOID:768 retinoblastoma ISO RGD:1354139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:14722923|PMID:15877282|PMID:17096365|PMID:17301081|PMID:22180099|PMID:26475597|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 12122212 MED4 mediator complex subunit 4 gene DOID:768 retinoblastoma ISO RGD:1354139 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:14722923|PMID:17096365|PMID:22180099|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 12122223 EPS8 epidermal growth factor receptor pathway substrate 8 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1321587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:25741868|PMID:30303587 12122223 EPS8 epidermal growth factor receptor pathway substrate 8 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1321587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12122223 EPS8 epidermal growth factor receptor pathway substrate 8 gene DOID:0080261 autosomal recessive nonsyndromic deafness 106 ISO RGD:1321587 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 106 PMID:25741868|PMID:28492532 12122223 EPS8 epidermal growth factor receptor pathway substrate 8 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1321587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12122223 EPS8 epidermal growth factor receptor pathway substrate 8 gene DOID:0080600 COVID-19 ISO RGD:1321587 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12122223 EPS8 epidermal growth factor receptor pathway substrate 8 gene DOID:0110463 autosomal recessive nonsyndromic deafness 102 ISO RGD:1321587 D RGD:7240710 20180130 OMIM 12122223 EPS8 epidermal growth factor receptor pathway substrate 8 gene DOID:0110463 autosomal recessive nonsyndromic deafness 102 ISO RGD:1321587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 102 PMID:24033266|PMID:24741995|PMID:25741868|PMID:28492532|PMID:30303587 12122223 EPS8 epidermal growth factor receptor pathway substrate 8 gene DOID:630 genetic disease ISO RGD:1321587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12122223 EPS8 epidermal growth factor receptor pathway substrate 8 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1321587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19799886 12122223 EPS8 epidermal growth factor receptor pathway substrate 8 gene DOID:9008681 Deafness ISO RGD:1321587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness PMID:24033266|PMID:25741868|PMID:28492532|PMID:30303587 12122249 PDLIM1 PDZ and LIM domain 1 gene DOID:630 genetic disease ISO RGD:68448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122261 LSG1 large 60S subunit nuclear export GTPase 1 gene DOID:630 genetic disease ISO RGD:1605064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122261 LSG1 large 60S subunit nuclear export GTPase 1 gene DOID:9000998 Brain Injuries ISO RGD:1605064 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14499481 12122278 PSMD2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1313972 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12122278 PSMD2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1313972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12122278 PSMD2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene DOID:0111546 Currarino syndrome ISO RGD:1313972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12122278 PSMD2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene DOID:630 genetic disease ISO RGD:1313972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122303 LOC479902 methylosome protein 50 gene DOID:630 genetic disease ISO RGD:1604293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122303 LOC479902 methylosome protein 50 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1604293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22022581 12122317 RBBP8 RB binding protein 8, endonuclease gene DOID:0050569 Seckel syndrome ISO RGD:1317354 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seckel syndrome PMID:28492532 12122317 RBBP8 RB binding protein 8, endonuclease gene DOID:0070013 Seckel syndrome 2 ISO RGD:1317354 D RGD:7240710 20180130 OMIM 12122317 RBBP8 RB binding protein 8, endonuclease gene DOID:0070013 Seckel syndrome 2 ISO RGD:1317354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RBBP8-Related Disorders | ClinVar Annotator: match by term: Seckel syndrome 2 PMID:11781686|PMID:16199547|PMID:18414213|PMID:24389050|PMID:25741868|PMID:27848944|PMID:28492532 12122317 RBBP8 RB binding protein 8, endonuclease gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1317354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 12122317 RBBP8 RB binding protein 8, endonuclease gene DOID:0080600 COVID-19 ISO RGD:1317354 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12122317 RBBP8 RB binding protein 8, endonuclease gene DOID:1059 intellectual disability ISO RGD:1317354 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12122317 RBBP8 RB binding protein 8, endonuclease gene DOID:10907 microcephaly ISO RGD:1317354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12122317 RBBP8 RB binding protein 8, endonuclease gene DOID:4905 pancreatic carcinoma ISO RGD:1317354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:28492532|PMID:9811458 12122317 RBBP8 RB binding protein 8, endonuclease gene DOID:630 genetic disease ISO RGD:1317354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:32379725|PMID:9536098 12122317 RBBP8 RB binding protein 8, endonuclease gene DOID:9008107 Microcephaly with Mental Retardation and Digital Anomalies ISO RGD:1317354 D RGD:7240710 20180130 OMIM 12122317 RBBP8 RB binding protein 8, endonuclease gene DOID:9008107 Microcephaly with Mental Retardation and Digital Anomalies ISO RGD:1317354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Jawad syndrome PMID:18071751|PMID:21998596|PMID:24389050|PMID:25741868|PMID:27848944|PMID:28492532|PMID:32379725 12122347 CSDC2 cold shock domain containing C2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1603657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12122347 CSDC2 cold shock domain containing C2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1603657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 12122347 CSDC2 cold shock domain containing C2 gene DOID:630 genetic disease ISO RGD:1603657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122355 APOL6 apolipoprotein L6 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1353798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12122355 APOL6 apolipoprotein L6 gene DOID:630 genetic disease ISO RGD:1353798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122355 APOL6 apolipoprotein L6 gene DOID:9001488 Human Influenza ISO RGD:1353798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12122366 CD72 CD72 molecule gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1320264 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12122366 CD72 CD72 molecule gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1320264 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12122366 CD72 CD72 molecule gene DOID:0080942 anauxetic dysplasia ISO RGD:1320264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12122366 CD72 CD72 molecule gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1320264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12122366 CD72 CD72 molecule gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1320264 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12122366 CD72 CD72 molecule gene DOID:630 genetic disease ISO RGD:1320264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122366 CD72 CD72 molecule gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1320264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12122366 CD72 CD72 molecule gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320264 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12122366 CD72 CD72 molecule gene DOID:9870 galactosemia ISO RGD:1320264 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12122380 GALNT11 polypeptide N-acetylgalactosaminyltransferase 11 gene DOID:0080598 Kleefstra syndrome 2 ISO RGD:1346736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 2 12122380 GALNT11 polypeptide N-acetylgalactosaminyltransferase 11 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1346736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:18348270|PMID:25606385|PMID:28492532 12122380 GALNT11 polypeptide N-acetylgalactosaminyltransferase 11 gene DOID:11372 megacolon ISO RGD:1346736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12122380 GALNT11 polypeptide N-acetylgalactosaminyltransferase 11 gene DOID:2843 long QT syndrome ISO RGD:1346736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12122380 GALNT11 polypeptide N-acetylgalactosaminyltransferase 11 gene DOID:630 genetic disease ISO RGD:1346736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122408 STK17A serine/threonine kinase 17a gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1342550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12122408 STK17A serine/threonine kinase 17a gene DOID:630 genetic disease ISO RGD:1342550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122420 OR10H2 olfactory receptor family 10 subfamily H member 2 gene DOID:630 genetic disease ISO RGD:1353311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:0080351 CLOVES syndrome ISO RGD:731958 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: CLOVE SYNDROME PMID:25741868|PMID:34040190 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:0081139 agammaglobulinemia 7 ISO RGD:731958 D RGD:7240710 20180130 OMIM 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:0081139 agammaglobulinemia 7 ISO RGD:731958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 7, autosomal recessive PMID:18414213|PMID:22351933|PMID:24033266|PMID:25133428|PMID:25741868|PMID:28492532 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:0111454 SHORT syndrome ISO RGD:731958 D RGD:7240710 20180130 OMIM 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:0111454 SHORT syndrome ISO RGD:731958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SHORT syndrome PMID:10768093|PMID:11135494|PMID:12514365|PMID:16199547|PMID:17576681|PMID:18384141|PMID:18414213|PMID:22351933|PMID:23810378|PMID:23810379|PMID:23810382|PMID:23980586|PMID:24033266|PMID:24088041|PMID:24459181|PMID:24728327|PMID:24886349|PMID:25133428|PMID:25157968|PMID:25326637|PMID:25488983|PMID:25741868|PMID:25939554|PMID:26497935|PMID:26529633|PMID:26633545|PMID:26974159|PMID:269880|PMID:27076228|PMID:27116393|PMID:27221134|PMID:27693481|PMID:27766312|PMID:28104464|PMID:28143957|PMID:28302518|PMID:28492532|PMID:28632845|PMID:29051493|PMID:29178053|PMID:29636477|PMID:29740032|PMID:32499645|PMID:34008892|PMID:6407320|PMID:7705412|PMID:8574420|PMID:9536098 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:0111949 immunodeficiency 36 ISO RGD:731958 D RGD:7240710 20180130 OMIM 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:0111949 immunodeficiency 36 ISO RGD:731958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 36 PMID:11135494|PMID:12514365|PMID:18384141|PMID:18414213|PMID:22351933|PMID:23810378|PMID:23810379|PMID:23810382|PMID:23980586|PMID:24033266|PMID:24886349|PMID:25133428|PMID:25326637|PMID:25488983|PMID:25741868|PMID:25939554|PMID:26529633|PMID:26974159|PMID:269880|PMID:27076228|PMID:27116393|PMID:27221134|PMID:27693481|PMID:27766312|PMID:28104464|PMID:28302518|PMID:28492532|PMID:28632845|PMID:34008892|PMID:6407320|PMID:7705412|PMID:8574420 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:10283 prostate cancer ISO RGD:731958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:731958 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:lower in high versus low Gleason score tumors (p<0.05 compared to at least one housekeeping gene) PMID:18336616|REF_RGD_ID:2301729 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:10603 glucose intolerance ISO RGD:731958 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:33567340 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:731958 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M326I (human) PMID:12185156|REF_RGD_ID:1625215 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:10762 portal hypertension ISO RGD:3329 D RGD:9068941 20200609 RGD protein:altered localization, increased tyrosine phosphorylation:plasma membrane, stomach mucosa PMID:11826414|REF_RGD_ID:1625216 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:10763 hypertension ISO RGD:3329 D RGD:9068941 20200609 RGD PMID:19015400|REF_RGD_ID:4108483 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:10763 hypertension ISO RGD:3329 D RGD:9068941 20200609 RGD protein:decreased expression:ventricular myocyte (rat) PMID:18300869|REF_RGD_ID:4108492 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:12306 vitiligo ISO RGD:731958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28836394 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:1380 endometrial cancer ISO RGD:731958 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:21984976|REF_RGD_ID:13674179 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:14179 X-linked agammaglobulinemia ISO RGD:11103 D RGD:9068941 20220825 MouseDO OMIM:300310 | OMIM:300755 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:14566 disease of cellular proliferation ISO RGD:731958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:19962457|PMID:22351933|PMID:24459181|PMID:25133428|PMID:25157968|PMID:26619011|PMID:28104464|PMID:28492532|PMID:29051493 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:1909 melanoma ISO RGD:731958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:25157968|PMID:26619011 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:2870 endometrial adenocarcinoma ISO RGD:731958 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:21478295|REF_RGD_ID:13441595 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:2871 endometrial carcinoma ISO RGD:731958 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:23636398|REF_RGD_ID:13628733 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:305 carcinoma ISO RGD:731958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:3068 glioblastoma ISO RGD:731958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:19962457|PMID:25157968|PMID:26619011 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:363 uterine cancer ISO RGD:731958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:25157968|PMID:26619011 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:3910 lung adenocarcinoma ISO RGD:731958 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:26695082|REF_RGD_ID:13464334 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:731958 D RGD:9068941 20200609 RGD PMID:25757764|REF_RGD_ID:13504823 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:731958 D RGD:9068941 20200609 RGD DNA:SNPs: :rs3756668,rs12755(human) PMID:28280736|REF_RGD_ID:13825123 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:612 primary immunodeficiency disease ISO RGD:731958 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:16199547|PMID:22351933|PMID:25133428|PMID:25488983|PMID:25741868|PMID:25939554|PMID:27076228|PMID:27116393|PMID:27693481|PMID:28302518|PMID:28492532|PMID:32499645 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:731958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:19962457|PMID:25157968|PMID:26619011 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:630 genetic disease ISO RGD:731958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11135494|PMID:12514365|PMID:18384141|PMID:22351933|PMID:23810378|PMID:23810379|PMID:23810382|PMID:23980586|PMID:24886349|PMID:25133428|PMID:25326637|PMID:25488983|PMID:25741868|PMID:25939554|PMID:26529633|PMID:26974159|PMID:269880|PMID:27076228|PMID:27116393|PMID:27221134|PMID:27693481|PMID:27766312|PMID:28302518|PMID:28492532|PMID:28632845|PMID:34008892|PMID:6407320|PMID:7705412|PMID:8574420 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:3329 D RGD:9068941 20220520 RGD PMID:25999787|PMID:31801250|REF_RGD_ID:151893509|REF_RGD_ID:152177911 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:7148 rheumatoid arthritis ISO RGD:731958 D RGD:9068941 20220519 RGD mRNA:increased expression:cartilage tissue (human) PMID:31472145|REF_RGD_ID:152177908 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:7305 astroblastoma ISO RGD:731958 D RGD:9068941 20200609 RGD PMID:26956052|REF_RGD_ID:11343921 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:7305 astroblastoma severity ISO RGD:731958 D RGD:9068941 20200609 RGD PMID:26286747|REF_RGD_ID:13782052 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:8398 osteoarthritis ISO RGD:731958 D RGD:9068941 20220519 RGD mRNA:increased expression:cartilage tissue (human) PMID:31472145|REF_RGD_ID:152177908 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:8584 Burkitt lymphoma ISO RGD:731958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:8923 skin melanoma ISO RGD:731958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:19962457|PMID:25157968|PMID:26619011 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731958 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:29610475|PMID:29662167|PMID:33129824 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9002992 Nematode Infections susceptibility ISO RGD:11103 D RGD:9068941 20200609 RGD PMID:11850627|REF_RGD_ID:737789 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3329 D RGD:9068941 20200609 RGD proetin:decreased dimerization:skeletal muscle (rat) PMID:19100383|REF_RGD_ID:4108481 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3329 D RGD:9068941 20200609 RGD protein:increased expression:gastrocnemius (rat) PMID:18430054|REF_RGD_ID:2307338 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9007367 Septic Peritonitis treatment ISO RGD:11103 D RGD:9068941 20200609 RGD PMID:11850627|REF_RGD_ID:737789 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9007502 Brain Neoplasms ISO RGD:731958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain PMID:19962457|PMID:25157968|PMID:26619011 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9007692 Insulin Resistance ISO RGD:11103 D RGD:9068941 20200609 RGD PMID:17283057|REF_RGD_ID:1625211 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9007692 Insulin Resistance ISO RGD:3329 D RGD:9068941 20200609 RGD PMID:10426374|REF_RGD_ID:1625262 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9007692 Insulin Resistance ISO RGD:731958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14714311 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9007692 Insulin Resistance ISO RGD:731958 D RGD:9068941 20200609 RGD associated with Pre-Eclampsia;protein:increased tyrosine phosphorylation:placenta PMID:16332940|REF_RGD_ID:1625212 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:25157968|PMID:26619011 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9008939 Breast Neoplasms ISO RGD:11103 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary tumor (mouse) PMID:17699716|REF_RGD_ID:4108502 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9256 colorectal cancer ISO RGD:731958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25741868 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3329 D RGD:9068941 20200609 RGD protein:increased phosphorylation:retina (rat) PMID:18443201|REF_RGD_ID:4108490 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:731958 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:14551916|REF_RGD_ID:11067972 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9970 obesity ISO RGD:11103 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:skeletal muscle, liver PMID:9399964|REF_RGD_ID:1625218 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9970 obesity ISO RGD:3329 D RGD:9068941 20200609 RGD protein:decreased expression:soleus PMID:16123202|REF_RGD_ID:1625220 12122424 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9993 hypoglycemia ISO RGD:11103 D RGD:9068941 20200609 RGD PMID:9988280|REF_RGD_ID:737788 12122454 PLA2G2F phospholipase A2 group IIF gene DOID:0060369 Parkinson's disease 6 ISO RGD:1322150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12122454 PLA2G2F phospholipase A2 group IIF gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1322150 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12122454 PLA2G2F phospholipase A2 group IIF gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1322150 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12122454 PLA2G2F phospholipase A2 group IIF gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1322150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12122454 PLA2G2F phospholipase A2 group IIF gene DOID:630 genetic disease ISO RGD:1322150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122454 PLA2G2F phospholipase A2 group IIF gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1322150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12122462 FBXO45 F-box protein 45 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1349858 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 12122462 FBXO45 F-box protein 45 gene DOID:12849 autistic disorder ISO RGD:1349858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12122462 FBXO45 F-box protein 45 gene DOID:5419 schizophrenia ISO RGD:1349858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12122462 FBXO45 F-box protein 45 gene DOID:630 genetic disease ISO RGD:1349858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122468 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:733681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12122468 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:0060041 autism spectrum disorder ISO RGD:733681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12122468 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:733681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12122468 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:733681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12122468 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:733681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12122468 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:733681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12122468 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:0110994 Joubert syndrome 25 ISO RGD:733681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12122468 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:0111292 idiopathic generalized epilepsy 10 ISO RGD:733681 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 10 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 10 PMID:15115768|PMID:16023832|PMID:16256272|PMID:16452673|PMID:17559416|PMID:23216579|PMID:25194483|PMID:25741868|PMID:26467025|PMID:28383543|PMID:28492532|PMID:34633442 12122468 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:0111292 idiopathic generalized epilepsy 10 susceptibility ISO RGD:733681 D RGD:7240710 20190904 OMIM 12122468 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:0111934 immunodeficiency 38 ISO RGD:733681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12122468 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:0111935 immunodeficiency 16 ISO RGD:733681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12122468 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:1059 intellectual disability ISO RGD:733681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12122468 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:1826 epilepsy ISO RGD:733681 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12122468 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:1827 idiopathic generalized epilepsy ISO RGD:733681 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:15115768|PMID:16023832|PMID:16256272|PMID:16452673|PMID:17559416|PMID:17576681|PMID:20352446|PMID:23216579|PMID:24249596|PMID:25741868|PMID:26467025|PMID:28383543|PMID:28492532|PMID:9536098 12122468 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:5419 schizophrenia ISO RGD:733681 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18923069 12122468 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:630 genetic disease ISO RGD:733681 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12122468 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:684 hepatocellular carcinoma ISO RGD:733681 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12122468 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:9000804 Intellectual Developmental Disorder with Seizures and Language Delay ISO RGD:733681 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with seizures and language delay PMID:25741868 12122468 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:9001793 Generalized Epilepsy ISO RGD:733681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:28492532 12122468 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12122468 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:9006930 Generalized Epilepsy with Febrile Seizures Plus, Type 5 ISO RGD:733681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus type 5 PMID:15115768|PMID:16023832|PMID:16256272|PMID:16452673|PMID:17559416|PMID:23216579|PMID:26467025|PMID:28383543|PMID:28492532 12122468 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:733681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12122468 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:733681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12122468 GABRD gamma-aminobutyric acid type A receptor subunit delta gene DOID:9478 postpartum depression ISO RGD:62194 D RGD:9068941 20220825 MouseDO 12122492 LGR6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1353750 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:32215045 12122492 LGR6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:0080600 COVID-19 ISO RGD:1353750 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12122492 LGR6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:0111081 Fanconi anemia complementation group T ISO RGD:1353750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group T PMID:26046368 12122492 LGR6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1353750 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12122492 LGR6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1353750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12122492 LGR6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:1749 squamous cell carcinoma ISO RGD:1353750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28945253 12122492 LGR6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:630 genetic disease ISO RGD:1353750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122492 LGR6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1353750 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12122492 LGR6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1353750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 12122492 LGR6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:9008939 Breast Neoplasms ISO RGD:1353750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:23535733 12122492 LGR6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12122519 MIGA2 mitoguardin 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1322047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12122519 MIGA2 mitoguardin 2 gene DOID:630 genetic disease ISO RGD:1322047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122538 RNF122 ring finger protein 122 gene DOID:630 genetic disease ISO RGD:1352221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122548 CDC42EP5 CDC42 effector protein 5 gene DOID:630 genetic disease ISO RGD:1318117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122555 BCAN brevican gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:736888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12122555 BCAN brevican gene DOID:0111940 immunodeficiency 42 ISO RGD:736888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12122555 BCAN brevican gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:736888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12122555 BCAN brevican gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:736888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12122555 BCAN brevican gene DOID:10584 retinitis pigmentosa severity ISO RGD:736888 D RGD:9068941 20200609 RGD PMID:29150673|REF_RGD_ID:14392802 12122555 BCAN brevican gene DOID:10652 Alzheimer's disease ISO RGD:10227 D RGD:9068941 20200609 RGD protein:altered modification:brain PMID:20180882|REF_RGD_ID:14392785 12122555 BCAN brevican gene DOID:1540 parathyroid carcinoma ISO RGD:736888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12122555 BCAN brevican gene DOID:3070 high grade glioma ISO RGD:2194 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:12799382|REF_RGD_ID:14392782 12122555 BCAN brevican gene DOID:3070 high grade glioma ISO RGD:736888 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:16061654|REF_RGD_ID:14392797 12122555 BCAN brevican gene DOID:3070 high grade glioma severity ISO RGD:2194 D RGD:9068941 20200609 RGD PMID:11585735|REF_RGD_ID:14392783 12122555 BCAN brevican gene DOID:3070 high grade glioma severity ISO RGD:736888 D RGD:9068941 20200609 RGD PMID:23253190|REF_RGD_ID:14392804 12122555 BCAN brevican gene DOID:3525 middle cerebral artery infarction ISO RGD:2194 D RGD:9068941 20200609 RGD PMID:15869933|REF_RGD_ID:9590118 12122555 BCAN brevican gene DOID:5812 MHC class II deficiency ISO RGD:736888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12122555 BCAN brevican gene DOID:630 genetic disease ISO RGD:736888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122555 BCAN brevican gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2194 D RGD:9068941 20200609 RGD PMID:15016081|REF_RGD_ID:9589823 12122555 BCAN brevican gene DOID:9000115 Posthemorrhagic Hydrocephalus treatment ISO RGD:736888 D RGD:9068941 20200609 RGD PMID:22186713|REF_RGD_ID:6483013 12122555 BCAN brevican gene DOID:9002189 High Myopia ISO RGD:736888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12122555 BCAN brevican gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2194 D RGD:9068941 20200609 RGD PMID:15817274|REF_RGD_ID:14392799 12122555 BCAN brevican gene DOID:9008941 Muscle Hypertonia IAGP D RGD:12801476 20230118 OMIA Episodic falling PMID:6868317|PMID:21821125|PMID:22253609|PMID:30650096|PMID:25441627|PMID:3680644|PMID:3716135|PMID:15971896|PMID:36086931 12122555 BCAN brevican gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12122602 AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1314029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 12122602 AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:1314029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12122602 AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:12849 autistic disorder ISO RGD:1314029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12122602 AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:1289 neurodegenerative disease ISO RGD:1314029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 12122602 AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:630 genetic disease ISO RGD:1314029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122602 AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1314029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12122602 AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12122602 AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:9263 homocystinuria ISO RGD:1314029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12122602 AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1314029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12122616 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:737195 D RGD:9068941 20200609 RGD PMID:12145210|REF_RGD_ID:1549449 12122616 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:0050861 colorectal adenocarcinoma ISO RGD:737195 D RGD:9068941 20220204 RGD protein:increased expression:colorectal mucosa (human) PMID:10874008|REF_RGD_ID:151347670 12122616 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:737195 D RGD:9068941 20220825 RGD protein:increased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 12122616 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:0050866 oral squamous cell carcinoma ISO RGD:737195 D RGD:9068941 20220204 RGD associated with papillomavirus infectious disease;protein:increased expression:oral cavity (human) PMID:28155253|REF_RGD_ID:151347666 12122616 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:0050990 episodic ataxia type 2 ISO RGD:737195 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12122616 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:737195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12122616 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:0111254 glutaric acidemia I ISO RGD:737195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12122616 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:1824 status epilepticus ISO RGD:737195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7984056 12122616 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:1909 melanoma treatment ISO RGD:737195 D RGD:9068941 20220204 RGD human cell line in a mouse model PMID:28976960|REF_RGD_ID:151347671 12122616 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:219 colon cancer ISO RGD:737195 D RGD:9068941 20220204 RGD RNA:decreased expression:colon (human) PMID:11751871|REF_RGD_ID:151347667 12122616 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:3121 gallbladder cancer exacerbates ISO RGD:737195 D RGD:9068941 20220204 RGD protein:increased expression:gall bladder (human) PMID:26318166|REF_RGD_ID:11528126 12122616 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:3413 alpha-mannosidosis ISO RGD:737195 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12122616 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:3525 middle cerebral artery infarction ISO RGD:737195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 12122616 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737195 D RGD:9068941 20220204 RGD protein:increased expression:esophagus (human) PMID:19758438|REF_RGD_ID:151347672 12122616 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:737195 D RGD:9068941 20220204 RGD protein:increased expression:esophagus (human) PMID:30227324|REF_RGD_ID:151347669 12122616 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:737195 D RGD:9068941 20220204 RGD RNA:increased expression:lung (human) PMID:29895215|REF_RGD_ID:151347665 12122616 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:3910 lung adenocarcinoma ISO RGD:737195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24366584 12122616 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:4451 renal carcinoma ISO RGD:2944 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:9405228|REF_RGD_ID:2293758 12122616 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:5520 head and neck squamous cell carcinoma ameliorates ISO RGD:737195 D RGD:9068941 20220204 RGD human cell line in a mouse model PMID:26754630|REF_RGD_ID:11556098 12122616 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:630 genetic disease ISO RGD:737195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122616 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:8567 Hodgkin's lymphoma ISO RGD:737195 D RGD:9068941 20200609 RGD PMID:12145210|REF_RGD_ID:1549449 12122616 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:9005172 Lung Neoplasms ISO RGD:737195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16289808|PMID:27935865 12122616 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:9005873 Tongue Neoplasms ISO RGD:2944 D RGD:9068941 20200609 RGD protein:increased expression:tongue epithelium PMID:14674993|REF_RGD_ID:2293780 12122616 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:9007102 Myocardial Ischemia ISO RGD:737195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12122616 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:9074 systemic lupus erythematosus ISO RGD:737196 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12122616 JUNB JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:9256 colorectal cancer ISO RGD:737195 D RGD:9068941 20220204 RGD associated with ulcerative colitis;protein:increased expression:colonic mucosa (human) PMID:33299340|REF_RGD_ID:151347858 12122621 MIR151 microRNA mir-151 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1608322 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12122621 MIR151 microRNA mir-151 gene DOID:219 colon cancer disease_progression ISO RGD:1345628 D RGD:9068941 20220825 RGD human cells in mouse model;RNA:decreased expression:colon,exosome (human) PMID:28211508|REF_RGD_ID:153344546 12122621 MIR151 microRNA mir-151 gene DOID:3021 acute kidney failure ISO RGD:1608322 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 12122621 MIR151 microRNA mir-151 gene DOID:6000 congestive heart failure ISO RGD:1345628 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12122621 MIR151 microRNA mir-151 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1608322 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12122621 MIR151 microRNA mir-151 gene DOID:9256 colorectal cancer ISO RGD:1345628 D RGD:9068941 20220908 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12122621 MIR151 microRNA mir-151 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12122624 MIRLET7A-2 microRNA let-7a-2 gene DOID:5419 schizophrenia ISO RGD:1344903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12122624 MIRLET7A-2 microRNA let-7a-2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12122624 MIRLET7A-2 microRNA let-7a-2 gene DOID:9007661 Dwarfism ISO RGD:1344903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12122658 CTXND1 cortexin domain containing 1 gene DOID:11372 megacolon ISO RGD:8655729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12122691 ACAN aggrecan gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:68507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12122691 ACAN aggrecan gene DOID:0112282 spondyloepiphyseal dysplasia Kimberley type ISO RGD:68507 D RGD:7240710 20180130 OMIM 12122691 ACAN aggrecan gene DOID:0112282 spondyloepiphyseal dysplasia Kimberley type ISO RGD:68507 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, Kimberley type PMID:16080123|PMID:25741868|PMID:28492532 12122691 ACAN aggrecan gene DOID:10316 pneumoconiosis ISO RGD:68507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 12122691 ACAN aggrecan gene DOID:10584 retinitis pigmentosa treatment ISO RGD:735902 D RGD:9068941 20200609 RGD PMID:25646031|REF_RGD_ID:11570529 12122691 ACAN aggrecan gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:68507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 12122691 ACAN aggrecan gene DOID:1824 status epilepticus ISO RGD:68358 D RGD:9068941 20200609 RGD PMID:22934955|REF_RGD_ID:11570543 12122691 ACAN aggrecan gene DOID:2256 osteochondrodysplasia ISO RGD:735902 D RGD:9068941 20200609 RGD DNA:deletion:exon PMID:7920633|REF_RGD_ID:11570525 12122691 ACAN aggrecan gene DOID:2377 multiple sclerosis ISO RGD:68507 D RGD:9068941 20200609 RGD protein:altered expression:central nervous system, plaque (human) PMID:11764092|REF_RGD_ID:2315836 12122691 ACAN aggrecan gene DOID:2717 Bloom syndrome ISO RGD:68507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12122691 ACAN aggrecan gene DOID:4480 achondroplasia ISO RGD:735902 D RGD:9068941 20220825 MouseDO OMIM:100800 12122691 ACAN aggrecan gene DOID:6000 congestive heart failure ISO RGD:68358 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium PMID:24595230|REF_RGD_ID:11570548 12122691 ACAN aggrecan gene DOID:630 genetic disease ISO RGD:68507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27870580|PMID:28492532 12122691 ACAN aggrecan gene DOID:7148 rheumatoid arthritis ISO RGD:68507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292528 12122691 ACAN aggrecan gene DOID:7148 rheumatoid arthritis disease_progression ISO RGD:68507 D RGD:9068941 20200609 RGD protein:increased degradation:cartilage PMID:16507130|REF_RGD_ID:11570537 12122691 ACAN aggrecan gene DOID:8398 osteoarthritis treatment ISO RGD:68358 D RGD:9068941 20200609 RGD PMID:21853458|REF_RGD_ID:11570544 12122691 ACAN aggrecan gene DOID:8398 osteoarthritis treatment ISO RGD:735902 D RGD:9068941 20200609 RGD PMID:22833446|REF_RGD_ID:11570535 12122691 ACAN aggrecan gene DOID:84 osteochondritis dissecans ISO RGD:68507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteochondritis dissecans PMID:16080123|PMID:20137779|PMID:24762113|PMID:25741868|PMID:27870580|PMID:28492532 12122691 ACAN aggrecan gene DOID:90 degenerative disc disease ISO RGD:68358 D RGD:9068941 20200609 RGD mRNA:decreased expression:intervertebral disk PMID:24285589|REF_RGD_ID:11570539 12122691 ACAN aggrecan gene DOID:90 degenerative disc disease treatment ISO RGD:68358 D RGD:9068941 20200609 RGD associated with Renal Insufficiency PMID:19063844|REF_RGD_ID:10043178 12122691 ACAN aggrecan gene DOID:9000039 Spinal Cord Injuries ISO RGD:68358 D RGD:9068941 20200609 RGD protein:altered expression:spinal cord (rat) PMID:14769391|REF_RGD_ID:2315837 12122691 ACAN aggrecan gene DOID:9000998 Brain Injuries ISO RGD:68358 D RGD:9068941 20200609 RGD mRNA:increased expression:fascia dentata (rat) PMID:18511192|REF_RGD_ID:2315807 12122691 ACAN aggrecan gene DOID:9001088 Spondyloepimetaphyseal Dysplasia, Aggrecan Type ISO RGD:68507 D RGD:7240710 20180130 OMIM 12122691 ACAN aggrecan gene DOID:9001088 Spondyloepimetaphyseal Dysplasia, Aggrecan Type ISO RGD:68507 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, aggrecan type PMID:19110214|PMID:25741868|PMID:28492532|PMID:30124491 12122691 ACAN aggrecan gene DOID:9001680 SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS ISO RGD:68507 D RGD:7240710 20180130 OMIM 12122691 ACAN aggrecan gene DOID:9001680 SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS ISO RGD:68507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature and advanced bone age | ClinVar Annotator: match by term: Short stature and advanced bone age, with early-onset osteoarthritis | ClinVar Annotator: match by term: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans PMID:14216462|PMID:16080123|PMID:19110214|PMID:20137779|PMID:24762113|PMID:25741789|PMID:25741868|PMID:27710243|PMID:27870580|PMID:28331218|PMID:28492532|PMID:29769040|PMID:31841439|PMID:34922359 12122691 ACAN aggrecan gene DOID:9002457 Experimental Arthritis treatment ISO RGD:68358 D RGD:9068941 20200609 RGD PMID:25821409|REF_RGD_ID:12879456 12122691 ACAN aggrecan gene DOID:9006496 Lordosis ISO RGD:735902 D RGD:9068941 20200609 RGD PMID:9192671|REF_RGD_ID:1300269 12122691 ACAN aggrecan gene DOID:9007096 Stroke treatment ISO RGD:68358 D RGD:9068941 20200609 RGD PMID:24664200|REF_RGD_ID:11570545 12122691 ACAN aggrecan gene DOID:9007661 Dwarfism ISO RGD:68507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12122691 ACAN aggrecan gene DOID:9008331 Tendon Injuries ISO RGD:68358 D RGD:9068941 20200609 RGD mRNA:increased expression:patellar ligament (rat) PMID:19955224|REF_RGD_ID:2315073 12122691 ACAN aggrecan gene DOID:9256 colorectal cancer ISO RGD:68507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12122691 ACAN aggrecan gene DOID:9277 primary cerebellar degeneration ISO RGD:735902 D RGD:9068941 20200609 RGD PMID:9192671|REF_RGD_ID:1300269 12122721 PNISR PNN interacting serine and arginine rich protein gene DOID:630 genetic disease ISO RGD:1316570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122744 TAX1BP1 Tax1 binding protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12122744 TAX1BP1 Tax1 binding protein 1 gene DOID:630 genetic disease ISO RGD:1348047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122771 HDGFL3 HDGF like 3 gene DOID:630 genetic disease ISO RGD:1606795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122780 MORN3 MORN repeat containing 3 gene DOID:630 genetic disease ISO RGD:1603521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122804 NUDT12 nudix hydrolase 12 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1322074 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12122804 NUDT12 nudix hydrolase 12 gene DOID:630 genetic disease ISO RGD:1322074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122804 NUDT12 nudix hydrolase 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12122804 NUDT12 nudix hydrolase 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322074 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12122835 LACRT lacritin gene DOID:630 genetic disease ISO RGD:1344511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122857 PGR progesterone receptor gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:731081 D RGD:9068941 20200609 RGD PMID:12628841|REF_RGD_ID:2289659 12122857 PGR progesterone receptor gene DOID:1059 intellectual disability ISO RGD:731081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12122857 PGR progesterone receptor gene DOID:11612 polycystic ovary syndrome ISO RGD:3317 D RGD:9068941 20200609 RGD protein:decreased expression:ovary: PMID:19698287|REF_RGD_ID:4145934 12122857 PGR progesterone receptor gene DOID:127 leiomyoma no_association ISO RGD:731081 D RGD:9068941 20200609 RGD PMID:15807882|REF_RGD_ID:1601278 12122857 PGR progesterone receptor gene DOID:12700 hyperprolactinemia susceptibility ISO RGD:731081 D RGD:9068941 20200609 RGD PMID:15807882|REF_RGD_ID:1601278 12122857 PGR progesterone receptor gene DOID:12704 ataxia telangiectasia ISO RGD:731081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12122857 PGR progesterone receptor gene DOID:289 endometriosis ISO RGD:3317 D RGD:9068941 20200609 RGD PMID:21166214|REF_RGD_ID:7248704 12122857 PGR progesterone receptor gene DOID:289 endometriosis ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642|PMID:21232532 12122857 PGR progesterone receptor gene DOID:289 endometriosis ISO RGD:731081 D RGD:9068941 20200609 RGD PMID:16126772|REF_RGD_ID:1601277 12122857 PGR progesterone receptor gene DOID:299 adenocarcinoma ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15639718 12122857 PGR progesterone receptor gene DOID:305 carcinoma ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 12122857 PGR progesterone receptor gene DOID:3565 meningioma ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19731987|PMID:19747051|PMID:8008172 12122857 PGR progesterone receptor gene DOID:630 genetic disease ISO RGD:731081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122857 PGR progesterone receptor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 12122857 PGR progesterone receptor gene DOID:9000998 Brain Injuries ISO RGD:3317 D RGD:9068941 20200609 RGD PMID:23211561|REF_RGD_ID:7248711 12122857 PGR progesterone receptor gene DOID:9002801 Recurrence ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19747051 12122857 PGR progesterone receptor gene DOID:9003566 Mesothelioma ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15639718 12122857 PGR progesterone receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 12122857 PGR progesterone receptor gene DOID:9006882 Progesterone Resistance ISO RGD:731081 D RGD:7240710 20180130 OMIM 12122857 PGR progesterone receptor gene DOID:9007715 Endometrial Neoplasms ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23200943 12122857 PGR progesterone receptor gene DOID:9008939 Breast Neoplasms ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19436038|PMID:21501481 12122857 PGR progesterone receptor gene DOID:9970 obesity ISO RGD:731081 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:PROGINS polymorphism, combination of long polyglutamine repeat in NCOA3 and homozygous A1/A1 PGR PROGINS genotype associated with obesity in 301 postmenopausal women with breast cancer PMID:14557830|REF_RGD_ID:1642050 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:0050477 Liddle syndrome ISO RGD:736324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23348737 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:0060041 autism spectrum disorder ISO RGD:736324 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:736324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 ISO RGD:736324 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 PMID:10510337|PMID:10523338|PMID:10586178|PMID:11978598|PMID:1506904|PMID:15734793|PMID:16249274|PMID:19462466|PMID:20194130|PMID:21889619|PMID:21917531|PMID:23149595|PMID:24033266|PMID:25741868|PMID:26668308|PMID:27582106|PMID:28492532|PMID:28710092|PMID:8589714 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:0080526 bronchiectasis 1 ISO RGD:736324 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 PMID:25741868 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:0080527 bronchiectasis 2 ISO RGD:736324 D RGD:7240710 20180130 OMIM 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:0080527 bronchiectasis 2 ISO RGD:736324 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2 | ClinVar Annotator: match by term: Idiopathic bronchiectasis PMID:10403853|PMID:10510337|PMID:10523338|PMID:11978598|PMID:1506904|PMID:15734793|PMID:16249274|PMID:19462466|PMID:20194130|PMID:21889619|PMID:21917531|PMID:23149595|PMID:23392097|PMID:24033266|PMID:25741868|PMID:26668308|PMID:27582106|PMID:28492532|PMID:8589714|PMID:9654209 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:736324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:0090018 autosomal dominant familial periodic fever ISO RGD:736324 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) PMID:25741868 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:0111621 Temtamy syndrome ISO RGD:736324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:10283 prostate cancer ISO RGD:736324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:10591 pre-eclampsia ISO RGD:736324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16555725 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:10763 hypertension ISO RGD:736324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11752024|PMID:23348737 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:11612 polycystic ovary syndrome ISO RGD:736324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:1184 nephrotic syndrome ISO RGD:3639 D RGD:9068941 20200609 RGD PMID:15075188|REF_RGD_ID:1624161 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:1485 cystic fibrosis ISO RGD:736324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15077107|PMID:19462466 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:2935 Chediak-Higashi syndrome ISO RGD:736324 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:25741868 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:2987 familial Mediterranean fever ISO RGD:736324 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Familial Mediterranean fever | ClinVar Annotator: match by term: Familial Periodic Fever PMID:25741868 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:4479 pseudohypoaldosteronism ISO RGD:736324 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism PMID:25741868 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:576 proteinuria ISO RGD:736324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11752024 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:630 genetic disease ISO RGD:736324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:769 neuroblastoma disease_progression ISO RGD:736324 D RGD:9068941 20200609 RGD Low levels of methylation correlate with improved survival PMID:21314941|REF_RGD_ID:5509791 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:850 lung disease ISO RGD:736324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15077107|PMID:19462466 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:736324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:9001276 Failure to Thrive ISO RGD:736324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:28492532 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:9006963 Pseudohypoaldosteronism Type IB1, Autosomal Recessive ISO RGD:736324 D RGD:7240710 20221207 OMIM 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:9007096 Stroke ISO RGD:736324 D RGD:9068941 20200609 RGD PMID:15734793|REF_RGD_ID:5509790 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:736324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:9009241 Liddle Syndrome 3 ISO RGD:736324 D RGD:7240710 20190315 OMIM 12122869 SCNN1A sodium channel epithelial 1 subunit alpha gene DOID:9009241 Liddle Syndrome 3 ISO RGD:736324 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Liddle syndrome 3 PMID:10523338|PMID:1506904|PMID:21889619|PMID:23149595|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28710092 12122897 TUBG1 tubulin, gamma 1 gene DOID:0050453 lissencephaly ISO RGD:732715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:25741868|PMID:28492532|PMID:29671837|PMID:29706637|PMID:31086189 12122897 TUBG1 tubulin, gamma 1 gene DOID:0080000 muscular disease ISO RGD:732715 D RGD:9068941 20200609 RGD PMID:15912881|REF_RGD_ID:1626306 12122897 TUBG1 tubulin, gamma 1 gene DOID:0080600 COVID-19 ISO RGD:732715 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12122897 TUBG1 tubulin, gamma 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:732715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23603762 12122897 TUBG1 tubulin, gamma 1 gene DOID:0090138 complex cortical dysplasia with other brain malformations 4 ISO RGD:732715 D RGD:7240710 20180130 OMIM 12122897 TUBG1 tubulin, gamma 1 gene DOID:0090138 complex cortical dysplasia with other brain malformations 4 ISO RGD:732715 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 4 PMID:23603762|PMID:25741868|PMID:28492532 12122897 TUBG1 tubulin, gamma 1 gene DOID:10907 microcephaly ISO RGD:732715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23603762 12122897 TUBG1 tubulin, gamma 1 gene DOID:3429 inclusion body myositis ISO RGD:732715 D RGD:9068941 20200609 RGD PMID:15912881|REF_RGD_ID:1626306 12122897 TUBG1 tubulin, gamma 1 gene DOID:630 genetic disease ISO RGD:732715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122912 LIPF lipase F, gastric type gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1343616 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9286463|PMID:9467011 12122912 LIPF lipase F, gastric type gene DOID:630 genetic disease ISO RGD:1343616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:732480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:25741868|PMID:28492532 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:0110163 Charcot-Marie-Tooth disease axonal type 2F ISO RGD:732480 D RGD:7240710 20180130 OMIM 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:0110163 Charcot-Marie-Tooth disease axonal type 2F ISO RGD:732480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2F | ClinVar Annotator: match by term: HSPB1-Related Disorder PMID:11528513|PMID:12372593|PMID:15122254|PMID:16087758|PMID:16155736|PMID:16215937|PMID:17576681|PMID:17623484|PMID:17881652|PMID:18325928|PMID:18344398|PMID:18832141|PMID:18952241|PMID:20178975|PMID:20660910|PMID:20870250|PMID:21611841|PMID:21785432|PMID:21892769|PMID:21971574|PMID:21983720|PMID:22031878|PMID:22057845|PMID:22176143|PMID:22206013|PMID:22484489|PMID:22521462|PMID:22734906|PMID:23379525|PMID:23643870|PMID:23728742|PMID:23948568|PMID:23963299|PMID:24607769|PMID:24719117|PMID:25025039|PMID:25088881|PMID:25220807|PMID:25429913|PMID:25547330|PMID:25741868|PMID:25965061|PMID:25999205|PMID:26077850|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26768280|PMID:26986878|PMID:26989944|PMID:27492805|PMID:27816334|PMID:27830184|PMID:27862672|PMID:28000086|PMID:28077174|PMID:28144995|PMID:28379183|PMID:28492532|PMID:28547731|PMID:28595321|PMID:28702508|PMID:28717666|PMID:28797631|PMID:28828227|PMID:29031079|PMID:29048431|PMID:29330367|PMID:29381233|PMID:29547183|PMID:29858556|PMID:30669930|PMID:30758704|PMID:30842409|PMID:31573509|PMID:31919945|PMID:32298515|PMID:32301006|PMID:32323160|PMID:32334137|PMID:32376792|PMID:32397312|PMID:32528171|PMID:33509756|PMID:9536098 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:732480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:0111200 distal hereditary motor neuronopathy type 1 ISO RGD:732480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:0111207 distal hereditary motor neuronopathy type 2B ISO RGD:732480 D RGD:7240710 20180130 OMIM 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:0111207 distal hereditary motor neuronopathy type 2B ISO RGD:732480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2B PMID:11528513|PMID:15122254|PMID:16087758|PMID:16155736|PMID:16215937|PMID:16368711|PMID:17576681|PMID:17623484|PMID:17881652|PMID:18325928|PMID:18832141|PMID:20178975|PMID:20660910|PMID:21149811|PMID:21971574|PMID:22031878|PMID:22057845|PMID:22176143|PMID:22484489|PMID:22734906|PMID:23379525|PMID:23643870|PMID:23728742|PMID:23963299|PMID:24607769|PMID:24719117|PMID:25025039|PMID:25220807|PMID:25741868|PMID:25965061|PMID:25999205|PMID:26077850|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:28144995|PMID:28492532|PMID:28547731|PMID:28595321|PMID:28702508|PMID:29048431|PMID:29330367|PMID:29381233|PMID:29547183|PMID:30669930|PMID:30758704|PMID:31573509|PMID:32301006|PMID:32323160|PMID:32334137|PMID:32376792|PMID:33509756|PMID:9536098 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:11528513|PMID:12372593|PMID:15122254|PMID:16215937|PMID:17576681|PMID:17623484|PMID:17881652|PMID:18325928|PMID:18344398|PMID:18832141|PMID:18952241|PMID:19435728|PMID:20178975|PMID:20660910|PMID:20870250|PMID:21149811|PMID:21611841|PMID:21892769|PMID:21983720|PMID:22031878|PMID:22176143|PMID:22206013|PMID:22521462|PMID:22734906|PMID:23643870|PMID:23728742|PMID:23948568|PMID:23963299|PMID:24607769|PMID:25025039|PMID:25088881|PMID:25220807|PMID:25429913|PMID:25547330|PMID:25614874|PMID:25741868|PMID:25965061|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:27862672|PMID:28000086|PMID:28144995|PMID:28166811|PMID:28379183|PMID:28492532|PMID:28595321|PMID:28702508|PMID:28797631|PMID:29381233|PMID:29547183|PMID:9536098 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732480 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:11528513|PMID:12372593|PMID:15122254|PMID:17576681|PMID:17623484|PMID:17881652|PMID:18325928|PMID:18344398|PMID:18832141|PMID:18952241|PMID:19435728|PMID:20178975|PMID:20660910|PMID:20870250|PMID:21149811|PMID:21611841|PMID:21892769|PMID:22031878|PMID:22176143|PMID:22206013|PMID:22521462|PMID:22734906|PMID:23643870|PMID:23948568|PMID:23963299|PMID:24607769|PMID:25025039|PMID:25088881|PMID:25429913|PMID:25547330|PMID:25614874|PMID:25741868|PMID:25965061|PMID:26141737|PMID:26467025|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:28000086|PMID:28144995|PMID:28379183|PMID:28492532|PMID:28595321|PMID:28702508|PMID:28797631|PMID:29381233|PMID:29547183|PMID:32334137|PMID:32376792|PMID:32528171|PMID:9536098 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732480 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11528513|PMID:12372593|PMID:15122254|PMID:16215937|PMID:17576681|PMID:17623484|PMID:17881652|PMID:18325928|PMID:18344398|PMID:18832141|PMID:18952241|PMID:19435728|PMID:20178975|PMID:20660910|PMID:20870250|PMID:21149811|PMID:21611841|PMID:21892769|PMID:21971574|PMID:21983720|PMID:22031878|PMID:22176143|PMID:22206013|PMID:22484489|PMID:22521462|PMID:22734906|PMID:23379525|PMID:23643870|PMID:23728742|PMID:23948568|PMID:23963299|PMID:24607769|PMID:24719117|PMID:25025039|PMID:25088881|PMID:25429913|PMID:25547330|PMID:25614874|PMID:25741868|PMID:25965061|PMID:25999205|PMID:26077850|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:27862672|PMID:28000086|PMID:28077174|PMID:28144995|PMID:28379183|PMID:28492532|PMID:28595321|PMID:28702508|PMID:28797631|PMID:29381233|PMID:29547183|PMID:30758704|PMID:31573509|PMID:32301006|PMID:32323160|PMID:32334137|PMID:32376792|PMID:32528171|PMID:9536098 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:10652 Alzheimer's disease ISO RGD:61306 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brainstem, astrocyte: PMID:25772164|REF_RGD_ID:10402580 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:1115 sarcoma disease_progression ISO RGD:732480 D RGD:9068941 20200609 RGD PMID:21833720|REF_RGD_ID:10402768 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9527842 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:732480 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus, podocyte: PMID:21931298|REF_RGD_ID:10402764 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:732480 D RGD:9068941 20200609 RGD PMID:21833720|REF_RGD_ID:10402768 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:1824 status epilepticus ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20971094 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:224 transient cerebral ischemia ISO RGD:61306 D RGD:9068941 20200609 RGD protein:increased expression:brain,astrocyte: PMID:10559386|REF_RGD_ID:10402577 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:2773 contact dermatitis ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:3910 lung adenocarcinoma ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:4450 renal cell carcinoma ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:6000 congestive heart failure ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17481944 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:630 genetic disease ISO RGD:732480 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12372593|PMID:15122254|PMID:16087758|PMID:16215937|PMID:17576681|PMID:17623484|PMID:18344398|PMID:18832141|PMID:20178975|PMID:20660910|PMID:21611841|PMID:21892769|PMID:22031878|PMID:22176143|PMID:22521462|PMID:23643870|PMID:23728742|PMID:23948568|PMID:24607769|PMID:25025039|PMID:25429913|PMID:25547330|PMID:25741868|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:28000086|PMID:28144995|PMID:28379183|PMID:28492532|PMID:28595321|PMID:28702508|PMID:28797631|PMID:29048431|PMID:29330367|PMID:29381233|PMID:29547183|PMID:30669930|PMID:32334137|PMID:32376792|PMID:32528171|PMID:33509756|PMID:9536098 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:7148 rheumatoid arthritis ISO RGD:732480 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21417552|REF_RGD_ID:10402843 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:61306 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord: PMID:12098653|REF_RGD_ID:10402749 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:61306 D RGD:9068941 20200903 RGD PMID:30287503|REF_RGD_ID:38549580 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:9000307 Presbycusis ISO RGD:732481 D RGD:9068941 20200609 RGD PMID:24587312|REF_RGD_ID:10402574 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:9000972 Fever ISO RGD:61306 D RGD:9068941 20200609 RGD protein:increased expression:glial cell PMID:12834255|REF_RGD_ID:1304397 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:9000998 Brain Injuries ISO RGD:61306 D RGD:9068941 20200609 RGD PMID:11746764|REF_RGD_ID:6480530 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:61306 D RGD:9068941 20200609 RGD PMID:21310899|REF_RGD_ID:10402767 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:61306 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:glomerulus: PMID:21931298|REF_RGD_ID:10402764 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:732480 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus, podocyte: PMID:21931298|REF_RGD_ID:10402764 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:9002221 Hyperplasia ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864298 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:9003104 Intracranial Hemorrhages ISO RGD:61306 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:15472083|REF_RGD_ID:10402769 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:9004009 Reperfusion Injury ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19193722 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:9005873 Tongue Neoplasms ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19840781 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:732480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:9008691 Liver Injury ISO RGD:61306 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver,hepatocyte,macrophage: PMID:22417648|REF_RGD_ID:10402770 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:9119 acute myeloid leukemia ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12122933 HSPB1 heat shock protein family B (small) member 1 gene DOID:9538 multiple myeloma ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12855565 12122940 CALM2 calmodulin 2 gene DOID:0080600 COVID-19 ISO RGD:736342 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 12122940 CALM2 calmodulin 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:736342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:23388215|PMID:24917665|PMID:25741868|PMID:27100291|PMID:27114410|PMID:27165696|PMID:27516456|PMID:28335032|PMID:28492532|PMID:31283864 12122940 CALM2 calmodulin 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:736342 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:17576681|PMID:23388215|PMID:24917665|PMID:25741868|PMID:26969752|PMID:27516456|PMID:27765793|PMID:28492532|PMID:9536098 12122940 CALM2 calmodulin 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:736342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:11569915|PMID:17576681|PMID:23388215|PMID:24917665|PMID:25741868|PMID:26164367|PMID:26969752|PMID:27100291|PMID:27114410|PMID:27165696|PMID:27374306|PMID:27516456|PMID:27765793|PMID:28335032|PMID:28492532|PMID:30348784|PMID:30354306|PMID:31283864|PMID:32383558|PMID:9536098 12122940 CALM2 calmodulin 2 gene DOID:0110656 long QT syndrome 15 ISO RGD:736342 D RGD:7240710 20180130 OMIM 12122940 CALM2 calmodulin 2 gene DOID:0110656 long QT syndrome 15 ISO RGD:736342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 15 PMID:11569915|PMID:23388215|PMID:24917665|PMID:25741868|PMID:26164367|PMID:26969752|PMID:27100291|PMID:27114410|PMID:27165696|PMID:27516456|PMID:27765793|PMID:28335032|PMID:28492532|PMID:30348784|PMID:31283864|PMID:32383558 12122940 CALM2 calmodulin 2 gene DOID:14671 multiple intestinal atresia ISO RGD:736342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple gastrointestinal atresias PMID:28492532 12122940 CALM2 calmodulin 2 gene DOID:1470 major depressive disorder ISO RGD:736342 D RGD:9068941 20200609 RGD mRNA:decreased expression:frontal association cortex PMID:22885997|REF_RGD_ID:6892958 12122940 CALM2 calmodulin 2 gene DOID:2843 long QT syndrome ISO RGD:736342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:11569915|PMID:17576681|PMID:23388215|PMID:24917665|PMID:26164367|PMID:26969752|PMID:27100291|PMID:27114410|PMID:27165696|PMID:27374306|PMID:27516456|PMID:27765793|PMID:28335032|PMID:28492532|PMID:30354306|PMID:31283864|PMID:9536098 12122940 CALM2 calmodulin 2 gene DOID:3883 Lynch syndrome ISO RGD:736342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12122940 CALM2 calmodulin 2 gene DOID:5062 phencyclidine abuse ISO RGD:736342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 12122940 CALM2 calmodulin 2 gene DOID:630 genetic disease ISO RGD:736342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12122940 CALM2 calmodulin 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:736342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 12122940 CALM2 calmodulin 2 gene DOID:9007 sudden infant death syndrome ISO RGD:736342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME 12122940 CALM2 calmodulin 2 gene DOID:9505 cannabis abuse ISO RGD:736342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 12122950 OSBP2 oxysterol binding protein 2 gene DOID:4947 cholangiocarcinoma ISO RGD:1321446 D RGD:9068941 20210129 RGD mRNA:increased expression:blood PMID:21763455|REF_RGD_ID:41404644 12122950 OSBP2 oxysterol binding protein 2 gene DOID:630 genetic disease ISO RGD:1321446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12122991 GSTO2 glutathione S-transferase omega 2 gene DOID:10652 Alzheimer's disease no_association ISO RGD:1321858 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: -183 A>G (rs2297235)(human) PMID:15917099|REF_RGD_ID:5490514 12122991 GSTO2 glutathione S-transferase omega 2 gene DOID:10652 Alzheimer's disease onset ISO RGD:1321858 D RGD:9068941 20200609 RGD DDNA:polymorphism: : -183 A>G (rs2297235)(human) PMID:14570706|REF_RGD_ID:1358651 12122991 GSTO2 glutathione S-transferase omega 2 gene DOID:11054 urinary bladder cancer ISO RGD:1321858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22306368 12122991 GSTO2 glutathione S-transferase omega 2 gene DOID:14330 Parkinson's disease onset ISO RGD:1321858 D RGD:9068941 20200609 RGD DDNA:polymorphism: : -183 A>G (rs2297235)(human) PMID:14570706|REF_RGD_ID:1358651 12122991 GSTO2 glutathione S-transferase omega 2 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1321858 D RGD:9068941 20200609 RGD DNA:polymorphism: : -183 A>G (rs2297235)(human) PMID:17194543|REF_RGD_ID:5490299 12122991 GSTO2 glutathione S-transferase omega 2 gene DOID:2841 asthma susceptibility ISO RGD:1321858 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p. N142D (human) PMID:20374258|REF_RGD_ID:5490988 12122991 GSTO2 glutathione S-transferase omega 2 gene DOID:630 genetic disease ISO RGD:1321858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123009 ATP5IF1 ATP synthase inhibitory factor subunit 1 gene DOID:305 carcinoma ISO RGD:1552540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 12123009 ATP5IF1 ATP synthase inhibitory factor subunit 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1552540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 12123009 ATP5IF1 ATP synthase inhibitory factor subunit 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1552540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 12123009 ATP5IF1 ATP synthase inhibitory factor subunit 1 gene DOID:9452 fatty liver disease ISO RGD:1552540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12123016 SLC30A2 solute carrier family 30 member 2 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:733874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 12123016 SLC30A2 solute carrier family 30 member 2 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:733874 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12123016 SLC30A2 solute carrier family 30 member 2 gene DOID:10283 prostate cancer ISO RGD:733874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12123016 SLC30A2 solute carrier family 30 member 2 gene DOID:630 genetic disease ISO RGD:733874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123016 SLC30A2 solute carrier family 30 member 2 gene DOID:9003336 Neonatal Zinc Deficiency due to Low Breast Milk Zinc ISO RGD:733874 D RGD:7240710 20180130 OMIM 12123016 SLC30A2 solute carrier family 30 member 2 gene DOID:9003336 Neonatal Zinc Deficiency due to Low Breast Milk Zinc ISO RGD:733874 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Zinc deficiency, transient neonatal PMID:17065149|PMID:22733820|PMID:24456035|PMID:25741868|PMID:28665435 12123028 LRP2 LDL receptor related protein 2 gene DOID:0090144 Donnai-Barrow syndrome ISO RGD:68599 D RGD:7240710 20180130 OMIM 12123028 LRP2 LDL receptor related protein 2 gene DOID:0090144 Donnai-Barrow syndrome ISO RGD:68599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria | ClinVar Annotator: match by term: Donnai-Barrow syndrome PMID:12923867|PMID:16199547|PMID:17576681|PMID:17632512|PMID:18414213|PMID:20301732|PMID:20359920|PMID:23033978|PMID:24319098|PMID:24406863|PMID:24876117|PMID:25158045|PMID:25326635|PMID:25682901|PMID:25741868|PMID:26118977|PMID:26350204|PMID:26529358|PMID:28492532|PMID:29992659|PMID:30167849|PMID:32238909|PMID:33103447|PMID:34979047|PMID:8266995|PMID:9475100|PMID:9536098 12123028 LRP2 LDL receptor related protein 2 gene DOID:10003 sensorineural hearing loss ISO RGD:68599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632512 12123028 LRP2 LDL receptor related protein 2 gene DOID:1059 intellectual disability ISO RGD:68599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25107291|PMID:25741868|PMID:26529358|PMID:28492532|PMID:30167849 12123028 LRP2 LDL receptor related protein 2 gene DOID:1059 intellectual disability ISO RGD:68599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18414213|PMID:25741868|PMID:26350204|PMID:26529358|PMID:28492532|PMID:30167849 12123028 LRP2 LDL receptor related protein 2 gene DOID:1062 Fanconi syndrome ISO RGD:68600 D RGD:9068941 20220825 MouseDO OMIM:134600 | OMIM:613388 | OMIM:615605 12123028 LRP2 LDL receptor related protein 2 gene DOID:10763 hypertension ISO RGD:68407 D RGD:9068941 20200609 RGD protein:altered localization:apical plasma membrane PMID:10919857|REF_RGD_ID:1641827 12123028 LRP2 LDL receptor related protein 2 gene DOID:10976 membranous glomerulonephritis ISO RGD:68407 D RGD:9068941 20200609 RGD mRNA:decreased expression:glomerulus PMID:10919857|REF_RGD_ID:1641827 12123028 LRP2 LDL receptor related protein 2 gene DOID:11193 syndactyly ISO RGD:68599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic syndactyly PMID:25741868|PMID:28492532 12123028 LRP2 LDL receptor related protein 2 gene DOID:11829 degenerative myopia ISO RGD:68600 D RGD:9068941 20220825 MouseDO 12123028 LRP2 LDL receptor related protein 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:68599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12123028 LRP2 LDL receptor related protein 2 gene DOID:2527 nephrosis ISO RGD:68407 D RGD:9068941 20200609 RGD mRNA:decreased expression:glomerulus PMID:10919857|REF_RGD_ID:1641827 12123028 LRP2 LDL receptor related protein 2 gene DOID:3021 acute kidney failure ISO RGD:68599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29286200 12123028 LRP2 LDL receptor related protein 2 gene DOID:5394 prolactinoma ISO RGD:68599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prolactinoma, familial PMID:17632512|PMID:25682901|PMID:25741868|PMID:28492532 12123028 LRP2 LDL receptor related protein 2 gene DOID:557 kidney disease ISO RGD:68599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632512 12123028 LRP2 LDL receptor related protein 2 gene DOID:630 genetic disease ISO RGD:68599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:17632512|PMID:20359920|PMID:24406863|PMID:25158045|PMID:25682901|PMID:25741868|PMID:26350204|PMID:28492532|PMID:29992659|PMID:34979047|PMID:9536098 12123028 LRP2 LDL receptor related protein 2 gene DOID:7188 autoimmune thyroiditis ISO RGD:68599 D RGD:9068941 20200609 RGD PMID:10404822|REF_RGD_ID:1641847 12123028 LRP2 LDL receptor related protein 2 gene DOID:783 end stage renal disease ISO RGD:68407 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:15266031|REF_RGD_ID:1641836 12123028 LRP2 LDL receptor related protein 2 gene DOID:8501 fundus dystrophy ISO RGD:68599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28041643|PMID:28492532 12123028 LRP2 LDL receptor related protein 2 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:68407 D RGD:9068941 20200609 RGD PMID:11841627|REF_RGD_ID:1641842 12123028 LRP2 LDL receptor related protein 2 gene DOID:9001542 Albuminuria ISO RGD:68407 D RGD:9068941 20200609 RGD PMID:12121845|REF_RGD_ID:1641839 12123028 LRP2 LDL receptor related protein 2 gene DOID:9002189 High Myopia ISO RGD:68599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:17632512|PMID:25682901|PMID:25741868|PMID:28492532 12123028 LRP2 LDL receptor related protein 2 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:68599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10052453 12123028 LRP2 LDL receptor related protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22919386 12123028 LRP2 LDL receptor related protein 2 gene DOID:9002525 Hereditary Eye Diseases ISO RGD:68599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632512 12123028 LRP2 LDL receptor related protein 2 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:68599 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: DSD incomplete virilization PMID:20359920|PMID:25741868|PMID:28492532|PMID:34979047 12123028 LRP2 LDL receptor related protein 2 gene DOID:9004538 Hearing Loss ISO RGD:68599 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:28492532|PMID:30311386 12123028 LRP2 LDL receptor related protein 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:68407 D RGD:9068941 20200609 RGD protein:decreased expression:kidney, proximal convoluted tubule, apical plasma membrane PMID:11685557|REF_RGD_ID:1641843 12123028 LRP2 LDL receptor related protein 2 gene DOID:9006359 Vitamin D Deficiency ISO RGD:68599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10052453 12123028 LRP2 LDL receptor related protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:68599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 12123028 LRP2 LDL receptor related protein 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:68599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632512 12123028 LRP2 LDL receptor related protein 2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:68599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632512 12123117 GRK4 G protein-coupled receptor kinase 4 gene DOID:10825 essential hypertension susceptibility ISO RGD:1606583 D RGD:9068941 20200609 RGD DNA:SNP,haplotypes:cds: PMID:15097232|REF_RGD_ID:1598505 12123117 GRK4 G protein-coupled receptor kinase 4 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1606583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12123117 GRK4 G protein-coupled receptor kinase 4 gene DOID:1856 cherubism ISO RGD:1606583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12123117 GRK4 G protein-coupled receptor kinase 4 gene DOID:630 genetic disease ISO RGD:1606583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123117 GRK4 G protein-coupled receptor kinase 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:61858 D RGD:9068941 20200609 RGD protein:decreased expression:cortex of kidney (rat) PMID:23196710|REF_RGD_ID:13792785 12123117 GRK4 G protein-coupled receptor kinase 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1606583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12123137 ACIN1 apoptotic chromatin condensation inducer 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1323663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12123137 ACIN1 apoptotic chromatin condensation inducer 1 gene DOID:630 genetic disease ISO RGD:1323663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123137 ACIN1 apoptotic chromatin condensation inducer 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1323663 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12123137 ACIN1 apoptotic chromatin condensation inducer 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1323663 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12123175 PNPO pyridoxamine 5'-phosphate oxidase gene DOID:0111204 distal hereditary motor neuronopathy type 5A ISO RGD:1352951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A PMID:24266778|PMID:24645144|PMID:24658933|PMID:24781210|PMID:25741868|PMID:25762494|PMID:28492532 12123175 PNPO pyridoxamine 5'-phosphate oxidase gene DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency ISO RGD:1352951 D RGD:7240710 20180130 OMIM 12123175 PNPO pyridoxamine 5'-phosphate oxidase gene DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency ISO RGD:1352951 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pyridoxal phosphate-responsive seizures PMID:15182361|PMID:15772097|PMID:16199547|PMID:17216302|PMID:17576681|PMID:18296573|PMID:18485777|PMID:19759001|PMID:20370816|PMID:21292558|PMID:22858719|PMID:23419474|PMID:23708187|PMID:24266778|PMID:24297574|PMID:24645144|PMID:24658933|PMID:24781210|PMID:25256445|PMID:25741868|PMID:25762494|PMID:25979913|PMID:26467025|PMID:26535729|PMID:27014579|PMID:27419045|PMID:27781031|PMID:28133863|PMID:28349276|PMID:28492532|PMID:28929476|PMID:28985901|PMID:29588952|PMID:29610166|PMID:31440721|PMID:32788630|PMID:33087887|PMID:34177756|PMID:34769443|PMID:9536098 12123175 PNPO pyridoxamine 5'-phosphate oxidase gene DOID:1824 status epilepticus ISO RGD:1352951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19356691 12123175 PNPO pyridoxamine 5'-phosphate oxidase gene DOID:1826 epilepsy ISO RGD:1352951 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:24266778|PMID:24645144|PMID:24658933|PMID:24781210|PMID:25741868|PMID:25762494|PMID:26467025|PMID:28492532 12123175 PNPO pyridoxamine 5'-phosphate oxidase gene DOID:630 genetic disease ISO RGD:1352951 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15182361|PMID:17216302|PMID:20370816|PMID:23419474|PMID:24266778|PMID:24645144|PMID:24658933|PMID:24781210|PMID:25256445|PMID:25741868|PMID:25762494|PMID:25979913|PMID:26467025|PMID:27781031|PMID:28492532|PMID:31440721|PMID:33087887 12123186 C8G complement C8 gamma chain gene DOID:0050777 Joubert syndrome ISO RGD:1319211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12123186 C8G complement C8 gamma chain gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1319211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12123186 C8G complement C8 gamma chain gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1319211 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12123186 C8G complement C8 gamma chain gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1319211 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12123186 C8G complement C8 gamma chain gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12123186 C8G complement C8 gamma chain gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1319211 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12123186 C8G complement C8 gamma chain gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12123186 C8G complement C8 gamma chain gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319211 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12123186 C8G complement C8 gamma chain gene DOID:0081097 Rafiq syndrome ISO RGD:1319211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12123186 C8G complement C8 gamma chain gene DOID:1826 epilepsy ISO RGD:1319211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12123186 C8G complement C8 gamma chain gene DOID:3652 Leigh disease ISO RGD:1319211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12123186 C8G complement C8 gamma chain gene DOID:630 genetic disease ISO RGD:1319211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123186 C8G complement C8 gamma chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12123186 C8G complement C8 gamma chain gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1319211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12123201 FBF1 Fas binding factor 1 gene DOID:630 genetic disease ISO RGD:1321696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123253 SYNJ2 synaptojanin 2 gene DOID:630 genetic disease ISO RGD:69494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123253 SYNJ2 synaptojanin 2 gene DOID:9008939 Breast Neoplasms ISO RGD:69494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 12123285 TATDN2 TatD DNase domain containing 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1349644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 12123285 TATDN2 TatD DNase domain containing 2 gene DOID:630 genetic disease ISO RGD:1349644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123285 TATDN2 TatD DNase domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12123285 TATDN2 TatD DNase domain containing 2 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1349644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12123303 ANO7 anoctamin 7 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1351029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12123303 ANO7 anoctamin 7 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1351029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12123303 ANO7 anoctamin 7 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1351029 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12123303 ANO7 anoctamin 7 gene DOID:1059 intellectual disability ISO RGD:1351029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12123303 ANO7 anoctamin 7 gene DOID:630 genetic disease ISO RGD:1351029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123303 ANO7 anoctamin 7 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1351029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12123303 ANO7 anoctamin 7 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1351029 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12123337 TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 gene DOID:0112071 nuclear type mitochondrial complex I deficiency 31 ISO RGD:1351318 D RGD:7240710 20190315 OMIM 12123337 TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 gene DOID:0112071 nuclear type mitochondrial complex I deficiency 31 ISO RGD:1351318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 PMID:25741868|PMID:28492532|PMID:28604674|PMID:33278652|PMID:33586140|PMID:35091571 12123337 TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1351318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 12123337 TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 gene DOID:3652 Leigh disease ISO RGD:1351318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868 12123337 TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 gene DOID:630 genetic disease ISO RGD:1351318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12123348 FBXL7 F-box and leucine rich repeat protein 7 gene DOID:630 genetic disease ISO RGD:1314074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123348 FBXL7 F-box and leucine rich repeat protein 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12123359 PMM2 phosphomannomutase 2 gene DOID:0050570 congenital disorder of glycosylation type I ISO RGD:1319677 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type I PMID:10386614|PMID:10527672|PMID:10602363|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24033266|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28492532|PMID:28940310|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039 12123359 PMM2 phosphomannomutase 2 gene DOID:0050753 cerebellar ataxia ISO RGD:1319677 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:10386614|PMID:10527672|PMID:10602363|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24033266|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28492532|PMID:28940310|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039 12123359 PMM2 phosphomannomutase 2 gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:1319677 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:25738457|PMID:28492532 12123359 PMM2 phosphomannomutase 2 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1319677 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:10386614|PMID:10527672|PMID:10571956|PMID:10602363|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11156536|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11589167|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16376131|PMID:16540464|PMID:16825284|PMID:17166182|PMID:17451957|PMID:18948042|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24033266|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28492532|PMID:28940310|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039 12123359 PMM2 phosphomannomutase 2 gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:1319677 D RGD:7240710 20180130 OMIM 12123359 PMM2 phosphomannomutase 2 gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:1319677 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PMM2-congenital disorder of glycosylation PMID:10066032|PMID:10386614|PMID:10392743|PMID:10527672|PMID:10571009|PMID:10571956|PMID:10602363|PMID:10700701|PMID:10801058|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11058896|PMID:11134235|PMID:11148191|PMID:11156536|PMID:11350185|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11589167|PMID:11715002|PMID:11875054|PMID:11891694|PMID:11916319|PMID:12244009|PMID:12297897|PMID:12357336|PMID:12529711|PMID:12607543|PMID:12626389|PMID:12705494|PMID:12905014|PMID:13129599|PMID:15272470|PMID:15277997|PMID:15520415|PMID:15645285|PMID:15714316|PMID:15844218|PMID:16085795|PMID:16199547|PMID:16376131|PMID:16435227|PMID:16540464|PMID:16825284|PMID:16941129|PMID:17158594|PMID:17166182|PMID:17186415|PMID:17307006|PMID:17308246|PMID:17451957|PMID:17576681|PMID:17920054|PMID:18093857|PMID:18203160|PMID:18485644|PMID:18571450|PMID:18629883|PMID:18948042|PMID:19101518|PMID:19165618|PMID:19168813|PMID:19235233|PMID:19357119|PMID:19396570|PMID:19862844|PMID:20301289|PMID:20638314|PMID:21228398|PMID:21541725|PMID:21937992|PMID:21949237|PMID:22012410|PMID:22223895|PMID:22649348|PMID:22801829|PMID:22814378|PMID:22975760|PMID:23045520|PMID:23430838|PMID:23430905|PMID:23430927|PMID:23757202|PMID:23806237|PMID:23988505|PMID:24033266|PMID:24037084|PMID:24139637|PMID:24493206|PMID:24498599|PMID:24739649|PMID:25167861|PMID:25192236|PMID:25326635|PMID:25333069|PMID:25355454|PMID:25497157|PMID:25525159|PMID:25640679|PMID:25681648|PMID:25741868|PMID:26014514|PMID:26206375|PMID:26425584|PMID:26488408|PMID:26502900|PMID:26629787|PMID:26633542|PMID:26805780|PMID:26887550|PMID:27053713|PMID:27231023|PMID:27415628|PMID:28122681|PMID:28139241|PMID:28373276|PMID:28425223|PMID:28454995|PMID:28492532|PMID:28566178|PMID:28807751|PMID:28820871|PMID:28915903|PMID:28940310|PMID:28954837|PMID:29361989|PMID:29470411|PMID:29701302|PMID:30061496|PMID:30397276|PMID:30406445|PMID:30530630|PMID:30687093|PMID:30740725|PMID:30991241|PMID:31115488|PMID:31117816|PMID:31391289|PMID:31474318|PMID:31902100|PMID:31980526|PMID:32457805|PMID:32581362|PMID:32635232|PMID:32860008|PMID:32874916|PMID:33176815|PMID:33209585|PMID:33340551|PMID:33413482|PMID:33532864|PMID:33583911|PMID:33643843|PMID:34132027|PMID:34277356|PMID:34420056|PMID:34652821|PMID:34859900|PMID:9140401|PMID:9497260|PMID:9536098|PMID:9710598|PMID:9781039 12123359 PMM2 phosphomannomutase 2 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1319677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 12123359 PMM2 phosphomannomutase 2 gene DOID:1059 intellectual disability ISO RGD:1319677 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:10527672|PMID:10801058|PMID:11156536|PMID:11589167|PMID:11891694|PMID:12705494|PMID:15714316|PMID:15844218|PMID:16199547|PMID:18948042|PMID:19862844|PMID:20301289|PMID:21541725|PMID:23430838|PMID:23806237|PMID:23988505|PMID:25355454|PMID:25497157|PMID:25741868|PMID:26014514|PMID:28139241|PMID:28492532|PMID:9140401 12123359 PMM2 phosphomannomutase 2 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1319677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 12123359 PMM2 phosphomannomutase 2 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1319677 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:10386614|PMID:10527672|PMID:10602363|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24033266|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28492532|PMID:28940310|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039 12123359 PMM2 phosphomannomutase 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1319677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:15844218|PMID:25355454|PMID:25497157|PMID:25741868|PMID:28492532|PMID:32635232|PMID:9140401 12123359 PMM2 phosphomannomutase 2 gene DOID:5812 MHC class II deficiency ISO RGD:1319677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12123359 PMM2 phosphomannomutase 2 gene DOID:630 genetic disease ISO RGD:1319677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10386614|PMID:10527672|PMID:10602363|PMID:10700701|PMID:10801058|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11156536|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11589167|PMID:11715002|PMID:11891694|PMID:11916319|PMID:12244009|PMID:15645285|PMID:15714316|PMID:15844218|PMID:16435227|PMID:16540464|PMID:17166182|PMID:17186415|PMID:17451957|PMID:17920054|PMID:18203160|PMID:19357119|PMID:19862844|PMID:20301289|PMID:21228398|PMID:21541725|PMID:21949237|PMID:22012410|PMID:22975760|PMID:23430838|PMID:23430905|PMID:23988505|PMID:24033266|PMID:24498599|PMID:25326635|PMID:25333069|PMID:25355454|PMID:25497157|PMID:25741868|PMID:26014514|PMID:26206375|PMID:26488408|PMID:27053713|PMID:27415628|PMID:28122681|PMID:28139241|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28566178|PMID:28940310|PMID:28954837|PMID:30740725|PMID:31117816|PMID:31474318|PMID:32581362|PMID:32635232|PMID:32860008|PMID:33413482|PMID:33532864|PMID:9140401|PMID:9497260|PMID:9781039 12123359 PMM2 phosphomannomutase 2 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1319677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 12123359 PMM2 phosphomannomutase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 12123359 PMM2 phosphomannomutase 2 gene DOID:9351 diabetes mellitus ISO RGD:1319677 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10386614|PMID:10527672|PMID:10602363|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24033266|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28492532|PMID:28940310|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039 12123375 FCAMR Fc alpha and mu receptor gene DOID:0050589 inflammatory bowel disease ISO RGD:1605024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 12123375 FCAMR Fc alpha and mu receptor gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1605024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 12123375 FCAMR Fc alpha and mu receptor gene DOID:12849 autistic disorder ISO RGD:1605024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12123375 FCAMR Fc alpha and mu receptor gene DOID:1540 parathyroid carcinoma ISO RGD:1605024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12123375 FCAMR Fc alpha and mu receptor gene DOID:630 genetic disease ISO RGD:1605024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123375 FCAMR Fc alpha and mu receptor gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1605024 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12123375 FCAMR Fc alpha and mu receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12123384 VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog gene DOID:0050763 ARC syndrome ISO RGD:1351893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190753 12123384 VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog gene DOID:0050763 ARC syndrome ISO RGD:1618250 D RGD:9068941 20220825 MouseDO OMIM:208085 | OMIM:613404 12123384 VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1351893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 12123384 VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog gene DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 ISO RGD:1351893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 PMID:25741868|PMID:31319225 12123384 VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog gene DOID:0111354 arthrogryposis, renal dysfunction, and cholestasis 2 ISO RGD:1351893 D RGD:7240710 20190918 OMIM 12123384 VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog gene DOID:0111354 arthrogryposis, renal dysfunction, and cholestasis 2 ISO RGD:1351893 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 PMID:20190753|PMID:25741868|PMID:28492532|PMID:31479177 12123384 VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog gene DOID:630 genetic disease ISO RGD:1351893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12123410 PRKCA protein kinase C alpha gene DOID:0060074 ductal carcinoma in situ ISO RGD:737062 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:15454252|REF_RGD_ID:2292458 12123410 PRKCA protein kinase C alpha gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:737062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29341352 12123410 PRKCA protein kinase C alpha gene DOID:0080820 occupational asthma ISO RGD:737062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27504716 12123410 PRKCA protein kinase C alpha gene DOID:10286 prostate carcinoma ISO RGD:737062 D RGD:9068941 20200609 RGD PMID:9474241|REF_RGD_ID:2292463 12123410 PRKCA protein kinase C alpha gene DOID:10763 hypertension ISO RGD:3395 D RGD:9068941 20200609 RGD PMID:15792354|REF_RGD_ID:1581271 12123410 PRKCA protein kinase C alpha gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:737062 D RGD:9068941 20200609 RGD protein:altered localization:urinary bladder PMID:15922420|REF_RGD_ID:2298669 12123410 PRKCA protein kinase C alpha gene DOID:11054 urinary bladder cancer severity ISO RGD:737062 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:16008942|REF_RGD_ID:2292455 12123410 PRKCA protein kinase C alpha gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:737062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25006961 12123410 PRKCA protein kinase C alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:737062 D RGD:9068941 20200609 RGD PMID:9918525|REF_RGD_ID:1581274 12123410 PRKCA protein kinase C alpha gene DOID:2316 brain ischemia ISO RGD:3395 D RGD:9068941 20200609 RGD associated with Subarachnoid Hemorrhage;protein:increased phosphorylation:cerebral artery PMID:18032736|REF_RGD_ID:2293301 12123410 PRKCA protein kinase C alpha gene DOID:2394 ovarian cancer ISO RGD:737062 D RGD:9068941 20200609 RGD PMID:10589745|REF_RGD_ID:2298671 12123410 PRKCA protein kinase C alpha gene DOID:2871 endometrial carcinoma ISO RGD:737062 D RGD:9068941 20200609 RGD PMID:11371124|REF_RGD_ID:2292462 12123410 PRKCA protein kinase C alpha gene DOID:3070 high grade glioma ISO RGD:737062 D RGD:9068941 20200609 RGD DNA:gene fusion: : PMID:26671581|REF_RGD_ID:11087038 12123410 PRKCA protein kinase C alpha gene DOID:326 ischemia ISO RGD:3395 D RGD:9068941 20200609 RGD PMID:17700073|REF_RGD_ID:2292478 12123410 PRKCA protein kinase C alpha gene DOID:3774 chordoid glioma ISO RGD:737062 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.1387G>C,p.D463H(human) PMID:29476136|REF_RGD_ID:13782058 12123410 PRKCA protein kinase C alpha gene DOID:4001 ovarian carcinoma severity ISO RGD:737062 D RGD:9068941 20200609 RGD PMID:12888898|REF_RGD_ID:2292460 12123410 PRKCA protein kinase C alpha gene DOID:4552 large cell carcinoma ISO RGD:737062 D RGD:9068941 20200609 RGD PMID:9474241|REF_RGD_ID:2292463 12123410 PRKCA protein kinase C alpha gene DOID:6000 congestive heart failure ISO RGD:3395 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:heart left ventricle PMID:17556659|REF_RGD_ID:2292480 12123410 PRKCA protein kinase C alpha gene DOID:630 genetic disease ISO RGD:737062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123410 PRKCA protein kinase C alpha gene DOID:9002234 Pituitary Neoplasms ISO RGD:737062 D RGD:9068941 20200609 RGD DNA:point mutation:somatic:D294G PMID:8077302|REF_RGD_ID:1601471 12123410 PRKCA protein kinase C alpha gene DOID:9002245 Intestinal Neoplasms ISO RGD:737062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11983831 12123410 PRKCA protein kinase C alpha gene DOID:9003936 Cardiomegaly ISO RGD:3395 D RGD:9068941 20200609 RGD PMID:15792354|REF_RGD_ID:1581271 12123410 PRKCA protein kinase C alpha gene DOID:9003936 Cardiomegaly ISO RGD:737062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21565836 12123410 PRKCA protein kinase C alpha gene DOID:9004009 Reperfusion Injury ISO RGD:3395 D RGD:9068941 20200609 RGD PMID:17905752|REF_RGD_ID:2292474 12123410 PRKCA protein kinase C alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3395 D RGD:9068941 20200609 RGD PMID:12619877|REF_RGD_ID:1581273 12123410 PRKCA protein kinase C alpha gene DOID:9005274 Polyuria ISO RGD:737062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25006961 12123410 PRKCA protein kinase C alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12198386 12123410 PRKCA protein kinase C alpha gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3395 D RGD:9068941 20200609 RGD PMID:15532718|REF_RGD_ID:1581272 12123410 PRKCA protein kinase C alpha gene DOID:9008939 Breast Neoplasms ISO RGD:737062 D RGD:9068941 20200609 RGD PMID:17965220|PMID:9474241|REF_RGD_ID:2292446|REF_RGD_ID:2292463 12123410 PRKCA protein kinase C alpha gene DOID:9008939 Breast Neoplasms ISO RGD:737062 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:15454252|REF_RGD_ID:2292458 12123434 SOST sclerostin gene DOID:0060251 sclerosteosis ISO RGD:737334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12123434 SOST sclerostin gene DOID:0060251 sclerosteosis ISO RGD:737334 D RGD:9068941 20200609 RGD DNA:transition: :69C>T (human) PMID:11179006|REF_RGD_ID:68858 12123434 SOST sclerostin gene DOID:0060756 sclerosteosis 1 ISO RGD:737334 D RGD:7240710 20180314 OMIM 12123434 SOST sclerostin gene DOID:0060756 sclerosteosis 1 ISO RGD:737334 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Sclerosteosis 1 PMID:11179006|PMID:11181578|PMID:19072561|PMID:25741868|PMID:25984533|PMID:28492532 12123434 SOST sclerostin gene DOID:0080006 bone development disease ISO RGD:737334 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sclerosing Bone Dysplasias PMID:28492532 12123434 SOST sclerostin gene DOID:0080036 SOST-related sclerosing bone dysplasia ISO RGD:737335 D RGD:9068941 20230506 MouseDO OMIM:239100 12123434 SOST sclerostin gene DOID:0080807 autosomal dominant craniodiaphyseal dysplasia ISO RGD:737334 D RGD:7240710 20180130 OMIM 12123434 SOST sclerostin gene DOID:0080807 autosomal dominant craniodiaphyseal dysplasia ISO RGD:737334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniodiaphyseal dysplasia, autosomal dominant PMID:17853455|PMID:21221996 12123434 SOST sclerostin gene DOID:630 genetic disease ISO RGD:737334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12123440 DYNC2I2 dynein 2 intermediate chain 2 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1342520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:19610081|PMID:24183451|PMID:28492532|PMID:29068549|PMID:29241935|PMID:32576942 12123440 DYNC2I2 dynein 2 intermediate chain 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1342520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24183449|PMID:24183451|PMID:28492532 12123440 DYNC2I2 dynein 2 intermediate chain 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1342520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22722545|PMID:24183449|PMID:24183451|PMID:28379358|PMID:28492532|PMID:31332438|PMID:33206935|PMID:33578420 12123440 DYNC2I2 dynein 2 intermediate chain 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1342520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12123440 DYNC2I2 dynein 2 intermediate chain 2 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1342520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 PMID:29068549 12123440 DYNC2I2 dynein 2 intermediate chain 2 gene DOID:0110095 short-rib thoracic dysplasia 11 with or without polydactyly ISO RGD:1342520 D RGD:7240710 20180130 OMIM 12123440 DYNC2I2 dynein 2 intermediate chain 2 gene DOID:0110095 short-rib thoracic dysplasia 11 with or without polydactyly ISO RGD:1342520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly PMID:17576681|PMID:19610081|PMID:24183449|PMID:24183451|PMID:25741868|PMID:28379358|PMID:28492532|PMID:29068549|PMID:29241935|PMID:32576942|PMID:33578420|PMID:9536098 12123440 DYNC2I2 dynein 2 intermediate chain 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1342520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22722545|PMID:24183449|PMID:24183451|PMID:28379358|PMID:28492532|PMID:31332438|PMID:33206935|PMID:33578420 12123440 DYNC2I2 dynein 2 intermediate chain 2 gene DOID:630 genetic disease ISO RGD:1342520 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12123454 RAB6B RAB6B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1320580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123454 RAB6B RAB6B, member RAS oncogene family gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1320580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12123471 PWWP3A PWWP domain containing 3A, DNA repair factor gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1318053 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 12123471 PWWP3A PWWP domain containing 3A, DNA repair factor gene DOID:5339 cyclic hematopoiesis ISO RGD:1318053 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12123471 PWWP3A PWWP domain containing 3A, DNA repair factor gene DOID:630 genetic disease ISO RGD:1318053 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123502 FOXR2 forkhead box R2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12123502 FOXR2 forkhead box R2 gene DOID:12849 autistic disorder ISO RGD:1352257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12123502 FOXR2 forkhead box R2 gene DOID:630 genetic disease ISO RGD:1352257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123502 FOXR2 forkhead box R2 gene DOID:9004217 Nerve Sheath Neoplasms ISO RGD:1352257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685747 12123506 LSAMP limbic system associated membrane protein gene DOID:630 genetic disease ISO RGD:1347242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123529 LOXL1 lysyl oxidase like 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318705 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12123529 LOXL1 lysyl oxidase like 1 gene DOID:1070 primary open angle glaucoma ISO RGD:1318705 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :rs1048661, rs2165241, rs3825942 (human) PMID:19098994|REF_RGD_ID:7387330 12123529 LOXL1 lysyl oxidase like 1 gene DOID:1070 primary open angle glaucoma no_association ISO RGD:1318705 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1048661, rs2165241, rs3825942 (human) PMID:18223248|REF_RGD_ID:7394723 12123529 LOXL1 lysyl oxidase like 1 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1318705 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R141L (human) PMID:21236409|REF_RGD_ID:7387334 12123529 LOXL1 lysyl oxidase like 1 gene DOID:11054 urinary bladder cancer ISO RGD:1318705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17456585 12123529 LOXL1 lysyl oxidase like 1 gene DOID:13550 angle-closure glaucoma no_association ISO RGD:1318705 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1048661, rs2165241, rs3825942 (human) PMID:18223248|REF_RGD_ID:7394723 12123529 LOXL1 lysyl oxidase like 1 gene DOID:13641 exfoliation syndrome ISO RGD:1318705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exfoliation syndrome, susceptibility to PMID:17690259|PMID:18037624|PMID:19343041 12123529 LOXL1 lysyl oxidase like 1 gene DOID:13641 exfoliation syndrome no_association ISO RGD:1318705 D RGD:9068941 20200609 RGD DNA:CNVs PMID:23288989|REF_RGD_ID:7387333 12123529 LOXL1 lysyl oxidase like 1 gene DOID:13641 exfoliation syndrome susceptibility ISO RGD:1318705 D RGD:7240710 20190502 OMIM 12123529 LOXL1 lysyl oxidase like 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1318705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12123529 LOXL1 lysyl oxidase like 1 gene DOID:2717 Bloom syndrome ISO RGD:1318705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12123529 LOXL1 lysyl oxidase like 1 gene DOID:3320 Tay-Sachs disease ISO RGD:1318705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 12123529 LOXL1 lysyl oxidase like 1 gene DOID:5082 liver cirrhosis ISO RGD:1318705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097701 12123529 LOXL1 lysyl oxidase like 1 gene DOID:5419 schizophrenia ISO RGD:1318705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12123529 LOXL1 lysyl oxidase like 1 gene DOID:630 genetic disease ISO RGD:1318705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123529 LOXL1 lysyl oxidase like 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1318706 D RGD:9068941 20200609 RGD PMID:18296663|REF_RGD_ID:7394725 12123529 LOXL1 lysyl oxidase like 1 gene DOID:9001330 Urinary Incontinence, Stress ISO RGD:1318705 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:exon, intron:rs1048661, rs2165241 (human) PMID:22765198|REF_RGD_ID:7394729 12123529 LOXL1 lysyl oxidase like 1 gene DOID:9003936 Cardiomegaly ISO RGD:1308752 D RGD:9068941 20200609 RGD PMID:17378376|REF_RGD_ID:7394734 12123529 LOXL1 lysyl oxidase like 1 gene DOID:9007023 Prenatal Injuries ISO RGD:1318705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20045017 12123529 LOXL1 lysyl oxidase like 1 gene DOID:9256 colorectal cancer ISO RGD:1318705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12123538 ZNF8 zinc finger protein 8 gene DOID:630 genetic disease ISO RGD:1321682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123561 OR8AP1 olfactory receptor family 8 subfamily AP member 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1350153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12123561 OR8AP1 olfactory receptor family 8 subfamily AP member 1 gene DOID:5419 schizophrenia ISO RGD:1350153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12123561 OR8AP1 olfactory receptor family 8 subfamily AP member 1 gene DOID:630 genetic disease ISO RGD:1350153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123561 OR8AP1 olfactory receptor family 8 subfamily AP member 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12123561 OR8AP1 olfactory receptor family 8 subfamily AP member 1 gene DOID:9007661 Dwarfism ISO RGD:1350153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12123626 SIMC1 SUMO interacting motifs containing 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1604161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12123626 SIMC1 SUMO interacting motifs containing 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1604161 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12123626 SIMC1 SUMO interacting motifs containing 1 gene DOID:630 genetic disease ISO RGD:1604161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123643 C6H16orf89 chromosome 6 C16orf89 homolog gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1602067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 12123643 C6H16orf89 chromosome 6 C16orf89 homolog gene DOID:630 genetic disease ISO RGD:1602067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123657 THEM4 thioesterase superfamily member 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12123657 THEM4 thioesterase superfamily member 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12123657 THEM4 thioesterase superfamily member 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12123657 THEM4 thioesterase superfamily member 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1603281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12123657 THEM4 thioesterase superfamily member 4 gene DOID:5812 MHC class II deficiency ISO RGD:1603281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12123657 THEM4 thioesterase superfamily member 4 gene DOID:630 genetic disease ISO RGD:1603281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123657 THEM4 thioesterase superfamily member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1603281 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23392203 12123657 THEM4 thioesterase superfamily member 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12123681 PRSS53 serine protease 53 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:2860194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12123681 PRSS53 serine protease 53 gene DOID:630 genetic disease ISO RGD:2860194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123727 RAD51 RAD51 recombinase gene DOID:0050700 cardiomyopathy treatment ISO RGD:1563603 D RGD:9068941 20200609 RGD PMID:22384017|REF_RGD_ID:7240549 12123727 RAD51 RAD51 recombinase gene DOID:0111090 Fanconi anemia complementation group R ISO RGD:1316727 D RGD:7240710 20230510 OMIM 12123727 RAD51 RAD51 recombinase gene DOID:0111090 Fanconi anemia complementation group R ISO RGD:1316727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group R PMID:15908697|PMID:25741868|PMID:26253028|PMID:26681308 12123727 RAD51 RAD51 recombinase gene DOID:10763 hypertension treatment ISO RGD:1563603 D RGD:9068941 20210611 RGD PMID:24239235|REF_RGD_ID:8693672 12123727 RAD51 RAD51 recombinase gene DOID:1612 breast cancer ISO RGD:1316727 D RGD:7240710 20230510 OMIM 12123727 RAD51 RAD51 recombinase gene DOID:1612 breast cancer resistance ISO RGD:1316727 D RGD:9068941 20200609 RGD DNA:polymorphism: :135G>C PMID:17301259|REF_RGD_ID:2298722 12123727 RAD51 RAD51 recombinase gene DOID:1612 breast cancer susceptibility ISO RGD:1316727 D RGD:9068941 20230511 RGD DNA:SNPs PMID:16624550|REF_RGD_ID:2292637 12123727 RAD51 RAD51 recombinase gene DOID:1612 breast cancer susceptibility ISO RGD:1316727 D RGD:9068941 20230511 RGD DNA:deletion, loss of heterozygosity PMID:17180310|REF_RGD_ID:2292636 12123727 RAD51 RAD51 recombinase gene DOID:1612 breast cancer susceptibility ISO RGD:1316727 D RGD:9068941 20230511 RGD DNA:polymorphism: :135G>C PMID:17999359|REF_RGD_ID:2292634 12123727 RAD51 RAD51 recombinase gene DOID:1612 breast cancer susceptibility ISO RGD:1316727 D RGD:9068941 20230511 RGD DNA:repeat PMID:18429825|REF_RGD_ID:2292632 12123727 RAD51 RAD51 recombinase gene DOID:1793 pancreatic cancer ISO RGD:1563603 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (rat) PMID:20197614|REF_RGD_ID:9831172 12123727 RAD51 RAD51 recombinase gene DOID:2152 ovary epithelial cancer no_association ISO RGD:1316727 D RGD:9068941 20200609 RGD DNA:polymorphisms: :135G>C, 172G>T PMID:15924337|REF_RGD_ID:2298723 12123727 RAD51 RAD51 recombinase gene DOID:2394 ovarian cancer ISO RGD:1316727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 12123727 RAD51 RAD51 recombinase gene DOID:2394 ovarian cancer resistance ISO RGD:1316727 D RGD:9068941 20200609 RGD DNA:polymorphism: :135G>C PMID:17301259|REF_RGD_ID:2298722 12123727 RAD51 RAD51 recombinase gene DOID:2717 Bloom syndrome ISO RGD:1316727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12123727 RAD51 RAD51 recombinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11248061|PMID:17999359 12123727 RAD51 RAD51 recombinase gene DOID:630 genetic disease ISO RGD:1316727 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15908697|PMID:25741868|PMID:26681308|PMID:28492532 12123727 RAD51 RAD51 recombinase gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1316727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22613844 12123727 RAD51 RAD51 recombinase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1563603 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:17219426|REF_RGD_ID:2292638 12123727 RAD51 RAD51 recombinase gene DOID:9002669 Hypoxia ISO RGD:1563603 D RGD:9068941 20200609 RGD associated with Gliosarcoma;mRNA:decreased expression:tumor (rat) PMID:21266355|REF_RGD_ID:9831171 12123727 RAD51 RAD51 recombinase gene DOID:9003461 Mirror Movements 2 ISO RGD:1316727 D RGD:7240710 20230510 OMIM 12123727 RAD51 RAD51 recombinase gene DOID:9003461 Mirror Movements 2 ISO RGD:1316727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mirror movements 2 PMID:10807537|PMID:21242494|PMID:22305526|PMID:24808016|PMID:25741868|PMID:25813273|PMID:27830107|PMID:28492532|PMID:33116287 12123727 RAD51 RAD51 recombinase gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1316727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22613844 12123727 RAD51 RAD51 recombinase gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1316727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9885240 12123727 RAD51 RAD51 recombinase gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1316727 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34998818 12123727 RAD51 RAD51 recombinase gene DOID:9008939 Breast Neoplasms ISO RGD:1316727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12123727 RAD51 RAD51 recombinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1316727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:10807537|PMID:25741868|PMID:28492532|PMID:33116287 12123727 RAD51 RAD51 recombinase gene DOID:9256 colorectal cancer ISO RGD:1316727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12123746 SLC6A6 solute carrier family 6 member 6 gene DOID:0060417 3p deletion syndrome ISO RGD:69004 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12123746 SLC6A6 solute carrier family 6 member 6 gene DOID:10584 retinitis pigmentosa ISO RGD:62205 D RGD:9068941 20220825 MouseDO OMIM:268000 12123746 SLC6A6 solute carrier family 6 member 6 gene DOID:11372 megacolon ISO RGD:69004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12123746 SLC6A6 solute carrier family 6 member 6 gene DOID:4752 multiple system atrophy ISO RGD:62205 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex: PMID:24304186|REF_RGD_ID:11553929 12123746 SLC6A6 solute carrier family 6 member 6 gene DOID:4752 multiple system atrophy ISO RGD:69004 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex: PMID:24304186|REF_RGD_ID:11553929 12123746 SLC6A6 solute carrier family 6 member 6 gene DOID:630 genetic disease ISO RGD:69004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123746 SLC6A6 solute carrier family 6 member 6 gene DOID:8466 retinal degeneration ISO RGD:69004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:25741868|PMID:31345061|PMID:31903486 12123746 SLC6A6 solute carrier family 6 member 6 gene DOID:9004496 Hypertaurinuric Cardiomyopathy ISO RGD:69004 D RGD:7240710 20210707 OMIM 12123746 SLC6A6 solute carrier family 6 member 6 gene DOID:9004496 Hypertaurinuric Cardiomyopathy ISO RGD:69004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertaurinuric cardiomyopathy PMID:25741868|PMID:31345061|PMID:31903486 12123746 SLC6A6 solute carrier family 6 member 6 gene DOID:9007102 Myocardial Ischemia ISO RGD:69004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12123764 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:0060745 Doyne honeycomb retinal dystrophy ISO RGD:1318351 D RGD:7240710 20180130 OMIM 12123764 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:0060745 Doyne honeycomb retinal dystrophy ISO RGD:1318351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Doyne honeycomb retinal dystrophy | ClinVar Annotator: match by term: Malattia leventinese PMID:10369267|PMID:11384588|PMID:11389162|PMID:12242346|PMID:17666404|PMID:22031286|PMID:25077532|PMID:25741868|PMID:26162006|PMID:28492532|PMID:30541486|PMID:33542268|PMID:33546218 12123764 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:1068 juvenile glaucoma ISO RGD:1318351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma of childhood 12123764 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:11353 bladder diverticulum ISO RGD:1318351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diverticulum of bladder PMID:25741868 12123764 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:1283 enterocele ISO RGD:1318352 D RGD:9068941 20200609 RGD PMID:17872905|REF_RGD_ID:10401789 12123764 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:1432 blindness ISO RGD:1318351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blindness PMID:25741868 12123764 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:1790 malignant mesothelioma ISO RGD:1318351 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27032653 12123764 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:1793 pancreatic cancer ISO RGD:1318351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208748 12123764 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:299 adenocarcinoma ISO RGD:1318351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17671114 12123764 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:305 carcinoma ISO RGD:1318351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12123764 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:3070 high grade glioma ISO RGD:1318351 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:19887559|REF_RGD_ID:10401656 12123764 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:3144 cutis laxa ISO RGD:1318351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:25741868 12123764 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:4448 macular degeneration ISO RGD:1318351 D RGD:9068941 20200609 RGD protein:altered expression: : PMID:12242346|REF_RGD_ID:10401794 12123764 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:4448 macular degeneration ISO RGD:1318352 D RGD:9068941 20200609 RGD PMID:17666404|REF_RGD_ID:10401788 12123764 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:4448 macular degeneration no_association ISO RGD:1318352 D RGD:9068941 20200609 RGD PMID:17872905|REF_RGD_ID:10401789 12123764 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:630 genetic disease ISO RGD:1318351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12123764 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:657 adenoma ISO RGD:1318351 D RGD:9068941 20200609 RGD protein:decreased expression: : PMID:24080855|REF_RGD_ID:10401654 12123764 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1318351 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:23936443|REF_RGD_ID:10401793 12123764 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:8501 fundus dystrophy ISO RGD:1318351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10369267|PMID:11384588|PMID:11389162|PMID:12242346|PMID:17666404|PMID:22031286|PMID:25077532|PMID:25741868|PMID:26162006|PMID:28492532|PMID:30541486|PMID:33542268|PMID:33546218 12123764 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1318351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12123764 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1318351 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22275171|REF_RGD_ID:10401792 12123764 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9002644 Premature Aging ISO RGD:1318352 D RGD:9068941 20200609 RGD PMID:17872905|REF_RGD_ID:10401789 12123764 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1318351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17671114 12123764 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1318351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12123764 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9007529 Marfan Syndrome, Autosomal Recessive ISO RGD:1318351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recessive Marfanoid Syndrome with Severe Herniation PMID:28492532|PMID:32006683 12123764 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 12123764 EFEMP1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1318351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19115204 12123785 REL REL proto-oncogene, NF-kB subunit gene DOID:1612 breast cancer ISO RGD:1322580 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:tumor:increased protein levels and nuclear translocation vs adjacent normal breast tissue PMID:10713699|REF_RGD_ID:2300275 12123785 REL REL proto-oncogene, NF-kB subunit gene DOID:2671 transitional cell carcinoma ISO RGD:1322580 D RGD:9068941 20200609 RGD Urinary bladder TCC; protein, mRNA:altered localization, increased expression:tumor:increased expression (p<0.01) and increased nuclear localization (p<0.01) vs adjacent non-cancerous bladder mucosa PMID:12452071|REF_RGD_ID:2300270 12123785 REL REL proto-oncogene, NF-kB subunit gene DOID:630 genetic disease ISO RGD:1322580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17072339|PMID:28492532 12123785 REL REL proto-oncogene, NF-kB subunit gene DOID:7148 rheumatoid arthritis ISO RGD:1322580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19503088|PMID:20453842|PMID:23143596 12123785 REL REL proto-oncogene, NF-kB subunit gene DOID:8567 Hodgkin's lymphoma ISO RGD:1322580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21037568 12123785 REL REL proto-oncogene, NF-kB subunit gene DOID:8893 psoriasis ISO RGD:1322580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953190 12123785 REL REL proto-oncogene, NF-kB subunit gene DOID:8929 atrophic gastritis ISO RGD:1322581 D RGD:9068941 20201218 RGD associated with Helicobacter Infections PMID:23975431|REF_RGD_ID:40902973 12123785 REL REL proto-oncogene, NF-kB subunit gene DOID:9000365 Immunodeficiency 92 ISO RGD:1322580 D RGD:7240710 20211222 OMIM 12123785 REL REL proto-oncogene, NF-kB subunit gene DOID:9000365 Immunodeficiency 92 ISO RGD:1322580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 92 PMID:31103457|PMID:34623332 12123785 REL REL proto-oncogene, NF-kB subunit gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1322581 D RGD:9068941 20200609 RGD DNA:transgene:mammary gland:mouse c-Rel cDNA driven by the MMTV-LTR promoter PMID:12897145|REF_RGD_ID:2300264 12123785 REL REL proto-oncogene, NF-kB subunit gene DOID:9000495 Tremor ISO RGD:1322580 D RGD:9068941 20210212 CTD CTD Direct Evidence: therapeutic PMID:31481676 12123785 REL REL proto-oncogene, NF-kB subunit gene DOID:9000831 Hypokinesia ISO RGD:1322580 D RGD:9068941 20210212 CTD CTD Direct Evidence: therapeutic PMID:31481676 12123785 REL REL proto-oncogene, NF-kB subunit gene DOID:9004649 Heat Stroke ISO RGD:1322580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 12123785 REL REL proto-oncogene, NF-kB subunit gene DOID:9008023 Memory Disorders ISO RGD:1322580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20477932 12123785 REL REL proto-oncogene, NF-kB subunit gene DOID:9256 colorectal cancer susceptibility ISO RGD:1322581 D RGD:9068941 20201218 RGD associated with Experimental Colitis PMID:25727407|REF_RGD_ID:40902978 12123812 EIF2B3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:732190 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12123812 EIF2B3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:732190 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:11835386|PMID:16807905|PMID:18263758|PMID:18414213|PMID:19158808|PMID:19909266|PMID:20301435|PMID:22312164|PMID:23932106|PMID:24028880|PMID:25079571|PMID:25326635|PMID:25741868|PMID:25761052|PMID:26162493|PMID:26467025|PMID:28492532|PMID:31072091|PMID:31418856|PMID:31692161|PMID:32180488|PMID:33432707 12123812 EIF2B3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:732190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:28492532 12123812 EIF2B3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:732190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12123812 EIF2B3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:732190 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12123812 EIF2B3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:630 genetic disease ISO RGD:732190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23932106|PMID:28492532 12123812 EIF2B3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:9002704 Leukoencephalopathies ISO RGD:732190 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: CACH syndrome | ClinVar Annotator: match by term: CACH/VWM syndrome PMID:11835386|PMID:16807905|PMID:18263758|PMID:18414213|PMID:19158808|PMID:19909266|PMID:20301435|PMID:21484434|PMID:22312164|PMID:23932106|PMID:24028880|PMID:25079571|PMID:25326635|PMID:25741868|PMID:25761052|PMID:26162493|PMID:26467025|PMID:28492532|PMID:31072091 12123812 EIF2B3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:9002704 Leukoencephalopathies ISO RGD:732190 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CACH/VWM syndrome PMID:11835386|PMID:16807905|PMID:18263758|PMID:18414213|PMID:19158808|PMID:19909266|PMID:20301435|PMID:22312164|PMID:23932106|PMID:24028880|PMID:25079571|PMID:25326635|PMID:25741868|PMID:25761052|PMID:26162493|PMID:26467025|PMID:28492532|PMID:31072091|PMID:31418856|PMID:31692161|PMID:32180488|PMID:33432707 12123812 EIF2B3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:9005348 Leukoencephalopathy with Vanishing White Matter 1 ISO RGD:732190 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1 PMID:11835386|PMID:16807905|PMID:18263758|PMID:18414213|PMID:19158808|PMID:19909266|PMID:20301435|PMID:22312164|PMID:23932106|PMID:24028880|PMID:25079571|PMID:25326635|PMID:25741868|PMID:25761052|PMID:26162493|PMID:26467025|PMID:28492532|PMID:31072091|PMID:31418856|PMID:31692161|PMID:32180488|PMID:33432707 12123812 EIF2B3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:9008859 Leukoencephalopathy with Vanishing White Matter 3 ISO RGD:732190 D RGD:7240710 20230505 OMIM 12123812 EIF2B3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:9008859 Leukoencephalopathy with Vanishing White Matter 3 ISO RGD:732190 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 3 PMID:11835386|PMID:15776425|PMID:19158808|PMID:20301435|PMID:21484434|PMID:22312164|PMID:25079571|PMID:25761052|PMID:28492532|PMID:31418856 12123831 ACSL1 acyl-CoA synthetase long chain family member 1 gene DOID:0050700 cardiomyopathy ISO RGD:737089 D RGD:9068941 20220825 MouseDO 12123831 ACSL1 acyl-CoA synthetase long chain family member 1 gene DOID:305 carcinoma ISO RGD:1342971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12123831 ACSL1 acyl-CoA synthetase long chain family member 1 gene DOID:630 genetic disease ISO RGD:1342971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123831 ACSL1 acyl-CoA synthetase long chain family member 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1342971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12123831 ACSL1 acyl-CoA synthetase long chain family member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12123831 ACSL1 acyl-CoA synthetase long chain family member 1 gene DOID:9002457 Experimental Arthritis ISO RGD:1342971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988084 12123831 ACSL1 acyl-CoA synthetase long chain family member 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1342971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12123831 ACSL1 acyl-CoA synthetase long chain family member 1 gene DOID:9005587 Starvation ISO RGD:2015 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:15811777|REF_RGD_ID:1625742 12123831 ACSL1 acyl-CoA synthetase long chain family member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1342971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9452481 12123831 ACSL1 acyl-CoA synthetase long chain family member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12123831 ACSL1 acyl-CoA synthetase long chain family member 1 gene DOID:9007692 Insulin Resistance ISO RGD:1342971 D RGD:9068941 20200609 RGD mRNA:decreased expression:subcutaneous adipose tissue PMID:16788709|REF_RGD_ID:1625735 12123831 ACSL1 acyl-CoA synthetase long chain family member 1 gene DOID:9970 obesity ISO RGD:1342971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12123831 ACSL1 acyl-CoA synthetase long chain family member 1 gene DOID:9970 obesity ISO RGD:1342971 D RGD:9068941 20200609 RGD mRNA:decreased expression:subcutaneous adipose tissue PMID:16788709|REF_RGD_ID:1625735 12123831 ACSL1 acyl-CoA synthetase long chain family member 1 gene DOID:9970 obesity ISO RGD:2015 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:adipose tissue, liver PMID:1543733|REF_RGD_ID:1625737 12123866 DNAJC15 DnaJ heat shock protein family (Hsp40) member C15 gene DOID:1909 melanoma ISO RGD:1316177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 12123866 DNAJC15 DnaJ heat shock protein family (Hsp40) member C15 gene DOID:630 genetic disease ISO RGD:1316177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123879 SELENOT selenoprotein T gene DOID:0050579 glycogen storage disease XV ISO RGD:1602000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12123879 SELENOT selenoprotein T gene DOID:630 genetic disease ISO RGD:1602000 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123889 PI3 peptidase inhibitor 3 gene DOID:2234 focal epilepsy ISO RGD:1344308 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12123889 PI3 peptidase inhibitor 3 gene DOID:2773 contact dermatitis ISO RGD:1344308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12123889 PI3 peptidase inhibitor 3 gene DOID:630 genetic disease ISO RGD:1344308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123889 PI3 peptidase inhibitor 3 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1344308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12123896 ZCRB1 zinc finger CCHC-type and RNA binding motif containing 1 gene DOID:630 genetic disease ISO RGD:1604568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123913 SEPTIN11 septin 11 gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1349067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:25741868|PMID:31673878 12123913 SEPTIN11 septin 11 gene DOID:14749 methylmalonic acidemia ISO RGD:1349067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 12123913 SEPTIN11 septin 11 gene DOID:630 genetic disease ISO RGD:1349067 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123913 SEPTIN11 septin 11 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1349067 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12123938 KNG1 kininogen 1 gene DOID:0060575 3MC syndrome 1 ISO RGD:1603713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 12123938 KNG1 kininogen 1 gene DOID:0060903 thrombosis ISO RGD:1603713 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868 12123938 KNG1 kininogen 1 gene DOID:0080941 acquired angioedema ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9734886 12123938 KNG1 kininogen 1 gene DOID:0111676 high molecular weight kininogen deficiency ISO RGD:1603713 D RGD:7240710 20180130 OMIM 12123938 KNG1 kininogen 1 gene DOID:0111676 high molecular weight kininogen deficiency ISO RGD:1603713 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: High molecular weight kininogen deficiency | ClinVar Annotator: match by term: Kininogen deficiency, total PMID:1202089|PMID:12576314|PMID:17522339|PMID:1968772|PMID:25741868|PMID:32202057|PMID:7901207 12123938 KNG1 kininogen 1 gene DOID:10763 hypertension ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7027322 12123938 KNG1 kininogen 1 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:1603713 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:26098644|REF_RGD_ID:11059888 12123938 KNG1 kininogen 1 gene DOID:1205 allergic disease ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11160071 12123938 KNG1 kininogen 1 gene DOID:14735 hereditary angioedema ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9734886 12123938 KNG1 kininogen 1 gene DOID:3021 acute kidney failure ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3015452|PMID:513486 12123938 KNG1 kininogen 1 gene DOID:4404 occupational dermatitis ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30685357 12123938 KNG1 kininogen 1 gene DOID:630 genetic disease ISO RGD:1603713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123938 KNG1 kininogen 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2535056 12123938 KNG1 kininogen 1 gene DOID:9000197 Edema ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9719496 12123938 KNG1 kininogen 1 gene DOID:9000197 Edema treatment ISO RGD:2980 D RGD:9068941 20200609 RGD PMID:20860667|REF_RGD_ID:10450565 12123938 KNG1 kininogen 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22248470 12123938 KNG1 kininogen 1 gene DOID:9000641 Pain ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10445233|PMID:10543429|PMID:1281941|PMID:16076651|PMID:20018876|PMID:29655911|PMID:3951883 12123938 KNG1 kininogen 1 gene DOID:9001039 Leukocytosis ISO RGD:2980 D RGD:9068941 20200609 RGD PMID:5116037|REF_RGD_ID:11059893 12123938 KNG1 kininogen 1 gene DOID:9001371 Eosinophilia ISO RGD:2980 D RGD:9068941 20200609 RGD PMID:1937926|REF_RGD_ID:11059896 12123938 KNG1 kininogen 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18054572 12123938 KNG1 kininogen 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1603713 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :7965C>T (human) PMID:17065357|REF_RGD_ID:2311541 12123938 KNG1 kininogen 1 gene DOID:9002211 Hyperalgesia ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10401557|PMID:10499367|PMID:10543429|PMID:15626726|PMID:16259764|PMID:16793879|PMID:18234883|PMID:2010815|PMID:2128375|PMID:21521205|PMID:3061568|PMID:7493622|PMID:7582491|PMID:7881729|PMID:9714424|PMID:9720808 12123938 KNG1 kininogen 1 gene DOID:9002211 Hyperalgesia ISO RGD:2980 D RGD:9068941 20200609 RGD PMID:20868656|REF_RGD_ID:11059894 12123938 KNG1 kininogen 1 gene DOID:9002291 Hereditary Angioedema 6 ISO RGD:1603713 D RGD:7240710 20210616 OMIM 12123938 KNG1 kininogen 1 gene DOID:9002291 Hereditary Angioedema 6 ISO RGD:1603713 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angioedema, hereditary, 6 PMID:25741868|PMID:31087670|PMID:33114181 12123938 KNG1 kininogen 1 gene DOID:9002457 Experimental Arthritis ISO RGD:2980 D RGD:9068941 20200609 RGD PMID:1996642|REF_RGD_ID:11059895 12123938 KNG1 kininogen 1 gene DOID:9002457 Experimental Arthritis ISO RGD:2980 D RGD:9068941 20200609 RGD peptidoglycan-polysaccharide-induced arthritis in Lewis rats PMID:9214434|REF_RGD_ID:1600547 12123938 KNG1 kininogen 1 gene DOID:9002554 Tachycardia ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7027322 12123938 KNG1 kininogen 1 gene DOID:9003505 Venous Thromboembolism ISO RGD:1603713 D RGD:9068941 20200609 RGD DNA:SNP: :rs710446 (human) PMID:25472531|REF_RGD_ID:11059890 12123938 KNG1 kininogen 1 gene DOID:9005236 Drug Eruptions ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1371395|PMID:3034372 12123938 KNG1 kininogen 1 gene DOID:9006024 Hypotension ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10805402|PMID:1334354|PMID:14744816|PMID:16321614|PMID:18084312|PMID:21420289|PMID:2404862|PMID:6675575|PMID:9249246 12123938 KNG1 kininogen 1 gene DOID:9006205 Animal Disease Models ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30685357 12123938 KNG1 kininogen 1 gene DOID:9007001 Bradycardia ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1281941 12123938 KNG1 kininogen 1 gene DOID:9007073 Cough ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22693178 12123938 KNG1 kininogen 1 gene DOID:9007096 Stroke susceptibility ISO RGD:1603713 D RGD:9068941 20200609 RGD DNA:SNP: :rs710446(human) PMID:26159646|REF_RGD_ID:10411883 12123938 KNG1 kininogen 1 gene DOID:9007251 Hyperesthesia ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8190269 12123938 KNG1 kininogen 1 gene DOID:9007278 Anaphylaxis ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7623993 12123938 KNG1 kininogen 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20362651|PMID:30685357 12123938 KNG1 kininogen 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2535056|PMID:7856280 12123938 KNG1 kininogen 1 gene DOID:9007925 Sudden Cardiac Death susceptibility ISO RGD:1603713 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:19716087|REF_RGD_ID:10411885 12123938 KNG1 kininogen 1 gene DOID:9008511 Extravasation of Diagnostic and Therapeutic Materials ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9622145 12123938 KNG1 kininogen 1 gene DOID:9009039 Hyperemia ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11837250 12123938 KNG1 kininogen 1 gene DOID:9719 neovascular inflammatory vitreoretinopathy severity ISO RGD:1603713 D RGD:9068941 20200609 RGD protein:increased expression:vitreous,serum: PMID:23808406|REF_RGD_ID:10411880 12123958 GABARAP GABA type A receptor-associated protein gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:736805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12123958 GABARAP GABA type A receptor-associated protein gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:736805 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12123958 GABARAP GABA type A receptor-associated protein gene DOID:1059 intellectual disability ISO RGD:736805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12123958 GABARAP GABA type A receptor-associated protein gene DOID:12177 common variable immunodeficiency ISO RGD:736805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12123958 GABARAP GABA type A receptor-associated protein gene DOID:2729 dyskeratosis congenita ISO RGD:736805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12123958 GABARAP GABA type A receptor-associated protein gene DOID:3012 Li-Fraumeni syndrome ISO RGD:736805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12123958 GABARAP GABA type A receptor-associated protein gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:736805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12123966 MAP1LC3B microtubule associated protein 1 light chain 3 beta gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1350223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12123966 MAP1LC3B microtubule associated protein 1 light chain 3 beta gene DOID:630 genetic disease ISO RGD:1350223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123966 MAP1LC3B microtubule associated protein 1 light chain 3 beta gene DOID:700 mitochondrial metabolism disease ISO RGD:1350223 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 12123966 MAP1LC3B microtubule associated protein 1 light chain 3 beta gene DOID:9000039 Spinal Cord Injuries ISO RGD:1350223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 12123966 MAP1LC3B microtubule associated protein 1 light chain 3 beta gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1350223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12123966 MAP1LC3B microtubule associated protein 1 light chain 3 beta gene DOID:9005587 Starvation ISO RGD:1350223 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26483381 12123966 MAP1LC3B microtubule associated protein 1 light chain 3 beta gene DOID:9007102 Myocardial Ischemia ISO RGD:621315 D RGD:9068941 20200609 RGD PMID:12371906|REF_RGD_ID:629541 12123966 MAP1LC3B microtubule associated protein 1 light chain 3 beta gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12123966 MAP1LC3B microtubule associated protein 1 light chain 3 beta gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:621315 D RGD:9068941 20200709 RGD PMID:31007149|REF_RGD_ID:34888237 12123977 AKAP5 A-kinase anchoring protein 5 gene DOID:0080600 COVID-19 ISO RGD:1345297 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12123977 AKAP5 A-kinase anchoring protein 5 gene DOID:10652 Alzheimer's disease ISO RGD:1345297 D RGD:9068941 20200609 RGD protein:increased expression:cell soma, dendritic arbor (human) PMID:10460255|REF_RGD_ID:2313287 12123977 AKAP5 A-kinase anchoring protein 5 gene DOID:630 genetic disease ISO RGD:1345297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12123977 AKAP5 A-kinase anchoring protein 5 gene DOID:9003936 Cardiomegaly ISO RGD:1345297 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11248077 12123977 AKAP5 A-kinase anchoring protein 5 gene DOID:9003936 Cardiomegaly ISO RGD:1345297 D RGD:9068941 20200609 RGD human gene, mouse model PMID:11248077|REF_RGD_ID:2313290 12123977 AKAP5 A-kinase anchoring protein 5 gene DOID:9008023 Memory Disorders ISO RGD:1345297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711127 12123977 AKAP5 A-kinase anchoring protein 5 gene DOID:9008449 Tetany ISO RGD:620829 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus (rat) PMID:12542670|REF_RGD_ID:2313247 12123977 AKAP5 A-kinase anchoring protein 5 gene DOID:9923 developmental coordination disorder ISO RGD:1345297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711127 12123982 RACK1 receptor for activated C kinase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:733289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12123982 RACK1 receptor for activated C kinase 1 gene DOID:224 transient cerebral ischemia ISO RGD:69229 D RGD:9068941 20200609 RGD PMID:24007266|REF_RGD_ID:9588303 12123982 RACK1 receptor for activated C kinase 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:733289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12123994 TMEM151B transmembrane protein 151B gene DOID:11612 polycystic ovary syndrome ISO RGD:1350981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12123994 TMEM151B transmembrane protein 151B gene DOID:630 genetic disease ISO RGD:1350981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124000 H2BC20 H2B clustered histone 20 gene DOID:1540 parathyroid carcinoma ISO RGD:1343213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12124000 H2BC20 H2B clustered histone 20 gene DOID:630 genetic disease ISO RGD:1343213 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124000 H2BC20 H2B clustered histone 20 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12124005 LOC485601 caspase-14-like gene DOID:1059 intellectual disability ISO RGD:1605643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12124005 LOC485601 caspase-14-like gene DOID:12704 ataxia telangiectasia ISO RGD:1605643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12124005 LOC485601 caspase-14-like gene DOID:1749 squamous cell carcinoma ISO RGD:1605643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22514692 12124005 LOC485601 caspase-14-like gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22514692 12124005 LOC485601 caspase-14-like gene DOID:630 genetic disease ISO RGD:1605643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124005 LOC485601 caspase-14-like gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12124016 SGSM1 small G protein signaling modulator 1 gene DOID:630 genetic disease ISO RGD:1317805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124051 BACH1 BTB domain and CNC homolog 1 gene DOID:630 genetic disease ISO RGD:1315457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124071 CBX1 chromobox 1 gene DOID:10283 prostate cancer ISO RGD:1321782 D RGD:9068941 20200609 RGD protein:increased expression:prostate: PMID:18436254|REF_RGD_ID:9586744 12124071 CBX1 chromobox 1 gene DOID:630 genetic disease ISO RGD:1321782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124071 CBX1 chromobox 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12124081 LOC606856 phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2 gene DOID:630 genetic disease ISO RGD:1314090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:0070019 autosomal recessive dyskeratosis congenita 3 ISO RGD:1605665 D RGD:7240710 20180130 OMIM 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:0070019 autosomal recessive dyskeratosis congenita 3 ISO RGD:1605665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 3 PMID:17683073|PMID:20301779|PMID:21205863|PMID:24033266|PMID:25741868|PMID:26822237|PMID:28125078|PMID:28492532|PMID:32303682|PMID:34573280 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1605665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1605665 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:1605665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:12177 common variable immunodeficiency ISO RGD:1605665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1605665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:1612 breast cancer ISO RGD:1605665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:1612 breast cancer no_association ISO RGD:1605665 D RGD:9068941 20200609 RGD DNA:SNP: : rs2287499(human) PMID:25134915|REF_RGD_ID:21081531 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:1984 rectal benign neoplasm treatment ISO RGD:1605665 D RGD:9068941 20200609 RGD PMID:22805008|REF_RGD_ID:21081677 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1605665 D RGD:9068941 20200609 RGD PMID:26426684|REF_RGD_ID:11522675 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:2394 ovarian cancer susceptibility ISO RGD:1605665 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:23192612|REF_RGD_ID:21081534 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:2729 dyskeratosis congenita ISO RGD:1605665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:17683073|PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:24033266|PMID:25741868|PMID:26822237|PMID:28125078|PMID:28492532 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1605665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni PMID:17576681|PMID:17683073|PMID:18511570|PMID:20522432|PMID:21056402|PMID:23172776|PMID:24033266|PMID:25741868|PMID:25762628|PMID:26681312|PMID:28492532|PMID:9242456|PMID:9536098 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1605665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:17576681|PMID:17683073|PMID:18511570|PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:24033266|PMID:25741868|PMID:25762628|PMID:26681312|PMID:28369373|PMID:28492532|PMID:9242456|PMID:9536098 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1605665 D RGD:9068941 20200609 RGD PMID:24626331|REF_RGD_ID:21081532 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1605665 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:30344734|REF_RGD_ID:21081519 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1605665 D RGD:9068941 20200609 RGD RNA:increased expression:lung PMID:31281482|REF_RGD_ID:21081513 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1605665 D RGD:9068941 20200609 RGD PMID:28347242|REF_RGD_ID:21081522 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1605665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:5520 head and neck squamous cell carcinoma treatment ISO RGD:1605665 D RGD:9068941 20200609 RGD PMID:25070141|PMID:25456005|REF_RGD_ID:21081529|REF_RGD_ID:21081533 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:630 genetic disease ISO RGD:1605665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:684 hepatocellular carcinoma ISO RGD:1605665 D RGD:9068941 20200609 RGD RNA:increased expression:liver: PMID:26551349|REF_RGD_ID:11096781 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:7031 glottis squamous cell carcinoma disease_progression ISO RGD:1605665 D RGD:9068941 20200609 RGD PMID:28849066|REF_RGD_ID:21081521 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605665 D RGD:9068941 20200609 RGD associated with esophagus squamous cell carcinoma; PMID:24626331|REF_RGD_ID:21081532 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605665 D RGD:9068941 20200609 RGD associated with lung non-small cell carcinoma; PMID:31281482|REF_RGD_ID:21081513 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:1605665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605665 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:21205863|PMID:25741868|PMID:28492532|PMID:9536098 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:9007633 Body Weight ISO RGD:1605665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31243981 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:9256 colorectal cancer ISO RGD:1605665 D RGD:9068941 20200609 RGD PMID:30175821|REF_RGD_ID:21081520 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:9256 colorectal cancer onset ISO RGD:1605665 D RGD:9068941 20200609 RGD PMID:26013439|REF_RGD_ID:21081528 12124119 WRAP53 WD repeat containing antisense to TP53 gene DOID:9261 nasopharynx carcinoma ISO RGD:1605665 D RGD:9068941 20200609 RGD associated with Epstein-Barr Virus Infections; protein:increased expression:nasopharynx epithelium PMID:28607398|REF_RGD_ID:21081524 12124133 HMGN1 high mobility group nucleosome binding domain 1 gene DOID:12849 autistic disorder ISO RGD:1317138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12124133 HMGN1 high mobility group nucleosome binding domain 1 gene DOID:630 genetic disease ISO RGD:1317138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124133 HMGN1 high mobility group nucleosome binding domain 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1317138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747640 12124143 ILDR1 immunoglobulin like domain containing receptor 1 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1348957 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:15641023|PMID:21255762|PMID:25741868|PMID:30303587 12124143 ILDR1 immunoglobulin like domain containing receptor 1 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1348957 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12124143 ILDR1 immunoglobulin like domain containing receptor 1 gene DOID:0110500 autosomal recessive nonsyndromic deafness 42 ISO RGD:1348957 D RGD:7240710 20180130 OMIM 12124143 ILDR1 immunoglobulin like domain containing receptor 1 gene DOID:0110500 autosomal recessive nonsyndromic deafness 42 ISO RGD:1348957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 42 PMID:15641023|PMID:21255762|PMID:24033266|PMID:25668204|PMID:25741868|PMID:26467025|PMID:26969326|PMID:27610647|PMID:28492532|PMID:30303587|PMID:30311386|PMID:32747562 12124143 ILDR1 immunoglobulin like domain containing receptor 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1348957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment PMID:21255762|PMID:25741868|PMID:28492532 12124143 ILDR1 immunoglobulin like domain containing receptor 1 gene DOID:630 genetic disease ISO RGD:1348957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 12124143 ILDR1 immunoglobulin like domain containing receptor 1 gene DOID:9004538 Hearing Loss ISO RGD:1348957 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:21255762|PMID:24033266|PMID:25741868|PMID:27610647|PMID:28492532|PMID:30311386 12124143 ILDR1 immunoglobulin like domain containing receptor 1 gene DOID:9008681 Deafness ISO RGD:1348957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 12124143 ILDR1 immunoglobulin like domain containing receptor 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1348957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12124143 ILDR1 immunoglobulin like domain containing receptor 1 gene DOID:9270 alkaptonuria ISO RGD:1348957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12124156 DLX4 distal-less homeobox 4 gene DOID:0080408 orofacial cleft 15 ISO RGD:1318695 D RGD:7240710 20190315 OMIM 12124156 DLX4 distal-less homeobox 4 gene DOID:0080408 orofacial cleft 15 ISO RGD:1318695 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Orofacial cleft 15 PMID:25741868|PMID:25954033|PMID:28492532 12124156 DLX4 distal-less homeobox 4 gene DOID:630 genetic disease ISO RGD:1318695 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12124156 DLX4 distal-less homeobox 4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1318695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 12124162 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:735346 D RGD:9068941 20220825 RGD protein:increased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 12124162 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:735346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12124162 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:13139 crescentic glomerulonephritis ISO RGD:2945 D RGD:9068941 20210108 RGD PMID:18443593|REF_RGD_ID:2293336 12124162 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:1824 status epilepticus ISO RGD:735346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7984056 12124162 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:2921 glomerulonephritis ISO RGD:735346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18443593 12124162 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:4451 renal carcinoma ISO RGD:2945 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:9405228|REF_RGD_ID:2293758 12124162 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:5082 liver cirrhosis ISO RGD:735346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17133482 12124162 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:630 genetic disease ISO RGD:735346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124162 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:684 hepatocellular carcinoma ISO RGD:735346 D RGD:9068941 20220728 RGD associated with HBV;protein:increased expression:liver (human) PMID:15927205|REF_RGD_ID:153297768 12124162 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:9005172 Lung Neoplasms ISO RGD:735346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12124162 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735346 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17898221 12124162 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30515189 12124162 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:735346 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12124168 NUP62CL nucleoporin 62 C-terminal like gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1606555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 12124168 NUP62CL nucleoporin 62 C-terminal like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12124168 NUP62CL nucleoporin 62 C-terminal like gene DOID:12849 autistic disorder ISO RGD:1606555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12124168 NUP62CL nucleoporin 62 C-terminal like gene DOID:630 genetic disease ISO RGD:1606555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124201 PTPN3 protein tyrosine phosphatase non-receptor type 3 gene DOID:10283 prostate cancer ISO RGD:1322781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12124201 PTPN3 protein tyrosine phosphatase non-receptor type 3 gene DOID:630 genetic disease ISO RGD:1322781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124201 PTPN3 protein tyrosine phosphatase non-receptor type 3 gene DOID:9775 diastolic heart failure ISO RGD:1322781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12124240 LTO1 LTO1 maturation factor of ABCE1 gene DOID:1059 intellectual disability ISO RGD:1312190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability syndrome 12124240 LTO1 LTO1 maturation factor of ABCE1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1312190 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12124240 LTO1 LTO1 maturation factor of ABCE1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1312190 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12124267 PENK proenkephalin gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:68998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12124267 PENK proenkephalin gene DOID:0060564 spinal disease ISO RGD:68946 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus: PMID:11501038|REF_RGD_ID:10003114 12124267 PENK proenkephalin gene DOID:0070355 overactive bladder syndrome treatment ISO RGD:68998 D RGD:9068941 20200609 RGD PMID:23316929|REF_RGD_ID:10003040 12124267 PENK proenkephalin gene DOID:14330 Parkinson's disease ISO RGD:68946 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum: PMID:11501038|REF_RGD_ID:10003114 12124267 PENK proenkephalin gene DOID:1574 alcohol use disorder ISO RGD:68946 D RGD:9068941 20200609 RGD mRNA:increased expression:frontal lobe: PMID:22703995|REF_RGD_ID:10003152 12124267 PENK proenkephalin gene DOID:2559 opiate dependence ISO RGD:68998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10321497 12124267 PENK proenkephalin gene DOID:543 dystonia ISO RGD:68946 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum: PMID:22595488|REF_RGD_ID:10003100 12124267 PENK proenkephalin gene DOID:630 genetic disease ISO RGD:68998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124267 PENK proenkephalin gene DOID:863 nervous system disease ISO RGD:68998 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12030189 12124267 PENK proenkephalin gene DOID:8986 narcolepsy ISO RGD:68998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17521418 12124267 PENK proenkephalin gene DOID:9000641 Pain ISO RGD:68998 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15833551 12124267 PENK proenkephalin gene DOID:9002211 Hyperalgesia treatment ISO RGD:68998 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:23235561|REF_RGD_ID:10003116 12124267 PENK proenkephalin gene DOID:9002304 Prostatic Neoplasms ISO RGD:68998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12124267 PENK proenkephalin gene DOID:9002331 Knee Osteoarthritis treatment ISO RGD:68946 D RGD:9068941 20200609 RGD PMID:21928671|REF_RGD_ID:10003115 12124267 PENK proenkephalin gene DOID:9002916 Hyperphagia ISO RGD:68946 D RGD:9068941 20200609 RGD PMID:20603139|REF_RGD_ID:10003144 12124267 PENK proenkephalin gene DOID:9006604 Anhedonia ISO RGD:68946 D RGD:9068941 20200609 RGD PMID:24090157|REF_RGD_ID:10003087 12124267 PENK proenkephalin gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:68946 D RGD:9068941 20200609 RGD PMID:21247719|REF_RGD_ID:10003103 12124267 PENK proenkephalin gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:68946 D RGD:9068941 20200609 RGD mRNA:increased expression:brain:striatum: PMID:20456008|REF_RGD_ID:10003039 12124267 PENK proenkephalin gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:68998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9767399 12124267 PENK proenkephalin gene DOID:9008820 Visceral Pain treatment ISO RGD:68998 D RGD:9068941 20200609 RGD PMID:23316929|REF_RGD_ID:10003040 12124267 PENK proenkephalin gene DOID:9976 heroin dependence ISO RGD:68946 D RGD:9068941 20200609 RGD PMID:22683090|REF_RGD_ID:10003025 12124278 LOC100856515 alcohol dehydrogenase 1-like gene DOID:0060041 autism spectrum disorder ISO RGD:1314863 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12124278 LOC100856515 alcohol dehydrogenase 1-like gene DOID:630 genetic disease ISO RGD:1314863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124296 YIPF7 Yip1 domain family member 7 gene DOID:630 genetic disease ISO RGD:1604708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124339 LOC102155967 high affinity immunoglobulin epsilon receptor subunit beta-like gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1316189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12124339 LOC102155967 high affinity immunoglobulin epsilon receptor subunit beta-like gene DOID:1059 intellectual disability ISO RGD:1316189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12124339 LOC102155967 high affinity immunoglobulin epsilon receptor subunit beta-like gene DOID:630 genetic disease ISO RGD:1316189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124389 DRC3 dynein regulatory complex subunit 3 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1606494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 12124389 DRC3 dynein regulatory complex subunit 3 gene DOID:0050777 Joubert syndrome ISO RGD:1606494 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12124389 DRC3 dynein regulatory complex subunit 3 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1606494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12124389 DRC3 dynein regulatory complex subunit 3 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1606494 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12124389 DRC3 dynein regulatory complex subunit 3 gene DOID:12849 autistic disorder ISO RGD:1606494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12124389 DRC3 dynein regulatory complex subunit 3 gene DOID:630 genetic disease ISO RGD:1606494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124407 CDK8 cyclin dependent kinase 8 gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:1348539 D RGD:9068941 20220929 RGD DNA:SNPs, haplotype:intron: (rs17083838, rs7992670) (human) PMID:34815954|REF_RGD_ID:155260314 12124407 CDK8 cyclin dependent kinase 8 gene DOID:14289 Ebstein anomaly ISO RGD:1348539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ebstein anomaly PMID:25741868 12124407 CDK8 cyclin dependent kinase 8 gene DOID:630 genetic disease ISO RGD:1348539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124407 CDK8 cyclin dependent kinase 8 gene DOID:9001861 INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES ISO RGD:1348539 D RGD:7240710 20200226 OMIM 12124407 CDK8 cyclin dependent kinase 8 gene DOID:9001861 INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES ISO RGD:1348539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia and behavioral abnormalities PMID:25741868|PMID:30905399 12124427 GPR151 G protein-coupled receptor 151 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350857 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12124427 GPR151 G protein-coupled receptor 151 gene DOID:4990 essential tremor ISO RGD:1350857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:28492532|PMID:33279834 12124427 GPR151 G protein-coupled receptor 151 gene DOID:630 genetic disease ISO RGD:1350857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124427 GPR151 G protein-coupled receptor 151 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12124427 GPR151 G protein-coupled receptor 151 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350857 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12124439 PDXP pyridoxal phosphatase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1351799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12124439 PDXP pyridoxal phosphatase gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1351799 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12124439 PDXP pyridoxal phosphatase gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1351799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12124439 PDXP pyridoxal phosphatase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1351799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12124439 PDXP pyridoxal phosphatase gene DOID:630 genetic disease ISO RGD:1351799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:0060074 ductal carcinoma in situ treatment ISO RGD:2218 D RGD:9068941 20210611 RGD PMID:25861310|REF_RGD_ID:127284854 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:0080199 colorectal carcinoma ISO RGD:69132 D RGD:9068941 20210521 RGD PMID:11497291|REF_RGD_ID:126925969 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:0080202 adenoid cystic carcinoma ISO RGD:69132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:0080213 punctate palmoplantar keratoderma type II ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Punctate palmoplantar keratoderma type 2 PMID:10090881|PMID:10447273|PMID:10464624|PMID:10739756|PMID:10788334|PMID:10885601|PMID:11466700|PMID:11597388|PMID:11896095|PMID:12125210|PMID:12402332|PMID:12752644|PMID:12771565|PMID:14576434|PMID:14986830|PMID:15024741|PMID:15133502|PMID:15951956|PMID:15994883|PMID:16030426|PMID:16541315|PMID:17307836|PMID:17591843|PMID:18694767|PMID:18762988|PMID:18940477|PMID:19208665|PMID:19359128|PMID:20104584|PMID:20301425|PMID:20345474|PMID:20507347|PMID:20569256|PMID:20730485|PMID:21119707|PMID:21324516|PMID:21503673|PMID:21834074|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22185575|PMID:22430266|PMID:22535016|PMID:22666503|PMID:23199084|PMID:23232912|PMID:23469205|PMID:23867111|PMID:23954390|PMID:24033266|PMID:24319668|PMID:24504028|PMID:24737347|PMID:24884479|PMID:25741868|PMID:25980754|PMID:26295337|PMID:26440929|PMID:26467025|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26718727|PMID:27062684|PMID:27425403|PMID:27433846|PMID:27741520|PMID:27914478|PMID:27989354|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28285342|PMID:28324225|PMID:28423363|PMID:28492532|PMID:28503720|PMID:29161300|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29433453|PMID:29478780|PMID:29492181|PMID:29625052|PMID:29790872|PMID:29907814|PMID:29961768|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30322717|PMID:30333958|PMID:30489631|PMID:30606148|PMID:30613976|PMID:30676620|PMID:31065452|PMID:31090900|PMID:31159747|PMID:31360904|PMID:31447099|PMID:31454914|PMID:31528241|PMID:31851867|PMID:32039725|PMID:32058061|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32719484|PMID:32854451|PMID:32885271|PMID:33449224|PMID:33471991|PMID:33484353|PMID:7894492|PMID:8531967|PMID:8644703|PMID:8833256|PMID:8841191|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9634504 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:11157798|PMID:11802209|PMID:12496476|PMID:15235020|PMID:17308087|PMID:17574969|PMID:17924331|PMID:19200354|PMID:19563646|PMID:20516115|PMID:21324516|PMID:21356067|PMID:21473589|PMID:21702907|PMID:21965345|PMID:21990134|PMID:22889855|PMID:23867111|PMID:24055113|PMID:24569164|PMID:24845084|PMID:25472942|PMID:25741868|PMID:26467025|PMID:26689913|PMID:26884819|PMID:27272900|PMID:28265380|PMID:28324225|PMID:28477318|PMID:28492532|PMID:28724667|PMID:28831036|PMID:29161300|PMID:29297111|PMID:29712865|PMID:30103829|PMID:30287823|PMID:30825404|PMID:31454914|PMID:31472684|PMID:31825140|PMID:32338768|PMID:33098347|PMID:33468216|PMID:33471991 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:0111685 hereditary mixed polyposis syndrome 1 ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:10283 prostate cancer ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:12491487|PMID:15235020|PMID:15447980|PMID:16267036|PMID:17924331|PMID:21990134|PMID:24055113|PMID:24728327|PMID:24729269|PMID:25637381|PMID:25741868|PMID:28492532 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:10283 prostate cancer no_association ISO RGD:69132 D RGD:9068941 20200609 RGD PMID:10398279|REF_RGD_ID:734657 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:10283 prostate cancer severity ISO RGD:69132 D RGD:9068941 20200609 RGD DNA:deletions: :185_186del,1294_1333del,3875_3878del PMID:18182994|REF_RGD_ID:2289042 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:10534 stomach cancer ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10227398|PMID:10389907|PMID:10486320|PMID:10634513|PMID:10644434|PMID:10804288|PMID:10923033|PMID:11149425|PMID:11157798|PMID:11410501|PMID:11462239|PMID:11504767|PMID:11506493|PMID:11595708|PMID:11597388|PMID:11739404|PMID:11802208|PMID:11802209|PMID:11920621|PMID:12360400|PMID:12400015|PMID:12402341|PMID:12491487|PMID:12601471|PMID:12624724|PMID:12655560|PMID:12732733|PMID:12815604|PMID:12827452|PMID:12955716|PMID:14531499|PMID:14534301|PMID:15026808|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15235020|PMID:15290653|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15865297|PMID:16111488|PMID:16140926|PMID:16199547|PMID:16267036|PMID:16287141|PMID:16489001|PMID:16528604|PMID:16528612|PMID:16644204|PMID:16683254|PMID:16998791|PMID:17221156|PMID:17305420|PMID:17308087|PMID:17591843|PMID:17851763|PMID:17922413|PMID:18036263|PMID:18446624|PMID:18465347|PMID:18528753|PMID:18712473|PMID:19016756|PMID:19200354|PMID:19287957|PMID:19370767|PMID:19563646|PMID:19949876|PMID:20103620|PMID:20104584|PMID:20378548|PMID:20455026|PMID:20516115|PMID:20727672|PMID:20960228|PMID:21042765|PMID:21213370|PMID:21324516|PMID:21473589|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21922593|PMID:21946536|PMID:21989927|PMID:21990134|PMID:22006311|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22277901|PMID:22505045|PMID:22711857|PMID:22752604|PMID:22776961|PMID:22798144|PMID:22843421|PMID:22889855|PMID:23161852|PMID:23175448|PMID:23364291|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23683081|PMID:23704984|PMID:23842040|PMID:23867111|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24218521|PMID:24249303|PMID:24312913|PMID:24504028|PMID:24516540|PMID:24569164|PMID:24667779|PMID:24719479|PMID:24728189|PMID:24884479|PMID:25070656|PMID:25085752|PMID:25400221|PMID:25452441|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25971625|PMID:26028024|PMID:26083025|PMID:26153499|PMID:26183948|PMID:26187060|PMID:26246475|PMID:26295337|PMID:26306726|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26848529|PMID:27008870|PMID:27062684|PMID:27257965|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27553291|PMID:27741520|PMID:27767231|PMID:27831900|PMID:28111427|PMID:28152038|PMID:28176296|PMID:28205045|PMID:28283652|PMID:28294317|PMID:28324225|PMID:28398198|PMID:28490613|PMID:28492532|PMID:28525389|PMID:28724667|PMID:28781887|PMID:28802053|PMID:28831036|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29280214|PMID:29310832|PMID:29339979|PMID:29348823|PMID:29360550|PMID:29409476|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29625052|PMID:29673794|PMID:29752822|PMID:29907814|PMID:29922827|PMID:30078507|PMID:30103829|PMID:30128899|PMID:30159786|PMID:30199306|PMID:30209399|PMID:30257991|PMID:30287823|PMID:30309222|PMID:30333958|PMID:30374176|PMID:30458859|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30765603|PMID:30787465|PMID:30875412|PMID:30962250|PMID:30972954|PMID:31112363|PMID:31131967|PMID:31159747|PMID:31209999|PMID:31263571|PMID:31343793|PMID:31347298|PMID:31372034|PMID:31447099|PMID:31528241|PMID:31780705|PMID:31825140|PMID:32072338|PMID:32123317|PMID:32295079|PMID:32341426|PMID:32486089|PMID:32546644|PMID:32710294|PMID:32719484|PMID:32832836|PMID:32906206|PMID:33037428|PMID:33067557|PMID:33087888|PMID:33087929|PMID:33151324|PMID:33309985|PMID:33428613|PMID:33442023|PMID:33471991|PMID:33726785|PMID:35377489|PMID:36988593|PMID:7627958|PMID:7894493|PMID:8554067|PMID:8723683|PMID:8808710|PMID:8875986|PMID:9042907|PMID:9150149|PMID:9150151|PMID:9150154|PMID:9197534|PMID:9760198 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:10534 stomach cancer susceptibility ISO RGD:69132 D RGD:9068941 20210521 RGD DNA:SNP: :rs799917 (human) PMID:25266802|REF_RGD_ID:126925956 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:10534 stomach cancer treatment ISO RGD:69132 D RGD:9068941 20210521 RGD PMID:23633032|REF_RGD_ID:126925962 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:10763 hypertension treatment ISO RGD:69132 D RGD:9068941 20210611 RGD PMID:24239235|REF_RGD_ID:8693672 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:11054 urinary bladder cancer ISO RGD:69132 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:18094410|REF_RGD_ID:2293014 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1324 lung cancer ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:10486320|PMID:11739404|PMID:11802209|PMID:11920621|PMID:12360400|PMID:12400015|PMID:12601471|PMID:16528604|PMID:16644204|PMID:16683254|PMID:16998791|PMID:17591843|PMID:18446624|PMID:18465347|PMID:19949876|PMID:20104584|PMID:20727672|PMID:21922593|PMID:23704984|PMID:24249303|PMID:24504028|PMID:25085752|PMID:25682074|PMID:25741868|PMID:26028024|PMID:26295337|PMID:26467025|PMID:26541979|PMID:27257965|PMID:27553291|PMID:28324225|PMID:28492532|PMID:28724667|PMID:29021639|PMID:29280214|PMID:29446198|PMID:30078507|PMID:30209399|PMID:36988593|PMID:8554067|PMID:9760198 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:14566 disease of cellular proliferation ISO RGD:69132 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15520196 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1520 colon carcinoma ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:25741868|PMID:26295337|PMID:26467025|PMID:28492532|PMID:31911673|PMID:33471991 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10480351|PMID:10486320|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10612827|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10918303|PMID:10923033|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11304778|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11437933|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12037674|PMID:12070551|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12393792|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12774040|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14647443|PMID:14684619|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18375895|PMID:18414213|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973|PMID:18992264 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22615956|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24312913|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26564481|PMID:26580448 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26622941|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26843898|PMID:26845104|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28265380|PMID:28283652|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30630526|PMID:30675319|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30765603|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31341520|PMID:31343793|PMID:31360874|PMID:31409081|PMID:31422574|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31954625|PMID:32068069|PMID:32092317|PMID:32123317|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32812259|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33875706|PMID:34063308|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9649133|PMID:9667259 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10480351|PMID:10486320|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10918303|PMID:10923033|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12070551|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12400015|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12774040|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14647443|PMID:14684619|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18375895|PMID:18414213|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22615956|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24312913|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26564481|PMID:26580448|PMID:26622941|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28265380|PMID:28283652|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30675319|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30765603|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31341520|PMID:31343793|PMID:31360874|PMID:31409081|PMID:31422574|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31954625|PMID:32068069|PMID:32092317|PMID:32123317|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32812259|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33875706|PMID:34063308|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28265380|PMID:28283652|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30181556|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30675319|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30765603|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31409081|PMID:31422574|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31589614|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31954625|PMID:31957001|PMID:32068069|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32426482|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32812259|PMID:32854451|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33720054|PMID:33875706|PMID:34063308|PMID:34749799|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28265380|PMID:28283652|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30181556|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30675319|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30765603|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31409081|PMID:31422574|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31954625|PMID:31957001|PMID:32068069|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32426482|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32812259|PMID:32854451|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33720054|PMID:33875706|PMID:34063308|PMID:34749799|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10480351|PMID:10486320|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12070551|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12400015|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12774040|PMID:12774043|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14647443|PMID:14684619|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18375895|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20406939|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22615956|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24312913|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26564481|PMID:26580448|PMID:26622941|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28265380|PMID:28283652|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30181556|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30675319|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31368036|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31954625|PMID:31957001|PMID:32068069|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32658311|PMID:32812259|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33720054|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34296289|PMID:34749799|PMID:34981296|PMID:35681111|PMID:7493024|PMID:7611277|PMID:7663517 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10480351|PMID:10486320|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12070551|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12400015|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14576434|PMID:14647443|PMID:14684619|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18375895|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19359128|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20406939|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21834074|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22615956|PMID:22666503|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23954390|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24312913|PMID:24319668|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26580448|PMID:26622941|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27844240|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30489631|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34981296|PMID:35681111|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26580448|PMID:26622941|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27844240|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29875428|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30489631|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31815095 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10480351|PMID:10486320|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10612827|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11437933|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12070551|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12400015|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14576434|PMID:14647443|PMID:14684619|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18375895|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19359128|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20406939|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21834074|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22615956|PMID:22666503|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23954390|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24312913|PMID:24319668|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26014432 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34981296|PMID:35681111|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32803532|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34981296|PMID:35681111|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31815095|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32803532|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34981296|PMID:35681111|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26580448|PMID:26622941|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27844240|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29875428|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30489631|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31815095|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32803532|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34981296|PMID:35681111|PMID:36988593|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer susceptibility ISO RGD:69132 D RGD:9068941 20200609 RGD DNA:mutation PMID:7907678|REF_RGD_ID:1599497 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1612 breast cancer susceptibility ISO RGD:69132 D RGD:9068941 20200609 RGD mRNA:allelic imbalance:lymphocyte PMID:18204050|REF_RGD_ID:2293153 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 PMID:10389907|PMID:10788334|PMID:10811118|PMID:11251181|PMID:11278247|PMID:11320250|PMID:11504767|PMID:11739404|PMID:12204006|PMID:12393792|PMID:12400015|PMID:12566964|PMID:12732733|PMID:12810666|PMID:12938098|PMID:15024741|PMID:15235020|PMID:15290653|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15569676|PMID:15876480|PMID:16168118|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16949048|PMID:17100994|PMID:18273839|PMID:18680205|PMID:18763032|PMID:18783588|PMID:19208665|PMID:19370767|PMID:19594371|PMID:19770520|PMID:19996028|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20345474|PMID:20373018|PMID:20507347|PMID:20569256|PMID:20683152|PMID:21232165|PMID:21324516|PMID:21922593|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22172724|PMID:22486713|PMID:22713736|PMID:22776961|PMID:22798144|PMID:22843421|PMID:23161852|PMID:23199084|PMID:23469205|PMID:23683081|PMID:23867111|PMID:24033266|PMID:24131973|PMID:24312913|PMID:24504028|PMID:24884479|PMID:25330149|PMID:25400221|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25948282|PMID:26083025|PMID:26187060|PMID:26206375|PMID:26219728|PMID:26295337|PMID:26332594|PMID:26350514|PMID:26467025|PMID:26681312|PMID:26852130|PMID:26911350|PMID:27153395|PMID:27272900|PMID:27425403|PMID:27433846|PMID:27498913|PMID:27741520|PMID:27907908|PMID:27978560|PMID:28111427|PMID:28263838|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28492532|PMID:29161300|PMID:29215753|PMID:29335924|PMID:29339979|PMID:29433453|PMID:29446198|PMID:29492181|PMID:29667044|PMID:29797126|PMID:29961768|PMID:29998185|PMID:30067863|PMID:30093976|PMID:30209399|PMID:30287823|PMID:30606148|PMID:31368036|PMID:31825140|PMID:32295079|PMID:32426482|PMID:32467295|PMID:32658311|PMID:33309985|PMID:33558524|PMID:33875706|PMID:7795652|PMID:7837387|PMID:7894493|PMID:8644702|PMID:8723683|PMID:8968102|PMID:9510469|PMID:9525870|PMID:9663595 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4 PMID:10090881|PMID:10389907|PMID:10447273|PMID:10464624|PMID:10486320|PMID:10615237|PMID:10739756|PMID:10788334|PMID:10811118|PMID:10885601|PMID:11102986|PMID:11157798|PMID:11251181|PMID:11278247|PMID:11320250|PMID:11389159|PMID:11391658|PMID:11410501|PMID:11466700|PMID:11504767|PMID:11597388|PMID:11739404|PMID:11802209|PMID:11896095|PMID:11920621|PMID:12125210|PMID:12204006|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12566964|PMID:12601471|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12810666|PMID:12827452|PMID:12938098|PMID:14534301|PMID:14576434|PMID:14760071|PMID:14986830|PMID:15024741|PMID:15133502|PMID:15133503|PMID:15172985|PMID:15235020|PMID:15290653|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15569676|PMID:15876480|PMID:15951956|PMID:15994883|PMID:16030426|PMID:16168118|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16489001|PMID:16528604|PMID:16541315|PMID:16644204|PMID:16683254|PMID:16949048|PMID:16998791|PMID:17100994|PMID:17307836|PMID:17308087|PMID:17591843|PMID:18036263|PMID:18273839|PMID:18413725|PMID:18446624|PMID:18465347|PMID:18627636|PMID:18680205|PMID:18694767|PMID:18762988|PMID:18763032|PMID:18783588|PMID:18940477|PMID:19200354|PMID:19208665|PMID:19359128|PMID:19370767|PMID:19563646|PMID:19594371|PMID:19770520|PMID:19949876|PMID:19996028|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20683152|PMID:20727672|PMID:20730485|PMID:21119707|PMID:21232165|PMID:21324516|PMID:21348412|PMID:21473589|PMID:21503673|PMID:21523855|PMID:21702907|PMID:21709188|PMID:21735045|PMID:21834074|PMID:21922593|PMID:21946536|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22430266|PMID:22486713|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22666503|PMID:22713736|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22889855|PMID:23110154|PMID:23161852|PMID:23164213|PMID:23199084|PMID:23232912|PMID:23239986|PMID:23469205|PMID:23479189|PMID:23683081|PMID:23704984|PMID:23747895|PMID:23867111|PMID:23954390|PMID:24033266|PMID:24131973|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24504028|PMID:24667779|PMID:24728189|PMID:24737347|PMID:24884479|PMID:25085752|PMID:25330149|PMID:25400221|PMID:25452441|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26028024|PMID:26083025|PMID:26187060|PMID:26206375|PMID:26219728|PMID:26295337|PMID:26332594|PMID:26350514|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26852130|PMID:26911350|PMID:27062684|PMID:27153395|PMID:27257965|PMID:27272900|PMID:27425403|PMID:27433846|PMID:27495310|PMID:27498913|PMID:27553291|PMID:27741520|PMID:27907908|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28263838|PMID:28283652|PMID:28285342|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28490613|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28724667|PMID:28781887|PMID:28831036|PMID:28993434|PMID:29021639|PMID:29161300|PMID:29215753|PMID:29280214|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360161|PMID:29433453|PMID:29446198|PMID:29478780|PMID:29492181|PMID:29625052|PMID:29667044|PMID:29785135|PMID:29790872|PMID:29797126|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30209399|PMID:30257991|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30458859|PMID:30489631|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30676620|PMID:30702160|PMID:30765603|PMID:30962250|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31159747|PMID:31263571|PMID:31347298|PMID:31360904|PMID:31368036|PMID:31447099 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4 PMID:31454914|PMID:31528241|PMID:31825140|PMID:31851867|PMID:32039725|PMID:32058061|PMID:32123317|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32467295|PMID:32658311|PMID:32719484|PMID:32817299|PMID:32854451|PMID:32885271|PMID:33087888|PMID:33309985|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33875706|PMID:7795652|PMID:7837387|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8554067|PMID:8595428|PMID:8644702|PMID:8644703|PMID:8723683|PMID:8833256|PMID:8841191|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9510469|PMID:9525870|PMID:9634504|PMID:9663595|PMID:9760198|PMID:9805131|PMID:9836472 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4 PMID:31454914|PMID:31528241|PMID:31825140|PMID:31851867|PMID:31911673|PMID:32039725|PMID:32058061|PMID:32123317|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32467295|PMID:32658311|PMID:32719484|PMID:32817299|PMID:32854451|PMID:32885271|PMID:33087888|PMID:33309985|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33875706|PMID:36988593|PMID:7795652|PMID:7837387|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8554067|PMID:8595428|PMID:8644702|PMID:8644703|PMID:8723683|PMID:8833256|PMID:8841191|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9510469|PMID:9525870|PMID:9634504|PMID:9663595|PMID:9760198|PMID:9805131|PMID:9836472 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:1793 pancreatic cancer susceptibility ISO RGD:69132 D RGD:7240710 20230517 OMIM 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:219 colon cancer disease_progression ISO RGD:69132 D RGD:9068941 20210521 RGD PMID:33583275|REF_RGD_ID:126925959 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:219 colon cancer susceptibility ISO RGD:69132 D RGD:9068941 20200609 RGD DNA:mutation PMID:7907678|REF_RGD_ID:1599497 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:2394 ovarian cancer ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:10227398|PMID:10340909|PMID:10389907|PMID:10644434|PMID:10699917|PMID:11044354|PMID:11102986|PMID:11149425|PMID:11157798|PMID:11251181|PMID:11504767|PMID:11802209|PMID:12181777|PMID:12183412|PMID:12393792|PMID:12402341|PMID:12496476|PMID:12566964|PMID:12655560|PMID:12732733|PMID:14647443|PMID:14973102|PMID:15024741|PMID:15145354|PMID:15235020|PMID:15353005|PMID:15383404|PMID:15385441|PMID:15865297|PMID:15876480|PMID:16168118|PMID:16267036|PMID:16403807|PMID:16489001|PMID:16518693|PMID:16949048|PMID:17100994|PMID:17305420|PMID:17308087|PMID:17453335|PMID:17574969|PMID:17688236|PMID:17924331|PMID:18284688|PMID:18340530|PMID:18493658|PMID:18763032|PMID:18783588|PMID:18951461|PMID:19016756|PMID:19200354|PMID:19208665|PMID:19491284|PMID:19563646|PMID:19941162|PMID:20103620|PMID:20104584|PMID:20373018|PMID:20516115|PMID:21232165|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21473589|PMID:21553119|PMID:21559243|PMID:21702907|PMID:21725363|PMID:21751003|PMID:21965345|PMID:21989927|PMID:21990134|PMID:22006311|PMID:22034289|PMID:22217648|PMID:22476429|PMID:22505045|PMID:22516946|PMID:22711857|PMID:22752604|PMID:22753008|PMID:22776961|PMID:22798144|PMID:22889855|PMID:22970155|PMID:23161852|PMID:23199084|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23683081|PMID:23867111|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24218521|PMID:24249303|PMID:24312913|PMID:24489791|PMID:24504028|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24845084|PMID:25186627|PMID:25330149|PMID:25452441|PMID:25472942|PMID:25525159|PMID:25556971|PMID:25637381|PMID:25646469|PMID:25682074|PMID:25741868|PMID:25802882|PMID:25823446|PMID:25939603|PMID:25948282|PMID:26028024|PMID:26083025|PMID:26206375|PMID:26219728|PMID:26295337|PMID:26332594|PMID:26350514|PMID:26467025|PMID:26541979|PMID:26689913|PMID:26709275|PMID:26852130|PMID:26884819|PMID:26976419|PMID:27153395|PMID:27157322|PMID:27257965|PMID:27272900|PMID:27425403|PMID:27498913|PMID:27658390|PMID:27741520|PMID:27802165|PMID:27831900|PMID:27907908|PMID:28111427|PMID:28176296|PMID:28265380|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28440963|PMID:28477318|PMID:28480178|PMID:28492532|PMID:28664449|PMID:28664506|PMID:28692638|PMID:28724667|PMID:28831036|PMID:28970858|PMID:28993434|PMID:29020732|PMID:29161300|PMID:29176636|PMID:29215753|PMID:29297111|PMID:29310832|PMID:29335924|PMID:29339979|PMID:29446198|PMID:29470806|PMID:29667044|PMID:29681614|PMID:29712865|PMID:29731985|PMID:29752822|PMID:30093976|PMID:30103829|PMID:30209399|PMID:30287823|PMID:30415210|PMID:30555256|PMID:30606148|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30825404|PMID:30875412|PMID:31131967|PMID:31159747|PMID:31214711|PMID:31372034|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31528241|PMID:31742824|PMID:31825140|PMID:31911673|PMID:32295079|PMID:32338768|PMID:32426482|PMID:32467295|PMID:32710294|PMID:32832836|PMID:33087929|PMID:33098347|PMID:33151324|PMID:33309985|PMID:33442023|PMID:33468216|PMID:33471991|PMID:33875706|PMID:34301763|PMID:36988593|PMID:7611277|PMID:7837387|PMID:7894493|PMID:8644702|PMID:8723683|PMID:8807330|PMID:9150149|PMID:9150154|PMID:9510469|PMID:9663595 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:2394 ovarian cancer susceptibility ISO RGD:69132 D RGD:9068941 20200609 RGD DNA:insertion: :5382insC PMID:18256760|REF_RGD_ID:2293152 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:2871 endometrial carcinoma ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10090881|PMID:10447273|PMID:10464624|PMID:10667592|PMID:10667595|PMID:10739756|PMID:10788334|PMID:10885601|PMID:11157798|PMID:11251181|PMID:11466700|PMID:11504767|PMID:11597388|PMID:11802209|PMID:11896095|PMID:12125210|PMID:12393792|PMID:12402332|PMID:12496476|PMID:12566964|PMID:12752644|PMID:12771565|PMID:12955716|PMID:14576434|PMID:14986830|PMID:15024741|PMID:15133502|PMID:15235020|PMID:15383404|PMID:15876480|PMID:15951956|PMID:15994883|PMID:16014699|PMID:16030426|PMID:16168118|PMID:16267036|PMID:16284991|PMID:16541315|PMID:16685647|PMID:17307836|PMID:17308087|PMID:17574969|PMID:17591843|PMID:17924331|PMID:18489799|PMID:18694767|PMID:18762988|PMID:18763032|PMID:18783588|PMID:18936166|PMID:18940477|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19340607|PMID:19359128|PMID:19563646|PMID:20104584|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20730485|PMID:21119707|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21702907|PMID:21834074|PMID:21965345|PMID:21989927|PMID:21990134|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22185575|PMID:22430266|PMID:22535016|PMID:22666503|PMID:22776961|PMID:22889855|PMID:23161852|PMID:23199084|PMID:23232912|PMID:23469205|PMID:23683081|PMID:23867111|PMID:23954390|PMID:24033266|PMID:24055113|PMID:24312913|PMID:24319668|PMID:24504028|PMID:24737347|PMID:24845084|PMID:24884479|PMID:25330149|PMID:25452441|PMID:25472942|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25777348|PMID:25948282|PMID:25980754|PMID:26083025|PMID:26219728|PMID:26295337|PMID:26350514|PMID:26440929|PMID:26467025|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26852130|PMID:26884819|PMID:27062684|PMID:27272900|PMID:27425403|PMID:27433846|PMID:27741520|PMID:27914478|PMID:27989354|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28265380|PMID:28285342|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28724667|PMID:28831036|PMID:29161300|PMID:29168416|PMID:29297111|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29433453|PMID:29446198|PMID:29478780|PMID:29492181|PMID:29625052|PMID:29712865|PMID:29790872|PMID:29907814|PMID:29961768|PMID:30067863|PMID:30103829|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30257646|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30489631|PMID:30606148|PMID:30613976|PMID:30676620|PMID:30702160|PMID:30825404|PMID:31065452|PMID:31090900|PMID:31159747|PMID:31360904|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31528241|PMID:31825140|PMID:31851867|PMID:32039725|PMID:32058061|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32719484|PMID:32854451|PMID:32885271|PMID:33098347|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:7581445|PMID:7837387|PMID:7894492|PMID:8531967|PMID:8644702|PMID:8644703|PMID:8833256|PMID:8841191|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9634504|PMID:9663595 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:3007 breast ductal carcinoma ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma PMID:10196379|PMID:11400546|PMID:14555511|PMID:15235020|PMID:16014699|PMID:17341484|PMID:17585057|PMID:19661094|PMID:20104584|PMID:21232165|PMID:21702907|PMID:21708019|PMID:21965345|PMID:21990134|PMID:22136207|PMID:22703879|PMID:23192404|PMID:23249957|PMID:23469205|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532|PMID:9063749 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:3008 invasive ductal carcinoma ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infiltrating duct carcinoma of breast PMID:11179017|PMID:11956590|PMID:12698193|PMID:12955716|PMID:14517958|PMID:14760071|PMID:15145354|PMID:16455195|PMID:17645508|PMID:20104584|PMID:20727672|PMID:21702907|PMID:22711857|PMID:22798144|PMID:23469205|PMID:23479189|PMID:23633455|PMID:24884479|PMID:25256238|PMID:25741868|PMID:25863477|PMID:26026974|PMID:26295337|PMID:26467025|PMID:28324225|PMID:28492532|PMID:29446198|PMID:30078507|PMID:30702160|PMID:30720863|PMID:7493024 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:305 carcinoma ISO RGD:69132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12203372 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:3247 rhabdomyosarcoma ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:12920083|PMID:16287141|PMID:20104584|PMID:21232165|PMID:22923021|PMID:23397983|PMID:23635950|PMID:25741868|PMID:25940717|PMID:26295337|PMID:26306726|PMID:26467025|PMID:26852130|PMID:28492532|PMID:28740454|PMID:30940100|PMID:32772980 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:3458 breast adenocarcinoma treatment ISO RGD:69132 D RGD:9068941 20210521 RGD PMID:8589721|REF_RGD_ID:126925966 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:3459 breast carcinoma ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:10406662|PMID:10486320|PMID:10737987|PMID:10788334|PMID:10811118|PMID:11157798|PMID:11179017|PMID:11251181|PMID:11278247|PMID:11320250|PMID:11359908|PMID:11431698|PMID:11504767|PMID:11597388|PMID:11606101|PMID:11710890|PMID:11739404|PMID:11802208|PMID:11802209|PMID:11916966|PMID:11920621|PMID:12112655|PMID:12181777|PMID:12204006|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12566964|PMID:12601471|PMID:12732733|PMID:12810666|PMID:12872265|PMID:12938098|PMID:12955716|PMID:15024741|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15290653|PMID:15340362|PMID:15365993|PMID:15383404|PMID:15569676|PMID:15689452|PMID:15876480|PMID:15923272|PMID:16168118|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16528604|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16758124|PMID:16905680|PMID:16943438|PMID:16998791|PMID:17011978|PMID:17080309|PMID:17305420|PMID:17308087|PMID:17576681|PMID:17591843|PMID:17924331|PMID:18036263|PMID:18446624|PMID:18465347|PMID:18627636|PMID:18680205|PMID:18693280|PMID:18763032|PMID:18783588|PMID:19016756|PMID:19208665|PMID:19404736|PMID:19594371|PMID:19770520|PMID:19949876|PMID:19996028|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20189727|PMID:20215541|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20950396|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21156238|PMID:21232165|PMID:21324516|PMID:2144777|PMID:21447777|PMID:21520273|PMID:21559243|PMID:21702907|PMID:21720365|PMID:21913181|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22044689|PMID:22160602|PMID:22172724|PMID:22399190|PMID:22703879|PMID:22713736|PMID:22776961|PMID:22798144|PMID:22843421|PMID:23161852|PMID:23199084|PMID:23233716|PMID:23239986|PMID:23348723|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704984|PMID:23867111|PMID:24033266|PMID:24065114|PMID:24131973|PMID:24249303|PMID:24312913|PMID:24504028|PMID:24569164|PMID:24667779|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25186627|PMID:25330149|PMID:25400221|PMID:25476495|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25748678|PMID:25782689|PMID:25850536|PMID:25863477|PMID:25884701|PMID:25948282|PMID:26028024|PMID:26083025|PMID:26187060|PMID:26219728|PMID:26295337|PMID:26350514|PMID:26467025|PMID:26541979|PMID:26656232|PMID:26681312|PMID:26845104|PMID:26848529|PMID:26852130|PMID:27062684|PMID:27153395|PMID:27257965|PMID:27272900|PMID:27328445|PMID:27425403|PMID:27433846|PMID:27553291|PMID:27741520|PMID:27908594|PMID:27978560|PMID:28176296|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28492532|PMID:28724667|PMID:28781887|PMID:28873162|PMID:28888541|PMID:28993434|PMID:29021639|PMID:29116469|PMID:29161300|PMID:29176636|PMID:29233532|PMID:29280214|PMID:29335924|PMID:29339979|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29492181|PMID:29506128|PMID:29797126|PMID:29805665|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30209399|PMID:30266954|PMID:30309222|PMID:30350268|PMID:30606148|PMID:30675319|PMID:30702160|PMID:30728895|PMID:30765603|PMID:30972954|PMID:31131967|PMID:31159747|PMID:31341520|PMID:31368036|PMID:31467961|PMID:31815095|PMID:31911673|PMID:32295079|PMID:32438681|PMID:32658311|PMID:32733560|PMID:32885271|PMID:33558524|PMID:36988593|PMID:7795652|PMID:7837387|PMID:7894493|PMID:7939630|PMID:8554067|PMID:8595420|PMID:8644702|PMID:8807330|PMID:8968102|PMID:8972225|PMID:9063749|PMID:9523200|PMID:9525870|PMID:9536098|PMID:9663595|PMID:9760198 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:3459 breast carcinoma disease_progression ISO RGD:69132 D RGD:9068941 20200609 RGD protein:altered localization:cytoplasm PMID:18400253|REF_RGD_ID:2293150 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:69132 D RGD:9068941 20210521 RGD DNA:SNP: :rs799917 (human) PMID:23749772|REF_RGD_ID:126925960 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:69132 D RGD:9068941 20210604 RGD PMID:21575522|PMID:23128816|REF_RGD_ID:126925968|REF_RGD_ID:127229935 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:69132 D RGD:9068941 20210604 RGD DNA:hypermethylation:promoter PMID:23335114|REF_RGD_ID:127229949 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:69132 D RGD:9068941 20210604 RGD PMID:24443257|REF_RGD_ID:127229948 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:4001 ovarian carcinoma ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:10227398|PMID:10389907|PMID:10804288|PMID:11149425|PMID:11595708|PMID:11802209|PMID:12402341|PMID:12655560|PMID:15145354|PMID:15865297|PMID:16267036|PMID:16826315|PMID:18159056|PMID:19016756|PMID:20104584|PMID:20373018|PMID:21324516|PMID:21553119|PMID:21614564|PMID:22006311|PMID:22752604|PMID:22798144|PMID:23175448|PMID:23536787|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24218521|PMID:24312913|PMID:24916970|PMID:25452441|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25802882|PMID:25948282|PMID:26028024|PMID:26187060|PMID:26295337|PMID:26467025|PMID:26709275|PMID:26848529|PMID:27062684|PMID:27741520|PMID:27831900|PMID:27836010|PMID:28176296|PMID:28324225|PMID:28492532|PMID:28541631|PMID:28724667|PMID:28993434|PMID:29310832|PMID:29339979|PMID:29446198|PMID:29470806|PMID:29752822|PMID:29907814|PMID:30093976|PMID:30555256|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30875412|PMID:30968603|PMID:31159747|PMID:31336956|PMID:31372034|PMID:31447099|PMID:31528241|PMID:31825140|PMID:32318955|PMID:32438681|PMID:32710294|PMID:32832836|PMID:33087929|PMID:33151324|PMID:33442023|PMID:36988593|PMID:7894493|PMID:8808710|PMID:9150154 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:403 mouth disease ISO RGD:69132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:4362 cervical cancer disease_progression ISO RGD:69132 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:12773202|REF_RGD_ID:2298941 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:4441 dysgerminoma ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dysgerminoma PMID:11376024|PMID:16683254|PMID:19491284|PMID:20104584|PMID:21204799|PMID:23479189|PMID:23536787|PMID:24010542|PMID:24312913|PMID:24372583|PMID:24728189|PMID:25741868|PMID:26295337|PMID:26296701|PMID:26467025|PMID:26822237|PMID:27062684|PMID:27836010|PMID:28492532|PMID:28993434|PMID:29446198|PMID:29907814|PMID:30078507|PMID:30130155|PMID:30322717|PMID:30702160|PMID:30720863|PMID:31159747|PMID:32885271|PMID:9150151 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:4905 pancreatic carcinoma ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of head of pancreas | ClinVar Annotator: match by term: Carcinoma of pancreas PMID:10667592|PMID:10667595|PMID:12566964|PMID:15024741|PMID:16168118|PMID:16284991|PMID:16685647|PMID:18489799|PMID:19147582|PMID:19340607|PMID:20104584|PMID:25452441|PMID:25741868|PMID:25777348|PMID:26467025|PMID:26681312|PMID:28324225|PMID:28492532|PMID:29446198|PMID:30257646|PMID:30702160|PMID:32295079|PMID:9150174 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5517 stomach carcinoma disease_progression ISO RGD:69132 D RGD:9068941 20210521 RGD PMID:23569343|REF_RGD_ID:9589059 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10612827|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12060539|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:125827|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14722926|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:15001988|PMID:15004537|PMID:15024741 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:15026808|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16172191|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16633366|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21461827|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25318351|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:255556971|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25723446|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27352967|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209299|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31409081|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31959133|PMID:32008151|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32125938|PMID:32195105|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32806537|PMID:32812259|PMID:32856854|PMID:32866190|PMID:33010199|PMID:33067557|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33630411|PMID:33850299|PMID:33875564|PMID:33875706 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:33948387|PMID:34063308|PMID:34271787|PMID:34301763|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9714446|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27352967|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29202330|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209299|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31959133|PMID:32008151|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32125938|PMID:32195105|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32806537|PMID:32812259|PMID:32856854|PMID:32866190|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33471991|PMID:33526602 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33630411|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34453642|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9714446|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16172191|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21461827|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31368036|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31959133|PMID:32008151|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32806537|PMID:32812259|PMID:32856854|PMID:32866190|PMID:32885271|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33630411|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34572941|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33468216|PMID:33471991 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34749799|PMID:35464868|PMID:35535697|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16172191|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21461827|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33428613|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34749799|PMID:35300142|PMID:35464868|PMID:35535697|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32571788|PMID:32599251|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34749799|PMID:35300142|PMID:35464868|PMID:35535697|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32571788|PMID:32599251|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33113089|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34749799|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35300142|PMID:35464868|PMID:35535697|PMID:35886069|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32050665|PMID:32068069|PMID:32072338 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34063308|PMID:34072659|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35300142|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35886069|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:14871810|PMID:14961556|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34063308|PMID:34072659|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35300142|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35886069|PMID:36385762|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10612827|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12060539|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12928470|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35281878|PMID:35300142|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35886069|PMID:35980532|PMID:36385762|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35886069|PMID:35980532|PMID:36385762|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21270786|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25974703|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27981572|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35886069|PMID:35980532|PMID:36385762|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10612827|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11941481|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12060539|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12928470|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35980532|PMID:36171434|PMID:36329109|PMID:36385762|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome susceptibility ISO RGD:69132 D RGD:7240710 20230517 OMIM 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:5744 ovary serous adenocarcinoma ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian serous surface papillary adenocarcinoma PMID:16084575|PMID:16455195|PMID:16949048|PMID:17100994|PMID:19656164|PMID:20033483|PMID:20104584|PMID:20950396|PMID:22160602|PMID:22217648|PMID:22382806|PMID:22762150|PMID:22798144|PMID:23633455|PMID:23961350|PMID:24728189|PMID:24916970|PMID:25741868|PMID:25863477|PMID:26402875|PMID:26467025|PMID:27167707|PMID:27836010|PMID:28111427|PMID:28492532|PMID:29348823|PMID:29446198|PMID:29907814|PMID:30257646|PMID:30702160 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:630 genetic disease ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:31911673 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:6741 bilateral breast cancer ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: bilateral breast cancer PMID:11376024|PMID:16683254|PMID:19491284|PMID:20104584|PMID:21204799|PMID:23479189|PMID:23536787|PMID:24010542|PMID:24312913|PMID:24372583|PMID:24728189|PMID:25741868|PMID:26295337|PMID:26296701|PMID:26467025|PMID:26822237|PMID:27062684|PMID:27836010|PMID:28492532|PMID:28993434|PMID:29446198|PMID:29907814|PMID:30078507|PMID:30130155|PMID:30322717|PMID:30702160|PMID:30720863|PMID:31159747|PMID:32885271|PMID:9150151 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:8584 Burkitt lymphoma ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Burkitt lymphoma PMID:17262179|PMID:26467025|PMID:28492532|PMID:31911673 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:69132 D RGD:9068941 20200609 RGD DNA:deletions:exon PMID:10442317|REF_RGD_ID:2298942 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:69132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12203372 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9002221 Hyperplasia ISO RGD:10246 D RGD:9068941 20200609 RGD PMID:11889595|REF_RGD_ID:2293156 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9002304 Prostatic Neoplasms ISO RGD:69132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17585057 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9002644 Premature Aging ISO RGD:10246 D RGD:9068941 20200609 RGD PMID:12533509|REF_RGD_ID:10059406 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:10090881|PMID:10196379|PMID:10227398|PMID:10441573|PMID:10447273|PMID:10464624|PMID:10486320|PMID:10502781|PMID:10528853|PMID:10615237|PMID:10644434|PMID:10739756|PMID:10788334|PMID:10811118|PMID:10885601|PMID:11030418|PMID:11102986|PMID:11157798|PMID:11179017|PMID:11251181|PMID:11278247|PMID:11320250|PMID:11389159|PMID:11391658|PMID:11410501|PMID:11462242|PMID:11466700|PMID:11504767|PMID:11597388|PMID:11606101|PMID:11710890|PMID:11739404|PMID:11802209|PMID:11844822|PMID:11896095|PMID:11920621|PMID:11938448|PMID:12097257|PMID:12112655|PMID:12125210|PMID:12181777|PMID:12204006|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12491499|PMID:12505256|PMID:12566964|PMID:12601471|PMID:12655560|PMID:12672316|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12810666|PMID:12827452|PMID:12938098|PMID:12955716|PMID:14534301|PMID:14576434|PMID:14647443|PMID:14760071|PMID:14986830|PMID:15024741|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15172985|PMID:15217508|PMID:15235020|PMID:15290653|PMID:15365993|PMID:15383404|PMID:15569676|PMID:15712267|PMID:15865297|PMID:15876480|PMID:15951956|PMID:15951958|PMID:15994883|PMID:16030426|PMID:16168118|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16489001|PMID:16528604|PMID:16541315|PMID:16615107|PMID:16644204|PMID:16683254|PMID:16777318|PMID:16847550|PMID:16998791|PMID:17148771|PMID:17221156|PMID:17307836|PMID:17308087|PMID:17576681|PMID:17591843|PMID:17688236|PMID:18036263|PMID:18159056|PMID:18228134|PMID:18413725|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18627636|PMID:18680205|PMID:18694767|PMID:18703817|PMID:18762988|PMID:18763032|PMID:18783588|PMID:18824701|PMID:18940477|PMID:18980973|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19359128|PMID:19370767|PMID:19563646|PMID:19594371|PMID:19770520|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20051372|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20189727|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20683152|PMID:20727672|PMID:20730485|PMID:20807450|PMID:20950396|PMID:21119707|PMID:21120943|PMID:21147198|PMID:21203900|PMID:21232165|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21702907|PMID:21709188|PMID:21729660|PMID:21735045|PMID:21769658|PMID:21834074|PMID:21922593|PMID:21946536|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22034289|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22430266|PMID:22434525|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22666503|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23110154|PMID:23161852|PMID:23164213|PMID:23199084|PMID:23232912|PMID:23239986|PMID:23289006|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23683081|PMID:23697973|PMID:23704984|PMID:23747895|PMID:23867111|PMID:23954390|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24131973|PMID:24218521|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24504028|PMID:24618965|PMID:24667779|PMID:24728189|PMID:24737347|PMID:24827135|PMID:24884479|PMID:24916970|PMID:25036526|PMID:25066507|PMID:25085752|PMID:25186627|PMID:25330149|PMID:25400221|PMID:25452441|PMID:25476495|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25724305|PMID:25741868|PMID:25777348|PMID:25782689|PMID:25823446|PMID:25850536|PMID:25863477|PMID:25880076|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26014432|PMID:26028024|PMID:26083025|PMID:26187060|PMID:26219728|PMID:26287763|PMID:26295337|PMID:26350514|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26845104|PMID:26852130|PMID:27062684|PMID:27067391|PMID:27153395|PMID:27157322|PMID:27167707|PMID:27257965|PMID:27272900 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:27425403|PMID:27433846|PMID:27463008|PMID:27495310|PMID:27535533|PMID:27553291|PMID:27741520|PMID:27831900|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28049106|PMID:28050010|PMID:28091860|PMID:28111427|PMID:28123851|PMID:28145423|PMID:28176296|PMID:28184945|PMID:28194609|PMID:28283652|PMID:28285342|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28715532|PMID:28724667|PMID:28740454|PMID:28781887|PMID:28831036|PMID:28993434|PMID:29021639|PMID:29053726|PMID:29116469|PMID:29161300|PMID:29176636|PMID:29280214|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360161|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29550896|PMID:29625052|PMID:29752822|PMID:29790872|PMID:29797126|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30209399|PMID:30257646|PMID:30257991|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30458859|PMID:30489631|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30676620|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30765603|PMID:30875412|PMID:30962250|PMID:30979843|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31159747|PMID:31263571|PMID:31336956|PMID:31347298|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31411802|PMID:31447099|PMID:31454914|PMID:31528241|PMID:31825140|PMID:31851867|PMID:32039725|PMID:32058061|PMID:32123317|PMID:32125938|PMID:32231684|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32778078|PMID:32832836|PMID:32854451|PMID:32885271|PMID:33087888|PMID:33087929|PMID:33151324|PMID:33309985|PMID:33442023|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33558524|PMID:7611277|PMID:7663517|PMID:7795652|PMID:7837387|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8595420|PMID:8595428|PMID:8644702|PMID:8644703|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9145677|PMID:9150149|PMID:9150153|PMID:9150154|PMID:9333265|PMID:9525870|PMID:9536098|PMID:9634504|PMID:9663595|PMID:9667259|PMID:9760198|PMID:9805131|PMID:9836472 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:10090881|PMID:10196379|PMID:10227398|PMID:10441573|PMID:10447273|PMID:10464624|PMID:10486320|PMID:10502781|PMID:10528853|PMID:10615237|PMID:10644434|PMID:10739756|PMID:10788334|PMID:10811118|PMID:10885601|PMID:11030418|PMID:11102986|PMID:11157798|PMID:11179017|PMID:11251181|PMID:11278247|PMID:11320250|PMID:11389159|PMID:11391658|PMID:11410501|PMID:11462242|PMID:11466700|PMID:11504767|PMID:11597388|PMID:11606101|PMID:11710890|PMID:11739404|PMID:11802209|PMID:11844822|PMID:11896095|PMID:11920621|PMID:11938448|PMID:12097257|PMID:12112655|PMID:12125210|PMID:12181777|PMID:12204006|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12491499|PMID:12505256|PMID:12566964|PMID:12601471|PMID:12655560|PMID:12672316|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12810666|PMID:12827452|PMID:12938098|PMID:12955716|PMID:14534301|PMID:14576434|PMID:14647443|PMID:14760071|PMID:14986830|PMID:15024741|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15172985|PMID:15217508|PMID:15235020|PMID:15290653|PMID:15365993|PMID:15383404|PMID:15569676|PMID:15712267|PMID:15865297|PMID:15876480|PMID:15951956|PMID:15951958|PMID:15994883|PMID:16030426|PMID:16168118|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16489001|PMID:16515586|PMID:16528604|PMID:16541315|PMID:16615107|PMID:16644204|PMID:16683254|PMID:16777318|PMID:16847550|PMID:16998791|PMID:17148771|PMID:17221156|PMID:17307836|PMID:17308087|PMID:17576681|PMID:17591843|PMID:17688236|PMID:18036263|PMID:18159056|PMID:18228134|PMID:18413725|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18627636|PMID:18680205|PMID:18694767|PMID:18703817|PMID:18762988|PMID:18763032|PMID:18783588|PMID:18824701|PMID:18940477|PMID:18980973|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19359128|PMID:19370767|PMID:19563646|PMID:19594371|PMID:19770520|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20051372|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20189727|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20683152|PMID:20727672|PMID:20730485|PMID:20807450|PMID:20950396|PMID:21119707|PMID:21120943|PMID:21147198|PMID:21203900|PMID:21232165|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21702907|PMID:21709188|PMID:21729660|PMID:21735045|PMID:21769658|PMID:21834074|PMID:21922593|PMID:21946536|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22034289|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22430266|PMID:22434525|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22666503|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23110154|PMID:23161852|PMID:23164213|PMID:23199084|PMID:23232912|PMID:23239986|PMID:23289006|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23683081|PMID:23697973|PMID:23704984|PMID:23747895|PMID:23867111|PMID:23954390|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24131973|PMID:24218521|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24504028|PMID:24618965|PMID:24667779|PMID:24728189|PMID:24737347|PMID:24827135|PMID:24884479|PMID:24916970|PMID:25036526|PMID:25066507|PMID:25085752|PMID:25186627|PMID:25330149|PMID:25400221|PMID:25452441|PMID:25476495|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25724305|PMID:25741868|PMID:25777348|PMID:25782689|PMID:25823446|PMID:25850536|PMID:25863477|PMID:25880076|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26014432|PMID:26028024|PMID:26083025|PMID:26187060|PMID:26219728|PMID:26287763|PMID:26295337|PMID:26350514|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26845104|PMID:26848529|PMID:26852130|PMID:27062684|PMID:27067391|PMID:27153395|PMID:27157322|PMID:27167707 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:27257965|PMID:27272900|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27495310|PMID:27535533|PMID:27553291|PMID:27656653|PMID:27741520|PMID:27831900|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28049106|PMID:28050010|PMID:28091860|PMID:28111427|PMID:28123851|PMID:28145423|PMID:28176296|PMID:28184945|PMID:28194609|PMID:28283652|PMID:28285342|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28715532|PMID:28724667|PMID:28740454|PMID:28781887|PMID:28831036|PMID:28993434|PMID:29021639|PMID:29053726|PMID:29116469|PMID:29161300|PMID:29176636|PMID:29280214|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360161|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29550896|PMID:29625052|PMID:29752822|PMID:29790872|PMID:29797126|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30209399|PMID:30257646|PMID:30257991|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30458859|PMID:30489631|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30676620|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30765603|PMID:30875412|PMID:30962250|PMID:30979843|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31159747|PMID:31263571|PMID:31336956|PMID:31347298|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31411802|PMID:31447099|PMID:31454914|PMID:31528241|PMID:31825140|PMID:31851867|PMID:31911673|PMID:32039725|PMID:32058061|PMID:32123317|PMID:32125938|PMID:32231684|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32778078|PMID:32832836|PMID:32854451|PMID:32885271|PMID:33087888|PMID:33087929|PMID:33151324|PMID:33309985|PMID:33442023|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33558524|PMID:36988593|PMID:7611277|PMID:7663517|PMID:7795652|PMID:7837387|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8595420|PMID:8595428|PMID:8644702|PMID:8644703|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9145677|PMID:9150149|PMID:9150153|PMID:9150154|PMID:9333265|PMID:9525870|PMID:9536098|PMID:9634504|PMID:9663595|PMID:9667259|PMID:9760198|PMID:9805131|PMID:9836472 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9004203 Chromosome Breakage ISO RGD:69132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15894690 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9004232 Fanconi Anemia Complementation Group S ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP S | ClinVar Annotator: match by term: Fanconi anemia, complementation group S PMID:10090881|PMID:10359546|PMID:10447273|PMID:10464624|PMID:10486320|PMID:10615237|PMID:10739756|PMID:10788334|PMID:10811118|PMID:10866029|PMID:10885601|PMID:11102986|PMID:11157798|PMID:11179017|PMID:11251181|PMID:11278247|PMID:11320250|PMID:11389159|PMID:11391658|PMID:11410501|PMID:11466700|PMID:11504767|PMID:11597388|PMID:11739404|PMID:11802209|PMID:11896095|PMID:11920621|PMID:11956590|PMID:12125210|PMID:12204006|PMID:12354934|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12496476|PMID:12566964|PMID:12601471|PMID:12698193|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12810666|PMID:12827452|PMID:12938098|PMID:12955716|PMID:14517958|PMID:14534301|PMID:14576434|PMID:14760071|PMID:14986830|PMID:15004537|PMID:15024741|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146557|PMID:15172985|PMID:15235020|PMID:15290653|PMID:15365993|PMID:15383404|PMID:15569676|PMID:15876480|PMID:15951956|PMID:15994883|PMID:16030426|PMID:16168118|PMID:16227521|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16403807|PMID:16455195|PMID:16489001|PMID:16515586|PMID:16528604|PMID:16541315|PMID:16644204|PMID:16683254|PMID:16998791|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17369502|PMID:17574969|PMID:17591843|PMID:17645508|PMID:17924331|PMID:18036263|PMID:18285836|PMID:18413725|PMID:18446624|PMID:18465347|PMID:18627636|PMID:18680205|PMID:18694767|PMID:18762988|PMID:18763032|PMID:18783588|PMID:18824701|PMID:18940477|PMID:19200354|PMID:19208665|PMID:19359128|PMID:19563646|PMID:19594371|PMID:19770520|PMID:19949876|PMID:19996028|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20683152|PMID:20727672|PMID:20730485|PMID:21119707|PMID:21232165|PMID:21324516|PMID:21348412|PMID:21356067|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21523855|PMID:21702907|PMID:21709188|PMID:21725363|PMID:21735045|PMID:21834074|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22430266|PMID:22476429|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22666503|PMID:22711857|PMID:22713736|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22889855|PMID:23110154|PMID:23161852|PMID:23164213|PMID:23199084|PMID:23232912|PMID:23239986|PMID:23269703|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23580280|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23867111|PMID:23954390|PMID:24033266|PMID:24055113|PMID:24131973|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24569164|PMID:24667779|PMID:24728189|PMID:24737347|PMID:24845084|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25256238|PMID:25330149|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25472942|PMID:25525159|PMID:25556971|PMID:25682074|PMID:25741868|PMID:25748678|PMID:25782689|PMID:25823446|PMID:25863477|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26026974|PMID:26028024|PMID:26083025|PMID:26187060|PMID:2618727|PMID:26219728|PMID:26236408|PMID:26287763|PMID:26295337|PMID:26350514|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26786923|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852130|PMID:26884819|PMID:26913838|PMID:27062684|PMID:27083775|PMID:27153395|PMID:27257965|PMID:27272900|PMID:27425403|PMID:27433846|PMID:27495310|PMID:27553291|PMID:27741520|PMID:27836010|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28176296|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28490613|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28724667|PMID:28781887|PMID:28831036|PMID:28993434|PMID:29021639|PMID:29061375|PMID:29116469|PMID:29133208|PMID:29161300 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9004232 Fanconi Anemia Complementation Group S ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP S | ClinVar Annotator: match by term: Fanconi anemia, complementation group S PMID:29280214|PMID:29297111|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360161|PMID:29433453|PMID:29446198|PMID:29478780|PMID:29492181|PMID:29625052|PMID:29712865|PMID:29790872|PMID:29797126|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30209399|PMID:30219179|PMID:30257991|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30458859|PMID:30489631|PMID:30606148|PMID:30613976|PMID:30676620|PMID:30702160|PMID:30720863|PMID:30765603|PMID:30825404|PMID:30875412|PMID:30962250|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31159747|PMID:31209999|PMID:31263571|PMID:31341520|PMID:31347298|PMID:31360904|PMID:31368036|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31528241|PMID:31825140|PMID:31851867|PMID:31871297|PMID:32039725|PMID:32058061|PMID:32123317|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32658311|PMID:32719484|PMID:32854451|PMID:32885271|PMID:33087888|PMID:33098347|PMID:33309985|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33646313|PMID:34413315|PMID:36988593|PMID:7493024|PMID:7663517|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8554067|PMID:8595428|PMID:8606385|PMID:8644702|PMID:8644703|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9333265|PMID:9482581|PMID:9525870|PMID:9634504|PMID:9663595|PMID:9667259|PMID:9760198|PMID:9805131|PMID:9836472 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9004232 Fanconi Anemia Complementation Group S susceptibility ISO RGD:69132 D RGD:7240710 20230517 OMIM 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2218 D RGD:9068941 20200609 RGD PMID:12203372|REF_RGD_ID:1599502 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12203372|PMID:22767648 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69132 D RGD:9068941 20200609 RGD PMID:17505536|REF_RGD_ID:2293155 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9005233 Experimental Mammary Neoplasms susceptibility ISO RGD:10246 D RGD:9068941 20200609 RGD PMID:18443292|REF_RGD_ID:2293149 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12810666|PMID:12815598|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16172191|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17545591|PMID:17550235|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20437199|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21461827|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096355|PMID:23110154|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24082139|PMID:24094589 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24104880|PMID:24131973|PMID:24137399|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31959133|PMID:32008151|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32123317|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32420470|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32719484|PMID:32772980|PMID:32806537|PMID:32812259|PMID:32856854|PMID:32866190|PMID:32885271|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33630411|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12810666|PMID:12815598|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16172191|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17545591|PMID:17550235|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20437199|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21461827|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096355|PMID:23110154|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24082139 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32571788|PMID:32599251|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34749799|PMID:35300142|PMID:35535697|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32571788|PMID:32599251|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34749799|PMID:34981296|PMID:35053526|PMID:35300142|PMID:35535697|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12947551|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22461402|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30979843|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32050665|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34063308|PMID:34072659|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34453642|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35281878 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:35300142|PMID:35402282|PMID:35535697|PMID:35659930|PMID:35681111|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12947551|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22461402|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30979843|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35980532|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12894890|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12947551|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21270786|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21716271|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22461402|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23698643|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25974703|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27381626|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27981572|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29614442 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30979843|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35980532|PMID:36385762|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11941481|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12894890|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12947551|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19329713|PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22461402|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27381626|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30979843|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35864222|PMID:35875314|PMID:35980532|PMID:36171434|PMID:36329109|PMID:36385762|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:69132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22048643 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:24845084|PMID:24884479|PMID:24916970|PMID:24961674|PMID:25007954|PMID:25041116|PMID:2504116|PMID:25085752|PMID:25256238|PMID:25337278|PMID:25366075|PMID:25400221|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25480878|PMID:25525159|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25741868|PMID:25748678|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25880076|PMID:25896959|PMID:25939603|PMID:26010302|PMID:26026974|PMID:26028024|PMID:26083025|PMID:26183948|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26332594|PMID:26344711|PMID:26402875|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26656232|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26779294|PMID:26780556|PMID:26824983|PMID:26843898|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26911350|PMID:27062684|PMID:27081505|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27257965|PMID:27272900|PMID:27300552|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27553291|PMID:27658390|PMID:27683183|PMID:27741520|PMID:27836010|PMID:27907908|PMID:27914478|PMID:27978560|PMID:28024868|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28199346|PMID:28222693|PMID:28263838|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28492532|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28781887|PMID:28828701|PMID:28831036|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29088781|PMID:29116469|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29263802|PMID:29280214|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360550|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29566657|PMID:29681614|PMID:29687286|PMID:29752822|PMID:29770616|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29907814|PMID:29998185|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30111351|PMID:30128899|PMID:30152102|PMID:30209399|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30415210|PMID:30458859|PMID:30535581|PMID:30555256|PMID:30606148|PMID:30630528|PMID:30702160|PMID:30720863|PMID:30725392|PMID:30765603|PMID:30787465|PMID:30840646|PMID:30972954|PMID:30982232|PMID:31065452|PMID:31131967|PMID:31248605|PMID:31263571|PMID:31294896|PMID:31360874|PMID:31464824|PMID:31477031|PMID:31742824|PMID:3175448|PMID:31815095|PMID:31825140|PMID:31867841|PMID:32068069|PMID:32295079|PMID:32380732|PMID:32467295|PMID:33413596|PMID:33471991|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7257965|PMID:7493024|PMID:7581445|PMID:7627958|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8531968|PMID:8554067|PMID:8595420|PMID:8644703|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8933332|PMID:8968102|PMID:9042909|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9197534|PMID:9361038|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9544766|PMID:9609997|PMID:9663595|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:23364291|PMID:23397983|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23555315|PMID:23633455|PMID:23683081|PMID:23704879|PMID:23704984|PMID:23767878|PMID:23867111|PMID:23954390|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24131973|PMID:24218521|PMID:24249303|PMID:24312913|PMID:24319668|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24578176|PMID:24667779|PMID:24719479|PMID:24728327|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24884479|PMID:24916970|PMID:24961674|PMID:25007954|PMID:25041116|PMID:2504116|PMID:25085752|PMID:25256238|PMID:25337278|PMID:25366075|PMID:25400221|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25480878|PMID:25525159|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25741868|PMID:25748678|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25880076|PMID:25896959|PMID:25927356|PMID:25939603|PMID:25974703|PMID:25980754|PMID:26010302|PMID:26026974|PMID:26028024|PMID:26083025|PMID:26183948|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26332594|PMID:26344711|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26656232|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26779294|PMID:26780556|PMID:26824983|PMID:26843898|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26911350|PMID:27062684|PMID:27081505|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27257965|PMID:27272900|PMID:27300552|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27553291|PMID:27658390|PMID:27683183|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:27844240|PMID:27907908|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28199346|PMID:28222693|PMID:28263838|PMID:28285342|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28492532|PMID:28503720|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28781887|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28947987|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29088781|PMID:29116469|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29263802|PMID:29280214|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360550|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29687286|PMID:29752822|PMID:29770616|PMID:29785135|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30257991|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30489631|PMID:30535581|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30630528|PMID:30676620|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30832263|PMID:30840646|PMID:30875412|PMID:30972954|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31174498|PMID:31248605|PMID:31263571|PMID:31294896|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31447099|PMID:31454914|PMID:31464824|PMID:31477031|PMID:31528241|PMID:31742824|PMID:3175448|PMID:31815095|PMID:31825140|PMID:31851867|PMID:31867841|PMID:31908633|PMID:31911673|PMID:31957001|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32380732|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32817299|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32894085|PMID:33087888|PMID:33087929 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:33151324|PMID:33413596|PMID:33442023|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33726785|PMID:34981296|PMID:35402282|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7257965|PMID:7493024|PMID:7581445|PMID:7627958|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8531967|PMID:8531968|PMID:8554067|PMID:8595420|PMID:8644703|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8933332|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9197534|PMID:9361038|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9544766|PMID:9609997|PMID:9634504|PMID:9663595|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:10090881|PMID:10227398|PMID:10340909|PMID:10389907|PMID:10447273|PMID:10464624|PMID:10480351|PMID:10486320|PMID:10635334|PMID:10728699|PMID:10737987|PMID:10739756|PMID:10788334|PMID:10811118|PMID:10882858|PMID:10885601|PMID:10918303|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11278247|PMID:11320250|PMID:11389159|PMID:11466700|PMID:11506493|PMID:11526114|PMID:11573085|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11802208|PMID:11802209|PMID:11857748|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11956590|PMID:12068003|PMID:12070551|PMID:12125210|PMID:12142080|PMID:12181777|PMID:12183412|PMID:12204006|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12442274|PMID:12491487|PMID:12491499|PMID:12496477|PMID:12531920|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12698193|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12810666|PMID:12827452|PMID:12915465|PMID:12938098|PMID:12955716|PMID:14517958|PMID:14531499|PMID:14534301|PMID:14576432|PMID:14576434|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15235020|PMID:15290653|PMID:15340362|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15515971|PMID:15569676|PMID:15689452|PMID:15726418|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15923272|PMID:15951956|PMID:15994883|PMID:16014699|PMID:16030099|PMID:16030426|PMID:16168118|PMID:16199547|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16455195|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16541315|PMID:16616110|PMID:16644204|PMID:16683254|PMID:16758124|PMID:16760288|PMID:16998791|PMID:17080309|PMID:17221156|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17453335|PMID:17591842|PMID:17591843|PMID:17645508|PMID:17680524|PMID:17719744|PMID:17851763|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17972177|PMID:17990525|PMID:18006916|PMID:18036263|PMID:18159056|PMID:18176857|PMID:18215206|PMID:18273839|PMID:18284688|PMID:18375895|PMID:18415037|PMID:18431501|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18627636|PMID:18680205|PMID:18694767|PMID:18703817|PMID:18762988|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18936166|PMID:18940477|PMID:19016756|PMID:19098453|PMID:19200354|PMID:19208665|PMID:19287957|PMID:19359128|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19491284|PMID:19504351|PMID:19543972|PMID:19563646|PMID:19594371|PMID:19619314|PMID:19638463|PMID:19770520|PMID:19949876|PMID:19996028|PMID:20103620|PMID:20104584|PMID:20167696|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20215541|PMID:20301425|PMID:20345474|PMID:20378548|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20614009|PMID:20683152|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21119707|PMID:21120943|PMID:21147198|PMID:21203900|PMID:21218378|PMID:21232165|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21503673|PMID:21520273|PMID:2152385|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21702907|PMID:21709188|PMID:21725363|PMID:21769658|PMID:21834074|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22399190|PMID:22430266|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22516946|PMID:22535016|PMID:22652532|PMID:22666503|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22776961|PMID:22798144|PMID:22843421|PMID:22875147|PMID:22923021|PMID:22970155|PMID:23064986|PMID:23161852|PMID:23175448|PMID:23199084|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23289006|PMID:23364291 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:23397983|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23555315|PMID:23633455|PMID:23683081|PMID:23704879|PMID:23704984|PMID:23767878|PMID:23867111|PMID:23954390|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24131973|PMID:24218521|PMID:24249303|PMID:24312913|PMID:24319668|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24578176|PMID:24667779|PMID:24719479|PMID:24728327|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24884479|PMID:24916970|PMID:24961674|PMID:25007954|PMID:25041116|PMID:2504116|PMID:25085752|PMID:25256238|PMID:25337278|PMID:25366075|PMID:25400221|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25480878|PMID:25525159|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25741868|PMID:25748678|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25880076|PMID:25896959|PMID:25927356|PMID:25939603|PMID:25980754|PMID:26010302|PMID:26026974|PMID:26028024|PMID:26083025|PMID:26183948|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26332594|PMID:26344711|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26656232|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26779294|PMID:26780556|PMID:26824983|PMID:26843898|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26911350|PMID:27062684|PMID:27081505|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27257965|PMID:27272900|PMID:27300552|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27553291|PMID:27658390|PMID:27683183|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:27844240|PMID:27907908|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28199346|PMID:28222693|PMID:28263838|PMID:28285342|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28492532|PMID:28503720|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28781887|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28947987|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29088781|PMID:29116469|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29263802|PMID:29280214|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360550|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29687286|PMID:29752822|PMID:29770616|PMID:29785135|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30257991|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30489631|PMID:30535581|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30630528|PMID:30676620|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30832263|PMID:30840646|PMID:30875412|PMID:30972954|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31174498|PMID:31214711|PMID:31248605|PMID:31263571|PMID:31294896|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31447099|PMID:31454914|PMID:31464824|PMID:31477031|PMID:31528241|PMID:31742824|PMID:3175448|PMID:31815095|PMID:31825140|PMID:31851867|PMID:31867841|PMID:31908633|PMID:31911673|PMID:31957001|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32380732|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32817299|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32894085|PMID:33087888|PMID:33087929|PMID:33151324 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:33413596|PMID:33442023|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33726785|PMID:34301763|PMID:34981296|PMID:35402282|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7257965|PMID:7493024|PMID:7581445|PMID:7627958|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8531967|PMID:8531968|PMID:8554067|PMID:8595420|PMID:8644703|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8933332|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9197534|PMID:9361038|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9544766|PMID:9609997|PMID:9634504|PMID:9663595|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10447273|PMID:10464624|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10508480|PMID:10528853|PMID:10571952|PMID:10595255|PMID:10615237|PMID:10634513|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10686936|PMID:10699917|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10874312|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10951344|PMID:10980541|PMID:10984458|PMID:11030417|PMID:11039575|PMID:11044644|PMID:11102986|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11250694|PMID:11251181|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11802208|PMID:11802209|PMID:11844822|PMID:11873550|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11938448|PMID:11956590|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12125210|PMID:12142080|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12442274|PMID:12442275|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12810666|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12894890|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12938098|PMID:12947551|PMID:12955716|PMID:12960223|PMID:14517958|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14576434|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14732925|PMID:14757871|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15591272|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15744044|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16084575|PMID:16103107|PMID:16140926|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16485136|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16541315|PMID:16544996|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16715518|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16764716|PMID:16772120|PMID:16786532|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17221156|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17493881|PMID:17513806|PMID:17557253|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591843|PMID:17645508|PMID:17646271|PMID:17719744|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18060491|PMID:18060494|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18334730|PMID:18375895|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18546071|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18936166|PMID:18940477|PMID:18951446|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19276368|PMID:19287957|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19370767|PMID:19404736|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19543972|PMID:19563646|PMID:19594371|PMID:19619314|PMID:19638463|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19770520|PMID:19805903|PMID:19818148|PMID:19863560|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20215541|PMID:20232141|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20526115|PMID:20569256|PMID:20614009|PMID:20616022|PMID:20638108|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20730485|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21348412|PMID:21356067|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21614564|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21720365|PMID:21725363|PMID:2173504|PMID:21735045|PMID:21769658|PMID:21834074|PMID:21859355|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22044689|PMID:2206311|PMID:22078348|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22469508|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22848303|PMID:22889855|PMID:22923021|PMID:22970155|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:23341105|PMID:23348723|PMID:23374397|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23767878|PMID:23772696|PMID:23867111|PMID:23884708|PMID:23893897|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24131973|PMID:24212087|PMID:24218521|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24326041|PMID:24333842|PMID:24372583|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24797986|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:24961674|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:25066507|PMID:25085752|PMID:25186627|PMID:25236687|PMID:25256238|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25371446|PMID:25400221|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25480878|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25716084|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25880076|PMID:25896959|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26075997|PMID:26083025|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26332594|PMID:26334176|PMID:26350514|PMID:26402875|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26778126|PMID:26779294|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083775|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27167707|PMID:27208206|PMID:27257965|PMID:27272900|PMID:27300552|PMID:27328445|PMID:27376475|PMID:27381626|PMID:27383479|PMID:27393621|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27658390|PMID:27683183|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27831900|PMID:27836010|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28414925|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28588830|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28831036|PMID:28873162|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28985766|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29088781|PMID:29093764|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29470806 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:29478780|PMID:29486991|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30040829|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30214756|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30489631|PMID:30535581|PMID:30555256|PMID:30564348|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30927251|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31248605|PMID:31263571|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31341520|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31447071|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31565484|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31742824|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31957001|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32195105|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32803532|PMID:32817299|PMID:32832836|PMID:32854451|PMID:32862574|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33067490|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33151324|PMID:33206196|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33442023|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33875706|PMID:33888336|PMID:34026625|PMID:34072659|PMID:34196900|PMID:34290354|PMID:34657373|PMID:34749799|PMID:34981296|PMID:35300142|PMID:35402282|PMID:35464868|PMID:36988593|PMID:7493024|PMID:7606717|PMID:7611277|PMID:7663517|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8606385|PMID:8644702|PMID:8644703|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8875986|PMID:8933332|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9333265|PMID:9361038|PMID:9391879|PMID:9440731|PMID:9452076|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9536098|PMID:9544766|PMID:9585599|PMID:9609997|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9667259|PMID:9677103|PMID:9699640|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9836472 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9256 colorectal cancer ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:30209399 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9256 colorectal cancer disease_progression ISO RGD:69132 D RGD:9068941 20210430 RGD PMID:16533773|REF_RGD_ID:126790575 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9256 colorectal cancer onset ISO RGD:69132 D RGD:9068941 20210521 RGD PMID:20862552|REF_RGD_ID:126925961 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9261 nasopharynx carcinoma ISO RGD:69132 D RGD:9068941 20210604 RGD DNA:nonsense mutation: :p.Q563* (human) PMID:28857155|REF_RGD_ID:127229936 12124452 BRCA1 BRCA1 DNA repair associated gene DOID:9460 uterine corpus cancer ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:10811118|PMID:11157798|PMID:11739404|PMID:12400015|PMID:15024741|PMID:16267036|PMID:20104584|PMID:21203900|PMID:21922593|PMID:24504028|PMID:25741868|PMID:26467025|PMID:27469594|PMID:28492532|PMID:29446198|PMID:29681614|PMID:30209399|PMID:7894493|PMID:8807330|PMID:9667259 12124498 BDNF brain derived neurotrophic factor gene DOID:0050742 nicotine dependence ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20418890 12124498 BDNF brain derived neurotrophic factor gene DOID:0050848 obstructive sleep apnea ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:16061712|REF_RGD_ID:4891119 12124498 BDNF brain derived neurotrophic factor gene DOID:0060001 withdrawal disorder ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12574402 12124498 BDNF brain derived neurotrophic factor gene DOID:0060041 autism spectrum disorder ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 12124498 BDNF brain derived neurotrophic factor gene DOID:0060041 autism spectrum disorder ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:21984201|REF_RGD_ID:12801412 12124498 BDNF brain derived neurotrophic factor gene DOID:0060180 colitis ISO RGD:10235 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion: PMID:19932037|REF_RGD_ID:8657331 12124498 BDNF brain derived neurotrophic factor gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:731027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital central hypoventilation PMID:11840487|PMID:25741868|PMID:28492532 12124498 BDNF brain derived neurotrophic factor gene DOID:0080855 Parkinsonism treatment ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:16018990|REF_RGD_ID:8657066 12124498 BDNF brain derived neurotrophic factor gene DOID:10003 sensorineural hearing loss ISO RGD:10235 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:inferior colliculus: PMID:20598895|REF_RGD_ID:8655560 12124498 BDNF brain derived neurotrophic factor gene DOID:10126 keratoconus ISO RGD:731027 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:corneal epithelium, anterior stroma of cornea: PMID:23489213|REF_RGD_ID:8655632 12124498 BDNF brain derived neurotrophic factor gene DOID:1059 intellectual disability ISO RGD:731027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12124498 BDNF brain derived neurotrophic factor gene DOID:10652 Alzheimer's disease ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:20646587|REF_RGD_ID:4891131 12124498 BDNF brain derived neurotrophic factor gene DOID:10652 Alzheimer's disease ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17344400 12124498 BDNF brain derived neurotrophic factor gene DOID:10652 Alzheimer's disease ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes: :196G>A (p.V66M), 270C>T, 11757G>C (human) PMID:23215636|REF_RGD_ID:10059345 12124498 BDNF brain derived neurotrophic factor gene DOID:10652 Alzheimer's disease ISO RGD:731027 D RGD:9068941 20200609 RGD protein:decreased expression:parietal cortex PMID:12654514|REF_RGD_ID:10058980 12124498 BDNF brain derived neurotrophic factor gene DOID:10652 Alzheimer's disease no_association ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V66M (human) PMID:16627933|REF_RGD_ID:10059343 12124498 BDNF brain derived neurotrophic factor gene DOID:10652 Alzheimer's disease no_association ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human) PMID:16565926|REF_RGD_ID:10059346 12124498 BDNF brain derived neurotrophic factor gene DOID:10652 Alzheimer's disease onset ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:SNP:CDS:rs1048218 (human) PMID:18780967|REF_RGD_ID:5508228 12124498 BDNF brain derived neurotrophic factor gene DOID:10652 Alzheimer's disease treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24877042|REF_RGD_ID:10059402 12124498 BDNF brain derived neurotrophic factor gene DOID:1070 primary open angle glaucoma ISO RGD:731027 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:21076359|REF_RGD_ID:8655612 12124498 BDNF brain derived neurotrophic factor gene DOID:10914 amnestic disorder treatment ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:25061594|REF_RGD_ID:10059361 12124498 BDNF brain derived neurotrophic factor gene DOID:10933 obsessive-compulsive disorder ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:12836135|REF_RGD_ID:734644 12124498 BDNF brain derived neurotrophic factor gene DOID:1094 attention deficit hyperactivity disorder treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:25061595|REF_RGD_ID:10059388 12124498 BDNF brain derived neurotrophic factor gene DOID:11446 sciatic neuropathy ISO RGD:2202 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion: PMID:22309829|REF_RGD_ID:8657100 12124498 BDNF brain derived neurotrophic factor gene DOID:11446 sciatic neuropathy treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24388817|REF_RGD_ID:10059363 12124498 BDNF brain derived neurotrophic factor gene DOID:11981 morbid obesity ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21708048 12124498 BDNF brain derived neurotrophic factor gene DOID:12689 acoustic neuroma ISO RGD:731027 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral nerve: PMID:19937367|REF_RGD_ID:8655552 12124498 BDNF brain derived neurotrophic factor gene DOID:12849 autistic disorder ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17349978|PMID:20662941 12124498 BDNF brain derived neurotrophic factor gene DOID:12858 Huntington's disease ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:19499586|REF_RGD_ID:10059353 12124498 BDNF brain derived neurotrophic factor gene DOID:12858 Huntington's disease ISO RGD:731027 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cerebral cortex PMID:18093249|REF_RGD_ID:10058981 12124498 BDNF brain derived neurotrophic factor gene DOID:12858 Huntington's disease treatment ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:17885687|REF_RGD_ID:10415531 12124498 BDNF brain derived neurotrophic factor gene DOID:12894 Sjogren's syndrome severity ISO RGD:731027 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:18830907|REF_RGD_ID:8657019 12124498 BDNF brain derived neurotrophic factor gene DOID:13399 color blindness susceptibility ISO RGD:731027 D RGD:9068941 20200609 RGD associated with Alcoholism;DNA:polymorphism:cds:p.V66M(rs6265)(human) PMID:21640793|REF_RGD_ID:8655850 12124498 BDNF brain derived neurotrophic factor gene DOID:13406 pulmonary sarcoidosis ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:16315781|REF_RGD_ID:4891110 12124498 BDNF brain derived neurotrophic factor gene DOID:13544 low tension glaucoma ISO RGD:731027 D RGD:9068941 20200609 RGD protein:increased expression:tear: PMID:19861219|REF_RGD_ID:8655604 12124498 BDNF brain derived neurotrophic factor gene DOID:14330 Parkinson's disease ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 12124498 BDNF brain derived neurotrophic factor gene DOID:14330 Parkinson's disease ISO RGD:731027 D RGD:9068941 20200609 RGD protein:decreased expression:substantia nigra pars compacta: PMID:10208589|REF_RGD_ID:8657025 12124498 BDNF brain derived neurotrophic factor gene DOID:14330 Parkinson's disease no_association ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human) PMID:16565926|REF_RGD_ID:10059346 12124498 BDNF brain derived neurotrophic factor gene DOID:1459 hypothyroidism ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:20600205|REF_RGD_ID:4891132 12124498 BDNF brain derived neurotrophic factor gene DOID:1470 major depressive disorder ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:21803060|REF_RGD_ID:8655887 12124498 BDNF brain derived neurotrophic factor gene DOID:1555 urticaria ISO RGD:731027 D RGD:9068941 20200609 RGD protein:increased expression:serum,skin: PMID:21676041|REF_RGD_ID:8657027 12124498 BDNF brain derived neurotrophic factor gene DOID:1561 cognitive disorder ISO RGD:731027 D RGD:9068941 20200609 RGD associated with WAGR Syndrome;DNA:haploinsufficiency: : PMID:23517654|REF_RGD_ID:8655893 12124498 BDNF brain derived neurotrophic factor gene DOID:1574 alcohol use disorder ISO RGD:2202 D RGD:9068941 20200716 RGD protein:decreased expression:plasma PMID:32135570|REF_RGD_ID:35673317 12124498 BDNF brain derived neurotrophic factor gene DOID:1596 depressive disorder ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:22097208|REF_RGD_ID:5684923 12124498 BDNF brain derived neurotrophic factor gene DOID:1596 depressive disorder ISO RGD:2202 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:20920483|REF_RGD_ID:4891127 12124498 BDNF brain derived neurotrophic factor gene DOID:1596 depressive disorder ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16330021|PMID:21945287 12124498 BDNF brain derived neurotrophic factor gene DOID:1596 depressive disorder ISO RGD:731027 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lymphocyte, platelet PMID:20227453|REF_RGD_ID:4891139 12124498 BDNF brain derived neurotrophic factor gene DOID:1596 depressive disorder treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24128869|REF_RGD_ID:10059357 12124498 BDNF brain derived neurotrophic factor gene DOID:1679 cystitis ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:20079809|PMID:9631447|REF_RGD_ID:5684910|REF_RGD_ID:8657090 12124498 BDNF brain derived neurotrophic factor gene DOID:1686 glaucoma ISO RGD:2202 D RGD:9068941 20200609 RGD protein:decreased expression:eye: PMID:10711692|REF_RGD_ID:8655608 12124498 BDNF brain derived neurotrophic factor gene DOID:1686 glaucoma treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:21498611|REF_RGD_ID:8655886 12124498 BDNF brain derived neurotrophic factor gene DOID:1686 glaucoma treatment ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:19422885|REF_RGD_ID:8655601 12124498 BDNF brain derived neurotrophic factor gene DOID:1824 status epilepticus ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:19366663|PMID:19686240|REF_RGD_ID:4891125|REF_RGD_ID:5684912 12124498 BDNF brain derived neurotrophic factor gene DOID:1824 status epilepticus ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635431|PMID:8821376 12124498 BDNF brain derived neurotrophic factor gene DOID:1824 status epilepticus ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:19686240|REF_RGD_ID:5684912 12124498 BDNF brain derived neurotrophic factor gene DOID:1826 epilepsy ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15282290 12124498 BDNF brain derived neurotrophic factor gene DOID:2030 anxiety disorder treatment ISO RGD:2202 D RGD:9068941 20220210 RGD PMID:25283985|REF_RGD_ID:151356735 12124498 BDNF brain derived neurotrophic factor gene DOID:2055 post-traumatic stress disorder susceptibility ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:196G>A (p.V66M) (human) PMID:23319005|REF_RGD_ID:10059367 12124498 BDNF brain derived neurotrophic factor gene DOID:2316 brain ischemia ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19922383 12124498 BDNF brain derived neurotrophic factor gene DOID:2377 multiple sclerosis onset ISO RGD:731027 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:20656764|REF_RGD_ID:5684915 12124498 BDNF brain derived neurotrophic factor gene DOID:2468 psychotic disorder ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12124498 BDNF brain derived neurotrophic factor gene DOID:2841 asthma ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:11737043|REF_RGD_ID:4891123 12124498 BDNF brain derived neurotrophic factor gene DOID:2841 asthma ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.V66M, -270C>T (human) PMID:17584309|REF_RGD_ID:4891067 12124498 BDNF brain derived neurotrophic factor gene DOID:2841 asthma ISO RGD:731027 D RGD:9068941 20200609 RGD protein:decreased expression:blood, eosinophil PMID:12752594|REF_RGD_ID:4891122 12124498 BDNF brain derived neurotrophic factor gene DOID:2841 asthma severity ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.V66M (rs6265) (human) PMID:19895626|REF_RGD_ID:4891117 12124498 BDNF brain derived neurotrophic factor gene DOID:2841 asthma severity ISO RGD:731027 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20874832|REF_RGD_ID:4891063 12124498 BDNF brain derived neurotrophic factor gene DOID:2841 asthma susceptibility ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:SNP,haplotypes: :rs10767664,rs12273539,rs962369(human) PMID:21723144|REF_RGD_ID:8655967 12124498 BDNF brain derived neurotrophic factor gene DOID:2952 inner ear disease ISO RGD:8807547 D RGD:9068941 20200609 RGD PMID:10536212|REF_RGD_ID:11556223 12124498 BDNF brain derived neurotrophic factor gene DOID:3082 interstitial lung disease ISO RGD:731027 D RGD:9068941 20200609 RGD associated with Sjogren's Syndrome;protein:decreased expression:serum: PMID:24691584|REF_RGD_ID:8657022 12124498 BDNF brain derived neurotrophic factor gene DOID:3310 atopic dermatitis ISO RGD:731027 D RGD:9068941 20200609 RGD mRNA:decreased expression:mast cell PMID:17845420|REF_RGD_ID:8657065 12124498 BDNF brain derived neurotrophic factor gene DOID:3310 atopic dermatitis ISO RGD:731027 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:17073871|REF_RGD_ID:8657069 12124498 BDNF brain derived neurotrophic factor gene DOID:3310 atopic dermatitis no_association ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.V66M(human) PMID:19038326|REF_RGD_ID:8657067 12124498 BDNF brain derived neurotrophic factor gene DOID:3310 atopic dermatitis susceptibility ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:polymorphism::C270T(human) PMID:19522715|REF_RGD_ID:8657028 12124498 BDNF brain derived neurotrophic factor gene DOID:3312 bipolar disorder ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030|PMID:19018715 12124498 BDNF brain derived neurotrophic factor gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:20417695|REF_RGD_ID:4891138 12124498 BDNF brain derived neurotrophic factor gene DOID:3770 pulmonary fibrosis ISO RGD:731027 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:12917229|REF_RGD_ID:4891121 12124498 BDNF brain derived neurotrophic factor gene DOID:418 systemic scleroderma ISO RGD:731027 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:21085492|REF_RGD_ID:5144060 12124498 BDNF brain derived neurotrophic factor gene DOID:4483 rhinitis ISO RGD:2202 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:20464992|REF_RGD_ID:4891116 12124498 BDNF brain derived neurotrophic factor gene DOID:4483 rhinitis susceptibility ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:SNP,haplotypes: :rs10767664,rs12273539,rs962369(human) PMID:21723144|REF_RGD_ID:8655967 12124498 BDNF brain derived neurotrophic factor gene DOID:5419 schizophrenia ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12951204|PMID:14708030|PMID:17442489|PMID:18408624 12124498 BDNF brain derived neurotrophic factor gene DOID:630 genetic disease ISO RGD:731027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24048383|PMID:27699937 12124498 BDNF brain derived neurotrophic factor gene DOID:670 amphetamine abuse ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20736000 12124498 BDNF brain derived neurotrophic factor gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023256 12124498 BDNF brain derived neurotrophic factor gene DOID:8466 retinal degeneration ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:12764104|PMID:17525224|REF_RGD_ID:8655627|REF_RGD_ID:8655860 12124498 BDNF brain derived neurotrophic factor gene DOID:8466 retinal degeneration treatment ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:16123443|REF_RGD_ID:8655588 12124498 BDNF brain derived neurotrophic factor gene DOID:8466 retinal degeneration treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:12454046|REF_RGD_ID:8655652 12124498 BDNF brain derived neurotrophic factor gene DOID:863 nervous system disease ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22240983 12124498 BDNF brain derived neurotrophic factor gene DOID:8725 vascular dementia treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24622829|REF_RGD_ID:10059369 12124498 BDNF brain derived neurotrophic factor gene DOID:8805 intermediate coronary syndrome ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:16186425|REF_RGD_ID:4891111 12124498 BDNF brain derived neurotrophic factor gene DOID:8947 diabetic retinopathy ISO RGD:2202 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:retina: PMID:15331553|REF_RGD_ID:8655657 12124498 BDNF brain derived neurotrophic factor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:19203225|REF_RGD_ID:4891066 12124498 BDNF brain derived neurotrophic factor gene DOID:9000039 Spinal Cord Injuries ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:16022868|REF_RGD_ID:4891112 12124498 BDNF brain derived neurotrophic factor gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24551172|REF_RGD_ID:10059354 12124498 BDNF brain derived neurotrophic factor gene DOID:9000111 Radiation Injuries treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24333433|REF_RGD_ID:10059359 12124498 BDNF brain derived neurotrophic factor gene DOID:9000217 Stomach Neoplasms ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12124498 BDNF brain derived neurotrophic factor gene DOID:9000307 Presbycusis ISO RGD:2202 D RGD:9068941 20200609 RGD mRNA:decreased expression:cochlea PMID:17168119|REF_RGD_ID:8655551 12124498 BDNF brain derived neurotrophic factor gene DOID:9000641 Pain ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:20452292|REF_RGD_ID:4891137 12124498 BDNF brain derived neurotrophic factor gene DOID:9000998 Brain Injuries ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:20544832|REF_RGD_ID:4891136 12124498 BDNF brain derived neurotrophic factor gene DOID:9000998 Brain Injuries ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:20544832|REF_RGD_ID:4891136 12124498 BDNF brain derived neurotrophic factor gene DOID:9000998 Brain Injuries ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15500971|PMID:21269288 12124498 BDNF brain derived neurotrophic factor gene DOID:9000998 Brain Injuries ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:20544832|REF_RGD_ID:4891136 12124498 BDNF brain derived neurotrophic factor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:10235 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal dorsal horn: PMID:23466809|REF_RGD_ID:8657102 12124498 BDNF brain derived neurotrophic factor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2202 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:fourth lumbar dorsal root ganglion: PMID:11425916|REF_RGD_ID:8657088 12124498 BDNF brain derived neurotrophic factor gene DOID:9001310 Tobacco Use Disorder ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17186223 12124498 BDNF brain derived neurotrophic factor gene DOID:9001472 Nasal Polyps ISO RGD:731027 D RGD:9068941 20200609 RGD associated with Sinusitis;protein:decreased expression:respiratory system mucosa PMID:19958603|REF_RGD_ID:4891064 12124498 BDNF brain derived neurotrophic factor gene DOID:9001725 Retina Reperfusion Injury ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:10549664|REF_RGD_ID:8655861 12124498 BDNF brain derived neurotrophic factor gene DOID:9001733 Tinnitus ISO RGD:2202 D RGD:9068941 20200609 RGD mRNA:increased expression:cochlea: PMID:18524887|REF_RGD_ID:8655535 12124498 BDNF brain derived neurotrophic factor gene DOID:9001733 Tinnitus severity ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:22281446|REF_RGD_ID:8655556 12124498 BDNF brain derived neurotrophic factor gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:polymorphisms: :196G>A (p.V66M), 11757G>C (human) PMID:22596272|REF_RGD_ID:10059351 12124498 BDNF brain derived neurotrophic factor gene DOID:9002031 Frontotemporal Lobar Degeneration no_association ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:SNP: :rs2049045 (human) PMID:22596272|REF_RGD_ID:10059351 12124498 BDNF brain derived neurotrophic factor gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24361987|REF_RGD_ID:10059358 12124498 BDNF brain derived neurotrophic factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:20557422|REF_RGD_ID:4891134 12124498 BDNF brain derived neurotrophic factor gene DOID:9002211 Hyperalgesia ISO RGD:10235 D RGD:9068941 20200609 RGD associated with Peripheral Nerve Injuries; PMID:12435470|REF_RGD_ID:8657101 12124498 BDNF brain derived neurotrophic factor gene DOID:9002211 Hyperalgesia ISO RGD:10235 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy; PMID:12470870|REF_RGD_ID:8657091 12124498 BDNF brain derived neurotrophic factor gene DOID:9002211 Hyperalgesia ISO RGD:2202 D RGD:9068941 20200609 RGD associated with Pancreatitis, Chronic; PMID:21499209|REF_RGD_ID:8657093 12124498 BDNF brain derived neurotrophic factor gene DOID:9002211 Hyperalgesia ISO RGD:2202 D RGD:9068941 20200609 RGD associated with Peripheral Nerve Injuries; PMID:11425916|REF_RGD_ID:8657088 12124498 BDNF brain derived neurotrophic factor gene DOID:9002211 Hyperalgesia ISO RGD:2202 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy; PMID:10779676|REF_RGD_ID:8657114 12124498 BDNF brain derived neurotrophic factor gene DOID:9002211 Hyperalgesia ISO RGD:2202 D RGD:9068941 20200609 RGD associated with inflammation;protein:increased expression:dorsal root ganglion: PMID:21958434|REF_RGD_ID:8657122 12124498 BDNF brain derived neurotrophic factor gene DOID:9002211 Hyperalgesia ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:21864655|REF_RGD_ID:8657099 12124498 BDNF brain derived neurotrophic factor gene DOID:9002669 Hypoxia ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16553631 12124498 BDNF brain derived neurotrophic factor gene DOID:9002676 Cerebral Hemorrhage ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:20818776|REF_RGD_ID:4891129 12124498 BDNF brain derived neurotrophic factor gene DOID:9002704 Leukoencephalopathies treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24322053|REF_RGD_ID:10045369 12124498 BDNF brain derived neurotrophic factor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:23212569|REF_RGD_ID:10059360 12124498 BDNF brain derived neurotrophic factor gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:22723694|REF_RGD_ID:8655575 12124498 BDNF brain derived neurotrophic factor gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:10235 D RGD:9068941 20200609 RGD protein:increased expression:cochlea: PMID:19925854|REF_RGD_ID:8636263 12124498 BDNF brain derived neurotrophic factor gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:17275194|REF_RGD_ID:8655559 12124498 BDNF brain derived neurotrophic factor gene DOID:9002955 Nerve Degeneration ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:18313855|REF_RGD_ID:10059347 12124498 BDNF brain derived neurotrophic factor gene DOID:9002955 Nerve Degeneration ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15372491|PMID:19457078|PMID:19686240|PMID:8921280|PMID:8978711 12124498 BDNF brain derived neurotrophic factor gene DOID:9003740 Nerve Injuries ISO RGD:2202 D RGD:9068941 20200609 RGD mRNA:increased expression:geniculate ganglion: PMID:19848245|REF_RGD_ID:8655574 12124498 BDNF brain derived neurotrophic factor gene DOID:9003740 Nerve Injuries ISO RGD:2202 D RGD:9068941 20200609 RGD protein:increased expression:mylonhyoid nerve: PMID:23190308|REF_RGD_ID:8657332 12124498 BDNF brain derived neurotrophic factor gene DOID:9004009 Reperfusion Injury ISO RGD:2202 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:20554625|REF_RGD_ID:4891135 12124498 BDNF brain derived neurotrophic factor gene DOID:9004538 Hearing Loss ISO RGD:2202 D RGD:9068941 20200609 RGD mRNA:increased expression:cochlea: PMID:18524887|REF_RGD_ID:8655535 12124498 BDNF brain derived neurotrophic factor gene DOID:9004659 Respiration Disorders ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:8757249|REF_RGD_ID:8655536 12124498 BDNF brain derived neurotrophic factor gene DOID:9004866 Ataxia ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:9712667|REF_RGD_ID:8632994 12124498 BDNF brain derived neurotrophic factor gene DOID:9004964 Referred Pain ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:23313710|REF_RGD_ID:8655857 12124498 BDNF brain derived neurotrophic factor gene DOID:9005236 Drug Eruptions ISO RGD:10235 D RGD:9068941 20200609 RGD mRNA:increased expression:lymph node, ear: PMID:19904815|REF_RGD_ID:8657071 12124498 BDNF brain derived neurotrophic factor gene DOID:9005372 Inflammation ISO RGD:10235 D RGD:9068941 20200609 RGD protein:increased expression: trigeminal V ganglion PMID:20223282|REF_RGD_ID:4891140 12124498 BDNF brain derived neurotrophic factor gene DOID:9005372 Inflammation ISO RGD:2202 D RGD:9068941 20200609 RGD protein:increased expression: trigeminal V ganglion PMID:20223282|REF_RGD_ID:4891140 12124498 BDNF brain derived neurotrophic factor gene DOID:9005372 Inflammation ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21087489 12124498 BDNF brain derived neurotrophic factor gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14973246|PMID:17618281|PMID:17651427|PMID:18311559|PMID:19321768|PMID:20711185|PMID:20810894 12124498 BDNF brain derived neurotrophic factor gene DOID:9005632 Cocaine-Related Disorders severity ISO RGD:2202 D RGD:9068941 20210416 RGD PMID:23583595|REF_RGD_ID:38501054 12124498 BDNF brain derived neurotrophic factor gene DOID:9005632 Cocaine-Related Disorders susceptibility ISO RGD:2202 D RGD:9068941 20200814 RGD PMID:23583595|REF_RGD_ID:38501054 12124498 BDNF brain derived neurotrophic factor gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24857910|REF_RGD_ID:10059399 12124498 BDNF brain derived neurotrophic factor gene DOID:9005832 Amyloid Plaques ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:15014117|REF_RGD_ID:10059349 12124498 BDNF brain derived neurotrophic factor gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:2202 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion: PMID:14615047|REF_RGD_ID:8657329 12124498 BDNF brain derived neurotrophic factor gene DOID:9006646 Metabolic Syndrome ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:11935372|REF_RGD_ID:1580935 12124498 BDNF brain derived neurotrophic factor gene DOID:9007402 Gliosis ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21087489 12124498 BDNF brain derived neurotrophic factor gene DOID:9007480 Hyperoxia ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:15821016|REF_RGD_ID:4891113 12124498 BDNF brain derived neurotrophic factor gene DOID:9007633 Body Weight ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219|PMID:22344221 12124498 BDNF brain derived neurotrophic factor gene DOID:9007980 Sleep Deprivation treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:25450575|REF_RGD_ID:10059355 12124498 BDNF brain derived neurotrophic factor gene DOID:9008023 Memory Disorders ISO RGD:731027 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Memory impairment, susceptibility to PMID:12140781|PMID:12161822|PMID:12553913|PMID:12836135|PMID:12888803|PMID:15115760|PMID:15337662|PMID:16152572|PMID:16172806|PMID:16222333|PMID:16344533|PMID:16389585|PMID:20075215|PMID:24033266|PMID:25741868|PMID:28492532 12124498 BDNF brain derived neurotrophic factor gene DOID:9008091 Optic Nerve Injuries ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:9520478|REF_RGD_ID:8655637 12124498 BDNF brain derived neurotrophic factor gene DOID:9008091 Optic Nerve Injuries ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:11050383|REF_RGD_ID:8655586 12124498 BDNF brain derived neurotrophic factor gene DOID:9008091 Optic Nerve Injuries treatment ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:15140649|REF_RGD_ID:8655584 12124498 BDNF brain derived neurotrophic factor gene DOID:9008103 Seasonal Allergic Rhinitis severity ISO RGD:731027 D RGD:9068941 20200609 RGD protein:increased expression:blood, nasal cavity epithelium PMID:18266897|REF_RGD_ID:5144117 12124498 BDNF brain derived neurotrophic factor gene DOID:9008520 Chronic Pain ISO RGD:2202 D RGD:9068941 20200609 RGD mRNA:decreased expression:anterior cingulate cortex PMID:24518228|REF_RGD_ID:10059366 12124498 BDNF brain derived neurotrophic factor gene DOID:9008520 Chronic Pain ISO RGD:2202 D RGD:9068941 20200609 RGD protein:increased expression:frontal cortex, neuron PMID:11360665|REF_RGD_ID:5684922 12124498 BDNF brain derived neurotrophic factor gene DOID:9008680 Respiratory Tract Infections ISO RGD:731027 D RGD:9068941 20200609 RGD protein:decreased expression:platelet, serum PMID:17317133|REF_RGD_ID:4891069 12124498 BDNF brain derived neurotrophic factor gene DOID:9008681 Deafness ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18607918|PMID:19365690 12124498 BDNF brain derived neurotrophic factor gene DOID:9008681 Deafness treatment ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:23150788|REF_RGD_ID:8655576 12124498 BDNF brain derived neurotrophic factor gene DOID:9008681 Deafness treatment ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:21452221|REF_RGD_ID:8639313 12124498 BDNF brain derived neurotrophic factor gene DOID:9008820 Visceral Pain ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:21997550|REF_RGD_ID:8655978 12124498 BDNF brain derived neurotrophic factor gene DOID:9008820 Visceral Pain ISO RGD:10235 D RGD:9068941 20200609 RGD associated with Colitis; protein:increased expression:dorsal root ganglion: PMID:19932037|REF_RGD_ID:8657331 12124498 BDNF brain derived neurotrophic factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:731027 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:17151862|REF_RGD_ID:10059350 12124498 BDNF brain derived neurotrophic factor gene DOID:9427 hypertensive encephalopathy treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24730417|REF_RGD_ID:10059400 12124498 BDNF brain derived neurotrophic factor gene DOID:9470 bacterial meningitis ISO RGD:10235 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus PMID:16141791|REF_RGD_ID:5684920 12124498 BDNF brain derived neurotrophic factor gene DOID:9470 bacterial meningitis ISO RGD:2202 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus,cerebral cortex: PMID:22683802|REF_RGD_ID:8655554 12124498 BDNF brain derived neurotrophic factor gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:731027 D RGD:9068941 20200609 RGD protein:decreased expression:photoreceptor outer segment layer: PMID:18405896|REF_RGD_ID:8655629 12124498 BDNF brain derived neurotrophic factor gene DOID:9743 diabetic neuropathy ISO RGD:2202 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:20557422|REF_RGD_ID:4891134 12124498 BDNF brain derived neurotrophic factor gene DOID:9778 irritable bowel syndrome ISO RGD:731027 D RGD:9068941 20200609 RGD protein:increased expression:colonic mucosa,intestinal intestine: PMID:21997550|REF_RGD_ID:8655978 12124498 BDNF brain derived neurotrophic factor gene DOID:987 alopecia ISO RGD:731027 D RGD:9068941 20200609 RGD protein:increased expression:dermal papilla: PMID:21729031|REF_RGD_ID:8657081 12124498 BDNF brain derived neurotrophic factor gene DOID:9970 obesity ISO RGD:731027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Obesity PMID:11840487|PMID:25741868|PMID:28492532 12124498 BDNF brain derived neurotrophic factor gene DOID:9976 heroin dependence ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17715210 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:0080207 CAKUT2 treatment ISO RGD:1347215 D RGD:9068941 20200609 RGD PMID:27448803|REF_RGD_ID:13204792 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:0080600 COVID-19 ISO RGD:1347215 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347215 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:10588 adrenoleukodystrophy severity ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:23185624|REF_RGD_ID:13204814 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:10591 pre-eclampsia ISO RGD:1347215 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:placenta PMID:17083831|REF_RGD_ID:2290399 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:10763 hypertension ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21051829 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:10763 hypertension ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus PMID:19506087|REF_RGD_ID:2312464 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:10763 hypertension ISO RGD:621675 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:17977875|REF_RGD_ID:2290351 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:10808 gastric ulcer ISO RGD:621675 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach PMID:15375341|REF_RGD_ID:10043177 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:10941 intracranial aneurysm ISO RGD:621675 D RGD:9068941 20200609 RGD PMID:17569872|REF_RGD_ID:2290352 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:114 heart disease ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23558518 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:114 heart disease ISO RGD:621675 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:heart PMID:19134282|REF_RGD_ID:2312465 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:12849 autistic disorder ISO RGD:1347215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:13378 Kawasaki disease ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:12626459|REF_RGD_ID:1580170 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:13580 cholestasis ISO RGD:621675 D RGD:9068941 20200609 RGD PMID:8707259|REF_RGD_ID:2290364 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:14250 Down syndrome ISO RGD:1347215 D RGD:9068941 20200609 RGD PMID:24519975|REF_RGD_ID:13204810 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:1485 cystic fibrosis ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:25545245|REF_RGD_ID:13204794 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:1612 breast cancer disease_progression ISO RGD:1347215 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:breast PMID:17114213|PMID:17478562|REF_RGD_ID:2290345|REF_RGD_ID:2290348 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:1612 breast cancer disease_progression ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18172859|REF_RGD_ID:2290343 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:178 vascular disease ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569694 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:178 vascular disease ISO RGD:621675 D RGD:9068941 20200609 RGD PMID:17569694|REF_RGD_ID:2290353 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:182 calcinosis ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:1936 atherosclerosis ameliorates ISO RGD:731433 D RGD:9068941 20230330 RGD PMID:31757932|REF_RGD_ID:242905202 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:2006 preretinal fibrosis ISO RGD:1347215 D RGD:9068941 20200609 RGD PMID:11004090|REF_RGD_ID:2312481 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:2378 relapsing-remitting multiple sclerosis treatment ISO RGD:1347215 D RGD:9068941 20200609 RGD PMID:16412833|REF_RGD_ID:13204825 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17695443|REF_RGD_ID:2298520 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16901349|REF_RGD_ID:2290349 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:12487935|REF_RGD_ID:2298523 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:621675 D RGD:9068941 20200609 RGD PMID:25842729|REF_RGD_ID:13207319 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21468558 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:621675 D RGD:9068941 20200609 RGD PMID:23318412|REF_RGD_ID:13204970 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:4079 heart valve disease ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:417 autoimmune disease ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:11595703|REF_RGD_ID:2290350 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:57 aortic valve insufficiency ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:5773 oral submucous fibrosis ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:6000 congestive heart failure ISO RGD:621675 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:10773234|REF_RGD_ID:2290467 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:630 genetic disease ISO RGD:1347215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:799 varicose veins ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17643059 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:893 Wilson disease ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26241054 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:90 degenerative disc disease treatment ISO RGD:621675 D RGD:9068941 20200609 RGD associated with Renal Insufficiency PMID:19063844|REF_RGD_ID:10043178 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1347215 D RGD:9068941 20200609 RGD associated with Endometrial Neoplasms;protein:increased expression:endometrium PMID:12487935|REF_RGD_ID:2298523 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347215 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:plasma PMID:17407159|REF_RGD_ID:2290346 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9000998 Brain Injuries ISO RGD:621675 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, astrocytes PMID:10719361|REF_RGD_ID:2290468 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16507762|PMID:16718785|PMID:16762003|PMID:21163135|PMID:25380136 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621675 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:8707259|REF_RGD_ID:2290364 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9001600 Wounds and Injuries ISO RGD:621675 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:dorsal root ganglion PMID:16683235|REF_RGD_ID:1600154 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9002739 Female Urogenital Diseases ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9002884 Emphysema treatment ISO RGD:621675 D RGD:9068941 20200609 RGD PMID:22633097|REF_RGD_ID:13207325 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1318976 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9005372 Inflammation ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569694 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21963884 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1347215 D RGD:9068941 20200609 RGD PMID:17192464|REF_RGD_ID:2312467 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621675 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17569353|REF_RGD_ID:2290354 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9006205 Animal Disease Models ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21051829 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9007096 Stroke ISO RGD:621675 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:9472898|REF_RGD_ID:2290356 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9007480 Hyperoxia ISO RGD:621675 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15128910|REF_RGD_ID:8547972 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:731433 D RGD:9068941 20200609 RGD PMID:24739303|REF_RGD_ID:13204791 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9351 diabetes mellitus ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus PMID:19506087|REF_RGD_ID:2312464 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023759 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16005367|REF_RGD_ID:1580148 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9446 cholangitis ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17020653|REF_RGD_ID:2312468 12124520 TIMP1 TIMP metallopeptidase inhibitor 1 gene DOID:9970 obesity ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17512313|REF_RGD_ID:1642026 12124530 MEIS1 Meis homeobox 1 gene DOID:0050425 restless legs syndrome ISO RGD:1315277 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17637780|PMID:28604731 12124530 MEIS1 Meis homeobox 1 gene DOID:114 heart disease ISO RGD:1315277 D RGD:9068941 20221027 RGD mRNA, protein:decreased expression:heart (human) PMID:26597775|REF_RGD_ID:11554891 12124530 MEIS1 Meis homeobox 1 gene DOID:630 genetic disease ISO RGD:1315277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124530 MEIS1 Meis homeobox 1 gene DOID:9003936 Cardiomegaly ISO RGD:1550525 D RGD:9068941 20221027 RGD mRNA, protein:decreased expression:heart (mouse) PMID:26597775|REF_RGD_ID:11554891 12124530 MEIS1 Meis homeobox 1 gene DOID:9004576 Sleep Initiation and Maintenance Disorders ISO RGD:1315277 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28604731 12124530 MEIS1 Meis homeobox 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1315277 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19776672 12124546 PSIP1 PC4 and SFRS1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1350264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124546 PSIP1 PC4 and SFRS1 interacting protein 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1350264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12124571 STK31 serine/threonine kinase 31 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12124571 STK31 serine/threonine kinase 31 gene DOID:630 genetic disease ISO RGD:1606534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124610 EXOC3 exocyst complex component 3 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1344149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 12124610 EXOC3 exocyst complex component 3 gene DOID:630 genetic disease ISO RGD:1344149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124610 EXOC3 exocyst complex component 3 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1344149 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 12124627 CWF19L2 CWF19 like cell cycle control factor 2 gene DOID:1059 intellectual disability ISO RGD:1320784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12124627 CWF19L2 CWF19 like cell cycle control factor 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1320784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12124627 CWF19L2 CWF19 like cell cycle control factor 2 gene DOID:630 genetic disease ISO RGD:1320784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124627 CWF19L2 CWF19 like cell cycle control factor 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12124652 FOCAD focadhesin gene DOID:5082 liver cirrhosis ISO RGD:1352316 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35864190 12124652 FOCAD focadhesin gene DOID:5419 schizophrenia ISO RGD:1352316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12124652 FOCAD focadhesin gene DOID:630 genetic disease ISO RGD:1352316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124652 FOCAD focadhesin gene DOID:9005712 Severe Congenital Liver Disease ISO RGD:1352316 D RGD:7240710 20220831 OMIM 12124652 FOCAD focadhesin gene DOID:9005712 Severe Congenital Liver Disease ISO RGD:1352316 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Liver disease, severe congenital PMID:35864190 12124705 ALDH1B1 aldehyde dehydrogenase 1 family member B1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1315525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29718361 12124705 ALDH1B1 aldehyde dehydrogenase 1 family member B1 gene DOID:13580 cholestasis ISO RGD:1315525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12124705 ALDH1B1 aldehyde dehydrogenase 1 family member B1 gene DOID:630 genetic disease ISO RGD:1315525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124705 ALDH1B1 aldehyde dehydrogenase 1 family member B1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15650968|PMID:25380136 12124705 ALDH1B1 aldehyde dehydrogenase 1 family member B1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1315525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25641190 12124705 ALDH1B1 aldehyde dehydrogenase 1 family member B1 gene DOID:9005369 Hepatomegaly ISO RGD:1315525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12124719 PDSS2 decaprenyl diphosphate synthase subunit 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1353926 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 12124719 PDSS2 decaprenyl diphosphate synthase subunit 2 gene DOID:0050730 coenzyme Q10 deficiency disease ISO RGD:1353926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary 12124719 PDSS2 decaprenyl diphosphate synthase subunit 2 gene DOID:0070240 primary coenzyme Q10 deficiency 3 ISO RGD:1353926 D RGD:7240710 20180130 OMIM 12124719 PDSS2 decaprenyl diphosphate synthase subunit 2 gene DOID:0070240 primary coenzyme Q10 deficiency 3 ISO RGD:1353926 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 3 PMID:17186472|PMID:17374725|PMID:19096106|PMID:20495179|PMID:20689595|PMID:23816342|PMID:25349199|PMID:25741868|PMID:28492532|PMID:29127259 12124719 PDSS2 decaprenyl diphosphate synthase subunit 2 gene DOID:1184 nephrotic syndrome ISO RGD:1353926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:17186472|PMID:17374725|PMID:19096106|PMID:20689595|PMID:23816342|PMID:25349199|PMID:25741868|PMID:28492532|PMID:29127259 12124719 PDSS2 decaprenyl diphosphate synthase subunit 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1353926 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868|PMID:28492532 12124719 PDSS2 decaprenyl diphosphate synthase subunit 2 gene DOID:557 kidney disease ISO RGD:1353926 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 12124719 PDSS2 decaprenyl diphosphate synthase subunit 2 gene DOID:630 genetic disease ISO RGD:1353926 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12124719 PDSS2 decaprenyl diphosphate synthase subunit 2 gene DOID:9001753 Hypomyelinating Leukodystrophy 24 ISO RGD:1353926 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 24 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12124747 CDH19 cadherin 19 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1316200 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12124747 CDH19 cadherin 19 gene DOID:630 genetic disease ISO RGD:1316200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124747 CDH19 cadherin 19 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12124774 EMP3 epithelial membrane protein 3 gene DOID:630 genetic disease ISO RGD:731841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124774 EMP3 epithelial membrane protein 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15583422 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:0050685 small cell carcinoma ISO RGD:1343424 D RGD:9068941 20201203 CTD CTD Direct Evidence: marker/mechanism PMID:17549345 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:0050742 nicotine dependence ISO RGD:1343424 D RGD:9068941 20201203 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11259349|PMID:20418888 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:0080665 warfarin resistance ISO RGD:1343424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coumarin resistance PMID:10093988|PMID:10217419|PMID:11281276|PMID:12325023|PMID:2322567|PMID:7668294|PMID:9409631|PMID:9655391|PMID:9827545 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:0080666 warfarin sensitivity ISO RGD:1343424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Warfarin sensitivity PMID:10093988|PMID:10217419|PMID:11281276|PMID:12325023|PMID:2322567|PMID:7668294|PMID:9409631|PMID:9655391|PMID:9827545 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:1324 lung cancer ISO RGD:1343424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer, protection against PMID:10217419|PMID:10441482 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1343424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1343424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:13768 opisthorchiasis ISO RGD:1343424 D RGD:9068941 20201203 CTD CTD Direct Evidence: marker/mechanism PMID:8896890 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:1883 hepatitis C ISO RGD:1343424 D RGD:9068941 20201203 CTD CTD Direct Evidence: marker/mechanism PMID:8864187 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:2043 hepatitis B ISO RGD:1343424 D RGD:9068941 20201127 CTD CTD Direct Evidence: marker/mechanism PMID:8864187 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:2340 craniosynostosis ISO RGD:1343424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:299 adenocarcinoma ISO RGD:1343424 D RGD:9068941 20201127 CTD CTD Direct Evidence: marker/mechanism PMID:12115524 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1343424 D RGD:9068941 20201127 CTD CTD Direct Evidence: marker/mechanism PMID:11241319 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:4552 large cell carcinoma ISO RGD:1343424 D RGD:9068941 20201127 CTD CTD Direct Evidence: marker/mechanism PMID:17549345 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:630 genetic disease ISO RGD:1343424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:9000185 Coumarin Sensitivity ISO RGD:1343424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COUMARIN SENSITIVITY PMID:10093988|PMID:10217419|PMID:11281276|PMID:12325023|PMID:2322567|PMID:7668294|PMID:9409631|PMID:9655391|PMID:9827545 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:9000217 Stomach Neoplasms ISO RGD:1343424 D RGD:9068941 20201127 CTD CTD Direct Evidence: marker/mechanism PMID:12115524|PMID:21364592 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:9000918 Disease Progression ISO RGD:1343424 D RGD:9068941 20201203 CTD CTD Direct Evidence: marker/mechanism PMID:21364592 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1343424 D RGD:9068941 20201203 CTD CTD Direct Evidence: marker/mechanism PMID:15564629|PMID:16720336|PMID:22569203|PMID:26644138|PMID:28472521 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343424 D RGD:9068941 20201203 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1343424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:9003155 Parasitic Liver Diseases ISO RGD:1343424 D RGD:9068941 20201127 CTD CTD Direct Evidence: marker/mechanism PMID:8896890 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:9005172 Lung Neoplasms ISO RGD:1343424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CYP2A6*4A PMID:10217419|PMID:10441482 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:1343424 D RGD:9068941 20201127 CTD CTD Direct Evidence: marker/mechanism PMID:16377082 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1343424 D RGD:9068941 20201127 CTD CTD Direct Evidence: marker/mechanism PMID:21741958 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1343424 D RGD:9068941 20201203 CTD CTD Direct Evidence: marker/mechanism PMID:17683511 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:9269 maple syrup urine disease ISO RGD:1343424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:936 brain disease ISO RGD:1343424 D RGD:9068941 20201127 CTD CTD Direct Evidence: marker/mechanism PMID:22498344 12124799 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 gene DOID:9675 pulmonary emphysema ISO RGD:1343424 D RGD:9068941 20201203 CTD CTD Direct Evidence: marker/mechanism PMID:12832682 12124813 RASSF10 Ras association domain family member 10 gene DOID:1059 intellectual disability ISO RGD:2290196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12124813 RASSF10 Ras association domain family member 10 gene DOID:630 genetic disease ISO RGD:2290196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124818 SETDB2 SET domain bifurcated histone lysine methyltransferase 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1321179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12124818 SETDB2 SET domain bifurcated histone lysine methyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1321179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12124818 SETDB2 SET domain bifurcated histone lysine methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1321179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124860 NR1D2 nuclear receptor subfamily 1 group D member 2 gene DOID:0050651 atrioventricular septal defect ISO RGD:737421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect PMID:27058611 12124860 NR1D2 nuclear receptor subfamily 1 group D member 2 gene DOID:289 endometriosis ISO RGD:737421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12124860 NR1D2 nuclear receptor subfamily 1 group D member 2 gene DOID:630 genetic disease ISO RGD:737421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124877 SLC19A2 solute carrier family 19 member 2 gene DOID:0090117 thiamine-responsive megaloblastic anemia syndrome ISO RGD:1318484 D RGD:7240710 20180130 OMIM 12124877 SLC19A2 solute carrier family 19 member 2 gene DOID:0090117 thiamine-responsive megaloblastic anemia syndrome ISO RGD:1318484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | ClinVar Annotator: match by term: Thiamine-responsive megaloblastic anemia PMID:10391221|PMID:10391222|PMID:10391223|PMID:10874303|PMID:10978358|PMID:12065289|PMID:12435857|PMID:14994241|PMID:17132746|PMID:17463047|PMID:18414213|PMID:19643445|PMID:24355766|PMID:25741868|PMID:26467025|PMID:28004468|PMID:28492532|PMID:29450569|PMID:33649974|PMID:33816400|PMID:9399900 12124877 SLC19A2 solute carrier family 19 member 2 gene DOID:13382 megaloblastic anemia ISO RGD:1318484 D RGD:9068941 20200609 RGD PMID:10391221|REF_RGD_ID:1599325 12124877 SLC19A2 solute carrier family 19 member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1318484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12124877 SLC19A2 solute carrier family 19 member 2 gene DOID:630 genetic disease ISO RGD:1318484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12124877 SLC19A2 solute carrier family 19 member 2 gene DOID:784 chronic kidney disease ISO RGD:1308611 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver, heart (rat) PMID:21149507|REF_RGD_ID:7327184 12124877 SLC19A2 solute carrier family 19 member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318484 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12124877 SLC19A2 solute carrier family 19 member 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1318484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12124877 SLC19A2 solute carrier family 19 member 2 gene DOID:9008681 Deafness ISO RGD:1318484 D RGD:9068941 20200609 RGD PMID:10391221|REF_RGD_ID:1599325 12124877 SLC19A2 solute carrier family 19 member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12124877 SLC19A2 solute carrier family 19 member 2 gene DOID:9351 diabetes mellitus ISO RGD:1318484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 12124887 OSBPL7 oxysterol binding protein like 7 gene DOID:0070347 encephalopathy due to defective mitochondrial and peroxisomal fission 1 ISO RGD:1319316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 PMID:25741868 12124887 OSBPL7 oxysterol binding protein like 7 gene DOID:4947 cholangiocarcinoma ISO RGD:1319316 D RGD:9068941 20210129 RGD mRNA:increased expression:blood PMID:21763455|REF_RGD_ID:41404644 12124887 OSBPL7 oxysterol binding protein like 7 gene DOID:630 genetic disease ISO RGD:1319316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124922 LCN6 lipocalin 6 gene DOID:0050777 Joubert syndrome ISO RGD:1349815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12124922 LCN6 lipocalin 6 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1349815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12124922 LCN6 lipocalin 6 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1349815 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12124922 LCN6 lipocalin 6 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1349815 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12124922 LCN6 lipocalin 6 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1349815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12124922 LCN6 lipocalin 6 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1349815 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12124922 LCN6 lipocalin 6 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1349815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12124922 LCN6 lipocalin 6 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1349815 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12124922 LCN6 lipocalin 6 gene DOID:0081097 Rafiq syndrome ISO RGD:1349815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12124922 LCN6 lipocalin 6 gene DOID:3652 Leigh disease ISO RGD:1349815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12124922 LCN6 lipocalin 6 gene DOID:630 genetic disease ISO RGD:1349815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124922 LCN6 lipocalin 6 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1349815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12124931 TRIM7 tripartite motif containing 7 gene DOID:0080600 COVID-19 ISO RGD:1316458 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12124931 TRIM7 tripartite motif containing 7 gene DOID:630 genetic disease ISO RGD:1316458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124953 PLPP1 phospholipid phosphatase 1 gene DOID:630 genetic disease ISO RGD:1344834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124953 PLPP1 phospholipid phosphatase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12124953 PLPP1 phospholipid phosphatase 1 gene DOID:9000918 Disease Progression ISO RGD:1344834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12124953 PLPP1 phospholipid phosphatase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12124979 C15H1orf216 chromosome 15 C1orf216 homolog gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1602984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12124979 C15H1orf216 chromosome 15 C1orf216 homolog gene DOID:630 genetic disease ISO RGD:1602984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124991 RASGRF2 Ras protein specific guanine nucleotide releasing factor 2 gene DOID:305 carcinoma ISO RGD:69460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 12124991 RASGRF2 Ras protein specific guanine nucleotide releasing factor 2 gene DOID:630 genetic disease ISO RGD:69460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12124991 RASGRF2 Ras protein specific guanine nucleotide releasing factor 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:69460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 12124991 RASGRF2 Ras protein specific guanine nucleotide releasing factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12124991 RASGRF2 Ras protein specific guanine nucleotide releasing factor 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 12125021 CCDC87 coiled-coil domain containing 87 gene DOID:1059 intellectual disability ISO RGD:1602481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12125021 CCDC87 coiled-coil domain containing 87 gene DOID:630 genetic disease ISO RGD:1602481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125021 CCDC87 coiled-coil domain containing 87 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1602481 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12125021 CCDC87 coiled-coil domain containing 87 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1602481 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12125026 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1318848 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:16199547|PMID:22522442|PMID:25274842|PMID:25741868|PMID:28492532|PMID:32376792 12125026 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1318848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12125026 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1318848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12125026 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0110160 Charcot-Marie-Tooth disease axonal type 2T ISO RGD:1318848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2T PMID:24088041|PMID:26633545 12125026 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 ISO RGD:1318848 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 PMID:22522442|PMID:25741868|PMID:26752306|PMID:27083531|PMID:28492532 12125026 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0111214 distal spinal muscular atrophy type 5 ISO RGD:1318848 D RGD:7240710 20180130 OMIM 12125026 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0111214 distal spinal muscular atrophy type 5 ISO RGD:1318848 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Young adult-onset distal hereditary motor neuropathy PMID:16199547|PMID:17576681|PMID:22522442|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25274842|PMID:25741868|PMID:26257172|PMID:26752306|PMID:27083531|PMID:27449489|PMID:28492532|PMID:32376792|PMID:9536098 12125026 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1318848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12125026 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1318848 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:22522442|PMID:24627108|PMID:25274842|PMID:25741868|PMID:26752306|PMID:27083531|PMID:28492532 12125026 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:1148 polydactyly ISO RGD:1318848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 12125026 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1318848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12125026 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:630 genetic disease ISO RGD:1318848 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:22522442|PMID:25274842|PMID:25741868|PMID:26752306|PMID:27083531|PMID:28492532|PMID:32376792 12125026 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12125055 MIR1-1 microRNA mir-1-1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346542 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12125055 MIR1-1 microRNA mir-1-1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1346542 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12125055 MIR1-1 microRNA mir-1-1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346542 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12125055 MIR1-1 microRNA mir-1-1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12125055 MIR1-1 microRNA mir-1-1 gene DOID:9005172 Lung Neoplasms ISO RGD:1615489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23761296 12125055 MIR1-1 microRNA mir-1-1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30125006 12125065 LOC102151692 antileukoproteinase-like gene DOID:2234 focal epilepsy ISO RGD:1349049 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12125065 LOC102151692 antileukoproteinase-like gene DOID:630 genetic disease ISO RGD:1349049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125065 LOC102151692 antileukoproteinase-like gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1349049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12125177 ANAPC10 anaphase promoting complex subunit 10 gene DOID:630 genetic disease ISO RGD:1318993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125216 LOC480492 lysozyme-like protein 6 gene DOID:630 genetic disease ISO RGD:1342780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125225 MCM9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:0070168 spermatogenic failure 3 ISO RGD:1313696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25480036|PMID:25741868|PMID:31042289 12125225 MCM9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:0080496 ovarian dysgenesis 4 ISO RGD:1313696 D RGD:7240710 20180130 OMIM 12125225 MCM9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:0080496 ovarian dysgenesis 4 ISO RGD:1313696 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: OVARIAN DYSGENESIS 4 PMID:25480036|PMID:25741868|PMID:26771056|PMID:28492532|PMID:31042289 12125225 MCM9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1313696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12125225 MCM9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:0080857 primary ovarian insufficiency 1 ISO RGD:1313696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 1 PMID:25480036|PMID:25741868|PMID:31042289 12125225 MCM9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:1059 intellectual disability ISO RGD:1313696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24824130 12125225 MCM9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:10907 microcephaly ISO RGD:1313696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 12125225 MCM9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:12849 autistic disorder ISO RGD:1313696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 12125225 MCM9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:1826 epilepsy ISO RGD:1313696 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12125225 MCM9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:5426 primary ovarian insufficiency ISO RGD:1313696 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fragile x premature ovarian failure | ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25480036|PMID:25741868|PMID:28492532|PMID:31042289 12125225 MCM9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:630 genetic disease ISO RGD:1313696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125225 MCM9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:684 hepatocellular carcinoma ISO RGD:1313697 D RGD:9068941 20220825 MouseDO OMIM:114550 12125225 MCM9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:9000495 Tremor ISO RGD:1313696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12125225 MCM9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:9005363 Primary Ovarian Insufficiency, Fragile X-Associated ISO RGD:1313696 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Primary ovarian insufficiency, fragile X-associated PMID:25480036|PMID:25741868|PMID:31042289 12125243 SDR39U1 short chain dehydrogenase/reductase family 39U member 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1319586 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12125243 SDR39U1 short chain dehydrogenase/reductase family 39U member 1 gene DOID:630 genetic disease ISO RGD:1319586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125243 SDR39U1 short chain dehydrogenase/reductase family 39U member 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1319586 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12125243 SDR39U1 short chain dehydrogenase/reductase family 39U member 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319586 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12125284 CIAO1 cytosolic iron-sulfur assembly component 1 gene DOID:1059 intellectual disability ISO RGD:1354495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12125284 CIAO1 cytosolic iron-sulfur assembly component 1 gene DOID:5419 schizophrenia ISO RGD:1354495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12125284 CIAO1 cytosolic iron-sulfur assembly component 1 gene DOID:630 genetic disease ISO RGD:1354495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125295 PAIP2B poly(A) binding protein interacting protein 2B gene DOID:543 dystonia ISO RGD:1605487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12125295 PAIP2B poly(A) binding protein interacting protein 2B gene DOID:630 genetic disease ISO RGD:1605487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125295 PAIP2B poly(A) binding protein interacting protein 2B gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1605487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12125313 AKAP3 A-kinase anchoring protein 3 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1348905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 12125313 AKAP3 A-kinase anchoring protein 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1348905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12125313 AKAP3 A-kinase anchoring protein 3 gene DOID:630 genetic disease ISO RGD:1348905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125313 AKAP3 A-kinase anchoring protein 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1348905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12125313 AKAP3 A-kinase anchoring protein 3 gene DOID:9008398 Spermatogenic Failure 82 ISO RGD:1348905 D RGD:7240710 20230505 OMIM 12125332 MMS19 MMS19 homolog, cytosolic iron-sulfur assembly component gene DOID:630 genetic disease ISO RGD:1354311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125378 NOSTRIN nitric oxide synthase trafficking gene DOID:630 genetic disease ISO RGD:1348478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125378 NOSTRIN nitric oxide synthase trafficking gene DOID:9007096 Stroke ISO RGD:727920 D RGD:9068941 20200609 RGD PMID:11489260|REF_RGD_ID:631971 12125415 HIBADH 3-hydroxyisobutyrate dehydrogenase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12125415 HIBADH 3-hydroxyisobutyrate dehydrogenase gene DOID:630 genetic disease ISO RGD:732658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125427 EEF2K eukaryotic elongation factor 2 kinase gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:1351780 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5 PMID:25741868 12125427 EEF2K eukaryotic elongation factor 2 kinase gene DOID:10652 Alzheimer's disease ISO RGD:1351780 D RGD:9068941 20200609 RGD PMID:16098202|REF_RGD_ID:10401651 12125427 EEF2K eukaryotic elongation factor 2 kinase gene DOID:12849 autistic disorder ISO RGD:1351780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12125427 EEF2K eukaryotic elongation factor 2 kinase gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1351780 D RGD:9068941 20220804 RGD Human cells in mouse model PMID:30522114|REF_RGD_ID:153298964 12125427 EEF2K eukaryotic elongation factor 2 kinase gene DOID:5419 schizophrenia ISO RGD:1351780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12125427 EEF2K eukaryotic elongation factor 2 kinase gene DOID:630 genetic disease ISO RGD:1351780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125475 CAPN2 calpain 2 gene DOID:0081292 traumatic brain injury ISO RGD:2268 D RGD:9068941 20200609 RGD PMID:9469158|REF_RGD_ID:13792664 12125475 CAPN2 calpain 2 gene DOID:10652 Alzheimer's disease ISO RGD:732800 D RGD:9068941 20200609 RGD protein:increased expression:cytosol PMID:9654354|REF_RGD_ID:13792661 12125475 CAPN2 calpain 2 gene DOID:11446 sciatic neuropathy ISO RGD:2268 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle tissue of tibialis anterior PMID:24745757|REF_RGD_ID:13792589 12125475 CAPN2 calpain 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2268 D RGD:9068941 20200609 RGD protein:increased expression, activity:nucleus PMID:25820375|REF_RGD_ID:13792650 12125475 CAPN2 calpain 2 gene DOID:1540 parathyroid carcinoma ISO RGD:732800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12125475 CAPN2 calpain 2 gene DOID:1561 cognitive disorder ISO RGD:732800 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31672664 12125475 CAPN2 calpain 2 gene DOID:630 genetic disease ISO RGD:732800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125475 CAPN2 calpain 2 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2268 D RGD:9068941 20200609 RGD PMID:25150005|REF_RGD_ID:13792585 12125475 CAPN2 calpain 2 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2268 D RGD:9068941 20200609 RGD associated with Peripheral Nerve Injuries PMID:25150005|REF_RGD_ID:13792585 12125475 CAPN2 calpain 2 gene DOID:9007659 Anthracycline-induced Cardiotoxicity treatment ISO RGD:2268 D RGD:9068941 20200609 RGD PMID:25634181|REF_RGD_ID:13792617 12125475 CAPN2 calpain 2 gene DOID:9119 acute myeloid leukemia ISO RGD:732800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12125475 CAPN2 calpain 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12125499 FBXO11 F-box protein 11 gene DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 ISO RGD:1348534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:19250818|PMID:24689082|PMID:25741868|PMID:26467025|PMID:28492532 12125499 FBXO11 F-box protein 11 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:1348534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 12125499 FBXO11 F-box protein 11 gene DOID:0112026 non-syndromic X-linked intellectual disability 99 ISO RGD:1348534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 PMID:25741868 12125499 FBXO11 F-box protein 11 gene DOID:10534 stomach cancer ISO RGD:1348534 D RGD:9068941 20220505 RGD protein:increased expression:stomach (human) PMID:31829474|REF_RGD_ID:152025261 12125499 FBXO11 F-box protein 11 gene DOID:10534 stomach cancer exacerbates ISO RGD:1348534 D RGD:9068941 20220505 RGD mRNA, protein:increased expression:stomach (human) PMID:29278851|REF_RGD_ID:152025260 12125499 FBXO11 F-box protein 11 gene DOID:1059 intellectual disability ISO RGD:1348534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12125499 FBXO11 F-box protein 11 gene DOID:10754 otitis media ISO RGD:1553509 D RGD:9068941 20220825 MouseDO OMIM:166760 12125499 FBXO11 F-box protein 11 gene DOID:2043 hepatitis B ISO RGD:1348534 D RGD:9068941 20220505 RGD associated with hepatocellular carcinoma;protein:increased expression:liver (human) PMID:29603830|REF_RGD_ID:152025266 12125499 FBXO11 F-box protein 11 gene DOID:3459 breast carcinoma ameliorates ISO RGD:1348534 D RGD:9068941 20220505 RGD human constructs and cell line in a mouse model PMID:25203322|REF_RGD_ID:152025262 12125499 FBXO11 F-box protein 11 gene DOID:3883 Lynch syndrome ISO RGD:1348534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18269114|PMID:19250818|PMID:24323032|PMID:24362816|PMID:24689082|PMID:25741868|PMID:26467025|PMID:27620904|PMID:28135145|PMID:28492532 12125499 FBXO11 F-box protein 11 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1348534 D RGD:9068941 20220505 RGD PMID:31778188|REF_RGD_ID:152025265 12125499 FBXO11 F-box protein 11 gene DOID:630 genetic disease ISO RGD:1348534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:24728327|PMID:25741868|PMID:28492532|PMID:28691247|PMID:30057029|PMID:9536098 12125499 FBXO11 F-box protein 11 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1348534 D RGD:9068941 20220505 RGD mRNA:increased expression:liver (human) PMID:32657545|REF_RGD_ID:152025263 12125499 FBXO11 F-box protein 11 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1348534 D RGD:9068941 20220505 RGD mRNA:increased expression:liver (human) PMID:29518611|REF_RGD_ID:152025259 12125499 FBXO11 F-box protein 11 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1348534 D RGD:9068941 20220505 RGD protein:increased expression:liver (human) PMID:29603830|REF_RGD_ID:152025266 12125499 FBXO11 F-box protein 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348534 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24728327|PMID:25741868|PMID:28492532|PMID:28691247|PMID:30057029 12125499 FBXO11 F-box protein 11 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1348534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:30057029 12125499 FBXO11 F-box protein 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:19250818|PMID:24689082|PMID:25741868|PMID:26467025|PMID:28492532 12125499 FBXO11 F-box protein 11 gene DOID:9008582 Developmental Disease ISO RGD:1348534 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28492532 12125499 FBXO11 F-box protein 11 gene DOID:9009213 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES ISO RGD:1348534 D RGD:7240710 20190315 OMIM 12125499 FBXO11 F-box protein 11 gene DOID:9009213 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES ISO RGD:1348534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities PMID:25741868|PMID:28492532|PMID:28691247|PMID:29796876|PMID:30057029|PMID:30679813|PMID:34505148 12125499 FBXO11 F-box protein 11 gene DOID:9970 obesity ISO RGD:1348534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity 12125525 TPM2 tropomyosin 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1605428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12125525 TPM2 tropomyosin 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1605428 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12125525 TPM2 tropomyosin 2 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1605428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:25741868 12125525 TPM2 tropomyosin 2 gene DOID:0080600 COVID-19 ISO RGD:1605428 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12125525 TPM2 tropomyosin 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:1605428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12125525 TPM2 tropomyosin 2 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1605428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:11738357|PMID:23757202|PMID:25741868|PMID:26467025|PMID:28492532 12125525 TPM2 tropomyosin 2 gene DOID:0110932 nemaline myopathy 4 ISO RGD:1605428 D RGD:7240710 20180130 OMIM 12125525 TPM2 tropomyosin 2 gene DOID:0110932 nemaline myopathy 4 ISO RGD:1605428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cap myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy 4 | ClinVar Annotator: match by term: TPM2-related cap myopathy PMID:11738357|PMID:17846275|PMID:18414213|PMID:18420702|PMID:18422639|PMID:18789687|PMID:19047562|PMID:20301436|PMID:22084935|PMID:22832343|PMID:23689010|PMID:23886664|PMID:24033266|PMID:24039757|PMID:24657080|PMID:24692096|PMID:25741868|PMID:25978979|PMID:26467025|PMID:26708479|PMID:27854218|PMID:28492532|PMID:30545627|PMID:31966463|PMID:33060286|PMID:34008892 12125525 TPM2 tropomyosin 2 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1605428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12125525 TPM2 tropomyosin 2 gene DOID:0111596 distal arthrogryposis type 1 ISO RGD:1605428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I PMID:19155175|PMID:27726070|PMID:28492532 12125525 TPM2 tropomyosin 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1605428 D RGD:7240710 20180130 OMIM 12125525 TPM2 tropomyosin 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1605428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:11738357|PMID:12592607|PMID:16199547|PMID:17194691|PMID:17339586|PMID:17576681|PMID:17846275|PMID:18414213|PMID:18420702|PMID:18422639|PMID:18789687|PMID:19047562|PMID:19155175|PMID:20301436|PMID:22084935|PMID:22749895|PMID:22832343|PMID:22980765|PMID:23401156|PMID:23678273|PMID:23689010|PMID:23757202|PMID:23886664|PMID:24033266|PMID:24039757|PMID:24214167|PMID:24657080|PMID:24692096|PMID:25741868|PMID:25978979|PMID:26467025|PMID:26708479|PMID:26752647|PMID:27726070|PMID:27854218|PMID:28492532|PMID:30545627|PMID:31966463|PMID:32092148|PMID:33060286|PMID:7977374|PMID:9536098 12125525 TPM2 tropomyosin 2 gene DOID:0111600 distal arthrogryposis type 2B1 ISO RGD:1605428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 PMID:25741868 12125525 TPM2 tropomyosin 2 gene DOID:3191 nemaline myopathy ISO RGD:1605428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Dominant PMID:11738357|PMID:23757202|PMID:25741868|PMID:26467025|PMID:28492532 12125525 TPM2 tropomyosin 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1605428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12125525 TPM2 tropomyosin 2 gene DOID:630 genetic disease ISO RGD:1605428 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12125525 TPM2 tropomyosin 2 gene DOID:9001483 Distal Arthrogryposis Type 2B4 ISO RGD:1605428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B4 PMID:17339586|PMID:23678273|PMID:24692096|PMID:25741868|PMID:27726070|PMID:28492532|PMID:30285720|PMID:32092148 12125525 TPM2 tropomyosin 2 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1605428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12125525 TPM2 tropomyosin 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12125525 TPM2 tropomyosin 2 gene DOID:9870 galactosemia ISO RGD:1605428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12125544 LRFN2 leucine rich repeat and fibronectin type III domain containing 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1323494 D RGD:9068941 20220825 MouseDO 12125544 LRFN2 leucine rich repeat and fibronectin type III domain containing 2 gene DOID:630 genetic disease ISO RGD:1323493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125552 PSCA prostate stem cell antigen gene DOID:0060071 pre-malignant neoplasm ISO RGD:1321185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28220687 12125552 PSCA prostate stem cell antigen gene DOID:11054 urinary bladder cancer ISO RGD:1321185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19648920|PMID:20083643 12125552 PSCA prostate stem cell antigen gene DOID:1724 duodenal ulcer ISO RGD:1321185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22387998 12125552 PSCA prostate stem cell antigen gene DOID:4023 linitis plastica ISO RGD:1321185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488030 12125552 PSCA prostate stem cell antigen gene DOID:630 genetic disease ISO RGD:1321185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125552 PSCA prostate stem cell antigen gene DOID:9000217 Stomach Neoplasms ISO RGD:1321185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488030|PMID:26098866 12125552 PSCA prostate stem cell antigen gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16015594 12125552 PSCA prostate stem cell antigen gene DOID:9008114 Helicobacter Infections ISO RGD:1321185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28220687 12125560 CNN1 calponin 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:731921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12125560 CNN1 calponin 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:731921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12125560 CNN1 calponin 1 gene DOID:0111254 glutaric acidemia I ISO RGD:731921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12125560 CNN1 calponin 1 gene DOID:3413 alpha-mannosidosis ISO RGD:731921 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12125560 CNN1 calponin 1 gene DOID:630 genetic disease ISO RGD:731921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125581 ENC1 ectodermal-neural cortex 1 gene DOID:630 genetic disease ISO RGD:1352868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125581 ENC1 ectodermal-neural cortex 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12125581 ENC1 ectodermal-neural cortex 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12125587 MAP3K6 mitogen-activated protein kinase kinase kinase 6 gene DOID:0080600 COVID-19 ISO RGD:1312170 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12125587 MAP3K6 mitogen-activated protein kinase kinase kinase 6 gene DOID:630 genetic disease ISO RGD:1312170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125620 INTS14 integrator complex subunit 14 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1604589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12125620 INTS14 integrator complex subunit 14 gene DOID:2717 Bloom syndrome ISO RGD:1604589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12125620 INTS14 integrator complex subunit 14 gene DOID:630 genetic disease ISO RGD:1604589 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125620 INTS14 integrator complex subunit 14 gene DOID:9256 colorectal cancer ISO RGD:1604589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12125643 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:10652 Alzheimer's disease ISO RGD:1343923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562|PMID:25741868 12125643 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:12800 mucopolysaccharidosis VI ISO RGD:735196 D RGD:9068941 20200609 RGD protein:increased expression:intervertebral disk PMID:23192728|REF_RGD_ID:10043113 12125643 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:5426 primary ovarian insufficiency ISO RGD:1343923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12125643 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:630 genetic disease ISO RGD:1343923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125643 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:7148 rheumatoid arthritis ISO RGD:1343923 D RGD:9068941 20200609 RGD protein:alternative form:synovium PMID:11801682|REF_RGD_ID:10043106 12125643 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:8398 osteoarthritis ISO RGD:1343923 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R614H (human) PMID:22961118|REF_RGD_ID:10043102 12125643 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:8398 osteoarthritis ISO RGD:1343923 D RGD:9068941 20200609 RGD protein:alternative form:synovium PMID:11801682|REF_RGD_ID:10043106 12125643 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:8398 osteoarthritis ISO RGD:1552871 D RGD:9068941 20200609 RGD PMID:23982761|REF_RGD_ID:10043101 12125643 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:8398 osteoarthritis ISO RGD:735196 D RGD:9068941 20200609 RGD mRNA:increased expression:cartilage PMID:17530714|REF_RGD_ID:2300093 12125643 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:8398 osteoarthritis disease_progression ISO RGD:1552871 D RGD:9068941 20200609 RGD PMID:23954517|REF_RGD_ID:10043107 12125643 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:8398 osteoarthritis no_association ISO RGD:1343923 D RGD:9068941 20200609 RGD DNA:missense mutations:exon: (rs226794, rs2830585) (human) PMID:18240210|REF_RGD_ID:10043105 12125643 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:8398 osteoarthritis treatment ISO RGD:1552871 D RGD:9068941 20200609 RGD PMID:22084394|REF_RGD_ID:10003165 12125643 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:8398 osteoarthritis treatment ISO RGD:1552871 D RGD:9068941 20200609 RGD associated with Bone Diseases, Metabolic PMID:22432033|REF_RGD_ID:10043110 12125643 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:8398 osteoarthritis treatment ISO RGD:735196 D RGD:9068941 20200609 RGD PMID:23546441|REF_RGD_ID:10043103 12125643 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:90 degenerative disc disease ISO RGD:735196 D RGD:9068941 20200609 RGD PMID:22394620|REF_RGD_ID:10043115 12125643 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:90 degenerative disc disease ISO RGD:735196 D RGD:9068941 20200609 RGD mRNA:increased expression:intervertebral disk of cervical vertebra PMID:20948465|REF_RGD_ID:8661231 12125643 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12125643 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:9005369 Hepatomegaly ISO RGD:1343923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12125643 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:735196 D RGD:9068941 20200609 RGD mRNA:increased expression:cartilage PMID:22670655|REF_RGD_ID:10043109 12125643 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:9006281 Temporomandibular Joint Disorders ISO RGD:1343923 D RGD:9068941 20200609 RGD PMID:18830934|REF_RGD_ID:10043108 12125643 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:9006281 Temporomandibular Joint Disorders severity ISO RGD:1552871 D RGD:9068941 20200609 RGD mRNA:increased expression:temporomandibular joint PMID:24316289|REF_RGD_ID:10043104 12125654 ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603321 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12125654 ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 gene DOID:630 genetic disease ISO RGD:1603321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125654 ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12125654 ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603321 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12125666 ELMO3 engulfment and cell motility 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1312348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12125666 ELMO3 engulfment and cell motility 3 gene DOID:630 genetic disease ISO RGD:1312348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125697 ZCWPW1 zinc finger CW-type and PWWP domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12125697 ZCWPW1 zinc finger CW-type and PWWP domain containing 1 gene DOID:630 genetic disease ISO RGD:1313418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125727 WIPI1 WD repeat domain, phosphoinositide interacting 1 gene DOID:0080074 neural tube defect ISO RGD:1605986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect 12125727 WIPI1 WD repeat domain, phosphoinositide interacting 1 gene DOID:13580 cholestasis ISO RGD:1605986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12125727 WIPI1 WD repeat domain, phosphoinositide interacting 1 gene DOID:630 genetic disease ISO RGD:1605986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125727 WIPI1 WD repeat domain, phosphoinositide interacting 1 gene DOID:9455 lipid storage disease ISO RGD:1605986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557 12125744 CEL carboxyl ester lipase gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:737498 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:25741868|PMID:32906201 12125744 CEL carboxyl ester lipase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:737498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12125744 CEL carboxyl ester lipase gene DOID:0080324 tuberous sclerosis 1 ISO RGD:737498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12125744 CEL carboxyl ester lipase gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:737498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12125744 CEL carboxyl ester lipase gene DOID:0081097 Rafiq syndrome ISO RGD:737498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12125744 CEL carboxyl ester lipase gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:737498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868 12125744 CEL carboxyl ester lipase gene DOID:0111105 maturity-onset diabetes of the young type 8 ISO RGD:737498 D RGD:7240710 20180130 OMIM 12125744 CEL carboxyl ester lipase gene DOID:0111105 maturity-onset diabetes of the young type 8 ISO RGD:737498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diabetes-pancreatic exocrine dysfunction syndrome | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 8 PMID:16369531|PMID:18414213|PMID:25741868|PMID:28492532|PMID:32906201 12125744 CEL carboxyl ester lipase gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:737498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12125744 CEL carboxyl ester lipase gene DOID:3153 lipomatosis ISO RGD:737498 D RGD:9068941 20200609 RGD associated with Prediabetic State; DNA:deletion:exon PMID:17259390|REF_RGD_ID:2313965 12125744 CEL carboxyl ester lipase gene DOID:3652 Leigh disease ISO RGD:737498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12125744 CEL carboxyl ester lipase gene DOID:630 genetic disease ISO RGD:737498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125744 CEL carboxyl ester lipase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2331 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas, PMID:8446851|REF_RGD_ID:2313971 12125744 CEL carboxyl ester lipase gene DOID:9006190 Chronic Pancreatitis ISO RGD:737498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25774637 12125744 CEL carboxyl ester lipase gene DOID:9351 diabetes mellitus ISO RGD:737498 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18414213|PMID:25741868|PMID:28492532|PMID:32906201 12125744 CEL carboxyl ester lipase gene DOID:9352 type 2 diabetes mellitus ISO RGD:737498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868 12125744 CEL carboxyl ester lipase gene DOID:9744 type 1 diabetes mellitus ISO RGD:737498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 1 PMID:18414213|PMID:25741868 12125759 CFTR CF transmembrane conductance regulator gene DOID:0050127 sinusitis ISO RGD:619566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16083808 12125759 CFTR CF transmembrane conductance regulator gene DOID:0050127 sinusitis susceptibility ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:11773581|REF_RGD_ID:4140477 12125759 CFTR CF transmembrane conductance regulator gene DOID:0060041 autism spectrum disorder ISO RGD:619566 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12125759 CFTR CF transmembrane conductance regulator gene DOID:0060643 primary sclerosing cholangitis susceptibility ISO RGD:619566 D RGD:9068941 20200609 RGD associated with inflammatory bowel disease; DNA:misense mutations:multiple PMID:12783301|REF_RGD_ID:25671445 12125759 CFTR CF transmembrane conductance regulator gene DOID:0070187 Y-linked spermatogenic failure 2 ISO RGD:619566 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, Y-linked, 2 PMID:11280952|PMID:12767731|PMID:1380943|PMID:15371902|PMID:15614862|PMID:1712898|PMID:18456578|PMID:19885835|PMID:1998343|PMID:20301428|PMID:20865572|PMID:21228398|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24440181|PMID:25326635|PMID:25489051|PMID:25741868|PMID:25799511|PMID:26075213|PMID:28492532|PMID:28603918 12125759 CFTR CF transmembrane conductance regulator gene DOID:0080216 duodenal atresia ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Duodenal stenosis PMID:10103316|PMID:10425036|PMID:10782933|PMID:10950058|PMID:10963013|PMID:11186891|PMID:11280952|PMID:11547256|PMID:11733566|PMID:11924117|PMID:12400067|PMID:1370875|PMID:1377276|PMID:1379413|PMID:1380673|PMID:1381146|PMID:1384321|PMID:14618962|PMID:15141088|PMID:15246977|PMID:1536179|PMID:15367919|PMID:15371902|PMID:15482777|PMID:15640323|PMID:15905293|PMID:16075239|PMID:16283887|PMID:16478680|PMID:1673094|PMID:17035430|PMID:17048214|PMID:1715308|PMID:17175965|PMID:17206681|PMID:1723032|PMID:1756602|PMID:17692578|PMID:18180206|PMID:18234567|PMID:18394117|PMID:18456578|PMID:18507830|PMID:18796364|PMID:19176844|PMID:19227414|PMID:19459534|PMID:19837664|PMID:19878303|PMID:19885835|PMID:19925455|PMID:1997384|PMID:20021716|PMID:20116881|PMID:20301295|PMID:20301428|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20667826|PMID:20687163|PMID:20696241|PMID:20705837|PMID:20977904|PMID:21097845|PMID:21111762|PMID:21152102|PMID:21228398|PMID:21411740|PMID:21486785|PMID:21520337|PMID:21594800|PMID:21907281|PMID:21965669|PMID:21976147|PMID:21983488|PMID:22020151|PMID:2210767|PMID:2220803|PMID:22332135|PMID:2233932|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22449949|PMID:22569626|PMID:22658665|PMID:22680785|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22999299|PMID:2300168|PMID:23067305|PMID:23104983|PMID:23168765|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23436935|PMID:23656801|PMID:23751316|PMID:23781395|PMID:2378364|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24375076|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24559724|PMID:24696795|PMID:24727426|PMID:2475911|PMID:24958810|PMID:24973281|PMID:25042876|PMID:25148434|PMID:25330774|PMID:25608981|PMID:25636364|PMID:25697321|PMID:2570460|PMID:25741868|PMID:25741869|PMID:25763566|PMID:25797027|PMID:25981758|PMID:26006199|PMID:26095523|PMID:26149808|PMID:26467025|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26648081|PMID:26800689|PMID:26911355|PMID:26976279|PMID:26989879|PMID:27171515|PMID:27298017|PMID:27334259|PMID:27469177|PMID:27577878|PMID:27660821|PMID:27673710|PMID:27738188|PMID:27805836|PMID:27898234|PMID:28129809|PMID:28325531|PMID:28492530|PMID:28492532|PMID:28603918|PMID:28606620|PMID:28617084|PMID:28930490|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29261177|PMID:29327948|PMID:29431110|PMID:29451946|PMID:29589582|PMID:29614238|PMID:29668297|PMID:29805046|PMID:29944384|PMID:30030066|PMID:30089726|PMID:30279124|PMID:30487145|PMID:30600599|PMID:30602999|PMID:30609409|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31310009|PMID:31447099|PMID:31523618|PMID:31589614|PMID:31788424|PMID:31980526|PMID:32429104|PMID:32761997|PMID:33083013|PMID:33118704|PMID:33144682|PMID:33270637|PMID:33365035|PMID:33713579|PMID:34426522|PMID:7517267|PMID:7533604|PMID:7537148|PMID:7540133|PMID:7560099|PMID:7691813|PMID:7789957|PMID:8092189|PMID:8659542|PMID:8740923|PMID:8844211|PMID:8886242|PMID:9135274|PMID:9235853|PMID:9272738|PMID:9439669|PMID:9493456|PMID:9618063 12125759 CFTR CF transmembrane conductance regulator gene DOID:0080526 bronchiectasis 1 ISO RGD:619566 D RGD:7240710 20180130 OMIM 12125759 CFTR CF transmembrane conductance regulator gene DOID:0080526 bronchiectasis 1 ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of | ClinVar Annotator: match by term: Hypertrypsinemia, neonatal, susceptibility to PMID:10103316|PMID:10200050|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10388469|PMID:10401194|PMID:10425036|PMID:10439967|PMID:10445602|PMID:10556281|PMID:10571949|PMID:10601093|PMID:10605524|PMID:10636451|PMID:10639207|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10782933|PMID:10794365|PMID:10798368|PMID:10801389|PMID:10819640|PMID:10834512|PMID:10836331|PMID:10869121|PMID:10875853|PMID:10878476|PMID:10909845|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10982968|PMID:11005149|PMID:11055897|PMID:11069835|PMID:11101688|PMID:11137998|PMID:11158459|PMID:11168024|PMID:11186891|PMID:11242048|PMID:11280952|PMID:11303517|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11427889|PMID:11448786|PMID:11466205|PMID:11484207|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11597353|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11796434|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11938439|PMID:12007216|PMID:12014388|PMID:12080183|PMID:12120234|PMID:12127423|PMID:12167682|PMID:12215837|PMID:12357328|PMID:12397022|PMID:12400067|PMID:12422349|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12544470|PMID:12578973|PMID:12624947|PMID:12719375|PMID:12732620|PMID:12767731|PMID:12815607|PMID:1283148|PMID:1284477|PMID:1284534|PMID:1284538|PMID:1284540|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12919146|PMID:12938099|PMID:12940920|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1373935|PMID:1376016|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1381146|PMID:1381442|PMID:1381723|PMID:1382316|PMID:1384321|PMID:1384328|PMID:14526128|PMID:14618962|PMID:14685937|PMID:14993601|PMID:14998948|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15097853|PMID:15126740|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15241793|PMID:15246977|PMID:15287992|PMID:15300780|PMID:15354332|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15463888|PMID:15463907|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15536480|PMID:15638824|PMID:15640323|PMID:15698945|PMID:15698946|PMID:15738290|PMID:15758663|PMID:15775704|PMID:15776432|PMID:15857421|PMID:15858154|PMID:15905293|PMID:15948195|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16132229|PMID:16134171|PMID:16189704|PMID:16199547|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16362824|PMID:16436643|PMID:16442101|PMID:16443646|PMID:16478680|PMID:16488363|PMID:16499810|PMID:16596947|PMID:16617247|PMID:1673094|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16801189|PMID:1682496|PMID:16840743|PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641|PMID:17015492|PMID:17035430|PMID:17048214|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1712898|PMID:1715308|PMID:1716180|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1723032|PMID:17235394|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17353351|PMID:17380060|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17516627|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17594397|PMID:17662673|PMID:17663888|PMID:17681820|PMID:17692578|PMID:17890437|PMID:17901983|PMID:17949679|PMID:18078365|PMID:18178635|PMID:18180206|PMID:18193900|PMID:18230692|PMID:18234567|PMID:18306312|PMID:18373402|PMID:18394117|PMID:18421494|PMID:18449561|PMID:18456578|PMID:18501000|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18639722|PMID:18685558|PMID:18687795|PMID:18703788|PMID:18716917|PMID:18778819|PMID:18796364|PMID:18951463|PMID:19092437|PMID:19176844|PMID:19181854|PMID:19202204|PMID:19227414|PMID:19265749|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19359498|PMID:1937486|PMID:19459534 12125759 CFTR CF transmembrane conductance regulator gene DOID:0080526 bronchiectasis 1 ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of | ClinVar Annotator: match by term: Hypertrypsinemia, neonatal, susceptibility to PMID:19491324|PMID:19550280|PMID:19625452|PMID:19652440|PMID:19734299|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19845690|PMID:19846789|PMID:19858235|PMID:19878303|PMID:19880712|PMID:19885835|PMID:19897426|PMID:19914431|PMID:19925455|PMID:1997384|PMID:1999830|PMID:20021716|PMID:20052365|PMID:20059485|PMID:20116881|PMID:20163773|PMID:20167849|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20381036|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20522854|PMID:20538955|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20651897|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20837875|PMID:20849526|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20977904|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21228398|PMID:2135388|PMID:21411740|PMID:21416780|PMID:21486785|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21594800|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:2220803|PMID:22293084|PMID:22299590|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22395041|PMID:22423042|PMID:22427236|PMID:22449949|PMID:22468138|PMID:22569626|PMID:22572128|PMID:22658665|PMID:22664493|PMID:22678879|PMID:22680785|PMID:22768251|PMID:22842702|PMID:22874010|PMID:22942289|PMID:22950544|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22999299|PMID:2300168|PMID:23027855|PMID:23067305|PMID:23082198|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23436935|PMID:2344617|PMID:23466340|PMID:2349952|PMID:23514810|PMID:23523379|PMID:23590265|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23709221|PMID:23721890|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23758905|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23810505|PMID:238191399|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:23951356|PMID:2397487|PMID:23974870|PMID:24033266|PMID:24066763|PMID:24081349|PMID:24129438|PMID:24243928|PMID:24269240|PMID:24375076|PMID:2441227|PMID:24412276|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24525081|PMID:24559724|PMID:24586523|PMID:24631642|PMID:24696795|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25087612|PMID:25122143|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25192979|PMID:25203624|PMID:25251442|PMID:25266159|PMID:25274949|PMID:25287046|PMID:25311995|PMID:25330774|PMID:25333069|PMID:25383785|PMID:25443471|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25536748|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:25651269|PMID:25682022|PMID:25697318|PMID:25697321|PMID:25698453|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25755212|PMID:25763566|PMID:25797027|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25900089|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26070913|PMID:26087176|PMID:26095523|PMID:26098992|PMID:26135562|PMID:26149808|PMID:26182300|PMID:26199320|PMID:26277102|PMID:26324139|PMID:26348465|PMID:26436105|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26500004|PMID:26568242 12125759 CFTR CF transmembrane conductance regulator gene DOID:0080526 bronchiectasis 1 ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of | ClinVar Annotator: match by term: Hypertrypsinemia, neonatal, susceptibility to PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26708955|PMID:26795017|PMID:26800689|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26864378|PMID:26911355|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27086061|PMID:27143075|PMID:27158673|PMID:27171515|PMID:27264265|PMID:27298017|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27577878|PMID:27625827|PMID:27660821|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27787503|PMID:27805836|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28040058|PMID:28129809|PMID:28194692|PMID:28261631|PMID:28325531|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28440306|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28711222|PMID:28736296|PMID:28801929|PMID:28863137|PMID:28930490|PMID:28957316|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29113966|PMID:29124052|PMID:29126871|PMID:29133775|PMID:29173301|PMID:29202459|PMID:29216686|PMID:29261177|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29484681|PMID:29497617|PMID:29504914|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29782810|PMID:29805046|PMID:29807875|PMID:29944384|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30046002|PMID:30089726|PMID:30232781|PMID:30244528|PMID:30279124|PMID:30348612|PMID:30420730|PMID:30444886|PMID:30487145|PMID:30488522|PMID:30548586|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30811104|PMID:30845638|PMID:30888834|PMID:30938940|PMID:30992994|PMID:30996306|PMID:31005549|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31118044|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31310009|PMID:31331863|PMID:31350925|PMID:31447099|PMID:31450232|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31682332|PMID:31788424|PMID:31808782|PMID:31916691|PMID:31980526|PMID:32026723|PMID:32204475|PMID:32281737|PMID:32292813|PMID:32357917|PMID:32429104|PMID:32662942|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32819855|PMID:33083013|PMID:33085659|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33260873|PMID:33270637|PMID:33365035|PMID:33374015|PMID:33572515|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33836782|PMID:33946859|PMID:33972190|PMID:34134972|PMID:34145097|PMID:34196078|PMID:34350279|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34888852|PMID:34974990|PMID:34996830|PMID:35418593|PMID:35585144|PMID:35626323|PMID:35698092|PMID:5371902|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7505767|PMID:7506096|PMID:7506605|PMID:7508414|PMID:7509310|PMID:7512860|PMID:7515303|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7539080|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542778|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7599637|PMID:7668304|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7682196|PMID:7684641|PMID:7684646|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7691344|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8605891|PMID:8659542|PMID:8662892|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242 12125759 CFTR CF transmembrane conductance regulator gene DOID:0080526 bronchiectasis 1 ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of | ClinVar Annotator: match by term: Hypertrypsinemia, neonatal, susceptibility to PMID:8889582|PMID:8956039|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067761|PMID:9101293|PMID:9135274|PMID:9150159|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9383031|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9493456|PMID:9507391|PMID:9536098|PMID:9550361|PMID:9557894|PMID:9618063|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9799593|PMID:9806422|PMID:9822639|PMID:9881185|PMID:9915972|PMID:9921909|PMID:9950364|PMID:9950763 12125759 CFTR CF transmembrane conductance regulator gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:2332 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:bile duct epithelium PMID:18988797|REF_RGD_ID:2307071 12125759 CFTR CF transmembrane conductance regulator gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:619566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 12125759 CFTR CF transmembrane conductance regulator gene DOID:0111862 congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital bilateral absence of the vas deferens PMID:10762539|PMID:10875853|PMID:11101688|PMID:12815607|PMID:12955726|PMID:15070876|PMID:16189704|PMID:17331079|PMID:18951463|PMID:20460946|PMID:20837875|PMID:20880762|PMID:21228398|PMID:21520337|PMID:22992668|PMID:23891399|PMID:23974870|PMID:24033266|PMID:25087612|PMID:25741868|PMID:26014425|PMID:26467025|PMID:26708955|PMID:27171515|PMID:27469177|PMID:28492532|PMID:28603918|PMID:28800122|PMID:30873022|PMID:31268981|PMID:33374015|PMID:7539342|PMID:8530001|PMID:8662892|PMID:9239681|PMID:9598638 12125759 CFTR CF transmembrane conductance regulator gene DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:7240710 20200619 OMIM 12125759 CFTR CF transmembrane conductance regulator gene DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation PMID:10077727|PMID:10094564|PMID:10103316|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10225950|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10425036|PMID:10439967|PMID:10445602|PMID:10453741|PMID:10480369|PMID:10556281|PMID:10562297|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10612827|PMID:10636451|PMID:10639207|PMID:10652351|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10671057|PMID:10719683|PMID:10746558|PMID:10755189|PMID:10762539|PMID:10764788|PMID:10777364|PMID:10782933|PMID:10790220|PMID:10790222|PMID:10794365|PMID:10798368|PMID:10801389|PMID:10819640|PMID:10834512|PMID:10836331|PMID:10875853|PMID:10875876|PMID:10909845|PMID:10913957|PMID:10922395|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10993719|PMID:11005149|PMID:11038458|PMID:11055897|PMID:11069835|PMID:11101688|PMID:11118444|PMID:11137998|PMID:11158459|PMID:11168024|PMID:11180668|PMID:11186891|PMID:11242048|PMID:11278813|PMID:11280952|PMID:11303517|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11427889|PMID:11446424|PMID:11448786|PMID:11466205|PMID:11484207|PMID:11491162|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11597353|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11788611|PMID:11796434|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938353|PMID:11938439|PMID:12000363|PMID:12007216|PMID:12070257|PMID:12070264|PMID:12080183|PMID:12120234|PMID:12124706|PMID:12127423|PMID:12133923|PMID:12167682|PMID:12172395|PMID:12200467|PMID:12357328|PMID:12394343|PMID:12397022|PMID:12400067|PMID:12437773|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12544470|PMID:12578973|PMID:12624947|PMID:12651858|PMID:12719375|PMID:12732620|PMID:12752573|PMID:12759680|PMID:12767731|PMID:12815607|PMID:12825076|PMID:1283148|PMID:1283149|PMID:12843327|PMID:12843337|PMID:1284466|PMID:1284477|PMID:1284534|PMID:1284538|PMID:1284540|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12900515|PMID:12919146|PMID:12938099|PMID:12940920|PMID:12955726|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1373935|PMID:1376016|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1380689|PMID:1380943|PMID:1381146|PMID:1381442|PMID:1381723|PMID:1382316|PMID:1384321|PMID:1384328|PMID:14526128|PMID:14618962|PMID:14623323|PMID:14685259|PMID:14685937|PMID:14963811|PMID:14993601|PMID:14998948|PMID:15017334|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15084988|PMID:15088804|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15181619|PMID:15246977|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:15357566|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371907|PMID:15371908|PMID:1545465|PMID:15463888|PMID:15463898|PMID:15463907|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15509635|PMID:15520400|PMID:15536480|PMID:15537723|PMID:15614862|PMID:15638824|PMID:15640323|PMID:15666307|PMID:15698945|PMID:15698946|PMID:15705292|PMID:15727251|PMID:15738290|PMID:15744523|PMID:15758663|PMID:15775704|PMID:15775760|PMID:15776432|PMID:15784035|PMID:15858154|PMID:15880796|PMID:15905293|PMID:15948195|PMID:15952991|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16128988|PMID:16132229|PMID:16137181|PMID:16189704|PMID:16196493|PMID:16199547|PMID:16202790|PMID:16240056|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16272798|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16417523|PMID:16429425|PMID:16436643|PMID:16436646|PMID:16442101|PMID:16443646|PMID:16478680|PMID:16488363|PMID:16499810|PMID:16596947|PMID:16617247|PMID:1673094|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16786510|PMID:16801189|PMID:1682496|PMID:16840743|PMID:16931591 12125759 CFTR CF transmembrane conductance regulator gene DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641|PMID:17015492|PMID:17035430|PMID:17048214|PMID:17076271|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1710600|PMID:1712898|PMID:1715308|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1723032|PMID:1723056|PMID:17234733|PMID:17272608|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17353351|PMID:17380060|PMID:17407485|PMID:17407489|PMID:17413420|PMID:17440499|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17507277|PMID:17516627|PMID:17560176|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17594398|PMID:17617039|PMID:17662673|PMID:17663888|PMID:17692578|PMID:17890437|PMID:17901983|PMID:17949679|PMID:17968991|PMID:17975025|PMID:18078365|PMID:18178635|PMID:18180206|PMID:18230692|PMID:18234567|PMID:18279436|PMID:18301294|PMID:18306312|PMID:18373402|PMID:18394117|PMID:18421494|PMID:18449561|PMID:18456578|PMID:18467194|PMID:18493878|PMID:18500736|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18597042|PMID:18639722|PMID:18685558|PMID:18687795|PMID:18703181|PMID:18716917|PMID:18778819|PMID:18782298|PMID:18796364|PMID:18951463|PMID:19014055|PMID:19014821|PMID:1903761|PMID:19092437|PMID:19166122|PMID:19176844|PMID:19181743|PMID:19181854|PMID:19202204|PMID:19212293|PMID:19227414|PMID:19265749|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19359498|PMID:19372188|PMID:1937486|PMID:19406970|PMID:19447078|PMID:19459534|PMID:19491324|PMID:19540513|PMID:19550280|PMID:19625452|PMID:19652440|PMID:19707853|PMID:19710401|PMID:19715466|PMID:19724303|PMID:19734299|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19843100|PMID:19845690|PMID:19846789|PMID:19878303|PMID:19880712|PMID:19885835|PMID:19897426|PMID:19910374|PMID:19914431|PMID:19914443|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20052365|PMID:20059485|PMID:20100616|PMID:20116881|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20381036|PMID:20416310|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20522854|PMID:20538955|PMID:20551465|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20651897|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20722470|PMID:20797923|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20880762|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20976528|PMID:20977904|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:2135388|PMID:21354377|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21474639|PMID:21483833|PMID:21486785|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21538969|PMID:21594800|PMID:21636331|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21811577|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:22148899|PMID:22156145|PMID:2220803|PMID:22293084|PMID:22299590|PMID:22310382|PMID:22318583|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22395041|PMID:22423042|PMID:22427236|PMID:22442927|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22504961|PMID:22545782|PMID:22569626|PMID:22572128|PMID:22573477|PMID:22591852|PMID:22627569|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22698459|PMID:22724884|PMID:22768251|PMID:22842702|PMID:22892530|PMID:22942289|PMID:22973227|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22995991|PMID:22999299|PMID:2300168|PMID:23017188|PMID:23027855|PMID:23065710|PMID:23067305|PMID:23076339|PMID:23082198|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23240968|PMID:23261175 12125759 CFTR CF transmembrane conductance regulator gene DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23436935|PMID:2344617|PMID:23466340|PMID:2349952|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23590265|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23688510|PMID:23709221|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23765052|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23810505|PMID:238191399|PMID:23820649|PMID:23837941|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:23933162|PMID:23951356|PMID:23953609|PMID:2397487|PMID:23974870|PMID:24019231|PMID:24033266|PMID:24066763|PMID:24081349|PMID:24082139|PMID:24106596|PMID:24129438|PMID:24204751|PMID:24225052|PMID:24243928|PMID:24269240|PMID:24375076|PMID:24388274|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24525081|PMID:24559724|PMID:24586523|PMID:24631642|PMID:24633926|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24816901|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25077647|PMID:25087612|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25192979|PMID:25203624|PMID:25251442|PMID:25266159|PMID:25274949|PMID:25287046|PMID:25304080|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25363320|PMID:25383785|PMID:25443471|PMID:25452595|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25553309|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:2565038|PMID:25651269|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25688174|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25755212|PMID:25763566|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25900089|PMID:25905921|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26003066|PMID:26006199|PMID:26014425|PMID:26070913|PMID:26075213|PMID:26087176|PMID:26095523|PMID:26098992|PMID:26135562|PMID:26146130|PMID:26149808|PMID:26160248|PMID:26182300|PMID:26199320|PMID:26208274|PMID:26277102|PMID:26324139|PMID:26348465|PMID:26364555|PMID:26429520|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26494713|PMID:26500004|PMID:26526220|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26651825|PMID:26708955|PMID:26755536|PMID:26795017|PMID:26800689|PMID:26823392|PMID:26826884|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26900683|PMID:26911355|PMID:26946416|PMID:26948992|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27081564|PMID:27086061|PMID:27143075|PMID:27145507|PMID:27158673|PMID:27171515|PMID:27174726|PMID:27209008|PMID:27214204|PMID:27222777|PMID:27264265|PMID:27298017|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27577878|PMID:27625827|PMID:27659740|PMID:27660821|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27805836|PMID:27812499|PMID:27870577|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28040058|PMID:28129809|PMID:28152038|PMID:28163942|PMID:28185838|PMID:28194692|PMID:28196530|PMID:28261631|PMID:28325531|PMID:28371569|PMID:28408918|PMID:28419121|PMID:28440306|PMID:28465863|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28711222|PMID:28736296|PMID:28771972|PMID:28785019|PMID:28800122|PMID:28801929|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28947035|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29133775|PMID:29168366|PMID:29173301|PMID:29178639 12125759 CFTR CF transmembrane conductance regulator gene DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation PMID:29216686|PMID:29261177|PMID:29279204|PMID:29292091|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29484681|PMID:29497617|PMID:29503250|PMID:29504914|PMID:29520692|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29685811|PMID:29750258|PMID:29754320|PMID:29779145|PMID:29805046|PMID:29807875|PMID:29944384|PMID:29983195|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30046002|PMID:30081288|PMID:30089726|PMID:30134826|PMID:30146269|PMID:30230364|PMID:30232781|PMID:30244528|PMID:30279124|PMID:30348612|PMID:30420730|PMID:30444886|PMID:30487145|PMID:30488522|PMID:30540547|PMID:30548586|PMID:30561903|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30698611|PMID:30726326|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30811104|PMID:30845638|PMID:30851139|PMID:30873022|PMID:30888834|PMID:30930780|PMID:30938940|PMID:30992994|PMID:30993151|PMID:30996306|PMID:31005549|PMID:31016917|PMID:31019283|PMID:31028937|PMID:31029283|PMID:31036917|PMID:31118044|PMID:31126253|PMID:31130284|PMID:31180159|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31268981|PMID:31310009|PMID:31328366|PMID:31331863|PMID:31350925|PMID:31447099|PMID:31450232|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31759907|PMID:31776420|PMID:31788424|PMID:31808782|PMID:31845523|PMID:31883651|PMID:31916691|PMID:31978131|PMID:31980526|PMID:31990467|PMID:32003480|PMID:32113160|PMID:32126153|PMID:32150665|PMID:32172930|PMID:32204475|PMID:32281737|PMID:32357917|PMID:32414100|PMID:32429104|PMID:32484936|PMID:32512765|PMID:32539862|PMID:32662942|PMID:32687833|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32934006|PMID:32935393|PMID:33020115|PMID:33083013|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33195651|PMID:33260873|PMID:33270637|PMID:33296276|PMID:33341408|PMID:33365035|PMID:33374015|PMID:33375403|PMID:33393655|PMID:33424627|PMID:33468668|PMID:33495079|PMID:33572515|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33836782|PMID:33922413|PMID:33946859|PMID:33972190|PMID:34099697|PMID:34134972|PMID:34145097|PMID:34196078|PMID:34405919|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34888852|PMID:34974990|PMID:34996830|PMID:35109852|PMID:35418593|PMID:35527187|PMID:35585144|PMID:35626323|PMID:35698092|PMID:3716676|PMID:5371902|PMID:63921865|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7505694|PMID:7505767|PMID:7506096|PMID:7506605|PMID:7508414|PMID:7509310|PMID:7509683|PMID:7509684|PMID:7512860|PMID:7512993|PMID:7513293|PMID:7513889|PMID:7515303|PMID:7516234|PMID:7517264|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521710|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7526928|PMID:7529319|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7539080|PMID:7539342|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542778|PMID:7543317|PMID:7544319|PMID:7544320|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550227|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7586569|PMID:7599637|PMID:7668304|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7682196|PMID:7683628|PMID:7683952|PMID:7684641|PMID:7684644|PMID:7684646|PMID:7686423|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7689897|PMID:7691344|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8163293|PMID:8343799|PMID:8406518|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8530001|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8605891|PMID:8644755|PMID:8659542|PMID:8662892|PMID:8663008|PMID:8680406|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8723695|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8829633 12125759 CFTR CF transmembrane conductance regulator gene DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation PMID:8829643|PMID:8834261|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582|PMID:8910333|PMID:8947061|PMID:8956039|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9084934|PMID:9101293|PMID:9135274|PMID:9150159|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9254853|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9383031|PMID:9401110|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9452054|PMID:9482579|PMID:9493456|PMID:9499426|PMID:9507391|PMID:9512029|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9550362|PMID:9557894|PMID:9598638|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9799593|PMID:9804160|PMID:9806422|PMID:9822639|PMID:9915972|PMID:9920885|PMID:9921909|PMID:9950364|PMID:9950763 12125759 CFTR CF transmembrane conductance regulator gene DOID:10211 cholelithiasis ISO RGD:619566 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:liver (human) PMID:12184527|REF_RGD_ID:21408573 12125759 CFTR CF transmembrane conductance regulator gene DOID:10652 Alzheimer's disease ISO RGD:619566 D RGD:9068941 20200609 RGD protein:decreased expression:hypothalamus PMID:14757935|REF_RGD_ID:11566025 12125759 CFTR CF transmembrane conductance regulator gene DOID:10808 gastric ulcer treatment ISO RGD:2332 D RGD:9068941 20200609 RGD PMID:23596793|REF_RGD_ID:11567229 12125759 CFTR CF transmembrane conductance regulator gene DOID:11132 prostatic hypertrophy ISO RGD:619566 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:25546515|REF_RGD_ID:11566048 12125759 CFTR CF transmembrane conductance regulator gene DOID:11372 megacolon ISO RGD:619566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12125759 CFTR CF transmembrane conductance regulator gene DOID:11383 cryptorchidism ISO RGD:10331 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:testis PMID:22777528|REF_RGD_ID:11567213 12125759 CFTR CF transmembrane conductance regulator gene DOID:12336 male infertility ISO RGD:619566 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Male infertility PMID:11547256|PMID:11883825|PMID:12124706|PMID:15070876|PMID:15858154|PMID:15952991|PMID:15987793|PMID:16429425|PMID:17003641|PMID:17594398|PMID:17617039|PMID:18301294|PMID:18456578|PMID:19014055|PMID:19212293|PMID:19843100|PMID:20021716|PMID:20460946|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22156145|PMID:22310382|PMID:22975760|PMID:22992668|PMID:23082198|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24082139|PMID:25033378|PMID:25087612|PMID:25304080|PMID:25583415|PMID:25741868|PMID:25910067|PMID:26467025|PMID:26526220|PMID:26755536|PMID:26990548|PMID:27086061|PMID:27171515|PMID:27214204|PMID:27469177|PMID:27659740|PMID:27738188|PMID:28129809|PMID:28492532|PMID:28544683|PMID:28603918|PMID:31036917|PMID:32414100|PMID:7586569|PMID:7739684|PMID:9804160 12125759 CFTR CF transmembrane conductance regulator gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:10331 D RGD:9068941 20200609 RGD DNA:mutation: : PMID:20015999|REF_RGD_ID:4140389 12125759 CFTR CF transmembrane conductance regulator gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:11243954|REF_RGD_ID:4140482 12125759 CFTR CF transmembrane conductance regulator gene DOID:1324 lung cancer susceptibility ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:deletion, SNP, haplotype: :p.F508del, rs10487372 (human) PMID:20116881|REF_RGD_ID:11566029 12125759 CFTR CF transmembrane conductance regulator gene DOID:13258 typhoid fever susceptibility ISO RGD:619566 D RGD:9068941 20200716 RGD DNA:repeats: :CA repeats(human) PMID:16078047|REF_RGD_ID:35673348 12125759 CFTR CF transmembrane conductance regulator gene DOID:13316 exocrine pancreatic insufficiency ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:insertion:exon:c.3904_3905insT (human) PMID:9254853|REF_RGD_ID:4140401 12125759 CFTR CF transmembrane conductance regulator gene DOID:13316 exocrine pancreatic insufficiency onset ISO RGD:619566 D RGD:9068941 20200609 RGD associated with cystic fibrosis; DNA:mutation:exon:p.R347P (human) PMID:8535440|REF_RGD_ID:4140448 12125759 CFTR CF transmembrane conductance regulator gene DOID:13406 pulmonary sarcoidosis ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:mutations:whole blood : PMID:20722470|REF_RGD_ID:4139905 12125759 CFTR CF transmembrane conductance regulator gene DOID:13564 aspergillosis severity ISO RGD:10331 D RGD:9068941 20200716 RGD PMID:22135344|REF_RGD_ID:35673332 12125759 CFTR CF transmembrane conductance regulator gene DOID:13580 cholestasis ISO RGD:2332 D RGD:9068941 20200609 RGD mRNA,Protein:increased expression PMID:15605366|REF_RGD_ID:1599598 12125759 CFTR CF transmembrane conductance regulator gene DOID:14227 azoospermia ISO RGD:619566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Obstructive azoospermia PMID:10103316|PMID:10341008|PMID:10425036|PMID:10556281|PMID:10571949|PMID:10653141|PMID:10668931|PMID:10746558|PMID:10782933|PMID:10801389|PMID:10812063|PMID:10869121|PMID:10875853|PMID:10909845|PMID:10923036|PMID:10950058|PMID:10963013|PMID:11069835|PMID:11168024|PMID:11186891|PMID:11242048|PMID:11280952|PMID:11303517|PMID:11354633|PMID:11484207|PMID:11491164|PMID:11504857|PMID:11547256|PMID:11729110|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11788090|PMID:11883825|PMID:11924117|PMID:12007216|PMID:12014388|PMID:12124706|PMID:12127423|PMID:12133923|PMID:12167682|PMID:12400067|PMID:12767731|PMID:1283148|PMID:1284534|PMID:1284535|PMID:1284639|PMID:12955726|PMID:1370875|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1381146|PMID:1381723|PMID:1384321|PMID:1384326|PMID:14618962|PMID:14685937|PMID:14963811|PMID:14993601|PMID:15070876|PMID:15097853|PMID:15141088|PMID:15246977|PMID:1536179|PMID:15367919|PMID:15371902|PMID:15463907|PMID:15482777|PMID:15486385|PMID:15536480|PMID:15618592|PMID:15619635|PMID:15640323|PMID:15775704|PMID:15857421|PMID:15858154|PMID:15880796|PMID:15905293|PMID:15952991|PMID:15987793|PMID:16020494|PMID:16049310|PMID:16075239|PMID:16126774|PMID:16134171|PMID:16189704|PMID:16263954|PMID:16266832|PMID:16283887|PMID:16429425|PMID:16436643|PMID:16478680|PMID:16481891|PMID:16484308|PMID:1673094|PMID:16778595|PMID:16801189|PMID:16840743|PMID:1695717|PMID:17003641|PMID:17015492|PMID:17035430|PMID:17048214|PMID:1715308|PMID:17175965|PMID:17206681|PMID:1723032|PMID:17314234|PMID:17329263|PMID:17407485|PMID:17407489|PMID:17413420|PMID:17489851|PMID:1756602|PMID:17572159|PMID:17576681|PMID:17594397|PMID:17594398|PMID:17617039|PMID:17662673|PMID:17681820|PMID:17692578|PMID:17719933|PMID:18078365|PMID:18178635|PMID:18180206|PMID:18234567|PMID:18301294|PMID:18394117|PMID:18456578|PMID:18467194|PMID:18501000|PMID:18507830|PMID:18567645|PMID:18685558|PMID:18687795|PMID:18778819|PMID:18796364|PMID:18951463|PMID:19014055|PMID:19092437|PMID:19092444|PMID:19176844|PMID:19202204|PMID:19212293|PMID:19227414|PMID:19318035|PMID:1937486|PMID:19406970|PMID:19459534|PMID:19707853|PMID:1977306|PMID:19812525|PMID:19833837|PMID:19837664|PMID:19843100|PMID:19878303|PMID:19880712|PMID:19885835|PMID:19897426|PMID:19925455|PMID:1997384|PMID:20021716|PMID:20059485|PMID:20116881|PMID:20301295|PMID:20301428|PMID:20460946|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20717170|PMID:20797923|PMID:20837875|PMID:20849526|PMID:20923678|PMID:20977904|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21198395|PMID:21228398|PMID:21411740|PMID:21486785|PMID:21507732|PMID:21520337|PMID:21538969|PMID:21594800|PMID:21658649|PMID:21679131|PMID:21804385|PMID:21907281|PMID:21965669|PMID:21976147|PMID:21983488|PMID:22020151|PMID:2210767|PMID:22156145|PMID:2220803|PMID:22310382|PMID:22332135|PMID:2233932|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22449949|PMID:22569626|PMID:22572128|PMID:22658665|PMID:22664493|PMID:22680785|PMID:22842702|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22999299|PMID:2300168|PMID:23067305|PMID:23082198|PMID:23104983|PMID:23168765|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23420618|PMID:23436935|PMID:2344617|PMID:2349952|PMID:23613805|PMID:23656801|PMID:23716676|PMID:23721890|PMID:23751316|PMID:23781395|PMID:2378364|PMID:23810505|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24082139|PMID:24106596|PMID:24375076|PMID:24418186|PMID:24419263|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24451227|PMID:24559724|PMID:24586523|PMID:24631642|PMID:24696795|PMID:24727426|PMID:2475911|PMID:24958810|PMID:24973281|PMID:25033378|PMID:25042876|PMID:25087612|PMID:25148434|PMID:25251442|PMID:25287046|PMID:25304080|PMID:25330774|PMID:25583415|PMID:25608981|PMID:25636364|PMID:25697321|PMID:25698453|PMID:2570460 12125759 CFTR CF transmembrane conductance regulator gene DOID:14227 azoospermia ISO RGD:619566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Obstructive azoospermia PMID:25735457|PMID:25741868|PMID:25741869|PMID:25763566|PMID:25797027|PMID:25799511|PMID:25824995|PMID:25826586|PMID:25910067|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26070913|PMID:26095523|PMID:26149808|PMID:26277102|PMID:26324139|PMID:26467025|PMID:26526220|PMID:26538069|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26648081|PMID:26708955|PMID:26755536|PMID:26800689|PMID:26846474|PMID:26900683|PMID:26911355|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27086061|PMID:27171515|PMID:27209008|PMID:27214204|PMID:27298017|PMID:27334259|PMID:27364092|PMID:27447098|PMID:27469177|PMID:27577878|PMID:27659740|PMID:27660821|PMID:27673710|PMID:27738188|PMID:27787503|PMID:27805836|PMID:27898234|PMID:28129809|PMID:28325531|PMID:28419121|PMID:28456595|PMID:28492530|PMID:28492532|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28617084|PMID:28655774|PMID:28736296|PMID:28801929|PMID:28930490|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29261177|PMID:29327948|PMID:29431110|PMID:29451946|PMID:29504914|PMID:29589582|PMID:29614238|PMID:29668297|PMID:29805046|PMID:29936070|PMID:29944384|PMID:30030066|PMID:30046002|PMID:30089726|PMID:30279124|PMID:30487145|PMID:30561903|PMID:30600599|PMID:30602999|PMID:30609409|PMID:30888834|PMID:30930780|PMID:30938940|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31310009|PMID:31447099|PMID:31523618|PMID:31589614|PMID:31776420|PMID:31788424|PMID:31808782|PMID:31980526|PMID:32414100|PMID:32429104|PMID:32761997|PMID:32935393|PMID:33020115|PMID:33083013|PMID:33118704|PMID:33144682|PMID:33270637|PMID:33365035|PMID:33572515|PMID:33713579|PMID:33972190|PMID:34196078|PMID:34426522|PMID:7506096|PMID:7508183|PMID:7508414|PMID:7509683|PMID:7512860|PMID:7517267|PMID:7522329|PMID:7524913|PMID:7529319|PMID:7533604|PMID:7537148|PMID:7539342|PMID:7540133|PMID:7544320|PMID:7544788|PMID:7560099|PMID:7573058|PMID:7586569|PMID:7599637|PMID:7680769|PMID:7682884|PMID:7683628|PMID:7684641|PMID:7684646|PMID:7686336|PMID:7689013|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7739684|PMID:7789957|PMID:8092189|PMID:8421472|PMID:8556303|PMID:8605891|PMID:8659542|PMID:8662892|PMID:8698344|PMID:8702904|PMID:8740923|PMID:8825927|PMID:8844211|PMID:8886242|PMID:8956039|PMID:8968585|PMID:9108869|PMID:9135274|PMID:9235853|PMID:9259194|PMID:9259197|PMID:9272157|PMID:9272738|PMID:9435322|PMID:9439669|PMID:9459534|PMID:9493456|PMID:9536098|PMID:9550361|PMID:9557894|PMID:9618063|PMID:9725922|PMID:9788722|PMID:9804160|PMID:9921909|PMID:9950763 12125759 CFTR CF transmembrane conductance regulator gene DOID:14766 renal agenesis ISO RGD:619566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11119745 12125759 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:7240710 20180130 OMIM 12125759 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:10026154|PMID:10050655|PMID:10077727|PMID:10094564|PMID:10103316|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10220340|PMID:10225950|PMID:10228103|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10419506|PMID:10425036|PMID:10425081|PMID:10439967|PMID:10445602|PMID:10447267|PMID:10453741|PMID:10462611|PMID:10480369|PMID:10515411|PMID:10517260|PMID:10556281|PMID:10562297|PMID:10562541|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10605524|PMID:10612827|PMID:10612849|PMID:10636451|PMID:10639207|PMID:10651488|PMID:10652351|PMID:10653140|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10671057|PMID:10719683|PMID:10736180|PMID:10746558|PMID:10755189|PMID:10762539|PMID:10764788|PMID:10777364|PMID:10782933|PMID:10790220|PMID:10790222|PMID:10790225|PMID:10794365|PMID:10798353|PMID:10798368|PMID:10801389|PMID:10812063|PMID:10819640|PMID:10834512|PMID:10836331|PMID:10852925|PMID:10862085|PMID:10862786|PMID:10866956|PMID:10869121|PMID:10874326|PMID:10875853|PMID:10875874|PMID:10875876|PMID:10878476|PMID:10909845|PMID:10913957|PMID:10922395|PMID:10922396|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10980550|PMID:10980579|PMID:10982968|PMID:10993719|PMID:11001817|PMID:11005149|PMID:11022925|PMID:11025834|PMID:11038458|PMID:11055897|PMID:11069835|PMID:11101688|PMID:11102992|PMID:11108532|PMID:11118444|PMID:11119745|PMID:11137998|PMID:11158459|PMID:11168023|PMID:11168024|PMID:11171377|PMID:11180668|PMID:11186891|PMID:11216394|PMID:11219165|PMID:11242048|PMID:11276378|PMID:11278813|PMID:11280952|PMID:11288708|PMID:11288718|PMID:11295849|PMID:11303509|PMID:11303517|PMID:11336127|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11390899|PMID:11427889|PMID:11430710|PMID:11443282|PMID:11446424|PMID:11448786|PMID:11462247|PMID:11466205|PMID:11471192|PMID:11484207|PMID:11491162|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11555145|PMID:11585852|PMID:11589722|PMID:11597353|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11788091|PMID:11788611|PMID:11796430|PMID:11796434|PMID:11796591|PMID:11810271|PMID:11823443|PMID:11845002|PMID:11882668|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938353|PMID:11938439|PMID:11950844|PMID:12000363|PMID:12007216|PMID:12014388|PMID:12070257|PMID:12070264|PMID:12080183|PMID:12084728|PMID:12089190|PMID:12116247|PMID:12120234|PMID:12124706|PMID:12124743|PMID:12127423|PMID:12133923|PMID:12151438|PMID:12166651|PMID:12167682|PMID:12172395|PMID:12183675|PMID:12186867|PMID:12200467|PMID:12215837|PMID:12357328|PMID:12361483|PMID:12394343|PMID:12397022|PMID:12400067|PMID:12422349|PMID:12437773|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12521276|PMID:12529365|PMID:12529713|PMID:12530290|PMID:12544470|PMID:12578973|PMID:12624947|PMID:12630722|PMID:12651858|PMID:12651880|PMID:12658038|PMID:12679372|PMID:12719375|PMID:12732620|PMID:12752573|PMID:12759680|PMID:12767731|PMID:12783301|PMID:12815607|PMID:12820707|PMID:12825076|PMID:1282900|PMID:12829453|PMID:1283148|PMID:1283149|PMID:1283151|PMID:12833420|PMID:12843327|PMID:12843337|PMID:1284466|PMID:1284468|PMID:1284471|PMID:1284477|PMID:1284478|PMID:1284529|PMID:1284530|PMID:1284531|PMID:1284534|PMID:1284535|PMID:1284537|PMID:1284538|PMID:1284539|PMID:1284540|PMID:1284541|PMID:1284542|PMID:1284627|PMID:1284639|PMID:1284889|PMID:12865275|PMID:12874665|PMID:12900515|PMID:12913074|PMID:12919146|PMID:12938099|PMID:12939655|PMID:12939925|PMID:12940920|PMID:12952861|PMID:12955726|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1372093|PMID:1373934|PMID:1373935|PMID:1374052|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1379211|PMID:1379413|PMID:1380673|PMID:1380689|PMID:1380943|PMID:1381146|PMID:1381442|PMID:1381723|PMID:1382316|PMID:1384321|PMID:1384326|PMID:1384328|PMID:14526128|PMID:14551163|PMID:14586256|PMID:14618962|PMID:14623323|PMID:14641997 12125759 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:14685259|PMID:14685937|PMID:14696845|PMID:14872121|PMID:14963811|PMID:14993601|PMID:14998948|PMID:15008989|PMID:15017334|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15046061|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15084988|PMID:15088804|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15130785|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15181619|PMID:15218997|PMID:15241793|PMID:15246977|PMID:15284228|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:15357566|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371905|PMID:15371907|PMID:15371908|PMID:15390350|PMID:1545465|PMID:15463840|PMID:15463866|PMID:15463882|PMID:15463888|PMID:15463898|PMID:15463906|PMID:15463907|PMID:15463917|PMID:15463919|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15502086|PMID:15504721|PMID:15507674|PMID:15509635|PMID:15520400|PMID:15531750|PMID:15536480|PMID:15537723|PMID:15562283|PMID:15591474|PMID:15614862|PMID:15618592|PMID:15619635|PMID:15638824|PMID:15640323|PMID:15645635|PMID:15666307|PMID:15681482|PMID:15698945|PMID:15698946|PMID:15705292|PMID:15705389|PMID:15716623|PMID:15727251|PMID:15729345|PMID:15738290|PMID:15744517|PMID:15744523|PMID:15744829|PMID:15754262|PMID:15758663|PMID:15772171|PMID:15775704|PMID:15775760|PMID:15776432|PMID:15784035|PMID:15829248|PMID:15840711|PMID:15853950|PMID:15857421|PMID:15858154|PMID:15880796|PMID:15905293|PMID:15948195|PMID:15952991|PMID:15970608|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16037690|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16128988|PMID:16132229|PMID:16134171|PMID:16137181|PMID:16141195|PMID:16187186|PMID:16189704|PMID:16193325|PMID:16196493|PMID:16199547|PMID:16202790|PMID:16212675|PMID:16240056|PMID:16244288|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16272798|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16311287|PMID:16339147|PMID:16362824|PMID:16379540|PMID:16417523|PMID:16423550|PMID:16429425|PMID:16435054|PMID:16436643|PMID:16436646|PMID:16442101|PMID:16443646|PMID:16454991|PMID:16478680|PMID:16481891|PMID:16484308|PMID:16488363|PMID:16493442|PMID:16499810|PMID:16572913|PMID:16596947|PMID:16617247|PMID:16635477|PMID:16678395|PMID:16678503|PMID:16714368|PMID:1673094|PMID:16741161|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16786510|PMID:16801189|PMID:16822950|PMID:1682496|PMID:16837565|PMID:16840743|PMID:16915933|PMID:16931591|PMID:16938751|PMID:1695717|PMID:16963320|PMID:16980811|PMID:16989640|PMID:17003641|PMID:17015492|PMID:17020467|PMID:17020473|PMID:17035430|PMID:17043152|PMID:17048214|PMID:17062471|PMID:17076271|PMID:17095337|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1710600|PMID:1712898|PMID:1712984|PMID:17137500|PMID:1715308|PMID:1716180|PMID:17172597|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1722350|PMID:1723032|PMID:1723056|PMID:17234733|PMID:17235394|PMID:17244607|PMID:17251329|PMID:17272608|PMID:17283574|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17353351|PMID:17378246|PMID:17380060|PMID:17398169|PMID:17407485|PMID:17407489|PMID:17413420|PMID:17440499|PMID:17448246|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17507277|PMID:17516627|PMID:17525091|PMID:17539902|PMID:17560176|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17580535|PMID:17582383|PMID:17591940|PMID:17594397|PMID:17594398|PMID:17617039|PMID:17660831|PMID:17662673|PMID:17663888|PMID:17673962|PMID:17678620|PMID:17681820|PMID:17692578|PMID:17716958|PMID:17718859|PMID:17719933|PMID:17823699|PMID:17825628|PMID:17850636|PMID:17890437|PMID:17901983|PMID:17949679|PMID:17968991|PMID:17968998|PMID:17975025|PMID:17981921|PMID:18078365|PMID:18178635|PMID:18180206|PMID:18193900|PMID:18195584|PMID:18227622|PMID:18230692|PMID:18234567|PMID:18279436|PMID:18292811|PMID:18301294|PMID:18304229|PMID:18305154|PMID:18306312|PMID:18344710|PMID:18350634|PMID:18373402|PMID:18394117|PMID:18414213|PMID:18421494 12125759 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:18449561|PMID:18455968|PMID:18456578|PMID:18467194|PMID:18493878|PMID:18497194|PMID:18499536|PMID:18500736|PMID:18501000|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18597042|PMID:18639722|PMID:1867536|PMID:18676185|PMID:18683213|PMID:18685558|PMID:18687795|PMID:18703181|PMID:18703788|PMID:18716917|PMID:18766277|PMID:18769034|PMID:18778819|PMID:18782298|PMID:18796364|PMID:18832460|PMID:18937943|PMID:18951463|PMID:18955805|PMID:19014055|PMID:19014821|PMID:19017867|PMID:19019741|PMID:19019984|PMID:1903761|PMID:19092437|PMID:19092444|PMID:19139070|PMID:19166122|PMID:19176844|PMID:19181743|PMID:19181854|PMID:19202204|PMID:19212293|PMID:19227414|PMID:19236881|PMID:19265749|PMID:19307599|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19332488|PMID:19339519|PMID:19359437|PMID:19359498|PMID:19369536|PMID:19372188|PMID:1937486|PMID:19381710|PMID:19383231|PMID:19406970|PMID:1944451|PMID:19445912|PMID:19447078|PMID:19457724|PMID:19459534|PMID:19481507|PMID:19491324|PMID:19540513|PMID:19550280|PMID:19587087|PMID:19625452|PMID:19625487|PMID:19645745|PMID:19652440|PMID:19707853|PMID:19710401|PMID:19715466|PMID:19724303|PMID:19734129|PMID:19734299|PMID:19759008|PMID:19763152|PMID:1977306|PMID:19774621|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19843100|PMID:19845690|PMID:19846789|PMID:19858235|PMID:19878303|PMID:19880712|PMID:19883345|PMID:19885835|PMID:19893581|PMID:19897426|PMID:1990834|PMID:19910374|PMID:19910674|PMID:19914431|PMID:19914443|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20031113|PMID:20052365|PMID:20052366|PMID:20052766|PMID:20059485|PMID:20100616|PMID:20110398|PMID:20116881|PMID:20144563|PMID:20150177|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20190016|PMID:20217271|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20301773|PMID:20307669|PMID:20332619|PMID:20351098|PMID:20351101|PMID:20381036|PMID:20416310|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20460947|PMID:20510657|PMID:20512161|PMID:20522854|PMID:20538955|PMID:20551307|PMID:20551465|PMID:20558957|PMID:20560922|PMID:20562583|PMID:20571109|PMID:20580320|PMID:20595578|PMID:20616359|PMID:20619026|PMID:20622033|PMID:20627915|PMID:20628052|PMID:20639189|PMID:20651897|PMID:20653504|PMID:20657600|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20714932|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20799350|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20875776|PMID:20879059|PMID:20880762|PMID:20920895|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20952391|PMID:20972246|PMID:20976528|PMID:20977904|PMID:20981092|PMID:21059651|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:21254931|PMID:21296036|PMID:21317048|PMID:2135388|PMID:21354377|PMID:21388895|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21449922|PMID:21455600|PMID:21474639|PMID:21483833|PMID:21486785|PMID:21499205|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21521896|PMID:21538969|PMID:21576373|PMID:21594800|PMID:21636331|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21708286|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21837768|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21917531|PMID:21931512|PMID:21948798|PMID:21965669|PMID:21976147|PMID:21983161|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22052625|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22119790|PMID:22137130|PMID:22138447|PMID:22138491|PMID:22148899|PMID:22156145|PMID:22160394|PMID:22191729|PMID:22194755|PMID:2220803|PMID:22210114|PMID:22271776|PMID:22274833|PMID:22293084|PMID:22299590|PMID:22300503|PMID:22310382|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22327961|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22362925|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22395041 12125759 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:22406018|PMID:22423042|PMID:22427236|PMID:22438829|PMID:22439019|PMID:22442927|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22490504|PMID:22504961|PMID:22545782|PMID:22550062|PMID:22569626|PMID:22572128|PMID:22572733|PMID:22573477|PMID:22591852|PMID:22608296|PMID:22612315|PMID:22627569|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22698459|PMID:22722932|PMID:22724884|PMID:22768251|PMID:22842702|PMID:22859523|PMID:22874010|PMID:22892530|PMID:22896710|PMID:22942289|PMID:22950544|PMID:22973227|PMID:22975760|PMID:22981120|PMID:22981294|PMID:22992393|PMID:22992668|PMID:22995991|PMID:22999299|PMID:23000902|PMID:2300168|PMID:23017188|PMID:23027855|PMID:23055971|PMID:23065710|PMID:23067305|PMID:23076339|PMID:23082198|PMID:23083715|PMID:23089694|PMID:23092102|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23240968|PMID:23248597|PMID:23261175|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23343000|PMID:23349053|PMID:23361109|PMID:23378595|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23401342|PMID:23405520|PMID:23420618|PMID:23430892|PMID:23436935|PMID:2344617|PMID:23466340|PMID:23470247|PMID:23483918|PMID:2349952|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23554779|PMID:23555973|PMID:23587593|PMID:23590265|PMID:23612672|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23688510|PMID:23709221|PMID:23712087|PMID:23716676|PMID:23721890|PMID:23727931|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23758905|PMID:23765052|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23790242|PMID:23791427|PMID:23810505|PMID:238191399|PMID:23820649|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23890012|PMID:23890029|PMID:23891399|PMID:23907436|PMID:23924900|PMID:23933162|PMID:2395135|PMID:23951356|PMID:23953609|PMID:23955087|PMID:2397487|PMID:23974870|PMID:24019231|PMID:24022636|PMID:24033266|PMID:24058550|PMID:24066763|PMID:24081349|PMID:24082139|PMID:24106596|PMID:24129438|PMID:24204751|PMID:24225052|PMID:24243928|PMID:24269240|PMID:24272871|PMID:24326373|PMID:24375076|PMID:24388274|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24419263|PMID:24433235|PMID:24434749|PMID:24435787|PMID:24440180|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24513262|PMID:24517344|PMID:24525081|PMID:24551851|PMID:24556927|PMID:24559724|PMID:24561283|PMID:24586523|PMID:24624459|PMID:24631642|PMID:24633926|PMID:24649380|PMID:24671311|PMID:24687356|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24777605|PMID:24784896|PMID:24813944|PMID:24816901|PMID:24958810|PMID:24973281|PMID:25016221|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25077647|PMID:25087612|PMID:25093022|PMID:25097766|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25176415|PMID:25192979|PMID:25203624|PMID:25251442|PMID:25266159|PMID:25266997|PMID:25274949|PMID:25277268|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25346962|PMID:25363320|PMID:25383785|PMID:25403292|PMID:25404111|PMID:25443471|PMID:25452595|PMID:25459562|PMID:25473543|PMID:25481366|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25536748|PMID:25553309|PMID:25556971|PMID:25569187|PMID:25569440|PMID:25580864|PMID:25583415|PMID:25593612|PMID:25608981|PMID:25636364|PMID:25640679|PMID:2565038|PMID:25651269|PMID:25658530|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25688174|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25739099|PMID:25741868|PMID:25741869|PMID:25754095|PMID:25755212|PMID:25763566|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824381|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25887396|PMID:25892339|PMID:25898554|PMID:25900089|PMID:25905921|PMID:25910067|PMID:25922769|PMID:25940043|PMID:25956447|PMID:25963003|PMID:25981758|PMID:26003066|PMID:26003067|PMID:26006199 12125759 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:26014425|PMID:26038974|PMID:26070913|PMID:26075213|PMID:26075876|PMID:26087173|PMID:26087176|PMID:26089335|PMID:26095523|PMID:26096753|PMID:26098992|PMID:26100556|PMID:26135562|PMID:26146130|PMID:26149808|PMID:26160248|PMID:26182300|PMID:26199320|PMID:26208274|PMID:26214305|PMID:26229102|PMID:26277102|PMID:26293390|PMID:26324139|PMID:26334177|PMID:26335950|PMID:26348465|PMID:26354092|PMID:26358851|PMID:26364555|PMID:26385858|PMID:26399542|PMID:26429520|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26494713|PMID:26496611|PMID:26500004|PMID:26526220|PMID:26538069|PMID:26540286|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26651825|PMID:26656651|PMID:26671754|PMID:26684250|PMID:26708955|PMID:26730394|PMID:26755536|PMID:26761715|PMID:26795017|PMID:26800689|PMID:26814065|PMID:26823392|PMID:26826884|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26856995|PMID:26864378|PMID:26888287|PMID:26898888|PMID:26900683|PMID:26905352|PMID:26911355|PMID:26946416|PMID:26948992|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27026144|PMID:27049043|PMID:27081564|PMID:27086061|PMID:27131402|PMID:27143075|PMID:27145507|PMID:27157324|PMID:27158673|PMID:27160424|PMID:27171515|PMID:27174726|PMID:27175795|PMID:27182737|PMID:27185048|PMID:27195969|PMID:27209008|PMID:27214204|PMID:27222777|PMID:27240813|PMID:27261451|PMID:27264265|PMID:27287722|PMID:27298017|PMID:27311679|PMID:27324553|PMID:27334259|PMID:27340661|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27488443|PMID:27533158|PMID:27535533|PMID:27555793|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27659740|PMID:27660821|PMID:27662103|PMID:27665964|PMID:27673710|PMID:27706244|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27787503|PMID:27805836|PMID:27806795|PMID:27812499|PMID:27837951|PMID:27870577|PMID:27884173|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28003367|PMID:28027573|PMID:28040058|PMID:28068001|PMID:28116329|PMID:28129809|PMID:28129813|PMID:28152038|PMID:28163942|PMID:28174639|PMID:28185838|PMID:28194692|PMID:28196530|PMID:28242630|PMID:28261631|PMID:28325531|PMID:28332257|PMID:28340353|PMID:28348582|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28422754|PMID:28440306|PMID:28448979|PMID:28456595|PMID:28465863|PMID:28469871|PMID:28471435|PMID:28475858|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28575328|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28687971|PMID:28711222|PMID:28736296|PMID:28771972|PMID:28784578|PMID:28785019|PMID:28800122|PMID:28801929|PMID:28805948|PMID:28811149|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28947035|PMID:28957316|PMID:28968805|PMID:28978796|PMID:28992757|PMID:29035608|PMID:29055982|PMID:29095814|PMID:29099333|PMID:29099344|PMID:29113966|PMID:29124052|PMID:29126871|PMID:29133775|PMID:2915972|PMID:29168366|PMID:29173301|PMID:29174009|PMID:29178639|PMID:29202459|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29279204|PMID:29292091|PMID:29298718|PMID:29307731|PMID:29327948|PMID:29351449|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29475947|PMID:29484681|PMID:29497617|PMID:29503250|PMID:29504914|PMID:29520692|PMID:29569753|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29685811|PMID:29727070|PMID:29750258|PMID:29754320|PMID:29779145|PMID:29782810|PMID:29805046|PMID:29807875|PMID:29812963|PMID:29850441|PMID:29859674|PMID:29879995|PMID:29886024|PMID:29936070|PMID:29944384|PMID:29951967|PMID:29970830|PMID:29983195|PMID:29995784|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30032850|PMID:30046002|PMID:30081288|PMID:30089726|PMID:30091983|PMID:30134826|PMID:30146269|PMID:30230364|PMID:30232781|PMID:30233781|PMID:30244528|PMID:30279124|PMID:30293248|PMID:30296588|PMID:30348612|PMID:30366773|PMID:30374031 12125759 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:30379828|PMID:30389601|PMID:30419605|PMID:30420730|PMID:30444886|PMID:30450785|PMID:30459277|PMID:30487145|PMID:30488522|PMID:30509709|PMID:30540547|PMID:30548586|PMID:30558651|PMID:30561903|PMID:30588852|PMID:30592194|PMID:30595473|PMID:30600261|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30617673|PMID:30661751|PMID:30698611|PMID:30726326|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30805437|PMID:30805499|PMID:30811104|PMID:30845638|PMID:30851139|PMID:30873022|PMID:30888834|PMID:30930780|PMID:30938940|PMID:30979466|PMID:30979683|PMID:30992994|PMID:30993151|PMID:30996306|PMID:31005549|PMID:31016917|PMID:31019283|PMID:31028937|PMID:31029283|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31127727|PMID:31130284|PMID:31131953|PMID:31136843|PMID:31159747|PMID:31180159|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31268981|PMID:31310009|PMID:31311920|PMID:31328366|PMID:31331863|PMID:31350925|PMID:31357024|PMID:31377750|PMID:31378749|PMID:31420175|PMID:31423445|PMID:31447099|PMID:31450232|PMID:31488014|PMID:31508243|PMID:31523618|PMID:31561038|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31697873|PMID:31709488|PMID:31759907|PMID:31776420|PMID:31788264|PMID:31788424|PMID:31808782|PMID:31844968|PMID:31845523|PMID:31848897|PMID:31872980|PMID:31882543|PMID:31883651|PMID:31893350|PMID:31916691|PMID:31940241|PMID:31978131|PMID:31980526|PMID:31990467|PMID:31992191|PMID:32003094|PMID:32003480|PMID:32017858|PMID:32020786|PMID:32025909|PMID:32026723|PMID:32084388|PMID:32113160|PMID:32126153|PMID:32143663|PMID:32150665|PMID:32155011|PMID:32172930|PMID:32185651|PMID:32204475|PMID:32227567|PMID:32244302|PMID:32256364|PMID:32281737|PMID:32292813|PMID:32352720|PMID:32357917|PMID:32387800|PMID:32414100|PMID:32429104|PMID:32442342|PMID:32483343|PMID:32484936|PMID:32512765|PMID:32539862|PMID:32563932|PMID:32596391|PMID:32630227|PMID:32662942|PMID:32674983|PMID:32687833|PMID:32719396|PMID:32730979|PMID:32734384|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32848127|PMID:32906206|PMID:32926152|PMID:32934006|PMID:32935393|PMID:32992607|PMID:33020115|PMID:33083013|PMID:33085659|PMID:33097431|PMID:33118704|PMID:33138251|PMID:33138774|PMID:33144682|PMID:33160331|PMID:33195651|PMID:33260873|PMID:33270637|PMID:33278322|PMID:33296276|PMID:33322690|PMID:33341408|PMID:33348555|PMID:33365035|PMID:33374015|PMID:33375403|PMID:33393655|PMID:33424627|PMID:33468668|PMID:33495079|PMID:33502066|PMID:33504063|PMID:33567498|PMID:33572515|PMID:33577586|PMID:33613790|PMID:33663443|PMID:33686728|PMID:33713579|PMID:33747920|PMID:33768849|PMID:33807078|PMID:33836782|PMID:33919435|PMID:33922413|PMID:33946859|PMID:33972190|PMID:34071719|PMID:34086412|PMID:34086689|PMID:34099697|PMID:34134972|PMID:34145097|PMID:34196078|PMID:34276759|PMID:34350279|PMID:34377682|PMID:34405919|PMID:34415821|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34680554|PMID:34714360|PMID:34782259|PMID:34888852|PMID:34931337|PMID:34949556|PMID:34964109|PMID:34973142|PMID:34974990|PMID:34995514|PMID:34996830|PMID:34998674|PMID:35011616|PMID:35096544|PMID:35109852|PMID:35273129|PMID:35313924|PMID:35365085|PMID:35387941|PMID:35418593|PMID:35527187|PMID:35585144|PMID:35626323|PMID:35698092|PMID:35913788|PMID:36174992|PMID:36567205|PMID:3716676|PMID:5371902|PMID:63921865|PMID:6963320|PMID:7472820|PMID:7475569|PMID:7477025|PMID:7493947|PMID:7504969|PMID:7504970|PMID:7505689|PMID:7505690|PMID:7505693|PMID:7505694|PMID:7505767|PMID:7506096|PMID:7506605|PMID:7508183|PMID:7508414|PMID:7509231|PMID:7509310|PMID:7509683|PMID:7509684|PMID:7509685|PMID:7512860|PMID:7512993|PMID:7513292|PMID:7513293|PMID:7513294|PMID:7513889|PMID:7515303|PMID:7516232|PMID:7516233|PMID:7516234|PMID:7516305|PMID:7517264|PMID:7517267|PMID:7517268|PMID:7518409|PMID:7518829|PMID:7519167|PMID:7520022|PMID:7520798|PMID:7520799|PMID:7521710|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7524909|PMID:7524910 12125759 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:7524913|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7526927|PMID:7526928|PMID:7526929|PMID:7527269|PMID:7529319|PMID:7529962|PMID:7530553|PMID:7530719|PMID:7531541|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7538127|PMID:7539080|PMID:7539210|PMID:7539342|PMID:754013|PMID:7540133|PMID:7540587|PMID:7541273|PMID:7541274|PMID:7541510|PMID:7542223|PMID:7542778|PMID:7543317|PMID:7543385|PMID:7543567|PMID:7544319|PMID:7544320|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550227|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581390|PMID:7581407|PMID:7586569|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7679367|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7682196|PMID:7682884|PMID:7682896|PMID:7682984|PMID:7683628|PMID:7683952|PMID:7683954|PMID:7684641|PMID:7684643|PMID:7684644|PMID:7684646|PMID:7686336|PMID:7686423|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7689897|PMID:7689898|PMID:7689902|PMID:7691344|PMID:7691345|PMID:7691352|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7694298|PMID:7723568|PMID:7739684|PMID:7757078|PMID:7789957|PMID:7868128|PMID:7881429|PMID:8081395|PMID:8092189|PMID:8097485|PMID:8100293|PMID:8163293|PMID:8213163|PMID:8262525|PMID:8343799|PMID:8406518|PMID:8421472|PMID:8445619|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8530001|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8563237|PMID:8605891|PMID:8627844|PMID:8644755|PMID:8659542|PMID:8662892|PMID:8663008|PMID:8680406|PMID:8680407|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8723693|PMID:8723694|PMID:8723695|PMID:8740923|PMID:8741733|PMID:8818956|PMID:8825494|PMID:8825927|PMID:8829633|PMID:8829643|PMID:8834261|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8865181|PMID:8880589|PMID:8880910|PMID:8886242|PMID:8889582|PMID:8910333|PMID:8922636|PMID:8947061|PMID:8956039|PMID:8968585|PMID:8992448|PMID:9003498|PMID:9003508|PMID:9017943|PMID:9039981|PMID:9043501|PMID:9043706|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9084934|PMID:9099843|PMID:9101293|PMID:9101301|PMID:9108869|PMID:9135274|PMID:9150159|PMID:9150843|PMID:9163660|PMID:9164051|PMID:9222768|PMID:9235853|PMID:9239681|PMID:9252549|PMID:9254853|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9298826|PMID:9305991|PMID:9321772|PMID:9345100|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9401006|PMID:9401110|PMID:9417117|PMID:9429141|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9452054|PMID:9452112|PMID:9459003|PMID:9459534|PMID:9482579|PMID:9493456|PMID:9499426|PMID:9507391|PMID:9512029|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9550362|PMID:9554753|PMID:9557894|PMID:9598638|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9678705|PMID:9683582|PMID:9691989|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9797105|PMID:9799593|PMID:9804160|PMID:9806422|PMID:9822639|PMID:9842999|PMID:9849891|PMID:9853928|PMID:9881185|PMID:9895335|PMID:9915972|PMID:9917439|PMID:9920885|PMID:9921909|PMID:9922378|PMID:9950364|PMID:9950763 12125759 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis disease_progression ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:17099022|REF_RGD_ID:4140392 12125759 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis no_association ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:mutation:exon:p.R117H(human) PMID:19880712|REF_RGD_ID:4140393 12125759 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis severity ISO RGD:619566 D RGD:9068941 20200609 RGD DNA,protein:mutations,substitutions:exon: PMID:2344617|REF_RGD_ID:4140394 12125759 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis severity ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:insertion:exon:c.3904_3905insT (human) PMID:9254853|REF_RGD_ID:4140401 12125759 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis severity ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.W1282X(human) PMID:1370365|REF_RGD_ID:4140436 12125759 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis severity ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.F508C, S1251N PMID:1284535|REF_RGD_ID:4140438 12125759 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis severity ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:nonsense mutation:cds;c. 2143delT (human) PMID:1283149|REF_RGD_ID:4140439 12125759 CFTR CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis severity ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:splice-site mutation:intron: 3272-26A>G (human) PMID:11732487|REF_RGD_ID:4140450 12125759 CFTR CF transmembrane conductance regulator gene DOID:1724 duodenal ulcer ISO RGD:2332 D RGD:9068941 20200609 RGD PMID:15905414|REF_RGD_ID:1599596 12125759 CFTR CF transmembrane conductance regulator gene DOID:1793 pancreatic cancer no_association ISO RGD:619566 D RGD:9068941 20200609 RGD PMID:17072959|REF_RGD_ID:2317157 12125759 CFTR CF transmembrane conductance regulator gene DOID:1793 pancreatic cancer onset ISO RGD:619566 D RGD:9068941 20200609 RGD PMID:16227367|REF_RGD_ID:2317156 12125759 CFTR CF transmembrane conductance regulator gene DOID:2841 asthma susceptibility ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:deletion: :p.F508del(human) PMID:20298391|REF_RGD_ID:4140387 12125759 CFTR CF transmembrane conductance regulator gene DOID:303 substance-related disorder ISO RGD:619566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12125759 CFTR CF transmembrane conductance regulator gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.M470V(human) PMID:18652532|REF_RGD_ID:4140431 12125759 CFTR CF transmembrane conductance regulator gene DOID:3225 tracheal disease ISO RGD:10331 D RGD:9068941 20200609 RGD DNA:deletion,mutation: : PMID:18450781|REF_RGD_ID:4140433 12125759 CFTR CF transmembrane conductance regulator gene DOID:4450 renal cell carcinoma ISO RGD:619566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:28492532 12125759 CFTR CF transmembrane conductance regulator gene DOID:4483 rhinitis ISO RGD:619566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16083808 12125759 CFTR CF transmembrane conductance regulator gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:619566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12125759 CFTR CF transmembrane conductance regulator gene DOID:4988 alcoholic pancreatitis ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.L1156F, Q1352H (human) PMID:26089335|REF_RGD_ID:11566036 12125759 CFTR CF transmembrane conductance regulator gene DOID:4989 pancreatitis ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pancreatitis | ClinVar Annotator: match by term: Recurrent pancreatitis PMID:10103316|PMID:10425036|PMID:10601093|PMID:10782933|PMID:10801389|PMID:10869121|PMID:10875853|PMID:10950058|PMID:10963013|PMID:11168024|PMID:11186891|PMID:11280952|PMID:11354633|PMID:11547256|PMID:11733566|PMID:11924117|PMID:12014388|PMID:12127423|PMID:12400067|PMID:12759680|PMID:1370875|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1381146|PMID:1384321|PMID:14618962|PMID:15097853|PMID:15141088|PMID:15151509|PMID:15246977|PMID:1536179|PMID:15367919|PMID:15371902|PMID:15463907|PMID:15482777|PMID:15640323|PMID:15857421|PMID:15905293|PMID:16075239|PMID:16283887|PMID:16478680|PMID:1673094|PMID:17003641|PMID:17035430|PMID:17048214|PMID:1715308|PMID:17175965|PMID:17206681|PMID:1723032|PMID:1756602|PMID:17572159|PMID:17594397|PMID:17681820|PMID:17692578|PMID:18178635|PMID:18180206|PMID:18234567|PMID:18394117|PMID:18456578|PMID:18501000|PMID:18507830|PMID:18796364|PMID:19176844|PMID:19227414|PMID:19318346|PMID:19459534|PMID:19837664|PMID:19878303|PMID:19885835|PMID:19925455|PMID:1997384|PMID:20021716|PMID:20116881|PMID:20301295|PMID:20301428|PMID:20460946|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20667826|PMID:20687163|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20837875|PMID:20977904|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21228398|PMID:21411740|PMID:21486785|PMID:21520337|PMID:21594800|PMID:21658649|PMID:21804385|PMID:21907281|PMID:21965669|PMID:21976147|PMID:21983488|PMID:22020151|PMID:2210767|PMID:2220803|PMID:22332135|PMID:2233932|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22449949|PMID:22569626|PMID:22591852|PMID:22658665|PMID:22680785|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22999299|PMID:2300168|PMID:23067305|PMID:23104983|PMID:23168765|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23436935|PMID:23613805|PMID:23656801|PMID:23721890|PMID:23751316|PMID:23781395|PMID:2378364|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24375076|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24451227|PMID:24559724|PMID:24696795|PMID:24727426|PMID:2475911|PMID:24958810|PMID:24973281|PMID:25033378|PMID:25042876|PMID:25148434|PMID:25330774|PMID:25608981|PMID:25636364|PMID:25697321|PMID:2570460|PMID:25741868|PMID:25741869|PMID:25763566|PMID:25797027|PMID:25824995|PMID:25910067|PMID:25981758|PMID:26006199|PMID:26095523|PMID:26149808|PMID:26436105|PMID:26467025|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26648081|PMID:26708955|PMID:26800689|PMID:26911355|PMID:26976279|PMID:26989879|PMID:27171515|PMID:27298017|PMID:27334259|PMID:27469177|PMID:27577878|PMID:27660821|PMID:27673710|PMID:27738188|PMID:27787503|PMID:27805836|PMID:27898234|PMID:28129809|PMID:28325531|PMID:28492530|PMID:28492532|PMID:28603918|PMID:28606620|PMID:28617084|PMID:28930490|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29261177|PMID:29292091|PMID:29327948|PMID:29431110|PMID:29451946|PMID:29589582|PMID:29614238|PMID:29668297|PMID:29754320|PMID:29779145|PMID:29805046|PMID:29944384|PMID:30030066|PMID:30089726|PMID:30230364|PMID:30279124|PMID:30487145|PMID:30600599|PMID:30602999|PMID:30609409|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31310009|PMID:31350925|PMID:31447099|PMID:31523618|PMID:31589614|PMID:31788424|PMID:31980526|PMID:31990467|PMID:32429104|PMID:32761997|PMID:33083013|PMID:33118704|PMID:33144682|PMID:33270637|PMID:33365035|PMID:33375403|PMID:33468668|PMID:33572515|PMID:33713579|PMID:34405919|PMID:34426522|PMID:7517267|PMID:7533604|PMID:7537148|PMID:7540133|PMID:7560099|PMID:7691813|PMID:7789957|PMID:8092189|PMID:8605891|PMID:8659542|PMID:8740923|PMID:8844211|PMID:8886242|PMID:9135274|PMID:9235853|PMID:9272157|PMID:9272738|PMID:9439669|PMID:9493456|PMID:9618063|PMID:9921909 12125759 CFTR CF transmembrane conductance regulator gene DOID:5223 infertility ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Infertility PMID:10439967|PMID:10801389|PMID:10869121|PMID:10875853|PMID:10970190|PMID:11025834|PMID:11168024|PMID:11303517|PMID:11354633|PMID:11845002|PMID:11883825|PMID:11938439|PMID:12014388|PMID:12127423|PMID:12167682|PMID:12454843|PMID:12752573|PMID:1284535|PMID:1379210|PMID:1384326|PMID:15097853|PMID:15463907|PMID:15537723|PMID:15619635|PMID:15727251|PMID:15857421|PMID:15858154|PMID:16134171|PMID:16193325|PMID:16484308|PMID:17003641|PMID:17489851|PMID:17572159|PMID:17594397|PMID:17681820|PMID:18178635|PMID:18195584|PMID:18501000|PMID:18687795|PMID:19092444|PMID:19587087|PMID:1977306|PMID:20021716|PMID:20460946|PMID:20706124|PMID:20837875|PMID:20932301|PMID:21184098|PMID:21198395|PMID:21499205|PMID:21520337|PMID:21658649|PMID:21804385|PMID:22020151|PMID:22271776|PMID:22427236|PMID:22658665|PMID:22678879|PMID:22975760|PMID:23613805|PMID:23716676|PMID:23721890|PMID:23791427|PMID:23846440|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24418186|PMID:24451227|PMID:24586523|PMID:24631642|PMID:25033378|PMID:25287046|PMID:25346962|PMID:25741868|PMID:25797027|PMID:25824995|PMID:25910067|PMID:25963003|PMID:26436105|PMID:26467025|PMID:26538069|PMID:26708955|PMID:26898888|PMID:26900683|PMID:26911355|PMID:27171515|PMID:27214204|PMID:27738188|PMID:27787503|PMID:28129809|PMID:28492532|PMID:28544683|PMID:28603918|PMID:28830496|PMID:29589582|PMID:29805046|PMID:30488522|PMID:31088717|PMID:31488014|PMID:31916691|PMID:31990467|PMID:32784480|PMID:33572515|PMID:33768849|PMID:33946859|PMID:34995514|PMID:34996830|PMID:7508183|PMID:7513293|PMID:7517264|PMID:7525963|PMID:7543317|PMID:7682884|PMID:7686336|PMID:7691344|PMID:8605891|PMID:8644755|PMID:9108869|PMID:9272157|PMID:9439669|PMID:9804160|PMID:9921909 12125759 CFTR CF transmembrane conductance regulator gene DOID:5419 schizophrenia ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12125759 CFTR CF transmembrane conductance regulator gene DOID:5733 salpingitis ISO RGD:10331 D RGD:9068941 20200609 RGD PMID:19012687|REF_RGD_ID:11566047 12125759 CFTR CF transmembrane conductance regulator gene DOID:5733 salpingitis ISO RGD:619566 D RGD:9068941 20200609 RGD PMID:19012687|REF_RGD_ID:11566047 12125759 CFTR CF transmembrane conductance regulator gene DOID:5733 salpingitis treatment ISO RGD:2332 D RGD:9068941 20200609 RGD PMID:19012687|REF_RGD_ID:11566047 12125759 CFTR CF transmembrane conductance regulator gene DOID:5844 myocardial infarction ISO RGD:10331 D RGD:9068941 20200609 RGD associated with Myocardial Reperfusion Injury PMID:23221371|REF_RGD_ID:11566046 12125759 CFTR CF transmembrane conductance regulator gene DOID:630 genetic disease ISO RGD:619566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10103316|PMID:10200050|PMID:10376575|PMID:10425036|PMID:10556281|PMID:10639207|PMID:10668931|PMID:10782933|PMID:10875853|PMID:10923036|PMID:10950058|PMID:10963013|PMID:11069835|PMID:11186891|PMID:11280952|PMID:11354633|PMID:11491164|PMID:11547256|PMID:11729110|PMID:11733566|PMID:11796591|PMID:11924117|PMID:12400067|PMID:12503104|PMID:12767731|PMID:1370365|PMID:1370875|PMID:1377276|PMID:1379413|PMID:1380673|PMID:1381146|PMID:1381723|PMID:1384321|PMID:14551163|PMID:14618962|PMID:14685937|PMID:14993601|PMID:15070876|PMID:15141088|PMID:1518030|PMID:15246977|PMID:15287992|PMID:1536179|PMID:15367919|PMID:15371902|PMID:15480987|PMID:15482777|PMID:15640323|PMID:15905293|PMID:16020494|PMID:16075239|PMID:16263954|PMID:16272798|PMID:16283068|PMID:16283887|PMID:16478680|PMID:1673094|PMID:16778595|PMID:1682496|PMID:16840743|PMID:1695717|PMID:16980811|PMID:17003641|PMID:17035430|PMID:17048214|PMID:1715308|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1723032|PMID:17234733|PMID:17314234|PMID:17329263|PMID:17475917|PMID:17489851|PMID:1756602|PMID:17576681|PMID:17692578|PMID:18178635|PMID:18180206|PMID:18234567|PMID:18394117|PMID:18456578|PMID:18507830|PMID:18567645|PMID:18639722|PMID:18685558|PMID:18796364|PMID:19092437|PMID:19176844|PMID:19227414|PMID:19339519|PMID:19459534|PMID:19837664|PMID:19878303|PMID:19885835|PMID:19925455|PMID:1997384|PMID:20021716|PMID:20031113|PMID:20116881|PMID:20301295|PMID:20301428|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20977904|PMID:21097845|PMID:21111762|PMID:21152102|PMID:21228398|PMID:21411740|PMID:21416780|PMID:21486785|PMID:21520337|PMID:21594800|PMID:21658649|PMID:21783433|PMID:21907281|PMID:21965669|PMID:21976147|PMID:21983488|PMID:22020151|PMID:2210767|PMID:2210768|PMID:2220803|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22449949|PMID:22569626|PMID:22658665|PMID:22680785|PMID:22842702|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22999299|PMID:2300168|PMID:23067305|PMID:23104983|PMID:23168765|PMID:23276700|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23436935|PMID:2344617|PMID:23656801|PMID:23751316|PMID:23781395|PMID:2378364|PMID:23810505|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24243928|PMID:24375076|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24451227|PMID:24559724|PMID:24586523|PMID:24631642|PMID:24696795|PMID:24727426|PMID:2475911|PMID:24958810|PMID:24973281|PMID:25033378|PMID:25042876|PMID:25087612|PMID:25148434|PMID:25251442|PMID:25330774|PMID:25333069|PMID:25383785|PMID:25525159|PMID:25580864|PMID:25608981|PMID:25636364|PMID:25697321|PMID:2570460|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25763566|PMID:25797027|PMID:25981758|PMID:26006199|PMID:26095523|PMID:26149808|PMID:26199320|PMID:26354092|PMID:26467025|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26648081|PMID:26800689|PMID:26911355|PMID:26976279|PMID:26989879|PMID:27026144|PMID:27171515|PMID:27298017|PMID:27334259|PMID:27447098|PMID:27469177|PMID:27577878|PMID:27660821|PMID:27673710|PMID:27707539|PMID:27738188|PMID:27805836|PMID:27895116|PMID:27898234|PMID:28129809|PMID:28152038|PMID:28325531|PMID:28475858|PMID:28492530|PMID:28492532|PMID:28603918|PMID:28606620|PMID:28617084|PMID:28930490|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29174009|PMID:29261177|PMID:29298718|PMID:29327948|PMID:29431110|PMID:29451946|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29805046|PMID:29944384|PMID:29997923|PMID:30030066|PMID:30089726|PMID:30279124|PMID:30487145|PMID:30600599|PMID:30602999|PMID:30609409|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31126253|PMID:31130284|PMID:31180159|PMID:31187952|PMID:31199594|PMID:31310009|PMID:31447099|PMID:31523618|PMID:31589614|PMID:31682332|PMID:31788424|PMID:31980526|PMID:32281737|PMID:32429104|PMID:32761997 12125759 CFTR CF transmembrane conductance regulator gene DOID:630 genetic disease ISO RGD:619566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:32773111|PMID:33083013|PMID:33118704|PMID:33144682|PMID:33270637|PMID:33322690|PMID:33365035|PMID:33713579|PMID:34196078|PMID:34426522|PMID:7506096|PMID:7517267|PMID:7520798|PMID:7525450|PMID:7533604|PMID:7537148|PMID:7540133|PMID:7545856|PMID:7560099|PMID:7573058|PMID:7684641|PMID:7684646|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7693946|PMID:7739684|PMID:7789957|PMID:8092189|PMID:8556303|PMID:8659542|PMID:8740923|PMID:8825494|PMID:8844211|PMID:8886242|PMID:9067754|PMID:9135274|PMID:9150159|PMID:9235853|PMID:9272157|PMID:9272738|PMID:9435322|PMID:9439669|PMID:9493456|PMID:9536098|PMID:9618063|PMID:9630075|PMID:9725922|PMID:9806422 12125759 CFTR CF transmembrane conductance regulator gene DOID:693 dental enamel hypoplasia ISO RGD:2332 D RGD:9068941 20210528 RGD PMID:31942562|REF_RGD_ID:126928119 12125759 CFTR CF transmembrane conductance regulator gene DOID:8469 influenza treatment ISO RGD:10331 D RGD:9068941 20200716 RGD PMID:23749967|REF_RGD_ID:35673331 12125759 CFTR CF transmembrane conductance regulator gene DOID:850 lung disease ISO RGD:619566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung disease, non-specific PMID:10445602|PMID:10653141|PMID:10653145|PMID:10875853|PMID:10922395|PMID:10950058|PMID:12127423|PMID:12454843|PMID:12719375|PMID:12940920|PMID:1379210|PMID:14872121|PMID:15151509|PMID:1545465|PMID:15463907|PMID:15536480|PMID:15705292|PMID:15858154|PMID:15987793|PMID:16049310|PMID:16128988|PMID:16189704|PMID:16251901|PMID:16339147|PMID:16741161|PMID:16915933|PMID:17035430|PMID:17098482|PMID:17098864|PMID:1710599|PMID:17235394|PMID:17329263|PMID:17331079|PMID:17413420|PMID:17489851|PMID:17662673|PMID:18193900|PMID:18306312|PMID:18456578|PMID:18716917|PMID:18951463|PMID:19812525|PMID:19910374|PMID:20021716|PMID:20167849|PMID:20460946|PMID:20538955|PMID:20706124|PMID:20977904|PMID:21131649|PMID:21520337|PMID:22427236|PMID:22678879|PMID:22995991|PMID:23420618|PMID:23751316|PMID:23781395|PMID:23846440|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24451227|PMID:24586523|PMID:24624459|PMID:25033378|PMID:25060775|PMID:25489051|PMID:25492507|PMID:25569187|PMID:25741868|PMID:25797027|PMID:25824995|PMID:25826586|PMID:25910067|PMID:26014425|PMID:26089335|PMID:26100556|PMID:26335950|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26500004|PMID:26574590|PMID:26856995|PMID:26990548|PMID:27264265|PMID:27555793|PMID:28194692|PMID:28392015|PMID:28469871|PMID:28492532|PMID:28603918|PMID:28801929|PMID:29174009|PMID:29504914|PMID:29589582|PMID:29805046|PMID:30763667|PMID:30845638|PMID:30888834|PMID:30979466|PMID:31005549|PMID:31213628|PMID:31350925|PMID:31378749|PMID:31674704|PMID:31916691|PMID:32155011|PMID:32357917|PMID:32773111|PMID:32784480|PMID:32819855|PMID:33020115|PMID:33097431|PMID:33144682|PMID:33260873|PMID:33341408|PMID:33374015|PMID:33572515|PMID:33613790|PMID:33946859|PMID:34145097|PMID:34350279|PMID:34405919|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34680554|PMID:34888852|PMID:34974990|PMID:34996830|PMID:35011616|PMID:35096544|PMID:35418593|PMID:35527187|PMID:35585144|PMID:35626323|PMID:7475569|PMID:7526685|PMID:7529962|PMID:7537150|PMID:7543317|PMID:7739684|PMID:8644755|PMID:9272157|PMID:9797105|PMID:9921909 12125759 CFTR CF transmembrane conductance regulator gene DOID:850 lung disease disease_progression ISO RGD:619566 D RGD:9068941 20200609 RGD associated with cystic fibrosis; DNA:mutations: : PMID:19952026|REF_RGD_ID:4140390 12125759 CFTR CF transmembrane conductance regulator gene DOID:850 lung disease onset ISO RGD:619566 D RGD:9068941 20200609 RGD associated with cystic fibrosis; DNA:mutation:exon:p.R347P (human) PMID:8535440|REF_RGD_ID:4140448 12125759 CFTR CF transmembrane conductance regulator gene DOID:850 lung disease severity ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:missense mutation:exon: p.D1152H (human) PMID:19843100|REF_RGD_ID:4140397 12125759 CFTR CF transmembrane conductance regulator gene DOID:850 lung disease severity ISO RGD:619566 D RGD:9068941 20200609 RGD associated with cystic fibrosis; DNA:mutation: :p.A455E (human) PMID:7539891|REF_RGD_ID:4140446 12125759 CFTR CF transmembrane conductance regulator gene DOID:850 lung disease severity ISO RGD:619566 D RGD:9068941 20200609 RGD associated with cystic fibrosis;DNA:nonsense mutation: :p.R1162X (human) PMID:1381442|REF_RGD_ID:4140441 12125759 CFTR CF transmembrane conductance regulator gene DOID:899 choledochal cyst ISO RGD:619566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 12125759 CFTR CF transmembrane conductance regulator gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:10331 D RGD:9068941 20200716 RGD PMID:28289144|REF_RGD_ID:36049750 12125759 CFTR CF transmembrane conductance regulator gene DOID:9002278 Metabolic Bone Diseases ISO RGD:10331 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:deletion: :p.F508del (mouse) PMID:20570219|REF_RGD_ID:11566031 12125759 CFTR CF transmembrane conductance regulator gene DOID:9003145 Nuchal Bleb, Familial ISO RGD:619566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal cystic hygroma PMID:12815607|PMID:16199547|PMID:1695717|PMID:20059485|PMID:23974870|PMID:25741868|PMID:27240813|PMID:28492532|PMID:29879995|PMID:31036917|PMID:31131953|PMID:32357917|PMID:7683952|PMID:7691345|PMID:9239681|PMID:9725922 12125759 CFTR CF transmembrane conductance regulator gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:18703788|PMID:19858235|REF_RGD_ID:4140395|REF_RGD_ID:4140430 12125759 CFTR CF transmembrane conductance regulator gene DOID:9004729 Nontuberculous Mycobacterium Infections susceptibility ISO RGD:619566 D RGD:9068941 20200716 RGD DNA:SNP:cds:rs113857788(p.Q1352H)(human) PMID:23514810|REF_RGD_ID:36049751 12125759 CFTR CF transmembrane conductance regulator gene DOID:9005643 Experimental Diabetes Mellitus severity ISO RGD:10331 D RGD:9068941 20200609 RGD PMID:16804061|REF_RGD_ID:2314614 12125759 CFTR CF transmembrane conductance regulator gene DOID:9006190 Chronic Pancreatitis ISO RGD:619566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206817 12125759 CFTR CF transmembrane conductance regulator gene DOID:9006599 Hypertriglyceridemia ISO RGD:619566 D RGD:9068941 20200609 RGD associated with Pancreatitis;DNA:missense mutation, haplotype: :p.I556V (human) PMID:17981921|REF_RGD_ID:11566035 12125759 CFTR CF transmembrane conductance regulator gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:619566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:28492532 12125759 CFTR CF transmembrane conductance regulator gene DOID:9007417 Pseudomonas Infections ISO RGD:10331 D RGD:9068941 20200716 RGD PMID:11390493|PMID:15039325|REF_RGD_ID:36049749|REF_RGD_ID:36049752 12125759 CFTR CF transmembrane conductance regulator gene DOID:9007651 Chronic Bronchitis ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:deletion: :F508del(human) PMID:10767489|REF_RGD_ID:4140484 12125759 CFTR CF transmembrane conductance regulator gene DOID:9007651 Chronic Bronchitis susceptibility ISO RGD:619566 D RGD:9068941 20200609 RGD associated with pulmonary disease chronic obstructive; DNA:missense mutation:exon:p.R75Q(human) PMID:15463907|REF_RGD_ID:4140475 12125759 CFTR CF transmembrane conductance regulator gene DOID:9008443 Colorectal Neoplasms ISO RGD:619566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12125759 CFTR CF transmembrane conductance regulator gene DOID:9008691 Liver Injury treatment ISO RGD:619566 D RGD:9068941 20200609 RGD associated with hyperhomocysteinemia, human gene in a mouse model PMID:29415998|REF_RGD_ID:25671444 12125759 CFTR CF transmembrane conductance regulator gene DOID:9008939 Breast Neoplasms ISO RGD:619566 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:10925568|PMID:12874665|PMID:15905293|PMID:17539902|PMID:25580864|PMID:25741868|PMID:25869325|PMID:26199320|PMID:26467025|PMID:27081564|PMID:27143075|PMID:27171515|PMID:27717243|PMID:28492532|PMID:28502372|PMID:28608624|PMID:29997923|PMID:30379828|PMID:30811104|PMID:31423445|PMID:32777524|PMID:34276759|PMID:35313924 12125759 CFTR CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:7240710 20180130 OMIM 12125759 CFTR CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:10026154|PMID:10077727|PMID:10103316|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10425036|PMID:10439967|PMID:10445602|PMID:10447267|PMID:10480369|PMID:10556281|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10605524|PMID:10636451|PMID:10639207|PMID:10652351|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10719683|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10782933|PMID:10790222|PMID:10794365|PMID:10798368|PMID:10801389|PMID:10812063|PMID:10819640|PMID:10834512|PMID:10836331|PMID:10869121|PMID:10875853|PMID:10875876|PMID:10878476|PMID:10909845|PMID:10922395|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10980579|PMID:11001817|PMID:11005149|PMID:11025834|PMID:11055897|PMID:11069835|PMID:11101688|PMID:11137998|PMID:11168024|PMID:11180668|PMID:11186891|PMID:11242048|PMID:11278813|PMID:11280952|PMID:11303517|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11390899|PMID:11427889|PMID:11430710|PMID:11446424|PMID:11448786|PMID:11462247|PMID:11466205|PMID:11484207|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11788091|PMID:11796434|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938439|PMID:11950844|PMID:12007216|PMID:12014388|PMID:12070257|PMID:12080183|PMID:12116247|PMID:12120234|PMID:12127423|PMID:12151438|PMID:12166651|PMID:12167682|PMID:12172395|PMID:12200467|PMID:12397022|PMID:12400067|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12578973|PMID:12624947|PMID:12658038|PMID:12719375|PMID:12732620|PMID:12752573|PMID:12759680|PMID:12767731|PMID:12815607|PMID:1283148|PMID:12843327|PMID:1284477|PMID:1284530|PMID:1284534|PMID:1284535|PMID:1284538|PMID:1284540|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12919146|PMID:12938099|PMID:12940920|PMID:12952861|PMID:12955726|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1373935|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1380943|PMID:1381146|PMID:1381442|PMID:1381723|PMID:1382316|PMID:1384321|PMID:1384326|PMID:1384328|PMID:14526128|PMID:14586256|PMID:14618962|PMID:14685937|PMID:14872121|PMID:14963811|PMID:14993601|PMID:14998948|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15246977|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:1536179|PMID:15365999|PMID:15367919|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371907|PMID:1545465|PMID:15463840|PMID:15463866|PMID:15463888|PMID:15463907|PMID:15463919|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15520400|PMID:15536480|PMID:15614862|PMID:15619635|PMID:15638824|PMID:15640323|PMID:15645635|PMID:15681482|PMID:15698945|PMID:15698946|PMID:15705292|PMID:15716623|PMID:15738290|PMID:15744517|PMID:15744523|PMID:15758663|PMID:15772171|PMID:15775704|PMID:15776432|PMID:15784035|PMID:15829248|PMID:15857421|PMID:15858154|PMID:15905293|PMID:15948195|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16128988|PMID:16132229|PMID:16134171|PMID:16141195|PMID:16187186|PMID:16189704|PMID:16193325|PMID:16199547|PMID:16244288|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16362824|PMID:16435054|PMID:16436643|PMID:16442101|PMID:16443646|PMID:16478680|PMID:16481891|PMID:16484308|PMID:16488363|PMID:16499810|PMID:16596947|PMID:16617247|PMID:16635477|PMID:16678503|PMID:1673094|PMID:16741161|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16786510|PMID:16801189|PMID:1682496|PMID:16840743|PMID:16915933|PMID:16931591|PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641|PMID:17015492|PMID:17020467|PMID:17020473|PMID:17035430 12125759 CFTR CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:17048214|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1712898|PMID:1715308|PMID:1716180|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1722350|PMID:1723032|PMID:17235394|PMID:17272608|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17353351|PMID:17380060|PMID:17413420|PMID:17448246|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17516627|PMID:17539902|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17580535|PMID:17591940|PMID:17594397|PMID:17594398|PMID:17662673|PMID:17663888|PMID:17681820|PMID:17692578|PMID:17718859|PMID:17719933|PMID:17850636|PMID:17890437|PMID:17949679|PMID:17968991|PMID:17975025|PMID:18078365|PMID:18178635|PMID:18180206|PMID:18193900|PMID:18195584|PMID:18230692|PMID:18234567|PMID:18304229|PMID:18305154|PMID:18306312|PMID:18373402|PMID:18394117|PMID:18421494|PMID:18449561|PMID:18455968|PMID:18456578|PMID:18501000|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18639722|PMID:18685558|PMID:18687795|PMID:18703181|PMID:18703788|PMID:18716917|PMID:18778819|PMID:18796364|PMID:18937943|PMID:18951463|PMID:19014821|PMID:19017867|PMID:19019741|PMID:1903761|PMID:19092437|PMID:19092444|PMID:19176844|PMID:19181854|PMID:19202204|PMID:19227414|PMID:19236881|PMID:19265749|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19359498|PMID:1937486|PMID:19383231|PMID:1944451|PMID:19459534|PMID:19491324|PMID:19550280|PMID:19625452|PMID:19652440|PMID:19710401|PMID:19734299|PMID:1977306|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19845690|PMID:19846789|PMID:19878303|PMID:19880712|PMID:19883345|PMID:19885835|PMID:19893581|PMID:19897426|PMID:19914431|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20052366|PMID:20059485|PMID:20100616|PMID:20116881|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20217271|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20381036|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20512161|PMID:20522854|PMID:20538955|PMID:20551465|PMID:20558957|PMID:20571109|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20651897|PMID:20657600|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20879059|PMID:20880762|PMID:20920895|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20952391|PMID:20977904|PMID:20981092|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:2135388|PMID:21388895|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21486785|PMID:21499205|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21594800|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21708286|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:22148899|PMID:2220803|PMID:22210114|PMID:22271776|PMID:22293084|PMID:22299590|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22439019|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22504961|PMID:22569626|PMID:22572128|PMID:22591852|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22724884|PMID:22768251|PMID:22842702|PMID:22892530|PMID:22942289|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22995991|PMID:22999299|PMID:2300168|PMID:23027855|PMID:23055971|PMID:23067305|PMID:23076339|PMID:23082198|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23261175|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23343000|PMID:23361109|PMID:23378595|PMID:23378603|PMID:23379606|PMID:23381846 12125759 CFTR CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23405520|PMID:23420618|PMID:23436935|PMID:2344617|PMID:23466340|PMID:23470247|PMID:2349952|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23555973|PMID:23590265|PMID:23613805|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23709221|PMID:23716676|PMID:23721890|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23810505|PMID:238191399|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:2395135|PMID:23951356|PMID:2397487|PMID:23974870|PMID:24033266|PMID:24058550|PMID:24066763|PMID:24081349|PMID:24129438|PMID:24204751|PMID:24243928|PMID:24269240|PMID:24272871|PMID:24375076|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24419263|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24517344|PMID:24525081|PMID:24559724|PMID:24586523|PMID:24624459|PMID:24631642|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25077647|PMID:25087612|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25192979|PMID:25203624|PMID:25251442|PMID:25266159|PMID:25274949|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25346962|PMID:25383785|PMID:25403292|PMID:25443471|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25569187|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:2565038|PMID:25651269|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25754095|PMID:25755212|PMID:25763566|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25900089|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26038974|PMID:26070913|PMID:26075213|PMID:26087176|PMID:26089335|PMID:26095523|PMID:26098992|PMID:26100556|PMID:26135562|PMID:26149808|PMID:26182300|PMID:26199320|PMID:26277102|PMID:26324139|PMID:26335950|PMID:26364555|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26500004|PMID:26538069|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26656651|PMID:26671754|PMID:26708955|PMID:26755536|PMID:26795017|PMID:26800689|PMID:26823392|PMID:26846474|PMID:26847993|PMID:26856995|PMID:26888287|PMID:26898888|PMID:26900683|PMID:26911355|PMID:26946416|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27081564|PMID:27086061|PMID:27143075|PMID:27158673|PMID:27171515|PMID:27214204|PMID:27222777|PMID:27264265|PMID:27298017|PMID:27324553|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27535533|PMID:27555793|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27660821|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27787503|PMID:27805836|PMID:27812499|PMID:27884173|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28027573|PMID:28040058|PMID:28129809|PMID:28194692|PMID:28261631|PMID:28325531|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28422754|PMID:28456595|PMID:28465863|PMID:28469871|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28711222|PMID:28736296|PMID:28784578|PMID:28801929|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28947035|PMID:28968805|PMID:28978796|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29133775|PMID:29168366|PMID:29173301|PMID:29174009|PMID:29178639|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29292091|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946 12125759 CFTR CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:29484681|PMID:29504914|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29727070|PMID:29754320|PMID:29779145|PMID:29805046|PMID:29807875|PMID:29859674|PMID:29936070|PMID:29944384|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30032850|PMID:30046002|PMID:30089726|PMID:30134826|PMID:30230364|PMID:30232781|PMID:30233781|PMID:30244528|PMID:30279124|PMID:30379828|PMID:30420730|PMID:30444886|PMID:30450785|PMID:30487145|PMID:30488522|PMID:30540547|PMID:30548586|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30698611|PMID:30758641|PMID:30763667|PMID:30805437|PMID:30811104|PMID:30845638|PMID:30873022|PMID:30888834|PMID:30938940|PMID:30979466|PMID:30992994|PMID:30996306|PMID:31005549|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31310009|PMID:31331863|PMID:31350925|PMID:31378749|PMID:31423445|PMID:31447099|PMID:31450232|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31759907|PMID:31788424|PMID:31808782|PMID:31844968|PMID:31845523|PMID:31848897|PMID:31872980|PMID:31883651|PMID:31916691|PMID:31940241|PMID:31978131|PMID:31980526|PMID:31990467|PMID:31992191|PMID:32025909|PMID:32113160|PMID:32143663|PMID:32150665|PMID:32155011|PMID:32172930|PMID:32185651|PMID:32204475|PMID:32256364|PMID:32281737|PMID:32357917|PMID:32387800|PMID:32429104|PMID:32484936|PMID:32512765|PMID:32662942|PMID:32687833|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32926152|PMID:33020115|PMID:33083013|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33260873|PMID:33270637|PMID:33341408|PMID:33348555|PMID:33365035|PMID:33374015|PMID:33375403|PMID:33393655|PMID:33468668|PMID:33502066|PMID:33572515|PMID:33577586|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33768849|PMID:33836782|PMID:33922413|PMID:33946859|PMID:33972190|PMID:34086689|PMID:34134972|PMID:34145097|PMID:34196078|PMID:34276759|PMID:34350279|PMID:34405919|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34680554|PMID:34888852|PMID:34974990|PMID:34996830|PMID:35011616|PMID:35096544|PMID:35109852|PMID:35313924|PMID:35418593|PMID:35527187|PMID:35585144|PMID:35626323|PMID:35698092|PMID:5371902|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7505693|PMID:7506096|PMID:7506605|PMID:7508183|PMID:7508414|PMID:7509310|PMID:7512860|PMID:7513889|PMID:7515303|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7529319|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7539080|PMID:7539210|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542778|PMID:7543317|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7679367|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7682884|PMID:7683628|PMID:7683952|PMID:7684641|PMID:7684646|PMID:7686336|PMID:7686577|PMID:7686820|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7691344|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8343799|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8605891|PMID:8627844|PMID:8659542|PMID:8662892|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582|PMID:8956039|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9099843|PMID:9101293|PMID:9108869|PMID:9135274|PMID:9150159|PMID:9163660|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157 12125759 CFTR CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9459003|PMID:9493456|PMID:9507391|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9557894|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9797105|PMID:9799593|PMID:9806422|PMID:9915972|PMID:9917439|PMID:9921909|PMID:9950364|PMID:9950763 12125759 CFTR CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis | ClinVar Annotator: match by term: Pancreatitis, idiopathic, susceptibility to PMID:10026154|PMID:10077727|PMID:10103316|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10425036|PMID:10439967|PMID:10445602|PMID:10447267|PMID:10480369|PMID:10556281|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10605524|PMID:10636451|PMID:10639207|PMID:10652351|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10719683|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10782933|PMID:10790222|PMID:10794365|PMID:10798368|PMID:10801389|PMID:10812063|PMID:10819640|PMID:10834512|PMID:10836331|PMID:10869121|PMID:10875853|PMID:10875876|PMID:10878476|PMID:10909845|PMID:10922395|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10980579|PMID:11001817|PMID:11005149|PMID:11025834|PMID:11055897|PMID:11069835|PMID:11101688|PMID:11137998|PMID:11168024|PMID:11180668|PMID:11186891|PMID:11242048|PMID:11278813|PMID:11280952|PMID:11303517|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11390899|PMID:11427889|PMID:11430710|PMID:11446424|PMID:11448786|PMID:11462247|PMID:11466205|PMID:11484207|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11585852|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11788091|PMID:11796434|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938439|PMID:11950844|PMID:12007216|PMID:12014388|PMID:12070257|PMID:12080183|PMID:12116247|PMID:12120234|PMID:12127423|PMID:12151438|PMID:12166651|PMID:12167682|PMID:12172395|PMID:12200467|PMID:12397022|PMID:12400067|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12521276|PMID:12578973|PMID:12624947|PMID:12658038|PMID:12719375|PMID:12732620|PMID:12752573|PMID:12759680|PMID:12767731|PMID:12815607|PMID:1283148|PMID:12843327|PMID:1284477|PMID:1284530|PMID:1284534|PMID:1284535|PMID:1284538|PMID:1284540|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12919146|PMID:12938099|PMID:12940920|PMID:12952861|PMID:12955726|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1373935|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1380943|PMID:1381146|PMID:1381442|PMID:1381723|PMID:1382316|PMID:1384321|PMID:1384326|PMID:1384328|PMID:14526128|PMID:14586256|PMID:14618962|PMID:14685937|PMID:14872121|PMID:14963811|PMID:14993601|PMID:14998948|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15246977|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371907|PMID:1545465|PMID:15463840|PMID:15463866|PMID:15463888|PMID:15463906|PMID:15463907|PMID:15463919|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15520400|PMID:15536480|PMID:15614862|PMID:15619635|PMID:15638824|PMID:15640323|PMID:15645635|PMID:15681482|PMID:15698945|PMID:15698946|PMID:15705292|PMID:15716623|PMID:15738290|PMID:15744517|PMID:15744523|PMID:15758663|PMID:15772171|PMID:15775704|PMID:15776432|PMID:15784035|PMID:15829248|PMID:15857421|PMID:15858154|PMID:15905293|PMID:15948195|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16128988|PMID:16132229|PMID:16134171|PMID:16141195|PMID:16187186|PMID:16189704|PMID:16193325|PMID:16199547|PMID:16244288|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16362824|PMID:16435054|PMID:16436643|PMID:16442101|PMID:16443646|PMID:16478680|PMID:16481891|PMID:16484308|PMID:16488363|PMID:16499810|PMID:16596947|PMID:16617247|PMID:16635477|PMID:16678503|PMID:1673094|PMID:16741161|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16786510|PMID:16801189|PMID:1682496|PMID:16840743|PMID:16915933|PMID:16931591|PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641 12125759 CFTR CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis | ClinVar Annotator: match by term: Pancreatitis, idiopathic, susceptibility to PMID:17015492|PMID:17020467|PMID:17020473|PMID:17035430|PMID:17048214|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1712898|PMID:1715308|PMID:1716180|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1722350|PMID:1723032|PMID:17235394|PMID:17272608|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17353351|PMID:17380060|PMID:17413420|PMID:17448246|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17516627|PMID:17539902|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17580535|PMID:17591940|PMID:17594397|PMID:17594398|PMID:17662673|PMID:17663888|PMID:17681820|PMID:17692578|PMID:17716958|PMID:17718859|PMID:17719933|PMID:17850636|PMID:17890437|PMID:17901983|PMID:17949679|PMID:17968991|PMID:17975025|PMID:18078365|PMID:18178635|PMID:18180206|PMID:18193900|PMID:18195584|PMID:18230692|PMID:18234567|PMID:18304229|PMID:18305154|PMID:18306312|PMID:18373402|PMID:18394117|PMID:18421494|PMID:18449561|PMID:18455968|PMID:18456578|PMID:18501000|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18639722|PMID:18685558|PMID:18687795|PMID:18703181|PMID:18703788|PMID:18716917|PMID:18778819|PMID:18782298|PMID:18796364|PMID:18937943|PMID:18951463|PMID:19014821|PMID:19017867|PMID:19019741|PMID:1903761|PMID:19092437|PMID:19092444|PMID:19176844|PMID:19181854|PMID:19202204|PMID:19227414|PMID:19236881|PMID:19265749|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19359498|PMID:1937486|PMID:19383231|PMID:1944451|PMID:19459534|PMID:19491324|PMID:19550280|PMID:19625452|PMID:19652440|PMID:19710401|PMID:19734299|PMID:1977306|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19845690|PMID:19846789|PMID:19878303|PMID:19880712|PMID:19883345|PMID:19885835|PMID:19893581|PMID:19897426|PMID:19914431|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20052365|PMID:20052366|PMID:20059485|PMID:20100616|PMID:20116881|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20301773|PMID:20381036|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20522854|PMID:20538955|PMID:20551465|PMID:20558957|PMID:20571109|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20651897|PMID:20657600|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20879059|PMID:20880762|PMID:20920895|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20952391|PMID:20977904|PMID:20981092|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:2135388|PMID:21388895|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21486785|PMID:21499205|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21594800|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21708286|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:22148899|PMID:2220803|PMID:22210114|PMID:22271776|PMID:22293084|PMID:22299590|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22438829|PMID:22439019|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22504961|PMID:22569626|PMID:22572128|PMID:22591852|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22724884|PMID:22768251|PMID:22842702|PMID:22892530|PMID:22942289|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22995991|PMID:22999299|PMID:2300168|PMID:23027855|PMID:23055971|PMID:23067305|PMID:23076339|PMID:23082198|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23261175|PMID:23276700|PMID:23286748 12125759 CFTR CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis | ClinVar Annotator: match by term: Pancreatitis, idiopathic, susceptibility to PMID:23302613|PMID:23313410|PMID:23343000|PMID:23361109|PMID:23378595|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23436935|PMID:2344617|PMID:23466340|PMID:23470247|PMID:2349952|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23555973|PMID:23590265|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23709221|PMID:23716676|PMID:23721890|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23810505|PMID:238191399|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:2395135|PMID:23951356|PMID:2397487|PMID:23974870|PMID:24033266|PMID:24058550|PMID:24066763|PMID:24081349|PMID:24129438|PMID:24204751|PMID:24243928|PMID:24269240|PMID:24272871|PMID:24375076|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24419263|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24517344|PMID:24525081|PMID:24559724|PMID:24586523|PMID:24624459|PMID:24631642|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25077647|PMID:25087612|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25192979|PMID:25203624|PMID:25251442|PMID:25266159|PMID:25274949|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25346962|PMID:25383785|PMID:25403292|PMID:25443471|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25569187|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:2565038|PMID:25651269|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25754095|PMID:25755212|PMID:25763566|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25900089|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26038974|PMID:26070913|PMID:26075213|PMID:26087176|PMID:26089335|PMID:26095523|PMID:26098992|PMID:26100556|PMID:26135562|PMID:26149808|PMID:26182300|PMID:26199320|PMID:26277102|PMID:26324139|PMID:26335950|PMID:26348465|PMID:26364555|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26500004|PMID:26538069|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26656651|PMID:26671754|PMID:26708955|PMID:26755536|PMID:26795017|PMID:26800689|PMID:26823392|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26856995|PMID:26888287|PMID:26898888|PMID:26900683|PMID:26911355|PMID:26946416|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27081564|PMID:27086061|PMID:27143075|PMID:27158673|PMID:27171515|PMID:27214204|PMID:27222777|PMID:27264265|PMID:27298017|PMID:27324553|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27535533|PMID:27555793|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27660821|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27787503|PMID:27805836|PMID:27812499|PMID:27884173|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28027573|PMID:28040058|PMID:28129809|PMID:28194692|PMID:28261631|PMID:28325531|PMID:28340353|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28422754|PMID:28440306|PMID:28456595|PMID:28465863|PMID:28469871|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28711222|PMID:28736296|PMID:28784578|PMID:28801929|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28947035|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29133775|PMID:29168366 12125759 CFTR CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis | ClinVar Annotator: match by term: Pancreatitis, idiopathic, susceptibility to PMID:29173301|PMID:29174009|PMID:29178639|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29292091|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29484681|PMID:29504914|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29727070|PMID:29754320|PMID:29779145|PMID:29805046|PMID:29807875|PMID:29859674|PMID:29936070|PMID:29944384|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30032850|PMID:30046002|PMID:30089726|PMID:30134826|PMID:30230364|PMID:30232781|PMID:30244528|PMID:30279124|PMID:30379828|PMID:30420730|PMID:30444886|PMID:30450785|PMID:30459277|PMID:30487145|PMID:30488522|PMID:30540547|PMID:30548586|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30698611|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30805437|PMID:30811104|PMID:30845638|PMID:30873022|PMID:30888834|PMID:30938940|PMID:30979466|PMID:30992994|PMID:30996306|PMID:31005549|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31310009|PMID:31331863|PMID:31350925|PMID:31378749|PMID:31423445|PMID:31447099|PMID:31450232|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31759907|PMID:31788424|PMID:31808782|PMID:31844968|PMID:31845523|PMID:31848897|PMID:31872980|PMID:31883651|PMID:31916691|PMID:31940241|PMID:31978131|PMID:31980526|PMID:31990467|PMID:31992191|PMID:32025909|PMID:32113160|PMID:32143663|PMID:32150665|PMID:32155011|PMID:32172930|PMID:32185651|PMID:32204475|PMID:32256364|PMID:32281737|PMID:32357917|PMID:32387800|PMID:32429104|PMID:32484936|PMID:32512765|PMID:32662942|PMID:32687833|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32926152|PMID:33020115|PMID:33083013|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33260873|PMID:33270637|PMID:33341408|PMID:33348555|PMID:33365035|PMID:33374015|PMID:33375403|PMID:33393655|PMID:33468668|PMID:33502066|PMID:33572515|PMID:33577586|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33768849|PMID:33836782|PMID:33922413|PMID:33946859|PMID:33972190|PMID:34086689|PMID:34134972|PMID:34145097|PMID:34196078|PMID:34276759|PMID:34350279|PMID:34405919|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34680554|PMID:34782259|PMID:34888852|PMID:34964109|PMID:34974990|PMID:34996830|PMID:35011616|PMID:35096544|PMID:35109852|PMID:35313924|PMID:35387941|PMID:35418593|PMID:35527187|PMID:35585144|PMID:35626323|PMID:35698092|PMID:5371902|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7505693|PMID:7506096|PMID:7506605|PMID:7508183|PMID:7508414|PMID:7509310|PMID:7512860|PMID:7513889|PMID:7515303|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7529319|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7539080|PMID:7539210|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542778|PMID:7543317|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7679367|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7682196|PMID:7682884|PMID:7683628|PMID:7683952|PMID:7684641|PMID:7684646|PMID:7686336|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7691344|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8343799|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8605891|PMID:8627844|PMID:8659542|PMID:8662892|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582|PMID:8947061|PMID:8956039 12125759 CFTR CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis | ClinVar Annotator: match by term: Pancreatitis, idiopathic, susceptibility to PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9099843|PMID:9101293|PMID:9108869|PMID:9135274|PMID:9150159|PMID:9163660|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9459003|PMID:9482579|PMID:9493456|PMID:9507391|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9557894|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9797105|PMID:9799593|PMID:9806422|PMID:9915972|PMID:9917439|PMID:9921909|PMID:9950364|PMID:9950763 12125759 CFTR CF transmembrane conductance regulator gene DOID:9009073 Diaphragmatic Hernia ISO RGD:619566 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16473863 12125759 CFTR CF transmembrane conductance regulator gene DOID:9563 bronchiectasis ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome PMID:10103316|PMID:10200050|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10388469|PMID:10401194|PMID:10425036|PMID:10439967|PMID:10445602|PMID:10556281|PMID:10571949|PMID:10601093|PMID:10636451|PMID:10639207|PMID:10653141|PMID:10653145|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10782933|PMID:10794365|PMID:10798368|PMID:10819640|PMID:10836331|PMID:10875853|PMID:10909845|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:11005149|PMID:11055897|PMID:11101688|PMID:11137998|PMID:11168024|PMID:11186891|PMID:11242048|PMID:11280952|PMID:11303517|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11427889|PMID:11448786|PMID:11466205|PMID:11484207|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11668613|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11796434|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11938439|PMID:12007216|PMID:12080183|PMID:12120234|PMID:12397022|PMID:12400067|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12578973|PMID:12624947|PMID:12719375|PMID:12732620|PMID:12767731|PMID:12815607|PMID:1283148|PMID:1284477|PMID:1284534|PMID:1284538|PMID:1284540|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12919146|PMID:12938099|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1373935|PMID:1376016|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1381146|PMID:1381442|PMID:1382316|PMID:1384321|PMID:1384328|PMID:14526128|PMID:14618962|PMID:14685937|PMID:14998948|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15097853|PMID:15126740|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15246977|PMID:15287992|PMID:15300780|PMID:15354332|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15463888|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15536480|PMID:15638824|PMID:15640323|PMID:15698945|PMID:15698946|PMID:15738290|PMID:15758663|PMID:15775704|PMID:15776432|PMID:15858154|PMID:15905293|PMID:15948195|PMID:15987793|PMID:15994263|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16132229|PMID:16189704|PMID:16199547|PMID:16251901|PMID:16266832|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16436643|PMID:16442101|PMID:16443646|PMID:16478680|PMID:16488363|PMID:16499810|PMID:16596947|PMID:16617247|PMID:1673094|PMID:16778407|PMID:1678049|PMID:16784904|PMID:16801189|PMID:1682496|PMID:16840743|PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641|PMID:17015492|PMID:17035430|PMID:17048214|PMID:1709778|PMID:17098482|PMID:1710599|PMID:1712898|PMID:1715308|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1723032|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17353351|PMID:17380060|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17516627|PMID:1756602|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17662673|PMID:17663888|PMID:17692578|PMID:17890437|PMID:17901983|PMID:17949679|PMID:18078365|PMID:18178635|PMID:18180206|PMID:18230692|PMID:18234567|PMID:18306312|PMID:18373402|PMID:18394117|PMID:18421494|PMID:18449561|PMID:18456578|PMID:18507830|PMID:18556774|PMID:18639722|PMID:18687795|PMID:18716917|PMID:18778819|PMID:18796364|PMID:18951463|PMID:19092437|PMID:19176844|PMID:19181854|PMID:19202204|PMID:19227414|PMID:19265749|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19359498|PMID:1937486|PMID:19459534|PMID:19491324|PMID:19550280|PMID:19625452|PMID:19652440|PMID:19734299|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19845690|PMID:19846789|PMID:19878303|PMID:19880712|PMID:19885835|PMID:19897426|PMID:19914431|PMID:19925455|PMID:1997384|PMID:1999830|PMID:20021716|PMID:20052365|PMID:20059485|PMID:20116881|PMID:20163773|PMID:20167849|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20381036|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20522854|PMID:20538955|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20651897 12125759 CFTR CF transmembrane conductance regulator gene DOID:9563 bronchiectasis ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20722470|PMID:20797923|PMID:20849526|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20977904|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21152102|PMID:21184098|PMID:21228398|PMID:2135388|PMID:21411740|PMID:21416780|PMID:21486785|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21594800|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21811577|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:2220803|PMID:22293084|PMID:22299590|PMID:22318583|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22449949|PMID:22468138|PMID:22569626|PMID:22572128|PMID:22658665|PMID:22664493|PMID:22678879|PMID:22680785|PMID:22768251|PMID:22942289|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22999299|PMID:2300168|PMID:23027855|PMID:23067305|PMID:23082198|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23436935|PMID:2344617|PMID:23466340|PMID:2349952|PMID:23514810|PMID:23523379|PMID:23590265|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23709221|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23810505|PMID:238191399|PMID:23837941|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:23951356|PMID:2397487|PMID:23974870|PMID:24033266|PMID:24066763|PMID:24081349|PMID:24129438|PMID:24243928|PMID:24269240|PMID:24375076|PMID:2441227|PMID:24412276|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24525081|PMID:24559724|PMID:24586523|PMID:24631642|PMID:24696795|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25087612|PMID:25122143|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25192979|PMID:25203624|PMID:25266159|PMID:25274949|PMID:25287046|PMID:25311995|PMID:25330774|PMID:25333069|PMID:25383785|PMID:25443471|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:25651269|PMID:25682022|PMID:25697318|PMID:25697321|PMID:25698453|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25755212|PMID:25763566|PMID:25797027|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25900089|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26070913|PMID:26087176|PMID:26095523|PMID:26098992|PMID:26135562|PMID:26149808|PMID:26182300|PMID:26199320|PMID:26277102|PMID:26324139|PMID:26348465|PMID:26436105|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26500004|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26708955|PMID:26795017|PMID:26800689|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26911355|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27086061|PMID:27143075|PMID:27158673|PMID:27171515|PMID:27264265|PMID:27298017|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27449771|PMID:27469177|PMID:27577878|PMID:27625827|PMID:27660821|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27805836|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28040058|PMID:28129809|PMID:28194692|PMID:28261631|PMID:28325531|PMID:28371569|PMID:28408918|PMID:28419121|PMID:28440306|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620 12125759 CFTR CF transmembrane conductance regulator gene DOID:9563 bronchiectasis ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28711222|PMID:28801929|PMID:28863137|PMID:28930490|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29133775|PMID:29173301|PMID:29216686|PMID:29261177|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29484681|PMID:29504914|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29805046|PMID:29944384|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30046002|PMID:30089726|PMID:30244528|PMID:30279124|PMID:30420730|PMID:30444886|PMID:30487145|PMID:30488522|PMID:30548586|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30811104|PMID:30845638|PMID:30888834|PMID:30938940|PMID:30992994|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31118044|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31310009|PMID:31331863|PMID:31350925|PMID:31447099|PMID:31450232|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31788424|PMID:31808782|PMID:31916691|PMID:31980526|PMID:32204475|PMID:32281737|PMID:32357917|PMID:32429104|PMID:32662942|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32819855|PMID:33083013|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33260873|PMID:33270637|PMID:33365035|PMID:33374015|PMID:33572515|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33836782|PMID:33946859|PMID:33972190|PMID:34134972|PMID:34145097|PMID:34426522|PMID:34525262|PMID:34888852|PMID:34974990|PMID:34996830|PMID:35418593|PMID:35585144|PMID:35626323|PMID:35698092|PMID:5371902|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7506096|PMID:7506605|PMID:7508414|PMID:7509310|PMID:7512860|PMID:7515303|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7539080|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542778|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7599637|PMID:7668304|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7682196|PMID:7684641|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7691344|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8533846|PMID:8535440|PMID:8605891|PMID:8659542|PMID:8662892|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582|PMID:8956039|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067761|PMID:9101293|PMID:9135274|PMID:9150159|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9383031|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9493456|PMID:9507391|PMID:9536098|PMID:9550361|PMID:9557894|PMID:9618063|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9799593|PMID:9806422|PMID:9915972|PMID:9921909|PMID:9950364|PMID:9950763 12125759 CFTR CF transmembrane conductance regulator gene DOID:9563 bronchiectasis susceptibility ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:mutations, polymorphisms: PMID:7543317|REF_RGD_ID:4140447 12125795 THEM5 thioesterase superfamily member 5 gene DOID:0111940 immunodeficiency 42 ISO RGD:1601923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12125795 THEM5 thioesterase superfamily member 5 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1601923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12125795 THEM5 thioesterase superfamily member 5 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1601923 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12125795 THEM5 thioesterase superfamily member 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1601923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12125795 THEM5 thioesterase superfamily member 5 gene DOID:5812 MHC class II deficiency ISO RGD:1601923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12125795 THEM5 thioesterase superfamily member 5 gene DOID:630 genetic disease ISO RGD:1601923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125795 THEM5 thioesterase superfamily member 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12125808 PPP1R11 protein phosphatase 1 regulatory inhibitor subunit 11 gene DOID:11372 megacolon ISO RGD:1350582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12125808 PPP1R11 protein phosphatase 1 regulatory inhibitor subunit 11 gene DOID:630 genetic disease ISO RGD:1350582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125818 LOC609557 cryptic protein gene DOID:0050545 visceral heterotaxy ISO RGD:1557732 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 12125818 LOC609557 cryptic protein gene DOID:0050545 visceral heterotaxy ISO RGD:1557732 D RGD:9068941 20220922 RGD PMID:10574770|REF_RGD_ID:155226882 12125818 LOC609557 cryptic protein gene DOID:0050545 visceral heterotaxy ISO RGD:2289769 D RGD:9068941 20220922 RGD DNA:missense mutation:exon:334C>T (p.R112C)(human) PMID:11062482|REF_RGD_ID:155226879 12125818 LOC609557 cryptic protein gene DOID:0050545 visceral heterotaxy ISO RGD:2289769 D RGD:9068941 20221117 RGD DNA:CNVs::2q21.1 (human) PMID:25423076|REF_RGD_ID:155226881 12125818 LOC609557 cryptic protein gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:1557732 D RGD:9068941 20220825 MouseDO 12125818 LOC609557 cryptic protein gene DOID:0060856 right atrial isomerism ISO RGD:1557732 D RGD:9068941 20220825 MouseDO OMIM:208530 12125818 LOC609557 cryptic protein gene DOID:6406 double outlet right ventricle ISO RGD:1557732 D RGD:9068941 20220825 MouseDO OMIM:217095 12125818 LOC609557 cryptic protein gene DOID:6419 tetralogy of Fallot ISO RGD:2289769 D RGD:9068941 20220922 RGD DNA:hypermethylation:promoter: PMID:24479926|REF_RGD_ID:155226880 12125818 LOC609557 cryptic protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2289769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12125836 HOXD9 homeobox D9 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1354432 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12125836 HOXD9 homeobox D9 gene DOID:3030 mucinous adenocarcinoma ISO RGD:1354432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075790 12125836 HOXD9 homeobox D9 gene DOID:630 genetic disease ISO RGD:1354432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125836 HOXD9 homeobox D9 gene DOID:684 hepatocellular carcinoma ISO RGD:1354432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12125836 HOXD9 homeobox D9 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1354432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075790 12125836 HOXD9 homeobox D9 gene DOID:9008192 Neoplastic Processes ISO RGD:1354432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075790 12125836 HOXD9 homeobox D9 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1354432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075790 12125842 DEFB1 defensin beta 1 gene DOID:10754 otitis media ISO RGD:8967243 D RGD:9068941 20200609 RGD PMID:22072973|REF_RGD_ID:11554036 12125842 DEFB1 defensin beta 1 gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:737379 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:17000097|REF_RGD_ID:4892262 12125842 DEFB1 defensin beta 1 gene DOID:13406 pulmonary sarcoidosis ISO RGD:737379 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17000097|REF_RGD_ID:4892262 12125842 DEFB1 defensin beta 1 gene DOID:2773 contact dermatitis ISO RGD:737379 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12125842 DEFB1 defensin beta 1 gene DOID:2841 asthma ISO RGD:737379 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr:g.-52G>A, g.-44C>G, g.-20G>A (human) PMID:16435024|REF_RGD_ID:4892254 12125842 DEFB1 defensin beta 1 gene DOID:2841 asthma susceptibility ISO RGD:737379 D RGD:9068941 20200609 RGD DNA:SNP: :-1816 T>C (human) PMID:15696078|REF_RGD_ID:4892263 12125842 DEFB1 defensin beta 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737379 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:11829455|REF_RGD_ID:1331523 12125842 DEFB1 defensin beta 1 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:737379 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:16700921|REF_RGD_ID:4892251 12125842 DEFB1 defensin beta 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:737379 D RGD:9068941 20200609 RGD DNA:polymorphism: :668C>G (human) PMID:15569478|REF_RGD_ID:4892257 12125842 DEFB1 defensin beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:737379 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17000097|REF_RGD_ID:4892262 12125842 DEFB1 defensin beta 1 gene DOID:552 pneumonia ISO RGD:737379 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17000097|REF_RGD_ID:4892262 12125842 DEFB1 defensin beta 1 gene DOID:630 genetic disease ISO RGD:737379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125842 DEFB1 defensin beta 1 gene DOID:850 lung disease disease_progression ISO RGD:737379 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;protein:decreased expression:respiratory system fluid/secretion PMID:15463886|REF_RGD_ID:4892259 12125842 DEFB1 defensin beta 1 gene DOID:850 lung disease severity ISO RGD:737379 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:SNP:5' utr:c.-20G>A (human) PMID:21077791|REF_RGD_ID:4892247 12125842 DEFB1 defensin beta 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737379 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12125842 DEFB1 defensin beta 1 gene DOID:9005446 Mandibular Neoplasms ISO RGD:737379 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:11934727|REF_RGD_ID:4892265 12125842 DEFB1 defensin beta 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619943 D RGD:9068941 20200609 RGD PMID:16740310|REF_RGD_ID:2312491 12125842 DEFB1 defensin beta 1 gene DOID:9007041 Actinobacillus Infections ISO RGD:619943 D RGD:9068941 20200609 RGD mRNA:increased expression:gingival epithelium PMID:17076783|REF_RGD_ID:4892269 12125842 DEFB1 defensin beta 1 gene DOID:9007417 Pseudomonas Infections no_association ISO RGD:737379 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:SNPs:5' utr, intron, 3' utr:multiple (human) PMID:15820309|REF_RGD_ID:4892256 12125842 DEFB1 defensin beta 1 gene DOID:9007417 Pseudomonas Infections no_association ISO RGD:737379 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:SNPs:5' utr:g.-52G>A, g.-44C>G, g.-20G>A (human) PMID:20193032|REF_RGD_ID:4892248 12125842 DEFB1 defensin beta 1 gene DOID:9007417 Pseudomonas Infections susceptibility ISO RGD:737379 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:SNPs:5' utr:g.-52G>A, g.-44C>G, g.-20G>A (human) PMID:17960157|REF_RGD_ID:4892250 12125842 DEFB1 defensin beta 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:619943 D RGD:9068941 20200609 RGD PMID:14521940|REF_RGD_ID:4892271 12125842 DEFB1 defensin beta 1 gene DOID:9675 pulmonary emphysema ISO RGD:732690 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:18699806|REF_RGD_ID:4892249 12125842 DEFB1 defensin beta 1 gene DOID:9970 obesity ISO RGD:619943 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:11340353|REF_RGD_ID:4892260 12125854 PLCXD3 phosphatidylinositol specific phospholipase C X domain containing 3 gene DOID:630 genetic disease ISO RGD:1604168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125854 PLCXD3 phosphatidylinositol specific phospholipase C X domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12125870 IL36G interleukin 36 gamma gene DOID:289 endometriosis ISO RGD:1351778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometriosis 12125870 IL36G interleukin 36 gamma gene DOID:630 genetic disease ISO RGD:1351778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125885 LOC100686484 zinc finger protein 77 gene DOID:630 genetic disease ISO RGD:1346753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125885 LOC100686484 zinc finger protein 77 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12125902 WWP1 WW domain containing E3 ubiquitin protein ligase 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1323344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 12125902 WWP1 WW domain containing E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1323344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125951 LAT2 linker for activation of T cells family member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1342914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12125951 LAT2 linker for activation of T cells family member 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1342914 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:32587277 12125951 LAT2 linker for activation of T cells family member 2 gene DOID:10923 sickle cell anemia ISO RGD:1342914 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12125951 LAT2 linker for activation of T cells family member 2 gene DOID:12849 autistic disorder ISO RGD:1342914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12125951 LAT2 linker for activation of T cells family member 2 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1342914 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 12125951 LAT2 linker for activation of T cells family member 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1342914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12125951 LAT2 linker for activation of T cells family member 2 gene DOID:5419 schizophrenia ISO RGD:1342914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12125951 LAT2 linker for activation of T cells family member 2 gene DOID:630 genetic disease ISO RGD:1342914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12125951 LAT2 linker for activation of T cells family member 2 gene DOID:8445 intestinal volvulus ISO RGD:1342914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12125951 LAT2 linker for activation of T cells family member 2 gene DOID:9000918 Disease Progression ISO RGD:1342914 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:32587277 12125951 LAT2 linker for activation of T cells family member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12125951 LAT2 linker for activation of T cells family member 2 gene DOID:9004441 Experimental Leukemia ISO RGD:1342914 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:32587277 12125951 LAT2 linker for activation of T cells family member 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1342914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12125971 SPMIP2 sperm associated microtubule inner protein 2 gene DOID:630 genetic disease ISO RGD:1602179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126031 SLC1A6 solute carrier family 1 member 6 gene DOID:630 genetic disease ISO RGD:732902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126044 PDCD5 programmed cell death 5 gene DOID:630 genetic disease ISO RGD:1321536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126053 BRDT bromodomain testis associated gene DOID:0070163 spermatogenic failure 21 ISO RGD:1315431 D RGD:7240710 20190315 OMIM 12126053 BRDT bromodomain testis associated gene DOID:0070163 spermatogenic failure 21 ISO RGD:1315431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 21 PMID:28199965 12126053 BRDT bromodomain testis associated gene DOID:14227 azoospermia ISO RGD:1315431 D RGD:9068941 20200609 RGD protein:decreased expression:testis: PMID:22035730|REF_RGD_ID:9586359 12126053 BRDT bromodomain testis associated gene DOID:14227 azoospermia susceptibility ISO RGD:1315431 D RGD:9068941 20200609 RGD DNA:SNP: :rs3088232(human) PMID:22016351|REF_RGD_ID:9586360 12126053 BRDT bromodomain testis associated gene DOID:14228 oligospermia susceptibility ISO RGD:1315431 D RGD:9068941 20200609 RGD DNA:SNP: :rs3088232(human) PMID:22016351|REF_RGD_ID:9586360 12126053 BRDT bromodomain testis associated gene DOID:5426 primary ovarian insufficiency ISO RGD:1315431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12126053 BRDT bromodomain testis associated gene DOID:630 genetic disease ISO RGD:1315431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126076 KLHL23 kelch like family member 23 gene DOID:630 genetic disease ISO RGD:36947621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126084 SPINDOC spindlin interactor and repressor of chromatin binding gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604233 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12126084 SPINDOC spindlin interactor and repressor of chromatin binding gene DOID:1059 intellectual disability ISO RGD:1604233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12126084 SPINDOC spindlin interactor and repressor of chromatin binding gene DOID:3070 high grade glioma ISO RGD:1604233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12126104 BID BH3 interacting domain death agonist gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:620160 D RGD:9068941 20200609 RGD associated with gastric adenocarcinoma PMID:29588340|REF_RGD_ID:13792594 12126104 BID BH3 interacting domain death agonist gene DOID:0111996 immunodeficiency 51 ISO RGD:1346183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12126104 BID BH3 interacting domain death agonist gene DOID:11650 bronchopulmonary dysplasia ISO RGD:620160 D RGD:9068941 20200609 RGD PMID:26431790|REF_RGD_ID:11537057 12126104 BID BH3 interacting domain death agonist gene DOID:1793 pancreatic cancer ISO RGD:1346183 D RGD:9068941 20200609 RGD PMID:15943879|REF_RGD_ID:2317560 12126104 BID BH3 interacting domain death agonist gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732539 D RGD:9068941 20200609 RGD PMID:29440992|REF_RGD_ID:13506949 12126104 BID BH3 interacting domain death agonist gene DOID:630 genetic disease ISO RGD:1346183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126104 BID BH3 interacting domain death agonist gene DOID:684 hepatocellular carcinoma ISO RGD:1346183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15289866 12126104 BID BH3 interacting domain death agonist gene DOID:9000217 Stomach Neoplasms ISO RGD:1346183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15095271 12126104 BID BH3 interacting domain death agonist gene DOID:9004009 Reperfusion Injury ISO RGD:620160 D RGD:9068941 20200609 RGD PMID:19888517|REF_RGD_ID:2317562 12126104 BID BH3 interacting domain death agonist gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12126104 BID BH3 interacting domain death agonist gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620160 D RGD:9068941 20200609 RGD PMID:19940077|REF_RGD_ID:2317561 12126104 BID BH3 interacting domain death agonist gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620160 D RGD:9068941 20200609 RGD protein:increased cleavage:heart: PMID:11934844|REF_RGD_ID:13782263 12126104 BID BH3 interacting domain death agonist gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1346183 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12126113 TRIM61 tripartite motif containing 61 gene DOID:630 genetic disease ISO RGD:1354030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126116 INAFM1 InaF motif containing 1 gene DOID:630 genetic disease ISO RGD:3518440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126122 GABRG1 gamma-aminobutyric acid type A receptor subunit gamma1 gene DOID:10283 prostate cancer ISO RGD:732733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12126122 GABRG1 gamma-aminobutyric acid type A receptor subunit gamma1 gene DOID:12098 trigeminal neuralgia ISO RGD:737444 D RGD:9068941 20220825 MouseDO OMIM:190400 12126122 GABRG1 gamma-aminobutyric acid type A receptor subunit gamma1 gene DOID:630 genetic disease ISO RGD:732733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126148 CCN3 cellular communication network factor 3 gene DOID:0080600 COVID-19 ISO RGD:732996 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12126148 CCN3 cellular communication network factor 3 gene DOID:10534 stomach cancer severity ISO RGD:732996 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 12126148 CCN3 cellular communication network factor 3 gene DOID:10591 pre-eclampsia ISO RGD:732996 D RGD:9068941 20200609 RGD protein:decreased expression:placenta (human) PMID:16675545|REF_RGD_ID:1580971 12126148 CCN3 cellular communication network factor 3 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:732996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12126148 CCN3 cellular communication network factor 3 gene DOID:206 hereditary multiple exostoses ISO RGD:732996 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 12126148 CCN3 cellular communication network factor 3 gene DOID:2843 long QT syndrome ISO RGD:732996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12126157 ATAD2 ATPase family AAA domain containing 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1312522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12126157 ATAD2 ATPase family AAA domain containing 2 gene DOID:630 genetic disease ISO RGD:1312522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126192 TMEM178A transmembrane protein 178A gene DOID:3883 Lynch syndrome ISO RGD:1602302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12126192 TMEM178A transmembrane protein 178A gene DOID:630 genetic disease ISO RGD:1602302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126192 TMEM178A transmembrane protein 178A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1332223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12126192 TMEM178A transmembrane protein 178A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12126203 EED embryonic ectoderm development gene DOID:0060041 autism spectrum disorder ISO RGD:1320306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12126203 EED embryonic ectoderm development gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1320306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 12126203 EED embryonic ectoderm development gene DOID:1059 intellectual disability ISO RGD:1320306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12126203 EED embryonic ectoderm development gene DOID:224 transient cerebral ischemia ISO RGD:1309782 D RGD:9068941 20200609 RGD PMID:24007266|REF_RGD_ID:9588303 12126203 EED embryonic ectoderm development gene DOID:3192 neurilemmoma ISO RGD:1320306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 12126203 EED embryonic ectoderm development gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12126203 EED embryonic ectoderm development gene DOID:630 genetic disease ISO RGD:1320306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 12126203 EED embryonic ectoderm development gene DOID:9001209 Cohen-Gibson Syndrome ISO RGD:1320306 D RGD:7240710 20190315 OMIM 12126203 EED embryonic ectoderm development gene DOID:9001209 Cohen-Gibson Syndrome ISO RGD:1320306 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cohen-Gibson syndrome PMID:17576681|PMID:25741868|PMID:27193220|PMID:27868325|PMID:28119537|PMID:28229514|PMID:28475857|PMID:28492532|PMID:30858506|PMID:9536098 12126203 EED embryonic ectoderm development gene DOID:9004217 Nerve Sheath Neoplasms ISO RGD:1320306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25240281 12126203 EED embryonic ectoderm development gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1320307 D RGD:9068941 20221103 RGD mRNA:altered expression:kidney (mouse) PMID:18467665|REF_RGD_ID:155631277 12126223 TTPAL alpha tocopherol transfer protein like gene DOID:2234 focal epilepsy ISO RGD:1313976 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12126223 TTPAL alpha tocopherol transfer protein like gene DOID:630 genetic disease ISO RGD:1313976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126223 TTPAL alpha tocopherol transfer protein like gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12126242 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:0060180 colitis treatment ISO RGD:1306661 D RGD:9068941 20200609 RGD PMID:17543437|REF_RGD_ID:2298659 12126242 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:0060647 fetal encasement syndrome ISO RGD:1315401 D RGD:7240710 20180130 OMIM 12126242 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:0060647 fetal encasement syndrome ISO RGD:1315401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cocoon syndrome PMID:20961246 12126242 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:0080006 bone development disease ISO RGD:1315401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10346820 12126242 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:10283 prostate cancer ISO RGD:1315401 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:prostate gland PMID:26435478|REF_RGD_ID:13504773 12126242 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:12849 autistic disorder ISO RGD:1315401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20957522 12126242 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:219 colon cancer ISO RGD:1315401 D RGD:9068941 20220811 RGD protein:increased expression:colon (human) PMID:16774932|REF_RGD_ID:153305944 12126242 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:1315402 D RGD:9068941 20200609 RGD PMID:26379052|REF_RGD_ID:13504774 12126242 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:2841 asthma ISO RGD:1315402 D RGD:9068941 20200609 RGD PMID:21496385|REF_RGD_ID:5133703 12126242 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:3571 liver cancer ISO RGD:1315401 D RGD:9068941 20220811 RGD human cells in mouse model PMID:27367027|REF_RGD_ID:153305911 12126242 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:4159 skin cancer ISO RGD:1315402 D RGD:9068941 20200609 RGD PMID:21755017|REF_RGD_ID:13504775 12126242 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:630 genetic disease ISO RGD:1315401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12126242 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:674 cleft palate ISO RGD:1315401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10346820 12126242 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:767 muscular atrophy treatment ISO RGD:1306661 D RGD:9068941 20200609 RGD PMID:18827022|REF_RGD_ID:7495773 12126242 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:874 bacterial pneumonia ISO RGD:1315402 D RGD:9068941 20200609 RGD PMID:18643924|REF_RGD_ID:5133701 12126242 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315402 D RGD:9068941 20200609 RGD associated with prostate adenocarcinoma PMID:17377533|REF_RGD_ID:2298657 12126242 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9001946 Skin Abnormalities ISO RGD:1315401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10195895|PMID:10195896|PMID:10346820 12126242 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9001984 Fetal Diseases ISO RGD:1315401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10195895|PMID:10195896|PMID:10346820|PMID:20961246 12126242 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315402 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18317887|REF_RGD_ID:2291908 12126242 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9005372 Inflammation ISO RGD:1315402 D RGD:9068941 20200609 RGD PMID:20472709|REF_RGD_ID:5133702 12126242 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9006294 Congenital Limb Deformities ISO RGD:1315401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10195895|PMID:10195896|PMID:10346820|PMID:20961246 12126242 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9006857 Bartsocas-Papas Syndrome 2 ISO RGD:1315401 D RGD:7240710 20210616 OMIM 12126242 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9006857 Bartsocas-Papas Syndrome 2 ISO RGD:1315401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bartsocas-Papas syndrome 2 PMID:25691407 12126242 CHUK component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9007653 Multiple Abnormalities ISO RGD:1315401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961246 12126276 TDRD1 tudor domain containing 1 gene DOID:630 genetic disease ISO RGD:1314584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126320 ZNF609 zinc finger protein 609 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1349333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12126320 ZNF609 zinc finger protein 609 gene DOID:11054 urinary bladder cancer ISO RGD:1349333 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35567596 12126320 ZNF609 zinc finger protein 609 gene DOID:2717 Bloom syndrome ISO RGD:1349333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12126320 ZNF609 zinc finger protein 609 gene DOID:630 genetic disease ISO RGD:1349333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126320 ZNF609 zinc finger protein 609 gene DOID:9256 colorectal cancer ISO RGD:1349333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12126337 SCFD1 sec1 family domain containing 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1350281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12126337 SCFD1 sec1 family domain containing 1 gene DOID:630 genetic disease ISO RGD:1350281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126337 SCFD1 sec1 family domain containing 1 gene DOID:9004009 Reperfusion Injury ISO RGD:619828 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:9195952|REF_RGD_ID:633771 12126337 SCFD1 sec1 family domain containing 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350281 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12126372 TSPAN7 tetraspanin 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12126372 TSPAN7 tetraspanin 7 gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1352570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 12126372 TSPAN7 tetraspanin 7 gene DOID:0112024 non-syndromic X-linked intellectual disability 58 ISO RGD:1352570 D RGD:7240710 20180130 OMIM 12126372 TSPAN7 tetraspanin 7 gene DOID:0112024 non-syndromic X-linked intellectual disability 58 ISO RGD:1352570 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 58 PMID:10655063|PMID:12376945|PMID:14735593|PMID:25741868|PMID:28492532 12126372 TSPAN7 tetraspanin 7 gene DOID:1059 intellectual disability ISO RGD:1352570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12126372 TSPAN7 tetraspanin 7 gene DOID:12849 autistic disorder ISO RGD:1352570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12126372 TSPAN7 tetraspanin 7 gene DOID:630 genetic disease ISO RGD:1352570 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12126372 TSPAN7 tetraspanin 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12126372 TSPAN7 tetraspanin 7 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1352570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 12126384 CEP41 centrosomal protein 41 gene DOID:0050777 Joubert syndrome ISO RGD:1346248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 12126384 CEP41 centrosomal protein 41 gene DOID:0060041 autism spectrum disorder ISO RGD:1346248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Autism Spectrum Disorder PMID:20301500|PMID:22246503|PMID:25741868|PMID:28492532|PMID:30664616 12126384 CEP41 centrosomal protein 41 gene DOID:0110984 Joubert syndrome 15 ISO RGD:1346248 D RGD:7240710 20180130 OMIM 12126384 CEP41 centrosomal protein 41 gene DOID:0110984 Joubert syndrome 15 ISO RGD:1346248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 15 PMID:16199547|PMID:17576681|PMID:20301500|PMID:21438139|PMID:22246503|PMID:25741868|PMID:28492532|PMID:29588463|PMID:30664616|PMID:9536098 12126384 CEP41 centrosomal protein 41 gene DOID:0111004 Joubert syndrome 9 ISO RGD:1346248 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic PMID:20301500|PMID:22246503|PMID:25741868|PMID:28492532|PMID:30664616 12126384 CEP41 centrosomal protein 41 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12126384 CEP41 centrosomal protein 41 gene DOID:630 genetic disease ISO RGD:1346248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22246503|PMID:25741868|PMID:28492532 12126384 CEP41 centrosomal protein 41 gene DOID:9250 acrocallosal syndrome ISO RGD:1346248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 12/15, digenic PMID:22246503|PMID:28492532 12126405 FBXO27 F-box protein 27 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1343305 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12126405 FBXO27 F-box protein 27 gene DOID:630 genetic disease ISO RGD:1343305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126405 FBXO27 F-box protein 27 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343305 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12126414 HMCES 5-hydroxymethylcytosine binding, ES cell specific gene DOID:0111947 immunodeficiency 21 ISO RGD:1604329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12126414 HMCES 5-hydroxymethylcytosine binding, ES cell specific gene DOID:630 genetic disease ISO RGD:1604329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126414 HMCES 5-hydroxymethylcytosine binding, ES cell specific gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 12126414 HMCES 5-hydroxymethylcytosine binding, ES cell specific gene DOID:9270 alkaptonuria ISO RGD:1604329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12126443 PTK2B protein tyrosine kinase 2 beta gene DOID:10283 prostate cancer severity ISO RGD:1346204 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:11204274|REF_RGD_ID:2292571 12126443 PTK2B protein tyrosine kinase 2 beta gene DOID:10652 Alzheimer's disease ISO RGD:1346204 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 12126443 PTK2B protein tyrosine kinase 2 beta gene DOID:10763 hypertension ISO RGD:628758 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:21068519|REF_RGD_ID:10041072 12126443 PTK2B protein tyrosine kinase 2 beta gene DOID:10763 hypertension susceptibility ISO RGD:1346204 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-22A>G PMID:18075463|REF_RGD_ID:2292575 12126443 PTK2B protein tyrosine kinase 2 beta gene DOID:10952 nephritis treatment ISO RGD:628758 D RGD:9068941 20200609 RGD PMID:25176084|REF_RGD_ID:10041073 12126443 PTK2B protein tyrosine kinase 2 beta gene DOID:11713 diabetic angiopathy treatment ISO RGD:628758 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:21926342|REF_RGD_ID:10041069 12126443 PTK2B protein tyrosine kinase 2 beta gene DOID:1612 breast cancer ISO RGD:1346204 D RGD:9068941 20200609 RGD DNA:deletion PMID:16457699|REF_RGD_ID:2292558 12126443 PTK2B protein tyrosine kinase 2 beta gene DOID:1824 status epilepticus ISO RGD:1346204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16600505 12126443 PTK2B protein tyrosine kinase 2 beta gene DOID:1824 status epilepticus ISO RGD:628758 D RGD:9068941 20200609 RGD protein:increased phosphorylation:hippocampus, postsynaptic density PMID:16600505|REF_RGD_ID:1581409 12126443 PTK2B protein tyrosine kinase 2 beta gene DOID:1909 melanoma ISO RGD:1346204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19718025 12126443 PTK2B protein tyrosine kinase 2 beta gene DOID:2316 brain ischemia ISO RGD:628758 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:cerebral cortex PMID:10964954|REF_RGD_ID:1642647 12126443 PTK2B protein tyrosine kinase 2 beta gene DOID:2921 glomerulonephritis ISO RGD:1346204 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus PMID:11774117|REF_RGD_ID:729912 12126443 PTK2B protein tyrosine kinase 2 beta gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:628758 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus PMID:11774117|REF_RGD_ID:729912 12126443 PTK2B protein tyrosine kinase 2 beta gene DOID:630 genetic disease ISO RGD:1346204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126443 PTK2B protein tyrosine kinase 2 beta gene DOID:9002514 Neointima ISO RGD:628758 D RGD:9068941 20200609 RGD associated with Carotid Artery Injuries PMID:22922962|REF_RGD_ID:10041068 12126443 PTK2B protein tyrosine kinase 2 beta gene DOID:9004009 Reperfusion Injury ISO RGD:628758 D RGD:9068941 20200609 RGD protein:increased phosphorylation:hippocampus PMID:15970382|REF_RGD_ID:1642621 12126443 PTK2B protein tyrosine kinase 2 beta gene DOID:9004464 Skin Neoplasms ISO RGD:1346204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19718025 12126443 PTK2B protein tyrosine kinase 2 beta gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:628758 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression, increased phosphorylation:cardiac muscle cell PMID:12124218|REF_RGD_ID:1642607 12126443 PTK2B protein tyrosine kinase 2 beta gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:628758 D RGD:9068941 20200609 RGD PMID:17537919|REF_RGD_ID:1642610 12126443 PTK2B protein tyrosine kinase 2 beta gene DOID:9007692 Insulin Resistance ISO RGD:733599 D RGD:9068941 20200609 RGD associated with Obesity PMID:16039993|REF_RGD_ID:1642605 12126484 UBE2W ubiquitin conjugating enzyme E2 W gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1605362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K PMID:15805163|PMID:20685671|PMID:21681106 12126494 PAQR5 progestin and adipoQ receptor family member 5 gene DOID:2717 Bloom syndrome ISO RGD:1606550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12126494 PAQR5 progestin and adipoQ receptor family member 5 gene DOID:630 genetic disease ISO RGD:1606550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126494 PAQR5 progestin and adipoQ receptor family member 5 gene DOID:9256 colorectal cancer ISO RGD:1606550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12126512 PARP9 poly(ADP-ribose) polymerase family member 9 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1347584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12126512 PARP9 poly(ADP-ribose) polymerase family member 9 gene DOID:630 genetic disease ISO RGD:1347584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126512 PARP9 poly(ADP-ribose) polymerase family member 9 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12126512 PARP9 poly(ADP-ribose) polymerase family member 9 gene DOID:9270 alkaptonuria ISO RGD:1347584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12126535 NKD2 NKD inhibitor of WNT signaling pathway 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1322930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 12126535 NKD2 NKD inhibitor of WNT signaling pathway 2 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1322930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 12126535 NKD2 NKD inhibitor of WNT signaling pathway 2 gene DOID:630 genetic disease ISO RGD:1322930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126535 NKD2 NKD inhibitor of WNT signaling pathway 2 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1322930 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 12126547 LMBRD2 LMBR1 domain containing 2 gene DOID:0060163 body dysmorphic disorder ISO RGD:1603597 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:25741868|PMID:32165824|PMID:32820033 12126547 LMBRD2 LMBR1 domain containing 2 gene DOID:14791 Leber congenital amaurosis ISO RGD:1603597 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Leber's amaurosis PMID:25741868|PMID:32165824|PMID:32820033 12126547 LMBRD2 LMBR1 domain containing 2 gene DOID:630 genetic disease ISO RGD:1603597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126547 LMBRD2 LMBR1 domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603597 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32820033 12126547 LMBRD2 LMBR1 domain containing 2 gene DOID:9005399 DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES ISO RGD:1603597 D RGD:7240710 20220316 OMIM 12126547 LMBRD2 LMBR1 domain containing 2 gene DOID:9005399 DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES ISO RGD:1603597 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Developmental delay with variable neurologic and brain abnormalities PMID:25741868|PMID:32165824|PMID:32820033 12126547 LMBRD2 LMBR1 domain containing 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1603597 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32165824|PMID:32820033 12126579 FAM118B family with sequence similarity 118 member B gene DOID:0110877 holoprosencephaly 11 ISO RGD:1603013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12126579 FAM118B family with sequence similarity 118 member B gene DOID:0111723 Jacobsen Syndrome ISO RGD:1603013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12126579 FAM118B family with sequence similarity 118 member B gene DOID:5419 schizophrenia ISO RGD:1603013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12126579 FAM118B family with sequence similarity 118 member B gene DOID:630 genetic disease ISO RGD:1603013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126579 FAM118B family with sequence similarity 118 member B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12126579 FAM118B family with sequence similarity 118 member B gene DOID:9007661 Dwarfism ISO RGD:1603013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12126600 UNKL unk like zinc finger gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1604323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12126600 UNKL unk like zinc finger gene DOID:0080678 mucolipidosis III gamma ISO RGD:1604323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, VARIANT FORM 12126600 UNKL unk like zinc finger gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604323 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12126600 UNKL unk like zinc finger gene DOID:1826 epilepsy ISO RGD:1604323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12126600 UNKL unk like zinc finger gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12126600 UNKL unk like zinc finger gene DOID:630 genetic disease ISO RGD:1604323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126630 EPS8L3 EPS8 like 3 gene DOID:0110702 hypotrichosis 5 ISO RGD:1318007 D RGD:7240710 20200408 OMIM 12126630 EPS8L3 EPS8 like 3 gene DOID:0110702 hypotrichosis 5 ISO RGD:1318007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotrichosis 5 PMID:15347323|PMID:23099647|PMID:25741868 12126630 EPS8L3 EPS8 like 3 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1318007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12126630 EPS8L3 EPS8 like 3 gene DOID:12849 autistic disorder ISO RGD:1318007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12126630 EPS8L3 EPS8 like 3 gene DOID:630 genetic disease ISO RGD:1318007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126630 EPS8L3 EPS8 like 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1318007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12126630 EPS8L3 EPS8 like 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19223546 12126656 CACNB1 calcium voltage-gated channel auxiliary subunit beta 1 gene DOID:630 genetic disease ISO RGD:68552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126677 DIPK1B divergent protein kinase domain 1B gene DOID:0050777 Joubert syndrome ISO RGD:1602652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12126677 DIPK1B divergent protein kinase domain 1B gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1602652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12126677 DIPK1B divergent protein kinase domain 1B gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1602652 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12126677 DIPK1B divergent protein kinase domain 1B gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1602652 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12126677 DIPK1B divergent protein kinase domain 1B gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1602652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12126677 DIPK1B divergent protein kinase domain 1B gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1602652 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12126677 DIPK1B divergent protein kinase domain 1B gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1602652 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12126677 DIPK1B divergent protein kinase domain 1B gene DOID:0081097 Rafiq syndrome ISO RGD:1602652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12126677 DIPK1B divergent protein kinase domain 1B gene DOID:1826 epilepsy ISO RGD:1602652 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12126677 DIPK1B divergent protein kinase domain 1B gene DOID:3652 Leigh disease ISO RGD:1602652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12126677 DIPK1B divergent protein kinase domain 1B gene DOID:630 genetic disease ISO RGD:1602652 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126677 DIPK1B divergent protein kinase domain 1B gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1602652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12126695 TLR7 toll like receptor 7 gene DOID:0050777 Joubert syndrome ISO RGD:1353456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 12126695 TLR7 toll like receptor 7 gene DOID:0080162 lupus nephritis ISO RGD:1558497 D RGD:9068941 20200609 RGD PMID:19944565|REF_RGD_ID:7246905 12126695 TLR7 toll like receptor 7 gene DOID:0080600 COVID-19 severity ISO RGD:1353456 D RGD:9068941 20210625 RGD DNA:SNPs:Cds: PMID:33650967|REF_RGD_ID:127284891 12126695 TLR7 toll like receptor 7 gene DOID:0112063 X-Linked immunodeficiency 74 ISO RGD:1353456 D RGD:7240710 20200902 OMIM 12126695 TLR7 toll like receptor 7 gene DOID:0112063 X-Linked immunodeficiency 74 ISO RGD:1353456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 74, COVID-19-related, X-linked PMID:32706371 12126695 TLR7 toll like receptor 7 gene DOID:11168 anogenital venereal wart ISO RGD:1353456 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 12126695 TLR7 toll like receptor 7 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1353456 D RGD:9068941 20200609 RGD associated with Bronchiolitis; mRNA:increased expression:nasopharynx (human) PMID:19386802|REF_RGD_ID:5129471 12126695 TLR7 toll like receptor 7 gene DOID:12849 autistic disorder ISO RGD:1353456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12126695 TLR7 toll like receptor 7 gene DOID:1883 hepatitis C ISO RGD:1353456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27385120 12126695 TLR7 toll like receptor 7 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1558497 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (mouse) PMID:18256364|REF_RGD_ID:7246909 12126695 TLR7 toll like receptor 7 gene DOID:3042 allergic contact dermatitis ISO RGD:1353456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 12126695 TLR7 toll like receptor 7 gene DOID:630 genetic disease ISO RGD:1353456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12126695 TLR7 toll like receptor 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1353456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24990399 12126695 TLR7 toll like receptor 7 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1563357 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum PMID:19608731|REF_RGD_ID:5128779 12126695 TLR7 toll like receptor 7 gene DOID:9000889 Escherichia Coli Meningitis ISO RGD:1558497 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:12781911|REF_RGD_ID:7794740 12126695 TLR7 toll like receptor 7 gene DOID:9001314 Systemic Lupus Erythematosus 17 ISO RGD:1353456 D RGD:7240710 20220518 OMIM 12126695 TLR7 toll like receptor 7 gene DOID:9001314 Systemic Lupus Erythematosus 17 ISO RGD:1353456 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus 17 PMID:35477763 12126695 TLR7 toll like receptor 7 gene DOID:9001472 Nasal Polyps ISO RGD:1353456 D RGD:9068941 20200609 RGD associated with Rhinosinusitis;mRNA,protein:increased expression: PMID:23157229|REF_RGD_ID:7800741 12126695 TLR7 toll like receptor 7 gene DOID:9001499 Orthomyxoviridae Infections ISO RGD:1353456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22916010 12126695 TLR7 toll like receptor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12126695 TLR7 toll like receptor 7 gene DOID:9074 systemic lupus erythematosus ISO RGD:1353456 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus PMID:35477763 12126706 NANP N-acetylneuraminic acid phosphatase gene DOID:630 genetic disease ISO RGD:1345004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126712 ANKS1A ankyrin repeat and sterile alpha motif domain containing 1A gene DOID:0050553 JMP syndrome ISO RGD:1319381 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12126712 ANKS1A ankyrin repeat and sterile alpha motif domain containing 1A gene DOID:3393 coronary artery disease ISO RGD:1319381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 12126712 ANKS1A ankyrin repeat and sterile alpha motif domain containing 1A gene DOID:630 genetic disease ISO RGD:1319381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126757 PRPSAP1 phosphoribosyl pyrophosphate synthetase associated protein 1 gene DOID:630 genetic disease ISO RGD:733778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126772 ZNF334 zinc finger protein 334 gene DOID:2234 focal epilepsy ISO RGD:1318499 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12126772 ZNF334 zinc finger protein 334 gene DOID:630 genetic disease ISO RGD:1318499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126781 FANCG FA complementation group G gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1350702 D RGD:9068941 20200609 RGD PMID:17409780|REF_RGD_ID:11049143 12126781 FANCG FA complementation group G gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1350702 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:11438206|PMID:16643430|PMID:24728327|PMID:25741868|PMID:26740942|PMID:28492532 12126781 FANCG FA complementation group G gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1350702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12126781 FANCG FA complementation group G gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1350702 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12126781 FANCG FA complementation group G gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:1350702 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant PMID:11438206|PMID:16643430|PMID:24728327|PMID:25741868|PMID:26740942|PMID:28492532 12126781 FANCG FA complementation group G gene DOID:0080942 anauxetic dysplasia ISO RGD:1350702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12126781 FANCG FA complementation group G gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1350702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12126781 FANCG FA complementation group G gene DOID:0111086 Fanconi anemia complementation group G ISO RGD:1350702 D RGD:7240710 20180130 OMIM 12126781 FANCG FA complementation group G gene DOID:0111086 Fanconi anemia complementation group G ISO RGD:1350702 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group G PMID:09806548|PMID:10567393|PMID:10807541|PMID:10961856|PMID:11093276|PMID:11126723|PMID:11438206|PMID:12552564|PMID:12673805|PMID:15657175|PMID:16084127|PMID:16199547|PMID:16621732|PMID:16643430|PMID:17010390|PMID:17576681|PMID:17924555|PMID:19102630|PMID:20301575|PMID:21659346|PMID:22778927|PMID:23067021|PMID:23613520|PMID:24136620|PMID:24300640|PMID:24584348|PMID:24728327|PMID:24763404|PMID:25703136|PMID:25741868|PMID:26689913|PMID:26740942|PMID:26968956|PMID:28024295|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29905759|PMID:30031030|PMID:31558676|PMID:31839986|PMID:32546565|PMID:32947577|PMID:33718801|PMID:9536098|PMID:9806548 12126781 FANCG FA complementation group G gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1350702 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:25741868|PMID:28492532 12126781 FANCG FA complementation group G gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1350702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12126781 FANCG FA complementation group G gene DOID:13636 Fanconi anemia ISO RGD:1350702 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:09806548|PMID:10807541|PMID:10961856|PMID:11093276|PMID:11126723|PMID:11438206|PMID:12552564|PMID:12673805|PMID:15657175|PMID:16084127|PMID:16199547|PMID:16643430|PMID:17576681|PMID:17924555|PMID:19102630|PMID:20301575|PMID:22778927|PMID:23067021|PMID:23613520|PMID:24033266|PMID:24584348|PMID:24728327|PMID:24763404|PMID:24989076|PMID:25703136|PMID:25741868|PMID:26689913|PMID:27041517|PMID:28024295|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29905759|PMID:30031030|PMID:32546565|PMID:33563768|PMID:9536098|PMID:9806548 12126781 FANCG FA complementation group G gene DOID:13636 Fanconi anemia ISO RGD:1350702 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:09806548|PMID:10807541|PMID:10961856|PMID:11093276|PMID:11126723|PMID:11438206|PMID:12552564|PMID:12673805|PMID:15657175|PMID:16084127|PMID:16199547|PMID:16621732|PMID:16643430|PMID:17010390|PMID:17576681|PMID:17924555|PMID:19102630|PMID:20301575|PMID:22778927|PMID:23067021|PMID:23613520|PMID:24033266|PMID:24584348|PMID:24728327|PMID:24763404|PMID:24989076|PMID:25703136|PMID:25741868|PMID:26689913|PMID:27041517|PMID:28024295|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29905759|PMID:30031030|PMID:31558676|PMID:32546565|PMID:33563768|PMID:9536098|PMID:9806548 12126781 FANCG FA complementation group G gene DOID:13636 Fanconi anemia ISO RGD:1350702 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:09806548|PMID:10567393|PMID:10807541|PMID:10961856|PMID:11093276|PMID:11126723|PMID:11438206|PMID:12552564|PMID:12673805|PMID:15657175|PMID:16084127|PMID:16199547|PMID:16621732|PMID:16643430|PMID:17010390|PMID:17576681|PMID:17924555|PMID:19102630|PMID:20301575|PMID:21659346|PMID:22778927|PMID:23067021|PMID:23613520|PMID:24033266|PMID:24136620|PMID:24584348|PMID:24728327|PMID:24763404|PMID:24989076|PMID:25703136|PMID:25741868|PMID:26689913|PMID:26740942|PMID:26968956|PMID:27041517|PMID:28024295|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29905759|PMID:30031030|PMID:31558676|PMID:31839986|PMID:32546565|PMID:32947577|PMID:33563768|PMID:33718801|PMID:34422195|PMID:9536098|PMID:9806548 12126781 FANCG FA complementation group G gene DOID:1793 pancreatic cancer ISO RGD:1350702 D RGD:9068941 20200609 RGD PMID:16243825|REF_RGD_ID:2317238 12126781 FANCG FA complementation group G gene DOID:2394 ovarian cancer ISO RGD:1350702 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:28492532 12126781 FANCG FA complementation group G gene DOID:403 mouth disease ISO RGD:1350702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 12126781 FANCG FA complementation group G gene DOID:4905 pancreatic carcinoma ISO RGD:1350702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas 12126781 FANCG FA complementation group G gene DOID:630 genetic disease ISO RGD:1350702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12126781 FANCG FA complementation group G gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1350702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12126781 FANCG FA complementation group G gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1350702 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868|PMID:28717661 12126781 FANCG FA complementation group G gene DOID:9562 primary ciliary dyskinesia ISO RGD:1350702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12126781 FANCG FA complementation group G gene DOID:9870 galactosemia ISO RGD:1350702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12126824 CLDN23 claudin 23 gene DOID:3310 atopic dermatitis ISO RGD:1319100 D RGD:9068941 20200609 RGD mRNA:decreased expression:epidermis: PMID:21163515|REF_RGD_ID:11344875 12126824 CLDN23 claudin 23 gene DOID:630 genetic disease ISO RGD:1319100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126824 CLDN23 claudin 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12126829 LMNTD2 lamin tail domain containing 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12126829 LMNTD2 lamin tail domain containing 2 gene DOID:0050729 neutral lipid storage disease ISO RGD:1603159 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 12126829 LMNTD2 lamin tail domain containing 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1603159 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12126829 LMNTD2 lamin tail domain containing 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:1603159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12126829 LMNTD2 lamin tail domain containing 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12126829 LMNTD2 lamin tail domain containing 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12126829 LMNTD2 lamin tail domain containing 2 gene DOID:630 genetic disease ISO RGD:1603159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126856 TIGD2 tigger transposable element derived 2 gene DOID:630 genetic disease ISO RGD:1348664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126856 TIGD2 tigger transposable element derived 2 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1348664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12126862 TLN1 talin 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1314756 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 12126862 TLN1 talin 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1314756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12126862 TLN1 talin 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1314756 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12126862 TLN1 talin 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:1314756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12126862 TLN1 talin 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1314756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12126862 TLN1 talin 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1314756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12126862 TLN1 talin 1 gene DOID:11476 osteoporosis ISO RGD:1314756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12126862 TLN1 talin 1 gene DOID:14400 capillary leak syndrome ISO RGD:1314756 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Capillary leak syndrome PMID:25741868 12126862 TLN1 talin 1 gene DOID:630 genetic disease ISO RGD:1314756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12126862 TLN1 talin 1 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1314756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12126862 TLN1 talin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1314756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21291860 12126862 TLN1 talin 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1314756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12126862 TLN1 talin 1 gene DOID:9870 galactosemia ISO RGD:1314756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12126996 C22H13orf46 chromosome 22 C13orf46 homolog gene DOID:2222 factor X deficiency ISO RGD:13462007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12127017 RNF130 ring finger protein 130 gene DOID:630 genetic disease ISO RGD:1343865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12127017 RNF130 ring finger protein 130 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12127030 SUPT3H SPT3 homolog, SAGA and STAGA complex component gene DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome ISO RGD:1313449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome PMID:23290074 12127030 SUPT3H SPT3 homolog, SAGA and STAGA complex component gene DOID:13994 cleidocranial dysplasia ISO RGD:1313449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleidocranial dysostosis PMID:25741868|PMID:33987976 12127030 SUPT3H SPT3 homolog, SAGA and STAGA complex component gene DOID:630 genetic disease ISO RGD:1313449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:0001816 angiosarcoma ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased phosphorylation:blood vessel PMID:18700251|REF_RGD_ID:8694308 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30481203 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:22684844|REF_RGD_ID:6892915 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24090995 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:0050589 inflammatory bowel disease ISO RGD:69005 D RGD:9068941 20220825 MouseDO 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:0050700 cardiomyopathy ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:23619365|REF_RGD_ID:7495791 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:0050700 cardiomyopathy ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10618415|PMID:24448315 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22155737 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:0050902 medulloblastoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19001435 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:23596790|REF_RGD_ID:8694319 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:0060704 lymphoproliferative syndrome ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:22859607|REF_RGD_ID:6892715 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:0070113 Niemann-Pick disease type C1 treatment ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:21176403|REF_RGD_ID:10403054 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:0080199 colorectal carcinoma treatment ISO RGD:3772 D RGD:9068941 20210611 RGD PMID:29229353|REF_RGD_ID:127284843 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:18782535|REF_RGD_ID:6483030 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:0080545 hyper IgE syndrome ISO RGD:737517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyper-IgE syndrome PMID:17881745|PMID:18591412|PMID:18602572|PMID:18706697|PMID:18978467|PMID:20032313|PMID:20159255|PMID:20301786|PMID:20816194|PMID:21792878|PMID:22751495|PMID:24033266|PMID:25741868|PMID:26384563|PMID:27226025|PMID:27799162|PMID:27980540|PMID:28098554|PMID:28315006|PMID:28492532|PMID:29077208|PMID:29868029 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19796711 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma ISO RGD:737517 D RGD:9068941 20220729 RGD protein:increased expression:nasal cavity (human) PMID:17225522|REF_RGD_ID:153298933 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 ISO RGD:737517 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive PMID:28492532 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:0110597 primary ciliary dyskinesia 22 ISO RGD:737517 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 22 PMID:25741868 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:10283 prostate cancer treatment ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:15374974|REF_RGD_ID:8694291 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:10286 prostate carcinoma ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:18210874|REF_RGD_ID:2291910 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:10286 prostate carcinoma ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased activity:prostate gland PMID:11987152|REF_RGD_ID:2298538 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased phosphorylation:peripheral blood mononuclear cell PMID:29658610|REF_RGD_ID:21081544 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:10534 stomach cancer ISO RGD:737517 D RGD:9068941 20210528 RGD human cells in mouse model, associated with mental depression; protein:increased phosphorylation:stomach (human) PMID:31396300|REF_RGD_ID:126908003 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:10534 stomach cancer treatment ISO RGD:737517 D RGD:9068941 20210611 RGD human cells in mouse model PMID:29408335|REF_RGD_ID:127284846 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:10652 Alzheimer's disease ISO RGD:69005 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:dentate gyrus, CA1 field of hippocampus PMID:18813209|REF_RGD_ID:10403051 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:10652 Alzheimer's disease ISO RGD:737517 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:dentate gyrus PMID:18813209|REF_RGD_ID:10403051 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:11054 urinary bladder cancer ISO RGD:737517 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:1107 esophageal carcinoma treatment ISO RGD:737517 D RGD:9068941 20210625 RGD associated with Immune Deficiency Disease, human cells in mouse model PMID:25724470|REF_RGD_ID:127285656 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:114 heart disease treatment ISO RGD:3772 D RGD:9068941 20200609 RGD associated with Shock, Septic PMID:23404057|REF_RGD_ID:8694329 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:1227 neutropenia ISO RGD:3772 D RGD:9068941 20200609 RGD associated with T-cell large granular lymphocyte leukemia PMID:22591296|REF_RGD_ID:6892936 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:12849 autistic disorder ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:19766327|REF_RGD_ID:6483028 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:13241 Behcet's disease ISO RGD:737517 D RGD:9068941 20200609 RGD DNA:SNP: :rs2293152 (human) PMID:22205606|REF_RGD_ID:6483021 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:13241 Behcet's disease no_association ISO RGD:737517 D RGD:9068941 20200609 RGD DNA:SNP: :rs744166, rs2293152 (human) PMID:23127549|REF_RGD_ID:8694309 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:1596 depressive disorder ISO RGD:69005 D RGD:9068941 20210507 RGD protein:increased phosphorylation:hippocampus (mouse) PMID:31396300|REF_RGD_ID:126908003 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:1612 breast cancer disease_progression ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:22374428|REF_RGD_ID:8694288 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:1612 breast cancer susceptibility ISO RGD:737517 D RGD:9068941 20200609 RGD DNA:snp PMID:17639043|REF_RGD_ID:2291912 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:1612 breast cancer treatment ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:15374974|PMID:21740845|REF_RGD_ID:8694286|REF_RGD_ID:8694291 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:1724 duodenal ulcer ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:24385009|REF_RGD_ID:8694318 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:1749 squamous cell carcinoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566705|PMID:26432044 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:1749 squamous cell carcinoma disease_progression ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased phosphorylation:skin PMID:16043897|REF_RGD_ID:8694300 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:1793 pancreatic cancer ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22348037|PMID:23845849 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:1920 hyperuricemia treatment ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:23442673|REF_RGD_ID:10411892 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:1936 atherosclerosis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19330073 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:1996 rectum adenocarcinoma ISO RGD:737517 D RGD:9068941 20220812 RGD DNA:missense mutation:CDS: (rs2293152) (human) PMID:22121102|REF_RGD_ID:153323313 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:2154 nephroblastoma disease_progression ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17937859|REF_RGD_ID:2291911 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:219 colon cancer ameliorates ISO RGD:737517 D RGD:9068941 20220217 RGD human cells in mouse model PMID:29899555|REF_RGD_ID:151356919 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:219 colon cancer treatment ISO RGD:3772 D RGD:9068941 20210611 RGD PMID:33360052|REF_RGD_ID:127229954 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:224 transient cerebral ischemia ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:23764464|REF_RGD_ID:8694326 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:224 transient cerebral ischemia exacerbates ISO RGD:3772 D RGD:9068941 20230406 RGD PMID:23884942|REF_RGD_ID:8694331 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:2316 brain ischemia ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17901229 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:234 colon adenocarcinoma ISO RGD:737517 D RGD:9068941 20220812 RGD DNA:SNPs:introns: (rs12949918, rs6503695) (human) PMID:22121102|REF_RGD_ID:153323313 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:234 colon adenocarcinoma treatment ISO RGD:737517 D RGD:9068941 20210528 RGD human cells in mouse model PMID:32504672|REF_RGD_ID:125097526 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:2394 ovarian cancer treatment ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:25319391|REF_RGD_ID:19165135 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:2772 irritant dermatitis treatment ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:21511023|REF_RGD_ID:8694305 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:299 adenocarcinoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028472|PMID:26432044 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:3049 Churg-Strauss syndrome ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:22772323|REF_RGD_ID:6892720 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:305 carcinoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:3068 glioblastoma disease_progression ISO RGD:737517 D RGD:9068941 20220414 RGD mRNA, protein:increased expression:brain (human) PMID:31783691|REF_RGD_ID:151667907 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:3261 hyper IgE recurrent infection syndrome 1 ISO RGD:737517 D RGD:7240710 20180130 OMIM 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:3261 hyper IgE recurrent infection syndrome 1 ISO RGD:737517 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1 PMID:16199547|PMID:17576681|PMID:17676033|PMID:17881745|PMID:17942886|PMID:18591410|PMID:18591412|PMID:18602572|PMID:18706697|PMID:18978467|PMID:19577286|PMID:20032313|PMID:20048285|PMID:20093388|PMID:20159255|PMID:20301786|PMID:20816194|PMID:21107604|PMID:21288777|PMID:21324546|PMID:21690253|PMID:21792878|PMID:22030463|PMID:22084479|PMID:22126402|PMID:22581330|PMID:22591296|PMID:22751495|PMID:22859607|PMID:23342295|PMID:23584561|PMID:23584591|PMID:23659370|PMID:23830147|PMID:23926297|PMID:24033266|PMID:24260974|PMID:24350896|PMID:24452316|PMID:24628715|PMID:24837465|PMID:24995504|PMID:25038750|PMID:25359994|PMID:25543043|PMID:25640679|PMID:25739182|PMID:25741868|PMID:25873174|PMID:26384563|PMID:26702067|PMID:26743515|PMID:27091139|PMID:27226025|PMID:27302695|PMID:27315770|PMID:27345172|PMID:27379089|PMID:27799162|PMID:27884935|PMID:27980540|PMID:28098554|PMID:28197791|PMID:28253502|PMID:28315006|PMID:28356514|PMID:28359783|PMID:28492532|PMID:28579554|PMID:28587312|PMID:28977911|PMID:29077208|PMID:29162862|PMID:29180260|PMID:29296824|PMID:29330115|PMID:29868029|PMID:29931222|PMID:30092289|PMID:30443250|PMID:30617622|PMID:30910759|PMID:30940614|PMID:31069200|PMID:31558678|PMID:31596517|PMID:31717342|PMID:31737384|PMID:31770611|PMID:31774495|PMID:32047491|PMID:32135276|PMID:32231398|PMID:32248557|PMID:32499645|PMID:32531373|PMID:32768442|PMID:32888943|PMID:32901917|PMID:32915432|PMID:32944025|PMID:33003453|PMID:33343952|PMID:33365035|PMID:33717144|PMID:34060650|PMID:34134972|PMID:34366294|PMID:4161105|PMID:9536098 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:3314 angiomyolipoma ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:kidney PMID:15994429|REF_RGD_ID:2298537 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:lung PMID:15994429|REF_RGD_ID:2298537 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:3525 middle cerebral artery infarction ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21940958 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:3717 gastric adenocarcinoma ISO RGD:737517 D RGD:9068941 20220729 RGD mRNA:increased expression:stomach (human) PMID:33042401|REF_RGD_ID:153298934 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:3770 pulmonary fibrosis ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:22684844|REF_RGD_ID:6892915 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:3770 pulmonary fibrosis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30658076 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25812446 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549414 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:737517 D RGD:9068941 20220428 RGD protein:increased phosphorylation:lung (human) PMID:22977534|REF_RGD_ID:152023747 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:417 autoimmune disease ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25038750 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:4450 renal cell carcinoma ISO RGD:737517 D RGD:9068941 20200609 RGD DNA:snp PMID:17602083|REF_RGD_ID:2291913 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased phosphorylation:kidney PMID:12131365|REF_RGD_ID:2291917 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:5082 liver cirrhosis ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:22687286|REF_RGD_ID:6892914 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:5434 scrapie ISO RGD:69005 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:brain, nucleus PMID:17897356|REF_RGD_ID:6483034 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27064016 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:5520 head and neck squamous cell carcinoma treatment ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:24395569|REF_RGD_ID:8694302 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:737517 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:19796711 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:6000 congestive heart failure ISO RGD:737517 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:612 primary immunodeficiency disease ISO RGD:737517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:17676033|PMID:17881745|PMID:17942886|PMID:20301786|PMID:22581330|PMID:24452316|PMID:25741868|PMID:26384563|PMID:27302695|PMID:28253502|PMID:28492532|PMID:29180260|PMID:29330115|PMID:30443250|PMID:32499645|PMID:33365035|PMID:33717144 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:630 genetic disease ISO RGD:737517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20816194|PMID:22030463|PMID:22581330|PMID:23434585|PMID:25741868|PMID:27803324|PMID:28253502|PMID:28492532|PMID:29330115|PMID:30315710|PMID:31170499|PMID:9671298 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:684 hepatocellular carcinoma ISO RGD:69005 D RGD:9068941 20210702 RGD protein:increased phosphorylation:liver (mouse) PMID:28100771|REF_RGD_ID:127285675 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:7148 rheumatoid arthritis ISO RGD:737517 D RGD:9068941 20200609 RGD associated with T-cell large granular lymphocyte leukemia PMID:22591296|REF_RGD_ID:6892936 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:824 periodontitis treatment ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:26825585|REF_RGD_ID:18936995 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:8577 ulcerative colitis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438405|PMID:20228799 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:8577 ulcerative colitis ISO RGD:737517 D RGD:9068941 20200609 RGD DNA:SNP: :rs744166 (human) PMID:22269120|REF_RGD_ID:6483020 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:874 bacterial pneumonia ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:18192501|REF_RGD_ID:6892945 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:8778 Crohn's disease ISO RGD:737517 D RGD:9068941 20200609 RGD DNA:SNP: : (rs744166) (human) PMID:22269120|REF_RGD_ID:6483020 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:8778 Crohn's disease ISO RGD:737517 D RGD:9068941 20200609 RGD DNA:SNPs: : (rs744166, rs3816769) (human) PMID:20109474|REF_RGD_ID:6483027 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:8893 psoriasis ISO RGD:69005 D RGD:9068941 20220825 MouseDO OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:8893 psoriasis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143594 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:8893 psoriasis treatment ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:23594598|REF_RGD_ID:8694295 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:8893 psoriasis treatment ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:20811392|REF_RGD_ID:8694306 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:8923 skin melanoma disease_progression ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:21876460|REF_RGD_ID:8694297 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased expression:nucleus PMID:17110342|REF_RGD_ID:2291916 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:cervix epithelium PMID:16005944|REF_RGD_ID:2298536 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549414 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23382965 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9000347 Multisystem Autoimmune Disease, Infantile-Onset, 1 ISO RGD:737517 D RGD:7240710 20180130 OMIM 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9000347 Multisystem Autoimmune Disease, Infantile-Onset, 1 ISO RGD:737517 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: STAT3-related early-onset multisystem autoimmune disease PMID:17676033|PMID:17881745|PMID:17942886|PMID:20301786|PMID:21288777|PMID:21324546|PMID:22581330|PMID:24033266|PMID:24452316|PMID:25038750|PMID:25349174|PMID:25359994|PMID:25741868|PMID:27345172|PMID:27799162|PMID:28072956|PMID:28253502|PMID:28492532|PMID:29330115|PMID:30443250|PMID:30940614|PMID:32499645|PMID:32531373|PMID:32944025|PMID:33003453|PMID:33365035|PMID:33717144|PMID:34366294|PMID:4161105 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:3772 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased phosphorylation:cerebral artery PMID:24517975|REF_RGD_ID:8694356 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9000784 Fibrosis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24448315 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737517 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell;protein:increased phosphorylation PMID:12131365|REF_RGD_ID:2291917 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737517 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:decreased activity PMID:17382154|REF_RGD_ID:2291915 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737517 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:21937440|PMID:23382965|PMID:26101800 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:737517 D RGD:9068941 20200609 RGD associated with Melanoma PMID:16540670|REF_RGD_ID:8694303 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9000972 Fever ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25429137 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9000998 Brain Injuries ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:21596098|PMID:22827467|REF_RGD_ID:6483023|REF_RGD_ID:6892706 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9000998 Brain Injuries ISO RGD:3772 D RGD:9068941 20200609 RGD protein:increased phosphorylation:brain PMID:22145815|REF_RGD_ID:8694312 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:17525280|REF_RGD_ID:8694307 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:69005 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23094067|REF_RGD_ID:10403057 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9001472 Nasal Polyps ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:22959364|REF_RGD_ID:8694314 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3772 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436|PMID:28100771 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:21858029|REF_RGD_ID:8694310 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9001866 Pyogenic Granuloma ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased phosphorylation:blood vessel PMID:18700251|REF_RGD_ID:8694308 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:3772 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22745068|REF_RGD_ID:10403082 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9002170 Experimental Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29507229 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9002211 Hyperalgesia treatment ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:24098399|REF_RGD_ID:8694290 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69005 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18317887|REF_RGD_ID:2291908 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14975756|PMID:16427044|PMID:25970160 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9002457 Experimental Arthritis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15188379|PMID:21937456 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:23711144|REF_RGD_ID:10403081 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21909139 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased phosphorylation:ovary PMID:15771796|REF_RGD_ID:2291931 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:17878325|PMID:22066025|REF_RGD_ID:6483041|REF_RGD_ID:6892946 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:16303927|REF_RGD_ID:8694296 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9002928 Colonic Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028472 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:uterine cervix PMID:17311011|REF_RGD_ID:1643476 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9003936 Cardiomegaly ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10618415|PMID:19299911|PMID:24448315 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9004009 Reperfusion Injury ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21940958 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:17318196|REF_RGD_ID:8694293 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9004462 Atrophy ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16391472 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9004464 Skin Neoplasms ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:18453544|PMID:19137019|REF_RGD_ID:8694289|REF_RGD_ID:8694294 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9004484 Sepsis treatment ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:24228589|REF_RGD_ID:10411888 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737517 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26101800 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3772 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:17483332|REF_RGD_ID:2291914 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9005372 Inflammation ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20943775|PMID:21937456|PMID:24448315 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3772 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:aorta endothelium PMID:18230613|REF_RGD_ID:2291921 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:22660795|REF_RGD_ID:8694292 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9005647 Experimental Autoimmune Uveitis treatment ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:22238646|REF_RGD_ID:8694304 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9005873 Tongue Neoplasms ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:17169602|REF_RGD_ID:8694287 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9005873 Tongue Neoplasms disease_progression ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:22302289|REF_RGD_ID:8694311 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9006205 Animal Disease Models ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25812446 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9006285 Epidermal Hyperplasia ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:23870655|REF_RGD_ID:8699499 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:18424728|REF_RGD_ID:8694299 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9007188 Liver Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12957465 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737517 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:25970160|PMID:26101800|PMID:34953898 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:endometrium PMID:17311011|REF_RGD_ID:1643476 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:23796350|REF_RGD_ID:8694332 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9007842 Sepsis-Associated Encephalopathy treatment ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:23236988|REF_RGD_ID:10403076 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9008 psoriatic arthritis ISO RGD:737517 D RGD:9068941 20200609 RGD DNA:SNP: :rs744166 (human) PMID:23127549|REF_RGD_ID:8694309 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9008 psoriatic arthritis no_association ISO RGD:737517 D RGD:9068941 20200609 RGD DNA:SNP: :rs2293152 (human) PMID:23127549|REF_RGD_ID:8694309 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9008023 Memory Disorders ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17928813 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9008510 Chronic Hepatitis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9008691 Liver Injury treatment ISO RGD:3772 D RGD:9068941 20200609 RGD associated with Pancreatitis, Acute PMID:24161994|REF_RGD_ID:8694328 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9008939 Breast Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14975756 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9119 acute myeloid leukemia ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19796711 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9256 colorectal cancer ISO RGD:69005 D RGD:9068941 20220825 MouseDO OMIM:114500 | OMIM:608812 | OMIM:611469 | OMIM:612229 | OMIM:612230 | OMIM:612231 | OMIM:612232 | OMIM:612589 | OMIM:612590 | OMIM:612591 | OMIM:612592 | OMIM:615083 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9261 nasopharynx carcinoma severity ISO RGD:737517 D RGD:9068941 20210716 RGD protein:increased expression:mucosa of nasopharynx (human) PMID:30123088|REF_RGD_ID:149735327 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:skeletal muscle PMID:23043161|REF_RGD_ID:8694321 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25038750 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9970 obesity ISO RGD:3772 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:hypothalamus PMID:23397595|REF_RGD_ID:10411893 12127066 STAT3 signal transducer and activator of transcription 3 gene DOID:9997 peripartum cardiomyopathy ISO RGD:69005 D RGD:9068941 20220825 MouseDO 12127102 GET4 guided entry of tail-anchored proteins factor 4 gene DOID:630 genetic disease ISO RGD:1323234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12127102 GET4 guided entry of tail-anchored proteins factor 4 gene DOID:9007056 Congenital Disorder of Glycosylation Type IIy ISO RGD:1323234 D RGD:7240710 20230125 OMIM 12127102 GET4 guided entry of tail-anchored proteins factor 4 gene DOID:9007056 Congenital Disorder of Glycosylation Type IIy ISO RGD:1323234 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CDG IIy PMID:25741868|PMID:32395830 12127117 KIFC1 kinesin family member C1 gene DOID:0050553 JMP syndrome ISO RGD:1349353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12127117 KIFC1 kinesin family member C1 gene DOID:0060041 autism spectrum disorder ISO RGD:1349353 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12127117 KIFC1 kinesin family member C1 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1349353 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 12127117 KIFC1 kinesin family member C1 gene DOID:0080600 COVID-19 ISO RGD:1349353 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12127117 KIFC1 kinesin family member C1 gene DOID:630 genetic disease ISO RGD:1349353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12127117 KIFC1 kinesin family member C1 gene DOID:684 hepatocellular carcinoma ISO RGD:1349353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12127117 KIFC1 kinesin family member C1 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1349353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26177331 12127145 NFAM1 NFAT activating protein with ITAM motif 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1348005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 12127145 NFAM1 NFAT activating protein with ITAM motif 1 gene DOID:1059 intellectual disability ISO RGD:1348005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12127145 NFAM1 NFAT activating protein with ITAM motif 1 gene DOID:630 genetic disease ISO RGD:1348005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12127145 NFAM1 NFAT activating protein with ITAM motif 1 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1348005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 12127156 C17H2orf81 chromosome 17 C2orf81 homolog gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:2298834 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12127156 C17H2orf81 chromosome 17 C2orf81 homolog gene DOID:543 dystonia ISO RGD:2298834 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12127156 C17H2orf81 chromosome 17 C2orf81 homolog gene DOID:630 genetic disease ISO RGD:2298834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12127156 C17H2orf81 chromosome 17 C2orf81 homolog gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:2298834 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12127189 RPL19 ribosomal protein L19 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:734460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:28492532 12127199 MX1 MX dynamin like GTPase 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:1353561 D RGD:9068941 20210409 RGD DNA:SNP:promoter:-g.88G>T (rs2071430) (human) PMID:23438650|REF_RGD_ID:126777681 12127199 MX1 MX dynamin like GTPase 1 gene DOID:11166 papillomavirus infectious disease exacerbates ISO RGD:1353561 D RGD:9068941 20210409 RGD protein:increased expression:body wart (human) PMID:28736973|REF_RGD_ID:126777683 12127199 MX1 MX dynamin like GTPase 1 gene DOID:12849 autistic disorder ISO RGD:1353561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12127199 MX1 MX dynamin like GTPase 1 gene DOID:13636 Fanconi anemia ISO RGD:1353561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9389754 12127199 MX1 MX dynamin like GTPase 1 gene DOID:409 liver disease ISO RGD:1353561 D RGD:9068941 20210409 RGD associated with human immunodeficiency virus infectious disease, Chronic Hepatitis C:DNA:SNP, missense mutation:intron 3, exon 13: (rs464397, rs469390) (human) PMID:28139728|REF_RGD_ID:126777674 12127199 MX1 MX dynamin like GTPase 1 gene DOID:4492 avian influenza ISO RGD:1353561 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:178595 12127199 MX1 MX dynamin like GTPase 1 gene DOID:4492 avian influenza susceptibility ISO RGD:1353561 D RGD:9068941 20210409 RGD human gene in a mouse model PMID:28396461|REF_RGD_ID:126777675 12127199 MX1 MX dynamin like GTPase 1 gene DOID:6000 congestive heart failure ISO RGD:1353561 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12127199 MX1 MX dynamin like GTPase 1 gene DOID:630 genetic disease ISO RGD:1353561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12127199 MX1 MX dynamin like GTPase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1353561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12127199 MX1 MX dynamin like GTPase 1 gene DOID:9000371 influenza A ameliorates ISO RGD:1353561 D RGD:9068941 20210409 RGD human gene in a mouse model PMID:30945621|PMID:31653718|REF_RGD_ID:126777673|REF_RGD_ID:126777680 12127199 MX1 MX dynamin like GTPase 1 gene DOID:9001488 Human Influenza ISO RGD:1353561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12127199 MX1 MX dynamin like GTPase 1 gene DOID:9004017 Chronic Hepatitis C exacerbates ISO RGD:1353561 D RGD:9068941 20210409 RGD DNA:SNPs:promoter: (rs2071430, rs17000900) (human) PMID:29271328|REF_RGD_ID:126777679 12127199 MX1 MX dynamin like GTPase 1 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1353561 D RGD:9068941 20210409 RGD DNA:SNPs:promoter:g.-123C>A, -88G>T(human) PMID:25239021|REF_RGD_ID:11067846 12127199 MX1 MX dynamin like GTPase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12127199 MX1 MX dynamin like GTPase 1 gene DOID:9006205 Animal Disease Models ISO RGD:1353561 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12127199 MX1 MX dynamin like GTPase 1 gene DOID:9006549 Enterovirus Infections susceptibility ISO RGD:1353561 D RGD:9068941 20210409 RGD DNA:SNPs:promoter:g.-123C>A, g.-88G>T (rs17000900, rs2071430) (human) PMID:24085612|REF_RGD_ID:126777678 12127199 MX1 MX dynamin like GTPase 1 gene DOID:9006844 Streptococcal Infections ISO RGD:1353561 D RGD:9068941 20210409 RGD associated with pharyngitis;protein:increased expression:blood (human) PMID:28077283|REF_RGD_ID:126777682 12127199 MX1 MX dynamin like GTPase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1353561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12127199 MX1 MX dynamin like GTPase 1 gene DOID:9008680 Respiratory Tract Infections ISO RGD:1353561 D RGD:9068941 20210409 RGD protein:increased expression:blood (human) PMID:25542463|REF_RGD_ID:126777677 12127199 MX1 MX dynamin like GTPase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1353561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12127199 MX1 MX dynamin like GTPase 1 gene DOID:986 alopecia areata onset ISO RGD:1353561 D RGD:9068941 20210409 RGD DNA:SNP:intron 6:g.9959C>T (human) PMID:10942113|REF_RGD_ID:126777672 12127223 TMEM209 transmembrane protein 209 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12127223 TMEM209 transmembrane protein 209 gene DOID:630 genetic disease ISO RGD:1605919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12127248 TDO2 tryptophan 2,3-dioxygenase gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:68531 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35687267 12127248 TDO2 tryptophan 2,3-dioxygenase gene DOID:0111703 familial hypertryptophanemia ISO RGD:68531 D RGD:7240710 20200311 OMIM 12127248 TDO2 tryptophan 2,3-dioxygenase gene DOID:0111703 familial hypertryptophanemia ISO RGD:68531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypertryptophanemia PMID:28285122 12127248 TDO2 tryptophan 2,3-dioxygenase gene DOID:10652 Alzheimer's disease treatment ISO RGD:68532 D RGD:9068941 20200609 RGD PMID:27190010|REF_RGD_ID:13601984 12127248 TDO2 tryptophan 2,3-dioxygenase gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:68531 D RGD:9068941 20200609 RGD PMID:8873217|REF_RGD_ID:1358595 12127248 TDO2 tryptophan 2,3-dioxygenase gene DOID:12849 autistic disorder ISO RGD:68531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14755447 12127248 TDO2 tryptophan 2,3-dioxygenase gene DOID:630 genetic disease ISO RGD:68531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12127248 TDO2 tryptophan 2,3-dioxygenase gene DOID:9005587 Starvation ISO RGD:68531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7306070 12127248 TDO2 tryptophan 2,3-dioxygenase gene DOID:9005930 Endotoxemia severity ISO RGD:68532 D RGD:9068941 20201022 RGD PMID:24930766|REF_RGD_ID:39939032 12127264 FAM104A family with sequence similarity 104 member A gene DOID:0070259 congenital disorder of glycosylation type IIg ISO RGD:1602856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2G PMID:25741868|PMID:28492532 12127264 FAM104A family with sequence similarity 104 member A gene DOID:630 genetic disease ISO RGD:1602856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12127275 ART1 ADP-ribosyltransferase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12127275 ART1 ADP-ribosyltransferase 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1312119 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12127275 ART1 ADP-ribosyltransferase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12127275 ART1 ADP-ribosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1312119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12127289 PKP4 plakophilin 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1317269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12127289 PKP4 plakophilin 4 gene DOID:630 genetic disease ISO RGD:1317269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12127367 OXA1L OXA1L mitochondrial inner membrane protein gene DOID:0060439 lysinuric protein intolerance ISO RGD:1316768 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:18716612 12127367 OXA1L OXA1L mitochondrial inner membrane protein gene DOID:10283 prostate cancer ISO RGD:1316768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12127367 OXA1L OXA1L mitochondrial inner membrane protein gene DOID:2661 myoepithelioma ISO RGD:1316768 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12127367 OXA1L OXA1L mitochondrial inner membrane protein gene DOID:630 genetic disease ISO RGD:1316768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12127367 OXA1L OXA1L mitochondrial inner membrane protein gene DOID:700 mitochondrial metabolism disease ISO RGD:1316768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:30201738 12127367 OXA1L OXA1L mitochondrial inner membrane protein gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316768 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12127381 LOC481034 homeobox protein Wariai gene DOID:0050437 Danon disease ISO RGD:1603173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 12127381 LOC481034 homeobox protein Wariai gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12127381 LOC481034 homeobox protein Wariai gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1603173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 12127381 LOC481034 homeobox protein Wariai gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1603173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 12127381 LOC481034 homeobox protein Wariai gene DOID:12849 autistic disorder ISO RGD:1603173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12127381 LOC481034 homeobox protein Wariai gene DOID:630 genetic disease ISO RGD:1603173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12127427 OR13C2 olfactory receptor family 13 subfamily C member 2 gene DOID:630 genetic disease ISO RGD:1345485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12127430 PODXL podocalyxin like gene DOID:0060368 Parkinson's disease 2 ISO RGD:736843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 PMID:26864383 12127430 PODXL podocalyxin like gene DOID:0060892 late onset Parkinson's disease ISO RGD:736843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:26864383|PMID:28492532 12127430 PODXL podocalyxin like gene DOID:0060903 thrombosis ISO RGD:736843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22016802 12127430 PODXL podocalyxin like gene DOID:3407 carotid artery disease ISO RGD:736843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22016802 12127430 PODXL podocalyxin like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12127430 PODXL podocalyxin like gene DOID:630 genetic disease ISO RGD:736843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12127430 PODXL podocalyxin like gene DOID:9002304 Prostatic Neoplasms ISO RGD:736843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16434482 12127430 PODXL podocalyxin like gene DOID:9008217 Hemorrhage ISO RGD:736843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22016802 12127440 FHIP1A FHF complex subunit HOOK interacting protein 1A gene DOID:0080600 COVID-19 ISO RGD:2293812 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12127440 FHIP1A FHF complex subunit HOOK interacting protein 1A gene DOID:630 genetic disease ISO RGD:2293812 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12127440 FHIP1A FHF complex subunit HOOK interacting protein 1A gene DOID:9002189 High Myopia ISO RGD:2293812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12127467 SCYL1 SCY1 like pseudokinase 1 gene DOID:0050951 hereditary ataxia ISO RGD:1316463 D RGD:9068941 20220825 MouseDO 12127467 SCYL1 SCY1 like pseudokinase 1 gene DOID:0050972 spinocerebellar ataxia type 21 ISO RGD:1316462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 21 PMID:26581903|PMID:30531813 12127467 SCYL1 SCY1 like pseudokinase 1 gene DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome ISO RGD:1316462 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome PMID:28492532 12127467 SCYL1 SCY1 like pseudokinase 1 gene DOID:0111155 autosomal recessive spinocerebellar ataxia 21 ISO RGD:1316462 D RGD:7240710 20180418 OMIM 12127467 SCYL1 SCY1 like pseudokinase 1 gene DOID:0111155 autosomal recessive spinocerebellar ataxia 21 ISO RGD:1316462 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | ClinVar Annotator: match by term: CALFAN syndrome PMID:25741868|PMID:28492532|PMID:29419818|PMID:32146038|PMID:32860008 12127467 SCYL1 SCY1 like pseudokinase 1 gene DOID:1059 intellectual disability ISO RGD:1316462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12127467 SCYL1 SCY1 like pseudokinase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1316462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12127467 SCYL1 SCY1 like pseudokinase 1 gene DOID:2746 glycogen storage disease V ISO RGD:1316462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12127467 SCYL1 SCY1 like pseudokinase 1 gene DOID:3070 high grade glioma ISO RGD:1316462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12127467 SCYL1 SCY1 like pseudokinase 1 gene DOID:630 genetic disease ISO RGD:1316462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12127467 SCYL1 SCY1 like pseudokinase 1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1316462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12127467 SCYL1 SCY1 like pseudokinase 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1316462 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12127467 SCYL1 SCY1 like pseudokinase 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1316462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12127488 RTTN rotatin gene DOID:0050581 brachydactyly ISO RGD:1315475 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:25741868 12127488 RTTN rotatin gene DOID:0060376 Joubert syndrome with orofaciodigital defect ISO RGD:1315475 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome VI PMID:25741868 12127488 RTTN rotatin gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1315475 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12127488 RTTN rotatin gene DOID:0070297 primary microcephaly ISO RGD:1315475 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:25741868|PMID:26608784 12127488 RTTN rotatin gene DOID:0110986 Joubert Syndrome 17 ISO RGD:1315475 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:25741868 12127488 RTTN rotatin gene DOID:1059 intellectual disability ISO RGD:1315475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 12127488 RTTN rotatin gene DOID:10907 microcephaly ISO RGD:1315475 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital microcephaly | ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:26608784|PMID:26846091|PMID:28492532 12127488 RTTN rotatin gene DOID:11383 cryptorchidism ISO RGD:1315475 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Unilateral cryptorchidism PMID:25741868 12127488 RTTN rotatin gene DOID:1826 epilepsy ISO RGD:1315475 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Seizures PMID:25741868 12127488 RTTN rotatin gene DOID:630 genetic disease ISO RGD:1315475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12127488 RTTN rotatin gene DOID:6420 pulmonary valve stenosis ISO RGD:1315475 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12127488 RTTN rotatin gene DOID:8445 intestinal volvulus ISO RGD:1315475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12127488 RTTN rotatin gene DOID:9003865 Microcephaly, Short Stature, and Polymicrogyria with or without Seizures ISO RGD:1315475 D RGD:7240710 20180130 OMIM 12127488 RTTN rotatin gene DOID:9003865 Microcephaly, Short Stature, and Polymicrogyria with or without Seizures ISO RGD:1315475 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures PMID:22939636|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26608784|PMID:26940245|PMID:28492532|PMID:30121372 12127488 RTTN rotatin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12127488 RTTN rotatin gene DOID:9005603 Muscle Hypotonia ISO RGD:1315475 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:25741868 12127488 RTTN rotatin gene DOID:9008419 Volvulus Of Midgut ISO RGD:1315475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12127548 FBXO17 F-box protein 17 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1318004 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12127548 FBXO17 F-box protein 17 gene DOID:630 genetic disease ISO RGD:1318004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12127548 FBXO17 F-box protein 17 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1318004 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12127558 PRICKLE2 prickle planar cell polarity protein 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1315504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12127558 PRICKLE2 prickle planar cell polarity protein 2 gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1315504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:17576681|PMID:21276947|PMID:23711981|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26942291|PMID:26942292|PMID:28166811|PMID:28492532|PMID:29358611|PMID:9536098 12127558 PRICKLE2 prickle planar cell polarity protein 2 gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1315504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:17576681|PMID:21276947|PMID:23711981|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26942291|PMID:26942292|PMID:28492532|PMID:29358611|PMID:9536098 12127558 PRICKLE2 prickle planar cell polarity protein 2 gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1315504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:21276947|PMID:25326635|PMID:25741868|PMID:26942291|PMID:26942292 12127558 PRICKLE2 prickle planar cell polarity protein 2 gene DOID:1826 epilepsy ISO RGD:1315504 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12127558 PRICKLE2 prickle planar cell polarity protein 2 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1315504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:28492532|PMID:29358611 12127558 PRICKLE2 prickle planar cell polarity protein 2 gene DOID:630 genetic disease ISO RGD:1315504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 12127558 PRICKLE2 prickle planar cell polarity protein 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1315504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:21276947|PMID:23711981|PMID:25741868|PMID:26467025|PMID:26942291|PMID:26942292|PMID:28492532|PMID:29358611 12127558 PRICKLE2 prickle planar cell polarity protein 2 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1315504 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myoclonus epilepsy | ClinVar Annotator: match by term: myoclonic epilepsy PMID:28492532|PMID:29358611 12127558 PRICKLE2 prickle planar cell polarity protein 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1315504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12127558 PRICKLE2 prickle planar cell polarity protein 2 gene DOID:9008631 progressive myoclonus epilepsy 5 ISO RGD:1315504 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 PMID:17576681|PMID:21276947|PMID:23711981|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26942291|PMID:26942292|PMID:28492532|PMID:29358611|PMID:9536098 12127584 PLPPR3 phospholipid phosphatase related 3 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1602461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 12127584 PLPPR3 phospholipid phosphatase related 3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1602461 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12127584 PLPPR3 phospholipid phosphatase related 3 gene DOID:630 genetic disease ISO RGD:1602461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12127600 NEK10 NIMA related kinase 10 gene DOID:0111851 primary ciliary dyskinesia 44 ISO RGD:1350326 D RGD:7240710 20200318 OMIM 12127600 NEK10 NIMA related kinase 10 gene DOID:0111851 primary ciliary dyskinesia 44 ISO RGD:1350326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 44 PMID:25741868 12127600 NEK10 NIMA related kinase 10 gene DOID:630 genetic disease ISO RGD:1350326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12127651 GXYLT1 glucoside xylosyltransferase 1 gene DOID:13938 amenorrhea ISO RGD:1606923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12127651 GXYLT1 glucoside xylosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1606923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12127673 STAG3 STAG3 cohesin complex component gene DOID:0070168 spermatogenic failure 3 ISO RGD:737601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:31682730|PMID:35176428 12127673 STAG3 STAG3 cohesin complex component gene DOID:0080865 primary ovarian insufficiency 8 ISO RGD:737601 D RGD:7240710 20180130 OMIM 12127673 STAG3 STAG3 cohesin complex component gene DOID:0080865 primary ovarian insufficiency 8 ISO RGD:737601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 8 PMID:24597867|PMID:25741868|PMID:28393351|PMID:30006057 12127673 STAG3 STAG3 cohesin complex component gene DOID:0112350 spermatogenic failure 61 ISO RGD:737601 D RGD:7240710 20211222 OMIM 12127673 STAG3 STAG3 cohesin complex component gene DOID:0112350 spermatogenic failure 61 ISO RGD:737601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 61 PMID:25741868|PMID:31125047|PMID:31682730 12127673 STAG3 STAG3 cohesin complex component gene DOID:10787 premature menopause ISO RGD:737601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature menopause PMID:25741868 12127673 STAG3 STAG3 cohesin complex component gene DOID:1924 hypogonadism ISO RGD:737601 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypergonadotropic hypogonadism PMID:25741868 12127673 STAG3 STAG3 cohesin complex component gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:737601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12127673 STAG3 STAG3 cohesin complex component gene DOID:5426 primary ovarian insufficiency ISO RGD:737601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure | ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:35176428 12127673 STAG3 STAG3 cohesin complex component gene DOID:630 genetic disease ISO RGD:737601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12127673 STAG3 STAG3 cohesin complex component gene DOID:9007456 Female Infertility ISO RGD:737601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Female infertility PMID:25741868 12127713 GBP1 guanylate binding protein 1 gene DOID:630 genetic disease ISO RGD:1323562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12127713 GBP1 guanylate binding protein 1 gene DOID:9001488 Human Influenza ISO RGD:1323562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12127729 PRRC2B proline rich coiled-coil 2B gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346299 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12127729 PRRC2B proline rich coiled-coil 2B gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1346299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 12127729 PRRC2B proline rich coiled-coil 2B gene DOID:630 genetic disease ISO RGD:1346299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12127768 FUT10 fucosyltransferase 10 gene DOID:630 genetic disease ISO RGD:1354084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12127791 CFAP100 cilia and flagella associated protein 100 gene DOID:630 genetic disease ISO RGD:1602811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12127791 CFAP100 cilia and flagella associated protein 100 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1602811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12127791 CFAP100 cilia and flagella associated protein 100 gene DOID:9270 alkaptonuria ISO RGD:1602811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12127814 UPK3A uroplakin 3A gene DOID:0080206 CAKUT1 ISO RGD:1321651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1 PMID:15888565|PMID:16731295 12127814 UPK3A uroplakin 3A gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1321651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12127814 UPK3A uroplakin 3A gene DOID:1059 intellectual disability ISO RGD:1321651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12127814 UPK3A uroplakin 3A gene DOID:630 genetic disease ISO RGD:1321651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12127814 UPK3A uroplakin 3A gene DOID:9003763 Renal Hypodysplasia/Aplasia 1 ISO RGD:1321651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 1 PMID:15888565|PMID:27657687|PMID:28492532 12127814 UPK3A uroplakin 3A gene DOID:9620 vesicoureteral reflux ISO RGD:1321652 D RGD:9068941 20220825 MouseDO OMIM:193000 | OMIM:314550 | OMIM:610878 | OMIM:613674 | OMIM:614317 | OMIM:614318 | OMIM:614319 | OMIM:614674 | OMIM:615390 | OMIM:615963 12127823 XG Xg glycoprotein gene DOID:12849 autistic disorder ISO RGD:1349793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12127823 XG Xg glycoprotein gene DOID:630 genetic disease ISO RGD:1349793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12127823 XG Xg glycoprotein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12127841 KMT2C lysine methyltransferase 2C gene DOID:0060041 autism spectrum disorder ISO RGD:1347083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12127841 KMT2C lysine methyltransferase 2C gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1347083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:25741868 12127841 KMT2C lysine methyltransferase 2C gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12127841 KMT2C lysine methyltransferase 2C gene DOID:0080202 adenoid cystic carcinoma disease_progression ISO RGD:1347083 D RGD:9068941 20211224 RGD PMID:31483290|REF_RGD_ID:150429736 12127841 KMT2C lysine methyltransferase 2C gene DOID:0080471 developmental and epileptic encephalopathy 92 ISO RGD:1347083 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood, 2 PMID:25741868 12127841 KMT2C lysine methyltransferase 2C gene DOID:0080598 Kleefstra syndrome 2 ISO RGD:1347083 D RGD:7240710 20190315 OMIM 12127841 KMT2C lysine methyltransferase 2C gene DOID:0080598 Kleefstra syndrome 2 ISO RGD:1347083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 2 | ClinVar Annotator: match by term: Kleefstra syndrome due to a point mutation PMID:22726846|PMID:22832583|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532|PMID:29069077|PMID:29276005|PMID:29926297|PMID:30352910|PMID:30981987|PMID:36672956 12127841 KMT2C lysine methyltransferase 2C gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1347083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:18348270|PMID:25606385|PMID:28492532 12127841 KMT2C lysine methyltransferase 2C gene DOID:10283 prostate cancer ISO RGD:1347083 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland (human) PMID:24200674|REF_RGD_ID:9587761 12127841 KMT2C lysine methyltransferase 2C gene DOID:10534 stomach cancer ISO RGD:1347083 D RGD:9068941 20211224 RGD DNA:SNPs, haplotypes: rs6943984, rs4725443 (human) PMID:23991983|REF_RGD_ID:150537042 12127841 KMT2C lysine methyltransferase 2C gene DOID:10534 stomach cancer ISO RGD:1347083 D RGD:9068941 20211224 RGD DNA:missense mutation:CDS:S3660L (human) PMID:24965397|REF_RGD_ID:150537043 12127841 KMT2C lysine methyltransferase 2C gene DOID:1059 intellectual disability ISO RGD:1347083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24033266|PMID:24728327|PMID:25326635|PMID:25741868|PMID:28492532 12127841 KMT2C lysine methyltransferase 2C gene DOID:10907 microcephaly ISO RGD:1347083 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12127841 KMT2C lysine methyltransferase 2C gene DOID:11054 urinary bladder cancer ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 12127841 KMT2C lysine methyltransferase 2C gene DOID:11372 megacolon ISO RGD:1347083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12127841 KMT2C lysine methyltransferase 2C gene DOID:12849 autistic disorder ISO RGD:1347083 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868 12127841 KMT2C lysine methyltransferase 2C gene DOID:1324 lung cancer ISO RGD:1347083 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic PMID:25741868|PMID:28492532 12127841 KMT2C lysine methyltransferase 2C gene DOID:1749 squamous cell carcinoma severity ISO RGD:1347083 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:25303977|REF_RGD_ID:9588232 12127841 KMT2C lysine methyltransferase 2C gene DOID:2600 laryngeal carcinoma ISO RGD:1347083 D RGD:9068941 20220217 RGD mRNA:decreased expression:larynx PMID:25633166|REF_RGD_ID:151356763 12127841 KMT2C lysine methyltransferase 2C gene DOID:2671 transitional cell carcinoma ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 12127841 KMT2C lysine methyltransferase 2C gene DOID:2843 long QT syndrome ISO RGD:1347083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12127841 KMT2C lysine methyltransferase 2C gene DOID:299 adenocarcinoma ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 12127841 KMT2C lysine methyltransferase 2C gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 12127841 KMT2C lysine methyltransferase 2C gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347083 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:25151357|REF_RGD_ID:9588233 12127841 KMT2C lysine methyltransferase 2C gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1347083 D RGD:9068941 20220217 RGD PMID:33665490|REF_RGD_ID:150523771 12127841 KMT2C lysine methyltransferase 2C gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1347083 D RGD:9068941 20220217 RGD PMID:32867667|REF_RGD_ID:151356760 12127841 KMT2C lysine methyltransferase 2C gene DOID:3910 lung adenocarcinoma onset ISO RGD:1347083 D RGD:9068941 20220217 RGD PMID:30821106|REF_RGD_ID:151356761 12127841 KMT2C lysine methyltransferase 2C gene DOID:4927 Klatskin's tumor onset ISO RGD:1347083 D RGD:9068941 20210430 RGD DNA:mutations PMID:33387086|REF_RGD_ID:126848756 12127841 KMT2C lysine methyltransferase 2C gene DOID:4947 cholangiocarcinoma ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 12127841 KMT2C lysine methyltransferase 2C gene DOID:5409 lung small cell carcinoma ISO RGD:1347083 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 12127841 KMT2C lysine methyltransferase 2C gene DOID:5517 stomach carcinoma severity ISO RGD:1347083 D RGD:9068941 20200609 RGD protein:decreased expression:stomach (human) PMID:25222251|REF_RGD_ID:9588234 12127841 KMT2C lysine methyltransferase 2C gene DOID:630 genetic disease ISO RGD:1347083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24728327|PMID:25741868|PMID:28492532 12127841 KMT2C lysine methyltransferase 2C gene DOID:684 hepatocellular carcinoma ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22634756 12127841 KMT2C lysine methyltransferase 2C gene DOID:7148 rheumatoid arthritis treatment ISO RGD:1587205 D RGD:9068941 20220217 RGD PMID:33914205|REF_RGD_ID:151356764 12127841 KMT2C lysine methyltransferase 2C gene DOID:8541 Sezary's disease ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 12127841 KMT2C lysine methyltransferase 2C gene DOID:9000217 Stomach Neoplasms ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 12127841 KMT2C lysine methyltransferase 2C gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12127841 KMT2C lysine methyltransferase 2C gene DOID:9003155 Parasitic Liver Diseases ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 12127841 KMT2C lysine methyltransferase 2C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12127841 KMT2C lysine methyltransferase 2C gene DOID:9008086 Developmental Disabilities ISO RGD:1347083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22832583|PMID:25741868|PMID:29926297|PMID:30352910|PMID:30981987 12127841 KMT2C lysine methyltransferase 2C gene DOID:9009213 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES ISO RGD:1347083 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities PMID:25741868 12127841 KMT2C lysine methyltransferase 2C gene DOID:9119 acute myeloid leukemia ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24794707 12127841 KMT2C lysine methyltransferase 2C gene DOID:9261 nasopharynx carcinoma ISO RGD:1347083 D RGD:9068941 20220217 RGD PMID:31646828|REF_RGD_ID:151356762 12127841 KMT2C lysine methyltransferase 2C gene DOID:9538 multiple myeloma ISO RGD:1347083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12127908 ZNF346 zinc finger protein 346 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1317625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12127908 ZNF346 zinc finger protein 346 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1317625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12127908 ZNF346 zinc finger protein 346 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1317625 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 12127908 ZNF346 zinc finger protein 346 gene DOID:630 genetic disease ISO RGD:1317625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12127908 ZNF346 zinc finger protein 346 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1317625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12127908 ZNF346 zinc finger protein 346 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1317625 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:0050465 Muir-Torre syndrome ISO RGD:732571 D RGD:9068941 20220825 MouseDO OMIM:158320 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:10283 prostate cancer ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:SNP:intron:increased risk in carriers of minor allele of SNP rs760317 PMID:15705877|REF_RGD_ID:2289878 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:10283 prostate cancer ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:SNP:intron:reduced risk in carriers of minor allele of SNP rs760317 PMID:17548701|REF_RGD_ID:2289869 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:10283 prostate cancer ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter:methylation percentage 15% in tumors vs no methylation in nonmalignant prostate PMID:11839671|REF_RGD_ID:2289896 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:11054 urinary bladder cancer ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter:hypermethylation found in 16/98 (16%) of tumors, associated with poor survival PMID:11751381|REF_RGD_ID:2289897 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:11054 urinary bladder cancer ISO RGD:1344220 D RGD:9068941 20200609 RGD associated with Schistosomiasis;DNA:hypermethylation:urinary bladder PMID:15154012|REF_RGD_ID:2301233 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:11054 urinary bladder cancer ISO RGD:732571 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:15591090|REF_RGD_ID:2301232 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:11372 megacolon ISO RGD:1344220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:12849 autistic disorder ISO RGD:1344220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:13938 amenorrhea ISO RGD:1344220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:1749 squamous cell carcinoma ISO RGD:1344220 D RGD:9068941 20200609 RGD cervical squamous cell carcinoma; DNA:hypermethylation,loss of heterozygosity:promoter,locus:hypermethylation in 24%, LOH in 10% of tumors PMID:17467893|REF_RGD_ID:2289871 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:2999 granulosa cell tumor ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter, ovary PMID:15574200|REF_RGD_ID:2298508 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:3008 invasive ductal carcinoma ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity,hypermethylation:breast:LOH in 8/40 tumors (20%), hypermethylation in 22/46 tumors (48%), significant positive association found (p=0.04) PMID:12231533|REF_RGD_ID:2289894 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:303 substance-related disorder ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:305 carcinoma ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16061637 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11788890 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1344220 D RGD:9068941 20200609 RGD PMID:9850082|REF_RGD_ID:13792770 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:intron: PMID:9635574|REF_RGD_ID:13792815 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:4440 seminoma ISO RGD:1344220 D RGD:9068941 20200609 RGD protein:decreased expression::no expression observed in less mature seminomatous neoplastic tissues; re-expression seen in mature teratomatous tissues PMID:12379753|REF_RGD_ID:2289879 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:4450 renal cell carcinoma ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:translocation::t(3;8)(p14;q24.1) results in disruption of FHIT and TRC8/RNF139 genes PMID:17539022|REF_RGD_ID:2289870 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:4450 renal cell carcinoma ISO RGD:1344220 D RGD:9068941 20200609 RGD protein:decreased expression::reduced or negative expression in 78% of clear cell RCCs PMID:10530564|REF_RGD_ID:2289903 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:5419 schizophrenia ISO RGD:1344220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1344220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:28580594 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:630 genetic disease ISO RGD:1344220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:670 amphetamine abuse ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:684 hepatocellular carcinoma ISO RGD:620448 D RGD:9068941 20200609 RGD PMID:12112319|REF_RGD_ID:632723 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9000217 Stomach Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12958204 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:14670177|REF_RGD_ID:2301235 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:732571 D RGD:9068941 20230504 RGD PMID:30107138|REF_RGD_ID:329349307 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17548701 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 RGD mRNA,DNA:alternative form,loss of heterozygosity::abnormal transcript in 2/54 cases (4%), LOH in 8/54 cases (15%) PMID:9569038|REF_RGD_ID:2289905 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 RGD associated with smoking; DNA:decreased expression,deletions,gene instability::frequency of genomic alterations significantly higher for smokers than nonsmokers (P<0.02) PMID:16115913|REF_RGD_ID:2289874 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 RGD cervical squamous cell carcinoma; DNA:hypermethylation,loss of heterozygosity:promoter,locus:hypermethylation in 24%, LOH in 10% of tumors PMID:17467893|REF_RGD_ID:2289871 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9003373 Uterine Cervical Neoplasms no_association ISO RGD:1344220 D RGD:9068941 20200609 RGD mRNA:alternative form::all tumors examined had full-length transcripts despite LOH at 3p14 in 39%, frequency of minor transcripts the same in tumors and normal tissues PMID:9462708|REF_RGD_ID:2289906 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9003566 Mesothelioma ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14569398|PMID:18038314 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9004643 Urologic Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23618899 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9005172 Lung Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10959838|PMID:16061637 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9005804 Vulvar Neoplasms disease_progression ISO RGD:1344220 D RGD:9068941 20200609 RGD protein:decreased expression:vulva, squamous epithelial cell PMID:16608079|REF_RGD_ID:2301231 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9007188 Liver Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12112319 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9007715 Endometrial Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium:loss of expression in 41/111 (37%) of tumors, significantly associated with poor survival and/or poor prognostic indicators PMID:10873085|REF_RGD_ID:2289899 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9008939 Breast Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 RGD lobular breast cancer; DNA:loss of heterozygosity::LOH within the FHIT gene in 16% of cases, significant association between LOH and reduced or negative expression PMID:10930803|REF_RGD_ID:2289898 12127929 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9008939 Breast Neoplasms severity ISO RGD:1344220 D RGD:9068941 20200609 RGD protein:decreased expression:breast:frequency increases from 0% in nonproliferative benign breast disease to 41% in invasive carcinoma PMID:17164758|REF_RGD_ID:2289872 12128020 MIR23A microRNA mir-23a gene DOID:0060319 cardiac arrest ISO RGD:2325395 D RGD:9068941 20230202 RGD RNA:decreased expression:hippocampus, cortex; PMID:30824348|REF_RGD_ID:155882547 12128020 MIR23A microRNA mir-23a gene DOID:12849 autistic disorder ISO RGD:1351663 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20374639 12128020 MIR23A microRNA mir-23a gene DOID:13207 proliferative diabetic retinopathy ISO RGD:1351663 D RGD:9068941 20230202 RGD miRNA:increased expression:blood serum (human) PMID:24970617|REF_RGD_ID:155882576 12128020 MIR23A microRNA mir-23a gene DOID:14557 primary pulmonary hypertension ISO RGD:1351663 D RGD:9068941 20230202 RGD RNA:increased expression:serum PMID:25815108|REF_RGD_ID:155882560 12128020 MIR23A microRNA mir-23a gene DOID:3021 acute kidney failure ISO RGD:1351663 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 12128020 MIR23A microRNA mir-23a gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1351663 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:22975021 12128020 MIR23A microRNA mir-23a gene DOID:4448 macular degeneration ISO RGD:1351663 D RGD:9068941 20200609 RGD RNA:decreased expression:retinal pigment epithelial cell: PMID:21693609|REF_RGD_ID:10053591 12128020 MIR23A microRNA mir-23a gene DOID:6000 congestive heart failure ISO RGD:1351663 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12128020 MIR23A microRNA mir-23a gene DOID:684 hepatocellular carcinoma ISO RGD:1351663 D RGD:9068941 20200609 RGD miRNA:increased expression:liver PMID:22318941|REF_RGD_ID:14694846 12128020 MIR23A microRNA mir-23a gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1351663 D RGD:9068941 20230202 RGD RNA:increased expression:serum PMID:29771433|REF_RGD_ID:155882557 12128020 MIR23A microRNA mir-23a gene DOID:9002676 Cerebral Hemorrhage ameliorates ISO RGD:2325395 D RGD:9068941 20230128 RGD PMID:33403590|REF_RGD_ID:155882539 12128020 MIR23A microRNA mir-23a gene DOID:9003049 Femur Head Necrosis ameliorates ISO RGD:2325395 D RGD:9068941 20230202 RGD PMID:29039554|REF_RGD_ID:155882564 12128020 MIR23A microRNA mir-23a gene DOID:9003936 Cardiomegaly ISO RGD:1607670 D RGD:9068941 20230202 RGD PMID:22084234|REF_RGD_ID:155882559 12128020 MIR23A microRNA mir-23a gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351663 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12128020 MIR23A microRNA mir-23a gene DOID:9256 colorectal cancer disease_progression ISO RGD:1351663 D RGD:9068941 20220825 RGD RNA:increased expression:colorectum, blood (human) PMID:23758639|REF_RGD_ID:153344558 12128020 MIR23A microRNA mir-23a gene DOID:9970 obesity ISO RGD:1351663 D RGD:9068941 20230202 RGD associated with hepatocellular carcinoma;RNA:increased expression:exosome, liver: PMID:31321740|REF_RGD_ID:155882550 12128118 MATCAP1 microtubule associated tyrosine carboxypeptidase 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:2302259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12128118 MATCAP1 microtubule associated tyrosine carboxypeptidase 1 gene DOID:0080600 COVID-19 ISO RGD:2302259 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12128118 MATCAP1 microtubule associated tyrosine carboxypeptidase 1 gene DOID:630 genetic disease ISO RGD:2302259 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12128155 EFR3A EFR3 homolog A gene DOID:630 genetic disease ISO RGD:1604382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12128191 LHX3 LIM homeobox 3 gene DOID:0050777 Joubert syndrome ISO RGD:1352685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12128191 LHX3 LIM homeobox 3 gene DOID:0060224 atrial fibrillation ISO RGD:1352685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12128191 LHX3 LIM homeobox 3 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1352685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12128191 LHX3 LIM homeobox 3 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1352685 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12128191 LHX3 LIM homeobox 3 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1352685 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12128191 LHX3 LIM homeobox 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1352685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12128191 LHX3 LIM homeobox 3 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1352685 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12128191 LHX3 LIM homeobox 3 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1352685 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12128191 LHX3 LIM homeobox 3 gene DOID:0081097 Rafiq syndrome ISO RGD:1352685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12128191 LHX3 LIM homeobox 3 gene DOID:13938 amenorrhea ISO RGD:1352685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 12128191 LHX3 LIM homeobox 3 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1352685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12128191 LHX3 LIM homeobox 3 gene DOID:3652 Leigh disease ISO RGD:1352685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12128191 LHX3 LIM homeobox 3 gene DOID:630 genetic disease ISO RGD:1352685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29261175|PMID:30262920 12128191 LHX3 LIM homeobox 3 gene DOID:9003666 Combined Pituitary Hormone Deficiency ISO RGD:1352685 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined PMID:16940453|PMID:25741868|PMID:28492532 12128191 LHX3 LIM homeobox 3 gene DOID:9004924 Combined Pituitary Hormone Deficiency, 3 ISO RGD:1352685 D RGD:7240710 20180130 OMIM 12128191 LHX3 LIM homeobox 3 gene DOID:9004924 Combined Pituitary Hormone Deficiency, 3 ISO RGD:1352685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome PMID:10835633|PMID:12780757|PMID:16199547|PMID:16394081|PMID:16940453|PMID:17327381|PMID:17438671|PMID:18407919|PMID:19837867|PMID:21249393|PMID:22286346|PMID:25741868|PMID:28492532|PMID:29261175|PMID:30262920 12128191 LHX3 LIM homeobox 3 gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:1352685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 PMID:28492532 12128191 LHX3 LIM homeobox 3 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1352685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 12128191 LHX3 LIM homeobox 3 gene DOID:9008340 Combined Pituitary Hormone Deficiency, 2 ISO RGD:1352685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive 12128191 LHX3 LIM homeobox 3 gene DOID:9406 hypopituitarism ISO RGD:736998 D RGD:9068941 20220825 MouseDO OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 12128191 LHX3 LIM homeobox 3 gene DOID:9410 panhypopituitarism ISO RGD:1352685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined PMID:16940453|PMID:25741868|PMID:28492532 12128201 GP9 glycoprotein IX platelet gene DOID:0111947 immunodeficiency 21 ISO RGD:1351167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12128201 GP9 glycoprotein IX platelet gene DOID:1588 thrombocytopenia ISO RGD:1351167 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:14510954|PMID:25370924|PMID:25741868|PMID:28131619|PMID:28492532|PMID:28765788|PMID:31064749|PMID:8049428|PMID:8481514 12128201 GP9 glycoprotein IX platelet gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1351167 D RGD:7240710 20180130 OMIM 12128201 GP9 glycoprotein IX platelet gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1351167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome | ClinVar Annotator: match by term: Von Willebrand factor receptor deficiency PMID:11167791|PMID:14510954|PMID:21173099|PMID:21699652|PMID:23402648|PMID:25370924|PMID:25539746|PMID:25741868|PMID:28131619|PMID:28395735|PMID:28492532|PMID:28561420|PMID:28765788|PMID:29636940|PMID:31064749|PMID:32581362|PMID:34355501|PMID:8049428|PMID:8481514|PMID:9163595|PMID:9432024 12128201 GP9 glycoprotein IX platelet gene DOID:2217 Bernard-Soulier syndrome severity ISO RGD:1351167 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.182A>G(p.N61S)(human) PMID:28131619|REF_RGD_ID:13464128 12128201 GP9 glycoprotein IX platelet gene DOID:630 genetic disease ISO RGD:1351167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12128201 GP9 glycoprotein IX platelet gene DOID:9001316 Bernard-Soulier Syndrome, Type C ISO RGD:1351167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bernard-Soulier syndrome type C PMID:11167791|PMID:12100158|PMID:13442197|PMID:14510954|PMID:21173099|PMID:21699652|PMID:23402648|PMID:25370924|PMID:25539746|PMID:25741868|PMID:28131619|PMID:28395735|PMID:28492532|PMID:28765788|PMID:29636940|PMID:31064749|PMID:32581362|PMID:34355501|PMID:8049428|PMID:8481514|PMID:9163595|PMID:9432024|PMID:9886312 12128201 GP9 glycoprotein IX platelet gene DOID:9005876 Thrombocytopenic Purpura ISO RGD:1351167 D RGD:9068941 20200609 RGD PMID:23103637|REF_RGD_ID:11040532 12128201 GP9 glycoprotein IX platelet gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1351167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 12128201 GP9 glycoprotein IX platelet gene DOID:9270 alkaptonuria ISO RGD:1351167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12128207 DNER delta/notch like EGF repeat containing gene DOID:630 genetic disease ISO RGD:1605895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12128226 TMEM81 transmembrane protein 81 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12128226 TMEM81 transmembrane protein 81 gene DOID:12849 autistic disorder ISO RGD:1606867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12128226 TMEM81 transmembrane protein 81 gene DOID:1540 parathyroid carcinoma ISO RGD:1606867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12128226 TMEM81 transmembrane protein 81 gene DOID:630 genetic disease ISO RGD:1606867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12128226 TMEM81 transmembrane protein 81 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606867 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12128226 TMEM81 transmembrane protein 81 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12128248 CLDN3 claudin 3 gene DOID:0060041 autism spectrum disorder ISO RGD:68632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12128248 CLDN3 claudin 3 gene DOID:10923 sickle cell anemia ISO RGD:68632 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12128248 CLDN3 claudin 3 gene DOID:12849 autistic disorder ISO RGD:68632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12128248 CLDN3 claudin 3 gene DOID:13976 peptic esophagitis ISO RGD:68425 D RGD:9068941 20200609 RGD protein:altered expression:epithelial cell, esophagus: PMID:21373849|REF_RGD_ID:11344880 12128248 CLDN3 claudin 3 gene DOID:1928 Williams-Beuren syndrome ISO RGD:68632 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 12128248 CLDN3 claudin 3 gene DOID:1929 supravalvular aortic stenosis ISO RGD:68632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740 12128248 CLDN3 claudin 3 gene DOID:4481 allergic rhinitis ISO RGD:68632 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:33441633 12128248 CLDN3 claudin 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:68632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12128248 CLDN3 claudin 3 gene DOID:5419 schizophrenia ISO RGD:68632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12128248 CLDN3 claudin 3 gene DOID:630 genetic disease ISO RGD:68632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12128248 CLDN3 claudin 3 gene DOID:8445 intestinal volvulus ISO RGD:68632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12128248 CLDN3 claudin 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:68632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12128248 CLDN3 claudin 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12128248 CLDN3 claudin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12128248 CLDN3 claudin 3 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:68425 D RGD:9068941 20200609 RGD protein:decreased expression:colon: PMID:19929946|REF_RGD_ID:2325127 12128248 CLDN3 claudin 3 gene DOID:9008419 Volvulus Of Midgut ISO RGD:68632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12128253 RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase gene DOID:0111590 Cohen syndrome ISO RGD:1317214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12128253 RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase gene DOID:2377 multiple sclerosis ISO RGD:1317214 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 12128253 RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:1317214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12128267 MACF1 microtubule actin crosslinking factor 1 gene DOID:0050453 lissencephaly ISO RGD:1352225 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:25741868|PMID:30471716 12128267 MACF1 microtubule actin crosslinking factor 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1352225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 12128267 MACF1 microtubule actin crosslinking factor 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1352225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12128267 MACF1 microtubule actin crosslinking factor 1 gene DOID:0112228 lissencephaly 9 with complex brainstem malformation ISO RGD:1352225 D RGD:7240710 20190315 OMIM 12128267 MACF1 microtubule actin crosslinking factor 1 gene DOID:0112228 lissencephaly 9 with complex brainstem malformation ISO RGD:1352225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly 9 with complex brainstem malformation | ClinVar Annotator: match by term: Spectraplakinopathy type I | ClinVar Annotator: match by term: lissencephaly with brainstem hypoplasia PMID:24507697|PMID:25741868|PMID:28492532|PMID:30471716|PMID:33600046 12128267 MACF1 microtubule actin crosslinking factor 1 gene DOID:10283 prostate cancer ISO RGD:1352225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12128267 MACF1 microtubule actin crosslinking factor 1 gene DOID:1059 intellectual disability ISO RGD:1352225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12128267 MACF1 microtubule actin crosslinking factor 1 gene DOID:1826 epilepsy ISO RGD:1352225 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12128267 MACF1 microtubule actin crosslinking factor 1 gene DOID:630 genetic disease ISO RGD:1352225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12128267 MACF1 microtubule actin crosslinking factor 1 gene DOID:9004125 Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas ISO RGD:1352225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Facial hemangioma PMID:31474318 12128267 MACF1 microtubule actin crosslinking factor 1 gene DOID:9007661 Dwarfism ISO RGD:1352225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12128267 MACF1 microtubule actin crosslinking factor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1352225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12128417 TM7SF2 transmembrane 7 superfamily member 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1322541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12128417 TM7SF2 transmembrane 7 superfamily member 2 gene DOID:1059 intellectual disability ISO RGD:1322541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12128417 TM7SF2 transmembrane 7 superfamily member 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1322541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12128417 TM7SF2 transmembrane 7 superfamily member 2 gene DOID:2746 glycogen storage disease V ISO RGD:1322541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12128417 TM7SF2 transmembrane 7 superfamily member 2 gene DOID:3070 high grade glioma ISO RGD:1322541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12128417 TM7SF2 transmembrane 7 superfamily member 2 gene DOID:630 genetic disease ISO RGD:1322541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12128437 ANXA8L1 annexin A8-like 1 gene DOID:5419 schizophrenia ISO RGD:1354199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12128437 ANXA8L1 annexin A8-like 1 gene DOID:630 genetic disease ISO RGD:1354199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12128453 SOX30 SRY-box transcription factor 30 gene DOID:12336 male infertility ISO RGD:1602491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 12128453 SOX30 SRY-box transcription factor 30 gene DOID:1324 lung cancer ISO RGD:1602491 D RGD:9068941 20220303 RGD DNA:hypermethylation:lung: PMID:25435374|REF_RGD_ID:151660338 12128453 SOX30 SRY-box transcription factor 30 gene DOID:1324 lung cancer exacerbates ISO RGD:1602491 D RGD:9068941 20220303 RGD PMID:25435374|REF_RGD_ID:151660338 12128453 SOX30 SRY-box transcription factor 30 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:1602491 D RGD:9068941 20220303 RGD PMID:26330328|REF_RGD_ID:11535423 12128453 SOX30 SRY-box transcription factor 30 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1602491 D RGD:9068941 20220303 RGD PMID:32443323|REF_RGD_ID:151660331 12128453 SOX30 SRY-box transcription factor 30 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1602491 D RGD:9068941 20220303 RGD PMID:26330328|REF_RGD_ID:11535423 12128453 SOX30 SRY-box transcription factor 30 gene DOID:630 genetic disease ISO RGD:1602491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12128453 SOX30 SRY-box transcription factor 30 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1602491 D RGD:9068941 20220303 RGD PMID:30312695|REF_RGD_ID:151660341 12128453 SOX30 SRY-box transcription factor 30 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1602491 D RGD:9068941 20220303 RGD PMID:30312695|REF_RGD_ID:151660341 12128453 SOX30 SRY-box transcription factor 30 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1602491 D RGD:9068941 20220303 RGD associated with lung non-small cell carcinoma;mRNA, protein:decreased expression: : PMID:29739711|REF_RGD_ID:151660333 12128453 SOX30 SRY-box transcription factor 30 gene DOID:9005172 Lung Neoplasms ISO RGD:1602491 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25435374 12128453 SOX30 SRY-box transcription factor 30 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:1313914 D RGD:9068941 20220303 RGD PMID:29739711|REF_RGD_ID:151660333 12128453 SOX30 SRY-box transcription factor 30 gene DOID:9009121 lung metastasis ameliorates ISO RGD:1313914 D RGD:9068941 20220303 RGD PMID:29739711|REF_RGD_ID:151660333 12128468 CYFIP2 cytoplasmic FMR1 interacting protein 2 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1312845 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 12128468 CYFIP2 cytoplasmic FMR1 interacting protein 2 gene DOID:0080430 developmental and epileptic encephalopathy 65 ISO RGD:1312845 D RGD:7240710 20190315 OMIM 12128468 CYFIP2 cytoplasmic FMR1 interacting protein 2 gene DOID:0080430 developmental and epileptic encephalopathy 65 ISO RGD:1312845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 65 PMID:21107423|PMID:25741868|PMID:25741869|PMID:25741870|PMID:26582918|PMID:28492532|PMID:29534297|PMID:29667327|PMID:30664714 12128468 CYFIP2 cytoplasmic FMR1 interacting protein 2 gene DOID:1059 intellectual disability ISO RGD:1312845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:30664714 12128468 CYFIP2 cytoplasmic FMR1 interacting protein 2 gene DOID:1826 epilepsy ISO RGD:1312845 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:29667327|PMID:30664714 12128468 CYFIP2 cytoplasmic FMR1 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1312845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:29667327|PMID:30664714 12128468 CYFIP2 cytoplasmic FMR1 interacting protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1312845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741870|PMID:30664714 12128504 CDH2 cadherin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:731820 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:c.686A>C(p.Q229P), c.1219G>A (p.D407N)(human) PMID:28280076|REF_RGD_ID:13524622 12128504 CDH2 cadherin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:731820 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.1219G>A(p.D407N)(human) PMID:28326674|REF_RGD_ID:13524623 12128504 CDH2 cadherin 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:731821 D RGD:9068941 20200609 RGD PMID:7502046|REF_RGD_ID:734737 12128504 CDH2 cadherin 2 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:731820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 12128504 CDH2 cadherin 2 gene DOID:0080948 agenesis of corpus callosum, cardiac, ocular, and genital syndrome ISO RGD:731820 D RGD:7240710 20200910 OMIM 12128504 CDH2 cadherin 2 gene DOID:0080948 agenesis of corpus callosum, cardiac, ocular, and genital syndrome ISO RGD:731820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of corpus callosum, cardiac, ocular, and genital syndrome PMID:18798333|PMID:25741868|PMID:31585109|PMID:31650526 12128504 CDH2 cadherin 2 gene DOID:0080959 arrhythmogenic right ventricular dysplasia 14 ISO RGD:731820 D RGD:7240710 20200701 OMIM 12128504 CDH2 cadherin 2 gene DOID:0080959 arrhythmogenic right ventricular dysplasia 14 ISO RGD:731820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 14 PMID:25741868|PMID:28280076|PMID:28326674|PMID:28492532 12128504 CDH2 cadherin 2 gene DOID:1059 intellectual disability ISO RGD:731820 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12128504 CDH2 cadherin 2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731821 D RGD:9068941 20230302 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 12128504 CDH2 cadherin 2 gene DOID:1824 status epilepticus ISO RGD:731820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12125071 12128504 CDH2 cadherin 2 gene DOID:630 genetic disease ISO RGD:731820 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12128504 CDH2 cadherin 2 gene DOID:630 genetic disease ISO RGD:731820 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30847666|PMID:31585109 12128504 CDH2 cadherin 2 gene DOID:9000019 Attention Deficit-Hyperactivity Disorder 8 ISO RGD:731820 D RGD:7240710 20220720 OMIM 12128504 CDH2 cadherin 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:731820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12128504 CDH2 cadherin 2 gene DOID:9000918 Disease Progression ISO RGD:731820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23876460 12128504 CDH2 cadherin 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23876460 12128504 CDH2 cadherin 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:731820 D RGD:9068941 20200924 RGD mRNA:increased expression:lung PMID:25593290|REF_RGD_ID:38500244 12128504 CDH2 cadherin 2 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:731820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum agenesis | ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868|PMID:31585109 12128504 CDH2 cadherin 2 gene DOID:9002245 Intestinal Neoplasms ISO RGD:731821 D RGD:9068941 20200609 RGD PMID:7502046|REF_RGD_ID:734737 12128504 CDH2 cadherin 2 gene DOID:9002955 Nerve Degeneration ISO RGD:731820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12387456 12128504 CDH2 cadherin 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 12128504 CDH2 cadherin 2 gene DOID:9006205 Animal Disease Models ISO RGD:731820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 12128504 CDH2 cadherin 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:731820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12128504 CDH2 cadherin 2 gene DOID:9008939 Breast Neoplasms ISO RGD:731820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 12128524 PPP1R10 protein phosphatase 1 regulatory subunit 10 gene DOID:1059 intellectual disability ISO RGD:732967 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability, moderate PMID:25741868 12128524 PPP1R10 protein phosphatase 1 regulatory subunit 10 gene DOID:11372 megacolon ISO RGD:732967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12128524 PPP1R10 protein phosphatase 1 regulatory subunit 10 gene DOID:630 genetic disease ISO RGD:732967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12128554 NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1343133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12128554 NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:0080233 autosomal dominant intellectual developmental disorder 50 ISO RGD:1343133 D RGD:7240710 20190315 OMIM 12128554 NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:0080233 autosomal dominant intellectual developmental disorder 50 ISO RGD:1343133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 | ClinVar Annotator: match by term: NAA15-related syndrome PMID:23665959|PMID:25741868|PMID:26785492|PMID:28191889|PMID:28303347|PMID:28492532|PMID:28990276|PMID:29656860|PMID:30792901|PMID:31127942 12128554 NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:1059 intellectual disability ISO RGD:1343133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities 12128554 NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:12849 autistic disorder ISO RGD:1343133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic disorder 12128554 NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:2234 focal epilepsy ISO RGD:1343133 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure 12128554 NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:630 genetic disease ISO RGD:1343133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28191889|PMID:28303347|PMID:28492532|PMID:29656860|PMID:30564305|PMID:30792901 12128554 NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12128554 NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1343133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28191889|PMID:28303347|PMID:29656860 12128554 NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:9008582 Developmental Disease ISO RGD:1343133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12128577 S1PR3 sphingosine-1-phosphate receptor 3 gene DOID:630 genetic disease ISO RGD:1352881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12128582 PODXL2 podocalyxin like 2 gene DOID:0111947 immunodeficiency 21 ISO RGD:1347781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12128582 PODXL2 podocalyxin like 2 gene DOID:630 genetic disease ISO RGD:1347781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12128582 PODXL2 podocalyxin like 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 12128582 PODXL2 podocalyxin like 2 gene DOID:9270 alkaptonuria ISO RGD:1347781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12128594 ARMC6 armadillo repeat containing 6 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1348624 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 12128594 ARMC6 armadillo repeat containing 6 gene DOID:630 genetic disease ISO RGD:1348624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12128594 ARMC6 armadillo repeat containing 6 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1348624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12128609 PALM paralemmin gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1344376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 12128609 PALM paralemmin gene DOID:5339 cyclic hematopoiesis ISO RGD:1344376 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12128609 PALM paralemmin gene DOID:630 genetic disease ISO RGD:1344376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12128631 UBQLNL ubiquilin like gene DOID:630 genetic disease ISO RGD:1605287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12128636 ZFP64 ZFP64 zinc finger protein gene DOID:630 genetic disease ISO RGD:1317439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12128659 AMZ1 archaelysin family metallopeptidase 1 gene DOID:0111957 immunodeficiency 11A ISO RGD:1605859 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency PMID:28492532 12128659 AMZ1 archaelysin family metallopeptidase 1 gene DOID:630 genetic disease ISO RGD:1605859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12128679 MRPL24 mitochondrial ribosomal protein L24 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1344820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12128679 MRPL24 mitochondrial ribosomal protein L24 gene DOID:0111940 immunodeficiency 42 ISO RGD:1344820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12128679 MRPL24 mitochondrial ribosomal protein L24 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12128679 MRPL24 mitochondrial ribosomal protein L24 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12128679 MRPL24 mitochondrial ribosomal protein L24 gene DOID:1540 parathyroid carcinoma ISO RGD:1344820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12128679 MRPL24 mitochondrial ribosomal protein L24 gene DOID:5812 MHC class II deficiency ISO RGD:1344820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12128679 MRPL24 mitochondrial ribosomal protein L24 gene DOID:630 genetic disease ISO RGD:1344820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12128679 MRPL24 mitochondrial ribosomal protein L24 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12128689 CRKL CRK like proto-oncogene, adaptor protein gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1318357 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12128689 CRKL CRK like proto-oncogene, adaptor protein gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1318357 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12128689 CRKL CRK like proto-oncogene, adaptor protein gene DOID:10286 prostate carcinoma ISO RGD:1318357 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:prostate gland PMID:16391854|REF_RGD_ID:7488899 12128689 CRKL CRK like proto-oncogene, adaptor protein gene DOID:1059 intellectual disability ISO RGD:1318357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12128689 CRKL CRK like proto-oncogene, adaptor protein gene DOID:11198 DiGeorge syndrome ISO RGD:1318357 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12128689 CRKL CRK like proto-oncogene, adaptor protein gene DOID:11372 megacolon ISO RGD:1318357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12128689 CRKL CRK like proto-oncogene, adaptor protein gene DOID:12583 velocardiofacial syndrome ISO RGD:1318357 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12128689 CRKL CRK like proto-oncogene, adaptor protein gene DOID:12849 autistic disorder ISO RGD:1318357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12128689 CRKL CRK like proto-oncogene, adaptor protein gene DOID:1520 colon carcinoma ISO RGD:1318357 D RGD:9068941 20200609 RGD PMID:16391854|REF_RGD_ID:7488899 12128689 CRKL CRK like proto-oncogene, adaptor protein gene DOID:1826 epilepsy ISO RGD:1318357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12128689 CRKL CRK like proto-oncogene, adaptor protein gene DOID:2394 ovarian cancer ISO RGD:1318357 D RGD:9068941 20200609 RGD PMID:16391854|REF_RGD_ID:7488899 12128689 CRKL CRK like proto-oncogene, adaptor protein gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1318357 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:23686806|REF_RGD_ID:7488897 12128689 CRKL CRK like proto-oncogene, adaptor protein gene DOID:3905 lung carcinoma ISO RGD:1318357 D RGD:9068941 20200609 RGD PMID:16391854|REF_RGD_ID:7488899 12128689 CRKL CRK like proto-oncogene, adaptor protein gene DOID:4159 skin cancer ISO RGD:1318357 D RGD:9068941 20200609 RGD PMID:16391854|REF_RGD_ID:7488899 12128689 CRKL CRK like proto-oncogene, adaptor protein gene DOID:5419 schizophrenia ISO RGD:1318357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12128689 CRKL CRK like proto-oncogene, adaptor protein gene DOID:612 primary immunodeficiency disease ISO RGD:1318357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12128689 CRKL CRK like proto-oncogene, adaptor protein gene DOID:8552 chronic myeloid leukemia ISO RGD:1318357 D RGD:9068941 20200609 RGD protein:increased phosphorylation:blood PMID:17900686|REF_RGD_ID:13674160 12128689 CRKL CRK like proto-oncogene, adaptor protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12128689 CRKL CRK like proto-oncogene, adaptor protein gene DOID:9007661 Dwarfism ISO RGD:1318357 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12128689 CRKL CRK like proto-oncogene, adaptor protein gene DOID:9008939 Breast Neoplasms ISO RGD:1318357 D RGD:9068941 20200609 RGD PMID:16391854|REF_RGD_ID:7488899 12128696 RSAD2 radical S-adenosyl methionine domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1345303 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12128696 RSAD2 radical S-adenosyl methionine domain containing 2 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:8778396 D RGD:9068941 20200609 RGD PMID:23018837|REF_RGD_ID:11554170 12128696 RSAD2 radical S-adenosyl methionine domain containing 2 gene DOID:1273 respiratory syncytial virus infectious disease treatment ISO RGD:1345303 D RGD:9068941 20200609 RGD PMID:23018837|REF_RGD_ID:11554170 12128696 RSAD2 radical S-adenosyl methionine domain containing 2 gene DOID:6000 congestive heart failure ISO RGD:1345303 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12128696 RSAD2 radical S-adenosyl methionine domain containing 2 gene DOID:630 genetic disease ISO RGD:1345303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12128696 RSAD2 radical S-adenosyl methionine domain containing 2 gene DOID:9001488 Human Influenza ISO RGD:1345303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12128696 RSAD2 radical S-adenosyl methionine domain containing 2 gene DOID:9006205 Animal Disease Models ISO RGD:1345303 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12128696 RSAD2 radical S-adenosyl methionine domain containing 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1345303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12128706 E2F6 E2F transcription factor 6 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 12128706 E2F6 E2F transcription factor 6 gene DOID:5419 schizophrenia ISO RGD:1605732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12128706 E2F6 E2F transcription factor 6 gene DOID:630 genetic disease ISO RGD:1605732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12128706 E2F6 E2F transcription factor 6 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1605732 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35225430 12128732 RPS13 ribosomal protein S13 gene DOID:1059 intellectual disability ISO RGD:737303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12128742 IFT52 intraflagellar transport 52 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1322228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:27466190|PMID:28492532|PMID:29068549 12128742 IFT52 intraflagellar transport 52 gene DOID:2234 focal epilepsy ISO RGD:1322228 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12128742 IFT52 intraflagellar transport 52 gene DOID:630 genetic disease ISO RGD:1322228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12128742 IFT52 intraflagellar transport 52 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1322228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12128742 IFT52 intraflagellar transport 52 gene DOID:9006222 Short-Rib Thoracic Dysplasia 16 with or without Polydactyly ISO RGD:1322228 D RGD:7240710 20190315 OMIM 12128742 IFT52 intraflagellar transport 52 gene DOID:9006222 Short-Rib Thoracic Dysplasia 16 with or without Polydactyly ISO RGD:1322228 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 16 with or without polydactyly PMID:25741868|PMID:26880018|PMID:27466190|PMID:28492532|PMID:30242358|PMID:31042281 12128742 IFT52 intraflagellar transport 52 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12128760 CENPL centromere protein L gene DOID:1540 parathyroid carcinoma ISO RGD:1605310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12128760 CENPL centromere protein L gene DOID:3755 antithrombin III deficiency ISO RGD:1605310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 12128760 CENPL centromere protein L gene DOID:630 genetic disease ISO RGD:1605310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12128760 CENPL centromere protein L gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1605310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 12128760 CENPL centromere protein L gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 12128760 CENPL centromere protein L gene DOID:9007747 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation ISO RGD:1605310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 12128760 CENPL centromere protein L gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12128769 PIGH phosphatidylinositol glycan anchor biosynthesis class H gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1322902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 12128769 PIGH phosphatidylinositol glycan anchor biosynthesis class H gene DOID:10283 prostate cancer ISO RGD:1322902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12128769 PIGH phosphatidylinositol glycan anchor biosynthesis class H gene DOID:630 genetic disease ISO RGD:1322902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:33156547|PMID:35445667 12128769 PIGH phosphatidylinositol glycan anchor biosynthesis class H gene DOID:9003249 Glycosylphosphatidylinositol Biosynthesis Defect 17 ISO RGD:1322902 D RGD:7240710 20190315 OMIM 12128769 PIGH phosphatidylinositol glycan anchor biosynthesis class H gene DOID:9003249 Glycosylphosphatidylinositol Biosynthesis Defect 17 ISO RGD:1322902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 17 PMID:25741868|PMID:29573052|PMID:29603516|PMID:33156547|PMID:35445667 12128781 CLEC11A C-type lectin domain containing 11A gene DOID:11476 osteoporosis ISO RGD:1604062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27976999 12128781 CLEC11A C-type lectin domain containing 11A gene DOID:13001 carotid stenosis ISO RGD:1604062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26564003 12128781 CLEC11A C-type lectin domain containing 11A gene DOID:14067 Plasmodium falciparum malaria ISO RGD:1604062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19884328 12128781 CLEC11A C-type lectin domain containing 11A gene DOID:1790 malignant mesothelioma ISO RGD:1604062 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 12128781 CLEC11A C-type lectin domain containing 11A gene DOID:2355 anemia ISO RGD:1604062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19884328 12128781 CLEC11A C-type lectin domain containing 11A gene DOID:630 genetic disease ISO RGD:1604062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12128792 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 gene DOID:0060470 salt and pepper syndrome ISO RGD:1346095 D RGD:7240710 20190315 OMIM 12128792 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 gene DOID:0060470 salt and pepper syndrome ISO RGD:1346095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GM3 synthase deficiency | ClinVar Annotator: match by term: Infantile epilepsy syndrome PMID:15502825|PMID:16199547|PMID:17576681|PMID:18414213|PMID:22990144|PMID:23436467|PMID:24026681|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26649472|PMID:27232954|PMID:28492532|PMID:28726809|PMID:30576498|PMID:32404165|PMID:34906476|PMID:9536098 12128792 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1346095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 12128792 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 gene DOID:1059 intellectual disability ISO RGD:1346095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25741868 12128792 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 gene DOID:1826 epilepsy ISO RGD:1346095 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12128792 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 gene DOID:630 genetic disease ISO RGD:1346095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:30576498|PMID:32404165|PMID:34906476 12128792 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1346095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 12128803 MT-CO3 mitochondrially encoded cytochrome c oxidase III gene DOID:0050753 cerebellar ataxia ISO RGD:1350980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 12128803 MT-CO3 mitochondrially encoded cytochrome c oxidase III gene DOID:0060067 Pearson syndrome ISO RGD:1350980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pearson syndrome 12128803 MT-CO3 mitochondrially encoded cytochrome c oxidase III gene DOID:12930 dilated cardiomyopathy ISO RGD:1350980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24088041|PMID:26633545 12128803 MT-CO3 mitochondrially encoded cytochrome c oxidase III gene DOID:12934 Kearns-Sayre syndrome ISO RGD:1350980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kearns-Sayre syndrome PMID:20301382 12128803 MT-CO3 mitochondrially encoded cytochrome c oxidase III gene DOID:1826 epilepsy ISO RGD:1350980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28027978 12128803 MT-CO3 mitochondrially encoded cytochrome c oxidase III gene DOID:3328 temporal lobe epilepsy ISO RGD:1350980 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17092649 12128803 MT-CO3 mitochondrially encoded cytochrome c oxidase III gene DOID:3650 lactic acidosis ISO RGD:1350980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizures and lactic acidosis PMID:12915481|PMID:8739943 12128803 MT-CO3 mitochondrially encoded cytochrome c oxidase III gene DOID:3652 Leigh disease ISO RGD:1350980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:11063732|PMID:15823923|PMID:16358358|PMID:17403843|PMID:18587274|PMID:20301353|PMID:23645088|PMID:25741868|PMID:30143805|PMID:7496173|PMID:7573056|PMID:7804416|PMID:8037217|PMID:8240356 12128803 MT-CO3 mitochondrially encoded cytochrome c oxidase III gene DOID:3687 MELAS syndrome ISO RGD:1350980 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke PMID:25741868 12128803 MT-CO3 mitochondrially encoded cytochrome c oxidase III gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1350980 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:11063732|PMID:12414820|PMID:25741868|PMID:8630495|PMID:9634511 12128803 MT-CO3 mitochondrially encoded cytochrome c oxidase III gene DOID:585 nephrolithiasis ISO RGD:1350980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrolithiasis PMID:25741868 12128803 MT-CO3 mitochondrially encoded cytochrome c oxidase III gene DOID:6419 tetralogy of Fallot ISO RGD:1350980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot 12128803 MT-CO3 mitochondrially encoded cytochrome c oxidase III gene DOID:700 mitochondrial metabolism disease ISO RGD:1350980 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: mitochondrial disorder PMID:12414820|PMID:12915481|PMID:20301382|PMID:8739943 12128803 MT-CO3 mitochondrially encoded cytochrome c oxidase III gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1350980 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leber optic atrophy PMID:12915481|PMID:20301353|PMID:25741868|PMID:28027978|PMID:30143805|PMID:7573056|PMID:7804416|PMID:8037217|PMID:8240356|PMID:8739943 12128803 MT-CO3 mitochondrially encoded cytochrome c oxidase III gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:1350980 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:12414820|PMID:8630495 12128803 MT-CO3 mitochondrially encoded cytochrome c oxidase III gene DOID:9007527 Mitochondrial Myopathy, Infantile, Transient ISO RGD:1350980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient PMID:12414820 12128805 INSYN2B inhibitory synaptic factor family member 2B gene DOID:0111951 immunodeficiency 40 ISO RGD:3497372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:25741868|PMID:26083206|PMID:28492532 12128805 INSYN2B inhibitory synaptic factor family member 2B gene DOID:630 genetic disease ISO RGD:3497372 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12128828 ADAR adenosine deaminase RNA specific gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12128828 ADAR adenosine deaminase RNA specific gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:736989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:19060901|PMID:20301648|PMID:22129056|PMID:23001123|PMID:24033266|PMID:24262145|PMID:25456137|PMID:25604658|PMID:25741868|PMID:26629815|PMID:28139822|PMID:28492532|PMID:28561207|PMID:29221912|PMID:29603717|PMID:31772029|PMID:33289110|PMID:33307271|PMID:33723056|PMID:34343497|PMID:9889202 12128828 ADAR adenosine deaminase RNA specific gene DOID:0050716 methylmalonic aciduria and homocystinuria type cblD ISO RGD:736989 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD PMID:25741868|PMID:28492532 12128828 ADAR adenosine deaminase RNA specific gene DOID:0060257 dyschromatosis symmetrica hereditaria ISO RGD:736989 D RGD:7240710 20180130 OMIM 12128828 ADAR adenosine deaminase RNA specific gene DOID:0060257 dyschromatosis symmetrica hereditaria ISO RGD:736989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities PMID:12916015|PMID:15102079|PMID:15146470|PMID:15347341|PMID:15489923|PMID:15659327|PMID:15955093|PMID:16199547|PMID:16536805|PMID:16817193|PMID:16917490|PMID:16935814|PMID:17225010|PMID:17569068|PMID:17576681|PMID:18705826|PMID:19017046|PMID:19060901|PMID:20069304|PMID:20186421|PMID:20301648|PMID:20439151|PMID:21182352|PMID:21211811|PMID:21924887|PMID:21933234|PMID:22129056|PMID:22336994|PMID:22974014|PMID:23001123|PMID:24033266|PMID:24262145|PMID:24950769|PMID:25243380|PMID:25326637|PMID:25456137|PMID:25468572|PMID:25604658|PMID:25640679|PMID:25741868|PMID:25982145|PMID:26372505|PMID:26629815|PMID:26802932|PMID:26892242|PMID:27937139|PMID:28139822|PMID:28492532|PMID:28502085|PMID:28561207|PMID:29185800|PMID:29221912|PMID:29536976|PMID:29603717|PMID:29691679|PMID:29775506|PMID:29896739|PMID:29915444|PMID:30564185|PMID:30692772|PMID:30755392|PMID:31423758|PMID:31772029|PMID:32593192|PMID:32801363|PMID:32996714|PMID:33289110|PMID:33307271|PMID:33723056|PMID:34343497|PMID:8627722|PMID:9536098|PMID:9889202 12128828 ADAR adenosine deaminase RNA specific gene DOID:0111940 immunodeficiency 42 ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12128828 ADAR adenosine deaminase RNA specific gene DOID:0111962 combined immunodeficiency ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25741868 12128828 ADAR adenosine deaminase RNA specific gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12128828 ADAR adenosine deaminase RNA specific gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:736989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 12128828 ADAR adenosine deaminase RNA specific gene DOID:10534 stomach cancer exacerbates ISO RGD:736989 D RGD:9068941 20210402 RGD mRNA:increased expression:mucosa of stomach (human) PMID:30563560|REF_RGD_ID:14700703 12128828 ADAR adenosine deaminase RNA specific gene DOID:10907 microcephaly ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12128828 ADAR adenosine deaminase RNA specific gene DOID:11166 papillomavirus infectious disease exacerbates ISO RGD:736989 D RGD:9068941 20210402 RGD associated with human immunodeficiency virus infectious disease;DNA:SNPs, haplotype:introns, 3' utr: multiple (human) PMID:31882741|REF_RGD_ID:125097510 12128828 ADAR adenosine deaminase RNA specific gene DOID:1540 parathyroid carcinoma ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12128828 ADAR adenosine deaminase RNA specific gene DOID:2030 anxiety disorder ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anxiety PMID:25741868 12128828 ADAR adenosine deaminase RNA specific gene DOID:2121 ectodermal dysplasia ISO RGD:736989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aplasia cutis congenita PMID:25741868|PMID:28492532|PMID:30755392 12128828 ADAR adenosine deaminase RNA specific gene DOID:3744 cervical squamous cell carcinoma disease_progression ISO RGD:736989 D RGD:9068941 20210402 RGD protein:increased expression:cervix squamous epithelium (human) PMID:28109322|REF_RGD_ID:125097518 12128828 ADAR adenosine deaminase RNA specific gene DOID:5082 liver cirrhosis ameliorates ISO RGD:736989 D RGD:9068941 20210402 RGD associated with human immunodeficiency virus infectious disease, hepatitis C;DNA:SNPs:exon 2, 3' utr:multiple (human) PMID:29018269|REF_RGD_ID:125097516 12128828 ADAR adenosine deaminase RNA specific gene DOID:5812 MHC class II deficiency ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12128828 ADAR adenosine deaminase RNA specific gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital combined immunodeficiency PMID:25741868 12128828 ADAR adenosine deaminase RNA specific gene DOID:630 genetic disease ISO RGD:736989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15146470|PMID:15659327|PMID:19060901|PMID:20186421|PMID:20300939|PMID:20301648|PMID:22129056|PMID:22974014|PMID:23001123|PMID:24033266|PMID:24262145|PMID:24950769|PMID:25456137|PMID:25468572|PMID:25604658|PMID:25741868|PMID:26629815|PMID:28139822|PMID:28492532|PMID:28561207|PMID:29185800|PMID:29221912|PMID:29603717|PMID:29896739|PMID:29915444|PMID:31772029|PMID:32593192|PMID:33289110|PMID:33307271|PMID:33723056|PMID:34343497|PMID:9889202 12128828 ADAR adenosine deaminase RNA specific gene DOID:8927 learning disability ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:25741868 12128828 ADAR adenosine deaminase RNA specific gene DOID:9000469 Viral Myocarditis ISO RGD:732453 D RGD:9068941 20210402 RGD associated with Coxsackievirus Infections PMID:27584568|REF_RGD_ID:125097517 12128828 ADAR adenosine deaminase RNA specific gene DOID:9000469 Viral Myocarditis ISO RGD:732453 D RGD:9068941 20210402 RGD protein:alternative form:heart (mouse) PMID:30669342|REF_RGD_ID:125097512 12128828 ADAR adenosine deaminase RNA specific gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:736989 D RGD:9068941 20210402 RGD associated with human immunodeficiency virus infectious disease;DNA:missense mutation:exon 2, 3' utr:p.K384R (rs2229857, rs1127326) (human) PMID:29906476|REF_RGD_ID:125097514 12128828 ADAR adenosine deaminase RNA specific gene DOID:9004017 Chronic Hepatitis C no_association ISO RGD:736989 D RGD:9068941 20210402 RGD DNA:SNP:exon: (rs1127309) (human) PMID:26911666|REF_RGD_ID:11554370 12128828 ADAR adenosine deaminase RNA specific gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:736989 D RGD:9068941 20210402 RGD DNA:silent mutation:CDS:p.V849V (rs1127309) (human) PMID:19434718|REF_RGD_ID:125097513 12128828 ADAR adenosine deaminase RNA specific gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:736989 D RGD:9068941 20210402 RGD DNA:snps, haplotype: (rs7515339, rs903323) (human) PMID:17979507|REF_RGD_ID:38599150 12128828 ADAR adenosine deaminase RNA specific gene DOID:9004610 Acute Lung Injury treatment ISO RGD:71099 D RGD:9068941 20200609 RGD PMID:18520702|REF_RGD_ID:10755331 12128828 ADAR adenosine deaminase RNA specific gene DOID:9005099 Salmonella Infections, Animal ISO RGD:732453 D RGD:9068941 20210402 RGD mRNA:splice variant:liver (mouse) PMID:12228285|REF_RGD_ID:125097511 12128828 ADAR adenosine deaminase RNA specific gene DOID:9007522 Aicardi-Goutieres Syndrome 6 ISO RGD:736989 D RGD:7240710 20180130 OMIM 12128828 ADAR adenosine deaminase RNA specific gene DOID:9007522 Aicardi-Goutieres Syndrome 6 ISO RGD:736989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 PMID:15146470|PMID:15955093|PMID:16817193|PMID:17576681|PMID:19017046|PMID:19060901|PMID:20301648|PMID:22129056|PMID:22974014|PMID:23001123|PMID:24033266|PMID:24262145|PMID:25243380|PMID:25326637|PMID:25456137|PMID:25604658|PMID:25741868|PMID:25982145|PMID:26372505|PMID:26629815|PMID:26802932|PMID:27937139|PMID:28139822|PMID:28492532|PMID:28561207|PMID:29185800|PMID:29221912|PMID:29536976|PMID:29603717|PMID:29691679|PMID:29775506|PMID:29915444|PMID:31772029|PMID:32801363|PMID:32996714|PMID:33289110|PMID:33307271|PMID:33723056|PMID:34343497|PMID:9536098|PMID:9889202 12128828 ADAR adenosine deaminase RNA specific gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:736989 D RGD:9068941 20210402 RGD DNA:SNP:enhancer: (rs4845384) (human) PMID:24351124|REF_RGD_ID:125097515 12128828 ADAR adenosine deaminase RNA specific gene DOID:9008939 Breast Neoplasms ISO RGD:736989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28188287 12128828 ADAR adenosine deaminase RNA specific gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12128828 ADAR adenosine deaminase RNA specific gene DOID:9256 colorectal cancer ISO RGD:736989 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Colorectal cancer 12128847 NRM nurim gene DOID:11372 megacolon ISO RGD:1352240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12128847 NRM nurim gene DOID:630 genetic disease ISO RGD:1352240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12128914 MUC19 mucin 19, oligomeric gene DOID:0050589 inflammatory bowel disease ISO RGD:1343631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983784 12128914 MUC19 mucin 19, oligomeric gene DOID:12894 Sjogren's syndrome ISO RGD:1320940 D RGD:9068941 20220825 MouseDO OMIM:270150 12128914 MUC19 mucin 19, oligomeric gene DOID:12894 Sjogren's syndrome ISO RGD:1343631 D RGD:9068941 20200609 RGD mRNA:decreased expression:conjunctival epithelial cell PMID:18184611|REF_RGD_ID:7364736 12128914 MUC19 mucin 19, oligomeric gene DOID:1324 lung cancer ISO RGD:1343631 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12128914 MUC19 mucin 19, oligomeric gene DOID:5409 lung small cell carcinoma ISO RGD:1343631 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 12128959 HOXD11 homeobox D11 gene DOID:0080006 bone development disease ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7925020 12128959 HOXD11 homeobox D11 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1346896 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12128959 HOXD11 homeobox D11 gene DOID:12336 male infertility ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7925020 12128959 HOXD11 homeobox D11 gene DOID:12849 autistic disorder ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19540081 12128959 HOXD11 homeobox D11 gene DOID:3070 high grade glioma ISO RGD:1346896 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:33614284 12128959 HOXD11 homeobox D11 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22227861 12128959 HOXD11 homeobox D11 gene DOID:557 kidney disease ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7596412 12128959 HOXD11 homeobox D11 gene DOID:630 genetic disease ISO RGD:1346896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12128959 HOXD11 homeobox D11 gene DOID:7148 rheumatoid arthritis ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 12128959 HOXD11 homeobox D11 gene DOID:9000918 Disease Progression ISO RGD:1346896 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:33614284 12128959 HOXD11 homeobox D11 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303177 12128959 HOXD11 homeobox D11 gene DOID:9004998 Kyphoscoliosis ISO RGD:7730597 D RGD:9068941 20200609 RGD mRNA:decreased expression:verterbra PMID:18327665|REF_RGD_ID:11354896 12128959 HOXD11 homeobox D11 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7596412|PMID:7925020|PMID:8620844 12128959 HOXD11 homeobox D11 gene DOID:9007364 Mouth Neoplasms ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22227861 12128959 HOXD11 homeobox D11 gene DOID:9008939 Breast Neoplasms ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15818620 12128990 NRXN2 neurexin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:735900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21424692 12128990 NRXN2 neurexin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:735901 D RGD:9068941 20220825 MouseDO 12128990 NRXN2 neurexin 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:735900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 12128990 NRXN2 neurexin 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12128990 NRXN2 neurexin 2 gene DOID:1059 intellectual disability ISO RGD:735900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12128990 NRXN2 neurexin 2 gene DOID:12849 autistic disorder ISO RGD:735900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12128990 NRXN2 neurexin 2 gene DOID:1826 epilepsy ISO RGD:735900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12128990 NRXN2 neurexin 2 gene DOID:3070 high grade glioma ISO RGD:735900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12128990 NRXN2 neurexin 2 gene DOID:630 genetic disease ISO RGD:735900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12129048 CNOT9 CCR4-NOT transcription complex subunit 9 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1322982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12129048 CNOT9 CCR4-NOT transcription complex subunit 9 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1322982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12129048 CNOT9 CCR4-NOT transcription complex subunit 9 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1322982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12129048 CNOT9 CCR4-NOT transcription complex subunit 9 gene DOID:2526 prostate adenocarcinoma ISO RGD:1322982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:26619011 12129048 CNOT9 CCR4-NOT transcription complex subunit 9 gene DOID:2671 transitional cell carcinoma ISO RGD:1322982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011 12129048 CNOT9 CCR4-NOT transcription complex subunit 9 gene DOID:3717 gastric adenocarcinoma ISO RGD:1322982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:26619011 12129048 CNOT9 CCR4-NOT transcription complex subunit 9 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1322982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12129048 CNOT9 CCR4-NOT transcription complex subunit 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1322982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:26619011 12129048 CNOT9 CCR4-NOT transcription complex subunit 9 gene DOID:8923 skin melanoma ISO RGD:1322982 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:25741868|PMID:26619011 12129048 CNOT9 CCR4-NOT transcription complex subunit 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322982 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: CNOT9-associated neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26619011 12129068 OR13D3 olfactory receptor family 13 subfamily D member 3 gene DOID:630 genetic disease ISO RGD:1350154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129071 ELMO1 engulfment and cell motility 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1317811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 12129071 ELMO1 engulfment and cell motility 1 gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1317811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:28492532 12129071 ELMO1 engulfment and cell motility 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12129071 ELMO1 engulfment and cell motility 1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1317811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 12129071 ELMO1 engulfment and cell motility 1 gene DOID:630 genetic disease ISO RGD:1317811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129071 ELMO1 engulfment and cell motility 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1317811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17942768 12129103 MTERF1 mitochondrial transcription termination factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12129103 MTERF1 mitochondrial transcription termination factor 1 gene DOID:630 genetic disease ISO RGD:736231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129136 PTGES3L prostaglandin E synthase 3 like gene DOID:630 genetic disease ISO RGD:6483690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129154 SOX9 SRY-box transcription factor 9 gene DOID:0050463 campomelic dysplasia ISO RGD:1322513 D RGD:7240710 20180130 OMIM 12129154 SOX9 SRY-box transcription factor 9 gene DOID:0050463 campomelic dysplasia ISO RGD:1322513 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Acampomelic campomelic dysplasia | ClinVar Annotator: match by term: Acampomelic campomelic dysplasia with autosomal sex reversal | ClinVar Annotator: match by term: Campomelic Dysplasia | ClinVar Annotator: match by term: Camptomelic dysplasia PMID:10951468|PMID:11323423|PMID:11371614|PMID:12783851|PMID:12810722|PMID:15300742|PMID:15806394|PMID:16199547|PMID:17576681|PMID:1809232|PMID:19033726|PMID:19449405|PMID:19921652|PMID:20301724|PMID:20513132|PMID:21218044|PMID:21373255|PMID:21412441|PMID:21614988|PMID:23564514|PMID:24038782|PMID:24451061|PMID:25741868|PMID:25983619|PMID:26078652|PMID:26633542|PMID:26740947|PMID:27899157|PMID:28166811|PMID:28492532|PMID:29542186|PMID:31389106|PMID:32381727|PMID:32595695|PMID:34092239|PMID:7485151|PMID:7990924|PMID:8001137|PMID:8894698|PMID:9002675|PMID:9536098 12129154 SOX9 SRY-box transcription factor 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1322513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20868653 12129154 SOX9 SRY-box transcription factor 9 gene DOID:0080082 nonsyndromic congenital nail disorder 4 ISO RGD:1322513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19639023 12129154 SOX9 SRY-box transcription factor 9 gene DOID:0111763 46,XX sex reversal 2 ISO RGD:1322513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XX sex reversal 2 PMID:21208124|PMID:22051515 12129154 SOX9 SRY-box transcription factor 9 gene DOID:0111775 46,XY sex reversal 10 ISO RGD:1322513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 10 PMID:22051515|PMID:25604083|PMID:567843|PMID:6620326 12129154 SOX9 SRY-box transcription factor 9 gene DOID:10283 prostate cancer ISO RGD:1322513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12129154 SOX9 SRY-box transcription factor 9 gene DOID:1324 lung cancer ISO RGD:1322513 D RGD:9068941 20220407 RGD mRNA:increased expression:lung PMID:31221478|REF_RGD_ID:151665930 12129154 SOX9 SRY-box transcription factor 9 gene DOID:1324 lung cancer disease_progression ISO RGD:1605727 D RGD:9068941 20220407 RGD PMID:31221478|REF_RGD_ID:151665930 12129154 SOX9 SRY-box transcription factor 9 gene DOID:305 carcinoma ISO RGD:1322513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12129154 SOX9 SRY-box transcription factor 9 gene DOID:3905 lung carcinoma exacerbates ISO RGD:1605727 D RGD:9068941 20220407 RGD PMID:31221478|REF_RGD_ID:151665930 12129154 SOX9 SRY-box transcription factor 9 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1322513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19234473 12129154 SOX9 SRY-box transcription factor 9 gene DOID:630 genetic disease ISO RGD:1322513 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10446171|PMID:10951468|PMID:12161603|PMID:12783851|PMID:19033726|PMID:20513132|PMID:23551858|PMID:24038782|PMID:25741868|PMID:28492532|PMID:9066880 12129154 SOX9 SRY-box transcription factor 9 gene DOID:65 connective tissue disease ISO RGD:1322513 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:15806394|PMID:1809232|PMID:20301724|PMID:25741868|PMID:28492532|PMID:8001137|PMID:9002675 12129154 SOX9 SRY-box transcription factor 9 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1322513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12129154 SOX9 SRY-box transcription factor 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1322513 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32682831 12129154 SOX9 SRY-box transcription factor 9 gene DOID:9002589 Bone Fractures ISO RGD:620474 D RGD:9068941 20200609 RGD PMID:21252473|REF_RGD_ID:11252151 12129154 SOX9 SRY-box transcription factor 9 gene DOID:9003184 Campomelic Dysplasia with Autosomal Sex Reversal ISO RGD:1322513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Campomelic dysplasia with autosomal sex reversal PMID:11076045|PMID:11323423|PMID:12810722|PMID:15806394|PMID:1809232|PMID:20301724|PMID:21412441|PMID:25741868|PMID:26078652|PMID:26633542|PMID:28492532|PMID:31389106|PMID:34092239|PMID:7485151|PMID:7990924|PMID:8001137|PMID:8894698|PMID:9002675 12129154 SOX9 SRY-box transcription factor 9 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1322513 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32682831 12129154 SOX9 SRY-box transcription factor 9 gene DOID:9004795 Congenital Hand Deformities ISO RGD:1322513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19639023 12129154 SOX9 SRY-box transcription factor 9 gene DOID:9005172 Lung Neoplasms ISO RGD:1322513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12129154 SOX9 SRY-box transcription factor 9 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1322513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12129154 SOX9 SRY-box transcription factor 9 gene DOID:9006314 Bent Bone Dysplasia Syndrome ISO RGD:1322513 D RGD:8554872 20221018 ClinVar ClinVar Annotator: match by term: Bent bone dysplasia PMID:25741868 12129154 SOX9 SRY-box transcription factor 9 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1322513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11807034 12129154 SOX9 SRY-box transcription factor 9 gene DOID:9256 colorectal cancer ISO RGD:1322513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 12129159 RPLP2 ribosomal protein lateral stalk subunit P2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12129159 RPLP2 ribosomal protein lateral stalk subunit P2 gene DOID:0050729 neutral lipid storage disease ISO RGD:735289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 12129159 RPLP2 ribosomal protein lateral stalk subunit P2 gene DOID:0080773 delta beta-thalassemia ISO RGD:735289 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12129159 RPLP2 ribosomal protein lateral stalk subunit P2 gene DOID:0111969 immunodeficiency 39 ISO RGD:735289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12129159 RPLP2 ribosomal protein lateral stalk subunit P2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12129159 RPLP2 ribosomal protein lateral stalk subunit P2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12129159 RPLP2 ribosomal protein lateral stalk subunit P2 gene DOID:630 genetic disease ISO RGD:735289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129159 RPLP2 ribosomal protein lateral stalk subunit P2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:735289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12129159 RPLP2 ribosomal protein lateral stalk subunit P2 gene DOID:9008939 Breast Neoplasms ISO RGD:735289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12129168 CCDC83 coiled-coil domain containing 83 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1606128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 12129168 CCDC83 coiled-coil domain containing 83 gene DOID:1059 intellectual disability ISO RGD:1606128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12129168 CCDC83 coiled-coil domain containing 83 gene DOID:630 genetic disease ISO RGD:1606128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129187 CCNA1 cyclin A1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1321661 D RGD:9068941 20200609 RGD human gene, mouse model PMID:18612129|REF_RGD_ID:2316302 12129187 CCNA1 cyclin A1 gene DOID:11166 papillomavirus infectious disease ISO RGD:1321661 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23358896 12129187 CCNA1 cyclin A1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1321661 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23358896|PMID:29464035 12129187 CCNA1 cyclin A1 gene DOID:630 genetic disease ISO RGD:1321661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129187 CCNA1 cyclin A1 gene DOID:684 hepatocellular carcinoma ISO RGD:1321661 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12029619 12129187 CCNA1 cyclin A1 gene DOID:9004207 Testicular Neoplasms ISO RGD:1321661 D RGD:9068941 20200609 RGD mRNA:decreased expression:testis (human) PMID:15800920|REF_RGD_ID:2289152 12129187 CCNA1 cyclin A1 gene DOID:9119 acute myeloid leukemia ISO RGD:1321661 D RGD:9068941 20200609 RGD protein:increased expression:leukocyte (human) PMID:10068680|REF_RGD_ID:2316304 12129208 ZAR1L zygote arrest 1 like gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:2311474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28492532|PMID:29766361|PMID:31843900 12129208 ZAR1L zygote arrest 1 like gene DOID:630 genetic disease ISO RGD:2311474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129218 ACTC1 actin alpha cardiac muscle 1 gene DOID:0050700 cardiomyopathy ISO RGD:735789 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10494087|PMID:10966831|PMID:11052860|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17576681|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:22555271|PMID:22590617|PMID:23054336|PMID:23283745|PMID:24033266|PMID:24736382|PMID:25163546|PMID:25741868|PMID:27532257|PMID:28138913|PMID:28408708|PMID:28416588|PMID:28492532|PMID:28798025|PMID:30371277|PMID:30471092|PMID:30847666|PMID:31246743|PMID:31430208|PMID:31434612|PMID:32815737|PMID:32880476|PMID:34011823|PMID:34088380|PMID:34935411|PMID:9536098|PMID:9563954 12129218 ACTC1 actin alpha cardiac muscle 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:735789 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12129218 ACTC1 actin alpha cardiac muscle 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:735789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24736382|PMID:25524337|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30371277 12129218 ACTC1 actin alpha cardiac muscle 1 gene DOID:0110110 atrial heart septal defect 5 ISO RGD:735789 D RGD:7240710 20180130 OMIM 12129218 ACTC1 actin alpha cardiac muscle 1 gene DOID:0110110 atrial heart septal defect 5 ISO RGD:735789 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Atrial septal defect 5 PMID:10494087|PMID:10966831|PMID:11052860|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:21839045|PMID:22464770|PMID:22555271|PMID:22563033|PMID:23054336|PMID:24033266|PMID:24461919|PMID:24736382|PMID:25163546|PMID:25239116|PMID:25741868|PMID:27532257|PMID:27561770|PMID:28138913|PMID:28416588|PMID:28492532|PMID:28790153|PMID:28798025|PMID:29764897|PMID:30371277|PMID:30471092|PMID:30847666|PMID:31246743|PMID:31430208|PMID:31434612|PMID:32880476|PMID:33500567|PMID:34088380|PMID:34935411 12129218 ACTC1 actin alpha cardiac muscle 1 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:735789 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24736382|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30371277 12129218 ACTC1 actin alpha cardiac muscle 1 gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:735789 D RGD:7240710 20180130 OMIM 12129218 ACTC1 actin alpha cardiac muscle 1 gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:735789 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 PMID:10330430|PMID:10494087|PMID:10966831|PMID:11052860|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16199547|PMID:16267253|PMID:16611632|PMID:17576681|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18403758|PMID:18458017|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19562689|PMID:19799913|PMID:20497191|PMID:20600154|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:21839045|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22590617|PMID:23054336|PMID:23283745|PMID:24033266|PMID:24461919|PMID:24503780|PMID:24691700|PMID:24736382|PMID:24793351|PMID:25132132|PMID:25163546|PMID:25239116|PMID:25524337|PMID:25741868|PMID:26914223|PMID:27125413|PMID:27532257|PMID:27561770|PMID:27600940|PMID:28138913|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28973083|PMID:29121657|PMID:29440008|PMID:29719515|PMID:29764897|PMID:30297972|PMID:30371277|PMID:30471092|PMID:30600190|PMID:30685992|PMID:30762279|PMID:30847666|PMID:31246743|PMID:31430208|PMID:31434612|PMID:31481237|PMID:32815737|PMID:32880476|PMID:33049292|PMID:33500567|PMID:34011823|PMID:34088380|PMID:34935411|PMID:9536098|PMID:9563954 12129218 ACTC1 actin alpha cardiac muscle 1 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:735789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868|PMID:28492532 12129218 ACTC1 actin alpha cardiac muscle 1 gene DOID:0110456 dilated cardiomyopathy 1R ISO RGD:735789 D RGD:7240710 20180228 OMIM 12129218 ACTC1 actin alpha cardiac muscle 1 gene DOID:0110456 dilated cardiomyopathy 1R ISO RGD:735789 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1R PMID:10494087|PMID:10966831|PMID:11052860|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20600154|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:21839045|PMID:22555271|PMID:22563033|PMID:22590617|PMID:23054336|PMID:23283745|PMID:24033266|PMID:24461919|PMID:24736382|PMID:25163546|PMID:25239116|PMID:25741868|PMID:27532257|PMID:27561770|PMID:28138913|PMID:28416588|PMID:28492532|PMID:28790153|PMID:28798025|PMID:28973083|PMID:29719515|PMID:29764897|PMID:30371277|PMID:30471092|PMID:30847666|PMID:31246743|PMID:31430208|PMID:31434612|PMID:32880476|PMID:33500567|PMID:34011823|PMID:34088380|PMID:34935411|PMID:9563954 12129218 ACTC1 actin alpha cardiac muscle 1 gene DOID:10763 hypertension ISO RGD:2026 D RGD:9068941 20200609 RGD PMID:16343576|REF_RGD_ID:1598724 12129218 ACTC1 actin alpha cardiac muscle 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17576681|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:21839045|PMID:22563033|PMID:24033266|PMID:24736382|PMID:25239116|PMID:25741868|PMID:27532257|PMID:28408708|PMID:28492532|PMID:28790153|PMID:30371277|PMID:9536098 12129218 ACTC1 actin alpha cardiac muscle 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:735789 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28492532 12129218 ACTC1 actin alpha cardiac muscle 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:735789 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30371277 12129218 ACTC1 actin alpha cardiac muscle 1 gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:735789 D RGD:9068941 20200609 RGD DNA:point mutations: :p.Arg312His, p.Glu361Gly (human) PMID:9563954|REF_RGD_ID:1559158 12129218 ACTC1 actin alpha cardiac muscle 1 gene DOID:1882 atrial heart septal defect ISO RGD:735789 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:28492532 12129218 ACTC1 actin alpha cardiac muscle 1 gene DOID:2717 Bloom syndrome ISO RGD:735789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12129218 ACTC1 actin alpha cardiac muscle 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:735789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 12129218 ACTC1 actin alpha cardiac muscle 1 gene DOID:397 restrictive cardiomyopathy ISO RGD:735789 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy PMID:28492532 12129218 ACTC1 actin alpha cardiac muscle 1 gene DOID:630 genetic disease ISO RGD:735789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:28973083 12129218 ACTC1 actin alpha cardiac muscle 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735789 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 12129218 ACTC1 actin alpha cardiac muscle 1 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:735789 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:28492532 12129218 ACTC1 actin alpha cardiac muscle 1 gene DOID:9005930 Endotoxemia ISO RGD:2026 D RGD:9068941 20200609 RGD PMID:11680626|REF_RGD_ID:1598729 12129218 ACTC1 actin alpha cardiac muscle 1 gene DOID:9256 colorectal cancer ISO RGD:735789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12129218 ACTC1 actin alpha cardiac muscle 1 gene DOID:9835 refractive error ISO RGD:735789 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20835239 12129228 ABI3BP ABI family member 3 binding protein gene DOID:289 endometriosis ISO RGD:1349467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12129228 ABI3BP ABI family member 3 binding protein gene DOID:630 genetic disease ISO RGD:1349467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129340 LOC479874 testisin gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1344108 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12129340 LOC479874 testisin gene DOID:1826 epilepsy ISO RGD:1344108 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12129340 LOC479874 testisin gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344108 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12129340 LOC479874 testisin gene DOID:630 genetic disease ISO RGD:1344108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129349 LGSN lengsin, lens protein with glutamine synthetase domain gene DOID:630 genetic disease ISO RGD:1344000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129364 INTS13 integrator complex subunit 13 gene DOID:630 genetic disease ISO RGD:1342865 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129364 INTS13 integrator complex subunit 13 gene DOID:9001341 Chloracne ISO RGD:1342865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12129392 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:0060879 primary hypomagnesemia ISO RGD:1317777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomagnesemia 12129392 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:0060884 renal hypomagnesemia 6 ISO RGD:1317777 D RGD:7240710 20180130 OMIM 12129392 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:0060884 renal hypomagnesemia 6 ISO RGD:1317777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypomagnesemia 6 PMID:21397062|PMID:25741868|PMID:28492532 12129392 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:0060885 renal hypomagnesemia 2 ISO RGD:1317777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant 12129392 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:0110797 hereditary spastic paraplegia 45 ISO RGD:1317777 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 PMID:24482476|PMID:25741868|PMID:28492532 12129392 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 12129392 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:557 kidney disease ISO RGD:1317777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23027747 12129392 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:630 genetic disease ISO RGD:1317777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12129392 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1317777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23027747 12129392 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12129392 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:9005063 HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1 ISO RGD:1317777 D RGD:7240710 20180130 OMIM 12129392 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:9005063 HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1 ISO RGD:1317777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypomagnesemia, seizures, and intellectual disability 1 PMID:24699222|PMID:25741868|PMID:28492532 12129392 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:9008449 Tetany ISO RGD:1317777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23027747 12129412 ZFAND1 zinc finger AN1-type containing 1 gene DOID:630 genetic disease ISO RGD:1605942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129426 EXPH5 exophilin 5 gene DOID:1059 intellectual disability ISO RGD:1604627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12129426 EXPH5 exophilin 5 gene DOID:12704 ataxia telangiectasia ISO RGD:1604627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12129426 EXPH5 exophilin 5 gene DOID:14723 beta-ketothiolase deficiency ISO RGD:1604627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:28492532 12129426 EXPH5 exophilin 5 gene DOID:2730 epidermolysis bullosa ISO RGD:1604627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12129426 EXPH5 exophilin 5 gene DOID:630 genetic disease ISO RGD:1604627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12129426 EXPH5 exophilin 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12129426 EXPH5 exophilin 5 gene DOID:9008927 Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive ISO RGD:1604627 D RGD:7240710 20180130 OMIM 12129426 EXPH5 exophilin 5 gene DOID:9008927 Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive ISO RGD:1604627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive PMID:23176819|PMID:24005056|PMID:24443915|PMID:25741868|PMID:26211931|PMID:27384765|PMID:27730671|PMID:28492532|PMID:28830826|PMID:30016581|PMID:32176379 12129462 MID1 midline 1 gene DOID:0060408 chromosome 19q13.11 deletion syndrome ISO RGD:732275 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chromosome 19q13.11 deletion syndrome, distal PMID:25741868 12129462 MID1 midline 1 gene DOID:0080697 Opitz GBBB syndrome ISO RGD:732275 D RGD:7240710 20180130 OMIM 12129462 MID1 midline 1 gene DOID:0080697 Opitz GBBB syndrome ISO RGD:732275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I PMID:11030761|PMID:12545276|PMID:15121778|PMID:15558842|PMID:17221865|PMID:18360914|PMID:18949047|PMID:20671548|PMID:21326312|PMID:23757202|PMID:25207814|PMID:25304119|PMID:25741868|PMID:25874572|PMID:27749392|PMID:28492532|PMID:29456483|PMID:32926417|PMID:9354791 12129462 MID1 midline 1 gene DOID:0080698 Teebi hypertelorism syndrome 1 ISO RGD:732275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Opitz-Frias syndrome PMID:11030761|PMID:12545276|PMID:15121778|PMID:15558842|PMID:17221865|PMID:18360914|PMID:18949047|PMID:20671548|PMID:21326312|PMID:23757202|PMID:25207814|PMID:25304119|PMID:25741868|PMID:25874572|PMID:27749392|PMID:28492532|PMID:29456483|PMID:32926417|PMID:9354791 12129462 MID1 midline 1 gene DOID:10629 microphthalmia ISO RGD:732276 D RGD:9068941 20220825 MouseDO OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 12129462 MID1 midline 1 gene DOID:12849 autistic disorder ISO RGD:732275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12129462 MID1 midline 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:732275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker malformation PMID:15121778|PMID:15558842|PMID:25741868 12129462 MID1 midline 1 gene DOID:630 genetic disease ISO RGD:732275 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18360914|PMID:18414213|PMID:25741868|PMID:28492532 12129462 MID1 midline 1 gene DOID:9003133 Hypertelorism ISO RGD:732275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 12129462 MID1 midline 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12129491 CEBPD CCAAT enhancer binding protein delta gene DOID:5394 prolactinoma ISO RGD:736554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21980073 12129491 CEBPD CCAAT enhancer binding protein delta gene DOID:630 genetic disease ISO RGD:736554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129491 CEBPD CCAAT enhancer binding protein delta gene DOID:684 hepatocellular carcinoma ISO RGD:736554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563831 12129491 CEBPD CCAAT enhancer binding protein delta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12129491 CEBPD CCAAT enhancer binding protein delta gene DOID:9004484 Sepsis ISO RGD:2328 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:11792653|REF_RGD_ID:625506 12129491 CEBPD CCAAT enhancer binding protein delta gene DOID:9007102 Myocardial Ischemia ISO RGD:736554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12129491 CEBPD CCAAT enhancer binding protein delta gene DOID:9119 acute myeloid leukemia ISO RGD:736554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17234736 12129496 RAMP1 receptor activity modifying protein 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:735949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12129496 RAMP1 receptor activity modifying protein 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:735949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12129496 RAMP1 receptor activity modifying protein 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:735949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12129496 RAMP1 receptor activity modifying protein 1 gene DOID:1059 intellectual disability ISO RGD:735949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12129496 RAMP1 receptor activity modifying protein 1 gene DOID:630 genetic disease ISO RGD:735949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129496 RAMP1 receptor activity modifying protein 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:735949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12129496 RAMP1 receptor activity modifying protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12129514 SP140 SP140 nuclear body protein gene DOID:0060476 Perlman syndrome ISO RGD:1314926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12129514 SP140 SP140 nuclear body protein gene DOID:0110991 Joubert syndrome 22 ISO RGD:1314926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12129514 SP140 SP140 nuclear body protein gene DOID:0112254 hepatic venoocclusive disease with immunodeficiency ISO RGD:1314926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatic veno-occlusive disease-immunodeficiency syndrome PMID:16648851|PMID:16803959|PMID:17510920|PMID:17576681|PMID:19780822|PMID:20301448|PMID:21536091|PMID:22621957|PMID:23448538|PMID:24033266|PMID:25741868|PMID:27577878|PMID:28492532|PMID:32888943|PMID:9536098 12129514 SP140 SP140 nuclear body protein gene DOID:399 tuberculosis ISO RGD:1314926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:16803959|PMID:16816019|PMID:17149599 12129514 SP140 SP140 nuclear body protein gene DOID:630 genetic disease ISO RGD:1314926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12129514 SP140 SP140 nuclear body protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12129514 SP140 SP140 nuclear body protein gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1314926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18758461 12129567 ANO4 anoctamin 4 gene DOID:289 endometriosis ISO RGD:1321043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12129567 ANO4 anoctamin 4 gene DOID:303 substance-related disorder ISO RGD:1321043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12129567 ANO4 anoctamin 4 gene DOID:630 genetic disease ISO RGD:1321043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129619 TNFSF13 TNF superfamily member 13 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1314162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12129619 TNFSF13 TNF superfamily member 13 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1314162 D RGD:9068941 20200609 RGD PMID:15488762|REF_RGD_ID:1549466 12129619 TNFSF13 TNF superfamily member 13 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1314162 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12129619 TNFSF13 TNF superfamily member 13 gene DOID:12177 common variable immunodeficiency ISO RGD:1314162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12129619 TNFSF13 TNF superfamily member 13 gene DOID:2729 dyskeratosis congenita ISO RGD:1314162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12129619 TNFSF13 TNF superfamily member 13 gene DOID:2986 IgA glomerulonephritis ISO RGD:1314162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22197929 12129619 TNFSF13 TNF superfamily member 13 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1314162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12129619 TNFSF13 TNF superfamily member 13 gene DOID:630 genetic disease ISO RGD:1314162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129619 TNFSF13 TNF superfamily member 13 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1314162 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15488762|REF_RGD_ID:1549466 12129619 TNFSF13 TNF superfamily member 13 gene DOID:9003281 Spontaneous Abortions ISO RGD:1314162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12129619 TNFSF13 TNF superfamily member 13 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1314162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18423122 12129630 TMEM91 transmembrane protein 91 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12129630 TMEM91 transmembrane protein 91 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1602234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12129630 TMEM91 transmembrane protein 91 gene DOID:2340 craniosynostosis ISO RGD:1602234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12129630 TMEM91 transmembrane protein 91 gene DOID:630 genetic disease ISO RGD:1602234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129630 TMEM91 transmembrane protein 91 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1602234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12129630 TMEM91 transmembrane protein 91 gene DOID:9269 maple syrup urine disease ISO RGD:1602234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12129642 OR51B9 olfactory receptor family 51 subfamily B member 9 gene DOID:630 genetic disease ISO RGD:1350324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129656 C27H12orf60 chromosome 27 C12orf60 homolog gene DOID:0060296 congenital secretory chloride diarrhea 1 ISO RGD:1606152 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE PMID:25741868|PMID:28492532 12129656 C27H12orf60 chromosome 27 C12orf60 homolog gene DOID:0060780 congenital diarrhea 6 ISO RGD:1606152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital diarrhea 6 PMID:22436048|PMID:24033266|PMID:25741868|PMID:28492532 12129656 C27H12orf60 chromosome 27 C12orf60 homolog gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1606152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12129656 C27H12orf60 chromosome 27 C12orf60 homolog gene DOID:0080216 duodenal atresia ISO RGD:1606152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duodenal atresia 12129656 C27H12orf60 chromosome 27 C12orf60 homolog gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1606152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12129656 C27H12orf60 chromosome 27 C12orf60 homolog gene DOID:0110892 inflammatory bowel disease 1 ISO RGD:1606152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:25741868 12129656 C27H12orf60 chromosome 27 C12orf60 homolog gene DOID:630 genetic disease ISO RGD:1606152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12129656 C27H12orf60 chromosome 27 C12orf60 homolog gene DOID:8778 Crohn's disease ISO RGD:1606152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:25741868 12129656 C27H12orf60 chromosome 27 C12orf60 homolog gene DOID:9006465 Meconium Ileus ISO RGD:1606152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | ClinVar Annotator: match by term: Meconium ileus PMID:22521417|PMID:24033266|PMID:25370039|PMID:25741868|PMID:28492532|PMID:33223529|PMID:4006357 12129656 C27H12orf60 chromosome 27 C12orf60 homolog gene DOID:9008737 VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS ISO RGD:1606152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vertebral, cardiac, tracheoesophageal, renal, and limb defects | ClinVar Annotator: match by term: WBP11 spliceosomopathy PMID:25741868|PMID:33276377 12129676 SLC26A7 solute carrier family 26 member 7 gene DOID:0050328 congenital hypothyroidism ISO RGD:1321983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:31372509 12129676 SLC26A7 solute carrier family 26 member 7 gene DOID:5419 schizophrenia ISO RGD:1321983 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12129676 SLC26A7 solute carrier family 26 member 7 gene DOID:630 genetic disease ISO RGD:1321983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129699 SEMA6D semaphorin 6D gene DOID:14323 Marfan syndrome ISO RGD:1605040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868 12129699 SEMA6D semaphorin 6D gene DOID:2717 Bloom syndrome ISO RGD:1605040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12129699 SEMA6D semaphorin 6D gene DOID:303 substance-related disorder ISO RGD:1605040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12129699 SEMA6D semaphorin 6D gene DOID:630 genetic disease ISO RGD:1605040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129699 SEMA6D semaphorin 6D gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12129699 SEMA6D semaphorin 6D gene DOID:9256 colorectal cancer ISO RGD:1605040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12129736 CHIC2 cysteine rich hydrophobic domain 2 gene DOID:630 genetic disease ISO RGD:1319536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129736 CHIC2 cysteine rich hydrophobic domain 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1319536 D RGD:7240710 20180130 OMIM 12129746 MIR29C-2 microRNA mir-29c-2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1351109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 12129746 MIR29C-2 microRNA mir-29c-2 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1351109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 12129746 MIR29C-2 microRNA mir-29c-2 gene DOID:11054 urinary bladder cancer ISO RGD:1351109 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 12129746 MIR29C-2 microRNA mir-29c-2 gene DOID:12849 autistic disorder ISO RGD:1351109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12129746 MIR29C-2 microRNA mir-29c-2 gene DOID:1540 parathyroid carcinoma ISO RGD:1351109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12129746 MIR29C-2 microRNA mir-29c-2 gene DOID:2671 transitional cell carcinoma ISO RGD:1351109 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 12129746 MIR29C-2 microRNA mir-29c-2 gene DOID:3770 pulmonary fibrosis ISO RGD:1351109 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 12129746 MIR29C-2 microRNA mir-29c-2 gene DOID:4989 pancreatitis ISO RGD:1351109 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12129746 MIR29C-2 microRNA mir-29c-2 gene DOID:5082 liver cirrhosis ISO RGD:1351109 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12129746 MIR29C-2 microRNA mir-29c-2 gene DOID:6000 congestive heart failure ISO RGD:1351109 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12129746 MIR29C-2 microRNA mir-29c-2 gene DOID:9000918 Disease Progression ISO RGD:1351109 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 12129746 MIR29C-2 microRNA mir-29c-2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1351109 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12129746 MIR29C-2 microRNA mir-29c-2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351109 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106|PMID:30515189 12129746 MIR29C-2 microRNA mir-29c-2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12129842 TMA16 translation machinery associated 16 homolog gene DOID:630 genetic disease ISO RGD:1605071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129853 SH2D6 SH2 domain containing 6 gene DOID:630 genetic disease ISO RGD:1606407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129873 CNNM1 cyclin and CBS domain divalent metal cation transport mediator 1 gene DOID:1909 melanoma ISO RGD:1318672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 12129873 CNNM1 cyclin and CBS domain divalent metal cation transport mediator 1 gene DOID:3007 breast ductal carcinoma ISO RGD:1318672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12129873 CNNM1 cyclin and CBS domain divalent metal cation transport mediator 1 gene DOID:630 genetic disease ISO RGD:1318672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129895 PLPPR4 phospholipid phosphatase related 4 gene DOID:630 genetic disease ISO RGD:1605099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129910 TAF1C TATA-box binding protein associated factor, RNA polymerase I subunit C gene DOID:0110618 primary ciliary dyskinesia 13 ISO RGD:1313816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 13 PMID:25741868 12129910 TAF1C TATA-box binding protein associated factor, RNA polymerase I subunit C gene DOID:12849 autistic disorder ISO RGD:1313816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20663923 12129910 TAF1C TATA-box binding protein associated factor, RNA polymerase I subunit C gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1313816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12129910 TAF1C TATA-box binding protein associated factor, RNA polymerase I subunit C gene DOID:630 genetic disease ISO RGD:1313816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129910 TAF1C TATA-box binding protein associated factor, RNA polymerase I subunit C gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:19944400|PMID:19944405|PMID:24033266|PMID:28492532 12129952 CD52 CD52 molecule gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1348187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 12129952 CD52 CD52 molecule gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1348187 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12129952 CD52 CD52 molecule gene DOID:630 genetic disease ISO RGD:1348187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129958 ATP4B ATPase H+/K+ transporting subunit beta gene DOID:0040090 autoimmune gastritis ISO RGD:10213 D RGD:9068941 20200609 RGD PMID:8393475|REF_RGD_ID:14696740 12129958 ATP4B ATPase H+/K+ transporting subunit beta gene DOID:0040090 autoimmune gastritis ISO RGD:737185 D RGD:9068941 20200609 RGD PMID:7517707|REF_RGD_ID:14696746 12129958 ATP4B ATPase H+/K+ transporting subunit beta gene DOID:10534 stomach cancer ISO RGD:737185 D RGD:9068941 20200609 RGD DNA:hypermethylation:exon, stomach, plasma PMID:23317218|REF_RGD_ID:14696738 12129958 ATP4B ATPase H+/K+ transporting subunit beta gene DOID:11476 osteoporosis treatment ISO RGD:10213 D RGD:9068941 20200609 RGD PMID:26869358|REF_RGD_ID:14696735 12129958 ATP4B ATPase H+/K+ transporting subunit beta gene DOID:2222 factor X deficiency ISO RGD:737185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12129958 ATP4B ATPase H+/K+ transporting subunit beta gene DOID:630 genetic disease ISO RGD:737185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129958 ATP4B ATPase H+/K+ transporting subunit beta gene DOID:8757 gastric mucosal hypertrophy ISO RGD:10213 D RGD:9068941 20200609 RGD PMID:20476858|REF_RGD_ID:14696744 12129958 ATP4B ATPase H+/K+ transporting subunit beta gene DOID:8929 atrophic gastritis ISO RGD:737185 D RGD:9068941 20200609 RGD PMID:30539573|REF_RGD_ID:14696739 12129958 ATP4B ATPase H+/K+ transporting subunit beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2178 D RGD:9068941 20200609 RGD PMID:20237950|REF_RGD_ID:14696743 12129958 ATP4B ATPase H+/K+ transporting subunit beta gene DOID:9970 obesity treatment ISO RGD:2178 D RGD:9068941 20200609 RGD PMID:25822172|REF_RGD_ID:14696745 12129969 POLDIP3 DNA polymerase delta interacting protein 3 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1322337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 12129969 POLDIP3 DNA polymerase delta interacting protein 3 gene DOID:1059 intellectual disability ISO RGD:1322337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12129969 POLDIP3 DNA polymerase delta interacting protein 3 gene DOID:630 genetic disease ISO RGD:1322337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12129969 POLDIP3 DNA polymerase delta interacting protein 3 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1322337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 12129985 SRPK1 SRSF protein kinase 1 gene DOID:0050553 JMP syndrome ISO RGD:1317950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12129985 SRPK1 SRSF protein kinase 1 gene DOID:630 genetic disease ISO RGD:1317950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130004 MRPS10 mitochondrial ribosomal protein S10 gene DOID:0050444 infantile Refsum disease ISO RGD:1323017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12130004 MRPS10 mitochondrial ribosomal protein S10 gene DOID:630 genetic disease ISO RGD:1323017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130004 MRPS10 mitochondrial ribosomal protein S10 gene DOID:905 Zellweger syndrome ISO RGD:1323017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12130018 ENPP6 ectonucleotide pyrophosphatase/phosphodiesterase 6 gene DOID:630 genetic disease ISO RGD:1323210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130030 ASAP2 ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 gene DOID:630 genetic disease ISO RGD:1313189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130081 ANXA9 annexin A9 gene DOID:0111940 immunodeficiency 42 ISO RGD:1352405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12130081 ANXA9 annexin A9 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1352405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12130081 ANXA9 annexin A9 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1352405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12130081 ANXA9 annexin A9 gene DOID:1540 parathyroid carcinoma ISO RGD:1352405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12130081 ANXA9 annexin A9 gene DOID:5812 MHC class II deficiency ISO RGD:1352405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12130081 ANXA9 annexin A9 gene DOID:630 genetic disease ISO RGD:1352405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130081 ANXA9 annexin A9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12130116 WDR7 WD repeat domain 7 gene DOID:630 genetic disease ISO RGD:736419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130154 PRMT3 protein arginine methyltransferase 3 gene DOID:1059 intellectual disability ISO RGD:1604394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12130154 PRMT3 protein arginine methyltransferase 3 gene DOID:2841 asthma ISO RGD:620413 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20423833|REF_RGD_ID:9491823 12130154 PRMT3 protein arginine methyltransferase 3 gene DOID:630 genetic disease ISO RGD:1604394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130174 MLF1 myeloid leukemia factor 1 gene DOID:0080600 COVID-19 ISO RGD:1315708 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12130174 MLF1 myeloid leukemia factor 1 gene DOID:630 genetic disease ISO RGD:1315708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130174 MLF1 myeloid leukemia factor 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1315708 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12130196 UFM1 ubiquitin fold modifier 1 gene DOID:0080296 hypomyelinating leukodystrophy 14 ISO RGD:1344837 D RGD:7240710 20190315 OMIM 12130196 UFM1 ubiquitin fold modifier 1 gene DOID:0080296 hypomyelinating leukodystrophy 14 ISO RGD:1344837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 14 PMID:25741868|PMID:28492532|PMID:28931644|PMID:29868776|PMID:32860008 12130196 UFM1 ubiquitin fold modifier 1 gene DOID:630 genetic disease ISO RGD:1344837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130211 CEP44 centrosomal protein 44 gene DOID:630 genetic disease ISO RGD:1318333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130211 CEP44 centrosomal protein 44 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12130237 PLPP4 phospholipid phosphatase 4 gene DOID:1612 breast cancer ISO RGD:1351368 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:16818692|REF_RGD_ID:2314524 12130237 PLPP4 phospholipid phosphatase 4 gene DOID:630 genetic disease ISO RGD:1351368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130247 USP16 ubiquitin specific peptidase 16 gene DOID:630 genetic disease ISO RGD:1316236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130280 TMEM218 transmembrane protein 218 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1332286 D RGD:9068941 20220825 MouseDO OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615 12130280 TMEM218 transmembrane protein 218 gene DOID:0050777 Joubert syndrome ISO RGD:2293899 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:33791682 12130280 TMEM218 transmembrane protein 218 gene DOID:0050777 Joubert syndrome ISO RGD:2293899 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:33791682 12130280 TMEM218 transmembrane protein 218 gene DOID:0070118 Meckel syndrome 4 ISO RGD:2293899 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 4 PMID:25741868|PMID:33791682 12130280 TMEM218 transmembrane protein 218 gene DOID:0110877 holoprosencephaly 11 ISO RGD:2293899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12130280 TMEM218 transmembrane protein 218 gene DOID:0111723 Jacobsen Syndrome ISO RGD:2293899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12130280 TMEM218 transmembrane protein 218 gene DOID:5419 schizophrenia ISO RGD:2293899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12130280 TMEM218 transmembrane protein 218 gene DOID:630 genetic disease ISO RGD:2293899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:33791682 12130280 TMEM218 transmembrane protein 218 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:2293899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12130280 TMEM218 transmembrane protein 218 gene DOID:9004188 Joubert Syndrome 39 ISO RGD:2293899 D RGD:7240710 20211027 OMIM 12130280 TMEM218 transmembrane protein 218 gene DOID:9004188 Joubert Syndrome 39 ISO RGD:2293899 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Joubert syndrome 39 PMID:25741868|PMID:33791682|PMID:35137054 12130280 TMEM218 transmembrane protein 218 gene DOID:9007661 Dwarfism ISO RGD:2293899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12130291 ACTR10 actin related protein 10 gene DOID:630 genetic disease ISO RGD:1315176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130308 IKZF4 IKAROS family zinc finger 4 gene DOID:0111888 Diamond-Blackfan anemia 10 ISO RGD:1312328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 PMID:20116044|PMID:22045982|PMID:22689679|PMID:23718193|PMID:23812780|PMID:28492532 12130308 IKZF4 IKAROS family zinc finger 4 gene DOID:12306 vitiligo ISO RGD:1312328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 12130308 IKZF4 IKAROS family zinc finger 4 gene DOID:630 genetic disease ISO RGD:1312328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130308 IKZF4 IKAROS family zinc finger 4 gene DOID:640 encephalomyelitis ISO RGD:1312329 D RGD:9068941 20220825 MouseDO 12130308 IKZF4 IKAROS family zinc finger 4 gene DOID:986 alopecia areata ISO RGD:1312328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20596022 12130349 GPR180 G protein-coupled receptor 180 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1604518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 12130349 GPR180 G protein-coupled receptor 180 gene DOID:630 genetic disease ISO RGD:1604518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130349 GPR180 G protein-coupled receptor 180 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1604518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12130349 GPR180 G protein-coupled receptor 180 gene DOID:9006419 Congenital Microcoria ISO RGD:1604518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital miosis PMID:32672565 12130362 RBMS3 RNA binding motif single stranded interacting protein 3 gene DOID:13641 exfoliation syndrome ISO RGD:1343809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28553957 12130362 RBMS3 RNA binding motif single stranded interacting protein 3 gene DOID:630 genetic disease ISO RGD:1343809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130407 WNT6 Wnt family member 6 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1312067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12130407 WNT6 Wnt family member 6 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1312067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex 12130407 WNT6 Wnt family member 6 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1312067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12130407 WNT6 Wnt family member 6 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1312067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12130407 WNT6 Wnt family member 6 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1312067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cholestanol storage disease PMID:10775536|PMID:26937392|PMID:28492532|PMID:9392430 12130407 WNT6 Wnt family member 6 gene DOID:630 genetic disease ISO RGD:1312067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130407 WNT6 Wnt family member 6 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1312068 D RGD:9068941 20200609 RGD Adenomyoepithelioma; mRNA:increased expression:tumor:PLAG-1 transgenic mice PMID:18649356|REF_RGD_ID:2298845 12130407 WNT6 Wnt family member 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12130407 WNT6 Wnt family member 6 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1312068 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:9419423|REF_RGD_ID:2298848 12130407 WNT6 Wnt family member 6 gene DOID:9005233 Experimental Mammary Neoplasms no_association ISO RGD:1312068 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:8065359|REF_RGD_ID:2298863 12130414 CCDC149 coiled-coil domain containing 149 gene DOID:630 genetic disease ISO RGD:1606995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130431 APOA4 apolipoprotein A4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12130431 APOA4 apolipoprotein A4 gene DOID:0060180 colitis ISO RGD:737553 D RGD:9068941 20200609 RGD human protein in mouse model PMID:15254593|REF_RGD_ID:5685667 12130431 APOA4 apolipoprotein A4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12130431 APOA4 apolipoprotein A4 gene DOID:0080690 RASopathy ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12130431 APOA4 apolipoprotein A4 gene DOID:0080958 primary hypoalphalipoproteinemia 2 ISO RGD:737553 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Apolipoprotein A-I deficiency PMID:2506176|PMID:6800349 12130431 APOA4 apolipoprotein A4 gene DOID:0081267 graft-versus-host disease ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:blood serum (human) PMID:19379511|REF_RGD_ID:5685691 12130431 APOA4 apolipoprotein A4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12130431 APOA4 apolipoprotein A4 gene DOID:0111123 nephronophthisis 15 ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 12130431 APOA4 apolipoprotein A4 gene DOID:0111971 immunodeficiency 18 ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12130431 APOA4 apolipoprotein A4 gene DOID:0111972 immunodeficiency 19 ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12130431 APOA4 apolipoprotein A4 gene DOID:0111973 immunodeficiency 17 ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12130431 APOA4 apolipoprotein A4 gene DOID:1059 intellectual disability ISO RGD:737553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12130431 APOA4 apolipoprotein A4 gene DOID:10652 Alzheimer's disease ISO RGD:734420 D RGD:9068941 20200609 RGD PMID:21356380|REF_RGD_ID:5685638 12130431 APOA4 apolipoprotein A4 gene DOID:10652 Alzheimer's disease ISO RGD:737553 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q360H (human) PMID:9272683|REF_RGD_ID:5685681 12130431 APOA4 apolipoprotein A4 gene DOID:10652 Alzheimer's disease ISO RGD:737553 D RGD:9068941 20200609 RGD DNA:snp, haplotype:cds:p.S147N (rs5104) (human) PMID:16013913|REF_RGD_ID:5685661 12130431 APOA4 apolipoprotein A4 gene DOID:10652 Alzheimer's disease no_association ISO RGD:737553 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q360H (human) PMID:10559562|REF_RGD_ID:5685682 12130431 APOA4 apolipoprotein A4 gene DOID:12842 Guillain-Barre syndrome ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:18343991|REF_RGD_ID:5685658 12130431 APOA4 apolipoprotein A4 gene DOID:12858 Huntington's disease ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:21297956|REF_RGD_ID:5147768 12130431 APOA4 apolipoprotein A4 gene DOID:1287 cardiovascular system disease ISO RGD:737553 D RGD:9068941 20200609 RGD protein:decreased expression:blood plasma (human) PMID:21569504|REF_RGD_ID:5685637 12130431 APOA4 apolipoprotein A4 gene DOID:1389 polyneuropathy ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:19589605|REF_RGD_ID:5685648 12130431 APOA4 apolipoprotein A4 gene DOID:1470 major depressive disorder ISO RGD:2132 D RGD:9068941 20200609 RGD protein:increased expression:blood serum (rat) PMID:20580919|REF_RGD_ID:5128563 12130431 APOA4 apolipoprotein A4 gene DOID:1686 glaucoma ISO RGD:737553 D RGD:9068941 20200609 RGD Primary Congenital Glaucoma; protein:increased expression:aqueous humor (human) PMID:21078314|REF_RGD_ID:5685641 12130431 APOA4 apolipoprotein A4 gene DOID:1936 atherosclerosis ISO RGD:737553 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15822908 12130431 APOA4 apolipoprotein A4 gene DOID:2355 anemia ISO RGD:734420 D RGD:9068941 20200609 RGD associated with Inflammation; protein:increased expression:blood plasma (mouse) PMID:22146476|REF_RGD_ID:5685688 12130431 APOA4 apolipoprotein A4 gene DOID:2378 relapsing-remitting multiple sclerosis onset ISO RGD:737553 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid (human) PMID:19383442|REF_RGD_ID:5685649 12130431 APOA4 apolipoprotein A4 gene DOID:5327 retinal detachment ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor (human) PMID:19081814|REF_RGD_ID:5685692 12130431 APOA4 apolipoprotein A4 gene DOID:5419 schizophrenia ISO RGD:737553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25821032 12130431 APOA4 apolipoprotein A4 gene DOID:5419 schizophrenia ISO RGD:737553 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid (human) PMID:12836058|REF_RGD_ID:5685679 12130431 APOA4 apolipoprotein A4 gene DOID:574 peripheral nervous system disease ISO RGD:734420 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (mouse) PMID:2050689|REF_RGD_ID:5685702 12130431 APOA4 apolipoprotein A4 gene DOID:5844 myocardial infarction no_association ISO RGD:737553 D RGD:9068941 20200609 RGD DNA:mutation:intron:IVS2 (human) PMID:10428310|REF_RGD_ID:1578442 12130431 APOA4 apolipoprotein A4 gene DOID:5844 myocardial infarction susceptibility ISO RGD:737553 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.Q360H (human) PMID:7958503|REF_RGD_ID:5685678 12130431 APOA4 apolipoprotein A4 gene DOID:630 genetic disease ISO RGD:737553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12130431 APOA4 apolipoprotein A4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737553 D RGD:9068941 20220908 RGD associated with hepatitis B; PMID:31211449|REF_RGD_ID:153350082 12130431 APOA4 apolipoprotein A4 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:18061280|REF_RGD_ID:5685659 12130431 APOA4 apolipoprotein A4 gene DOID:7148 rheumatoid arthritis ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:blood serum (human) PMID:20367977|REF_RGD_ID:5685646 12130431 APOA4 apolipoprotein A4 gene DOID:784 chronic kidney disease disease_progression ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:blood plasma (human) PMID:21569504|REF_RGD_ID:5685637 12130431 APOA4 apolipoprotein A4 gene DOID:8577 ulcerative colitis ISO RGD:737553 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 12130431 APOA4 apolipoprotein A4 gene DOID:8577 ulcerative colitis severity ISO RGD:737553 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q360H (human) PMID:17206692|REF_RGD_ID:5685660 12130431 APOA4 apolipoprotein A4 gene DOID:8778 Crohn's disease severity ISO RGD:737553 D RGD:9068941 20200609 RGD protein:decreased expression:blood plasma (human) PMID:17206692|REF_RGD_ID:5685660 12130431 APOA4 apolipoprotein A4 gene DOID:8805 intermediate coronary syndrome ISO RGD:737553 D RGD:9068941 20200609 RGD protein:decreased expression:blood plasma (human) PMID:20367977|REF_RGD_ID:5685646 12130431 APOA4 apolipoprotein A4 gene DOID:8947 diabetic retinopathy ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor (human) PMID:19081814|REF_RGD_ID:5685692 12130431 APOA4 apolipoprotein A4 gene DOID:9000528 Coronary Disease no_association ISO RGD:737553 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.T347S (human) PMID:9013087|REF_RGD_ID:5685683 12130431 APOA4 apolipoprotein A4 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:737553 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.T347S (human) PMID:12676816|REF_RGD_ID:1578411 12130431 APOA4 apolipoprotein A4 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2132 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve (rat) PMID:2120218|REF_RGD_ID:2311210 12130431 APOA4 apolipoprotein A4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12130431 APOA4 apolipoprotein A4 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:737553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 12130431 APOA4 apolipoprotein A4 gene DOID:9002457 Experimental Arthritis ISO RGD:2132 D RGD:9068941 20200609 RGD protein:decreased expression:blood serum (rat) PMID:10892728|REF_RGD_ID:5685694 12130431 APOA4 apolipoprotein A4 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:737553 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas, carcinoma (human) PMID:16815451|REF_RGD_ID:5685662 12130431 APOA4 apolipoprotein A4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:737553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12130431 APOA4 apolipoprotein A4 gene DOID:9005372 Inflammation ISO RGD:2132 D RGD:9068941 20200609 RGD protein:decreased expression:blood serum (rat) PMID:10892728|REF_RGD_ID:5685694 12130431 APOA4 apolipoprotein A4 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:737553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 12130431 APOA4 apolipoprotein A4 gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:16372267|REF_RGD_ID:5685665 12130431 APOA4 apolipoprotein A4 gene DOID:9006190 Chronic Pancreatitis ISO RGD:737553 D RGD:9068941 20200609 RGD protein:decreased expression:blood plasma (human) PMID:11555832|REF_RGD_ID:5685680 12130431 APOA4 apolipoprotein A4 gene DOID:9006599 Hypertriglyceridemia ISO RGD:737553 D RGD:9068941 20200609 RGD human gene in mouse model PMID:2167514|REF_RGD_ID:5685672 12130431 APOA4 apolipoprotein A4 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:blood plasma (human) PMID:226830|REF_RGD_ID:5685673 12130431 APOA4 apolipoprotein A4 gene DOID:9007661 Dwarfism ISO RGD:737553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12130431 APOA4 apolipoprotein A4 gene DOID:9008103 Seasonal Allergic Rhinitis resistance ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:blood serum (human) PMID:20810159|REF_RGD_ID:5685642 12130431 APOA4 apolipoprotein A4 gene DOID:9008261 Chemically-Induced Disorders ISO RGD:737553 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 12130431 APOA4 apolipoprotein A4 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor (human) PMID:19081814|REF_RGD_ID:5685692 12130438 GPR153 G protein-coupled receptor 153 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603405 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12130438 GPR153 G protein-coupled receptor 153 gene DOID:630 genetic disease ISO RGD:1603405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130438 GPR153 G protein-coupled receptor 153 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12130447 SMPD3 sphingomyelin phosphodiesterase 3 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1347416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18283525 12130447 SMPD3 sphingomyelin phosphodiesterase 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1347416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12130447 SMPD3 sphingomyelin phosphodiesterase 3 gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:1551964 D RGD:9068941 20220825 MouseDO OMIM:259420 12130447 SMPD3 sphingomyelin phosphodiesterase 3 gene DOID:0110341 osteogenesis imperfecta type 2 ISO RGD:1551964 D RGD:9068941 20220825 MouseDO OMIM:166210 12130447 SMPD3 sphingomyelin phosphodiesterase 3 gene DOID:12347 osteogenesis imperfecta ISO RGD:1551964 D RGD:9068941 20220825 MouseDO 12130447 SMPD3 sphingomyelin phosphodiesterase 3 gene DOID:1240 leukemia ISO RGD:1347416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18283525 12130447 SMPD3 sphingomyelin phosphodiesterase 3 gene DOID:224 transient cerebral ischemia ISO RGD:619754 D RGD:9068941 20200609 RGD PMID:24007266|REF_RGD_ID:9588303 12130447 SMPD3 sphingomyelin phosphodiesterase 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:619754 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:20448054|REF_RGD_ID:10041059 12130447 SMPD3 sphingomyelin phosphodiesterase 3 gene DOID:630 genetic disease ISO RGD:1347416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130447 SMPD3 sphingomyelin phosphodiesterase 3 gene DOID:6432 pulmonary hypertension treatment ISO RGD:619754 D RGD:9068941 20200609 RGD PMID:19088082|REF_RGD_ID:10042965 12130447 SMPD3 sphingomyelin phosphodiesterase 3 gene DOID:9406 hypopituitarism ISO RGD:1551964 D RGD:9068941 20220825 MouseDO OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 12130447 SMPD3 sphingomyelin phosphodiesterase 3 gene DOID:9675 pulmonary emphysema ISO RGD:1347416 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:20448054|REF_RGD_ID:10041059 12130460 BCL10 BCL10 immune signaling adaptor gene DOID:0050748 marginal zone lymphoma ISO RGD:1347575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12130460 BCL10 BCL10 immune signaling adaptor gene DOID:0050873 follicular lymphoma ISO RGD:1347575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Follicular lymphoma PMID:9989495 12130460 BCL10 BCL10 immune signaling adaptor gene DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue ISO RGD:1347575 D RGD:7240710 20180523 OMIM 12130460 BCL10 BCL10 immune signaling adaptor gene DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue ISO RGD:1347575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MALT lymphoma PMID:10380920|PMID:10408400|PMID:9989495 12130460 BCL10 BCL10 immune signaling adaptor gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1347575 D RGD:7240710 20180130 OMIM 12130460 BCL10 BCL10 immune signaling adaptor gene DOID:0111939 immunodeficiency 37 ISO RGD:1347575 D RGD:7240710 20180130 OMIM 12130460 BCL10 BCL10 immune signaling adaptor gene DOID:0111939 immunodeficiency 37 ISO RGD:1347575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 37 PMID:17576681|PMID:24033266|PMID:25365219|PMID:25741868|PMID:28492532|PMID:32008135|PMID:9536098 12130460 BCL10 BCL10 immune signaling adaptor gene DOID:1520 colon carcinoma ISO RGD:1347575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:9989495 12130460 BCL10 BCL10 immune signaling adaptor gene DOID:1790 malignant mesothelioma ISO RGD:1347575 D RGD:7240710 20180130 OMIM 12130460 BCL10 BCL10 immune signaling adaptor gene DOID:1790 malignant mesothelioma ISO RGD:1347575 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mesothelioma, malignant | ClinVar Annotator: match by term: Mesothelioma, somatic PMID:10380920|PMID:10408400|PMID:25741868|PMID:28492532|PMID:9989495 12130460 BCL10 BCL10 immune signaling adaptor gene DOID:2998 testicular cancer ISO RGD:1347575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of testis PMID:10582682 12130460 BCL10 BCL10 immune signaling adaptor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1347575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia PMID:9989495 12130460 BCL10 BCL10 immune signaling adaptor gene DOID:630 genetic disease ISO RGD:1347575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12130460 BCL10 BCL10 immune signaling adaptor gene DOID:8541 Sezary's disease ISO RGD:1347575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sezary syndrome PMID:9989495 12130460 BCL10 BCL10 immune signaling adaptor gene DOID:9003566 Mesothelioma ISO RGD:1347575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mesothelioma PMID:10380920|PMID:10408400|PMID:9989495 12130460 BCL10 BCL10 immune signaling adaptor gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1347575 D RGD:7240710 20190315 OMIM 12130460 BCL10 BCL10 immune signaling adaptor gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1347575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male germ cell tumor, somatic PMID:10380920|PMID:10408400|PMID:9989495 12130467 INTS7 integrator complex subunit 7 gene DOID:1540 parathyroid carcinoma ISO RGD:1604023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12130467 INTS7 integrator complex subunit 7 gene DOID:630 genetic disease ISO RGD:1604023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130467 INTS7 integrator complex subunit 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12130491 ZBTB7B zinc finger and BTB domain containing 7B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1314302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12130491 ZBTB7B zinc finger and BTB domain containing 7B gene DOID:0111940 immunodeficiency 42 ISO RGD:1314302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12130491 ZBTB7B zinc finger and BTB domain containing 7B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12130491 ZBTB7B zinc finger and BTB domain containing 7B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12130491 ZBTB7B zinc finger and BTB domain containing 7B gene DOID:1540 parathyroid carcinoma ISO RGD:1314302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12130491 ZBTB7B zinc finger and BTB domain containing 7B gene DOID:5812 MHC class II deficiency ISO RGD:1314302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12130491 ZBTB7B zinc finger and BTB domain containing 7B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12130491 ZBTB7B zinc finger and BTB domain containing 7B gene DOID:9970 obesity ISO RGD:1314302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 12130501 VRTN vertebrae development associated gene DOID:1059 intellectual disability ISO RGD:1347442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12130501 VRTN vertebrae development associated gene DOID:630 genetic disease ISO RGD:1347442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130507 OR2T6 olfactory receptor family 2 subfamily T member 6 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1343167 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12130507 OR2T6 olfactory receptor family 2 subfamily T member 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1343167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12130507 OR2T6 olfactory receptor family 2 subfamily T member 6 gene DOID:630 genetic disease ISO RGD:1343167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130507 OR2T6 olfactory receptor family 2 subfamily T member 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12130507 OR2T6 olfactory receptor family 2 subfamily T member 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12130510 HM13 histocompatibility minor 13 gene DOID:630 genetic disease ISO RGD:1319013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130510 HM13 histocompatibility minor 13 gene DOID:9002834 Herpesviridae Infections treatment ISO RGD:1319014 D RGD:9068941 20210115 RGD PMID:24768597|PMID:31511378|REF_RGD_ID:40903051|REF_RGD_ID:40903053 12130510 HM13 histocompatibility minor 13 gene DOID:9452 fatty liver disease ISO RGD:1319014 D RGD:9068941 20210115 RGD associated with hepatitis PMID:27142248|REF_RGD_ID:40924634 12130541 AKT1S1 AKT1 substrate 1 gene DOID:630 genetic disease ISO RGD:1323832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130541 AKT1S1 AKT1 substrate 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1323832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17457363 12130541 AKT1S1 AKT1 substrate 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1323832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16397181 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:0002116 pterygium ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:conjunctiva (human) PMID:21892527|REF_RGD_ID:6771360 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:0050852 limb ischemia ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:21940947|PMID:22369073|REF_RGD_ID:6767285|REF_RGD_ID:6906905 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:0050853 chronic venous insufficiency ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:saphenous vein, venous endothelial cell (human) PMID:22737245|REF_RGD_ID:6484725 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1349615 D RGD:9068941 20220811 RGD protein:decreased expression:oral mucosa (human) PMID:26044849|REF_RGD_ID:153323290 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:0081267 graft-versus-host disease ISO RGD:1349615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM PMID:8532023 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:10923 sickle cell anemia severity ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:20306667|REF_RGD_ID:11541101 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:1115 sarcoma ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:21760628|REF_RGD_ID:6771216 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:11382 corneal neovascularization ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:21719569|PMID:22553751|REF_RGD_ID:6771213|REF_RGD_ID:6771229 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:22456311|REF_RGD_ID:6767304 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:11713 diabetic angiopathy ISO RGD:62220 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased tyrosine phosphorylation:conceptus PMID:10329590|REF_RGD_ID:2311657 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:decreased expression:T cell (human) PMID:22697005|REF_RGD_ID:6771226 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:12377 spinal muscular atrophy ISO RGD:62220 D RGD:9068941 20200609 RGD protein:decreased expression:levator auris longus, transversus abdominis (mouse) PMID:22153987|REF_RGD_ID:6767297 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:12849 autistic disorder ISO RGD:1349615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17509538 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:12849 autistic disorder ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:22717029|REF_RGD_ID:6484728 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:13922 eosinophilic esophagitis ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:esophagus (human) PMID:22331014|REF_RGD_ID:6771318 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1349615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:1588 thrombocytopenia ISO RGD:1349615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10848805 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:1936 atherosclerosis ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:22053073|REF_RGD_ID:6771176 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:1936 atherosclerosis resistance ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:17659202|REF_RGD_ID:6771223 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:1936 atherosclerosis severity ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery (human) PMID:21960570|REF_RGD_ID:6771359 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:224 transient cerebral ischemia ISO RGD:62220 D RGD:9068941 20200609 RGD protein:increased expression:brain (mouse) PMID:22382321|REF_RGD_ID:6766379 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:2394 ovarian cancer severity ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:female gonad (human) PMID:25502723|REF_RGD_ID:11541094 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:2518 orchitis ISO RGD:61927 D RGD:9068941 20200609 RGD protein:increased expression:testes, endothelial cells (rat) PMID:22351899|REF_RGD_ID:6767571 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1349615 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:3068 glioblastoma ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:21858729|REF_RGD_ID:6771207 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:3192 neurilemmoma severity ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:tumor (human) PMID:22555941|REF_RGD_ID:6771228 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:3393 coronary artery disease ISO RGD:1349615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28530674 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:3393 coronary artery disease ISO RGD:1349615 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.N536S, p.G670R (human) PMID:11795274|REF_RGD_ID:2311656 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:3393 coronary artery disease ISO RGD:1349615 D RGD:9068941 20200609 RGD DNA:polymorphism:5' utr:g.53G>A (human) PMID:12732396|REF_RGD_ID:1581010 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:3393 coronary artery disease no_association ISO RGD:1349615 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L125V (human) PMID:10780329|REF_RGD_ID:6771225 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1349615 D RGD:9068941 20210903 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:417 autoimmune disease ISO RGD:1349615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10848805 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:418 systemic scleroderma ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:decreased expression:superficial vasculature (human) PMID:20228226|REF_RGD_ID:11541095 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:418 systemic scleroderma ISO RGD:62220 D RGD:9068941 20200609 RGD protein:decreased expression:superficial vasculature (human) PMID:20228226|REF_RGD_ID:11541095 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:4248 coronary stenosis ISO RGD:1349615 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L125V, p.S563N (human) PMID:10571959|REF_RGD_ID:1598382 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:5082 liver cirrhosis ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:blood microparticle (human) PMID:22465620|REF_RGD_ID:6771231 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:5844 myocardial infarction ISO RGD:1349615 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R643G (human) PMID:15488875|REF_RGD_ID:6771224 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:5844 myocardial infarction no_association ISO RGD:1349615 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L125V, p.S563N (human) PMID:15265022|REF_RGD_ID:1581009 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:5844 myocardial infarction onset ISO RGD:1349615 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.N563S, p.G670R (human) PMID:11795274|REF_RGD_ID:2311656 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:6432 pulmonary hypertension treatment ISO RGD:61927 D RGD:9068941 20200609 RGD PMID:22559233|REF_RGD_ID:10400914 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:680 tauopathy ISO RGD:62220 D RGD:9068941 20200609 RGD protein:increased expression:brain, blood vessel (mouse) PMID:21839061|REF_RGD_ID:6771210 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:769 neuroblastoma ISO RGD:1349615 D RGD:9068941 20200609 RGD human tumor in mouse model PMID:22174364|REF_RGD_ID:6767296 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:799 varicose veins ISO RGD:1349615 D RGD:9068941 20221110 RGD mRNA,protein:decreased expression:endothelium: PMID:26808710|REF_RGD_ID:11529441 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:824 periodontitis ISO RGD:62220 D RGD:9068941 20200609 RGD protein:increased expression:gingiva, blood vessels (mouse) PMID:21979132|REF_RGD_ID:6771178 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:8283 peritonitis treatment ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:8113674|REF_RGD_ID:11541096 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:8398 osteoarthritis ISO RGD:61927 D RGD:9068941 20200609 RGD mRNA:increased expression:tibia (rat) PMID:21864409|REF_RGD_ID:6771362 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:853 polymyalgia rheumatica ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:plasma, endothelial microparticle (human) PMID:22211720|REF_RGD_ID:6771319 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:16521495|REF_RGD_ID:11552593 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:8692 myeloid leukemia ISO RGD:1349615 D RGD:9068941 20200609 RGD mRNA:increased expression:blood (human) PMID:23772643|REF_RGD_ID:11541098 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:874 bacterial pneumonia ISO RGD:61927 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:12524254|REF_RGD_ID:724645 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9000310 Lung Injury ISO RGD:62220 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:lung (mouse) PMID:22806890|REF_RGD_ID:6771215 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9000352 Vascular System Injuries ISO RGD:61927 D RGD:9068941 20200609 RGD PMID:22552115|REF_RGD_ID:6484736 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9000528 Coronary Disease ISO RGD:1349615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Three Vessel Coronary Disease PMID:8532023 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9000656 Penetrating Wounds ISO RGD:1349615 D RGD:9068941 20200609 RGD PMID:22092840|REF_RGD_ID:6771175 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9000656 Penetrating Wounds ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:22615899|REF_RGD_ID:6771227 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:61927 D RGD:9068941 20200609 RGD mRNA:altered expression:jejunum, duodenum, ileum (rat) PMID:22227376|REF_RGD_ID:6767294 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9000998 Brain Injuries ISO RGD:61927 D RGD:9068941 20200609 RGD PMID:22658532|REF_RGD_ID:6484732 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:coronary artery, intima (human) PMID:22336504|REF_RGD_ID:6767292 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349615 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:increased expression:glomerulus PMID:15042541|REF_RGD_ID:2311655 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:B cell (human) PMID:12673718|REF_RGD_ID:11541127 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002457 Experimental Arthritis ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:21982514|REF_RGD_ID:6771177 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002457 Experimental Arthritis ISO RGD:62220 D RGD:9068941 20200609 RGD protein:increased expression:knee joint, blood vessels (mouse) PMID:22548760|REF_RGD_ID:6484738 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002457 Experimental Arthritis severity ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:14613294|REF_RGD_ID:6771222 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002488 Peritoneal Fibrosis ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:22101032|REF_RGD_ID:6771356 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002493 Ocular Neovascularization treatment ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:20538980|REF_RGD_ID:11541082 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002589 Bone Fractures ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:21788831|REF_RGD_ID:6771211 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:22832932|REF_RGD_ID:6771355 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9003204 Neovascularization, Pathologic treatment ISO RGD:62220 D RGD:9068941 20200609 RGD Ocular Neovascularization PMID:20538980|REF_RGD_ID:11541082 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1349615 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L125V (human) PMID:25846278|REF_RGD_ID:11541089 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9004009 Reperfusion Injury ISO RGD:61927 D RGD:9068941 20200609 RGD PMID:12121711|REF_RGD_ID:2311660 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9004009 Reperfusion Injury ISO RGD:61927 D RGD:9068941 20200609 RGD protein:decreased expression:lung (rat) PMID:21872880|REF_RGD_ID:6771206 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9004009 Reperfusion Injury ISO RGD:62220 D RGD:9068941 20200609 RGD protein:increased expression:brain (mouse) PMID:22382321|REF_RGD_ID:6766379 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:62220 D RGD:9068941 20200609 RGD protein:increased expression:myeloid suppressor cell (mouse) PMID:22451518|REF_RGD_ID:6771205 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9004593 Drug-Induced Immune Thrombocytopenia ISO RGD:1349615 D RGD:9068941 20200609 RGD PMID:10942385|REF_RGD_ID:11541093 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9004593 Drug-Induced Immune Thrombocytopenia severity ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:17234740|REF_RGD_ID:11541120 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9004610 Acute Lung Injury ISO RGD:61927 D RGD:9068941 20200609 RGD PMID:22592748|REF_RGD_ID:6483494 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61927 D RGD:9068941 20200609 RGD protein:decreased expression:corpus callosum, endothelium (rat) PMID:21967314|REF_RGD_ID:6771179 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9005721 Preeclamptic Toxemia ISO RGD:1349615 D RGD:9068941 20200609 RGD PMID:22534418|REF_RGD_ID:6771230 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9005930 Endotoxemia ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:22119535|REF_RGD_ID:6771174 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:61927 D RGD:9068941 20200609 RGD PMID:21781312|REF_RGD_ID:6771212 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:61927 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage (rat) PMID:16449942|REF_RGD_ID:11541083 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:61927 D RGD:9068941 20200609 RGD PMID:8989147|REF_RGD_ID:2311662 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9008 psoriatic arthritis ISO RGD:1349615 D RGD:9068941 20200609 RGD PMID:22751595|REF_RGD_ID:6771221 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9008091 Optic Nerve Injuries ISO RGD:61927 D RGD:9068941 20200609 RGD protein:increased expression:optic nerve (rat) PMID:22336118|REF_RGD_ID:6767293 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:21702037|REF_RGD_ID:6771214 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9008939 Breast Neoplasms ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:21890879|REF_RGD_ID:6771361 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:62220 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow stem cell (mouse) PMID:21984919|REF_RGD_ID:6771358 12130565 PECAM1 platelet and endothelial cell adhesion molecule 1 gene DOID:9643 babesiosis ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:25539588|REF_RGD_ID:11541121 12130594 EBF3 EBF transcription factor 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1346410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12130594 EBF3 EBF transcription factor 3 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1346410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12130594 EBF3 EBF transcription factor 3 gene DOID:0081176 hypotonia, ataxia, and delayed development syndrome ISO RGD:1346410 D RGD:7240710 20190315 OMIM 12130594 EBF3 EBF transcription factor 3 gene DOID:0081176 hypotonia, ataxia, and delayed development syndrome ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypotonia, ataxia, and delayed development syndrome PMID:19627984|PMID:20300201|PMID:25741868|PMID:28017370|PMID:28017372|PMID:28017373|PMID:28487885|PMID:28492532|PMID:29062322|PMID:29162653|PMID:31952901|PMID:32366537|PMID:32581362|PMID:32637629|PMID:33102976|PMID:33956416|PMID:35340043 12130594 EBF3 EBF transcription factor 3 gene DOID:1059 intellectual disability ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28017370|PMID:28017372|PMID:33956416|PMID:35340043 12130594 EBF3 EBF transcription factor 3 gene DOID:12143 neurogenic bladder ISO RGD:1346410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurogenic bladder PMID:28017373|PMID:32366537|PMID:33956416 12130594 EBF3 EBF transcription factor 3 gene DOID:12859 choreatic disease ISO RGD:1346410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal dyskinesia PMID:32581362 12130594 EBF3 EBF transcription factor 3 gene DOID:13501 Moebius syndrome ISO RGD:1346410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 12130594 EBF3 EBF transcription factor 3 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate PMID:25741868|PMID:28017370|PMID:28017372|PMID:33956416|PMID:35340043 12130594 EBF3 EBF transcription factor 3 gene DOID:630 genetic disease ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19627984|PMID:20300201|PMID:20876732|PMID:25741868|PMID:28017370|PMID:28017372|PMID:28017373|PMID:28487885|PMID:28492532|PMID:29062322|PMID:29162653|PMID:32637629|PMID:33102976|PMID:33956416|PMID:35340043|PMID:7796816 12130594 EBF3 EBF transcription factor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28017370|PMID:31952901|PMID:33956416 12130594 EBF3 EBF transcription factor 3 gene DOID:9004866 Ataxia ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dyssynergia PMID:25741868|PMID:28017370|PMID:28017372|PMID:33956416|PMID:35340043 12130594 EBF3 EBF transcription factor 3 gene DOID:9005466 Language Development Disorders ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Expressive language delay PMID:25741868|PMID:28017370|PMID:28017372|PMID:33956416|PMID:35340043 12130594 EBF3 EBF transcription factor 3 gene DOID:9005603 Muscle Hypotonia ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: poor muscle tone PMID:25741868|PMID:28017370|PMID:28017372|PMID:33956416|PMID:35340043 12130594 EBF3 EBF transcription factor 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28017370|PMID:28017372|PMID:32581362|PMID:33956416|PMID:35340043 12130614 IL1F10 interleukin 1 family member 10 gene DOID:0080474 pustular psoriasis 14 ISO RGD:1313781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized pustular psoriasis PMID:19494218|PMID:21792839|PMID:21848462|PMID:22940634|PMID:23698098|PMID:26100510|PMID:28492532 12130614 IL1F10 interleukin 1 family member 10 gene DOID:289 endometriosis ISO RGD:1313781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometriosis 12130614 IL1F10 interleukin 1 family member 10 gene DOID:630 genetic disease ISO RGD:1313781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130614 IL1F10 interleukin 1 family member 10 gene DOID:9007151 Deficiency of Interleukin-1 Receptor Antagonist ISO RGD:1313781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis PMID:19494218|PMID:21792839|PMID:22940634|PMID:23698098|PMID:26100510|PMID:28492532 12130626 C17H2orf68 chromosome 17 C2orf68 homolog gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1606379 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 12130626 C17H2orf68 chromosome 17 C2orf68 homolog gene DOID:630 genetic disease ISO RGD:1606379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130638 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:0060081 triple-receptor negative breast cancer ISO RGD:1316162 D RGD:9068941 20200609 RGD protein:increased expression:breast: PMID:21965755|REF_RGD_ID:9684941 12130638 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:0080199 colorectal carcinoma treatment ISO RGD:1316162 D RGD:9068941 20200609 RGD PMID:19528090|REF_RGD_ID:9684940 12130638 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:0112249 GAPO syndrome ISO RGD:1316162 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GAPO syndrome PMID:23602711|PMID:24033266|PMID:25045128|PMID:25741868|PMID:28492532|PMID:9180938|PMID:9298746 12130638 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:0112249 GAPO syndrome susceptibility ISO RGD:1316162 D RGD:7240710 20230505 OMIM 12130638 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:1612 breast cancer disease_progression ISO RGD:1316162 D RGD:9068941 20200609 RGD mRNA:increased expression:breast: PMID:17016666|REF_RGD_ID:9684946 12130638 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:4948 gallbladder carcinoma severity ISO RGD:1316162 D RGD:9068941 20200609 RGD PMID:21545221|REF_RGD_ID:9684943 12130638 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:1316162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:28655553|PMID:29436111 12130638 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1316163 D RGD:9068941 20200609 RGD PMID:20650339|REF_RGD_ID:9684932 12130638 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1316162 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental; PMID:22085271|REF_RGD_ID:9684855 12130638 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:9004118 Experimental Melanoma ISO RGD:1316163 D RGD:9068941 20200609 RGD PMID:19622764|REF_RGD_ID:9684925 12130638 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:1316162 D RGD:9068941 20200609 RGD PMID:19609240|REF_RGD_ID:9684939 12130638 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:1316162 D RGD:9068941 20200609 RGD PMID:22085271|REF_RGD_ID:9684855 12130638 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:1316162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY PMID:18931684 12130638 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:9008660 Infantile Capillary Hemangioma susceptibility ISO RGD:1316162 D RGD:7240710 20230505 OMIM 12130638 ANTXR1 ANTXR cell adhesion molecule 1 gene DOID:9256 colorectal cancer ISO RGD:1316162 D RGD:9068941 20200609 RGD mRNA:increased expression:blood: PMID:21573768|REF_RGD_ID:9684945 12130668 CYP20A1 cytochrome P450 family 20 subfamily A member 1 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1606532 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12130668 CYP20A1 cytochrome P450 family 20 subfamily A member 1 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1606532 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12130668 CYP20A1 cytochrome P450 family 20 subfamily A member 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1606532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12130668 CYP20A1 cytochrome P450 family 20 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1606532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130668 CYP20A1 cytochrome P450 family 20 subfamily A member 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1606532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12130668 CYP20A1 cytochrome P450 family 20 subfamily A member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12130668 CYP20A1 cytochrome P450 family 20 subfamily A member 1 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1606532 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12130751 Ep300 E1A binding protein p300 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1552027 D RGD:9068941 20200609 RGD PMID:18351623|REF_RGD_ID:2312288 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:0050156 idiopathic pulmonary fibrosis treatment ISO RGD:620036 D RGD:9068941 20220121 RGD PMID:30119248|REF_RGD_ID:151347411 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1601882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1601882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1601882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:28492532 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:10763 hypertension ISO RGD:620036 D RGD:9068941 20200609 RGD protein:increased expression:left ventricle (rat) PMID:18292809|REF_RGD_ID:2312265 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:114 heart disease ISO RGD:620036 D RGD:9068941 20200609 RGD associated with Hypertension; protein:increased expression:heart (rat) PMID:18697823|REF_RGD_ID:2311717 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:12858 Huntington's disease ISO RGD:1552027 D RGD:9068941 20200609 RGD PMID:12586550|REF_RGD_ID:13432192 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:224 transient cerebral ischemia ISO RGD:620036 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebrum, ipsilateral side (rat) PMID:22196858|REF_RGD_ID:7349341 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:2920 membranoproliferative glomerulonephritis treatment ISO RGD:620036 D RGD:9068941 20200609 RGD PMID:24344329|REF_RGD_ID:9588308 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:3827 congenital diaphragmatic hernia ISO RGD:620036 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:24488106|REF_RGD_ID:9588310 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:630 genetic disease ISO RGD:1601882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:684 hepatocellular carcinoma ISO RGD:620036 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:17083329|REF_RGD_ID:2312274 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:8947 diabetic retinopathy ISO RGD:620036 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21885871|REF_RGD_ID:7349382 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:9002165 Diabetic Nephropathies ISO RGD:620036 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:kidney (rat) PMID:19268536|REF_RGD_ID:2311716 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:620036 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19268536|REF_RGD_ID:2311716 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:9002211 Hyperalgesia ISO RGD:620036 D RGD:9068941 20200609 RGD PMID:25263804|REF_RGD_ID:9588307 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:9003936 Cardiomegaly ISO RGD:620036 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA:increased expression:heart left ventricle (rat) PMID:23211718|REF_RGD_ID:7327187 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:9004009 Reperfusion Injury ISO RGD:620036 D RGD:9068941 20200609 RGD retina; protein:altered localization:Hsp70, promoter (rat) PMID:22143029|REF_RGD_ID:5686888 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:9004009 Reperfusion Injury treatment ISO RGD:620036 D RGD:9068941 20200609 RGD retina PMID:22143029|REF_RGD_ID:5686888 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:9004484 Sepsis ISO RGD:620036 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:muscle part of extensor digitorum longus (rat) PMID:20538901|REF_RGD_ID:7364733 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:9004756 Brain Hypoxia ISO RGD:620036 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus (rat) PMID:19103185|REF_RGD_ID:2311713 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:9004974 Painful Neuropathy ISO RGD:620036 D RGD:9068941 20200609 RGD mRNA:increased expression:lumbar spinal cord (rat) PMID:23176208|REF_RGD_ID:7327202 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:9004974 Painful Neuropathy treatment ISO RGD:620036 D RGD:9068941 20200609 RGD PMID:23176208|REF_RGD_ID:7327202 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620036 D RGD:9068941 20200609 RGD PMID:18413674|REF_RGD_ID:2312263 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620036 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:18657544|REF_RGD_ID:2312287 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:620036 D RGD:9068941 20200609 RGD PMID:22228707|REF_RGD_ID:7296926 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:9005930 Endotoxemia ISO RGD:620036 D RGD:9068941 20200609 RGD associated with Kidney Reperfusion Injury; protein:altered localization:kidney (rat) PMID:23936185|REF_RGD_ID:7257563 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:620036 D RGD:9068941 20200609 RGD protein:altered localization:kidney (rat) PMID:23936185|REF_RGD_ID:7257563 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:9007159 Nervous System Lead Poisoning ISO RGD:620036 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:24291742|REF_RGD_ID:9588309 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:9008091 Optic Nerve Injuries ISO RGD:620036 D RGD:9068941 20200609 RGD protein:decreased expression:retinal ganglion cell layer (rat) PMID:21705428|REF_RGD_ID:7349392 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:9074 systemic lupus erythematosus ISO RGD:1552027 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12130751 ZC3H7B zinc finger CCCH-type containing 7B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1552027 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:renal glomerulus (mouse) PMID:23737551|REF_RGD_ID:7257568 12130778 CDK15 cyclin dependent kinase 15 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1314644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12130778 CDK15 cyclin dependent kinase 15 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1314644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12130778 CDK15 cyclin dependent kinase 15 gene DOID:14557 primary pulmonary hypertension ISO RGD:1314644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:16429395|PMID:16429403|PMID:27453251|PMID:28492532|PMID:29743074 12130778 CDK15 cyclin dependent kinase 15 gene DOID:630 genetic disease ISO RGD:1314644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130778 CDK15 cyclin dependent kinase 15 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1314644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12130778 CDK15 cyclin dependent kinase 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12130778 CDK15 cyclin dependent kinase 15 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1314644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12130796 TM4SF5 transmembrane 4 L six family member 5 gene DOID:630 genetic disease ISO RGD:1318639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130805 TNC tenascin C gene DOID:0080322 polycystic kidney disease ISO RGD:621057 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:15565633|REF_RGD_ID:4889614 12130805 TNC tenascin C gene DOID:0110581 autosomal dominant nonsyndromic deafness 56 ISO RGD:1354144 D RGD:7240710 20180130 OMIM 12130805 TNC tenascin C gene DOID:0110581 autosomal dominant nonsyndromic deafness 56 ISO RGD:1354144 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 56 PMID:21681106|PMID:23936043|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29531218|PMID:30311386|PMID:31190668 12130805 TNC tenascin C gene DOID:10003 sensorineural hearing loss ISO RGD:1354144 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:25741868 12130805 TNC tenascin C gene DOID:10320 asbestosis ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:pleura PMID:10950882|REF_RGD_ID:4889594 12130805 TNC tenascin C gene DOID:106 pleural tuberculosis ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:pleura PMID:10950882|REF_RGD_ID:4889594 12130805 TNC tenascin C gene DOID:11204 allergic conjunctivitis ISO RGD:1354144 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18305139|REF_RGD_ID:4889589 12130805 TNC tenascin C gene DOID:11830 myopia ISO RGD:1354144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868 12130805 TNC tenascin C gene DOID:13100 intracranial vasospasm ISO RGD:1354144 D RGD:9068941 20200609 RGD associated with Subarachnoid Hemorrhage;protein:increased expression:serum PMID:19589197|REF_RGD_ID:4889600 12130805 TNC tenascin C gene DOID:1324 lung cancer ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:16928692|REF_RGD_ID:4889612 12130805 TNC tenascin C gene DOID:13406 pulmonary sarcoidosis ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:9780295|REF_RGD_ID:4889595 12130805 TNC tenascin C gene DOID:1532 pleural disease ISO RGD:1354144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10950882 12130805 TNC tenascin C gene DOID:1909 melanoma ISO RGD:1354144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 12130805 TNC tenascin C gene DOID:2841 asthma ISO RGD:1354144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16115819 12130805 TNC tenascin C gene DOID:2841 asthma ISO RGD:1354144 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.L1677I (human) PMID:16115819|REF_RGD_ID:4889569 12130805 TNC tenascin C gene DOID:2841 asthma ISO RGD:1354144 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18305139|REF_RGD_ID:4889589 12130805 TNC tenascin C gene DOID:2841 asthma ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:bronchus basement membrane PMID:9310019|REF_RGD_ID:4889572 12130805 TNC tenascin C gene DOID:2841 asthma ISO RGD:1615156 D RGD:9068941 20200609 RGD PMID:17125141|REF_RGD_ID:4889565 12130805 TNC tenascin C gene DOID:289 endometriosis ISO RGD:1354144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12130805 TNC tenascin C gene DOID:3068 glioblastoma ISO RGD:1354144 D RGD:9068941 20200609 RGD PMID:16928692|REF_RGD_ID:4889612 12130805 TNC tenascin C gene DOID:3070 high grade glioma ISO RGD:621057 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:16928692|REF_RGD_ID:4889612 12130805 TNC tenascin C gene DOID:3798 pleural empyema ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:pleura PMID:10950882|REF_RGD_ID:4889594 12130805 TNC tenascin C gene DOID:4947 cholangiocarcinoma severity ISO RGD:621057 D RGD:9068941 20200609 RGD PMID:20816680|REF_RGD_ID:4889598 12130805 TNC tenascin C gene DOID:552 pneumonia ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:serum, respiratory system fluid/secretion PMID:19721293|REF_RGD_ID:4889573 12130805 TNC tenascin C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12130805 TNC tenascin C gene DOID:5844 myocardial infarction ISO RGD:621057 D RGD:9068941 20200609 RGD protein:increased expression:heart, fibroblast PMID:11454990|REF_RGD_ID:4889618 12130805 TNC tenascin C gene DOID:630 genetic disease ISO RGD:1354144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30311386 12130805 TNC tenascin C gene DOID:6432 pulmonary hypertension ISO RGD:1354144 D RGD:9068941 20200609 RGD PMID:16782755|REF_RGD_ID:4889567 12130805 TNC tenascin C gene DOID:6432 pulmonary hypertension ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20528622|REF_RGD_ID:4889562 12130805 TNC tenascin C gene DOID:6432 pulmonary hypertension ISO RGD:621057 D RGD:9068941 20200609 RGD PMID:15879421|REF_RGD_ID:4889570 12130805 TNC tenascin C gene DOID:6432 pulmonary hypertension severity ISO RGD:621057 D RGD:9068941 20200609 RGD PMID:19288153|REF_RGD_ID:4889564 12130805 TNC tenascin C gene DOID:799 varicose veins ISO RGD:1354144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17643059 12130805 TNC tenascin C gene DOID:841 extrinsic allergic alveolitis ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:9780295|REF_RGD_ID:4889595 12130805 TNC tenascin C gene DOID:850 lung disease ISO RGD:10271 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:16690978|REF_RGD_ID:4889568 12130805 TNC tenascin C gene DOID:850 lung disease ISO RGD:1615156 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:20833777|REF_RGD_ID:4889561 12130805 TNC tenascin C gene DOID:9000039 Spinal Cord Injuries ISO RGD:621057 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:11085900|REF_RGD_ID:4889619 12130805 TNC tenascin C gene DOID:9000310 Lung Injury ISO RGD:1354144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18978301 12130805 TNC tenascin C gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:621057 D RGD:9068941 20200609 RGD protein:increased expression:basilar artery PMID:19589197|REF_RGD_ID:4889600 12130805 TNC tenascin C gene DOID:9000965 Neoplasm Metastasis ISO RGD:1354144 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell;protein:increased expression:lung PMID:16928692|REF_RGD_ID:4889612 12130805 TNC tenascin C gene DOID:9001472 Nasal Polyps ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium PMID:12916355|REF_RGD_ID:4889591 12130805 TNC tenascin C gene DOID:9003566 Mesothelioma ISO RGD:1354144 D RGD:9068941 20200609 RGD PMID:16928692|REF_RGD_ID:4889612 12130805 TNC tenascin C gene DOID:9003566 Mesothelioma disease_progression ISO RGD:1354144 D RGD:9068941 20200609 RGD PMID:12605648|REF_RGD_ID:4889571 12130805 TNC tenascin C gene DOID:9004538 Hearing Loss ISO RGD:1354144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 12130805 TNC tenascin C gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621057 D RGD:9068941 20200609 RGD PMID:17999372|REF_RGD_ID:4889609 12130805 TNC tenascin C gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1354144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 12130805 TNC tenascin C gene DOID:9007480 Hyperoxia ISO RGD:1615156 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:17001473|REF_RGD_ID:4889566 12130805 TNC tenascin C gene DOID:9007736 Vertigo ISO RGD:1354144 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Vertigo PMID:25741868 12130805 TNC tenascin C gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:621057 D RGD:9068941 20200609 RGD PMID:20554738|REF_RGD_ID:4889599 12130863 TIE1 tyrosine kinase with immunoglobulin like and EGF like domains 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1346429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12130863 TIE1 tyrosine kinase with immunoglobulin like and EGF like domains 1 gene DOID:630 genetic disease ISO RGD:1346429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130863 TIE1 tyrosine kinase with immunoglobulin like and EGF like domains 1 gene DOID:9004103 Lymphatic Malformation 11 ISO RGD:1346429 D RGD:7240710 20210707 OMIM 12130863 TIE1 tyrosine kinase with immunoglobulin like and EGF like domains 1 gene DOID:9004103 Lymphatic Malformation 11 ISO RGD:1346429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 11 PMID:32947856 12130894 LZTS1 leucine zipper tumor suppressor 1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:736900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 12130894 LZTS1 leucine zipper tumor suppressor 1 gene DOID:1749 squamous cell carcinoma ISO RGD:736900 D RGD:9068941 20200609 RGD esophageal squamous cell carcinoma, OMIM:133239 PMID:10097140|REF_RGD_ID:1600104 12130894 LZTS1 leucine zipper tumor suppressor 1 gene DOID:3459 breast carcinoma ISO RGD:736900 D RGD:9068941 20220421 RGD mRNA, protein:decreased exoression:breast, tumor (human) PMID:18686028|REF_RGD_ID:151893465 12130894 LZTS1 leucine zipper tumor suppressor 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic PMID:10097140 12130894 LZTS1 leucine zipper tumor suppressor 1 gene DOID:5041 esophageal cancer ISO RGD:736900 D RGD:7240710 20180418 OMIM 12130894 LZTS1 leucine zipper tumor suppressor 1 gene DOID:630 genetic disease ISO RGD:736900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12130894 LZTS1 leucine zipper tumor suppressor 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:736900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12130894 LZTS1 leucine zipper tumor suppressor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12377406 12130905 MED18 mediator complex subunit 18 gene DOID:630 genetic disease ISO RGD:1347067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130914 MYH2 myosin heavy chain 2 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:1347033 D RGD:7240710 20191002 OMIM 12130914 MYH2 myosin heavy chain 2 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:1347033 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:11114175|PMID:11889243|PMID:15548556|PMID:15741996|PMID:16130113|PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:20418530|PMID:22349865|PMID:22406018|PMID:23388406|PMID:23489661|PMID:24033266|PMID:24193343|PMID:25617006|PMID:25640679|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29934118|PMID:31127727|PMID:31321302|PMID:31407473|PMID:32578970|PMID:33250842|PMID:9536098 12130914 MYH2 myosin heavy chain 2 gene DOID:3429 inclusion body myositis ISO RGD:1347033 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy 3 PMID:16199547|PMID:20418530|PMID:23388406|PMID:24033266|PMID:24193343|PMID:25741868|PMID:28492532 12130914 MYH2 myosin heavy chain 2 gene DOID:423 myopathy ISO RGD:1347033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy 12130914 MYH2 myosin heavy chain 2 gene DOID:630 genetic disease ISO RGD:1347033 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12130914 MYH2 myosin heavy chain 2 gene DOID:9884 muscular dystrophy ISO RGD:1347033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:25741868 12130964 ZNF783 zinc finger protein 783 gene DOID:630 genetic disease ISO RGD:4140607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130978 H2BC27 H2B clustered histone 27 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1346747 D RGD:9068941 20230511 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12130978 H2BC27 H2B clustered histone 27 gene DOID:630 genetic disease ISO RGD:1346747 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12130984 PWWP2B PWWP domain containing 2B gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1316105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12130984 PWWP2B PWWP domain containing 2B gene DOID:11612 polycystic ovary syndrome ISO RGD:1316105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12130984 PWWP2B PWWP domain containing 2B gene DOID:630 genetic disease ISO RGD:1316105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:0050534 congenital stationary night blindness ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:28041643 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:0050572 cone-rod dystrophy ISO RGD:1352855 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868|PMID:30718709 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:0050795 cone dystrophy ISO RGD:1352855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:11857109|PMID:11875055|PMID:22264887|PMID:25741868|PMID:28492532|PMID:29785639 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:22929960|PMID:27701760|PMID:28492532 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:0110413 retinitis pigmentosa 6 ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 6 PMID:25741868 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:0110414 retinitis pigmentosa 3 IAGP D RGD:12801476 20210825 OMIA Progressive retinal atrophy, X-linked, type 1 PMID:7977457|PMID:10586956|PMID:10699176|PMID:17653054|PMID:11978759|PMID:17320077|PMID:17646274|PMID:12011183|PMID:11581184|PMID:22065099|PMID:10675623|PMID:22308428|PMID:27122963|PMID:27398221|PMID:7366567|PMID:32176262|PMID:32189222|PMID:19255154|PMID:24599007 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:0110414 retinitis pigmentosa 3 IAGP D RGD:12801476 20220914 OMIA Progressive retinal atrophy, X-linked, type 2 PMID:11978759|PMID:20574030|PMID:16565408|PMID:17646274|PMID:22065099|PMID:22308428|PMID:24367709|PMID:24581223|PMID:29263354|PMID:31910043|PMID:32176262|PMID:32189222|PMID:32414297|PMID:19255154|PMID:24599007|PMID:26460017|PMID:28566226|PMID:33432105|PMID:34954206 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1352855 D RGD:7240710 20211006 OMIM 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1352855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 15 | ClinVar Annotator: match by term: Retinitis pigmentosa 3 PMID:10401007|PMID:10482958|PMID:10932196|PMID:10937588|PMID:10970770|PMID:11754050|PMID:11754051|PMID:11857109|PMID:11875055|PMID:11992260|PMID:12160730|PMID:12402343|PMID:12657579|PMID:14564670|PMID:15734019|PMID:16055928|PMID:16387007|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17405150|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19815619|PMID:20631154|PMID:21326217|PMID:21866333|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23681342|PMID:24033266|PMID:25356976|PMID:25741868|PMID:25741869|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28322733|PMID:28492532|PMID:29276052|PMID:29528978|PMID:29721948|PMID:29785639|PMID:30029497|PMID:30193314|PMID:30622176|PMID:31456290|PMID:31645972|PMID:31804667|PMID:31953110|PMID:31960602|PMID:32679846|PMID:32702353|PMID:33546218|PMID:7611300|PMID:8673101|PMID:8817343|PMID:9326322|PMID:9399904|PMID:9536098|PMID:9855162 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:0111008 X-linked cone-rod dystrophy 1 ISO RGD:1352855 D RGD:7240710 20211006 OMIM 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:0111008 X-linked cone-rod dystrophy 1 ISO RGD:1352855 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: X-linked cone-rod dystrophy 1 PMID:10482958|PMID:11857109|PMID:11875055|PMID:12657579|PMID:15914600|PMID:16055928|PMID:16199547|PMID:16969763|PMID:18332319|PMID:22264887|PMID:23150612|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29785639|PMID:31630094|PMID:31645972|PMID:31804667|PMID:8673101 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:0112124 X-linked retinitis pigmentosa and sinorespiratory infections ISO RGD:1352855 D RGD:7240710 20211006 OMIM 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:0112124 X-linked retinitis pigmentosa and sinorespiratory infections ISO RGD:1352855 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness PMID:10094550|PMID:14627685|PMID:16055928|PMID:1733835|PMID:25741868|PMID:8673101 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:0112157 X-linked atrophic macular degeneration ISO RGD:1352855 D RGD:7240710 20211006 OMIM 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:0112157 X-linked atrophic macular degeneration ISO RGD:1352855 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macular degeneration, X-linked atrophic PMID:12160730|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8673101 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:10485 esophageal atresia ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:11992260|PMID:16055928|PMID:16969763|PMID:17480003|PMID:20861475|PMID:23372056|PMID:25741868|PMID:26143542|PMID:28041643|PMID:28492532|PMID:30718709|PMID:30917587|PMID:31645972|PMID:32531858|PMID:32679846|PMID:8817343 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:11992260|PMID:16055928|PMID:16969763|PMID:17480003|PMID:23372056|PMID:25741868|PMID:26143542|PMID:28041643|PMID:28492532|PMID:30718709|PMID:30917587|PMID:31645972|PMID:32531858|PMID:32679846|PMID:8817343 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:11754050|PMID:11992260|PMID:12657579|PMID:16055928|PMID:16969763|PMID:17195164|PMID:17480003|PMID:23150612|PMID:23372056|PMID:25741868|PMID:26143542|PMID:27236918|PMID:28041643|PMID:28492532|PMID:30718709|PMID:30917587|PMID:31645972|PMID:32531858|PMID:32679846|PMID:8817343 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:32531858|PMID:32679846|PMID:32702353|PMID:8673101|PMID:8817343|PMID:9536098 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:12336 male infertility ISO RGD:1557212 D RGD:9068941 20211008 RGD PMID:18579752|REF_RGD_ID:8553213 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:12849 autistic disorder ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:14791 Leber congenital amaurosis treatment ISO RGD:1557212 D RGD:9068941 20211008 RGD PMID:20384479|REF_RGD_ID:8553217 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:4448 macular degeneration ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25741868|PMID:28041643 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:630 genetic disease ISO RGD:1352855 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:8466 retinal degeneration ISO RGD:1352855 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19430481 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:8466 retinal degeneration ISO RGD:1557212 D RGD:9068941 20211008 RGD PMID:15671266|REF_RGD_ID:8553201 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:8501 fundus dystrophy ISO RGD:1352855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10480356|PMID:10932196|PMID:10937588|PMID:11180598|PMID:11754050|PMID:11857109|PMID:11875055|PMID:11992260|PMID:12160730|PMID:12657579|PMID:14564670|PMID:15734019|PMID:16055928|PMID:16199547|PMID:16387007|PMID:16969763|PMID:17195164|PMID:17576681|PMID:18332319|PMID:19815619|PMID:20631154|PMID:21326217|PMID:21857984|PMID:21866333|PMID:22264887|PMID:22888088|PMID:23150612|PMID:23372056|PMID:23681342|PMID:25741868|PMID:26872967|PMID:27620828|PMID:28322733|PMID:28492532|PMID:29528978|PMID:29721948|PMID:29785639|PMID:30029497|PMID:30718709|PMID:30917587|PMID:30924848|PMID:31054281|PMID:31087526|PMID:31645972|PMID:31804667|PMID:31953110|PMID:32037395|PMID:32679846|PMID:32702353|PMID:33090715|PMID:33576794|PMID:8673101|PMID:9326322|PMID:9399904|PMID:9536098|PMID:9855162 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:9001591 Ciliary Motility Disorders ISO RGD:1352855 D RGD:9068941 20230309 RGD associated with Retinitis Pigmentosa 3;DNA:exon, intron:g.631_IVS6+9del (human) PMID:16055928|REF_RGD_ID:1599600 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:9004538 Hearing Loss ISO RGD:1352855 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:12920075 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:9008680 Respiratory Tract Infections ISO RGD:1352855 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:12920075 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1352855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16055928|PMID:16786505|PMID:16969763|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 12131007 RPGR retinitis pigmentosa GTPase regulator gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352855 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:10480356|PMID:10482958|PMID:10737996|PMID:10932196|PMID:10937588|PMID:10946359|PMID:11180598|PMID:11754050|PMID:11793468|PMID:11857109|PMID:11875055|PMID:11992260|PMID:12160730|PMID:12402343|PMID:12657579|PMID:12859409|PMID:14564670|PMID:15734019|PMID:16055928|PMID:16199547|PMID:16387007|PMID:16786505|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17405150|PMID:17480003|PMID:17576681|PMID:17724181|PMID:17898302|PMID:18332319|PMID:18487280|PMID:18552978|PMID:19138872|PMID:19218993|PMID:19475717|PMID:19783189|PMID:19815619|PMID:20631154|PMID:20861475|PMID:21326217|PMID:21857984|PMID:21866333|PMID:22264887|PMID:22382802|PMID:22494545|PMID:22888088|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23591405|PMID:23681342|PMID:23847139|PMID:23950152|PMID:24033266|PMID:25097241|PMID:25356976|PMID:25640679|PMID:25741868|PMID:26261414|PMID:26747767|PMID:26766544|PMID:27620828|PMID:27768226|PMID:28041643|PMID:28127548|PMID:28322733|PMID:28492532|PMID:28559085|PMID:28863407|PMID:28912962|PMID:29276052|PMID:29453956|PMID:29528978|PMID:29555955|PMID:29641573|PMID:29721948|PMID:29785639|PMID:30029497|PMID:30067075|PMID:30105367|PMID:30193314|PMID:30337596|PMID:30543658|PMID:30622176|PMID:30718709|PMID:30902645|PMID:30917587|PMID:30924848|PMID:31054281|PMID:31087526|PMID:31456290|PMID:31630094|PMID:31645972|PMID:31804667|PMID:31953110|PMID:31960602|PMID:32000842|PMID:32037395|PMID:32531858|PMID:32679846|PMID:32702353|PMID:32788070|PMID:32856788|PMID:33090715|PMID:33355362|PMID:33546218|PMID:33576794|PMID:34946927|PMID:8673101|PMID:8817343|PMID:9326322|PMID:9331262|PMID:9399904|PMID:9536098|PMID:9855162|PMID:9990021 12131028 ANKRD53 ankyrin repeat domain 53 gene DOID:543 dystonia ISO RGD:1605329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12131028 ANKRD53 ankyrin repeat domain 53 gene DOID:630 genetic disease ISO RGD:1605329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131028 ANKRD53 ankyrin repeat domain 53 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1605329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12131038 GARIN1B golgi associated RAB2 interactor 1B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12131038 GARIN1B golgi associated RAB2 interactor 1B gene DOID:630 genetic disease ISO RGD:1606759 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131070 AGBL3 AGBL carboxypeptidase 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12131070 AGBL3 AGBL carboxypeptidase 3 gene DOID:630 genetic disease ISO RGD:1604170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131096 UBXN8 UBX domain protein 8 gene DOID:630 genetic disease ISO RGD:1603319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131121 GGCX gamma-glutamyl carboxylase gene DOID:0080653 urolithiasis ISO RGD:68383 D RGD:9068941 20200609 RGD protein:increased activity:kidney: PMID:9471053|REF_RGD_ID:11040514 12131121 GGCX gamma-glutamyl carboxylase gene DOID:0080653 urolithiasis ISO RGD:68554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9471053 12131121 GGCX gamma-glutamyl carboxylase gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:68554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 12131121 GGCX gamma-glutamyl carboxylase gene DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 ISO RGD:68554 D RGD:7240710 20180130 OMIM 12131121 GGCX gamma-glutamyl carboxylase gene DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 ISO RGD:68554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FACTORS II, VII, IX, AND X, COMBINED DEFICIENCY OF | ClinVar Annotator: match by term: FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY III | ClinVar Annotator: match by term: GLUTAMIC ACID, DEFICIENT GAMMA-CARBOXYLATION OF | ClinVar Annotator: match by term: VITAMIN K-DEPENDENT COAGULATION DEFECT PMID:10934213|PMID:11071668|PMID:15287948|PMID:16720838|PMID:17144668|PMID:18800149|PMID:20075945|PMID:2145029|PMID:25264593|PMID:25741868|PMID:28125048|PMID:28492532|PMID:31727138|PMID:32935436|PMID:33000479|PMID:33507293|PMID:34816548|PMID:34906475|PMID:9845520 12131121 GGCX gamma-glutamyl carboxylase gene DOID:11249 vitamin K deficiency bleeding no_association ISO RGD:68554 D RGD:9068941 20200609 RGD PMID:11154138|REF_RGD_ID:11040513 12131121 GGCX gamma-glutamyl carboxylase gene DOID:1247 blood coagulation disease ISO RGD:68554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19141161 12131121 GGCX gamma-glutamyl carboxylase gene DOID:1588 thrombocytopenia ISO RGD:68554 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532|PMID:32935436 12131121 GGCX gamma-glutamyl carboxylase gene DOID:2213 hemorrhagic disease ISO RGD:68554 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:32935436 12131121 GGCX gamma-glutamyl carboxylase gene DOID:3393 coronary artery disease ISO RGD:68554 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 12131121 GGCX gamma-glutamyl carboxylase gene DOID:630 genetic disease ISO RGD:68554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12131121 GGCX gamma-glutamyl carboxylase gene DOID:9002557 Inherited Blood Coagulation Disease ISO RGD:68554 D RGD:9068941 20200609 RGD mutation: L394R PMID:9845520|REF_RGD_ID:1598791 12131121 GGCX gamma-glutamyl carboxylase gene DOID:9003245 Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency ISO RGD:68554 D RGD:7240710 20180130 OMIM 12131121 GGCX gamma-glutamyl carboxylase gene DOID:9003245 Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency ISO RGD:68554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency PMID:17110937|PMID:17576681|PMID:18800149|PMID:25741868|PMID:28125048|PMID:28492532|PMID:29175035|PMID:32935436|PMID:33000479|PMID:33507293|PMID:34816548|PMID:34906475|PMID:9536098|PMID:9615107 12131121 GGCX gamma-glutamyl carboxylase gene DOID:9004931 Coagulation Protein Disorders ISO RGD:68554 D RGD:9068941 20200609 RGD mutation: L394R PMID:9845520|REF_RGD_ID:1598791 12131147 CRBN cereblon gene DOID:0060308 autosomal recessive intellectual developmental disorder ISO RGD:1551562 D RGD:9068941 20220825 MouseDO OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 12131147 CRBN cereblon gene DOID:0081178 autosomal recessive intellectual developmental disorder 2 ISO RGD:1321492 D RGD:7240710 20180130 OMIM 12131147 CRBN cereblon gene DOID:0081178 autosomal recessive intellectual developmental disorder 2 ISO RGD:1321492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 2 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2A PMID:10932263|PMID:15557513|PMID:18414213|PMID:18414909|PMID:23983124|PMID:24088041|PMID:24993823|PMID:25741868|PMID:26633545|PMID:28143899|PMID:28492532 12131147 CRBN cereblon gene DOID:1059 intellectual disability ISO RGD:1321492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12131147 CRBN cereblon gene DOID:630 genetic disease ISO RGD:1321492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12131147 CRBN cereblon gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12131147 CRBN cereblon gene DOID:9006534 Nervous System Malformations ISO RGD:1321492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27751757 12131147 CRBN cereblon gene DOID:9007828 Abnormalities, Drug-Induced ISO RGD:1321492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27751757 12131147 CRBN cereblon gene DOID:9538 multiple myeloma ISO RGD:1321492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12131170 PRSS55 serine protease 55 gene DOID:630 genetic disease ISO RGD:1603165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131170 PRSS55 serine protease 55 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12131191 RASGEF1A RasGEF domain family member 1A gene DOID:630 genetic disease ISO RGD:1314108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131216 ZNF106 zinc finger protein 106 gene DOID:2717 Bloom syndrome ISO RGD:1343281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12131216 ZNF106 zinc finger protein 106 gene DOID:630 genetic disease ISO RGD:1343281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131216 ZNF106 zinc finger protein 106 gene DOID:9256 colorectal cancer ISO RGD:1343281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12131244 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:734039 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 PMID:16199547|PMID:25741868|PMID:27346687|PMID:28062395|PMID:28492532|PMID:29146883 12131244 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:734039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 12131244 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:630 genetic disease ISO RGD:734039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28062395|PMID:28492532|PMID:29700810 12131244 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9001510 Funnel Chest ISO RGD:734039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:25741868 12131244 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12131244 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9004906 Congenital Bone Marrow Failure Syndromes ISO RGD:734039 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inherited bone marrow failure syndrome PMID:16199547|PMID:25741868|PMID:27346687|PMID:28062395|PMID:28492532|PMID:29146883 12131244 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9005307 Bone Marrow Failure Syndrome 3 ISO RGD:734039 D RGD:7240710 20190315 OMIM 12131244 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9005307 Bone Marrow Failure Syndrome 3 ISO RGD:734039 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bone marrow failure syndrome 3 PMID:16199547|PMID:25741868|PMID:27346687|PMID:28062395|PMID:28492532|PMID:29146883|PMID:29700810 12131269 CREBBP CREB binding protein gene DOID:0050873 follicular lymphoma ISO RGD:619552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 12131269 CREBBP CREB binding protein gene DOID:0050902 medulloblastoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 12131269 CREBBP CREB binding protein gene DOID:0050908 myelodysplastic syndrome ISO RGD:619553 D RGD:9068941 20220825 MouseDO OMIM:614286 12131269 CREBBP CREB binding protein gene DOID:0060041 autism spectrum disorder ISO RGD:619553 D RGD:9068941 20220825 MouseDO 12131269 CREBBP CREB binding protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:619552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12131269 CREBBP CREB binding protein gene DOID:0080202 adenoid cystic carcinoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 12131269 CREBBP CREB binding protein gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:619552 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12131269 CREBBP CREB binding protein gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 12131269 CREBBP CREB binding protein gene DOID:10487 Hirschsprung's disease ISO RGD:619552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:28492532 12131269 CREBBP CREB binding protein gene DOID:1059 intellectual disability ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:12566391|PMID:16359492|PMID:18414213|PMID:18792986|PMID:20684013|PMID:24088041|PMID:25388907|PMID:25741868|PMID:26633545|PMID:27311832|PMID:28492532|PMID:29460469 12131269 CREBBP CREB binding protein gene DOID:10591 pre-eclampsia ISO RGD:619552 D RGD:9068941 20220915 RGD mRNA:decreased expression:placenta (human) PMID:33625689|REF_RGD_ID:153350159 12131269 CREBBP CREB binding protein gene DOID:10652 Alzheimer's disease treatment ISO RGD:619553 D RGD:9068941 20200609 RGD PMID:21149712|REF_RGD_ID:10059608 12131269 CREBBP CREB binding protein gene DOID:10652 Alzheimer's disease treatment ISO RGD:619553 D RGD:9068941 20200609 RGD protein:increased phosphorylation:hippocampus: PMID:17760871|REF_RGD_ID:10059609 12131269 CREBBP CREB binding protein gene DOID:11054 urinary bladder cancer ISO RGD:619552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 12131269 CREBBP CREB binding protein gene DOID:12118 pulmonary hemosiderosis ISO RGD:619552 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic pulmonary hemosiderosis PMID:25741868 12131269 CREBBP CREB binding protein gene DOID:12858 Huntington's disease ISO RGD:619552 D RGD:9068941 20200609 RGD PMID:11264541|REF_RGD_ID:13432093 12131269 CREBBP CREB binding protein gene DOID:12858 Huntington's disease ISO RGD:619553 D RGD:9068941 20200609 RGD PMID:11264541|REF_RGD_ID:13432093 12131269 CREBBP CREB binding protein gene DOID:12858 Huntington's disease disease_progression ISO RGD:619553 D RGD:9068941 20200609 RGD PMID:20448484|REF_RGD_ID:13432094 12131269 CREBBP CREB binding protein gene DOID:12858 Huntington's disease treatment ISO RGD:619553 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:19291221|REF_RGD_ID:10059583 12131269 CREBBP CREB binding protein gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:619552 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 12131269 CREBBP CREB binding protein gene DOID:1682 congenital heart disease ISO RGD:619552 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 12131269 CREBBP CREB binding protein gene DOID:1686 glaucoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma PMID:25741868 12131269 CREBBP CREB binding protein gene DOID:1749 squamous cell carcinoma ISO RGD:619552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 12131269 CREBBP CREB binding protein gene DOID:1826 epilepsy ISO RGD:619552 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:28492532 12131269 CREBBP CREB binding protein gene DOID:1827 idiopathic generalized epilepsy ISO RGD:619552 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12131269 CREBBP CREB binding protein gene DOID:1882 atrial heart septal defect ISO RGD:619552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868|PMID:28492532|PMID:29460469|PMID:30755392 12131269 CREBBP CREB binding protein gene DOID:1909 melanoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 12131269 CREBBP CREB binding protein gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:619552 D RGD:7240710 20180130 OMIM 12131269 CREBBP CREB binding protein gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:619552 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:11331617|PMID:12070251|PMID:12114483|PMID:12566391|PMID:14974086|PMID:15706485|PMID:16021471|PMID:16199547|PMID:16359492|PMID:16980541|PMID:17052327|PMID:17855048|PMID:18414213|PMID:18792986|PMID:20583168|PMID:20684013|PMID:21390126|PMID:21680795|PMID:21796119|PMID:22591219|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:24088041|PMID:24728327|PMID:25388907|PMID:25599811|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25805166|PMID:26087898|PMID:26486927|PMID:26619011|PMID:26633545|PMID:27257017|PMID:27257180|PMID:27311832|PMID:28492532|PMID:28523540|PMID:28707430|PMID:28970362|PMID:29460469|PMID:29551561|PMID:33560380|PMID:7630403|PMID:8967953 12131269 CREBBP CREB binding protein gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:619552 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:11331617|PMID:12070251|PMID:12114483|PMID:12566391|PMID:14974086|PMID:15706485|PMID:16021471|PMID:16199547|PMID:16359492|PMID:16980541|PMID:17052327|PMID:17855048|PMID:18414213|PMID:18792986|PMID:20583168|PMID:20684013|PMID:21390126|PMID:21680795|PMID:21796119|PMID:22591219|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:24088041|PMID:24728327|PMID:25388907|PMID:25599811|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25805166|PMID:26087898|PMID:26486927|PMID:26619011|PMID:26633545|PMID:27257017|PMID:27257180|PMID:27311832|PMID:28492532|PMID:28523540|PMID:28707430|PMID:28970362|PMID:29460469|PMID:29551561|PMID:32170002|PMID:32827181|PMID:33560380|PMID:7630403|PMID:8967953 12131269 CREBBP CREB binding protein gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:619552 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:11331617|PMID:12070251|PMID:12114483|PMID:12566391|PMID:14974086|PMID:15706485|PMID:16021471|PMID:16199547|PMID:16359492|PMID:16980541|PMID:17052327|PMID:17576681|PMID:17855048|PMID:17942008|PMID:18414213|PMID:18688873|PMID:18792986|PMID:19833603|PMID:19852432|PMID:20358623|PMID:20583168|PMID:20684013|PMID:20689175|PMID:21302340|PMID:21390126|PMID:21680795|PMID:21796119|PMID:21932317|PMID:21984751|PMID:22307725|PMID:22591219|PMID:22664659|PMID:22832583|PMID:23063576|PMID:23334668|PMID:23685749|PMID:23778141|PMID:24088041|PMID:24728327|PMID:25108505|PMID:25388907|PMID:25599811|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25805166|PMID:26087898|PMID:26486927|PMID:26619011|PMID:26633545|PMID:26788536|PMID:26956253|PMID:27257017|PMID:27257180|PMID:27311832|PMID:28492532|PMID:28523540|PMID:28970362|PMID:29132461|PMID:29460469|PMID:29551561|PMID:30587507|PMID:30755392|PMID:31566936|PMID:32170002|PMID:32594341|PMID:32827181|PMID:33560380|PMID:33747050|PMID:7630403|PMID:8967953|PMID:9536098 12131269 CREBBP CREB binding protein gene DOID:2671 transitional cell carcinoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 12131269 CREBBP CREB binding protein gene DOID:3068 glioblastoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 12131269 CREBBP CREB binding protein gene DOID:3307 teratoma ISO RGD:619552 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 12131269 CREBBP CREB binding protein gene DOID:3717 gastric adenocarcinoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 12131269 CREBBP CREB binding protein gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:619552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 12131269 CREBBP CREB binding protein gene DOID:3907 lung squamous cell carcinoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 12131269 CREBBP CREB binding protein gene DOID:3910 lung adenocarcinoma ISO RGD:619552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 12131269 CREBBP CREB binding protein gene DOID:5409 lung small cell carcinoma ISO RGD:619552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941188 12131269 CREBBP CREB binding protein gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 12131269 CREBBP CREB binding protein gene DOID:630 genetic disease ISO RGD:619552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11023789|PMID:12070251|PMID:12114483|PMID:12566391|PMID:16021471|PMID:16359492|PMID:17576681|PMID:18414213|PMID:18792986|PMID:19651603|PMID:20684013|PMID:20689175|PMID:22591219|PMID:23651431|PMID:23934153|PMID:24521098|PMID:24728327|PMID:25388907|PMID:25741868|PMID:25741869|PMID:28492532|PMID:34516402|PMID:9215639|PMID:9536098 12131269 CREBBP CREB binding protein gene DOID:684 hepatocellular carcinoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: LIVER CELL CARCINOMA PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 12131269 CREBBP CREB binding protein gene DOID:8541 Sezary's disease ISO RGD:619552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 12131269 CREBBP CREB binding protein gene DOID:8923 skin melanoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 12131269 CREBBP CREB binding protein gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:619552 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 12131269 CREBBP CREB binding protein gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:619552 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Corpus callosum agenesis PMID:12070251|PMID:12114483|PMID:16359492|PMID:17052327|PMID:20689175|PMID:25741868|PMID:32170002|PMID:32827181 12131269 CREBBP CREB binding protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:619552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378487|PMID:25735316 12131269 CREBBP CREB binding protein gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 12131269 CREBBP CREB binding protein gene DOID:9003748 Thumb Deformity ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thumb deformity PMID:25741868 12131269 CREBBP CREB binding protein gene DOID:9003837 Au-Kline Syndrome ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki-like syndrome PMID:25741868 12131269 CREBBP CREB binding protein gene DOID:9004286 Hirschsprung Disease 1 ISO RGD:619552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hirschsprung disease 1 PMID:25741868|PMID:28492532 12131269 CREBBP CREB binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12131269 CREBBP CREB binding protein gene DOID:9006534 Nervous System Malformations ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:12566391|PMID:16359492|PMID:18414213|PMID:18792986|PMID:25388907|PMID:25741868 12131269 CREBBP CREB binding protein gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12131269 CREBBP CREB binding protein gene DOID:9006827 Lung Reperfusion Injury ameliorates ISO RGD:619553 D RGD:9068941 20220915 RGD PMID:34238924|REF_RGD_ID:153350155 12131269 CREBBP CREB binding protein gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2401 D RGD:9068941 20220915 RGD PMID:24338162|REF_RGD_ID:153352322 12131269 CREBBP CREB binding protein gene DOID:9008086 Developmental Disabilities ISO RGD:619552 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 12131269 CREBBP CREB binding protein gene DOID:9008443 Colorectal Neoplasms ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 12131269 CREBBP CREB binding protein gene DOID:9008706 Menke-Hennekam Syndrome ISO RGD:619552 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Menke-Hennekam syndrome PMID:25741868|PMID:27311832|PMID:29460469|PMID:30892814 12131269 CREBBP CREB binding protein gene DOID:9008974 Menke-Hennekam Syndrome 1 ISO RGD:619552 D RGD:7240710 20190315 OMIM 12131269 CREBBP CREB binding protein gene DOID:9008974 Menke-Hennekam Syndrome 1 ISO RGD:619552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Menke-Hennekam syndrome 1 PMID:11023789|PMID:12114483|PMID:12566391|PMID:16359492|PMID:17576681|PMID:18414213|PMID:18792986|PMID:19651603|PMID:24088041|PMID:24728327|PMID:25388907|PMID:25741868|PMID:25741869|PMID:26633545|PMID:27311832|PMID:28492532|PMID:29460469|PMID:30737887|PMID:30892814|PMID:32827181|PMID:9215639|PMID:9536098 12131269 CREBBP CREB binding protein gene DOID:9119 acute myeloid leukemia ISO RGD:619552 D RGD:9068941 20200609 RGD DNA:translocations:intron:IVS2 (human) PMID:12461753|REF_RGD_ID:734819 12131269 CREBBP CREB binding protein gene DOID:9119 acute myeloid leukemia ISO RGD:619553 D RGD:9068941 20220825 MouseDO OMIM:601626 12131269 CREBBP CREB binding protein gene DOID:9538 multiple myeloma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12131269 CREBBP CREB binding protein gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:619552 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:25917266|REF_RGD_ID:11060149 12131304 DNAH14 dynein axonemal heavy chain 14 gene DOID:1540 parathyroid carcinoma ISO RGD:1350731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12131304 DNAH14 dynein axonemal heavy chain 14 gene DOID:630 genetic disease ISO RGD:1350731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131304 DNAH14 dynein axonemal heavy chain 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350731 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12131304 DNAH14 dynein axonemal heavy chain 14 gene DOID:9008386 Hydrops Fetalis ISO RGD:1350731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 12131304 DNAH14 dynein axonemal heavy chain 14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12131400 LOC480786 regenerating islet-derived protein 4 gene DOID:0050722 PHGDH deficiency ISO RGD:1352664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:28492532 12131400 LOC480786 regenerating islet-derived protein 4 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1352664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 12131400 LOC480786 regenerating islet-derived protein 4 gene DOID:630 genetic disease ISO RGD:1352664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131400 LOC480786 regenerating islet-derived protein 4 gene DOID:9000217 Stomach Neoplasms ISO RGD:1352664 D RGD:9068941 20201127 CTD CTD Direct Evidence: marker/mechanism PMID:17237819 12131418 PREB prolactin regulatory element binding gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1352675 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12131418 PREB prolactin regulatory element binding gene DOID:630 genetic disease ISO RGD:1352675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131431 ART5 ADP-ribosyltransferase 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1347628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12131431 ART5 ADP-ribosyltransferase 5 gene DOID:0080773 delta beta-thalassemia ISO RGD:1347628 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12131431 ART5 ADP-ribosyltransferase 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1347628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12131431 ART5 ADP-ribosyltransferase 5 gene DOID:630 genetic disease ISO RGD:1347628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131448 RPS21 ribosomal protein S21 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1348628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12131448 RPS21 ribosomal protein S21 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1348628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12131448 RPS21 ribosomal protein S21 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1348628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12131448 RPS21 ribosomal protein S21 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1348628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12131448 RPS21 ribosomal protein S21 gene DOID:630 genetic disease ISO RGD:1348628 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131448 RPS21 ribosomal protein S21 gene DOID:9000217 Stomach Neoplasms ISO RGD:1348628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12131448 RPS21 ribosomal protein S21 gene DOID:9000918 Disease Progression ISO RGD:1348628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12131459 PIWIL2 piwi like RNA-mediated gene silencing 2 gene DOID:10608 celiac disease ISO RGD:1315877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 12131459 PIWIL2 piwi like RNA-mediated gene silencing 2 gene DOID:630 genetic disease ISO RGD:1315877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131459 PIWIL2 piwi like RNA-mediated gene silencing 2 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1315877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12131492 NID1 nidogen 1 gene DOID:1540 parathyroid carcinoma ISO RGD:737172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12131492 NID1 nidogen 1 gene DOID:630 genetic disease ISO RGD:737172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131492 NID1 nidogen 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12131492 NID1 nidogen 1 gene DOID:9002079 Paresis ISO RGD:737172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemiparesis PMID:25558065 12131492 NID1 nidogen 1 gene DOID:9004657 Weight Gain ISO RGD:737172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12131492 NID1 nidogen 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12131516 ZNF23 zinc finger protein 23 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1316246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12131516 ZNF23 zinc finger protein 23 gene DOID:630 genetic disease ISO RGD:1316246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131516 ZNF23 zinc finger protein 23 gene DOID:684 hepatocellular carcinoma ISO RGD:1316246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21965783 12131532 CLIP2 CAP-Gly domain containing linker protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:734383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12131532 CLIP2 CAP-Gly domain containing linker protein 2 gene DOID:10923 sickle cell anemia ISO RGD:734383 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12131532 CLIP2 CAP-Gly domain containing linker protein 2 gene DOID:12849 autistic disorder ISO RGD:734383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12131532 CLIP2 CAP-Gly domain containing linker protein 2 gene DOID:1928 Williams-Beuren syndrome ISO RGD:734383 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 12131532 CLIP2 CAP-Gly domain containing linker protein 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12131532 CLIP2 CAP-Gly domain containing linker protein 2 gene DOID:5419 schizophrenia ISO RGD:734383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12131532 CLIP2 CAP-Gly domain containing linker protein 2 gene DOID:630 genetic disease ISO RGD:734383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131532 CLIP2 CAP-Gly domain containing linker protein 2 gene DOID:8445 intestinal volvulus ISO RGD:734383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12131532 CLIP2 CAP-Gly domain containing linker protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12131532 CLIP2 CAP-Gly domain containing linker protein 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:734383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12131553 TAF6 TATA-box binding protein associated factor 6 gene DOID:0050888 syndromic intellectual disability ISO RGD:1323155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:11295558|PMID:25558065|PMID:25574841|PMID:25741868 12131553 TAF6 TATA-box binding protein associated factor 6 gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1323155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:25574841 12131553 TAF6 TATA-box binding protein associated factor 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12131553 TAF6 TATA-box binding protein associated factor 6 gene DOID:630 genetic disease ISO RGD:1323155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11295558|PMID:25558065|PMID:25574841|PMID:25741868|PMID:28492532 12131553 TAF6 TATA-box binding protein associated factor 6 gene DOID:9004446 Alazami-Yuan Syndrome ISO RGD:1323155 D RGD:7240710 20190315 OMIM 12131553 TAF6 TATA-box binding protein associated factor 6 gene DOID:9004446 Alazami-Yuan Syndrome ISO RGD:1323155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alazami-Yuan syndrome PMID:11295558|PMID:25558065|PMID:25574841|PMID:25741868|PMID:28492532 12131553 TAF6 TATA-box binding protein associated factor 6 gene DOID:9008086 Developmental Disabilities ISO RGD:1323155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:11295558|PMID:25558065|PMID:25574841|PMID:25741868 12131581 RS1 retinoschisin 1 gene DOID:0050562 West syndrome ISO RGD:1347162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: West syndrome PMID:16813600|PMID:18414213|PMID:21775177|PMID:22867051|PMID:25741868|PMID:28492532 12131581 RS1 retinoschisin 1 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1347162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12131581 RS1 retinoschisin 1 gene DOID:0060763 X-linked juvenile retinoschisis 1 ISO RGD:1347162 D RGD:7240710 20180307 OMIM 12131581 RS1 retinoschisin 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12131581 RS1 retinoschisin 1 gene DOID:0060825 Christianson syndrome ISO RGD:1347162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome-like PMID:15499549|PMID:16813600|PMID:18414213|PMID:19241098|PMID:20479760|PMID:21160487|PMID:21775177|PMID:22867051|PMID:25741868|PMID:26467025|PMID:28492532 12131581 RS1 retinoschisin 1 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1347162 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 PMID:10533068|PMID:15499549|PMID:16813600|PMID:17304053|PMID:17546640|PMID:17576681|PMID:18076117|PMID:18414213|PMID:18564362|PMID:19241098|PMID:19428276|PMID:19780792|PMID:20479760|PMID:20493745|PMID:21160487|PMID:21770923|PMID:21775177|PMID:21802232|PMID:22867051|PMID:22872100|PMID:23064044|PMID:23184456|PMID:23756444|PMID:23828526|PMID:25315662|PMID:25640679|PMID:25741868|PMID:26112015|PMID:26467025|PMID:27824329|PMID:28492532|PMID:29264392|PMID:29655203|PMID:30624022|PMID:30945684|PMID:9536098 12131581 RS1 retinoschisin 1 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1347162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12131581 RS1 retinoschisin 1 gene DOID:12849 autistic disorder ISO RGD:1347162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12131581 RS1 retinoschisin 1 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1347162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12131581 RS1 retinoschisin 1 gene DOID:630 genetic disease ISO RGD:1347162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10234514|PMID:10533068|PMID:10922205|PMID:12746437|PMID:19324861|PMID:19390641|PMID:20061330|PMID:20809529|PMID:21775177|PMID:23288992|PMID:23756444|PMID:25741868|PMID:26112015|PMID:27788217|PMID:27824329|PMID:28272453|PMID:28492532|PMID:29851975|PMID:30652005|PMID:31087526|PMID:33460243|PMID:33781268|PMID:34624300|PMID:35456481|PMID:618178|PMID:9618178 12131581 RS1 retinoschisin 1 gene DOID:8465 retinoschisis ISO RGD:1347162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Juvenile retinoschisis | ClinVar Annotator: match by term: Retinoschisis PMID:10220153|PMID:10234514|PMID:10450864|PMID:10533068|PMID:10589241|PMID:10636421|PMID:10636429|PMID:10636740|PMID:10679210|PMID:10922205|PMID:10947001|PMID:11295123|PMID:12417531|PMID:12746437|PMID:12782284|PMID:12920343|PMID:12928282|PMID:15281981|PMID:15531314|PMID:15932525|PMID:15937075|PMID:16167295|PMID:16272055|PMID:16361673|PMID:16900931|PMID:17172462|PMID:17296904|PMID:17304551|PMID:17515881|PMID:17525175|PMID:17576681|PMID:17615541|PMID:17631851|PMID:17987333|PMID:18369700|PMID:18541843|PMID:18690710|PMID:18834580|PMID:19093009|PMID:19324861|PMID:19390641|PMID:19849666|PMID:20061330|PMID:20801516|PMID:20806044|PMID:20809529|PMID:21701876|PMID:22039241|PMID:22110067|PMID:22245991|PMID:22332228|PMID:23288992|PMID:23453514|PMID:23514609|PMID:23568735|PMID:23847049|PMID:24505212|PMID:24634885|PMID:25525159|PMID:25741868|PMID:25799783|PMID:25999676|PMID:26356828|PMID:26872967|PMID:27032803|PMID:27246168|PMID:27788217|PMID:28221463|PMID:28272453|PMID:28348004|PMID:28450823|PMID:28492532|PMID:28559085|PMID:29081674|PMID:29851975|PMID:29902095|PMID:30450322|PMID:30551202|PMID:30652005|PMID:30923717|PMID:31087526|PMID:31456290|PMID:31725702|PMID:33460243|PMID:33546218|PMID:33781268|PMID:34624300|PMID:35456481|PMID:618178|PMID:6361673|PMID:9326935|PMID:9536098|PMID:9618178|PMID:9760195 12131581 RS1 retinoschisin 1 gene DOID:8465 retinoschisis treatment ISO RGD:1347162 D RGD:9068941 20200609 RGD PMID:16027044|REF_RGD_ID:9587800 12131581 RS1 retinoschisin 1 gene DOID:8465 retinoschisis treatment ISO RGD:1557176 D RGD:9068941 20200609 RGD PMID:15326152|REF_RGD_ID:9587803 12131581 RS1 retinoschisin 1 gene DOID:8501 fundus dystrophy ISO RGD:1347162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10220153|PMID:10234514|PMID:10533068|PMID:10589241|PMID:10636421|PMID:10636740|PMID:10922205|PMID:10947001|PMID:12417531|PMID:12746437|PMID:12920343|PMID:12928282|PMID:15932525|PMID:15937075|PMID:16167295|PMID:16361673|PMID:16900931|PMID:17172462|PMID:17296904|PMID:17304551|PMID:17515881|PMID:17576681|PMID:17615541|PMID:17987333|PMID:18369700|PMID:18541843|PMID:18834580|PMID:19093009|PMID:19324861|PMID:19390641|PMID:20061330|PMID:20809529|PMID:21701876|PMID:22110067|PMID:22245991|PMID:22332228|PMID:23288992|PMID:23453514|PMID:23514609|PMID:23568735|PMID:23847049|PMID:24634885|PMID:25525159|PMID:25741868|PMID:25799783|PMID:26356828|PMID:26872967|PMID:27032803|PMID:27246168|PMID:27788217|PMID:28221463|PMID:28272453|PMID:28348004|PMID:28492532|PMID:28559085|PMID:29851975|PMID:29902095|PMID:30551202|PMID:30652005|PMID:30923717|PMID:31087526|PMID:31725702|PMID:33460243|PMID:33546218|PMID:33781268|PMID:34624300|PMID:35456481|PMID:618178|PMID:9326935|PMID:9536098|PMID:9618178|PMID:9760195 12131581 RS1 retinoschisin 1 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:1347162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:17172462|PMID:20591708|PMID:21914562|PMID:22473288|PMID:28492532|PMID:9618178 12131581 RS1 retinoschisin 1 gene DOID:9001325 Rett Syndrome, Atypical ISO RGD:1347162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:19428276|PMID:28492532 12131581 RS1 retinoschisin 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1347162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:28492532 12131581 RS1 retinoschisin 1 gene DOID:9003531 Nicolaides Baraitser Syndrome ISO RGD:1347162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome PMID:25741868 12131581 RS1 retinoschisin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12131592 TRPC5 transient receptor potential cation channel subfamily C member 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12131592 TRPC5 transient receptor potential cation channel subfamily C member 5 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:733334 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart: PMID:16950785|REF_RGD_ID:10044019 12131592 TRPC5 transient receptor potential cation channel subfamily C member 5 gene DOID:1059 intellectual disability ISO RGD:733334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12131592 TRPC5 transient receptor potential cation channel subfamily C member 5 gene DOID:10763 hypertension ISO RGD:733334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17351372 12131592 TRPC5 transient receptor potential cation channel subfamily C member 5 gene DOID:12849 autistic disorder ISO RGD:733334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12131592 TRPC5 transient receptor potential cation channel subfamily C member 5 gene DOID:5419 schizophrenia ISO RGD:733334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12131592 TRPC5 transient receptor potential cation channel subfamily C member 5 gene DOID:630 genetic disease ISO RGD:733334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131592 TRPC5 transient receptor potential cation channel subfamily C member 5 gene DOID:9001542 Albuminuria ISO RGD:733335 D RGD:9068941 20200609 RGD PMID:24231357|REF_RGD_ID:10043830 12131622 FAM72A family with sequence similarity 72 member A gene DOID:0080600 COVID-19 ISO RGD:1626688 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12131622 FAM72A family with sequence similarity 72 member A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1626688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12131622 FAM72A family with sequence similarity 72 member A gene DOID:12849 autistic disorder ISO RGD:1626688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12131622 FAM72A family with sequence similarity 72 member A gene DOID:1540 parathyroid carcinoma ISO RGD:1626688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12131622 FAM72A family with sequence similarity 72 member A gene DOID:630 genetic disease ISO RGD:1626688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131622 FAM72A family with sequence similarity 72 member A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1626688 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12131622 FAM72A family with sequence similarity 72 member A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1626688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12131630 TYMS thymidylate synthetase gene DOID:0050861 colorectal adenocarcinoma ISO RGD:3921 D RGD:9068941 20200609 RGD protein:increased activity:colon (rat) PMID:10226549|REF_RGD_ID:2317418 12131630 TYMS thymidylate synthetase gene DOID:0050873 follicular lymphoma ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16410450 12131630 TYMS thymidylate synthetase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16365025 12131630 TYMS thymidylate synthetase gene DOID:0080600 COVID-19 ISO RGD:732334 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12131630 TYMS thymidylate synthetase gene DOID:11054 urinary bladder cancer ISO RGD:3921 D RGD:9068941 20200609 RGD PMID:18463958|REF_RGD_ID:2317413 12131630 TYMS thymidylate synthetase gene DOID:12849 autistic disorder ISO RGD:732334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12131630 TYMS thymidylate synthetase gene DOID:1520 colon carcinoma ISO RGD:732334 D RGD:9068941 20200609 RGD human tumor in mouse model PMID:17848948|REF_RGD_ID:5133430 12131630 TYMS thymidylate synthetase gene DOID:169 neuroendocrine tumor ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18281538 12131630 TYMS thymidylate synthetase gene DOID:1749 squamous cell carcinoma ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16280240 12131630 TYMS thymidylate synthetase gene DOID:1793 pancreatic cancer ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19020767 12131630 TYMS thymidylate synthetase gene DOID:1984 rectal benign neoplasm ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16931962 12131630 TYMS thymidylate synthetase gene DOID:2355 anemia ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19648163 12131630 TYMS thymidylate synthetase gene DOID:2729 dyskeratosis congenita ISO RGD:732334 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:25741868|PMID:35931051 12131630 TYMS thymidylate synthetase gene DOID:3910 lung adenocarcinoma ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12131630 TYMS thymidylate synthetase gene DOID:630 genetic disease ISO RGD:732334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131630 TYMS thymidylate synthetase gene DOID:674 cleft palate ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 12131630 TYMS thymidylate synthetase gene DOID:684 hepatocellular carcinoma ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18019677|PMID:18230555 12131630 TYMS thymidylate synthetase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732334 D RGD:9068941 20200609 RGD DNA:deletion:3'UTR:1494del6(human) PMID:17659576|REF_RGD_ID:14696708 12131630 TYMS thymidylate synthetase gene DOID:7148 rheumatoid arthritis treatment ISO RGD:732334 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:22763757|REF_RGD_ID:11075093 12131630 TYMS thymidylate synthetase gene DOID:863 nervous system disease ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 12131630 TYMS thymidylate synthetase gene DOID:9000217 Stomach Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15837757|PMID:18505590|PMID:18652704|PMID:19020767 12131630 TYMS thymidylate synthetase gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:732334 D RGD:9068941 20200609 RGD associated with Gastrointestinal Neoplasms;DNA:SNPs: : PMID:25677447|REF_RGD_ID:11081002 12131630 TYMS thymidylate synthetase gene DOID:9002304 Prostatic Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15999119 12131630 TYMS thymidylate synthetase gene DOID:9002720 Splenomegaly ISO RGD:3921 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:spleen (rat) PMID:11554613|REF_RGD_ID:5133431 12131630 TYMS thymidylate synthetase gene DOID:9002762 Ovarian Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21795601 12131630 TYMS thymidylate synthetase gene DOID:9002928 Colonic Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15355913|PMID:16284371|PMID:16609021|PMID:18192902|PMID:18652704|PMID:19105824 12131630 TYMS thymidylate synthetase gene DOID:9004351 Digestive System Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18281538 12131630 TYMS thymidylate synthetase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12131630 TYMS thymidylate synthetase gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18192902 12131630 TYMS thymidylate synthetase gene DOID:9005172 Lung Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18281538|PMID:19020767 12131630 TYMS thymidylate synthetase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3921 D RGD:9068941 20200609 RGD PMID:9635926|REF_RGD_ID:2315839 12131630 TYMS thymidylate synthetase gene DOID:9005873 Tongue Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16280240 12131630 TYMS thymidylate synthetase gene DOID:9006169 Head and Neck Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19020767 12131630 TYMS thymidylate synthetase gene DOID:9006205 Animal Disease Models ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12131630 TYMS thymidylate synthetase gene DOID:9006803 DYSKERATOSIS CONGENITA, DIGENIC ISO RGD:732334 D RGD:7240710 20221207 OMIM 12131630 TYMS thymidylate synthetase gene DOID:9006803 DYSKERATOSIS CONGENITA, DIGENIC ISO RGD:732334 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, digenic PMID:25741868|PMID:35931051 12131630 TYMS thymidylate synthetase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19648163|PMID:21064136|PMID:25007187|PMID:26077125 12131630 TYMS thymidylate synthetase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732334 D RGD:9068941 20220616 RGD DNA:SNP:cds:rs2853741 (human) PMID:28347776|REF_RGD_ID:152995291 12131630 TYMS thymidylate synthetase gene DOID:9008443 Colorectal Neoplasms ISO RGD:3921 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:adenocarcinoma (rat) PMID:10523711|REF_RGD_ID:5133433 12131630 TYMS thymidylate synthetase gene DOID:9008443 Colorectal Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15222106|PMID:15386371|PMID:15500737|PMID:16141798|PMID:16943523|PMID:17047489|PMID:17943475|PMID:18607850|PMID:18676755|PMID:19020767|PMID:25944804 12131630 TYMS thymidylate synthetase gene DOID:9008939 Breast Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16723031|PMID:19020767|PMID:21501481 12131630 TYMS thymidylate synthetase gene DOID:9008972 Hyperammonemia ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20714149 12131630 TYMS thymidylate synthetase gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:732334 D RGD:9068941 20200609 RGD DNA:repeats,insertion/deletion:5'UTR, 3'UTR: PMID:18774170|REF_RGD_ID:11075096 12131630 TYMS thymidylate synthetase gene DOID:9296 cleft lip ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 12131630 TYMS thymidylate synthetase gene DOID:936 brain disease ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20714149 12131630 TYMS thymidylate synthetase gene DOID:9538 multiple myeloma no_association ISO RGD:732334 D RGD:9068941 20200609 RGD DNA:repeats:5'UTR: PMID:17655928|REF_RGD_ID:11075095 12131630 TYMS thymidylate synthetase gene DOID:9538 multiple myeloma treatment ISO RGD:732334 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:17512053|REF_RGD_ID:11075094 12131630 TYMS thymidylate synthetase gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:732334 D RGD:9068941 20200609 RGD DNA:repeats: : rs347430033(human) PMID:25007187|REF_RGD_ID:11080979 12131641 MLLT6 MLLT6, PHD finger containing gene DOID:630 genetic disease ISO RGD:1315450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131665 BICC1 BicC family RNA binding protein 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1316666 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 12131665 BICC1 BicC family RNA binding protein 1 gene DOID:0080205 CAKUT ISO RGD:1316665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 12131665 BICC1 BicC family RNA binding protein 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1316666 D RGD:9068941 20220825 MouseDO OMIM:263200 12131665 BICC1 BicC family RNA binding protein 1 gene DOID:0111682 diffuse cystic renal dysplasia ISO RGD:1316665 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to PMID:21922595|PMID:25741868|PMID:28492532 12131665 BICC1 BicC family RNA binding protein 1 gene DOID:0111682 diffuse cystic renal dysplasia susceptibility ISO RGD:1316665 D RGD:7240710 20200219 OMIM 12131665 BICC1 BicC family RNA binding protein 1 gene DOID:14766 renal agenesis ISO RGD:1316665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal agenesis PMID:25741868|PMID:35005812 12131665 BICC1 BicC family RNA binding protein 1 gene DOID:2975 cystic kidney disease ISO RGD:1316666 D RGD:9068941 20220825 MouseDO 12131665 BICC1 BicC family RNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1316665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12131665 BICC1 BicC family RNA binding protein 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1316666 D RGD:9068941 20220825 MouseDO 12131706 CENPH centromere protein H gene DOID:630 genetic disease ISO RGD:1312617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131706 CENPH centromere protein H gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12131706 CENPH centromere protein H gene DOID:9007479 Habitual Abortions ISO RGD:1312617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion 12131719 SMCO3 single-pass membrane protein with coiled-coil domains 3 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1605173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12131719 SMCO3 single-pass membrane protein with coiled-coil domains 3 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1605173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12131719 SMCO3 single-pass membrane protein with coiled-coil domains 3 gene DOID:630 genetic disease ISO RGD:1605173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131728 MPHOSPH8 M-phase phosphoprotein 8 gene DOID:630 genetic disease ISO RGD:1603305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131750 CHCHD8 coiled-coil-helix-coiled-coil-helix domain containing 8 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1602710 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12131750 CHCHD8 coiled-coil-helix-coiled-coil-helix domain containing 8 gene DOID:1059 intellectual disability ISO RGD:1602710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12131750 CHCHD8 coiled-coil-helix-coiled-coil-helix domain containing 8 gene DOID:630 genetic disease ISO RGD:1602710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131779 FAM216A family with sequence similarity 216 member A gene DOID:630 genetic disease ISO RGD:1607038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131796 ARHGEF19 Rho guanine nucleotide exchange factor 19 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1312400 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12131796 ARHGEF19 Rho guanine nucleotide exchange factor 19 gene DOID:0110229 cataract 6 multiple types ISO RGD:1312400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 6 multiple types PMID:19649315|PMID:22167091|PMID:25148791|PMID:28492532 12131796 ARHGEF19 Rho guanine nucleotide exchange factor 19 gene DOID:630 genetic disease ISO RGD:1312400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131864 CUL1 cullin 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1317768 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 12131864 CUL1 cullin 1 gene DOID:0090130 cortical dysplasia-focal epilepsy syndrome ISO RGD:1317768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome PMID:16571880|PMID:22872700|PMID:28492532 12131864 CUL1 cullin 1 gene DOID:14731 Weaver syndrome ISO RGD:1317768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Weaver syndrome PMID:28492532 12131864 CUL1 cullin 1 gene DOID:630 genetic disease ISO RGD:1317768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131890 SELL selectin L gene DOID:0060180 colitis ISO RGD:3655 D RGD:9068941 20200609 RGD PMID:18054560|REF_RGD_ID:5685703 12131890 SELL selectin L gene DOID:0080162 lupus nephritis ISO RGD:737030 D RGD:9068941 20200609 RGD PMID:20512127|REF_RGD_ID:7175284 12131890 SELL selectin L gene DOID:0080600 COVID-19 ISO RGD:1342543 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12131890 SELL selectin L gene DOID:0081267 graft-versus-host disease ISO RGD:1342543 D RGD:9068941 20200609 RGD PMID:21635226|REF_RGD_ID:5685693 12131890 SELL selectin L gene DOID:10652 Alzheimer's disease severity ISO RGD:1342543 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:21484243|REF_RGD_ID:5685677 12131890 SELL selectin L gene DOID:14115 toxic shock syndrome ISO RGD:3655 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19375498|REF_RGD_ID:5685700 12131890 SELL selectin L gene DOID:1540 parathyroid carcinoma ISO RGD:1342543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12131890 SELL selectin L gene DOID:1936 atherosclerosis ISO RGD:737030 D RGD:9068941 20200609 RGD PMID:21760899|REF_RGD_ID:5685675 12131890 SELL selectin L gene DOID:2773 contact dermatitis ISO RGD:737030 D RGD:9068941 20200609 RGD PMID:20182448|REF_RGD_ID:5685684 12131890 SELL selectin L gene DOID:2841 asthma ISO RGD:737030 D RGD:9068941 20200609 RGD PMID:21437035|PMID:21515793|REF_RGD_ID:5685685|REF_RGD_ID:5685696 12131890 SELL selectin L gene DOID:289 endometriosis ISO RGD:3655 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:17845203|REF_RGD_ID:2303708 12131890 SELL selectin L gene DOID:2986 IgA glomerulonephritis ISO RGD:1342543 D RGD:9068941 20200609 RGD PMID:11828340|PMID:17452405|REF_RGD_ID:1625253|REF_RGD_ID:7175290 12131890 SELL selectin L gene DOID:341 peripheral vascular disease ISO RGD:3655 D RGD:9068941 20200609 RGD PMID:17924279|REF_RGD_ID:2316357 12131890 SELL selectin L gene DOID:4989 pancreatitis ISO RGD:3655 D RGD:9068941 20200609 RGD PMID:16214426|REF_RGD_ID:5685705 12131890 SELL selectin L gene DOID:5844 myocardial infarction ISO RGD:1342543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10070497 12131890 SELL selectin L gene DOID:630 genetic disease ISO RGD:1342543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131890 SELL selectin L gene DOID:7693 abdominal aortic aneurysm ISO RGD:3655 D RGD:9068941 20200609 RGD PMID:15998669|REF_RGD_ID:5685707 12131890 SELL selectin L gene DOID:7693 abdominal aortic aneurysm ISO RGD:737030 D RGD:9068941 20200609 RGD PMID:15998669|REF_RGD_ID:5685707 12131890 SELL selectin L gene DOID:783 end stage renal disease no_association ISO RGD:1342543 D RGD:9068941 20200609 RGD PMID:22119815|REF_RGD_ID:7175303 12131890 SELL selectin L gene DOID:8577 ulcerative colitis ISO RGD:1342543 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.F206L (human) PMID:19212205|REF_RGD_ID:13464267 12131890 SELL selectin L gene DOID:8778 Crohn's disease ISO RGD:1342543 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.F206L (human) PMID:19212205|REF_RGD_ID:13464267 12131890 SELL selectin L gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:3655 D RGD:9068941 20200609 RGD PMID:22044737|REF_RGD_ID:5685697 12131890 SELL selectin L gene DOID:9004009 Reperfusion Injury ISO RGD:3655 D RGD:9068941 20200609 RGD PMID:19489247|REF_RGD_ID:2313598 12131890 SELL selectin L gene DOID:9004283 Transplant Rejection ISO RGD:1342543 D RGD:9068941 20200609 RGD PMID:11095659|REF_RGD_ID:7175511 12131890 SELL selectin L gene DOID:9004484 Sepsis ISO RGD:3655 D RGD:9068941 20200609 RGD PMID:15677732|PMID:16026013|REF_RGD_ID:5685706|REF_RGD_ID:5686285 12131890 SELL selectin L gene DOID:9004968 Yin Deficiency ISO RGD:3655 D RGD:9068941 20220915 RGD protein:increased expression:serum PMID:29729385|REF_RGD_ID:153350148 12131890 SELL selectin L gene DOID:9005372 Inflammation ISO RGD:737030 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix, vagina PMID:22391529|REF_RGD_ID:6480101 12131890 SELL selectin L gene DOID:9006439 Electric Burns ISO RGD:3655 D RGD:9068941 20200609 RGD PMID:21641115|REF_RGD_ID:5685698 12131890 SELL selectin L gene DOID:9007096 Stroke susceptibility ISO RGD:1342543 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P213S (human) PMID:21465128|REF_RGD_ID:5685695 12131890 SELL selectin L gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1342543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12131890 SELL selectin L gene DOID:9008884 Decompression Sickness ISO RGD:3655 D RGD:9068941 20200609 RGD protein:increased expression:brain, lung, quadriceps PMID:18279101|REF_RGD_ID:5685701 12131890 SELL selectin L gene DOID:9074 systemic lupus erythematosus ISO RGD:1342543 D RGD:9068941 20200609 RGD PMID:20512127|REF_RGD_ID:7175284 12131890 SELL selectin L gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1342543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12131890 SELL selectin L gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1342543 D RGD:9068941 20200609 RGD PMID:22119815|REF_RGD_ID:7175303 12131890 SELL selectin L gene DOID:9744 type 1 diabetes mellitus ISO RGD:737030 D RGD:9068941 20220825 MouseDO OMIM:222100 12131906 GRIN2C glutamate ionotropic receptor NMDA type subunit 2C gene DOID:630 genetic disease ISO RGD:736076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131923 TBC1D17 TBC1 domain family member 17 gene DOID:630 genetic disease ISO RGD:1320164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12131944 PLCE1 phospholipase C epsilon 1 gene DOID:0080212 polycystic kidney disease 4 ISO RGD:1606000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:17086182|PMID:25741868 12131944 PLCE1 phospholipase C epsilon 1 gene DOID:0080322 polycystic kidney disease ISO RGD:1606000 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:25741868|PMID:28492532 12131944 PLCE1 phospholipase C epsilon 1 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1606000 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:20591883|REF_RGD_ID:7257521 12131944 PLCE1 phospholipase C epsilon 1 gene DOID:0080382 nephrotic syndrome type 3 ISO RGD:1606000 D RGD:7240710 20180130 OMIM 12131944 PLCE1 phospholipase C epsilon 1 gene DOID:0080382 nephrotic syndrome type 3 ISO RGD:1606000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 3 PMID:17086182|PMID:18709391|PMID:18975016|PMID:20507940|PMID:20591883|PMID:22865593|PMID:23595123|PMID:24130771|PMID:24247120|PMID:24500309|PMID:24902943|PMID:25060053|PMID:25741868|PMID:26467025|PMID:26668027|PMID:27766458|PMID:28492532|PMID:28780565|PMID:31319225 12131944 PLCE1 phospholipase C epsilon 1 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1606000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:25741868|PMID:28492532 12131944 PLCE1 phospholipase C epsilon 1 gene DOID:0111365 benign familial hematuria ISO RGD:1606000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microscopic hematuria PMID:25741868 12131944 PLCE1 phospholipase C epsilon 1 gene DOID:1184 nephrotic syndrome ISO RGD:1606000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:28492532|PMID:29127259 12131944 PLCE1 phospholipase C epsilon 1 gene DOID:1184 nephrotic syndrome onset ISO RGD:1606000 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:17086182|REF_RGD_ID:7257519 12131944 PLCE1 phospholipase C epsilon 1 gene DOID:12206 dengue hemorrhagic fever ISO RGD:1606000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22001756 12131944 PLCE1 phospholipase C epsilon 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1606000 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:18975016|PMID:20507940|PMID:25060053|PMID:25741868|PMID:26467025|PMID:28492532 12131944 PLCE1 phospholipase C epsilon 1 gene DOID:2921 glomerulonephritis ISO RGD:1606000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glomerulonephritis PMID:25741868 12131944 PLCE1 phospholipase C epsilon 1 gene DOID:299 adenocarcinoma ISO RGD:1606000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20729852 12131944 PLCE1 phospholipase C epsilon 1 gene DOID:3717 gastric adenocarcinoma ameliorates ISO RGD:1606000 D RGD:9068941 20220415 RGD human cells in a mouse model PMID:24796667|REF_RGD_ID:151708719 12131944 PLCE1 phospholipase C epsilon 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1606000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20729852|PMID:20729853 12131944 PLCE1 phospholipase C epsilon 1 gene DOID:557 kidney disease ISO RGD:1606000 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:22865593|PMID:25741868|PMID:26467025|PMID:28492532 12131944 PLCE1 phospholipase C epsilon 1 gene DOID:576 proteinuria ISO RGD:1606000 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:25741868|PMID:28492532 12131944 PLCE1 phospholipase C epsilon 1 gene DOID:630 genetic disease ISO RGD:1606000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12131944 PLCE1 phospholipase C epsilon 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20729852 12131944 PLCE1 phospholipase C epsilon 1 gene DOID:9008897 Diffuse Mesangial Sclerosis ISO RGD:1606000 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:18065803|REF_RGD_ID:7257520 12132133 PTF1A pancreas associated transcription factor 1a gene DOID:0050877 pancreatic agenesis ISO RGD:1346483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15543146|PMID:22158542|PMID:24212882 12132133 PTF1A pancreas associated transcription factor 1a gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:1346483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:25741868|PMID:28492532 12132133 PTF1A pancreas associated transcription factor 1a gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1346483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 12132133 PTF1A pancreas associated transcription factor 1a gene DOID:2786 cerebellar disease ISO RGD:1346483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15543146|PMID:19650412 12132133 PTF1A pancreas associated transcription factor 1a gene DOID:630 genetic disease ISO RGD:1346483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12132133 PTF1A pancreas associated transcription factor 1a gene DOID:9005970 Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis ISO RGD:1346483 D RGD:7240710 20180130 OMIM 12132133 PTF1A pancreas associated transcription factor 1a gene DOID:9005970 Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis ISO RGD:1346483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal, with cerebellar agenesis | ClinVar Annotator: match by term: PANCREATIC AND CEREBELLAR AGENESIS PMID:10507728|PMID:15543146|PMID:18591390|PMID:20065546|PMID:21749365|PMID:25741868|PMID:25775927|PMID:28492532 12132133 PTF1A pancreas associated transcription factor 1a gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346483 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21182459 12132133 PTF1A pancreas associated transcription factor 1a gene DOID:9007770 Pancreatic Agenesis 2 ISO RGD:1346483 D RGD:7240710 20200226 OMIM 12132133 PTF1A pancreas associated transcription factor 1a gene DOID:9007770 Pancreatic Agenesis 2 ISO RGD:1346483 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: PANCREATIC HYPOPLASIA, CONGENITAL 2 | ClinVar Annotator: match by term: Pancreatic agenesis 2 PMID:25741868|PMID:25775927|PMID:28492532 12132133 PTF1A pancreas associated transcription factor 1a gene DOID:9351 diabetes mellitus ISO RGD:1346483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:25775927|PMID:28492532 12132133 PTF1A pancreas associated transcription factor 1a gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 12132133 PTF1A pancreas associated transcription factor 1a gene DOID:9744 type 1 diabetes mellitus ISO RGD:1346483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus PMID:18591390|PMID:28492532 12132138 OR56A1 olfactory receptor family 56 subfamily A member 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1349253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12132138 OR56A1 olfactory receptor family 56 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1349253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12132159 ELSPBP1 epididymal sperm binding protein 1 gene DOID:630 genetic disease ISO RGD:1354263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12132177 ZP3 zona pellucida glycoprotein 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12132177 ZP3 zona pellucida glycoprotein 3 gene DOID:630 genetic disease ISO RGD:1352592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12132177 ZP3 zona pellucida glycoprotein 3 gene DOID:9005770 Oocyte Maturation Defect 3 ISO RGD:1352592 D RGD:7240710 20190315 OMIM 12132177 ZP3 zona pellucida glycoprotein 3 gene DOID:9005770 Oocyte Maturation Defect 3 ISO RGD:1352592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 3 PMID:25741868|PMID:28886344|PMID:30810869 12132177 ZP3 zona pellucida glycoprotein 3 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1352592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12132189 HPRT1 hypoxanthine phosphoribosyltransferase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12132189 HPRT1 hypoxanthine phosphoribosyltransferase 1 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:731296 D RGD:7240710 20180130 OMIM 12132189 HPRT1 hypoxanthine phosphoribosyltransferase 1 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:731296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HPRT1-Related Disorder | ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency PMID:10737990|PMID:11018746|PMID:11891689|PMID:1301916|PMID:1483694|PMID:15386453|PMID:15505382|PMID:1551676|PMID:15571220|PMID:16199547|PMID:16549399|PMID:17027311|PMID:17454734|PMID:17576681|PMID:1781350|PMID:18600506|PMID:19016344|PMID:1937471|PMID:20176575|PMID:2071157|PMID:20981450|PMID:22132984|PMID:22157001|PMID:2246854|PMID:22999896|PMID:2323782|PMID:2347587|PMID:2358296|PMID:23597535|PMID:23975452|PMID:25136576|PMID:2516172|PMID:25481104|PMID:25741868|PMID:2738157|PMID:28045594|PMID:28492532|PMID:2896620|PMID:2928313|PMID:3358423|PMID:3384338|PMID:6087154|PMID:6204922|PMID:6309910|PMID:6706936|PMID:7987318|PMID:8111415|PMID:8125482|PMID:9288634|PMID:9536098|PMID:9799086 12132189 HPRT1 hypoxanthine phosphoribosyltransferase 1 gene DOID:10907 microcephaly ISO RGD:731296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:15571220|PMID:17027311|PMID:22157001|PMID:2323782|PMID:23975452|PMID:25481104|PMID:25741868|PMID:28492532 12132189 HPRT1 hypoxanthine phosphoribosyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:731296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12132189 HPRT1 hypoxanthine phosphoribosyltransferase 1 gene DOID:1919 Lesch-Nyhan syndrome ISO RGD:731296 D RGD:7240710 20180130 OMIM 12132189 HPRT1 hypoxanthine phosphoribosyltransferase 1 gene DOID:1919 Lesch-Nyhan syndrome ISO RGD:731296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lesch-Nyhan syndrome PMID:10767182|PMID:11018746|PMID:11668636|PMID:1434518|PMID:15505382|PMID:1551676|PMID:15571220|PMID:1618489|PMID:1639405|PMID:16549399|PMID:17027311|PMID:17454734|PMID:1781350|PMID:1840549|PMID:1937471|PMID:20176575|PMID:2071157|PMID:22132984|PMID:22157001|PMID:2323782|PMID:2347587|PMID:23975452|PMID:2516172|PMID:25481104|PMID:25741868|PMID:2738157|PMID:2760209|PMID:28492532|PMID:28708303|PMID:2910902|PMID:2928313|PMID:31182398|PMID:3198771|PMID:3384338|PMID:3909940|PMID:3944251|PMID:6087154|PMID:6853716|PMID:8664901 12132189 HPRT1 hypoxanthine phosphoribosyltransferase 1 gene DOID:1920 hyperuricemia ISO RGD:731296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23348497 12132189 HPRT1 hypoxanthine phosphoribosyltransferase 1 gene DOID:630 genetic disease ISO RGD:731296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11018746|PMID:1301916|PMID:23975452|PMID:24940672|PMID:25420563|PMID:25481104|PMID:25482009|PMID:28492532|PMID:9003484 12132189 HPRT1 hypoxanthine phosphoribosyltransferase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:2826 D RGD:9068941 20200609 RGD protein:increased activity:hepatoma (rat) PMID:6327016|REF_RGD_ID:5135035 12132189 HPRT1 hypoxanthine phosphoribosyltransferase 1 gene DOID:9005497 Lesch-Nyhan Syndrome, Neurologic Variant ISO RGD:731296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lesch-nyhan syndrome, neurologic variant PMID:10737990|PMID:1301916|PMID:17454734|PMID:20981450|PMID:22157001|PMID:22999896|PMID:2358296|PMID:25481104|PMID:28492532 12132189 HPRT1 hypoxanthine phosphoribosyltransferase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2826 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:3043317|REF_RGD_ID:5135485 12132189 HPRT1 hypoxanthine phosphoribosyltransferase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1549982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12132212 PFDN6 prefoldin subunit 6 gene DOID:0050553 JMP syndrome ISO RGD:1351314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12132212 PFDN6 prefoldin subunit 6 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1351314 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 12132212 PFDN6 prefoldin subunit 6 gene DOID:630 genetic disease ISO RGD:1351314 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12132221 IREB2 iron responsive element binding protein 2 gene DOID:10652 Alzheimer's disease ISO RGD:733858 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2656070, rs13180(human) PMID:16914832|REF_RGD_ID:6893299 12132221 IREB2 iron responsive element binding protein 2 gene DOID:11758 iron deficiency anemia ISO RGD:621539 D RGD:9068941 20200609 RGD mRNA:increased expression:duodenal mucosa (rat) PMID:18549630|REF_RGD_ID:12904038 12132221 IREB2 iron responsive element binding protein 2 gene DOID:11758 iron deficiency anemia ISO RGD:621539 D RGD:9068941 20200609 RGD protein:altered activity:intestinal villus of duodenum (rat) PMID:10095770|REF_RGD_ID:12910699 12132221 IREB2 iron responsive element binding protein 2 gene DOID:1289 neurodegenerative disease ISO RGD:736754 D RGD:9068941 20200609 RGD PMID:18685102|REF_RGD_ID:6893298 12132221 IREB2 iron responsive element binding protein 2 gene DOID:2018 hyperinsulinism ISO RGD:621539 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:25385842|REF_RGD_ID:12903966 12132221 IREB2 iron responsive element binding protein 2 gene DOID:2355 anemia ISO RGD:621539 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain (rat) PMID:27602087|REF_RGD_ID:12903962 12132221 IREB2 iron responsive element binding protein 2 gene DOID:2355 anemia treatment ISO RGD:621539 D RGD:9068941 20200609 RGD PMID:26584806|REF_RGD_ID:12903965 12132221 IREB2 iron responsive element binding protein 2 gene DOID:2367 neuroaxonal dystrophy ISO RGD:736754 D RGD:9068941 20200609 RGD protein:increased expression:brain (mouse) PMID:26506412|REF_RGD_ID:11344088 12132221 IREB2 iron responsive element binding protein 2 gene DOID:2717 Bloom syndrome ISO RGD:733858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12132221 IREB2 iron responsive element binding protein 2 gene DOID:3910 lung adenocarcinoma ISO RGD:733858 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 12132221 IREB2 iron responsive element binding protein 2 gene DOID:630 genetic disease ISO RGD:733858 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12132221 IREB2 iron responsive element binding protein 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:621539 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (rat) PMID:27602087|REF_RGD_ID:12903962 12132221 IREB2 iron responsive element binding protein 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:733858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20390345 12132221 IREB2 iron responsive element binding protein 2 gene DOID:9004756 Brain Hypoxia ISO RGD:621539 D RGD:9068941 20200609 RGD protein:increased expression:periventricular white matter (rat) PMID:22159112|REF_RGD_ID:6893269 12132221 IREB2 iron responsive element binding protein 2 gene DOID:9005725 Iron Overload ISO RGD:621539 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex (rat) PMID:19943190|REF_RGD_ID:6893272 12132221 IREB2 iron responsive element binding protein 2 gene DOID:9006358 Postoperative Cognitive Dysfunction ISO RGD:621539 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:23229539|REF_RGD_ID:12904023 12132221 IREB2 iron responsive element binding protein 2 gene DOID:9008550 Vitamin A Deficiency ISO RGD:621539 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:22154532|REF_RGD_ID:12904026 12132221 IREB2 iron responsive element binding protein 2 gene DOID:9009167 NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA ISO RGD:733858 D RGD:7240710 20190918 OMIM 12132221 IREB2 iron responsive element binding protein 2 gene DOID:9009167 NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA ISO RGD:733858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia PMID:25741868|PMID:28492532|PMID:30915432|PMID:31243445 12132221 IREB2 iron responsive element binding protein 2 gene DOID:9256 colorectal cancer ISO RGD:733858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12132247 SNAP47 synaptosome associated protein 47 gene DOID:1540 parathyroid carcinoma ISO RGD:1601832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12132247 SNAP47 synaptosome associated protein 47 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1601832 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:34664776 12132247 SNAP47 synaptosome associated protein 47 gene DOID:630 genetic disease ISO RGD:1601832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12132247 SNAP47 synaptosome associated protein 47 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12132257 KLHDC10 kelch domain containing 10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12132257 KLHDC10 kelch domain containing 10 gene DOID:630 genetic disease ISO RGD:1602130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12132257 KLHDC10 kelch domain containing 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1602130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12132270 CWC15 CWC15 spliceosome associated protein homolog gene DOID:1059 intellectual disability ISO RGD:1604821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12132270 CWC15 CWC15 spliceosome associated protein homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1604821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12132284 DNAAF9 dynein axonemal assembly factor 9 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1349038 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12132284 DNAAF9 dynein axonemal assembly factor 9 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1349038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12132284 DNAAF9 dynein axonemal assembly factor 9 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1349038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:0050770 polycystic liver disease ISO RGD:731858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:0111252 neurofibromatosis 2 ISO RGD:731858 D RGD:7240710 20180130 OMIM 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:0111252 neurofibromatosis 2 ISO RGD:731858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:10691417|PMID:10712203|PMID:10777666|PMID:10970839|PMID:11085592|PMID:11448944|PMID:11535133|PMID:11668501|PMID:11756419|PMID:11779178|PMID:11809806|PMID:12118253|PMID:12217955|PMID:12566519|PMID:12695331|PMID:12807969|PMID:1479598|PMID:15598747|PMID:15635074|PMID:15645494|PMID:15684865|PMID:15692946|PMID:16199547|PMID:16509493|PMID:16532029|PMID:16983642|PMID:17222329|PMID:17576681|PMID:17607601|PMID:18033041|PMID:18173316|PMID:18554169|PMID:18670066|PMID:18766994|PMID:19234911|PMID:19451225|PMID:19924781|PMID:19968670|PMID:20553997|PMID:20831745|PMID:21294614|PMID:21563229|PMID:21671232|PMID:21906157|PMID:22012890|PMID:22081132|PMID:22295085|PMID:22325036|PMID:22703879|PMID:22711605|PMID:23196945|PMID:23348505|PMID:24030433|PMID:24033266|PMID:24309211|PMID:24595234|PMID:24728327|PMID:24815379|PMID:25326635|PMID:2543905|PMID:25525159|PMID:25567352|PMID:25640679|PMID:25741868|PMID:25798586|PMID:25931164|PMID:26031996|PMID:26045165|PMID:26066488|PMID:26073919|PMID:26332594|PMID:26343386|PMID:26407091|PMID:26467025|PMID:27128293|PMID:27600092|PMID:27704245|PMID:27930734|PMID:28365909|PMID:28492532|PMID:28526081|PMID:28737257|PMID:28873162|PMID:29316957|PMID:29409008|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29761250|PMID:29781505|PMID:30306255|PMID:30594554|PMID:30833958|PMID:31089872|PMID:31273341|PMID:31370276|PMID:33067351|PMID:4000972|PMID:7535084|PMID:7666400|PMID:7711726|PMID:7759081|PMID:7868131|PMID:7913580|PMID:7951231|PMID:8012353|PMID:8081368|PMID:8230593|PMID:8379998|PMID:8566958|PMID:8698340|PMID:8751853|PMID:8755919|PMID:8757035|PMID:8797533|PMID:8882871|PMID:8889506|PMID:9391890|PMID:9466988|PMID:9536098|PMID:9605590|PMID:9643284|PMID:9718334|PMID:9817921|PMID:9817927|PMID:9884492|PMID:9931334 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:0111253 neurofibromatosis 1 ISO RGD:731858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:10754 otitis media ISO RGD:731859 D RGD:9068941 20220825 MouseDO OMIM:166760 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:12270 coloboma ISO RGD:731859 D RGD:9068941 20220825 MouseDO OMIM:120200 | OMIM:120300 | OMIM:216820 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:12689 acoustic neuroma ISO RGD:731858 D RGD:9068941 20200609 RGD protein:decreased expression:myelinated nerve: PMID:20600642|REF_RGD_ID:8661792 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:1612 breast cancer ISO RGD:731858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:1790 malignant mesothelioma ISO RGD:10322,RGD:731792 D RGD:9068941 20211224 RGD PMID:32271879|REF_RGD_ID:150530636 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:1790 malignant mesothelioma ISO RGD:731858 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23435014|PMID:26463840|PMID:26678224|PMID:26928227|PMID:29112861 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:1790 malignant mesothelioma disease_progression ISO RGD:731859 D RGD:9068941 20211224 RGD PMID:16166281|REF_RGD_ID:150530640 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:1826 epilepsy ISO RGD:3169 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, hippocampus PMID:16468657|REF_RGD_ID:2315002 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:3070 high grade glioma ISO RGD:731858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:3192 neurilemmoma ISO RGD:731858 D RGD:9068941 20211217 RGD DNA:loss of heterozygosity PMID:7669741|REF_RGD_ID:150530508 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:3204 neurilemmomatosis ISO RGD:731858 D RGD:7240710 20180130 OMIM 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:3204 neurilemmomatosis ISO RGD:731858 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schwannomatosis 1 PMID:25741868|PMID:7798645|PMID:9399891 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:3565 meningioma ISO RGD:731858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meningioma PMID:16983642|PMID:18033041|PMID:21294614|PMID:22711605|PMID:23196945|PMID:25741868|PMID:26073919|PMID:28492532|PMID:29781505|PMID:31273341|PMID:33067351|PMID:7868131|PMID:8162072|PMID:8379998|PMID:8882871|PMID:9643284|PMID:9718334|PMID:9884492 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:3908 lung non-small cell carcinoma ISO RGD:731858 D RGD:9068941 20211224 RGD PMID:21743150|REF_RGD_ID:150530639 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:4235 spindle cell sarcoma ISO RGD:731858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spindle cell sarcoma PMID:28890946 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:4450 renal cell carcinoma ISO RGD:731858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:4450 renal cell carcinoma ISO RGD:731859 D RGD:9068941 20200609 RGD PMID:19487675|REF_RGD_ID:2315000 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:4450 renal cell carcinoma ISO RGD:731859 D RGD:9068941 20220825 MouseDO OMIM:300854 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:4586 familial meningioma ISO RGD:731858 D RGD:7240710 20230505 OMIM 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:4586 familial meningioma ISO RGD:731858 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial meningioma PMID:16983642|PMID:20553997|PMID:25741868|PMID:27930734|PMID:28492532|PMID:29641532 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:5648 choroid plexus carcinoma ISO RGD:731858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Choroid plexus carcinoma PMID:26822237 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:630 genetic disease ISO RGD:731858 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1484939|PMID:15684865|PMID:28492532|PMID:7535084 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:684 hepatocellular carcinoma ISO RGD:731858 D RGD:9068941 20211217 RGD PMID:27289045|REF_RGD_ID:150530504 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:684 hepatocellular carcinoma ISO RGD:731858 D RGD:9068941 20211217 RGD DNA, protein:SNP, increased expression:intron, liver PMID:29130106|REF_RGD_ID:150530489 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731858 D RGD:9068941 20211217 RGD protein:decreased expression:liver PMID:26443326|REF_RGD_ID:11076529 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:7474 malignant pleural mesothelioma ISO RGD:731858 D RGD:9068941 20211224 RGD PMID:26928227|REF_RGD_ID:150429647 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:731858 D RGD:9068941 20211224 RGD PMID:27378628|REF_RGD_ID:150530638 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:731858 D RGD:9068941 20211224 RGD DNA:loss of heterozygosity PMID:26493618|REF_RGD_ID:11553131 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:8712 neurofibromatosis ISO RGD:731859 D RGD:9068941 20220825 MouseDO OMIM:101000 | OMIM:162200 | OMIM:162210 | OMIM:162260 | OMIM:162270 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9000315 Pleural Neoplasms ISO RGD:731858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23435014 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:731858 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9003566 Mesothelioma ISO RGD:731858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12136076|PMID:12168054|PMID:12802287|PMID:16166281|PMID:16319530|PMID:18835652 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:731858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731858 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10712203|PMID:10970839|PMID:11085592|PMID:11448944|PMID:11668501|PMID:11756419|PMID:11779178|PMID:11838794|PMID:11856822|PMID:12566519|PMID:12807969|PMID:1479598|PMID:15635074|PMID:15684865|PMID:15692946|PMID:16199547|PMID:16532029|PMID:16983642|PMID:17222329|PMID:17576681|PMID:18033041|PMID:18173316|PMID:18766994|PMID:19234911|PMID:20553997|PMID:20831745|PMID:21294614|PMID:22012890|PMID:22081132|PMID:22325036|PMID:22703879|PMID:22711605|PMID:23196945|PMID:24033266|PMID:24595234|PMID:24728327|PMID:24815379|PMID:25525159|PMID:25567352|PMID:25741868|PMID:25798586|PMID:25801821|PMID:25931164|PMID:26031996|PMID:26045165|PMID:26066488|PMID:26073919|PMID:26332594|PMID:26343386|PMID:26467025|PMID:27128293|PMID:27600092|PMID:27704245|PMID:27930734|PMID:28365909|PMID:28492532|PMID:28526081|PMID:29316957|PMID:29409008|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29781505|PMID:30122282|PMID:30306255|PMID:30553997|PMID:30833958|PMID:31089872|PMID:31273341|PMID:31296571|PMID:31370276|PMID:32716568|PMID:33067351|PMID:7759081|PMID:7868131|PMID:7913580|PMID:7951231|PMID:8012353|PMID:8081368|PMID:8379998|PMID:8698340|PMID:8755919|PMID:8797533|PMID:8882871|PMID:8889506|PMID:9466988|PMID:9536098|PMID:9605590|PMID:9643284|PMID:9718334 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10712203|PMID:10970839|PMID:11085592|PMID:11448944|PMID:11668501|PMID:11756419|PMID:11779178|PMID:11838794|PMID:11856822|PMID:12566519|PMID:12807969|PMID:1479598|PMID:15635074|PMID:15684865|PMID:15692946|PMID:16199547|PMID:16532029|PMID:16983642|PMID:17222329|PMID:17576681|PMID:18033041|PMID:18173316|PMID:18766994|PMID:19234911|PMID:20553997|PMID:20831745|PMID:21294614|PMID:22012890|PMID:22081132|PMID:22325036|PMID:22703879|PMID:22711605|PMID:23196945|PMID:24033266|PMID:24595234|PMID:24728327|PMID:24815379|PMID:25525159|PMID:25567352|PMID:25741868|PMID:25798586|PMID:25801821|PMID:25931164|PMID:26031996|PMID:26045165|PMID:26066488|PMID:26073919|PMID:26332594|PMID:26343386|PMID:26467025|PMID:27128293|PMID:27600092|PMID:27704245|PMID:27930734|PMID:28365909|PMID:28492532|PMID:28526081|PMID:29316957|PMID:29409008|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29761250|PMID:29781505|PMID:30122282|PMID:30306255|PMID:30553997|PMID:30833958|PMID:31089872|PMID:31273341|PMID:31296571|PMID:31370276|PMID:32716568|PMID:33067351|PMID:7759081|PMID:7868131|PMID:7913580|PMID:7951231|PMID:8012353|PMID:8081368|PMID:8379998|PMID:8698340|PMID:8755919|PMID:8797533|PMID:8882871|PMID:8889506|PMID:9466988|PMID:9536098|PMID:9605590|PMID:9643284|PMID:9718334|PMID:9884492 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9008952 Breast Cancer, Familial ISO RGD:731858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9009121 lung metastasis ISO RGD:731858 D RGD:9068941 20211217 RGD associated with hepatocellular carcinoma PMID:26443326|REF_RGD_ID:11076529 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731858 D RGD:9068941 20211217 RGD DNA:loss of heterozygosity PMID:11123422|REF_RGD_ID:150530507 12132330 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9256 colorectal cancer ISO RGD:731858 D RGD:9068941 20211217 RGD DNA:loss of heterozygosity PMID:24323642|REF_RGD_ID:150530506 12132359 MFAP5 microfibril associated protein 5 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1317391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12132359 MFAP5 microfibril associated protein 5 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1317391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12132359 MFAP5 microfibril associated protein 5 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1317391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12132359 MFAP5 microfibril associated protein 5 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1317391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12132359 MFAP5 microfibril associated protein 5 gene DOID:0111621 Temtamy syndrome ISO RGD:1317391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12132359 MFAP5 microfibril associated protein 5 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1317391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25434006|PMID:25741868 12132359 MFAP5 microfibril associated protein 5 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1317391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25434006|PMID:25741868|PMID:28492532|PMID:33824467 12132359 MFAP5 microfibril associated protein 5 gene DOID:630 genetic disease ISO RGD:1317391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12132359 MFAP5 microfibril associated protein 5 gene DOID:65 connective tissue disease ISO RGD:1317391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868 12132359 MFAP5 microfibril associated protein 5 gene DOID:9006654 Familial Thoracic Aortic Aneurysm 9 ISO RGD:1317391 D RGD:7240710 20180130 OMIM 12132359 MFAP5 microfibril associated protein 5 gene DOID:9006654 Familial Thoracic Aortic Aneurysm 9 ISO RGD:1317391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 9 PMID:25434006|PMID:25741868|PMID:28492532|PMID:33824467 12132359 MFAP5 microfibril associated protein 5 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1317391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12132377 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0050439 Usher syndrome ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 12132377 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0060237 Warburg micro syndrome ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome PMID:28492532 12132377 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12132377 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0110717 Warburg micro syndrome 2 ISO RGD:1604372 D RGD:7240710 20180130 OMIM 12132377 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0110717 Warburg micro syndrome 2 ISO RGD:1604372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome 2 PMID:16199547|PMID:20967465|PMID:23420520|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29300443|PMID:32740904|PMID:32870266 12132377 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1604372 D RGD:7240710 20180130 OMIM 12132377 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1604372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:16532399|PMID:23420520|PMID:24891604|PMID:25741868|PMID:28492532|PMID:29300443|PMID:32740904 12132377 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:10629 microphthalmia ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmos PMID:25741868 12132377 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:10907 microcephaly ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12132377 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:13938 amenorrhea ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:25741868|PMID:28492532|PMID:32870266 12132377 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12132377 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:630 genetic disease ISO RGD:1604372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32870266 12132377 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:83 cataract ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 12132377 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:9006949 Martsolf Syndrome ISO RGD:1604372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:16199547|PMID:16532399|PMID:17576681|PMID:18414213|PMID:23420520|PMID:24033266|PMID:24891604|PMID:25533962|PMID:25741868|PMID:28492532|PMID:29300443|PMID:29419336|PMID:32740904|PMID:32870266|PMID:9536098 12132377 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1604372 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:32870266 12132377 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 12132377 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12132418 SNRPN small nuclear ribonucleoprotein polypeptide N gene DOID:0060041 autism spectrum disorder ISO RGD:1343749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545|PMID:28492532 12132418 SNRPN small nuclear ribonucleoprotein polypeptide N gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1343749 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 12132418 SNRPN small nuclear ribonucleoprotein polypeptide N gene DOID:11983 Prader-Willi syndrome ISO RGD:1343749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 12132418 SNRPN small nuclear ribonucleoprotein polypeptide N gene DOID:11983 Prader-Willi syndrome susceptibility ISO RGD:1343749 D RGD:9068941 20200609 RGD DNA:deletion PMID:8723064|REF_RGD_ID:1601354 12132418 SNRPN small nuclear ribonucleoprotein polypeptide N gene DOID:12849 autistic disorder ISO RGD:1343749 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 12132418 SNRPN small nuclear ribonucleoprotein polypeptide N gene DOID:1932 Angelman syndrome ISO RGD:1343749 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:23495136|PMID:24088041|PMID:25099823|PMID:25212744|PMID:25884337|PMID:26633545|PMID:28492532 12132418 SNRPN small nuclear ribonucleoprotein polypeptide N gene DOID:5419 schizophrenia ISO RGD:1343749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12132418 SNRPN small nuclear ribonucleoprotein polypeptide N gene DOID:630 genetic disease ISO RGD:1343749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12132418 SNRPN small nuclear ribonucleoprotein polypeptide N gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12132429 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:1320737 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lennox-Gastaut syndrome PMID:25741868 12132429 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320737 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12132429 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:0050834 CHARGE syndrome ISO RGD:1616514 D RGD:9068941 20220825 MouseDO OMIM:214800 12132429 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1320737 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 12132429 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1320737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure PMID:23708187|PMID:24207121|PMID:25741868|PMID:25783594|PMID:28492532|PMID:29358611 12132429 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:0081325 developmental and epileptic encephalopathy 94 ISO RGD:1320737 D RGD:7240710 20210421 OMIM 12132429 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:0081325 developmental and epileptic encephalopathy 94 ISO RGD:1320737 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 94 PMID:15955779|PMID:15988005|PMID:16199547|PMID:17576681|PMID:22178256|PMID:23020937|PMID:23708187|PMID:24207121|PMID:24614520|PMID:24932903|PMID:25262651|PMID:25326635|PMID:25363768|PMID:25384982|PMID:25418537|PMID:25640679|PMID:25741868|PMID:25783594|PMID:26467025|PMID:26615199|PMID:26754451|PMID:26795593|PMID:27781031|PMID:27824329|PMID:28074849|PMID:28166811|PMID:28191889|PMID:28191890|PMID:28492532|PMID:28554332|PMID:28960266|PMID:29358611|PMID:29720203|PMID:29740950|PMID:29933521|PMID:30525188|PMID:30564305|PMID:30868116|PMID:31031587|PMID:31170314|PMID:31273778|PMID:31332282|PMID:31618753|PMID:31677157|PMID:31785789|PMID:32005694|PMID:32238909|PMID:33004838|PMID:33176815|PMID:33619735|PMID:9326634|PMID:9536098 12132429 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320737 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 12132429 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:10283 prostate cancer ISO RGD:1320737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12132429 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1320737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25384982|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9326634|PMID:9536098 12132429 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1320737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25384982|PMID:25741868|PMID:28492532|PMID:31785789|PMID:33004838|PMID:9326634|PMID:9536098 12132429 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:10907 microcephaly ISO RGD:1320737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 12132429 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:12849 autistic disorder ISO RGD:1320737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:23708187|PMID:24207121|PMID:24614520|PMID:25741868|PMID:25783594|PMID:26754451|PMID:28492532|PMID:31677157 12132429 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:1826 epilepsy ISO RGD:1320737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:28960266 12132429 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:3307 teratoma ISO RGD:1320737 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 12132429 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1320737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611 12132429 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1320737 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15955779|PMID:15988005|PMID:17576681|PMID:23708187|PMID:24207121|PMID:25384982|PMID:25741868|PMID:25783594|PMID:26073591|PMID:26467025|PMID:26615199|PMID:26795593|PMID:28074849|PMID:28191889|PMID:28191890|PMID:28492532|PMID:28554332|PMID:29358611|PMID:30564305|PMID:31273778|PMID:31332282|PMID:31618753|PMID:31677157|PMID:31785789|PMID:33004838|PMID:8232556|PMID:9326634|PMID:9536098|PMID:9565609 12132429 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320737 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12132429 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320737 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12132429 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:9006257 Growth Disorders ISO RGD:1320737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation 12132429 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1320737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:23708187|PMID:24207121|PMID:24614520|PMID:25326635|PMID:25741868|PMID:25783594|PMID:26754451|PMID:28492532|PMID:30525188|PMID:31677157 12132429 CHD2 chromodomain helicase DNA binding protein 2 gene DOID:9008154 SIFRIM-HITZ-WEISS SYNDROME ISO RGD:1320737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sifrim-Hitz-Weiss syndrome 12132488 SDF4 stromal cell derived factor 4 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:731601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12132488 SDF4 stromal cell derived factor 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:731601 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12132488 SDF4 stromal cell derived factor 4 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:731601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12132488 SDF4 stromal cell derived factor 4 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:731601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12132488 SDF4 stromal cell derived factor 4 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:731601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12132488 SDF4 stromal cell derived factor 4 gene DOID:0110994 Joubert syndrome 25 ISO RGD:731601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12132488 SDF4 stromal cell derived factor 4 gene DOID:0111934 immunodeficiency 38 ISO RGD:731601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12132488 SDF4 stromal cell derived factor 4 gene DOID:0111935 immunodeficiency 16 ISO RGD:731601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12132488 SDF4 stromal cell derived factor 4 gene DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 ISO RGD:731601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures PMID:28492532 12132488 SDF4 stromal cell derived factor 4 gene DOID:5419 schizophrenia ISO RGD:731601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 12132488 SDF4 stromal cell derived factor 4 gene DOID:630 genetic disease ISO RGD:731601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12132488 SDF4 stromal cell derived factor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12132488 SDF4 stromal cell derived factor 4 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:731601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12132488 SDF4 stromal cell derived factor 4 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:731601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12132503 RHPN1 rhophilin Rho GTPase binding protein 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1313863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12132503 RHPN1 rhophilin Rho GTPase binding protein 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1313863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12132503 RHPN1 rhophilin Rho GTPase binding protein 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1313863 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12132503 RHPN1 rhophilin Rho GTPase binding protein 1 gene DOID:4621 holoprosencephaly ISO RGD:1313863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12132503 RHPN1 rhophilin Rho GTPase binding protein 1 gene DOID:630 genetic disease ISO RGD:1313863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12132522 EML4 EMAP like 4 gene DOID:3883 Lynch syndrome ISO RGD:1351948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12132522 EML4 EMAP like 4 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1351948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17625570|PMID:21757253|PMID:21767331|PMID:22568572|PMID:22617245|PMID:22986231 12132522 EML4 EMAP like 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1351948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22980554|PMID:22999080 12132522 EML4 EMAP like 4 gene DOID:630 genetic disease ISO RGD:1351948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12132522 EML4 EMAP like 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1351948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22986231|PMID:22999080 12132522 EML4 EMAP like 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12132522 EML4 EMAP like 4 gene DOID:9007502 Brain Neoplasms ISO RGD:1351948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22986231 12132556 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12132556 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:0060673 Peters anomaly ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:28492532 12132556 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:0080610 anterior segment dysgenesis 5 ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 PMID:28492532 12132556 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:0111383 autosomal dominant keratitis ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant keratitis | ClinVar Annotator: match by term: Dominantly inherited keratitis | ClinVar Annotator: match by term: Keratitis, hereditary PMID:28492532 12132556 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:28492532 12132556 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:1059 intellectual disability ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12132556 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:10629 microphthalmia ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar Annotator: match by term: Microphthalmia PMID:28492532 12132556 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:11975 coloboma of optic nerve ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coloboma of optic nerve PMID:25741868 12132556 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:12271 aniridia ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia PMID:28492532 12132556 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:14515 WAGR syndrome ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome PMID:28492532 12132556 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:3764 Denys-Drash syndrome ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Drash syndrome PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28492532 12132556 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:5419 schizophrenia ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12132556 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:630 genetic disease ISO RGD:1352223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12132556 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:9002049 Anophthalmia ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia 12132556 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:9002455 Aniridia 1 ISO RGD:1352223 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aniridia 1 PMID:10234503|PMID:10737978|PMID:11284764|PMID:11309364|PMID:11431688|PMID:12552561|PMID:12731001|PMID:15150775|PMID:16098226|PMID:17630404|PMID:18483559|PMID:22361317|PMID:24138039|PMID:24290376|PMID:25741868|PMID:26661695|PMID:27124303|PMID:27431685|PMID:28231309|PMID:28321846|PMID:28492532|PMID:29618921|PMID:30291432|PMID:8364574 12132556 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:9003088 O'Donnell Pappas Syndrome ISO RGD:1352223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome PMID:10234503|PMID:22361317|PMID:25741868|PMID:28492532|PMID:8364574 12132556 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:9003133 Hypertelorism ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:11309364|PMID:11431688|PMID:12552561|PMID:12731001|PMID:16098226|PMID:25741868|PMID:27431685|PMID:28321846|PMID:28492532|PMID:29618921 12132556 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:9003775 Chromosome 11p Deletion Syndrome ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 11p deletion syndrome PMID:28492532 12132556 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:9003911 Aniridia 2 ISO RGD:1352223 D RGD:7240710 20190327 OMIM 12132556 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:9003911 Aniridia 2 ISO RGD:1352223 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Aniridia 2 PMID:25741868|PMID:26010655|PMID:28492532 12132556 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12132556 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12132572 FNBP4 formin binding protein 4 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1319467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12132572 FNBP4 formin binding protein 4 gene DOID:1059 intellectual disability ISO RGD:1319467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12132572 FNBP4 formin binding protein 4 gene DOID:630 genetic disease ISO RGD:1319467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12132600 ATG2A autophagy related 2A gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12132600 ATG2A autophagy related 2A gene DOID:1059 intellectual disability ISO RGD:1604391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12132600 ATG2A autophagy related 2A gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12132600 ATG2A autophagy related 2A gene DOID:2746 glycogen storage disease V ISO RGD:1604391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12132600 ATG2A autophagy related 2A gene DOID:3070 high grade glioma ISO RGD:1604391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12132600 ATG2A autophagy related 2A gene DOID:5426 primary ovarian insufficiency ISO RGD:1604391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12132600 ATG2A autophagy related 2A gene DOID:630 genetic disease ISO RGD:1604391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12132645 ECSIT ECSIT signaling integrator gene DOID:0050990 episodic ataxia type 2 ISO RGD:1602709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12132645 ECSIT ECSIT signaling integrator gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1602709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12132645 ECSIT ECSIT signaling integrator gene DOID:0111254 glutaric acidemia I ISO RGD:1602709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12132645 ECSIT ECSIT signaling integrator gene DOID:3413 alpha-mannosidosis ISO RGD:1602709 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12132645 ECSIT ECSIT signaling integrator gene DOID:630 genetic disease ISO RGD:1602709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12132661 CDC25B cell division cycle 25B gene DOID:0080365 endometrial hyperplasia ISO RGD:1604653 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:14559803|REF_RGD_ID:4105451 12132661 CDC25B cell division cycle 25B gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1604653 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12132661 CDC25B cell division cycle 25B gene DOID:10283 prostate cancer ISO RGD:1604653 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:12569365|REF_RGD_ID:4105454 12132661 CDC25B cell division cycle 25B gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1604653 D RGD:9068941 20200609 RGD PMID:19383904|REF_RGD_ID:2739695 12132661 CDC25B cell division cycle 25B gene DOID:1380 endometrial cancer ISO RGD:1604653 D RGD:9068941 20200609 RGD PMID:14559803|REF_RGD_ID:4105451 12132661 CDC25B cell division cycle 25B gene DOID:2101 vulva squamous cell carcinoma disease_progression ISO RGD:1604653 D RGD:9068941 20200609 RGD protein:increased expression:vulva PMID:20500813|REF_RGD_ID:2729590 12132661 CDC25B cell division cycle 25B gene DOID:3459 breast carcinoma disease_progression ISO RGD:1604653 D RGD:9068941 20200609 RGD PMID:15550849|REF_RGD_ID:4105449 12132661 CDC25B cell division cycle 25B gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1604653 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12132661 CDC25B cell division cycle 25B gene DOID:630 genetic disease ISO RGD:1604653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12132661 CDC25B cell division cycle 25B gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1604653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 12132661 CDC25B cell division cycle 25B gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12132661 CDC25B cell division cycle 25B gene DOID:9775 diastolic heart failure ISO RGD:1604653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12132691 ACVR1B activin A receptor type 1B gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:1349804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transposition of the great arteries, dextro-looped 12132691 ACVR1B activin A receptor type 1B gene DOID:0080600 COVID-19 ISO RGD:1349804 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12132691 ACVR1B activin A receptor type 1B gene DOID:10534 stomach cancer ISO RGD:1349804 D RGD:9068941 20220324 RGD PMID:32066878|REF_RGD_ID:151665490 12132691 ACVR1B activin A receptor type 1B gene DOID:10534 stomach cancer disease_progression ISO RGD:1349804 D RGD:9068941 20220324 RGD PMID:32066878|REF_RGD_ID:151665490 12132691 ACVR1B activin A receptor type 1B gene DOID:1790 malignant mesothelioma ameliorates ISO RGD:1349804 D RGD:9068941 20220324 RGD PMID:30061637|REF_RGD_ID:151665492 12132691 ACVR1B activin A receptor type 1B gene DOID:1793 pancreatic cancer ISO RGD:1349804 D RGD:9068941 20200609 RGD PMID:11248065|REF_RGD_ID:1598735 12132691 ACVR1B activin A receptor type 1B gene DOID:1793 pancreatic cancer ISO RGD:1349804 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:9714055|REF_RGD_ID:2317217 12132691 ACVR1B activin A receptor type 1B gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1349804 D RGD:9068941 20220324 RGD DNA:SNP:intron:rs12809597(human) PMID:22586632|REF_RGD_ID:151665491 12132691 ACVR1B activin A receptor type 1B gene DOID:4905 pancreatic carcinoma ISO RGD:1349804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:11248065 12132691 ACVR1B activin A receptor type 1B gene DOID:5409 lung small cell carcinoma ISO RGD:1349804 D RGD:9068941 20220324 RGD PMID:33880365|REF_RGD_ID:151665493 12132691 ACVR1B activin A receptor type 1B gene DOID:630 genetic disease ISO RGD:1349804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12132691 ACVR1B activin A receptor type 1B gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:735207 D RGD:9068941 20220324 RGD PMID:9013782|REF_RGD_ID:151665480 12132691 ACVR1B activin A receptor type 1B gene DOID:9007102 Myocardial Ischemia ISO RGD:735207 D RGD:9068941 20200609 RGD PMID:14993131|REF_RGD_ID:1580888 12132691 ACVR1B activin A receptor type 1B gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:1349804 D RGD:9068941 20220324 RGD associated with stomach cancer;mRNA:increased expression:stomach: PMID:32066878|REF_RGD_ID:151665490 12132711 PKD2L1 polycystin 2 like 1, transient receptor potential cation channel gene DOID:10283 prostate cancer ISO RGD:1314779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12132711 PKD2L1 polycystin 2 like 1, transient receptor potential cation channel gene DOID:630 genetic disease ISO RGD:1314779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0050889 non-syndromic intellectual disability ISO RGD:731547 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Non-syndromic intellectual disability PMID:30504930|PMID:35675825 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0060001 withdrawal disorder ISO RGD:731547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11404432|PMID:12511956 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0060041 autism spectrum disorder ISO RGD:731547 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930|PMID:35675825 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0060043 sexual health disorder ISO RGD:731547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19295509 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0081235 autosomal recessive intellectual developmental disorder 76 ISO RGD:731547 D RGD:7240710 20220720 OMIM 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0081235 autosomal recessive intellectual developmental disorder 76 ISO RGD:731547 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 76 PMID:35675825 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:1059 intellectual disability ISO RGD:731547 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23033978|PMID:25363760|PMID:25741868|PMID:28628100|PMID:35675825 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:11832 visual epilepsy ISO RGD:621531 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:19666089|REF_RGD_ID:4107726 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:12849 autistic disorder ISO RGD:731547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11706102 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:13413 hepatic encephalopathy ISO RGD:621531 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus, synaptosome (rat) PMID:19450629|REF_RGD_ID:4108489 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:1824 status epilepticus ISO RGD:621531 D RGD:9068941 20200609 RGD PMID:25457025|REF_RGD_ID:13792697 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:1824 status epilepticus ISO RGD:621531 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus (rat) PMID:19914343|REF_RGD_ID:4107719 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:1826 epilepsy ISO RGD:621531 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:19154779|REF_RGD_ID:2326034 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:2560 morphine dependence ISO RGD:731547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11404432 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:4481 allergic rhinitis ISO RGD:731547 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:34624383 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:5418 schizoaffective disorder ISO RGD:735685 D RGD:9068941 20220825 MouseDO 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:630 genetic disease ISO RGD:731547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:8927 learning disability ISO RGD:731547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16495937 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:621531 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortical neuron (rat) PMID:20398734|REF_RGD_ID:4107070 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9002362 Hyperkinesis ISO RGD:731547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18171924|PMID:19036973 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9003736 Central Nervous System Viral Diseases ISO RGD:621531 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:19660546|REF_RGD_ID:2325963 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9004009 Reperfusion Injury ISO RGD:621531 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus (rat) PMID:20408958|REF_RGD_ID:4107069 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9004042 Olfaction Disorders ISO RGD:731547 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:34624383 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731547 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28628100 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14684464|PMID:15764012|PMID:16495937|PMID:18430032|PMID:18486119 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9006024 Hypotension ISO RGD:731547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18639534 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9007677 Autosomal Dominant Intellectual Developmental Disorder 67 ISO RGD:731547 D RGD:7240710 20220720 OMIM 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9007677 Autosomal Dominant Intellectual Developmental Disorder 67 ISO RGD:731547 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 67 PMID:23033978|PMID:25363760|PMID:25741868|PMID:28628100|PMID:30504930|PMID:35675825 12132734 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:621531 D RGD:9068941 20200609 RGD PMID:25457025|REF_RGD_ID:13792697 12132756 C6H7orf50 chromosome 6 C7orf50 homolog gene DOID:630 genetic disease ISO RGD:1603950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12132798 C2H5orf46 chromosome 2 C5orf46 homolog gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605197 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12132798 C2H5orf46 chromosome 2 C5orf46 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12132798 C2H5orf46 chromosome 2 C5orf46 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605197 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12132806 PASK PAS domain containing serine/threonine kinase gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1314594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12132806 PASK PAS domain containing serine/threonine kinase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1314594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12132806 PASK PAS domain containing serine/threonine kinase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1314594 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12132806 PASK PAS domain containing serine/threonine kinase gene DOID:1059 intellectual disability ISO RGD:1314594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12132806 PASK PAS domain containing serine/threonine kinase gene DOID:12849 autistic disorder ISO RGD:1314594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19365831 12132806 PASK PAS domain containing serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1314594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12132806 PASK PAS domain containing serine/threonine kinase gene DOID:784 chronic kidney disease ISO RGD:1314594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 12132806 PASK PAS domain containing serine/threonine kinase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1314594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12132843 IL20RB interleukin 20 receptor subunit beta gene DOID:14115 toxic shock syndrome ISO RGD:1623828 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple PMID:18246602|REF_RGD_ID:5037232 12132843 IL20RB interleukin 20 receptor subunit beta gene DOID:630 genetic disease ISO RGD:1349896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12132843 IL20RB interleukin 20 receptor subunit beta gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1349896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12132858 TSPAN2 tetraspanin 2 gene DOID:0080690 RASopathy ISO RGD:1344307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12132858 TSPAN2 tetraspanin 2 gene DOID:630 genetic disease ISO RGD:1344307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12132858 TSPAN2 tetraspanin 2 gene DOID:9007096 Stroke ISO RGD:1344307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 12132872 PDE4A phosphodiesterase 4A gene DOID:11077 brucellosis ISO RGD:3279 D RGD:9068941 20200609 RGD mRNA:decreased expression:spleen PMID:17397885|REF_RGD_ID:2302429 12132872 PDE4A phosphodiesterase 4A gene DOID:11832 visual epilepsy ISO RGD:3279 D RGD:9068941 20200609 RGD PMID:16190900|REF_RGD_ID:2302430 12132872 PDE4A phosphodiesterase 4A gene DOID:12849 autistic disorder ISO RGD:737080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18090323 12132872 PDE4A phosphodiesterase 4A gene DOID:630 genetic disease ISO RGD:737080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12132918 CLEC4A C-type lectin domain family 4, member A gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1352867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12132918 CLEC4A C-type lectin domain family 4, member A gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1352867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12132918 CLEC4A C-type lectin domain family 4, member A gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1352867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12132918 CLEC4A C-type lectin domain family 4, member A gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1352867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12132918 CLEC4A C-type lectin domain family 4, member A gene DOID:0111621 Temtamy syndrome ISO RGD:1352867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12132918 CLEC4A C-type lectin domain family 4, member A gene DOID:1205 allergic disease ISO RGD:1352867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23624239 12132918 CLEC4A C-type lectin domain family 4, member A gene DOID:630 genetic disease ISO RGD:1352867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12132918 CLEC4A C-type lectin domain family 4, member A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12132918 CLEC4A C-type lectin domain family 4, member A gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1352867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12132954 NIFK nucleolar protein interacting with the FHA domain of MKI67 gene DOID:630 genetic disease ISO RGD:1345364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12132965 CNIH1 cornichon family AMPA receptor auxiliary protein 1 gene DOID:0090043 dystonia 5 ISO RGD:1323800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:17111153|PMID:19332422|PMID:19491146|PMID:25557619|PMID:28492532|PMID:9667588 12132965 CNIH1 cornichon family AMPA receptor auxiliary protein 1 gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:1323800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:18252212|PMID:21340693|PMID:28492532 12133096 LGI3 leucine rich repeat LGI family member 3 gene DOID:630 genetic disease ISO RGD:1322345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12133096 LGI3 leucine rich repeat LGI family member 3 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1322345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12133096 LGI3 leucine rich repeat LGI family member 3 gene DOID:9008164 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS ISO RGD:1322345 D RGD:7240710 20221214 OMIM 12133096 LGI3 leucine rich repeat LGI family member 3 gene DOID:9008164 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS ISO RGD:1322345 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects | ClinVar Annotator: match by term: Peripheral nerve hyperexcitability syndrome PMID:25741868|PMID:29269699|PMID:35948005 12133108 ROBO2 roundabout guidance receptor 2 gene DOID:0080205 CAKUT ISO RGD:736256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:17357069|PMID:18235093|PMID:22995991|PMID:23536131|PMID:24429398|PMID:25741868|PMID:27657687|PMID:28492532|PMID:30143558|PMID:30586318 12133108 ROBO2 roundabout guidance receptor 2 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:62234 D RGD:9068941 20230330 RGD PMID:25691540|REF_RGD_ID:243048427 12133108 ROBO2 roundabout guidance receptor 2 gene DOID:12849 autistic disorder ISO RGD:736256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18270976 12133108 ROBO2 roundabout guidance receptor 2 gene DOID:1657 ventricular septal defect ISO RGD:62234 D RGD:9068941 20230330 RGD PMID:25691540|REF_RGD_ID:243048427 12133108 ROBO2 roundabout guidance receptor 2 gene DOID:224 transient cerebral ischemia ISO RGD:620167 D RGD:9068941 20230330 RGD protein:increased expression:brain, astrocyte PMID:27686659|REF_RGD_ID:243048429 12133108 ROBO2 roundabout guidance receptor 2 gene DOID:4947 cholangiocarcinoma ISO RGD:736256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 12133108 ROBO2 roundabout guidance receptor 2 gene DOID:630 genetic disease ISO RGD:736256 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:34059960 12133108 ROBO2 roundabout guidance receptor 2 gene DOID:9000998 Brain Injuries ISO RGD:620167 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:16262652|REF_RGD_ID:2316136 12133108 ROBO2 roundabout guidance receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12133108 ROBO2 roundabout guidance receptor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 12133108 ROBO2 roundabout guidance receptor 2 gene DOID:9003155 Parasitic Liver Diseases ISO RGD:736256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 12133108 ROBO2 roundabout guidance receptor 2 gene DOID:9003734 Vesicoureteral Reflux 2 ISO RGD:736256 D RGD:7240710 20180130 OMIM 12133108 ROBO2 roundabout guidance receptor 2 gene DOID:9003734 Vesicoureteral Reflux 2 ISO RGD:736256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Vesicoureteral reflux 2 PMID:16199547|PMID:17357069|PMID:18235093|PMID:22558067|PMID:22995991|PMID:23536131|PMID:25741868|PMID:26489027|PMID:27657687|PMID:28492532 12133108 ROBO2 roundabout guidance receptor 2 gene DOID:9620 vesicoureteral reflux ISO RGD:736256 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Vesicoureteral reflux PMID:28492532 12133188 RIGI RNA sensor RIG-I gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1319812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12133188 RIGI RNA sensor RIG-I gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1319812 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12133188 RIGI RNA sensor RIG-I gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1319812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12133188 RIGI RNA sensor RIG-I gene DOID:1883 hepatitis C ISO RGD:1319812 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20170495 12133188 RIGI RNA sensor RIG-I gene DOID:2365 West Nile encephalitis ISO RGD:1319813 D RGD:9068941 20210423 RGD mRNA:increased expression:brain PMID:24173226|REF_RGD_ID:126781836 12133188 RIGI RNA sensor RIG-I gene DOID:630 genetic disease ISO RGD:1319812 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12133188 RIGI RNA sensor RIG-I gene DOID:8893 psoriasis ISO RGD:1319812 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143594 12133188 RIGI RNA sensor RIG-I gene DOID:9000371 influenza A ISO RGD:1319813 D RGD:9068941 20210122 RGD mRNA:increased expression:nasal cavity mucosa (mouse) PMID:25751630|REF_RGD_ID:40925925 12133188 RIGI RNA sensor RIG-I gene DOID:9000918 Disease Progression ISO RGD:1319812 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20170495 12133188 RIGI RNA sensor RIG-I gene DOID:9001488 Human Influenza ISO RGD:1319812 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12133188 RIGI RNA sensor RIG-I gene DOID:9001499 Orthomyxoviridae Infections ISO RGD:1319812 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:25780039 12133188 RIGI RNA sensor RIG-I gene DOID:9002133 Singleton-Merten Syndrome 2 ISO RGD:1319812 D RGD:7240710 20180130 OMIM 12133188 RIGI RNA sensor RIG-I gene DOID:9002133 Singleton-Merten Syndrome 2 ISO RGD:1319812 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Singleton-Merten syndrome 2 PMID:25620203|PMID:25741868|PMID:28492532 12133188 RIGI RNA sensor RIG-I gene DOID:9562 primary ciliary dyskinesia ISO RGD:1319812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12133188 RIGI RNA sensor RIG-I gene DOID:9870 galactosemia ISO RGD:1319812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:0050855 renal fibrosis ISO RGD:68595 D RGD:9068941 20200609 RGD PMID:22299048|REF_RGD_ID:11041600 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:0080322 polycystic kidney disease ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:17322369|REF_RGD_ID:10395372 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:0080339 familial erythrocytosis 4 ISO RGD:68594 D RGD:7240710 20180130 OMIM 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:0080339 familial erythrocytosis 4 ISO RGD:68594 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Erythrocytosis, familial, 4 PMID:18184961|PMID:18378852|PMID:18508787|PMID:18650473|PMID:19208626|PMID:21389259|PMID:22367913|PMID:23716564|PMID:25741868|PMID:27292716|PMID:27651169|PMID:28492532|PMID:29790589 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:10591 pre-eclampsia ISO RGD:68594 D RGD:9068941 20200609 RGD PMID:11159352|REF_RGD_ID:1580974 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:10780 primary polycythemia ISO RGD:68594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial erythrocytosis 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:11650 bronchopulmonary dysplasia treatment ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:23065129|REF_RGD_ID:10395385 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:12450 pancytopenia ISO RGD:68595 D RGD:9068941 20200609 RGD PMID:12750163|REF_RGD_ID:11041567 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:68595 D RGD:9068941 20220825 MouseDO OMIM:267450 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:14175 von Hippel-Lindau disease ISO RGD:68594 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:22299048|REF_RGD_ID:11041600 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:14227 azoospermia ISO RGD:68595 D RGD:9068941 20200609 RGD PMID:14608355|REF_RGD_ID:734934 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:3021 acute kidney failure treatment ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:16762988|REF_RGD_ID:10395386 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:3307 teratoma ISO RGD:68594 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Teratoma 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:3669 intermittent claudication treatment ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:21771896|REF_RGD_ID:10395378 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:3883 Lynch syndrome ISO RGD:68594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:68594 D RGD:9068941 20200609 RGD PMID:21812995|REF_RGD_ID:10395382 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:4195 hyperglycemia ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:17914354|REF_RGD_ID:10395377 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:12750296|REF_RGD_ID:10395373 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:68594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21131975 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:5679 retinal disease ISO RGD:68595 D RGD:9068941 20200609 RGD PMID:14608355|REF_RGD_ID:734934 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:5844 myocardial infarction ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:15247145|PMID:18484163|REF_RGD_ID:1580977|REF_RGD_ID:5147886 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:630 genetic disease ISO RGD:68594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:6432 pulmonary hypertension ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:16215633|REF_RGD_ID:10395375 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:6432 pulmonary hypertension ISO RGD:68594 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: 2097G>A,p.G537R(human) PMID:18650473|REF_RGD_ID:11041573 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:68594 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26735578 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:7148 rheumatoid arthritis ISO RGD:68594 D RGD:9068941 20200609 RGD protein:increased expression:layer of synovial tissue, stromal cell PMID:12823854|REF_RGD_ID:10395366 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:8398 osteoarthritis ISO RGD:68594 D RGD:9068941 20200609 RGD mRNA:increased expression:cartilage PMID:20495569|REF_RGD_ID:10395365 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:8398 osteoarthritis ISO RGD:68594 D RGD:9068941 20200609 RGD protein:increased expression:layer of synovial tissue, stromal cell PMID:12823854|REF_RGD_ID:10395366 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:8398 osteoarthritis ISO RGD:68595 D RGD:9068941 20200609 RGD PMID:20495569|PMID:21869830|REF_RGD_ID:10395364|REF_RGD_ID:10395365 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:8432 polycythemia ISO RGD:68594 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: 2097G>A,p.G537R(human) PMID:18650473|REF_RGD_ID:11041573 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:8432 polycythemia susceptibility ISO RGD:68594 D RGD:9068941 20200609 RGD DNA:polymorphisms,haplotype: :rs13419896, rs12619696(human) PMID:25792003|REF_RGD_ID:11041568 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:8893 psoriasis ISO RGD:68594 D RGD:9068941 20200609 RGD PMID:17495954|REF_RGD_ID:10395383 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:9000918 Disease Progression ISO RGD:68594 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26735578 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:9000998 Brain Injuries treatment ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:22960363|REF_RGD_ID:10395371 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:68404 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17914354|REF_RGD_ID:10395377 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:68404 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:17967803|REF_RGD_ID:10395374 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:68594 D RGD:9068941 20200609 RGD DNA:SNP:5' utr: (rs17039192) (human) PMID:20495570|REF_RGD_ID:10395368 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:9002331 Knee Osteoarthritis no_association ISO RGD:68594 D RGD:9068941 20200609 RGD DNA:SNP:5' utr: (rs17039192) (human) PMID:22247019|REF_RGD_ID:10395367 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:9003936 Cardiomegaly ISO RGD:68595 D RGD:9068941 20200609 RGD PMID:14608355|REF_RGD_ID:734934 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:68594 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26735578|PMID:30090327 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:9004814 Chromosome Aberrations ISO RGD:68594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23333640 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:68595 D RGD:9068941 20200609 RGD PMID:14608355|REF_RGD_ID:734934 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:9005600 Infarction ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:12911537|REF_RGD_ID:10395384 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:9005725 Iron Overload treatment ISO RGD:68595 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia; PMID:24282296|REF_RGD_ID:11041571 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:23603807|REF_RGD_ID:10395381 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:9007461 Chronic Lung Allograft Dysfunction ISO RGD:68404 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:22305384|REF_RGD_ID:10395369 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:68594 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:23333640|PMID:26735578|PMID:30090327 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:9007702 Carcinogenesis ISO RGD:68594 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26735578 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:17914354|REF_RGD_ID:10395377 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:9452 fatty liver disease ISO RGD:68595 D RGD:9068941 20200609 RGD PMID:14608355|REF_RGD_ID:734934 12133234 EPAS1 endothelial PAS domain protein 1 gene DOID:9498 pulmonary eosinophilia ISO RGD:68595 D RGD:9068941 20200609 RGD PMID:24218148|REF_RGD_ID:11041569 12133258 HSD17B12 hydroxysteroid 17-beta dehydrogenase 12 gene DOID:1059 intellectual disability ISO RGD:1346748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12133258 HSD17B12 hydroxysteroid 17-beta dehydrogenase 12 gene DOID:630 genetic disease ISO RGD:1346748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12133273 NME6 NME/NM23 nucleoside diphosphate kinase 6 gene DOID:630 genetic disease ISO RGD:1604057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12133273 NME6 NME/NM23 nucleoside diphosphate kinase 6 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1604057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12133286 HAUS8 HAUS augmin like complex subunit 8 gene DOID:630 genetic disease ISO RGD:1604254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12133301 NBEA neurobeachin gene DOID:0060041 autism spectrum disorder ISO RGD:1323716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12133301 NBEA neurobeachin gene DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome ISO RGD:1323716 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome PMID:25741868 12133301 NBEA neurobeachin gene DOID:0112081 nuclear type mitochondrial complex I deficiency 8 ISO RGD:1323716 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 PMID:25741868 12133301 NBEA neurobeachin gene DOID:10534 stomach cancer severity ISO RGD:1323716 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 12133301 NBEA neurobeachin gene DOID:1059 intellectual disability ISO RGD:1323716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12133301 NBEA neurobeachin gene DOID:12849 autistic disorder ISO RGD:1323716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:21681106|PMID:30208311 12133301 NBEA neurobeachin gene DOID:1826 epilepsy ISO RGD:1323716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868 12133301 NBEA neurobeachin gene DOID:2213 hemorrhagic disease ISO RGD:1323716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 12133301 NBEA neurobeachin gene DOID:630 genetic disease ISO RGD:1323716 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12133301 NBEA neurobeachin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12133301 NBEA neurobeachin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12133301 NBEA neurobeachin gene DOID:9004635 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY ISO RGD:1323716 D RGD:7240710 20210217 OMIM 12133301 NBEA neurobeachin gene DOID:9004635 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY ISO RGD:1323716 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: NBEA-related complex neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without early-onset generalized epilepsy PMID:25741868|PMID:28492532|PMID:30269351|PMID:34412939 12133301 NBEA neurobeachin gene DOID:9008086 Developmental Disabilities ISO RGD:1323716 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12133301 NBEA neurobeachin gene DOID:9008126 Cerebellar, Ocular, Craniofacial, and Genital Syndrome ISO RGD:1323716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar, ocular, craniofacial, and genital syndrome PMID:23374822|PMID:27075597|PMID:27103078|PMID:30487245 12133301 NBEA neurobeachin gene DOID:9008582 Developmental Disease ISO RGD:1323716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12133381 SMTN smoothelin gene DOID:0080600 COVID-19 ISO RGD:1320987 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12133381 SMTN smoothelin gene DOID:630 genetic disease ISO RGD:1320987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12133417 CCNG2 cyclin G2 gene DOID:11934 head and neck cancer ISO RGD:1312769 D RGD:9068941 20220303 RGD mRNA:decreased expression:head and neck (human) PMID:27982046|REF_RGD_ID:151361200 12133417 CCNG2 cyclin G2 gene DOID:1993 rectum cancer ISO RGD:1312769 D RGD:9068941 20220303 RGD mRNA:decreased expression:colon,rectum (human) PMID:27982046|REF_RGD_ID:151361200 12133417 CCNG2 cyclin G2 gene DOID:219 colon cancer ISO RGD:1312769 D RGD:9068941 20220303 RGD mRNA:decreased expression:colon,rectum (human) PMID:27982046|REF_RGD_ID:151361200 12133417 CCNG2 cyclin G2 gene DOID:630 genetic disease ISO RGD:1312769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12133417 CCNG2 cyclin G2 gene DOID:684 hepatocellular carcinoma ISO RGD:1312770 D RGD:9068941 20220303 RGD PMID:27982046|REF_RGD_ID:151361200 12133417 CCNG2 cyclin G2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1312769 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12133417 CCNG2 cyclin G2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1312770 D RGD:9068941 20220303 RGD PMID:27982046|REF_RGD_ID:151361200 12133429 RPL17 ribosomal protein L17 gene DOID:1059 intellectual disability ISO RGD:1347180 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12133429 RPL17 ribosomal protein L17 gene DOID:630 genetic disease ISO RGD:1347180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12133429 RPL17 ribosomal protein L17 gene DOID:9007102 Myocardial Ischemia ISO RGD:1347180 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12133442 PSME2 proteasome activator subunit 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:733724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12133442 PSME2 proteasome activator subunit 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:733724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12133442 PSME2 proteasome activator subunit 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12133442 PSME2 proteasome activator subunit 2 gene DOID:630 genetic disease ISO RGD:733724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12133442 PSME2 proteasome activator subunit 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:733724 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12133442 PSME2 proteasome activator subunit 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12133442 PSME2 proteasome activator subunit 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:733724 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12133457 TTLL5 tubulin tyrosine ligase like 5 gene DOID:0050572 cone-rod dystrophy ISO RGD:1350630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868 12133457 TTLL5 tubulin tyrosine ligase like 5 gene DOID:0111025 cone-rod dystrophy 19 ISO RGD:1350630 D RGD:7240710 20180130 OMIM 12133457 TTLL5 tubulin tyrosine ligase like 5 gene DOID:0111025 cone-rod dystrophy 19 ISO RGD:1350630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 19 PMID:24791901|PMID:25741868|PMID:27162334|PMID:28173158|PMID:28492532 12133457 TTLL5 tubulin tyrosine ligase like 5 gene DOID:10584 retinitis pigmentosa ISO RGD:1350630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868 12133457 TTLL5 tubulin tyrosine ligase like 5 gene DOID:1059 intellectual disability ISO RGD:1350630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12133457 TTLL5 tubulin tyrosine ligase like 5 gene DOID:630 genetic disease ISO RGD:1350630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12133457 TTLL5 tubulin tyrosine ligase like 5 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1350630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12133457 TTLL5 tubulin tyrosine ligase like 5 gene DOID:8501 fundus dystrophy ISO RGD:1350630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24791901|PMID:25741868|PMID:27162334|PMID:28173158|PMID:28492532 12133457 TTLL5 tubulin tyrosine ligase like 5 gene DOID:980 choroidal sclerosis ISO RGD:1350630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central areolar choroidal dystrophy PMID:25741868 12133534 ABCA6 ATP binding cassette subfamily A member 6 gene DOID:3042 allergic contact dermatitis ISO RGD:1319094 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 12133534 ABCA6 ATP binding cassette subfamily A member 6 gene DOID:630 genetic disease ISO RGD:1319094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12133534 ABCA6 ATP binding cassette subfamily A member 6 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319094 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12133580 ASB9 ankyrin repeat and SOCS box containing 9 gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1344669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 12133580 ASB9 ankyrin repeat and SOCS box containing 9 gene DOID:12849 autistic disorder ISO RGD:1344669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12133580 ASB9 ankyrin repeat and SOCS box containing 9 gene DOID:13636 Fanconi anemia ISO RGD:1344669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 12133580 ASB9 ankyrin repeat and SOCS box containing 9 gene DOID:630 genetic disease ISO RGD:1344669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12133580 ASB9 ankyrin repeat and SOCS box containing 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12133600 LOC480926 melanoma-associated antigen D4 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1604588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12133600 LOC480926 melanoma-associated antigen D4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12133600 LOC480926 melanoma-associated antigen D4 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1604588 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 12133600 LOC480926 melanoma-associated antigen D4 gene DOID:12849 autistic disorder ISO RGD:1604588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12133622 DLA-79 MHC class Ib gene DOID:11372 megacolon ISO RGD:1345133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12133622 DLA-79 MHC class Ib gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1595868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12133661 FRMD4B FERM domain containing 4B gene DOID:0060224 atrial fibrillation ISO RGD:1348430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12133661 FRMD4B FERM domain containing 4B gene DOID:630 genetic disease ISO RGD:1348430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12133706 TNPO2 transportin 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1321214 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12133706 TNPO2 transportin 2 gene DOID:0081262 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies ISO RGD:1321214 D RGD:7240710 20211215 OMIM 12133706 TNPO2 transportin 2 gene DOID:0081262 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies ISO RGD:1321214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | ClinVar Annotator: match by term: TNPO2-related condition PMID:25741868|PMID:34314705 12133706 TNPO2 transportin 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1321214 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12133706 TNPO2 transportin 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1321214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12133706 TNPO2 transportin 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1321214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12133706 TNPO2 transportin 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1321214 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12133706 TNPO2 transportin 2 gene DOID:630 genetic disease ISO RGD:1321214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12133742 GADD45B growth arrest and DNA damage inducible beta gene DOID:0080600 COVID-19 ISO RGD:1319220 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12133742 GADD45B growth arrest and DNA damage inducible beta gene DOID:0080600 COVID-19 ISO RGD:1319220 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12133742 GADD45B growth arrest and DNA damage inducible beta gene DOID:37 skin disease ISO RGD:1319220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12133742 GADD45B growth arrest and DNA damage inducible beta gene DOID:630 genetic disease ISO RGD:1319220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12133742 GADD45B growth arrest and DNA damage inducible beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12133742 GADD45B growth arrest and DNA damage inducible beta gene DOID:9007964 Arsenic Poisoning ISO RGD:1319220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12133751 ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif 20 gene DOID:1909 melanoma ISO RGD:1317084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21559390 12133751 ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif 20 gene DOID:630 genetic disease ISO RGD:1317084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12133751 ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif 20 gene DOID:9296 cleft lip IAGP D RGD:12801476 20230510 OMIA Cleft lip with or without cleft palate, ADAMTS20-related PMID:13875838|PMID:25798845|PMID:28738009|PMID:34838248|PMID:28887848 12133795 SESN2 sestrin 2 gene DOID:630 genetic disease ISO RGD:1346813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12133795 SESN2 sestrin 2 gene DOID:9005369 Hepatomegaly ISO RGD:1346813 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28209544 12133795 SESN2 sestrin 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346813 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28209544 12133795 SESN2 sestrin 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1346813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31054940 12133809 GALK2 galactokinase 2 gene DOID:2717 Bloom syndrome ISO RGD:1318611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12133809 GALK2 galactokinase 2 gene DOID:630 genetic disease ISO RGD:1318611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12133809 GALK2 galactokinase 2 gene DOID:9256 colorectal cancer ISO RGD:1318611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12133831 USF1 upstream transcription factor 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:733910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12133831 USF1 upstream transcription factor 1 gene DOID:1287 cardiovascular system disease ISO RGD:733910 D RGD:9068941 20200609 RGD PMID:16699592|REF_RGD_ID:1580805 12133831 USF1 upstream transcription factor 1 gene DOID:13809 familial combined hyperlipidemia ISO RGD:733910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to PMID:14991056|PMID:16076849 12133831 USF1 upstream transcription factor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:733910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12133831 USF1 upstream transcription factor 1 gene DOID:630 genetic disease ISO RGD:733910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12133831 USF1 upstream transcription factor 1 gene DOID:9005097 Hyperlipidemia, Combined, 1 susceptibility ISO RGD:733910 D RGD:7240710 20190502 OMIM 12133831 USF1 upstream transcription factor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12133831 USF1 upstream transcription factor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733910 D RGD:9068941 20200609 RGD DNA:SNP: :rs2073658 (human) PMID:18445538|REF_RGD_ID:2313793 12133831 USF1 upstream transcription factor 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:733910 D RGD:9068941 20200609 RGD DNA:SNPs:intron, 3' utr:multiple (human) PMID:16186412|REF_RGD_ID:2313794 12133831 USF1 upstream transcription factor 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:733910 D RGD:9068941 20200609 RGD DNA:SNP: :rs3737787 (human) PMID:18593823|REF_RGD_ID:2313792 12133852 DTHD1 death domain containing 1 gene DOID:630 genetic disease ISO RGD:3103432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12133852 DTHD1 death domain containing 1 gene DOID:8501 fundus dystrophy ISO RGD:3103432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 12133852 DTHD1 death domain containing 1 gene DOID:9884 muscular dystrophy ISO RGD:3103432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:23105016|PMID:28492532 12133875 IRF2BP2 interferon regulatory factor 2 binding protein 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1603839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25583766 12133875 IRF2BP2 interferon regulatory factor 2 binding protein 2 gene DOID:0060706 X-linked lymphoproliferative syndrome 2 ISO RGD:1603839 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked PMID:25741868|PMID:28492532 12133875 IRF2BP2 interferon regulatory factor 2 binding protein 2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1603839 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:25741868 12133875 IRF2BP2 interferon regulatory factor 2 binding protein 2 gene DOID:0081156 common variable immunodeficiency 14 ISO RGD:1603839 D RGD:7240710 20190315 OMIM 12133875 IRF2BP2 interferon regulatory factor 2 binding protein 2 gene DOID:0081156 common variable immunodeficiency 14 ISO RGD:1603839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 PMID:24033266|PMID:25741868|PMID:27016798|PMID:28492532 12133875 IRF2BP2 interferon regulatory factor 2 binding protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1603839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12133875 IRF2BP2 interferon regulatory factor 2 binding protein 2 gene DOID:630 genetic disease ISO RGD:1603839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12133875 IRF2BP2 interferon regulatory factor 2 binding protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12133884 GRPEL2 GrpE like 2, mitochondrial gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1342740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12133884 GRPEL2 GrpE like 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1342740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12133884 GRPEL2 GrpE like 2, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12133884 GRPEL2 GrpE like 2, mitochondrial gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1342740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12133892 MMP25 matrix metallopeptidase 25 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1317990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12133892 MMP25 matrix metallopeptidase 25 gene DOID:1826 epilepsy ISO RGD:1317990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12133892 MMP25 matrix metallopeptidase 25 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1317990 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12133892 MMP25 matrix metallopeptidase 25 gene DOID:630 genetic disease ISO RGD:1317990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12133906 F3 coagulation factor III, tissue factor gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:10946084|REF_RGD_ID:11060143 12133906 F3 coagulation factor III, tissue factor gene DOID:0060318 acute promyelocytic leukemia ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16206674 12133906 F3 coagulation factor III, tissue factor gene DOID:0060318 acute promyelocytic leukemia ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:10726043|REF_RGD_ID:11340216 12133906 F3 coagulation factor III, tissue factor gene DOID:0060903 thrombosis ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11858183|PMID:25339356 12133906 F3 coagulation factor III, tissue factor gene DOID:0060903 thrombosis ISO RGD:737354 D RGD:9068941 20200609 RGD associated with Antiphospholipid Syndrome PMID:9153543|REF_RGD_ID:11340222 12133906 F3 coagulation factor III, tissue factor gene DOID:0070004 myeloid neoplasm treatment ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:16959024|REF_RGD_ID:11340218 12133906 F3 coagulation factor III, tissue factor gene DOID:0080600 COVID-19 severity ISO RGD:737354 D RGD:9068941 20200618 RGD PMID:32198776|REF_RGD_ID:30296673 12133906 F3 coagulation factor III, tissue factor gene DOID:0080600 COVID-19 severity ISO RGD:737354 D RGD:9068941 20200813 RGD DNA:SNP: : (rs72729504) (human) PMID:32747830|REF_RGD_ID:38500238 12133906 F3 coagulation factor III, tissue factor gene DOID:0080630 B-lymphoblastic leukemia/lymphoma treatment ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:19874310|REF_RGD_ID:11341694 12133906 F3 coagulation factor III, tissue factor gene DOID:0081267 graft-versus-host disease treatment ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:20037809|REF_RGD_ID:11340209 12133906 F3 coagulation factor III, tissue factor gene DOID:0111144 preterm premature rupture of the membranes ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19012190|REF_RGD_ID:11340215 12133906 F3 coagulation factor III, tissue factor gene DOID:10591 pre-eclampsia ISO RGD:737354 D RGD:9068941 20200609 RGD associated with Fetal Death;protein:increased expression:plasma PMID:19736615|REF_RGD_ID:11340220 12133906 F3 coagulation factor III, tissue factor gene DOID:10763 hypertension treatment ISO RGD:2587 D RGD:9068941 20200609 RGD PMID:21423288|REF_RGD_ID:11341709 12133906 F3 coagulation factor III, tissue factor gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7740478 12133906 F3 coagulation factor III, tissue factor gene DOID:10923 sickle cell anemia ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15795541|REF_RGD_ID:11341683 12133906 F3 coagulation factor III, tissue factor gene DOID:11247 disseminated intravascular coagulation ISO RGD:2587 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, plasma PMID:9426395|REF_RGD_ID:11060265 12133906 F3 coagulation factor III, tissue factor gene DOID:11247 disseminated intravascular coagulation ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20642682|PMID:7740478|PMID:9134660 12133906 F3 coagulation factor III, tissue factor gene DOID:11247 disseminated intravascular coagulation ISO RGD:737354 D RGD:9068941 20200609 RGD associated with Leukemia, Myeloid PMID:3802033|REF_RGD_ID:11341675 12133906 F3 coagulation factor III, tissue factor gene DOID:11247 disseminated intravascular coagulation ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8914465|REF_RGD_ID:11060253 12133906 F3 coagulation factor III, tissue factor gene DOID:11394 adult respiratory distress syndrome ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:10528607|REF_RGD_ID:11340213 12133906 F3 coagulation factor III, tissue factor gene DOID:1168 familial hyperlipidemia ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8914465|REF_RGD_ID:11060253 12133906 F3 coagulation factor III, tissue factor gene DOID:11713 diabetic angiopathy ISO RGD:737354 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:16371118|REF_RGD_ID:2313861 12133906 F3 coagulation factor III, tissue factor gene DOID:11713 diabetic angiopathy ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:9285207|REF_RGD_ID:2313868 12133906 F3 coagulation factor III, tissue factor gene DOID:1184 nephrotic syndrome ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17513194 12133906 F3 coagulation factor III, tissue factor gene DOID:12531 von Willebrand's disease ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:4546024|REF_RGD_ID:11341671 12133906 F3 coagulation factor III, tissue factor gene DOID:2452 thrombophilia ISO RGD:734290 D RGD:9068941 20200609 RGD PMID:15961065|REF_RGD_ID:11341696 12133906 F3 coagulation factor III, tissue factor gene DOID:2913 acute pancreatitis ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:serum (human, mouse) PMID:27923687|REF_RGD_ID:14398732 12133906 F3 coagulation factor III, tissue factor gene DOID:3410 carotid artery thrombosis ISO RGD:737354 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:17969370|REF_RGD_ID:2313859 12133906 F3 coagulation factor III, tissue factor gene DOID:4138 bile duct disease ISO RGD:737354 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:21037076|REF_RGD_ID:11341737 12133906 F3 coagulation factor III, tissue factor gene DOID:5082 liver cirrhosis ISO RGD:734290 D RGD:9068941 20200609 RGD PMID:21037076|REF_RGD_ID:11341737 12133906 F3 coagulation factor III, tissue factor gene DOID:5082 liver cirrhosis ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10216089 12133906 F3 coagulation factor III, tissue factor gene DOID:5082 liver cirrhosis severity ISO RGD:734290 D RGD:9068941 20200609 RGD PMID:28883694|REF_RGD_ID:14401724 12133906 F3 coagulation factor III, tissue factor gene DOID:5082 liver cirrhosis severity ISO RGD:737354 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:monocyte (human) PMID:9863491|REF_RGD_ID:14401592 12133906 F3 coagulation factor III, tissue factor gene DOID:5082 liver cirrhosis treatment ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:15946135|REF_RGD_ID:14401577 12133906 F3 coagulation factor III, tissue factor gene DOID:5425 ovarian hyperstimulation syndrome severity ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:12695751|REF_RGD_ID:11340210 12133906 F3 coagulation factor III, tissue factor gene DOID:5844 myocardial infarction treatment ISO RGD:2587 D RGD:9068941 20200609 RGD PMID:21229253|REF_RGD_ID:11062083 12133906 F3 coagulation factor III, tissue factor gene DOID:630 genetic disease ISO RGD:737354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12133906 F3 coagulation factor III, tissue factor gene DOID:8947 diabetic retinopathy ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor,serum PMID:12417540|REF_RGD_ID:2313865 12133906 F3 coagulation factor III, tissue factor gene DOID:9000169 Systemic Inflammatory Response Syndrome ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:9366751|REF_RGD_ID:11341681 12133906 F3 coagulation factor III, tissue factor gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:19535796|REF_RGD_ID:11341690 12133906 F3 coagulation factor III, tissue factor gene DOID:9000469 Viral Myocarditis ISO RGD:734290 D RGD:9068941 20200609 RGD PMID:18495150|REF_RGD_ID:11341693 12133906 F3 coagulation factor III, tissue factor gene DOID:9000612 Cardiac Allograft Vasculopathy ISO RGD:2587 D RGD:9068941 20200609 RGD PMID:9916935|REF_RGD_ID:11341701 12133906 F3 coagulation factor III, tissue factor gene DOID:9001268 Embolism and Thrombosis ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:16038715|REF_RGD_ID:11340219 12133906 F3 coagulation factor III, tissue factor gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2587 D RGD:9068941 20200609 RGD PMID:11750579|REF_RGD_ID:11341708 12133906 F3 coagulation factor III, tissue factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:737354 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:15004866|REF_RGD_ID:2313863 12133906 F3 coagulation factor III, tissue factor gene DOID:9002488 Peritoneal Fibrosis ISO RGD:2587 D RGD:9068941 20200609 RGD PMID:19458308|REF_RGD_ID:7394780 12133906 F3 coagulation factor III, tissue factor gene DOID:9002514 Neointima treatment ISO RGD:2587 D RGD:9068941 20200609 RGD PMID:22140576|REF_RGD_ID:11341672 12133906 F3 coagulation factor III, tissue factor gene DOID:9003121 Thromboembolism ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:24402608|REF_RGD_ID:11341738 12133906 F3 coagulation factor III, tissue factor gene DOID:9003139 Cardiac Fibrosis ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:12426405|REF_RGD_ID:11341691 12133906 F3 coagulation factor III, tissue factor gene DOID:9003281 Spontaneous Abortions ISO RGD:734290 D RGD:9068941 20200609 RGD PMID:12579195|REF_RGD_ID:1300308 12133906 F3 coagulation factor III, tissue factor gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:23873874|REF_RGD_ID:11340221 12133906 F3 coagulation factor III, tissue factor gene DOID:9003871 Venous Thrombosis ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14967414 12133906 F3 coagulation factor III, tissue factor gene DOID:9004484 Sepsis ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:9875912|REF_RGD_ID:11340217 12133906 F3 coagulation factor III, tissue factor gene DOID:9004484 Sepsis treatment ISO RGD:2587 D RGD:9068941 20200609 RGD PMID:26311287|REF_RGD_ID:11341736 12133906 F3 coagulation factor III, tissue factor gene DOID:9004610 Acute Lung Injury ISO RGD:2587 D RGD:9068941 20200609 RGD protein:increased expression: respiratory system fluid/secretion PMID:21964405|REF_RGD_ID:11341740 12133906 F3 coagulation factor III, tissue factor gene DOID:9005149 Ovary Reperfusion Injury treatment ISO RGD:2587 D RGD:9068941 20200609 RGD PMID:26370456|REF_RGD_ID:11341710 12133906 F3 coagulation factor III, tissue factor gene DOID:9005372 Inflammation ISO RGD:2587 D RGD:9068941 20200609 RGD protein:increased expression:lung, pes PMID:25772383|REF_RGD_ID:11341739 12133906 F3 coagulation factor III, tissue factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734290 D RGD:9068941 20200609 RGD protein:increased activity:kidney PMID:15990447|REF_RGD_ID:2313862 12133906 F3 coagulation factor III, tissue factor gene DOID:9005930 Endotoxemia ISO RGD:2587 D RGD:9068941 20200609 RGD PMID:21396682|REF_RGD_ID:5147765 12133906 F3 coagulation factor III, tissue factor gene DOID:9005930 Endotoxemia ISO RGD:737354 D RGD:9068941 20200609 RGD associated with Protein C Deficiency PMID:20858853|REF_RGD_ID:11341685 12133906 F3 coagulation factor III, tissue factor gene DOID:9005930 Endotoxemia treatment ISO RGD:734290 D RGD:9068941 20200609 RGD PMID:8956768|REF_RGD_ID:11340208 12133906 F3 coagulation factor III, tissue factor gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2587 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:25883098|REF_RGD_ID:11341735 12133906 F3 coagulation factor III, tissue factor gene DOID:9006646 Metabolic Syndrome ISO RGD:737354 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:12417540|REF_RGD_ID:2313865 12133906 F3 coagulation factor III, tissue factor gene DOID:9007102 Myocardial Ischemia ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16286589 12133906 F3 coagulation factor III, tissue factor gene DOID:9007116 Snake Bites ISO RGD:2587 D RGD:9068941 20200609 RGD protein:increased expression:lung, skin, plasma PMID:24831016|REF_RGD_ID:11341687 12133906 F3 coagulation factor III, tissue factor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22407844 12133906 F3 coagulation factor III, tissue factor gene DOID:9008217 Hemorrhage ISO RGD:734290 D RGD:9068941 20200609 RGD PMID:8692802|REF_RGD_ID:11341698 12133906 F3 coagulation factor III, tissue factor gene DOID:9008691 Liver Injury treatment ISO RGD:734290 D RGD:9068941 20200609 RGD associated with severe acute pancreatitis PMID:27923687|REF_RGD_ID:14398732 12133906 F3 coagulation factor III, tissue factor gene DOID:9008939 Breast Neoplasms ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15562024 12133906 F3 coagulation factor III, tissue factor gene DOID:9119 acute myeloid leukemia ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:2617479|REF_RGD_ID:11340207 12133906 F3 coagulation factor III, tissue factor gene DOID:9351 diabetes mellitus ISO RGD:737354 D RGD:9068941 20200609 RGD protein:decreased expression:urine PMID:9212353|REF_RGD_ID:2313869 12133906 F3 coagulation factor III, tissue factor gene DOID:9351 diabetes mellitus ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8914465|REF_RGD_ID:11060253 12133906 F3 coagulation factor III, tissue factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased activity:plasma PMID:17785358|REF_RGD_ID:2312381 12133906 F3 coagulation factor III, tissue factor gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:8429686|REF_RGD_ID:11340211 12133922 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:0050777 Joubert syndrome ISO RGD:1316868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12133922 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:0050902 medulloblastoma ISO RGD:1316868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 12133922 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1316868 D RGD:7240710 20190320 OMIM 12133922 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1316868 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16199547|PMID:16826528|PMID:17576681|PMID:18414213|PMID:19264732|PMID:20945554|PMID:21538692|PMID:22318994|PMID:22670141|PMID:22890305|PMID:23232695|PMID:24088041|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26633542|PMID:26633545|PMID:26833960|PMID:27651234|PMID:27891178|PMID:28057753|PMID:28166811|PMID:28492532|PMID:29276005|PMID:29416845|PMID:29758562|PMID:30370152|PMID:30525188|PMID:30982612|PMID:31209758|PMID:31785789|PMID:32335911|PMID:32860008|PMID:33767182|PMID:9536098 12133922 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1316868 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12133922 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12133922 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316868 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12133922 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1316868 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:25741868 12133922 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:0080597 Kleefstra syndrome ISO RGD:1316868 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome PMID:25741868 12133922 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1316868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12133922 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:1316868 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12133922 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1316868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12133922 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:1826 epilepsy ISO RGD:1316868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12133922 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1316868 D RGD:9068941 20200609 RGD protein:increased expression:esophagus mucosa: PMID:24805087|REF_RGD_ID:9590071 12133922 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1316868 D RGD:9068941 20200609 RGD protein:increased expression:esophagus: PMID:24649311|REF_RGD_ID:9589143 12133922 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1316868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:25741868 12133922 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1316868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15805155|PMID:16826528|PMID:17576681|PMID:18264113|PMID:18414213|PMID:19264732|PMID:20945554|PMID:22670141|PMID:22726846|PMID:25741868|PMID:26808425|PMID:28057753|PMID:28492532|PMID:9536098 12133922 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12133922 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1316868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12133922 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1316868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12133922 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1316868 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:23232695|PMID:25741868|PMID:30370152 12133922 EHMT1 euchromatic histone lysine methyltransferase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1316868 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:32889036 12133957 PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12133957 PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:732809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 12133957 PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 gene DOID:12849 autistic disorder ISO RGD:732809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12133957 PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 gene DOID:2018 hyperinsulinism ISO RGD:3307 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased expression:liver PMID:9705027|REF_RGD_ID:2302681 12133957 PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 gene DOID:630 genetic disease ISO RGD:732809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12133985 VPS26B VPS26, retromer complex component B gene DOID:0111723 Jacobsen Syndrome ISO RGD:1603929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12133985 VPS26B VPS26, retromer complex component B gene DOID:5419 schizophrenia ISO RGD:1603929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12133985 VPS26B VPS26, retromer complex component B gene DOID:630 genetic disease ISO RGD:1603929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12133985 VPS26B VPS26, retromer complex component B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12133985 VPS26B VPS26, retromer complex component B gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1603929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:16857760|PMID:21109224|PMID:23255084|PMID:28492532 12133994 C4H1orf198 chromosome 4 C1orf198 homolog gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1602995 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 12133994 C4H1orf198 chromosome 4 C1orf198 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1602995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12133994 C4H1orf198 chromosome 4 C1orf198 homolog gene DOID:630 genetic disease ISO RGD:1602995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12133994 C4H1orf198 chromosome 4 C1orf198 homolog gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1602995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 12133994 C4H1orf198 chromosome 4 C1orf198 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12134012 ZNF862 zinc finger protein 862 gene DOID:0060466 gingival fibromatosis ISO RGD:2299992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gingival fibromatosis PMID:25741868 12134012 ZNF862 zinc finger protein 862 gene DOID:2843 long QT syndrome ISO RGD:2299992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12134012 ZNF862 zinc finger protein 862 gene DOID:630 genetic disease ISO RGD:2299992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134030 ICAM4 intercellular adhesion molecule 4 gene DOID:630 genetic disease ISO RGD:1319054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134037 SBK3 SH3 domain binding kinase family member 3 gene DOID:630 genetic disease ISO RGD:7386817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134050 TMEM182 transmembrane protein 182 gene DOID:0080600 COVID-19 ISO RGD:1604752 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12134050 TMEM182 transmembrane protein 182 gene DOID:630 genetic disease ISO RGD:1604752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134059 SLC29A2 solute carrier family 29 member 2 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:733577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 12134059 SLC29A2 solute carrier family 29 member 2 gene DOID:1059 intellectual disability ISO RGD:733577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12134059 SLC29A2 solute carrier family 29 member 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:733577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12134059 SLC29A2 solute carrier family 29 member 2 gene DOID:2746 glycogen storage disease V ISO RGD:733577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12134059 SLC29A2 solute carrier family 29 member 2 gene DOID:630 genetic disease ISO RGD:733577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134059 SLC29A2 solute carrier family 29 member 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:733577 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12134059 SLC29A2 solute carrier family 29 member 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:733577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12134085 PTOV1 PTOV1 extended AT-hook containing adaptor protein gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1315896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12134085 PTOV1 PTOV1 extended AT-hook containing adaptor protein gene DOID:2843 long QT syndrome ISO RGD:1315896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12134085 PTOV1 PTOV1 extended AT-hook containing adaptor protein gene DOID:630 genetic disease ISO RGD:1315896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134085 PTOV1 PTOV1 extended AT-hook containing adaptor protein gene DOID:9000217 Stomach Neoplasms ISO RGD:1315896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12134085 PTOV1 PTOV1 extended AT-hook containing adaptor protein gene DOID:9000918 Disease Progression ISO RGD:1315896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12134105 C10H12orf56 chromosome 10 C12orf56 homolog gene DOID:630 genetic disease ISO RGD:1603368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134140 TDRD3 tudor domain containing 3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1320851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12134140 TDRD3 tudor domain containing 3 gene DOID:630 genetic disease ISO RGD:1320851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134159 SCAF4 SR-related CTD associated factor 4 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1317892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:25741868|PMID:28492532 12134159 SCAF4 SR-related CTD associated factor 4 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1317892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12134159 SCAF4 SR-related CTD associated factor 4 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1317892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12134159 SCAF4 SR-related CTD associated factor 4 gene DOID:1059 intellectual disability ISO RGD:1317892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12134159 SCAF4 SR-related CTD associated factor 4 gene DOID:630 genetic disease ISO RGD:1317892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32730804 12134159 SCAF4 SR-related CTD associated factor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317892 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: SCAF4-associated Neurodevelopmental disorder PMID:25741868|PMID:32730804 12134159 SCAF4 SR-related CTD associated factor 4 gene DOID:9005988 Multicystic Dysplastic Kidney ISO RGD:1317892 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Multicystic dysplastic kidney 12134159 SCAF4 SR-related CTD associated factor 4 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1317892 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868|PMID:32730804 12134185 CCDC152 coiled-coil domain containing 152 gene DOID:630 genetic disease ISO RGD:2298815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134185 CCDC152 coiled-coil domain containing 152 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2298815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12134198 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:0060194 juvenile amyotrophic lateral sclerosis 2 ISO RGD:1321241 D RGD:7240710 20180130 OMIM 12134198 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:0060194 juvenile amyotrophic lateral sclerosis 2 ISO RGD:1321241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ALS2-Related Spectrum Disorders | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 2 PMID:11586297|PMID:11586298|PMID:14676054|PMID:16240357|PMID:16321985|PMID:17576681|PMID:18852346|PMID:20077034|PMID:2328408|PMID:23881933|PMID:24315819|PMID:24562058|PMID:25174650|PMID:25558820|PMID:25588603|PMID:25741868|PMID:26257771|PMID:26467025|PMID:27159321|PMID:27790088|PMID:28430856|PMID:28492532|PMID:28600779|PMID:28832565|PMID:29605155|PMID:30054184|PMID:30224357|PMID:31182772|PMID:32214227|PMID:7920663|PMID:9536098 12134198 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1321241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12134198 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1321241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12134198 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:0110983 Joubert syndrome 14 ISO RGD:1321241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 14 PMID:11586298|PMID:22152675|PMID:24315819|PMID:28492532 12134198 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:10907 microcephaly ISO RGD:1321241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12134198 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:14557 primary pulmonary hypertension ISO RGD:1321241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:16429395|PMID:16429403|PMID:27453251|PMID:28492532|PMID:29743074 12134198 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1321241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:14676054|PMID:17576681|PMID:18852346|PMID:20077034|PMID:23881933|PMID:25174650|PMID:25363768|PMID:25558820|PMID:25741868|PMID:26257771|PMID:26467025|PMID:27790088|PMID:28407358|PMID:28492532|PMID:28714951|PMID:28832565|PMID:31182772|PMID:34011629|PMID:9536098 12134198 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1321241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease PMID:11586298|PMID:16199547|PMID:24315819|PMID:25741868|PMID:28492532|PMID:28832565 12134198 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:332 amyotrophic lateral sclerosis susceptibility ISO RGD:1321241 D RGD:9068941 20200609 RGD PMID:11586297|REF_RGD_ID:1599080 12134198 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:630 genetic disease ISO RGD:1321241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11586298|PMID:24315819|PMID:25741868|PMID:26467025|PMID:27159321|PMID:28492532 12134198 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:7319 axonal neuropathy ISO RGD:1321241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy PMID:25741868|PMID:26467025|PMID:28492532 12134198 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9000276 Juvenile Amyotrophic Lateral Sclerosis ISO RGD:1321241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis PMID:11586297|PMID:11586298|PMID:14676054|PMID:16240357|PMID:16321985|PMID:17576681|PMID:18852346|PMID:20077034|PMID:2328408|PMID:23881933|PMID:24315819|PMID:24562058|PMID:25174650|PMID:25588603|PMID:25741868|PMID:26467025|PMID:27159321|PMID:27790088|PMID:28430856|PMID:28492532|PMID:28600779|PMID:28832565|PMID:29605155|PMID:30054184|PMID:30224357|PMID:31182772|PMID:32214227|PMID:7920663|PMID:9536098 12134198 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1321241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12134198 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12134198 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9004896 Primary Lateral Sclerosis Juvenile ISO RGD:1321241 D RGD:7240710 20180130 OMIM 12134198 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9004896 Primary Lateral Sclerosis Juvenile ISO RGD:1321241 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Juvenile primary lateral sclerosis | ClinVar Annotator: match by term: PLS juvenile PMID:11586297|PMID:11586298|PMID:14676054|PMID:16240357|PMID:19122027|PMID:24315819|PMID:25741868|PMID:26467025|PMID:27159321|PMID:27601211|PMID:28492532|PMID:31182772|PMID:32214227 12134198 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9005843 Hereditary Spastic Paralysis, Infantile Onset Ascending ISO RGD:1321241 D RGD:7240710 20180130 OMIM 12134198 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9005843 Hereditary Spastic Paralysis, Infantile Onset Ascending ISO RGD:1321241 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis | ClinVar Annotator: match by term: Spastic paralysis, infantile onset ascending PMID:11586297|PMID:11586298|PMID:12145748|PMID:12509863|PMID:12919135|PMID:14676054|PMID:16199547|PMID:16718699|PMID:17576681|PMID:18523452|PMID:18852346|PMID:20077034|PMID:22152675|PMID:23881933|PMID:24315819|PMID:24562058|PMID:25174650|PMID:25302125|PMID:25363768|PMID:25558820|PMID:25588603|PMID:25741868|PMID:26257771|PMID:26467025|PMID:26742954|PMID:27159321|PMID:27601211|PMID:27790088|PMID:28160950|PMID:28407358|PMID:28430856|PMID:28492532|PMID:28600779|PMID:28709720|PMID:28714951|PMID:28832565|PMID:29605155|PMID:30054184|PMID:30128655|PMID:30224357|PMID:30581417|PMID:31182772|PMID:31405128|PMID:32214227|PMID:33409823|PMID:33589474|PMID:34011629|PMID:9536098 12134198 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1321241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12134198 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9008086 Developmental Disabilities ISO RGD:1321241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 12134198 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9009017 Amyotrophic Lateral Sclerosis, Autosomal Recessive ISO RGD:1321241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive PMID:25741868|PMID:28492532 12134247 LOC102151268 keratin-associated protein 1-3-like gene DOID:0060041 autism spectrum disorder ISO RGD:1351871 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder 12134247 LOC102151268 keratin-associated protein 1-3-like gene DOID:630 genetic disease ISO RGD:1351871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134270 LUZP6 leucine zipper protein 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2290193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12134270 LUZP6 leucine zipper protein 6 gene DOID:630 genetic disease ISO RGD:2290193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134312 JMJD4 jumonji domain containing 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1607006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12134312 JMJD4 jumonji domain containing 4 gene DOID:630 genetic disease ISO RGD:1607006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134312 JMJD4 jumonji domain containing 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12134321 SLC38A7 solute carrier family 38 member 7 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602480 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12134321 SLC38A7 solute carrier family 38 member 7 gene DOID:0080600 COVID-19 ISO RGD:1602480 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12134321 SLC38A7 solute carrier family 38 member 7 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602480 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12134321 SLC38A7 solute carrier family 38 member 7 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12134321 SLC38A7 solute carrier family 38 member 7 gene DOID:630 genetic disease ISO RGD:1602480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134355 ENTREP3 endosomal transmembrane epsin interactor 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1314529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12134355 ENTREP3 endosomal transmembrane epsin interactor 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1314529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12134355 ENTREP3 endosomal transmembrane epsin interactor 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12134355 ENTREP3 endosomal transmembrane epsin interactor 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12134355 ENTREP3 endosomal transmembrane epsin interactor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1314529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12134355 ENTREP3 endosomal transmembrane epsin interactor 3 gene DOID:5812 MHC class II deficiency ISO RGD:1314529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12134355 ENTREP3 endosomal transmembrane epsin interactor 3 gene DOID:630 genetic disease ISO RGD:1314529 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134355 ENTREP3 endosomal transmembrane epsin interactor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12134376 HIBCH 3-hydroxyisobutyryl-CoA hydrolase gene DOID:0111944 immunodeficiency 31B ISO RGD:1318134 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 12134376 HIBCH 3-hydroxyisobutyryl-CoA hydrolase gene DOID:630 genetic disease ISO RGD:1318134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093 12134376 HIBCH 3-hydroxyisobutyryl-CoA hydrolase gene DOID:8398 osteoarthritis ISO RGD:1318134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12134376 HIBCH 3-hydroxyisobutyryl-CoA hydrolase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12134376 HIBCH 3-hydroxyisobutyryl-CoA hydrolase gene DOID:9008784 Beta-Hydroxyisobutyryl CoA Deacylase Deficiency ISO RGD:1318134 D RGD:7240710 20180130 OMIM 12134376 HIBCH 3-hydroxyisobutyryl-CoA hydrolase gene DOID:9008784 Beta-Hydroxyisobutyryl CoA Deacylase Deficiency ISO RGD:1318134 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiency | ClinVar Annotator: match by term: Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency PMID:16199547|PMID:17160907|PMID:17576681|PMID:24033266|PMID:24299452|PMID:25251209|PMID:25591832|PMID:25741868|PMID:26026795|PMID:26163321|PMID:27435318|PMID:27896122|PMID:28454995|PMID:28492532|PMID:29703962|PMID:30111474|PMID:32022391|PMID:32677093|PMID:33762937|PMID:7122152|PMID:9536098 12134402 MYOF myoferlin gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:1343142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:24206907|PMID:28492532 12134402 MYOF myoferlin gene DOID:0080600 COVID-19 ISO RGD:1343142 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12134402 MYOF myoferlin gene DOID:630 genetic disease ISO RGD:1343142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134402 MYOF myoferlin gene DOID:9003195 Hereditary Angioedema 7 ISO RGD:1343142 D RGD:7240710 20210616 OMIM 12134402 MYOF myoferlin gene DOID:9003195 Hereditary Angioedema 7 ISO RGD:1343142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angioedema, hereditary, 7 PMID:32542751 12134464 LRRC20 leucine rich repeat containing 20 gene DOID:630 genetic disease ISO RGD:1602483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134475 XXYLT1 xyloside xylosyltransferase 1 gene DOID:0060224 atrial fibrillation ISO RGD:1345440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12134475 XXYLT1 xyloside xylosyltransferase 1 gene DOID:0080600 COVID-19 ISO RGD:1345440 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12134475 XXYLT1 xyloside xylosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1345440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134488 SLC31A2 solute carrier family 31 member 2 gene DOID:630 genetic disease ISO RGD:1317461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134505 SLC17A6 solute carrier family 17 member 6 gene DOID:1059 intellectual disability ISO RGD:730912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12134505 SLC17A6 solute carrier family 17 member 6 gene DOID:224 transient cerebral ischemia ISO RGD:620531 D RGD:9068941 20200609 RGD PMID:23458738|REF_RGD_ID:9999193 12134505 SLC17A6 solute carrier family 17 member 6 gene DOID:630 genetic disease ISO RGD:730912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134505 SLC17A6 solute carrier family 17 member 6 gene DOID:8927 learning disability ISO RGD:730912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21295146 12134505 SLC17A6 solute carrier family 17 member 6 gene DOID:9008023 Memory Disorders ISO RGD:730912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21295146 12134528 MIS18BP1 MIS18 binding protein 1 gene DOID:630 genetic disease ISO RGD:1313558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134528 MIS18BP1 MIS18 binding protein 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1313558 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12134558 KPLCE KPRP N-terminal and LCE C-terminal like protein gene DOID:0111940 immunodeficiency 42 ISO RGD:1602382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12134558 KPLCE KPRP N-terminal and LCE C-terminal like protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1602382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12134558 KPLCE KPRP N-terminal and LCE C-terminal like protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1602382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12134558 KPLCE KPRP N-terminal and LCE C-terminal like protein gene DOID:1540 parathyroid carcinoma ISO RGD:1602382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12134558 KPLCE KPRP N-terminal and LCE C-terminal like protein gene DOID:5812 MHC class II deficiency ISO RGD:1602382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12134558 KPLCE KPRP N-terminal and LCE C-terminal like protein gene DOID:630 genetic disease ISO RGD:1602382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134558 KPLCE KPRP N-terminal and LCE C-terminal like protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12134568 TTPA alpha tocopherol transfer protein gene DOID:0090028 familial isolated deficiency of vitamin E ISO RGD:731914 D RGD:7240710 20180130 OMIM 12134568 TTPA alpha tocopherol transfer protein gene DOID:0090028 familial isolated deficiency of vitamin E ISO RGD:731914 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial isolated deficiency of vitamin E PMID:10360777|PMID:10896705|PMID:11013295|PMID:11916749|PMID:12039660|PMID:12112220|PMID:12470185|PMID:12899840|PMID:12907280|PMID:14657365|PMID:15065857|PMID:15300460|PMID:15953402|PMID:16199547|PMID:16819822|PMID:17049453|PMID:17576681|PMID:18414213|PMID:18458085|PMID:19566498|PMID:20301419|PMID:21110980|PMID:21228398|PMID:22479462|PMID:22696689|PMID:23077608|PMID:23445347|PMID:23599266|PMID:23713716|PMID:24033266|PMID:24369383|PMID:25262571|PMID:25614784|PMID:25741868|PMID:26068213|PMID:26467025|PMID:27274910|PMID:27307040|PMID:28492532|PMID:30902645|PMID:31429931|PMID:31970222|PMID:34426522|PMID:34563650|PMID:34759169|PMID:3477125|PMID:3837850|PMID:7566022|PMID:7719340|PMID:8602747|PMID:8965888|PMID:9270601|PMID:9463307|PMID:9536098|PMID:9588854|PMID:9931538 12134568 TTPA alpha tocopherol transfer protein gene DOID:10584 retinitis pigmentosa ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 12134568 TTPA alpha tocopherol transfer protein gene DOID:1936 atherosclerosis ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11095717 12134568 TTPA alpha tocopherol transfer protein gene DOID:5679 retinal disease ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11752462 12134568 TTPA alpha tocopherol transfer protein gene DOID:630 genetic disease ISO RGD:731914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 12134568 TTPA alpha tocopherol transfer protein gene DOID:767 muscular atrophy ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 12134568 TTPA alpha tocopherol transfer protein gene DOID:863 nervous system disease ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11752462 12134568 TTPA alpha tocopherol transfer protein gene DOID:9000343 Vision Disorders ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 12134568 TTPA alpha tocopherol transfer protein gene DOID:9002500 Hearing Disorders ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 12134568 TTPA alpha tocopherol transfer protein gene DOID:9003919 Urination Disorders ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 12134568 TTPA alpha tocopherol transfer protein gene DOID:9004866 Ataxia susceptibility ISO RGD:731914 D RGD:9068941 20200609 RGD DNA:frameshift mutations: ; associated with Vitamin E Deficiency PMID:7719340|REF_RGD_ID:1600430 12134568 TTPA alpha tocopherol transfer protein gene DOID:9005219 Abnormal Reflexes ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 12134568 TTPA alpha tocopherol transfer protein gene DOID:9006205 Animal Disease Models ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11095717|PMID:11752462 12134568 TTPA alpha tocopherol transfer protein gene DOID:9006575 Vitamin E Deficiency ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11095717 12134568 TTPA alpha tocopherol transfer protein gene DOID:9007480 Hyperoxia ISO RGD:3915 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:12448818|REF_RGD_ID:1600432 12134568 TTPA alpha tocopherol transfer protein gene DOID:9008625 Somatosensory Disorders ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 12134568 TTPA alpha tocopherol transfer protein gene DOID:916 liver benign neoplasm ISO RGD:3915 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:9178827|REF_RGD_ID:1600436 12134568 TTPA alpha tocopherol transfer protein gene DOID:92 speech disorder ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 12134583 CPSF7 cleavage and polyadenylation specific factor 7 gene DOID:0050777 Joubert syndrome ISO RGD:1602680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12134583 CPSF7 cleavage and polyadenylation specific factor 7 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12134583 CPSF7 cleavage and polyadenylation specific factor 7 gene DOID:10283 prostate cancer ISO RGD:1602680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12134583 CPSF7 cleavage and polyadenylation specific factor 7 gene DOID:1059 intellectual disability ISO RGD:1602680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12134583 CPSF7 cleavage and polyadenylation specific factor 7 gene DOID:630 genetic disease ISO RGD:1602680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134615 CCNT2 cyclin T2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1319417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12134615 CCNT2 cyclin T2 gene DOID:630 genetic disease ISO RGD:1319417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134642 LRRC2 leucine rich repeat containing 2 gene DOID:630 genetic disease ISO RGD:1323318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134642 LRRC2 leucine rich repeat containing 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1323318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12134659 PTPRA protein tyrosine phosphatase receptor type A gene DOID:0090103 Huntington's disease-like 1 ISO RGD:736543 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12134659 PTPRA protein tyrosine phosphatase receptor type A gene DOID:3717 gastric adenocarcinoma ISO RGD:736543 D RGD:9068941 20220304 RGD associated with metastasis; protein:increased expression:gastric mucosa (human) PMID:16338072|REF_RGD_ID:151660348 12134659 PTPRA protein tyrosine phosphatase receptor type A gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:736543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12134659 PTPRA protein tyrosine phosphatase receptor type A gene DOID:630 genetic disease ISO RGD:736543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134659 PTPRA protein tyrosine phosphatase receptor type A gene DOID:9007102 Myocardial Ischemia ISO RGD:736543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12134659 PTPRA protein tyrosine phosphatase receptor type A gene DOID:9008352 Dystonia 30 ISO RGD:736543 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dystonia 30 PMID:25741868 12134686 FNDC11 fibronectin type III domain containing 11 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1601971 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 12134686 FNDC11 fibronectin type III domain containing 11 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1601971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12134686 FNDC11 fibronectin type III domain containing 11 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1601971 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 12134686 FNDC11 fibronectin type III domain containing 11 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1601971 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12134686 FNDC11 fibronectin type III domain containing 11 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1601971 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12134686 FNDC11 fibronectin type III domain containing 11 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1601971 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 12134686 FNDC11 fibronectin type III domain containing 11 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1601971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12134686 FNDC11 fibronectin type III domain containing 11 gene DOID:630 genetic disease ISO RGD:1601971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134686 FNDC11 fibronectin type III domain containing 11 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1601971 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 12134695 DNAJC17 DnaJ heat shock protein family (Hsp40) member C17 gene DOID:2717 Bloom syndrome ISO RGD:1602696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12134695 DNAJC17 DnaJ heat shock protein family (Hsp40) member C17 gene DOID:630 genetic disease ISO RGD:1602696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12134695 DNAJC17 DnaJ heat shock protein family (Hsp40) member C17 gene DOID:9256 colorectal cancer ISO RGD:1602696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 12134710 EEF1B2 eukaryotic translation elongation factor 1 beta 2 gene DOID:1059 intellectual disability ISO RGD:1322866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12134710 EEF1B2 eukaryotic translation elongation factor 1 beta 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:1322866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12134710 EEF1B2 eukaryotic translation elongation factor 1 beta 2 gene DOID:1826 epilepsy ISO RGD:1322866 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12134710 EEF1B2 eukaryotic translation elongation factor 1 beta 2 gene DOID:630 genetic disease ISO RGD:1322866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134710 EEF1B2 eukaryotic translation elongation factor 1 beta 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1322866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005|PMID:20562527 12134710 EEF1B2 eukaryotic translation elongation factor 1 beta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12134710 EEF1B2 eukaryotic translation elongation factor 1 beta 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1322866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12134710 EEF1B2 eukaryotic translation elongation factor 1 beta 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1322866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 12134721 RELL1 RELT like 1 gene DOID:630 genetic disease ISO RGD:1625842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134721 RELL1 RELT like 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1625842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12134735 ZNHIT6 zinc finger HIT-type containing 6 gene DOID:630 genetic disease ISO RGD:1607024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134759 DNASE2B deoxyribonuclease 2 beta gene DOID:630 genetic disease ISO RGD:1607010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134759 DNASE2B deoxyribonuclease 2 beta gene DOID:83 cataract ISO RGD:1332002 D RGD:9068941 20220825 MouseDO OMIM:601371 12134775 RNF138 ring finger protein 138 gene DOID:0080600 COVID-19 ISO RGD:1605080 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12134775 RNF138 ring finger protein 138 gene DOID:1059 intellectual disability ISO RGD:1605080 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12134775 RNF138 ring finger protein 138 gene DOID:630 genetic disease ISO RGD:1605080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134786 PPP2R3C protein phosphatase 2 regulatory subunit B''gamma gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:1319421 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:28492532 12134786 PPP2R3C protein phosphatase 2 regulatory subunit B''gamma gene DOID:0111921 spermatogenic failure 36 ISO RGD:1319421 D RGD:7240710 20190529 OMIM 12134786 PPP2R3C protein phosphatase 2 regulatory subunit B''gamma gene DOID:0111921 spermatogenic failure 36 ISO RGD:1319421 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 36 PMID:25741868|PMID:30893644|PMID:34714774|PMID:34750818|PMID:8849014 12134786 PPP2R3C protein phosphatase 2 regulatory subunit B''gamma gene DOID:630 genetic disease ISO RGD:1319421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134786 PPP2R3C protein phosphatase 2 regulatory subunit B''gamma gene DOID:9002447 Myoectodermal Gonadal Dysgenesis Syndrome ISO RGD:1319421 D RGD:7240710 20191023 OMIM 12134786 PPP2R3C protein phosphatase 2 regulatory subunit B''gamma gene DOID:9002447 Myoectodermal Gonadal Dysgenesis Syndrome ISO RGD:1319421 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy PMID:25741868|PMID:30893644|PMID:34714774|PMID:34750818|PMID:35812758|PMID:8849014 12134786 PPP2R3C protein phosphatase 2 regulatory subunit B''gamma gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319421 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12134806 ACTN1 actinin alpha 1 gene DOID:0111053 platelet-type bleeding disorder 15 ISO RGD:736411 D RGD:7240710 20180130 OMIM 12134806 ACTN1 actinin alpha 1 gene DOID:0111053 platelet-type bleeding disorder 15 ISO RGD:736411 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 PMID:23434115|PMID:24069336|PMID:25361813|PMID:25741868|PMID:25949529|PMID:26453073|PMID:26879394|PMID:28492532|PMID:28562514|PMID:30351444|PMID:31064749|PMID:31237726|PMID:31365757|PMID:32478077|PMID:32581362|PMID:34355501 12134806 ACTN1 actinin alpha 1 gene DOID:1588 thrombocytopenia ISO RGD:736411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:23434115|PMID:24069336|PMID:25361813|PMID:25741868|PMID:28492532|PMID:30351444|PMID:31064749|PMID:31237726|PMID:32581362 12134806 ACTN1 actinin alpha 1 gene DOID:2213 hemorrhagic disease ISO RGD:736411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 12134806 ACTN1 actinin alpha 1 gene DOID:630 genetic disease ISO RGD:736411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23434115|PMID:24069336|PMID:25361813|PMID:25741868|PMID:25949529|PMID:28492532|PMID:30351444|PMID:31064749|PMID:32581362 12134806 ACTN1 actinin alpha 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12134840 LRRC46 leucine rich repeat containing 46 gene DOID:630 genetic disease ISO RGD:1602198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134840 LRRC46 leucine rich repeat containing 46 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1602198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043753 12134861 ZC3H10 zinc finger CCCH-type containing 10 gene DOID:4195 hyperglycemia ISO RGD:1602996 D RGD:9068941 20210212 CTD CTD Direct Evidence: therapeutic PMID:31775033 12134861 ZC3H10 zinc finger CCCH-type containing 10 gene DOID:630 genetic disease ISO RGD:1602996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134861 ZC3H10 zinc finger CCCH-type containing 10 gene DOID:9007692 Insulin Resistance ISO RGD:1602996 D RGD:9068941 20210212 CTD CTD Direct Evidence: therapeutic PMID:31775033 12134861 ZC3H10 zinc finger CCCH-type containing 10 gene DOID:9970 obesity ISO RGD:1602996 D RGD:9068941 20210212 CTD CTD Direct Evidence: therapeutic PMID:31775033 12134882 TJAP1 tight junction associated protein 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1318637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12134882 TJAP1 tight junction associated protein 1 gene DOID:630 genetic disease ISO RGD:1318637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134882 TJAP1 tight junction associated protein 1 gene DOID:905 Zellweger syndrome ISO RGD:1318637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12134912 PALS2 protein associated with LIN7 2, MAGUK p55 family member gene DOID:0080600 COVID-19 ISO RGD:1323497 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12134912 PALS2 protein associated with LIN7 2, MAGUK p55 family member gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12134939 THAP5 THAP domain containing 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12134939 THAP5 THAP domain containing 5 gene DOID:630 genetic disease ISO RGD:1353274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12134963 LRIG2 leucine rich repeats and immunoglobulin like domains 2 gene DOID:0050816 urofacial syndrome ISO RGD:1319957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12134963 LRIG2 leucine rich repeats and immunoglobulin like domains 2 gene DOID:0080690 RASopathy ISO RGD:1319957 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12134963 LRIG2 leucine rich repeats and immunoglobulin like domains 2 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1319957 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 12134963 LRIG2 leucine rich repeats and immunoglobulin like domains 2 gene DOID:13938 amenorrhea ISO RGD:1319957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12134963 LRIG2 leucine rich repeats and immunoglobulin like domains 2 gene DOID:630 genetic disease ISO RGD:1319957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12134963 LRIG2 leucine rich repeats and immunoglobulin like domains 2 gene DOID:9000436 Urofacial Syndrome 2 ISO RGD:1319957 D RGD:7240710 20180130 OMIM 12134963 LRIG2 leucine rich repeats and immunoglobulin like domains 2 gene DOID:9000436 Urofacial Syndrome 2 ISO RGD:1319957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Urofacial syndrome 2 PMID:23313374|PMID:25741868 12134963 LRIG2 leucine rich repeats and immunoglobulin like domains 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1319957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741906 12134996 LOC484590 zinc finger protein 181 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1350016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12134996 LOC484590 zinc finger protein 181 gene DOID:630 genetic disease ISO RGD:1350016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135035 THRSP thyroid hormone responsive gene DOID:1059 intellectual disability ISO RGD:734265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12135035 THRSP thyroid hormone responsive gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:11417 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 12135035 THRSP thyroid hormone responsive gene DOID:305 carcinoma ISO RGD:734265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12135035 THRSP thyroid hormone responsive gene DOID:630 genetic disease ISO RGD:734265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135035 THRSP thyroid hormone responsive gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:734265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12135035 THRSP thyroid hormone responsive gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12135042 TGM6 transglutaminase 6 gene DOID:0050982 spinocerebellar ataxia type 35 ISO RGD:1349690 D RGD:7240710 20180130 OMIM 12135042 TGM6 transglutaminase 6 gene DOID:0050982 spinocerebellar ataxia type 35 ISO RGD:1349690 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 35 PMID:17576681|PMID:21106500|PMID:21907015|PMID:22287014|PMID:22554020|PMID:23206699|PMID:24755948|PMID:25133958|PMID:25253745|PMID:25741868|PMID:26467025|PMID:28135719|PMID:28492532|PMID:28934387|PMID:29482223|PMID:30229425|PMID:30670339|PMID:31785789|PMID:31920494|PMID:32259886|PMID:32426513|PMID:33378849|PMID:34008892|PMID:9536098 12135042 TGM6 transglutaminase 6 gene DOID:0080855 Parkinsonism ISO RGD:1349690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:25741868 12135042 TGM6 transglutaminase 6 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1349690 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12135042 TGM6 transglutaminase 6 gene DOID:1389 polyneuropathy ISO RGD:1349690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:25741868|PMID:26467025 12135042 TGM6 transglutaminase 6 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1349690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:26467025|PMID:28492532 12135042 TGM6 transglutaminase 6 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1349690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12135042 TGM6 transglutaminase 6 gene DOID:630 genetic disease ISO RGD:1349690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25133958|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30670339 12135042 TGM6 transglutaminase 6 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1349690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12135042 TGM6 transglutaminase 6 gene DOID:9119 acute myeloid leukemia ISO RGD:1349690 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:21106500|PMID:23206699|PMID:24755948|PMID:25253745|PMID:26467025|PMID:28492532|PMID:28934387|PMID:30229425|PMID:30670339|PMID:31920494|PMID:32259886|PMID:32426513 12135059 FAM234B family with sequence similarity 234 member B gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1605976 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12135059 FAM234B family with sequence similarity 234 member B gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1605976 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12135059 FAM234B family with sequence similarity 234 member B gene DOID:630 genetic disease ISO RGD:1605976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135076 SREK1 splicing regulatory glutamic acid and lysine rich protein 1 gene DOID:630 genetic disease ISO RGD:1352789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135076 SREK1 splicing regulatory glutamic acid and lysine rich protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12135114 IFT80 intraflagellar transport 80 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome PMID:16199547|PMID:16385454|PMID:17468754|PMID:17576681|PMID:19610081|PMID:19648123|PMID:19763152|PMID:20307669|PMID:21227999|PMID:22406018|PMID:23339108|PMID:25741868|PMID:28492532|PMID:29068549|PMID:29658880|PMID:29923190|PMID:30266093|PMID:30767363|PMID:9536098 12135114 IFT80 intraflagellar transport 80 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606252 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:11727201|PMID:12673792|PMID:16199547|PMID:17468754|PMID:17576681|PMID:19610081|PMID:19648123|PMID:19763152|PMID:20301601|PMID:20307669|PMID:21227999|PMID:22406018|PMID:23339108|PMID:25741868|PMID:28492532|PMID:29068549|PMID:29658880|PMID:30266093|PMID:30767363|PMID:33957996|PMID:9536098 12135114 IFT80 intraflagellar transport 80 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606252 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:16199547|PMID:17468754|PMID:17576681|PMID:19610081|PMID:19648123|PMID:19763152|PMID:20307669|PMID:21227999|PMID:22406018|PMID:23339108|PMID:25741868|PMID:28492532|PMID:29068549|PMID:29658880|PMID:29923190|PMID:30266093|PMID:30767363|PMID:33957996|PMID:9536098 12135114 IFT80 intraflagellar transport 80 gene DOID:0060118 thoracic disease ISO RGD:1606252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468754 12135114 IFT80 intraflagellar transport 80 gene DOID:0080006 bone development disease ISO RGD:1606252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468754 12135114 IFT80 intraflagellar transport 80 gene DOID:0110086 asphyxiating thoracic dystrophy 2 ISO RGD:1606252 D RGD:7240710 20180130 OMIM 12135114 IFT80 intraflagellar transport 80 gene DOID:0110086 asphyxiating thoracic dystrophy 2 ISO RGD:1606252 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 PMID:16199547|PMID:17468754|PMID:17576681|PMID:19610081|PMID:19648123|PMID:21227999|PMID:23339108|PMID:25741868|PMID:28492532|PMID:29068549|PMID:30266093|PMID:30767363|PMID:9536098 12135114 IFT80 intraflagellar transport 80 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1550300 D RGD:9068941 20220825 MouseDO OMIM:613091 12135114 IFT80 intraflagellar transport 80 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1606252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:19648123|PMID:28492532|PMID:29068549|PMID:30266093 12135114 IFT80 intraflagellar transport 80 gene DOID:11162 respiratory failure ISO RGD:1606252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468754 12135114 IFT80 intraflagellar transport 80 gene DOID:1148 polydactyly ISO RGD:1606252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468754 12135114 IFT80 intraflagellar transport 80 gene DOID:2975 cystic kidney disease ISO RGD:1606252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468754 12135114 IFT80 intraflagellar transport 80 gene DOID:630 genetic disease ISO RGD:1606252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12135114 IFT80 intraflagellar transport 80 gene DOID:65 connective tissue disease ISO RGD:1606252 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 12135114 IFT80 intraflagellar transport 80 gene DOID:8466 retinal degeneration ISO RGD:1606252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468754 12135114 IFT80 intraflagellar transport 80 gene DOID:9001041 Asphyxia ISO RGD:1606252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468754 12135114 IFT80 intraflagellar transport 80 gene DOID:9249 Beemer-Langer syndrome ISO RGD:1606252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome PMID:28492532|PMID:29068549 12135149 TNN tenascin N gene DOID:1540 parathyroid carcinoma ISO RGD:1314366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12135149 TNN tenascin N gene DOID:3755 antithrombin III deficiency ISO RGD:1314366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 12135149 TNN tenascin N gene DOID:630 genetic disease ISO RGD:1314366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135149 TNN tenascin N gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1314366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 12135149 TNN tenascin N gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12135177 ZNF449 zinc finger protein 449 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12135177 ZNF449 zinc finger protein 449 gene DOID:12849 autistic disorder ISO RGD:1348166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12135177 ZNF449 zinc finger protein 449 gene DOID:630 genetic disease ISO RGD:1348166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135177 ZNF449 zinc finger protein 449 gene DOID:9007661 Dwarfism ISO RGD:1348166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12135192 ESD esterase D gene DOID:630 genetic disease ISO RGD:1354034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135192 ESD esterase D gene DOID:8398 osteoarthritis ISO RGD:1354034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12135192 ESD esterase D gene DOID:9002669 Hypoxia ISO RGD:1354034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 12135215 TMED6 transmembrane p24 trafficking protein 6 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1346090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12135215 TMED6 transmembrane p24 trafficking protein 6 gene DOID:630 genetic disease ISO RGD:1346090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135225 PDE9A phosphodiesterase 9A gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:733534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12135225 PDE9A phosphodiesterase 9A gene DOID:0110266 cataract 9 multiple types ISO RGD:733534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12135225 PDE9A phosphodiesterase 9A gene DOID:12858 Huntington's disease treatment ISO RGD:621035 D RGD:9068941 20230330 RGD PMID:25315303|REF_RGD_ID:243048432 12135225 PDE9A phosphodiesterase 9A gene DOID:12930 dilated cardiomyopathy ISO RGD:733534 D RGD:9068941 20230325 RGD protein:increased expression:heart PMID:25799991|REF_RGD_ID:240550109 12135225 PDE9A phosphodiesterase 9A gene DOID:6000 congestive heart failure severity ISO RGD:733534 D RGD:9068941 20230325 RGD mRNA:increased expression:heart, peripheral blood mononuclear cell PMID:33787083|REF_RGD_ID:240191787 12135225 PDE9A phosphodiesterase 9A gene DOID:6000 congestive heart failure treatment ISO RGD:621035 D RGD:9068941 20230325 RGD PMID:28649129|REF_RGD_ID:241060360 12135225 PDE9A phosphodiesterase 9A gene DOID:630 genetic disease ISO RGD:733534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135225 PDE9A phosphodiesterase 9A gene DOID:8725 vascular dementia treatment ISO RGD:733535 D RGD:9068941 20230325 RGD PMID:30916555|REF_RGD_ID:242905183 12135225 PDE9A phosphodiesterase 9A gene DOID:891 progressive myoclonus epilepsy ISO RGD:733534 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12135225 PDE9A phosphodiesterase 9A gene DOID:9000543 Death sexual_dimorphism ISO RGD:733534 D RGD:9068941 20230325 RGD associated with coronary artery disease;DNA:SNP: :rs8133010 (human) PMID:35959094|REF_RGD_ID:242905186 12135225 PDE9A phosphodiesterase 9A gene DOID:9003197 Vaso-occlusive Crisis treatment ISO RGD:733535 D RGD:9068941 20230325 RGD PMID:22833547|REF_RGD_ID:242905184 12135225 PDE9A phosphodiesterase 9A gene DOID:9003936 Cardiomegaly treatment ISO RGD:621035 D RGD:9068941 20230325 RGD PMID:28649129|REF_RGD_ID:241060360 12135225 PDE9A phosphodiesterase 9A gene DOID:9003936 Cardiomegaly treatment ISO RGD:733535 D RGD:9068941 20230325 RGD PMID:25799991|PMID:33464954|REF_RGD_ID:240550109|REF_RGD_ID:242905185 12135225 PDE9A phosphodiesterase 9A gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:733535 D RGD:9068941 20230325 RGD PMID:34618683|REF_RGD_ID:242170038 12135225 PDE9A phosphodiesterase 9A gene DOID:9263 homocystinuria ISO RGD:733534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12135225 PDE9A phosphodiesterase 9A gene DOID:9562 primary ciliary dyskinesia ISO RGD:733534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12135225 PDE9A phosphodiesterase 9A gene DOID:9970 obesity treatment ISO RGD:733535 D RGD:9068941 20230325 RGD PMID:34618683|REF_RGD_ID:242170038 12135256 CTRL chymotrypsin like gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1346038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12135256 CTRL chymotrypsin like gene DOID:2843 long QT syndrome ISO RGD:1346038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12135256 CTRL chymotrypsin like gene DOID:630 genetic disease ISO RGD:1346038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135271 GYG1 glycogenin 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:1348748 D RGD:7240710 20180130 OMIM 12135271 GYG1 glycogenin 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:1348748 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:16199547|PMID:17576681|PMID:20357282|PMID:22198226|PMID:24033266|PMID:25272951|PMID:25741868|PMID:26652229|PMID:26944241|PMID:27544502|PMID:27718144|PMID:28453664|PMID:28492532|PMID:29143313|PMID:29264399|PMID:29422440|PMID:32528171|PMID:9536098 12135271 GYG1 glycogenin 1 gene DOID:2747 glycogen storage disease ISO RGD:1348748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20357282 12135271 GYG1 glycogenin 1 gene DOID:630 genetic disease ISO RGD:1348748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12135271 GYG1 glycogenin 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1348748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20357282 12135271 GYG1 glycogenin 1 gene DOID:9002303 Polyglucosan Body Myopathy 2 ISO RGD:1348748 D RGD:7240710 20180130 OMIM 12135271 GYG1 glycogenin 1 gene DOID:9002303 Polyglucosan Body Myopathy 2 ISO RGD:1348748 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy type 2 PMID:16199547|PMID:17576681|PMID:20357282|PMID:24033266|PMID:25272951|PMID:25741868|PMID:26652229|PMID:26944241|PMID:27718144|PMID:28453664|PMID:28492532|PMID:29143313|PMID:29264399|PMID:29422440|PMID:32528171|PMID:9536098 12135271 GYG1 glycogenin 1 gene DOID:9005532 Muscle Weakness ISO RGD:1348748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20357282 12135271 GYG1 glycogenin 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1348748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12135290 DPY19L4 dpy-19 like 4 gene DOID:630 genetic disease ISO RGD:1606660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135312 CCDC117 coiled-coil domain containing 117 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1602294 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 12135312 CCDC117 coiled-coil domain containing 117 gene DOID:630 genetic disease ISO RGD:1602294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135312 CCDC117 coiled-coil domain containing 117 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1602294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 12135324 GKN1 gastrokine 1 gene DOID:299 adenocarcinoma ISO RGD:1351595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 12135324 GKN1 gastrokine 1 gene DOID:5119 ovarian cyst ISO RGD:1351595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12135324 GKN1 gastrokine 1 gene DOID:630 genetic disease ISO RGD:1351595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135324 GKN1 gastrokine 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1351595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 12135334 SLC35D1 solute carrier family 35 member D1 gene DOID:0050775 schneckenbecken dysplasia ISO RGD:1320404 D RGD:7240710 20180130 OMIM 12135334 SLC35D1 solute carrier family 35 member D1 gene DOID:0050775 schneckenbecken dysplasia ISO RGD:1320404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schneckenbecken dysplasia PMID:16199547|PMID:17576681|PMID:17952091|PMID:19508970|PMID:25741868|PMID:28492532|PMID:9536098 12135334 SLC35D1 solute carrier family 35 member D1 gene DOID:1059 intellectual disability ISO RGD:1320404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12135334 SLC35D1 solute carrier family 35 member D1 gene DOID:630 genetic disease ISO RGD:1320404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12135334 SLC35D1 solute carrier family 35 member D1 gene DOID:65 connective tissue disease ISO RGD:1320404 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 12135334 SLC35D1 solute carrier family 35 member D1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 12135356 LOC100687749 60S ribosomal protein L39 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12135356 LOC100687749 60S ribosomal protein L39 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:735612 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 12135356 LOC100687749 60S ribosomal protein L39 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:735612 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 12135356 LOC100687749 60S ribosomal protein L39 gene DOID:12849 autistic disorder ISO RGD:735612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12135356 LOC100687749 60S ribosomal protein L39 gene DOID:630 genetic disease ISO RGD:735612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135364 DENND4C DENN domain containing 4C gene DOID:630 genetic disease ISO RGD:1318285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135411 SLC25A2 solute carrier family 25 member 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1347291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12135411 SLC25A2 solute carrier family 25 member 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347291 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12135411 SLC25A2 solute carrier family 25 member 2 gene DOID:630 genetic disease ISO RGD:1347291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135411 SLC25A2 solute carrier family 25 member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12135411 SLC25A2 solute carrier family 25 member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12135411 SLC25A2 solute carrier family 25 member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347291 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12135449 LOC102154408 rhox homeobox family member 2 gene DOID:0050437 Danon disease ISO RGD:1626578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 12135449 LOC102154408 rhox homeobox family member 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1626578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12135449 LOC102154408 rhox homeobox family member 2 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1626578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 12135449 LOC102154408 rhox homeobox family member 2 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1626578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 12135449 LOC102154408 rhox homeobox family member 2 gene DOID:12849 autistic disorder ISO RGD:1626578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12135449 LOC102154408 rhox homeobox family member 2 gene DOID:630 genetic disease ISO RGD:1626578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135502 BPIFB1 BPI fold containing family B member 1 gene DOID:630 genetic disease ISO RGD:1343435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135528 DDX6 DEAD-box helicase 6 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1349712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12135528 DDX6 DEAD-box helicase 6 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1349712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12135528 DDX6 DEAD-box helicase 6 gene DOID:0080690 RASopathy ISO RGD:1349712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12135528 DDX6 DEAD-box helicase 6 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1349712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12135528 DDX6 DEAD-box helicase 6 gene DOID:0110651 long QT syndrome 10 ISO RGD:1349712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12135528 DDX6 DEAD-box helicase 6 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1349712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12135528 DDX6 DEAD-box helicase 6 gene DOID:0111971 immunodeficiency 18 ISO RGD:1349712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12135528 DDX6 DEAD-box helicase 6 gene DOID:0111972 immunodeficiency 19 ISO RGD:1349712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12135528 DDX6 DEAD-box helicase 6 gene DOID:0111973 immunodeficiency 17 ISO RGD:1349712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12135528 DDX6 DEAD-box helicase 6 gene DOID:3307 teratoma ISO RGD:1349712 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 12135528 DDX6 DEAD-box helicase 6 gene DOID:630 genetic disease ISO RGD:1349712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135528 DDX6 DEAD-box helicase 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1349712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 12135528 DDX6 DEAD-box helicase 6 gene DOID:9001091 INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES ISO RGD:1349712 D RGD:7240710 20200115 OMIM 12135528 DDX6 DEAD-box helicase 6 gene DOID:9001091 INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES ISO RGD:1349712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with impaired language and dysmorphic facies PMID:25741868|PMID:31422817 12135528 DDX6 DEAD-box helicase 6 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12135528 DDX6 DEAD-box helicase 6 gene DOID:9007661 Dwarfism ISO RGD:1349712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12135549 C19H4orf33 chromosome 19 C4orf33 homolog gene DOID:630 genetic disease ISO RGD:1601935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135573 TGFB2 transforming growth factor beta 2 gene DOID:0050439 Usher syndrome ISO RGD:730953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 12135573 TGFB2 transforming growth factor beta 2 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:730953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:10611753|PMID:16199547|PMID:1644824|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32307099|PMID:3476488|PMID:7737999|PMID:9599222 12135573 TGFB2 transforming growth factor beta 2 gene DOID:0060468 Holt-Oram syndrome ISO RGD:730953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holt-Oram syndrome PMID:24465802|PMID:25741868|PMID:26017485|PMID:28492532|PMID:28633253|PMID:28655553 12135573 TGFB2 transforming growth factor beta 2 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:730953 D RGD:7240710 20180130 OMIM 12135573 TGFB2 transforming growth factor beta 2 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:730953 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:10611753|PMID:16199547|PMID:1644824|PMID:17576681|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:23102774|PMID:24033266|PMID:24193348|PMID:24465802|PMID:24577266|PMID:25046559|PMID:25049390|PMID:25640679|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:27782106|PMID:28139901|PMID:28492532|PMID:28544325|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32277047|PMID:32307099|PMID:34008892|PMID:3476488|PMID:7737999|PMID:9536098|PMID:9599222 12135573 TGFB2 transforming growth factor beta 2 gene DOID:0080006 bone development disease ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 12135573 TGFB2 transforming growth factor beta 2 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:730953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect 1 12135573 TGFB2 transforming growth factor beta 2 gene DOID:10487 Hirschsprung's disease ISO RGD:730953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:26017485|PMID:28492532 12135573 TGFB2 transforming growth factor beta 2 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:730953 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:22772371|PMID:24465802|PMID:25741868|PMID:26017485|PMID:28139901|PMID:28492532|PMID:28633253|PMID:28655553|PMID:29543232 12135573 TGFB2 transforming growth factor beta 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:730953 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:22772368|PMID:22772371|PMID:23102774|PMID:24465802|PMID:25644172|PMID:25741868|PMID:26017485|PMID:28492532|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914 12135573 TGFB2 transforming growth factor beta 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:730953 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10611753|PMID:16199547|PMID:1644824|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:22863191|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32307099|PMID:3476488|PMID:7737999|PMID:9599222 12135573 TGFB2 transforming growth factor beta 2 gene DOID:1520 colon carcinoma ISO RGD:1313707 D RGD:9068941 20200609 RGD PMID:10416598|REF_RGD_ID:13432084 12135573 TGFB2 transforming growth factor beta 2 gene DOID:1520 colon carcinoma disease_progression ISO RGD:730953 D RGD:9068941 20200609 RGD PMID:11166150|REF_RGD_ID:13432074 12135573 TGFB2 transforming growth factor beta 2 gene DOID:1540 parathyroid carcinoma ISO RGD:730953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12135573 TGFB2 transforming growth factor beta 2 gene DOID:1682 congenital heart disease ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 12135573 TGFB2 transforming growth factor beta 2 gene DOID:1686 glaucoma ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20375339 12135573 TGFB2 transforming growth factor beta 2 gene DOID:1790 malignant mesothelioma ISO RGD:730953 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12135573 TGFB2 transforming growth factor beta 2 gene DOID:2256 osteochondrodysplasia ISO RGD:70491 D RGD:9068941 20200609 RGD PMID:17366323|REF_RGD_ID:2302024 12135573 TGFB2 transforming growth factor beta 2 gene DOID:289 endometriosis ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12135573 TGFB2 transforming growth factor beta 2 gene DOID:3498 pancreatic ductal adenocarcinoma ameliorates ISO RGD:730953 D RGD:9068941 20221027 RGD protein:decreased expression:pancreas (human) PMID:8253361|REF_RGD_ID:155630628 12135573 TGFB2 transforming growth factor beta 2 gene DOID:3627 aortic aneurysm ISO RGD:730953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm PMID:22772371|PMID:25741868|PMID:28492532 12135573 TGFB2 transforming growth factor beta 2 gene DOID:3910 lung adenocarcinoma ISO RGD:730953 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 12135573 TGFB2 transforming growth factor beta 2 gene DOID:417 autoimmune disease ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 12135573 TGFB2 transforming growth factor beta 2 gene DOID:5082 liver cirrhosis ISO RGD:730953 D RGD:9068941 20200609 RGD PMID:30686515|REF_RGD_ID:14985228 12135573 TGFB2 transforming growth factor beta 2 gene DOID:5199 ureteral obstruction ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17164399 12135573 TGFB2 transforming growth factor beta 2 gene DOID:520 aortic disease ISO RGD:730953 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:22772368|PMID:23102774|PMID:25741868|PMID:26854089|PMID:28492532|PMID:28550590|PMID:29907982|PMID:31191903 12135573 TGFB2 transforming growth factor beta 2 gene DOID:5637 pancreatic adenosquamous carcinoma ameliorates ISO RGD:730953 D RGD:9068941 20221027 RGD human cells in a mouse model PMID:21366804|REF_RGD_ID:155630611 12135573 TGFB2 transforming growth factor beta 2 gene DOID:57 aortic valve insufficiency ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 12135573 TGFB2 transforming growth factor beta 2 gene DOID:5844 myocardial infarction ISO RGD:70491 D RGD:9068941 20200609 RGD PMID:14575314|REF_RGD_ID:2302107 12135573 TGFB2 transforming growth factor beta 2 gene DOID:630 genetic disease ISO RGD:730953 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22772368|PMID:24577266|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29392890|PMID:29907982|PMID:30071990|PMID:3476488 12135573 TGFB2 transforming growth factor beta 2 gene DOID:65 connective tissue disease ISO RGD:730953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 12135573 TGFB2 transforming growth factor beta 2 gene DOID:674 cleft palate ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25450421 12135573 TGFB2 transforming growth factor beta 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730953 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 12135573 TGFB2 transforming growth factor beta 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:70491 D RGD:9068941 20200609 RGD PMID:15145083|REF_RGD_ID:2302103 12135573 TGFB2 transforming growth factor beta 2 gene DOID:9000781 Cyanosis ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 12135573 TGFB2 transforming growth factor beta 2 gene DOID:9001600 Wounds and Injuries ISO RGD:70491 D RGD:9068941 20200609 RGD PMID:17117936|PMID:18205704|REF_RGD_ID:2292158|REF_RGD_ID:2302090 12135573 TGFB2 transforming growth factor beta 2 gene DOID:9001611 Urogenital Abnormalities ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 12135573 TGFB2 transforming growth factor beta 2 gene DOID:9002498 Wallerian Degeneration ISO RGD:70491 D RGD:9068941 20200609 RGD protein:decreased expression:sciatic nerve PMID:14997937|REF_RGD_ID:2302105 12135573 TGFB2 transforming growth factor beta 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:70491 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:central nervous system PMID:17204936|REF_RGD_ID:2302088 12135573 TGFB2 transforming growth factor beta 2 gene DOID:9004286 Hirschsprung Disease 1 ISO RGD:730953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung disease 1 PMID:25741868|PMID:26017485|PMID:28492532 12135573 TGFB2 transforming growth factor beta 2 gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 12135573 TGFB2 transforming growth factor beta 2 gene DOID:9005100 Aberrant Crypt Foci treatment ISO RGD:70491 D RGD:9068941 20200609 RGD PMID:17293967|REF_RGD_ID:13432080 12135573 TGFB2 transforming growth factor beta 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70491 D RGD:9068941 20200609 RGD protein:increased expression:parotid gland PMID:17574405|REF_RGD_ID:2302087 12135573 TGFB2 transforming growth factor beta 2 gene DOID:9006294 Congenital Limb Deformities ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 12135573 TGFB2 transforming growth factor beta 2 gene DOID:9006949 Martsolf Syndrome ISO RGD:730953 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 12135573 TGFB2 transforming growth factor beta 2 gene DOID:9007870 Respiratory System Abnormalities ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 12135573 TGFB2 transforming growth factor beta 2 gene DOID:9008296 Eye Abnormalities ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 12135573 TGFB2 transforming growth factor beta 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730953 D RGD:9068941 20200609 RGD associated with Inflammatory Bowel Diseases;DNA:hypermethylation PMID:22532293|REF_RGD_ID:13432077 12135573 TGFB2 transforming growth factor beta 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 12135573 TGFB2 transforming growth factor beta 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12135573 TGFB2 transforming growth factor beta 2 gene DOID:9256 colorectal cancer disease_progression ISO RGD:730953 D RGD:9068941 20200609 RGD PMID:15057430|REF_RGD_ID:13432086 12135573 TGFB2 transforming growth factor beta 2 gene DOID:9256 colorectal cancer treatment ISO RGD:730953 D RGD:9068941 20200609 RGD PMID:19661324|REF_RGD_ID:13432081 12135573 TGFB2 transforming growth factor beta 2 gene DOID:9446 cholangitis ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 12135573 TGFB2 transforming growth factor beta 2 gene DOID:9743 diabetic neuropathy ISO RGD:70491 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:dorsal root ganglion PMID:18406405|REF_RGD_ID:2302086 12135591 HELZ helicase with zinc finger gene DOID:630 genetic disease ISO RGD:1316013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135631 MTG1 mitochondrial ribosome associated GTPase 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1603933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12135631 MTG1 mitochondrial ribosome associated GTPase 1 gene DOID:630 genetic disease ISO RGD:1603933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135632 FAM47E family with sequence similarity 47 member E gene DOID:630 genetic disease ISO RGD:2302124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135632 FAM47E family with sequence similarity 47 member E gene DOID:891 progressive myoclonus epilepsy ISO RGD:2302124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 12135632 FAM47E family with sequence similarity 47 member E gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:2302124 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12135641 EIF4A1 eukaryotic translation initiation factor 4A1 gene DOID:0060041 autism spectrum disorder ISO RGD:1354204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12135641 EIF4A1 eukaryotic translation initiation factor 4A1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1354204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12135641 EIF4A1 eukaryotic translation initiation factor 4A1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1354204 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12135641 EIF4A1 eukaryotic translation initiation factor 4A1 gene DOID:12177 common variable immunodeficiency ISO RGD:1354204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12135641 EIF4A1 eukaryotic translation initiation factor 4A1 gene DOID:2729 dyskeratosis congenita ISO RGD:1354204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12135641 EIF4A1 eukaryotic translation initiation factor 4A1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1354204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12135641 EIF4A1 eukaryotic translation initiation factor 4A1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1354204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12135641 EIF4A1 eukaryotic translation initiation factor 4A1 gene DOID:630 genetic disease ISO RGD:1354204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135678 SSTR1 somatostatin receptor 1 gene DOID:169 neuroendocrine tumor ISO RGD:737191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17625444 12135678 SSTR1 somatostatin receptor 1 gene DOID:1793 pancreatic cancer ISO RGD:737191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17625444 12135678 SSTR1 somatostatin receptor 1 gene DOID:1824 status epilepticus ISO RGD:737191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18951627 12135678 SSTR1 somatostatin receptor 1 gene DOID:630 genetic disease ISO RGD:737191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135678 SSTR1 somatostatin receptor 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:737191 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12135678 SSTR1 somatostatin receptor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3762 D RGD:9068941 20200609 RGD PMID:7956902|REF_RGD_ID:2325008 12135694 SLC3A1 solute carrier family 3 member 1 gene DOID:0060858 hypotonia-cystinuria syndrome ISO RGD:1345624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 12135694 SLC3A1 solute carrier family 3 member 1 gene DOID:0080587 congenital myasthenic syndrome 22 ISO RGD:1345624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 22 PMID:10737983|PMID:17576681|PMID:19782624|PMID:22796000|PMID:24610330|PMID:25741868|PMID:28492532|PMID:32707643|PMID:9536098 12135694 SLC3A1 solute carrier family 3 member 1 gene DOID:1059 intellectual disability ISO RGD:1345624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12135694 SLC3A1 solute carrier family 3 member 1 gene DOID:12679 nephrocalcinosis ISO RGD:1345624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:25741868|PMID:28893421 12135694 SLC3A1 solute carrier family 3 member 1 gene DOID:3883 Lynch syndrome ISO RGD:1345624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12135694 SLC3A1 solute carrier family 3 member 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1345624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12135694 SLC3A1 solute carrier family 3 member 1 gene DOID:630 genetic disease ISO RGD:1345624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12135694 SLC3A1 solute carrier family 3 member 1 gene DOID:9266 cystinuria IAGP D RGD:12801476 20220629 OMIA Cystinuria, type II - A PMID:24001348|PMID:34438894|PMID:26002797 12135694 SLC3A1 solute carrier family 3 member 1 gene DOID:9266 cystinuria IAGP D RGD:12801476 20230405 OMIA Cystinuria, type I - A PMID:8334504|PMID:8334507|PMID:8334506|PMID:7493896|PMID:10028158|PMID:11129328|PMID:11467594|PMID:20190975|PMID:16845473|PMID:16566266|PMID:24001348|PMID:34438894|PMID:36971195|PMID:27388977 12135694 SLC3A1 solute carrier family 3 member 1 gene DOID:9266 cystinuria ISO RGD:1345624 D RGD:7240710 20180130 OMIM 12135694 SLC3A1 solute carrier family 3 member 1 gene DOID:9266 cystinuria ISO RGD:1345624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria PMID:10464673|PMID:10620184|PMID:10737983|PMID:11260385|PMID:11524703|PMID:11748844|PMID:12036192|PMID:12234283|PMID:12820697|PMID:14531788|PMID:14561219|PMID:14991253|PMID:15635077|PMID:15691362|PMID:16138908|PMID:16199547|PMID:16225397|PMID:16374432|PMID:17010017|PMID:17576681|PMID:17880288|PMID:18234729|PMID:18332091|PMID:18414213|PMID:18704508|PMID:18947684|PMID:19782624|PMID:20517292|PMID:21255007|PMID:21488254|PMID:21677404|PMID:22480232|PMID:22493502|PMID:22796000|PMID:23007880|PMID:23532419|PMID:24033266|PMID:24215330|PMID:24610330|PMID:25109415|PMID:25296721|PMID:25640679|PMID:25741868|PMID:25964309|PMID:26123750|PMID:26537754|PMID:28166740|PMID:28492532|PMID:28646536|PMID:28717662|PMID:28893421|PMID:30146843|PMID:30773290|PMID:32133030|PMID:33349102|PMID:33532864|PMID:7539209|PMID:7573036|PMID:8054986|PMID:8731106|PMID:8792820|PMID:9083097|PMID:9186880|PMID:9536098|PMID:9648062|PMID:9719865|PMID:9768685 12135694 SLC3A1 solute carrier family 3 member 1 gene DOID:9266 cystinuria susceptibility ISO RGD:1345624 D RGD:9068941 20200609 RGD DNA:missense mutations PMID:8054986|REF_RGD_ID:1600015 12135708 ATP7A ATPase copper transporting alpha gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:10216 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:20170900|PMID:25741868|PMID:28389643|PMID:32294113 12135708 ATP7A ATPase copper transporting alpha gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:10216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12135708 ATP7A ATPase copper transporting alpha gene DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ISO RGD:10216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia PMID:24550228|PMID:28492532 12135708 ATP7A ATPase copper transporting alpha gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:10216 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome PMID:28492532 12135708 ATP7A ATPase copper transporting alpha gene DOID:0111196 X-linked distal spinal muscular atrophy 3 ISO RGD:10216 D RGD:7240710 20180130 OMIM 12135708 ATP7A ATPase copper transporting alpha gene DOID:0111196 X-linked distal spinal muscular atrophy 3 ISO RGD:10216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE PMID:14985388|PMID:18414213|PMID:19153371|PMID:20170900|PMID:22210628|PMID:24033266|PMID:25428120|PMID:25741868|PMID:28119449|PMID:28492532 12135708 ATP7A ATPase copper transporting alpha gene DOID:0111272 occipital horn syndrome ISO RGD:10216 D RGD:7240710 20180130 OMIM 12135708 ATP7A ATPase copper transporting alpha gene DOID:0111272 occipital horn syndrome ISO RGD:10216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutis laxa, X-linked | ClinVar Annotator: match by term: EDS IX | ClinVar Annotator: match by term: Occipital horn syndrome PMID:10739752|PMID:11241493|PMID:11431706|PMID:16199547|PMID:17108763|PMID:18414213|PMID:19153371|PMID:20170900|PMID:20652413|PMID:22210628|PMID:24033266|PMID:25741868|PMID:28119449|PMID:28492532|PMID:7842019|PMID:8149649|PMID:8981948|PMID:9246006|PMID:9880610 12135708 ATP7A ATPase copper transporting alpha gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:10216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked PMID:26242992 12135708 ATP7A ATPase copper transporting alpha gene DOID:1059 intellectual disability ISO RGD:10216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12135708 ATP7A ATPase copper transporting alpha gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:10216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:14985388|PMID:19153371|PMID:20170900|PMID:22210628|PMID:28119449|PMID:28492532 12135708 ATP7A ATPase copper transporting alpha gene DOID:10652 Alzheimer's disease ISO RGD:2179 D RGD:9068941 20200609 RGD mRNA:decreased expression:pituitary gland, vascular plexus (rat) PMID:20027333|REF_RGD_ID:8657017 12135708 ATP7A ATPase copper transporting alpha gene DOID:11758 iron deficiency anemia ISO RGD:10215 D RGD:9068941 20200609 RGD mRNA:increased expression:duodenum (mouse) PMID:23776592|REF_RGD_ID:11252172 12135708 ATP7A ATPase copper transporting alpha gene DOID:11758 iron deficiency anemia ISO RGD:2179 D RGD:9068941 20200609 RGD mRNA:increased expression:small intestine mucosa (rat) PMID:15637178|REF_RGD_ID:2315589 12135708 ATP7A ATPase copper transporting alpha gene DOID:11758 iron deficiency anemia severity ISO RGD:10215 D RGD:9068941 20200609 RGD DNA:deletion:cds:p.A799_L800del (mouse) PMID:23776592|REF_RGD_ID:11252172 12135708 ATP7A ATPase copper transporting alpha gene DOID:12849 autistic disorder ISO RGD:10216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12135708 ATP7A ATPase copper transporting alpha gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:10216 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:10570920|PMID:11241493|PMID:18414213|PMID:20045993|PMID:23281160|PMID:25741868|PMID:28492532 12135708 ATP7A ATPase copper transporting alpha gene DOID:1838 Menkes disease ISO RGD:10216 D RGD:7240710 20180130 OMIM 12135708 ATP7A ATPase copper transporting alpha gene DOID:1838 Menkes disease ISO RGD:10216 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes disease, copper-replacement responsive | ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:10319589|PMID:10570920|PMID:10739752|PMID:11241493|PMID:11350187|PMID:12221109|PMID:12676902|PMID:14635105|PMID:14985388|PMID:15372525|PMID:16083905|PMID:16199547|PMID:16826513|PMID:17108763|PMID:17496194|PMID:17576681|PMID:18414213|PMID:18752978|PMID:19153371|PMID:19194885|PMID:20045993|PMID:20170900|PMID:20301586|PMID:20652413|PMID:21208200|PMID:21494555|PMID:21716286|PMID:22361452|PMID:23281160|PMID:24033266|PMID:25150085|PMID:25428120|PMID:25640679|PMID:25741868|PMID:26117549|PMID:27878136|PMID:28251916|PMID:28389643|PMID:28397151|PMID:28492532|PMID:29653220|PMID:30809870|PMID:31124329|PMID:31319225|PMID:32005694|PMID:32293788|PMID:33999244|PMID:34008892|PMID:7842019|PMID:7977350|PMID:8812725|PMID:8981948|PMID:9246006|PMID:9536098|PMID:9894833 12135708 ATP7A ATPase copper transporting alpha gene DOID:1838 Menkes disease ISO RGD:10216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes disease, copper-replacement responsive | ClinVar Annotator: match by term: Menkes disease, mild | ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:10319589|PMID:10570920|PMID:10739752|PMID:11241493|PMID:11350187|PMID:11472597|PMID:12221109|PMID:12676902|PMID:14635105|PMID:14985388|PMID:15372525|PMID:16083905|PMID:16199547|PMID:16826513|PMID:17108763|PMID:17483305|PMID:17576681|PMID:18256395|PMID:18414213|PMID:18752978|PMID:19153371|PMID:19194885|PMID:20045993|PMID:20170900|PMID:20301586|PMID:20497190|PMID:20652413|PMID:20799318|PMID:21208200|PMID:21494555|PMID:21716286|PMID:22074552|PMID:22210628|PMID:22264391|PMID:22361452|PMID:23281160|PMID:24033266|PMID:25150085|PMID:25428120|PMID:25640679|PMID:25741868|PMID:26117549|PMID:26467025|PMID:27878136|PMID:28119449|PMID:28389643|PMID:28397151|PMID:28451781|PMID:28492532|PMID:29653220|PMID:30809870|PMID:31124329|PMID:31319225|PMID:32005694|PMID:32293788|PMID:33999244|PMID:34008892|PMID:34440436|PMID:7842019|PMID:7977350|PMID:8812725|PMID:8981948|PMID:9166584|PMID:9246006|PMID:9385451|PMID:9467005|PMID:9536098|PMID:9668166|PMID:9894833 12135708 ATP7A ATPase copper transporting alpha gene DOID:1838 Menkes disease severity ISO RGD:10216 D RGD:9068941 20200609 RGD DNA:duplication:exon: PMID:22074552|REF_RGD_ID:12879459 12135708 ATP7A ATPase copper transporting alpha gene DOID:2355 anemia ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23776592 12135708 ATP7A ATPase copper transporting alpha gene DOID:3144 cutis laxa susceptibility ISO RGD:10216 D RGD:9068941 20200609 RGD DNA:splice-site mutation PMID:10739752|REF_RGD_ID:734621 12135708 ATP7A ATPase copper transporting alpha gene DOID:3627 aortic aneurysm ISO RGD:10215 D RGD:9068941 20220825 MouseDO 12135708 ATP7A ATPase copper transporting alpha gene DOID:3827 congenital diaphragmatic hernia ISO RGD:2179 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:diaphragm (rat) PMID:25319798|REF_RGD_ID:11341670 12135708 ATP7A ATPase copper transporting alpha gene DOID:630 genetic disease ISO RGD:10216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10570920|PMID:11241493|PMID:16083905|PMID:18414213|PMID:18752978|PMID:20045993|PMID:21716286|PMID:22264391|PMID:23281160|PMID:24033266|PMID:25741868|PMID:27878136|PMID:28389643|PMID:28397151|PMID:28492532|PMID:29653220 12135708 ATP7A ATPase copper transporting alpha gene DOID:6432 pulmonary hypertension ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24614111 12135708 ATP7A ATPase copper transporting alpha gene DOID:8398 osteoarthritis ISO RGD:10215 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400 12135708 ATP7A ATPase copper transporting alpha gene DOID:893 Wilson disease ISO RGD:2179 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:27331785|REF_RGD_ID:11340212 12135708 ATP7A ATPase copper transporting alpha gene DOID:9000352 Vascular System Injuries ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20671235 12135708 ATP7A ATPase copper transporting alpha gene DOID:9000495 Tremor ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22815746 12135708 ATP7A ATPase copper transporting alpha gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23792645 12135708 ATP7A ATPase copper transporting alpha gene DOID:9002514 Neointima ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20671235 12135708 ATP7A ATPase copper transporting alpha gene DOID:9002801 Recurrence ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22304828 12135708 ATP7A ATPase copper transporting alpha gene DOID:9002928 Colonic Neoplasms ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17510416 12135708 ATP7A ATPase copper transporting alpha gene DOID:9003603 Hemolysis ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25247420 12135708 ATP7A ATPase copper transporting alpha gene DOID:9003814 Neurologic Manifestations ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22815746|PMID:23064757 12135708 ATP7A ATPase copper transporting alpha gene DOID:9004080 Aortic Rupture ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2346371|PMID:25449986 12135708 ATP7A ATPase copper transporting alpha gene DOID:9004866 Ataxia ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22815746 12135708 ATP7A ATPase copper transporting alpha gene DOID:9005246 Paralysis ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22815746 12135708 ATP7A ATPase copper transporting alpha gene DOID:9006205 Animal Disease Models ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17483305 12135708 ATP7A ATPase copper transporting alpha gene DOID:9006257 Growth Disorders ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23064757 12135708 ATP7A ATPase copper transporting alpha gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:2179 D RGD:9068941 20200609 RGD PMID:24927960|REF_RGD_ID:11341676 12135708 ATP7A ATPase copper transporting alpha gene DOID:9007023 Prenatal Injuries ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25456742 12135708 ATP7A ATPase copper transporting alpha gene DOID:9008510 Chronic Hepatitis ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 12135749 CIMIP4 ciliary microtubule inner protein 4 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1606105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12135749 CIMIP4 ciliary microtubule inner protein 4 gene DOID:0070194 autosomal recessive chronic granulomatous disease 3 ISO RGD:1606105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III PMID:28492532 12135749 CIMIP4 ciliary microtubule inner protein 4 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1606105 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12135749 CIMIP4 ciliary microtubule inner protein 4 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1606105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12135749 CIMIP4 ciliary microtubule inner protein 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1606105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12135749 CIMIP4 ciliary microtubule inner protein 4 gene DOID:630 genetic disease ISO RGD:1606105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135758 SBF2 SET binding factor 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1354184 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:10932274|PMID:12687498|PMID:15304601|PMID:16199547|PMID:17576681|PMID:25741868|PMID:25873783|PMID:26392352|PMID:26467025|PMID:27582484|PMID:28492532|PMID:32376792|PMID:9536098 12135758 SBF2 SET binding factor 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1354184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10932274|PMID:12687498|PMID:15304601|PMID:15477569|PMID:16199547|PMID:17576681|PMID:24290377|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25873783|PMID:26392352|PMID:26467025|PMID:27582484|PMID:28492532|PMID:31070812|PMID:32376792|PMID:34169998|PMID:9536098 12135758 SBF2 SET binding factor 2 gene DOID:0110190 Charcot-Marie-Tooth disease type 4B2 ISO RGD:1354184 D RGD:7240710 20180130 OMIM 12135758 SBF2 SET binding factor 2 gene DOID:0110190 Charcot-Marie-Tooth disease type 4B2 ISO RGD:1354184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma PMID:10932274|PMID:12554688|PMID:12687498|PMID:15304601|PMID:15477569|PMID:17576681|PMID:24290377|PMID:25025039|PMID:25741868|PMID:25873783|PMID:26392352|PMID:26467025|PMID:27582484|PMID:28492532|PMID:31673878|PMID:32376792|PMID:34169998|PMID:9521281|PMID:9536098 12135758 SBF2 SET binding factor 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1354184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10932274|PMID:12687498|PMID:15304601|PMID:15477569|PMID:17576681|PMID:21840889|PMID:24627108|PMID:25231362|PMID:25741868|PMID:25873783|PMID:26467025|PMID:28492532|PMID:31070812|PMID:32376792|PMID:34169998|PMID:9521281|PMID:9536098 12135758 SBF2 SET binding factor 2 gene DOID:574 peripheral nervous system disease ISO RGD:1354184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:26392352|PMID:26467025|PMID:27582484|PMID:28492532 12135758 SBF2 SET binding factor 2 gene DOID:630 genetic disease ISO RGD:1354184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:24290377|PMID:25025039|PMID:25741868|PMID:26392352|PMID:26467025|PMID:27582484|PMID:28492532|PMID:32376792|PMID:34169998|PMID:9536098 12135758 SBF2 SET binding factor 2 gene DOID:870 neuropathy ISO RGD:1354184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:26392352|PMID:26467025|PMID:27582484|PMID:28492532 12135806 TEX36 testis expressed 36 gene DOID:630 genetic disease ISO RGD:1352588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135824 PPWD1 peptidylprolyl isomerase domain and WD repeat containing 1 gene DOID:630 genetic disease ISO RGD:1601770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135824 PPWD1 peptidylprolyl isomerase domain and WD repeat containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12135852 CIP2A cellular inhibitor of PP2A gene DOID:630 genetic disease ISO RGD:1343416 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135889 CFAP210 cilia and flagella associated protein 210 gene DOID:630 genetic disease ISO RGD:2298833 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135905 PGM2 phosphoglucomutase 2 gene DOID:0080600 COVID-19 ISO RGD:1314459 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12135905 PGM2 phosphoglucomutase 2 gene DOID:630 genetic disease ISO RGD:1314459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135923 DDX19A DEAD-box helicase 19A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1349788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12135923 DDX19A DEAD-box helicase 19A gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1349788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12135923 DDX19A DEAD-box helicase 19A gene DOID:630 genetic disease ISO RGD:1349788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12135939 ACYP1 acylphosphatase 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1351089 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:23352160|PMID:23773996|PMID:24386122|PMID:24767253|PMID:25741868|PMID:25764212|PMID:26981555|PMID:27792009|PMID:28492532|PMID:29928259|PMID:30548430 12135939 ACYP1 acylphosphatase 1 gene DOID:0070114 Niemann-Pick disease type C2 ISO RGD:1351089 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C2 PMID:12955717|PMID:15937921|PMID:23352160|PMID:23773996|PMID:24386122|PMID:24767253|PMID:25558065|PMID:25741868|PMID:25764212|PMID:26981555|PMID:27792009|PMID:28492532|PMID:29928259|PMID:30548430 12135939 ACYP1 acylphosphatase 1 gene DOID:1059 intellectual disability ISO RGD:1351089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12135939 ACYP1 acylphosphatase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1351089 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:12955717|PMID:15937921|PMID:25558065|PMID:25741868|PMID:25764212|PMID:28492532 12135951 HDAC8 histone deacetylase 8 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12135951 HDAC8 histone deacetylase 8 gene DOID:0060814 Wilson-Turner syndrome ISO RGD:1344478 D RGD:9068941 20200609 RGD DNA:snp:intron:c.164+5G>A (human) PMID:22889856|REF_RGD_ID:13208817 12135951 HDAC8 histone deacetylase 8 gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1344478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:25741868|PMID:26671848|PMID:30158690 12135951 HDAC8 histone deacetylase 8 gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:1344478 D RGD:7240710 20180130 OMIM 12135951 HDAC8 histone deacetylase 8 gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:1344478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 PMID:16199547|PMID:17576681|PMID:18414213|PMID:19605684|PMID:21320778|PMID:22885700|PMID:22889856|PMID:24038889|PMID:24088041|PMID:24375697|PMID:24403048|PMID:25075551|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25574841|PMID:25640679|PMID:25741868|PMID:26463496|PMID:26633545|PMID:26671848|PMID:26725122|PMID:27159028|PMID:28492532|PMID:29293505|PMID:30158690|PMID:9536098 12135951 HDAC8 histone deacetylase 8 gene DOID:10487 Hirschsprung's disease ISO RGD:1344478 D RGD:9068941 20200609 RGD protein:decreased expression:colon (human) PMID:16771768|REF_RGD_ID:13208819 12135951 HDAC8 histone deacetylase 8 gene DOID:1059 intellectual disability ISO RGD:1344478 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:22885700|PMID:24038889|PMID:24403048|PMID:25741868|PMID:26671848|PMID:26725122|PMID:27159028|PMID:28492532 12135951 HDAC8 histone deacetylase 8 gene DOID:10763 hypertension ISO RGD:1558090 D RGD:9068941 20200609 RGD protein:decreased expression:heart (mouse, rat) PMID:28567090|REF_RGD_ID:13208602 12135951 HDAC8 histone deacetylase 8 gene DOID:10763 hypertension ISO RGD:1562895 D RGD:9068941 20200609 RGD protein:decreased expression:heart (mouse, rat) PMID:28567090|REF_RGD_ID:13208602 12135951 HDAC8 histone deacetylase 8 gene DOID:12849 autistic disorder ISO RGD:1344478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12135951 HDAC8 histone deacetylase 8 gene DOID:1591 renovascular hypertension treatment ISO RGD:1562895 D RGD:9068941 20200609 RGD PMID:27673327|REF_RGD_ID:13208809 12135951 HDAC8 histone deacetylase 8 gene DOID:1882 atrial heart septal defect ISO RGD:1344478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12135951 HDAC8 histone deacetylase 8 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1344478 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (human) PMID:15888697|REF_RGD_ID:13208820 12135951 HDAC8 histone deacetylase 8 gene DOID:630 genetic disease ISO RGD:1344478 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15146185|PMID:15146186|PMID:17640042|PMID:18414213|PMID:19886810|PMID:21320778|PMID:22885700|PMID:22889856|PMID:24038889|PMID:24403048|PMID:24718998|PMID:25075551|PMID:25209348|PMID:25741868|PMID:26463496|PMID:26671848|PMID:26725122|PMID:27159028|PMID:28492532|PMID:30158690 12135951 HDAC8 histone deacetylase 8 gene DOID:670 amphetamine abuse ISO RGD:1562895 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum (rat) PMID:25452209|REF_RGD_ID:9681719 12135951 HDAC8 histone deacetylase 8 gene DOID:8445 intestinal volvulus ISO RGD:1344478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12135951 HDAC8 histone deacetylase 8 gene DOID:9000924 Gastrointestinal Motility Disorders ISO RGD:1344478 D RGD:9068941 20200609 RGD protein:decreased expression:colon (human) PMID:16771768|REF_RGD_ID:13208819 12135951 HDAC8 histone deacetylase 8 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1558090 D RGD:9068941 20200609 RGD PMID:25504627|REF_RGD_ID:13208811 12135951 HDAC8 histone deacetylase 8 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1562895 D RGD:9068941 20200609 RGD associated with Hypertension PMID:23868068|REF_RGD_ID:9681716 12135951 HDAC8 histone deacetylase 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12135951 HDAC8 histone deacetylase 8 gene DOID:9008086 Developmental Disabilities ISO RGD:1344478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:26671848 12135951 HDAC8 histone deacetylase 8 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1344478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12135989 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:736625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X | ClinVar Annotator: match by term: Charcot-Marie-Tooth, X-linked PMID:17701900|PMID:20021999|PMID:20301731|PMID:20301734|PMID:24033266|PMID:24528855|PMID:24961627|PMID:25182139|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28967191|PMID:29986705|PMID:30177296|PMID:31906484|PMID:32528171|PMID:32781272|PMID:33532242|PMID:8702702|PMID:8968763 12135989 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0050647 Arts syndrome ISO RGD:736625 D RGD:7240710 20180130 OMIM 12135989 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0050647 Arts syndrome ISO RGD:736625 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Arts syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE | ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision PMID:1664177|PMID:17701896|PMID:17701900|PMID:19161981|PMID:20301731|PMID:22246954|PMID:24033266|PMID:24528855|PMID:25741868|PMID:26089585|PMID:28492532|PMID:28967191|PMID:31906484|PMID:32781272|PMID:6243137|PMID:7593598|PMID:8253776|PMID:8498830 12135989 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:736625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis PMID:28492532 12135989 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12135989 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5 ISO RGD:736625 D RGD:7240710 20180130 OMIM 12135989 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5 ISO RGD:736625 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: Familial opticoacoustic nerve degeneration and polyneuropathy | ClinVar Annotator: match by term: Optic atrophy, neural deafness, and distal neurogenic amyotrophy PMID:17701900|PMID:20301731|PMID:24033266|PMID:24285972|PMID:25182139|PMID:25491489|PMID:25741868|PMID:28492532|PMID:32781272 12135989 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity ISO RGD:736625 D RGD:7240710 20180130 OMIM 12135989 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity ISO RGD:736625 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Phosphoribosylpyrophosphate synthetase superactivity PMID:1664177|PMID:171280|PMID:17701900|PMID:19161981|PMID:20301731|PMID:24033266|PMID:25741868|PMID:26089585|PMID:28492532|PMID:28967191|PMID:6243137|PMID:7593598|PMID:8253776 12135989 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0111739 X-linked deafness 1 ISO RGD:736625 D RGD:7240710 20180130 OMIM 12135989 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0111739 X-linked deafness 1 ISO RGD:736625 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL | ClinVar Annotator: match by term: Deafness, X-linked 1 PMID:10503584|PMID:15240907|PMID:17701900|PMID:20021999|PMID:20301731|PMID:24033266|PMID:24528855|PMID:25182139|PMID:25741868|PMID:28492532|PMID:8968763 12135989 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:736625 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.S16P (human) PMID:25491489|REF_RGD_ID:11056008 12135989 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:12849 autistic disorder ISO RGD:736625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12135989 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:13189 gout ISO RGD:736625 D RGD:9068941 20200609 RGD N113S, D182H PMID:8253776|REF_RGD_ID:1599725 12135989 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:630 genetic disease ISO RGD:736625 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1664177|PMID:19161981|PMID:24033266|PMID:25741868|PMID:26089585|PMID:26467025|PMID:28492532|PMID:6243137|PMID:8253776 12135989 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:8501 fundus dystrophy ISO RGD:736625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24961627|PMID:25741868|PMID:28492532|PMID:28967191|PMID:32781272 12135989 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:9003814 Neurologic Manifestations ISO RGD:736625 D RGD:9068941 20200609 RGD associated with Gout; DNA:missense mutations:cds:multiple (human) PMID:7593598|REF_RGD_ID:5134990 12135989 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:9004538 Hearing Loss ISO RGD:736625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked nonsyndromic hearing loss 12135989 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:9004657 Weight Gain ISO RGD:736625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12135989 PRPS1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:736625 D RGD:9068941 20200609 RGD N113S, D182H PMID:8253776|REF_RGD_ID:1599725 12136000 GABRR1 gamma-aminobutyric acid type A receptor subunit rho1 gene DOID:630 genetic disease ISO RGD:1346666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136013 GPR6 G protein-coupled receptor 6 gene DOID:630 genetic disease ISO RGD:737528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136022 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:0060163 body dysmorphic disorder ISO RGD:1317328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 12136022 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:0080227 autosomal dominant intellectual developmental disorder 55 ISO RGD:1317328 D RGD:7240710 20190315 OMIM 12136022 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:0080227 autosomal dominant intellectual developmental disorder 55 ISO RGD:1317328 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 55, WITH SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES PMID:16199547|PMID:25066056|PMID:25741868|PMID:28492532|PMID:29100083|PMID:31656175|PMID:32485575 12136022 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1317328 D RGD:7240710 20190315 OMIM 12136022 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1317328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type 1aa | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:16199547|PMID:17576681|PMID:25066056|PMID:25741868|PMID:28492532|PMID:29100083|PMID:30348779|PMID:31273557|PMID:9536098 12136022 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:1059 intellectual disability ISO RGD:1317328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 12136022 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:10603 glucose intolerance ISO RGD:1317328 D RGD:9068941 20211112 CTD CTD Direct Evidence: therapeutic PMID:33812996 12136022 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:10907 microcephaly ISO RGD:1317328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130|PMID:25741868 12136022 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:12849 autistic disorder ISO RGD:1317328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:24824130 12136022 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:1826 epilepsy ISO RGD:1317328 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12136022 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:1909 melanoma ISO RGD:1317328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12136022 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:4195 hyperglycemia ISO RGD:1317328 D RGD:9068941 20211112 CTD CTD Direct Evidence: therapeutic PMID:33812996 12136022 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:5212 congenital disorder of glycosylation ISO RGD:1317328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:25066056|PMID:25741868|PMID:28492532 12136022 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:630 genetic disease ISO RGD:1317328 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12136022 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:9000495 Tremor ISO RGD:1317328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12136022 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:9004657 Weight Gain ISO RGD:1317328 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33812996 12136022 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:9006205 Animal Disease Models ISO RGD:1317328 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33812996 12136022 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1317328 D RGD:9068941 20211112 CTD CTD Direct Evidence: therapeutic PMID:33812996 12136022 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:9007692 Insulin Resistance ISO RGD:1317328 D RGD:9068941 20211112 CTD CTD Direct Evidence: therapeutic PMID:33812996 12136022 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317328 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:30718926|PMID:33812996 12136022 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:9452 fatty liver disease ISO RGD:1317328 D RGD:9068941 20211112 CTD CTD Direct Evidence: therapeutic PMID:33812996 12136031 CAPN12 calpain 12 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1316482 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12136031 CAPN12 calpain 12 gene DOID:630 genetic disease ISO RGD:1316482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136031 CAPN12 calpain 12 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1316482 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12136048 NBEAL1 neurobeachin like 1 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1349211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12136048 NBEAL1 neurobeachin like 1 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1349211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12136048 NBEAL1 neurobeachin like 1 gene DOID:1059 intellectual disability ISO RGD:1349211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12136048 NBEAL1 neurobeachin like 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1349211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12136048 NBEAL1 neurobeachin like 1 gene DOID:3393 coronary artery disease ISO RGD:1349211 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 12136048 NBEAL1 neurobeachin like 1 gene DOID:630 genetic disease ISO RGD:1349211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136048 NBEAL1 neurobeachin like 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1349211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12136048 NBEAL1 neurobeachin like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12136048 NBEAL1 neurobeachin like 1 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1349211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12136121 FAM13C family with sequence similarity 13 member C gene DOID:10283 prostate cancer ISO RGD:1320881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12136121 FAM13C family with sequence similarity 13 member C gene DOID:630 genetic disease ISO RGD:1320881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136148 RWDD3 RWD domain containing 3 gene DOID:630 genetic disease ISO RGD:1314557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136156 PPP4R4 protein phosphatase 4 regulatory subunit 4 gene DOID:0080054 achondrogenesis type IA ISO RGD:1344077 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12136156 PPP4R4 protein phosphatase 4 regulatory subunit 4 gene DOID:0081063 DICER1 syndrome ISO RGD:1344077 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 12136156 PPP4R4 protein phosphatase 4 regulatory subunit 4 gene DOID:630 genetic disease ISO RGD:1344077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136184 ARL4D ADP ribosylation factor like GTPase 4D gene DOID:0080600 COVID-19 ISO RGD:1315741 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12136184 ARL4D ADP ribosylation factor like GTPase 4D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:19894111|PMID:23996866|PMID:24686251|PMID:28492532 12136184 ARL4D ADP ribosylation factor like GTPase 4D gene DOID:630 genetic disease ISO RGD:1315741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136197 NAXD NAD(P)HX dehydratase gene DOID:0111489 combined oxidative phosphorylation deficiency 27 ISO RGD:1601864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 PMID:28492532 12136197 NAXD NAD(P)HX dehydratase gene DOID:2222 factor X deficiency ISO RGD:1601864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12136197 NAXD NAD(P)HX dehydratase gene DOID:630 genetic disease ISO RGD:1601864 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12136197 NAXD NAD(P)HX dehydratase gene DOID:9000217 Stomach Neoplasms ISO RGD:1601864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12136197 NAXD NAD(P)HX dehydratase gene DOID:9000918 Disease Progression ISO RGD:1601864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12136197 NAXD NAD(P)HX dehydratase gene DOID:9001541 Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2 ISO RGD:1601864 D RGD:7240710 20190315 OMIM 12136197 NAXD NAD(P)HX dehydratase gene DOID:9001541 Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2 ISO RGD:1601864 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 PMID:25741868|PMID:28492532|PMID:30576410|PMID:31755961|PMID:32462209|PMID:35231119 12136197 NAXD NAD(P)HX dehydratase gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1601864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12136207 AAAS aladin WD repeat nucleoporin gene DOID:0050602 triple-A syndrome ISO RGD:1318625 D RGD:7240710 20180130 OMIM 12136207 AAAS aladin WD repeat nucleoporin gene DOID:0050602 triple-A syndrome ISO RGD:1318625 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ACTH-resistant adrenal insufficiency, achalasia and alacrima | ClinVar Annotator: match by term: Achalasia alacrima syndrome | ClinVar Annotator: match by term: Achalasia-Addisonianism-Alacrima (Triple-A) Syndrome | ClinVar Annotator: match by term: Achalasia-addisonianism-alacrimia syndrome | ClinVar Annotator: match by term: Achalasia-alacrima syndrome PMID:11062474|PMID:11159947|PMID:11701718|PMID:11914417|PMID:12429595|PMID:12700313|PMID:12730363|PMID:12752575|PMID:15173230|PMID:15666842|PMID:16199547|PMID:16609705|PMID:18172684|PMID:18261130|PMID:18414213|PMID:18615337|PMID:18628786|PMID:20674935|PMID:22538409|PMID:25741868|PMID:26243364|PMID:26595337|PMID:27133709|PMID:28492532|PMID:29255950|PMID:29874194|PMID:30069287|PMID:30455725|PMID:31600784 12136207 AAAS aladin WD repeat nucleoporin gene DOID:10907 microcephaly ISO RGD:1318625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12136207 AAAS aladin WD repeat nucleoporin gene DOID:630 genetic disease ISO RGD:1318625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11159947|PMID:12752575|PMID:18172684|PMID:22538409|PMID:25741868|PMID:26243364|PMID:28492532|PMID:29255950|PMID:30455725 12136207 AAAS aladin WD repeat nucleoporin gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 12136207 AAAS aladin WD repeat nucleoporin gene DOID:9002598 Spastic Paraparesis ISO RGD:1318625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraparesis PMID:11159947|PMID:12752575|PMID:18172684|PMID:22538409|PMID:25741868|PMID:26243364|PMID:28492532|PMID:29255950|PMID:30455725 12136207 AAAS aladin WD repeat nucleoporin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:11062474|PMID:11914417|PMID:25741868 12136207 AAAS aladin WD repeat nucleoporin gene DOID:9005219 Abnormal Reflexes ISO RGD:1318625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperreflexia PMID:11159947|PMID:12752575|PMID:18172684|PMID:22538409|PMID:25741868|PMID:26243364|PMID:28492532|PMID:29255950|PMID:30455725 12136207 AAAS aladin WD repeat nucleoporin gene DOID:9006534 Nervous System Malformations ISO RGD:1318625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12136207 AAAS aladin WD repeat nucleoporin gene DOID:9164 achalasia ISO RGD:1318625 D RGD:9068941 20200609 RGD PMID:16098009|REF_RGD_ID:1598514 12136241 XKR4 XK related 4 gene DOID:303 substance-related disorder ISO RGD:1606184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12136241 XKR4 XK related 4 gene DOID:630 genetic disease ISO RGD:1606184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136248 TRMT12 tRNA methyltransferase 12 homolog gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1605990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12136248 TRMT12 tRNA methyltransferase 12 homolog gene DOID:630 genetic disease ISO RGD:1605990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136268 CCDC13 coiled-coil domain containing 13 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1350707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 12136268 CCDC13 coiled-coil domain containing 13 gene DOID:630 genetic disease ISO RGD:1350707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136321 MAD1L1 mitotic arrest deficient 1 like 1 gene DOID:0060058 lymphoma ISO RGD:1312218 D RGD:9068941 20230413 RGD PMID:11423979|REF_RGD_ID:1599865 12136321 MAD1L1 mitotic arrest deficient 1 like 1 gene DOID:10283 prostate cancer ISO RGD:1312218 D RGD:7240710 20180418 OMIM 12136321 MAD1L1 mitotic arrest deficient 1 like 1 gene DOID:630 genetic disease ISO RGD:1312218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136321 MAD1L1 mitotic arrest deficient 1 like 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1312218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12136321 MAD1L1 mitotic arrest deficient 1 like 1 gene DOID:9000466 Prostate Cancer, Somatic ISO RGD:1312218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer, somatic PMID:11423979 12136321 MAD1L1 mitotic arrest deficient 1 like 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12136321 MAD1L1 mitotic arrest deficient 1 like 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312218 D RGD:9068941 20200609 RGD PMID:11423979|REF_RGD_ID:1599865 12136321 MAD1L1 mitotic arrest deficient 1 like 1 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1312218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23666239 12136321 MAD1L1 mitotic arrest deficient 1 like 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1312218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12136321 MAD1L1 mitotic arrest deficient 1 like 1 gene DOID:9006369 Mosaic Variegated Aneuploidy Syndrome 7 ISO RGD:1312218 D RGD:7240710 20230125 OMIM 12136321 MAD1L1 mitotic arrest deficient 1 like 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1312218 D RGD:9068941 20200609 RGD PMID:11423979|REF_RGD_ID:1599865 12136362 PUS1 pseudouridine synthase 1 gene DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia ISO RGD:1323553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia PMID:28492532 12136362 PUS1 pseudouridine synthase 1 gene DOID:0111185 myopathy, lactic acidosis, and sideroblastic anemia 1 ISO RGD:1323553 D RGD:7240710 20190320 OMIM 12136362 PUS1 pseudouridine synthase 1 gene DOID:0111185 myopathy, lactic acidosis, and sideroblastic anemia 1 ISO RGD:1323553 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 PMID:14981724|PMID:15108122|PMID:15772074|PMID:15971356|PMID:17056637|PMID:18648068|PMID:19731322|PMID:23707380|PMID:25058219|PMID:25227147|PMID:25326637|PMID:25741868|PMID:26556812|PMID:28492532|PMID:7726239 12136362 PUS1 pseudouridine synthase 1 gene DOID:630 genetic disease ISO RGD:1323553 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12136362 PUS1 pseudouridine synthase 1 gene DOID:699 mitochondrial myopathy ISO RGD:1323553 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial Myopathies PMID:25741868|PMID:28492532 12136362 PUS1 pseudouridine synthase 1 gene DOID:8955 sideroblastic anemia ISO RGD:1323553 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sideroblastic anemia PMID:25741868|PMID:28492532 12136362 PUS1 pseudouridine synthase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1323553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12136362 PUS1 pseudouridine synthase 1 gene DOID:9000918 Disease Progression ISO RGD:1323553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12136362 PUS1 pseudouridine synthase 1 gene DOID:9256 colorectal cancer ISO RGD:1323553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 12136377 UBE2E2 ubiquitin conjugating enzyme E2 E2 gene DOID:0050868 hepatocellular adenoma ISO RGD:1346022 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27914986 12136377 UBE2E2 ubiquitin conjugating enzyme E2 E2 gene DOID:630 genetic disease ISO RGD:1346022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136377 UBE2E2 ubiquitin conjugating enzyme E2 E2 gene DOID:684 hepatocellular carcinoma ISO RGD:1346022 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27914986 12136377 UBE2E2 ubiquitin conjugating enzyme E2 E2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346022 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20818381 12136391 SCGN secretagogin, EF-hand calcium binding protein gene DOID:630 genetic disease ISO RGD:1347901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136409 C1GALT1C1 C1GALT1 specific chaperone 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12136409 C1GALT1C1 C1GALT1 specific chaperone 1 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1344219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 12136409 C1GALT1C1 C1GALT1 specific chaperone 1 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1344219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 12136409 C1GALT1C1 C1GALT1 specific chaperone 1 gene DOID:0080520 Tn polyagglutination syndrome ISO RGD:1344219 D RGD:7240710 20180130 OMIM 12136409 C1GALT1C1 C1GALT1 specific chaperone 1 gene DOID:0080520 Tn polyagglutination syndrome ISO RGD:1344219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GALACTOSYLTRANSFERASE DEFICIENCY PMID:16251947|PMID:18537974|PMID:25741868|PMID:28492532 12136409 C1GALT1C1 C1GALT1 specific chaperone 1 gene DOID:12849 autistic disorder ISO RGD:1344219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12136409 C1GALT1C1 C1GALT1 specific chaperone 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1344219 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormal protein O-linked glycosylation PMID:25741868 12136409 C1GALT1C1 C1GALT1 specific chaperone 1 gene DOID:630 genetic disease ISO RGD:1344219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12136418 PHTF1 putative homeodomain transcription factor 1 gene DOID:0080690 RASopathy ISO RGD:1353546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12136418 PHTF1 putative homeodomain transcription factor 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1353546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 12136418 PHTF1 putative homeodomain transcription factor 1 gene DOID:630 genetic disease ISO RGD:1353546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136452 FAM229A family with sequence similarity 229 member A gene DOID:630 genetic disease ISO RGD:7204883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136459 ZNF10 zinc finger protein 10 gene DOID:630 genetic disease ISO RGD:1342937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136554 RPS15 ribosomal protein S15 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:736357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 12136554 RPS15 ribosomal protein S15 gene DOID:3892 insulinoma ISO RGD:62026 D RGD:9068941 20200609 RGD PMID:3019805|REF_RGD_ID:61740 12136554 RPS15 ribosomal protein S15 gene DOID:5339 cyclic hematopoiesis ISO RGD:736357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12136554 RPS15 ribosomal protein S15 gene DOID:630 genetic disease ISO RGD:736357 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136554 RPS15 ribosomal protein S15 gene DOID:9000217 Stomach Neoplasms ISO RGD:736357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12136554 RPS15 ribosomal protein S15 gene DOID:9000918 Disease Progression ISO RGD:736357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12136554 RPS15 ribosomal protein S15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12136560 SEC23IP SEC23 interacting protein gene DOID:630 genetic disease ISO RGD:1319616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136591 KPNA4 karyopherin subunit alpha 4 gene DOID:630 genetic disease ISO RGD:1322966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136615 PRUNE2 prune homolog 2 with BCH domain gene DOID:630 genetic disease ISO RGD:1322392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136615 PRUNE2 prune homolog 2 with BCH domain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12136644 NOLC1 nucleolar and coiled-body phosphoprotein 1 gene DOID:630 genetic disease ISO RGD:1354376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136668 TMEM181 transmembrane protein 181 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1350892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 12136668 TMEM181 transmembrane protein 181 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1350892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 12136668 TMEM181 transmembrane protein 181 gene DOID:630 genetic disease ISO RGD:1350892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136691 BASP1 brain abundant membrane attached signal protein 1 gene DOID:305 carcinoma ISO RGD:1347703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12136691 BASP1 brain abundant membrane attached signal protein 1 gene DOID:630 genetic disease ISO RGD:1347703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136691 BASP1 brain abundant membrane attached signal protein 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1347703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12136691 BASP1 brain abundant membrane attached signal protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12136691 BASP1 brain abundant membrane attached signal protein 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12136696 LOC100682968 zinc finger protein 420 gene DOID:3007 breast ductal carcinoma ISO RGD:1349955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12136696 LOC100682968 zinc finger protein 420 gene DOID:630 genetic disease ISO RGD:1349955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136717 MIR194 microRNA mir-194 gene DOID:0050439 Usher syndrome ISO RGD:1348209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 12136717 MIR194 microRNA mir-194 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1348209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12136717 MIR194 microRNA mir-194 gene DOID:1540 parathyroid carcinoma ISO RGD:1348209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12136717 MIR194 microRNA mir-194 gene DOID:9006949 Martsolf Syndrome ISO RGD:1348209 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 12136717 MIR194 microRNA mir-194 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28844483 12136717 MIR194 microRNA mir-194 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12136739 EPB41L5 erythrocyte membrane protein band 4.1 like 5 gene DOID:630 genetic disease ISO RGD:1322786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136785 PGA pepsinogen 5, group I (pepsinogen A) gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350538 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12136785 PGA pepsinogen 5, group I (pepsinogen A) gene DOID:1059 intellectual disability ISO RGD:1350538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12136785 PGA pepsinogen 5, group I (pepsinogen A) gene DOID:11963 esophagitis ISO RGD:1350538 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12928072 12136785 PGA pepsinogen 5, group I (pepsinogen A) gene DOID:630 genetic disease ISO RGD:1350538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136798 PAH phenylalanine hydroxylase gene DOID:0060041 autism spectrum disorder ISO RGD:735410 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 12136798 PAH phenylalanine hydroxylase gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:735410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital central hypoventilation PMID:14532329 12136798 PAH phenylalanine hydroxylase gene DOID:0090043 dystonia 5 ISO RGD:735410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:12655546|PMID:1601425|PMID:17630668|PMID:1769645|PMID:19292873|PMID:21147011|PMID:22330942|PMID:23348723|PMID:23430547|PMID:23500595|PMID:24296287|PMID:25596310|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30389586|PMID:32533790|PMID:32860008|PMID:32905092|PMID:33375644|PMID:8116675|PMID:8401510|PMID:8990013 12136798 PAH phenylalanine hydroxylase gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:735410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A | ClinVar Annotator: match by term: PTS Deficiency PMID:10234516|PMID:10394930|PMID:10598814|PMID:10693064|PMID:10980574|PMID:11161839|PMID:11244681|PMID:11385716|PMID:11708866|PMID:12501224|PMID:12655553|PMID:14722928|PMID:15464430|PMID:16051511|PMID:16198137|PMID:16290003|PMID:17096675|PMID:17502162|PMID:17924342|PMID:17935162|PMID:18294361|PMID:18299955|PMID:21147011|PMID:21307867|PMID:21953985|PMID:22698810|PMID:22917871|PMID:23357515|PMID:23430918|PMID:23500595|PMID:23690520|PMID:23792259|PMID:23842451|PMID:23932990|PMID:23942198|PMID:24350308|PMID:24368688|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26503515|PMID:26542770|PMID:26600521|PMID:26666653|PMID:26982749|PMID:27121329|PMID:27243974|PMID:27469133|PMID:27578510|PMID:27620137|PMID:28492532|PMID:28982351|PMID:29288420|PMID:29499199|PMID:29997390|PMID:30037505|PMID:30050108|PMID:30311390|PMID:30459323|PMID:30648773|PMID:31355225|PMID:31623983|PMID:32668217|PMID:32906206|PMID:33465300|PMID:33677757|PMID:33803550|PMID:7833954|PMID:7981714|PMID:8088845|PMID:8268925|PMID:8533759|PMID:8830172|PMID:8981952|PMID:9012412|PMID:9298832|PMID:9399896|PMID:9429153|PMID:9634518 12136798 PAH phenylalanine hydroxylase gene DOID:1059 intellectual disability ISO RGD:735410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12136798 PAH phenylalanine hydroxylase gene DOID:630 genetic disease ISO RGD:735410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10234516|PMID:10394930|PMID:10408782|PMID:10471838|PMID:10479481|PMID:10495930|PMID:10527663|PMID:10598814|PMID:10679941|PMID:10980574|PMID:11139255|PMID:11161839|PMID:11180595|PMID:11244681|PMID:11326337|PMID:11385716|PMID:11461190|PMID:11461196|PMID:11486900|PMID:11524738|PMID:11581453|PMID:11914042|PMID:11999982|PMID:12173030|PMID:12409276|PMID:12501224|PMID:12640344|PMID:12644360|PMID:12655544|PMID:12655546|PMID:12655548|PMID:12655550|PMID:12655553|PMID:1301187|PMID:1301200|PMID:1301202|PMID:1312992|PMID:1349576|PMID:1355066|PMID:14568534|PMID:14654665|PMID:14722928|PMID:14741196|PMID:15159646|PMID:15171997|PMID:15464430|PMID:15503242|PMID:15557004|PMID:15793771|PMID:1601425|PMID:1609797|PMID:16198137|PMID:16256386|PMID:16290003|PMID:1671768|PMID:1671770|PMID:1672290|PMID:1672294|PMID:1679030|PMID:1682495|PMID:16879198|PMID:17096675|PMID:17502162|PMID:17576681|PMID:17630668|PMID:1769645|PMID:17924342|PMID:17935162|PMID:18294361|PMID:18299955|PMID:18538294|PMID:18590700|PMID:18937047|PMID:18956252|PMID:19036622|PMID:19062537|PMID:19147918|PMID:19292873|PMID:19394257|PMID:1971144|PMID:1971147|PMID:1981599|PMID:1998345|PMID:2006152|PMID:20082265|PMID:2014036|PMID:2018035|PMID:20187763|PMID:20188615|PMID:20301677|PMID:2044609|PMID:20457534|PMID:2071149|PMID:20920871|PMID:20937381|PMID:21147011|PMID:21228398|PMID:21820508|PMID:21871829|PMID:21890392|PMID:21915151|PMID:21937252|PMID:21953985|PMID:22112818|PMID:22330942|PMID:22513348|PMID:22526846|PMID:22763404|PMID:22841515|PMID:22975760|PMID:2309142|PMID:2323773|PMID:23348723|PMID:23357515|PMID:23430547|PMID:23430918|PMID:23500595|PMID:23514811|PMID:23559577|PMID:23716935|PMID:23764561|PMID:23792259|PMID:23932990|PMID:24033266|PMID:24048906|PMID:24130151|PMID:24190797|PMID:24296287|PMID:24301756|PMID:24350308|PMID:24368688|PMID:24401910|PMID:24705691|PMID:24941924|PMID:25087612|PMID:25155776|PMID:25525159|PMID:25596310|PMID:2564729|PMID:25741868|PMID:2575001|PMID:25750018|PMID:26210745|PMID:26322415|PMID:26467025|PMID:26481238|PMID:26503515|PMID:26542770|PMID:26600521|PMID:26666653|PMID:26803807|PMID:26982749|PMID:26990548|PMID:27121329|PMID:27264808|PMID:27469133|PMID:27682710|PMID:28174686|PMID:28492532|PMID:28676969|PMID:2884570|PMID:28851938|PMID:28982351|PMID:29025426|PMID:29288420|PMID:29317692|PMID:29473999|PMID:29499199|PMID:29749107|PMID:29997390|PMID:30037505|PMID:30050108|PMID:3008810|PMID:30311390|PMID:30389586|PMID:30459323|PMID:30487145|PMID:30667134|PMID:30668579|PMID:30747360|PMID:30963030|PMID:31164572|PMID:31355225|PMID:31589614|PMID:31623983|PMID:31980526|PMID:32533790|PMID:32668217|PMID:32778825|PMID:32801363|PMID:32860008|PMID:32905092|PMID:33101986|PMID:33177615|PMID:33375644|PMID:33465300|PMID:33677757|PMID:33980295|PMID:3615198|PMID:7556322|PMID:7726156|PMID:7807961|PMID:7833927|PMID:7981714|PMID:8051931|PMID:8088845|PMID:8097262|PMID:8116675|PMID:8268925|PMID:8320703|PMID:8401510|PMID:8406445|PMID:8445621|PMID:8533759|PMID:8535445|PMID:8632937|PMID:8659548|PMID:8739972|PMID:8825928|PMID:8829656|PMID:8830172|PMID:8831077|PMID:8889590|PMID:8981952|PMID:8990013|PMID:9012412|PMID:9101291|PMID:9298832|PMID:9359039|PMID:9399896|PMID:9429153|PMID:9450897|PMID:9521426|PMID:9536098|PMID:9634518|PMID:9781015|PMID:9843368|PMID:9860305 12136798 PAH phenylalanine hydroxylase gene DOID:9000270 Congenital Central Hypoventilation Syndrome 1 ISO RGD:735410 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Haddad syndrome PMID:14532329 12136798 PAH phenylalanine hydroxylase gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:735410 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:10234516|PMID:10394930|PMID:10598814|PMID:10693064|PMID:11385716|PMID:12655553|PMID:14722928|PMID:16198137|PMID:17096675|PMID:17924342|PMID:17935162|PMID:18294361|PMID:18299955|PMID:21147011|PMID:21307867|PMID:22698810|PMID:23357515|PMID:23500595|PMID:23792259|PMID:23932990|PMID:24350308|PMID:24368688|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26542770|PMID:26600521|PMID:26666653|PMID:27121329|PMID:27243974|PMID:27620137|PMID:28492532|PMID:32906206|PMID:33803550|PMID:7981714|PMID:8268925|PMID:8533759|PMID:8830172|PMID:8981952|PMID:9012412|PMID:9298832|PMID:9399896|PMID:9429153|PMID:9634518 12136798 PAH phenylalanine hydroxylase gene DOID:9007139 Hyperphenylalaninemia, Non-Pku Mild ISO RGD:735410 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, NON-PKU MILD PMID:10234516|PMID:10527663|PMID:1301200|PMID:17924342|PMID:18590700|PMID:21871829|PMID:22526846|PMID:25741868|PMID:27469133|PMID:28492532|PMID:8364546|PMID:9450897|PMID:9634518 12136798 PAH phenylalanine hydroxylase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735410 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12136798 PAH phenylalanine hydroxylase gene DOID:9008397 Maternal Phenylketonuria ISO RGD:735410 D RGD:9068941 20200609 RGD PMID:14654659|REF_RGD_ID:1601526 12136798 PAH phenylalanine hydroxylase gene DOID:9008864 POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS ISO RGD:735410 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis PMID:10394930|PMID:11385716|PMID:11524738|PMID:11696894|PMID:12655546|PMID:12655553|PMID:16198137|PMID:16765994|PMID:17924342|PMID:17935162|PMID:18493213|PMID:1971144|PMID:2014036|PMID:21953985|PMID:22763404|PMID:22841515|PMID:23074961|PMID:23357515|PMID:23430918|PMID:23500595|PMID:24350308|PMID:24368688|PMID:2564729|PMID:25741868|PMID:26210745|PMID:26467025|PMID:26542770|PMID:28492532|PMID:29499199|PMID:30963030|PMID:31355225|PMID:8533759|PMID:9101291|PMID:9399896|PMID:9634518|PMID:9781015 12136798 PAH phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:7240710 20180130 OMIM 12136798 PAH phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria PMID:10196714|PMID:10200057|PMID:10234516|PMID:10356314|PMID:10356315|PMID:10394930|PMID:10408782|PMID:10429004|PMID:10471838|PMID:10472529|PMID:10479481|PMID:10484807|PMID:10495930|PMID:10527663|PMID:10541324|PMID:10598814|PMID:10679941|PMID:10685924|PMID:10693064|PMID:10720436|PMID:10767174|PMID:10875932|PMID:10947211|PMID:10980574|PMID:11051201|PMID:11139255|PMID:11142755|PMID:11161825|PMID:11161839|PMID:11180595|PMID:11214902|PMID:11243094|PMID:11244681|PMID:11295882|PMID:11326337|PMID:11328945|PMID:11385716|PMID:1146119|PMID:11461190|PMID:11461196|PMID:11486900|PMID:11524738|PMID:11581453|PMID:11588399|PMID:11678552|PMID:11696894|PMID:11708866|PMID:11914042|PMID:11935335|PMID:11999982|PMID:12126628|PMID:12173030|PMID:12210276|PMID:12409276|PMID:12501224|PMID:12542580|PMID:12554741|PMID:12640344|PMID:12644360|PMID:12649065|PMID:12655544|PMID:12655546|PMID:12655547|PMID:12655548|PMID:12655550|PMID:12655551|PMID:12655552|PMID:12655553|PMID:12655554|PMID:12765842|PMID:12836060|PMID:12905706|PMID:12971421|PMID:1301187|PMID:1301193|PMID:1301200|PMID:1301201|PMID:1301202|PMID:1301947|PMID:1307609|PMID:1312992|PMID:1349566|PMID:1349576|PMID:1355066|PMID:1358789|PMID:1360590|PMID:1363786|PMID:1363837|PMID:1363838|PMID:14654665|PMID:14681498|PMID:14722928|PMID:14726806|PMID:14741196|PMID:15159646|PMID:15171997|PMID:15300621|PMID:15319459|PMID:15459954|PMID:15464430|PMID:15503242|PMID:1555700|PMID:15557004|PMID:15589814|PMID:15633889|PMID:15793771|PMID:15943553|PMID:1601425|PMID:16051511|PMID:1609797|PMID:16143554|PMID:16165389|PMID:16167124|PMID:16176881|PMID:16198137|PMID:16199547|PMID:16253218|PMID:16256386|PMID:16290003|PMID:1639423|PMID:16402341|PMID:16504182|PMID:16545551|PMID:16601866|PMID:1671768|PMID:1671770|PMID:1671810|PMID:1671881|PMID:1672290|PMID:1672294|PMID:16755493|PMID:16765994|PMID:1679030|PMID:1682234|PMID:1682235|PMID:1682495|PMID:16875683|PMID:16879198|PMID:16931086|PMID:17096675|PMID:17221866|PMID:17408607|PMID:17502162|PMID:17513426|PMID:17557229|PMID:17576681|PMID:17627389|PMID:17630668|PMID:1769645|PMID:17846916|PMID:17924342|PMID:17935162|PMID:18247293|PMID:18294361|PMID:18299955|PMID:18321666|PMID:18346471|PMID:18394115|PMID:18447256|PMID:18493213|PMID:18538294|PMID:18590700|PMID:18592473|PMID:18798839|PMID:18937047|PMID:18937293|PMID:18956252|PMID:18985011|PMID:19015950|PMID:19036622|PMID:19062537|PMID:19099685|PMID:19147918|PMID:19292873|PMID:19394257|PMID:19444284|PMID:19609714|PMID:1968617|PMID:1971144|PMID:1971147|PMID:1975096|PMID:1975559|PMID:1978553|PMID:19786003|PMID:1981599|PMID:19913839|PMID:19915519|PMID:19948162|PMID:1997387|PMID:1998345|PMID:20017307|PMID:2006152|PMID:20063067|PMID:20082265|PMID:20123475|PMID:2014036|PMID:20140859|PMID:2014802|PMID:20179079|PMID:2018035|PMID:20187763|PMID:20188615|PMID:20301677|PMID:2035532|PMID:2044609|PMID:20457534|PMID:2063869|PMID:2071149|PMID:20920871|PMID:20937381|PMID:21147011|PMID:21154324|PMID:21228398|PMID:21307867|PMID:21445337|PMID:21462123|PMID:21527427|PMID:2173030|PMID:21811977|PMID:21820508|PMID:21871829|PMID:21890392|PMID:21953985|PMID:22106832|PMID:22112818|PMID:22300847|PMID:22330942|PMID:22333022|PMID:22388642|PMID:22391997|PMID:22513348|PMID:22526846|PMID:22698810|PMID:22763404|PMID:22841515|PMID:22917871|PMID:22921945|PMID:22975760|PMID:22995991|PMID:23062575|PMID:23074961|PMID:2309142|PMID:23220018|PMID:23225039|PMID:2323773|PMID:23271928|PMID:23348723|PMID:23357515|PMID:23430547|PMID:23430859|PMID:23430918|PMID:23500595|PMID:23514811|PMID:23559577|PMID:23690520|PMID:23716935|PMID:23757202|PMID:23764561|PMID:23792259|PMID:23842451|PMID:23856132|PMID:23932990|PMID:23942198|PMID:24033266|PMID:24048906|PMID:24078561|PMID:24130151|PMID:24190797|PMID:24296287|PMID:24301756|PMID:24327145|PMID:24350308|PMID:24368688|PMID:24401910|PMID:24510552|PMID:24510568|PMID:24628256|PMID:24661517|PMID:24667082|PMID:24705691|PMID:24765287|PMID:24789341|PMID:24882081|PMID:24939588|PMID:24941924|PMID:25003100|PMID:25085675|PMID:25087612|PMID:25155776 12136798 PAH phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria PMID:25323746|PMID:25333069|PMID:25453233|PMID:25456745|PMID:25525159|PMID:25550961|PMID:25551302|PMID:25563416|PMID:25596310|PMID:2564729|PMID:2574002|PMID:2574153|PMID:25741868|PMID:25750018|PMID:25757997|PMID:25863075|PMID:25882749|PMID:2589491|PMID:25894915|PMID:25920592|PMID:25952249|PMID:2606484|PMID:26206375|PMID:26210745|PMID:26322415|PMID:26351554|PMID:26413448|PMID:26467025|PMID:26481238|PMID:26503515|PMID:26542770|PMID:26589311|PMID:26600521|PMID:26655635|PMID:26666653|PMID:26701937|PMID:26803807|PMID:26982749|PMID:26990548|PMID:27121329|PMID:27175306|PMID:27243974|PMID:27264808|PMID:27308838|PMID:27413125|PMID:27469133|PMID:27578510|PMID:27620137|PMID:27623981|PMID:27682710|PMID:27760515|PMID:2816939|PMID:28174686|PMID:28400091|PMID:2840952|PMID:28492532|PMID:28653649|PMID:28676969|PMID:28754886|PMID:28771436|PMID:2884570|PMID:28851938|PMID:28915855|PMID:28982351|PMID:29032371|PMID:29144512|PMID:29176022|PMID:29288420|PMID:29316886|PMID:29317692|PMID:29390883|PMID:29413232|PMID:29473999|PMID:29499199|PMID:29653233|PMID:29654578|PMID:29749107|PMID:29997390|PMID:30037505|PMID:30050108|PMID:30067850|PMID:3008810|PMID:30159852|PMID:30275481|PMID:30311390|PMID:30367646|PMID:30389586|PMID:30459323|PMID:30487145|PMID:30648773|PMID:30667134|PMID:30747360|PMID:30829006|PMID:30838026|PMID:30887117|PMID:30904546|PMID:3093157|PMID:30963030|PMID:31102715|PMID:31178897|PMID:31208052|PMID:31332730|PMID:31355225|PMID:31445982|PMID:31589614|PMID:31623983|PMID:31640267|PMID:31737040|PMID:31980526|PMID:32106880|PMID:32668217|PMID:32778825|PMID:32801363|PMID:32860008|PMID:32893076|PMID:32905092|PMID:33101986|PMID:33116287|PMID:33465300|PMID:33564846|PMID:33677757|PMID:33803550|PMID:34039861|PMID:3615198|PMID:7545869|PMID:7556322|PMID:7581408|PMID:7668259|PMID:7707686|PMID:7726156|PMID:7741023|PMID:7766951|PMID:7766957|PMID:7807961|PMID:7833927|PMID:7833954|PMID:7844887|PMID:7860062|PMID:7913581|PMID:7914195|PMID:7915167|PMID:7981714|PMID:8019568|PMID:8051931|PMID:8068076|PMID:8069318|PMID:8088845|PMID:8095248|PMID:8097261|PMID:8097262|PMID:8097423|PMID:8098245|PMID:8116675|PMID:8222245|PMID:8268925|PMID:8304187|PMID:8320703|PMID:8364546|PMID:8364593|PMID:8370573|PMID:8401510|PMID:8406445|PMID:8445621|PMID:8487271|PMID:8528673|PMID:8533759|PMID:8535444|PMID:8535445|PMID:8556304|PMID:8592329|PMID:8632937|PMID:8659548|PMID:8682503|PMID:8739972|PMID:8807319|PMID:8807331|PMID:8829656|PMID:8830172|PMID:8831077|PMID:8860005|PMID:8889583|PMID:8889590|PMID:8981952|PMID:8990013|PMID:8990021|PMID:9012412|PMID:9048935|PMID:9101291|PMID:9169088|PMID:9254847|PMID:9284280|PMID:9298832|PMID:9359039|PMID:9380432|PMID:9391881|PMID:9399840|PMID:9399896|PMID:9429153|PMID:9450182|PMID:9450897|PMID:9452061|PMID:9452062|PMID:9521426|PMID:9536098|PMID:9540801|PMID:9575658|PMID:9600453|PMID:9634518|PMID:9642259|PMID:9781015|PMID:9792411|PMID:9799096|PMID:9825986|PMID:9860305|PMID:9949232|PMID:9950317 12136798 PAH phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Phenylketonuria PMID:25155776|PMID:25323746|PMID:25333069|PMID:25453233|PMID:25456745|PMID:25525159|PMID:25550961|PMID:25551302|PMID:25563416|PMID:25596310|PMID:2564729|PMID:2574002|PMID:2574153|PMID:25741868|PMID:25750018|PMID:25757997|PMID:25863075|PMID:25882749|PMID:2589491|PMID:25894915|PMID:25920592|PMID:25952249|PMID:2606484|PMID:26206375|PMID:26210745|PMID:26322415|PMID:26351554|PMID:26413448|PMID:26467025|PMID:26481238|PMID:26503515|PMID:26542770|PMID:26589311|PMID:26600521|PMID:26655635|PMID:26666653|PMID:26701937|PMID:26803807|PMID:26982749|PMID:26990548|PMID:27121329|PMID:27175306|PMID:27243974|PMID:27264808|PMID:27308838|PMID:27413125|PMID:27469133|PMID:27578510|PMID:27620137|PMID:27623981|PMID:27682710|PMID:27760515|PMID:2816939|PMID:28174686|PMID:28400091|PMID:2840952|PMID:28492532|PMID:28653649|PMID:28676969|PMID:28754886|PMID:28771436|PMID:2884570|PMID:28851938|PMID:28915855|PMID:28982351|PMID:29032371|PMID:29144512|PMID:29176022|PMID:29288420|PMID:29316886|PMID:29317692|PMID:29390883|PMID:29413232|PMID:29473999|PMID:29499199|PMID:29653233|PMID:29654578|PMID:29749107|PMID:29997390|PMID:30037505|PMID:30050108|PMID:30067850|PMID:3008810|PMID:30159852|PMID:30275481|PMID:30311390|PMID:30367646|PMID:30389586|PMID:30459323|PMID:30487145|PMID:30648773|PMID:30667134|PMID:30747360|PMID:30829006|PMID:30838026|PMID:30887117|PMID:30904546|PMID:3093157|PMID:30963030|PMID:31102715|PMID:31130284|PMID:31178897|PMID:31208052|PMID:31332730|PMID:31355225|PMID:31445982|PMID:31589614|PMID:31623983|PMID:31640267|PMID:31737040|PMID:31980526|PMID:32039316|PMID:32106880|PMID:32668217|PMID:32778825|PMID:32801363|PMID:32860008|PMID:32893076|PMID:32905092|PMID:33101986|PMID:33116287|PMID:33465300|PMID:33564846|PMID:33677757|PMID:33803550|PMID:34039861|PMID:35690318|PMID:3615198|PMID:7545869|PMID:7556322|PMID:7581408|PMID:7668259|PMID:7707686|PMID:7726156|PMID:7741023|PMID:7766951|PMID:7766957|PMID:7807961|PMID:7833927|PMID:7833954|PMID:7844887|PMID:7860062|PMID:7913581|PMID:7914195|PMID:7915167|PMID:7981714|PMID:8019568|PMID:8051931|PMID:8068076|PMID:8069318|PMID:8088845|PMID:8095248|PMID:8097261|PMID:8097262|PMID:8097423|PMID:8098245|PMID:8116675|PMID:8222245|PMID:8268925|PMID:8304187|PMID:8320703|PMID:8364546|PMID:8364593|PMID:8370573|PMID:8401510|PMID:8406445|PMID:8445621|PMID:8487271|PMID:8528673|PMID:8533759|PMID:8535444|PMID:8535445|PMID:8556304|PMID:8592329|PMID:8632937|PMID:8659548|PMID:8682503|PMID:8739972|PMID:8807319|PMID:8807331|PMID:8829656|PMID:8830172|PMID:8831077|PMID:8860005|PMID:8889583|PMID:8889590|PMID:8981952|PMID:8990013|PMID:8990021|PMID:9012412|PMID:9048935|PMID:9101291|PMID:9169088|PMID:9254847|PMID:9284280|PMID:9298832|PMID:9359039|PMID:9380432|PMID:9391881|PMID:9399840|PMID:9399896|PMID:9429153|PMID:9450182|PMID:9450897|PMID:9452061|PMID:9452062|PMID:9521426|PMID:9536098|PMID:9540801|PMID:9575658|PMID:9600453|PMID:9634518|PMID:9642259|PMID:9781015|PMID:9792411|PMID:9799096|PMID:9825986|PMID:9860305|PMID:9949232|PMID:9950317 12136798 PAH phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Folling disease | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria PMID:10196714|PMID:10200057|PMID:10234516|PMID:10356314|PMID:10356315|PMID:10394930|PMID:10408782|PMID:10429004|PMID:10471838|PMID:10472529|PMID:10479481|PMID:10484807|PMID:10495930|PMID:10527663|PMID:10541324|PMID:10598814|PMID:10679941|PMID:10685924|PMID:10693064|PMID:10720436|PMID:10767174|PMID:10875932|PMID:10947211|PMID:10980574|PMID:11051201|PMID:11139255|PMID:11142755|PMID:11161825|PMID:11161839|PMID:11180595|PMID:11214902|PMID:11243094|PMID:11244681|PMID:11295882|PMID:11326337|PMID:11328945|PMID:11360625|PMID:11385716|PMID:1146119|PMID:11461190|PMID:11461196|PMID:11486900|PMID:11524738|PMID:11581453|PMID:11588399|PMID:11678552|PMID:11696894|PMID:11708866|PMID:11914042|PMID:11935335|PMID:11999982|PMID:12126628|PMID:12173030|PMID:12210276|PMID:12409276|PMID:12501224|PMID:12542580|PMID:12554741|PMID:12640344|PMID:12644360|PMID:12649065|PMID:12655544|PMID:12655546|PMID:12655547|PMID:12655548|PMID:12655550|PMID:12655551|PMID:12655552|PMID:12655553|PMID:12655554|PMID:12765842|PMID:12836060|PMID:12905706|PMID:12971421|PMID:1301187|PMID:1301193|PMID:1301200|PMID:1301201|PMID:1301202|PMID:1301947|PMID:1307609|PMID:1312992|PMID:1349566|PMID:1349576|PMID:1355066|PMID:1358789|PMID:1360590|PMID:1363786|PMID:1363837|PMID:1363838|PMID:14568534|PMID:14654665|PMID:14681498|PMID:14722928|PMID:14726806|PMID:14741196|PMID:15159646|PMID:15171997|PMID:15300621|PMID:15319459|PMID:15459954|PMID:15464430|PMID:15503242|PMID:1555700|PMID:15557004|PMID:15589814|PMID:15633889|PMID:15793771|PMID:15943553|PMID:1601425|PMID:16051511|PMID:1609797|PMID:16143554|PMID:16165389|PMID:16167124|PMID:16176881|PMID:16198137|PMID:16199547|PMID:16253218|PMID:16256386|PMID:16290003|PMID:1639423|PMID:16402341|PMID:16504182|PMID:16545551|PMID:16601866|PMID:1671768|PMID:1671770|PMID:1671810|PMID:1671881|PMID:1672290|PMID:1672294|PMID:16755493|PMID:16765994|PMID:1679030|PMID:1682234|PMID:1682235|PMID:1682495|PMID:16875683|PMID:16879198|PMID:16931086|PMID:17096675|PMID:17221866|PMID:17408607|PMID:17502162|PMID:17513426|PMID:17557229|PMID:17576681|PMID:17627389|PMID:17630668|PMID:1769645|PMID:17846916|PMID:17924342|PMID:17935162|PMID:18247293|PMID:18294361|PMID:18299955|PMID:18321666|PMID:18346471|PMID:18394115|PMID:18447256|PMID:18493213|PMID:18538294|PMID:18590700|PMID:18592473|PMID:18798839|PMID:18937047|PMID:18937293|PMID:18956252|PMID:18985011|PMID:19015950|PMID:19036622|PMID:19062537|PMID:19099685|PMID:19147918|PMID:19292873|PMID:19394257|PMID:19444284|PMID:19609714|PMID:1968617|PMID:1971144|PMID:1971147|PMID:1975096|PMID:1975559|PMID:1978553|PMID:19786003|PMID:1981599|PMID:19913839|PMID:19915519|PMID:19948162|PMID:1997387|PMID:1998345|PMID:20017307|PMID:2006152|PMID:20063067|PMID:20082265|PMID:20123475|PMID:2014036|PMID:20140859|PMID:2014802|PMID:20179079|PMID:2018035|PMID:20187763|PMID:20188615|PMID:20301677|PMID:2035532|PMID:2044609|PMID:20457534|PMID:2063869|PMID:2071149|PMID:20920871|PMID:20937381|PMID:21147011|PMID:21154324|PMID:21228398|PMID:21307867|PMID:21445337|PMID:21462123|PMID:21527427|PMID:2173030|PMID:21811977|PMID:21820508|PMID:21871829|PMID:21890392|PMID:21915151|PMID:21937252|PMID:21953985|PMID:22106832|PMID:22112818|PMID:22300847|PMID:22330942|PMID:22333022|PMID:22388642|PMID:22391997|PMID:22513348|PMID:22526846|PMID:22698810|PMID:22763404|PMID:22841515|PMID:22917871|PMID:22921945|PMID:22975760|PMID:22995991|PMID:23062575|PMID:23074961|PMID:2309142|PMID:23220018|PMID:23225039|PMID:2323773|PMID:23271928|PMID:23348723|PMID:23352163|PMID:23357515|PMID:23430547|PMID:23430859|PMID:23430918|PMID:23500595|PMID:23514811|PMID:23559577|PMID:23690520|PMID:23716935|PMID:23757202|PMID:23764561|PMID:23792259|PMID:23842451|PMID:23856132|PMID:23932990|PMID:23942198|PMID:24033266|PMID:24048906|PMID:24078561|PMID:24130151|PMID:24190797|PMID:24296287|PMID:24301756|PMID:24304607|PMID:24327145|PMID:24350308|PMID:24368688|PMID:24401910|PMID:24510552|PMID:24510568|PMID:24628256|PMID:24661517|PMID:24667082|PMID:24705691|PMID:24765287|PMID:24789341|PMID:24882081 12136798 PAH phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Folling disease | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria PMID:24939588|PMID:24941924|PMID:25003100|PMID:25085675|PMID:25087612|PMID:25155776|PMID:25323746|PMID:25333069|PMID:25453233|PMID:25456745|PMID:25525159|PMID:25550961|PMID:25551302|PMID:25563416|PMID:25596310|PMID:25640679|PMID:2564729|PMID:2574002|PMID:2574153|PMID:25741868|PMID:2575001|PMID:25750018|PMID:25757997|PMID:25863075|PMID:25882749|PMID:2589491|PMID:25894915|PMID:25920592|PMID:25952249|PMID:2606484|PMID:2615649|PMID:26206375|PMID:26210745|PMID:26322415|PMID:26351554|PMID:26413448|PMID:26467025|PMID:26481238|PMID:26503515|PMID:26542770|PMID:26589311|PMID:26600521|PMID:26655635|PMID:26666653|PMID:26701937|PMID:26803807|PMID:26982749|PMID:26990548|PMID:27121329|PMID:27175306|PMID:27243974|PMID:27264808|PMID:27308838|PMID:27413125|PMID:27469133|PMID:27578510|PMID:27620137|PMID:27623981|PMID:27682710|PMID:27760515|PMID:2816939|PMID:28174686|PMID:28182360|PMID:28400091|PMID:2840952|PMID:28492532|PMID:28653649|PMID:28676969|PMID:28754886|PMID:28771436|PMID:2884570|PMID:28851938|PMID:28915855|PMID:28982351|PMID:29025426|PMID:29032371|PMID:29144512|PMID:29176022|PMID:29288420|PMID:29316886|PMID:29317692|PMID:29390883|PMID:29413232|PMID:29473999|PMID:29499199|PMID:29653233|PMID:29654578|PMID:29684050|PMID:29731766|PMID:29749107|PMID:29892150|PMID:29997390|PMID:30037505|PMID:30050108|PMID:30067850|PMID:3008810|PMID:30159852|PMID:30275481|PMID:30311390|PMID:30367646|PMID:30389586|PMID:30459323|PMID:30487145|PMID:30612563|PMID:30626930|PMID:30648773|PMID:30667134|PMID:30668579|PMID:30674554|PMID:30747360|PMID:30829006|PMID:30838026|PMID:30887117|PMID:30904546|PMID:3093157|PMID:30963030|PMID:31102715|PMID:31130284|PMID:31164572|PMID:31178897|PMID:31208052|PMID:31332730|PMID:31355225|PMID:31445982|PMID:31589614|PMID:31623983|PMID:31640267|PMID:31737040|PMID:31980526|PMID:32039316|PMID:32106880|PMID:32533790|PMID:32668217|PMID:32778825|PMID:32801363|PMID:32860008|PMID:32893076|PMID:32905092|PMID:32906206|PMID:33101986|PMID:33116287|PMID:33177615|PMID:33375644|PMID:33465300|PMID:33564846|PMID:33677757|PMID:33803550|PMID:33980295|PMID:34039861|PMID:34828281|PMID:35079019|PMID:35281663|PMID:35339094|PMID:35405047|PMID:35690318|PMID:3615198|PMID:7545869|PMID:7556322|PMID:7581408|PMID:7668259|PMID:7707686|PMID:7726156|PMID:7741023|PMID:7766951|PMID:7766957|PMID:7807961|PMID:7833927|PMID:7833954|PMID:7844887|PMID:7844888|PMID:7860062|PMID:7913581|PMID:7914195|PMID:7915167|PMID:7981714|PMID:8019568|PMID:8051931|PMID:8068076|PMID:8069318|PMID:8088845|PMID:8095248|PMID:8097261|PMID:8097262|PMID:8097423|PMID:8098245|PMID:8116675|PMID:8222245|PMID:8268925|PMID:8304187|PMID:8320703|PMID:8364546|PMID:8364593|PMID:8370573|PMID:8401510|PMID:8406445|PMID:8445621|PMID:8487271|PMID:8528673|PMID:8533759|PMID:8535444|PMID:8535445|PMID:8556304|PMID:8592329|PMID:8632937|PMID:8659548|PMID:8682503|PMID:8739972|PMID:8807319|PMID:8807331|PMID:8825928|PMID:8829656|PMID:8830172|PMID:8831077|PMID:8860005|PMID:8889583|PMID:8889590|PMID:8981952|PMID:8990013|PMID:8990021|PMID:9012412|PMID:9048935|PMID:9101291|PMID:9169088|PMID:9254847|PMID:9284280|PMID:9298832|PMID:9359039|PMID:9380432|PMID:9391881|PMID:9399840|PMID:9399896|PMID:9429153|PMID:9450182|PMID:9450897|PMID:9452061|PMID:9452062|PMID:9521426|PMID:9536098|PMID:9540801|PMID:9575658|PMID:9600453|PMID:9634518|PMID:9642259|PMID:9781015|PMID:9792411|PMID:9799096|PMID:9825986|PMID:9843368|PMID:9860305|PMID:9949232|PMID:9950317 12136815 HNRNPDL heterogeneous nuclear ribonucleoprotein D like gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1320569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 12136815 HNRNPDL heterogeneous nuclear ribonucleoprotein D like gene DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 ISO RGD:1320569 D RGD:7240710 20180130 OMIM 12136815 HNRNPDL heterogeneous nuclear ribonucleoprotein D like gene DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 ISO RGD:1320569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1G PMID:15367920|PMID:17576681|PMID:24647604|PMID:25741868|PMID:28492532|PMID:30604053|PMID:33131168|PMID:9536098 12136815 HNRNPDL heterogeneous nuclear ribonucleoprotein D like gene DOID:630 genetic disease ISO RGD:1320569 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12136815 HNRNPDL heterogeneous nuclear ribonucleoprotein D like gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1320569 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0050908 myelodysplastic syndrome susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism: :66A>G(human) PMID:18774170|REF_RGD_ID:11075096 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0060060 non-Hodgkin lymphoma susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism: :66A>G(human) PMID:15159311|REF_RGD_ID:11531140 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0060668 anencephaly susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:point mutation:intron:c.-26+755C>A (rs326119) (human) PMID:26045171|REF_RGD_ID:11098877 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0080016 spina bifida ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism: :66A>G(human) PMID:12375236|REF_RGD_ID:1302512 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0080016 spina bifida susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism: :66A>G(human) PMID:12590188|REF_RGD_ID:5508199 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0112255 homocystinuria-megaloblastic anemia cblE type ISO RGD:1318580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE PMID:10444342|PMID:10484769|PMID:10500018|PMID:10930360|PMID:12375236|PMID:12555939|PMID:12923861|PMID:12971424|PMID:15292234|PMID:15494741|PMID:15714522|PMID:15979034|PMID:16199547|PMID:17576681|PMID:20120036|PMID:22887477|PMID:24033266|PMID:25227144|PMID:25526710|PMID:25741868|PMID:25978498|PMID:28492532|PMID:2860337|PMID:30041674|PMID:31063268|PMID:6700644|PMID:9501215|PMID:9536098 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0112255 homocystinuria-megaloblastic anemia cblE type susceptibility ISO RGD:1318580 D RGD:7240710 20230505 OMIM 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:114 heart disease ISO RGD:1318580 D RGD:9068941 20200609 RGD PMID:15612980|REF_RGD_ID:1581051 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:12336 male infertility ISO RGD:1318580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16861746 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:14250 Down syndrome ISO RGD:1318580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Down syndrome, susceptibility to PMID:10444342|PMID:10500018|PMID:10930360|PMID:12375236|PMID:12923861|PMID:15979034|PMID:25227144|PMID:25741868|PMID:28492532|PMID:9501215 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism: :1049A>G (human) PMID:21070756|REF_RGD_ID:5508183 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:1681 heart septal defect ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs326119(human) PMID:22179537|REF_RGD_ID:7244247 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:1793 pancreatic cancer ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism: :66A>G (human) PMID:18843018|REF_RGD_ID:2317118 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:SNPs:intron, exon:rs162049, p.H595Y (rs10380) (human) PMID:18515090|REF_RGD_ID:2325772 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:3565 meningioma susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:SNP: :66A>G, (rs1801394) (human) PMID:18483342|REF_RGD_ID:5508186 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:630 genetic disease ISO RGD:1318580 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12555939|PMID:15714522|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:655 inherited metabolic disorder ISO RGD:1318580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:10444342|PMID:10484769|PMID:10500018|PMID:10930360|PMID:12375236|PMID:12555939|PMID:12923861|PMID:12971424|PMID:15292234|PMID:15494741|PMID:15714522|PMID:15979034|PMID:20120036|PMID:22887477|PMID:25227144|PMID:25741868|PMID:25978498|PMID:28492532|PMID:9501215 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:657 adenoma ISO RGD:1318580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17389618 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:SNP: :66A>G(human) PMID:19035314|REF_RGD_ID:14696707 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:8577 ulcerative colitis susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism: :66A>G (human) PMID:21947961|REF_RGD_ID:5508217 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:863 nervous system disease ISO RGD:1318580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:1318580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to PMID:10444342|PMID:10500018|PMID:10930360|PMID:12375236|PMID:12923861|PMID:15979034|PMID:25227144|PMID:25741868|PMID:28492532|PMID:9501215 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9001989 Folate-Sensitive Neural Tube Defects susceptibility ISO RGD:1318580 D RGD:7240710 20230505 OMIM 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9002165 Diabetic Nephropathies ISO RGD:1318580 D RGD:9068941 20200609 RGD Associated with Diabetes Mellitus, Type 1;DNA:SNP:cds:66A>G, (rs1801394) (human) PMID:18774994|REF_RGD_ID:6893652 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9006281 Temporomandibular Joint Disorders susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I22M (rs1801394)(human) PMID:21615938|REF_RGD_ID:5490535 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1318580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16985020|PMID:17389618 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism: :66A>G(human) PMID:18774170|REF_RGD_ID:11075096 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:10444342|PMID:10500018|PMID:10930360|PMID:12375236|PMID:12923861|PMID:15979034|PMID:25227144|PMID:25741868|PMID:28492532|PMID:9501215 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9263 homocystinuria ISO RGD:1318580 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Homocystinuria without methylmalonic aciduria PMID:10484769|PMID:15714522|PMID:24033266|PMID:25741868|PMID:28492532 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9279 hyperhomocysteinemia ISO RGD:1318580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16575899|PMID:17369066 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9538 multiple myeloma susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism: :66G>A(human) PMID:17655928|REF_RGD_ID:11075095 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1318580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17136115 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:SNP: :rs3776455(human) PMID:23940529|REF_RGD_ID:11531135 12136836 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:haplotype:cds: PMID:17136115|REF_RGD_ID:11531133 12136864 TUBA4A tubulin alpha 4a gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:1344170 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 PMID:25741868 12136864 TUBA4A tubulin alpha 4a gene DOID:0060355 amyotrophic lateral sclerosis type 22 ISO RGD:1344170 D RGD:7240710 20180130 OMIM 12136864 TUBA4A tubulin alpha 4a gene DOID:0060355 amyotrophic lateral sclerosis type 22 ISO RGD:1344170 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 22 with frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 22 PMID:25374358|PMID:25741868 12136864 TUBA4A tubulin alpha 4a gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1344170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12136864 TUBA4A tubulin alpha 4a gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1344170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12136864 TUBA4A tubulin alpha 4a gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1344170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12136864 TUBA4A tubulin alpha 4a gene DOID:1148 polydactyly ISO RGD:1344170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 12136864 TUBA4A tubulin alpha 4a gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1344170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12136864 TUBA4A tubulin alpha 4a gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1344170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12136864 TUBA4A tubulin alpha 4a gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12136875 NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1603947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12136875 NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit gene DOID:12177 common variable immunodeficiency ISO RGD:1603947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12136875 NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12136875 NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit gene DOID:2729 dyskeratosis congenita ISO RGD:1603947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12136875 NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1603947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12136875 NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit gene DOID:630 genetic disease ISO RGD:1603947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12136875 NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit gene DOID:9001540 Snijders Blok-Campeau Syndrome ISO RGD:1603947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome PMID:25741868 12136881 WWP2 WW domain containing E3 ubiquitin protein ligase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1320797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12136881 WWP2 WW domain containing E3 ubiquitin protein ligase 2 gene DOID:0112288 spondyloepiphyseal dysplasia Nishimura type ISO RGD:1320797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, nishimura type PMID:30804514 12136881 WWP2 WW domain containing E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1320797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136881 WWP2 WW domain containing E3 ubiquitin protein ligase 2 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1320797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 12136920 ASL argininosuccinate lyase gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:731559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C PMID:25741868|PMID:34008892 12136920 ASL argininosuccinate lyase gene DOID:12803 Sly syndrome ISO RGD:731559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sly syndrome PMID:19224584|PMID:28492532 12136920 ASL argininosuccinate lyase gene DOID:14755 argininosuccinic aciduria ISO RGD:731559 D RGD:7240710 20180130 OMIM 12136920 ASL argininosuccinate lyase gene DOID:14755 argininosuccinic aciduria ISO RGD:731559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency | ClinVar Annotator: match by term: Argininosuccinic Aciduria PMID:10896281|PMID:11698398|PMID:11747432|PMID:11747433|PMID:12384776|PMID:12408190|PMID:15164414|PMID:15273245|PMID:16199547|PMID:16435180|PMID:16941645|PMID:1705937|PMID:17326097|PMID:17551924|PMID:17576681|PMID:18042262|PMID:18616627|PMID:19224584|PMID:19703900|PMID:20236848|PMID:20298553|PMID:21290785|PMID:21667091|PMID:21710918|PMID:21744316|PMID:22081021|PMID:22231378|PMID:22541557|PMID:2263616|PMID:23430928|PMID:24033266|PMID:24136197|PMID:24166829|PMID:24516753|PMID:24927999|PMID:25087612|PMID:25433810|PMID:25525159|PMID:25741868|PMID:25778938|PMID:26661037|PMID:26745957|PMID:26843370|PMID:27515243|PMID:28251416|PMID:28492532|PMID:28600779|PMID:29326055|PMID:29493581|PMID:29773863|PMID:30285816|PMID:31030429|PMID:31056765|PMID:31130284|PMID:31156699|PMID:31183366|PMID:31426867|PMID:31515792|PMID:31589614|PMID:31709144|PMID:31943503|PMID:31980526|PMID:31990680|PMID:32778825|PMID:33373331|PMID:33514801|PMID:33611823|PMID:33851512|PMID:34405919|PMID:705937|PMID:9045711|PMID:9256435|PMID:9536098|PMID:9686346 12136920 ASL argininosuccinate lyase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12136920 ASL argininosuccinate lyase gene DOID:630 genetic disease ISO RGD:731559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11747432|PMID:17551924|PMID:18042262|PMID:20236848|PMID:24166829|PMID:25741868|PMID:25778938|PMID:26661037|PMID:28251416|PMID:28492532|PMID:29493581|PMID:30285816|PMID:31056765|PMID:31943503|PMID:34405919 12136920 ASL argininosuccinate lyase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731559 D RGD:9068941 20220616 RGD associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 12136920 ASL argininosuccinate lyase gene DOID:9002669 Hypoxia ISO RGD:619974 D RGD:9068941 20200609 RGD protein:increased activity:brain (rat) PMID:20567615|REF_RGD_ID:4110824 12136920 ASL argininosuccinate lyase gene DOID:9004009 Reperfusion Injury resistance ISO RGD:619974 D RGD:9068941 20200609 RGD protein:increased expression:brain, neuron (rat) PMID:17198704|REF_RGD_ID:1599263 12136920 ASL argininosuccinate lyase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731559 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:12384776|PMID:16941645|PMID:1705937|PMID:21710918|PMID:24166829|PMID:25741868|PMID:28492532|PMID:31943503|PMID:9045711 12136920 ASL argininosuccinate lyase gene DOID:9005930 Endotoxemia ISO RGD:619974 D RGD:9068941 20200609 RGD PMID:10652239|REF_RGD_ID:1599265 12136920 ASL argininosuccinate lyase gene DOID:9007480 Hyperoxia ISO RGD:619974 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:20805789|REF_RGD_ID:4142785 12136920 ASL argininosuccinate lyase gene DOID:9007874 Liver Failure ISO RGD:619974 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:11779202|REF_RGD_ID:70249 12136920 ASL argininosuccinate lyase gene DOID:9252 amino acid metabolic disorder ISO RGD:731559 D RGD:9068941 20200609 RGD Argininosuccinic Aciduria; DNA:mutations:multiple (human) PMID:2263616|REF_RGD_ID:734610 12136920 ASL argininosuccinate lyase gene DOID:9352 type 2 diabetes mellitus ISO RGD:731559 D RGD:9068941 20200609 RGD mRNA:increased expression:leukocyte PMID:16121806|REF_RGD_ID:2314010 12136942 ZMAT1 zinc finger matrin-type 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12136942 ZMAT1 zinc finger matrin-type 1 gene DOID:12849 autistic disorder ISO RGD:1345896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12136942 ZMAT1 zinc finger matrin-type 1 gene DOID:630 genetic disease ISO RGD:1345896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12136978 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:732554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12136978 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:732554 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12136978 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0080102 congenital fiber-type disproportion ISO RGD:732554 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:14972325|PMID:16503651|PMID:17698786|PMID:25617006|PMID:25741868|PMID:28492532|PMID:29480215|PMID:33250842 12136978 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0080718 GNE myopathy ISO RGD:732554 D RGD:7240710 20180130 OMIM 12136978 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0080718 GNE myopathy ISO RGD:732554 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GNE myopathy | ClinVar Annotator: match by term: Inclusion body myopathy 2 | ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing PMID:10330343|PMID:10356312|PMID:11326336|PMID:11528398|PMID:11916006|PMID:12177386|PMID:12325084|PMID:12409274|PMID:12473753|PMID:12473769|PMID:12473780|PMID:12497639|PMID:12743242|PMID:12811782|PMID:12913203|PMID:14678807|PMID:14707127|PMID:14733962|PMID:14733963|PMID:14972325|PMID:15136692|PMID:15146476|PMID:15147877|PMID:15330759|PMID:15670773|PMID:15793292|PMID:15834044|PMID:15987957|PMID:16112887|PMID:16199547|PMID:16372135|PMID:16503389|PMID:16503651|PMID:16810679|PMID:17098358|PMID:17164266|PMID:17261181|PMID:17576681|PMID:17698786|PMID:17704511|PMID:17706199|PMID:17718674|PMID:18383535|PMID:18555875|PMID:19078806|PMID:19596068|PMID:19841673|PMID:19917666|PMID:20030229|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301343|PMID:20301439|PMID:20346669|PMID:21131200|PMID:21294420|PMID:21307865|PMID:21436238|PMID:21517694|PMID:21708040|PMID:21873062|PMID:21910480|PMID:22196754|PMID:22231866|PMID:22322304|PMID:22343627|PMID:22507750|PMID:22855677|PMID:22883483|PMID:23127962|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23549799|PMID:23558691|PMID:23806237|PMID:24005727|PMID:24027297|PMID:2402797|PMID:24033266|PMID:24136589|PMID:24474513|PMID:24695763|PMID:24707269|PMID:24737350|PMID:2473753|PMID:24796702|PMID:25046369|PMID:25061177|PMID:25123033|PMID:25182749|PMID:25257349|PMID:25303967|PMID:25422667|PMID:25590979|PMID:25617006|PMID:25640679|PMID:25741868|PMID:25966635|PMID:25978849|PMID:25986339|PMID:26053703|PMID:26161358|PMID:26231298|PMID:26467025|PMID:26627873|PMID:26968811|PMID:26980148|PMID:27363342|PMID:27457812|PMID:27479822|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:27966821|PMID:2808337|PMID:28099567|PMID:28320138|PMID:28403181|PMID:28492532|PMID:28641925|PMID:28717665|PMID:28895049|PMID:29305133|PMID:29307446|PMID:29406958|PMID:29480215|PMID:29941673|PMID:29997562|PMID:30112071|PMID:30160005|PMID:30390020|PMID:30467490|PMID:30842975|PMID:30990900|PMID:31064749|PMID:31167812|PMID:31286697|PMID:32053088|PMID:32505938|PMID:32935436|PMID:33031330|PMID:33214394|PMID:33250842|PMID:5182749|PMID:9536098 12136978 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0080942 anauxetic dysplasia ISO RGD:732554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12136978 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:732554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12136978 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:732554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12136978 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:1588 thrombocytopenia ISO RGD:732554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:24796702|PMID:25741868|PMID:26980148|PMID:28320138|PMID:28492532|PMID:31064749 12136978 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:1826 epilepsy ISO RGD:732554 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12136978 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3429 inclusion body myositis ISO RGD:732554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inclusion body myositis PMID:25741868 12136978 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3659 sialuria ISO RGD:732554 D RGD:7240710 20180130 OMIM 12136978 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3659 sialuria ISO RGD:732554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria PMID:10330343|PMID:10356312|PMID:11326336|PMID:11528398|PMID:12325084|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:16810679|PMID:18555875|PMID:19917666|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301439|PMID:21294420|PMID:21436238|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:22507750|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23549799|PMID:23806237|PMID:24005727|PMID:24027297|PMID:24033266|PMID:2443758|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25002140|PMID:25123033|PMID:25182749|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:8439453 12136978 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3659 sialuria ISO RGD:732554 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type PMID:10330343|PMID:11326336|PMID:11528398|PMID:12325084|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:16810679|PMID:17576681|PMID:18555875|PMID:19917666|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301439|PMID:21294420|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23806237|PMID:24005727|PMID:24027297|PMID:24033266|PMID:2443758|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25002140|PMID:25123033|PMID:25182749|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:8439453|PMID:9536098 12136978 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3659 sialuria ISO RGD:732554 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type PMID:10330343|PMID:11326336|PMID:11528398|PMID:12325084|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:16810679|PMID:17576681|PMID:18555875|PMID:19917666|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301343|PMID:20301439|PMID:21294420|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23806237|PMID:24005727|PMID:24027297|PMID:24033266|PMID:2443758|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25002140|PMID:25123033|PMID:25182749|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:8439453|PMID:9536098 12136978 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3659 sialuria ISO RGD:732554 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria PMID:10330343|PMID:11326336|PMID:11528398|PMID:12325084|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:16810679|PMID:17576681|PMID:18555875|PMID:19917666|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301343|PMID:20301439|PMID:21294420|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23806237|PMID:24005727|PMID:24027297|PMID:24033266|PMID:2443758|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25123033|PMID:25182749|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:8439453|PMID:9536098 12136978 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3659 sialuria ISO RGD:732554 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sialuria PMID:10330343|PMID:10356312|PMID:11326336|PMID:11528398|PMID:12325084|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:16810679|PMID:17576681|PMID:18555875|PMID:19917666|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301343|PMID:20301439|PMID:21294420|PMID:21436238|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:22507750|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23806237|PMID:24005727|PMID:24027297|PMID:24033266|PMID:2443758|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25123033|PMID:25182749|PMID:25590979|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:8439453|PMID:9536098 12136978 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:630 genetic disease ISO RGD:732554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10330343|PMID:11326336|PMID:17576681|PMID:19917666|PMID:20301343|PMID:2443758|PMID:28492532|PMID:9536098 12136978 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:9001727 French Type Sialuria ISO RGD:732554 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sialuria, French type PMID:11528398|PMID:12497639|PMID:17576681|PMID:20175955|PMID:21708040|PMID:24005727|PMID:25182749|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 12136978 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:732554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12136978 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:9562 primary ciliary dyskinesia ISO RGD:732554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12136978 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:9870 galactosemia ISO RGD:732554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10338089|PMID:10559219|PMID:11318841|PMID:11395395|PMID:11585851|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12364426|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:1422196|PMID:14692646|PMID:14715863|PMID:15111507|PMID:15115830|PMID:15292329|PMID:15504982|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15784703|PMID:15797964|PMID:15855351|PMID:15886397|PMID:15998776|PMID:16123337|PMID:16166157|PMID:16357843|PMID:16403845|PMID:16416420|PMID:16455067|PMID:16731837|PMID:16885549|PMID:17021801|PMID:17257281|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17490422|PMID:17491708|PMID:17652641|PMID:17673911|PMID:17728498|PMID:17823772|PMID:18250167|PMID:18414213|PMID:18556340|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19372376|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20049716|PMID:20301620|PMID:20424228|PMID:20589481|PMID:20642364|PMID:20685672|PMID:20686794|PMID:20694718|PMID:21115269|PMID:21119644|PMID:21422196|PMID:21544516|PMID:21812132|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22311976|PMID:22471336|PMID:22512215|PMID:22591706|PMID:2270156|PMID:22701567|PMID:22704848|PMID:22768671|PMID:22831748|PMID:23226049|PMID:23275527|PMID:23320570|PMID:23345197|PMID:23652837|PMID:23667671|PMID:23950723|PMID:24018988|PMID:24068186|PMID:24434300|PMID:2462236|PMID:24622368|PMID:25201519|PMID:25247988|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26509005|PMID:26545876|PMID:26958039|PMID:27033559|PMID:27118464|PMID:27188453|PMID:27681997|PMID:27691052|PMID:27908292|PMID:28123437|PMID:28347637|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28925365|PMID:29439679|PMID:29893194|PMID:30297969|PMID:30377186|PMID:30386300|PMID:30663027|PMID:30873120|PMID:31291970|PMID:31464105|PMID:32027066|PMID:32101525|PMID:32893419|PMID:32935446|PMID:33324081|PMID:34566892|PMID:34737607|PMID:7847376|PMID:8897013|PMID:8923010|PMID:9356020|PMID:9867219 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:69098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15115830|PMID:15292329|PMID:15448107|PMID:15579791|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16123337|PMID:16455067|PMID:16670688|PMID:16731837|PMID:16885549|PMID:17021801|PMID:17257281|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17823772|PMID:18414213|PMID:18758683|PMID:18767144|PMID:19065048|PMID:19139106|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22768671|PMID:24068186|PMID:24150202|PMID:25555642|PMID:25678012|PMID:25739471|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26839896|PMID:26958039|PMID:27681997|PMID:28083968|PMID:28492532|PMID:29893194|PMID:32279225|PMID:32792356|PMID:32893419|PMID:32935446|PMID:33816067|PMID:34566892|PMID:9867219 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:69098 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:10049691|PMID:10559219|PMID:11318841|PMID:11395395|PMID:11585851|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12213829|PMID:12364426|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:1422196|PMID:14551916|PMID:14692646|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15115830|PMID:15292329|PMID:15448106|PMID:15448107|PMID:15504982|PMID:15531505|PMID:15561897|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15784703|PMID:15797964|PMID:15807877|PMID:15838686|PMID:15855351|PMID:15886397|PMID:16123337|PMID:16205880|PMID:16268330|PMID:16357843|PMID:16403845|PMID:16416420|PMID:16455067|PMID:16609879|PMID:16636122|PMID:16670688|PMID:16731833|PMID:16731837|PMID:16885549|PMID:16885550|PMID:17021801|PMID:17065345|PMID:17257281|PMID:17296510|PMID:17316607|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17652641|PMID:17673911|PMID:17728498|PMID:17823772|PMID:17901525|PMID:18073297|PMID:18250167|PMID:18290324|PMID:18414213|PMID:18436707|PMID:18556340|PMID:18662362|PMID:18758683|PMID:18767144|PMID:19065048|PMID:19139106|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19372376|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20220270|PMID:20301620|PMID:20424228|PMID:20466780|PMID:20642364|PMID:20685672|PMID:20686794|PMID:21115269|PMID:21119644|PMID:21340152|PMID:21352428|PMID:21422196|PMID:21544516|PMID:21765448|PMID:21812132|PMID:22005014|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22311976|PMID:22471336|PMID:22512215|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22749773|PMID:22768671|PMID:22831748|PMID:22958899|PMID:23226037|PMID:23226049|PMID:23275527|PMID:23320570|PMID:23345197|PMID:23652837|PMID:23950723|PMID:24018988|PMID:24068186|PMID:24150202|PMID:24421282|PMID:24622368|PMID:24686051|PMID:24698822|PMID:25201519|PMID:25247988|PMID:25308342|PMID:25555642|PMID:25637631|PMID:25741868|PMID:25871929|PMID:25972930|PMID:26388896|PMID:26448950|PMID:26467025|PMID:26740944|PMID:26839896|PMID:26958039|PMID:27118464|PMID:27173951|PMID:27181376|PMID:27681997|PMID:27691052|PMID:27908292|PMID:28083968|PMID:28123437|PMID:28262438|PMID:28270372|PMID:28352326|PMID:28442472|PMID:28480665|PMID:28492532|PMID:29361385|PMID:29893194|PMID:30286572|PMID:30377186|PMID:30663027|PMID:31218401|PMID:31291970|PMID:31464105|PMID:32027066|PMID:32279225|PMID:32418263|PMID:32792356|PMID:32893419|PMID:32935446|PMID:33046911|PMID:33324081|PMID:33409956|PMID:33816067|PMID:33853507|PMID:33987715|PMID:34566892|PMID:9831713|PMID:9867219 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0070218 familial hyperinsulinemic hypoglycemia 2 ISO RGD:69098 D RGD:7240710 20180912 OMIM 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0070218 familial hyperinsulinemic hypoglycemia 2 ISO RGD:69098 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2 PMID:10338089|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:14551916|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15115830|PMID:15504982|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:15998776|PMID:16416420|PMID:16455067|PMID:16670688|PMID:17257281|PMID:17316607|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17673911|PMID:17823772|PMID:18250167|PMID:18290324|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20032456|PMID:20049716|PMID:20301620|PMID:20424228|PMID:20589481|PMID:20685672|PMID:20694718|PMID:20980454|PMID:21115269|PMID:21119644|PMID:21422196|PMID:21765448|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22311976|PMID:22471336|PMID:22512215|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22958899|PMID:23226049|PMID:23275527|PMID:23345197|PMID:23700433|PMID:24434300|PMID:24698822|PMID:25247988|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:25871929|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26740944|PMID:27118464|PMID:27188453|PMID:27908292|PMID:28352326|PMID:28442472|PMID:28492532|PMID:28938416|PMID:29216354|PMID:29893194|PMID:30026763|PMID:30297969|PMID:30873120|PMID:31291970|PMID:31464105|PMID:32027066|PMID:32935446|PMID:33324081|PMID:33853507|PMID:34737607|PMID:35402560|PMID:7847376|PMID:8897013|PMID:8923010|PMID:9356020|PMID:9867219 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0070219 familial hyperinsulinemic hypoglycemia 1 ISO RGD:69098 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:15580558|PMID:15718250|PMID:16885549|PMID:17466004|PMID:18414213|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0080855 Parkinsonism ISO RGD:69247 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prefrontal cortex, striatum, hippocampus (rat) PMID:15857625|REF_RGD_ID:1598645 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69098 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:14871556|PMID:15111507|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:15998776|PMID:16455067|PMID:16670688|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:21573802|PMID:21765448|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22289434|PMID:22512215|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22958899|PMID:23275527|PMID:24401662|PMID:25555642|PMID:25741868|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26839896|PMID:27118464|PMID:28173619|PMID:28262438|PMID:28352326|PMID:28492532|PMID:28766502|PMID:29216354|PMID:29361385|PMID:29454299|PMID:29893194|PMID:31195986|PMID:32935446|PMID:33853507|PMID:34465386|PMID:34566892|PMID:35402560|PMID:9867219 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0111110 maturity-onset diabetes of the young type 13 ISO RGD:69098 D RGD:7240710 20180130 OMIM 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0111110 maturity-onset diabetes of the young type 13 ISO RGD:69098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MODY, TYPE 13 | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 13 PMID:10338089|PMID:11318841|PMID:11585851|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:14551916|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15115830|PMID:15504982|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15784703|PMID:15797964|PMID:15855351|PMID:16416420|PMID:16455067|PMID:16670688|PMID:17021801|PMID:17257281|PMID:17316607|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17490422|PMID:17673911|PMID:17823772|PMID:18250167|PMID:18290324|PMID:18414213|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:20685672|PMID:21054355|PMID:21115269|PMID:21119644|PMID:21210267|PMID:21765448|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22311976|PMID:22471336|PMID:22512215|PMID:22591706|PMID:2270156|PMID:22701567|PMID:22704848|PMID:22831748|PMID:22958899|PMID:23275527|PMID:23345197|PMID:23667671|PMID:2462236|PMID:24622368|PMID:24698822|PMID:25247988|PMID:25637631|PMID:25741868|PMID:25871929|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26509005|PMID:26740944|PMID:27033559|PMID:27118464|PMID:28347637|PMID:28352326|PMID:28492532|PMID:28587604|PMID:28925365|PMID:29216354|PMID:29893194|PMID:30297969|PMID:31291970|PMID:32101525|PMID:32893419|PMID:32935446|PMID:33324081|PMID:33853507|PMID:34737607|PMID:35402560|PMID:8897013|PMID:9867219 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0112262 leucine-sensitive hypoglycemia of infancy ISO RGD:69098 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leucine-induced hypoglycemia PMID:16885549|PMID:17466004|PMID:25741868|PMID:28492532 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:1059 intellectual disability ISO RGD:69098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:10763 hypertension ISO RGD:69247 D RGD:9068941 20200609 RGD PMID:15964031|REF_RGD_ID:1598644 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:11446 sciatic neuropathy ISO RGD:69247 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion PMID:17108688|REF_RGD_ID:7297043 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:11716 prediabetes syndrome ISO RGD:69247 D RGD:9068941 20200609 RGD associated with Obesity;protein:decreased expression:hypothalamus PMID:18001323|REF_RGD_ID:2311538 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:11717 neonatal diabetes ISO RGD:69098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal diabetes mellitus PMID:10049691|PMID:10338089|PMID:12213829|PMID:12524280|PMID:15115830|PMID:15292329|PMID:15448106|PMID:15448107|PMID:15504982|PMID:15531505|PMID:15561897|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15838686|PMID:16123337|PMID:16205880|PMID:16268330|PMID:16416420|PMID:16609879|PMID:16636122|PMID:16670688|PMID:16731833|PMID:16731837|PMID:16885550|PMID:17021801|PMID:17065345|PMID:17296510|PMID:17327377|PMID:17446535|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17673911|PMID:17901525|PMID:18414213|PMID:18436707|PMID:18662362|PMID:18767144|PMID:19065048|PMID:20220270|PMID:20301620|PMID:20466780|PMID:21352428|PMID:22471336|PMID:2270156|PMID:22701567|PMID:22749773|PMID:22768671|PMID:23667671|PMID:2462236|PMID:24622368|PMID:25308342|PMID:25555642|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26509005|PMID:26839896|PMID:26958039|PMID:27033559|PMID:27681997|PMID:28347637|PMID:28480665|PMID:28492532|PMID:28587604|PMID:28925365|PMID:32101525|PMID:32418263|PMID:32792356|PMID:32893419|PMID:33409956|PMID:33816067|PMID:33987715|PMID:34566892|PMID:8897013|PMID:9831713 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:11832 visual epilepsy ISO RGD:69247 D RGD:9068941 20200609 RGD PMID:18021373|REF_RGD_ID:2301911 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:13317 hyperinsulinemic hypoglycemia ISO RGD:69098 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia | ClinVar Annotator: match by term: Islet cell hyperplasia | ClinVar Annotator: match by term: Nesidioblastosis PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16455067|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532|PMID:29893194|PMID:32935446|PMID:9867219 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:1824 status epilepticus ISO RGD:69247 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:22050960|REF_RGD_ID:5686281 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:2018 hyperinsulinism ISO RGD:69098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:14871556|PMID:15111507|PMID:15115830|PMID:15448106|PMID:15504982|PMID:15531505|PMID:15579791|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15797964|PMID:15838686|PMID:15855351|PMID:16123337|PMID:16205880|PMID:16416420|PMID:16455067|PMID:16609879|PMID:16670688|PMID:16731837|PMID:16885549|PMID:16885550|PMID:17065345|PMID:17257281|PMID:17316607|PMID:17327377|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17823772|PMID:17901525|PMID:18414213|PMID:18596924|PMID:18662362|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20022885|PMID:20032456|PMID:20049716|PMID:20220270|PMID:20301620|PMID:20424228|PMID:20466780|PMID:20589481|PMID:20685672|PMID:20980454|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22471336|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22768671|PMID:23700433|PMID:24068186|PMID:24434300|PMID:24622368|PMID:24698822|PMID:25308342|PMID:25639667|PMID:25741868|PMID:25871929|PMID:26448950|PMID:26467025|PMID:26740944|PMID:26839896|PMID:26958039|PMID:27173951|PMID:27181376|PMID:27681997|PMID:28480665|PMID:28492532|PMID:28938416|PMID:29893194|PMID:32027066|PMID:32893419|PMID:32935446|PMID:33046911|PMID:33987715|PMID:9867219 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:3310 atopic dermatitis ISO RGD:69098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atopic eczema 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:630 genetic disease ISO RGD:69098 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15580558|PMID:15718250|PMID:18414213|PMID:18767144|PMID:21119644|PMID:22512215|PMID:22701567|PMID:23345197|PMID:24068186|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27173951|PMID:27181376|PMID:28492532|PMID:31291970|PMID:32935446|PMID:33046911 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9001250 Transient Neonatal Diabetes Mellitus, 3 ISO RGD:69098 D RGD:7240710 20180130 OMIM 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9001250 Transient Neonatal Diabetes Mellitus, 3 ISO RGD:69098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 3 PMID:10338089|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12364426|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:14551916|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15115830|PMID:15292329|PMID:15448106|PMID:15504982|PMID:15531505|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15784703|PMID:15797964|PMID:15807877|PMID:15838686|PMID:15855351|PMID:16123337|PMID:16205880|PMID:16416420|PMID:16455067|PMID:16609879|PMID:16670688|PMID:16731837|PMID:16885550|PMID:17021801|PMID:17065345|PMID:17257281|PMID:17316607|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17673911|PMID:17823772|PMID:17901525|PMID:18250167|PMID:18290324|PMID:18414213|PMID:18662362|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19372376|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20049716|PMID:20220270|PMID:20301620|PMID:20424228|PMID:20466780|PMID:20589481|PMID:20685672|PMID:21115269|PMID:21119644|PMID:21422196|PMID:21765448|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22289434|PMID:22311976|PMID:22471336|PMID:22512215|PMID:22591706|PMID:2270156|PMID:22701567|PMID:22704848|PMID:22768671|PMID:22831748|PMID:22958899|PMID:23275527|PMID:23320570|PMID:23345197|PMID:23667671|PMID:23950723|PMID:24018988|PMID:24421282|PMID:24434300|PMID:2462236|PMID:24622368|PMID:24686051|PMID:24698822|PMID:25247988|PMID:25308342|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:25871929|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26509005|PMID:26740944|PMID:26839896|PMID:26958039|PMID:27033559|PMID:27118464|PMID:27173951|PMID:27181376|PMID:27681997|PMID:27691052|PMID:27908292|PMID:28347637|PMID:28352326|PMID:28442472|PMID:28480665|PMID:28492532|PMID:28587604|PMID:28925365|PMID:29216354|PMID:29893194|PMID:30297969|PMID:31291970|PMID:32027066|PMID:32101525|PMID:32893419|PMID:32935446|PMID:33046911|PMID:33324081|PMID:33853507|PMID:33987715|PMID:34566892|PMID:34737607|PMID:35402560|PMID:8897013|PMID:9867219 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9002261 Permanent Neonatal Diabetes Mellitus 1 ISO RGD:69098 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus 1 PMID:15580558|PMID:15718250|PMID:25741868|PMID:26448950 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9002279 Permanent Neonatal Diabetes Mellitus 3 ISO RGD:69098 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 3 PMID:16885549|PMID:17466004|PMID:25741868|PMID:28492532 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:69099 D RGD:9068941 20200609 RGD PMID:18802029|REF_RGD_ID:7297042 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9005129 Transient Neonatal Diabetes Mellitus, 2 ISO RGD:69098 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 2 PMID:15580558|PMID:15718250|PMID:16885549|PMID:17466004|PMID:18414213|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69247 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:23785408|REF_RGD_ID:7296920 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9006009 Neonatal Hypoglycemia, Simulating Foetopathia Diabetica ISO RGD:69098 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neonatal hypoglycemia PMID:16609879|PMID:16885549|PMID:17446535|PMID:17466004|PMID:17635943|PMID:18073297|PMID:18414213|PMID:20301620|PMID:21340152|PMID:23226037|PMID:25741868|PMID:26388896|PMID:27223594|PMID:28492532|PMID:30286572 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:69247 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:21250976|REF_RGD_ID:7297045 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9006240 Permanent Neonatal Diabetes Mellitus 2 ISO RGD:69098 D RGD:7240710 20200520 OMIM 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9006240 Permanent Neonatal Diabetes Mellitus 2 ISO RGD:69098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 2 PMID:11872696|PMID:12475776|PMID:12524280|PMID:14871556|PMID:15115830|PMID:15292329|PMID:15448106|PMID:15448107|PMID:15531505|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15838686|PMID:15855351|PMID:16123337|PMID:16205880|PMID:16416420|PMID:16609879|PMID:16670688|PMID:16731837|PMID:16885550|PMID:17065345|PMID:17257281|PMID:17327377|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17652641|PMID:17728498|PMID:17901525|PMID:18073297|PMID:18414213|PMID:18662362|PMID:19065048|PMID:19139106|PMID:20022885|PMID:20220270|PMID:20301620|PMID:20466780|PMID:21340152|PMID:21765448|PMID:22512215|PMID:22768671|PMID:22958899|PMID:24622368|PMID:25247988|PMID:25308342|PMID:25555642|PMID:25741868|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26839896|PMID:26958039|PMID:27681997|PMID:28352326|PMID:28480665|PMID:28492532|PMID:30286572|PMID:32027066|PMID:32792356|PMID:32893419|PMID:33324081|PMID:33816067|PMID:33853507|PMID:33987715|PMID:34566892 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:69098 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16455067|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532|PMID:29893194|PMID:32935446|PMID:9867219 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9007102 Myocardial Ischemia ISO RGD:69247 D RGD:9068941 20200609 RGD PMID:26591689|REF_RGD_ID:12790977 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9007447 Developmental Delay, Epilepsy, and Neonatal Diabetes ISO RGD:69098 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: DEND syndrome PMID:15580558|PMID:15718250|PMID:25741868|PMID:26448950 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9007692 Insulin Resistance ISO RGD:69098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9032110 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69099 D RGD:9068941 20200609 RGD PMID:17906066|REF_RGD_ID:7297046 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9351 diabetes mellitus ISO RGD:69098 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:10338089|PMID:12524280|PMID:14715863|PMID:15115830|PMID:15292329|PMID:15504982|PMID:15562009|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15807877|PMID:16123337|PMID:16357843|PMID:16731837|PMID:17021801|PMID:17327377|PMID:17446535|PMID:17490422|PMID:18250167|PMID:18414213|PMID:18767144|PMID:20301620|PMID:20685672|PMID:21115269|PMID:21119644|PMID:22471336|PMID:2270156|PMID:22701567|PMID:22768671|PMID:23275527|PMID:23345197|PMID:23667671|PMID:24421282|PMID:2462236|PMID:24622368|PMID:24686051|PMID:25247988|PMID:25555642|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26509005|PMID:26839896|PMID:26958039|PMID:27033559|PMID:27681997|PMID:27908292|PMID:28270372|PMID:28347637|PMID:28492532|PMID:28587604|PMID:28766502|PMID:28787272|PMID:28925365|PMID:31218401|PMID:31291970|PMID:32027066|PMID:32101525|PMID:32893419|PMID:32935446|PMID:33324081|PMID:34566892|PMID:8897013 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69098 D RGD:7240710 20180130 OMIM 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69098 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:14871556|PMID:15111507|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:15998776|PMID:16455067|PMID:16670688|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:21573802|PMID:21765448|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22289434|PMID:22512215|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22958899|PMID:23275527|PMID:24401662|PMID:25555642|PMID:25741868|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26839896|PMID:27118464|PMID:28173619|PMID:28262438|PMID:28352326|PMID:28492532|PMID:28766502|PMID:29216354|PMID:29361385|PMID:29454299|PMID:29893194|PMID:31195986|PMID:32935446|PMID:33853507|PMID:34465386|PMID:34566892|PMID:35402560|PMID:9867219 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus PMID:12524280|PMID:15115830|PMID:15448106|PMID:15448107|PMID:15531505|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15838686|PMID:16123337|PMID:16205880|PMID:16416420|PMID:16609879|PMID:16670688|PMID:16731837|PMID:16885550|PMID:17065345|PMID:17327377|PMID:17446535|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17901525|PMID:18414213|PMID:18662362|PMID:19065048|PMID:20220270|PMID:20301620|PMID:20466780|PMID:22768671|PMID:24622368|PMID:25308342|PMID:25741868|PMID:26467025|PMID:26839896|PMID:26958039|PMID:27681997|PMID:28480665|PMID:28492532|PMID:29361385|PMID:32792356|PMID:32893419|PMID:33816067|PMID:33987715 12137000 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9993 hypoglycemia ISO RGD:69098 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:18596924|PMID:20032456|PMID:23700433|PMID:27908292|PMID:31464105 12137006 RUBCNL rubicon like autophagy enhancer gene DOID:10283 prostate cancer ISO RGD:1312654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12137006 RUBCNL rubicon like autophagy enhancer gene DOID:630 genetic disease ISO RGD:1312654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137032 SPEF1 sperm flagellar 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1322632 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12137032 SPEF1 sperm flagellar 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1322632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12137032 SPEF1 sperm flagellar 1 gene DOID:630 genetic disease ISO RGD:1322632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137032 SPEF1 sperm flagellar 1 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1322632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 12137050 TCF7L2 transcription factor 7 like 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1317786 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 12137050 TCF7L2 transcription factor 7 like 2 gene DOID:10283 prostate cancer ISO RGD:1317786 D RGD:9068941 20200609 RGD DNA:SNP: :rs7903146 (human) PMID:24961829|REF_RGD_ID:13506825 12137050 TCF7L2 transcription factor 7 like 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:1317786 D RGD:9068941 20200609 RGD DNA:SNPs: :rs7094463, rs10749127, rs11196224 (human) PMID:25678841|REF_RGD_ID:13506821 12137050 TCF7L2 transcription factor 7 like 2 gene DOID:1059 intellectual disability ISO RGD:1317786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12137050 TCF7L2 transcription factor 7 like 2 gene DOID:11714 gestational diabetes susceptibility ISO RGD:1317786 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:18984664|REF_RGD_ID:2312455 12137050 TCF7L2 transcription factor 7 like 2 gene DOID:12849 autistic disorder ISO RGD:1317786 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:34003604 12137050 TCF7L2 transcription factor 7 like 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12137050 TCF7L2 transcription factor 7 like 2 gene DOID:1612 breast cancer susceptibility ISO RGD:1317786 D RGD:9068941 20220526 RGD DNA:SNP: :rs7003146(human) PMID:24338422|REF_RGD_ID:152599188 12137050 TCF7L2 transcription factor 7 like 2 gene DOID:1793 pancreatic cancer ISO RGD:1317786 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 12137050 TCF7L2 transcription factor 7 like 2 gene DOID:299 adenocarcinoma ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892161 12137050 TCF7L2 transcription factor 7 like 2 gene DOID:630 genetic disease ISO RGD:1317786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137050 TCF7L2 transcription factor 7 like 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12137050 TCF7L2 transcription factor 7 like 2 gene DOID:9000528 Coronary Disease ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 12137050 TCF7L2 transcription factor 7 like 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1317786 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP (human) PMID:19506043|REF_RGD_ID:6906926 12137050 TCF7L2 transcription factor 7 like 2 gene DOID:9002211 Hyperalgesia ISO RGD:1317786 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:33607128 12137050 TCF7L2 transcription factor 7 like 2 gene DOID:9002221 Hyperplasia ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21383188 12137050 TCF7L2 transcription factor 7 like 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21383188 12137050 TCF7L2 transcription factor 7 like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868 12137050 TCF7L2 transcription factor 7 like 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12137050 TCF7L2 transcription factor 7 like 2 gene DOID:9006205 Animal Disease Models ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12137050 TCF7L2 transcription factor 7 like 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12137050 TCF7L2 transcription factor 7 like 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12137050 TCF7L2 transcription factor 7 like 2 gene DOID:9007692 Insulin Resistance ISO RGD:1317786 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:19509102|REF_RGD_ID:2312433 12137050 TCF7L2 transcription factor 7 like 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892161|PMID:24836286 12137050 TCF7L2 transcription factor 7 like 2 gene DOID:9256 colorectal cancer ISO RGD:1317786 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:25617745|REF_RGD_ID:13450926 12137050 TCF7L2 transcription factor 7 like 2 gene DOID:9351 diabetes mellitus ISO RGD:1317786 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:SNP (human) PMID:19585101|REF_RGD_ID:2312417 12137050 TCF7L2 transcription factor 7 like 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:16415884|PMID:17206141|PMID:17245407|PMID:17340123|PMID:17460697|PMID:17463248|PMID:17463249|PMID:17470138|PMID:17503332|PMID:17609304|PMID:17671651|PMID:18097733|PMID:19602480|PMID:20118932|PMID:21673050 12137050 TCF7L2 transcription factor 7 like 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1317786 D RGD:7240710 20230505 OMIM 12137068 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:0050908 myelodysplastic syndrome ISO RGD:1348038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24571310 12137068 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:0080199 colorectal carcinoma ISO RGD:1348038 D RGD:9068941 20200609 RGD PMID:14732230|REF_RGD_ID:1580058 12137068 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:10487 Hirschsprung's disease ISO RGD:1348038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29429387 12137068 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:2913 acute pancreatitis ISO RGD:1316582 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic acinar cell: PMID:19585519|REF_RGD_ID:9491843 12137068 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:3068 glioblastoma ISO RGD:1348038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19823589 12137068 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:3070 high grade glioma ISO RGD:1348038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23383216 12137068 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:3347 osteosarcoma ISO RGD:1348038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21311599 12137068 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1316582 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19585519|REF_RGD_ID:9491843 12137068 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1348038 D RGD:9068941 20200609 RGD protein:increased expression:exocrine pancreas: PMID:19585519|REF_RGD_ID:9491843 12137068 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348038 D RGD:9068941 20210416 RGD PMID:21165554|REF_RGD_ID:126781701 12137068 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:5176 renal Wilms' tumor ISO RGD:1348038 D RGD:9068941 20221103 RGD human tumor in mouse model PMID:18467665|REF_RGD_ID:155631277 12137068 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1348038 D RGD:9068941 20200609 RGD PMID:26919246|REF_RGD_ID:14928318 12137068 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9000918 Disease Progression ISO RGD:1348038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24571310 12137068 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9001865 Myeloid Leukemia, Accelerated Phase ISO RGD:1348038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24571310 12137068 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9003204 Neovascularization, Pathologic ISO RGD:1348038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23383216 12137068 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9004078 Pancreatic Intraepithelial Neoplasia ISO RGD:1316582 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic acinar cell: PMID:19585519|REF_RGD_ID:9491843 12137068 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9004078 Pancreatic Intraepithelial Neoplasia ISO RGD:1348038 D RGD:9068941 20200609 RGD protein:increased expression:exocrine pancreas: PMID:19585519|REF_RGD_ID:9491843 12137068 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9006190 Chronic Pancreatitis ISO RGD:1316582 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic acinar cell: PMID:19585519|REF_RGD_ID:9491843 12137068 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9006190 Chronic Pancreatitis ISO RGD:1348038 D RGD:9068941 20200609 RGD protein:increased expression:exocrine pancreas: PMID:19585519|REF_RGD_ID:9491843 12137068 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1316582 D RGD:9068941 20221103 RGD mRNA:altered expression:kidney (mouse) PMID:18467665|REF_RGD_ID:155631277 12137068 BMI1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9119 acute myeloid leukemia ISO RGD:1348038 D RGD:9068941 20200609 RGD PMID:16105758|REF_RGD_ID:1580059 12137088 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:0060041 autism spectrum disorder ISO RGD:737237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28492532|PMID:29034068 12137088 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:737237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12137088 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:737237 D RGD:7240710 20180130 OMIM 12137088 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:737237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 7 | ClinVar Annotator: match by term: Intellectual disability syndrome due to a DYRK1A point mutation PMID:16199547|PMID:17237124|PMID:17576681|PMID:18414213|PMID:21204217|PMID:21294719|PMID:23099646|PMID:23160955|PMID:23512985|PMID:24033266|PMID:24088041|PMID:25167861|PMID:25326635|PMID:25533962|PMID:25641759|PMID:25707398|PMID:25741868|PMID:25741883|PMID:25920557|PMID:25944381|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26795593|PMID:26922654|PMID:27241786|PMID:28053047|PMID:28167836|PMID:28191889|PMID:28191890|PMID:28492532|PMID:28496994|PMID:28708303|PMID:29034068|PMID:31130284|PMID:31785789|PMID:31803247|PMID:32555303|PMID:32581362|PMID:32860008|PMID:32959227|PMID:33004838|PMID:33624935|PMID:34008892|PMID:34253714|PMID:34345024|PMID:35598272|PMID:9536098 12137088 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:1059 intellectual disability ISO RGD:737237 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23099646|PMID:24088041|PMID:25167861|PMID:25326635|PMID:25641759|PMID:25707398|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26633545|PMID:28053047|PMID:28492532|PMID:29034068|PMID:32581362 12137088 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:1059 intellectual disability ISO RGD:737237 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:23099646|PMID:24088041|PMID:25167861|PMID:25326635|PMID:25641759|PMID:25707398|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26633545|PMID:28492532|PMID:32581362|PMID:9536098 12137088 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:1059 intellectual disability ISO RGD:737237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:23099646|PMID:24088041|PMID:25167861|PMID:25326635|PMID:25641759|PMID:25707398|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26633545|PMID:28053047|PMID:28492532|PMID:29034068|PMID:32581362|PMID:34345024|PMID:9536098 12137088 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:10629 microphthalmia ISO RGD:737237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25167861|PMID:25326635|PMID:25641759|PMID:25741868|PMID:25920557|PMID:25944381|PMID:28492532|PMID:32581362 12137088 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:10907 microcephaly ISO RGD:737237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25167861|PMID:25326635|PMID:25641759|PMID:25741868|PMID:25920557|PMID:25944381|PMID:28492532|PMID:32581362 12137088 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:11175 enophthalmos ISO RGD:737237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enophthalmos PMID:25167861|PMID:25326635|PMID:25641759|PMID:25741868|PMID:25920557|PMID:25944381|PMID:28492532|PMID:32581362 12137088 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:14250 Down syndrome ISO RGD:10495 D RGD:9068941 20220825 MouseDO OMIM:190685 12137088 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:14250 Down syndrome ISO RGD:737237 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:18696092|REF_RGD_ID:14974029 12137088 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:14250 Down syndrome treatment ISO RGD:10495 D RGD:9068941 20200609 RGD PMID:23220201|PMID:28647555|REF_RGD_ID:14973377|REF_RGD_ID:14974030 12137088 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:1793 pancreatic cancer ISO RGD:737237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31838052 12137088 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:1826 epilepsy ISO RGD:737237 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:18414213|PMID:25326635|PMID:25741868|PMID:25920557|PMID:28053047|PMID:28191890|PMID:28492532 12137088 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:1826 epilepsy ISO RGD:737237 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Generalized-onset seizure | ClinVar Annotator: match by term: Seizure PMID:18414213|PMID:25167861|PMID:25326635|PMID:25641759|PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28191890|PMID:28492532|PMID:29034068|PMID:32581362 12137088 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:630 genetic disease ISO RGD:737237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25167861|PMID:25326635|PMID:25641759|PMID:25707398|PMID:25730262|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26467025|PMID:26633542|PMID:26795593|PMID:28053047|PMID:28191889|PMID:28191890|PMID:28492532|PMID:28496994|PMID:31785789|PMID:32581362|PMID:33004838|PMID:34345024 12137088 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889|PMID:29942082 12137088 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:737237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:17576681|PMID:24088041|PMID:25326635|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26633545|PMID:26795593|PMID:26922654|PMID:27241786|PMID:28053047|PMID:28191889|PMID:28191890|PMID:28492532|PMID:32860008|PMID:33004838|PMID:9536098 12137088 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:9007 sudden infant death syndrome ISO RGD:737237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 12137088 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:9007956 Febrile Seizures susceptibility ISO RGD:10495 D RGD:9068941 20200609 RGD PMID:29223763|REF_RGD_ID:27095962 12137088 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:9008086 Developmental Disabilities ISO RGD:737237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25167861|PMID:25326635|PMID:25641759|PMID:25741868|PMID:25741883|PMID:25920557|PMID:25944381|PMID:28492532|PMID:32581362 12137104 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12137104 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1349923 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12137104 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1349923 D RGD:7240710 20180130 OMIM 12137104 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1349923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:12872255|PMID:16199547|PMID:17576681|PMID:18414213|PMID:22304930|PMID:22492991|PMID:22742743|PMID:22786653|PMID:23249953|PMID:23430862|PMID:23591138|PMID:23806237|PMID:24033266|PMID:24759841|PMID:25326635|PMID:25500013|PMID:25741868|PMID:26467025|PMID:28454995|PMID:28492532|PMID:28662078|PMID:28712839|PMID:30117111|PMID:30388443|PMID:31127727|PMID:31153949|PMID:31589614|PMID:33743358|PMID:9536098 12137104 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0080690 RASopathy ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 12137104 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12137104 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0110651 long QT syndrome 10 ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12137104 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1349923 D RGD:7240710 20180130 OMIM 12137104 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1349923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 13 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 PMID:12872255|PMID:16199547|PMID:17576681|PMID:18414213|PMID:22742743|PMID:22786653|PMID:23249953|PMID:23430862|PMID:23591138|PMID:23806237|PMID:24033266|PMID:24759841|PMID:25500013|PMID:25741868|PMID:26467025|PMID:28454995|PMID:28492532|PMID:28662078|PMID:28712839|PMID:30117111|PMID:30388443|PMID:31127727|PMID:31153949|PMID:31589614|PMID:33743358|PMID:9536098 12137104 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12137104 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12137104 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12137104 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12137104 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:3133 acute porphyria ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute Porphyria PMID:18414213|PMID:25741868|PMID:28492532 12137104 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1349923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12137104 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:3890 acute intermittent porphyria ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Porphyria, Swedish type PMID:18414213|PMID:25741868|PMID:28492532 12137104 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:12872255|PMID:18414213|PMID:22304930|PMID:22742743|PMID:23806237|PMID:25741868|PMID:28492532|PMID:30117111|PMID:31589614|PMID:33743358 12137104 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:5419 schizophrenia ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12137104 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:630 genetic disease ISO RGD:1349923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:22742743|PMID:23806237|PMID:25741868|PMID:28492532|PMID:30117111|PMID:31589614|PMID:33743358|PMID:9536098 12137104 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1349923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12137104 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:9000918 Disease Progression ISO RGD:1349923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12137104 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12137104 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:9007661 Dwarfism ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12137104 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1349923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 12137117 ZMAT2 zinc finger matrin-type 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1353598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12137117 ZMAT2 zinc finger matrin-type 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12137117 ZMAT2 zinc finger matrin-type 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12137117 ZMAT2 zinc finger matrin-type 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12137130 C14H1orf35 chromosome 14 C1orf35 homolog gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1312112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:28492532 12137130 C14H1orf35 chromosome 14 C1orf35 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1312112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12137130 C14H1orf35 chromosome 14 C1orf35 homolog gene DOID:630 genetic disease ISO RGD:1312112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137130 C14H1orf35 chromosome 14 C1orf35 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12137140 ATP6V0A1 ATPase H+ transporting V0 subunit a1 gene DOID:10283 prostate cancer ISO RGD:1605737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12137140 ATP6V0A1 ATPase H+ transporting V0 subunit a1 gene DOID:10485 esophageal atresia ISO RGD:1605737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12137140 ATP6V0A1 ATPase H+ transporting V0 subunit a1 gene DOID:12849 autistic disorder ISO RGD:1605737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:28135719|PMID:28492532|PMID:33833240|PMID:34909687 12137140 ATP6V0A1 ATPase H+ transporting V0 subunit a1 gene DOID:630 genetic disease ISO RGD:1605737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28135719|PMID:28492532|PMID:33833240|PMID:34909687 12137140 ATP6V0A1 ATPase H+ transporting V0 subunit a1 gene DOID:9001426 Developmental and Epileptic Encephalopathy 104 ISO RGD:1605737 D RGD:7240710 20220810 OMIM 12137140 ATP6V0A1 ATPase H+ transporting V0 subunit a1 gene DOID:9001426 Developmental and Epileptic Encephalopathy 104 ISO RGD:1605737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 104 PMID:25741868|PMID:28135719|PMID:28492532|PMID:33833240|PMID:34909687 12137140 ATP6V0A1 ATPase H+ transporting V0 subunit a1 gene DOID:9008086 Developmental Disabilities ISO RGD:1605737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28135719|PMID:28492532|PMID:33833240|PMID:34909687 12137140 ATP6V0A1 ATPase H+ transporting V0 subunit a1 gene DOID:9008621 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY ISO RGD:1605737 D RGD:7240710 20221214 OMIM 12137140 ATP6V0A1 ATPase H+ transporting V0 subunit a1 gene DOID:9008621 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY ISO RGD:1605737 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and brain atrophy PMID:15742102|PMID:33833240|PMID:34909687 12137188 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:0080141 mosaic variegated aneuploidy syndrome 1 ISO RGD:1316316 D RGD:7240710 20180130 OMIM 12137188 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:0080141 mosaic variegated aneuploidy syndrome 1 ISO RGD:1316316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 PMID:11169558|PMID:15475955|PMID:16199547|PMID:16411201|PMID:17576681|PMID:18548531|PMID:20516114|PMID:21190457|PMID:21520333|PMID:24033266|PMID:24728327|PMID:25502805|PMID:25640679|PMID:25741868|PMID:26822237|PMID:27239782|PMID:27331020|PMID:28492532|PMID:28591191|PMID:28767289|PMID:28976722|PMID:29625052|PMID:30512160|PMID:30716324|PMID:31053147|PMID:31738183|PMID:9521327|PMID:9536098|PMID:9916837 12137188 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:0080600 COVID-19 ISO RGD:1316316 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12137188 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:0080641 tongue carcinoma ISO RGD:1316316 D RGD:9068941 20200609 RGD associated with oral squamous cell carcinoma; protein:increased expression: oral mucosa squamous cell, cervical lymph node (human) PMID:20204288|REF_RGD_ID:27372889 12137188 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:0080688 mosaic variegated aneuploidy syndrome ISO RGD:1316316 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome PMID:24728327|PMID:25741868|PMID:28492532 12137188 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:10907 microcephaly ISO RGD:1316316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12137188 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:1520 colon carcinoma ISO RGD:1316316 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:24728327|PMID:25741868|PMID:28492532|PMID:9521327 12137188 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:1793 pancreatic cancer ISO RGD:1316316 D RGD:9068941 20200609 RGD protein:altered localization:pancreas PMID:17242465|REF_RGD_ID:2326105 12137188 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:1969 cerebral palsy ISO RGD:1316316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12137188 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:2394 ovarian cancer ISO RGD:1316316 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 12137188 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:2717 Bloom syndrome ISO RGD:1316316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12137188 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:3121 gallbladder cancer ISO RGD:1316316 D RGD:9068941 20200609 RGD mRNA:increased expression:gallbladder PMID:18497548|REF_RGD_ID:2324871 12137188 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1316316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15475955 12137188 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1316316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18691855 12137188 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:630 genetic disease ISO RGD:1316316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20516114|PMID:24728327|PMID:25502805|PMID:25741868|PMID:28492532|PMID:28591191|PMID:9536098 12137188 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:684 hepatocellular carcinoma ISO RGD:1316316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12137188 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:767 muscular atrophy ISO RGD:1316317 D RGD:9068941 20200609 RGD PMID:23792145|REF_RGD_ID:10059412 12137188 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1316316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28553959 12137188 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9006257 Growth Disorders ISO RGD:1316316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15475955 12137188 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9007183 Premature Chromatid Separation Trait ISO RGD:1316316 D RGD:7240710 20180130 OMIM 12137188 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9007183 Premature Chromatid Separation Trait ISO RGD:1316316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Premature chromatid separation trait PMID:11169558|PMID:15475955|PMID:16411201|PMID:18548531|PMID:20516114|PMID:21190457|PMID:25502805|PMID:25741868|PMID:28492532|PMID:28767289|PMID:29625052|PMID:30512160|PMID:31738183|PMID:9916837 12137188 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316316 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 12137188 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9008692 Aneuploidy susceptibility ISO RGD:1316316 D RGD:9068941 20200609 RGD DNA:missense mutation: ; mosaic variegated aneuploidy syndrome, OMIM:257300 PMID:15475955|REF_RGD_ID:1600540 12137188 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9256 colorectal cancer ISO RGD:1316316 D RGD:7240710 20200226 OMIM 12137188 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9256 colorectal cancer ISO RGD:1316316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:17576681|PMID:20516114|PMID:24728327|PMID:25741868|PMID:28492532|PMID:9536098 12137219 FABP4 fatty acid binding protein 4 gene DOID:1875 impotence ISO RGD:69309 D RGD:9068941 20200609 RGD associated with hypercholesterolemia;mRNA:increased expression:penis erectile tissue PMID:17137605|REF_RGD_ID:1625408 12137219 FABP4 fatty acid binding protein 4 gene DOID:2773 contact dermatitis ISO RGD:733453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12137219 FABP4 fatty acid binding protein 4 gene DOID:305 carcinoma ISO RGD:733453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12137219 FABP4 fatty acid binding protein 4 gene DOID:557 kidney disease ISO RGD:733453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30215792 12137219 FABP4 fatty acid binding protein 4 gene DOID:630 genetic disease ISO RGD:733453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137219 FABP4 fatty acid binding protein 4 gene DOID:767 muscular atrophy ISO RGD:69309 D RGD:9068941 20220224 RGD associated with microgravity; mRNA:increased expression:gastrocnemius (rat) PMID:14638460|REF_RGD_ID:151361116 12137219 FABP4 fatty acid binding protein 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12137219 FABP4 fatty acid binding protein 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12137219 FABP4 fatty acid binding protein 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69309 D RGD:9068941 20200609 RGD protein:decreased expresssion:fat cell PMID:9059981|REF_RGD_ID:1625411 12137219 FABP4 fatty acid binding protein 4 gene DOID:9006646 Metabolic Syndrome ISO RGD:733453 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16919044|REF_RGD_ID:1625406 12137219 FABP4 fatty acid binding protein 4 gene DOID:9007692 Insulin Resistance ISO RGD:69309 D RGD:9068941 20200609 RGD PMID:17391165|REF_RGD_ID:1625407 12137219 FABP4 fatty acid binding protein 4 gene DOID:9970 obesity ISO RGD:733454 D RGD:9068941 20200609 RGD PMID:8910278|REF_RGD_ID:737747 12137227 ERI2 ERI1 exoribonuclease family member 2 gene DOID:0080600 COVID-19 ISO RGD:1605306 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12137227 ERI2 ERI1 exoribonuclease family member 2 gene DOID:630 genetic disease ISO RGD:1605306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137241 SLC10A6 solute carrier family 10 member 6 gene DOID:630 genetic disease ISO RGD:1604951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137241 SLC10A6 solute carrier family 10 member 6 gene DOID:9008939 Breast Neoplasms ISO RGD:1604951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30186172 12137251 CA5A carbonic anhydrase 5A gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1347153 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12137251 CA5A carbonic anhydrase 5A gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1347153 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12137251 CA5A carbonic anhydrase 5A gene DOID:630 genetic disease ISO RGD:1347153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12137251 CA5A carbonic anhydrase 5A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12137251 CA5A carbonic anhydrase 5A gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1347153 D RGD:7240710 20180130 OMIM 12137251 CA5A carbonic anhydrase 5A gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1347153 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to PMID:17576681|PMID:24530203|PMID:25640679|PMID:25741868|PMID:25834911|PMID:26913920|PMID:28492532|PMID:31641285|PMID:32381389|PMID:33473334|PMID:9536098 12137251 CA5A carbonic anhydrase 5A gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1347153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12137262 TMEM65 transmembrane protein 65 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1603356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12137262 TMEM65 transmembrane protein 65 gene DOID:630 genetic disease ISO RGD:1603356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137262 TMEM65 transmembrane protein 65 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12137289 SLC7A6OS solute carrier family 7 member 6 opposite strand gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1602091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12137289 SLC7A6OS solute carrier family 7 member 6 opposite strand gene DOID:630 genetic disease ISO RGD:1602091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137289 SLC7A6OS solute carrier family 7 member 6 opposite strand gene DOID:9003808 Progressive Myoclonus Epilepsy 12 ISO RGD:1602091 D RGD:7240710 20210303 OMIM 12137289 SLC7A6OS solute carrier family 7 member 6 opposite strand gene DOID:9003808 Progressive Myoclonus Epilepsy 12 ISO RGD:1602091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12 PMID:25741868|PMID:33085104 12137289 SLC7A6OS solute carrier family 7 member 6 opposite strand gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1602091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized myoclonic seizures PMID:25741868|PMID:33085104 12137298 ARHGAP20 Rho GTPase activating protein 20 gene DOID:10283 prostate cancer ISO RGD:1350363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12137298 ARHGAP20 Rho GTPase activating protein 20 gene DOID:1059 intellectual disability ISO RGD:1350363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12137298 ARHGAP20 Rho GTPase activating protein 20 gene DOID:12704 ataxia telangiectasia ISO RGD:1350363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12137298 ARHGAP20 Rho GTPase activating protein 20 gene DOID:630 genetic disease ISO RGD:1350363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137298 ARHGAP20 Rho GTPase activating protein 20 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12137326 USF2 upstream transcription factor 2, c-fos interacting gene DOID:0110222 Brugada syndrome 5 ISO RGD:734370 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12137326 USF2 upstream transcription factor 2, c-fos interacting gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:734370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12137326 USF2 upstream transcription factor 2, c-fos interacting gene DOID:10283 prostate cancer ISO RGD:734370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12137326 USF2 upstream transcription factor 2, c-fos interacting gene DOID:543 dystonia ISO RGD:734370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12137326 USF2 upstream transcription factor 2, c-fos interacting gene DOID:630 genetic disease ISO RGD:734370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:0080600 COVID-19 disease_progression ISO RGD:730992 D RGD:9068941 20200618 RGD associated with diabetes mellitus PMID:32345579|REF_RGD_ID:30296681 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:0080600 COVID-19 severity ISO RGD:730992 D RGD:9068941 20200618 RGD PMID:32198776|PMID:32220650|REF_RGD_ID:30296673|REF_RGD_ID:30296674 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:0080600 COVID-19 severity ISO RGD:730992 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32365221|REF_RGD_ID:30310229 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:0080998 acute necrotizing pancreatitis resistance ISO RGD:2254 D RGD:9068941 20200609 RGD PMID:19684430|REF_RGD_ID:5684345 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:1059 intellectual disability ISO RGD:730992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:10763 hypertension ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1849535|PMID:9887042 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:11400 pyelonephritis ISO RGD:730992 D RGD:9068941 20200609 RGD PMID:15286264|REF_RGD_ID:7205498 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:11446 sciatic neuropathy ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19852068 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:11476 osteoporosis ISO RGD:730992 D RGD:9068941 20200609 RGD PMID:2502220|REF_RGD_ID:734677 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:11716 prediabetes syndrome ISO RGD:2254 D RGD:9068941 20200609 RGD protein:increased expression:penis erectile tissue PMID:19152794|REF_RGD_ID:2314033 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:12098 trigeminal neuralgia ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:12678 hypercalcemia ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1115441|PMID:12637657 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:12783 migraine without aura ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11304026|PMID:14659530 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:12849 autistic disorder ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11357950 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:14250 Down syndrome ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16289943 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:326 ischemia ISO RGD:2254 D RGD:9068941 20200609 RGD PMID:21181115|REF_RGD_ID:5684019 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:10274 D RGD:9068941 20200609 RGD PMID:21964254|REF_RGD_ID:5684010 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:3770 pulmonary fibrosis ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17365031 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:630 genetic disease ISO RGD:730992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:6364 migraine ISO RGD:730992 D RGD:9068941 20200609 RGD PMID:20959432|REF_RGD_ID:5684020 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:6364 migraine ISO RGD:730992 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:12574409|PMID:17635592|PMID:35115687 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:6364 migraine no_association ISO RGD:730992 D RGD:9068941 20200609 RGD PMID:21195698|REF_RGD_ID:5684017 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:6432 pulmonary hypertension ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1357980 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:76 stomach disease ISO RGD:2254 D RGD:9068941 20200609 RGD Cerebrovascular dysfunction (stroke) associated gastrointestinal injury model PMID:19900492|REF_RGD_ID:5684343 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:820 myocarditis ISO RGD:10274 D RGD:9068941 20200609 RGD PMID:15583078|REF_RGD_ID:7204487 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:8398 osteoarthritis ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16690336 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:9000070 Progressive Renal Failure with Hypertension ISO RGD:10274 D RGD:9068941 20200609 RGD PMID:15928032|REF_RGD_ID:7204486 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:9000197 Edema ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7508328 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15127121|PMID:16777450 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:9001579 Neurogenic Inflammation ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17961222 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:9001600 Wounds and Injuries ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18430544 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:9002211 Hyperalgesia ISO RGD:2254 D RGD:9068941 20200609 RGD associated with inflammation;protein:increased expression:dorsal root ganglion: PMID:21958434|REF_RGD_ID:8657122 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:9002211 Hyperalgesia ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12787826|PMID:12855330|PMID:15265675|PMID:27093858 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16222118 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:9002362 Hyperkinesis ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:6293644|PMID:6686863 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:9002457 Experimental Arthritis ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16690336 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis no_association ISO RGD:10274 D RGD:9068941 20200609 RGD PMID:19563774|REF_RGD_ID:5684360 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:9003805 Catalepsy ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6293644|PMID:6303368|PMID:6686863 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:9003870 Herpes Simplex Encephalitis treatment ISO RGD:2254 D RGD:9068941 20200609 RGD PMID:22761571|REF_RGD_ID:7240516 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:9005372 Inflammation ISO RGD:2254 D RGD:9068941 20200609 RGD protein:increased expression:hindpaw: PMID:21958434|REF_RGD_ID:8657122 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:9005372 Inflammation ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11588175 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2254 D RGD:9068941 20200609 RGD protein:decreased expression:dorsal root ganglion, neuron PMID:17151309|REF_RGD_ID:2314035 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2254 D RGD:9068941 20200609 RGD protein:increased expression:penis erectile tissue, seminal vesicle PMID:19152794|REF_RGD_ID:2314033 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:9006205 Animal Disease Models ISO RGD:730992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2254 D RGD:9068941 20200609 RGD PMID:19194162|REF_RGD_ID:7204479 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:10274 D RGD:9068941 20200609 RGD PMID:19816194|REF_RGD_ID:2314032 12137338 CRSP-3 calcitonin receptor-stimulating peptide 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2254 D RGD:9068941 20200609 RGD protein:decreased expression:dorsal root ganglion, neuron PMID:17151309|REF_RGD_ID:2314035 12137348 TMEM244 transmembrane protein 244 gene DOID:630 genetic disease ISO RGD:1606936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137357 ZBTB33 zinc finger and BTB domain containing 33 gene DOID:0050437 Danon disease ISO RGD:1351169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 12137357 ZBTB33 zinc finger and BTB domain containing 33 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12137357 ZBTB33 zinc finger and BTB domain containing 33 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1351169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 12137357 ZBTB33 zinc finger and BTB domain containing 33 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1351169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 12137357 ZBTB33 zinc finger and BTB domain containing 33 gene DOID:12849 autistic disorder ISO RGD:1351169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12137357 ZBTB33 zinc finger and BTB domain containing 33 gene DOID:630 genetic disease ISO RGD:1351169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137381 DTWD1 DTW domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1604324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12137381 DTWD1 DTW domain containing 1 gene DOID:630 genetic disease ISO RGD:1604324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137381 DTWD1 DTW domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1604324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12137398 SPIRE2 spire type actin nucleation factor 2 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1314110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12137398 SPIRE2 spire type actin nucleation factor 2 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1314110 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12137398 SPIRE2 spire type actin nucleation factor 2 gene DOID:13636 Fanconi anemia ISO RGD:1314110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:19367192|PMID:25741868|PMID:28492532|PMID:29098742|PMID:9721219 12137398 SPIRE2 spire type actin nucleation factor 2 gene DOID:630 genetic disease ISO RGD:1314110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137398 SPIRE2 spire type actin nucleation factor 2 gene DOID:6846 familial melanoma ISO RGD:1314110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:28492532 12137417 LDOC1 LDOC1 regulator of NFKB signaling gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12137417 LDOC1 LDOC1 regulator of NFKB signaling gene DOID:12849 autistic disorder ISO RGD:1344664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12137417 LDOC1 LDOC1 regulator of NFKB signaling gene DOID:630 genetic disease ISO RGD:1344664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137465 HNRNPR heterogeneous nuclear ribonucleoprotein R gene DOID:630 genetic disease ISO RGD:736504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16757948|PMID:26795593|PMID:28492532|PMID:31079900|PMID:9421497 12137465 HNRNPR heterogeneous nuclear ribonucleoprotein R gene DOID:9001294 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES ISO RGD:736504 D RGD:7240710 20221214 OMIM 12137465 HNRNPR heterogeneous nuclear ribonucleoprotein R gene DOID:9001294 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES ISO RGD:736504 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities PMID:16757948|PMID:26795593|PMID:31079900|PMID:9421497 12137465 HNRNPR heterogeneous nuclear ribonucleoprotein R gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:736504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12137465 HNRNPR heterogeneous nuclear ribonucleoprotein R gene DOID:9008939 Breast Neoplasms ISO RGD:736504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12137490 FLYWCH1 FLYWCH-type zinc finger 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1346259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12137490 FLYWCH1 FLYWCH-type zinc finger 1 gene DOID:1826 epilepsy ISO RGD:1346259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12137490 FLYWCH1 FLYWCH-type zinc finger 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1346259 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12137490 FLYWCH1 FLYWCH-type zinc finger 1 gene DOID:630 genetic disease ISO RGD:1346259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137515 MED11 mediator complex subunit 11 gene DOID:630 genetic disease ISO RGD:1606637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137528 LOC100688321 tumor necrosis factor receptor superfamily member 26-like gene DOID:630 genetic disease ISO RGD:1346827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137528 LOC100688321 tumor necrosis factor receptor superfamily member 26-like gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1346827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12137585 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1321051 D RGD:7240710 20180130 OMIM 12137585 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1321051 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:10024875|PMID:11809908|PMID:14566336|PMID:16199547|PMID:16507770|PMID:16537806|PMID:16551969|PMID:17576681|PMID:23265383|PMID:23403622|PMID:24033266|PMID:25741868|PMID:25980904|PMID:27781387|PMID:28492532|PMID:31898847|PMID:32935436|PMID:8042664|PMID:9536098 12137585 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:10283 prostate cancer ISO RGD:1321051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 12137585 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:1321051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12137585 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:1227 neutropenia ISO RGD:1321051 D RGD:9068941 20200609 RGD PMID:12125811|REF_RGD_ID:1578409 12137585 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:12800 mucopolysaccharidosis VI ISO RGD:1321051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 PMID:10036316|PMID:17458871|PMID:18486607|PMID:28492532 12137585 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:2213 hemorrhagic disease ISO RGD:1321051 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:32935436 12137585 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:2223 platelet storage pool deficiency ISO RGD:1321052 D RGD:9068941 20220825 MouseDO OMIM:185050 12137585 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1321051 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:24033266|PMID:25741868|PMID:28492532|PMID:31898847 12137585 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:3082 interstitial lung disease ISO RGD:1321051 D RGD:9068941 20200609 RGD associated with Hermansky-Pudlak Syndrome 2;DNA:snps, missense mutation, nonsense mutations:exons, introns:multiple (human) PMID:22009278|REF_RGD_ID:11096518 12137585 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1321051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:16507770|PMID:23403622|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31898847 12137585 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1321051 D RGD:9068941 20200609 RGD PMID:12125811|REF_RGD_ID:1578409 12137585 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:5339 cyclic hematopoiesis IAGP D RGD:12801476 20220824 OMIA Neutropenia, cyclic PMID:5581910|PMID:5054472|PMID:5054471|PMID:4796766|PMID:351627|PMID:6067150|PMID:4430726|PMID:5529685|PMID:347941|PMID:1893969|PMID:7474871|PMID:8737267|PMID:12897784|PMID:12750178|PMID:15576359|PMID:15059607|PMID:19941936|PMID:18951469|PMID:35904319|PMID:1167851|PMID:438337|PMID:6976196|PMID:22845776|PMID:22285163|PMID:19208418|PMID:17053055|PMID:16610934|PMID:7528575|PMID:7519075|PMID:1379221|PMID:1699776|PMID:2172633|PMID:3181344|PMID:2458781|PMID:2830927|PMID:2979797|PMID:3607647|PMID:3026784|PMID:3491636|PMID:2945680|PMID:3996494|PMID:6096876|PMID:6506453|PMID:6884440|PMID:6853718|PMID:6846503|PMID:6837566|PMID:6759148|PMID:7066210|PMID:6803622|PMID:7059519|PMID:7060078|PMID:7281477|PMID:6972315|PMID:7011123|PMID:7405719|PMID:7350939|PMID:738763|PMID:719169|PMID:738429|PMID:710550|PMID:568046|PMID:686147|PMID:336117|PMID:1013155|PMID:995965|PMID:955040|PMID:1259228|PMID:1251140|PMID:173440|PMID:127610|PMID:47249|PMID:4612548|PMID:4834515|PMID:4591036|PMID:4587264|PMID:4795953|PMID:4703853|PMID:5534257|PMID:5366324|PMID:4170467 12137585 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:630 genetic disease ISO RGD:1321051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12137585 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12137632 TAC1 tachykinin precursor 1 gene DOID:0060180 colitis ISO RGD:3807 D RGD:9068941 20200609 RGD PMID:18715640|REF_RGD_ID:2304260 12137632 TAC1 tachykinin precursor 1 gene DOID:0060500 drug allergy ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21233199 12137632 TAC1 tachykinin precursor 1 gene DOID:10124 corneal disease ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12824234 12137632 TAC1 tachykinin precursor 1 gene DOID:10914 amnestic disorder ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20600432|PMID:7562510|PMID:9521815 12137632 TAC1 tachykinin precursor 1 gene DOID:1205 allergic disease ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11160071 12137632 TAC1 tachykinin precursor 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:3807 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung PMID:10516226|REF_RGD_ID:5147822 12137632 TAC1 tachykinin precursor 1 gene DOID:12783 migraine without aura ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11304026 12137632 TAC1 tachykinin precursor 1 gene DOID:1470 major depressive disorder ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15845098 12137632 TAC1 tachykinin precursor 1 gene DOID:2841 asthma ISO RGD:619560 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11031342|REF_RGD_ID:5147836 12137632 TAC1 tachykinin precursor 1 gene DOID:3312 bipolar disorder ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15845098 12137632 TAC1 tachykinin precursor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:619560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12137632 TAC1 tachykinin precursor 1 gene DOID:4989 pancreatitis ISO RGD:11379 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, pancreas PMID:16369913|REF_RGD_ID:5147636 12137632 TAC1 tachykinin precursor 1 gene DOID:5419 schizophrenia ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15845098 12137632 TAC1 tachykinin precursor 1 gene DOID:630 genetic disease ISO RGD:619560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137632 TAC1 tachykinin precursor 1 gene DOID:6432 pulmonary hypertension ISO RGD:3807 D RGD:9068941 20200609 RGD PMID:12662901|REF_RGD_ID:5147638 12137632 TAC1 tachykinin precursor 1 gene DOID:8534 gastroesophageal reflux disease ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20616304 12137632 TAC1 tachykinin precursor 1 gene DOID:8986 narcolepsy ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17521418 12137632 TAC1 tachykinin precursor 1 gene DOID:9000197 Edema ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7508328 12137632 TAC1 tachykinin precursor 1 gene DOID:9000641 Pain ISO RGD:3807 D RGD:9068941 20200609 RGD PMID:17493276|REF_RGD_ID:2304337 12137632 TAC1 tachykinin precursor 1 gene DOID:9000641 Pain ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10445233|PMID:7694222 12137632 TAC1 tachykinin precursor 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16777450 12137632 TAC1 tachykinin precursor 1 gene DOID:9000784 Fibrosis ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28647476 12137632 TAC1 tachykinin precursor 1 gene DOID:9001109 Anorexia ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30336258 12137632 TAC1 tachykinin precursor 1 gene DOID:9001579 Neurogenic Inflammation ISO RGD:3807 D RGD:9068941 20200609 RGD PMID:18326823|REF_RGD_ID:2304321 12137632 TAC1 tachykinin precursor 1 gene DOID:9001579 Neurogenic Inflammation ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17257769|PMID:17961222|PMID:20138590|PMID:21570423|PMID:9291295 12137632 TAC1 tachykinin precursor 1 gene DOID:9002211 Hyperalgesia ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10499367|PMID:12351280|PMID:12787826|PMID:15626726|PMID:16259764|PMID:18234883|PMID:19231294|PMID:8864563|PMID:9714424 12137632 TAC1 tachykinin precursor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9259450 12137632 TAC1 tachykinin precursor 1 gene DOID:9003132 Sialorrhea ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8938667 12137632 TAC1 tachykinin precursor 1 gene DOID:9004610 Acute Lung Injury ISO RGD:11379 D RGD:9068941 20200609 RGD PMID:19797759|REF_RGD_ID:5147812 12137632 TAC1 tachykinin precursor 1 gene DOID:9005236 Drug Eruptions ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1371395 12137632 TAC1 tachykinin precursor 1 gene DOID:9005372 Inflammation ISO RGD:3807 D RGD:9068941 20200609 RGD protein:increased expression:neuron PMID:18053315|REF_RGD_ID:2304327 12137632 TAC1 tachykinin precursor 1 gene DOID:9005372 Inflammation ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14499429|PMID:21294877|PMID:30116771|PMID:8880065 12137632 TAC1 tachykinin precursor 1 gene DOID:9005968 Neuralgia ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18400411 12137632 TAC1 tachykinin precursor 1 gene DOID:9006024 Hypotension ISO RGD:3807 D RGD:9068941 20200609 RGD PMID:18337316|REF_RGD_ID:2304320 12137632 TAC1 tachykinin precursor 1 gene DOID:9006024 Hypotension ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20138590|PMID:2445440 12137632 TAC1 tachykinin precursor 1 gene DOID:9006202 Pruritus ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19652466 12137632 TAC1 tachykinin precursor 1 gene DOID:9007001 Bradycardia ISO RGD:3807 D RGD:9068941 20200609 RGD PMID:2471579|REF_RGD_ID:2305984 12137632 TAC1 tachykinin precursor 1 gene DOID:9007001 Bradycardia ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2445440|PMID:8960879 12137632 TAC1 tachykinin precursor 1 gene DOID:9007730 Burns ISO RGD:11379 D RGD:9068941 20200609 RGD protein:increased expression:plasma, lung PMID:19797759|REF_RGD_ID:5147812 12137632 TAC1 tachykinin precursor 1 gene DOID:9008385 Vomiting ISO RGD:619560 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31738934 12137632 TAC1 tachykinin precursor 1 gene DOID:9008511 Extravasation of Diagnostic and Therapeutic Materials ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8938667|PMID:9622145 12137632 TAC1 tachykinin precursor 1 gene DOID:9009039 Hyperemia ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10564113|PMID:7507874 12137632 TAC1 tachykinin precursor 1 gene DOID:9220 central sleep apnea ISO RGD:3807 D RGD:9068941 20200609 RGD PMID:18420958|REF_RGD_ID:2304275 12137659 GATB glutamyl-tRNA amidotransferase subunit B gene DOID:0112119 combined oxidative phosphorylation deficiency 41 ISO RGD:1317305 D RGD:7240710 20200520 OMIM 12137659 GATB glutamyl-tRNA amidotransferase subunit B gene DOID:0112119 combined oxidative phosphorylation deficiency 41 ISO RGD:1317305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 41 PMID:25741868|PMID:30283131 12137659 GATB glutamyl-tRNA amidotransferase subunit B gene DOID:630 genetic disease ISO RGD:1317305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137659 GATB glutamyl-tRNA amidotransferase subunit B gene DOID:9000777 Mitochondrial Cardiomyopathy ISO RGD:1317305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial PMID:30283131 12137676 MFSD8 major facilitator superfamily domain containing 8 gene DOID:0050817 Stargardt disease ISO RGD:1606119 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: STGD PMID:25333361|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32581362 12137676 MFSD8 major facilitator superfamily domain containing 8 gene DOID:0050817 Stargardt disease ISO RGD:1606119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: STGD PMID:25333361|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32037395|PMID:32581362 12137676 MFSD8 major facilitator superfamily domain containing 8 gene DOID:0070280 primary autosomal recessive microcephaly 5 ISO RGD:1606119 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive PMID:25741868 12137676 MFSD8 major facilitator superfamily domain containing 8 gene DOID:0110722 neuronal ceroid lipofuscinosis 7 IAGP D RGD:12801476 20220629 OMIA Neuronal ceroid lipofuscinosis, 7 PMID:25551667|PMID:26762174|PMID:27145727|PMID:27211611|PMID:28860089|PMID:32219101|PMID:33769611|PMID:35565635 12137676 MFSD8 major facilitator superfamily domain containing 8 gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1606119 D RGD:7240710 20180130 OMIM 12137676 MFSD8 major facilitator superfamily domain containing 8 gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1606119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:15074367|PMID:16199547|PMID:17564970|PMID:17576681|PMID:18414213|PMID:18850119|PMID:19177532|PMID:19201763|PMID:19277732|PMID:20826447|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25333361|PMID:25439737|PMID:25640679|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:26681805|PMID:27146152|PMID:27848944|PMID:27884173|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:28708303|PMID:28794409|PMID:29389947|PMID:29655203|PMID:29924869|PMID:30382371|PMID:30548430|PMID:31006324|PMID:31216804|PMID:31489614|PMID:31597037|PMID:31618753|PMID:31721179|PMID:31741823|PMID:32005694|PMID:32037395|PMID:32399599|PMID:32581362|PMID:33084218|PMID:33546218|PMID:34910516|PMID:35087090|PMID:9177532|PMID:9536098 12137676 MFSD8 major facilitator superfamily domain containing 8 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1606119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:26467025|PMID:26681805|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:33546218 12137676 MFSD8 major facilitator superfamily domain containing 8 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1606119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:26467025|PMID:26681805|PMID:27884173|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:33546218 12137676 MFSD8 major facilitator superfamily domain containing 8 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1606119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:26467025|PMID:26681805|PMID:27884173|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:30382371|PMID:31489614|PMID:32399599|PMID:33546218 12137676 MFSD8 major facilitator superfamily domain containing 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1606119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:25333361|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32581362 12137676 MFSD8 major facilitator superfamily domain containing 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1606119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:25333361|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32037395|PMID:32581362 12137676 MFSD8 major facilitator superfamily domain containing 8 gene DOID:1059 intellectual disability ISO RGD:1606119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12137676 MFSD8 major facilitator superfamily domain containing 8 gene DOID:11832 visual epilepsy ISO RGD:1606119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:18414213|PMID:19277732|PMID:21990111|PMID:22668694|PMID:25227500|PMID:25333361|PMID:25741868|PMID:26467025|PMID:26681805|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28586915|PMID:29924869|PMID:31006324|PMID:32581362|PMID:33546218 12137676 MFSD8 major facilitator superfamily domain containing 8 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1606119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:19201763|PMID:19277732|PMID:22668694|PMID:25333361|PMID:25741868|PMID:26075876|PMID:28041643|PMID:28492532|PMID:28586915|PMID:28708303|PMID:31006324|PMID:31741823|PMID:32037395|PMID:32581362|PMID:34910516|PMID:35087090 12137676 MFSD8 major facilitator superfamily domain containing 8 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1606119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:19201763|PMID:19277732|PMID:21990111|PMID:22668694|PMID:25333361|PMID:25741868|PMID:26075876|PMID:28041643|PMID:28492532|PMID:28586915|PMID:28708303|PMID:31006324|PMID:31741823|PMID:32037395|PMID:32581362|PMID:34910516|PMID:35087090 12137676 MFSD8 major facilitator superfamily domain containing 8 gene DOID:1826 epilepsy ISO RGD:1606119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868|PMID:28492532|PMID:30382371 12137676 MFSD8 major facilitator superfamily domain containing 8 gene DOID:630 genetic disease ISO RGD:1606119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:18414213|PMID:19177532|PMID:19201763|PMID:19277732|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25333361|PMID:25439737|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:26681805|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:28708303|PMID:29924869|PMID:30382371|PMID:31006324|PMID:31489614|PMID:32037395|PMID:32581362|PMID:33546218 12137676 MFSD8 major facilitator superfamily domain containing 8 gene DOID:8501 fundus dystrophy ISO RGD:1606119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:19177532|PMID:25227500|PMID:25333361|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32037395|PMID:32581362 12137676 MFSD8 major facilitator superfamily domain containing 8 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1606119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive 12137676 MFSD8 major facilitator superfamily domain containing 8 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1606119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive PMID:28492532 12137676 MFSD8 major facilitator superfamily domain containing 8 gene DOID:9004170 Macular Dystrophy with Central Cone Involvement ISO RGD:1606119 D RGD:7240710 20180130 OMIM 12137676 MFSD8 major facilitator superfamily domain containing 8 gene DOID:9004170 Macular Dystrophy with Central Cone Involvement ISO RGD:1606119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy with central cone involvement PMID:16199547|PMID:17564970|PMID:17576681|PMID:19177532|PMID:19201763|PMID:21990111|PMID:25227500|PMID:25333361|PMID:25439737|PMID:25741868|PMID:26681805|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28586915|PMID:31006324|PMID:31597037|PMID:32037395|PMID:32581362|PMID:33546218|PMID:35457110|PMID:9536098 12137676 MFSD8 major facilitator superfamily domain containing 8 gene DOID:9006534 Nervous System Malformations ISO RGD:1606119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:17576681|PMID:25741868|PMID:28492532|PMID:31216804|PMID:9536098 12137676 MFSD8 major facilitator superfamily domain containing 8 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1606119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease 1 PMID:25333361|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32581362 12137676 MFSD8 major facilitator superfamily domain containing 8 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1606119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Stargardt disease 1 PMID:25333361|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32037395|PMID:32581362 12137705 FILIP1L filamin A interacting protein 1 like gene DOID:630 genetic disease ISO RGD:1604834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137715 GPLD1 glycosylphosphatidylinositol specific phospholipase D1 gene DOID:0060175 succinic semialdehyde dehydrogenase deficiency ISO RGD:1606585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency PMID:14635103|PMID:17438226|PMID:23430864|PMID:25246302|PMID:25741868|PMID:27104484|PMID:28492532|PMID:30091983|PMID:31267348|PMID:32402538|PMID:33203024|PMID:34882073 12137715 GPLD1 glycosylphosphatidylinositol specific phospholipase D1 gene DOID:1059 intellectual disability ISO RGD:1606585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12137715 GPLD1 glycosylphosphatidylinositol specific phospholipase D1 gene DOID:1826 epilepsy ISO RGD:1606585 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12137715 GPLD1 glycosylphosphatidylinositol specific phospholipase D1 gene DOID:630 genetic disease ISO RGD:1606585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30091983 12137754 PSMD14 proteasome 26S subunit, non-ATPase 14 gene DOID:12849 autistic disorder ISO RGD:1315018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 12137754 PSMD14 proteasome 26S subunit, non-ATPase 14 gene DOID:630 genetic disease ISO RGD:1315018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137754 PSMD14 proteasome 26S subunit, non-ATPase 14 gene DOID:769 neuroblastoma ISO RGD:1315018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30871063 12137754 PSMD14 proteasome 26S subunit, non-ATPase 14 gene DOID:9000918 Disease Progression ISO RGD:1315018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30871063 12137754 PSMD14 proteasome 26S subunit, non-ATPase 14 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1594532 D RGD:9068941 20200609 RGD protein:decreased expression:liver, cytosolic proteasome complex (rat) PMID:19609968|REF_RGD_ID:9480236 12137768 SEZ6L2 seizure related 6 homolog like 2 gene DOID:0060019 coronin-1A deficiency ISO RGD:1606022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12137768 SEZ6L2 seizure related 6 homolog like 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1606022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12137768 SEZ6L2 seizure related 6 homolog like 2 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1606022 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12137768 SEZ6L2 seizure related 6 homolog like 2 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1606022 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12137768 SEZ6L2 seizure related 6 homolog like 2 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1606022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12137768 SEZ6L2 seizure related 6 homolog like 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1606022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 12137768 SEZ6L2 seizure related 6 homolog like 2 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1606022 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12137768 SEZ6L2 seizure related 6 homolog like 2 gene DOID:12849 autistic disorder ISO RGD:1606022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12137768 SEZ6L2 seizure related 6 homolog like 2 gene DOID:1882 atrial heart septal defect ISO RGD:1606022 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12137768 SEZ6L2 seizure related 6 homolog like 2 gene DOID:5419 schizophrenia ISO RGD:1606022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12137768 SEZ6L2 seizure related 6 homolog like 2 gene DOID:630 genetic disease ISO RGD:1606022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137768 SEZ6L2 seizure related 6 homolog like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12137768 SEZ6L2 seizure related 6 homolog like 2 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1606022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12137768 SEZ6L2 seizure related 6 homolog like 2 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1606022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12137795 DRAM2 DNA damage regulated autophagy modulator 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1604537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12137795 DRAM2 DNA damage regulated autophagy modulator 2 gene DOID:12849 autistic disorder ISO RGD:1604537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12137795 DRAM2 DNA damage regulated autophagy modulator 2 gene DOID:630 genetic disease ISO RGD:1604537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12137795 DRAM2 DNA damage regulated autophagy modulator 2 gene DOID:8501 fundus dystrophy ISO RGD:1604537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25983245|PMID:28492532 12137795 DRAM2 DNA damage regulated autophagy modulator 2 gene DOID:9005737 Cone-Rod Dystrophy 21 ISO RGD:1604537 D RGD:7240710 20180130 OMIM 12137795 DRAM2 DNA damage regulated autophagy modulator 2 gene DOID:9005737 Cone-Rod Dystrophy 21 ISO RGD:1604537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 21 PMID:25741868|PMID:25983245|PMID:28492532 12137820 PCNX4 pecanex 4 gene DOID:630 genetic disease ISO RGD:1348042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137840 POMT2 protein O-mannosyltransferase 2 gene DOID:0050453 lissencephaly ISO RGD:1313480 D RGD:9068941 20200609 RGD DNA:missense mutation:exonp.G726R (c.2176G>A) (human) PMID:17559086|REF_RGD_ID:11065022 12137840 POMT2 protein O-mannosyltransferase 2 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1313480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy 12137840 POMT2 protein O-mannosyltransferase 2 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1313480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pagon syndrome PMID:17634419|PMID:17878207|PMID:17878297|PMID:19138766|PMID:19299310|PMID:24002165|PMID:25741868|PMID:27854218|PMID:28492532 12137840 POMT2 protein O-mannosyltransferase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1313480 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12137840 POMT2 protein O-mannosyltransferase 2 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1313480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 12137840 POMT2 protein O-mannosyltransferase 2 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1313480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:18414213|PMID:24183756|PMID:25741868|PMID:27457812|PMID:27854218|PMID:28492532|PMID:29175898|PMID:30060766|PMID:31127727|PMID:32528171|PMID:33200426|PMID:34413876 12137840 POMT2 protein O-mannosyltransferase 2 gene DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N ISO RGD:1313480 D RGD:7240710 20180130 OMIM 12137840 POMT2 protein O-mannosyltransferase 2 gene DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N ISO RGD:1313480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2N | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 14 PMID:17559086|PMID:17576681|PMID:17634419|PMID:17869517|PMID:17878207|PMID:17878297|PMID:17923109|PMID:18414213|PMID:18513969|PMID:18752264|PMID:19138766|PMID:19299310|PMID:24002165|PMID:24033266|PMID:25214167|PMID:25741868|PMID:26467025|PMID:27447704|PMID:27457812|PMID:27854218|PMID:28492532|PMID:29175898|PMID:29382405|PMID:30060766|PMID:31127727|PMID:32404165|PMID:32528171|PMID:33176815|PMID:33200426|PMID:34413876|PMID:9536098 12137840 POMT2 protein O-mannosyltransferase 2 gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1313480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:17559086|PMID:17634419|PMID:17878207|PMID:17878297|PMID:19138766|PMID:19299310|PMID:24002165|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532 12137840 POMT2 protein O-mannosyltransferase 2 gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1313480 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:15894594|PMID:17559086|PMID:17634419|PMID:17878207|PMID:17878297|PMID:19138766|PMID:19299310|PMID:24002165|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532|PMID:29175898|PMID:29382405|PMID:30060766|PMID:30091983|PMID:31127727|PMID:32494558|PMID:32528171|PMID:33200426|PMID:34413876 12137840 POMT2 protein O-mannosyltransferase 2 gene DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 ISO RGD:1313480 D RGD:7240710 20180130 OMIM 12137840 POMT2 protein O-mannosyltransferase 2 gene DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 ISO RGD:1313480 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 PMID:15894594|PMID:16199547|PMID:16701995|PMID:17559086|PMID:17576681|PMID:17634419|PMID:17869517|PMID:17878207|PMID:17878297|PMID:17923109|PMID:18414213|PMID:18513969|PMID:18752264|PMID:19138766|PMID:19299310|PMID:22323514|PMID:22700954|PMID:22958903|PMID:24002165|PMID:24033266|PMID:25214167|PMID:25267602|PMID:25741868|PMID:26467025|PMID:26495167|PMID:27447704|PMID:27854218|PMID:27894351|PMID:28492532|PMID:28688748|PMID:28973083|PMID:28980384|PMID:29175898|PMID:29382405|PMID:30060766|PMID:30091983|PMID:31127727|PMID:32494558|PMID:32528171|PMID:33176815|PMID:33200426|PMID:34413876|PMID:35628876|PMID:9536098 12137840 POMT2 protein O-mannosyltransferase 2 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1313480 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase 12137840 POMT2 protein O-mannosyltransferase 2 gene DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 ISO RGD:1313480 D RGD:7240710 20180130 OMIM 12137840 POMT2 protein O-mannosyltransferase 2 gene DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 ISO RGD:1313480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED PMID:16701995|PMID:17634419|PMID:17869517|PMID:17878207|PMID:17878297|PMID:18513969|PMID:19138766|PMID:19299310|PMID:24002165|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532 12137840 POMT2 protein O-mannosyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1313480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17878207|PMID:17923109|PMID:25214167|PMID:25741868|PMID:27447704|PMID:28492532|PMID:28973083|PMID:30060766|PMID:32528171|PMID:33176815|PMID:34413876 12137840 POMT2 protein O-mannosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1313480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28815891 12137840 POMT2 protein O-mannosyltransferase 2 gene DOID:9884 muscular dystrophy ISO RGD:1313480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:17634419|PMID:17878207|PMID:17878297|PMID:19138766|PMID:19299310|PMID:24002165|PMID:25741868|PMID:27854218|PMID:28492532 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:733386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:25110237|PMID:25116393|PMID:25326635|PMID:25326637|PMID:25521989|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27125181|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28492532|PMID:28655553|PMID:30739908|PMID:31624717 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:733386 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:25110237|PMID:25116393|PMID:25326635|PMID:25326637|PMID:25521989|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:31624717 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:733386 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25326635|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:31624717 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:733386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25326635|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29192238|PMID:29706644|PMID:29907982|PMID:30219046|PMID:30701076|PMID:30739908|PMID:31624717|PMID:31915033|PMID:32339686|PMID:33436942|PMID:33824467 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:733386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:0070235 Loeys-Dietz syndrome 1 ISO RGD:733386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17652900|PMID:18070134|PMID:18455604|PMID:18781618|PMID:18852674|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25326635|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28209770|PMID:28492532|PMID:28550590|PMID:28655553|PMID:29192238|PMID:29706644|PMID:29907982|PMID:30219046|PMID:30701076|PMID:30739908|PMID:31915033|PMID:32339686|PMID:33436942|PMID:33824467|PMID:34270679 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:0070235 Loeys-Dietz syndrome 1 susceptibility ISO RGD:733386 D RGD:7240710 20230505 OMIM 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:733386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:733386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:1059 intellectual disability ISO RGD:733386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:11054 urinary bladder cancer ISO RGD:733386 D RGD:9068941 20200609 RGD PMID:9363992|REF_RGD_ID:2302036 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:127 leiomyoma ISO RGD:3852 D RGD:9068941 20200609 RGD PMID:17505012|REF_RGD_ID:2302021 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:12712 nephronophthisis ISO RGD:733386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:733386 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:16928994|PMID:18781618|PMID:20332227|PMID:24033266|PMID:24055113|PMID:25116393|PMID:25260786|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25907466|PMID:25985138|PMID:26017485|PMID:27011056|PMID:27153395|PMID:28492532|PMID:28655553 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733386 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23142374|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25521989|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27558455|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28166811|PMID:28492532|PMID:28655553|PMID:29543232|PMID:30087447|PMID:30675029|PMID:30739908|PMID:31624717|PMID:31837199|PMID:5173258|PMID:8499949|PMID:9536098 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733386 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23142374|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25521989|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28166811|PMID:28209770|PMID:28492532|PMID:28655553|PMID:30087447|PMID:30675029|PMID:31624717|PMID:31837199|PMID:31915033|PMID:5173258|PMID:8499949|PMID:9536098 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733386 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28166811|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29907982|PMID:30087447|PMID:30675029|PMID:31624717|PMID:31837199|PMID:31915033|PMID:5173258|PMID:8499949|PMID:9536098 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733386 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28166811|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29192238|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30675029|PMID:30701076|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:33256177|PMID:5173258|PMID:8499949|PMID:9536098 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:33256177|PMID:33436942|PMID:33824467|PMID:5173258|PMID:8499949|PMID:9536098 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:20813212|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25640679|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:33256177|PMID:33436942|PMID:33824467|PMID:5173258|PMID:8499949|PMID:9536098 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:14323 Marfan syndrome ISO RGD:733386 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:18781618|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:28152038|PMID:28209770|PMID:28492532|PMID:31624717 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:30675029 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:1580 diffuse scleroderma ISO RGD:733386 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27228633 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:2256 osteochondrodysplasia ISO RGD:3852 D RGD:9068941 20200609 RGD PMID:17366323|REF_RGD_ID:2302024 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:2340 craniosynostosis ISO RGD:733386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis PMID:25741868|PMID:31837199 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:2661 myoepithelioma ISO RGD:733386 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:3021 acute kidney failure ISO RGD:733386 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34677723 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:3498 pancreatic ductal adenocarcinoma ameliorates ISO RGD:733386 D RGD:9068941 20221027 RGD human cell line in a mouse model PMID:17297450|REF_RGD_ID:155630637 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:3883 Lynch syndrome ISO RGD:733386 D RGD:9068941 20200609 RGD PMID:17613544|REF_RGD_ID:2306282 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:418 systemic scleroderma ISO RGD:736083 D RGD:9068941 20220825 MouseDO OMIM:181750 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:4676 uremia ISO RGD:733386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:5082 liver cirrhosis ISO RGD:733386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28560358 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:520 aortic disease ISO RGD:733386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:16928994|PMID:23884466|PMID:26848186|PMID:27879313|PMID:28492532 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:557 kidney disease ISO RGD:3852 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:18198643|REF_RGD_ID:2302020 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:5585 Ferguson-Smith tumor ISO RGD:733386 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ferguson-Smith type epithelioma | ClinVar Annotator: match by term: Multiple self-healing squamous epithelioma PMID:16596670|PMID:16791849|PMID:16928994|PMID:18781618|PMID:19542084|PMID:21267002|PMID:21358634|PMID:22414221|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:25110237|PMID:25116393|PMID:25521989|PMID:25637381|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28209770|PMID:28492532|PMID:29706644|PMID:29907982|PMID:31915033|PMID:33256177|PMID:33824467|PMID:5173258|PMID:8499949 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:5585 Ferguson-Smith tumor susceptibility ISO RGD:733386 D RGD:7240710 20190502 OMIM 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:5844 myocardial infarction ISO RGD:3852 D RGD:9068941 20200609 RGD PMID:10198196|REF_RGD_ID:1601617 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:630 genetic disease ISO RGD:733386 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12499371|PMID:16928994|PMID:18781618|PMID:22113417|PMID:23672593|PMID:25437144|PMID:28492532 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:3852 D RGD:9068941 20200609 RGD PMID:18202349|REF_RGD_ID:2302019 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:65 connective tissue disease ISO RGD:733386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:8398 osteoarthritis ISO RGD:736083 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733386 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:12808151|REF_RGD_ID:737735 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:733386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:25741868|PMID:27879313|PMID:28492532 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3852 D RGD:9068941 20200609 RGD PMID:15723089|REF_RGD_ID:2302027 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3852 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:16009107|REF_RGD_ID:1601595 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733386 D RGD:9068941 20200609 RGD PMID:15723089|REF_RGD_ID:2302027 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736083 D RGD:9068941 20200609 RGD PMID:15723089|REF_RGD_ID:2302027 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:733386 D RGD:9068941 20200924 RGD mRNA:increased expression:lung PMID:25593290|REF_RGD_ID:38500244 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:3852 D RGD:9068941 20200609 RGD associated with Experimental Pancreatitis, Chronic PMID:26645248|REF_RGD_ID:14995470 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:733386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:733386 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:18781618|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:28152038|PMID:28209770|PMID:28492532|PMID:31624717 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9004464 Skin Neoplasms ISO RGD:733386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21358634 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733386 D RGD:9068941 20200609 RGD PMID:12808151|REF_RGD_ID:737735 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9005890 Disproportionate Tall Stature ISO RGD:733386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature PMID:16799921|PMID:19542084|PMID:26848186|PMID:26877057|PMID:28492532|PMID:30739908 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9006045 Dissecting Aneurysm ISO RGD:733386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22772368 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9006205 Animal Disease Models ISO RGD:733386 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27228633 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28560358 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:733386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18703712 12137866 TGFBR1 transforming growth factor beta receptor 1 gene DOID:9256 colorectal cancer ISO RGD:733386 D RGD:9068941 20221027 RGD sporadic colorectal cancer;DNA:deletion:exon: (rs11466445) (human) PMID:24880985|REF_RGD_ID:155630638 12137878 CLSPN claspin gene DOID:0080600 COVID-19 ISO RGD:1319224 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12137878 CLSPN claspin gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12137878 CLSPN claspin gene DOID:2661 myoepithelioma ISO RGD:1319224 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12137878 CLSPN claspin gene DOID:630 genetic disease ISO RGD:1319224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137910 NPTX1 neuronal pentraxin 1 gene DOID:630 genetic disease ISO RGD:1321571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137910 NPTX1 neuronal pentraxin 1 gene DOID:9002396 Spinocerebellar Ataxia 50 ISO RGD:1321571 D RGD:7240710 20230104 OMIM 12137910 NPTX1 neuronal pentraxin 1 gene DOID:9002396 Spinocerebellar Ataxia 50 ISO RGD:1321571 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 50 PMID:25741868|PMID:34788392|PMID:35285082|PMID:35560436 12137919 CILP2 cartilage intermediate layer protein 2 gene DOID:11054 urinary bladder cancer ISO RGD:1605797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 12137919 CILP2 cartilage intermediate layer protein 2 gene DOID:630 genetic disease ISO RGD:1605797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137931 MYO9B myosin IXB gene DOID:10608 celiac disease ISO RGD:736717 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Celiac disease, susceptibility to, 4 PMID:15822038|PMID:16282976|PMID:25741868|PMID:28492532 12137931 MYO9B myosin IXB gene DOID:10608 celiac disease susceptibility ISO RGD:736717 D RGD:7240710 20190502 OMIM 12137931 MYO9B myosin IXB gene DOID:630 genetic disease ISO RGD:736717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137931 MYO9B myosin IXB gene DOID:9005539 Familial Prostate Cancer ISO RGD:736717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12137992 CYP26A1 cytochrome P450 family 26 subfamily A member 1 gene DOID:0050424 familial adenomatous polyposis ISO RGD:731375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16885356 12137992 CYP26A1 cytochrome P450 family 26 subfamily A member 1 gene DOID:0080016 spina bifida ISO RGD:731376 D RGD:9068941 20200609 RGD PMID:11953746|REF_RGD_ID:737785 12137992 CYP26A1 cytochrome P450 family 26 subfamily A member 1 gene DOID:289 endometriosis ISO RGD:731375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12137992 CYP26A1 cytochrome P450 family 26 subfamily A member 1 gene DOID:299 adenocarcinoma ISO RGD:731375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18059332 12137992 CYP26A1 cytochrome P450 family 26 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:731375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12137992 CYP26A1 cytochrome P450 family 26 subfamily A member 1 gene DOID:7941 Barrett's adenocarcinoma ISO RGD:731375 D RGD:9068941 20200609 RGD PMID:18059332|REF_RGD_ID:13782259 12137992 CYP26A1 cytochrome P450 family 26 subfamily A member 1 gene DOID:8866 actinic keratosis ISO RGD:731375 D RGD:9068941 20200609 RGD PMID:22179182|REF_RGD_ID:13782258 12137992 CYP26A1 cytochrome P450 family 26 subfamily A member 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:731375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18059332 12137992 CYP26A1 cytochrome P450 family 26 subfamily A member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12137992 CYP26A1 cytochrome P450 family 26 subfamily A member 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:731375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16885356 12137992 CYP26A1 cytochrome P450 family 26 subfamily A member 1 gene DOID:9008550 Vitamin A Deficiency ISO RGD:620161 D RGD:9068941 20200609 RGD PMID:22554462|REF_RGD_ID:13782256 12137992 CYP26A1 cytochrome P450 family 26 subfamily A member 1 gene DOID:9008550 Vitamin A Deficiency treatment ISO RGD:731376 D RGD:9068941 20200609 RGD PMID:25451926|REF_RGD_ID:13782197 12137992 CYP26A1 cytochrome P450 family 26 subfamily A member 1 gene DOID:9206 Barrett's esophagus ISO RGD:731375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18059332 12138003 FBXW4 F-box and WD repeat domain containing 4 gene DOID:0090020 split hand-foot malformation ISO RGD:1603710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation PMID:21681106 12138003 FBXW4 F-box and WD repeat domain containing 4 gene DOID:0090025 split hand-foot malformation 3 ISO RGD:1603710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 3 PMID:28492532 12138003 FBXW4 F-box and WD repeat domain containing 4 gene DOID:630 genetic disease ISO RGD:1603710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12138025 GABBR1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:10763 hypertension ISO RGD:621537 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:18338268|REF_RGD_ID:2315462 12138025 GABBR1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:11372 megacolon ISO RGD:734108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12138025 GABBR1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:11832 visual epilepsy ISO RGD:621537 D RGD:9068941 20200609 RGD PMID:15153780|REF_RGD_ID:2315492 12138025 GABBR1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:11832 visual epilepsy ISO RGD:621537 D RGD:9068941 20200609 RGD protein:altered location:forebrain PMID:19054408|REF_RGD_ID:2315437 12138025 GABBR1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:12849 autistic disorder ISO RGD:734108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16770606|PMID:19002745 12138025 GABBR1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:1574 alcohol use disorder ISO RGD:734108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 12138025 GABBR1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:630 genetic disease ISO RGD:734108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12138025 GABBR1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:9002362 Hyperkinesis ISO RGD:734108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16990508 12138025 GABBR1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:734108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 12138025 GABBR1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621537 D RGD:9068941 20200609 RGD PMID:2849069|REF_RGD_ID:2315971 12138025 GABBR1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:9008086 Developmental Disabilities ISO RGD:734108 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:36103875 12138048 ABHD4 abhydrolase domain containing 4, N-acyl phospholipase B gene DOID:630 genetic disease ISO RGD:1323534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12138048 ABHD4 abhydrolase domain containing 4, N-acyl phospholipase B gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1323534 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12138068 RGS21 regulator of G protein signaling 21 gene DOID:1540 parathyroid carcinoma ISO RGD:1353958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12138068 RGS21 regulator of G protein signaling 21 gene DOID:630 genetic disease ISO RGD:1353958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12138068 RGS21 regulator of G protein signaling 21 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1353958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 12138068 RGS21 regulator of G protein signaling 21 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12138075 PHGDH phosphoglycerate dehydrogenase gene DOID:0050722 PHGDH deficiency ISO RGD:737224 D RGD:7240710 20210114 OMIM 12138075 PHGDH phosphoglycerate dehydrogenase gene DOID:0050722 PHGDH deficiency ISO RGD:737224 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:11034457|PMID:11055895|PMID:11751922|PMID:14645240|PMID:16199547|PMID:17576681|PMID:19235232|PMID:20196394|PMID:21113737|PMID:22393170|PMID:22886422|PMID:24836451|PMID:25152457|PMID:25741868|PMID:25913727|PMID:26467025|PMID:26610677|PMID:26960553|PMID:28135894|PMID:28252636|PMID:28492532|PMID:28903583|PMID:29018476|PMID:29286531|PMID:29703746|PMID:30214071|PMID:30348640|PMID:30838783|PMID:31847883|PMID:32404165|PMID:32579715|PMID:33087887|PMID:33758422|PMID:34055682|PMID:9536098 12138075 PHGDH phosphoglycerate dehydrogenase gene DOID:0080076 Neu-Laxova syndrome 1 ISO RGD:737224 D RGD:7240710 20210114 OMIM 12138075 PHGDH phosphoglycerate dehydrogenase gene DOID:0080076 Neu-Laxova syndrome 1 ISO RGD:737224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neu-Laxova syndrome 1 PMID:11034457|PMID:11055895|PMID:14645240|PMID:16199547|PMID:19235232|PMID:20196394|PMID:22393170|PMID:24836451|PMID:25152457|PMID:25741868|PMID:26467025|PMID:26960553|PMID:28492532|PMID:29018476|PMID:32404165|PMID:33758422 12138075 PHGDH phosphoglycerate dehydrogenase gene DOID:0081168 HMG-CoA synthase 2 deficiency ISO RGD:737224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency 12138075 PHGDH phosphoglycerate dehydrogenase gene DOID:1826 epilepsy ISO RGD:737224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:14645240|PMID:16199547|PMID:24836451|PMID:25741868|PMID:28492532|PMID:29286531|PMID:29703746 12138075 PHGDH phosphoglycerate dehydrogenase gene DOID:1909 melanoma ISO RGD:737224 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:21804546 12138075 PHGDH phosphoglycerate dehydrogenase gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:737224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 12138075 PHGDH phosphoglycerate dehydrogenase gene DOID:3908 lung non-small cell carcinoma ISO RGD:737224 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:26482881 12138075 PHGDH phosphoglycerate dehydrogenase gene DOID:630 genetic disease ISO RGD:737224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22393170|PMID:25741868|PMID:28492532|PMID:29286531|PMID:31847883|PMID:33758422 12138075 PHGDH phosphoglycerate dehydrogenase gene DOID:9002304 Prostatic Neoplasms ISO RGD:737224 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12138075 PHGDH phosphoglycerate dehydrogenase gene DOID:9007188 Liver Neoplasms ISO RGD:737224 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12138075 PHGDH phosphoglycerate dehydrogenase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737224 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:21804546 12138075 PHGDH phosphoglycerate dehydrogenase gene DOID:9008939 Breast Neoplasms ISO RGD:737224 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:21804546 12138075 PHGDH phosphoglycerate dehydrogenase gene DOID:9252 amino acid metabolic disorder ISO RGD:737224 D RGD:9068941 20210122 RGD PHGDH deficiency, OMIM:601815, DNA:point mutation:exon:V490M PMID:11055895|REF_RGD_ID:1600412 12138091 GSE1 Gse1 coiled-coil protein gene DOID:10534 stomach cancer ameliorates ISO RGD:1604378 D RGD:9068941 20220224 RGD PMID:29367342|REF_RGD_ID:151361142 12138091 GSE1 Gse1 coiled-coil protein gene DOID:10534 stomach cancer disease_progression ISO RGD:1604378 D RGD:9068941 20220224 RGD PMID:29367342|REF_RGD_ID:151361142 12138091 GSE1 Gse1 coiled-coil protein gene DOID:10534 stomach cancer exacerbates ISO RGD:1604378 D RGD:9068941 20220224 RGD PMID:29367342|REF_RGD_ID:151361142 12138091 GSE1 Gse1 coiled-coil protein gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1604378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12138091 GSE1 Gse1 coiled-coil protein gene DOID:5419 schizophrenia ISO RGD:1604378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12138091 GSE1 Gse1 coiled-coil protein gene DOID:630 genetic disease ISO RGD:1604378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12138124 SH3GL3 SH3 domain containing GRB2 like 3, endophilin A3 gene DOID:13938 amenorrhea ISO RGD:731323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12138124 SH3GL3 SH3 domain containing GRB2 like 3, endophilin A3 gene DOID:2717 Bloom syndrome ISO RGD:731323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12138124 SH3GL3 SH3 domain containing GRB2 like 3, endophilin A3 gene DOID:630 genetic disease ISO RGD:731323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12138124 SH3GL3 SH3 domain containing GRB2 like 3, endophilin A3 gene DOID:9256 colorectal cancer ISO RGD:731323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12138150 GRP gastrin releasing peptide gene DOID:0060842 isolated microphthalmia 3 ISO RGD:737598 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 12138150 GRP gastrin releasing peptide gene DOID:0111988 immunodeficiency 12 ISO RGD:737598 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 12138150 GRP gastrin releasing peptide gene DOID:10914 amnestic disorder ISO RGD:737598 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11564462 12138150 GRP gastrin releasing peptide gene DOID:630 genetic disease ISO RGD:737598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12138150 GRP gastrin releasing peptide gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:737598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2910524 12138150 GRP gastrin releasing peptide gene DOID:9006169 Head and Neck Neoplasms ISO RGD:737598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342401 12138150 GRP gastrin releasing peptide gene DOID:9006202 Pruritus ISO RGD:737598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29669290 12138157 RIPPLY1 ripply transcriptional repressor 1 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1641968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 12138157 RIPPLY1 ripply transcriptional repressor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1641968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12138157 RIPPLY1 ripply transcriptional repressor 1 gene DOID:12849 autistic disorder ISO RGD:1641968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12138157 RIPPLY1 ripply transcriptional repressor 1 gene DOID:630 genetic disease ISO RGD:1641968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12138170 MYF6 myogenic factor 6 gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:731932 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:11053684|PMID:25741868|PMID:28492532 12138170 MYF6 myogenic factor 6 gene DOID:0111223 centronuclear myopathy 1 ISO RGD:731932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, centronuclear, 3 PMID:11053684|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12138170 MYF6 myogenic factor 6 gene DOID:422 congenital structural myopathy ISO RGD:731932 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:11053684|PMID:25741868|PMID:28492532 12138170 MYF6 myogenic factor 6 gene DOID:630 genetic disease ISO RGD:731932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12138177 LOC611642 interleukin-9 receptor gene DOID:0112003 immunodeficiency 33 ISO RGD:735670 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12138177 LOC611642 interleukin-9 receptor gene DOID:12849 autistic disorder ISO RGD:735670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12138177 LOC611642 interleukin-9 receptor gene DOID:1485 cystic fibrosis ISO RGD:735670 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system mucosa PMID:12782818|REF_RGD_ID:5128699 12138177 LOC611642 interleukin-9 receptor gene DOID:2841 asthma ISO RGD:735670 D RGD:9068941 20200609 RGD PMID:10629460|REF_RGD_ID:5128704 12138177 LOC611642 interleukin-9 receptor gene DOID:409 liver disease ISO RGD:735670 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12138177 LOC611642 interleukin-9 receptor gene DOID:9000998 Brain Injuries ISO RGD:735670 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 12138177 LOC611642 interleukin-9 receptor gene DOID:9002720 Splenomegaly ISO RGD:735670 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12138208 HFE homeostatic iron regulator gene DOID:0050700 cardiomyopathy ISO RGD:1345296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:16880463|PMID:16979952|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 12138208 HFE homeostatic iron regulator gene DOID:0050700 cardiomyopathy ISO RGD:1345296 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:16880463|PMID:16979952|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20560808|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 12138208 HFE homeostatic iron regulator gene DOID:0050700 cardiomyopathy ISO RGD:1345296 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:16880463|PMID:16979952|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20560808|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 12138208 HFE homeostatic iron regulator gene DOID:0050700 cardiomyopathy ISO RGD:1345296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20471131|PMID:20560808|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 12138208 HFE homeostatic iron regulator gene DOID:0050700 cardiomyopathy no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation: :p.H63D (human) PMID:23861158|REF_RGD_ID:10755538 12138208 HFE homeostatic iron regulator gene DOID:0050700 cardiomyopathy treatment ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation: :p.C282Y (human) PMID:23861158|REF_RGD_ID:10755538 12138208 HFE homeostatic iron regulator gene DOID:0050908 myelodysplastic syndrome ISO RGD:1345296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17001480 12138208 HFE homeostatic iron regulator gene DOID:0050908 myelodysplastic syndrome ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.H63D, p.C282Y (human) PMID:12624489|REF_RGD_ID:10755559 12138208 HFE homeostatic iron regulator gene DOID:0060041 autism spectrum disorder ISO RGD:1345296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20808228 12138208 HFE homeostatic iron regulator gene DOID:0080177 hepatic veno-occlusive disease susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C282Y (human) PMID:15834437|REF_RGD_ID:8694354 12138208 HFE homeostatic iron regulator gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:CDS:p.H63D PMID:11473047|REF_RGD_ID:1601452 12138208 HFE homeostatic iron regulator gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C282Y (human) PMID:9453491|REF_RGD_ID:8694420 12138208 HFE homeostatic iron regulator gene DOID:0080348 Alzheimer's disease 1 ISO RGD:1345296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Alzheimer disease type 1 | ClinVar Annotator: match by term: Early-onset familial form of Alzheimer disease PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 12138208 HFE homeostatic iron regulator gene DOID:0080348 Alzheimer's disease 1 susceptibility ISO RGD:1345296 D RGD:7240710 20230517 OMIM 12138208 HFE homeostatic iron regulator gene DOID:0111029 hemochromatosis type 1 ISO RGD:1345296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 1 PMID:10194428|PMID:10381492|PMID:10401000|PMID:10431233|PMID:10575540|PMID:10612845|PMID:10660483|PMID:10930379|PMID:10950943|PMID:10953950|PMID:11040194|PMID:11336458|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11875012|PMID:11903354|PMID:11904676|PMID:12241803|PMID:12377814|PMID:12429850|PMID:12436244|PMID:12537660|PMID:12542741|PMID:12584229|PMID:12681966|PMID:12693884|PMID:12707220|PMID:12737937|PMID:12885340|PMID:12915468|PMID:12952143|PMID:14618419|PMID:14633868|PMID:14673107|PMID:14729817|PMID:15025725|PMID:15046077|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15350019|PMID:15477198|PMID:15546588|PMID:15775762|PMID:15858186|PMID:15965644|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17079357|PMID:17210810|PMID:17240320|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17576681|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:18762941|PMID:19084217|PMID:19159930|PMID:19214108|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:19681031|PMID:19759876|PMID:19787796|PMID:20107990|PMID:20117027|PMID:20301613|PMID:20471131|PMID:20560808|PMID:20609690|PMID:20722017|PMID:21243428|PMID:21349849|PMID:21411349|PMID:21452290|PMID:22531912|PMID:22624560|PMID:22890139|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:24872867|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26151776|PMID:26153218|PMID:26365338|PMID:26456104|PMID:26799139|PMID:26975792|PMID:27124787|PMID:27173269|PMID:27518069|PMID:27659401|PMID:27667161|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:29404719|PMID:29590070|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9536098|PMID:9546397|PMID:9585606|PMID:9851896|PMID:9851897|PMID:9858853 12138208 HFE homeostatic iron regulator gene DOID:0111029 hemochromatosis type 1 susceptibility ISO RGD:1345296 D RGD:7240710 20230517 OMIM 12138208 HFE homeostatic iron regulator gene DOID:0111034 hemochromatosis type 2 ISO RGD:1345296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 2 PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 12138208 HFE homeostatic iron regulator gene DOID:10652 Alzheimer's disease ISO RGD:1345296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer's disease PMID:10194428|PMID:10381492|PMID:10401000|PMID:10431233|PMID:10660483|PMID:11040194|PMID:11336458|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12377814|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:19681031|PMID:20107990|PMID:20301613|PMID:20471131|PMID:20560808|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27173269|PMID:27659401|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:29404719|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 12138208 HFE homeostatic iron regulator gene DOID:11476 osteoporosis ISO RGD:736272 D RGD:9068941 20200609 RGD associated with hemochromatosis PMID:26829642|REF_RGD_ID:14746963 12138208 HFE homeostatic iron regulator gene DOID:11713 diabetic angiopathy ISO RGD:1345296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 7 PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20471131|PMID:20560808|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 12138208 HFE homeostatic iron regulator gene DOID:11713 diabetic angiopathy susceptibility ISO RGD:1345296 D RGD:7240710 20230517 OMIM 12138208 HFE homeostatic iron regulator gene DOID:11758 iron deficiency anemia ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with celiac disease;DNA:missense mutations: :p.H63D, p.C282Y (human) PMID:29194702|REF_RGD_ID:14701052 12138208 HFE homeostatic iron regulator gene DOID:12241 beta thalassemia ISO RGD:1345296 D RGD:9068941 20200609 RGD PMID:14703689|REF_RGD_ID:10755489 12138208 HFE homeostatic iron regulator gene DOID:12241 beta thalassemia ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C282Y (human) PMID:17160266|REF_RGD_ID:10755537 12138208 HFE homeostatic iron regulator gene DOID:12241 beta thalassemia no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.H63D, p.S65C (human) PMID:17160266|REF_RGD_ID:10755537 12138208 HFE homeostatic iron regulator gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD PMID:11040018|REF_RGD_ID:1582687 12138208 HFE homeostatic iron regulator gene DOID:13268 porphyria ISO RGD:1345296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HFE POLYMORPHISM PMID:10401000|PMID:25741868 12138208 HFE homeostatic iron regulator gene DOID:14330 Parkinson's disease ISO RGD:1345296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16824219 12138208 HFE homeostatic iron regulator gene DOID:1485 cystic fibrosis ISO RGD:1345296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12429850|PMID:12885340|PMID:14673107|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16880463|PMID:16979952|PMID:17600748|PMID:18199861|PMID:18566337|PMID:19159930|PMID:19554541|PMID:19560233|PMID:20301613|PMID:21243428|PMID:21349849|PMID:23429074|PMID:24033266|PMID:24729993|PMID:25741868|PMID:26365338|PMID:26975792|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31220083|PMID:31980526|PMID:8696333|PMID:8896550|PMID:8943161|PMID:9106528|PMID:9162021|PMID:9356458|PMID:9462220 12138208 HFE homeostatic iron regulator gene DOID:1485 cystic fibrosis ISO RGD:1345296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12429850|PMID:12885340|PMID:14673107|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17600748|PMID:18199861|PMID:18566337|PMID:19159930|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20560808|PMID:21243428|PMID:21349849|PMID:23178241|PMID:23429074|PMID:24033266|PMID:24729993|PMID:25741868|PMID:26153218|PMID:26365338|PMID:26975792|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31220083|PMID:31980526|PMID:8696333|PMID:8896550|PMID:8943161|PMID:9106528|PMID:9162021|PMID:9356458|PMID:9462220 12138208 HFE homeostatic iron regulator gene DOID:1485 cystic fibrosis severity ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.H63D, p.C282Y (human) PMID:30291871|REF_RGD_ID:14701045 12138208 HFE homeostatic iron regulator gene DOID:1612 breast cancer no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotype:cds:p.H63D, p.S65C, p.C282Y (human) PMID:15894659|REF_RGD_ID:8694349 12138208 HFE homeostatic iron regulator gene DOID:1612 breast cancer susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C282Y (human) PMID:14973098|REF_RGD_ID:8694348 12138208 HFE homeostatic iron regulator gene DOID:1883 hepatitis C ISO RGD:1345296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15865084 12138208 HFE homeostatic iron regulator gene DOID:2352 hemochromatosis ISO RGD:1345296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: HFE INTRONIC POLYMORPHISM | ClinVar Annotator: match by term: HFE POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis PMID:10194428|PMID:10348824|PMID:10381492|PMID:10401000|PMID:10431233|PMID:10545942|PMID:10545944|PMID:10575540|PMID:10610176|PMID:10612845|PMID:10660483|PMID:10930379|PMID:10953950|PMID:11040194|PMID:11336458|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11875012|PMID:11903354|PMID:11904676|PMID:12241803|PMID:12377814|PMID:12429850|PMID:12436244|PMID:12537660|PMID:12542741|PMID:12584229|PMID:12681966|PMID:12693884|PMID:12707220|PMID:12737937|PMID:12885340|PMID:12915468|PMID:12952143|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15025725|PMID:15046077|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15324319|PMID:15347835|PMID:15350019|PMID:15477198|PMID:15546588|PMID:15775762|PMID:15858186|PMID:15965644|PMID:16132052|PMID:16186539|PMID:16199547|PMID:16879202|PMID:17042772|PMID:17079357|PMID:17210810|PMID:17240320|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17576681|PMID:17600748|PMID:17828789|PMID:18042412|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:18762941|PMID:19084217|PMID:19159930|PMID:19214108|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:19681031|PMID:19759876|PMID:19787796|PMID:20107990|PMID:20301613|PMID:20471131|PMID:20560808|PMID:21228038|PMID:21243428|PMID:21349849|PMID:21411349|PMID:21452290|PMID:22531912|PMID:22624560|PMID:22890139|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24442307|PMID:24604426|PMID:24729993|PMID:24872867|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26151776|PMID:26153218|PMID:26365338|PMID:26456104|PMID:26799139|PMID:26975792|PMID:27124787|PMID:27173269|PMID:27518069|PMID:27659401|PMID:27667161|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:29404719|PMID:29590070|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9536098|PMID:9546397|PMID:9585606|PMID:9851896|PMID:9851897|PMID:9858853 12138208 HFE homeostatic iron regulator gene DOID:2394 ovarian cancer susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.H63D (human) PMID:16216474|REF_RGD_ID:8694371 12138208 HFE homeostatic iron regulator gene DOID:3132 porphyria cutanea tarda ISO RGD:1345296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20471131|PMID:20560808|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 12138208 HFE homeostatic iron regulator gene DOID:3132 porphyria cutanea tarda no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.C282Y, p.H63D (human) PMID:17137171|REF_RGD_ID:8694367 12138208 HFE homeostatic iron regulator gene DOID:3132 porphyria cutanea tarda susceptibility ISO RGD:1345296 D RGD:7240710 20230517 OMIM 12138208 HFE homeostatic iron regulator gene DOID:3393 coronary artery disease no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD PMID:12746412|REF_RGD_ID:1582673 12138208 HFE homeostatic iron regulator gene DOID:3407 carotid artery disease no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD PMID:16886838|REF_RGD_ID:1582684 12138208 HFE homeostatic iron regulator gene DOID:341 peripheral vascular disease no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD PMID:15175819|REF_RGD_ID:1582671 12138208 HFE homeostatic iron regulator gene DOID:409 liver disease ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) PMID:30651232|REF_RGD_ID:14746965 12138208 HFE homeostatic iron regulator gene DOID:4346 variegate porphyria ISO RGD:1345296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Variegate porphyria PMID:10194428|PMID:10381492|PMID:10401000|PMID:10431233|PMID:10660483|PMID:10953950|PMID:11040194|PMID:11336458|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11875012|PMID:11904676|PMID:12241803|PMID:12377814|PMID:12429850|PMID:12436244|PMID:12537660|PMID:12542741|PMID:12584229|PMID:12681966|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:12952143|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15025725|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15350019|PMID:15477198|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17210810|PMID:17240320|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17576681|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19214108|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:19681031|PMID:19759876|PMID:19787796|PMID:20107990|PMID:20301613|PMID:20471131|PMID:20560808|PMID:20609690|PMID:20722017|PMID:21243428|PMID:21349849|PMID:21411349|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27173269|PMID:27518069|PMID:27659401|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:29404719|PMID:29590070|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9536098|PMID:9585606|PMID:9851896|PMID:9851897 12138208 HFE homeostatic iron regulator gene DOID:4346 variegate porphyria susceptibility ISO RGD:1345296 D RGD:7240710 20230517 OMIM 12138208 HFE homeostatic iron regulator gene DOID:4971 myelofibrosis no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.H63D (c.408C>G) (rs1799945) (human) PMID:19258483|REF_RGD_ID:10755491 12138208 HFE homeostatic iron regulator gene DOID:4971 myelofibrosis susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.C282Y (c.1066G>A) (rs1800562) (human) PMID:19258483|REF_RGD_ID:10755491 12138208 HFE homeostatic iron regulator gene DOID:5082 liver cirrhosis ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.H63D, p.C282Y (human) PMID:27816425|REF_RGD_ID:14701047 12138208 HFE homeostatic iron regulator gene DOID:574 peripheral nervous system disease ISO RGD:1345296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 12138208 HFE homeostatic iron regulator gene DOID:5844 myocardial infarction no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD PMID:12850485|REF_RGD_ID:1582672 12138208 HFE homeostatic iron regulator gene DOID:5844 myocardial infarction susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD PMID:10491370|REF_RGD_ID:1582697 12138208 HFE homeostatic iron regulator gene DOID:630 genetic disease ISO RGD:1345296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 12138208 HFE homeostatic iron regulator gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C282Y (human) PMID:16047841|REF_RGD_ID:8694357 12138208 HFE homeostatic iron regulator gene DOID:684 hepatocellular carcinoma ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis;DNA:missense mutation:cds:p.C282Y (human) PMID:20019189|REF_RGD_ID:2317357 12138208 HFE homeostatic iron regulator gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1345296 D RGD:9068941 20200609 RGD PMID:29642405|REF_RGD_ID:14746967 12138208 HFE homeostatic iron regulator gene DOID:7148 rheumatoid arthritis ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) PMID:30651232|REF_RGD_ID:14746965 12138208 HFE homeostatic iron regulator gene DOID:8398 osteoarthritis ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) PMID:30651232|REF_RGD_ID:14746965 12138208 HFE homeostatic iron regulator gene DOID:8437 intestinal obstruction ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with cystic fibrosis;DNA:missense mutation: :p.H63D (human) PMID:30291871|REF_RGD_ID:14701045 12138208 HFE homeostatic iron regulator gene DOID:8466 retinal degeneration ISO RGD:736272 D RGD:9068941 20200609 RGD PMID:19715555|REF_RGD_ID:8694351 12138208 HFE homeostatic iron regulator gene DOID:853 polymyalgia rheumatica ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) PMID:30657865|REF_RGD_ID:14746966 12138208 HFE homeostatic iron regulator gene DOID:870 neuropathy ISO RGD:1345296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 12138208 HFE homeostatic iron regulator gene DOID:8778 Crohn's disease treatment ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:SNP: :rs2071303 (human) PMID:27115882|REF_RGD_ID:14701051 12138208 HFE homeostatic iron regulator gene DOID:8947 diabetic retinopathy ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.C282Y (human) PMID:15347835|REF_RGD_ID:8694362 12138208 HFE homeostatic iron regulator gene DOID:8997 polycythemia vera no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.H63D (c.408C>G) (rs1799945) (human) PMID:19258483|REF_RGD_ID:10755491 12138208 HFE homeostatic iron regulator gene DOID:8997 polycythemia vera susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.C282Y (c.1066G>A) (rs1800562) (human) PMID:19258483|REF_RGD_ID:10755491 12138208 HFE homeostatic iron regulator gene DOID:9000300 Refractory Anemia ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Thrombocytosis;DNA:missense mutation: :p.C282Y (human) PMID:17654685|REF_RGD_ID:10755539 12138208 HFE homeostatic iron regulator gene DOID:9000300 Refractory Anemia no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Thrombocytosis;DNA:missense mutation: :p.H63D (human) PMID:17654685|REF_RGD_ID:10755539 12138208 HFE homeostatic iron regulator gene DOID:9000412 Presenile and Senile Dementia ISO RGD:1345296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Presenile and senile dementia PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20471131|PMID:20560808|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 12138208 HFE homeostatic iron regulator gene DOID:9000641 Pain ISO RGD:1345296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pain PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 12138208 HFE homeostatic iron regulator gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:2793 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, Kupffer cell (rat) PMID:18599584|REF_RGD_ID:8694397 12138208 HFE homeostatic iron regulator gene DOID:9002165 Diabetic Nephropathies ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.C282Y (human) PMID:15347835|REF_RGD_ID:8694362 12138208 HFE homeostatic iron regulator gene DOID:9003936 Cardiomegaly ISO RGD:736272 D RGD:9068941 20200609 RGD associated with hemochromatosis PMID:28720890|REF_RGD_ID:14746969 12138208 HFE homeostatic iron regulator gene DOID:9003996 Birth Weight ISO RGD:1345296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20659343 12138208 HFE homeostatic iron regulator gene DOID:9004272 Varicose Ulcer onset ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Chronic Venous Disease;DNA:missense mutation:cds:p.H63D (human) PMID:16678024|REF_RGD_ID:8694379 12138208 HFE homeostatic iron regulator gene DOID:9004272 Varicose Ulcer susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Chronic Venous Disease;DNA:missense mutation:cds:p.C282Y (human) PMID:16102632|REF_RGD_ID:1582685 12138208 HFE homeostatic iron regulator gene DOID:9005725 Iron Overload ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C282Y (human) PMID:14636644|REF_RGD_ID:10755536 12138208 HFE homeostatic iron regulator gene DOID:9005725 Iron Overload ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia;DNA:missense mutation: :p.H63D (human) PMID:11869934|REF_RGD_ID:10755541 12138208 HFE homeostatic iron regulator gene DOID:9005725 Iron Overload no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :multiple PMID:14636644|REF_RGD_ID:10755536 12138208 HFE homeostatic iron regulator gene DOID:9005725 Iron Overload no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.C282Y, p.H63D (human) PMID:10895137|REF_RGD_ID:10755542 12138208 HFE homeostatic iron regulator gene DOID:9005734 Abdominal Pain ISO RGD:1345296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abdominal pain PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 12138208 HFE homeostatic iron regulator gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1345296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 12138208 HFE homeostatic iron regulator gene DOID:9006465 Meconium Ileus ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with cystic fibrosis;DNA:missense mutation: :p.H63D (human) PMID:30291871|REF_RGD_ID:14701045 12138208 HFE homeostatic iron regulator gene DOID:9006534 Nervous System Malformations ISO RGD:1345296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 12138208 HFE homeostatic iron regulator gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19444013|PMID:19554541|PMID:20301613|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23953397|PMID:24033266|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 12138208 HFE homeostatic iron regulator gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 12138208 HFE homeostatic iron regulator gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD PMID:11545759|REF_RGD_ID:1582695 12138208 HFE homeostatic iron regulator gene DOID:9008520 Chronic Pain ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) PMID:30657865|REF_RGD_ID:14746966 12138208 HFE homeostatic iron regulator gene DOID:9008824 Sarcopenia ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) PMID:30657865|REF_RGD_ID:14746966 12138208 HFE homeostatic iron regulator gene DOID:9008914 Lead Poisoning ISO RGD:1345296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20659343 12138208 HFE homeostatic iron regulator gene DOID:9256 colorectal cancer susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype:cds:p.C282Y (human) PMID:10383894|REF_RGD_ID:8694350 12138208 HFE homeostatic iron regulator gene DOID:9351 diabetes mellitus ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) PMID:30651232|REF_RGD_ID:14746965 12138208 HFE homeostatic iron regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with cystic fibrosis;DNA:missense mutation: :p.C282Y (human) PMID:30291871|REF_RGD_ID:14701045 12138208 HFE homeostatic iron regulator gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.H63D (human) PMID:20097100|REF_RGD_ID:8694381 12138208 HFE homeostatic iron regulator gene DOID:9452 fatty liver disease no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD Non-alcoholic steatohepatitis (NASH) PMID:12105842|REF_RGD_ID:1601460 12138208 HFE homeostatic iron regulator gene DOID:9538 multiple myeloma susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype:cds:p.C282Y (human) PMID:10383894|REF_RGD_ID:8694350 12138208 HFE homeostatic iron regulator gene DOID:9663 aphthous stomatitis ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.H63D (human) PMID:28950260|REF_RGD_ID:14746964 12138208 HFE homeostatic iron regulator gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.H63D (human) PMID:17107905|REF_RGD_ID:10755558 12138208 HFE homeostatic iron regulator gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C282Y (human) PMID:10627122|REF_RGD_ID:10755557 12138208 HFE homeostatic iron regulator gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.H63D (human) PMID:10627122|REF_RGD_ID:10755557 12138208 HFE homeostatic iron regulator gene DOID:9970 obesity ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutations:CDS:p.C282Y, p.H63D (human) PMID:10705106|REF_RGD_ID:1601449 12138233 ZKSCAN2 zinc finger with KRAB and SCAN domains 2 gene DOID:630 genetic disease ISO RGD:1605808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12138247 RIMBP2 RIMS binding protein 2 gene DOID:630 genetic disease ISO RGD:1606822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12138431 LOC106559183 zinc finger protein 345 gene DOID:630 genetic disease ISO RGD:1350063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12138460 GNAQ G protein subunit alpha q gene DOID:0080075 Neu-Laxova syndrome 2 ISO RGD:731425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neu-Laxova syndrome 2 PMID:17436247|PMID:25152457|PMID:28492532 12138460 GNAQ G protein subunit alpha q gene DOID:0111529 familial multiple nevi flammei ISO RGD:731425 D RGD:7240710 20180214 OMIM 12138460 GNAQ G protein subunit alpha q gene DOID:0111529 familial multiple nevi flammei ISO RGD:731425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial multiple nevi flammei | ClinVar Annotator: match by term: Port-wine stain familial multiple PMID:23656586|PMID:25188413|PMID:25741868 12138460 GNAQ G protein subunit alpha q gene DOID:0111563 Sturge-Weber syndrome ISO RGD:731425 D RGD:7240710 20180130 OMIM 12138460 GNAQ G protein subunit alpha q gene DOID:0111563 Sturge-Weber syndrome ISO RGD:731425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sturge-Weber syndrome PMID:23656586|PMID:25188413|PMID:25741868 12138460 GNAQ G protein subunit alpha q gene DOID:1247 blood coagulation disease ISO RGD:731425 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9296496 12138460 GNAQ G protein subunit alpha q gene DOID:12930 dilated cardiomyopathy ISO RGD:1550022 D RGD:9068941 20200609 RGD PMID:9811897|REF_RGD_ID:1598475 12138460 GNAQ G protein subunit alpha q gene DOID:12930 dilated cardiomyopathy ISO RGD:1550022 D RGD:9068941 20220825 MouseDO 12138460 GNAQ G protein subunit alpha q gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:731425 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16267159 12138460 GNAQ G protein subunit alpha q gene DOID:1324 lung cancer ISO RGD:731425 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12138460 GNAQ G protein subunit alpha q gene DOID:1682 congenital heart disease ISO RGD:731425 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9687499 12138460 GNAQ G protein subunit alpha q gene DOID:1909 melanoma ISO RGD:731425 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Melanoma PMID:1328859|PMID:18719078|PMID:19078957|PMID:21083380|PMID:22253748|PMID:22653968|PMID:22733540|PMID:22808163|PMID:23656586|PMID:25157968|PMID:25188413|PMID:2549426|PMID:25741868 12138460 GNAQ G protein subunit alpha q gene DOID:2926 Klippel-Trenaunay syndrome ISO RGD:731425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angio-osteohypertrophy syndrome PMID:23656586|PMID:25188413|PMID:25741868 12138460 GNAQ G protein subunit alpha q gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731425 D RGD:9068941 20210423 RGD PMID:24518087|REF_RGD_ID:126781753 12138460 GNAQ G protein subunit alpha q gene DOID:6000 congestive heart failure ISO RGD:1550022 D RGD:9068941 20220825 MouseDO 12138460 GNAQ G protein subunit alpha q gene DOID:6000 congestive heart failure disease_progression ISO RGD:731425 D RGD:9068941 20210423 RGD DNA:polymorphism:promoter:[-694C>T;-695G>T] (human) PMID:17720980|REF_RGD_ID:126781754 12138460 GNAQ G protein subunit alpha q gene DOID:6000 congestive heart failure no_association ISO RGD:731425 D RGD:9068941 20210423 RGD DNA:polymorphisms:promoter:multiple PMID:17720980|REF_RGD_ID:126781754 12138460 GNAQ G protein subunit alpha q gene DOID:6039 uveal melanoma ISO RGD:731425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uveal melanoma PMID:1328859|PMID:18719078|PMID:19078957|PMID:21083380|PMID:22253748|PMID:22653968|PMID:22733540|PMID:22808163|PMID:25157968|PMID:2549426 12138460 GNAQ G protein subunit alpha q gene DOID:630 genetic disease ISO RGD:731425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12138460 GNAQ G protein subunit alpha q gene DOID:9001542 Albuminuria ISO RGD:731425 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16267159 12138460 GNAQ G protein subunit alpha q gene DOID:9001616 Port-Wine Stain ISO RGD:731425 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: PORT-WINE STAIN PMID:23656586|PMID:25188413|PMID:25741868 12138460 GNAQ G protein subunit alpha q gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:731425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:1328859|PMID:18719078|PMID:19078957|PMID:21083380|PMID:22253748|PMID:22653968|PMID:22733540|PMID:22808163|PMID:2549426 12138460 GNAQ G protein subunit alpha q gene DOID:9003936 Cardiomegaly ISO RGD:1550022 D RGD:9068941 20200609 RGD PMID:9811897|REF_RGD_ID:1598475 12138460 GNAQ G protein subunit alpha q gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1550022 D RGD:9068941 20200609 RGD PMID:9687499|REF_RGD_ID:737757 12138460 GNAQ G protein subunit alpha q gene DOID:9008731 Craniofacial Abnormalities ISO RGD:731425 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9687499 12138473 LRRC10 leucine rich repeat containing 10 gene DOID:0060224 atrial fibrillation ISO RGD:1348592 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12138473 LRRC10 leucine rich repeat containing 10 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28166811|PMID:28492532 12138473 LRRC10 leucine rich repeat containing 10 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348592 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 12138473 LRRC10 leucine rich repeat containing 10 gene DOID:6000 congestive heart failure ISO RGD:1348592 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12138473 LRRC10 leucine rich repeat containing 10 gene DOID:630 genetic disease ISO RGD:1348592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12138478 OXSR1 oxidative stress responsive kinase 1 gene DOID:0050451 Brugada syndrome ISO RGD:1351310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 12138478 OXSR1 oxidative stress responsive kinase 1 gene DOID:10763 hypertension ISO RGD:1351310 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22949526 12138478 OXSR1 oxidative stress responsive kinase 1 gene DOID:630 genetic disease ISO RGD:1351310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12138478 OXSR1 oxidative stress responsive kinase 1 gene DOID:9001436 Immunodeficiency 68 ISO RGD:1351310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532 12138478 OXSR1 oxidative stress responsive kinase 1 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1351310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 12138507 TCF25 transcription factor 25 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1602223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12138507 TCF25 transcription factor 25 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1602223 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12138507 TCF25 transcription factor 25 gene DOID:13636 Fanconi anemia ISO RGD:1602223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29098742|PMID:9721219 12138507 TCF25 transcription factor 25 gene DOID:630 genetic disease ISO RGD:1602223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12138507 TCF25 transcription factor 25 gene DOID:6846 familial melanoma ISO RGD:1602223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:28492532 12138534 TSPAN12 tetraspanin 12 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1322379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial exudative vitreoretinopathy PMID:25250762|PMID:28041643|PMID:28492532 12138534 TSPAN12 tetraspanin 12 gene DOID:0060844 Norrie disease ISO RGD:1322379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrophia bulborum hereditaria PMID:25250762 12138534 TSPAN12 tetraspanin 12 gene DOID:0111408 exudative vitreoretinopathy 5 ISO RGD:1322379 D RGD:7240710 20180130 OMIM 12138534 TSPAN12 tetraspanin 12 gene DOID:0111408 exudative vitreoretinopathy 5 ISO RGD:1322379 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 5 PMID:15665352|PMID:20159111|PMID:20159112|PMID:21334594|PMID:21552475|PMID:22427576|PMID:25250762|PMID:25352738|PMID:25741868|PMID:28002565|PMID:28492532|PMID:28494495|PMID:31106028|PMID:31987760|PMID:34738848 12138534 TSPAN12 tetraspanin 12 gene DOID:308 early myoclonic encephalopathy ISO RGD:1322379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy PMID:28492532 12138534 TSPAN12 tetraspanin 12 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12138534 TSPAN12 tetraspanin 12 gene DOID:630 genetic disease ISO RGD:1322379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12138534 TSPAN12 tetraspanin 12 gene DOID:8501 fundus dystrophy ISO RGD:1322379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:20159112|PMID:21334594|PMID:28492532|PMID:9536098 12138534 TSPAN12 tetraspanin 12 gene DOID:9002174 Disease Susceptibility ISO RGD:1322379 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20130021 12138534 TSPAN12 tetraspanin 12 gene DOID:9005204 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive ISO RGD:1322379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive PMID:25250762 12138550 MIR381 microRNA mir-381 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1346769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 12138550 MIR381 microRNA mir-381 gene DOID:11446 sciatic neuropathy ISO RGD:2325521 D RGD:9068941 20200609 RGD RNA:decreased expression:spinal cord PMID:30142543|REF_RGD_ID:13838658 12138550 MIR381 microRNA mir-381 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1346769 D RGD:9068941 20200609 RGD PMID:29287202|REF_RGD_ID:13464271 12138550 MIR381 microRNA mir-381 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1346769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12138550 MIR381 microRNA mir-381 gene DOID:9002170 Experimental Neoplasms ISO RGD:1346769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12138550 MIR381 microRNA mir-381 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2325521 D RGD:9068941 20200609 RGD PMID:30142543|REF_RGD_ID:13838658 12138550 MIR381 microRNA mir-381 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1346769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 12138550 MIR381 microRNA mir-381 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2325521 D RGD:9068941 20200609 RGD RNA:decreased expression:kidney PMID:29073721|REF_RGD_ID:13825150 12138581 HSPG2 heparan sulfate proteoglycan 2 gene DOID:0060224 atrial fibrillation ISO RGD:1351428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12138581 HSPG2 heparan sulfate proteoglycan 2 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1351428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12138581 HSPG2 heparan sulfate proteoglycan 2 gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:1558001 D RGD:9068941 20220825 MouseDO 12138581 HSPG2 heparan sulfate proteoglycan 2 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1351428 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12138581 HSPG2 heparan sulfate proteoglycan 2 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1351428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12138581 HSPG2 heparan sulfate proteoglycan 2 gene DOID:0090005 Schwartz-Jampel syndrome 1 ISO RGD:1351428 D RGD:7240710 20180704 OMIM 12138581 HSPG2 heparan sulfate proteoglycan 2 gene DOID:0090005 Schwartz-Jampel syndrome 1 ISO RGD:1351428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar Annotator: match by term: Schwartz-Jampel syndrome type 1 PMID:11038441|PMID:11101850|PMID:11279527|PMID:11941538|PMID:16199547|PMID:16927315|PMID:17213231|PMID:20080505|PMID:20542149|PMID:20644199|PMID:21228398|PMID:23836246|PMID:24088041|PMID:24781210|PMID:24912484|PMID:25504735|PMID:25741868|PMID:25803036|PMID:26467025|PMID:26508570|PMID:26633545|PMID:27268795|PMID:27521129|PMID:27766954|PMID:28242392|PMID:28492532|PMID:29271572|PMID:29302074|PMID:29901129|PMID:30362252 12138581 HSPG2 heparan sulfate proteoglycan 2 gene DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia ISO RGD:1351428 D RGD:7240710 20180130 OMIM 12138581 HSPG2 heparan sulfate proteoglycan 2 gene DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia ISO RGD:1351428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyssegmental Dysplasia | ClinVar Annotator: match by term: Qualitative or quantitative defects of perlecan PMID:25741868|PMID:28492532 12138581 HSPG2 heparan sulfate proteoglycan 2 gene DOID:10763 hypertension ISO RGD:621770 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:8225534|REF_RGD_ID:1624258 12138581 HSPG2 heparan sulfate proteoglycan 2 gene DOID:10907 microcephaly ISO RGD:1351428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12138581 HSPG2 heparan sulfate proteoglycan 2 gene DOID:13481 thanatophoric dysplasia ISO RGD:1558001 D RGD:9068941 20220825 MouseDO OMIM:187600 | OMIM:187601 | OMIM:273680 12138581 HSPG2 heparan sulfate proteoglycan 2 gene DOID:2256 osteochondrodysplasia ISO RGD:1351428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities PMID:25741868|PMID:28492532 12138581 HSPG2 heparan sulfate proteoglycan 2 gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:1351428 D RGD:9068941 20200609 RGD Schwartz-Jampel syndrome, OMIM:255800;DNA:missense mutations, splice-site mutations PMID:11101850|REF_RGD_ID:1624267 12138581 HSPG2 heparan sulfate proteoglycan 2 gene DOID:3407 carotid artery disease ISO RGD:1351428 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:carotid artery PMID:16620836|REF_RGD_ID:1624254 12138581 HSPG2 heparan sulfate proteoglycan 2 gene DOID:4195 hyperglycemia ISO RGD:1351428 D RGD:9068941 20200609 RGD protein:decreased expression:endothelial cell PMID:15056491|REF_RGD_ID:1624255 12138581 HSPG2 heparan sulfate proteoglycan 2 gene DOID:630 genetic disease ISO RGD:1351428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30362252|PMID:30871259|PMID:9536098 12138581 HSPG2 heparan sulfate proteoglycan 2 gene DOID:65 connective tissue disease ISO RGD:1351428 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:16927315|PMID:17576681|PMID:21228398|PMID:24088041|PMID:24781210|PMID:25504735|PMID:25741868|PMID:25803036|PMID:26467025|PMID:26633545|PMID:28492532|PMID:29271572|PMID:9536098 12138581 HSPG2 heparan sulfate proteoglycan 2 gene DOID:9004577 Stuve-Wiedemann Syndrome ISO RGD:1351428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stuve-Wiedemann syndrome PMID:25741868|PMID:28492532 12138581 HSPG2 heparan sulfate proteoglycan 2 gene DOID:9005084 Kniest Like Dysplasia Lethal ISO RGD:1351428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lethal Kniest-like syndrome PMID:11279527|PMID:17576681|PMID:24088041|PMID:24781210|PMID:25504735|PMID:25741868|PMID:25741881|PMID:25803036|PMID:26467025|PMID:26508570|PMID:26633545|PMID:28242392|PMID:28492532|PMID:29271572|PMID:29620724|PMID:29901129|PMID:30362252|PMID:34244600|PMID:34906502|PMID:9536098 12138581 HSPG2 heparan sulfate proteoglycan 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621770 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:9068943|REF_RGD_ID:1624265 12138581 HSPG2 heparan sulfate proteoglycan 2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1351428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12138581 HSPG2 heparan sulfate proteoglycan 2 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1351428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 12138581 HSPG2 heparan sulfate proteoglycan 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10545953 12138581 HSPG2 heparan sulfate proteoglycan 2 gene DOID:9008909 Stuve-Wiedemann Syndrome 1 ISO RGD:1351428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stüve-Wiedemann syndrome PMID:25741868|PMID:28492532 12138683 ANGPT1 angiopoietin 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:733136 D RGD:9068941 20220811 RGD protein:decreased expression:oral mucosa (human) PMID:26044849|REF_RGD_ID:153323290 12138683 ANGPT1 angiopoietin 1 gene DOID:0080940 hereditary angioedema type III ISO RGD:733136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary angioedema, type III PMID:25741868|PMID:28492532 12138683 ANGPT1 angiopoietin 1 gene DOID:10286 prostate carcinoma ISO RGD:733136 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:11326698|REF_RGD_ID:1643336 12138683 ANGPT1 angiopoietin 1 gene DOID:10763 hypertension ISO RGD:733136 D RGD:9068941 20200609 RGD PMID:18285514|REF_RGD_ID:2316068 12138683 ANGPT1 angiopoietin 1 gene DOID:10763 hypertension ISO RGD:733136 D RGD:9068941 20200609 RGD protein:increased expression:plasma, platelet PMID:16942942|REF_RGD_ID:1626157 12138683 ANGPT1 angiopoietin 1 gene DOID:10808 gastric ulcer ISO RGD:628896 D RGD:9068941 20200609 RGD protein:increased expression:stomach PMID:12768384|REF_RGD_ID:1601496 12138683 ANGPT1 angiopoietin 1 gene DOID:2316 brain ischemia ISO RGD:733136 D RGD:9068941 20200609 RGD PMID:17637706|REF_RGD_ID:1643339 12138683 ANGPT1 angiopoietin 1 gene DOID:2394 ovarian cancer ISO RGD:733136 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary PMID:12138242|REF_RGD_ID:2293864 12138683 ANGPT1 angiopoietin 1 gene DOID:2527 nephrosis ISO RGD:628896 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:glomerulus PMID:16626513|REF_RGD_ID:1626164 12138683 ANGPT1 angiopoietin 1 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:733136 D RGD:9068941 20200609 RGD PMID:15517881|REF_RGD_ID:2293863 12138683 ANGPT1 angiopoietin 1 gene DOID:2870 endometrial adenocarcinoma ISO RGD:733136 D RGD:9068941 20200609 RGD protein:increased expression:endometrium epithelium PMID:17295646|REF_RGD_ID:2293852 12138683 ANGPT1 angiopoietin 1 gene DOID:4450 renal cell carcinoma severity ISO RGD:733136 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney PMID:17505508|REF_RGD_ID:1643335 12138683 ANGPT1 angiopoietin 1 gene DOID:5844 myocardial infarction ISO RGD:628896 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:myocardium PMID:15364619|REF_RGD_ID:1626168 12138683 ANGPT1 angiopoietin 1 gene DOID:630 genetic disease ISO RGD:733136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12138683 ANGPT1 angiopoietin 1 gene DOID:6432 pulmonary hypertension ISO RGD:628896 D RGD:9068941 20200609 RGD protein:decreased expression:pulmonary artery PMID:18073453|REF_RGD_ID:2316069 12138683 ANGPT1 angiopoietin 1 gene DOID:8719 in situ carcinoma ISO RGD:628896 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Animal;mRNA:increased expression:mammary gland PMID:15459484|REF_RGD_ID:1626167 12138683 ANGPT1 angiopoietin 1 gene DOID:8947 diabetic retinopathy ISO RGD:733136 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:12000720|REF_RGD_ID:2313818 12138683 ANGPT1 angiopoietin 1 gene DOID:9000040 Hypertrophy ISO RGD:733136 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18502941 12138683 ANGPT1 angiopoietin 1 gene DOID:9000165 Neuromuscular Manifestations ISO RGD:733136 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:30476904 12138683 ANGPT1 angiopoietin 1 gene DOID:9000784 Fibrosis ISO RGD:733136 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18480750|PMID:18626492 12138683 ANGPT1 angiopoietin 1 gene DOID:9001573 Experimental Liver Cirrhosis disease_progression ISO RGD:628896 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:17935226|REF_RGD_ID:1643338 12138683 ANGPT1 angiopoietin 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:733136 D RGD:9068941 20200609 RGD PMID:18344375|REF_RGD_ID:2316067 12138683 ANGPT1 angiopoietin 1 gene DOID:9002955 Nerve Degeneration ISO RGD:733136 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:30476904 12138683 ANGPT1 angiopoietin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:733136 D RGD:9068941 20200609 RGD PMID:19885826|REF_RGD_ID:2316041 12138683 ANGPT1 angiopoietin 1 gene DOID:9004484 Sepsis ISO RGD:733136 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16005988 12138683 ANGPT1 angiopoietin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:628896 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Animal;mRNA:increased expression:mammary gland PMID:15459484|REF_RGD_ID:1626167 12138683 ANGPT1 angiopoietin 1 gene DOID:9005372 Inflammation ISO RGD:733136 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18480750 12138683 ANGPT1 angiopoietin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628896 D RGD:9068941 20200609 RGD PMID:17294737|REF_RGD_ID:1626163 12138683 ANGPT1 angiopoietin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628896 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:15047628|REF_RGD_ID:2313817 12138683 ANGPT1 angiopoietin 1 gene DOID:9007096 Stroke ISO RGD:628896 D RGD:9068941 20200609 RGD PMID:11822892|PMID:17356562|REF_RGD_ID:1626162|REF_RGD_ID:704373 12138683 ANGPT1 angiopoietin 1 gene DOID:9007361 Hereditary Angioedema 5 ISO RGD:733136 D RGD:7240710 20210616 OMIM 12138683 ANGPT1 angiopoietin 1 gene DOID:9007361 Hereditary Angioedema 5 ISO RGD:733136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angioedema, hereditary, 5 PMID:28492532|PMID:28601681|PMID:30689269 12138683 ANGPT1 angiopoietin 1 gene DOID:9007402 Gliosis ISO RGD:733136 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:30476904 12138702 ESYT1 extended synaptotagmin 1 gene DOID:630 genetic disease ISO RGD:733690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12138733 BPIFC BPI fold containing family C gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1323273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 12138733 BPIFC BPI fold containing family C gene DOID:630 genetic disease ISO RGD:1323273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12138733 BPIFC BPI fold containing family C gene DOID:9001750 Glucose-Galactose Malabsorption ISO RGD:1323273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption PMID:28492532 12138769 INPP4A inositol polyphosphate-4-phosphatase type I A gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:68560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:15849264|PMID:21931702|PMID:25741868 12138769 INPP4A inositol polyphosphate-4-phosphatase type I A gene DOID:1059 intellectual disability ISO RGD:68560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12138769 INPP4A inositol polyphosphate-4-phosphatase type I A gene DOID:630 genetic disease ISO RGD:68560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12138819 PSMB8 proteasome 20S subunit beta 8 gene DOID:0050553 JMP syndrome ISO RGD:731895 D RGD:7240710 20180130 OMIM 12138819 PSMB8 proteasome 20S subunit beta 8 gene DOID:0050553 JMP syndrome ISO RGD:731895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:16199547|PMID:20159315|PMID:20534754|PMID:21129723|PMID:21881205|PMID:21953331|PMID:23768303|PMID:24033266|PMID:25741868|PMID:26524591|PMID:28492532|PMID:28895430|PMID:8495043 12138819 PSMB8 proteasome 20S subunit beta 8 gene DOID:0060009 MHC class I deficiency ISO RGD:731895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class I deficiency PMID:28492532 12138819 PSMB8 proteasome 20S subunit beta 8 gene DOID:0080600 COVID-19 ISO RGD:731895 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12138819 PSMB8 proteasome 20S subunit beta 8 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:731895 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:24033266|PMID:25741868|PMID:26524591|PMID:28492532 12138819 PSMB8 proteasome 20S subunit beta 8 gene DOID:630 genetic disease ISO RGD:731895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12138819 PSMB8 proteasome 20S subunit beta 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12138835 NDUFA5 NADH:ubiquinone oxidoreductase subunit A5 gene DOID:10652 Alzheimer's disease ISO RGD:731254 D RGD:9068941 20200609 RGD PMID:19760337|REF_RGD_ID:13801191 12138835 NDUFA5 NADH:ubiquinone oxidoreductase subunit A5 gene DOID:10652 Alzheimer's disease ISO RGD:735249 D RGD:9068941 20200609 RGD PMID:19760337|REF_RGD_ID:13801191 12138835 NDUFA5 NADH:ubiquinone oxidoreductase subunit A5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12138835 NDUFA5 NADH:ubiquinone oxidoreductase subunit A5 gene DOID:9004001 Facial Nerve Injuries ISO RGD:3155 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:8875451|REF_RGD_ID:2302319 12138844 PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:731281 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12138844 PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:731281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 12138844 PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:731281 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:lower in high versus low Gleason score tumors (p<0.05 compared to at least one housekeeping gene) PMID:18336616|REF_RGD_ID:2301729 12138844 PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 gene DOID:1059 intellectual disability ISO RGD:731281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12138844 PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 gene DOID:630 genetic disease ISO RGD:731281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12138844 PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:731281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21750348 12138865 HSF2 heat shock transcription factor 2 gene DOID:0060224 atrial fibrillation ISO RGD:68578 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12138865 HSF2 heat shock transcription factor 2 gene DOID:1826 epilepsy ISO RGD:68578 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12138865 HSF2 heat shock transcription factor 2 gene DOID:630 genetic disease ISO RGD:68578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12138882 NCAPD2 non-SMC condensin I complex subunit D2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1604840 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12138882 NCAPD2 non-SMC condensin I complex subunit D2 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1604840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12138882 NCAPD2 non-SMC condensin I complex subunit D2 gene DOID:0111621 Temtamy syndrome ISO RGD:1604840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12138882 NCAPD2 non-SMC condensin I complex subunit D2 gene DOID:630 genetic disease ISO RGD:1604840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12138882 NCAPD2 non-SMC condensin I complex subunit D2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1604840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12138882 NCAPD2 non-SMC condensin I complex subunit D2 gene DOID:9009171 Primary Autosomal Recessive Microcephaly 21 ISO RGD:1604840 D RGD:7240710 20190315 OMIM 12138882 NCAPD2 non-SMC condensin I complex subunit D2 gene DOID:9009171 Primary Autosomal Recessive Microcephaly 21 ISO RGD:1604840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive PMID:25741868|PMID:27737959 12138923 LPCAT4 lysophosphatidylcholine acyltransferase 4 gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:1604192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 PMID:18458017|PMID:27125413|PMID:28492532 12138923 LPCAT4 lysophosphatidylcholine acyltransferase 4 gene DOID:2717 Bloom syndrome ISO RGD:1604192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12138923 LPCAT4 lysophosphatidylcholine acyltransferase 4 gene DOID:630 genetic disease ISO RGD:1604192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12138923 LPCAT4 lysophosphatidylcholine acyltransferase 4 gene DOID:9256 colorectal cancer ISO RGD:1604192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12138942 TRIM69 tripartite motif containing 69 gene DOID:0050712 AGAT deficiency ISO RGD:1312888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 12138942 TRIM69 tripartite motif containing 69 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1312888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 12138942 TRIM69 tripartite motif containing 69 gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1312888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 PMID:28492532 12138942 TRIM69 tripartite motif containing 69 gene DOID:2717 Bloom syndrome ISO RGD:1312888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12138942 TRIM69 tripartite motif containing 69 gene DOID:630 genetic disease ISO RGD:1312888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12138942 TRIM69 tripartite motif containing 69 gene DOID:9256 colorectal cancer ISO RGD:1312888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:0050700 cardiomyopathy ISO RGD:1352615 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33171190 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625222 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1352615 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:12236 primary biliary cholangitis ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15542527 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:12466 secondary hyperparathyroidism treatment ISO RGD:631345 D RGD:9068941 20200609 RGD PMID:27988213|REF_RGD_ID:13450940 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:13189 gout ISO RGD:1352615 D RGD:7240710 20181003 OMIM 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:13189 gout ISO RGD:1352615 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: GOUT SUSCEPTIBILITY 1 | ClinVar Annotator: match by term: Uric acid concentration, serum, quantitative trait locus 1 PMID:16702730|PMID:16784736|PMID:18834626|PMID:19474787|PMID:19506252|PMID:20130569|PMID:20207952|PMID:20368174|PMID:20679960|PMID:22112610|PMID:22246505|PMID:22246507|PMID:22992668|PMID:23876492|PMID:23930675|PMID:25630984|PMID:25741868|PMID:28322941|PMID:29751792|PMID:29950617|PMID:31857620|PMID:32361904 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:13189 gout susceptibility ISO RGD:1352615 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs2231142(human) PMID:19506252|REF_RGD_ID:13439747 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:13250 diarrhea ISO RGD:1352615 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32387182 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:13270 erythropoietic protoporphyria ISO RGD:1551496 D RGD:9068941 20220825 MouseDO OMIM:177000 | OMIM:300752 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:1824 status epilepticus ISO RGD:631345 D RGD:9068941 20200609 RGD protein:increased expression:brain, astrocyte PMID:16190927|REF_RGD_ID:2315587 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:1920 hyperuricemia ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21821808 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:1920 hyperuricemia ISO RGD:1551496 D RGD:9068941 20220825 MouseDO 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:3459 breast carcinoma ISO RGD:1352615 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:11948115|REF_RGD_ID:2315568 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:3602 toxic encephalopathy susceptibility ISO RGD:1352615 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :421C>A(human) PMID:17938643|REF_RGD_ID:11081146 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:1352615 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.Q141K (human) PMID:15906349|REF_RGD_ID:2315569 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25275603 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20019844 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1352615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:6000 congestive heart failure ISO RGD:1352615 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:630 genetic disease ISO RGD:1352615 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:657 adenoma ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21544799 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:707 B-cell lymphoma susceptibility ISO RGD:1352615 D RGD:9068941 20200609 RGD DNA:SNP: :rs6857600(human) PMID:21918980|REF_RGD_ID:11080977 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:1352615 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :C>A421(human) PMID:26250462|REF_RGD_ID:11081180 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:1352615 D RGD:9068941 20200609 RGD DNA:SNP: :421C>A(human) PMID:24581936|REF_RGD_ID:11081178 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:1352615 D RGD:9068941 20200609 RGD DNA:haplotype:cds: p.Q141K,p.V12M,(rs2231142),(rs2725252)(human) PMID:24123600|REF_RGD_ID:11081181 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:863 nervous system disease ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1352615 D RGD:9068941 20200609 RGD PMID:21640380|REF_RGD_ID:11081147 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1352615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia susceptibility ISO RGD:1352615 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :rs1481012,rs2231142(human) PMID:21918980|REF_RGD_ID:11080977 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:9002457 Experimental Arthritis ISO RGD:631345 D RGD:9068941 20200609 RGD mRNA:decreased expression:small intestine PMID:19152228|REF_RGD_ID:2315573 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1352615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:16702730|PMID:16784736|PMID:18834626|PMID:19474787|PMID:19506252|PMID:20130569|PMID:20207952|PMID:20368174|PMID:20679960|PMID:22112610|PMID:22992668|PMID:23876492|PMID:23930675|PMID:25630984|PMID:28322941|PMID:29751792|PMID:29950617|PMID:31857620|PMID:32361904 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:9004009 Reperfusion Injury ISO RGD:631345 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, altered localization:small intestine PMID:18451542|REF_RGD_ID:2315580 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22767648 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:631345 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex PMID:17915193|REF_RGD_ID:2315584 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1352615 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:21064136|PMID:32387182 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21544799|PMID:22294766 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:9008691 Liver Injury ISO RGD:631345 D RGD:9068941 20200609 RGD PMID:12819005|REF_RGD_ID:1304394 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10930538 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1352615 D RGD:9068941 20200609 RGD PMID:26512967|REF_RGD_ID:11081145 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1352615 D RGD:9068941 20200609 RGD PMID:12145683|REF_RGD_ID:11099971 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:9351 diabetes mellitus ISO RGD:631345 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:28679589|REF_RGD_ID:13439745 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:631345 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:25152023|REF_RGD_ID:14700811 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:9538 multiple myeloma treatment ISO RGD:1352615 D RGD:9068941 20200609 RGD PMID:16917002|PMID:26314844|REF_RGD_ID:11081075|REF_RGD_ID:11081144 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1352615 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell: PMID:12100141|REF_RGD_ID:11081143 12138962 ABCG2 ATP binding cassette subfamily G member 2 gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:1352615 D RGD:9068941 20200609 RGD PMID:15521915|REF_RGD_ID:11081076 12138982 ADAM21 ADAM metallopeptidase domain 21 gene DOID:630 genetic disease ISO RGD:1314846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12138991 CSNK1G3 casein kinase 1 gamma 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731819 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12138991 CSNK1G3 casein kinase 1 gamma 3 gene DOID:630 genetic disease ISO RGD:731819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12138991 CSNK1G3 casein kinase 1 gamma 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12138991 CSNK1G3 casein kinase 1 gamma 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731819 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12139055 BBS1 Bardet-Biedl syndrome 1 gene DOID:0050439 Usher syndrome ISO RGD:1316858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21642631|PMID:22581970|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:28041643|PMID:28492532|PMID:29264490|PMID:30614526|PMID:30718709|PMID:33532864 12139055 BBS1 Bardet-Biedl syndrome 1 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1316858 D RGD:7240710 20180130 OMIM 12139055 BBS1 Bardet-Biedl syndrome 1 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1316858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:10564830|PMID:12118255|PMID:12524598|PMID:12567324|PMID:12677556|PMID:12837689|PMID:12872256|PMID:12920096|PMID:15314642|PMID:15666242|PMID:15770229|PMID:16199547|PMID:16327777|PMID:16582908|PMID:16877420|PMID:17003356|PMID:17065520|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18327255|PMID:18669544|PMID:18766993|PMID:19797195|PMID:19858128|PMID:20120035|PMID:20177705|PMID:20301537|PMID:20472660|PMID:20498079|PMID:20876674|PMID:21052717|PMID:21258341|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22353939|PMID:22410627|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23432027|PMID:23559858|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24400638|PMID:24746959|PMID:25074776|PMID:25170860|PMID:25326635|PMID:25741868|PMID:25780760|PMID:25982971|PMID:25988237|PMID:26261414|PMID:26467025|PMID:26518167|PMID:26566502|PMID:26872967|PMID:27032803|PMID:27434533|PMID:27624628|PMID:27659767|PMID:27788217|PMID:27884173|PMID:27894351|PMID:28041643|PMID:28143435|PMID:28224992|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29191167|PMID:29264490|PMID:29588463|PMID:30076350|PMID:30259503|PMID:30484961|PMID:30614526|PMID:30718709|PMID:31130284|PMID:31534736|PMID:31836858|PMID:32037395|PMID:32165824|PMID:32349990|PMID:32451492|PMID:33532864|PMID:33594065|PMID:34526762|PMID:9536098 12139055 BBS1 Bardet-Biedl syndrome 1 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1316858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 12139055 BBS1 Bardet-Biedl syndrome 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1316858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:15770229|PMID:16327777|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20120035|PMID:20177705|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24746959|PMID:25326635|PMID:25741868|PMID:26261414|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28143435|PMID:28492532|PMID:29264490|PMID:29588463|PMID:30614526|PMID:30718709|PMID:33532864|PMID:34526762|PMID:9536098 12139055 BBS1 Bardet-Biedl syndrome 1 gene DOID:1059 intellectual disability ISO RGD:1316858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12139055 BBS1 Bardet-Biedl syndrome 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1316858 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:10564830|PMID:12118255|PMID:12524598|PMID:12567324|PMID:12677556|PMID:12837689|PMID:12872256|PMID:12920096|PMID:15314642|PMID:15666242|PMID:15770229|PMID:16199547|PMID:16327777|PMID:16786513|PMID:16877420|PMID:17003356|PMID:17065520|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18327255|PMID:18669544|PMID:18766993|PMID:19797195|PMID:19858128|PMID:20120035|PMID:20177705|PMID:20301537|PMID:20472660|PMID:20498079|PMID:20876674|PMID:21052717|PMID:21209035|PMID:21258341|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23432027|PMID:23559858|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24400638|PMID:24611592|PMID:24746959|PMID:25074776|PMID:25170860|PMID:25326635|PMID:25640679|PMID:25741868|PMID:25780760|PMID:25982971|PMID:25988237|PMID:26261414|PMID:26467025|PMID:26518167|PMID:26872967|PMID:27032803|PMID:27434533|PMID:27486776|PMID:27624628|PMID:27659767|PMID:27788217|PMID:27884173|PMID:27894351|PMID:28041643|PMID:28143435|PMID:28224992|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28991257|PMID:29099798|PMID:29191167|PMID:29264490|PMID:29588463|PMID:30076350|PMID:30259503|PMID:30614526|PMID:30718709|PMID:31130284|PMID:31196119|PMID:31534736|PMID:31836858|PMID:31997113|PMID:32037395|PMID:32165824|PMID:32349990|PMID:32451492|PMID:32552793|PMID:33169370|PMID:33532864|PMID:33594065|PMID:34526762|PMID:35886001|PMID:8316268|PMID:9536098 12139055 BBS1 Bardet-Biedl syndrome 1 gene DOID:2018 hyperinsulinism ISO RGD:1316859 D RGD:9068941 20230420 RGD PMID:33722691|REF_RGD_ID:243065268 12139055 BBS1 Bardet-Biedl syndrome 1 gene DOID:2746 glycogen storage disease V ISO RGD:1316858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12139055 BBS1 Bardet-Biedl syndrome 1 gene DOID:630 genetic disease ISO RGD:1316858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:15770229|PMID:16327777|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20177705|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24746959|PMID:25074776|PMID:25326635|PMID:25741868|PMID:25988237|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28341476|PMID:28492532|PMID:29264490|PMID:29588463|PMID:30614526|PMID:30718709|PMID:32349990|PMID:33532864|PMID:33594065|PMID:34526762|PMID:9536098 12139055 BBS1 Bardet-Biedl syndrome 1 gene DOID:8501 fundus dystrophy ISO RGD:1316858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:12920096|PMID:15314642|PMID:15770229|PMID:16199547|PMID:17065520|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20120035|PMID:20177705|PMID:20301537|PMID:20472660|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21520335|PMID:21642631|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:25326635|PMID:25741868|PMID:25780760|PMID:26261414|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29264490|PMID:30614526|PMID:30718709|PMID:33532864|PMID:9536098 12139055 BBS1 Bardet-Biedl syndrome 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1316858 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12139055 BBS1 Bardet-Biedl syndrome 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1316858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12139055 BBS1 Bardet-Biedl syndrome 1 gene DOID:9970 obesity ISO RGD:1316859 D RGD:9068941 20220825 MouseDO OMIM:601665 12139055 BBS1 Bardet-Biedl syndrome 1 gene DOID:9970 obesity ISO RGD:1316859 D RGD:9068941 20230420 RGD PMID:33722691|REF_RGD_ID:243065268 12139055 BBS1 Bardet-Biedl syndrome 1 gene DOID:9970 obesity no_association ISO RGD:1316858 D RGD:9068941 20200609 RGD DNA:mutation: :p.M390R (human) PMID:14993910|REF_RGD_ID:1601314 12139080 SYVN1 synoviolin 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12139080 SYVN1 synoviolin 1 gene DOID:1059 intellectual disability ISO RGD:1603603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12139080 SYVN1 synoviolin 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12139080 SYVN1 synoviolin 1 gene DOID:2746 glycogen storage disease V ISO RGD:1603603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12139080 SYVN1 synoviolin 1 gene DOID:3070 high grade glioma ISO RGD:1603603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12139080 SYVN1 synoviolin 1 gene DOID:630 genetic disease ISO RGD:1603603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139110 ABHD14B abhydrolase domain containing 14B gene DOID:630 genetic disease ISO RGD:1603002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139118 BIRC7 baculoviral IAP repeat containing 7 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12139118 BIRC7 baculoviral IAP repeat containing 7 gene DOID:0050860 colorectal adenoma ISO RGD:1345581 D RGD:9068941 20200609 RGD PMID:21122381|REF_RGD_ID:13217408 12139118 BIRC7 baculoviral IAP repeat containing 7 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1345581 D RGD:9068941 20200609 RGD PMID:21122381|REF_RGD_ID:13217408 12139118 BIRC7 baculoviral IAP repeat containing 7 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1345581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12139118 BIRC7 baculoviral IAP repeat containing 7 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1345581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12139118 BIRC7 baculoviral IAP repeat containing 7 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1345581 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12139118 BIRC7 baculoviral IAP repeat containing 7 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12139118 BIRC7 baculoviral IAP repeat containing 7 gene DOID:1107 esophageal carcinoma disease_progression ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:esophagus (human) PMID:31964418|REF_RGD_ID:153344516 12139118 BIRC7 baculoviral IAP repeat containing 7 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1345581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12139118 BIRC7 baculoviral IAP repeat containing 7 gene DOID:2526 prostate adenocarcinoma exacerbates ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNALincreased expression:prostate gland (human) PMID:31964418|REF_RGD_ID:153344516 12139118 BIRC7 baculoviral IAP repeat containing 7 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:breast (human) PMID:31964418|REF_RGD_ID:153344516 12139118 BIRC7 baculoviral IAP repeat containing 7 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:stomach (human) PMID:31964418|REF_RGD_ID:153344516 12139118 BIRC7 baculoviral IAP repeat containing 7 gene DOID:3948 adrenocortical carcinoma ameliorates ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland (human) PMID:31964418|REF_RGD_ID:153344516 12139118 BIRC7 baculoviral IAP repeat containing 7 gene DOID:3963 thyroid gland carcinoma disease_progression ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:thyroid gland (human) PMID:31964418|REF_RGD_ID:153344516 12139118 BIRC7 baculoviral IAP repeat containing 7 gene DOID:4006 bladder urothelial carcinoma disease_progression ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:urinary bladder (human) PMID:31964418|REF_RGD_ID:153344516 12139118 BIRC7 baculoviral IAP repeat containing 7 gene DOID:4074 pancreatic adenocarcinoma exacerbates ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:pancreas (human) PMID:31964418|REF_RGD_ID:153344516 12139118 BIRC7 baculoviral IAP repeat containing 7 gene DOID:4450 renal cell carcinoma ISO RGD:1345581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17437058|PMID:25401301 12139118 BIRC7 baculoviral IAP repeat containing 7 gene DOID:6039 uveal melanoma exacerbates ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:uvea (human) PMID:31964418|REF_RGD_ID:153344516 12139118 BIRC7 baculoviral IAP repeat containing 7 gene DOID:630 genetic disease ISO RGD:1345581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139118 BIRC7 baculoviral IAP repeat containing 7 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:liver (human) PMID:31964418|REF_RGD_ID:153344516 12139118 BIRC7 baculoviral IAP repeat containing 7 gene DOID:7474 malignant pleural mesothelioma ameliorates ISO RGD:1345581 D RGD:9068941 20220825 RGD mRNA:increased expression:pleura, lung (human) PMID:17253596|REF_RGD_ID:153344528 12139130 THAP4 THAP domain containing 4 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1342863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12139130 THAP4 THAP domain containing 4 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1342863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12139130 THAP4 THAP domain containing 4 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1342863 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12139130 THAP4 THAP domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1342863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12139130 THAP4 THAP domain containing 4 gene DOID:630 genetic disease ISO RGD:1342863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139130 THAP4 THAP domain containing 4 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1342863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12139139 SLC49A3 solute carrier family 49 member 3 gene DOID:0110375 retinitis pigmentosa 40 ISO RGD:1604571 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 40 12139139 SLC49A3 solute carrier family 49 member 3 gene DOID:1856 cherubism ISO RGD:1604571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12139139 SLC49A3 solute carrier family 49 member 3 gene DOID:630 genetic disease ISO RGD:1604571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139139 SLC49A3 solute carrier family 49 member 3 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1604571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 12139165 NPHS2 NPHS2 stomatin family member, podocin gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:736986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12139165 NPHS2 NPHS2 stomatin family member, podocin gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:736986 D RGD:7240710 20180130 OMIM 12139165 NPHS2 NPHS2 stomatin family member, podocin gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:736986 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:10742096|PMID:11729243|PMID:11733557|PMID:11805166|PMID:11805168|PMID:11854170|PMID:12464671|PMID:12608558|PMID:12644922|PMID:12649741|PMID:12707396|PMID:12776285|PMID:14570703|PMID:14675423|PMID:14701729|PMID:14978175|PMID:15015071|PMID:15042551|PMID:15059485|PMID:1523708|PMID:15253708|PMID:15264208|PMID:15322893|PMID:15327385|PMID:15496146|PMID:15504144|PMID:15769810|PMID:15780077|PMID:15817495|PMID:15954915|PMID:15968559|PMID:16199547|PMID:16286890|PMID:16291839|PMID:16354237|PMID:16481888|PMID:16721582|PMID:16810518|PMID:16898497|PMID:16900088|PMID:17109732|PMID:17216259|PMID:17218332|PMID:17371932|PMID:17576681|PMID:17699384|PMID:17899208|PMID:17942957|PMID:18216321|PMID:18380020|PMID:18443213|PMID:18499321|PMID:18596732|PMID:18683072|PMID:18709391|PMID:18726620|PMID:18823551|PMID:19067903|PMID:19145239|PMID:19268410|PMID:19371226|PMID:19406966|PMID:19520069|PMID:19674119|PMID:19812541|PMID:19876656|PMID:20001346|PMID:20333530|PMID:20507940|PMID:20798252|PMID:20947785|PMID:21125408|PMID:21171529|PMID:21355056|PMID:21415313|PMID:21636722|PMID:21722858|PMID:22228437|PMID:22565185|PMID:22578956|PMID:22763815|PMID:23013956|PMID:23242530|PMID:23349334|PMID:23515051|PMID:23595123|PMID:23645318|PMID:23800802|PMID:24033266|PMID:24072147|PMID:24089165|PMID:24227627|PMID:24413855|PMID:24500309|PMID:24509478|PMID:24511133|PMID:24715228|PMID:24742477|PMID:24856380|PMID:24969201|PMID:25060053|PMID:25349199|PMID:25525159|PMID:25599733|PMID:25720465|PMID:25741868|PMID:25852895|PMID:25903641|PMID:26138234|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:26467726|PMID:26594346|PMID:26668027|PMID:26820844|PMID:27885584|PMID:28117080|PMID:28204945|PMID:28385484|PMID:28476686|PMID:28492532|PMID:28529802|PMID:28658201|PMID:28712774|PMID:28780565|PMID:29049388|PMID:29127259|PMID:29382718|PMID:29644057|PMID:29660491|PMID:29869118|PMID:29982877|PMID:30013592|PMID:30241959|PMID:30260545|PMID:30295827|PMID:30348286|PMID:30406062|PMID:30450462|PMID:30609409|PMID:30655312|PMID:30721404|PMID:31027891|PMID:31308032|PMID:31738409|PMID:32129207|PMID:32467597|PMID:32581362|PMID:32604935|PMID:33193607|PMID:33532864|PMID:34405919|PMID:34853150|PMID:8589695|PMID:8606597|PMID:9536098 12139165 NPHS2 NPHS2 stomatin family member, podocin gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:736986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic nephrotic syndrome PMID:10742096|PMID:11729243|PMID:11805166|PMID:11805168|PMID:12464671|PMID:12644922|PMID:12707396|PMID:14570703|PMID:14675423|PMID:14701729|PMID:14978175|PMID:15253708|PMID:15264208|PMID:15496146|PMID:15769810|PMID:16291839|PMID:16354237|PMID:16721582|PMID:16810518|PMID:16898497|PMID:17109732|PMID:17899208|PMID:18216321|PMID:18823551|PMID:19145239|PMID:19406966|PMID:19876656|PMID:20798252|PMID:20947785|PMID:21355056|PMID:21415313|PMID:23349334|PMID:23515051|PMID:23595123|PMID:23645318|PMID:24033266|PMID:24072147|PMID:24227627|PMID:24509478|PMID:24742477|PMID:25349199|PMID:25525159|PMID:25741868|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:26467726|PMID:28492532|PMID:28658201|PMID:28780565|PMID:29382718|PMID:29644057|PMID:29660491|PMID:29982877|PMID:30013592|PMID:30609409|PMID:32129207|PMID:32604935|PMID:33532864|PMID:8589695 12139165 NPHS2 NPHS2 stomatin family member, podocin gene DOID:10976 membranous glomerulonephritis ISO RGD:620461 D RGD:9068941 20200609 RGD PMID:15882266|REF_RGD_ID:1598706 12139165 NPHS2 NPHS2 stomatin family member, podocin gene DOID:1184 nephrotic syndrome ISO RGD:736986 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome PMID:10742096|PMID:11729243|PMID:11805166|PMID:11854170|PMID:12464671|PMID:12649741|PMID:12707396|PMID:14570703|PMID:14675423|PMID:14701729|PMID:14978175|PMID:15042551|PMID:15059485|PMID:15253708|PMID:15322893|PMID:15327385|PMID:15954915|PMID:16481888|PMID:16810518|PMID:16900088|PMID:17371932|PMID:17899208|PMID:17942957|PMID:18216321|PMID:18443213|PMID:18499321|PMID:18823551|PMID:19067903|PMID:19145239|PMID:19268410|PMID:19371226|PMID:19406966|PMID:19520069|PMID:19674119|PMID:20507940|PMID:20798252|PMID:20947785|PMID:21171529|PMID:21355056|PMID:21415313|PMID:21722858|PMID:22228437|PMID:22578956|PMID:22763815|PMID:23013956|PMID:23242530|PMID:23349334|PMID:23515051|PMID:23595123|PMID:23645318|PMID:23800802|PMID:24089165|PMID:24227627|PMID:24500309|PMID:24509478|PMID:24715228|PMID:24742477|PMID:24856380|PMID:24969201|PMID:25349199|PMID:25599733|PMID:25741868|PMID:25852895|PMID:26138234|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:26467726|PMID:28385484|PMID:28492532|PMID:28529802|PMID:28780565|PMID:29049388|PMID:29127259|PMID:29382718|PMID:29644057|PMID:29660491|PMID:29869118|PMID:29982877|PMID:30241959|PMID:30260545|PMID:30348286|PMID:30655312|PMID:31027891|PMID:31738409|PMID:32129207|PMID:32467597|PMID:32581362|PMID:33193607|PMID:33532864|PMID:34405919|PMID:34853150|PMID:8589695 12139165 NPHS2 NPHS2 stomatin family member, podocin gene DOID:1184 nephrotic syndrome treatment ISO RGD:620461 D RGD:9068941 20200609 RGD PMID:15942045|REF_RGD_ID:1598707 12139165 NPHS2 NPHS2 stomatin family member, podocin gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:736986 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:10742096|PMID:11805166|PMID:11805168|PMID:11854170|PMID:12464671|PMID:12644922|PMID:12707396|PMID:12776285|PMID:14570703|PMID:14675423|PMID:14701729|PMID:14978175|PMID:15042551|PMID:1523708|PMID:15253708|PMID:15264208|PMID:15327385|PMID:15496146|PMID:15769810|PMID:15954915|PMID:15968559|PMID:16286890|PMID:16291839|PMID:16481888|PMID:16810518|PMID:16900088|PMID:17109732|PMID:17371932|PMID:17899208|PMID:17942957|PMID:18216321|PMID:18499321|PMID:18683072|PMID:18823551|PMID:19145239|PMID:19268410|PMID:19406966|PMID:19520069|PMID:19812541|PMID:20333530|PMID:20798252|PMID:20947785|PMID:21355056|PMID:21415313|PMID:21636722|PMID:21722858|PMID:22228437|PMID:22578956|PMID:23242530|PMID:23349334|PMID:23515051|PMID:23595123|PMID:23645318|PMID:23800802|PMID:24072147|PMID:24227627|PMID:24509478|PMID:24715228|PMID:24742477|PMID:24969201|PMID:25349199|PMID:25525159|PMID:25599733|PMID:25741868|PMID:26138234|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:26467726|PMID:27885584|PMID:28492532|PMID:28529802|PMID:28658201|PMID:28712774|PMID:29869118|PMID:30241959|PMID:30260545|PMID:30348286|PMID:30655312|PMID:31027891|PMID:31738409|PMID:32129207|PMID:32467597|PMID:32581362|PMID:33193607|PMID:33532864|PMID:34405919|PMID:34853150|PMID:8589695 12139165 NPHS2 NPHS2 stomatin family member, podocin gene DOID:1540 parathyroid carcinoma ISO RGD:736986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12139165 NPHS2 NPHS2 stomatin family member, podocin gene DOID:2527 nephrosis ISO RGD:736986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15684566 12139165 NPHS2 NPHS2 stomatin family member, podocin gene DOID:2590 familial nephrotic syndrome ISO RGD:736986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nephrotic syndrome PMID:15954915|PMID:25741868|PMID:26467025|PMID:28492532 12139165 NPHS2 NPHS2 stomatin family member, podocin gene DOID:557 kidney disease ISO RGD:736986 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:15954915|PMID:25741868|PMID:26467025|PMID:28492532 12139165 NPHS2 NPHS2 stomatin family member, podocin gene DOID:576 proteinuria ISO RGD:736986 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:11805166|PMID:11854170|PMID:12464671|PMID:14675423|PMID:14978175|PMID:15253708|PMID:15327385|PMID:15504144|PMID:15954915|PMID:16481888|PMID:16900088|PMID:17371932|PMID:17899208|PMID:17942957|PMID:18216321|PMID:18499321|PMID:18823551|PMID:19145239|PMID:19268410|PMID:19520069|PMID:20798252|PMID:20947785|PMID:21355056|PMID:21415313|PMID:21722858|PMID:22228437|PMID:22578956|PMID:23242530|PMID:23349334|PMID:23645318|PMID:23800802|PMID:24227627|PMID:24509478|PMID:24715228|PMID:24969201|PMID:25599733|PMID:25741868|PMID:26138234|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:28492532|PMID:28529802|PMID:29869118|PMID:30241959|PMID:30260545|PMID:30348286|PMID:31027891|PMID:31738409|PMID:32129207|PMID:32467597|PMID:33193607|PMID:33532864|PMID:34405919|PMID:34853150 12139165 NPHS2 NPHS2 stomatin family member, podocin gene DOID:630 genetic disease ISO RGD:736986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139165 NPHS2 NPHS2 stomatin family member, podocin gene DOID:784 chronic kidney disease ISO RGD:736986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:10742096|PMID:11729243|PMID:11805166|PMID:11854170|PMID:12649741|PMID:14570703|PMID:14675423|PMID:14978175|PMID:15253708|PMID:15327385|PMID:17371932|PMID:17942957|PMID:18216321|PMID:18443213|PMID:18823551|PMID:19371226|PMID:19406966|PMID:20798252|PMID:20947785|PMID:21171529|PMID:21355056|PMID:21415313|PMID:23242530|PMID:24089165|PMID:24227627|PMID:24500309|PMID:24509478|PMID:24742477|PMID:24856380|PMID:25349199|PMID:25741868|PMID:25852895|PMID:26467025|PMID:28492532|PMID:28780565|PMID:29049388|PMID:29127259|PMID:29382718|PMID:29982877|PMID:30655312|PMID:32129207|PMID:32581362|PMID:8589695 12139165 NPHS2 NPHS2 stomatin family member, podocin gene DOID:9001542 Albuminuria ISO RGD:736986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15684566 12139165 NPHS2 NPHS2 stomatin family member, podocin gene DOID:9004797 Fetal Nutrition Disorders ISO RGD:620461 D RGD:9068941 20230202 RGD associated with maternal low protein diet; protein:decreased expression:kidney (rat) PMID:23977013|REF_RGD_ID:155882570 12139165 NPHS2 NPHS2 stomatin family member, podocin gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:736986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12139165 NPHS2 NPHS2 stomatin family member, podocin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12139180 DKK4 dickkopf WNT signaling pathway inhibitor 4 gene DOID:0090039 torsion dystonia 6 ISO RGD:1318528 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 12139180 DKK4 dickkopf WNT signaling pathway inhibitor 4 gene DOID:0111959 immunodeficiency 15B ISO RGD:1318528 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 12139180 DKK4 dickkopf WNT signaling pathway inhibitor 4 gene DOID:630 genetic disease ISO RGD:1318528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139180 DKK4 dickkopf WNT signaling pathway inhibitor 4 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1318528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 12139188 TMEM207 transmembrane protein 207 gene DOID:2433 epidermal appendage tumor ISO RGD:2299488 D RGD:9068941 20220825 MouseDO 12139188 TMEM207 transmembrane protein 207 gene DOID:5419 schizophrenia ISO RGD:1602436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12139188 TMEM207 transmembrane protein 207 gene DOID:630 genetic disease ISO RGD:1602436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139197 FOXL1 forkhead box L1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1353210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12139197 FOXL1 forkhead box L1 gene DOID:630 genetic disease ISO RGD:1353210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139202 NKTR natural killer cell triggering receptor gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1353165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 12139202 NKTR natural killer cell triggering receptor gene DOID:630 genetic disease ISO RGD:1353165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139241 LOC609748 10 kDa heat shock protein, mitochondrial gene DOID:0050700 cardiomyopathy ISO RGD:733544 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12967636 12139241 LOC609748 10 kDa heat shock protein, mitochondrial gene DOID:630 genetic disease ISO RGD:733544 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139241 LOC609748 10 kDa heat shock protein, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12139246 OR6P1 olfactory receptor family 6 subfamily P member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1347277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12139246 OR6P1 olfactory receptor family 6 subfamily P member 1 gene DOID:630 genetic disease ISO RGD:1347277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139246 OR6P1 olfactory receptor family 6 subfamily P member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12139249 PHLDA1 pleckstrin homology like domain family A member 1 gene DOID:0060224 atrial fibrillation ISO RGD:733133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12139249 PHLDA1 pleckstrin homology like domain family A member 1 gene DOID:1561 cognitive disorder ISO RGD:733133 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:36155068 12139249 PHLDA1 pleckstrin homology like domain family A member 1 gene DOID:3042 allergic contact dermatitis ISO RGD:733133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 12139249 PHLDA1 pleckstrin homology like domain family A member 1 gene DOID:630 genetic disease ISO RGD:733133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139249 PHLDA1 pleckstrin homology like domain family A member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12139254 BANF1 BAF nuclear assembly factor 1 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1342836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 12139254 BANF1 BAF nuclear assembly factor 1 gene DOID:0081334 Nestor-Guillermo progeria syndrome ISO RGD:1342836 D RGD:7240710 20180130 OMIM 12139254 BANF1 BAF nuclear assembly factor 1 gene DOID:0081334 Nestor-Guillermo progeria syndrome ISO RGD:1342836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome PMID:21549337|PMID:23720404|PMID:28492532 12139254 BANF1 BAF nuclear assembly factor 1 gene DOID:1059 intellectual disability ISO RGD:1342836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12139254 BANF1 BAF nuclear assembly factor 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1342836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12139254 BANF1 BAF nuclear assembly factor 1 gene DOID:2746 glycogen storage disease V ISO RGD:1342836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12139254 BANF1 BAF nuclear assembly factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1342836 D RGD:9068941 20230105 RGD mRNA, protein:increased expression:liver (human) PMID:29059470|REF_RGD_ID:155791679 12139254 BANF1 BAF nuclear assembly factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:620662 D RGD:9068941 20230105 RGD mRNA, protein:increased expression:liver (rat) PMID:29059470|REF_RGD_ID:155791679 12139254 BANF1 BAF nuclear assembly factor 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:732240 D RGD:9068941 20230105 RGD PMID:29059470|REF_RGD_ID:155791679 12139254 BANF1 BAF nuclear assembly factor 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1342836 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12139254 BANF1 BAF nuclear assembly factor 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1342836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12139261 RAB21 RAB21, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1350890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139261 RAB21 RAB21, member RAS oncogene family gene DOID:9970 obesity ISO RGD:1350890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 12139282 OR2D2C olfactory receptor family 2 subfamily D member 2C gene DOID:630 genetic disease ISO RGD:1345086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139285 AUNIP aurora kinase A and ninein interacting protein gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1601974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 12139285 AUNIP aurora kinase A and ninein interacting protein gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1601974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12139285 AUNIP aurora kinase A and ninein interacting protein gene DOID:630 genetic disease ISO RGD:1601974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139292 PIGM phosphatidylinositol glycan anchor biosynthesis class M gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1346161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12139292 PIGM phosphatidylinositol glycan anchor biosynthesis class M gene DOID:1540 parathyroid carcinoma ISO RGD:1346161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12139292 PIGM phosphatidylinositol glycan anchor biosynthesis class M gene DOID:630 genetic disease ISO RGD:1346161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12139292 PIGM phosphatidylinositol glycan anchor biosynthesis class M gene DOID:9003871 Venous Thrombosis ISO RGD:1346161 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16767100 12139292 PIGM phosphatidylinositol glycan anchor biosynthesis class M gene DOID:9006834 Glycosylphosphatidylinositol Deficiency ISO RGD:1346161 D RGD:7240710 20180130 OMIM 12139292 PIGM phosphatidylinositol glycan anchor biosynthesis class M gene DOID:9006834 Glycosylphosphatidylinositol Deficiency ISO RGD:1346161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 PMID:16767100|PMID:17442906|PMID:25293775|PMID:28492532|PMID:31445883 12139292 PIGM phosphatidylinositol glycan anchor biosynthesis class M gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12139412 COMMD8 COMM domain containing 8 gene DOID:630 genetic disease ISO RGD:1313413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139421 MLH1 mutL homolog 1 gene DOID:0050465 Muir-Torre syndrome ISO RGD:733729 D RGD:7240710 20180130 OMIM 12139421 MLH1 mutL homolog 1 gene DOID:0050465 Muir-Torre syndrome ISO RGD:733729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas | ClinVar Annotator: match by term: Muir-Torré syndrome PMID:10037723|PMID:10323887|PMID:10422993|PMID:10471527|PMID:10495924|PMID:10534773|PMID:10573010|PMID:10713887|PMID:10874307|PMID:10970186|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11343035|PMID:11376800|PMID:11427529|PMID:11524701|PMID:11555625|PMID:11585727|PMID:11601928|PMID:11781295|PMID:11793442|PMID:11920650|PMID:11948175|PMID:12095971|PMID:12362047|PMID:12386821|PMID:12547705|PMID:12555990|PMID:12624141|PMID:12655568|PMID:12658575|PMID:12810663|PMID:14635101|PMID:14699485|PMID:15173238|PMID:15254659|PMID:15475387|PMID:15520370|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16199547|PMID:16216036|PMID:16395668|PMID:16451135|PMID:16736289|PMID:16769400|PMID:16995940|PMID:17054581|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17312306|PMID:17348456|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18205192|PMID:18383312|PMID:18518984|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18931482|PMID:19072991|PMID:19116412|PMID:19324997|PMID:19419416|PMID:19526325|PMID:19690142|PMID:19698169|PMID:19731080|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20233461|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20864636|PMID:20924129|PMID:20937110|PMID:21056691|PMID:21120944|PMID:21247423|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21636617|PMID:21642682|PMID:21671475|PMID:21681552|PMID:21868491|PMID:21952876|PMID:22252508|PMID:22290698|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22843852|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23354017|PMID:23403630|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23747338|PMID:24032978|PMID:24033266|PMID:24096645|PMID:24278394|PMID:24323032|PMID:24344984|PMID:24362816|PMID:24456667|PMID:24710284|PMID:24728327|PMID:25133505|PMID:25477341|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26053027|PMID:26247049|PMID:26437257|PMID:26467025|PMID:26552419|PMID:26666765|PMID:26681312|PMID:26845104|PMID:26895986|PMID:26898890|PMID:27064304|PMID:27498913|PMID:27535758|PMID:27600092|PMID:27601186|PMID:27606285|PMID:27647783|PMID:27978560|PMID:28157215|PMID:28445943|PMID:28449805|PMID:28492532|PMID:28514183|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29238914|PMID:29345684|PMID:29520894|PMID:29596542|PMID:29887214|PMID:30077346|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30504929|PMID:30521064|PMID:30982232|PMID:30998989|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31697235|PMID:31784484|PMID:32040686|PMID:32295079|PMID:32587781|PMID:32635641|PMID:32659497|PMID:32986223|PMID:33191490|PMID:33309985|PMID:33471991|PMID:33821390|PMID:33868589|PMID:35223509|PMID:36988593|PMID:4063166|PMID:7705822|PMID:8145827|PMID:8198129|PMID:8521398|PMID:8571956|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8872463|PMID:8880570|PMID:8938136|PMID:9234704|PMID:9311737|PMID:9322509|PMID:9377556|PMID:9506527|PMID:9536098|PMID:9697702|PMID:9927033 12139421 MLH1 mutL homolog 1 gene DOID:0060058 lymphoma ISO RGD:733729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15700306 12139421 MLH1 mutL homolog 1 gene DOID:0070271 Lynch syndrome 1 ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:08808596|PMID:10037723|PMID:10082584|PMID:10323887|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10573010|PMID:10601588|PMID:10612827|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10799973|PMID:10829038|PMID:10874307|PMID:10923051|PMID:10956410|PMID:10995807|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11343035|PMID:11376800|PMID:11385712|PMID:11429708|PMID:11524701|PMID:11555625|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11781295|PMID:11839723|PMID:11870161|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12362047|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12419761|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12618391|PMID:12624141|PMID:12655568|PMID:12658575|PMID:12799449|PMID:12810663|PMID:12919140|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:15099349|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15235038|PMID:15253764|PMID:15256438|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15365995|PMID:15365996|PMID:15475387|PMID:15555211|PMID:15563510|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15955785|PMID:15991064|PMID:15996210|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16199547|PMID:16216036|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16616355|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16769400|PMID:16807412|PMID:16830052|PMID:16885385|PMID:16929514|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17054581|PMID:17074586|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17250665|PMID:17267619|PMID:17312306|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18301448|PMID:18307539|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18470917|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18772310|PMID:18792805|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19339519|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19504447|PMID:19526325|PMID:19665066|PMID:19669161|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:19931546|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20413677|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22034109|PMID:22081473|PMID:22136435|PMID:22290698|PMID:22322191|PMID:22453149|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22843852|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23329266|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23523604|PMID:23544471|PMID:23588873|PMID:23640085|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:23797718|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24090359|PMID:24278394|PMID:24302565|PMID:24323032|PMID:24333619 12139421 MLH1 mutL homolog 1 gene DOID:0070271 Lynch syndrome 1 ISO RGD:733729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:24344984|PMID:24362816|PMID:24440087|PMID:24456667|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24933000|PMID:25110875|PMID:25117503|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25712765|PMID:25741868|PMID:25782445|PMID:25823662|PMID:25871441|PMID:25871621|PMID:25882375|PMID:25892863|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26552419|PMID:26580448|PMID:26628864|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26811195|PMID:26845104|PMID:26895986|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27295708|PMID:27435373|PMID:27487738|PMID:27498913|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27831900|PMID:27978560|PMID:28127413|PMID:28135145|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28495237|PMID:28514183|PMID:28526081|PMID:28643016|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29151953|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29288294|PMID:29345684|PMID:29360550|PMID:29368341|PMID:29478780|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29752822|PMID:29785566|PMID:29866690|PMID:29887214|PMID:30019097|PMID:30077346|PMID:30093976|PMID:30212499|PMID:30256826|PMID:30262796|PMID:30322717|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31248605|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31491536|PMID:31494577|PMID:31650731|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31830689|PMID:31857677|PMID:31881334|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32040686|PMID:32068069|PMID:32295079|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32661327|PMID:32741062|PMID:32761968|PMID:32832836|PMID:32849802|PMID:33199489|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:34039291|PMID:34545850|PMID:34680242|PMID:35223509|PMID:35467778|PMID:36073783|PMID:36988593|PMID:4063166|PMID:661956|PMID:7557107|PMID:7584997|PMID:7705822|PMID:7757073|PMID:8198129|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8940269|PMID:9071575|PMID:9218993|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9697702|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9927033 12139421 MLH1 mutL homolog 1 gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:733729 D RGD:7240710 20180130 OMIM 12139421 MLH1 mutL homolog 1 gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2 | ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar Annotator: match by term: Lynch syndrome II PMID:08808596|PMID:10037723|PMID:10082584|PMID:10200055|PMID:10323887|PMID:10348818|PMID:10386556|PMID:10389971|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10480359|PMID:10495924|PMID:10533476|PMID:10564582|PMID:10573010|PMID:10598809|PMID:10601588|PMID:10612827|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10793088|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10970186|PMID:10995807|PMID:11015456|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11389087|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12173039|PMID:12183410|PMID:12362047|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12513688|PMID:12522551|PMID:12547705|PMID:12618391|PMID:12624141|PMID:12655568|PMID:12658575|PMID:12697830|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14762794|PMID:14871975|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15475387|PMID:15494688|PMID:15520370|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15845562|PMID:15849733|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16216036|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16528606|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16995940|PMID:17011982|PMID:17054581|PMID:17074586|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17417778|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17666659|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18307539|PMID:18325052|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:19015241|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19504447|PMID:19526325|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:19931546|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21286667|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21636617 12139421 MLH1 mutL homolog 1 gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2 | ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar Annotator: match by term: Lynch syndrome II PMID:21642682|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21785361|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22585170|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23729658|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24278394|PMID:24292105|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24933000|PMID:24953332|PMID:24989436|PMID:25077178|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25338684|PMID:25430799|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25823662|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26485756|PMID:26510091|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26637282|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27295708|PMID:27300758|PMID:27435373|PMID:27449771|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28259476|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28687356|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29288294|PMID:29338689|PMID:29345684|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29752822|PMID:29758216|PMID:29785566|PMID:29866690|PMID:29887214|PMID:29922827|PMID:30019097|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30623411|PMID:30720243|PMID:30729418|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31248605|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31822864|PMID:31857677|PMID:31867841|PMID:31881334 12139421 MLH1 mutL homolog 1 gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:733729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2 | ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar Annotator: match by term: Lynch syndrome II PMID:31882575|PMID:31948886|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32156018|PMID:32241160|PMID:32295079|PMID:32363481|PMID:32459922|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32959997|PMID:32973888|PMID:32980694|PMID:33191490|PMID:33281875|PMID:33309985|PMID:33471991|PMID:33619096|PMID:33672345|PMID:33693762|PMID:33821390|PMID:33980423|PMID:34039291|PMID:34178123|PMID:34347074|PMID:34359559|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35884469|PMID:36988593|PMID:7557107|PMID:7584997|PMID:7757073|PMID:8128251|PMID:8145827|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8938136|PMID:8940269|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9697702|PMID:9718327|PMID:9806477|PMID:9831355|PMID:9833759|PMID:9927033|PMID:9927034 12139421 MLH1 mutL homolog 1 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Turcot syndrome PMID:08808596|PMID:10037723|PMID:10348818|PMID:10422993|PMID:10480359|PMID:10573010|PMID:10713887|PMID:10861474|PMID:10874307|PMID:10923051|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11208710|PMID:11343035|PMID:11369138|PMID:11389087|PMID:11427529|PMID:11524701|PMID:11585727|PMID:11601928|PMID:11726306|PMID:11748856|PMID:11781295|PMID:11839723|PMID:11879922|PMID:11920458|PMID:11920650|PMID:12067992|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12362047|PMID:12377806|PMID:12624141|PMID:12658575|PMID:12799449|PMID:12810663|PMID:12919137|PMID:14514376|PMID:14635101|PMID:14762794|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15222003|PMID:15254659|PMID:15340264|PMID:15345113|PMID:15475387|PMID:15520370|PMID:15655560|PMID:15713769|PMID:15845562|PMID:15849733|PMID:15864295|PMID:15870828|PMID:15926618|PMID:15991306|PMID:15996210|PMID:16083711|PMID:16142001|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16451135|PMID:16528606|PMID:16724012|PMID:16769400|PMID:16807412|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17054581|PMID:17117178|PMID:17192056|PMID:17210669|PMID:17250665|PMID:17301300|PMID:17312306|PMID:17370310|PMID:17453009|PMID:17510385|PMID:17576681|PMID:17594722|PMID:17889038|PMID:17895478|PMID:18033691|PMID:18094436|PMID:18307539|PMID:18383312|PMID:18389388|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18809606|PMID:18931482|PMID:19015241|PMID:19116412|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19690142|PMID:19697156|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20533529|PMID:20858721|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21120944|PMID:21247423|PMID:21387278|PMID:21404117|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21681552|PMID:21868491|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22252508|PMID:22290698|PMID:22585170|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22875147|PMID:22878509|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23354017|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24096645|PMID:24278394|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24933000|PMID:24953332|PMID:25111426|PMID:25115387|PMID:25133505|PMID:25142776|PMID:25157968|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25579085|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25823662|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26580448|PMID:26637282|PMID:26681312|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27121310|PMID:27152634|PMID:27153395|PMID:27498913|PMID:27600092|PMID:27601186|PMID:27606285|PMID:27629256|PMID:27732944|PMID:27831900|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28591715|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28874130|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29212164|PMID:29238914|PMID:29288294|PMID:29345684|PMID:29360550|PMID:29419868|PMID:29472279|PMID:29506128|PMID:29520894|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29887214|PMID:30077346|PMID:30093976|PMID:30238922|PMID:30262796|PMID:30309722|PMID:30322717|PMID:30362666|PMID:30521064|PMID:30720243|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31207149|PMID:31248605 12139421 MLH1 mutL homolog 1 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Turcot syndrome PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31697235|PMID:31784484|PMID:31822864|PMID:31867841|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32566746|PMID:32587781|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32959997|PMID:33191490|PMID:33281875|PMID:33471991|PMID:33821390|PMID:33980423|PMID:34408140|PMID:35223509|PMID:7757073|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8993979|PMID:9032648|PMID:9234704|PMID:9377556|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9927033|PMID:9927034 12139421 MLH1 mutL homolog 1 gene DOID:10534 stomach cancer ISO RGD:733729 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10471527|PMID:11151427|PMID:12362047|PMID:12547705|PMID:12624141|PMID:12655568|PMID:14871975|PMID:14961575|PMID:15300854|PMID:15309712|PMID:15713769|PMID:15849733|PMID:16199547|PMID:16216036|PMID:16341550|PMID:16451135|PMID:17453009|PMID:17569143|PMID:17576681|PMID:18561205|PMID:19690142|PMID:19731080|PMID:20233461|PMID:21034533|PMID:21311894|PMID:21681552|PMID:22886683|PMID:23760103|PMID:24333619|PMID:24362816|PMID:25110875|PMID:25430799|PMID:25525159|PMID:25712765|PMID:25741868|PMID:25892863|PMID:25980754|PMID:26248088|PMID:26300997|PMID:26437257|PMID:26467025|PMID:27435373|PMID:27601186|PMID:27696107|PMID:28127413|PMID:28492532|PMID:28643016|PMID:29212164|PMID:29237405|PMID:29887214|PMID:30256826|PMID:30504929|PMID:30521064|PMID:31942411|PMID:32761968|PMID:36988593|PMID:8571956|PMID:9536098 12139421 MLH1 mutL homolog 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:733729 D RGD:9068941 20200609 RGD PMID:15296997|REF_RGD_ID:2293518 12139421 MLH1 mutL homolog 1 gene DOID:1324 lung cancer ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:25420488|PMID:26845104|PMID:28492532|PMID:30702970 12139421 MLH1 mutL homolog 1 gene DOID:1324 lung cancer no_association ISO RGD:733729 D RGD:9068941 20210430 RGD DNA:SNP: :9452A>T (rs1540354) (human) PMID:21093954|REF_RGD_ID:126848792 12139421 MLH1 mutL homolog 1 gene DOID:1324 lung cancer susceptibility ISO RGD:733729 D RGD:9068941 20210507 RGD DNA:SNP: :rs1800734 (human) PMID:25252909|REF_RGD_ID:126848798 12139421 MLH1 mutL homolog 1 gene DOID:1520 colon carcinoma ISO RGD:733729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10082584|PMID:10323887|PMID:10386556|PMID:10389971|PMID:10422993|PMID:10480359|PMID:10495924|PMID:10573010|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10777691|PMID:10882759|PMID:11112663|PMID:11139242|PMID:11524701|PMID:11555625|PMID:11748856|PMID:11781295|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12070261|PMID:12173039|PMID:12183410|PMID:12362047|PMID:12362848|PMID:12386821|PMID:12414623|PMID:12419761|PMID:12513688|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12624141|PMID:12655562|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12799449|PMID:12810663|PMID:14504054|PMID:14526391|PMID:14635101|PMID:14699485|PMID:14762794|PMID:15289847|PMID:15300854|PMID:15342696|PMID:15365995|PMID:15365996|PMID:15475387|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15870828|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16636019|PMID:16830052|PMID:16963262|PMID:16995940|PMID:17054581|PMID:17135187|PMID:17192056|PMID:17210669|PMID:17312306|PMID:17453009|PMID:17473388|PMID:17510385|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18726168|PMID:18772310|PMID:18931482|PMID:19072991|PMID:19224586|PMID:19267393|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:20020535|PMID:20045164|PMID:20176959|PMID:20223024|PMID:20233461|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20864636|PMID:20937110|PMID:21120944|PMID:21155023|PMID:21239990|PMID:21286667|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21901500|PMID:21952876|PMID:22136435|PMID:22290698|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22854115|PMID:22883484|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23403630|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24278394|PMID:24292105|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24728327|PMID:24802709|PMID:24933000|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25338684|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25871441|PMID:25871621|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26096739|PMID:26247049|PMID:26248088|PMID:26300997|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26510091|PMID:26557847|PMID:26659639|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26845104|PMID:26888055|PMID:26895986|PMID:27064304|PMID:27093186|PMID:27152634|PMID:27173243|PMID:27295708|PMID:27435373|PMID:27487738|PMID:27553368|PMID:27601186|PMID:27629256|PMID:27831900|PMID:28135145|PMID:28445943|PMID:28492532|PMID:28514183|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29151953|PMID:29288294|PMID:29345684|PMID:29472279|PMID:29505604|PMID:29755653|PMID:29887214|PMID:30077346|PMID:30212499|PMID:30274973|PMID:30322717|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30850667|PMID:31118792|PMID:31273614|PMID:31273885|PMID:31494577|PMID:31666926|PMID:31697235|PMID:31857677|PMID:31882575|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32809219|PMID:32849802|PMID:32885271|PMID:33199489|PMID:33303966|PMID:34221829|PMID:34504932|PMID:8521398|PMID:8581513|PMID:8776590|PMID:8797773|PMID:9071575|PMID:9234704|PMID:9298827|PMID:9311737|PMID:9419403|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9697702|PMID:9845760 12139421 MLH1 mutL homolog 1 gene DOID:1520 colon carcinoma ISO RGD:733729 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10082584|PMID:10323887|PMID:10386556|PMID:10389971|PMID:10422993|PMID:10480359|PMID:10495924|PMID:10573010|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10777691|PMID:10882759|PMID:11112663|PMID:11139242|PMID:11304573|PMID:11524701|PMID:11555625|PMID:11748856|PMID:11781295|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12070261|PMID:12173039|PMID:12183410|PMID:12362047|PMID:12362848|PMID:12386821|PMID:12414623|PMID:12419761|PMID:12513688|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12624141|PMID:12655562|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12799449|PMID:12810663|PMID:14504054|PMID:14526391|PMID:14635101|PMID:14699485|PMID:14762794|PMID:15289847|PMID:15300854|PMID:15342696|PMID:15365995|PMID:15365996|PMID:15475387|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15870828|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16636019|PMID:16830052|PMID:16963262|PMID:16995940|PMID:17054581|PMID:17135187|PMID:17192056|PMID:17210669|PMID:17312306|PMID:17453009|PMID:17473388|PMID:17510385|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18726168|PMID:18772310|PMID:18931482|PMID:19072991|PMID:19224586|PMID:19267393|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:20020535|PMID:20045164|PMID:20176959|PMID:20223024|PMID:20233461|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20864636|PMID:20937110|PMID:21120944|PMID:21155023|PMID:21239990|PMID:21286667|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21901500|PMID:21952876|PMID:22136435|PMID:22290698|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22854115|PMID:22883484|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23403630|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24278394|PMID:24292105|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24728327|PMID:24802709|PMID:24933000|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25338684|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25871441|PMID:25871621|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26096739|PMID:26247049|PMID:26248088|PMID:26300997|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26510091|PMID:26557847|PMID:26659639|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26845104|PMID:26888055|PMID:26895986|PMID:27064304|PMID:27093186|PMID:27152634|PMID:27173243|PMID:27295708|PMID:27435373|PMID:27487738|PMID:27553368|PMID:27601186|PMID:27629256|PMID:27831900|PMID:28135145|PMID:28445943|PMID:28492532|PMID:28514183|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29151953|PMID:29288294|PMID:29345684|PMID:29472279|PMID:29505604|PMID:29755653|PMID:29887214|PMID:30077346|PMID:30212499|PMID:30274973|PMID:30322717|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30850667|PMID:31118792|PMID:31273614|PMID:31273885|PMID:31494577|PMID:31666926|PMID:31697235|PMID:31857677|PMID:31882575|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32809219|PMID:32849802|PMID:32885271|PMID:33199489|PMID:33303966|PMID:34221829|PMID:34504932|PMID:8521398|PMID:8581513|PMID:8776590|PMID:8797773|PMID:9071575|PMID:9234704|PMID:9298827|PMID:9311737|PMID:9419403|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9697702|PMID:9845760 12139421 MLH1 mutL homolog 1 gene DOID:1520 colon carcinoma ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10082584|PMID:10323887|PMID:10386556|PMID:10389971|PMID:10422993|PMID:10480359|PMID:10495924|PMID:10573010|PMID:10612827|PMID:10660333|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10777691|PMID:10882759|PMID:11112663|PMID:11139242|PMID:11304573|PMID:11524701|PMID:11555625|PMID:11748856|PMID:11781295|PMID:11793442|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12067992|PMID:12070261|PMID:12173039|PMID:12183410|PMID:12362047|PMID:12362848|PMID:12386821|PMID:12414623|PMID:12419761|PMID:12513688|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12624141|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12799449|PMID:12810663|PMID:14504054|PMID:14526391|PMID:14635101|PMID:14699485|PMID:14762794|PMID:15289847|PMID:15300854|PMID:15342696|PMID:15365995|PMID:15365996|PMID:15475387|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15870828|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16636019|PMID:16830052|PMID:16963262|PMID:16995940|PMID:17054581|PMID:17135187|PMID:17192056|PMID:17210669|PMID:17312306|PMID:17453009|PMID:17473388|PMID:17510385|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18726168|PMID:18772310|PMID:18931482|PMID:19072991|PMID:19224586|PMID:19267393|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:20020535|PMID:20045164|PMID:20176959|PMID:20223024|PMID:20233461|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20717847|PMID:20864636|PMID:20937110|PMID:21120944|PMID:21155023|PMID:21239990|PMID:21286667|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21901500|PMID:21952876|PMID:22136435|PMID:22290698|PMID:22480969|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22854115|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23403630|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24278394|PMID:24292105|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24802709|PMID:24933000|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25338684|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25871441|PMID:25871621|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26096739|PMID:26247049|PMID:26248088|PMID:26300997|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26510091|PMID:26557847|PMID:26659639|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26845104|PMID:26888055|PMID:26895986|PMID:27064304|PMID:27093186|PMID:27152634|PMID:27173243|PMID:27295708|PMID:27435373|PMID:27487738|PMID:27553368|PMID:27601186|PMID:27602174|PMID:27629256|PMID:27831900|PMID:28135145|PMID:28445943|PMID:28492532|PMID:28514183|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29151953|PMID:29288294|PMID:29345684|PMID:29472279|PMID:29505604|PMID:29755653|PMID:29887214|PMID:30077346|PMID:30212499|PMID:30322717|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30850667|PMID:31118792|PMID:31273614|PMID:31273885|PMID:31494577|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31815095|PMID:31857677|PMID:31882575|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32809219|PMID:32849802|PMID:32885271|PMID:33199489|PMID:33303966|PMID:34221829|PMID:34504932|PMID:7757073|PMID:8521398|PMID:8571956|PMID:8581513|PMID:8776590|PMID:8797773|PMID:9071575|PMID:9234704|PMID:9298827|PMID:9311737|PMID:9419403|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9697702|PMID:9845760 12139421 MLH1 mutL homolog 1 gene DOID:1612 breast cancer ISO RGD:733729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10446963|PMID:10713887|PMID:11606497|PMID:11726306|PMID:11839723|PMID:11920650|PMID:12095971|PMID:15520370|PMID:15943554|PMID:16203774|PMID:16395668|PMID:17011982|PMID:17117178|PMID:17453009|PMID:17510385|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18561205|PMID:18566915|PMID:18809606|PMID:19117025|PMID:19224586|PMID:20373145|PMID:21404117|PMID:21671475|PMID:21681552|PMID:22252508|PMID:22703879|PMID:22736432|PMID:22875147|PMID:22878509|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23354017|PMID:23403630|PMID:23573243|PMID:24033266|PMID:24096645|PMID:24278394|PMID:24344984|PMID:24728327|PMID:25186627|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25871441|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27498913|PMID:27601186|PMID:28466842|PMID:28492532|PMID:28767289|PMID:28874130|PMID:29520894|PMID:29684080|PMID:30504929|PMID:30998989|PMID:31332305|PMID:31391288|PMID:31784484|PMID:32659497|PMID:33471991|PMID:33821390|PMID:9506527|PMID:9718327 12139421 MLH1 mutL homolog 1 gene DOID:1749 squamous cell carcinoma ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 12139421 MLH1 mutL homolog 1 gene DOID:1791 peritoneal carcinoma ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary peritoneal carcinoma PMID:25741868 12139421 MLH1 mutL homolog 1 gene DOID:219 colon cancer ISO RGD:733729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:08808596|PMID:11112663|PMID:11151427|PMID:11601928|PMID:12547705|PMID:14514376|PMID:14635101|PMID:15571801|PMID:15713769|PMID:15849733|PMID:15996210|PMID:16199547|PMID:16216036|PMID:16341550|PMID:16395668|PMID:16451135|PMID:17453009|PMID:17576681|PMID:18415027|PMID:18561205|PMID:18625694|PMID:18931482|PMID:19669161|PMID:19731080|PMID:20223024|PMID:21387278|PMID:21598002|PMID:21642682|PMID:23702729|PMID:24278394|PMID:24362816|PMID:24456667|PMID:25741868|PMID:26248088|PMID:26300997|PMID:26467025|PMID:26681312|PMID:28445943|PMID:28449805|PMID:28492532|PMID:29506128|PMID:33693762|PMID:8808596|PMID:9311737|PMID:9536098 12139421 MLH1 mutL homolog 1 gene DOID:219 colon cancer disease_progression ISO RGD:733729 D RGD:9068941 20210430 RGD PMID:28411881|REF_RGD_ID:126790577 12139421 MLH1 mutL homolog 1 gene DOID:2394 ovarian cancer ISO RGD:733729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:22216297|PMID:23047549|PMID:23573243|PMID:24033266|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30086788|PMID:30267214|PMID:30324682|PMID:32068069|PMID:32255556|PMID:32566746|PMID:33471991|PMID:34172528 12139421 MLH1 mutL homolog 1 gene DOID:2871 endometrial carcinoma ISO RGD:733729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10323887|PMID:10480359|PMID:10732761|PMID:11112663|PMID:11385712|PMID:11429708|PMID:11524701|PMID:11555625|PMID:11601928|PMID:11781295|PMID:11948175|PMID:12112654|PMID:12115348|PMID:12362047|PMID:12373605|PMID:12377806|PMID:12522551|PMID:12547705|PMID:12618391|PMID:12624141|PMID:12655568|PMID:12658575|PMID:12810663|PMID:12919140|PMID:14871975|PMID:15133479|PMID:15300854|PMID:15309712|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15872200|PMID:15926618|PMID:15955785|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16451135|PMID:16830052|PMID:16995940|PMID:17054581|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17453009|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:18373977|PMID:18383312|PMID:18470917|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18772310|PMID:19224586|PMID:19267393|PMID:19690142|PMID:19698169|PMID:19863800|PMID:20020535|PMID:20215533|PMID:20233461|PMID:20937110|PMID:21034533|PMID:21056691|PMID:21311894|PMID:21598002|PMID:21681552|PMID:22322191|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22886683|PMID:22949387|PMID:23329266|PMID:23403630|PMID:23695190|PMID:23760103|PMID:23797718|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24323032|PMID:24333619|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25117503|PMID:25430799|PMID:25637381|PMID:25741868|PMID:25892863|PMID:25980754|PMID:26053027|PMID:26096739|PMID:26248088|PMID:26300997|PMID:26332594|PMID:26437257|PMID:26467025|PMID:26666765|PMID:26681312|PMID:26845104|PMID:26895986|PMID:27153395|PMID:27435373|PMID:27535758|PMID:27600092|PMID:27601186|PMID:27696107|PMID:28127413|PMID:28135145|PMID:28449805|PMID:28492532|PMID:28643016|PMID:28874130|PMID:29212164|PMID:29237405|PMID:29752822|PMID:29887214|PMID:30256826|PMID:30521064|PMID:31054147|PMID:31159747|PMID:31350202|PMID:31491536|PMID:31784484|PMID:31948886|PMID:32295079|PMID:32849802|PMID:33471991|PMID:34039291|PMID:34408140|PMID:34680242|PMID:36988593|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8592341|PMID:8797773|PMID:8872463|PMID:9322509|PMID:9526167|PMID:9536098|PMID:9697702|PMID:9806477|PMID:9833759 12139421 MLH1 mutL homolog 1 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:733729 D RGD:9068941 20210430 RGD mRNA:decreased expression:larynx PMID:23787767|REF_RGD_ID:126848783 12139421 MLH1 mutL homolog 1 gene DOID:3070 high grade glioma ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 2 PMID:25741868|PMID:28492532 12139421 MLH1 mutL homolog 1 gene DOID:3459 breast carcinoma ISO RGD:733729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:15713769|PMID:16083711|PMID:17510385|PMID:20020535|PMID:20533529|PMID:21120944|PMID:21404117|PMID:23403630|PMID:24362816|PMID:25741868|PMID:28492532|PMID:28643016 12139421 MLH1 mutL homolog 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:15340264|PMID:17510385|PMID:18307539|PMID:19419416|PMID:22136435|PMID:22703879|PMID:24033266|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25823662|PMID:28492532 12139421 MLH1 mutL homolog 1 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:733729 D RGD:9068941 20210430 RGD DNA, protein:hypermethylation, decreased expression:promoter, esophagus PMID:21674174|REF_RGD_ID:126790574 12139421 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11260232|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11857745|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12402334|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12697830|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:12938096|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14728922|PMID:14729822|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15494688|PMID:15507669|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528605|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539 12139421 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18547406|PMID:18556772|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22136435|PMID:22144684|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23712482|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:25006859|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26659599|PMID:26659639|PMID:26666765 12139421 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26681312|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27854218|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28591715|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29684080|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32849802|PMID:32914570|PMID:32941469|PMID:32959997|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34404389|PMID:4063166|PMID:5713769|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9482749|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9927033|PMID:9927034 12139421 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18415027|PMID:18470917|PMID:18518984|PMID:18547406|PMID:18556772|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22136435|PMID:22144684|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23712482|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104 12139421 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27854218|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28591715|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32809219|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32941469|PMID:32959997|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34404389|PMID:34504932|PMID:4063166|PMID:5713769|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9927033|PMID:9927034 12139421 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27854218|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28591715|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32133419|PMID:32156018|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32941469|PMID:32959997|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34172528|PMID:34359559|PMID:34404389|PMID:34504932|PMID:4063166|PMID:5713769|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9927033|PMID:9927034 12139421 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:12938096|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14729822|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15494688|PMID:15507669|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528606|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769 12139421 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049 12139421 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096 12139421 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34680242|PMID:35223509|PMID:35263119|PMID:35467778|PMID:36073783|PMID:4063166|PMID:5713769|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034 12139421 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11260232|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11857745|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12110639|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12402334|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12891553|PMID:12919137|PMID:12919140|PMID:12938096|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14728922|PMID:14729822|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15494688|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528605|PMID:16528606|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423 12139421 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18283312|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25006859|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662 12139421 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:2615136|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294 12139421 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35884469|PMID:36073783|PMID:4063166|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034 12139421 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11260232|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11857745|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12110639|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12402334|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12891553|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14728922|PMID:14729822|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15494688|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528605|PMID:16528606|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17690979 12139421 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18283312|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21788563|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25006859|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362 12139421 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:2615136|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311 12139421 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35884469|PMID:36054288|PMID:36073783|PMID:4063166|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034 12139421 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26096739|PMID:2615136|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32587781 12139421 MLH1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35670670|PMID:35884469|PMID:36054288|PMID:36073783|PMID:36988593|PMID:4063166|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034 12139421 MLH1 mutL homolog 1 gene DOID:3905 lung carcinoma ISO RGD:620937 D RGD:9068941 20200609 RGD PMID:21530494|REF_RGD_ID:10045659 12139421 MLH1 mutL homolog 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733729 D RGD:9068941 20210430 RGD PMID:32211850|REF_RGD_ID:126848780 12139421 MLH1 mutL homolog 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:733729 D RGD:9068941 20210507 RGD PMID:18370958|REF_RGD_ID:126848801 12139421 MLH1 mutL homolog 1 gene DOID:3910 lung adenocarcinoma ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:15340264|PMID:17510385|PMID:18307539|PMID:19419416|PMID:22136435|PMID:22703879|PMID:24033266|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25823662|PMID:27993330|PMID:28492532 12139421 MLH1 mutL homolog 1 gene DOID:3948 adrenocortical carcinoma ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 12139421 MLH1 mutL homolog 1 gene DOID:4450 renal cell carcinoma ISO RGD:733729 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16426918|REF_RGD_ID:2293509 12139421 MLH1 mutL homolog 1 gene DOID:4606 bile duct cancer ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:15340264|PMID:17510385|PMID:18307539|PMID:19419416|PMID:22136435|PMID:22703879|PMID:24033266|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25823662|PMID:28492532 12139421 MLH1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10323887|PMID:10348818|PMID:10495924|PMID:10573010|PMID:10709098|PMID:11342971|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11781295|PMID:11839723|PMID:11920458|PMID:11948175|PMID:12362047|PMID:12419761|PMID:12810663|PMID:14688830|PMID:15222003|PMID:15342696|PMID:15613555|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15955785|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21155023|PMID:21239990|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23403630|PMID:23431106|PMID:23573243|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24323032|PMID:24362816|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25115387|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26332594|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27487738|PMID:27553368|PMID:27732944|PMID:27831900|PMID:28090092|PMID:28449805|PMID:28492532|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29505604|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30850667|PMID:30982232|PMID:31118792|PMID:31127692|PMID:31273885|PMID:31386297|PMID:31470354|PMID:31666926|PMID:31784484|PMID:31867841|PMID:32068069|PMID:32255556|PMID:32295079|PMID:32566746|PMID:32710294|PMID:33471991|PMID:7757073|PMID:8581513|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9833759 12139421 MLH1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10323887|PMID:10348818|PMID:10495924|PMID:10573010|PMID:10709098|PMID:11342971|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11781295|PMID:11839723|PMID:11920458|PMID:11948175|PMID:12362047|PMID:12419761|PMID:12810663|PMID:14688830|PMID:15222003|PMID:15342696|PMID:15613555|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15955785|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21155023|PMID:21239990|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23403630|PMID:23431106|PMID:23573243|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24323032|PMID:24362816|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25115387|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26332594|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27487738|PMID:27553368|PMID:27732944|PMID:27831900|PMID:28090092|PMID:28449805|PMID:28492532|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29505604|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30850667|PMID:30982232|PMID:31118792|PMID:31127692|PMID:31273885|PMID:31386297|PMID:31470354|PMID:31666926|PMID:31784484|PMID:31867841|PMID:32068069|PMID:32255556|PMID:32295079|PMID:32566746|PMID:32710294|PMID:32832836|PMID:33471991|PMID:7757073|PMID:8581513|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9833759 12139421 MLH1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10323887|PMID:10348818|PMID:10495924|PMID:10573010|PMID:10709098|PMID:11342971|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11781295|PMID:11839723|PMID:11920458|PMID:11948175|PMID:12362047|PMID:12419761|PMID:12810663|PMID:14688830|PMID:15184898|PMID:15222003|PMID:15342696|PMID:15613555|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15955785|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21155023|PMID:21239990|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23403630|PMID:23431106|PMID:23573243|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24323032|PMID:24362816|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25115387|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26332594|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27487738|PMID:27535758|PMID:27553368|PMID:27732944|PMID:27831900|PMID:28449805|PMID:28492532|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29505604|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30850667|PMID:30982232|PMID:31118792|PMID:31127692|PMID:31273885|PMID:31386297|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31784484|PMID:31867841|PMID:32068069|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32710294|PMID:32719484|PMID:32832836|PMID:33309985|PMID:33471991|PMID:7757073|PMID:8581513|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9833759 12139421 MLH1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10323887|PMID:10348818|PMID:10495924|PMID:10573010|PMID:10709098|PMID:11342971|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11781295|PMID:11839723|PMID:11920458|PMID:11948175|PMID:12362047|PMID:12419761|PMID:12810663|PMID:14688830|PMID:15184898|PMID:15222003|PMID:15342696|PMID:15613555|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15955785|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21155023|PMID:21239990|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23403630|PMID:23431106|PMID:23573243|PMID:23695190|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24323032|PMID:24362816|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25115387|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26332594|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27487738|PMID:27535758|PMID:27553368|PMID:27732944|PMID:27831900|PMID:28449805|PMID:28492532|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29505604|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30623411|PMID:30850667|PMID:30982232|PMID:31118792|PMID:31127692|PMID:31273885|PMID:31332305|PMID:31386297|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31784484|PMID:31867841|PMID:32068069|PMID:32133419|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32710294|PMID:32719484|PMID:32832836|PMID:33309985|PMID:33471991|PMID:7757073|PMID:8581513|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9833759 12139421 MLH1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10323887|PMID:10348818|PMID:10386556|PMID:10389971|PMID:10446963|PMID:10448273|PMID:10495924|PMID:10573010|PMID:10601588|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10861474|PMID:10874307|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11606497|PMID:11726306|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12070261|PMID:12362047|PMID:12377806|PMID:12419761|PMID:12513688|PMID:12547705|PMID:12624141|PMID:12810663|PMID:14512394|PMID:14688830|PMID:15184898|PMID:15222003|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15475387|PMID:15520370|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16203774|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16736289|PMID:16769400|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16995940|PMID:17011982|PMID:17117178|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17370310|PMID:17453009|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18307539|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18792805|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20223024|PMID:20473912|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21868491|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22875147|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23403630|PMID:23431106|PMID:23523604|PMID:23573243|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24278394|PMID:24323032|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24933000|PMID:24953332|PMID:25115387|PMID:25133505|PMID:25157968|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25823662|PMID:25871441|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26249686|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26888055|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27300758|PMID:27487738|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27606285|PMID:27696107|PMID:27732944|PMID:27831900|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29472279|PMID:29505604|PMID:29575718|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30521064|PMID:30623411|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31784484|PMID:31867841|PMID:31882575|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32710294|PMID:32719484|PMID:32832836|PMID:33309985|PMID:33471991|PMID:7757073|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9052445|PMID:9071575|PMID:9298827|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527 12139421 MLH1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9526167|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9833759|PMID:9927033 12139421 MLH1 mutL homolog 1 gene DOID:630 genetic disease ISO RGD:733729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12139421 MLH1 mutL homolog 1 gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:733729 D RGD:9068941 20210507 RGD PMID:23810210|REF_RGD_ID:126848799 12139421 MLH1 mutL homolog 1 gene DOID:8029 sporadic breast cancer ISO RGD:733729 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, breast PMID:12173039|REF_RGD_ID:2293522 12139421 MLH1 mutL homolog 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:733729 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:15807307|REF_RGD_ID:2293515 12139421 MLH1 mutL homolog 1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:733729 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:testis PMID:16309235|REF_RGD_ID:2293510 12139421 MLH1 mutL homolog 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17717427 12139421 MLH1 mutL homolog 1 gene DOID:9001030 Multiple Primary Neoplasms ISO RGD:733729 D RGD:9068941 20200609 RGD PMID:8829664|REF_RGD_ID:1625108 12139421 MLH1 mutL homolog 1 gene DOID:9001642 Intestinal Polyps ISO RGD:733729 D RGD:9068941 20210430 RGD DNA:SNP:p.V384D (human) PMID:25561800|REF_RGD_ID:126790576 12139421 MLH1 mutL homolog 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15583422 12139421 MLH1 mutL homolog 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19032668 12139421 MLH1 mutL homolog 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:733729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colonic Neoplasms | ClinVar Annotator: match by term: Colonic neoplasm PMID:11524701|PMID:11781295|PMID:12658575|PMID:15713769|PMID:15849733|PMID:15872200|PMID:15955785|PMID:16395668|PMID:17054581|PMID:20937110|PMID:24710284|PMID:25741868|PMID:26467025|PMID:26666765|PMID:26895986|PMID:28492532|PMID:28874130|PMID:32658311|PMID:8797773 12139421 MLH1 mutL homolog 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:733729 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:15807307|REF_RGD_ID:2293515 12139421 MLH1 mutL homolog 1 gene DOID:9003892 Mismatch Repair Cancer Syndrome 1 ISO RGD:733729 D RGD:7240710 20201202 OMIM 12139421 MLH1 mutL homolog 1 gene DOID:9003892 Mismatch Repair Cancer Syndrome 1 ISO RGD:733729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 PMID:10422993|PMID:10713887|PMID:10874307|PMID:11208710|PMID:11343035|PMID:11585727|PMID:11920650|PMID:12658575|PMID:14635101|PMID:15173238|PMID:15655560|PMID:15713769|PMID:15849733|PMID:15870828|PMID:15996210|PMID:16769400|PMID:17312306|PMID:17889038|PMID:18561205|PMID:18726168|PMID:19116412|PMID:19690142|PMID:19731080|PMID:20045164|PMID:20052760|PMID:20233461|PMID:20924129|PMID:21056691|PMID:21247423|PMID:21636617|PMID:21681552|PMID:21868491|PMID:22776989|PMID:23047549|PMID:24033266|PMID:24278394|PMID:24344984|PMID:24362816|PMID:24456667|PMID:25525159|PMID:25741868|PMID:26437257|PMID:26467025|PMID:26681312|PMID:27064304|PMID:27498913|PMID:27601186|PMID:27606285|PMID:27978560|PMID:28445943|PMID:28449805|PMID:28492532|PMID:28514183|PMID:28874130|PMID:28944238|PMID:29238914|PMID:29345684|PMID:30077346|PMID:30262796|PMID:30322717|PMID:30521064|PMID:30982232|PMID:31118792|PMID:31248605|PMID:31391288|PMID:32040686|PMID:32635641|PMID:35223509|PMID:8872463|PMID:9377556|PMID:9927033 12139421 MLH1 mutL homolog 1 gene DOID:9005147 Hydatidiform Mole ISO RGD:733729 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell PMID:15338238|REF_RGD_ID:2293517 12139421 MLH1 mutL homolog 1 gene DOID:9005804 Vulvar Neoplasms ISO RGD:733729 D RGD:9068941 20200609 RGD protein:increased expression:vulva PMID:15870899|REF_RGD_ID:2293514 12139421 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10323887|PMID:10348818|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10734316|PMID:10793088|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11292842|PMID:11304573|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12697830|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14985405|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15494688|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17222328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17889038|PMID:17895478|PMID:17931073|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18547406|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153 12139421 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22136435|PMID:22144684|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28591715|PMID:28640387|PMID:28687356 12139421 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28724667|PMID:28727142|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29684080|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32849802|PMID:32914570|PMID:32959997|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34404389|PMID:5713769|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9927033 12139421 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22136435|PMID:22144684|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27854218|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28591715 12139421 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28640387|PMID:28687356|PMID:28724667|PMID:28727142|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32809219|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32959997|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34404389|PMID:34504932|PMID:5713769|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9927033 12139421 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22136435|PMID:22144684|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27854218|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081 12139421 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28528518|PMID:28529006|PMID:28591715|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32133419|PMID:32156018|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32959997|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34172528|PMID:34359559|PMID:34404389|PMID:34504932|PMID:35263119|PMID:5713769|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9927033 12139421 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11066084|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15494688|PMID:15507669|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15677628|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528606|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17666659|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18337503 12139421 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19133695|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24415873|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24612714|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:24989436|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25123297|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25712765|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091 12139421 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26710000|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27013479|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:28975465|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279230|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31780705|PMID:31784484|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32761968|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762 12139421 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34680242|PMID:35223509|PMID:35263119|PMID:35467778|PMID:36073783|PMID:5713769|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9845760|PMID:9927033|PMID:9927034 12139421 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11066084|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12110639|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15494688|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15677628|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528606|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17666659|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18283312|PMID:18301448|PMID:18307539 12139421 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18325052|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19133695|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24415873|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24612714|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:24989436|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25123297|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25712765|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257 12139421 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26710000|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27013479|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:28975465|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30279230|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31780705|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32761968|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32957588|PMID:32959997 12139421 MLH1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35670670|PMID:35884469|PMID:36054288|PMID:36073783|PMID:36988593|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9845760|PMID:9927033|PMID:9927034 12139421 MLH1 mutL homolog 1 gene DOID:9008086 Developmental Disabilities ISO RGD:733729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:11948175|PMID:15475387|PMID:16736289|PMID:17135187|PMID:17210669|PMID:17510385|PMID:21404117|PMID:22843852|PMID:23741719|PMID:25741868|PMID:26467025|PMID:26552419|PMID:28492532|PMID:28514183|PMID:28767289|PMID:30504929|PMID:31332305|PMID:33471991|PMID:9311737 12139421 MLH1 mutL homolog 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18497967|PMID:18718023|PMID:18949393 12139421 MLH1 mutL homolog 1 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 12139421 MLH1 mutL homolog 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:10627141|PMID:11555625|PMID:15300854|PMID:17510385|PMID:17576681|PMID:21404117|PMID:21520333|PMID:23741719|PMID:25741868|PMID:27064304|PMID:28135145|PMID:28152038|PMID:28449805|PMID:28492532|PMID:28514183|PMID:29922827|PMID:31697235|PMID:9536098 12139421 MLH1 mutL homolog 1 gene DOID:9256 colorectal cancer ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:11726306|PMID:12919137|PMID:15849733|PMID:17895478|PMID:18931482|PMID:20587412|PMID:22878509|PMID:24033266|PMID:25741868|PMID:25980754|PMID:26888055|PMID:28492532|PMID:29472279|PMID:29684080|PMID:31843900 12139451 LOC479795 eukaryotic translation initiation factor 3 subunit C gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1626547 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 12139451 LOC479795 eukaryotic translation initiation factor 3 subunit C gene DOID:5419 schizophrenia ISO RGD:1626547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12139451 LOC479795 eukaryotic translation initiation factor 3 subunit C gene DOID:630 genetic disease ISO RGD:1626547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139476 MFSD10 major facilitator superfamily domain containing 10 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1604055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12139476 MFSD10 major facilitator superfamily domain containing 10 gene DOID:1856 cherubism ISO RGD:1604055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12139476 MFSD10 major facilitator superfamily domain containing 10 gene DOID:630 genetic disease ISO RGD:1604055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139493 CDH13 cadherin 13 gene DOID:10283 prostate cancer disease_progression ISO RGD:734374 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:18387661|REF_RGD_ID:2293539 12139493 CDH13 cadherin 13 gene DOID:11054 urinary bladder cancer ISO RGD:734374 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:18094410|REF_RGD_ID:2293014 12139493 CDH13 cadherin 13 gene DOID:1612 breast cancer ISO RGD:734374 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:17764565|REF_RGD_ID:2293542 12139493 CDH13 cadherin 13 gene DOID:1612 breast cancer ISO RGD:734374 D RGD:9068941 20200609 RGD protein:decreased expression:breast duct: PMID:8673923|REF_RGD_ID:734735 12139493 CDH13 cadherin 13 gene DOID:2349 arteriosclerosis ISO RGD:734374 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:11326751|REF_RGD_ID:2293555 12139493 CDH13 cadherin 13 gene DOID:2394 ovarian cancer ISO RGD:734374 D RGD:9068941 20200609 RGD DNA:deletion, hypermethylation PMID:10493953|REF_RGD_ID:2298987 12139493 CDH13 cadherin 13 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:734374 D RGD:9068941 20200609 RGD DNA:hypomethylation PMID:18519763|REF_RGD_ID:2298985 12139493 CDH13 cadherin 13 gene DOID:303 substance-related disorder ISO RGD:619745 D RGD:9068941 20200820 RGD PMID:28387990|REF_RGD_ID:13503340 12139493 CDH13 cadherin 13 gene DOID:303 substance-related disorder ISO RGD:734374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12139493 CDH13 cadherin 13 gene DOID:3459 breast carcinoma ISO RGD:734374 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:11389090|REF_RGD_ID:2293545 12139493 CDH13 cadherin 13 gene DOID:3908 lung non-small cell carcinoma ISO RGD:734374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18337602 12139493 CDH13 cadherin 13 gene DOID:3908 lung non-small cell carcinoma ISO RGD:734374 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:11389090|REF_RGD_ID:2293545 12139493 CDH13 cadherin 13 gene DOID:4247 coronary restenosis ISO RGD:619745 D RGD:9068941 20200609 RGD protein:increased expression:artery, smooth muscle cell PMID:12376824|REF_RGD_ID:2293553 12139493 CDH13 cadherin 13 gene DOID:4362 cervical cancer ISO RGD:734374 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17548682|REF_RGD_ID:2293543 12139493 CDH13 cadherin 13 gene DOID:630 genetic disease ISO RGD:734374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139493 CDH13 cadherin 13 gene DOID:670 amphetamine abuse ISO RGD:734374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12139493 CDH13 cadherin 13 gene DOID:684 hepatocellular carcinoma ISO RGD:734374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18425332|PMID:18553387|PMID:28284560 12139493 CDH13 cadherin 13 gene DOID:9000117 Esophageal Neoplasms ISO RGD:734374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18729198 12139493 CDH13 cadherin 13 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:734374 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17029216|REF_RGD_ID:2293544 12139493 CDH13 cadherin 13 gene DOID:9002304 Prostatic Neoplasms ISO RGD:734374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17288544|PMID:18264096 12139493 CDH13 cadherin 13 gene DOID:9005172 Lung Neoplasms ISO RGD:619745 D RGD:9068941 20200609 RGD associated with Inflammation;DNA:hypermethylation:promoter PMID:17971904|REF_RGD_ID:2293546 12139493 CDH13 cadherin 13 gene DOID:9005172 Lung Neoplasms ISO RGD:734374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18337602 12139493 CDH13 cadherin 13 gene DOID:9005172 Lung Neoplasms ISO RGD:734374 D RGD:9068941 20200609 RGD PMID:9737784|REF_RGD_ID:734736 12139493 CDH13 cadherin 13 gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:734375 D RGD:9068941 20200609 RGD PMID:18316604|REF_RGD_ID:2293540 12139493 CDH13 cadherin 13 gene DOID:9206 Barrett's esophagus ISO RGD:734374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18729198 12139511 TPM4 tropomyosin 4 gene DOID:0060071 pre-malignant neoplasm ISO RGD:736665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 12139511 TPM4 tropomyosin 4 gene DOID:10320 asbestosis ISO RGD:736665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22537621 12139511 TPM4 tropomyosin 4 gene DOID:11476 osteoporosis ISO RGD:736665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12139511 TPM4 tropomyosin 4 gene DOID:2213 hemorrhagic disease ISO RGD:736665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 12139511 TPM4 tropomyosin 4 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12139511 TPM4 tropomyosin 4 gene DOID:630 genetic disease ISO RGD:736665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139511 TPM4 tropomyosin 4 gene DOID:9000117 Esophageal Neoplasms ISO RGD:736665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 12139511 TPM4 tropomyosin 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 12139511 TPM4 tropomyosin 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12139511 TPM4 tropomyosin 4 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:736665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 12139511 TPM4 tropomyosin 4 gene DOID:9004657 Weight Gain ISO RGD:736665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12139533 RSKR ribosomal protein S6 kinase related gene DOID:630 genetic disease ISO RGD:1603276 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139565 CRTC2 CREB regulated transcription coactivator 2 gene DOID:0070048 GAND syndrome ISO RGD:1603540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 12139565 CRTC2 CREB regulated transcription coactivator 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12139565 CRTC2 CREB regulated transcription coactivator 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12139565 CRTC2 CREB regulated transcription coactivator 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12139565 CRTC2 CREB regulated transcription coactivator 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1603540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12139565 CRTC2 CREB regulated transcription coactivator 2 gene DOID:5812 MHC class II deficiency ISO RGD:1603540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12139565 CRTC2 CREB regulated transcription coactivator 2 gene DOID:630 genetic disease ISO RGD:1603540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139565 CRTC2 CREB regulated transcription coactivator 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1308903 D RGD:9068941 20200609 RGD PMID:23595987|REF_RGD_ID:9685169 12139565 CRTC2 CREB regulated transcription coactivator 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12139565 CRTC2 CREB regulated transcription coactivator 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1308903 D RGD:9068941 20200609 RGD PMID:23595987|REF_RGD_ID:9685169 12139565 CRTC2 CREB regulated transcription coactivator 2 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:1308903 D RGD:9068941 20200609 RGD PMID:19706791|REF_RGD_ID:9685172 12139565 CRTC2 CREB regulated transcription coactivator 2 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:1332035 D RGD:9068941 20200609 RGD PMID:19706791|REF_RGD_ID:9685172 12139633 TPO thyroid peroxidase gene DOID:0050328 congenital hypothyroidism ISO RGD:735786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:25741868 12139633 TPO thyroid peroxidase gene DOID:0070126 congenital nongoitrous hypothyroidism 1 ISO RGD:735786 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 PMID:25741868 12139633 TPO thyroid peroxidase gene DOID:0112186 thyroid dyshormonogenesis 2A ISO RGD:735786 D RGD:7240710 20180130 OMIM 12139633 TPO thyroid peroxidase gene DOID:0112186 thyroid dyshormonogenesis 2A ISO RGD:735786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2A | ClinVar Annotator: match by term: THYROID PEROXIDASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 2A PMID:10084596|PMID:10468986|PMID:11061528|PMID:11238503|PMID:11916616|PMID:12213873|PMID:12843174|PMID:12938097|PMID:1401057|PMID:14751036|PMID:15055360|PMID:15279913|PMID:15745925|PMID:17468186|PMID:17547680|PMID:18029453|PMID:23236987|PMID:23512414|PMID:24482635|PMID:24790296|PMID:25241611|PMID:25564141|PMID:25741868|PMID:26565538|PMID:27373559|PMID:27617131|PMID:28492532|PMID:29546359|PMID:30022773|PMID:30240412|PMID:31430255|PMID:32424871|PMID:32425884|PMID:32765423|PMID:34426522|PMID:35002963|PMID:7550241|PMID:8027236|PMID:8964831|PMID:9024270|PMID:9814507 12139633 TPO thyroid peroxidase gene DOID:1059 intellectual disability ISO RGD:735786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12139633 TPO thyroid peroxidase gene DOID:12176 goiter ISO RGD:735786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12564727|PMID:14751036|PMID:17547680 12139633 TPO thyroid peroxidase gene DOID:12361 Graves' disease ISO RGD:735786 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 12139633 TPO thyroid peroxidase gene DOID:1459 hypothyroidism IAGP D RGD:12801476 20230517 OMIA Hypothyroidism, congenital PMID:2307615|PMID:2061865|PMID:8496104|PMID:8116929|PMID:8175472|PMID:8091179|PMID:7730121|PMID:7695146|PMID:7744675|PMID:8592797|PMID:8731132|PMID:8799987|PMID:8885174|PMID:8913019|PMID:9282344|PMID:9444634|PMID:9503354|PMID:9590447|PMID:9682425|PMID:10088086|PMID:10340250|PMID:10340243|PMID:11316303|PMID:11860240|PMID:12416867|PMID:12219595|PMID:12564727|PMID:12741092|PMID:12892299|PMID:14518649|PMID:16451201|PMID:16300118|PMID:17619004|PMID:17619002|PMID:12125189|PMID:21541884|PMID:17197623|PMID:23113744|PMID:23223904|PMID:23683021|PMID:25555336|PMID:25958183|PMID:26478542|PMID:26401340|PMID:26401337|PMID:26261983|PMID:27267591|PMID:26696394|PMID:25290378|PMID:3223852|PMID:1748985|PMID:35610669|PMID:37167252 12139633 TPO thyroid peroxidase gene DOID:2921 glomerulonephritis ISO RGD:735786 D RGD:9068941 20200609 RGD PMID:8393543|REF_RGD_ID:7207483 12139633 TPO thyroid peroxidase gene DOID:417 autoimmune disease ISO RGD:735786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869686 12139633 TPO thyroid peroxidase gene DOID:630 genetic disease ISO RGD:735786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12139633 TPO thyroid peroxidase gene DOID:9000591 Congenital Nongoitrous Hypothyroidism ISO RGD:735786 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: TSH RESISTANCE PMID:25741868 12139633 TPO thyroid peroxidase gene DOID:9004283 Transplant Rejection ISO RGD:735786 D RGD:9068941 20200609 RGD PMID:19506389|REF_RGD_ID:7207487 12139633 TPO thyroid peroxidase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12139633 TPO thyroid peroxidase gene DOID:9007661 Dwarfism ISO RGD:735786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12139633 TPO thyroid peroxidase gene DOID:9008086 Developmental Disabilities ISO RGD:735786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12139653 PON2 paraoxonase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1320575 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12139653 PON2 paraoxonase 2 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:1309954 D RGD:9068941 20200609 RGD PMID:22536512|REF_RGD_ID:8661257 12139653 PON2 paraoxonase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1320575 D RGD:9068941 20200609 RGD DNA:SNPs:multiple PMID:16319130|REF_RGD_ID:5509926 12139653 PON2 paraoxonase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1320575 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C311S (human) PMID:11803456|REF_RGD_ID:1580219 12139653 PON2 paraoxonase 2 gene DOID:1287 cardiovascular system disease ISO RGD:1320575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19152805 12139653 PON2 paraoxonase 2 gene DOID:13810 familial hypercholesterolemia ISO RGD:1320575 D RGD:9068941 20200806 RGD DNA:missense mutation:cds:p.S311C (human) PMID:16776623|REF_RGD_ID:1642625 12139653 PON2 paraoxonase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1320575 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs11981433, association with LD block containing both PON3 and PON2 PMID:16822964|REF_RGD_ID:5509925 12139653 PON2 paraoxonase 2 gene DOID:3393 coronary artery disease severity ISO RGD:1320575 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C311S (human) PMID:12454802|REF_RGD_ID:1580217 12139653 PON2 paraoxonase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12139653 PON2 paraoxonase 2 gene DOID:630 genetic disease ISO RGD:1320575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139653 PON2 paraoxonase 2 gene DOID:8725 vascular dementia ISO RGD:1320575 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C311S (human) PMID:11803456|REF_RGD_ID:1580219 12139653 PON2 paraoxonase 2 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1320575 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C311S (human) PMID:9443862|REF_RGD_ID:1580216 12139653 PON2 paraoxonase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1320575 D RGD:9068941 20200609 RGD associated with type 1 diabetes mellitus;DNA:missense mutation:cds:p.C311S (human) PMID:11918623|REF_RGD_ID:1580218 12139653 PON2 paraoxonase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1320575 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus;DNA:polymorphisms:multiple PMID:11206400|REF_RGD_ID:2313492 12139653 PON2 paraoxonase 2 gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:1320575 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:23327886|REF_RGD_ID:8661240 12139653 PON2 paraoxonase 2 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:1320575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 12139653 PON2 paraoxonase 2 gene DOID:9007096 Stroke ISO RGD:1320575 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus;DNA:missense mutation:cds:p.S311C (human) PMID:12778447|REF_RGD_ID:2313491 12139653 PON2 paraoxonase 2 gene DOID:9007096 Stroke ISO RGD:1320575 D RGD:9068941 20200609 RGD large vessel disease (LVD) stroke;DNA:missense mutation:cds:p.C311S (human) PMID:17406108|REF_RGD_ID:1642614 12139653 PON2 paraoxonase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1320575 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.S311C (human) PMID:18776646|REF_RGD_ID:2313490 12139653 PON2 paraoxonase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1320575 D RGD:9068941 20200609 RGD associated with Diabetic Retinopathy;DNA:missense mutation:cds:p.C310S (human) PMID:10677395|REF_RGD_ID:8547560 12139653 PON2 paraoxonase 2 gene DOID:9970 obesity ISO RGD:1309954 D RGD:9068941 20200609 RGD protein:increased expression:white adipose tissue PMID:21365757|REF_RGD_ID:8661255 12139666 EPO erythropoietin gene DOID:0050700 cardiomyopathy ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16449733|PMID:16731534|PMID:17924179|PMID:17928571 12139666 EPO erythropoietin gene DOID:0050852 limb ischemia treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:23294128|REF_RGD_ID:10400895 12139666 EPO erythropoietin gene DOID:0050908 myelodysplastic syndrome ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12670338|PMID:16076383 12139666 EPO erythropoietin gene DOID:0060903 thrombosis ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14979412|PMID:25013951 12139666 EPO erythropoietin gene DOID:0080290 familial erythrocytosis 5 ISO RGD:735849 D RGD:7240710 20190315 OMIM 12139666 EPO erythropoietin gene DOID:0080290 familial erythrocytosis 5 ISO RGD:735849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythrocytosis, familial, 5 PMID:27651169|PMID:29514032 12139666 EPO erythropoietin gene DOID:10652 Alzheimer's disease treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:22004348|PMID:23813967|REF_RGD_ID:10395389|REF_RGD_ID:10400882 12139666 EPO erythropoietin gene DOID:1074 kidney failure ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22013135 12139666 EPO erythropoietin gene DOID:10763 hypertension ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10694834|PMID:1516988 12139666 EPO erythropoietin gene DOID:10808 gastric ulcer ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20723003 12139666 EPO erythropoietin gene DOID:114 heart disease ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16707910 12139666 EPO erythropoietin gene DOID:11713 diabetic angiopathy ISO RGD:735849 D RGD:7240710 20180130 OMIM 12139666 EPO erythropoietin gene DOID:11713 diabetic angiopathy ISO RGD:735849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 2 PMID:18458324 12139666 EPO erythropoietin gene DOID:11832 visual epilepsy treatment ISO RGD:2559 D RGD:9068941 20200609 RGD PMID:23518641|REF_RGD_ID:10401076 12139666 EPO erythropoietin gene DOID:1184 nephrotic syndrome treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:23128049|REF_RGD_ID:11041725 12139666 EPO erythropoietin gene DOID:12241 beta thalassemia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16225658 12139666 EPO erythropoietin gene DOID:12450 pancytopenia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9051142 12139666 EPO erythropoietin gene DOID:12554 hemolytic-uremic syndrome ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12053072 12139666 EPO erythropoietin gene DOID:1289 neurodegenerative disease ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15816862 12139666 EPO erythropoietin gene DOID:1289 neurodegenerative disease susceptibility ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Brain Injuries PMID:16339796|REF_RGD_ID:10400893 12139666 EPO erythropoietin gene DOID:13025 retinopathy of prematurity ISO RGD:2559 D RGD:9068941 20200609 RGD protein:decreased expression:retina: PMID:24630601|REF_RGD_ID:11041658 12139666 EPO erythropoietin gene DOID:13268 porphyria ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus,nephrosclerosis PMID:17435269|REF_RGD_ID:2313839 12139666 EPO erythropoietin gene DOID:1389 polyneuropathy ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17010629 12139666 EPO erythropoietin gene DOID:14330 Parkinson's disease treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:19727138|REF_RGD_ID:10400901 12139666 EPO erythropoietin gene DOID:1561 cognitive disorder ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20833152 12139666 EPO erythropoietin gene DOID:1588 thrombocytopenia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8260696 12139666 EPO erythropoietin gene DOID:1612 breast cancer ISO RGD:735849 D RGD:9068941 20200609 RGD protein:increased expression:breast: PMID:12118093|REF_RGD_ID:11041669 12139666 EPO erythropoietin gene DOID:1657 ventricular septal defect ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19337937 12139666 EPO erythropoietin gene DOID:1686 glaucoma ISO RGD:2559 D RGD:9068941 20200609 RGD protein:increased expression:retina: PMID:17554621|REF_RGD_ID:11041649 12139666 EPO erythropoietin gene DOID:1686 glaucoma ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:17554621|PMID:19741249|REF_RGD_ID:10401071|REF_RGD_ID:11041649 12139666 EPO erythropoietin gene DOID:178 vascular disease ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25013951 12139666 EPO erythropoietin gene DOID:182 calcinosis ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12148126 12139666 EPO erythropoietin gene DOID:1824 status epilepticus ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16679645|PMID:17166730 12139666 EPO erythropoietin gene DOID:1909 melanoma ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15743794 12139666 EPO erythropoietin gene DOID:224 transient cerebral ischemia treatment ISO RGD:2559 D RGD:9068941 20200609 RGD PMID:22282883|REF_RGD_ID:10401060 12139666 EPO erythropoietin gene DOID:224 transient cerebral ischemia treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:24702327|REF_RGD_ID:11041699 12139666 EPO erythropoietin gene DOID:2355 anemia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10506726|PMID:10713657|PMID:11245434|PMID:11273875|PMID:11454181|PMID:11569724|PMID:11828949|PMID:11981781|PMID:12670280|PMID:12713065|PMID:12820454|PMID:12897097|PMID:12899718|PMID:14568602|PMID:14706663|PMID:15160343|PMID:1516988|PMID:15232364|PMID:15660393|PMID:1574960|PMID:16434484|PMID:16511603|PMID:16637862|PMID:16707910|PMID:16798232|PMID:16949463|PMID:16970215|PMID:16970600|PMID:17058596|PMID:17168855|PMID:17180133|PMID:17288690|PMID:17397412|PMID:17409018|PMID:17559739|PMID:18265628|PMID:18403296|PMID:18611800|PMID:18695134|PMID:1893952|PMID:19015056|PMID:19212639|PMID:19787831|PMID:1982298|PMID:20189893|PMID:20303990|PMID:21860424|PMID:2186273|PMID:2206997|PMID:22174104|PMID:23077460|PMID:7529132|PMID:7602351|PMID:7631396|PMID:7732690|PMID:8202718|PMID:8250662|PMID:8260696|PMID:8418619|PMID:8504984|PMID:9118049|PMID:9616293|PMID:9617462|PMID:9743294 12139666 EPO erythropoietin gene DOID:2355 anemia ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum PMID:15855576|REF_RGD_ID:2313896 12139666 EPO erythropoietin gene DOID:2355 anemia ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies;protein:decreased expression:serum PMID:16681558|REF_RGD_ID:2313843 12139666 EPO erythropoietin gene DOID:3021 acute kidney failure ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21847101|PMID:24561306 12139666 EPO erythropoietin gene DOID:3021 acute kidney failure treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:22209169|PMID:22235348|REF_RGD_ID:10400913|REF_RGD_ID:11041660 12139666 EPO erythropoietin gene DOID:3070 high grade glioma ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:21749867|REF_RGD_ID:10400910 12139666 EPO erythropoietin gene DOID:331 central nervous system disease ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15816862 12139666 EPO erythropoietin gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:735849 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:17368721|REF_RGD_ID:10395391 12139666 EPO erythropoietin gene DOID:3393 coronary artery disease ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25245553 12139666 EPO erythropoietin gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:20547143|PMID:20833153|REF_RGD_ID:10400898|REF_RGD_ID:10401066 12139666 EPO erythropoietin gene DOID:3827 congenital diaphragmatic hernia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27880037 12139666 EPO erythropoietin gene DOID:3891 placental insufficiency treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:20809703|REF_RGD_ID:10400897 12139666 EPO erythropoietin gene DOID:4449 macular retinal edema severity ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:20664492|REF_RGD_ID:10400883 12139666 EPO erythropoietin gene DOID:4676 uremia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12675867 12139666 EPO erythropoietin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12139666 EPO erythropoietin gene DOID:4947 cholangiocarcinoma ISO RGD:2559 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:23052842|REF_RGD_ID:10400912 12139666 EPO erythropoietin gene DOID:5327 retinal detachment ISO RGD:2559 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:retina: PMID:17882708|REF_RGD_ID:11041648 12139666 EPO erythropoietin gene DOID:5327 retinal detachment treatment ISO RGD:2559 D RGD:9068941 20200609 RGD PMID:22020175|REF_RGD_ID:10401069 12139666 EPO erythropoietin gene DOID:557 kidney disease ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20606417 12139666 EPO erythropoietin gene DOID:583 hemolytic anemia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10733367|PMID:16629641|PMID:20446436 12139666 EPO erythropoietin gene DOID:5844 myocardial infarction ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19337937 12139666 EPO erythropoietin gene DOID:5844 myocardial infarction treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:21415704|REF_RGD_ID:10400907 12139666 EPO erythropoietin gene DOID:6000 congestive heart failure treatment ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:20139114|REF_RGD_ID:10401073 12139666 EPO erythropoietin gene DOID:627 severe combined immunodeficiency ISO RGD:10531 D RGD:9068941 20200609 RGD Protein: decreased expression:skin PMID:19826948|REF_RGD_ID:2313831 12139666 EPO erythropoietin gene DOID:630 genetic disease ISO RGD:735849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139666 EPO erythropoietin gene DOID:6432 pulmonary hypertension treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:22559233|REF_RGD_ID:10400914 12139666 EPO erythropoietin gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735849 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 12139666 EPO erythropoietin gene DOID:783 end stage renal disease ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16707910 12139666 EPO erythropoietin gene DOID:8466 retinal degeneration treatment ISO RGD:10531 D RGD:9068941 20200609 RGD PMID:21421996|REF_RGD_ID:10400896 12139666 EPO erythropoietin gene DOID:8725 vascular dementia ISO RGD:2559 D RGD:9068941 20200609 RGD PMID:17037738|REF_RGD_ID:10400891 12139666 EPO erythropoietin gene DOID:8947 diabetic retinopathy ISO RGD:735849 D RGD:9068941 20200609 RGD DNA:snp:promoter:-1125T>G(rs1617640)(human) PMID:18458324|REF_RGD_ID:2313838 12139666 EPO erythropoietin gene DOID:8947 diabetic retinopathy ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18235022|REF_RGD_ID:2313890 12139666 EPO erythropoietin gene DOID:8947 diabetic retinopathy ISO RGD:735849 D RGD:9068941 20200609 RGD protein:increased expression:serum,vitreous body PMID:18670462|REF_RGD_ID:2313837 12139666 EPO erythropoietin gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24508793|REF_RGD_ID:10400906 12139666 EPO erythropoietin gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:22196867|REF_RGD_ID:10401074 12139666 EPO erythropoietin gene DOID:9000046 Poisoning ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15727166 12139666 EPO erythropoietin gene DOID:9000184 Ventricular Fibrillation ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18156309 12139666 EPO erythropoietin gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:23907045|REF_RGD_ID:10400909 12139666 EPO erythropoietin gene DOID:9000656 Penetrating Wounds treatment ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21326299|REF_RGD_ID:10401063 12139666 EPO erythropoietin gene DOID:9000892 Fetal Distress ISO RGD:2559 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain, serum PMID:22099204|REF_RGD_ID:10401064 12139666 EPO erythropoietin gene DOID:9000965 Neoplasm Metastasis ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16699298 12139666 EPO erythropoietin gene DOID:9000998 Brain Injuries ISO RGD:2559 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:18093155|REF_RGD_ID:2293059 12139666 EPO erythropoietin gene DOID:9000998 Brain Injuries ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20833152 12139666 EPO erythropoietin gene DOID:9000998 Brain Injuries treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:23063952|REF_RGD_ID:10401061 12139666 EPO erythropoietin gene DOID:9001542 Albuminuria ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:urine,serum PMID:16921186|REF_RGD_ID:2313841 12139666 EPO erythropoietin gene DOID:9001553 Spinal Cord Compression ISO RGD:2559 D RGD:9068941 20200609 RGD protein:increased expression:neuron, endothelium, glia: PMID:15792521|REF_RGD_ID:11041719 12139666 EPO erythropoietin gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:20539178|REF_RGD_ID:10401059 12139666 EPO erythropoietin gene DOID:9001981 Weight Loss ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8260696 12139666 EPO erythropoietin gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:25769561|REF_RGD_ID:15090809 12139666 EPO erythropoietin gene DOID:9002165 Diabetic Nephropathies ISO RGD:735849 D RGD:9068941 20200609 RGD DNA:snp:promoter:-1125T>G(rs1617640)(human) PMID:18458324|REF_RGD_ID:2313838 12139666 EPO erythropoietin gene DOID:9002165 Diabetic Nephropathies ISO RGD:735849 D RGD:9068941 20200609 RGD Protein:decreased expression:serum PMID:19619913|REF_RGD_ID:2313832 12139666 EPO erythropoietin gene DOID:9002165 Diabetic Nephropathies ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:19356735|REF_RGD_ID:2313833 12139666 EPO erythropoietin gene DOID:9002331 Knee Osteoarthritis treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:25422652|REF_RGD_ID:10400892 12139666 EPO erythropoietin gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18382691 12139666 EPO erythropoietin gene DOID:9002955 Nerve Degeneration ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17010629|PMID:17166730|PMID:19497871|PMID:30837834 12139666 EPO erythropoietin gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2559 D RGD:9068941 20200609 RGD PMID:24034924|REF_RGD_ID:10400911 12139666 EPO erythropoietin gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:22156696|REF_RGD_ID:10401072 12139666 EPO erythropoietin gene DOID:9003871 Venous Thrombosis ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12670338|PMID:17547733 12139666 EPO erythropoietin gene DOID:9004086 AIDS Dementia Complex treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:20818790|REF_RGD_ID:10395393 12139666 EPO erythropoietin gene DOID:9004303 Tubulointerstitial Fibrosis treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:22678524|REF_RGD_ID:10401065 12139666 EPO erythropoietin gene DOID:9004547 Thyroid Neoplasms ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16699298 12139666 EPO erythropoietin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16699298 12139666 EPO erythropoietin gene DOID:9004702 Pregnancy Complications ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Pregnancy in Diabetes;protein:increased expression:amniotic fluid PMID:15502930|REF_RGD_ID:2313897 12139666 EPO erythropoietin gene DOID:9004713 Acute-Phase Reaction ISO RGD:2559 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:multiple PMID:19840250|REF_RGD_ID:10395370 12139666 EPO erythropoietin gene DOID:9004756 Brain Hypoxia treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:21116766|REF_RGD_ID:10400899 12139666 EPO erythropoietin gene DOID:9004756 Brain Hypoxia treatment ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Brain Injuries PMID:24344874|REF_RGD_ID:10401067 12139666 EPO erythropoietin gene DOID:9005141 Ventricular Tachycardia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18156309 12139666 EPO erythropoietin gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2559 D RGD:9068941 20200609 RGD PMID:12118093|REF_RGD_ID:11041669 12139666 EPO erythropoietin gene DOID:9005372 Inflammation ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21497595 12139666 EPO erythropoietin gene DOID:9005474 Experimental Sarcoma ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9743294 12139666 EPO erythropoietin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2559 D RGD:9068941 20200609 RGD mRNA:increased expression:Schwann cell: PMID:24673486|REF_RGD_ID:11041670 12139666 EPO erythropoietin gene DOID:9005749 Necrosis treatment ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Ischemia PMID:22924373|REF_RGD_ID:8655615 12139666 EPO erythropoietin gene DOID:9005930 Endotoxemia treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:23214195|REF_RGD_ID:10400903 12139666 EPO erythropoietin gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:19961832|PMID:25581532|REF_RGD_ID:10401077|REF_RGD_ID:11041698 12139666 EPO erythropoietin gene DOID:9006617 Fatigue ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18695134 12139666 EPO erythropoietin gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:2559 D RGD:9068941 20200609 RGD PMID:20361946|REF_RGD_ID:10400894 12139666 EPO erythropoietin gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30944280 12139666 EPO erythropoietin gene DOID:9006839 Anastomotic Leak treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:22149012|REF_RGD_ID:10400902 12139666 EPO erythropoietin gene DOID:9006924 Cardiogenic Shock ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19337937 12139666 EPO erythropoietin gene DOID:9007199 Paraneoplastic Syndromes ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10713657 12139666 EPO erythropoietin gene DOID:9007622 Acute Subdural Hematoma treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:23415790|REF_RGD_ID:10401075 12139666 EPO erythropoietin gene DOID:9009142 Diamond-Blackfan Anemia-Like ISO RGD:735849 D RGD:7240710 20190315 OMIM 12139666 EPO erythropoietin gene DOID:9009142 Diamond-Blackfan Anemia-Like ISO RGD:735849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia-like PMID:28283061 12139666 EPO erythropoietin gene DOID:9352 type 2 diabetes mellitus ISO RGD:735849 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:16936148|REF_RGD_ID:2313840 12139666 EPO erythropoietin gene DOID:9352 type 2 diabetes mellitus ISO RGD:735849 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16911620|REF_RGD_ID:2313842 12139666 EPO erythropoietin gene DOID:9477 pulmonary embolism ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12670338 12139666 EPO erythropoietin gene DOID:9743 diabetic neuropathy ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:19244253|REF_RGD_ID:2313834 12139666 EPO erythropoietin gene DOID:9993 hypoglycemia ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma PMID:19211168|REF_RGD_ID:2313835 12139673 XPO1 exportin 1 gene DOID:0060224 atrial fibrillation ISO RGD:735365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12139673 XPO1 exportin 1 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:735365 D RGD:9068941 20220407 RGD protein:increased expression:colorectum (human) PMID:31870117|REF_RGD_ID:151665794 12139673 XPO1 exportin 1 gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:735365 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:28492532 12139673 XPO1 exportin 1 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:735365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:26619011 12139673 XPO1 exportin 1 gene DOID:10534 stomach cancer ameliorates ISO RGD:735365 D RGD:9068941 20220407 RGD protein:increased expression:stomach (human) PMID:31569391|REF_RGD_ID:151665793 12139673 XPO1 exportin 1 gene DOID:10534 stomach cancer exacerbates ISO RGD:735365 D RGD:9068941 20220408 RGD protein:increased expression:stomach (human) PMID:27714846|REF_RGD_ID:151667434 12139673 XPO1 exportin 1 gene DOID:13938 amenorrhea ISO RGD:735365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12139673 XPO1 exportin 1 gene DOID:1793 pancreatic cancer exacerbates ISO RGD:735365 D RGD:9068941 20220407 RGD protein:increased expression:pancreas (human) PMID:20003838|REF_RGD_ID:151665797 12139673 XPO1 exportin 1 gene DOID:1826 epilepsy ISO RGD:735365 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12139673 XPO1 exportin 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:735365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:26619011 12139673 XPO1 exportin 1 gene DOID:363 uterine cancer ISO RGD:735365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26619011 12139673 XPO1 exportin 1 gene DOID:3717 gastric adenocarcinoma ameliorates ISO RGD:735365 D RGD:9068941 20220407 RGD human cell line in a mouse model PMID:30115935|REF_RGD_ID:151665802 12139673 XPO1 exportin 1 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:735365 D RGD:9068941 20220408 RGD protein:decreased expression:stomach (human) PMID:28373767|REF_RGD_ID:151667432 12139673 XPO1 exportin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:735365 D RGD:9068941 20220408 RGD mRNA, protein:increased expression:epithelium of esophagus (human) PMID:24898882|REF_RGD_ID:151667431 12139673 XPO1 exportin 1 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:735365 D RGD:9068941 20220408 RGD protein:increased expression:esophagus (human) PMID:25148895|REF_RGD_ID:151667436 12139673 XPO1 exportin 1 gene DOID:3905 lung carcinoma ameliorates ISO RGD:732925 D RGD:9068941 20220408 RGD human cell line in a mouse model PMID:25629636|REF_RGD_ID:11058563 12139673 XPO1 exportin 1 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:735365 D RGD:9068941 20220407 RGD human cell line in a mouse model PMID:31113936|REF_RGD_ID:151665798 12139673 XPO1 exportin 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:735365 D RGD:9068941 20220408 RGD human cell line in a mouse model PMID:24946002|REF_RGD_ID:151667438 12139673 XPO1 exportin 1 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:735365 D RGD:9068941 20220407 RGD circRNA:increased expression:lung (human) PMID:33268793|REF_RGD_ID:151665799 12139673 XPO1 exportin 1 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:735365 D RGD:9068941 20220407 RGD mRNA:increased expression:lung (human) PMID:23639940|REF_RGD_ID:151665801 12139673 XPO1 exportin 1 gene DOID:4682 extrahepatic bile duct carcinoma disease_progression ISO RGD:735365 D RGD:9068941 20220407 RGD protein:increased expression:extrahepatic bile duct (human) PMID:27279267|REF_RGD_ID:151665800 12139673 XPO1 exportin 1 gene DOID:5419 schizophrenia ISO RGD:735365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12139673 XPO1 exportin 1 gene DOID:5517 stomach carcinoma exacerbates ISO RGD:735365 D RGD:9068941 20220408 RGD protein:increased expression:stomach (human) PMID:24026662|REF_RGD_ID:151667437 12139673 XPO1 exportin 1 gene DOID:630 genetic disease ISO RGD:735365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139673 XPO1 exportin 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:735365 D RGD:9068941 20220407 RGD human cell line in a mouse model PMID:25030088|REF_RGD_ID:151665796 12139673 XPO1 exportin 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:735365 D RGD:9068941 20220408 RGD mRNA:increased expression:liver (human) PMID:31371628|REF_RGD_ID:151667441 12139673 XPO1 exportin 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:620517 D RGD:9068941 20220408 RGD PMID:27013579|REF_RGD_ID:151667433 12139673 XPO1 exportin 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:26619011 12139673 XPO1 exportin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12139673 XPO1 exportin 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:735365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:26619011 12139673 XPO1 exportin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:26619011 12139673 XPO1 exportin 1 gene DOID:9256 colorectal cancer ameliorates ISO RGD:735365 D RGD:9068941 20220408 RGD human cell line in a mouse model PMID:26603256|PMID:33745946|REF_RGD_ID:151665795|REF_RGD_ID:151667439 12139711 RLF RLF zinc finger gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12139711 RLF RLF zinc finger gene DOID:630 genetic disease ISO RGD:1313242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139723 ASF1A anti-silencing function 1A histone chaperone gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1323657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12139723 ASF1A anti-silencing function 1A histone chaperone gene DOID:1059 intellectual disability ISO RGD:1323657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 12139723 ASF1A anti-silencing function 1A histone chaperone gene DOID:10907 microcephaly ISO RGD:1323657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 12139723 ASF1A anti-silencing function 1A histone chaperone gene DOID:12849 autistic disorder ISO RGD:1323657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 12139723 ASF1A anti-silencing function 1A histone chaperone gene DOID:1826 epilepsy ISO RGD:1323657 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12139723 ASF1A anti-silencing function 1A histone chaperone gene DOID:1909 melanoma ISO RGD:1323657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12139723 ASF1A anti-silencing function 1A histone chaperone gene DOID:630 genetic disease ISO RGD:1323657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139723 ASF1A anti-silencing function 1A histone chaperone gene DOID:9000495 Tremor ISO RGD:1323657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12139731 HSPH1 heat shock protein family H (Hsp110) member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1323157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12139731 HSPH1 heat shock protein family H (Hsp110) member 1 gene DOID:630 genetic disease ISO RGD:1323157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139753 LRP6 LDL receptor related protein 6 gene DOID:0050567 orofacial cleft ISO RGD:1312373 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Orofacial cleft PMID:22813217|PMID:23806086|PMID:26963285 12139753 LRP6 LDL receptor related protein 6 gene DOID:0050591 tooth agenesis ISO RGD:1312373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Tooth agenesis PMID:22813217|PMID:23033978|PMID:25741868|PMID:26963285|PMID:28492532 12139753 LRP6 LDL receptor related protein 6 gene DOID:0050770 polycystic liver disease ISO RGD:1312373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:28492532 12139753 LRP6 LDL receptor related protein 6 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1312373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12139753 LRP6 LDL receptor related protein 6 gene DOID:0080074 neural tube defect ISO RGD:1312374 D RGD:9068941 20220825 MouseDO OMIM:182940 | OMIM:301410 | OMIM:601634 12139753 LRP6 LDL receptor related protein 6 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1312373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12139753 LRP6 LDL receptor related protein 6 gene DOID:10126 keratoconus ISO RGD:1312373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 12139753 LRP6 LDL receptor related protein 6 gene DOID:10283 prostate cancer ISO RGD:1312373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12139753 LRP6 LDL receptor related protein 6 gene DOID:3393 coronary artery disease ISO RGD:1312373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease PMID:28492532 12139753 LRP6 LDL receptor related protein 6 gene DOID:630 genetic disease ISO RGD:1312373 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12139753 LRP6 LDL receptor related protein 6 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1312373 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868|PMID:28492532 12139753 LRP6 LDL receptor related protein 6 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1312373 D RGD:9068941 20200609 RGD PMID:12660824|REF_RGD_ID:2298724 12139753 LRP6 LDL receptor related protein 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312374 D RGD:9068941 20200609 RGD PMID:18006602|REF_RGD_ID:4110127 12139753 LRP6 LDL receptor related protein 6 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1312373 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease PMID:28492532 12139753 LRP6 LDL receptor related protein 6 gene DOID:9002374 Coronary Artery Disease, Autosomal Dominant 2 ISO RGD:1312373 D RGD:7240710 20180130 OMIM 12139753 LRP6 LDL receptor related protein 6 gene DOID:9002374 Coronary Artery Disease, Autosomal Dominant 2 ISO RGD:1312373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease, autosomal dominant 2 PMID:17332414|PMID:23703864|PMID:25741868|PMID:28492532 12139753 LRP6 LDL receptor related protein 6 gene DOID:9006646 Metabolic Syndrome ISO RGD:1312373 D RGD:9068941 20200609 RGD DNA:missense mutation:cds PMID:17332414|REF_RGD_ID:2298725 12139753 LRP6 LDL receptor related protein 6 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1312373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24552774 12139753 LRP6 LDL receptor related protein 6 gene DOID:9007661 Dwarfism ISO RGD:1312373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12139753 LRP6 LDL receptor related protein 6 gene DOID:9008283 Selective Tooth Agenesis 7 ISO RGD:1312373 D RGD:7240710 20180130 OMIM 12139753 LRP6 LDL receptor related protein 6 gene DOID:9008283 Selective Tooth Agenesis 7 ISO RGD:1312373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 7 PMID:22813217|PMID:23033978|PMID:25741868|PMID:26387593|PMID:26963285|PMID:28492532|PMID:34306029 12139753 LRP6 LDL receptor related protein 6 gene DOID:9452 fatty liver disease ISO RGD:1312374 D RGD:9068941 20220825 MouseDO OMIM:228100 12139784 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:0060027 agammaglobulinemia 4 ISO RGD:1350073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:28492532 12139784 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:0070131 autosomal dominant cutis laxa 3 ISO RGD:1350073 D RGD:7240710 20180130 OMIM 12139784 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:0070131 autosomal dominant cutis laxa 3 ISO RGD:1350073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 3 PMID:16199547|PMID:17576681|PMID:21739576|PMID:24913064|PMID:25741868|PMID:26026163|PMID:26297558|PMID:26320891|PMID:26829900|PMID:28228640|PMID:28492532|PMID:8779323|PMID:9536098|PMID:9643297 12139784 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:0070132 autosomal recessive cutis laxa type IIIA ISO RGD:1350073 D RGD:7240710 20180130 OMIM 12139784 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:0070132 autosomal recessive cutis laxa type IIIA ISO RGD:1350073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cutis laxa-corneal clouding-oligophrenia syndrome | ClinVar Annotator: match by term: DE BARSY SYNDROME A PMID:11092761|PMID:16199547|PMID:17576681|PMID:18478038|PMID:21739576|PMID:24767728|PMID:24913064|PMID:25077174|PMID:25326637|PMID:25741868|PMID:26026163|PMID:26297558|PMID:26320891|PMID:28492532|PMID:30244529|PMID:36067040|PMID:8779323|PMID:9536098 12139784 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:0070142 autosomal dominant cutis laxa ISO RGD:1350073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12139784 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:0070143 autosomal recessive cutis laxa type III ISO RGD:1350073 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Progeroid syndrome of De Barsy | ClinVar Annotator: match by term: de Barsy syndrome PMID:16199547|PMID:17576681|PMID:21739576|PMID:24913064|PMID:25741868|PMID:26026163|PMID:26297558|PMID:28492532|PMID:8779323|PMID:9536098 12139784 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:1350073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A PMID:25741868|PMID:28492532 12139784 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:0110824 hereditary spastic paraplegia 9A ISO RGD:1350073 D RGD:7240710 20180130 OMIM 12139784 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:0110824 hereditary spastic paraplegia 9A ISO RGD:1350073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A | ClinVar Annotator: match by term: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX PMID:16199547|PMID:17576681|PMID:21739576|PMID:22411858|PMID:24913064|PMID:25741868|PMID:26026163|PMID:26297558|PMID:26320891|PMID:26829900|PMID:28492532|PMID:28567303|PMID:28604674|PMID:29915212|PMID:30244529|PMID:31130284|PMID:31402623|PMID:32342562|PMID:32798076|PMID:33144682|PMID:8779323|PMID:9536098|PMID:9973297 12139784 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:0110825 hereditary spastic paraplegia 9B ISO RGD:1350073 D RGD:7240710 20180130 OMIM 12139784 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:0110825 hereditary spastic paraplegia 9B ISO RGD:1350073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia type 9B | ClinVar Annotator: match by term: Spastic paraplegia 9b, autosomal recessive PMID:25741868|PMID:26026163|PMID:26297558|PMID:28492532|PMID:29915212|PMID:32798076|PMID:36067040 12139784 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:0112281 spondyloepiphyseal dysplasia Stanescu type ISO RGD:1350073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, Stanescu type PMID:25741868|PMID:28492532|PMID:36067040 12139784 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:1059 intellectual disability ISO RGD:1350073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12139784 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:1283 enterocele ISO RGD:1350073 D RGD:9068941 20200609 RGD DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) PMID:26320891|REF_RGD_ID:13434923 12139784 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1350073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 12139784 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:3910 lung adenocarcinoma ISO RGD:1350073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12139784 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:630 genetic disease ISO RGD:1350073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26026163|PMID:26297558|PMID:28492532|PMID:31402623|PMID:36067040|PMID:9973297 12139784 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:83 cataract ISO RGD:1350073 D RGD:9068941 20200609 RGD DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) PMID:26320891|REF_RGD_ID:13434923 12139784 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:9001734 Neurocutaneous Syndromes ISO RGD:1350073 D RGD:9068941 20200609 RGD DNA:missense mutation;exon:2350C>T(p.H784Y)(human) PMID:18478038|REF_RGD_ID:13439711 12139784 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:1350073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, recessive 12139784 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1350073 D RGD:9068941 20200609 RGD DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) PMID:26320891|REF_RGD_ID:13434923 12139784 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:9006205 Animal Disease Models ISO RGD:1350073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12139784 ALDH18A1 aldehyde dehydrogenase 18 family member A1 gene DOID:9006534 Nervous System Malformations ISO RGD:1350073 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25077174|PMID:25326637|PMID:25741868 12139815 TACC2 transforming acidic coiled-coil containing protein 2 gene DOID:2340 craniosynostosis ISO RGD:1349981 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 12139815 TACC2 transforming acidic coiled-coil containing protein 2 gene DOID:630 genetic disease ISO RGD:1349981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139854 FRMD5 FERM domain containing 5 gene DOID:0081275 neurodevelopmental disorder with eye movement abnormalities and ataxia ISO RGD:1605911 D RGD:7240710 20221102 OMIM 12139854 FRMD5 FERM domain containing 5 gene DOID:0081275 neurodevelopmental disorder with eye movement abnormalities and ataxia ISO RGD:1605911 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with eye movement abnormalities and ataxia PMID:25741868|PMID:36206744 12139854 FRMD5 FERM domain containing 5 gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1605911 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 16 PMID:25741868 12139854 FRMD5 FERM domain containing 5 gene DOID:2717 Bloom syndrome ISO RGD:1605911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12139854 FRMD5 FERM domain containing 5 gene DOID:630 genetic disease ISO RGD:1605911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139854 FRMD5 FERM domain containing 5 gene DOID:9256 colorectal cancer ISO RGD:1605911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 12139883 TRMT13 tRNA methyltransferase 13 homolog gene DOID:630 genetic disease ISO RGD:1604003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139883 TRMT13 tRNA methyltransferase 13 homolog gene DOID:9269 maple syrup urine disease ISO RGD:1604003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 12139894 C7H1orf105 chromosome 7 C1orf105 homolog gene DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 ISO RGD:1603371 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 16 PMID:25741868|PMID:25741900|PMID:27694521|PMID:28492532 12139894 C7H1orf105 chromosome 7 C1orf105 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1603371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12139894 C7H1orf105 chromosome 7 C1orf105 homolog gene DOID:630 genetic disease ISO RGD:1603371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12139894 C7H1orf105 chromosome 7 C1orf105 homolog gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1603371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 12139894 C7H1orf105 chromosome 7 C1orf105 homolog gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1603371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12139894 C7H1orf105 chromosome 7 C1orf105 homolog gene DOID:9008086 Developmental Disabilities ISO RGD:1603371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741900 12139894 C7H1orf105 chromosome 7 C1orf105 homolog gene DOID:9008386 Hydrops Fetalis ISO RGD:1603371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 12139894 C7H1orf105 chromosome 7 C1orf105 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12139913 DAD1 defender against cell death 1 gene DOID:630 genetic disease ISO RGD:1350029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139913 DAD1 defender against cell death 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350029 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12139920 SLC25A43 solute carrier family 25 member 43 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12139920 SLC25A43 solute carrier family 25 member 43 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1605262 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 12139920 SLC25A43 solute carrier family 25 member 43 gene DOID:12849 autistic disorder ISO RGD:1605262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12139920 SLC25A43 solute carrier family 25 member 43 gene DOID:630 genetic disease ISO RGD:1605262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139929 STK38 serine/threonine kinase 38 gene DOID:0050553 JMP syndrome ISO RGD:1319806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12139929 STK38 serine/threonine kinase 38 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 12139929 STK38 serine/threonine kinase 38 gene DOID:630 genetic disease ISO RGD:1319806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139955 RAG1 recombination activating 1 gene DOID:0060010 Omenn syndrome ISO RGD:1317876 D RGD:7240710 20180130 OMIM 12139955 RAG1 recombination activating 1 gene DOID:0060010 Omenn syndrome ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:12200379|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17572155|PMID:17890453|PMID:18822103|PMID:19011808|PMID:19178939|PMID:20109747|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:24985406|PMID:25516070|PMID:25741868|PMID:25849362|PMID:25976673|PMID:26457731|PMID:2682973|PMID:27301863|PMID:28083621|PMID:28492532|PMID:28769923|PMID:28783691|PMID:30307608|PMID:30778343|PMID:30858051|PMID:30877075|PMID:33365035|PMID:33628209|PMID:8810255|PMID:9630231 12139955 RAG1 recombination activating 1 gene DOID:0080915 histiocytic sarcoma ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Histiocytic medullary reticulosis PMID:10606976|PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:11971977|PMID:12200379|PMID:14670978|PMID:15908971|PMID:16211094|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17176792|PMID:17572155|PMID:17890453|PMID:18056378|PMID:18822103|PMID:19011808|PMID:19178939|PMID:19830075|PMID:20109747|PMID:20956421|PMID:21131235|PMID:21184155|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24033266|PMID:24122031|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:24985406|PMID:25516070|PMID:25741868|PMID:25849362|PMID:25869295|PMID:25976673|PMID:26186701|PMID:26457731|PMID:26596586|PMID:2682973|PMID:27301863|PMID:27609655|PMID:28083621|PMID:28109013|PMID:28492532|PMID:28769923|PMID:28783691|PMID:29107076|PMID:30046960|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30858051|PMID:30877075|PMID:31031743|PMID:31503426|PMID:31980526|PMID:32447396|PMID:33193364|PMID:33365035|PMID:33628209|PMID:8810255|PMID:9630231 12139955 RAG1 recombination activating 1 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive IAGP D RGD:12801476 20210603 OMIA Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive PMID:24799706|PMID:24973446|PMID:25437445|PMID:31878988|PMID:31722780 12139955 RAG1 recombination activating 1 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1317876 D RGD:7240710 20180130 OMIM 12139955 RAG1 recombination activating 1 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1317876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive PMID:10891452|PMID:11133745|PMID:11313270|PMID:11520796|PMID:16276422|PMID:16960852|PMID:17572155|PMID:18701881|PMID:19178939|PMID:19458910|PMID:19912631|PMID:20956421|PMID:21184155|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24033266|PMID:24122031|PMID:24290284|PMID:24406074|PMID:24418478|PMID:25516070|PMID:25741868|PMID:25869295|PMID:25976673|PMID:26457731|PMID:26476733|PMID:26596586|PMID:27301863|PMID:27609655|PMID:28492532|PMID:28783691|PMID:290284|PMID:29107076|PMID:30290665|PMID:31503426|PMID:32447396|PMID:8810255|PMID:9630231 12139955 RAG1 recombination activating 1 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1317876 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:16276422|PMID:16960852|PMID:17572155|PMID:17890453|PMID:18592361|PMID:18701881|PMID:19178939|PMID:19246248|PMID:19912631|PMID:20956421|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24033266|PMID:24122031|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:25516070|PMID:25741868|PMID:25849362|PMID:25869295|PMID:25976673|PMID:26457731|PMID:26476733|PMID:26596586|PMID:27301863|PMID:27609655|PMID:28083621|PMID:28492532|PMID:28769923|PMID:28783691|PMID:290284|PMID:29107076|PMID:30290665|PMID:30307608|PMID:31503426|PMID:32447396|PMID:8810255|PMID:9630231 12139955 RAG1 recombination activating 1 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1317876 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17572155|PMID:17890453|PMID:18592361|PMID:18701881|PMID:19011808|PMID:19178939|PMID:19246248|PMID:19912631|PMID:20956421|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24033266|PMID:24122031|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:25516070|PMID:25741868|PMID:25849362|PMID:25869295|PMID:25976673|PMID:26457731|PMID:26476733|PMID:26596586|PMID:27301863|PMID:27609655|PMID:28083621|PMID:28492532|PMID:28769923|PMID:28783691|PMID:290284|PMID:29107076|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30877075|PMID:31503426|PMID:32445296|PMID:32447396|PMID:33365035|PMID:33628209|PMID:8810255|PMID:9630231 12139955 RAG1 recombination activating 1 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:12200379|PMID:16211094|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17572155|PMID:17890453|PMID:18592361|PMID:18701881|PMID:18822103|PMID:19011808|PMID:19178939|PMID:19246248|PMID:19458910|PMID:19912631|PMID:20109747|PMID:20956421|PMID:21184155|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24033266|PMID:24122031|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:24985406|PMID:25516070|PMID:25741868|PMID:25849362|PMID:25869295|PMID:25976673|PMID:26457731|PMID:26476733|PMID:26596586|PMID:2682973|PMID:27301863|PMID:27609655|PMID:28083621|PMID:28492532|PMID:28769923|PMID:28783691|PMID:290284|PMID:29107076|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30858051|PMID:30877075|PMID:31503426|PMID:32445296|PMID:32447396|PMID:33365035|PMID:33628209|PMID:8810255|PMID:9630231 12139955 RAG1 recombination activating 1 gene DOID:0112253 combined cellular and humoral immune defects with granulomas ISO RGD:1317876 D RGD:7240710 20180130 OMIM 12139955 RAG1 recombination activating 1 gene DOID:0112253 combined cellular and humoral immune defects with granulomas ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas PMID:10701853|PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:11971977|PMID:12200379|PMID:14670978|PMID:15696198|PMID:15908971|PMID:16211094|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17476359|PMID:17572155|PMID:17890453|PMID:18056378|PMID:18442948|PMID:18463379|PMID:18592361|PMID:18701881|PMID:18768869|PMID:18822103|PMID:19011808|PMID:19064334|PMID:19178939|PMID:19246248|PMID:19458910|PMID:19830075|PMID:19912631|PMID:20109747|PMID:20489056|PMID:20956421|PMID:21131235|PMID:21184155|PMID:21502542|PMID:21624848|PMID:21625022|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:23891352|PMID:24033266|PMID:24122031|PMID:24144642|PMID:24290284|PMID:24331380|PMID:24406074|PMID:24418478|PMID:24472623|PMID:24817258|PMID:24985406|PMID:25104208|PMID:25516070|PMID:25707801|PMID:25739914|PMID:25741868|PMID:25849362|PMID:25869295|PMID:25976673|PMID:26186701|PMID:26457731|PMID:26476733|PMID:26596586|PMID:2682973|PMID:26829731|PMID:27301863|PMID:27484032|PMID:27609655|PMID:27713031|PMID:2808362|PMID:28083621|PMID:28109013|PMID:28216420|PMID:28492532|PMID:28623282|PMID:28747913|PMID:28769923|PMID:28783691|PMID:28864286|PMID:290284|PMID:29104089|PMID:29107076|PMID:30046960|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30858051|PMID:30877075|PMID:31031743|PMID:31130284|PMID:31313695|PMID:31503426|PMID:31980526|PMID:32445296|PMID:32447396|PMID:32655540|PMID:32670274|PMID:32888943|PMID:33117328|PMID:33193364|PMID:33365035|PMID:33628209|PMID:33954879|PMID:8810255|PMID:9630231 12139955 RAG1 recombination activating 1 gene DOID:1059 intellectual disability ISO RGD:1317876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12139955 RAG1 recombination activating 1 gene DOID:10763 hypertension ISO RGD:619790 D RGD:9068941 20200609 RGD PMID:23364523|REF_RGD_ID:7207429 12139955 RAG1 recombination activating 1 gene DOID:10907 microcephaly ISO RGD:1317876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12139955 RAG1 recombination activating 1 gene DOID:5810 adenosine deaminase deficiency ISO RGD:1317876 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bubble boy disease PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:17572155|PMID:17890453|PMID:19178939|PMID:21664875|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24290284|PMID:24406074|PMID:24418478|PMID:25516070|PMID:25741868|PMID:26457731|PMID:26476733|PMID:26596586|PMID:27301863|PMID:28492532|PMID:28769923|PMID:28783691|PMID:30290665|PMID:9630231 12139955 RAG1 recombination activating 1 gene DOID:5810 adenosine deaminase deficiency ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:16276422|PMID:17075247|PMID:17572155|PMID:17890453|PMID:18822103|PMID:19178939|PMID:21664875|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:25516070|PMID:25741868|PMID:26457731|PMID:26476733|PMID:26596586|PMID:27301863|PMID:28492532|PMID:28769923|PMID:28783691|PMID:30290665|PMID:30778343|PMID:30877075|PMID:33365035|PMID:33628209|PMID:8810255|PMID:9630231 12139955 RAG1 recombination activating 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:17572155|PMID:25741868|PMID:28109013|PMID:28492532|PMID:30290665|PMID:30858051|PMID:9630231 12139955 RAG1 recombination activating 1 gene DOID:627 severe combined immunodeficiency ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:11971977|PMID:16276422|PMID:17075247|PMID:17476359|PMID:17572155|PMID:17890453|PMID:18463379|PMID:18768869|PMID:18822103|PMID:19178939|PMID:20956421|PMID:21664875|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:25516070|PMID:25741868|PMID:25869295|PMID:26186701|PMID:26457731|PMID:26476733|PMID:26596586|PMID:27301863|PMID:27484032|PMID:28492532|PMID:28769923|PMID:28783691|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30877075|PMID:31980526|PMID:32445296|PMID:33193364|PMID:33365035|PMID:33628209|PMID:8810255|PMID:9630231 12139955 RAG1 recombination activating 1 gene DOID:630 genetic disease ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12139955 RAG1 recombination activating 1 gene DOID:9000795 Immunodeficiency 104 ISO RGD:1317876 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Immunodeficiency 104 PMID:24033266|PMID:25741868|PMID:28492532 12139955 RAG1 recombination activating 1 gene DOID:9001542 Albuminuria ISO RGD:619790 D RGD:9068941 20201211 RGD PMID:23364523|REF_RGD_ID:7207429 12139955 RAG1 recombination activating 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1317876 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12139955 RAG1 recombination activating 1 gene DOID:9003234 Hypertensive Nephropathy ISO RGD:619790 D RGD:9068941 20200609 RGD PMID:23364523|REF_RGD_ID:7207429 12139955 RAG1 recombination activating 1 gene DOID:9003234 Hypertensive Nephropathy ameliorates ISO RGD:619790 D RGD:9068941 20210212 RGD PMID:23364523|REF_RGD_ID:7207429 12139955 RAG1 recombination activating 1 gene DOID:9004654 Immune Deficiency Disease ISO RGD:619790 D RGD:9068941 20200609 RGD PMID:29688994|REF_RGD_ID:13628403 12139955 RAG1 recombination activating 1 gene DOID:9005774 Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity ISO RGD:1317876 D RGD:7240710 20180130 OMIM 12139955 RAG1 recombination activating 1 gene DOID:9005774 Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:12200379|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17572155|PMID:17890453|PMID:18592361|PMID:18822103|PMID:19011808|PMID:19178939|PMID:19246248|PMID:20109747|PMID:21664875|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:24985406|PMID:25516070|PMID:25741868|PMID:25849362|PMID:25976673|PMID:26457731|PMID:26476733|PMID:26596586|PMID:2682973|PMID:27301863|PMID:28083621|PMID:28492532|PMID:28769923|PMID:28783691|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30858051|PMID:30877075|PMID:33365035|PMID:33628209|PMID:8810255|PMID:9630231 12139955 RAG1 recombination activating 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 12139958 LARGE2 LARGE xylosyl- and glucuronyltransferase 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1605885 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 12139958 LARGE2 LARGE xylosyl- and glucuronyltransferase 2 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1605885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12139958 LARGE2 LARGE xylosyl- and glucuronyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1605885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12139958 LARGE2 LARGE xylosyl- and glucuronyltransferase 2 gene DOID:630 genetic disease ISO RGD:1605885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139958 LARGE2 LARGE xylosyl- and glucuronyltransferase 2 gene DOID:905 Zellweger syndrome ISO RGD:1605885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 12139979 SEMA3B semaphorin 3B gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12139979 SEMA3B semaphorin 3B gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12139979 SEMA3B semaphorin 3B gene DOID:630 genetic disease ISO RGD:1320778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12139979 SEMA3B semaphorin 3B gene DOID:769 neuroblastoma ISO RGD:1320778 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17452250 12139979 SEMA3B semaphorin 3B gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1320778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12139979 SEMA3B semaphorin 3B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12139979 SEMA3B semaphorin 3B gene DOID:9007715 Endometrial Neoplasms ISO RGD:1320778 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21933904 12139979 SEMA3B semaphorin 3B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12140002 CREB3L3 cAMP responsive element binding protein 3 like 3 gene DOID:13938 amenorrhea ISO RGD:1317760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12140002 CREB3L3 cAMP responsive element binding protein 3 like 3 gene DOID:630 genetic disease ISO RGD:1317760 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21666694|PMID:28106320|PMID:28492532 12140002 CREB3L3 cAMP responsive element binding protein 3 like 3 gene DOID:9000810 HYPERTRIGLYCERIDEMIA 1 ISO RGD:1317760 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia, familial PMID:21666694|PMID:25741868|PMID:28492532|PMID:31619059|PMID:32041611 12140002 CREB3L3 cAMP responsive element binding protein 3 like 3 gene DOID:9003618 HYPERTRIGLYCERIDEMIA 2 ISO RGD:1317760 D RGD:7240710 20210818 OMIM 12140002 CREB3L3 cAMP responsive element binding protein 3 like 3 gene DOID:9003618 HYPERTRIGLYCERIDEMIA 2 ISO RGD:1317760 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: HYPERTRIGLYCERIDEMIA 2 PMID:21666694|PMID:25741868|PMID:26427795|PMID:28492532 12140017 PARD6B par-6 family cell polarity regulator beta gene DOID:0060041 autism spectrum disorder ISO RGD:1317848 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12140017 PARD6B par-6 family cell polarity regulator beta gene DOID:630 genetic disease ISO RGD:1317848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140023 PRKAB1 protein kinase AMP-activated non-catalytic subunit beta 1 gene DOID:2983 anuria treatment ISO RGD:735403 D RGD:9068941 20201001 RGD PMID:27782167|REF_RGD_ID:39128183 12140023 PRKAB1 protein kinase AMP-activated non-catalytic subunit beta 1 gene DOID:630 genetic disease ISO RGD:735402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140023 PRKAB1 protein kinase AMP-activated non-catalytic subunit beta 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12140023 PRKAB1 protein kinase AMP-activated non-catalytic subunit beta 1 gene DOID:9000918 Disease Progression ISO RGD:735402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12140035 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:1352340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mental retardation, unusual facies, and intrauterine growth retardation | ClinVar Annotator: match by term: Wolf syndrome | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome PMID:25741868|PMID:28492532 12140035 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:1059 intellectual disability ISO RGD:1352340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14706454 12140035 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:1856 cherubism ISO RGD:1352340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12140035 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:3070 high grade glioma ISO RGD:1352340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12140035 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1352340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12140035 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1352340 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23392203 12140035 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:9001308 Wittwer Syndrome ISO RGD:1352340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wittwer syndrome PMID:25741868|PMID:28492532 12140035 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1352340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14706454 12140035 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:9007578 LETM1-ASSOCIATED CLINICAL SPECTRUM WITH PREDOMINANT NERVOUS SYSTEM INVOLVEMENT ISO RGD:1352340 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: LETM1-associated clinical spectrum with predominant nervous system involvement PMID:25741868|PMID:36055214 12140035 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:9007987 NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION ISO RGD:1352340 D RGD:7240710 20221214 OMIM 12140035 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:9007987 NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION ISO RGD:1352340 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction PMID:25741868|PMID:36055214 12140035 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1352340 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:36055214 12140035 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1352340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14706454 12140053 THYN1 thymocyte nuclear protein 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12140053 THYN1 thymocyte nuclear protein 1 gene DOID:5419 schizophrenia ISO RGD:1606014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12140053 THYN1 thymocyte nuclear protein 1 gene DOID:630 genetic disease ISO RGD:1606014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140053 THYN1 thymocyte nuclear protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12140053 THYN1 thymocyte nuclear protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12140053 THYN1 thymocyte nuclear protein 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12140053 THYN1 thymocyte nuclear protein 1 gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1606014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:16857760|PMID:21109224|PMID:23255084|PMID:28492532 12140065 SCO1 synthesis of cytochrome C oxidase 1 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:1344696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 12140065 SCO1 synthesis of cytochrome C oxidase 1 gene DOID:114 heart disease ISO RGD:1344696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23345593 12140065 SCO1 synthesis of cytochrome C oxidase 1 gene DOID:3652 Leigh disease ISO RGD:1344696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12140065 SCO1 synthesis of cytochrome C oxidase 1 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1344696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12140065 SCO1 synthesis of cytochrome C oxidase 1 gene DOID:409 liver disease ISO RGD:1344696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23345593 12140065 SCO1 synthesis of cytochrome C oxidase 1 gene DOID:630 genetic disease ISO RGD:1344696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12140065 SCO1 synthesis of cytochrome C oxidase 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:1344696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17182746 12140065 SCO1 synthesis of cytochrome C oxidase 1 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1344696 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:28492532 12140065 SCO1 synthesis of cytochrome C oxidase 1 gene DOID:9000822 Mitochondrial Complex IV Deficiency, Nuclear Type 4 ISO RGD:1344696 D RGD:7240710 20201111 OMIM 12140065 SCO1 synthesis of cytochrome C oxidase 1 gene DOID:9000822 Mitochondrial Complex IV Deficiency, Nuclear Type 4 ISO RGD:1344696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4 PMID:11013136|PMID:11118289|PMID:16520371|PMID:17182746|PMID:19295170|PMID:23345593|PMID:23878101|PMID:24403053|PMID:25741868|PMID:28492532|PMID:29381136 12140065 SCO1 synthesis of cytochrome C oxidase 1 gene DOID:9004590 Acute Liver Failure ISO RGD:1344696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864674 12140065 SCO1 synthesis of cytochrome C oxidase 1 gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:1344696 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:25741868|PMID:28492532 12140065 SCO1 synthesis of cytochrome C oxidase 1 gene DOID:936 brain disease ISO RGD:1344696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23345593 12140074 KRT38 keratin 38 gene DOID:630 genetic disease ISO RGD:1350539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140085 DGKE diacylglycerol kinase epsilon gene DOID:0050777 Joubert syndrome ISO RGD:1347499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12140085 DGKE diacylglycerol kinase epsilon gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1347499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7 PMID:23274426|PMID:23542698|PMID:24511134|PMID:24747643|PMID:25135762|PMID:25741868|PMID:25854283|PMID:28492532|PMID:28496993|PMID:29590070 12140085 DGKE diacylglycerol kinase epsilon gene DOID:0080388 nephrotic syndrome type 7 ISO RGD:1347499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunoglobulin-mediated membranoproliferative glomerulonephritis | ClinVar Annotator: match by term: Nephrotic syndrome, type 7 PMID:23274426|PMID:23542698|PMID:24747643|PMID:25135762|PMID:25349199|PMID:25741868|PMID:25854283|PMID:28056875|PMID:28492532|PMID:28496993|PMID:29127259|PMID:29590070 12140085 DGKE diacylglycerol kinase epsilon gene DOID:0080388 nephrotic syndrome type 7 susceptibility ISO RGD:1347499 D RGD:7240710 20230517 OMIM 12140085 DGKE diacylglycerol kinase epsilon gene DOID:1184 nephrotic syndrome ISO RGD:1347499 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:23274426|PMID:25349199|PMID:25741868|PMID:29127259 12140085 DGKE diacylglycerol kinase epsilon gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1347499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemolytic-uremic syndrome PMID:25854283 12140085 DGKE diacylglycerol kinase epsilon gene DOID:557 kidney disease ISO RGD:1347499 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 12140085 DGKE diacylglycerol kinase epsilon gene DOID:630 genetic disease ISO RGD:1347499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12140101 CCT6B chaperonin containing TCP1 subunit 6B gene DOID:630 genetic disease ISO RGD:1345746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140101 CCT6B chaperonin containing TCP1 subunit 6B gene DOID:8584 Burkitt lymphoma ISO RGD:1345746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 12140101 CCT6B chaperonin containing TCP1 subunit 6B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12140125 KCND2 potassium voltage-gated channel subfamily D member 2 gene DOID:308 early myoclonic encephalopathy ISO RGD:68574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy PMID:17576681|PMID:19171772|PMID:24501278|PMID:28166811|PMID:28492532|PMID:29581270|PMID:9536098 12140125 KCND2 potassium voltage-gated channel subfamily D member 2 gene DOID:308 early myoclonic encephalopathy ISO RGD:68574 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy PMID:17576681|PMID:19171772|PMID:24501278|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29581270|PMID:9536098 12140125 KCND2 potassium voltage-gated channel subfamily D member 2 gene DOID:308 early myoclonic encephalopathy ISO RGD:68574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:16199547|PMID:17576681|PMID:19171772|PMID:24501278|PMID:25214526|PMID:25640679|PMID:25741868|PMID:28492532|PMID:29581270|PMID:30571183|PMID:9536098 12140125 KCND2 potassium voltage-gated channel subfamily D member 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:68574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12140125 KCND2 potassium voltage-gated channel subfamily D member 2 gene DOID:4947 cholangiocarcinoma ISO RGD:68574 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34418280 12140125 KCND2 potassium voltage-gated channel subfamily D member 2 gene DOID:630 genetic disease ISO RGD:68574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12140125 KCND2 potassium voltage-gated channel subfamily D member 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:68574 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34418280 12140125 KCND2 potassium voltage-gated channel subfamily D member 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:68574 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34418280 12140135 ZNF511 zinc finger protein 511 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1318442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12140135 ZNF511 zinc finger protein 511 gene DOID:630 genetic disease ISO RGD:1318442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140144 PDE8A phosphodiesterase 8A gene DOID:2717 Bloom syndrome ISO RGD:733249 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12140144 PDE8A phosphodiesterase 8A gene DOID:630 genetic disease ISO RGD:733249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140144 PDE8A phosphodiesterase 8A gene DOID:9002189 High Myopia ISO RGD:733249 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: High myopia 12140144 PDE8A phosphodiesterase 8A gene DOID:9002276 Uridine-Cytidineuria ISO RGD:733249 D RGD:7240710 20220921 OMIM 12140144 PDE8A phosphodiesterase 8A gene DOID:9002276 Uridine-Cytidineuria ISO RGD:733249 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Uridine-cytidineuria PMID:14978229|PMID:21998139|PMID:30847922 12140144 PDE8A phosphodiesterase 8A gene DOID:9008939 Breast Neoplasms ISO RGD:733249 D RGD:9068941 20220922 CTD CTD Direct Evidence: marker/mechanism PMID:16837820 12140144 PDE8A phosphodiesterase 8A gene DOID:9256 colorectal cancer ISO RGD:733249 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12140184 IFITM10 interferon induced transmembrane protein 10 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:5132175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12140184 IFITM10 interferon induced transmembrane protein 10 gene DOID:0080773 delta beta-thalassemia ISO RGD:5132175 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12140184 IFITM10 interferon induced transmembrane protein 10 gene DOID:0111969 immunodeficiency 39 ISO RGD:5132175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12140184 IFITM10 interferon induced transmembrane protein 10 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:5132175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12140184 IFITM10 interferon induced transmembrane protein 10 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:5132175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12140184 IFITM10 interferon induced transmembrane protein 10 gene DOID:630 genetic disease ISO RGD:5132175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140184 IFITM10 interferon induced transmembrane protein 10 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:5132175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12140191 TM4SF4 transmembrane 4 L six family member 4 gene DOID:0050579 glycogen storage disease XV ISO RGD:731779 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12140191 TM4SF4 transmembrane 4 L six family member 4 gene DOID:409 liver disease ISO RGD:731779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17069928 12140191 TM4SF4 transmembrane 4 L six family member 4 gene DOID:630 genetic disease ISO RGD:731779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140200 DDI1 DNA damage inducible 1 homolog 1 gene DOID:1059 intellectual disability ISO RGD:1604424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12140200 DDI1 DNA damage inducible 1 homolog 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1604424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12140200 DDI1 DNA damage inducible 1 homolog 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1604424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12140200 DDI1 DNA damage inducible 1 homolog 1 gene DOID:630 genetic disease ISO RGD:1604424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140205 LOC612036 solute carrier family 22 member 20-like gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12140205 LOC612036 solute carrier family 22 member 20-like gene DOID:1059 intellectual disability ISO RGD:1606386 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: Intellectual disability 12140205 LOC612036 solute carrier family 22 member 20-like gene DOID:630 genetic disease ISO RGD:1606386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140215 SGCD sarcoglycan delta gene DOID:0050700 cardiomyopathy ISO RGD:1315366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:24503780|PMID:25741868|PMID:26084686|PMID:26467025|PMID:28492532 12140215 SGCD sarcoglycan delta gene DOID:0050700 cardiomyopathy severity ISO RGD:1315367 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.Ser151Ala(mouse) PMID:23695275|REF_RGD_ID:13605617 12140215 SGCD sarcoglycan delta gene DOID:0050700 cardiomyopathy severity ISO RGD:1315367 D RGD:9068941 20200609 RGD associated with limb-girdle muscular dystrophy PMID:10481911|REF_RGD_ID:13605616 12140215 SGCD sarcoglycan delta gene DOID:0050700 cardiomyopathy treatment ISO RGD:1315367 D RGD:9068941 20200609 RGD associated with Sgcd knockout PMID:19218289|REF_RGD_ID:13605618 12140215 SGCD sarcoglycan delta gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1315366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 12140215 SGCD sarcoglycan delta gene DOID:0080600 COVID-19 ISO RGD:1315366 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12140215 SGCD sarcoglycan delta gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1315366 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:10974018|PMID:12794684|PMID:18414213|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26720722|PMID:26968544|PMID:28401079|PMID:28492532 12140215 SGCD sarcoglycan delta gene DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F IAGP D RGD:12801476 20210603 OMIA Muscular dystrophy, limb-girdle, type R6 (LGMDR6) PMID:15474686|PMID:18371037|PMID:28702169 12140215 SGCD sarcoglycan delta gene DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F ISO RGD:1315366 D RGD:7240710 20180130 OMIM 12140215 SGCD sarcoglycan delta gene DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F ISO RGD:1315366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2F | ClinVar Annotator: match by term: Delta-sarcoglycanopathy | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC PMID:10735275|PMID:10838250|PMID:10974018|PMID:12794684|PMID:14564412|PMID:16199547|PMID:16432241|PMID:16524571|PMID:17164264|PMID:17576681|PMID:17994539|PMID:18285821|PMID:18414213|PMID:19259135|PMID:19770540|PMID:19771157|PMID:20623375|PMID:22095924|PMID:22337857|PMID:23695275|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25637381|PMID:25640679|PMID:25741868|PMID:26077850|PMID:26084686|PMID:26467025|PMID:26498160|PMID:26633542|PMID:26720722|PMID:26968544|PMID:27532257|PMID:28401079|PMID:28412737|PMID:28492532|PMID:28687063|PMID:28855170|PMID:31019283|PMID:31983221|PMID:32875335|PMID:8841194|PMID:9536098|PMID:9832045 12140215 SGCD sarcoglycan delta gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1315366 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 PMID:23861362|PMID:24033266|PMID:25741868|PMID:26720722|PMID:28492532 12140215 SGCD sarcoglycan delta gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1315366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:24033266|PMID:25637381|PMID:25741868 12140215 SGCD sarcoglycan delta gene DOID:0110436 dilated cardiomyopathy 1L ISO RGD:1315366 D RGD:7240710 20180130 OMIM 12140215 SGCD sarcoglycan delta gene DOID:0110436 dilated cardiomyopathy 1L ISO RGD:1315366 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1L PMID:10735275|PMID:10838250|PMID:10974018|PMID:14564412|PMID:16199547|PMID:16432241|PMID:16524571|PMID:17164264|PMID:18285821|PMID:19259135|PMID:19770540|PMID:19771157|PMID:20623375|PMID:22095924|PMID:22337857|PMID:23695275|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26720722|PMID:27532257|PMID:28412737|PMID:28492532|PMID:31019283|PMID:31983221|PMID:8841194 12140215 SGCD sarcoglycan delta gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1315366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:28492532 12140215 SGCD sarcoglycan delta gene DOID:10908 hydrocephalus ISO RGD:1315366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 12140215 SGCD sarcoglycan delta gene DOID:11724 limb-girdle muscular dystrophy severity ISO RGD:1315367 D RGD:9068941 20200609 RGD PMID:10481911|REF_RGD_ID:13605616 12140215 SGCD sarcoglycan delta gene DOID:12930 dilated cardiomyopathy ISO RGD:1315366 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:24033266|PMID:25637381|PMID:25741868|PMID:26720722|PMID:28492532 12140215 SGCD sarcoglycan delta gene DOID:440 neuromuscular disease ISO RGD:1315366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:10735275|PMID:10838250|PMID:24033266|PMID:24503780|PMID:27532257|PMID:28492532|PMID:8841194 12140215 SGCD sarcoglycan delta gene DOID:630 genetic disease ISO RGD:1315366 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:28492532 12140215 SGCD sarcoglycan delta gene DOID:9884 muscular dystrophy ISO RGD:1315366 D RGD:9068941 20200609 RGD Limb-girdle muscular dystrophies (LGMD), OMIM:601411 PMID:8841194|REF_RGD_ID:1599341 12140235 EPHA5 EPH receptor A5 gene DOID:3070 high grade glioma ISO RGD:1605127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:25741868 12140235 EPHA5 EPH receptor A5 gene DOID:3910 lung adenocarcinoma ISO RGD:1605127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:16140923 12140235 EPHA5 EPH receptor A5 gene DOID:630 genetic disease ISO RGD:1605127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140235 EPHA5 EPH receptor A5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12140265 HIVEP3 HIVEP zinc finger 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12140265 HIVEP3 HIVEP zinc finger 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12140282 OR9K2 olfactory receptor family 9 subfamily K member 2 gene DOID:630 genetic disease ISO RGD:1345121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140289 SKA2 spindle and kinetochore associated complex subunit 2 gene DOID:0050436 mulibrey nanism ISO RGD:1316064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mulibrey nanism syndrome PMID:21681106 12140289 SKA2 spindle and kinetochore associated complex subunit 2 gene DOID:0050777 Joubert syndrome ISO RGD:1316064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12140289 SKA2 spindle and kinetochore associated complex subunit 2 gene DOID:630 genetic disease ISO RGD:1316064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140297 CA5B carbonic anhydrase 5B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12140297 CA5B carbonic anhydrase 5B gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1343079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 12140297 CA5B carbonic anhydrase 5B gene DOID:12849 autistic disorder ISO RGD:1343079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12140297 CA5B carbonic anhydrase 5B gene DOID:13636 Fanconi anemia ISO RGD:1343079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 12140297 CA5B carbonic anhydrase 5B gene DOID:630 genetic disease ISO RGD:1343079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140297 CA5B carbonic anhydrase 5B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12140337 BEND7 BEN domain containing 7 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1314203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12140337 BEND7 BEN domain containing 7 gene DOID:630 genetic disease ISO RGD:1314203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140383 VAMP4 vesicle associated membrane protein 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1320258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12140383 VAMP4 vesicle associated membrane protein 4 gene DOID:630 genetic disease ISO RGD:1320258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140383 VAMP4 vesicle associated membrane protein 4 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1320258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 12140383 VAMP4 vesicle associated membrane protein 4 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1320258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12140383 VAMP4 vesicle associated membrane protein 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12140403 LOC106560171 transmembrane O-methyltransferase gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1602965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 12140403 LOC106560171 transmembrane O-methyltransferase gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1602965 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12140403 LOC106560171 transmembrane O-methyltransferase gene DOID:0110515 autosomal recessive nonsyndromic deafness 63 ISO RGD:1602965 D RGD:7240710 20180130 OMIM 12140403 LOC106560171 transmembrane O-methyltransferase gene DOID:0110515 autosomal recessive nonsyndromic deafness 63 ISO RGD:1602965 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 63 PMID:17211611|PMID:18794526|PMID:18953341|PMID:21739586|PMID:22908982|PMID:23053991|PMID:24033266|PMID:25741868|PMID:25788562|PMID:26467025|PMID:28492532|PMID:32747562 12140403 LOC106560171 transmembrane O-methyltransferase gene DOID:1059 intellectual disability ISO RGD:1602965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12140403 LOC106560171 transmembrane O-methyltransferase gene DOID:630 genetic disease ISO RGD:1602965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12140403 LOC106560171 transmembrane O-methyltransferase gene DOID:9004538 Hearing Loss ISO RGD:1602965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:25741868|PMID:26467025|PMID:27260575|PMID:28492532|PMID:30311386 12140415 NOX5 NADPH oxidase 5 gene DOID:2717 Bloom syndrome ISO RGD:1353478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12140415 NOX5 NADPH oxidase 5 gene DOID:630 genetic disease ISO RGD:1353478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140415 NOX5 NADPH oxidase 5 gene DOID:9256 colorectal cancer ISO RGD:1353478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12140454 PORCN porcupine O-acyltransferase gene DOID:0060292 X-linked chondrodysplasia punctata 1 ISO RGD:733162 D RGD:9068941 20220825 MouseDO OMIM:302950 | OMIM:302960 12140454 PORCN porcupine O-acyltransferase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12140454 PORCN porcupine O-acyltransferase gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1345811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12140454 PORCN porcupine O-acyltransferase gene DOID:0080352 X-linked chondrodysplasia punctata 2 ISO RGD:1345811 D RGD:7240710 20211006 OMIM 12140454 PORCN porcupine O-acyltransferase gene DOID:0080352 X-linked chondrodysplasia punctata 2 ISO RGD:1345811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant | ClinVar Annotator: match by term: Chondrodysplasia punctata 2, X-linked dominant, atypical PMID:10391218|PMID:10391219|PMID:10710233|PMID:10942423|PMID:11038443|PMID:11493318|PMID:11982764|PMID:12483303|PMID:12503102|PMID:12509714|PMID:1355069|PMID:15368506|PMID:17625999|PMID:18414213|PMID:20949533|PMID:22121851|PMID:22229330|PMID:24726177|PMID:24915996|PMID:25741868|PMID:26075358|PMID:28492532|PMID:29851033|PMID:30098249|PMID:7677157 12140454 PORCN porcupine O-acyltransferase gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1345811 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12140454 PORCN porcupine O-acyltransferase gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1345811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12140454 PORCN porcupine O-acyltransferase gene DOID:0111865 MEND syndrome ISO RGD:1345811 D RGD:7240710 20211006 OMIM 12140454 PORCN porcupine O-acyltransferase gene DOID:0111865 MEND syndrome ISO RGD:1345811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MEND syndrome PMID:11038443|PMID:12503101|PMID:12966533|PMID:18414213|PMID:20949533|PMID:23307567|PMID:24459067|PMID:24700572|PMID:25741868|PMID:28492532 12140454 PORCN porcupine O-acyltransferase gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1345811 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12140454 PORCN porcupine O-acyltransferase gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1345811 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12140454 PORCN porcupine O-acyltransferase gene DOID:12849 autistic disorder ISO RGD:1345811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12140454 PORCN porcupine O-acyltransferase gene DOID:2581 chondrodysplasia punctata ISO RGD:1345811 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:18176751 12140454 PORCN porcupine O-acyltransferase gene DOID:2581 chondrodysplasia punctata ISO RGD:1345811 D RGD:9068941 20211008 RGD CDPX2, OMIM:302960;DNA:point mutation:exon:W29X, R63X PMID:10391218|REF_RGD_ID:734908 12140454 PORCN porcupine O-acyltransferase gene DOID:2581 chondrodysplasia punctata ISO RGD:733162 D RGD:9068941 20211008 RGD PMID:10391218|REF_RGD_ID:734908 12140454 PORCN porcupine O-acyltransferase gene DOID:630 genetic disease ISO RGD:1345811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12509714|PMID:25741868|PMID:28492532 12140454 PORCN porcupine O-acyltransferase gene DOID:65 connective tissue disease ISO RGD:1345811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:10391219|PMID:11038443|PMID:12503102|PMID:12509714|PMID:18414213|PMID:25741868|PMID:28492532 12140454 PORCN porcupine O-acyltransferase gene DOID:9008582 Developmental Disease ISO RGD:1345811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12140474 TRIM14 tripartite motif containing 14 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1323013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 12140474 TRIM14 tripartite motif containing 14 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1323013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 12140474 TRIM14 tripartite motif containing 14 gene DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type ISO RGD:1323013 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type PMID:15726110|PMID:25741868|PMID:27213289|PMID:28492532|PMID:34163424 12140474 TRIM14 tripartite motif containing 14 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1323013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 12140474 TRIM14 tripartite motif containing 14 gene DOID:1059 intellectual disability ISO RGD:1323013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12140474 TRIM14 tripartite motif containing 14 gene DOID:12712 nephronophthisis ISO RGD:1323013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 12140474 TRIM14 tripartite motif containing 14 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1323013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 12140474 TRIM14 tripartite motif containing 14 gene DOID:630 genetic disease ISO RGD:1323013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12140474 TRIM14 tripartite motif containing 14 gene DOID:9001793 Generalized Epilepsy ISO RGD:1323013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 12140485 ZNF354A zinc finger protein 354A gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1353304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12140485 ZNF354A zinc finger protein 354A gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1353304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12140485 ZNF354A zinc finger protein 354A gene DOID:0112103 Sotos syndrome 1 ISO RGD:1353304 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12140485 ZNF354A zinc finger protein 354A gene DOID:4440 seminoma ISO RGD:1353304 D RGD:9068941 20200609 RGD mRNA:increased expression:testis PMID:9788609|REF_RGD_ID:2291889 12140485 ZNF354A zinc finger protein 354A gene DOID:630 genetic disease ISO RGD:1353304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140485 ZNF354A zinc finger protein 354A gene DOID:8719 in situ carcinoma ISO RGD:1353304 D RGD:9068941 20200609 RGD mRNA:increased expression:testis PMID:9788609|REF_RGD_ID:2291889 12140485 ZNF354A zinc finger protein 354A gene DOID:9004009 Reperfusion Injury ISO RGD:2967 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:8382778|REF_RGD_ID:1300202 12140498 DCAF7 DDB1 and CUL4 associated factor 7 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1604053 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24056718 12140498 DCAF7 DDB1 and CUL4 associated factor 7 gene DOID:630 genetic disease ISO RGD:1604053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140498 DCAF7 DDB1 and CUL4 associated factor 7 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1604053 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 12140526 PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B gene DOID:0060858 hypotonia-cystinuria syndrome ISO RGD:733846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 12140526 PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B gene DOID:3883 Lynch syndrome ISO RGD:733846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12140526 PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B gene DOID:630 genetic disease ISO RGD:733846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140526 PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B gene DOID:9007102 Myocardial Ischemia ISO RGD:733846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12140548 SNX14 sorting nexin 14 gene DOID:0050753 cerebellar ataxia ISO RGD:1322101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 12140548 SNX14 sorting nexin 14 gene DOID:0080066 autosomal recessive spinocerebellar ataxia 20 IAGP D RGD:12801476 20210603 OMIA Cerebellar cortical degeneration, SNX14-related PMID:27566131 12140548 SNX14 sorting nexin 14 gene DOID:0080066 autosomal recessive spinocerebellar ataxia 20 ISO RGD:1322101 D RGD:7240710 20180130 OMIM 12140548 SNX14 sorting nexin 14 gene DOID:0080066 autosomal recessive spinocerebellar ataxia 20 ISO RGD:1322101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 20 PMID:24501761|PMID:25439728|PMID:25741868|PMID:25848753|PMID:27913285|PMID:28492532 12140548 SNX14 sorting nexin 14 gene DOID:1059 intellectual disability ISO RGD:1322101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25848753 12140548 SNX14 sorting nexin 14 gene DOID:1826 epilepsy ISO RGD:1322101 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:32581362 12140548 SNX14 sorting nexin 14 gene DOID:630 genetic disease ISO RGD:1322101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12140548 SNX14 sorting nexin 14 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1322101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12140548 SNX14 sorting nexin 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532 12140588 C12H6orf163 chromosome 12 C6orf163 homolog gene DOID:630 genetic disease ISO RGD:1604202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140597 CD164 CD164 molecule gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:736961 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 12140597 CD164 CD164 molecule gene DOID:0110587 autosomal dominant nonsyndromic deafness 66 ISO RGD:736961 D RGD:7240710 20190315 OMIM 12140597 CD164 CD164 molecule gene DOID:0110587 autosomal dominant nonsyndromic deafness 66 ISO RGD:736961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 66 PMID:26197441 12140597 CD164 CD164 molecule gene DOID:1324 lung cancer exacerbates ISO RGD:736961 D RGD:9068941 20211126 RGD protein:increased expression:lung (human) PMID:28903328|REF_RGD_ID:11555304 12140597 CD164 CD164 molecule gene DOID:630 genetic disease ISO RGD:736961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140597 CD164 CD164 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:736961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12140613 TONSL tonsoku like, DNA repair protein gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1316704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12140613 TONSL tonsoku like, DNA repair protein gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1316704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12140613 TONSL tonsoku like, DNA repair protein gene DOID:11612 polycystic ovary syndrome ISO RGD:1316704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12140613 TONSL tonsoku like, DNA repair protein gene DOID:4621 holoprosencephaly ISO RGD:1316704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12140613 TONSL tonsoku like, DNA repair protein gene DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type ISO RGD:1316704 D RGD:7240710 20190731 OMIM 12140613 TONSL tonsoku like, DNA repair protein gene DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type ISO RGD:1316704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sponastrime dysplasia | ClinVar Annotator: match by term: TONSL-related condition PMID:10797420|PMID:17576681|PMID:25741868|PMID:28492532|PMID:30773277|PMID:30773278|PMID:9536098 12140613 TONSL tonsoku like, DNA repair protein gene DOID:630 genetic disease ISO RGD:1316704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12140613 TONSL tonsoku like, DNA repair protein gene DOID:684 hepatocellular carcinoma ISO RGD:1316704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12140613 TONSL tonsoku like, DNA repair protein gene DOID:9008086 Developmental Disabilities ISO RGD:1316704 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 12140647 IPO13 importin 13 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532 12140647 IPO13 importin 13 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12140647 IPO13 importin 13 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532 12140647 IPO13 importin 13 gene DOID:630 genetic disease ISO RGD:731320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140673 TMEM192 transmembrane protein 192 gene DOID:630 genetic disease ISO RGD:1602829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140683 MGST2 microsomal glutathione S-transferase 2 gene DOID:630 genetic disease ISO RGD:1322562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140690 CYB5A cytochrome b5 type A (microsomal) gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:736806 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12140690 CYB5A cytochrome b5 type A (microsomal) gene DOID:0112316 methemoglobinemia and ambiguous genitalia ISO RGD:736806 D RGD:7240710 20180130 OMIM 12140690 CYB5A cytochrome b5 type A (microsomal) gene DOID:0112316 methemoglobinemia and ambiguous genitalia ISO RGD:736806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ISOLATED 17,20-LYASE DEFICIENCY, PURE PMID:20080843|PMID:22170710|PMID:25741868|PMID:3951505|PMID:8262522 12140690 CYB5A cytochrome b5 type A (microsomal) gene DOID:10783 methemoglobinemia ISO RGD:736806 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.S127P (human) PMID:2107882|REF_RGD_ID:1599659 12140690 CYB5A cytochrome b5 type A (microsomal) gene DOID:11394 adult respiratory distress syndrome ISO RGD:736806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12140690 CYB5A cytochrome b5 type A (microsomal) gene DOID:11400 pyelonephritis ISO RGD:620558 D RGD:9068941 20200609 RGD PMID:9848217|REF_RGD_ID:1599663 12140690 CYB5A cytochrome b5 type A (microsomal) gene DOID:289 endometriosis ISO RGD:736806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12140690 CYB5A cytochrome b5 type A (microsomal) gene DOID:630 genetic disease ISO RGD:736806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12140690 CYB5A cytochrome b5 type A (microsomal) gene DOID:6420 pulmonary valve stenosis ISO RGD:736806 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12140690 CYB5A cytochrome b5 type A (microsomal) gene DOID:8445 intestinal volvulus ISO RGD:736806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12140690 CYB5A cytochrome b5 type A (microsomal) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12140690 CYB5A cytochrome b5 type A (microsomal) gene DOID:9005309 Congenital Methemoglobinemia ISO RGD:736806 D RGD:9068941 20200609 RGD DNA:missense, nonsense mutations:splice junction,cds:multiple PMID:18343696|REF_RGD_ID:11352695 12140690 CYB5A cytochrome b5 type A (microsomal) gene DOID:9005309 Congenital Methemoglobinemia ISO RGD:736806 D RGD:9068941 20200609 RGD protein:decreased activity:erythrocyte membrane: PMID:7451647|REF_RGD_ID:11352693 12140690 CYB5A cytochrome b5 type A (microsomal) gene DOID:9008419 Volvulus Of Midgut ISO RGD:736806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12140690 CYB5A cytochrome b5 type A (microsomal) gene DOID:9637 stomatitis ISO RGD:736806 D RGD:9068941 20200609 RGD PMID:10406239|REF_RGD_ID:11352692 12140690 CYB5A cytochrome b5 type A (microsomal) gene DOID:9970 obesity ISO RGD:736806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12140699 TRIM3 tripartite motif containing 3 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:731725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12140699 TRIM3 tripartite motif containing 3 gene DOID:630 genetic disease ISO RGD:731725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140714 LOC478037 protocadherin alpha-6 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1346741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12140714 LOC478037 protocadherin alpha-6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346741 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12140714 LOC478037 protocadherin alpha-6 gene DOID:10283 prostate cancer ISO RGD:1346741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12140714 LOC478037 protocadherin alpha-6 gene DOID:10487 Hirschsprung's disease ISO RGD:1346741 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 12140714 LOC478037 protocadherin alpha-6 gene DOID:2228 thrombocytosis ISO RGD:1346741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytosis PMID:25741868 12140714 LOC478037 protocadherin alpha-6 gene DOID:630 genetic disease ISO RGD:1346741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140714 LOC478037 protocadherin alpha-6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12140714 LOC478037 protocadherin alpha-6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346741 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:0050469 Costello syndrome ISO RGD:732023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17703371 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732023 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:17704260|PMID:18060073|PMID:18632602|PMID:19344873|PMID:19411838|PMID:20301365|PMID:22327936|PMID:24033266|PMID:25049390|PMID:25157968|PMID:25741868|PMID:28492532|PMID:29402968|PMID:30763456|PMID:31487502 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:23444215|PMID:25157968|PMID:26619011 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17704260|PMID:17981815|PMID:18039235|PMID:1804226|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:20354455|PMID:21062266|PMID:21107320|PMID:22177953|PMID:22197931|PMID:22327936|PMID:22848035|PMID:23093928|PMID:23444215|PMID:23569304|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24458522|PMID:24637312|PMID:24803665|PMID:25049390|PMID:25157968|PMID:25326635|PMID:25423878|PMID:25741868|PMID:26350204|PMID:26619011|PMID:26795593|PMID:27862862|PMID:28049852|PMID:28492532|PMID:29402968|PMID:29493581|PMID:29643386|PMID:29907801|PMID:30087384|PMID:30141192|PMID:30763456|PMID:31487502|PMID:31942422|PMID:31972311|PMID:32005694|PMID:32978145|PMID:33482860 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:0060578 Noonan syndrome 1 ISO RGD:732023 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17981815|PMID:18042262|PMID:18413255|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19376813|PMID:22177953|PMID:22848035|PMID:23093928|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24637312|PMID:25326635|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26795593|PMID:27862862|PMID:28492532|PMID:30087384|PMID:31942422 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:0080690 RASopathy ISO RGD:732023 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:12370306|PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17576681|PMID:17704260|PMID:17981815|PMID:18039235|PMID:1804226|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:20354455|PMID:21062266|PMID:22177953|PMID:22197931|PMID:22327936|PMID:22588879|PMID:22848035|PMID:23093928|PMID:23321623|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24637312|PMID:25049390|PMID:25157968|PMID:25326635|PMID:25423878|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26619011|PMID:26795593|PMID:27862862|PMID:28049852|PMID:28492532|PMID:28955999|PMID:29402968|PMID:30763456|PMID:31487502|PMID:31942422|PMID:9536098 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:0080690 RASopathy ISO RGD:732023 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12370306|PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17576681|PMID:17704260|PMID:17981815|PMID:18039235|PMID:1804226|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:20354455|PMID:21062266|PMID:22177953|PMID:22197931|PMID:22327936|PMID:22588879|PMID:22848035|PMID:23093928|PMID:23321623|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24637312|PMID:25049390|PMID:25157968|PMID:25326635|PMID:25423878|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26619011|PMID:26795593|PMID:27862862|PMID:28049852|PMID:28492532|PMID:28955999|PMID:29402968|PMID:30087384|PMID:30763456|PMID:31487502|PMID:31942422|PMID:9536098 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:0080690 RASopathy ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12370306|PMID:12612583|PMID:15917206|PMID:16199547|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17576681|PMID:17704260|PMID:17981815|PMID:18039235|PMID:1804226|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18456719|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:20354455|PMID:21062266|PMID:21107320|PMID:22177953|PMID:22197931|PMID:22327936|PMID:22588879|PMID:22848035|PMID:23093928|PMID:23321623|PMID:23569304|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24637312|PMID:24803665|PMID:24982505|PMID:25049390|PMID:25157968|PMID:25326635|PMID:25344691|PMID:25423878|PMID:25741868|PMID:25741869|PMID:26343583|PMID:26350204|PMID:26619011|PMID:26795593|PMID:26918529|PMID:27862862|PMID:28049852|PMID:28492532|PMID:28955999|PMID:29402968|PMID:29753091|PMID:29907801|PMID:30087384|PMID:30763456|PMID:31487502|PMID:31942422|PMID:32005694|PMID:32978145|PMID:33502061|PMID:34006472|PMID:9536098 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:0111462 cardiofaciocutaneous syndrome 3 ISO RGD:732023 D RGD:7240710 20180130 OMIM 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:0111462 cardiofaciocutaneous syndrome 3 ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 3 | ClinVar Annotator: match by term: MAP2K1-Related Disorder PMID:12370306|PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17704260|PMID:17981815|PMID:18039235|PMID:1804226|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18456719|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:21062266|PMID:21107320|PMID:22177953|PMID:22197931|PMID:22327936|PMID:22588879|PMID:22848035|PMID:23093928|PMID:23569304|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24458522|PMID:24637312|PMID:24803665|PMID:25049390|PMID:25157968|PMID:25326635|PMID:25423878|PMID:25741868|PMID:25741869|PMID:26343583|PMID:26350204|PMID:26619011|PMID:26795593|PMID:27862862|PMID:28049852|PMID:28492532|PMID:29402968|PMID:29493581|PMID:29753091|PMID:29907801|PMID:30087384|PMID:30141192|PMID:30763456|PMID:31487502|PMID:31942422|PMID:31972311|PMID:32005694|PMID:32978145|PMID:33128510|PMID:33482860|PMID:34006472 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:0111563 Sturge-Weber syndrome ISO RGD:732023 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Parkes Weber syndrome PMID:25741868 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:732023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:14566 disease of cellular proliferation ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:19915144|PMID:23614898|PMID:28492532 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:1612 breast cancer ISO RGD:732023 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:tumor PMID:10216485|REF_RGD_ID:2292627 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:1909 melanoma ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:17366577|PMID:17551924|PMID:17704260|PMID:18060073|PMID:18456719|PMID:18632602|PMID:19344873|PMID:19411838|PMID:19915144|PMID:20301365|PMID:21107320|PMID:21383288|PMID:22197931|PMID:22327936|PMID:22588879|PMID:22622578|PMID:23444215|PMID:23569304|PMID:23614898|PMID:24033266|PMID:24448821|PMID:24803665|PMID:25049390|PMID:25157968|PMID:25741868|PMID:26343583|PMID:26619011|PMID:27862862|PMID:28049852|PMID:28492532|PMID:28495673|PMID:29402968|PMID:29643386|PMID:30763456|PMID:31487502|PMID:32005694|PMID:32978145|PMID:7651428 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:2316 brain ischemia ISO RGD:1550208 D RGD:9068941 20200609 RGD PMID:10536014|REF_RGD_ID:1582169 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:2316 brain ischemia ISO RGD:732023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17901229 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:23444215|PMID:25157968|PMID:26619011 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:70495 D RGD:9068941 20200609 RGD metastasis; inhibition reduced invasiveness of prostate tumor cells PMID:12688676|REF_RGD_ID:2292631 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:2671 transitional cell carcinoma ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:17366577|PMID:17551924|PMID:19915144|PMID:21107320|PMID:22197931|PMID:22588879|PMID:23569304|PMID:24033266|PMID:24803665|PMID:25157968|PMID:25741868|PMID:26343583|PMID:26619011|PMID:27862862|PMID:28049852|PMID:28492532|PMID:32005694|PMID:32978145 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:2717 Bloom syndrome ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:285 hairy cell leukemia ISO RGD:732023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24241536 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:3070 high grade glioma ISO RGD:732023 D RGD:9068941 20200609 RGD PMID:21057530|REF_RGD_ID:13702863 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:3490 Noonan syndrome ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome PMID:17366577|PMID:17704260|PMID:18060073|PMID:18456719|PMID:18632602|PMID:19344873|PMID:19411838|PMID:19915144|PMID:20301365|PMID:22197931|PMID:22327936|PMID:22588879|PMID:24033266|PMID:25049390|PMID:25157968|PMID:25741868|PMID:26343583|PMID:26619011|PMID:27862862|PMID:28049852|PMID:28492532|PMID:29402968|PMID:30763456|PMID:31487502|PMID:32978145 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:363 uterine cancer ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:17366577|PMID:17551924|PMID:19915144|PMID:21107320|PMID:22197931|PMID:22588879|PMID:23569304|PMID:24033266|PMID:24803665|PMID:25157968|PMID:25741868|PMID:26343583|PMID:26619011|PMID:27862862|PMID:28049852|PMID:28492532|PMID:32005694|PMID:32978145 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:23444215|PMID:25157968|PMID:26619011 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:25741868 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer | ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:17704260|PMID:18060073|PMID:18632602|PMID:19411838|PMID:19915144|PMID:20301365|PMID:22327936|PMID:23444215|PMID:23569304|PMID:24033266|PMID:25049390|PMID:25157968|PMID:25741868|PMID:28492532|PMID:29643386|PMID:30763456|PMID:7651428 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732023 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:17704260|PMID:18060073|PMID:18632602|PMID:19344873|PMID:19411838|PMID:19915144|PMID:20301365|PMID:22327936|PMID:23444215|PMID:23569304|PMID:24033266|PMID:25049390|PMID:25157968|PMID:25741868|PMID:28492532|PMID:29402968|PMID:29643386|PMID:30763456|PMID:31487502|PMID:7651428 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:62181 D RGD:9068941 20211210 RGD PMID:21514245|REF_RGD_ID:150530476 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:732023 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:18632602|PMID:21383288|PMID:22197931|PMID:22588879|PMID:23444215|PMID:24448821|PMID:25157968|PMID:25741868|PMID:26619011|PMID:29643386 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:4001 ovarian carcinoma ISO RGD:732023 D RGD:9068941 20200609 RGD PMID:12644821|REF_RGD_ID:2306053 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:732023 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:19513748|REF_RGD_ID:13838840 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:732023 D RGD:9068941 20200609 RGD human tissue in a mouse model PMID:28849200|REF_RGD_ID:13838804 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:4253 melorheostosis ISO RGD:732023 D RGD:7240710 20200701 OMIM 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:4253 melorheostosis ISO RGD:732023 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MELORHEOSTOSIS, ISOLATED | ClinVar Annotator: match by term: Melorheostosis PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17704260|PMID:17981815|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:22177953|PMID:22327936|PMID:22848035|PMID:23093928|PMID:23444215|PMID:23569304|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24637312|PMID:25049390|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26350204|PMID:26795593|PMID:27862862|PMID:28492532|PMID:29402968|PMID:29643386|PMID:30087384|PMID:30763456|PMID:31487502|PMID:31942422|PMID:7651428 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:732023 D RGD:9068941 20200609 RGD inhibition suppressed tumor growth and vascularization in an RCC xenograft model PMID:18172299|REF_RGD_ID:2292630 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:732023 D RGD:9068941 20200609 RGD protein:increased expression:tumor:13/25 cases (52%) PMID:7664295|REF_RGD_ID:2292629 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:4906 small intestine adenocarcinoma ISO RGD:732023 D RGD:9068941 20200609 RGD PMID:19014680|REF_RGD_ID:13464351 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:4989 pancreatitis severity ISO RGD:1550208 D RGD:9068941 20200609 RGD PMID:28090569|REF_RGD_ID:13838805 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:23444215|PMID:25157968|PMID:26619011 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:6000 congestive heart failure ISO RGD:732023 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:630 genetic disease ISO RGD:732023 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17981815|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19376813|PMID:19915144|PMID:22177953|PMID:22197931|PMID:22848035|PMID:23093928|PMID:23569304|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24637312|PMID:25326635|PMID:25741868|PMID:26350204|PMID:26795593|PMID:27862862|PMID:28049852|PMID:28492532|PMID:28495673|PMID:29493581|PMID:30087384|PMID:31942422 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:83 cataract ISO RGD:70495 D RGD:9068941 20200609 RGD PMID:11222509|REF_RGD_ID:12801446 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:8923 skin melanoma ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:17366577|PMID:17551924|PMID:19915144|PMID:21107320|PMID:22197931|PMID:22588879|PMID:23444215|PMID:23569304|PMID:24033266|PMID:24803665|PMID:25157968|PMID:25741868|PMID:26343583|PMID:26619011|PMID:27862862|PMID:28049852|PMID:28492532|PMID:32005694|PMID:32978145 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:70495 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:liver PMID:15520221|REF_RGD_ID:2306052 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732023 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32512071 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:9002682 Cardiovascular Abnormalities susceptibility ISO RGD:732023 D RGD:9068941 20200609 RGD PMID:16439621|REF_RGD_ID:1580093 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732023 D RGD:9068941 20200609 RGD PMID:18060073|REF_RGD_ID:2298686 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:732023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:17366577|PMID:17551924|PMID:19915144|PMID:21107320|PMID:22197931|PMID:22588879|PMID:23569304|PMID:24033266|PMID:24803665|PMID:25157968|PMID:25741868|PMID:26343583|PMID:26619011|PMID:27862862|PMID:28049852|PMID:28492532|PMID:32005694|PMID:32978145 12140765 MAP2K1 mitogen-activated protein kinase kinase 1 gene DOID:9256 colorectal cancer ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12140785 LAMTOR4 late endosomal/lysosomal adaptor, MAPK and MTOR activator 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12140785 LAMTOR4 late endosomal/lysosomal adaptor, MAPK and MTOR activator 4 gene DOID:630 genetic disease ISO RGD:1604690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140797 TRIM11 tripartite motif containing 11 gene DOID:1540 parathyroid carcinoma ISO RGD:1313482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12140797 TRIM11 tripartite motif containing 11 gene DOID:630 genetic disease ISO RGD:1313482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140797 TRIM11 tripartite motif containing 11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12140807 PELI3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1605259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 12140807 PELI3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:1059 intellectual disability ISO RGD:1605259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12140807 PELI3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12140807 PELI3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:2746 glycogen storage disease V ISO RGD:1605259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12140807 PELI3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:630 genetic disease ISO RGD:1605259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140807 PELI3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1605259 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12140807 PELI3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1605259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12140828 GTDC1 glycosyltransferase like domain containing 1 gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1354274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome PMID:12920073 12140828 GTDC1 glycosyltransferase like domain containing 1 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1354274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:21981781|PMID:23632792 12140828 GTDC1 glycosyltransferase like domain containing 1 gene DOID:2661 myoepithelioma ISO RGD:1354274 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12140828 GTDC1 glycosyltransferase like domain containing 1 gene DOID:630 genetic disease ISO RGD:1354274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140866 GRIP2 glutamate receptor interacting protein 2 gene DOID:0060417 3p deletion syndrome ISO RGD:1354510 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12140866 GRIP2 glutamate receptor interacting protein 2 gene DOID:630 genetic disease ISO RGD:1354510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140909 SPTLC3 serine palmitoyltransferase long chain base subunit 3 gene DOID:2491 sensory peripheral neuropathy ISO RGD:1351339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensory neuropathy PMID:23806086|PMID:24088041|PMID:26257172 12140909 SPTLC3 serine palmitoyltransferase long chain base subunit 3 gene DOID:630 genetic disease ISO RGD:1351339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140925 DNAJC16 DnaJ heat shock protein family (Hsp40) member C16 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603691 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12140925 DNAJC16 DnaJ heat shock protein family (Hsp40) member C16 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1603691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 12140925 DNAJC16 DnaJ heat shock protein family (Hsp40) member C16 gene DOID:630 genetic disease ISO RGD:1603691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140925 DNAJC16 DnaJ heat shock protein family (Hsp40) member C16 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1603691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 12140952 TRMT10A tRNA methyltransferase 10A gene DOID:630 genetic disease ISO RGD:1319496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24204302|PMID:25053765|PMID:26526202|PMID:26535115|PMID:28492532 12140952 TRMT10A tRNA methyltransferase 10A gene DOID:9006534 Nervous System Malformations ISO RGD:1319496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:24204302|PMID:25741868|PMID:26535115|PMID:28492532 12140952 TRMT10A tRNA methyltransferase 10A gene DOID:9006685 Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 ISO RGD:1319496 D RGD:7240710 20180130 OMIM 12140952 TRMT10A tRNA methyltransferase 10A gene DOID:9006685 Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 ISO RGD:1319496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 1 PMID:24204302|PMID:25053765|PMID:25741868|PMID:26535115|PMID:28492532 12140982 SUGP2 SURP and G-patch domain containing 2 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1314432 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 12140982 SUGP2 SURP and G-patch domain containing 2 gene DOID:630 genetic disease ISO RGD:1314432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12140982 SUGP2 SURP and G-patch domain containing 2 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1314432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12141015 TMEM201 transmembrane protein 201 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604210 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12141015 TMEM201 transmembrane protein 201 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604210 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12141015 TMEM201 transmembrane protein 201 gene DOID:630 genetic disease ISO RGD:1604210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141015 TMEM201 transmembrane protein 201 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12141029 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:0112361 spondylocostal dysostosis 3 ISO RGD:1350319 D RGD:7240710 20180130 OMIM 12141029 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:0112361 spondylocostal dysostosis 3 ISO RGD:1350319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 3, autosomal recessive PMID:16385447|PMID:17576681|PMID:25741868|PMID:28492532|PMID:29459493|PMID:30531807|PMID:9536098 12141029 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:0112362 spondylocostal dysostosis 2 ISO RGD:1350319 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive PMID:16385447 12141029 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:1350319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12141029 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:9003268 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal ISO RGD:1350319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal PMID:22279524|PMID:25500575|PMID:28492532 12141029 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:9006006 Spondylocostal Dysostosis, Autosomal Recessive ISO RGD:1350319 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12141041 LYRM1 LYR motif containing 1 gene DOID:630 genetic disease ISO RGD:1601746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141081 SERTAD4 SERTA domain containing 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1351903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12141081 SERTAD4 SERTA domain containing 4 gene DOID:630 genetic disease ISO RGD:1351903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141081 SERTAD4 SERTA domain containing 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12141088 STEEP1 STING1 ER exit protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12141088 STEEP1 STING1 ER exit protein 1 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1603201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 12141088 STEEP1 STING1 ER exit protein 1 gene DOID:0112054 non-syndromic X-linked intellectual disability 107 ISO RGD:1603201 D RGD:7240710 20190315 OMIM 12141088 STEEP1 STING1 ER exit protein 1 gene DOID:0112054 non-syndromic X-linked intellectual disability 107 ISO RGD:1603201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 107 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 107 PMID:25741868|PMID:29374277 12141088 STEEP1 STING1 ER exit protein 1 gene DOID:12849 autistic disorder ISO RGD:1603201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12141099 PRRT1 proline rich transmembrane protein 1 gene DOID:0050553 JMP syndrome ISO RGD:1345386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12141099 PRRT1 proline rich transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1345386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141107 CDAN1 codanin 1 gene DOID:0111396 congenital dyserythropoietic anemia type I ISO RGD:1315579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type I PMID:12434312|PMID:12825070|PMID:16098079|PMID:16141353|PMID:16754775|PMID:17576681|PMID:18081704|PMID:18575862|PMID:20301759|PMID:22407294|PMID:23065504|PMID:24196372|PMID:25741868|PMID:25741869|PMID:27432187|PMID:27827297|PMID:28102861|PMID:28132690|PMID:28492532|PMID:28755517|PMID:29031773|PMID:29668551|PMID:29676459|PMID:29901818|PMID:29936674|PMID:30487145|PMID:30836435|PMID:31900952|PMID:32160409|PMID:32518175|PMID:33401150|PMID:33777192|PMID:34782754|PMID:9536098 12141107 CDAN1 codanin 1 gene DOID:0111398 congenital dyserythropoietic anemia type Ia ISO RGD:1315579 D RGD:7240710 20191009 OMIM 12141107 CDAN1 codanin 1 gene DOID:0111398 congenital dyserythropoietic anemia type Ia ISO RGD:1315579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CDA, TYPE Ia | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia PMID:12434312|PMID:16098079|PMID:17576681|PMID:18081704|PMID:20301759|PMID:24196372|PMID:25741868|PMID:25741869|PMID:26467025|PMID:27432187|PMID:28102861|PMID:28492532|PMID:28755517|PMID:29031773|PMID:29599085|PMID:29676459|PMID:29936674|PMID:30836435|PMID:31900952|PMID:33401150|PMID:34782754|PMID:9536098 12141107 CDAN1 codanin 1 gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1315579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia 12141107 CDAN1 codanin 1 gene DOID:2717 Bloom syndrome ISO RGD:1315579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12141107 CDAN1 codanin 1 gene DOID:630 genetic disease ISO RGD:1315579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12141107 CDAN1 codanin 1 gene DOID:9256 colorectal cancer ISO RGD:1315579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12141145 LIMD2 LIM domain containing 2 gene DOID:630 genetic disease ISO RGD:1603297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141145 LIMD2 LIM domain containing 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1603297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 12141145 LIMD2 LIM domain containing 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1603297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 12141157 LOC611670 zinc finger protein 514 gene DOID:630 genetic disease ISO RGD:1347182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141175 EREG epiregulin gene DOID:0050598 extrapulmonary tuberculosis susceptibility ISO RGD:730898 D RGD:9068941 20201008 RGD DNA:SNP:exon 4: (rs2367707) (human) PMID:30634928|REF_RGD_ID:39457687 12141175 EREG epiregulin gene DOID:13270 erythropoietic protoporphyria ISO RGD:730898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19267999 12141175 EREG epiregulin gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:730898 D RGD:9068941 20201008 RGD DNA:SNP:exon 4: (rs2367707) (human) PMID:30634928|REF_RGD_ID:39457687 12141175 EREG epiregulin gene DOID:399 tuberculosis susceptibility ISO RGD:730898 D RGD:9068941 20201008 RGD DNA:SNP:intron: (rs7675690) (human) PMID:22170233|REF_RGD_ID:39457686 12141175 EREG epiregulin gene DOID:630 genetic disease ISO RGD:730898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141175 EREG epiregulin gene DOID:684 hepatocellular carcinoma ISO RGD:730898 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35776891 12141175 EREG epiregulin gene DOID:869 cholesteatoma ISO RGD:730898 D RGD:9068941 20201008 RGD mRNA:increased expression:external acoustic meatus (human) PMID:24256036|REF_RGD_ID:39457690 12141175 EREG epiregulin gene DOID:9000099 Experimental Colitis ISO RGD:730899 D RGD:9068941 20201008 RGD protein:increased expression:colonic mucosa (mouse) PMID:20498653|REF_RGD_ID:39457688 12141175 EREG epiregulin gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:730898 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12141175 EREG epiregulin gene DOID:9002762 Ovarian Neoplasms ISO RGD:730898 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15313392 12141194 FBXO48 F-box protein 48 gene DOID:630 genetic disease ISO RGD:1605751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141224 SAMD1 sterile alpha motif domain containing 1 gene DOID:630 genetic disease ISO RGD:1343473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141235 LOC100855887 zinc finger protein 226 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1343710 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12141235 LOC100855887 zinc finger protein 226 gene DOID:5419 schizophrenia ISO RGD:1343710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12141235 LOC100855887 zinc finger protein 226 gene DOID:630 genetic disease ISO RGD:1343710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141245 OR5K1 olfactory receptor family 5 subfamily K member 1 gene DOID:630 genetic disease ISO RGD:1347070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141253 SYNDIG1L synapse differentiation inducing 1 like gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1602232 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 12141253 SYNDIG1L synapse differentiation inducing 1 like gene DOID:1059 intellectual disability ISO RGD:1602232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12141253 SYNDIG1L synapse differentiation inducing 1 like gene DOID:630 genetic disease ISO RGD:1602232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141262 MIR92A-1 microRNA mir-92a-1 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1346101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 12141262 MIR92A-1 microRNA mir-92a-1 gene DOID:9538 multiple myeloma ISO RGD:1346101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29687521 12141324 MSH6 mutS homolog 6 gene DOID:0060104 cerebellar medulloblastoma ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar medulloblastoma 12141324 MSH6 mutS homolog 6 gene DOID:0070271 Lynch syndrome 1 ISO RGD:1321738 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:10348829|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10699937|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11807791|PMID:12376507|PMID:12732731|PMID:14520694|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15184898|PMID:15236168|PMID:15340264|PMID:1548301|PMID:15483016|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16771955|PMID:16813607|PMID:17117178|PMID:17453009|PMID:17531815|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18409202|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19723918|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20937110|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21239990|PMID:21520333|PMID:21671081|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22691310|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23621914|PMID:23733757|PMID:23755103|PMID:23990280|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24710284|PMID:24728189|PMID:24728327|PMID:25117503|PMID:25142776|PMID:25307252|PMID:25318681|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25617771|PMID:25637381|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26440929|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26832770|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27329137|PMID:27498913|PMID:27601186|PMID:27696107|PMID:28153049|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28878254|PMID:28944238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29785566|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30128536|PMID:30152102|PMID:30267214|PMID:30322717|PMID:30324682|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30608896|PMID:30702970|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31159747|PMID:31391288|PMID:31422818|PMID:31730237|PMID:31965077|PMID:32019284|PMID:32156018|PMID:32661327|PMID:32885271|PMID:33087929|PMID:33422027|PMID:33467402|PMID:33471991|PMID:34519692|PMID:35430768|PMID:35535697|PMID:36073783|PMID:5559809|PMID:8838326|PMID:9354786|PMID:9510473 12141324 MSH6 mutS homolog 6 gene DOID:0070271 Lynch syndrome 1 ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:10348829|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10699937|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11807791|PMID:12376507|PMID:12732731|PMID:14520694|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15236168|PMID:15340264|PMID:1548301|PMID:15483016|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16771955|PMID:16813607|PMID:17117178|PMID:17453009|PMID:17531815|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18409202|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19723918|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20937110|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21239990|PMID:21520333|PMID:21671081|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22691310|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23621914|PMID:23733757|PMID:23755103|PMID:23990280|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24710284|PMID:24728189|PMID:24728327|PMID:25117503|PMID:25142776|PMID:25307252|PMID:25318681|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25617771|PMID:25637381|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26440929|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26832770|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27329137|PMID:27398995|PMID:27498913|PMID:27601186|PMID:27696107|PMID:28153049|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28944238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29785566|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30128536|PMID:30152102|PMID:30267214|PMID:30322717|PMID:30324682|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30608896|PMID:30702970|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31159747|PMID:31391288|PMID:31422818|PMID:31730237|PMID:31965077|PMID:32019284|PMID:32156018|PMID:32661327|PMID:32885271|PMID:33087929|PMID:33422027|PMID:33467402|PMID:33471991|PMID:34271781|PMID:34519692|PMID:34637943|PMID:35128723|PMID:35430768|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36073783|PMID:36988593|PMID:5559809|PMID:8838326|PMID:9354786|PMID:9510473|PMID:9774676 12141324 MSH6 mutS homolog 6 gene DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 ISO RGD:1321738 D RGD:7240710 20180130 OMIM 12141324 MSH6 mutS homolog 6 gene DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 ISO RGD:1321738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:10413423|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:11153917|PMID:11333868|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:12920072|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17117178|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19389263|PMID:19526325|PMID:19575290|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20937110|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21437237|PMID:21520333|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22250089|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23755103|PMID:23757202|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24549055|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25648859|PMID:25670083|PMID:25741868|PMID:25751794|PMID:25848751|PMID:25871441|PMID:25892863|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26099011|PMID:26181448|PMID:26206375|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26437257|PMID:26440929|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27331139|PMID:27380347|PMID:27398995|PMID:27443514 12141324 MSH6 mutS homolog 6 gene DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:27449771|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528518|PMID:28531214|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28932927|PMID:28944238|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29300386|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29785566|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30680046|PMID:30702970|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30877237|PMID:30883245|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31841383|PMID:31845022|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32449172|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33654310|PMID:33693762|PMID:33827469|PMID:33888356|PMID:33937060|PMID:34271781|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35884469|PMID:35886069|PMID:35904628|PMID:36230473|PMID:36988593|PMID:7604266|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 12141324 MSH6 mutS homolog 6 gene DOID:0080199 colorectal carcinoma ISO RGD:1321738 D RGD:9068941 20200609 RGD PMID:9401011|REF_RGD_ID:1625103 12141324 MSH6 mutS homolog 6 gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:25741868|PMID:26467025|PMID:27028851|PMID:28492532|PMID:29967336 12141324 MSH6 mutS homolog 6 gene DOID:0080643 B-lymphoblastic leukemia/lymphoma with BCR-ABL1 ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 PMID:22658618|PMID:25741868|PMID:28492532 12141324 MSH6 mutS homolog 6 gene DOID:0110845 xeroderma pigmentosum group D ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group D PMID:25741868|PMID:28492532|PMID:33471991 12141324 MSH6 mutS homolog 6 gene DOID:0110957 Gaucher's disease type I ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gaucher disease type I PMID:22493294 12141324 MSH6 mutS homolog 6 gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1321738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:23621914|PMID:24033266|PMID:25142776|PMID:25326637|PMID:25741868|PMID:25980754|PMID:26689913|PMID:28492532|PMID:29684080|PMID:29945567|PMID:30267214|PMID:31159747|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31921681 12141324 MSH6 mutS homolog 6 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 12141324 MSH6 mutS homolog 6 gene DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 ISO RGD:1321738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 PMID:23621914|PMID:24033266|PMID:25142776|PMID:25326637|PMID:25741868|PMID:25980754|PMID:26689913|PMID:28492532|PMID:29684080|PMID:29945567|PMID:30267214|PMID:31159747|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31921681 12141324 MSH6 mutS homolog 6 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Constitutional mismatch repair deficiency syndrome | ClinVar Annotator: match by term: MMR DEFICIENCY | ClinVar Annotator: match by term: Turcot syndrome PMID:10508506|PMID:10537275|PMID:10612827|PMID:11470537|PMID:11807791|PMID:12019211|PMID:14520694|PMID:15483016|PMID:15872200|PMID:16000562|PMID:16283678|PMID:16813607|PMID:17531815|PMID:17557300|PMID:17594722|PMID:18269114|PMID:18301448|PMID:18809606|PMID:19389263|PMID:20028993|PMID:20379851|PMID:20487569|PMID:20531397|PMID:20937110|PMID:21120944|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22703879|PMID:22851212|PMID:23047549|PMID:23359684|PMID:23621914|PMID:23729658|PMID:23733757|PMID:24033266|PMID:24040339|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24448499|PMID:24728327|PMID:25133505|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25892863|PMID:25980754|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26552419|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27398995|PMID:27487738|PMID:28125075|PMID:28135145|PMID:28206961|PMID:28323777|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28528518|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29755653|PMID:29887214|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30267214|PMID:30322717|PMID:30324682|PMID:30702970|PMID:30982232|PMID:31100584|PMID:31159747|PMID:31204389|PMID:31307542|PMID:31360874|PMID:31391288|PMID:31422818|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31965077|PMID:32068069|PMID:32547938|PMID:32658311|PMID:32719484|PMID:32773772|PMID:32832836|PMID:32980694|PMID:33008098|PMID:33294277|PMID:33422027|PMID:33471991|PMID:35904628|PMID:36988593 12141324 MSH6 mutS homolog 6 gene DOID:10534 stomach cancer ISO RGD:1321738 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10471527|PMID:10508506|PMID:11807791|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14974087|PMID:15098177|PMID:15236168|PMID:15365995|PMID:15483016|PMID:15837969|PMID:16199547|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16813607|PMID:16885385|PMID:17082796|PMID:17117178|PMID:17453009|PMID:17557300|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18566915|PMID:18809606|PMID:19072991|PMID:19130300|PMID:19526325|PMID:19723918|PMID:19851887|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20937110|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22250089|PMID:22480969|PMID:22495361|PMID:22734033|PMID:22949379|PMID:23047549|PMID:23263490|PMID:23621914|PMID:23700467|PMID:23733757|PMID:23757202|PMID:24033266|PMID:24068316|PMID:24100870|PMID:24244552|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24728189|PMID:24933100|PMID:25006859|PMID:25110875|PMID:25117503|PMID:25194673|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26318770|PMID:26374070|PMID:26436112|PMID:26467025|PMID:26552419|PMID:26681312|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:27064304|PMID:27398995|PMID:27601186|PMID:27696107|PMID:27723366|PMID:27854360|PMID:27965287|PMID:27978560|PMID:28176205|PMID:28195393|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28724667|PMID:29212164|PMID:29360161|PMID:29371908|PMID:29785566|PMID:29978187|PMID:30019097|PMID:30093976|PMID:30147880|PMID:30322717|PMID:30324682|PMID:30387329|PMID:30521064|PMID:30536544|PMID:30702970|PMID:30730459|PMID:30787465|PMID:31391288|PMID:31447099|PMID:31491536|PMID:31501241|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31857677|PMID:31921681|PMID:32008151|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32141610|PMID:32242007|PMID:32449172|PMID:32652087|PMID:32660107|PMID:32719484|PMID:32832836|PMID:33087929|PMID:33393477|PMID:33422027|PMID:33693762|PMID:34271781|PMID:34425783|PMID:34637943|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36988593|PMID:9307272|PMID:9929971 12141324 MSH6 mutS homolog 6 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1321738 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:18254781|REF_RGD_ID:2293503 12141324 MSH6 mutS homolog 6 gene DOID:12192 sigmoid colon cancer ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sigmoid colon cancer PMID:12376507|PMID:18809606|PMID:19924528|PMID:20176959|PMID:22283331|PMID:24710284|PMID:24728327|PMID:25536104|PMID:25741868|PMID:26046366|PMID:26467025|PMID:28492532|PMID:9354786 12141324 MSH6 mutS homolog 6 gene DOID:1380 endometrial cancer ISO RGD:1321738 D RGD:7240710 20190213 OMIM 12141324 MSH6 mutS homolog 6 gene DOID:1520 colon carcinoma ISO RGD:1321738 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10699937|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12537658|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14585961|PMID:14871975|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15236168|PMID:15340264|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15805151|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18176851|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18415027|PMID:18523027|PMID:18566915|PMID:18625694|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19130300|PMID:19250818|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19851887|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21520333|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22219001|PMID:22250089|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23263490|PMID:23294250|PMID:23403630|PMID:23523604|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23990280|PMID:24033266|PMID:24072394|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:25117503|PMID:25186627|PMID:25231023|PMID:25307252|PMID:25318681|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25561518|PMID:25617771|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25751794|PMID:25871441|PMID:25980754|PMID:26023681|PMID:26181448|PMID:26274037|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787237|PMID:26845104|PMID:26898890|PMID:26900293|PMID:27013479|PMID:27028851|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27498913|PMID:27601186|PMID:27723366|PMID:27863258|PMID:28125075|PMID:28135145|PMID:28153049|PMID:28176205|PMID:28323777|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28528517|PMID:28531214|PMID:28687356|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28944238|PMID:29212164|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29575718|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29887214|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30306255|PMID:30322717|PMID:30337059|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30729418|PMID:31054147|PMID:31100584|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31447099|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31647837|PMID:31730237|PMID:31857677|PMID:31965077|PMID:31997046|PMID:32008151|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32242007|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32809219|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33693762|PMID:8838326|PMID:9345684|PMID:9536098 12141324 MSH6 mutS homolog 6 gene DOID:1520 colon carcinoma ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10699937|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12537658|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14585961|PMID:14871975|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15236168|PMID:15340264|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15805151|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18176851|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18415027|PMID:18523027|PMID:18566915|PMID:18625694|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19130300|PMID:19250818|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19723918|PMID:19851887|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21520333|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22219001|PMID:22250089|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23263490|PMID:23294250|PMID:23403630|PMID:23523604|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23990280|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:25117503|PMID:25186627|PMID:25231023|PMID:25307252|PMID:25318681|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25561518|PMID:25617771|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25751794|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26181448|PMID:26274037|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26681312|PMID:26689913|PMID:26787237|PMID:26845104|PMID:26898890|PMID:26900293|PMID:27013479|PMID:27028851|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27498913|PMID:27601186|PMID:27723366|PMID:27863258|PMID:28125075|PMID:28135145|PMID:28153049|PMID:28176205|PMID:28323777|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28528517|PMID:28531214|PMID:28591191|PMID:28687356|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28944238|PMID:29174094|PMID:29212164|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29575718|PMID:29641532|PMID:29684080|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29887214|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30376427|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30787465|PMID:30877237|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31447099|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31647837|PMID:31660093|PMID:31730237|PMID:31845022|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31997046|PMID:32008151|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32068069|PMID:32156018|PMID:32242007|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32832836 12141324 MSH6 mutS homolog 6 gene DOID:1520 colon carcinoma ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:32854451|PMID:32885271|PMID:32906206|PMID:33087929|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33693762|PMID:33746161|PMID:34425783|PMID:35128723|PMID:35263119|PMID:36988593|PMID:8838326|PMID:9345684|PMID:9536098|PMID:9774676 12141324 MSH6 mutS homolog 6 gene DOID:1612 breast cancer ISO RGD:1321738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:15952900|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:23729658|PMID:24033266|PMID:24055113|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26901136|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28166811|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31921681|PMID:32019277|PMID:32615015|PMID:32980694|PMID:33471991 12141324 MSH6 mutS homolog 6 gene DOID:1612 breast cancer ISO RGD:1321738 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26901136|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31921681|PMID:32019277|PMID:32615015|PMID:32634176|PMID:32980694|PMID:33471991 12141324 MSH6 mutS homolog 6 gene DOID:1612 breast cancer ISO RGD:1321738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31666926|PMID:31921681|PMID:32019277|PMID:32068069|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32658311|PMID:32659497|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33471991|PMID:34271781|PMID:34637943|PMID:35263119|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35884469 12141324 MSH6 mutS homolog 6 gene DOID:1612 breast cancer ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27398995|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31666926|PMID:31921681|PMID:32019277|PMID:32068069|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32658311|PMID:32659497|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33471991|PMID:34271781|PMID:34637943|PMID:35263119|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36988593 12141324 MSH6 mutS homolog 6 gene DOID:1896 sigmoid neoplasm ISO RGD:1321738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sigmoid colon cancer PMID:12376507|PMID:18809606|PMID:19924528|PMID:20176959|PMID:22283331|PMID:24710284|PMID:24728327|PMID:25536104|PMID:25741868|PMID:26046366|PMID:26467025|PMID:28492532|PMID:9354786 12141324 MSH6 mutS homolog 6 gene DOID:234 colon adenocarcinoma ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma PMID:25741868 12141324 MSH6 mutS homolog 6 gene DOID:2394 ovarian cancer ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:10508506|PMID:10537275|PMID:11470537|PMID:12019211|PMID:15782118|PMID:16408224|PMID:16885385|PMID:17312306|PMID:17531815|PMID:17594722|PMID:18566915|PMID:21120944|PMID:22102614|PMID:22495361|PMID:23047549|PMID:23403630|PMID:23621914|PMID:24033266|PMID:24040339|PMID:24100870|PMID:24448499|PMID:25559809|PMID:25637381|PMID:25741868|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26580448|PMID:26689913|PMID:27601186|PMID:28466842|PMID:28492532|PMID:28531214|PMID:28873162|PMID:29945567|PMID:30267214|PMID:30982232|PMID:31307542|PMID:31742824|PMID:32068069|PMID:33294277|PMID:33471991 12141324 MSH6 mutS homolog 6 gene DOID:2871 endometrial carcinoma ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10471527|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12537658|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14585961|PMID:14871975|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16408224|PMID:16418736|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17259933|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17718861|PMID:17909073|PMID:18033691|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18625694|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19130300|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19526325|PMID:19575290|PMID:19851887|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20937110|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21520333|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22734033|PMID:22810696|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23263490|PMID:23359684|PMID:23523604|PMID:23621914|PMID:23652311|PMID:23729658|PMID:23733757|PMID:23757202|PMID:23773459|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24448499|PMID:24549055|PMID:24689082|PMID:24728189|PMID:24728327|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25231023|PMID:25318681|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25561518|PMID:25617771|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26099011|PMID:26206375|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26436109|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26648449|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26901136|PMID:26934580|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27329137|PMID:27380347|PMID:27398995|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27487738|PMID:27498913|PMID:27601186|PMID:27696107|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27920101|PMID:27930734|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28323777|PMID:28369758|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28528518|PMID:28531214|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28912153|PMID:28944238|PMID:29212164|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29717530|PMID:29755653|PMID:29887214|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29978187|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30128536|PMID:30147880|PMID:30225334|PMID:30267214|PMID:30322717|PMID:30324682|PMID:30387329|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30670635|PMID:30702970|PMID:30730459|PMID:30787465|PMID:30877237 12141324 MSH6 mutS homolog 6 gene DOID:2871 endometrial carcinoma ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31159747|PMID:31204389|PMID:31297337|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31447099|PMID:31501241|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31783044|PMID:31844177|PMID:31845022|PMID:31857677|PMID:31921681|PMID:3195077|PMID:31965077|PMID:31970404|PMID:32008151|PMID:32019284|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32113160|PMID:32141610|PMID:32242007|PMID:32251017|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32615015|PMID:32642664|PMID:32658311|PMID:32660107|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33294277|PMID:33422027|PMID:33471991|PMID:33606809|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:35128723|PMID:35263119|PMID:35884469|PMID:35904628|PMID:36988593|PMID:5559809|PMID:8063241|PMID:9307272|PMID:9536098|PMID:9774676|PMID:9929971 12141324 MSH6 mutS homolog 6 gene DOID:3247 rhabdomyosarcoma ISO RGD:1321738 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:21520333|PMID:26467025|PMID:28153049|PMID:28492532|PMID:29750335|PMID:29755653|PMID:30128536|PMID:31100584|PMID:31965077|PMID:33467402 12141324 MSH6 mutS homolog 6 gene DOID:3347 osteosarcoma disease_progression ISO RGD:1321738 D RGD:9068941 20210430 RGD PMID:25503122|REF_RGD_ID:126848779 12141324 MSH6 mutS homolog 6 gene DOID:3459 breast carcinoma ISO RGD:1321738 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Carcinoma of breast PMID:10537275|PMID:10699937|PMID:11470537|PMID:12019211|PMID:12732731|PMID:15098177|PMID:15236168|PMID:15483016|PMID:15782118|PMID:15805151|PMID:16203774|PMID:16270383|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16771955|PMID:16885385|PMID:18269114|PMID:18301448|PMID:18355840|PMID:18409202|PMID:18523027|PMID:18566915|PMID:19072991|PMID:20028993|PMID:20487569|PMID:21039432|PMID:21056691|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23263490|PMID:23621914|PMID:24033266|PMID:24040339|PMID:24362816|PMID:25117503|PMID:25479140|PMID:25559809|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26832770|PMID:27601186|PMID:27696107|PMID:28176205|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29212164|PMID:29345684|PMID:29785566|PMID:29978187|PMID:30521064|PMID:31391288|PMID:31857677|PMID:31965077|PMID:32242007|PMID:33471991|PMID:8838326 12141324 MSH6 mutS homolog 6 gene DOID:3459 breast carcinoma ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:10537275|PMID:10699937|PMID:11470537|PMID:12019211|PMID:12732731|PMID:15098177|PMID:15236168|PMID:15483016|PMID:15782118|PMID:15805151|PMID:16203774|PMID:16270383|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16771955|PMID:16885385|PMID:18269114|PMID:18301448|PMID:18355840|PMID:18409202|PMID:18523027|PMID:18566915|PMID:19072991|PMID:20028993|PMID:20487569|PMID:21039432|PMID:21056691|PMID:21520333|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23263490|PMID:23621914|PMID:24033266|PMID:24040339|PMID:24362816|PMID:25117503|PMID:25479140|PMID:25559809|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26832770|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28176205|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29212164|PMID:29345684|PMID:29785566|PMID:29978187|PMID:30521064|PMID:31391288|PMID:31857677|PMID:31965077|PMID:32242007|PMID:33471991|PMID:34271781|PMID:34637943|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36988593|PMID:8838326 12141324 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23554159|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771 12141324 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:2633163|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27920101|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28166811|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32068069|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:4520694|PMID:5559809|PMID:8063241|PMID:8176851|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473 12141324 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:9536098|PMID:9564049|PMID:9774676|PMID:9819445|PMID:9929971 12141324 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20301500|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23554159|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518 12141324 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:2633163|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27920101|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28166811|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:34519692|PMID:4520694|PMID:5559809|PMID:8063241|PMID:8176851|PMID:8838326|PMID:9307272|PMID:9345684 12141324 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9819445|PMID:9929971 12141324 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083 12141324 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694 12141324 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35535697|PMID:35806449|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 12141324 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854218|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502 12141324 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35535697|PMID:35806449|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 12141324 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631 12141324 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32449172|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107 12141324 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35430768|PMID:35535697|PMID:35806449|PMID:36073783|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 12141324 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30733081|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681 12141324 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32875559|PMID:32885271|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34343771|PMID:34359559|PMID:34425783|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35263119|PMID:35430768|PMID:35535697|PMID:35806449|PMID:36073783|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 12141324 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140 12141324 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31609810|PMID:31642931 12141324 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31822864|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:35039564|PMID:35070997|PMID:35245693|PMID:35263119|PMID:35430768|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:36073783|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 12141324 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159 12141324 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756 12141324 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31822864|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:35039564|PMID:35070997|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35430768|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35904628|PMID:36073783|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 12141324 MSH6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31822864|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34048176|PMID:34145315|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:35039564|PMID:35070997|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35402282|PMID:35430768|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:36073783|PMID:36230473|PMID:36988593|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 12141324 MSH6 mutS homolog 6 gene DOID:3910 lung adenocarcinoma ISO RGD:1321738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21327329 12141324 MSH6 mutS homolog 6 gene DOID:3948 adrenocortical carcinoma ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 12141324 MSH6 mutS homolog 6 gene DOID:4001 ovarian carcinoma ISO RGD:1321738 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:20028993|PMID:25741868|PMID:26517685 12141324 MSH6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:10675480|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29338689|PMID:29575718|PMID:29684080|PMID:29887214|PMID:30093976|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31102422|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32566746|PMID:32773772|PMID:9510473 12141324 MSH6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:10675480|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29338689|PMID:29575718|PMID:29684080|PMID:29887214|PMID:30093976|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31102422|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32773772|PMID:33309985|PMID:33471991|PMID:9510473 12141324 MSH6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:10675480|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29338689|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31102422|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32773772|PMID:33309985|PMID:33471991|PMID:9510473 12141324 MSH6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27294619|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29338689|PMID:29345684|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30128536|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31102422|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31660093|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32773772|PMID:32854451|PMID:33309985|PMID:33471991|PMID:9510473 12141324 MSH6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27294619|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29338689|PMID:29345684|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30128536|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31660093|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32773772|PMID:32854451|PMID:33309985|PMID:33471991|PMID:34371384|PMID:9510473 12141324 MSH6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19389263|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21239990|PMID:21642682|PMID:21674763|PMID:22006311|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27601186|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29212164|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30387329|PMID:30612635|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31845022|PMID:31965077|PMID:32060697|PMID:32068069|PMID:32141610|PMID:32295079|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32660107|PMID:32773772|PMID:32854451|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:34371384|PMID:35128723|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971 12141324 MSH6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19389263|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21239990|PMID:21642682|PMID:21674763|PMID:22006311|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27601186|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29212164|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30387329|PMID:30612635|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31845022|PMID:31965077|PMID:32060697|PMID:32068069|PMID:32141610|PMID:32295079|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32660107|PMID:32773772|PMID:32854451|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:34371384|PMID:35128723|PMID:36988593|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971 12141324 MSH6 mutS homolog 6 gene DOID:630 genetic disease ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11709755|PMID:17576681|PMID:23621914|PMID:24033266|PMID:24362816|PMID:24728327|PMID:25419514|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26333163|PMID:26467025|PMID:26901136|PMID:28492532|PMID:28691247|PMID:29684080|PMID:30057029|PMID:30267214|PMID:31422818|PMID:32068069|PMID:32615015|PMID:32658311|PMID:33471991|PMID:9536098 12141324 MSH6 mutS homolog 6 gene DOID:6741 bilateral breast cancer ISO RGD:1321738 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: bilateral breast cancer PMID:23047549|PMID:23621914|PMID:25741868|PMID:26467025|PMID:26689913|PMID:28492532|PMID:28687356|PMID:29641532|PMID:29684080|PMID:31159747|PMID:32658311|PMID:33558524 12141324 MSH6 mutS homolog 6 gene DOID:687 hepatoblastoma ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:21520333|PMID:25741868|PMID:28492532 12141324 MSH6 mutS homolog 6 gene DOID:9000027 Microsatellite Instability ISO RGD:1321738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 12141324 MSH6 mutS homolog 6 gene DOID:9000027 Microsatellite Instability ISO RGD:2322311 D RGD:9068941 20210430 RGD PMID:18417481|REF_RGD_ID:2292505 12141324 MSH6 mutS homolog 6 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1321738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29616133 12141324 MSH6 mutS homolog 6 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:18269114|PMID:24362816|PMID:28492532 12141324 MSH6 mutS homolog 6 gene DOID:9003108 CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia PMID:23621914|PMID:24033266|PMID:25142776|PMID:25326637|PMID:25741868|PMID:25980754|PMID:26689913|PMID:28492532|PMID:29684080|PMID:29945567|PMID:30267214|PMID:31159747|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31921681 12141324 MSH6 mutS homolog 6 gene DOID:9003892 Mismatch Repair Cancer Syndrome 1 ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 PMID:10508506|PMID:10537275|PMID:10612827|PMID:11470537|PMID:11807791|PMID:12019211|PMID:14520694|PMID:15483016|PMID:15872200|PMID:16813607|PMID:17531815|PMID:17594722|PMID:18269114|PMID:18301448|PMID:18809606|PMID:19389263|PMID:20028993|PMID:20379851|PMID:20487569|PMID:20937110|PMID:21120944|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22703879|PMID:22851212|PMID:23047549|PMID:23359684|PMID:23621914|PMID:23733757|PMID:24033266|PMID:24040339|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24448499|PMID:24728327|PMID:25133505|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25892863|PMID:25980754|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26552419|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27398995|PMID:27487738|PMID:28125075|PMID:28135145|PMID:28206961|PMID:28323777|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28528518|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29755653|PMID:29887214|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30267214|PMID:30322717|PMID:30324682|PMID:30702970|PMID:30982232|PMID:31100584|PMID:31204389|PMID:31307542|PMID:31360874|PMID:31391288|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31965077|PMID:32068069|PMID:32547938|PMID:32658311|PMID:32719484|PMID:32773772|PMID:32832836|PMID:32980694|PMID:33008098|PMID:33294277|PMID:33422027|PMID:33471991|PMID:35904628|PMID:36988593 12141324 MSH6 mutS homolog 6 gene DOID:9004351 Digestive System Neoplasms ISO RGD:1321738 D RGD:9068941 20200609 RGD PMID:9401011|REF_RGD_ID:1625103 12141324 MSH6 mutS homolog 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24728327|PMID:25741868|PMID:28492532|PMID:28691247|PMID:30057029 12141324 MSH6 mutS homolog 6 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1321738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29616133 12141324 MSH6 mutS homolog 6 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1321738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary prostate cancer PMID:18269114|PMID:24362816|PMID:28492532 12141324 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23554159|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821 12141324 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:2633163|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28166811|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32068069|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:5559809|PMID:8063241|PMID:8176851|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 12141324 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20301500|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23554159|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794 12141324 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:2633163|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28166811|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:34519692|PMID:5559809|PMID:8063241|PMID:8176851|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 12141324 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441 12141324 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:34445333|PMID:34519692|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 12141324 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441 12141324 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692 12141324 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:35039564|PMID:35535697|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 12141324 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854218|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310 12141324 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35535697|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 12141324 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25712738|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29182773|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30211344|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30733081|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31131953|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31604779|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044 12141324 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31815888|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32875559|PMID:32885271|PMID:32941469|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34343771|PMID:34359559|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34873480|PMID:35039564|PMID:35263119|PMID:35535697|PMID:35806449|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 12141324 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31604779|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31815888|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:34873480|PMID:35039564|PMID:35070997|PMID:35245693|PMID:35263119|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 12141324 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:12920072|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18759827|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20600922|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22204421|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22480969|PMID:22493294|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514 12141324 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25712738|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29174094|PMID:29182773|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31131953|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241 12141324 MSH6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31570381|PMID:31588121|PMID:31604779|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31815888|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34048176|PMID:34145315|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:34873480|PMID:35039564|PMID:35070997|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35402282|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:36230473|PMID:36988593|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 12141324 MSH6 mutS homolog 6 gene DOID:9007150 Urogenital Neoplasms ISO RGD:1321738 D RGD:9068941 20200609 RGD DNA, protein:frameshift mutation, decreased expression PMID:16288216|REF_RGD_ID:2293511 12141324 MSH6 mutS homolog 6 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1321738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10508506 12141324 MSH6 mutS homolog 6 gene DOID:9008631 progressive myoclonus epilepsy 5 ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 PMID:23621914|PMID:24033266|PMID:25142776|PMID:25326637|PMID:25741868|PMID:25980754|PMID:26689913|PMID:28492532|PMID:29684080|PMID:29945567|PMID:30267214|PMID:31159747|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31921681 12141324 MSH6 mutS homolog 6 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1321738 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:17576681|PMID:25741868|PMID:28492532|PMID:35806449|PMID:9536098 12141324 MSH6 mutS homolog 6 gene DOID:9009145 Mismatch Repair Cancer Syndrome 3 ISO RGD:1321738 D RGD:7240710 20201202 OMIM 12141324 MSH6 mutS homolog 6 gene DOID:9009145 Mismatch Repair Cancer Syndrome 3 ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mismatch repair cancer syndrome 3 PMID:10508506|PMID:10521294|PMID:10537275|PMID:10699937|PMID:11153917|PMID:11586295|PMID:11709755|PMID:12537658|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14585961|PMID:14871975|PMID:15098177|PMID:15184898|PMID:15236168|PMID:15340263|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15805151|PMID:15837969|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16418736|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17082796|PMID:17117178|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17661183|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19459153|PMID:19526325|PMID:19851887|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:21056691|PMID:21155762|PMID:21642682|PMID:21674763|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22734033|PMID:22810696|PMID:22949387|PMID:23047549|PMID:23263490|PMID:23621914|PMID:23652311|PMID:23757202|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24689082|PMID:24728327|PMID:24989436|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25318681|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25980754|PMID:25985138|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26552419|PMID:26681312|PMID:26787237|PMID:26845104|PMID:27028851|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27380347|PMID:27443514|PMID:27456091|PMID:27601186|PMID:27854360|PMID:27863258|PMID:28125075|PMID:28135145|PMID:28176205|PMID:28195393|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28944238|PMID:29212164|PMID:29345684|PMID:29348823|PMID:29371908|PMID:29684080|PMID:29717530|PMID:29978187|PMID:30093976|PMID:30147880|PMID:30322717|PMID:30337059|PMID:30387329|PMID:30521064|PMID:30729418|PMID:30730459|PMID:30787465|PMID:31054147|PMID:31391288|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31666926|PMID:31783044|PMID:31845022|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32042422|PMID:32060697|PMID:32141610|PMID:32242007|PMID:32449172|PMID:32566746|PMID:32660107|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32832836|PMID:33087929|PMID:33471991|PMID:34371384|PMID:34425783|PMID:34519692|PMID:36988593|PMID:9307272|PMID:9929971 12141324 MSH6 mutS homolog 6 gene DOID:9009213 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities PMID:25741868|PMID:28492532|PMID:28691247|PMID:30057029|PMID:30679813|PMID:34505148 12141324 MSH6 mutS homolog 6 gene DOID:9256 colorectal cancer ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10537275|PMID:10612827|PMID:11470537|PMID:11900875|PMID:14520694|PMID:15340264|PMID:15872200|PMID:16813607|PMID:18790734|PMID:19389263|PMID:19766128|PMID:21437237|PMID:22290698|PMID:22851212|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24393486|PMID:24728327|PMID:25186627|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26206375|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26845104|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:29212164|PMID:29368341|PMID:29684080|PMID:30374176|PMID:31159747|PMID:31391288|PMID:31428572|PMID:31965077 12141324 MSH6 mutS homolog 6 gene DOID:9256 colorectal cancer ISO RGD:1321738 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10537275|PMID:10612827|PMID:11470537|PMID:11900875|PMID:14520694|PMID:15340264|PMID:15872200|PMID:16813607|PMID:18269114|PMID:18790734|PMID:19389263|PMID:19766128|PMID:21437237|PMID:22290698|PMID:22851212|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24362816|PMID:24393486|PMID:24728327|PMID:25186627|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26206375|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26845104|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:29212164|PMID:29368341|PMID:29684080|PMID:30374176|PMID:31159747|PMID:31391288|PMID:31428572|PMID:31965077 12141324 MSH6 mutS homolog 6 gene DOID:9256 colorectal cancer ISO RGD:1321738 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10537275|PMID:10612827|PMID:11470537|PMID:11900875|PMID:14520694|PMID:15340264|PMID:15872200|PMID:16813607|PMID:18269114|PMID:18790734|PMID:19389263|PMID:19766128|PMID:21437237|PMID:22290698|PMID:22851212|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24362816|PMID:24393486|PMID:24728327|PMID:25186627|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26206375|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26845104|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:29212164|PMID:29368341|PMID:29684080|PMID:30374176|PMID:31159747|PMID:31391288|PMID:31428572|PMID:31965077|PMID:33471991 12141324 MSH6 mutS homolog 6 gene DOID:9256 colorectal cancer ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10537275|PMID:10612827|PMID:11470537|PMID:11900875|PMID:14520694|PMID:15340264|PMID:15872200|PMID:16813607|PMID:18269114|PMID:18790734|PMID:19389263|PMID:19766128|PMID:21437237|PMID:22290698|PMID:22851212|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24362816|PMID:24393486|PMID:24728327|PMID:25186627|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26206375|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26845104|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:29212164|PMID:29368341|PMID:29684080|PMID:30374176|PMID:30982232|PMID:31159747|PMID:31391288|PMID:31428572|PMID:31965077|PMID:33471991|PMID:35128723 12141324 MSH6 mutS homolog 6 gene DOID:9460 uterine corpus cancer ISO RGD:1321738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:18269114|PMID:24362816|PMID:25741868|PMID:26467025|PMID:28492532 12141337 PLCB3 phospholipase C beta 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:731269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12141337 PLCB3 phospholipase C beta 3 gene DOID:0112303 spondylometaphyseal dysplasia with corneal dystrophy ISO RGD:731269 D RGD:7240710 20200812 OMIM 12141337 PLCB3 phospholipase C beta 3 gene DOID:0112303 spondylometaphyseal dysplasia with corneal dystrophy ISO RGD:731269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia with corneal dystrophy PMID:29122926 12141337 PLCB3 phospholipase C beta 3 gene DOID:1059 intellectual disability ISO RGD:731269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12141337 PLCB3 phospholipase C beta 3 gene DOID:12858 Huntington's disease ISO RGD:62285 D RGD:9068941 20200609 RGD PMID:22917585|REF_RGD_ID:13432582 12141337 PLCB3 phospholipase C beta 3 gene DOID:3070 high grade glioma ISO RGD:731269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12141337 PLCB3 phospholipase C beta 3 gene DOID:5844 myocardial infarction ISO RGD:61993 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:9521338|REF_RGD_ID:2314514 12141337 PLCB3 phospholipase C beta 3 gene DOID:630 genetic disease ISO RGD:731269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141337 PLCB3 phospholipase C beta 3 gene DOID:8549 chronic ulcer of skin ISO RGD:62285 D RGD:9068941 20200609 RGD PMID:10669417|REF_RGD_ID:737745 12141337 PLCB3 phospholipase C beta 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61993 D RGD:9068941 20200609 RGD protein:decreased expression:heart left ventricle PMID:15362504|REF_RGD_ID:2314509 12141372 CCN2 cellular communication network factor 2 gene DOID:0080001 bone disease ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA:increased expression:long bone (rat) PMID:10679821|REF_RGD_ID:632527 12141372 CCN2 cellular communication network factor 2 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24154679 12141372 CCN2 cellular communication network factor 2 gene DOID:10763 hypertension ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16685210 12141372 CCN2 cellular communication network factor 2 gene DOID:11714 gestational diabetes ISO RGD:731013 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34175429 12141372 CCN2 cellular communication network factor 2 gene DOID:12236 primary biliary cholangitis ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:19371232|REF_RGD_ID:2314517 12141372 CCN2 cellular communication network factor 2 gene DOID:12932 endomyocardial fibrosis ISO RGD:621392 D RGD:9068941 20200609 RGD PMID:19902320|REF_RGD_ID:2314357 12141372 CCN2 cellular communication network factor 2 gene DOID:12932 endomyocardial fibrosis ISO RGD:621392 D RGD:9068941 20200609 RGD protein:increased expression:myocardium, cardiomyocyte (rat) PMID:19293040|REF_RGD_ID:2314529 12141372 CCN2 cellular communication network factor 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17121042 12141372 CCN2 cellular communication network factor 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 12141372 CCN2 cellular communication network factor 2 gene DOID:14330 Parkinson's disease ISO RGD:621392 D RGD:9068941 20200609 RGD protein:increased expression:substantia nigra (rat) PMID:19463894|REF_RGD_ID:2314505 12141372 CCN2 cellular communication network factor 2 gene DOID:2394 ovarian cancer ISO RGD:731013 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovarian carcinoma (human) PMID:19382180|REF_RGD_ID:2314512 12141372 CCN2 cellular communication network factor 2 gene DOID:2773 contact dermatitis ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12141372 CCN2 cellular communication network factor 2 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:621392 D RGD:9068941 20200609 RGD protein:increased expression:kidney, glomerulus (rat) PMID:15172885|REF_RGD_ID:1601118 12141372 CCN2 cellular communication network factor 2 gene DOID:299 adenocarcinoma ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 12141372 CCN2 cellular communication network factor 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (rat) PMID:19659652|REF_RGD_ID:2314483 12141372 CCN2 cellular communication network factor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15298857|PMID:15677772|PMID:25815693|PMID:26817844 12141372 CCN2 cellular communication network factor 2 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:621392 D RGD:9068941 20200609 RGD PMID:19154443|REF_RGD_ID:2314537 12141372 CCN2 cellular communication network factor 2 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:731014 D RGD:9068941 20200609 RGD PMID:19154443|REF_RGD_ID:2314537 12141372 CCN2 cellular communication network factor 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20939759|PMID:21258935 12141372 CCN2 cellular communication network factor 2 gene DOID:397 restrictive cardiomyopathy ISO RGD:621392 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:cardiac muscle tissue (rat) PMID:19381071|REF_RGD_ID:2314513 12141372 CCN2 cellular communication network factor 2 gene DOID:4001 ovarian carcinoma ISO RGD:731013 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:30365097 12141372 CCN2 cellular communication network factor 2 gene DOID:418 systemic scleroderma ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24706986 12141372 CCN2 cellular communication network factor 2 gene DOID:5082 liver cirrhosis ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16652398|PMID:17657819|PMID:26396155 12141372 CCN2 cellular communication network factor 2 gene DOID:5082 liver cirrhosis ameliorates ISO RGD:621392 D RGD:9068941 20230401 RGD PMID:36469291|REF_RGD_ID:243048439 12141372 CCN2 cellular communication network factor 2 gene DOID:5082 liver cirrhosis ameliorates ISO RGD:731014 D RGD:9068941 20230401 RGD PMID:26946098|PMID:36469291|REF_RGD_ID:243048439|REF_RGD_ID:40925947 12141372 CCN2 cellular communication network factor 2 gene DOID:5199 ureteral obstruction ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:18987110|REF_RGD_ID:2314607 12141372 CCN2 cellular communication network factor 2 gene DOID:57 aortic valve insufficiency ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA:increased expression:left ventricle (rat) PMID:19112094|REF_RGD_ID:2314539 12141372 CCN2 cellular communication network factor 2 gene DOID:57 aortic valve insufficiency ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 12141372 CCN2 cellular communication network factor 2 gene DOID:5844 myocardial infarction ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA:increased expression:left ventricle (rat) PMID:18167060|REF_RGD_ID:2314623 12141372 CCN2 cellular communication network factor 2 gene DOID:5844 myocardial infarction treatment ISO RGD:621392 D RGD:9068941 20200716 RGD PMID:29849775|REF_RGD_ID:35673318 12141372 CCN2 cellular communication network factor 2 gene DOID:6000 congestive heart failure ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17229371 12141372 CCN2 cellular communication network factor 2 gene DOID:630 genetic disease ISO RGD:731013 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141372 CCN2 cellular communication network factor 2 gene DOID:6432 pulmonary hypertension ISO RGD:621392 D RGD:9068941 20200609 RGD protein:increased expression:pulmonary artery (rat) PMID:19234054|REF_RGD_ID:2314535 12141372 CCN2 cellular communication network factor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 12141372 CCN2 cellular communication network factor 2 gene DOID:850 lung disease ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20939759|PMID:21258935 12141372 CCN2 cellular communication network factor 2 gene DOID:8947 diabetic retinopathy ISO RGD:621392 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA:increased expression:retina (rat) PMID:19450451|REF_RGD_ID:2314507 12141372 CCN2 cellular communication network factor 2 gene DOID:9000784 Fibrosis ISO RGD:621392 D RGD:9068941 20200609 RGD PMID:18790236|REF_RGD_ID:2314612 12141372 CCN2 cellular communication network factor 2 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:621392 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:19080126|REF_RGD_ID:2314603 12141372 CCN2 cellular communication network factor 2 gene DOID:9000972 Fever ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA:increased expression:meninges (rat) PMID:19582783|REF_RGD_ID:2314489 12141372 CCN2 cellular communication network factor 2 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258935 12141372 CCN2 cellular communication network factor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:19856102|REF_RGD_ID:2314367 12141372 CCN2 cellular communication network factor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12141372 CCN2 cellular communication network factor 2 gene DOID:9002055 Chronic Allograft Nephropathy disease_progression ISO RGD:621392 D RGD:9068941 20211015 RGD mRNA, protein:increased expression:kidney (rat) PMID:19921985|REF_RGD_ID:150517553 12141372 CCN2 cellular communication network factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:621392 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:kidney (rat) PMID:19065061|REF_RGD_ID:2314604 12141372 CCN2 cellular communication network factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:621392 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:kidney, glomerulus (rat) PMID:19895808|REF_RGD_ID:2314366 12141372 CCN2 cellular communication network factor 2 gene DOID:9003291 Aggressive Fibromatosis ISO RGD:731013 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor (human) PMID:19366727|REF_RGD_ID:2314525 12141372 CCN2 cellular communication network factor 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:621392 D RGD:9068941 20200609 RGD PMID:19707545|REF_RGD_ID:2314476 12141372 CCN2 cellular communication network factor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 12141372 CCN2 cellular communication network factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart, myocardium (rat) PMID:19820199|REF_RGD_ID:2314021 12141372 CCN2 cellular communication network factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621392 D RGD:9068941 20230302 RGD mRNA:increased expression:heart left ventricle (rat) PMID:19625611|REF_RGD_ID:2314487 12141372 CCN2 cellular communication network factor 2 gene DOID:9005749 Necrosis ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (rat) PMID:19395590|REF_RGD_ID:2314511 12141372 CCN2 cellular communication network factor 2 gene DOID:9006182 Carotid Artery Injuries ISO RGD:621392 D RGD:9068941 20200609 RGD protein:increased expression:arterial wall (rat) PMID:19570811|REF_RGD_ID:2314490 12141372 CCN2 cellular communication network factor 2 gene DOID:9006709 Primary Graft Dysfunction exacerbates ISO RGD:621392 D RGD:9068941 20211126 RGD protein:increased expression:urine (rat) PMID:19921985|REF_RGD_ID:150517553 12141372 CCN2 cellular communication network factor 2 gene DOID:9006958 Generalized Arterial Calcification of Infancy, 1 ISO RGD:731013 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 12141372 CCN2 cellular communication network factor 2 gene DOID:9007456 Female Infertility ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21868453 12141372 CCN2 cellular communication network factor 2 gene DOID:9007661 Dwarfism ISO RGD:731014 D RGD:9068941 20200609 RGD PMID:11237711|REF_RGD_ID:734846 12141372 CCN2 cellular communication network factor 2 gene DOID:9008163 Chronic Hepatitis B ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17657819 12141372 CCN2 cellular communication network factor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:left ventricle (rat) PMID:19902320|REF_RGD_ID:2314357 12141372 CCN2 cellular communication network factor 2 gene DOID:9477 pulmonary embolism ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA:increased expression:right ventricle (rat) PMID:19602618|REF_RGD_ID:2314488 12141372 CCN2 cellular communication network factor 2 gene DOID:971 tendinitis ISO RGD:621392 D RGD:9068941 20200609 RGD protein:increased expression:flexor digitorum profundus, flexor digitorum superficialis, fibroblast (rat) PMID:19743505|REF_RGD_ID:2314473 12141381 NLRP5 NLR family pyrin domain containing 5 gene DOID:0111705 oculoectodermal syndrome ISO RGD:1348361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome PMID:20738330|PMID:26323243 12141381 NLRP5 NLR family pyrin domain containing 5 gene DOID:630 genetic disease ISO RGD:1348361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141381 NLRP5 NLR family pyrin domain containing 5 gene DOID:9004994 Embryo Loss ISO RGD:1348361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Preimplantation embryonic lethality 12141381 NLRP5 NLR family pyrin domain containing 5 gene DOID:9006204 Oocyte/Zygote/Embryo Maturation Arrest 19 ISO RGD:1348361 D RGD:7240710 20230505 OMIM 12141381 NLRP5 NLR family pyrin domain containing 5 gene DOID:9006204 Oocyte/Zygote/Embryo Maturation Arrest 19 ISO RGD:1348361 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 19 PMID:35091966|PMID:35946397 12141398 ATG4C autophagy related 4C cysteine peptidase gene DOID:0080415 developmental and epileptic encephalopathy 23 ISO RGD:1317140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 PMID:28492532 12141398 ATG4C autophagy related 4C cysteine peptidase gene DOID:1059 intellectual disability ISO RGD:1317140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12141398 ATG4C autophagy related 4C cysteine peptidase gene DOID:630 genetic disease ISO RGD:1317140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141398 ATG4C autophagy related 4C cysteine peptidase gene DOID:8778 Crohn's disease ISO RGD:1317140 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 12141426 ZNF182 zinc finger protein 182 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12141426 ZNF182 zinc finger protein 182 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1342789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 12141426 ZNF182 zinc finger protein 182 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1342789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12141426 ZNF182 zinc finger protein 182 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1342789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12141426 ZNF182 zinc finger protein 182 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1342789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12141426 ZNF182 zinc finger protein 182 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1342789 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12141426 ZNF182 zinc finger protein 182 gene DOID:12849 autistic disorder ISO RGD:1342789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12141426 ZNF182 zinc finger protein 182 gene DOID:630 genetic disease ISO RGD:1342789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141452 KRT40 keratin 40 gene DOID:630 genetic disease ISO RGD:1606169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141463 LOC608550 ferritin heavy chain-like gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348564 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12141463 LOC608550 ferritin heavy chain-like gene DOID:630 genetic disease ISO RGD:1348564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141463 LOC608550 ferritin heavy chain-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12141463 LOC608550 ferritin heavy chain-like gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348564 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12141468 CCDC51 coiled-coil domain containing 51 gene DOID:630 genetic disease ISO RGD:1602866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141468 CCDC51 coiled-coil domain containing 51 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1602866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12141498 LOC102151849 keratin-associated protein 6-2 gene DOID:630 genetic disease ISO RGD:2311719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141507 LPL lipoprotein lipase gene DOID:0050700 cardiomyopathy ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10533957 12141507 LPL lipoprotein lipase gene DOID:0080000 muscular disease ISO RGD:70836 D RGD:9068941 20200609 RGD PMID:7635990|REF_RGD_ID:1302535 12141507 LPL lipoprotein lipase gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:27978932|PMID:30214514|REF_RGD_ID:13793398|REF_RGD_ID:13794377 12141507 LPL lipoprotein lipase gene DOID:0080600 COVID-19 ISO RGD:70836 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12141507 LPL lipoprotein lipase gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:70836 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:28492532|PMID:32041611|PMID:33303402 12141507 LPL lipoprotein lipase gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:70836 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:28492532|PMID:32041611|PMID:33303402 12141507 LPL lipoprotein lipase gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:70836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 12141507 LPL lipoprotein lipase gene DOID:10608 celiac disease ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 12141507 LPL lipoprotein lipase gene DOID:10652 Alzheimer's disease ISO RGD:70836 D RGD:9068941 20200609 RGD PMID:24004859|REF_RGD_ID:13793392 12141507 LPL lipoprotein lipase gene DOID:10652 Alzheimer's disease ISO RGD:70836 D RGD:9068941 20200609 RGD DNA:SNPs: :rs268, rs328 (human) PMID:16013913|REF_RGD_ID:5685661 12141507 LPL lipoprotein lipase gene DOID:10652 Alzheimer's disease ISO RGD:70836 D RGD:9068941 20200609 RGD DNA:point mutations: :p.N291S, p.S447X (human) PMID:10206232|REF_RGD_ID:13799353 12141507 LPL lipoprotein lipase gene DOID:10652 Alzheimer's disease ISO RGD:70836 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:15331147|REF_RGD_ID:13793396 12141507 LPL lipoprotein lipase gene DOID:10652 Alzheimer's disease no_association ISO RGD:70836 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:27897113|REF_RGD_ID:13793395 12141507 LPL lipoprotein lipase gene DOID:10652 Alzheimer's disease no_association ISO RGD:70836 D RGD:9068941 20200609 RGD DNA:point mutations: :p.N291S, p.S447X (human) PMID:12133567|REF_RGD_ID:13793397 12141507 LPL lipoprotein lipase gene DOID:10652 Alzheimer's disease severity ISO RGD:70836 D RGD:9068941 20200609 RGD DNA, mRNA:SNP, decreased expression: :rs285 (human) PMID:16965549|REF_RGD_ID:13793393 12141507 LPL lipoprotein lipase gene DOID:10763 hypertension ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 12141507 LPL lipoprotein lipase gene DOID:10763 hypertension ISO RGD:70836 D RGD:9068941 20200806 RGD PMID:16132104|REF_RGD_ID:1580535 12141507 LPL lipoprotein lipase gene DOID:1168 familial hyperlipidemia ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17658632 12141507 LPL lipoprotein lipase gene DOID:1168 familial hyperlipidemia ISO RGD:70836 D RGD:9068941 20200609 RGD PMID:9920508|REF_RGD_ID:1556571 12141507 LPL lipoprotein lipase gene DOID:1168 familial hyperlipidemia treatment ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:29931882|REF_RGD_ID:13794383 12141507 LPL lipoprotein lipase gene DOID:1287 cardiovascular system disease ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16544732 12141507 LPL lipoprotein lipase gene DOID:12930 dilated cardiomyopathy ISO RGD:70836 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic PMID:28492532|PMID:32041611|PMID:33303402 12141507 LPL lipoprotein lipase gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:14531811|REF_RGD_ID:2308781 12141507 LPL lipoprotein lipase gene DOID:13809 familial combined hyperlipidemia ISO RGD:70836 D RGD:7240710 20180130 OMIM 12141507 LPL lipoprotein lipase gene DOID:13809 familial combined hyperlipidemia ISO RGD:70836 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10364086|PMID:10517255|PMID:11260209|PMID:11334614|PMID:11893776|PMID:12839295|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:15877202|PMID:1598907|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:18350203|PMID:1872917|PMID:18922999|PMID:19335919|PMID:1969408|PMID:1975597|PMID:2038366|PMID:20650961|PMID:21146168|PMID:21159338|PMID:22095987|PMID:22239554|PMID:22691586|PMID:23212406|PMID:23484243|PMID:2394828|PMID:24033266|PMID:24291057|PMID:24366202|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24747307|PMID:24793350|PMID:25741868|PMID:25966443|PMID:26156051|PMID:26337181|PMID:26975783|PMID:27055971|PMID:27142713|PMID:27150867|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28951076|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29748148|PMID:30150141|PMID:30210108|PMID:31589614|PMID:31619059|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7753827|PMID:7906986|PMID:8096693|PMID:8099055|PMID:8199176|PMID:8541837|PMID:8732773|PMID:8808493|PMID:8872057|PMID:9401010|PMID:9550358|PMID:9811888 12141507 LPL lipoprotein lipase gene DOID:13809 familial combined hyperlipidemia ISO RGD:70836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10364086|PMID:10517255|PMID:10560236|PMID:10619999|PMID:11260209|PMID:11334614|PMID:11893776|PMID:12204001|PMID:12655575|PMID:12839295|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:15877202|PMID:1598907|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1639392|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:17476032|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:18350203|PMID:1872917|PMID:18922999|PMID:1907278|PMID:19335919|PMID:1969408|PMID:1975597|PMID:2038366|PMID:20650961|PMID:21146168|PMID:21159338|PMID:22095987|PMID:22239554|PMID:22691586|PMID:23212406|PMID:23484243|PMID:2394828|PMID:24033266|PMID:24291057|PMID:24366202|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24646025|PMID:24747307|PMID:24793350|PMID:25741868|PMID:25966443|PMID:26079787|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26975783|PMID:27055971|PMID:27097985|PMID:27142713|PMID:27150867|PMID:27206937|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28951076|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29748148|PMID:29921298|PMID:30150141|PMID:30210108|PMID:30420299|PMID:31589614|PMID:31619059|PMID:31669931|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:33588820|PMID:35309119|PMID:35368694|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7753827|PMID:7906986|PMID:8096693|PMID:8099055|PMID:8199176|PMID:8541837|PMID:8732773|PMID:8808493|PMID:8872057|PMID:8956048|PMID:8973094|PMID:9401010|PMID:9550358|PMID:9811888 12141507 LPL lipoprotein lipase gene DOID:13809 familial combined hyperlipidemia ISO RGD:70836 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10364086|PMID:10517255|PMID:10560236|PMID:10619999|PMID:11260209|PMID:11334614|PMID:11893776|PMID:12204001|PMID:12655575|PMID:12839295|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:15877202|PMID:1598907|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1639392|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:17476032|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:18350203|PMID:1872917|PMID:18922999|PMID:1907278|PMID:19335919|PMID:1969408|PMID:1975597|PMID:2038366|PMID:20650961|PMID:21146168|PMID:21159338|PMID:22095987|PMID:22239554|PMID:22691586|PMID:23212406|PMID:23484243|PMID:2394828|PMID:24033266|PMID:24291057|PMID:24366202|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24646025|PMID:24747307|PMID:24793350|PMID:25741868|PMID:25966443|PMID:26079787|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26975783|PMID:27055971|PMID:27097985|PMID:27142713|PMID:27150867|PMID:27206937|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28951076|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29748148|PMID:29921298|PMID:30150141|PMID:30210108|PMID:30420299|PMID:30559189|PMID:31153847|PMID:31589614|PMID:31619059|PMID:31669931|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:33588820|PMID:35309119|PMID:35368694|PMID:36555767|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7753827|PMID:7906986|PMID:8096693|PMID:8099055|PMID:8199176|PMID:8541837|PMID:8732773|PMID:8808493|PMID:8872057|PMID:8956048|PMID:8973094|PMID:9401010|PMID:9550358|PMID:9811888 12141507 LPL lipoprotein lipase gene DOID:14118 familial lipoprotein lipase deficiency ISO RGD:70836 D RGD:7240710 20180130 OMIM 12141507 LPL lipoprotein lipase gene DOID:14118 familial lipoprotein lipase deficiency ISO RGD:70836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperlipemia essential familial | ClinVar Annotator: match by term: Hyperlipoproteinemia, type I PMID:10364086|PMID:10407505|PMID:10431049|PMID:10517255|PMID:10560236|PMID:10619999|PMID:10735636|PMID:11134145|PMID:11260209|PMID:11334614|PMID:11893776|PMID:12204001|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:1530621|PMID:1562620|PMID:1576758|PMID:15840743|PMID:15877202|PMID:1598907|PMID:16174715|PMID:16199547|PMID:16278884|PMID:1639392|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:1737848|PMID:1752947|PMID:17717288|PMID:18068174|PMID:1833777|PMID:18350203|PMID:18649389|PMID:1872917|PMID:1907278|PMID:1937490|PMID:1969408|PMID:1975597|PMID:2010533|PMID:2038366|PMID:2110364|PMID:21146168|PMID:21159338|PMID:2121025|PMID:22095987|PMID:22129523|PMID:22239554|PMID:2294743|PMID:23212406|PMID:23246289|PMID:23484243|PMID:2349938|PMID:2394828|PMID:24033266|PMID:24212298|PMID:24291057|PMID:24366202|PMID:24627108|PMID:24646025|PMID:24793350|PMID:2536938|PMID:25741868|PMID:25966443|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26892137|PMID:27055971|PMID:27142713|PMID:27153815|PMID:27573733|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28606150|PMID:28951076|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29479812|PMID:29748148|PMID:29921298|PMID:30150141|PMID:31619059|PMID:6645961|PMID:7647785|PMID:7818530|PMID:7906986|PMID:8077845|PMID:8096693|PMID:8099055|PMID:8135797|PMID:8199176|PMID:8228642|PMID:8288243|PMID:8325986|PMID:8486765|PMID:8541837|PMID:8567671|PMID:8843465|PMID:8858123|PMID:8872057|PMID:9225235|PMID:9279761|PMID:9401010|PMID:9550358|PMID:9714430|PMID:9811888 12141507 LPL lipoprotein lipase gene DOID:14118 familial lipoprotein lipase deficiency ISO RGD:70836 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial Lipoprotein Lipase Deficiency | ClinVar Annotator: match by term: Hyperlipemia essential familial | ClinVar Annotator: match by term: Hyperlipoproteinemia, type I PMID:10364086|PMID:10407505|PMID:10431049|PMID:10517255|PMID:10560236|PMID:10619999|PMID:10735636|PMID:11134145|PMID:11260209|PMID:11334614|PMID:11730817|PMID:11893776|PMID:12204001|PMID:12655575|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:1521525|PMID:1530621|PMID:1562620|PMID:1576758|PMID:15840743|PMID:15877202|PMID:1598907|PMID:16174715|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1639392|PMID:16431216|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:1737848|PMID:17476032|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:1833777|PMID:18350203|PMID:18649389|PMID:1872917|PMID:18922999|PMID:1907278|PMID:19335919|PMID:1937490|PMID:1969408|PMID:1975597|PMID:2010533|PMID:2038366|PMID:20650961|PMID:2110364|PMID:21146168|PMID:21159338|PMID:2121025|PMID:22095987|PMID:22129523|PMID:22239554|PMID:22691586|PMID:2294743|PMID:23212406|PMID:23246289|PMID:23484243|PMID:2349938|PMID:2394828|PMID:24033266|PMID:24212298|PMID:24291057|PMID:24366202|PMID:24497850|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24646025|PMID:24747307|PMID:24793350|PMID:2536938|PMID:25525159|PMID:25741868|PMID:25966443|PMID:26079787|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26892137|PMID:26975783|PMID:27055971|PMID:27097985|PMID:27142713|PMID:27150867|PMID:27153815|PMID:27206937|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28695157|PMID:28951076|PMID:28958672|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29479812|PMID:29748148|PMID:29921298|PMID:30150141|PMID:30210108|PMID:30333156|PMID:30389453|PMID:30420299|PMID:30559189|PMID:31153847|PMID:31589614|PMID:31619059|PMID:31669931|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:33879184|PMID:36555767|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7818530|PMID:7906986|PMID:8077845|PMID:8096693|PMID:8099055|PMID:8135797|PMID:8199176|PMID:8228642|PMID:8288243|PMID:8325986|PMID:8486765|PMID:8541837|PMID:8567671|PMID:8732773|PMID:8808493|PMID:8843465|PMID:8858123|PMID:8872057|PMID:8956048|PMID:8973094|PMID:9225235|PMID:9279761|PMID:9401010|PMID:9550358|PMID:9714430|PMID:9811888 12141507 LPL lipoprotein lipase gene DOID:14221 abdominal obesity-metabolic syndrome 1 treatment ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:26996629|REF_RGD_ID:13794382 12141507 LPL lipoprotein lipase gene DOID:1883 hepatitis C ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17517063 12141507 LPL lipoprotein lipase gene DOID:305 carcinoma ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12141507 LPL lipoprotein lipase gene DOID:3393 coronary artery disease ISO RGD:70836 D RGD:9068941 20200609 RGD PMID:8641022|REF_RGD_ID:1580537 12141507 LPL lipoprotein lipase gene DOID:4989 pancreatitis ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18936103 12141507 LPL lipoprotein lipase gene DOID:5844 myocardial infarction susceptibility ISO RGD:70836 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP: :p.D9N (rs1801177) (human) PMID:18823627|REF_RGD_ID:2313302 12141507 LPL lipoprotein lipase gene DOID:630 genetic disease ISO RGD:70836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12839295|PMID:18068174|PMID:22239554|PMID:24793350|PMID:25741868|PMID:25966443|PMID:27578109|PMID:28267856|PMID:28492532|PMID:31669931|PMID:32041611|PMID:33217533|PMID:33588820|PMID:35309119|PMID:35368694 12141507 LPL lipoprotein lipase gene DOID:783 end stage renal disease ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:22009636|REF_RGD_ID:6909179 12141507 LPL lipoprotein lipase gene DOID:9000288 Chronic Intermittent Hypoxia treatment ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:29968701|REF_RGD_ID:13793400 12141507 LPL lipoprotein lipase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12141507 LPL lipoprotein lipase gene DOID:9000528 Coronary Disease ISO RGD:70836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary heart disease PMID:10364086|PMID:10517255|PMID:21146168|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8199176|PMID:8541837|PMID:8872057 12141507 LPL lipoprotein lipase gene DOID:9000808 Hypercholesterolemia ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21852083 12141507 LPL lipoprotein lipase gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:28442378|REF_RGD_ID:13794376 12141507 LPL lipoprotein lipase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12141507 LPL lipoprotein lipase gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:70836 D RGD:9068941 20200609 RGD PMID:16813599|REF_RGD_ID:2306755 12141507 LPL lipoprotein lipase gene DOID:9002180 Familial Hyperchylomicronemia Syndrome ISO RGD:70836 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia type 1 PMID:10364086|PMID:10407505|PMID:10431049|PMID:10517255|PMID:10560236|PMID:10619999|PMID:10735636|PMID:11334614|PMID:11730817|PMID:11893776|PMID:12204001|PMID:12655575|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:1562620|PMID:1576758|PMID:15877202|PMID:1598907|PMID:16174715|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1639392|PMID:16431216|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:1737848|PMID:17476032|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:18350203|PMID:18649389|PMID:1872917|PMID:18922999|PMID:1907278|PMID:19335919|PMID:1969408|PMID:1975597|PMID:2038366|PMID:20650961|PMID:21146168|PMID:21159338|PMID:22095987|PMID:22129523|PMID:22239554|PMID:22691586|PMID:23212406|PMID:23246289|PMID:23484243|PMID:2394828|PMID:24033266|PMID:24212298|PMID:24291057|PMID:24366202|PMID:24497850|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24646025|PMID:24747307|PMID:24793350|PMID:25741868|PMID:25966443|PMID:26079787|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26892137|PMID:26975783|PMID:27055971|PMID:27097985|PMID:27142713|PMID:27150867|PMID:27206937|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28695157|PMID:28951076|PMID:28958672|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29748148|PMID:29921298|PMID:30150141|PMID:30210108|PMID:30389453|PMID:30420299|PMID:30559189|PMID:31153847|PMID:31589614|PMID:31619059|PMID:31669931|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:33879184|PMID:36555767|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7906986|PMID:8096693|PMID:8099055|PMID:8199176|PMID:8541837|PMID:8732773|PMID:8808493|PMID:8843465|PMID:8872057|PMID:8956048|PMID:8973094|PMID:9279761|PMID:9401010|PMID:9811888 12141507 LPL lipoprotein lipase gene DOID:9002304 Prostatic Neoplasms ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15386377 12141507 LPL lipoprotein lipase gene DOID:9002928 Colonic Neoplasms ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12141507 LPL lipoprotein lipase gene DOID:9003370 Dyslipidemias ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17952847 12141507 LPL lipoprotein lipase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12141507 LPL lipoprotein lipase gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 12141507 LPL lipoprotein lipase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:18780778|REF_RGD_ID:2313303 12141507 LPL lipoprotein lipase gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:27158912|REF_RGD_ID:13794379 12141507 LPL lipoprotein lipase gene DOID:9005749 Necrosis ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10533957 12141507 LPL lipoprotein lipase gene DOID:9005911 Hyperapobetalipoproteinemia ISO RGD:70836 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hyperapobetalipoproteinemia PMID:10560236|PMID:10619999|PMID:11334614|PMID:11893776|PMID:12204001|PMID:12655575|PMID:12839295|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:15877202|PMID:1598907|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1639392|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:17476032|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:18350203|PMID:1872917|PMID:18922999|PMID:1907278|PMID:19335919|PMID:1969408|PMID:1975597|PMID:2038366|PMID:20650961|PMID:21159338|PMID:22095987|PMID:22239554|PMID:22691586|PMID:23212406|PMID:23484243|PMID:2394828|PMID:24291057|PMID:24366202|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24646025|PMID:24747307|PMID:24793350|PMID:25741868|PMID:25966443|PMID:26079787|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26975783|PMID:27055971|PMID:27097985|PMID:27142713|PMID:27150867|PMID:27206937|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28951076|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29748148|PMID:29921298|PMID:30150141|PMID:30210108|PMID:30420299|PMID:30559189|PMID:31153847|PMID:31589614|PMID:31619059|PMID:31669931|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:33588820|PMID:35309119|PMID:35368694|PMID:36555767|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7906986|PMID:8096693|PMID:8099055|PMID:8541837|PMID:8732773|PMID:8808493|PMID:8956048|PMID:8973094|PMID:9401010|PMID:9811888 12141507 LPL lipoprotein lipase gene DOID:9006599 Hypertriglyceridemia ISO RGD:70836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia PMID:25741868 12141507 LPL lipoprotein lipase gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:70836 D RGD:9068941 20200609 RGD PMID:17848837|REF_RGD_ID:2313305 12141507 LPL lipoprotein lipase gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:27071702|REF_RGD_ID:13794380 12141507 LPL lipoprotein lipase gene DOID:9007692 Insulin Resistance ISO RGD:10876 D RGD:9068941 20200609 RGD PMID:18952837|REF_RGD_ID:2313300 12141507 LPL lipoprotein lipase gene DOID:9352 type 2 diabetes mellitus ISO RGD:70836 D RGD:9068941 20200609 RGD PMID:8641022|REF_RGD_ID:1580537 12141507 LPL lipoprotein lipase gene DOID:9352 type 2 diabetes mellitus ISO RGD:70836 D RGD:9068941 20200609 RGD DNA:SNP:intron:13836C>A (rs343) (human) PMID:18985010|REF_RGD_ID:2313298 12141507 LPL lipoprotein lipase gene DOID:9352 type 2 diabetes mellitus ISO RGD:70836 D RGD:9068941 20200609 RGD associated with Obesity PMID:18321693|REF_RGD_ID:2313304 12141507 LPL lipoprotein lipase gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:29981201|REF_RGD_ID:13793399 12141507 LPL lipoprotein lipase gene DOID:9970 obesity ISO RGD:10876 D RGD:9068941 20200609 RGD PMID:18952837|REF_RGD_ID:2313300 12141507 LPL lipoprotein lipase gene DOID:9970 obesity ISO RGD:3017 D RGD:9068941 20200609 RGD mRNA:increased expression:white fat PMID:17712951|REF_RGD_ID:2313580 12141507 LPL lipoprotein lipase gene DOID:9970 obesity ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18344982 12141507 LPL lipoprotein lipase gene DOID:9970 obesity treatment ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:27160499|PMID:28514832|REF_RGD_ID:13793401|REF_RGD_ID:13794378 12141521 MDM2 MDM2 proto-oncogene gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1313299 D RGD:9068941 20200609 RGD protein:increased expression:biliary epithelium (human) PMID:16505435|REF_RGD_ID:2317415 12141521 MDM2 MDM2 proto-oncogene gene DOID:0050908 myelodysplastic syndrome no_association ISO RGD:1313299 D RGD:9068941 20200609 RGD DNA:SNP:cds:309T>G(rs2279744)(human) PMID:22668018|REF_RGD_ID:11073731 12141521 MDM2 MDM2 proto-oncogene gene DOID:0060071 pre-malignant neoplasm ISO RGD:1313299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14555611 12141521 MDM2 MDM2 proto-oncogene gene DOID:10923 sickle cell anemia ISO RGD:1313300 D RGD:9068941 20200609 RGD PMID:21085184|REF_RGD_ID:10412315 12141521 MDM2 MDM2 proto-oncogene gene DOID:11054 urinary bladder cancer severity ISO RGD:1313299 D RGD:9068941 20200609 RGD mRNA:increased expression:bladder PMID:27798881|REF_RGD_ID:13602098 12141521 MDM2 MDM2 proto-oncogene gene DOID:1115 sarcoma ISO RGD:1313299 D RGD:9068941 20200609 RGD DNA:amplification:cds (human) PMID:1614537|REF_RGD_ID:2317412 12141521 MDM2 MDM2 proto-oncogene gene DOID:12336 male infertility ISO RGD:1313299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22773013 12141521 MDM2 MDM2 proto-oncogene gene DOID:13677 SAPHO syndrome ISO RGD:1313299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19779722 12141521 MDM2 MDM2 proto-oncogene gene DOID:14566 disease of cellular proliferation ISO RGD:1313299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Accelerated tumor formation, susceptibility to PMID:15550242|PMID:16258005|PMID:17003841|PMID:17360557|PMID:17576681|PMID:19521721|PMID:28492532|PMID:9536098 12141521 MDM2 MDM2 proto-oncogene gene DOID:14566 disease of cellular proliferation ISO RGD:1313299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Accelerated tumor formation, susceptibility to PMID:15550242|PMID:16199547|PMID:16258005|PMID:17003841|PMID:17360557|PMID:17576681|PMID:19521721|PMID:23653682|PMID:28492532|PMID:9536098 12141521 MDM2 MDM2 proto-oncogene gene DOID:1612 breast cancer ISO RGD:1305332 D RGD:9068941 20200609 RGD protein:increased expression:breast tumor (rat) PMID:15844214|REF_RGD_ID:2293626 12141521 MDM2 MDM2 proto-oncogene gene DOID:1697 ichthyosis ISO RGD:1313299 D RGD:9068941 20200609 RGD PMID:24005053|REF_RGD_ID:10412066 12141521 MDM2 MDM2 proto-oncogene gene DOID:1697 ichthyosis treatment ISO RGD:1305332 D RGD:9068941 20200609 RGD PMID:24005053|REF_RGD_ID:10412066 12141521 MDM2 MDM2 proto-oncogene gene DOID:1909 melanoma ISO RGD:1313299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17210701 12141521 MDM2 MDM2 proto-oncogene gene DOID:2055 post-traumatic stress disorder ISO RGD:1305332 D RGD:9068941 20200609 RGD PMID:23174211|REF_RGD_ID:10412309 12141521 MDM2 MDM2 proto-oncogene gene DOID:224 transient cerebral ischemia treatment ISO RGD:1305332 D RGD:9068941 20200609 RGD PMID:24334056|REF_RGD_ID:10412310 12141521 MDM2 MDM2 proto-oncogene gene DOID:3068 glioblastoma ISO RGD:1313299 D RGD:9068941 20200609 RGD DNA:amplication PMID:23796897|REF_RGD_ID:13702089 12141521 MDM2 MDM2 proto-oncogene gene DOID:3587 pancreatic ductal carcinoma onset ISO RGD:1313299 D RGD:9068941 20200609 RGD DNA:snp:promoter, intron:IVS1+309T>G (human) PMID:19752772|REF_RGD_ID:2317414 12141521 MDM2 MDM2 proto-oncogene gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:1313299 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:15810085|REF_RGD_ID:2317416 12141521 MDM2 MDM2 proto-oncogene gene DOID:3669 intermittent claudication treatment ISO RGD:1305332 D RGD:9068941 20200609 RGD PMID:23658678|REF_RGD_ID:9586024 12141521 MDM2 MDM2 proto-oncogene gene DOID:3908 lung non-small cell carcinoma ISO RGD:1313299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19941079|PMID:21268124 12141521 MDM2 MDM2 proto-oncogene gene DOID:409 liver disease onset ISO RGD:1305332 D RGD:9068941 20200609 RGD protein:increased expression:Enzyme altered focus (rat) PMID:14555611|REF_RGD_ID:2317409 12141521 MDM2 MDM2 proto-oncogene gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1313299 D RGD:9068941 20200609 RGD protein:increased expression:intrahepatic bile duct (human) PMID:15619210|REF_RGD_ID:2317417 12141521 MDM2 MDM2 proto-oncogene gene DOID:4989 pancreatitis ISO RGD:1305332 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (rat) PMID:19850968|REF_RGD_ID:2317361 12141521 MDM2 MDM2 proto-oncogene gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 12141521 MDM2 MDM2 proto-oncogene gene DOID:630 genetic disease ISO RGD:1313299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12141521 MDM2 MDM2 proto-oncogene gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1313299 D RGD:9068941 20200609 RGD DNA:transversion:promoter:g.-309T>G (human) PMID:20019189|REF_RGD_ID:2317357 12141521 MDM2 MDM2 proto-oncogene gene DOID:8552 chronic myeloid leukemia onset ISO RGD:1313299 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs2279744(human) PMID:23818300|REF_RGD_ID:13703044 12141521 MDM2 MDM2 proto-oncogene gene DOID:9000039 Spinal Cord Injuries ISO RGD:1305332 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:23595775|REF_RGD_ID:10412063 12141521 MDM2 MDM2 proto-oncogene gene DOID:9000217 Stomach Neoplasms ISO RGD:1313299 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:31945315 12141521 MDM2 MDM2 proto-oncogene gene DOID:9000998 Brain Injuries ISO RGD:1305332 D RGD:9068941 20200609 RGD protein:increased expression:brain cortex (rat) PMID:15165363|REF_RGD_ID:2317397 12141521 MDM2 MDM2 proto-oncogene gene DOID:9002231 Fetal Growth Retardation ISO RGD:1305332 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebrum (rat) PMID:15563574|REF_RGD_ID:2317395 12141521 MDM2 MDM2 proto-oncogene gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20875869 12141521 MDM2 MDM2 proto-oncogene gene DOID:9002395 Hypothermia ISO RGD:1305332 D RGD:9068941 20200609 RGD associated with Reperfusion Injury; protein:increased expression:hippocampus (rat) PMID:15777295|REF_RGD_ID:2317393 12141521 MDM2 MDM2 proto-oncogene gene DOID:9002644 Premature Aging ISO RGD:1313300 D RGD:9068941 20200609 RGD PMID:23766372|REF_RGD_ID:10412052 12141521 MDM2 MDM2 proto-oncogene gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia susceptibility ISO RGD:1313299 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA:SNP:cds:309T>G(rs2279744)(human) PMID:21706156|REF_RGD_ID:11073725 12141521 MDM2 MDM2 proto-oncogene gene DOID:9003292 Intracranial Subdural Hematoma treatment ISO RGD:1305332 D RGD:9068941 20230128 RGD PMID:34334113|REF_RGD_ID:155882538 12141521 MDM2 MDM2 proto-oncogene gene DOID:9004277 Lessel-Kubisch Syndrome ISO RGD:1313299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lessel-kubisch syndrome PMID:28846075 12141521 MDM2 MDM2 proto-oncogene gene DOID:9004277 Lessel-Kubisch Syndrome susceptibility ISO RGD:1313299 D RGD:7240710 20230505 OMIM 12141521 MDM2 MDM2 proto-oncogene gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:1313299 D RGD:9068941 20200609 RGD associated with Small Cell Lung Carcinoma;DNA:SNP::rs2279744(human) PMID:24732641|REF_RGD_ID:11073715 12141521 MDM2 MDM2 proto-oncogene gene DOID:9005396 Intimal Hyperplasia treatment ISO RGD:1313300 D RGD:9068941 20200609 RGD PMID:21498419|REF_RGD_ID:10412065 12141521 MDM2 MDM2 proto-oncogene gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1305332 D RGD:9068941 20200609 RGD protein:increased degradation:myocardium PMID:23530877|REF_RGD_ID:10412313 12141521 MDM2 MDM2 proto-oncogene gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1313299 D RGD:9068941 20230511 CTD CTD Direct Evidence: marker/mechanism PMID:15550242 12141521 MDM2 MDM2 proto-oncogene gene DOID:9007608 Neoplastic Cell Transformation susceptibility ISO RGD:1313299 D RGD:7240710 20230505 OMIM 12141521 MDM2 MDM2 proto-oncogene gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1305332 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:heart ventricle (rat) PMID:14644432|REF_RGD_ID:2317401 12141521 MDM2 MDM2 proto-oncogene gene DOID:9008939 Breast Neoplasms ISO RGD:1313299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26229107 12141521 MDM2 MDM2 proto-oncogene gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1313299 D RGD:9068941 20200609 RGD PMID:11064355|REF_RGD_ID:11251749 12141521 MDM2 MDM2 proto-oncogene gene DOID:9286 priapism ISO RGD:1305332 D RGD:9068941 20200609 RGD protein:increased expression:corpus cavernosum PMID:21085184|REF_RGD_ID:10412315 12141544 PRDX1 peroxiredoxin 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12141544 PRDX1 peroxiredoxin 1 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:733744 D RGD:7240710 20190315 OMIM 12141544 PRDX1 peroxiredoxin 1 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:733744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:25741868|PMID:28492532 12141544 PRDX1 peroxiredoxin 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 12141544 PRDX1 peroxiredoxin 1 gene DOID:0080600 COVID-19 ISO RGD:733744 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12141544 PRDX1 peroxiredoxin 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:733744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12141544 PRDX1 peroxiredoxin 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12141544 PRDX1 peroxiredoxin 1 gene DOID:10320 asbestosis ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22537621 12141544 PRDX1 peroxiredoxin 1 gene DOID:1395 schistosomiasis ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19041905 12141544 PRDX1 peroxiredoxin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12141544 PRDX1 peroxiredoxin 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 12141544 PRDX1 peroxiredoxin 1 gene DOID:630 genetic disease ISO RGD:733744 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12141544 PRDX1 peroxiredoxin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27517622 12141544 PRDX1 peroxiredoxin 1 gene DOID:9000058 Keloid ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12141544 PRDX1 peroxiredoxin 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 12141544 PRDX1 peroxiredoxin 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27517622 12141544 PRDX1 peroxiredoxin 1 gene DOID:9005172 Lung Neoplasms ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22537621 12141554 ATP6V1C2 ATPase H+ transporting V1 subunit C2 gene DOID:11372 megacolon ISO RGD:1354342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12141554 ATP6V1C2 ATPase H+ transporting V1 subunit C2 gene DOID:14219 renal tubular acidosis ISO RGD:1354342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:31959358 12141554 ATP6V1C2 ATPase H+ transporting V1 subunit C2 gene DOID:630 genetic disease ISO RGD:1354342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141554 ATP6V1C2 ATPase H+ transporting V1 subunit C2 gene DOID:9007406 Distal Renal Tubular Acidosis ISO RGD:1354342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:31959358 12141574 ABRACL ABRA C-terminal like gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1351168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12141574 ABRACL ABRA C-terminal like gene DOID:630 genetic disease ISO RGD:1351168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141582 NUDT5 nudix hydrolase 5 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1345366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12141582 NUDT5 nudix hydrolase 5 gene DOID:630 genetic disease ISO RGD:1345366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141599 QDPR quinoid dihydropteridine reductase gene DOID:0081130 BH4-deficient hyperphenylalaninemia C ISO RGD:734380 D RGD:7240710 20180130 OMIM 12141599 QDPR quinoid dihydropteridine reductase gene DOID:0081130 BH4-deficient hyperphenylalaninemia C ISO RGD:734380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dihydropteridine reductase deficiency | ClinVar Annotator: match by term: Quinoid dihydropteridine reductase deficiency PMID:10408783|PMID:11153907|PMID:11694255|PMID:16199547|PMID:17576681|PMID:19099731|PMID:2116088|PMID:21890392|PMID:23138986|PMID:24033266|PMID:25124972|PMID:25155776|PMID:25741868|PMID:26006720|PMID:26589311|PMID:27246466|PMID:28492532|PMID:30109838|PMID:30221392|PMID:32905092|PMID:33822819|PMID:33903016|PMID:7627180|PMID:8326489|PMID:8518287|PMID:9341885|PMID:9536098|PMID:9744478 12141599 QDPR quinoid dihydropteridine reductase gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:734380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:25741868 12141599 QDPR quinoid dihydropteridine reductase gene DOID:10763 hypertension ISO RGD:619915 D RGD:9068941 20200609 RGD protein:decreased expression:aorta smooth muscle (rat) PMID:19743417|REF_RGD_ID:5128580 12141599 QDPR quinoid dihydropteridine reductase gene DOID:1824 status epilepticus ISO RGD:619915 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:17366478|REF_RGD_ID:5128581 12141599 QDPR quinoid dihydropteridine reductase gene DOID:630 genetic disease ISO RGD:734380 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12141599 QDPR quinoid dihydropteridine reductase gene DOID:9004590 Acute Liver Failure ISO RGD:734380 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 12141599 QDPR quinoid dihydropteridine reductase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619915 D RGD:9068941 20200609 RGD protein:decreased activity:brain (rat) PMID:2758679|REF_RGD_ID:5128601 12141599 QDPR quinoid dihydropteridine reductase gene DOID:9008914 Lead Poisoning ISO RGD:619915 D RGD:9068941 20200609 RGD protein:increased activity:brain, caudate nucleus (rat) PMID:2359144|REF_RGD_ID:5128598 12141599 QDPR quinoid dihydropteridine reductase gene DOID:9281 phenylketonuria ISO RGD:734380 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Phenylketonuria type 2 PMID:25741868|PMID:28492532|PMID:8326489 12141610 DNAI3 dynein axonemal intermediate chain 3 gene DOID:630 genetic disease ISO RGD:1605003 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141610 DNAI3 dynein axonemal intermediate chain 3 gene DOID:9000983 Encephalocele ISO RGD:1605003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Occipital encephalocele PMID:29285825 12141645 IGSF1 immunoglobulin superfamily member 1 gene DOID:0050328 congenital hypothyroidism ISO RGD:1353839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143598 12141645 IGSF1 immunoglobulin superfamily member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12141645 IGSF1 immunoglobulin superfamily member 1 gene DOID:0070126 congenital nongoitrous hypothyroidism 1 ISO RGD:1353839 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 PMID:25741868|PMID:28492532 12141645 IGSF1 immunoglobulin superfamily member 1 gene DOID:0111140 IGSF1 deficiency syndrome ISO RGD:1353839 D RGD:7240710 20180130 OMIM 12141645 IGSF1 immunoglobulin superfamily member 1 gene DOID:0111140 IGSF1 deficiency syndrome ISO RGD:1353839 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement PMID:23143598|PMID:23966245|PMID:25741868|PMID:27310681|PMID:28492532|PMID:30086211 12141645 IGSF1 immunoglobulin superfamily member 1 gene DOID:12849 autistic disorder ISO RGD:1353839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12141645 IGSF1 immunoglobulin superfamily member 1 gene DOID:2519 testicular disease ISO RGD:1353839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143598 12141645 IGSF1 immunoglobulin superfamily member 1 gene DOID:630 genetic disease ISO RGD:1353839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12141645 IGSF1 immunoglobulin superfamily member 1 gene DOID:9000591 Congenital Nongoitrous Hypothyroidism ISO RGD:1353839 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: TSH RESISTANCE PMID:25741868|PMID:28492532 12141684 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1313282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 12141684 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:10488 imperforate anus ISO RGD:1313282 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Imperforate anus 12141684 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:10534 stomach cancer ISO RGD:1313282 D RGD:9068941 20220204 RGD mRNA:increased expression:stomach (human) PMID:26549737|REF_RGD_ID:11538454 12141684 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:2043 hepatitis B ISO RGD:1313282 D RGD:9068941 20220204 RGD associated with hepatocellular carcinoma;mRNA:increased expression:liver, blood serum (human) PMID:21196414|REF_RGD_ID:151347673 12141684 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1313282 D RGD:9068941 20220204 RGD protein:increased expression:lung (human) PMID:33510968|REF_RGD_ID:151347681 12141684 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1313282 D RGD:9068941 20220204 RGD human cell line in a mouse model PMID:28306189|REF_RGD_ID:151347678 12141684 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1313282 D RGD:9068941 20220204 RGD mRNA, protein:increased expression:lung (human) PMID:22824148|REF_RGD_ID:151347677 12141684 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:630 genetic disease ISO RGD:1313282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141684 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1313282 D RGD:9068941 20220204 RGD human cell line in a mouse model PMID:21196414|REF_RGD_ID:151347673 12141684 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1313282 D RGD:9068941 20220204 RGD human recombinant gene and cell line in a mouse model PMID:27010469|REF_RGD_ID:151347674 12141684 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1313282 D RGD:9068941 20220204 RGD human cell line in a mouse model PMID:31922225|REF_RGD_ID:151347839 12141684 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:9005172 Lung Neoplasms ISO RGD:1313282 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12141684 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:9256 colorectal cancer ISO RGD:1313282 D RGD:9068941 20220204 RGD mRNA:increased expression:colorectum (human) PMID:25602366|REF_RGD_ID:151347676 12141684 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:9256 colorectal cancer ISO RGD:1313282 D RGD:9068941 20220204 RGD mRNA:splicing variants:colorectum (human) PMID:29138007|REF_RGD_ID:151347675 12141684 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1313282 D RGD:9068941 20220204 RGD mRNA, protein:increased expression:colorectum, lymph node, blood serum (human) PMID:27882171|REF_RGD_ID:151347679 12141684 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1313282 D RGD:9068941 20220204 RGD protein:increased expression:colorectum (human) PMID:20077526|REF_RGD_ID:151347680 12141720 SLC20A2 solute carrier family 20 member 2 gene DOID:0060230 basal ganglia calcification ISO RGD:736588 D RGD:9068941 20220825 MouseDO OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 12141720 SLC20A2 solute carrier family 20 member 2 gene DOID:0090039 torsion dystonia 6 ISO RGD:733735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 12141720 SLC20A2 solute carrier family 20 member 2 gene DOID:0111959 immunodeficiency 15B ISO RGD:733735 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 12141720 SLC20A2 solute carrier family 20 member 2 gene DOID:182 calcinosis ISO RGD:733735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 12141720 SLC20A2 solute carrier family 20 member 2 gene DOID:630 genetic disease ISO RGD:733735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12141720 SLC20A2 solute carrier family 20 member 2 gene DOID:679 basal ganglia disease ISO RGD:733735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 12141720 SLC20A2 solute carrier family 20 member 2 gene DOID:8725 vascular dementia ISO RGD:733735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 12141720 SLC20A2 solute carrier family 20 member 2 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:733735 D RGD:7240710 20180130 OMIM 12141720 SLC20A2 solute carrier family 20 member 2 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:733735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:20301594|PMID:22327515|PMID:23334463|PMID:23437308|PMID:24209445|PMID:25178512|PMID:25284758|PMID:25741868|PMID:26475232|PMID:27726124|PMID:27943094|PMID:28391956|PMID:28477710|PMID:28492532|PMID:30609140|PMID:31618668|PMID:32705272|PMID:34732400 12141720 SLC20A2 solute carrier family 20 member 2 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:733735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 12141758 MALL mal, T cell differentiation protein like gene DOID:0050795 cone dystrophy ISO RGD:1342796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:28041643 12141758 MALL mal, T cell differentiation protein like gene DOID:0060041 autism spectrum disorder ISO RGD:1342796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:24807792|PMID:25255310 12141758 MALL mal, T cell differentiation protein like gene DOID:0110999 Joubert syndrome 4 ISO RGD:1342796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 4 PMID:25741868 12141758 MALL mal, T cell differentiation protein like gene DOID:0111112 nephronophthisis 1 ISO RGD:1342796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1 PMID:10839884|PMID:10980528 12141758 MALL mal, T cell differentiation protein like gene DOID:12712 nephronophthisis ISO RGD:1342796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:10620543|PMID:10839884|PMID:15138899|PMID:24746959|PMID:28492532|PMID:8852662 12141758 MALL mal, T cell differentiation protein like gene DOID:630 genetic disease ISO RGD:1342796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141771 PI4KB phosphatidylinositol 4-kinase beta gene DOID:0080422 Dravet syndrome ISO RGD:732673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 12141771 PI4KB phosphatidylinositol 4-kinase beta gene DOID:0080599 Coronavirus infectious disease ISO RGD:732673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253445 12141771 PI4KB phosphatidylinositol 4-kinase beta gene DOID:0111940 immunodeficiency 42 ISO RGD:732673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12141771 PI4KB phosphatidylinositol 4-kinase beta gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12141771 PI4KB phosphatidylinositol 4-kinase beta gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12141771 PI4KB phosphatidylinositol 4-kinase beta gene DOID:1540 parathyroid carcinoma ISO RGD:732673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12141771 PI4KB phosphatidylinositol 4-kinase beta gene DOID:2945 severe acute respiratory syndrome ISO RGD:732673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253445 12141771 PI4KB phosphatidylinositol 4-kinase beta gene DOID:5812 MHC class II deficiency ISO RGD:732673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12141771 PI4KB phosphatidylinositol 4-kinase beta gene DOID:630 genetic disease ISO RGD:732673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141771 PI4KB phosphatidylinositol 4-kinase beta gene DOID:9001761 Autosomal Dominant Nonsyndromic Deafness 87 ISO RGD:732673 D RGD:7240710 20230505 OMIM 12141771 PI4KB phosphatidylinositol 4-kinase beta gene DOID:9001761 Autosomal Dominant Nonsyndromic Deafness 87 ISO RGD:732673 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 87 PMID:33358777 12141771 PI4KB phosphatidylinositol 4-kinase beta gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12141793 OR10V1 olfactory receptor family 10 subfamily V member 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350461 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12141793 OR10V1 olfactory receptor family 10 subfamily V member 1 gene DOID:1059 intellectual disability ISO RGD:1350461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12141793 OR10V1 olfactory receptor family 10 subfamily V member 1 gene DOID:630 genetic disease ISO RGD:1350461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141796 CREB3L1 cAMP responsive element binding protein 3 like 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1342471 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 12141796 CREB3L1 cAMP responsive element binding protein 3 like 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1342471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12141796 CREB3L1 cAMP responsive element binding protein 3 like 1 gene DOID:0110345 osteogenesis imperfecta type 16 ISO RGD:1342471 D RGD:7240710 20190315 OMIM 12141796 CREB3L1 cAMP responsive element binding protein 3 like 1 gene DOID:0110345 osteogenesis imperfecta type 16 ISO RGD:1342471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 16 PMID:24033266|PMID:25741868|PMID:28492532|PMID:29936144|PMID:30657919 12141796 CREB3L1 cAMP responsive element binding protein 3 like 1 gene DOID:1059 intellectual disability ISO RGD:1342471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12141796 CREB3L1 cAMP responsive element binding protein 3 like 1 gene DOID:3307 teratoma ISO RGD:1342471 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Teratoma 12141796 CREB3L1 cAMP responsive element binding protein 3 like 1 gene DOID:630 genetic disease ISO RGD:1342471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12141796 CREB3L1 cAMP responsive element binding protein 3 like 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1342471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12141796 CREB3L1 cAMP responsive element binding protein 3 like 1 gene DOID:905 Zellweger syndrome ISO RGD:1342471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 12141812 CFAP20 cilia and flagella associated protein 20 gene DOID:0050572 cone-rod dystrophy ISO RGD:1605686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868|PMID:35246562 12141812 CFAP20 cilia and flagella associated protein 20 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605686 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12141812 CFAP20 cilia and flagella associated protein 20 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605686 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12141812 CFAP20 cilia and flagella associated protein 20 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12141812 CFAP20 cilia and flagella associated protein 20 gene DOID:630 genetic disease ISO RGD:1605686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141812 CFAP20 cilia and flagella associated protein 20 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1605686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12141822 DOK7 docking protein 7 gene DOID:0110668 congenital myasthenic syndrome 10 ISO RGD:1604958 D RGD:7240710 20180130 OMIM 12141822 DOK7 docking protein 7 gene DOID:0110668 congenital myasthenic syndrome 10 ISO RGD:1604958 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 10 PMID:10222457|PMID:1483054|PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:17576681|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:21520333|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:22884442|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25557462|PMID:25741868|PMID:25849006|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28024842|PMID:28492532|PMID:28716243|PMID:29054425|PMID:29118959|PMID:30266093|PMID:31618753|PMID:31880392|PMID:33146414|PMID:9536098 12141822 DOK7 docking protein 7 gene DOID:0111375 fetal akinesia deformation sequence syndrome ISO RGD:1604958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25557462|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425 12141822 DOK7 docking protein 7 gene DOID:0111376 fetal akinesia deformation sequence syndrome 3 ISO RGD:1604958 D RGD:7240710 20190501 OMIM 12141822 DOK7 docking protein 7 gene DOID:0111376 fetal akinesia deformation sequence syndrome 3 ISO RGD:1604958 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425|PMID:31880392 12141822 DOK7 docking protein 7 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1604958 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:10222457|PMID:1483054|PMID:16199547|PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:17576681|PMID:18161030|PMID:18165682|PMID:18414213|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20603078|PMID:20610155|PMID:21041412|PMID:21520333|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:22884442|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25557462|PMID:25625551|PMID:25741868|PMID:25849006|PMID:26436962|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28024842|PMID:28492532|PMID:28508085|PMID:28716243|PMID:29054425|PMID:29118959|PMID:29395675|PMID:30266093|PMID:31618753|PMID:31880392|PMID:32331917|PMID:33146414|PMID:9536098 12141822 DOK7 docking protein 7 gene DOID:1206 Rett syndrome ISO RGD:1604958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:16917026|PMID:18161030|PMID:18626973|PMID:21850686|PMID:22661499|PMID:25741868|PMID:28492532|PMID:31880392 12141822 DOK7 docking protein 7 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1604958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12141822 DOK7 docking protein 7 gene DOID:1856 cherubism ISO RGD:1604958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12141822 DOK7 docking protein 7 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1604958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenia, limb-girdle, familial PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:21520333|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25741868|PMID:25849006|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28492532|PMID:28716243|PMID:29118959|PMID:31880392 12141822 DOK7 docking protein 7 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1604958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenia, limb-girdle, familial PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25557462|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:28716243|PMID:29054425|PMID:29118959|PMID:30266093|PMID:31618753|PMID:31880392 12141822 DOK7 docking protein 7 gene DOID:630 genetic disease ISO RGD:1604958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:21520333|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425 12141832 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:0080471 developmental and epileptic encephalopathy 92 ISO RGD:735355 D RGD:7240710 20190315 OMIM 12141832 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:0080471 developmental and epileptic encephalopathy 92 ISO RGD:735355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood, 2 PMID:25124326|PMID:25741868|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:32533790|PMID:33325057 12141832 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:10283 prostate cancer ISO RGD:735355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:25741868|PMID:28492532 12141832 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:1059 intellectual disability ISO RGD:735355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: intellectual disabilities PMID:12140781|PMID:17576681|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:9536098 12141832 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:1059 intellectual disability ISO RGD:735355 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: intellectual disabilities PMID:12140781|PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31036916|PMID:31785789|PMID:9536098 12141832 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:1059 intellectual disability ISO RGD:735355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:12140781|PMID:17576681|PMID:23265383|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:30033060|PMID:31036916|PMID:31785789|PMID:32533790|PMID:33325057|PMID:9536098 12141832 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:1059 intellectual disability ISO RGD:735355 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:12140781|PMID:17576681|PMID:23265383|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:29758562|PMID:30033060|PMID:31036916|PMID:31785789|PMID:32533790|PMID:33325057|PMID:9536098 12141832 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:12849 autistic disorder ISO RGD:735355 D RGD:9068941 20200609 RGD DNA:SNP: :RS2617503, RS12187676 (human) PMID:16080114|REF_RGD_ID:6480256 12141832 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:13938 amenorrhea ISO RGD:735355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12141832 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:1826 epilepsy ISO RGD:735355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 12141832 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:735355 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:16718694|PMID:22190369|PMID:24811917|PMID:28492532 12141832 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:5419 schizophrenia ISO RGD:735355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 12141832 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:630 genetic disease ISO RGD:735355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12141832 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 12141832 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:735355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 12141849 RNF40 ring finger protein 40 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:732458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12141849 RNF40 ring finger protein 40 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:732458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 12141849 RNF40 ring finger protein 40 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:628638 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:21734099|REF_RGD_ID:9587431 12141849 RNF40 ring finger protein 40 gene DOID:630 genetic disease ISO RGD:732458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141873 ATXN7L2 ataxin 7 like 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1350736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12141873 ATXN7L2 ataxin 7 like 2 gene DOID:12849 autistic disorder ISO RGD:1350736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12141873 ATXN7L2 ataxin 7 like 2 gene DOID:630 genetic disease ISO RGD:1350736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141895 GPHN gephyrin gene DOID:0050572 cone-rod dystrophy ISO RGD:69477 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:15258582|PMID:16269441|PMID:20006610|PMID:22065924|PMID:23847139|PMID:24474277|PMID:25741868|PMID:27032803|PMID:28157192|PMID:28492532|PMID:30134391|PMID:32014858 12141895 GPHN gephyrin gene DOID:0050817 Stargardt disease ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:25741868 12141895 GPHN gephyrin gene DOID:0060318 acute promyelocytic leukemia ISO RGD:69477 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 12141895 GPHN gephyrin gene DOID:0060695 hyperekplexia ISO RGD:69477 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Kok disease PMID:12684523|PMID:25741868|PMID:28492532|PMID:29948376 12141895 GPHN gephyrin gene DOID:0060696 hyperekplexia 1 ISO RGD:69477 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperekplexia 1 PMID:12684523|PMID:25741868|PMID:28492532|PMID:29948376 12141895 GPHN gephyrin gene DOID:0070223 progressive familial intrahepatic cholestasis 3 ISO RGD:69477 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis PMID:17964524|PMID:22065924|PMID:25741868|PMID:28492532|PMID:32014858|PMID:34001834 12141895 GPHN gephyrin gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:69477 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: Retinitis pigmentosa 53 PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:21232531|PMID:21602930|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25412400|PMID:25494902|PMID:25561519|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26868535|PMID:27032803|PMID:27208204|PMID:27422788|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:2855908|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31630094|PMID:31814694|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:34448047|PMID:9536098 12141895 GPHN gephyrin gene DOID:0111164 molybdenum cofactor deficiency type A ISO RGD:69477 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A PMID:25741868|PMID:28492532 12141895 GPHN gephyrin gene DOID:0111166 molybdenum cofactor deficiency type C ISO RGD:69477 D RGD:7240710 20180130 OMIM 12141895 GPHN gephyrin gene DOID:0111166 molybdenum cofactor deficiency type C ISO RGD:69477 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group C PMID:11095995|PMID:12684523|PMID:12754701|PMID:16199547|PMID:17576681|PMID:22040219|PMID:23184456|PMID:23393157|PMID:24561070|PMID:25640679|PMID:25741868|PMID:26613940|PMID:27652284|PMID:28492532|PMID:29948376|PMID:31780880|PMID:33532714|PMID:9536098 12141895 GPHN gephyrin gene DOID:10283 prostate cancer ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12141895 GPHN gephyrin gene DOID:10584 retinitis pigmentosa ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:31054281|PMID:32014858 12141895 GPHN gephyrin gene DOID:10584 retinitis pigmentosa ISO RGD:69477 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30718709|PMID:30979730|PMID:31054281|PMID:32014858|PMID:34448047 12141895 GPHN gephyrin gene DOID:10584 retinitis pigmentosa ISO RGD:69477 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:34448047 12141895 GPHN gephyrin gene DOID:1242 globe disease ISO RGD:69477 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Globe disease PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:20301475|PMID:20683928|PMID:22065924|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532 12141895 GPHN gephyrin gene DOID:13366 Stiff-Person syndrome ISO RGD:69477 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stiff-person syndrome, congenital PMID:12684523|PMID:25741868|PMID:28492532|PMID:29948376 12141895 GPHN gephyrin gene DOID:14791 Leber congenital amaurosis ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:27032803|PMID:27208204|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30979730|PMID:31054281|PMID:31814694|PMID:32014858|PMID:32865313|PMID:9536098 12141895 GPHN gephyrin gene DOID:14791 Leber congenital amaurosis ISO RGD:69477 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:27032803|PMID:27208204|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31814694|PMID:32014858|PMID:32141364|PMID:32790509|PMID:32865313|PMID:34001834|PMID:34448047|PMID:9536098 12141895 GPHN gephyrin gene DOID:1574 alcohol use disorder ISO RGD:69477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 12141895 GPHN gephyrin gene DOID:1826 epilepsy ISO RGD:69477 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12141895 GPHN gephyrin gene DOID:1969 cerebral palsy ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:33073849 12141895 GPHN gephyrin gene DOID:4448 macular degeneration ISO RGD:69477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:16269441|PMID:17512964|PMID:19011012|PMID:21151602|PMID:22065924|PMID:23591405|PMID:25412400|PMID:25494902|PMID:25741868|PMID:28492532|PMID:30902645|PMID:30979730|PMID:32014858|PMID:32790509|PMID:34001834 12141895 GPHN gephyrin gene DOID:5419 schizophrenia ISO RGD:69477 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12141895 GPHN gephyrin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12141895 GPHN gephyrin gene DOID:630 genetic disease ISO RGD:69477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12684523|PMID:25741868|PMID:28492532|PMID:33156547|PMID:35445667 12141895 GPHN gephyrin gene DOID:655 inherited metabolic disorder ISO RGD:69477 D RGD:9068941 20200609 RGD molybdenum cofactor deficiency, complementation group B,OMIM: 252150 PMID:12754701|REF_RGD_ID:1558665 12141895 GPHN gephyrin gene DOID:8501 fundus dystrophy ISO RGD:69477 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19140180|PMID:20301475|PMID:20683928|PMID:20736127|PMID:22065924|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26497376|PMID:26667666|PMID:27032803|PMID:27208204|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31456290|PMID:32014858|PMID:32141364|PMID:34001834|PMID:34448047|PMID:9536098 12141895 GPHN gephyrin gene DOID:9000849 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinal dystrophy, juvenile cataracts, and short stature syndrome PMID:24916380|PMID:25741868|PMID:28492532 12141895 GPHN gephyrin gene DOID:9001325 Rett Syndrome, Atypical ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:25741868|PMID:33073849 12141895 GPHN gephyrin gene DOID:9003249 Glycosylphosphatidylinositol Biosynthesis Defect 17 ISO RGD:69477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 17 PMID:25741868|PMID:29573052|PMID:29603516|PMID:33156547|PMID:35445667 12141895 GPHN gephyrin gene DOID:9005632 Cocaine-Related Disorders ISO RGD:69477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 12141895 GPHN gephyrin gene DOID:9008296 Eye Abnormalities ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:20301475|PMID:20683928|PMID:22065924|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532 12141959 XPNPEP2 X-prolyl aminopeptidase 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:734376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12141959 XPNPEP2 X-prolyl aminopeptidase 2 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:734376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:22796527|PMID:24357419|PMID:28492532 12141959 XPNPEP2 X-prolyl aminopeptidase 2 gene DOID:0080941 acquired angioedema ISO RGD:734376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Susceptibility to angioedema induced by ACE inhibitors PMID:16175507|PMID:20625347|PMID:21898657 12141959 XPNPEP2 X-prolyl aminopeptidase 2 gene DOID:0080941 acquired angioedema susceptibility ISO RGD:734376 D RGD:7240710 20190502 OMIM 12141959 XPNPEP2 X-prolyl aminopeptidase 2 gene DOID:1056 oculocerebrorenal syndrome ISO RGD:734376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:22965764|PMID:28492532 12141959 XPNPEP2 X-prolyl aminopeptidase 2 gene DOID:12849 autistic disorder ISO RGD:734376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12141959 XPNPEP2 X-prolyl aminopeptidase 2 gene DOID:1558 angioedema ISO RGD:734376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16175507 12141959 XPNPEP2 X-prolyl aminopeptidase 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:734376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12141959 XPNPEP2 X-prolyl aminopeptidase 2 gene DOID:630 genetic disease ISO RGD:734376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12141959 XPNPEP2 X-prolyl aminopeptidase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12141984 MIP major intrinsic protein of lens fiber gene DOID:0060282 persistent hyperplastic primary vitreous ISO RGD:735323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous PMID:24120416|PMID:25741868|PMID:26694549|PMID:28492532|PMID:29770612 12141984 MIP major intrinsic protein of lens fiber gene DOID:0110251 cataract 15 multiple types ISO RGD:735323 D RGD:7240710 20180130 OMIM 12141984 MIP major intrinsic protein of lens fiber gene DOID:0110251 cataract 15 multiple types ISO RGD:735323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 15 multiple types PMID:10802646|PMID:10937580|PMID:16199547|PMID:16564824|PMID:17576681|PMID:18501347|PMID:20361015|PMID:21921980|PMID:24120416|PMID:24319327|PMID:24405844|PMID:25741868|PMID:25803033|PMID:26694549|PMID:27456987|PMID:28492532|PMID:29695758|PMID:29770612|PMID:3456204|PMID:9536098 12141984 MIP major intrinsic protein of lens fiber gene DOID:10629 microphthalmia ISO RGD:735323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia PMID:25741868 12141984 MIP major intrinsic protein of lens fiber gene DOID:630 genetic disease ISO RGD:735323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12141984 MIP major intrinsic protein of lens fiber gene DOID:83 cataract ISO RGD:735323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract PMID:24120416|PMID:25741868|PMID:26694549|PMID:28492532|PMID:29770612 12141984 MIP major intrinsic protein of lens fiber gene DOID:9650 pathologic nystagmus ISO RGD:735323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:25741868 12141996 FAM171A1 family with sequence similarity 171 member A1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1313160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12141996 FAM171A1 family with sequence similarity 171 member A1 gene DOID:630 genetic disease ISO RGD:1313160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142007 LORICRIN loricrin cornified envelope precursor protein gene DOID:0111664 ectodermal dysplasia 1 ISO RGD:1347914 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia PMID:25741868 12142007 LORICRIN loricrin cornified envelope precursor protein gene DOID:0111940 immunodeficiency 42 ISO RGD:1347914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12142007 LORICRIN loricrin cornified envelope precursor protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1347914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12142007 LORICRIN loricrin cornified envelope precursor protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1347914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12142007 LORICRIN loricrin cornified envelope precursor protein gene DOID:1540 parathyroid carcinoma ISO RGD:1347914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12142007 LORICRIN loricrin cornified envelope precursor protein gene DOID:1749 squamous cell carcinoma ISO RGD:1347914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 12142007 LORICRIN loricrin cornified envelope precursor protein gene DOID:5812 MHC class II deficiency ISO RGD:1347914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12142007 LORICRIN loricrin cornified envelope precursor protein gene DOID:630 genetic disease ISO RGD:1347914 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142007 LORICRIN loricrin cornified envelope precursor protein gene DOID:9001125 Vohwinkel Syndrome, Variant Form ISO RGD:1347914 D RGD:7240710 20180130 OMIM 12142007 LORICRIN loricrin cornified envelope precursor protein gene DOID:9001125 Vohwinkel Syndrome, Variant Form ISO RGD:1347914 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Loricrin keratoderma PMID:10798362|PMID:11038186|PMID:11121146|PMID:11703298|PMID:25741868|PMID:31595526|PMID:8673107|PMID:9326323|PMID:9326398 12142007 LORICRIN loricrin cornified envelope precursor protein gene DOID:9004464 Skin Neoplasms ISO RGD:1347914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 12142007 LORICRIN loricrin cornified envelope precursor protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12142013 SNX22 sorting nexin 22 gene DOID:0110349 osteogenesis imperfecta type 9 ISO RGD:1312835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 9 PMID:19781681|PMID:25741868|PMID:28492532|PMID:29620724 12142013 SNX22 sorting nexin 22 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1312835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12142013 SNX22 sorting nexin 22 gene DOID:12347 osteogenesis imperfecta ISO RGD:1312835 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:19781681|PMID:25741868|PMID:28492532 12142013 SNX22 sorting nexin 22 gene DOID:2717 Bloom syndrome ISO RGD:1312835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12142013 SNX22 sorting nexin 22 gene DOID:630 genetic disease ISO RGD:1312835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12142013 SNX22 sorting nexin 22 gene DOID:9256 colorectal cancer ISO RGD:1312835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12142028 H2BC14 H2B clustered histone 14 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1346575 D RGD:9068941 20211224 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12142028 H2BC14 H2B clustered histone 14 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346575 D RGD:9068941 20211224 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 12142033 PRADC1 protease associated domain containing 1 gene DOID:0050473 Alstrom syndrome ISO RGD:1352558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 12142033 PRADC1 protease associated domain containing 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1352558 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12142033 PRADC1 protease associated domain containing 1 gene DOID:543 dystonia ISO RGD:1352558 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12142033 PRADC1 protease associated domain containing 1 gene DOID:630 genetic disease ISO RGD:1352558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142033 PRADC1 protease associated domain containing 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1352558 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12142056 DEFB136 defensin beta 136 gene DOID:14004 thoracic aortic aneurysm ISO RGD:2307453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 12142056 DEFB136 defensin beta 136 gene DOID:630 genetic disease ISO RGD:2307453 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142056 DEFB136 defensin beta 136 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2307453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12142057 OR2A12 olfactory receptor family 2 subfamily A member 12 gene DOID:630 genetic disease ISO RGD:1346557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142060 FOXB1 forkhead box B1 gene DOID:2717 Bloom syndrome ISO RGD:1313112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12142060 FOXB1 forkhead box B1 gene DOID:630 genetic disease ISO RGD:1313112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142060 FOXB1 forkhead box B1 gene DOID:9256 colorectal cancer ISO RGD:1313112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12142068 TMEM221 transmembrane protein 221 gene DOID:630 genetic disease ISO RGD:2307389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142077 PRSS12 serine protease 12 gene DOID:0081177 autosomal recessive intellectual developmental disorder 1 ISO RGD:733403 D RGD:7240710 20180130 OMIM 12142077 PRSS12 serine protease 12 gene DOID:0081177 autosomal recessive intellectual developmental disorder 1 ISO RGD:733403 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 1 PMID:12459588|PMID:18414213|PMID:25741868|PMID:28492532 12142077 PRSS12 serine protease 12 gene DOID:1059 intellectual disability ISO RGD:733403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:18414213 12142077 PRSS12 serine protease 12 gene DOID:2843 long QT syndrome ISO RGD:733403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12142077 PRSS12 serine protease 12 gene DOID:630 genetic disease ISO RGD:733403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12142077 PRSS12 serine protease 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12142096 NUDT3 nudix hydrolase 3 gene DOID:0050553 JMP syndrome ISO RGD:1320933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12142096 NUDT3 nudix hydrolase 3 gene DOID:630 genetic disease ISO RGD:1320933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142105 SHBG sex hormone binding globulin gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:736172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12142105 SHBG sex hormone binding globulin gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:736172 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12142105 SHBG sex hormone binding globulin gene DOID:12177 common variable immunodeficiency ISO RGD:736172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12142105 SHBG sex hormone binding globulin gene DOID:12930 dilated cardiomyopathy ISO RGD:736172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25996886 12142105 SHBG sex hormone binding globulin gene DOID:1380 endometrial cancer ISO RGD:736172 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.D327N (human) PMID:17315164|REF_RGD_ID:1625245 12142105 SHBG sex hormone binding globulin gene DOID:1574 alcohol use disorder ISO RGD:736172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8590623 12142105 SHBG sex hormone binding globulin gene DOID:1790 malignant mesothelioma ISO RGD:736172 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 12142105 SHBG sex hormone binding globulin gene DOID:1875 impotence ISO RGD:736172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17961146 12142105 SHBG sex hormone binding globulin gene DOID:2729 dyskeratosis congenita ISO RGD:736172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12142105 SHBG sex hormone binding globulin gene DOID:3012 Li-Fraumeni syndrome ISO RGD:736172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12142105 SHBG sex hormone binding globulin gene DOID:630 genetic disease ISO RGD:736172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142105 SHBG sex hormone binding globulin gene DOID:9002304 Prostatic Neoplasms ISO RGD:736172 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism PMID:17220347 12142105 SHBG sex hormone binding globulin gene DOID:9006646 Metabolic Syndrome ISO RGD:736172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16968811|PMID:17992261 12142105 SHBG sex hormone binding globulin gene DOID:9006646 Metabolic Syndrome ISO RGD:736172 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17884445|REF_RGD_ID:2313785 12142105 SHBG sex hormone binding globulin gene DOID:9351 diabetes mellitus ISO RGD:736172 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18346991|REF_RGD_ID:2313784 12142105 SHBG sex hormone binding globulin gene DOID:9352 type 2 diabetes mellitus ISO RGD:736172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21982312 12142105 SHBG sex hormone binding globulin gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:736172 D RGD:9068941 20200609 RGD DNA, protein:SNPs, decreased expression:rs6257, rs6259, plasma (human) PMID:19657112|REF_RGD_ID:2313782 12142127 CIART circadian associated repressor of transcription gene DOID:0111940 immunodeficiency 42 ISO RGD:1347816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12142127 CIART circadian associated repressor of transcription gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1347816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12142127 CIART circadian associated repressor of transcription gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1347816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12142127 CIART circadian associated repressor of transcription gene DOID:1540 parathyroid carcinoma ISO RGD:1347816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12142127 CIART circadian associated repressor of transcription gene DOID:5812 MHC class II deficiency ISO RGD:1347816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12142127 CIART circadian associated repressor of transcription gene DOID:630 genetic disease ISO RGD:1347816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142127 CIART circadian associated repressor of transcription gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12142166 C20H3orf49 chromosome 20 C3orf49 homolog gene DOID:630 genetic disease ISO RGD:1602072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142179 IQCF6 IQ motif containing F6 gene DOID:630 genetic disease ISO RGD:2302686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142203 FHL5 four and a half LIM domains 5 gene DOID:630 genetic disease ISO RGD:1316022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142203 FHL5 four and a half LIM domains 5 gene DOID:6364 migraine ISO RGD:1316022 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23793025 12142219 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1349317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12142219 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1349317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12142219 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:1059 intellectual disability ISO RGD:1349317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28135719|PMID:28492532|PMID:29463886|PMID:30397230|PMID:31048695 12142219 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:12177 common variable immunodeficiency ISO RGD:1349317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12142219 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:12849 autistic disorder ISO RGD:1349317 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868 12142219 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1349317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12142219 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:1826 epilepsy ISO RGD:1349317 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12142219 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1349317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12142219 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1349317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12142219 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:4905 pancreatic carcinoma disease_progression ISO RGD:1311923 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:21472101|REF_RGD_ID:9587766 12142219 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:630 genetic disease ISO RGD:1349317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15988005|PMID:25741868|PMID:28135719|PMID:28492532|PMID:29463886|PMID:30397230|PMID:31048695|PMID:32483341|PMID:35346573|PMID:8871545|PMID:9688266 12142219 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:8541 Sezary's disease ISO RGD:1349317 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 12142219 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:9001540 Snijders Blok-Campeau Syndrome ISO RGD:1349317 D RGD:7240710 20190329 OMIM 12142219 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:9001540 Snijders Blok-Campeau Syndrome ISO RGD:1349317 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome PMID:25741868|PMID:28135719|PMID:28492532|PMID:29463886|PMID:30397230|PMID:31048695|PMID:32483341|PMID:35346573 12142219 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349317 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12142219 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30397230 12142219 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1349317 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12142219 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1349317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:30397230 12142219 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1349317 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:30397230 12142219 CHD3 chromodomain helicase DNA binding protein 3 gene DOID:9008582 Developmental Disease ISO RGD:1349317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12142304 WDR13 WD repeat domain 13 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12142304 WDR13 WD repeat domain 13 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12142304 WDR13 WD repeat domain 13 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12142304 WDR13 WD repeat domain 13 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12142304 WDR13 WD repeat domain 13 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12142304 WDR13 WD repeat domain 13 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347566 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12142304 WDR13 WD repeat domain 13 gene DOID:10485 esophageal atresia ISO RGD:1347566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12142304 WDR13 WD repeat domain 13 gene DOID:12849 autistic disorder ISO RGD:1347566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12142304 WDR13 WD repeat domain 13 gene DOID:630 genetic disease ISO RGD:1347566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142325 CLEC4F C-type lectin domain family 4 member F gene DOID:543 dystonia ISO RGD:1354444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12142325 CLEC4F C-type lectin domain family 4 member F gene DOID:630 genetic disease ISO RGD:1354444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142325 CLEC4F C-type lectin domain family 4 member F gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1354444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12142325 CLEC4F C-type lectin domain family 4 member F gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354444 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12142338 LRRC18 leucine rich repeat containing 18 gene DOID:11372 megacolon ISO RGD:1352045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12142338 LRRC18 leucine rich repeat containing 18 gene DOID:5419 schizophrenia ISO RGD:1352045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12142338 LRRC18 leucine rich repeat containing 18 gene DOID:630 genetic disease ISO RGD:1352045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142351 STARD10 StAR related lipid transfer domain containing 10 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1315225 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12142351 STARD10 StAR related lipid transfer domain containing 10 gene DOID:1059 intellectual disability ISO RGD:1315225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12142351 STARD10 StAR related lipid transfer domain containing 10 gene DOID:630 genetic disease ISO RGD:1315225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142351 STARD10 StAR related lipid transfer domain containing 10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12142365 PYCARD PYD and CARD domain containing gene DOID:0050685 small cell carcinoma ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778195 12142365 PYCARD PYD and CARD domain containing gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1602723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12142365 PYCARD PYD and CARD domain containing gene DOID:1749 squamous cell carcinoma ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778195 12142365 PYCARD PYD and CARD domain containing gene DOID:1790 malignant mesothelioma ISO RGD:1602723 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26935421 12142365 PYCARD PYD and CARD domain containing gene DOID:182 calcinosis ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12142365 PYCARD PYD and CARD domain containing gene DOID:299 adenocarcinoma ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778195 12142365 PYCARD PYD and CARD domain containing gene DOID:3908 lung non-small cell carcinoma ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778195 12142365 PYCARD PYD and CARD domain containing gene DOID:4079 heart valve disease ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12142365 PYCARD PYD and CARD domain containing gene DOID:4552 large cell carcinoma ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778195 12142365 PYCARD PYD and CARD domain containing gene DOID:557 kidney disease ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:22647887|PMID:24508291 12142365 PYCARD PYD and CARD domain containing gene DOID:630 genetic disease ISO RGD:1602723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142365 PYCARD PYD and CARD domain containing gene DOID:684 hepatocellular carcinoma ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17471463 12142365 PYCARD PYD and CARD domain containing gene DOID:9000217 Stomach Neoplasms ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12142365 PYCARD PYD and CARD domain containing gene DOID:9001542 Albuminuria ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22647887 12142365 PYCARD PYD and CARD domain containing gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12142365 PYCARD PYD and CARD domain containing gene DOID:9004657 Weight Gain ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24508291 12142365 PYCARD PYD and CARD domain containing gene DOID:9005172 Lung Neoplasms ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778195 12142365 PYCARD PYD and CARD domain containing gene DOID:9008443 Colorectal Neoplasms ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17986858 12142365 PYCARD PYD and CARD domain containing gene DOID:9279 hyperhomocysteinemia ISO RGD:1602723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22647887 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:0014667 disease of metabolism ISO RGD:69474 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:10600799|REF_RGD_ID:1581420 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:0014667 disease of metabolism susceptibility ISO RGD:69473 D RGD:9068941 20200609 RGD DNA:SNPs PMID:18692268|REF_RGD_ID:2308809 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:69473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:0050777 Joubert syndrome ISO RGD:69473 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:69473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis syndrome PMID:25087610 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:69473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23603006|PMID:24633463 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:69423 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:liver (rat) treatment with INT-767 PMID:30038487|REF_RGD_ID:15092090 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:69473 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 ISO RGD:69473 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome PMID:25741868|PMID:31790666|PMID:32497488|PMID:32902915|PMID:33253727 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:69423 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:12849 autistic disorder ISO RGD:69473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:557 kidney disease ISO RGD:69423 D RGD:9068941 20200609 RGD protein:altered localization:kidney PMID:15944339|REF_RGD_ID:1625196 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:630 genetic disease ISO RGD:69473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:69473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563831|PMID:21147110 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:783 end stage renal disease ISO RGD:69473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9000038 Urban Schosser Spohn Syndrome ISO RGD:69473 D RGD:7240710 20201111 OMIM 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9000038 Urban Schosser Spohn Syndrome ISO RGD:69473 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary mucoepithelial dysplasia PMID:25741868|PMID:31790666|PMID:32497488|PMID:32902915|PMID:33253727 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:69423 D RGD:9068941 20200609 RGD protein:altered localization:liver PMID:16741953|REF_RGD_ID:1581819 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69423 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:increased expression:kidney PMID:18613221|REF_RGD_ID:2308806 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69473 D RGD:9068941 20200609 RGD PMID:17961514|REF_RGD_ID:2308811 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69474 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17961514|REF_RGD_ID:2308811 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69474 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:kidney PMID:16936198|REF_RGD_ID:2308815 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69474 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:kidney PMID:16046298|REF_RGD_ID:1581418 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:69423 D RGD:9068941 20200609 RGD PMID:19017816|REF_RGD_ID:2308805 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9004587 Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2 ISO RGD:69473 D RGD:7240710 20200930 OMIM 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9004587 Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2 ISO RGD:69473 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IFAP syndrome 2 PMID:25741868|PMID:31790666|PMID:32497488|PMID:32902915|PMID:33253727 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69423 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:renal proximal tubule, epithelial cell PMID:19048273|REF_RGD_ID:2308804 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10900012|PMID:23090186 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9007692 Insulin Resistance ISO RGD:69423 D RGD:9068941 20200609 RGD associated with Fatty Liver;mRNA:increased expression:liver PMID:17241878|REF_RGD_ID:2308807 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9007692 Insulin Resistance ISO RGD:69473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22658938 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:69473 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP PMID:18692268|REF_RGD_ID:2308809 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69423 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:19357831|REF_RGD_ID:2308802 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69473 D RGD:9068941 20200609 RGD DNA:SNPs PMID:18692268|REF_RGD_ID:2308809 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9452 fatty liver disease ISO RGD:69473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24469900 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9455 lipid storage disease ISO RGD:69423 D RGD:9068941 20200609 RGD PMID:17524234|REF_RGD_ID:2308821 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9743 diabetic neuropathy ISO RGD:69423 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:19423844|REF_RGD_ID:2308808 12142397 SREBF1 sterol regulatory element binding transcription factor 1 gene DOID:9970 obesity ISO RGD:69473 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 12142427 UMOD uromodulin gene DOID:0060062 familial juvenile hyperuricemic nephropathy ISO RGD:737075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant tubulointerstitial kidney disease PMID:20172860|PMID:21868615|PMID:23748428|PMID:25741868|PMID:28492532|PMID:28781372|PMID:29204651|PMID:30773290|PMID:31068150|PMID:31509055|PMID:31822006|PMID:32274456|PMID:32450155|PMID:32926855 12142427 UMOD uromodulin gene DOID:10763 hypertension ISO RGD:737075 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 12142427 UMOD uromodulin gene DOID:10825 essential hypertension ISO RGD:737075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential hypertension 12142427 UMOD uromodulin gene DOID:557 kidney disease ISO RGD:737075 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:14531790|PMID:23988501|PMID:25741868|PMID:26467025|PMID:28492532 12142427 UMOD uromodulin gene DOID:630 genetic disease ISO RGD:737075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16883323|PMID:25741868|PMID:28492532 12142427 UMOD uromodulin gene DOID:784 chronic kidney disease ISO RGD:737075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 12142427 UMOD uromodulin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3940 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:10925066|REF_RGD_ID:2324705 12142427 UMOD uromodulin gene DOID:9007051 Autosomal Dominant Tubulointerstitial Kidney Disease 1 ISO RGD:737075 D RGD:7240710 20180130 OMIM 12142427 UMOD uromodulin gene DOID:9007051 Autosomal Dominant Tubulointerstitial Kidney Disease 1 ISO RGD:737075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glomerulocystic kidney disease with hyperuricemia and isosthenuria | ClinVar Annotator: match by term: Medullary cystic kidney disease 2 | ClinVar Annotator: match by term: Medullary cystic kidney disease 2, autosomal dominant | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 | ClinVar Annotator: match by term: UMOD-Associated Kidney Disease | ClinVar Annotator: match by term: Uromodulin-associated kidney disease PMID:10330352|PMID:12205338|PMID:12471200|PMID:12519891|PMID:12629136|PMID:12634862|PMID:14531790|PMID:14569098|PMID:14570709|PMID:15253706|PMID:15589826|PMID:16135773|PMID:16883323|PMID:17010121|PMID:17245395|PMID:19465746|PMID:20172860|PMID:20472742|PMID:21060763|PMID:21868615|PMID:22117067|PMID:22693617|PMID:23748428|PMID:23988501|PMID:24670410|PMID:24961278|PMID:25741868|PMID:26467025|PMID:27729211|PMID:27795632|PMID:28166811|PMID:28492532|PMID:28781372|PMID:28990932|PMID:29204651|PMID:29212948|PMID:30099615|PMID:30376835|PMID:30773290|PMID:31068150|PMID:31509055|PMID:31822006|PMID:32274456|PMID:32450155|PMID:32926855|PMID:32954071|PMID:33532864|PMID:33574344|PMID:34519781|PMID:7396593 12142442 ALAD aminolevulinate dehydratase gene DOID:0060041 autism spectrum disorder ISO RGD:736545 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12142442 ALAD aminolevulinate dehydratase gene DOID:10763 hypertension ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20123609 12142442 ALAD aminolevulinate dehydratase gene DOID:10763 hypertension no_association ISO RGD:736545 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:11335187|REF_RGD_ID:1601156 12142442 ALAD aminolevulinate dehydratase gene DOID:10923 sickle cell anemia ISO RGD:736545 D RGD:9068941 20200609 RGD protein:increased activity:erythrocyte PMID:900140|REF_RGD_ID:12904674 12142442 ALAD aminolevulinate dehydratase gene DOID:11394 adult respiratory distress syndrome ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12142442 ALAD aminolevulinate dehydratase gene DOID:11832 visual epilepsy ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:brain, liver (rat) PMID:17320826|REF_RGD_ID:4144168 12142442 ALAD aminolevulinate dehydratase gene DOID:1459 hypothyroidism ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:blood (rat) PMID:17720948|REF_RGD_ID:4144163 12142442 ALAD aminolevulinate dehydratase gene DOID:1824 status epilepticus ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:hippocampus, frontal cortex (rat) PMID:20026167|REF_RGD_ID:4144137 12142442 ALAD aminolevulinate dehydratase gene DOID:2352 hemochromatosis treatment ISO RGD:2083 D RGD:9068941 20200609 RGD PMID:3679087|REF_RGD_ID:12904688 12142442 ALAD aminolevulinate dehydratase gene DOID:2355 anemia ISO RGD:2083 D RGD:9068941 20200609 RGD associated with Trypanosomiasis;protein:increased activity:erythrocyte PMID:21854703|REF_RGD_ID:12904694 12142442 ALAD aminolevulinate dehydratase gene DOID:3021 acute kidney failure ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:kidney (rat) PMID:19484701|REF_RGD_ID:4144146 12142442 ALAD aminolevulinate dehydratase gene DOID:3132 porphyria cutanea tarda ISO RGD:736545 D RGD:9068941 20200609 RGD protein:decreased activity:blood, erythrocyte PMID:8100994|REF_RGD_ID:12904682 12142442 ALAD aminolevulinate dehydratase gene DOID:3132 porphyria cutanea tarda treatment ISO RGD:736545 D RGD:9068941 20200609 RGD PMID:526041|REF_RGD_ID:12904671 12142442 ALAD aminolevulinate dehydratase gene DOID:3565 meningioma ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16140629 12142442 ALAD aminolevulinate dehydratase gene DOID:409 liver disease ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24631795 12142442 ALAD aminolevulinate dehydratase gene DOID:4450 renal cell carcinoma ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21799727 12142442 ALAD aminolevulinate dehydratase gene DOID:5082 liver cirrhosis ISO RGD:10133 D RGD:9068941 20200609 RGD protein:decreased activity:liver (human) PMID:6848403|REF_RGD_ID:15042852 12142442 ALAD aminolevulinate dehydratase gene DOID:5082 liver cirrhosis ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:liver (human) PMID:6848403|REF_RGD_ID:15042852 12142442 ALAD aminolevulinate dehydratase gene DOID:5082 liver cirrhosis ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12142442 ALAD aminolevulinate dehydratase gene DOID:5082 liver cirrhosis ISO RGD:736545 D RGD:9068941 20200609 RGD protein:decreased activity:liver (human) PMID:6848403|REF_RGD_ID:15042852 12142442 ALAD aminolevulinate dehydratase gene DOID:557 kidney disease ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23792432|PMID:24631795 12142442 ALAD aminolevulinate dehydratase gene DOID:630 genetic disease ISO RGD:736545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12142442 ALAD aminolevulinate dehydratase gene DOID:74 hematopoietic system disease ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24631795 12142442 ALAD aminolevulinate dehydratase gene DOID:8955 sideroblastic anemia ISO RGD:10133 D RGD:9068941 20200609 RGD protein:decreased activity:kidney, liver, spleen PMID:5891055|REF_RGD_ID:12904678 12142442 ALAD aminolevulinate dehydratase gene DOID:9000304 Manganese Poisoning ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:striatum (rat) PMID:18778733|REF_RGD_ID:4144152 12142442 ALAD aminolevulinate dehydratase gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20123609 12142442 ALAD aminolevulinate dehydratase gene DOID:9002304 Prostatic Neoplasms ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24500903 12142442 ALAD aminolevulinate dehydratase gene DOID:9005584 Hepatic Porphyrias ISO RGD:2083 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:6721832|REF_RGD_ID:4144806 12142442 ALAD aminolevulinate dehydratase gene DOID:9005584 Hepatic Porphyrias ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1905639|PMID:3684400 12142442 ALAD aminolevulinate dehydratase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10133 D RGD:9068941 20200609 RGD protein:decreased activity:blood, liver PMID:7728901|REF_RGD_ID:12904683 12142442 ALAD aminolevulinate dehydratase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:liver, kidney (rat) PMID:19043199|REF_RGD_ID:4144150 12142442 ALAD aminolevulinate dehydratase gene DOID:9005643 Experimental Diabetes Mellitus susceptibility ISO RGD:10133 D RGD:9068941 20200609 RGD protein:decreased activity:liver, erythrocyte (rat) PMID:10224671|REF_RGD_ID:15039405 12142442 ALAD aminolevulinate dehydratase gene DOID:9005643 Experimental Diabetes Mellitus susceptibility ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:liver, erythrocyte (rat) PMID:10224671|REF_RGD_ID:15039405 12142442 ALAD aminolevulinate dehydratase gene DOID:9005643 Experimental Diabetes Mellitus susceptibility ISO RGD:736545 D RGD:9068941 20200609 RGD protein:decreased activity:liver, erythrocyte (rat) PMID:10224671|REF_RGD_ID:15039405 12142442 ALAD aminolevulinate dehydratase gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2083 D RGD:9068941 20200609 RGD PMID:18668330|PMID:21864646|PMID:24947461|REF_RGD_ID:12904692|REF_RGD_ID:12904702|REF_RGD_ID:12904704 12142442 ALAD aminolevulinate dehydratase gene DOID:9006617 Fatigue ISO RGD:2083 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver (rat) PMID:17204241|REF_RGD_ID:1599013 12142442 ALAD aminolevulinate dehydratase gene DOID:9006693 ALAD-Deficiency Porphyria ISO RGD:736545 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Porphobilinogen synthase deficiency | ClinVar Annotator: match by term: Porphyria, acute hepatic, digenic PMID:10519994|PMID:11071662|PMID:11342419|PMID:15303011|PMID:1569184|PMID:16398658|PMID:1716854|PMID:17236137|PMID:17576681|PMID:19015748|PMID:1905639|PMID:2063868|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33199206|PMID:3684400|PMID:513604|PMID:9536098 12142442 ALAD aminolevulinate dehydratase gene DOID:9006693 ALAD-Deficiency Porphyria susceptibility ISO RGD:736545 D RGD:7240710 20230505 OMIM 12142442 ALAD aminolevulinate dehydratase gene DOID:9007159 Nervous System Lead Poisoning ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21439310 12142442 ALAD aminolevulinate dehydratase gene DOID:9007964 Arsenic Poisoning ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:blood (rat) PMID:19022878|REF_RGD_ID:4144202 12142442 ALAD aminolevulinate dehydratase gene DOID:9008914 Lead Poisoning ISO RGD:2083 D RGD:9068941 20200609 RGD PMID:16597373|REF_RGD_ID:1599014 12142442 ALAD aminolevulinate dehydratase gene DOID:9008914 Lead Poisoning ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:blood (rat) PMID:19647414|REF_RGD_ID:4144142 12142442 ALAD aminolevulinate dehydratase gene DOID:9008914 Lead Poisoning ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21396434|PMID:23792432|PMID:24631795 12142458 MPEG1 macrophage expressed 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:736355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12142458 MPEG1 macrophage expressed 1 gene DOID:0111152 multicentric Castleman disease ISO RGD:736355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TAFRO syndrome 12142458 MPEG1 macrophage expressed 1 gene DOID:0111954 immunodeficiency 60 ISO RGD:736355 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 60 PMID:25741868 12142458 MPEG1 macrophage expressed 1 gene DOID:1059 intellectual disability ISO RGD:736355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12142458 MPEG1 macrophage expressed 1 gene DOID:630 genetic disease ISO RGD:736355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142458 MPEG1 macrophage expressed 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 12142458 MPEG1 macrophage expressed 1 gene DOID:9001958 Immunodeficiency 77 ISO RGD:736355 D RGD:7240710 20210324 OMIM 12142458 MPEG1 macrophage expressed 1 gene DOID:9001958 Immunodeficiency 77 ISO RGD:736355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 77 PMID:25741868|PMID:28422754|PMID:33224153 12142463 KPNA3 karyopherin subunit alpha 3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1322742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12142463 KPNA3 karyopherin subunit alpha 3 gene DOID:1059 intellectual disability ISO RGD:1322742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12142463 KPNA3 karyopherin subunit alpha 3 gene DOID:630 genetic disease ISO RGD:1322742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142463 KPNA3 karyopherin subunit alpha 3 gene DOID:9008849 Spastic Paraplegia 88, Autosomal Dominant ISO RGD:1322742 D RGD:7240710 20221123 OMIM 12142463 KPNA3 karyopherin subunit alpha 3 gene DOID:9008849 Spastic Paraplegia 88, Autosomal Dominant ISO RGD:1322742 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 88, autosomal dominant PMID:34564892|PMID:34825409|PMID:34981581 12142484 ASPM assembly factor for spindle microtubules gene DOID:0050453 lissencephaly ISO RGD:1316111 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:19028728|PMID:23611254|PMID:25741868|PMID:28492532 12142484 ASPM assembly factor for spindle microtubules gene DOID:0070280 primary autosomal recessive microcephaly 5 ISO RGD:1316111 D RGD:7240710 20180130 OMIM 12142484 ASPM assembly factor for spindle microtubules gene DOID:0070280 primary autosomal recessive microcephaly 5 ISO RGD:1316111 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive PMID:11067780|PMID:12355089|PMID:14574646|PMID:15355437|PMID:16141009|PMID:16199547|PMID:16673149|PMID:17576681|PMID:17849285|PMID:18414213|PMID:18452193|PMID:19028728|PMID:19332161|PMID:19353628|PMID:19770472|PMID:20301772|PMID:20679666|PMID:20978018|PMID:22823409|PMID:22989186|PMID:23611254|PMID:24033266|PMID:25480035|PMID:25525159|PMID:25741868|PMID:25786579|PMID:26467025|PMID:26548919|PMID:26691732|PMID:26846091|PMID:27250695|PMID:28004384|PMID:28492532|PMID:28554332|PMID:29243349|PMID:29522511|PMID:29644084|PMID:29706646|PMID:30167849|PMID:30842647|PMID:31680123|PMID:31696992|PMID:31853109|PMID:31934343|PMID:31980526|PMID:32404165|PMID:32677750|PMID:33255631|PMID:34402213|PMID:9536098 12142484 ASPM assembly factor for spindle microtubules gene DOID:0070285 primary autosomal recessive microcephaly 1 ISO RGD:1316111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:18414213|PMID:19028728|PMID:19332161|PMID:19770472|PMID:20301772|PMID:23611254|PMID:25741868|PMID:26548919|PMID:26691732|PMID:26846091|PMID:28492532|PMID:29243349|PMID:29644084|PMID:31853109|PMID:32677750|PMID:33255631|PMID:34402213 12142484 ASPM assembly factor for spindle microtubules gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:1316111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary microcephaly PMID:15355437|PMID:16199547|PMID:18414213|PMID:19028728|PMID:20301772|PMID:20679666|PMID:22823409|PMID:23611254|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30842647|PMID:31980526 12142484 ASPM assembly factor for spindle microtubules gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1316111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12142484 ASPM assembly factor for spindle microtubules gene DOID:0080600 COVID-19 ISO RGD:1316111 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12142484 ASPM assembly factor for spindle microtubules gene DOID:0110358 retinitis pigmentosa 12 ISO RGD:1316111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:10508521|PMID:17964524|PMID:22065545|PMID:23379534|PMID:25412400|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521 12142484 ASPM assembly factor for spindle microtubules gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1316111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12142484 ASPM assembly factor for spindle microtubules gene DOID:10534 stomach cancer ISO RGD:1316111 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:stomach: PMID:26178168|REF_RGD_ID:13439749 12142484 ASPM assembly factor for spindle microtubules gene DOID:1059 intellectual disability ISO RGD:1316111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:12355089|PMID:18414213|PMID:19770472|PMID:23611254|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30167849 12142484 ASPM assembly factor for spindle microtubules gene DOID:1059 intellectual disability ISO RGD:1316111 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:12355089|PMID:18414213|PMID:19770472|PMID:20301772|PMID:23611254|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30167849 12142484 ASPM assembly factor for spindle microtubules gene DOID:10907 microcephaly ISO RGD:1316111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive PMID:19028728|PMID:20301772|PMID:20679666|PMID:22823409|PMID:23611254|PMID:25741868|PMID:26539891|PMID:28492532|PMID:30842647 12142484 ASPM assembly factor for spindle microtubules gene DOID:10907 microcephaly susceptibility ISO RGD:1316111 D RGD:9068941 20200609 RGD PMID:16141009|REF_RGD_ID:1599300 12142484 ASPM assembly factor for spindle microtubules gene DOID:10907 microcephaly treatment ISO RGD:1316111 D RGD:9068941 20200609 RGD PMID:20823249|REF_RGD_ID:13439744 12142484 ASPM assembly factor for spindle microtubules gene DOID:11612 polycystic ovary syndrome ISO RGD:1316111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12142484 ASPM assembly factor for spindle microtubules gene DOID:11832 visual epilepsy susceptibility ISO RGD:1316111 D RGD:9068941 20200609 RGD PMID:16141009|REF_RGD_ID:1599300 12142484 ASPM assembly factor for spindle microtubules gene DOID:14687 diastrophic dysplasia ISO RGD:1316111 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diastrophic dysplasia PMID:25741868 12142484 ASPM assembly factor for spindle microtubules gene DOID:1540 parathyroid carcinoma ISO RGD:1316111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12142484 ASPM assembly factor for spindle microtubules gene DOID:2152 ovary epithelial cancer ISO RGD:1316111 D RGD:9068941 20200609 RGD protein:altered expression:ovary, cytoplasm PMID:24830737|REF_RGD_ID:13204746 12142484 ASPM assembly factor for spindle microtubules gene DOID:3068 glioblastoma ISO RGD:1316111 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:18636190|REF_RGD_ID:13439742 12142484 ASPM assembly factor for spindle microtubules gene DOID:3070 high grade glioma disease_progression ISO RGD:1316111 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:20142996|REF_RGD_ID:13442488 12142484 ASPM assembly factor for spindle microtubules gene DOID:630 genetic disease ISO RGD:1316111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14574646|PMID:17576681|PMID:18414213|PMID:19028728|PMID:19332161|PMID:19770472|PMID:20301772|PMID:23611254|PMID:25741868|PMID:25786579|PMID:26467025|PMID:26548919|PMID:26691732|PMID:26846091|PMID:27250695|PMID:28492532|PMID:29243349|PMID:29644084|PMID:31853109|PMID:32677750|PMID:33255631|PMID:34402213|PMID:9536098 12142484 ASPM assembly factor for spindle microtubules gene DOID:684 hepatocellular carcinoma ISO RGD:1316111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12142484 ASPM assembly factor for spindle microtubules gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1316111 D RGD:9068941 20200609 RGD PMID:18676753|REF_RGD_ID:13439743 12142484 ASPM assembly factor for spindle microtubules gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1316111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12142484 ASPM assembly factor for spindle microtubules gene DOID:9006534 Nervous System Malformations ISO RGD:1316111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12142484 ASPM assembly factor for spindle microtubules gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12142521 CASC3 CASC3 exon junction complex subunit gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1353876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 12142521 CASC3 CASC3 exon junction complex subunit gene DOID:630 genetic disease ISO RGD:1353876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142539 MYH9 myosin heavy chain 9 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:732401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12142539 MYH9 myosin heavy chain 9 gene DOID:0050567 orofacial cleft ISO RGD:732401 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :rs7078 (human) PMID:19320731|REF_RGD_ID:12798512 12142539 MYH9 myosin heavy chain 9 gene DOID:0050567 orofacial cleft ISO RGD:732401 D RGD:9068941 20200609 RGD DNA:SNPs PMID:18716610|REF_RGD_ID:12798509 12142539 MYH9 myosin heavy chain 9 gene DOID:0050567 orofacial cleft ISO RGD:732401 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2269529, rs3752462, rs16996652 (human) PMID:19891592|REF_RGD_ID:12798511 12142539 MYH9 myosin heavy chain 9 gene DOID:0050567 orofacial cleft ISO RGD:732401 D RGD:9068941 20200609 RGD DNA:SNPs: :rs3752462, rs2009930 (human) PMID:17337617|REF_RGD_ID:12798514 12142539 MYH9 myosin heavy chain 9 gene DOID:0050758 metabolic acidosis ISO RGD:3140 D RGD:9068941 20200609 RGD protein:increased expression:brush border membrane PMID:22357915|REF_RGD_ID:7243154 12142539 MYH9 myosin heavy chain 9 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:732401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12142539 MYH9 myosin heavy chain 9 gene DOID:0050938 breast lobular carcinoma ISO RGD:732401 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 12142539 MYH9 myosin heavy chain 9 gene DOID:0060651 MYH-9 related disease IAGP D RGD:12801476 20210603 OMIA May-Hegglin anomaly PMID:21554370 12142539 MYH9 myosin heavy chain 9 gene DOID:0060651 MYH-9 related disease ISO RGD:732401 D RGD:7240710 20180130 OMIM 12142539 MYH9 myosin heavy chain 9 gene DOID:0060651 MYH-9 related disease ISO RGD:732401 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MYH9-related disorder | ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | ClinVar Annotator: match by term: Sebastian platelet syndrome PMID:10603121|PMID:10739770|PMID:10973259|PMID:10973260|PMID:11023810|PMID:11093280|PMID:11159552|PMID:11590545|PMID:11752022|PMID:11776386|PMID:11935325|PMID:12237319|PMID:12533692|PMID:12621333|PMID:12649151|PMID:12792306|PMID:1449176|PMID:15339844|PMID:15613099|PMID:15667538|PMID:16098078|PMID:16162639|PMID:16818291|PMID:16969870|PMID:16978745|PMID:17146397|PMID:17576681|PMID:17655694|PMID:18059020|PMID:18330899|PMID:18676005|PMID:19450438|PMID:19557653|PMID:19967157|PMID:20002731|PMID:20301740|PMID:20416459|PMID:20588287|PMID:21542825|PMID:22123909|PMID:22477015|PMID:22627578|PMID:22995991|PMID:23123319|PMID:23144074|PMID:23207509|PMID:23349334|PMID:23409987|PMID:23804846|PMID:24033266|PMID:24123792|PMID:24130771|PMID:24186861|PMID:24643058|PMID:24875298|PMID:24890873|PMID:25077172|PMID:25505834|PMID:25741868|PMID:25752595|PMID:25949529|PMID:26056797|PMID:26226608|PMID:26346198|PMID:26387855|PMID:26467025|PMID:26969326|PMID:27068579|PMID:27610647|PMID:28059092|PMID:28492532|PMID:28983057|PMID:29090586|PMID:29532554|PMID:29679756|PMID:29782633|PMID:30311386|PMID:30471777|PMID:30720677|PMID:30916803|PMID:31064749|PMID:31308072|PMID:31555371|PMID:31562665|PMID:31937884|PMID:31977897|PMID:32100410|PMID:32545517|PMID:32604935|PMID:32746448|PMID:33004838|PMID:33532864|PMID:34355501|PMID:5011389|PMID:8280620|PMID:9390828|PMID:9536098 12142539 MYH9 myosin heavy chain 9 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:732401 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12142539 MYH9 myosin heavy chain 9 gene DOID:0110032 autosomal dominant Alport syndrome ISO RGD:732401 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:4270G>C,D1424H (human) PMID:12500226|REF_RGD_ID:6902925 12142539 MYH9 myosin heavy chain 9 gene DOID:0110548 autosomal dominant nonsyndromic deafness 17 ISO RGD:732401 D RGD:7240710 20180130 OMIM 12142539 MYH9 myosin heavy chain 9 gene DOID:0110548 autosomal dominant nonsyndromic deafness 17 ISO RGD:732401 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration PMID:10603121|PMID:10973259|PMID:10973260|PMID:11023810|PMID:11159552|PMID:11590545|PMID:11752022|PMID:11776386|PMID:11935325|PMID:12533692|PMID:12621333|PMID:12649151|PMID:12792306|PMID:1449176|PMID:15339844|PMID:16098078|PMID:16162639|PMID:16818291|PMID:16969870|PMID:17146397|PMID:17655694|PMID:18059020|PMID:18330899|PMID:18676005|PMID:19557653|PMID:20002731|PMID:20301740|PMID:20416459|PMID:20588287|PMID:21542825|PMID:22123909|PMID:22477015|PMID:22627578|PMID:22995991|PMID:23144074|PMID:23207509|PMID:23349334|PMID:23409987|PMID:23804846|PMID:24033266|PMID:24130771|PMID:24186861|PMID:24643058|PMID:24890873|PMID:25077172|PMID:25505834|PMID:25741868|PMID:25752595|PMID:25949529|PMID:26056797|PMID:26226608|PMID:26346198|PMID:26387855|PMID:26467025|PMID:26969326|PMID:27068579|PMID:28059092|PMID:28492532|PMID:29090586|PMID:29532554|PMID:29782633|PMID:30311386|PMID:30471777|PMID:30720677|PMID:30916803|PMID:31064749|PMID:32100410|PMID:32545517|PMID:32604935|PMID:33532864|PMID:34355501|PMID:5011389|PMID:8280620|PMID:9390828 12142539 MYH9 myosin heavy chain 9 gene DOID:0110754 type 1 diabetes mellitus 17 ISO RGD:732401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 17 PMID:25741868 12142539 MYH9 myosin heavy chain 9 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:732401 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:19557653|PMID:23144074|PMID:24033266|PMID:25741868|PMID:26346198|PMID:26467025|PMID:26969326|PMID:27068579|PMID:28492532 12142539 MYH9 myosin heavy chain 9 gene DOID:10003 sensorineural hearing loss disease_progression ISO RGD:732401 D RGD:9068941 20200609 RGD associated with MYH9-Related Disorders;DNA:mutations:cds: PMID:26226608|REF_RGD_ID:11533922 12142539 MYH9 myosin heavy chain 9 gene DOID:1073 renal hypertension ISO RGD:732401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18794856 12142539 MYH9 myosin heavy chain 9 gene DOID:10983 Alport syndrome ISO RGD:732401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10973259 12142539 MYH9 myosin heavy chain 9 gene DOID:1184 nephrotic syndrome ISO RGD:732401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12142539 MYH9 myosin heavy chain 9 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:732401 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:19557653|PMID:23144074|PMID:24033266|PMID:25741868|PMID:26346198|PMID:26467025|PMID:26969326|PMID:27068579|PMID:28492532 12142539 MYH9 myosin heavy chain 9 gene DOID:1588 thrombocytopenia ISO RGD:732401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10973259|PMID:11159552|PMID:11590545|PMID:11776386|PMID:12533692|PMID:12621333|PMID:12649151|PMID:12792306|PMID:1449176|PMID:15339844|PMID:16098078|PMID:16162639|PMID:17655694|PMID:18059020|PMID:21542825|PMID:22627578|PMID:23207509|PMID:24186861|PMID:25741868|PMID:26056797|PMID:28492532|PMID:29090586|PMID:30916803|PMID:31064749|PMID:32100410|PMID:32545517|PMID:34355501 12142539 MYH9 myosin heavy chain 9 gene DOID:2213 hemorrhagic disease ISO RGD:732401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10739770|PMID:10973259|PMID:10973260|PMID:11159552|PMID:11590545|PMID:11776386|PMID:12533692|PMID:15339844|PMID:16098078|PMID:16162639|PMID:17655694|PMID:18059020|PMID:20301740|PMID:21542825|PMID:22627578|PMID:23207509|PMID:24186861|PMID:25741868|PMID:26056797|PMID:28492532|PMID:29090586|PMID:30916803|PMID:32100410|PMID:32545517 12142539 MYH9 myosin heavy chain 9 gene DOID:2921 glomerulonephritis ISO RGD:732401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glomerulonephritis PMID:25741868 12142539 MYH9 myosin heavy chain 9 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732402 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus PMID:22313957|REF_RGD_ID:6903274 12142539 MYH9 myosin heavy chain 9 gene DOID:557 kidney disease ISO RGD:732401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:17576681|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 12142539 MYH9 myosin heavy chain 9 gene DOID:576 proteinuria ISO RGD:732401 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:25741868 12142539 MYH9 myosin heavy chain 9 gene DOID:576 proteinuria disease_progression ISO RGD:732401 D RGD:9068941 20200609 RGD associated with Epstein syndrome, Fechtner syndrome;DNA:missense mutation:exon:p.R702H, R702C(human) PMID:20200500|REF_RGD_ID:6903242 12142539 MYH9 myosin heavy chain 9 gene DOID:630 genetic disease ISO RGD:732401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12142539 MYH9 myosin heavy chain 9 gene DOID:783 end stage renal disease ISO RGD:732401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18794854|PMID:18794856 12142539 MYH9 myosin heavy chain 9 gene DOID:783 end stage renal disease ISO RGD:732401 D RGD:9068941 20200609 RGD DNA:SNPs:multiple: PMID:20144966|REF_RGD_ID:6903243 12142539 MYH9 myosin heavy chain 9 gene DOID:783 end stage renal disease ISO RGD:732401 D RGD:9068941 20200609 RGD associated with diabetes mellitus, type 2;DNA:SNPs: : PMID:21968013|REF_RGD_ID:6903256 12142539 MYH9 myosin heavy chain 9 gene DOID:783 end stage renal disease ISO RGD:732401 D RGD:9068941 20200609 RGD associated with diabetes mellitus,type 2;DNA:SNPs: : PMID:19567477|REF_RGD_ID:6903238 12142539 MYH9 myosin heavy chain 9 gene DOID:783 end stage renal disease ISO RGD:732401 D RGD:9068941 20200609 RGD associated with hypertension, glomerulosclerosis, focal segmental;DNA:SNPs: :rs4821480, rs2032487, rs4821481(human) PMID:18794854|REF_RGD_ID:6903237 12142539 MYH9 myosin heavy chain 9 gene DOID:783 end stage renal disease ISO RGD:732401 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphisms:multiple: PMID:19177153|REF_RGD_ID:6903239 12142539 MYH9 myosin heavy chain 9 gene DOID:784 chronic kidney disease no_association ISO RGD:732401 D RGD:9068941 20200609 RGD PMID:22956460|REF_RGD_ID:12798515 12142539 MYH9 myosin heavy chain 9 gene DOID:9001542 Albuminuria ISO RGD:732401 D RGD:9068941 20200609 RGD associated with hypertension;DNA:SNPs: : PMID:19153477|REF_RGD_ID:6903241 12142539 MYH9 myosin heavy chain 9 gene DOID:9002631 Vitelliform Macular Dystrophy 1 ISO RGD:732401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 1 PMID:24033266|PMID:24130771|PMID:25077172|PMID:26467025|PMID:28492532|PMID:30720677 12142539 MYH9 myosin heavy chain 9 gene DOID:9004538 Hearing Loss ISO RGD:732401 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:18059020|PMID:24033266|PMID:28492532|PMID:30311386|PMID:30872814 12142539 MYH9 myosin heavy chain 9 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 12142539 MYH9 myosin heavy chain 9 gene DOID:9005875 Giant Platelet Syndrome with Thrombocytopenia ISO RGD:732401 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Giant platelet syndrome with thrombocytopenia PMID:10603121|PMID:10973259|PMID:10973260|PMID:11023810|PMID:11159552|PMID:11590545|PMID:11752022|PMID:11776386|PMID:11935325|PMID:12533692|PMID:12621333|PMID:12649151|PMID:12792306|PMID:1449176|PMID:15339844|PMID:16098078|PMID:16162639|PMID:16818291|PMID:16969870|PMID:17146397|PMID:17655694|PMID:18059020|PMID:18330899|PMID:18676005|PMID:20002731|PMID:20301740|PMID:20416459|PMID:20588287|PMID:21542825|PMID:22123909|PMID:22477015|PMID:22627578|PMID:22995991|PMID:23207509|PMID:23409987|PMID:23804846|PMID:24033266|PMID:24130771|PMID:24186861|PMID:24643058|PMID:24890873|PMID:25077172|PMID:25505834|PMID:25741868|PMID:25949529|PMID:26056797|PMID:26226608|PMID:26387855|PMID:26467025|PMID:28059092|PMID:28492532|PMID:29090586|PMID:29532554|PMID:29782633|PMID:30471777|PMID:30720677|PMID:30916803|PMID:31064749|PMID:32100410|PMID:32545517|PMID:32604935|PMID:33532864|PMID:34355501|PMID:5011389|PMID:8280620|PMID:9390828 12142539 MYH9 myosin heavy chain 9 gene DOID:9006182 Carotid Artery Injuries ISO RGD:3140 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery: PMID:11003588|REF_RGD_ID:11533926 12142539 MYH9 myosin heavy chain 9 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:732401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:24033266|PMID:25741868|PMID:28492532 12142539 MYH9 myosin heavy chain 9 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:732401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY PMID:28492532 12142539 MYH9 myosin heavy chain 9 gene DOID:9008782 AIDS-Associated Nephropathy ISO RGD:732401 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus PMID:22313957|REF_RGD_ID:6903274 12142539 MYH9 myosin heavy chain 9 gene DOID:9008939 Breast Neoplasms ISO RGD:732401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 12142539 MYH9 myosin heavy chain 9 gene DOID:9970 obesity ISO RGD:732401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:31064749 12142583 RGL2 ral guanine nucleotide dissociation stimulator like 2 gene DOID:0050553 JMP syndrome ISO RGD:1347432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12142583 RGL2 ral guanine nucleotide dissociation stimulator like 2 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1347432 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 12142583 RGL2 ral guanine nucleotide dissociation stimulator like 2 gene DOID:630 genetic disease ISO RGD:1347432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142607 TMEM144 transmembrane protein 144 gene DOID:630 genetic disease ISO RGD:1605072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142640 SLC35F6 solute carrier family 35 member F6 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1319452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12142640 SLC35F6 solute carrier family 35 member F6 gene DOID:630 genetic disease ISO RGD:1319452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142650 FNDC4 fibronectin type III domain containing 4 gene DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly ISO RGD:1345842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly PMID:28492532 12142650 FNDC4 fibronectin type III domain containing 4 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1345842 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12142650 FNDC4 fibronectin type III domain containing 4 gene DOID:630 genetic disease ISO RGD:1345842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142650 FNDC4 fibronectin type III domain containing 4 gene DOID:9455 lipid storage disease ISO RGD:1345842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557 12142665 FGD5 FYVE, RhoGEF and PH domain containing 5 gene DOID:0060417 3p deletion syndrome ISO RGD:1313708 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12142665 FGD5 FYVE, RhoGEF and PH domain containing 5 gene DOID:630 genetic disease ISO RGD:1313708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142665 FGD5 FYVE, RhoGEF and PH domain containing 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:1313708 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34427968 12142665 FGD5 FYVE, RhoGEF and PH domain containing 5 gene DOID:9000918 Disease Progression ISO RGD:1313708 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34427968 12142665 FGD5 FYVE, RhoGEF and PH domain containing 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1313708 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 12142694 TBC1D10A TBC1 domain family member 10A gene DOID:630 genetic disease ISO RGD:1605322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142713 SNAI2 snail family transcriptional repressor 2 gene DOID:0110952 Waardenburg syndrome type 2D ISO RGD:735659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2D PMID:12444107 12142713 SNAI2 snail family transcriptional repressor 2 gene DOID:0111961 immunodeficiency 26 ISO RGD:735659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency PMID:28492532 12142713 SNAI2 snail family transcriptional repressor 2 gene DOID:182 calcinosis ISO RGD:735659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29358327 12142713 SNAI2 snail family transcriptional repressor 2 gene DOID:3263 piebaldism ISO RGD:735659 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Partial albinism PMID:12955764|PMID:24033266|PMID:28492532|PMID:30936914|PMID:32975012 12142713 SNAI2 snail family transcriptional repressor 2 gene DOID:3263 piebaldism susceptibility ISO RGD:735659 D RGD:9068941 20200609 RGD DNA:deletions PMID:12444107|REF_RGD_ID:1600041 12142713 SNAI2 snail family transcriptional repressor 2 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:735659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12142713 SNAI2 snail family transcriptional repressor 2 gene DOID:630 genetic disease ISO RGD:735659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12142713 SNAI2 snail family transcriptional repressor 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:735659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17068819 12142713 SNAI2 snail family transcriptional repressor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22580338 12142713 SNAI2 snail family transcriptional repressor 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22580338 12142713 SNAI2 snail family transcriptional repressor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:735659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11850205 12142723 CYP7A1 cytochrome P450 family 7 subfamily A member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:69210 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12142723 CYP7A1 cytochrome P450 family 7 subfamily A member 1 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:69210 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:28774887|REF_RGD_ID:15045601 12142723 CYP7A1 cytochrome P450 family 7 subfamily A member 1 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:2482 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:liver (rat) treatment with INT-767 PMID:30038487|REF_RGD_ID:15092090 12142723 CYP7A1 cytochrome P450 family 7 subfamily A member 1 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:2482 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 12142723 CYP7A1 cytochrome P450 family 7 subfamily A member 1 gene DOID:13580 cholestasis ISO RGD:69210 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461449|PMID:9797378 12142723 CYP7A1 cytochrome P450 family 7 subfamily A member 1 gene DOID:13580 cholestasis treatment ISO RGD:2482 D RGD:9068941 20200609 RGD PMID:29655695|REF_RGD_ID:15090803 12142723 CYP7A1 cytochrome P450 family 7 subfamily A member 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:2482 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver, nucleus (rat) PMID:28660384|REF_RGD_ID:21203516 12142723 CYP7A1 cytochrome P450 family 7 subfamily A member 1 gene DOID:13619 extrahepatic cholestasis treatment ISO RGD:2482 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:29360226|REF_RGD_ID:14995480 12142723 CYP7A1 cytochrome P450 family 7 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:69210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12142723 CYP7A1 cytochrome P450 family 7 subfamily A member 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:2482 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:16472823|REF_RGD_ID:13782194 12142723 CYP7A1 cytochrome P450 family 7 subfamily A member 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:69210 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8245718 12142723 CYP7A1 cytochrome P450 family 7 subfamily A member 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2482 D RGD:9068941 20200609 RGD PMID:15521018|REF_RGD_ID:15045602 12142733 TMEM212 transmembrane protein 212 gene DOID:1062 Fanconi syndrome ISO RGD:2300031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 12142733 TMEM212 transmembrane protein 212 gene DOID:630 genetic disease ISO RGD:2300031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142742 STOX1 storkhead box 1 gene DOID:10591 pre-eclampsia ISO RGD:1321633 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Y153H (human) PMID:15806103|REF_RGD_ID:11553888 12142742 STOX1 storkhead box 1 gene DOID:10591 pre-eclampsia ISO RGD:1321633 D RGD:9068941 20200609 RGD human fetally expressed gene in a mouse model PMID:23357179|REF_RGD_ID:7248768 12142742 STOX1 storkhead box 1 gene DOID:10591 pre-eclampsia no_association ISO RGD:1321633 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Y153H (human) PMID:17617193|REF_RGD_ID:11553890 12142742 STOX1 storkhead box 1 gene DOID:10652 Alzheimer's disease severity ISO RGD:1321633 D RGD:9068941 20200609 RGD protein:increased expression:CA4 field of hippocampus (human) PMID:20110611|REF_RGD_ID:11554028 12142742 STOX1 storkhead box 1 gene DOID:630 genetic disease ISO RGD:1321633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142742 STOX1 storkhead box 1 gene DOID:9003936 Cardiomegaly ISO RGD:1321633 D RGD:9068941 20200609 RGD associated with Pre-Eclampsia; human gene fetally expressed in a mouse model PMID:26758611|REF_RGD_ID:11553897 12142742 STOX1 storkhead box 1 gene DOID:9008239 Preeclampsia/Eclampsia 4 ISO RGD:1321633 D RGD:7240710 20190327 OMIM 12142742 STOX1 storkhead box 1 gene DOID:9008239 Preeclampsia/Eclampsia 4 ISO RGD:1321633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Preeclampsia/eclampsia 4 PMID:15806103|PMID:17325670|PMID:33116287 12142751 TFR2 transferrin receptor 2 gene DOID:0111029 hemochromatosis type 1 ISO RGD:1320887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 1 | ClinVar Annotator: match by term: Hemochromatosis, type 1, modifier of PMID:12150153|PMID:16424658|PMID:20301523|PMID:22890139|PMID:23600741|PMID:24055163|PMID:25741868|PMID:26029709|PMID:28492532 12142751 TFR2 transferrin receptor 2 gene DOID:0111030 hemochromatosis type 3 ISO RGD:1320887 D RGD:7240710 20180130 OMIM 12142751 TFR2 transferrin receptor 2 gene DOID:0111030 hemochromatosis type 3 ISO RGD:1320887 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 3 | ClinVar Annotator: match by term: Hereditary hemochromatosis type 3 PMID:10802645|PMID:11102989|PMID:11313241|PMID:11358389|PMID:12130528|PMID:12150153|PMID:14633868|PMID:15147384|PMID:15749661|PMID:16424658|PMID:16838333|PMID:16923517|PMID:17562347|PMID:17576681|PMID:17951290|PMID:18245657|PMID:18450729|PMID:18762941|PMID:20301523|PMID:21524769|PMID:21770687|PMID:22890139|PMID:23556518|PMID:23600741|PMID:24055163|PMID:25741868|PMID:26029709|PMID:26183747|PMID:26408288|PMID:27667161|PMID:28492532|PMID:34946929|PMID:9536098 12142751 TFR2 transferrin receptor 2 gene DOID:0111031 hemochromatosis type 5 ISO RGD:1320887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary hemochromatosis type 5 PMID:28492532 12142751 TFR2 transferrin receptor 2 gene DOID:12241 beta thalassemia ISO RGD:1320887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16755567 12142751 TFR2 transferrin receptor 2 gene DOID:12241 beta thalassemia ISO RGD:1320888 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:16755567|REF_RGD_ID:11062138 12142751 TFR2 transferrin receptor 2 gene DOID:2352 hemochromatosis ISO RGD:1320887 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: HFE POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis PMID:11313241|PMID:12130528|PMID:12150153|PMID:14633868|PMID:15147384|PMID:16199547|PMID:16424658|PMID:17562347|PMID:17576681|PMID:17951290|PMID:18245657|PMID:18762941|PMID:20301523|PMID:21770687|PMID:21901660|PMID:22890139|PMID:23556518|PMID:23600741|PMID:24055163|PMID:25741868|PMID:26029709|PMID:27667161|PMID:28276324|PMID:28492532|PMID:9536098 12142751 TFR2 transferrin receptor 2 gene DOID:2352 hemochromatosis ISO RGD:1320887 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hemochromatosis PMID:11102989|PMID:11313241|PMID:11358389|PMID:12130528|PMID:12150153|PMID:14633868|PMID:15147384|PMID:16199547|PMID:16424658|PMID:17562347|PMID:17576681|PMID:17951290|PMID:18245657|PMID:18450729|PMID:18762941|PMID:20301523|PMID:21770687|PMID:22890139|PMID:22981443|PMID:23556518|PMID:23600741|PMID:24055163|PMID:25741868|PMID:26029709|PMID:26183747|PMID:26408288|PMID:27667161|PMID:27896572|PMID:28276324|PMID:28492532|PMID:9536098 12142751 TFR2 transferrin receptor 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12142751 TFR2 transferrin receptor 2 gene DOID:630 genetic disease ISO RGD:1320887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12142751 TFR2 transferrin receptor 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1320887 D RGD:9068941 20200609 RGD PMID:15015967|REF_RGD_ID:11062090 12142780 NYAP1 neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12142780 NYAP1 neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1 gene DOID:630 genetic disease ISO RGD:1602420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142800 MRPL27 mitochondrial ribosomal protein L27 gene DOID:630 genetic disease ISO RGD:1319233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142809 LPAR4 lysophosphatidic acid receptor 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12142809 LPAR4 lysophosphatidic acid receptor 4 gene DOID:12849 autistic disorder ISO RGD:1350247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12142809 LPAR4 lysophosphatidic acid receptor 4 gene DOID:630 genetic disease ISO RGD:1350247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142815 TRIM56 tripartite motif containing 56 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1342742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12142815 TRIM56 tripartite motif containing 56 gene DOID:630 genetic disease ISO RGD:1342742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142815 TRIM56 tripartite motif containing 56 gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:1342742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY PMID:21681106 12142824 CAGE1 cancer antigen 1 gene DOID:630 genetic disease ISO RGD:1604175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142850 CD5L CD5 molecule like gene DOID:1540 parathyroid carcinoma ISO RGD:1318347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12142850 CD5L CD5 molecule like gene DOID:630 genetic disease ISO RGD:1318347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142850 CD5L CD5 molecule like gene DOID:684 hepatocellular carcinoma ISO RGD:1318347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12142850 CD5L CD5 molecule like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12142850 CD5L CD5 molecule like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12142876 NPVF neuropeptide VF precursor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12142876 NPVF neuropeptide VF precursor gene DOID:630 genetic disease ISO RGD:1350677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142883 SPATA25 spermatogenesis associated 25 gene DOID:0080540 galactosialidosis ISO RGD:1351206 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase 12142883 SPATA25 spermatogenesis associated 25 gene DOID:2234 focal epilepsy ISO RGD:1351206 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12142883 SPATA25 spermatogenesis associated 25 gene DOID:630 genetic disease ISO RGD:1351206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142883 SPATA25 spermatogenesis associated 25 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1351206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12142889 ERICH6B glutamate rich 6B gene DOID:630 genetic disease ISO RGD:1606127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142927 OR2T4B olfactory receptor family 2 subfamily T member 4B gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1353621 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12142927 OR2T4B olfactory receptor family 2 subfamily T member 4B gene DOID:1540 parathyroid carcinoma ISO RGD:1353621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12142927 OR2T4B olfactory receptor family 2 subfamily T member 4B gene DOID:630 genetic disease ISO RGD:1353621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12142927 OR2T4B olfactory receptor family 2 subfamily T member 4B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12143037 PALLD palladin, cytoskeletal associated protein gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1604638 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:22499340|PMID:28492532|PMID:29068549 12143037 PALLD palladin, cytoskeletal associated protein gene DOID:1793 pancreatic cancer ISO RGD:1604638 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 PMID:10454945|PMID:11474289|PMID:17194196|PMID:17415588|PMID:24033266|PMID:25741868|PMID:28492532 12143037 PALLD palladin, cytoskeletal associated protein gene DOID:1793 pancreatic cancer ISO RGD:1604638 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 PMID:10454945|PMID:11474289|PMID:17194196|PMID:17415588|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33764904 12143037 PALLD palladin, cytoskeletal associated protein gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1604638 D RGD:7240710 20190502 OMIM 12143037 PALLD palladin, cytoskeletal associated protein gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1604638 D RGD:9068941 20200609 RGD protein:increased expression, alternative form:pancreas, fibroblast PMID:17404500|REF_RGD_ID:2325781 12143037 PALLD palladin, cytoskeletal associated protein gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1604638 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:10454945|PMID:11474289|PMID:17194196|PMID:17415588|PMID:17576681|PMID:24033266|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9536098 12143037 PALLD palladin, cytoskeletal associated protein gene DOID:4905 pancreatic carcinoma ISO RGD:1604638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:17194196|PMID:28166811|PMID:28492532 12143037 PALLD palladin, cytoskeletal associated protein gene DOID:630 genetic disease ISO RGD:1604638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12143037 PALLD palladin, cytoskeletal associated protein gene DOID:9000998 Brain Injuries ISO RGD:2322545 D RGD:9068941 20200609 RGD protein:increased expression:brain, astrocyte PMID:12932445|REF_RGD_ID:2325786 12143037 PALLD palladin, cytoskeletal associated protein gene DOID:9004657 Weight Gain ISO RGD:1604638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12143037 PALLD palladin, cytoskeletal associated protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10454945|PMID:11474289|PMID:17194196|PMID:17415588|PMID:24033266|PMID:25741868|PMID:28166811|PMID:28492532 12143071 RTF1 RTF1 homolog, Paf1/RNA polymerase II complex component gene DOID:2717 Bloom syndrome ISO RGD:1321684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12143071 RTF1 RTF1 homolog, Paf1/RNA polymerase II complex component gene DOID:630 genetic disease ISO RGD:1321684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143071 RTF1 RTF1 homolog, Paf1/RNA polymerase II complex component gene DOID:9256 colorectal cancer ISO RGD:1321684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12143092 TSPYL2 TSPY like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12143092 TSPYL2 TSPY like 2 gene DOID:12849 autistic disorder ISO RGD:1346364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12143092 TSPYL2 TSPY like 2 gene DOID:630 genetic disease ISO RGD:1346364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143092 TSPYL2 TSPY like 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1346364 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 12143108 LOC100684393 small nuclear ribonucleoprotein-associated proteins B and B' gene DOID:13938 amenorrhea ISO RGD:1606734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12143108 LOC100684393 small nuclear ribonucleoprotein-associated proteins B and B' gene DOID:630 genetic disease ISO RGD:1606734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143115 PROX2 prospero homeobox 2 gene DOID:1059 intellectual disability ISO RGD:1606668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12143115 PROX2 prospero homeobox 2 gene DOID:630 genetic disease ISO RGD:1606668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143158 FER FER tyrosine kinase gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314798 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12143158 FER FER tyrosine kinase gene DOID:630 genetic disease ISO RGD:1314798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143158 FER FER tyrosine kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12143158 FER FER tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314798 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12143187 PFKM phosphofructokinase, muscle gene DOID:0081241 peroxisome biogenesis disorder 3B ISO RGD:68621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisomal biogenesis disorder 3b PMID:9792857 12143187 PFKM phosphofructokinase, muscle gene DOID:11721 glycogen storage disease VII IAGP D RGD:12801476 20210603 OMIA Glycogen storage disease VII PMID:2137952|PMID:2958437|PMID:1840037|PMID:1289336|PMID:7868469|PMID:8702726|PMID:10331362|PMID:11440399|PMID:2940948|PMID:2933748|PMID:3155631|PMID:19228357|PMID:21311071|PMID:2976895|PMID:22446493|PMID:16783707|PMID:8654960|PMID:33348688 12143187 PFKM phosphofructokinase, muscle gene DOID:11721 glycogen storage disease VII ISO RGD:68621 D RGD:7240710 20180130 OMIM 12143187 PFKM phosphofructokinase, muscle gene DOID:11721 glycogen storage disease VII ISO RGD:68621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type VII PMID:14339001|PMID:16199547|PMID:17576681|PMID:1833270|PMID:2140573|PMID:22364848|PMID:22995305|PMID:24011984|PMID:24033266|PMID:25741868|PMID:27066546|PMID:28492532|PMID:28779239|PMID:7479776|PMID:7513946|PMID:7603526|PMID:7825568|PMID:8037209|PMID:8444874|PMID:8659544|PMID:8880699|PMID:8889589|PMID:9389749|PMID:9443500|PMID:9536098 12143187 PFKM phosphofructokinase, muscle gene DOID:2747 glycogen storage disease ISO RGD:68621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycogen storage disease PMID:24033266|PMID:28492532|PMID:7825568|PMID:8037209|PMID:8880699|PMID:9389749 12143187 PFKM phosphofructokinase, muscle gene DOID:630 genetic disease ISO RGD:68621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12143187 PFKM phosphofructokinase, muscle gene DOID:9000884 Rhabdomyolysis ISO RGD:68621 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:24033266|PMID:25741868|PMID:28492532|PMID:28779239|PMID:8037209|PMID:8444874|PMID:8880699|PMID:9389749 12143187 PFKM phosphofructokinase, muscle gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:68621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563825 12143187 PFKM phosphofructokinase, muscle gene DOID:9007102 Myocardial Ischemia ISO RGD:68621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12143213 UTP11 UTP11 small subunit processome component gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12143213 UTP11 UTP11 small subunit processome component gene DOID:630 genetic disease ISO RGD:731994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143225 RSPH1 radial spoke head component 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1317061 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:23993197|PMID:24033266|PMID:24518672|PMID:24568568|PMID:25741868|PMID:25789548|PMID:26139845|PMID:28492532 12143225 RSPH1 radial spoke head component 1 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1317061 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs2839531) T>C (human) PMID:27354594|REF_RGD_ID:152177496 12143225 RSPH1 radial spoke head component 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1317061 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12143225 RSPH1 radial spoke head component 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1317061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12143225 RSPH1 radial spoke head component 1 gene DOID:0110628 primary ciliary dyskinesia 24 ISO RGD:1317061 D RGD:7240710 20180130 OMIM 12143225 RSPH1 radial spoke head component 1 gene DOID:0110628 primary ciliary dyskinesia 24 ISO RGD:1317061 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 24 PMID:17576681|PMID:23993197|PMID:24033266|PMID:24518672|PMID:24568568|PMID:25741868|PMID:25789548|PMID:26139845|PMID:28492532|PMID:31772028|PMID:9536098 12143225 RSPH1 radial spoke head component 1 gene DOID:630 genetic disease ISO RGD:1317061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12143225 RSPH1 radial spoke head component 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1317061 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12143225 RSPH1 radial spoke head component 1 gene DOID:9263 homocystinuria ISO RGD:1317061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12143225 RSPH1 radial spoke head component 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317061 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:23993197|PMID:24033266|PMID:24518672|PMID:24568568|PMID:25741868|PMID:25789548|PMID:26139845|PMID:28492532|PMID:31772028|PMID:9536098 12143247 KANSL1L KAT8 regulatory NSL complex subunit 1 like gene DOID:14557 primary pulmonary hypertension ISO RGD:1606446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12143247 KANSL1L KAT8 regulatory NSL complex subunit 1 like gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1606446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12143247 KANSL1L KAT8 regulatory NSL complex subunit 1 like gene DOID:630 genetic disease ISO RGD:1606446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143247 KANSL1L KAT8 regulatory NSL complex subunit 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12143284 CCDC42 coiled-coil domain containing 42 gene DOID:630 genetic disease ISO RGD:1601721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143295 NIPSNAP2 nipsnap homolog 2 gene DOID:12849 autistic disorder ISO RGD:1345241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12143295 NIPSNAP2 nipsnap homolog 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12143295 NIPSNAP2 nipsnap homolog 2 gene DOID:630 genetic disease ISO RGD:1345241 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143313 VSIG1 V-set and immunoglobulin domain containing 1 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1347101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 12143313 VSIG1 V-set and immunoglobulin domain containing 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12143313 VSIG1 V-set and immunoglobulin domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1347101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12143313 VSIG1 V-set and immunoglobulin domain containing 1 gene DOID:630 genetic disease ISO RGD:1347101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143326 STAC3 SH3 and cysteine rich domain 3 gene DOID:0060346 Native American myopathy ISO RGD:1319045 D RGD:7240710 20180130 OMIM 12143326 STAC3 SH3 and cysteine rich domain 3 gene DOID:0060346 Native American myopathy ISO RGD:1319045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 13 | ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA PMID:16199547|PMID:17576681|PMID:23736855|PMID:25741868|PMID:28411587|PMID:28492532|PMID:28777491|PMID:30168660|PMID:31219695|PMID:32492370|PMID:9536098 12143326 STAC3 SH3 and cysteine rich domain 3 gene DOID:0080600 COVID-19 ISO RGD:1319045 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12143326 STAC3 SH3 and cysteine rich domain 3 gene DOID:630 genetic disease ISO RGD:1319045 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28411587|PMID:28492532|PMID:28777491|PMID:31219695 12143326 STAC3 SH3 and cysteine rich domain 3 gene DOID:6846 familial melanoma ISO RGD:1319045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 12143326 STAC3 SH3 and cysteine rich domain 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319045 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12143326 STAC3 SH3 and cysteine rich domain 3 gene DOID:9005369 Hepatomegaly ISO RGD:1319045 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12143326 STAC3 SH3 and cysteine rich domain 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1319045 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12143345 LOC481841 glutathione S-transferase-like gene DOID:0060041 autism spectrum disorder ISO RGD:737133 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12143345 LOC481841 glutathione S-transferase-like gene DOID:630 genetic disease ISO RGD:737133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143345 LOC481841 glutathione S-transferase-like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737133 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 12143356 MICAL1 microtubule associated monooxygenase, calponin and LIM domain containing 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1604315 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 12143356 MICAL1 microtubule associated monooxygenase, calponin and LIM domain containing 1 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:1604315 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:25741868|PMID:28492532 12143356 MICAL1 microtubule associated monooxygenase, calponin and LIM domain containing 1 gene DOID:0090009 immunodeficiency-centromeric instability-facial anomalies syndrome 2 ISO RGD:1604315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 2 PMID:28492532 12143356 MICAL1 microtubule associated monooxygenase, calponin and LIM domain containing 1 gene DOID:630 genetic disease ISO RGD:1604315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12143356 MICAL1 microtubule associated monooxygenase, calponin and LIM domain containing 1 gene DOID:9004342 Familial Temporal Epilepsy ISO RGD:1604315 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: MICAL1-related Lateral temporal epilepsy PMID:17576681|PMID:28492532|PMID:9536098 12143382 CWH43 cell wall biogenesis 43 C-terminal homolog gene DOID:1572 normal pressure hydrocephalus ISO RGD:1332079 D RGD:9068941 20230309 MouseDO OMIM:236690 12143382 CWH43 cell wall biogenesis 43 C-terminal homolog gene DOID:630 genetic disease ISO RGD:1602204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143382 CWH43 cell wall biogenesis 43 C-terminal homolog gene DOID:9005172 Lung Neoplasms ISO RGD:1602204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12143401 GAL3ST3 galactose-3-O-sulfotransferase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1343263 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12143401 GAL3ST3 galactose-3-O-sulfotransferase 3 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1343263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 12143401 GAL3ST3 galactose-3-O-sulfotransferase 3 gene DOID:1059 intellectual disability ISO RGD:1343263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12143401 GAL3ST3 galactose-3-O-sulfotransferase 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1343263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12143401 GAL3ST3 galactose-3-O-sulfotransferase 3 gene DOID:2746 glycogen storage disease V ISO RGD:1343263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12143401 GAL3ST3 galactose-3-O-sulfotransferase 3 gene DOID:630 genetic disease ISO RGD:1343263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143401 GAL3ST3 galactose-3-O-sulfotransferase 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1343263 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12143401 GAL3ST3 galactose-3-O-sulfotransferase 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1343263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12143415 EPM2A EPM2A glucan phosphatase, laforin gene DOID:1059 intellectual disability ISO RGD:736258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26467025|PMID:28492532 12143415 EPM2A EPM2A glucan phosphatase, laforin gene DOID:1826 epilepsy ISO RGD:736258 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26467025|PMID:28492532 12143415 EPM2A EPM2A glucan phosphatase, laforin gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:736258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:29358611 12143415 EPM2A EPM2A glucan phosphatase, laforin gene DOID:3534 Lafora disease ISO RGD:736258 D RGD:7240710 20180130 OMIM 12143415 EPM2A EPM2A glucan phosphatase, laforin gene DOID:3534 Lafora disease ISO RGD:736258 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Lafora disease PMID:10932264|PMID:11175283|PMID:11735300|PMID:11739371|PMID:12019207|PMID:14532330|PMID:14706656|PMID:14722920|PMID:16021330|PMID:16134145|PMID:16199547|PMID:17010495|PMID:17389303|PMID:19403557|PMID:20738377|PMID:21623095|PMID:25246353|PMID:25544560|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28492532|PMID:33773408|PMID:34755096|PMID:9771710|PMID:9931343 12143415 EPM2A EPM2A glucan phosphatase, laforin gene DOID:630 genetic disease ISO RGD:736258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10932264|PMID:11175283|PMID:11735300|PMID:12019207|PMID:14532330|PMID:14706656|PMID:16021330|PMID:17010495|PMID:17389303|PMID:17576681|PMID:18414213|PMID:20738377|PMID:21623095|PMID:21652633|PMID:22618127|PMID:25246353|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28492532|PMID:30947044|PMID:31493945|PMID:33773408|PMID:34755096|PMID:9536098|PMID:9771710|PMID:9931343 12143415 EPM2A EPM2A glucan phosphatase, laforin gene DOID:83 cataract ISO RGD:736258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:25741868|PMID:28492532 12143415 EPM2A EPM2A glucan phosphatase, laforin gene DOID:891 progressive myoclonus epilepsy ISO RGD:736258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:10932264|PMID:11175283|PMID:11735300|PMID:12019207|PMID:14532330|PMID:14706656|PMID:14722920|PMID:16021330|PMID:16134145|PMID:16199547|PMID:16311711|PMID:17010495|PMID:17389303|PMID:17509003|PMID:17576681|PMID:18029386|PMID:18311786|PMID:18414213|PMID:19403557|PMID:20738377|PMID:21623095|PMID:25246353|PMID:25544560|PMID:25741868|PMID:26467025|PMID:26493215|PMID:27843123|PMID:28492532|PMID:28800070|PMID:28934672|PMID:30041081|PMID:31493945|PMID:9536098|PMID:9771710|PMID:9931343 12143415 EPM2A EPM2A glucan phosphatase, laforin gene DOID:891 progressive myoclonus epilepsy ISO RGD:736258 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:10932264|PMID:11175283|PMID:11735300|PMID:12019207|PMID:14706656|PMID:14722920|PMID:16021330|PMID:16134145|PMID:16199547|PMID:17010495|PMID:17389303|PMID:17576681|PMID:18311786|PMID:18414213|PMID:20738377|PMID:21623095|PMID:25246353|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28492532|PMID:30041081|PMID:9536098|PMID:9771710|PMID:9931343 12143415 EPM2A EPM2A glucan phosphatase, laforin gene DOID:891 progressive myoclonus epilepsy ISO RGD:736258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:10932264|PMID:11175283|PMID:11735300|PMID:11739371|PMID:12019207|PMID:14532330|PMID:14706656|PMID:14722920|PMID:16021330|PMID:16134145|PMID:16199547|PMID:16311711|PMID:17010495|PMID:17389303|PMID:17576681|PMID:18029386|PMID:18311786|PMID:18414213|PMID:19403557|PMID:20738377|PMID:21623095|PMID:21652633|PMID:25246353|PMID:25544560|PMID:25741868|PMID:26467025|PMID:26493215|PMID:27574708|PMID:27843123|PMID:28492532|PMID:28800070|PMID:28934672|PMID:30041081|PMID:30947044|PMID:31227012|PMID:31493945|PMID:32342326|PMID:34117373|PMID:9536098|PMID:9771710|PMID:9931343 12143415 EPM2A EPM2A glucan phosphatase, laforin gene DOID:891 progressive myoclonus epilepsy ISO RGD:736258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:10932264|PMID:11175283|PMID:11735300|PMID:11739371|PMID:12019207|PMID:14532330|PMID:14706656|PMID:14722920|PMID:16021330|PMID:16134145|PMID:16199547|PMID:16311711|PMID:17010495|PMID:17389303|PMID:17509003|PMID:17576681|PMID:18029386|PMID:18311786|PMID:18414213|PMID:19403557|PMID:20738377|PMID:21623095|PMID:21652633|PMID:25246353|PMID:25544560|PMID:25741868|PMID:26467025|PMID:26493215|PMID:27574708|PMID:27843123|PMID:28492532|PMID:28800070|PMID:28934672|PMID:30041081|PMID:30947044|PMID:31227012|PMID:31493945|PMID:32342326|PMID:33773408|PMID:34117373|PMID:34755096|PMID:9536098|PMID:9771710|PMID:9931343 12143415 EPM2A EPM2A glucan phosphatase, laforin gene DOID:9006534 Nervous System Malformations ISO RGD:736258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12143427 CLIC4 chloride intracellular channel 4 gene DOID:630 genetic disease ISO RGD:737114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143427 CLIC4 chloride intracellular channel 4 gene DOID:8398 osteoarthritis ISO RGD:737114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12143427 CLIC4 chloride intracellular channel 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12143427 CLIC4 chloride intracellular channel 4 gene DOID:9004657 Weight Gain ISO RGD:737114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12143427 CLIC4 chloride intracellular channel 4 gene DOID:9007661 Dwarfism ISO RGD:737114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12143437 CHRM5 cholinergic receptor muscarinic 5 gene DOID:0060001 withdrawal disorder ISO RGD:1350007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12154229 12143437 CHRM5 cholinergic receptor muscarinic 5 gene DOID:2717 Bloom syndrome ISO RGD:1350007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12143437 CHRM5 cholinergic receptor muscarinic 5 gene DOID:630 genetic disease ISO RGD:1350007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143437 CHRM5 cholinergic receptor muscarinic 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1350007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:13130510 12143437 CHRM5 cholinergic receptor muscarinic 5 gene DOID:9256 colorectal cancer ISO RGD:1350007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12143446 CHAF1B chromatin assembly factor 1 subunit B gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1316940 D RGD:9068941 20200609 RGD protein:increased expression:mouth mucosa: PMID:22882088|REF_RGD_ID:9587477 12143446 CHAF1B chromatin assembly factor 1 subunit B gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12143446 CHAF1B chromatin assembly factor 1 subunit B gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12143446 CHAF1B chromatin assembly factor 1 subunit B gene DOID:10283 prostate cancer ISO RGD:1316940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12143446 CHAF1B chromatin assembly factor 1 subunit B gene DOID:10283 prostate cancer disease_progression ISO RGD:1316940 D RGD:9068941 20200609 RGD protein:increased expression:prostate: PMID:19309489|REF_RGD_ID:9587461 12143446 CHAF1B chromatin assembly factor 1 subunit B gene DOID:3068 glioblastoma ISO RGD:1316940 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:24039914|REF_RGD_ID:9587472 12143446 CHAF1B chromatin assembly factor 1 subunit B gene DOID:3070 high grade glioma disease_progression ISO RGD:1316940 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:24039914|REF_RGD_ID:9587472 12143446 CHAF1B chromatin assembly factor 1 subunit B gene DOID:403 mouth disease ISO RGD:1316940 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 12143446 CHAF1B chromatin assembly factor 1 subunit B gene DOID:630 genetic disease ISO RGD:1316940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143446 CHAF1B chromatin assembly factor 1 subunit B gene DOID:684 hepatocellular carcinoma ISO RGD:1316940 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12143446 CHAF1B chromatin assembly factor 1 subunit B gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1316940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 12143446 CHAF1B chromatin assembly factor 1 subunit B gene DOID:8923 skin melanoma severity ISO RGD:1316940 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:20178651|REF_RGD_ID:9587476 12143446 CHAF1B chromatin assembly factor 1 subunit B gene DOID:9003216 Salivary Gland Neoplasms disease_progression ISO RGD:1316940 D RGD:9068941 20200609 RGD protein:increased expression:salivary gland: PMID:21109952|REF_RGD_ID:9587467 12143446 CHAF1B chromatin assembly factor 1 subunit B gene DOID:9008086 Developmental Disabilities ISO RGD:1316940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 12143446 CHAF1B chromatin assembly factor 1 subunit B gene DOID:9008192 Neoplastic Processes ISO RGD:1316940 D RGD:9068941 20200609 RGD protein:increased expression:: PMID:22882088|REF_RGD_ID:9587477 12143466 METAP1D methionyl aminopeptidase type 1D, mitochondrial gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1605558 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12143466 METAP1D methionyl aminopeptidase type 1D, mitochondrial gene DOID:630 genetic disease ISO RGD:1605558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143480 RGS14 regulator of G protein signaling 14 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:733515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12143480 RGS14 regulator of G protein signaling 14 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:733515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12143480 RGS14 regulator of G protein signaling 14 gene DOID:0112103 Sotos syndrome 1 ISO RGD:733515 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 12143480 RGS14 regulator of G protein signaling 14 gene DOID:585 nephrolithiasis ISO RGD:733515 D RGD:9068941 20200609 RGD DNA:SNP: :rs11746443 (human) PMID:22396660|REF_RGD_ID:7242927 12143480 RGS14 regulator of G protein signaling 14 gene DOID:630 genetic disease ISO RGD:733515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143480 RGS14 regulator of G protein signaling 14 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:733515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12143480 RGS14 regulator of G protein signaling 14 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:733515 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 12143499 DVL2 dishevelled segment polarity protein 2 gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:1320220 D RGD:9068941 20220825 MouseDO 12143499 DVL2 dishevelled segment polarity protein 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1320219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:10077518|PMID:11590124|PMID:14517516|PMID:17374501|PMID:17999356|PMID:18227065|PMID:21932095|PMID:25741868|PMID:26453363|PMID:27246109|PMID:28492532|PMID:9839948|PMID:9973285 12143499 DVL2 dishevelled segment polarity protein 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1320219 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12143499 DVL2 dishevelled segment polarity protein 2 gene DOID:1059 intellectual disability ISO RGD:1320219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12143499 DVL2 dishevelled segment polarity protein 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1320219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12143499 DVL2 dishevelled segment polarity protein 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1320219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12143499 DVL2 dishevelled segment polarity protein 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1320219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12143499 DVL2 dishevelled segment polarity protein 2 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1320219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12143499 DVL2 dishevelled segment polarity protein 2 gene DOID:630 genetic disease ISO RGD:1320219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143529 PLK1 polo like kinase 1 gene DOID:0080600 COVID-19 ISO RGD:1353801 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12143529 PLK1 polo like kinase 1 gene DOID:10286 prostate carcinoma ISO RGD:1353801 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:15948124|REF_RGD_ID:2299939 12143529 PLK1 polo like kinase 1 gene DOID:11054 urinary bladder cancer ISO RGD:1353801 D RGD:9068941 20200609 RGD PMID:15761500|REF_RGD_ID:2299940 12143529 PLK1 polo like kinase 1 gene DOID:11054 urinary bladder cancer severity ISO RGD:1353801 D RGD:9068941 20200609 RGD PMID:16837776|REF_RGD_ID:2299938 12143529 PLK1 polo like kinase 1 gene DOID:1240 leukemia ISO RGD:1353801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26008977 12143529 PLK1 polo like kinase 1 gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:1353801 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:14970859|REF_RGD_ID:2299941 12143529 PLK1 polo like kinase 1 gene DOID:289 endometriosis ISO RGD:1353801 D RGD:9068941 20200609 RGD mRNA, protein:increased expression PMID:18353325|REF_RGD_ID:2299937 12143529 PLK1 polo like kinase 1 gene DOID:3070 high grade glioma ISO RGD:1353801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22000864 12143529 PLK1 polo like kinase 1 gene DOID:3459 breast carcinoma severity ISO RGD:1353801 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15785925|REF_RGD_ID:2299942 12143529 PLK1 polo like kinase 1 gene DOID:630 genetic disease ISO RGD:1353801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143529 PLK1 polo like kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1353801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12143529 PLK1 polo like kinase 1 gene DOID:9007479 Habitual Abortions ISO RGD:1353801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion 12143543 PRMT6 protein arginine methyltransferase 6 gene DOID:12849 autistic disorder ISO RGD:1312299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12143543 PRMT6 protein arginine methyltransferase 6 gene DOID:630 genetic disease ISO RGD:1312299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143543 PRMT6 protein arginine methyltransferase 6 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1312299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27506785 12143549 TGIF1 TGFB induced factor homeobox 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1321463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12143549 TGIF1 TGFB induced factor homeobox 1 gene DOID:0110880 holoprosencephaly 4 ISO RGD:1321463 D RGD:7240710 20190315 OMIM 12143549 TGIF1 TGFB induced factor homeobox 1 gene DOID:0110880 holoprosencephaly 4 ISO RGD:1321463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 4 PMID:10835638|PMID:11810641|PMID:12522553|PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:21940735|PMID:22125506|PMID:22859937|PMID:24123366|PMID:25741868|PMID:28492532|PMID:30157302 12143549 TGIF1 TGFB induced factor homeobox 1 gene DOID:1059 intellectual disability ISO RGD:1321463 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12143549 TGIF1 TGFB induced factor homeobox 1 gene DOID:10754 otitis media ISO RGD:1321464 D RGD:9068941 20220825 MouseDO OMIM:166760 12143549 TGIF1 TGFB induced factor homeobox 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1321463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12143549 TGIF1 TGFB induced factor homeobox 1 gene DOID:1923 disorder of sexual development ISO RGD:1321463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 12143549 TGIF1 TGFB induced factor homeobox 1 gene DOID:4621 holoprosencephaly ISO RGD:1321463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:25741868|PMID:28492532 12143549 TGIF1 TGFB induced factor homeobox 1 gene DOID:630 genetic disease ISO RGD:1321463 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12143549 TGIF1 TGFB induced factor homeobox 1 gene DOID:767 muscular atrophy ISO RGD:1310517 D RGD:9068941 20200609 RGD associated with Carcinoma, Hepatocellular; mRNA:increased expression:gastrocnemius muscle (rat) PMID:14718385|REF_RGD_ID:1641826 12143549 TGIF1 TGFB induced factor homeobox 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1321463 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29746904 12143549 TGIF1 TGFB induced factor homeobox 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1310517 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus (rat) PMID:15153551|REF_RGD_ID:1599409 12143549 TGIF1 TGFB induced factor homeobox 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1321463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25791921 12143549 TGIF1 TGFB induced factor homeobox 1 gene DOID:9005523 Majeed Syndrome ISO RGD:1321463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Majeed syndrome PMID:28492532 12143561 SERPINB8 serpin family B member 8 gene DOID:0060283 peeling skin syndrome ISO RGD:1320387 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12143561 SERPINB8 serpin family B member 8 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1320387 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12143561 SERPINB8 serpin family B member 8 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1320387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 12143561 SERPINB8 serpin family B member 8 gene DOID:630 genetic disease ISO RGD:1320387 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12143561 SERPINB8 serpin family B member 8 gene DOID:8893 psoriasis ISO RGD:1320387 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953187 12143561 SERPINB8 serpin family B member 8 gene DOID:9005907 Peeling Skin Syndrome 5 ISO RGD:1320387 D RGD:7240710 20190315 OMIM 12143561 SERPINB8 serpin family B member 8 gene DOID:9005907 Peeling Skin Syndrome 5 ISO RGD:1320387 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peeling skin syndrome 5 PMID:25741868|PMID:27476651|PMID:28492532 12143575 TBATA thymus, brain and testes associated gene DOID:10487 Hirschsprung's disease ISO RGD:1322498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 12143575 TBATA thymus, brain and testes associated gene DOID:630 genetic disease ISO RGD:1322498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:0050855 renal fibrosis ISO RGD:1553522 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney cortex: PMID:22342673|REF_RGD_ID:7245951 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:0060180 colitis ISO RGD:708425 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney: PMID:23307618|REF_RGD_ID:7245473 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1352552 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:10763 hypertension ISO RGD:708425 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:23085980|REF_RGD_ID:7245484 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:10825 essential hypertension ISO RGD:1352552 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:22923545|REF_RGD_ID:7245500 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:11111 hydronephrosis ISO RGD:1352552 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:21279810|REF_RGD_ID:7245985 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:12556 acute kidney tubular necrosis ISO RGD:1352552 D RGD:9068941 20200609 RGD protein:increased expression:kidney tubule, urine: PMID:12081583|REF_RGD_ID:7245970 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1352552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19225054 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:1591 renovascular hypertension ISO RGD:1352552 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:22923545|REF_RGD_ID:7245500 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:1920 hyperuricemia ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:23673972|REF_RGD_ID:7244371 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:15153541|REF_RGD_ID:5128853 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:2527 nephrosis ISO RGD:708425 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:17213874|REF_RGD_ID:7246891 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:2841 asthma ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:20628202|REF_RGD_ID:5128851 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:23135864|REF_RGD_ID:7245479 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1352552 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:21467131|REF_RGD_ID:7245983 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:3021 acute kidney failure ISO RGD:1352552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20118187|PMID:21259293|PMID:21835770|PMID:22005293|PMID:23052191|PMID:23845967|PMID:24189134|PMID:24361871|PMID:24958931|PMID:28885000 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:3021 acute kidney failure ISO RGD:1352552 D RGD:9068941 20200609 RGD associated with Pyelonephritis;protein:increased expression:urine: PMID:23319831|REF_RGD_ID:7245472 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:3021 acute kidney failure ISO RGD:1553522 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:23019274|REF_RGD_ID:7245495 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:3021 acute kidney failure ISO RGD:708425 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:23683031|REF_RGD_ID:7244370 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:3310 atopic dermatitis ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:16159638|REF_RGD_ID:5128852 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:23352434|REF_RGD_ID:7245470 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:5199 ureteral obstruction ISO RGD:1553522 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney tubule: PMID:22257277|REF_RGD_ID:7245953 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:557 kidney disease ISO RGD:1352552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19349640|PMID:20181666|PMID:20438795|PMID:21888673|PMID:23019274|PMID:24863737|PMID:24880025 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:557 kidney disease disease_progression ISO RGD:1352552 D RGD:9068941 20200609 RGD associated with Antineutrophil Cytoplasmic Antibody-associated Vasculitis; PMID:23547217|REF_RGD_ID:7244373 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:576 proteinuria ISO RGD:1352552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19225054 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:576 proteinuria ISO RGD:708425 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney,urine PMID:16467126|REF_RGD_ID:7245980 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:630 genetic disease ISO RGD:1352552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352552 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:784 chronic kidney disease ISO RGD:1352552 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:33052911 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:784 chronic kidney disease ISO RGD:708425 D RGD:9068941 20200609 RGD PMID:22269876|REF_RGD_ID:7245952 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1553522 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:12388382|REF_RGD_ID:7245969 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9000884 Rhabdomyolysis ISO RGD:708425 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:22937747|REF_RGD_ID:7245499 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9001542 Albuminuria ISO RGD:1352552 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;protein:increased expression:urine: PMID:21630304|REF_RGD_ID:7245982 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1352552 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus,Type 2;protein:increased expression:urine: PMID:22015481|REF_RGD_ID:7245960 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:708425 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22997966|REF_RGD_ID:7245497 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:1352552 D RGD:9068941 20200609 RGD associated with Diabetes mellitus, Type 1; PMID:20980978|REF_RGD_ID:7246890 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9004283 Transplant Rejection ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:23435265|REF_RGD_ID:7244382 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:23131280|REF_RGD_ID:7245480 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9004912 Hyperoxaluria ISO RGD:708425 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney, urine PMID:22984472|REF_RGD_ID:7245498 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:708425 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:23335628|REF_RGD_ID:7245471 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9005749 Necrosis ISO RGD:1352552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24880025 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1352552 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:23085062|REF_RGD_ID:7245489 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1553522 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:23019274|REF_RGD_ID:7245495 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:708425 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:23552495|REF_RGD_ID:7244372 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1352552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15805072|PMID:24361871|PMID:28885000 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9007325 Cardio-Renal Syndrome ISO RGD:708425 D RGD:9068941 20200609 RGD protein:increased expression:kidney tubule: PMID:22367506|REF_RGD_ID:7245950 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9007325 Cardio-Renal Syndrome susceptibility ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:23220287|REF_RGD_ID:7245477 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9008727 Ige Responsiveness, Atopic ISO RGD:1352552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: IgE responsiveness, atopic PMID:14534576|PMID:21339644 12143590 HAVCR1 hepatitis A virus cellular receptor 1 gene DOID:9620 vesicoureteral reflux ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:23200959|REF_RGD_ID:7245478 12143621 PAK2 p21 (RAC1) activated kinase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:62246 D RGD:9068941 20220825 MouseDO 12143621 PAK2 p21 (RAC1) activated kinase 2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:732793 D RGD:9068941 20200609 RGD PMID:22886747|REF_RGD_ID:7775026 12143621 PAK2 p21 (RAC1) activated kinase 2 gene DOID:0060224 atrial fibrillation ISO RGD:732793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12143621 PAK2 p21 (RAC1) activated kinase 2 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:732793 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 12143621 PAK2 p21 (RAC1) activated kinase 2 gene DOID:12849 autistic disorder ISO RGD:732793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12143621 PAK2 p21 (RAC1) activated kinase 2 gene DOID:5199 ureteral obstruction ISO RGD:61953 D RGD:9068941 20210312 RGD protein:increased activity:kidney: PMID:15629889|REF_RGD_ID:8693572 12143621 PAK2 p21 (RAC1) activated kinase 2 gene DOID:5419 schizophrenia ISO RGD:732793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12143621 PAK2 p21 (RAC1) activated kinase 2 gene DOID:576 proteinuria ISO RGD:732793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20071462 12143621 PAK2 p21 (RAC1) activated kinase 2 gene DOID:630 genetic disease ISO RGD:732793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143621 PAK2 p21 (RAC1) activated kinase 2 gene DOID:9000127 Knobloch Syndrome Type II ISO RGD:732793 D RGD:7240710 20220810 OMIM 12143621 PAK2 p21 (RAC1) activated kinase 2 gene DOID:9002033 Knobloch Syndrome ISO RGD:732793 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Knobloch syndrome PMID:14695535|PMID:33693784|PMID:9677068 12143621 PAK2 p21 (RAC1) activated kinase 2 gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:61953 D RGD:9068941 20210312 RGD PMID:20071462|REF_RGD_ID:9835041 12143621 PAK2 p21 (RAC1) activated kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732793 D RGD:9068941 20200609 RGD PMID:22886747|REF_RGD_ID:7775026 12143643 DEFB113 defensin beta 113 gene DOID:630 genetic disease ISO RGD:1346729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143647 ADPRHL1 ADP-ribosylhydrolase like 1 gene DOID:2222 factor X deficiency ISO RGD:1313790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12143647 ADPRHL1 ADP-ribosylhydrolase like 1 gene DOID:630 genetic disease ISO RGD:1313790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143665 KASH5 KASH domain containing 5 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1602065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12143665 KASH5 KASH domain containing 5 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1602065 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 12143665 KASH5 KASH domain containing 5 gene DOID:14227 azoospermia ISO RGD:1602065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 12143665 KASH5 KASH domain containing 5 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1602065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 12143665 KASH5 KASH domain containing 5 gene DOID:630 genetic disease ISO RGD:1602065 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143704 IRF1 interferon regulatory factor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735989 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12143704 IRF1 interferon regulatory factor 1 gene DOID:10534 stomach cancer ISO RGD:735989 D RGD:7240710 20220209 OMIM 12143704 IRF1 interferon regulatory factor 1 gene DOID:10534 stomach cancer ISO RGD:735989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:9679752 12143704 IRF1 interferon regulatory factor 1 gene DOID:11204 allergic conjunctivitis ISO RGD:2920 D RGD:9068941 20200609 RGD PMID:14605445|REF_RGD_ID:5128787 12143704 IRF1 interferon regulatory factor 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:2920 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion PMID:20045913|REF_RGD_ID:5128775 12143704 IRF1 interferon regulatory factor 1 gene DOID:1485 cystic fibrosis ISO RGD:10815 D RGD:9068941 20200609 RGD protein:decreased expression:intestine epithelium, nasal cavity epithelium PMID:10930443|REF_RGD_ID:5128720 12143704 IRF1 interferon regulatory factor 1 gene DOID:2043 hepatitis B disease_progression ISO RGD:10815 D RGD:9068941 20201218 RGD PMID:11861827|REF_RGD_ID:40902828 12143704 IRF1 interferon regulatory factor 1 gene DOID:2841 asthma ISO RGD:735989 D RGD:9068941 20200609 RGD protein:increased expression:respiratory tract epithelium PMID:10225979|REF_RGD_ID:5128723 12143704 IRF1 interferon regulatory factor 1 gene DOID:2841 asthma no_association ISO RGD:735989 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, cds:-300G>T, 4396A>G, 6355G>A (human) PMID:11069564|REF_RGD_ID:5128726 12143704 IRF1 interferon regulatory factor 1 gene DOID:2841 asthma susceptibility ISO RGD:735989 D RGD:9068941 20200609 RGD DNA:repeat:intron (human) PMID:16961714|REF_RGD_ID:5128724 12143704 IRF1 interferon regulatory factor 1 gene DOID:2870 endometrial adenocarcinoma ISO RGD:2920 D RGD:9068941 20200609 RGD DNA:deletions (rat) PMID:19075038|REF_RGD_ID:5128782 12143704 IRF1 interferon regulatory factor 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:10815 D RGD:9068941 20200609 RGD PMID:11083808|REF_RGD_ID:5128719 12143704 IRF1 interferon regulatory factor 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:735989 D RGD:9068941 20200609 RGD PMID:9679752|REF_RGD_ID:1600013 12143704 IRF1 interferon regulatory factor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:10395927 12143704 IRF1 interferon regulatory factor 1 gene DOID:5199 ureteral obstruction ISO RGD:2920 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:12787392|REF_RGD_ID:2317694 12143704 IRF1 interferon regulatory factor 1 gene DOID:630 genetic disease ISO RGD:735989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143704 IRF1 interferon regulatory factor 1 gene DOID:850 lung disease ISO RGD:2920 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:11880315|REF_RGD_ID:5128716 12143704 IRF1 interferon regulatory factor 1 gene DOID:8736 smallpox treatment ISO RGD:735989 D RGD:9068941 20210305 RGD DNA:SNPs,haplotype: :rs839, rs9282763(human) PMID:18454680|REF_RGD_ID:42722608 12143704 IRF1 interferon regulatory factor 1 gene DOID:874 bacterial pneumonia ISO RGD:10815 D RGD:9068941 20200609 RGD PMID:11854220|REF_RGD_ID:5128725 12143704 IRF1 interferon regulatory factor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2920 D RGD:9068941 20200609 RGD PMID:11723173|REF_RGD_ID:2298928 12143704 IRF1 interferon regulatory factor 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735989 D RGD:9068941 20220217 CTD CTD Direct Evidence: marker/mechanism 12143704 IRF1 interferon regulatory factor 1 gene DOID:9000998 Brain Injuries ISO RGD:2920 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:12503083|REF_RGD_ID:2317873 12143704 IRF1 interferon regulatory factor 1 gene DOID:9000998 Brain Injuries ISO RGD:735989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 12143704 IRF1 interferon regulatory factor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2920 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:12437578|REF_RGD_ID:632385 12143704 IRF1 interferon regulatory factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12143704 IRF1 interferon regulatory factor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:735989 D RGD:7240710 20180130 OMIM 12143704 IRF1 interferon regulatory factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735989 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12143704 IRF1 interferon regulatory factor 1 gene DOID:9007096 Stroke ISO RGD:735989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 12143704 IRF1 interferon regulatory factor 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:735989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12143704 IRF1 interferon regulatory factor 1 gene DOID:9008680 Respiratory Tract Infections ISO RGD:10815 D RGD:9068941 20200609 RGD PMID:10497103|REF_RGD_ID:5128721 12143718 RPRD1A regulation of nuclear pre-mRNA domain containing 1A gene DOID:1059 intellectual disability ISO RGD:1605654 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12143718 RPRD1A regulation of nuclear pre-mRNA domain containing 1A gene DOID:630 genetic disease ISO RGD:1605654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143734 ZNF674 zinc finger protein 674 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1602785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 12143734 ZNF674 zinc finger protein 674 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12143734 ZNF674 zinc finger protein 674 gene DOID:12849 autistic disorder ISO RGD:1602785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12143734 ZNF674 zinc finger protein 674 gene DOID:630 genetic disease ISO RGD:1602785 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12143734 ZNF674 zinc finger protein 674 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12143734 ZNF674 zinc finger protein 674 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1602785 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:16385466 12143734 ZNF674 zinc finger protein 674 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1602785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 12143768 CATSPERZ catsper channel auxiliary subunit zeta gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:2302458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12143768 CATSPERZ catsper channel auxiliary subunit zeta gene DOID:1059 intellectual disability ISO RGD:2302458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12143768 CATSPERZ catsper channel auxiliary subunit zeta gene DOID:3070 high grade glioma ISO RGD:2302458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12143768 CATSPERZ catsper channel auxiliary subunit zeta gene DOID:630 genetic disease ISO RGD:2302458 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143844 ZNF793 zinc finger protein 793 gene DOID:630 genetic disease ISO RGD:1602030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143844 ZNF793 zinc finger protein 793 gene DOID:9206 Barrett's esophagus ISO RGD:1602030 D RGD:9068941 20200609 RGD DNA:hypermethylation:esophageal squamous epithelium PMID:26545406|REF_RGD_ID:11552890 12143874 FEZF2 FEZ family zinc finger 2 gene DOID:630 genetic disease ISO RGD:1346685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143884 ICOSLG inducible T cell costimulator ligand gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1354040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 12143884 ICOSLG inducible T cell costimulator ligand gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1354040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12143884 ICOSLG inducible T cell costimulator ligand gene DOID:0110266 cataract 9 multiple types ISO RGD:1354040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12143884 ICOSLG inducible T cell costimulator ligand gene DOID:0111962 combined immunodeficiency ISO RGD:1354040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25741868|PMID:30498080 12143884 ICOSLG inducible T cell costimulator ligand gene DOID:10608 celiac disease ISO RGD:1354040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 12143884 ICOSLG inducible T cell costimulator ligand gene DOID:12849 autistic disorder ISO RGD:1354040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12143884 ICOSLG inducible T cell costimulator ligand gene DOID:630 genetic disease ISO RGD:1354040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12143884 ICOSLG inducible T cell costimulator ligand gene DOID:8577 ulcerative colitis ISO RGD:1354040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 12143884 ICOSLG inducible T cell costimulator ligand gene DOID:891 progressive myoclonus epilepsy ISO RGD:1354040 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12143884 ICOSLG inducible T cell costimulator ligand gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12143884 ICOSLG inducible T cell costimulator ligand gene DOID:9263 homocystinuria ISO RGD:1354040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12143884 ICOSLG inducible T cell costimulator ligand gene DOID:9562 primary ciliary dyskinesia ISO RGD:1354040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12143895 PFDN2 prefoldin subunit 2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1349968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12143895 PFDN2 prefoldin subunit 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1349968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12143895 PFDN2 prefoldin subunit 2 gene DOID:630 genetic disease ISO RGD:1349968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143895 PFDN2 prefoldin subunit 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12143903 SAMD8 sterile alpha motif domain containing 8 gene DOID:630 genetic disease ISO RGD:1315069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143903 SAMD8 sterile alpha motif domain containing 8 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1315069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 12143922 PRELID3A PRELI domain containing 3A gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1315398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12143922 PRELID3A PRELI domain containing 3A gene DOID:1059 intellectual disability ISO RGD:1315398 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12143922 PRELID3A PRELI domain containing 3A gene DOID:543 dystonia ISO RGD:1315398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 12143922 PRELID3A PRELI domain containing 3A gene DOID:630 genetic disease ISO RGD:1315398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143943 TMPRSS11D transmembrane serine protease 11D gene DOID:0080599 Coronavirus infectious disease ISO RGD:1606328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24227843 12143943 TMPRSS11D transmembrane serine protease 11D gene DOID:2945 severe acute respiratory syndrome ISO RGD:1606328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24227843 12143943 TMPRSS11D transmembrane serine protease 11D gene DOID:630 genetic disease ISO RGD:1606328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143943 TMPRSS11D transmembrane serine protease 11D gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1606328 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12143943 TMPRSS11D transmembrane serine protease 11D gene DOID:9001488 Human Influenza ISO RGD:1606328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20237084|PMID:23072892 12143943 TMPRSS11D transmembrane serine protease 11D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12143955 PTGES3 prostaglandin E synthase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1606321 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12143955 PTGES3 prostaglandin E synthase 3 gene DOID:1612 breast cancer ISO RGD:1606321 D RGD:9068941 20200609 RGD protein:increased expression:breast tumor cell, cytoplasm (human) PMID:20847343|REF_RGD_ID:5688064 12143955 PTGES3 prostaglandin E synthase 3 gene DOID:1936 atherosclerosis ISO RGD:1606321 D RGD:9068941 20200609 RGD protein:decreased expression:mammary arteries (human) PMID:14736553|REF_RGD_ID:5688075 12143955 PTGES3 prostaglandin E synthase 3 gene DOID:3181 oligodendroglioma ISO RGD:1606321 D RGD:9068941 20200609 RGD protein:increased expression:brain cortex, white matter (human) PMID:19347995|REF_RGD_ID:5688067 12143955 PTGES3 prostaglandin E synthase 3 gene DOID:3602 toxic encephalopathy ISO RGD:1606321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29471019 12143955 PTGES3 prostaglandin E synthase 3 gene DOID:630 genetic disease ISO RGD:1606321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143955 PTGES3 prostaglandin E synthase 3 gene DOID:9002211 Hyperalgesia ISO RGD:1561913 D RGD:9068941 20200609 RGD PMID:16192391|REF_RGD_ID:5688057 12143955 PTGES3 prostaglandin E synthase 3 gene DOID:9002457 Experimental Arthritis ISO RGD:1561913 D RGD:9068941 20200609 RGD mRNA:increased expression:paw (rat) PMID:12707354|REF_RGD_ID:2300108 12143967 C37H2orf88 chromosome 37 C2orf88 homolog gene DOID:0111072 myostatin-related muscle hypertrophy ISO RGD:1601946 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Myostatin-related muscle hypertrophy PMID:10610713|PMID:11555072|PMID:15215484|PMID:19232494|PMID:20301671|PMID:21283721|PMID:24479661|PMID:28492532 12143967 C37H2orf88 chromosome 37 C2orf88 homolog gene DOID:0111944 immunodeficiency 31B ISO RGD:1601946 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 12143967 C37H2orf88 chromosome 37 C2orf88 homolog gene DOID:630 genetic disease ISO RGD:1601946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143967 C37H2orf88 chromosome 37 C2orf88 homolog gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1601946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12143967 C37H2orf88 chromosome 37 C2orf88 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12143991 HCRTR2 hypocretin receptor 2 gene DOID:4195 hyperglycemia treatment ISO RGD:2788 D RGD:9068941 20200609 RGD associated with Obesity PMID:12217430|REF_RGD_ID:1358430 12143991 HCRTR2 hypocretin receptor 2 gene DOID:630 genetic disease ISO RGD:1351591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12143991 HCRTR2 hypocretin receptor 2 gene DOID:8986 narcolepsy IAGP D RGD:12801476 20210922 OMIA Narcolepsy PMID:2557958|PMID:1689603|PMID:2563354|PMID:1972749|PMID:1645207|PMID:1673032|PMID:1831837|PMID:1687464|PMID:1455131|PMID:1393561|PMID:8095546|PMID:8095066|PMID:8275992|PMID:8008205|PMID:8008206|PMID:7991953|PMID:7701206|PMID:7701203|PMID:7623112|PMID:7579139|PMID:8746387|PMID:8764647|PMID:8891251|PMID:8905685|PMID:9050784|PMID:9185233|PMID:9377531|PMID:9236248|PMID:9462456|PMID:9481825|PMID:9870955|PMID:9987919|PMID:10458611|PMID:10552257|PMID:11282968|PMID:11442359|PMID:11682143|PMID:12044453|PMID:12846289|PMID:14746368|PMID:15308685|PMID:19689311|PMID:18714784|PMID:17873267|PMID:4736237|PMID:4472992|PMID:945254|PMID:562026|PMID:72649|PMID:574310|PMID:6996290|PMID:7199479|PMID:6188216|PMID:6539848|PMID:3010425|PMID:3704431|PMID:3704433|PMID:3704445|PMID:3775753|PMID:3828787|PMID:2523880|PMID:10471483|PMID:23582416|PMID:33556640|PMID:33313880 12144002 TCOF1 treacle ribosome biogenesis factor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1320415 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12144002 TCOF1 treacle ribosome biogenesis factor 1 gene DOID:0080789 Treacher Collins syndrome 1 ISO RGD:1320415 D RGD:7240710 20200708 OMIM 12144002 TCOF1 treacle ribosome biogenesis factor 1 gene DOID:0080789 Treacher Collins syndrome 1 ISO RGD:1320415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Treacher Collins syndrome 1 PMID:10982400|PMID:11013442|PMID:12114482|PMID:12444270|PMID:14598341|PMID:15150774|PMID:15214011|PMID:15340364|PMID:16199547|PMID:17576681|PMID:19050407|PMID:20003452|PMID:21951868|PMID:2231797|PMID:22317976|PMID:23967202|PMID:24108658|PMID:24994558|PMID:25741868|PMID:25790162|PMID:26467025|PMID:28065470|PMID:28419064|PMID:28492532|PMID:29230583|PMID:30311386|PMID:31307516|PMID:32257192|PMID:33332773|PMID:8563749|PMID:8894686|PMID:9042910|PMID:9096354|PMID:9536098|PMID:9736782|PMID:9811939 12144002 TCOF1 treacle ribosome biogenesis factor 1 gene DOID:10907 microcephaly ISO RGD:1320415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12144002 TCOF1 treacle ribosome biogenesis factor 1 gene DOID:2339 Crouzon syndrome ISO RGD:1320415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Crouzon syndrome PMID:25741868 12144002 TCOF1 treacle ribosome biogenesis factor 1 gene DOID:2908 Treacher Collins syndrome ISO RGD:1320415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Treacher Collins Syndrome, Dominant | ClinVar Annotator: match by term: Treacher Collins syndrome PMID:22317976|PMID:25741868|PMID:28492532|PMID:8894686 12144002 TCOF1 treacle ribosome biogenesis factor 1 gene DOID:630 genetic disease ISO RGD:1320415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12144002 TCOF1 treacle ribosome biogenesis factor 1 gene DOID:9004538 Hearing Loss ISO RGD:1320415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:28492532|PMID:30311386 12144002 TCOF1 treacle ribosome biogenesis factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320415 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12144002 TCOF1 treacle ribosome biogenesis factor 1 gene DOID:9008003 Mandibulofacial Dysostosis ISO RGD:1320415 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16938878 12144002 TCOF1 treacle ribosome biogenesis factor 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320415 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16938878 12144031 ZFP2 ZFP2 zinc finger protein gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12144031 ZFP2 ZFP2 zinc finger protein gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1604799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12144031 ZFP2 ZFP2 zinc finger protein gene DOID:0112103 Sotos syndrome 1 ISO RGD:1604799 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12144031 ZFP2 ZFP2 zinc finger protein gene DOID:630 genetic disease ISO RGD:1604799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144079 AGMO alkylglycerol monooxygenase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12144079 AGMO alkylglycerol monooxygenase gene DOID:630 genetic disease ISO RGD:1606863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12144097 JRKL JRK like gene DOID:1059 intellectual disability ISO RGD:1319078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12144097 JRKL JRK like gene DOID:12704 ataxia telangiectasia ISO RGD:1319078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12144097 JRKL JRK like gene DOID:630 genetic disease ISO RGD:1319078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144102 PDK1 pyruvate dehydrogenase kinase 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:69480 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12144102 PDK1 pyruvate dehydrogenase kinase 1 gene DOID:630 genetic disease ISO RGD:69480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144117 EDEM2 ER degradation enhancing alpha-mannosidase like protein 2 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1354312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young 12144117 EDEM2 ER degradation enhancing alpha-mannosidase like protein 2 gene DOID:2843 long QT syndrome ISO RGD:1354312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12144117 EDEM2 ER degradation enhancing alpha-mannosidase like protein 2 gene DOID:5419 schizophrenia ISO RGD:1354312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12144117 EDEM2 ER degradation enhancing alpha-mannosidase like protein 2 gene DOID:630 genetic disease ISO RGD:1354312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144132 ZCCHC8 zinc finger CCHC-type containing 8 gene DOID:1059 intellectual disability ISO RGD:1320291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12144132 ZCCHC8 zinc finger CCHC-type containing 8 gene DOID:630 genetic disease ISO RGD:1320291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12144132 ZCCHC8 zinc finger CCHC-type containing 8 gene DOID:9009112 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 5 ISO RGD:1320291 D RGD:7240710 20191211 OMIM 12144132 ZCCHC8 zinc finger CCHC-type containing 8 gene DOID:9009112 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 5 ISO RGD:1320291 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 PMID:25741868|PMID:28492532|PMID:31488579 12144154 SLC9A1 solute carrier family 9 member A1 gene DOID:0080065 autosomal recessive spinocerebellar ataxia 19 ISO RGD:736585 D RGD:7240710 20180130 OMIM 12144154 SLC9A1 solute carrier family 9 member A1 gene DOID:0080065 autosomal recessive spinocerebellar ataxia 19 ISO RGD:736585 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome PMID:25205112|PMID:25741868|PMID:28492532|PMID:30018422 12144154 SLC9A1 solute carrier family 9 member A1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19111554 12144154 SLC9A1 solute carrier family 9 member A1 gene DOID:1459 hypothyroidism ISO RGD:3718 D RGD:9068941 20200609 RGD protein:decreased expression:heart, microsome PMID:12039959|REF_RGD_ID:625494 12144154 SLC9A1 solute carrier family 9 member A1 gene DOID:1591 renovascular hypertension treatment ISO RGD:3718 D RGD:9068941 20200609 RGD PMID:12218313|REF_RGD_ID:727424 12144154 SLC9A1 solute carrier family 9 member A1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3718 D RGD:9068941 20200609 RGD PMID:31250553|REF_RGD_ID:14985213 12144154 SLC9A1 solute carrier family 9 member A1 gene DOID:576 proteinuria ISO RGD:3718 D RGD:9068941 20200609 RGD PMID:31250553|REF_RGD_ID:14985213 12144154 SLC9A1 solute carrier family 9 member A1 gene DOID:6000 congestive heart failure ISO RGD:736585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19027022 12144154 SLC9A1 solute carrier family 9 member A1 gene DOID:6000 congestive heart failure ISO RGD:736585 D RGD:9068941 20200609 RGD PMID:18776042|REF_RGD_ID:6771337 12144154 SLC9A1 solute carrier family 9 member A1 gene DOID:630 genetic disease ISO RGD:736585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:30018422 12144154 SLC9A1 solute carrier family 9 member A1 gene DOID:7998 hyperthyroidism ISO RGD:3718 D RGD:9068941 20200609 RGD protein:increased expression:heart, microsome PMID:12039959|REF_RGD_ID:625494 12144154 SLC9A1 solute carrier family 9 member A1 gene DOID:83 cataract ISO RGD:3718 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22407349|REF_RGD_ID:8693684 12144154 SLC9A1 solute carrier family 9 member A1 gene DOID:9000197 Edema ISO RGD:736585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20553904 12144154 SLC9A1 solute carrier family 9 member A1 gene DOID:9000641 Pain ISO RGD:736585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19248819 12144154 SLC9A1 solute carrier family 9 member A1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:3718 D RGD:9068941 20200609 RGD PMID:19384202|REF_RGD_ID:6771334 12144154 SLC9A1 solute carrier family 9 member A1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:736585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17724433 12144154 SLC9A1 solute carrier family 9 member A1 gene DOID:9002661 Diabetes Complications ISO RGD:3718 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18057998|REF_RGD_ID:6771339 12144154 SLC9A1 solute carrier family 9 member A1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:3718 D RGD:9068941 20200609 RGD PMID:20883671|REF_RGD_ID:6771331 12144154 SLC9A1 solute carrier family 9 member A1 gene DOID:9004009 Reperfusion Injury ISO RGD:3718 D RGD:9068941 20200609 RGD PMID:20337040|REF_RGD_ID:6771332 12144154 SLC9A1 solute carrier family 9 member A1 gene DOID:9004009 Reperfusion Injury ISO RGD:736585 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19027022 12144154 SLC9A1 solute carrier family 9 member A1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3718 D RGD:9068941 20200609 RGD associated with Hypertension PMID:19179646|REF_RGD_ID:6771336 12144154 SLC9A1 solute carrier family 9 member A1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20003708 12144154 SLC9A1 solute carrier family 9 member A1 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3718 D RGD:9068941 20200609 RGD mRNA:increased expression:right ventricle myocardium PMID:22588937|REF_RGD_ID:6771239 12144154 SLC9A1 solute carrier family 9 member A1 gene DOID:9007102 Myocardial Ischemia ISO RGD:3718 D RGD:9068941 20200609 RGD PMID:17356886|REF_RGD_ID:1625560 12144154 SLC9A1 solute carrier family 9 member A1 gene DOID:9007174 Ventricular Remodeling ISO RGD:736585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20886221 12144154 SLC9A1 solute carrier family 9 member A1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3718 D RGD:9068941 20200609 RGD PMID:22803959|REF_RGD_ID:6771238 12144154 SLC9A1 solute carrier family 9 member A1 gene DOID:9206 Barrett's esophagus ISO RGD:736585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127259 12144154 SLC9A1 solute carrier family 9 member A1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3718 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart PMID:22009485|REF_RGD_ID:6771327 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:0060180 colitis treatment ISO RGD:734432 D RGD:9068941 20210312 RGD PMID:30142311|REF_RGD_ID:42724458 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25294219 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:23592516|REF_RGD_ID:10412712 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:25385666|REF_RGD_ID:21201312 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:0081292 traumatic brain injury ISO RGD:620360 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:30855558|REF_RGD_ID:26884463 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:734431 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:10247 pleurisy ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:14673141|REF_RGD_ID:6893408 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:734432 D RGD:9068941 20200609 RGD protein:increased expression:brain, nucleus PMID:23771816|REF_RGD_ID:10412683 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:10652 Alzheimer's disease onset ISO RGD:734431 D RGD:9068941 20200609 RGD DNA:snps, haplotype:5' utr, intron:multiple (human) PMID:20064547|REF_RGD_ID:6893326 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:10652 Alzheimer's disease treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:22913737|REF_RGD_ID:10412685 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:10652 Alzheimer's disease treatment ISO RGD:734431 D RGD:9068941 20200609 RGD PMID:19805328|REF_RGD_ID:10412689 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:10763 hypertension ISO RGD:734431 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32165127 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:10763 hypertension treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:23775684|REF_RGD_ID:10412717 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:10923 sickle cell anemia ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29255069 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:11832 visual epilepsy ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:24333359|REF_RGD_ID:10412723 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:11832 visual epilepsy treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:24333359|REF_RGD_ID:10412723 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:12236 primary biliary cholangitis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:12306 vitiligo ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28836394 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:12858 Huntington's disease ISO RGD:620360 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum PMID:24008671|REF_RGD_ID:10412688 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:1324 lung cancer ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:13580 cholestasis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20977460 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:13619 extrahepatic cholestasis treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:31900718|REF_RGD_ID:21201303 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:161 keratosis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20404090 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:1749 squamous cell carcinoma ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:2671 transitional cell carcinoma ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011|PMID:29018201 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:2841 asthma severity ISO RGD:734431 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchoalveolar lavage cell, peripheral blood mononuclear cell (human) PMID:21514635|REF_RGD_ID:6893376 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:3021 acute kidney failure ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24958931 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:3021 acute kidney failure treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:24291173|REF_RGD_ID:10412697 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:3042 allergic contact dermatitis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23564646 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:620360 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:22737924|REF_RGD_ID:10412732 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:734431 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:18556627|REF_RGD_ID:5134980 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:734431 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:primary motor cortex, spinal cord (human) PMID:18957896|REF_RGD_ID:6893397 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:734431 D RGD:9068941 20210604 CTD CTD Direct Evidence: therapeutic PMID:27012417 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:22056419|REF_RGD_ID:10412690 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:23880501|PMID:24466583|REF_RGD_ID:10412696|REF_RGD_ID:10412714 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489257 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:3602 toxic encephalopathy ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20211941 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:363 uterine cancer ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26619011 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:19138753|REF_RGD_ID:6893396 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23570914 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26619011|PMID:29018201 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:734431 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:22684020|PMID:26482881|PMID:33148531 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:3910 lung adenocarcinoma ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:26619011|PMID:29018201 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:399 tuberculosis treatment ISO RGD:734431 D RGD:9068941 20210305 RGD DNA:SNPs,haplotype: :rs4243387,rs2001350,rs6726395(human) PMID:31586142|REF_RGD_ID:42722614 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:4195 hyperglycemia ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20086057 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:4448 macular degeneration ISO RGD:734431 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron:28312647A>G (rs6726395) (human) PMID:23276910|REF_RGD_ID:7771558 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:4448 macular degeneration ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:21559389|REF_RGD_ID:10412682 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:4450 renal cell carcinoma ISO RGD:734431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:26619011 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:5082 liver cirrhosis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23793039 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:5082 liver cirrhosis treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:22732220|REF_RGD_ID:10412731 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247513 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:26619011|PMID:29018201 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:557 kidney disease ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20605904 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:5844 myocardial infarction ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:24915518|REF_RGD_ID:10412738 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:5844 myocardial infarction treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:23290949|REF_RGD_ID:10412734 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:6000 congestive heart failure ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:29373037|REF_RGD_ID:26923905 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:6000 congestive heart failure ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28373008 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:630 genetic disease ISO RGD:734431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:26619011|PMID:29018201 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:77 gastrointestinal system disease ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20404090 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:784 chronic kidney disease treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:23174956|REF_RGD_ID:10412711 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:83 cataract disease_progression ISO RGD:734431 D RGD:9068941 20200609 RGD DNA:snps, haplotype:5' utr, intron:multiple (human) PMID:20064547|REF_RGD_ID:6893326 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:850 lung disease ISO RGD:734432 D RGD:9068941 20200609 RGD acute lung injury associated with brain injuries PMID:19176347|REF_RGD_ID:5134977 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:8704 genital herpes ameliorates ISO RGD:734432 D RGD:9068941 20210305 RGD PMID:31555293|REF_RGD_ID:42722615 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:8947 diabetic retinopathy ISO RGD:620360 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased activity:retina PMID:23633659|REF_RGD_ID:10412733 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:24747453|REF_RGD_ID:10412730 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9000099 Experimental Colitis treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:22350949|REF_RGD_ID:10412739 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9000352 Vascular System Injuries ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19234301 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:22304528|REF_RGD_ID:10412722 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9000918 Disease Progression ISO RGD:734431 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32621833 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:734431 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32682831 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9000998 Brain Injuries ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:25089700|REF_RGD_ID:11576302 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9000998 Brain Injuries ISO RGD:620360 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:18787991|REF_RGD_ID:5134971 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9001285 Alcoholic Liver Diseases severity ISO RGD:734431 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs35652124(human) PMID:31340446|REF_RGD_ID:21201311 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:31906014|REF_RGD_ID:21201307 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23341968 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9001614 Chronic Tubulointerstitial Nephropathy ISO RGD:620360 D RGD:9068941 20200609 RGD protein:decreased localization:nucleus PMID:23512109|REF_RGD_ID:10412728 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29353218 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9001916 Fetal Death ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29255069 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:22288937|PMID:31952110|REF_RGD_ID:10403073|REF_RGD_ID:21201304 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:21439372|REF_RGD_ID:6893386 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20103708 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:620360 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23064900|REF_RGD_ID:10412718 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9002221 Hyperplasia ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19234301 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:620360 D RGD:9068941 20200609 RGD protein:decreased expression:placenta PMID:25171874|REF_RGD_ID:26884462 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:734431 D RGD:9068941 20200609 RGD protein:decreased expression:placenta PMID:25171874|REF_RGD_ID:26884462 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:23910525|REF_RGD_ID:10412716 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20124447|PMID:23441843 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9002644 Premature Aging treatment ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:19443193|REF_RGD_ID:10412691 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9002720 Splenomegaly ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29255069 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19910389 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9002802 Acidoses ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29618784 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9002884 Emphysema ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20133372 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:26619011|PMID:29018201 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9003386 Sunburn ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:18200051|REF_RGD_ID:6893371 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9004203 Chromosome Breakage ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27774770 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9004250 Hepatic Insufficiency ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9004464 Skin Neoplasms ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:734431 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32682831 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9004610 Acute Lung Injury ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24812154 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9004634 Cardiac Output, Low ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30096613 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:22072621|REF_RGD_ID:10412719 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9005369 Hepatomegaly ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9005369 Hepatomegaly ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:32105670|REF_RGD_ID:21201282 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620360 D RGD:9068941 20200609 RGD protein:increased localization:blood, mononuclear cell, nucleus PMID:23331247|REF_RGD_ID:7244270 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:22869588|REF_RGD_ID:10412694 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:24740568|REF_RGD_ID:10412720 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9005749 Necrosis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24813929 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9005930 Endotoxemia treatment ISO RGD:620360 D RGD:9068941 20210305 RGD PMID:26646455|REF_RGD_ID:42722616 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9006205 Animal Disease Models ISO RGD:734431 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:27012417|PMID:29255069 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:620360 D RGD:9068941 20230128 RGD PMID:31089916|REF_RGD_ID:155882543 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27774770 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20605904 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:734432 D RGD:9068941 20230302 RGD PMID:36044268|REF_RGD_ID:156430337 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:620360 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23453443|REF_RGD_ID:10412713 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:734432 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23353773|REF_RGD_ID:10412721 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:734431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:26619011 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29353218 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9007188 Liver Neoplasms ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20722399 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22491424|PMID:22627062|PMID:24813929|PMID:26958860|PMID:30215777 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:18417483|REF_RGD_ID:6893370 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:29091898|PMID:31972209|PMID:32066295|REF_RGD_ID:15090820|REF_RGD_ID:21201280|REF_RGD_ID:21201283 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:620360 D RGD:9068941 20200609 RGD induced by methotrexate (CHEBI:44185), treated by ferulic acid (CHEBI:17620) PMID:31889292|REF_RGD_ID:21201308 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:29091898|PMID:31927046|REF_RGD_ID:15090820|REF_RGD_ID:21201305 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:734431 D RGD:9068941 20220407 CTD CTD Direct Evidence: therapeutic PMID:35124418 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9007692 Insulin Resistance ISO RGD:734431 D RGD:9068941 20200609 RGD associated with obesity; protein:decreased expression:hepatocyte: PMID:32102936|REF_RGD_ID:21201281 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9007702 Carcinogenesis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29228771 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20530669 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:24915518|REF_RGD_ID:10412738 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:734431 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32621833 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9009072 IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA ISO RGD:734431 D RGD:7240710 20190315 OMIM 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9009072 IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA ISO RGD:734431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency, developmental delay, and hypohomocysteinemia PMID:24130096|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29018201|PMID:31107239 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9146 visceral leishmaniasis treatment ISO RGD:734431 D RGD:9068941 20210312 RGD PMID:23729024|REF_RGD_ID:42724459 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9256 colorectal cancer ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:29018201 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9256 colorectal cancer treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:22859375|REF_RGD_ID:10412740 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:23954466|REF_RGD_ID:10412692 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9452 fatty liver disease ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28555106 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9452 fatty liver disease ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:22367278|REF_RGD_ID:6893372 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9675 pulmonary emphysema ISO RGD:734431 D RGD:9068941 20200609 RGD protein:decreased expression:lung: PMID:18559366|REF_RGD_ID:5134973 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9970 obesity ISO RGD:734431 D RGD:9068941 20200609 RGD protein:decreased expression:hepatocyte: PMID:32102936|REF_RGD_ID:21201281 12144170 NFE2L2 NFE2 like bZIP transcription factor 2 gene DOID:9970 obesity ISO RGD:734432 D RGD:9068941 20200609 RGD protein:decreased expression:liver macrophage: PMID:32102936|REF_RGD_ID:21201281 12144182 APOA2 apolipoprotein A2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:737360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12144182 APOA2 apolipoprotein A2 gene DOID:13809 familial combined hyperlipidemia ISO RGD:737360 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:12738753|REF_RGD_ID:1300287 12144182 APOA2 apolipoprotein A2 gene DOID:13810 familial hypercholesterolemia ISO RGD:737360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:12522687 12144182 APOA2 apolipoprotein A2 gene DOID:1540 parathyroid carcinoma ISO RGD:737360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12144182 APOA2 apolipoprotein A2 gene DOID:3393 coronary artery disease ISO RGD:737360 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17923573|REF_RGD_ID:2313956 12144182 APOA2 apolipoprotein A2 gene DOID:630 genetic disease ISO RGD:737360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144182 APOA2 apolipoprotein A2 gene DOID:684 hepatocellular carcinoma ISO RGD:737360 D RGD:9068941 20220908 RGD associated with hepatitis B; mRNA:increased expression:liver PMID:31211449|REF_RGD_ID:153350082 12144182 APOA2 apolipoprotein A2 gene DOID:7998 hyperthyroidism ISO RGD:2131 D RGD:9068941 20200609 RGD PMID:1466661|REF_RGD_ID:1599158 12144182 APOA2 apolipoprotein A2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737360 D RGD:9068941 20200609 RGD PMID:9829487|REF_RGD_ID:2313960 12144182 APOA2 apolipoprotein A2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737360 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum PMID:11126402|REF_RGD_ID:2313958 12144182 APOA2 apolipoprotein A2 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:737360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12522687 12144182 APOA2 apolipoprotein A2 gene DOID:9006599 Hypertriglyceridemia ISO RGD:737360 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:9489233|REF_RGD_ID:1601190 12144182 APOA2 apolipoprotein A2 gene DOID:9006646 Metabolic Syndrome ISO RGD:737360 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19817643|REF_RGD_ID:2313955 12144182 APOA2 apolipoprotein A2 gene DOID:9006700 APOLIPOPROTEIN A-II DEFICIENCY ISO RGD:737360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Apolipoprotein A-II deficiency 12144182 APOA2 apolipoprotein A2 gene DOID:9007692 Insulin Resistance ISO RGD:732677 D RGD:9068941 20200609 RGD PMID:11246886|REF_RGD_ID:2313957 12144182 APOA2 apolipoprotein A2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12144182 APOA2 apolipoprotein A2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737360 D RGD:9068941 20200609 RGD protein:altered localization:plasma lipoprotein particle PMID:9649952|REF_RGD_ID:2313961 12144182 APOA2 apolipoprotein A2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737360 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19817643|REF_RGD_ID:2313955 12144182 APOA2 apolipoprotein A2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737360 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:9578960|REF_RGD_ID:2313962 12144182 APOA2 apolipoprotein A2 gene DOID:9970 obesity ISO RGD:732677 D RGD:9068941 20200609 RGD PMID:9933608|REF_RGD_ID:2313959 12144182 APOA2 apolipoprotein A2 gene DOID:9970 obesity ISO RGD:737360 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9002300|REF_RGD_ID:1601191 12144190 GGPS1 geranylgeranyl diphosphate synthase 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1343459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:32403198 12144190 GGPS1 geranylgeranyl diphosphate synthase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1343459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12144190 GGPS1 geranylgeranyl diphosphate synthase 1 gene DOID:630 genetic disease ISO RGD:1343459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144190 GGPS1 geranylgeranyl diphosphate synthase 1 gene DOID:9006229 MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME ISO RGD:1343459 D RGD:7240710 20211027 OMIM 12144190 GGPS1 geranylgeranyl diphosphate synthase 1 gene DOID:9006229 MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME ISO RGD:1343459 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome PMID:25741868|PMID:32403198|PMID:35869884 12144190 GGPS1 geranylgeranyl diphosphate synthase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12144208 MGRN1 mahogunin ring finger 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1353673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12144208 MGRN1 mahogunin ring finger 1 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1353673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 12144208 MGRN1 mahogunin ring finger 1 gene DOID:1826 epilepsy ISO RGD:1353673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12144208 MGRN1 mahogunin ring finger 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1353673 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12144208 MGRN1 mahogunin ring finger 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1353673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12144208 MGRN1 mahogunin ring finger 1 gene DOID:2018 hyperinsulinism ISO RGD:1558478 D RGD:9068941 20200609 RGD PMID:16638826|REF_RGD_ID:1641947 12144208 MGRN1 mahogunin ring finger 1 gene DOID:4195 hyperglycemia ISO RGD:1558478 D RGD:9068941 20200609 RGD PMID:16638826|REF_RGD_ID:1641947 12144208 MGRN1 mahogunin ring finger 1 gene DOID:630 genetic disease ISO RGD:1353673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144208 MGRN1 mahogunin ring finger 1 gene DOID:9970 obesity ISO RGD:1558478 D RGD:9068941 20200609 RGD PMID:16638826|REF_RGD_ID:1641947 12144233 EDEM3 ER degradation enhancing alpha-mannosidase like protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1353394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12144233 EDEM3 ER degradation enhancing alpha-mannosidase like protein 3 gene DOID:630 genetic disease ISO RGD:1353394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144233 EDEM3 ER degradation enhancing alpha-mannosidase like protein 3 gene DOID:9005531 Congenital Disorder of Glycosylation Type IIv ISO RGD:1353394 D RGD:7240710 20210908 OMIM 12144233 EDEM3 ER degradation enhancing alpha-mannosidase like protein 3 gene DOID:9005531 Congenital Disorder of Glycosylation Type IIv ISO RGD:1353394 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type 2v PMID:25741868|PMID:34143952 12144233 EDEM3 ER degradation enhancing alpha-mannosidase like protein 3 gene DOID:9007661 Dwarfism ISO RGD:1353394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12144233 EDEM3 ER degradation enhancing alpha-mannosidase like protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12144269 CDC42BPA CDC42 binding protein kinase alpha gene DOID:0070241 primary coenzyme Q10 deficiency 4 ISO RGD:1351605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 PMID:24164873 12144269 CDC42BPA CDC42 binding protein kinase alpha gene DOID:0080600 COVID-19 ISO RGD:1351605 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12144269 CDC42BPA CDC42 binding protein kinase alpha gene DOID:1540 parathyroid carcinoma ISO RGD:1351605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12144269 CDC42BPA CDC42 binding protein kinase alpha gene DOID:630 genetic disease ISO RGD:1351605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144269 CDC42BPA CDC42 binding protein kinase alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12144332 TTC24 tetratricopeptide repeat domain 24 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12144332 TTC24 tetratricopeptide repeat domain 24 gene DOID:0111940 immunodeficiency 42 ISO RGD:1602975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12144332 TTC24 tetratricopeptide repeat domain 24 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1602975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12144332 TTC24 tetratricopeptide repeat domain 24 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1602975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12144332 TTC24 tetratricopeptide repeat domain 24 gene DOID:1540 parathyroid carcinoma ISO RGD:1602975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12144332 TTC24 tetratricopeptide repeat domain 24 gene DOID:5812 MHC class II deficiency ISO RGD:1602975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12144332 TTC24 tetratricopeptide repeat domain 24 gene DOID:630 genetic disease ISO RGD:1602975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144332 TTC24 tetratricopeptide repeat domain 24 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12144344 TLCD1 TLC domain containing 1 gene DOID:630 genetic disease ISO RGD:1602658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144352 IL3 interleukin 3 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:737391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 12144352 IL3 interleukin 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:737391 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12144352 IL3 interleukin 3 gene DOID:0081120 Graves ophthalmopathy ISO RGD:737391 D RGD:9068941 20200609 RGD DNA: SNP: : rs40401 PMID:20332709|REF_RGD_ID:5686901 12144352 IL3 interleukin 3 gene DOID:10652 Alzheimer's disease ISO RGD:737391 D RGD:9068941 20200609 RGD PMID:18769539|REF_RGD_ID:5686817 12144352 IL3 interleukin 3 gene DOID:10652 Alzheimer's disease ISO RGD:737391 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:17934472|REF_RGD_ID:5686815 12144352 IL3 interleukin 3 gene DOID:11132 prostatic hypertrophy ISO RGD:2897 D RGD:9068941 20200609 RGD mRNA: increased expression: prostate PMID:20945403|REF_RGD_ID:5684375 12144352 IL3 interleukin 3 gene DOID:11400 pyelonephritis ISO RGD:2897 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:18214547|REF_RGD_ID:2317665 12144352 IL3 interleukin 3 gene DOID:12361 Graves' disease ISO RGD:737391 D RGD:9068941 20200609 RGD DNA: SNP: : rs40401 PMID:20332709|REF_RGD_ID:5686901 12144352 IL3 interleukin 3 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:737391 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 12144352 IL3 interleukin 3 gene DOID:14566 disease of cellular proliferation ISO RGD:10793 D RGD:9068941 20200609 RGD DNA: mutations: multiple: Csf2,Il3,Ifng, strain dependent PMID:21537082|REF_RGD_ID:5686773 12144352 IL3 interleukin 3 gene DOID:1470 major depressive disorder ISO RGD:737391 D RGD:9068941 20200609 RGD mRNA: increased expression: BA10: frontal cortex PMID:20479761|REF_RGD_ID:5686897 12144352 IL3 interleukin 3 gene DOID:1588 thrombocytopenia ISO RGD:737391 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8202718 12144352 IL3 interleukin 3 gene DOID:1790 malignant mesothelioma ISO RGD:737391 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 12144352 IL3 interleukin 3 gene DOID:1793 pancreatic cancer ISO RGD:737391 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15843207|REF_RGD_ID:2317663 12144352 IL3 interleukin 3 gene DOID:2355 anemia ISO RGD:737391 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12090760|PMID:8202718 12144352 IL3 interleukin 3 gene DOID:2841 asthma susceptibility ISO RGD:737391 D RGD:9068941 20200609 RGD DNA:SNP: :rs40401(human) PMID:24684517|REF_RGD_ID:13506914 12144352 IL3 interleukin 3 gene DOID:2841 asthma susceptibility ISO RGD:737391 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:+79T>C(S27P)(human) PMID:15372320|REF_RGD_ID:13506916 12144352 IL3 interleukin 3 gene DOID:3347 osteosarcoma ISO RGD:2897 D RGD:9068941 20200609 RGD PMID:11268282|REF_RGD_ID:2317666 12144352 IL3 interleukin 3 gene DOID:4325 Ebola hemorrhagic fever ISO RGD:737391 D RGD:9068941 20200609 RGD protein: reduced expression: plasma PMID:20957152|REF_RGD_ID:5686879 12144352 IL3 interleukin 3 gene DOID:5419 schizophrenia ISO RGD:737391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12144352 IL3 interleukin 3 gene DOID:615 leukopenia ISO RGD:737391 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8202718 12144352 IL3 interleukin 3 gene DOID:630 genetic disease ISO RGD:737391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144352 IL3 interleukin 3 gene DOID:7148 rheumatoid arthritis ISO RGD:737391 D RGD:9068941 20200609 RGD DNA: SNPs: Multiple: gene-gene interaction PMID:20018070|REF_RGD_ID:5686905 12144352 IL3 interleukin 3 gene DOID:8704 genital herpes ISO RGD:737391 D RGD:9068941 20200609 RGD RNA: increased expression PMID:21175248|REF_RGD_ID:5686876 12144352 IL3 interleukin 3 gene DOID:8893 psoriasis ISO RGD:737391 D RGD:9068941 20200609 RGD protein: decreased expression PMID:19889595|REF_RGD_ID:5686909 12144352 IL3 interleukin 3 gene DOID:9000252 Allergic Rhinoconjunctivitis susceptibility ISO RGD:737391 D RGD:9068941 20200609 RGD DNA:SNP: :rs40401(human) PMID:23953855|REF_RGD_ID:13506915 12144352 IL3 interleukin 3 gene DOID:9000998 Brain Injuries ISO RGD:737391 D RGD:9068941 20200609 RGD protein: increased expression: brain: microdialysis perfusate PMID:20717122|REF_RGD_ID:5686886 12144352 IL3 interleukin 3 gene DOID:9000998 Brain Injuries disease_progression ISO RGD:2897 D RGD:9068941 20200609 RGD PMID:21515263|REF_RGD_ID:5686795 12144352 IL3 interleukin 3 gene DOID:9003369 Strongylida Infections ISO RGD:10793 D RGD:9068941 20200609 RGD PMID:20500666|REF_RGD_ID:5686890 12144352 IL3 interleukin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12144352 IL3 interleukin 3 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737391 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8202718 12144352 IL3 interleukin 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737391 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12144352 IL3 interleukin 3 gene DOID:9970 obesity ISO RGD:737391 D RGD:9068941 20200609 RGD protein: decreased expression: plasma PMID:21203453|REF_RGD_ID:5686875 12144392 DAAM2 dishevelled associated activator of morphogenesis 2 gene DOID:0111164 molybdenum cofactor deficiency type A ISO RGD:1314563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A 12144392 DAAM2 dishevelled associated activator of morphogenesis 2 gene DOID:0111165 molybdenum cofactor deficiency ISO RGD:1314563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency 12144392 DAAM2 dishevelled associated activator of morphogenesis 2 gene DOID:11476 osteoporosis ISO RGD:1314563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30598549 12144392 DAAM2 dishevelled associated activator of morphogenesis 2 gene DOID:630 genetic disease ISO RGD:1314563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144392 DAAM2 dishevelled associated activator of morphogenesis 2 gene DOID:9003441 Nephrotic Syndrome Type 24 ISO RGD:1314563 D RGD:7240710 20210414 OMIM 12144392 DAAM2 dishevelled associated activator of morphogenesis 2 gene DOID:9003441 Nephrotic Syndrome Type 24 ISO RGD:1314563 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 24 PMID:25741868|PMID:33232676 12144428 OSR2 odd-skipped related transciption factor 2 gene DOID:0111590 Cohen syndrome ISO RGD:1345615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12144428 OSR2 odd-skipped related transciption factor 2 gene DOID:289 endometriosis ISO RGD:1345615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12144428 OSR2 odd-skipped related transciption factor 2 gene DOID:630 genetic disease ISO RGD:1345615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144439 BRSK1 BR serine/threonine kinase 1 gene DOID:630 genetic disease ISO RGD:1353238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144465 MYO7A myosin VIIA gene DOID:0050439 Usher syndrome ISO RGD:732206 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16283880|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25262649|PMID:25333064|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26561413|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27208204|PMID:27344577|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28944237|PMID:28968992|PMID:29142287|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30881389|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:32097363|PMID:32428919|PMID:32747562|PMID:32860223|PMID:33111345|PMID:33187236|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356 12144465 MYO7A myosin VIIA gene DOID:0050439 Usher syndrome ISO RGD:732206 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22903915|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25262649|PMID:25333064|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26445815|PMID:26467025|PMID:26561413|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27208204|PMID:27344577|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28944237|PMID:28968992|PMID:29142287|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30881389|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:32097363|PMID:32428919|PMID:32747562|PMID:32860223|PMID:33111345|PMID:33187236|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356 12144465 MYO7A myosin VIIA gene DOID:0050439 Usher syndrome ISO RGD:732206 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29142287|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30881389|PMID:31035849|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:31836858|PMID:32097363|PMID:32428919|PMID:32467589|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33924653|PMID:35802133|PMID:36633841|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356 12144465 MYO7A myosin VIIA gene DOID:0050563 nonsyndromic deafness ISO RGD:732206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:10094549|PMID:10930322|PMID:15300860|PMID:15823922|PMID:16199547|PMID:22135276|PMID:23770805|PMID:23804846|PMID:24033266|PMID:25404053|PMID:25741868|PMID:26445815|PMID:26969326|PMID:27460420|PMID:27573290|PMID:28492532|PMID:30303587|PMID:30311386|PMID:32097363|PMID:8900236 12144465 MYO7A myosin VIIA gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:732206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:10094549|PMID:10425080|PMID:10447383|PMID:10930322|PMID:12112664|PMID:15043528|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:18181211|PMID:19074810|PMID:20052763|PMID:21311020|PMID:21436283|PMID:21569298|PMID:21873662|PMID:22135276|PMID:22898263|PMID:23451239|PMID:23591405|PMID:23770805|PMID:24033266|PMID:24194196|PMID:25404053|PMID:25468891|PMID:25558175|PMID:25741868|PMID:25798947|PMID:26226137|PMID:26791358|PMID:27344577|PMID:27460420|PMID:27573290|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29692870|PMID:30303587|PMID:30718709|PMID:31479088|PMID:33187236|PMID:33269433|PMID:8900236 12144465 MYO7A myosin VIIA gene DOID:0060744 Pendred syndrome ISO RGD:732206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:24033266|PMID:28492532|PMID:30311386|PMID:30718709 12144465 MYO7A myosin VIIA gene DOID:0080600 COVID-19 ISO RGD:732206 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12144465 MYO7A myosin VIIA gene DOID:0110477 autosomal recessive nonsyndromic deafness 2 ISO RGD:732206 D RGD:7240710 20180130 OMIM 12144465 MYO7A myosin VIIA gene DOID:0110477 autosomal recessive nonsyndromic deafness 2 ISO RGD:732206 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 2 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2 PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:11391666|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19375528|PMID:19683999|PMID:19888295|PMID:20052763|PMID:20132242|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27013738|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29099798|PMID:29142287|PMID:29178603|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390570|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30881389|PMID:31035849|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:32097363|PMID:32428919|PMID:32467589|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33089500|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33924653|PMID:35802133|PMID:36633841|PMID:7568224|PMID:7870171|PMID:7951250|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9171833|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356 12144465 MYO7A myosin VIIA gene DOID:0110543 autosomal dominant nonsyndromic deafness 11 ISO RGD:732206 D RGD:7240710 20180130 OMIM 12144465 MYO7A myosin VIIA gene DOID:0110543 autosomal dominant nonsyndromic deafness 11 ISO RGD:732206 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 11 PMID:10094549|PMID:10425080|PMID:10447383|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16449806|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19461658|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:21150918|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21738395|PMID:21873662|PMID:22135276|PMID:22681893|PMID:22690115|PMID:22785243|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23383098|PMID:23451214|PMID:23451239|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:25080338|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26467025|PMID:26486028|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27344577|PMID:27460420|PMID:27573290|PMID:27610647|PMID:27729122|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28041643|PMID:28472130|PMID:28492532|PMID:28802369|PMID:28944237|PMID:29048421|PMID:29196752|PMID:29490346|PMID:29625443|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30459346|PMID:30718709|PMID:30881389|PMID:3130723|PMID:31456290|PMID:31479088|PMID:32097363|PMID:32681043|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33363762|PMID:33576163|PMID:33576794|PMID:34652575|PMID:35802133|PMID:36633841|PMID:8900236|PMID:9002678|PMID:9354784|PMID:9382091|PMID:9536098|PMID:9718356 12144465 MYO7A myosin VIIA gene DOID:0110826 Usher syndrome type 1 ISO RGD:732206 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:10094549|PMID:10364543|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12080385|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16283880|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16786533|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22593002|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26469752|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29142287|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30881389|PMID:31035849|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:31836858|PMID:32097363|PMID:32428919|PMID:32467589|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33924653|PMID:35802133|PMID:36633841|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356 12144465 MYO7A myosin VIIA gene DOID:0110827 Usher syndrome type 2 ISO RGD:732206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2 PMID:25741868 12144465 MYO7A myosin VIIA gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:732206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:24033266|PMID:28492532 12144465 MYO7A myosin VIIA gene DOID:0111590 Cohen syndrome ISO RGD:732206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9382091 12144465 MYO7A myosin VIIA gene DOID:10003 sensorineural hearing loss ISO RGD:732206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:16449806|PMID:19461658|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28802369|PMID:30311386|PMID:34652575 12144465 MYO7A myosin VIIA gene DOID:10584 retinitis pigmentosa ISO RGD:732206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10094549|PMID:19074810|PMID:24033266|PMID:25404053|PMID:25741868|PMID:27957503|PMID:28492532|PMID:30303587|PMID:30311386|PMID:30718709|PMID:8900236 12144465 MYO7A myosin VIIA gene DOID:1059 intellectual disability ISO RGD:732206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12144465 MYO7A myosin VIIA gene DOID:14791 Leber congenital amaurosis ISO RGD:732206 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.578C>T (p.T193I)(human) PMID:21901789|REF_RGD_ID:11537385 12144465 MYO7A myosin VIIA gene DOID:1909 melanoma ISO RGD:732206 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12144465 MYO7A myosin VIIA gene DOID:3426 vestibular disease ISO RGD:732207 D RGD:9068941 20200609 RGD DNA:mutations:cds:multiple (mouse) PMID:9680294|REF_RGD_ID:4892285 12144465 MYO7A myosin VIIA gene DOID:630 genetic disease ISO RGD:732206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10094549|PMID:10930322|PMID:15043528|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:17361009|PMID:17576681|PMID:18463160|PMID:18484607|PMID:19683999|PMID:20052763|PMID:20513143|PMID:21436283|PMID:21569298|PMID:21873662|PMID:22135276|PMID:23770805|PMID:24033266|PMID:24199935|PMID:25404053|PMID:25525159|PMID:25741868|PMID:26226137|PMID:27460420|PMID:27743452|PMID:27957503|PMID:28041643|PMID:28492532|PMID:28944237|PMID:30303587|PMID:30311386|PMID:30459346|PMID:31479088|PMID:8900236|PMID:9536098 12144465 MYO7A myosin VIIA gene DOID:8501 fundus dystrophy ISO RGD:732206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10094549|PMID:10425080|PMID:10447383|PMID:10930322|PMID:12112664|PMID:15043528|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:18181211|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20497194|PMID:20513143|PMID:21311020|PMID:21436283|PMID:21569298|PMID:21873662|PMID:22135276|PMID:23148716|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23770805|PMID:24033266|PMID:24199935|PMID:24831256|PMID:25080338|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25575603|PMID:25741868|PMID:25788563|PMID:26338283|PMID:26486028|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27460420|PMID:27583663|PMID:27743452|PMID:27957503|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28944237|PMID:29490346|PMID:30303587|PMID:30390570|PMID:30459346|PMID:31266775|PMID:31479088|PMID:31836858|PMID:32747562|PMID:33576163|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9259201|PMID:9382091|PMID:9536098 12144465 MYO7A myosin VIIA gene DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness ISO RGD:732206 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9382091 12144465 MYO7A myosin VIIA gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:732206 D RGD:7240710 20180130 OMIM 12144465 MYO7A myosin VIIA gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:732206 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:11391666|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16283880|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21150918|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23383098|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28731162|PMID:28944237|PMID:28968992|PMID:29142287|PMID:29178603|PMID:29416772|PMID:29490346|PMID:29625443|PMID:30029497|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390570|PMID:30459346|PMID:30718709|PMID:30881389|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:32097363|PMID:32428919|PMID:32747562|PMID:32860223|PMID:33111345|PMID:33269433|PMID:33363762|PMID:33576163|PMID:7568224|PMID:7870171|PMID:7951250|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9171833|PMID:9259201|PMID:9354784|PMID:9382091|PMID:9536098|PMID:9718356|PMID:9843659 12144465 MYO7A myosin VIIA gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:732206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:11391666|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21150918|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23383098|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28731162|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29142287|PMID:29178603|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30029497|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390570|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30881389|PMID:31035849|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:32097363|PMID:32428919|PMID:32467589|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33089500|PMID:33111345|PMID:33187236|PMID:33269433|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33924653|PMID:7568224|PMID:7870171|PMID:7951250|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9171833|PMID:9259201|PMID:9354784|PMID:9382091|PMID:9536098|PMID:9718356|PMID:9843659 12144465 MYO7A myosin VIIA gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:732206 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:11391666|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21150918|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23383098|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28731162|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29142287|PMID:29178603|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30029497|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390570|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30881389|PMID:31035849|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:32097363|PMID:32428919|PMID:32467589|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33089500|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33924653|PMID:35802133|PMID:36633841|PMID:7568224|PMID:7870171|PMID:7951250|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9171833|PMID:9259201|PMID:9354784|PMID:9382091|PMID:9536098|PMID:9718356|PMID:9843659 12144465 MYO7A myosin VIIA gene DOID:9003365 Usher Syndrome Type 1B treatment ISO RGD:732206 D RGD:9068941 20200609 RGD PMID:23991031|REF_RGD_ID:8694151 12144465 MYO7A myosin VIIA gene DOID:9004538 Hearing Loss ISO RGD:732206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:16199547|PMID:21436283|PMID:21873662|PMID:22135276|PMID:23208854|PMID:24033266|PMID:25404053|PMID:25741868|PMID:26467025|PMID:26486028|PMID:26969326|PMID:27068579|PMID:27160483|PMID:28492532|PMID:30311386|PMID:30872814|PMID:8900236|PMID:9259201 12144465 MYO7A myosin VIIA gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:732206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:24033266|PMID:28492532 12144465 MYO7A myosin VIIA gene DOID:9008681 Deafness ISO RGD:732206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:22135276|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30303587 12144465 MYO7A myosin VIIA gene DOID:9649 congenital nystagmus ISO RGD:732206 D RGD:9068941 20200609 RGD associated with Leber Congenital Amaurosis;DNA:missense mutation:cds:c.578C>T (p.T193I)(human) PMID:21901789|REF_RGD_ID:11537385 12144465 MYO7A myosin VIIA gene DOID:9849 Meniere's disease ISO RGD:732206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:15221449|PMID:16470552|PMID:20146813|PMID:21487335|PMID:22681893|PMID:23804846|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28000701|PMID:28492532|PMID:30303587|PMID:30459346|PMID:33363762 12144529 AADAT aminoadipate aminotransferase gene DOID:630 genetic disease ISO RGD:1606004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144529 AADAT aminoadipate aminotransferase gene DOID:684 hepatocellular carcinoma ISO RGD:1606004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12144529 AADAT aminoadipate aminotransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12144550 SRRD SRR1 domain containing gene DOID:0110271 cataract 23 ISO RGD:1606069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 12144550 SRRD SRR1 domain containing gene DOID:630 genetic disease ISO RGD:1606069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144559 HDAC7 histone deacetylase 7 gene DOID:12858 Huntington's disease ISO RGD:1552552 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:21118817|REF_RGD_ID:9681718 12144559 HDAC7 histone deacetylase 7 gene DOID:630 genetic disease ISO RGD:1349346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144559 HDAC7 histone deacetylase 7 gene DOID:9256 colorectal cancer ISO RGD:1349346 D RGD:9068941 20200609 RGD mRNA:increased expression:colon: PMID:23724067|REF_RGD_ID:9590193 12144559 HDAC7 histone deacetylase 7 gene DOID:986 alopecia areata ISO RGD:1349346 D RGD:9068941 20200609 RGD mRNA:decreased expression:mononuclear cell: PMID:21936853|REF_RGD_ID:9587460 12144599 SLC66A1 solute carrier family 66 member 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1323183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12144599 SLC66A1 solute carrier family 66 member 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1323183 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12144599 SLC66A1 solute carrier family 66 member 1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1323183 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12144599 SLC66A1 solute carrier family 66 member 1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1323183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12144599 SLC66A1 solute carrier family 66 member 1 gene DOID:630 genetic disease ISO RGD:1323183 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144599 SLC66A1 solute carrier family 66 member 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1323183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:0050865 tongue squamous cell carcinoma severity ISO RGD:732538 D RGD:9068941 20210423 RGD PMID:19691460|REF_RGD_ID:126781771 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:732538 D RGD:9068941 20210423 RGD PMID:14595263|REF_RGD_ID:126781770 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:732538 D RGD:9068941 20200609 RGD PMID:15788662|REF_RGD_ID:2289981 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:732538 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 PMID:25741868|PMID:28492532 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:0060210 amyotrophic lateral sclerosis type 19 ISO RGD:732538 D RGD:7240710 20180130 OMIM 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:0060210 amyotrophic lateral sclerosis type 19 ISO RGD:732538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 19 PMID:24119685|PMID:25741868|PMID:28492532|PMID:32579787 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:0060224 atrial fibrillation ISO RGD:732538 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:0111078 tibial muscular dystrophy ISO RGD:732538 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:25741868|PMID:28492532 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:10283 prostate cancer ISO RGD:732538 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:17922460|REF_RGD_ID:2289978 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732538 D RGD:9068941 20200609 RGD PMID:16685269|REF_RGD_ID:2298502 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732538 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:18006009|REF_RGD_ID:2289943 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:11832 visual epilepsy ISO RGD:1551357 D RGD:9068941 20200609 RGD PMID:22158510|REF_RGD_ID:10449024 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:11832 visual epilepsy ISO RGD:620486 D RGD:9068941 20200609 RGD protein:increased phosphorylation:hippocampus PMID:22158510|REF_RGD_ID:10449024 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:1324 lung cancer ISO RGD:732538 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:732538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:1909 melanoma ISO RGD:732538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma PMID:19718025 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:2671 transitional cell carcinoma ISO RGD:732538 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:16469638|REF_RGD_ID:2289980 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:2671 transitional cell carcinoma ISO RGD:732538 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:14614020|REF_RGD_ID:2298506 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:732538 D RGD:9068941 20210423 RGD PMID:22549618|REF_RGD_ID:126790474 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:3307 teratoma ISO RGD:732538 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532|PMID:29895397 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:732538 D RGD:9068941 20210423 RGD protein:altered localization:nucleus PMID:18000820|REF_RGD_ID:126781765 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:732538 D RGD:9068941 20210423 RGD DNA:SNPs, haplotypes: :rs1595066 and rs16845990 (human) PMID:24916311|REF_RGD_ID:126781764 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:732538 D RGD:9068941 20210423 RGD PMID:26824984|REF_RGD_ID:126790475 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:4306 radiculopathy ISO RGD:620486 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:17401154|REF_RGD_ID:2289993 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:4362 cervical cancer ISO RGD:732538 D RGD:9068941 20210423 RGD protein:increased expression: uterine cervix, cytoplasm PMID:28042953|REF_RGD_ID:126790468 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:4450 renal cell carcinoma ISO RGD:732538 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:15360049|REF_RGD_ID:2289987 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:5419 schizophrenia ISO RGD:732538 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:5517 stomach carcinoma disease_progression ISO RGD:732538 D RGD:9068941 20210423 RGD PMID:21709195|REF_RGD_ID:126781768 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:5520 head and neck squamous cell carcinoma severity ISO RGD:732538 D RGD:9068941 20210423 RGD PMID:20604875|REF_RGD_ID:126790467 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:571 median neuropathy ISO RGD:620486 D RGD:9068941 20210423 RGD PMID:18845940|PMID:19296522|REF_RGD_ID:10449020|REF_RGD_ID:126790486 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:574 peripheral nervous system disease ISO RGD:1551357 D RGD:9068941 20200609 RGD PMID:14555954|REF_RGD_ID:734941 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:6000 congestive heart failure ISO RGD:620486 D RGD:9068941 20200609 RGD associated with Aortic Valve Stenosis;mRNA, protein:decreased expression:heart myocardium PMID:10421602|REF_RGD_ID:1580989 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:630 genetic disease ISO RGD:732538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:684 hepatocellular carcinoma ISO RGD:732538 D RGD:9068941 20210423 RGD DNA:insertion/deletion:3'UTR:rs6147150 (human) PMID:22294845|REF_RGD_ID:126781763 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:732538 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24997986 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:732538 D RGD:9068941 20210423 RGD associated with oral squamous cell carcinoma PMID:27444519|REF_RGD_ID:126781762 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:732538 D RGD:9068941 20210423 RGD associated with lung non-small cell carcinoma PMID:21324275|REF_RGD_ID:126790471 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9000081 Lymphatic Metastasis severity ISO RGD:732538 D RGD:9068941 20210423 RGD associated with colorectal adenocarcinoma PMID:16507107|REF_RGD_ID:126781766 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:732538 D RGD:9068941 20220421 RGD PMID:28756200|REF_RGD_ID:151893490 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:732538 D RGD:9068941 20210423 RGD associated with lung adenocarcinoma PMID:26254096|REF_RGD_ID:126790470 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9002514 Neointima ISO RGD:620486 D RGD:9068941 20200609 RGD PMID:17438359|REF_RGD_ID:2289992 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732538 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary PMID:18575766|REF_RGD_ID:2298499 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:732538 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17465227|REF_RGD_ID:2289947 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9004240 Phyllodes Tumor disease_progression ISO RGD:732538 D RGD:9068941 20200609 RGD PMID:11206334|REF_RGD_ID:2289951 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:732538 D RGD:9068941 20200609 RGD PMID:16962163|REF_RGD_ID:2289950 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9004464 Skin Neoplasms ISO RGD:732538 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19718025 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732538 D RGD:9068941 20200609 RGD PMID:17203220|REF_RGD_ID:2289979 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:620486 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expresssion:left ventricle myocardium PMID:22285193|REF_RGD_ID:10449013 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9007096 Stroke ISO RGD:620486 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:15694257|REF_RGD_ID:2289956 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9007715 Endometrial Neoplasms ISO RGD:732538 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:10537356|REF_RGD_ID:2298505 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:732538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9008939 Breast Neoplasms ISO RGD:732538 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:17465220|REF_RGD_ID:2289949 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:732538 D RGD:9068941 20200609 RGD DNA:amplification PMID:18182100|REF_RGD_ID:2289942 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:732538 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-782G>T (human) PMID:18094435|REF_RGD_ID:2289977 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9255 frontotemporal dementia ISO RGD:732538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:28492532 12144612 ERBB4 erb-b2 receptor tyrosine kinase 4 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732538 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-782G>T (human) PMID:18094435|REF_RGD_ID:2289977 12144652 DTD1 D-aminoacyl-tRNA deacylase 1 gene DOID:630 genetic disease ISO RGD:1323478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144671 C15H1orf122 chromosome 15 C1orf122 homolog gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12144671 C15H1orf122 chromosome 15 C1orf122 homolog gene DOID:630 genetic disease ISO RGD:1606463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144671 C15H1orf122 chromosome 15 C1orf122 homolog gene DOID:9002926 Galloway-Mowat Syndrome 10 ISO RGD:1606463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 PMID:31481669 12144681 TDRP testis development related protein gene DOID:630 genetic disease ISO RGD:1602978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144687 SRSF10 serine and arginine rich splicing factor 10 gene DOID:11612 polycystic ovary syndrome ISO RGD:1322327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12144687 SRSF10 serine and arginine rich splicing factor 10 gene DOID:4448 macular degeneration ISO RGD:1322327 D RGD:9068941 20200609 RGD protein:increased expression:retina (human) PMID:24098751|REF_RGD_ID:11038792 12144687 SRSF10 serine and arginine rich splicing factor 10 gene DOID:630 genetic disease ISO RGD:1322327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144687 SRSF10 serine and arginine rich splicing factor 10 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1322327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21072693 12144687 SRSF10 serine and arginine rich splicing factor 10 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1322327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12144687 SRSF10 serine and arginine rich splicing factor 10 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1322327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21072693 12144726 FAM228B family with sequence similarity 228, member B gene DOID:4990 essential tremor ISO RGD:2305665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 12144726 FAM228B family with sequence similarity 228, member B gene DOID:630 genetic disease ISO RGD:2305665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144770 AKAP14 A-kinase anchoring protein 14 gene DOID:0050437 Danon disease ISO RGD:1353822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 12144770 AKAP14 A-kinase anchoring protein 14 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12144770 AKAP14 A-kinase anchoring protein 14 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1353822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 12144770 AKAP14 A-kinase anchoring protein 14 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1353822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 12144770 AKAP14 A-kinase anchoring protein 14 gene DOID:12849 autistic disorder ISO RGD:1353822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12144770 AKAP14 A-kinase anchoring protein 14 gene DOID:630 genetic disease ISO RGD:1353822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144781 PDE3B phosphodiesterase 3B gene DOID:1059 intellectual disability ISO RGD:732966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12144781 PDE3B phosphodiesterase 3B gene DOID:11612 polycystic ovary syndrome ISO RGD:732966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12144781 PDE3B phosphodiesterase 3B gene DOID:630 genetic disease ISO RGD:732966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144801 FGF10 fibroblast growth factor 10 gene DOID:0050331 LADD syndrome ISO RGD:734330 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: LACRIMOAURICULODENTODIGITAL SYNDROME | ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome PMID:16630169|PMID:17213838|PMID:25741868|PMID:26955834|PMID:28492532 12144801 FGF10 fibroblast growth factor 10 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:734330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12144801 FGF10 fibroblast growth factor 10 gene DOID:0111549 aplasia of lacrimal and salivary glands ISO RGD:734330 D RGD:7240710 20180130 OMIM 12144801 FGF10 fibroblast growth factor 10 gene DOID:0111549 aplasia of lacrimal and salivary glands ISO RGD:734330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aplasia of lacrimal and salivary glands | ClinVar Annotator: match by term: Salivary glands, absence of PMID:15654336|PMID:16630169|PMID:17213838|PMID:25741868|PMID:28492532 12144801 FGF10 fibroblast growth factor 10 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:734330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12144801 FGF10 fibroblast growth factor 10 gene DOID:10486 intestinal atresia ISO RGD:10578 D RGD:9068941 20220825 MouseDO 12144801 FGF10 fibroblast growth factor 10 gene DOID:10533 viral pneumonia treatment ISO RGD:10578 D RGD:9068941 20210611 RGD PMID:27322618|REF_RGD_ID:127284849 12144801 FGF10 fibroblast growth factor 10 gene DOID:10787 premature menopause treatment ISO RGD:10578 D RGD:9068941 20210528 RGD PMID:27679811|REF_RGD_ID:126928135 12144801 FGF10 fibroblast growth factor 10 gene DOID:10892 hypospadias ISO RGD:2606 D RGD:9068941 20200609 RGD PMID:19464577|REF_RGD_ID:2314151 12144801 FGF10 fibroblast growth factor 10 gene DOID:3178 skin papilloma ISO RGD:10578 D RGD:9068941 20210528 RGD protein:increased expression:skin (mouse) PMID:24582960|REF_RGD_ID:126928134 12144801 FGF10 fibroblast growth factor 10 gene DOID:3910 lung adenocarcinoma ISO RGD:734330 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 12144801 FGF10 fibroblast growth factor 10 gene DOID:630 genetic disease ISO RGD:734330 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12144801 FGF10 fibroblast growth factor 10 gene DOID:674 cleft palate ISO RGD:734330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 12144801 FGF10 fibroblast growth factor 10 gene DOID:9000099 Experimental Colitis treatment ISO RGD:2606 D RGD:9068941 20210625 RGD PMID:11952999|REF_RGD_ID:127284874 12144801 FGF10 fibroblast growth factor 10 gene DOID:9000099 Experimental Colitis treatment ISO RGD:734330 D RGD:9068941 20210528 RGD human protein in mouse model PMID:10381813|REF_RGD_ID:126928132 12144801 FGF10 fibroblast growth factor 10 gene DOID:9000099 Experimental Colitis treatment ISO RGD:734330 D RGD:9068941 20210528 RGD human protein in mouse model with bacterial delivery system PMID:19736360|REF_RGD_ID:126928133 12144801 FGF10 fibroblast growth factor 10 gene DOID:9000099 Experimental Colitis treatment ISO RGD:734330 D RGD:9068941 20210611 RGD human gene product in mouse model PMID:23676805|REF_RGD_ID:127284855 12144801 FGF10 fibroblast growth factor 10 gene DOID:9000656 Penetrating Wounds treatment ISO RGD:734330 D RGD:9068941 20210528 RGD human protein in rat model PMID:10417753|REF_RGD_ID:126928129 12144801 FGF10 fibroblast growth factor 10 gene DOID:9000955 Acute Otitis Media ISO RGD:10578 D RGD:9068941 20210611 RGD mRNA:decreased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 12144801 FGF10 fibroblast growth factor 10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:734330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743467 12144801 FGF10 fibroblast growth factor 10 gene DOID:9002488 Peritoneal Fibrosis ISO RGD:10578 D RGD:9068941 20210528 RGD mRNA:decreased expression:peritoneum (mouse) PMID:31431501|REF_RGD_ID:126928131 12144801 FGF10 fibroblast growth factor 10 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:10578 D RGD:9068941 20210528 RGD miR-145 inhibitor PMID:31431501|REF_RGD_ID:126928131 12144801 FGF10 fibroblast growth factor 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12144801 FGF10 fibroblast growth factor 10 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2606 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:18421211|REF_RGD_ID:2292665 12144801 FGF10 fibroblast growth factor 10 gene DOID:9008206 LADD Syndrome 3 ISO RGD:734330 D RGD:7240710 20230125 OMIM 12144801 FGF10 fibroblast growth factor 10 gene DOID:9008206 LADD Syndrome 3 ISO RGD:734330 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 3 PMID:15654336|PMID:16501574|PMID:16630169 12144801 FGF10 fibroblast growth factor 10 gene DOID:9008939 Breast Neoplasms ISO RGD:734330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438407 12144801 FGF10 fibroblast growth factor 10 gene DOID:9296 cleft lip ISO RGD:734330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 12144801 Fgf10 fibroblast growth factor 10 gene DOID:10533 viral pneumonia ISO RGD:10578 D RGD:9068941 20210611 RGD PMID:27322618|REF_RGD_ID:127284849 12144801 Fgf10 fibroblast growth factor 10 gene DOID:3151 skin squamous cell carcinoma ISO RGD:10578 D RGD:9068941 20210528 RGD protein:increased expression:skin (mouse) PMID:24582960|REF_RGD_ID:126928134 12144810 ODAPH odontogenesis associated phosphoprotein gene DOID:0110062 amelogenesis imperfecta hypomaturation type 2A4 ISO RGD:1604986 D RGD:7240710 20180130 OMIM 12144810 ODAPH odontogenesis associated phosphoprotein gene DOID:0110062 amelogenesis imperfecta hypomaturation type 2A4 ISO RGD:1604986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4 PMID:22901946 12144810 ODAPH odontogenesis associated phosphoprotein gene DOID:891 progressive myoclonus epilepsy ISO RGD:1604986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 12144810 ODAPH odontogenesis associated phosphoprotein gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1604986 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12144815 TMEM220 transmembrane protein 220 gene DOID:630 genetic disease ISO RGD:1604450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144825 ELOF1 elongation factor 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1601839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12144825 ELOF1 elongation factor 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1601839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12144825 ELOF1 elongation factor 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1601839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12144825 ELOF1 elongation factor 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1601839 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12144916 PLA2G7 phospholipase A2 group VII gene DOID:0050848 obstructive sleep apnea ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:21698055|REF_RGD_ID:6482785 12144916 PLA2G7 phospholipase A2 group VII gene DOID:0050851 glomerulosclerosis ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:16213192|REF_RGD_ID:7248790 12144916 PLA2G7 phospholipase A2 group VII gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1321810 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22112193|REF_RGD_ID:6482771 12144916 PLA2G7 phospholipase A2 group VII gene DOID:0080379 nephrotic syndrome type 2 disease_progression ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:9853251|REF_RGD_ID:7248793 12144916 PLA2G7 phospholipase A2 group VII gene DOID:0110098 atopic dermatitis 2 ISO RGD:1321810 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dermatitis, atopic, 2 PMID:25741868 12144916 PLA2G7 phospholipase A2 group VII gene DOID:1184 nephrotic syndrome ISO RGD:1310734 D RGD:9068941 20200609 RGD protein:increased activity:plasma PMID:8692015|REF_RGD_ID:7257517 12144916 PLA2G7 phospholipase A2 group VII gene DOID:1184 nephrotic syndrome ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:15292677|REF_RGD_ID:7248795 12144916 PLA2G7 phospholipase A2 group VII gene DOID:12554 hemolytic-uremic syndrome severity ISO RGD:1321810 D RGD:9068941 20200609 RGD associated with Escherichia coli Infections; DNA:transversion mutation: :994 G>T (human) PMID:10873870|REF_RGD_ID:7257516 12144916 PLA2G7 phospholipase A2 group VII gene DOID:13001 carotid stenosis severity ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:22075154|REF_RGD_ID:6482772 12144916 PLA2G7 phospholipase A2 group VII gene DOID:1307 dementia ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:16278861|REF_RGD_ID:6482779 12144916 PLA2G7 phospholipase A2 group VII gene DOID:1936 atherosclerosis ISO RGD:1321810 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, type 2;DNA:missense mutation: :994G>T(human) PMID:12590019|REF_RGD_ID:7248796 12144916 PLA2G7 phospholipase A2 group VII gene DOID:1936 atherosclerosis ISO RGD:1321811 D RGD:9068941 20200609 RGD PMID:21970837|REF_RGD_ID:6482784 12144916 PLA2G7 phospholipase A2 group VII gene DOID:2377 multiple sclerosis ISO RGD:1321810 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22246459|REF_RGD_ID:6482783 12144916 PLA2G7 phospholipase A2 group VII gene DOID:2841 asthma ISO RGD:1321810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma and atopy, susceptibility to PMID:10733466|PMID:15115767 12144916 PLA2G7 phospholipase A2 group VII gene DOID:2841 asthma susceptibility ISO RGD:1321810 D RGD:7240710 20230517 OMIM 12144916 PLA2G7 phospholipase A2 group VII gene DOID:2921 glomerulonephritis ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:8730430|REF_RGD_ID:7248794 12144916 PLA2G7 phospholipase A2 group VII gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1321810 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:12220450|REF_RGD_ID:7257515 12144916 PLA2G7 phospholipase A2 group VII gene DOID:3393 coronary artery disease disease_progression ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:17070179|REF_RGD_ID:6482777 12144916 PLA2G7 phospholipase A2 group VII gene DOID:3393 coronary artery disease susceptibility ISO RGD:1321810 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A379V (human) PMID:15115767|REF_RGD_ID:6482781 12144916 PLA2G7 phospholipase A2 group VII gene DOID:3407 carotid artery disease severity ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:22499993|REF_RGD_ID:6482769 12144916 PLA2G7 phospholipase A2 group VII gene DOID:3526 cerebral infarction ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:18201705|REF_RGD_ID:6482775 12144916 PLA2G7 phospholipase A2 group VII gene DOID:576 proteinuria ISO RGD:1321810 D RGD:9068941 20200609 RGD DNA:mutation: :994G>T(human) PMID:10430976|REF_RGD_ID:7248792 12144916 PLA2G7 phospholipase A2 group VII gene DOID:5844 myocardial infarction ISO RGD:1321810 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19644070|REF_RGD_ID:6482786 12144916 PLA2G7 phospholipase A2 group VII gene DOID:6000 congestive heart failure ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:16952920|REF_RGD_ID:6482778 12144916 PLA2G7 phospholipase A2 group VII gene DOID:630 genetic disease ISO RGD:1321810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144916 PLA2G7 phospholipase A2 group VII gene DOID:655 inherited metabolic disorder ISO RGD:1321810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8675689 12144916 PLA2G7 phospholipase A2 group VII gene DOID:7148 rheumatoid arthritis ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:17326817|REF_RGD_ID:6482776 12144916 PLA2G7 phospholipase A2 group VII gene DOID:7693 abdominal aortic aneurysm ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:11807372|REF_RGD_ID:1581024 12144916 PLA2G7 phospholipase A2 group VII gene DOID:783 end stage renal disease ISO RGD:1321810 D RGD:9068941 20200609 RGD plasma:increased expression:plasma PMID:16421163|REF_RGD_ID:7248787 12144916 PLA2G7 phospholipase A2 group VII gene DOID:9000204 Platelet-Activating Factor Acetylhydrolase Deficiency ISO RGD:1321810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Platelet-activating factor acetylhydrolase deficiency PMID:10194471|PMID:10733466|PMID:16787988|PMID:25741868|PMID:28406212|PMID:8675689|PMID:9412624 12144916 PLA2G7 phospholipase A2 group VII gene DOID:9000204 Platelet-Activating Factor Acetylhydrolase Deficiency susceptibility ISO RGD:1321810 D RGD:7240710 20230517 OMIM 12144916 PLA2G7 phospholipase A2 group VII gene DOID:9000528 Coronary Disease ISO RGD:1321810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21356620 12144916 PLA2G7 phospholipase A2 group VII gene DOID:9000528 Coronary Disease ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:15699277|REF_RGD_ID:6482780 12144916 PLA2G7 phospholipase A2 group VII gene DOID:9001686 Acute Coronary Syndrome disease_progression ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:22024276|REF_RGD_ID:6482773 12144916 PLA2G7 phospholipase A2 group VII gene DOID:9002850 Immediate Hypersensitivity ISO RGD:1321810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10733466 12144916 PLA2G7 phospholipase A2 group VII gene DOID:9005372 Inflammation ISO RGD:1321810 D RGD:9068941 20200609 RGD associated with Cerebral Infarction;protein:increased expression:serum PMID:19886071|REF_RGD_ID:6482774 12144916 PLA2G7 phospholipase A2 group VII gene DOID:9005930 Endotoxemia ISO RGD:1310734 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:10748027|REF_RGD_ID:7248791 12144916 PLA2G7 phospholipase A2 group VII gene DOID:9006332 Vascular Calcification ISO RGD:1321810 D RGD:9068941 20200609 RGD DNA:SNPs:cds, intron:multiple PMID:22340269|REF_RGD_ID:6482770 12144916 PLA2G7 phospholipase A2 group VII gene DOID:9006646 Metabolic Syndrome ISO RGD:1310734 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:21172452|REF_RGD_ID:6482748 12144916 PLA2G7 phospholipase A2 group VII gene DOID:9007096 Stroke ISO RGD:1321810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21356620 12144916 PLA2G7 phospholipase A2 group VII gene DOID:9007096 Stroke ISO RGD:1321810 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19644070|REF_RGD_ID:6482786 12144916 PLA2G7 phospholipase A2 group VII gene DOID:9008727 Ige Responsiveness, Atopic susceptibility ISO RGD:1321810 D RGD:7240710 20230517 OMIM 12144916 PLA2G7 phospholipase A2 group VII gene DOID:9352 type 2 diabetes mellitus ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:22399516|REF_RGD_ID:6482782 12144948 LMNB1 lamin B1 gene DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy ISO RGD:733220 D RGD:7240710 20180130 OMIM 12144948 LMNB1 lamin B1 gene DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy ISO RGD:733220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy | ClinVar Annotator: match by term: Leukodystrophy, Adult-Onset | ClinVar Annotator: match by term: Syndrome with microcephaly as major feature PMID:16951681|PMID:19151023|PMID:21225301|PMID:21909802|PMID:23649844|PMID:25741868|PMID:28492532|PMID:32910914|PMID:33033404 12144948 LMNB1 lamin B1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733220 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12144948 LMNB1 lamin B1 gene DOID:0080600 COVID-19 ISO RGD:733220 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12144948 LMNB1 lamin B1 gene DOID:10907 microcephaly ISO RGD:733220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12144948 LMNB1 lamin B1 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:733220 D RGD:9068941 20220602 CTD CTD Direct Evidence: marker/mechanism 12144948 LMNB1 lamin B1 gene DOID:3910 lung adenocarcinoma ISO RGD:733220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12144948 LMNB1 lamin B1 gene DOID:630 genetic disease ISO RGD:733220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32910914|PMID:33033404 12144948 LMNB1 lamin B1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12144948 LMNB1 lamin B1 gene DOID:9006205 Animal Disease Models ISO RGD:733220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12144948 LMNB1 lamin B1 gene DOID:9006542 Primary Autosomal Recessive Microcephaly 26 ISO RGD:733220 D RGD:7240710 20210303 OMIM 12144948 LMNB1 lamin B1 gene DOID:9006542 Primary Autosomal Recessive Microcephaly 26 ISO RGD:733220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 26, primary, autosomal dominant PMID:25741868|PMID:32910914|PMID:33033404 12144948 LMNB1 lamin B1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12144948 LMNB1 lamin B1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733220 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12144980 ATP9A ATPase phospholipid transporting 9A (putative) gene DOID:0060747 Duane-radial ray syndrome ISO RGD:735480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Duane-radial ray syndrome PMID:11826030|PMID:15342710 12144980 ATP9A ATPase phospholipid transporting 9A (putative) gene DOID:630 genetic disease ISO RGD:735480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12144980 ATP9A ATPase phospholipid transporting 9A (putative) gene DOID:9000845 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES ISO RGD:735480 D RGD:7240710 20230505 OMIM 12144980 ATP9A ATPase phospholipid transporting 9A (putative) gene DOID:9000845 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES ISO RGD:735480 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and behavioral abnormalities PMID:25741868|PMID:34379057|PMID:34764295|PMID:36604604 12145017 ZNF512B zinc finger protein 512B gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12145017 ZNF512B zinc finger protein 512B gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1606523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12145017 ZNF512B zinc finger protein 512B gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12145017 ZNF512B zinc finger protein 512B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1606523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12145017 ZNF512B zinc finger protein 512B gene DOID:630 genetic disease ISO RGD:1606523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145051 FRRS1 ferric chelate reductase 1 gene DOID:0080600 COVID-19 ISO RGD:1604148 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12145051 FRRS1 ferric chelate reductase 1 gene DOID:630 genetic disease ISO RGD:1604148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145077 TMEM150C transmembrane protein 150C gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:3564030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 12145077 TMEM150C transmembrane protein 150C gene DOID:630 genetic disease ISO RGD:3564030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145077 TMEM150C transmembrane protein 150C gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:3564030 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12145094 ZNF582 zinc finger protein 582 gene DOID:630 genetic disease ISO RGD:1353424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145140 TNNT3 troponin T3, fast skeletal type gene DOID:0050646 distal arthrogryposis ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal | ClinVar Annotator: match by term: Distal arthrogryposis PMID:18414213|PMID:25741868|PMID:28492532 12145140 TNNT3 troponin T3, fast skeletal type gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12145140 TNNT3 troponin T3, fast skeletal type gene DOID:0080006 bone development disease ISO RGD:737137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868|PMID:28492532 12145140 TNNT3 troponin T3, fast skeletal type gene DOID:0080773 delta beta-thalassemia ISO RGD:737137 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12145140 TNNT3 troponin T3, fast skeletal type gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:28492532 12145140 TNNT3 troponin T3, fast skeletal type gene DOID:0111599 distal arthrogryposis type 2B ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthyrgryposis, distal, type 2B PMID:10525521|PMID:12865991|PMID:19142688|PMID:21402185|PMID:25337069|PMID:25741868 12145140 TNNT3 troponin T3, fast skeletal type gene DOID:0111600 distal arthrogryposis type 2B1 ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 PMID:18414213|PMID:25741868|PMID:28492532 12145140 TNNT3 troponin T3, fast skeletal type gene DOID:0111601 distal arthrogryposis type 2B2 ISO RGD:737137 D RGD:7240710 20200228 OMIM 12145140 TNNT3 troponin T3, fast skeletal type gene DOID:0111601 distal arthrogryposis type 2B2 ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B2 PMID:10525521|PMID:12865991|PMID:19142688|PMID:21402185|PMID:25337069|PMID:25741868 12145140 TNNT3 troponin T3, fast skeletal type gene DOID:0111969 immunodeficiency 39 ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12145140 TNNT3 troponin T3, fast skeletal type gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12145140 TNNT3 troponin T3, fast skeletal type gene DOID:10907 microcephaly ISO RGD:737137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12145140 TNNT3 troponin T3, fast skeletal type gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12145140 TNNT3 troponin T3, fast skeletal type gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:737137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate PMID:25741868|PMID:28492532 12145140 TNNT3 troponin T3, fast skeletal type gene DOID:630 genetic disease ISO RGD:737137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:28492532 12145140 TNNT3 troponin T3, fast skeletal type gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12145175 TUT1 terminal uridylyl transferase 1, U6 snRNA-specific gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1345565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12145175 TUT1 terminal uridylyl transferase 1, U6 snRNA-specific gene DOID:1059 intellectual disability ISO RGD:1345565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12145175 TUT1 terminal uridylyl transferase 1, U6 snRNA-specific gene DOID:630 genetic disease ISO RGD:1345565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145188 PTPRK protein tyrosine phosphatase receptor type K gene DOID:1909 melanoma ISO RGD:1354114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842|PMID:22842228 12145188 PTPRK protein tyrosine phosphatase receptor type K gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12145188 PTPRK protein tyrosine phosphatase receptor type K gene DOID:630 genetic disease ISO RGD:1354114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145188 PTPRK protein tyrosine phosphatase receptor type K gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12145238 DAZAP2 DAZ associated protein 2 gene DOID:630 genetic disease ISO RGD:1316588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145251 ZNF483 zinc finger protein 483 gene DOID:630 genetic disease ISO RGD:1604223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145264 DNPH1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1603316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12145264 DNPH1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 gene DOID:630 genetic disease ISO RGD:1603316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145264 DNPH1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 gene DOID:905 Zellweger syndrome ISO RGD:1603316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12145274 DCLK2 doublecortin like kinase 2 gene DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 ISO RGD:1348460 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 PMID:24088041|PMID:25741868|PMID:31690835 12145274 DCLK2 doublecortin like kinase 2 gene DOID:630 genetic disease ISO RGD:1348460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145313 SORBS2 sorbin and SH3 domain containing 2 gene DOID:12849 autistic disorder ISO RGD:732975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12145313 SORBS2 sorbin and SH3 domain containing 2 gene DOID:630 genetic disease ISO RGD:732975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145313 SORBS2 sorbin and SH3 domain containing 2 gene DOID:9004657 Weight Gain ISO RGD:732975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12145313 SORBS2 sorbin and SH3 domain containing 2 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:732975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 12145391 CD6 CD6 molecule gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1351600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12145391 CD6 CD6 molecule gene DOID:1059 intellectual disability ISO RGD:1351600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12145391 CD6 CD6 molecule gene DOID:2377 multiple sclerosis ISO RGD:1351600 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19525953|PMID:24076602 12145391 CD6 CD6 molecule gene DOID:630 genetic disease ISO RGD:1351600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145417 MBD5 methyl-CpG binding domain protein 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1344111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders PMID:23422940|PMID:23587880|PMID:25741868|PMID:28492532|PMID:30763456 12145417 MBD5 methyl-CpG binding domain protein 5 gene DOID:0060224 atrial fibrillation ISO RGD:1344111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12145417 MBD5 methyl-CpG binding domain protein 5 gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1623858 D RGD:9068941 20220825 MouseDO 12145417 MBD5 methyl-CpG binding domain protein 5 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1344111 D RGD:7240710 20180130 OMIM 12145417 MBD5 methyl-CpG binding domain protein 5 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1344111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:16199547|PMID:17576681|PMID:17847001|PMID:19809484|PMID:19904302|PMID:21981781|PMID:22726846|PMID:23055267|PMID:23422940|PMID:23587880|PMID:23632792|PMID:24885232|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27222293|PMID:28008202|PMID:28454995|PMID:28492532|PMID:29655203|PMID:31820818|PMID:32193494|PMID:32238909|PMID:33427406|PMID:9536098 12145417 MBD5 methyl-CpG binding domain protein 5 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: developmental delay with intractable seizures PMID:26467025|PMID:28492532 12145417 MBD5 methyl-CpG binding domain protein 5 gene DOID:1059 intellectual disability ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:30763456 12145417 MBD5 methyl-CpG binding domain protein 5 gene DOID:10907 microcephaly ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12145417 MBD5 methyl-CpG binding domain protein 5 gene DOID:12849 autistic disorder ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:21681106|PMID:30208311 12145417 MBD5 methyl-CpG binding domain protein 5 gene DOID:1826 epilepsy ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12145417 MBD5 methyl-CpG binding domain protein 5 gene DOID:5419 schizophrenia ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12145417 MBD5 methyl-CpG binding domain protein 5 gene DOID:630 genetic disease ISO RGD:1344111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17847001|PMID:21981781|PMID:23055267|PMID:23422940|PMID:23587880|PMID:25741868|PMID:26467025|PMID:27222293|PMID:28008202|PMID:28492532|PMID:30763456 12145417 MBD5 methyl-CpG binding domain protein 5 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868|PMID:28492532 12145417 MBD5 methyl-CpG binding domain protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12145417 MBD5 methyl-CpG binding domain protein 5 gene DOID:9005603 Muscle Hypotonia ISO RGD:1344111 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:25741868 12145417 MBD5 methyl-CpG binding domain protein 5 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1344111 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868|PMID:28492532 12145444 ACAT2 acetyl-CoA acetyltransferase 2 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1354229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 12145444 ACAT2 acetyl-CoA acetyltransferase 2 gene DOID:10787 premature menopause ISO RGD:1359366 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 12145444 ACAT2 acetyl-CoA acetyltransferase 2 gene DOID:14723 beta-ketothiolase deficiency ISO RGD:1354229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:25741868|PMID:31268215 12145444 ACAT2 acetyl-CoA acetyltransferase 2 gene DOID:2349 arteriosclerosis ISO RGD:1552173 D RGD:9068941 20200609 RGD PMID:16675724|REF_RGD_ID:1601111 12145444 ACAT2 acetyl-CoA acetyltransferase 2 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1354229 D RGD:9068941 20200609 RGD DNA:polymorphisms: :41A>G, 734C>T, IVS4-57_58ins48bp PMID:16195894|REF_RGD_ID:1601112 12145444 ACAT2 acetyl-CoA acetyltransferase 2 gene DOID:630 genetic disease ISO RGD:1354229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145444 ACAT2 acetyl-CoA acetyltransferase 2 gene DOID:9000808 Hypercholesterolemia ISO RGD:1552173 D RGD:9068941 20200609 RGD PMID:11100118|REF_RGD_ID:1556516 12145444 ACAT2 acetyl-CoA acetyltransferase 2 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:1354229 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:14557872|REF_RGD_ID:1581921 12145444 ACAT2 acetyl-CoA acetyltransferase 2 gene DOID:9007685 Cytosolic Acetoacetyl-CoA Thiolase Deficiency ISO RGD:1354229 D RGD:7240710 20180130 OMIM 12145444 ACAT2 acetyl-CoA acetyltransferase 2 gene DOID:9007685 Cytosolic Acetoacetyl-CoA Thiolase Deficiency ISO RGD:1354229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acetyl-CoA acetyltransferase-2 deficiency PMID:25741868 12145457 LOC484867 cytochrome P450 4F3 gene DOID:630 genetic disease ISO RGD:1349362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145457 LOC484867 cytochrome P450 4F3 gene DOID:9000046 Poisoning ISO RGD:1349362 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20036648 12145523 TENT5B terminal nucleotidyltransferase 5B gene DOID:630 genetic disease ISO RGD:1344774 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145529 RCN2 reticulocalbin 2 gene DOID:2717 Bloom syndrome ISO RGD:733014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12145529 RCN2 reticulocalbin 2 gene DOID:5419 schizophrenia ISO RGD:733014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12145529 RCN2 reticulocalbin 2 gene DOID:630 genetic disease ISO RGD:733014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145529 RCN2 reticulocalbin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12145529 RCN2 reticulocalbin 2 gene DOID:9256 colorectal cancer ISO RGD:733014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 12145542 ANKRD31 ankyrin repeat domain 31 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1354086 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 12145542 ANKRD31 ankyrin repeat domain 31 gene DOID:2843 long QT syndrome ISO RGD:1354086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12145542 ANKRD31 ankyrin repeat domain 31 gene DOID:3323 Sandhoff disease ISO RGD:1354086 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 12145542 ANKRD31 ankyrin repeat domain 31 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 12145542 ANKRD31 ankyrin repeat domain 31 gene DOID:630 genetic disease ISO RGD:1354086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12145542 ANKRD31 ankyrin repeat domain 31 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12145576 NTM neurotrimin gene DOID:0111723 Jacobsen Syndrome ISO RGD:1603310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12145576 NTM neurotrimin gene DOID:5419 schizophrenia ISO RGD:1603310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12145576 NTM neurotrimin gene DOID:630 genetic disease ISO RGD:1603310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145576 NTM neurotrimin gene DOID:65 connective tissue disease ISO RGD:1603310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 12145576 NTM neurotrimin gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12145611 UBQLN4 ubiquilin 4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1344813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12145611 UBQLN4 ubiquilin 4 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1344813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 12145611 UBQLN4 ubiquilin 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1344813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12145611 UBQLN4 ubiquilin 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12145611 UBQLN4 ubiquilin 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12145611 UBQLN4 ubiquilin 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1344813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12145611 UBQLN4 ubiquilin 4 gene DOID:5812 MHC class II deficiency ISO RGD:1344813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12145611 UBQLN4 ubiquilin 4 gene DOID:630 genetic disease ISO RGD:1344813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145611 UBQLN4 ubiquilin 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12145626 S100A9 S100 calcium binding protein A9 gene DOID:0111940 immunodeficiency 42 ISO RGD:1352981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12145626 S100A9 S100 calcium binding protein A9 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1352981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12145626 S100A9 S100 calcium binding protein A9 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1352981 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12145626 S100A9 S100 calcium binding protein A9 gene DOID:10608 celiac disease ISO RGD:1352981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 12145626 S100A9 S100 calcium binding protein A9 gene DOID:11054 urinary bladder cancer ISO RGD:1352981 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:17970044|REF_RGD_ID:2316906 12145626 S100A9 S100 calcium binding protein A9 gene DOID:11054 urinary bladder cancer ISO RGD:620267 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:17970044|REF_RGD_ID:2316906 12145626 S100A9 S100 calcium binding protein A9 gene DOID:11054 urinary bladder cancer ISO RGD:733175 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:17970044|REF_RGD_ID:2316906 12145626 S100A9 S100 calcium binding protein A9 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1352981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12145626 S100A9 S100 calcium binding protein A9 gene DOID:1540 parathyroid carcinoma ISO RGD:1352981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12145626 S100A9 S100 calcium binding protein A9 gene DOID:5812 MHC class II deficiency ISO RGD:1352981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12145626 S100A9 S100 calcium binding protein A9 gene DOID:630 genetic disease ISO RGD:1352981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145626 S100A9 S100 calcium binding protein A9 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352981 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 12145626 S100A9 S100 calcium binding protein A9 gene DOID:820 myocarditis ISO RGD:1352981 D RGD:9068941 20200609 RGD PMID:19151078|REF_RGD_ID:2316903 12145626 S100A9 S100 calcium binding protein A9 gene DOID:9000058 Keloid ISO RGD:1352981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12145626 S100A9 S100 calcium binding protein A9 gene DOID:9000955 Acute Otitis Media ISO RGD:8709084 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mucosa of middle ear PMID:26711468|REF_RGD_ID:11553828 12145626 S100A9 S100 calcium binding protein A9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12145626 S100A9 S100 calcium binding protein A9 gene DOID:9002457 Experimental Arthritis ISO RGD:620267 D RGD:9068941 20200609 RGD PMID:8343166|REF_RGD_ID:633930 12145626 S100A9 S100 calcium binding protein A9 gene DOID:9002928 Colonic Neoplasms ISO RGD:1352981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12145626 S100A9 S100 calcium binding protein A9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12145642 SGPP1 sphingosine-1-phosphate phosphatase 1 gene DOID:630 genetic disease ISO RGD:1343984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145649 ARR3 arrestin 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12145649 ARR3 arrestin 3 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1350252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459|PMID:28492532 12145649 ARR3 arrestin 3 gene DOID:12849 autistic disorder ISO RGD:1350252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12145649 ARR3 arrestin 3 gene DOID:1826 epilepsy ISO RGD:1350252 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12145649 ARR3 arrestin 3 gene DOID:630 genetic disease ISO RGD:1350252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145649 ARR3 arrestin 3 gene DOID:9009093 Myopia 26, X-Linked, Female-Limited ISO RGD:1350252 D RGD:7240710 20190315 OMIM 12145649 ARR3 arrestin 3 gene DOID:9009093 Myopia 26, X-Linked, Female-Limited ISO RGD:1350252 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Myopia 26, X-linked, female-limited PMID:27829781|PMID:33482870 12145672 FAM181B family with sequence similarity 181 member B gene DOID:1059 intellectual disability ISO RGD:1605261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12145672 FAM181B family with sequence similarity 181 member B gene DOID:630 genetic disease ISO RGD:1605261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145678 WIPI2 WD repeat domain, phosphoinositide interacting 2 gene DOID:11372 megacolon ISO RGD:1606810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12145678 WIPI2 WD repeat domain, phosphoinositide interacting 2 gene DOID:630 genetic disease ISO RGD:1606810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145678 WIPI2 WD repeat domain, phosphoinositide interacting 2 gene DOID:9007433 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES ISO RGD:1606810 D RGD:7240710 20190918 OMIM 12145678 WIPI2 WD repeat domain, phosphoinositide interacting 2 gene DOID:9007433 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES ISO RGD:1606810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with short stature and variable skeletal anomalies PMID:25741868|PMID:30968111 12145710 DDN dendrin gene DOID:630 genetic disease ISO RGD:1345220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145729 UBALD2 UBA like domain containing 2 gene DOID:630 genetic disease ISO RGD:1605547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145735 RWDD1 RWD domain containing 1 gene DOID:0060163 body dysmorphic disorder ISO RGD:732573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 12145735 RWDD1 RWD domain containing 1 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:732573 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12145735 RWDD1 RWD domain containing 1 gene DOID:1059 intellectual disability ISO RGD:732573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 12145735 RWDD1 RWD domain containing 1 gene DOID:10907 microcephaly ISO RGD:732573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 12145735 RWDD1 RWD domain containing 1 gene DOID:1826 epilepsy ISO RGD:732573 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12145735 RWDD1 RWD domain containing 1 gene DOID:630 genetic disease ISO RGD:732573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145735 RWDD1 RWD domain containing 1 gene DOID:9000495 Tremor ISO RGD:732573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12145756 RALGAPB Ral GTPase activating protein non-catalytic subunit beta gene DOID:0060857 septooptic dysplasia ISO RGD:1603624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:25741868 12145756 RALGAPB Ral GTPase activating protein non-catalytic subunit beta gene DOID:1059 intellectual disability ISO RGD:1603624 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual disability 12145756 RALGAPB Ral GTPase activating protein non-catalytic subunit beta gene DOID:2234 focal epilepsy ISO RGD:1603624 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12145756 RALGAPB Ral GTPase activating protein non-catalytic subunit beta gene DOID:630 genetic disease ISO RGD:1603624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145756 RALGAPB Ral GTPase activating protein non-catalytic subunit beta gene DOID:9002189 High Myopia ISO RGD:1603624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12145756 RALGAPB Ral GTPase activating protein non-catalytic subunit beta gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1603624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12145756 RALGAPB Ral GTPase activating protein non-catalytic subunit beta gene DOID:9008582 Developmental Disease ISO RGD:1603624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12145810 NEUROD4 neuronal differentiation 4 gene DOID:630 genetic disease ISO RGD:1321332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145816 H2AC20 H2A clustered histone 20 gene DOID:1540 parathyroid carcinoma ISO RGD:1353344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12145816 H2AC20 H2A clustered histone 20 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12145821 PTGIS prostaglandin I2 synthase gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:736622 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 12145821 PTGIS prostaglandin I2 synthase gene DOID:0050860 colorectal adenoma susceptibility ISO RGD:736622 D RGD:9068941 20220204 RGD DNA:repeats:promoter: PMID:16537708|REF_RGD_ID:151347835 12145821 PTGIS prostaglandin I2 synthase gene DOID:0050866 oral squamous cell carcinoma ISO RGD:736622 D RGD:9068941 20220204 RGD mRNA,protein:decreased expression:mouth mucosa (human) PMID:30532780|REF_RGD_ID:151347832 12145821 PTGIS prostaglandin I2 synthase gene DOID:0060041 autism spectrum disorder ISO RGD:736622 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12145821 PTGIS prostaglandin I2 synthase gene DOID:10763 hypertension ISO RGD:736622 D RGD:9068941 20200609 RGD PMID:12372404|REF_RGD_ID:1298040 12145821 PTGIS prostaglandin I2 synthase gene DOID:10825 essential hypertension ISO RGD:736622 D RGD:7240710 20180130 OMIM 12145821 PTGIS prostaglandin I2 synthase gene DOID:10825 essential hypertension ISO RGD:736622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential hypertension PMID:12372404|PMID:25741868 12145821 PTGIS prostaglandin I2 synthase gene DOID:13832 patent ductus arteriosus ISO RGD:736622 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19336370 12145821 PTGIS prostaglandin I2 synthase gene DOID:219 colon cancer exacerbates ISO RGD:11183 D RGD:9068941 20220204 RGD PMID:26611322|REF_RGD_ID:11536046 12145821 PTGIS prostaglandin I2 synthase gene DOID:2316 brain ischemia ISO RGD:3438 D RGD:9068941 20200609 RGD PMID:16094316|REF_RGD_ID:8693629 12145821 PTGIS prostaglandin I2 synthase gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:736622 D RGD:9068941 20220204 RGD protein:decreased expression:lung (human) PMID:16314486|REF_RGD_ID:151347842 12145821 PTGIS prostaglandin I2 synthase gene DOID:630 genetic disease ISO RGD:736622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145821 PTGIS prostaglandin I2 synthase gene DOID:6432 pulmonary hypertension ISO RGD:3438 D RGD:9068941 20200609 RGD PMID:15684702|REF_RGD_ID:1580695 12145821 PTGIS prostaglandin I2 synthase gene DOID:6432 pulmonary hypertension susceptibility ISO RGD:3438 D RGD:9068941 20200609 RGD rat gene in a mouse model PMID:10359560|REF_RGD_ID:727270 12145821 PTGIS prostaglandin I2 synthase gene DOID:8283 peritonitis ameliorates ISO RGD:11183 D RGD:9068941 20220204 RGD PMID:26611322|REF_RGD_ID:11536046 12145821 PTGIS prostaglandin I2 synthase gene DOID:9000965 Neoplasm Metastasis exacerbates ISO RGD:736622 D RGD:9068941 20220204 RGD associated with colorectal cancer; protein:increased expression:colorectum (human) PMID:22109564|REF_RGD_ID:151347833 12145821 PTGIS prostaglandin I2 synthase gene DOID:9001048 Nociceptive Pain ameliorates ISO RGD:11183 D RGD:9068941 20220204 RGD PMID:26611322|REF_RGD_ID:11536046 12145821 PTGIS prostaglandin I2 synthase gene DOID:9003281 Spontaneous Abortions ISO RGD:736622 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12145821 PTGIS prostaglandin I2 synthase gene DOID:9005172 Lung Neoplasms ISO RGD:736622 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11830527 12145821 PTGIS prostaglandin I2 synthase gene DOID:9007491 Childhood Schizophrenia ISO RGD:736622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 12145927 DUSP3 dual specificity phosphatase 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 12145927 DUSP3 dual specificity phosphatase 3 gene DOID:630 genetic disease ISO RGD:1345861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145934 HOXC6 homeobox C6 gene DOID:630 genetic disease ISO RGD:1348360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12145934 HOXC6 homeobox C6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12145944 MFN2 mitofusin 2 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:732569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 12145944 MFN2 mitofusin 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732569 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10732809|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26968897|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29674596|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30649465|PMID:30882371|PMID:31127728|PMID:31188717|PMID:31315766|PMID:31453851|PMID:31664033|PMID:31673878|PMID:32376792|PMID:32963807|PMID:33415332|PMID:8406488|PMID:9333264|PMID:9409358|PMID:9536098 12145944 MFN2 mitofusin 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732569 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10732809|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26968897|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29674596|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30649465|PMID:30882371|PMID:31127728|PMID:31188717|PMID:31315766|PMID:31453851|PMID:31664033|PMID:31673878|PMID:32376792|PMID:32963807|PMID:33415332|PMID:8406488|PMID:9333264|PMID:9409358|PMID:9536098 12145944 MFN2 mitofusin 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732569 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10732809|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21735565|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30642740|PMID:30649465|PMID:30882371|PMID:31108397|PMID:31127728|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:34060689|PMID:34232518|PMID:34366782|PMID:34721278|PMID:8406488|PMID:9409358|PMID:9536098 12145944 MFN2 mitofusin 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732569 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:10732809|PMID:12601114|PMID:15064763|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17940179|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:20819609|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28902413|PMID:29068134|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30442897|PMID:30642740|PMID:30649465|PMID:30724636|PMID:30807887|PMID:30882371|PMID:31108397|PMID:31127728|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34060689|PMID:34193129|PMID:34232518|PMID:34366782|PMID:34721278|PMID:8406488|PMID:9409358|PMID:9536098 12145944 MFN2 mitofusin 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10732809|PMID:12601114|PMID:15064763|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17940179|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:20819609|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28902413|PMID:29068134|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30442897|PMID:30642740|PMID:30649465|PMID:30724636|PMID:30807887|PMID:30882371|PMID:31108397|PMID:31127728|PMID:31130284|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34060689|PMID:34193129|PMID:34232518|PMID:34366782|PMID:34721278|PMID:35938991|PMID:8406488|PMID:9409358|PMID:9536098 12145944 MFN2 mitofusin 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:732569 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:15549395|PMID:16437557|PMID:16762064|PMID:16835246|PMID:20301684|PMID:20350294|PMID:20587496|PMID:21508331|PMID:21707411|PMID:22206013|PMID:22492563|PMID:22762946|PMID:24604904|PMID:24819634|PMID:25448007|PMID:25741868|PMID:25802885|PMID:26085578|PMID:26467025|PMID:27549087|PMID:28063088|PMID:28492532|PMID:29898954|PMID:31673878|PMID:32376792 12145944 MFN2 mitofusin 2 gene DOID:0050753 cerebellar ataxia ISO RGD:732569 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:15064763|PMID:16043786|PMID:16835246|PMID:17296794|PMID:17959936|PMID:18316077|PMID:19812251|PMID:20008656|PMID:21508331|PMID:22492563|PMID:24126688|PMID:24957169|PMID:25741868|PMID:26467025|PMID:26801520|PMID:27100445|PMID:28492532|PMID:28660751|PMID:29898954 12145944 MFN2 mitofusin 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732569 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12145944 MFN2 mitofusin 2 gene DOID:0080068 Charcot-Marie-Tooth disease type 6 ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, TYPE 6 | ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY AND OPTIC ATROPHY PMID:15064763|PMID:15549395|PMID:16043786|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18946002|PMID:18957892|PMID:19889647|PMID:20008656|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21707411|PMID:21715711|PMID:21840889|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:23456260|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24604904|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26257172|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26801520|PMID:26955893|PMID:27549087|PMID:27582484|PMID:27863451|PMID:28063088|PMID:28251916|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30340945|PMID:30649465|PMID:31108397|PMID:31130284|PMID:31188717|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34366782|PMID:35938991|PMID:8406488 12145944 MFN2 mitofusin 2 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:26401075|REF_RGD_ID:13204743 12145944 MFN2 mitofusin 2 gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:732569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 PMID:28492532 12145944 MFN2 mitofusin 2 gene DOID:0110155 Charcot-Marie-Tooth disease type 2A2A ISO RGD:732569 D RGD:7240710 20190703 OMIM 12145944 MFN2 mitofusin 2 gene DOID:0110155 Charcot-Marie-Tooth disease type 2A2A ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A2A PMID:10732809|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:19889647|PMID:20008656|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:23456260|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24126688|PMID:24473995|PMID:24604904|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26257172|PMID:26307494|PMID:26316991|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26801520|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30340945|PMID:30649465|PMID:31108397|PMID:31130284|PMID:31188717|PMID:31211173|PMID:31372974|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34366782|PMID:35938991|PMID:8406488 12145944 MFN2 mitofusin 2 gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:732569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:16199547|PMID:16714318|PMID:18425620|PMID:21715711|PMID:22206013|PMID:26955893|PMID:28492532 12145944 MFN2 mitofusin 2 gene DOID:0111557 Charcot-Marie-Tooth disease type 2A2B ISO RGD:732569 D RGD:7240710 20190315 OMIM 12145944 MFN2 mitofusin 2 gene DOID:0111557 Charcot-Marie-Tooth disease type 2A2B ISO RGD:732569 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2A2B | ClinVar Annotator: match by term: Severe early-onset axonal neuropathy due to MFN2 deficiency PMID:15064763|PMID:16043786|PMID:16199547|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18946002|PMID:18957892|PMID:19889647|PMID:20008656|PMID:20335458|PMID:20350294|PMID:20482598|PMID:21326314|PMID:21508331|PMID:21531138|PMID:21576112|PMID:21715711|PMID:21840889|PMID:22492563|PMID:22494076|PMID:23147504|PMID:23456260|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24126688|PMID:24803844|PMID:24819634|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25614874|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26257172|PMID:26307494|PMID:26316991|PMID:26382835|PMID:26454100|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26801520|PMID:26955893|PMID:28215760|PMID:28251916|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29625556|PMID:29790872|PMID:29858556|PMID:30158064|PMID:30649465|PMID:31673878|PMID:31701603|PMID:32214227|PMID:32399692|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34193129|PMID:8406488 12145944 MFN2 mitofusin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:198122151|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28166811|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30882371|PMID:31188717|PMID:31211173|PMID:31673878|PMID:32376792|PMID:32963807|PMID:8406488|PMID:9409358|PMID:9536098 12145944 MFN2 mitofusin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732569 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:198122151|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28166811|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30882371|PMID:31188717|PMID:31211173|PMID:31673878|PMID:32376792|PMID:32963807|PMID:33415332|PMID:8406488|PMID:9409358|PMID:9536098 12145944 MFN2 mitofusin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732569 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26968897|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30882371|PMID:31188717|PMID:31453851|PMID:31673878|PMID:32376792|PMID:32963807|PMID:33415332|PMID:8406488|PMID:9409358|PMID:9536098 12145944 MFN2 mitofusin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732569 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30442897|PMID:30882371|PMID:31188717|PMID:31453851|PMID:31673878|PMID:31832804|PMID:32376792|PMID:32963807|PMID:33415332|PMID:34060689|PMID:34232518|PMID:34366782|PMID:34721278|PMID:8406488|PMID:9409358|PMID:9536098 12145944 MFN2 mitofusin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732569 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30649465|PMID:30807887|PMID:30882371|PMID:31127728|PMID:31188717|PMID:31211173|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34060689|PMID:34232518|PMID:34366782|PMID:34721278|PMID:8406488|PMID:9409358|PMID:9536098 12145944 MFN2 mitofusin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30649465|PMID:30807887|PMID:30882371|PMID:31127728|PMID:31130284|PMID:31188717|PMID:31211173|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34060689|PMID:34232518|PMID:34366782|PMID:34721278|PMID:35938991|PMID:8406488|PMID:9409358|PMID:9536098 12145944 MFN2 mitofusin 2 gene DOID:10652 Alzheimer's disease ISO RGD:628843 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:28302704|REF_RGD_ID:12910737 12145944 MFN2 mitofusin 2 gene DOID:10652 Alzheimer's disease ISO RGD:732569 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus (human) PMID:19605646|REF_RGD_ID:7800727 12145944 MFN2 mitofusin 2 gene DOID:10763 hypertension ISO RGD:628843 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (rat) PMID:25464244|REF_RGD_ID:13204764 12145944 MFN2 mitofusin 2 gene DOID:10763 hypertension treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:27847271|REF_RGD_ID:12910764 12145944 MFN2 mitofusin 2 gene DOID:10907 microcephaly ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:15064763|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991 12145944 MFN2 mitofusin 2 gene DOID:11716 prediabetes syndrome ISO RGD:628843 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle (rat) PMID:27521417|REF_RGD_ID:12910830 12145944 MFN2 mitofusin 2 gene DOID:11720 distal myopathy ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Distal muscle weakness PMID:15064763|PMID:15549395|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25403865|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:32963807|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991 12145944 MFN2 mitofusin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:732570 D RGD:9068941 20200609 RGD with Mfn1 knockout PMID:22052916|REF_RGD_ID:11251967 12145944 MFN2 mitofusin 2 gene DOID:13001 carotid stenosis treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:15322553|REF_RGD_ID:1304351 12145944 MFN2 mitofusin 2 gene DOID:1596 depressive disorder treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:22244747|REF_RGD_ID:13204844 12145944 MFN2 mitofusin 2 gene DOID:1969 cerebral palsy ISO RGD:732569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12145944 MFN2 mitofusin 2 gene DOID:224 transient cerebral ischemia ISO RGD:628843 D RGD:9068941 20200609 RGD protein:decreased expression:brain (rat) PMID:25147362|REF_RGD_ID:13204807 12145944 MFN2 mitofusin 2 gene DOID:2477 motor peripheral neuropathy ISO RGD:732569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:25741868|PMID:26467025|PMID:28492532 12145944 MFN2 mitofusin 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732569 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:22975021 12145944 MFN2 mitofusin 2 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:24912636|REF_RGD_ID:13204824 12145944 MFN2 mitofusin 2 gene DOID:4752 multiple system atrophy ISO RGD:732569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple system atrophy, cerebellar type PMID:25741868 12145944 MFN2 mitofusin 2 gene DOID:574 peripheral nervous system disease ISO RGD:732569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10732809|PMID:15064763|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:18602827|PMID:21149811|PMID:21772703|PMID:22492563|PMID:24863639|PMID:24957169|PMID:25741868|PMID:26467025|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27863451|PMID:28286897|PMID:28492532|PMID:28660751|PMID:30340945|PMID:31211173|PMID:31372974|PMID:31832804|PMID:34193129 12145944 MFN2 mitofusin 2 gene DOID:5844 myocardial infarction treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:20886221|REF_RGD_ID:12738232 12145944 MFN2 mitofusin 2 gene DOID:630 genetic disease ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15064763|PMID:16043786|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:17215403|PMID:17296794|PMID:17444508|PMID:17576681|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19889647|PMID:20008656|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21707411|PMID:21715711|PMID:21840889|PMID:22442078|PMID:22492563|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28251916|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29453956|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:30011089|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30649465|PMID:31108397|PMID:31130284|PMID:31188717|PMID:31372974|PMID:31453851|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34060689|PMID:34232518|PMID:34366782|PMID:34721278|PMID:35938991|PMID:8406488|PMID:9536098 12145944 MFN2 mitofusin 2 gene DOID:7319 axonal neuropathy ISO RGD:732569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy PMID:18458227|PMID:20008656|PMID:20350294|PMID:20482598|PMID:22492563|PMID:24033266|PMID:24126688|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:28251916|PMID:28414270|PMID:28492532|PMID:29358271|PMID:30158064|PMID:33415332|PMID:33502018 12145944 MFN2 mitofusin 2 gene DOID:870 neuropathy ISO RGD:732569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10732809|PMID:15064763|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:18602827|PMID:21149811|PMID:21772703|PMID:22492563|PMID:24863639|PMID:24957169|PMID:25741868|PMID:26467025|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27863451|PMID:28286897|PMID:28492532|PMID:28660751|PMID:30340945|PMID:31211173|PMID:31372974|PMID:31832804|PMID:34193129 12145944 MFN2 mitofusin 2 gene DOID:8947 diabetic retinopathy ISO RGD:628843 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression:retina (rat) PMID:28487236|REF_RGD_ID:12910715 12145944 MFN2 mitofusin 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:628843 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (rat) PMID:26079325|REF_RGD_ID:12437066 12145944 MFN2 mitofusin 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:28404953|REF_RGD_ID:12910735 12145944 MFN2 mitofusin 2 gene DOID:9000304 Manganese Poisoning ISO RGD:628843 D RGD:9068941 20200609 RGD protein:decreased expression:striatum (rat) PMID:28232070|REF_RGD_ID:12910738 12145944 MFN2 mitofusin 2 gene DOID:9001276 Failure to Thrive ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:15064763|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991 12145944 MFN2 mitofusin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:628843 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver (rat) PMID:25369251|REF_RGD_ID:13204798 12145944 MFN2 mitofusin 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:26882442|REF_RGD_ID:12910839 12145944 MFN2 mitofusin 2 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:628843 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver (rat) PMID:24898700|REF_RGD_ID:13204829 12145944 MFN2 mitofusin 2 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:27363631|REF_RGD_ID:12910833 12145944 MFN2 mitofusin 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:732569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27997345 12145944 MFN2 mitofusin 2 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:628843 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:26123583|PMID:27997345|REF_RGD_ID:11053290|REF_RGD_ID:12910740 12145944 MFN2 mitofusin 2 gene DOID:9002211 Hyperalgesia ISO RGD:628843 D RGD:9068941 20200609 RGD mRNA:decreased expression:spinal cord (rat) PMID:28587902|REF_RGD_ID:12910704 12145944 MFN2 mitofusin 2 gene DOID:9002211 Hyperalgesia ISO RGD:732569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28587902 12145944 MFN2 mitofusin 2 gene DOID:9003139 Cardiac Fibrosis ISO RGD:628843 D RGD:9068941 20200609 RGD protein:decreased expression:heart (rat) PMID:26692091|REF_RGD_ID:11557238 12145944 MFN2 mitofusin 2 gene DOID:9003936 Cardiomegaly ISO RGD:628843 D RGD:9068941 20200609 RGD associated with Hypertension:protein:decreased expression:heart (rat) PMID:27085127|REF_RGD_ID:12910835 12145944 MFN2 mitofusin 2 gene DOID:9003936 Cardiomegaly ISO RGD:732569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17499311 12145944 MFN2 mitofusin 2 gene DOID:9003936 Cardiomegaly ISO RGD:732570 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart (mouse) PMID:27565029|REF_RGD_ID:12910768 12145944 MFN2 mitofusin 2 gene DOID:9003936 Cardiomegaly treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:27847271|REF_RGD_ID:12910764 12145944 MFN2 mitofusin 2 gene DOID:9003936 Cardiomegaly treatment ISO RGD:732570 D RGD:9068941 20200609 RGD PMID:28503736|REF_RGD_ID:12910714 12145944 MFN2 mitofusin 2 gene DOID:9003984 Hyperpigmentation ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyperpigmentation PMID:15064763|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991 12145944 MFN2 mitofusin 2 gene DOID:9004484 Sepsis ISO RGD:628843 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:24720571|REF_RGD_ID:13204837 12145944 MFN2 mitofusin 2 gene DOID:9004551 Charcot-Marie-Tooth Disease Type 2A2 ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2A2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A2 PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15136675|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:23456260|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26801520|PMID:26955893|PMID:26968460|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30340945|PMID:30649465|PMID:30882371|PMID:31108397|PMID:31127728|PMID:31130284|PMID:31188717|PMID:31211173|PMID:31372974|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34232518|PMID:34366782|PMID:34721278|PMID:35938991|PMID:8406488|PMID:9409358 12145944 MFN2 mitofusin 2 gene DOID:9004610 Acute Lung Injury ISO RGD:628843 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (rat) PMID:25560372|REF_RGD_ID:12437080 12145944 MFN2 mitofusin 2 gene DOID:9004739 Cicatrix ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Scarring PMID:15064763|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991 12145944 MFN2 mitofusin 2 gene DOID:9005526 Pulmonary Edema of Mountaineers ISO RGD:628843 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (rat) PMID:23517027|REF_RGD_ID:12738217 12145944 MFN2 mitofusin 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628843 D RGD:9068941 20200609 RGD protein:increased expression:heart, mitochondrion (rat) PMID:27998959|REF_RGD_ID:12910739 12145944 MFN2 mitofusin 2 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:28483572|REF_RGD_ID:12910731 12145944 MFN2 mitofusin 2 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:628843 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung (rat) PMID:26485208|REF_RGD_ID:12910856 12145944 MFN2 mitofusin 2 gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:27491814|REF_RGD_ID:12910831 12145944 MFN2 mitofusin 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:732569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20886221 12145944 MFN2 mitofusin 2 gene DOID:9007661 Dwarfism ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Short stature PMID:15064763|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991 12145944 MFN2 mitofusin 2 gene DOID:9007692 Insulin Resistance treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:24715199|REF_RGD_ID:13204838 12145944 MFN2 mitofusin 2 gene DOID:9007697 Charcot-Marie-Tooth Disease Type 6A ISO RGD:732569 D RGD:7240710 20190911 OMIM 12145944 MFN2 mitofusin 2 gene DOID:9007697 Charcot-Marie-Tooth Disease Type 6A ISO RGD:732569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HMSN VIA | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY PMID:10732809|PMID:15064763|PMID:16043786|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:18458227|PMID:18602827|PMID:19889647|PMID:20008656|PMID:20350294|PMID:20482598|PMID:21149811|PMID:21576112|PMID:21772703|PMID:22492563|PMID:22494076|PMID:23456260|PMID:24033266|PMID:24126688|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26316991|PMID:26454100|PMID:26467025|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27863451|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29358271|PMID:30158064|PMID:30340945|PMID:31211173|PMID:31372974|PMID:31832804|PMID:33415332|PMID:33502018 12145944 MFN2 mitofusin 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:24721408|REF_RGD_ID:13204835 12145944 MFN2 mitofusin 2 gene DOID:9008086 Developmental Disabilities ISO RGD:732569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16714318|PMID:21715711|PMID:26955893|PMID:28492532 12145944 MFN2 mitofusin 2 gene DOID:9008563 Charcot-Marie-Tooth Disease, Type 2A ISO RGD:732569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HMSN IIA PMID:18458227|PMID:20008656|PMID:20350294|PMID:20482598|PMID:22492563|PMID:24033266|PMID:24126688|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:28251916|PMID:28414270|PMID:28492532|PMID:29358271|PMID:30158064|PMID:33415332|PMID:33502018 12145944 MFN2 mitofusin 2 gene DOID:9008824 Sarcopenia ISO RGD:628843 D RGD:9068941 20200609 RGD protein:increased expression:extensor digitorum longus (rat) PMID:23220115|REF_RGD_ID:12738219 12145944 MFN2 mitofusin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732569 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle tissue (human) PMID:16123358|REF_RGD_ID:13204820 12145944 MFN2 mitofusin 2 gene DOID:9452 fatty liver disease ISO RGD:628843 D RGD:9068941 20200609 RGD protein:decreased expression:liver (rat) PMID:24663492|REF_RGD_ID:12453042 12145944 MFN2 mitofusin 2 gene DOID:9970 obesity ISO RGD:628843 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:25336449|REF_RGD_ID:12880438 12145944 MFN2 mitofusin 2 gene DOID:9970 obesity ISO RGD:732569 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle tissue (human) PMID:12598526|REF_RGD_ID:1601412 12145990 RIPK4 receptor interacting serine/threonine kinase 4 gene DOID:0060055 popliteal pterygium syndrome ISO RGD:1323281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Popliteal pterygium syndrome 12145990 RIPK4 receptor interacting serine/threonine kinase 4 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1323281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12145990 RIPK4 receptor interacting serine/threonine kinase 4 gene DOID:0110266 cataract 9 multiple types ISO RGD:1323281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12145990 RIPK4 receptor interacting serine/threonine kinase 4 gene DOID:630 genetic disease ISO RGD:1323281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12145990 RIPK4 receptor interacting serine/threonine kinase 4 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1323281 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12145990 RIPK4 receptor interacting serine/threonine kinase 4 gene DOID:9001939 Bartsocas-Papas Syndrome 1 ISO RGD:1323281 D RGD:7240710 20180130 OMIM 12145990 RIPK4 receptor interacting serine/threonine kinase 4 gene DOID:9001939 Bartsocas-Papas Syndrome 1 ISO RGD:1323281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1 PMID:10925380|PMID:15264293|PMID:22197488|PMID:22197489|PMID:23074676|PMID:23610050|PMID:25326635|PMID:25741868|PMID:26752647|PMID:28492532|PMID:28940926 12145990 RIPK4 receptor interacting serine/threonine kinase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12145990 RIPK4 receptor interacting serine/threonine kinase 4 gene DOID:9008620 Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome ISO RGD:1323281 D RGD:7240710 20221207 OMIM 12145990 RIPK4 receptor interacting serine/threonine kinase 4 gene DOID:9008620 Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome ISO RGD:1323281 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Curly hair, ankyloblepharon, nail dysplasia syndrome PMID:23610050|PMID:25326635|PMID:25741868|PMID:26129644|PMID:28492532|PMID:28940926 12145990 RIPK4 receptor interacting serine/threonine kinase 4 gene DOID:9263 homocystinuria ISO RGD:1323281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12145990 RIPK4 receptor interacting serine/threonine kinase 4 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1323281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12146003 SP9 Sp9 transcription factor gene DOID:0090022 split hand-foot malformation 5 ISO RGD:2303677 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12146003 SP9 Sp9 transcription factor gene DOID:1059 intellectual disability ISO RGD:2303677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities 12146003 SP9 Sp9 transcription factor gene DOID:12849 autistic disorder ISO RGD:2303677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior 12146003 SP9 Sp9 transcription factor gene DOID:630 genetic disease ISO RGD:2303677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146003 SP9 Sp9 transcription factor gene DOID:9001793 Generalized Epilepsy ISO RGD:2303677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 12146003 SP9 Sp9 transcription factor gene DOID:9005603 Muscle Hypotonia ISO RGD:2303677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular hypotonia 12146010 ZBTB16 zinc finger and BTB domain containing 16 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1352454 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23208507 12146010 ZBTB16 zinc finger and BTB domain containing 16 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1352454 D RGD:9068941 20200609 RGD PMID:8387545|REF_RGD_ID:1599922 12146010 ZBTB16 zinc finger and BTB domain containing 16 gene DOID:0080700 caudal regression syndrome ISO RGD:727921 D RGD:9068941 20210226 RGD PMID:27727328|REF_RGD_ID:40924666 12146010 ZBTB16 zinc finger and BTB domain containing 16 gene DOID:1059 intellectual disability ISO RGD:1352454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12146010 ZBTB16 zinc finger and BTB domain containing 16 gene DOID:1148 polydactyly ISO RGD:727921 D RGD:9068941 20200609 RGD DNA:deletion:intron (rat) PMID:19191224|REF_RGD_ID:2312786 12146010 ZBTB16 zinc finger and BTB domain containing 16 gene DOID:630 genetic disease ISO RGD:1352454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12146010 ZBTB16 zinc finger and BTB domain containing 16 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352454 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 12146010 ZBTB16 zinc finger and BTB domain containing 16 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1352454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12146010 ZBTB16 zinc finger and BTB domain containing 16 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1352454 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 12146010 ZBTB16 zinc finger and BTB domain containing 16 gene DOID:9006347 Skeletal Defects, Genital Hypoplasia, And Mental Retardation ISO RGD:1352454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT PMID:11891687|PMID:18611983 12146028 ANKRD40 ankyrin repeat domain 40 gene DOID:630 genetic disease ISO RGD:1602991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146038 HPSE heparanase gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:736250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 12146038 HPSE heparanase gene DOID:1909 melanoma ISO RGD:736250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22240343 12146038 HPSE heparanase gene DOID:2527 nephrosis ISO RGD:736250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16899518 12146038 HPSE heparanase gene DOID:2986 IgA glomerulonephritis ISO RGD:736250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 12146038 HPSE heparanase gene DOID:630 genetic disease ISO RGD:736250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146038 HPSE heparanase gene DOID:9000965 Neoplasm Metastasis ISO RGD:736250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22240343 12146038 HPSE heparanase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15095483|PMID:18458672 12146038 HPSE heparanase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22240343 12146038 HPSE heparanase gene DOID:9008939 Breast Neoplasms ISO RGD:736250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16391819 12146054 MB21D2 Mab-21 domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1601820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12146054 MB21D2 Mab-21 domain containing 2 gene DOID:630 genetic disease ISO RGD:1601820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146063 MIR410 microRNA mir-410 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1603784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 12146063 MIR410 microRNA mir-410 gene DOID:1324 lung cancer ISO RGD:1608191 D RGD:9068941 20220715 RGD RNA:increased expression:lung (human) PMID:20237410|REF_RGD_ID:152995484 12146063 MIR410 microRNA mir-410 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1603784 D RGD:9068941 20211224 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12146063 MIR410 microRNA mir-410 gene DOID:9005172 Lung Neoplasms ISO RGD:1603784 D RGD:9068941 20211224 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12146063 MIR410 microRNA mir-410 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603784 D RGD:9068941 20211224 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12146063 MIR410 microRNA mir-410 gene DOID:9007787 Carcinoid Tumor ISO RGD:1603784 D RGD:9068941 20211224 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12146063 MIR410 microRNA mir-410 gene DOID:9452 fatty liver disease ISO RGD:1603784 D RGD:9068941 20211224 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12146109 GPX5 glutathione peroxidase 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1352844 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12146109 GPX5 glutathione peroxidase 5 gene DOID:11372 megacolon ISO RGD:1352844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12146109 GPX5 glutathione peroxidase 5 gene DOID:630 genetic disease ISO RGD:1352844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146118 PPP1R21 protein phosphatase 1 regulatory subunit 21 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:1605582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 12146118 PPP1R21 protein phosphatase 1 regulatory subunit 21 gene DOID:630 genetic disease ISO RGD:1605582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146118 PPP1R21 protein phosphatase 1 regulatory subunit 21 gene DOID:9002752 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES ISO RGD:1605582 D RGD:7240710 20210825 OMIM 12146118 PPP1R21 protein phosphatase 1 regulatory subunit 21 gene DOID:9002752 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES ISO RGD:1605582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities PMID:25741868|PMID:28940097|PMID:29808498|PMID:30520571|PMID:32985083 12146118 PPP1R21 protein phosphatase 1 regulatory subunit 21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:30057029 12146144 YTHDC2 YTH N6-methyladenosine RNA binding protein C2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348696 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12146144 YTHDC2 YTH N6-methyladenosine RNA binding protein C2 gene DOID:10283 prostate cancer ISO RGD:1348696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12146144 YTHDC2 YTH N6-methyladenosine RNA binding protein C2 gene DOID:14228 oligospermia ISO RGD:1348696 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:34822792 12146144 YTHDC2 YTH N6-methyladenosine RNA binding protein C2 gene DOID:630 genetic disease ISO RGD:1348696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146144 YTHDC2 YTH N6-methyladenosine RNA binding protein C2 gene DOID:9002321 Teratozoospermia ISO RGD:1348696 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:34822792 12146144 YTHDC2 YTH N6-methyladenosine RNA binding protein C2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12146144 YTHDC2 YTH N6-methyladenosine RNA binding protein C2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348696 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12146177 RRAGD Ras related GTP binding D gene DOID:630 genetic disease ISO RGD:1320660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146177 RRAGD Ras related GTP binding D gene DOID:9005972 Renal Hypomagnesemia 7 with or without Dilated Cardiomyopathy ISO RGD:1320660 D RGD:7240710 20221214 OMIM 12146177 RRAGD Ras related GTP binding D gene DOID:9005972 Renal Hypomagnesemia 7 with or without Dilated Cardiomyopathy ISO RGD:1320660 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HYPOMAGNESEMIA 7, RENAL, WITH DILATED CARDIOMYOPATHY | ClinVar Annotator: match by term: Hypomagnesemia 7, renal, with or without dilated cardiomyopathy PMID:34607910 12146188 RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:0060237 Warburg micro syndrome IAGP D RGD:12801476 20210603 OMIA Polyneuropathy, RAB3GAP1-related PMID:9240838|PMID:9549867|PMID:20638305|PMID:9684979|PMID:9862062|PMID:9928831|PMID:26596647|PMID:26607784|PMID:26968732 12146188 RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:0060237 Warburg micro syndrome ISO RGD:1604828 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:35196747 12146188 RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:0060591 WHIM syndrome 1 ISO RGD:1604828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 12146188 RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:0110716 Warburg micro syndrome 1 ISO RGD:1604828 D RGD:7240710 20180228 OMIM 12146188 RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:0110716 Warburg micro syndrome 1 ISO RGD:1604828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome 1 PMID:15216543|PMID:15696165|PMID:16199547|PMID:17351351|PMID:17576681|PMID:18286824|PMID:18414213|PMID:20512159|PMID:20584031|PMID:23176487|PMID:23420520|PMID:25326635|PMID:25741868|PMID:26138576|PMID:26421802|PMID:26467025|PMID:26852512|PMID:28454995|PMID:28492532|PMID:29300443|PMID:29878067|PMID:30202406|PMID:31319225|PMID:32740904|PMID:32870266|PMID:8249951|PMID:9536098 12146188 RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:11383 cryptorchidism ISO RGD:1604828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptorchidism 12146188 RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:13938 amenorrhea ISO RGD:1604828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:25741868|PMID:26467025|PMID:28492532|PMID:32870266 12146188 RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:630 genetic disease ISO RGD:1604828 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15696165|PMID:16199547|PMID:17351351|PMID:20512159|PMID:23176487|PMID:23420520|PMID:25741868|PMID:26852512|PMID:28492532|PMID:29300443|PMID:31319225|PMID:34702808 12146188 RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:9000980 Martsolf Syndrome 2 ISO RGD:1604828 D RGD:7240710 20210728 OMIM 12146188 RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:9000980 Martsolf Syndrome 2 ISO RGD:1604828 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 2 PMID:23420520|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29300443|PMID:30730599 12146188 RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:9006949 Martsolf Syndrome ISO RGD:1604828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:29300443 12146224 GTF3A general transcription factor IIIA gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12146224 GTF3A general transcription factor IIIA gene DOID:630 genetic disease ISO RGD:732489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146243 CBR4 carbonyl reductase 4 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1602997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:22499340|PMID:28492532|PMID:29068549 12146243 CBR4 carbonyl reductase 4 gene DOID:1793 pancreatic cancer ISO RGD:1602997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 PMID:25741868|PMID:28492532 12146243 CBR4 carbonyl reductase 4 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1602997 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:17576681|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9536098 12146243 CBR4 carbonyl reductase 4 gene DOID:4905 pancreatic carcinoma ISO RGD:1602997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:17194196|PMID:28166811|PMID:28492532 12146243 CBR4 carbonyl reductase 4 gene DOID:630 genetic disease ISO RGD:1602997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12146243 CBR4 carbonyl reductase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602997 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25741868|PMID:28492532 12146243 CBR4 carbonyl reductase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28166811|PMID:28492532 12146257 RILPL1 Rab interacting lysosomal protein like 1 gene DOID:0081300 oculopharyngodistal myopathy 4 ISO RGD:1602163 D RGD:7240710 20220406 OMIM 12146257 RILPL1 Rab interacting lysosomal protein like 1 gene DOID:630 genetic disease ISO RGD:1602163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146277 HDHD5 haloacid dehalogenase like hydrolase domain containing 5 gene DOID:0111996 immunodeficiency 51 ISO RGD:1315242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12146277 HDHD5 haloacid dehalogenase like hydrolase domain containing 5 gene DOID:630 genetic disease ISO RGD:1315242 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146277 HDHD5 haloacid dehalogenase like hydrolase domain containing 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12146277 HDHD5 haloacid dehalogenase like hydrolase domain containing 5 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1315242 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12146288 SDC2 syndecan 2 gene DOID:630 genetic disease ISO RGD:734386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146288 SDC2 syndecan 2 gene DOID:674 cleft palate ISO RGD:734386 D RGD:9068941 20200609 RGD PMID:18716610|REF_RGD_ID:12798509 12146288 SDC2 syndecan 2 gene DOID:9296 cleft lip ISO RGD:734386 D RGD:9068941 20200609 RGD PMID:18716610|REF_RGD_ID:12798509 12146288 SDC2 syndecan 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734386 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:14976204|REF_RGD_ID:2311706 12146301 CTH cystathionine gamma-lyase gene DOID:0090142 cystathioninuria ISO RGD:732084 D RGD:7240710 20180130 OMIM 12146301 CTH cystathionine gamma-lyase gene DOID:0090142 cystathioninuria ISO RGD:732084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystathioninuria | ClinVar Annotator: match by term: Gamma-cystathionase deficiency PMID:12574942|PMID:15151507|PMID:18476726|PMID:19019829|PMID:19428278|PMID:20584029|PMID:23555315|PMID:25741868|PMID:28492532 12146301 CTH cystathionine gamma-lyase gene DOID:1059 intellectual disability ISO RGD:732084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12146301 CTH cystathionine gamma-lyase gene DOID:1909 melanoma ISO RGD:732084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25205294 12146301 CTH cystathionine gamma-lyase gene DOID:630 genetic disease ISO RGD:732084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146301 CTH cystathionine gamma-lyase gene DOID:83 cataract ISO RGD:2443 D RGD:9068941 20200609 RGD PMID:15683713|REF_RGD_ID:1600763 12146301 CTH cystathionine gamma-lyase gene DOID:9002231 Fetal Growth Retardation ISO RGD:732084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28157488 12146301 CTH cystathionine gamma-lyase gene DOID:9007748 Retinal Neovascularization ISO RGD:732084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27273718 12146301 CTH cystathionine gamma-lyase gene DOID:9252 amino acid metabolic disorder ISO RGD:732084 D RGD:9068941 20200609 RGD cystathioninuria, OMIM:219500, 940delCT, T67I, Q240E PMID:12574942|REF_RGD_ID:1600761 12146301 CTH cystathionine gamma-lyase gene DOID:9279 hyperhomocysteinemia ISO RGD:732084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Homocysteine, total plasma, elevated PMID:15151507 12146317 KIAA0586 KIAA0586 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1323087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868 12146317 KIAA0586 KIAA0586 gene DOID:0050777 Joubert syndrome ISO RGD:1323087 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:20301500|PMID:24033266|PMID:25741868|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362 12146317 KIAA0586 KIAA0586 gene DOID:0050778 Meckel syndrome ISO RGD:1323087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 12146317 KIAA0586 KIAA0586 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1323087 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:20301500|PMID:24033266|PMID:25741868|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362 12146317 KIAA0586 KIAA0586 gene DOID:0110096 short-rib thoracic dysplasia 14 with polydactyly ISO RGD:1323087 D RGD:7240710 20180130 OMIM 12146317 KIAA0586 KIAA0586 gene DOID:0110096 short-rib thoracic dysplasia 14 with polydactyly ISO RGD:1323087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 14 with polydactyly PMID:17576681|PMID:20301500|PMID:2080096|PMID:24033266|PMID:25741868|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362|PMID:9536098 12146317 KIAA0586 KIAA0586 gene DOID:0110992 Joubert syndrome 23 ISO RGD:1323087 D RGD:7240710 20180130 OMIM 12146317 KIAA0586 KIAA0586 gene DOID:0110992 Joubert syndrome 23 ISO RGD:1323087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 23 PMID:16199547|PMID:17576681|PMID:20301500|PMID:2080096|PMID:24033266|PMID:25640679|PMID:25741868|PMID:25954003|PMID:26026149|PMID:2609613|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:26938784|PMID:27618451|PMID:28125082|PMID:28490743|PMID:28492532|PMID:28497568|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362|PMID:9536098 12146317 KIAA0586 KIAA0586 gene DOID:1148 polydactyly ISO RGD:1323087 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15554946 12146317 KIAA0586 KIAA0586 gene DOID:630 genetic disease ISO RGD:1323087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25954003|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:27618451|PMID:28490743|PMID:28492532 12146317 KIAA0586 KIAA0586 gene DOID:8501 fundus dystrophy ISO RGD:1323087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20301500|PMID:24033266|PMID:25741868|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362 12146317 KIAA0586 KIAA0586 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:32581362 12146317 KIAA0586 KIAA0586 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1323087 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15554946 12146375 YLPM1 YLP motif containing 1 gene DOID:1059 intellectual disability ISO RGD:1351286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12146375 YLPM1 YLP motif containing 1 gene DOID:2661 myoepithelioma ISO RGD:1351286 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12146375 YLPM1 YLP motif containing 1 gene DOID:630 genetic disease ISO RGD:1351286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146410 RFX5 regulatory factor X5 gene DOID:0080422 Dravet syndrome ISO RGD:1323259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 12146410 RFX5 regulatory factor X5 gene DOID:0111940 immunodeficiency 42 ISO RGD:1323259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12146410 RFX5 regulatory factor X5 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1323259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12146410 RFX5 regulatory factor X5 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1323259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12146410 RFX5 regulatory factor X5 gene DOID:1540 parathyroid carcinoma ISO RGD:1323259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12146410 RFX5 regulatory factor X5 gene DOID:5812 MHC class II deficiency ISO RGD:1323259 D RGD:7240710 20180207 OMIM 12146410 RFX5 regulatory factor X5 gene DOID:5812 MHC class II deficiency ISO RGD:1323259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency PMID:10079298|PMID:12368908|PMID:17576681|PMID:24033266|PMID:25741868|PMID:26193622|PMID:28492532|PMID:32888943|PMID:7744245|PMID:9401005|PMID:9536098 12146410 RFX5 regulatory factor X5 gene DOID:5812 MHC class II deficiency ISO RGD:1323259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency PMID:10079298|PMID:12368908|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:26193622|PMID:28492532|PMID:29527204|PMID:30084052|PMID:30170160|PMID:32888943|PMID:7744245|PMID:9401005|PMID:9536098 12146410 RFX5 regulatory factor X5 gene DOID:627 severe combined immunodeficiency ISO RGD:1323259 D RGD:9068941 20200609 RGD PMID:7744245|PMID:9401005|REF_RGD_ID:1599742|REF_RGD_ID:1599743 12146410 RFX5 regulatory factor X5 gene DOID:630 genetic disease ISO RGD:1323259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12146410 RFX5 regulatory factor X5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12146441 TAGAP T cell activation RhoGTPase activating protein gene DOID:0080600 COVID-19 ISO RGD:1318496 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12146441 TAGAP T cell activation RhoGTPase activating protein gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1318496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 12146441 TAGAP T cell activation RhoGTPase activating protein gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1318496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 12146441 TAGAP T cell activation RhoGTPase activating protein gene DOID:630 genetic disease ISO RGD:1318496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146441 TAGAP T cell activation RhoGTPase activating protein gene DOID:7148 rheumatoid arthritis ISO RGD:1318496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 12146441 TAGAP T cell activation RhoGTPase activating protein gene DOID:8778 Crohn's disease ISO RGD:1318496 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:21102463|PMID:36038634 12146441 TAGAP T cell activation RhoGTPase activating protein gene DOID:8893 psoriasis ISO RGD:1318496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143594 12146455 FRMD1 FERM domain containing 1 gene DOID:0111190 distal muscular dystrophy 4 ISO RGD:1352660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement PMID:25741868 12146455 FRMD1 FERM domain containing 1 gene DOID:630 genetic disease ISO RGD:1352660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146471 CLSTN3 calsyntenin 3 gene DOID:0060041 autism spectrum disorder ISO RGD:732033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12146471 CLSTN3 calsyntenin 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:732033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12146471 CLSTN3 calsyntenin 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:732033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12146471 CLSTN3 calsyntenin 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:732033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12146471 CLSTN3 calsyntenin 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:732033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12146471 CLSTN3 calsyntenin 3 gene DOID:0111621 Temtamy syndrome ISO RGD:732033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12146471 CLSTN3 calsyntenin 3 gene DOID:630 genetic disease ISO RGD:732033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146471 CLSTN3 calsyntenin 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:732033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12146496 SLC16A9 solute carrier family 16 member 9 gene DOID:630 genetic disease ISO RGD:1347871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146514 MMP27 matrix metallopeptidase 27 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1315373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 12146514 MMP27 matrix metallopeptidase 27 gene DOID:1059 intellectual disability ISO RGD:1315373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12146514 MMP27 matrix metallopeptidase 27 gene DOID:12704 ataxia telangiectasia ISO RGD:1315373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12146514 MMP27 matrix metallopeptidase 27 gene DOID:630 genetic disease ISO RGD:1315373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146528 UTP25 UTP25 small subunit processome component gene DOID:10487 Hirschsprung's disease ISO RGD:1604367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25007945 12146528 UTP25 UTP25 small subunit processome component gene DOID:1540 parathyroid carcinoma ISO RGD:1604367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12146528 UTP25 UTP25 small subunit processome component gene DOID:630 genetic disease ISO RGD:1604367 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146528 UTP25 UTP25 small subunit processome component gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12146542 C1QL1 complement C1q like 1 gene DOID:630 genetic disease ISO RGD:1314427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146548 MPP2 MAGUK p55 scaffold protein 2 gene DOID:630 genetic disease ISO RGD:1346408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146573 GOLT1A golgi transport 1A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1346868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12146573 GOLT1A golgi transport 1A gene DOID:12849 autistic disorder ISO RGD:1346868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12146573 GOLT1A golgi transport 1A gene DOID:1540 parathyroid carcinoma ISO RGD:1346868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12146573 GOLT1A golgi transport 1A gene DOID:630 genetic disease ISO RGD:1346868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146573 GOLT1A golgi transport 1A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1346868 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12146573 GOLT1A golgi transport 1A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12146581 SYT2 synaptotagmin 2 gene DOID:0110659 congenital myasthenic syndrome 7 ISO RGD:735278 D RGD:7240710 20190116 OMIM 12146581 SYT2 synaptotagmin 2 gene DOID:0110659 congenital myasthenic syndrome 7 ISO RGD:735278 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 7 PMID:25192047|PMID:25741868|PMID:26519543|PMID:28492532|PMID:28953919|PMID:30533528|PMID:31230720|PMID:32403337|PMID:33320396|PMID:34037996 12146581 SYT2 synaptotagmin 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:735278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12146581 SYT2 synaptotagmin 2 gene DOID:12377 spinal muscular atrophy ISO RGD:731270 D RGD:9068941 20211203 RGD protein:decreased expression:multiple (mouse) PMID:28173138|REF_RGD_ID:11535337 12146581 SYT2 synaptotagmin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:735278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12146581 SYT2 synaptotagmin 2 gene DOID:3635 congenital myasthenic syndrome ISO RGD:735278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12146581 SYT2 synaptotagmin 2 gene DOID:630 genetic disease ISO RGD:735278 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25192047|PMID:25741868|PMID:26519543|PMID:28492532|PMID:28953919 12146581 SYT2 synaptotagmin 2 gene DOID:7319 axonal neuropathy ISO RGD:735278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy PMID:25741868 12146581 SYT2 synaptotagmin 2 gene DOID:9001976 Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive ISO RGD:735278 D RGD:7240710 20211027 OMIM 12146581 SYT2 synaptotagmin 2 gene DOID:9001976 Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive ISO RGD:735278 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive PMID:25741868|PMID:28492532|PMID:32250532|PMID:32776697|PMID:33659639 12146581 SYT2 synaptotagmin 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:735278 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12146581 SYT2 synaptotagmin 2 gene DOID:9005532 Muscle Weakness ISO RGD:735278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness 12146581 SYT2 synaptotagmin 2 gene DOID:9006836 Contracture ISO RGD:735278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 12146581 SYT2 synaptotagmin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12146603 SBSPON somatomedin B and thrombospondin type 1 domain containing gene DOID:630 genetic disease ISO RGD:1602645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146603 SBSPON somatomedin B and thrombospondin type 1 domain containing gene DOID:9005369 Hepatomegaly ISO RGD:1602645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12146632 HRCT1 histidine rich carboxyl terminus 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:2301113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12146632 HRCT1 histidine rich carboxyl terminus 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:2301113 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12146632 HRCT1 histidine rich carboxyl terminus 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:2301113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12146632 HRCT1 histidine rich carboxyl terminus 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:2301113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12146632 HRCT1 histidine rich carboxyl terminus 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:2301113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12146632 HRCT1 histidine rich carboxyl terminus 1 gene DOID:630 genetic disease ISO RGD:2301113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146632 HRCT1 histidine rich carboxyl terminus 1 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:2301113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12146632 HRCT1 histidine rich carboxyl terminus 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:2301113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12146632 HRCT1 histidine rich carboxyl terminus 1 gene DOID:9870 galactosemia ISO RGD:2301113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12146638 LAX1 lymphocyte transmembrane adaptor 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606285 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12146638 LAX1 lymphocyte transmembrane adaptor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12146638 LAX1 lymphocyte transmembrane adaptor 1 gene DOID:630 genetic disease ISO RGD:1606285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146638 LAX1 lymphocyte transmembrane adaptor 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606285 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12146638 LAX1 lymphocyte transmembrane adaptor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12146647 TMEM213 transmembrane protein 213 gene DOID:0080690 RASopathy ISO RGD:2293900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12146647 TMEM213 transmembrane protein 213 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2293900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12146647 TMEM213 transmembrane protein 213 gene DOID:630 genetic disease ISO RGD:2293900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146647 TMEM213 transmembrane protein 213 gene DOID:9005808 Distal Renal Tubular Acidosis 3, Autosomal Recessive ISO RGD:2293900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing 12146654 MISFA mitochondrial sheath formation associated gene DOID:630 genetic disease ISO RGD:6766625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146665 SPMIP8 sperm microtubule inner protein 8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602955 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12146665 SPMIP8 sperm microtubule inner protein 8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602955 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12146665 SPMIP8 sperm microtubule inner protein 8 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12146665 SPMIP8 sperm microtubule inner protein 8 gene DOID:630 genetic disease ISO RGD:1602955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146695 PPP1R14D protein phosphatase 1 regulatory inhibitor subunit 14D gene DOID:2717 Bloom syndrome ISO RGD:1350290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12146695 PPP1R14D protein phosphatase 1 regulatory inhibitor subunit 14D gene DOID:630 genetic disease ISO RGD:1350290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146695 PPP1R14D protein phosphatase 1 regulatory inhibitor subunit 14D gene DOID:9256 colorectal cancer ISO RGD:1350290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12146706 LOC100856086 tigger transposable element-derived protein 1-like gene DOID:0060476 Perlman syndrome ISO RGD:1344912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12146706 LOC100856086 tigger transposable element-derived protein 1-like gene DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B ISO RGD:1344912 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome PMID:16826520|PMID:25741868|PMID:28492532|PMID:31354645 12146706 LOC100856086 tigger transposable element-derived protein 1-like gene DOID:0110991 Joubert syndrome 22 ISO RGD:1344912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12146706 LOC100856086 tigger transposable element-derived protein 1-like gene DOID:630 genetic disease ISO RGD:1344912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12146706 LOC100856086 tigger transposable element-derived protein 1-like gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:1344912 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:25741868|PMID:28492532 12146712 IGFN1 immunoglobulin like and fibronectin type III domain containing 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12146712 IGFN1 immunoglobulin like and fibronectin type III domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12146712 IGFN1 immunoglobulin like and fibronectin type III domain containing 1 gene DOID:630 genetic disease ISO RGD:1606752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146712 IGFN1 immunoglobulin like and fibronectin type III domain containing 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606752 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12146712 IGFN1 immunoglobulin like and fibronectin type III domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12146741 MIR302D microRNA mir-302d gene DOID:12271 aniridia ISO RGD:1352286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 12146741 MIR302D microRNA mir-302d gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1352286 D RGD:9068941 20220714 RGD Human cells in mouse model PMID:28352351|REF_RGD_ID:152998975 12146741 MIR302D microRNA mir-302d gene DOID:9004307 Alazami Syndrome ISO RGD:1352286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alazami syndrome PMID:25741868 12146741 MIR302D microRNA mir-302d gene DOID:9005172 Lung Neoplasms ISO RGD:1352286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12146741 MIR302D microRNA mir-302d gene DOID:9007787 Carcinoid Tumor ISO RGD:1352286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12146744 MIR222 microRNA mir-222 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1352986 D RGD:9068941 20220421 RGD PMID:31841247|REF_RGD_ID:151708741 12146744 MIR222 microRNA mir-222 gene DOID:0050866 oral squamous cell carcinoma exacerbates ISO RGD:1352986 D RGD:9068941 20220421 RGD PMID:21226887|REF_RGD_ID:151708999 12146744 MIR222 microRNA mir-222 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12146744 MIR222 microRNA mir-222 gene DOID:0080375 gastroesophageal adenocarcinoma disease_progression ISO RGD:1352986 D RGD:9068941 20220421 RGD PMID:25429911|REF_RGD_ID:151893460 12146744 MIR222 microRNA mir-222 gene DOID:0080547 non-alcoholic steatohepatitis disease_progression ISO RGD:1352986 D RGD:9068941 20220421 RGD PMID:22267590|REF_RGD_ID:151709001 12146744 MIR222 microRNA mir-222 gene DOID:10534 stomach cancer ISO RGD:1352986 D RGD:9068941 20220421 RGD RNA:increased expression:plasma PMID:30880765|REF_RGD_ID:151709006 12146744 MIR222 microRNA mir-222 gene DOID:10534 stomach cancer ISO RGD:1352986 D RGD:9068941 20220421 RGD RNA:increased expression:stomach PMID:27994199|REF_RGD_ID:151709002 12146744 MIR222 microRNA mir-222 gene DOID:11446 sciatic neuropathy ISO RGD:2325544 D RGD:9068941 20220421 RGD RNA:increased expression:dorsal root ganglion neuron PMID:25484256|REF_RGD_ID:151893491 12146744 MIR222 microRNA mir-222 gene DOID:11446 sciatic neuropathy ISO RGD:2325544 D RGD:9068941 20220428 RGD RNA:increased expression:sciatic nerve: PMID:22393241|REF_RGD_ID:11041067 12146744 MIR222 microRNA mir-222 gene DOID:11612 polycystic ovary syndrome ISO RGD:1352986 D RGD:9068941 20220421 RGD RNA:increased expression:blood PMID:33230470|REF_RGD_ID:151893462 12146744 MIR222 microRNA mir-222 gene DOID:11612 polycystic ovary syndrome treatment ISO RGD:2325544 D RGD:9068941 20220421 RGD PMID:33230470|REF_RGD_ID:151893462 12146744 MIR222 microRNA mir-222 gene DOID:12849 autistic disorder ISO RGD:1352986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12146744 MIR222 microRNA mir-222 gene DOID:12858 Huntington's disease ISO RGD:1608223 D RGD:9068941 20200609 RGD down-regulated PMID:21035445|REF_RGD_ID:11041745 12146744 MIR222 microRNA mir-222 gene DOID:1324 lung cancer ameliorates ISO RGD:1352986 D RGD:9068941 20220421 RGD PMID:26909602|REF_RGD_ID:151708998 12146744 MIR222 microRNA mir-222 gene DOID:1612 breast cancer ISO RGD:2325544 D RGD:9068941 20220428 RGD RNA:increased expression:breast PMID:32157513|REF_RGD_ID:152025189 12146744 MIR222 microRNA mir-222 gene DOID:3905 lung carcinoma treatment ISO RGD:1608223 D RGD:9068941 20220421 RGD PMID:27566197|REF_RGD_ID:151893461 12146744 MIR222 microRNA mir-222 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1352986 D RGD:9068941 20220421 RGD PMID:24955421|PMID:30233216|REF_RGD_ID:151708732|REF_RGD_ID:151708743 12146744 MIR222 microRNA mir-222 gene DOID:3963 thyroid gland carcinoma ISO RGD:1352986 D RGD:9068941 20220428 RGD RNA:increased expression:thyroid gland PMID:16728577|REF_RGD_ID:152023739 12146744 MIR222 microRNA mir-222 gene DOID:4043 skeletal muscle cancer ISO RGD:2325544 D RGD:9068941 20220421 RGD RNA:increased expression: triceps surae muscle PMID:23447020|REF_RGD_ID:151893488 12146744 MIR222 microRNA mir-222 gene DOID:5082 liver cirrhosis ISO RGD:1608223 D RGD:9068941 20220421 RGD RNA:increased expression:liver PMID:22267590|REF_RGD_ID:151709001 12146744 MIR222 microRNA mir-222 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 12146744 MIR222 microRNA mir-222 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352986 D RGD:9068941 20220421 RGD PMID:24124720|REF_RGD_ID:151709003 12146744 MIR222 microRNA mir-222 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1352986 D RGD:9068941 20220421 RGD PMID:20103675|REF_RGD_ID:151709004 12146744 MIR222 microRNA mir-222 gene DOID:8440 ileus treatment ISO RGD:2325544 D RGD:9068941 20220421 RGD PMID:30852906|REF_RGD_ID:151893492 12146744 MIR222 microRNA mir-222 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:1352986 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34862716 12146744 MIR222 microRNA mir-222 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 12146744 MIR222 microRNA mir-222 gene DOID:9001581 Constipation ISO RGD:2325544 D RGD:9068941 20220505 RGD RNA:increased expression:colon PMID:33792838|REF_RGD_ID:152025536 12146744 MIR222 microRNA mir-222 gene DOID:9003139 Cardiac Fibrosis ISO RGD:1608223 D RGD:9068941 20220421 RGD PMID:27614440|REF_RGD_ID:151893489 12146744 MIR222 microRNA mir-222 gene DOID:9003139 Cardiac Fibrosis severity ISO RGD:1352986 D RGD:9068941 20220428 RGD associated with dilated cardiomyopathy; PMID:29255073|REF_RGD_ID:18337269 12146744 MIR222 microRNA mir-222 gene DOID:9003370 Dyslipidemias ISO RGD:1352986 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34862716 12146744 MIR222 microRNA mir-222 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12146744 MIR222 microRNA mir-222 gene DOID:9004763 Trauma and Stressor Related Disorders disease_progression ISO RGD:2325544 D RGD:9068941 20220428 RGD PMID:22078298|REF_RGD_ID:152023731 12146744 MIR222 microRNA mir-222 gene DOID:9005172 Lung Neoplasms ISO RGD:1352986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12146744 MIR222 microRNA mir-222 gene DOID:9005873 Tongue Neoplasms ISO RGD:1352986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 12146744 MIR222 microRNA mir-222 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12146744 MIR222 microRNA mir-222 gene DOID:9007692 Insulin Resistance ISO RGD:1352986 D RGD:9068941 20220421 RGD associated with polycystic ovary syndrome; RNA:increased expression:blood PMID:33230470|REF_RGD_ID:151893462 12146744 MIR222 microRNA mir-222 gene DOID:9007787 Carcinoid Tumor ISO RGD:1352986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12146744 MIR222 microRNA mir-222 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:1608223 D RGD:9068941 20220428 RGD PMID:25863248|REF_RGD_ID:152025190 12146744 MIR222 microRNA mir-222 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1352986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 12146744 MIR222 microRNA mir-222 gene DOID:9008114 Helicobacter Infections ISO RGD:1352986 D RGD:9068941 20220421 RGD associated with stomach cancer;RNA:increased expression:stomach: PMID:29227536|REF_RGD_ID:151708731 12146744 MIR222 microRNA mir-222 gene DOID:9008763 Femoral Fractures ameliorates ISO RGD:2325544 D RGD:9068941 20220421 RGD PMID:27545451|REF_RGD_ID:151893485 12146744 MIR222 microRNA mir-222 gene DOID:9008763 Femoral Fractures disease_progression ISO RGD:2325544 D RGD:9068941 20220421 RGD PMID:31691506|REF_RGD_ID:151893486 12146744 MIR222 microRNA mir-222 gene DOID:9008939 Breast Neoplasms ISO RGD:1352986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 12146744 MIR222 microRNA mir-222 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731382 D RGD:9068941 20220421 RGD PMID:21132270|REF_RGD_ID:151709005 12146744 MIR222 microRNA mir-222 gene DOID:9253 gastrointestinal stromal tumor disease_progression ISO RGD:1352986 D RGD:9068941 20220421 RGD DNA:SNP: :rs75246947 (human) PMID:30983504|REF_RGD_ID:151709007 12146744 MIR222 microRNA mir-222 gene DOID:9256 colorectal cancer ISO RGD:1352986 D RGD:9068941 20220421 RGD RNA:increased expression:colorectum PMID:24931456|REF_RGD_ID:151708745 12146744 MIR222 microRNA mir-222 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1352986 D RGD:9068941 20220421 RGD PMID:31400607|REF_RGD_ID:151708742 12146744 MIR222 microRNA mir-222 gene DOID:9261 nasopharynx carcinoma ISO RGD:1352986 D RGD:9068941 20220421 RGD RNA:increased expression:nasopharynx PMID:29115464|REF_RGD_ID:151708744 12146744 MIR222 microRNA mir-222 gene DOID:9351 diabetes mellitus ISO RGD:2325544 D RGD:9068941 20220429 RGD RNA:increased expression:mandible PMID:32194220|REF_RGD_ID:152025220 12146744 MIR222 microRNA mir-222 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478399|PMID:28545106 12146744 MIR222 microRNA mir-222 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2325544 D RGD:9068941 20220421 RGD associated with Femoral Fractures;RNA:increased expression:femur PMID:31691506|REF_RGD_ID:151893486 12146794 ZAN zonadhesin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12146794 ZAN zonadhesin gene DOID:630 genetic disease ISO RGD:1312837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12146852 TTN titin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Right ventricular cardiomyopathy PMID:17576681|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25016126|PMID:25448463|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:28492532|PMID:28750076|PMID:28771489|PMID:28857138|PMID:30564623|PMID:9536098 12146852 TTN titin gene DOID:0050451 Brugada syndrome ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:17344846|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27588451|PMID:27854218|PMID:28492532|PMID:29099038|PMID:30985088|PMID:31481236|PMID:31795264 12146852 TTN titin gene DOID:0050557 congenital muscular dystrophy ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:25741868 12146852 TTN titin gene DOID:0050638 transthyretin amyloidosis ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis | ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12146852 TTN titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31539150|PMID:31795264|PMID:31983221|PMID:32039858|PMID:32246154|PMID:32746448|PMID:32778822|PMID:32964742|PMID:32969603|PMID:33449170|PMID:34137518|PMID:34782754|PMID:9536098 12146852 TTN titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31660661|PMID:31691645|PMID:31795264|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32746448|PMID:32778822|PMID:32964742|PMID:32969603|PMID:33449170|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:9536098 12146852 TTN titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31660661|PMID:31691645|PMID:31737537|PMID:31795264|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32746448|PMID:32778822|PMID:32964742|PMID:32969603|PMID:33449170|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:9536098 12146852 TTN titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31660661|PMID:31691645|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32746448|PMID:32778822|PMID:32964742|PMID:32969603|PMID:33106378|PMID:33449170|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:9536098 12146852 TTN titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33449170|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:9536098 12146852 TTN titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33449170|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:35207729|PMID:9536098 12146852 TTN titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30467950|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33297573|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:35177841|PMID:35207729|PMID:9536098 12146852 TTN titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30467950|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33297573|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:35177841|PMID:35207729|PMID:9536098 12146852 TTN titin gene DOID:0050823 third-degree atrioventricular block ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Third degree atrioventricular block PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532|PMID:31251381|PMID:31470098|PMID:31983221|PMID:34135346 12146852 TTN titin gene DOID:0060224 atrial fibrillation ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:17344846|PMID:20890277|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24459294|PMID:24503780|PMID:25626705|PMID:25741868|PMID:25979592|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26597493|PMID:26773040|PMID:27066551|PMID:28492532 12146852 TTN titin gene DOID:0060480 left ventricular noncompaction ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:25741868|PMID:28492532 12146852 TTN titin gene DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy PMID:25741868 12146852 TTN titin gene DOID:0080000 muscular disease ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:18948003|PMID:22335739|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24395473|PMID:25214167|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26516846|PMID:26701604|PMID:27796757|PMID:28166282|PMID:28255936|PMID:28295036|PMID:28492532|PMID:28771489|PMID:29435569|PMID:30615648|PMID:31028938 12146852 TTN titin gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1605120 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:25741868 12146852 TTN titin gene DOID:0080100 congenital myopathy ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital myopathy PMID:17344846|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26516846|PMID:27854218|PMID:28492532|PMID:29099038|PMID:31481236 12146852 TTN titin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1605120 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11846417|PMID:18414213|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:28492532|PMID:28606400|PMID:28750076|PMID:30724488|PMID:32039858 12146852 TTN titin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11846417|PMID:18414213|PMID:18948003|PMID:23396983|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24395473|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:28492532|PMID:28606400|PMID:28750076|PMID:30724488|PMID:32039858 12146852 TTN titin gene DOID:0080991 multiminicore disease ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Multiminicore myopathy PMID:25741868 12146852 TTN titin gene DOID:0090048 dystonia 16 ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 16 PMID:28492532 12146852 TTN titin gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 12146852 TTN titin gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1605120 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26567375|PMID:26676851|PMID:28492532|PMID:29253866 12146852 TTN titin gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1605120 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:17576681|PMID:22335739|PMID:22526018|PMID:23396983|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25589632|PMID:25741868|PMID:26467025|PMID:27066507|PMID:28492532|PMID:28822653|PMID:31983221|PMID:9536098 12146852 TTN titin gene DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Calpainopathy PMID:25741868|PMID:27321809|PMID:27854218|PMID:28492532 12146852 TTN titin gene DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J ISO RGD:1605120 D RGD:7240710 20180130 OMIM 12146852 TTN titin gene DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:33333461|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33673806|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34011823|PMID:34088380|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:34667957|PMID:34782754|PMID:34918981|PMID:35177841|PMID:35207729|PMID:9536098|PMID:9804419 12146852 TTN titin gene DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16199547|PMID:16733766|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21572417|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23518707|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23910462|PMID:23975875|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25798586|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:25987458|PMID:26084686|PMID:26187847|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26392295|PMID:26395554|PMID:26406308|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27353043|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28135719|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28714951|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28851873|PMID:28857138|PMID:29029073|PMID:29093449|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29253866|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29540472|PMID:29544605|PMID:29590070|PMID:29650543|PMID:29691892|PMID:29750433|PMID:29773157|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30165862|PMID:30238059|PMID:30333491|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30429050|PMID:30453078|PMID:30471092|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30662450|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30821013|PMID:30827497|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31216868|PMID:31218166|PMID:31230720|PMID:31251381|PMID:31317183|PMID:31395899|PMID:31407473|PMID:31481236|PMID:31486067|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31618753|PMID:31638414|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31737537|PMID:31785789|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31931689|PMID:31953240|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32041989|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32597815|PMID:32659924|PMID:32746448|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:32969603|PMID:32998006|PMID:33060286|PMID:33106378|PMID:33190517|PMID:33226272|PMID:33297573 12146852 TTN titin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:28492532|PMID:28606400|PMID:28750076|PMID:30724488|PMID:32039858 12146852 TTN titin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1605120 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:28492532|PMID:28606400|PMID:28750076|PMID:30724488|PMID:32039858|PMID:32880476 12146852 TTN titin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:18948003|PMID:23396983|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24395473|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:28492532|PMID:28606400|PMID:28750076|PMID:30724488|PMID:32039858|PMID:32880476 12146852 TTN titin gene DOID:0110315 hypertrophic cardiomyopathy 9 ISO RGD:1605120 D RGD:7240710 20180130 OMIM 12146852 TTN titin gene DOID:0110315 hypertrophic cardiomyopathy 9 ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 9 PMID:10462489|PMID:11310621|PMID:16084088|PMID:17344846|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23514108|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24082139|PMID:24119082|PMID:24384345|PMID:24395473|PMID:24444549|PMID:24459294|PMID:24503780|PMID:24575448|PMID:24636144|PMID:24884718|PMID:24980681|PMID:25037085|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25448463|PMID:25500009|PMID:25589632|PMID:25741868|PMID:25825243|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26777568|PMID:27066551|PMID:27302369|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27854218|PMID:27854229|PMID:27930701|PMID:28045975|PMID:28166282|PMID:28295036|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29961767|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30453078|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30847666|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31514951|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33874732|PMID:33906374|PMID:34106991|PMID:34135346|PMID:34540771|PMID:9536098 12146852 TTN titin gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:17576681|PMID:21520333|PMID:22335739|PMID:23418287|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24119082|PMID:24503780|PMID:25448463|PMID:25589632|PMID:25741868|PMID:26701604|PMID:28492532|PMID:28798025|PMID:29691892|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:31514951|PMID:31660661|PMID:31691645|PMID:32160020|PMID:32277046|PMID:33012304|PMID:34782754|PMID:9536098 12146852 TTN titin gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:21520333|PMID:22335739|PMID:23418287|PMID:23975875|PMID:24033266|PMID:24119082|PMID:24503780|PMID:25448463|PMID:25589632|PMID:25741868|PMID:28492532|PMID:28798025|PMID:29691892|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:31514951|PMID:31660661|PMID:32160020|PMID:32277046|PMID:34782754 12146852 TTN titin gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1605120 D RGD:7240710 20180130 OMIM 12146852 TTN titin gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:10051295|PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11788824|PMID:11846417|PMID:12145747|PMID:12669942|PMID:12891679|PMID:15802564|PMID:16084088|PMID:16199547|PMID:16733766|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19763152|PMID:19911250|PMID:20301498|PMID:20307669|PMID:20890277|PMID:21520333|PMID:21572417|PMID:21617319|PMID:21681106|PMID:21810661|PMID:22335739|PMID:22406018|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23297410|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25326637|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25640679|PMID:25739468|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25798586|PMID:25825243|PMID:25877298|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26077850|PMID:26084686|PMID:26187847|PMID:26265630|PMID:26269091|PMID:26272908|PMID:26315439|PMID:26383259|PMID:26392295|PMID:26395554|PMID:26406308|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26581302|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27182706|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27353043|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27544385|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27625338|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27868403|PMID:27869827|PMID:27886618|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28087566|PMID:28135719|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28357410|PMID:28403181|PMID:28416588|PMID:28424332|PMID:28449774|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28714951|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28851873|PMID:28857138|PMID:28877744|PMID:28941705|PMID:29029073|PMID:29057560|PMID:29093449|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29253866|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29540472|PMID:29544605|PMID:29590070|PMID:29650543|PMID:29691892|PMID:29750433|PMID:29773157|PMID:29792937|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30012837|PMID:30021846|PMID:30025578|PMID:30061524|PMID:30086531|PMID:30109841|PMID:30165862|PMID:30238059|PMID:30269836|PMID:30333491|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30429050|PMID:30453078|PMID:30471092|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30557390|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30662450|PMID:30665247|PMID:30666435|PMID:30681174|PMID:30724488|PMID:30770808|PMID:30821013|PMID:30827497|PMID:30847666|PMID:30858397|PMID:30924900|PMID:30985088|PMID:30993396 12146852 TTN titin gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:31028938|PMID:31053406|PMID:31112426|PMID:31127727|PMID:31130284|PMID:31215789|PMID:31218166|PMID:31230720|PMID:31251381|PMID:31317183|PMID:31333075|PMID:31395899|PMID:31402444|PMID:31407473|PMID:31481236|PMID:31486067|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31589614|PMID:31618753|PMID:31638414|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31785789|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31931689|PMID:31953240|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32041989|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32597815|PMID:32659924|PMID:32746448|PMID:32778822|PMID:32815318|PMID:32846814|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:32969603|PMID:32998006|PMID:33012304|PMID:33019804|PMID:33049752|PMID:33060286|PMID:33106378|PMID:33146414|PMID:33190517|PMID:33226272|PMID:33297573|PMID:33333461|PMID:33373724|PMID:33432171|PMID:33449170|PMID:33481221|PMID:33500567|PMID:33552729|PMID:33673806|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34011823|PMID:34036930|PMID:34088380|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:34667957|PMID:34782754|PMID:35177841|PMID:35207729|PMID:9536098|PMID:9804419 12146852 TTN titin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL DILATED, 1 | ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:12145747|PMID:17444505|PMID:18948003|PMID:21520333|PMID:22335739|PMID:23975875|PMID:24033266|PMID:24119082|PMID:24395473|PMID:24503780|PMID:25214167|PMID:25448463|PMID:25589632|PMID:25741868|PMID:26735901|PMID:27532257|PMID:27813223|PMID:27886618|PMID:28045975|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28798025|PMID:29447731|PMID:29540472|PMID:30109841|PMID:30535219|PMID:31112426|PMID:31514951|PMID:32039858|PMID:32659924|PMID:32778822|PMID:32815318|PMID:32880476|PMID:33432171|PMID:33500567|PMID:33874732 12146852 TTN titin gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:23396983|PMID:23861362|PMID:23975875|PMID:24033266|PMID:25589632|PMID:25741868|PMID:26467025|PMID:28045975|PMID:28135719|PMID:28492532|PMID:29253866 12146852 TTN titin gene DOID:0110957 Gaucher's disease type I ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gaucher disease, noncerebral juvenile PMID:25741868 12146852 TTN titin gene DOID:0111078 tibial muscular dystrophy ISO RGD:1605120 D RGD:7240710 20180718 OMIM 12146852 TTN titin gene DOID:0111078 tibial muscular dystrophy ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy | ClinVar Annotator: match by term: UDD Myopathy | ClinVar Annotator: match by term: Udd Distal Myopathy PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:12891679|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20301498|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23518707|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25739468|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25877298|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:9536098 12146852 TTN titin gene DOID:0111188 myofibrillar myopathy 9 ISO RGD:1605120 D RGD:7240710 20190703 OMIM 12146852 TTN titin gene DOID:0111188 myofibrillar myopathy 9 ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27400856|PMID:27418678|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28403181|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29179779|PMID:29221435|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29997562|PMID:30086531|PMID:30365001|PMID:30535219|PMID:30609410|PMID:30615648|PMID:30666435|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31539150|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31983221|PMID:32246154|PMID:32746448|PMID:32934002|PMID:33297573|PMID:33449170|PMID:34137518|PMID:9536098 12146852 TTN titin gene DOID:0111188 myofibrillar myopathy 9 ISO RGD:1605120 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34540771|PMID:35207729|PMID:9536098 12146852 TTN titin gene DOID:0111188 myofibrillar myopathy 9 ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:9536098 12146852 TTN titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26773040|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27400856|PMID:27418678|PMID:27585509|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28822653|PMID:28831623|PMID:29099038|PMID:29179779|PMID:29221435|PMID:29361395|PMID:29540445|PMID:29590070|PMID:29970176|PMID:30535219|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30993396|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31539150|PMID:32246154|PMID:32746448|PMID:33449170|PMID:34137518 12146852 TTN titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26773040|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27400856|PMID:27418678|PMID:27585509|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28822653|PMID:28831623|PMID:29099038|PMID:29179779|PMID:29221435|PMID:29361395|PMID:29540445|PMID:29590070|PMID:29961767|PMID:29970176|PMID:30531895|PMID:30535219|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30993396|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31539150|PMID:32246154|PMID:32746448|PMID:33449170|PMID:33692775|PMID:34137518 12146852 TTN titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30086531|PMID:30238059|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30564623|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31539150|PMID:31589614|PMID:31795264|PMID:31847883|PMID:31983221|PMID:32039858|PMID:32235935|PMID:32246154|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32964742|PMID:33449170|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34106991|PMID:34137518|PMID:34540771|PMID:35207729|PMID:9536098 12146852 TTN titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:33432171|PMID:33449170|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34540771|PMID:35207729|PMID:9536098 12146852 TTN titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:9536098 12146852 TTN titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21270786|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25974703|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:9536098 12146852 TTN titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:9536098 12146852 TTN titin gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Muscular Dystrophies, Limb-Girdle PMID:18948003|PMID:23396983|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24395473|PMID:24892279|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26516846|PMID:27796757|PMID:28295036|PMID:28492532|PMID:29435569|PMID:32246154|PMID:32528171|PMID:32778822|PMID:34106991|PMID:34540771 12146852 TTN titin gene DOID:11836 clubfoot ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral talipes equinovarus PMID:23861362|PMID:25741868 12146852 TTN titin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17344846|PMID:17576681|PMID:18414213|PMID:23396983|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24271327|PMID:24440382|PMID:24476948|PMID:24503780|PMID:25163546|PMID:25447171|PMID:25589632|PMID:25741868|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26676851|PMID:26718681|PMID:27066507|PMID:27930701|PMID:28045975|PMID:28492532|PMID:28600387|PMID:28750076|PMID:28822653|PMID:28831623|PMID:29988065|PMID:30847666|PMID:30993396|PMID:31489791|PMID:31983221|PMID:33106378|PMID:33552729|PMID:33692775|PMID:34137518|PMID:9536098 12146852 TTN titin gene DOID:12930 dilated cardiomyopathy ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24395473|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25448463|PMID:25589632|PMID:25741868|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28256728|PMID:28416588|PMID:28492532|PMID:28716623|PMID:28771489|PMID:28822653|PMID:28877744|PMID:28941705|PMID:29029073|PMID:29093449|PMID:29361395|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:30012837|PMID:30371277|PMID:30535219|PMID:30536954|PMID:30615648|PMID:30681174|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31727422|PMID:31983221|PMID:32039858|PMID:32233023|PMID:32235935|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32964742|PMID:33106378|PMID:9536098 12146852 TTN titin gene DOID:12930 dilated cardiomyopathy ISO RGD:1605120 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24395473|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25448463|PMID:25589632|PMID:25741868|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28256728|PMID:28416588|PMID:28492532|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28877744|PMID:28941705|PMID:29029073|PMID:29093449|PMID:29361395|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:30012837|PMID:30371277|PMID:30535219|PMID:30536954|PMID:30609409|PMID:30615648|PMID:30681174|PMID:31112426|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32964742|PMID:33106378|PMID:33874732|PMID:34495297|PMID:34540771|PMID:9536098 12146852 TTN titin gene DOID:12930 dilated cardiomyopathy ISO RGD:1605120 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25987458|PMID:26272908|PMID:26315439|PMID:26467025|PMID:26516846|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27813223|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28941705|PMID:29361395|PMID:29435569|PMID:29447731|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:30012837|PMID:30333491|PMID:30371277|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:31112426|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32528171|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32815318|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33432171|PMID:33874732|PMID:34495297|PMID:34540771|PMID:34667957|PMID:34782754|PMID:9536098 12146852 TTN titin gene DOID:12930 dilated cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25326637|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25987458|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28877744|PMID:28941705|PMID:29093449|PMID:29361395|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:29988065|PMID:30012837|PMID:30333491|PMID:30371277|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:31112426|PMID:31127727|PMID:31251381|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32528171|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33874732|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34667957|PMID:34782754|PMID:35177841|PMID:9536098 12146852 TTN titin gene DOID:14717 centronuclear myopathy ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Centronuclear myopathy PMID:22335739|PMID:23975875|PMID:24033266|PMID:25589632|PMID:25741868|PMID:26701604|PMID:28492532|PMID:30609409 12146852 TTN titin gene DOID:1926 Gaucher's disease ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acid beta-glucosidase deficiency PMID:25741868 12146852 TTN titin gene DOID:1969 cerebral palsy ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12146852 TTN titin gene DOID:2843 long QT syndrome ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:17344846|PMID:23861362|PMID:24033266|PMID:25145518|PMID:25741868|PMID:26467025|PMID:26567375|PMID:27930701|PMID:28492532|PMID:29253866 12146852 TTN titin gene DOID:2843 long QT syndrome ISO RGD:1605120 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:17344846|PMID:23861362|PMID:24033266|PMID:25145518|PMID:25741868|PMID:26467025|PMID:26567375|PMID:27854218|PMID:27930701|PMID:28492532|PMID:29253866 12146852 TTN titin gene DOID:3393 coronary artery disease ISO RGD:1605120 D RGD:9068941 20200609 RGD PMID:12221049|REF_RGD_ID:1580780 12146852 TTN titin gene DOID:3529 central core disease ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Shy-Magee syndrome PMID:24033266|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532 12146852 TTN titin gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532|PMID:31983221|PMID:32233023 12146852 TTN titin gene DOID:397 restrictive cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:17576681|PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572|PMID:9536098 12146852 TTN titin gene DOID:422 congenital structural myopathy ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myotubular myopathy PMID:22335739|PMID:23975875|PMID:24033266|PMID:25589632|PMID:26701604|PMID:28492532|PMID:30609409 12146852 TTN titin gene DOID:423 myopathy ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy PMID:18948003|PMID:22335739|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24395473|PMID:25214167|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26516846|PMID:26701604|PMID:27796757|PMID:28166282|PMID:28255936|PMID:28295036|PMID:28492532|PMID:28771489|PMID:29435569|PMID:30615648|PMID:31028938 12146852 TTN titin gene DOID:440 neuromuscular disease ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:22335739|PMID:23975875|PMID:24033266|PMID:25589632|PMID:26701604|PMID:28492532|PMID:29691892|PMID:31053406 12146852 TTN titin gene DOID:5844 myocardial infarction ISO RGD:621114 D RGD:9068941 20200609 RGD PMID:12221049|REF_RGD_ID:1580780 12146852 TTN titin gene DOID:6000 congestive heart failure ISO RGD:1605120 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congestive heart failure | ClinVar Annotator: match by term: Heart failure PMID:15802564|PMID:17344846|PMID:23396983|PMID:23486992|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24231549|PMID:24271327|PMID:24503780|PMID:24569025|PMID:24578547|PMID:25589632|PMID:25741868|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27194543|PMID:27843123|PMID:28256728|PMID:28492532|PMID:28771489|PMID:29361395 12146852 TTN titin gene DOID:630 genetic disease ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10462489|PMID:11717165|PMID:12145747|PMID:12669942|PMID:17444505|PMID:1745277|PMID:18948003|PMID:21617319|PMID:21810661|PMID:22335739|PMID:23396983|PMID:23418287|PMID:23518707|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24105469|PMID:24395473|PMID:24503780|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26581302|PMID:26701604|PMID:27532257|PMID:27588451|PMID:27869827|PMID:27930701|PMID:28492532|PMID:29540472|PMID:30535219|PMID:30985088|PMID:31795264|PMID:32964742|PMID:33449170|PMID:33874732|PMID:34315225 12146852 TTN titin gene DOID:9000006 Supraventricular Tachycardia ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:17344846|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24271327|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:27930701|PMID:28492532|PMID:28600387|PMID:28606400 12146852 TTN titin gene DOID:9000184 Ventricular Fibrillation ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:23396983|PMID:23861362|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26467025|PMID:28492532 12146852 TTN titin gene DOID:9000299 cardiac amyloidosis ISO RGD:1605120 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:23861362|PMID:25741868|PMID:28492532 12146852 TTN titin gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:18948003|PMID:22335739|PMID:23975875|PMID:24033266|PMID:24395473|PMID:25589632|PMID:25741868|PMID:25987458|PMID:26467025|PMID:26735901|PMID:28295036|PMID:28492532|PMID:32528171|PMID:32659924|PMID:32778822|PMID:32880476|PMID:33449170|PMID:33874732|PMID:34106991|PMID:34540771 12146852 TTN titin gene DOID:9000727 Syncope ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syncope PMID:24033266|PMID:25741868 12146852 TTN titin gene DOID:9001276 Failure to Thrive ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12146852 TTN titin gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:1605120 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:23861362|PMID:25741868|PMID:28492532 12146852 TTN titin gene DOID:9001561 Pseudovaginal Perineoscrotal Hypospadias ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial incomplete male pseudohermaphroditism, type 2 PMID:25741868|PMID:28492532 12146852 TTN titin gene DOID:9002521 Left Ventricular Noncompaction 2 ISO RGD:1605120 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 2 PMID:22335739|PMID:23975875|PMID:25589632|PMID:25741868|PMID:26701604|PMID:28492532 12146852 TTN titin gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:17344846|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27588451|PMID:27854218|PMID:28492532|PMID:29099038|PMID:30985088|PMID:31481236|PMID:31795264 12146852 TTN titin gene DOID:9003163 Heart Block ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868 12146852 TTN titin gene DOID:9003631 Diastolic Dysfunction ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diastolic dysfunction 12146852 TTN titin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:25741868|PMID:26467025|PMID:28492532 12146852 TTN titin gene DOID:9005141 Ventricular Tachycardia ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:17344846|PMID:18414213|PMID:23396983|PMID:23675308|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25741868|PMID:26467025|PMID:26516846|PMID:26597493|PMID:27066551|PMID:28492532|PMID:28822653|PMID:29221435 12146852 TTN titin gene DOID:9005532 Muscle Weakness ISO RGD:1605120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17444505 12146852 TTN titin gene DOID:9005603 Muscle Hypotonia ISO RGD:1605120 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:23861362|PMID:24033266|PMID:24459294|PMID:25741868|PMID:26272908|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 12146852 TTN titin gene DOID:9006785 Congenital Myopathy 5 with Cardiomyopathy ISO RGD:1605120 D RGD:7240710 20180130 OMIM 12146852 TTN titin gene DOID:9006785 Congenital Myopathy 5 with Cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY | ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy | ClinVar Annotator: match by term: Salih Myopathy PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22238790|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23518707|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25741882|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28851873|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34135346|PMID:34137518|PMID:34540771|PMID:34782754|PMID:35207729|PMID:9536098|PMID:9804419 12146852 TTN titin gene DOID:9007 sudden infant death syndrome ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:17344846|PMID:22335739|PMID:23975875|PMID:24033266|PMID:25589632|PMID:25741868|PMID:26467025|PMID:28492532 12146852 TTN titin gene DOID:9007033 Ventricular Premature Complexes ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28831623 12146852 TTN titin gene DOID:9007102 Myocardial Ischemia ISO RGD:621114 D RGD:9068941 20200609 RGD PMID:12221049|REF_RGD_ID:1580780 12146852 TTN titin gene DOID:9007661 Dwarfism ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12146852 TTN titin gene DOID:9007925 Sudden Cardiac Death ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death PMID:19608031|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12146852 TTN titin gene DOID:9008952 Breast Cancer, Familial ISO RGD:1605120 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 12146852 TTN titin gene DOID:92 speech disorder ISO RGD:1605120 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Speech disorder PMID:23861362|PMID:24033266|PMID:24459294|PMID:25741868|PMID:26272908|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 12146852 TTN titin gene DOID:9651 systolic heart failure ISO RGD:1605120 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Systolic heart failure PMID:23861362|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26467025|PMID:26516846|PMID:28492532 12146852 TTN titin gene DOID:988 mitral valve prolapse ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitral valve prolapse PMID:22335739|PMID:23975875|PMID:25589632|PMID:28492532 12146852 TTN titin gene DOID:9884 muscular dystrophy ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:24033266|PMID:25589632|PMID:25741868|PMID:27493940|PMID:28492532|PMID:32778822 12147171 MAFB MAF bZIP transcription factor B gene DOID:0080600 COVID-19 ISO RGD:732545 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12147171 MAFB MAF bZIP transcription factor B gene DOID:0111534 multicentric carpotarsal osteolysis syndrome ISO RGD:732545 D RGD:7240710 20180130 OMIM 12147171 MAFB MAF bZIP transcription factor B gene DOID:0111534 multicentric carpotarsal osteolysis syndrome ISO RGD:732545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multicentric carpo-tarsal osteolysis with or without nephropathy PMID:20436469|PMID:22387013|PMID:24989131|PMID:25741868|PMID:28166811|PMID:28492532|PMID:30208859 12147171 MAFB MAF bZIP transcription factor B gene DOID:12557 Duane retraction syndrome ISO RGD:732545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12147171 MAFB MAF bZIP transcription factor B gene DOID:12557 Duane retraction syndrome ISO RGD:732546 D RGD:9068941 20220825 MouseDO OMIM:126800 | OMIM:604356 12147171 MAFB MAF bZIP transcription factor B gene DOID:2234 focal epilepsy ISO RGD:732545 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12147171 MAFB MAF bZIP transcription factor B gene DOID:630 genetic disease ISO RGD:732545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22387013|PMID:24989131|PMID:25741868|PMID:28492532 12147171 MAFB MAF bZIP transcription factor B gene DOID:9004102 Duane Retraction Syndrome 1 ISO RGD:732545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duane syndrome type 1 PMID:27181683 12147171 MAFB MAF bZIP transcription factor B gene DOID:9005360 Duane Retraction Syndrome 3 ISO RGD:732545 D RGD:7240710 20200304 OMIM 12147171 MAFB MAF bZIP transcription factor B gene DOID:9005360 Duane Retraction Syndrome 3 ISO RGD:732545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duane retraction syndrome 3 with or without deafness PMID:27181683 12147171 MAFB MAF bZIP transcription factor B gene DOID:9296 cleft lip ISO RGD:732545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20436469 12147175 IRX3 iroquois homeobox 3 gene DOID:0050777 Joubert syndrome ISO RGD:1316613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:17558409|PMID:28492532 12147175 IRX3 iroquois homeobox 3 gene DOID:630 genetic disease ISO RGD:1316613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12147175 IRX3 iroquois homeobox 3 gene DOID:850 lung disease ISO RGD:1316613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21238641 12147212 EDA ectodysplasin A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12147212 EDA ectodysplasin A gene DOID:0111664 ectodermal dysplasia 1 ISO RGD:1348155 D RGD:7240710 20180130 OMIM 12147212 EDA ectodysplasin A gene DOID:0111664 ectodermal dysplasia 1 ISO RGD:1348155 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia PMID:10469321|PMID:10951256|PMID:11279189|PMID:11295832|PMID:11309369|PMID:11378824|PMID:11416205|PMID:12930312|PMID:12949972|PMID:14656435|PMID:15461765|PMID:15663448|PMID:16199547|PMID:17066260|PMID:17576681|PMID:17970812|PMID:18076698|PMID:18231121|PMID:18384562|PMID:18386312|PMID:18386315|PMID:18427821|PMID:18451855|PMID:18510547|PMID:18545687|PMID:18657636|PMID:18666859|PMID:18688569|PMID:18821982|PMID:19278982|PMID:19438931|PMID:19504606|PMID:19533796|PMID:19592680|PMID:19623212|PMID:19921643|PMID:19960895|PMID:20077893|PMID:20236127|PMID:20374512|PMID:20486090|PMID:20979233|PMID:21357618|PMID:21457804|PMID:22032522|PMID:22382802|PMID:22428923|PMID:22633615|PMID:22875504|PMID:23293949|PMID:23553579|PMID:23687000|PMID:23744313|PMID:23926003|PMID:23989902|PMID:23991204|PMID:24033266|PMID:24279917|PMID:24312213|PMID:24330993|PMID:24487376|PMID:24631698|PMID:24648697|PMID:24689965|PMID:24715423|PMID:24724966|PMID:25333067|PMID:25626993|PMID:25640679|PMID:25741868|PMID:25846883|PMID:26273176|PMID:26345974|PMID:26502894|PMID:26634545|PMID:26753551|PMID:27054699|PMID:27144394|PMID:27264909|PMID:27305980|PMID:27538153|PMID:27657131|PMID:28045201|PMID:28492532|PMID:29444360|PMID:29676859|PMID:30088137|PMID:30117778|PMID:31306530|PMID:31489414|PMID:31652981|PMID:31796081|PMID:31852928|PMID:31924237|PMID:33502802|PMID:8696334|PMID:9507389|PMID:9536098|PMID:9630076|PMID:9683615|PMID:9736768|PMID:9856856 12147212 EDA ectodysplasin A gene DOID:10754 otitis media ISO RGD:1557590 D RGD:9068941 20200609 RGD PMID:31028034|REF_RGD_ID:14398763 12147212 EDA ectodysplasin A gene DOID:12849 autistic disorder ISO RGD:1348155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12147212 EDA ectodysplasin A gene DOID:13714 anodontia ISO RGD:1348155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Partial congenital absence of teeth PMID:19278982|PMID:19623212|PMID:24033266|PMID:24487376|PMID:25741868|PMID:26753551|PMID:27144394|PMID:28492532 12147212 EDA ectodysplasin A gene DOID:14693 Clouston syndrome IAGP D RGD:12801476 20220629 OMIA Anhidrotic ectodermal dysplasia, EDA-related PMID:9419891|PMID:4055508|PMID:3710892|PMID:6746381|PMID:5462764|PMID:579352|PMID:15500478|PMID:15946744|PMID:16151697|PMID:17924345|PMID:20078794|PMID:21730053|PMID:19533784|PMID:23441037|PMID:27449516|PMID:30276836|PMID:30397018|PMID:31122682|PMID:32482291|PMID:34076266 12147212 EDA ectodysplasin A gene DOID:14737 craniofrontonasal syndrome ISO RGD:1348155 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17941886 12147212 EDA ectodysplasin A gene DOID:14793 hypohidrotic ectodermal dysplasia ISO RGD:1348155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia PMID:10951256|PMID:11279189|PMID:11295832|PMID:11309369|PMID:11378824|PMID:11416205|PMID:12930312|PMID:12949972|PMID:14656435|PMID:15461765|PMID:15663448|PMID:16199547|PMID:17066260|PMID:17576681|PMID:17970812|PMID:18076698|PMID:18231121|PMID:18384562|PMID:18386312|PMID:18386315|PMID:18427821|PMID:18451855|PMID:18510547|PMID:18545687|PMID:18657636|PMID:18666859|PMID:18821982|PMID:19278982|PMID:19533796|PMID:19592680|PMID:19623212|PMID:19921643|PMID:20236127|PMID:20374512|PMID:20486090|PMID:20979233|PMID:21357618|PMID:21457804|PMID:22032522|PMID:22382802|PMID:22428923|PMID:22633615|PMID:22875504|PMID:23293949|PMID:23553579|PMID:23744313|PMID:23926003|PMID:23989902|PMID:23991204|PMID:24033266|PMID:24279917|PMID:24312213|PMID:24330993|PMID:24487376|PMID:24648697|PMID:24689965|PMID:24724966|PMID:25333067|PMID:25626993|PMID:25741868|PMID:26273176|PMID:26345974|PMID:26634545|PMID:26753551|PMID:27054699|PMID:27144394|PMID:27305980|PMID:27538153|PMID:27657131|PMID:28045201|PMID:28492532|PMID:29444360|PMID:30117778|PMID:31306530|PMID:31796081|PMID:31924237|PMID:8696334|PMID:9507389|PMID:9536098|PMID:9630076|PMID:9683615|PMID:9736768|PMID:9856856 12147212 EDA ectodysplasin A gene DOID:1909 melanoma ISO RGD:1348155 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12147212 EDA ectodysplasin A gene DOID:2121 ectodermal dysplasia ISO RGD:1348155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia PMID:19921643|PMID:21357618|PMID:25741868|PMID:28492532 12147212 EDA ectodysplasin A gene DOID:630 genetic disease ISO RGD:1348155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12947561|PMID:19623212|PMID:22032522|PMID:24033266|PMID:28492532 12147212 EDA ectodysplasin A gene DOID:9000986 Selective Tooth Agenesis, X-Linked, 1 ISO RGD:1348155 D RGD:7240710 20180130 OMIM 12147212 EDA ectodysplasin A gene DOID:9000986 Selective Tooth Agenesis, X-Linked, 1 ISO RGD:1348155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, X-linked, 1 PMID:16583127|PMID:17256800|PMID:18545687|PMID:18657636|PMID:19278982|PMID:19623212|PMID:24312213|PMID:25741868|PMID:26753551|PMID:27144394|PMID:27305980|PMID:27657131|PMID:28492532|PMID:8696334|PMID:9683615 12147234 DEFB119 defensin beta 119 gene DOID:229 female reproductive system disease ISO RGD:1615624 D RGD:9068941 20230202 MouseDO 12147234 DEFB119 defensin beta 119 gene DOID:630 genetic disease ISO RGD:1606419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12147238 MROH6 maestro heat like repeat family member 6 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1603139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12147238 MROH6 maestro heat like repeat family member 6 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1603139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12147238 MROH6 maestro heat like repeat family member 6 gene DOID:1059 intellectual disability ISO RGD:1603139 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability PMID:30787422 12147238 MROH6 maestro heat like repeat family member 6 gene DOID:4621 holoprosencephaly ISO RGD:1603139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12147238 MROH6 maestro heat like repeat family member 6 gene DOID:630 genetic disease ISO RGD:1603139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12147254 POLR1B RNA polymerase I subunit B gene DOID:0080792 Treacher Collins syndrome 4 ISO RGD:1348858 D RGD:7240710 20200722 OMIM 12147254 POLR1B RNA polymerase I subunit B gene DOID:0080792 Treacher Collins syndrome 4 ISO RGD:1348858 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Treacher Collins syndrome 4 PMID:25741868|PMID:31649276 12147254 POLR1B RNA polymerase I subunit B gene DOID:630 genetic disease ISO RGD:1348858 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12147281 LOC102156800 cyclin-I2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:2290194 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12147281 LOC102156800 cyclin-I2 gene DOID:630 genetic disease ISO RGD:2290194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12147281 LOC102156800 cyclin-I2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2290194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12147281 LOC102156800 cyclin-I2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2290194 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12147301 CAT catalase gene DOID:0002116 pterygium ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:conjunctiva PMID:18987486|REF_RGD_ID:9068921 12147301 CAT catalase gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26074427 12147301 CAT catalase gene DOID:0050700 cardiomyopathy ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11800590 12147301 CAT catalase gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 12147301 CAT catalase gene DOID:0050853 chronic venous insufficiency ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:plasma: PMID:23182154|REF_RGD_ID:9479068 12147301 CAT catalase gene DOID:0060071 pre-malignant neoplasm ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14580687 12147301 CAT catalase gene DOID:0060180 colitis ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:21463646|REF_RGD_ID:5130869 12147301 CAT catalase gene DOID:0080199 colorectal carcinoma treatment ISO RGD:2279 D RGD:9068941 20210611 RGD PMID:29229353|REF_RGD_ID:127284843 12147301 CAT catalase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29718361 12147301 CAT catalase gene DOID:0080600 COVID-19 ISO RGD:732740 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12147301 CAT catalase gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:737448 D RGD:9068941 20200609 RGD PMID:21557843|REF_RGD_ID:7205663 12147301 CAT catalase gene DOID:0081120 Graves ophthalmopathy ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:blood: PMID:20394549|REF_RGD_ID:9071200 12147301 CAT catalase gene DOID:0081120 Graves ophthalmopathy treatment ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:plasma: PMID:15158621|REF_RGD_ID:9086875 12147301 CAT catalase gene DOID:10003 sensorineural hearing loss ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:15109710|REF_RGD_ID:8547516 12147301 CAT catalase gene DOID:10247 pleurisy ISO RGD:737448 D RGD:9068941 20200609 RGD PMID:19778612|REF_RGD_ID:5130749 12147301 CAT catalase gene DOID:10300 Raynaud disease treatment ISO RGD:732740 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;protein:decreased activity:serum: PMID:17401513|REF_RGD_ID:9479162 12147301 CAT catalase gene DOID:10316 pneumoconiosis ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:19273541|REF_RGD_ID:5130756 12147301 CAT catalase gene DOID:10584 retinitis pigmentosa ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:19293779|REF_RGD_ID:8158049 12147301 CAT catalase gene DOID:1059 intellectual disability ISO RGD:732740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12147301 CAT catalase gene DOID:10754 otitis media treatment ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased activity:cochlea,serum: PMID:22173336|REF_RGD_ID:7401215 12147301 CAT catalase gene DOID:10763 hypertension ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:16716903|REF_RGD_ID:1580833 12147301 CAT catalase gene DOID:10763 hypertension ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11479740|PMID:20667508|PMID:21593737|PMID:22228705 12147301 CAT catalase gene DOID:10808 gastric ulcer ISO RGD:2279 D RGD:9068941 20200609 RGD protein:increased expression:stomach PMID:17895592|REF_RGD_ID:5130860 12147301 CAT catalase gene DOID:10808 gastric ulcer ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1887894 12147301 CAT catalase gene DOID:10825 essential hypertension ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:15735318|REF_RGD_ID:1581147 12147301 CAT catalase gene DOID:11054 urinary bladder cancer ISO RGD:732740 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 12147301 CAT catalase gene DOID:11088 asphyxia neonatorum ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963755 12147301 CAT catalase gene DOID:11396 pulmonary edema ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15612528 12147301 CAT catalase gene DOID:11446 sciatic neuropathy ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased activity:sciatic nerve, spinal cord, dorsal root ganglion: PMID:19675389|REF_RGD_ID:9479064 12147301 CAT catalase gene DOID:11650 bronchopulmonary dysplasia ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:19693467|REF_RGD_ID:5130750 12147301 CAT catalase gene DOID:1210 optic neuritis treatment ISO RGD:732740 D RGD:9068941 20200609 RGD associated with Encephalomyelitis, Autoimmune, Experimental; PMID:18055782|REF_RGD_ID:9068881 12147301 CAT catalase gene DOID:1214 tympanosclerosis ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:erythrocyte: PMID:14710000|REF_RGD_ID:9479056 12147301 CAT catalase gene DOID:12306 vitiligo ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:skin: PMID:19439879|REF_RGD_ID:9479169 12147301 CAT catalase gene DOID:12306 vitiligo no_association ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:SNPs:promoter,exon: -89A>T rs7943316), 389C>T (rs769217)(human) PMID:23868633|REF_RGD_ID:9479150 12147301 CAT catalase gene DOID:12306 vitiligo susceptibility ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:SNP,haplotype:promoter,cds:-89A>T,389C>T(human) PMID:20613769|REF_RGD_ID:9479149 12147301 CAT catalase gene DOID:12361 Graves' disease treatment ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:erythrocyte: PMID:12919155|REF_RGD_ID:9068908 12147301 CAT catalase gene DOID:12716 newborn respiratory distress syndrome susceptibility ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:haplotype: : PMID:22574884|REF_RGD_ID:8655661 12147301 CAT catalase gene DOID:12849 autistic disorder ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15205966 12147301 CAT catalase gene DOID:12858 Huntington's disease ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:19445928|REF_RGD_ID:5130752 12147301 CAT catalase gene DOID:1289 neurodegenerative disease treatment ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:26208597|REF_RGD_ID:11557995 12147301 CAT catalase gene DOID:12930 dilated cardiomyopathy ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:10652196|REF_RGD_ID:1581150 12147301 CAT catalase gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:737448 D RGD:9068941 20200609 RGD PMID:22443450|REF_RGD_ID:7205647 12147301 CAT catalase gene DOID:13207 proliferative diabetic retinopathy ISO RGD:732740 D RGD:9068941 20200609 RGD associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum: PMID:24092995|REF_RGD_ID:9068931 12147301 CAT catalase gene DOID:13208 background diabetic retinopathy ISO RGD:732740 D RGD:9068941 20200609 RGD associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum: PMID:24092995|REF_RGD_ID:9068931 12147301 CAT catalase gene DOID:13241 Behcet's disease ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12074830 12147301 CAT catalase gene DOID:13241 Behcet's disease ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:erythrocyte: PMID:17206395|REF_RGD_ID:9068907 12147301 CAT catalase gene DOID:13550 angle-closure glaucoma severity ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.4760C>T(rs1001179)(human) PMID:23961996|REF_RGD_ID:9068947 12147301 CAT catalase gene DOID:13580 cholestasis ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:21339256|REF_RGD_ID:5130873 12147301 CAT catalase gene DOID:13580 cholestasis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12147301 CAT catalase gene DOID:14018 alcoholic liver cirrhosis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 12147301 CAT catalase gene DOID:14323 Marfan syndrome ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 12147301 CAT catalase gene DOID:14566 disease of cellular proliferation ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21854796 12147301 CAT catalase gene DOID:1459 hypothyroidism treatment ISO RGD:2279 D RGD:9068941 20200903 RGD PMID:29896255|REF_RGD_ID:38549578 12147301 CAT catalase gene DOID:1470 major depressive disorder ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20471444 12147301 CAT catalase gene DOID:1596 depressive disorder ISO RGD:732740 D RGD:9068941 20210528 RGD associated with gastric adenocarcinoma; protein:decreased expression:blood serum (human) PMID:31396300|REF_RGD_ID:126908003 12147301 CAT catalase gene DOID:161 keratosis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14580687 12147301 CAT catalase gene DOID:161 keratosis susceptibility ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-262C>T(rs1001179)(human) PMID:14580687|REF_RGD_ID:9479152 12147301 CAT catalase gene DOID:1679 cystitis ISO RGD:2279 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:26109091|REF_RGD_ID:11035303 12147301 CAT catalase gene DOID:1793 pancreatic cancer disease_progression ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:12499913|REF_RGD_ID:2317410 12147301 CAT catalase gene DOID:1824 status epilepticus ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15245787|PMID:15752349|PMID:17383094|PMID:18096215 12147301 CAT catalase gene DOID:1909 melanoma ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:melanocyte: PMID:9758419|REF_RGD_ID:9479151 12147301 CAT catalase gene DOID:1909 melanoma ISO RGD:737448 D RGD:9068941 20200609 RGD protein:increased activity:multiple: PMID:15224238|REF_RGD_ID:9479742 12147301 CAT catalase gene DOID:2237 hepatitis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1937386 12147301 CAT catalase gene DOID:2316 brain ischemia ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:21213399|REF_RGD_ID:5130891 12147301 CAT catalase gene DOID:2316 brain ischemia ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17564305 12147301 CAT catalase gene DOID:2527 nephrosis ISO RGD:732740 D RGD:9068941 20200609 RGD mRNA: decreased expression: glomerulus PMID:20685819|REF_RGD_ID:7205671 12147301 CAT catalase gene DOID:2582 acatalasia IAGP D RGD:12801476 20210603 OMIA Hypocatalasia PMID:11137458|PMID:5308206|PMID:10661897|PMID:10591001|PMID:19122680|PMID:27525650 12147301 CAT catalase gene DOID:2582 acatalasia ISO RGD:732740 D RGD:7240710 20180130 OMIM 12147301 CAT catalase gene DOID:2582 acatalasia ISO RGD:732740 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Acatalasemia, japanese type | ClinVar Annotator: match by term: Acatalasia PMID:11197178|PMID:1551654|PMID:2308162|PMID:25741868|PMID:28492532|PMID:8673475 12147301 CAT catalase gene DOID:2738 pseudoxanthoma elasticum onset ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c.-262C>T(rs1001179)(human) PMID:17693525|REF_RGD_ID:8547520 12147301 CAT catalase gene DOID:2841 asthma ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18048809 12147301 CAT catalase gene DOID:2841 asthma ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-21A>T (human) PMID:19373626|REF_RGD_ID:5130753 12147301 CAT catalase gene DOID:2841 asthma ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-262C>T (human) PMID:18048809|REF_RGD_ID:5130856 12147301 CAT catalase gene DOID:2841 asthma ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:respiratory system fluid/secretion PMID:16622028|REF_RGD_ID:5130867 12147301 CAT catalase gene DOID:2841 asthma ISO RGD:737448 D RGD:9068941 20200609 RGD protein:decreased activity PMID:16622028|REF_RGD_ID:5130867 12147301 CAT catalase gene DOID:2841 asthma severity ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased expression:erythrocyte PMID:19475625|REF_RGD_ID:5130751 12147301 CAT catalase gene DOID:2876 laryngeal squamous cell carcinoma ISO RGD:732740 D RGD:9068941 20220610 RGD protein:increased activity:larynx PMID:8138195|REF_RGD_ID:152995273 12147301 CAT catalase gene DOID:2987 familial Mediterranean fever disease_progression ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:22135646|REF_RGD_ID:9480233 12147301 CAT catalase gene DOID:3070 high grade glioma ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21138464 12147301 CAT catalase gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:20080081|REF_RGD_ID:4293707 12147301 CAT catalase gene DOID:3458 breast adenocarcinoma ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:25050522|REF_RGD_ID:9226881 12147301 CAT catalase gene DOID:3491 Turner syndrome ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 12147301 CAT catalase gene DOID:3602 toxic encephalopathy ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased activity:serum: PMID:16938375|REF_RGD_ID:9068882 12147301 CAT catalase gene DOID:3717 gastric adenocarcinoma ISO RGD:732740 D RGD:9068941 20210507 RGD protein:decreased expression:blood serum (human) PMID:31396300|REF_RGD_ID:126908003 12147301 CAT catalase gene DOID:3770 pulmonary fibrosis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19684199 12147301 CAT catalase gene DOID:3770 pulmonary fibrosis ISO RGD:732740 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:21190578|REF_RGD_ID:5130199 12147301 CAT catalase gene DOID:3908 lung non-small cell carcinoma ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11731445 12147301 CAT catalase gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:plasma: PMID:20204550|REF_RGD_ID:9068926 12147301 CAT catalase gene DOID:4481 allergic rhinitis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29028686 12147301 CAT catalase gene DOID:4483 rhinitis treatment ISO RGD:737448 D RGD:9068941 20200609 RGD protein:increased activity:blood,nasal cavity mucosa: PMID:21541033|REF_RGD_ID:9479054 12147301 CAT catalase gene DOID:5199 ureteral obstruction ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:21305585|REF_RGD_ID:5130876 12147301 CAT catalase gene DOID:520 aortic disease ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 12147301 CAT catalase gene DOID:5679 retinal disease treatment ISO RGD:2279 D RGD:9068941 20200609 RGD associated with radiation injuries;protein:decreased activity:retina: PMID:17514533|REF_RGD_ID:9107626 12147301 CAT catalase gene DOID:5844 myocardial infarction ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:14575298|REF_RGD_ID:1581148 12147301 CAT catalase gene DOID:5844 myocardial infarction ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21600015 12147301 CAT catalase gene DOID:591 phobic disorder ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15309392 12147301 CAT catalase gene DOID:6000 congestive heart failure ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16105639 12147301 CAT catalase gene DOID:6000 congestive heart failure ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:10618301|REF_RGD_ID:1581151 12147301 CAT catalase gene DOID:630 genetic disease ISO RGD:732740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12147301 CAT catalase gene DOID:631 fibromyalgia ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:mononuclear cell: PMID:22532869|REF_RGD_ID:9479066 12147301 CAT catalase gene DOID:6543 acne ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:blood: PMID:16489259|REF_RGD_ID:9479167 12147301 CAT catalase gene DOID:6543 acne ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:leukocyte: PMID:11349462|REF_RGD_ID:9479168 12147301 CAT catalase gene DOID:6543 acne severity ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:23174057|REF_RGD_ID:9479743 12147301 CAT catalase gene DOID:684 hepatocellular carcinoma ISO RGD:732740 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 12147301 CAT catalase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:732740 D RGD:9068941 20200609 RGD associated with liver cirrhosis with Hepatitis C;DNA:SNP:promoter:-262T>C (human) PMID:21907168|REF_RGD_ID:27095879 12147301 CAT catalase gene DOID:7148 rheumatoid arthritis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22450443 12147301 CAT catalase gene DOID:783 end stage renal disease ISO RGD:2279 D RGD:9068941 20200609 RGD protein: decreased expression :kidney PMID:20007347|REF_RGD_ID:6892947 12147301 CAT catalase gene DOID:783 end stage renal disease ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16518626|PMID:19420110 12147301 CAT catalase gene DOID:7998 hyperthyroidism ISO RGD:2279 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:19914224|REF_RGD_ID:9068475 12147301 CAT catalase gene DOID:7998 hyperthyroidism ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23391542 12147301 CAT catalase gene DOID:8295 scabies treatment ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:17884035|REF_RGD_ID:9479747 12147301 CAT catalase gene DOID:83 cataract ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:erythrocyte: PMID:15295623|REF_RGD_ID:9068905 12147301 CAT catalase gene DOID:83 cataract no_association ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:11408722|REF_RGD_ID:9068911 12147301 CAT catalase gene DOID:83 cataract treatment ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased activity:lens: PMID:21635889|REF_RGD_ID:9068909 12147301 CAT catalase gene DOID:850 lung disease ISO RGD:2279 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:20534640|REF_RGD_ID:5130202 12147301 CAT catalase gene DOID:850 lung disease ISO RGD:2279 D RGD:9068941 20200609 RGD Lung Injury PMID:18793622|REF_RGD_ID:5130773 12147301 CAT catalase gene DOID:850 lung disease ISO RGD:2279 D RGD:9068941 20200609 RGD Lung Injury associated with Hyperoxia PMID:19895324|REF_RGD_ID:5130747 12147301 CAT catalase gene DOID:850 lung disease ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-330G>A (rs1001179) (human) PMID:19897513|REF_RGD_ID:5130745 12147301 CAT catalase gene DOID:850 lung disease ISO RGD:737448 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:19151196|REF_RGD_ID:5130768 12147301 CAT catalase gene DOID:850 lung disease ISO RGD:737448 D RGD:9068941 20200609 RGD Lung Injury;protein:decreased expression:lung PMID:21190578|REF_RGD_ID:5130199 12147301 CAT catalase gene DOID:874 bacterial pneumonia ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased expression:lung, plasma PMID:19842849|REF_RGD_ID:5130748 12147301 CAT catalase gene DOID:8741 seborrheic dermatitis ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:scalp: PMID:24001414|REF_RGD_ID:9479166 12147301 CAT catalase gene DOID:8893 psoriasis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12559600 12147301 CAT catalase gene DOID:8893 psoriasis ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:serum: PMID:12602965|REF_RGD_ID:9479159 12147301 CAT catalase gene DOID:8893 psoriasis treatment ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:skin: PMID:12165738|REF_RGD_ID:9479170 12147301 CAT catalase gene DOID:8893 psoriasis treatment ISO RGD:737448 D RGD:9068941 20200609 RGD protein:decreased activity:liver: PMID:24018880|REF_RGD_ID:9479744 12147301 CAT catalase gene DOID:8947 diabetic retinopathy ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:21314438|REF_RGD_ID:5130875 12147301 CAT catalase gene DOID:9000197 Edema ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 12147301 CAT catalase gene DOID:9000307 Presbycusis ISO RGD:737448 D RGD:9068941 20200609 RGD PMID:11678164|REF_RGD_ID:8655636 12147301 CAT catalase gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:732740 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 12147301 CAT catalase gene DOID:9000564 Prehypertension susceptibility ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:23096233|REF_RGD_ID:9068479 12147301 CAT catalase gene DOID:9000918 Disease Progression ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10673208|PMID:11283936|PMID:16081686 12147301 CAT catalase gene DOID:9000965 Neoplasm Metastasis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12538496|PMID:22580338|PMID:23518002 12147301 CAT catalase gene DOID:9001472 Nasal Polyps ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:nasal concha: PMID:16287205|REF_RGD_ID:9479048 12147301 CAT catalase gene DOID:9001488 Human Influenza ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:19959187|REF_RGD_ID:5130744 12147301 CAT catalase gene DOID:9001488 Human Influenza ISO RGD:737448 D RGD:9068941 20200609 RGD PMID:16804020|PMID:20653246|REF_RGD_ID:5130201|REF_RGD_ID:5130864 12147301 CAT catalase gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased expression,decreased activity:retina: PMID:22509733|REF_RGD_ID:9068919 12147301 CAT catalase gene DOID:9002165 Diabetic Nephropathies ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:21525431|REF_RGD_ID:7205665 12147301 CAT catalase gene DOID:9002165 Diabetic Nephropathies ISO RGD:2279 D RGD:9068941 20200609 RGD associated with experimentally induced diabetes PMID:21686137|REF_RGD_ID:7205662 12147301 CAT catalase gene DOID:9002165 Diabetic Nephropathies ISO RGD:2279 D RGD:9068941 20200609 RGD rat gene in db/db mice PMID:20299359|REF_RGD_ID:7205676 12147301 CAT catalase gene DOID:9002165 Diabetic Nephropathies ISO RGD:737448 D RGD:9068941 20200609 RGD PMID:22315314|REF_RGD_ID:7205651 12147301 CAT catalase gene DOID:9002211 Hyperalgesia treatment ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:23658840|PMID:23952340|REF_RGD_ID:9479063|REF_RGD_ID:9479069 12147301 CAT catalase gene DOID:9002315 Kidney Calculi ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24360074 12147301 CAT catalase gene DOID:9002371 Cardiotoxicity ISO RGD:732740 D RGD:9068941 20221208 CTD CTD Direct Evidence: therapeutic PMID:35792220 12147301 CAT catalase gene DOID:9002457 Experimental Arthritis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22450443 12147301 CAT catalase gene DOID:9002910 Hearing Loss, Noise-Induced severity ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:18212468|REF_RGD_ID:9190810 12147301 CAT catalase gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:: PMID:17567781|REF_RGD_ID:9068906 12147301 CAT catalase gene DOID:9002910 Hearing Loss, Noise-Induced treatment ISO RGD:737448 D RGD:9068941 20200609 RGD PMID:23179931|REF_RGD_ID:9068923 12147301 CAT catalase gene DOID:9003049 Femur Head Necrosis susceptibility ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:SNPs:multiple: PMID:18353692|REF_RGD_ID:9479160 12147301 CAT catalase gene DOID:9003106 Renoprival Hypertension ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:22733796|REF_RGD_ID:7206853 12147301 CAT catalase gene DOID:9003507 Premature Birth ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26055944 12147301 CAT catalase gene DOID:9003566 Mesothelioma ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11283936 12147301 CAT catalase gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:20493834|REF_RGD_ID:5130771 12147301 CAT catalase gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:21978706|REF_RGD_ID:9068474 12147301 CAT catalase gene DOID:9004009 Reperfusion Injury ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:19196076|PMID:20888583|REF_RGD_ID:5130200|REF_RGD_ID:5130760 12147301 CAT catalase gene DOID:9004009 Reperfusion Injury ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16682413|PMID:23743330|PMID:23875703|PMID:8215636 12147301 CAT catalase gene DOID:9004062 Hyperhidrosis ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:erythrocyte: PMID:16718367|REF_RGD_ID:9479745 12147301 CAT catalase gene DOID:9004203 Chromosome Breakage ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25172298 12147301 CAT catalase gene DOID:9004464 Skin Neoplasms disease_progression ISO RGD:737448 D RGD:9068941 20200609 RGD PMID:1747937|REF_RGD_ID:9479155 12147301 CAT catalase gene DOID:9004464 Skin Neoplasms treatment ISO RGD:737448 D RGD:9068941 20200609 RGD PMID:21517247|REF_RGD_ID:9479189 12147301 CAT catalase gene DOID:9004484 Sepsis severity ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:15836852|REF_RGD_ID:9068893 12147301 CAT catalase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21749277|PMID:22580338 12147301 CAT catalase gene DOID:9004610 Acute Lung Injury ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15612528 12147301 CAT catalase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased expression:heart left ventricle PMID:19298531|REF_RGD_ID:5130755 12147301 CAT catalase gene DOID:9004673 Hearing Loss, Cisplatin-Induced ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased expression:cochlear: PMID:10220857|REF_RGD_ID:9197256 12147301 CAT catalase gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17227729 12147301 CAT catalase gene DOID:9004989 Protein Deficiency ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15865262 12147301 CAT catalase gene DOID:9005452 Ureteral Calculi ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24360074 12147301 CAT catalase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:20376213|REF_RGD_ID:5130772 12147301 CAT catalase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12123627|PMID:15855331|PMID:20709041 12147301 CAT catalase gene DOID:9005749 Necrosis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17309078|PMID:9548797 12147301 CAT catalase gene DOID:9006024 Hypotension ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15612528 12147301 CAT catalase gene DOID:9006928 Viral Bronchiolitis ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased expression:nasal mucus PMID:21471094|REF_RGD_ID:5130770 12147301 CAT catalase gene DOID:9006928 Viral Bronchiolitis ISO RGD:737448 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:21471094|REF_RGD_ID:5130770 12147301 CAT catalase gene DOID:9007355 Hashimoto Disease ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:plasma: PMID:20204550|REF_RGD_ID:9068926 12147301 CAT catalase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:21138988|REF_RGD_ID:7241599 12147301 CAT catalase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750|PMID:25231249 12147301 CAT catalase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20516118|PMID:21742780|PMID:23518002|PMID:25448439|PMID:27323401|PMID:28881718 12147301 CAT catalase gene DOID:9007692 Insulin Resistance ISO RGD:732740 D RGD:9068941 20200609 RGD associated with Obesity PMID:19188683|REF_RGD_ID:5130761 12147301 CAT catalase gene DOID:9007828 Abnormalities, Drug-Induced ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21252394|PMID:26074427 12147301 CAT catalase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:11510883|REF_RGD_ID:1581149 12147301 CAT catalase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21600015 12147301 CAT catalase gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19109989 12147301 CAT catalase gene DOID:9008510 Chronic Hepatitis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 12147301 CAT catalase gene DOID:9008939 Breast Neoplasms ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25322848 12147301 CAT catalase gene DOID:9009039 Hyperemia ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10792963 12147301 CAT catalase gene DOID:9074 systemic lupus erythematosus ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27497885 12147301 CAT catalase gene DOID:9111 cutaneous leishmaniasis ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:erythrocyte: PMID:9892499|REF_RGD_ID:9479188 12147301 CAT catalase gene DOID:9182 pemphigus ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activities:skin: PMID:22738420|REF_RGD_ID:9479165 12147301 CAT catalase gene DOID:9201 lichen planus ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:erythrocyte: PMID:20372767|REF_RGD_ID:9479158 12147301 CAT catalase gene DOID:9281 phenylketonuria ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased activity:brain: PMID:23232760|REF_RGD_ID:9068874 12147301 CAT catalase gene DOID:9351 diabetes mellitus ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11117918 12147301 CAT catalase gene DOID:9352 type 2 diabetes mellitus ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15111504|PMID:15531508 12147301 CAT catalase gene DOID:9352 type 2 diabetes mellitus ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:plasma: PMID:12357295|REF_RGD_ID:9068922 12147301 CAT catalase gene DOID:9452 fatty liver disease ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:21452373|REF_RGD_ID:5130871 12147301 CAT catalase gene DOID:9452 fatty liver disease ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10860543 12147301 CAT catalase gene DOID:9477 pulmonary embolism ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2510358 12147301 CAT catalase gene DOID:9637 stomatitis ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:10569634|REF_RGD_ID:5130878 12147301 CAT catalase gene DOID:9669 senile cataract ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:serum: PMID:23781296|REF_RGD_ID:9068934 12147301 CAT catalase gene DOID:9669 senile cataract treatment ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:16129095|REF_RGD_ID:10003112 12147301 CAT catalase gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:vitreous humor: PMID:10450379|REF_RGD_ID:9068932 12147301 CAT catalase gene DOID:9743 diabetic neuropathy ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10780678 12147301 CAT catalase gene DOID:9744 type 1 diabetes mellitus ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15111504 12147318 RPS4X ribosomal protein S4 X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12147318 RPS4X ribosomal protein S4 X-linked gene DOID:12849 autistic disorder ISO RGD:1353859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12147318 RPS4X ribosomal protein S4 X-linked gene DOID:630 genetic disease ISO RGD:1353859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12147318 RPS4X ribosomal protein S4 X-linked gene DOID:9008939 Breast Neoplasms ISO RGD:1353859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12147329 SRP72 signal recognition particle 72 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1314481 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 12147329 SRP72 signal recognition particle 72 gene DOID:13580 cholestasis ISO RGD:1314481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12147329 SRP72 signal recognition particle 72 gene DOID:630 genetic disease ISO RGD:1314481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12147329 SRP72 signal recognition particle 72 gene DOID:9001587 Bone Marrow Failure Syndrome 1 ISO RGD:1314481 D RGD:7240710 20180130 OMIM 12147329 SRP72 signal recognition particle 72 gene DOID:9001587 Bone Marrow Failure Syndrome 1 ISO RGD:1314481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone marrow failure syndrome 1 PMID:22541560|PMID:25741868|PMID:28492532 12147329 SRP72 signal recognition particle 72 gene DOID:9004906 Congenital Bone Marrow Failure Syndromes ISO RGD:1314481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12147329 SRP72 signal recognition particle 72 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1314481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12147352 KRT2 keratin 2 gene DOID:0060877 bullous congenital ichthyosiform erythroderma ISO RGD:1342754 D RGD:7240710 20180130 OMIM 12147352 KRT2 keratin 2 gene DOID:0060877 bullous congenital ichthyosiform erythroderma ISO RGD:1342754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ichthyosis bullosa of Siemens PMID:10233323|PMID:10620137|PMID:11531804|PMID:1380918|PMID:2004005|PMID:25741868|PMID:28492532|PMID:7521371|PMID:7524919|PMID:8077693|PMID:9204966|PMID:9804344 12147352 KRT2 keratin 2 gene DOID:1697 ichthyosis susceptibility ISO RGD:1342754 D RGD:9068941 20200609 RGD DNA:mutations PMID:7524919|REF_RGD_ID:1600192 12147352 KRT2 keratin 2 gene DOID:2773 contact dermatitis ISO RGD:1342754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12147352 KRT2 keratin 2 gene DOID:630 genetic disease ISO RGD:1342754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12147352 KRT2 keratin 2 gene DOID:9004728 Ichthyosis Exfoliativa ISO RGD:1342754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ichthyosis exfoliativa PMID:10233323|PMID:2004005|PMID:7521371|PMID:7524919|PMID:8077693 12147364 NRBP1 nuclear receptor binding protein 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1354113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12147364 NRBP1 nuclear receptor binding protein 1 gene DOID:630 genetic disease ISO RGD:1354113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12147399 LDHA lactate dehydrogenase A gene DOID:0050700 cardiomyopathy ISO RGD:736025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15231041 12147399 LDHA lactate dehydrogenase A gene DOID:0080108 myoglobinuria ISO RGD:736025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21332213 12147399 LDHA lactate dehydrogenase A gene DOID:0080600 COVID-19 ISO RGD:736025 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12147399 LDHA lactate dehydrogenase A gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:736025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 12147399 LDHA lactate dehydrogenase A gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:736025 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 12147399 LDHA lactate dehydrogenase A gene DOID:1059 intellectual disability ISO RGD:736025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12147399 LDHA lactate dehydrogenase A gene DOID:1062 Fanconi syndrome ISO RGD:736025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XI PMID:16199547|PMID:17576681|PMID:1953713|PMID:1959923|PMID:2334430|PMID:25741868|PMID:26838040|PMID:28492532|PMID:3092644|PMID:7603529|PMID:7944300|PMID:8327147|PMID:9536098 12147399 LDHA lactate dehydrogenase A gene DOID:1793 pancreatic cancer ISO RGD:736025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29384525 12147399 LDHA lactate dehydrogenase A gene DOID:3910 lung adenocarcinoma ISO RGD:736025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12147399 LDHA lactate dehydrogenase A gene DOID:4195 hyperglycemia ISO RGD:2996 D RGD:9068941 20200609 RGD mRNA:increased expression:beta cell PMID:12438314|REF_RGD_ID:1600277 12147399 LDHA lactate dehydrogenase A gene DOID:5844 myocardial infarction ISO RGD:736025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3279722 12147399 LDHA lactate dehydrogenase A gene DOID:630 genetic disease ISO RGD:736025 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12147399 LDHA lactate dehydrogenase A gene DOID:9002170 Experimental Neoplasms ISO RGD:2996 D RGD:9068941 20200609 RGD PMID:11085542|REF_RGD_ID:1600281 12147399 LDHA lactate dehydrogenase A gene DOID:9003665 Glycogen Storage Disease XI ISO RGD:736025 D RGD:7240710 20180130 OMIM 12147399 LDHA lactate dehydrogenase A gene DOID:9003665 Glycogen Storage Disease XI ISO RGD:736025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XI | ClinVar Annotator: match by term: Lactate dehydrogenase deficiency type A PMID:16199547|PMID:17576681|PMID:1953713|PMID:1959923|PMID:2334430|PMID:25741868|PMID:26838040|PMID:28492532|PMID:3092644|PMID:7603529|PMID:7944300|PMID:8327147|PMID:9536098 12147399 LDHA lactate dehydrogenase A gene DOID:9004590 Acute Liver Failure ISO RGD:736025 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 12147399 LDHA lactate dehydrogenase A gene DOID:9006205 Animal Disease Models ISO RGD:736025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12147421 EIF4G3 eukaryotic translation initiation factor 4 gamma 3 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1322792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12147421 EIF4G3 eukaryotic translation initiation factor 4 gamma 3 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1322792 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12147421 EIF4G3 eukaryotic translation initiation factor 4 gamma 3 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1322792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12147421 EIF4G3 eukaryotic translation initiation factor 4 gamma 3 gene DOID:10283 prostate cancer ISO RGD:1322792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12147421 EIF4G3 eukaryotic translation initiation factor 4 gamma 3 gene DOID:630 genetic disease ISO RGD:1322792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12147421 EIF4G3 eukaryotic translation initiation factor 4 gamma 3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1322792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12147474 SNX1 sorting nexin 1 gene DOID:0110935 nemaline myopathy 6 ISO RGD:68962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12147474 SNX1 sorting nexin 1 gene DOID:2717 Bloom syndrome ISO RGD:68962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12147474 SNX1 sorting nexin 1 gene DOID:630 genetic disease ISO RGD:68962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12147474 SNX1 sorting nexin 1 gene DOID:9256 colorectal cancer ISO RGD:68962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12147496 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603206 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12147496 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0110198 Charcot-Marie-Tooth disease recessive intermediate C ISO RGD:1603206 D RGD:7240710 20180130 OMIM 12147496 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0110198 Charcot-Marie-Tooth disease recessive intermediate C ISO RGD:1603206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate C PMID:16199547|PMID:17564964|PMID:23777631|PMID:23844677|PMID:25741868|PMID:26392352|PMID:28492532 12147496 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1603206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:16728649|PMID:17564964 12147496 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0111213 distal spinal muscular atrophy type 4 ISO RGD:1603206 D RGD:7240710 20180130 OMIM 12147496 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0111213 distal spinal muscular atrophy type 4 ISO RGD:1603206 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive lower motor neuron disease with childhood onset | ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 4 PMID:16199547|PMID:16728649|PMID:17564964|PMID:17576681|PMID:23777631|PMID:23844677|PMID:24497998|PMID:25741868|PMID:26392352|PMID:26752306|PMID:28160950|PMID:28492532|PMID:33220101|PMID:9536098 12147496 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:11612 polycystic ovary syndrome ISO RGD:1603206 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12147496 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:12377 spinal muscular atrophy ISO RGD:1603206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:17576681|PMID:28492532|PMID:9536098 12147496 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1603206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 12147496 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:574 peripheral nervous system disease ISO RGD:1603206 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 12147496 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:630 genetic disease ISO RGD:1603206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17564964|PMID:17576681|PMID:23777631|PMID:24497998|PMID:25741868|PMID:26392352|PMID:26752306|PMID:28160950|PMID:28492532|PMID:9536098 12147496 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:870 neuropathy ISO RGD:1603206 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 12147496 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:9000276 Juvenile Amyotrophic Lateral Sclerosis ISO RGD:1603206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis PMID:25741868 12147496 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12147496 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:9004930 Spinal Muscular Atrophy, Facioscapulohumeral Type ISO RGD:1603206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, facioscapulohumeral type 12147532 TMEM183A transmembrane protein 183A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1320480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12147532 TMEM183A transmembrane protein 183A gene DOID:10283 prostate cancer ISO RGD:1320480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12147532 TMEM183A transmembrane protein 183A gene DOID:1540 parathyroid carcinoma ISO RGD:1320480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12147532 TMEM183A transmembrane protein 183A gene DOID:630 genetic disease ISO RGD:1320480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12147532 TMEM183A transmembrane protein 183A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1320480 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12147532 TMEM183A transmembrane protein 183A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12147546 PLEKHH1 pleckstrin homology, MyTH4 and FERM domain containing H1 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1318086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 12147546 PLEKHH1 pleckstrin homology, MyTH4 and FERM domain containing H1 gene DOID:630 genetic disease ISO RGD:1318086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12147546 PLEKHH1 pleckstrin homology, MyTH4 and FERM domain containing H1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12147588 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:0060163 body dysmorphic disorder ISO RGD:1606030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:25741868 12147588 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12147588 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1606030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 12147588 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1606030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 12147588 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 ISO RGD:1606030 D RGD:7240710 20190315 OMIM 12147588 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 ISO RGD:1606030 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED | ClinVar Annotator: match by term: Intellectual disability, X-linked 99, syndromic, female-restricted PMID:25741868|PMID:26833328|PMID:28492532|PMID:34008892 12147588 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:0112026 non-syndromic X-linked intellectual disability 99 ISO RGD:1606030 D RGD:7240710 20180130 OMIM 12147588 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:0112026 non-syndromic X-linked intellectual disability 99 ISO RGD:1606030 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 | ClinVar Annotator: match by term: USP9X related disorders PMID:19377476|PMID:24607389|PMID:25741868|PMID:26833328|PMID:28492532|PMID:31443933|PMID:33298948 12147588 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:0112048 non-syndromic X-linked intellectual disability 101 ISO RGD:1606030 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked 101 PMID:25741868 12147588 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:1059 intellectual disability ISO RGD:1606030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12147588 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:12849 autistic disorder ISO RGD:1606030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12147588 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:1826 epilepsy ISO RGD:1606030 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12147588 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:630 genetic disease ISO RGD:1606030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24607389|PMID:24690944|PMID:25741868|PMID:25763846|PMID:26833328|PMID:28492532|PMID:28688840|PMID:31443933 12147588 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12147588 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:9008086 Developmental Disabilities ISO RGD:1606030 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:36937954 12147588 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:9008582 Developmental Disease ISO RGD:1606030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12147588 USP9X ubiquitin specific peptidase 9 X-linked gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1606030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 12147630 HSD17B6 hydroxysteroid 17-beta dehydrogenase 6 gene DOID:630 genetic disease ISO RGD:1602229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12147630 HSD17B6 hydroxysteroid 17-beta dehydrogenase 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602229 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:69201 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736283 D RGD:9068941 20200609 RGD protein:decreased expression:liver (mouse) PMID:29710028|REF_RGD_ID:25671411 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:0080745 polymyositis ISO RGD:69201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20427501 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:0080883 vitamin D-dependent rickets ISO RGD:69201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitamin D-dependent rickets 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:0080886 vitamin D-dependent rickets type 1A ISO RGD:69201 D RGD:7240710 20180130 OMIM 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:0080886 vitamin D-dependent rickets type 1A ISO RGD:69201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 1A PMID:10518789|PMID:10566658|PMID:11737215|PMID:12050193|PMID:17488797|PMID:18394115|PMID:20926527|PMID:21700898|PMID:22190362|PMID:22443290|PMID:22588163|PMID:23423976|PMID:23444327|PMID:23483640|PMID:24197768|PMID:25284246|PMID:25741868|PMID:27287609|PMID:28492532|PMID:30282619|PMID:31261480|PMID:35738466|PMID:9415400|PMID:9486994|PMID:9837822 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:0080886 vitamin D-dependent rickets type 1A treatment ISO XCO:0000545 D RGD:9068941 20210326 RGD PMID:32231239|REF_RGD_ID:32716373 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:0090109 autosomal dominant hypocalcemia ISO RGD:736283 D RGD:9068941 20200609 RGD PMID:11416220|REF_RGD_ID:734871 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:10609 rickets ISO RGD:69201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16494812 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:10609 rickets ISO RGD:69201 D RGD:9068941 20200609 RGD vitamin D-dependent rickets type I, OMIM:264700;DNA:missense mutations: :R107H, G125E, R335P, P382S PMID:9486994|REF_RGD_ID:1600874 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:10609 rickets ISO RGD:736283 D RGD:9068941 20200609 RGD PMID:11416220|REF_RGD_ID:734871 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:10609 rickets ISO RGD:736283 D RGD:9068941 20220825 MouseDO OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:12678 hypercalcemia ISO RGD:69201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20427501 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:13543 hyperparathyroidism ISO RGD:736283 D RGD:9068941 20200609 RGD PMID:11416220|REF_RGD_ID:734871 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:2043 hepatitis B severity ISO RGD:69201 D RGD:9068941 20200609 RGD DNA:SNP:promoter: -1260C>A (rs10877012) (human) PMID:22963605|REF_RGD_ID:25671410 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:2527 nephrosis ISO RGD:69192 D RGD:9068941 20200609 RGD PMID:1328752|REF_RGD_ID:2307321 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:3021 acute kidney failure ISO RGD:69192 D RGD:9068941 20200609 RGD PMID:6223803|REF_RGD_ID:2307326 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:630 genetic disease ISO RGD:69201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20926527|PMID:25363760|PMID:25741868|PMID:28492532|PMID:9536098 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:6846 familial melanoma ISO RGD:69201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:893 Wilson disease ISO RGD:69192 D RGD:9068941 20200609 RGD PMID:3348368|REF_RGD_ID:2307322 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:9002802 Acidoses ISO RGD:69192 D RGD:9068941 20200609 RGD PMID:6282936|REF_RGD_ID:2307324 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:69201 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: 1260C>A (rs10877012) (human) PMID:21145801|REF_RGD_ID:25671413 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69192 D RGD:9068941 20200609 RGD PMID:3295473|REF_RGD_ID:2307313 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:9006359 Vitamin D Deficiency susceptibility ISO RGD:69201 D RGD:9068941 20200609 RGD associated with Diabetes, Gestational;DNA:polymorphism:promoter:g.-1260C>A PMID:18476984|REF_RGD_ID:2307310 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736283 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney (mouse) PMID:26476181|REF_RGD_ID:25671412 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:9452 fatty liver disease ISO RGD:736283 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (mouse) PMID:31175967|REF_RGD_ID:25671414 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:69201 D RGD:9068941 20200609 RGD DNA, mRNA:polymorphism, decreased expression:promoter:g.-1260C>A (human) PMID:17223345|REF_RGD_ID:2307312 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:69201 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, intron:g.-1260C>A, g.2838T>C (human) PMID:17606874|REF_RGD_ID:2307311 12147645 CYP27B1 cytochrome P450 family 27 subfamily B member 1 gene DOID:9970 obesity susceptibility ISO RGD:69201 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphisms:promoter, intron:g.-1260C>A, g.2838T>C (human) PMID:17223345|REF_RGD_ID:2307312 12147658 SIX3 SIX homeobox 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:733474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12147658 SIX3 SIX homeobox 3 gene DOID:0110872 holoprosencephaly 2 ISO RGD:733474 D RGD:7240710 20180130 OMIM 12147658 SIX3 SIX homeobox 3 gene DOID:0110872 holoprosencephaly 2 ISO RGD:733474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 2 PMID:10369266|PMID:10923031|PMID:11039582|PMID:15221788|PMID:15523651|PMID:17001667|PMID:17584896|PMID:18791198|PMID:18989625|PMID:19346217|PMID:19353631|PMID:20157829|PMID:20531442|PMID:25741868|PMID:26080100|PMID:26467025|PMID:28492532|PMID:32796691|PMID:34008892 12147658 SIX3 SIX homeobox 3 gene DOID:0111380 solitary median maxillary central incisor ISO RGD:733474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome PMID:18791198|PMID:19346217|PMID:20157829|PMID:26080100|PMID:26467025|PMID:28492532 12147658 SIX3 SIX homeobox 3 gene DOID:3883 Lynch syndrome ISO RGD:733474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12147658 SIX3 SIX homeobox 3 gene DOID:4621 holoprosencephaly ISO RGD:733474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10369266 12147658 SIX3 SIX homeobox 3 gene DOID:4621 holoprosencephaly ISO RGD:733474 D RGD:9068941 20200609 RGD PMID:10369266|PMID:15523651|REF_RGD_ID:1599335|REF_RGD_ID:1599336 12147658 SIX3 SIX homeobox 3 gene DOID:630 genetic disease ISO RGD:733474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12147658 SIX3 SIX homeobox 3 gene DOID:9006637 Schizencephaly ISO RGD:733474 D RGD:7240710 20190327 OMIM 12147658 SIX3 SIX homeobox 3 gene DOID:9006637 Schizencephaly ISO RGD:733474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizencephaly PMID:18791198|PMID:19346217|PMID:20157829|PMID:25741868|PMID:26080100|PMID:26467025|PMID:28492532 12147658 SIX3 SIX homeobox 3 gene DOID:9007188 Liver Neoplasms ISO RGD:733474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:0060812 syndromic X-linked intellectual disability Siderius type ISO RGD:737217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Siderius type PMID:25741868 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:737217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:0111545 familial male-limited precocious puberty ISO RGD:737217 D RGD:7240710 20180130 OMIM 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:0111545 familial male-limited precocious puberty ISO RGD:737217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial male-limited precocious puberty | ClinVar Annotator: match by term: Gonadotropin-independent familial sexual precocity PMID:10084607|PMID:11134146|PMID:11391350|PMID:11849253|PMID:11867621|PMID:12679452|PMID:16123233|PMID:16684832|PMID:16887451|PMID:17030087|PMID:17055147|PMID:17055151|PMID:21490077|PMID:2244890|PMID:23686864|PMID:23861372|PMID:23982246|PMID:25741868|PMID:25741869|PMID:26040673|PMID:26467025|PMID:27532428|PMID:28339861|PMID:28492532|PMID:29654692|PMID:30283825|PMID:31967000|PMID:7527413|PMID:7556872|PMID:7562970|PMID:7692306|PMID:7714085|PMID:7757065|PMID:7892197|PMID:8855841|PMID:8929952|PMID:8943222|PMID:9039330|PMID:9467560|PMID:9661624|PMID:9703386|PMID:9851790 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:0112259 Leydig cell hypoplasia ISO RGD:737217 D RGD:7240710 20180130 OMIM 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:0112259 Leydig cell hypoplasia ISO RGD:737217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPERGONADOTROPIC HYPOGONADISM, MALE, DUE TO LHCGR DEFECT | ClinVar Annotator: match by term: Leydig cell agenesis | ClinVar Annotator: match by term: Luteinizing hormone resistance, female PMID:11041448|PMID:11849253|PMID:12050206|PMID:12679452|PMID:15372531|PMID:15472221|PMID:16123233|PMID:21490077|PMID:2244890|PMID:23861372|PMID:25741868|PMID:25741869|PMID:26040673|PMID:26246498|PMID:26467025|PMID:27016457|PMID:27533885|PMID:28339861|PMID:28492532|PMID:30283825|PMID:31967000|PMID:7527413|PMID:7556872|PMID:7562970|PMID:7581384|PMID:7692306|PMID:7714085|PMID:7719343|PMID:7757065|PMID:7892197|PMID:8559204|PMID:8855841|PMID:8923827|PMID:8943222|PMID:9514160|PMID:9626144|PMID:9703386|PMID:9817592|PMID:9851790 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:0112260 Leydig cell hypoplasia type I ISO RGD:737217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leydig cell hypoplasia, type 1 | ClinVar Annotator: match by term: Leydig hypoplasia, type I PMID:11041448|PMID:12679452|PMID:21490077|PMID:2244890|PMID:23861372|PMID:25741868|PMID:26040673|PMID:26246498|PMID:26467025|PMID:27016457|PMID:27533885|PMID:28339861|PMID:28492532|PMID:30283825|PMID:31967000|PMID:7527413|PMID:7556872|PMID:7562970|PMID:7692306|PMID:7714085|PMID:7757065|PMID:7892197|PMID:8559204|PMID:8855841|PMID:8943222|PMID:9703386|PMID:9851790 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:0112261 Leydig cell hypoplasia type II ISO RGD:737217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leydig cell hypoplasia, type II PMID:10852464|PMID:9215288|PMID:9626653 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:12336 male infertility ISO RGD:737217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20164437 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:1612 breast cancer ISO RGD:737217 D RGD:9068941 20200609 RGD DNA:SNP:CDS:rs2293275, 312Asn allele associated with a slight increase in risk in two patient cohorts (p=0.03 and p=0.001) PMID:17709176|REF_RGD_ID:2292539 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:1612 breast cancer onset ISO RGD:737217 D RGD:9068941 20200609 RGD DNA:insertion:CDS:insLQ allele associated with earlier onset (51.9 vs 60.2 yrs, p=0.03) PMID:12679452|REF_RGD_ID:2292545 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:1612 breast cancer severity ISO RGD:737217 D RGD:9068941 20200609 RGD DNA:insertion:CDS:insLQ allele associated with decreased disease free survival alone (p=0.007) or in combination with the 16Ser allele of GNRH1 (p=0.001) PMID:17692113|REF_RGD_ID:2292541 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:1923 disorder of sexual development ISO RGD:737217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22615892 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:1924 hypogonadism ISO RGD:737217 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hypergonadotropic hypogonadism PMID:12679452|PMID:2244890|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7556872|PMID:9851790 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:2277 gonadal disease susceptibility ISO RGD:737217 D RGD:9068941 20200609 RGD DNA:transition: ; 1192T>C, precocious puberty, OMIM:176410 PMID:8929952|REF_RGD_ID:1600291 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:2696 Leydig cell tumor ISO RGD:10870 D RGD:9068941 20200609 RGD PMID:15967102|REF_RGD_ID:2302176 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:2696 Leydig cell tumor ISO RGD:737217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10580072|PMID:11857565 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:2696 Leydig cell tumor ISO RGD:737217 D RGD:9068941 20200609 RGD DNA:transversion:CDS:1732G>C, amino acid D578H PMID:11857565|REF_RGD_ID:2292537 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:2999 granulosa cell tumor ISO RGD:10870 D RGD:9068941 20200609 RGD PMID:15967102|REF_RGD_ID:2302176 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:2999 granulosa cell tumor ISO RGD:737217 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.05) PMID:11994539|REF_RGD_ID:2289157 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:3114 serous cystadenocarcinoma ISO RGD:737217 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.05) PMID:11994539|REF_RGD_ID:2289157 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:3603 mucinous cystadenocarcinoma ISO RGD:737217 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.01) PMID:11994539|REF_RGD_ID:2289157 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:3765 pseudohermaphroditism ISO RGD:737217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudohermaphroditism 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:630 genetic disease ISO RGD:737217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:9002762 Ovarian Neoplasms ISO RGD:737217 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary PMID:11994539|REF_RGD_ID:2289157 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:9002826 Somatic Leydig Cell Adenoma, with Male-Limited Precocious Puberty ISO RGD:737217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leydig cell adenoma, somatic, with male-limited precocious puberty PMID:10580072|PMID:11857565 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:737217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3007 D RGD:9068941 20200609 RGD mRNA:splice variant (rat) PMID:15044717|REF_RGD_ID:2302177 12147669 LHCGR luteinizing hormone/choriogonadotropin receptor gene DOID:9008502 Anorchia ISO RGD:737217 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Testicular regression syndrome PMID:25741868 12147687 BBS9 Bardet-Biedl syndrome 9 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1603660 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:16380913|PMID:20177705|PMID:23757202|PMID:25741868|PMID:28492532 12147687 BBS9 Bardet-Biedl syndrome 9 gene DOID:0110131 Bardet-Biedl syndrome 9 ISO RGD:1603660 D RGD:7240710 20180130 OMIM 12147687 BBS9 Bardet-Biedl syndrome 9 gene DOID:0110131 Bardet-Biedl syndrome 9 ISO RGD:1603660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 9 | ClinVar Annotator: match by term: Retinal vascular dystrophy PMID:16380913|PMID:17576681|PMID:20177705|PMID:21209035|PMID:22353939|PMID:23160099|PMID:23757202|PMID:24746959|PMID:24849935|PMID:25741868|PMID:26518167|PMID:27486776|PMID:27708425|PMID:28492532|PMID:29096039|PMID:29970488|PMID:30614526|PMID:30718709|PMID:30773290|PMID:31054281|PMID:31488071|PMID:31888296|PMID:9536098 12147687 BBS9 Bardet-Biedl syndrome 9 gene DOID:10584 retinitis pigmentosa ISO RGD:1603660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:30718709 12147687 BBS9 Bardet-Biedl syndrome 9 gene DOID:1059 intellectual disability ISO RGD:1603660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12147687 BBS9 Bardet-Biedl syndrome 9 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16199547|PMID:16380913|PMID:17576681|PMID:20177705|PMID:21209035|PMID:23160099|PMID:23757202|PMID:24746959|PMID:24849935|PMID:25640679|PMID:25741868|PMID:26355662|PMID:27708425|PMID:28492532|PMID:29096039|PMID:29970488|PMID:30614526|PMID:30718709|PMID:31054281|PMID:31488071|PMID:31888296|PMID:32686083|PMID:33138063|PMID:33616283|PMID:33964006|PMID:9536098 12147687 BBS9 Bardet-Biedl syndrome 9 gene DOID:2340 craniosynostosis ISO RGD:1603660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23160099 12147687 BBS9 Bardet-Biedl syndrome 9 gene DOID:2340 craniosynostosis susceptibility ISO RGD:1603660 D RGD:9068941 20200609 RGD DNA:SNPs:introns:rs10262453,rs17724206,rs1884302(human) PMID:23160099|REF_RGD_ID:9684995 12147687 BBS9 Bardet-Biedl syndrome 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12147687 BBS9 Bardet-Biedl syndrome 9 gene DOID:5419 schizophrenia ISO RGD:1603660 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12147687 BBS9 Bardet-Biedl syndrome 9 gene DOID:5426 primary ovarian insufficiency susceptibility ISO RGD:1603660 D RGD:9068941 20200609 RGD DNA:SNPs,haplotypes: : PMID:18349106|REF_RGD_ID:9684994 12147687 BBS9 Bardet-Biedl syndrome 9 gene DOID:630 genetic disease ISO RGD:1603660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31888296 12147687 BBS9 Bardet-Biedl syndrome 9 gene DOID:8501 fundus dystrophy ISO RGD:1603660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16380913|PMID:20177705|PMID:28492532 12147687 BBS9 Bardet-Biedl syndrome 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12147687 BBS9 Bardet-Biedl syndrome 9 gene DOID:9008296 Eye Abnormalities ISO RGD:1603660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:16380913|PMID:20177705|PMID:24746959|PMID:25741868|PMID:27708425|PMID:28492532 12147758 FUCA2 alpha-L-fucosidase 2 gene DOID:0080600 COVID-19 ISO RGD:1344103 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12147758 FUCA2 alpha-L-fucosidase 2 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1344103 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532 12147758 FUCA2 alpha-L-fucosidase 2 gene DOID:630 genetic disease ISO RGD:1344103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12147758 FUCA2 alpha-L-fucosidase 2 gene DOID:9002189 High Myopia ISO RGD:1344103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12147769 DLG2 discs large MAGUK scaffold protein 2 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:731938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 12147769 DLG2 discs large MAGUK scaffold protein 2 gene DOID:1059 intellectual disability ISO RGD:731938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12147769 DLG2 discs large MAGUK scaffold protein 2 gene DOID:1909 melanoma ISO RGD:731938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12147769 DLG2 discs large MAGUK scaffold protein 2 gene DOID:5419 schizophrenia ISO RGD:731938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12147769 DLG2 discs large MAGUK scaffold protein 2 gene DOID:630 genetic disease ISO RGD:731938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12147851 INPP5J inositol polyphosphate-5-phosphatase J gene DOID:630 genetic disease ISO RGD:1349321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12147868 RUFY4 RUN and FYVE domain containing 4 gene DOID:630 genetic disease ISO RGD:1602820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12147868 RUFY4 RUN and FYVE domain containing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12147891 PROM1 prominin 1 gene DOID:0050439 Usher syndrome ISO RGD:1345263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome 12147891 PROM1 prominin 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1345263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:10205271|PMID:16199547|PMID:17605048|PMID:19718270|PMID:23591405|PMID:23757202|PMID:24154662|PMID:24474277|PMID:25474345|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26261540|PMID:26702251|PMID:27874104|PMID:28041643|PMID:28492532|PMID:30588538|PMID:31199449 12147891 PROM1 prominin 1 gene DOID:0050777 Joubert syndrome ISO RGD:1345263 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12147891 PROM1 prominin 1 gene DOID:0050817 Stargardt disease ISO RGD:1345263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:10205271|PMID:12657606|PMID:16199547|PMID:17576681|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:24154662|PMID:24516651|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26261540|PMID:27874104|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29847639|PMID:30578500|PMID:30588538|PMID:30718709|PMID:31129250|PMID:9536098 12147891 PROM1 prominin 1 gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1345263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:17605048|PMID:19718270|PMID:24154662|PMID:24938718|PMID:25474345|PMID:25741868|PMID:28492532|PMID:31054281 12147891 PROM1 prominin 1 gene DOID:0110376 retinitis pigmentosa 41 ISO RGD:1345263 D RGD:7240710 20180130 OMIM 12147891 PROM1 prominin 1 gene DOID:0110376 retinitis pigmentosa 41 ISO RGD:1345263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 41 PMID:10205271|PMID:10587575|PMID:16199547|PMID:17605048|PMID:19718270|PMID:20042663|PMID:24154662|PMID:24516651|PMID:24938718|PMID:25356976|PMID:25472526|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26261540|PMID:26355662|PMID:26872967|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28492532|PMID:29343940|PMID:29555955|PMID:30578500|PMID:30588538|PMID:31054281|PMID:31129250|PMID:31199449 12147891 PROM1 prominin 1 gene DOID:0111005 cone-rod dystrophy 2 ISO RGD:1345263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 PMID:10205271|PMID:17605048|PMID:19718270|PMID:24154662|PMID:25474345|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26153215|PMID:26261540|PMID:27874104|PMID:28041643|PMID:28492532|PMID:30588538 12147891 PROM1 prominin 1 gene DOID:0111019 cone-rod dystrophy 12 ISO RGD:1345263 D RGD:7240710 20180130 OMIM 12147891 PROM1 prominin 1 gene DOID:0111019 cone-rod dystrophy 12 ISO RGD:1345263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 12 PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20554613|PMID:20859302|PMID:22025579|PMID:22183351|PMID:22581970|PMID:23105016|PMID:23591405|PMID:24154662|PMID:24265693|PMID:24474277|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26261540|PMID:26355662|PMID:26702251|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30588538|PMID:30718709|PMID:31199449|PMID:32820593|PMID:33546218 12147891 PROM1 prominin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1345263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23105016|PMID:23757202|PMID:24154662|PMID:24265693|PMID:24938718|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26261540|PMID:26355662|PMID:26393467|PMID:26872967|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29186038|PMID:29847639|PMID:30718709 12147891 PROM1 prominin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1345263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23105016|PMID:23757202|PMID:24154662|PMID:24265693|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26261540|PMID:26355662|PMID:26393467|PMID:26872967|PMID:27874104|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29186038|PMID:29847639|PMID:30588538|PMID:30718709 12147891 PROM1 prominin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1345263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23105016|PMID:23757202|PMID:24154662|PMID:24265693|PMID:24938718|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26261540|PMID:26355662|PMID:26872967|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29186038|PMID:29847639|PMID:30215852|PMID:30588538|PMID:30718709|PMID:32581362 12147891 PROM1 prominin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1345263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23105016|PMID:23757202|PMID:24154662|PMID:24265693|PMID:24938718|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26261540|PMID:26355662|PMID:26872967|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29186038|PMID:29847639|PMID:30215852|PMID:30588538|PMID:30718709|PMID:32581362|PMID:32820593 12147891 PROM1 prominin 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1345263 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32673656 12147891 PROM1 prominin 1 gene DOID:3068 glioblastoma ISO RGD:1345263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18679414|PMID:18829568|PMID:19718438 12147891 PROM1 prominin 1 gene DOID:4448 macular degeneration ISO RGD:1345263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:10205271|PMID:12657606|PMID:18654668|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:25356976|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29847639|PMID:30718709 12147891 PROM1 prominin 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:1345263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21919130 12147891 PROM1 prominin 1 gene DOID:630 genetic disease ISO RGD:1345263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12147891 PROM1 prominin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1331934 D RGD:9068941 20210423 RGD mRNA:increased expression:liver (mouse) PMID:26569409|REF_RGD_ID:11344640 12147891 PROM1 prominin 1 gene DOID:8501 fundus dystrophy ISO RGD:1345263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20554613|PMID:20859302|PMID:22025579|PMID:22183351|PMID:22581970|PMID:23105016|PMID:24154662|PMID:24265693|PMID:24547909|PMID:24763286|PMID:25356976|PMID:25472526|PMID:25474345|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26153215|PMID:26261540|PMID:26872967|PMID:27208204|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29555955|PMID:29847639|PMID:30029497|PMID:30576320|PMID:30578500|PMID:30588538|PMID:30718709|PMID:31129250|PMID:32581362|PMID:33546218 12147891 PROM1 prominin 1 gene DOID:9000565 Stargardt Disease 4 ISO RGD:1345263 D RGD:7240710 20180130 OMIM 12147891 PROM1 prominin 1 gene DOID:9000565 Stargardt Disease 4 ISO RGD:1345263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Stargardt Disease, Dominant | ClinVar Annotator: match by term: Stargardt disease 4 PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20554613|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23591405|PMID:23757202|PMID:24154662|PMID:24265693|PMID:24474277|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:26161267|PMID:26355662|PMID:27208204|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29416601|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:31576780|PMID:32820593|PMID:33546218 12147891 PROM1 prominin 1 gene DOID:9002240 Retinal Macular Dystrophy 2 ISO RGD:1345263 D RGD:7240710 20180130 OMIM 12147891 PROM1 prominin 1 gene DOID:9002240 Retinal Macular Dystrophy 2 ISO RGD:1345263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal macular dystrophy type 2 PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:24154662|PMID:24265693|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:26161267|PMID:26355662|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29847639|PMID:30215852|PMID:30718709|PMID:32820593 12147891 PROM1 prominin 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1345263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21188121 12147891 PROM1 prominin 1 gene DOID:9004268 Uterine Neoplasms ISO RGD:1345263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21919130 12147891 PROM1 prominin 1 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1345263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus PMID:10205271|PMID:17605048|PMID:19718270|PMID:24154662|PMID:25474345|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26261540|PMID:27874104|PMID:28041643|PMID:28492532|PMID:30588538 12147891 PROM1 prominin 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1345263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29626521 12147891 PROM1 prominin 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18829568 12147891 PROM1 prominin 1 gene DOID:9351 diabetes mellitus ISO RGD:69367 D RGD:9068941 20200609 RGD PMID:11237753|REF_RGD_ID:68837 12147932 LITAF lipopolysaccharide induced TNF factor gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:735583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 12147932 LITAF lipopolysaccharide induced TNF factor gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:735583 D RGD:7240710 20180130 OMIM 12147932 LITAF lipopolysaccharide induced TNF factor gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:735583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:12525712|PMID:1407588|PMID:15122712|PMID:15776420|PMID:15776429|PMID:15786462|PMID:16118794|PMID:16373087|PMID:16787513|PMID:17576681|PMID:19541485|PMID:20301384|PMID:20709679|PMID:21896645|PMID:2239969|PMID:22765307|PMID:23166352|PMID:23319192|PMID:23359569|PMID:23576546|PMID:24604904|PMID:24844793|PMID:24880540|PMID:25058650|PMID:25342198|PMID:25614874|PMID:25741868|PMID:25963657|PMID:26392352|PMID:26467025|PMID:27549087|PMID:28211240|PMID:28492532|PMID:32376792|PMID:9536098 12147932 LITAF lipopolysaccharide induced TNF factor gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:735583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:12525712|PMID:1407588|PMID:15122712|PMID:15776420|PMID:15776429|PMID:15786462|PMID:16373087|PMID:16787513|PMID:19541485|PMID:20301384|PMID:20709679|PMID:21896645|PMID:2239969|PMID:22765307|PMID:23166352|PMID:23319192|PMID:23576546|PMID:24604904|PMID:24844793|PMID:24880540|PMID:25058650|PMID:25342198|PMID:25741868|PMID:26392352|PMID:26467025|PMID:27549087|PMID:28211240|PMID:28492532|PMID:32376792 12147932 LITAF lipopolysaccharide induced TNF factor gene DOID:12377 spinal muscular atrophy ISO RGD:735583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy 12147932 LITAF lipopolysaccharide induced TNF factor gene DOID:2538 Landau-Kleffner syndrome ISO RGD:735583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 12147932 LITAF lipopolysaccharide induced TNF factor gene DOID:5419 schizophrenia ISO RGD:735583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12147932 LITAF lipopolysaccharide induced TNF factor gene DOID:5812 MHC class II deficiency ISO RGD:735583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12147932 LITAF lipopolysaccharide induced TNF factor gene DOID:630 genetic disease ISO RGD:735583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12525712|PMID:1407588|PMID:15122712|PMID:15776429|PMID:15786462|PMID:16373087|PMID:16787513|PMID:17576681|PMID:20301384|PMID:2239969|PMID:22765307|PMID:23319192|PMID:23576546|PMID:24604904|PMID:25058650|PMID:25614874|PMID:25741868|PMID:26392352|PMID:26467025|PMID:27549087|PMID:28211240|PMID:28492532|PMID:32376792|PMID:9536098 12147932 LITAF lipopolysaccharide induced TNF factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:735583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29845714 12147932 LITAF lipopolysaccharide induced TNF factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69294 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:21575160|REF_RGD_ID:11533943 12147940 GPR161 G protein-coupled receptor 161 gene DOID:0050902 medulloblastoma ISO RGD:1607069 D RGD:7240710 20221102 OMIM 12147940 GPR161 G protein-coupled receptor 161 gene DOID:0050902 medulloblastoma ISO RGD:1607069 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:31609649 12147940 GPR161 G protein-coupled receptor 161 gene DOID:0111942 immunodeficiency 25 ISO RGD:1607069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 12147940 GPR161 G protein-coupled receptor 161 gene DOID:1540 parathyroid carcinoma ISO RGD:1607069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12147940 GPR161 G protein-coupled receptor 161 gene DOID:630 genetic disease ISO RGD:1607069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12147940 GPR161 G protein-coupled receptor 161 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1607069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:23332756|PMID:23806086|PMID:25322266 12147940 GPR161 G protein-coupled receptor 161 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12147963 SLC28A3 solute carrier family 28 member 3 gene DOID:630 genetic disease ISO RGD:731872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12147963 SLC28A3 solute carrier family 28 member 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621224 D RGD:9068941 20200609 RGD PMID:16014043|REF_RGD_ID:2317455 12147988 CIDEB cell death inducing DFFA like effector b gene DOID:0060439 lysinuric protein intolerance ISO RGD:1320650 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12147988 CIDEB cell death inducing DFFA like effector b gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1310000 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 12147988 CIDEB cell death inducing DFFA like effector b gene DOID:10787 premature menopause ISO RGD:1310000 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 12147988 CIDEB cell death inducing DFFA like effector b gene DOID:630 genetic disease ISO RGD:1320650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12147988 CIDEB cell death inducing DFFA like effector b gene DOID:9000265 Specific Granule Deficiency ISO RGD:1320650 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12147988 CIDEB cell death inducing DFFA like effector b gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1320650 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12147997 GPC2 glypican 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12147997 GPC2 glypican 2 gene DOID:630 genetic disease ISO RGD:731703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148011 YPEL4 yippee like 4 gene DOID:0080600 COVID-19 ISO RGD:1345149 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12148011 YPEL4 yippee like 4 gene DOID:1059 intellectual disability ISO RGD:1345149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12148011 YPEL4 yippee like 4 gene DOID:630 genetic disease ISO RGD:1345149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148023 NCCRP1 NCCRP1, F-box associated domain containing gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1602046 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12148023 NCCRP1 NCCRP1, F-box associated domain containing gene DOID:630 genetic disease ISO RGD:1602046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148023 NCCRP1 NCCRP1, F-box associated domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1602046 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12148033 ADIRF adipogenesis regulatory factor gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1348184 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 12148033 ADIRF adipogenesis regulatory factor gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1348184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 12148033 ADIRF adipogenesis regulatory factor gene DOID:630 genetic disease ISO RGD:1348184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148058 LOC100855886 keratin-associated protein 12-1-like gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1352453 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 12148058 LOC100855886 keratin-associated protein 12-1-like gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1352453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12148058 LOC100855886 keratin-associated protein 12-1-like gene DOID:0110266 cataract 9 multiple types ISO RGD:1352453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12148058 LOC100855886 keratin-associated protein 12-1-like gene DOID:12849 autistic disorder ISO RGD:1352453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12148058 LOC100855886 keratin-associated protein 12-1-like gene DOID:630 genetic disease ISO RGD:1352453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148058 LOC100855886 keratin-associated protein 12-1-like gene DOID:891 progressive myoclonus epilepsy ISO RGD:1352453 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12148058 LOC100855886 keratin-associated protein 12-1-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12148058 LOC100855886 keratin-associated protein 12-1-like gene DOID:9263 homocystinuria ISO RGD:1352453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12148058 LOC100855886 keratin-associated protein 12-1-like gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12148063 HOOK2 hook microtubule tethering protein 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1320916 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12148063 HOOK2 hook microtubule tethering protein 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1320916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12148063 HOOK2 hook microtubule tethering protein 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1320916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12148063 HOOK2 hook microtubule tethering protein 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1320916 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12148063 HOOK2 hook microtubule tethering protein 2 gene DOID:630 genetic disease ISO RGD:1320916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148091 MIR24-1 microRNA mir-24-1 gene DOID:1059 intellectual disability ISO RGD:1342757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12148091 MIR24-1 microRNA mir-24-1 gene DOID:13580 cholestasis ISO RGD:1342757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12148094 MIR490 microRNA mir-490 gene DOID:3770 pulmonary fibrosis ISO RGD:1603779 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:33482250 12148173 COX5B cytochrome c oxidase subunit 5B gene DOID:10763 hypertension ISO RGD:620608 D RGD:9068941 20200609 RGD protein:decreased expression:heart left ventricle PMID:16132109|REF_RGD_ID:2301377 12148173 COX5B cytochrome c oxidase subunit 5B gene DOID:630 genetic disease ISO RGD:734145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148173 COX5B cytochrome c oxidase subunit 5B gene DOID:9003936 Cardiomegaly ISO RGD:620608 D RGD:9068941 20200609 RGD associated with Hypertension PMID:16132109|REF_RGD_ID:2301377 12148173 COX5B cytochrome c oxidase subunit 5B gene DOID:9007102 Myocardial Ischemia ISO RGD:734145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12148187 ANKIB1 ankyrin repeat and IBR domain containing 1 gene DOID:0060669 cerebral cavernous malformation ISO RGD:1316285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation PMID:25741868 12148187 ANKIB1 ankyrin repeat and IBR domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:1316285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12148187 ANKIB1 ankyrin repeat and IBR domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12148187 ANKIB1 ankyrin repeat and IBR domain containing 1 gene DOID:630 genetic disease ISO RGD:1316285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148187 ANKIB1 ankyrin repeat and IBR domain containing 1 gene DOID:9000043 Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas ISO RGD:1316285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas PMID:25741868 12148228 SLC25A21 solute carrier family 25 member 21 gene DOID:0050591 tooth agenesis ISO RGD:1350119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tooth agenesis PMID:25741868 12148228 SLC25A21 solute carrier family 25 member 21 gene DOID:12859 choreatic disease ISO RGD:1350119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign hereditary chorea PMID:11971878 12148228 SLC25A21 solute carrier family 25 member 21 gene DOID:13714 anodontia ISO RGD:1350119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Partial congenital absence of teeth PMID:11827258|PMID:28492532 12148228 SLC25A21 solute carrier family 25 member 21 gene DOID:630 genetic disease ISO RGD:1350119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12148228 SLC25A21 solute carrier family 25 member 21 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350119 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12148228 SLC25A21 solute carrier family 25 member 21 gene DOID:9006116 Mitochondrial DNA Depletion Syndrome 18 ISO RGD:1350119 D RGD:7240710 20200408 OMIM 12148228 SLC25A21 solute carrier family 25 member 21 gene DOID:9006116 Mitochondrial DNA Depletion Syndrome 18 ISO RGD:1350119 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 18 PMID:25741868|PMID:28492532|PMID:29517768 12148252 ASB16 ankyrin repeat and SOCS box containing 16 gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1313384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 12148252 ASB16 ankyrin repeat and SOCS box containing 16 gene DOID:630 genetic disease ISO RGD:1313384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148263 LOC100684414 zinc finger protein 780A-like gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1602429 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12148263 LOC100684414 zinc finger protein 780A-like gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12148263 LOC100684414 zinc finger protein 780A-like gene DOID:1342 congenital hypoplastic anemia ISO RGD:1602429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12148263 LOC100684414 zinc finger protein 780A-like gene DOID:2340 craniosynostosis ISO RGD:1602429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12148263 LOC100684414 zinc finger protein 780A-like gene DOID:630 genetic disease ISO RGD:1602429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148263 LOC100684414 zinc finger protein 780A-like gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1602429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12148263 LOC100684414 zinc finger protein 780A-like gene DOID:9269 maple syrup urine disease ISO RGD:1602429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12148263 LOC100684414 zinc finger protein 780A-like gene DOID:9352 type 2 diabetes mellitus ISO RGD:1602429 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12148274 VMAC vimentin type intermediate filament associated coiled-coil protein gene DOID:630 genetic disease ISO RGD:1606370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148336 CNBP CCHC-type zinc finger nucleic acid binding protein gene DOID:0050759 myotonic dystrophy type 2 ISO RGD:733498 D RGD:7240710 20190315 OMIM 12148336 CNBP CCHC-type zinc finger nucleic acid binding protein gene DOID:0050759 myotonic dystrophy type 2 ISO RGD:733498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myotonic dystrophy type 2 PMID:25741868 12148336 CNBP CCHC-type zinc finger nucleic acid binding protein gene DOID:0111947 immunodeficiency 21 ISO RGD:733498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:28492532 12148336 CNBP CCHC-type zinc finger nucleic acid binding protein gene DOID:450 myotonic disease ISO RGD:733498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12148336 CNBP CCHC-type zinc finger nucleic acid binding protein gene DOID:630 genetic disease ISO RGD:733498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148336 CNBP CCHC-type zinc finger nucleic acid binding protein gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:733498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 12148336 CNBP CCHC-type zinc finger nucleic acid binding protein gene DOID:9270 alkaptonuria ISO RGD:733498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12148358 PTPN1 protein tyrosine phosphatase non-receptor type 1 gene DOID:10763 hypertension ISO RGD:1343639 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28899902 12148358 PTPN1 protein tyrosine phosphatase non-receptor type 1 gene DOID:1206 Rett syndrome ISO RGD:1343639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26214522 12148358 PTPN1 protein tyrosine phosphatase non-receptor type 1 gene DOID:2018 hyperinsulinism ISO RGD:1343639 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28899902 12148358 PTPN1 protein tyrosine phosphatase non-receptor type 1 gene DOID:630 genetic disease ISO RGD:1343639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148358 PTPN1 protein tyrosine phosphatase non-receptor type 1 gene DOID:707 B-cell lymphoma ISO RGD:1343639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24531327 12148358 PTPN1 protein tyrosine phosphatase non-receptor type 1 gene DOID:8567 Hodgkin's lymphoma ISO RGD:1343639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24531327 12148358 PTPN1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26739621 12148358 PTPN1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9005372 Inflammation ISO RGD:1343639 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28899902 12148358 PTPN1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9007692 Insulin Resistance ISO RGD:1343639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Insulin resistance, susceptibility to PMID:11833006 12148358 PTPN1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9008299 Mediastinal Neoplasms ISO RGD:1343639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24531327 12148358 PTPN1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343639 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 12148358 PTPN1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1343639 D RGD:7240710 20230505 OMIM 12148358 PTPN1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9970 obesity ISO RGD:1343639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10744717|PMID:20075852 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:0050127 sinusitis ISO RGD:732227 D RGD:9068941 20200609 RGD PMID:18396779|REF_RGD_ID:4892328 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:732227 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lymphoid tissue: PMID:15611350|REF_RGD_ID:4892608 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:0060224 atrial fibrillation ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:0080162 lupus nephritis ISO RGD:10691 D RGD:9068941 20200609 RGD PMID:21509671|REF_RGD_ID:7174713 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:0080162 lupus nephritis ISO RGD:732227 D RGD:9068941 20200609 RGD PMID:17880936|REF_RGD_ID:7174734 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:732227 D RGD:9068941 20200609 RGD mRNA:alternative form:blood, mononuclear cell PMID:20419394|REF_RGD_ID:7174729 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732227 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:10283 prostate cancer ISO RGD:732227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:10763 hypertension ISO RGD:10691 D RGD:9068941 20200609 RGD PMID:20659135|REF_RGD_ID:7174714 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:10763 hypertension ISO RGD:2741 D RGD:9068941 20200609 RGD associated with fetal nutrition disorder PMID:20674672|REF_RGD_ID:4892208 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:10763 hypertension ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18434569|PMID:20659135 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:10966 lipoid nephrosis disease_progression ISO RGD:732227 D RGD:9068941 20200609 RGD PMID:17890747|REF_RGD_ID:7174718 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:2741 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:22176470|REF_RGD_ID:7174741 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:11832 visual epilepsy ISO RGD:2741 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:20113635|REF_RGD_ID:4892123 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:1184 nephrotic syndrome treatment ISO RGD:732227 D RGD:9068941 20200609 RGD PMID:15833166|REF_RGD_ID:7174719 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:12236 primary biliary cholangitis ISO RGD:732227 D RGD:9068941 20200609 RGD mRNA:altered expression:leukocyte, mononuclear PMID:15635817|REF_RGD_ID:4892607 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:13141 uveitis ISO RGD:2741 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:ciliary body, iris PMID:23152847|REF_RGD_ID:7174735 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:13141 uveitis ISO RGD:2741 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina (rat) PMID:21724913|REF_RGD_ID:5490118 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:13406 pulmonary sarcoidosis ISO RGD:732227 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:2255800|REF_RGD_ID:4892566 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:1470 major depressive disorder ISO RGD:732227 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS2+646C>G (human) PMID:18246526|REF_RGD_ID:7174717 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:1596 depressive disorder ISO RGD:2741 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus (rat) PMID:21837980|REF_RGD_ID:5686290 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:1596 depressive disorder ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:1824 status epilepticus ISO RGD:2741 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:22050960|REF_RGD_ID:5686281 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:2055 post-traumatic stress disorder ISO RGD:2741 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:locus coeruleus (rat) PMID:21584742|REF_RGD_ID:5686336 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:2316 brain ischemia ISO RGD:2741 D RGD:9068941 20200609 RGD protein:decreased expression:brain cortex PMID:17344647|REF_RGD_ID:4892115 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:2320 obstructive lung disease ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9926163 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:2468 psychotic disorder ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:2841 asthma ISO RGD:732227 D RGD:9068941 20200609 RGD PMID:15295049|PMID:18396779|REF_RGD_ID:4892328|REF_RGD_ID:4892609 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:2841 asthma severity ISO RGD:732227 D RGD:9068941 20200609 RGD protein:increased expression, decreased activity:leukocyte, mononuclear PMID:18799869|REF_RGD_ID:4892594 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:2841 asthma susceptibility ISO RGD:732227 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:21113676|REF_RGD_ID:4892568 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:2841 asthma treatment ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:20727335|REF_RGD_ID:7174728 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:289 endometriosis ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:3082 interstitial lung disease disease_progression ISO RGD:732227 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:4028852|REF_RGD_ID:4892567 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732227 D RGD:9068941 20200609 RGD PMID:9926163|REF_RGD_ID:4892564 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732227 D RGD:9068941 20200609 RGD protein:decreased expression:lung, lymphocyte PMID:20450542|REF_RGD_ID:4892318 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:3312 bipolar disorder ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:3324 mood disorder ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29921868 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:3393 coronary artery disease ISO RGD:732227 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.N363S (human) PMID:12623935|REF_RGD_ID:1580790 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732227 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:16806572|REF_RGD_ID:4892333 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:4194 glucose metabolism disease ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29802709 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:4450 renal cell carcinoma severity ISO RGD:732227 D RGD:9068941 20200609 RGD PMID:21531004|REF_RGD_ID:7174727 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:4450 renal cell carcinoma treatment ISO RGD:732227 D RGD:9068941 20200609 RGD PMID:18181043|REF_RGD_ID:7174733 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:446 primary hyperaldosteronism ISO RGD:10691 D RGD:9068941 20220825 MouseDO OMIM:605635 | OMIM:613677 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:4500 hypokalemia ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11932321 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:5419 schizophrenia ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030|PMID:21647420 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:6000 congestive heart failure treatment ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:21737535|REF_RGD_ID:7174712 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:630 genetic disease ISO RGD:732227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:7148 rheumatoid arthritis ISO RGD:2741 D RGD:9068941 20200609 RGD mRNA:increased expression:paw PMID:18448865|REF_RGD_ID:4892311 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:767 muscular atrophy ISO RGD:2741 D RGD:9068941 20200609 RGD protein:altered expression:nucleus PMID:17622304|REF_RGD_ID:4892297 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:783 end stage renal disease ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:18591458|REF_RGD_ID:7174716 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:83 cataract ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:12714641|REF_RGD_ID:4892118 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:850 lung disease ISO RGD:2741 D RGD:9068941 20200609 RGD Acute lung injury;protein:increased expression:lung PMID:17467318|REF_RGD_ID:4892201 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:850 lung disease disease_progression ISO RGD:732227 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:polymorphism:intron PMID:18047640|REF_RGD_ID:4892330 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:8689 anorexia nervosa ISO RGD:732227 D RGD:9068941 20200609 RGD protein:decreased activity:blood, mononuclear leukocyte PMID:10356629|REF_RGD_ID:7174723 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9000121 Malocclusion ISO RGD:2741 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:21751079|REF_RGD_ID:5686299 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9000197 Edema ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:19396522|REF_RGD_ID:4892316 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:20388836|REF_RGD_ID:4892120 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2741 D RGD:9068941 20200609 RGD associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney PMID:17272666|REF_RGD_ID:2308941 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10691 D RGD:9068941 20200609 RGD PMID:17322387|REF_RGD_ID:4892331 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:732227 D RGD:9068941 20200609 RGD protein:altered expression:nasal mucosa PMID:20185258|REF_RGD_ID:4892593 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9004283 Transplant Rejection ISO RGD:732227 D RGD:9068941 20200609 RGD protein:decreased activity:blood, mononuclear cell PMID:10959477|REF_RGD_ID:7174721 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9004484 Sepsis ISO RGD:10691 D RGD:9068941 20200609 RGD protein:decreased expression:alveolar macrophage PMID:21057058|REF_RGD_ID:4892317 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9004484 Sepsis treatment ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:21787473|REF_RGD_ID:7174711 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9005158 Cushing Syndrome ISO RGD:10691 D RGD:9068941 20200609 RGD PMID:10471508|PMID:19635986|REF_RGD_ID:7174715|REF_RGD_ID:7174722 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9005158 Cushing Syndrome ISO RGD:732227 D RGD:9068941 20200609 RGD protein:decreased activity:blood, mononuclear leukocyte PMID:10356629|REF_RGD_ID:7174723 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12805318|PMID:19234455 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2741 D RGD:9068941 20200609 RGD protein:increased expression:placenta PMID:21744335|REF_RGD_ID:12879479 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9005851 46, XX Disorders of Sex Development ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11932321 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9005930 Endotoxemia ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:15640646|REF_RGD_ID:4892561 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29802709 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732227 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9007096 Stroke ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:20858282|REF_RGD_ID:4892205 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9007730 Burns ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:11990926|REF_RGD_ID:7174720 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9007730 Burns treatment ISO RGD:2741 D RGD:9068941 20200609 RGD protein:decreased activity:liver, lung, kidney PMID:19216853|REF_RGD_ID:4892319 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9008669 Glucocorticoid Receptor Deficiency ISO RGD:732227 D RGD:7240710 20180130 OMIM 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9008669 Glucocorticoid Receptor Deficiency ISO RGD:732227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucocorticoid resistance | ClinVar Annotator: match by term: Glucocorticoid resistance, cellular | ClinVar Annotator: match by term: Glucocorticoid resistance, relative | ClinVar Annotator: match by term: Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance PMID:11344238|PMID:11589680|PMID:11701741|PMID:11932321|PMID:12351458|PMID:14715855|PMID:15276593|PMID:15292341|PMID:15497438|PMID:16030164|PMID:16449337|PMID:16636127|PMID:1704018|PMID:17535992|PMID:17848410|PMID:186477|PMID:18854398|PMID:19435830|PMID:21912096|PMID:22445700|PMID:25741868|PMID:28492532|PMID:2996089|PMID:6282933|PMID:6841559|PMID:8316249|PMID:8445027|PMID:9150737|PMID:9435432 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9282 ocular hypertension ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17563720 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:17292727|REF_RGD_ID:4892117 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9970 obesity ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:20723946|REF_RGD_ID:4892206 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9970 obesity ISO RGD:732227 D RGD:9068941 20200609 RGD associated with Depressive Disorder, Major;DNA:SNP:intron:IVS2+646C>G (human) PMID:18246526|REF_RGD_ID:7174717 12148382 NR3C1 nuclear receptor subfamily 3 group C member 1 gene DOID:9970 obesity no_association ISO RGD:732227 D RGD:9068941 20200609 RGD protein:polymorphism:N363S PMID:16725041|REF_RGD_ID:1601498 12148415 PMFBP1 polyamine modulated factor 1 binding protein 1 gene DOID:0111922 spermatogenic failure 31 ISO RGD:1345041 D RGD:7240710 20190315 OMIM 12148415 PMFBP1 polyamine modulated factor 1 binding protein 1 gene DOID:0111922 spermatogenic failure 31 ISO RGD:1345041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 31 PMID:25741868|PMID:30032984|PMID:30298696 12148415 PMFBP1 polyamine modulated factor 1 binding protein 1 gene DOID:12336 male infertility ISO RGD:732904 D RGD:9068941 20220825 MouseDO 12148415 PMFBP1 polyamine modulated factor 1 binding protein 1 gene DOID:630 genetic disease ISO RGD:1345041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148449 GARIN2 golgi associated RAB2 interactor family member 2 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1353197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 12148449 GARIN2 golgi associated RAB2 interactor family member 2 gene DOID:630 genetic disease ISO RGD:1353197 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148464 PQBP1 polyglutamine binding protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1604644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12148464 PQBP1 polyglutamine binding protein 1 gene DOID:0060179 Renpenning syndrome ISO RGD:1604644 D RGD:7240710 20180130 OMIM 12148464 PQBP1 polyglutamine binding protein 1 gene DOID:0060179 Renpenning syndrome ISO RGD:1604644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renpenning syndrome PMID:13981686|PMID:14634649|PMID:15024694|PMID:15355434|PMID:15782410|PMID:16199547|PMID:16493439|PMID:16740914|PMID:20410308|PMID:20950397|PMID:21267006|PMID:21315190|PMID:21836667|PMID:24088041|PMID:24781215|PMID:25326635|PMID:25741868|PMID:26350204|PMID:26467025|PMID:26633545|PMID:28492532|PMID:30143497|PMID:31230720|PMID:32041777|PMID:32903913|PMID:33668121|PMID:34470565|PMID:6711604|PMID:9545405 12148464 PQBP1 polyglutamine binding protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12148464 PQBP1 polyglutamine binding protein 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1604644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12148464 PQBP1 polyglutamine binding protein 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1604644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12148464 PQBP1 polyglutamine binding protein 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1604644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12148464 PQBP1 polyglutamine binding protein 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1604644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12148464 PQBP1 polyglutamine binding protein 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1604644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12148464 PQBP1 polyglutamine binding protein 1 gene DOID:1059 intellectual disability ISO RGD:1604644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild PMID:25167861|PMID:25741868|PMID:28492532 12148464 PQBP1 polyglutamine binding protein 1 gene DOID:10907 microcephaly ISO RGD:1604644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14634649|PMID:15024694|PMID:16740914 12148464 PQBP1 polyglutamine binding protein 1 gene DOID:12849 autistic disorder ISO RGD:1604644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12148464 PQBP1 polyglutamine binding protein 1 gene DOID:1882 atrial heart septal defect ISO RGD:1604644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16740914 12148464 PQBP1 polyglutamine binding protein 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1604644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14634649 12148464 PQBP1 polyglutamine binding protein 1 gene DOID:630 genetic disease ISO RGD:1604644 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21267006|PMID:24781215|PMID:25741868|PMID:28492532|PMID:30143497|PMID:31230720|PMID:33668121 12148464 PQBP1 polyglutamine binding protein 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1604644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14634649|PMID:15024694 12148464 PQBP1 polyglutamine binding protein 1 gene DOID:9006257 Growth Disorders ISO RGD:1604644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14634649|PMID:16740914 12148488 KIAA0930 KIAA0930 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1312287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12148488 KIAA0930 KIAA0930 gene DOID:0080600 COVID-19 ISO RGD:1312287 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12148488 KIAA0930 KIAA0930 gene DOID:1059 intellectual disability ISO RGD:1312287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12148488 KIAA0930 KIAA0930 gene DOID:630 genetic disease ISO RGD:1312287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148511 RHAG Rh associated glycoprotein gene DOID:0050641 Rh deficiency syndrome ISO RGD:731598 D RGD:7240710 20180130 OMIM 12148511 RHAG Rh associated glycoprotein gene DOID:0050641 Rh deficiency syndrome ISO RGD:731598 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rh-null, regulator type PMID:10467273|PMID:25741868|PMID:28492532|PMID:8563755|PMID:9442063|PMID:9454778|PMID:9746795|PMID:9915949 12148511 RHAG Rh associated glycoprotein gene DOID:0111562 overhydrated hereditary stomatocytosis ISO RGD:731598 D RGD:7240710 20180130 OMIM 12148511 RHAG Rh associated glycoprotein gene DOID:0111562 overhydrated hereditary stomatocytosis ISO RGD:731598 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Overhydrated hereditary stomatocytosis PMID:1174702|PMID:13762977|PMID:15180870|PMID:18931342|PMID:21849667|PMID:22012326|PMID:23406318|PMID:25741868|PMID:2765409|PMID:2917122|PMID:6018468 12148511 RHAG Rh associated glycoprotein gene DOID:583 hemolytic anemia ISO RGD:731598 D RGD:9068941 20200609 RGD Rh(null) syndrome, OMIM:180297 PMID:10467273|REF_RGD_ID:1599622 12148511 RHAG Rh associated glycoprotein gene DOID:630 genetic disease ISO RGD:731598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12148525 DNALI1 dynein axonemal light intermediate chain 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12148525 DNALI1 dynein axonemal light intermediate chain 1 gene DOID:630 genetic disease ISO RGD:1319504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148525 DNALI1 dynein axonemal light intermediate chain 1 gene DOID:9002373 Spermatogenic Failure 83 ISO RGD:1319504 D RGD:7240710 20230505 OMIM 12148534 FAAH fatty acid amide hydrolase gene DOID:0060001 withdrawal disorder ISO RGD:737052 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18705688|PMID:19002671 12148534 FAAH fatty acid amide hydrolase gene DOID:12858 Huntington's disease ISO RGD:737052 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20929960 12148534 FAAH fatty acid amide hydrolase gene DOID:303 substance-related disorder ISO RGD:737052 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polysubstance abuse, susceptibility to PMID:12060782|PMID:15254019|PMID:16972078|PMID:23556448|PMID:25741868 12148534 FAAH fatty acid amide hydrolase gene DOID:303 substance-related disorder susceptibility ISO RGD:737052 D RGD:7240710 20190502 OMIM 12148534 FAAH fatty acid amide hydrolase gene DOID:630 genetic disease ISO RGD:737052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148534 FAAH fatty acid amide hydrolase gene DOID:9004702 Pregnancy Complications ISO RGD:737052 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16886060 12148534 FAAH fatty acid amide hydrolase gene DOID:9970 obesity ISO RGD:737052 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19103437|PMID:20716455 12148534 FAAH fatty acid amide hydrolase gene DOID:9970 obesity ISO RGD:737052 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15809662|REF_RGD_ID:1625726 12148534 FAAH fatty acid amide hydrolase gene DOID:9974 drug dependence ISO RGD:737052 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Drug addiction, susceptibility to PMID:12060782|PMID:15254019|PMID:16972078|PMID:23556448|PMID:25741868 12148553 PDIA4 protein disulfide isomerase family A member 4 gene DOID:630 genetic disease ISO RGD:1605716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148567 ZNF467 zinc finger protein 467 gene DOID:630 genetic disease ISO RGD:1350118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148590 TRMT61B tRNA methyltransferase 61B gene DOID:630 genetic disease ISO RGD:1602887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148605 PAX6 paired box 6 gene DOID:0060282 persistent hyperplastic primary vitreous ISO RGD:11059 D RGD:9068941 20210115 RGD DNA:snp:cds:pN64K (mouse) PMID:19345209|REF_RGD_ID:8551891 12148605 PAX6 paired box 6 gene DOID:0060648 anterior segment dysgenesis ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:24281366|PMID:32499604 12148605 PAX6 paired box 6 gene DOID:0060673 Peters anomaly ISO RGD:737459 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:12552561|PMID:12634864|PMID:12721955|PMID:12868034|PMID:15086958|PMID:17417613|PMID:18776953|PMID:24281366|PMID:25741868|PMID:26604670|PMID:28488383|PMID:28492532|PMID:31161946|PMID:32499604|PMID:9727514 12148605 PAX6 paired box 6 gene DOID:0080610 anterior segment dysgenesis 5 ISO RGD:737459 D RGD:7240710 20210113 OMIM 12148605 PAX6 paired box 6 gene DOID:0080610 anterior segment dysgenesis 5 ISO RGD:737459 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 | ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES | ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE PMID:10441571|PMID:1251879|PMID:12634864|PMID:12721955|PMID:12868034|PMID:14561779|PMID:15086958|PMID:1684738|PMID:17417613|PMID:18776953|PMID:1954207|PMID:25741868|PMID:26604670|PMID:28488383|PMID:28492532|PMID:31161946|PMID:6988567|PMID:9727514 12148605 PAX6 paired box 6 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:737459 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:14630904 12148605 PAX6 paired box 6 gene DOID:0110233 cataract 27 ISO RGD:737459 D RGD:9068941 20210115 RGD associated with Cataract;DNA:nonsense mutation:cds:p.R103X (human) PMID:22393272|REF_RGD_ID:8552277 12148605 PAX6 paired box 6 gene DOID:0111383 autosomal dominant keratitis ISO RGD:737459 D RGD:7240710 20210113 OMIM 12148605 PAX6 paired box 6 gene DOID:0111383 autosomal dominant keratitis ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant keratitis | ClinVar Annotator: match by term: Dominantly inherited keratitis | ClinVar Annotator: match by term: Keratitis, hereditary PMID:12868034|PMID:15086958|PMID:16407227|PMID:17417613|PMID:18776953|PMID:25741868|PMID:26604670|PMID:28492532|PMID:31161946|PMID:7627897|PMID:7668281|PMID:9727514 12148605 PAX6 paired box 6 gene DOID:0111531 bilateral optic nerve hypoplasia ISO RGD:737459 D RGD:7240710 20210113 OMIM 12148605 PAX6 paired box 6 gene DOID:0111531 bilateral optic nerve hypoplasia ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Optic nerve hypoplasia, bilateral PMID:12634864|PMID:12721955|PMID:25741868|PMID:28488383|PMID:28492532 12148605 PAX6 paired box 6 gene DOID:0111578 Gillespie syndrome ISO RGD:737459 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gillespie syndrome PMID:25741868|PMID:26899008 12148605 PAX6 paired box 6 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:12868034|PMID:15086958|PMID:16407227|PMID:17417613|PMID:18776953|PMID:25741868|PMID:26893459|PMID:28492532|PMID:9727514 12148605 PAX6 paired box 6 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:737459 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:12868034|PMID:15086958|PMID:16407227|PMID:17417613|PMID:18776953|PMID:25741868|PMID:26604670|PMID:26893459|PMID:28492532|PMID:9727514 12148605 PAX6 paired box 6 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:12868034|PMID:15086958|PMID:16407227|PMID:17417613|PMID:18776953|PMID:25741868|PMID:26604670|PMID:26893459|PMID:28492532|PMID:31161946|PMID:9727514 12148605 PAX6 paired box 6 gene DOID:1059 intellectual disability ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12148605 PAX6 paired box 6 gene DOID:10603 glucose intolerance ISO RGD:737459 D RGD:9068941 20210115 RGD associated with Aniridia;DNA:nonsense mutation:cds:p.R240X (human) PMID:19034419|REF_RGD_ID:2308929 12148605 PAX6 paired box 6 gene DOID:10629 microphthalmia ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia PMID:12868034|PMID:15086958|PMID:16407227|PMID:17417613|PMID:18776953|PMID:25741868|PMID:28492532|PMID:29178648|PMID:9727514 12148605 PAX6 paired box 6 gene DOID:10629 microphthalmia ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar Annotator: match by term: Microphthalmia PMID:12868034|PMID:15086958|PMID:16407227|PMID:17417613|PMID:18776953|PMID:25741868|PMID:26604670|PMID:28492532|PMID:29178648|PMID:31161946|PMID:9727514 12148605 PAX6 paired box 6 gene DOID:1068 juvenile glaucoma ISO RGD:11059 D RGD:9068941 20220825 MouseDO 12148605 PAX6 paired box 6 gene DOID:11975 coloboma of optic nerve ISO RGD:737459 D RGD:7240710 20210113 OMIM 12148605 PAX6 paired box 6 gene DOID:11975 coloboma of optic nerve ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coloboma of optic nerve PMID:12721955|PMID:25741868|PMID:28492532 12148605 PAX6 paired box 6 gene DOID:12270 coloboma ISO RGD:737459 D RGD:7240710 20210113 OMIM 12148605 PAX6 paired box 6 gene DOID:12270 coloboma ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coloboma, ocular, autosomal dominant | ClinVar Annotator: match by term: Congenital ocular coloboma PMID:12721955|PMID:25741868 12148605 PAX6 paired box 6 gene DOID:12271 aniridia ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aniridia, atypical | ClinVar Annotator: match by term: Congenital aniridia PMID:14744876|PMID:17417613|PMID:18776953|PMID:25741868|PMID:27013732|PMID:28492532|PMID:9931324 12148605 PAX6 paired box 6 gene DOID:12271 aniridia susceptibility ISO RGD:737459 D RGD:9068941 20210115 RGD DNA:deletion, snp:cds:p.R38GfsX16, p.S121L (human) PMID:23734086|REF_RGD_ID:8551856 12148605 PAX6 paired box 6 gene DOID:12271 aniridia susceptibility ISO RGD:737459 D RGD:9068941 20210115 RGD DNA:deletion:cds:p.Q297HfsX68 (human) PMID:22171157|REF_RGD_ID:8551859 12148605 PAX6 paired box 6 gene DOID:12271 aniridia susceptibility ISO RGD:737459 D RGD:9068941 20210115 RGD DNA:deletion:cds:p.R38PfsX12 (human) PMID:20664694|REF_RGD_ID:8551858 12148605 PAX6 paired box 6 gene DOID:12271 aniridia susceptibility ISO RGD:737459 D RGD:9068941 20210115 RGD DNA:nonsense mutation:cds:p.R240X (human) PMID:22815628|REF_RGD_ID:8551860 12148605 PAX6 paired box 6 gene DOID:1229 paranoid schizophrenia ISO RGD:737459 D RGD:9068941 20210115 RGD DNA:repeats:promoter: (human) PMID:10376119|REF_RGD_ID:1358554 12148605 PAX6 paired box 6 gene DOID:12849 autistic disorder ISO RGD:3258 D RGD:9068941 20210115 RGD PMID:21203536|REF_RGD_ID:8552339 12148605 PAX6 paired box 6 gene DOID:12849 autistic disorder ISO RGD:737459 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:18322702 12148605 PAX6 paired box 6 gene DOID:14515 WAGR syndrome ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome PMID:12868034|PMID:15086958|PMID:17417613|PMID:18776953|PMID:25741868|PMID:26604670|PMID:28492532|PMID:31161946|PMID:9727514 12148605 PAX6 paired box 6 gene DOID:14692 Smith-Lemli-Opitz syndrome ISO RGD:3258 D RGD:9068941 20210115 RGD protein:altered expression:embryo, forebrain, hindbrain (rat) PMID:10564872|REF_RGD_ID:8552380 12148605 PAX6 paired box 6 gene DOID:1891 optic nerve disease ISO RGD:737459 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:12721955 12148605 PAX6 paired box 6 gene DOID:1909 melanoma ISO RGD:737459 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 12148605 PAX6 paired box 6 gene DOID:224 transient cerebral ischemia ISO RGD:3258 D RGD:9068941 20210115 RGD protein:increased expression:cerebral cortex, striatum, astroglial cell (rat) PMID:24114637|REF_RGD_ID:8552354 12148605 PAX6 paired box 6 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737459 D RGD:9068941 20210115 RGD protein:increased expression:pancreatic duct (human) PMID:17849422|REF_RGD_ID:8552381 12148605 PAX6 paired box 6 gene DOID:3764 Denys-Drash syndrome ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Drash syndrome PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28492532 12148605 PAX6 paired box 6 gene DOID:630 genetic disease ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12634864|PMID:25741868|PMID:28321846|PMID:28492532|PMID:28760551|PMID:32360764|PMID:34065151 12148605 PAX6 paired box 6 gene DOID:83 cataract ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:26694549|PMID:29178648 12148605 PAX6 paired box 6 gene DOID:9000217 Stomach Neoplasms ISO RGD:737459 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12148605 PAX6 paired box 6 gene DOID:9001098 Optic Nerve Aplasia, Bilateral ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic nerve aplasia, bilateral PMID:12721955 12148605 PAX6 paired box 6 gene DOID:9001575 IRIS COLOBOMA ISO RGD:737459 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Iris coloboma PMID:25741868 12148605 PAX6 paired box 6 gene DOID:9002049 Anophthalmia ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia 12148605 PAX6 paired box 6 gene DOID:9002189 High Myopia susceptibility ISO RGD:737459 D RGD:9068941 20210115 RGD DNA:snp, haplotype:3' utr:c.*2160G>A (rs12421026) (human) PMID:21589860|REF_RGD_ID:8552263 12148605 PAX6 paired box 6 gene DOID:9002189 High Myopia susceptibility ISO RGD:737459 D RGD:9068941 20210115 RGD DNA:snp:intron:IVS11+393C>A (rs644242) (human) PMID:23213273|REF_RGD_ID:8552307 12148605 PAX6 paired box 6 gene DOID:9002189 High Myopia susceptibility ISO RGD:737459 D RGD:9068941 20210115 RGD DNA:snps:intron:IVS13+43T>G, IVS13-1101A>G (rs3026393, rs3026390) (human) PMID:19124844|REF_RGD_ID:8552290 12148605 PAX6 paired box 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737459 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12148605 PAX6 paired box 6 gene DOID:9002455 Aniridia 1 ISO RGD:737459 D RGD:7240710 20210113 OMIM 12148605 PAX6 paired box 6 gene DOID:9002455 Aniridia 1 ISO RGD:737459 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aniridia 1 | ClinVar Annotator: match by term: Cataracts, congenital, with late-onset corneal dystrophy PMID:10234503|PMID:10477494|PMID:10694925|PMID:10737978|PMID:10887930|PMID:11284764|PMID:11309364|PMID:11431688|PMID:11479730|PMID:11553050|PMID:11826019|PMID:12015275|PMID:12388550|PMID:1251879|PMID:12552561|PMID:12634864|PMID:12721955|PMID:12731001|PMID:12782766|PMID:12868034|PMID:1302030|PMID:1345175|PMID:14561779|PMID:14744876|PMID:15020706|PMID:15086958|PMID:15150775|PMID:15579687|PMID:15846561|PMID:15889018|PMID:16098226|PMID:16199547|PMID:16493447|PMID:16617299|PMID:16712695|PMID:16785853|PMID:1684738|PMID:17148041|PMID:17406642|PMID:17417613|PMID:17568989|PMID:17576681|PMID:17595013|PMID:17630404|PMID:18241071|PMID:18332330|PMID:18483559|PMID:18776953|PMID:19218613|PMID:1954207|PMID:19862335|PMID:19876904|PMID:19898691|PMID:20054790|PMID:20577777|PMID:2080308|PMID:21397818|PMID:21423868|PMID:21848007|PMID:21850189|PMID:22171686|PMID:22361317|PMID:22393275|PMID:22509105|PMID:22692063|PMID:22893676|PMID:23404109|PMID:23517654|PMID:23734086|PMID:23761016|PMID:23942204|PMID:24138039|PMID:24266705|PMID:24390526|PMID:24623969|PMID:24737507|PMID:25678763|PMID:25741868|PMID:26535646|PMID:26604670|PMID:26661695|PMID:26694549|PMID:26849621|PMID:27013732|PMID:27081502|PMID:27081561|PMID:27124303|PMID:27307692|PMID:27431685|PMID:27455012|PMID:27463523|PMID:27878435|PMID:28231309|PMID:28321846|PMID:28488383|PMID:28492532|PMID:28559085|PMID:29145603|PMID:29217025|PMID:29618921|PMID:29780932|PMID:29914532|PMID:30167917|PMID:30291432|PMID:30315214|PMID:30986449|PMID:31161946|PMID:31700164|PMID:32080308|PMID:32360764|PMID:32467297|PMID:32860008|PMID:33169869|PMID:34101622|PMID:34174135|PMID:34415986|PMID:6988567|PMID:7550230|PMID:7666404|PMID:7951315|PMID:8111279|PMID:8111379|PMID:8364574|PMID:8640214|PMID:8689689|PMID:9138149|PMID:9279758|PMID:9281415|PMID:9452088|PMID:9482572|PMID:9536098|PMID:9727514|PMID:9792406|PMID:9931324 12148605 PAX6 paired box 6 gene DOID:9003088 O'Donnell Pappas Syndrome ISO RGD:737459 D RGD:7240710 20210113 OMIM 12148605 PAX6 paired box 6 gene DOID:9003088 O'Donnell Pappas Syndrome ISO RGD:737459 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia 1 with or without anterior segment anomalies | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome PMID:10441571|PMID:12868034|PMID:14744876|PMID:15086958|PMID:15629294|PMID:16407227|PMID:17417613|PMID:18332330|PMID:18776953|PMID:22361317|PMID:23404109|PMID:25741868|PMID:26604670|PMID:27013732|PMID:28492532|PMID:32360764|PMID:8364574|PMID:8640214|PMID:9727514|PMID:9931324 12148605 PAX6 paired box 6 gene DOID:9003088 O'Donnell Pappas Syndrome ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia 1 with cataract | ClinVar Annotator: match by term: Foveal hypoplasia 1 with or without anterior segment anomalies | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome PMID:10234503|PMID:10441571|PMID:12868034|PMID:14744876|PMID:15086958|PMID:15629294|PMID:16407227|PMID:17417613|PMID:18332330|PMID:18776953|PMID:22361317|PMID:23404109|PMID:25741868|PMID:26604670|PMID:27013732|PMID:28492532|PMID:31161946|PMID:32360764|PMID:8364574|PMID:8640214|PMID:9727514|PMID:9931324 12148605 PAX6 paired box 6 gene DOID:9003133 Hypertelorism ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:11309364|PMID:11431688|PMID:12552561|PMID:12731001|PMID:16098226|PMID:25741868|PMID:27431685|PMID:28321846|PMID:28492532|PMID:29618921 12148605 PAX6 paired box 6 gene DOID:9003775 Chromosome 11p Deletion Syndrome ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 11p deletion syndrome PMID:12868034|PMID:15086958|PMID:17417613|PMID:18776953|PMID:25741868|PMID:26604670|PMID:28492532|PMID:31161946|PMID:9727514 12148605 PAX6 paired box 6 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737459 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 12148605 PAX6 paired box 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737459 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12148605 PAX6 paired box 6 gene DOID:9006534 Nervous System Malformations ISO RGD:737459 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:19329571 12148605 PAX6 paired box 6 gene DOID:9008091 Optic Nerve Injuries ISO RGD:3258 D RGD:9068941 20210115 RGD protein:increased expression:retina (rat) PMID:23297010|REF_RGD_ID:8552379 12148605 PAX6 paired box 6 gene DOID:9008296 Eye Abnormalities ISO RGD:3258 D RGD:9068941 20210115 RGD PMID:9247338|REF_RGD_ID:731242 12148605 PAX6 paired box 6 gene DOID:9008296 Eye Abnormalities ISO RGD:737459 D RGD:9068941 20210115 RGD PMID:10441571|PMID:12721955|REF_RGD_ID:1601210|REF_RGD_ID:1601211 12148605 PAX6 paired box 6 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:737459 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:7559133|PMID:9079035|PMID:9363853 12148605 PAX6 paired box 6 gene DOID:9009007 Tooth Abnormalities ISO RGD:737459 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:7559133|PMID:9363853 12148605 PAX6 paired box 6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737459 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12148605 PAX6 paired box 6 gene DOID:9649 congenital nystagmus ISO RGD:737459 D RGD:9068941 20210115 RGD DNA:snp:intron:IVS4+5G>C (human) PMID:15629294|REF_RGD_ID:8552281 12148607 LCT lactase gene DOID:0060180 colitis ISO RGD:620823 D RGD:9068941 20200609 RGD protein:decreased expression, increased expression:jejunum PMID:17218984|REF_RGD_ID:1600240 12148607 LCT lactase gene DOID:0060591 WHIM syndrome 1 ISO RGD:1344800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 12148607 LCT lactase gene DOID:0111646 congenital lactase deficiency ISO RGD:1344800 D RGD:7240710 20180130 OMIM 12148607 LCT lactase gene DOID:0111646 congenital lactase deficiency ISO RGD:1344800 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital lactase deficiency PMID:16400612|PMID:17576681|PMID:19161632|PMID:22688420|PMID:23103231|PMID:25741868|PMID:25881162|PMID:28492532|PMID:30813293|PMID:9536098 12148607 LCT lactase gene DOID:10604 lactose intolerance ISO RGD:1344800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lactose intolerance PMID:25741868|PMID:28492532 12148607 LCT lactase gene DOID:11394 adult respiratory distress syndrome ISO RGD:1344800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12148607 LCT lactase gene DOID:13250 diarrhea ISO RGD:620823 D RGD:9068941 20200609 RGD PMID:15977434|REF_RGD_ID:1600253 12148607 LCT lactase gene DOID:630 genetic disease ISO RGD:1344800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12148607 LCT lactase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620823 D RGD:9068941 20200609 RGD PMID:16021836|REF_RGD_ID:1600251 12148638 CEMIP2 cell migration inducing hyaluronidase 2 gene DOID:630 genetic disease ISO RGD:1317427 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148638 CEMIP2 cell migration inducing hyaluronidase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317427 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12148638 CEMIP2 cell migration inducing hyaluronidase 2 gene DOID:9003133 Hypertelorism ISO RGD:1317427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 12148638 CEMIP2 cell migration inducing hyaluronidase 2 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1317427 D RGD:9068941 20201211 RGD DNA:SNP:exon: p.Ser1254Asn (human) PMID:22610944|REF_RGD_ID:40886317 12148673 C1RL complement C1r subcomponent like gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1346889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12148673 C1RL complement C1r subcomponent like gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1346889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12148673 C1RL complement C1r subcomponent like gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1346889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12148673 C1RL complement C1r subcomponent like gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1346889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12148673 C1RL complement C1r subcomponent like gene DOID:0111621 Temtamy syndrome ISO RGD:1346889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12148673 C1RL complement C1r subcomponent like gene DOID:630 genetic disease ISO RGD:1346889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148673 C1RL complement C1r subcomponent like gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1346889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12148691 INO80D INO80 complex subunit D gene DOID:11372 megacolon ISO RGD:1606537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12148691 INO80D INO80 complex subunit D gene DOID:14557 primary pulmonary hypertension ISO RGD:1606537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12148691 INO80D INO80 complex subunit D gene DOID:630 genetic disease ISO RGD:1606537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148691 INO80D INO80 complex subunit D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12148712 ZMIZ1 zinc finger MIZ-type containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1323172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12148712 ZMIZ1 zinc finger MIZ-type containing 1 gene DOID:1059 intellectual disability ISO RGD:1323172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28492532 12148712 ZMIZ1 zinc finger MIZ-type containing 1 gene DOID:10608 celiac disease ISO RGD:1323172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 12148712 ZMIZ1 zinc finger MIZ-type containing 1 gene DOID:3347 osteosarcoma ISO RGD:1323172 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34508303 12148712 ZMIZ1 zinc finger MIZ-type containing 1 gene DOID:630 genetic disease ISO RGD:1323172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26522984|PMID:28492532|PMID:30639322 12148712 ZMIZ1 zinc finger MIZ-type containing 1 gene DOID:9001002 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES ISO RGD:1323172 D RGD:7240710 20200115 OMIM 12148712 ZMIZ1 zinc finger MIZ-type containing 1 gene DOID:9001002 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES ISO RGD:1323172 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies PMID:25741868|PMID:28492532|PMID:30639322 12148712 ZMIZ1 zinc finger MIZ-type containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:28492532|PMID:30639322 12148712 ZMIZ1 zinc finger MIZ-type containing 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1323172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 12148712 ZMIZ1 zinc finger MIZ-type containing 1 gene DOID:9008582 Developmental Disease ISO RGD:1323172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12148762 FAM161B FAM161 centrosomal protein B gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1319187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 12148762 FAM161B FAM161 centrosomal protein B gene DOID:1059 intellectual disability ISO RGD:1319187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12148762 FAM161B FAM161 centrosomal protein B gene DOID:630 genetic disease ISO RGD:1319187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148779 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12148779 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1351703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12148779 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1351703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12148779 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1351703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12148779 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1351703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12148779 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1351703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12148779 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:1059 intellectual disability ISO RGD:1351703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12148779 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:12849 autistic disorder ISO RGD:1351703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12148779 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:4450 renal cell carcinoma ISO RGD:1351703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12148779 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:4450 renal cell carcinoma ISO RGD:1351703 D RGD:9068941 20200609 RGD PMID:12917640|REF_RGD_ID:1599384 12148779 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:630 genetic disease ISO RGD:1351703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30595499|PMID:32409512 12148779 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:9001418 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES ISO RGD:1351703 D RGD:7240710 20220209 OMIM 12148779 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:9001418 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES ISO RGD:1351703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies PMID:25741868|PMID:30595499|PMID:31833172|PMID:32409512 12148779 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30595499|PMID:31833172|PMID:32409512 12148779 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:9006749 Renal Cell Carcinoma, Xp11-Associated ISO RGD:1351703 D RGD:7240710 20180130 OMIM 12148779 TFE3 transcription factor binding to IGHM enhancer 3 gene DOID:9006749 Renal Cell Carcinoma, Xp11-Associated ISO RGD:1351703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma, Xp11-associated 12148797 NIPAL2 NIPA like domain containing 2 gene DOID:0111590 Cohen syndrome ISO RGD:1605636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12148797 NIPAL2 NIPA like domain containing 2 gene DOID:630 genetic disease ISO RGD:1605636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148797 NIPAL2 NIPA like domain containing 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12148818 PDZD4 PDZ domain containing 4 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1343770 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12148818 PDZD4 PDZ domain containing 4 gene DOID:0050476 Barth syndrome ISO RGD:1343770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12148818 PDZD4 PDZ domain containing 4 gene DOID:0050800 creatine transporter deficiency ISO RGD:1343770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 12148818 PDZD4 PDZ domain containing 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12148818 PDZD4 PDZ domain containing 4 gene DOID:0080600 COVID-19 ISO RGD:1343770 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12148818 PDZD4 PDZ domain containing 4 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1343770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 12148818 PDZD4 PDZ domain containing 4 gene DOID:0112003 immunodeficiency 33 ISO RGD:1343770 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12148818 PDZD4 PDZ domain containing 4 gene DOID:10588 adrenoleukodystrophy ISO RGD:1343770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12148818 PDZD4 PDZ domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1343770 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: intellectual disabilities 12148818 PDZD4 PDZ domain containing 4 gene DOID:10907 microcephaly ISO RGD:1343770 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Microcephaly 12148818 PDZD4 PDZ domain containing 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12148818 PDZD4 PDZ domain containing 4 gene DOID:12849 autistic disorder ISO RGD:1343770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12148818 PDZD4 PDZ domain containing 4 gene DOID:13628 favism ISO RGD:1343770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12148818 PDZD4 PDZ domain containing 4 gene DOID:2729 dyskeratosis congenita ISO RGD:1343770 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12148818 PDZD4 PDZ domain containing 4 gene DOID:480 movement disease ISO RGD:1343770 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Movement disorder 12148818 PDZD4 PDZ domain containing 4 gene DOID:607 paraplegia ISO RGD:1343770 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12148818 PDZD4 PDZ domain containing 4 gene DOID:630 genetic disease ISO RGD:1343770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148818 PDZD4 PDZ domain containing 4 gene DOID:9002720 Splenomegaly ISO RGD:1343770 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12148835 ATN1 atrophin 1 gene DOID:0060162 dentatorubral-pallidoluysian atrophy ISO RGD:1352790 D RGD:7240710 20180725 OMIM 12148835 ATN1 atrophin 1 gene DOID:0060162 dentatorubral-pallidoluysian atrophy ISO RGD:1352790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dentatorubral-pallidoluysian atrophy PMID:25741868 12148835 ATN1 atrophin 1 gene DOID:0060246 MASA syndrome ISO RGD:1352790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked hydrocephalus syndrome PMID:25741868 12148835 ATN1 atrophin 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1352790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12148835 ATN1 atrophin 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1352790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12148835 ATN1 atrophin 1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1352790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12148835 ATN1 atrophin 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1352790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12148835 ATN1 atrophin 1 gene DOID:0111621 Temtamy syndrome ISO RGD:1352790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12148835 ATN1 atrophin 1 gene DOID:5419 schizophrenia ISO RGD:1352790 D RGD:9068941 20200609 RGD PMID:9184318|REF_RGD_ID:1358440 12148835 ATN1 atrophin 1 gene DOID:630 genetic disease ISO RGD:1352790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28135719|PMID:30827498 12148835 ATN1 atrophin 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1352790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10814707 12148835 ATN1 atrophin 1 gene DOID:9007455 Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies ISO RGD:1352790 D RGD:7240710 20190814 OMIM 12148835 ATN1 atrophin 1 gene DOID:9007455 Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies ISO RGD:1352790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hypotonia, epilepsy, developmental delay, and digital anomalies PMID:17067864|PMID:25741868|PMID:30827498 12148835 ATN1 atrophin 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1352790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12148862 ZNF565 zinc finger protein 565 gene DOID:5419 schizophrenia ISO RGD:1344264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 12148862 ZNF565 zinc finger protein 565 gene DOID:630 genetic disease ISO RGD:1344264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148886 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1352747 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12148886 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:0050476 Barth syndrome ISO RGD:1352747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12148886 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1352747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 12148886 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12148886 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:0080600 COVID-19 ISO RGD:1352747 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12148886 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1352747 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:25741868 12148886 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1352747 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 12148886 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1352747 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12148886 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:0112150 X-linked spondyloepimetaphyseal dysplasia ISO RGD:1352747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: X-linked spondyloepimetaphyseal dysplasia PMID:10190819|PMID:12175782|PMID:14767898|PMID:15192815|PMID:15800013|PMID:15811009|PMID:16087056|PMID:17285533|PMID:20195870|PMID:20661612|PMID:21068741|PMID:21700483|PMID:21966424|PMID:23419472|PMID:23566833|PMID:25741868|PMID:26260157|PMID:26454440|PMID:27928321|PMID:28492532|PMID:7825602|PMID:7849723|PMID:8040304|PMID:8651290|PMID:9088111|PMID:9195223|PMID:9553942 12148886 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1352747 D RGD:7240710 20180130 OMIM 12148886 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1352747 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE | ClinVar Annotator: match by term: X-linked cerebral adrenoleukodystrophy PMID:10190819|PMID:10227685|PMID:10480364|PMID:10551832|PMID:10737980|PMID:10815658|PMID:10980539|PMID:11102997|PMID:11220738|PMID:11248239|PMID:11310629|PMID:11330045|PMID:11336405|PMID:11438993|PMID:11739809|PMID:11748843|PMID:11798073|PMID:11810273|PMID:12175782|PMID:12530690|PMID:12624723|PMID:12913200|PMID:14586615|PMID:14713218|PMID:14767898|PMID:1481812|PMID:15032602|PMID:15284851|PMID:15388659|PMID:15564782|PMID:15643618|PMID:15800013|PMID:15811009|PMID:15812458|PMID:15878823|PMID:16018167|PMID:16023551|PMID:16087056|PMID:16199547|PMID:16401743|PMID:16415970|PMID:16672758|PMID:16949688|PMID:16996397|PMID:17029209|PMID:17202797|PMID:17285533|PMID:17504626|PMID:17542813|PMID:17576681|PMID:17990484|PMID:18306728|PMID:18973459|PMID:19129531|PMID:19892975|PMID:20008255|PMID:20195870|PMID:20301491|PMID:20455653|PMID:20626745|PMID:20661612|PMID:20800589|PMID:20849526|PMID:20859061|PMID:21068741|PMID:21300044|PMID:21476988|PMID:21478203|PMID:21488864|PMID:21586746|PMID:21700483|PMID:21889498|PMID:21907609|PMID:21966424|PMID:22198747|PMID:22280810|PMID:22366764|PMID:22479560|PMID:22483867|PMID:22914231|PMID:23154058|PMID:23300730|PMID:23419472|PMID:23430809|PMID:23566833|PMID:23566848|PMID:23664929|PMID:23671276|PMID:23712774|PMID:23768953|PMID:23835273|PMID:24154795|PMID:24480483|PMID:24685009|PMID:24719134|PMID:24722136|PMID:24788897|PMID:25118695|PMID:25275259|PMID:25741868|PMID:26227820|PMID:26260157|PMID:26388597|PMID:26454440|PMID:26467025|PMID:26523528|PMID:26607867|PMID:26609365|PMID:27067449|PMID:27489563|PMID:27766264|PMID:27934597|PMID:28089346|PMID:28456143|PMID:28492532|PMID:28503596|PMID:28708278|PMID:28953922|PMID:28991658|PMID:29284317|PMID:29443243|PMID:29557549|PMID:30069915|PMID:31074578|PMID:31104286|PMID:31227335|PMID:31316545|PMID:31777199|PMID:32003821|PMID:32207279|PMID:32954314|PMID:33920672|PMID:34008892|PMID:34946879|PMID:35196747|PMID:6728562|PMID:6795626|PMID:7202134|PMID:7561948|PMID:7581394|PMID:7668254|PMID:7677014|PMID:7717396|PMID:7811247|PMID:7825602|PMID:7849718|PMID:7849723|PMID:7860075|PMID:7894167|PMID:7904210|PMID:7998779|PMID:8040304|PMID:8048932|PMID:8353949|PMID:8441467|PMID:8535452|PMID:8566952|PMID:8621506|PMID:8651290|PMID:8773611|PMID:8888042|PMID:8892025|PMID:9051655|PMID:9088111|PMID:9195223|PMID:9212180|PMID:9242200|PMID:9425230|PMID:9452087|PMID:9536098|PMID:9553942|PMID:9556301|PMID:9894883 12148886 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1352747 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE | ClinVar Annotator: match by term: X-linked cerebral adrenoleukodystrophy PMID:10190819|PMID:10227685|PMID:10369742|PMID:10480214|PMID:10480364|PMID:10551832|PMID:10737980|PMID:10815658|PMID:10980309|PMID:10980539|PMID:11063720|PMID:11102997|PMID:11220738|PMID:11248239|PMID:11310629|PMID:11330045|PMID:11336405|PMID:11438993|PMID:11739809|PMID:11748843|PMID:11798073|PMID:11810273|PMID:11968085|PMID:12175782|PMID:12402273|PMID:12530690|PMID:12624723|PMID:12913200|PMID:14586615|PMID:14713218|PMID:14767898|PMID:1481812|PMID:15032602|PMID:15192815|PMID:15284851|PMID:15333254|PMID:15388659|PMID:15564782|PMID:15643618|PMID:15800013|PMID:15811009|PMID:15812458|PMID:15878823|PMID:16018167|PMID:16023551|PMID:16087056|PMID:16199547|PMID:16401743|PMID:16415970|PMID:16427346|PMID:16601897|PMID:16672758|PMID:16684786|PMID:16949688|PMID:16996397|PMID:17029209|PMID:17202797|PMID:17285533|PMID:17372139|PMID:17498713|PMID:17504626|PMID:17542813|PMID:17576681|PMID:17990484|PMID:18206987|PMID:18306728|PMID:18973459|PMID:19129531|PMID:19234479|PMID:19325113|PMID:19396829|PMID:19496984|PMID:19592040|PMID:19660195|PMID:19846429|PMID:19892975|PMID:19963315|PMID:20008255|PMID:20195870|PMID:20228476|PMID:20301491|PMID:20376793|PMID:20455653|PMID:20626745|PMID:20661612|PMID:20730588|PMID:20800589|PMID:20849526|PMID:20859061|PMID:21068741|PMID:21264817|PMID:21300044|PMID:21476988|PMID:21478203|PMID:21488864|PMID:21586746|PMID:21700483|PMID:21889498|PMID:21907609|PMID:21966424|PMID:22045812|PMID:22176151|PMID:22189598|PMID:22198747|PMID:22280810|PMID:22281021|PMID:22366764|PMID:22382802|PMID:22479560|PMID:22483867|PMID:22687851|PMID:22914231|PMID:23009600|PMID:23154058|PMID:23300730|PMID:23409742|PMID:23419472|PMID:23430809|PMID:23469258|PMID:23566833|PMID:23566848|PMID:23651979|PMID:23660394|PMID:23664929|PMID:23671276|PMID:23712774|PMID:23768953|PMID:23835273|PMID:23864971|PMID:23926373|PMID:24154795|PMID:24365856|PMID:24480483|PMID:24685009|PMID:24719134|PMID:24722136|PMID:24788897|PMID:24962355|PMID:25118695|PMID:25275259|PMID:25324868|PMID:25741868|PMID:25835273|PMID:25835712|PMID:25999754|PMID:26227820|PMID:26260157|PMID:26266984|PMID:26388597|PMID:26454440|PMID:26467025|PMID:26471271|PMID:26523528|PMID:26607867|PMID:26609365|PMID:27067449|PMID:27489563|PMID:27766264|PMID:27779215|PMID:27928321|PMID:27934597|PMID:28086082|PMID:28089346|PMID:28216041|PMID:28456143|PMID:28481932|PMID:28492532|PMID:28503596|PMID:28601575|PMID:28708278|PMID:28953922|PMID:28991658|PMID:29056270|PMID:29284317|PMID:29334594|PMID:29443243|PMID:29557549|PMID:29950168|PMID:30069915|PMID:30544401|PMID:30564185|PMID:30658899|PMID:30902905|PMID:31074578|PMID:31104286|PMID:31227335|PMID:31316545|PMID:31452695|PMID:31526374|PMID:31777199|PMID:32003821|PMID:32047678|PMID:32101828|PMID:32207279|PMID:32307584|PMID:32954314|PMID:33151932|PMID:33247909|PMID:33359056|PMID:33547378|PMID:33920672|PMID:34008892|PMID:34012265|PMID:34302356|PMID:34946879|PMID:35053399|PMID:35076462|PMID:35196747|PMID:35466195|PMID:35535697|PMID:6728562|PMID:6795626|PMID:7202134|PMID:7561948|PMID:7581394|PMID:7668254|PMID:7677014|PMID:7717396|PMID:7811247|PMID:7825602|PMID:7849718|PMID:7849723|PMID:7860075|PMID:7894167|PMID:7904210|PMID:7998779|PMID:8040304|PMID:8048932|PMID:8353949|PMID:8441467|PMID:8535452|PMID:8566952|PMID:8621506|PMID:8651290|PMID:8773611|PMID:8888042|PMID:8889593|PMID:8892025|PMID:9051655|PMID:9088111|PMID:9195223|PMID:9212180|PMID:9242200|PMID:9384614|PMID:9425230|PMID:9452087|PMID:9536098|PMID:9551465|PMID:9553942|PMID:9556301|PMID:9584268|PMID:9846054|PMID:9894883 12148886 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:10588 adrenoleukodystrophy susceptibility ISO RGD:1352747 D RGD:9068941 20200609 RGD PMID:8048932|REF_RGD_ID:1598655 12148886 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:1059 intellectual disability ISO RGD:1352747 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:31316545|PMID:35535697 12148886 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1352747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12148886 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:12849 autistic disorder ISO RGD:1352747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12148886 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:13628 favism ISO RGD:1352747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12148886 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:13774 Addison's disease ISO RGD:1352747 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Primary adrenocortical insufficiency PMID:10190819|PMID:11248239|PMID:11748843|PMID:12530690|PMID:12624723|PMID:14767898|PMID:15032602|PMID:15811009|PMID:16087056|PMID:17542813|PMID:17990484|PMID:21476988|PMID:21700483|PMID:21966424|PMID:22479560|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7581394|PMID:7668254|PMID:8040304|PMID:8651290|PMID:8773611 12148886 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1352747 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12148886 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:607 paraplegia ISO RGD:1352747 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12148886 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:630 genetic disease ISO RGD:1352747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10190819|PMID:10227685|PMID:10480364|PMID:10737980|PMID:10980309|PMID:11438993|PMID:11748843|PMID:12175782|PMID:12402273|PMID:14767898|PMID:15192815|PMID:15800013|PMID:15811009|PMID:16087056|PMID:16199547|PMID:16415970|PMID:16949688|PMID:17285533|PMID:17372139|PMID:17542813|PMID:19129531|PMID:19325113|PMID:20661612|PMID:20800589|PMID:20859061|PMID:21068741|PMID:21300044|PMID:21700483|PMID:21889498|PMID:21966424|PMID:22045812|PMID:22189598|PMID:22280810|PMID:22479560|PMID:22483867|PMID:23419472|PMID:23430809|PMID:23566833|PMID:23864971|PMID:24154795|PMID:24719134|PMID:24920594|PMID:25275259|PMID:25324868|PMID:25741868|PMID:26227820|PMID:26266984|PMID:26454440|PMID:26467025|PMID:27928321|PMID:28086082|PMID:28216041|PMID:28481932|PMID:28492532|PMID:28708278|PMID:28991658|PMID:29056270|PMID:30069915|PMID:30902905|PMID:31074578|PMID:31104286|PMID:31526374|PMID:32003821|PMID:32047678|PMID:32101828|PMID:33247909|PMID:33920672|PMID:34946879|PMID:35053399|PMID:7581394|PMID:7668254|PMID:7717396|PMID:7825602|PMID:7849723|PMID:8535452|PMID:8566952|PMID:8651290|PMID:9088111|PMID:9195223|PMID:9242200|PMID:9425230|PMID:9553942|PMID:9712540|PMID:9846054 12148886 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:9002720 Splenomegaly ISO RGD:1352747 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12148886 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:9006230 Neurologic Gait Disorders ISO RGD:1352747 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Spastic gait PMID:21966424|PMID:22479560|PMID:25741868|PMID:26454440|PMID:28481932|PMID:28492532|PMID:31104286|PMID:8535452|PMID:9242200|PMID:9846054 12148886 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1352747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12148886 ABCD1 ATP binding cassette subfamily D member 1 gene DOID:9588 encephalitis ISO RGD:1352747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalitis PMID:11748843|PMID:16199547|PMID:25741868|PMID:28492532 12148900 ZIC5 Zic family member 5 gene DOID:0080074 neural tube defect ISO RGD:1320899 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15136147 12148900 ZIC5 Zic family member 5 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1320899 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 12148900 ZIC5 Zic family member 5 gene DOID:14701 propionic acidemia ISO RGD:1320899 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 12148900 ZIC5 Zic family member 5 gene DOID:4621 holoprosencephaly ISO RGD:1320899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 12148900 ZIC5 Zic family member 5 gene DOID:630 genetic disease ISO RGD:1320899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148900 ZIC5 Zic family member 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1320899 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12148900 ZIC5 Zic family member 5 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1320899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12148900 ZIC5 Zic family member 5 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320899 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15136147 12148920 OR56B1 olfactory receptor family 56 subfamily B member 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1347435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12148920 OR56B1 olfactory receptor family 56 subfamily B member 1 gene DOID:630 genetic disease ISO RGD:1347435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148929 PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1346725 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 12148929 PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase gene DOID:5419 schizophrenia ISO RGD:1346725 D RGD:9068941 20200609 RGD DNA:snp:intron:c.2627T>C rs1356787 (human) PMID:19850283|REF_RGD_ID:5135429 12148929 PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase gene DOID:630 genetic disease ISO RGD:1346725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148929 PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase gene DOID:9000051 PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY ISO RGD:1346725 D RGD:7240710 20220713 OMIM 12148929 PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase gene DOID:9000051 PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY ISO RGD:1346725 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Phosphoribosylaminoimidazole carboxylase deficiency PMID:31600779 12148953 GPR35 G protein-coupled receptor 35 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1319732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12148953 GPR35 G protein-coupled receptor 35 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1319732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12148953 GPR35 G protein-coupled receptor 35 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1319732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 12148953 GPR35 G protein-coupled receptor 35 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1319732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12148953 GPR35 G protein-coupled receptor 35 gene DOID:1059 intellectual disability ISO RGD:1319732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12148953 GPR35 G protein-coupled receptor 35 gene DOID:630 genetic disease ISO RGD:1319732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12148953 GPR35 G protein-coupled receptor 35 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1319732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12148963 FANCE FA complementation group E gene DOID:0050553 JMP syndrome ISO RGD:1354425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12148963 FANCE FA complementation group E gene DOID:0111084 Fanconi anemia complementation group E ISO RGD:1354425 D RGD:7240710 20180130 OMIM 12148963 FANCE FA complementation group E gene DOID:0111084 Fanconi anemia complementation group E ISO RGD:1354425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group E PMID:10205272|PMID:11001585|PMID:14695169|PMID:15609317|PMID:16199547|PMID:16774934|PMID:17308347|PMID:17576681|PMID:17924555|PMID:18271933|PMID:21279724|PMID:22778927|PMID:24033266|PMID:24728327|PMID:25058500|PMID:25741868|PMID:26822949|PMID:27165003|PMID:27913932|PMID:28492532|PMID:30609409|PMID:31102422|PMID:32487094|PMID:32546565|PMID:32947577|PMID:33084842|PMID:33326660|PMID:7662964|PMID:9382107|PMID:9536098 12148963 FANCE FA complementation group E gene DOID:10907 microcephaly ISO RGD:1354425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12148963 FANCE FA complementation group E gene DOID:13636 Fanconi anemia ISO RGD:1354425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:24728327|PMID:25741868|PMID:28492532|PMID:32546565|PMID:33084842|PMID:33326660 12148963 FANCE FA complementation group E gene DOID:1520 colon carcinoma ISO RGD:1354425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:25058500|PMID:27165003|PMID:28492532 12148963 FANCE FA complementation group E gene DOID:1612 breast cancer ISO RGD:1354425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532 12148963 FANCE FA complementation group E gene DOID:2394 ovarian cancer ISO RGD:1354425 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:28492532 12148963 FANCE FA complementation group E gene DOID:4905 pancreatic carcinoma ISO RGD:1354425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:11001585|PMID:17924555|PMID:21279724|PMID:25741868|PMID:26822949|PMID:28492532 12148963 FANCE FA complementation group E gene DOID:5426 primary ovarian insufficiency ISO RGD:1614308 D RGD:9068941 20200609 RGD PMID:26939056|REF_RGD_ID:11344915 12148963 FANCE FA complementation group E gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354425 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:33326660 12148963 FANCE FA complementation group E gene DOID:630 genetic disease ISO RGD:1354425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12148991 ITIH5 inter-alpha-trypsin inhibitor heavy chain 5 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1606774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12148991 ITIH5 inter-alpha-trypsin inhibitor heavy chain 5 gene DOID:10283 prostate cancer ISO RGD:1606774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12148991 ITIH5 inter-alpha-trypsin inhibitor heavy chain 5 gene DOID:630 genetic disease ISO RGD:1606774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149008 MIR25 microRNA mir-25 gene DOID:10591 pre-eclampsia ISO RGD:1351042 D RGD:9068941 20230128 RGD miRNA:increased expression:blood serum (human) PMID:25017274|REF_RGD_ID:155882496 12149008 MIR25 microRNA mir-25 gene DOID:3021 acute kidney failure ISO RGD:1351042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 12149008 MIR25 microRNA mir-25 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12149008 MIR25 microRNA mir-25 gene DOID:5844 myocardial infarction ISO RGD:1607596 D RGD:9068941 20230202 RGD RNA:increased expression:myocardium: PMID:28887629|REF_RGD_ID:155882580 12149008 MIR25 microRNA mir-25 gene DOID:684 hepatocellular carcinoma ISO RGD:1351042 D RGD:9068941 20200609 RGD associated with hepatitis B;miRNA:increased expression:liver (human) PMID:27298561|REF_RGD_ID:15042853 12149008 MIR25 microRNA mir-25 gene DOID:684 hepatocellular carcinoma ISO RGD:1351042 D RGD:9068941 20200609 RGD associated with hepatitis B;miRNA:increased expression:serum (human) PMID:21098710|REF_RGD_ID:15042899 12149008 MIR25 microRNA mir-25 gene DOID:684 hepatocellular carcinoma ISO RGD:1607596 D RGD:9068941 20200609 RGD associated with hepatitis B;miRNA:increased expression:liver (human) PMID:27298561|REF_RGD_ID:15042853 12149008 MIR25 microRNA mir-25 gene DOID:684 hepatocellular carcinoma ISO RGD:1607596 D RGD:9068941 20200609 RGD associated with hepatitis B;miRNA:increased expression:serum (human) PMID:21098710|REF_RGD_ID:15042899 12149008 MIR25 microRNA mir-25 gene DOID:684 hepatocellular carcinoma ISO RGD:2325594 D RGD:9068941 20200609 RGD associated with hepatitis B;miRNA:increased expression:liver (human) PMID:27298561|REF_RGD_ID:15042853 12149008 MIR25 microRNA mir-25 gene DOID:684 hepatocellular carcinoma ISO RGD:2325594 D RGD:9068941 20200609 RGD associated with hepatitis B;miRNA:increased expression:serum (human) PMID:21098710|REF_RGD_ID:15042899 12149008 MIR25 microRNA mir-25 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1351042 D RGD:9068941 20200609 RGD miRNA:increased expression:liver (human) PMID:24593846|PMID:30191950|REF_RGD_ID:15039389|REF_RGD_ID:15042897 12149008 MIR25 microRNA mir-25 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1607596 D RGD:9068941 20200609 RGD miRNA:increased expression:liver (human) PMID:24593846|PMID:30191950|REF_RGD_ID:15039389|REF_RGD_ID:15042897 12149008 MIR25 microRNA mir-25 gene DOID:684 hepatocellular carcinoma severity ISO RGD:2325594 D RGD:9068941 20200609 RGD miRNA:increased expression:liver (human) PMID:24593846|PMID:30191950|REF_RGD_ID:15039389|REF_RGD_ID:15042897 12149008 MIR25 microRNA mir-25 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1351042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22048643 12149011 FGFRL1 fibroblast growth factor receptor like 1 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:1354107 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome PMID:25741868|PMID:28492532 12149011 FGFRL1 fibroblast growth factor receptor like 1 gene DOID:0080600 COVID-19 ISO RGD:1354107 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12149011 FGFRL1 fibroblast growth factor receptor like 1 gene DOID:10907 microcephaly ISO RGD:1354107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12149011 FGFRL1 fibroblast growth factor receptor like 1 gene DOID:1856 cherubism ISO RGD:1354107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12149011 FGFRL1 fibroblast growth factor receptor like 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1354107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:25741868|PMID:28492532|PMID:33443296 12149011 FGFRL1 fibroblast growth factor receptor like 1 gene DOID:630 genetic disease ISO RGD:1354107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12149011 FGFRL1 fibroblast growth factor receptor like 1 gene DOID:9001308 Wittwer Syndrome ISO RGD:1354107 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wittwer syndrome PMID:25741868|PMID:28492532 12149011 FGFRL1 fibroblast growth factor receptor like 1 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1354107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:28492532|PMID:34113002 12149011 FGFRL1 fibroblast growth factor receptor like 1 gene DOID:9006836 Contracture ISO RGD:1354107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 12149100 RND1 Rho family GTPase 1 gene DOID:630 genetic disease ISO RGD:1314903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149109 DCTN5 dynactin subunit 5 gene DOID:630 genetic disease ISO RGD:1603378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149109 DCTN5 dynactin subunit 5 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1603378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:20852946|PMID:20927582 12149119 STRBP spermatid perinuclear RNA binding protein gene DOID:3910 lung adenocarcinoma ISO RGD:1352738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12149119 STRBP spermatid perinuclear RNA binding protein gene DOID:630 genetic disease ISO RGD:1352738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149119 STRBP spermatid perinuclear RNA binding protein gene DOID:9006205 Animal Disease Models ISO RGD:1352738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12149153 ZBTB18 zinc finger and BTB domain containing 18 gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1551787 D RGD:9068941 20220825 MouseDO 12149153 ZBTB18 zinc finger and BTB domain containing 18 gene DOID:0070052 autosomal dominant intellectual developmental disorder 22 ISO RGD:1346592 D RGD:7240710 20180130 OMIM 12149153 ZBTB18 zinc finger and BTB domain containing 18 gene DOID:0070052 autosomal dominant intellectual developmental disorder 22 ISO RGD:1346592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 22 | ClinVar Annotator: match by term: ZBTB18-Related Disorder PMID:24193349|PMID:25741868|PMID:26740508|PMID:27598823|PMID:28135719|PMID:28283832|PMID:28492532|PMID:29158550|PMID:29573576 12149153 ZBTB18 zinc finger and BTB domain containing 18 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1346592 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12149153 ZBTB18 zinc finger and BTB domain containing 18 gene DOID:1059 intellectual disability ISO RGD:1346592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:27598823|PMID:28135719|PMID:28283832|PMID:29573576 12149153 ZBTB18 zinc finger and BTB domain containing 18 gene DOID:1540 parathyroid carcinoma ISO RGD:1346592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12149153 ZBTB18 zinc finger and BTB domain containing 18 gene DOID:630 genetic disease ISO RGD:1346592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356970|PMID:25741868|PMID:26740508|PMID:27598823|PMID:28135719|PMID:28283832|PMID:28492532 12149153 ZBTB18 zinc finger and BTB domain containing 18 gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:1346592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 PMID:25087610 12149153 ZBTB18 zinc finger and BTB domain containing 18 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1346592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 12149153 ZBTB18 zinc finger and BTB domain containing 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12149153 ZBTB18 zinc finger and BTB domain containing 18 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1346592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12149153 ZBTB18 zinc finger and BTB domain containing 18 gene DOID:9008086 Developmental Disabilities ISO RGD:1346592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:36937954 12149153 ZBTB18 zinc finger and BTB domain containing 18 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12149163 RGS19 regulator of G protein signaling 19 gene DOID:630 genetic disease ISO RGD:1353904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149200 CCDC166 coiled-coil domain containing 166 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:5134207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12149200 CCDC166 coiled-coil domain containing 166 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:5134207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12149200 CCDC166 coiled-coil domain containing 166 gene DOID:4621 holoprosencephaly ISO RGD:5134207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12149200 CCDC166 coiled-coil domain containing 166 gene DOID:630 genetic disease ISO RGD:5134207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149213 NFKBIE NFKB inhibitor epsilon gene DOID:1909 melanoma ISO RGD:1352834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26343386 12149213 NFKBIE NFKB inhibitor epsilon gene DOID:630 genetic disease ISO RGD:1352834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149213 NFKBIE NFKB inhibitor epsilon gene DOID:7148 rheumatoid arthritis ISO RGD:1352834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 12149213 NFKBIE NFKB inhibitor epsilon gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12149221 COL6A1 collagen type VI alpha 1 chain gene DOID:0050558 Ullrich congenital muscular dystrophy IAGP D RGD:12801476 20210603 OMIA Muscular dystrophy, Ullrich type, COL6A1-related PMID:26438297|PMID:24147807|PMID:33382107 12149221 COL6A1 collagen type VI alpha 1 chain gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:1352880 D RGD:7240710 20180130 OMIM 12149221 COL6A1 collagen type VI alpha 1 chain gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:1352880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COL6A1-related Disorder | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1, autosomal dominant PMID:15689448|PMID:16088929|PMID:16130093|PMID:16935502|PMID:17015493|PMID:17785673|PMID:17785674|PMID:17886299|PMID:18160674|PMID:18414213|PMID:18642359|PMID:18825676|PMID:19204719|PMID:19344236|PMID:19564581|PMID:20301676|PMID:20576434|PMID:20882040|PMID:20976770|PMID:22075033|PMID:22789865|PMID:22975586|PMID:23572247|PMID:24038877|PMID:24223098|PMID:24801232|PMID:24959844|PMID:25741868|PMID:26467025|PMID:26867126|PMID:27363342|PMID:27708273|PMID:27854213|PMID:28182637|PMID:28424332|PMID:28492532|PMID:30895940|PMID:34008892|PMID:7551830|PMID:7695699|PMID:8218237|PMID:8730294|PMID:9724608 12149221 COL6A1 collagen type VI alpha 1 chain gene DOID:0050663 Bethlem myopathy ISO RGD:1352880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, benign congenital | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:10419498|PMID:11707460|PMID:12840783|PMID:15689448|PMID:15955946|PMID:16088929|PMID:16130093|PMID:16199547|PMID:17015493|PMID:17576681|PMID:17886299|PMID:18366090|PMID:18414213|PMID:18825676|PMID:19204719|PMID:19344236|PMID:20301676|PMID:20302629|PMID:20976770|PMID:20981092|PMID:21280092|PMID:22075033|PMID:22789865|PMID:22975586|PMID:23040494|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24223098|PMID:24271325|PMID:25741868|PMID:25749816|PMID:26467025|PMID:26867126|PMID:27363342|PMID:27708273|PMID:27854213|PMID:27884173|PMID:28182637|PMID:28492532|PMID:29419890|PMID:30564623|PMID:34167565|PMID:7551830|PMID:7695699|PMID:8218237|PMID:8730294|PMID:9536098|PMID:9724608 12149221 COL6A1 collagen type VI alpha 1 chain gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1352880 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12149221 COL6A1 collagen type VI alpha 1 chain gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1352880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 12149221 COL6A1 collagen type VI alpha 1 chain gene DOID:0110266 cataract 9 multiple types ISO RGD:1352880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12149221 COL6A1 collagen type VI alpha 1 chain gene DOID:12849 autistic disorder ISO RGD:1352880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12149221 COL6A1 collagen type VI alpha 1 chain gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1352880 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 12149221 COL6A1 collagen type VI alpha 1 chain gene DOID:423 myopathy ISO RGD:1352880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy PMID:16199547|PMID:18366090|PMID:20976770|PMID:21280092|PMID:25635128|PMID:25741868|PMID:27854213|PMID:28492532|PMID:28771251 12149221 COL6A1 collagen type VI alpha 1 chain gene DOID:630 genetic disease ISO RGD:1352880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15689448|PMID:18825676|PMID:19204719|PMID:19344236|PMID:20576434|PMID:24038877|PMID:25741868|PMID:27708273|PMID:28182637|PMID:28492532|PMID:34167565|PMID:7695699|PMID:8218237|PMID:9724608 12149221 COL6A1 collagen type VI alpha 1 chain gene DOID:891 progressive myoclonus epilepsy ISO RGD:1352880 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12149221 COL6A1 collagen type VI alpha 1 chain gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1352880 D RGD:7240710 20190327 OMIM 12149221 COL6A1 collagen type VI alpha 1 chain gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1352880 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:10329467|PMID:10419498|PMID:11707460|PMID:11865138|PMID:11932968|PMID:12840783|PMID:15563506|PMID:15689448|PMID:15955946|PMID:16088929|PMID:16130093|PMID:16199547|PMID:16278855|PMID:16935502|PMID:17015493|PMID:17576681|PMID:17785673|PMID:17785674|PMID:17886299|PMID:18160674|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18642359|PMID:18825676|PMID:19204719|PMID:19344236|PMID:19564581|PMID:19884007|PMID:20301468|PMID:20301676|PMID:20302629|PMID:20576434|PMID:20882040|PMID:20976770|PMID:20981092|PMID:21280092|PMID:21520333|PMID:22075033|PMID:22789865|PMID:22975586|PMID:23040494|PMID:23326386|PMID:23572247|PMID:23738969|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24223098|PMID:24271325|PMID:24801232|PMID:24959844|PMID:25204870|PMID:25535305|PMID:25635128|PMID:25640679|PMID:25741868|PMID:25749816|PMID:25978941|PMID:26436962|PMID:26467025|PMID:26867126|PMID:27363342|PMID:27447704|PMID:27708273|PMID:27854213|PMID:27854218|PMID:27884173|PMID:28182637|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28771251|PMID:28831785|PMID:28877744|PMID:28984114|PMID:29382405|PMID:29406609|PMID:29417091|PMID:29419890|PMID:30564623|PMID:30706156|PMID:30895940|PMID:31130284|PMID:32065942|PMID:32154989|PMID:32389683|PMID:32403337|PMID:32528171|PMID:33250842|PMID:34008892|PMID:34167565|PMID:7551830|PMID:7695699|PMID:7881296|PMID:8218237|PMID:8268929|PMID:8730294|PMID:8782832|PMID:9536098|PMID:9580662|PMID:9724608 12149221 COL6A1 collagen type VI alpha 1 chain gene DOID:9001550 Bethlem Myopathy 1 susceptibility ISO RGD:1352880 D RGD:9068941 20200609 RGD Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human) PMID:8782832|REF_RGD_ID:1600934 12149221 COL6A1 collagen type VI alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12149221 COL6A1 collagen type VI alpha 1 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:1352880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12149221 COL6A1 collagen type VI alpha 1 chain gene DOID:9005172 Lung Neoplasms ISO RGD:1352880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23692979 12149221 COL6A1 collagen type VI alpha 1 chain gene DOID:9007913 Collagen VI-related Myopathy ISO RGD:1352880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:11707460|PMID:15689448|PMID:15955946|PMID:16088929|PMID:16130093|PMID:17015493|PMID:17576681|PMID:18378883|PMID:18414213|PMID:19344236|PMID:20302629|PMID:20976770|PMID:20981092|PMID:22075033|PMID:22789865|PMID:22975586|PMID:23040494|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24223098|PMID:25741868|PMID:26467025|PMID:26867126|PMID:27363342|PMID:27854213|PMID:27884173|PMID:28492532|PMID:28831785|PMID:30564623|PMID:32389683|PMID:34167565|PMID:7551830|PMID:7695699|PMID:8218237|PMID:8730294|PMID:9536098 12149221 COL6A1 collagen type VI alpha 1 chain gene DOID:9263 homocystinuria ISO RGD:1352880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12149221 COL6A1 collagen type VI alpha 1 chain gene DOID:9277 primary cerebellar degeneration ISO RGD:1352880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorimotor neuropathy PMID:10419498|PMID:12840783|PMID:15955946|PMID:16199547|PMID:17886299|PMID:18366090|PMID:20301676|PMID:20976770|PMID:21280092|PMID:24271325|PMID:25741868|PMID:25749816|PMID:28492532|PMID:29419890 12149221 COL6A1 collagen type VI alpha 1 chain gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352880 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12149221 COL6A1 collagen type VI alpha 1 chain gene DOID:9775 diastolic heart failure ISO RGD:1352880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12149221 COL6A1 collagen type VI alpha 1 chain gene DOID:9884 muscular dystrophy ISO RGD:1352880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20716577 12149260 TRIM28 tripartite motif containing 28 gene DOID:10283 prostate cancer ISO RGD:736265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12149260 TRIM28 tripartite motif containing 28 gene DOID:1936 atherosclerosis ISO RGD:736265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31351049 12149260 TRIM28 tripartite motif containing 28 gene DOID:2154 nephroblastoma ISO RGD:736265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 PMID:25741868|PMID:32699065 12149260 TRIM28 tripartite motif containing 28 gene DOID:630 genetic disease ISO RGD:736265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149260 TRIM28 tripartite motif containing 28 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 12149281 HMGA1 high mobility group AT-hook 1 gene DOID:0050553 JMP syndrome ISO RGD:1345409 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12149281 HMGA1 high mobility group AT-hook 1 gene DOID:0060058 lymphoma ISO RGD:1553686 D RGD:9068941 20220825 MouseDO 12149281 HMGA1 high mobility group AT-hook 1 gene DOID:1967 leiomyosarcoma ISO RGD:1345409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645019 12149281 HMGA1 high mobility group AT-hook 1 gene DOID:363 uterine cancer ISO RGD:1553686 D RGD:9068941 20220825 MouseDO 12149281 HMGA1 high mobility group AT-hook 1 gene DOID:4195 hyperglycemia ISO RGD:1345409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23512162 12149281 HMGA1 high mobility group AT-hook 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1553686 D RGD:9068941 20220825 MouseDO 12149281 HMGA1 high mobility group AT-hook 1 gene DOID:630 genetic disease ISO RGD:1345409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149281 HMGA1 high mobility group AT-hook 1 gene DOID:9004268 Uterine Neoplasms ISO RGD:1345409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645019 12149281 HMGA1 high mobility group AT-hook 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:1345409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23512162 12149281 HMGA1 high mobility group AT-hook 1 gene DOID:9007692 Insulin Resistance ISO RGD:1345409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23512162 12149281 HMGA1 high mobility group AT-hook 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to PMID:15924147|PMID:21364139 12149281 HMGA1 high mobility group AT-hook 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1345409 D RGD:7240710 20230505 OMIM 12149291 PA2G4 proliferation-associated 2G4 gene DOID:630 genetic disease ISO RGD:1354307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149291 PA2G4 proliferation-associated 2G4 gene DOID:9000217 Stomach Neoplasms ISO RGD:1354307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12149291 PA2G4 proliferation-associated 2G4 gene DOID:9000918 Disease Progression ISO RGD:1354307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12149308 KDELR3 KDEL endoplasmic reticulum protein retention receptor 3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1323044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12149308 KDELR3 KDEL endoplasmic reticulum protein retention receptor 3 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1323044 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12149308 KDELR3 KDEL endoplasmic reticulum protein retention receptor 3 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1323044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12149308 KDELR3 KDEL endoplasmic reticulum protein retention receptor 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1323044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12149308 KDELR3 KDEL endoplasmic reticulum protein retention receptor 3 gene DOID:630 genetic disease ISO RGD:1323044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149317 NCBP1 nuclear cap binding protein subunit 1 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1319058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 12149317 NCBP1 nuclear cap binding protein subunit 1 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1319058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 12149317 NCBP1 nuclear cap binding protein subunit 1 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1319058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 12149317 NCBP1 nuclear cap binding protein subunit 1 gene DOID:1059 intellectual disability ISO RGD:1319058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12149317 NCBP1 nuclear cap binding protein subunit 1 gene DOID:12712 nephronophthisis ISO RGD:1319058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 12149317 NCBP1 nuclear cap binding protein subunit 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1319058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 12149317 NCBP1 nuclear cap binding protein subunit 1 gene DOID:630 genetic disease ISO RGD:1319058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149317 NCBP1 nuclear cap binding protein subunit 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1319058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 12149344 TUT4 terminal uridylyl transferase 4 gene DOID:1612 breast cancer severity ISO RGD:1320865 D RGD:9068941 20200609 RGD in conjunction with E2f1 expression;mRNA:increased expression:breast (human PMID:21453498|REF_RGD_ID:11530014 12149344 TUT4 terminal uridylyl transferase 4 gene DOID:630 genetic disease ISO RGD:1320865 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149344 TUT4 terminal uridylyl transferase 4 gene DOID:916 liver benign neoplasm ISO RGD:1320865 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:24056962|REF_RGD_ID:11530012 12149399 PTGR3 prostaglandin reductase 3 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1320648 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12149399 PTGR3 prostaglandin reductase 3 gene DOID:630 genetic disease ISO RGD:1320648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149399 PTGR3 prostaglandin reductase 3 gene DOID:6420 pulmonary valve stenosis ISO RGD:1320648 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12149399 PTGR3 prostaglandin reductase 3 gene DOID:8445 intestinal volvulus ISO RGD:1320648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12149399 PTGR3 prostaglandin reductase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12149399 PTGR3 prostaglandin reductase 3 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1320648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12149408 LSM14A LSM14A mRNA processing body assembly factor gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1313874 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12149408 LSM14A LSM14A mRNA processing body assembly factor gene DOID:630 genetic disease ISO RGD:1313874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149434 DNAJC12 DnaJ heat shock protein family (Hsp40) member C12 gene DOID:13580 cholestasis ISO RGD:1602472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12149434 DNAJC12 DnaJ heat shock protein family (Hsp40) member C12 gene DOID:630 genetic disease ISO RGD:1602472 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30626930|PMID:32333439 12149434 DNAJC12 DnaJ heat shock protein family (Hsp40) member C12 gene DOID:9004032 HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT ISO RGD:1602472 D RGD:7240710 20190315 OMIM 12149434 DNAJC12 DnaJ heat shock protein family (Hsp40) member C12 gene DOID:9004032 HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT ISO RGD:1602472 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperphenylalaninemia, mild, non-bh4-deficient PMID:25741868|PMID:28132689|PMID:28492532|PMID:28794131|PMID:28892570|PMID:30139987|PMID:30626930|PMID:32333439|PMID:9159748 12149434 DNAJC12 DnaJ heat shock protein family (Hsp40) member C12 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1602472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12149454 NRG3 neuregulin 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1317640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon PMID:28492532 12149454 NRG3 neuregulin 3 gene DOID:5419 schizophrenia ISO RGD:1317640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20713722 12149454 NRG3 neuregulin 3 gene DOID:5419 schizophrenia ISO RGD:1317641 D RGD:9068941 20220825 MouseDO OMIM:181500 12149454 NRG3 neuregulin 3 gene DOID:630 genetic disease ISO RGD:1317640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149478 LOC480510 alanyl-tRNA editing protein Aarsd1 gene DOID:630 genetic disease ISO RGD:1606776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149497 RPL35 ribosomal protein L35 gene DOID:0111886 Diamond-Blackfan anemia 19 ISO RGD:1353068 D RGD:7240710 20190315 OMIM 12149497 RPL35 ribosomal protein L35 gene DOID:0111886 Diamond-Blackfan anemia 19 ISO RGD:1353068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 19 PMID:28280134 12149497 RPL35 ribosomal protein L35 gene DOID:630 genetic disease ISO RGD:1353068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12149505 BCORL1 BCL6 corepressor like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12149505 BCORL1 BCL6 corepressor like 1 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1346589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:24357419|PMID:28492532 12149505 BCORL1 BCL6 corepressor like 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1346589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12149505 BCORL1 BCL6 corepressor like 1 gene DOID:0111841 Shukla-Vernon syndrome ISO RGD:1346589 D RGD:7240710 20190821 OMIM 12149505 BCORL1 BCL6 corepressor like 1 gene DOID:0111841 Shukla-Vernon syndrome ISO RGD:1346589 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Shukla-Vernon syndrome PMID:24047651|PMID:24896186|PMID:25741868|PMID:27470916|PMID:28492532|PMID:30941876|PMID:33810051|PMID:35178361 12149505 BCORL1 BCL6 corepressor like 1 gene DOID:1059 intellectual disability ISO RGD:1346589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12149505 BCORL1 BCL6 corepressor like 1 gene DOID:12849 autistic disorder ISO RGD:1346589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:25741868|PMID:30208311 12149505 BCORL1 BCL6 corepressor like 1 gene DOID:1826 epilepsy ISO RGD:1346589 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12149505 BCORL1 BCL6 corepressor like 1 gene DOID:2154 nephroblastoma ISO RGD:1346589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 12149505 BCORL1 BCL6 corepressor like 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1346589 D RGD:9068941 20210903 RGD PMID:26648304|REF_RGD_ID:11342082 12149505 BCORL1 BCL6 corepressor like 1 gene DOID:630 genetic disease ISO RGD:1346589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149505 BCORL1 BCL6 corepressor like 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346589 D RGD:9068941 20210903 RGD PMID:26879601|PMID:29679906|REF_RGD_ID:11556159|REF_RGD_ID:150340705 12149505 BCORL1 BCL6 corepressor like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346589 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12149505 BCORL1 BCL6 corepressor like 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1346589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12149505 BCORL1 BCL6 corepressor like 1 gene DOID:9538 multiple myeloma ISO RGD:1346589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12149531 TGFBRAP1 transforming growth factor beta receptor associated protein 1 gene DOID:2843 long QT syndrome ISO RGD:1321869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12149531 TGFBRAP1 transforming growth factor beta receptor associated protein 1 gene DOID:630 genetic disease ISO RGD:1321869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149546 LOC482230 olfactory receptor 2L13 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1348735 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12149546 LOC482230 olfactory receptor 2L13 gene DOID:1540 parathyroid carcinoma ISO RGD:1348735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12149546 LOC482230 olfactory receptor 2L13 gene DOID:630 genetic disease ISO RGD:1348735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149546 LOC482230 olfactory receptor 2L13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12149546 LOC482230 olfactory receptor 2L13 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12149547 QSER1 glutamine and serine rich 1 gene DOID:1059 intellectual disability ISO RGD:1605632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12149547 QSER1 glutamine and serine rich 1 gene DOID:630 genetic disease ISO RGD:1605632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149568 UBE2M ubiquitin conjugating enzyme E2 M gene DOID:630 genetic disease ISO RGD:1316910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149578 GATA2 GATA binding protein 2 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 12149578 GATA2 GATA binding protein 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:734291 D RGD:7240710 20230505 OMIM 12149578 GATA2 GATA binding protein 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:734291 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:20040766|PMID:21242295|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21892158|PMID:21892162|PMID:22147895|PMID:22271902|PMID:22533337|PMID:23365458|PMID:23502222|PMID:24077845|PMID:24227816|PMID:24266605|PMID:24345756|PMID:25359990|PMID:25676417|PMID:25741868|PMID:25879889|PMID:26492932|PMID:26702063|PMID:26812071|PMID:27288520|PMID:27418648|PMID:27577878|PMID:28492532|PMID:28747912|PMID:28947108|PMID:29588856|PMID:30578959|PMID:31035956|PMID:31340620|PMID:31350183|PMID:32135276|PMID:33510405|PMID:4508672 12149578 GATA2 GATA binding protein 2 gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:734291 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow: PMID:12145700|REF_RGD_ID:10450753 12149578 GATA2 GATA binding protein 2 gene DOID:0111947 immunodeficiency 21 ISO RGD:734291 D RGD:7240710 20230505 OMIM 12149578 GATA2 GATA binding protein 2 gene DOID:0111947 immunodeficiency 21 ISO RGD:734291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COMBINED IMMUNODEFICIENCY WITH SUSCEPTIBILITY TO MYCOBACTERIAL, VIRAL, AND FUNGAL INFECTIONS | ClinVar Annotator: match by term: Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency | ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: MONOCYTOPENIA WITH SUSCEPTIBILITY TO MYCOBACTERIAL, FUNGAL, AND PAPILLOMAVIRUS INFECTIONS AND MYELODYSPLASIA | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:16199547|PMID:17576681|PMID:18250304|PMID:20040766|PMID:21242295|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21892158|PMID:21892162|PMID:22147895|PMID:22271902|PMID:22430350|PMID:22533337|PMID:22996659|PMID:23223431|PMID:23365458|PMID:23443460|PMID:23502222|PMID:23560626|PMID:23728141|PMID:24033149|PMID:24033266|PMID:24077845|PMID:24227816|PMID:24266605|PMID:24345756|PMID:24578498|PMID:24728327|PMID:24754962|PMID:24782121|PMID:25239263|PMID:25326637|PMID:25359990|PMID:2543925|PMID:25619630|PMID:25624456|PMID:25676417|PMID:25741868|PMID:25879889|PMID:26022708|PMID:26214525|PMID:26264606|PMID:26445707|PMID:26492932|PMID:26702063|PMID:26710799|PMID:26748574|PMID:26812071|PMID:27013649|PMID:27232273|PMID:27266944|PMID:27288520|PMID:27375010|PMID:27416790|PMID:27418648|PMID:27577878|PMID:27680514|PMID:27876779|PMID:27894982|PMID:27924436|PMID:28104920|PMID:28209719|PMID:28259234|PMID:28440875|PMID:28485484|PMID:28492532|PMID:28642594|PMID:28747912|PMID:28825694|PMID:28873162|PMID:28947108|PMID:29077208|PMID:29146883|PMID:29156497|PMID:29588856|PMID:29724903|PMID:29797310|PMID:29882021|PMID:29906362|PMID:30190467|PMID:30578959|PMID:30620726|PMID:30894283|PMID:31035956|PMID:31106410|PMID:31256854|PMID:31309983|PMID:31340620|PMID:31350183|PMID:31710708|PMID:31732620|PMID:31958074|PMID:32088370|PMID:32098966|PMID:32135276|PMID:32497548|PMID:32555368|PMID:32682923|PMID:32888943|PMID:32914014|PMID:33363905|PMID:33370941|PMID:33417088|PMID:33510405|PMID:33560389|PMID:33684095|PMID:33715335|PMID:34051752|PMID:4508672|PMID:453969|PMID:8701948|PMID:9536098 12149578 GATA2 GATA binding protein 2 gene DOID:1222 cartilage disease ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20707411 12149578 GATA2 GATA binding protein 2 gene DOID:12449 aplastic anemia ISO RGD:734291 D RGD:9068941 20200609 RGD mRNA:decreased expression:CD34+ cell PMID:11328281|REF_RGD_ID:11049519 12149578 GATA2 GATA binding protein 2 gene DOID:1596 depressive disorder ISO RGD:734291 D RGD:9068941 20200609 RGD PMID:25340772|REF_RGD_ID:11049534 12149578 GATA2 GATA binding protein 2 gene DOID:2349 arteriosclerosis ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 12149578 GATA2 GATA binding protein 2 gene DOID:2355 anemia ISO RGD:734291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868|PMID:28492532 12149578 GATA2 GATA binding protein 2 gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:734291 D RGD:9068941 20210716 RGD PMID:25230694|REF_RGD_ID:149735195 12149578 GATA2 GATA binding protein 2 gene DOID:4977 lymphedema ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892158 12149578 GATA2 GATA binding protein 2 gene DOID:630 genetic disease ISO RGD:734291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12149578 GATA2 GATA binding protein 2 gene DOID:865 vasculitis ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 12149578 GATA2 GATA binding protein 2 gene DOID:8692 myeloid leukemia disease_progression ISO RGD:734291 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L359V PMID:19304323|REF_RGD_ID:11049517 12149578 GATA2 GATA binding protein 2 gene DOID:9002514 Neointima ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 12149578 GATA2 GATA binding protein 2 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20707411 12149578 GATA2 GATA binding protein 2 gene DOID:9002720 Splenomegaly ISO RGD:734291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Enlarged Spleen PMID:25741868|PMID:28492532 12149578 GATA2 GATA binding protein 2 gene DOID:9004771 Vascular Remodeling ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 12149578 GATA2 GATA binding protein 2 gene DOID:9005724 Fungal Lung Diseases ISO RGD:2664 D RGD:9068941 20200609 RGD associated with Pneumocystis Infections PMID:16774119|REF_RGD_ID:9587813 12149578 GATA2 GATA binding protein 2 gene DOID:9006709 Primary Graft Dysfunction ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 12149578 GATA2 GATA binding protein 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734291 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22533337|PMID:24754962|PMID:25741868|PMID:26445707|PMID:28492532|PMID:28873162|PMID:29797310|PMID:33715335 12149578 GATA2 GATA binding protein 2 gene DOID:9008217 Hemorrhage ISO RGD:69110 D RGD:9068941 20200609 RGD PMID:22996665|REF_RGD_ID:11049511 12149578 GATA2 GATA binding protein 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20707411 12149578 GATA2 GATA binding protein 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:734291 D RGD:7240710 20230505 OMIM 12149578 GATA2 GATA binding protein 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:734291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:16199547|PMID:17576681|PMID:18250304|PMID:19449416|PMID:20040766|PMID:20803646|PMID:21242295|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21816832|PMID:21892158|PMID:21892162|PMID:21956389|PMID:22147895|PMID:22271902|PMID:22430350|PMID:22533337|PMID:22996659|PMID:2322343|PMID:23223431|PMID:23365458|PMID:23443460|PMID:23502222|PMID:23560626|PMID:23563236|PMID:23728141|PMID:24033149|PMID:24033266|PMID:24077845|PMID:24167460|PMID:24227816|PMID:24266605|PMID:24345756|PMID:24359037|PMID:24514424|PMID:24578498|PMID:24728327|PMID:24754962|PMID:24782121|PMID:25239263|PMID:25326637|PMID:25359990|PMID:2543925|PMID:25619630|PMID:25624456|PMID:25676417|PMID:25741868|PMID:25879889|PMID:25955867|PMID:26022708|PMID:26214525|PMID:26264606|PMID:26445707|PMID:26492932|PMID:26702063|PMID:26710799|PMID:26716079|PMID:26748574|PMID:26767875|PMID:26812071|PMID:27013649|PMID:27232273|PMID:27266944|PMID:27288520|PMID:27375010|PMID:27416790|PMID:27418648|PMID:27577878|PMID:27680514|PMID:27799394|PMID:27876779|PMID:27894982|PMID:27924436|PMID:28066994|PMID:28104920|PMID:28126493|PMID:28209719|PMID:28234738|PMID:28259234|PMID:28271814|PMID:28373026|PMID:28440875|PMID:28485484|PMID:28492532|PMID:28602958|PMID:28642594|PMID:28747912|PMID:28825694|PMID:28873162|PMID:28947108|PMID:29146883|PMID:29146900|PMID:29156497|PMID:29178327|PMID:29189513|PMID:29230432|PMID:29279357|PMID:29365323|PMID:29588856|PMID:29680795|PMID:29724903|PMID:29797310|PMID:29882021|PMID:29906362|PMID:29947977|PMID:30030275|PMID:30190467|PMID:30280306|PMID:30564229|PMID:30578959|PMID:30620726|PMID:30697248|PMID:30802360|PMID:30894283|PMID:31035956|PMID:31106410|PMID:31203817|PMID:31245276|PMID:31256854|PMID:31309983|PMID:31340620|PMID:31350183|PMID:31710708|PMID:31732620|PMID:31785092|PMID:31958074|PMID:32088370|PMID:32098966|PMID:32135276|PMID:32488879|PMID:32497548|PMID:32555368|PMID:32682923|PMID:32865708|PMID:32888943|PMID:32914014|PMID:33363905|PMID:33370941|PMID:33417088|PMID:33510405|PMID:33560389|PMID:33684095|PMID:33715335|PMID:33759087|PMID:33957466|PMID:34051752|PMID:4508672|PMID:453969|PMID:8701948|PMID:9536098 12149578 GATA2 GATA binding protein 2 gene DOID:9119 acute myeloid leukemia ISO RGD:734291 D RGD:7240710 20230505 OMIM 12149578 GATA2 GATA binding protein 2 gene DOID:9119 acute myeloid leukemia ISO RGD:734291 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to PMID:20040766|PMID:21242295|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21892158|PMID:21892162|PMID:22147895|PMID:22271902|PMID:22533337|PMID:23223431|PMID:23365458|PMID:23502222|PMID:24077845|PMID:24227816|PMID:24266605|PMID:24345756|PMID:24728327|PMID:25239263|PMID:25359990|PMID:25676417|PMID:25741868|PMID:25879889|PMID:26264606|PMID:26492932|PMID:26702063|PMID:26748574|PMID:26812071|PMID:27266944|PMID:27288520|PMID:27418648|PMID:27577878|PMID:28104920|PMID:28440875|PMID:28492532|PMID:28747912|PMID:28947108|PMID:29146883|PMID:29365323|PMID:29588856|PMID:29724903|PMID:29882021|PMID:30578959|PMID:30894283|PMID:31035956|PMID:31106410|PMID:31256854|PMID:31340620|PMID:31350183|PMID:32098966|PMID:32135276|PMID:33363905|PMID:33417088|PMID:33510405|PMID:4508672|PMID:8701948 12149578 GATA2 GATA binding protein 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:734291 D RGD:9068941 20200609 RGD PMID:22786876|PMID:25241285|REF_RGD_ID:11049510|REF_RGD_ID:11049515 12149578 GATA2 GATA binding protein 2 gene DOID:9270 alkaptonuria ISO RGD:734291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12149589 B3GNT6 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 gene DOID:1059 intellectual disability ISO RGD:1601928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12149589 B3GNT6 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 gene DOID:630 genetic disease ISO RGD:1601928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149589 B3GNT6 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1601928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 12149593 NECAP1 NECAP endocytosis associated 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1603669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12149593 NECAP1 NECAP endocytosis associated 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1603669 D RGD:7240710 20180130 OMIM 12149593 NECAP1 NECAP endocytosis associated 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1603669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:17576681|PMID:24399846|PMID:25558065|PMID:25741868|PMID:28492532|PMID:30525121|PMID:30626896|PMID:9536098 12149593 NECAP1 NECAP endocytosis associated 1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1603669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12149593 NECAP1 NECAP endocytosis associated 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1603669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12149593 NECAP1 NECAP endocytosis associated 1 gene DOID:0111621 Temtamy syndrome ISO RGD:1603669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12149593 NECAP1 NECAP endocytosis associated 1 gene DOID:1826 epilepsy ISO RGD:1603669 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12149593 NECAP1 NECAP endocytosis associated 1 gene DOID:630 genetic disease ISO RGD:1603669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12149593 NECAP1 NECAP endocytosis associated 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12149605 EXTL1 exostosin like glycosyltransferase 1 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1319981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 12149605 EXTL1 exostosin like glycosyltransferase 1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1319981 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12149605 EXTL1 exostosin like glycosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1319981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149605 EXTL1 exostosin like glycosyltransferase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12149626 DFFA DNA fragmentation factor subunit alpha gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12149626 DFFA DNA fragmentation factor subunit alpha gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606338 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12149626 DFFA DNA fragmentation factor subunit alpha gene DOID:0111936 immunodeficiency 14 ISO RGD:1606338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 12149626 DFFA DNA fragmentation factor subunit alpha gene DOID:630 genetic disease ISO RGD:1606338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149636 NUTM1 NUT midline carcinoma family member 1 gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:1605553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 PMID:18458017|PMID:27125413|PMID:28492532 12149636 NUTM1 NUT midline carcinoma family member 1 gene DOID:2717 Bloom syndrome ISO RGD:1605553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12149636 NUTM1 NUT midline carcinoma family member 1 gene DOID:630 genetic disease ISO RGD:1605553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149636 NUTM1 NUT midline carcinoma family member 1 gene DOID:9256 colorectal cancer ISO RGD:1605553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12149699 TOR1A torsin family 1 member A gene DOID:0050836 focal dystonia ISO RGD:1615931 D RGD:9068941 20220825 MouseDO 12149699 TOR1A torsin family 1 member A gene DOID:0060730 torsion dystonia 1 ISO RGD:1345813 D RGD:7240710 20180130 OMIM 12149699 TOR1A torsin family 1 member A gene DOID:0060730 torsion dystonia 1 ISO RGD:1345813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia 1, torsion, autosomal dominant | ClinVar Annotator: match by term: Dystonia-1, torsion PMID:11523564|PMID:12391338|PMID:12391355|PMID:12402271|PMID:17503336|PMID:18477710|PMID:18519876|PMID:19955557|PMID:24033266|PMID:24930953|PMID:24931141|PMID:25741868|PMID:27168150|PMID:27477622|PMID:28492532|PMID:30244176|PMID:32243914|PMID:34008892|PMID:34298581|PMID:9288096 12149699 TOR1A torsin family 1 member A gene DOID:0070073 autosomal dominant intellectual developmental disorder 43 ISO RGD:1345813 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 43 PMID:25741868|PMID:30244176|PMID:34008892 12149699 TOR1A torsin family 1 member A gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1345813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12149699 TOR1A torsin family 1 member A gene DOID:0080047 pseudoachondroplasia ISO RGD:1345813 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome PMID:25741868 12149699 TOR1A torsin family 1 member A gene DOID:0080981 arthrogryposis multiplex congenita-5 ISO RGD:1345813 D RGD:7240710 20200812 OMIM 12149699 TOR1A torsin family 1 member A gene DOID:0080981 arthrogryposis multiplex congenita-5 ISO RGD:1345813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 5 PMID:11523564|PMID:17503336|PMID:18519876|PMID:18827015|PMID:25741868|PMID:28492532|PMID:28516161|PMID:29053766|PMID:30244176|PMID:34008892|PMID:9288096 12149699 TOR1A torsin family 1 member A gene DOID:543 dystonia ISO RGD:1345813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonia 1 | ClinVar Annotator: match by term: Dystonic disorder PMID:11523564|PMID:12391338|PMID:12391355|PMID:12402271|PMID:17503336|PMID:17576681|PMID:18477710|PMID:18519876|PMID:19955557|PMID:24033266|PMID:24930953|PMID:24931141|PMID:25741868|PMID:27168150|PMID:27477622|PMID:28166811|PMID:28492532|PMID:30244176|PMID:32243914|PMID:34008892|PMID:34298581|PMID:9288096|PMID:9536098 12149699 TOR1A torsin family 1 member A gene DOID:630 genetic disease ISO RGD:1345813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18827015|PMID:28166811|PMID:28492532|PMID:28516161|PMID:9536098 12149699 TOR1A torsin family 1 member A gene DOID:9005539 Familial Prostate Cancer ISO RGD:1345813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12149699 TOR1A torsin family 1 member A gene DOID:9006836 Contracture ISO RGD:1345813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 12149708 CCDC22 coiled-coil domain containing 22 gene DOID:0060565 Ritscher-Schinzel syndrome ISO RGD:1352329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12149708 CCDC22 coiled-coil domain containing 22 gene DOID:0060571 Ritscher-Schinzel syndrome 1 ISO RGD:1352329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 PMID:19377476|PMID:21826058|PMID:24916641|PMID:31971710 12149708 CCDC22 coiled-coil domain containing 22 gene DOID:0060572 Ritscher-Schinzel syndrome 2 ISO RGD:1352329 D RGD:7240710 20180130 OMIM 12149708 CCDC22 coiled-coil domain containing 22 gene DOID:0060572 Ritscher-Schinzel syndrome 2 ISO RGD:1352329 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 2 PMID:19377476|PMID:21826058|PMID:23563313|PMID:24916641|PMID:25644381|PMID:25741868|PMID:28492532|PMID:31971710 12149708 CCDC22 coiled-coil domain containing 22 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12149708 CCDC22 coiled-coil domain containing 22 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1352329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12149708 CCDC22 coiled-coil domain containing 22 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1352329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:19471859|PMID:28492532|PMID:30443250 12149708 CCDC22 coiled-coil domain containing 22 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1352329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12149708 CCDC22 coiled-coil domain containing 22 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1352329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12149708 CCDC22 coiled-coil domain containing 22 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1352329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12149708 CCDC22 coiled-coil domain containing 22 gene DOID:1059 intellectual disability ISO RGD:1352329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12149708 CCDC22 coiled-coil domain containing 22 gene DOID:12849 autistic disorder ISO RGD:1352329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12149708 CCDC22 coiled-coil domain containing 22 gene DOID:630 genetic disease ISO RGD:1352329 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21826058|PMID:23563313|PMID:24916641|PMID:25741868|PMID:28492532 12149730 SDHAF3 succinate dehydrogenase complex assembly factor 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12149730 SDHAF3 succinate dehydrogenase complex assembly factor 3 gene DOID:630 genetic disease ISO RGD:1313002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149745 LOC100686571 zinc finger protein 558 gene DOID:12849 autistic disorder ISO RGD:1348018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12149745 LOC100686571 zinc finger protein 558 gene DOID:630 genetic disease ISO RGD:1348018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149756 JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:1909 melanoma ISO RGD:1313400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 12149756 JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:6039 uveal melanoma ISO RGD:1313400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 12149756 JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:630 genetic disease ISO RGD:1313400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149756 JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:8923 skin melanoma ISO RGD:1313400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 12149756 JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 12149756 JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1313400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 12149756 JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:9003566 Mesothelioma ISO RGD:1313400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 12149756 JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:9008939 Breast Neoplasms ISO RGD:1313400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 12149772 MTMR3 myotubularin related protein 3 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1343929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 12149772 MTMR3 myotubularin related protein 3 gene DOID:630 genetic disease ISO RGD:1343929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149772 MTMR3 myotubularin related protein 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1343929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:21876083|PMID:24713400|PMID:28492532 12149814 MIR543 microRNA mir-543 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:2313004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 12149814 MIR543 microRNA mir-543 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:2313004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12149814 MIR543 microRNA mir-543 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:2313004 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30710498 12149814 MIR543 microRNA mir-543 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:2313004 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30710498 12149825 TEX13D TEX13 family member D gene DOID:12849 autistic disorder ISO RGD:10449326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12149912 KICS2 KICSTOR subunit 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1603179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12149919 CFH complement factor H gene DOID:0060746 basal laminar drusen ISO RGD:1353869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basal laminar drusen | ClinVar Annotator: match by term: DRUSEN, EARLY ADULT-ONSET, GROUPED PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:14978182|PMID:15761120|PMID:15761121|PMID:15761122|PMID:15870199|PMID:15895326|PMID:16229850|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:16621965|PMID:16630992|PMID:16710702|PMID:16787919|PMID:16816528|PMID:16936733|PMID:17018561|PMID:17076561|PMID:17079491|PMID:17198853|PMID:17210858|PMID:17241667|PMID:17293598|PMID:17360715|PMID:17396242|PMID:17398321|PMID:17472578|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252232|PMID:18252712|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20301541|PMID:20513133|PMID:20660596|PMID:21317894|PMID:21415311|PMID:21670343|PMID:21909106|PMID:21930971|PMID:21979047|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:22594991|PMID:22669321|PMID:23307876|PMID:23431077|PMID:23852337|PMID:23870792|PMID:24036949|PMID:24333077|PMID:24498017|PMID:24847005|PMID:25006455|PMID:25037630|PMID:25188723|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26501415|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29511899|PMID:29686068|PMID:29888403|PMID:30560448|PMID:31447099|PMID:33519811|PMID:34189567|PMID:8072530|PMID:9536098|PMID:9811382 12149919 CFH complement factor H gene DOID:0060746 basal laminar drusen susceptibility ISO RGD:1353869 D RGD:7240710 20230517 OMIM 12149919 CFH complement factor H gene DOID:0080162 lupus nephritis ISO RGD:1353869 D RGD:9068941 20200609 RGD PMID:22171659|REF_RGD_ID:5684551 12149919 CFH complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30560448|PMID:31447099|PMID:33519811|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786 12149919 CFH complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353869 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30560448|PMID:31447099|PMID:33519811|PMID:34189567|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786 12149919 CFH complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353869 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:14978182|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30560448|PMID:31447099|PMID:33519811|PMID:34189567|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786 12149919 CFH complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353869 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:14978182|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17076561|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20301541|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30560448|PMID:31447099|PMID:33519811|PMID:34189567|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786 12149919 CFH complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353869 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:14978182|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17076561|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20301541|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:24906858|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26501415|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30295827|PMID:30560448|PMID:31447099|PMID:32185379|PMID:33519811|PMID:34189567|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786 12149919 CFH complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:14978182|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17076561|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20301541|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23307876|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:24847005|PMID:24906858|PMID:25006455|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26501415|PMID:26559391|PMID:26826462|PMID:27572114|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29686068|PMID:29888403|PMID:30295827|PMID:30560448|PMID:31447099|PMID:32185379|PMID:33519811|PMID:34189567|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786 12149919 CFH complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome susceptibility ISO RGD:1353869 D RGD:7240710 20230517 OMIM 12149919 CFH complement factor H gene DOID:0080600 COVID-19 severity ISO RGD:1353869 D RGD:9068941 20200813 RGD DNA:SNP: : PMID:32747830|REF_RGD_ID:38500238 12149919 CFH complement factor H gene DOID:0110017 age related macular degeneration 4 ISO RGD:1353869 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 4 PMID:10577907|PMID:10762557|PMID:11158219|PMID:11978762|PMID:12424708|PMID:12697737|PMID:15761120|PMID:15761121|PMID:15761122|PMID:15870199|PMID:15895326|PMID:16229850|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:16630992|PMID:16710702|PMID:16787919|PMID:16816528|PMID:16936732|PMID:16936733|PMID:17018561|PMID:17076561|PMID:17079491|PMID:17198853|PMID:17210858|PMID:17241667|PMID:17293598|PMID:17360715|PMID:17396242|PMID:17398321|PMID:17472578|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252232|PMID:18252712|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20301541|PMID:20660596|PMID:21317894|PMID:21415311|PMID:21670343|PMID:21909106|PMID:21930971|PMID:21979047|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:24906858|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26501415|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30295827|PMID:30560448|PMID:31447099|PMID:32185379|PMID:33519811|PMID:34189567|PMID:8072530|PMID:9536098|PMID:9811382 12149919 CFH complement factor H gene DOID:0110017 age related macular degeneration 4 susceptibility ISO RGD:1353869 D RGD:7240710 20230517 OMIM 12149919 CFH complement factor H gene DOID:0111101 maturity-onset diabetes of the young type 5 ISO RGD:1353869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renal cysts and diabetes syndrome PMID:25741868 12149919 CFH complement factor H gene DOID:10976 membranous glomerulonephritis ISO RGD:620428 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus PMID:12911541|REF_RGD_ID:1599888 12149919 CFH complement factor H gene DOID:11335 sarcoidosis susceptibility ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.Y402H(human) PMID:23497844|REF_RGD_ID:7365014 12149919 CFH complement factor H gene DOID:12030 panuveitis susceptibility ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.Y402H(human) PMID:23497844|REF_RGD_ID:7365014 12149919 CFH complement factor H gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:mutations, polymorphisms:promoter, exon:multiple PMID:14583443|REF_RGD_ID:11041164 12149919 CFH complement factor H gene DOID:12554 hemolytic-uremic syndrome ISO RGD:733427 D RGD:9068941 20220825 MouseDO OMIM:235400 | OMIM:612922 | OMIM:612923 | OMIM:612924 | OMIM:612925 | OMIM:612926 12149919 CFH complement factor H gene DOID:12574 posterior uveitis susceptibility ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.Y402H(human) PMID:23497844|REF_RGD_ID:7365014 12149919 CFH complement factor H gene DOID:1287 cardiovascular system disease ISO RGD:1353869 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:SNP: :rs1410996(human) PMID:23296223|REF_RGD_ID:7365023 12149919 CFH complement factor H gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1353869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:15870199|PMID:16299065|PMID:17089378|PMID:17947292|PMID:18252712|PMID:19259132|PMID:21909106|PMID:25741868|PMID:28492532|PMID:8072530 12149919 CFH complement factor H gene DOID:13603 obstructive jaundice ISO RGD:620428 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:20132852|REF_RGD_ID:7364952 12149919 CFH complement factor H gene DOID:1407 anterior uveitis ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :rs800292 (human) PMID:22714898|REF_RGD_ID:7411695 12149919 CFH complement factor H gene DOID:1540 parathyroid carcinoma ISO RGD:1353869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12149919 CFH complement factor H gene DOID:1686 glaucoma ISO RGD:1353869 D RGD:9068941 20200609 RGD protein:decreased expression:retina: PMID:20484586|REF_RGD_ID:7364950 12149919 CFH complement factor H gene DOID:1749 squamous cell carcinoma ISO RGD:1353869 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:23938460|REF_RGD_ID:8662319 12149919 CFH complement factor H gene DOID:2377 multiple sclerosis no_association ISO RGD:1353869 D RGD:9068941 20200609 RGD PMID:21618592|REF_RGD_ID:5684555 12149919 CFH complement factor H gene DOID:2527 nephrosis ISO RGD:620428 D RGD:9068941 20200609 RGD protein:altered expression:kidney: PMID:22815489|REF_RGD_ID:7364901 12149919 CFH complement factor H gene DOID:2569 retinal drusen ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:mutations:multiple: PMID:22491393|REF_RGD_ID:7365010 12149919 CFH complement factor H gene DOID:2569 retinal drusen susceptibility ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNPs: :p.Y402H, rs1410996(human) PMID:18936151|REF_RGD_ID:7365005 12149919 CFH complement factor H gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1353869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis | ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis, type II PMID:32581362 12149919 CFH complement factor H gene DOID:2921 glomerulonephritis ISO RGD:733427 D RGD:9068941 20200609 RGD PMID:17344423|REF_RGD_ID:7365002 12149919 CFH complement factor H gene DOID:3454 brain infarction treatment ISO RGD:1353869 D RGD:9068941 20200609 RGD PMID:21695352|REF_RGD_ID:5508764 12149919 CFH complement factor H gene DOID:4448 macular degeneration ISO RGD:1353869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular degeneration 12149919 CFH complement factor H gene DOID:4448 macular degeneration disease_progression ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.Y402H(human) PMID:17456821|REF_RGD_ID:7364999 12149919 CFH complement factor H gene DOID:4448 macular degeneration no_association ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNP: :rs1061170 (Y402H)(human) PMID:16710702|REF_RGD_ID:7365035 12149919 CFH complement factor H gene DOID:4448 macular degeneration susceptibility ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNP: :rs1061170(human) PMID:23362846|REF_RGD_ID:7365022 12149919 CFH complement factor H gene DOID:4448 macular degeneration susceptibility ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNP: :rs1410996(human) PMID:23534868|REF_RGD_ID:7365021 12149919 CFH complement factor H gene DOID:4448 macular degeneration susceptibility ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.Y402H(human) PMID:16379025|PMID:16877387|REF_RGD_ID:7365034|REF_RGD_ID:7365036 12149919 CFH complement factor H gene DOID:5327 retinal detachment no_association ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Y402H (rs1061170) PMID:18515590|REF_RGD_ID:7411726 12149919 CFH complement factor H gene DOID:5327 retinal detachment susceptibility ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNP, missense mutation:promoter, cds:g.-257C>T, p.I62V (rs3753394, rs800292) PMID:18515590|REF_RGD_ID:7411726 12149919 CFH complement factor H gene DOID:557 kidney disease ISO RGD:1353869 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:11158219|PMID:12424708|PMID:12697737|PMID:16338962|PMID:16601698|PMID:17018561|PMID:18235085|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:21317894|PMID:22019782|PMID:22410797|PMID:23431077|PMID:24036949|PMID:24498017|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26826462|PMID:28492532|PMID:29410599|PMID:29500241|PMID:29888403|PMID:31447099 12149919 CFH complement factor H gene DOID:576 proteinuria ISO RGD:620428 D RGD:9068941 20200609 RGD protein:altered expression:kidney: PMID:22815489|REF_RGD_ID:7364901 12149919 CFH complement factor H gene DOID:612 primary immunodeficiency disease ISO RGD:1353869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14978182 12149919 CFH complement factor H gene DOID:630 genetic disease ISO RGD:1353869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12149919 CFH complement factor H gene DOID:670 amphetamine abuse ISO RGD:1353869 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22871478|REF_RGD_ID:7364944 12149919 CFH complement factor H gene DOID:670 amphetamine abuse ISO RGD:620428 D RGD:9068941 20200609 RGD protein:increased expression:serum, hippocampus: PMID:22871478|REF_RGD_ID:7364944 12149919 CFH complement factor H gene DOID:784 chronic kidney disease ISO RGD:1353869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 12149919 CFH complement factor H gene DOID:8466 retinal degeneration ISO RGD:620428 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:21467172|REF_RGD_ID:7364947 12149919 CFH complement factor H gene DOID:8893 psoriasis severity ISO RGD:1353869 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:2973157|REF_RGD_ID:8662318 12149919 CFH complement factor H gene DOID:8947 diabetic retinopathy ISO RGD:1353869 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:SNP: :rs1410996(human) PMID:23296223|REF_RGD_ID:7365023 12149919 CFH complement factor H gene DOID:8947 diabetic retinopathy ISO RGD:1353869 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:SNP: :rs800292(human) PMID:23864767|REF_RGD_ID:7365019 12149919 CFH complement factor H gene DOID:9000169 Systemic Inflammatory Response Syndrome ISO RGD:1353869 D RGD:9068941 20200609 RGD PMID:20351616|REF_RGD_ID:5684556 12149919 CFH complement factor H gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:1353869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombotic microangiopathy PMID:25741868|PMID:26283675|PMID:28492532 12149919 CFH complement factor H gene DOID:9000989 Pneumococcal Infections ISO RGD:733427 D RGD:9068941 20210319 RGD PMID:26802141|REF_RGD_ID:108019050 12149919 CFH complement factor H gene DOID:9000989 Pneumococcal Infections exacerbates ISO RGD:1353869 D RGD:9068941 20210319 RGD PMID:26802141|REF_RGD_ID:108019050 12149919 CFH complement factor H gene DOID:9001044 Choroidal Neovascularization ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNPs:cds:p.Y402H,I62V(human) PMID:22536038|REF_RGD_ID:7365031 12149919 CFH complement factor H gene DOID:9001044 Choroidal Neovascularization ISO RGD:1353869 D RGD:9068941 20200609 RGD associated with myopia;DNA:SNP: :rs1061170(human) PMID:22678500|REF_RGD_ID:7365030 12149919 CFH complement factor H gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:1353869 D RGD:9068941 20200609 RGD PMID:23258212|REF_RGD_ID:7364943 12149919 CFH complement factor H gene DOID:9001708 Hemorrhagic Shock ISO RGD:620428 D RGD:9068941 20200609 RGD PMID:15973109|REF_RGD_ID:7364990 12149919 CFH complement factor H gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:1353869 D RGD:9068941 20200609 RGD PMID:18403050|PMID:18496585|REF_RGD_ID:11041173|REF_RGD_ID:7364987 12149919 CFH complement factor H gene DOID:9002159 Liver Reperfusion Injury ISO RGD:620428 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver,plasma: PMID:19212187|REF_RGD_ID:7364958 12149919 CFH complement factor H gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1353869 D RGD:9068941 20200609 RGD PMID:19212187|REF_RGD_ID:7364958 12149919 CFH complement factor H gene DOID:9002457 Experimental Arthritis ISO RGD:733427 D RGD:9068941 20200609 RGD PMID:19828624|REF_RGD_ID:5684557 12149919 CFH complement factor H gene DOID:9002676 Cerebral Hemorrhage severity ISO RGD:1353869 D RGD:9068941 20200609 RGD PMID:21871809|REF_RGD_ID:5684553 12149919 CFH complement factor H gene DOID:9003092 Glomerulonephritis with Isolated C3 Deposits and Factor H Deficiency ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNPs,Haplotype:: PMID:17517971|REF_RGD_ID:7364995 12149919 CFH complement factor H gene DOID:9003092 Glomerulonephritis with Isolated C3 Deposits and Factor H Deficiency ISO RGD:733427 D RGD:9068941 20200609 RGD PMID:17517971|REF_RGD_ID:7364995 12149919 CFH complement factor H gene DOID:9004009 Reperfusion Injury ISO RGD:620428 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:17263982|REF_RGD_ID:7364988 12149919 CFH complement factor H gene DOID:9004484 Sepsis ISO RGD:620428 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:20132852|REF_RGD_ID:7364952 12149919 CFH complement factor H gene DOID:9004484 Sepsis treatment ISO RGD:1353869 D RGD:9068941 20200609 RGD PMID:19009024|REF_RGD_ID:7364986 12149919 CFH complement factor H gene DOID:9004484 Sepsis treatment ISO RGD:1353869 D RGD:9068941 20200609 RGD associated with Jaundice,Obstructive; PMID:20132852|REF_RGD_ID:7364952 12149919 CFH complement factor H gene DOID:9004663 Intestinal Ischemia ISO RGD:620428 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:17263982|REF_RGD_ID:7364988 12149919 CFH complement factor H gene DOID:9005036 Bacteremia ISO RGD:1353869 D RGD:9068941 20200609 RGD associated with Meningococcal Infections; PMID:22104107|REF_RGD_ID:7364945 12149919 CFH complement factor H gene DOID:9005377 Complement Factor H Deficiency ISO RGD:1353869 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: C3 GLOMERULOPATHY 1 | ClinVar Annotator: match by term: Factor H deficiency PMID:10206995|PMID:10577907|PMID:10762557|PMID:10803850|PMID:10975323|PMID:11158219|PMID:11978762|PMID:12424708|PMID:12697737|PMID:14978182|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17076561|PMID:17947292|PMID:18235085|PMID:18252712|PMID:19259132|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20301541|PMID:21317894|PMID:21909106|PMID:22019782|PMID:22410797|PMID:23431077|PMID:24036949|PMID:24498017|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26826462|PMID:28492532|PMID:29410599|PMID:29500241|PMID:2950269|PMID:2966809|PMID:29888403|PMID:31447099|PMID:34189567|PMID:7742208|PMID:8072530|PMID:9811382 12149919 CFH complement factor H gene DOID:9005377 Complement Factor H Deficiency susceptibility ISO RGD:1353869 D RGD:7240710 20230517 OMIM 12149919 CFH complement factor H gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:620428 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:20538296|REF_RGD_ID:7364948 12149919 CFH complement factor H gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1353869 D RGD:9068941 20200609 RGD PMID:20538296|REF_RGD_ID:7364948 12149919 CFH complement factor H gene DOID:9007096 Stroke ISO RGD:620428 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:21695352|REF_RGD_ID:5508764 12149919 CFH complement factor H gene DOID:9007189 Multifocal Choroiditis ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNPs, missense mutation:introns, cds:multiple PMID:19001225|REF_RGD_ID:7411728 12149919 CFH complement factor H gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12149919 CFH complement factor H gene DOID:9008366 Meningococcal Infections ISO RGD:1353869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20694013 12149919 CFH complement factor H gene DOID:9008366 Meningococcal Infections exacerbates ISO RGD:1353869 D RGD:9068941 20210319 RGD PMID:19047406|REF_RGD_ID:108019051 12149919 CFH complement factor H gene DOID:9008366 Meningococcal Infections treatment ISO RGD:1353869 D RGD:9068941 20200609 RGD PMID:25143339|REF_RGD_ID:11041174 12149919 CFH complement factor H gene DOID:9008537 Polypoidal Choroidal Vasculopathy no_association ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Y402H (rs1061170) (human) PMID:18515590|REF_RGD_ID:7411726 12149919 CFH complement factor H gene DOID:9008537 Polypoidal Choroidal Vasculopathy susceptibility ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNP, missense mutation:promoter, cds:g.-257C>T, p.I62V (rs3753394, rs800292) (human) PMID:18515590|REF_RGD_ID:7411726 12149919 CFH complement factor H gene DOID:9008867 C3 Glomerulopathy 3 ISO RGD:1353869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II PMID:11158219|PMID:11978762|PMID:12424708|PMID:12697737|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26501415|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30560448|PMID:31447099|PMID:33519811|PMID:8072530|PMID:9536098 12149919 CFH complement factor H gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1353869 D RGD:9068941 20200609 RGD PMID:21637784|REF_RGD_ID:5684554 12149919 CFH complement factor H gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12149945 IGFBP1 insulin like growth factor binding protein 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:69038 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12619036 12149945 IGFBP1 insulin like growth factor binding protein 1 gene DOID:11713 diabetic angiopathy ISO RGD:69038 D RGD:9068941 20200609 RGD DNA:SNPs PMID:16306374|REF_RGD_ID:1625238 12149945 IGFBP1 insulin like growth factor binding protein 1 gene DOID:12236 primary biliary cholangitis ISO RGD:69038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 12149945 IGFBP1 insulin like growth factor binding protein 1 gene DOID:1612 breast cancer ISO RGD:69038 D RGD:9068941 20200609 RGD protein:decreased expression:serum:in patients with breast cancer versus benign breast disease (p=0.001) PMID:10069662|REF_RGD_ID:2301715 12149945 IGFBP1 insulin like growth factor binding protein 1 gene DOID:1612 breast cancer no_association ISO RGD:69038 D RGD:9068941 20200609 RGD higher serum expression in cases vs controls but association not significant in multivariate analysis PMID:17287408|REF_RGD_ID:2301716 12149945 IGFBP1 insulin like growth factor binding protein 1 gene DOID:289 endometriosis ISO RGD:69038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12149945 IGFBP1 insulin like growth factor binding protein 1 gene DOID:3021 acute kidney failure ISO RGD:69038 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7540432 12149945 IGFBP1 insulin like growth factor binding protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12149945 IGFBP1 insulin like growth factor binding protein 1 gene DOID:5082 liver cirrhosis ISO RGD:69038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 12149945 IGFBP1 insulin like growth factor binding protein 1 gene DOID:630 genetic disease ISO RGD:69038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12149945 IGFBP1 insulin like growth factor binding protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:69038 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 12149945 IGFBP1 insulin like growth factor binding protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 12149945 IGFBP1 insulin like growth factor binding protein 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69038 D RGD:9068941 20200609 RGD DNA:SNPs PMID:16306374|REF_RGD_ID:1625238 12149945 IGFBP1 insulin like growth factor binding protein 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:69038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12149945 IGFBP1 insulin like growth factor binding protein 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:69038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12149945 IGFBP1 insulin like growth factor binding protein 1 gene DOID:9005930 Endotoxemia ISO RGD:2872 D RGD:9068941 20200609 RGD PMID:12217886|REF_RGD_ID:625688 12149945 IGFBP1 insulin like growth factor binding protein 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:69038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15805072 12149945 IGFBP1 insulin like growth factor binding protein 1 gene DOID:9007730 Burns ISO RGD:2872 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney, liver PMID:10827012|REF_RGD_ID:12910869 12149953 COL9A1 collagen type IX alpha 1 chain gene DOID:0050717 methylmalonic aciduria and homocystinuria type cblF ISO RGD:1298223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF PMID:19136951|PMID:21303734|PMID:28492532 12149953 COL9A1 collagen type IX alpha 1 chain gene DOID:0070301 multiple epiphyseal dysplasia 6 ISO RGD:1298223 D RGD:7240710 20180130 OMIM 12149953 COL9A1 collagen type IX alpha 1 chain gene DOID:0070301 multiple epiphyseal dysplasia 6 ISO RGD:1298223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 6 PMID:11565064|PMID:16199547|PMID:16909383|PMID:17576681|PMID:21421862|PMID:25741868|PMID:26467025|PMID:27959697|PMID:28492532|PMID:9536098 12149953 COL9A1 collagen type IX alpha 1 chain gene DOID:10003 sensorineural hearing loss ISO RGD:1298223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 12149953 COL9A1 collagen type IX alpha 1 chain gene DOID:11830 myopia ISO RGD:1298223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16909383 12149953 COL9A1 collagen type IX alpha 1 chain gene DOID:12721 multiple epiphyseal dysplasia ISO RGD:1298223 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant PMID:28492532 12149953 COL9A1 collagen type IX alpha 1 chain gene DOID:14323 Marfan syndrome ISO RGD:1298223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 12149953 COL9A1 collagen type IX alpha 1 chain gene DOID:2256 osteochondrodysplasia ISO RGD:1298223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11565064|PMID:16909383 12149953 COL9A1 collagen type IX alpha 1 chain gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:1298223 D RGD:9068941 20200609 RGD DNA:mutation PMID:11565064|REF_RGD_ID:1600949 12149953 COL9A1 collagen type IX alpha 1 chain gene DOID:5679 retinal disease ISO RGD:1298223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16909383 12149953 COL9A1 collagen type IX alpha 1 chain gene DOID:630 genetic disease ISO RGD:1298223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:16909383|PMID:21421862|PMID:25741868|PMID:28492532 12149953 COL9A1 collagen type IX alpha 1 chain gene DOID:65 connective tissue disease ISO RGD:1298223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:16909383|PMID:17576681|PMID:21421862|PMID:24036952|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:9536098 12149953 COL9A1 collagen type IX alpha 1 chain gene DOID:8398 osteoarthritis ISO RGD:1319762 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 12149953 COL9A1 collagen type IX alpha 1 chain gene DOID:9001539 Stickler Syndrome, Type IV ISO RGD:1298223 D RGD:7240710 20180130 OMIM 12149953 COL9A1 collagen type IX alpha 1 chain gene DOID:9001539 Stickler Syndrome, Type IV ISO RGD:1298223 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Stickler Syndrome, Recessive | ClinVar Annotator: match by term: Stickler syndrome, type 4 PMID:16199547|PMID:16909383|PMID:20301479|PMID:21421862|PMID:23967202|PMID:25741868|PMID:27959697|PMID:28492532 12149953 COL9A1 collagen type IX alpha 1 chain gene DOID:9004538 Hearing Loss ISO RGD:1298223 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24036952|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386 12149997 DLL3 delta like canonical Notch ligand 3 gene DOID:0050568 spondylocostal dysostosis ISO RGD:735462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 12149997 DLL3 delta like canonical Notch ligand 3 gene DOID:0060249 scoliosis ISO RGD:735462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17849441 12149997 DLL3 delta like canonical Notch ligand 3 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:735462 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12149997 DLL3 delta like canonical Notch ligand 3 gene DOID:0112365 spondylocostal dysostosis 1 ISO RGD:735462 D RGD:7240710 20180704 OMIM 12149997 DLL3 delta like canonical Notch ligand 3 gene DOID:0112365 spondylocostal dysostosis 1 ISO RGD:735462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive PMID:10742114|PMID:12746394|PMID:12791036|PMID:15200511|PMID:15717203|PMID:17041936|PMID:18485326|PMID:25741868|PMID:2805381|PMID:28492532|PMID:29459493 12149997 DLL3 delta like canonical Notch ligand 3 gene DOID:11193 syndactyly ISO RGD:735462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Syndactyly PMID:15717203|PMID:17041936|PMID:18485326|PMID:25741868|PMID:28492532|PMID:29459493 12149997 DLL3 delta like canonical Notch ligand 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:735462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12149997 DLL3 delta like canonical Notch ligand 3 gene DOID:1342 congenital hypoplastic anemia ISO RGD:735462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12149997 DLL3 delta like canonical Notch ligand 3 gene DOID:1934 dysostosis ISO RGD:735462 D RGD:9068941 20200609 RGD DNA:nonsense mutations, missense mutation PMID:10742114|REF_RGD_ID:1599775 12149997 DLL3 delta like canonical Notch ligand 3 gene DOID:2256 osteochondrodysplasia ISO RGD:735462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11146471 12149997 DLL3 delta like canonical Notch ligand 3 gene DOID:2340 craniosynostosis ISO RGD:735462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12149997 DLL3 delta like canonical Notch ligand 3 gene DOID:3069 malignant astrocytoma ISO RGD:735462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 12149997 DLL3 delta like canonical Notch ligand 3 gene DOID:630 genetic disease ISO RGD:735462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12149997 DLL3 delta like canonical Notch ligand 3 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:735462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12149997 DLL3 delta like canonical Notch ligand 3 gene DOID:9005835 Congenital Abnormalities ISO RGD:735462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17849441 12149997 DLL3 delta like canonical Notch ligand 3 gene DOID:9006006 Spondylocostal Dysostosis, Autosomal Recessive ISO RGD:735462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12149997 DLL3 delta like canonical Notch ligand 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17849441 12149997 DLL3 delta like canonical Notch ligand 3 gene DOID:9009169 LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA ISO RGD:735462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia PMID:25741868|PMID:28492532 12149997 DLL3 delta like canonical Notch ligand 3 gene DOID:9269 maple syrup urine disease ISO RGD:735462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12149997 DLL3 delta like canonical Notch ligand 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735462 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12150007 C30H15orf61 chromosome 30 C15orf61 homolog gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:2302457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12150007 C30H15orf61 chromosome 30 C15orf61 homolog gene DOID:2717 Bloom syndrome ISO RGD:2302457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12150007 C30H15orf61 chromosome 30 C15orf61 homolog gene DOID:630 genetic disease ISO RGD:2302457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150007 C30H15orf61 chromosome 30 C15orf61 homolog gene DOID:9256 colorectal cancer ISO RGD:2302457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12150013 DNAJB12 DnaJ heat shock protein family (Hsp40) member B12 gene DOID:630 genetic disease ISO RGD:1348292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150037 OR4D1 olfactory receptor family 4 subfamily D member 1 gene DOID:0050777 Joubert syndrome ISO RGD:1346867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12150037 OR4D1 olfactory receptor family 4 subfamily D member 1 gene DOID:1059 intellectual disability ISO RGD:1346867 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12150037 OR4D1 olfactory receptor family 4 subfamily D member 1 gene DOID:630 genetic disease ISO RGD:1346867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150048 SERINC2 serine incorporator 2 gene DOID:630 genetic disease ISO RGD:1322836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150076 MPST mercaptopyruvate sulfurtransferase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:735977 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12150076 MPST mercaptopyruvate sulfurtransferase gene DOID:0090036 myoclonic dystonia 26 ISO RGD:735977 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12150076 MPST mercaptopyruvate sulfurtransferase gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:735977 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12150076 MPST mercaptopyruvate sulfurtransferase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735977 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12150076 MPST mercaptopyruvate sulfurtransferase gene DOID:1909 melanoma ISO RGD:735977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25205294 12150076 MPST mercaptopyruvate sulfurtransferase gene DOID:630 genetic disease ISO RGD:735977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150076 MPST mercaptopyruvate sulfurtransferase gene DOID:9352 type 2 diabetes mellitus ISO RGD:620065 D RGD:9068941 20200609 RGD PMID:20127051|REF_RGD_ID:5134362 12150082 PIGF phosphatidylinositol glycan anchor biosynthesis class F gene DOID:3883 Lynch syndrome ISO RGD:1351645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12150082 PIGF phosphatidylinositol glycan anchor biosynthesis class F gene DOID:630 genetic disease ISO RGD:1351645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150082 PIGF phosphatidylinositol glycan anchor biosynthesis class F gene DOID:9001770 ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME ISO RGD:1351645 D RGD:7240710 20210818 OMIM 12150082 PIGF phosphatidylinositol glycan anchor biosynthesis class F gene DOID:9001770 ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME ISO RGD:1351645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome PMID:33386993 12150082 PIGF phosphatidylinositol glycan anchor biosynthesis class F gene DOID:9004904 SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES ISO RGD:1351645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies PMID:27250922 12150102 CSTPP1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1604290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12150102 CSTPP1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1604290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 12150102 CSTPP1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 gene DOID:1059 intellectual disability ISO RGD:1604290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12150102 CSTPP1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1604290 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12150116 SLC35F5 solute carrier family 35 member F5 gene DOID:630 genetic disease ISO RGD:1317716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150137 RPS19 ribosomal protein S19 gene DOID:0081137 agammaglobulinemia 3 ISO RGD:68661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive PMID:28492532 12150137 RPS19 ribosomal protein S19 gene DOID:0111895 Diamond-Blackfan anemia 1 ISO RGD:68661 D RGD:7240710 20180606 OMIM 12150137 RPS19 ribosomal protein S19 gene DOID:0111895 Diamond-Blackfan anemia 1 ISO RGD:68661 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 PMID:10590074|PMID:10598818|PMID:10753603|PMID:11112378|PMID:12586610|PMID:12750732|PMID:15384984|PMID:16159874|PMID:17053056|PMID:17082006|PMID:17517689|PMID:17726054|PMID:18412286|PMID:18768533|PMID:20378560|PMID:20395159|PMID:20606162|PMID:20960466|PMID:23812780|PMID:24033266|PMID:24675553|PMID:24952648|PMID:25741868|PMID:27329125|PMID:28102861|PMID:28376382|PMID:28492532|PMID:31574871|PMID:33718801|PMID:9988267 12150137 RPS19 ribosomal protein S19 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:68661 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:10590074|PMID:10598818|PMID:10753603|PMID:11112378|PMID:12586610|PMID:12750732|PMID:15059149|PMID:15075082|PMID:15384984|PMID:15523650|PMID:16159874|PMID:16199547|PMID:17053056|PMID:17082006|PMID:17376718|PMID:17517689|PMID:17576681|PMID:17726054|PMID:18217898|PMID:18412286|PMID:18768533|PMID:19689926|PMID:20378560|PMID:20395159|PMID:20603584|PMID:20606162|PMID:20960466|PMID:22045982|PMID:22262766|PMID:22381658|PMID:22783360|PMID:23349008|PMID:24033266|PMID:24675553|PMID:24952648|PMID:25042156|PMID:25132370|PMID:25381059|PMID:25703294|PMID:25741868|PMID:25946618|PMID:26136524|PMID:26604301|PMID:27329125|PMID:27882484|PMID:28102861|PMID:28376382|PMID:28492532|PMID:29114930|PMID:29766597|PMID:30503522|PMID:31574871|PMID:33718801|PMID:35923690|PMID:36321656|PMID:3769971|PMID:9536098|PMID:9988267 12150137 RPS19 ribosomal protein S19 gene DOID:1342 congenital hypoplastic anemia ISO RGD:68661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12150137 RPS19 ribosomal protein S19 gene DOID:2340 craniosynostosis ISO RGD:68661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12150137 RPS19 ribosomal protein S19 gene DOID:5419 schizophrenia ISO RGD:68661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12150137 RPS19 ribosomal protein S19 gene DOID:687 hepatoblastoma ISO RGD:68661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:12586610|PMID:25741868|PMID:28492532 12150137 RPS19 ribosomal protein S19 gene DOID:9000217 Stomach Neoplasms ISO RGD:68661 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12150137 RPS19 ribosomal protein S19 gene DOID:9000918 Disease Progression ISO RGD:68661 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12150137 RPS19 ribosomal protein S19 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68661 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12150137 RPS19 ribosomal protein S19 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:68661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12150137 RPS19 ribosomal protein S19 gene DOID:9269 maple syrup urine disease ISO RGD:68661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12150147 PICALM phosphatidylinositol binding clathrin assembly protein gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:732553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 12150147 PICALM phosphatidylinositol binding clathrin assembly protein gene DOID:1059 intellectual disability ISO RGD:732553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12150147 PICALM phosphatidylinositol binding clathrin assembly protein gene DOID:10652 Alzheimer's disease ISO RGD:732553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19734902|PMID:21460841 12150147 PICALM phosphatidylinositol binding clathrin assembly protein gene DOID:630 genetic disease ISO RGD:732553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150147 PICALM phosphatidylinositol binding clathrin assembly protein gene DOID:9002775 Cognitive Dysfunction ISO RGD:732553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30503753 12150147 PICALM phosphatidylinositol binding clathrin assembly protein gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:732553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12150147 PICALM phosphatidylinositol binding clathrin assembly protein gene DOID:9119 acute myeloid leukemia ISO RGD:732553 D RGD:7240710 20180130 OMIM 12150147 PICALM phosphatidylinositol binding clathrin assembly protein gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:732553 D RGD:9068941 20200609 RGD DNA:inversion: :inv(11)(q14q23) PMID:12461747|REF_RGD_ID:1600760 12150205 PLCB4 phospholipase C beta 4 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 12150205 PLCB4 phospholipase C beta 4 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:733727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 12150205 PLCB4 phospholipase C beta 4 gene DOID:10283 prostate cancer ISO RGD:733727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12150205 PLCB4 phospholipase C beta 4 gene DOID:1909 melanoma ISO RGD:733727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 12150205 PLCB4 phospholipase C beta 4 gene DOID:2843 long QT syndrome ISO RGD:733727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12150205 PLCB4 phospholipase C beta 4 gene DOID:6039 uveal melanoma ISO RGD:733727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uveal melanoma PMID:31186267 12150205 PLCB4 phospholipase C beta 4 gene DOID:630 genetic disease ISO RGD:733727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16114046|PMID:22560091|PMID:23315542|PMID:25741868|PMID:31186267|PMID:31395954|PMID:33258288 12150205 PLCB4 phospholipase C beta 4 gene DOID:9000208 Auriculocondylar Syndrome ISO RGD:733727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Auriculocondylar syndrome PMID:16114046|PMID:22560091|PMID:23315542 12150205 PLCB4 phospholipase C beta 4 gene DOID:9002492 Auriculocondylar Syndrome 1 ISO RGD:733727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Auriculocondylar syndrome 1 PMID:16114046|PMID:18314001|PMID:22560091|PMID:23315542 12150205 PLCB4 phospholipase C beta 4 gene DOID:9006036 Auriculocondylar Syndrome 2 ISO RGD:733727 D RGD:7240710 20180130 OMIM 12150205 PLCB4 phospholipase C beta 4 gene DOID:9006036 Auriculocondylar Syndrome 2 ISO RGD:733727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Auriculocondylar syndrome 2 PMID:16114046|PMID:18314001|PMID:18680186|PMID:18686566|PMID:19152421|PMID:22286465|PMID:22560091|PMID:23315542|PMID:25741868|PMID:28492532|PMID:31186267|PMID:31395954|PMID:33258288 12150205 PLCB4 phospholipase C beta 4 gene DOID:9245 Alagille syndrome ISO RGD:733727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532|PMID:32733715 12150253 TSNAXIP1 translin associated factor X interacting protein 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1348366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12150253 TSNAXIP1 translin associated factor X interacting protein 1 gene DOID:10283 prostate cancer ISO RGD:1348366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12150253 TSNAXIP1 translin associated factor X interacting protein 1 gene DOID:630 genetic disease ISO RGD:1348366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150278 MRTFA myocardin related transcription factor A gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1312564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12150278 MRTFA myocardin related transcription factor A gene DOID:0111998 immunodeficiency 66 ISO RGD:1312564 D RGD:7240710 20200429 OMIM 12150278 MRTFA myocardin related transcription factor A gene DOID:0111998 immunodeficiency 66 ISO RGD:1312564 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency 66 PMID:25741868|PMID:26224645|PMID:27479822|PMID:28492532 12150278 MRTFA myocardin related transcription factor A gene DOID:630 genetic disease ISO RGD:1312564 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150278 MRTFA myocardin related transcription factor A gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1312564 D RGD:9068941 20200609 RGD PMID:11431691|REF_RGD_ID:1599948 12150297 MGAT4B alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1602226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 12150297 MGAT4B alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1602226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12150297 MGAT4B alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B gene DOID:0112103 Sotos syndrome 1 ISO RGD:1602226 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12150297 MGAT4B alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B gene DOID:630 genetic disease ISO RGD:1602226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150316 SQSTM1 sequestosome 1 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:736484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:11473345|PMID:11992264|PMID:12374763|PMID:14584883|PMID:15125799|PMID:15146436|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16199547|PMID:16691492|PMID:16813535|PMID:17120186|PMID:17129171|PMID:17181397|PMID:17188686|PMID:17229007|PMID:17229008|PMID:17576681|PMID:18543015|PMID:18765443|PMID:19049332|PMID:19257822|PMID:19589897|PMID:20200946|PMID:20499339|PMID:21073987|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:22491873|PMID:22972638|PMID:23117207|PMID:23303844|PMID:23417734|PMID:23447461|PMID:23612225|PMID:23812289|PMID:23820649|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24486447|PMID:24642144|PMID:24899140|PMID:25241215|PMID:25382069|PMID:25433461|PMID:25512523|PMID:25664955|PMID:25681989|PMID:25708934|PMID:25741868|PMID:25796131|PMID:25852467|PMID:26208961|PMID:26412716|PMID:26467025|PMID:26601740|PMID:26627873|PMID:26713335|PMID:26836416|PMID:26925868|PMID:27158844|PMID:27163810|PMID:27275741|PMID:27545679|PMID:27554286|PMID:27594680|PMID:27631370|PMID:28003435|PMID:28430856|PMID:28492532|PMID:28642336|PMID:28709720|PMID:29411640|PMID:29457785|PMID:29525180|PMID:29599744|PMID:29895397|PMID:29959261|PMID:30120248|PMID:30154079|PMID:30638816|PMID:30679323|PMID:30842500|PMID:31434890|PMID:31859009|PMID:31914217|PMID:31996268|PMID:32028661|PMID:32385536|PMID:32579787|PMID:33973882|PMID:34020145|PMID:34307757|PMID:9536098 12150316 SQSTM1 sequestosome 1 gene DOID:0080718 GNE myopathy ISO RGD:736484 D RGD:7240710 20190315 OMIM 12150316 SQSTM1 sequestosome 1 gene DOID:0080718 GNE myopathy ISO RGD:736484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with rimmed vacuoles PMID:12374763|PMID:17129171|PMID:23417734|PMID:25741868|PMID:26208961|PMID:26467025|PMID:26627873|PMID:28492532 12150316 SQSTM1 sequestosome 1 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:736484 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:22972638|PMID:23417734|PMID:23942205|PMID:25741868|PMID:25796131|PMID:28492532|PMID:29895397|PMID:31859009 12150316 SQSTM1 sequestosome 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:736484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12150316 SQSTM1 sequestosome 1 gene DOID:0110068 frontotemporal dementia and/or amyotrophic lateral sclerosis-3 ISO RGD:736484 D RGD:7240710 20180130 OMIM 12150316 SQSTM1 sequestosome 1 gene DOID:0110068 frontotemporal dementia and/or amyotrophic lateral sclerosis-3 ISO RGD:736484 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FTDALS3 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 PMID:11473345|PMID:11992264|PMID:14584883|PMID:15125799|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16691492|PMID:16813535|PMID:17181397|PMID:17229007|PMID:17229008|PMID:18543015|PMID:18765443|PMID:19257822|PMID:19589897|PMID:20200946|PMID:20499339|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:22972638|PMID:23417734|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24486447|PMID:24899140|PMID:25241215|PMID:25741868|PMID:25796131|PMID:26412716|PMID:26467025|PMID:26627873|PMID:26713335|PMID:27275741|PMID:27594680|PMID:28003435|PMID:28430856|PMID:28492532|PMID:29457785|PMID:29525180|PMID:29599744|PMID:30154079|PMID:30842500 12150316 SQSTM1 sequestosome 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:736484 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12150316 SQSTM1 sequestosome 1 gene DOID:10763 hypertension ISO RGD:69287 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:23499735|REF_RGD_ID:11561939 12150316 SQSTM1 sequestosome 1 gene DOID:1686 glaucoma ISO RGD:69287 D RGD:9068941 20200609 RGD protein:increased expression:optic nerve PMID:24136224|REF_RGD_ID:13782046 12150316 SQSTM1 sequestosome 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease PMID:11473345|PMID:11992264|PMID:15125799|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16813535|PMID:17229007|PMID:18543015|PMID:18765443|PMID:19257822|PMID:19589897|PMID:20499339|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:23417734|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24899140|PMID:25241215|PMID:25741868|PMID:26627873|PMID:26713335|PMID:27275741|PMID:27594680|PMID:28430856|PMID:28492532|PMID:29457785|PMID:29599744|PMID:30154079|PMID:32579787 12150316 SQSTM1 sequestosome 1 gene DOID:4448 macular degeneration ISO RGD:736484 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23922739 12150316 SQSTM1 sequestosome 1 gene DOID:5408 Paget's disease of bone ISO RGD:736484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bone Paget disease | ClinVar Annotator: match by term: Paget disease of bone, familial PMID:11473345|PMID:11992264|PMID:15125799|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16813535|PMID:17229007|PMID:18543015|PMID:18765443|PMID:19257822|PMID:19589897|PMID:20499339|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:23417734|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24899140|PMID:25241215|PMID:25741868|PMID:26627873|PMID:26713335|PMID:27275741|PMID:27594680|PMID:28430856|PMID:28492532|PMID:29457785|PMID:29599744|PMID:30154079 12150316 SQSTM1 sequestosome 1 gene DOID:630 genetic disease ISO RGD:736484 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17129171|PMID:17188686|PMID:19049332|PMID:22084127|PMID:23812289|PMID:24042580|PMID:24486447|PMID:24899140|PMID:25741868|PMID:26467025|PMID:26601740|PMID:28492532|PMID:31434890 12150316 SQSTM1 sequestosome 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:736484 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 12150316 SQSTM1 sequestosome 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:69287 D RGD:9068941 20200609 RGD protein:decreased expression:basal ganglion PMID:23884876|REF_RGD_ID:11561935 12150316 SQSTM1 sequestosome 1 gene DOID:9003060 Paget Disease of Bone 2, Early-Onset ISO RGD:736484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paget disease of bone 2, early-onset PMID:11473345|PMID:11992264|PMID:15125799|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16813535|PMID:17229007|PMID:18543015|PMID:18765443|PMID:19257822|PMID:19589897|PMID:20499339|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:23417734|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24899140|PMID:25241215|PMID:25681989|PMID:25741868|PMID:25796131|PMID:26467025|PMID:26627873|PMID:26713335|PMID:27275741|PMID:27594680|PMID:28430856|PMID:28492532|PMID:29457785|PMID:29599744|PMID:30154079|PMID:30679323 12150316 SQSTM1 sequestosome 1 gene DOID:9005240 Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy ISO RGD:736484 D RGD:7240710 20190315 OMIM 12150316 SQSTM1 sequestosome 1 gene DOID:9005240 Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy ISO RGD:736484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset PMID:15146436|PMID:21073987|PMID:22491873|PMID:23117207|PMID:25741868|PMID:26467025|PMID:27545679|PMID:28492532|PMID:29959261 12150316 SQSTM1 sequestosome 1 gene DOID:9005587 Starvation ISO RGD:736484 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26483381 12150316 SQSTM1 sequestosome 1 gene DOID:9007946 Paget Disease of Bone 3 ISO RGD:736484 D RGD:7240710 20190327 OMIM 12150316 SQSTM1 sequestosome 1 gene DOID:9007946 Paget Disease of Bone 3 ISO RGD:736484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paget disease of bone 3 PMID:11473345|PMID:11992264|PMID:12374763|PMID:15125799|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16813535|PMID:17129171|PMID:17188686|PMID:17229007|PMID:18543015|PMID:18765443|PMID:19257822|PMID:19589897|PMID:20499339|PMID:21073987|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:22972638|PMID:23303844|PMID:23417734|PMID:23447461|PMID:23612225|PMID:23812289|PMID:23820649|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24486447|PMID:24899140|PMID:25241215|PMID:25382069|PMID:25433461|PMID:25512523|PMID:25681989|PMID:25741868|PMID:25796131|PMID:25852467|PMID:26208961|PMID:26467025|PMID:26627873|PMID:26713335|PMID:26836416|PMID:27163810|PMID:27275741|PMID:27545679|PMID:27594680|PMID:28430856|PMID:28492532|PMID:29457785|PMID:29599744|PMID:29959261|PMID:30154079|PMID:30679323|PMID:31859009|PMID:32385536 12150316 SQSTM1 sequestosome 1 gene DOID:9923 developmental coordination disorder ISO RGD:736484 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:32773031 12150326 FNIP1 folliculin interacting protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606476 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12150326 FNIP1 folliculin interacting protein 1 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1606476 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 12150326 FNIP1 folliculin interacting protein 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1606476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 12150326 FNIP1 folliculin interacting protein 1 gene DOID:5419 schizophrenia ISO RGD:1606476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12150326 FNIP1 folliculin interacting protein 1 gene DOID:630 genetic disease ISO RGD:1606476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12150326 FNIP1 folliculin interacting protein 1 gene DOID:9001635 Immunodeficiency 93 ISO RGD:1606476 D RGD:7240710 20220202 OMIM 12150326 FNIP1 folliculin interacting protein 1 gene DOID:9001635 Immunodeficiency 93 ISO RGD:1606476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 93 and hypertrophic cardiomyopathy PMID:32181500|PMID:32905580 12150326 FNIP1 folliculin interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12150326 FNIP1 folliculin interacting protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606476 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12150358 MC4R melanocortin 4 receptor gene DOID:0050572 cone-rod dystrophy ISO RGD:733058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive PMID:10903341|PMID:12499395|PMID:12690102|PMID:16507637|PMID:16611215|PMID:18559663|PMID:23791567|PMID:25741868|PMID:25741869|PMID:30004997 12150358 MC4R melanocortin 4 receptor gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:733058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868 12150358 MC4R melanocortin 4 receptor gene DOID:0060842 isolated microphthalmia 3 ISO RGD:733058 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 12150358 MC4R melanocortin 4 receptor gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:735526 D RGD:9068941 20220825 MouseDO 12150358 MC4R melanocortin 4 receptor gene DOID:0111988 immunodeficiency 12 ISO RGD:733058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 12150358 MC4R melanocortin 4 receptor gene DOID:11446 sciatic neuropathy ISO RGD:3057 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglia (rat) PMID:21985621|REF_RGD_ID:6484557 12150358 MC4R melanocortin 4 receptor gene DOID:11981 morbid obesity ISO RGD:733058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807|PMID:29311635 12150358 MC4R melanocortin 4 receptor gene DOID:11981 morbid obesity ISO RGD:733058 D RGD:9068941 20200609 RGD PMID:11443223|PMID:12588803|REF_RGD_ID:1600750|REF_RGD_ID:1600755 12150358 MC4R melanocortin 4 receptor gene DOID:2018 hyperinsulinism ISO RGD:733058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23251400 12150358 MC4R melanocortin 4 receptor gene DOID:5419 schizophrenia ISO RGD:733058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:10199800|PMID:10577903|PMID:12499395|PMID:12646665|PMID:12851297|PMID:12970296|PMID:15486053|PMID:16274851|PMID:16507637|PMID:16616374|PMID:16752916|PMID:18559663|PMID:18801902|PMID:19091795|PMID:19301229|PMID:20966905|PMID:25741868|PMID:29273807|PMID:29970488 12150358 MC4R melanocortin 4 receptor gene DOID:630 genetic disease ISO RGD:733058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150358 MC4R melanocortin 4 receptor gene DOID:9002211 Hyperalgesia ISO RGD:3057 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglia (rat) PMID:20081244|REF_RGD_ID:6484233 12150358 MC4R melanocortin 4 receptor gene DOID:9002916 Hyperphagia ISO RGD:733058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23251400 12150358 MC4R melanocortin 4 receptor gene DOID:9004713 Acute-Phase Reaction ISO RGD:3057 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:22183812|REF_RGD_ID:6484138 12150358 MC4R melanocortin 4 receptor gene DOID:9005930 Endotoxemia ISO RGD:3057 D RGD:9068941 20200609 RGD mRNA:increased expression:paraventricular nucleus (rat) PMID:21343543|REF_RGD_ID:6484214 12150358 MC4R melanocortin 4 receptor gene DOID:9007001 Bradycardia ISO RGD:3057 D RGD:9068941 20200609 RGD PMID:24400148|REF_RGD_ID:13825242 12150358 MC4R melanocortin 4 receptor gene DOID:9007346 Cachexia ISO RGD:735526 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:20371568|REF_RGD_ID:6484229 12150358 MC4R melanocortin 4 receptor gene DOID:9007633 Body Weight ISO RGD:733058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219|PMID:22344221 12150358 MC4R melanocortin 4 receptor gene DOID:9007692 Insulin Resistance ISO RGD:3057 D RGD:9068941 20210611 RGD DNA:nonsense mutation:cds:p.K314X (rat) PMID:24400148|REF_RGD_ID:13825242 12150358 MC4R melanocortin 4 receptor gene DOID:9007692 Insulin Resistance ISO RGD:733058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18454146 12150358 MC4R melanocortin 4 receptor gene DOID:9008953 Binge-Eating Disorder ISO RGD:733058 D RGD:9068941 20200609 RGD PMID:12646666|REF_RGD_ID:1600752 12150358 MC4R melanocortin 4 receptor gene DOID:9351 diabetes mellitus ISO RGD:733058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10078568|PMID:10199800|PMID:10592235|PMID:10903341|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12629567|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12970296|PMID:14764812|PMID:14973783|PMID:15037865|PMID:154889963|PMID:15585384|PMID:15805150|PMID:15975705|PMID:16030156|PMID:16032553|PMID:16094248|PMID:16274851|PMID:16469222|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:17286227|PMID:17306938|PMID:17517246|PMID:17519222|PMID:17579204|PMID:17628007|PMID:17986382|PMID:18559663|PMID:19091795|PMID:19179454|PMID:20462274|PMID:22106157|PMID:22492873|PMID:23146882|PMID:23251400|PMID:23505181|PMID:23791567|PMID:24611737|PMID:24890885|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26467025|PMID:27654141|PMID:28492532|PMID:29970488|PMID:31002796|PMID:9267995 12150358 MC4R melanocortin 4 receptor gene DOID:9452 fatty liver disease ISO RGD:735526 D RGD:9068941 20220825 MouseDO OMIM:228100 12150358 MC4R melanocortin 4 receptor gene DOID:9970 obesity ISO RGD:733058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, autosomal dominant PMID:10078568|PMID:10199800|PMID:10577903|PMID:10592235|PMID:10903341|PMID:10903343|PMID:11443223|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12588803|PMID:12629567|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12815165|PMID:12851297|PMID:12959994|PMID:12970296|PMID:14633862|PMID:14764812|PMID:14764818|PMID:14973783|PMID:15037865|PMID:15126516|PMID:15448103|PMID:15466016|PMID:15486053|PMID:15585384|PMID:15805150|PMID:15975705|PMID:16030156|PMID:16032553|PMID:16083993|PMID:16094248|PMID:16231025|PMID:16274851|PMID:16289450|PMID:16469222|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:16616374|PMID:16710097|PMID:16752916|PMID:16960181|PMID:17185898|PMID:17286227|PMID:17306938|PMID:17357083|PMID:17492953|PMID:17517246|PMID:17519222|PMID:17579204|PMID:17590021|PMID:17628007|PMID:17668051|PMID:17986382|PMID:18559663|PMID:18801902|PMID:18997677|PMID:19011902|PMID:19091795|PMID:19179454|PMID:19184404|PMID:19244934|PMID:19284607|PMID:19298524|PMID:19301229|PMID:19400288|PMID:19417090|PMID:19766264|PMID:19889825|PMID:20462274|PMID:20631012|PMID:20696697|PMID:20826565|PMID:20966905|PMID:20975296|PMID:21085626|PMID:21404042|PMID:22106157|PMID:22447289|PMID:22463805|PMID:22688572|PMID:23146882|PMID:23251400|PMID:23505181|PMID:23791567|PMID:24276017|PMID:24385306|PMID:24512492|PMID:24611737|PMID:24705671|PMID:24780838|PMID:24890885|PMID:25076858|PMID:25136332|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26047380|PMID:26179253|PMID:26238496|PMID:26244670|PMID:26467025|PMID:26588347|PMID:26666384|PMID:26782456|PMID:26788538|PMID:27222505|PMID:27654141|PMID:28166811|PMID:28492532|PMID:29273807|PMID:29311635|PMID:29758564|PMID:29861388|PMID:29970488|PMID:30048591|PMID:30811542|PMID:30926952|PMID:31002796|PMID:31118516|PMID:31841602|PMID:32534219|PMID:32952152|PMID:9267995 12150358 MC4R melanocortin 4 receptor gene DOID:9970 obesity ISO RGD:733058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, autosomal dominant PMID:10078568|PMID:10199800|PMID:10577903|PMID:10592235|PMID:10903341|PMID:10903343|PMID:11443223|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12588803|PMID:12629567|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12815165|PMID:12851297|PMID:12959994|PMID:12970296|PMID:14633862|PMID:14764812|PMID:14764818|PMID:14973783|PMID:15037865|PMID:15126516|PMID:15448103|PMID:15466016|PMID:15486053|PMID:15585384|PMID:15805150|PMID:15975705|PMID:16030156|PMID:16032553|PMID:16083993|PMID:16094248|PMID:16231025|PMID:16274851|PMID:16289450|PMID:16469222|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:16616374|PMID:16710097|PMID:16752916|PMID:16960181|PMID:17185898|PMID:17286227|PMID:17306938|PMID:17357083|PMID:17492953|PMID:17517246|PMID:17519222|PMID:17579204|PMID:17590021|PMID:17628007|PMID:17668051|PMID:17986382|PMID:18559663|PMID:18801902|PMID:18997677|PMID:19011902|PMID:19091795|PMID:19179454|PMID:19184404|PMID:19244934|PMID:19284607|PMID:19298524|PMID:19301229|PMID:19400288|PMID:19417090|PMID:19766264|PMID:19889825|PMID:20462274|PMID:20631012|PMID:20696697|PMID:20826565|PMID:20966905|PMID:20975296|PMID:21085626|PMID:21404042|PMID:22106157|PMID:22447289|PMID:22463805|PMID:22688572|PMID:23146882|PMID:23251400|PMID:23505181|PMID:23791567|PMID:24276017|PMID:24385306|PMID:24512492|PMID:24611737|PMID:24705671|PMID:24780838|PMID:24890885|PMID:25076858|PMID:25136332|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26047380|PMID:26179253|PMID:26238496|PMID:26244670|PMID:26467025|PMID:26588347|PMID:26666384|PMID:26782456|PMID:26788538|PMID:27222505|PMID:27654141|PMID:28492532|PMID:29273807|PMID:29311635|PMID:29758564|PMID:29861388|PMID:29970488|PMID:30048591|PMID:30811542|PMID:30926952|PMID:31002796|PMID:31118516|PMID:31841602|PMID:32534219|PMID:32952152|PMID:9267995 12150361 HSPB6 heat shock protein family B (small) member 6 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1343256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12150361 HSPB6 heat shock protein family B (small) member 6 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1343256 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12150361 HSPB6 heat shock protein family B (small) member 6 gene DOID:114 heart disease ISO RGD:1343256 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18948619 12150361 HSPB6 heat shock protein family B (small) member 6 gene DOID:543 dystonia ISO RGD:1343256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12150361 HSPB6 heat shock protein family B (small) member 6 gene DOID:630 genetic disease ISO RGD:1343256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150361 HSPB6 heat shock protein family B (small) member 6 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1343256 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18948619 12150368 TSHZ3 teashirt zinc finger homeobox 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1314877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27668656 12150368 TSHZ3 teashirt zinc finger homeobox 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1314878 D RGD:9068941 20220825 MouseDO 12150368 TSHZ3 teashirt zinc finger homeobox 3 gene DOID:10283 prostate cancer ISO RGD:1314877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12150368 TSHZ3 teashirt zinc finger homeobox 3 gene DOID:630 genetic disease ISO RGD:1314877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150368 TSHZ3 teashirt zinc finger homeobox 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12150374 ALS2CL ALS2 C-terminal like gene DOID:5419 schizophrenia ISO RGD:1605837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 12150374 ALS2CL ALS2 C-terminal like gene DOID:630 genetic disease ISO RGD:1605837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150374 ALS2CL ALS2 C-terminal like gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1605837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12150419 NACC1 nucleus accumbens associated 1 gene DOID:0050858 Marshall-Smith syndrome ISO RGD:732621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome PMID:20673863|PMID:23495138|PMID:25118028|PMID:25736188|PMID:26927468|PMID:27688808|PMID:28492532|PMID:29184170 12150419 NACC1 nucleus accumbens associated 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:732621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532|PMID:29184170 12150419 NACC1 nucleus accumbens associated 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:732621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12150419 NACC1 nucleus accumbens associated 1 gene DOID:0111254 glutaric acidemia I ISO RGD:732621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12150419 NACC1 nucleus accumbens associated 1 gene DOID:1059 intellectual disability ISO RGD:732621 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28492532 12150419 NACC1 nucleus accumbens associated 1 gene DOID:10907 microcephaly ISO RGD:732621 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12150419 NACC1 nucleus accumbens associated 1 gene DOID:14566 disease of cellular proliferation ISO RGD:732621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31101655 12150419 NACC1 nucleus accumbens associated 1 gene DOID:3413 alpha-mannosidosis ISO RGD:732621 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12150419 NACC1 nucleus accumbens associated 1 gene DOID:630 genetic disease ISO RGD:732621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28132692|PMID:28492532|PMID:31618753 12150419 NACC1 nucleus accumbens associated 1 gene DOID:9004290 Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination ISO RGD:732621 D RGD:7240710 20190315 OMIM 12150419 NACC1 nucleus accumbens associated 1 gene DOID:9004290 Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination ISO RGD:732621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination PMID:25741868|PMID:28132692|PMID:28492532 12150429 ASB18 ankyrin repeat and SOCS box containing 18 gene DOID:630 genetic disease ISO RGD:1602398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150429 ASB18 ankyrin repeat and SOCS box containing 18 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1602398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12150445 ZNF648 zinc finger protein 648 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1606465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12150445 ZNF648 zinc finger protein 648 gene DOID:1540 parathyroid carcinoma ISO RGD:1606465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12150445 ZNF648 zinc finger protein 648 gene DOID:630 genetic disease ISO RGD:1606465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150445 ZNF648 zinc finger protein 648 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1606465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12150445 ZNF648 zinc finger protein 648 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12150451 VASH1 vasohibin 1 gene DOID:1059 intellectual disability ISO RGD:1352548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12150451 VASH1 vasohibin 1 gene DOID:10762 portal hypertension disease_progression ISO RGD:1564082 D RGD:9068941 20200609 RGD PMID:24390792|REF_RGD_ID:15003198 12150451 VASH1 vasohibin 1 gene DOID:10762 portal hypertension treatment ISO RGD:1352548 D RGD:9068941 20200609 RGD PMID:24390792|REF_RGD_ID:15003198 12150451 VASH1 vasohibin 1 gene DOID:5082 liver cirrhosis ISO RGD:1352548 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic; protein:increased expression:liver PMID:24390792|REF_RGD_ID:15003198 12150451 VASH1 vasohibin 1 gene DOID:5082 liver cirrhosis treatment ISO RGD:1352548 D RGD:9068941 20200609 RGD PMID:24390792|REF_RGD_ID:15003198 12150451 VASH1 vasohibin 1 gene DOID:630 genetic disease ISO RGD:1352548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150468 TMEM203 transmembrane protein 203 gene DOID:0050777 Joubert syndrome ISO RGD:1605598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12150468 TMEM203 transmembrane protein 203 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1605598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12150468 TMEM203 transmembrane protein 203 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1605598 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12150468 TMEM203 transmembrane protein 203 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1605598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12150468 TMEM203 transmembrane protein 203 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1605598 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12150468 TMEM203 transmembrane protein 203 gene DOID:0081097 Rafiq syndrome ISO RGD:1605598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12150468 TMEM203 transmembrane protein 203 gene DOID:1826 epilepsy ISO RGD:1605598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12150468 TMEM203 transmembrane protein 203 gene DOID:630 genetic disease ISO RGD:1605598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150468 TMEM203 transmembrane protein 203 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1605598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12150482 ACTR8 actin related protein 8 gene DOID:630 genetic disease ISO RGD:1323563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150506 TAFA5 TAFA chemokine like family member 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1342880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984751|PMID:25255310 12150506 TAFA5 TAFA chemokine like family member 5 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1342880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12150506 TAFA5 TAFA chemokine like family member 5 gene DOID:1059 intellectual disability ISO RGD:1342880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12150528 TOM1 target of myb1 membrane trafficking protein gene DOID:0090063 familial cold autoinflammatory syndrome 2 ISO RGD:1317553 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 PMID:25741868 12150528 TOM1 target of myb1 membrane trafficking protein gene DOID:630 genetic disease ISO RGD:1317553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150528 TOM1 target of myb1 membrane trafficking protein gene DOID:9001304 Immunodeficiency 85 ISO RGD:1317553 D RGD:7240710 20210908 OMIM 12150528 TOM1 target of myb1 membrane trafficking protein gene DOID:9001304 Immunodeficiency 85 ISO RGD:1317553 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Immunodeficiency 85 and autoimmunity PMID:31263572 12150547 RAX retina and anterior neural fold homeobox gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1606797 D RGD:7240710 20180130 OMIM 12150547 RAX retina and anterior neural fold homeobox gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1606797 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19158959|PMID:19935664|PMID:20494911|PMID:21778431|PMID:22736936|PMID:24033328|PMID:25741868|PMID:26686525|PMID:28492532|PMID:30811539 12150547 RAX retina and anterior neural fold homeobox gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1606797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome 12150547 RAX retina and anterior neural fold homeobox gene DOID:0111988 immunodeficiency 12 ISO RGD:1606797 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 12150547 RAX retina and anterior neural fold homeobox gene DOID:1909 melanoma ISO RGD:1606797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 12150547 RAX retina and anterior neural fold homeobox gene DOID:630 genetic disease ISO RGD:1606797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12150547 RAX retina and anterior neural fold homeobox gene DOID:9002049 Anophthalmia ISO RGD:1606797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15789424 12150547 RAX retina and anterior neural fold homeobox gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1606797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15789424 12150553 MINAR1 membrane integral NOTCH2 associated receptor 1 gene DOID:2717 Bloom syndrome ISO RGD:1604043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12150553 MINAR1 membrane integral NOTCH2 associated receptor 1 gene DOID:630 genetic disease ISO RGD:1604043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150553 MINAR1 membrane integral NOTCH2 associated receptor 1 gene DOID:9256 colorectal cancer ISO RGD:1604043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12150572 RHOD ras homolog family member D gene DOID:1059 intellectual disability ISO RGD:1322195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12150572 RHOD ras homolog family member D gene DOID:630 genetic disease ISO RGD:1322195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150572 RHOD ras homolog family member D gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1322195 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12150572 RHOD ras homolog family member D gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1322195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12150581 CXHXorf66 chromosome X CXorf66 homolog gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12150581 CXHXorf66 chromosome X CXorf66 homolog gene DOID:12259 hemophilia B ISO RGD:1606098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary factor IX deficiency disease PMID:2198809|PMID:24375831|PMID:28492532|PMID:3029178|PMID:4045960|PMID:8304338 12150581 CXHXorf66 chromosome X CXorf66 homolog gene DOID:12849 autistic disorder ISO RGD:1606098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12150581 CXHXorf66 chromosome X CXorf66 homolog gene DOID:630 genetic disease ISO RGD:1606098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150592 LMTK3 lemur tyrosine kinase 3 gene DOID:1826 epilepsy ISO RGD:1351306 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12150592 LMTK3 lemur tyrosine kinase 3 gene DOID:630 genetic disease ISO RGD:1351306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150618 MIR335 microRNA mir-335 gene DOID:10534 stomach cancer severity ISO RGD:1350498 D RGD:9068941 20200609 RGD PMID:21822301|REF_RGD_ID:14394425 12150618 MIR335 microRNA mir-335 gene DOID:10591 pre-eclampsia ISO RGD:1350498 D RGD:9068941 20230128 RGD miRNA:decreased expression:blood serum (human) PMID:25017274|REF_RGD_ID:155882496 12150618 MIR335 microRNA mir-335 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12150618 MIR335 microRNA mir-335 gene DOID:4989 pancreatitis ISO RGD:1350498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12150618 MIR335 microRNA mir-335 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1350498 D RGD:9068941 20200609 RGD associated with stomach cancer; RNA:decreased expression:stomach PMID:21822301|REF_RGD_ID:14394425 12150618 MIR335 microRNA mir-335 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350498 D RGD:9068941 20200609 RGD lung metastasis PMID:21822301|REF_RGD_ID:14394425 12150618 MIR335 microRNA mir-335 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1350498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12150618 MIR335 microRNA mir-335 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12150618 MIR335 microRNA mir-335 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1350498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12150618 MIR335 microRNA mir-335 gene DOID:9256 colorectal cancer ISO RGD:1350498 D RGD:9068941 20220721 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12150618 MIR335 microRNA mir-335 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12150641 ZNF567 zinc finger protein 567 gene DOID:630 genetic disease ISO RGD:1346041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150785 MRPS30 mitochondrial ribosomal protein S30 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12150785 MRPS30 mitochondrial ribosomal protein S30 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12150785 MRPS30 mitochondrial ribosomal protein S30 gene DOID:630 genetic disease ISO RGD:1320179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150785 MRPS30 mitochondrial ribosomal protein S30 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12150794 CHRNA6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:0050742 nicotine dependence ISO RGD:733511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20418888 12150794 CHRNA6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:0060001 withdrawal disorder ISO RGD:733511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19644040 12150794 CHRNA6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:0090039 torsion dystonia 6 ISO RGD:733511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 12150794 CHRNA6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:0111959 immunodeficiency 15B ISO RGD:733511 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 12150794 CHRNA6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:630 genetic disease ISO RGD:733511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150794 CHRNA6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:9001310 Tobacco Use Disorder ISO RGD:733511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28851948 12150794 CHRNA6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:733511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 12150794 CHRNA6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:733511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 12150819 CPLANE2 ciliogenesis and planar polarity effector complex subunit 2 gene DOID:0050545 visceral heterotaxy ISO RGD:1618278 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 12150819 CPLANE2 ciliogenesis and planar polarity effector complex subunit 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603381 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12150819 CPLANE2 ciliogenesis and planar polarity effector complex subunit 2 gene DOID:14679 VACTERL association ISO RGD:1618278 D RGD:9068941 20220825 MouseDO OMIM:192350 | OMIM:276950 12150819 CPLANE2 ciliogenesis and planar polarity effector complex subunit 2 gene DOID:630 genetic disease ISO RGD:1603381 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150839 NODAL nodal growth differentiation factor gene DOID:0050545 visceral heterotaxy ISO RGD:1314354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral heterotaxy PMID:19064609|PMID:25741868|PMID:28492532 12150839 NODAL nodal growth differentiation factor gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1314354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 PMID:28492532 12150839 NODAL nodal growth differentiation factor gene DOID:1682 congenital heart disease ISO RGD:1314354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:19064609|PMID:25741868|PMID:31680349 12150839 NODAL nodal growth differentiation factor gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1314354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:19064609|PMID:25741868|PMID:28492532 12150839 NODAL nodal growth differentiation factor gene DOID:4621 holoprosencephaly ISO RGD:1314354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:19064609|PMID:19553149|PMID:22352765|PMID:24033266|PMID:25741868|PMID:28492532 12150839 NODAL nodal growth differentiation factor gene DOID:630 genetic disease ISO RGD:1314354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19064609|PMID:25741868|PMID:28492532 12150839 NODAL nodal growth differentiation factor gene DOID:758 situs inversus ISO RGD:1314354 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Situs inversus PMID:19064609|PMID:19553149|PMID:25741868 12150839 NODAL nodal growth differentiation factor gene DOID:769 neuroblastoma ISO RGD:1314354 D RGD:9068941 20220922 RGD mRNA:increased expression:neural tissue (human) PMID:30985990|REF_RGD_ID:155226876 12150839 NODAL nodal growth differentiation factor gene DOID:9002116 Congenitally Corrected Transposition of the Great Arteries ISO RGD:1314354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenitally corrected transposition of the great arteries PMID:25741868 12150839 NODAL nodal growth differentiation factor gene DOID:9007098 Pulmonary Atresia susceptibility ISO RGD:1314354 D RGD:9068941 20220922 RGD DNA:mutations PMID:19064609|REF_RGD_ID:11568370 12150839 NODAL nodal growth differentiation factor gene DOID:9008288 Visceral Heterotaxy 5, Autosomal ISO RGD:1314354 D RGD:7240710 20180130 OMIM 12150839 NODAL nodal growth differentiation factor gene DOID:9008288 Visceral Heterotaxy 5, Autosomal ISO RGD:1314354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal | ClinVar Annotator: match by term: NODAL-Related Disorders PMID:12447384|PMID:16199547|PMID:17576681|PMID:18579681|PMID:19064609|PMID:19553149|PMID:19933292|PMID:22352765|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29368431|PMID:9354794|PMID:9536098 12150845 HACD2 3-hydroxyacyl-CoA dehydratase 2 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1314901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12150845 HACD2 3-hydroxyacyl-CoA dehydratase 2 gene DOID:630 genetic disease ISO RGD:1314901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150845 HACD2 3-hydroxyacyl-CoA dehydratase 2 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1314901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:21055718|PMID:28492532|PMID:28602422 12150845 HACD2 3-hydroxyacyl-CoA dehydratase 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1314901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12150845 HACD2 3-hydroxyacyl-CoA dehydratase 2 gene DOID:9270 alkaptonuria ISO RGD:1314901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12150857 PGLS 6-phosphogluconolactonase gene DOID:11476 osteoporosis ISO RGD:1315936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12150857 PGLS 6-phosphogluconolactonase gene DOID:630 genetic disease ISO RGD:1315936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:0050746 mantle cell lymphoma ISO RGD:1603171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mantle cell lymphoma PMID:10706620 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:0050753 cerebellar ataxia ISO RGD:1603171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:29909963|PMID:9887333 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:0081042 T-cell prolymphocytic leukemia ISO RGD:1603171 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: T-cell prolymphocytic leukemia PMID:10817650|PMID:11382771|PMID:11805335|PMID:11830610|PMID:12195425|PMID:12552559|PMID:16958054|PMID:17001622|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:20301790|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22529920|PMID:22585167|PMID:22649200|PMID:24088041|PMID:24733792|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26506520|PMID:26556299|PMID:26633545|PMID:26662178|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29719442|PMID:29915382|PMID:30549301|PMID:31447099|PMID:31948886|PMID:32338768|PMID:32853339|PMID:33509806|PMID:6504056|PMID:7792600|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9537233 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:10534 stomach cancer ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:10330348|PMID:10397742|PMID:10416970|PMID:10706620|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11756177|PMID:12149228|PMID:12552559|PMID:12552566|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:15039971|PMID:15101044|PMID:15390180|PMID:16199547|PMID:16266405|PMID:16941484|PMID:17124347|PMID:17376192|PMID:17576681|PMID:17910737|PMID:17968022|PMID:18560558|PMID:18573109|PMID:18634022|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19691550|PMID:20153123|PMID:20301790|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21792198|PMID:21933854|PMID:22017321|PMID:22071889|PMID:22529920|PMID:22585167|PMID:22649200|PMID:23454770|PMID:23585524|PMID:23632773|PMID:23807571|PMID:25122203|PMID:25186627|PMID:25525159|PMID:25614872|PMID:25741868|PMID:26022348|PMID:26094658|PMID:26467025|PMID:26506520|PMID:26628246|PMID:26677768|PMID:26681312|PMID:27121310|PMID:27159176|PMID:27732944|PMID:27884168|PMID:27913932|PMID:28139868|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28724667|PMID:28767289|PMID:29482223|PMID:29600275|PMID:29665859|PMID:29667044|PMID:29752822|PMID:29906526|PMID:29909963|PMID:29922827|PMID:29946849|PMID:30093976|PMID:30287823|PMID:30549301|PMID:30607632|PMID:30620386|PMID:31050087|PMID:31118792|PMID:31139954|PMID:31263571|PMID:31691010|PMID:31784493|PMID:32002120|PMID:32068069|PMID:32471518|PMID:32694154|PMID:32754152|PMID:32810930|PMID:32918381|PMID:33280026|PMID:33436325|PMID:33471991|PMID:34873480|PMID:36988593|PMID:8698354|PMID:8755918|PMID:8808599|PMID:8845835|PMID:9334731|PMID:9443866|PMID:9488043|PMID:9536098|PMID:9872980|PMID:9887333 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:1059 intellectual disability ISO RGD:1603171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:26628246|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28188106|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34606182|PMID:34646395|PMID:34653963|PMID:35039564|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:9872980|PMID:9887333|PMID:9892178 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:26628246|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:26628246|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29141312|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31403082|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35186721|PMID:35201558|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29141312|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31403082|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35806449|PMID:35892882|PMID:35893033|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:14723 beta-ketothiolase deficiency ISO RGD:1603171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:28492532 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:1520 colon carcinoma ISO RGD:1603171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:17910737|PMID:19404735|PMID:20305132|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26901136|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28717660|PMID:28779002|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30613976|PMID:31159747|PMID:31742824|PMID:32522261|PMID:33471991|PMID:34262154|PMID:34646395 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:1612 breast cancer ISO RGD:1603171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14627829|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25326637|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27443514|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27978560|PMID:27988859|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28188106|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29415044|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30128536|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30814645|PMID:31050087|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31341520|PMID:31407689|PMID:31882575|PMID:31920950|PMID:31921681|PMID:32039725|PMID:32125938|PMID:32183364|PMID:32566746|PMID:32601921|PMID:32832836|PMID:32860008|PMID:32906206|PMID:33095795|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33558524|PMID:33747920|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9792409|PMID:9887333 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:1612 breast cancer ISO RGD:1603171 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14627829|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27443514|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29415044|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30128536|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30814645|PMID:31050087|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32832836|PMID:32853339|PMID:32860008|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33558524|PMID:33747920|PMID:33919281|PMID:34067464|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9887333 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:1612 breast cancer ISO RGD:1603171 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14627829|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27443514|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29415044|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:1612 breast cancer ISO RGD:1603171 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:35039564|PMID:35264596|PMID:35365198|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:1781 thyroid gland cancer ISO RGD:1603171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid cancer PMID:28492532 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:2394 ovarian cancer ISO RGD:1603171 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer PMID:10330348|PMID:11756185|PMID:12552559|PMID:17576681|PMID:21933854|PMID:22585167|PMID:23807571|PMID:25032865|PMID:25326635|PMID:25503501|PMID:25614872|PMID:25741868|PMID:26094658|PMID:26270727|PMID:26467025|PMID:26681312|PMID:28007021|PMID:28008555|PMID:28492532|PMID:30322717|PMID:30549301|PMID:31050087|PMID:8659541|PMID:9463314|PMID:9536098|PMID:9872980 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:2394 ovarian cancer ISO RGD:1603171 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:10330348|PMID:10817650|PMID:10873394|PMID:11756185|PMID:12552559|PMID:12935922|PMID:14706517|PMID:15756685|PMID:18634022|PMID:19781682|PMID:20305132|PMID:21665257|PMID:21933854|PMID:21993670|PMID:22585167|PMID:23807571|PMID:24728327|PMID:25326635|PMID:25503501|PMID:25614872|PMID:25741868|PMID:26094658|PMID:26270727|PMID:26467025|PMID:26530882|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26976419|PMID:28007021|PMID:28008555|PMID:28135145|PMID:28492532|PMID:28580595|PMID:28652578|PMID:28726808|PMID:28779002|PMID:29522266|PMID:29641532|PMID:29684080|PMID:30093976|PMID:30303537|PMID:30322717|PMID:30374176|PMID:30549301|PMID:31050087|PMID:31159747|PMID:31248605|PMID:31742824|PMID:31780696|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32107087|PMID:32936981|PMID:33471991|PMID:33552952|PMID:35245693|PMID:35264596|PMID:8659541|PMID:9443866|PMID:9463314|PMID:9872980 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:2871 endometrial carcinoma ISO RGD:1603171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:12810666|PMID:19781682|PMID:21787400|PMID:23555315|PMID:25741868|PMID:25980754|PMID:26787654|PMID:26837699|PMID:28492532|PMID:29659569|PMID:30651582|PMID:31159747|PMID:31920950|PMID:33436325|PMID:33558524 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:299 adenocarcinoma ISO RGD:1603171 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma PMID:10330348|PMID:10817650|PMID:10980530|PMID:12810666|PMID:15390180|PMID:16266405|PMID:17576681|PMID:20153123|PMID:22585167|PMID:25614872|PMID:25741868|PMID:26506520|PMID:27159176|PMID:28492532|PMID:36988593|PMID:9536098|PMID:9887333 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:3068 glioblastoma ISO RGD:1603171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:19781682|PMID:23322442|PMID:25525159|PMID:25741868|PMID:26467025|PMID:9054948 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:3070 high grade glioma ISO RGD:1603171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant glioma PMID:10330348|PMID:10817650|PMID:10980530|PMID:11298136|PMID:21445571|PMID:21459046|PMID:21792198|PMID:25741868|PMID:26681312|PMID:28492532|PMID:29478780|PMID:30549301|PMID:33471991|PMID:8659541|PMID:8808599|PMID:9000145|PMID:9463314 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:3459 breast carcinoma ISO RGD:1603171 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Multifocal breast carcinoma PMID:10330348|PMID:10817650|PMID:10980530|PMID:11805335|PMID:12810666|PMID:15279808|PMID:15390180|PMID:16014569|PMID:16266405|PMID:16864838|PMID:17344846|PMID:17576681|PMID:18634022|PMID:19431188|PMID:19535770|PMID:19605768|PMID:20153123|PMID:21354641|PMID:21778326|PMID:21792198|PMID:21933854|PMID:21965147|PMID:22146522|PMID:22213089|PMID:22585167|PMID:25122203|PMID:25479140|PMID:2557216|PMID:25572163|PMID:25614872|PMID:25741868|PMID:25957637|PMID:25980754|PMID:26467025|PMID:26506520|PMID:26681312|PMID:26787654|PMID:26837699|PMID:26976419|PMID:27159176|PMID:28120234|PMID:28126470|PMID:28492532|PMID:28652578|PMID:28726808|PMID:28779002|PMID:28843361|PMID:29478780|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30549301|PMID:30579816|PMID:30819809|PMID:31050087|PMID:31159747|PMID:31741144|PMID:32658311|PMID:32854451|PMID:32957588|PMID:36988593|PMID:9536098|PMID:9622061|PMID:9887333 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1603171 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Papillary thyroid carcinoma PMID:19404735|PMID:20305132|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26901136|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28717660|PMID:28779002|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30613976|PMID:31159747|PMID:31742824|PMID:32522261|PMID:33471991|PMID:34262154|PMID:34646395 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:4450 renal cell carcinoma ISO RGD:1603171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:10571946 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1603171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:10980530|PMID:18560558|PMID:19431188|PMID:19691550|PMID:19779456|PMID:25186627|PMID:25741868|PMID:26628246|PMID:28492532|PMID:29522266|PMID:33747920|PMID:8755918|PMID:9792409 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:4905 pancreatic carcinoma ISO RGD:1603171 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:10330348|PMID:10817650|PMID:10980530|PMID:12497634|PMID:12673797|PMID:12810666|PMID:14586414|PMID:14970866|PMID:15101044|PMID:15390180|PMID:16266405|PMID:17576681|PMID:1849795|PMID:18497957|PMID:20153123|PMID:21833744|PMID:22585167|PMID:23454770|PMID:23807571|PMID:24556621|PMID:25614872|PMID:25741868|PMID:26483394|PMID:26506520|PMID:26822949|PMID:27159176|PMID:28492532|PMID:32295079|PMID:3338800|PMID:36988593|PMID:8808599|PMID:9443866|PMID:9536098|PMID:9887333 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10464642|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24451234|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32853339|PMID:33095795|PMID:33134171|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33630411|PMID:33747920|PMID:33850299|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10464642|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32853339|PMID:33095795|PMID:33134171|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10464642|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32853339|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10464642|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32853339|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32853339|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34299313|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:24733792|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34299313|PMID:34646395|PMID:35039564|PMID:35245693|PMID:35264596|PMID:35892882|PMID:35893033|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9887333 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:630 genetic disease ISO RGD:1603171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:687 hepatoblastoma ISO RGD:1603171 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:21665257|PMID:25186627|PMID:25741868|PMID:26787654|PMID:28492532|PMID:29522266|PMID:33471991 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:9002928 Colonic Neoplasms ISO RGD:1603171 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30482293|PMID:32658311 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1603171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma PMID:28492532 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:9005628 Ataxia-Telangiectasia Variant ISO RGD:1603171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ataxia - telangiectasia variant PMID:10330348|PMID:11382771|PMID:11826028|PMID:11830610|PMID:14654357|PMID:15174027|PMID:16958054|PMID:17001622|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:19823873|PMID:20301790|PMID:21787400|PMID:21792198|PMID:22345219|PMID:22529920|PMID:22585167|PMID:23143971|PMID:24088041|PMID:24733792|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25186627|PMID:25741868|PMID:25914063|PMID:25980754|PMID:26506520|PMID:26633545|PMID:26662178|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:28008555|PMID:28492532|PMID:28779002|PMID:29719442|PMID:29915382|PMID:30504431|PMID:30549301|PMID:33509806|PMID:8755918|PMID:8808599|PMID:9000145|PMID:9288106|PMID:9463314|PMID:9792410|PMID:9887333 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1603171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10571946 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24451234|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28188106|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32107087|PMID:32125938|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33134171|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33747920|PMID:33850299|PMID:34299313|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34299313|PMID:34350294|PMID:34359559 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:34371384|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35201558|PMID:35260754|PMID:35309086|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250417|PMID:34262154|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35806449|PMID:35892882|PMID:35893033|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:9008939 Breast Neoplasms ISO RGD:1603171 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:10817650|PMID:11382771|PMID:11805335|PMID:11830610|PMID:12195425|PMID:12552559|PMID:16958054|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22529920|PMID:22649200|PMID:24088041|PMID:24733792|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26506520|PMID:26556299|PMID:26633545|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29719442|PMID:29915382|PMID:30549301|PMID:31447099|PMID:31948886|PMID:32338768|PMID:32853339|PMID:6504056|PMID:7792600|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9537233 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:9008939 Breast Neoplasms ISO RGD:1603171 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:10817650|PMID:11382771|PMID:11805335|PMID:11830610|PMID:12195425|PMID:12552559|PMID:16958054|PMID:17001622|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:20301790|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22529920|PMID:22585167|PMID:22649200|PMID:24088041|PMID:24733792|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26506520|PMID:26556299|PMID:26633545|PMID:26662178|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29719442|PMID:29915382|PMID:30549301|PMID:31447099|PMID:31948886|PMID:32338768|PMID:32853339|PMID:33509806|PMID:6504056|PMID:7792600|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9537233 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:9008952 Breast Cancer, Familial ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:10023947|PMID:10330348|PMID:10416970|PMID:10571946|PMID:10706620|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11897822|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12673797|PMID:12673804|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12935922|PMID:12969974|PMID:14586414|PMID:14627829|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16603769|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17393301|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18321536|PMID:18384426|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20153123|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:20966255|PMID:21150274|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22927201|PMID:22952040|PMID:23091097|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23774824|PMID:23807571|PMID:23946315|PMID:24088041|PMID:24172824|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24853695|PMID:24920063|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25122203|PMID:25148578|PMID:25151137|PMID:25186627|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25957637|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27097373|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28093616|PMID:28120234|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28338653|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29371908|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29909963 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:9008952 Breast Cancer, Familial ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29954938|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30441849|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30723761|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30883245|PMID:30927251|PMID:31050087|PMID:31054420|PMID:31097817|PMID:31125277|PMID:31130284|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31617914|PMID:31691010|PMID:31741144|PMID:31742824|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31948886|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32107087|PMID:32125938|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32756499|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33608381|PMID:33630411|PMID:33747920|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34761457|PMID:35039564|PMID:35245693|PMID:35264596|PMID:35365198|PMID:35402282|PMID:35806449|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9150358|PMID:9244351|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:9256 colorectal cancer ISO RGD:1603171 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:10330348|PMID:10817650|PMID:10980530|PMID:12646636|PMID:15039971|PMID:16266405|PMID:21665257|PMID:21833744|PMID:25374739|PMID:25614872|PMID:25741868|PMID:26681312|PMID:27433846|PMID:28492532|PMID:29360161|PMID:30067863|PMID:31159747|PMID:32295079|PMID:9443866|PMID:9887333 12150866 C5H11orf65 chromosome 5 C11orf65 homolog gene DOID:9460 uterine corpus cancer ISO RGD:1603171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:11805335|PMID:15279808|PMID:16864838|PMID:19535770|PMID:19605768|PMID:21354641|PMID:21778326|PMID:21792198|PMID:21965147|PMID:22146522|PMID:22213089|PMID:25122203|PMID:2557216|PMID:25572163|PMID:25741868|PMID:25957637|PMID:25980754|PMID:26467025|PMID:26681312|PMID:26976419|PMID:28126470|PMID:28492532|PMID:28843361|PMID:29478780|PMID:29909963|PMID:30322717|PMID:30549301|PMID:30579816|PMID:30819809|PMID:31050087|PMID:32854451 12150892 MIS12 MIS12 kinetochore complex component gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1346036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 12150892 MIS12 MIS12 kinetochore complex component gene DOID:630 genetic disease ISO RGD:1346036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150892 MIS12 MIS12 kinetochore complex component gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12150918 TEX15 testis expressed 15, meiosis and synapsis associated gene DOID:0070168 spermatogenic failure 3 ISO RGD:1322630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:28492532|PMID:31479588 12150918 TEX15 testis expressed 15, meiosis and synapsis associated gene DOID:0070188 spermatogenic failure 1 ISO RGD:1322630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligosynaptic infertility PMID:26199321 12150918 TEX15 testis expressed 15, meiosis and synapsis associated gene DOID:0111920 spermatogenic failure 25 ISO RGD:1322630 D RGD:7240710 20190315 OMIM 12150918 TEX15 testis expressed 15, meiosis and synapsis associated gene DOID:0111920 spermatogenic failure 25 ISO RGD:1322630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 25 PMID:25741868|PMID:26199321|PMID:28355598|PMID:28492532 12150918 TEX15 testis expressed 15, meiosis and synapsis associated gene DOID:2661 myoepithelioma ISO RGD:1322630 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12150918 TEX15 testis expressed 15, meiosis and synapsis associated gene DOID:630 genetic disease ISO RGD:1322630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12150944 FGF8 fibroblast growth factor 8 gene DOID:0080201 Peters plus syndrome ISO RGD:733956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peters plus syndrome PMID:25741868|PMID:29584859 12150944 FGF8 fibroblast growth factor 8 gene DOID:0090086 hypogonadotropic hypogonadism 6 with or without anosmia ISO RGD:733956 D RGD:7240710 20190904 OMIM 12150944 FGF8 fibroblast growth factor 8 gene DOID:0090086 hypogonadotropic hypogonadism 6 with or without anosmia ISO RGD:733956 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 6 with or without anosmia PMID:17360555|PMID:18596921|PMID:20463092|PMID:21045958|PMID:21832120|PMID:23533228|PMID:25741868|PMID:26931467|PMID:28492532|PMID:29584859 12150944 FGF8 fibroblast growth factor 8 gene DOID:0110881 holoprosencephaly 1 ISO RGD:733956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 1 PMID:18596921|PMID:21045958|PMID:28492532 12150944 FGF8 fibroblast growth factor 8 gene DOID:10629 microphthalmia ISO RGD:733956 D RGD:9068941 20201218 CTD CTD Direct Evidence: therapeutic PMID:32472575 12150944 FGF8 fibroblast growth factor 8 gene DOID:10892 hypospadias ISO RGD:70891 D RGD:9068941 20200609 RGD PMID:19464577|REF_RGD_ID:2314151 12150944 FGF8 fibroblast growth factor 8 gene DOID:10907 microcephaly ISO RGD:733956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12150944 FGF8 fibroblast growth factor 8 gene DOID:11132 prostatic hypertrophy ISO RGD:733956 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate PMID:10343609|REF_RGD_ID:2289343 12150944 FGF8 fibroblast growth factor 8 gene DOID:11198 DiGeorge syndrome ISO RGD:1553752 D RGD:9068941 20220825 MouseDO OMIM:188400 12150944 FGF8 fibroblast growth factor 8 gene DOID:11198 DiGeorge syndrome ISO RGD:733956 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16399080 12150944 FGF8 fibroblast growth factor 8 gene DOID:1612 breast cancer ISO RGD:733956 D RGD:9068941 20200609 RGD mRNA:increased expression:breast epithelium:significant increase in both the number of tumors expressing FGF8 (p=0.019) and the absolute expression level (p=0.031) PMID:10023681|REF_RGD_ID:2289344 12150944 FGF8 fibroblast growth factor 8 gene DOID:1911 endodermal sinus tumor ISO RGD:733956 D RGD:9068941 20200609 RGD protein:increased expression:testicular germ cell neoplasms PMID:11764380|REF_RGD_ID:2289339 12150944 FGF8 fibroblast growth factor 8 gene DOID:3308 embryonal carcinoma ISO RGD:733956 D RGD:9068941 20200609 RGD protein:increased expression:testicular germ cell neoplasms PMID:11764380|REF_RGD_ID:2289339 12150944 FGF8 fibroblast growth factor 8 gene DOID:3594 choriocarcinoma ISO RGD:733956 D RGD:9068941 20200609 RGD protein:increased expression:testicular germ cell neoplasms PMID:11764380|REF_RGD_ID:2289339 12150944 FGF8 fibroblast growth factor 8 gene DOID:3614 Kallmann syndrome ISO RGD:733956 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12150944 FGF8 fibroblast growth factor 8 gene DOID:4621 holoprosencephaly ISO RGD:733956 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Semilobar holoprosencephaly PMID:20463092|PMID:22399515|PMID:25131394|PMID:25741868|PMID:26467025|PMID:26857713|PMID:26931467|PMID:27363716|PMID:28492532|PMID:29584859 12150944 FGF8 fibroblast growth factor 8 gene DOID:630 genetic disease ISO RGD:733956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150944 FGF8 fibroblast growth factor 8 gene DOID:6419 tetralogy of Fallot ISO RGD:1553752 D RGD:9068941 20220825 MouseDO OMIM:187500 12150944 FGF8 fibroblast growth factor 8 gene DOID:674 cleft palate ISO RGD:733956 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 12150944 FGF8 fibroblast growth factor 8 gene DOID:8634 prostate carcinoma in situ ISO RGD:733956 D RGD:9068941 20200609 RGD PMID:12208767|REF_RGD_ID:2301097 12150944 FGF8 fibroblast growth factor 8 gene DOID:9001460 22q11 Deletion Syndrome ISO RGD:733956 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12223415 12150944 FGF8 fibroblast growth factor 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733956 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:prostate:isoforms FGF8a and FGF8e PMID:11406643|REF_RGD_ID:2289340 12150944 FGF8 fibroblast growth factor 8 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:733956 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate:expression negatively correlated with Gleason grade (p = 0.02) PMID:10343609|REF_RGD_ID:2289343 12150944 FGF8 fibroblast growth factor 8 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:733956 D RGD:9068941 20200609 RGD protein:increased expression:prostate:expression of isoform FGF8b significantly associated with both stage (P=0.0004) and grade (P<0.0001) PMID:12778074|REF_RGD_ID:2289338 12150944 FGF8 fibroblast growth factor 8 gene DOID:9002457 Experimental Arthritis ISO RGD:70891 D RGD:9068941 20200609 RGD PMID:18699993|REF_RGD_ID:2314157 12150944 FGF8 fibroblast growth factor 8 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:733956 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16720880 12150944 FGF8 fibroblast growth factor 8 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733956 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:ovary PMID:11072239|REF_RGD_ID:2289342 12150944 FGF8 fibroblast growth factor 8 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1553752 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:9840935|REF_RGD_ID:2301098 12150944 FGF8 fibroblast growth factor 8 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1553752 D RGD:9068941 20200609 RGD PMID:9840935|REF_RGD_ID:2301098 12150944 FGF8 fibroblast growth factor 8 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733956 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16720880 12150944 FGF8 fibroblast growth factor 8 gene DOID:9296 cleft lip ISO RGD:733956 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 12150945 DDHD2 DDHD domain containing 2 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1318138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 12150945 DDHD2 DDHD domain containing 2 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1318138 D RGD:7240710 20180130 OMIM 12150945 DDHD2 DDHD domain containing 2 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1318138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:16199547|PMID:16636240|PMID:17576681|PMID:23176823|PMID:23486545|PMID:24337409|PMID:24482476|PMID:24517879|PMID:25417924|PMID:25741868|PMID:28492532|PMID:31271950|PMID:31302745|PMID:32488064|PMID:9536098 12150945 DDHD2 DDHD domain containing 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1318138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17576681|PMID:23176823|PMID:24337409|PMID:24517879|PMID:25417924|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32488064|PMID:9536098 12150945 DDHD2 DDHD domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1318138 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:33462483 12150945 DDHD2 DDHD domain containing 2 gene DOID:607 paraplegia ISO RGD:1318138 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12150945 DDHD2 DDHD domain containing 2 gene DOID:630 genetic disease ISO RGD:1318138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12150945 DDHD2 DDHD domain containing 2 gene DOID:9970 obesity ISO RGD:1318138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:23176823|PMID:24337409|PMID:24517879|PMID:25417924|PMID:25741868|PMID:28492532|PMID:32488064 12150972 TMX2 thioredoxin related transmembrane protein 2 gene DOID:1059 intellectual disability ISO RGD:1603042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12150972 TMX2 thioredoxin related transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:1603042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150972 TMX2 thioredoxin related transmembrane protein 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1603042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:31586943|PMID:31735293 12150972 TMX2 thioredoxin related transmembrane protein 2 gene DOID:9006716 Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity ISO RGD:1603042 D RGD:7240710 20200226 OMIM 12150972 TMX2 thioredoxin related transmembrane protein 2 gene DOID:9006716 Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity ISO RGD:1603042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity PMID:25741868|PMID:31586943|PMID:31735293 12150984 CTSH cathepsin H gene DOID:0080322 polycystic kidney disease ISO RGD:2447 D RGD:9068941 20200609 RGD protein:increased expression:kidney proximal tubule PMID:8840269|REF_RGD_ID:5686402 12150984 CTSH cathepsin H gene DOID:12858 Huntington's disease ISO RGD:735454 D RGD:9068941 20200609 RGD protein:increased expression:caudate nucleus PMID:7561949|REF_RGD_ID:5686393 12150984 CTSH cathepsin H gene DOID:2377 multiple sclerosis ISO RGD:10423 D RGD:9068941 20200609 RGD PMID:17086443|REF_RGD_ID:5686392 12150984 CTSH cathepsin H gene DOID:2671 transitional cell carcinoma ISO RGD:735454 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:15183956|REF_RGD_ID:2315615 12150984 CTSH cathepsin H gene DOID:2717 Bloom syndrome ISO RGD:735454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12150984 CTSH cathepsin H gene DOID:3068 glioblastoma ISO RGD:735454 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:8640738|REF_RGD_ID:1549417 12150984 CTSH cathepsin H gene DOID:332 amyotrophic lateral sclerosis ISO RGD:10423 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:17583678|REF_RGD_ID:5686391 12150984 CTSH cathepsin H gene DOID:630 genetic disease ISO RGD:735454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150984 CTSH cathepsin H gene DOID:9000965 Neoplasm Metastasis ISO RGD:735454 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:12589965|REF_RGD_ID:5686394 12150984 CTSH cathepsin H gene DOID:9005166 Contusions ISO RGD:2447 D RGD:9068941 20211224 RGD mRNA:increased expression:gastrocnemius (rat) PMID:11788364|REF_RGD_ID:631244 12150984 CTSH cathepsin H gene DOID:9007980 Sleep Deprivation ISO RGD:2447 D RGD:9068941 20200609 RGD PMID:17027151|REF_RGD_ID:2306498 12150984 CTSH cathepsin H gene DOID:9119 acute myeloid leukemia ISO RGD:735454 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12150984 CTSH cathepsin H gene DOID:9256 colorectal cancer ISO RGD:735454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12150984 CTSH cathepsin H gene DOID:9744 type 1 diabetes mellitus ISO RGD:735454 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18978792 12150998 BCO2 beta-carotene oxygenase 2 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1319131 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 12150998 BCO2 beta-carotene oxygenase 2 gene DOID:1059 intellectual disability ISO RGD:1319131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12150998 BCO2 beta-carotene oxygenase 2 gene DOID:630 genetic disease ISO RGD:1319131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12150998 BCO2 beta-carotene oxygenase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1319131 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12150998 BCO2 beta-carotene oxygenase 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1319131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12150998 BCO2 beta-carotene oxygenase 2 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1319131 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 12151042 CACYBP calcyclin binding protein gene DOID:1540 parathyroid carcinoma ISO RGD:1346732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12151042 CACYBP calcyclin binding protein gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1346732 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:18765951|REF_RGD_ID:2326146 12151042 CACYBP calcyclin binding protein gene DOID:3755 antithrombin III deficiency ISO RGD:1346732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 12151042 CACYBP calcyclin binding protein gene DOID:5844 myocardial infarction ISO RGD:1303146 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:16440310|REF_RGD_ID:2326117 12151042 CACYBP calcyclin binding protein gene DOID:630 genetic disease ISO RGD:1346732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151042 CACYBP calcyclin binding protein gene DOID:9000965 Neoplasm Metastasis ISO RGD:1346732 D RGD:9068941 20200609 RGD associated with pancreatic neoplasms PMID:18765951|REF_RGD_ID:2326146 12151042 CACYBP calcyclin binding protein gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1346732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 12151042 CACYBP calcyclin binding protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12151058 SAV1 salvador family WW domain containing protein 1 gene DOID:5353 colonic disease ISO RGD:1316339 D RGD:9068941 20220825 MouseDO 12151058 SAV1 salvador family WW domain containing protein 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12151058 SAV1 salvador family WW domain containing protein 1 gene DOID:630 genetic disease ISO RGD:1316338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151058 SAV1 salvador family WW domain containing protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1316339 D RGD:9068941 20220825 MouseDO OMIM:114550 12151067 MED1 mediator complex subunit 1 gene DOID:10283 prostate cancer ISO RGD:1351174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12151067 MED1 mediator complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:1351174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12151067 MED1 mediator complex subunit 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1617613 D RGD:9068941 20200609 RGD PMID:27548259|REF_RGD_ID:13513972 12151067 MED1 mediator complex subunit 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1617613 D RGD:9068941 20220825 MouseDO 12151067 MED1 mediator complex subunit 1 gene DOID:289 endometriosis ISO RGD:1351174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12151067 MED1 mediator complex subunit 1 gene DOID:6000 congestive heart failure ISO RGD:1617613 D RGD:9068941 20220825 MouseDO 12151067 MED1 mediator complex subunit 1 gene DOID:630 genetic disease ISO RGD:1351174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12151067 MED1 mediator complex subunit 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1351174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20007298 12151067 MED1 mediator complex subunit 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16109766 12151092 ATP10D ATPase phospholipid transporting 10D (putative) gene DOID:630 genetic disease ISO RGD:1316047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151092 ATP10D ATPase phospholipid transporting 10D (putative) gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12151134 TDGF1 teratocarcinoma-derived growth factor 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1352791 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11062482 12151134 TDGF1 teratocarcinoma-derived growth factor 1 gene DOID:14330 Parkinson's disease treatment ISO RGD:1617601 D RGD:9068941 20200609 RGD PMID:20641036|REF_RGD_ID:11561895 12151134 TDGF1 teratocarcinoma-derived growth factor 1 gene DOID:1682 congenital heart disease ISO RGD:1352791 D RGD:9068941 20200609 RGD DNA:mutations:3'UTR,exons: PMID:19853938|REF_RGD_ID:11561893 12151134 TDGF1 teratocarcinoma-derived growth factor 1 gene DOID:219 colon cancer treatment ISO RGD:1352791 D RGD:9068941 20200609 RGD PMID:15173016|REF_RGD_ID:11561894 12151134 TDGF1 teratocarcinoma-derived growth factor 1 gene DOID:3307 teratoma treatment ISO RGD:1617601 D RGD:9068941 20200609 RGD PMID:20641036|REF_RGD_ID:11561895 12151134 TDGF1 teratocarcinoma-derived growth factor 1 gene DOID:4621 holoprosencephaly ISO RGD:1352791 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12073012 12151134 TDGF1 teratocarcinoma-derived growth factor 1 gene DOID:630 genetic disease ISO RGD:1352791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151134 TDGF1 teratocarcinoma-derived growth factor 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1352791 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12151134 TDGF1 teratocarcinoma-derived growth factor 1 gene DOID:9003918 Forebrain Defects ISO RGD:1352791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Forebrain defects PMID:11062482|PMID:12073012 12151142 OR2T27 olfactory receptor family 2 subfamily T member 27 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1350912 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12151142 OR2T27 olfactory receptor family 2 subfamily T member 27 gene DOID:1540 parathyroid carcinoma ISO RGD:1350912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12151142 OR2T27 olfactory receptor family 2 subfamily T member 27 gene DOID:630 genetic disease ISO RGD:1350912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151142 OR2T27 olfactory receptor family 2 subfamily T member 27 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12151145 KCNF1 potassium voltage-gated channel modifier subfamily F member 1 gene DOID:10283 prostate cancer ISO RGD:735852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12151145 KCNF1 potassium voltage-gated channel modifier subfamily F member 1 gene DOID:630 genetic disease ISO RGD:735852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151150 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:0080419 developmental and epileptic encephalopathy 50 ISO RGD:1348167 D RGD:7240710 20180130 OMIM 12151150 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:0080419 developmental and epileptic encephalopathy 50 ISO RGD:1348167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 50 PMID:16199547|PMID:17576681|PMID:25678555|PMID:25741868|PMID:28007989|PMID:28492532|PMID:32117025|PMID:32461667|PMID:32820246|PMID:33497533|PMID:9536098 12151150 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1348167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy PMID:28492532|PMID:32820246|PMID:33497533 12151150 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:0080916 erythroleukemia ISO RGD:1348167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 12151150 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1348167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12151150 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:10923 sickle cell anemia ISO RGD:1348167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 12151150 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:12241 beta thalassemia ISO RGD:1348167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 12151150 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:12971 hereditary spherocytosis ISO RGD:1348167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 12151150 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:1342 congenital hypoplastic anemia ISO RGD:1348167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 12151150 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:1826 epilepsy ISO RGD:1348167 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12151150 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:3247 rhabdomyosarcoma ISO RGD:1588606 D RGD:9068941 20211119 RGD PMID:7053379|REF_RGD_ID:10755426 12151150 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:4450 renal cell carcinoma ISO RGD:1588606 D RGD:9068941 20211119 RGD PMID:7053379|REF_RGD_ID:10755426 12151150 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:630 genetic disease ISO RGD:1348167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12151150 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:684 hepatocellular carcinoma ISO RGD:1588606 D RGD:9068941 20200609 RGD DNA:amplification:cds (rat) PMID:2914957|REF_RGD_ID:5132587 12151150 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:684 hepatocellular carcinoma ISO RGD:1588606 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:2888462|REF_RGD_ID:2303530 12151150 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:684 hepatocellular carcinoma ISO RGD:1588606 D RGD:9068941 20211119 RGD PMID:7053379|REF_RGD_ID:10755426 12151150 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1588606 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:13618893|REF_RGD_ID:5132586 12151150 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:9002231 Fetal Growth Retardation ISO RGD:1588606 D RGD:9068941 20200609 RGD PMID:3973436|REF_RGD_ID:2303532 12151150 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:9002928 Colonic Neoplasms ISO RGD:1588606 D RGD:9068941 20211119 RGD PMID:7053379|REF_RGD_ID:10755426 12151150 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:1588606 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland PMID:6030068|REF_RGD_ID:2303540 12151150 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1588606 D RGD:9068941 20200609 RGD protein:decreased activity:mammary gland (rat) PMID:1476792|REF_RGD_ID:5132591 12151211 BCL9 BCL9 transcription coactivator gene DOID:0060041 autism spectrum disorder ISO RGD:1315830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 12151211 BCL9 BCL9 transcription coactivator gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:1315830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome 12151211 BCL9 BCL9 transcription coactivator gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:1315830 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 12151211 BCL9 BCL9 transcription coactivator gene DOID:0110231 cataract 1 multiple types ISO RGD:1315830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 1 multiple types PMID:17601931|PMID:23720739|PMID:23772370|PMID:28492532 12151211 BCL9 BCL9 transcription coactivator gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1315830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 12151211 BCL9 BCL9 transcription coactivator gene DOID:1540 parathyroid carcinoma ISO RGD:1315830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12151211 BCL9 BCL9 transcription coactivator gene DOID:5419 schizophrenia ISO RGD:1315830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12151211 BCL9 BCL9 transcription coactivator gene DOID:630 genetic disease ISO RGD:1315830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151211 BCL9 BCL9 transcription coactivator gene DOID:9002762 Ovarian Neoplasms ISO RGD:1315830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22024689 12151211 BCL9 BCL9 transcription coactivator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12151211 BCL9 BCL9 transcription coactivator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12151240 LDLRAD3 low density lipoprotein receptor class A domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1605868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12151240 LDLRAD3 low density lipoprotein receptor class A domain containing 3 gene DOID:303 substance-related disorder ISO RGD:1605868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12151240 LDLRAD3 low density lipoprotein receptor class A domain containing 3 gene DOID:630 genetic disease ISO RGD:1605868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151256 MC5R melanocortin 5 receptor gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:732421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12151256 MC5R melanocortin 5 receptor gene DOID:1059 intellectual disability ISO RGD:732421 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12151256 MC5R melanocortin 5 receptor gene DOID:630 genetic disease ISO RGD:732421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151256 MC5R melanocortin 5 receptor gene DOID:9004713 Acute-Phase Reaction ISO RGD:3058 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:22183812|REF_RGD_ID:6484138 12151262 PDE12 phosphodiesterase 12 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1606683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26055709 12151262 PDE12 phosphodiesterase 12 gene DOID:630 genetic disease ISO RGD:1606683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151262 PDE12 phosphodiesterase 12 gene DOID:9004531 Cardiovirus Infections ISO RGD:1606683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26055709 12151262 PDE12 phosphodiesterase 12 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1606683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 12151269 OR10A6 olfactory receptor family 10 subfamily A member 6 gene DOID:630 genetic disease ISO RGD:1344283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151272 PLA2G2D phospholipase A2 group IID gene DOID:0060369 Parkinson's disease 6 ISO RGD:1320432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12151272 PLA2G2D phospholipase A2 group IID gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1320432 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12151272 PLA2G2D phospholipase A2 group IID gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1320432 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12151272 PLA2G2D phospholipase A2 group IID gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1320432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12151272 PLA2G2D phospholipase A2 group IID gene DOID:630 genetic disease ISO RGD:1320432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151272 PLA2G2D phospholipase A2 group IID gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1320432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12151278 SIK1 salt inducible kinase 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:69451 D RGD:7240710 20180130 OMIM 12151278 SIK1 salt inducible kinase 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:69451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:15511237|PMID:17576681|PMID:25741868|PMID:25839329|PMID:26467025|PMID:26567857|PMID:27966542|PMID:28492532|PMID:31780880|PMID:8596935|PMID:9536098 12151278 SIK1 salt inducible kinase 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:69451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12151278 SIK1 salt inducible kinase 1 gene DOID:12849 autistic disorder ISO RGD:69451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12151278 SIK1 salt inducible kinase 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:69451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16243910 12151278 SIK1 salt inducible kinase 1 gene DOID:1826 epilepsy ISO RGD:69451 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12151278 SIK1 salt inducible kinase 1 gene DOID:630 genetic disease ISO RGD:69451 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15511237|PMID:25741868|PMID:26467025|PMID:26567857|PMID:28492532 12151278 SIK1 salt inducible kinase 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:69451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12151278 SIK1 salt inducible kinase 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:69451 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12151278 SIK1 salt inducible kinase 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:69451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 12151278 SIK1 salt inducible kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12151278 SIK1 salt inducible kinase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:69451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12151278 SIK1 salt inducible kinase 1 gene DOID:9263 homocystinuria ISO RGD:69451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12151278 SIK1 salt inducible kinase 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:69451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12151296 SORCS2 sortilin related VPS10 domain containing receptor 2 gene DOID:630 genetic disease ISO RGD:1321631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151327 SCRN2 secernin 2 gene DOID:630 genetic disease ISO RGD:1317110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151343 SLC16A2 solute carrier family 16 member 2 gene DOID:0050631 Allan-Herndon-Dudley syndrome ISO RGD:737451 D RGD:7240710 20180130 OMIM 12151343 SLC16A2 solute carrier family 16 member 2 gene DOID:0050631 Allan-Herndon-Dudley syndrome ISO RGD:737451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome | ClinVar Annotator: match by term: Mental retardation and muscular atrophy PMID:12871948|PMID:14661163|PMID:15488219|PMID:15889350|PMID:15980113|PMID:1605231|PMID:16417886|PMID:17356046|PMID:18187543|PMID:18398436|PMID:18414213|PMID:18636565|PMID:20083155|PMID:20301789|PMID:23568789|PMID:23744248|PMID:24265446|PMID:24721225|PMID:25167861|PMID:25517855|PMID:25527620|PMID:25741868|PMID:27081503|PMID:27212794|PMID:27805744|PMID:28492532|PMID:30369548|PMID:31410843|PMID:31690835|PMID:32277047|PMID:32559475|PMID:33847015|PMID:8484404 12151343 SLC16A2 solute carrier family 16 member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:737451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 12151343 SLC16A2 solute carrier family 16 member 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12151343 SLC16A2 solute carrier family 16 member 2 gene DOID:10283 prostate cancer ISO RGD:737451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12151343 SLC16A2 solute carrier family 16 member 2 gene DOID:1059 intellectual disability ISO RGD:737451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868|PMID:28492532 12151343 SLC16A2 solute carrier family 16 member 2 gene DOID:12849 autistic disorder ISO RGD:737451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12151343 SLC16A2 solute carrier family 16 member 2 gene DOID:13580 cholestasis ISO RGD:737451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12151343 SLC16A2 solute carrier family 16 member 2 gene DOID:1459 hypothyroidism ISO RGD:737451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31121238 12151343 SLC16A2 solute carrier family 16 member 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:737451 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:20301789|PMID:23568789|PMID:24265446|PMID:24721225|PMID:25527620|PMID:25741868|PMID:27212794|PMID:28492532|PMID:28832565 12151343 SLC16A2 solute carrier family 16 member 2 gene DOID:607 paraplegia ISO RGD:737451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:15488219|PMID:15889350|PMID:15980113|PMID:16199547|PMID:16957765|PMID:17576681|PMID:18187543|PMID:18398436|PMID:18414213|PMID:19648159|PMID:20083155|PMID:20301789|PMID:21835051|PMID:23568789|PMID:23744248|PMID:24265446|PMID:24721225|PMID:25222753|PMID:25527620|PMID:25741868|PMID:27212794|PMID:27805744|PMID:27977298|PMID:28492532|PMID:29714107|PMID:30369548|PMID:31410843|PMID:32559475|PMID:9536098 12151343 SLC16A2 solute carrier family 16 member 2 gene DOID:630 genetic disease ISO RGD:737451 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15980113|PMID:16974106|PMID:18398436|PMID:18414213|PMID:18636565|PMID:19194886|PMID:20301789|PMID:21835051|PMID:23568789|PMID:24265446|PMID:24721225|PMID:25527620|PMID:25741868|PMID:27212794|PMID:27805744|PMID:28492532 12151352 HCRT hypocretin neuropeptide precursor gene DOID:0050848 obstructive sleep apnea ISO RGD:731040 D RGD:9068941 20200609 RGD protein:decreased expression:plasma:independent of level of somnolence or obesity PMID:15627867|REF_RGD_ID:1600936 12151352 HCRT hypocretin neuropeptide precursor gene DOID:0060001 withdrawal disorder ISO RGD:731040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20738730 12151352 HCRT hypocretin neuropeptide precursor gene DOID:11983 Prader-Willi syndrome ISO RGD:731040 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:15613151|REF_RGD_ID:1600935 12151352 HCRT hypocretin neuropeptide precursor gene DOID:12842 Guillain-Barre syndrome ISO RGD:731040 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:15623725|REF_RGD_ID:1600925 12151352 HCRT hypocretin neuropeptide precursor gene DOID:1289 neurodegenerative disease ISO RGD:731040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23246865 12151352 HCRT hypocretin neuropeptide precursor gene DOID:4195 hyperglycemia treatment ISO RGD:2786 D RGD:9068941 20200609 RGD associated with Obesity PMID:12217430|REF_RGD_ID:1358430 12151352 HCRT hypocretin neuropeptide precursor gene DOID:630 genetic disease ISO RGD:731040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151352 HCRT hypocretin neuropeptide precursor gene DOID:8986 narcolepsy ISO RGD:731040 D RGD:9068941 20200609 RGD DNA:polymorphism:5' UTR:3250C/T, all patients found heterozygous for the 3250T allele PMID:11148249|REF_RGD_ID:1600922 12151352 HCRT hypocretin neuropeptide precursor gene DOID:8986 narcolepsy ISO RGD:731040 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus or protein:decreased expression:brain; in all samples examined PMID:10973318|REF_RGD_ID:1600919 12151352 HCRT hypocretin neuropeptide precursor gene DOID:8986 narcolepsy ISO RGD:731041 D RGD:9068941 20220825 MouseDO OMIM:161400 | OMIM:605841 | OMIM:609039 | OMIM:612417 | OMIM:612851 | OMIM:614223 | OMIM:614250 12151352 HCRT hypocretin neuropeptide precursor gene DOID:8986 narcolepsy no_association ISO RGD:731040 D RGD:9068941 20200609 RGD DNA:polymorphism:5' UTR:no association with either -909C-T polymorphism or -22T allele (aka 3250T allele) PMID:11723284|REF_RGD_ID:1600923 12151352 HCRT hypocretin neuropeptide precursor gene DOID:9000641 Pain ISO RGD:731040 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16202530 12151352 HCRT hypocretin neuropeptide precursor gene DOID:9002395 Hypothermia ISO RGD:731040 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26799708 12151352 HCRT hypocretin neuropeptide precursor gene DOID:9002916 Hyperphagia ISO RGD:2786 D RGD:9068941 20200609 RGD PMID:12535169|REF_RGD_ID:1358429 12151352 HCRT hypocretin neuropeptide precursor gene DOID:9002916 Hyperphagia ISO RGD:731040 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27071101 12151352 HCRT hypocretin neuropeptide precursor gene DOID:9002925 Narcolepsy 1 ISO RGD:731040 D RGD:7240710 20180130 OMIM 12151352 HCRT hypocretin neuropeptide precursor gene DOID:9002925 Narcolepsy 1 ISO RGD:731040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Narcolepsy 1 PMID:10973318 12151352 HCRT hypocretin neuropeptide precursor gene DOID:9004657 Weight Gain ISO RGD:731040 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27071101 12151352 HCRT hypocretin neuropeptide precursor gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16357203 12151352 HCRT hypocretin neuropeptide precursor gene DOID:9970 obesity ISO RGD:2786 D RGD:9068941 20200609 RGD mRNA:increased expression:perifornical nucleus PMID:12560202|REF_RGD_ID:1358428 12151352 HCRT hypocretin neuropeptide precursor gene DOID:9970 obesity ISO RGD:731040 D RGD:9068941 20200609 RGD protein:decreased expression:plasma:orexin A NOT orexin B polypeptide, expression inversely related to degree of obesity PMID:16135994|REF_RGD_ID:1600933 12151352 HCRT hypocretin neuropeptide precursor gene DOID:9970 obesity ISO RGD:731040 D RGD:9068941 20200609 RGD protein:increased expression:plasma:fasting patients, no change after weight loss due to gastric banding PMID:15970339|REF_RGD_ID:1600932 12151352 HCRT hypocretin neuropeptide precursor gene DOID:9970 obesity ISO RGD:731040 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27071101 12151352 HCRT hypocretin neuropeptide precursor gene DOID:9970 obesity ISO RGD:731041 D RGD:9068941 20200609 RGD mRNA:increased expression:perifornical nucleus PMID:12560202|REF_RGD_ID:1358428 12151364 TMEM127 transmembrane protein 127 gene DOID:0050771 pheochromocytoma ISO RGD:1601991 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28492532|PMID:28855235|PMID:29625052|PMID:30113886|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098 12151364 TMEM127 transmembrane protein 127 gene DOID:0050771 pheochromocytoma susceptibility ISO RGD:1601991 D RGD:7240710 20230505 OMIM 12151364 TMEM127 transmembrane protein 127 gene DOID:0050773 paraganglioma ISO RGD:1601991 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paragangliomata PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29909963|PMID:30877234|PMID:31666924|PMID:32877928|PMID:33051659|PMID:9536098 12151364 TMEM127 transmembrane protein 127 gene DOID:0050773 paraganglioma ISO RGD:1601991 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:9536098 12151364 TMEM127 transmembrane protein 127 gene DOID:0050773 paraganglioma ISO RGD:1601991 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098 12151364 TMEM127 transmembrane protein 127 gene DOID:0050773 paraganglioma ISO RGD:1601991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098 12151364 TMEM127 transmembrane protein 127 gene DOID:0050773 paraganglioma ISO RGD:1601991 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098 12151364 TMEM127 transmembrane protein 127 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1601991 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acute promyelocytic leukemia PMID:25741868|PMID:28492532|PMID:32575117 12151364 TMEM127 transmembrane protein 127 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1601991 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Smith-Magenis syndrome PMID:16266984|PMID:17576681|PMID:20154675|PMID:25389632|PMID:25741868|PMID:28492532|PMID:9536098 12151364 TMEM127 transmembrane protein 127 gene DOID:1059 intellectual disability ISO RGD:1601991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12151364 TMEM127 transmembrane protein 127 gene DOID:1752 ocular melanoma ISO RGD:1601991 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intraocular melanoma PMID:25741868|PMID:28492532 12151364 TMEM127 transmembrane protein 127 gene DOID:2394 ovarian cancer ISO RGD:1601991 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 12151364 TMEM127 transmembrane protein 127 gene DOID:5419 schizophrenia ISO RGD:1601991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12151364 TMEM127 transmembrane protein 127 gene DOID:6039 uveal melanoma ISO RGD:1601991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uveal melanoma PMID:25741868|PMID:28492532 12151364 TMEM127 transmembrane protein 127 gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:1601991 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28492532|PMID:28855235|PMID:29625052|PMID:30113886|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:9536098 12151364 TMEM127 transmembrane protein 127 gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:1601991 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098 12151364 TMEM127 transmembrane protein 127 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601991 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30877234|PMID:31666924|PMID:32575117|PMID:33051659 12151364 TMEM127 transmembrane protein 127 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601991 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338 12151364 TMEM127 transmembrane protein 127 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098 12151364 TMEM127 transmembrane protein 127 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601991 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098 12151364 TMEM127 transmembrane protein 127 gene DOID:9119 acute myeloid leukemia ISO RGD:1601991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:20923864|PMID:25741868|PMID:28492532 12151374 ERLIN1 ER lipid raft associated 1 gene DOID:0080600 COVID-19 ISO RGD:1344396 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12151374 ERLIN1 ER lipid raft associated 1 gene DOID:0110813 hereditary spastic paraplegia 62 ISO RGD:1344396 D RGD:7240710 20190315 OMIM 12151374 ERLIN1 ER lipid raft associated 1 gene DOID:0110813 hereditary spastic paraplegia 62 ISO RGD:1344396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 62 PMID:16199547|PMID:17576681|PMID:24482476|PMID:25741868|PMID:28492532|PMID:9536098 12151374 ERLIN1 ER lipid raft associated 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1344396 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12151374 ERLIN1 ER lipid raft associated 1 gene DOID:630 genetic disease ISO RGD:1344396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12151374 ERLIN1 ER lipid raft associated 1 gene DOID:9000276 Juvenile Amyotrophic Lateral Sclerosis ISO RGD:1344396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis PMID:25741868 12151390 CHRDL2 chordin like 2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1314650 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12151390 CHRDL2 chordin like 2 gene DOID:1059 intellectual disability ISO RGD:1314650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12151390 CHRDL2 chordin like 2 gene DOID:630 genetic disease ISO RGD:1314650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151411 CCDC146 coiled-coil domain containing 146 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12151411 CCDC146 coiled-coil domain containing 146 gene DOID:630 genetic disease ISO RGD:1605975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151411 CCDC146 coiled-coil domain containing 146 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1605975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12151468 PDE6H phosphodiesterase 6H gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1353241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12151468 PDE6H phosphodiesterase 6H gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:1353241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy 3 12151468 PDE6H phosphodiesterase 6H gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1353241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12151468 PDE6H phosphodiesterase 6H gene DOID:0081025 retinal cone dystrophy 3A ISO RGD:1353241 D RGD:7240710 20180130 OMIM 12151468 PDE6H phosphodiesterase 6H gene DOID:0081025 retinal cone dystrophy 3A ISO RGD:1353241 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Retinal cone dystrophy 3A PMID:15629837|PMID:22901948|PMID:25741868|PMID:27472364|PMID:28492532 12151468 PDE6H phosphodiesterase 6H gene DOID:13399 color blindness ISO RGD:1353241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25739440 12151468 PDE6H phosphodiesterase 6H gene DOID:630 genetic disease ISO RGD:1353241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12151479 RNASE4 ribonuclease, RNase A family, 4 gene DOID:0060200 amyotrophic lateral sclerosis type 9 ISO RGD:736007 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9 PMID:16501576|PMID:17462671|PMID:17703939|PMID:17886298|PMID:17900154|PMID:18087731|PMID:18852347|PMID:19153377|PMID:19363631|PMID:19444281|PMID:19449021|PMID:19488901|PMID:20577002|PMID:22190368|PMID:22292843|PMID:22384259|PMID:22499346|PMID:22522484|PMID:22645277|PMID:22722621|PMID:23047679|PMID:23155438|PMID:23393617|PMID:23447461|PMID:23463871|PMID:23665167|PMID:25382069|PMID:25741868|PMID:26255299|PMID:26467025|PMID:26551617|PMID:26777436|PMID:28444446|PMID:28492532|PMID:29525178|PMID:30188356|PMID:31368019|PMID:31432357|PMID:32111867|PMID:32579787|PMID:32951934 12151479 RNASE4 ribonuclease, RNase A family, 4 gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:736007 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 PMID:17703939|PMID:18087731|PMID:22190368|PMID:25741868|PMID:28492532 12151479 RNASE4 ribonuclease, RNase A family, 4 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12151479 RNASE4 ribonuclease, RNase A family, 4 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:736007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12151479 RNASE4 ribonuclease, RNase A family, 4 gene DOID:630 genetic disease ISO RGD:736007 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12151479 RNASE4 ribonuclease, RNase A family, 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 12151479 RNASE4 ribonuclease, RNase A family, 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12151479 RNASE4 ribonuclease, RNase A family, 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:736007 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12151479 RNASE4 ribonuclease, RNase A family, 4 gene DOID:9255 frontotemporal dementia ISO RGD:736007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:28492532 12151491 ALKBH7 alkB homolog 7 gene DOID:0080490 mucolipidosis type IV ISO RGD:1352016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12151491 ALKBH7 alkB homolog 7 gene DOID:630 genetic disease ISO RGD:1352016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151499 MAN2C1 mannosidase alpha class 2C member 1 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:733679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 12151499 MAN2C1 mannosidase alpha class 2C member 1 gene DOID:1826 epilepsy ISO RGD:733679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12151499 MAN2C1 mannosidase alpha class 2C member 1 gene DOID:2717 Bloom syndrome ISO RGD:733679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12151499 MAN2C1 mannosidase alpha class 2C member 1 gene DOID:5419 schizophrenia ISO RGD:733679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12151499 MAN2C1 mannosidase alpha class 2C member 1 gene DOID:630 genetic disease ISO RGD:733679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151499 MAN2C1 mannosidase alpha class 2C member 1 gene DOID:9001812 CONGENITAL DISORDER OF DEGLYCOSYLATION 2 ISO RGD:733679 D RGD:7240710 20220427 OMIM 12151499 MAN2C1 mannosidase alpha class 2C member 1 gene DOID:9001812 CONGENITAL DISORDER OF DEGLYCOSYLATION 2 ISO RGD:733679 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Congenital disorder of deglycosylation 2 PMID:25741868|PMID:35045343 12151499 MAN2C1 mannosidase alpha class 2C member 1 gene DOID:9006791 Hypogonadotropic Hypogonadism 27 without Anosmia ISO RGD:733679 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 27 without anosmia 12151499 MAN2C1 mannosidase alpha class 2C member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733679 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12151499 MAN2C1 mannosidase alpha class 2C member 1 gene DOID:9256 colorectal cancer ISO RGD:733679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12151528 ALG11 ALG11 alpha-1,2-mannosyltransferase gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1604899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12151528 ALG11 ALG11 alpha-1,2-mannosyltransferase gene DOID:0080567 congenital disorder of glycosylation Ip ISO RGD:1604899 D RGD:7240710 20180130 OMIM 12151528 ALG11 ALG11 alpha-1,2-mannosyltransferase gene DOID:0080567 congenital disorder of glycosylation Ip ISO RGD:1604899 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P PMID:10441329|PMID:16283883|PMID:20080937|PMID:22213132|PMID:25741868|PMID:28122681|PMID:28492532|PMID:30676690 12151528 ALG11 ALG11 alpha-1,2-mannosyltransferase gene DOID:10316 pneumoconiosis ISO RGD:1604899 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 12151528 ALG11 ALG11 alpha-1,2-mannosyltransferase gene DOID:1059 intellectual disability ISO RGD:1604899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12151528 ALG11 ALG11 alpha-1,2-mannosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1604899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 12151528 ALG11 ALG11 alpha-1,2-mannosyltransferase gene DOID:630 genetic disease ISO RGD:1604899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:28649519 12151528 ALG11 ALG11 alpha-1,2-mannosyltransferase gene DOID:893 Wilson disease ISO RGD:1604899 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10441329|PMID:16283883|PMID:25741868|PMID:28492532|PMID:30655162|PMID:30676690 12151545 FAM186A family with sequence similarity 186 member A gene DOID:630 genetic disease ISO RGD:2301117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151579 DACT1 dishevelled binding antagonist of beta catenin 1 gene DOID:0050887 Townes-Brocks syndrome ISO RGD:1348421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12151579 DACT1 dishevelled binding antagonist of beta catenin 1 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:1348421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rieger anomaly PMID:26893459 12151579 DACT1 dishevelled binding antagonist of beta catenin 1 gene DOID:630 genetic disease ISO RGD:1348421 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:36066768 12151579 DACT1 dishevelled binding antagonist of beta catenin 1 gene DOID:9004070 Townes-Brocks Syndrome 2 ISO RGD:1348421 D RGD:7240710 20190315 OMIM 12151579 DACT1 dishevelled binding antagonist of beta catenin 1 gene DOID:9004070 Townes-Brocks Syndrome 2 ISO RGD:1348421 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Townes-Brocks syndrome 2 PMID:25741868|PMID:28054444|PMID:28492532|PMID:36066768 12151579 DACT1 dishevelled binding antagonist of beta catenin 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 12151589 CDK17 cyclin dependent kinase 17 gene DOID:2377 multiple sclerosis ISO RGD:1343326 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 12151589 CDK17 cyclin dependent kinase 17 gene DOID:630 genetic disease ISO RGD:1343326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151609 TMEM71 transmembrane protein 71 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1606965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28492532 12151609 TMEM71 transmembrane protein 71 gene DOID:14264 benign neonatal seizures ISO RGD:1606965 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 12151609 TMEM71 transmembrane protein 71 gene DOID:6000 congestive heart failure ISO RGD:1606965 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12151609 TMEM71 transmembrane protein 71 gene DOID:630 genetic disease ISO RGD:1606965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151635 DDT D-dopachrome tautomerase gene DOID:1826 epilepsy ISO RGD:1353002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12151635 DDT D-dopachrome tautomerase gene DOID:5419 schizophrenia ISO RGD:1353002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12151635 DDT D-dopachrome tautomerase gene DOID:630 genetic disease ISO RGD:1353002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151642 L1TD1 LINE1 type transposase domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1603640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12151642 L1TD1 LINE1 type transposase domain containing 1 gene DOID:630 genetic disease ISO RGD:1603640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151647 MIR302B microRNA mir-302b gene DOID:12271 aniridia ISO RGD:1349629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 12151647 MIR302B microRNA mir-302b gene DOID:3347 osteosarcoma ISO RGD:1349629 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23845851 12151656 BTBD6 BTB domain containing 6 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1352605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12151656 BTBD6 BTB domain containing 6 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1352605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 12151656 BTBD6 BTB domain containing 6 gene DOID:630 genetic disease ISO RGD:1352605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:0060041 autism spectrum disorder ISO RGD:736217 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:0060043 sexual health disorder ISO RGD:736217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12378847|PMID:17541852 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:736217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:1059 intellectual disability ISO RGD:736217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:1063 interstitial nephritis ISO RGD:736217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19814645 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:10652 Alzheimer's disease ISO RGD:736217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7574463 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:14330 Parkinson's disease ISO RGD:736217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14991823|PMID:15174030 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:1561 cognitive disorder ISO RGD:620640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20727252 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:2048 autoimmune hepatitis ISO RGD:736217 D RGD:9068941 20200609 RGD PMID:3186722|REF_RGD_ID:7207226 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:2048 autoimmune hepatitis ISO RGD:736217 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:10435724|REF_RGD_ID:11353781 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:2841 asthma ISO RGD:736217 D RGD:9068941 20200609 RGD DNA:polymorphism: :1934G>A (human) PMID:19575027|REF_RGD_ID:5143944 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:3021 acute kidney failure ISO RGD:736217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19814645 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:303 substance-related disorder ISO RGD:736217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17089107 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:4483 rhinitis ISO RGD:736217 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:*1934G>A (human) PMID:20088379|REF_RGD_ID:5143945 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:543 dystonia ISO RGD:736217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16702617 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:630 genetic disease ISO RGD:736217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:670 amphetamine abuse ISO RGD:736217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18280655 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:679 basal ganglia disease ISO RGD:736217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16000684 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:736217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835697 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:9000304 Manganese Poisoning ISO RGD:736217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12171760 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:9000495 Tremor ISO RGD:736217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15570195 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:736217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15570195 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:9001480 Muscle Rigidity ISO RGD:736217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15570195 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:620640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:9002295 Poor Drug Metabolism, CYP2D6-Related ISO RGD:736217 D RGD:7240710 20180130 OMIM 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:9002295 Poor Drug Metabolism, CYP2D6-Related ISO RGD:736217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Codeine, ultrarapid metabolism of | ClinVar Annotator: match by term: Debrisoquine, poor metabolism of PMID:10675100|PMID:12051754|PMID:15128046|PMID:15159443|PMID:15625333|PMID:1673290|PMID:16920476|PMID:17761971|PMID:1782973|PMID:1978251|PMID:1978565|PMID:19809024|PMID:21814747|PMID:2211621|PMID:22395643|PMID:22395644|PMID:23872831|PMID:24033728|PMID:24060820|PMID:24329190|PMID:24697814|PMID:25091503|PMID:27060675|PMID:27226358|PMID:27249031|PMID:27380339|PMID:27380342|PMID:27551126|PMID:27797974|PMID:27819145|PMID:27883289|PMID:27988492|PMID:28265459|PMID:28520357|PMID:28592184|PMID:28730340|PMID:28762370|PMID:28955222|PMID:29135105|PMID:29183390|PMID:29385237|PMID:29449008|PMID:29459457|PMID:29497277|PMID:29801584|PMID:30676859|PMID:31046213|PMID:7574463|PMID:7951238|PMID:8530011|PMID:8634695|PMID:9241659|PMID:9357098 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:9004017 Chronic Hepatitis C ISO RGD:736217 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:10435724|REF_RGD_ID:11353781 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:9004657 Weight Gain ISO RGD:736217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19997080 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:736217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:9005463 Occupational Diseases ISO RGD:736217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16737584 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:9006462 Coma ISO RGD:736217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18359183 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23609392 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:9007001 Bradycardia ISO RGD:736217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19284319 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736217 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:27490558|REF_RGD_ID:14700879 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:736217 D RGD:9068941 20200609 RGD PMID:12629505|REF_RGD_ID:1358549 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:9008939 Breast Neoplasms ISO RGD:736217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19597703 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:736217 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:11037802|REF_RGD_ID:11352820 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:736217 D RGD:9068941 20200609 RGD DNA:SNP: :(rs16947)(human) PMID:21518482|REF_RGD_ID:11352828 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:9538 multiple myeloma no_association ISO RGD:736217 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:20684753|REF_RGD_ID:11352804 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:736217 D RGD:9068941 20200609 RGD DNA:SNP,deletion:splice junction,exon:1934G>A(human) PMID:19593802|REF_RGD_ID:11252111 12151708 CYP2D15 cytochrome P450 family 2 subfamily D member 15 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:736217 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:11037802|REF_RGD_ID:11352820 12151720 NPY neuropeptide Y gene DOID:0050830 peripheral artery disease ISO RGD:730830 D RGD:9068941 20200609 RGD PMID:21468772|REF_RGD_ID:10448273 12151720 NPY neuropeptide Y gene DOID:0060001 withdrawal disorder ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16952158 12151720 NPY neuropeptide Y gene DOID:10652 Alzheimer's disease ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11709213 12151720 NPY neuropeptide Y gene DOID:10652 Alzheimer's disease ISO RGD:730830 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:8592643|REF_RGD_ID:10432246 12151720 NPY neuropeptide Y gene DOID:10652 Alzheimer's disease treatment ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:22266216|REF_RGD_ID:10431479 12151720 NPY neuropeptide Y gene DOID:10763 hypertension ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:15699473|PMID:18835922|REF_RGD_ID:10448968|REF_RGD_ID:1357410 12151720 NPY neuropeptide Y gene DOID:10763 hypertension ISO RGD:730830 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L7P (human) PMID:11689216|REF_RGD_ID:1580177 12151720 NPY neuropeptide Y gene DOID:11832 visual epilepsy ISO RGD:3197 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:21915341|REF_RGD_ID:10448927 12151720 NPY neuropeptide Y gene DOID:11832 visual epilepsy treatment ISO RGD:730830 D RGD:9068941 20200609 RGD PMID:19038255|REF_RGD_ID:10448944 12151720 NPY neuropeptide Y gene DOID:12858 Huntington's disease ISO RGD:11016 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus PMID:23697793|REF_RGD_ID:10433112 12151720 NPY neuropeptide Y gene DOID:12858 Huntington's disease ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:1710657|REF_RGD_ID:10433553 12151720 NPY neuropeptide Y gene DOID:12858 Huntington's disease no_association ISO RGD:730830 D RGD:9068941 20200609 RGD DNA:SNP: :rs16147 (human) PMID:24121255|REF_RGD_ID:10431606 12151720 NPY neuropeptide Y gene DOID:12858 Huntington's disease onset ISO RGD:730830 D RGD:9068941 20200609 RGD DNA:SNP: :rs3037354 (human) PMID:24121255|REF_RGD_ID:10431606 12151720 NPY neuropeptide Y gene DOID:1287 cardiovascular system disease ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9812770 12151720 NPY neuropeptide Y gene DOID:1307 dementia ISO RGD:730830 D RGD:9068941 20200609 RGD associated with Parkinson Disease;protein:decreased expression:cerebral cortex PMID:2903567|REF_RGD_ID:10433462 12151720 NPY neuropeptide Y gene DOID:1574 alcohol use disorder ISO RGD:3197 D RGD:9068941 20200609 RGD DNA:deletion:intron:g.4666_4674del (rat) PMID:15749341|REF_RGD_ID:1357412 12151720 NPY neuropeptide Y gene DOID:1574 alcohol use disorder ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17572454 12151720 NPY neuropeptide Y gene DOID:1574 alcohol use disorder ISO RGD:730830 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.L7P (human) PMID:12215082|REF_RGD_ID:10430830 12151720 NPY neuropeptide Y gene DOID:1596 depressive disorder ISO RGD:3197 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus, prefrontal cortex PMID:22406386|REF_RGD_ID:10448940 12151720 NPY neuropeptide Y gene DOID:1596 depressive disorder ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17572454|PMID:9729278 12151720 NPY neuropeptide Y gene DOID:1596 depressive disorder ISO RGD:730830 D RGD:9068941 20200609 RGD DNA:snp, missense mutation:promoter, cds:g.-399T>C, p.L7P (human) PMID:14757324|REF_RGD_ID:1358535 12151720 NPY neuropeptide Y gene DOID:1596 depressive disorder treatment ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:19623606|REF_RGD_ID:10448937 12151720 NPY neuropeptide Y gene DOID:1824 status epilepticus ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:19270346|REF_RGD_ID:10448969 12151720 NPY neuropeptide Y gene DOID:1825 childhood absence epilepsy treatment ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:24039965|REF_RGD_ID:10448964 12151720 NPY neuropeptide Y gene DOID:1825 childhood absence epilepsy treatment ISO RGD:730830 D RGD:9068941 20200609 RGD PMID:17331209|REF_RGD_ID:10448963 12151720 NPY neuropeptide Y gene DOID:1826 epilepsy ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20064661|PMID:8868293 12151720 NPY neuropeptide Y gene DOID:1936 atherosclerosis severity ISO RGD:11016 D RGD:9068941 20200609 RGD PMID:21468772|REF_RGD_ID:10448273 12151720 NPY neuropeptide Y gene DOID:2030 anxiety disorder ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11440811 12151720 NPY neuropeptide Y gene DOID:2030 anxiety disorder susceptibility ISO RGD:730830 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes PMID:22328461|REF_RGD_ID:6480264 12151720 NPY neuropeptide Y gene DOID:2349 arteriosclerosis ISO RGD:730830 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L7P (human) PMID:11689216|REF_RGD_ID:1580177 12151720 NPY neuropeptide Y gene DOID:2841 asthma ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9731035 12151720 NPY neuropeptide Y gene DOID:303 substance-related disorder ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19063928 12151720 NPY neuropeptide Y gene DOID:3328 temporal lobe epilepsy ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15716408 12151720 NPY neuropeptide Y gene DOID:3328 temporal lobe epilepsy treatment ISO RGD:730830 D RGD:9068941 20200609 RGD PMID:18477594|REF_RGD_ID:10434563 12151720 NPY neuropeptide Y gene DOID:3526 cerebral infarction ISO RGD:3197 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:17123484|REF_RGD_ID:10448931 12151720 NPY neuropeptide Y gene DOID:3526 cerebral infarction ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11821007 12151720 NPY neuropeptide Y gene DOID:4483 rhinitis ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12746121 12151720 NPY neuropeptide Y gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:730830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12151720 NPY neuropeptide Y gene DOID:571 median neuropathy ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:19456245|REF_RGD_ID:10448955 12151720 NPY neuropeptide Y gene DOID:574 peripheral nervous system disease ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17686523 12151720 NPY neuropeptide Y gene DOID:6000 congestive heart failure ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:17804485|REF_RGD_ID:7175103 12151720 NPY neuropeptide Y gene DOID:630 genetic disease ISO RGD:730830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151720 NPY neuropeptide Y gene DOID:9000040 Hypertrophy ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9812770 12151720 NPY neuropeptide Y gene DOID:9000099 Experimental Colitis treatment ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:20533056|REF_RGD_ID:10448943 12151720 NPY neuropeptide Y gene DOID:9000503 Nasal Obstruction ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9288221 12151720 NPY neuropeptide Y gene DOID:9000808 Hypercholesterolemia ISO RGD:730830 D RGD:9068941 20200609 RGD associated with Obesity;DNA:missense mutation:cds:p.L7P (human) PMID:11689216|REF_RGD_ID:1580177 12151720 NPY neuropeptide Y gene DOID:9000998 Brain Injuries ISO RGD:3197 D RGD:9068941 20200609 RGD protein:increased expression:adrenal medulla PMID:23570732|REF_RGD_ID:10448961 12151720 NPY neuropeptide Y gene DOID:9001109 Anorexia ISO RGD:3197 D RGD:9068941 20200609 RGD associated with Neoplasms PMID:17234300|REF_RGD_ID:10448965 12151720 NPY neuropeptide Y gene DOID:9001109 Anorexia ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16084549|PMID:16101753|PMID:25825358 12151720 NPY neuropeptide Y gene DOID:9001480 Muscle Rigidity ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10675796 12151720 NPY neuropeptide Y gene DOID:9001981 Weight Loss ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25825358 12151720 NPY neuropeptide Y gene DOID:9002211 Hyperalgesia treatment ISO RGD:3197 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:19556004|REF_RGD_ID:10448929 12151720 NPY neuropeptide Y gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:730830 D RGD:9068941 20210709 CTD CTD Direct Evidence: therapeutic PMID:32956829 12151720 NPY neuropeptide Y gene DOID:9002362 Hyperkinesis ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19063928 12151720 NPY neuropeptide Y gene DOID:9002676 Cerebral Hemorrhage ISO RGD:3197 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:15068713|REF_RGD_ID:1580182 12151720 NPY neuropeptide Y gene DOID:9004086 AIDS Dementia Complex severity ISO RGD:730830 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:8815163|REF_RGD_ID:10431910 12151720 NPY neuropeptide Y gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:730830 D RGD:9068941 20200609 RGD in dialysis patients with a NPY receptor Y2 mutation PMID:20543711|REF_RGD_ID:7175091 12151720 NPY neuropeptide Y gene DOID:9004663 Intestinal Ischemia ISO RGD:3197 D RGD:9068941 20200609 RGD associated with Brain Injuries;mRNA, protein:increased expression:jejunum, plasma PMID:23622727|REF_RGD_ID:10448970 12151720 NPY neuropeptide Y gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19063928 12151720 NPY neuropeptide Y gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3197 D RGD:9068941 20200609 RGD protein:increased expression:paraventricular nucleus of hypothalamus PMID:21042571|REF_RGD_ID:10448960 12151720 NPY neuropeptide Y gene DOID:9005930 Endotoxemia treatment ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:15342191|REF_RGD_ID:1580787 12151720 NPY neuropeptide Y gene DOID:9006709 Primary Graft Dysfunction ISO RGD:3197 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:blood, mononuclear cell PMID:18981110|REF_RGD_ID:10448956 12151720 NPY neuropeptide Y gene DOID:9007651 Chronic Bronchitis ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9731035 12151720 NPY neuropeptide Y gene DOID:9007956 Febrile Seizures ISO RGD:3197 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus (rat) PMID:15800380|REF_RGD_ID:1580179 12151720 NPY neuropeptide Y gene DOID:9008023 Memory Disorders ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2611661 12151720 NPY neuropeptide Y gene DOID:9352 type 2 diabetes mellitus ISO RGD:730830 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L7P (human) PMID:15926114|REF_RGD_ID:1580183 12151720 NPY neuropeptide Y gene DOID:9970 obesity ISO RGD:3197 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hypothalamus PMID:17447163|REF_RGD_ID:10448938 12151727 HTRA4 HtrA serine peptidase 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1350689 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12151727 HTRA4 HtrA serine peptidase 4 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1350689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 12151727 HTRA4 HtrA serine peptidase 4 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1350689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 12151727 HTRA4 HtrA serine peptidase 4 gene DOID:607 paraplegia ISO RGD:1350689 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12151727 HTRA4 HtrA serine peptidase 4 gene DOID:630 genetic disease ISO RGD:1350689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151739 TSC22D2 TSC22 domain family member 2 gene DOID:0050579 glycogen storage disease XV ISO RGD:1602336 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12151739 TSC22D2 TSC22 domain family member 2 gene DOID:630 genetic disease ISO RGD:1602336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151751 CDC123 cell division cycle 123 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:733862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12151751 CDC123 cell division cycle 123 gene DOID:630 genetic disease ISO RGD:733862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151771 TIMM22 translocase of inner mitochondrial membrane 22 gene DOID:0112116 combined oxidative phosphorylation deficiency 43 ISO RGD:1345582 D RGD:7240710 20200429 OMIM 12151771 TIMM22 translocase of inner mitochondrial membrane 22 gene DOID:0112116 combined oxidative phosphorylation deficiency 43 ISO RGD:1345582 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 43 PMID:22638997|PMID:25741868|PMID:30452684 12151771 TIMM22 translocase of inner mitochondrial membrane 22 gene DOID:630 genetic disease ISO RGD:1345582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151779 BOC BOC cell adhesion associated, oncogene regulated gene DOID:4621 holoprosencephaly ISO RGD:1605311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28677295 12151779 BOC BOC cell adhesion associated, oncogene regulated gene DOID:630 genetic disease ISO RGD:1605311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151779 BOC BOC cell adhesion associated, oncogene regulated gene DOID:9008443 Colorectal Neoplasms ISO RGD:1605311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 12151779 BOC BOC cell adhesion associated, oncogene regulated gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12151816 GJC3 gap junction protein gamma 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1553447 D RGD:9068941 20200609 RGD PMID:16481432|REF_RGD_ID:1578421 12151816 GJC3 gap junction protein gamma 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12151816 GJC3 gap junction protein gamma 3 gene DOID:630 genetic disease ISO RGD:1353703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151823 MTMR11 myotubularin related protein 11 gene DOID:0111940 immunodeficiency 42 ISO RGD:1605703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12151823 MTMR11 myotubularin related protein 11 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12151823 MTMR11 myotubularin related protein 11 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12151823 MTMR11 myotubularin related protein 11 gene DOID:1540 parathyroid carcinoma ISO RGD:1605703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12151823 MTMR11 myotubularin related protein 11 gene DOID:5812 MHC class II deficiency ISO RGD:1605703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12151823 MTMR11 myotubularin related protein 11 gene DOID:630 genetic disease ISO RGD:1605703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151823 MTMR11 myotubularin related protein 11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12151847 HDGFL1 HDGF like 1 gene DOID:630 genetic disease ISO RGD:1344578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:0060642 recessive dystrophic epidermolysis bullosa ISO RGD:1322869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive | ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa PMID:10084325|PMID:10367729|PMID:10383749|PMID:10408773|PMID:10469344|PMID:1050445|PMID:10504458|PMID:10583163|PMID:10836608|PMID:10944088|PMID:11000732|PMID:11167698|PMID:11378329|PMID:11722462|PMID:11781296|PMID:11843659|PMID:11874498|PMID:12207583|PMID:12485454|PMID:12653705|PMID:12735646|PMID:12787275|PMID:12813757|PMID:15816848|PMID:15888141|PMID:16189623|PMID:16199547|PMID:16271705|PMID:16439963|PMID:16484981|PMID:16965329|PMID:16971478|PMID:17425959|PMID:17495952|PMID:17501948|PMID:17576681|PMID:17916216|PMID:18030675|PMID:18414213|PMID:18429782|PMID:18440202|PMID:18450758|PMID:18558993|PMID:18565177|PMID:18951764|PMID:19344236|PMID:19439919|PMID:19643583|PMID:19665875|PMID:19681861|PMID:19694003|PMID:19694005|PMID:20184583|PMID:20357813|PMID:20555349|PMID:20598510|PMID:20920254|PMID:21113014|PMID:21124339|PMID:21382783|PMID:21448560|PMID:21471992|PMID:22058051|PMID:22209565|PMID:22266148|PMID:23237810|PMID:23786535|PMID:23947675|PMID:24032424|PMID:24033266|PMID:24210835|PMID:24213372|PMID:24252097|PMID:24279917|PMID:24317394|PMID:24599399|PMID:24947307|PMID:25155989|PMID:25525159|PMID:25741868|PMID:26076072|PMID:26102279|PMID:26143532|PMID:26148662|PMID:26446410|PMID:26467025|PMID:26707537|PMID:26763448|PMID:26833212|PMID:26864810|PMID:27153395|PMID:27408687|PMID:27544590|PMID:27746867|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29130490|PMID:29334134|PMID:29473190|PMID:29500833|PMID:29512197|PMID:29531004|PMID:30280950|PMID:31001817|PMID:31634165|PMID:31670143|PMID:31786163|PMID:31930626|PMID:32484238|PMID:32860008|PMID:33274474|PMID:33502061|PMID:35979658|PMID:7577595|PMID:7695699|PMID:7833933|PMID:7883979|PMID:8037207|PMID:8088783|PMID:8218237|PMID:8345225|PMID:8513326|PMID:8592061|PMID:8618004|PMID:8644729|PMID:8644730|PMID:8755915|PMID:8900535|PMID:9215684|PMID:9242516|PMID:9326325|PMID:9347800|PMID:9536098|PMID:9666834|PMID:9668111|PMID:9740253|PMID:9804332|PMID:9856844|PMID:9881948 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:0080082 nonsyndromic congenital nail disorder 4 ISO RGD:1322869 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Anonychia PMID:10408773|PMID:11781296|PMID:12485454|PMID:12787275|PMID:15888141|PMID:16965329|PMID:16971478|PMID:19681861|PMID:20598510|PMID:22266148|PMID:24033266|PMID:25741868|PMID:26076072|PMID:26148662|PMID:28492532|PMID:35979658|PMID:8755915|PMID:9881948 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:0080086 nonsyndromic congenital nail disorder 8 ISO RGD:1322869 D RGD:7240710 20180130 OMIM 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:0080086 nonsyndromic congenital nail disorder 8 ISO RGD:1322869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 8 | ClinVar Annotator: match by term: TOENAIL DYSTROPHY, ISOLATED PMID:10408773|PMID:10469344|PMID:10836608|PMID:11781296|PMID:11843659|PMID:12485454|PMID:12735646|PMID:12787275|PMID:15888141|PMID:16965329|PMID:16971478|PMID:17434045|PMID:18429782|PMID:19344236|PMID:19665875|PMID:19681861|PMID:20598510|PMID:22058051|PMID:22266148|PMID:24033266|PMID:25741868|PMID:26076072|PMID:26148662|PMID:26467025|PMID:28492532|PMID:28830826|PMID:30280950|PMID:32860008|PMID:35979658|PMID:7577595|PMID:7695699|PMID:8218237|PMID:8755915|PMID:9856844|PMID:9881948 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa ISO RGD:1322869 D RGD:7240710 20180130 OMIM 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa ISO RGD:1322869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant PMID:10084325|PMID:10232408|PMID:10233777|PMID:10408773|PMID:10469344|PMID:10504458|PMID:10836608|PMID:11781296|PMID:11874498|PMID:11952672|PMID:12485454|PMID:12735646|PMID:12787275|PMID:14616374|PMID:15888141|PMID:16189623|PMID:16484981|PMID:16557343|PMID:1680286|PMID:16965329|PMID:16971478|PMID:17336503|PMID:17425959|PMID:17576681|PMID:18429782|PMID:19197535|PMID:19344236|PMID:19665875|PMID:19681861|PMID:20598510|PMID:21448560|PMID:22058051|PMID:22266148|PMID:24033266|PMID:24794830|PMID:25741868|PMID:26076072|PMID:26148662|PMID:26467025|PMID:28492532|PMID:28830826|PMID:30280950|PMID:32860008|PMID:35979658|PMID:7577595|PMID:7695699|PMID:7861014|PMID:8170945|PMID:8218237|PMID:8288900|PMID:8345225|PMID:8644729|PMID:8755915|PMID:9215684|PMID:9347800|PMID:9536098|PMID:9668111|PMID:9856843|PMID:9856844|PMID:9881948|PMID:9892921 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:0080988 pretibial dystrophic epidermolysis bullosa ISO RGD:1322869 D RGD:7240710 20180130 OMIM 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:0080988 pretibial dystrophic epidermolysis bullosa ISO RGD:1322869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, pretibial, autosomal recessive | ClinVar Annotator: match by term: Pretibial dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: Pretibial epidermolysis bullosa PMID:10408773|PMID:10504458|PMID:10583163|PMID:10836608|PMID:11781296|PMID:12485454|PMID:12787275|PMID:15888141|PMID:16965329|PMID:16971478|PMID:17425959|PMID:18429782|PMID:19344236|PMID:19665875|PMID:19681861|PMID:20357813|PMID:20598510|PMID:21471992|PMID:22058051|PMID:22266148|PMID:24032424|PMID:24033266|PMID:24794830|PMID:24947307|PMID:25741868|PMID:26076072|PMID:26102279|PMID:26148662|PMID:26467025|PMID:26763448|PMID:26864810|PMID:28492532|PMID:28830826|PMID:30280950|PMID:32860008|PMID:35979658|PMID:7695699|PMID:7833933|PMID:7861014|PMID:8218237|PMID:8541842|PMID:8755915|PMID:8900535|PMID:9215684|PMID:9242516|PMID:9326325|PMID:9881948|PMID:9892921 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:0111345 transient bullous dermolysis of the newborn ISO RGD:1322869 D RGD:7240710 20180130 OMIM 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:0111345 transient bullous dermolysis of the newborn ISO RGD:1322869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, dominant neonatal form | ClinVar Annotator: match by term: Transient bullous dermolysis of the newborn PMID:10084325|PMID:10408773|PMID:10504458|PMID:10836608|PMID:11781296|PMID:12207583|PMID:12485454|PMID:12787275|PMID:15888141|PMID:16189623|PMID:16199547|PMID:16225626|PMID:16271705|PMID:16965329|PMID:16971478|PMID:17434045|PMID:17501948|PMID:18429782|PMID:19344236|PMID:19665875|PMID:19681861|PMID:20184583|PMID:20598510|PMID:21448560|PMID:22058051|PMID:22209565|PMID:22266148|PMID:23786535|PMID:24033266|PMID:24317394|PMID:24533879|PMID:24599399|PMID:25741868|PMID:26076072|PMID:26148662|PMID:26467025|PMID:2653224|PMID:28492532|PMID:28830826|PMID:30280950|PMID:31001817|PMID:31670143|PMID:32484238|PMID:32860008|PMID:35979658|PMID:7695699|PMID:8218237|PMID:8755915|PMID:9326325|PMID:9406826|PMID:9740253|PMID:9856844|PMID:9881948 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:0111347 epidermolysis bullosa with congenital localized absence of skin and deformity of nails ISO RGD:1322869 D RGD:7240710 20180130 OMIM 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:0111347 epidermolysis bullosa with congenital localized absence of skin and deformity of nails ISO RGD:1322869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE PMID:10408773|PMID:10836608|PMID:11710955|PMID:11781296|PMID:11843659|PMID:12485454|PMID:12787275|PMID:15888141|PMID:16965329|PMID:16971478|PMID:18429782|PMID:19344236|PMID:19665875|PMID:19681861|PMID:20598510|PMID:22058051|PMID:22266148|PMID:24033266|PMID:2425097|PMID:25741868|PMID:26076072|PMID:26148662|PMID:26467025|PMID:28492532|PMID:28830826|PMID:29963685|PMID:30280950|PMID:32860008|PMID:35979658|PMID:5910871|PMID:7695699|PMID:8218237|PMID:8618021|PMID:8752681|PMID:8755915|PMID:9881948 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:10907 microcephaly ISO RGD:1322869 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:12787275|PMID:22266148|PMID:25741868|PMID:28492532|PMID:28830826|PMID:32860008|PMID:35979658 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:11720 distal myopathy ISO RGD:1322869 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type PMID:12787275|PMID:22266148|PMID:25741868|PMID:28492532|PMID:28830826|PMID:32860008|PMID:35979658 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:2187 amelogenesis imperfecta ISO RGD:1322869 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 PMID:16484981|PMID:25741868|PMID:28492532 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:3908 lung non-small cell carcinoma ISO RGD:1322869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:4603 epidermolytic hyperkeratosis ISO RGD:1322869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma PMID:28492532 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:4959 epidermolysis bullosa dystrophica IAGP D RGD:12801476 20211013 OMIA Epidermolysis bullosa, dystrophic PMID:8547021|PMID:10886525|PMID:16119884|PMID:21697889|PMID:12874109|PMID:28493971|PMID:33291836|PMID:34606885 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:4959 epidermolysis bullosa dystrophica ISO RGD:1322869 D RGD:7240710 20180130 OMIM 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:4959 epidermolysis bullosa dystrophica ISO RGD:1322869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica | ClinVar Annotator: match by term: Hallopeau-Siemens Disease PMID:10084325|PMID:10383749|PMID:10408773|PMID:10469344|PMID:10504458|PMID:10836608|PMID:10944088|PMID:10980546|PMID:11167698|PMID:11710955|PMID:11781296|PMID:11843659|PMID:11874498|PMID:12207583|PMID:12485454|PMID:12653705|PMID:12735646|PMID:12787275|PMID:12813757|PMID:15550148|PMID:15816848|PMID:15888141|PMID:16189623|PMID:16199547|PMID:16271705|PMID:16439963|PMID:16484981|PMID:16500083|PMID:16965329|PMID:16971478|PMID:17282977|PMID:17425959|PMID:17495952|PMID:17501948|PMID:17576681|PMID:17916216|PMID:18030675|PMID:18414213|PMID:18429782|PMID:18440202|PMID:18450758|PMID:18558993|PMID:18565177|PMID:18951764|PMID:19344236|PMID:19439919|PMID:19665875|PMID:19681861|PMID:19694003|PMID:19694005|PMID:19726672|PMID:19814614|PMID:20108398|PMID:20108428|PMID:20184583|PMID:20357813|PMID:20585476|PMID:20598510|PMID:20920254|PMID:21124339|PMID:21448560|PMID:21471992|PMID:22058051|PMID:22070715|PMID:22209565|PMID:22266148|PMID:23237810|PMID:23786535|PMID:23947675|PMID:24032424|PMID:24033266|PMID:24210835|PMID:2425097|PMID:24252097|PMID:24279917|PMID:24577406|PMID:24794830|PMID:24831336|PMID:24947307|PMID:25155989|PMID:25525159|PMID:25556825|PMID:25741868|PMID:25819062|PMID:25913354|PMID:26076072|PMID:26102279|PMID:26148662|PMID:26467025|PMID:26763448|PMID:26864810|PMID:27153395|PMID:27544590|PMID:27746867|PMID:27899325|PMID:28492532|PMID:28830826|PMID:28853495|PMID:29130490|PMID:29334134|PMID:29427316|PMID:29473190|PMID:29500833|PMID:29963685|PMID:30280950|PMID:31001817|PMID:31090061|PMID:31930626|PMID:32484238|PMID:32860008|PMID:33274474|PMID:34046686|PMID:35979658|PMID:5910871|PMID:7577595|PMID:7695699|PMID:7833933|PMID:7861014|PMID:8037207|PMID:8088783|PMID:8218237|PMID:8345225|PMID:8618004|PMID:8618018|PMID:8618021|PMID:8644729|PMID:8644730|PMID:8752681|PMID:8755915|PMID:8900535|PMID:9042157|PMID:9242516|PMID:9326325|PMID:9347800|PMID:9536098|PMID:9666834|PMID:9668111|PMID:9740253|PMID:9804332|PMID:9856844|PMID:9881948|PMID:9892921 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:4959 epidermolysis bullosa dystrophica susceptibility ISO RGD:1322869 D RGD:9068941 20200609 RGD DNA:insertion-deletion PMID:8275094|REF_RGD_ID:1600946 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1322869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10504458|PMID:11710955|PMID:16971478|PMID:17425959|PMID:18414213|PMID:19344236|PMID:20920254|PMID:21448560|PMID:22058051|PMID:23786535|PMID:23947675|PMID:2425097|PMID:24252097|PMID:25741868|PMID:28492532|PMID:29963685|PMID:35979658|PMID:5910871|PMID:7695699|PMID:8218237|PMID:8618021|PMID:8752681|PMID:9326325 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:687 hepatoblastoma ISO RGD:1322869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:9000918 Disease Progression ISO RGD:1322869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:9001276 Failure to Thrive ISO RGD:1322869 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:12787275|PMID:22266148|PMID:25741868|PMID:28492532|PMID:28830826|PMID:32860008|PMID:35979658 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1322869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1322869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:9003984 Hyperpigmentation ISO RGD:1322869 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hyperpigmentation PMID:12787275|PMID:22266148|PMID:25741868|PMID:28492532|PMID:28830826|PMID:32860008|PMID:35979658 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:9004739 Cicatrix ISO RGD:1322869 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Scarring PMID:12787275|PMID:22266148|PMID:25741868|PMID:28492532|PMID:28830826|PMID:32860008|PMID:35979658 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:9005879 Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant ISO RGD:1322869 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant PMID:10408773|PMID:10504458|PMID:11781296|PMID:12485454|PMID:12787275|PMID:15888141|PMID:16271705|PMID:16484981|PMID:16965329|PMID:16971478|PMID:17576681|PMID:18565177|PMID:19344236|PMID:19681861|PMID:20598510|PMID:22058051|PMID:22266148|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31001817|PMID:31930626|PMID:35979658|PMID:7695699|PMID:8218237|PMID:8755915|PMID:9536098|PMID:9804332 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:9006711 Epidermolysis Bullosa Pruriginosa ISO RGD:1322869 D RGD:7240710 20180130 OMIM 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:9006711 Epidermolysis Bullosa Pruriginosa ISO RGD:1322869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal recessive PMID:10367729|PMID:10383749|PMID:10408773|PMID:10504458|PMID:10836608|PMID:11781296|PMID:12485454|PMID:12787275|PMID:15888141|PMID:16199547|PMID:16271705|PMID:16965329|PMID:16971478|PMID:17434045|PMID:17576681|PMID:18429782|PMID:19344236|PMID:19665875|PMID:19681861|PMID:20598510|PMID:21448560|PMID:22058051|PMID:22209565|PMID:22266148|PMID:24033266|PMID:25741868|PMID:26076072|PMID:26148662|PMID:26467025|PMID:27899325|PMID:28492532|PMID:28830826|PMID:30280950|PMID:32484238|PMID:32860008|PMID:35979658|PMID:7695699|PMID:8218237|PMID:8755915|PMID:9182828|PMID:9242516|PMID:9326325|PMID:9536098|PMID:9718359|PMID:9856844|PMID:9881948 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:9007661 Dwarfism ISO RGD:1322869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short stature PMID:12787275|PMID:16971478|PMID:22266148|PMID:25741868|PMID:26076072|PMID:26148662|PMID:28492532|PMID:28830826|PMID:32860008|PMID:35979658|PMID:8037207|PMID:9881948 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:9008443 Colorectal Neoplasms ISO RGD:1322869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 12151869 COL7A1 collagen type VII alpha 1 chain gene DOID:9008939 Breast Neoplasms ISO RGD:1322869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 12151996 RPS17 ribosomal protein S17 gene DOID:0111890 Diamond-Blackfan anemia 4 ISO RGD:1351474 D RGD:7240710 20180130 OMIM 12151996 RPS17 ribosomal protein S17 gene DOID:0111890 Diamond-Blackfan anemia 4 ISO RGD:1351474 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 4 PMID:17647292|PMID:19953637|PMID:23718193|PMID:23812780|PMID:25741868 12151996 RPS17 ribosomal protein S17 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1351474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:17647292|PMID:19953637|PMID:25741868 12151996 RPS17 ribosomal protein S17 gene DOID:2717 Bloom syndrome ISO RGD:1351474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12151996 RPS17 ribosomal protein S17 gene DOID:9256 colorectal cancer ISO RGD:1351474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12152005 DSC2 desmocollin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1319763 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:17033975|PMID:17186466|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20197793|PMID:20400443|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21859740|PMID:23147450|PMID:23299917|PMID:23396983|PMID:23757202|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:24704780|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25447171|PMID:25569433|PMID:25637381|PMID:25741868|PMID:26138720|PMID:26332594|PMID:26656175|PMID:26743238|PMID:27153395|PMID:28255936|PMID:28471438|PMID:28492532|PMID:28798025|PMID:29367541|PMID:29802319|PMID:31024045|PMID:31042466|PMID:31333075|PMID:31402444|PMID:31568572|PMID:7971964 12152005 DSC2 desmocollin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy susceptibility ISO RGD:1319763 D RGD:9068941 20230420 RGD DNA:SNP:exon 11: c.1660C>T, p.Gln554X (human) PMID:25497880|REF_RGD_ID:243065272 12152005 DSC2 desmocollin 2 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:28492532 12152005 DSC2 desmocollin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1319763 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22722193|PMID:23147450|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23757202|PMID:23812740|PMID:23826350|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:24704780|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25637381|PMID:25741868|PMID:25819062|PMID:26138720|PMID:26220970|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26780541|PMID:27000522|PMID:27153395|PMID:27532257|PMID:27884173|PMID:27930701|PMID:28166811|PMID:28255936|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28798025|PMID:29032884|PMID:29367541|PMID:29641836|PMID:29802319|PMID:30790397|PMID:30847666|PMID:31333075|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31970460|PMID:31983221|PMID:32665702|PMID:32853555|PMID:32880476|PMID:33087929|PMID:33684294|PMID:34135346|PMID:7971964|PMID:9536098 12152005 DSC2 desmocollin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1319763 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22722193|PMID:23147450|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23671136|PMID:23757202|PMID:23810894|PMID:23812740|PMID:23826350|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25637381|PMID:25741868|PMID:25819062|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:26780541|PMID:27000522|PMID:27153395|PMID:27532257|PMID:27884173|PMID:27930701|PMID:28166811|PMID:28255936|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28798025|PMID:29032884|PMID:29255176|PMID:29367541|PMID:29590070|PMID:29641836|PMID:29750433|PMID:29802319|PMID:29970176|PMID:30122538|PMID:30790397|PMID:30847666|PMID:31042466|PMID:31333075|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31970460|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32665702|PMID:32853555|PMID:32880476|PMID:33087929|PMID:33652588|PMID:33662488|PMID:33684294|PMID:34135346|PMID:35276540|PMID:35470680|PMID:36293497|PMID:7971964|PMID:9536098 12152005 DSC2 desmocollin 2 gene DOID:0060319 cardiac arrest ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:18678517|PMID:23861362|PMID:24033266|PMID:24704780|PMID:25637381|PMID:25741868|PMID:27153395|PMID:28492532 12152005 DSC2 desmocollin 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:17033975|PMID:20031616|PMID:20031617|PMID:20197793|PMID:20400443|PMID:20716751|PMID:20829228|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21859740|PMID:23299917|PMID:23757202|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24967631|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:28255936|PMID:28492532|PMID:7971964 12152005 DSC2 desmocollin 2 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1319763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:19863551|PMID:23299917|PMID:25637381|PMID:25741868|PMID:28492532 12152005 DSC2 desmocollin 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 12152005 DSC2 desmocollin 2 gene DOID:0110082 arrhythmogenic right ventricular dysplasia 11 ISO RGD:1319763 D RGD:7240710 20180130 OMIM 12152005 DSC2 desmocollin 2 gene DOID:0110082 arrhythmogenic right ventricular dysplasia 11 ISO RGD:1319763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21220045|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22458570|PMID:22722193|PMID:23147450|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23757202|PMID:23810894|PMID:23812740|PMID:23826350|PMID:23861362|PMID:23863954|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25497880|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25819062|PMID:25820315|PMID:25825460|PMID:26138720|PMID:26220970|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:26780541|PMID:27000522|PMID:27153395|PMID:27532257|PMID:27884173|PMID:27930701|PMID:28069705|PMID:28153106|PMID:28166811|PMID:28255936|PMID:28288337|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28600387|PMID:28798025|PMID:29032884|PMID:29178656|PMID:29255176|PMID:29367541|PMID:29590070|PMID:29641836|PMID:29750433|PMID:29802319|PMID:30122538|PMID:30790397|PMID:30847666|PMID:31024045|PMID:31333075|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31484862|PMID:31534214|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31931689|PMID:31970460|PMID:31983221|PMID:32009526|PMID:32665702|PMID:32746448|PMID:32853555|PMID:32880476|PMID:33087929|PMID:33258288|PMID:33652588|PMID:33662488|PMID:33684294|PMID:33784018|PMID:34135346|PMID:35276540|PMID:7971964|PMID:9536098 12152005 DSC2 desmocollin 2 gene DOID:0110082 arrhythmogenic right ventricular dysplasia 11 ISO RGD:1319763 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21220045|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22722193|PMID:23147450|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23757202|PMID:23810894|PMID:23812740|PMID:23826350|PMID:23861362|PMID:23863954|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25497880|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25819062|PMID:25820315|PMID:25825460|PMID:26138720|PMID:26220970|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:26780541|PMID:27000522|PMID:27153395|PMID:27532257|PMID:27884173|PMID:27930701|PMID:28069705|PMID:28153106|PMID:28166811|PMID:28255936|PMID:28288337|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28600387|PMID:28798025|PMID:29032884|PMID:29178656|PMID:29255176|PMID:29367541|PMID:29590070|PMID:29641836|PMID:29750433|PMID:29802319|PMID:29970176|PMID:30122538|PMID:30790397|PMID:30847666|PMID:31024045|PMID:31042466|PMID:31333075|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31484862|PMID:31534214|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31931689|PMID:31970460|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32665702|PMID:32746448|PMID:32853555|PMID:32880476|PMID:33087929|PMID:33258288|PMID:33652588|PMID:33662488|PMID:33684294|PMID:33784018|PMID:34135346|PMID:35276540|PMID:35470680|PMID:36293497|PMID:7971964|PMID:9536098 12152005 DSC2 desmocollin 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:17033975|PMID:20031616|PMID:20031617|PMID:20197793|PMID:20400443|PMID:20716751|PMID:20829228|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21859740|PMID:23299917|PMID:23757202|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24967631|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:28255936|PMID:28492532|PMID:7971964 12152005 DSC2 desmocollin 2 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1319763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:16199547|PMID:23911551|PMID:24033266|PMID:25741868|PMID:28153106|PMID:28492532|PMID:31931689|PMID:33662488 12152005 DSC2 desmocollin 2 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:28492532 12152005 DSC2 desmocollin 2 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1319763 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:25741868|PMID:28492532 12152005 DSC2 desmocollin 2 gene DOID:1059 intellectual disability ISO RGD:1319763 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12152005 DSC2 desmocollin 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1319763 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:20031617|PMID:20152563|PMID:20400443|PMID:20716751|PMID:20857253|PMID:21606396|PMID:21636032|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:27930701|PMID:28492532|PMID:29255176|PMID:30790397|PMID:31970460 12152005 DSC2 desmocollin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 12152005 DSC2 desmocollin 2 gene DOID:2843 long QT syndrome ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12152005 DSC2 desmocollin 2 gene DOID:630 genetic disease ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12152005 DSC2 desmocollin 2 gene DOID:9002348 Primary Pigmented Nodular Adrenocortical Disease, 2 ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 2 PMID:23911551|PMID:25741868|PMID:28492532 12152005 DSC2 desmocollin 2 gene DOID:9003936 Cardiomegaly ISO RGD:1309426 D RGD:9068941 20230420 RGD protein:increased expression:heart (rat) PMID:26708424|REF_RGD_ID:264347602 12152005 DSC2 desmocollin 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy 12152005 DSC2 desmocollin 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1319763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12152005 DSC2 desmocollin 2 gene DOID:9008121 Lipoyltransferase 1 Deficiency ISO RGD:1319763 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency PMID:25637381|PMID:25741868|PMID:26656175|PMID:28492532|PMID:28798025|PMID:31042466 12152005 DSC2 desmocollin 2 gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:1309426 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 12152037 SNX2 sorting nexin 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321108 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12152037 SNX2 sorting nexin 2 gene DOID:630 genetic disease ISO RGD:1321108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152037 SNX2 sorting nexin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12152037 SNX2 sorting nexin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321108 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12152037 SNX2 sorting nexin 2 gene DOID:9007386 Congenital Lower Urinary Tract Obstruction ISO RGD:1321108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital PMID:31690835 12152061 POLR1E RNA polymerase I subunit E gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1602318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12152061 POLR1E RNA polymerase I subunit E gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1602318 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12152061 POLR1E RNA polymerase I subunit E gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1602318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12152061 POLR1E RNA polymerase I subunit E gene DOID:630 genetic disease ISO RGD:1602318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152061 POLR1E RNA polymerase I subunit E gene DOID:9562 primary ciliary dyskinesia ISO RGD:1602318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12152061 POLR1E RNA polymerase I subunit E gene DOID:9870 galactosemia ISO RGD:1602318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12152077 CENPQ centromere protein Q gene DOID:630 genetic disease ISO RGD:1344338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152101 SLC22A6 solute carrier family 22 member 6 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:619572 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12152101 SLC22A6 solute carrier family 22 member 6 gene DOID:1059 intellectual disability ISO RGD:619572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12152101 SLC22A6 solute carrier family 22 member 6 gene DOID:182 calcinosis ISO RGD:619572 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12803500 12152101 SLC22A6 solute carrier family 22 member 6 gene DOID:630 genetic disease ISO RGD:619572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152116 URI1 URI1 prefoldin like chaperone gene DOID:305 carcinoma ISO RGD:1321217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 12152116 URI1 URI1 prefoldin like chaperone gene DOID:630 genetic disease ISO RGD:1321217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152116 URI1 URI1 prefoldin like chaperone gene DOID:9002170 Experimental Neoplasms ISO RGD:1321217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 12152116 URI1 URI1 prefoldin like chaperone gene DOID:9002762 Ovarian Neoplasms ISO RGD:1321217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:0060058 lymphoma ISO RGD:1322684 D RGD:9068941 20220812 RGD DNA:missense mutation:CDS p.D140E (rs7479004) (human) PMID:25407497|REF_RGD_ID:153323305 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1322684 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1322684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:0111621 Temtamy syndrome ISO RGD:1322684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:1059 intellectual disability ISO RGD:1322684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:12849 autistic disorder ISO RGD:1322684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30559488 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:1324 lung cancer ISO RGD:1322684 D RGD:9068941 20220812 RGD DNA:missense mutation:CDS p.D140E (rs7479004) (human) PMID:25407497|REF_RGD_ID:153323305 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:1324 lung cancer ameliorates ISO RGD:1322684 D RGD:9068941 20220812 RGD mRNA:increased expression:lung (human) PMID:30031117|REF_RGD_ID:153323309 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:1612 breast cancer ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:breast (human) PMID:28486105|REF_RGD_ID:153323299 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:1993 rectum cancer ISO RGD:1322684 D RGD:9068941 20220812 RGD DNA:missense mutation:CDS p.D140E (rs7479004) (human) PMID:25407497|REF_RGD_ID:153323305 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:1996 rectum adenocarcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:rectum (human) PMID:28486105|REF_RGD_ID:153323299 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:1322684 D RGD:9068941 20220811 RGD human cells in a mouse model PMID:28486105|REF_RGD_ID:153323299 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:2526 prostate adenocarcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:decreased expression:prostate gland (human) PMID:28486105|REF_RGD_ID:153323299 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:2876 laryngeal squamous cell carcinoma exacerbates ISO RGD:1322684 D RGD:9068941 20220812 RGD mRNA:increased expression:larynx (human) PMID:33315534|REF_RGD_ID:153323310 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:lung (human) PMID:28486105|REF_RGD_ID:153323299 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:lung (human) PMID:28486105|REF_RGD_ID:153323299 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1322684 D RGD:9068941 20220812 RGD human cells in a mouse model PMID:32228507|REF_RGD_ID:153323307 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1322684 D RGD:9068941 20220812 RGD DNA:missense mutation:CDS:p.D140E (rs7479004) (human) PMID:29667179|REF_RGD_ID:151660359 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:decreased expression:kidney (human) PMID:28486105|REF_RGD_ID:153323299 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:5419 schizophrenia ISO RGD:1322684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:head or neck skin (human) PMID:28486105|REF_RGD_ID:153323299 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:630 genetic disease ISO RGD:1322684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20693977|PMID:22302795|PMID:24348274|PMID:25849321|PMID:26116663|PMID:27418512|PMID:27479907|PMID:27616479|PMID:28135719|PMID:28492532|PMID:9536098 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:liver (human) PMID:28486105|REF_RGD_ID:153323299 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1322684 D RGD:9068941 20220812 RGD mRNA:increased expression:liver (human) PMID:32070428|REF_RGD_ID:153323308 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1322684 D RGD:9068941 20220812 RGD protein:increased expression:liver (human) PMID:26095183|REF_RGD_ID:11571740 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:9000217 Stomach Neoplasms ISO RGD:1322684 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35362730 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1322684 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35362730 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:9005172 Lung Neoplasms ISO RGD:1322684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30008631 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:1322684 D RGD:9068941 20220811 RGD associated with human colon adenocarcinoma cells in a mouse model PMID:28486105|REF_RGD_ID:153323299 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:9006728 Triple Negative Breast Neoplasms exacerbates ISO RGD:1322684 D RGD:9068941 20220812 RGD protein:increased expression:breast (human) PMID:29305962|REF_RGD_ID:153323306 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1322684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1322684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1322684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:9008154 SIFRIM-HITZ-WEISS SYNDROME ISO RGD:1322684 D RGD:7240710 20190315 OMIM 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:9008154 SIFRIM-HITZ-WEISS SYNDROME ISO RGD:1322684 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHD4-Related Disorder | ClinVar Annotator: match by term: Sifrim-Hitz-Weiss syndrome PMID:25741868|PMID:27616479|PMID:28492532|PMID:31388190 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:9009121 lung metastasis ameliorates ISO RGD:1322684 D RGD:9068941 20220811 RGD associated with human colon adenocarcinoma cells in a mouse model PMID:28486105|REF_RGD_ID:153323299 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:9256 colorectal cancer ISO RGD:1322684 D RGD:9068941 20220812 RGD PMID:28486105|REF_RGD_ID:153323299 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1322684 D RGD:9068941 20220812 RGD mRNA:increased expression:lymph node (human) PMID:29467924|REF_RGD_ID:153323304 12152135 CHD4 chromodomain helicase DNA binding protein 4 gene DOID:936 brain disease ISO RGD:1322684 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 12152193 HGD homogentisate 1,2-dioxygenase gene DOID:630 genetic disease ISO RGD:1318713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12152193 HGD homogentisate 1,2-dioxygenase gene DOID:9000709 Hereditary Ochronosis ISO RGD:1318713 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Ochronosis, hereditary PMID:10205262|PMID:10340975|PMID:10482952|PMID:10594001|PMID:19096913|PMID:19862842|PMID:20301627|PMID:23430897|PMID:25741868|PMID:28492532|PMID:9529363 12152193 HGD homogentisate 1,2-dioxygenase gene DOID:9006239 Alkaptonuric Ochronosis ISO RGD:1318713 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Alkaptonuric ochronosis PMID:10205262|PMID:10340975|PMID:10482952|PMID:10594001|PMID:19096913|PMID:19862842|PMID:20301627|PMID:23430897|PMID:25741868|PMID:28492532|PMID:9529363 12152193 HGD homogentisate 1,2-dioxygenase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1318713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12152193 HGD homogentisate 1,2-dioxygenase gene DOID:9270 alkaptonuria ISO RGD:1318713 D RGD:7240710 20180130 OMIM 12152193 HGD homogentisate 1,2-dioxygenase gene DOID:9270 alkaptonuria ISO RGD:1318713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alkaptonuria | ClinVar Annotator: match by term: Homogentisic acidura PMID:1001939|PMID:10205262|PMID:10340975|PMID:10482952|PMID:10594001|PMID:10819641|PMID:10970188|PMID:11001939|PMID:11017803|PMID:12051967|PMID:12114497|PMID:12501223|PMID:12872815|PMID:12872836|PMID:1360590|PMID:14978662|PMID:16085442|PMID:16199547|PMID:17576681|PMID:18945288|PMID:19096913|PMID:19306858|PMID:19862842|PMID:20301627|PMID:20462779|PMID:2114497|PMID:21437689|PMID:21720873|PMID:21822197|PMID:23353776|PMID:23430897|PMID:23519186|PMID:25233259|PMID:25525159|PMID:25681086|PMID:25741868|PMID:25804398|PMID:26960557|PMID:27026014|PMID:28492532|PMID:30737480|PMID:31927521|PMID:33621656|PMID:34008892|PMID:34686677|PMID:8782815|PMID:9154114|PMID:9529363|PMID:9536098|PMID:9630082|PMID:9674916 12152211 LOC478649 5-hydroxytryptamine receptor 3C-like gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1344328 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12152211 LOC478649 5-hydroxytryptamine receptor 3C-like gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1344328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12152211 LOC478649 5-hydroxytryptamine receptor 3C-like gene DOID:0111546 Currarino syndrome ISO RGD:1344328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12152211 LOC478649 5-hydroxytryptamine receptor 3C-like gene DOID:630 genetic disease ISO RGD:1344328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152222 NUDT13 nudix hydrolase 13 gene DOID:630 genetic disease ISO RGD:1349007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152242 TYW3 tRNA-yW synthesizing protein 3 homolog gene DOID:630 genetic disease ISO RGD:1603913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152252 PPP4R1 protein phosphatase 4 regulatory subunit 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:735851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12152252 PPP4R1 protein phosphatase 4 regulatory subunit 1 gene DOID:1059 intellectual disability ISO RGD:735851 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12152252 PPP4R1 protein phosphatase 4 regulatory subunit 1 gene DOID:543 dystonia ISO RGD:735851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 12152252 PPP4R1 protein phosphatase 4 regulatory subunit 1 gene DOID:630 genetic disease ISO RGD:735851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152281 PRPF8 pre-mRNA processing factor 8 gene DOID:0060673 Peters anomaly ISO RGD:1313510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459 12152281 PRPF8 pre-mRNA processing factor 8 gene DOID:0110381 retinitis pigmentosa 14 ISO RGD:1313510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 14 12152281 PRPF8 pre-mRNA processing factor 8 gene DOID:0110403 retinitis pigmentosa 13 ISO RGD:1313510 D RGD:7240710 20180130 OMIM 12152281 PRPF8 pre-mRNA processing factor 8 gene DOID:0110403 retinitis pigmentosa 13 ISO RGD:1313510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 13 PMID:11468273|PMID:11910553|PMID:12714658|PMID:16799052|PMID:17061239|PMID:17576681|PMID:18695108|PMID:20232351|PMID:21378395|PMID:22039234|PMID:23484092|PMID:23950152|PMID:24938718|PMID:25741868|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28515276|PMID:29087248|PMID:30360737|PMID:31725702|PMID:32424050|PMID:33576794|PMID:9536098 12152281 PRPF8 pre-mRNA processing factor 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1313510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11468273|PMID:12714658|PMID:16799052|PMID:17576681|PMID:21378395|PMID:24938718|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28515276|PMID:30718709|PMID:31725702|PMID:9536098 12152281 PRPF8 pre-mRNA processing factor 8 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12152281 PRPF8 pre-mRNA processing factor 8 gene DOID:630 genetic disease ISO RGD:1313510 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19344873|PMID:27535533|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28798898|PMID:33157387|PMID:33598457|PMID:33781268|PMID:34321860 12152281 PRPF8 pre-mRNA processing factor 8 gene DOID:8501 fundus dystrophy ISO RGD:1313510 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11468273|PMID:11910553|PMID:12714658|PMID:16799052|PMID:17061239|PMID:18695108|PMID:20232351|PMID:21378395|PMID:23950152|PMID:24938718|PMID:25741868|PMID:27208204|PMID:28076437|PMID:28492532|PMID:28515276|PMID:28559085|PMID:28761320|PMID:28798898|PMID:33157387|PMID:33576794|PMID:33598457|PMID:33781268|PMID:34321860 12152281 PRPF8 pre-mRNA processing factor 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12152281 PRPF8 pre-mRNA processing factor 8 gene DOID:9007096 Stroke ISO RGD:1313510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 12152281 PRPF8 pre-mRNA processing factor 8 gene DOID:9008582 Developmental Disease ISO RGD:1313510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12152328 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0060599 Nance-Horan syndrome ISO RGD:736556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12152328 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12152328 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:736556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12152328 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0111042 glycogen storage disease IXa ISO RGD:736556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12152328 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:12849 autistic disorder ISO RGD:736556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12152328 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:1826 epilepsy ISO RGD:736556 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12152328 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:736556 D RGD:7240710 20180130 OMIM 12152328 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:736556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency PMID:10679936|PMID:1301207|PMID:1338114|PMID:15384102|PMID:15473177|PMID:1779625|PMID:1909778|PMID:20002125|PMID:20002461|PMID:20691944|PMID:21846590|PMID:21914562|PMID:23021068|PMID:23871722|PMID:24718837|PMID:25590979|PMID:25741868|PMID:26467025|PMID:26865159|PMID:28492532|PMID:28639102|PMID:28918066|PMID:29756269|PMID:7692352|PMID:7887409|PMID:7981697|PMID:8032855|PMID:8504309|PMID:8598634|PMID:8962591 12152328 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:3650 lactic acidosis ISO RGD:736556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2537010 12152328 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:736556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12152328 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:630 genetic disease ISO RGD:736556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10679936|PMID:10767328|PMID:10872106|PMID:12651851|PMID:1293379|PMID:1301207|PMID:1338114|PMID:15384102|PMID:15473177|PMID:1779625|PMID:1909778|PMID:19517265|PMID:20002125|PMID:20002461|PMID:21846590|PMID:21914562|PMID:23021068|PMID:23871722|PMID:24718837|PMID:25495354|PMID:25590979|PMID:25741868|PMID:26467025|PMID:26865159|PMID:28492532|PMID:28918066|PMID:29756269|PMID:29970614|PMID:3034892|PMID:7692352|PMID:7887409|PMID:7981697|PMID:8032855|PMID:8504309|PMID:8598634|PMID:9671272 12152328 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:8398 osteoarthritis ISO RGD:736556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12152328 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:736556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12152328 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9000918 Disease Progression ISO RGD:736556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12152328 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:736556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:10486093|PMID:10679936|PMID:10767328|PMID:10775534|PMID:11102541|PMID:11241048|PMID:12379317|PMID:12551913|PMID:1293379|PMID:1301207|PMID:1338114|PMID:1508605|PMID:15384102|PMID:15473177|PMID:16199547|PMID:16713755|PMID:17043409|PMID:17172462|PMID:1770778|PMID:1779625|PMID:18023225|PMID:18197404|PMID:1907799|PMID:1909401|PMID:1909778|PMID:19639391|PMID:20002125|PMID:20002461|PMID:20591708|PMID:20691944|PMID:21846590|PMID:21914562|PMID:22142326|PMID:22473288|PMID:23021068|PMID:23871722|PMID:24718837|PMID:25326635|PMID:25356417|PMID:25495354|PMID:25590979|PMID:25741868|PMID:25741876|PMID:26467025|PMID:26633542|PMID:26865159|PMID:26987331|PMID:27896109|PMID:2828359|PMID:28492532|PMID:28639102|PMID:28918066|PMID:29756269|PMID:29882371|PMID:3034892|PMID:3137520|PMID:31673819|PMID:32005694|PMID:7573035|PMID:7692352|PMID:7887409|PMID:7981697|PMID:8024267|PMID:8032855|PMID:8199595|PMID:8504306|PMID:8504309|PMID:8598634|PMID:8771169|PMID:8844217|PMID:8962591|PMID:9266390|PMID:9618178|PMID:9671272|PMID:9686362 12152328 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:29335542 12152328 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9002994 Pyruvate Metabolism, Inborn Errors ISO RGD:736556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2378353 12152328 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12152328 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9005926 Leigh Syndrome, X-Linked ISO RGD:736556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: X-linked Leigh syndrome PMID:10679936|PMID:1301207|PMID:15384102|PMID:15473177|PMID:20002125|PMID:25590979|PMID:25741868|PMID:28492532|PMID:7887409 12152328 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9007 sudden infant death syndrome ISO RGD:736556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:20002125|PMID:20002461|PMID:24718837|PMID:25741868|PMID:28492532|PMID:28639102|PMID:8962591 12152328 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:736556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12152348 MAF1 MAF1 homolog, negative regulator of RNA polymerase III gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1601952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12152348 MAF1 MAF1 homolog, negative regulator of RNA polymerase III gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1601952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12152348 MAF1 MAF1 homolog, negative regulator of RNA polymerase III gene DOID:4621 holoprosencephaly ISO RGD:1601952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12152348 MAF1 MAF1 homolog, negative regulator of RNA polymerase III gene DOID:630 genetic disease ISO RGD:1601952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152367 LAMB4 laminin subunit beta 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1342609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12152367 LAMB4 laminin subunit beta 4 gene DOID:630 genetic disease ISO RGD:1342609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152407 SLC26A3 solute carrier family 26 member 3 gene DOID:0060296 congenital secretory chloride diarrhea 1 ISO RGD:1346275 D RGD:7240710 20180130 OMIM 12152407 SLC26A3 solute carrier family 26 member 3 gene DOID:0060296 congenital secretory chloride diarrhea 1 ISO RGD:1346275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE | ClinVar Annotator: match by term: Congenital chloride diarrhea | ClinVar Annotator: match by term: Darrow-Gamble disease PMID:10671059|PMID:10881594|PMID:11302976|PMID:11524734|PMID:12411484|PMID:12442266|PMID:16199547|PMID:18216024|PMID:18728535|PMID:18847625|PMID:19861545|PMID:21127979|PMID:21150650|PMID:21332001|PMID:21394828|PMID:21853658|PMID:22779076|PMID:23274434|PMID:23361499|PMID:23756661|PMID:24033266|PMID:24350656|PMID:25568271|PMID:25711268|PMID:25741868|PMID:27525615|PMID:28422190|PMID:28492532|PMID:28644346|PMID:29086717|PMID:30775050|PMID:31325522|PMID:31680349|PMID:8896562|PMID:9554749|PMID:9718329 12152407 SLC26A3 solute carrier family 26 member 3 gene DOID:13250 diarrhea ISO RGD:1346275 D RGD:9068941 20200609 RGD DNA:frameshift mutation, missense mutations PMID:8896562|REF_RGD_ID:1600011 12152407 SLC26A3 solute carrier family 26 member 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12152407 SLC26A3 solute carrier family 26 member 3 gene DOID:630 genetic disease ISO RGD:1346275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12152407 SLC26A3 solute carrier family 26 member 3 gene DOID:8437 intestinal obstruction ISO RGD:1346275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intestinal obstruction PMID:21394828|PMID:25741868|PMID:31680349|PMID:9718329 12152407 SLC26A3 solute carrier family 26 member 3 gene DOID:8488 polyhydramnios ISO RGD:1346275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:21394828|PMID:25741868|PMID:31680349|PMID:9718329 12152407 SLC26A3 solute carrier family 26 member 3 gene DOID:8577 ulcerative colitis ISO RGD:1346275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19915573 12152407 SLC26A3 solute carrier family 26 member 3 gene DOID:9002135 Congenital Infantile Lactic Acidosis due to LAD Deficiency ISO RGD:1346275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to PMID:28492532|PMID:8968745|PMID:9934985 12152407 SLC26A3 solute carrier family 26 member 3 gene DOID:9008386 Hydrops Fetalis ISO RGD:1346275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrops fetalis PMID:21394828|PMID:25741868|PMID:31680349|PMID:9718329 12152431 GATAD2A GATA zinc finger domain containing 2A gene DOID:630 genetic disease ISO RGD:1603219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152431 GATAD2A GATA zinc finger domain containing 2A gene DOID:9000217 Stomach Neoplasms ISO RGD:1603219 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35362730 12152431 GATAD2A GATA zinc finger domain containing 2A gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1603219 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35362730 12152463 DNAI7 dynein axonemal intermediate chain 7 gene DOID:1324 lung cancer ameliorates ISO RGD:1617228 D RGD:9068941 20220701 RGD DNA:missense mutation:CDS:p.N60S (mouse) PMID:14583591|REF_RGD_ID:152998907 12152463 DNAI7 dynein axonemal intermediate chain 7 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1617228 D RGD:9068941 20220701 RGD PMID:24860162|REF_RGD_ID:152998908 12152463 DNAI7 dynein axonemal intermediate chain 7 gene DOID:630 genetic disease ISO RGD:1322554 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152463 DNAI7 dynein axonemal intermediate chain 7 gene DOID:9005172 Lung Neoplasms ISO RGD:1322554 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:15064703 12152463 DNAI7 dynein axonemal intermediate chain 7 gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:1617228 D RGD:9068941 20220630 RGD PMID:16862160|REF_RGD_ID:11340955 12152486 PDZD8 PDZ domain containing 8 gene DOID:630 genetic disease ISO RGD:1318503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152486 PDZD8 PDZ domain containing 8 gene DOID:9003701 Intellectual Developmental Disorder with Autism and Dysmorphic Facies ISO RGD:1318503 D RGD:7240710 20221116 OMIM 12152486 PDZD8 PDZ domain containing 8 gene DOID:9003701 Intellectual Developmental Disorder with Autism and Dysmorphic Facies ISO RGD:1318503 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with autism and dysmorphic facies PMID:35227461 12152495 PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1317307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 12152495 PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:10283 prostate cancer ISO RGD:1317307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12152495 PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:2043 hepatitis B ISO RGD:1317307 D RGD:9068941 20220317 RGD associated with hepatocellular carcinoma;mRNA:increased expression:liver (human) PMID:25151370|REF_RGD_ID:151665185 12152495 PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1317307 D RGD:9068941 20220317 RGD mRNA:increased expression:lung (human) PMID:32537022|REF_RGD_ID:151665184 12152495 PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317307 D RGD:9068941 20220317 RGD mRNA:increased expression:lung (human) PMID:31711559|REF_RGD_ID:151665187 12152495 PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:4927 Klatskin's tumor sexual_dimorphism ISO RGD:1317307 D RGD:9068941 20220310 RGD DNA:substitutions, insertion/deletions: (human) PMID:33387086|REF_RGD_ID:126848756 12152495 PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:4947 cholangiocarcinoma sexual_dimorphism ISO RGD:1317307 D RGD:9068941 20220317 RGD DNA:substitutions, insertion/deletions: (human) PMID:28000796|REF_RGD_ID:151665188 12152495 PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1317307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:26614431 12152495 PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:630 genetic disease ISO RGD:1317307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12152495 PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1317307 D RGD:9068941 20220317 RGD mRNA:decreased expression:liver (human) PMID:28000796|REF_RGD_ID:151665188 12152495 PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1317307 D RGD:9068941 20220324 RGD mRNA:increased expression:liver (human) PMID:31776854|REF_RGD_ID:151665343 12152495 PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1317307 D RGD:9068941 20220317 RGD mRNA:increased expression:liver (human) PMID:25151370|REF_RGD_ID:151665185 12152495 PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1317307 D RGD:9068941 20220317 RGD protein:increased expression:liver (human) PMID:28205209|REF_RGD_ID:151665186 12152539 CD244 CD244 molecule gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:736436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12152539 CD244 CD244 molecule gene DOID:10283 prostate cancer ISO RGD:736436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12152539 CD244 CD244 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:736436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12152539 CD244 CD244 molecule gene DOID:630 genetic disease ISO RGD:736436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152539 CD244 CD244 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:736436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis PMID:18794858 12152539 CD244 CD244 molecule gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:736436 D RGD:7240710 20190329 OMIM 12152539 CD244 CD244 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12152551 CFAP126 cilia and flagella associated protein 126 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1604188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 12152551 CFAP126 cilia and flagella associated protein 126 gene DOID:0050771 pheochromocytoma ISO RGD:1604188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pheochromocytoma 12152551 CFAP126 cilia and flagella associated protein 126 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1604188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12152551 CFAP126 cilia and flagella associated protein 126 gene DOID:1540 parathyroid carcinoma ISO RGD:1604188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12152551 CFAP126 cilia and flagella associated protein 126 gene DOID:630 genetic disease ISO RGD:1604188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152551 CFAP126 cilia and flagella associated protein 126 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12152567 RASD1 ras related dexamethasone induced 1 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:731548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 12152567 RASD1 ras related dexamethasone induced 1 gene DOID:0050777 Joubert syndrome ISO RGD:731548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12152567 RASD1 ras related dexamethasone induced 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:731548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12152567 RASD1 ras related dexamethasone induced 1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:731548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12152567 RASD1 ras related dexamethasone induced 1 gene DOID:12849 autistic disorder ISO RGD:731548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12152567 RASD1 ras related dexamethasone induced 1 gene DOID:630 genetic disease ISO RGD:731548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152567 RASD1 ras related dexamethasone induced 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731548 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12152582 TFAP4 transcription factor AP-4 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1318080 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12152582 TFAP4 transcription factor AP-4 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1318080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 12152582 TFAP4 transcription factor AP-4 gene DOID:1059 intellectual disability ISO RGD:1318080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12152582 TFAP4 transcription factor AP-4 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1318080 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 12152582 TFAP4 transcription factor AP-4 gene DOID:1682 congenital heart disease ISO RGD:1318080 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 12152582 TFAP4 transcription factor AP-4 gene DOID:1826 epilepsy ISO RGD:1318080 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12152582 TFAP4 transcription factor AP-4 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318080 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12152582 TFAP4 transcription factor AP-4 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1318080 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:12114483|PMID:15706485|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12152582 TFAP4 transcription factor AP-4 gene DOID:630 genetic disease ISO RGD:1318080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152609 GNAZ G protein subunit alpha z gene DOID:11198 DiGeorge syndrome ISO RGD:733341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 12152609 GNAZ G protein subunit alpha z gene DOID:5419 schizophrenia ISO RGD:733341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12152609 GNAZ G protein subunit alpha z gene DOID:630 genetic disease ISO RGD:733341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152609 GNAZ G protein subunit alpha z gene DOID:684 hepatocellular carcinoma ISO RGD:733341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12152615 RSAD1 radical S-adenosyl methionine domain containing 1 gene DOID:630 genetic disease ISO RGD:1347932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152630 FADS6 fatty acid desaturase 6 gene DOID:630 genetic disease ISO RGD:1351054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152640 CNRIP1 cannabinoid receptor interacting protein 1 gene DOID:630 genetic disease ISO RGD:1318105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152657 FGF20 fibroblast growth factor 20 gene DOID:0060892 late onset Parkinson's disease ISO RGD:731457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:18252210|PMID:19133659 12152657 FGF20 fibroblast growth factor 20 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:731457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 12152657 FGF20 fibroblast growth factor 20 gene DOID:630 genetic disease ISO RGD:731457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152657 FGF20 fibroblast growth factor 20 gene DOID:9005509 Renal Hypodysplasia/Aplasia 2 ISO RGD:731457 D RGD:7240710 20180130 OMIM 12152657 FGF20 fibroblast growth factor 20 gene DOID:9005509 Renal Hypodysplasia/Aplasia 2 ISO RGD:731457 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 2 PMID:22698282|PMID:25741868|PMID:28492532 12152663 OR10C1 olfactory receptor family 10 subfamily C member 1 gene DOID:11372 megacolon ISO RGD:1353336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12152663 OR10C1 olfactory receptor family 10 subfamily C member 1 gene DOID:630 genetic disease ISO RGD:1353336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152666 PINX1 PIN2 (TERF1) interacting telomerase inhibitor 1 gene DOID:630 genetic disease ISO RGD:1606271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152666 PINX1 PIN2 (TERF1) interacting telomerase inhibitor 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1606271 D RGD:9068941 20220602 RGD associated with Chronic Hepatitis B; DNA:SNP::rs1469557(human) PMID:27221889|REF_RGD_ID:152977752 12152666 PINX1 PIN2 (TERF1) interacting telomerase inhibitor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12152777 CEP120 centrosomal protein 120 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1601819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12152777 CEP120 centrosomal protein 120 gene DOID:0080277 Joubert syndrome 31 ISO RGD:1601819 D RGD:7240710 20190315 OMIM 12152777 CEP120 centrosomal protein 120 gene DOID:0080277 Joubert syndrome 31 ISO RGD:1601819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 31 PMID:17576681|PMID:25741868|PMID:27208211|PMID:28492532|PMID:9536098 12152777 CEP120 centrosomal protein 120 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601819 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12152777 CEP120 centrosomal protein 120 gene DOID:0110093 short-rib thoracic dysplasia 13 with or without polydactyly ISO RGD:1601819 D RGD:7240710 20180130 OMIM 12152777 CEP120 centrosomal protein 120 gene DOID:0110093 short-rib thoracic dysplasia 13 with or without polydactyly ISO RGD:1601819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 13 with or without polydactyly PMID:16199547|PMID:17576681|PMID:25251415|PMID:25361962|PMID:25741868|PMID:27208211|PMID:28492532|PMID:29847808|PMID:30866059|PMID:30988386|PMID:9536098 12152777 CEP120 centrosomal protein 120 gene DOID:630 genetic disease ISO RGD:1601819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12152777 CEP120 centrosomal protein 120 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12152777 CEP120 centrosomal protein 120 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601819 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12152812 MIPEP mitochondrial intermediate peptidase gene DOID:0050700 cardiomyopathy ISO RGD:1344343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:27799064|PMID:28492532 12152812 MIPEP mitochondrial intermediate peptidase gene DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C ISO RGD:1344343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C PMID:18285821|PMID:28492532 12152812 MIPEP mitochondrial intermediate peptidase gene DOID:0111488 combined oxidative phosphorylation deficiency 31 ISO RGD:1344343 D RGD:7240710 20190315 OMIM 12152812 MIPEP mitochondrial intermediate peptidase gene DOID:0111488 combined oxidative phosphorylation deficiency 31 ISO RGD:1344343 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome PMID:24033266|PMID:25741868|PMID:26762739|PMID:27799064|PMID:28492532|PMID:33587123 12152812 MIPEP mitochondrial intermediate peptidase gene DOID:10907 microcephaly ISO RGD:1344343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12152812 MIPEP mitochondrial intermediate peptidase gene DOID:1826 epilepsy ISO RGD:1344343 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12152812 MIPEP mitochondrial intermediate peptidase gene DOID:5419 schizophrenia ISO RGD:1344343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12152812 MIPEP mitochondrial intermediate peptidase gene DOID:607 paraplegia ISO RGD:1344343 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12152812 MIPEP mitochondrial intermediate peptidase gene DOID:630 genetic disease ISO RGD:1344343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26762739|PMID:28492532|PMID:33587123 12152843 EVI5 ecotropic viral integration site 5 gene DOID:0112131 severe congenital neutropenia 2 ISO RGD:1350871 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant PMID:28492532 12152843 EVI5 ecotropic viral integration site 5 gene DOID:630 genetic disease ISO RGD:1350871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152893 DYRK2 dual specificity tyrosine phosphorylation regulated kinase 2 gene DOID:630 genetic disease ISO RGD:1323814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152893 DYRK2 dual specificity tyrosine phosphorylation regulated kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323814 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12152913 DLA-DRA MHC class II DR alpha chain gene DOID:0050553 JMP syndrome ISO RGD:1344093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12152913 DLA-DRA MHC class II DR alpha chain gene DOID:0060892 late onset Parkinson's disease ISO RGD:1344093 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs3129882) (human) PMID:21791235|REF_RGD_ID:5490156 12152913 DLA-DRA MHC class II DR alpha chain gene DOID:11716 prediabetes syndrome ISO RGD:1593283 D RGD:9068941 20200609 RGD mRNA:increased expression:spleen, lymphocyte PMID:3142800|REF_RGD_ID:5147592 12152913 DLA-DRA MHC class II DR alpha chain gene DOID:1205 allergic disease ISO RGD:1344093 D RGD:9068941 20200609 RGD PMID:9104792|REF_RGD_ID:5490205 12152913 DLA-DRA MHC class II DR alpha chain gene DOID:14115 toxic shock syndrome ISO RGD:1344093 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28771573 12152913 DLA-DRA MHC class II DR alpha chain gene DOID:14115 toxic shock syndrome ISO RGD:1344093 D RGD:9068941 20200609 RGD associated with Burns PMID:17568330|REF_RGD_ID:5490160 12152913 DLA-DRA MHC class II DR alpha chain gene DOID:14115 toxic shock syndrome disease_progression ISO RGD:1344093 D RGD:9068941 20200609 RGD PMID:15644645|REF_RGD_ID:5490203 12152913 DLA-DRA MHC class II DR alpha chain gene DOID:14330 Parkinson's disease ISO RGD:1344093 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20711177 12152913 DLA-DRA MHC class II DR alpha chain gene DOID:14330 Parkinson's disease onset ISO RGD:1344093 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs3129882) (human) PMID:20711177|REF_RGD_ID:5490158 12152913 DLA-DRA MHC class II DR alpha chain gene DOID:2377 multiple sclerosis ISO RGD:1344093 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17660530 12152913 DLA-DRA MHC class II DR alpha chain gene DOID:2377 multiple sclerosis ISO RGD:1344093 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:c.*406+228A>G (rs3135388) (human) PMID:19834503|REF_RGD_ID:5490202 12152913 DLA-DRA MHC class II DR alpha chain gene DOID:2377 multiple sclerosis ISO RGD:1344093 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:17660530|REF_RGD_ID:5490159 12152913 DLA-DRA MHC class II DR alpha chain gene DOID:2377 multiple sclerosis ISO RGD:1344093 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter (human) PMID:10527398|REF_RGD_ID:5490204 12152913 DLA-DRA MHC class II DR alpha chain gene DOID:2841 asthma susceptibility ISO RGD:1344093 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:20159242|REF_RGD_ID:13506913 12152913 DLA-DRA MHC class II DR alpha chain gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1344093 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19635508|REF_RGD_ID:5490168 12152913 DLA-DRA MHC class II DR alpha chain gene DOID:3312 bipolar disorder ISO RGD:1344093 D RGD:9068941 20200609 RGD PMID:16687443|REF_RGD_ID:5490162 12152913 DLA-DRA MHC class II DR alpha chain gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1344093 D RGD:9068941 20200609 RGD PMID:21427211|REF_RGD_ID:5490157 12152913 DLA-DRA MHC class II DR alpha chain gene DOID:7188 autoimmune thyroiditis ISO RGD:1344093 D RGD:9068941 20200609 RGD PMID:12126634|REF_RGD_ID:5147805 12152913 DLA-DRA MHC class II DR alpha chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1593283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12152913 DLA-DRA MHC class II DR alpha chain gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1344093 D RGD:9068941 20200609 RGD PMID:8676084|REF_RGD_ID:5490166 12152913 DLA-DRA MHC class II DR alpha chain gene DOID:9006961 Asthma and Nasal Polyps susceptibility ISO RGD:1344093 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:introns: PMID:22391069|REF_RGD_ID:13506908 12152913 DLA-DRA MHC class II DR alpha chain gene DOID:9744 type 1 diabetes mellitus ISO RGD:1558302 D RGD:9068941 20200609 RGD PMID:11812739|REF_RGD_ID:5490164 12152927 ZNF777 zinc finger protein 777 gene DOID:630 genetic disease ISO RGD:1604021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152942 SPATA21 spermatogenesis associated 21 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602628 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12152942 SPATA21 spermatogenesis associated 21 gene DOID:11612 polycystic ovary syndrome ISO RGD:1602628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12152942 SPATA21 spermatogenesis associated 21 gene DOID:630 genetic disease ISO RGD:1602628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152942 SPATA21 spermatogenesis associated 21 gene DOID:9007188 Liver Neoplasms ISO RGD:1602628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12152975 BEX4 brain expressed X-linked 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12152975 BEX4 brain expressed X-linked 4 gene DOID:12849 autistic disorder ISO RGD:1352390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12152975 BEX4 brain expressed X-linked 4 gene DOID:13580 cholestasis ISO RGD:1352390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12152975 BEX4 brain expressed X-linked 4 gene DOID:630 genetic disease ISO RGD:1352390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152990 TMEM174 transmembrane protein 174 gene DOID:630 genetic disease ISO RGD:1606156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12152990 TMEM174 transmembrane protein 174 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12152996 TMT1A thiol methyltransferase 1A gene DOID:0080600 COVID-19 ISO RGD:1601879 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12152996 TMT1A thiol methyltransferase 1A gene DOID:289 endometriosis ISO RGD:1601879 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12153003 SLC48A1 solute carrier family 48 member 1 gene DOID:630 genetic disease ISO RGD:1604345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153010 MTERF4 mitochondrial transcription termination factor 4 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1602073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12153010 MTERF4 mitochondrial transcription termination factor 4 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1602073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12153010 MTERF4 mitochondrial transcription termination factor 4 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1602073 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12153010 MTERF4 mitochondrial transcription termination factor 4 gene DOID:1059 intellectual disability ISO RGD:1602073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12153010 MTERF4 mitochondrial transcription termination factor 4 gene DOID:630 genetic disease ISO RGD:1602073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153010 MTERF4 mitochondrial transcription termination factor 4 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1602073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12153018 ACOT9 acyl-CoA thioesterase 9 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12153018 ACOT9 acyl-CoA thioesterase 9 gene DOID:12849 autistic disorder ISO RGD:1606811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12153018 ACOT9 acyl-CoA thioesterase 9 gene DOID:630 genetic disease ISO RGD:1606811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153018 ACOT9 acyl-CoA thioesterase 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12153018 ACOT9 acyl-CoA thioesterase 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12153060 CHRM2 cholinergic receptor muscarinic 2 gene DOID:0050700 cardiomyopathy ISO RGD:733234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:18451336 12153060 CHRM2 cholinergic receptor muscarinic 2 gene DOID:12140 Chagas disease ISO RGD:733234 D RGD:9068941 20200609 RGD PMID:9148906|REF_RGD_ID:5509585 12153060 CHRM2 cholinergic receptor muscarinic 2 gene DOID:12143 neurogenic bladder ISO RGD:733234 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20624991 12153060 CHRM2 cholinergic receptor muscarinic 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:733234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23408450|PMID:24033266|PMID:28166811|PMID:28492532 12153060 CHRM2 cholinergic receptor muscarinic 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:733234 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:23408450|PMID:24033266|PMID:28492532 12153060 CHRM2 cholinergic receptor muscarinic 2 gene DOID:1470 major depressive disorder ISO RGD:733234 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:1890A>T (human) PMID:12116189|REF_RGD_ID:1358507 12153060 CHRM2 cholinergic receptor muscarinic 2 gene DOID:1470 major depressive disorder ISO RGD:733234 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex PMID:19103464|REF_RGD_ID:5509584 12153060 CHRM2 cholinergic receptor muscarinic 2 gene DOID:1508 candidiasis ISO RGD:1552578 D RGD:9068941 20200609 RGD PMID:19958780|REF_RGD_ID:5509581 12153060 CHRM2 cholinergic receptor muscarinic 2 gene DOID:1596 depressive disorder ISO RGD:620023 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:20830301|REF_RGD_ID:5509587 12153060 CHRM2 cholinergic receptor muscarinic 2 gene DOID:1826 epilepsy ISO RGD:733234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18333967 12153060 CHRM2 cholinergic receptor muscarinic 2 gene DOID:2841 asthma ISO RGD:733234 D RGD:9068941 20200609 RGD DNA:SNP: :rs6962027 (human) PMID:19308904|REF_RGD_ID:5509586 12153060 CHRM2 cholinergic receptor muscarinic 2 gene DOID:303 substance-related disorder ISO RGD:733234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20393457 12153060 CHRM2 cholinergic receptor muscarinic 2 gene DOID:3312 bipolar disorder ISO RGD:733234 D RGD:9068941 20200609 RGD DNA:SNP: :rs324650 (human) PMID:20351719|REF_RGD_ID:5509579 12153060 CHRM2 cholinergic receptor muscarinic 2 gene DOID:3312 bipolar disorder ISO RGD:733234 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex PMID:19103464|REF_RGD_ID:5509584 12153060 CHRM2 cholinergic receptor muscarinic 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12153060 CHRM2 cholinergic receptor muscarinic 2 gene DOID:5419 schizophrenia ISO RGD:733234 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs324651) (human) PMID:20691427|REF_RGD_ID:5509574 12153060 CHRM2 cholinergic receptor muscarinic 2 gene DOID:630 genetic disease ISO RGD:733234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12153060 CHRM2 cholinergic receptor muscarinic 2 gene DOID:9000998 Brain Injuries ISO RGD:733234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 12153060 CHRM2 cholinergic receptor muscarinic 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18603373 12153060 CHRM2 cholinergic receptor muscarinic 2 gene DOID:9007001 Bradycardia ISO RGD:733234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181912 12153060 CHRM2 cholinergic receptor muscarinic 2 gene DOID:9743 diabetic neuropathy ISO RGD:733234 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20624991 12153060 CHRM2 cholinergic receptor muscarinic 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18603373 12153060 CHRM2 cholinergic receptor muscarinic 2 gene DOID:9976 heroin dependence ISO RGD:733234 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs2350780 (human) PMID:19500151|REF_RGD_ID:5509583 12153069 ARFIP1 ADP ribosylation factor interacting protein 1 gene DOID:630 genetic disease ISO RGD:732747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153117 POLR1A RNA polymerase I subunit A gene DOID:0060353 acrofacial dysostosis Cincinnati type ISO RGD:1345694 D RGD:7240710 20180130 OMIM 12153117 POLR1A RNA polymerase I subunit A gene DOID:0060353 acrofacial dysostosis Cincinnati type ISO RGD:1345694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type PMID:25741868|PMID:25913037|PMID:28492532 12153117 POLR1A RNA polymerase I subunit A gene DOID:0060470 salt and pepper syndrome ISO RGD:1345694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GM3 synthase deficiency PMID:28492532 12153117 POLR1A RNA polymerase I subunit A gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1345694 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 12153117 POLR1A RNA polymerase I subunit A gene DOID:630 genetic disease ISO RGD:1345694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24153182|PMID:25741868|PMID:28492532|PMID:8910400 12153117 POLR1A RNA polymerase I subunit A gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1345694 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:25741868 12153117 POLR1A RNA polymerase I subunit A gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1345694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 12153158 CWF19L1 CWF19 like 1, cell cycle control gene DOID:0080064 autosomal recessive spinocerebellar ataxia 17 ISO RGD:1312323 D RGD:7240710 20180130 OMIM 12153158 CWF19L1 CWF19 like 1, cell cycle control gene DOID:0080064 autosomal recessive spinocerebellar ataxia 17 ISO RGD:1312323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 17 PMID:15981765|PMID:16199547|PMID:18414213|PMID:25361784|PMID:25741868|PMID:26197978|PMID:27016154|PMID:28492532 12153158 CWF19L1 CWF19 like 1, cell cycle control gene DOID:1059 intellectual disability ISO RGD:1312323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 12153158 CWF19L1 CWF19 like 1, cell cycle control gene DOID:630 genetic disease ISO RGD:1312323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153158 CWF19L1 CWF19 like 1, cell cycle control gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1312323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12153179 PELO pelota mRNA surveillance and ribosome rescue factor gene DOID:630 genetic disease ISO RGD:1343336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153179 PELO pelota mRNA surveillance and ribosome rescue factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12153185 BCAR1 BCAR1 scaffold protein, Cas family member gene DOID:1612 breast cancer severity ISO RGD:734116 D RGD:9068941 20200609 RGD protein:increased expression:breast, cytosol (human) PMID:15448007|REF_RGD_ID:8547748 12153185 BCAR1 BCAR1 scaffold protein, Cas family member gene DOID:1793 pancreatic cancer ISO RGD:734116 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098869 12153185 BCAR1 BCAR1 scaffold protein, Cas family member gene DOID:2565 macular corneal dystrophy ISO RGD:734116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 12153185 BCAR1 BCAR1 scaffold protein, Cas family member gene DOID:3007 breast ductal carcinoma ISO RGD:734116 D RGD:9068941 20200609 RGD PMID:11605729|REF_RGD_ID:1579979 12153185 BCAR1 BCAR1 scaffold protein, Cas family member gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:734116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12153185 BCAR1 BCAR1 scaffold protein, Cas family member gene DOID:607 paraplegia ISO RGD:734116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12153185 BCAR1 BCAR1 scaffold protein, Cas family member gene DOID:630 genetic disease ISO RGD:734116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153185 BCAR1 BCAR1 scaffold protein, Cas family member gene DOID:9002304 Prostatic Neoplasms ISO RGD:734116 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 12153185 BCAR1 BCAR1 scaffold protein, Cas family member gene DOID:9004575 Neoplasm Invasiveness ISO RGD:734116 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21291860 12153185 BCAR1 BCAR1 scaffold protein, Cas family member gene DOID:9008138 Ductal Carcinoma ISO RGD:734116 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 12153202 CIMIP2A ciliary microtubule inner protein 2A gene DOID:0050777 Joubert syndrome ISO RGD:1603805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12153202 CIMIP2A ciliary microtubule inner protein 2A gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1603805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12153202 CIMIP2A ciliary microtubule inner protein 2A gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1603805 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12153202 CIMIP2A ciliary microtubule inner protein 2A gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1603805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12153202 CIMIP2A ciliary microtubule inner protein 2A gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1603805 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12153202 CIMIP2A ciliary microtubule inner protein 2A gene DOID:0081097 Rafiq syndrome ISO RGD:1603805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12153202 CIMIP2A ciliary microtubule inner protein 2A gene DOID:1826 epilepsy ISO RGD:1603805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12153202 CIMIP2A ciliary microtubule inner protein 2A gene DOID:630 genetic disease ISO RGD:1603805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153202 CIMIP2A ciliary microtubule inner protein 2A gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1603805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12153232 IRF2BP1 interferon regulatory factor 2 binding protein 1 gene DOID:630 genetic disease ISO RGD:1318010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153237 SCAP SREBF chaperone gene DOID:630 genetic disease ISO RGD:1604827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153237 SCAP SREBF chaperone gene DOID:684 hepatocellular carcinoma ISO RGD:1604827 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563831 12153237 SCAP SREBF chaperone gene DOID:9000808 Hypercholesterolemia ISO RGD:1309378 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:16741953|REF_RGD_ID:1581819 12153237 SCAP SREBF chaperone gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1604827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12153237 SCAP SREBF chaperone gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309378 D RGD:9068941 20200609 RGD PMID:20973890|REF_RGD_ID:5490977 12153264 KRT71 keratin 71 gene DOID:0110710 hypotrichosis 13 ISO RGD:1604251 D RGD:7240710 20181226 OMIM 12153264 KRT71 keratin 71 gene DOID:0110710 hypotrichosis 13 ISO RGD:1604251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotrichosis 13 PMID:22592156|PMID:25741868 12153264 KRT71 keratin 71 gene DOID:305 carcinoma ISO RGD:1604251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12153264 KRT71 keratin 71 gene DOID:4535 hypotrichosis ISO RGD:1604251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12153264 KRT71 keratin 71 gene DOID:630 genetic disease ISO RGD:1604251 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12153264 KRT71 keratin 71 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1604251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12153264 KRT71 keratin 71 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1604251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12153264 KRT71 keratin 71 gene DOID:987 alopecia ISO RGD:1584538 D RGD:9068941 20211022 RGD DNA:deletion:cds:intron 1, p.Val149_Gln154 del PMID:20179389|REF_RGD_ID:11570415 12153275 UBXN10 UBX domain protein 10 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1318044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12153275 UBXN10 UBX domain protein 10 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1318044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12153275 UBXN10 UBX domain protein 10 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1318044 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12153275 UBXN10 UBX domain protein 10 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1318044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12153275 UBXN10 UBX domain protein 10 gene DOID:630 genetic disease ISO RGD:1318044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153275 UBXN10 UBX domain protein 10 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1318044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12153306 ISLR immunoglobulin superfamily containing leucine rich repeat gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602010 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12153306 ISLR immunoglobulin superfamily containing leucine rich repeat gene DOID:2717 Bloom syndrome ISO RGD:1602010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12153306 ISLR immunoglobulin superfamily containing leucine rich repeat gene DOID:5419 schizophrenia ISO RGD:1602010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12153306 ISLR immunoglobulin superfamily containing leucine rich repeat gene DOID:630 genetic disease ISO RGD:1602010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153306 ISLR immunoglobulin superfamily containing leucine rich repeat gene DOID:9256 colorectal cancer ISO RGD:1602010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12153315 OR1F15 olfactory receptor family 1 subfamily F member 15 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1350511 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12153315 OR1F15 olfactory receptor family 1 subfamily F member 15 gene DOID:1540 parathyroid carcinoma ISO RGD:1350511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12153315 OR1F15 olfactory receptor family 1 subfamily F member 15 gene DOID:630 genetic disease ISO RGD:1350511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153315 OR1F15 olfactory receptor family 1 subfamily F member 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12153315 OR1F15 olfactory receptor family 1 subfamily F member 15 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1350511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 12153315 OR1F15 olfactory receptor family 1 subfamily F member 15 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12153322 DHRS2 dehydrogenase/reductase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1321774 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12153322 DHRS2 dehydrogenase/reductase 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1321774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12153322 DHRS2 dehydrogenase/reductase 2 gene DOID:630 genetic disease ISO RGD:1321774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153322 DHRS2 dehydrogenase/reductase 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1321774 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12153322 DHRS2 dehydrogenase/reductase 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321774 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12153341 SPNS2 SPNS lysolipid transporter 2, sphingosine-1-phosphate gene DOID:0111643 autosomal recessive nonsyndromic deafness 115 ISO RGD:1625643 D RGD:7240710 20211222 OMIM 12153341 SPNS2 SPNS lysolipid transporter 2, sphingosine-1-phosphate gene DOID:0111643 autosomal recessive nonsyndromic deafness 115 ISO RGD:1625643 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 115 PMID:25741868|PMID:28492532 12153341 SPNS2 SPNS lysolipid transporter 2, sphingosine-1-phosphate gene DOID:10003 sensorineural hearing loss ISO RGD:1625643 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 12153341 SPNS2 SPNS lysolipid transporter 2, sphingosine-1-phosphate gene DOID:630 genetic disease ISO RGD:1625643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153341 SPNS2 SPNS lysolipid transporter 2, sphingosine-1-phosphate gene DOID:9004538 Hearing Loss ISO RGD:1625643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 12153375 PUM2 pumilio RNA binding family member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1322257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12153375 PUM2 pumilio RNA binding family member 2 gene DOID:630 genetic disease ISO RGD:1322257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153418 DUSP26 dual specificity phosphatase 26 gene DOID:630 genetic disease ISO RGD:1604602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153425 MRPL17 mitochondrial ribosomal protein L17 gene DOID:630 genetic disease ISO RGD:1351017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153432 CENATAC centrosomal AT-AC splicing factor gene DOID:0060017 CD3epsilon deficiency ISO RGD:1602413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12153432 CENATAC centrosomal AT-AC splicing factor gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1602413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12153432 CENATAC centrosomal AT-AC splicing factor gene DOID:0080690 RASopathy ISO RGD:1602413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12153432 CENATAC centrosomal AT-AC splicing factor gene DOID:0081330 glycogen storage disease Ib ISO RGD:1602413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12153432 CENATAC centrosomal AT-AC splicing factor gene DOID:0110651 long QT syndrome 10 ISO RGD:1602413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12153432 CENATAC centrosomal AT-AC splicing factor gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1602413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12153432 CENATAC centrosomal AT-AC splicing factor gene DOID:0111971 immunodeficiency 18 ISO RGD:1602413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12153432 CENATAC centrosomal AT-AC splicing factor gene DOID:0111972 immunodeficiency 19 ISO RGD:1602413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12153432 CENATAC centrosomal AT-AC splicing factor gene DOID:0111973 immunodeficiency 17 ISO RGD:1602413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12153432 CENATAC centrosomal AT-AC splicing factor gene DOID:5419 schizophrenia ISO RGD:1602413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12153432 CENATAC centrosomal AT-AC splicing factor gene DOID:630 genetic disease ISO RGD:1602413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153432 CENATAC centrosomal AT-AC splicing factor gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1602413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12153432 CENATAC centrosomal AT-AC splicing factor gene DOID:9007661 Dwarfism ISO RGD:1602413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12153432 CENATAC centrosomal AT-AC splicing factor gene DOID:9007689 Mosaic Variegated Aneuploidy Syndrome 4 ISO RGD:1602413 D RGD:7240710 20221228 OMIM 12153450 USH1C USH1 protein network component harmonin gene DOID:0050439 Usher syndrome ISO RGD:1604645 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:23380860|PMID:24033266|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27957503|PMID:28041643|PMID:28492532|PMID:30096381|PMID:30303587|PMID:30718709 12153450 USH1C USH1 protein network component harmonin gene DOID:0050439 Usher syndrome ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25468891|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709 12153450 USH1C USH1 protein network component harmonin gene DOID:0050439 Usher syndrome treatment ISO RGD:1604645 D RGD:9068941 20200609 RGD PMID:23380860|REF_RGD_ID:8695937 12153450 USH1C USH1 protein network component harmonin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1604645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12630964|PMID:12702164|PMID:17407589|PMID:20301442|PMID:21203349|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26969326|PMID:27460420|PMID:28041643|PMID:28492532|PMID:30303587|PMID:30718709 12153450 USH1C USH1 protein network component harmonin gene DOID:0110473 autosomal recessive nonsyndromic deafness 18A ISO RGD:1604645 D RGD:7240710 20180130 OMIM 12153450 USH1C USH1 protein network component harmonin gene DOID:0110473 autosomal recessive nonsyndromic deafness 18A ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18A | ClinVar Annotator: match by term: Deafness, autosomal recessive 18A PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16679490|PMID:16963483|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24416283|PMID:24875298|PMID:25333064|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29625443|PMID:29739340|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709|PMID:31858762|PMID:32747562|PMID:33724713 12153450 USH1C USH1 protein network component harmonin gene DOID:0110826 Usher syndrome type 1 ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24498627|PMID:25356976|PMID:25468891|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709|PMID:33095980|PMID:9760205 12153450 USH1C USH1 protein network component harmonin gene DOID:0110826 Usher syndrome type 1 onset ISO RGD:1604645 D RGD:9068941 20200609 RGD DNA:deletion:exon:c.1220delG(human) PMID:23251578|REF_RGD_ID:8695919 12153450 USH1C USH1 protein network component harmonin gene DOID:0110827 Usher syndrome type 2 ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2 PMID:10973247|PMID:16199547|PMID:17407589|PMID:20301442|PMID:21203349|PMID:25741868|PMID:27460420|PMID:28492532|PMID:30311386 12153450 USH1C USH1 protein network component harmonin gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1604645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome 12153450 USH1C USH1 protein network component harmonin gene DOID:0110830 Usher syndrome type 1C ISO RGD:1604645 D RGD:7240710 20180130 OMIM 12153450 USH1C USH1 protein network component harmonin gene DOID:0110830 Usher syndrome type 1C ISO RGD:1604645 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1C PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:16963483|PMID:17174357|PMID:17407589|PMID:17576681|PMID:18665195|PMID:19297620|PMID:20095043|PMID:20142502|PMID:20146813|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:22581970|PMID:23251578|PMID:23967202|PMID:24033266|PMID:24154662|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24875298|PMID:25262649|PMID:25333064|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:25788563|PMID:26445815|PMID:26467025|PMID:26969326|PMID:27208204|PMID:27440999|PMID:27460420|PMID:27743452|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29625443|PMID:29739340|PMID:29907799|PMID:30096381|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30718709|PMID:31858762|PMID:32467589|PMID:9536098|PMID:9760205 12153450 USH1C USH1 protein network component harmonin gene DOID:0110830 Usher syndrome type 1C ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1C PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:16963483|PMID:17174357|PMID:17407589|PMID:17576681|PMID:18665195|PMID:19297620|PMID:20095043|PMID:20142502|PMID:20146813|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:22581970|PMID:23251578|PMID:23967202|PMID:24033266|PMID:24154662|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24875298|PMID:25262649|PMID:25333064|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:25788563|PMID:26445815|PMID:26467025|PMID:26969326|PMID:27208204|PMID:27440999|PMID:27460420|PMID:27743452|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29490346|PMID:29625443|PMID:29739340|PMID:29907799|PMID:30096381|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30718709|PMID:31858762|PMID:32467589|PMID:33095980|PMID:33781268|PMID:9536098|PMID:9760205 12153450 USH1C USH1 protein network component harmonin gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1604645 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 12153450 USH1C USH1 protein network component harmonin gene DOID:10003 sensorineural hearing loss ISO RGD:1553848 D RGD:9068941 20200609 RGD PMID:20211154|REF_RGD_ID:8695932 12153450 USH1C USH1 protein network component harmonin gene DOID:10584 retinitis pigmentosa ISO RGD:1604645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12630964|PMID:12702164|PMID:17407589|PMID:20301442|PMID:21203349|PMID:21569298|PMID:22135276|PMID:23251578|PMID:24033266|PMID:25741868|PMID:26969326|PMID:28041643|PMID:28492532|PMID:29490346|PMID:30303587|PMID:30718709 12153450 USH1C USH1 protein network component harmonin gene DOID:1059 intellectual disability ISO RGD:1604645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12153450 USH1C USH1 protein network component harmonin gene DOID:630 genetic disease ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10973247|PMID:11139240|PMID:16199547|PMID:17407589|PMID:20301442|PMID:21203349|PMID:22135276|PMID:24033266|PMID:24416283|PMID:24498627|PMID:25525159|PMID:25741868|PMID:27743452|PMID:28492532 12153450 USH1C USH1 protein network component harmonin gene DOID:8501 fundus dystrophy ISO RGD:1604645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12630964|PMID:12702164|PMID:17407589|PMID:20301442|PMID:21203349|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25741868|PMID:26969326|PMID:27208204|PMID:28041643|PMID:28492532|PMID:30303587|PMID:30718709 12153450 USH1C USH1 protein network component harmonin gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1604645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25560255|PMID:25741868|PMID:26969326|PMID:28041643|PMID:28492532|PMID:30096381|PMID:30303587|PMID:30718709 12153450 USH1C USH1 protein network component harmonin gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1604645 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25468891|PMID:25560255|PMID:25741868|PMID:26969326|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709 12153450 USH1C USH1 protein network component harmonin gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25468891|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709 12153450 USH1C USH1 protein network component harmonin gene DOID:9004538 Hearing Loss ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:10973247|PMID:16199547|PMID:17407589|PMID:20301442|PMID:21203349|PMID:22135276|PMID:23967202|PMID:24033266|PMID:25741868|PMID:27460420|PMID:28492532|PMID:30311386 12153450 USH1C USH1 protein network component harmonin gene DOID:9005581 Autosomal Recessive Nonsyndromic Deafness 18 ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 18 PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16679490|PMID:16963483|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24416283|PMID:24875298|PMID:25333064|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29625443|PMID:29739340|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709|PMID:31858762|PMID:32747562|PMID:33724713 12153450 USH1C USH1 protein network component harmonin gene DOID:9849 Meniere's disease ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:12136232|PMID:16963483|PMID:24033266|PMID:24875298|PMID:25741868|PMID:28492532|PMID:29739340 12153481 UNC119B unc-119 lipid binding chaperone B gene DOID:630 genetic disease ISO RGD:1345863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153490 TMPRSS9 transmembrane serine protease 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1617167 D RGD:9068941 20220825 MouseDO 12153490 TMPRSS9 transmembrane serine protease 9 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1319995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12153490 TMPRSS9 transmembrane serine protease 9 gene DOID:630 genetic disease ISO RGD:1319995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12153490 TMPRSS9 transmembrane serine protease 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12153490 TMPRSS9 transmembrane serine protease 9 gene DOID:9008086 Developmental Disabilities ISO RGD:1319995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12153513 VPS25 vacuolar protein sorting 25 homolog gene DOID:0050450 Gitelman syndrome ISO RGD:1557765 D RGD:9068941 20220825 MouseDO OMIM:263800 12153513 VPS25 vacuolar protein sorting 25 homolog gene DOID:10763 hypertension ISO RGD:1353270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22949526 12153513 VPS25 vacuolar protein sorting 25 homolog gene DOID:10763 hypertension ISO RGD:1353270 D RGD:9068941 20200609 RGD PMID:15110905|REF_RGD_ID:1580830 12153513 VPS25 vacuolar protein sorting 25 homolog gene DOID:10763 hypertension no_association ISO RGD:631401 D RGD:9068941 20200609 RGD PMID:12642508|REF_RGD_ID:629611 12153513 VPS25 vacuolar protein sorting 25 homolog gene DOID:224 transient cerebral ischemia ISO RGD:631401 D RGD:9068941 20200609 RGD PMID:27798271|REF_RGD_ID:14398833 12153513 VPS25 vacuolar protein sorting 25 homolog gene DOID:4479 pseudohypoaldosteronism ISO RGD:1353270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperpotassemia and hypertension familial 12153513 VPS25 vacuolar protein sorting 25 homolog gene DOID:630 genetic disease ISO RGD:1353270 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28915228 12153513 VPS25 vacuolar protein sorting 25 homolog gene DOID:9002890 Pseudohypoaldosteronism, Type IIA ISO RGD:1353270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome 12153513 VPS25 vacuolar protein sorting 25 homolog gene DOID:9006551 Pseudohypoaldosteronism, Type IIB ISO RGD:1353270 D RGD:7240710 20180130 OMIM 12153513 VPS25 vacuolar protein sorting 25 homolog gene DOID:9006551 Pseudohypoaldosteronism, Type IIB ISO RGD:1353270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2B PMID:11498583|PMID:12107233|PMID:15110905|PMID:15292344|PMID:18547946|PMID:21236712|PMID:25741868|PMID:25741916|PMID:28492532|PMID:30773290|PMID:718348|PMID:9171836 12153526 OR4C5 olfactory receptor family 4 subfamily C member 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1353934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25255310 12153530 OR5H13 olfactory receptor family 5 subfamily H member 13 gene DOID:630 genetic disease ISO RGD:1349856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153535 TMEM239 transmembrane protein 239 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:5488169 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12153535 TMEM239 transmembrane protein 239 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:5488169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12153535 TMEM239 transmembrane protein 239 gene DOID:630 genetic disease ISO RGD:5488169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153549 ZNF398 zinc finger protein 398 gene DOID:630 genetic disease ISO RGD:1345407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153564 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:735494 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12153564 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:735494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12153564 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:0080690 RASopathy ISO RGD:735494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12153564 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:0081330 glycogen storage disease Ib ISO RGD:735494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12153564 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:0110644 long QT syndrome 1 ISO RGD:735494 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:25741868|PMID:28492532 12153564 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:0110651 long QT syndrome 10 ISO RGD:735494 D RGD:7240710 20180130 OMIM 12153564 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:0110651 long QT syndrome 10 ISO RGD:735494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:16199547|PMID:17576681|PMID:17592081|PMID:20226894|PMID:23174487|PMID:23465283|PMID:23631430|PMID:23861362|PMID:25741868|PMID:28492532|PMID:28837624|PMID:30821358|PMID:30847666|PMID:31043699|PMID:31737537|PMID:9536098 12153564 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:735494 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12153564 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:735494 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12153564 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:735494 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12153564 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:735494 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12153564 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:1059 intellectual disability ISO RGD:735494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12153564 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:735494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 12153564 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:2843 long QT syndrome ISO RGD:735494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 12153564 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:9002990 Familial Atrial Fibrillation 17 ISO RGD:735494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 17 PMID:23604097 12153564 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:735494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12153564 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:735494 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:23861362|PMID:25741868|PMID:28492532 12153564 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:9007 sudden infant death syndrome ISO RGD:735494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:20226894|PMID:23465283|PMID:23861362|PMID:25741868|PMID:28492532|PMID:30821358|PMID:31043699 12153564 SCN4B sodium voltage-gated channel beta subunit 4 gene DOID:9007661 Dwarfism ISO RGD:735494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12153573 B2M beta-2-microglobulin gene DOID:0050589 inflammatory bowel disease ISO RGD:735892 D RGD:9068941 20200609 RGD PMID:20015205|REF_RGD_ID:6482693 12153573 B2M beta-2-microglobulin gene DOID:0050636 familial visceral amyloidosis ISO RGD:735892 D RGD:7240710 20180130 OMIM 12153573 B2M beta-2-microglobulin gene DOID:0050636 familial visceral amyloidosis ISO RGD:735892 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial visceral amyloidosis PMID:22693999|PMID:25702838|PMID:25741868|PMID:28492532 12153573 B2M beta-2-microglobulin gene DOID:0050712 AGAT deficiency ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 12153573 B2M beta-2-microglobulin gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7688627 12153573 B2M beta-2-microglobulin gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413734 12153573 B2M beta-2-microglobulin gene DOID:0050830 peripheral artery disease severity ISO RGD:735892 D RGD:9068941 20200609 RGD PMID:21314441|REF_RGD_ID:6482704 12153573 B2M beta-2-microglobulin gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:22693999|PMID:26619011 12153573 B2M beta-2-microglobulin gene DOID:0060704 lymphoproliferative syndrome ISO RGD:10224 D RGD:9068941 20200609 RGD associated with Herpesviridae Infections PMID:16282467|REF_RGD_ID:6483039 12153573 B2M beta-2-microglobulin gene DOID:0060704 lymphoproliferative syndrome ISO RGD:735892 D RGD:9068941 20200609 RGD associated with kidney transplantation PMID:9067691|REF_RGD_ID:6482705 12153573 B2M beta-2-microglobulin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 PMID:28492532 12153573 B2M beta-2-microglobulin gene DOID:0111981 immunodeficiency 43 ISO RGD:735892 D RGD:7240710 20180130 OMIM 12153573 B2M beta-2-microglobulin gene DOID:0111981 immunodeficiency 43 ISO RGD:735892 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypoproteinemia, hypercatabolic PMID:16549777|PMID:25702838|PMID:25741868|PMID:28492532|PMID:4186801 12153573 B2M beta-2-microglobulin gene DOID:10763 hypertension ISO RGD:735892 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15957539|REF_RGD_ID:1601306 12153573 B2M beta-2-microglobulin gene DOID:114 heart disease ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 12153573 B2M beta-2-microglobulin gene DOID:11400 pyelonephritis ISO RGD:2189 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:21797109|REF_RGD_ID:6482315 12153573 B2M beta-2-microglobulin gene DOID:14330 Parkinson's disease ISO RGD:735892 D RGD:9068941 20200609 RGD protein:increased expression:corpus striatum PMID:7605592|REF_RGD_ID:6482706 12153573 B2M beta-2-microglobulin gene DOID:1909 melanoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:26619011 12153573 B2M beta-2-microglobulin gene DOID:2349 arteriosclerosis ISO RGD:735892 D RGD:9068941 20200609 RGD associated with Kidney Diseases PMID:16221094|REF_RGD_ID:2311212 12153573 B2M beta-2-microglobulin gene DOID:2352 hemochromatosis ISO RGD:10224 D RGD:9068941 20220825 MouseDO OMIM:231100 12153573 B2M beta-2-microglobulin gene DOID:2717 Bloom syndrome ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12153573 B2M beta-2-microglobulin gene DOID:3021 acute kidney failure ISO RGD:2189 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19536607|REF_RGD_ID:6482685 12153573 B2M beta-2-microglobulin gene DOID:3021 acute kidney failure ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22005293|PMID:2689182|PMID:28885000 12153573 B2M beta-2-microglobulin gene DOID:3407 carotid artery disease disease_progression ISO RGD:735892 D RGD:9068941 20200609 RGD PMID:21546482|REF_RGD_ID:6482703 12153573 B2M beta-2-microglobulin gene DOID:3717 gastric adenocarcinoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:26619011 12153573 B2M beta-2-microglobulin gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12153573 B2M beta-2-microglobulin gene DOID:3907 lung squamous cell carcinoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26619011 12153573 B2M beta-2-microglobulin gene DOID:3910 lung adenocarcinoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:26619011 12153573 B2M beta-2-microglobulin gene DOID:417 autoimmune disease ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21793797 12153573 B2M beta-2-microglobulin gene DOID:417 autoimmune disease ISO RGD:735892 D RGD:9068941 20200609 RGD associated with Leukemia, lymphocyte, chronic-B-cell; protein:increased expression:urine PMID:17214095|REF_RGD_ID:6482731 12153573 B2M beta-2-microglobulin gene DOID:5199 ureteral obstruction ISO RGD:2189 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19536607|REF_RGD_ID:6482685 12153573 B2M beta-2-microglobulin gene DOID:5409 lung small cell carcinoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma PMID:26619011 12153573 B2M beta-2-microglobulin gene DOID:5411 lung oat cell carcinoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung oat cell carcinoma PMID:26619011 12153573 B2M beta-2-microglobulin gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:26619011 12153573 B2M beta-2-microglobulin gene DOID:557 kidney disease ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303580|PMID:2202081|PMID:24863737 12153573 B2M beta-2-microglobulin gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:26619011 12153573 B2M beta-2-microglobulin gene DOID:576 proteinuria ISO RGD:735892 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:17634209|REF_RGD_ID:2311211 12153573 B2M beta-2-microglobulin gene DOID:576 proteinuria ISO RGD:735892 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:33857584 12153573 B2M beta-2-microglobulin gene DOID:640 encephalomyelitis ISO RGD:10224 D RGD:9068941 20200609 RGD associated with Theilovirus infection PMID:22335434|REF_RGD_ID:6482701 12153573 B2M beta-2-microglobulin gene DOID:640 encephalomyelitis ISO RGD:735892 D RGD:9068941 20200609 RGD associated with Measles; protein:increased expression:cerebrospinal fluid PMID:1402029|REF_RGD_ID:6482707 12153573 B2M beta-2-microglobulin gene DOID:6536 plasma cell neoplasm ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:26619011 12153573 B2M beta-2-microglobulin gene DOID:83 cataract ISO RGD:735892 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies PMID:12567748|REF_RGD_ID:2311237 12153573 B2M beta-2-microglobulin gene DOID:848 arthritis ISO RGD:735892 D RGD:9068941 20200609 RGD PMID:16575857|REF_RGD_ID:6482692 12153573 B2M beta-2-microglobulin gene DOID:8622 measles ISO RGD:735892 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:1402029|REF_RGD_ID:6482707 12153573 B2M beta-2-microglobulin gene DOID:8923 skin melanoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:26619011 12153573 B2M beta-2-microglobulin gene DOID:9000169 Systemic Inflammatory Response Syndrome ISO RGD:735892 D RGD:9068941 20200609 RGD associated with infant, premature;protein:increased expression:urine PMID:19527385|REF_RGD_ID:6482709 12153573 B2M beta-2-microglobulin gene DOID:9000380 Spondylarthritis ISO RGD:735892 D RGD:9068941 20200609 RGD PMID:16575857|REF_RGD_ID:6482692 12153573 B2M beta-2-microglobulin gene DOID:9001542 Albuminuria ISO RGD:735892 D RGD:9068941 20200609 RGD associated with HIV infections;protein:increased expression:urine PMID:18469311|REF_RGD_ID:6482713 12153573 B2M beta-2-microglobulin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2189 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:18777138|REF_RGD_ID:6482712 12153573 B2M beta-2-microglobulin gene DOID:9002304 Prostatic Neoplasms ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17404077 12153573 B2M beta-2-microglobulin gene DOID:9002331 Knee Osteoarthritis ISO RGD:735892 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18795399|REF_RGD_ID:6482710 12153573 B2M beta-2-microglobulin gene DOID:9002513 Hypoproteinemia susceptibility ISO RGD:735892 D RGD:9068941 20200609 RGD DNA:transversion:exon;913G>C PMID:16549777|REF_RGD_ID:1599429 12153573 B2M beta-2-microglobulin gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10224 D RGD:9068941 20200609 RGD PMID:15837577|REF_RGD_ID:6482690 12153573 B2M beta-2-microglobulin gene DOID:9003571 Paraproteinemias ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:26619011 12153573 B2M beta-2-microglobulin gene DOID:9005358 Hypergammaglobulinemia ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21793797 12153573 B2M beta-2-microglobulin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12153573 B2M beta-2-microglobulin gene DOID:9008443 Colorectal Neoplasms ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:26619011 12153573 B2M beta-2-microglobulin gene DOID:9256 colorectal cancer ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12153573 B2M beta-2-microglobulin gene DOID:9352 type 2 diabetes mellitus ISO RGD:735892 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15127324|REF_RGD_ID:2311236 12153573 B2M beta-2-microglobulin gene DOID:9538 multiple myeloma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:26619011 12153573 B2M beta-2-microglobulin gene DOID:9744 type 1 diabetes mellitus ISO RGD:10224 D RGD:9068941 20200609 RGD PMID:11572996|PMID:15446308|REF_RGD_ID:2311235|REF_RGD_ID:2311238 12153573 B2M beta-2-microglobulin gene DOID:9970 obesity ISO RGD:735892 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:15517379|REF_RGD_ID:1601309 12153584 UQCC5 ubiquinol-cytochrome c reductase complex assembly factor 5 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1603140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12153642 HYCC1 hyccin PI4KA lipid kinase complex subunit 1 gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1606763 D RGD:7240710 20180130 OMIM 12153642 HYCC1 hyccin PI4KA lipid kinase complex subunit 1 gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1606763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:16199547|PMID:16951682|PMID:17576681|PMID:17928815|PMID:18022865|PMID:20301737|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:25741868|PMID:28492532|PMID:9536098 12153642 HYCC1 hyccin PI4KA lipid kinase complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:1606763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12153642 HYCC1 hyccin PI4KA lipid kinase complex subunit 1 gene DOID:303 substance-related disorder ISO RGD:1606763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12153642 HYCC1 hyccin PI4KA lipid kinase complex subunit 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12153642 HYCC1 hyccin PI4KA lipid kinase complex subunit 1 gene DOID:630 genetic disease ISO RGD:1606763 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12153642 HYCC1 hyccin PI4KA lipid kinase complex subunit 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1606763 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 12153674 CTSF cathepsin F gene DOID:0110727 neuronal ceroid lipofuscinosis 13 ISO RGD:1317809 D RGD:7240710 20180130 OMIM 12153674 CTSF cathepsin F gene DOID:0110727 neuronal ceroid lipofuscinosis 13 ISO RGD:1317809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 13 PMID:16199547|PMID:17576681|PMID:17828264|PMID:23297359|PMID:25274848|PMID:25741868|PMID:26467025|PMID:27120077|PMID:27524508|PMID:28492532|PMID:9536098 12153674 CTSF cathepsin F gene DOID:1059 intellectual disability ISO RGD:1317809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12153674 CTSF cathepsin F gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1317809 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 12153674 CTSF cathepsin F gene DOID:630 genetic disease ISO RGD:1317809 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17828264|PMID:23297359|PMID:25274848|PMID:25741868|PMID:26467025|PMID:27120077|PMID:27524508|PMID:28492532 12153674 CTSF cathepsin F gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1317809 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12153674 CTSF cathepsin F gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12153674 CTSF cathepsin F gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1317809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12153674 CTSF cathepsin F gene DOID:9008582 Developmental Disease ISO RGD:1317809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12153692 OR10A4 olfactory receptor family 10 subfamily A member 4 gene DOID:630 genetic disease ISO RGD:1350333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153695 BNC1 basonuclin 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1319162 D RGD:7240710 20200101 OMIM 12153695 BNC1 basonuclin 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1319162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 16 PMID:10909|PMID:25741868 12153695 BNC1 basonuclin 1 gene DOID:13938 amenorrhea ISO RGD:1319162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12153695 BNC1 basonuclin 1 gene DOID:2717 Bloom syndrome ISO RGD:1319162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12153695 BNC1 basonuclin 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1319162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12153695 BNC1 basonuclin 1 gene DOID:630 genetic disease ISO RGD:1319162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153695 BNC1 basonuclin 1 gene DOID:9256 colorectal cancer ISO RGD:1319162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12153704 PDAP1 PDGFA associated protein 1 gene DOID:3070 high grade glioma severity ISO RGD:733658 D RGD:9068941 20200609 RGD PMID:27448842|REF_RGD_ID:13702895 12153704 PDAP1 PDGFA associated protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12153704 PDAP1 PDGFA associated protein 1 gene DOID:630 genetic disease ISO RGD:733658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153715 LOC608110 store-operated calcium entry regulator STIMATE gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:5013865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12153728 HSF5 heat shock transcription factor 5 gene DOID:0050777 Joubert syndrome ISO RGD:1604244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12153728 HSF5 heat shock transcription factor 5 gene DOID:0111096 Fanconi anemia complementation group O ISO RGD:1604244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group O PMID:28492532 12153728 HSF5 heat shock transcription factor 5 gene DOID:1059 intellectual disability ISO RGD:1604244 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12153728 HSF5 heat shock transcription factor 5 gene DOID:630 genetic disease ISO RGD:1604244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153738 LUZP2 leucine zipper protein 2 gene DOID:1059 intellectual disability ISO RGD:1347178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12153738 LUZP2 leucine zipper protein 2 gene DOID:630 genetic disease ISO RGD:1347178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153754 NCAPD3 non-SMC condensin II complex subunit D3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1603696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12153754 NCAPD3 non-SMC condensin II complex subunit D3 gene DOID:1059 intellectual disability ISO RGD:1603696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12153754 NCAPD3 non-SMC condensin II complex subunit D3 gene DOID:5419 schizophrenia ISO RGD:1603696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12153754 NCAPD3 non-SMC condensin II complex subunit D3 gene DOID:630 genetic disease ISO RGD:1603696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12153754 NCAPD3 non-SMC condensin II complex subunit D3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12153754 NCAPD3 non-SMC condensin II complex subunit D3 gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1603696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:16857760|PMID:21109224|PMID:23255084|PMID:28492532 12153754 NCAPD3 non-SMC condensin II complex subunit D3 gene DOID:9009172 Primary Autosomal Recessive Microcephaly 22 ISO RGD:1603696 D RGD:7240710 20190315 OMIM 12153754 NCAPD3 non-SMC condensin II complex subunit D3 gene DOID:9009172 Primary Autosomal Recessive Microcephaly 22 ISO RGD:1603696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 22, primary, autosomal recessive PMID:25741868|PMID:27737959 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:10283 prostate cancer ameliorates ISO RGD:737223 D RGD:9068941 20220429 RGD human cells in mouse model PMID:30537000|REF_RGD_ID:152025215 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:11664 nephrosclerosis ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:11713 diabetic angiopathy susceptibility ISO RGD:737223 D RGD:9068941 20200609 RGD associated with Diabetic Foot;DNA:polymorphism:3' utr (human) PMID:16723689|REF_RGD_ID:2306558 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:12932 endomyocardial fibrosis ISO RGD:737223 D RGD:9068941 20220310 CTD CTD Direct Evidence: therapeutic PMID:34310909 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:1790 malignant mesothelioma ISO RGD:737223 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:1824 status epilepticus ISO RGD:3651 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19054393|REF_RGD_ID:2306568 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:224 transient cerebral ischemia ISO RGD:3651 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:24924806|REF_RGD_ID:11352662 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:2316 brain ischemia ISO RGD:3651 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:18206136|REF_RGD_ID:2306577 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:2596 larynx cancer exacerbates ISO RGD:737223 D RGD:9068941 20220512 RGD protein:increased expression: mucosa of larynx (human) PMID:23259294|REF_RGD_ID:152177474 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:2723 dermatitis ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27206134 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:326 ischemia ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18227068 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:3393 coronary artery disease ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:3459 breast carcinoma susceptibility ISO RGD:737223 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:15978329|REF_RGD_ID:2317609 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:3892 insulinoma ISO RGD:737223 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19013212|REF_RGD_ID:2317608 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:737223 D RGD:9068941 20230128 RGD mRNA:decreased expression:kidney: PMID:29218250|REF_RGD_ID:155804290 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:3651 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:17557270|REF_RGD_ID:2306579 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737223 D RGD:7240710 20230505 OMIM 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737223 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:25741868|PMID:9430590 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:5844 myocardial infarction ISO RGD:3651 D RGD:9068941 20200609 RGD PMID:19187644|REF_RGD_ID:2306567 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:5844 myocardial infarction ISO RGD:3651 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:11820456|REF_RGD_ID:632503 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:630 genetic disease ISO RGD:737223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:684 hepatocellular carcinoma ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144|PMID:28284560 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:824 periodontitis ISO RGD:737223 D RGD:9068941 20200609 RGD PMID:18454663|REF_RGD_ID:2306575 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:8947 diabetic retinopathy severity ISO RGD:737223 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:15630447|REF_RGD_ID:2306559 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:737223 D RGD:9068941 20220422 RGD associated with stomach cancer;mRNA:increased expression:stomach (human) PMID:21633638|REF_RGD_ID:152023624 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9000641 Pain ISO RGD:3651 D RGD:9068941 20200609 RGD PMID:11438578|REF_RGD_ID:2306307 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9000656 Penetrating Wounds ISO RGD:11280 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:17950070|REF_RGD_ID:2306556 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21312072|PMID:23743303 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737223 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:12761880|REF_RGD_ID:2317610 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:737223 D RGD:9068941 20200609 RGD associated with Pancreatic Carcinoma PMID:26330165|REF_RGD_ID:10398726 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9001004 Chronic Periodontitis ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20731768 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9001004 Chronic Periodontitis ISO RGD:737223 D RGD:9068941 20200609 RGD mRNA:increased expression:gingival tissues PMID:21382035|REF_RGD_ID:6480655 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9001600 Wounds and Injuries ISO RGD:3651 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ligament PMID:19327017|REF_RGD_ID:2306564 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:737223 D RGD:9068941 20220310 CTD CTD Direct Evidence: therapeutic PMID:34310909 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9002138 Spinal Cord Reperfusion Injury ISO RGD:3651 D RGD:9068941 20200609 RGD PMID:27760212|REF_RGD_ID:12910551 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9002211 Hyperalgesia ISO RGD:3651 D RGD:9068941 20200609 RGD PMID:28638088|REF_RGD_ID:13838657 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17785557 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9002801 Recurrence ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22607768 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9004009 Reperfusion Injury ISO RGD:3651 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18709383|REF_RGD_ID:2306570 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19700239|PMID:25231984|PMID:25753200 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9004994 Embryo Loss ISO RGD:11280 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:18384776|REF_RGD_ID:2306554 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:11280 D RGD:9068941 20200609 RGD PMID:17878289|REF_RGD_ID:2306557 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3651 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18201529|REF_RGD_ID:2306555 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:737223 D RGD:9068941 20220421 RGD associated with colorectal cancer; human cells in mouse model PMID:30789971|REF_RGD_ID:151893289 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9008763 Femoral Fractures treatment ISO RGD:3651 D RGD:9068941 20200609 RGD PMID:25181476|REF_RGD_ID:11352664 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9008939 Breast Neoplasms ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18521742 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737223 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18451752|REF_RGD_ID:2306553 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9744 type 1 diabetes mellitus ISO RGD:11280 D RGD:9068941 20200609 RGD PMID:12383202|REF_RGD_ID:2306562 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:737223 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr (human) PMID:14679085|REF_RGD_ID:2306561 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:11280 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow PMID:18793419|REF_RGD_ID:2301942 12153803 CXCL12 C-X-C motif chemokine ligand 12 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:737223 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr (human) PMID:11334429|PMID:14522095|REF_RGD_ID:2306560|REF_RGD_ID:2306563 12153812 LIMCH1 LIM and calponin homology domains 1 gene DOID:1790 malignant mesothelioma ISO RGD:1604823 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12153812 LIMCH1 LIM and calponin homology domains 1 gene DOID:303 substance-related disorder ISO RGD:1604823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12153812 LIMCH1 LIM and calponin homology domains 1 gene DOID:630 genetic disease ISO RGD:1604823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153812 LIMCH1 LIM and calponin homology domains 1 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1604823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 12153861 ALDH1A1 aldehyde dehydrogenase 1 family member A1 gene DOID:0060041 autism spectrum disorder ISO RGD:736747 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12153861 ALDH1A1 aldehyde dehydrogenase 1 family member A1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29718361 12153861 ALDH1A1 aldehyde dehydrogenase 1 family member A1 gene DOID:0080855 Parkinsonism ISO RGD:736747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25045800 12153861 ALDH1A1 aldehyde dehydrogenase 1 family member A1 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:736747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 12153861 ALDH1A1 aldehyde dehydrogenase 1 family member A1 gene DOID:1793 pancreatic cancer ISO RGD:736747 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:19216797|REF_RGD_ID:2325688 12153861 ALDH1A1 aldehyde dehydrogenase 1 family member A1 gene DOID:1909 melanoma ISO RGD:736747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31580832 12153861 ALDH1A1 aldehyde dehydrogenase 1 family member A1 gene DOID:409 liver disease ISO RGD:736747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31651977 12153861 ALDH1A1 aldehyde dehydrogenase 1 family member A1 gene DOID:4450 renal cell carcinoma ISO RGD:736747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 12153861 ALDH1A1 aldehyde dehydrogenase 1 family member A1 gene DOID:630 genetic disease ISO RGD:736747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153861 ALDH1A1 aldehyde dehydrogenase 1 family member A1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 12153861 ALDH1A1 aldehyde dehydrogenase 1 family member A1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736747 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26783756|PMID:29626521 12153878 RNF141 ring finger protein 141 gene DOID:630 genetic disease ISO RGD:1350770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153903 PARVA parvin alpha gene DOID:1059 intellectual disability ISO RGD:1352322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12153903 PARVA parvin alpha gene DOID:303 substance-related disorder ISO RGD:1352322 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12153903 PARVA parvin alpha gene DOID:630 genetic disease ISO RGD:1352322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153918 KIZ kizuna centrosomal protein gene DOID:0110410 retinitis pigmentosa 69 ISO RGD:1316045 D RGD:7240710 20180130 OMIM 12153918 KIZ kizuna centrosomal protein gene DOID:0110410 retinitis pigmentosa 69 ISO RGD:1316045 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 69 PMID:24680887|PMID:25741868|PMID:28492532|PMID:28837078|PMID:29057815|PMID:31556760|PMID:32052671 12153918 KIZ kizuna centrosomal protein gene DOID:10584 retinitis pigmentosa ISO RGD:1316045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:24680887|PMID:25741868|PMID:28166811|PMID:28492532|PMID:28837078|PMID:29057815|PMID:31556760|PMID:32052671 12153918 KIZ kizuna centrosomal protein gene DOID:10584 retinitis pigmentosa ISO RGD:1316045 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:24680887|PMID:25741868|PMID:28492532|PMID:28837078|PMID:29057815|PMID:31556760|PMID:32052671 12153918 KIZ kizuna centrosomal protein gene DOID:630 genetic disease ISO RGD:1316045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12153918 KIZ kizuna centrosomal protein gene DOID:8501 fundus dystrophy ISO RGD:1316045 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24680887|PMID:25741868|PMID:28492532|PMID:28837078|PMID:29057815|PMID:31556760|PMID:32052671 12153936 NCOA6 nuclear receptor coactivator 6 gene DOID:0050700 cardiomyopathy ISO RGD:735678 D RGD:9068941 20230323 RGD PMID:26029872|REF_RGD_ID:158014899 12153936 NCOA6 nuclear receptor coactivator 6 gene DOID:12930 dilated cardiomyopathy ISO RGD:735678 D RGD:9068941 20220825 MouseDO 12153936 NCOA6 nuclear receptor coactivator 6 gene DOID:1324 lung cancer ISO RGD:735677 D RGD:9068941 20200609 RGD DNA:amplification:cds (human) PMID:10567404|REF_RGD_ID:9590137 12153936 NCOA6 nuclear receptor coactivator 6 gene DOID:1612 breast cancer ISO RGD:735677 D RGD:9068941 20200609 RGD DNA:amplification:cds (human) PMID:10567404|REF_RGD_ID:9590137 12153936 NCOA6 nuclear receptor coactivator 6 gene DOID:219 colon cancer ISO RGD:735677 D RGD:9068941 20200609 RGD DNA:amplification:cds (human) PMID:10567404|REF_RGD_ID:9590137 12153936 NCOA6 nuclear receptor coactivator 6 gene DOID:2843 long QT syndrome ISO RGD:735677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12153936 NCOA6 nuclear receptor coactivator 6 gene DOID:289 endometriosis ISO RGD:735677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12153936 NCOA6 nuclear receptor coactivator 6 gene DOID:630 genetic disease ISO RGD:735677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12153936 NCOA6 nuclear receptor coactivator 6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:620111 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet (rat) PMID:16738321|REF_RGD_ID:9590126 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:0080726 Ehlers-Danlos syndrome classic type 2 ISO RGD:736788 D RGD:7240710 20190315 OMIM 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:0080726 Ehlers-Danlos syndrome classic type 2 ISO RGD:736788 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: EHLERS DANLOS SYNDROME, MILD CLASSIC TYPE | ClinVar Annotator: match by term: EHLERS DANLOS SYNDROME, MITIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 PMID:11940702|PMID:17576681|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28492532|PMID:2855059|PMID:28550590|PMID:30467950|PMID:31829210|PMID:31903434|PMID:33161638|PMID:9536098 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A PMID:25741868|PMID:28492532 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:736788 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A PMID:17576681|PMID:25326637|PMID:25741868|PMID:28087566|PMID:28492532|PMID:30467950|PMID:33161638|PMID:9536098 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:736788 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A PMID:17576681|PMID:25741868|PMID:28087566|PMID:28492532|PMID:30467950|PMID:33161638|PMID:9536098 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:25741868 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:0111944 immunodeficiency 31B ISO RGD:736788 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:736788 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:11940702|PMID:17576681|PMID:25741868|PMID:28132693|PMID:28492532|PMID:2855059|PMID:28550590|PMID:9536098 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:736788 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11940702|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28166811|PMID:28213671|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:33161638|PMID:9536098 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:736788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11940702|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25326637|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:33161638|PMID:9536098 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:736788 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11940702|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:32736638|PMID:33161638|PMID:9536098 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:14323 Marfan syndrome ISO RGD:736788 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532|PMID:28991257|PMID:31829210 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736788 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:20301422|PMID:20648054|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25326637|PMID:25741868|PMID:28132693|PMID:28166811|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:31903434|PMID:9425231|PMID:9536098|PMID:9783710 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736788 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28166811|PMID:28213671|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:31903434|PMID:33161638|PMID:9425231|PMID:9536098|PMID:9783710 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736788 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25326637|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28166811|PMID:28213671|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:31903434|PMID:33161638|PMID:9425231|PMID:9536098|PMID:9783710 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25741868|PMID:26188975|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31517854|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:33161638|PMID:33834621|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736788 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25326637|PMID:25741868|PMID:26188975|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31517854|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:33161638|PMID:33834621|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736788 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25741868|PMID:26188975|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31517854|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:32736638|PMID:33161638|PMID:33834621|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:1588 thrombocytopenia ISO RGD:736788 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:1882 atrial heart septal defect ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:2213 hemorrhagic disease ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:5082 liver cirrhosis ISO RGD:736788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:520 aortic disease ISO RGD:736788 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:25741868|PMID:28492532 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:630 genetic disease ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:65 connective tissue disease ISO RGD:736788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:17576681|PMID:25741868|PMID:28087566|PMID:28213671|PMID:28492532|PMID:2855059|PMID:28550590|PMID:9536098 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:9001287 Ehlers-Danlos Syndrome Type 4 ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:20648054|PMID:22696272|PMID:23587214|PMID:24922459|PMID:28492532 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:736788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:9003591 Telecanthus ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Telecanthus PMID:25741868|PMID:28492532 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:736788 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532|PMID:28991257|PMID:31829210 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:9005890 Disproportionate Tall Stature ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature PMID:25741868|PMID:28492532 12153964 COL5A2 collagen type V alpha 2 chain gene DOID:9008296 Eye Abnormalities ISO RGD:736788 D RGD:9068941 20200609 RGD DNA:splicing error PMID:16431952|REF_RGD_ID:1600694 12154022 PEX19 peroxisomal biogenesis factor 19 gene DOID:0060178 familial hemiplegic migraine ISO RGD:1315796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 12154022 PEX19 peroxisomal biogenesis factor 19 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1315796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20683989 12154022 PEX19 peroxisomal biogenesis factor 19 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1315796 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) PMID:28492532 12154022 PEX19 peroxisomal biogenesis factor 19 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1315796 D RGD:7240710 20180130 OMIM 12154022 PEX19 peroxisomal biogenesis factor 19 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1315796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:10051604|PMID:16199547|PMID:17576681|PMID:20683989|PMID:21031596|PMID:25741868|PMID:28281558|PMID:28492532|PMID:30561787|PMID:33798445|PMID:9536098 12154022 PEX19 peroxisomal biogenesis factor 19 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1315796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12154022 PEX19 peroxisomal biogenesis factor 19 gene DOID:1540 parathyroid carcinoma ISO RGD:1315796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12154022 PEX19 peroxisomal biogenesis factor 19 gene DOID:630 genetic disease ISO RGD:1315796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12154022 PEX19 peroxisomal biogenesis factor 19 gene DOID:905 Zellweger syndrome ISO RGD:1315796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10051604 12154022 PEX19 peroxisomal biogenesis factor 19 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12154034 LRRC28 leucine rich repeat containing 28 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1316267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 12154034 LRRC28 leucine rich repeat containing 28 gene DOID:630 genetic disease ISO RGD:1316267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154034 LRRC28 leucine rich repeat containing 28 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316267 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12154049 PJA2 praja ring finger ubiquitin ligase 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733552 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12154049 PJA2 praja ring finger ubiquitin ligase 2 gene DOID:630 genetic disease ISO RGD:733552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154049 PJA2 praja ring finger ubiquitin ligase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12154049 PJA2 praja ring finger ubiquitin ligase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733552 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12154064 NOP16 NOP16 nucleolar protein gene DOID:0060071 pre-malignant neoplasm ISO RGD:1605076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12154064 NOP16 NOP16 nucleolar protein gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1605076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12154064 NOP16 NOP16 nucleolar protein gene DOID:0112103 Sotos syndrome 1 ISO RGD:1605076 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12154064 NOP16 NOP16 nucleolar protein gene DOID:630 genetic disease ISO RGD:1605076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154064 NOP16 NOP16 nucleolar protein gene DOID:9007188 Liver Neoplasms ISO RGD:1605076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12154073 LOC479912 glutathione S-transferase Mu 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1606334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12154073 LOC479912 glutathione S-transferase Mu 1 gene DOID:12849 autistic disorder ISO RGD:1606334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12154073 LOC479912 glutathione S-transferase Mu 1 gene DOID:1289 neurodegenerative disease ISO RGD:1606334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 12154073 LOC479912 glutathione S-transferase Mu 1 gene DOID:630 genetic disease ISO RGD:1606334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154073 LOC479912 glutathione S-transferase Mu 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1606334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12154085 MIA2 MIA SH3 domain ER export factor 2 gene DOID:630 genetic disease ISO RGD:1351524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154085 MIA2 MIA SH3 domain ER export factor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1351524 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12154141 RILP Rab interacting lysosomal protein gene DOID:630 genetic disease ISO RGD:1317025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154154 SLC5A7 solute carrier family 5 member 7 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1348839 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868|PMID:30192042 12154154 SLC5A7 solute carrier family 5 member 7 gene DOID:0110661 congenital myasthenic syndrome 20 ISO RGD:1348839 D RGD:7240710 20190315 OMIM 12154154 SLC5A7 solute carrier family 5 member 7 gene DOID:0110661 congenital myasthenic syndrome 20 ISO RGD:1348839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 20 PMID:25741868|PMID:27569547|PMID:28492532 12154154 SLC5A7 solute carrier family 5 member 7 gene DOID:0111201 distal hereditary motor neuronopathy type 7A ISO RGD:1348839 D RGD:7240710 20180130 OMIM 12154154 SLC5A7 solute carrier family 5 member 7 gene DOID:0111201 distal hereditary motor neuronopathy type 7A ISO RGD:1348839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:11294660|PMID:16199547|PMID:17576681|PMID:23141292|PMID:25741868|PMID:27569547|PMID:28492532|PMID:7420092|PMID:9536098 12154154 SLC5A7 solute carrier family 5 member 7 gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1348839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PMID:10431241|PMID:10431242|PMID:18854857|PMID:20979233|PMID:28492532|PMID:28981473 12154154 SLC5A7 solute carrier family 5 member 7 gene DOID:10283 prostate cancer ISO RGD:1348839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12154154 SLC5A7 solute carrier family 5 member 7 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1348839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11294660|PMID:23141292|PMID:7420092 12154154 SLC5A7 solute carrier family 5 member 7 gene DOID:12377 spinal muscular atrophy ISO RGD:1348839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:28492532 12154154 SLC5A7 solute carrier family 5 member 7 gene DOID:1470 major depressive disorder ISO RGD:1348839 D RGD:9068941 20220128 RGD mRNA:decreased expression:habenula: PMID:28420875|REF_RGD_ID:151347550 12154154 SLC5A7 solute carrier family 5 member 7 gene DOID:1596 depressive disorder ISO RGD:1348839 D RGD:9068941 20220128 RGD mRNA:decreased expression:habenula: PMID:28420875|REF_RGD_ID:151347550 12154154 SLC5A7 solute carrier family 5 member 7 gene DOID:2841 asthma ISO RGD:69270 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:17328924|REF_RGD_ID:5686690 12154154 SLC5A7 solute carrier family 5 member 7 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1348839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12154154 SLC5A7 solute carrier family 5 member 7 gene DOID:630 genetic disease ISO RGD:1348839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:27569547|PMID:28492532|PMID:9536098 12154154 SLC5A7 solute carrier family 5 member 7 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1348839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:28492532 12154154 SLC5A7 solute carrier family 5 member 7 gene DOID:9004283 Transplant Rejection ISO RGD:69270 D RGD:9068941 20200609 RGD protein:increased expression:kidney, mononuclear cell PMID:19201987|REF_RGD_ID:9999387 12154167 TMEM38B transmembrane protein 38B gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1347417 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:10545611|PMID:17044012|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19266496|PMID:27065010|PMID:28492532 12154167 TMEM38B transmembrane protein 38B gene DOID:0110343 osteogenesis imperfecta type 14 ISO RGD:1347417 D RGD:7240710 20180130 OMIM 12154167 TMEM38B transmembrane protein 38B gene DOID:0110343 osteogenesis imperfecta type 14 ISO RGD:1347417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 14 PMID:17611541|PMID:23054245|PMID:25741868|PMID:26911354|PMID:28492532 12154167 TMEM38B transmembrane protein 38B gene DOID:12347 osteogenesis imperfecta ISO RGD:1347417 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:24835313|PMID:25741868|PMID:27441836|PMID:28492532|PMID:32123938 12154167 TMEM38B transmembrane protein 38B gene DOID:630 genetic disease ISO RGD:1347417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12154167 TMEM38B transmembrane protein 38B gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347417 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12154181 ARHGEF33 Rho guanine nucleotide exchange factor 33 gene DOID:0080690 RASopathy ISO RGD:3516342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12154181 ARHGEF33 Rho guanine nucleotide exchange factor 33 gene DOID:3883 Lynch syndrome ISO RGD:3516342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12154181 ARHGEF33 Rho guanine nucleotide exchange factor 33 gene DOID:630 genetic disease ISO RGD:3516342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154181 ARHGEF33 Rho guanine nucleotide exchange factor 33 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:3516342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12154201 NHERF1 NHERF family PDZ scaffold protein 1 gene DOID:0080078 hypophosphatemic nephrolithiasis/osteoporosis 2 ISO RGD:1342625 D RGD:7240710 20180130 OMIM 12154201 NHERF1 NHERF family PDZ scaffold protein 1 gene DOID:0080078 hypophosphatemic nephrolithiasis/osteoporosis 2 ISO RGD:1342625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 2 PMID:18784102|PMID:24033266|PMID:25326635|PMID:25741868|PMID:28492532|PMID:28893421 12154201 NHERF1 NHERF family PDZ scaffold protein 1 gene DOID:10763 hypertension ISO RGD:708538 D RGD:9068941 20200609 RGD PMID:15311100|REF_RGD_ID:1580741 12154201 NHERF1 NHERF family PDZ scaffold protein 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:1342625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28235801 12154201 NHERF1 NHERF family PDZ scaffold protein 1 gene DOID:585 nephrolithiasis ISO RGD:1342625 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrolithiasis PMID:18784102|PMID:24033266|PMID:28492532|PMID:28893421 12154201 NHERF1 NHERF family PDZ scaffold protein 1 gene DOID:630 genetic disease ISO RGD:1342625 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154201 NHERF1 NHERF family PDZ scaffold protein 1 gene DOID:784 chronic kidney disease ISO RGD:1342625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:18784102|PMID:25741868|PMID:28492532 12154211 CA11 carbonic anhydrase 11 gene DOID:0080600 COVID-19 ISO RGD:1348503 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12154211 CA11 carbonic anhydrase 11 gene DOID:630 genetic disease ISO RGD:1348503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154224 SACM1L SAC1 like phosphatidylinositide phosphatase gene DOID:630 genetic disease ISO RGD:733012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154224 SACM1L SAC1 like phosphatidylinositide phosphatase gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:733012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12154248 PLTP phospholipid transfer protein gene DOID:0080540 galactosialidosis ISO RGD:1315460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase 12154248 PLTP phospholipid transfer protein gene DOID:10140 dry eye syndrome ISO RGD:1315461 D RGD:9068941 20220825 MouseDO 12154248 PLTP phospholipid transfer protein gene DOID:1936 atherosclerosis ISO RGD:1315460 D RGD:9068941 20200609 RGD protein:increased expression:coronary artery (human) PMID:12835223|REF_RGD_ID:1581039 12154248 PLTP phospholipid transfer protein gene DOID:2234 focal epilepsy ISO RGD:1315460 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12154248 PLTP phospholipid transfer protein gene DOID:630 genetic disease ISO RGD:1315460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12154248 PLTP phospholipid transfer protein gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1315460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12154248 PLTP phospholipid transfer protein gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1315460 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:14695459|REF_RGD_ID:1581038 12154248 PLTP phospholipid transfer protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12154248 PLTP phospholipid transfer protein gene DOID:9003370 Dyslipidemias ISO RGD:1315460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17952847 12154248 PLTP phospholipid transfer protein gene DOID:9006599 Hypertriglyceridemia ISO RGD:1315460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12754275 12154248 PLTP phospholipid transfer protein gene DOID:9007692 Insulin Resistance ISO RGD:1315460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12754275 12154270 ADARB2 adenosine deaminase RNA specific B2 (inactive) gene DOID:13938 amenorrhea ISO RGD:736199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12154270 ADARB2 adenosine deaminase RNA specific B2 (inactive) gene DOID:14330 Parkinson's disease ISO RGD:736199 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 12154270 ADARB2 adenosine deaminase RNA specific B2 (inactive) gene DOID:303 substance-related disorder ISO RGD:736199 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12154270 ADARB2 adenosine deaminase RNA specific B2 (inactive) gene DOID:630 genetic disease ISO RGD:736199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154286 BTG2 BTG anti-proliferation factor 2 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:2225 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, kidney, pancreas PMID:9712737|REF_RGD_ID:2289078 12154286 BTG2 BTG anti-proliferation factor 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:69157 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12154286 BTG2 BTG anti-proliferation factor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:69157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12154286 BTG2 BTG anti-proliferation factor 2 gene DOID:1612 breast cancer ISO RGD:69157 D RGD:9068941 20200609 RGD protein:decreased expression:breast, nucleus PMID:16849553|REF_RGD_ID:2289068 12154286 BTG2 BTG anti-proliferation factor 2 gene DOID:2316 brain ischemia ISO RGD:2225 D RGD:9068941 20200609 RGD mRNA:increased expression:forebrain (rat) PMID:7684483|REF_RGD_ID:2289081 12154286 BTG2 BTG anti-proliferation factor 2 gene DOID:4450 renal cell carcinoma ISO RGD:69157 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:14996721|REF_RGD_ID:2289069 12154286 BTG2 BTG anti-proliferation factor 2 gene DOID:630 genetic disease ISO RGD:69157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154286 BTG2 BTG anti-proliferation factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:69157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18393292 12154286 BTG2 BTG anti-proliferation factor 2 gene DOID:8634 prostate carcinoma in situ ISO RGD:69157 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:11470758|REF_RGD_ID:2289070 12154286 BTG2 BTG anti-proliferation factor 2 gene DOID:9001341 Chloracne ISO RGD:69157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12154286 BTG2 BTG anti-proliferation factor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69157 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:11470758|REF_RGD_ID:2289070 12154286 BTG2 BTG anti-proliferation factor 2 gene DOID:9004009 Reperfusion Injury ISO RGD:2225 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:9712737|REF_RGD_ID:2289078 12154286 BTG2 BTG anti-proliferation factor 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:69157 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12154286 BTG2 BTG anti-proliferation factor 2 gene DOID:9004922 Spinal Cord Ischemia ISO RGD:2225 D RGD:9068941 20200609 RGD PMID:14697320|REF_RGD_ID:2289074 12154286 BTG2 BTG anti-proliferation factor 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2225 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:12909328|REF_RGD_ID:2289075 12154286 BTG2 BTG anti-proliferation factor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:69157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12154292 FBXO33 F-box protein 33 gene DOID:630 genetic disease ISO RGD:1316797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154292 FBXO33 F-box protein 33 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316797 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12154300 SYT16 synaptotagmin 16 gene DOID:630 genetic disease ISO RGD:1346455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154314 SLC43A2 solute carrier family 43 member 2 gene DOID:630 genetic disease ISO RGD:1350504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154314 SLC43A2 solute carrier family 43 member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12154353 CAPN10 calpain 10 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:732443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12154353 CAPN10 calpain 10 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:732443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12154353 CAPN10 calpain 10 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:732443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 12154353 CAPN10 calpain 10 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:732443 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12154353 CAPN10 calpain 10 gene DOID:1059 intellectual disability ISO RGD:732443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12154353 CAPN10 calpain 10 gene DOID:11612 polycystic ovary syndrome ISO RGD:732443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic ovary syndrome, susceptibility to PMID:11017071|PMID:11481585|PMID:12161543|PMID:14574648|PMID:14602801 12154353 CAPN10 calpain 10 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:732443 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs3792267 (human) PMID:20178008|REF_RGD_ID:4107073 12154353 CAPN10 calpain 10 gene DOID:630 genetic disease ISO RGD:732443 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12154353 CAPN10 calpain 10 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:732443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12154353 CAPN10 calpain 10 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69354 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22012129|REF_RGD_ID:7247733 12154353 CAPN10 calpain 10 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69354 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney cortex PMID:22568896|REF_RGD_ID:7247732 12154353 CAPN10 calpain 10 gene DOID:9006646 Metabolic Syndrome ISO RGD:732443 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16546286|REF_RGD_ID:1625050 12154353 CAPN10 calpain 10 gene DOID:9007279 Type 2 Diabetes Mellitus 1 ISO RGD:732443 D RGD:7240710 20180130 OMIM 12154353 CAPN10 calpain 10 gene DOID:9007279 Type 2 Diabetes Mellitus 1 ISO RGD:732443 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus 1, susceptibility to PMID:11017071|PMID:11481585|PMID:12107250|PMID:12161543|PMID:14574648|PMID:14602801|PMID:15240652|PMID:16721485|PMID:25741868|PMID:25773692 12154353 CAPN10 calpain 10 gene DOID:9007692 Insulin Resistance ISO RGD:732443 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs3792267 (human) PMID:11018080|REF_RGD_ID:7247736 12154353 CAPN10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69354 D RGD:9068941 20200609 RGD DNA:SNP PMID:14658759|REF_RGD_ID:737693 12154353 CAPN10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69354 D RGD:9068941 20200609 RGD mRNA:decreased expression PMID:14646187|REF_RGD_ID:1625063 12154353 CAPN10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349674 12154353 CAPN10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732443 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs2975760 (human) PMID:18554168|REF_RGD_ID:7247735 12154353 CAPN10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732443 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16721485|REF_RGD_ID:1625049 12154353 CAPN10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732443 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:SNPs:intron:rs3792267, rs2975760 (human) PMID:20406624|REF_RGD_ID:7247734 12154353 CAPN10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732443 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:19688040|REF_RGD_ID:4107074 12154353 CAPN10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736979 D RGD:9068941 20200609 RGD PMID:22012129|REF_RGD_ID:7247733 12154353 CAPN10 calpain 10 gene DOID:9970 obesity ISO RGD:732443 D RGD:9068941 20200609 RGD DNA:SNPs PMID:16752174|REF_RGD_ID:1625047 12154377 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1350719 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 PMID:10691414|PMID:10835640|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:16885867|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:25010710|PMID:25206283|PMID:25741868|PMID:27535533|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28984793|PMID:34828289 12154377 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12154377 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:10283 prostate cancer severity ISO RGD:1350719 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland, serum PMID:17306443|REF_RGD_ID:2300382 12154377 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1350719 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:urinary bladder PMID:16327984|REF_RGD_ID:2300384 12154377 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:1793 pancreatic cancer ISO RGD:1350719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19896093 12154377 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:1350719 D RGD:9068941 20200609 RGD PMID:15269150|REF_RGD_ID:2300386 12154377 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1350719 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:15963628|REF_RGD_ID:2300385 12154377 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:289 endometriosis disease_progression ISO RGD:1350719 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8988701|REF_RGD_ID:2300390 12154377 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:3702 cervical adenocarcinoma ISO RGD:1350719 D RGD:9068941 20200609 RGD PMID:2258083|REF_RGD_ID:2300391 12154377 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:4450 renal cell carcinoma ISO RGD:1350719 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:10508484|REF_RGD_ID:2300388 12154377 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1350719 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11176522|REF_RGD_ID:2300387 12154377 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:4989 pancreatitis ISO RGD:1350719 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pancreatitis PMID:10691414|PMID:10835640|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:16885867|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:25010710|PMID:25206283|PMID:25741868|PMID:27535533|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28984793|PMID:34828289 12154377 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:9001027 Tropical Calcific Pancreatitis ISO RGD:1350719 D RGD:7240710 20230517 OMIM 12154377 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:9001027 Tropical Calcific Pancreatitis ISO RGD:1350719 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Tropical calcific pancreatitis PMID:10691414|PMID:10835640|PMID:11265669|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:16885867|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:25010710|PMID:25206283|PMID:25741868|PMID:27535533|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28984793|PMID:34828289 12154377 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25735316 12154377 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12154377 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:9005372 Inflammation ISO RGD:3749 D RGD:9068941 20200609 RGD protein:increased expression,increased secretion:liver,serum PMID:7526044|REF_RGD_ID:10043093 12154377 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:9005729 Chronic Experimental Pancreatitis ISO RGD:3749 D RGD:9068941 20200609 RGD protein:increased secretion:pancreatic juice: PMID:12123090|REF_RGD_ID:10044261 12154377 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:9005729 Chronic Experimental Pancreatitis treatment ISO RGD:3749 D RGD:9068941 20200609 RGD PMID:19904222|PMID:22173919|REF_RGD_ID:10043091|REF_RGD_ID:10044253 12154377 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:9006190 Chronic Pancreatitis ISO RGD:1350719 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chronic pancreatitis | ClinVar Annotator: match by term: Pancreatitis, chronic, susceptibility to PMID:10691414|PMID:10835640|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:15980664|PMID:16849362|PMID:16885867|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:18978175|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23017645|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:24909264|PMID:25010710|PMID:25206283|PMID:25741868|PMID:25927356|PMID:26632706|PMID:26719302|PMID:27535533|PMID:27578509|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28984793|PMID:29521951|PMID:31401021|PMID:34828289 12154377 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12154377 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:3749 D RGD:9068941 20200609 RGD PMID:15765407|REF_RGD_ID:10043090 12154377 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1350719 D RGD:9068941 20200609 RGD PMID:9891532|REF_RGD_ID:2300389 12154377 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1350719 D RGD:7240710 20230517 OMIM 12154377 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1350719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:10691414|PMID:10835640|PMID:10982753|PMID:11265669|PMID:11355022|PMID:11368029|PMID:11578065|PMID:11950815|PMID:120111|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12651880|PMID:12658397|PMID:12743777|PMID:12825076|PMID:12853682|PMID:12939655|PMID:14526128|PMID:14722925|PMID:15800694|PMID:15980664|PMID:1613792|PMID:16823394|PMID:16849362|PMID:16885867|PMID:17003641|PMID:17048046|PMID:17204147|PMID:17274009|PMID:17466744|PMID:17525091|PMID:17568390|PMID:17576681|PMID:17681820|PMID:18172691|PMID:18182741|PMID:18206809|PMID:18206817|PMID:18286680|PMID:18414673|PMID:18570327|PMID:18580441|PMID:18617776|PMID:1870127|PMID:18978175|PMID:19299380|PMID:19372376|PMID:19453252|PMID:19565042|PMID:19888199|PMID:20510827|PMID:21303407|PMID:21375584|PMID:21610753|PMID:21952138|PMID:22094894|PMID:22228370|PMID:22343980|PMID:22343981|PMID:22427236|PMID:22526274|PMID:22572128|PMID:22577471|PMID:22749696|PMID:22995991|PMID:23017645|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24052272|PMID:24522117|PMID:24795752|PMID:24844923|PMID:24909264|PMID:25010710|PMID:25206283|PMID:25383785|PMID:25741868|PMID:25792561|PMID:25927356|PMID:26228362|PMID:26348468|PMID:26632706|PMID:26719302|PMID:27171515|PMID:27535533|PMID:27578509|PMID:28320769|PMID:28440306|PMID:28472998|PMID:28492532|PMID:28502372|PMID:28536777|PMID:28546060|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28687971|PMID:28984793|PMID:28994706|PMID:29521951|PMID:30420730|PMID:31391146|PMID:31401021|PMID:31628023|PMID:33097431|PMID:33515547|PMID:33534223|PMID:34828289|PMID:3501289|PMID:35974416|PMID:9536098 12154377 SPINK1 serine peptidase inhibitor Kazal type 1 gene DOID:9351 diabetes mellitus ISO RGD:1350719 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Diabetes mellitus PMID:10835640|PMID:15980664|PMID:16849362|PMID:18978175|PMID:23017645|PMID:23741238|PMID:24909264|PMID:25741868|PMID:25927356|PMID:26632706|PMID:26719302|PMID:27578509|PMID:28492532|PMID:29521951|PMID:31401021 12154384 DNMT3L DNA methyltransferase 3 like gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1343645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 12154384 DNMT3L DNA methyltransferase 3 like gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1343645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12154384 DNMT3L DNA methyltransferase 3 like gene DOID:0110266 cataract 9 multiple types ISO RGD:1343645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12154384 DNMT3L DNA methyltransferase 3 like gene DOID:12849 autistic disorder ISO RGD:1343645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12154384 DNMT3L DNA methyltransferase 3 like gene DOID:630 genetic disease ISO RGD:1343645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154384 DNMT3L DNA methyltransferase 3 like gene DOID:8456 choline deficiency disease ISO RGD:1303239 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:17724018|REF_RGD_ID:9588267 12154384 DNMT3L DNA methyltransferase 3 like gene DOID:891 progressive myoclonus epilepsy ISO RGD:1343645 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12154384 DNMT3L DNA methyltransferase 3 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12154384 DNMT3L DNA methyltransferase 3 like gene DOID:9263 homocystinuria ISO RGD:1343645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12154384 DNMT3L DNA methyltransferase 3 like gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12154400 RBPMS2 RNA binding protein, mRNA processing factor 2 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1351025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12154400 RBPMS2 RNA binding protein, mRNA processing factor 2 gene DOID:2717 Bloom syndrome ISO RGD:1351025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12154400 RBPMS2 RNA binding protein, mRNA processing factor 2 gene DOID:630 genetic disease ISO RGD:1351025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154400 RBPMS2 RNA binding protein, mRNA processing factor 2 gene DOID:9256 colorectal cancer ISO RGD:1351025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12154416 H2AC14 H2A clustered histone 14 gene DOID:630 genetic disease ISO RGD:1342935 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154421 SMIM20 small integral membrane protein 20 gene DOID:630 genetic disease ISO RGD:3418804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154433 RBM38 RNA binding motif protein 38 gene DOID:630 genetic disease ISO RGD:1318308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154433 RBM38 RNA binding motif protein 38 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1318308 D RGD:9068941 20220407 CTD CTD Direct Evidence: therapeutic PMID:34453780 12154433 RBM38 RNA binding motif protein 38 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318308 D RGD:9068941 20220407 CTD CTD Direct Evidence: therapeutic PMID:34453780 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349232 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:0050476 Barth syndrome ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:15351775|PMID:26605526|PMID:27247049|PMID:29618507|PMID:32043567 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:0050800 creatine transporter deficiency ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:0060040 pervasive developmental disorder ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22231481 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:10854091|PMID:11055898|PMID:11738883|PMID:12111643|PMID:12966523|PMID:16473305|PMID:16690727|PMID:16844334|PMID:17089071|PMID:17387578|PMID:19652677|PMID:19914908|PMID:20151026|PMID:21982064|PMID:23921973|PMID:25741868|PMID:26984561|PMID:27799067|PMID:28492532 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349232 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913567|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12567420|PMID:12719401|PMID:12843318|PMID:12872250|PMID:12966523|PMID:14560307|PMID:14598336|PMID:14649554|PMID:15057977|PMID:15173251|PMID:15211631|PMID:15287421|PMID:15389714|PMID:15526954|PMID:15578581|PMID:15737703|PMID:15866439|PMID:16077729|PMID:16183801|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16763963|PMID:16844334|PMID:16879196|PMID:16905679|PMID:17084570|PMID:17089071|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17383248|PMID:17387578|PMID:17427193|PMID:17576681|PMID:17881312|PMID:17914728|PMID:17986102|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18989701|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20116947|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20479760|PMID:20625242|PMID:20631224|PMID:20661168|PMID:21160487|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21764336|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22476991|PMID:22525432|PMID:22679399|PMID:2323808|PMID:23238081|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23421866|PMID:23452848|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24033266|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25283752|PMID:25473036|PMID:25533962|PMID:25634563|PMID:25741868|PMID:26175308|PMID:26347316|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26984561|PMID:27247049|PMID:27255190|PMID:27465203|PMID:27761913|PMID:27781091|PMID:27799067|PMID:27929079|PMID:28089766|PMID:28135719|PMID:28257338|PMID:28394482|PMID:28492532|PMID:28831199|PMID:29141583|PMID:30405208|PMID:30564305|PMID:30788845|PMID:30868116|PMID:31690835|PMID:32393352|PMID:32581362|PMID:32860008|PMID:34837432|PMID:8177735|PMID:9536098 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type susceptibility ISO RGD:1349232 D RGD:7240710 20230517 OMIM 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome ISO RGD:1349232 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13 | ClinVar Annotator: match by term: X-linked intellectual disability-psychosis-macroorchidism syndrome PMID:10232754|PMID:10508514|PMID:1057790|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10986043|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11807877|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12161600|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12552569|PMID:12566531|PMID:12567420|PMID:12615169|PMID:12673788|PMID:12707946|PMID:12719401|PMID:12746405|PMID:12746406|PMID:12750821|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12966523|PMID:14560307|PMID:14598336|PMID:14649554|PMID:15057977|PMID:15173251|PMID:15211631|PMID:15287421|PMID:15389714|PMID:15526954|PMID:15557528|PMID:15558314|PMID:15578581|PMID:15689435|PMID:15718369|PMID:15737703|PMID:15866439|PMID:16077729|PMID:16080119|PMID:16122633|PMID:16183801|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16708070|PMID:16763963|PMID:16832102|PMID:16844334|PMID:16879196|PMID:16905679|PMID:16966553|PMID:17084570|PMID:17089071|PMID:17101771|PMID:17142618|PMID:17171659|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17383248|PMID:17387578|PMID:17427193|PMID:17881312|PMID:17914728|PMID:17986102|PMID:18058624|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18562141|PMID:18678449|PMID:18842453|PMID:18989701|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20116947|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20479760|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20728410|PMID:21160487|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21764336|PMID:21831886|PMID:21878110|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22497713|PMID:22525432|PMID:22670143|PMID:22923521|PMID:2323808|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23421866|PMID:23452848|PMID:23488948|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23859859|PMID:23921973|PMID:24033266|PMID:24321989|PMID:24328834|PMID:24399845|PMID:24453408|PMID:24508304|PMID:24511209|PMID:24715477|PMID:24743294|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25634563|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:26647311|PMID:26741492|PMID:26755454|PMID:26795593|PMID:26842955|PMID:26936630|PMID:26984561|PMID:27255190|PMID:27465203|PMID:27781091|PMID:27799067|PMID:27929079|PMID:28135719|PMID:28250423|PMID:28394482|PMID:28492532|PMID:28831199|PMID:29482495|PMID:29655203|PMID:29720203|PMID:29961512|PMID:30081849|PMID:30083362|PMID:30536762|PMID:30564305|PMID:30573328|PMID:30673959|PMID:30868116|PMID:30945278|PMID:31138832|PMID:31958484|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32581362|PMID:32860008|PMID:34324427|PMID:34837432|PMID:4413922|PMID:8177735|PMID:9038338|PMID:9377804|PMID:9546328 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome susceptibility ISO RGD:1349232 D RGD:7240710 20230517 OMIM 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:10232754|PMID:10508514|PMID:1057790|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10805343|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10986043|PMID:10991688|PMID:10991689|PMID:11005791|PMID:11007980|PMID:11035019|PMID:11055848|PMID:11055878|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11180222|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11283202|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11453972|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738862|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11768391|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913564|PMID:11913567|PMID:1191367|PMID:11930274|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12161600|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12552569|PMID:12555243|PMID:12566531|PMID:12567420|PMID:12615169|PMID:12655490|PMID:12661945|PMID:12673788|PMID:12707062|PMID:12707946|PMID:12719401|PMID:12746405|PMID:12746406|PMID:12750821|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12884430|PMID:12966523|PMID:1402105|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:14974082|PMID:14986829|PMID:15000811|PMID:15034579|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15211631|PMID:15228575|PMID:15287421|PMID:15351775|PMID:15389714|PMID:15492925|PMID:15526954|PMID:15557528|PMID:15578581|PMID:15675358|PMID:15689435|PMID:15689438|PMID:15712379|PMID:15718369|PMID:15737703|PMID:15857422|PMID:15866439|PMID:15875198|PMID:16077729|PMID:16077736|PMID:16080119|PMID:16122633|PMID:16155192|PMID:16182490|PMID:16183801|PMID:16199547|PMID:16225173|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16708070|PMID:16763963|PMID:16832102|PMID:16844334|PMID:16879196|PMID:16905679|PMID:16965328|PMID:17084570|PMID:17088400|PMID:17089071|PMID:17101771|PMID:17142618|PMID:17172942|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17370310|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17440498|PMID:17505203|PMID:17576681|PMID:17712354|PMID:17881312|PMID:17914728|PMID:17968969|PMID:17986102|PMID:18021529|PMID:18058624|PMID:18174548|PMID:18174559|PMID:18190595|PMID:18313390|PMID:18332345|PMID:18334558|PMID:18337588|PMID:18414213|PMID:18477000|PMID:18499664|PMID:18562141|PMID:18572337|PMID:18652533|PMID:18678449|PMID:18810657|PMID:18842453|PMID:18989701|PMID:19034540|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19365833|PMID:19371229|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19724012|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20108430|PMID:20116947|PMID:20142466|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20376788|PMID:20384458|PMID:20479760|PMID:20573179|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20728410|PMID:20815036|PMID:21154482|PMID:21160487|PMID:21178819|PMID:21212452|PMID:21228398|PMID:21300488|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21600714|PMID:21695138|PMID:21764336|PMID:21807996|PMID:21831886|PMID:21871116|PMID:21878110|PMID:21940684|PMID:21954873|PMID:21982064|PMID:22106023|PMID:22182064|PMID:22190343|PMID:22213695|PMID:22277191|PMID:22368975|PMID:22382802|PMID:22476991|PMID:22497713|PMID:22525432|PMID:22561697|PMID:22578097|PMID:22923521|PMID:23220634|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23421866|PMID:23452848|PMID:23488948|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23859859|PMID:23921973|PMID:23938294|PMID:24033266|PMID:24283265|PMID:24321989|PMID:24328834|PMID:24399845|PMID:24453408|PMID:24458799|PMID:24508304 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:24511209|PMID:2460487|PMID:24626160|PMID:24715477|PMID:24743294|PMID:24776741|PMID:24916645|PMID:24970834|PMID:25124696|PMID:25165434|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25541993|PMID:25634563|PMID:25640679|PMID:25741868|PMID:25927341|PMID:26175308|PMID:26254891|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:26544843|PMID:26604147|PMID:26647311|PMID:26741492|PMID:26755454|PMID:26795593|PMID:26800272|PMID:26842955|PMID:26852508|PMID:26930212|PMID:26931468|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27171548|PMID:27255190|PMID:27354166|PMID:27356039|PMID:27442528|PMID:27465203|PMID:27781091|PMID:27799067|PMID:27824329|PMID:27929079|PMID:28089766|PMID:28135719|PMID:28186668|PMID:28250423|PMID:28394409|PMID:28394482|PMID:28465761|PMID:28492532|PMID:28544139|PMID:28785396|PMID:28831199|PMID:28973632|PMID:29046627|PMID:29428920|PMID:29482495|PMID:29655203|PMID:29718204|PMID:29720203|PMID:30081849|PMID:30083362|PMID:30405208|PMID:30536762|PMID:30564305|PMID:30569584|PMID:30573328|PMID:30673959|PMID:30868116|PMID:30945278|PMID:31138832|PMID:31164858|PMID:31439979|PMID:31535341|PMID:31629770|PMID:31958484|PMID:32105570|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32581362|PMID:32722525|PMID:32860008|PMID:34008892|PMID:34324427|PMID:4413922|PMID:5300597|PMID:8177735|PMID:9038338|PMID:9536098|PMID:9546328 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349232 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:10232754|PMID:10508514|PMID:1057790|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10805343|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10986043|PMID:10991688|PMID:10991689|PMID:11005791|PMID:11007980|PMID:11035019|PMID:11055848|PMID:11055878|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11180222|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11283202|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11453972|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738862|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11768391|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913564|PMID:11913567|PMID:1191367|PMID:11930274|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12161600|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12552569|PMID:12555243|PMID:12566531|PMID:12567420|PMID:12615169|PMID:12655490|PMID:12661945|PMID:12673788|PMID:12707062|PMID:12707946|PMID:12719401|PMID:12746405|PMID:12746406|PMID:12750821|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12884430|PMID:12966523|PMID:1402105|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:14974082|PMID:14986829|PMID:15000811|PMID:15034579|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15211631|PMID:15228575|PMID:15287421|PMID:15351775|PMID:15389714|PMID:15492925|PMID:15526954|PMID:15557528|PMID:15578581|PMID:15675358|PMID:15689435|PMID:15689438|PMID:15712379|PMID:15718369|PMID:15737703|PMID:15857422|PMID:15866439|PMID:15875198|PMID:16077729|PMID:16077736|PMID:16080119|PMID:16122633|PMID:16155192|PMID:16182490|PMID:16183801|PMID:16199547|PMID:16225173|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16708070|PMID:16763963|PMID:16832102|PMID:16844334|PMID:16879196|PMID:16905679|PMID:16965328|PMID:17084570|PMID:17088400|PMID:17089071|PMID:17101771|PMID:17142618|PMID:17172942|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17370310|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17440498|PMID:17505203|PMID:17576681|PMID:17712354|PMID:17881312|PMID:17914728|PMID:17968969|PMID:17986102|PMID:18021529|PMID:18047645|PMID:18058624|PMID:18174548|PMID:18174559|PMID:18190595|PMID:18313390|PMID:18332345|PMID:18334558|PMID:18337588|PMID:18414213|PMID:18477000|PMID:18499664|PMID:18562141|PMID:18572337|PMID:18652533|PMID:18678449|PMID:18810657|PMID:18842453|PMID:18989701|PMID:19034540|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19365833|PMID:19371229|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19724012|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20108430|PMID:20116947|PMID:20142466|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20376788|PMID:20384458|PMID:20479760|PMID:20573179|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20728410|PMID:20815036|PMID:21154482|PMID:21160487|PMID:21178819|PMID:21212452|PMID:21228398|PMID:21300488|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21600714|PMID:21695138|PMID:21764336|PMID:21807996|PMID:21831886|PMID:21871116|PMID:21878110|PMID:21940684|PMID:21954873|PMID:21982064|PMID:22106023|PMID:22182064|PMID:22190343|PMID:22213695|PMID:22277191|PMID:22368975|PMID:22382802|PMID:22476991|PMID:22497713|PMID:22525432|PMID:22561697|PMID:22578097|PMID:22659343|PMID:22679399|PMID:22923521|PMID:23220634|PMID:2323808|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23421866|PMID:23452848|PMID:23488948|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23859859|PMID:23921973|PMID:23938294|PMID:24033266|PMID:24283265|PMID:24321989|PMID:24328834 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349232 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:24399845|PMID:24453408|PMID:24458799|PMID:24508304|PMID:24511209|PMID:2460487|PMID:24626160|PMID:24715477|PMID:24743294|PMID:24776741|PMID:24916645|PMID:24970834|PMID:25124696|PMID:25165434|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25541993|PMID:25634563|PMID:25640679|PMID:25741868|PMID:25927341|PMID:26175308|PMID:26254891|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:26544843|PMID:26604147|PMID:26647311|PMID:26741492|PMID:26755454|PMID:26795593|PMID:26800272|PMID:26842955|PMID:26852508|PMID:26930212|PMID:26931468|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27171548|PMID:27255190|PMID:27354166|PMID:27356039|PMID:27442528|PMID:27465203|PMID:27781091|PMID:27799067|PMID:27824329|PMID:27929079|PMID:28089766|PMID:28135719|PMID:28186668|PMID:28250423|PMID:28394409|PMID:28394482|PMID:28465761|PMID:28492532|PMID:28544139|PMID:28785396|PMID:28831199|PMID:28973632|PMID:29046627|PMID:29428920|PMID:29482495|PMID:29655203|PMID:29718204|PMID:29720203|PMID:30081849|PMID:30083362|PMID:30405208|PMID:30536762|PMID:30564305|PMID:30569584|PMID:30573328|PMID:30673959|PMID:30868116|PMID:30945278|PMID:31138832|PMID:31164858|PMID:31206249|PMID:31439979|PMID:31535341|PMID:31602196|PMID:31629770|PMID:31958484|PMID:32105570|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32581362|PMID:32722525|PMID:32860008|PMID:34008892|PMID:34324427|PMID:34837432|PMID:4413922|PMID:5300597|PMID:8177735|PMID:9038338|PMID:9536098|PMID:9546328 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation susceptibility ISO RGD:1349232 D RGD:7240710 20230517 OMIM 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:0112003 immunodeficiency 33 ISO RGD:1349232 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12418965|PMID:12552569|PMID:12567420|PMID:12673788|PMID:12707946|PMID:12746405|PMID:12746406|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12966523|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15228575|PMID:15389714|PMID:15526954|PMID:15558314|PMID:15737703|PMID:16077729|PMID:16122633|PMID:16183801|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:17084570|PMID:17089071|PMID:17276711|PMID:17341617|PMID:17387578|PMID:17505203|PMID:17986102|PMID:18174559|PMID:18332345|PMID:18334558|PMID:18414213|PMID:18562141|PMID:18652533|PMID:19189931|PMID:19234536|PMID:19309283|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20151026|PMID:20301670|PMID:20479760|PMID:20631224|PMID:21154482|PMID:21160487|PMID:21372149|PMID:21695138|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22525432|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24283265|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24626160|PMID:24743294|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25326635|PMID:25473036|PMID:25541993|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26936630|PMID:27465203|PMID:27929079|PMID:28394482|PMID:28492532|PMID:29720203|PMID:30536762|PMID:32214227|PMID:32581362|PMID:32860008|PMID:34008892|PMID:4413922|PMID:9038338 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1349232 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12418965|PMID:12552569|PMID:12567420|PMID:12673788|PMID:12707946|PMID:12746405|PMID:12746406|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12966523|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15228575|PMID:15389714|PMID:15526954|PMID:15558314|PMID:15737703|PMID:16077729|PMID:16122633|PMID:16183801|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:17084570|PMID:17089071|PMID:17276711|PMID:17341617|PMID:17387578|PMID:17505203|PMID:17986102|PMID:18174559|PMID:18332345|PMID:18334558|PMID:18414213|PMID:18562141|PMID:18652533|PMID:19189931|PMID:19234536|PMID:19309283|PMID:19652677|PMID:19722030|PMID:20031356|PMID:20093853|PMID:20301670|PMID:20479760|PMID:20631224|PMID:21154482|PMID:21160487|PMID:21372149|PMID:21695138|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22525432|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24283265|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24626160|PMID:24743294|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25326635|PMID:25473036|PMID:25541993|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26936630|PMID:27465203|PMID:27929079|PMID:28394482|PMID:28492532|PMID:32214227|PMID:32581362|PMID:32860008|PMID:34008892|PMID:4413922|PMID:9038338 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1349232 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12418965|PMID:12552569|PMID:12567420|PMID:12673788|PMID:12707946|PMID:12746405|PMID:12746406|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12966523|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15228575|PMID:15389714|PMID:15526954|PMID:15558314|PMID:15737703|PMID:16077729|PMID:16122633|PMID:16183801|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:17084570|PMID:17089071|PMID:17276711|PMID:17341617|PMID:17387578|PMID:17505203|PMID:17986102|PMID:18174559|PMID:18332345|PMID:18334558|PMID:18414213|PMID:18562141|PMID:18652533|PMID:19189931|PMID:19234536|PMID:19309283|PMID:19652677|PMID:19722030|PMID:20031356|PMID:20093853|PMID:20301670|PMID:20479760|PMID:20631224|PMID:21154482|PMID:21160487|PMID:21372149|PMID:21695138|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22525432|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24283265|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24626160|PMID:24743294|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25326635|PMID:25473036|PMID:25541993|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26936630|PMID:27465203|PMID:27781091|PMID:27929079|PMID:28394482|PMID:28492532|PMID:32214227|PMID:32581362|PMID:32860008|PMID:34008892|PMID:4413922|PMID:9038338 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1349232 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12418965|PMID:12552569|PMID:12567420|PMID:12673788|PMID:12707946|PMID:12746405|PMID:12746406|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12966523|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15228575|PMID:15389714|PMID:15526954|PMID:15558314|PMID:15737703|PMID:16077729|PMID:16122633|PMID:16183801|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:17084570|PMID:17089071|PMID:17101771|PMID:17276711|PMID:17341617|PMID:17387578|PMID:17505203|PMID:17986102|PMID:18174559|PMID:18332345|PMID:18334558|PMID:18337588|PMID:18414213|PMID:18562141|PMID:18652533|PMID:19189931|PMID:19234536|PMID:19309283|PMID:19652677|PMID:19722030|PMID:20031356|PMID:20093853|PMID:20301670|PMID:20479760|PMID:20631224|PMID:21154482|PMID:21160487|PMID:21372149|PMID:21695138|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22525432|PMID:2323808|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24283265|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24626160|PMID:24743294|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25326635|PMID:25473036|PMID:25541993|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26795593|PMID:26936630|PMID:27465203|PMID:27781091|PMID:27929079|PMID:28394482|PMID:28492532|PMID:29720203|PMID:30536762|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32581362|PMID:32860008|PMID:34008892|PMID:34324427|PMID:34837432|PMID:4413922|PMID:9038338 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:10907 microcephaly ISO RGD:1349232 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:11007980|PMID:11071498|PMID:11309367|PMID:11772708|PMID:11805248|PMID:11885030|PMID:12325019|PMID:12843318|PMID:14598336|PMID:20301670|PMID:21831886|PMID:24328834|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:27465203|PMID:27781091|PMID:27929079|PMID:28492532|PMID:32581362 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:10767337|PMID:12384770|PMID:12566531|PMID:12872250|PMID:16763963|PMID:18414213|PMID:28492532 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:11162 respiratory failure ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19559301 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:11832 visual epilepsy ISO RGD:3075 D RGD:9068941 20220728 RGD mRNA:increased expression:dentate gyrus PMID:12123686|REF_RGD_ID:9587847 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:1206 Rett syndrome ISO RGD:1349232 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rett syndrome | ClinVar Annotator: match by term: Rett's disorder PMID:10508514|PMID:1057790|PMID:10577905|PMID:10737989|PMID:10745042|PMID:10767337|PMID:10805343|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10986043|PMID:10991688|PMID:10991689|PMID:11005791|PMID:11007980|PMID:11022934|PMID:11035019|PMID:11055848|PMID:11055878|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11180222|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11283202|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11453972|PMID:11462237|PMID:11469283|PMID:11524737|PMID:11524741|PMID:11738860|PMID:11738862|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11768391|PMID:11772708|PMID:11805248|PMID:11807877|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913564|PMID:11913567|PMID:1191367|PMID:11930274|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081720|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12161600|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12481990|PMID:12552569|PMID:12567420|PMID:12615169|PMID:12655490|PMID:12661945|PMID:12673788|PMID:12707062|PMID:12707946|PMID:12719401|PMID:12746405|PMID:12746406|PMID:12750821|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12884430|PMID:12966522|PMID:12966523|PMID:1402105|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:14974082|PMID:14986829|PMID:15000811|PMID:15034579|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15211631|PMID:15228575|PMID:15241799|PMID:15287421|PMID:15389714|PMID:15526954|PMID:15557528|PMID:15578581|PMID:15675358|PMID:15689438|PMID:15691364|PMID:15712379|PMID:15718369|PMID:15737703|PMID:15841480|PMID:15857422|PMID:15866439|PMID:15875198|PMID:16077729|PMID:16077736|PMID:16080119|PMID:16122633|PMID:16155192|PMID:16182490|PMID:16183801|PMID:16199547|PMID:16225173|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16630165|PMID:16672765|PMID:16690727|PMID:16708070|PMID:16763963|PMID:16829352|PMID:16832102|PMID:16844334|PMID:16879196|PMID:16905679|PMID:16965328|PMID:16966553|PMID:17026625|PMID:17084570|PMID:17089071|PMID:17101771|PMID:17142618|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17370310|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17440498|PMID:17505203|PMID:17576681|PMID:17881312|PMID:17914728|PMID:17968969|PMID:17986102|PMID:18021529|PMID:18058624|PMID:18174548|PMID:18174559|PMID:18190595|PMID:18313390|PMID:18332345|PMID:18334558|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18562141|PMID:18652533|PMID:18678449|PMID:18688080|PMID:18842453|PMID:18989701|PMID:19034540|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19365833|PMID:19371229|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19724012|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20108430|PMID:20116947|PMID:20142466|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20376788|PMID:20384458|PMID:20479760|PMID:20573179|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20728410|PMID:20815036|PMID:21154482|PMID:21160487|PMID:21178819|PMID:21212452|PMID:21228398|PMID:21300488|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21600714|PMID:21695138|PMID:21764336|PMID:21807996|PMID:21812101|PMID:21831886|PMID:21871116|PMID:21878110|PMID:21940684|PMID:21954873|PMID:21982064|PMID:22001500|PMID:22106023|PMID:22182064|PMID:22190343|PMID:22213695|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22497713|PMID:22525432|PMID:22561697|PMID:22923521|PMID:2323808|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23352163|PMID:23421866|PMID:23452848|PMID:23488948|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23859859|PMID:23866855|PMID:23921973|PMID:24033266|PMID:24283265|PMID:24321989|PMID:24328834 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:1206 Rett syndrome ISO RGD:1349232 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Rett syndrome | ClinVar Annotator: match by term: Rett's disorder PMID:24399845|PMID:24453408|PMID:24508304|PMID:24511209|PMID:2460487|PMID:24626160|PMID:24715477|PMID:24743294|PMID:24776741|PMID:24916645|PMID:24970834|PMID:25124696|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25541993|PMID:25590979|PMID:25634563|PMID:25741868|PMID:25927341|PMID:26175308|PMID:26254891|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:26544843|PMID:26604147|PMID:26647311|PMID:26741492|PMID:26755454|PMID:26795593|PMID:26800272|PMID:26842955|PMID:26931468|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27255190|PMID:27354166|PMID:27356039|PMID:27442528|PMID:27465203|PMID:27781091|PMID:27799067|PMID:27824329|PMID:27929079|PMID:28135719|PMID:28250423|PMID:28394482|PMID:28397838|PMID:28465761|PMID:28492532|PMID:28544139|PMID:28785396|PMID:28831199|PMID:28973632|PMID:29046627|PMID:29482495|PMID:29655203|PMID:29718204|PMID:29720203|PMID:29961512|PMID:30081849|PMID:30083362|PMID:30536762|PMID:30564305|PMID:30569584|PMID:30573328|PMID:30673959|PMID:30868116|PMID:30945278|PMID:31138832|PMID:31164858|PMID:31206249|PMID:31439979|PMID:31535341|PMID:31629770|PMID:31958484|PMID:32105570|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32581362|PMID:32860008|PMID:34008892|PMID:34324427|PMID:34837432|PMID:4413922|PMID:5300597|PMID:8166633|PMID:8177735|PMID:9038338|PMID:9377804|PMID:9536098|PMID:9546328 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:1206 Rett syndrome susceptibility ISO RGD:1349232 D RGD:7240710 20230517 OMIM 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:12849 autistic disorder ISO RGD:1349232 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 3 PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913567|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12566531|PMID:12567420|PMID:12673788|PMID:12719401|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12966523|PMID:1402105|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:15057977|PMID:15173251|PMID:15211631|PMID:15287421|PMID:15389714|PMID:15526954|PMID:15578581|PMID:15737703|PMID:15866439|PMID:16077729|PMID:16183801|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16763963|PMID:16844334|PMID:16879196|PMID:16905679|PMID:17084570|PMID:17089071|PMID:17142618|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17881312|PMID:17914728|PMID:17986102|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18989701|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20116947|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20479760|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20815036|PMID:21160487|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21600714|PMID:21681106|PMID:21764336|PMID:21831886|PMID:21878110|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22476991|PMID:22525432|PMID:2323808|PMID:23238081|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23352163|PMID:23421866|PMID:23452848|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24033266|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24715477|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25634563|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26604147|PMID:26647311|PMID:26800272|PMID:26842955|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27255190|PMID:27442528|PMID:27465203|PMID:27781091|PMID:27799067|PMID:27929079|PMID:28135719|PMID:28394482|PMID:28465761|PMID:28492532|PMID:28785396|PMID:28831199|PMID:29046627|PMID:29655203|PMID:29720203|PMID:30208311|PMID:30536762|PMID:30564305|PMID:30868116|PMID:31535341|PMID:31958484|PMID:32214227|PMID:32393352|PMID:32581362|PMID:32860008|PMID:34837432|PMID:8177735|PMID:9038338 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:12849 autistic disorder susceptibility ISO RGD:1349232 D RGD:7240710 20230517 OMIM 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:13628 favism ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:1826 epilepsy ISO RGD:1349232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:10767337|PMID:10854091|PMID:11245712|PMID:11524741|PMID:12075485|PMID:12111643|PMID:12180070|PMID:12615169|PMID:16473305|PMID:16690727|PMID:17089071|PMID:17142618|PMID:17387578|PMID:18174559|PMID:19914908|PMID:20151026|PMID:20301670|PMID:21160487|PMID:21954873|PMID:21982064|PMID:22277191|PMID:25741868|PMID:28492532 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:1932 Angelman syndrome ISO RGD:1349232 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome | ClinVar Annotator: match by term: HAPPY PUPPET SYNDROME PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11022934|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283202|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12065946|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12210319|PMID:12325033|PMID:12418965|PMID:12552569|PMID:12567420|PMID:12655490|PMID:12673788|PMID:12707946|PMID:12719401|PMID:12746406|PMID:12843318|PMID:12872250|PMID:12966523|PMID:14560307|PMID:14649554|PMID:15057977|PMID:15173251|PMID:15389714|PMID:15526954|PMID:15737703|PMID:15866439|PMID:16122633|PMID:16183801|PMID:16225173|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16905679|PMID:17089071|PMID:17101771|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17387578|PMID:17881312|PMID:17986102|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18562141|PMID:18989701|PMID:19133691|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19371229|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20116947|PMID:20231667|PMID:20301670|PMID:20631224|PMID:20661168|PMID:21160487|PMID:21372149|PMID:21420494|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22525432|PMID:22561697|PMID:2323808|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23421866|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24511209|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25533962|PMID:25741868|PMID:25927341|PMID:26175308|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26795593|PMID:27929079|PMID:28135719|PMID:28394482|PMID:28492532|PMID:30536762|PMID:30564305|PMID:30868116|PMID:31439979|PMID:32393352|PMID:32472557|PMID:32860008|PMID:34324427|PMID:34837432|PMID:4413922|PMID:8177735 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:2030 anxiety disorder ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22231481 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:2234 focal epilepsy ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:25741868 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:224 transient cerebral ischemia ISO RGD:3075 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:12421618|REF_RGD_ID:9587846 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:2303 stereotypic movement disorder ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:15737703|PMID:25741868 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1349232 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:2846 bruxism ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bruxism PMID:15737703|PMID:25741868 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21435439 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:5419 schizophrenia ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:20479760 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:607 paraplegia ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:630 genetic disease ISO RGD:1349232 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10508514|PMID:1057790|PMID:10577905|PMID:10737989|PMID:10745042|PMID:10767337|PMID:10805343|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11005791|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11227330|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11283202|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081720|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12161600|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12552569|PMID:12566531|PMID:12567420|PMID:12615169|PMID:12655490|PMID:12661945|PMID:12673788|PMID:12707062|PMID:12707946|PMID:12719401|PMID:12746405|PMID:12746406|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12884430|PMID:12966523|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:14986829|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15211631|PMID:15228575|PMID:15287421|PMID:15389714|PMID:15492925|PMID:15526954|PMID:15557528|PMID:15558314|PMID:15578581|PMID:15718369|PMID:15737703|PMID:15866439|PMID:15875198|PMID:16077729|PMID:16077736|PMID:16122633|PMID:16169931|PMID:16182490|PMID:16183801|PMID:16225173|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16708070|PMID:16763963|PMID:16832102|PMID:16844334|PMID:16879196|PMID:16905679|PMID:17084570|PMID:17089071|PMID:17101771|PMID:17142618|PMID:17236109|PMID:17267601|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17505203|PMID:17576681|PMID:17881312|PMID:17914728|PMID:17986102|PMID:18058624|PMID:18174548|PMID:18174559|PMID:18190595|PMID:18313390|PMID:18332345|PMID:18334558|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18562141|PMID:18652533|PMID:18842453|PMID:18989701|PMID:19133691|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19724012|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20116947|PMID:20142466|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20384458|PMID:20405910|PMID:20479760|PMID:20573179|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20728410|PMID:20815036|PMID:21154482|PMID:21160487|PMID:21178819|PMID:21228398|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21695138|PMID:21764336|PMID:21831886|PMID:21940684|PMID:21954873|PMID:21982064|PMID:22106023|PMID:22182064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22497713|PMID:22525432|PMID:22561697|PMID:22923521|PMID:2323808|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23421866|PMID:23452848|PMID:23488948|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23859859|PMID:23921973|PMID:23938294|PMID:24033266|PMID:24283265|PMID:24328834|PMID:24399845|PMID:24453408|PMID:24458799|PMID:24508304|PMID:24511209|PMID:2460487|PMID:24626160|PMID:24715477|PMID:24743294|PMID:24916645|PMID:24970834|PMID:25124696|PMID:25165434|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25541993|PMID:25634563|PMID:25741868|PMID:25927341|PMID:26064184|PMID:26175308|PMID:26254891|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:26604147|PMID:26647311|PMID:26741492|PMID:26755454|PMID:26795593|PMID:26800272|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27255190|PMID:27354166|PMID:27356039|PMID:27442528|PMID:27465203|PMID:27781091|PMID:27799067|PMID:27929079|PMID:28135719|PMID:28186668|PMID:28250423|PMID:28394409 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:630 genetic disease ISO RGD:1349232 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28394482|PMID:28465761|PMID:28492532|PMID:28498846|PMID:28544139|PMID:28785396|PMID:28831199|PMID:29046627|PMID:29482495|PMID:29655203|PMID:29720203|PMID:30081849|PMID:30083362|PMID:30536762|PMID:30564305|PMID:30573328|PMID:30673959|PMID:30868116|PMID:30945278|PMID:31138832|PMID:31164858|PMID:31535341|PMID:31958484|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32581362|PMID:32860008|PMID:34008892|PMID:34324427|PMID:34837432|PMID:4413922|PMID:5300597|PMID:8166633|PMID:8177735|PMID:9038338|PMID:9536098|PMID:9546328 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26189965 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:3075 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:11844796|REF_RGD_ID:2289670 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:77 gastrointestinal system disease susceptibility ISO RGD:1349232 D RGD:9068941 20200609 RGD associated with Rett Syndrome;DNA:mutations:multiple (human) PMID:22331013|REF_RGD_ID:12790976 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:8927 learning disability ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19921286 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:9001325 Rett Syndrome, Atypical ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:10508514|PMID:10854091|PMID:11035019|PMID:11055898|PMID:11269512|PMID:11283202|PMID:11313756|PMID:11524741|PMID:11738883|PMID:12180070|PMID:15737703|PMID:17089071|PMID:17387578|PMID:19914908|PMID:25741868|PMID:25927341|PMID:28492532 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:9002211 Hyperalgesia ISO RGD:1349232 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33010341 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3075 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus: PMID:16380407|REF_RGD_ID:9588242 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:9002720 Splenomegaly ISO RGD:1349232 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:10767337|PMID:10991688|PMID:11007980|PMID:11055848|PMID:11055898|PMID:11071498|PMID:11309367|PMID:11772708|PMID:11805248|PMID:11885030|PMID:12325019|PMID:12843318|PMID:14598336|PMID:14649554|PMID:15057977|PMID:16473305|PMID:18414213|PMID:20301670|PMID:21831886|PMID:23696494|PMID:23770565|PMID:23921973|PMID:24328834|PMID:24511209|PMID:24970834|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:27465203|PMID:27781091|PMID:27929079|PMID:28492532|PMID:32581362 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:9004536 Rett Syndrome, Zappella Variant ISO RGD:1349232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rett syndrome, zappella variant PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10852707|PMID:10854091|PMID:10991688|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11106359|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309679|PMID:11313756|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12111643|PMID:12180070|PMID:12325033|PMID:12552569|PMID:12567420|PMID:12673788|PMID:12707946|PMID:12746406|PMID:12770674|PMID:12843318|PMID:12966523|PMID:14560307|PMID:15057977|PMID:15173251|PMID:15389714|PMID:15526954|PMID:15737703|PMID:16122633|PMID:16473305|PMID:16690727|PMID:16763963|PMID:16844334|PMID:17089071|PMID:17101771|PMID:17142618|PMID:17341617|PMID:17387578|PMID:17986102|PMID:18332345|PMID:18414213|PMID:18562141|PMID:18989701|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20151026|PMID:20301670|PMID:21160487|PMID:21831886|PMID:21878110|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:23260135|PMID:23262346|PMID:23421866|PMID:23696494|PMID:23810759|PMID:23921973|PMID:25741868|PMID:26175308|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26795593|PMID:26842955|PMID:26984561|PMID:27799067|PMID:27929079|PMID:28394482|PMID:28492532|PMID:29655203|PMID:30536762|PMID:32472557|PMID:34324427|PMID:4413922 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:9004538 Hearing Loss ISO RGD:1349232 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:11007980|PMID:11071498|PMID:11309367|PMID:11772708|PMID:11805248|PMID:11885030|PMID:12325019|PMID:12843318|PMID:14598336|PMID:20301670|PMID:21831886|PMID:24328834|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:27465203|PMID:27781091|PMID:27929079|PMID:28492532|PMID:32581362 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19559301 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:9005616 Micrognathism ISO RGD:1349232 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:11007980|PMID:11071498|PMID:11309367|PMID:11772708|PMID:11805248|PMID:11885030|PMID:12325019|PMID:12843318|PMID:14598336|PMID:20301670|PMID:21831886|PMID:24328834|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:27465203|PMID:27781091|PMID:27929079|PMID:28492532|PMID:32581362 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20711185 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:9005632 Cocaine-Related Disorders treatment ISO RGD:3075 D RGD:9068941 20200609 RGD PMID:20711185|REF_RGD_ID:12789445 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1349232 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.E137G, p.R167W (human) PMID:11309367|REF_RGD_ID:1601320 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:9006205 Animal Disease Models ISO RGD:1349232 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:28592917|PMID:33010341 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11913567|PMID:11960578|PMID:12065946|PMID:12111643|PMID:12180070|PMID:12325033|PMID:1241840|PMID:12567420|PMID:12719401|PMID:12843318|PMID:12872250|PMID:12966523|PMID:14560307|PMID:15057977|PMID:15173251|PMID:15389714|PMID:15526954|PMID:15737703|PMID:15866439|PMID:16183801|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16763963|PMID:16905679|PMID:17089071|PMID:17236109|PMID:17341617|PMID:17351020|PMID:17387578|PMID:17881312|PMID:17986102|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18989701|PMID:19133691|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20116947|PMID:20231667|PMID:20301670|PMID:20631224|PMID:20661168|PMID:21160487|PMID:21420494|PMID:21575601|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22476991|PMID:22525432|PMID:23238081|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23696494|PMID:23810759|PMID:23921973|PMID:25533962|PMID:25634563|PMID:25741868|PMID:26467025|PMID:26647311|PMID:28135719|PMID:28492532|PMID:30564305|PMID:30868116|PMID:8177735 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:9007722 Myoclonus ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19559301 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10854091|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:11106359|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11738860|PMID:11738864|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11913567|PMID:11960578|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12325033|PMID:12746405|PMID:12872250|PMID:12872251|PMID:14536082|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15228575|PMID:15389714|PMID:15526954|PMID:15737703|PMID:16077729|PMID:16183801|PMID:16473305|PMID:16629931|PMID:16672765|PMID:17089071|PMID:17341617|PMID:17387578|PMID:17505203|PMID:17986102|PMID:18334558|PMID:18652533|PMID:19722030|PMID:20031356|PMID:20301670|PMID:20631224|PMID:21154482|PMID:21160487|PMID:21695138|PMID:21982064|PMID:22277191|PMID:23238081|PMID:23262346|PMID:23270700|PMID:24283265|PMID:24399845|PMID:24511209|PMID:24626160|PMID:25167861|PMID:25541993|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34008892 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:9008514 Psychomotor Disorders ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098342 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:9008582 Developmental Disease ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28492532 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:9008689 Facial Hypertrichosis ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Facial hypertrichosis PMID:32581362 12154441 MECP2 methyl-CpG binding protein 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19559301 12154550 RAB7A RAB7A, member RAS oncogene family gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1351789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 12154550 RAB7A RAB7A, member RAS oncogene family gene DOID:0110159 Charcot-Marie-Tooth disease type 2B ISO RGD:1351789 D RGD:7240710 20180130 OMIM 12154550 RAB7A RAB7A, member RAS oncogene family gene DOID:0110159 Charcot-Marie-Tooth disease type 2B ISO RGD:1351789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B PMID:10636124|PMID:11094113|PMID:12545426|PMID:15455439|PMID:17060578|PMID:17576681|PMID:18272684|PMID:18501189|PMID:19531583|PMID:19651702|PMID:20028791|PMID:21151572|PMID:22971099|PMID:23179371|PMID:23188822|PMID:23458836|PMID:24344282|PMID:24498653|PMID:24521780|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26791407|PMID:27462242|PMID:28492532|PMID:29130394|PMID:32326241|PMID:33846303|PMID:9536098 12154550 RAB7A RAB7A, member RAS oncogene family gene DOID:0111947 immunodeficiency 21 ISO RGD:1351789 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:22147895|PMID:23223431|PMID:28492532 12154550 RAB7A RAB7A, member RAS oncogene family gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1351789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10636124|PMID:11094113|PMID:12545426|PMID:15455439|PMID:17060578|PMID:18272684|PMID:19531583|PMID:19651702|PMID:20028791|PMID:21151572|PMID:22971099|PMID:23179371|PMID:23188822|PMID:24498653|PMID:24521780|PMID:25741868|PMID:26467025|PMID:26791407|PMID:27462242|PMID:28492532|PMID:29130394 12154550 RAB7A RAB7A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1351789 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12154550 RAB7A RAB7A, member RAS oncogene family gene DOID:9007102 Myocardial Ischemia ISO RGD:1351789 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12154550 RAB7A RAB7A, member RAS oncogene family gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1351789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532|PMID:31710708 12154550 RAB7A RAB7A, member RAS oncogene family gene DOID:9240 erythromelalgia ISO RGD:1351789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sodium channelopathy-related small fiber neuropathy 12154550 RAB7A RAB7A, member RAS oncogene family gene DOID:9270 alkaptonuria ISO RGD:1351789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12154565 LEPROTL1 leptin receptor overlapping transcript like 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12154565 LEPROTL1 leptin receptor overlapping transcript like 1 gene DOID:630 genetic disease ISO RGD:1316198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154578 HABP2 hyaluronan binding protein 2 gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:1350340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombophilia due to thrombin defect PMID:25741868|PMID:28492532 12154578 HABP2 hyaluronan binding protein 2 gene DOID:0111907 thrombophilia due to thrombin defect susceptibility ISO RGD:1350340 D RGD:7240710 20230505 OMIM 12154578 HABP2 hyaluronan binding protein 2 gene DOID:2452 thrombophilia ISO RGD:1350340 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 12154578 HABP2 hyaluronan binding protein 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1302979 D RGD:9068941 20200609 RGD PMID:20818495|REF_RGD_ID:11353855 12154578 HABP2 hyaluronan binding protein 2 gene DOID:630 genetic disease ISO RGD:1350340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154578 HABP2 hyaluronan binding protein 2 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1302979 D RGD:9068941 20200609 RGD associated with Thyroid Neoplasms PMID:22715430|REF_RGD_ID:11353856 12154578 HABP2 hyaluronan binding protein 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:1350340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12154578 HABP2 hyaluronan binding protein 2 gene DOID:9003505 Venous Thromboembolism ISO RGD:1350340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Venous thromboembolism, susceptibility to PMID:12138371|PMID:12578864|PMID:15486068|PMID:26222560|PMID:26581001|PMID:26581002|PMID:26581003|PMID:26581004|PMID:26581005 12154578 HABP2 hyaluronan binding protein 2 gene DOID:9003505 Venous Thromboembolism disease_progression ISO RGD:1350340 D RGD:9068941 20200609 RGD DNA:SNP: :p.G534E (rs7080536) (human) PMID:22421107|REF_RGD_ID:11353820 12154578 HABP2 hyaluronan binding protein 2 gene DOID:9003871 Venous Thrombosis ISO RGD:1350340 D RGD:9068941 20200609 RGD DNA:SNP: :p.G534E (rs7080536) (human) PMID:22421107|REF_RGD_ID:11353820 12154578 HABP2 hyaluronan binding protein 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1302979 D RGD:9068941 20200609 RGD PMID:22715430|REF_RGD_ID:11353856 12154578 HABP2 hyaluronan binding protein 2 gene DOID:9005359 Hereditary Thrombophilia ISO RGD:1350340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Factor VII Marburg I Variant Thrombophilia PMID:12138371|PMID:12578864|PMID:15486068|PMID:25741868|PMID:26222560|PMID:26581001|PMID:26581002|PMID:26581003|PMID:26581004|PMID:26581005|PMID:28492532 12154578 HABP2 hyaluronan binding protein 2 gene DOID:9007597 Thyroid Cancer, Nonmedullary, 5 ISO RGD:1350340 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 5 PMID:12138371|PMID:12578864|PMID:15486068|PMID:25741868|PMID:26222560|PMID:26581001|PMID:26581002|PMID:26581003|PMID:26581004|PMID:26581005 12154578 HABP2 hyaluronan binding protein 2 gene DOID:9007597 Thyroid Cancer, Nonmedullary, 5 susceptibility ISO RGD:1350340 D RGD:7240710 20230505 OMIM 12154599 ABRAXAS2 abraxas 2, BRISC complex subunit gene DOID:630 genetic disease ISO RGD:1318962 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154612 SPARCL1 SPARC like 1 gene DOID:1826 epilepsy ISO RGD:736595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488994 12154612 SPARCL1 SPARC like 1 gene DOID:289 endometriosis ISO RGD:736595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12154612 SPARCL1 SPARC like 1 gene DOID:630 genetic disease ISO RGD:736595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154612 SPARCL1 SPARC like 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12154650 AP3S1 adaptor related protein complex 3 subunit sigma 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1322400 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12154650 AP3S1 adaptor related protein complex 3 subunit sigma 1 gene DOID:12849 autistic disorder ISO RGD:1322400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12154650 AP3S1 adaptor related protein complex 3 subunit sigma 1 gene DOID:630 genetic disease ISO RGD:1322400 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154650 AP3S1 adaptor related protein complex 3 subunit sigma 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12154650 AP3S1 adaptor related protein complex 3 subunit sigma 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12154650 AP3S1 adaptor related protein complex 3 subunit sigma 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322400 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12154664 PBX2 PBX homeobox 2 gene DOID:0050553 JMP syndrome ISO RGD:1350680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12154664 PBX2 PBX homeobox 2 gene DOID:630 genetic disease ISO RGD:1350680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154677 EVC2 EvC ciliary complex subunit 2 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1321308 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:17024374|PMID:19251731|PMID:19810119|PMID:19876929|PMID:25741868|PMID:28492532|PMID:29068549 12154677 EVC2 EvC ciliary complex subunit 2 gene DOID:0050778 Meckel syndrome ISO RGD:1321308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25558065 12154677 EVC2 EvC ciliary complex subunit 2 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1321308 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:12571802|PMID:17024374|PMID:19810119|PMID:19876929|PMID:21199751|PMID:22190900|PMID:23026208|PMID:25525159|PMID:25741868|PMID:28492532|PMID:29068549 12154677 EVC2 EvC ciliary complex subunit 2 gene DOID:0111571 Weyers acrofacial dysostosis ISO RGD:1321308 D RGD:7240710 20180130 OMIM 12154677 EVC2 EvC ciliary complex subunit 2 gene DOID:0111571 Weyers acrofacial dysostosis ISO RGD:1321308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Curry-Hall syndrome PMID:16404586|PMID:17024374|PMID:18182642|PMID:19251731|PMID:19810119|PMID:19876929|PMID:23220543|PMID:25741868|PMID:28492532 12154677 EVC2 EvC ciliary complex subunit 2 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1321308 D RGD:7240710 20180130 OMIM 12154677 EVC2 EvC ciliary complex subunit 2 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1321308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:12468274|PMID:12571802|PMID:16199547|PMID:16404586|PMID:17024374|PMID:17576681|PMID:18454448|PMID:19251731|PMID:19810119|PMID:19876929|PMID:20184732|PMID:21199751|PMID:21815252|PMID:22190900|PMID:22406498|PMID:23026208|PMID:23220543|PMID:24033266|PMID:25047945|PMID:25174843|PMID:25326635|PMID:25500235|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26064711|PMID:26580685|PMID:26748586|PMID:26818569|PMID:27168972|PMID:27280866|PMID:28492532|PMID:29068549|PMID:29456477|PMID:30881389|PMID:31645978|PMID:32369273|PMID:7218275|PMID:9536098 12154677 EVC2 EvC ciliary complex subunit 2 gene DOID:12714 Ellis-Van Creveld syndrome susceptibility ISO RGD:1321308 D RGD:9068941 20200609 RGD DNA:mutations PMID:12571802|REF_RGD_ID:1600212 12154677 EVC2 EvC ciliary complex subunit 2 gene DOID:630 genetic disease ISO RGD:1321308 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12468274|PMID:17024374|PMID:19810119|PMID:19876929|PMID:23220543|PMID:24033266|PMID:25525159|PMID:25741868|PMID:28492532 12154677 EVC2 EvC ciliary complex subunit 2 gene DOID:6678 tooth and nail syndrome ISO RGD:1321308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 12154677 EVC2 EvC ciliary complex subunit 2 gene DOID:9249 Beemer-Langer syndrome ISO RGD:1321308 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome PMID:17024374|PMID:19810119|PMID:19876929|PMID:25741868|PMID:28492532|PMID:29068549 12154710 MIR190B microRNA mir-190b gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:2290210 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 12154710 MIR190B microRNA mir-190b gene DOID:9005091 Lentivirus Infections ISO RGD:2290210 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26937033 12154727 LOC403585 serum amyloid A1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:5013868 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 12154727 LOC403585 serum amyloid A1 gene DOID:1059 intellectual disability ISO RGD:5013868 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability 12154743 OAZ3 ornithine decarboxylase antizyme 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1347463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12154743 OAZ3 ornithine decarboxylase antizyme 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1347463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12154743 OAZ3 ornithine decarboxylase antizyme 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1347463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12154743 OAZ3 ornithine decarboxylase antizyme 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1347463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12154743 OAZ3 ornithine decarboxylase antizyme 3 gene DOID:5812 MHC class II deficiency ISO RGD:1347463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12154743 OAZ3 ornithine decarboxylase antizyme 3 gene DOID:630 genetic disease ISO RGD:1347463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154743 OAZ3 ornithine decarboxylase antizyme 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12154752 LOC478038 protocadherin gamma-C5 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1353179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12154752 LOC478038 protocadherin gamma-C5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353179 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12154752 LOC478038 protocadherin gamma-C5 gene DOID:630 genetic disease ISO RGD:1353179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154752 LOC478038 protocadherin gamma-C5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12154752 LOC478038 protocadherin gamma-C5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353179 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12154847 TEKT3 tektin 3 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1321573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:1303230|PMID:1677316|PMID:1822787|PMID:28492532 12154847 TEKT3 tektin 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1321573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23044707|PMID:25741868|PMID:27569545 12154847 TEKT3 tektin 3 gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:1321573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA PMID:25741868 12154847 TEKT3 tektin 3 gene DOID:12849 autistic disorder ISO RGD:1321573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12154847 TEKT3 tektin 3 gene DOID:5419 schizophrenia ISO RGD:1321573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12154847 TEKT3 tektin 3 gene DOID:630 genetic disease ISO RGD:1321573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154847 TEKT3 tektin 3 gene DOID:9003963 Spermatogenic Failure 81 ISO RGD:1321573 D RGD:7240710 20230505 OMIM 12154847 TEKT3 tektin 3 gene DOID:9003963 Spermatogenic Failure 81 ISO RGD:1321573 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 81 PMID:36708031 12154862 ATP5F1A ATP synthase F1 subunit alpha gene DOID:0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 ISO RGD:734400 D RGD:7240710 20180130 OMIM 12154862 ATP5F1A ATP synthase F1 subunit alpha gene DOID:0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 ISO RGD:734400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 4 PMID:23599390 12154862 ATP5F1A ATP synthase F1 subunit alpha gene DOID:0060356 Vici syndrome ISO RGD:734400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 12154862 ATP5F1A ATP synthase F1 subunit alpha gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:619993 D RGD:9068941 20200609 RGD PMID:25222487|REF_RGD_ID:13703054 12154862 ATP5F1A ATP synthase F1 subunit alpha gene DOID:0111498 combined oxidative phosphorylation deficiency 22 ISO RGD:734400 D RGD:7240710 20180130 OMIM 12154862 ATP5F1A ATP synthase F1 subunit alpha gene DOID:0111498 combined oxidative phosphorylation deficiency 22 ISO RGD:734400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ATP5F1A-related condition | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 22 PMID:23596069|PMID:25741868|PMID:28492532|PMID:34954817 12154862 ATP5F1A ATP synthase F1 subunit alpha gene DOID:1059 intellectual disability ISO RGD:734400 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12154862 ATP5F1A ATP synthase F1 subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:734400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19374891 12154862 ATP5F1A ATP synthase F1 subunit alpha gene DOID:10652 Alzheimer's disease onset ISO RGD:734401 D RGD:9068941 20200609 RGD protein:increased modification:inferior parietal cortex (human) PMID:19374891|REF_RGD_ID:13703046 12154862 ATP5F1A ATP synthase F1 subunit alpha gene DOID:10652 Alzheimer's disease treatment ISO RGD:619993 D RGD:9068941 20200609 RGD PMID:25561935|REF_RGD_ID:13703056 12154862 ATP5F1A ATP synthase F1 subunit alpha gene DOID:10763 hypertension ISO RGD:619993 D RGD:9068941 20200609 RGD protein:decreased expression:heart left ventricle (rat) PMID:24388463|REF_RGD_ID:7800726 12154862 ATP5F1A ATP synthase F1 subunit alpha gene DOID:3650 lactic acidosis ISO RGD:734400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lactic acidosis PMID:25741868 12154862 ATP5F1A ATP synthase F1 subunit alpha gene DOID:630 genetic disease ISO RGD:734400 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154862 ATP5F1A ATP synthase F1 subunit alpha gene DOID:6432 pulmonary hypertension treatment ISO RGD:619993 D RGD:9068941 20200609 RGD chronic thromboembolic pulmonary hypertension PMID:21396162|REF_RGD_ID:13703061 12154862 ATP5F1A ATP synthase F1 subunit alpha gene DOID:8725 vascular dementia ISO RGD:734400 D RGD:9068941 20200609 RGD PMID:24448401|REF_RGD_ID:14696801 12154862 ATP5F1A ATP synthase F1 subunit alpha gene DOID:9000099 Experimental Colitis treatment ISO RGD:619993 D RGD:9068941 20200609 RGD PMID:25689466|REF_RGD_ID:13703055 12154862 ATP5F1A ATP synthase F1 subunit alpha gene DOID:9002231 Fetal Growth Retardation ISO RGD:619993 D RGD:9068941 20200609 RGD protein:increased expression:retroperitoneal fat pad (rat) PMID:26633942|REF_RGD_ID:13703049 12154862 ATP5F1A ATP synthase F1 subunit alpha gene DOID:9002669 Hypoxia ISO RGD:619993 D RGD:9068941 20200609 RGD protein:decreased expression:gastrocnemius (rat) PMID:22401655|REF_RGD_ID:13703058 12154862 ATP5F1A ATP synthase F1 subunit alpha gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:734400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 12154862 ATP5F1A ATP synthase F1 subunit alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619993 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex, mitochondrion (rat) PMID:28526935|REF_RGD_ID:13703047 12154862 ATP5F1A ATP synthase F1 subunit alpha gene DOID:9005930 Endotoxemia ISO RGD:734400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16741687 12154862 ATP5F1A ATP synthase F1 subunit alpha gene DOID:9008691 Liver Injury ISO RGD:619993 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:25772430|REF_RGD_ID:13800895 12154862 ATP5F1A ATP synthase F1 subunit alpha gene DOID:9008824 Sarcopenia ISO RGD:619993 D RGD:9068941 20200609 RGD protein:increased localization:gastrocnemius (rat) PMID:20850499|REF_RGD_ID:13703063 12154878 SPDEF SAM pointed domain containing ETS transcription factor gene DOID:0050553 JMP syndrome ISO RGD:1318473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12154878 SPDEF SAM pointed domain containing ETS transcription factor gene DOID:2394 ovarian cancer disease_progression ISO RGD:1318473 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:ovary PMID:18567002|REF_RGD_ID:2298935 12154878 SPDEF SAM pointed domain containing ETS transcription factor gene DOID:630 genetic disease ISO RGD:1318473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154878 SPDEF SAM pointed domain containing ETS transcription factor gene DOID:9002762 Ovarian Neoplasms ISO RGD:1318473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18567002 12154893 ASB15 ankyrin repeat and SOCS box containing 15 gene DOID:4450 renal cell carcinoma ISO RGD:1346506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 12154893 ASB15 ankyrin repeat and SOCS box containing 15 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12154893 ASB15 ankyrin repeat and SOCS box containing 15 gene DOID:630 genetic disease ISO RGD:1346506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154931 SERPINB13 serpin family B member 13 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1312230 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12154931 SERPINB13 serpin family B member 13 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1312230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 12154931 SERPINB13 serpin family B member 13 gene DOID:10283 prostate cancer ISO RGD:1312230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12154931 SERPINB13 serpin family B member 13 gene DOID:630 genetic disease ISO RGD:1312230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154944 NAALAD2 N-acetylated alpha-linked acidic dipeptidase 2 gene DOID:1059 intellectual disability ISO RGD:1314164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12154944 NAALAD2 N-acetylated alpha-linked acidic dipeptidase 2 gene DOID:630 genetic disease ISO RGD:1314164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12154944 NAALAD2 N-acetylated alpha-linked acidic dipeptidase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12154991 FERMT1 FERM domain containing kindlin 1 gene DOID:0060472 Kindler syndrome ISO RGD:1315645 D RGD:7240710 20190315 OMIM 12154991 FERMT1 FERM domain containing kindlin 1 gene DOID:0060472 Kindler syndrome ISO RGD:1315645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kindler syndrome PMID:12668616|PMID:12789646|PMID:14507403|PMID:14962093|PMID:15313809|PMID:16199547|PMID:16675959|PMID:16702500|PMID:17178989|PMID:17460733|PMID:17916195|PMID:18528435|PMID:19292718|PMID:19762715|PMID:20938162|PMID:21336475|PMID:21936020|PMID:22220914|PMID:22466645|PMID:24346923|PMID:24635075|PMID:24635080|PMID:25156791|PMID:25437880|PMID:25599393|PMID:25741868|PMID:27293055|PMID:27862150|PMID:28443301|PMID:28492532|PMID:29130490|PMID:29453417|PMID:30838128|PMID:31340837|PMID:31957900 12154991 FERMT1 FERM domain containing kindlin 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1315645 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12154991 FERMT1 FERM domain containing kindlin 1 gene DOID:1272 telangiectasis ISO RGD:1315645 D RGD:9068941 20200609 RGD Kindler syndrome, OMIM:173650 DNA:point_mutation:CDS:C787T, amino acid Q263X PMID:12668616|REF_RGD_ID:1600405 12154991 FERMT1 FERM domain containing kindlin 1 gene DOID:2731 vesiculobullous skin disease ISO RGD:1315645 D RGD:9068941 20200609 RGD Kindler syndrome, OMIM:173650 DNA:point_mutation:CDS:C787T, amino acid Q263X PMID:12668616|REF_RGD_ID:1600405 12154991 FERMT1 FERM domain containing kindlin 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1315645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12154991 FERMT1 FERM domain containing kindlin 1 gene DOID:630 genetic disease ISO RGD:1315645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12154991 FERMT1 FERM domain containing kindlin 1 gene DOID:9004462 Atrophy ISO RGD:1315645 D RGD:9068941 20200609 RGD Kindler syndrome, OMIM:173650 DNA:point_mutation:CDS:C787T, amino acid Q263X PMID:12668616|REF_RGD_ID:1600405 12154991 FERMT1 FERM domain containing kindlin 1 gene DOID:9006976 Erythema ISO RGD:1315645 D RGD:9068941 20200609 RGD Kindler syndrome, OMIM:173650 DNA:point_mutation:CDS:C787T, amino acid Q263X PMID:12668616|REF_RGD_ID:1600405 12155013 NYAP2 neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 gene DOID:630 genetic disease ISO RGD:2311477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155013 NYAP2 neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2311477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12155042 RECQL RecQ like helicase gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:1322333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532 12155042 RECQL RecQ like helicase gene DOID:1324 lung cancer ISO RGD:1322333 D RGD:9068941 20200609 RGD PMID:18422747|REF_RGD_ID:2317370 12155042 RECQL RecQ like helicase gene DOID:162 cancer ISO RGD:1322333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cancer 12155042 RECQL RecQ like helicase gene DOID:1793 pancreatic cancer ISO RGD:1322333 D RGD:9068941 20200609 RGD PMID:18422747|REF_RGD_ID:2317370 12155042 RECQL RecQ like helicase gene DOID:1793 pancreatic cancer ISO RGD:1322333 D RGD:9068941 20200609 RGD DNA:SNP:3'utr:rs13035 (human) PMID:16540687|REF_RGD_ID:2317365 12155042 RECQL RecQ like helicase gene DOID:1793 pancreatic cancer ISO RGD:1322333 D RGD:9068941 20200609 RGD DNA:SNPs:introns PMID:19768149|REF_RGD_ID:2317369 12155042 RECQL RecQ like helicase gene DOID:1826 epilepsy ISO RGD:1322333 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:25915596|PMID:26467025|PMID:28492532|PMID:32546565 12155042 RECQL RecQ like helicase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1322333 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:25915596|PMID:25945795|PMID:26467025|PMID:27125668|PMID:28492532|PMID:32546565|PMID:32566746|PMID:33471991|PMID:33563768|PMID:33649982 12155042 RECQL RecQ like helicase gene DOID:630 genetic disease ISO RGD:1322333 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12155042 RECQL RecQ like helicase gene DOID:684 hepatocellular carcinoma ISO RGD:1322333 D RGD:9068941 20200609 RGD PMID:18422747|REF_RGD_ID:2317370 12155042 RECQL RecQ like helicase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1322333 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:18422747|REF_RGD_ID:2317370 12155042 RECQL RecQ like helicase gene DOID:687 hepatoblastoma ISO RGD:1322333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 12155042 RECQL RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:19768149|PMID:25741868|PMID:25915596|PMID:25945795|PMID:26467025|PMID:27125668|PMID:28492532|PMID:29341116|PMID:29351780|PMID:30224651|PMID:30613976|PMID:32566746|PMID:9536098 12155042 RECQL RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322333 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:19768149|PMID:23852950|PMID:25741868|PMID:25915596|PMID:25945795|PMID:26467025|PMID:27125668|PMID:27832498|PMID:28492532|PMID:28591191|PMID:28724667|PMID:29341116|PMID:29351780|PMID:29555771|PMID:29625052|PMID:30224651|PMID:30267214|PMID:30610487|PMID:30613976|PMID:31173646|PMID:31312277|PMID:31444271|PMID:31469826|PMID:31604778|PMID:31659152|PMID:32029870|PMID:32338768|PMID:32471518|PMID:32517021|PMID:32546565|PMID:32566746|PMID:33342430|PMID:33471991|PMID:33563768|PMID:33649982|PMID:9536098 12155042 RECQL RecQ like helicase gene DOID:9007661 Dwarfism ISO RGD:1322333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12155042 RECQL RecQ like helicase gene DOID:9008939 Breast Neoplasms ISO RGD:1322333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25915596 12155042 RECQL RecQ like helicase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1322333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:28492532 12155078 NPBWR1 neuropeptides B and W receptor 1 gene DOID:5419 schizophrenia ISO RGD:1314235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12155078 NPBWR1 neuropeptides B and W receptor 1 gene DOID:630 genetic disease ISO RGD:1314235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155084 GSTCD glutathione S-transferase C-terminal domain containing gene DOID:630 genetic disease ISO RGD:1602688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155084 GSTCD glutathione S-transferase C-terminal domain containing gene DOID:9002304 Prostatic Neoplasms ISO RGD:1602688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 12155102 NWD2 NACHT and WD repeat domain containing 2 gene DOID:630 genetic disease ISO RGD:1603203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155119 TAF5L TATA-box binding protein associated factor 5 like gene DOID:1540 parathyroid carcinoma ISO RGD:1320985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12155119 TAF5L TATA-box binding protein associated factor 5 like gene DOID:630 genetic disease ISO RGD:1320985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155119 TAF5L TATA-box binding protein associated factor 5 like gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1320985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 12155119 TAF5L TATA-box binding protein associated factor 5 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12155128 MLXIPL MLX interacting protein like gene DOID:0060041 autism spectrum disorder ISO RGD:1343873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12155128 MLXIPL MLX interacting protein like gene DOID:10923 sickle cell anemia ISO RGD:1343873 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12155128 MLXIPL MLX interacting protein like gene DOID:12849 autistic disorder ISO RGD:1343873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12155128 MLXIPL MLX interacting protein like gene DOID:1928 Williams-Beuren syndrome ISO RGD:1343873 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868|PMID:28492532 12155128 MLXIPL MLX interacting protein like gene DOID:2661 myoepithelioma ISO RGD:1343873 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12155128 MLXIPL MLX interacting protein like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12155128 MLXIPL MLX interacting protein like gene DOID:5419 schizophrenia ISO RGD:1343873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12155128 MLXIPL MLX interacting protein like gene DOID:630 genetic disease ISO RGD:1343873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155128 MLXIPL MLX interacting protein like gene DOID:684 hepatocellular carcinoma ISO RGD:1343873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 12155128 MLXIPL MLX interacting protein like gene DOID:783 end stage renal disease ISO RGD:1343873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 12155128 MLXIPL MLX interacting protein like gene DOID:8445 intestinal volvulus ISO RGD:1343873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12155128 MLXIPL MLX interacting protein like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12155128 MLXIPL MLX interacting protein like gene DOID:9008419 Volvulus Of Midgut ISO RGD:1343873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12155128 MLXIPL MLX interacting protein like gene DOID:9778 irritable bowel syndrome ISO RGD:1621550 D RGD:9068941 20220825 MouseDO 12155158 HMCN1 hemicentin 1 gene DOID:0110014 age related macular degeneration 1 ISO RGD:1605323 D RGD:7240710 20180130 OMIM 12155158 HMCN1 hemicentin 1 gene DOID:0110014 age related macular degeneration 1 ISO RGD:1605323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 1 | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1 PMID:14570714|PMID:17216616|PMID:17576681|PMID:25133751|PMID:25338956|PMID:25741868|PMID:25986072|PMID:27007659|PMID:28492532|PMID:9536098|PMID:9715689 12155158 HMCN1 hemicentin 1 gene DOID:10283 prostate cancer ISO RGD:1605323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12155158 HMCN1 hemicentin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1605323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12155158 HMCN1 hemicentin 1 gene DOID:4448 macular degeneration ISO RGD:1605323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:28492532 12155158 HMCN1 hemicentin 1 gene DOID:630 genetic disease ISO RGD:1605323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12155158 HMCN1 hemicentin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12155280 NOL4 nucleolar protein 4 gene DOID:1059 intellectual disability ISO RGD:1321698 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12155280 NOL4 nucleolar protein 4 gene DOID:630 genetic disease ISO RGD:1321698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155305 CMA1 chymase 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:735367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12155305 CMA1 chymase 1 gene DOID:10763 hypertension ISO RGD:735367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14620933 12155305 CMA1 chymase 1 gene DOID:11335 sarcoidosis ISO RGD:735367 D RGD:9068941 20200609 RGD DNA:snp:5' utr:g.-526C>T (human) PMID:16446531|REF_RGD_ID:5128561 12155305 CMA1 chymase 1 gene DOID:11984 hypertrophic cardiomyopathy susceptibility ISO RGD:735367 D RGD:9068941 20200609 RGD DNA:snp:5' utr:g.-1903G>A rs1800875 (human) PMID:8759823|REF_RGD_ID:5128572 12155305 CMA1 chymase 1 gene DOID:1591 renovascular hypertension ISO RGD:2365 D RGD:9068941 20211224 RGD protein:increased activity:kidney (rat) PMID:15869764|REF_RGD_ID:1581745 12155305 CMA1 chymase 1 gene DOID:1682 congenital heart disease ISO RGD:735367 D RGD:9068941 20200609 RGD protein:increased expression:lung interstitial tissue, vasculature, mast cell (human) PMID:10508822|REF_RGD_ID:5128660 12155305 CMA1 chymase 1 gene DOID:2841 asthma no_association ISO RGD:735367 D RGD:9068941 20200609 RGD DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human) PMID:15248847|REF_RGD_ID:1625397 12155305 CMA1 chymase 1 gene DOID:2841 asthma severity ISO RGD:735367 D RGD:9068941 20200609 RGD protein:increased expression:lung epithelium, mast cell (human) PMID:20813890|REF_RGD_ID:5128804 12155305 CMA1 chymase 1 gene DOID:2841 asthma susceptibility ISO RGD:735367 D RGD:9068941 20200609 RGD DNA:duplications:3' utr:g.*254-?dupTG, dupGA (human) PMID:15924217|REF_RGD_ID:1625396 12155305 CMA1 chymase 1 gene DOID:3082 interstitial lung disease ISO RGD:735367 D RGD:9068941 20200609 RGD protein:increased expression:lung, mast cell (human) PMID:17334631|REF_RGD_ID:5128816 12155305 CMA1 chymase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735367 D RGD:9068941 20200609 RGD protein:increased expression:respiratory tract epithelium, mast cell (human) PMID:18783610|REF_RGD_ID:5128552 12155305 CMA1 chymase 1 gene DOID:3310 atopic dermatitis ISO RGD:735367 D RGD:9068941 20200609 RGD DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human) PMID:16134991|REF_RGD_ID:1625394 12155305 CMA1 chymase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:735367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15297733 12155305 CMA1 chymase 1 gene DOID:630 genetic disease ISO RGD:735367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155305 CMA1 chymase 1 gene DOID:820 myocarditis ISO RGD:735368 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle (mouse) PMID:14578624|REF_RGD_ID:5128509 12155305 CMA1 chymase 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:735367 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12155305 CMA1 chymase 1 gene DOID:9002019 Granuloma ISO RGD:2365 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor (rat) PMID:15723097|REF_RGD_ID:5128499 12155305 CMA1 chymase 1 gene DOID:9003936 Cardiomegaly ISO RGD:735368 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle (mouse) PMID:11828013|REF_RGD_ID:5128508 12155305 CMA1 chymase 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:735367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14620933 12155305 CMA1 chymase 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:735367 D RGD:9068941 20200609 RGD human gene in mouse model PMID:14620933|REF_RGD_ID:5128600 12155305 CMA1 chymase 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:735367 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12155305 CMA1 chymase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2365 D RGD:9068941 20200609 RGD protein:increased expression:mesenteric artery, mast cell (rat) PMID:15337505|REF_RGD_ID:5128799 12155305 CMA1 chymase 1 gene DOID:9007278 Anaphylaxis ISO RGD:735367 D RGD:9068941 20200609 RGD protein:increased expression:lung, mast cell (human) PMID:17081716|REF_RGD_ID:5128820 12155305 CMA1 chymase 1 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:735367 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa, mast cell (human) PMID:11549546|REF_RGD_ID:5128839 12155314 PAPLN papilin, proteoglycan like sulfated glycoprotein gene DOID:1059 intellectual disability ISO RGD:1322495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12155314 PAPLN papilin, proteoglycan like sulfated glycoprotein gene DOID:630 genetic disease ISO RGD:1322495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155352 NRK Nik related kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12155352 NRK Nik related kinase gene DOID:12849 autistic disorder ISO RGD:1344667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12155352 NRK Nik related kinase gene DOID:630 genetic disease ISO RGD:1344667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12155393 RGS12 regulator of G protein signaling 12 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:731521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12155393 RGS12 regulator of G protein signaling 12 gene DOID:1856 cherubism ISO RGD:731521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12155393 RGS12 regulator of G protein signaling 12 gene DOID:5419 schizophrenia ISO RGD:731521 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12155393 RGS12 regulator of G protein signaling 12 gene DOID:630 genetic disease ISO RGD:731521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155425 TAS2R40 taste 2 receptor member 40 gene DOID:630 genetic disease ISO RGD:1351253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155428 MLEC malectin gene DOID:630 genetic disease ISO RGD:1354476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155442 AAGAB alpha and gamma adaptin binding protein gene DOID:0080214 punctate palmoplantar keratoderma type I ISO RGD:1605954 D RGD:7240710 20180130 OMIM 12155442 AAGAB alpha and gamma adaptin binding protein gene DOID:0080214 punctate palmoplantar keratoderma type I ISO RGD:1605954 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma, punctate type 1A PMID:17576681|PMID:23000146|PMID:23064416|PMID:23563198|PMID:23633024|PMID:24390136|PMID:25741868|PMID:26608363|PMID:28492532|PMID:9536098 12155442 AAGAB alpha and gamma adaptin binding protein gene DOID:14004 thoracic aortic aneurysm ISO RGD:1605954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:21778426|PMID:24804794|PMID:28492532 12155442 AAGAB alpha and gamma adaptin binding protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1605954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12155442 AAGAB alpha and gamma adaptin binding protein gene DOID:2717 Bloom syndrome ISO RGD:1605954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12155442 AAGAB alpha and gamma adaptin binding protein gene DOID:3390 palmoplantar keratosis ISO RGD:1605954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma PMID:25741868 12155442 AAGAB alpha and gamma adaptin binding protein gene DOID:630 genetic disease ISO RGD:1605954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12155442 AAGAB alpha and gamma adaptin binding protein gene DOID:9256 colorectal cancer ISO RGD:1605954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12155460 ATF3 activating transcription factor 3 gene DOID:0050700 cardiomyopathy ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25136830 12155460 ATF3 activating transcription factor 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:10198 D RGD:9068941 20200609 RGD PMID:26522727|REF_RGD_ID:13506817 12155460 ATF3 activating transcription factor 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:735760 D RGD:9068941 20200609 RGD PMID:26522727|REF_RGD_ID:13506817 12155460 ATF3 activating transcription factor 3 gene DOID:10283 prostate cancer treatment ISO RGD:735760 D RGD:9068941 20200609 RGD PMID:26944919|REF_RGD_ID:13506816 12155460 ATF3 activating transcription factor 3 gene DOID:10892 hypospadias ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18001166 12155460 ATF3 activating transcription factor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:735760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12155460 ATF3 activating transcription factor 3 gene DOID:2957 pulmonary tuberculosis ISO RGD:735760 D RGD:9068941 20200702 RGD mRNA,protein:increased expression:lung PMID:20856677|REF_RGD_ID:34888225 12155460 ATF3 activating transcription factor 3 gene DOID:3525 middle cerebral artery infarction ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 12155460 ATF3 activating transcription factor 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043644 12155460 ATF3 activating transcription factor 3 gene DOID:574 peripheral nervous system disease ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17686523 12155460 ATF3 activating transcription factor 3 gene DOID:630 genetic disease ISO RGD:735760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155460 ATF3 activating transcription factor 3 gene DOID:863 nervous system disease ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18701217|PMID:18754875 12155460 ATF3 activating transcription factor 3 gene DOID:9001488 Human Influenza ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12155460 ATF3 activating transcription factor 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12155460 ATF3 activating transcription factor 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16516039 12155460 ATF3 activating transcription factor 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15674352 12155460 ATF3 activating transcription factor 3 gene DOID:9003936 Cardiomegaly ISO RGD:735760 D RGD:9068941 20200609 RGD PMID:11485922|REF_RGD_ID:7327201 12155460 ATF3 activating transcription factor 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12155460 ATF3 activating transcription factor 3 gene DOID:9007188 Liver Neoplasms ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21159647 12155460 ATF3 activating transcription factor 3 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:735760 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:34364923 12155460 ATF3 activating transcription factor 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2165 D RGD:9068941 20200609 RGD PMID:11485922|REF_RGD_ID:7327201 12155460 ATF3 activating transcription factor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12155460 ATF3 activating transcription factor 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12155481 LDLR low density lipoprotein receptor gene DOID:0050990 episodic ataxia type 2 ISO RGD:735594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12155481 LDLR low density lipoprotein receptor gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:735594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12155481 LDLR low density lipoprotein receptor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:735594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20938947|PMID:23127599|PMID:23285030 12155481 LDLR low density lipoprotein receptor gene DOID:0080600 COVID-19 ISO RGD:735594 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12155481 LDLR low density lipoprotein receptor gene DOID:0080685 aortic dissection ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic dissection PMID:10782930|PMID:10978268|PMID:12837857|PMID:1301956|PMID:16183066|PMID:16250003|PMID:17094996|PMID:17765246|PMID:18677035|PMID:19318025|PMID:20506408|PMID:2088165|PMID:21310417|PMID:21475731|PMID:21722902|PMID:22390909|PMID:22698793|PMID:2318961|PMID:23375686|PMID:24033266|PMID:25741868|PMID:27765764|PMID:28492532|PMID:29261184|PMID:29399563|PMID:31345425|PMID:3263645|PMID:8882879|PMID:9157944|PMID:9484998 12155481 LDLR low density lipoprotein receptor gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:735594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12155481 LDLR low density lipoprotein receptor gene DOID:0111254 glutaric acidemia I ISO RGD:735594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12155481 LDLR low density lipoprotein receptor gene DOID:10230 aortic atherosclerosis ISO RGD:2998 D RGD:9068941 20211112 RGD PMID:29459263|REF_RGD_ID:13703129 12155481 LDLR low density lipoprotein receptor gene DOID:10652 Alzheimer's disease ISO RGD:10864 D RGD:9068941 20200609 RGD PMID:21755005|REF_RGD_ID:5490231 12155481 LDLR low density lipoprotein receptor gene DOID:10652 Alzheimer's disease ISO RGD:735594 D RGD:9068941 20200609 RGD DNA:SNPs: :rs5925, rs2738444, rs11669576 (human) PMID:17239995|REF_RGD_ID:5490239 12155481 LDLR low density lipoprotein receptor gene DOID:10652 Alzheimer's disease ISO RGD:735594 D RGD:9068941 20200609 RGD DNA:SNPs:exon (human) PMID:15689450|REF_RGD_ID:5490242 12155481 LDLR low density lipoprotein receptor gene DOID:10652 Alzheimer's disease ISO RGD:735594 D RGD:9068941 20200609 RGD DNA:SNPs:exon:rs5925, rs5927, rs5930 (human) PMID:15585340|REF_RGD_ID:5490244 12155481 LDLR low density lipoprotein receptor gene DOID:10652 Alzheimer's disease no_association ISO RGD:735594 D RGD:9068941 20200609 RGD DNA:SNPs:exon:rs5925, rs5927, rs5930 (human) PMID:16378661|REF_RGD_ID:5490243 12155481 LDLR low density lipoprotein receptor gene DOID:10652 Alzheimer's disease no_association ISO RGD:735594 D RGD:9068941 20200609 RGD DNA:SNPs:exon:rs5925, rs5930, rs11669576 (human) PMID:16741934|REF_RGD_ID:5490241 12155481 LDLR low density lipoprotein receptor gene DOID:11100 Q fever ISO RGD:735594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16469060 12155481 LDLR low density lipoprotein receptor gene DOID:1168 familial hyperlipidemia ISO RGD:2998 D RGD:9068941 20211112 RGD PMID:29459263|REF_RGD_ID:13703129 12155481 LDLR low density lipoprotein receptor gene DOID:1168 familial hyperlipidemia ISO RGD:735594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11947894|PMID:25619500 12155481 LDLR low density lipoprotein receptor gene DOID:12783 migraine without aura ISO RGD:735594 D RGD:9068941 20200609 RGD DNA:repeat:exon (human) PMID:12873747|REF_RGD_ID:5490245 12155481 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:7240710 20180130 OMIM 12155481 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20809525|PMID:20828696|PMID:2088165|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21418584|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22220933|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22544571|PMID:22683370|PMID:22691586|PMID:22698793|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23669246|PMID:23680767|PMID:23815734|PMID:23820649|PMID:23833242|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24671153|PMID:24722143|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26361156|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27206935|PMID:27247956|PMID:2726768|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578127|PMID:27578128|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:2831865|PMID:28349240|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:2920733|PMID:29233637|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29874871|PMID:2988123|PMID:29974534|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527 12155481 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270359|PMID:30293936|PMID:30312929|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31345425|PMID:31371270|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31617323|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31947532|PMID:31980526|PMID:3198114|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32113782|PMID:32143996|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32489792|PMID:32522009|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32706999|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33079599|PMID:33087929|PMID:33111339|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33418990|PMID:3343347|PMID:33508743|PMID:33740630|PMID:3391282|PMID:33955087|PMID:33994402|PMID:34037665|PMID:34249980|PMID:3425583|PMID:34297352|PMID:34456200|PMID:3472763|PMID:3475071|PMID:34906454|PMID:34998859|PMID:3549308|PMID:35535697|PMID:3572996|PMID:3627182|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6324732|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426 12155481 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208489|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10412552|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10947889|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11389828|PMID:1139254|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11792717|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12112655|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12673584|PMID:12705331|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1348044|PMID:1352322|PMID:1362925|PMID:1372927|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14616764|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:14756670|PMID:14767901|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15633194|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16286607|PMID:16314194|PMID:16343504|PMID:1634609|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16530458|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:1727071|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17625505|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412 12155481 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22683370|PMID:22691586|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218 12155481 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30332439|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31371270|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34906454|PMID:3494949|PMID:34998859|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:3572996|PMID:35929461|PMID:3627182|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972 12155481 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426 12155481 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208489|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10412552|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10947889|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11389828|PMID:1139254|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11792717|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12673584|PMID:12705331|PMID:12730724|PMID:12820708|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1348044|PMID:1352322|PMID:1362925|PMID:1372927|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14616764|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:14756670|PMID:14767901|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15633194|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16286607|PMID:16314194|PMID:16343504|PMID:1634609|PMID:16389549|PMID:16406299|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16530458|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:1727071|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17625505|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18701038|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025 12155481 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:34970301|PMID:34998859|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:35568682|PMID:3572996|PMID:35929461|PMID:3627182|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6091915 12155481 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426 12155481 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104 12155481 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32165824|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:35568682|PMID:3572996|PMID:35929461|PMID:3627182|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990 12155481 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:4750422|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426 12155481 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25786579|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104 12155481 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:35568682|PMID:35631530|PMID:3572996|PMID:35929461|PMID:36226792|PMID:3627182|PMID:36325061|PMID:36499307 12155481 LDLR low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426 12155481 LDLR low density lipoprotein receptor gene DOID:14692 Smith-Lemli-Opitz syndrome ISO RGD:735594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:10208499|PMID:12730724|PMID:15701167|PMID:17445538|PMID:17694954|PMID:25741868|PMID:28492532 12155481 LDLR low density lipoprotein receptor gene DOID:1883 hepatitis C disease_progression ISO RGD:735594 D RGD:9068941 20200609 RGD DNA:polymorphisms:exon, 3' utr (human) PMID:12209363|REF_RGD_ID:5490246 12155481 LDLR low density lipoprotein receptor gene DOID:1936 atherosclerosis ISO RGD:10864 D RGD:9068941 20200609 RGD PMID:9614153|REF_RGD_ID:5490255 12155481 LDLR low density lipoprotein receptor gene DOID:1936 atherosclerosis ISO RGD:2998 D RGD:9068941 20200609 RGD DNA:mutation:exon:478T > A(rat) PMID:22293196|REF_RGD_ID:12910105 12155481 LDLR low density lipoprotein receptor gene DOID:1936 atherosclerosis ISO RGD:735594 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11947894|PMID:18450471|PMID:22153697|PMID:25619500|PMID:28899902|PMID:34717031|PMID:36108984 12155481 LDLR low density lipoprotein receptor gene DOID:2349 arteriosclerosis ISO RGD:735594 D RGD:9068941 20200609 RGD PMID:12969990|REF_RGD_ID:1581826 12155481 LDLR low density lipoprotein receptor gene DOID:3145 hyperlipoproteinemia type III ISO RGD:735594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia PMID:20809525|PMID:25741868|PMID:28492532|PMID:28645073|PMID:33740630 12155481 LDLR low density lipoprotein receptor gene DOID:3345 xanthomatosis ISO RGD:2998 D RGD:9068941 20200609 RGD DNA:mutation:exon:478T > A(rat) PMID:22293196|REF_RGD_ID:12910105 12155481 LDLR low density lipoprotein receptor gene DOID:3393 coronary artery disease ISO RGD:735594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990|PMID:27135400 12155481 LDLR low density lipoprotein receptor gene DOID:3393 coronary artery disease no_association ISO RGD:735594 D RGD:9068941 20200609 RGD PMID:16459141|REF_RGD_ID:1581823 12155481 LDLR low density lipoprotein receptor gene DOID:3413 alpha-mannosidosis ISO RGD:735594 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12155481 LDLR low density lipoprotein receptor gene DOID:5082 liver cirrhosis ISO RGD:735594 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36108984 12155481 LDLR low density lipoprotein receptor gene DOID:557 kidney disease ISO RGD:10864 D RGD:9068941 20200609 RGD PMID:21795641|REF_RGD_ID:7241070 12155481 LDLR low density lipoprotein receptor gene DOID:630 genetic disease ISO RGD:735594 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11005141|PMID:11238294|PMID:11668640|PMID:11810272|PMID:11845603|PMID:11857755|PMID:11939787|PMID:12436241|PMID:12459547|PMID:1301940|PMID:1301956|PMID:1352322|PMID:15199436|PMID:16205024|PMID:16250003|PMID:16792510|PMID:17094996|PMID:17576681|PMID:19208450|PMID:20236128|PMID:20736250|PMID:2088165|PMID:21310417|PMID:21382890|PMID:21418584|PMID:22698793|PMID:23064986|PMID:2318961|PMID:23680767|PMID:24033266|PMID:24507775|PMID:25487149|PMID:25525159|PMID:25637381|PMID:25682442|PMID:25741868|PMID:26467025|PMID:26795593|PMID:27678436|PMID:27765764|PMID:28492532|PMID:30583242|PMID:31048103|PMID:31345425|PMID:3263645|PMID:34363016|PMID:35047021|PMID:36499307|PMID:4061491|PMID:4061492|PMID:6438436|PMID:9536098|PMID:9664576 12155481 LDLR low density lipoprotein receptor gene DOID:807 carotid artery occlusion ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carotid artery occlusion PMID:10782930|PMID:10978268|PMID:12837857|PMID:1301956|PMID:16183066|PMID:16250003|PMID:17094996|PMID:17765246|PMID:18677035|PMID:19318025|PMID:20506408|PMID:2088165|PMID:21310417|PMID:21475731|PMID:21722902|PMID:22390909|PMID:22698793|PMID:2318961|PMID:23375686|PMID:24033266|PMID:25741868|PMID:27765764|PMID:28492532|PMID:29261184|PMID:29399563|PMID:31345425|PMID:3263645|PMID:8882879|PMID:9157944|PMID:9484998 12155481 LDLR low density lipoprotein receptor gene DOID:9000528 Coronary Disease ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Early-onset coronary artery disease PMID:10422804|PMID:11810272|PMID:11845603|PMID:17765246|PMID:19318025|PMID:20506408|PMID:21382890|PMID:21642693|PMID:22390909|PMID:23375686|PMID:24033266|PMID:25487149|PMID:25647241|PMID:25741868|PMID:28161202|PMID:28492532|PMID:28895539|PMID:29353225|PMID:30971288|PMID:32719484|PMID:33454241|PMID:33740630|PMID:34037665|PMID:35339733|PMID:9712531 12155481 LDLR low density lipoprotein receptor gene DOID:9000808 Hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:10090473|PMID:10090484|PMID:10208479|PMID:10230472|PMID:10422803|PMID:10441197|PMID:10532689|PMID:10559517|PMID:10634824|PMID:10657581|PMID:10704205|PMID:10735632|PMID:10882754|PMID:11005141|PMID:11139254|PMID:11196104|PMID:11317361|PMID:11435110|PMID:11462246|PMID:11600564|PMID:11641914|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11857755|PMID:11939787|PMID:12124988|PMID:12406975|PMID:12436241|PMID:12492446|PMID:12553167|PMID:12730724|PMID:1301940|PMID:1301956|PMID:1352322|PMID:14209286|PMID:14508510|PMID:1453433|PMID:14974088|PMID:15199436|PMID:15241806|PMID:15256764|PMID:15359125|PMID:15523646|PMID:15556094|PMID:15576851|PMID:15701167|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15890894|PMID:16159606|PMID:16199547|PMID:16250003|PMID:16314194|PMID:16389549|PMID:16424354|PMID:16542394|PMID:16627557|PMID:16792510|PMID:17087781|PMID:17094996|PMID:17142622|PMID:17196209|PMID:17335829|PMID:17347910|PMID:1734910|PMID:17539906|PMID:17761685|PMID:17765246|PMID:18096825|PMID:18206115|PMID:18263977|PMID:18325082|PMID:18400033|PMID:18503695|PMID:18718593|PMID:19026292|PMID:19062533|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19446849|PMID:1959928|PMID:19602640|PMID:19717150|PMID:19837725|PMID:19843101|PMID:20018285|PMID:20091938|PMID:20145306|PMID:20236128|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:2088165|PMID:20981092|PMID:21145767|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21418584|PMID:21475731|PMID:21531209|PMID:21722902|PMID:21865347|PMID:21925044|PMID:21935675|PMID:21957200|PMID:21990180|PMID:22294733|PMID:22353362|PMID:22390909|PMID:22487947|PMID:22683370|PMID:22698793|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:22995991|PMID:23054246|PMID:23064986|PMID:23130880|PMID:2318961|PMID:23375686|PMID:23669246|PMID:23680767|PMID:23820649|PMID:23833242|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24373485|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24956927|PMID:25154303|PMID:25333069|PMID:25378237|PMID:25395200|PMID:25437892|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25606447|PMID:25637381|PMID:25647241|PMID:25682026|PMID:25741862|PMID:25741868|PMID:25741872|PMID:25781017|PMID:25936317|PMID:26020417|PMID:26036859|PMID:26238499|PMID:26332594|PMID:26342331|PMID:26361156|PMID:26415676|PMID:26467025|PMID:26723464|PMID:26748104|PMID:26802169|PMID:26892515|PMID:26927322|PMID:27044878|PMID:27050191|PMID:27153395|PMID:27175606|PMID:27206935|PMID:27206941|PMID:27247956|PMID:27497240|PMID:27578104|PMID:27578128|PMID:27596133|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27878139|PMID:27998977|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28161202|PMID:28166811|PMID:28220743|PMID:28391882|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28645073|PMID:28873201|PMID:28965616|PMID:29083407|PMID:29172679|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29292049|PMID:29353225|PMID:29396260|PMID:29502162|PMID:29874871|PMID:29937437|PMID:30019023|PMID:30179711|PMID:3025214|PMID:30270083|PMID:30270091|PMID:30293936|PMID:30312929|PMID:30333156|PMID:30413722|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30710474|PMID:30777337|PMID:30795984|PMID:30971288|PMID:31048103|PMID:31106297|PMID:31213876|PMID:31345425|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:32015373|PMID:32041611|PMID:32163632|PMID:32331935|PMID:32423031|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32719484|PMID:32770674|PMID:32878475|PMID:32892247|PMID:32977124|PMID:33079599|PMID:33087929|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33508743|PMID:33740630|PMID:33854068|PMID:33955087|PMID:33975813|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34167030|PMID:34426522|PMID:34511120|PMID:3475071 12155481 LDLR low density lipoprotein receptor gene DOID:9000808 Hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:34906454|PMID:34906840|PMID:35460704|PMID:35535697|PMID:36226792|PMID:3815525|PMID:4061491|PMID:4061492|PMID:4083361|PMID:6438436|PMID:7548065|PMID:7573037|PMID:7603991|PMID:7616128|PMID:7718019|PMID:7749829|PMID:7820934|PMID:7833932|PMID:7979249|PMID:8295321|PMID:8535447|PMID:8829662|PMID:8911609|PMID:9026534|PMID:9104431|PMID:9237502|PMID:9254862|PMID:9259195|PMID:9409298|PMID:9544745|PMID:9544746|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9698020|PMID:9763532|PMID:9767373|PMID:9974426 12155481 LDLR low density lipoprotein receptor gene DOID:9002221 Hyperplasia ISO RGD:735594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9207284 12155481 LDLR low density lipoprotein receptor gene DOID:9003370 Dyslipidemias ISO RGD:735594 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dyslipidemia 12155481 LDLR low density lipoprotein receptor gene DOID:9004009 Reperfusion Injury ISO RGD:2998 D RGD:9068941 20200609 RGD PMID:17288738|REF_RGD_ID:2324630 12155481 LDLR low density lipoprotein receptor gene DOID:9005106 Animal Toxoplasmosis ISO RGD:10864 D RGD:9068941 20200609 RGD PMID:18316222|REF_RGD_ID:5490254 12155481 LDLR low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:10090473|PMID:10090484|PMID:10208479|PMID:10208489|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10532689|PMID:10559517|PMID:10634824|PMID:10657581|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10978268|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11196104|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11373616|PMID:11381031|PMID:1139254|PMID:11462246|PMID:11491306|PMID:11585102|PMID:11641914|PMID:11668627|PMID:11668640|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11933210|PMID:12113284|PMID:12124988|PMID:12406975|PMID:12417285|PMID:12436241|PMID:12553167|PMID:12730724|PMID:12837857|PMID:1301940|PMID:1301956|PMID:1319734|PMID:1352322|PMID:14209286|PMID:14508510|PMID:14512370|PMID:1453433|PMID:1463746|PMID:1464748|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15100232|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15359125|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15864114|PMID:15936313|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16466730|PMID:16542394|PMID:16627557|PMID:16796766|PMID:17087781|PMID:17094996|PMID:17142622|PMID:17196209|PMID:17335829|PMID:17347910|PMID:1734910|PMID:17406740|PMID:17426749|PMID:17539906|PMID:17576681|PMID:17765246|PMID:17955342|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18503695|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19007590|PMID:19013141|PMID:19026292|PMID:19062533|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19411563|PMID:19446849|PMID:19467224|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:19717150|PMID:1978682|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20045108|PMID:20089850|PMID:20145306|PMID:20236128|PMID:2029498|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:20828696|PMID:2088165|PMID:21145767|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21418584|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21642693|PMID:21722902|PMID:21865347|PMID:21925044|PMID:21935675|PMID:21990180|PMID:220236128|PMID:22095935|PMID:22294733|PMID:22353362|PMID:22390909|PMID:22461740|PMID:22487947|PMID:22698793|PMID:22859806|PMID:22881376|PMID:22883975|PMID:23054246|PMID:23064986|PMID:23155708|PMID:2318961|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23669246|PMID:23680767|PMID:23833242|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24281370|PMID:24373485|PMID:24507775|PMID:24627126|PMID:24956927|PMID:25154303|PMID:25257073|PMID:25282520|PMID:25378237|PMID:25412742|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25637381|PMID:25647241|PMID:2569482|PMID:25741868|PMID:25741871|PMID:25911074|PMID:25921077|PMID:25936317|PMID:25962062|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26238499|PMID:26343872|PMID:26433113|PMID:26467025|PMID:26633542|PMID:26723464|PMID:26748104|PMID:26892515|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27206935|PMID:27247956|PMID:2726768|PMID:27542166|PMID:27578127|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27824480|PMID:27854218|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28169869|PMID:28235710|PMID:28349240|PMID:28379029|PMID:28391882|PMID:28458923|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28958694|PMID:28964736|PMID:28965616|PMID:2901412|PMID:29083407|PMID:2920733|PMID:29233637|PMID:29261184|PMID:29284604|PMID:29353225|PMID:29407885|PMID:29531935|PMID:29874871|PMID:30112042|PMID:3020025|PMID:30241732|PMID:3025214 12155481 LDLR low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:30270055|PMID:30270076|PMID:30293936|PMID:30312929|PMID:30333156|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30710474|PMID:30795984|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31345425|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31727422|PMID:31980526|PMID:3198114|PMID:32015373|PMID:3202825|PMID:32041611|PMID:32143996|PMID:32220565|PMID:32331935|PMID:32522009|PMID:3263645|PMID:32660911|PMID:32719484|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32922439|PMID:32977124|PMID:33087929|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33508743|PMID:33740630|PMID:34037665|PMID:3425583|PMID:3472763|PMID:3815525|PMID:4061492|PMID:6324732|PMID:7489239|PMID:7548065|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7894220|PMID:7903864|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8347689|PMID:8399083|PMID:8535447|PMID:8645371|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9016531|PMID:9026534|PMID:9048913|PMID:9104431|PMID:9157944|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9409298|PMID:9452078|PMID:9452095|PMID:9484998|PMID:9536098|PMID:9544745|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9974426 12155481 LDLR low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:30312929|PMID:30333156|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30710474|PMID:30795984|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31345425|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31727422|PMID:31980526|PMID:3198114|PMID:32015373|PMID:3202825|PMID:32041611|PMID:32143996|PMID:32220565|PMID:32331935|PMID:32522009|PMID:3263645|PMID:32660911|PMID:32719484|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32922439|PMID:32977124|PMID:33087929|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33508743|PMID:33740630|PMID:34037665|PMID:3425583|PMID:3472763|PMID:3815525|PMID:4061492|PMID:6324732|PMID:7489239|PMID:7548065|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7894220|PMID:7903864|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8347689|PMID:8399083|PMID:8535447|PMID:8645371|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9016531|PMID:9026534|PMID:9048913|PMID:9104431|PMID:9157944|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9409298|PMID:9452078|PMID:9452095|PMID:9484998|PMID:9536098|PMID:9544745|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9974426 12155481 LDLR low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208489|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10933493|PMID:10947889|PMID:10978268|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11196104|PMID:11237541|PMID:11257257|PMID:11295843|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:1139254|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11491306|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1319734|PMID:1352322|PMID:14209286|PMID:1438159|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15633194|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:16792510|PMID:16796766|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19007590|PMID:19013141|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053 12155481 LDLR low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26833332|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29720182|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083 12155481 LDLR low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34906454|PMID:3494949|PMID:35339733|PMID:35460704|PMID:35535697|PMID:35568682|PMID:35929461|PMID:3815525|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7548065|PMID:7550239|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426 12155481 LDLR low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:2143996|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26833332|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:30112042 12155481 LDLR low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:35339733|PMID:35460704|PMID:35535697|PMID:35568682|PMID:35929461|PMID:3815525|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426 12155481 LDLR low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:2143996|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:30112042|PMID:30179711|PMID:3020025 12155481 LDLR low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32165824|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:35339733|PMID:35460704|PMID:35535697|PMID:35568682|PMID:35929461|PMID:3815525|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426 12155481 LDLR low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208489|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10933493|PMID:10947889|PMID:10978268|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11196104|PMID:11237541|PMID:11257257|PMID:11295843|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:1139254|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11491306|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1319734|PMID:1352322|PMID:14209286|PMID:1438159|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15633194|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:16792510|PMID:16796766|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19007590|PMID:19013141|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890 12155481 LDLR low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:30112042 12155481 LDLR low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:35339733|PMID:35460704|PMID:35535697|PMID:35568682|PMID:35631530|PMID:35929461|PMID:36226792|PMID:36325061|PMID:3815525|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426 12155481 LDLR low density lipoprotein receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2998 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:18054320|REF_RGD_ID:2324626 12155481 LDLR low density lipoprotein receptor gene DOID:9006599 Hypertriglyceridemia ISO RGD:2998 D RGD:9068941 20200609 RGD PMID:27378433|PMID:28469073|REF_RGD_ID:12910100|REF_RGD_ID:12910104 12155481 LDLR low density lipoprotein receptor gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:10864 D RGD:9068941 20200609 RGD protein:decreased expression: liver (rat) PMID:20028367|REF_RGD_ID:21410185 12155481 LDLR low density lipoprotein receptor gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:2998 D RGD:9068941 20200609 RGD protein:decreased expression: liver (rat) PMID:20028367|REF_RGD_ID:21410185 12155481 LDLR low density lipoprotein receptor gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:735594 D RGD:9068941 20200609 RGD protein:decreased expression: liver (rat) PMID:20028367|REF_RGD_ID:21410185 12155481 LDLR low density lipoprotein receptor gene DOID:9007096 Stroke ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Stroke PMID:10782930|PMID:10978268|PMID:12837857|PMID:1301956|PMID:16183066|PMID:16250003|PMID:17094996|PMID:17765246|PMID:18677035|PMID:19318025|PMID:20506408|PMID:2088165|PMID:21310417|PMID:21475731|PMID:21722902|PMID:22390909|PMID:22698793|PMID:2318961|PMID:23375686|PMID:24033266|PMID:25741868|PMID:27765764|PMID:28492532|PMID:29261184|PMID:29399563|PMID:31345425|PMID:3263645|PMID:8882879|PMID:9157944|PMID:9484998 12155481 LDLR low density lipoprotein receptor gene DOID:9007096 Stroke susceptibility ISO RGD:735594 D RGD:9068941 20200609 RGD DNA:SNPs:introns: (rs2738446, rs2738450) (human) PMID:19589204|REF_RGD_ID:5490232 12155481 LDLR low density lipoprotein receptor gene DOID:9007234 Carotid Artery Dissection, Internal ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Internal carotid artery dissection PMID:10782930|PMID:10978268|PMID:12837857|PMID:1301956|PMID:16183066|PMID:16250003|PMID:17094996|PMID:17765246|PMID:18677035|PMID:19318025|PMID:20506408|PMID:2088165|PMID:21310417|PMID:21475731|PMID:21722902|PMID:22390909|PMID:22698793|PMID:2318961|PMID:23375686|PMID:24033266|PMID:25741868|PMID:27765764|PMID:28492532|PMID:29261184|PMID:29399563|PMID:31345425|PMID:3263645|PMID:8882879|PMID:9157944|PMID:9484998 12155481 LDLR low density lipoprotein receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735594 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36108984 12155481 LDLR low density lipoprotein receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:735594 D RGD:9068941 20200609 RGD mRNA:decreased expression:leukocyte PMID:19811272|REF_RGD_ID:5490253 12155481 LDLR low density lipoprotein receptor gene DOID:9348 carotid artery dissection ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carotid artery dissection PMID:10782930|PMID:10978268|PMID:12837857|PMID:1301956|PMID:16183066|PMID:16250003|PMID:17094996|PMID:17765246|PMID:18677035|PMID:19318025|PMID:20506408|PMID:2088165|PMID:21310417|PMID:21475731|PMID:21722902|PMID:22390909|PMID:22698793|PMID:2318961|PMID:23375686|PMID:24033266|PMID:25741868|PMID:27765764|PMID:28492532|PMID:29261184|PMID:29399563|PMID:31345425|PMID:3263645|PMID:8882879|PMID:9157944|PMID:9484998 12155481 LDLR low density lipoprotein receptor gene DOID:9452 fatty liver disease ISO RGD:10864 D RGD:9068941 20220825 MouseDO OMIM:228100 12155481 LDLR low density lipoprotein receptor gene DOID:9452 fatty liver disease ISO RGD:2998 D RGD:9068941 20211112 RGD PMID:29459263|REF_RGD_ID:13703129 12155481 LDLR low density lipoprotein receptor gene DOID:9452 fatty liver disease ISO RGD:735594 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:25554529|PMID:36108984 12155481 LDLR low density lipoprotein receptor gene DOID:9970 obesity ISO RGD:735594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25554529 12155503 FREY1 Frey regulator of sperm-oocyte fusion 1 gene DOID:0050444 infantile Refsum disease ISO RGD:3543119 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 12155503 FREY1 Frey regulator of sperm-oocyte fusion 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:3543119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12155503 FREY1 Frey regulator of sperm-oocyte fusion 1 gene DOID:1059 intellectual disability ISO RGD:3543119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12155503 FREY1 Frey regulator of sperm-oocyte fusion 1 gene DOID:905 Zellweger syndrome ISO RGD:3543119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 12155511 OR4K1 olfactory receptor family 4 subfamily K member 1 gene DOID:630 genetic disease ISO RGD:1354130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155517 MIR205 microRNA mir-205 gene DOID:1324 lung cancer ISO RGD:1607684 D RGD:9068941 20220715 RGD RNA:increased expression:lung (human) PMID:20237410|REF_RGD_ID:152995484 12155517 MIR205 microRNA mir-205 gene DOID:1540 parathyroid carcinoma ISO RGD:1350430 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12155517 MIR205 microRNA mir-205 gene DOID:1749 squamous cell carcinoma ISO RGD:1350430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21563230 12155517 MIR205 microRNA mir-205 gene DOID:2671 transitional cell carcinoma ISO RGD:1350430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25586904 12155517 MIR205 microRNA mir-205 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21563230 12155517 MIR205 microRNA mir-205 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1350430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24447120 12155517 MIR205 microRNA mir-205 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 12155517 MIR205 microRNA mir-205 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1350430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22048643 12155517 MIR205 microRNA mir-205 gene DOID:9008939 Breast Neoplasms ISO RGD:1350430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 12155517 MIR205 microRNA mir-205 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350430 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12155517 MIR205 microRNA mir-205 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12155526 KRTAP25-1 keratin associated protein 25-1 gene DOID:630 genetic disease ISO RGD:2293249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155537 INF2 inverted formin 2 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1343033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12155537 INF2 inverted formin 2 gene DOID:0110205 Charcot-Marie-Tooth disease dominant intermediate E ISO RGD:1343033 D RGD:7240710 20210114 OMIM 12155537 INF2 inverted formin 2 gene DOID:0110205 Charcot-Marie-Tooth disease dominant intermediate E ISO RGD:1343033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY WITH FOCAL SEGMENTAL GLOMERULONEPHRITIS | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate E PMID:20023659|PMID:20803156|PMID:21258034|PMID:21866090|PMID:22187985|PMID:22961558|PMID:23014460|PMID:23515051|PMID:25165188|PMID:25407002|PMID:25741868|PMID:26467025|PMID:26764407|PMID:27350175|PMID:27549087|PMID:28492532|PMID:29653220|PMID:30126379|PMID:30373780|PMID:30406062|PMID:30680856|PMID:30773290|PMID:31937884|PMID:32451589|PMID:32604935|PMID:6054293 12155537 INF2 inverted formin 2 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1343033 D RGD:7240710 20210114 OMIM 12155537 INF2 inverted formin 2 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1343033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:17576681|PMID:20023659|PMID:20803156|PMID:21258034|PMID:21415313|PMID:21866090|PMID:21998196|PMID:22187985|PMID:22961558|PMID:23014460|PMID:23349334|PMID:23515051|PMID:24174593|PMID:24750328|PMID:25165188|PMID:25407002|PMID:25676889|PMID:25741868|PMID:25741869|PMID:25943269|PMID:26086034|PMID:26248470|PMID:26467025|PMID:26467726|PMID:26764407|PMID:27350175|PMID:27549087|PMID:28166811|PMID:28492532|PMID:28780565|PMID:29653220|PMID:30126379|PMID:30373780|PMID:30406062|PMID:30680856|PMID:30773290|PMID:31515790|PMID:31937884|PMID:32451589|PMID:32604935|PMID:33712733|PMID:6054293|PMID:9536098 12155537 INF2 inverted formin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1343033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:20023659|PMID:20803156|PMID:21258034|PMID:22187985|PMID:22961558|PMID:23014460|PMID:23515051|PMID:23521651|PMID:24174593|PMID:24750328|PMID:25165188|PMID:25407002|PMID:25676889|PMID:25741868|PMID:25943269|PMID:26086034|PMID:26467025|PMID:26467726|PMID:26764407|PMID:27350175|PMID:28492532|PMID:28780565|PMID:31515790|PMID:31937884|PMID:32451589|PMID:32604935 12155537 INF2 inverted formin 2 gene DOID:1184 nephrotic syndrome ISO RGD:1343033 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:28492532|PMID:29127259 12155537 INF2 inverted formin 2 gene DOID:12215 oligohydramnios ISO RGD:1343033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligohydramnios PMID:25741868 12155537 INF2 inverted formin 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1343033 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:21866090|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30655312|PMID:32451589 12155537 INF2 inverted formin 2 gene DOID:2921 glomerulonephritis ISO RGD:1343033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glomerulonephritis PMID:25741868|PMID:28492532 12155537 INF2 inverted formin 2 gene DOID:557 kidney disease ISO RGD:1343033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:20023659|PMID:21866090|PMID:25165188|PMID:25741868|PMID:26467025|PMID:26764407|PMID:28492532|PMID:30126379|PMID:30406062|PMID:30773290 12155537 INF2 inverted formin 2 gene DOID:576 proteinuria ISO RGD:1343033 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:20023659|PMID:20803156|PMID:21258034|PMID:23014460|PMID:23515051|PMID:25165188|PMID:25407002|PMID:25741868|PMID:26467025|PMID:27350175|PMID:28492532|PMID:31937884|PMID:32604935 12155537 INF2 inverted formin 2 gene DOID:630 genetic disease ISO RGD:1343033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:21998196|PMID:22187985|PMID:22961558|PMID:23349334|PMID:23515051|PMID:25407002|PMID:25741868|PMID:26248470|PMID:26467025|PMID:27549087|PMID:28166811|PMID:28492532|PMID:30126379|PMID:30680856|PMID:33712733|PMID:9536098 12155537 INF2 inverted formin 2 gene DOID:784 chronic kidney disease ISO RGD:1343033 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 12155577 CISD2 CDGSH iron sulfur domain 2 gene DOID:0110630 Wolfram syndrome 2 ISO RGD:1603794 D RGD:7240710 20180130 OMIM 12155577 CISD2 CDGSH iron sulfur domain 2 gene DOID:0110630 Wolfram syndrome 2 ISO RGD:1603794 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolfram syndrome 2 PMID:10739754|PMID:17576681|PMID:17846994|PMID:25056293|PMID:25371195|PMID:25741868|PMID:28492532|PMID:29237418|PMID:9536098 12155577 CISD2 CDGSH iron sulfur domain 2 gene DOID:3633 beta-mannosidosis ISO RGD:1603794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 12155577 CISD2 CDGSH iron sulfur domain 2 gene DOID:630 genetic disease ISO RGD:1603794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155577 CISD2 CDGSH iron sulfur domain 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603794 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 12155613 KIAA0040 KIAA0040 gene DOID:1540 parathyroid carcinoma ISO RGD:2290033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12155613 KIAA0040 KIAA0040 gene DOID:3755 antithrombin III deficiency ISO RGD:2290033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 12155613 KIAA0040 KIAA0040 gene DOID:630 genetic disease ISO RGD:2290033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155613 KIAA0040 KIAA0040 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:2290033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 12155613 KIAA0040 KIAA0040 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:2290033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12155626 MCM6 minichromosome maintenance complex component 6 gene DOID:0060591 WHIM syndrome 1 ISO RGD:1352854 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 12155626 MCM6 minichromosome maintenance complex component 6 gene DOID:630 genetic disease ISO RGD:1352854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155626 MCM6 minichromosome maintenance complex component 6 gene DOID:9006147 Lactose Intolerance, Adult Type ISO RGD:1352854 D RGD:7240710 20180130 OMIM 12155626 MCM6 minichromosome maintenance complex component 6 gene DOID:9006147 Lactose Intolerance, Adult Type ISO RGD:1352854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ADULT LACTASE DEFICIENCY | ClinVar Annotator: match by term: Lactose intolerance, adult type PMID:25741868 12155657 EARS2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1604541 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:28492532 12155657 EARS2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1604541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 12155657 EARS2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1604541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28492532|PMID:31680123 12155657 EARS2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0111493 combined oxidative phosphorylation deficiency 12 ISO RGD:1604541 D RGD:7240710 20180130 OMIM 12155657 EARS2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0111493 combined oxidative phosphorylation deficiency 12 ISO RGD:1604541 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome PMID:22492562|PMID:23008233|PMID:24706556|PMID:25741868|PMID:26741492|PMID:26780086|PMID:26893310|PMID:27117034|PMID:27290639|PMID:28492532|PMID:28748214|PMID:28748215|PMID:28973083|PMID:31520968|PMID:31665838|PMID:32887222|PMID:33128823|PMID:33258288|PMID:33855712|PMID:33962821|PMID:34440436 12155657 EARS2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1604541 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22492562|PMID:25741868|PMID:26780086|PMID:26893310|PMID:28492532|PMID:28748214|PMID:28748215|PMID:31520968|PMID:33128823 12155657 EARS2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:9008086 Developmental Disabilities ISO RGD:1604541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22492562|PMID:25741868|PMID:26893310|PMID:28492532 12155674 HTR6 5-hydroxytryptamine receptor 6 gene DOID:0060369 Parkinson's disease 6 ISO RGD:733226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12155674 HTR6 5-hydroxytryptamine receptor 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:733226 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12155674 HTR6 5-hydroxytryptamine receptor 6 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:733226 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12155674 HTR6 5-hydroxytryptamine receptor 6 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:733226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12155674 HTR6 5-hydroxytryptamine receptor 6 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:733226 D RGD:9068941 20200806 RGD DNA:silent mutation:cds: 267C>T (human) PMID:10624811|REF_RGD_ID:1358662 12155674 HTR6 5-hydroxytryptamine receptor 6 gene DOID:5419 schizophrenia ISO RGD:733226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12165372 12155674 HTR6 5-hydroxytryptamine receptor 6 gene DOID:630 genetic disease ISO RGD:733226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155674 HTR6 5-hydroxytryptamine receptor 6 gene DOID:670 amphetamine abuse ISO RGD:733226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20705401 12155674 HTR6 5-hydroxytryptamine receptor 6 gene DOID:8646 substance-induced psychosis ISO RGD:733226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20705401 12155674 HTR6 5-hydroxytryptamine receptor 6 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:733226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12155674 HTR6 5-hydroxytryptamine receptor 6 gene DOID:9008023 Memory Disorders ISO RGD:733226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19733250 12155680 PAQR3 progestin and adipoQ receptor family member 3 gene DOID:630 genetic disease ISO RGD:1321322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155680 PAQR3 progestin and adipoQ receptor family member 3 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1321322 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12155691 AQP8 aquaporin 8 gene DOID:2316 brain ischemia ISO RGD:2146 D RGD:9068941 20200609 RGD PMID:19616516|REF_RGD_ID:5490152 12155691 AQP8 aquaporin 8 gene DOID:630 genetic disease ISO RGD:737411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155717 COX7A1 cytochrome c oxidase subunit 7A1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1348243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12155717 COX7A1 cytochrome c oxidase subunit 7A1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1348243 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12155717 COX7A1 cytochrome c oxidase subunit 7A1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1615204 D RGD:9068941 20220825 MouseDO 12155717 COX7A1 cytochrome c oxidase subunit 7A1 gene DOID:630 genetic disease ISO RGD:1348243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155731 MIR193A microRNA mir-193a gene DOID:10591 pre-eclampsia ISO RGD:1350382 D RGD:9068941 20230128 RGD miRNA:increased expression:blood serum (human) PMID:25017274|REF_RGD_ID:155882496 12155731 MIR193A microRNA mir-193a gene DOID:11294 arteriovenous malformation ISO RGD:1350382 D RGD:9068941 20221013 RGD miRNA:decreased expression:blood plasma (human) PMID:23051042|REF_RGD_ID:155582214 12155731 MIR193A microRNA mir-193a gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1608303 D RGD:9068941 20220825 MouseDO OMIM:607832 | OMIM:612551 12155731 MIR193A microRNA mir-193a gene DOID:1324 lung cancer ISO RGD:1350382 D RGD:9068941 20220901 RGD DNA:hypermethylation PMID:27669434|REF_RGD_ID:153344606 12155731 MIR193A microRNA mir-193a gene DOID:1324 lung cancer ameliorates ISO RGD:1350382 D RGD:9068941 20220901 RGD human cells in mouse model PMID:27821145|PMID:29183007|REF_RGD_ID:153344578|REF_RGD_ID:153344580 12155731 MIR193A microRNA mir-193a gene DOID:1324 lung cancer treatment ISO RGD:1608303 D RGD:9068941 20220901 RGD PMID:35289739|REF_RGD_ID:153344587 12155731 MIR193A microRNA mir-193a gene DOID:1969 cerebral palsy ISO RGD:1350382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12155731 MIR193A microRNA mir-193a gene DOID:219 colon cancer ameliorates ISO RGD:1350382 D RGD:9068941 20220825 RGD human cells in mouse model PMID:28211508|REF_RGD_ID:153344546 12155731 MIR193A microRNA mir-193a gene DOID:219 colon cancer exacerbates ISO RGD:1350382 D RGD:9068941 20220901 RGD human cells in mouse model PMID:30575330|REF_RGD_ID:153344588 12155731 MIR193A microRNA mir-193a gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:1350382 D RGD:9068941 20220818 RGD miRNA:decreased expression:esophagus (human) PMID:27203740|REF_RGD_ID:153323341 12155731 MIR193A microRNA mir-193a gene DOID:3770 pulmonary fibrosis ISO RGD:1350382 D RGD:9068941 20210212 CTD CTD Direct Evidence: therapeutic PMID:30744607 12155731 MIR193A microRNA mir-193a gene DOID:3907 lung squamous cell carcinoma exacerbates ISO RGD:1350382 D RGD:9068941 20220901 RGD DNA:Hypermethylation PMID:22282464|REF_RGD_ID:153344598 12155731 MIR193A microRNA mir-193a gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350382 D RGD:9068941 20220901 RGD miRNA:decreased expression:lung (human) PMID:26655272|REF_RGD_ID:11085320 12155731 MIR193A microRNA mir-193a gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1350382 D RGD:9068941 20220901 RGD human cells in mouse model PMID:31205511|REF_RGD_ID:153344584 12155731 MIR193A microRNA mir-193a gene DOID:5082 liver cirrhosis ISO RGD:1350382 D RGD:9068941 20220826 RGD associated with hepatocellular carcinoma; RNA:decreased expression:liver (human) PMID:24330766|REF_RGD_ID:153344567 12155731 MIR193A microRNA mir-193a gene DOID:684 hepatocellular carcinoma ISO RGD:1350382 D RGD:9068941 20220825 RGD DNA:hypomethylation PMID:28036298|REF_RGD_ID:153344564 12155731 MIR193A microRNA mir-193a gene DOID:684 hepatocellular carcinoma ISO RGD:1350382 D RGD:9068941 20220825 RGD RNA:decreased expression:liver (human) PMID:30710422|REF_RGD_ID:153344549 12155731 MIR193A microRNA mir-193a gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1350382 D RGD:9068941 20220825 RGD miRNA:decreased expression:liver (human) PMID:26263159|REF_RGD_ID:11070076 12155731 MIR193A microRNA mir-193a gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1350382 D RGD:9068941 20220825 RGD RNA:increased expression:blood serum (human) PMID:32960907|REF_RGD_ID:153344563 12155731 MIR193A microRNA mir-193a gene DOID:687 hepatoblastoma exacerbates ISO RGD:1350382 D RGD:9068941 20220825 RGD RNA:decreased expression:liver (human) PMID:31541079|REF_RGD_ID:153344539 12155731 MIR193A microRNA mir-193a gene DOID:7474 malignant pleural mesothelioma ISO RGD:1350382 D RGD:9068941 20220901 RGD miRNA:decreased expression:pleura (human) PMID:26125439|REF_RGD_ID:11529530 12155731 MIR193A microRNA mir-193a gene DOID:9000965 Neoplasm Metastasis exacerbates ISO RGD:1350382 D RGD:9068941 20220825 RGD associated with colorectal cancer; miRNA:decreased expression:colorectum (human) PMID:25232258|REF_RGD_ID:153344566 12155731 MIR193A microRNA mir-193a gene DOID:9000965 Neoplasm Metastasis exacerbates ISO RGD:1350382 D RGD:9068941 20220901 RGD associated with lung non-small cell carcinoma; human cells in mouse model PMID:24469061|PMID:30685413|REF_RGD_ID:153344592|REF_RGD_ID:153344599 12155731 MIR193A microRNA mir-193a gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1608303 D RGD:9068941 20220818 RGD miRNA:decreased expression:liver (mouse) PMID:30165047|REF_RGD_ID:153323340 12155731 MIR193A microRNA mir-193a gene DOID:9005172 Lung Neoplasms ISO RGD:1350382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12155731 MIR193A microRNA mir-193a gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12155731 MIR193A microRNA mir-193a gene DOID:9007787 Carcinoid Tumor ISO RGD:1350382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12155731 MIR193A microRNA mir-193a gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1350382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12155731 MIR193A microRNA mir-193a gene DOID:9008086 Developmental Disabilities ISO RGD:1350382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 12155731 MIR193A microRNA mir-193a gene DOID:9256 colorectal cancer ISO RGD:1350382 D RGD:9068941 20220721 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12155731 MIR193A microRNA mir-193a gene DOID:9256 colorectal cancer disease_progression ISO RGD:1350382 D RGD:9068941 20220825 RGD RNA:increased expression:colorectum, blood (human) PMID:23758639|REF_RGD_ID:153344558 12155731 MIR193A microRNA mir-193a gene DOID:9256 colorectal cancer treatment ISO RGD:1350382 D RGD:9068941 20220825 RGD human cells in mouse model PMID:34299137|REF_RGD_ID:153344551 12155751 CDO1 cysteine dioxygenase type 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:737394 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12155751 CDO1 cysteine dioxygenase type 1 gene DOID:10763 hypertension ISO RGD:69262 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:6726227|REF_RGD_ID:2301363 12155751 CDO1 cysteine dioxygenase type 1 gene DOID:12849 autistic disorder ISO RGD:737394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12155751 CDO1 cysteine dioxygenase type 1 gene DOID:630 genetic disease ISO RGD:737394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155751 CDO1 cysteine dioxygenase type 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 12155751 CDO1 cysteine dioxygenase type 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12155751 CDO1 cysteine dioxygenase type 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737394 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12155751 CDO1 cysteine dioxygenase type 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23665415 12155751 CDO1 cysteine dioxygenase type 1 gene DOID:9970 obesity ISO RGD:737395 D RGD:9068941 20200609 RGD PMID:16627576|REF_RGD_ID:2301355 12155760 PAF1 PAF1 homolog, Paf1/RNA polymerase II complex component gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1607027 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12155760 PAF1 PAF1 homolog, Paf1/RNA polymerase II complex component gene DOID:630 genetic disease ISO RGD:1607027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155760 PAF1 PAF1 homolog, Paf1/RNA polymerase II complex component gene DOID:9352 type 2 diabetes mellitus ISO RGD:1607027 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12155778 RFX2 regulatory factor X2 gene DOID:0050591 tooth agenesis ISO RGD:1343231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tooth agenesis 12155778 RFX2 regulatory factor X2 gene DOID:630 genetic disease ISO RGD:1343231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155807 RRM1 ribonucleotide reductase catalytic subunit M1 gene DOID:0080074 neural tube defect ISO RGD:737409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10716750 12155807 RRM1 ribonucleotide reductase catalytic subunit M1 gene DOID:0080773 delta beta-thalassemia ISO RGD:737409 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12155807 RRM1 ribonucleotide reductase catalytic subunit M1 gene DOID:11832 visual epilepsy ISO RGD:1592569 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus (rat) PMID:15725396|REF_RGD_ID:5133692 12155807 RRM1 ribonucleotide reductase catalytic subunit M1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:737409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21496433 12155807 RRM1 ribonucleotide reductase catalytic subunit M1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:737409 D RGD:9068941 20210604 RGD PMID:19002265|REF_RGD_ID:127229933 12155807 RRM1 ribonucleotide reductase catalytic subunit M1 gene DOID:3910 lung adenocarcinoma ISO RGD:737409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12155807 RRM1 ribonucleotide reductase catalytic subunit M1 gene DOID:3948 adrenocortical carcinoma ISO RGD:737409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22547773 12155807 RRM1 ribonucleotide reductase catalytic subunit M1 gene DOID:630 genetic disease ISO RGD:737409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155807 RRM1 ribonucleotide reductase catalytic subunit M1 gene DOID:684 hepatocellular carcinoma ISO RGD:737409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18230555 12155807 RRM1 ribonucleotide reductase catalytic subunit M1 gene DOID:9000918 Disease Progression ISO RGD:737409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21496433 12155807 RRM1 ribonucleotide reductase catalytic subunit M1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1592569 D RGD:9068941 20200609 RGD PMID:15224347|REF_RGD_ID:2316863 12155807 RRM1 ribonucleotide reductase catalytic subunit M1 gene DOID:9006205 Animal Disease Models ISO RGD:737409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12155830 TMOD2 tropomodulin 2 gene DOID:0080445 developmental and epileptic encephalopathy 13 ISO RGD:1351754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 12155830 TMOD2 tropomodulin 2 gene DOID:2717 Bloom syndrome ISO RGD:1351754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12155830 TMOD2 tropomodulin 2 gene DOID:607 paraplegia ISO RGD:1351754 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 12155830 TMOD2 tropomodulin 2 gene DOID:630 genetic disease ISO RGD:1351754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155830 TMOD2 tropomodulin 2 gene DOID:9256 colorectal cancer ISO RGD:1351754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:1312254 D RGD:9068941 20210917 RGD PMID:29945346|REF_RGD_ID:150429700 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:0080027 spondyloepimetaphyseal dysplasia ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type ISO RGD:1312254 D RGD:7240710 20180130 OMIM 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome PMID:19110212|PMID:20223752|PMID:25741868|PMID:28492532|PMID:29904280|PMID:8434618|PMID:8818447 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:10534 stomach cancer ameliorates ISO RGD:1312254 D RGD:9068941 20210917 RGD PMID:26934957|REF_RGD_ID:150429705 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:10534 stomach cancer disease_progression ISO RGD:1312254 D RGD:9068941 20210917 RGD PMID:26934957|REF_RGD_ID:150429705 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:10534 stomach cancer exacerbates ISO RGD:1312254 D RGD:9068941 20210917 RGD PMID:27010547|REF_RGD_ID:150429704 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:10534 stomach cancer severity ISO RGD:1312254 D RGD:9068941 20210917 RGD PMID:27010547|REF_RGD_ID:150429704 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:14018 alcoholic liver cirrhosis ameliorates ISO RGD:619855 D RGD:9068941 20211015 RGD PMID:23409069|REF_RGD_ID:150517731 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:14018 alcoholic liver cirrhosis disease_progression ISO RGD:619855 D RGD:9068941 20211001 RGD PMID:21199726|REF_RGD_ID:150429766 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:14330 Parkinson's disease treatment ISO RGD:1312255 D RGD:9068941 20220121 RGD PMID:28863860|REF_RGD_ID:150519888 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:18938156|PMID:22328973|PMID:23932362 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:1909 melanoma ameliorates ISO RGD:1312255 D RGD:9068941 20210924 RGD DNA:deletion:exons: PMID:24293323|REF_RGD_ID:150429711 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:3355 fibrosarcoma ameliorates ISO RGD:1312255 D RGD:9068941 20210924 RGD DNA:deletion:exons: PMID:24293323|REF_RGD_ID:150429711 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:3500 gallbladder adenocarcinoma disease_progression ISO RGD:1312254 D RGD:9068941 20210924 RGD PMID:29043607|REF_RGD_ID:150429712 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:22328973|PMID:25741868|PMID:28492532 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:3907 lung squamous cell carcinoma severity ISO RGD:1312254 D RGD:9068941 20210917 RGD PMID:24885564|REF_RGD_ID:150429702 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:18938156|PMID:22328973|PMID:23932362|PMID:28492532 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1312254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:5520 head and neck squamous cell carcinoma severity ISO RGD:1312254 D RGD:9068941 20210924 RGD PMID:24556606|REF_RGD_ID:150429746 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:5627 adenosquamous gallbladder carcinoma disease_progression ISO RGD:1312254 D RGD:9068941 20210924 RGD PMID:29043607|REF_RGD_ID:150429712 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:630 genetic disease ISO RGD:1312254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:65 connective tissue disease ISO RGD:1312254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1312254 D RGD:9068941 20210924 RGD PMID:26362312|REF_RGD_ID:11086753 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1312254 D RGD:9068941 20210924 RGD PMID:33969575|REF_RGD_ID:150429748 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:686 liver carcinoma ameliorates ISO RGD:1312255 D RGD:9068941 20210924 RGD DNA:deletion:exons: PMID:24293323|REF_RGD_ID:150429711 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:8398 osteoarthritis disease_progression ISO RGD:1312254 D RGD:9068941 20211008 RGD PMID:24938620|REF_RGD_ID:150429973 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1312254 D RGD:9068941 20210917 RGD associated with oral squamous cell carcinoma PMID:29945346|REF_RGD_ID:150429700 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:9000662 Warburg-Cinotti Syndrome ISO RGD:1312254 D RGD:7240710 20200226 OMIM 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:9000662 Warburg-Cinotti Syndrome ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Warburg-cinotti syndrome PMID:17103436|PMID:23637089|PMID:25741868|PMID:28492532|PMID:30449416 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1312255 D RGD:9068941 20210924 RGD associated with melanoma; PMID:24293323|REF_RGD_ID:150429711 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1312254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29216386 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:9002331 Knee Osteoarthritis ameliorates ISO RGD:619855 D RGD:9068941 20211015 RGD PMID:31258642|REF_RGD_ID:150519887 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:9002457 Experimental Arthritis ameliorates ISO RGD:1312255 D RGD:9068941 20211015 RGD PMID:24819400|REF_RGD_ID:150519886 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:9004332 Osteoarthritis, Experimental treatment ISO RGD:619855 D RGD:9068941 20211008 RGD PMID:25975052|REF_RGD_ID:150429975 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:1312254 D RGD:9068941 20210924 RGD associated with melanoma; PMID:21701781|REF_RGD_ID:150429713 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:1312255 D RGD:9068941 20210917 RGD associated with colon carcinoma PMID:22071959|REF_RGD_ID:150429701 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:9009121 lung metastasis exacerbates ISO RGD:1312254 D RGD:9068941 20210924 RGD associated with tongue squamous cell carcinoma; PMID:24556606|REF_RGD_ID:150429746 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1312254 D RGD:9068941 20210917 RGD PMID:28476831|REF_RGD_ID:150429706 12155844 DDR2 discoidin domain receptor tyrosine kinase 2 gene DOID:9261 nasopharynx carcinoma ISO RGD:1312254 D RGD:9068941 20210924 RGD mRNA:increased expression:epithelium of nasopharynx PMID:18023033|REF_RGD_ID:150429715 12155879 C9H9orf78 chromosome 9 C9orf78 homolog gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1313051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12155892 FMR1NB FMR1 neighbor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12155892 FMR1NB FMR1 neighbor gene DOID:12849 autistic disorder ISO RGD:1346520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12155892 FMR1NB FMR1 neighbor gene DOID:630 genetic disease ISO RGD:1346520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155902 CUL7 cullin 7 gene DOID:0050444 infantile Refsum disease ISO RGD:1314380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12155902 CUL7 cullin 7 gene DOID:0060241 3-M syndrome ISO RGD:1314380 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3-M syndrome | ClinVar Annotator: match by term: Yakut short stature syndrome PMID:16142236|PMID:17675530|PMID:19225462|PMID:21396581|PMID:21548126|PMID:23018678|PMID:23900270|PMID:24793695|PMID:24793696|PMID:25741868|PMID:28492532|PMID:28969986|PMID:31343991|PMID:31589614|PMID:34006472 12155902 CUL7 cullin 7 gene DOID:12849 autistic disorder ISO RGD:1314380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25961944 12155902 CUL7 cullin 7 gene DOID:4450 renal cell carcinoma ISO RGD:1314380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 12155902 CUL7 cullin 7 gene DOID:630 genetic disease ISO RGD:1314380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16142236|PMID:16199547|PMID:17675530|PMID:19225462|PMID:21396581|PMID:25741868|PMID:28492532 12155902 CUL7 cullin 7 gene DOID:9005349 Three M Syndrome 1 ISO RGD:1314380 D RGD:7240710 20190327 OMIM 12155902 CUL7 cullin 7 gene DOID:9005349 Three M Syndrome 1 ISO RGD:1314380 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3M syndrome 1 PMID:16142236|PMID:17675530|PMID:19225462|PMID:21383554|PMID:21396581|PMID:22325252|PMID:23018678|PMID:23900270|PMID:24793695|PMID:24793696|PMID:25741868|PMID:27182040|PMID:28492532|PMID:28969986|PMID:30980518|PMID:31343991|PMID:31589614|PMID:34006472 12155902 CUL7 cullin 7 gene DOID:9007661 Dwarfism ISO RGD:1314380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:28492532 12155902 CUL7 cullin 7 gene DOID:905 Zellweger syndrome ISO RGD:1314380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12155934 PDLIM3 PDZ and LIM domain 3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:733817 D RGD:9068941 20220825 MouseDO 12155934 PDLIM3 PDZ and LIM domain 3 gene DOID:0050700 cardiomyopathy ISO RGD:1351346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 12155934 PDLIM3 PDZ and LIM domain 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1351346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 12155934 PDLIM3 PDZ and LIM domain 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1351346 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17254821|PMID:24033266|PMID:25741868|PMID:28492532 12155934 PDLIM3 PDZ and LIM domain 3 gene DOID:12849 autistic disorder ISO RGD:1351346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12155934 PDLIM3 PDZ and LIM domain 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:9536098 12155934 PDLIM3 PDZ and LIM domain 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:31983221|PMID:9536098 12155934 PDLIM3 PDZ and LIM domain 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351346 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:31983221|PMID:32746448|PMID:9536098 12155934 PDLIM3 PDZ and LIM domain 3 gene DOID:397 restrictive cardiomyopathy ISO RGD:1351346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:25741868 12155934 PDLIM3 PDZ and LIM domain 3 gene DOID:630 genetic disease ISO RGD:1351346 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12155934 PDLIM3 PDZ and LIM domain 3 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1351346 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 12155951 DUSP11 dual specificity phosphatase 11 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1315996 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12155951 DUSP11 dual specificity phosphatase 11 gene DOID:543 dystonia ISO RGD:1315996 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12155951 DUSP11 dual specificity phosphatase 11 gene DOID:630 genetic disease ISO RGD:1315996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155951 DUSP11 dual specificity phosphatase 11 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1315996 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12155964 ZC3H12D zinc finger CCCH-type containing 12D gene DOID:630 genetic disease ISO RGD:1345806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12155964 ZC3H12D zinc finger CCCH-type containing 12D gene DOID:684 hepatocellular carcinoma ISO RGD:1345806 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34545456 12155978 TCF3 transcription factor 3 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1351290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 12155978 TCF3 transcription factor 3 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1351290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19246562 12155978 TCF3 transcription factor 3 gene DOID:0081140 agammaglobulinemia 8A ISO RGD:1351290 D RGD:7240710 20220831 OMIM 12155978 TCF3 transcription factor 3 gene DOID:0081140 agammaglobulinemia 8A ISO RGD:1351290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 8, autosomal dominant PMID:17576681|PMID:21693761|PMID:24216514|PMID:25741868|PMID:28492532|PMID:33905048|PMID:9536098 12155978 TCF3 transcription factor 3 gene DOID:0081143 agammaglobulinemia 8B ISO RGD:1351290 D RGD:7240710 20220831 OMIM 12155978 TCF3 transcription factor 3 gene DOID:0081143 agammaglobulinemia 8B ISO RGD:1351290 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 8b, autosomal recessive PMID:28532655|PMID:30063982 12155978 TCF3 transcription factor 3 gene DOID:0111152 multicentric Castleman disease ISO RGD:1351290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TAFRO syndrome 12155978 TCF3 transcription factor 3 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1351290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12155978 TCF3 transcription factor 3 gene DOID:10283 prostate cancer severity ISO RGD:1351290 D RGD:9068941 20200609 RGD PMID:22564737|REF_RGD_ID:13506819 12155978 TCF3 transcription factor 3 gene DOID:2226 myeloproliferative neoplasm ISO RGD:1351290 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable PMID:28492532|PMID:35101336 12155978 TCF3 transcription factor 3 gene DOID:2583 agammaglobulinemia ISO RGD:1351290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12155978 TCF3 transcription factor 3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1351290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12155978 TCF3 transcription factor 3 gene DOID:630 genetic disease ISO RGD:1351290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21693761|PMID:24216514|PMID:25741868|PMID:28492532|PMID:33905048 12155978 TCF3 transcription factor 3 gene DOID:8584 Burkitt lymphoma ISO RGD:1351290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17244677|PMID:1967982 12155978 TCF3 transcription factor 3 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1351290 D RGD:9068941 20200609 RGD associated with colon cancer PMID:26212009|REF_RGD_ID:11533019 12155978 TCF3 transcription factor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12155978 TCF3 transcription factor 3 gene DOID:9256 colorectal cancer ISO RGD:1351290 D RGD:9068941 20200609 RGD PMID:19828471|REF_RGD_ID:13432061 12155978 TCF3 transcription factor 3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1351290 D RGD:9068941 20200609 RGD PMID:24454819|REF_RGD_ID:13432063 12155978 TCF3 transcription factor 3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1351290 D RGD:9068941 20200609 RGD DNA, mRNA:hypomethylation, increased expression PMID:25375219|REF_RGD_ID:13432058 12155978 TCF3 transcription factor 3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1351290 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:rs1052918 (human) PMID:23940558|REF_RGD_ID:13432062 12155978 TCF3 transcription factor 3 gene DOID:9538 multiple myeloma ISO RGD:1351290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12155978 TCF3 transcription factor 3 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1351290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26214592 12156000 SNTA1 syntrophin alpha 1 gene DOID:0050451 Brugada syndrome ISO RGD:1316039 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:26220970|PMID:28492532 12156000 SNTA1 syntrophin alpha 1 gene DOID:0060224 atrial fibrillation ISO RGD:1316039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:18591664|PMID:22378279|PMID:25741868|PMID:27028743|PMID:28492532|PMID:31589614 12156000 SNTA1 syntrophin alpha 1 gene DOID:0081164 dilated cardiomyopathy 3B ISO RGD:1316039 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 3B PMID:25741868|PMID:28492532 12156000 SNTA1 syntrophin alpha 1 gene DOID:0110461 X-linked dilated cardiomyopathy ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, X-LINKED PMID:25741868|PMID:28492532 12156000 SNTA1 syntrophin alpha 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:1316039 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:19684871|PMID:20009079|PMID:22584458|PMID:23834499|PMID:23861362|PMID:24014171|PMID:24319568|PMID:25650408|PMID:25741868|PMID:25956966|PMID:26159999|PMID:28492532|PMID:28837624|PMID:29343803|PMID:30847666 12156000 SNTA1 syntrophin alpha 1 gene DOID:0110645 long QT syndrome 2 ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 12156000 SNTA1 syntrophin alpha 1 gene DOID:0110653 long QT syndrome 12 ISO RGD:1316039 D RGD:7240710 20180130 OMIM 12156000 SNTA1 syntrophin alpha 1 gene DOID:0110653 long QT syndrome 12 ISO RGD:1316039 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12 PMID:17576681|PMID:18591664|PMID:19684871|PMID:20009079|PMID:22378279|PMID:22584458|PMID:23376825|PMID:23465283|PMID:23631430|PMID:23834499|PMID:23861362|PMID:24014171|PMID:24319568|PMID:25395996|PMID:25650408|PMID:25741868|PMID:25864170|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26220970|PMID:27028743|PMID:28074886|PMID:28166811|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28837624|PMID:29247119|PMID:29343803|PMID:29806494|PMID:30403391|PMID:30471092|PMID:30615648|PMID:30847666|PMID:30975432|PMID:31589614|PMID:31737537|PMID:32032478|PMID:9536098 12156000 SNTA1 syntrophin alpha 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:25741868|PMID:28492532 12156000 SNTA1 syntrophin alpha 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 12156000 SNTA1 syntrophin alpha 1 gene DOID:13884 sick sinus syndrome ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome PMID:25741868|PMID:28492532 12156000 SNTA1 syntrophin alpha 1 gene DOID:1824 status epilepticus ISO RGD:1307068 D RGD:9068941 20200609 RGD protein:decreased expression:piriform cortex PMID:20886625|REF_RGD_ID:5148023 12156000 SNTA1 syntrophin alpha 1 gene DOID:1824 status epilepticus ISO RGD:1316039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20886625 12156000 SNTA1 syntrophin alpha 1 gene DOID:2843 long QT syndrome ISO RGD:1316039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:16199547|PMID:17576681|PMID:18591664|PMID:19684871|PMID:20009079|PMID:22378279|PMID:22584458|PMID:23376825|PMID:23465283|PMID:23631430|PMID:23834499|PMID:23861362|PMID:24014171|PMID:24319568|PMID:24981977|PMID:25395996|PMID:25650408|PMID:25741868|PMID:25864170|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26220970|PMID:27028743|PMID:27231019|PMID:28074886|PMID:28166811|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28837624|PMID:29247119|PMID:29343803|PMID:29806494|PMID:30403391|PMID:30471092|PMID:30615648|PMID:30847666|PMID:30975432|PMID:31589614|PMID:31737537|PMID:32032478|PMID:9536098 12156000 SNTA1 syntrophin alpha 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:23631430|PMID:28492532 12156000 SNTA1 syntrophin alpha 1 gene DOID:630 genetic disease ISO RGD:1316039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156000 SNTA1 syntrophin alpha 1 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation 12156000 SNTA1 syntrophin alpha 1 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1316039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:26220970|PMID:28492532 12156000 SNTA1 syntrophin alpha 1 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1316039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:25741868|PMID:28492532|PMID:28837624 12156000 SNTA1 syntrophin alpha 1 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1316039 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:25741868|PMID:28492532|PMID:28837624|PMID:30847666 12156000 SNTA1 syntrophin alpha 1 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:20009079|PMID:24319568|PMID:25650408|PMID:25741868|PMID:28492532|PMID:29343803 12156000 SNTA1 syntrophin alpha 1 gene DOID:9007 sudden infant death syndrome susceptibility ISO RGD:1316039 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple PMID:20009079|REF_RGD_ID:6771369 12156000 SNTA1 syntrophin alpha 1 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:1316039 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:28492532 12156000 SNTA1 syntrophin alpha 1 gene DOID:9883 Becker muscular dystrophy ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type PMID:25741868|PMID:28492532 12156013 RALYL RALY RNA binding protein like gene DOID:630 genetic disease ISO RGD:1606457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156013 RALYL RALY RNA binding protein like gene DOID:9008939 Breast Neoplasms ISO RGD:1606457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12156055 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:0110822 hereditary spastic paraplegia 77 ISO RGD:1342814 D RGD:7240710 20190315 OMIM 12156055 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:0110822 hereditary spastic paraplegia 77 ISO RGD:1342814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 77 | ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive PMID:25741868|PMID:25851414|PMID:26553276|PMID:28492532|PMID:29126765|PMID:30177229|PMID:30869852|PMID:31665838|PMID:32007496|PMID:32989326|PMID:33168986|PMID:33972171 12156055 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:0111476 combined oxidative phosphorylation deficiency 19 ISO RGD:1342814 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 19 PMID:25741868|PMID:28492532 12156055 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:0111477 combined oxidative phosphorylation deficiency 14 ISO RGD:1342814 D RGD:7240710 20180130 OMIM 12156055 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:0111477 combined oxidative phosphorylation deficiency 14 ISO RGD:1342814 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 PMID:16199547|PMID:17576681|PMID:22499341|PMID:22833457|PMID:24161539|PMID:25558065|PMID:25640679|PMID:25741868|PMID:25851414|PMID:26553276|PMID:27095821|PMID:27549011|PMID:27652284|PMID:28043061|PMID:28419689|PMID:28492532|PMID:29126765|PMID:29302074|PMID:30177229|PMID:30250868|PMID:30634555|PMID:30869852|PMID:31329004|PMID:31665838|PMID:31692161|PMID:32007496|PMID:32597768|PMID:32774346|PMID:32989326|PMID:33168986|PMID:33176815|PMID:33972171|PMID:9536098 12156055 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:1059 intellectual disability ISO RGD:1342814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12156055 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:5419 schizophrenia ISO RGD:1342814 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12156055 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1342814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22833457|PMID:25741868|PMID:28419689|PMID:28492532|PMID:29126765|PMID:32007496|PMID:32989326 12156055 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1342814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalomyopathy PMID:22499341|PMID:22833457|PMID:25558065|PMID:25741868|PMID:28492532|PMID:30177229|PMID:30869852 12156055 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:9008086 Developmental Disabilities ISO RGD:1342814 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22499341|PMID:22833457|PMID:25558065|PMID:25741868|PMID:28492532|PMID:30177229|PMID:30869852 12156087 NMRAL1 NmrA like redox sensor 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1603207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12156087 NMRAL1 NmrA like redox sensor 1 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1603207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 12156087 NMRAL1 NmrA like redox sensor 1 gene DOID:1826 epilepsy ISO RGD:1603207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12156087 NMRAL1 NmrA like redox sensor 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603207 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12156087 NMRAL1 NmrA like redox sensor 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1603207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12156087 NMRAL1 NmrA like redox sensor 1 gene DOID:630 genetic disease ISO RGD:1603207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156096 NTMT2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1601929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12156096 NTMT2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1601929 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156096 NTMT2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1601929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12156096 NTMT2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1601929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12156096 NTMT2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12156104 PIGS phosphatidylinositol glycan anchor biosynthesis class S gene DOID:630 genetic disease ISO RGD:1354267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12156104 PIGS phosphatidylinositol glycan anchor biosynthesis class S gene DOID:9004284 Developmental and Epileptic Encephalopathy 95 ISO RGD:1354267 D RGD:7240710 20190315 OMIM 12156104 PIGS phosphatidylinositol glycan anchor biosynthesis class S gene DOID:9004284 Developmental and Epileptic Encephalopathy 95 ISO RGD:1354267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 18 PMID:25741868|PMID:30269814|PMID:33410539 12156122 TOMM5 translocase of outer mitochondrial membrane 5 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1347873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12156122 TOMM5 translocase of outer mitochondrial membrane 5 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1347873 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12156122 TOMM5 translocase of outer mitochondrial membrane 5 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1347873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12156122 TOMM5 translocase of outer mitochondrial membrane 5 gene DOID:630 genetic disease ISO RGD:1347873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156122 TOMM5 translocase of outer mitochondrial membrane 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1347873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12156122 TOMM5 translocase of outer mitochondrial membrane 5 gene DOID:9870 galactosemia ISO RGD:1347873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12156128 FBXL22 F-box and leucine rich repeat protein 22 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1350469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12156128 FBXL22 F-box and leucine rich repeat protein 22 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1350469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12156128 FBXL22 F-box and leucine rich repeat protein 22 gene DOID:2717 Bloom syndrome ISO RGD:1350469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12156128 FBXL22 F-box and leucine rich repeat protein 22 gene DOID:630 genetic disease ISO RGD:1350469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156128 FBXL22 F-box and leucine rich repeat protein 22 gene DOID:9256 colorectal cancer ISO RGD:1350469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12156134 PITPNC1 phosphatidylinositol transfer protein cytoplasmic 1 gene DOID:630 genetic disease ISO RGD:1312467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156146 UBE2G2 ubiquitin conjugating enzyme E2 G2 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1312541 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 12156146 UBE2G2 ubiquitin conjugating enzyme E2 G2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1312541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12156146 UBE2G2 ubiquitin conjugating enzyme E2 G2 gene DOID:0110266 cataract 9 multiple types ISO RGD:1312541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12156146 UBE2G2 ubiquitin conjugating enzyme E2 G2 gene DOID:12849 autistic disorder ISO RGD:1312541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12156146 UBE2G2 ubiquitin conjugating enzyme E2 G2 gene DOID:630 genetic disease ISO RGD:1312541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156146 UBE2G2 ubiquitin conjugating enzyme E2 G2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1312541 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12156146 UBE2G2 ubiquitin conjugating enzyme E2 G2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12156146 UBE2G2 ubiquitin conjugating enzyme E2 G2 gene DOID:9263 homocystinuria ISO RGD:1312541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12156146 UBE2G2 ubiquitin conjugating enzyme E2 G2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1312541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12156168 SNRNP25 small nuclear ribonucleoprotein U11/U12 subunit 25 gene DOID:630 genetic disease ISO RGD:1322103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156180 FAM183A cilia and flagella associated protein 144 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:2299984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12156180 FAM183A cilia and flagella associated protein 144 gene DOID:630 genetic disease ISO RGD:2299984 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156180 FAM183A cilia and flagella associated protein 144 gene DOID:9007802 GLUT1 Deficiency Syndrome ISO RGD:2299984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive PMID:28492532 12156212 ZNF425 zinc finger protein 425 gene DOID:630 genetic disease ISO RGD:1606140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156223 LOC100855552 creatine kinase B-type gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:730974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12156223 LOC100855552 creatine kinase B-type gene DOID:299 adenocarcinoma ISO RGD:730974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 12156223 LOC100855552 creatine kinase B-type gene DOID:5409 lung small cell carcinoma ISO RGD:730974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2828370 12156223 LOC100855552 creatine kinase B-type gene DOID:5426 primary ovarian insufficiency ISO RGD:730974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12156223 LOC100855552 creatine kinase B-type gene DOID:5844 myocardial infarction ISO RGD:730974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12359538 12156223 LOC100855552 creatine kinase B-type gene DOID:630 genetic disease ISO RGD:730974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156223 LOC100855552 creatine kinase B-type gene DOID:9000217 Stomach Neoplasms ISO RGD:730974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 12156223 LOC100855552 creatine kinase B-type gene DOID:9001686 Acute Coronary Syndrome ISO RGD:730974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15966572 12156223 LOC100855552 creatine kinase B-type gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:730974 D RGD:9068941 20200609 RGD PMID:12039490|REF_RGD_ID:1598441 12156223 LOC100855552 creatine kinase B-type gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:730974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 12156223 LOC100855552 creatine kinase B-type gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:730974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11406506 12156223 LOC100855552 creatine kinase B-type gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12156235 UCN3 urocortin 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1352070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12156235 UCN3 urocortin 3 gene DOID:5419 schizophrenia ISO RGD:1352070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12156235 UCN3 urocortin 3 gene DOID:630 genetic disease ISO RGD:1352070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156235 UCN3 urocortin 3 gene DOID:850 lung disease ISO RGD:1352070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16855006 12156235 UCN3 urocortin 3 gene DOID:9005372 Inflammation ISO RGD:1352070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16855006 12156294 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0050777 Joubert syndrome ISO RGD:1605184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12156294 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1605184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12156294 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1605184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12156294 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1605184 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12156294 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1605184 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12156294 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0080497 ovarian dysgenesis 5 ISO RGD:1605184 D RGD:7240710 20190315 OMIM 12156294 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0080497 ovarian dysgenesis 5 ISO RGD:1605184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 5 PMID:17301727|PMID:25741868|PMID:25774885 12156294 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1605184 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 12156294 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1605184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12156294 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0111910 spermatogenic failure ISO RGD:1605184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic Failure PMID:20506135|PMID:28492532|PMID:28718531 12156294 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0111925 spermatogenic failure 32 ISO RGD:1605184 D RGD:7240710 20190315 OMIM 12156294 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0111925 spermatogenic failure 32 ISO RGD:1605184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 32 PMID:20506135|PMID:28492532|PMID:28718531 12156294 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1605184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12156294 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:1924 hypogonadism ISO RGD:1605184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hypergonadotropic hypogonadism PMID:17301727|PMID:25741868|PMID:25774885 12156294 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:3652 Leigh disease ISO RGD:1605184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12156294 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome 12156294 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:630 genetic disease ISO RGD:1605184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156294 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1605184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 12156331 BLID BH3-like motif containing, cell death inducer gene DOID:5419 schizophrenia ISO RGD:1606631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12156331 BLID BH3-like motif containing, cell death inducer gene DOID:630 genetic disease ISO RGD:1606631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156331 BLID BH3-like motif containing, cell death inducer gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12156331 BLID BH3-like motif containing, cell death inducer gene DOID:9007661 Dwarfism ISO RGD:1606631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12156342 TMPPE transmembrane protein with metallophosphoesterase domain gene DOID:0080489 GM1 gangliosidosis type 3 ISO RGD:2304158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GM1 gangliosidosis type 3 PMID:16941474|PMID:17576681|PMID:21497194|PMID:25741868|PMID:28492532|PMID:29160035|PMID:8198123|PMID:8199591|PMID:9536098 12156342 TMPPE transmembrane protein with metallophosphoesterase domain gene DOID:0080501 GM1 gangliosidosis type 2 ISO RGD:2304158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GM1 gangliosidosis type 2 PMID:16199547|PMID:16941474|PMID:18524657|PMID:25741868|PMID:28492532 12156342 TMPPE transmembrane protein with metallophosphoesterase domain gene DOID:0080502 GM1 gangliosidosis type 1 ISO RGD:2304158 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Infantile GM1 gangliosidosis PMID:16199547|PMID:16941474|PMID:17576681|PMID:18524657|PMID:21497194|PMID:25741868|PMID:28492532|PMID:29160035|PMID:8198123|PMID:8199591|PMID:9536098 12156342 TMPPE transmembrane protein with metallophosphoesterase domain gene DOID:0110337 osteogenesis imperfecta type 7 ISO RGD:2304158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 PMID:28492532 12156342 TMPPE transmembrane protein with metallophosphoesterase domain gene DOID:0111392 mucopolysaccharidosis type IVB ISO RGD:2304158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B PMID:16199547|PMID:16941474|PMID:17576681|PMID:18524657|PMID:21497194|PMID:23757202|PMID:25741868|PMID:26646981|PMID:28492532|PMID:29160035|PMID:33558080|PMID:8198123|PMID:8199591|PMID:9536098 12156342 TMPPE transmembrane protein with metallophosphoesterase domain gene DOID:12804 mucopolysaccharidosis IV ISO RGD:2304158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Morquio syndrome 12156342 TMPPE transmembrane protein with metallophosphoesterase domain gene DOID:3322 GM1 gangliosidosis ISO RGD:2304158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GM1 gangliosidosis PMID:16941474|PMID:25741868|PMID:28492532 12156342 TMPPE transmembrane protein with metallophosphoesterase domain gene DOID:630 genetic disease ISO RGD:2304158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12156366 CCL28 C-C motif chemokine ligand 28 gene DOID:10763 hypertension ISO RGD:619937 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney (rat) PMID:19829664|REF_RGD_ID:4892132 12156366 CCL28 C-C motif chemokine ligand 28 gene DOID:10763 hypertension no_association ISO RGD:619937 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:16840655|REF_RGD_ID:2298761 12156366 CCL28 C-C motif chemokine ligand 28 gene DOID:1176 bronchial disease ISO RGD:1552437 D RGD:9068941 20200609 RGD Allergic Airway Disease PMID:15681819|REF_RGD_ID:4892197 12156366 CCL28 C-C motif chemokine ligand 28 gene DOID:2841 asthma ISO RGD:1552437 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:16290206|REF_RGD_ID:4892195 12156366 CCL28 C-C motif chemokine ligand 28 gene DOID:3310 atopic dermatitis severity ISO RGD:1349737 D RGD:9068941 20200609 RGD associated with Asthma; protein: increased secretion:serum (human) PMID:20161852|REF_RGD_ID:4892193 12156366 CCL28 C-C motif chemokine ligand 28 gene DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy ISO RGD:1552437 D RGD:9068941 20200609 RGD PMID:19050296|REF_RGD_ID:4890012 12156366 CCL28 C-C motif chemokine ligand 28 gene DOID:614 lymphopenia ISO RGD:619937 D RGD:9068941 20200609 RGD protein:decreased expression:small intestine villus (rat) PMID:19393265|REF_RGD_ID:4892224 12156366 CCL28 C-C motif chemokine ligand 28 gene DOID:630 genetic disease ISO RGD:1349737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156366 CCL28 C-C motif chemokine ligand 28 gene DOID:9001488 Human Influenza resistance ISO RGD:1552437 D RGD:9068941 20200609 RGD PMID:19847203|REF_RGD_ID:4892196 12156366 CCL28 C-C motif chemokine ligand 28 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12156366 CCL28 C-C motif chemokine ligand 28 gene DOID:9008225 Respirovirus Infections ISO RGD:1552437 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:17954569|REF_RGD_ID:4892194 12156371 SMYD1 SET and MYND domain containing 1 gene DOID:630 genetic disease ISO RGD:1312941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156386 COPB2 COPI coat complex subunit beta 2 gene DOID:0070281 primary autosomal recessive microcephaly 19 ISO RGD:732794 D RGD:7240710 20190315 OMIM 12156386 COPB2 COPI coat complex subunit beta 2 gene DOID:0070281 primary autosomal recessive microcephaly 19 ISO RGD:732794 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: COPB2-related condition | ClinVar Annotator: match by term: Microcephaly 19, primary, autosomal recessive PMID:25741868|PMID:28492532|PMID:29036432|PMID:34450031 12156386 COPB2 COPI coat complex subunit beta 2 gene DOID:0080600 COVID-19 ISO RGD:732794 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12156386 COPB2 COPI coat complex subunit beta 2 gene DOID:10907 microcephaly ISO RGD:1550457 D RGD:9068941 20220825 MouseDO OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 12156386 COPB2 COPI coat complex subunit beta 2 gene DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome ISO RGD:732794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome 12156386 COPB2 COPI coat complex subunit beta 2 gene DOID:630 genetic disease ISO RGD:732794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12156386 COPB2 COPI coat complex subunit beta 2 gene DOID:9001870 Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay ISO RGD:732794 D RGD:7240710 20220608 OMIM 12156386 COPB2 COPI coat complex subunit beta 2 gene DOID:9001870 Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay ISO RGD:732794 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Osteoporosis, childhood- or juvenile-onset, with developmental delay PMID:25741868|PMID:34450031 12156412 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 gene DOID:0050690 brachyolmia ISO RGD:1315952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachyolmia PMID:22791835|PMID:23633440|PMID:24033266|PMID:28492532 12156412 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1315952 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 12156412 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 gene DOID:0050812 spondyloepimetaphyseal dysplasia, Pakistani type ISO RGD:1315952 D RGD:7240710 20180130 OMIM 12156412 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 gene DOID:0050812 spondyloepimetaphyseal dysplasia, Pakistani type ISO RGD:1315952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, pakistani type PMID:16199547|PMID:17576681|PMID:19474428|PMID:22791835|PMID:23633440|PMID:23824674|PMID:24033266|PMID:25326635|PMID:25594860|PMID:25741868|PMID:28492532|PMID:31313512|PMID:9536098|PMID:9714015|PMID:9771708 12156412 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1315952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 12156412 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 gene DOID:630 genetic disease ISO RGD:1315952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12156431 BST1 bone marrow stromal cell antigen 1 gene DOID:0050777 Joubert syndrome ISO RGD:1342632 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12156431 BST1 bone marrow stromal cell antigen 1 gene DOID:14330 Parkinson's disease ISO RGD:1342632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19915576 12156431 BST1 bone marrow stromal cell antigen 1 gene DOID:630 genetic disease ISO RGD:1342632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156431 BST1 bone marrow stromal cell antigen 1 gene DOID:850 lung disease ISO RGD:1342632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21602193 12156452 ZER1 zyg-11 related cell cycle regulator gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12156452 ZER1 zyg-11 related cell cycle regulator gene DOID:630 genetic disease ISO RGD:1321095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156474 DYTN dystrotelin gene DOID:14557 primary pulmonary hypertension ISO RGD:1606642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12156474 DYTN dystrotelin gene DOID:630 genetic disease ISO RGD:1606642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156474 DYTN dystrotelin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12156508 SLC23A2 solute carrier family 23 member 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1353786 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12156508 SLC23A2 solute carrier family 23 member 2 gene DOID:13580 cholestasis ISO RGD:1353786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18706437 12156508 SLC23A2 solute carrier family 23 member 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1353786 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12156508 SLC23A2 solute carrier family 23 member 2 gene DOID:630 genetic disease ISO RGD:1353786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156508 SLC23A2 solute carrier family 23 member 2 gene DOID:9006302 Binge Drinking ISO RGD:619876 D RGD:9068941 20200609 RGD PMID:27085842|REF_RGD_ID:26884454 12156548 LOC403581 peptidylprolyl isomerase A (cyclophilin A) pseudogene gene DOID:10763 hypertension ISO RGD:731273 D RGD:9068941 20210903 RGD mRNA:increased expression:alveolar system (human) PMID:32496587|REF_RGD_ID:150383342 12156548 LOC403581 peptidylprolyl isomerase A (cyclophilin A) pseudogene gene DOID:12506 Bell's palsy exacerbates ISO RGD:731273 D RGD:9068941 20210910 RGD protein:increased expression:blood serum (human) PMID:32149981|REF_RGD_ID:150429625 12156548 LOC403581 peptidylprolyl isomerase A (cyclophilin A) pseudogene gene DOID:1474 aggressive periodontitis ISO RGD:731273 D RGD:9068941 20210910 RGD protein:increased expression:gingiva (human) PMID:27176139|REF_RGD_ID:150429628 12156548 LOC403581 peptidylprolyl isomerase A (cyclophilin A) pseudogene gene DOID:1749 squamous cell carcinoma ISO RGD:731273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12156548 LOC403581 peptidylprolyl isomerase A (cyclophilin A) pseudogene gene DOID:1826 epilepsy ISO RGD:3372 D RGD:9068941 20200609 RGD PMID:20626060|REF_RGD_ID:4890972 12156548 LOC403581 peptidylprolyl isomerase A (cyclophilin A) pseudogene gene DOID:1883 hepatitis C ameliorates ISO RGD:11131 D RGD:9068941 20210910 RGD PMID:23903655|REF_RGD_ID:150429630 12156548 LOC403581 peptidylprolyl isomerase A (cyclophilin A) pseudogene gene DOID:3310 atopic dermatitis ISO RGD:731273 D RGD:9068941 20210903 RGD mRNA:increased expression:zone of skin (human) PMID:32496587|REF_RGD_ID:150383342 12156548 LOC403581 peptidylprolyl isomerase A (cyclophilin A) pseudogene gene DOID:3908 lung non-small cell carcinoma ISO RGD:731273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 12156548 LOC403581 peptidylprolyl isomerase A (cyclophilin A) pseudogene gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12156548 LOC403581 peptidylprolyl isomerase A (cyclophilin A) pseudogene gene DOID:4947 cholangiocarcinoma ameliorates ISO RGD:731273 D RGD:9068941 20210910 RGD human cell line and construct in a mouse model PMID:21871105|REF_RGD_ID:150429623 12156548 LOC403581 peptidylprolyl isomerase A (cyclophilin A) pseudogene gene DOID:526 human immunodeficiency virus infectious disease disease_progression ISO RGD:731273 D RGD:9068941 20210903 RGD DNA:SNPs:promotor, intron 1: 1604C>G, 2653A>C (rs8177826, rs3735481) (human) PMID:17590083|REF_RGD_ID:150383341 12156548 LOC403581 peptidylprolyl isomerase A (cyclophilin A) pseudogene gene DOID:649 prion disease exacerbates ISO RGD:11131 D RGD:9068941 20210903 RGD PMID:31181281|REF_RGD_ID:150383343 12156548 LOC403581 peptidylprolyl isomerase A (cyclophilin A) pseudogene gene DOID:9000217 Stomach Neoplasms ISO RGD:731273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 12156548 LOC403581 peptidylprolyl isomerase A (cyclophilin A) pseudogene gene DOID:9000371 influenza A ameliorates ISO RGD:731273 D RGD:9068941 20210910 RGD human gene in a mouse model PMID:27354005|REF_RGD_ID:150429624 12156548 LOC403581 peptidylprolyl isomerase A (cyclophilin A) pseudogene gene DOID:9000469 Viral Myocarditis ameliorates ISO RGD:11131 D RGD:9068941 20210910 RGD associated with Coxsackievirus Infections PMID:22446162|REF_RGD_ID:150429627 12156548 LOC403581 peptidylprolyl isomerase A (cyclophilin A) pseudogene gene DOID:9000965 Neoplasm Metastasis ISO RGD:731273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21956400 12156548 LOC403581 peptidylprolyl isomerase A (cyclophilin A) pseudogene gene DOID:9004484 Sepsis treatment ISO RGD:11131 D RGD:9068941 20210910 RGD PMID:29680745|REF_RGD_ID:150429626 12156548 LOC403581 peptidylprolyl isomerase A (cyclophilin A) pseudogene gene DOID:9007364 Mouth Neoplasms ISO RGD:731273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12156548 LOC403581 peptidylprolyl isomerase A (cyclophilin A) pseudogene gene DOID:9008225 Respirovirus Infections exacerbates ISO RGD:11131 D RGD:9068941 20210910 RGD PMID:28594325|REF_RGD_ID:150429629 12156548 LOC403581 peptidylprolyl isomerase A (cyclophilin A) pseudogene gene DOID:9261 nasopharynx carcinoma ISO RGD:731273 D RGD:9068941 20210910 RGD mRNA, protein:increased expression:blood serum, nasopharynx, extracellular exosome (human) PMID:31063269|REF_RGD_ID:150429622 12156548 LOC403581 peptidylprolyl isomerase A (cyclophilin A) pseudogene gene DOID:9970 obesity ISO RGD:731273 D RGD:9068941 20210903 RGD mRNA:increased expression:blood (human) PMID:32496587|REF_RGD_ID:150383342 12156557 NEFH neurofilament heavy chain gene DOID:0040089 autoimmune optic neuritis severity ISO RGD:736723 D RGD:9068941 20200609 RGD PMID:23316360|REF_RGD_ID:27226805 12156557 NEFH neurofilament heavy chain gene DOID:0050328 congenital hypothyroidism ISO RGD:3159 D RGD:9068941 20200609 RGD protein:decreased expression, increased phosphorylation PMID:18845185|REF_RGD_ID:9693732 12156557 NEFH neurofilament heavy chain gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:25741868|PMID:28492532 12156557 NEFH neurofilament heavy chain gene DOID:0060193 amyotrophic lateral sclerosis type 1 susceptibility ISO RGD:736723 D RGD:7240710 20230517 OMIM 12156557 NEFH neurofilament heavy chain gene DOID:0110180 Charcot-Marie-Tooth disease axonal type 2CC ISO RGD:736723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2CC PMID:25741868|PMID:27040688|PMID:28492532|PMID:29587262|PMID:30992180 12156557 NEFH neurofilament heavy chain gene DOID:0110180 Charcot-Marie-Tooth disease axonal type 2CC susceptibility ISO RGD:736723 D RGD:7240710 20230517 OMIM 12156557 NEFH neurofilament heavy chain gene DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C ISO RGD:736723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C PMID:25741868 12156557 NEFH neurofilament heavy chain gene DOID:0111252 neurofibromatosis 2 ISO RGD:736723 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 12156557 NEFH neurofilament heavy chain gene DOID:11260 rabies ISO RGD:10969 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord: PMID:29509660|REF_RGD_ID:27226884 12156557 NEFH neurofilament heavy chain gene DOID:11446 sciatic neuropathy ISO RGD:3159 D RGD:9068941 20200609 RGD PMID:3135913|REF_RGD_ID:9693730 12156557 NEFH neurofilament heavy chain gene DOID:11446 sciatic neuropathy treatment ISO RGD:3159 D RGD:9068941 20200609 RGD PMID:12445968|REF_RGD_ID:9743941 12156557 NEFH neurofilament heavy chain gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:736723 D RGD:9068941 20210618 RGD protein:increased expression:CSF (human) PMID:27929120|REF_RGD_ID:127284887 12156557 NEFH neurofilament heavy chain gene DOID:1210 optic neuritis ISO RGD:736723 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:29085182|REF_RGD_ID:27226813 12156557 NEFH neurofilament heavy chain gene DOID:1210 optic neuritis severity ISO RGD:736723 D RGD:9068941 20200609 RGD PMID:15258226|REF_RGD_ID:27226814 12156557 NEFH neurofilament heavy chain gene DOID:1459 hypothyroidism treatment ISO RGD:3159 D RGD:9068941 20200609 RGD PMID:10439464|REF_RGD_ID:9743942 12156557 NEFH neurofilament heavy chain gene DOID:1686 glaucoma ISO RGD:3159 D RGD:9068941 20200609 RGD protein:decreased expression:optic nerve: PMID:28498493|REF_RGD_ID:27226819 12156557 NEFH neurofilament heavy chain gene DOID:224 transient cerebral ischemia ISO RGD:3159 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:8726968|REF_RGD_ID:9743938 12156557 NEFH neurofilament heavy chain gene DOID:2377 multiple sclerosis severity ISO RGD:736723 D RGD:9068941 20200609 RGD PMID:16764346|REF_RGD_ID:27226808 12156557 NEFH neurofilament heavy chain gene DOID:2378 relapsing-remitting multiple sclerosis treatment ISO RGD:736723 D RGD:9068941 20200609 RGD PMID:15222692|REF_RGD_ID:27226879 12156557 NEFH neurofilament heavy chain gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532 12156557 NEFH neurofilament heavy chain gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:10969 D RGD:9068941 20200609 RGD PMID:10686419|REF_RGD_ID:13525000 12156557 NEFH neurofilament heavy chain gene DOID:3525 middle cerebral artery infarction ISO RGD:10969 D RGD:9068941 20201211 RGD PMID:29967576|REF_RGD_ID:27226878 12156557 NEFH neurofilament heavy chain gene DOID:574 peripheral nervous system disease ISO RGD:736723 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 12156557 NEFH neurofilament heavy chain gene DOID:630 genetic disease ISO RGD:736723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23056405|PMID:25741868|PMID:27040688|PMID:28492532|PMID:28709447|PMID:28717666|PMID:29587262|PMID:30992180|PMID:33589474|PMID:9536098 12156557 NEFH neurofilament heavy chain gene DOID:7442 monoclonal gammopathy of uncertain significance ISO RGD:736723 D RGD:9068941 20200609 RGD associated with Peripheral Nervous System Diseases PMID:12536221|REF_RGD_ID:9693726 12156557 NEFH neurofilament heavy chain gene DOID:870 neuropathy ISO RGD:736723 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 12156557 NEFH neurofilament heavy chain gene DOID:8869 neuromyelitis optica ISO RGD:736723 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:23316360|REF_RGD_ID:27226805 12156557 NEFH neurofilament heavy chain gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:3159 D RGD:9068941 20200609 RGD PMID:18772508|PMID:32168135|REF_RGD_ID:27226888|REF_RGD_ID:9698443 12156557 NEFH neurofilament heavy chain gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease ISO RGD:736723 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:27929120|REF_RGD_ID:127284887 12156557 NEFH neurofilament heavy chain gene DOID:9001767 Unilateral Hearing Loss disease_progression ISO RGD:3159 D RGD:9068941 20200609 RGD PMID:27457532|REF_RGD_ID:27372873 12156557 NEFH neurofilament heavy chain gene DOID:9002211 Hyperalgesia treatment ISO RGD:3159 D RGD:9068941 20200609 RGD PMID:21071147|REF_RGD_ID:27226885 12156557 NEFH neurofilament heavy chain gene DOID:9002498 Wallerian Degeneration ISO RGD:3159 D RGD:9068941 20200609 RGD protein:decreased expression:neuron PMID:10646539|REF_RGD_ID:9698439 12156557 NEFH neurofilament heavy chain gene DOID:9003034 Anti-N-Methyl-D-Aspartate Receptor Encephalitis treatment ISO RGD:736723 D RGD:9068941 20200609 RGD PMID:31313506|REF_RGD_ID:27226816 12156557 NEFH neurofilament heavy chain gene DOID:9003740 Nerve Injuries treatment ISO RGD:3159 D RGD:9068941 20200609 RGD PMID:24269493|REF_RGD_ID:27226886 12156557 NEFH neurofilament heavy chain gene DOID:9004484 Sepsis severity ISO RGD:736723 D RGD:9068941 20200609 RGD PMID:30677080|REF_RGD_ID:27226881 12156557 NEFH neurofilament heavy chain gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3159 D RGD:9068941 20200609 RGD PMID:12941778|REF_RGD_ID:9698428 12156557 NEFH neurofilament heavy chain gene DOID:9006380 Bilateral Hearing Loss disease_progression ISO RGD:3159 D RGD:9068941 20200609 RGD PMID:27457532|REF_RGD_ID:27372873 12156557 NEFH neurofilament heavy chain gene DOID:9007752 Chronic Relapsing Experimental Autoimmune Encephalomyelitis ISO RGD:10969 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord: PMID:12742652|REF_RGD_ID:27226817 12156557 NEFH neurofilament heavy chain gene DOID:9007842 Sepsis-Associated Encephalopathy severity ISO RGD:736723 D RGD:9068941 20200609 RGD PMID:30677080|REF_RGD_ID:27226881 12156557 NEFH neurofilament heavy chain gene DOID:9008952 Breast Cancer, Familial ISO RGD:736723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 12156557 NEFH neurofilament heavy chain gene DOID:9281 phenylketonuria ISO RGD:3159 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:7507064|REF_RGD_ID:9693700 12156590 CCL26 C-C motif chemokine ligand 26 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma disease_progression ISO RGD:1344177 D RGD:9068941 20200609 RGD mRNA:increased expression:skin (human) PMID:20505746|REF_RGD_ID:11087556 12156590 CCL26 C-C motif chemokine ligand 26 gene DOID:13922 eosinophilic esophagitis ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:increased expression:esophagus (human) PMID:24704289|REF_RGD_ID:11081157 12156590 CCL26 C-C motif chemokine ligand 26 gene DOID:13922 eosinophilic esophagitis treatment ISO RGD:1344177 D RGD:9068941 20200609 RGD PMID:18844613|REF_RGD_ID:11081156 12156590 CCL26 C-C motif chemokine ligand 26 gene DOID:2841 asthma ISO RGD:1344177 D RGD:9068941 20200609 RGD DNA:SNPs: :77C>T, 2497T>G (human) PMID:15207712|REF_RGD_ID:4891495 12156590 CCL26 C-C motif chemokine ligand 26 gene DOID:2841 asthma ISO RGD:1344177 D RGD:9068941 20200609 RGD DNA:SNPs: :77C>T, 716A>G, 1579G>A (human) PMID:18712274|REF_RGD_ID:4891483 12156590 CCL26 C-C motif chemokine ligand 26 gene DOID:2841 asthma ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16304252|REF_RGD_ID:5130930 12156590 CCL26 C-C motif chemokine ligand 26 gene DOID:2841 asthma treatment ISO RGD:1587817 D RGD:9068941 20200609 RGD PMID:25399816|REF_RGD_ID:11087575 12156590 CCL26 C-C motif chemokine ligand 26 gene DOID:2841 asthma treatment ISO RGD:1619597 D RGD:9068941 20200609 RGD PMID:25530546|REF_RGD_ID:11081163 12156590 CCL26 C-C motif chemokine ligand 26 gene DOID:3049 Churg-Strauss syndrome ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21266446|REF_RGD_ID:11081158 12156590 CCL26 C-C motif chemokine ligand 26 gene DOID:3310 atopic dermatitis ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:14616792|REF_RGD_ID:11087554 12156590 CCL26 C-C motif chemokine ligand 26 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:16620281|REF_RGD_ID:11081161 12156590 CCL26 C-C motif chemokine ligand 26 gene DOID:4031 eosinophilic gastroenteritis ISO RGD:1344177 D RGD:9068941 20200609 RGD mRNA:increased expression:gastric antrum (human) PMID:25234644|REF_RGD_ID:11081160 12156590 CCL26 C-C motif chemokine ligand 26 gene DOID:4481 allergic rhinitis ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:increased expression:oronasal secretion (human) PMID:23883806|REF_RGD_ID:7364793 12156590 CCL26 C-C motif chemokine ligand 26 gene DOID:4483 rhinitis ISO RGD:1344177 D RGD:9068941 20200609 RGD DNA:polymorphism: :2497T>G (human) PMID:15580493|REF_RGD_ID:4891493 12156590 CCL26 C-C motif chemokine ligand 26 gene DOID:4483 rhinitis ISO RGD:1344177 D RGD:9068941 20200609 RGD associated with Eosinophilia;protein:increased expression:oronasal secretion (human) PMID:24989688|REF_RGD_ID:11531119 12156590 CCL26 C-C motif chemokine ligand 26 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12156590 CCL26 C-C motif chemokine ligand 26 gene DOID:630 genetic disease ISO RGD:1344177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156590 CCL26 C-C motif chemokine ligand 26 gene DOID:8506 bullous pemphigoid ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:increased expression:blister, serum (human) PMID:21881593|REF_RGD_ID:11087555 12156590 CCL26 C-C motif chemokine ligand 26 gene DOID:8534 gastroesophageal reflux disease ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:increased expression:esophagus (human) PMID:17900656|REF_RGD_ID:11081162 12156590 CCL26 C-C motif chemokine ligand 26 gene DOID:9000406 Eosinophilic Asthma severity ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:increased expression:sputum (human) PMID:25936567|REF_RGD_ID:11531115 12156590 CCL26 C-C motif chemokine ligand 26 gene DOID:9001371 Eosinophilia ISO RGD:1344177 D RGD:9068941 20200609 RGD associated with Pleural Effusion PMID:15947325|REF_RGD_ID:5130928 12156590 CCL26 C-C motif chemokine ligand 26 gene DOID:9001371 Eosinophilia ISO RGD:1344177 D RGD:9068941 20200609 RGD associated with Sinusitis PMID:19296494|REF_RGD_ID:4891487 12156590 CCL26 C-C motif chemokine ligand 26 gene DOID:9001472 Nasal Polyps ISO RGD:1344177 D RGD:9068941 20200609 RGD associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium PMID:21303604|REF_RGD_ID:5130929 12156590 CCL26 C-C motif chemokine ligand 26 gene DOID:9003778 Eosinophilic Pustular Folliculitis ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:increased expression:skin, sebocyte (human) PMID:22206772|REF_RGD_ID:11081159 12156590 CCL26 C-C motif chemokine ligand 26 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1344177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12156590 CCL26 C-C motif chemokine ligand 26 gene DOID:9415 allergic asthma treatment ISO RGD:1619597 D RGD:9068941 20200609 RGD PMID:25530546|REF_RGD_ID:11081163 12156595 GRINA glutamate ionotropic receptor NMDA type subunit associated protein 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1606337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12156595 GRINA glutamate ionotropic receptor NMDA type subunit associated protein 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1606337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12156595 GRINA glutamate ionotropic receptor NMDA type subunit associated protein 1 gene DOID:4621 holoprosencephaly ISO RGD:1606337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12156595 GRINA glutamate ionotropic receptor NMDA type subunit associated protein 1 gene DOID:630 genetic disease ISO RGD:1606337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156605 DRC1 dynein regulatory complex subunit 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1605894 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:25741868 12156605 DRC1 dynein regulatory complex subunit 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1617201 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 12156605 DRC1 dynein regulatory complex subunit 1 gene DOID:0110596 primary ciliary dyskinesia 21 ISO RGD:1605894 D RGD:7240710 20180130 OMIM 12156605 DRC1 dynein regulatory complex subunit 1 gene DOID:0110596 primary ciliary dyskinesia 21 ISO RGD:1605894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 21 PMID:12746204|PMID:16199547|PMID:23354437|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31213628|PMID:31270959|PMID:31701675|PMID:31960620 12156605 DRC1 dynein regulatory complex subunit 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1605894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12156605 DRC1 dynein regulatory complex subunit 1 gene DOID:630 genetic disease ISO RGD:1605894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12156605 DRC1 dynein regulatory complex subunit 1 gene DOID:9000573 Spermatogenic Failure 80 ISO RGD:1605894 D RGD:7240710 20230215 OMIM 12156605 DRC1 dynein regulatory complex subunit 1 gene DOID:9000573 Spermatogenic Failure 80 ISO RGD:1605894 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 80 PMID:34169321 12156605 DRC1 dynein regulatory complex subunit 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:12746204|PMID:16199547|PMID:17576681|PMID:23354437|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31213628|PMID:31270959|PMID:31701675|PMID:31960620|PMID:9536098 12156630 KRCC1 lysine rich coiled-coil 1 gene DOID:630 genetic disease ISO RGD:1605393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156664 FAR2 fatty acyl-CoA reductase 2 gene DOID:10140 dry eye syndrome ISO RGD:1556953 D RGD:9068941 20221103 MouseDO 12156664 FAR2 fatty acyl-CoA reductase 2 gene DOID:630 genetic disease ISO RGD:1344680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156664 FAR2 fatty acyl-CoA reductase 2 gene DOID:987 alopecia ISO RGD:1556953 D RGD:9068941 20220825 MouseDO OMIM:300042 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:0050336 hypophosphatemia ISO RGD:3708 D RGD:9068941 20200609 RGD protein:altered expression:renal cortex, brush border membrane (rat) PMID:20466874|REF_RGD_ID:7243098 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:0050336 hypophosphatemia ISO RGD:733686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9560283 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:0050336 hypophosphatemia ISO RGD:736512 D RGD:9068941 20200609 RGD PMID:19515808|PMID:9560283|REF_RGD_ID:7242939|REF_RGD_ID:7243007 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:0050336 hypophosphatemia ISO RGD:736512 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney (mouse) PMID:19933269|REF_RGD_ID:7242942 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:0050459 hyperphosphatemia ISO RGD:736512 D RGD:9068941 20200609 RGD PMID:20418498|REF_RGD_ID:7243099 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:0050459 hyperphosphatemia ISO RGD:736512 D RGD:9068941 20200609 RGD protein:increased expression:kidney (mouse) PMID:18835926|REF_RGD_ID:7242940 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:733686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria ISO RGD:733686 D RGD:9068941 20200609 RGD DNA:deletions, snps:multiple (human) PMID:16358215|REF_RGD_ID:7242925 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria ISO RGD:736512 D RGD:9068941 20200609 RGD PMID:19570882|REF_RGD_ID:7242924 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria ISO RGD:736512 D RGD:9068941 20220825 MouseDO OMIM:241530 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:0060903 thrombosis ISO RGD:733686 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:0080006 bone development disease ISO RGD:733686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9560283 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 ISO RGD:733686 D RGD:7240710 20180130 OMIM 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 ISO RGD:733686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 PMID:12324554|PMID:14672348|PMID:16199547|PMID:16688119|PMID:17576681|PMID:24033266|PMID:25050900|PMID:25082825|PMID:25741868|PMID:26047794|PMID:26272126|PMID:26787776|PMID:27378183|PMID:28492532|PMID:28893421|PMID:29959532|PMID:30778725|PMID:30943683|PMID:31672324|PMID:33099630|PMID:9536098 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:0080655 hypophosphatemic nephrolithiasis/osteoporosis ISO RGD:733686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic PMID:17576681|PMID:21920016|PMID:23348723|PMID:24029428|PMID:24033266|PMID:25050900|PMID:25524745|PMID:25741868|PMID:28492532|PMID:30943683|PMID:8528215|PMID:9354665|PMID:9536098 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:733686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:0080758 Fanconi renotubular syndrome 2 ISO RGD:733686 D RGD:7240710 20190327 OMIM 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:0080758 Fanconi renotubular syndrome 2 ISO RGD:733686 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fanconi renotubular syndrome 2 PMID:20335586|PMID:24033266|PMID:25741868|PMID:26047794|PMID:26787776|PMID:2842681|PMID:28492532|PMID:35738466 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:0080940 hereditary angioedema type III ISO RGD:733686 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ESTROGEN-SENSITIVE HAE | ClinVar Annotator: match by term: Hereditary angioedema, type III PMID:10984376|PMID:16638441|PMID:17186468|PMID:17825897|PMID:19178938|PMID:19474702|PMID:20490261|PMID:22920075|PMID:24033266|PMID:25741868|PMID:25744496|PMID:25790805|PMID:27130860|PMID:28492532 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:733686 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:10283 prostate cancer ISO RGD:733686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:1062 Fanconi syndrome ISO RGD:733686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:1062 Fanconi syndrome ISO RGD:733686 D RGD:9068941 20200609 RGD DNA:duplication:exon:g.2061_2081dup (human) PMID:20335586|REF_RGD_ID:7242923 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:10763 hypertension ISO RGD:733686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension PMID:16638441|PMID:25741868 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:11111 hydronephrosis ISO RGD:736512 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:p.A499V, p.V528M (mouse) PMID:18550648|REF_RGD_ID:7243122 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:1227 neutropenia ISO RGD:733686 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:28492532 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:12678 hypercalcemia ISO RGD:733686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9560283 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:12679 nephrocalcinosis ISO RGD:733686 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:16199547|PMID:16688119|PMID:25741868|PMID:26047794|PMID:28492532|PMID:28893421|PMID:29959532 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:1459 hypothyroidism ISO RGD:3708 D RGD:9068941 20200609 RGD protein:decreased expression:renal cortex, brush border membrane (rat) PMID:17409279|REF_RGD_ID:7243134 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:14735 hereditary angioedema ISO RGD:733686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary angioneurotic edema PMID:10984376|PMID:16638441|PMID:17186468|PMID:17825897|PMID:19178938|PMID:19474702|PMID:20490261|PMID:22920075|PMID:24033266|PMID:25050900|PMID:25741868|PMID:25744496|PMID:25790805|PMID:27130860|PMID:28492532|PMID:30943683 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:1555 urticaria ISO RGD:733686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Urticaria PMID:16638441|PMID:25741868 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:1558 angioedema ISO RGD:733686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angioedema PMID:16638441|PMID:25741868 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:2231 factor XII deficiency ISO RGD:733686 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar Annotator: match by term: Factor XII deficiency disease PMID:10984376|PMID:16638441|PMID:17186468|PMID:17576681|PMID:17825897|PMID:19178938|PMID:19474702|PMID:20490261|PMID:21920016|PMID:22920075|PMID:23348723|PMID:24029428|PMID:24033266|PMID:25050900|PMID:25524745|PMID:25741868|PMID:25744496|PMID:25790805|PMID:27130860|PMID:28492532|PMID:30943683|PMID:8528215|PMID:9354665|PMID:9536098 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:2741 bilirubin metabolic disorder ISO RGD:733686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperbilirubinemia PMID:16638441|PMID:25741868 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:3021 acute kidney failure disease_progression ISO RGD:736512 D RGD:9068941 20200609 RGD associated with Sepsis; protein:decreased expression:renal proximal tubule (mouse) PMID:19729856|REF_RGD_ID:7242943 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:736512 D RGD:9068941 20200609 RGD protein:decreased expression:kidney, brush border membrane (mouse) PMID:19193726|REF_RGD_ID:7242947 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:585 nephrolithiasis ISO RGD:733686 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS4+54C>T rs3812036 (human) PMID:22396660|REF_RGD_ID:7242927 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:585 nephrolithiasis onset ISO RGD:736512 D RGD:9068941 20200609 RGD associated with Hyperoxaluria PMID:18337544|REF_RGD_ID:7243005 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:630 genetic disease ISO RGD:733686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:783 end stage renal disease ISO RGD:3708 D RGD:9068941 20200609 RGD mRNA:decreased expression:renal cortex (rat) PMID:15452708|REF_RGD_ID:7242930 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:784 chronic kidney disease ISO RGD:3708 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney (rat) PMID:21826734|REF_RGD_ID:7242935 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:784 chronic kidney disease ISO RGD:733686 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS9+122A>G rs6420094 (human) PMID:20383146|REF_RGD_ID:7243100 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:7998 hyperthyroidism ISO RGD:3708 D RGD:9068941 20200609 RGD protein:increased expression:renal cortex, brush border membrane (rat) PMID:10098486|REF_RGD_ID:7243131 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:898 autosomal dominant polycystic kidney disease disease_progression ISO RGD:3708 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:renal cortex (rat) PMID:11004225|REF_RGD_ID:7242933 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:9000264 Hypercalcemia, Infantile, 2 ISO RGD:733686 D RGD:7240710 20190315 OMIM 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:9000264 Hypercalcemia, Infantile, 2 ISO RGD:733686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypercalcemia, infantile, 2 PMID:16199547|PMID:20466674|PMID:24033266|PMID:25741868|PMID:26047794|PMID:26787776|PMID:28492532|PMID:28893421|PMID:29959532|PMID:33099630 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:9001738 Hypercalciuria ISO RGD:733686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9560283 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:9001738 Hypercalciuria ISO RGD:736512 D RGD:9068941 20200609 RGD PMID:21784483|REF_RGD_ID:7242936 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:9002802 Acidoses ISO RGD:3708 D RGD:9068941 20200609 RGD protein:altered expression:kidney, brush border membrane (rat) PMID:19439519|REF_RGD_ID:7242944 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:9002802 Acidoses ISO RGD:736512 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney (mouse) PMID:18535837|REF_RGD_ID:7242948 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3708 D RGD:9068941 20200609 RGD protein:decreased expression:renal proximal tubule PMID:15775707|REF_RGD_ID:2311304 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:9005216 Infantile Hypercalcemia ISO RGD:733686 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypercalcemia, infantile PMID:24033266|PMID:25741868 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:9005267 Potassium Deficiency ISO RGD:3708 D RGD:9068941 20200609 RGD protein:decreased expression:renal cortex, brush border membrane (rat) PMID:15355967|REF_RGD_ID:7243096 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3708 D RGD:9068941 20200609 RGD protein:decreased expression:renal proximal tubule, brush border membrane (rat) PMID:15775707|REF_RGD_ID:2311304 12156685 SLC34A1 solute carrier family 34 member 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:733686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12156727 DHX38 DEAH-box helicase 38 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1321196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12156727 DHX38 DEAH-box helicase 38 gene DOID:0112141 retinitis pigmentosa 84 ISO RGD:1321196 D RGD:7240710 20190315 OMIM 12156727 DHX38 DEAH-box helicase 38 gene DOID:0112141 retinitis pigmentosa 84 ISO RGD:1321196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 84 PMID:24737827|PMID:25741868|PMID:28492532|PMID:30208423 12156727 DHX38 DEAH-box helicase 38 gene DOID:10584 retinitis pigmentosa ISO RGD:1321196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:30208423 12156727 DHX38 DEAH-box helicase 38 gene DOID:630 genetic disease ISO RGD:1321196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12156761 MAP3K3 mitogen-activated protein kinase kinase kinase 3 gene DOID:470 verrucous keratotic hemangioma ISO RGD:1312092 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Verrucous hemangioma PMID:25741868 12156761 MAP3K3 mitogen-activated protein kinase kinase kinase 3 gene DOID:630 genetic disease ISO RGD:1312092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156761 MAP3K3 mitogen-activated protein kinase kinase kinase 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1312092 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17068819 12156781 RPA3 replication protein A3 gene DOID:630 genetic disease ISO RGD:1315635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156793 RNGTT RNA guanylyltransferase and 5'-phosphatase gene DOID:630 genetic disease ISO RGD:1322859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156818 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:13207 proliferative diabetic retinopathy disease_progression ISO RGD:734409 D RGD:9068941 20200609 RGD protein:decreased expression:vitreous: PMID:22864860|REF_RGD_ID:9685437 12156818 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:734409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12156818 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:206 hereditary multiple exostoses ISO RGD:734409 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 12156818 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:2237 hepatitis ISO RGD:734409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17850827 12156818 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:630 genetic disease ISO RGD:734409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12156818 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:734409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 12156818 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9001191 Cadmium Poisoning ISO RGD:69298 D RGD:9068941 20200609 RGD protein:increased activity:plasma: PMID:24361405|REF_RGD_ID:9685430 12156818 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69298 D RGD:9068941 20200609 RGD protein:increased activity:serum: PMID:17850827|REF_RGD_ID:9685426 12156818 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 12156818 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:69298 D RGD:9068941 20200609 RGD PMID:20957682|REF_RGD_ID:9685427 12156818 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9002211 Hyperalgesia treatment ISO RGD:69298 D RGD:9068941 20200609 RGD PMID:20392816|REF_RGD_ID:9685429 12156818 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9003996 Birth Weight ISO RGD:734409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23866971 12156818 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:734409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 12156818 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69298 D RGD:9068941 20200609 RGD protein:decreased expression:retina: PMID:22864860|REF_RGD_ID:9685437 12156818 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:69298 D RGD:9068941 20200609 RGD protein:increased activity:serum: PMID:17850827|REF_RGD_ID:9685426 12156818 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9008691 Liver Injury ISO RGD:69298 D RGD:9068941 20200609 RGD protein:increased activity:serum: PMID:17850827|REF_RGD_ID:9685426 12156867 GPRC6A G protein-coupled receptor class C group 6 member A gene DOID:0060163 body dysmorphic disorder ISO RGD:1352441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 12156867 GPRC6A G protein-coupled receptor class C group 6 member A gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1352441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12156867 GPRC6A G protein-coupled receptor class C group 6 member A gene DOID:1059 intellectual disability ISO RGD:1352441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 12156867 GPRC6A G protein-coupled receptor class C group 6 member A gene DOID:10907 microcephaly ISO RGD:1352441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 12156867 GPRC6A G protein-coupled receptor class C group 6 member A gene DOID:1826 epilepsy ISO RGD:1352441 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12156867 GPRC6A G protein-coupled receptor class C group 6 member A gene DOID:1923 disorder of sexual development ISO RGD:1352441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 12156867 GPRC6A G protein-coupled receptor class C group 6 member A gene DOID:630 genetic disease ISO RGD:1352441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156867 GPRC6A G protein-coupled receptor class C group 6 member A gene DOID:9000495 Tremor ISO RGD:1352441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12156867 GPRC6A G protein-coupled receptor class C group 6 member A gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12156879 OR51B18 olfactory receptor family 51 subfamily B member 18 gene DOID:630 genetic disease ISO RGD:1351923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156882 TMEM86A transmembrane protein 86A gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1601825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 12156882 TMEM86A transmembrane protein 86A gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1601825 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 12156882 TMEM86A transmembrane protein 86A gene DOID:1059 intellectual disability ISO RGD:1601825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12156882 TMEM86A transmembrane protein 86A gene DOID:630 genetic disease ISO RGD:1601825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156892 TGIF2 TGFB induced factor homeobox 2 gene DOID:2234 focal epilepsy ISO RGD:1344249 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12156892 TGIF2 TGFB induced factor homeobox 2 gene DOID:630 genetic disease ISO RGD:1344249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156916 CCDC6 coiled-coil domain containing 6 gene DOID:10652 Alzheimer's disease ISO RGD:1344180 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 12156916 CCDC6 coiled-coil domain containing 6 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1344180 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12156916 CCDC6 coiled-coil domain containing 6 gene DOID:630 genetic disease ISO RGD:1344180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156929 MFAP3 microfibril associated protein 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350797 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12156929 MFAP3 microfibril associated protein 3 gene DOID:630 genetic disease ISO RGD:1350797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156929 MFAP3 microfibril associated protein 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350797 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12156936 CACNG3 calcium voltage-gated channel auxiliary subunit gamma 3 gene DOID:1825 childhood absence epilepsy ISO RGD:736548 D RGD:9068941 20200609 RGD PMID:11904235|REF_RGD_ID:728397 12156936 CACNG3 calcium voltage-gated channel auxiliary subunit gamma 3 gene DOID:4448 macular degeneration susceptibility ISO RGD:736548 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:21169531|REF_RGD_ID:13524556 12156936 CACNG3 calcium voltage-gated channel auxiliary subunit gamma 3 gene DOID:630 genetic disease ISO RGD:736548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156944 OPHN1 oligophrenin 1 gene DOID:0050888 syndromic intellectual disability ISO RGD:1557080 D RGD:9068941 20220825 MouseDO OMIM:300486 | OMIM:300860 | OMIM:309583 12156944 OPHN1 oligophrenin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1345567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12156944 OPHN1 oligophrenin 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12156944 OPHN1 oligophrenin 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1345567 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:31474318 12156944 OPHN1 oligophrenin 1 gene DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance ISO RGD:1345567 D RGD:7240710 20180130 OMIM 12156944 OPHN1 oligophrenin 1 gene DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance ISO RGD:1345567 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BILLUART TYPE | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 60 PMID:10818214|PMID:12807966|PMID:16199547|PMID:16221952|PMID:18414213|PMID:20528889|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32238909|PMID:34906502|PMID:9582072 12156944 OPHN1 oligophrenin 1 gene DOID:1059 intellectual disability ISO RGD:1345567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12156944 OPHN1 oligophrenin 1 gene DOID:12849 autistic disorder ISO RGD:1345567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12156944 OPHN1 oligophrenin 1 gene DOID:14737 craniofrontonasal syndrome ISO RGD:1345567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17941886 12156944 OPHN1 oligophrenin 1 gene DOID:1826 epilepsy ISO RGD:1345567 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure 12156944 OPHN1 oligophrenin 1 gene DOID:630 genetic disease ISO RGD:1345567 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10818214|PMID:16221952|PMID:18414213|PMID:24105372|PMID:25741868|PMID:26467025|PMID:28492532 12156944 OPHN1 oligophrenin 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1345567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17941886 12156944 OPHN1 oligophrenin 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1345567 D RGD:9068941 20200609 RGD DNA:deletion:exon PMID:12805098|REF_RGD_ID:13207442 12156944 OPHN1 oligophrenin 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1345567 D RGD:9068941 20200609 RGD DNA:frameshift mutation:exon:p.P199_V200insEFSLLMNGLKIFIKCL (human) PMID:21796728|REF_RGD_ID:13207441 12156978 ARHGEF16 Rho guanine nucleotide exchange factor 16 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1347062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12156978 ARHGEF16 Rho guanine nucleotide exchange factor 16 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1347062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12156978 ARHGEF16 Rho guanine nucleotide exchange factor 16 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1347062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12156978 ARHGEF16 Rho guanine nucleotide exchange factor 16 gene DOID:0111934 immunodeficiency 38 ISO RGD:1347062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12156978 ARHGEF16 Rho guanine nucleotide exchange factor 16 gene DOID:0111935 immunodeficiency 16 ISO RGD:1347062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12156978 ARHGEF16 Rho guanine nucleotide exchange factor 16 gene DOID:630 genetic disease ISO RGD:1347062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12156978 ARHGEF16 Rho guanine nucleotide exchange factor 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12156978 ARHGEF16 Rho guanine nucleotide exchange factor 16 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1347062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12157009 RASSF1 Ras association domain family member 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24146755 12157009 RASSF1 Ras association domain family member 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12157009 RASSF1 Ras association domain family member 1 gene DOID:0050902 medulloblastoma ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21880625 12157009 RASSF1 Ras association domain family member 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12157009 RASSF1 Ras association domain family member 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1343966 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17960617|REF_RGD_ID:2299865 12157009 RASSF1 Ras association domain family member 1 gene DOID:11054 urinary bladder cancer ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15987713 12157009 RASSF1 Ras association domain family member 1 gene DOID:11054 urinary bladder cancer ISO RGD:1343966 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:18702824|REF_RGD_ID:2299860 12157009 RASSF1 Ras association domain family member 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19652091 12157009 RASSF1 Ras association domain family member 1 gene DOID:1395 schistosomiasis ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23527093 12157009 RASSF1 Ras association domain family member 1 gene DOID:1612 breast cancer ISO RGD:1343966 D RGD:9068941 20200609 RGD DNA, mRNA, protein:hypermethylation, decreased expression:promoter, breast PMID:18425370|REF_RGD_ID:2299869 12157009 RASSF1 Ras association domain family member 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1343966 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:18483325|REF_RGD_ID:2299868 12157009 RASSF1 Ras association domain family member 1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1343966 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:16545186|REF_RGD_ID:2299867 12157009 RASSF1 Ras association domain family member 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1343966 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, urinary bladder PMID:18480993|REF_RGD_ID:2299862 12157009 RASSF1 Ras association domain family member 1 gene DOID:2871 endometrial carcinoma ISO RGD:1343966 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, PMID:18469797|REF_RGD_ID:2299863 12157009 RASSF1 Ras association domain family member 1 gene DOID:299 adenocarcinoma ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15639718 12157009 RASSF1 Ras association domain family member 1 gene DOID:365 bladder disease ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23527093 12157009 RASSF1 Ras association domain family member 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18337602 12157009 RASSF1 Ras association domain family member 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1343966 D RGD:9068941 20220708 RGD DNA:hypermethylation PMID:27777637|REF_RGD_ID:152998954 12157009 RASSF1 Ras association domain family member 1 gene DOID:4362 cervical cancer ISO RGD:1343966 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections;DNA:hypermethylation:promoter PMID:18608185|REF_RGD_ID:2299861 12157009 RASSF1 Ras association domain family member 1 gene DOID:4450 renal cell carcinoma ISO RGD:1343966 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17645803|REF_RGD_ID:2299866 12157009 RASSF1 Ras association domain family member 1 gene DOID:630 genetic disease ISO RGD:1343966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157009 RASSF1 Ras association domain family member 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008439 12157009 RASSF1 Ras association domain family member 1 gene DOID:9003566 Mesothelioma ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12082623|PMID:15639718 12157009 RASSF1 Ras association domain family member 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18337602 12157009 RASSF1 Ras association domain family member 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26410583 12157009 RASSF1 Ras association domain family member 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12157023 SASH1 SAM and SH3 domain containing 1 gene DOID:3390 palmoplantar keratosis ISO RGD:1350407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma PMID:25315659 12157023 SASH1 SAM and SH3 domain containing 1 gene DOID:630 genetic disease ISO RGD:1350407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157023 SASH1 SAM and SH3 domain containing 1 gene DOID:9002761 Dyschromatosis Universalis Hereditaria 1 ISO RGD:1350407 D RGD:7240710 20190403 OMIM 12157023 SASH1 SAM and SH3 domain containing 1 gene DOID:9002761 Dyschromatosis Universalis Hereditaria 1 ISO RGD:1350407 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dyschromatosis universalis hereditaria 1 PMID:12190883|PMID:15150790|PMID:23333244|PMID:25741868|PMID:26203640|PMID:27659786|PMID:27840890|PMID:27885802|PMID:28492532|PMID:29956681|PMID:32981204 12157023 SASH1 SAM and SH3 domain containing 1 gene DOID:9008147 Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma ISO RGD:1350407 D RGD:7240710 20190424 OMIM 12157023 SASH1 SAM and SH3 domain containing 1 gene DOID:9008147 Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma ISO RGD:1350407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA PMID:25315659|PMID:25741868 12157054 PITPNB phosphatidylinositol transfer protein beta gene DOID:630 genetic disease ISO RGD:736239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157074 EN2 engrailed homeobox 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1343015 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25290267 12157074 EN2 engrailed homeobox 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1557783 D RGD:9068941 20220825 MouseDO 12157074 EN2 engrailed homeobox 2 gene DOID:0080855 Parkinsonism ISO RGD:1618434 D RGD:9068941 20200609 RGD PMID:17015829|REF_RGD_ID:5687199 12157074 EN2 engrailed homeobox 2 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1343015 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 12157074 EN2 engrailed homeobox 2 gene DOID:12849 autistic disorder ISO RGD:1343015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, 10 | ClinVar Annotator: match by term: Epsilon-trimethyllysine hydroxylase deficiency PMID:15024396|PMID:16252243|PMID:21681106|PMID:30208311 12157074 EN2 engrailed homeobox 2 gene DOID:12849 autistic disorder susceptibility ISO RGD:1343015 D RGD:9068941 20200806 RGD DNA:SNPs:intron:rs1861972, rs1861973(human) PMID:15024396|REF_RGD_ID:1358620 12157074 EN2 engrailed homeobox 2 gene DOID:630 genetic disease ISO RGD:1343015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157074 EN2 engrailed homeobox 2 gene DOID:9001661 Taste Disorders ISO RGD:1343015 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29953887 12157081 LONP1 lon peptidase 1, mitochondrial gene DOID:0111274 CODAS syndrome ISO RGD:734453 D RGD:7240710 20180130 OMIM 12157081 LONP1 lon peptidase 1, mitochondrial gene DOID:0111274 CODAS syndrome ISO RGD:734453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CODAS syndrome PMID:1887855|PMID:25574826|PMID:25741868|PMID:25741869|PMID:25808063|PMID:27878435|PMID:28492532|PMID:30304514|PMID:31636596|PMID:5574826 12157081 LONP1 lon peptidase 1, mitochondrial gene DOID:2316 brain ischemia ISO RGD:621598 D RGD:9068941 20200609 RGD PMID:12082077|REF_RGD_ID:633879 12157081 LONP1 lon peptidase 1, mitochondrial gene DOID:326 ischemia ISO RGD:621598 D RGD:9068941 20200609 RGD PMID:12082077|REF_RGD_ID:633879 12157081 LONP1 lon peptidase 1, mitochondrial gene DOID:630 genetic disease ISO RGD:734453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:5574826 12157081 LONP1 lon peptidase 1, mitochondrial gene DOID:83 cataract ISO RGD:734453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 12157081 LONP1 lon peptidase 1, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:1887855|PMID:25574826|PMID:25741868|PMID:28492532 12157081 LONP1 lon peptidase 1, mitochondrial gene DOID:9007661 Dwarfism ISO RGD:734453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:28492532 12157103 ZNF414 zinc finger protein 414 gene DOID:0080490 mucolipidosis type IV ISO RGD:1603942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 12157103 ZNF414 zinc finger protein 414 gene DOID:12849 autistic disorder ISO RGD:1603942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12157103 ZNF414 zinc finger protein 414 gene DOID:630 genetic disease ISO RGD:1603942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157113 MRGBP MRG domain binding protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12157113 MRGBP MRG domain binding protein gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1318486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12157113 MRGBP MRG domain binding protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12157113 MRGBP MRG domain binding protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1318486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12157113 MRGBP MRG domain binding protein gene DOID:1826 epilepsy ISO RGD:1318486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 12157113 MRGBP MRG domain binding protein gene DOID:630 genetic disease ISO RGD:1318486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157119 SLC25A47 solute carrier family 25 member 47 gene DOID:10283 prostate cancer ISO RGD:1345966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12157119 SLC25A47 solute carrier family 25 member 47 gene DOID:630 genetic disease ISO RGD:1345966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157119 SLC25A47 solute carrier family 25 member 47 gene DOID:684 hepatocellular carcinoma ISO RGD:1345966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12157129 TAS2R1 taste 2 receptor member 1 gene DOID:630 genetic disease ISO RGD:1352499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157141 OCEL1 occludin/ELL domain containing 1 gene DOID:630 genetic disease ISO RGD:1603010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157152 MIR34C microRNA mir-34c gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1348685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 12157152 MIR34C microRNA mir-34c gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1348685 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 12157152 MIR34C microRNA mir-34c gene DOID:1059 intellectual disability ISO RGD:1348685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12157152 MIR34C microRNA mir-34c gene DOID:12704 ataxia telangiectasia ISO RGD:1348685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12157152 MIR34C microRNA mir-34c gene DOID:14330 Parkinson's disease ISO RGD:1348685 D RGD:9068941 20200609 RGD PMID:21558425|REF_RGD_ID:10755477 12157152 MIR34C microRNA mir-34c gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 12157152 MIR34C microRNA mir-34c gene DOID:9003613 Laryngeal Neoplasms sexual_dimorphism ISO RGD:1348685 D RGD:9068941 20220825 RGD miRNA:increased expression:larynx epithelium (human) PMID:25266939|REF_RGD_ID:153344531 12157152 MIR34C microRNA mir-34c gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12157152 MIR34C microRNA mir-34c gene DOID:9005172 Lung Neoplasms ISO RGD:1348685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12157152 MIR34C microRNA mir-34c gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12157152 MIR34C microRNA mir-34c gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1348685 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24362009 12157152 MIR34C microRNA mir-34c gene DOID:9007787 Carcinoid Tumor ISO RGD:1348685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12157152 MIR34C microRNA mir-34c gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1348685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12157152 MIR34C microRNA mir-34c gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1348685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 12157164 SECTM1 secreted and transmembrane 1 gene DOID:630 genetic disease ISO RGD:1314321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1316171 D RGD:9068941 20220825 MouseDO OMIM:236670 | OMIM:253280 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:0060263 porencephaly ISO RGD:1316170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY | ClinVar Annotator: match by term: Hemiplegia, infantile, with porencephaly | ClinVar Annotator: match by term: Porencephaly PMID:16598045|PMID:17078022|PMID:17576681|PMID:17696175|PMID:17938367|PMID:18077766|PMID:19344236|PMID:19477666|PMID:20301768|PMID:20385946|PMID:20733150|PMID:21527998|PMID:21625620|PMID:22102590|PMID:22522439|PMID:22574627|PMID:22914737|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25719457|PMID:25741868|PMID:26310487|PMID:26362372|PMID:26467025|PMID:28492532|PMID:29602769|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:31857254|PMID:32033901|PMID:32515830|PMID:33353976|PMID:33527515|PMID:3691802|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9536098|PMID:9724608 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:0060648 anterior segment dysgenesis ISO RGD:1316170 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:17078022|PMID:19344236|PMID:25590979|PMID:25741868|PMID:28492532|PMID:30181649|PMID:32499604|PMID:7695699|PMID:8218237|PMID:9016532 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:0080205 CAKUT ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:28492532|PMID:31230195 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:0090125 brain small vessel disease 1 ISO RGD:1316170 D RGD:7240710 20190515 OMIM 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:0090125 brain small vessel disease 1 ISO RGD:1316170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: GOULD SYNDROME 1 | ClinVar Annotator: match by term: RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT PMID:10713126|PMID:10896941|PMID:12011424|PMID:15023374|PMID:15136694|PMID:15905400|PMID:16107487|PMID:16159887|PMID:16199547|PMID:16598045|PMID:17078022|PMID:17576681|PMID:17696175|PMID:17938367|PMID:18077766|PMID:19194877|PMID:19344236|PMID:19477666|PMID:20301768|PMID:20385946|PMID:20733150|PMID:21527998|PMID:21625620|PMID:22102590|PMID:2211826|PMID:22522439|PMID:22574627|PMID:22914737|PMID:23065703|PMID:23225343|PMID:23394911|PMID:24088041|PMID:24374867|PMID:24628545|PMID:25326635|PMID:25457163|PMID:25719457|PMID:25741868|PMID:25741869|PMID:26310487|PMID:26362372|PMID:26467025|PMID:26633545|PMID:28017902|PMID:28369186|PMID:28492532|PMID:29602769|PMID:29927466|PMID:30413629|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:31857254|PMID:32033901|PMID:32042920|PMID:32488064|PMID:32515830|PMID:32732225|PMID:32818659|PMID:33298904|PMID:33353976|PMID:33527515|PMID:34906502|PMID:3691802|PMID:6428250|PMID:7257746|PMID:7695699|PMID:8218237|PMID:9016532|PMID:906807|PMID:9536098|PMID:9724608 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:0090125 brain small vessel disease 1 ISO RGD:1316170 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: GOULD SYNDROME 1 | ClinVar Annotator: match by term: RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT PMID:10713126|PMID:10896941|PMID:12011424|PMID:15023374|PMID:15136694|PMID:15905400|PMID:16107487|PMID:16159887|PMID:16199547|PMID:16598045|PMID:17078022|PMID:17576681|PMID:17696175|PMID:17938367|PMID:18077766|PMID:19194877|PMID:19344236|PMID:19477666|PMID:20301768|PMID:20385946|PMID:20733150|PMID:21527998|PMID:21625620|PMID:22102590|PMID:2211826|PMID:22522439|PMID:22574627|PMID:22914737|PMID:23065703|PMID:23225343|PMID:23394911|PMID:24088041|PMID:24374867|PMID:24628545|PMID:25326635|PMID:25457163|PMID:25590979|PMID:25719457|PMID:25741868|PMID:25741869|PMID:26310487|PMID:26362372|PMID:26467025|PMID:26633545|PMID:28017902|PMID:28369186|PMID:28492532|PMID:29602769|PMID:29927466|PMID:30181649|PMID:30413629|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:31857254|PMID:32033901|PMID:32042920|PMID:32488064|PMID:32499604|PMID:32515830|PMID:32732225|PMID:32818659|PMID:33298904|PMID:33353976|PMID:33527515|PMID:34906502|PMID:3691802|PMID:6428250|PMID:7257746|PMID:7695699|PMID:8218237|PMID:9016532|PMID:906807|PMID:9536098|PMID:9724608 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:0111547 retinal arterial tortuosity ISO RGD:1316170 D RGD:7240710 20180130 OMIM 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:0111547 retinal arterial tortuosity ISO RGD:1316170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal arterial tortuosity | ClinVar Annotator: match by term: Retinal arteries, tortuosity of PMID:17576681|PMID:20818663|PMID:22574627|PMID:22914737|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25228067|PMID:25457163|PMID:25741868|PMID:26310487|PMID:26467025|PMID:28492532|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:33353976|PMID:33527515|PMID:3691802|PMID:9536098|PMID:9724608 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:0112313 brain small vessel disease ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16598045|PMID:17696175 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:0112314 brain small vessel disease 2 ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Porencephaly 2 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:10907 microcephaly ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:1184 nephrotic syndrome ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1281619 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16191423|PMID:18682491 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17696175|PMID:20385946 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:1826 epilepsy ISO RGD:1316170 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:1969 cerebral palsy ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:2222 factor X deficiency ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:557 kidney disease ISO RGD:1316171 D RGD:9068941 20220825 MouseDO 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:583 hemolytic anemia ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23225343 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:5844 myocardial infarction susceptibility ISO RGD:1316170 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.Q1334H (human) PMID:18077766|REF_RGD_ID:2311341 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:630 genetic disease ISO RGD:1316170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10713126|PMID:10896941|PMID:12011424|PMID:12525718|PMID:15882279|PMID:15905400|PMID:16107487|PMID:16374828|PMID:16598045|PMID:17576681|PMID:17696175|PMID:17938367|PMID:18160688|PMID:19194877|PMID:19840616|PMID:19949034|PMID:21625620|PMID:2211826|PMID:22574627|PMID:22914737|PMID:23065703|PMID:23394911|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:26220970|PMID:26467025|PMID:28492532|PMID:29801666|PMID:31051113|PMID:31230195|PMID:33353976|PMID:33527515|PMID:3691802|PMID:6428250|PMID:9536098|PMID:9724608 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:6432 pulmonary hypertension treatment ISO RGD:1307148 D RGD:9068941 20200609 RGD PMID:25867313|REF_RGD_ID:11041577 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:784 chronic kidney disease ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:83 cataract ISO RGD:1316170 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:17696175|PMID:20301768|PMID:25741868 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:8725 vascular dementia ISO RGD:1316170 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:28492532|PMID:33268848|PMID:35307828 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1316170 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:9001585 Intraventricular Hemorrhage ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intraventricular hemorrhage PMID:16598045|PMID:17078022|PMID:17938367|PMID:19344236|PMID:22102590|PMID:25741868|PMID:26362372|PMID:28492532|PMID:31857254|PMID:32033901|PMID:7695699|PMID:8218237|PMID:9016532 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1316170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:16199547|PMID:23225343|PMID:25741868|PMID:28492532 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:9002165 Diabetic Nephropathies ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18682491|PMID:27997345 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:9002165 Diabetic Nephropathies ISO RGD:1316171 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17582205|REF_RGD_ID:2311342 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:9002165 Diabetic Nephropathies ISO RGD:1316171 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent;mRNA:increased expression:kidney PMID:19466391|REF_RGD_ID:2311340 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:9002417 Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant ISO RGD:1316170 D RGD:7240710 20191016 OMIM 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:9002417 Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant ISO RGD:1316170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DEMENTIA, HEREDITARY MULTI-INFARCT, SWEDISH TYPE | ClinVar Annotator: match by term: Microangiopathy and leukoencephalopathy, pontine, autosomal dominant PMID:15221337|PMID:17576681|PMID:22574627|PMID:22914737|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25326635|PMID:25425218|PMID:25457163|PMID:25741868|PMID:26310487|PMID:26467025|PMID:27666438|PMID:28369186|PMID:28492532|PMID:30413629|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:33353976|PMID:33527515|PMID:3691802|PMID:906807|PMID:9536098|PMID:9724608 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1316170 D RGD:7240710 20230505 OMIM 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1316170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intracerebral hemorrhage | ClinVar Annotator: match by term: Stroke, hemorrhagic, susceptibility to PMID:16159887|PMID:17576681|PMID:21625620|PMID:22522439|PMID:22574627|PMID:22914737|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:26310487|PMID:26467025|PMID:28492532|PMID:30413629|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:33353976|PMID:33527515|PMID:3691802|PMID:9536098|PMID:9724608 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:9002704 Leukoencephalopathies ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20385946 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intracranial Hemorrhages PMID:16598045|PMID:17078022|PMID:17938367|PMID:19344236|PMID:22102590|PMID:25741868|PMID:26362372|PMID:28492532|PMID:31857254|PMID:32033901|PMID:7695699|PMID:8218237|PMID:9016532 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:9003443 Central Nervous System Vascular Malformations ISO RGD:1316170 D RGD:9068941 20200609 RGD DNA:snp:cds:p.G562E (human) PMID:16598045|REF_RGD_ID:1581204 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:9003443 Central Nervous System Vascular Malformations ISO RGD:1316171 D RGD:9068941 20200609 RGD PMID:16598045|REF_RGD_ID:1581204 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:9003529 Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps ISO RGD:1316170 D RGD:7240710 20180130 OMIM 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:9003529 Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps ISO RGD:1316170 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | ClinVar Annotator: match by term: HANAC-like syndrome PMID:16159887|PMID:17030722|PMID:17078022|PMID:17576681|PMID:18077766|PMID:18160688|PMID:1867713|PMID:19344236|PMID:19477666|PMID:20301768|PMID:20385946|PMID:20733150|PMID:20818663|PMID:21527998|PMID:21625620|PMID:22522439|PMID:22574627|PMID:22914737|PMID:23065703|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25228067|PMID:25457163|PMID:25741868|PMID:26310487|PMID:26467025|PMID:27794444|PMID:28492532|PMID:29602769|PMID:30413629|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:31915071|PMID:31922066|PMID:33353976|PMID:33527515|PMID:33532864|PMID:3691802|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9536098|PMID:9724608 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:9006637 Schizencephaly ISO RGD:1316170 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: SCHIZENCEPHALY PMID:25741868|PMID:28492532 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:9007096 Stroke ISO RGD:1316170 D RGD:9068941 20200609 RGD PMID:16374828|REF_RGD_ID:1581205 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:9008296 Eye Abnormalities ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20385946 12157231 COL4A1 collagen type IV alpha 1 chain gene DOID:9775 diastolic heart failure ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12157286 FKBP3 FKBP prolyl isomerase 3 gene DOID:13636 Fanconi anemia ISO RGD:1312751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29895858|PMID:30075111 12157286 FKBP3 FKBP prolyl isomerase 3 gene DOID:630 genetic disease ISO RGD:1312751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157286 FKBP3 FKBP prolyl isomerase 3 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1312751 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12157297 GRM2 glutamate metabotropic receptor 2 gene DOID:3328 temporal lobe epilepsy ISO RGD:732930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18804094 12157297 GRM2 glutamate metabotropic receptor 2 gene DOID:5419 schizophrenia ISO RGD:732930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18923069 12157297 GRM2 glutamate metabotropic receptor 2 gene DOID:630 genetic disease ISO RGD:732930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157297 GRM2 glutamate metabotropic receptor 2 gene DOID:670 amphetamine abuse ISO RGD:732930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20211215 12157297 GRM2 glutamate metabotropic receptor 2 gene DOID:8646 substance-induced psychosis ISO RGD:732930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20211215 12157297 GRM2 glutamate metabotropic receptor 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:2743 D RGD:9068941 20200821 RGD knockout compared to wild type PMID:28700935|REF_RGD_ID:38501064 12157297 GRM2 glutamate metabotropic receptor 2 gene DOID:9976 heroin dependence ISO RGD:2743 D RGD:9068941 20200814 RGD PMID:30283001|REF_RGD_ID:38501063 12157317 PDCD1 programmed cell death 1 gene DOID:0040083 Chlamydia pneumonia ISO RGD:1323232 D RGD:9068941 20210219 RGD mRNA:increased expression:lung PMID:26378990|REF_RGD_ID:41412180 12157317 PDCD1 programmed cell death 1 gene DOID:0040084 Streptococcus pneumonia treatment ISO RGD:1323232 D RGD:9068941 20201203 RGD PMID:25624454|REF_RGD_ID:40818422 12157317 PDCD1 programmed cell death 1 gene DOID:0060081 triple-receptor negative breast cancer treatment ISO RGD:1323232 D RGD:9068941 20201117 RGD PMID:32194569|REF_RGD_ID:40818259 12157317 PDCD1 programmed cell death 1 gene DOID:0080159 cryptococcal meningitis treatment ISO RGD:1323231 D RGD:9068941 20210219 RGD PMID:29058791|REF_RGD_ID:41412178 12157317 PDCD1 programmed cell death 1 gene DOID:0080159 cryptococcal meningitis treatment ISO RGD:1323232 D RGD:9068941 20210219 RGD PMID:29058791|REF_RGD_ID:41412178 12157317 PDCD1 programmed cell death 1 gene DOID:0080162 lupus nephritis ISO RGD:1323231 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:15934088|REF_RGD_ID:7248675 12157317 PDCD1 programmed cell death 1 gene DOID:0080162 lupus nephritis ISO RGD:1323231 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:6867 C>T (human) PMID:15352422|REF_RGD_ID:7248676 12157317 PDCD1 programmed cell death 1 gene DOID:0080162 lupus nephritis onset ISO RGD:1323232 D RGD:9068941 20200609 RGD PMID:21041733|REF_RGD_ID:7248678 12157317 PDCD1 programmed cell death 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1323231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12157317 PDCD1 programmed cell death 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1323231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12157317 PDCD1 programmed cell death 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1323231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12157317 PDCD1 programmed cell death 1 gene DOID:10534 stomach cancer ISO RGD:1323231 D RGD:9068941 20210212 RGD associated with Epstein-Barr Virus Infections PMID:27465786|REF_RGD_ID:41410790 12157317 PDCD1 programmed cell death 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1323231 D RGD:9068941 20201113 RGD PMID:32380498|REF_RGD_ID:40818238 12157317 PDCD1 programmed cell death 1 gene DOID:1059 intellectual disability ISO RGD:1323231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12157317 PDCD1 programmed cell death 1 gene DOID:10591 pre-eclampsia ISO RGD:1323231 D RGD:9068941 20201203 RGD protein:increased expression:Treg cell PMID:27277012|REF_RGD_ID:40886269 12157317 PDCD1 programmed cell death 1 gene DOID:10591 pre-eclampsia treatment ISO RGD:1311658 D RGD:9068941 20201203 RGD PMID:27277012|REF_RGD_ID:40886269 12157317 PDCD1 programmed cell death 1 gene DOID:11111 hydronephrosis ISO RGD:1332447 D RGD:9068941 20200609 RGD PMID:16352741|REF_RGD_ID:7248681 12157317 PDCD1 programmed cell death 1 gene DOID:11168 anogenital venereal wart ISO RGD:1323231 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 12157317 PDCD1 programmed cell death 1 gene DOID:12155 lymphocytic choriomeningitis ISO RGD:1323232 D RGD:9068941 20210219 RGD PMID:23230000|REF_RGD_ID:41410802 12157317 PDCD1 programmed cell death 1 gene DOID:12155 lymphocytic choriomeningitis treatment ISO RGD:1323232 D RGD:9068941 20201112 RGD PMID:30726291|REF_RGD_ID:40818232 12157317 PDCD1 programmed cell death 1 gene DOID:12361 Graves' disease ISO RGD:1323231 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 12157317 PDCD1 programmed cell death 1 gene DOID:12549 hepatitis A disease_progression ISO RGD:1323231 D RGD:9068941 20201120 RGD PMID:26347518|REF_RGD_ID:40818419 12157317 PDCD1 programmed cell death 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1323231 D RGD:9068941 20201112 RGD protein:increased expression: CD8 Tcell from nasal wash: PMID:25465101|REF_RGD_ID:11056952 12157317 PDCD1 programmed cell death 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1323232 D RGD:9068941 20201112 RGD protein:increased expression:CD4 Tcell, CD8 Tcell from lung: PMID:25465101|REF_RGD_ID:11056952 12157317 PDCD1 programmed cell death 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1323232 D RGD:9068941 20200609 RGD PMID:14595408|REF_RGD_ID:9589058 12157317 PDCD1 programmed cell death 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1323232 D RGD:9068941 20220825 MouseDO 12157317 PDCD1 programmed cell death 1 gene DOID:14115 toxic shock syndrome ISO RGD:1323231 D RGD:9068941 20201203 RGD protein:increased expression:serum PMID:29702526|REF_RGD_ID:40822808 12157317 PDCD1 programmed cell death 1 gene DOID:14115 toxic shock syndrome severity ISO RGD:1323231 D RGD:9068941 20210212 RGD protein:increased expression:lymphocyte, mononcyte PMID:26063974|REF_RGD_ID:41410786 12157317 PDCD1 programmed cell death 1 gene DOID:1679 cystitis ISO RGD:1323232 D RGD:9068941 20200609 RGD PMID:22432050|REF_RGD_ID:7248677 12157317 PDCD1 programmed cell death 1 gene DOID:1731 histoplasmosis treatment ISO RGD:1323232 D RGD:9068941 20201203 RGD PMID:18268348|REF_RGD_ID:40822806 12157317 PDCD1 programmed cell death 1 gene DOID:1883 hepatitis C disease_progression ISO RGD:1323231 D RGD:9068941 20201112 RGD DNA:SNP:3' UTR:rs10204525(human) PMID:25747035|REF_RGD_ID:11052797 12157317 PDCD1 programmed cell death 1 gene DOID:1909 melanoma ISO RGD:1323231 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21802280 12157317 PDCD1 programmed cell death 1 gene DOID:1909 melanoma treatment ISO RGD:1323232 D RGD:9068941 20201117 RGD associated with influenza PMID:27760326|REF_RGD_ID:40818261 12157317 PDCD1 programmed cell death 1 gene DOID:2043 hepatitis B disease_progression ISO RGD:1323231 D RGD:9068941 20201117 RGD PMID:31770816|REF_RGD_ID:40818272 12157317 PDCD1 programmed cell death 1 gene DOID:2043 hepatitis B disease_progression ISO RGD:1323231 D RGD:9068941 20201203 RGD DNA:SNPs,halptype: :rs36084323, rs2227981,rs2227982(human) PMID:28667037|REF_RGD_ID:40818414 12157317 PDCD1 programmed cell death 1 gene DOID:2043 hepatitis B susceptibility ISO RGD:1323231 D RGD:9068941 20201203 RGD DNA:SNP: :rs2227981(human) PMID:29786123|REF_RGD_ID:40818423 12157317 PDCD1 programmed cell death 1 gene DOID:2048 autoimmune hepatitis ISO RGD:1323231 D RGD:9068941 20201113 RGD PMID:23869988|REF_RGD_ID:40818236 12157317 PDCD1 programmed cell death 1 gene DOID:2048 autoimmune hepatitis ISO RGD:1323232 D RGD:9068941 20210219 RGD PMID:19781375|REF_RGD_ID:41412171 12157317 PDCD1 programmed cell death 1 gene DOID:2237 hepatitis ISO RGD:1323231 D RGD:9068941 20201203 RGD protein:increased expression: leukocyte PMID:19739236|REF_RGD_ID:40818425 12157317 PDCD1 programmed cell death 1 gene DOID:2377 multiple sclerosis ISO RGD:1323231 D RGD:7240710 20230510 OMIM 12157317 PDCD1 programmed cell death 1 gene DOID:2377 multiple sclerosis ISO RGD:1323231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple sclerosis modifier of disease progression PMID:12402038|PMID:15912506 12157317 PDCD1 programmed cell death 1 gene DOID:2841 asthma treatment ISO RGD:1323232 D RGD:9068941 20210219 RGD associated with Chlamydia pneumonia PMID:26378990|REF_RGD_ID:41412180 12157317 PDCD1 programmed cell death 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:1323231 D RGD:9068941 20201127 RGD protein:increased expression:Tcell, B cell, monocyte PMID:23661793|REF_RGD_ID:40818418 12157317 PDCD1 programmed cell death 1 gene DOID:2957 pulmonary tuberculosis treatment ISO RGD:1323231 D RGD:9068941 20201127 RGD PMID:23661793|REF_RGD_ID:40818418 12157317 PDCD1 programmed cell death 1 gene DOID:3951 acute myocarditis severity ISO RGD:1323232 D RGD:9068941 20201203 RGD associated with Coxsackievirus Infections; PMID:17434153|REF_RGD_ID:40822819 12157317 PDCD1 programmed cell death 1 gene DOID:3951 acute myocarditis treatment ISO RGD:1323232 D RGD:9068941 20201203 RGD associated with Coxsackievirus Infections; PMID:17434153|REF_RGD_ID:40822819 12157317 PDCD1 programmed cell death 1 gene DOID:399 tuberculosis treatment ISO RGD:1323231 D RGD:9068941 20210219 RGD PMID:27865385|REF_RGD_ID:41412174 12157317 PDCD1 programmed cell death 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1323231 D RGD:9068941 20200609 RGD PMID:17363529|REF_RGD_ID:7248680 12157317 PDCD1 programmed cell death 1 gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:1311658 D RGD:9068941 20200609 RGD PMID:21965585|REF_RGD_ID:7248671 12157317 PDCD1 programmed cell death 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1323231 D RGD:9068941 20210219 RGD PMID:30161254|REF_RGD_ID:41412179 12157317 PDCD1 programmed cell death 1 gene DOID:630 genetic disease ISO RGD:1323231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157317 PDCD1 programmed cell death 1 gene DOID:646 viral encephalitis ISO RGD:1323232 D RGD:9068941 20201113 RGD protein:increased expression: CD8 T celll PMID:31105690|REF_RGD_ID:40818239 12157317 PDCD1 programmed cell death 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1323231 D RGD:9068941 20201117 RGD associated with hepatitis B;DNA:SNP: : +8669 A>G (human) PMID:27034168|REF_RGD_ID:40818257 12157317 PDCD1 programmed cell death 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1323231 D RGD:9068941 20210219 RGD associated with hepatitis B PMID:21912640|REF_RGD_ID:41410800 12157317 PDCD1 programmed cell death 1 gene DOID:820 myocarditis ISO RGD:1323232 D RGD:9068941 20200609 RGD PMID:21357717|REF_RGD_ID:9589065 12157317 PDCD1 programmed cell death 1 gene DOID:824 periodontitis ISO RGD:1311658 D RGD:9068941 20201203 RGD protein:increased expression:periodontium PMID:32346701|REF_RGD_ID:40886271 12157317 PDCD1 programmed cell death 1 gene DOID:8991 cervix uteri carcinoma in situ severity ISO RGD:1323231 D RGD:9068941 20201203 RGD associated with Papillomavirus Infections; protein:increased expression:T cell PMID:23521696|REF_RGD_ID:40822817 12157317 PDCD1 programmed cell death 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1311658 D RGD:9068941 20201203 RGD PMID:29665726|REF_RGD_ID:40886268 12157317 PDCD1 programmed cell death 1 gene DOID:9001228 Fungemia ISO RGD:1323232 D RGD:9068941 20201112 RGD protein:increased expression:CD4 Tcell, CD8 Tcell: PMID:23663657|REF_RGD_ID:40818234 12157317 PDCD1 programmed cell death 1 gene DOID:9001228 Fungemia treatment ISO RGD:1323232 D RGD:9068941 20201112 RGD PMID:23663657|REF_RGD_ID:40818234 12157317 PDCD1 programmed cell death 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1323231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12157317 PDCD1 programmed cell death 1 gene DOID:9001953 Pneumovirus Infections treatment ISO RGD:1323232 D RGD:9068941 20201203 RGD associated with reinfection PMID:25339663|REF_RGD_ID:40822811 12157317 PDCD1 programmed cell death 1 gene DOID:9002433 Schistosomiasis Japonica ISO RGD:1323231 D RGD:9068941 20201127 RGD protein:increased expression:CD4 T cell PMID:27792733|REF_RGD_ID:40818413 12157317 PDCD1 programmed cell death 1 gene DOID:9002433 Schistosomiasis Japonica ISO RGD:1323232 D RGD:9068941 20201203 RGD protein:increased expression:CD4 T cell PMID:27792733|REF_RGD_ID:40818413 12157317 PDCD1 programmed cell death 1 gene DOID:9002433 Schistosomiasis Japonica severity ISO RGD:1323232 D RGD:9068941 20201203 RGD PMID:27792733|REF_RGD_ID:40818413 12157317 PDCD1 programmed cell death 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis susceptibility ISO RGD:1323232 D RGD:9068941 20201117 RGD PMID:24648472|REF_RGD_ID:40818258 12157317 PDCD1 programmed cell death 1 gene DOID:9002780 Recurrent Respiratory Papillomatosis ISO RGD:1323231 D RGD:9068941 20201203 RGD PMID:22322668|REF_RGD_ID:40822813 12157317 PDCD1 programmed cell death 1 gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:1323232 D RGD:9068941 20200609 RGD PMID:19208793|REF_RGD_ID:9589070 12157317 PDCD1 programmed cell death 1 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:1323232 D RGD:9068941 20200609 RGD PMID:19208793|REF_RGD_ID:9589070 12157317 PDCD1 programmed cell death 1 gene DOID:9004283 Transplant Rejection ISO RGD:1323232 D RGD:9068941 20200609 RGD PMID:17198268|PMID:17489865|REF_RGD_ID:9589060|REF_RGD_ID:9589063 12157317 PDCD1 programmed cell death 1 gene DOID:9004283 Transplant Rejection severity ISO RGD:1323231 D RGD:9068941 20200609 RGD mRNA:increased expression:leukocytes, Mononuclear: PMID:21518556|REF_RGD_ID:7248673 12157317 PDCD1 programmed cell death 1 gene DOID:9004484 Sepsis ISO RGD:1323231 D RGD:9068941 20201112 RGD protein:increased expression:T cell PMID:30595665|REF_RGD_ID:40818235 12157317 PDCD1 programmed cell death 1 gene DOID:9004484 Sepsis ISO RGD:1323231 D RGD:9068941 20201203 RGD protein:increased expression:B cell,CD4T cell PMID:29661225|REF_RGD_ID:40818424 12157317 PDCD1 programmed cell death 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:1323231 D RGD:9068941 20201203 RGD PMID:29702526|REF_RGD_ID:40822808 12157317 PDCD1 programmed cell death 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:1323231 D RGD:9068941 20210219 RGD protein:increased expression:T cell PMID:27156867|REF_RGD_ID:41412183 12157317 PDCD1 programmed cell death 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:1323232 D RGD:9068941 20201117 RGD PMID:19332785|REF_RGD_ID:40818273 12157317 PDCD1 programmed cell death 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1323231 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:34166680 12157317 PDCD1 programmed cell death 1 gene DOID:9006262 Cytomegalovirus Infections susceptibility ISO RGD:1323231 D RGD:9068941 20201203 RGD associated with kidney transplantation; DNA:SNP: :rs11568821(human) PMID:19581275|REF_RGD_ID:40818426 12157317 PDCD1 programmed cell death 1 gene DOID:9006925 Hepatic Echinococcosis ISO RGD:1323232 D RGD:9068941 20210219 RGD mRNA, protein:increased expression:liver PMID:25907244|REF_RGD_ID:41412175 12157317 PDCD1 programmed cell death 1 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1323232 D RGD:9068941 20201117 RGD protein:increased expression:CD8 T cell PMID:22797302|REF_RGD_ID:40818270 12157317 PDCD1 programmed cell death 1 gene DOID:9008114 Helicobacter Infections severity ISO RGD:1323231 D RGD:9068941 20201203 RGD PMID:21562113|REF_RGD_ID:40818417 12157317 PDCD1 programmed cell death 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1323231 D RGD:9068941 20200806 RGD mRNA:increased expression:liver parenchyma (human) PMID:22634051|REF_RGD_ID:36947881 12157317 PDCD1 programmed cell death 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1323231 D RGD:9068941 20201117 RGD DNA:SNP:exon: PMID:20700634|REF_RGD_ID:40818262 12157317 PDCD1 programmed cell death 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1323231 D RGD:9068941 20201203 RGD protein:altered expression:serum: PMID:28983583|REF_RGD_ID:40818415 12157317 PDCD1 programmed cell death 1 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:1323231 D RGD:9068941 20201112 RGD DNA:SNP:3' UTR:rs10204525(human) PMID:30016557|REF_RGD_ID:40818231 12157317 PDCD1 programmed cell death 1 gene DOID:9008163 Chronic Hepatitis B no_association ISO RGD:1323231 D RGD:9068941 20201112 RGD DNA:SNPs::+7146 G>A,+7209 C>T(human) PMID:25736598|REF_RGD_ID:40818233 12157317 PDCD1 programmed cell death 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1311658 D RGD:9068941 20200609 RGD protein:increased expression:colonic mucosa, lymphocyte PMID:24165459|REF_RGD_ID:9589083 12157317 PDCD1 programmed cell death 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1323231 D RGD:7240710 20230510 OMIM 12157317 PDCD1 programmed cell death 1 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1323232 D RGD:9068941 20210212 RGD PMID:26712908|REF_RGD_ID:41410789 12157317 PDCD1 programmed cell death 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1323232 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:23219834|REF_RGD_ID:7248672 12157317 Pdcd1 programmed cell death 1 gene DOID:9007730 Burns treatment ISO RGD:1323232 D RGD:9068941 20210212 RGD associated with Pseudomonas Infections PMID:29345058|REF_RGD_ID:41410788 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:0050562 West syndrome ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile spasms | ClinVar Annotator: match by term: West syndrome PMID:16813600|PMID:18414213|PMID:18790821|PMID:21775177|PMID:22867051|PMID:25741868|PMID:28492532 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1353625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:0060825 Christianson syndrome ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome-like PMID:15499549|PMID:16015284|PMID:16813600|PMID:18414213|PMID:19241098|PMID:19564592|PMID:20397747|PMID:20479760|PMID:21160487|PMID:21775177|PMID:22867051|PMID:23064044|PMID:25741868|PMID:26467025|PMID:28492532 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:0060825 Christianson syndrome ISO RGD:1353625 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Angelman syndrome-like PMID:15499549|PMID:16813600|PMID:18414213|PMID:19241098|PMID:19564592|PMID:20397747|PMID:20479760|PMID:21160487|PMID:21775177|PMID:22867051|PMID:25741868|PMID:26467025|PMID:28492532 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 PMID:25741868 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1353625 D RGD:7240710 20180314 OMIM 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1353625 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CDKL5 disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 PMID:10533068|PMID:15492925|PMID:15499549|PMID:15689447|PMID:15917271|PMID:16015284|PMID:16199547|PMID:16326141|PMID:16330482|PMID:16611748|PMID:16813600|PMID:17256798|PMID:17304053|PMID:17546640|PMID:17576681|PMID:17993579|PMID:18063413|PMID:18076117|PMID:18266744|PMID:18414213|PMID:18564362|PMID:18790821|PMID:18809835|PMID:19161156|PMID:19241098|PMID:19253388|PMID:19362436|PMID:19396824|PMID:19428276|PMID:19471977|PMID:19564592|PMID:19740913|PMID:19763152|PMID:19780792|PMID:19793311|PMID:19807736|PMID:20307669|PMID:20397747|PMID:20479760|PMID:20493745|PMID:20602487|PMID:20848651|PMID:21160487|PMID:21293276|PMID:21309761|PMID:21318334|PMID:21765152|PMID:21770923|PMID:21775177|PMID:21802232|PMID:22264704|PMID:22406018|PMID:22430159|PMID:22670135|PMID:22678952|PMID:22779007|PMID:22812903|PMID:22832775|PMID:22867051|PMID:22872100|PMID:22922712|PMID:22982301|PMID:23064044|PMID:23151060|PMID:23184456|PMID:23236174|PMID:23238081|PMID:23242510|PMID:23262346|PMID:23583054|PMID:23647072|PMID:23708187|PMID:23756444|PMID:23828526|PMID:23934111|PMID:24564546|PMID:24715584|PMID:25266480|PMID:25315662|PMID:25326635|PMID:25640679|PMID:25657822|PMID:25741868|PMID:25819767|PMID:26112015|PMID:26271793|PMID:26467025|PMID:26482601|PMID:26544041|PMID:26993267|PMID:27081548|PMID:27187038|PMID:27265524|PMID:27334371|PMID:27391121|PMID:27599155|PMID:27770071|PMID:27779742|PMID:27823948|PMID:27824329|PMID:27848944|PMID:28074849|PMID:28386848|PMID:28492532|PMID:28837158|PMID:29095814|PMID:29100083|PMID:29186148|PMID:29190809|PMID:29264392|PMID:29390993|PMID:29420175|PMID:29444904|PMID:29655203|PMID:29852413|PMID:30182498|PMID:30266825|PMID:30460546|PMID:30624022|PMID:30776697|PMID:30898514|PMID:30945278|PMID:30945684|PMID:31031587|PMID:31313283|PMID:31492455|PMID:31690835|PMID:31780880|PMID:31791873|PMID:33436160|PMID:33538404|PMID:34229227|PMID:9536098 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:0080467 developmental and epileptic encephalopathy 2 severity ISO RGD:1353625 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:22678952|REF_RGD_ID:12791015 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1353625 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1353625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:1059 intellectual disability ISO RGD:1353625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18809835|PMID:19362436|PMID:19793311|PMID:21770923|PMID:22430159|PMID:22670135|PMID:22678952|PMID:22872100|PMID:25657822|PMID:25741868|PMID:26271793|PMID:26482601|PMID:26993267|PMID:28492532|PMID:29100083|PMID:30182498|PMID:30460546 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:11832 visual epilepsy ISO RGD:1353625 D RGD:9068941 20220728 RGD DNA:deletion, missense, nonsense mutations:cds: PMID:22264704|REF_RGD_ID:12791013 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:1206 Rett syndrome ISO RGD:1353625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:16015284|PMID:18414213|PMID:19241098|PMID:19396824|PMID:25657822|PMID:27779742|PMID:28074849|PMID:28492532|PMID:30266825 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:12849 autistic disorder ISO RGD:1353625 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autism PMID:15492925|PMID:20479760|PMID:21681106|PMID:28492532|PMID:29264392|PMID:30208311 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:1826 epilepsy ISO RGD:1353625 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:1932 Angelman syndrome ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:25741868 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:2234 focal epilepsy ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:25741868 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1353625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:630 genetic disease ISO RGD:1353625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10234514|PMID:10533068|PMID:10922205|PMID:12746437|PMID:16015284|PMID:18414213|PMID:18809835|PMID:19324861|PMID:19362436|PMID:19390641|PMID:19793311|PMID:20061330|PMID:20479760|PMID:20809529|PMID:21770923|PMID:21775177|PMID:22264704|PMID:22430159|PMID:22670135|PMID:22678952|PMID:22779007|PMID:22867051|PMID:22872100|PMID:23064044|PMID:23151060|PMID:23288992|PMID:23583054|PMID:23708187|PMID:23756444|PMID:25657822|PMID:25741868|PMID:26112015|PMID:26271793|PMID:26467025|PMID:26482601|PMID:26993267|PMID:27599155|PMID:27781031|PMID:27788217|PMID:27824329|PMID:28272453|PMID:28492532|PMID:29100083|PMID:29264392|PMID:29851975|PMID:30182498|PMID:30460546|PMID:30652005|PMID:31087526|PMID:33460243|PMID:33781268|PMID:34624300|PMID:35456481|PMID:618178|PMID:9618178 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:8465 retinoschisis ISO RGD:1353625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Juvenile retinoschisis | ClinVar Annotator: match by term: Retinoschisis PMID:10220153|PMID:10234514|PMID:10450864|PMID:10533068|PMID:10589241|PMID:10636421|PMID:10636429|PMID:10636740|PMID:10922205|PMID:10947001|PMID:11295123|PMID:12417531|PMID:12746437|PMID:12782284|PMID:12920343|PMID:12928282|PMID:15281981|PMID:15531314|PMID:15932525|PMID:15937075|PMID:16167295|PMID:16272055|PMID:16361673|PMID:16900931|PMID:17296904|PMID:17304551|PMID:17515881|PMID:17525175|PMID:17576681|PMID:17615541|PMID:17631851|PMID:17987333|PMID:18369700|PMID:18541843|PMID:18690710|PMID:18834580|PMID:19093009|PMID:19324861|PMID:19390641|PMID:19849666|PMID:20061330|PMID:20801516|PMID:20806044|PMID:20809529|PMID:21701876|PMID:22039241|PMID:22110067|PMID:22245991|PMID:22332228|PMID:23288992|PMID:23453514|PMID:23514609|PMID:23568735|PMID:23847049|PMID:24505212|PMID:24634885|PMID:25525159|PMID:25741868|PMID:25799783|PMID:25999676|PMID:26356828|PMID:26872967|PMID:27032803|PMID:27246168|PMID:27788217|PMID:28221463|PMID:28272453|PMID:28348004|PMID:28450823|PMID:28492532|PMID:28559085|PMID:29081674|PMID:29851975|PMID:29902095|PMID:30450322|PMID:30551202|PMID:30652005|PMID:30923717|PMID:31087526|PMID:31456290|PMID:31725702|PMID:33460243|PMID:33546218|PMID:33781268|PMID:34624300|PMID:35456481|PMID:618178|PMID:6361673|PMID:9326935|PMID:9536098|PMID:9618178|PMID:9760195 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:8501 fundus dystrophy ISO RGD:1353625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10220153|PMID:10234514|PMID:10533068|PMID:10589241|PMID:10636421|PMID:10636740|PMID:10922205|PMID:10947001|PMID:12417531|PMID:12746437|PMID:12920343|PMID:12928282|PMID:15932525|PMID:15937075|PMID:16167295|PMID:16361673|PMID:16900931|PMID:17172462|PMID:17296904|PMID:17304551|PMID:17515881|PMID:17576681|PMID:17615541|PMID:17987333|PMID:18369700|PMID:18541843|PMID:18834580|PMID:19093009|PMID:19324861|PMID:19390641|PMID:20061330|PMID:20809529|PMID:21701876|PMID:22110067|PMID:22245991|PMID:22332228|PMID:23288992|PMID:23453514|PMID:23514609|PMID:23568735|PMID:23847049|PMID:24634885|PMID:25525159|PMID:25741868|PMID:25799783|PMID:26356828|PMID:26872967|PMID:27032803|PMID:27246168|PMID:27788217|PMID:28221463|PMID:28272453|PMID:28348004|PMID:28492532|PMID:28559085|PMID:29851975|PMID:29902095|PMID:30551202|PMID:30652005|PMID:30923717|PMID:31087526|PMID:31725702|PMID:33460243|PMID:33546218|PMID:33781268|PMID:34624300|PMID:35456481|PMID:618178|PMID:9326935|PMID:9536098|PMID:9618178|PMID:9760195 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:17172462|PMID:20591708|PMID:21914562|PMID:22473288|PMID:28492532|PMID:9618178 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1353625 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:25657822|PMID:25741868|PMID:27770071 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:9001325 Rett Syndrome, Atypical ISO RGD:1353625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:15492925|PMID:15499549|PMID:15689447|PMID:15917271|PMID:16015284|PMID:16199547|PMID:16611748|PMID:16813600|PMID:17993579|PMID:18063413|PMID:18414213|PMID:18790821|PMID:18809835|PMID:19161156|PMID:19241098|PMID:19253388|PMID:19362436|PMID:19428276|PMID:19455595|PMID:19471977|PMID:19740913|PMID:19780792|PMID:19793311|PMID:19807736|PMID:20493745|PMID:21160487|PMID:21293276|PMID:21318334|PMID:21765152|PMID:21770923|PMID:22430159|PMID:22670135|PMID:22670143|PMID:22678952|PMID:22867051|PMID:22872100|PMID:22982301|PMID:23064044|PMID:23151060|PMID:23238081|PMID:23583054|PMID:23934111|PMID:25657822|PMID:25741868|PMID:25819767|PMID:26271793|PMID:26467025|PMID:26482601|PMID:26993267|PMID:27599155|PMID:27770071|PMID:27823948|PMID:27848944|PMID:28492532|PMID:29100083|PMID:30182498|PMID:30460546|PMID:31313283|PMID:31492455|PMID:31780880|PMID:33436160 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:9001793 Generalized Epilepsy ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:18414213|PMID:20397747|PMID:25741868|PMID:28492532 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:9003531 Nicolaides Baraitser Syndrome ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome PMID:25741868 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:9006534 Nervous System Malformations ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12157326 CDKL5 cyclin dependent kinase like 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1353625 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:36937954 12157353 GBA1 glucosylceramidase beta 1 gene DOID:0050474 Netherton syndrome severity ISO RGD:1607089 D RGD:9068941 20200609 RGD protein:decreased expression:epidermis stratum corneum PMID:16601670|REF_RGD_ID:5508433 12157353 GBA1 glucosylceramidase beta 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1607089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12157353 GBA1 glucosylceramidase beta 1 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1607089 D RGD:7240710 20180130 OMIM 12157353 GBA1 glucosylceramidase beta 1 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1607089 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary late onset Parkinson disease | ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:10079102|PMID:10636167|PMID:10649495|PMID:10685993|PMID:10714667|PMID:10744424|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11783951|PMID:11903352|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12482401|PMID:12587096|PMID:12595585|PMID:12694238|PMID:12734541|PMID:12791040|PMID:12838552|PMID:12972024|PMID:1348297|PMID:1415223|PMID:14578207|PMID:14757438|PMID:1487244|PMID:15146461|PMID:1558964|PMID:15605411|PMID:15826241|PMID:1589760|PMID:15967693|PMID:16061944|PMID:16199547|PMID:16293621|PMID:16967369|PMID:1704891|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17689991|PMID:17875915|PMID:18022370|PMID:18160183|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1864608|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20301446|PMID:20629126|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21384230|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21745757|PMID:21831682|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22173904|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22227325|PMID:22247978|PMID:22375149|PMID:22387070|PMID:22388998|PMID:22429443|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22658918|PMID:2269438|PMID:22713811|PMID:22961873|PMID:22964618|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23225227|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23430873|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23699752|PMID:23719189|PMID:2378352|PMID:23811968|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24482953|PMID:24522292|PMID:2464926|PMID:24685312|PMID:24756352|PMID:2502917|PMID:2508065|PMID:25084554|PMID:25127542|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25525159|PMID:25535748|PMID:25558695|PMID:25653295|PMID:2569551|PMID:25741868|PMID:25933391|PMID:25946768|PMID:26000814|PMID:26096741|PMID:26117366|PMID:26296077|PMID:26467025|PMID:26689913|PMID:26868973|PMID:26905200|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27123476|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27682613|PMID:27717005|PMID:27735925|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29091352|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29842932|PMID:29934114|PMID:29980418|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30456712|PMID:30487145|PMID:30528841|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30764785|PMID:30941926|PMID:31010158|PMID:31026225|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32165122|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34134921|PMID:34275192|PMID:34649574|PMID:7475546|PMID:7627184|PMID:7655857|PMID:7789963|PMID:7916532|PMID:7981693|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8280613|PMID:8294487|PMID:84325327|PMID:8432537|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8733893|PMID:8774051|PMID:8790604|PMID:8889578|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9240741|PMID:9279145|PMID:9375849|PMID:9516376|PMID:9554746|PMID:9556036 12157353 GBA1 glucosylceramidase beta 1 gene DOID:0080855 Parkinsonism ISO RGD:1607089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:10079102|PMID:10649495|PMID:10714667|PMID:10796875|PMID:11336129|PMID:11903352|PMID:12595585|PMID:12791040|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15967693|PMID:16293621|PMID:16967369|PMID:17427031|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18160183|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18541817|PMID:1864608|PMID:18987351|PMID:1899336|PMID:19286695|PMID:1972019|PMID:20004703|PMID:20301446|PMID:20816920|PMID:20947659|PMID:21106416|PMID:21228398|PMID:21472771|PMID:21700212|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21831682|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22227325|PMID:22451204|PMID:22623374|PMID:22713811|PMID:22820396|PMID:22975760|PMID:23035075|PMID:2309702|PMID:23225227|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24522292|PMID:2464926|PMID:25249066|PMID:25333069|PMID:25535748|PMID:2569551|PMID:25741868|PMID:26000814|PMID:26096741|PMID:26117366|PMID:26296077|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27312774|PMID:27717005|PMID:27865684|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:2880291|PMID:28894968|PMID:28947706|PMID:28969384|PMID:29029963|PMID:29471591|PMID:29487000|PMID:29602947|PMID:29625627|PMID:29934114|PMID:29980418|PMID:30146349|PMID:30285649|PMID:30302829|PMID:30456712|PMID:30548430|PMID:30606667|PMID:30662625|PMID:30941926|PMID:31010158|PMID:31130284|PMID:31216804|PMID:31561936|PMID:32014045|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33402667|PMID:33473340|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7981693|PMID:8160756|PMID:8294487|PMID:8929950|PMID:9375849 12157353 GBA1 glucosylceramidase beta 1 gene DOID:0080855 Parkinsonism severity ISO RGD:1607089 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:20838799|REF_RGD_ID:5508426 12157353 GBA1 glucosylceramidase beta 1 gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:1607089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome PMID:25741868 12157353 GBA1 glucosylceramidase beta 1 gene DOID:0110957 Gaucher's disease type I ISO RGD:1607089 D RGD:7240710 20190227 OMIM 12157353 GBA1 glucosylceramidase beta 1 gene DOID:0110957 Gaucher's disease type I ISO RGD:1607089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Gaucher disease type I PMID:10079102|PMID:10340647|PMID:10352942|PMID:10369158|PMID:10466427|PMID:10636167|PMID:10649495|PMID:10679038|PMID:10685993|PMID:10714667|PMID:10744424|PMID:10757640|PMID:10777718|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11406344|PMID:11783951|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12476451|PMID:12482401|PMID:12587096|PMID:12595585|PMID:12791040|PMID:12838552|PMID:12972024|PMID:1301953|PMID:1348297|PMID:1415223|PMID:14578207|PMID:14728994|PMID:14757438|PMID:1487244|PMID:14994233|PMID:15146461|PMID:15214004|PMID:15276648|PMID:15329082|PMID:15352589|PMID:1558964|PMID:15605411|PMID:15690354|PMID:15826241|PMID:1589760|PMID:15943874|PMID:15954102|PMID:16061944|PMID:16086325|PMID:16185900|PMID:16199547|PMID:16293621|PMID:16329099|PMID:16546416|PMID:16967369|PMID:16981045|PMID:1704891|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17560820|PMID:17574891|PMID:17576681|PMID:17620502|PMID:17689991|PMID:17875915|PMID:18022370|PMID:18030725|PMID:18332251|PMID:18338393|PMID:18347322|PMID:1840477|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1864608|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19026343|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19394250|PMID:19459886|PMID:19513999|PMID:1961718|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20004867|PMID:20005137|PMID:20301446|PMID:20432762|PMID:20629126|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20846888|PMID:20880730|PMID:20946052|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21056933|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21384230|PMID:21431620|PMID:21445609|PMID:21455010|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21745757|PMID:21779299|PMID:21823541|PMID:21856586|PMID:21982627|PMID:22006919|PMID:22112991|PMID:22160715|PMID:22173904|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22234757|PMID:22247978|PMID:22375149|PMID:22387070|PMID:22388998|PMID:22429443|PMID:22451204|PMID:22493294|PMID:22526844|PMID:22592100|PMID:22623374|PMID:22658918|PMID:2269438|PMID:22713811|PMID:22812582|PMID:22961873|PMID:22964618|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23056756|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23332636|PMID:23386328|PMID:23418865|PMID:23426826|PMID:23430543|PMID:23430873|PMID:23448517|PMID:2349952|PMID:23508695|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23699752|PMID:23719189|PMID:23757202|PMID:2378352|PMID:23811968|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24278166|PMID:24313877|PMID:24434810|PMID:24482953|PMID:24513544|PMID:24522292|PMID:2464926|PMID:24685312|PMID:24756352|PMID:24801745|PMID:24904648|PMID:2502917|PMID:2508065|PMID:25084554|PMID:25127542|PMID:25168325|PMID:25249066|PMID:25287185|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25482214|PMID:25525159|PMID:25535748|PMID:25558695|PMID:25653295|PMID:2569551|PMID:25732996|PMID:25741868|PMID:25829804|PMID:25933391|PMID:25946768|PMID:26043810|PMID:26051481|PMID:26096741|PMID:26117366|PMID:26220978|PMID:26316492|PMID:26467025|PMID:26689913|PMID:26709268|PMID:26743617|PMID:26756743|PMID:26792850|PMID:26847548|PMID:26868973|PMID:26905200|PMID:27008851|PMID:27014572|PMID:27027900|PMID:27094865|PMID:27123474|PMID:27123476|PMID:27136700|PMID:27153395|PMID:27222815|PMID:27271787|PMID:27282561|PMID:27312774|PMID:27393345|PMID:27632223|PMID:27682613|PMID:27717005|PMID:27735925|PMID:27802905|PMID:27816428|PMID:27825739|PMID:27836528|PMID:27864021|PMID:27865684|PMID:27872820|PMID:27896091|PMID:27922757|PMID:28492532|PMID:28506293|PMID:28546865|PMID:28580830|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29091352|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153 12157353 GBA1 glucosylceramidase beta 1 gene DOID:0110957 Gaucher's disease type I ISO RGD:1607089 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gaucher disease type I PMID:29602947|PMID:29625627|PMID:29685539|PMID:29842932|PMID:29934114|PMID:29980418|PMID:30115580|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30328501|PMID:30364808|PMID:30382391|PMID:30456712|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30637984|PMID:30662625|PMID:30764785|PMID:30941926|PMID:30949558|PMID:31010158|PMID:31026225|PMID:31077260|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31256856|PMID:31561936|PMID:3180993|PMID:31816052|PMID:31943857|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32165122|PMID:32547927|PMID:32618053|PMID:32658388|PMID:32677286|PMID:32707456|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33301762|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:34280392|PMID:34426522|PMID:34649574|PMID:7475546|PMID:7627184|PMID:7655857|PMID:7694727|PMID:7789963|PMID:7916532|PMID:7981693|PMID:8081401|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8280613|PMID:8294487|PMID:84325327|PMID:8432537|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8733893|PMID:8751878|PMID:8774051|PMID:8790604|PMID:8829654|PMID:8889578|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9182788|PMID:9240741|PMID:9279145|PMID:9295080|PMID:9375849|PMID:9516376|PMID:9536098|PMID:9554454|PMID:9554746|PMID:9556036|PMID:9683600|PMID:9856561 12157353 GBA1 glucosylceramidase beta 1 gene DOID:0110958 Gaucher's disease type II ISO RGD:1607089 D RGD:7240710 20180926 OMIM 12157353 GBA1 glucosylceramidase beta 1 gene DOID:0110958 Gaucher's disease type II ISO RGD:1607089 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gaucher disease type II | ClinVar Annotator: match by term: Gaucher disease, acute neuronopathic type PMID:10079102|PMID:10636167|PMID:10649495|PMID:10714667|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11783951|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12482401|PMID:12595585|PMID:12838552|PMID:1301953|PMID:1348297|PMID:1415223|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15276648|PMID:1558964|PMID:15605411|PMID:15826241|PMID:1589760|PMID:15954102|PMID:16061944|PMID:16199547|PMID:16293621|PMID:16967369|PMID:1704891|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17689991|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:1840477|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20301446|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21431620|PMID:21445609|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21745757|PMID:21856586|PMID:21982627|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:2269438|PMID:22713811|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23430873|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24482953|PMID:24522292|PMID:2464926|PMID:24756352|PMID:2502917|PMID:25127542|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25525159|PMID:25535748|PMID:25653295|PMID:2569551|PMID:25741868|PMID:25946768|PMID:26043810|PMID:26096741|PMID:26117366|PMID:26689913|PMID:26868973|PMID:26905200|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27682613|PMID:27717005|PMID:27735925|PMID:27802905|PMID:27825739|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29685539|PMID:29842932|PMID:29934114|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30456712|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30764785|PMID:30941926|PMID:30949558|PMID:31010158|PMID:31026225|PMID:31077260|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31256856|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32165122|PMID:32618053|PMID:32658388|PMID:32677286|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:34426522|PMID:34649574|PMID:7475546|PMID:7627184|PMID:7789963|PMID:7981693|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8733893|PMID:8790604|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9279145|PMID:9375849|PMID:9554746|PMID:9556036 12157353 GBA1 glucosylceramidase beta 1 gene DOID:0110959 Gaucher's disease type III ISO RGD:1607089 D RGD:7240710 20180905 OMIM 12157353 GBA1 glucosylceramidase beta 1 gene DOID:0110959 Gaucher's disease type III ISO RGD:1607089 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gaucher disease type III | ClinVar Annotator: match by term: Gaucher disease, subacute neuronopathic type PMID:10466427|PMID:10636167|PMID:10649495|PMID:10714667|PMID:10757640|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12476451|PMID:12482401|PMID:12595585|PMID:12838552|PMID:1301953|PMID:1348297|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15276648|PMID:15605411|PMID:15826241|PMID:15954102|PMID:16061944|PMID:16086325|PMID:16293621|PMID:16967369|PMID:16981045|PMID:1704891|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17689991|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:1840477|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20004867|PMID:20301446|PMID:20432762|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20846888|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21056933|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22387070|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:2269438|PMID:22713811|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24482953|PMID:24522292|PMID:2464926|PMID:24685312|PMID:24756352|PMID:2502917|PMID:2508065|PMID:25168325|PMID:25249066|PMID:25287185|PMID:25333069|PMID:25456120|PMID:25535748|PMID:25653295|PMID:2569551|PMID:25732996|PMID:25741868|PMID:25946768|PMID:26043810|PMID:26096741|PMID:26709268|PMID:26743617|PMID:26868973|PMID:26905200|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27632223|PMID:27717005|PMID:27735925|PMID:27802905|PMID:27825739|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29685539|PMID:29842932|PMID:29934114|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30382391|PMID:30456712|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30764785|PMID:30941926|PMID:30949558|PMID:31010158|PMID:31026225|PMID:31077260|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32165122|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7475546|PMID:7627184|PMID:7655857|PMID:7789963|PMID:7981693|PMID:8081401|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8733893|PMID:8774051|PMID:8790604|PMID:8829654|PMID:8929950|PMID:9040001|PMID:9279145|PMID:9375849|PMID:9554746|PMID:9556036|PMID:9650766 12157353 GBA1 glucosylceramidase beta 1 gene DOID:0110960 Gaucher's disease perinatal lethal ISO RGD:1607089 D RGD:7240710 20180130 OMIM 12157353 GBA1 glucosylceramidase beta 1 gene DOID:0110960 Gaucher's disease perinatal lethal ISO RGD:1607089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gaucher disease collodion type | ClinVar Annotator: match by term: Gaucher disease perinatal lethal PMID:10079102|PMID:10352942|PMID:10636167|PMID:10649495|PMID:10685993|PMID:10714667|PMID:10744424|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11783951|PMID:11903352|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12482401|PMID:12595585|PMID:12694238|PMID:12734541|PMID:12791040|PMID:12838552|PMID:1348297|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15214004|PMID:15605411|PMID:15690354|PMID:15826241|PMID:15967693|PMID:16061944|PMID:16293621|PMID:16546416|PMID:16967369|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17560820|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18160183|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1864608|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19459886|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20005137|PMID:20301446|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21384230|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21745757|PMID:21779299|PMID:21831682|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22227325|PMID:22234757|PMID:22375149|PMID:22388998|PMID:22451204|PMID:22526844|PMID:22592100|PMID:22623374|PMID:22658918|PMID:2269438|PMID:22713811|PMID:22812582|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23225227|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23418865|PMID:23426826|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24522292|PMID:2464926|PMID:24756352|PMID:2502917|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25535748|PMID:25653295|PMID:2569551|PMID:25741868|PMID:25946768|PMID:26000814|PMID:26096741|PMID:26117366|PMID:26296077|PMID:26467025|PMID:26847548|PMID:26868973|PMID:26905200|PMID:27008851|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27123476|PMID:27153395|PMID:27222815|PMID:27271787|PMID:27282561|PMID:27312774|PMID:27393345|PMID:27717005|PMID:27735925|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29091352|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29685539|PMID:29842932|PMID:29934114|PMID:29980418|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30328501|PMID:30364808|PMID:30456712|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30764785|PMID:30941926|PMID:31010158|PMID:31026225|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31561936|PMID:3180993|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7475546|PMID:7627184|PMID:7789963|PMID:7981693|PMID:8160756|PMID:8213821|PMID:8280613|PMID:8294487|PMID:8432537|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8751878|PMID:8774051|PMID:8790604|PMID:8889578|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9375849|PMID:9554746|PMID:9556036 12157353 GBA1 glucosylceramidase beta 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1607089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12157353 GBA1 glucosylceramidase beta 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1607089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12157353 GBA1 glucosylceramidase beta 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1607089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12157353 GBA1 glucosylceramidase beta 1 gene DOID:0112250 Gaucher's disease type IIIC ISO RGD:1607089 D RGD:7240710 20180130 OMIM 12157353 GBA1 glucosylceramidase beta 1 gene DOID:0112250 Gaucher's disease type IIIC ISO RGD:1607089 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: GAUCHER DISEASE, TYPE IIIC | ClinVar Annotator: match by term: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome PMID:10636167|PMID:10649495|PMID:10714667|PMID:10796875|PMID:11148530|PMID:11336129|PMID:11359469|PMID:11933202|PMID:11992489|PMID:12482401|PMID:12838552|PMID:1348297|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16061944|PMID:16293621|PMID:16967369|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20301446|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:2269438|PMID:22713811|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24522292|PMID:2464926|PMID:24756352|PMID:2502917|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25535748|PMID:25653295|PMID:2569551|PMID:25741868|PMID:25946768|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27717005|PMID:27735925|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29842932|PMID:29934114|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30456712|PMID:30487145|PMID:30528841|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30941926|PMID:31010158|PMID:31026225|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7475546|PMID:7627184|PMID:7789963|PMID:7981693|PMID:8160756|PMID:8213821|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8790604|PMID:8929950|PMID:9040001|PMID:9375849|PMID:9554746|PMID:9556036 12157353 GBA1 glucosylceramidase beta 1 gene DOID:12217 Lewy body dementia ISO RGD:1607089 D RGD:7240710 20180130 OMIM 12157353 GBA1 glucosylceramidase beta 1 gene DOID:12217 Lewy body dementia ISO RGD:1607089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diffuse Lewy body disease | ClinVar Annotator: match by term: Lewy body dementia PMID:10079102|PMID:10352942|PMID:10466427|PMID:10636167|PMID:10649495|PMID:10685993|PMID:10714667|PMID:10744424|PMID:10757640|PMID:10777718|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11783951|PMID:11903352|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12482401|PMID:12587096|PMID:12595585|PMID:12838552|PMID:12972024|PMID:1301953|PMID:1348297|PMID:1415223|PMID:14578207|PMID:14757438|PMID:1487244|PMID:15146461|PMID:15276648|PMID:15352589|PMID:1558964|PMID:15605411|PMID:15826241|PMID:1589760|PMID:15954102|PMID:15967693|PMID:16061944|PMID:16086325|PMID:16185900|PMID:16185907|PMID:16199547|PMID:16293621|PMID:16967369|PMID:16981045|PMID:1704891|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17574891|PMID:17620502|PMID:17689991|PMID:17803231|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:1840477|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19394250|PMID:19513999|PMID:19527940|PMID:1961718|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20004867|PMID:20301446|PMID:20425034|PMID:20432762|PMID:20629126|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20846888|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21056933|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21384230|PMID:21431620|PMID:21445609|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21744338|PMID:21745757|PMID:21779299|PMID:21837367|PMID:21856586|PMID:21982627|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22234757|PMID:22344629|PMID:22375149|PMID:22387070|PMID:22388998|PMID:22451204|PMID:22526844|PMID:22592100|PMID:22623374|PMID:22658918|PMID:2269438|PMID:22713811|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23430873|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23699752|PMID:23719189|PMID:23757202|PMID:2378352|PMID:23811968|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24278166|PMID:24434810|PMID:24482953|PMID:24522292|PMID:2464926|PMID:24685312|PMID:24756352|PMID:24904648|PMID:2502917|PMID:2508065|PMID:25127542|PMID:25168325|PMID:25249066|PMID:25287185|PMID:25326392|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25525159|PMID:25535748|PMID:25558695|PMID:25653295|PMID:2569551|PMID:25732996|PMID:25741868|PMID:25933391|PMID:25946768|PMID:26096741|PMID:26117366|PMID:26296077|PMID:26467025|PMID:26689913|PMID:26709268|PMID:26743617|PMID:26792850|PMID:26868973|PMID:26905200|PMID:27008851|PMID:27014572|PMID:27027900|PMID:27094865|PMID:27123474|PMID:27123476|PMID:27153395|PMID:27222815|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27571329|PMID:27632223|PMID:27682613|PMID:27717005|PMID:27735925|PMID:27790088|PMID:27802905|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28034821|PMID:28492532|PMID:28506293|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29091352|PMID:29140481|PMID:29423829|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29656334|PMID:29685539|PMID:29784561|PMID:29842932|PMID:29934114|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30328501|PMID:30364808|PMID:30382391|PMID:30456712|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30548430|PMID:30573413|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30764785|PMID:30941926|PMID:30949558|PMID:31010158|PMID:31026225|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31256856|PMID:31561936|PMID:31662221|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32165122|PMID:32618053|PMID:32658388|PMID:32677286|PMID:32714263 12157353 GBA1 glucosylceramidase beta 1 gene DOID:12217 Lewy body dementia ISO RGD:1607089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diffuse Lewy body disease | ClinVar Annotator: match by term: Lewy body dementia PMID:32866938|PMID:32883051|PMID:32888397|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33547828|PMID:33570220|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34017912|PMID:34072005|PMID:34073924|PMID:34275192|PMID:34426522|PMID:34649574|PMID:7475546|PMID:7627184|PMID:7655857|PMID:7789963|PMID:7916532|PMID:7981693|PMID:8081401|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8280613|PMID:8294487|PMID:84325327|PMID:8432537|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8733893|PMID:8790604|PMID:8829654|PMID:8889578|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9240741|PMID:9279145|PMID:9295080|PMID:9375849|PMID:9497856|PMID:9554746|PMID:9556036|PMID:9683600|PMID:9856561 12157353 GBA1 glucosylceramidase beta 1 gene DOID:14330 Parkinson's disease ISO RGD:1607089 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease PMID:10649495|PMID:10714667|PMID:10796875|PMID:11336129|PMID:12482401|PMID:1348297|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:16967369|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18434642|PMID:18541817|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:1972019|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20301446|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22713811|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24522292|PMID:2464926|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25535748|PMID:25653295|PMID:2569551|PMID:25741868|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27717005|PMID:27735925|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29842932|PMID:29934114|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30456712|PMID:30487145|PMID:30528841|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30941926|PMID:31010158|PMID:31130284|PMID:31188768|PMID:31216804|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7789963|PMID:7981693|PMID:8160756|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8929950|PMID:9375849|PMID:9554746|PMID:9556036 12157353 GBA1 glucosylceramidase beta 1 gene DOID:14330 Parkinson's disease no_association ISO RGD:1607089 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.K-26R, p.K186R, p.N370S (human) PMID:19945510|REF_RGD_ID:5508429 12157353 GBA1 glucosylceramidase beta 1 gene DOID:14330 Parkinson's disease onset ISO RGD:1607089 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.N370S (human) PMID:20528910|REF_RGD_ID:5508427 12157353 GBA1 glucosylceramidase beta 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1607089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12157353 GBA1 glucosylceramidase beta 1 gene DOID:1588 thrombocytopenia ISO RGD:1607089 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10796875|PMID:12482401|PMID:1348297|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:17395504|PMID:17427031|PMID:17875915|PMID:18332251|PMID:18338393|PMID:18434642|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20301446|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:2117855|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23277556|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25653295|PMID:2569551|PMID:25741868|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27735925|PMID:27872820|PMID:28492532|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29842932|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30487145|PMID:30528841|PMID:30606667|PMID:30609409|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32658388|PMID:32714263|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:7789963|PMID:8160756|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:9554746|PMID:9556036 12157353 GBA1 glucosylceramidase beta 1 gene DOID:1926 Gaucher's disease ISO RGD:1607089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Acid beta-glucosidase deficiency | ClinVar Annotator: match by term: Gaucher disease | ClinVar Annotator: match by term: Kerasin thesaurismosis PMID:10079102|PMID:10352942|PMID:10369158|PMID:10466427|PMID:10636167|PMID:10649495|PMID:10679038|PMID:10685993|PMID:10714667|PMID:10744424|PMID:10757640|PMID:10777718|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11406344|PMID:11600137|PMID:11783951|PMID:11903352|PMID:11933202|PMID:11992489|PMID:12000368|PMID:12204005|PMID:12476451|PMID:12482401|PMID:12587096|PMID:12595585|PMID:12667990|PMID:12694238|PMID:12734541|PMID:12791040|PMID:12838552|PMID:12972024|PMID:1301953|PMID:1348297|PMID:1415223|PMID:14509164|PMID:14578207|PMID:14728994|PMID:14757438|PMID:1487244|PMID:14994233|PMID:15146461|PMID:15214004|PMID:15276648|PMID:15329082|PMID:15352589|PMID:1558964|PMID:15605411|PMID:15690354|PMID:15826241|PMID:1589760|PMID:15943874|PMID:15954102|PMID:15967693|PMID:16061944|PMID:16086325|PMID:16185900|PMID:16185907|PMID:16199547|PMID:16293621|PMID:16326120|PMID:16329099|PMID:16546416|PMID:16967369|PMID:16981045|PMID:1704891|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17560820|PMID:17574891|PMID:17576681|PMID:17620502|PMID:17689991|PMID:17803231|PMID:17875915|PMID:18022370|PMID:18030725|PMID:18078074|PMID:18160183|PMID:18332251|PMID:18338393|PMID:18347322|PMID:1840477|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1864608|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19026343|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19394250|PMID:19433656|PMID:19459886|PMID:19513999|PMID:19527940|PMID:1961718|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19790257|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20004867|PMID:20005137|PMID:20301446|PMID:20425034|PMID:20432762|PMID:20629126|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20846888|PMID:20880730|PMID:20946052|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21056933|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21384230|PMID:21431620|PMID:21445609|PMID:21455010|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21744338|PMID:21745757|PMID:21779299|PMID:21823541|PMID:21831682|PMID:21837367|PMID:21856586|PMID:21982627|PMID:22006919|PMID:22112991|PMID:22160715|PMID:22173904|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22227325|PMID:22234757|PMID:22247978|PMID:22344629|PMID:22350617|PMID:22375149|PMID:22387070|PMID:22388998|PMID:22429443|PMID:22451204|PMID:22526844|PMID:22592100|PMID:22623374|PMID:22658918|PMID:2269438|PMID:22713811|PMID:22791670|PMID:22812582|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23056756|PMID:2309702|PMID:23225227|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23332636|PMID:23386328|PMID:23418865|PMID:23426826|PMID:23430543|PMID:23430873|PMID:23430949|PMID:23448517|PMID:2349952|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23699752|PMID:23719189|PMID:23757202|PMID:2378352|PMID:23811968|PMID:23936319|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24278166|PMID:24313877|PMID:24434810|PMID:24482953|PMID:24522292|PMID:2464926|PMID:24685312|PMID:24756352|PMID:24801745|PMID:24904648|PMID:2502917|PMID:2508065|PMID:25084554|PMID:25127542|PMID:25168325|PMID:25249066|PMID:25287185|PMID:25326392|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25482214|PMID:25525159|PMID:25535748|PMID:25558695|PMID:25637381|PMID:25653295|PMID:2569551|PMID:25732996|PMID:25741868|PMID:25829804|PMID:25933391|PMID:25946768|PMID:26000814|PMID:26008600|PMID:26043810|PMID:26051481|PMID:26096741|PMID:26117366|PMID:26220978|PMID:26296077|PMID:26467025|PMID:26689913|PMID:26709268|PMID:26743617|PMID:26756743|PMID:26792850|PMID:26847548|PMID:26868973|PMID:26905200|PMID:27008195|PMID:27008851|PMID:27014572|PMID:27027900|PMID:27094865|PMID:27123474|PMID:27123476|PMID:27136700|PMID:27153395|PMID:27222815|PMID:27271787|PMID:27282561|PMID:27312774|PMID:27393345|PMID:27571329|PMID:27632223|PMID:27682613|PMID:27717005|PMID:27735925|PMID:27790088|PMID:27802905 12157353 GBA1 glucosylceramidase beta 1 gene DOID:1926 Gaucher's disease ISO RGD:1607089 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acid beta-glucosidase deficiency | ClinVar Annotator: match by term: Gaucher disease | ClinVar Annotator: match by term: Kerasin thesaurismosis PMID:27816428|PMID:27825739|PMID:27836528|PMID:27864021|PMID:27865684|PMID:27872820|PMID:27896091|PMID:27922757|PMID:28034821|PMID:28492532|PMID:28506293|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29091352|PMID:29140481|PMID:29423829|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29656334|PMID:29685539|PMID:29784561|PMID:29842932|PMID:29934114|PMID:29980418|PMID:30115580|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30328501|PMID:30364808|PMID:30382391|PMID:30456712|PMID:30461613|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30548430|PMID:30573413|PMID:30606667|PMID:30609409|PMID:30637984|PMID:30662625|PMID:30764785|PMID:30941926|PMID:30949558|PMID:31010158|PMID:31026225|PMID:31077260|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31256856|PMID:31561936|PMID:31662221|PMID:3180993|PMID:31816052|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32165122|PMID:32547927|PMID:32618053|PMID:32623306|PMID:32658388|PMID:32677286|PMID:32707456|PMID:32714263|PMID:32866938|PMID:32883051|PMID:32888397|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33301762|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33547828|PMID:33570220|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34017912|PMID:34072005|PMID:34073924|PMID:34134921|PMID:34275192|PMID:34280392|PMID:34426522|PMID:34649574|PMID:7475546|PMID:7500895|PMID:7627184|PMID:7655857|PMID:7694727|PMID:7789963|PMID:7916532|PMID:7981693|PMID:8081401|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8280613|PMID:8294487|PMID:84325327|PMID:8432537|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8547070|PMID:8733893|PMID:8774051|PMID:8790604|PMID:8829654|PMID:8889578|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9182788|PMID:9240741|PMID:9279145|PMID:9295080|PMID:9375849|PMID:9497856|PMID:9516376|PMID:9536098|PMID:9554454|PMID:9554746|PMID:9556036|PMID:9683600|PMID:9856561 12157353 GBA1 glucosylceramidase beta 1 gene DOID:2213 hemorrhagic disease ISO RGD:1607089 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10466427|PMID:10757640|PMID:10796875|PMID:12482401|PMID:12595585|PMID:1348297|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:16981045|PMID:17395504|PMID:17427031|PMID:17875915|PMID:18332251|PMID:18338393|PMID:18434642|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20301446|PMID:20432762|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20846888|PMID:20947659|PMID:20980259|PMID:20980263|PMID:2117855|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23277556|PMID:23430543|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25287185|PMID:25333069|PMID:25456120|PMID:25653295|PMID:2569551|PMID:25732996|PMID:25741868|PMID:25946768|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27632223|PMID:27735925|PMID:27872820|PMID:28492532|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29842932|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30487145|PMID:30528841|PMID:30606667|PMID:30609409|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32658388|PMID:32714263|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:7789963|PMID:8081401|PMID:8160756|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:9153297|PMID:9554746|PMID:9556036 12157353 GBA1 glucosylceramidase beta 1 gene DOID:480 movement disease ISO RGD:1607089 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Movement disorder PMID:10649495|PMID:10714667|PMID:10796875|PMID:11336129|PMID:14757438|PMID:15146461|PMID:15605411|PMID:16293621|PMID:16967369|PMID:17427031|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18541817|PMID:18987351|PMID:1899336|PMID:19286695|PMID:1972019|PMID:20004703|PMID:20301446|PMID:20816920|PMID:21106416|PMID:21228398|PMID:21472771|PMID:21700212|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22623374|PMID:22713811|PMID:22975760|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24522292|PMID:2464926|PMID:25249066|PMID:25333069|PMID:25535748|PMID:2569551|PMID:25741868|PMID:26096741|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27717005|PMID:27865684|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:2880291|PMID:28894968|PMID:28947706|PMID:28969384|PMID:29029963|PMID:29471591|PMID:29487000|PMID:29602947|PMID:29625627|PMID:29934114|PMID:30146349|PMID:30285649|PMID:30456712|PMID:30548430|PMID:30606667|PMID:30662625|PMID:30941926|PMID:31010158|PMID:31130284|PMID:31216804|PMID:31561936|PMID:32014045|PMID:32618053|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33402667|PMID:33473340|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7981693|PMID:8160756|PMID:8294487|PMID:8929950|PMID:9375849 12157353 GBA1 glucosylceramidase beta 1 gene DOID:5812 MHC class II deficiency ISO RGD:1607089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12157353 GBA1 glucosylceramidase beta 1 gene DOID:630 genetic disease ISO RGD:1607089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10079102|PMID:10369158|PMID:10636167|PMID:10649495|PMID:10679038|PMID:10685993|PMID:10714667|PMID:10744424|PMID:10757640|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11783951|PMID:11903352|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12482401|PMID:12587096|PMID:12595585|PMID:12694238|PMID:12734541|PMID:12838552|PMID:12972024|PMID:1301953|PMID:1348297|PMID:1415223|PMID:14578207|PMID:14757438|PMID:1487244|PMID:15146461|PMID:15276648|PMID:15329082|PMID:1558964|PMID:15605411|PMID:15690354|PMID:15826241|PMID:1589760|PMID:15954102|PMID:15967693|PMID:16061944|PMID:16185900|PMID:16185907|PMID:16199547|PMID:16293621|PMID:16967369|PMID:1704891|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17689991|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:1840477|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19459886|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20301446|PMID:20629126|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21744338|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22247978|PMID:22344629|PMID:22388998|PMID:22451204|PMID:22526844|PMID:22592100|PMID:22623374|PMID:2269438|PMID:22713811|PMID:22791670|PMID:22812582|PMID:22820396|PMID:2295698|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23035075|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23426826|PMID:23430543|PMID:23430873|PMID:23430949|PMID:23448517|PMID:2349952|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23699752|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24278166|PMID:24434810|PMID:24482953|PMID:24522292|PMID:2464926|PMID:24756352|PMID:24801745|PMID:2502917|PMID:25127542|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25482214|PMID:25525159|PMID:25535748|PMID:25558695|PMID:25653295|PMID:2569551|PMID:25741868|PMID:25933391|PMID:25946768|PMID:26008600|PMID:26096741|PMID:26117366|PMID:26220978|PMID:26689913|PMID:26847548|PMID:26868973|PMID:26905200|PMID:27007895|PMID:27008195|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27136700|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27682613|PMID:27717005|PMID:27735925|PMID:27802905|PMID:27816428|PMID:27836528|PMID:27864021|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28030538|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29685539|PMID:29842932|PMID:29854527|PMID:29934114|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30456712|PMID:30461613|PMID:30487145|PMID:30528841|PMID:30537300|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30764785|PMID:30941926|PMID:30949558|PMID:31010158|PMID:31026225|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32031266|PMID:32042592|PMID:32165122|PMID:32547927|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7475546|PMID:7627184|PMID:7655857|PMID:7789963|PMID:7857677|PMID:7916532|PMID:7981693|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8294487|PMID:84325327|PMID:8432537|PMID:8450045 12157353 GBA1 glucosylceramidase beta 1 gene DOID:630 genetic disease ISO RGD:1607089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:8487270|PMID:8516282|PMID:8544197|PMID:8733893|PMID:8774051|PMID:8790604|PMID:8889578|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9175735|PMID:9240741|PMID:9279145|PMID:9375849|PMID:9516376|PMID:9554454|PMID:9554746|PMID:9556036 12157353 GBA1 glucosylceramidase beta 1 gene DOID:6432 pulmonary hypertension ISO RGD:1607089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12359135 12157353 GBA1 glucosylceramidase beta 1 gene DOID:687 hepatoblastoma ISO RGD:1607089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868 12157353 GBA1 glucosylceramidase beta 1 gene DOID:8893 psoriasis ISO RGD:1607089 D RGD:9068941 20200609 RGD PMID:15610510|REF_RGD_ID:5508434 12157353 GBA1 glucosylceramidase beta 1 gene DOID:9000495 Tremor ISO RGD:1607089 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Resting tremor PMID:10649495|PMID:10714667|PMID:10796875|PMID:11336129|PMID:14757438|PMID:15146461|PMID:15605411|PMID:16293621|PMID:16967369|PMID:17427031|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18541817|PMID:18987351|PMID:1899336|PMID:19286695|PMID:1972019|PMID:20004703|PMID:20301446|PMID:20816920|PMID:21106416|PMID:21228398|PMID:21472771|PMID:21700212|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22623374|PMID:22713811|PMID:22975760|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24522292|PMID:2464926|PMID:25249066|PMID:25333069|PMID:25535748|PMID:2569551|PMID:25741868|PMID:26096741|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27717005|PMID:27865684|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:2880291|PMID:28894968|PMID:28947706|PMID:28969384|PMID:29029963|PMID:29471591|PMID:29487000|PMID:29602947|PMID:29625627|PMID:29934114|PMID:30146349|PMID:30285649|PMID:30456712|PMID:30548430|PMID:30606667|PMID:30662625|PMID:30941926|PMID:31010158|PMID:31130284|PMID:31216804|PMID:31561936|PMID:32014045|PMID:32618053|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33402667|PMID:33473340|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7981693|PMID:8160756|PMID:8294487|PMID:8929950|PMID:9375849 12157353 GBA1 glucosylceramidase beta 1 gene DOID:9005372 Inflammation ISO RGD:1623310 D RGD:9068941 20200609 RGD PMID:11994410|REF_RGD_ID:5508435 12157353 GBA1 glucosylceramidase beta 1 gene DOID:9005940 Autosomal Dominant Diffuse Lewy Body Disease ISO RGD:1607089 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease PMID:10649495|PMID:10714667|PMID:10796875|PMID:11336129|PMID:12482401|PMID:1348297|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:16967369|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18434642|PMID:18541817|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:1972019|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20301446|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22713811|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24522292|PMID:2464926|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25535748|PMID:25653295|PMID:2569551|PMID:25741868|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27717005|PMID:27735925|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29842932|PMID:29934114|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30456712|PMID:30487145|PMID:30528841|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30941926|PMID:31010158|PMID:31130284|PMID:31188768|PMID:31216804|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7789963|PMID:7981693|PMID:8160756|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8929950|PMID:9375849|PMID:9554746|PMID:9556036 12157353 GBA1 glucosylceramidase beta 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12157368 FBXL20 F-box and leucine rich repeat protein 20 gene DOID:630 genetic disease ISO RGD:1345687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157402 ZNF446 zinc finger protein 446 gene DOID:630 genetic disease ISO RGD:1351503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157402 ZNF446 zinc finger protein 446 gene DOID:9002189 High Myopia ISO RGD:1351503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12157402 ZNF446 zinc finger protein 446 gene DOID:9007661 Dwarfism ISO RGD:1351503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12157451 PSMA7 proteasome 20S subunit alpha 7 gene DOID:630 genetic disease ISO RGD:737158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157461 ELMOD3 ELMO domain containing 3 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1353080 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:25741868 12157461 ELMOD3 ELMO domain containing 3 gene DOID:0110533 autosomal recessive nonsyndromic deafness 88 ISO RGD:1353080 D RGD:7240710 20180130 OMIM 12157461 ELMOD3 ELMO domain containing 3 gene DOID:0110533 autosomal recessive nonsyndromic deafness 88 ISO RGD:1353080 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 88 PMID:24039609|PMID:25741868|PMID:28492532 12157461 ELMOD3 ELMO domain containing 3 gene DOID:630 genetic disease ISO RGD:1353080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12157461 ELMOD3 ELMO domain containing 3 gene DOID:9002982 Autosomal Dominant Nonsyndromic Deafness 81 ISO RGD:1353080 D RGD:7240710 20210908 OMIM 12157461 ELMOD3 ELMO domain containing 3 gene DOID:9002982 Autosomal Dominant Nonsyndromic Deafness 81 ISO RGD:1353080 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 81 PMID:25741868|PMID:28492532|PMID:29713870 12157478 RPL29 ribosomal protein L29 gene DOID:630 genetic disease ISO RGD:737093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157486 NXT1 nuclear transport factor 2 like export factor 1 gene DOID:630 genetic disease ISO RGD:1319614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157496 KDM5A lysine demethylase 5A gene DOID:10283 prostate cancer ISO RGD:1313452 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland (human) PMID:24200674|REF_RGD_ID:9587761 12157496 KDM5A lysine demethylase 5A gene DOID:1059 intellectual disability ISO RGD:1313452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12157496 KDM5A lysine demethylase 5A gene DOID:11383 cryptorchidism ISO RGD:1305429 D RGD:9068941 20200609 RGD mRNA:increased expression:testes (rat) PMID:24679876|REF_RGD_ID:9588526 12157496 KDM5A lysine demethylase 5A gene DOID:1612 breast cancer severity ISO RGD:1313452 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast (human) PMID:23266085|REF_RGD_ID:9586731 12157496 KDM5A lysine demethylase 5A gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1313452 D RGD:9068941 20200609 RGD protein:increased expression:lung (human) PMID:25162518|REF_RGD_ID:9588530 12157496 KDM5A lysine demethylase 5A gene DOID:5517 stomach carcinoma ISO RGD:1313452 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach (human) PMID:23794145|REF_RGD_ID:9588529 12157496 KDM5A lysine demethylase 5A gene DOID:630 genetic disease ISO RGD:1313452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157496 KDM5A lysine demethylase 5A gene DOID:7147 ankylosing spondylitis susceptibility ISO RGD:1313452 D RGD:9068941 20200609 RGD DNA:snps:intron:IVST>A, IVS-1467C>T, IVS+828T>C (rs7134353, rs2284336, rs11062357) (human) PMID:24069348|REF_RGD_ID:9588532 12157496 KDM5A lysine demethylase 5A gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1313452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12157496 KDM5A lysine demethylase 5A gene DOID:986 alopecia areata ISO RGD:1313452 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:21936853|REF_RGD_ID:9587460 12157528 NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:0090006 renal coloboma syndrome ISO RGD:1319298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal coloboma syndrome PMID:11461952|PMID:24676634|PMID:28492532 12157528 NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:0112080 nuclear type mitochondrial complex I deficiency 32 ISO RGD:1319298 D RGD:7240710 20190315 OMIM 12157528 NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:0112080 nuclear type mitochondrial complex I deficiency 32 ISO RGD:1319298 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 PMID:25741868|PMID:28492532|PMID:29429571 12157528 NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:10652 Alzheimer's disease ISO RGD:1319298 D RGD:9068941 20200609 RGD PMID:14570706|REF_RGD_ID:1358651 12157528 NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:14330 Parkinson's disease ISO RGD:1319298 D RGD:9068941 20200609 RGD PMID:26605748|REF_RGD_ID:13504667 12157528 NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:3021 acute kidney failure ISO RGD:1309129 D RGD:9068941 20200609 RGD PMID:22160772|REF_RGD_ID:13801199 12157528 NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:37 skin disease ISO RGD:1319298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12157528 NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:630 genetic disease ISO RGD:1319298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12157528 NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:9004484 Sepsis ISO RGD:1309129 D RGD:9068941 20200609 RGD PMID:22952679|REF_RGD_ID:13801198 12157528 NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1309129 D RGD:9068941 20200609 RGD PMID:24096033|REF_RGD_ID:13801197 12157528 NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1319299 D RGD:9068941 20200609 RGD PMID:22160772|REF_RGD_ID:13801199 12157528 NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:9007964 Arsenic Poisoning ISO RGD:1319298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12157537 CHMP4C charged multivesicular body protein 4C gene DOID:630 genetic disease ISO RGD:1606751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157537 CHMP4C charged multivesicular body protein 4C gene DOID:9002762 Ovarian Neoplasms ISO RGD:1606751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23535730|PMID:31043753 12157546 CAPZB capping actin protein of muscle Z-line subunit beta gene DOID:0060369 Parkinson's disease 6 ISO RGD:1347618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12157546 CAPZB capping actin protein of muscle Z-line subunit beta gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1347618 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12157546 CAPZB capping actin protein of muscle Z-line subunit beta gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1347618 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12157546 CAPZB capping actin protein of muscle Z-line subunit beta gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1347618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12157546 CAPZB capping actin protein of muscle Z-line subunit beta gene DOID:1307 dementia ISO RGD:1359099 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:20545768|REF_RGD_ID:9685031 12157546 CAPZB capping actin protein of muscle Z-line subunit beta gene DOID:305 carcinoma ISO RGD:1347618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12157546 CAPZB capping actin protein of muscle Z-line subunit beta gene DOID:630 genetic disease ISO RGD:1347618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157546 CAPZB capping actin protein of muscle Z-line subunit beta gene DOID:9000039 Spinal Cord Injuries ISO RGD:1359099 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:20141154|REF_RGD_ID:9685028 12157546 CAPZB capping actin protein of muscle Z-line subunit beta gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1347618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12157546 CAPZB capping actin protein of muscle Z-line subunit beta gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1347618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 12157546 CAPZB capping actin protein of muscle Z-line subunit beta gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12157546 CAPZB capping actin protein of muscle Z-line subunit beta gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1347618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12157572 STX8 syntaxin 8 gene DOID:10283 prostate cancer ISO RGD:731411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12157572 STX8 syntaxin 8 gene DOID:630 genetic disease ISO RGD:731411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157586 ASS1 argininosuccinate synthase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:736136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12157586 ASS1 argininosuccinate synthase 1 gene DOID:0070340 classic citrullinemia ISO RGD:736136 D RGD:7240710 20200228 OMIM 12157586 ASS1 argininosuccinate synthase 1 gene DOID:0070340 classic citrullinemia ISO RGD:736136 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Citrullinemia type I PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15266621|PMID:15334737|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:19358837|PMID:1943692|PMID:19684305|PMID:20005624|PMID:20818742|PMID:21227727|PMID:21228398|PMID:21244552|PMID:21483992|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24033266|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27287393|PMID:27629047|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:29378745|PMID:30285816|PMID:30612563|PMID:30904546|PMID:31056765|PMID:31208364|PMID:3146925|PMID:31469252|PMID:31737040|PMID:32778825|PMID:32860008|PMID:33851512|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9090528|PMID:934749|PMID:9536098 12157586 ASS1 argininosuccinate synthase 1 gene DOID:10652 Alzheimer's disease ISO RGD:736136 D RGD:9068941 20200609 RGD protein:increased expression:brain, glial cell (human) PMID:11556547|REF_RGD_ID:4139898 12157586 ASS1 argininosuccinate synthase 1 gene DOID:11713 diabetic angiopathy ISO RGD:736136 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25033204 12157586 ASS1 argininosuccinate synthase 1 gene DOID:13141 uveitis ISO RGD:2163 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:eye (rat) PMID:12470967|REF_RGD_ID:631755 12157586 ASS1 argininosuccinate synthase 1 gene DOID:1909 melanoma ISO RGD:736136 D RGD:9068941 20200609 RGD PMID:12359751|REF_RGD_ID:4140479 12157586 ASS1 argininosuccinate synthase 1 gene DOID:409 liver disease ISO RGD:736136 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31651977 12157586 ASS1 argininosuccinate synthase 1 gene DOID:630 genetic disease ISO RGD:736136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11708871|PMID:11941481|PMID:12815590|PMID:16475226|PMID:17576681|PMID:18473344|PMID:19006241|PMID:19358837|PMID:19684305|PMID:20005624|PMID:20818742|PMID:23246278|PMID:23430935|PMID:2358466|PMID:25433810|PMID:25741868|PMID:27287393|PMID:28111830|PMID:28492532|PMID:30285816|PMID:31469252|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9536098 12157586 ASS1 argininosuccinate synthase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736136 D RGD:9068941 20200609 RGD PMID:12359751|REF_RGD_ID:4140479 12157586 ASS1 argininosuccinate synthase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736136 D RGD:9068941 20220616 RGD associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 12157586 ASS1 argininosuccinate synthase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2163 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:19914391|REF_RGD_ID:4140452 12157586 ASS1 argininosuccinate synthase 1 gene DOID:9002669 Hypoxia ISO RGD:2163 D RGD:9068941 20200609 RGD protein:increased activity:brain (rat) PMID:20567615|REF_RGD_ID:4110824 12157586 ASS1 argininosuccinate synthase 1 gene DOID:9004009 Reperfusion Injury resistance ISO RGD:2163 D RGD:9068941 20200609 RGD protein:increased expression:brain, neuron (rat) PMID:17198704|REF_RGD_ID:1599263 12157586 ASS1 argininosuccinate synthase 1 gene DOID:9004590 Acute Liver Failure ISO RGD:736136 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 12157586 ASS1 argininosuccinate synthase 1 gene DOID:9004713 Acute-Phase Reaction ISO RGD:2163 D RGD:9068941 20200609 RGD PMID:15698416|REF_RGD_ID:1599305 12157586 ASS1 argininosuccinate synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2163 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta (rat) PMID:11384198|REF_RGD_ID:1599310 12157586 ASS1 argininosuccinate synthase 1 gene DOID:9005930 Endotoxemia ISO RGD:2163 D RGD:9068941 20200609 RGD PMID:10652239|REF_RGD_ID:1599265 12157586 ASS1 argininosuccinate synthase 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:2163 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:20544730|REF_RGD_ID:4140449 12157586 ASS1 argininosuccinate synthase 1 gene DOID:9007480 Hyperoxia ISO RGD:2163 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:20805789|REF_RGD_ID:4142785 12157586 ASS1 argininosuccinate synthase 1 gene DOID:9007874 Liver Failure ISO RGD:2163 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:11779202|REF_RGD_ID:70249 12157586 ASS1 argininosuccinate synthase 1 gene DOID:9008972 Hyperammonemia ISO RGD:2163 D RGD:9068941 20200609 RGD PMID:10353334|REF_RGD_ID:1599267 12157586 ASS1 argininosuccinate synthase 1 gene DOID:9273 citrullinemia ISO RGD:736136 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild | ClinVar Annotator: match by term: Citrullinuria PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15266621|PMID:15334737|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:19358837|PMID:1943692|PMID:21227727|PMID:21228398|PMID:21244552|PMID:21483992|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24033266|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25640679|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27287393|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:29378745|PMID:30285816|PMID:30904546|PMID:31056765|PMID:31469252|PMID:31980526|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9090528|PMID:9536098 12157586 ASS1 argininosuccinate synthase 1 gene DOID:9273 citrullinemia ISO RGD:736136 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild | ClinVar Annotator: match by term: Citrullinuria PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15266621|PMID:15334737|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:19358837|PMID:1943692|PMID:21227727|PMID:21228398|PMID:21244552|PMID:21483992|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24033266|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25640679|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27168972|PMID:27287393|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:29378745|PMID:30285816|PMID:30904546|PMID:31056765|PMID:31469252|PMID:31980526|PMID:32778825|PMID:33851512|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9090528|PMID:9536098 12157586 ASS1 argininosuccinate synthase 1 gene DOID:9273 citrullinemia ISO RGD:736136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15266621|PMID:15334737|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:19358837|PMID:1943692|PMID:19684305|PMID:20005624|PMID:20818742|PMID:21227727|PMID:21228398|PMID:21244552|PMID:21483992|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24033266|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25640679|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27168972|PMID:27287393|PMID:27629047|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:29378745|PMID:30285816|PMID:30612563|PMID:30904546|PMID:31056765|PMID:31208364|PMID:3146925|PMID:31469252|PMID:31737040|PMID:31980526|PMID:32778825|PMID:33851512|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9090528|PMID:934749|PMID:9536098 12157586 ASS1 argininosuccinate synthase 1 gene DOID:9273 citrullinemia susceptibility ISO RGD:736136 D RGD:9068941 20200609 RGD PMID:7557970|REF_RGD_ID:1599301 12157606 PLP1 proteolipid protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12157606 PLP1 proteolipid protein 1 gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:732304 D RGD:7240710 20180130 OMIM 12157606 PLP1 proteolipid protein 1 gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:732304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 PMID:10319885|PMID:10319897|PMID:10417279|PMID:11093273|PMID:12601703|PMID:12910435|PMID:1384324|PMID:14452137|PMID:14745569|PMID:15450775|PMID:15712223|PMID:16199547|PMID:16287154|PMID:16380909|PMID:16844304|PMID:1720927|PMID:17438221|PMID:17576681|PMID:18160035|PMID:18414213|PMID:18470932|PMID:19328639|PMID:19825935|PMID:19955111|PMID:20022439|PMID:21679407|PMID:22016529|PMID:22343157|PMID:22695888|PMID:23344956|PMID:23347225|PMID:24088041|PMID:24139698|PMID:24519770|PMID:2479017|PMID:2480601|PMID:24890387|PMID:24936452|PMID:25741868|PMID:26125040|PMID:26467025|PMID:26633545|PMID:26786043|PMID:26795593|PMID:27535533|PMID:2773936|PMID:28366443|PMID:28492532|PMID:29451896|PMID:30314286|PMID:30337681|PMID:31448840|PMID:33504798|PMID:34782662|PMID:3827224|PMID:7488049|PMID:7522741|PMID:7531827|PMID:7539213|PMID:8012387|PMID:8320699|PMID:8659540|PMID:8723686|PMID:8786077|PMID:8956049|PMID:9056547|PMID:9106132|PMID:9247276|PMID:9427151|PMID:9489796|PMID:9536098|PMID:9633722|PMID:9634530|PMID:9934976 12157606 PLP1 proteolipid protein 1 gene DOID:1059 intellectual disability ISO RGD:732304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12157606 PLP1 proteolipid protein 1 gene DOID:11832 visual epilepsy ISO RGD:3354 D RGD:9068941 20200609 RGD PMID:2479544|PMID:434110|REF_RGD_ID:1358781|REF_RGD_ID:1358782 12157606 PLP1 proteolipid protein 1 gene DOID:12849 autistic disorder ISO RGD:732304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12157606 PLP1 proteolipid protein 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:732304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:10319897|PMID:15712223|PMID:25741868|PMID:26467025|PMID:28492532 12157606 PLP1 proteolipid protein 1 gene DOID:3210 Pelizaeus-Merzbacher disease IAGP D RGD:12801476 20210603 OMIA Tremor, X-linked PMID:4652629|PMID:4721939|PMID:343874|PMID:9035971 12157606 PLP1 proteolipid protein 1 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:732304 D RGD:7240710 20180130 OMIM 12157606 PLP1 proteolipid protein 1 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:732304 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, atypical | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, connatal | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, mild PMID:10319897|PMID:10417279|PMID:11071483|PMID:11093273|PMID:12297985|PMID:12605435|PMID:12910435|PMID:1376966|PMID:1384324|PMID:15712223|PMID:1605230|PMID:16380909|PMID:16778599|PMID:1707231|PMID:1715570|PMID:1720927|PMID:18414213|PMID:18470932|PMID:18835559|PMID:19396823|PMID:20022439|PMID:20301361|PMID:21679407|PMID:22343157|PMID:22695888|PMID:24088041|PMID:24139698|PMID:24519770|PMID:2479017|PMID:2480601|PMID:25326635|PMID:25491635|PMID:25741868|PMID:26125040|PMID:26467025|PMID:26633545|PMID:26795593|PMID:27535533|PMID:2773936|PMID:28286750|PMID:28492532|PMID:29451896|PMID:31690835|PMID:3827224|PMID:7488049|PMID:7573159|PMID:7574457|PMID:7683951|PMID:8696336|PMID:8723686|PMID:8786077|PMID:9056547|PMID:9482656|PMID:9633722|PMID:9634530 12157606 PLP1 proteolipid protein 1 gene DOID:3213 demyelinating disease ISO RGD:3354 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.T75P(rat) PMID:2479544|REF_RGD_ID:1358781 12157606 PLP1 proteolipid protein 1 gene DOID:630 genetic disease ISO RGD:732304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10401787|PMID:10417279|PMID:12910435|PMID:17576681|PMID:17962415|PMID:18414213|PMID:18470932|PMID:20022439|PMID:22343157|PMID:23771846|PMID:25491635|PMID:25741868|PMID:26467025|PMID:26795593|PMID:28492532|PMID:29451896|PMID:30337681|PMID:8786077|PMID:9536098 12157606 PLP1 proteolipid protein 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:732304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21068375 12157606 PLP1 proteolipid protein 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1551293 D RGD:9068941 20201211 RGD PMID:24941845|REF_RGD_ID:40902822 12157606 PLP1 proteolipid protein 1 gene DOID:9007428 Muscle Spasticity ISO RGD:732304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spasticity 12157606 PLP1 proteolipid protein 1 gene DOID:9007553 neurotoxicity treatment ISO RGD:3354 D RGD:9068941 20230323 RGD PMID:33166664|REF_RGD_ID:213230154 12157606 PLP1 proteolipid protein 1 gene DOID:9007752 Chronic Relapsing Experimental Autoimmune Encephalomyelitis ISO RGD:732304 D RGD:9068941 20200618 RGD human sequence peptide in a mouse model; associated with Herpesviridae infections PMID:12811845|REF_RGD_ID:30296670 12157606 PLP1 proteolipid protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:732304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12157623 PTPRB protein tyrosine phosphatase receptor type B gene DOID:0001816 angiosarcoma ISO RGD:1314242 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24633157 12157623 PTPRB protein tyrosine phosphatase receptor type B gene DOID:0001816 angiosarcoma ISO RGD:1314242 D RGD:9068941 20220303 RGD DNA:mutations:multiple (human) PMID:24633157|REF_RGD_ID:151361292 12157623 PTPRB protein tyrosine phosphatase receptor type B gene DOID:0001816 angiosarcoma ISO RGD:1314242 D RGD:9068941 20220310 RGD DNA:mutation:multiple (human) PMID:26440310|REF_RGD_ID:151665099 12157623 PTPRB protein tyrosine phosphatase receptor type B gene DOID:0060108 brain glioma ISO RGD:1314242 D RGD:9068941 20220310 RGD human cell in mouse model PMID:16923162|REF_RGD_ID:151660368 12157623 PTPRB protein tyrosine phosphatase receptor type B gene DOID:0060108 brain glioma ISO RGD:1314242 D RGD:9068941 20220310 RGD protein:increased expression:brain (human) PMID:33900414|REF_RGD_ID:151660356 12157623 PTPRB protein tyrosine phosphatase receptor type B gene DOID:0080199 colorectal carcinoma ISO RGD:1314242 D RGD:9068941 20220303 RGD mRNA:increased expression:colon (human) PMID:31040266|REF_RGD_ID:151361283 12157623 PTPRB protein tyrosine phosphatase receptor type B gene DOID:1115 sarcoma treatment ISO RGD:1314242 D RGD:9068941 20220303 RGD PMID:31089155|REF_RGD_ID:151660332 12157623 PTPRB protein tyrosine phosphatase receptor type B gene DOID:14400 capillary leak syndrome treatment ISO RGD:1552328 D RGD:9068941 20220310 RGD mouse tumor cells in mouse recipient PMID:31348125|REF_RGD_ID:151660353 12157623 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3068 glioblastoma ISO RGD:1314242 D RGD:9068941 20220310 RGD protein:increased expression:brain (human) PMID:14692702|PMID:15831233|REF_RGD_ID:151660507|REF_RGD_ID:151664746 12157623 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3068 glioblastoma treatment ISO RGD:1314242 D RGD:9068941 20220310 RGD human cells in mouse model PMID:16489031|REF_RGD_ID:151660504 12157623 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3307 teratoma ISO RGD:1552328 D RGD:9068941 20220310 RGD PMID:23575676|REF_RGD_ID:151660354 12157623 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3347 osteosarcoma disease_progression ISO RGD:1314242 D RGD:9068941 20220303 RGD mRNA:decreased expression:bone (human) PMID:31829261|REF_RGD_ID:151361289 12157623 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:1314242 D RGD:9068941 20220303 RGD protein:decreased expression:blood (human) PMID:32663515|REF_RGD_ID:151660329 12157623 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3908 lung non-small cell carcinoma ISO RGD:1314242 D RGD:9068941 20220303 RGD human cells in mouse model PMID:27314562|REF_RGD_ID:151361281 12157623 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1314242 D RGD:9068941 20220303 RGD mRNA:decreased expression:lung (human) PMID:27314562|REF_RGD_ID:151361281 12157623 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3910 lung adenocarcinoma ISO RGD:1314242 D RGD:9068941 20220310 RGD mRNA:decreased expression:lung (human) PMID:7981622|REF_RGD_ID:151665112 12157623 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1314242 D RGD:9068941 20220310 RGD mRNA:altered expression:lung (human) PMID:29254206|REF_RGD_ID:151665107 12157623 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:1314242 D RGD:9068941 20220310 RGD PMID:32626543|REF_RGD_ID:151665104 12157623 PTPRB protein tyrosine phosphatase receptor type B gene DOID:4511 breast angiosarcoma ISO RGD:1314242 D RGD:9068941 20220310 RGD DNA:mutation:multiple (human) PMID:32123305|REF_RGD_ID:151665102 12157623 PTPRB protein tyrosine phosphatase receptor type B gene DOID:630 genetic disease ISO RGD:1314242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157623 PTPRB protein tyrosine phosphatase receptor type B gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1314242 D RGD:9068941 20220303 RGD mRNA:decreased expression:liver (human) PMID:30237408|REF_RGD_ID:151361293 12157623 PTPRB protein tyrosine phosphatase receptor type B gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:1552328 D RGD:9068941 20220310 RGD PMID:23899555|REF_RGD_ID:151660352 12157623 PTPRB protein tyrosine phosphatase receptor type B gene DOID:9006608 Lung Carcinoid Tumors severity ISO RGD:1314242 D RGD:9068941 20220303 RGD mRNA:decreased expression:lung (human) PMID:25105010|REF_RGD_ID:151660336 12157623 PTPRB protein tyrosine phosphatase receptor type B gene DOID:9006618 Liver Metastasis treatment ISO RGD:1552328 D RGD:9068941 20220310 RGD mouse tumor cells in mouse recipient PMID:31348125|REF_RGD_ID:151660353 12157623 PTPRB protein tyrosine phosphatase receptor type B gene DOID:9009121 lung metastasis treatment ISO RGD:1552328 D RGD:9068941 20220310 RGD PMID:23899555|REF_RGD_ID:151660352 12157661 TCF20 transcription factor 20 gene DOID:0060041 autism spectrum disorder ISO RGD:69146 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12157661 TCF20 transcription factor 20 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1558109 D RGD:9068941 20220825 MouseDO OMIM:606232 12157661 TCF20 transcription factor 20 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 12157661 TCF20 transcription factor 20 gene DOID:1059 intellectual disability ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 12157661 TCF20 transcription factor 20 gene DOID:12849 autistic disorder ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868 12157661 TCF20 transcription factor 20 gene DOID:630 genetic disease ISO RGD:69146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30739909|PMID:31238879 12157661 TCF20 transcription factor 20 gene DOID:9001510 Funnel Chest ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:25741868 12157661 TCF20 transcription factor 20 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12157661 TCF20 transcription factor 20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:30739909 12157661 TCF20 transcription factor 20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69146 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868|PMID:30739909 12157661 TCF20 transcription factor 20 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:69146 D RGD:7240710 20190710 OMIM 12157661 TCF20 transcription factor 20 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:25228304|PMID:25741868|PMID:27436265|PMID:28492532|PMID:30739909|PMID:30819258|PMID:30909959|PMID:31690835 12157661 TCF20 transcription factor 20 gene DOID:9005603 Muscle Hypotonia ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia 12157661 TCF20 transcription factor 20 gene DOID:9008086 Developmental Disabilities ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12157661 TCF20 transcription factor 20 gene DOID:9008582 Developmental Disease ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12157674 CNOT6 CCR4-NOT transcription complex subunit 6 gene DOID:630 genetic disease ISO RGD:1347023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157695 PIP4P1 phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1316692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12157695 PIP4P1 phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 gene DOID:630 genetic disease ISO RGD:1316692 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157706 SF3B4 splicing factor 3b subunit 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12157706 SF3B4 splicing factor 3b subunit 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12157706 SF3B4 splicing factor 3b subunit 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1320131 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12157706 SF3B4 splicing factor 3b subunit 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12157706 SF3B4 splicing factor 3b subunit 4 gene DOID:1793 pancreatic cancer ISO RGD:1320131 D RGD:9068941 20230128 RGD mRNA, protein:decreased expression:pancreas (human) PMID:28351319|REF_RGD_ID:155804299 12157706 SF3B4 splicing factor 3b subunit 4 gene DOID:4362 cervical cancer ISO RGD:1320131 D RGD:9068941 20230128 RGD human cells in mouse model PMID:35853859|REF_RGD_ID:155882439 12157706 SF3B4 splicing factor 3b subunit 4 gene DOID:4362 cervical cancer severity ISO RGD:1320131 D RGD:9068941 20230128 RGD mRNA, protein:increased expression:cervix (human) PMID:35853859|REF_RGD_ID:155882439 12157706 SF3B4 splicing factor 3b subunit 4 gene DOID:5768 Nager acrofacial dysostosis ISO RGD:1320131 D RGD:7240710 20180130 OMIM 12157706 SF3B4 splicing factor 3b subunit 4 gene DOID:5768 Nager acrofacial dysostosis ISO RGD:1320131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nager syndrome PMID:22541558|PMID:23568615|PMID:24003905|PMID:25741868|PMID:28492532 12157706 SF3B4 splicing factor 3b subunit 4 gene DOID:5812 MHC class II deficiency ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12157706 SF3B4 splicing factor 3b subunit 4 gene DOID:630 genetic disease ISO RGD:1320131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22541558|PMID:23568615|PMID:24003905|PMID:25741868|PMID:26228803|PMID:28492532 12157706 SF3B4 splicing factor 3b subunit 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1309667 D RGD:9068941 20230105 RGD mRNA, protein:increased expression:liver (rat) PMID:29059470|REF_RGD_ID:155791679 12157706 SF3B4 splicing factor 3b subunit 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1320131 D RGD:9068941 20230105 RGD mRNA, protein:increased expression:liver (human) PMID:29059470|REF_RGD_ID:155791679 12157706 SF3B4 splicing factor 3b subunit 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1320131 D RGD:9068941 20230128 RGD human cells in mouse model PMID:30391496|REF_RGD_ID:155804298 12157706 SF3B4 splicing factor 3b subunit 4 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1320131 D RGD:9068941 20230128 RGD mRNA, protein:increased expression:liver(human) PMID:30391496|REF_RGD_ID:155804298 12157706 SF3B4 splicing factor 3b subunit 4 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1320132 D RGD:9068941 20230105 RGD PMID:29059470|REF_RGD_ID:155791679 12157706 SF3B4 splicing factor 3b subunit 4 gene DOID:9004538 Hearing Loss ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary hearing loss and deafness PMID:25741868 12157706 SF3B4 splicing factor 3b subunit 4 gene DOID:9005616 Micrognathism ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:25741868 12157706 SF3B4 splicing factor 3b subunit 4 gene DOID:9009121 lung metastasis ISO RGD:1320131 D RGD:9068941 20230128 RGD human cells in mouse model PMID:30391496|REF_RGD_ID:155804298 12157706 SF3B4 splicing factor 3b subunit 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12157716 HMGB2 high mobility group box 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1605728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24366584|PMID:27602772 12157716 HMGB2 high mobility group box 2 gene DOID:630 genetic disease ISO RGD:1605728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157716 HMGB2 high mobility group box 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1605728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20851854 12157716 HMGB2 high mobility group box 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29877212 12157716 HMGB2 high mobility group box 2 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1605728 D RGD:9068941 20200609 RGD mRNA:decreased expression:articular cartilage PMID:19139395|REF_RGD_ID:10402184 12157716 HMGB2 high mobility group box 2 gene DOID:9002331 Knee Osteoarthritis severity ISO RGD:736524 D RGD:9068941 20200609 RGD PMID:19139395|REF_RGD_ID:10402184 12157716 HMGB2 high mobility group box 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12157716 HMGB2 high mobility group box 2 gene DOID:9006205 Animal Disease Models ISO RGD:1605728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12157716 HMGB2 high mobility group box 2 gene DOID:9970 obesity ISO RGD:1605728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12157725 CRISPLD1 cysteine rich secretory protein LCCL domain containing 1 gene DOID:630 genetic disease ISO RGD:1605927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157745 NUAK2 NUAK family kinase 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1603952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12157745 NUAK2 NUAK family kinase 2 gene DOID:12849 autistic disorder ISO RGD:1603952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12157745 NUAK2 NUAK family kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1603952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12157745 NUAK2 NUAK family kinase 2 gene DOID:630 genetic disease ISO RGD:1603952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157745 NUAK2 NUAK family kinase 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1603952 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12157745 NUAK2 NUAK family kinase 2 gene DOID:9007291 Anencephaly 2 ISO RGD:1603952 D RGD:7240710 20210728 OMIM 12157745 NUAK2 NUAK family kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12157763 FAM114A2 family with sequence similarity 114 member A2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313342 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12157763 FAM114A2 family with sequence similarity 114 member A2 gene DOID:630 genetic disease ISO RGD:1313342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157763 FAM114A2 family with sequence similarity 114 member A2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313342 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12157781 NOXO1 NADPH oxidase organizer 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1317206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 12157781 NOXO1 NADPH oxidase organizer 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1317206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12157781 NOXO1 NADPH oxidase organizer 1 gene DOID:1826 epilepsy ISO RGD:1317206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12157781 NOXO1 NADPH oxidase organizer 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1317206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12157781 NOXO1 NADPH oxidase organizer 1 gene DOID:630 genetic disease ISO RGD:1317206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157803 NRXN3 neurexin 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1353595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12157803 NRXN3 neurexin 3 gene DOID:12849 autistic disorder ISO RGD:1353595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12157803 NRXN3 neurexin 3 gene DOID:14261 fragile X syndrome ISO RGD:1553035 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus,somatosendory cortex PMID:26235839|REF_RGD_ID:11554325 12157803 NRXN3 neurexin 3 gene DOID:303 substance-related disorder ISO RGD:1353595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12157803 NRXN3 neurexin 3 gene DOID:630 genetic disease ISO RGD:1353595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157803 NRXN3 neurexin 3 gene DOID:9007661 Dwarfism ISO RGD:1353595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12157823 TRARG1 trafficking regulator of GLUT4 (SLC2A4) 1 gene DOID:0060432 chromosome 17p13.3 duplication syndrome ISO RGD:1316946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome PMID:21681106 12157823 TRARG1 trafficking regulator of GLUT4 (SLC2A4) 1 gene DOID:630 genetic disease ISO RGD:1316946 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157823 TRARG1 trafficking regulator of GLUT4 (SLC2A4) 1 gene DOID:9002310 Split-Hand/Foot Malformation with Long Bone Deficiency 3 ISO RGD:1316946 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Chromosome 17P13.3, telomeric, duplication syndrome PMID:25741868 12157823 TRARG1 trafficking regulator of GLUT4 (SLC2A4) 1 gene DOID:9002821 Bifid Femur with Monodactylous Ectrodactyly ISO RGD:1316946 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Gollop-Wolfgang complex PMID:25741868 12157835 CDC16 cell division cycle 16 gene DOID:2222 factor X deficiency ISO RGD:1312892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12157835 CDC16 cell division cycle 16 gene DOID:630 genetic disease ISO RGD:1312892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157861 ZBP1 Z-DNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1351033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157877 SERGEF secretion regulating guanine nucleotide exchange factor gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1603222 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 12157877 SERGEF secretion regulating guanine nucleotide exchange factor gene DOID:1059 intellectual disability ISO RGD:1603222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12157877 SERGEF secretion regulating guanine nucleotide exchange factor gene DOID:1936 atherosclerosis ISO RGD:1603222 D RGD:9068941 20230128 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) PMID:33381146|REF_RGD_ID:155882464 12157877 SERGEF secretion regulating guanine nucleotide exchange factor gene DOID:630 genetic disease ISO RGD:1603222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157894 SOX14 SRY-box transcription factor 14 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1320109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 12157894 SOX14 SRY-box transcription factor 14 gene DOID:630 genetic disease ISO RGD:1320109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157899 PNRC1 proline rich nuclear receptor coactivator 1 gene DOID:0080600 COVID-19 ISO RGD:1354036 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12157899 PNRC1 proline rich nuclear receptor coactivator 1 gene DOID:630 genetic disease ISO RGD:1354036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157899 PNRC1 proline rich nuclear receptor coactivator 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1354036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12157906 BCDIN3D BCDIN3 domain containing RNA methyltransferase gene DOID:13501 Moebius syndrome ISO RGD:1601723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum PMID:28492532 12157906 BCDIN3D BCDIN3 domain containing RNA methyltransferase gene DOID:630 genetic disease ISO RGD:1601723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157915 KRT15 keratin 15 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1342638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12157915 KRT15 keratin 15 gene DOID:630 genetic disease ISO RGD:1342638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157915 KRT15 keratin 15 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1342638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12157915 KRT15 keratin 15 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1342638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 12157939 ZFP1 ZFP1 zinc finger protein gene DOID:2565 macular corneal dystrophy ISO RGD:1351790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 12157939 ZFP1 ZFP1 zinc finger protein gene DOID:607 paraplegia ISO RGD:1351790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12157939 ZFP1 ZFP1 zinc finger protein gene DOID:630 genetic disease ISO RGD:1351790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157957 LOC100688210 ATP synthase F(0) complex subunit C2, mitochondrial-like gene DOID:11054 urinary bladder cancer ISO RGD:736098 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:26929985|REF_RGD_ID:14696811 12157957 LOC100688210 ATP synthase F(0) complex subunit C2, mitochondrial-like gene DOID:4450 renal cell carcinoma ISO RGD:736098 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:21132003|REF_RGD_ID:14696812 12157957 LOC100688210 ATP synthase F(0) complex subunit C2, mitochondrial-like gene DOID:4467 clear cell renal cell carcinoma ISO RGD:736098 D RGD:9068941 20200609 RGD PMID:28672194|REF_RGD_ID:14696810 12157957 LOC100688210 ATP synthase F(0) complex subunit C2, mitochondrial-like gene DOID:630 genetic disease ISO RGD:736098 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12157957 LOC100688210 ATP synthase F(0) complex subunit C2, mitochondrial-like gene DOID:9000740 ST Elevation Myocardial Infarction severity ISO RGD:736098 D RGD:9068941 20200609 RGD PMID:27441480|REF_RGD_ID:14696800 12157957 LOC100688210 ATP synthase F(0) complex subunit C2, mitochondrial-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12157970 MIR148A microRNA mir-148a gene DOID:10591 pre-eclampsia ameliorates ISO RGD:9685082 D RGD:9068941 20230323 RGD PMID:31203154|REF_RGD_ID:213230155 12157970 MIR148A microRNA mir-148a gene DOID:2043 hepatitis B ISO RGD:1346027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12157970 MIR148A microRNA mir-148a gene DOID:219 colon cancer disease_progression ISO RGD:1346027 D RGD:9068941 20220825 RGD human cells in mouse model;RNA:increased expression:colon,exosome (human) PMID:28211508|REF_RGD_ID:153344546 12157970 MIR148A microRNA mir-148a gene DOID:3021 acute kidney failure ISO RGD:1346027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 12157970 MIR148A microRNA mir-148a gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12157970 MIR148A microRNA mir-148a gene DOID:4989 pancreatitis ISO RGD:1346027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12157970 MIR148A microRNA mir-148a gene DOID:6000 congestive heart failure ISO RGD:1346027 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12157970 MIR148A microRNA mir-148a gene DOID:9007188 Liver Neoplasms ISO RGD:1346027 D RGD:9068941 20200702 CTD CTD Direct Evidence: therapeutic PMID:32268151 12157970 MIR148A microRNA mir-148a gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25359176|PMID:28545106 12158063 FAM135A family with sequence similarity 135 member A gene DOID:0080198 infantile histiocytoid cardiomyopathy ISO RGD:1312650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Foamy myocardial transformation of infancy 12158063 FAM135A family with sequence similarity 135 member A gene DOID:630 genetic disease ISO RGD:1312650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158103 ELMOD2 ELMO domain containing 2 gene DOID:2843 long QT syndrome ISO RGD:1352550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12158103 ELMOD2 ELMO domain containing 2 gene DOID:630 genetic disease ISO RGD:1352550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158115 PEG3 paternally expressed 3 gene DOID:4947 cholangiocarcinoma ISO RGD:1322359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 12158115 PEG3 paternally expressed 3 gene DOID:630 genetic disease ISO RGD:1322359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158115 PEG3 paternally expressed 3 gene DOID:9003155 Parasitic Liver Diseases ISO RGD:1322359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 12158135 FCF1 FCF1 rRNA-processing protein gene DOID:1059 intellectual disability ISO RGD:1322068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12158135 FCF1 FCF1 rRNA-processing protein gene DOID:630 genetic disease ISO RGD:1322068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158147 LRP3 LDL receptor related protein 3 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:733839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12158147 LRP3 LDL receptor related protein 3 gene DOID:630 genetic disease ISO RGD:733839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158147 LRP3 LDL receptor related protein 3 gene DOID:9119 acute myeloid leukemia ISO RGD:733839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:28492532 12158155 SRM spermidine synthase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12158155 SRM spermidine synthase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732806 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12158155 SRM spermidine synthase gene DOID:0111936 immunodeficiency 14 ISO RGD:732806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 12158155 SRM spermidine synthase gene DOID:3910 lung adenocarcinoma ISO RGD:732806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12158155 SRM spermidine synthase gene DOID:630 genetic disease ISO RGD:732806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158155 SRM spermidine synthase gene DOID:9006205 Animal Disease Models ISO RGD:732806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12158155 SRM spermidine synthase gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:732806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 12158165 IMPA2 inositol monophosphatase 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1347157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12158165 IMPA2 inositol monophosphatase 2 gene DOID:1059 intellectual disability ISO RGD:1347157 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12158165 IMPA2 inositol monophosphatase 2 gene DOID:289 endometriosis ISO RGD:1347157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12158165 IMPA2 inositol monophosphatase 2 gene DOID:3312 bipolar disorder ISO RGD:1347157 D RGD:9068941 20200609 RGD PMID:11673796|PMID:9322233|REF_RGD_ID:6480265|REF_RGD_ID:6480269 12158165 IMPA2 inositol monophosphatase 2 gene DOID:3312 bipolar disorder susceptibility ISO RGD:1347157 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-461C>T, -207T>C(human) PMID:14699425|REF_RGD_ID:6480267 12158165 IMPA2 inositol monophosphatase 2 gene DOID:5419 schizophrenia ISO RGD:1347157 D RGD:9068941 20200609 RGD DNA:polymorphisms:intron,exons:-15G>A, 58G>A, 800C>T (human) PMID:11317223|REF_RGD_ID:6480266 12158165 IMPA2 inositol monophosphatase 2 gene DOID:543 dystonia ISO RGD:1347157 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 12158165 IMPA2 inositol monophosphatase 2 gene DOID:630 genetic disease ISO RGD:1347157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158165 IMPA2 inositol monophosphatase 2 gene DOID:9007956 Febrile Seizures ISO RGD:1347157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15557493 12158177 LOC100684429 protein BEX1-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12158177 LOC100684429 protein BEX1-like gene DOID:12849 autistic disorder ISO RGD:1353223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12158177 LOC100684429 protein BEX1-like gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1353223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:31690835 12158177 LOC100684429 protein BEX1-like gene DOID:630 genetic disease ISO RGD:1353223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158178 TCTN1 tectonic family member 1 gene DOID:0050777 Joubert syndrome ISO RGD:1606246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:17576681|PMID:18414213|PMID:21725307|PMID:22693042|PMID:25741868|PMID:25920555|PMID:26489806|PMID:27894351|PMID:28492532|PMID:9536098 12158178 TCTN1 tectonic family member 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1606246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 PMID:16199547|PMID:17576681|PMID:21725307|PMID:22693042|PMID:25741868|PMID:27894351|PMID:28492532|PMID:9536098 12158178 TCTN1 tectonic family member 1 gene DOID:0110982 Joubert Syndrome 13 ISO RGD:1606246 D RGD:7240710 20190315 OMIM 12158178 TCTN1 tectonic family member 1 gene DOID:0110982 Joubert Syndrome 13 ISO RGD:1606246 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome 13 PMID:16199547|PMID:18414213|PMID:21725307|PMID:22693042|PMID:25558065|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26123494|PMID:26477546|PMID:27894351|PMID:28492532|PMID:32949114|PMID:34645488 12158178 TCTN1 tectonic family member 1 gene DOID:630 genetic disease ISO RGD:1606246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12158178 TCTN1 tectonic family member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1606246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17984051 12158178 TCTN1 tectonic family member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1606246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:25741868|PMID:26092869 12158178 TCTN1 tectonic family member 1 gene DOID:9008582 Developmental Disease ISO RGD:1606246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:26489806|PMID:28492532 12158232 TMEM47 transmembrane protein 47 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12158232 TMEM47 transmembrane protein 47 gene DOID:12849 autistic disorder ISO RGD:1343840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12158232 TMEM47 transmembrane protein 47 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1343840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome 12158232 TMEM47 transmembrane protein 47 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12158232 TMEM47 transmembrane protein 47 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1343840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 12158239 ASH2L ASH2 like, histone lysine methyltransferase complex subunit gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1313775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 12158239 ASH2L ASH2 like, histone lysine methyltransferase complex subunit gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1313775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 12158239 ASH2L ASH2 like, histone lysine methyltransferase complex subunit gene DOID:5419 schizophrenia ISO RGD:1305632 D RGD:9068941 20200609 RGD PMID:23932495|REF_RGD_ID:9586022 12158239 ASH2L ASH2 like, histone lysine methyltransferase complex subunit gene DOID:607 paraplegia ISO RGD:1313775 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12158239 ASH2L ASH2 like, histone lysine methyltransferase complex subunit gene DOID:630 genetic disease ISO RGD:1313775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158239 ASH2L ASH2 like, histone lysine methyltransferase complex subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1313775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:26539891 12158275 FOLH1B folate hydrolase 1B gene DOID:0060193 amyotrophic lateral sclerosis type 1 treatment ISO RGD:737025 D RGD:9068941 20200609 RGD PMID:12876198|REF_RGD_ID:737756 12158275 FOLH1B folate hydrolase 1B gene DOID:1059 intellectual disability ISO RGD:734060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12158275 FOLH1B folate hydrolase 1B gene DOID:630 genetic disease ISO RGD:734060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158275 FOLH1B folate hydrolase 1B gene DOID:9002304 Prostatic Neoplasms ISO RGD:734060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18247401|PMID:21923190 12158302 SLC25A38 solute carrier family 25 member 38 gene DOID:0060063 sideroblastic anemia 1 ISO RGD:1606272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia PMID:28492532 12158302 SLC25A38 solute carrier family 25 member 38 gene DOID:0060065 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 ISO RGD:1606272 D RGD:7240710 20180130 OMIM 12158302 SLC25A38 solute carrier family 25 member 38 gene DOID:0060065 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 ISO RGD:1606272 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive | ClinVar Annotator: match by term: Sideroblastic anemia pyridoxine-refractory autosomal recessive PMID:19412178|PMID:21393332|PMID:24323989|PMID:25326635|PMID:25512395|PMID:25741868|PMID:25985931|PMID:26636621|PMID:28492532|PMID:28772256|PMID:29499877|PMID:29786897|PMID:30214775|PMID:30735661|PMID:31338833|PMID:31642437|PMID:32605921|PMID:32790119|PMID:33256393|PMID:34298585 12158302 SLC25A38 solute carrier family 25 member 38 gene DOID:630 genetic disease ISO RGD:1606272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12158302 SLC25A38 solute carrier family 25 member 38 gene DOID:8955 sideroblastic anemia ISO RGD:1606272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19412178 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:0060180 colitis ISO RGD:2906 D RGD:9068941 20200609 RGD PMID:14738862|REF_RGD_ID:7257706 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:0080600 COVID-19 ISO RGD:735299 D RGD:9068941 20210115 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:0080600 COVID-19 ISO RGD:735299 D RGD:9068941 20210115 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:0080784 urinary tract infection ISO RGD:735300 D RGD:9068941 20200609 RGD PMID:18401338|REF_RGD_ID:7257688 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:735299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:735299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:10457 Legionnaires' disease ISO RGD:735300 D RGD:9068941 20200609 RGD PMID:11254553|REF_RGD_ID:5135252 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:10459 common cold ISO RGD:735300 D RGD:9068941 20200609 RGD PMID:19864593|REF_RGD_ID:5131210 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:10690 mastitis ISO RGD:735299 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:16041010 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:10763 hypertension ISO RGD:735299 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:27678262 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:10952 nephritis ISO RGD:2906 D RGD:9068941 20200609 RGD PMID:11313419|REF_RGD_ID:7257685 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:11054 urinary bladder cancer ISO RGD:735299 D RGD:9068941 20210115 RGD DNA:SNP PMID:19252927|REF_RGD_ID:2315930 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:11400 pyelonephritis ISO RGD:735300 D RGD:9068941 20200609 RGD PMID:21814172|REF_RGD_ID:7257675 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:11729 Lyme disease severity ISO RGD:735300 D RGD:9068941 20200609 RGD PMID:12847259|REF_RGD_ID:7257681 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:1205 allergic disease ISO RGD:735299 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:12205 dengue disease treatment ISO RGD:735300 D RGD:9068941 20201015 RGD PMID:30098206|REF_RGD_ID:39938828 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:12375 bronchopneumonia disease_progression ISO RGD:735300 D RGD:9068941 20200609 RGD associated with Plague PMID:21356370|REF_RGD_ID:5134954 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:1485 cystic fibrosis ISO RGD:735300 D RGD:9068941 20200609 RGD PMID:20818377|REF_RGD_ID:5135034 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:2154 nephroblastoma ISO RGD:735299 D RGD:9068941 20210115 RGD PMID:17634442|REF_RGD_ID:7257700 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:735299 D RGD:9068941 20210115 RGD DNA:SNPs: :rs4674257, rs4674259 (human) PMID:21214373|REF_RGD_ID:7257677 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:735299 D RGD:9068941 20210115 RGD PMID:12857718|REF_RGD_ID:5135248 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:3213 demyelinating disease ISO RGD:2906 D RGD:9068941 20200609 RGD PMID:19616545|REF_RGD_ID:7257694 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:735299 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:735300 D RGD:9068941 20200609 RGD PMID:18836137|REF_RGD_ID:5134989 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:4450 renal cell carcinoma ISO RGD:735300 D RGD:9068941 20200609 RGD PMID:16210641|REF_RGD_ID:7257682 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:735299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:552 pneumonia ISO RGD:735299 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:559 acute pyelonephritis susceptibility ISO RGD:735299 D RGD:9068941 20210115 RGD DNA:polymorphism:3' utr:1208C>T (human) PMID:22325052|REF_RGD_ID:7207860 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:630 genetic disease ISO RGD:735299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735299 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:783 end stage renal disease ISO RGD:735299 D RGD:9068941 20210115 RGD DNA:polymorphism: :1208C>T (human) PMID:23615182|REF_RGD_ID:7257672 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:823 periapical periodontitis ISO RGD:2906 D RGD:9068941 20200609 RGD PMID:22341067|REF_RGD_ID:7257692 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:850 lung disease ISO RGD:735300 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:21330942|REF_RGD_ID:5134955 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:8577 ulcerative colitis ISO RGD:735299 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9000310 Lung Injury ISO RGD:2906 D RGD:9068941 20200609 RGD PMID:15347560|REF_RGD_ID:7257705 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:735300 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:22791342|REF_RGD_ID:7257674 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:2906 D RGD:9068941 20200609 RGD PMID:19283893|REF_RGD_ID:5129125 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:735300 D RGD:9068941 20200609 RGD PMID:19616545|REF_RGD_ID:7257694 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:2906 D RGD:9068941 20200609 RGD PMID:15840022|PMID:22882432|REF_RGD_ID:7257683|REF_RGD_ID:7257690 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9004484 Sepsis ISO RGD:735299 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:17138957 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:735300 D RGD:9068941 20200609 RGD associated with Pancreatitis PMID:17014919|REF_RGD_ID:7257703 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9004771 Vascular Remodeling ISO RGD:735299 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:27678262 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9005372 Inflammation ISO RGD:2906 D RGD:9068941 20200609 RGD PMID:15516486|REF_RGD_ID:7257704 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9005372 Inflammation ISO RGD:735300 D RGD:9068941 20200609 RGD PMID:23144964|REF_RGD_ID:7257673 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9005968 Neuralgia ISO RGD:735299 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:31432094 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9006180 WHIM Syndrome 2 ISO RGD:735299 D RGD:7240710 20210728 OMIM 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9006180 WHIM Syndrome 2 ISO RGD:735299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: WHIM syndrome 2 PMID:24777453|PMID:25741868 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:735300 D RGD:9068941 20200609 RGD PMID:20038794|REF_RGD_ID:7257679 12158316 CXCR2 C-X-C motif chemokine receptor 2 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:735299 D RGD:9068941 20210115 RGD PMID:14596426|REF_RGD_ID:7257684 12158331 PSME3 proteasome activator subunit 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1315927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12158349 MIOX myo-inositol oxygenase gene DOID:0060041 autism spectrum disorder ISO RGD:737368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12158349 MIOX myo-inositol oxygenase gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:737368 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12158349 MIOX myo-inositol oxygenase gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:737368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12158349 MIOX myo-inositol oxygenase gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:737368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12158349 MIOX myo-inositol oxygenase gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:737368 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 12158349 MIOX myo-inositol oxygenase gene DOID:10581 metachromatic leukodystrophy ISO RGD:737368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12158349 MIOX myo-inositol oxygenase gene DOID:1059 intellectual disability ISO RGD:737368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12158349 MIOX myo-inositol oxygenase gene DOID:630 genetic disease ISO RGD:737368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158365 GFRAL GDNF family receptor alpha like gene DOID:630 genetic disease ISO RGD:1604920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158378 PRRT3 proline rich transmembrane protein 3 gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1605239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 12158378 PRRT3 proline rich transmembrane protein 3 gene DOID:630 genetic disease ISO RGD:1605239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158378 PRRT3 proline rich transmembrane protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12158378 PRRT3 proline rich transmembrane protein 3 gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1605239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 12158378 PRRT3 proline rich transmembrane protein 3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1605239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:25516202|PMID:28492532 12158395 P2RY6 pyrimidinergic receptor P2Y6 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:736435 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12158395 P2RY6 pyrimidinergic receptor P2Y6 gene DOID:1059 intellectual disability ISO RGD:736435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12158430 SLC2A4RG SLC2A4 regulator gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12158430 SLC2A4RG SLC2A4 regulator gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1343076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12158430 SLC2A4RG SLC2A4 regulator gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1343076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12158430 SLC2A4RG SLC2A4 regulator gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1343076 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12158430 SLC2A4RG SLC2A4 regulator gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12158430 SLC2A4RG SLC2A4 regulator gene DOID:10283 prostate cancer ISO RGD:1343076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12158430 SLC2A4RG SLC2A4 regulator gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1343076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12158430 SLC2A4RG SLC2A4 regulator gene DOID:630 genetic disease ISO RGD:1343076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158445 IRX6 iroquois homeobox 6 gene DOID:0050777 Joubert syndrome ISO RGD:1344383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:17558409|PMID:28492532 12158445 IRX6 iroquois homeobox 6 gene DOID:630 genetic disease ISO RGD:1344383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158458 SLC2A2 solute carrier family 2 member 2 gene DOID:0080074 neural tube defect ISO RGD:11306 D RGD:9068941 20200609 RGD associated with Hyperglycemia PMID:17235524|REF_RGD_ID:2312360 12158458 SLC2A2 solute carrier family 2 member 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:730861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:17636114|PMID:24033266|PMID:25741868|PMID:26495765|PMID:27035118|PMID:28492532|PMID:34669123 12158458 SLC2A2 solute carrier family 2 member 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:730861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11810292|PMID:13480676|PMID:15397919|PMID:16199547|PMID:17636114|PMID:22145468|PMID:24033266|PMID:24718840|PMID:25741868|PMID:26495765|PMID:27035118|PMID:27487919|PMID:28492532|PMID:34669123|PMID:35738466|PMID:8027028|PMID:8063045|PMID:9354798 12158458 SLC2A2 solute carrier family 2 member 2 gene DOID:1062 Fanconi syndrome ISO RGD:730861 D RGD:7240710 20180130 OMIM 12158458 SLC2A2 solute carrier family 2 member 2 gene DOID:1062 Fanconi syndrome ISO RGD:730861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome | ClinVar Annotator: match by term: Glycogen storage disease XI PMID:10697967|PMID:10987651|PMID:11044475|PMID:11810292|PMID:13480676|PMID:14551916|PMID:15397919|PMID:16199547|PMID:17576681|PMID:17636114|PMID:18414213|PMID:22145468|PMID:23271022|PMID:23986439|PMID:24033266|PMID:24718840|PMID:25741868|PMID:26495765|PMID:27035118|PMID:27487919|PMID:27738794|PMID:28492532|PMID:34669123|PMID:3839598|PMID:6274135|PMID:7564233|PMID:7632512|PMID:8362811|PMID:9266402|PMID:9354798|PMID:9536098|PMID:9686354 12158458 SLC2A2 solute carrier family 2 member 2 gene DOID:1062 Fanconi syndrome ISO RGD:730861 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:10697967|PMID:10987651|PMID:11044475|PMID:11810292|PMID:13480676|PMID:14551916|PMID:15397919|PMID:16199547|PMID:17576681|PMID:17636114|PMID:18414213|PMID:22145468|PMID:23271022|PMID:23986439|PMID:24033266|PMID:24718840|PMID:25741868|PMID:26495765|PMID:27035118|PMID:27487919|PMID:27738794|PMID:28492532|PMID:34669123|PMID:35738466|PMID:3839598|PMID:6274135|PMID:7564233|PMID:7632512|PMID:8362811|PMID:9266402|PMID:9354798|PMID:9536098|PMID:9686354 12158458 SLC2A2 solute carrier family 2 member 2 gene DOID:1062 Fanconi syndrome ISO RGD:730861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:10697967|PMID:10987651|PMID:11044475|PMID:11810292|PMID:13480676|PMID:14551916|PMID:15397919|PMID:16199547|PMID:17576681|PMID:17636114|PMID:18414213|PMID:21271664|PMID:22145468|PMID:22214819|PMID:22865906|PMID:23271022|PMID:23986439|PMID:24033266|PMID:24718840|PMID:25741868|PMID:25919556|PMID:26495765|PMID:27035118|PMID:27487919|PMID:27738794|PMID:28492532|PMID:30950137|PMID:34669123|PMID:35738466|PMID:3839598|PMID:6274135|PMID:7564233|PMID:7632512|PMID:8027028|PMID:8063045|PMID:8362811|PMID:9266402|PMID:9354798|PMID:9536098|PMID:9686354 12158458 SLC2A2 solute carrier family 2 member 2 gene DOID:2747 glycogen storage disease ISO RGD:730861 D RGD:9068941 20200609 RGD Fanconi-Bickel syndrome,OMIM:227810;DNA:point mutation:exon:p.R365X (human) PMID:9354798|REF_RGD_ID:1624253 12158458 SLC2A2 solute carrier family 2 member 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:11306 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic duct PMID:19252908|REF_RGD_ID:2324975 12158458 SLC2A2 solute carrier family 2 member 2 gene DOID:3892 insulinoma ISO RGD:730861 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet PMID:8421107|REF_RGD_ID:2324977 12158458 SLC2A2 solute carrier family 2 member 2 gene DOID:3892 insulinoma ISO RGD:730861 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic B cell PMID:12114701|REF_RGD_ID:2324976 12158458 SLC2A2 solute carrier family 2 member 2 gene DOID:5577 gastrinoma ISO RGD:730861 D RGD:9068941 20200609 RGD PMID:12114701|REF_RGD_ID:2324976 12158458 SLC2A2 solute carrier family 2 member 2 gene DOID:5577 gastrinoma ISO RGD:730861 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet PMID:8421107|REF_RGD_ID:2324977 12158458 SLC2A2 solute carrier family 2 member 2 gene DOID:630 genetic disease ISO RGD:730861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12158458 SLC2A2 solute carrier family 2 member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8364915 12158458 SLC2A2 solute carrier family 2 member 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3705 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:9886959|REF_RGD_ID:12879480 12158458 SLC2A2 solute carrier family 2 member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3705 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:19433262|REF_RGD_ID:2312358 12158458 SLC2A2 solute carrier family 2 member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12158458 SLC2A2 solute carrier family 2 member 2 gene DOID:9007821 Glucagonoma ISO RGD:730861 D RGD:9068941 20200609 RGD PMID:12114701|REF_RGD_ID:2324976 12158458 SLC2A2 solute carrier family 2 member 2 gene DOID:9007821 Glucagonoma ISO RGD:730861 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet PMID:8421107|REF_RGD_ID:2324977 12158458 SLC2A2 solute carrier family 2 member 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579870 12158458 SLC2A2 solute carrier family 2 member 2 gene DOID:9351 diabetes mellitus ISO RGD:730861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:11810292|PMID:23986439|PMID:25741868|PMID:28492532|PMID:8027028|PMID:8063045 12158458 SLC2A2 solute carrier family 2 member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730861 D RGD:7240710 20180130 OMIM 12158458 SLC2A2 solute carrier family 2 member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11810292|PMID:13480676|PMID:15397919|PMID:16199547|PMID:17636114|PMID:22145468|PMID:24033266|PMID:24718840|PMID:25741868|PMID:26495765|PMID:27035118|PMID:27487919|PMID:28492532|PMID:34669123|PMID:35738466|PMID:8027028|PMID:8063045|PMID:9354798 12158458 SLC2A2 solute carrier family 2 member 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:730861 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:17636114|REF_RGD_ID:2312359 12158458 SLC2A2 solute carrier family 2 member 2 gene DOID:9452 fatty liver disease ISO RGD:730861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12048068 12158480 H1-1 H1.1 linker histone, cluster member gene DOID:630 genetic disease ISO RGD:1313894 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158485 CHPF chondroitin polymerizing factor gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1603198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12158485 CHPF chondroitin polymerizing factor gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1603198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12158485 CHPF chondroitin polymerizing factor gene DOID:1148 polydactyly ISO RGD:1603198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 12158485 CHPF chondroitin polymerizing factor gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1603198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12158485 CHPF chondroitin polymerizing factor gene DOID:630 genetic disease ISO RGD:1603198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158485 CHPF chondroitin polymerizing factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12158493 ERAP1 endoplasmic reticulum aminopeptidase 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732566 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12158493 ERAP1 endoplasmic reticulum aminopeptidase 1 gene DOID:10763 hypertension ISO RGD:732566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:13678427 12158493 ERAP1 endoplasmic reticulum aminopeptidase 1 gene DOID:13241 Behcet's disease ISO RGD:732566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291587 12158493 ERAP1 endoplasmic reticulum aminopeptidase 1 gene DOID:2843 long QT syndrome ISO RGD:732566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12158493 ERAP1 endoplasmic reticulum aminopeptidase 1 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:732566 D RGD:9068941 20200609 RGD PMID:15741767|REF_RGD_ID:2315693 12158493 ERAP1 endoplasmic reticulum aminopeptidase 1 gene DOID:2893 cervix carcinoma ISO RGD:732566 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:19202550|REF_RGD_ID:2315691 12158493 ERAP1 endoplasmic reticulum aminopeptidase 1 gene DOID:630 genetic disease ISO RGD:732566 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12158493 ERAP1 endoplasmic reticulum aminopeptidase 1 gene DOID:7147 ankylosing spondylitis ISO RGD:732566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17952073|PMID:20062062|PMID:21743469|PMID:23291587 12158493 ERAP1 endoplasmic reticulum aminopeptidase 1 gene DOID:8893 psoriasis ISO RGD:732566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953187|PMID:20953190|PMID:23291587|PMID:24212883 12158493 ERAP1 endoplasmic reticulum aminopeptidase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12158493 ERAP1 endoplasmic reticulum aminopeptidase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12158493 ERAP1 endoplasmic reticulum aminopeptidase 1 gene DOID:9005287 PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS ISO RGD:732566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads PMID:25683118|PMID:3527073 12158493 ERAP1 endoplasmic reticulum aminopeptidase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732566 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12158529 SLC44A3 solute carrier family 44 member 3 gene DOID:630 genetic disease ISO RGD:1602189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158560 RALBP1 ralA binding protein 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:737281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12158560 RALBP1 ralA binding protein 1 gene DOID:1059 intellectual disability ISO RGD:737281 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12158560 RALBP1 ralA binding protein 1 gene DOID:10629 microphthalmia ISO RGD:732627 D RGD:9068941 20220825 MouseDO OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 12158560 RALBP1 ralA binding protein 1 gene DOID:10763 hypertension ISO RGD:737281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23821548 12158560 RALBP1 ralA binding protein 1 gene DOID:11054 urinary bladder cancer ISO RGD:737281 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder PMID:17606711|REF_RGD_ID:2324917 12158560 RALBP1 ralA binding protein 1 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:737281 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:22509328|REF_RGD_ID:13792559 12158560 RALBP1 ralA binding protein 1 gene DOID:543 dystonia ISO RGD:737281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 12158560 RALBP1 ralA binding protein 1 gene DOID:630 genetic disease ISO RGD:737281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158560 RALBP1 ralA binding protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12158560 RALBP1 ralA binding protein 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:737281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12158576 PACS2 phosphofurin acidic cluster sorting protein 2 gene DOID:0080446 developmental and epileptic encephalopathy 66 ISO RGD:1604046 D RGD:7240710 20190315 OMIM 12158576 PACS2 phosphofurin acidic cluster sorting protein 2 gene DOID:0080446 developmental and epileptic encephalopathy 66 ISO RGD:1604046 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 66 PMID:20186691|PMID:23733235|PMID:25034272|PMID:25741868|PMID:26626314|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29656858|PMID:30290155|PMID:30904718|PMID:31036916|PMID:31231135|PMID:34782754 12158576 PACS2 phosphofurin acidic cluster sorting protein 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1604046 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:20186691|PMID:23733235|PMID:25034272|PMID:25741868|PMID:26626314|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29656858|PMID:30290155|PMID:30904718|PMID:31036916|PMID:31231135|PMID:34782754 12158576 PACS2 phosphofurin acidic cluster sorting protein 2 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1604046 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12158576 PACS2 phosphofurin acidic cluster sorting protein 2 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1604046 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 12158576 PACS2 phosphofurin acidic cluster sorting protein 2 gene DOID:1059 intellectual disability ISO RGD:1604046 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20186691|PMID:23733235|PMID:25034272|PMID:25741868|PMID:26626314|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29656858|PMID:30290155|PMID:30904718|PMID:31036916|PMID:31231135|PMID:34782754 12158576 PACS2 phosphofurin acidic cluster sorting protein 2 gene DOID:12849 autistic disorder ISO RGD:1604046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:28492532 12158576 PACS2 phosphofurin acidic cluster sorting protein 2 gene DOID:1826 epilepsy ISO RGD:1604046 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Seizure PMID:20186691|PMID:23733235|PMID:25034272|PMID:25741868|PMID:26626314|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29656858|PMID:30290155|PMID:30904718|PMID:31036916|PMID:31231135|PMID:34782754 12158576 PACS2 phosphofurin acidic cluster sorting protein 2 gene DOID:630 genetic disease ISO RGD:1604046 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:20186691|PMID:23733235|PMID:25034272|PMID:25741868|PMID:26626314|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29656858|PMID:30290155|PMID:30904718|PMID:31036916|PMID:31231135|PMID:34782754 12158616 LRRC59 leucine rich repeat containing 59 gene DOID:3068 glioblastoma ISO RGD:1605059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12158616 LRRC59 leucine rich repeat containing 59 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12158616 LRRC59 leucine rich repeat containing 59 gene DOID:630 genetic disease ISO RGD:1605059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158616 LRRC59 leucine rich repeat containing 59 gene DOID:684 hepatocellular carcinoma ISO RGD:1605059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12158616 LRRC59 leucine rich repeat containing 59 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12158616 LRRC59 leucine rich repeat containing 59 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1605059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12158627 ELK1 ETS transcription factor ELK1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12158627 ELK1 ETS transcription factor ELK1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1349633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 12158627 ELK1 ETS transcription factor ELK1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1349633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12158627 ELK1 ETS transcription factor ELK1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1349633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12158627 ELK1 ETS transcription factor ELK1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1349633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12158627 ELK1 ETS transcription factor ELK1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1349633 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12158627 ELK1 ETS transcription factor ELK1 gene DOID:10652 Alzheimer's disease ISO RGD:1349633 D RGD:9068941 20200609 RGD PMID:20126313|REF_RGD_ID:7488914 12158627 ELK1 ETS transcription factor ELK1 gene DOID:12217 Lewy body dementia ISO RGD:1349633 D RGD:9068941 20200609 RGD PMID:20126313|REF_RGD_ID:7488914 12158627 ELK1 ETS transcription factor ELK1 gene DOID:12849 autistic disorder ISO RGD:1349633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12158627 ELK1 ETS transcription factor ELK1 gene DOID:12858 Huntington's disease ISO RGD:1349633 D RGD:9068941 20200609 RGD PMID:20126313|REF_RGD_ID:7488914 12158627 ELK1 ETS transcription factor ELK1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:1598663 D RGD:9068941 20200609 RGD PMID:17091294|REF_RGD_ID:7488902 12158627 ELK1 ETS transcription factor ELK1 gene DOID:5419 schizophrenia ISO RGD:1349633 D RGD:9068941 20200609 RGD protein:increased expression:cerebellar vermis PMID:10891039|REF_RGD_ID:10047412 12158627 ELK1 ETS transcription factor ELK1 gene DOID:630 genetic disease ISO RGD:1349633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158627 ELK1 ETS transcription factor ELK1 gene DOID:9000998 Brain Injuries ISO RGD:1598663 D RGD:9068941 20200609 RGD PMID:15362724|REF_RGD_ID:7488910 12158627 ELK1 ETS transcription factor ELK1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1349633 D RGD:9068941 20200609 RGD mRNA:decreased expression:placenta PMID:20008130|REF_RGD_ID:7488901 12158644 ZNF713 zinc finger protein 713 gene DOID:12849 autistic disorder ISO RGD:1605220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12158644 ZNF713 zinc finger protein 713 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12158644 ZNF713 zinc finger protein 713 gene DOID:630 genetic disease ISO RGD:1605220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158653 FAM186B family with sequence similarity 186 member B gene DOID:12712 nephronophthisis ISO RGD:1604773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:26489029 12158653 FAM186B family with sequence similarity 186 member B gene DOID:630 genetic disease ISO RGD:1604773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12158665 SLC6A5 solute carrier family 6 member 5 gene DOID:0060695 hyperekplexia ISO RGD:732915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperekplexia PMID:16884688|PMID:24033266|PMID:25741868|PMID:28492532 12158665 SLC6A5 solute carrier family 6 member 5 gene DOID:0060698 hyperekplexia 3 ISO RGD:732915 D RGD:7240710 20180130 OMIM 12158665 SLC6A5 solute carrier family 6 member 5 gene DOID:0060698 hyperekplexia 3 ISO RGD:732915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyperekplexia 3 PMID:14622583|PMID:16199547|PMID:16751771|PMID:16884688|PMID:17576681|PMID:18707791|PMID:20301437|PMID:21515498|PMID:22114948|PMID:22700964|PMID:22753417|PMID:24033266|PMID:25640679|PMID:25741868|PMID:28492532|PMID:29859229|PMID:31370103|PMID:31604777|PMID:32714574|PMID:33310157|PMID:33794243|PMID:9536098 12158665 SLC6A5 solute carrier family 6 member 5 gene DOID:1059 intellectual disability ISO RGD:732915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12158665 SLC6A5 solute carrier family 6 member 5 gene DOID:13366 Stiff-Person syndrome ISO RGD:732915 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25480793 12158665 SLC6A5 solute carrier family 6 member 5 gene DOID:630 genetic disease ISO RGD:732915 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22700964|PMID:25741868|PMID:28492532|PMID:33794243 12158665 SLC6A5 solute carrier family 6 member 5 gene DOID:9004992 Apnea ISO RGD:732915 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25480793 12158665 SLC6A5 solute carrier family 6 member 5 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes IAGP D RGD:12801476 20211103 OMIA Hyperekplexia (Startle disease) PMID:21420493|PMID:6524730|PMID:30847549|PMID:33769611 12158665 SLC6A5 solute carrier family 6 member 5 gene DOID:936 brain disease ISO RGD:732915 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25480793 12158691 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:0060041 autism spectrum disorder ISO RGD:736752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12158691 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:0080228 autosomal dominant intellectual developmental disorder 53 ISO RGD:736752 D RGD:7240710 20190315 OMIM 12158691 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:0080228 autosomal dominant intellectual developmental disorder 53 ISO RGD:736752 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 53 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 PMID:25363768|PMID:25741868|PMID:25741872|PMID:28130356|PMID:29100089|PMID:29560374|PMID:29784083 12158691 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736752 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12158691 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:0081224 autosomal recessive intellectual developmental disorder 63 ISO RGD:736752 D RGD:7240710 20190315 OMIM 12158691 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:0081224 autosomal recessive intellectual developmental disorder 63 ISO RGD:736752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 63 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 PMID:25741868|PMID:29784083 12158691 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:1059 intellectual disability ISO RGD:736752 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25363768|PMID:25741868|PMID:28130356|PMID:29100089|PMID:29560374|PMID:29784083 12158691 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:10652 Alzheimer's disease ISO RGD:736752 D RGD:9068941 20200609 RGD PMID:15621017|REF_RGD_ID:13681926 12158691 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:14764 Larsen syndrome ISO RGD:736752 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Larsen syndrome PMID:25741868 12158691 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:224 transient cerebral ischemia ISO RGD:10284 D RGD:9068941 20200609 RGD PMID:12199152|REF_RGD_ID:13681927 12158691 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:224 transient cerebral ischemia ISO RGD:2261 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:12951199|REF_RGD_ID:7241547 12158691 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:3070 high grade glioma disease_progression ISO RGD:736752 D RGD:9068941 20200609 RGD PMID:29393370|REF_RGD_ID:13702478 12158691 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:3312 bipolar disorder ISO RGD:10284 D RGD:9068941 20220825 MouseDO 12158691 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:3525 middle cerebral artery infarction ISO RGD:2261 D RGD:9068941 20200609 RGD PMID:14688616|REF_RGD_ID:1358416 12158691 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:630 genetic disease ISO RGD:736752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158691 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:700 mitochondrial metabolism disease ISO RGD:736752 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 12158691 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:893 Wilson disease ISO RGD:736752 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 12158691 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:9002211 Hyperalgesia ISO RGD:2261 D RGD:9068941 20200609 RGD PMID:18042863|REF_RGD_ID:7240711 12158691 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:9002211 Hyperalgesia ISO RGD:736752 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20053885 12158691 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:9004673 Hearing Loss, Cisplatin-Induced treatment ISO RGD:2261 D RGD:9068941 20200609 RGD PMID:23558232|REF_RGD_ID:9685025 12158691 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:9005369 Hepatomegaly ISO RGD:736752 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12158691 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:9005372 Inflammation ISO RGD:2261 D RGD:9068941 20200609 RGD protein:increased expression:axon PMID:12176168|REF_RGD_ID:9685027 12158691 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:9005632 Cocaine-Related Disorders ISO RGD:736752 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14725635 12158691 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12158691 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736752 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12158691 CAMK2A calcium/calmodulin dependent protein kinase II alpha gene DOID:9008086 Developmental Disabilities ISO RGD:736752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741872 12158715 JMJD7 jumonji domain containing 7 gene DOID:2717 Bloom syndrome ISO RGD:2298734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12158715 JMJD7 jumonji domain containing 7 gene DOID:630 genetic disease ISO RGD:2298734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158715 JMJD7 jumonji domain containing 7 gene DOID:9256 colorectal cancer ISO RGD:2298734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12158731 HPDL 4-hydroxyphenylpyruvate dioxygenase like gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12158731 HPDL 4-hydroxyphenylpyruvate dioxygenase like gene DOID:0050952 spastic ataxia ISO RGD:1606204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:32707086|PMID:33970200 12158731 HPDL 4-hydroxyphenylpyruvate dioxygenase like gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1606204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:16557584|PMID:17949294|PMID:19806110|PMID:25820570|PMID:28492532 12158731 HPDL 4-hydroxyphenylpyruvate dioxygenase like gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12158731 HPDL 4-hydroxyphenylpyruvate dioxygenase like gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12158731 HPDL 4-hydroxyphenylpyruvate dioxygenase like gene DOID:0112346 hereditary spastic paraplegia 83 ISO RGD:1606204 D RGD:7240710 20201007 OMIM 12158731 HPDL 4-hydroxyphenylpyruvate dioxygenase like gene DOID:0112346 hereditary spastic paraplegia 83 ISO RGD:1606204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 83, autosomal recessive PMID:25741868|PMID:32707086|PMID:33970200 12158731 HPDL 4-hydroxyphenylpyruvate dioxygenase like gene DOID:1289 neurodegenerative disease ISO RGD:1332429 D RGD:9068941 20230406 MouseDO 12158731 HPDL 4-hydroxyphenylpyruvate dioxygenase like gene DOID:607 paraplegia ISO RGD:1606204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:32707086|PMID:33188300|PMID:33970200 12158731 HPDL 4-hydroxyphenylpyruvate dioxygenase like gene DOID:630 genetic disease ISO RGD:1606204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32707086|PMID:33188300|PMID:33970200 12158731 HPDL 4-hydroxyphenylpyruvate dioxygenase like gene DOID:9004548 Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities ISO RGD:1606204 D RGD:7240710 20201216 OMIM 12158731 HPDL 4-hydroxyphenylpyruvate dioxygenase like gene DOID:9004548 Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities ISO RGD:1606204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities PMID:25741868|PMID:32707086|PMID:33188300|PMID:33634263|PMID:33970200|PMID:9084927|PMID:9973289 12158737 ADM5 adrenomedullin 5 (putative) gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:3499499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12158737 ADM5 adrenomedullin 5 (putative) gene DOID:630 genetic disease ISO RGD:3499499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158748 IVL involucrin gene DOID:0111940 immunodeficiency 42 ISO RGD:1314662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12158748 IVL involucrin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12158748 IVL involucrin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12158748 IVL involucrin gene DOID:1540 parathyroid carcinoma ISO RGD:1314662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12158748 IVL involucrin gene DOID:1749 squamous cell carcinoma ISO RGD:1314662 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 12158748 IVL involucrin gene DOID:5812 MHC class II deficiency ISO RGD:1314662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12158748 IVL involucrin gene DOID:630 genetic disease ISO RGD:1314662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158748 IVL involucrin gene DOID:9004464 Skin Neoplasms ISO RGD:1314662 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 12158748 IVL involucrin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12158831 SFXN4 sideroflexin 4 gene DOID:0111484 combined oxidative phosphorylation deficiency 18 ISO RGD:1314503 D RGD:7240710 20180130 OMIM 12158831 SFXN4 sideroflexin 4 gene DOID:0111484 combined oxidative phosphorylation deficiency 18 ISO RGD:1314503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome PMID:16199547|PMID:24119684|PMID:25741868|PMID:28492532 12158831 SFXN4 sideroflexin 4 gene DOID:630 genetic disease ISO RGD:1314503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12158849 SIM1 SIM bHLH transcription factor 1 gene DOID:0050581 brachydactyly ISO RGD:1320567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly 12158849 SIM1 SIM bHLH transcription factor 1 gene DOID:0111715 Schaaf-Yang syndrome ISO RGD:1320567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schaaf-Yang syndrome 12158849 SIM1 SIM bHLH transcription factor 1 gene DOID:10907 microcephaly ISO RGD:1320567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12158849 SIM1 SIM bHLH transcription factor 1 gene DOID:13501 Moebius syndrome ISO RGD:1320567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum PMID:2152513|PMID:23778139|PMID:25234154|PMID:25741868|PMID:28492532 12158849 SIM1 SIM bHLH transcription factor 1 gene DOID:4195 hyperglycemia ISO RGD:1320567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18056790 12158849 SIM1 SIM bHLH transcription factor 1 gene DOID:630 genetic disease ISO RGD:1320567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:2152513|PMID:23778139|PMID:25234154|PMID:25741868 12158849 SIM1 SIM bHLH transcription factor 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:1320567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: SIM1-associated metabolic syndrome 12158849 SIM1 SIM bHLH transcription factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1320567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15818620 12158849 SIM1 SIM bHLH transcription factor 1 gene DOID:9351 diabetes mellitus ISO RGD:1320567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:16924270|PMID:21512513|PMID:2152513|PMID:23778136|PMID:23778139|PMID:25234154|PMID:25741868|PMID:28492532 12158849 SIM1 SIM bHLH transcription factor 1 gene DOID:9970 obesity ISO RGD:1320567 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency PMID:16924270|PMID:19401419|PMID:21512513|PMID:2152513|PMID:23778136|PMID:23778139|PMID:24097297|PMID:25234154|PMID:25741868|PMID:26795956|PMID:28492532|PMID:29216354|PMID:30991789 12158867 PURG purine rich element binding protein G gene DOID:5688 Werner syndrome ISO RGD:1312911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Werner syndrome 12158867 PURG purine rich element binding protein G gene DOID:630 genetic disease ISO RGD:1312911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158881 UBN1 ubinuclein 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1323115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 12158881 UBN1 ubinuclein 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1323115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 12158912 PLEKHO1 pleckstrin homology domain containing O1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12158912 PLEKHO1 pleckstrin homology domain containing O1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12158912 PLEKHO1 pleckstrin homology domain containing O1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12158912 PLEKHO1 pleckstrin homology domain containing O1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12158912 PLEKHO1 pleckstrin homology domain containing O1 gene DOID:3312 bipolar disorder ISO RGD:1606003 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12158912 PLEKHO1 pleckstrin homology domain containing O1 gene DOID:5812 MHC class II deficiency ISO RGD:1606003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12158912 PLEKHO1 pleckstrin homology domain containing O1 gene DOID:630 genetic disease ISO RGD:1606003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158912 PLEKHO1 pleckstrin homology domain containing O1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12158927 MRFAP1 Morf4 family associated protein 1 gene DOID:630 genetic disease ISO RGD:1606988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158938 C9H17orf99 chromosome 9 C17orf99 homolog gene DOID:630 genetic disease ISO RGD:2299182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158948 LY6E lymphocyte antigen 6 family member E gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1351321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 12158948 LY6E lymphocyte antigen 6 family member E gene DOID:1793 pancreatic cancer ISO RGD:1351321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17446842 12158948 LY6E lymphocyte antigen 6 family member E gene DOID:4621 holoprosencephaly ISO RGD:1351321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12158948 LY6E lymphocyte antigen 6 family member E gene DOID:630 genetic disease ISO RGD:1351321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158948 LY6E lymphocyte antigen 6 family member E gene DOID:9001488 Human Influenza ISO RGD:1351321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12158958 CCL22 C-C motif chemokine ligand 22 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351526 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12158958 CCL22 C-C motif chemokine ligand 22 gene DOID:0060704 lymphoproliferative syndrome ISO RGD:1351526 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35534561 12158958 CCL22 C-C motif chemokine ligand 22 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351526 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12158958 CCL22 C-C motif chemokine ligand 22 gene DOID:106 pleural tuberculosis ISO RGD:1351526 D RGD:9068941 20200609 RGD PMID:20337996|REF_RGD_ID:4891473 12158958 CCL22 C-C motif chemokine ligand 22 gene DOID:1324 lung cancer disease_progression ISO RGD:1351526 D RGD:9068941 20200609 RGD PMID:16453150|REF_RGD_ID:4891472 12158958 CCL22 C-C motif chemokine ligand 22 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1351526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12158958 CCL22 C-C motif chemokine ligand 22 gene DOID:2799 bronchiolitis obliterans ISO RGD:1351526 D RGD:9068941 20200609 RGD PMID:20628341|REF_RGD_ID:4891471 12158958 CCL22 C-C motif chemokine ligand 22 gene DOID:2841 asthma ISO RGD:1351526 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion PMID:18684970|REF_RGD_ID:4145489 12158958 CCL22 C-C motif chemokine ligand 22 gene DOID:2841 asthma ISO RGD:1551080 D RGD:9068941 20200609 RGD PMID:10384142|REF_RGD_ID:4891475 12158958 CCL22 C-C motif chemokine ligand 22 gene DOID:2841 asthma ISO RGD:1551080 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:18316417|REF_RGD_ID:4891474 12158958 CCL22 C-C motif chemokine ligand 22 gene DOID:2841 asthma ISO RGD:619933 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 12158958 CCL22 C-C motif chemokine ligand 22 gene DOID:289 endometriosis ISO RGD:1351526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30579999 12158958 CCL22 C-C motif chemokine ligand 22 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1351526 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion PMID:18684970|REF_RGD_ID:4145489 12158958 CCL22 C-C motif chemokine ligand 22 gene DOID:3310 atopic dermatitis ISO RGD:1351526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437|PMID:22125604 12158958 CCL22 C-C motif chemokine ligand 22 gene DOID:3744 cervical squamous cell carcinoma severity ISO RGD:1351526 D RGD:9068941 20200807 RGD PMID:28086903|REF_RGD_ID:38455996 12158958 CCL22 C-C motif chemokine ligand 22 gene DOID:3770 pulmonary fibrosis ISO RGD:1351526 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:19715610|REF_RGD_ID:4145488 12158958 CCL22 C-C motif chemokine ligand 22 gene DOID:3770 pulmonary fibrosis ISO RGD:619933 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 12158958 CCL22 C-C motif chemokine ligand 22 gene DOID:4483 rhinitis ISO RGD:1351526 D RGD:9068941 20200609 RGD protein:increased expression:blood, mononuclear cell PMID:17517104|REF_RGD_ID:4145498 12158958 CCL22 C-C motif chemokine ligand 22 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:619933 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus PMID:12651599|REF_RGD_ID:2306306 12158958 CCL22 C-C motif chemokine ligand 22 gene DOID:552 pneumonia ISO RGD:619933 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 12158958 CCL22 C-C motif chemokine ligand 22 gene DOID:630 genetic disease ISO RGD:1351526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158958 CCL22 C-C motif chemokine ligand 22 gene DOID:7148 rheumatoid arthritis ISO RGD:1351526 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:19942450|REF_RGD_ID:10054497 12158958 CCL22 C-C motif chemokine ligand 22 gene DOID:8398 osteoarthritis ISO RGD:1351526 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:19942450|REF_RGD_ID:10054497 12158958 CCL22 C-C motif chemokine ligand 22 gene DOID:9000641 Pain ISO RGD:619933 D RGD:9068941 20200609 RGD PMID:11438578|REF_RGD_ID:2306307 12158958 CCL22 C-C motif chemokine ligand 22 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1551080 D RGD:9068941 20200609 RGD associated with Mycobacterium Infections PMID:12600821|REF_RGD_ID:4145441 12158958 CCL22 C-C motif chemokine ligand 22 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1551080 D RGD:9068941 20200609 RGD associated with Schistosomiasis mansoni PMID:15466387|REF_RGD_ID:4145515 12158958 CCL22 C-C motif chemokine ligand 22 gene DOID:9008604 Radiation Pneumonitis ISO RGD:619933 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, alveolar macrophage PMID:15293604|REF_RGD_ID:4145517 12158985 OBP2B odorant binding protein 2B gene DOID:0050777 Joubert syndrome ISO RGD:1344178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12158985 OBP2B odorant binding protein 2B gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1344178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12158985 OBP2B odorant binding protein 2B gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1344178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12158985 OBP2B odorant binding protein 2B gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1344178 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12158985 OBP2B odorant binding protein 2B gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1344178 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12158985 OBP2B odorant binding protein 2B gene DOID:0081097 Rafiq syndrome ISO RGD:1344178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12158985 OBP2B odorant binding protein 2B gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1344178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12158985 OBP2B odorant binding protein 2B gene DOID:3652 Leigh disease ISO RGD:1344178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12158985 OBP2B odorant binding protein 2B gene DOID:630 genetic disease ISO RGD:1344178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12158985 OBP2B odorant binding protein 2B gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1344178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 12158997 REN renin gene DOID:0050477 Liddle syndrome ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12185466 12158997 REN renin gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:736366 D RGD:9068941 20210402 RGD protein:increased expression:blood serum (human) PMID:31505456|REF_RGD_ID:125097501 12158997 REN renin gene DOID:0060001 withdrawal disorder ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28415 12158997 REN renin gene DOID:0060180 colitis treatment ISO RGD:1332384 D RGD:9068941 20210402 RGD PMID:24858618|REF_RGD_ID:125097500 12158997 REN renin gene DOID:0060224 atrial fibrillation ISO RGD:736366 D RGD:9068941 20200609 RGD associated with Rheumatic Heart Disease; protein:increased activity:plasma (human) PMID:21911268|REF_RGD_ID:6892701 12158997 REN renin gene DOID:0080827 human cytomegalovirus infection ISO RGD:736366 D RGD:9068941 20210402 RGD protein:decreased expression:blood plasma (human) PMID:29752343|REF_RGD_ID:40400905 12158997 REN renin gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:736366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12158997 REN renin gene DOID:1074 kidney failure ISO RGD:1332384 D RGD:9068941 20210402 RGD PMID:28533331|REF_RGD_ID:39939034 12158997 REN renin gene DOID:10762 portal hypertension ISO RGD:736366 D RGD:9068941 20200609 RGD PMID:12854169|REF_RGD_ID:1580698 12158997 REN renin gene DOID:10763 hypertension ISO RGD:1332384 D RGD:9068941 20200609 RGD PMID:22681982|REF_RGD_ID:6784501 12158997 REN renin gene DOID:10763 hypertension ISO RGD:1332384 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (mouse) PMID:22493079|REF_RGD_ID:6892655 12158997 REN renin gene DOID:10763 hypertension ISO RGD:3554 D RGD:9068941 20200609 RGD PMID:16467505|REF_RGD_ID:1580671 12158997 REN renin gene DOID:10763 hypertension ISO RGD:736366 D RGD:9068941 20200609 RGD PMID:16138564|REF_RGD_ID:1580697 12158997 REN renin gene DOID:10763 hypertension ISO RGD:736366 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:1071603|PMID:1149188|PMID:11501062|PMID:12414515|PMID:12600921|PMID:17537837|PMID:18679781|PMID:18847324|PMID:19770776|PMID:19934029|PMID:20429690|PMID:20811386|PMID:21393355|PMID:45830|PMID:62162|PMID:6381767|PMID:7721401|PMID:998518 12158997 REN renin gene DOID:10824 malignant hypertension ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2493837 12158997 REN renin gene DOID:10825 essential hypertension ISO RGD:736366 D RGD:9068941 20210402 RGD PMID:1152295|REF_RGD_ID:125097505 12158997 REN renin gene DOID:10881 hand, foot and mouth disease treatment ISO RGD:736366 D RGD:9068941 20210625 RGD PMID:31638922|REF_RGD_ID:127285374 12158997 REN renin gene DOID:11476 osteoporosis ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18847324 12158997 REN renin gene DOID:1184 nephrotic syndrome ISO RGD:736366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 12158997 REN renin gene DOID:12236 primary biliary cholangitis ISO RGD:3554 D RGD:9068941 20200609 RGD protein:increased activity:plasma (rat) PMID:22266601|REF_RGD_ID:6892690 12158997 REN renin gene DOID:12849 autistic disorder ISO RGD:736366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12158997 REN renin gene DOID:14115 toxic shock syndrome exacerbates ISO RGD:736366 D RGD:9068941 20210402 RGD protein:increased activity:blood plasma (human) PMID:31723628|REF_RGD_ID:125097502 12158997 REN renin gene DOID:1540 parathyroid carcinoma ISO RGD:736366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12158997 REN renin gene DOID:1591 renovascular hypertension ISO RGD:1332384 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (mouse) PMID:22378822|REF_RGD_ID:6892688 12158997 REN renin gene DOID:1591 renovascular hypertension ISO RGD:736366 D RGD:9068941 20210402 RGD protein:increased activity:blood plasma (human) PMID:2240003|REF_RGD_ID:125097504 12158997 REN renin gene DOID:1596 depressive disorder ISO RGD:736366 D RGD:9068941 20210402 RGD Associated with hypertension;protein:decreased activity:blood (human) PMID:29960014|REF_RGD_ID:125097507 12158997 REN renin gene DOID:2355 anemia ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3524928 12158997 REN renin gene DOID:2527 nephrosis ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2046802|PMID:6358456 12158997 REN renin gene DOID:3021 acute kidney failure exacerbates ISO RGD:736366 D RGD:9068941 20210402 RGD Associated with toxic shock syndrome;protein:increased expression:blood plasma (human) PMID:30407370|REF_RGD_ID:125097506 12158997 REN renin gene DOID:326 ischemia ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3915608 12158997 REN renin gene DOID:3388 periodontal disease treatment ISO RGD:1332384 D RGD:9068941 20210402 RGD Associated with Diabetes Mellitus, experimental PMID:31333451|REF_RGD_ID:125097482 12158997 REN renin gene DOID:445 Bartter disease ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15976003|PMID:3519017|PMID:929154 12158997 REN renin gene DOID:446 primary hyperaldosteronism ISO RGD:736366 D RGD:9068941 20210514 RGD protein:increased activity:blood plasma (human) PMID:15080782|REF_RGD_ID:126908012 12158997 REN renin gene DOID:5082 liver cirrhosis ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15613622 12158997 REN renin gene DOID:557 kidney disease ISO RGD:736366 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 12158997 REN renin gene DOID:576 proteinuria ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2046802|PMID:464098 12158997 REN renin gene DOID:5844 myocardial infarction ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1668233 12158997 REN renin gene DOID:5844 myocardial infarction susceptibility ISO RGD:736366 D RGD:9068941 20200609 RGD associated with Hypertension; protein:increased activity:plasma (human) PMID:1759997|REF_RGD_ID:6892687 12158997 REN renin gene DOID:6000 congestive heart failure ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1647690|PMID:20811386|PMID:7034517 12158997 REN renin gene DOID:6000 congestive heart failure exacerbates ISO RGD:736366 D RGD:9068941 20210514 RGD protein:increased activity:blood plasma (human) PMID:17526990|REF_RGD_ID:126908011 12158997 REN renin gene DOID:630 genetic disease ISO RGD:736366 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21473025|PMID:25741868|PMID:28492532 12158997 REN renin gene DOID:687 hepatoblastoma ISO RGD:736366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 12158997 REN renin gene DOID:8544 chronic fatigue syndrome ISO RGD:736366 D RGD:9068941 20200609 RGD associated with Postural Orthostatic Tachycardia Syndrome; protein:increased activity:plasma (human) PMID:21906029|REF_RGD_ID:6892702 12158997 REN renin gene DOID:8893 psoriasis ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3540694 12158997 REN renin gene DOID:9000445 Azotemia ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6338847 12158997 REN renin gene DOID:9000784 Fibrosis ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12414515 12158997 REN renin gene DOID:9001542 Albuminuria ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12414515|PMID:18679781 12158997 REN renin gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:3554 D RGD:9068941 20200609 RGD PMID:24709336|REF_RGD_ID:11039406 12158997 REN renin gene DOID:9001827 Critical Illness exacerbates ISO RGD:736366 D RGD:9068941 20210402 RGD protein:increased activity:blood plasma (human) PMID:30653055|REF_RGD_ID:125097479 12158997 REN renin gene DOID:9002165 Diabetic Nephropathies ISO RGD:3554 D RGD:9068941 20200609 RGD PMID:15489960|REF_RGD_ID:1579795 12158997 REN renin gene DOID:9002231 Fetal Growth Retardation ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17537837 12158997 REN renin gene DOID:9003936 Cardiomegaly ISO RGD:1332384 D RGD:9068941 20200609 RGD mRNA:increased expression:heart, kidney (mouse) PMID:15367398|REF_RGD_ID:6771378 12158997 REN renin gene DOID:9003936 Cardiomegaly ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20429690|PMID:20811386 12158997 REN renin gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736366 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12158997 REN renin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3554 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (rat) PMID:22796710|REF_RGD_ID:6771379 12158997 REN renin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18679781|PMID:8349331 12158997 REN renin gene DOID:9005373 Autosomal Dominant Tubulointerstitial Kidney Disease 4 ISO RGD:736366 D RGD:7240710 20180130 OMIM 12158997 REN renin gene DOID:9005373 Autosomal Dominant Tubulointerstitial Kidney Disease 4 ISO RGD:736366 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: EARLY-ONSET HYPERURICEMIA, ANEMIA, AND PROGRESSIVE KIDNEY FAILURE | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4 PMID:16116425|PMID:19664745|PMID:21084044|PMID:21473025|PMID:22095942|PMID:25741868|PMID:28492532|PMID:32750457|PMID:33532864 12158997 REN renin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18829990 12158997 REN renin gene DOID:9005721 Preeclamptic Toxemia ISO RGD:736366 D RGD:9068941 20210402 RGD protein:increased activity:blood plasma (human) PMID:683663|REF_RGD_ID:125097480 12158997 REN renin gene DOID:9005930 Endotoxemia ISO RGD:1332384 D RGD:9068941 20210402 RGD protein:increased activity:blood plasma (mouse) PMID:30027346|REF_RGD_ID:125097481 12158997 REN renin gene DOID:9005930 Endotoxemia ISO RGD:3554 D RGD:9068941 20210402 RGD protein:increased activity:blood plasma (rat) PMID:16512638|REF_RGD_ID:125097499 12158997 REN renin gene DOID:9006024 Hypotension ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11171655|PMID:3536153|PMID:6251761 12158997 REN renin gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:736366 D RGD:7240710 20180130 OMIM 12158997 REN renin gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:736366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal tubular dysgenesis | ClinVar Annotator: match by term: Renal tubular dysgenesis of genetic origin PMID:16116425|PMID:17443344|PMID:21036942|PMID:22095942|PMID:25741868|PMID:28492532|PMID:32750457|PMID:33532864 12158997 REN renin gene DOID:9006635 Hyponatremia ISO RGD:3554 D RGD:9068941 20210402 RGD protein: increased activity:blood plasma (rat) PMID:25841323|REF_RGD_ID:125097503 12158997 REN renin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8723173 12158997 REN renin gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:3554 D RGD:9068941 20200609 RGD PMID:8446257|REF_RGD_ID:11039400 12158997 REN renin gene DOID:9008217 Hemorrhage ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6991409 12158997 REN renin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12158997 REN renin gene DOID:9970 obesity ISO RGD:736366 D RGD:9068941 20200609 RGD mRNA:increased expression:abdomen, subcutaneous adipose tissue, mesenchymal stem cell (human) PMID:22648117|REF_RGD_ID:6784503 12159018 NCAPH non-SMC condensin I complex subunit H gene DOID:0080600 COVID-19 ISO RGD:1352198 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12159018 NCAPH non-SMC condensin I complex subunit H gene DOID:1059 intellectual disability ISO RGD:1352198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12159018 NCAPH non-SMC condensin I complex subunit H gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352198 D RGD:9068941 20220225 RGD protein:decreased expression:lung (human) PMID:32945371|REF_RGD_ID:151356931 12159018 NCAPH non-SMC condensin I complex subunit H gene DOID:5419 schizophrenia ISO RGD:1352198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12159018 NCAPH non-SMC condensin I complex subunit H gene DOID:630 genetic disease ISO RGD:1352198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12159018 NCAPH non-SMC condensin I complex subunit H gene DOID:684 hepatocellular carcinoma ISO RGD:1352198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12159018 NCAPH non-SMC condensin I complex subunit H gene DOID:9002582 Primary Autosomal Recessive Microcephaly 23 ISO RGD:1352198 D RGD:7240710 20190315 OMIM 12159018 NCAPH non-SMC condensin I complex subunit H gene DOID:9002582 Primary Autosomal Recessive Microcephaly 23 ISO RGD:1352198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 23, primary, autosomal recessive PMID:25741868|PMID:27737959 12159047 NPRL2 NPR2 like, GATOR1 complex subunit gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532|PMID:30410802 12159047 NPRL2 NPR2 like, GATOR1 complex subunit gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532|PMID:30410802 12159047 NPRL2 NPR2 like, GATOR1 complex subunit gene DOID:12716 newborn respiratory distress syndrome ISO RGD:1318978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:25741868 12159047 NPRL2 NPR2 like, GATOR1 complex subunit gene DOID:1826 epilepsy ISO RGD:1318978 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26505888|PMID:27173016|PMID:28199897|PMID:30093711|PMID:31639411|PMID:33461085 12159047 NPRL2 NPR2 like, GATOR1 complex subunit gene DOID:5419 schizophrenia ISO RGD:1318978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12159047 NPRL2 NPR2 like, GATOR1 complex subunit gene DOID:630 genetic disease ISO RGD:1318978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26505888|PMID:27173016|PMID:28199897|PMID:28492532|PMID:30093711|PMID:31639411|PMID:33461085 12159047 NPRL2 NPR2 like, GATOR1 complex subunit gene DOID:9000342 Familial Focal Epilepsy, with Variable Foci 2 ISO RGD:1318978 D RGD:7240710 20190315 OMIM 12159047 NPRL2 NPR2 like, GATOR1 complex subunit gene DOID:9000342 Familial Focal Epilepsy, with Variable Foci 2 ISO RGD:1318978 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 2 PMID:25741868|PMID:26505888|PMID:27173016|PMID:28199897|PMID:30093711|PMID:31639411|PMID:33461085 12159047 NPRL2 NPR2 like, GATOR1 complex subunit gene DOID:9001601 Familial Focal Epilepsy, with Variable Foci 1 ISO RGD:1318978 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial focal epilepsy with variable foci PMID:25741868 12159047 NPRL2 NPR2 like, GATOR1 complex subunit gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12159064 SQOR sulfide quinone oxidoreductase gene DOID:0080600 COVID-19 ISO RGD:1353757 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12159064 SQOR sulfide quinone oxidoreductase gene DOID:2717 Bloom syndrome ISO RGD:1353757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12159064 SQOR sulfide quinone oxidoreductase gene DOID:630 genetic disease ISO RGD:1353757 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12159064 SQOR sulfide quinone oxidoreductase gene DOID:9008341 SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY ISO RGD:1353757 D RGD:7240710 20210421 OMIM 12159064 SQOR sulfide quinone oxidoreductase gene DOID:9008341 SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY ISO RGD:1353757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY PMID:32160317 12159064 SQOR sulfide quinone oxidoreductase gene DOID:9256 colorectal cancer ISO RGD:1353757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12159084 MYO5A myosin VA gene DOID:0060832 Griscelli syndrome type 1 ISO RGD:731453 D RGD:7240710 20180130 OMIM 12159084 MYO5A myosin VA gene DOID:0060832 Griscelli syndrome type 1 ISO RGD:731453 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 1 PMID:10704277|PMID:12058346|PMID:17576681|PMID:25326635|PMID:25741868|PMID:28492532|PMID:32275080|PMID:9207796|PMID:9536098 12159084 MYO5A myosin VA gene DOID:0060834 Griscelli syndrome type 3 ISO RGD:731453 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 3 PMID:12148598|PMID:12897212|PMID:22711375|PMID:25283056 12159084 MYO5A myosin VA gene DOID:1059 intellectual disability ISO RGD:731453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12159084 MYO5A myosin VA gene DOID:2717 Bloom syndrome ISO RGD:731453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12159084 MYO5A myosin VA gene DOID:543 dystonia ISO RGD:731453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder 12159084 MYO5A myosin VA gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:731453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12159084 MYO5A myosin VA gene DOID:574 peripheral nervous system disease ISO RGD:731453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 12159084 MYO5A myosin VA gene DOID:607 paraplegia ISO RGD:731453 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 12159084 MYO5A myosin VA gene DOID:630 genetic disease ISO RGD:731453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12159084 MYO5A myosin VA gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12159084 MYO5A myosin VA gene DOID:9005835 Congenital Abnormalities no_association ISO RGD:731453 D RGD:9068941 20200609 RGD Griscelli syndrome type I. OMIM:214450 PMID:12058346|REF_RGD_ID:1600821 12159084 MYO5A myosin VA gene DOID:9256 colorectal cancer ISO RGD:731453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12159133 LIPC lipase C, hepatic type gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:736877 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:12777476|PMID:1671786|PMID:1883393|PMID:21986251|PMID:23685560|PMID:24033266|PMID:24497850|PMID:24633158|PMID:25741868|PMID:25995285|PMID:28492532|PMID:28870971|PMID:30333156|PMID:8123642|PMID:8732782 12159133 LIPC lipase C, hepatic type gene DOID:10652 Alzheimer's disease ISO RGD:736877 D RGD:9068941 20200609 RGD DNA:SNPs: :rs6084 (human) PMID:17175070|REF_RGD_ID:1600644 12159133 LIPC lipase C, hepatic type gene DOID:10652 Alzheimer's disease no_association ISO RGD:736877 D RGD:9068941 20200609 RGD DNA:SNPs: :rs6074, rs6083, rs6084 (human) PMID:17175070|REF_RGD_ID:1600644 12159133 LIPC lipase C, hepatic type gene DOID:1168 familial hyperlipidemia ISO RGD:3009 D RGD:9068941 20200609 RGD protein:reduced expression:plasma (rat) PMID:12935429|REF_RGD_ID:1581787 12159133 LIPC lipase C, hepatic type gene DOID:1168 familial hyperlipidemia ISO RGD:736877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1883393 12159133 LIPC lipase C, hepatic type gene DOID:11801 protein-energy malnutrition ISO RGD:3009 D RGD:9068941 20200609 RGD protein:reduced expression:plasma (rat) PMID:7666262|REF_RGD_ID:2308792 12159133 LIPC lipase C, hepatic type gene DOID:1184 nephrotic syndrome ISO RGD:3009 D RGD:9068941 20200609 RGD protein, mRNA:reduced expression:liver (rat) PMID:9186885|REF_RGD_ID:2308789 12159133 LIPC lipase C, hepatic type gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:3009 D RGD:9068941 20200609 RGD protein:reduced expression:serum (rat) PMID:14531811|REF_RGD_ID:2308781 12159133 LIPC lipase C, hepatic type gene DOID:13809 familial combined hyperlipidemia ISO RGD:736877 D RGD:9068941 20200609 RGD PMID:16338252|REF_RGD_ID:1580512 12159133 LIPC lipase C, hepatic type gene DOID:1459 hypothyroidism ISO RGD:3009 D RGD:9068941 20200609 RGD mRNA, protein:reduced expression:hepatocyte, extracellular space (rat) PMID:9106496|REF_RGD_ID:2308790 12159133 LIPC lipase C, hepatic type gene DOID:1459 hypothyroidism ISO RGD:3009 D RGD:9068941 20200609 RGD protein:reduced expression:plasma (rat) PMID:12841343|REF_RGD_ID:2308783 12159133 LIPC lipase C, hepatic type gene DOID:2018 hyperinsulinism ISO RGD:3009 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat) PMID:7047662|REF_RGD_ID:2308800 12159133 LIPC lipase C, hepatic type gene DOID:2018 hyperinsulinism ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human) PMID:11095452|PMID:1592086|REF_RGD_ID:2308794|REF_RGD_ID:2308844 12159133 LIPC lipase C, hepatic type gene DOID:2237 hepatitis ISO RGD:3009 D RGD:9068941 20200609 RGD protein:reduced expression:plasma (rat) PMID:7078435|REF_RGD_ID:2308799 12159133 LIPC lipase C, hepatic type gene DOID:2717 Bloom syndrome ISO RGD:736877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12159133 LIPC lipase C, hepatic type gene DOID:3146 lipid metabolism disorder ISO RGD:736877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292318|PMID:1671786|PMID:1883393 12159133 LIPC lipase C, hepatic type gene DOID:326 ischemia ISO RGD:3009 D RGD:9068941 20200609 RGD protein:decreased expression:liver (rat) PMID:1918876|REF_RGD_ID:2308796 12159133 LIPC lipase C, hepatic type gene DOID:3393 coronary artery disease ISO RGD:736877 D RGD:9068941 20200609 RGD 250G/A PMID:15099346|REF_RGD_ID:1600663 12159133 LIPC lipase C, hepatic type gene DOID:3393 coronary artery disease ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; DNA:transition:promoter:-480C>T (human) PMID:11916946|REF_RGD_ID:2308839 12159133 LIPC lipase C, hepatic type gene DOID:3393 coronary artery disease no_association ISO RGD:736877 D RGD:9068941 20200609 RGD C514T PMID:12689525|REF_RGD_ID:1600664 12159133 LIPC lipase C, hepatic type gene DOID:341 peripheral vascular disease ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:transition:promoter:-250G>A (human) PMID:18413186|REF_RGD_ID:2308822 12159133 LIPC lipase C, hepatic type gene DOID:557 kidney disease resistance ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; DNA:transition:promoter:-514C>T (human) PMID:16928730|REF_RGD_ID:2308823 12159133 LIPC lipase C, hepatic type gene DOID:557 kidney disease susceptibility ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:transition:promoter:-514C>T (human) PMID:15983323|REF_RGD_ID:2308828 12159133 LIPC lipase C, hepatic type gene DOID:630 genetic disease ISO RGD:736877 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28106320|PMID:28492532 12159133 LIPC lipase C, hepatic type gene DOID:783 end stage renal disease ISO RGD:3009 D RGD:9068941 20200609 RGD protein, mRNA:decreased expression:hepatocytes, liver (rat) PMID:8636395|REF_RGD_ID:2308788 12159133 LIPC lipase C, hepatic type gene DOID:9000528 Coronary Disease susceptibility ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Obesity and Diabetes; DNA:transition:promoter:-514C>T (human) PMID:16570154|REF_RGD_ID:2308824 12159133 LIPC lipase C, hepatic type gene DOID:9000808 Hypercholesterolemia ISO RGD:10871 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:liver (mouse) PMID:11279518|REF_RGD_ID:2308841 12159133 LIPC lipase C, hepatic type gene DOID:9000808 Hypercholesterolemia ISO RGD:3009 D RGD:9068941 20200609 RGD protein, mRNA:decreased expression:plasma, liver (rat) PMID:7830494|REF_RGD_ID:2308793 12159133 LIPC lipase C, hepatic type gene DOID:9000808 Hypercholesterolemia ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; protein:decreased expression:plasma (human) PMID:6340423|REF_RGD_ID:2308850 12159133 LIPC lipase C, hepatic type gene DOID:9001542 Albuminuria ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma (human) PMID:8666151|REF_RGD_ID:2308836 12159133 LIPC lipase C, hepatic type gene DOID:9002427 Fetal Macrosomia ISO RGD:3009 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat) PMID:10600655|REF_RGD_ID:2308786 12159133 LIPC lipase C, hepatic type gene DOID:9002513 Hypoproteinemia ISO RGD:3009 D RGD:9068941 20200609 RGD protein:reduced expression:plasma (rat) PMID:10844597|REF_RGD_ID:2308785 12159133 LIPC lipase C, hepatic type gene DOID:9003370 Dyslipidemias ISO RGD:736877 D RGD:7240710 20181003 OMIM 12159133 LIPC lipase C, hepatic type gene DOID:9003370 Dyslipidemias ISO RGD:736877 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dyslipidemia | ClinVar Annotator: match by term: High density lipoprotein cholesterol level quantitative trait locus 12 | ClinVar Annotator: match by term: High density lipoprotein cholesterol level quantitative trait locus 6 PMID:15292318|PMID:18364377|PMID:25741868|PMID:28492532 12159133 LIPC lipase C, hepatic type gene DOID:9004484 Sepsis ISO RGD:3009 D RGD:9068941 20200609 RGD protein:decreased expression:diaphragm, heart, adipose tissue (rat) PMID:2113037|REF_RGD_ID:2308797 12159133 LIPC lipase C, hepatic type gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:736877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 12159133 LIPC lipase C, hepatic type gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3009 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:1868959|PMID:18758746|REF_RGD_ID:2307432|REF_RGD_ID:2308849 12159133 LIPC lipase C, hepatic type gene DOID:9006599 Hypertriglyceridemia ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human) PMID:187516|REF_RGD_ID:2308846 12159133 LIPC lipase C, hepatic type gene DOID:9007137 Hepatic Lipase Deficiency ISO RGD:736877 D RGD:7240710 20180130 OMIM 12159133 LIPC lipase C, hepatic type gene DOID:9007137 Hepatic Lipase Deficiency ISO RGD:736877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatic lipase deficiency | ClinVar Annotator: match by term: LIPC DEFICIENCY PMID:10729390|PMID:12777476|PMID:1671786|PMID:17576681|PMID:1883393|PMID:19088157|PMID:21130455|PMID:21986251|PMID:23685560|PMID:24033266|PMID:24497850|PMID:24633158|PMID:25361584|PMID:25741868|PMID:25995285|PMID:28492532|PMID:28870971|PMID:28951076|PMID:30333156|PMID:8123642|PMID:8732782|PMID:9536098 12159133 LIPC lipase C, hepatic type gene DOID:9007571 Hyperlipoproteinemias ISO RGD:3009 D RGD:9068941 20200609 RGD associated with Nephrosis; protein:decreased expression:plasma (rat) PMID:6480830|REF_RGD_ID:2308798 12159133 LIPC lipase C, hepatic type gene DOID:9007571 Hyperlipoproteinemias ISO RGD:736877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18160998 12159133 LIPC lipase C, hepatic type gene DOID:9007571 Hyperlipoproteinemias ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human) PMID:11427226|REF_RGD_ID:2308834 12159133 LIPC lipase C, hepatic type gene DOID:9007571 Hyperlipoproteinemias ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Obesity and Diabetes; DNA:transition:promoter:-514C>T (human) PMID:15941898|REF_RGD_ID:2308829 12159133 LIPC lipase C, hepatic type gene DOID:9007692 Insulin Resistance ISO RGD:736877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15504970 12159133 LIPC lipase C, hepatic type gene DOID:9009039 Hyperemia ISO RGD:736877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16330034 12159133 LIPC lipase C, hepatic type gene DOID:9256 colorectal cancer ISO RGD:736877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12159133 LIPC lipase C, hepatic type gene DOID:9352 type 2 diabetes mellitus ISO RGD:736877 D RGD:7240710 20180130 OMIM 12159133 LIPC lipase C, hepatic type gene DOID:9352 type 2 diabetes mellitus ISO RGD:736877 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:12777476|PMID:1671786|PMID:18364377|PMID:1883393|PMID:21986251|PMID:23685560|PMID:24033266|PMID:24497850|PMID:24633158|PMID:25741868|PMID:25995285|PMID:28492532|PMID:28870971|PMID:30333156|PMID:8123642|PMID:8732782 12159133 LIPC lipase C, hepatic type gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:736877 D RGD:9068941 20200609 RGD DNA:transition:promoter:-250G>A (human) PMID:15656877|REF_RGD_ID:2308830 12159133 LIPC lipase C, hepatic type gene DOID:9744 type 1 diabetes mellitus ISO RGD:736877 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:9580247|REF_RGD_ID:2308845 12159133 LIPC lipase C, hepatic type gene DOID:9970 obesity ISO RGD:3009 D RGD:9068941 20200609 RGD protein:altered expression:liver, plasma (rat) PMID:11544558|REF_RGD_ID:2308784 12159133 LIPC lipase C, hepatic type gene DOID:9970 obesity ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma (human) PMID:12843191|REF_RGD_ID:2308835 12159147 SPEG striated muscle enriched protein kinase gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:734132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12159147 SPEG striated muscle enriched protein kinase gene DOID:0111216 autosomal recessive centronuclear myopathy ISO RGD:734132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12159147 SPEG striated muscle enriched protein kinase gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:734132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:25741868|PMID:28492532 12159147 SPEG striated muscle enriched protein kinase gene DOID:0111222 centronuclear myopathy 5 ISO RGD:734132 D RGD:7240710 20180130 OMIM 12159147 SPEG striated muscle enriched protein kinase gene DOID:0111222 centronuclear myopathy 5 ISO RGD:734132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 5 PMID:25087613|PMID:25741868|PMID:28492532 12159147 SPEG striated muscle enriched protein kinase gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:734132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12159147 SPEG striated muscle enriched protein kinase gene DOID:1148 polydactyly ISO RGD:734132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 12159147 SPEG striated muscle enriched protein kinase gene DOID:422 congenital structural myopathy ISO RGD:734132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:25741868|PMID:28492532 12159147 SPEG striated muscle enriched protein kinase gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:734132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12159147 SPEG striated muscle enriched protein kinase gene DOID:630 genetic disease ISO RGD:734132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12159147 SPEG striated muscle enriched protein kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12159222 RBBP6 RB binding protein 6, ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1323690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12159260 RBM15 RNA binding motif protein 15 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1343999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 12159260 RBM15 RNA binding motif protein 15 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1343999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12159260 RBM15 RNA binding motif protein 15 gene DOID:12849 autistic disorder ISO RGD:1343999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12159260 RBM15 RNA binding motif protein 15 gene DOID:630 genetic disease ISO RGD:1343999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12159260 RBM15 RNA binding motif protein 15 gene DOID:769 neuroblastoma ISO RGD:1343999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 12159266 SSX2IP SSX family member 2 interacting protein gene DOID:630 genetic disease ISO RGD:736522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12159296 ELP2 elongator acetyltransferase complex subunit 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1315023 D RGD:9068941 20220825 MouseDO 12159296 ELP2 elongator acetyltransferase complex subunit 2 gene DOID:0081212 autosomal recessive intellectual developmental disorder 48 ISO RGD:1315022 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome PMID:25741868 12159296 ELP2 elongator acetyltransferase complex subunit 2 gene DOID:0081220 autosomal recessive intellectual developmental disorder 58 ISO RGD:1315022 D RGD:7240710 20190315 OMIM 12159296 ELP2 elongator acetyltransferase complex subunit 2 gene DOID:0081220 autosomal recessive intellectual developmental disorder 58 ISO RGD:1315022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ELP2-Related Disorders | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 58 PMID:21937992|PMID:25356970|PMID:25741868|PMID:25847581|PMID:28492532|PMID:28726809|PMID:32573669|PMID:33393008|PMID:33510603|PMID:33976153|PMID:34653680 12159296 ELP2 elongator acetyltransferase complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:1315022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound PMID:25741868 12159296 ELP2 elongator acetyltransferase complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:1315022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound PMID:21937992|PMID:25356970|PMID:25741868|PMID:25847581|PMID:28492532|PMID:28726809|PMID:32573669|PMID:33393008|PMID:33510603|PMID:33976153|PMID:34653680 12159296 ELP2 elongator acetyltransferase complex subunit 2 gene DOID:630 genetic disease ISO RGD:1315022 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21937992|PMID:25741868|PMID:25847581|PMID:33976153 12159322 JUP junction plakoglobin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:732396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:24033266|PMID:24884844|PMID:25741868|PMID:28098346|PMID:28492532|PMID:33673806 12159322 JUP junction plakoglobin gene DOID:0050700 cardiomyopathy ISO RGD:732396 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:16467215|PMID:19863551|PMID:20525856|PMID:20864495|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25363768|PMID:25445213|PMID:25741868|PMID:25765472|PMID:26073755|PMID:27005929|PMID:27532257|PMID:28492532|PMID:29802319|PMID:29892012|PMID:30847666|PMID:31983221|PMID:32268277|PMID:34011629 12159322 JUP junction plakoglobin gene DOID:0060480 left ventricular noncompaction ISO RGD:732396 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12159322 JUP junction plakoglobin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:732396 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:21859740|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27662471|PMID:27930701|PMID:28492532|PMID:28831623 12159322 JUP junction plakoglobin gene DOID:0080365 endometrial hyperplasia ISO RGD:732396 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium PMID:12635138|REF_RGD_ID:2301747 12159322 JUP junction plakoglobin gene DOID:0080551 Naxos disease ISO RGD:732396 D RGD:7240710 20180130 OMIM 12159322 JUP junction plakoglobin gene DOID:0080551 Naxos disease ISO RGD:732396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES | ClinVar Annotator: match by term: Naxos disease | ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR PMID:10902626|PMID:16199547|PMID:16467215|PMID:17576681|PMID:18672408|PMID:18937352|PMID:19067702|PMID:19863551|PMID:20031617|PMID:20130592|PMID:20152563|PMID:20525856|PMID:20857253|PMID:20864495|PMID:21320868|PMID:21606396|PMID:21668431|PMID:21859740|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24238504|PMID:24503780|PMID:24704780|PMID:24884844|PMID:25351510|PMID:25363760|PMID:25363768|PMID:25445213|PMID:25616645|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26220970|PMID:26230511|PMID:26272908|PMID:27005929|PMID:27037756|PMID:27532257|PMID:27662471|PMID:27930701|PMID:28098346|PMID:28166811|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28798025|PMID:28831623|PMID:28855170|PMID:29247119|PMID:29334134|PMID:29517769|PMID:29606362|PMID:29619247|PMID:29892012|PMID:30206291|PMID:30453078|PMID:30775854|PMID:30847666|PMID:31275992|PMID:31402444|PMID:31737537|PMID:31983221|PMID:32212272|PMID:32233023|PMID:32268277|PMID:32746448|PMID:32880476|PMID:33500567|PMID:33673806|PMID:34011629|PMID:34026867|PMID:35581137|PMID:9536098 12159322 JUP junction plakoglobin gene DOID:0080551 Naxos disease ISO RGD:732396 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES | ClinVar Annotator: match by term: Naxos disease PMID:10902626|PMID:16199547|PMID:16467215|PMID:17576681|PMID:18672408|PMID:18937352|PMID:19067702|PMID:19863551|PMID:20031617|PMID:20130592|PMID:20152563|PMID:20525856|PMID:20857253|PMID:20864495|PMID:21320868|PMID:21606396|PMID:21668431|PMID:21859740|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24238504|PMID:24503780|PMID:24704780|PMID:24884844|PMID:25351510|PMID:25363760|PMID:25363768|PMID:25445213|PMID:25616645|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26220970|PMID:26230511|PMID:26272908|PMID:27005929|PMID:27037756|PMID:27532257|PMID:27662471|PMID:27930701|PMID:28098346|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28798025|PMID:28831623|PMID:28855170|PMID:29247119|PMID:29334134|PMID:29517769|PMID:29606362|PMID:29619247|PMID:29892012|PMID:30206291|PMID:30453078|PMID:30775854|PMID:30847666|PMID:31275992|PMID:31402444|PMID:31737537|PMID:31983221|PMID:32212272|PMID:32233023|PMID:32268277|PMID:32746448|PMID:32880476|PMID:33500567|PMID:33673806|PMID:33919104|PMID:34011629|PMID:34026867|PMID:35581137|PMID:9536098 12159322 JUP junction plakoglobin gene DOID:0110083 arrhythmogenic right ventricular dysplasia 12 ISO RGD:732396 D RGD:7240710 20180130 OMIM 12159322 JUP junction plakoglobin gene DOID:0110083 arrhythmogenic right ventricular dysplasia 12 ISO RGD:732396 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 PMID:10902626|PMID:16199547|PMID:16467215|PMID:17576681|PMID:18672408|PMID:19863551|PMID:20031617|PMID:20130592|PMID:20152563|PMID:20525856|PMID:20857253|PMID:20864495|PMID:21606396|PMID:21668431|PMID:21859740|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24238504|PMID:24503780|PMID:25351510|PMID:25363760|PMID:25363768|PMID:25445213|PMID:25616645|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26220970|PMID:26230511|PMID:26272908|PMID:27005929|PMID:27037756|PMID:27532257|PMID:27662471|PMID:27930701|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28831623|PMID:28855170|PMID:29247119|PMID:29334134|PMID:29517769|PMID:29606362|PMID:29892012|PMID:30775854|PMID:30847666|PMID:31275992|PMID:31402444|PMID:31983221|PMID:32212272|PMID:32233023|PMID:32268277|PMID:32746448|PMID:32880476|PMID:33500567|PMID:33919104|PMID:34011629|PMID:34026867|PMID:35581137|PMID:9536098 12159322 JUP junction plakoglobin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:21859740|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27662471|PMID:28166811|PMID:28492532|PMID:28831623 12159322 JUP junction plakoglobin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732396 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:21859740|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27662471|PMID:27930701|PMID:28492532|PMID:28831623 12159322 JUP junction plakoglobin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:732396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:28492532 12159322 JUP junction plakoglobin gene DOID:10283 prostate cancer ISO RGD:732396 D RGD:9068941 20200609 RGD DNA,mRNA,protein:loss of heterozygosity, decreased expression:tumor:relative to either BPH or normal prostate PMID:15781623|REF_RGD_ID:2291864 12159322 JUP junction plakoglobin gene DOID:10283 prostate cancer severity ISO RGD:732396 D RGD:9068941 20200609 RGD protein:increased expression:tumor:significantly associated with capsular invasion (p=0.007 for all cases, p=0.015 for cases with Gleason score 5-7) PMID:10206308|REF_RGD_ID:2291876 12159322 JUP junction plakoglobin gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732396 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:significant association with tumor grade and stage (p < 0.001) PMID:17363521|REF_RGD_ID:2289818 12159322 JUP junction plakoglobin gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732397 D RGD:9068941 20200609 RGD DNA, protein:mutations, increased expression:urinary bladder PMID:11585741|REF_RGD_ID:2301748 12159322 JUP junction plakoglobin gene DOID:11054 urinary bladder cancer severity ISO RGD:732396 D RGD:9068941 20200609 RGD protein:altered localization:tumor:loss of membrane expression associated with higher grade (p<0.05), higher stage (p<0.05), and poor survival (p<0.05) PMID:9783980|REF_RGD_ID:2291880 12159322 JUP junction plakoglobin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12159322 JUP junction plakoglobin gene DOID:12930 dilated cardiomyopathy ISO RGD:732396 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:20031617|PMID:20857253|PMID:21859740|PMID:23861362|PMID:24033266|PMID:25616645|PMID:25741868|PMID:25820315|PMID:27532257|PMID:27662471|PMID:27930701|PMID:28471438|PMID:28492532|PMID:28831623|PMID:31402444|PMID:31983221|PMID:32233023|PMID:34026867|PMID:35581137 12159322 JUP junction plakoglobin gene DOID:1380 endometrial cancer ISO RGD:732396 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium PMID:12635138|REF_RGD_ID:2301747 12159322 JUP junction plakoglobin gene DOID:2154 nephroblastoma disease_progression ISO RGD:732396 D RGD:9068941 20200609 RGD PMID:17633921|REF_RGD_ID:2301745 12159322 JUP junction plakoglobin gene DOID:2394 ovarian cancer ISO RGD:732396 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:tumor:in individuals carrying the BRCA1 predisposition PMID:7604000|REF_RGD_ID:2291881 12159322 JUP junction plakoglobin gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:732396 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:associated with higher Robinson grade (p=0.016) and lymph node metastases (p=0.012) PMID:16610682|REF_RGD_ID:2291882 12159322 JUP junction plakoglobin gene DOID:3390 palmoplantar keratosis ISO RGD:732396 D RGD:9068941 20200609 RGD Naxos disease, OMIM:601214 DNA:deletion:CDS:2157delTG PMID:10902626|REF_RGD_ID:1600286 12159322 JUP junction plakoglobin gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:732396 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:27532257|PMID:28492532|PMID:31983221|PMID:32233023 12159322 JUP junction plakoglobin gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:732396 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:27532257|PMID:28492532|PMID:31983221|PMID:32233023 12159322 JUP junction plakoglobin gene DOID:409 liver disease ISO RGD:732396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12159322 JUP junction plakoglobin gene DOID:4440 seminoma ISO RGD:732396 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:relative to normal tissue (p<0.01) PMID:11956097|REF_RGD_ID:2291872 12159322 JUP junction plakoglobin gene DOID:4450 renal cell carcinoma ISO RGD:732396 D RGD:9068941 20200609 RGD DNA:increased methylation:promoter:significantly increased methylation vs normal kidney (p < 0.01) PMID:15701841|REF_RGD_ID:2291866 12159322 JUP junction plakoglobin gene DOID:4450 renal cell carcinoma ISO RGD:732396 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:relative to normal kidney (p<0.001), higher expression associated with better survival rate (p<0.05) PMID:9891472|REF_RGD_ID:2291890 12159322 JUP junction plakoglobin gene DOID:4603 epidermolytic hyperkeratosis ISO RGD:732397 D RGD:9068941 20220825 MouseDO OMIM:113800 12159322 JUP junction plakoglobin gene DOID:630 genetic disease ISO RGD:732396 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12159322 JUP junction plakoglobin gene DOID:9000064 Cardiac Arrhythmias ISO RGD:732396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:24033266|PMID:25741868|PMID:28492532 12159322 JUP junction plakoglobin gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:732396 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:14670177|REF_RGD_ID:2301235 12159322 JUP junction plakoglobin gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:732396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:24033266|PMID:25741868|PMID:26220970|PMID:28492532|PMID:29334134 12159322 JUP junction plakoglobin gene DOID:9000965 Neoplasm Metastasis ISO RGD:732396 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms PMID:15619205|REF_RGD_ID:2301746 12159322 JUP junction plakoglobin gene DOID:9001836 Cardiac Conduction Defect ISO RGD:732396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666 12159322 JUP junction plakoglobin gene DOID:9002304 Prostatic Neoplasms ISO RGD:732396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12159322 JUP junction plakoglobin gene DOID:9003163 Heart Block ISO RGD:732396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666 12159322 JUP junction plakoglobin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:732396 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:23861362|PMID:25741868|PMID:28492532 12159322 JUP junction plakoglobin gene DOID:9005527 No-Reflow Phenomenon ISO RGD:732396 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16824628 12159322 JUP junction plakoglobin gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:732396 D RGD:9068941 20200609 RGD Naxos disease, OMIM:601214 DNA:deletion:CDS:2157delTG PMID:10902626|REF_RGD_ID:1600286 12159322 JUP junction plakoglobin gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:732396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:25741868|PMID:28492532 12159322 JUP junction plakoglobin gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:732396 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:20864495|PMID:24033266|PMID:25351510|PMID:25363768|PMID:25741868|PMID:28492532|PMID:29892012|PMID:32268277|PMID:34011629 12159322 JUP junction plakoglobin gene DOID:9008939 Breast Neoplasms ISO RGD:732396 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:tumor:in individuals carrying the BRCA1 predisposition PMID:7604000|REF_RGD_ID:2291881 12159322 JUP junction plakoglobin gene DOID:9008939 Breast Neoplasms no_association ISO RGD:732396 D RGD:9068941 20200609 RGD Protein::tumor:normal expression in both T1 and T2 tumors PMID:17008277|REF_RGD_ID:2291883 12159322 JUP junction plakoglobin gene DOID:9008939 Breast Neoplasms severity ISO RGD:732396 D RGD:9068941 20200609 RGD protein:increased expression:tumor, cell membrane:significantly associated with relapse-free and overall survival (p=0.029 and 0.020, respectively) PMID:11276001|REF_RGD_ID:2291873 12159348 APLF aprataxin and PNKP like factor gene DOID:630 genetic disease ISO RGD:1344091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12159365 BRPF3 bromodomain and PHD finger containing 3 gene DOID:0050553 JMP syndrome ISO RGD:1315730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12159365 BRPF3 bromodomain and PHD finger containing 3 gene DOID:630 genetic disease ISO RGD:1315730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12159384 SARS2 seryl-tRNA synthetase 2, mitochondrial gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1319808 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12159384 SARS2 seryl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1319808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12159384 SARS2 seryl-tRNA synthetase 2, mitochondrial gene DOID:9005811 HUPRA Syndrome ISO RGD:1319808 D RGD:7240710 20180130 OMIM 12159384 SARS2 seryl-tRNA synthetase 2, mitochondrial gene DOID:9005811 HUPRA Syndrome ISO RGD:1319808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HUPRA SYNDROME | ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME PMID:17576681|PMID:21255763|PMID:24034276|PMID:25741868|PMID:27279129|PMID:28492532|PMID:31607746|PMID:33751860|PMID:9536098 12159384 SARS2 seryl-tRNA synthetase 2, mitochondrial gene DOID:9352 type 2 diabetes mellitus ISO RGD:1319808 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12159448 DDX4 DEAD-box helicase 4 gene DOID:630 genetic disease ISO RGD:1318770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12159448 DDX4 DEAD-box helicase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12159476 SETD6 SET domain containing 6, protein lysine methyltransferase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605343 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12159476 SETD6 SET domain containing 6, protein lysine methyltransferase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605343 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12159476 SETD6 SET domain containing 6, protein lysine methyltransferase gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12159476 SETD6 SET domain containing 6, protein lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1605343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12159491 BTG3 BTG anti-proliferation factor 3 gene DOID:10652 Alzheimer's disease ISO RGD:733952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 12159491 BTG3 BTG anti-proliferation factor 3 gene DOID:13580 cholestasis ISO RGD:733952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12159491 BTG3 BTG anti-proliferation factor 3 gene DOID:4450 renal cell carcinoma ISO RGD:733952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19221000 12159491 BTG3 BTG anti-proliferation factor 3 gene DOID:630 genetic disease ISO RGD:733952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12159491 BTG3 BTG anti-proliferation factor 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12159491 BTG3 BTG anti-proliferation factor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12159505 SKP2 S-phase kinase associated protein 2 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1607086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18850583 12159505 SKP2 S-phase kinase associated protein 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1607086 D RGD:9068941 20220324 RGD protein:increased expression:mucosa of oral region (human) PMID:24743017|REF_RGD_ID:151665336 12159505 SKP2 S-phase kinase associated protein 2 gene DOID:0050902 medulloblastoma ISO RGD:1607086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 12159505 SKP2 S-phase kinase associated protein 2 gene DOID:0080365 endometrial hyperplasia ISO RGD:1607086 D RGD:9068941 20200609 RGD associated with Endometrial Neoplasms;protein:increased expression:endometrium PMID:16080017|REF_RGD_ID:2315043 12159505 SKP2 S-phase kinase associated protein 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:1607086 D RGD:9068941 20200609 RGD PMID:19450994|REF_RGD_ID:2315029 12159505 SKP2 S-phase kinase associated protein 2 gene DOID:10286 prostate carcinoma ISO RGD:1607086 D RGD:9068941 20200609 RGD PMID:12670908|REF_RGD_ID:2315046 12159505 SKP2 S-phase kinase associated protein 2 gene DOID:14566 disease of cellular proliferation ISO RGD:1607086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18451165 12159505 SKP2 S-phase kinase associated protein 2 gene DOID:1612 breast cancer ISO RGD:1607086 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:19350629|REF_RGD_ID:2315035 12159505 SKP2 S-phase kinase associated protein 2 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1607086 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:15351619|REF_RGD_ID:2315044 12159505 SKP2 S-phase kinase associated protein 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1607086 D RGD:9068941 20200609 RGD PMID:18922157|REF_RGD_ID:2315038 12159505 SKP2 S-phase kinase associated protein 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1607086 D RGD:9068941 20200609 RGD mRNA:increased expression:lung: PMID:12107105|REF_RGD_ID:13825152 12159505 SKP2 S-phase kinase associated protein 2 gene DOID:630 genetic disease ISO RGD:1607086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12159505 SKP2 S-phase kinase associated protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1562456 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19533683|REF_RGD_ID:2315050 12159505 SKP2 S-phase kinase associated protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1607086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12717389 12159505 SKP2 S-phase kinase associated protein 2 gene DOID:8991 cervix uteri carcinoma in situ severity ISO RGD:1607086 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections PMID:19094580|REF_RGD_ID:2315036 12159505 SKP2 S-phase kinase associated protein 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1607086 D RGD:9068941 20200609 RGD associated with Endometrial Neoplasms;protein:increased expression:endometrium PMID:16080017|REF_RGD_ID:2315043 12159505 SKP2 S-phase kinase associated protein 2 gene DOID:9000998 Brain Injuries ISO RGD:1562456 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19852587|REF_RGD_ID:2315049 12159505 SKP2 S-phase kinase associated protein 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1607086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19636294 12159505 SKP2 S-phase kinase associated protein 2 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1607086 D RGD:9068941 20200609 RGD PMID:16525656|REF_RGD_ID:2315042 12159505 SKP2 S-phase kinase associated protein 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1607086 D RGD:9068941 20200609 RGD DNA, mRNA:amplification, increased expression:uterine cervix PMID:18559093|REF_RGD_ID:2302384 12159505 SKP2 S-phase kinase associated protein 2 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:1607086 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections PMID:19094580|REF_RGD_ID:2315036 12159505 SKP2 S-phase kinase associated protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12159505 SKP2 S-phase kinase associated protein 2 gene DOID:9005882 Spine Osteoarthritis ISO RGD:1607086 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34697729 12159505 SKP2 S-phase kinase associated protein 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1607086 D RGD:9068941 20200609 RGD PMID:15220466|REF_RGD_ID:2315045 12159519 TRIM9 tripartite motif containing 9 gene DOID:630 genetic disease ISO RGD:736868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12159556 AXIN2 axin 2 gene DOID:0050424 familial adenomatous polyposis ISO RGD:1349667 D RGD:9068941 20220210 RGD protein:increased expression:mucosa: PMID:11809809|REF_RGD_ID:151356508 12159556 AXIN2 axin 2 gene DOID:0050567 orofacial cleft ISO RGD:1349667 D RGD:9068941 20220210 RGD DNA:SNP:cds:rs2240308(p.P50S)(human) PMID:19119171|REF_RGD_ID:151356509 12159556 AXIN2 axin 2 gene DOID:0050591 tooth agenesis ISO RGD:1349667 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Oligodontia PMID:15042511|PMID:21416598|PMID:21626677|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27300758|PMID:28492532|PMID:28944238|PMID:29371908|PMID:30374176 12159556 AXIN2 axin 2 gene DOID:0050866 oral squamous cell carcinoma ameliorates ISO RGD:1349667 D RGD:9068941 20220210 RGD PMID:33046030|REF_RGD_ID:151356656 12159556 AXIN2 axin 2 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1349667 D RGD:9068941 20220210 RGD PMID:33046030|REF_RGD_ID:151356656 12159556 AXIN2 axin 2 gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1349667 D RGD:9068941 20211217 RGD DNA:SNP:intron: C>T (rs3923087)(human) PMID:21393552|REF_RGD_ID:150530486 12159556 AXIN2 axin 2 gene DOID:0050912 colon adenoma ISO RGD:1349667 D RGD:9068941 20220210 RGD protein:increased expression:: PMID:11809809|REF_RGD_ID:151356508 12159556 AXIN2 axin 2 gene DOID:0080199 colorectal carcinoma ISO RGD:1349667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal carcinoma PMID:15042511|PMID:16199547|PMID:21416598|PMID:25741868|PMID:28492532 12159556 AXIN2 axin 2 gene DOID:0111349 hereditary desmoid disease ISO RGD:1349667 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fibromatosis, familial infiltrative PMID:25741868|PMID:28492532 12159556 AXIN2 axin 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1349667 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hirschsprung disease PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:27696107|PMID:28492532|PMID:29641532 12159556 AXIN2 axin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1349667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12159556 AXIN2 axin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:69259 D RGD:9068941 20220217 RGD protein:decreased expression:lung PMID:33092439|REF_RGD_ID:151356921 12159556 AXIN2 axin 2 gene DOID:1324 lung cancer susceptibility ISO RGD:1349667 D RGD:9068941 20220210 RGD DNA:SNP:exon:148T>C(rs2240308)(human) PMID:25091576|REF_RGD_ID:151356659 12159556 AXIN2 axin 2 gene DOID:1324 lung cancer susceptibility ISO RGD:1349667 D RGD:9068941 20220210 RGD DNA:SNPs:exons,introns: PMID:28378643|REF_RGD_ID:151356504 12159556 AXIN2 axin 2 gene DOID:13714 anodontia ISO RGD:1349667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic oligodontia PMID:26406231 12159556 AXIN2 axin 2 gene DOID:14330 Parkinson's disease ameliorates ISO RGD:69259 D RGD:9068941 20220217 RGD PMID:31078578|REF_RGD_ID:151356747 12159556 AXIN2 axin 2 gene DOID:1520 colon carcinoma ISO RGD:1349667 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:11017067|PMID:15042511|PMID:21416598|PMID:21472303|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29641532 12159556 AXIN2 axin 2 gene DOID:1612 breast cancer ISO RGD:1349667 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm PMID:21541676|PMID:25236910|PMID:26467025|PMID:28492532|PMID:29114927|PMID:29641532|PMID:33558524 12159556 AXIN2 axin 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:69259 D RGD:9068941 20220217 RGD PMID:31650542|REF_RGD_ID:151356749 12159556 AXIN2 axin 2 gene DOID:2340 craniosynostosis ISO RGD:1349667 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Craniosynostosis PMID:25741868|PMID:28492532 12159556 AXIN2 axin 2 gene DOID:2394 ovarian cancer ISO RGD:1349667 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532|PMID:29641532|PMID:30262796 12159556 AXIN2 axin 2 gene DOID:2870 endometrial adenocarcinoma ISO RGD:733705 D RGD:9068941 20200609 RGD PMID:11940574|REF_RGD_ID:13432156 12159556 AXIN2 axin 2 gene DOID:3121 gallbladder cancer disease_progression ISO RGD:1349667 D RGD:9068941 20220210 RGD DNA:SNP::s4791171(human) PMID:26715268|REF_RGD_ID:151356500 12159556 AXIN2 axin 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1349667 D RGD:9068941 20220211 RGD DNA:SNPs::1712 +19 G>A,148 C>T(human) PMID:30346805|REF_RGD_ID:151356655 12159556 AXIN2 axin 2 gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1349667 D RGD:9068941 20220210 RGD DNA:SNP:cds:p.P50S(human) PMID:16820935|REF_RGD_ID:151356657 12159556 AXIN2 axin 2 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:1349667 D RGD:9068941 20220211 RGD DNA:SNP::1386 C>T(human) PMID:30346805|REF_RGD_ID:151356655 12159556 AXIN2 axin 2 gene DOID:630 genetic disease ISO RGD:1349667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12159556 AXIN2 axin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1349667 D RGD:9068941 20220210 RGD protein:increased expression:liver: PMID:11809809|REF_RGD_ID:151356508 12159556 AXIN2 axin 2 gene DOID:687 hepatoblastoma ISO RGD:1349667 D RGD:9068941 20220210 RGD protein:increased expression:liver: PMID:11809809|REF_RGD_ID:151356508 12159556 AXIN2 axin 2 gene DOID:9000156 Metaplasia ISO RGD:735540 D RGD:9068941 20200609 RGD associated with Granulosa Cell Tumor;mRNA:increased expression:ovary PMID:16488995|REF_RGD_ID:1643593 12159556 AXIN2 axin 2 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:69259 D RGD:9068941 20220217 RGD PMID:21935365|REF_RGD_ID:9685370 12159556 AXIN2 axin 2 gene DOID:9001642 Intestinal Polyps ISO RGD:735540 D RGD:9068941 20220210 RGD protein:increased expression:small intestinal polyps: PMID:11809809|REF_RGD_ID:151356508 12159556 AXIN2 axin 2 gene DOID:9001820 Pulmonary Arterial Hypertension exacerbates ISO RGD:69259 D RGD:9068941 20220217 RGD PMID:28694128|REF_RGD_ID:151356920 12159556 AXIN2 axin 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:1349667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21188121 12159556 AXIN2 axin 2 gene DOID:9006205 Animal Disease Models ISO RGD:1349667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12159556 AXIN2 axin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349667 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11017067|PMID:12101426|PMID:15042511|PMID:15841489|PMID:16199547|PMID:16820935|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21541676|PMID:21626677|PMID:23838596|PMID:24033266|PMID:24581859|PMID:25151137|PMID:25236910|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:27009842|PMID:27090353|PMID:27300758|PMID:27491081|PMID:27696107|PMID:28265457|PMID:28492532|PMID:28577310|PMID:28717660|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29341116|PMID:29371908|PMID:29446198|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30374176|PMID:30555066|PMID:30760879|PMID:30822429|PMID:31285513|PMID:31769227|PMID:32807118|PMID:32984025|PMID:33193653|PMID:33359728|PMID:33558524|PMID:33606809|PMID:33725141|PMID:34817745|PMID:9536098 12159556 AXIN2 axin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349667 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11017067|PMID:12101426|PMID:15042511|PMID:15735151|PMID:15841489|PMID:16199547|PMID:16820935|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21541676|PMID:21626677|PMID:22581971|PMID:23838596|PMID:24033266|PMID:24581859|PMID:25151137|PMID:25236910|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:27009842|PMID:27090353|PMID:27153395|PMID:27300758|PMID:27491081|PMID:27696107|PMID:28265457|PMID:28492532|PMID:28577310|PMID:28717660|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29341116|PMID:29371908|PMID:29446198|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30374176|PMID:30555066|PMID:30760879|PMID:30822429|PMID:31285513|PMID:31769227|PMID:32807118|PMID:32984025|PMID:33193653|PMID:33359728|PMID:33558524|PMID:33606809|PMID:33725141|PMID:34817745|PMID:35014770|PMID:9536098 12159556 AXIN2 axin 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1349667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12159556 AXIN2 axin 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:1349667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12159556 AXIN2 axin 2 gene DOID:9007387 Oligodontia-Colorectal Cancer Syndrome ISO RGD:1349667 D RGD:7240710 20180130 OMIM 12159556 AXIN2 axin 2 gene DOID:9007387 Oligodontia-Colorectal Cancer Syndrome ISO RGD:1349667 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: AXIN2-related attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome | ClinVar Annotator: match by term: TOOTH AGENESIS-COLORECTAL CANCER SYNDROME PMID:10330403|PMID:11017067|PMID:12101426|PMID:15042511|PMID:15735151|PMID:15841489|PMID:16199547|PMID:16820935|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21541676|PMID:21626677|PMID:22581971|PMID:23169527|PMID:23838596|PMID:24033266|PMID:24581859|PMID:25151137|PMID:25236910|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:27009842|PMID:27090353|PMID:27153395|PMID:27234654|PMID:27300758|PMID:27491081|PMID:27696107|PMID:28265457|PMID:28492532|PMID:28577310|PMID:28717660|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29341116|PMID:29371908|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30374176|PMID:30555066|PMID:30760879|PMID:30822429|PMID:31285513|PMID:31769227|PMID:32807118|PMID:32984025|PMID:33193653|PMID:33359728|PMID:33558524|PMID:33606809|PMID:33725141|PMID:34817745|PMID:35014770|PMID:9536098 12159556 AXIN2 axin 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1349667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:28492532 12159556 AXIN2 axin 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1349667 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 12159556 AXIN2 axin 2 gene DOID:9256 colorectal cancer ISO RGD:1349667 D RGD:7240710 20200226 OMIM 12159556 AXIN2 axin 2 gene DOID:9256 colorectal cancer ISO RGD:1349667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27696107|PMID:28492532|PMID:29371908|PMID:29641532 12159556 AXIN2 axin 2 gene DOID:9256 colorectal cancer ISO RGD:1349667 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:15042511|PMID:21416598|PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27300758|PMID:27696107|PMID:28492532|PMID:28944238|PMID:29371908|PMID:29641532|PMID:30374176|PMID:33558524|PMID:33725141|PMID:34817745 12159556 AXIN2 axin 2 gene DOID:9256 colorectal cancer ISO RGD:1349667 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12101426|PMID:15042511|PMID:16941501|PMID:17373666|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27300758|PMID:27696107|PMID:28492532|PMID:28717660|PMID:28944238|PMID:29371908|PMID:29641532|PMID:30374176|PMID:33193653|PMID:33558524|PMID:33725141|PMID:34817745 12159556 AXIN2 axin 2 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1349667 D RGD:9068941 20220210 RGD DNA:SNP::rs2240308, c.148G>A(human) PMID:31632692|REF_RGD_ID:151356510 12159556 AXIN2 axin 2 gene DOID:9256 colorectal cancer treatment ISO RGD:1349667 D RGD:9068941 20220210 RGD PMID:29534875|REF_RGD_ID:151356662 12159556 AXIN2 axin 2 gene DOID:9655 oral mucosa leukoplakia disease_progression ISO RGD:1349667 D RGD:9068941 20220210 RGD PMID:28939076|REF_RGD_ID:151356661 12159582 ABI3 ABI family member 3 gene DOID:10652 Alzheimer's disease ISO RGD:1323432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28714976 12159582 ABI3 ABI family member 3 gene DOID:630 genetic disease ISO RGD:1323432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12159594 RNASEK ribonuclease K gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1604138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12159594 RNASEK ribonuclease K gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1604138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 12159594 RNASEK ribonuclease K gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1604138 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12159594 RNASEK ribonuclease K gene DOID:12177 common variable immunodeficiency ISO RGD:1604138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12159594 RNASEK ribonuclease K gene DOID:2729 dyskeratosis congenita ISO RGD:1604138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12159594 RNASEK ribonuclease K gene DOID:630 genetic disease ISO RGD:1604138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12159601 GPSM3 G protein signaling modulator 3 gene DOID:0050553 JMP syndrome ISO RGD:1343729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12159601 GPSM3 G protein signaling modulator 3 gene DOID:630 genetic disease ISO RGD:1343729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12159612 B4GALT4 beta-1,4-galactosyltransferase 4 gene DOID:630 genetic disease ISO RGD:1317330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12159612 B4GALT4 beta-1,4-galactosyltransferase 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1317330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12159622 NOL12 nucleolar protein 12 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1601850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12159622 NOL12 nucleolar protein 12 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1601850 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12159622 NOL12 nucleolar protein 12 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1601850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12159622 NOL12 nucleolar protein 12 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1601850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12159622 NOL12 nucleolar protein 12 gene DOID:630 genetic disease ISO RGD:1601850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12159633 IL23R interleukin 23 receptor gene DOID:0050589 inflammatory bowel disease ISO RGD:1351657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983784|PMID:23291587|PMID:26192919 12159633 IL23R interleukin 23 receptor gene DOID:0081120 Graves ophthalmopathy no_association ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs: :rs10889677,rs2201841(human) PMID:22663548|REF_RGD_ID:7421521 12159633 IL23R interleukin 23 receptor gene DOID:0081120 Graves ophthalmopathy susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2201841,rs10889677(human) PMID:18073300|REF_RGD_ID:8549554 12159633 IL23R interleukin 23 receptor gene DOID:0110883 inflammatory bowel disease 17 ISO RGD:1351657 D RGD:7240710 20180130 OMIM 12159633 IL23R interleukin 23 receptor gene DOID:0110883 inflammatory bowel disease 17 ISO RGD:1351657 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 17 | ClinVar Annotator: match by term: Inflammatory bowel disease 17, protection against PMID:12023369|PMID:17068223|PMID:17447842|PMID:17587057|PMID:17786191|PMID:17804789|PMID:18438406|PMID:19122664|PMID:20228799|PMID:25741868|PMID:28492532 12159633 IL23R interleukin 23 receptor gene DOID:0111279 psoriasis 7 ISO RGD:1351657 D RGD:7240710 20230505 OMIM 12159633 IL23R interleukin 23 receptor gene DOID:1024 leprosy ISO RGD:1351657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22019778 12159633 IL23R interleukin 23 receptor gene DOID:1059 intellectual disability ISO RGD:1351657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12159633 IL23R interleukin 23 receptor gene DOID:10608 celiac disease ISO RGD:1351657 D RGD:9068941 20200609 RGD PMID:19175939|REF_RGD_ID:8549604 12159633 IL23R interleukin 23 receptor gene DOID:10608 celiac disease susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.R381Q(rs11209026)(human) PMID:18368064|REF_RGD_ID:8549631 12159633 IL23R interleukin 23 receptor gene DOID:11335 sarcoidosis susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs:introns,exon:rs7517847,rs11465804,rs11209026(human) PMID:21846945|REF_RGD_ID:8549545 12159633 IL23R interleukin 23 receptor gene DOID:12361 Graves' disease no_association ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2201841,rs10889677,rs7530511(human) PMID:19021011|REF_RGD_ID:8549564 12159633 IL23R interleukin 23 receptor gene DOID:12361 Graves' disease susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNP: :rs7530511(human) PMID:18073300|REF_RGD_ID:8549554 12159633 IL23R interleukin 23 receptor gene DOID:12894 Sjogren's syndrome ISO RGD:1351657 D RGD:9068941 20200609 RGD protein:increased expression:minor salivary gland: PMID:22262980|REF_RGD_ID:8549566 12159633 IL23R interleukin 23 receptor gene DOID:13141 uveitis susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD associated with Sarcoidosis;DNA:SNPs:intron,exon:rs11465804,rs11209026(human) PMID:21846945|REF_RGD_ID:8549545 12159633 IL23R interleukin 23 receptor gene DOID:13241 Behcet's disease susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNP: :rs1884444(human) PMID:22483685|REF_RGD_ID:8549550 12159633 IL23R interleukin 23 receptor gene DOID:13241 Behcet's disease susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype::rs17375018, rs11209032(human); PMID:20375120|REF_RGD_ID:8549565 12159633 IL23R interleukin 23 receptor gene DOID:2377 multiple sclerosis ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs:cds:p.R381Q(rs11209026),(rs7517847)(human) PMID:18368064|REF_RGD_ID:8549631 12159633 IL23R interleukin 23 receptor gene DOID:2377 multiple sclerosis no_association ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2201841,rs10889677,s7517847(human) PMID:24547735|REF_RGD_ID:8549632 12159633 IL23R interleukin 23 receptor gene DOID:2841 asthma ISO RGD:1622129 D RGD:9068941 20200609 RGD PMID:19935773|REF_RGD_ID:5037240 12159633 IL23R interleukin 23 receptor gene DOID:418 systemic scleroderma ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs: :rs11209026, rs11465804 (human) PMID:19918037|REF_RGD_ID:5096624 12159633 IL23R interleukin 23 receptor gene DOID:418 systemic scleroderma no_association ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs: :rs11209032,rs1495965(human) PMID:18713787|REF_RGD_ID:8549603 12159633 IL23R interleukin 23 receptor gene DOID:4483 rhinitis susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :rs7517847(human) PMID:23696856|REF_RGD_ID:8549605 12159633 IL23R interleukin 23 receptor gene DOID:630 genetic disease ISO RGD:1351657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12159633 IL23R interleukin 23 receptor gene DOID:6432 pulmonary hypertension ISO RGD:1351657 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;DNA:SNPs: :rs11209026, rs11465804 (human) PMID:19918037|REF_RGD_ID:5096624 12159633 IL23R interleukin 23 receptor gene DOID:7147 ankylosing spondylitis ISO RGD:1351657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17952073|PMID:20062062 12159633 IL23R interleukin 23 receptor gene DOID:7147 ankylosing spondylitis ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:multiple: PMID:19522770|REF_RGD_ID:8549549 12159633 IL23R interleukin 23 receptor gene DOID:7147 ankylosing spondylitis no_association ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNP: :rs11209026(human) PMID:19877036|REF_RGD_ID:8549630 12159633 IL23R interleukin 23 receptor gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNP::rs1343151(human) PMID:18647855|REF_RGD_ID:8549596 12159633 IL23R interleukin 23 receptor gene DOID:848 arthritis susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD associated with Psoriasis;DNA:haplotype::rs7530511, rs11209026(human) PMID:19035472|REF_RGD_ID:8549572 12159633 IL23R interleukin 23 receptor gene DOID:8577 ulcerative colitis ISO RGD:1351657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438406|PMID:19122664|PMID:20228799 12159633 IL23R interleukin 23 receptor gene DOID:8577 ulcerative colitis ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNP,Haplotype: :rs1884444(human) PMID:23093364|REF_RGD_ID:8549574 12159633 IL23R interleukin 23 receptor gene DOID:8778 Crohn's disease ISO RGD:1351657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17435756|PMID:18438406 12159633 IL23R interleukin 23 receptor gene DOID:8778 Crohn's disease susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs:multiple: PMID:17068223|REF_RGD_ID:8549568 12159633 IL23R interleukin 23 receptor gene DOID:8893 psoriasis ISO RGD:1351657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Psoriasis, protection against PMID:12023369|PMID:17068223|PMID:17447842|PMID:17587057|PMID:17786191|PMID:17804789|PMID:18438406|PMID:19122664|PMID:20228799|PMID:28492532 12159633 IL23R interleukin 23 receptor gene DOID:8893 psoriasis susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNP: :rs11805303(human) PMID:20978829|REF_RGD_ID:8549602 12159633 IL23R interleukin 23 receptor gene DOID:8893 psoriasis susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.R381Q(human) PMID:17587057|REF_RGD_ID:8549569 12159633 IL23R interleukin 23 receptor gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:1586368 D RGD:9068941 20200609 RGD mRNA:increased expression:lymph node PMID:21193288|REF_RGD_ID:5108250 12159633 IL23R interleukin 23 receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:1351657 D RGD:9068941 20200609 RGD protein:increased expression:T cell: PMID:21110900|REF_RGD_ID:8549601 12159648 FGF23 fibroblast growth factor 23 gene DOID:0050336 hypophosphatemia ISO RGD:1351456 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypophosphatemia PMID:25741868 12159648 FGF23 fibroblast growth factor 23 gene DOID:0050459 hyperphosphatemia ISO RGD:1351456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17710231 12159648 FGF23 fibroblast growth factor 23 gene DOID:0050589 inflammatory bowel disease disease_progression ISO RGD:1351456 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22551310|REF_RGD_ID:10044237 12159648 FGF23 fibroblast growth factor 23 gene DOID:0050948 autosomal dominant hypophosphatemic rickets ISO RGD:1351456 D RGD:7240710 20180130 OMIM 12159648 FGF23 fibroblast growth factor 23 gene DOID:0050948 autosomal dominant hypophosphatemic rickets ISO RGD:1351456 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant PMID:11062477|PMID:11409890|PMID:11737582|PMID:11805436|PMID:12050201|PMID:12130585|PMID:12711740|PMID:12851820|PMID:12874285|PMID:1353055|PMID:15182416|PMID:15590700|PMID:15628294|PMID:15836777|PMID:15885032|PMID:16436388|PMID:17227222|PMID:17452648|PMID:17623664|PMID:17992255|PMID:18682534|PMID:18982401|PMID:21880793|PMID:22419710|PMID:24033266|PMID:25445451|PMID:25741868|PMID:26186302|PMID:26467025|PMID:28492532|PMID:31486862|PMID:32415663|PMID:35738466|PMID:5173181|PMID:9024275 12159648 FGF23 fibroblast growth factor 23 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1351456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 12159648 FGF23 fibroblast growth factor 23 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1351456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12159648 FGF23 fibroblast growth factor 23 gene DOID:0111063 hyperphosphatemic familial tumoral calcinosis ISO RGD:1351456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome PMID:15590700|PMID:15687325|PMID:18682534|PMID:19837926|PMID:24033266|PMID:25326637|PMID:29389098 12159648 FGF23 fibroblast growth factor 23 gene DOID:182 calcinosis ISO RGD:1351456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17710231 12159648 FGF23 fibroblast growth factor 23 gene DOID:4676 uremia ISO RGD:620178 D RGD:9068941 20200609 RGD PMID:19339809|REF_RGD_ID:10044236 12159648 FGF23 fibroblast growth factor 23 gene DOID:630 genetic disease ISO RGD:1351456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12159648 FGF23 fibroblast growth factor 23 gene DOID:784 chronic kidney disease ISO RGD:620178 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:20016468|REF_RGD_ID:10044210 12159648 FGF23 fibroblast growth factor 23 gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:1351456 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:11062477|PMID:11409890|PMID:11737582|PMID:11805436|PMID:12050201|PMID:12130585|PMID:12711740|PMID:12851820|PMID:12874285|PMID:15182416|PMID:15590700|PMID:15628294|PMID:15836777|PMID:15885032|PMID:16436388|PMID:17227222|PMID:17452648|PMID:17623664|PMID:17992255|PMID:18682534|PMID:21880793|PMID:25741868|PMID:26186302|PMID:28492532|PMID:35738466 12159648 FGF23 fibroblast growth factor 23 gene DOID:9002165 Diabetic Nephropathies severity ISO RGD:620178 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:23967103|REF_RGD_ID:10044235 12159648 FGF23 fibroblast growth factor 23 gene DOID:9002644 Premature Aging ISO RGD:734317 D RGD:9068941 20200609 RGD PMID:18729070|REF_RGD_ID:10044240 12159648 FGF23 fibroblast growth factor 23 gene DOID:9002644 Premature Aging ISO RGD:734317 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:19500727|REF_RGD_ID:10045876 12159648 FGF23 fibroblast growth factor 23 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:1351456 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:24101107|REF_RGD_ID:10044241 12159648 FGF23 fibroblast growth factor 23 gene DOID:9007069 Hyperphosphatemic Familial Tumoral Calcinosis 2 ISO RGD:1351456 D RGD:7240710 20190508 OMIM 12159648 FGF23 fibroblast growth factor 23 gene DOID:9007069 Hyperphosphatemic Familial Tumoral Calcinosis 2 ISO RGD:1351456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 2 PMID:11062477|PMID:15590700|PMID:15687325|PMID:16030159|PMID:16151858|PMID:18682534|PMID:18982401|PMID:19837926|PMID:22419710|PMID:24033266|PMID:25445451|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29389098 12159648 FGF23 fibroblast growth factor 23 gene DOID:9007181 Osteoporotic Fractures ISO RGD:1351456 D RGD:9068941 20200609 RGD PMID:20928885|REF_RGD_ID:10044238 12159648 FGF23 fibroblast growth factor 23 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1351456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:15590700|PMID:15687325|PMID:18682534|PMID:19837926|PMID:24033266|PMID:25378588|PMID:25741868|PMID:29389098 12159655 SCEL sciellin gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1312935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12159655 SCEL sciellin gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1312935 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10528251|PMID:20127975|PMID:20157158|PMID:22589734|PMID:28492532|PMID:30394532|PMID:31406620|PMID:32393339|PMID:8001159 12159655 SCEL sciellin gene DOID:630 genetic disease ISO RGD:1312935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12159711 MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein gene DOID:0111855 primary ciliary dyskinesia 42 ISO RGD:6771255 D RGD:7240710 20200101 OMIM 12159711 MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein gene DOID:0111855 primary ciliary dyskinesia 42 ISO RGD:6771255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 42 PMID:1523039|PMID:24033266|PMID:25048963|PMID:25741868|PMID:28492532|PMID:30237576|PMID:8813877 12159711 MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein gene DOID:630 genetic disease ISO RGD:6771255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12159711 MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:6771255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12159711 MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:6771255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:24033266|PMID:25048963|PMID:25741868|PMID:28492532|PMID:8813877 12159731 TAF5 TATA-box binding protein associated factor 5 gene DOID:630 genetic disease ISO RGD:1322729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12159752 MUC7 mucin 7, secreted gene DOID:2841 asthma ISO RGD:1344843 D RGD:7240710 20230505 OMIM 12159752 MUC7 mucin 7, secreted gene DOID:2841 asthma ISO RGD:1344843 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Asthma, protection against PMID:11378823|PMID:16759176|PMID:28492532 12159752 MUC7 mucin 7, secreted gene DOID:630 genetic disease ISO RGD:1344843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12159752 MUC7 mucin 7, secreted gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1344843 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12159823 ANP32A acidic nuclear phosphoprotein 32 family member A gene DOID:2717 Bloom syndrome ISO RGD:1606331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12159823 ANP32A acidic nuclear phosphoprotein 32 family member A gene DOID:3910 lung adenocarcinoma ISO RGD:1606331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12159823 ANP32A acidic nuclear phosphoprotein 32 family member A gene DOID:9000998 Brain Injuries ISO RGD:11508551 D RGD:9068941 20200609 RGD PMID:24385964|REF_RGD_ID:10401136 12159823 ANP32A acidic nuclear phosphoprotein 32 family member A gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1606331 D RGD:9068941 20200609 RGD PMID:19054144|REF_RGD_ID:10401133 12159823 ANP32A acidic nuclear phosphoprotein 32 family member A gene DOID:9004590 Acute Liver Failure ISO RGD:1606331 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 12159823 ANP32A acidic nuclear phosphoprotein 32 family member A gene DOID:9006205 Animal Disease Models ISO RGD:1606331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12159823 ANP32A acidic nuclear phosphoprotein 32 family member A gene DOID:9008443 Colorectal Neoplasms ISO RGD:1606331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 12159823 ANP32A acidic nuclear phosphoprotein 32 family member A gene DOID:9256 colorectal cancer ISO RGD:1606331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12159833 HPF1 histone PARylation factor 1 gene DOID:630 genetic disease ISO RGD:1606274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12159857 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:0050454 periventricular nodular heterotopia ISO RGD:731354 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12159857 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:0050476 Barth syndrome ISO RGD:731354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12159857 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:0050800 creatine transporter deficiency ISO RGD:731354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 12159857 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12159857 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:0080574 congenital disorder of glycosylation Iy ISO RGD:731354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y 12159857 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:731354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 12159857 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:0112003 immunodeficiency 33 ISO RGD:731354 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12159857 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:10588 adrenoleukodystrophy ISO RGD:731354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12159857 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:731354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12159857 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:12835 quadriplegia ISO RGD:731354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic tetraplegia PMID:25741868 12159857 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:12849 autistic disorder ISO RGD:731354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12159857 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:13628 favism ISO RGD:731354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12159857 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:2729 dyskeratosis congenita ISO RGD:731354 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12159857 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:607 paraplegia ISO RGD:731354 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12159857 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:630 genetic disease ISO RGD:731354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12159857 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:9002720 Splenomegaly ISO RGD:731354 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12159874 TENT5C terminal nucleotidyltransferase 5C gene DOID:630 genetic disease ISO RGD:1352086 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12159881 RASIP1 Ras interacting protein 1 gene DOID:630 genetic disease ISO RGD:1313233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12159897 CIDEC cell death inducing DFFA like effector c gene DOID:0050440 familial partial lipodystrophy ISO RGD:1354006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12159897 CIDEC cell death inducing DFFA like effector c gene DOID:0070203 familial partial lipodystrophy type 5 ISO RGD:1354006 D RGD:7240710 20180130 OMIM 12159897 CIDEC cell death inducing DFFA like effector c gene DOID:0070203 familial partial lipodystrophy type 5 ISO RGD:1354006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH CIDEC MUTATIONS PMID:18654663|PMID:20049731|PMID:25741868 12159897 CIDEC cell death inducing DFFA like effector c gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1354006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 12159897 CIDEC cell death inducing DFFA like effector c gene DOID:2843 long QT syndrome ISO RGD:1354006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12159897 CIDEC cell death inducing DFFA like effector c gene DOID:3042 allergic contact dermatitis ISO RGD:1354006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 12159897 CIDEC cell death inducing DFFA like effector c gene DOID:630 genetic disease ISO RGD:1354006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12159897 CIDEC cell death inducing DFFA like effector c gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12159897 CIDEC cell death inducing DFFA like effector c gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1354006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 12159897 CIDEC cell death inducing DFFA like effector c gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1354006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12159913 R3HDML R3H domain containing like gene DOID:2234 focal epilepsy ISO RGD:1313241 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12159913 R3HDML R3H domain containing like gene DOID:630 genetic disease ISO RGD:1313241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12159913 R3HDML R3H domain containing like gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12159922 SLC46A1 solute carrier family 46 member 1 gene DOID:0111678 hereditary folate malabsorption ISO RGD:1606750 D RGD:7240710 20180130 OMIM 12159922 SLC46A1 solute carrier family 46 member 1 gene DOID:0111678 hereditary folate malabsorption ISO RGD:1606750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital defect of folate absorption PMID:11804211|PMID:11807405|PMID:17129779|PMID:17446347|PMID:18559978|PMID:19176287|PMID:19740703|PMID:20301716|PMID:20686069|PMID:20795774|PMID:21333572|PMID:21489556|PMID:22345511|PMID:22843796|PMID:25741868|PMID:27664775|PMID:28492532|PMID:3987728 12159922 SLC46A1 solute carrier family 46 member 1 gene DOID:1059 intellectual disability ISO RGD:1606750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12159922 SLC46A1 solute carrier family 46 member 1 gene DOID:12450 pancytopenia ISO RGD:1606750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21346251 12159922 SLC46A1 solute carrier family 46 member 1 gene DOID:2355 anemia ISO RGD:1606750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21346251 12159922 SLC46A1 solute carrier family 46 member 1 gene DOID:630 genetic disease ISO RGD:1606750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11807405|PMID:17129779|PMID:19740703|PMID:20301716|PMID:21489556|PMID:25741868|PMID:27664775|PMID:28492532 12159922 SLC46A1 solute carrier family 46 member 1 gene DOID:784 chronic kidney disease ISO RGD:1309472 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver, heart, jejunum (rat) PMID:21149507|REF_RGD_ID:7327184 12159922 SLC46A1 solute carrier family 46 member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12159922 SLC46A1 solute carrier family 46 member 1 gene DOID:9002984 Malabsorption Syndromes ISO RGD:1606750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17129779|PMID:17446347 12159922 SLC46A1 solute carrier family 46 member 1 gene DOID:9279 hyperhomocysteinemia ISO RGD:1606750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19204075 12159931 CLEC5A C-type lectin domain containing 5A gene DOID:0080690 RASopathy ISO RGD:1343085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12159931 CLEC5A C-type lectin domain containing 5A gene DOID:12206 dengue hemorrhagic fever ISO RGD:1343085 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18496526 12159931 CLEC5A C-type lectin domain containing 5A gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1343085 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 12159931 CLEC5A C-type lectin domain containing 5A gene DOID:630 genetic disease ISO RGD:1343085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12159931 CLEC5A C-type lectin domain containing 5A gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1343085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 12159959 NRBP2 nuclear receptor binding protein 2 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1351329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12159959 NRBP2 nuclear receptor binding protein 2 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1351329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12159959 NRBP2 nuclear receptor binding protein 2 gene DOID:4621 holoprosencephaly ISO RGD:1351329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12159959 NRBP2 nuclear receptor binding protein 2 gene DOID:630 genetic disease ISO RGD:1351329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12159989 PRKCG protein kinase C gamma gene DOID:0050753 cerebellar ataxia ISO RGD:732858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 12159989 PRKCG protein kinase C gamma gene DOID:0050951 hereditary ataxia ISO RGD:732858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary ataxia PMID:25741868 12159989 PRKCG protein kinase C gamma gene DOID:0050964 spinocerebellar ataxia type 14 ISO RGD:732858 D RGD:7240710 20180130 OMIM 12159989 PRKCG protein kinase C gamma gene DOID:0050964 spinocerebellar ataxia type 14 ISO RGD:732858 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 14 PMID:12164726|PMID:12644968|PMID:14676051|PMID:14694043|PMID:15313841|PMID:15618281|PMID:15824357|PMID:15841389|PMID:15964845|PMID:16189624|PMID:16193476|PMID:16547918|PMID:16649092|PMID:16763984|PMID:17024314|PMID:17344846|PMID:17562946|PMID:17659643|PMID:18005063|PMID:18499672|PMID:18577575|PMID:19561170|PMID:20301573|PMID:21434874|PMID:21666345|PMID:21937992|PMID:24134140|PMID:24744737|PMID:24937631|PMID:25217572|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28738819|PMID:30093405|PMID:30363848|PMID:9545390 12159989 PRKCG protein kinase C gamma gene DOID:0090063 familial cold autoinflammatory syndrome 2 ISO RGD:732858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 PMID:28492532 12159989 PRKCG protein kinase C gamma gene DOID:10584 retinitis pigmentosa ISO RGD:11147 D RGD:9068941 20200609 RGD PMID:9545390|REF_RGD_ID:737791 12159989 PRKCG protein kinase C gamma gene DOID:1059 intellectual disability ISO RGD:732858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12159989 PRKCG protein kinase C gamma gene DOID:12098 trigeminal neuralgia ISO RGD:732858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12159989 PRKCG protein kinase C gamma gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:732858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia 12159989 PRKCG protein kinase C gamma gene DOID:3525 middle cerebral artery infarction ISO RGD:732858 D RGD:9068941 20200609 RGD PMID:14688616|REF_RGD_ID:1358416 12159989 PRKCG protein kinase C gamma gene DOID:630 genetic disease ISO RGD:732858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 12159989 PRKCG protein kinase C gamma gene DOID:9000039 Spinal Cord Injuries ISO RGD:11147 D RGD:9068941 20200813 RGD protein:decreased expression:spinal cord (mouse) PMID:10501452|REF_RGD_ID:28867228 12159989 PRKCG protein kinase C gamma gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:732858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20398063 12159989 PRKCG protein kinase C gamma gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:732858 D RGD:9068941 20200609 RGD DNA:missense mutations:cds: (human) PMID:12644968|REF_RGD_ID:737790 12159989 PRKCG protein kinase C gamma gene DOID:9002211 Hyperalgesia ISO RGD:732858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19955894|PMID:27093858 12159989 PRKCG protein kinase C gamma gene DOID:9002211 Hyperalgesia treatment ISO RGD:732858 D RGD:9068941 20200813 RGD PMID:12560106|REF_RGD_ID:28867224 12159989 PRKCG protein kinase C gamma gene DOID:9006205 Animal Disease Models ISO RGD:732858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12159989 PRKCG protein kinase C gamma gene DOID:9277 primary cerebellar degeneration ISO RGD:732858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary ataxia PMID:25741868 12160018 OR2A5 olfactory receptor family 2 subfamily A member 5 gene DOID:630 genetic disease ISO RGD:1343457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160021 IL12B interleukin 12B gene DOID:0060859 salmonellosis susceptibility ISO RGD:1353629 D RGD:9068941 20200609 RGD disseminated BCG and Salmonella enteritidis infection, OMIM:209950 DNA:deletion:intron,exon:homozygous 4.4kb deletion encompassing exons 4 and 5 and associated introns PMID:9854038|REF_RGD_ID:1600042 12160021 IL12B interleukin 12B gene DOID:0111950 immunodeficiency 29 ISO RGD:1353629 D RGD:7240710 20180130 OMIM 12160021 IL12B interleukin 12B gene DOID:0111950 immunodeficiency 29 ISO RGD:1353629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency PMID:11704807|PMID:11753820|PMID:17236132|PMID:17576681|PMID:18449199|PMID:22739501|PMID:23429356|PMID:23575353|PMID:24127073|PMID:25741868|PMID:28492532|PMID:9536098|PMID:9854038 12160021 IL12B interleukin 12B gene DOID:11168 anogenital venereal wart ISO RGD:1353629 D RGD:9068941 20201105 RGD protein:decreased expression:peripheral blood mononuclear cells (human) PMID:23754510|REF_RGD_ID:40400714 12160021 IL12B interleukin 12B gene DOID:11168 anogenital venereal wart treatment ISO RGD:1353629 D RGD:9068941 20200609 RGD PMID:16114559|REF_RGD_ID:7829774 12160021 IL12B interleukin 12B gene DOID:12236 primary biliary cholangitis ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20639880 12160021 IL12B interleukin 12B gene DOID:12385 shigellosis treatment ISO RGD:732857 D RGD:9068941 20201022 RGD PMID:30615126|REF_RGD_ID:39938959 12160021 IL12B interleukin 12B gene DOID:14453 farmer's lung ISO RGD:732857 D RGD:9068941 20200609 RGD PMID:12084045|REF_RGD_ID:4145430 12160021 IL12B interleukin 12B gene DOID:1790 malignant mesothelioma ISO RGD:1353629 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 12160021 IL12B interleukin 12B gene DOID:2841 asthma ISO RGD:1353629 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Asthma, susceptibility to PMID:15322986 12160021 IL12B interleukin 12B gene DOID:2841 asthma severity ISO RGD:1353629 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:12241719|REF_RGD_ID:4145428 12160021 IL12B interleukin 12B gene DOID:2841 asthma severity ISO RGD:1353629 D RGD:9068941 20200609 RGD DNA:polymorphisms:introns: PMID:15322986|REF_RGD_ID:1600043 12160021 IL12B interleukin 12B gene DOID:2841 asthma susceptibility ISO RGD:1353629 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, 3'utr: PMID:16210052|REF_RGD_ID:4145438 12160021 IL12B interleukin 12B gene DOID:3070 high grade glioma ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18176109 12160021 IL12B interleukin 12B gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1353629 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:19279357|REF_RGD_ID:4145423 12160021 IL12B interleukin 12B gene DOID:3770 pulmonary fibrosis ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12193738 12160021 IL12B interleukin 12B gene DOID:3770 pulmonary fibrosis ISO RGD:732857 D RGD:9068941 20200609 RGD PMID:20176803|REF_RGD_ID:4888529 12160021 IL12B interleukin 12B gene DOID:3770 pulmonary fibrosis ISO RGD:732857 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:18598692|REF_RGD_ID:4889581 12160021 IL12B interleukin 12B gene DOID:630 genetic disease ISO RGD:1353629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12160021 IL12B interleukin 12B gene DOID:7147 ankylosing spondylitis ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743469 12160021 IL12B interleukin 12B gene DOID:8577 ulcerative colitis ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438406|PMID:20228799|PMID:21297633 12160021 IL12B interleukin 12B gene DOID:8778 Crohn's disease ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438406 12160021 IL12B interleukin 12B gene DOID:8893 psoriasis ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19169254|PMID:19169255|PMID:20953190 12160021 IL12B interleukin 12B gene DOID:9001488 Human Influenza ISO RGD:732857 D RGD:9068941 20200609 RGD PMID:16389596|REF_RGD_ID:4145426 12160021 IL12B interleukin 12B gene DOID:9002170 Experimental Neoplasms ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17332360 12160021 IL12B interleukin 12B gene DOID:9002395 Hypothermia ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16369138 12160021 IL12B interleukin 12B gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:628704 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lymph node PMID:19233473|REF_RGD_ID:4831840 12160021 IL12B interleukin 12B gene DOID:9003281 Spontaneous Abortions ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12160021 IL12B interleukin 12B gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1353629 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:+1188A>C (human) PMID:15871664|REF_RGD_ID:14401721 12160021 IL12B interleukin 12B gene DOID:9004484 Sepsis ISO RGD:628704 D RGD:9068941 20200609 RGD protein:increased expression:peritoneal fluid, plasma PMID:15776385|REF_RGD_ID:4888507 12160021 IL12B interleukin 12B gene DOID:9004547 Thyroid Neoplasms ISO RGD:732857 D RGD:9068941 20200609 RGD PMID:10848872|REF_RGD_ID:4145421 12160021 IL12B interleukin 12B gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1353629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Recessive 12160021 IL12B interleukin 12B gene DOID:9004729 Nontuberculous Mycobacterium Infections susceptibility ISO RGD:1353629 D RGD:9068941 20200609 RGD disseminated BCG and Salmonella enteritidis infection, OMIM:209950 DNA:deletion:intron,exon:homozygous 4.4kb deletion encompassing exons 4 and 5 and associated introns PMID:9854038|REF_RGD_ID:1600042 12160021 IL12B interleukin 12B gene DOID:9005968 Neuralgia ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31432094 12160021 IL12B interleukin 12B gene DOID:9007188 Liver Neoplasms ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17326190 12160021 IL12B interleukin 12B gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353629 D RGD:9068941 20230518 CTD CTD Direct Evidence: therapeutic PMID:36520315 12160021 IL12B interleukin 12B gene DOID:9008 psoriatic arthritis ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953186 12160021 IL12B interleukin 12B gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1353629 D RGD:9068941 20200609 RGD DNA:SNP:3'utr: (rs3212227) PMID:25469587|REF_RGD_ID:11074616 12160021 IL12B interleukin 12B gene DOID:9074 systemic lupus erythematosus ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838195|PMID:26808113 12160036 SMIM8 small integral membrane protein 8 gene DOID:630 genetic disease ISO RGD:1313022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160053 DPP10 dipeptidyl peptidase like 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1315036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18252227 12160053 DPP10 dipeptidyl peptidase like 10 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1315036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12160053 DPP10 dipeptidyl peptidase like 10 gene DOID:2841 asthma ISO RGD:1306427 D RGD:9068941 20200609 RGD protein:increased expression:bronchus PMID:17967935|REF_RGD_ID:4892278 12160053 DPP10 dipeptidyl peptidase like 10 gene DOID:2841 asthma ISO RGD:1315036 D RGD:9068941 20200609 RGD DNA:SNP: :rs10208402 (human) PMID:19672052|REF_RGD_ID:4892275 12160053 DPP10 dipeptidyl peptidase like 10 gene DOID:2841 asthma ISO RGD:1315036 D RGD:9068941 20200609 RGD DNA:SNP:exon (human) PMID:14566338|REF_RGD_ID:4892276 12160053 DPP10 dipeptidyl peptidase like 10 gene DOID:2841 asthma ISO RGD:1315036 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:21103062|REF_RGD_ID:4889866 12160053 DPP10 dipeptidyl peptidase like 10 gene DOID:5419 schizophrenia ISO RGD:1315036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12160053 DPP10 dipeptidyl peptidase like 10 gene DOID:630 genetic disease ISO RGD:1315036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160053 DPP10 dipeptidyl peptidase like 10 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1315036 D RGD:9068941 20200609 RGD PMID:19951440|REF_RGD_ID:4892274 12160053 DPP10 dipeptidyl peptidase like 10 gene DOID:9007188 Liver Neoplasms ISO RGD:1315036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12160084 EIF3F eukaryotic translation initiation factor 3 subunit F gene DOID:0081228 autosomal recessive intellectual developmental disorder 67 ISO RGD:1314535 D RGD:7240710 20190315 OMIM 12160084 EIF3F eukaryotic translation initiation factor 3 subunit F gene DOID:0081228 autosomal recessive intellectual developmental disorder 67 ISO RGD:1314535 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 67 PMID:25741868|PMID:30409806|PMID:33736665 12160084 EIF3F eukaryotic translation initiation factor 3 subunit F gene DOID:1059 intellectual disability ISO RGD:1314535 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:30409806|PMID:33736665 12160084 EIF3F eukaryotic translation initiation factor 3 subunit F gene DOID:630 genetic disease ISO RGD:1314535 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30409806|PMID:33736665 12160084 EIF3F eukaryotic translation initiation factor 3 subunit F gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314535 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30409806|PMID:33736665 12160084 EIF3F eukaryotic translation initiation factor 3 subunit F gene DOID:9009097 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies ISO RGD:1314535 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PMID:25741868|PMID:30409806|PMID:33736665 12160084 EIF3F eukaryotic translation initiation factor 3 subunit F gene DOID:9352 type 2 diabetes mellitus ISO RGD:1306112 D RGD:9068941 20200609 RGD PMID:12875716|REF_RGD_ID:10755506 12160096 CKAP2 cytoskeleton associated protein 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1323189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12160096 CKAP2 cytoskeleton associated protein 2 gene DOID:1059 intellectual disability ISO RGD:1323189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12160096 CKAP2 cytoskeleton associated protein 2 gene DOID:630 genetic disease ISO RGD:1323189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160116 GIT2 GIT ArfGAP 2 gene DOID:630 genetic disease ISO RGD:1345420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160161 LIMA1 LIM domain and actin binding 1 gene DOID:630 genetic disease ISO RGD:1602328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160181 SINHCAF SIN3-HDAC complex associated factor gene DOID:4905 pancreatic carcinoma ISO RGD:1347576 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35213078 12160204 BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:0050677 Bjornstad syndrome ISO RGD:1347169 D RGD:7240710 20180130 OMIM 12160204 BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:0050677 Bjornstad syndrome ISO RGD:1347169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bjornstad syndrome with mild mitochondrial complex III deficiency | ClinVar Annotator: match by term: Pili torti-deafness syndrome PMID:11528392|PMID:12215968|PMID:12547234|PMID:12910490|PMID:16199547|PMID:17314340|PMID:17403714|PMID:18386115|PMID:18771761|PMID:19162478|PMID:19389488|PMID:19508421|PMID:20518024|PMID:20727375|PMID:21274865|PMID:22277166|PMID:24033266|PMID:24172246|PMID:24236502|PMID:24704045|PMID:25741868|PMID:25895478|PMID:25914718|PMID:26467025|PMID:27959697|PMID:28105683|PMID:28322498|PMID:28492532|PMID:30582773|PMID:30634555|PMID:31435670|PMID:9545407 12160204 BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1347169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12160204 BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1347169 D RGD:7240710 20180130 OMIM 12160204 BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1347169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Decreased activity of mitochondrial complex III | ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 PMID:11528392|PMID:12215968|PMID:12547234|PMID:12910490|PMID:17314340|PMID:17403714|PMID:18386115|PMID:18771761|PMID:19162478|PMID:19389488|PMID:19508421|PMID:20472482|PMID:20518024|PMID:21274865|PMID:22277166|PMID:22277967|PMID:22310368|PMID:22991165|PMID:23892085|PMID:24033266|PMID:24172246|PMID:24655110|PMID:24704045|PMID:25741868|PMID:25895478|PMID:25914718|PMID:26467025|PMID:27959697|PMID:28128857|PMID:28322498|PMID:28427446|PMID:28492532|PMID:28496993|PMID:29090881|PMID:30582773|PMID:30634555|PMID:31316545|PMID:31435670|PMID:32313153|PMID:32581362|PMID:9545407 12160204 BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1347169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12160204 BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:0111455 GRACILE syndrome ISO RGD:1347169 D RGD:7240710 20180130 OMIM 12160204 BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:0111455 GRACILE syndrome ISO RGD:1347169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GRACILE syndrome PMID:11528392|PMID:12215968|PMID:12547234|PMID:12910490|PMID:16199547|PMID:17314340|PMID:17403714|PMID:18386115|PMID:18771761|PMID:19162478|PMID:19285991|PMID:19389488|PMID:19508421|PMID:20518024|PMID:21274865|PMID:22277166|PMID:22310368|PMID:23892085|PMID:24033266|PMID:24172246|PMID:24236502|PMID:24655110|PMID:24704045|PMID:25741868|PMID:25895478|PMID:25914718|PMID:25954003|PMID:26467025|PMID:26489029|PMID:26563427|PMID:27618451|PMID:27959697|PMID:28105683|PMID:28128857|PMID:28322498|PMID:28427446|PMID:28490743|PMID:28492532|PMID:28496993|PMID:29090881|PMID:30582773|PMID:30634555|PMID:31435670|PMID:33511646|PMID:9545407 12160204 BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1347169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12160204 BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:1059 intellectual disability ISO RGD:1347169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:22277967|PMID:25741868|PMID:28492532|PMID:31316545|PMID:32581362 12160204 BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:10907 microcephaly ISO RGD:1347169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:22277967|PMID:25741868|PMID:28492532|PMID:31316545|PMID:32581362 12160204 BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:1826 epilepsy ISO RGD:1347169 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12160204 BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:3652 Leigh disease ISO RGD:1347169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:12215968|PMID:12910490|PMID:17314340|PMID:17403714|PMID:18771761|PMID:19389488|PMID:19508421|PMID:20472482|PMID:20518024|PMID:22277166|PMID:22991165|PMID:24033266|PMID:24172246|PMID:25741868|PMID:25895478|PMID:25914718|PMID:26467025|PMID:28492532|PMID:30582773|PMID:9545407 12160204 BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:3652 Leigh disease ISO RGD:1347169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:12215968|PMID:12910490|PMID:17314340|PMID:17403714|PMID:18771761|PMID:19162478|PMID:19389488|PMID:19508421|PMID:20472482|PMID:20518024|PMID:22277166|PMID:22991165|PMID:24033266|PMID:24172246|PMID:24704045|PMID:25741868|PMID:25895478|PMID:25914718|PMID:26467025|PMID:28492532|PMID:30582773|PMID:9545407 12160204 BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:630 genetic disease ISO RGD:1347169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12215968|PMID:16199547|PMID:17314340|PMID:17403714|PMID:19162478|PMID:19508421|PMID:22277166|PMID:25741868|PMID:25895478|PMID:25954003|PMID:27618451|PMID:27959697|PMID:28490743|PMID:28492532|PMID:30582773|PMID:30634555|PMID:31435670 12160204 BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1347169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:12215968|PMID:12910490|PMID:17314340|PMID:19162478|PMID:19389488|PMID:19508421|PMID:20518024|PMID:22277166|PMID:24033266|PMID:25741868|PMID:25895478|PMID:28492532 12160204 BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12160204 BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:9007653 Multiple Abnormalities susceptibility ISO RGD:1347169 D RGD:9068941 20200609 RGD DNA:mutations: ; mitochondrial complex III deficiency, OMIM:124000 PMID:11528392|REF_RGD_ID:1600515 12160204 BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:936 brain disease ISO RGD:1347169 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 12160227 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:731644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19223503 12160227 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:0050777 Joubert syndrome ISO RGD:731644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12160227 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:731644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 12160227 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:10763 hypertension ISO RGD:731644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19289642 12160227 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:12236 primary biliary cholangitis ISO RGD:620683 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:liver PMID:15769867|REF_RGD_ID:1642977 12160227 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:12930 dilated cardiomyopathy ISO RGD:620683 D RGD:9068941 20200609 RGD protein:increased activity:heart PMID:16043946|REF_RGD_ID:1643022 12160227 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:2018 hyperinsulinism ISO RGD:620683 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver, skeletal muscle PMID:15692808|REF_RGD_ID:1643026 12160227 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:219 colon cancer treatment ISO RGD:620683 D RGD:9068941 20210611 RGD PMID:33360052|REF_RGD_ID:127229954 12160227 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:5844 myocardial infarction ISO RGD:620683 D RGD:9068941 20200609 RGD protein:increased threonine phosphorylation:heart left ventricle PMID:16540832|REF_RGD_ID:1642998 12160227 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:630 genetic disease ISO RGD:731644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160227 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:767 muscular atrophy ISO RGD:620683 D RGD:9068941 20200609 RGD protein:decreased expression, decreased phosphorylation:soleus PMID:17885021|REF_RGD_ID:1642984 12160227 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:620683 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:kidney PMID:16221708|REF_RGD_ID:1643017 12160227 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:9002513 Hypoproteinemia ISO RGD:620683 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis, Experimental PMID:16169275|REF_RGD_ID:1643028 12160227 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:9003936 Cardiomegaly ISO RGD:620683 D RGD:9068941 20200609 RGD protein:increased threonine phosphorylation:heart left ventricle PMID:16540832|REF_RGD_ID:1642998 12160227 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:9004462 Atrophy ISO RGD:731644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16391472 12160227 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:731644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19289642 12160227 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:9007730 Burns ISO RGD:620683 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:heart PMID:14695116|REF_RGD_ID:1643025 12160227 RPS6KB1 ribosomal protein S6 kinase B1 gene DOID:9970 obesity ISO RGD:620683 D RGD:9068941 20200609 RGD protein:increased phosphorylation:skeletal muscle PMID:15604215|REF_RGD_ID:1642978 12160252 CNOT11 CCR4-NOT transcription complex subunit 11 gene DOID:630 genetic disease ISO RGD:1348103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160263 JADE2 jade family PHD finger 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12160263 JADE2 jade family PHD finger 2 gene DOID:630 genetic disease ISO RGD:1319333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160263 JADE2 jade family PHD finger 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12160263 JADE2 jade family PHD finger 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12160263 JADE2 jade family PHD finger 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12160263 JADE2 jade family PHD finger 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1319333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 12160300 UTP23 UTP23 small subunit processome component gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1601941 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P215Q (rs16888728) (human) PMID:26553438|REF_RGD_ID:11041896 12160300 UTP23 UTP23 small subunit processome component gene DOID:0080508 Cornelia de Lange syndrome 4 ISO RGD:1601941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 4 PMID:28492532 12160300 UTP23 UTP23 small subunit processome component gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1601941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12160300 UTP23 UTP23 small subunit processome component gene DOID:206 hereditary multiple exostoses ISO RGD:1601941 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 12160300 UTP23 UTP23 small subunit processome component gene DOID:630 genetic disease ISO RGD:1601941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160307 PRAG1 PEAK1 related, kinase-activating pseudokinase 1 gene DOID:630 genetic disease ISO RGD:11554295 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160316 GK5 glycerol kinase 5 gene DOID:630 genetic disease ISO RGD:1606415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160340 ATXN2 ataxin 2 gene DOID:0050955 spinocerebellar ataxia type 2 ISO RGD:1347160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 2 PMID:25741868 12160340 ATXN2 ataxin 2 gene DOID:0050955 spinocerebellar ataxia type 2 susceptibility ISO RGD:1347160 D RGD:7240710 20230505 OMIM 12160340 ATXN2 ataxin 2 gene DOID:0060470 salt and pepper syndrome ISO RGD:1347160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GM3 synthase deficiency PMID:25741868 12160340 ATXN2 ataxin 2 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1347160 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 12160340 ATXN2 ataxin 2 gene DOID:0060892 late onset Parkinson's disease susceptibility ISO RGD:1347160 D RGD:7240710 20230505 OMIM 12160340 ATXN2 ataxin 2 gene DOID:1067 open-angle glaucoma ISO RGD:1347160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26752265 12160340 ATXN2 ataxin 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1347160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12160340 ATXN2 ataxin 2 gene DOID:630 genetic disease ISO RGD:1347160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160340 ATXN2 ataxin 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1347160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19224595|PMID:20065139 12160370 NPHP4 nephrocystin 4 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1351118 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia PMID:25741868|PMID:28492532 12160370 NPHP4 nephrocystin 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1351118 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12160370 NPHP4 nephrocystin 4 gene DOID:0080205 CAKUT ISO RGD:1351118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:28492532|PMID:30143558 12160370 NPHP4 nephrocystin 4 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1351118 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:28492532 12160370 NPHP4 nephrocystin 4 gene DOID:0110999 Joubert syndrome 4 ISO RGD:1351118 D RGD:9068941 20200609 RGD DNA:mutations:exon, intron:multiple PMID:15776426|REF_RGD_ID:11068164 12160370 NPHP4 nephrocystin 4 gene DOID:0111112 nephronophthisis 1 ISO RGD:1351118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:12205563|PMID:15776426|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22773737|PMID:23217326|PMID:23559409|PMID:25741868|PMID:28492532|PMID:29127258|PMID:30143558 12160370 NPHP4 nephrocystin 4 gene DOID:0111115 nephronophthisis 4 ISO RGD:1351118 D RGD:7240710 20180130 OMIM 12160370 NPHP4 nephrocystin 4 gene DOID:0111115 nephronophthisis 4 ISO RGD:1351118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 4 PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:26346198|PMID:26489029|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:29127258|PMID:30143558|PMID:31810733|PMID:32865313|PMID:33532864|PMID:34295353|PMID:9536098 12160370 NPHP4 nephrocystin 4 gene DOID:10584 retinitis pigmentosa IAGP D RGD:12801476 20210603 OMIA Cone-rod dystrophy, Standard Wire-haired Dachshund PMID:18687878|PMID:19392817|PMID:22065099|PMID:17324160|PMID:18326738|PMID:23998563 12160370 NPHP4 nephrocystin 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1351118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868 12160370 NPHP4 nephrocystin 4 gene DOID:12712 nephronophthisis ISO RGD:1351118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:11920287|PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:26346198|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:29127258|PMID:30143558|PMID:6837691|PMID:9536098 12160370 NPHP4 nephrocystin 4 gene DOID:12712 nephronophthisis ISO RGD:1351118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:11920287|PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:26346198|PMID:26489029|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:29127258|PMID:30143558|PMID:31810733|PMID:32865313|PMID:34295353|PMID:6837691|PMID:9536098 12160370 NPHP4 nephrocystin 4 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1351118 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868|PMID:28492532 12160370 NPHP4 nephrocystin 4 gene DOID:14791 Leber congenital amaurosis ISO RGD:1351118 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25445212|PMID:25741868|PMID:26920127|PMID:28492532 12160370 NPHP4 nephrocystin 4 gene DOID:1682 congenital heart disease ISO RGD:1351118 D RGD:9068941 20200609 RGD DNA:missense mutations: :multiple PMID:22550138|REF_RGD_ID:11537354 12160370 NPHP4 nephrocystin 4 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1351118 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:15776426|PMID:25741868|PMID:28492532 12160370 NPHP4 nephrocystin 4 gene DOID:5223 infertility ISO RGD:1351118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infertility PMID:12205563|PMID:12244321|PMID:23559409|PMID:25558065|PMID:28492532 12160370 NPHP4 nephrocystin 4 gene DOID:557 kidney disease ISO RGD:1351118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:12205563|PMID:15776426|PMID:21546380|PMID:22773737|PMID:23217326|PMID:23559409|PMID:25741868|PMID:28492532|PMID:29127258 12160370 NPHP4 nephrocystin 4 gene DOID:630 genetic disease ISO RGD:1351118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12160370 NPHP4 nephrocystin 4 gene DOID:8501 fundus dystrophy ISO RGD:1351118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15776426|PMID:21068128|PMID:21546380|PMID:25741868|PMID:28492532 12160370 NPHP4 nephrocystin 4 gene DOID:9000511 Senior-Loken Syndrome 4 ISO RGD:1351118 D RGD:7240710 20180130 OMIM 12160370 NPHP4 nephrocystin 4 gene DOID:9000511 Senior-Loken Syndrome 4 ISO RGD:1351118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 4 PMID:11920287|PMID:12205563|PMID:1248184|PMID:15776426|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:21068128|PMID:21546380|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23559409|PMID:24033266|PMID:25445212|PMID:25472526|PMID:25741868|PMID:26346198|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:29127258|PMID:34295353|PMID:6837691|PMID:9536098 12160370 NPHP4 nephrocystin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12160430 MON1B MON1 homolog B, secretory trafficking associated gene DOID:0070168 spermatogenic failure 3 ISO RGD:1605088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:28492532|PMID:31479588 12160430 MON1B MON1 homolog B, secretory trafficking associated gene DOID:630 genetic disease ISO RGD:1605088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160443 ZNF668 zinc finger protein 668 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1605939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12160443 ZNF668 zinc finger protein 668 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1605939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:25362483|PMID:26818399|PMID:28492532 12160443 ZNF668 zinc finger protein 668 gene DOID:10907 microcephaly ISO RGD:1605939 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Progressive microcephaly PMID:26633546|PMID:34313816 12160443 ZNF668 zinc finger protein 668 gene DOID:2661 myoepithelioma ISO RGD:1605939 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12160443 ZNF668 zinc finger protein 668 gene DOID:630 genetic disease ISO RGD:1605939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160443 ZNF668 zinc finger protein 668 gene DOID:9001276 Failure to Thrive ISO RGD:1605939 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:26633546|PMID:34313816 12160443 ZNF668 zinc finger protein 668 gene DOID:9005566 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES ISO RGD:1605939 D RGD:7240710 20230505 OMIM 12160443 ZNF668 zinc finger protein 668 gene DOID:9005566 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES ISO RGD:1605939 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies PMID:26633546|PMID:34313816 12160443 ZNF668 zinc finger protein 668 gene DOID:9005834 Ependymomas ISO RGD:1605939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075792 12160457 ANAPC2 anaphase promoting complex subunit 2 gene DOID:0050777 Joubert syndrome ISO RGD:1313636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12160457 ANAPC2 anaphase promoting complex subunit 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1313636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12160457 ANAPC2 anaphase promoting complex subunit 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1313636 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12160457 ANAPC2 anaphase promoting complex subunit 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1313636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12160457 ANAPC2 anaphase promoting complex subunit 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1313636 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12160457 ANAPC2 anaphase promoting complex subunit 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1313636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12160457 ANAPC2 anaphase promoting complex subunit 2 gene DOID:0112104 Sotos syndrome 3 ISO RGD:1313637 D RGD:9068941 20200609 RGD PMID:25753423|REF_RGD_ID:11055469 12160457 ANAPC2 anaphase promoting complex subunit 2 gene DOID:12449 aplastic anemia ISO RGD:1313636 D RGD:9068941 20200609 RGD protein:decreased expression:bone marrow (human) PMID:28968996|REF_RGD_ID:14696669 12160457 ANAPC2 anaphase promoting complex subunit 2 gene DOID:1405 primary angle-closure glaucoma ISO RGD:1313636 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor of eyeball (human) PMID:29332228|REF_RGD_ID:14696671 12160457 ANAPC2 anaphase promoting complex subunit 2 gene DOID:1826 epilepsy ISO RGD:1313636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12160457 ANAPC2 anaphase promoting complex subunit 2 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1313636 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (human) PMID:12036940|REF_RGD_ID:14696682 12160457 ANAPC2 anaphase promoting complex subunit 2 gene DOID:5386 lung adenoma ISO RGD:1313636 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (human) PMID:14647414|REF_RGD_ID:10047051 12160457 ANAPC2 anaphase promoting complex subunit 2 gene DOID:630 genetic disease ISO RGD:1313636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160457 ANAPC2 anaphase promoting complex subunit 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1313636 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:25724728|REF_RGD_ID:14696679 12160457 ANAPC2 anaphase promoting complex subunit 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1313636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12160457 ANAPC2 anaphase promoting complex subunit 2 gene DOID:9008023 Memory Disorders ISO RGD:1313637 D RGD:9068941 20200609 RGD PMID:21191042|REF_RGD_ID:14696672 12160457 ANAPC2 anaphase promoting complex subunit 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1313636 D RGD:9068941 20200609 RGD mRNA:increased expression:blood (human) PMID:26046517|REF_RGD_ID:11067888 12160474 MIF4GD MIF4G domain containing gene DOID:630 genetic disease ISO RGD:1606529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160494 MLST8 MTOR associated protein, LST8 homolog gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736229 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 12160494 MLST8 MTOR associated protein, LST8 homolog gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 12160494 MLST8 MTOR associated protein, LST8 homolog gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12160494 MLST8 MTOR associated protein, LST8 homolog gene DOID:1826 epilepsy ISO RGD:736229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12160494 MLST8 MTOR associated protein, LST8 homolog gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12160494 MLST8 MTOR associated protein, LST8 homolog gene DOID:2871 endometrial carcinoma ISO RGD:736229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 12160494 MLST8 MTOR associated protein, LST8 homolog gene DOID:630 genetic disease ISO RGD:736229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160494 MLST8 MTOR associated protein, LST8 homolog gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12160509 FBXW2 F-box and WD repeat domain containing 2 gene DOID:630 genetic disease ISO RGD:1321373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160519 UCN urocortin gene DOID:0060180 colitis ISO RGD:3929 D RGD:9068941 20200609 RGD mRNA:altered expression:distal colon (rat) PMID:21330446|REF_RGD_ID:5490987 12160519 UCN urocortin gene DOID:0080125 mitochondrial DNA depletion syndrome 6 ISO RGD:1349219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Navajo neurohepatopathy PMID:25741868 12160519 UCN urocortin gene DOID:0080855 Parkinsonism ISO RGD:3929 D RGD:9068941 20200609 RGD PMID:21362449|REF_RGD_ID:5508188 12160519 UCN urocortin gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1349219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12160519 UCN urocortin gene DOID:10763 hypertension ISO RGD:1349219 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20237592 12160519 UCN urocortin gene DOID:10763 hypertension ISO RGD:1349219 D RGD:9068941 20200609 RGD associated with Pregnancy Complications;protein:increased expression:plasma PMID:16915033|REF_RGD_ID:1642775 12160519 UCN urocortin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1349219 D RGD:9068941 20200609 RGD PMID:14577573|REF_RGD_ID:1580792 12160519 UCN urocortin gene DOID:12930 dilated cardiomyopathy ISO RGD:1349219 D RGD:9068941 20200609 RGD PMID:14577573|REF_RGD_ID:1580792 12160519 UCN urocortin gene DOID:12930 dilated cardiomyopathy ISO RGD:1349219 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:11087261|REF_RGD_ID:1642796 12160519 UCN urocortin gene DOID:2030 anxiety disorder ISO RGD:1349219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16488545 12160519 UCN urocortin gene DOID:2841 asthma ISO RGD:3929 D RGD:9068941 20200609 RGD associated with Hypersensitivity;mRNA, protein:increased expression:lung PMID:16427607|REF_RGD_ID:1642781 12160519 UCN urocortin gene DOID:6000 congestive heart failure ISO RGD:1349219 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:19808377|REF_RGD_ID:5490589 12160519 UCN urocortin gene DOID:630 genetic disease ISO RGD:1349219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160519 UCN urocortin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3929 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA:increased expression:heart left ventricle PMID:11087261|REF_RGD_ID:1642796 12160519 UCN urocortin gene DOID:9005372 Inflammation ISO RGD:1349219 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10213916 12160519 UCN urocortin gene DOID:9006024 Hypotension ISO RGD:1349219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10213916 12160519 UCN urocortin gene DOID:9007730 Burns ISO RGD:3929 D RGD:9068941 20200609 RGD PMID:16125201|REF_RGD_ID:1642782 12160519 UCN urocortin gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3929 D RGD:9068941 20200609 RGD PMID:15806110|REF_RGD_ID:1642783 12160519 UCN urocortin gene DOID:9970 obesity treatment ISO RGD:735588 D RGD:9068941 20200609 RGD PMID:17932219|REF_RGD_ID:1642774 12160519 Ucn urocortin gene DOID:12918 thromboangiitis obliterans ISO RGD:3929 D RGD:9068941 20200609 RGD PMID:19572944|REF_RGD_ID:5508315 12160532 NAAA N-acylethanolamine acid amidase gene DOID:630 genetic disease ISO RGD:1316359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160532 NAAA N-acylethanolamine acid amidase gene DOID:891 progressive myoclonus epilepsy ISO RGD:1316359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 12160532 NAAA N-acylethanolamine acid amidase gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1316359 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12160546 MR1 major histocompatibility complex, class I-related gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1343564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12160546 MR1 major histocompatibility complex, class I-related gene DOID:1540 parathyroid carcinoma ISO RGD:1343564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12160546 MR1 major histocompatibility complex, class I-related gene DOID:630 genetic disease ISO RGD:1343564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160546 MR1 major histocompatibility complex, class I-related gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1343564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12160546 MR1 major histocompatibility complex, class I-related gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12160554 RGS7 regulator of G protein signaling 7 gene DOID:1059 intellectual disability ISO RGD:733586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12160554 RGS7 regulator of G protein signaling 7 gene DOID:1540 parathyroid carcinoma ISO RGD:733586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12160554 RGS7 regulator of G protein signaling 7 gene DOID:630 genetic disease ISO RGD:733586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160554 RGS7 regulator of G protein signaling 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12160554 RGS7 regulator of G protein signaling 7 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:733586 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 12160554 RGS7 regulator of G protein signaling 7 gene DOID:9007090 Experimental Seizures ISO RGD:3570 D RGD:9068941 20200609 RGD PMID:12358788|REF_RGD_ID:13524540 12160554 RGS7 regulator of G protein signaling 7 gene DOID:9007096 Stroke ISO RGD:733586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 12160554 RGS7 regulator of G protein signaling 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12160588 BMP3 bone morphogenetic protein 3 gene DOID:630 genetic disease ISO RGD:735356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160588 BMP3 bone morphogenetic protein 3 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:735356 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12160588 BMP3 bone morphogenetic protein 3 gene DOID:9001547 Tibial Fractures ISO RGD:2212 D RGD:9068941 20200609 RGD protein:increased expression:tibia PMID:16651391|REF_RGD_ID:2289037 12160633 MARVELD1 MARVEL domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:1353944 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12160633 MARVELD1 MARVEL domain containing 1 gene DOID:14566 disease of cellular proliferation ISO RGD:1353944 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:31205918 12160633 MARVELD1 MARVEL domain containing 1 gene DOID:630 genetic disease ISO RGD:1353944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160645 MTERF2 mitochondrial transcription termination factor 2 gene DOID:0080600 COVID-19 ISO RGD:1604591 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12160645 MTERF2 mitochondrial transcription termination factor 2 gene DOID:630 genetic disease ISO RGD:1604591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160675 FBXO9 F-box protein 9 gene DOID:630 genetic disease ISO RGD:1321245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160675 FBXO9 F-box protein 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1321245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12160700 CFAP61 cilia and flagella associated protein 61 gene DOID:0070311 oligoasthenoteratozoospermia ISO RGD:1618265 D RGD:9068941 20230413 MouseDO 12160700 CFAP61 cilia and flagella associated protein 61 gene DOID:630 genetic disease ISO RGD:1323021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160743 KAT14 lysine acetyltransferase 14 gene DOID:630 genetic disease ISO RGD:1319928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160743 KAT14 lysine acetyltransferase 14 gene DOID:9006233 Mitochondrial Complex IV Deficiency, Nuclear Type 19 ISO RGD:1319928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 PMID:25741868|PMID:28386624 12160743 KAT14 lysine acetyltransferase 14 gene DOID:9008086 Developmental Disabilities ISO RGD:1319928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:26539891 12160757 FKRP fukutin related protein gene DOID:0050559 Fukuyama congenital muscular dystrophy ISO RGD:1314133 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 PMID:25741868 12160757 FKRP fukutin related protein gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1314133 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20623375|PMID:20675713|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26990548|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:32864802|PMID:33077954|PMID:34008892|PMID:34653404 12160757 FKRP fukutin related protein gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20623375|PMID:20675713|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26990548|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:34008892|PMID:34653404 12160757 FKRP fukutin related protein gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1314133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34509255|PMID:34602496|PMID:34653404 12160757 FKRP fukutin related protein gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1314133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34509255|PMID:34602496|PMID:34653404 12160757 FKRP fukutin related protein gene DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ISO RGD:1314134 D RGD:9068941 20220825 MouseDO OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 12160757 FKRP fukutin related protein gene DOID:0050700 cardiomyopathy ISO RGD:1314133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:16368217|PMID:21816046|PMID:24556424|PMID:25741868|PMID:26467025|PMID:26990548|PMID:28492532 12160757 FKRP fukutin related protein gene DOID:0050700 cardiomyopathy ISO RGD:1314133 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11741828|PMID:16344347|PMID:16368217|PMID:17994539|PMID:18832576|PMID:21816046|PMID:22451200|PMID:24556424|PMID:25741868|PMID:26467025|PMID:26990548|PMID:27884173|PMID:28492532|PMID:28688748 12160757 FKRP fukutin related protein gene DOID:0080000 muscular disease ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:11741828|PMID:12666124|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:34008892|PMID:34653404 12160757 FKRP fukutin related protein gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1314133 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:11741828|PMID:12666124|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31268217|PMID:32419263|PMID:32746448|PMID:34008892|PMID:34653404 12160757 FKRP fukutin related protein gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1314133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:11741828|PMID:12666124|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29382405|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32419263|PMID:32429923|PMID:32746448|PMID:34008892|PMID:34653404 12160757 FKRP fukutin related protein gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1314133 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:11741828|PMID:12666124|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:27302555|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29382405|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32419263|PMID:32429923|PMID:32746448|PMID:34008892|PMID:34653404 12160757 FKRP fukutin related protein gene DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ISO RGD:1314133 D RGD:7240710 20180130 OMIM 12160757 FKRP fukutin related protein gene DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ISO RGD:1314133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2I | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 9 PMID:11053680|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16288869|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20623375|PMID:20675713|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:34008892|PMID:34509255|PMID:34602496|PMID:34653404 12160757 FKRP fukutin related protein gene DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I treatment ISO RGD:1314133 D RGD:9068941 20200609 RGD PMID:25048216|REF_RGD_ID:11667961 12160757 FKRP fukutin related protein gene DOID:0110635 muscular dystrophy-dystroglycanopathy type B5 ISO RGD:1314133 D RGD:7240710 20180130 OMIM 12160757 FKRP fukutin related protein gene DOID:0110635 muscular dystrophy-dystroglycanopathy type B5 ISO RGD:1314133 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B5 PMID:11053680|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:14652796|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18752264|PMID:18832576|PMID:19244252|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19955119|PMID:20675713|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:22264518|PMID:22451200|PMID:22981120|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23894383|PMID:24033266|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27439679|PMID:27627455|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29382405|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32429923|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:34008892|PMID:34653404 12160757 FKRP fukutin related protein gene DOID:0110644 long QT syndrome 1 ISO RGD:1314133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:28492532 12160757 FKRP fukutin related protein gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1314133 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32429923|PMID:32746448|PMID:33077954|PMID:33200426|PMID:34008892|PMID:34653404 12160757 FKRP fukutin related protein gene DOID:0111241 congenital muscular dystrophy-dystroglycanopathy type A5 ISO RGD:1314133 D RGD:7240710 20180130 OMIM 12160757 FKRP fukutin related protein gene DOID:0111241 congenital muscular dystrophy-dystroglycanopathy type A5 ISO RGD:1314133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 PMID:11592034|PMID:11741828|PMID:12471058|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:14652796|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19955119|PMID:20236121|PMID:20675713|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:22264518|PMID:22451200|PMID:22981120|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27439679|PMID:27627455|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29382405|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32429923|PMID:32746448|PMID:33077954|PMID:33200426|PMID:34008892|PMID:34653404 12160757 FKRP fukutin related protein gene DOID:0112374 muscular dystrophy-dystroglycanopathy ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy PMID:11741828|PMID:12666124|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:32419263|PMID:34008892|PMID:34653404 12160757 FKRP fukutin related protein gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:11741828|PMID:12666124|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:34008892|PMID:34653404 12160757 FKRP fukutin related protein gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314133 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:11741828|PMID:16344347|PMID:16368217|PMID:17994539|PMID:18832576|PMID:21816046|PMID:22451200|PMID:24556424|PMID:25741868|PMID:26467025|PMID:26990548|PMID:27884173|PMID:28492532|PMID:28688748 12160757 FKRP fukutin related protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1314133 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11741828|PMID:16344347|PMID:17994539|PMID:18832576|PMID:22451200|PMID:25741868|PMID:27884173|PMID:28492532|PMID:28688748 12160757 FKRP fukutin related protein gene DOID:423 myopathy ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy PMID:11741828|PMID:12666124|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:34008892|PMID:34653404 12160757 FKRP fukutin related protein gene DOID:630 genetic disease ISO RGD:1314133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12160757 FKRP fukutin related protein gene DOID:9000053 Headache ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Headache PMID:11741828|PMID:12666124|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:34008892|PMID:34653404 12160757 FKRP fukutin related protein gene DOID:9000887 Muscular Dystrophy, Animal ISO RGD:1314134 D RGD:9068941 20200609 RGD PMID:21224063|REF_RGD_ID:11667970 12160757 FKRP fukutin related protein gene DOID:9000887 Muscular Dystrophy, Animal ISO RGD:1314134 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.P448L (1343C>T) (mouse) PMID:20675713|REF_RGD_ID:11667960 12160757 FKRP fukutin related protein gene DOID:9003242 Paresthesia ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Paresthesia PMID:11741828|PMID:12666124|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:34008892|PMID:34653404 12160757 FKRP fukutin related protein gene DOID:9005532 Muscle Weakness ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:11741828|PMID:12666124|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:34008892|PMID:34653404 12160757 FKRP fukutin related protein gene DOID:9006181 Congenital Muscular Dystrophy with Central Nervous System Involvement ISO RGD:1314133 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement PMID:25741868 12160757 FKRP fukutin related protein gene DOID:9007114 Mobility Limitation ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:11741828|PMID:12666124|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:34008892|PMID:34653404 12160757 FKRP fukutin related protein gene DOID:9884 muscular dystrophy ISO RGD:1314133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:17336067|PMID:25741868|PMID:28492532|PMID:29065428|PMID:31041397|PMID:31671740|PMID:31931849|PMID:34653404 12160767 CYB561D2 cytochrome b561 family member D2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:24358150|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31785789|PMID:9536098 12160767 CYB561D2 cytochrome b561 family member D2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:24358150|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31785789|PMID:9536098 12160767 CYB561D2 cytochrome b561 family member D2 gene DOID:630 genetic disease ISO RGD:1353992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12160767 CYB561D2 cytochrome b561 family member D2 gene DOID:9009196 Cerebellar Atrophy with Seizures and Variable Developmental Delay ISO RGD:1353992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay PMID:25741868|PMID:28492532|PMID:29997391 12160777 MECOM MDS1 and EVI1 complex locus gene DOID:0070004 myeloid neoplasm ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29047144 12160777 MECOM MDS1 and EVI1 complex locus gene DOID:0070004 myeloid neoplasm ISO RGD:1322216 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:9044825|REF_RGD_ID:10450608 12160777 MECOM MDS1 and EVI1 complex locus gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1322216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:25741868|PMID:27192671 12160777 MECOM MDS1 and EVI1 complex locus gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1322216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 12160777 MECOM MDS1 and EVI1 complex locus gene DOID:1037 lymphoid leukemia ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770046 12160777 MECOM MDS1 and EVI1 complex locus gene DOID:1062 Fanconi syndrome ISO RGD:1322216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 12160777 MECOM MDS1 and EVI1 complex locus gene DOID:10754 otitis media ISO RGD:1322217 D RGD:9068941 20200609 RGD PMID:26611891|REF_RGD_ID:11054805 12160777 MECOM MDS1 and EVI1 complex locus gene DOID:10754 otitis media ISO RGD:1322217 D RGD:9068941 20220825 MouseDO OMIM:166760 12160777 MECOM MDS1 and EVI1 complex locus gene DOID:12450 pancytopenia ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 12160777 MECOM MDS1 and EVI1 complex locus gene DOID:1588 thrombocytopenia ISO RGD:1322216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 12160777 MECOM MDS1 and EVI1 complex locus gene DOID:1788 peritoneal mesothelioma ISO RGD:1322216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant peritoneal mesothelioma 12160777 MECOM MDS1 and EVI1 complex locus gene DOID:2213 hemorrhagic disease ISO RGD:1322216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:28492532|PMID:32935436 12160777 MECOM MDS1 and EVI1 complex locus gene DOID:5426 primary ovarian insufficiency ISO RGD:1322216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12160777 MECOM MDS1 and EVI1 complex locus gene DOID:630 genetic disease ISO RGD:1322216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12160777 MECOM MDS1 and EVI1 complex locus gene DOID:8692 myeloid leukemia ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770046 12160777 MECOM MDS1 and EVI1 complex locus gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29047144 12160777 MECOM MDS1 and EVI1 complex locus gene DOID:9002720 Splenomegaly ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 12160777 MECOM MDS1 and EVI1 complex locus gene DOID:9002762 Ovarian Neoplasms ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770046 12160777 MECOM MDS1 and EVI1 complex locus gene DOID:9002928 Colonic Neoplasms ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770046 12160777 MECOM MDS1 and EVI1 complex locus gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20512145 12160777 MECOM MDS1 and EVI1 complex locus gene DOID:9005539 Familial Prostate Cancer ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12160777 MECOM MDS1 and EVI1 complex locus gene DOID:9007517 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 ISO RGD:1322216 D RGD:7240710 20180130 OMIM 12160777 MECOM MDS1 and EVI1 complex locus gene DOID:9007517 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 ISO RGD:1322216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 PMID:20091385|PMID:25741868|PMID:26581901|PMID:28492532|PMID:29146883|PMID:29519864|PMID:34355501 12160777 MECOM MDS1 and EVI1 complex locus gene DOID:9008939 Breast Neoplasms ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770046 12160777 MECOM MDS1 and EVI1 complex locus gene DOID:9119 acute myeloid leukemia ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30472098 12160777 MECOM MDS1 and EVI1 complex locus gene DOID:9827 radioulnar synostosis ISO RGD:1322216 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Radioulnar synostosis 12160811 SMTNL2 smoothelin like 2 gene DOID:630 genetic disease ISO RGD:1605229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160823 LOC609523 signal-regulatory protein beta-1 gene DOID:630 genetic disease ISO RGD:1604807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160839 CCDC157 coiled-coil domain containing 157 gene DOID:630 genetic disease ISO RGD:1604878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160870 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:0060001 withdrawal disorder ISO RGD:736842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17105947 12160870 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12160870 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:10283 prostate cancer ISO RGD:736842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12160870 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:11476 osteoporosis ISO RGD:736842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 PMID:24088041|PMID:26633545 12160870 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:11983 Prader-Willi syndrome ISO RGD:10748 D RGD:9068941 20220825 MouseDO OMIM:176270 12160870 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:12849 autistic disorder ISO RGD:736842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12160870 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:1470 major depressive disorder treatment ISO RGD:2848 D RGD:9068941 20200609 RGD mRNA:increased editing PMID:16005997|REF_RGD_ID:1624993 12160870 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:2030 anxiety disorder ISO RGD:2848 D RGD:9068941 20200609 RGD PMID:17074317|REF_RGD_ID:1625000 12160870 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:303 substance-related disorder ISO RGD:2848 D RGD:9068941 20200609 RGD PMID:16474401|REF_RGD_ID:2292548 12160870 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:3312 bipolar disorder ISO RGD:736842 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C23S (human) PMID:8823764|REF_RGD_ID:1358737 12160870 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:5419 schizophrenia ISO RGD:736842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12160870 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:5419 schizophrenia treatment ISO RGD:736842 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C23S (human) PMID:8742444|REF_RGD_ID:1358736 12160870 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:630 genetic disease ISO RGD:736842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160870 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:9000641 Pain ISO RGD:2848 D RGD:9068941 20200609 RGD PMID:17451674|REF_RGD_ID:1624996 12160870 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2848 D RGD:9068941 20200609 RGD protein:increased expression:brainstem, cerebral cortex PMID:17258772|REF_RGD_ID:1624998 12160870 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:9002362 Hyperkinesis ISO RGD:736842 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19347958 12160870 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:9004657 Weight Gain ISO RGD:736842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19434072|PMID:19997080 12160870 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:9005968 Neuralgia ISO RGD:736842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28011743 12160870 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:9006646 Metabolic Syndrome ISO RGD:736842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632216|PMID:18515891|PMID:19142101 12160870 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:9352 type 2 diabetes mellitus ISO RGD:10748 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 12160870 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:9970 obesity ISO RGD:736842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17702092|PMID:19142110 12160870 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:9970 obesity susceptibility ISO RGD:736842 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-759C>T PMID:15048662|REF_RGD_ID:1624991 12160870 HTR2C 5-hydroxytryptamine receptor 2C gene DOID:9970 obesity susceptibility ISO RGD:736842 D RGD:9068941 20200609 RGD associated with Schizophrenia and Psychotic Disorders;DNA:polymorphisms:promoter:multiple PMID:17016522|REF_RGD_ID:1624982 12160887 ATF4 activating transcription factor 4 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:733712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12160887 ATF4 activating transcription factor 4 gene DOID:0060478 Zika fever ISO RGD:733713 D RGD:9068941 20200702 RGD mRNA:increased expression:brain PMID:30241539|REF_RGD_ID:32733625 12160887 ATF4 activating transcription factor 4 gene DOID:10286 prostate carcinoma treatment ISO RGD:733712 D RGD:9068941 20200609 RGD PMID:25680860|REF_RGD_ID:13504680 12160887 ATF4 activating transcription factor 4 gene DOID:11132 prostatic hypertrophy ISO RGD:733713 D RGD:9068941 20200609 RGD PMID:28988820|REF_RGD_ID:13504679 12160887 ATF4 activating transcription factor 4 gene DOID:3008 invasive ductal carcinoma ISO RGD:733712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14604972 12160887 ATF4 activating transcription factor 4 gene DOID:5154 borna disease ISO RGD:621863 D RGD:9068941 20200702 RGD protein:increased expression:cerebellum PMID:16912310|REF_RGD_ID:32733622 12160887 ATF4 activating transcription factor 4 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:621863 D RGD:9068941 20200903 RGD protein:increased expression:lung PMID:32209028|REF_RGD_ID:38549370 12160887 ATF4 activating transcription factor 4 gene DOID:630 genetic disease ISO RGD:733712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160887 ATF4 activating transcription factor 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:733712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 12160887 ATF4 activating transcription factor 4 gene DOID:9002669 Hypoxia ISO RGD:733712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14604972 12160887 ATF4 activating transcription factor 4 gene DOID:9005749 Necrosis ISO RGD:733712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14604972 12160887 ATF4 activating transcription factor 4 gene DOID:9452 fatty liver disease ISO RGD:733712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27664470 12160894 RARRES2 retinoic acid receptor responder 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1309874 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver,serum PMID:23507574|REF_RGD_ID:15036822 12160894 RARRES2 retinoic acid receptor responder 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1320450 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:23507574|REF_RGD_ID:15036822 12160894 RARRES2 retinoic acid receptor responder 2 gene DOID:0080208 non-alcoholic fatty liver disease disease_progression ISO RGD:1320451 D RGD:9068941 20200609 RGD PMID:23507574|REF_RGD_ID:15036822 12160894 RARRES2 retinoic acid receptor responder 2 gene DOID:10591 pre-eclampsia ISO RGD:1320450 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34398343 12160894 RARRES2 retinoic acid receptor responder 2 gene DOID:10603 glucose intolerance ISO RGD:1320450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22355640 12160894 RARRES2 retinoic acid receptor responder 2 gene DOID:10825 essential hypertension ISO RGD:1320450 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24047472|REF_RGD_ID:15036820 12160894 RARRES2 retinoic acid receptor responder 2 gene DOID:11612 polycystic ovary syndrome treatment ISO RGD:1309874 D RGD:9068941 20200609 RGD PMID:24762064|REF_RGD_ID:15036823 12160894 RARRES2 retinoic acid receptor responder 2 gene DOID:2999 granulosa cell tumor ISO RGD:1320450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29653259 12160894 RARRES2 retinoic acid receptor responder 2 gene DOID:630 genetic disease ISO RGD:1320450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160894 RARRES2 retinoic acid receptor responder 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1309874 D RGD:9068941 20200609 RGD protein:increased expression:multiple: PMID:30873215|REF_RGD_ID:15036825 12160894 RARRES2 retinoic acid receptor responder 2 gene DOID:9970 obesity ISO RGD:1309874 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:30873215|PMID:31284705|REF_RGD_ID:15036824|REF_RGD_ID:15036825 12160905 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0050700 cardiomyopathy ISO RGD:1346463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:24938736|PMID:25741868|PMID:25997934|PMID:26265630|PMID:27532257|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28707430|PMID:28771489|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30615648|PMID:30847666|PMID:31513939|PMID:31737537|PMID:31785789|PMID:31838722|PMID:32009526|PMID:32150461|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33495597|PMID:33673806|PMID:9536098 12160905 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0050700 cardiomyopathy ISO RGD:1346463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:24938736|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26265630|PMID:27532257|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28707430|PMID:28771489|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30615648|PMID:30847666|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31785789|PMID:31838722|PMID:32009526|PMID:32150461|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33495597|PMID:33673806|PMID:33762593|PMID:35413566|PMID:9536098 12160905 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1346463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:25741868|PMID:25997934|PMID:27532257|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28917552|PMID:29298659|PMID:30847666|PMID:31513939|PMID:31737537|PMID:32681253|PMID:33244021|PMID:33673806|PMID:33762593 12160905 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1346463 D RGD:7240710 20180130 OMIM 12160905 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1346463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart | ClinVar Annotator: match by term: PHOSPHORYLASE KINASE DEFICIENCY OF HEART PMID:10355918|PMID:10368461|PMID:10820940|PMID:11371514|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14696860|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16487706|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18348270|PMID:18403758|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23741347|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24938736|PMID:25606385|PMID:25611685|PMID:25640679|PMID:25741868|PMID:25997934|PMID:26085771|PMID:26265630|PMID:27532257|PMID:27573176|PMID:27621313|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28546535|PMID:28690312|PMID:28707430|PMID:28771489|PMID:28801758|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30165862|PMID:30206291|PMID:30336887|PMID:30615648|PMID:30847666|PMID:31513939|PMID:31527676|PMID:31720784|PMID:31737537|PMID:31785789|PMID:31838722|PMID:32009526|PMID:32150461|PMID:32215636|PMID:32259713|PMID:32314121|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33495597|PMID:33673806|PMID:33762593|PMID:35413566|PMID:9536098 12160905 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1346463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:14519435|PMID:24033266|PMID:25741868|PMID:28492532 12160905 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1346463 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:25741868|PMID:25997934|PMID:27532257|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28917552|PMID:29298659|PMID:30847666|PMID:31513939|PMID:31527676|PMID:31737537|PMID:32681253|PMID:33244021|PMID:33673806|PMID:33762593 12160905 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0110312 hypertrophic cardiomyopathy 6 ISO RGD:1346463 D RGD:7240710 20180130 OMIM 12160905 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0110312 hypertrophic cardiomyopathy 6 ISO RGD:1346463 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 6 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 6 PMID:10355918|PMID:10820940|PMID:11371514|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16487706|PMID:16686673|PMID:16716659|PMID:16836667|PMID:17483151|PMID:17597581|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18403758|PMID:19787389|PMID:19808419|PMID:20005292|PMID:20031621|PMID:20381067|PMID:20600102|PMID:20888928|PMID:21409595|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24558114|PMID:25092788|PMID:25741868|PMID:25997934|PMID:26085771|PMID:26729852|PMID:27532257|PMID:27573176|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28917552|PMID:29298659|PMID:29875424|PMID:30165862|PMID:30336887|PMID:30847666|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31838722|PMID:32314121|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33673806|PMID:33762593|PMID:7657794 12160905 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0111101 maturity-onset diabetes of the young type 5 ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal cysts and diabetes syndrome PMID:23778007|PMID:23992123|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28498465 12160905 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:10763 hypertension ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension PMID:25741868|PMID:28492532 12160905 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1346463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10355918|PMID:10368461|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14696860|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16487706|PMID:16686673|PMID:16716659|PMID:16836667|PMID:17483151|PMID:17597581|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18403758|PMID:19787389|PMID:19808419|PMID:20005292|PMID:20031621|PMID:20381067|PMID:20600102|PMID:20888928|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:25092788|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26085771|PMID:26729852|PMID:27532257|PMID:27573176|PMID:27621313|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28801758|PMID:28917552|PMID:29298659|PMID:30165862|PMID:30336887|PMID:31513939|PMID:31737537|PMID:32314121|PMID:32681253|PMID:33244021|PMID:33673806 12160905 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 12160905 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:2747 glycogen storage disease ISO RGD:1346463 D RGD:9068941 20200609 RGD PMID:15877279|REF_RGD_ID:1580717 12160905 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:2843 long QT syndrome ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 12160905 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:3393 coronary artery disease ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease PMID:25741868|PMID:28492532 12160905 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1346463 D RGD:7240710 20180130 OMIM 12160905 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1346463 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar Annotator: match by term: Wolff-Parkinson-White syndrome, childhood-onset PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:25741868|PMID:25997934|PMID:27532257|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28917552|PMID:29253866|PMID:29298659|PMID:32746448 12160905 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1346463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: False bundle branch block syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar Annotator: match by term: Wolff-Parkinson-White syndrome, childhood-onset PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16339829|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24352254|PMID:24503780|PMID:24558114|PMID:25741868|PMID:25997934|PMID:27532257|PMID:27621313|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28917552|PMID:29121657|PMID:29253866|PMID:29298659|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31737537|PMID:31838722|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33673806 12160905 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1346463 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: False bundle branch block syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar Annotator: match by term: Wolff-Parkinson-White syndrome, childhood-onset PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16339829|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24352254|PMID:24558114|PMID:25741868|PMID:25997934|PMID:27532257|PMID:27621313|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31838722|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33673806|PMID:33762593 12160905 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:6000 congestive heart failure ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congestive heart failure | ClinVar Annotator: match by term: Heart failure PMID:21409595|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532 12160905 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:630 genetic disease ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12160905 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:25741868|PMID:28492532 12160905 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532 12160905 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:9007096 Stroke ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28492532 12160926 TBX3 T-box transcription factor 3 gene DOID:0060614 ulnar-mammary syndrome ISO RGD:1345948 D RGD:7240710 20180130 OMIM 12160926 TBX3 T-box transcription factor 3 gene DOID:0060614 ulnar-mammary syndrome ISO RGD:1345948 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ulnar-mammary syndrome PMID:12116211|PMID:12668170|PMID:16530712|PMID:16896345|PMID:17576681|PMID:19938096|PMID:25741868|PMID:28145909|PMID:28492532|PMID:30654152|PMID:31669645|PMID:9207801|PMID:9536098 12160926 TBX3 T-box transcription factor 3 gene DOID:10534 stomach cancer disease_progression ISO RGD:1345948 D RGD:9068941 20220224 RGD protein:increased expression:stomach (human) PMID:27553355|REF_RGD_ID:151361120 12160926 TBX3 T-box transcription factor 3 gene DOID:2394 ovarian cancer ISO RGD:1345948 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17031801|REF_RGD_ID:2300329 12160926 TBX3 T-box transcription factor 3 gene DOID:50 thyroid gland disease ISO RGD:1345948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 12160926 TBX3 T-box transcription factor 3 gene DOID:5844 myocardial infarction ISO RGD:735203 D RGD:9068941 20200609 RGD PMID:19341743|REF_RGD_ID:5132891 12160926 TBX3 T-box transcription factor 3 gene DOID:630 genetic disease ISO RGD:1345948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12005433|PMID:25741868|PMID:28145909|PMID:28492532 12160926 TBX3 T-box transcription factor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1557562 D RGD:9068941 20220224 RGD PMID:33577921|REF_RGD_ID:151361112 12160926 TBX3 T-box transcription factor 3 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1345948 D RGD:9068941 20220224 RGD human cells in mouse model PMID:22811581|PMID:26922018|REF_RGD_ID:151361123|REF_RGD_ID:151361132 12160926 TBX3 T-box transcription factor 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1345948 D RGD:9068941 20220224 RGD protein:increased expression:liver (human) PMID:30578408|REF_RGD_ID:151361122 12160926 TBX3 T-box transcription factor 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1345948 D RGD:9068941 20220224 RGD protein:increased expression:liver (human) PMID:29295731|REF_RGD_ID:151361114 12160926 TBX3 T-box transcription factor 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1345948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12160926 TBX3 T-box transcription factor 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 12160926 TBX3 T-box transcription factor 3 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1345948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9207801 12160926 TBX3 T-box transcription factor 3 gene DOID:9007096 Stroke ISO RGD:1345948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 12160926 TBX3 T-box transcription factor 3 gene DOID:9007653 Multiple Abnormalities susceptibility ISO RGD:1345948 D RGD:9068941 20200609 RGD Ulnar-Mammary Syndrome, OMIM:181450;DNA:deletions, missense mutations, frameshift mutations: :multiple PMID:10330342|REF_RGD_ID:1601419 12160926 TBX3 T-box transcription factor 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1345948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21098263 12160926 TBX3 T-box transcription factor 3 gene DOID:9009007 Tooth Abnormalities ISO RGD:1345948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9207801 12160926 TBX3 T-box transcription factor 3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1345948 D RGD:9068941 20220224 RGD mRNA,protein:increased expression:colorectum (human) PMID:25628943|REF_RGD_ID:151361126 12160926 TBX3 T-box transcription factor 3 gene DOID:9970 obesity ISO RGD:1345948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:28492532 12160938 PLEKHM3 pleckstrin homology domain containing M3 gene DOID:14557 primary pulmonary hypertension ISO RGD:2292191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12160938 PLEKHM3 pleckstrin homology domain containing M3 gene DOID:630 genetic disease ISO RGD:2292191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160938 PLEKHM3 pleckstrin homology domain containing M3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2292191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12160952 IST1 IST1 factor associated with ESCRT-III gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12160952 IST1 IST1 factor associated with ESCRT-III gene DOID:630 genetic disease ISO RGD:1605407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160972 ANKRD54 ankyrin repeat domain 54 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1605877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12160972 ANKRD54 ankyrin repeat domain 54 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1605877 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12160972 ANKRD54 ankyrin repeat domain 54 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1605877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12160972 ANKRD54 ankyrin repeat domain 54 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1605877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12160972 ANKRD54 ankyrin repeat domain 54 gene DOID:630 genetic disease ISO RGD:1605877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12160988 CNGA3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:0050572 cone-rod dystrophy ISO RGD:733295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:11536077|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30289319 12160988 CNGA3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:0050795 cone dystrophy ISO RGD:733295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:18521937|PMID:25741868|PMID:26493561|PMID:28041643|PMID:28492532|PMID:30289319 12160988 CNGA3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:0110007 achromatopsia 2 IAGP D RGD:12801476 20210603 OMIA Achromatopsia-2, CNGA3-related PMID:26407004 12160988 CNGA3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:0110007 achromatopsia 2 ISO RGD:733295 D RGD:7240710 20180130 OMIM 12160988 CNGA3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:0110007 achromatopsia 2 ISO RGD:733295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Achromatopsia 2 | ClinVar Annotator: match by term: Rod monochromacy 2 PMID:11536077|PMID:14715947|PMID:14757870|PMID:15712225|PMID:15743887|PMID:15980212|PMID:16199547|PMID:16961972|PMID:17265047|PMID:17576681|PMID:17693388|PMID:18445228|PMID:18521937|PMID:20079539|PMID:20088482|PMID:20238023|PMID:20506298|PMID:20549516|PMID:21268679|PMID:21778272|PMID:21901789|PMID:21912902|PMID:22995991|PMID:23972307|PMID:24033266|PMID:24148654|PMID:24504161|PMID:24676353|PMID:24903488|PMID:24906859|PMID:25052312|PMID:25168900|PMID:25616768|PMID:25637600|PMID:25741868|PMID:25943428|PMID:26106334|PMID:26355662|PMID:26407004|PMID:26493561|PMID:26992781|PMID:27208204|PMID:27820752|PMID:28041643|PMID:28159970|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29053603|PMID:29099798|PMID:29165669|PMID:29618791|PMID:30289319|PMID:30337596|PMID:30653986|PMID:30682209|PMID:30711023|PMID:31456290|PMID:32783370|PMID:32913385|PMID:33546218|PMID:9536098|PMID:9662398 12160988 CNGA3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:13399 color blindness ISO RGD:733295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Color vision defect PMID:11536077|PMID:17693388|PMID:20238023|PMID:25741868|PMID:26992781|PMID:28492532 12160988 CNGA3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:13911 achromatopsia ISO RGD:733295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:11536077|PMID:14757870|PMID:15712225|PMID:16961972|PMID:17265047|PMID:17576681|PMID:17693388|PMID:18445228|PMID:18521937|PMID:20079539|PMID:20088482|PMID:20238023|PMID:20506298|PMID:20549516|PMID:21778272|PMID:22995991|PMID:23972307|PMID:24033266|PMID:24148654|PMID:24504161|PMID:24903488|PMID:25168900|PMID:25616768|PMID:25637600|PMID:25741868|PMID:25943428|PMID:26992781|PMID:27820752|PMID:28159970|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29053603|PMID:29618791|PMID:30418171|PMID:30653986|PMID:30682209|PMID:30711023|PMID:31456290|PMID:32913385|PMID:9536098|PMID:9662398 12160988 CNGA3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:4448 macular degeneration ISO RGD:733295 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:11536077|PMID:17693388|PMID:18445228|PMID:23972307|PMID:24033266|PMID:25741868|PMID:28341476|PMID:28492532|PMID:28559085|PMID:30653986|PMID:30682209 12160988 CNGA3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:630 genetic disease ISO RGD:733295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11536077|PMID:17265047|PMID:17693388|PMID:18521937|PMID:23972307|PMID:24033266|PMID:24504161|PMID:24903488|PMID:25616768|PMID:28492532|PMID:29618791|PMID:31456290|PMID:9662398 12160988 CNGA3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:8501 fundus dystrophy ISO RGD:733295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11536077|PMID:14757870|PMID:15712225|PMID:15743887|PMID:15980212|PMID:16961972|PMID:17265047|PMID:17693388|PMID:18445228|PMID:18521937|PMID:20088482|PMID:20238023|PMID:20506298|PMID:21268679|PMID:21778272|PMID:23972307|PMID:24033266|PMID:24148654|PMID:24504161|PMID:24676353|PMID:24903488|PMID:24906859|PMID:25168900|PMID:25283059|PMID:25616768|PMID:25637600|PMID:25741868|PMID:25943428|PMID:26407004|PMID:26493561|PMID:26992781|PMID:27208204|PMID:27820752|PMID:28041643|PMID:28159970|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29618791|PMID:30289319|PMID:30337596|PMID:30653986|PMID:30682209|PMID:30711023|PMID:31456290|PMID:33546218|PMID:9662398 12160988 CNGA3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:9003656 Achromatopsia 1 ISO RGD:733295 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:c.682G>A (p.E228K), c.1315C>T (p.R439W), c.1405G>A (p.A469T) (human) PMID:18521937|REF_RGD_ID:9068452 12160988 CNGA3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:9008296 Eye Abnormalities ISO RGD:733295 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:11536077|PMID:15743887|PMID:17693388|PMID:18445228|PMID:23972307|PMID:24033266|PMID:25741868|PMID:28041643|PMID:28341476|PMID:28492532|PMID:28559085|PMID:30653986|PMID:30682209 12161002 FKBP15 FKBP prolyl isomerase family member 15 gene DOID:303 substance-related disorder ISO RGD:1312480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12161002 FKBP15 FKBP prolyl isomerase family member 15 gene DOID:630 genetic disease ISO RGD:1312480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161002 FKBP15 FKBP prolyl isomerase family member 15 gene DOID:670 amphetamine abuse ISO RGD:1312480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12161048 SLC13A1 solute carrier family 13 member 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12161048 SLC13A1 solute carrier family 13 member 1 gene DOID:630 genetic disease ISO RGD:1346909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161073 ERI1 exoribonuclease 1 gene DOID:13938 amenorrhea ISO RGD:1605015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12161073 ERI1 exoribonuclease 1 gene DOID:630 genetic disease ISO RGD:1605015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161073 ERI1 exoribonuclease 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12161073 ERI1 exoribonuclease 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1605015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12161091 COG1 component of oligomeric golgi complex 1 gene DOID:0070259 congenital disorder of glycosylation type IIg ISO RGD:1312123 D RGD:7240710 20180130 OMIM 12161091 COG1 component of oligomeric golgi complex 1 gene DOID:0070259 congenital disorder of glycosylation type IIg ISO RGD:1312123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2G PMID:16199547|PMID:16537452|PMID:17576681|PMID:19008299|PMID:23757202|PMID:23806237|PMID:25741868|PMID:27112773|PMID:28492532|PMID:29127259|PMID:33960418|PMID:9536098 12161091 COG1 component of oligomeric golgi complex 1 gene DOID:10283 prostate cancer ISO RGD:1312123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12161091 COG1 component of oligomeric golgi complex 1 gene DOID:1184 nephrotic syndrome ISO RGD:1312123 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:19008299|PMID:25741868|PMID:29127259 12161091 COG1 component of oligomeric golgi complex 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1312123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 12161091 COG1 component of oligomeric golgi complex 1 gene DOID:630 genetic disease ISO RGD:1312123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12161091 COG1 component of oligomeric golgi complex 1 gene DOID:9006549 Enterovirus Infections ISO RGD:1312123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28446605 12161109 HIVEP2 HIVEP zinc finger 2 gene DOID:0060041 autism spectrum disorder ISO RGD:734342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12161109 HIVEP2 HIVEP zinc finger 2 gene DOID:0060812 syndromic X-linked intellectual disability Siderius type ISO RGD:734342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Siderius type PMID:25741868 12161109 HIVEP2 HIVEP zinc finger 2 gene DOID:0060825 Christianson syndrome ISO RGD:734342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome-like PMID:25741868 12161109 HIVEP2 HIVEP zinc finger 2 gene DOID:0070073 autosomal dominant intellectual developmental disorder 43 ISO RGD:734342 D RGD:7240710 20190315 OMIM 12161109 HIVEP2 HIVEP zinc finger 2 gene DOID:0070073 autosomal dominant intellectual developmental disorder 43 ISO RGD:734342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 43 PMID:23020937|PMID:24033266|PMID:25741868|PMID:26153216|PMID:27003583|PMID:28492532|PMID:29758562 12161109 HIVEP2 HIVEP zinc finger 2 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:734342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 PMID:25741868 12161109 HIVEP2 HIVEP zinc finger 2 gene DOID:1059 intellectual disability ISO RGD:734342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12161109 HIVEP2 HIVEP zinc finger 2 gene DOID:5419 schizophrenia ISO RGD:62280 D RGD:9068941 20220825 MouseDO OMIM:181500 12161109 HIVEP2 HIVEP zinc finger 2 gene DOID:630 genetic disease ISO RGD:734342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12527760|PMID:1567844|PMID:22294689|PMID:23020937|PMID:25741868|PMID:26153216|PMID:27003583|PMID:28492532 12161109 HIVEP2 HIVEP zinc finger 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 12161109 HIVEP2 HIVEP zinc finger 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:734342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12161123 IL17RD interleukin 17 receptor D gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1353408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25636053|PMID:25741868|PMID:28492532|PMID:32389901 12161123 IL17RD interleukin 17 receptor D gene DOID:0060857 septooptic dysplasia ISO RGD:1353408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:28492532|PMID:32796691 12161123 IL17RD interleukin 17 receptor D gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1353408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12161123 IL17RD interleukin 17 receptor D gene DOID:0090076 hypogonadotropic hypogonadism 18 with or without anosmia ISO RGD:1353408 D RGD:7240710 20180130 OMIM 12161123 IL17RD interleukin 17 receptor D gene DOID:0090076 hypogonadotropic hypogonadism 18 with or without anosmia ISO RGD:1353408 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 18 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 18 with or without anosmia PMID:23643382|PMID:25636053|PMID:25741868|PMID:28492532 12161123 IL17RD interleukin 17 receptor D gene DOID:1924 hypogonadism ISO RGD:1353408 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypogonadism PMID:25741868 12161123 IL17RD interleukin 17 receptor D gene DOID:630 genetic disease ISO RGD:1353408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161123 IL17RD interleukin 17 receptor D gene DOID:9000998 Brain Injuries ISO RGD:1353408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 12161123 IL17RD interleukin 17 receptor D gene DOID:9001239 Delayed Puberty ISO RGD:1353408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:23643382|PMID:25636053|PMID:25741868|PMID:28492532|PMID:32389901 12161123 IL17RD interleukin 17 receptor D gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16474841 12161123 IL17RD interleukin 17 receptor D gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1353408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 12161141 RAB20 RAB20, member RAS oncogene family gene DOID:0080600 COVID-19 ISO RGD:1315116 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12161141 RAB20 RAB20, member RAS oncogene family gene DOID:2222 factor X deficiency ISO RGD:1315116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12161141 RAB20 RAB20, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1315116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161141 RAB20 RAB20, member RAS oncogene family gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1315116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12161147 KNTC1 kinetochore associated 1 gene DOID:10283 prostate cancer ISO RGD:1317369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12161147 KNTC1 kinetochore associated 1 gene DOID:630 genetic disease ISO RGD:1317369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161223 LIMK2 LIM domain kinase 2 gene DOID:630 genetic disease ISO RGD:733238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161223 LIMK2 LIM domain kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733238 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12161246 CDC45 cell division cycle 45 gene DOID:0060041 autism spectrum disorder ISO RGD:1352573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12161246 CDC45 cell division cycle 45 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1352573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12161246 CDC45 cell division cycle 45 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1352573 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12161246 CDC45 cell division cycle 45 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1352573 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12161246 CDC45 cell division cycle 45 gene DOID:0080512 Meier-Gorlin syndrome 1 ISO RGD:1352573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 PMID:25741868|PMID:28492532|PMID:31474763 12161246 CDC45 cell division cycle 45 gene DOID:0080518 Meier-Gorlin syndrome 7 ISO RGD:1352573 D RGD:7240710 20190424 OMIM 12161246 CDC45 cell division cycle 45 gene DOID:0080518 Meier-Gorlin syndrome 7 ISO RGD:1352573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 7 PMID:25741868|PMID:27374770|PMID:28492532|PMID:29036220|PMID:30986546 12161246 CDC45 cell division cycle 45 gene DOID:0080600 COVID-19 ISO RGD:1352573 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12161246 CDC45 cell division cycle 45 gene DOID:0111996 immunodeficiency 51 ISO RGD:1352573 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12161246 CDC45 cell division cycle 45 gene DOID:1059 intellectual disability ISO RGD:1352573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12161246 CDC45 cell division cycle 45 gene DOID:10907 microcephaly ISO RGD:1352573 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12161246 CDC45 cell division cycle 45 gene DOID:11198 DiGeorge syndrome ISO RGD:1352573 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12161246 CDC45 cell division cycle 45 gene DOID:11372 megacolon ISO RGD:1352573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12161246 CDC45 cell division cycle 45 gene DOID:12583 velocardiofacial syndrome ISO RGD:1352573 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12161246 CDC45 cell division cycle 45 gene DOID:12849 autistic disorder ISO RGD:1352573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12161246 CDC45 cell division cycle 45 gene DOID:1826 epilepsy ISO RGD:1352573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12161246 CDC45 cell division cycle 45 gene DOID:5419 schizophrenia ISO RGD:1352573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12161246 CDC45 cell division cycle 45 gene DOID:612 primary immunodeficiency disease ISO RGD:1352573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12161246 CDC45 cell division cycle 45 gene DOID:630 genetic disease ISO RGD:1352573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 12161246 CDC45 cell division cycle 45 gene DOID:684 hepatocellular carcinoma ISO RGD:1352573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12161246 CDC45 cell division cycle 45 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12161246 CDC45 cell division cycle 45 gene DOID:9007661 Dwarfism ISO RGD:1352573 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12161246 CDC45 cell division cycle 45 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1352573 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12161270 FZD8 frizzled class receptor 8 gene DOID:630 genetic disease ISO RGD:1350514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161270 FZD8 frizzled class receptor 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350514 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12161276 LRRK1 leucine rich repeat kinase 1 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1317516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 12161276 LRRK1 leucine rich repeat kinase 1 gene DOID:0081111 osteosclerotic metaphyseal dysplasia ISO RGD:1317516 D RGD:7240710 20211222 OMIM 12161276 LRRK1 leucine rich repeat kinase 1 gene DOID:0081111 osteosclerotic metaphyseal dysplasia ISO RGD:1317516 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteosclerotic metaphyseal dysplasia PMID:25741868|PMID:27055475|PMID:27829680|PMID:28492532|PMID:31571209|PMID:32119750|PMID:8255649 12161276 LRRK1 leucine rich repeat kinase 1 gene DOID:13533 osteopetrosis ISO RGD:1317517 D RGD:9068941 20220825 MouseDO 12161276 LRRK1 leucine rich repeat kinase 1 gene DOID:630 genetic disease ISO RGD:1317516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12161276 LRRK1 leucine rich repeat kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12161331 TLCD5 TLC domain containing 5 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1603164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12161331 TLCD5 TLC domain containing 5 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1603164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12161331 TLCD5 TLC domain containing 5 gene DOID:0080690 RASopathy ISO RGD:1603164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12161331 TLCD5 TLC domain containing 5 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1603164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12161331 TLCD5 TLC domain containing 5 gene DOID:0111971 immunodeficiency 18 ISO RGD:1603164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12161331 TLCD5 TLC domain containing 5 gene DOID:0111972 immunodeficiency 19 ISO RGD:1603164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12161331 TLCD5 TLC domain containing 5 gene DOID:0111973 immunodeficiency 17 ISO RGD:1603164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12161331 TLCD5 TLC domain containing 5 gene DOID:13641 exfoliation syndrome ISO RGD:1603164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28553957 12161331 TLCD5 TLC domain containing 5 gene DOID:5419 schizophrenia ISO RGD:1603164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12161331 TLCD5 TLC domain containing 5 gene DOID:630 genetic disease ISO RGD:1603164 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161331 TLCD5 TLC domain containing 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12161331 TLCD5 TLC domain containing 5 gene DOID:9007661 Dwarfism ISO RGD:1603164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12161345 CDC27 cell division cycle 27 gene DOID:10485 esophageal atresia ISO RGD:1312639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12161345 CDC27 cell division cycle 27 gene DOID:1324 lung cancer ISO RGD:1312639 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12161345 CDC27 cell division cycle 27 gene DOID:5409 lung small cell carcinoma ISO RGD:1312639 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 12161345 CDC27 cell division cycle 27 gene DOID:684 hepatocellular carcinoma ISO RGD:1312639 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 12161345 CDC27 cell division cycle 27 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12161345 CDC27 cell division cycle 27 gene DOID:9007098 Pulmonary Atresia ISO RGD:1312639 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 12161385 VSIG4 V-set and immunoglobulin domain containing 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12161385 VSIG4 V-set and immunoglobulin domain containing 4 gene DOID:0080600 COVID-19 ISO RGD:1354021 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12161385 VSIG4 V-set and immunoglobulin domain containing 4 gene DOID:12849 autistic disorder ISO RGD:1354021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12161385 VSIG4 V-set and immunoglobulin domain containing 4 gene DOID:2986 IgA glomerulonephritis ISO RGD:1354021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 12161385 VSIG4 V-set and immunoglobulin domain containing 4 gene DOID:630 genetic disease ISO RGD:1354021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161385 VSIG4 V-set and immunoglobulin domain containing 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1354021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12161385 VSIG4 V-set and immunoglobulin domain containing 4 gene DOID:9119 acute myeloid leukemia ISO RGD:1354021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 12161403 TEX13B testis expressed 13B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12161403 TEX13B testis expressed 13B gene DOID:12849 autistic disorder ISO RGD:1352852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12161403 TEX13B testis expressed 13B gene DOID:630 genetic disease ISO RGD:1352852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161416 NEMP2 nuclear envelope integral membrane protein 2 gene DOID:0111944 immunodeficiency 31B ISO RGD:2293905 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 12161416 NEMP2 nuclear envelope integral membrane protein 2 gene DOID:630 genetic disease ISO RGD:2293905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161416 NEMP2 nuclear envelope integral membrane protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2293905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12161432 DLA-DMB major histocompatibility complex, class II, DM beta gene DOID:0050553 JMP syndrome ISO RGD:1346716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12161432 DLA-DMB major histocompatibility complex, class II, DM beta gene DOID:13241 Behcet's disease no_association ISO RGD:1346716 D RGD:9068941 20210730 RGD PMID:10375868|REF_RGD_ID:1582700 12161432 DLA-DMB major histocompatibility complex, class II, DM beta gene DOID:2773 contact dermatitis ISO RGD:1346716 D RGD:9068941 20210730 CTD CTD Direct Evidence: marker/mechanism PMID:18348411 12161432 DLA-DMB major histocompatibility complex, class II, DM beta gene DOID:4404 occupational dermatitis ISO RGD:1346716 D RGD:9068941 20210730 CTD CTD Direct Evidence: marker/mechanism PMID:16737583 12161442 CALD1 caldesmon 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:730856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12161442 CALD1 caldesmon 1 gene DOID:630 genetic disease ISO RGD:730856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161442 CALD1 caldesmon 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:730856 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12161442 CALD1 caldesmon 1 gene DOID:7148 rheumatoid arthritis ISO RGD:730856 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292528 12161442 CALD1 caldesmon 1 gene DOID:9000955 Acute Otitis Media ISO RGD:8921357 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:mucosa of middle ear PMID:26711468|REF_RGD_ID:11553828 12161442 CALD1 caldesmon 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2256 D RGD:9068941 20200609 RGD PMID:10644879|REF_RGD_ID:2314036 12161479 RASSF3 Ras association domain family member 3 gene DOID:630 genetic disease ISO RGD:1322918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161479 RASSF3 Ras association domain family member 3 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1322918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12161489 FBLIM1 filamin binding LIM protein 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606792 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12161489 FBLIM1 filamin binding LIM protein 1 gene DOID:630 genetic disease ISO RGD:1606792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161503 DYNAP dynactin associated protein gene DOID:1059 intellectual disability ISO RGD:1344523 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12161503 DYNAP dynactin associated protein gene DOID:630 genetic disease ISO RGD:1344523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161514 BBC3 BCL2 binding component 3 gene DOID:224 transient cerebral ischemia ISO RGD:631434 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus CA1, pyramidal cell PMID:12913114|REF_RGD_ID:634629 12161514 BBC3 BCL2 binding component 3 gene DOID:2316 brain ischemia ISO RGD:735389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19095966 12161514 BBC3 BCL2 binding component 3 gene DOID:3669 intermittent claudication ISO RGD:631434 D RGD:9068941 20200609 RGD PMID:23658678|REF_RGD_ID:9586024 12161514 BBC3 BCL2 binding component 3 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:735389 D RGD:9068941 20210903 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 12161514 BBC3 BCL2 binding component 3 gene DOID:630 genetic disease ISO RGD:735389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161514 BBC3 BCL2 binding component 3 gene DOID:8584 Burkitt lymphoma ISO RGD:735389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18573879 12161514 BBC3 BCL2 binding component 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:735389 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16481741 12161514 BBC3 BCL2 binding component 3 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:735389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 12161534 C4H5orf34 chromosome 4 C5orf34 homolog gene DOID:630 genetic disease ISO RGD:1601916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161534 C4H5orf34 chromosome 4 C5orf34 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12161562 DEFB132 defensin beta 132 gene DOID:630 genetic disease ISO RGD:1605783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161562 DEFB132 defensin beta 132 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12161570 LYPD4 LY6/PLAUR domain containing 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12161570 LYPD4 LY6/PLAUR domain containing 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1602183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12161570 LYPD4 LY6/PLAUR domain containing 4 gene DOID:2340 craniosynostosis ISO RGD:1602183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12161570 LYPD4 LY6/PLAUR domain containing 4 gene DOID:5419 schizophrenia ISO RGD:1602183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12161570 LYPD4 LY6/PLAUR domain containing 4 gene DOID:630 genetic disease ISO RGD:1602183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161570 LYPD4 LY6/PLAUR domain containing 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1602183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12161570 LYPD4 LY6/PLAUR domain containing 4 gene DOID:9269 maple syrup urine disease ISO RGD:1602183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12161594 SLC35G1 solute carrier family 35 member G1 gene DOID:10283 prostate cancer ISO RGD:1354059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12161594 SLC35G1 solute carrier family 35 member G1 gene DOID:630 genetic disease ISO RGD:1354059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161603 DLX2 distal-less homeobox 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1312529 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12161603 DLX2 distal-less homeobox 2 gene DOID:12849 autistic disorder ISO RGD:1312529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18728693 12161603 DLX2 distal-less homeobox 2 gene DOID:630 genetic disease ISO RGD:1312529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161603 DLX2 distal-less homeobox 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1312529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9187081 12161610 MIR367 microRNA mir-367 gene DOID:12271 aniridia ISO RGD:1343543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 12161610 MIR367 microRNA mir-367 gene DOID:9004307 Alazami Syndrome ISO RGD:1343543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alazami syndrome PMID:25741868 12161610 MIR367 microRNA mir-367 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1343543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12161648 LOC102155800 60S ribosomal protein L36a-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1315369 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12161648 LOC102155800 60S ribosomal protein L36a-like gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1315369 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 12161648 LOC102155800 60S ribosomal protein L36a-like gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1315369 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 12161648 LOC102155800 60S ribosomal protein L36a-like gene DOID:12849 autistic disorder ISO RGD:1315369 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12161648 LOC102155800 60S ribosomal protein L36a-like gene DOID:14499 Fabry disease ISO RGD:1315369 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:10666480|PMID:12175777|PMID:28492532 12161648 LOC102155800 60S ribosomal protein L36a-like gene DOID:3910 lung adenocarcinoma ISO RGD:1315369 D RGD:9068941 20230330 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12161648 LOC102155800 60S ribosomal protein L36a-like gene DOID:9006205 Animal Disease Models ISO RGD:1315369 D RGD:9068941 20230330 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12161648 LOC102155800 60S ribosomal protein L36a-like gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1315369 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:0050127 sinusitis ISO RGD:1353278 D RGD:9068941 20200609 RGD PMID:19786211|REF_RGD_ID:5130914 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1353278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:24088041|PMID:26633545 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:0080600 COVID-19 ISO RGD:1353278 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:0080600 COVID-19 ISO RGD:1353278 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:0080600 COVID-19 ISO RGD:1353278 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:0080600 COVID-19 severity ISO RGD:1353278 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|PMID:32360286|REF_RGD_ID:30309209|REF_RGD_ID:30309212 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:0080855 Parkinsonism ISO RGD:1550761 D RGD:9068941 20200609 RGD PMID:17258864|REF_RGD_ID:5683893 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:10140 dry eye syndrome ISO RGD:1353278 D RGD:9068941 20200609 RGD PMID:20575639|REF_RGD_ID:5130907 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:10533 viral pneumonia ISO RGD:1353278 D RGD:9068941 20200609 RGD PMID:20957032|REF_RGD_ID:5130904 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:10533 viral pneumonia ISO RGD:1353278 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:10690 mastitis ISO RGD:1353278 D RGD:9068941 20200609 RGD associated with HIV Infections PMID:16250882|REF_RGD_ID:5683897 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:1205 allergic disease ISO RGD:1353278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15585374|PMID:21625544 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1353278 D RGD:9068941 20200609 RGD PMID:19046553|REF_RGD_ID:4143497 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1550761 D RGD:9068941 20200609 RGD PMID:16988274|REF_RGD_ID:4892091 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:14067 Plasmodium falciparum malaria ISO RGD:1353278 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:blood, PMID:15972509|REF_RGD_ID:5683898 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:1485 cystic fibrosis ISO RGD:1353278 D RGD:9068941 20200609 RGD PMID:19386685|PMID:20575639|REF_RGD_ID:5130902|REF_RGD_ID:5130907 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:1824 status epilepticus ISO RGD:620441 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:21731074|REF_RGD_ID:5683875 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:1936 atherosclerosis ISO RGD:1353278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24370436 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:2043 hepatitis B ISO RGD:1353278 D RGD:9068941 20200609 RGD PMID:21914058|REF_RGD_ID:5683873 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:2316 brain ischemia ISO RGD:1353278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:2841 asthma ISO RGD:1353278 D RGD:9068941 20200609 RGD PMID:18774390|REF_RGD_ID:5130915 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:2921 glomerulonephritis ISO RGD:1353278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10385480 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1353278 D RGD:9068941 20200609 RGD PMID:11475557|PMID:17868461|REF_RGD_ID:5130900|REF_RGD_ID:5130901 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:37 skin disease ISO RGD:1353278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:3770 pulmonary fibrosis ISO RGD:1353278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17720292 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:399 tuberculosis severity ISO RGD:1353278 D RGD:9068941 20210129 RGD associated with human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human) PMID:31276515|REF_RGD_ID:41404639 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:399 tuberculosis severity ISO RGD:1550761 D RGD:9068941 20210129 RGD associated with human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human) PMID:31276515|REF_RGD_ID:41404639 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:399 tuberculosis severity ISO RGD:620441 D RGD:9068941 20210129 RGD associated with human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human) PMID:31276515|REF_RGD_ID:41404639 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:417 autoimmune disease ISO RGD:1353278 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21169727|REF_RGD_ID:5683913 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:418 systemic scleroderma ISO RGD:1353278 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21285114|REF_RGD_ID:5683876 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:4483 rhinitis ISO RGD:1353278 D RGD:9068941 20200609 RGD PMID:19786211|REF_RGD_ID:5130914 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:620441 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:17898087|REF_RGD_ID:2307059 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:1353278 D RGD:9068941 20200609 RGD PMID:16250882|REF_RGD_ID:5683897 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:552 pneumonia ISO RGD:1353278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:552 pneumonia ISO RGD:1353278 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:630 genetic disease ISO RGD:1353278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1353278 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:rs1719153 (human) PMID:16773571|REF_RGD_ID:5683896 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:813 septic arthritis ISO RGD:1353278 D RGD:9068941 20200609 RGD PMID:17393419|REF_RGD_ID:5683892 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:874 bacterial pneumonia ISO RGD:1550761 D RGD:9068941 20200609 RGD PMID:20483921|REF_RGD_ID:5130905 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:9000310 Lung Injury ISO RGD:1353278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19762220 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:9000386 Polyomavirus Infections ISO RGD:1353278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:9001542 Albuminuria ISO RGD:1353278 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:urine PMID:21113841|REF_RGD_ID:5683918 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1550761 D RGD:9068941 20200609 RGD PMID:21273392|REF_RGD_ID:5683877 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:9002953 Escherichia Coli Infections ISO RGD:620441 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:16238536|REF_RGD_ID:5683919 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:9004484 Sepsis severity ISO RGD:1353278 D RGD:9068941 20200609 RGD PMID:21208283|REF_RGD_ID:5683911 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:9004590 Acute Liver Failure ISO RGD:1353278 D RGD:9068941 20200609 RGD protein, mRNA:increased expression:serum, liver PMID:12579535|REF_RGD_ID:14995451 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:9004610 Acute Lung Injury ISO RGD:1550761 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:21906407|REF_RGD_ID:5683874 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:9004610 Acute Lung Injury ISO RGD:620441 D RGD:9068941 20200609 RGD PMID:10679105|REF_RGD_ID:68880 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:9004610 Acute Lung Injury ISO RGD:620441 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:21767135|REF_RGD_ID:6480432 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:9005372 Inflammation ISO RGD:1353278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19762220 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1353278 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:9007102 Myocardial Ischemia ISO RGD:1353278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:9007964 Arsenic Poisoning ISO RGD:1353278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:9008 psoriatic arthritis ISO RGD:1353278 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16936328|REF_RGD_ID:5683894 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:9074 systemic lupus erythematosus disease_progression ISO RGD:1353278 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16924394|REF_RGD_ID:5683895 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:9146 visceral leishmaniasis ISO RGD:1353278 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21991751|REF_RGD_ID:5683905 12161695 CCL4 chemokine (C-C motif) ligand 4 gene DOID:9970 obesity ISO RGD:620441 D RGD:9068941 20200609 RGD PMID:21862610|REF_RGD_ID:5683906 12161700 LMAN1 lectin, mannose binding 1 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:732234 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 12161700 LMAN1 lectin, mannose binding 1 gene DOID:0111988 immunodeficiency 12 ISO RGD:732234 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 12161700 LMAN1 lectin, mannose binding 1 gene DOID:2211 factor XIII deficiency ISO RGD:732234 D RGD:9068941 20200609 RGD F5F8D, OMIM:227300 PMID:9546392|REF_RGD_ID:1600100 12161700 LMAN1 lectin, mannose binding 1 gene DOID:2216 factor V deficiency ISO RGD:732234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor V deficiency PMID:25741868 12161700 LMAN1 lectin, mannose binding 1 gene DOID:630 genetic disease ISO RGD:732234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161700 LMAN1 lectin, mannose binding 1 gene DOID:9000717 Familial Multiple Coagulation Factor Deficiency I ISO RGD:732234 D RGD:7240710 20180130 OMIM 12161700 LMAN1 lectin, mannose binding 1 gene DOID:9000717 Familial Multiple Coagulation Factor Deficiency I ISO RGD:732234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FMFD I PMID:18391077|PMID:25741868|PMID:31064749|PMID:9045860|PMID:9546392 12161722 MRAS muscle RAS oncogene homolog gene DOID:0080690 RASopathy ISO RGD:733433 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: RASopathy PMID:25741868|PMID:28289718|PMID:30348783|PMID:31108500|PMID:31638832 12161722 MRAS muscle RAS oncogene homolog gene DOID:0112169 Noonan syndrome 11 ISO RGD:733433 D RGD:7240710 20190731 OMIM 12161722 MRAS muscle RAS oncogene homolog gene DOID:0112169 Noonan syndrome 11 ISO RGD:733433 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Noonan syndrome 11 PMID:25252692|PMID:25741868|PMID:28289718|PMID:28492532|PMID:30348783|PMID:31108500|PMID:31173466|PMID:31638832 12161722 MRAS muscle RAS oncogene homolog gene DOID:3393 coronary artery disease ISO RGD:733433 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:21378990|PMID:35590109 12161722 MRAS muscle RAS oncogene homolog gene DOID:3407 carotid artery disease ISO RGD:733433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198612 12161722 MRAS muscle RAS oncogene homolog gene DOID:630 genetic disease ISO RGD:733433 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28289718|PMID:28492532 12161722 MRAS muscle RAS oncogene homolog gene DOID:9000528 Coronary Disease ISO RGD:733433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 12161722 MRAS muscle RAS oncogene homolog gene DOID:9352 type 2 diabetes mellitus ISO RGD:733433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 12161732 XRN1 5'-3' exoribonuclease 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1348971 D RGD:9068941 20200609 RGD DNA:snp:intron:c.1883+365T>C (rs1351965) (human) PMID:22984654|REF_RGD_ID:11528589 12161732 XRN1 5'-3' exoribonuclease 1 gene DOID:630 genetic disease ISO RGD:1348971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161732 XRN1 5'-3' exoribonuclease 1 gene DOID:9008885 Staphylococcal Infections susceptibility ISO RGD:1348971 D RGD:9068941 20200609 RGD DNA:snp:intron:c.2339+1477G>A (rs7643377) (human) PMID:24847357|REF_RGD_ID:11530009 12161796 BUB3 BUB3 mitotic checkpoint protein gene DOID:630 genetic disease ISO RGD:1315390 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12161796 BUB3 BUB3 mitotic checkpoint protein gene DOID:9002644 Premature Aging ISO RGD:1315391 D RGD:9068941 20200609 RGD PMID:16476774|REF_RGD_ID:10059413 12161810 PIAS2 protein inhibitor of activated STAT 2 gene DOID:0060356 Vici syndrome ISO RGD:1603704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 12161810 PIAS2 protein inhibitor of activated STAT 2 gene DOID:1059 intellectual disability ISO RGD:1603704 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12161810 PIAS2 protein inhibitor of activated STAT 2 gene DOID:630 genetic disease ISO RGD:1603704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161810 PIAS2 protein inhibitor of activated STAT 2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1603704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 12161856 PRAF2 PRA1 domain family member 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1350856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early onset epileptic encephalopathy PMID:26173968 12161856 PRAF2 PRA1 domain family member 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12161856 PRAF2 PRA1 domain family member 2 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1350856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12161856 PRAF2 PRA1 domain family member 2 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1350856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12161856 PRAF2 PRA1 domain family member 2 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1350856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12161856 PRAF2 PRA1 domain family member 2 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1350856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12161856 PRAF2 PRA1 domain family member 2 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1350856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12161856 PRAF2 PRA1 domain family member 2 gene DOID:12849 autistic disorder ISO RGD:1350856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12161856 PRAF2 PRA1 domain family member 2 gene DOID:630 genetic disease ISO RGD:1350856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161856 PRAF2 PRA1 domain family member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350856 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12161863 LOC482938 zinc finger protein 705A gene DOID:630 genetic disease ISO RGD:2311724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161881 PAK3 p21 (RAC1) activated kinase 3 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:731864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 12161881 PAK3 p21 (RAC1) activated kinase 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12161881 PAK3 p21 (RAC1) activated kinase 3 gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:731864 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 PMID:28492532 12161881 PAK3 p21 (RAC1) activated kinase 3 gene DOID:0112051 non-syndromic X-linked intellectual disability 30 ISO RGD:731864 D RGD:7240710 20180130 OMIM 12161881 PAK3 p21 (RAC1) activated kinase 3 gene DOID:0112051 non-syndromic X-linked intellectual disability 30 ISO RGD:731864 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 30 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 47 PMID:10946356|PMID:12884430|PMID:17853471|PMID:18523455|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31843706|PMID:32050918|PMID:8826460|PMID:9332663|PMID:9731525 12161881 PAK3 p21 (RAC1) activated kinase 3 gene DOID:1059 intellectual disability ISO RGD:731864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18523455|PMID:25741868 12161881 PAK3 p21 (RAC1) activated kinase 3 gene DOID:10907 microcephaly ISO RGD:731864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 12161881 PAK3 p21 (RAC1) activated kinase 3 gene DOID:12849 autistic disorder ISO RGD:731864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12161881 PAK3 p21 (RAC1) activated kinase 3 gene DOID:5419 schizophrenia ISO RGD:731864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12161881 PAK3 p21 (RAC1) activated kinase 3 gene DOID:630 genetic disease ISO RGD:731864 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24556213|PMID:25741868|PMID:26467025|PMID:28492532 12161881 PAK3 p21 (RAC1) activated kinase 3 gene DOID:8466 retinal degeneration ISO RGD:736155 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina PMID:16505058|REF_RGD_ID:7775028 12161936 ENDOV endonuclease V gene DOID:630 genetic disease ISO RGD:1602281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161936 ENDOV endonuclease V gene DOID:9007536 Moyamoya Disease 2 ISO RGD:1602281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Moyamoya disease 2 12161950 NXT2 nuclear transport factor 2 like export factor 2 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1350653 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 12161950 NXT2 nuclear transport factor 2 like export factor 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12161950 NXT2 nuclear transport factor 2 like export factor 2 gene DOID:12849 autistic disorder ISO RGD:1350653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12161950 NXT2 nuclear transport factor 2 like export factor 2 gene DOID:630 genetic disease ISO RGD:1350653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12161971 MIR19A microRNA mir-19a gene DOID:0110878 holoprosencephaly 5 ISO RGD:1347994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 12161971 MIR19A microRNA mir-19a gene DOID:11394 adult respiratory distress syndrome ISO RGD:1347994 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12161971 MIR19A microRNA mir-19a gene DOID:3525 middle cerebral artery infarction ISO RGD:1608165 D RGD:9068941 20230311 RGD RNA:decreased expression:brain (mouse) PMID:32335212|REF_RGD_ID:156451661 12161971 MIR19A microRNA mir-19a gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:1347994 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 12161971 MIR19A microRNA mir-19a gene DOID:6000 congestive heart failure ISO RGD:1347994 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12161971 MIR19A microRNA mir-19a gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347994 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 12161971 MIR19A microRNA mir-19a gene DOID:9003036 Oral Lichen Planus ISO RGD:1347994 D RGD:9068941 20200609 RGD PMID:29813046|REF_RGD_ID:21081545 12161971 MIR19A microRNA mir-19a gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347994 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12161971 MIR19A microRNA mir-19a gene DOID:9256 colorectal cancer ISO RGD:1347994 D RGD:9068941 20220722 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12161971 MIR19A microRNA mir-19a gene DOID:9538 multiple myeloma ISO RGD:1347994 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29687521 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:10973849|PMID:11222472|PMID:12354768|PMID:12820704|PMID:14523039|PMID:15466642|PMID:15840476|PMID:15840483|PMID:15851227|PMID:16325048|PMID:16414944|PMID:16540748|PMID:17161064|PMID:17210839|PMID:18071069|PMID:18361072|PMID:18452873|PMID:19412328|PMID:19841300|PMID:20129283|PMID:20403459|PMID:20539757|PMID:20875080|PMID:22373669|PMID:22378279|PMID:22557970|PMID:22581653|PMID:23008441|PMID:23098067|PMID:23503384|PMID:23631430|PMID:23805106|PMID:23861362|PMID:24033266|PMID:24653702|PMID:25163546|PMID:25351510|PMID:25741868|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26066609|PMID:26159999|PMID:26209461|PMID:26467025|PMID:26633542|PMID:26749013|PMID:27041150|PMID:27287068|PMID:28069705|PMID:28265756|PMID:28492532|PMID:28600387|PMID:28781330|PMID:29032884|PMID:29574140|PMID:30084490|PMID:31333075|PMID:31568572|PMID:31737537|PMID:32048431|PMID:32323320|PMID:33535892|PMID:34755423 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:731255 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28449774|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28611029|PMID:28637969|PMID:28638671|PMID:28701297|PMID:28704380|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29016939|PMID:29032884|PMID:29121719|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29402340|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29652902|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29915097|PMID:29997009|PMID:29998127|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30244407|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30371189|PMID:30385166|PMID:30419068|PMID:30453078|PMID:30476647|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30758498|PMID:30828344|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31130284|PMID:31191357|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31397097|PMID:31447099|PMID:31453232|PMID:31477192|PMID:31568572|PMID:31680123|PMID:31694554|PMID:31737537|PMID:31751991|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32013205|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32153684|PMID:32161207|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32659924|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33131149|PMID:33164571|PMID:33221895|PMID:33535892|PMID:33712541|PMID:34008892|PMID:35535697|PMID:3953067|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8661019|PMID:8917568|PMID:8972392|PMID:9495298|PMID:9506831|PMID:9521325|PMID:9536098|PMID:9686753 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:10200053|PMID:10377081|PMID:10448858|PMID:10471492|PMID:10508990|PMID:10532948|PMID:10618304|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10758053|PMID:10772658|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11150514|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11417215|PMID:11420310|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11748104|PMID:11786529|PMID:11804990|PMID:11807557|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12574983|PMID:12598077|PMID:12639704|PMID:12650885|PMID:12673799|PMID:12693506|PMID:12695286|PMID:12741714|PMID:12820704|PMID:12845244|PMID:12877697|PMID:12898257|PMID:14500339|PMID:14523039|PMID:14607451|PMID:14625171|PMID:14654377|PMID:14676229|PMID:14687250|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14990510|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15047701|PMID:15051636|PMID:15057319|PMID:15120823|PMID:15121794|PMID:15136511|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15184283|PMID:15266024|PMID:15277732|PMID:15338453|PMID:15466642|PMID:15466643|PMID:15485686|PMID:15520322|PMID:15556047|PMID:15579534|PMID:15599693|PMID:15621041|PMID:15670972|PMID:15671429|PMID:15689442|PMID:15828879|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851320|PMID:15851440|PMID:15877619|PMID:15890323|PMID:15910881|PMID:15992732|PMID:15996170|PMID:15998675|PMID:15998690|PMID:16038262|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16188595|PMID:16199547|PMID:16239976|PMID:16254012|PMID:16266370|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16426410|PMID:16453014|PMID:16453024|PMID:16521247|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16616735|PMID:16643399|PMID:16684018|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16764707|PMID:16864729|PMID:16922724|PMID:16945804|PMID:16980337|PMID:17075016|PMID:17081365|PMID:17088455|PMID:17118339|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17198989|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17404158|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17445919|PMID:17504259|PMID:17512504|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17697823|PMID:17698727|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18065446|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18252757|PMID:18304999|PMID:18341814|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18375968|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18465145|PMID:18503232|PMID:18508782|PMID:18551308|PMID:18596570|PMID:18599870|PMID:18616619|PMID:18697752|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18809926|PMID:18848812|PMID:18849657|PMID:18929244|PMID:18929331|PMID:18976777|PMID:18984535|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19029124|PMID:19056759|PMID:19075524|PMID:19083750|PMID:19167345|PMID:19167409|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19336922|PMID:19406494|PMID:19411664|PMID:19412328|PMID:19561025|PMID:19564561|PMID:19597050|PMID:19606473|PMID:19632629|PMID:19648062|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19808398|PMID:19808440|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19863579|PMID:19957170|PMID:19996378|PMID:20022821|PMID:20025708|PMID:20031634|PMID:20090423|PMID:20102864|PMID:20102920|PMID:20110800|PMID:20123697|PMID:2012928|PMID:20129283|PMID:20137763|PMID:20339501|PMID:20345624|PMID:20381179|PMID:20384651|PMID:20395683 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20564468|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20728579|PMID:20812931|PMID:20875080|PMID:20877689|PMID:20960617|PMID:20960618|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21076026|PMID:21109022|PMID:21126620|PMID:21135007|PMID:21143119|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21193062|PMID:21273195|PMID:21288276|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21410720|PMID:21483645|PMID:21498565|PMID:21552533|PMID:21566136|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:21895525|PMID:21908450|PMID:21911102|PMID:22028457|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22247482|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22370247|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22407026|PMID:22426227|PMID:2247482|PMID:22490985|PMID:22519808|PMID:22529811|PMID:22557970|PMID:22581653|PMID:22675453|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22705208|PMID:22710484|PMID:22717692|PMID:22721569|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22795782|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22936642|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23085483|PMID:23091201|PMID:23098067|PMID:23105938|PMID:23139254|PMID:23158531|PMID:23168001|PMID:23174487|PMID:23200271|PMID:23237912|PMID:23276942|PMID:23283979|PMID:23293604|PMID:23299917|PMID:23321620|PMID:23376825|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23425522|PMID:23465283|PMID:23503384|PMID:23538271|PMID:23571586|PMID:23612926|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23785128|PMID:23791817|PMID:2380016|PMID:23805106|PMID:23818691|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:23998552|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24077912|PMID:24136861|PMID:24144883|PMID:24167619|PMID:24190697|PMID:24218437|PMID:24223155|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:24363796|PMID:24365614|PMID:2437023|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24573764|PMID:24581105|PMID:24582607|PMID:24596401|PMID:24599044|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24768612|PMID:24775617|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24895455|PMID:24915601|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24972929|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25119684|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210054|PMID:25210526|PMID:25261036|PMID:25326637|PMID:25344691|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25460174|PMID:25467552|PMID:25481746|PMID:25525159|PMID:25554238|PMID:25616976|PMID:25624448|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25748040|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26036855|PMID:26066609|PMID:26071830|PMID:26111534|PMID:26125038|PMID:26129877|PMID:26131924|PMID:26132555|PMID:26136871|PMID:26150789|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26220970|PMID:26282245|PMID:26283144|PMID:26304136|PMID:26304620|PMID:26332594|PMID:26383716|PMID:26392562|PMID:26406308|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26656175|PMID:26669661|PMID:26680202|PMID:26713557|PMID:26724572|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26801742|PMID:26803770|PMID:26820365|PMID:26822237|PMID:26828384 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:26884609|PMID:26888838|PMID:26916278|PMID:26941339|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27108952|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27281089|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27784737|PMID:27810048|PMID:27816319|PMID:27834932|PMID:27871843|PMID:27896284|PMID:27930354|PMID:27930701|PMID:28018021|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28104484|PMID:28127136|PMID:28146213|PMID:28150151|PMID:28166811|PMID:28183570|PMID:28202948|PMID:28262340|PMID:28265756|PMID:28301460|PMID:28316956|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28344931|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28611029|PMID:28637969|PMID:28638671|PMID:28701297|PMID:28704380|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29016939|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29121719|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29309564|PMID:29325976|PMID:29331327|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29402340|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29572929|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29652902|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29766885|PMID:29773157|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29915097|PMID:29956481|PMID:29961767|PMID:29997009|PMID:29998127|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30218094|PMID:30228971|PMID:30244407|PMID:30246897|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30371189|PMID:30385166|PMID:30403391|PMID:30419068|PMID:30453078|PMID:30476647|PMID:30497561|PMID:30532816|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30670673|PMID:30690642|PMID:30755392|PMID:30758498|PMID:30775854|PMID:30828344|PMID:30828412|PMID:30847666|PMID:30935997|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31020160|PMID:31032819|PMID:31043699|PMID:31130284|PMID:31191357|PMID:31231243|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31397097|PMID:31447099|PMID:31453232|PMID:31470130|PMID:31477192|PMID:31501239|PMID:31514951|PMID:31522937|PMID:31534214|PMID:31535183|PMID:31568572|PMID:31590245|PMID:31610692|PMID:31614475|PMID:31638414|PMID:31680123|PMID:31694554|PMID:31696929|PMID:31737537|PMID:31751991|PMID:31776209|PMID:31866066|PMID:31900993|PMID:31901299|PMID:31918855|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32013205|PMID:32048431|PMID:32055599|PMID:32091595|PMID:32096284|PMID:32145446|PMID:32153684|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32371921|PMID:32383558|PMID:32389048|PMID:32431610|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32508047|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32619740|PMID:32659924|PMID:32746448|PMID:32789579|PMID:32850980|PMID:32880476|PMID:32893267|PMID:32931854|PMID:33071830|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33164571|PMID:33213388|PMID:33221895|PMID:33232181|PMID:33258288|PMID:33338828|PMID:33463855|PMID:33500567|PMID:33535892|PMID:33712541|PMID:33764691|PMID:33789662|PMID:34008892|PMID:34019817|PMID:34021086|PMID:34048814|PMID:34092119|PMID:34122134|PMID:34127479|PMID:34135346 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:34219138|PMID:34302607|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34539730|PMID:34620408|PMID:34755423|PMID:34758253|PMID:34930020|PMID:34935411|PMID:35052356|PMID:35284542|PMID:35535697|PMID:35663620|PMID:36129056|PMID:36197721|PMID:36220970|PMID:3953067|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8661019|PMID:8663992|PMID:8917568|PMID:8972392|PMID:9495298|PMID:9506831|PMID:9521325|PMID:9536098|PMID:9686753|PMID:9716085 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0050700 cardiomyopathy ISO RGD:731255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10807545|PMID:10961955|PMID:10966831|PMID:11710892|PMID:11823453|PMID:11901046|PMID:12193783|PMID:12471205|PMID:12639704|PMID:14500339|PMID:14760488|PMID:14967853|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15689442|PMID:15851227|PMID:15851440|PMID:15992732|PMID:15996170|PMID:16061744|PMID:16155735|PMID:16267253|PMID:16379539|PMID:16453014|PMID:16453024|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17275750|PMID:17587741|PMID:17605181|PMID:17892895|PMID:17905336|PMID:17967976|PMID:18071069|PMID:18245395|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452875|PMID:18456723|PMID:18976777|PMID:19026623|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19716085|PMID:19799913|PMID:19841298|PMID:19841300|PMID:20102864|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20636320|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21167004|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21621375|PMID:21622575|PMID:22378279|PMID:22519808|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22984773|PMID:22995991|PMID:23091201|PMID:23414114|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23714088|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24317018|PMID:24332150|PMID:24400668|PMID:24606995|PMID:24613995|PMID:24681144|PMID:24736382|PMID:24784157|PMID:24951663|PMID:25051102|PMID:25065297|PMID:25410959|PMID:25637381|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26131924|PMID:26159999|PMID:26213684|PMID:26467025|PMID:26746457|PMID:27153395|PMID:27381756|PMID:27711072|PMID:28087566|PMID:28301460|PMID:28359509|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28589536|PMID:28638671|PMID:28831623|PMID:28988457|PMID:29431662|PMID:29449963|PMID:29672598|PMID:29728395|PMID:29997009|PMID:30079003|PMID:30146492|PMID:30193851|PMID:30364184|PMID:30419068|PMID:30847666|PMID:30972196|PMID:31043699|PMID:31337358|PMID:31737537|PMID:31983221|PMID:32470535|PMID:32533946|PMID:32893267|PMID:33221895|PMID:33258288|PMID:35663620|PMID:8661019|PMID:9716085 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0050820 atrioventricular block ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AV block PMID:11804990|PMID:15671429|PMID:18048769|PMID:19056759|PMID:22581653|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0060224 atrial fibrillation ISO RGD:731255 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:10807545|PMID:11901046|PMID:14967853|PMID:15176425|PMID:15851227|PMID:15992732|PMID:15996170|PMID:16379539|PMID:17210839|PMID:17210841|PMID:17587741|PMID:18088563|PMID:18378609|PMID:18426444|PMID:18929244|PMID:19026623|PMID:19167345|PMID:19716085|PMID:19808477|PMID:19841300|PMID:20129283|PMID:20636320|PMID:21109022|PMID:21143119|PMID:21167004|PMID:21321465|PMID:22378279|PMID:22581653|PMID:22677073|PMID:22685113|PMID:22995991|PMID:23414114|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24317018|PMID:24631775|PMID:24784157|PMID:25410959|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25904541|PMID:26467025|PMID:27153395|PMID:27381756|PMID:27711072|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28341781|PMID:28492532|PMID:29247119|PMID:29449639|PMID:29709244|PMID:30086531|PMID:30193851|PMID:30847666|PMID:31231243|PMID:32048431|PMID:33712541|PMID:34019817|PMID:34758253|PMID:36129056 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0060319 cardiac arrest ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:12354768|PMID:12820704|PMID:15466642|PMID:15840476|PMID:16540748|PMID:17161064|PMID:17210839|PMID:18071069|PMID:18452873|PMID:19412328|PMID:20403459|PMID:20875080|PMID:22378279|PMID:22581653|PMID:23008441|PMID:23098067|PMID:24033266|PMID:24653702|PMID:25741868|PMID:26209461|PMID:26467025|PMID:26749013|PMID:27287068|PMID:28265756|PMID:28492532|PMID:28781330|PMID:29032884 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0060480 left ventricular noncompaction ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:12193783|PMID:12471205|PMID:14500339|PMID:15161528|PMID:15851227|PMID:15992732|PMID:16061744|PMID:16453014|PMID:16453024|PMID:16731473|PMID:16922724|PMID:17185997|PMID:17275750|PMID:17892895|PMID:17967976|PMID:18362431|PMID:18378609|PMID:18452875|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19841300|PMID:20129283|PMID:20403459|PMID:20470418|PMID:20486126|PMID:21325150|PMID:21385947|PMID:21498565|PMID:21621375|PMID:22581653|PMID:22984773|PMID:23091201|PMID:23861362|PMID:24033266|PMID:24332150|PMID:24951663|PMID:25065297|PMID:25741868|PMID:25757662|PMID:25923670|PMID:26467025|PMID:28492532|PMID:29431662|PMID:30364184 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:15840476|PMID:19841300|PMID:20129283|PMID:22581653|PMID:23805106|PMID:24033266|PMID:25351510|PMID:25741868|PMID:25904541|PMID:28492532 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:731255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:15840476|PMID:19841300|PMID:20129283|PMID:22581653|PMID:23805106|PMID:24033266|PMID:25351510|PMID:25741868|PMID:25904541|PMID:28492532|PMID:28600387|PMID:32048431 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:731255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:15840476|PMID:19841300|PMID:20129283|PMID:22581653|PMID:23805106|PMID:24033266|PMID:25351510|PMID:25741868|PMID:25904541|PMID:28492532|PMID:28600387|PMID:32048431 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0070149 hereditary sensory and autonomic neuropathy type 7 ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 7 PMID:28492532 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10690282|PMID:10727653|PMID:11823453|PMID:12639704|PMID:15121794|PMID:15689442|PMID:15851227|PMID:15851440|PMID:15992732|PMID:16155735|PMID:16199547|PMID:16568155|PMID:16707561|PMID:17210839|PMID:17605181|PMID:17905336|PMID:18245395|PMID:18378609|PMID:18976777|PMID:19251209|PMID:19412328|PMID:19841300|PMID:20110800|PMID:20129283|PMID:20486126|PMID:20981092|PMID:22378279|PMID:22407026|PMID:22519808|PMID:22581653|PMID:22682427|PMID:22789973|PMID:22840528|PMID:23174487|PMID:23321620|PMID:23414114|PMID:23465283|PMID:23631430|PMID:23853484|PMID:23861362|PMID:24033266|PMID:24227891|PMID:24529773|PMID:24573164|PMID:24784157|PMID:24795344|PMID:24915601|PMID:25051102|PMID:25172307|PMID:25650408|PMID:25741868|PMID:25748040|PMID:26111534|PMID:26131924|PMID:26159999|PMID:26467025|PMID:27153395|PMID:27281089|PMID:27554632|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28638671|PMID:28798025|PMID:29121719|PMID:29420653|PMID:29672598|PMID:29997009|PMID:30079003|PMID:30146492|PMID:30193851|PMID:30419068|PMID:31333075|PMID:31568572|PMID:32048431|PMID:8661019 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0080662 atrial standstill 1 ISO RGD:731255 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Atrial standstill 1, digenic PMID:12522116|PMID:15466643|PMID:15671429|PMID:15998690|PMID:16188595|PMID:16684018|PMID:19251209|PMID:19716085|PMID:20129283|PMID:20384651|PMID:20539757|PMID:21596231|PMID:21824921|PMID:22247482|PMID:22581653|PMID:23791817|PMID:24136861|PMID:24573164|PMID:24762805|PMID:25741868|PMID:25904541|PMID:26111534|PMID:28492532|PMID:28637969|PMID:33131149|PMID:3953067 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731255 D RGD:7240710 20180802 OMIM 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome 1 | ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:10377081|PMID:10508990|PMID:10532948|PMID:10590249|PMID:10618304|PMID:10690282|PMID:10727653|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11150514|PMID:11222472|PMID:11410597|PMID:11417215|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11786529|PMID:11804990|PMID:11807557|PMID:11823453|PMID:11827685|PMID:11889015|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12051963|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:12877697|PMID:14500339|PMID:14523039|PMID:14607451|PMID:14687250|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15266024|PMID:15277732|PMID:15338453|PMID:15466642|PMID:15520322|PMID:15556047|PMID:15579534|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15828879|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15910881|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16764707|PMID:16864729|PMID:16922724|PMID:17081365|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17504259|PMID:17512504|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17697823|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18304999|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18503232|PMID:18508782|PMID:18596570|PMID:18599870|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18809926|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19561025|PMID:19597050|PMID:19606473|PMID:19632629|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19799913|PMID:19808398|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20102920|PMID:20110800|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20384651|PMID:20395683|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20877689|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:21908450|PMID:22028457|PMID:22090166|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22370247|PMID:22373669|PMID:22378279|PMID:22426227|PMID:2247482|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22710484|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22795782|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23168001|PMID:23174487|PMID:23200271|PMID:23237912|PMID:23293604|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23538271|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome 1 | ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:23714088|PMID:23785128|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24573764|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24895455|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210054|PMID:25210526|PMID:25261036|PMID:25326637|PMID:25344691|PMID:25348405|PMID:25351510|PMID:25410959|PMID:25467552|PMID:25554238|PMID:25624448|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25748040|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26071830|PMID:26111534|PMID:26125038|PMID:26129877|PMID:26131924|PMID:26136871|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26220970|PMID:26282245|PMID:26283144|PMID:26304620|PMID:26332594|PMID:26406308|PMID:26412604|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26680202|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26801742|PMID:26820365|PMID:26822237|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27281089|PMID:27287068|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27816319|PMID:27834932|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28018021|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28183570|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28344931|PMID:28359509|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28611029|PMID:28638671|PMID:28704380|PMID:28725320|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29016939|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29579189|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29766885|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:29998127|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30244407|PMID:30246897|PMID:30364184|PMID:30371189|PMID:30385166|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30670673|PMID:30690642|PMID:30828344|PMID:30828412|PMID:30847666|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31032819|PMID:31043699|PMID:31191357|PMID:31333075|PMID:31337358|PMID:31397097|PMID:31447099|PMID:31470130|PMID:31514951|PMID:31534214|PMID:31535183|PMID:31568572|PMID:31610692|PMID:31638414|PMID:31696929|PMID:31737537|PMID:31866066|PMID:31901299|PMID:31918855|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32323320 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome 1 | ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:32371921|PMID:32383558|PMID:32389048|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32508047|PMID:32533946|PMID:32619740|PMID:32659924|PMID:32746448|PMID:32789579|PMID:32850980|PMID:32880476|PMID:32893267|PMID:32931854|PMID:33071830|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33213388|PMID:33221895|PMID:33232181|PMID:33258288|PMID:33338828|PMID:33500567|PMID:33535892|PMID:33764691|PMID:34019817|PMID:34021086|PMID:34092119|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34539730|PMID:34930020|PMID:34935411|PMID:35284542|PMID:35663620|PMID:35727495|PMID:36129056|PMID:36197721|PMID:36220970|PMID:8661019|PMID:8972392|PMID:9521325|PMID:9536098|PMID:9686753|PMID:9716085 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:731255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:11823453|PMID:12639704|PMID:15121794|PMID:15689442|PMID:15851227|PMID:15851440|PMID:15992732|PMID:16155735|PMID:16568155|PMID:16707561|PMID:17210839|PMID:17605181|PMID:17905336|PMID:18245395|PMID:18378609|PMID:18976777|PMID:19841300|PMID:20129283|PMID:20981092|PMID:22378279|PMID:22407026|PMID:22519808|PMID:22581653|PMID:22682427|PMID:23174487|PMID:23465283|PMID:23631430|PMID:23853484|PMID:23861362|PMID:24033266|PMID:24227891|PMID:24784157|PMID:25051102|PMID:25741868|PMID:26131924|PMID:26159999|PMID:26467025|PMID:27153395|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28638671|PMID:29121719|PMID:29420653|PMID:29672598|PMID:29997009|PMID:30079003|PMID:30146492|PMID:30419068|PMID:32048431|PMID:8661019 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:731255 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:16712702|PMID:18508782|PMID:19716085|PMID:22581653|PMID:23631430|PMID:25741868|PMID:25904541|PMID:28438721|PMID:28492532|PMID:31610692|PMID:34379075 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:16712702|PMID:18508782|PMID:19716085|PMID:22581653|PMID:23631430|PMID:25741868|PMID:25904541|PMID:28438721|PMID:28492532|PMID:31610692|PMID:34379075 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110433 dilated cardiomyopathy 1E ISO RGD:731255 D RGD:7240710 20180130 OMIM 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110433 dilated cardiomyopathy 1E ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2 | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA | ClinVar Annotator: match by term: Dilated cardiomyopathy 1E PMID:10508990|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11222472|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15466642|PMID:15466643|PMID:15556047|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:15998690|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16684018|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17075016|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20384651|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20812931|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22710484|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23791817|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210054|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110433 dilated cardiomyopathy 1E ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2 | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA | ClinVar Annotator: match by term: Dilated cardiomyopathy 1E PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26680202|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26884609|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27066507|PMID:27077130|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28725320|PMID:28779003|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30291343|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30847666|PMID:30972196|PMID:31043699|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32746448|PMID:32880476|PMID:32893267|PMID:33071830|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34930020|PMID:34935411|PMID:36129056|PMID:3953067|PMID:8661019|PMID:9536098|PMID:9716085 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:731255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:11901046|PMID:12106943|PMID:14523039|PMID:15671429|PMID:15851227|PMID:15890323|PMID:16643399|PMID:16712702|PMID:17368591|PMID:19251209|PMID:19841300|PMID:19862833|PMID:20031634|PMID:20102864|PMID:20129283|PMID:20384651|PMID:20448214|PMID:20539757|PMID:21273195|PMID:21596231|PMID:22581653|PMID:22677073|PMID:22685113|PMID:22789973|PMID:22885917|PMID:22899775|PMID:23321620|PMID:23414114|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24613995|PMID:24762805|PMID:24784157|PMID:25171853|PMID:25351510|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25757662|PMID:25904541|PMID:26467025|PMID:26636822|PMID:26743238|PMID:26746457|PMID:26884609|PMID:27000522|PMID:27066507|PMID:27332903|PMID:28482396|PMID:28492532|PMID:30662450|PMID:31043699|PMID:31337358|PMID:31737537|PMID:32048431|PMID:32880476|PMID:9521325 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110644 long QT syndrome 1 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10377081|PMID:10508990|PMID:10727653|PMID:10807545|PMID:10807547|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11823453|PMID:11901046|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12106943|PMID:12193783|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12650885|PMID:12695286|PMID:12820704|PMID:12877697|PMID:14500339|PMID:14687250|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14985827|PMID:14990510|PMID:15028074|PMID:15051636|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15466642|PMID:15579534|PMID:15599693|PMID:15689442|PMID:15840476|PMID:15851227|PMID:15992732|PMID:15996170|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16254012|PMID:16267253|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:16980337|PMID:17075016|PMID:17088455|PMID:17118339|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17275750|PMID:17438610|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17892895|PMID:17905336|PMID:17967976|PMID:17993325|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18508782|PMID:18752142|PMID:18929331|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19083750|PMID:19167345|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19406494|PMID:19411664|PMID:19412328|PMID:19606473|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20541041|PMID:20566482|PMID:20812931|PMID:20875080|PMID:21051419|PMID:21126620|PMID:21185501|PMID:21193062|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21498565|PMID:21621375|PMID:21622575|PMID:21911102|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22331908|PMID:22337857|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22581653|PMID:22685113|PMID:22705208|PMID:22721569|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22936642|PMID:22984773|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23158531|PMID:23174487|PMID:23321620|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23805106|PMID:23838598|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24332150|PMID:24349418|PMID:2437023|PMID:24573164|PMID:24596401|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24871449|PMID:24951663|PMID:25051102|PMID:25065297|PMID:25210526|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26125038|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26332594|PMID:26412604|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26803770|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27930701|PMID:28087622|PMID:28150151|PMID:28183995|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28492532|PMID:28494446|PMID:28567303|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29540853|PMID:29579189|PMID:29606593 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110644 long QT syndrome 1 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29956481|PMID:30059973|PMID:30079003|PMID:30193851|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30385166|PMID:30497561|PMID:30609406|PMID:30690642|PMID:30755392|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31231243|PMID:31262209|PMID:31447099|PMID:31501239|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32153684|PMID:32268277|PMID:32437023|PMID:32449611|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32746448|PMID:32893267|PMID:33131149|PMID:33221895|PMID:33338828|PMID:33712541|PMID:34135346|PMID:34379075|PMID:34426522|PMID:34758253|PMID:35052356|PMID:35535697|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9716085 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110645 long QT syndrome 2 ISO RGD:731255 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:18378609|PMID:21321465|PMID:22581653|PMID:22685113|PMID:25741868|PMID:28202948|PMID:28492532|PMID:32048431|PMID:36129056 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110646 long QT syndrome 3 ISO RGD:731255 D RGD:7240710 20180130 OMIM 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110646 long QT syndrome 3 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 3 PMID:10200053|PMID:10377081|PMID:10448858|PMID:10508990|PMID:10590249|PMID:10618304|PMID:10727653|PMID:10772658|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11076825|PMID:11410597|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11889015|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12574983|PMID:12639704|PMID:12650885|PMID:12673799|PMID:12695286|PMID:12820704|PMID:12877697|PMID:14500339|PMID:14523039|PMID:14654377|PMID:14687250|PMID:14736542|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14990510|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15051636|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15184283|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15466643|PMID:15556047|PMID:15579534|PMID:15599693|PMID:15621041|PMID:15670972|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:15998690|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16254012|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16684018|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:16980337|PMID:17088455|PMID:17118339|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18697752|PMID:18752142|PMID:18809926|PMID:18849657|PMID:18929331|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19167345|PMID:19167409|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19863579|PMID:19996378|PMID:20031634|PMID:20090423|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20384651|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20728579|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21193062|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21410720|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:21908450|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22247482|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22710484|PMID:22721569|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23791817|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24167619|PMID:24190697 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110646 long QT syndrome 3 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 3 PMID:24218437|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24871449|PMID:24895455|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210054|PMID:25210526|PMID:25261036|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26111534|PMID:26125038|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26669661|PMID:26680202|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26803770|PMID:26820365|PMID:26822237|PMID:26884609|PMID:26888838|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28725320|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29956481|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30369311|PMID:30385166|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30828412|PMID:30847666|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31043699|PMID:31191357|PMID:31231243|PMID:31262209|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31776209|PMID:31866066|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32145446|PMID:32233023|PMID:32323320|PMID:32371921|PMID:32389048|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32659924|PMID:32746448|PMID:32850980|PMID:32880476|PMID:32893267|PMID:33071830|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33164571|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33712541|PMID:34008892|PMID:34019817|PMID:34122134|PMID:34135346|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34539730|PMID:34755423|PMID:34758253|PMID:34930020|PMID:34935411|PMID:35535697|PMID:36129056|PMID:36197721|PMID:3953067|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8661019|PMID:8917568|PMID:8972392|PMID:9495298|PMID:9506831|PMID:9536098|PMID:9716085 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0110646 long QT syndrome 3 treatment ISO RGD:731255 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:30566038|REF_RGD_ID:13831293 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0111073 progressive familial heart block ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: Progressive familial heart block PMID:10471492|PMID:10508990|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11222472|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15556047|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17438607|PMID:17438610|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20110800|PMID:20123697|PMID:20129283|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26680202|PMID:26713557 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0111073 progressive familial heart block ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: Progressive familial heart block PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27077130|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30847666|PMID:30972196|PMID:31043699|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32323320|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32746448|PMID:32880476|PMID:32893267|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34930020|PMID:34935411|PMID:36129056|PMID:8661019|PMID:9536098|PMID:9716085 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0111074 progressive familial heart block type IA ISO RGD:731255 D RGD:7240710 20180130 OMIM 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0111074 progressive familial heart block type IA ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA PMID:10471492|PMID:10508990|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11222472|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15556047|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17438607|PMID:17438610|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26680202|PMID:26713557|PMID:26743238 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0111074 progressive familial heart block type IA ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27077130|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30847666|PMID:30972196|PMID:31043699|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32323320|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32746448|PMID:32880476|PMID:32893267|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34930020|PMID:34935411|PMID:36129056|PMID:8661019|PMID:9536098|PMID:9716085 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:23861362|PMID:25741868|PMID:28492532|PMID:31680123 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:10273 heart conduction disease ISO RGD:731255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Conduction system disorder PMID:10532948|PMID:10618304|PMID:11029409|PMID:11123251|PMID:11234013|PMID:11748104|PMID:11827685|PMID:12569159|PMID:12574143|PMID:14523039|PMID:15520322|PMID:16922724|PMID:18065446|PMID:18809926|PMID:19251209|PMID:19606473|PMID:19716085|PMID:20025708|PMID:20031634|PMID:20129283|PMID:20384651|PMID:20539757|PMID:20564468|PMID:21552533|PMID:22581653|PMID:22885917|PMID:24136861|PMID:24573164|PMID:24815523|PMID:24948852|PMID:25624448|PMID:25637381|PMID:25741868|PMID:26022185|PMID:26031372|PMID:26916278|PMID:27082542|PMID:27554632|PMID:28449774|PMID:28492532|PMID:28739862|PMID:28781330|PMID:29167113|PMID:29709101|PMID:29728395|PMID:30193851|PMID:30662450|PMID:30847666|PMID:31191357|PMID:31447099|PMID:31866066|PMID:31928070|PMID:31981491|PMID:32048431|PMID:32371921|PMID:32383558|PMID:32533946|PMID:32746448|PMID:32850980|PMID:33131149|PMID:34539730|PMID:9521325 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:10969 hemiplegia ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemiplegia PMID:11804990|PMID:19056759|PMID:22581653|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10807545|PMID:15689442|PMID:15851227|PMID:16155735|PMID:17227473|PMID:18426444|PMID:19841300|PMID:20129283|PMID:21321465|PMID:22581653|PMID:23861362|PMID:24033266|PMID:24463578|PMID:24721456|PMID:25741868|PMID:28492532 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:11804990|PMID:15671429|PMID:16267253|PMID:16379539|PMID:16453024|PMID:16611632|PMID:17442746|PMID:18048769|PMID:19056759|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20458009|PMID:20981092|PMID:21167004|PMID:21483645|PMID:21596231|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22995991|PMID:22999724|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24349418|PMID:24736382|PMID:24815523|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25348405|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741286|PMID:25741868|PMID:25904541|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28166811|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:29998127|PMID:30086531|PMID:30193851|PMID:31333075|PMID:31568572|PMID:9521325 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:731255 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:11804990|PMID:15671429|PMID:16267253|PMID:16379539|PMID:16453024|PMID:16611632|PMID:17442746|PMID:18048769|PMID:19056759|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20458009|PMID:20981092|PMID:21167004|PMID:21483645|PMID:21596231|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22995991|PMID:22999724|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24349418|PMID:24736382|PMID:24815523|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25348405|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741286|PMID:25741868|PMID:25904541|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28166811|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30972196|PMID:31333075|PMID:31568572|PMID:32533946|PMID:33221895|PMID:9521325 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:731255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:11804990|PMID:15671429|PMID:16267253|PMID:16379539|PMID:16453024|PMID:16611632|PMID:17442746|PMID:18048769|PMID:19056759|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20458009|PMID:20981092|PMID:21167004|PMID:21483645|PMID:21596231|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22995991|PMID:22999724|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24349418|PMID:24736382|PMID:24815523|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25348405|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741286|PMID:25741868|PMID:25904541|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28166811|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:28988457|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30972196|PMID:31333075|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31901299|PMID:32533946|PMID:33084224|PMID:33221895|PMID:9521325 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:11804990|PMID:15671429|PMID:16267253|PMID:16379539|PMID:16453024|PMID:16611632|PMID:17442746|PMID:18048769|PMID:19056759|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20458009|PMID:20981092|PMID:21167004|PMID:21483645|PMID:21596231|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22995991|PMID:22999724|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24349418|PMID:24736382|PMID:24815523|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741868|PMID:25904541|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:28988457|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30972196|PMID:31333075|PMID:31477192|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31901299|PMID:31983221|PMID:32533946|PMID:32880476|PMID:33084224|PMID:33221895|PMID:9521325 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10807545|PMID:10807547|PMID:10966831|PMID:11463728|PMID:11804990|PMID:11997281|PMID:12193783|PMID:12471205|PMID:12569159|PMID:12639704|PMID:14500339|PMID:14760488|PMID:14985827|PMID:15161528|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15851227|PMID:15992732|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16379539|PMID:16453014|PMID:16453024|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17275750|PMID:17442746|PMID:17675083|PMID:17892895|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18093912|PMID:18156160|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452875|PMID:19026623|PMID:19056759|PMID:19083750|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20981092|PMID:21167004|PMID:21325150|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23091201|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24332150|PMID:24349418|PMID:24736382|PMID:24815523|PMID:24951663|PMID:25065297|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:28988457|PMID:29431662|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30364184|PMID:30972196|PMID:31333075|PMID:31477192|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31901299|PMID:31983221|PMID:32533946|PMID:32880476|PMID:33084224|PMID:33221895|PMID:9521325 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10807545|PMID:10807547|PMID:10966831|PMID:11463728|PMID:11804990|PMID:11997281|PMID:12193783|PMID:12471205|PMID:12569159|PMID:12639704|PMID:14500339|PMID:14760488|PMID:14985827|PMID:15161528|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15851227|PMID:15992732|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16379539|PMID:16453014|PMID:16453024|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17275750|PMID:17442746|PMID:17675083|PMID:17892895|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18093912|PMID:18156160|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452875|PMID:18508782|PMID:19026623|PMID:19056759|PMID:19083750|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20981092|PMID:21167004|PMID:21325150|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23091201|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24332150|PMID:24349418|PMID:24736382|PMID:24815523|PMID:24951663|PMID:25065297|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:28988457|PMID:29431662|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30364184|PMID:30972196|PMID:31333075|PMID:31477192|PMID:31514951|PMID:31568572|PMID:31610692|PMID:31737537|PMID:31901299|PMID:31983221|PMID:32533946|PMID:32880476|PMID:33084224|PMID:33221895|PMID:34379075|PMID:9521325 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:13884 sick sinus syndrome ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome | ClinVar Annotator: match by term: Sinus node disease PMID:10377081|PMID:10727653|PMID:10961955|PMID:10973849|PMID:11901046|PMID:12877697|PMID:14523039|PMID:15840476|PMID:16379539|PMID:16453024|PMID:18451998|PMID:18452873|PMID:18508782|PMID:19716085|PMID:19841300|PMID:20110800|PMID:20129283|PMID:20384651|PMID:20448214|PMID:20539757|PMID:21321465|PMID:22090166|PMID:22370247|PMID:22581653|PMID:22789973|PMID:23631430|PMID:24033266|PMID:24762805|PMID:24784157|PMID:24871449|PMID:25741868|PMID:26125038|PMID:26467025|PMID:27381756|PMID:28492532|PMID:28781849|PMID:29806494|PMID:30385166|PMID:31447099|PMID:31737537|PMID:32096284 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:2316 brain ischemia ISO RGD:3637 D RGD:9068941 20200609 RGD PMID:19471098|REF_RGD_ID:6484225 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:25923670|PMID:26022185|PMID:26125038|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26332594|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27711072|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28166811|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29728395|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29791480|PMID:29874177|PMID:29884292|PMID:29915097|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30153324|PMID:30193851|PMID:30364184|PMID:30385166|PMID:30758498|PMID:30847666|PMID:31019283|PMID:31043699|PMID:31262209|PMID:31337358|PMID:31737537|PMID:31866066|PMID:31983221|PMID:32009526|PMID:32096284|PMID:32153684|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32746448|PMID:33131149|PMID:33535892|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:10377081|PMID:10508990|PMID:10618304|PMID:10627139|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10758053|PMID:10772658|PMID:10807545|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11076825|PMID:11123251|PMID:11150514|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11807557|PMID:11823453|PMID:11901046|PMID:11997281|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12208804|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12574983|PMID:12639704|PMID:12650879|PMID:12650885|PMID:12673799|PMID:12695286|PMID:12820704|PMID:12877697|PMID:12898257|PMID:14500339|PMID:14676229|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14990510|PMID:14998624|PMID:15047701|PMID:15051636|PMID:15120823|PMID:15136511|PMID:15161528|PMID:15176425|PMID:15184283|PMID:15466642|PMID:15485686|PMID:15579534|PMID:15599693|PMID:15621041|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15851227|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16188595|PMID:16199547|PMID:16239976|PMID:16244680|PMID:16254012|PMID:16267253|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16521247|PMID:16540748|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17075016|PMID:17088455|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17275750|PMID:17438607|PMID:17504259|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17698727|PMID:17892895|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18060054|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18848812|PMID:18929331|PMID:18984535|PMID:19026623|PMID:19027780|PMID:19083750|PMID:19167345|PMID:19167409|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19808432|PMID:19841300|PMID:19843919|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20090423|PMID:20102864|PMID:20102920|PMID:20110800|PMID:20129283|PMID:20137763|PMID:20339117|PMID:20384651|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20636320|PMID:20812931|PMID:20875080|PMID:20981092|PMID:21051419|PMID:21076026|PMID:21109022|PMID:21126620|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21193062|PMID:21216356|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21908450|PMID:22090165|PMID:22090166|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22426227|PMID:22490985|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22685113|PMID:22705208|PMID:22710484|PMID:22721569|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23158531|PMID:23174487|PMID:23293604|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23692053|PMID:23805106|PMID:23838598|PMID:23861362|PMID:23936059|PMID:23998552|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24573164|PMID:24596401|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24951663|PMID:24963427|PMID:25051102|PMID:25065297|PMID:25119684|PMID:25210054|PMID:25210526|PMID:25326637|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741286|PMID:25741868 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26125038|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26332594|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27711072|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28166811|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28449774|PMID:28492532|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29728395|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29791480|PMID:29874177|PMID:29884292|PMID:29915097|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30153324|PMID:30193851|PMID:30291343|PMID:30364184|PMID:30385166|PMID:30758498|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31262209|PMID:31337358|PMID:31447099|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32096284|PMID:32153684|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32746448|PMID:33131149|PMID:33221895|PMID:33535892|PMID:34021086|PMID:35535697|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26125038|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26332594|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27711072|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28166811|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28449774|PMID:28492532|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29728395|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29791480|PMID:29874177|PMID:29884292|PMID:29915097|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30153324|PMID:30193851|PMID:30291343|PMID:30364184|PMID:30385166|PMID:30758498|PMID:30828412|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31262209|PMID:31337358|PMID:31447099|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32096284|PMID:32153684|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32746448|PMID:33131149|PMID:33221895|PMID:33535892|PMID:34021086|PMID:35535697|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:10200053|PMID:10377081|PMID:10508990|PMID:10618304|PMID:10627139|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10758053|PMID:10772658|PMID:10807545|PMID:10807547|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11076825|PMID:11123251|PMID:11150514|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11807557|PMID:11823453|PMID:11901046|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12208804|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12574983|PMID:12639704|PMID:12650885|PMID:12673799|PMID:12695286|PMID:12820704|PMID:12877697|PMID:12898257|PMID:14500339|PMID:14676229|PMID:14687250|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14990510|PMID:14998624|PMID:15028074|PMID:15047701|PMID:15051636|PMID:15120823|PMID:15136511|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15184283|PMID:15466642|PMID:15485686|PMID:15579534|PMID:15599693|PMID:15621041|PMID:15670972|PMID:15689442|PMID:15840476|PMID:15851227|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16188595|PMID:16199547|PMID:16239976|PMID:16244680|PMID:16254012|PMID:16267253|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16521247|PMID:16540748|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:16980337|PMID:17075016|PMID:17088455|PMID:17118339|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17275750|PMID:17438607|PMID:17438610|PMID:17504259|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17698727|PMID:17892895|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18060054|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18848812|PMID:18929331|PMID:18984535|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19083750|PMID:19167345|PMID:19167409|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19411664|PMID:19412328|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19808432|PMID:19841300|PMID:19843919|PMID:19843921|PMID:19862833|PMID:19863579|PMID:19996378|PMID:20031634|PMID:20090423|PMID:20102864|PMID:20102920|PMID:20110800|PMID:20129283|PMID:20137763|PMID:20339117|PMID:20384651|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20566482|PMID:20636320|PMID:20812931|PMID:20875080|PMID:20981092|PMID:21051419|PMID:21076026|PMID:21109022|PMID:21126620|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21193062|PMID:21216356|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21908450|PMID:21911102|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22426227|PMID:22490985|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22685113|PMID:22705208|PMID:22710484|PMID:22721569|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22936642|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23158531|PMID:23174487|PMID:23293604|PMID:23321620|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23692053|PMID:23805106|PMID:23838598|PMID:23861362|PMID:23936059|PMID:23998552|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24218437|PMID:24317018|PMID:24332150|PMID:24349418|PMID:2437023|PMID:24388587|PMID:24573164|PMID:24596401|PMID:24599044|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24736382|PMID:24762805 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:24784157|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24951663|PMID:24963427|PMID:25051102|PMID:25065297|PMID:25119684|PMID:25210054|PMID:25210526|PMID:25326637|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26125038|PMID:26132555|PMID:26150789|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26304620|PMID:26332594|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26803770|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27711072|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28183995|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28492532|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29574140|PMID:29579189|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29915097|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30153324|PMID:30193851|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30385166|PMID:30497561|PMID:30609406|PMID:30755392|PMID:30758498|PMID:30828412|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31231243|PMID:31262209|PMID:31337358|PMID:31447099|PMID:31501239|PMID:31614475|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31900993|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32153684|PMID:32233023|PMID:32268277|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32746448|PMID:32893267|PMID:33071830|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33535892|PMID:33712541|PMID:34021086|PMID:34219138|PMID:34426522|PMID:34758253|PMID:35535697|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753|PMID:9716085 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:24784157|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24951663|PMID:24963427|PMID:25051102|PMID:25065297|PMID:25119684|PMID:25210054|PMID:25210526|PMID:25326637|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26125038|PMID:26132555|PMID:26150789|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26304620|PMID:26332594|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26803770|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27711072|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28183995|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28492532|PMID:28494446|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29915097|PMID:29956481|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30153324|PMID:30193851|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30385166|PMID:30497561|PMID:30609406|PMID:30690642|PMID:30755392|PMID:30758498|PMID:30828412|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31231243|PMID:31262209|PMID:31337358|PMID:31447099|PMID:31501239|PMID:31610692|PMID:31614475|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31900993|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32153684|PMID:32233023|PMID:32268277|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32746448|PMID:32893267|PMID:33071830|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33535892|PMID:33712541|PMID:34021086|PMID:34135346|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34758253|PMID:35052356|PMID:35535697|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753|PMID:9716085 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:18752142|PMID:18752973|PMID:22581653|PMID:25326637|PMID:25741868|PMID:25904541|PMID:28492532|PMID:30662450|PMID:32233023 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:6000 congestive heart failure ISO RGD:3637 D RGD:9068941 20200609 RGD mRNA:decreased expression:ventricle myocardium PMID:19584134|REF_RGD_ID:6484224 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:630 genetic disease ISO RGD:731255 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10471492|PMID:10940383|PMID:11710892|PMID:11901046|PMID:12736279|PMID:14523039|PMID:15655131|PMID:15840476|PMID:16453024|PMID:16684018|PMID:17210839|PMID:18378609|PMID:19251209|PMID:20100972|PMID:20129283|PMID:22581653|PMID:22766342|PMID:22840528|PMID:22999724|PMID:24631775|PMID:24768612|PMID:25274057|PMID:25741868|PMID:25904541|PMID:26173111|PMID:26820365|PMID:28104484|PMID:28492532|PMID:29574140|PMID:30847666|PMID:31776209|PMID:32893267|PMID:33221895|PMID:34930020|PMID:9753711 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:6364 migraine ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Migraine Disorders PMID:11804990|PMID:19056759|PMID:22581653|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9000060 Cardiac Conduction Defect, Nonspecific ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific PMID:11748104|PMID:12574143|PMID:14523039|PMID:16922724|PMID:18809926|PMID:19251209|PMID:19606473|PMID:19716085|PMID:20031634|PMID:20129283|PMID:20384651|PMID:20539757|PMID:22581653|PMID:22885917|PMID:24136861|PMID:24573164|PMID:24815523|PMID:24948852|PMID:25624448|PMID:25637381|PMID:25741868|PMID:26022185|PMID:26031372|PMID:26916278|PMID:27082542|PMID:28449774|PMID:28492532|PMID:28781330|PMID:29167113|PMID:29709101|PMID:29728395|PMID:30193851|PMID:30662450|PMID:30847666|PMID:31191357|PMID:31447099|PMID:31866066|PMID:31928070|PMID:31981491|PMID:32048431|PMID:32371921|PMID:32533946|PMID:32746448|PMID:32850980|PMID:33131149|PMID:34539730 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731255 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23785128|PMID:23791817|PMID:2380016|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24223155|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24892747|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25119684|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210526|PMID:25326637|PMID:25344691|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25460174|PMID:25525159|PMID:25554238|PMID:25616976|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25748040|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26066609|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26220391|PMID:26282245|PMID:26304136|PMID:26332594|PMID:26406308|PMID:26423924|PMID:26467025|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26656175|PMID:26669661|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26798387|PMID:26801742|PMID:26822237|PMID:26884609|PMID:26916278|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27153395|PMID:27281089|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27816319|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28018021|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28166811|PMID:28183570|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28449774|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29016939|PMID:29032884|PMID:29121719|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29874177|PMID:29884292|PMID:29915097|PMID:29997009|PMID:29998127|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30244407|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30371189|PMID:30419068|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30700137|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31130284|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31397097|PMID:31447099|PMID:31453232|PMID:31534214|PMID:31568572|PMID:31680123|PMID:31709321|PMID:31713545|PMID:31737537|PMID:31751991|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32153684|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32659924|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33535892|PMID:33712541|PMID:3953067|PMID:8661019|PMID:8972392|PMID:9521325|PMID:9536098 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:10508990|PMID:10532948|PMID:10618304|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11417215|PMID:11463728|PMID:11710892|PMID:11786529|PMID:11804990|PMID:11807557|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:12898257|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14998624|PMID:15028074|PMID:15047701|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15266024|PMID:15277732|PMID:15466642|PMID:15466643|PMID:15520322|PMID:15556047|PMID:15579534|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15890323|PMID:15992732|PMID:15996170|PMID:15998675|PMID:15998690|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16521247|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16643399|PMID:16684018|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16764707|PMID:16922724|PMID:17075016|PMID:17081365|PMID:17088455|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17404158|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17504259|PMID:17510181|PMID:17512504|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17697823|PMID:17854786|PMID:17892895|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18375968|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18503232|PMID:18508782|PMID:18596570|PMID:18599870|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18848812|PMID:18849657|PMID:18976777|PMID:18984535|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19075524|PMID:19083750|PMID:19167345|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19561025|PMID:19564561|PMID:19597050|PMID:19606473|PMID:19632629|PMID:19648062|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19799913|PMID:19808398|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19957170|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20110800|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20384651|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20564468|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20812931|PMID:20875080|PMID:20877689|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:21908450|PMID:21911102|PMID:22028457|PMID:22064211|PMID:22247482|PMID:22331908|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22407026|PMID:22426227|PMID:2247482|PMID:22490985|PMID:22519808|PMID:22529811|PMID:22557970|PMID:22581653|PMID:22675453|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22705208|PMID:22789973|PMID:22795782|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22936642|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23105938|PMID:23139254|PMID:23158531|PMID:23168001|PMID:23174487|PMID:23237912|PMID:23293604 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:23299917|PMID:23321620|PMID:23376825|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23424222|PMID:23425522|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23785128|PMID:23791817|PMID:2380016|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24223155|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24775617|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24892747|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25119684|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210526|PMID:25261036|PMID:25326637|PMID:25344691|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25460174|PMID:25525159|PMID:25554238|PMID:25616976|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25748040|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26066609|PMID:26071830|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26304136|PMID:26332594|PMID:26406308|PMID:26423924|PMID:26467025|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26656175|PMID:26669661|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26801742|PMID:26820365|PMID:26822237|PMID:26828384|PMID:26884609|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27153395|PMID:27281089|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27816319|PMID:27834932|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28018021|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28166811|PMID:28183570|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28316956|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29016939|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29121719|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29309564|PMID:29325976|PMID:29331327|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29579189|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29874177|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29915097|PMID:29961767|PMID:29997009|PMID:29998127|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30218094|PMID:30244407|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30371189|PMID:30403391|PMID:30419068|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30670673|PMID:30690642|PMID:30700137|PMID:30755392|PMID:30828412 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:30847666|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31020160|PMID:31032819|PMID:31043699|PMID:31130284|PMID:31231243|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31397097|PMID:31447099|PMID:31453232|PMID:31470130|PMID:31514951|PMID:31534214|PMID:31535183|PMID:31568572|PMID:31638414|PMID:31680123|PMID:31696929|PMID:31709321|PMID:31713545|PMID:31737537|PMID:31751991|PMID:31776209|PMID:31866066|PMID:31901299|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32055599|PMID:32091595|PMID:32145446|PMID:32153684|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32389048|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32619740|PMID:32659924|PMID:32746448|PMID:32789579|PMID:32880476|PMID:32893267|PMID:33071830|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33213388|PMID:33221895|PMID:33232181|PMID:33258288|PMID:33338828|PMID:33500567|PMID:33535892|PMID:33712541|PMID:33764691|PMID:34019817|PMID:34021086|PMID:34092119|PMID:34127479|PMID:34219138|PMID:34426522|PMID:34620408|PMID:34755423|PMID:34758253|PMID:34930020|PMID:35535697|PMID:35663620|PMID:36197721|PMID:3953067|PMID:8661019|PMID:8972392|PMID:9521325|PMID:9536098|PMID:9716085 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:10508990|PMID:10532948|PMID:10618304|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11417215|PMID:11463728|PMID:11710892|PMID:11786529|PMID:11804990|PMID:11807557|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:12898257|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14998624|PMID:15028074|PMID:15047701|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15266024|PMID:15277732|PMID:15466642|PMID:15466643|PMID:15520322|PMID:15556047|PMID:15579534|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15890323|PMID:15992732|PMID:15996170|PMID:15998675|PMID:15998690|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16521247|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16643399|PMID:16684018|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16764707|PMID:16922724|PMID:17075016|PMID:17081365|PMID:17088455|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17404158|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17504259|PMID:17510181|PMID:17512504|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17697823|PMID:17854786|PMID:17892895|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18375968|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18503232|PMID:18508782|PMID:18596570|PMID:18599870|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18848812|PMID:18849657|PMID:18976777|PMID:18984535|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19075524|PMID:19083750|PMID:19167345|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19561025|PMID:19564561|PMID:19597050|PMID:19606473|PMID:19632629|PMID:19648062|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19799913|PMID:19808398|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19957170|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20110800|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20384651|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20564468|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20812931|PMID:20875080|PMID:20877689|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:21908450|PMID:21911102|PMID:22028457|PMID:22064211|PMID:22247482|PMID:22331908|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22407026|PMID:22426227|PMID:2247482|PMID:22490985|PMID:22519808|PMID:22529811|PMID:22557970|PMID:22581653|PMID:22675453|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22705208|PMID:22789973|PMID:22795782|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22936642|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23085483|PMID:23091201|PMID:23098067|PMID:23105938|PMID:23139254|PMID:23158531|PMID:23168001|PMID:23174487|PMID:23237912 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:23293604|PMID:23299917|PMID:23321620|PMID:23376825|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23424222|PMID:23425522|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23785128|PMID:23791817|PMID:2380016|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24223155|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:2437023|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24775617|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24892747|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25119684|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210526|PMID:25261036|PMID:25326637|PMID:25344691|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25460174|PMID:25525159|PMID:25554238|PMID:25616976|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25748040|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26066609|PMID:26071830|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26132555|PMID:26136871|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26304136|PMID:26332594|PMID:26406308|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26656175|PMID:26669661|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26801742|PMID:26820365|PMID:26822237|PMID:26828384|PMID:26884609|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27108952|PMID:27153395|PMID:27281089|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27816319|PMID:27834932|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28018021|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28166811|PMID:28183570|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28316956|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29016939|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29121719|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29309564|PMID:29325976|PMID:29331327|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29766885|PMID:29773157|PMID:29790872|PMID:29791480|PMID:29874177|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29915097|PMID:29956481|PMID:29961767|PMID:29997009|PMID:29998127|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30218094|PMID:30244407|PMID:30246897|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30369311 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:30371189|PMID:30403391|PMID:30419068|PMID:30532816|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30670673|PMID:30690642|PMID:30700137|PMID:30755392|PMID:30775854|PMID:30828412|PMID:30847666|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31020160|PMID:31032819|PMID:31043699|PMID:31130284|PMID:31231243|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31397097|PMID:31447099|PMID:31453232|PMID:31470130|PMID:31514951|PMID:31534214|PMID:31535183|PMID:31568572|PMID:31610692|PMID:31638414|PMID:31680123|PMID:31696929|PMID:31709321|PMID:31713545|PMID:31737537|PMID:31751991|PMID:31776209|PMID:31866066|PMID:31901299|PMID:31918855|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32055599|PMID:32091595|PMID:32145446|PMID:32153684|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32389048|PMID:32431610|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32508047|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32619740|PMID:32659924|PMID:32746448|PMID:32789579|PMID:32880476|PMID:32893267|PMID:33071830|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33213388|PMID:33221895|PMID:33232181|PMID:33258288|PMID:33338828|PMID:33500567|PMID:33535892|PMID:33712541|PMID:33764691|PMID:34019817|PMID:34021086|PMID:34092119|PMID:34127479|PMID:34135346|PMID:34219138|PMID:34302607|PMID:34379075|PMID:34426522|PMID:34620408|PMID:34755423|PMID:34758253|PMID:34930020|PMID:34935411|PMID:35052356|PMID:35284542|PMID:35535697|PMID:35663620|PMID:36129056|PMID:36197721|PMID:3953067|PMID:8661019|PMID:8972392|PMID:9521325|PMID:9536098|PMID:9716085 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9000184 Ventricular Fibrillation ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:10940383|PMID:11827685|PMID:14961552|PMID:15266024|PMID:17141278|PMID:17675083|PMID:17993325|PMID:19026623|PMID:22247482|PMID:22581653|PMID:23139254|PMID:24190697|PMID:25326637|PMID:25741868|PMID:26798387|PMID:28492532|PMID:30609406|PMID:33221895 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:12354768|PMID:12820704|PMID:15466642|PMID:15840476|PMID:16540748|PMID:17161064|PMID:17210839|PMID:18071069|PMID:18452873|PMID:19412328|PMID:20403459|PMID:20875080|PMID:22378279|PMID:22581653|PMID:23008441|PMID:23098067|PMID:24033266|PMID:24653702|PMID:25741868|PMID:26209461|PMID:26467025|PMID:26749013|PMID:27287068|PMID:28265756|PMID:28492532|PMID:28781330|PMID:29032884 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9000526 DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES ISO RGD:731255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities PMID:25741868|PMID:28492532 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9000543 Death ISO RGD:731255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Death in early adulthood PMID:11997281|PMID:14760488|PMID:15840476|PMID:18071069|PMID:19716085|PMID:19841300|PMID:20129283|PMID:20486126|PMID:22378279|PMID:22581653|PMID:23414114|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24613995|PMID:24713084|PMID:25637381|PMID:25650408|PMID:25741868|PMID:26669661|PMID:27153395|PMID:27435932|PMID:27930701|PMID:28412158|PMID:28492532|PMID:28798025|PMID:29728395|PMID:29874177|PMID:30079003|PMID:30193851|PMID:31262209|PMID:31737537|PMID:32516855 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9000727 Syncope ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syncope PMID:25741868 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9001436 Immunodeficiency 68 ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:10508990|PMID:10961955|PMID:10973849|PMID:17210839|PMID:17210841|PMID:17646591|PMID:18451998|PMID:19716085|PMID:19841300|PMID:22378279|PMID:22581653|PMID:22685113|PMID:23465283|PMID:24033266|PMID:24055113|PMID:24144883|PMID:24613995|PMID:24631775|PMID:25210526|PMID:25351510|PMID:25410959|PMID:25637381|PMID:25741868|PMID:25904541|PMID:26743238|PMID:26746457|PMID:26822237|PMID:28341588|PMID:28412158|PMID:28492532|PMID:28988457|PMID:29247119|PMID:29331327|PMID:29764897|PMID:29790872|PMID:30847666|PMID:31019283|PMID:31043699|PMID:32048431|PMID:34426522 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9002081 Long QT Syndrome 2/3 ISO RGD:731255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2/3, digenic PMID:16922724|PMID:22581653|PMID:22685113|PMID:23396983|PMID:23861362|PMID:24606995|PMID:25741868|PMID:28492532|PMID:28988457|PMID:29728395 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9002643 Long QT Syndrome 3/6 ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 3/6, digenic PMID:10200053|PMID:10508990|PMID:10618304|PMID:10772658|PMID:10973849|PMID:12574983|PMID:15051636|PMID:15184283|PMID:15621041|PMID:15670972|PMID:16922724|PMID:19167409|PMID:19716085|PMID:19841300|PMID:19863579|PMID:20090423|PMID:20129283|PMID:22360817|PMID:22581653|PMID:24218437|PMID:25904541|PMID:28492532|PMID:9495298|PMID:9506831 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:10377081|PMID:10448858|PMID:10471492|PMID:10508990|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11013131|PMID:11076825|PMID:11123251|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11417215|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11748104|PMID:11786529|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12598077|PMID:12639704|PMID:12650885|PMID:12673799|PMID:12693506|PMID:12695286|PMID:12820704|PMID:12877697|PMID:14500339|PMID:14523039|PMID:14607451|PMID:14654377|PMID:14676229|PMID:14687250|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14990510|PMID:15023552|PMID:15028074|PMID:15051636|PMID:15121794|PMID:15136511|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15466643|PMID:15556047|PMID:15579534|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15828879|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15890323|PMID:15910881|PMID:15992732|PMID:15996170|PMID:15998675|PMID:15998690|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16254012|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16521247|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16643399|PMID:16684018|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16764707|PMID:16864729|PMID:16922724|PMID:16980337|PMID:17075016|PMID:17088455|PMID:17118339|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17504259|PMID:17512504|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17697823|PMID:17698727|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18252757|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18465145|PMID:18503232|PMID:18508782|PMID:18599870|PMID:18616619|PMID:18697752|PMID:18708744|PMID:18752142|PMID:18809926|PMID:18849657|PMID:18929331|PMID:18976777|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19029124|PMID:19056759|PMID:19083750|PMID:19167345|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19411664|PMID:19412328|PMID:19564561|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19808398|PMID:19808440|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19957170|PMID:19996378|PMID:20022821|PMID:20031634|PMID:20102864|PMID:20110800|PMID:20123697|PMID:20129283|PMID:20345624|PMID:20381179|PMID:20384651|PMID:20395683|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20728579|PMID:20812931|PMID:20875080|PMID:20960617|PMID:20960618|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21193062|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21566136|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:21911102|PMID:22028457|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22247482|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22407026|PMID:22426227|PMID:2247482|PMID:22490985|PMID:22519808 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:22557970|PMID:22581653|PMID:22675453|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22705208|PMID:22717692|PMID:22721569|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22936642|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23105938|PMID:23139254|PMID:23158531|PMID:23168001|PMID:23174487|PMID:23293604|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23425522|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23785128|PMID:23791817|PMID:2380016|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24223155|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:24365614|PMID:2437023|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24581105|PMID:24582607|PMID:24596401|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24768612|PMID:24784157|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24895455|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24972929|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25119684|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210526|PMID:25326637|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25460174|PMID:25467552|PMID:25481746|PMID:25525159|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26036855|PMID:26066609|PMID:26071830|PMID:26111534|PMID:26125038|PMID:26129877|PMID:26131924|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26283144|PMID:26304136|PMID:26332594|PMID:26392562|PMID:26406308|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26656175|PMID:26669661|PMID:26680202|PMID:26713557|PMID:26724572|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26801742|PMID:26803770|PMID:26820365|PMID:26822237|PMID:26828384|PMID:26884609|PMID:26888838|PMID:26916278|PMID:26941339|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27784737|PMID:27810048|PMID:27834932|PMID:27871843|PMID:27896284|PMID:27930354|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28104484|PMID:28150151|PMID:28166811|PMID:28183570|PMID:28202948|PMID:28262340|PMID:28265756|PMID:28301460|PMID:28316956|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28344931|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28567303|PMID:28589536|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28725320|PMID:28734073|PMID:28781330|PMID:28781849|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29121719|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29309564|PMID:29325976|PMID:29331327|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:29544605|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29652902|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29766885|PMID:29773157|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29915097|PMID:29956481|PMID:29961767|PMID:29997009|PMID:29998127|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30193851|PMID:30203441|PMID:30218094|PMID:30244407|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30371189|PMID:30385166|PMID:30419068|PMID:30476647|PMID:30497561|PMID:30532816|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30670673|PMID:30690642|PMID:30755392|PMID:30758498|PMID:30775854|PMID:30847666|PMID:30935997|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31020160|PMID:31032819|PMID:31043699|PMID:31130284|PMID:31191357|PMID:31231243|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31501239|PMID:31514951|PMID:31522937|PMID:31535183|PMID:31568572|PMID:31610692|PMID:31638414|PMID:31694554|PMID:31696929|PMID:31737537|PMID:31751991|PMID:31776209|PMID:31866066|PMID:31901299|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32055599|PMID:32091595|PMID:32096284|PMID:32145446|PMID:32153684|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32371921|PMID:32383558|PMID:32389048|PMID:32431610|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32508047|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32619740|PMID:32659924|PMID:32746448|PMID:32850980|PMID:32880476|PMID:32893267|PMID:32931854|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33258288|PMID:33338828|PMID:33500567|PMID:33535892|PMID:33712541|PMID:33764691|PMID:33789662|PMID:34019817|PMID:34021086|PMID:34092119|PMID:34122134|PMID:34135346|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34539730|PMID:34620408|PMID:34755423|PMID:34758253|PMID:34930020|PMID:34935411|PMID:35052356|PMID:35284542|PMID:35535697|PMID:35663620|PMID:36129056|PMID:36197721|PMID:3953067|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8661019|PMID:8663992|PMID:8917568|PMID:8972392|PMID:9521325|PMID:9536098|PMID:9716085 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9003163 Heart Block ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:10508990|PMID:10961955|PMID:10973849|PMID:17210839|PMID:17210841|PMID:17646591|PMID:18451998|PMID:19716085|PMID:19841300|PMID:22378279|PMID:22581653|PMID:22685113|PMID:23465283|PMID:24033266|PMID:24055113|PMID:24144883|PMID:24613995|PMID:24631775|PMID:25210526|PMID:25351510|PMID:25410959|PMID:25637381|PMID:25741868|PMID:25904541|PMID:26743238|PMID:26746457|PMID:26822237|PMID:28341588|PMID:28412158|PMID:28492532|PMID:28988457|PMID:29247119|PMID:29331327|PMID:29764897|PMID:29790872|PMID:30847666|PMID:31019283|PMID:31043699|PMID:32048431|PMID:34426522 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9003450 Nonprogressive Heart Block ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart block, nonprogressive PMID:10471492 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9003705 Sick Sinus Syndrome 1, Autosomal Recessive ISO RGD:731255 D RGD:7240710 20180130 OMIM 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9003705 Sick Sinus Syndrome 1, Autosomal Recessive ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: SINUS RHYTHM, CONGENITAL ABSENCE OF | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26680202|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26822237|PMID:26884609|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28412158|PMID:28416588|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31191357|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32323320|PMID:32371921|PMID:32431610|PMID:32470535|PMID:32533946|PMID:32746448|PMID:32850980|PMID:32880476|PMID:32893267|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34426522|PMID:34539730|PMID:34930020|PMID:8661019|PMID:9536098|PMID:9716085 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9003705 Sick Sinus Syndrome 1, Autosomal Recessive ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive PMID:10508990|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11222472|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15556047|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18809926|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20384651|PMID:20403459|PMID:20448214|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210526|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26214305 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9003705 Sick Sinus Syndrome 1, Autosomal Recessive ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive PMID:26220391|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26680202|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26822237|PMID:26884609|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31191357|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32323320|PMID:32371921|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32746448|PMID:32850980|PMID:32880476|PMID:32893267|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34539730|PMID:34930020|PMID:34935411|PMID:36129056|PMID:8661019|PMID:9536098|PMID:9716085 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9004416 Paroxysmal Ventricular Fibrillation ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation PMID:16453024|PMID:20110800|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10377081|PMID:10508990|PMID:10727653|PMID:10807545|PMID:10807547|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11823453|PMID:11901046|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12106943|PMID:12193783|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12650885|PMID:12695286|PMID:12820704|PMID:12877697|PMID:14500339|PMID:14687250|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14985827|PMID:14990510|PMID:15028074|PMID:15051636|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15466642|PMID:15579534|PMID:15599693|PMID:15689442|PMID:15840476|PMID:15851227|PMID:15992732|PMID:15996170|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16254012|PMID:16267253|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:16980337|PMID:17075016|PMID:17088455|PMID:17118339|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17275750|PMID:17438610|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17892895|PMID:17905336|PMID:17967976|PMID:17993325|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18508782|PMID:18752142|PMID:18929331|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19083750|PMID:19167345|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19406494|PMID:19411664|PMID:19412328|PMID:19606473|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20541041|PMID:20566482|PMID:20812931|PMID:20875080|PMID:21051419|PMID:21126620|PMID:21185501|PMID:21193062|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21498565|PMID:21621375|PMID:21622575|PMID:21911102|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22331908|PMID:22337857|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22581653|PMID:22685113|PMID:22705208|PMID:22721569|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22936642|PMID:22984773|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23158531|PMID:23174487|PMID:23321620|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23805106|PMID:23838598|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24332150|PMID:24349418|PMID:2437023|PMID:24573164|PMID:24596401|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24871449|PMID:24951663|PMID:25051102|PMID:25065297|PMID:25210526|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26125038|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26332594|PMID:26412604|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26803770|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27930701|PMID:28087622|PMID:28150151|PMID:28183995|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28492532|PMID:28494446|PMID:28567303|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29540853|PMID:29579189|PMID:29606593 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29956481|PMID:30059973|PMID:30079003|PMID:30193851|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30385166|PMID:30497561|PMID:30609406|PMID:30690642|PMID:30755392|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31231243|PMID:31262209|PMID:31447099|PMID:31501239|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32153684|PMID:32268277|PMID:32437023|PMID:32449611|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32746448|PMID:32893267|PMID:33131149|PMID:33221895|PMID:33338828|PMID:33712541|PMID:34135346|PMID:34379075|PMID:34426522|PMID:34758253|PMID:35052356|PMID:35535697|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9716085 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9005141 Ventricular Tachycardia ISO RGD:731255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:10807545|PMID:11901046|PMID:14967853|PMID:15176425|PMID:15851227|PMID:15992732|PMID:15996170|PMID:16379539|PMID:17210839|PMID:17210841|PMID:17587741|PMID:18378609|PMID:18426444|PMID:19027780|PMID:19412328|PMID:19632629|PMID:19841300|PMID:20129283|PMID:20636320|PMID:21109022|PMID:21167004|PMID:21705349|PMID:22378279|PMID:22581653|PMID:22677073|PMID:22685113|PMID:22840528|PMID:22995991|PMID:23299917|PMID:23414114|PMID:23465283|PMID:23571586|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24317018|PMID:24667783|PMID:24721456|PMID:24721642|PMID:25554238|PMID:25637381|PMID:25741868|PMID:26159999|PMID:26406308|PMID:26467025|PMID:26743238|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27711072|PMID:28087566|PMID:28341781|PMID:28492532|PMID:31043699|PMID:31918855 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9005444 Torsades de Pointes ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Torsades de pointes PMID:17161064|PMID:22581653|PMID:25741868|PMID:28492532|PMID:30079003 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9006030 Infant Death ISO RGD:731255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Death in infancy PMID:11901046|PMID:11997281|PMID:14753626|PMID:14760488|PMID:15840476|PMID:18071069|PMID:18708744|PMID:19716085|PMID:19841300|PMID:20129283|PMID:20486126|PMID:21167176|PMID:22378279|PMID:22426227|PMID:22581653|PMID:22840528|PMID:22984773|PMID:23414114|PMID:23631430|PMID:23805106|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24613995|PMID:24631775|PMID:24713084|PMID:24721456|PMID:24892747|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25904541|PMID:26159999|PMID:26332594|PMID:26467025|PMID:26538325|PMID:26669661|PMID:26746457|PMID:27153395|PMID:27435932|PMID:27930701|PMID:28412158|PMID:28492532|PMID:28794082|PMID:28798025|PMID:28988457|PMID:29728395|PMID:29874177|PMID:30079003|PMID:30153324|PMID:30193851|PMID:30847666|PMID:31262209|PMID:31737537|PMID:32516855|PMID:34021086 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9006508 Cardiac Conduction Defect, Nonprogressive ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac conduction defect, nonprogressive PMID:11234013|PMID:19251209|PMID:22581653 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9007 sudden infant death syndrome ISO RGD:731255 D RGD:7240710 20230505 OMIM 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9007 sudden infant death syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME | ClinVar Annotator: match by term: Sudden Infant Death PMID:10807545|PMID:10807547|PMID:10940383|PMID:10966831|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14985827|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15466642|PMID:15485686|PMID:15599693|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17438607|PMID:17438610|PMID:17605181|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17967976|PMID:17993325|PMID:18071069|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452873|PMID:18452875|PMID:18508782|PMID:18596570|PMID:18809926|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20038812|PMID:20129283|PMID:20384651|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21498565|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23299917|PMID:23321620|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23936059|PMID:23998552|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24332150|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24784157|PMID:24815523|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26111534|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26680202|PMID:26713557|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26916278|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27711072|PMID:27810048|PMID:27930701|PMID:28069705|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28600387 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9007 sudden infant death syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME | ClinVar Annotator: match by term: Sudden Infant Death PMID:28638671|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29396561|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29517769|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29884292|PMID:29895855|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30609406|PMID:30662450|PMID:30847666|PMID:30972196|PMID:31043699|PMID:31191357|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31737537|PMID:31866066|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32161207|PMID:32233023|PMID:32323320|PMID:32371921|PMID:32431610|PMID:32449611|PMID:32533946|PMID:32746448|PMID:32850980|PMID:32893267|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34539730|PMID:34930020|PMID:34935411|PMID:36129056|PMID:8661019|PMID:9716085 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:25741868 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9007820 Sudden Death ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:17210839|PMID:17210841|PMID:19716085|PMID:20129283|PMID:22581653|PMID:24033266|PMID:25741868|PMID:27332903|PMID:28492532|PMID:32533946 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9007925 Sudden Cardiac Death ISO RGD:731255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death PMID:15851227|PMID:16712702|PMID:18378609|PMID:18508782|PMID:19564561|PMID:19841300|PMID:19862833|PMID:20102864|PMID:20129283|PMID:22581653|PMID:22984773|PMID:23631430|PMID:23671135|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:25904541|PMID:26746457|PMID:27000522|PMID:28492532|PMID:30254039|PMID:30662450|PMID:32533946|PMID:32746448|PMID:32880476|PMID:33131149|PMID:33221895|PMID:34620408 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9008021 Familial Atrial Fibrillation 10 ISO RGD:731255 D RGD:7240710 20180130 OMIM 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9008021 Familial Atrial Fibrillation 10 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 10 PMID:10711933|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10966831|PMID:11076825|PMID:11123251|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14985827|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15266024|PMID:15466642|PMID:15466643|PMID:15579534|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998690|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16684018|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17438607|PMID:17438610|PMID:17605181|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452873|PMID:18452875|PMID:18508782|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19406494|PMID:19412328|PMID:19606473|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20129283|PMID:20384651|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22581653|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23299917|PMID:23321620|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23791817|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24332150|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26680202|PMID:26713557|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26916278|PMID:27077130|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27711072|PMID:27810048|PMID:27930701|PMID:28069705|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28391114|PMID:28438721 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9008021 Familial Atrial Fibrillation 10 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 10 PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29396561|PMID:29431662|PMID:29449639|PMID:29517769|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29579189|PMID:29672598|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29884292|PMID:29895855|PMID:29915097|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30609406|PMID:30662450|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32323320|PMID:32431610|PMID:32449611|PMID:32533946|PMID:32746448|PMID:32893267|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34930020|PMID:34935411|PMID:36129056|PMID:3953067|PMID:8661019|PMID:9716085 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:731255 D RGD:7240710 20180130 OMIM 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:10508990|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11222472|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15556047|PMID:15599693|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17438607|PMID:17438610|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26680202|PMID:26713557|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:26820365|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27077130|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30847666|PMID:30972196|PMID:31043699|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32323320|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32746448|PMID:32880476|PMID:32893267|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34930020|PMID:34935411|PMID:36129056|PMID:8661019|PMID:9536098|PMID:9716085 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9009094 Progressive Familial Heart Block Type I ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I | ClinVar Annotator: match by term: Heart block progressive familial type 1 PMID:10471492|PMID:10508990|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11222472|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15556047|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17438607|PMID:17438610|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26680202|PMID:26713557|PMID:26743238 12161976 SCN5A sodium voltage-gated channel alpha subunit 5 gene DOID:9009094 Progressive Familial Heart Block Type I ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I | ClinVar Annotator: match by term: Heart block progressive familial type 1 PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27077130|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30847666|PMID:30972196|PMID:31043699|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32323320|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32746448|PMID:32880476|PMID:32893267|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34930020|PMID:34935411|PMID:36129056|PMID:8661019|PMID:9536098|PMID:9716085 12162018 NOS2 nitric oxide synthase 2 gene DOID:0050152 aspiration pneumonia ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15607125 12162018 NOS2 nitric oxide synthase 2 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10620138 12162018 NOS2 nitric oxide synthase 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:colon (rat) PMID:21958875|REF_RGD_ID:5508753 12162018 NOS2 nitric oxide synthase 2 gene DOID:0050848 obstructive sleep apnea ISO RGD:730951 D RGD:9068941 20200609 RGD associated with obesity; protein:increased expression:sputum PMID:18098375|REF_RGD_ID:4891935 12162018 NOS2 nitric oxide synthase 2 gene DOID:0050848 obstructive sleep apnea severity ISO RGD:730951 D RGD:9068941 20200609 RGD protein:decreased expression, decreased phosphorylation:endothelial cell PMID:18413499|REF_RGD_ID:4891909 12162018 NOS2 nitric oxide synthase 2 gene DOID:0060001 withdrawal disorder ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19751225 12162018 NOS2 nitric oxide synthase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:730951 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12162018 NOS2 nitric oxide synthase 2 gene DOID:0060180 colitis ISO RGD:10996 D RGD:9068941 20200609 RGD mRNA:increased expression:colon (mouse) PMID:21930116|REF_RGD_ID:5509045 12162018 NOS2 nitric oxide synthase 2 gene DOID:0060180 colitis ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:16866779|REF_RGD_ID:4891411 12162018 NOS2 nitric oxide synthase 2 gene DOID:0060180 colitis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17449036|PMID:8698225 12162018 NOS2 nitric oxide synthase 2 gene DOID:0060496 respiratory allergy ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:19800904|REF_RGD_ID:4891497 12162018 NOS2 nitric oxide synthase 2 gene DOID:0060496 respiratory allergy treatment ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:21983654|REF_RGD_ID:8549812 12162018 NOS2 nitric oxide synthase 2 gene DOID:0080178 mucositis ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:jejunum (rat) PMID:21846355|REF_RGD_ID:5509078 12162018 NOS2 nitric oxide synthase 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:10996 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (mouse) PMID:21948338|REF_RGD_ID:5509578 12162018 NOS2 nitric oxide synthase 2 gene DOID:0080784 urinary tract infection ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9011564 12162018 NOS2 nitric oxide synthase 2 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased enzyme activity:pancreas PMID:15257108|REF_RGD_ID:2325241 12162018 NOS2 nitric oxide synthase 2 gene DOID:0081292 traumatic brain injury ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28642177 12162018 NOS2 nitric oxide synthase 2 gene DOID:10112 sleeping sickness ISO RGD:3185 D RGD:9068941 20200609 RGD protein:altered activity:brain, peritoneal macrophage PMID:20169057|REF_RGD_ID:4891375 12162018 NOS2 nitric oxide synthase 2 gene DOID:10247 pleurisy ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:20141620|REF_RGD_ID:4142808 12162018 NOS2 nitric oxide synthase 2 gene DOID:10247 pleurisy ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:pleural cavity (rat) PMID:21898269|REF_RGD_ID:7175307 12162018 NOS2 nitric oxide synthase 2 gene DOID:10320 asbestosis ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:12160931|REF_RGD_ID:4891441 12162018 NOS2 nitric oxide synthase 2 gene DOID:10320 asbestosis ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung PMID:12051993|REF_RGD_ID:4891438 12162018 NOS2 nitric oxide synthase 2 gene DOID:10320 asbestosis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12160931 12162018 NOS2 nitric oxide synthase 2 gene DOID:10325 silicosis ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:15205031|REF_RGD_ID:4891445 12162018 NOS2 nitric oxide synthase 2 gene DOID:10325 silicosis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292275 12162018 NOS2 nitric oxide synthase 2 gene DOID:10652 Alzheimer's disease ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:16908860|REF_RGD_ID:5508721 12162018 NOS2 nitric oxide synthase 2 gene DOID:10652 Alzheimer's disease ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:21163295|REF_RGD_ID:4891161 12162018 NOS2 nitric oxide synthase 2 gene DOID:10652 Alzheimer's disease ISO RGD:730951 D RGD:9068941 20200609 RGD PMID:12384247|REF_RGD_ID:13824978 12162018 NOS2 nitric oxide synthase 2 gene DOID:1073 renal hypertension ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:20360752|REF_RGD_ID:4891374 12162018 NOS2 nitric oxide synthase 2 gene DOID:10754 otitis media ISO RGD:3185 D RGD:9068941 20200609 RGD associated with Haemophilus Infections; mRNA, protein:increased expression:middle ear PMID:18524391|REF_RGD_ID:4891398 12162018 NOS2 nitric oxide synthase 2 gene DOID:10763 hypertension ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:kidney PMID:15773227|REF_RGD_ID:1580264 12162018 NOS2 nitric oxide synthase 2 gene DOID:10763 hypertension ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18605955|PMID:25101153|PMID:27292124 12162018 NOS2 nitric oxide synthase 2 gene DOID:10763 hypertension ISO RGD:730951 D RGD:9068941 20200609 RGD PMID:11702222|REF_RGD_ID:1298023 12162018 NOS2 nitric oxide synthase 2 gene DOID:10808 gastric ulcer ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12481160|PMID:15138204|PMID:19066340 12162018 NOS2 nitric oxide synthase 2 gene DOID:11044 gastroschisis ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:intestine (rat) PMID:21960425|REF_RGD_ID:5508749 12162018 NOS2 nitric oxide synthase 2 gene DOID:11339 pneumocystosis ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA:increased expression:alveolar macrophage PMID:20377877|REF_RGD_ID:4144112 12162018 NOS2 nitric oxide synthase 2 gene DOID:11339 pneumocystosis ISO RGD:3185 D RGD:9068941 20200609 RGD protein:decreased dimerization:alveolar macrophage PMID:20558778|REF_RGD_ID:4891486 12162018 NOS2 nitric oxide synthase 2 gene DOID:11396 pulmonary edema ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:alveolus PMID:16256382|REF_RGD_ID:4891463 12162018 NOS2 nitric oxide synthase 2 gene DOID:11396 pulmonary edema ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:14767587|REF_RGD_ID:5132626 12162018 NOS2 nitric oxide synthase 2 gene DOID:11713 diabetic angiopathy ISO RGD:3185 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19587355|REF_RGD_ID:2313210 12162018 NOS2 nitric oxide synthase 2 gene DOID:11713 diabetic angiopathy ISO RGD:3185 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:cochlea PMID:19241604|REF_RGD_ID:4891384 12162018 NOS2 nitric oxide synthase 2 gene DOID:1176 bronchial disease ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15774269 12162018 NOS2 nitric oxide synthase 2 gene DOID:12217 Lewy body dementia ISO RGD:730951 D RGD:9068941 20200609 RGD PMID:10674474|REF_RGD_ID:1358529 12162018 NOS2 nitric oxide synthase 2 gene DOID:12236 primary biliary cholangitis ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:brain (rat) PMID:21903766|REF_RGD_ID:5509055 12162018 NOS2 nitric oxide synthase 2 gene DOID:12236 primary biliary cholangitis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12162018 NOS2 nitric oxide synthase 2 gene DOID:12365 malaria ISO RGD:730951 D RGD:7240710 20230505 OMIM 12162018 NOS2 nitric oxide synthase 2 gene DOID:12365 malaria ISO RGD:730951 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malaria, resistance to | ClinVar Annotator: match by term: Malaria, severe, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to PMID:12433515|PMID:31995689|PMID:9457101 12162018 NOS2 nitric oxide synthase 2 gene DOID:12849 autistic disorder ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18563708 12162018 NOS2 nitric oxide synthase 2 gene DOID:13025 retinopathy of prematurity ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:23204802|REF_RGD_ID:7257667 12162018 NOS2 nitric oxide synthase 2 gene DOID:1307 dementia ISO RGD:730951 D RGD:9068941 20200609 RGD PMID:10674474|REF_RGD_ID:1358529 12162018 NOS2 nitric oxide synthase 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16191423 12162018 NOS2 nitric oxide synthase 2 gene DOID:13141 uveitis ISO RGD:10996 D RGD:9068941 20200609 RGD protein:increased expression:eye (mouse) PMID:21911582|REF_RGD_ID:5509582 12162018 NOS2 nitric oxide synthase 2 gene DOID:13406 pulmonary sarcoidosis ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11789718|REF_RGD_ID:4891449 12162018 NOS2 nitric oxide synthase 2 gene DOID:13413 hepatic encephalopathy ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19763802|REF_RGD_ID:5132590 12162018 NOS2 nitric oxide synthase 2 gene DOID:13548 secondary Parkinson disease ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25634431 12162018 NOS2 nitric oxide synthase 2 gene DOID:13580 cholestasis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12612912|PMID:20626112 12162018 NOS2 nitric oxide synthase 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12162018 NOS2 nitric oxide synthase 2 gene DOID:13949 interstitial cystitis ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:bladder PMID:21179332|REF_RGD_ID:4891153 12162018 NOS2 nitric oxide synthase 2 gene DOID:1407 anterior uveitis ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:eye (rat) PMID:21976127|REF_RGD_ID:5508734 12162018 NOS2 nitric oxide synthase 2 gene DOID:14115 toxic shock syndrome ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:16601845|REF_RGD_ID:1580268 12162018 NOS2 nitric oxide synthase 2 gene DOID:14115 toxic shock syndrome ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8745224 12162018 NOS2 nitric oxide synthase 2 gene DOID:14268 sclerosing cholangitis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12612912 12162018 NOS2 nitric oxide synthase 2 gene DOID:14323 Marfan syndrome ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 12162018 NOS2 nitric oxide synthase 2 gene DOID:14330 Parkinson's disease ISO RGD:10996 D RGD:9068941 20200609 RGD protein:increased expression:striatum (mouse) PMID:21970803|REF_RGD_ID:5509573 12162018 NOS2 nitric oxide synthase 2 gene DOID:1459 hypothyroidism ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:cerebral cortex PMID:21196918|REF_RGD_ID:4891143 12162018 NOS2 nitric oxide synthase 2 gene DOID:1485 cystic fibrosis ISO RGD:730951 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:respiratory mucosa PMID:16517573|REF_RGD_ID:4891958 12162018 NOS2 nitric oxide synthase 2 gene DOID:1724 duodenal ulcer ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12481160|PMID:17045617 12162018 NOS2 nitric oxide synthase 2 gene DOID:1793 pancreatic cancer ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:15165031|REF_RGD_ID:2325248 12162018 NOS2 nitric oxide synthase 2 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:11196200|PMID:11687972|REF_RGD_ID:2325257|REF_RGD_ID:2325262 12162018 NOS2 nitric oxide synthase 2 gene DOID:1824 status epilepticus ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20149694 12162018 NOS2 nitric oxide synthase 2 gene DOID:1875 impotence ISO RGD:3185 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:penis PMID:19554009|REF_RGD_ID:2313212 12162018 NOS2 nitric oxide synthase 2 gene DOID:1936 atherosclerosis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20720404 12162018 NOS2 nitric oxide synthase 2 gene DOID:2237 hepatitis ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:21913985|REF_RGD_ID:6906896 12162018 NOS2 nitric oxide synthase 2 gene DOID:2316 brain ischemia ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17394460|PMID:9778187 12162018 NOS2 nitric oxide synthase 2 gene DOID:234 colon adenocarcinoma ISO RGD:730951 D RGD:9068941 20220826 RGD protein:increased expression:colon (human) PMID:22419013|REF_RGD_ID:153344572 12162018 NOS2 nitric oxide synthase 2 gene DOID:2508 Takayasu's arteritis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 12162018 NOS2 nitric oxide synthase 2 gene DOID:2799 bronchiolitis obliterans ISO RGD:730951 D RGD:9068941 20200609 RGD associated with lung transplantation; protein:increased expression:lung PMID:11112135|REF_RGD_ID:4892082 12162018 NOS2 nitric oxide synthase 2 gene DOID:2841 asthma ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:16540403|REF_RGD_ID:4891957 12162018 NOS2 nitric oxide synthase 2 gene DOID:2841 asthma ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:lung (rat) PMID:21847581|REF_RGD_ID:5509073 12162018 NOS2 nitric oxide synthase 2 gene DOID:2841 asthma ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19800904 12162018 NOS2 nitric oxide synthase 2 gene DOID:2841 asthma ISO RGD:730951 D RGD:9068941 20200609 RGD DNA:repeats:promoter PMID:18714530|REF_RGD_ID:4891508 12162018 NOS2 nitric oxide synthase 2 gene DOID:2841 asthma ISO RGD:730951 D RGD:9068941 20200609 RGD associated with Rhinitis, Allergic, Seasonal; protein:increased expression:nasal mucosa PMID:18254476|REF_RGD_ID:4891910 12162018 NOS2 nitric oxide synthase 2 gene DOID:2841 asthma ISO RGD:730951 D RGD:9068941 20200609 RGD mRNA:increased expression:monocyte PMID:20842520|REF_RGD_ID:4891419 12162018 NOS2 nitric oxide synthase 2 gene DOID:2841 asthma disease_progression ISO RGD:10996 D RGD:9068941 20200609 RGD protein:increased expression:lung, bronchoalveolar lavage fluid PMID:17161822|REF_RGD_ID:4891927 12162018 NOS2 nitric oxide synthase 2 gene DOID:2841 asthma no_association ISO RGD:730951 D RGD:9068941 20200609 RGD DNA:repeat:promoter PMID:16703578|REF_RGD_ID:4891953 12162018 NOS2 nitric oxide synthase 2 gene DOID:2841 asthma severity ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:20841959|REF_RGD_ID:4891480 12162018 NOS2 nitric oxide synthase 2 gene DOID:2841 asthma severity ISO RGD:730951 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.S608L (human) PMID:17177683|REF_RGD_ID:4891925 12162018 NOS2 nitric oxide synthase 2 gene DOID:2841 asthma severity ISO RGD:730951 D RGD:9068941 20200609 RGD DNA:repeats:promoter, introns (human) PMID:17189532|REF_RGD_ID:4891924 12162018 NOS2 nitric oxide synthase 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:730951 D RGD:9068941 20200609 RGD DNA:SNPs:multiple (human) PMID:19575238|REF_RGD_ID:4144122 12162018 NOS2 nitric oxide synthase 2 gene DOID:3021 acute kidney failure ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9810145 12162018 NOS2 nitric oxide synthase 2 gene DOID:3082 interstitial lung disease ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11789718|REF_RGD_ID:4891449 12162018 NOS2 nitric oxide synthase 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21843929 12162018 NOS2 nitric oxide synthase 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:12797490|REF_RGD_ID:4891444 12162018 NOS2 nitric oxide synthase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:10996 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (mouse) PMID:21867702|REF_RGD_ID:5509065 12162018 NOS2 nitric oxide synthase 2 gene DOID:3393 coronary artery disease ISO RGD:730951 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome; protein:increased expression:neutrophil, monocyte PMID:14764920|REF_RGD_ID:1580941 12162018 NOS2 nitric oxide synthase 2 gene DOID:3491 Turner syndrome ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 12162018 NOS2 nitric oxide synthase 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:10996 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (mouse) PMID:22020035|REF_RGD_ID:5509037 12162018 NOS2 nitric oxide synthase 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:21959178|REF_RGD_ID:5508751 12162018 NOS2 nitric oxide synthase 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:12660813|REF_RGD_ID:2325254 12162018 NOS2 nitric oxide synthase 2 gene DOID:3770 pulmonary fibrosis ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:20668217|REF_RGD_ID:4891482 12162018 NOS2 nitric oxide synthase 2 gene DOID:409 liver disease ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12162018 NOS2 nitric oxide synthase 2 gene DOID:4483 rhinitis ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa PMID:18254476|REF_RGD_ID:4891910 12162018 NOS2 nitric oxide synthase 2 gene DOID:4676 uremia ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:21957179|REF_RGD_ID:5508758 12162018 NOS2 nitric oxide synthase 2 gene DOID:4724 brain edema ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19374494 12162018 NOS2 nitric oxide synthase 2 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:21894146|REF_RGD_ID:6218988 12162018 NOS2 nitric oxide synthase 2 gene DOID:4947 cholangiocarcinoma ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16818635 12162018 NOS2 nitric oxide synthase 2 gene DOID:4947 cholangiocarcinoma ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:16094703|REF_RGD_ID:2325280 12162018 NOS2 nitric oxide synthase 2 gene DOID:5199 ureteral obstruction ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26207612 12162018 NOS2 nitric oxide synthase 2 gene DOID:5295 intestinal disease ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11713966 12162018 NOS2 nitric oxide synthase 2 gene DOID:557 kidney disease ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18441258 12162018 NOS2 nitric oxide synthase 2 gene DOID:5679 retinal disease ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 12162018 NOS2 nitric oxide synthase 2 gene DOID:5844 myocardial infarction ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10090345|PMID:11489778 12162018 NOS2 nitric oxide synthase 2 gene DOID:6000 congestive heart failure ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19168511 12162018 NOS2 nitric oxide synthase 2 gene DOID:607 paraplegia ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:Lumbar segment of spinal cord, bone marrow-derived macrophage (rat) PMID:21959174|REF_RGD_ID:5509577 12162018 NOS2 nitric oxide synthase 2 gene DOID:630 genetic disease ISO RGD:730951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162018 NOS2 nitric oxide synthase 2 gene DOID:6432 pulmonary hypertension ISO RGD:10996 D RGD:9068941 20200609 RGD associated with Anoxia; mouse gene in rat model PMID:11104748|REF_RGD_ID:4891468 12162018 NOS2 nitric oxide synthase 2 gene DOID:6432 pulmonary hypertension ISO RGD:730951 D RGD:9068941 20200609 RGD associated with Congenital diaphragmatic hernia; protein:decreased expression:pulmonary artery, endothelium PMID:16456243|REF_RGD_ID:1580940 12162018 NOS2 nitric oxide synthase 2 gene DOID:6432 pulmonary hypertension ISO RGD:730951 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic; DNA:repeats, SNPs:promoter:(CCTTT), c.-1026C>T, c.-277A>G (human) PMID:16813666|REF_RGD_ID:4891462 12162018 NOS2 nitric oxide synthase 2 gene DOID:6432 pulmonary hypertension ISO RGD:730951 D RGD:9068941 20200609 RGD associated with heart disease; protein:increased expression:endothelial cell PMID:19912632|REF_RGD_ID:5132602 12162018 NOS2 nitric oxide synthase 2 gene DOID:6432 pulmonary hypertension onset ISO RGD:3185 D RGD:9068941 20200609 RGD associated with Anoxia; protein:increased expression:pulmonary artery PMID:16113050|REF_RGD_ID:1580936 12162018 NOS2 nitric oxide synthase 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:3185 D RGD:9068941 20220520 RGD PMID:25999787|REF_RGD_ID:152177911 12162018 NOS2 nitric oxide synthase 2 gene DOID:700 mitochondrial metabolism disease ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16157314 12162018 NOS2 nitric oxide synthase 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:aorta tunica media PMID:15800493|REF_RGD_ID:1580261 12162018 NOS2 nitric oxide synthase 2 gene DOID:841 extrinsic allergic alveolitis ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11789718|REF_RGD_ID:4891449 12162018 NOS2 nitric oxide synthase 2 gene DOID:850 lung disease ISO RGD:10996 D RGD:9068941 20200609 RGD lung injury associated with hyperoxia PMID:20497690|REF_RGD_ID:4891426 12162018 NOS2 nitric oxide synthase 2 gene DOID:850 lung disease ISO RGD:3185 D RGD:9068941 20200609 RGD acute lung injury associated with endotoxemia PMID:17324147|REF_RGD_ID:4891465 12162018 NOS2 nitric oxide synthase 2 gene DOID:850 lung disease ISO RGD:3185 D RGD:9068941 20200609 RGD associated with Granuloma; protein:increased expression:lung PMID:8952535|REF_RGD_ID:4891457 12162018 NOS2 nitric oxide synthase 2 gene DOID:850 lung disease ISO RGD:3185 D RGD:9068941 20200609 RGD associated with Hypertension, Portal; mRNA,protein:increased expression:lung PMID:11258566|REF_RGD_ID:4891454 12162018 NOS2 nitric oxide synthase 2 gene DOID:850 lung disease ISO RGD:3185 D RGD:9068941 20200609 RGD lung injury associated with Pancreatitis, Acute Necrotizing; mRNA:increased expression:lung PMID:20144956|REF_RGD_ID:4891432 12162018 NOS2 nitric oxide synthase 2 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923197 12162018 NOS2 nitric oxide synthase 2 gene DOID:8893 psoriasis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953189 12162018 NOS2 nitric oxide synthase 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:730951 D RGD:9068941 20200609 RGD associated with Gallbladder Diseases; protein:decreased expression:gllbladder PMID:14704000|REF_RGD_ID:2325251 12162018 NOS2 nitric oxide synthase 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:gallbladder PMID:14991947|REF_RGD_ID:2325250 12162018 NOS2 nitric oxide synthase 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA:altered expression:thoracic aorta PMID:17287083|REF_RGD_ID:4891407 12162018 NOS2 nitric oxide synthase 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15264214 12162018 NOS2 nitric oxide synthase 2 gene DOID:9000169 Systemic Inflammatory Response Syndrome ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:ileum, liver (rat) PMID:21975127|REF_RGD_ID:5508740 12162018 NOS2 nitric oxide synthase 2 gene DOID:9000197 Edema ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased activity:serum (rat) PMID:22019508|REF_RGD_ID:5509038 12162018 NOS2 nitric oxide synthase 2 gene DOID:9000304 Manganese Poisoning ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15010209|PMID:22174044 12162018 NOS2 nitric oxide synthase 2 gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:3185 D RGD:9068941 20200609 RGD protein:Increased expression:kidney:neutrophil, endothelial cell, kidney: PMID:10908153|REF_RGD_ID:11533936 12162018 NOS2 nitric oxide synthase 2 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:10996 D RGD:9068941 20200609 RGD mRNA:increased expression:brainstem, basilar artery (mouse) PMID:21915076|REF_RGD_ID:5509046 12162018 NOS2 nitric oxide synthase 2 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17053178 12162018 NOS2 nitric oxide synthase 2 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:3185 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:17607157|REF_RGD_ID:4891947 12162018 NOS2 nitric oxide synthase 2 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:3185 D RGD:9068941 20200609 RGD associated with reperfusion injury; mRNA:increased expression:lung PMID:20430162|REF_RGD_ID:4891490 12162018 NOS2 nitric oxide synthase 2 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:lung, respiratory tract PMID:11076311|REF_RGD_ID:4892083 12162018 NOS2 nitric oxide synthase 2 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19286931|REF_RGD_ID:5132864 12162018 NOS2 nitric oxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:10996 D RGD:9068941 20200609 RGD associated with Carcinoma, Pancreatic Ductal PMID:12660813|REF_RGD_ID:2325254 12162018 NOS2 nitric oxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730951 D RGD:9068941 20200609 RGD associated with Carcinoma, Pancreatic Ductal; protein:increased expression:pancreas PMID:15222037|REF_RGD_ID:2325242 12162018 NOS2 nitric oxide synthase 2 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:730951 D RGD:9068941 20200609 RGD associated with Gallbladder Neoplasms: protein:increased expression:gallbladder PMID:14991947|REF_RGD_ID:2325250 12162018 NOS2 nitric oxide synthase 2 gene DOID:9000998 Brain Injuries ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:11526986|REF_RGD_ID:10395358 12162018 NOS2 nitric oxide synthase 2 gene DOID:9001472 Nasal Polyps ISO RGD:730951 D RGD:9068941 20200609 RGD DNA:repeats:promoter PMID:18714530|REF_RGD_ID:4891508 12162018 NOS2 nitric oxide synthase 2 gene DOID:9001472 Nasal Polyps ISO RGD:730951 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal mucosa PMID:20554417|REF_RGD_ID:5509597 12162018 NOS2 nitric oxide synthase 2 gene DOID:9001488 Human Influenza ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:17030871|REF_RGD_ID:4891952 12162018 NOS2 nitric oxide synthase 2 gene DOID:9001488 Human Influenza ISO RGD:10996 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain PMID:18080188|REF_RGD_ID:4891937 12162018 NOS2 nitric oxide synthase 2 gene DOID:9001488 Human Influenza ISO RGD:10996 D RGD:9068941 20200609 RGD mRNA:increased expression:olfactory epithelium PMID:17674769|REF_RGD_ID:4891919 12162018 NOS2 nitric oxide synthase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:10353629|REF_RGD_ID:2325278 12162018 NOS2 nitric oxide synthase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:10784593|REF_RGD_ID:2325265 12162018 NOS2 nitric oxide synthase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18380797 12162018 NOS2 nitric oxide synthase 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:10383909|REF_RGD_ID:2325277 12162018 NOS2 nitric oxide synthase 2 gene DOID:9001708 Hemorrhagic Shock ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:multiple PMID:15854664|REF_RGD_ID:1580937 12162018 NOS2 nitric oxide synthase 2 gene DOID:9001984 Fetal Diseases ISO RGD:10996 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19283362|REF_RGD_ID:2313217 12162018 NOS2 nitric oxide synthase 2 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:17056580|REF_RGD_ID:4891950 12162018 NOS2 nitric oxide synthase 2 gene DOID:9002211 Hyperalgesia ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17989504|PMID:19300402 12162018 NOS2 nitric oxide synthase 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3185 D RGD:9068941 20200609 RGD associated with hyperinsulinemia; protein:increased expression:placenta PMID:19709742|REF_RGD_ID:5132592 12162018 NOS2 nitric oxide synthase 2 gene DOID:9002395 Hypothermia ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24675228 12162018 NOS2 nitric oxide synthase 2 gene DOID:9002457 Experimental Arthritis ISO RGD:10996 D RGD:9068941 20200609 RGD protein:increased expression:ankle joint (mouse) PMID:21880869|REF_RGD_ID:5509060 12162018 NOS2 nitric oxide synthase 2 gene DOID:9002457 Experimental Arthritis ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:12826065|REF_RGD_ID:1358527 12162018 NOS2 nitric oxide synthase 2 gene DOID:9002467 Mycoplasma Infections ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20179380 12162018 NOS2 nitric oxide synthase 2 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19587355 12162018 NOS2 nitric oxide synthase 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:21857957|REF_RGD_ID:5509069 12162018 NOS2 nitric oxide synthase 2 gene DOID:9002869 Schistosomiasis Mansoni ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9673227 12162018 NOS2 nitric oxide synthase 2 gene DOID:9002884 Emphysema ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24465666 12162018 NOS2 nitric oxide synthase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16105666|PMID:21081470 12162018 NOS2 nitric oxide synthase 2 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:10996 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa PMID:14587983|REF_RGD_ID:4892078 12162018 NOS2 nitric oxide synthase 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23694759 12162018 NOS2 nitric oxide synthase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:10996 D RGD:9068941 20200609 RGD protein:increased expression:venule, arteriole, endothelium (mouse) PMID:22019501|REF_RGD_ID:5509100 12162018 NOS2 nitric oxide synthase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:14599979|REF_RGD_ID:1580938 12162018 NOS2 nitric oxide synthase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11592783|REF_RGD_ID:2325259 12162018 NOS2 nitric oxide synthase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10383581|PMID:19673871|PMID:23061969|PMID:23075401 12162018 NOS2 nitric oxide synthase 2 gene DOID:9004250 Hepatic Insufficiency ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12162018 NOS2 nitric oxide synthase 2 gene DOID:9004484 Sepsis ISO RGD:10996 D RGD:9068941 20200609 RGD associated with lung injury PMID:21184738|REF_RGD_ID:4891414 12162018 NOS2 nitric oxide synthase 2 gene DOID:9004484 Sepsis ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:15665729|REF_RGD_ID:5147745 12162018 NOS2 nitric oxide synthase 2 gene DOID:9004484 Sepsis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17138957|PMID:20035746 12162018 NOS2 nitric oxide synthase 2 gene DOID:9004590 Acute Liver Failure ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:22001939|REF_RGD_ID:5509102 12162018 NOS2 nitric oxide synthase 2 gene DOID:9004610 Acute Lung Injury ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:16882535|REF_RGD_ID:5147744 12162018 NOS2 nitric oxide synthase 2 gene DOID:9005172 Lung Neoplasms ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12460898|PMID:22369883 12162018 NOS2 nitric oxide synthase 2 gene DOID:9005369 Hepatomegaly ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12162018 NOS2 nitric oxide synthase 2 gene DOID:9005372 Inflammation ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11289658|PMID:24465666 12162018 NOS2 nitric oxide synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3185 D RGD:9068941 20200609 RGD associated with Infarction, Middle Cerebral Artery; protein:increased expression:brain (rat) PMID:21993016|REF_RGD_ID:5509105 12162018 NOS2 nitric oxide synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16380483|PMID:16959961 12162018 NOS2 nitric oxide synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus no_association ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus (rat) PMID:9349594|REF_RGD_ID:5509107 12162018 NOS2 nitric oxide synthase 2 gene DOID:9005724 Fungal Lung Diseases ISO RGD:3185 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:10639453|REF_RGD_ID:4891455 12162018 NOS2 nitric oxide synthase 2 gene DOID:9005749 Necrosis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10620138|PMID:10909967 12162018 NOS2 nitric oxide synthase 2 gene DOID:9005930 Endotoxemia ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:20519137|REF_RGD_ID:5147779 12162018 NOS2 nitric oxide synthase 2 gene DOID:9005930 Endotoxemia ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:intestine PMID:16787348|REF_RGD_ID:4891470 12162018 NOS2 nitric oxide synthase 2 gene DOID:9005930 Endotoxemia ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12620498 12162018 NOS2 nitric oxide synthase 2 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:nerve root, leukocyte, Schwann cell (rat) PMID:15144861|REF_RGD_ID:1580265 12162018 NOS2 nitric oxide synthase 2 gene DOID:9006741 Acute Hepatitis ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:21913985|REF_RGD_ID:6906896 12162018 NOS2 nitric oxide synthase 2 gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:730951 D RGD:9068941 20200609 RGD DNA:SNP: :rs1060826(human) PMID:17703412|REF_RGD_ID:4889847 12162018 NOS2 nitric oxide synthase 2 gene DOID:9007096 Stroke ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:21171972|REF_RGD_ID:4891154 12162018 NOS2 nitric oxide synthase 2 gene DOID:9007096 Stroke ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20083630 12162018 NOS2 nitric oxide synthase 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14700523 12162018 NOS2 nitric oxide synthase 2 gene DOID:9007651 Chronic Bronchitis ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:19938219|REF_RGD_ID:4891494 12162018 NOS2 nitric oxide synthase 2 gene DOID:9007692 Insulin Resistance ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:21846719|REF_RGD_ID:5509075 12162018 NOS2 nitric oxide synthase 2 gene DOID:9007692 Insulin Resistance ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retroperitoneum, adipose tissue (rat) PMID:22023455|REF_RGD_ID:5509041 12162018 NOS2 nitric oxide synthase 2 gene DOID:9007730 Burns ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15650120 12162018 NOS2 nitric oxide synthase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart (rat) PMID:21844074|REF_RGD_ID:5509098 12162018 NOS2 nitric oxide synthase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12003803|PMID:12087064|PMID:14990356|PMID:19207477|PMID:20828608 12162018 NOS2 nitric oxide synthase 2 gene DOID:9008 psoriatic arthritis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953189 12162018 NOS2 nitric oxide synthase 2 gene DOID:9008510 Chronic Hepatitis ISO RGD:10996 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (mouse) PMID:21947361|REF_RGD_ID:5509580 12162018 NOS2 nitric oxide synthase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15631943 12162018 NOS2 nitric oxide synthase 2 gene DOID:9009039 Hyperemia ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12646421 12162018 NOS2 nitric oxide synthase 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:10996 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow macrophage (mouse) PMID:22011580|REF_RGD_ID:5508848 12162018 NOS2 nitric oxide synthase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:10996 D RGD:9068941 20200609 RGD protein:increased expression:liver (mouse) PMID:21963495|REF_RGD_ID:5508747 12162018 NOS2 nitric oxide synthase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18773271|REF_RGD_ID:2313220 12162018 NOS2 nitric oxide synthase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16959961 12162018 NOS2 nitric oxide synthase 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:730951 D RGD:9068941 20200609 RGD DNA:insertion/deletion, repeat:promoter (human) PMID:19395279|REF_RGD_ID:2312484 12162018 NOS2 nitric oxide synthase 2 gene DOID:9498 pulmonary eosinophilia ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:18829681|REF_RGD_ID:4891506 12162018 NOS2 nitric oxide synthase 2 gene DOID:9675 pulmonary emphysema ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:22000010|REF_RGD_ID:5509103 12162018 NOS2 nitric oxide synthase 2 gene DOID:9675 pulmonary emphysema ISO RGD:10996 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung PMID:20956973|REF_RGD_ID:4891415 12162018 NOS2 nitric oxide synthase 2 gene DOID:9675 pulmonary emphysema ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20472710|REF_RGD_ID:4891488 12162018 NOS2 nitric oxide synthase 2 gene DOID:9743 diabetic neuropathy ISO RGD:10996 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18802679|REF_RGD_ID:2313218 12162018 NOS2 nitric oxide synthase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:19535454|REF_RGD_ID:2313214 12162018 NOS2 nitric oxide synthase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:10996 D RGD:9068941 20220825 MouseDO OMIM:222100 12162018 NOS2 nitric oxide synthase 2 gene DOID:9767 myocardial stunning ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11927517 12162018 NOS2 nitric oxide synthase 2 gene DOID:9970 obesity ISO RGD:10996 D RGD:9068941 20200609 RGD protein:increased expression:liver, gastrocnemius muscle, adipose tissue (mouse) PMID:21896669|REF_RGD_ID:5509059 12162018 NOS2 nitric oxide synthase 2 gene DOID:9970 obesity ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:18098375|REF_RGD_ID:4891935 12162056 ZP4 zona pellucida glycoprotein 4 gene DOID:10283 prostate cancer ISO RGD:1345250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12162056 ZP4 zona pellucida glycoprotein 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1345250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12162056 ZP4 zona pellucida glycoprotein 4 gene DOID:630 genetic disease ISO RGD:1345250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162056 ZP4 zona pellucida glycoprotein 4 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1345250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 12162056 ZP4 zona pellucida glycoprotein 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12162071 MOB3B MOB kinase activator 3B gene DOID:630 genetic disease ISO RGD:1346999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162078 CCHCR1 coiled-coil alpha-helical rod protein 1 gene DOID:0050553 JMP syndrome ISO RGD:1344859 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12162078 CCHCR1 coiled-coil alpha-helical rod protein 1 gene DOID:11372 megacolon ISO RGD:1344859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12162078 CCHCR1 coiled-coil alpha-helical rod protein 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1344859 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29379198 12162078 CCHCR1 coiled-coil alpha-helical rod protein 1 gene DOID:630 genetic disease ISO RGD:1344859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162078 CCHCR1 coiled-coil alpha-helical rod protein 1 gene DOID:670 amphetamine abuse ISO RGD:1344859 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12162078 CCHCR1 coiled-coil alpha-helical rod protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344859 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21743467 12162078 CCHCR1 coiled-coil alpha-helical rod protein 1 gene DOID:986 alopecia areata ISO RGD:1617323 D RGD:9068941 20220825 MouseDO OMIM:104000 | OMIM:610753 12162120 MFSD2A MFSD2 lysolipid transporter A, lysophospholipid gene DOID:0070277 primary autosomal recessive microcephaly 15 ISO RGD:1606200 D RGD:7240710 20180130 OMIM 12162120 MFSD2A MFSD2 lysolipid transporter A, lysophospholipid gene DOID:0070277 primary autosomal recessive microcephaly 15 ISO RGD:1606200 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microcephaly 15, primary, autosomal recessive PMID:25741868|PMID:26005865|PMID:26005868|PMID:28492532|PMID:30043326|PMID:32572202 12162120 MFSD2A MFSD2 lysolipid transporter A, lysophospholipid gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12162120 MFSD2A MFSD2 lysolipid transporter A, lysophospholipid gene DOID:1059 intellectual disability ISO RGD:1606200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26005865 12162120 MFSD2A MFSD2 lysolipid transporter A, lysophospholipid gene DOID:10907 microcephaly ISO RGD:1606200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12162120 MFSD2A MFSD2 lysolipid transporter A, lysophospholipid gene DOID:11383 cryptorchidism ISO RGD:1606200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptorchidism 12162120 MFSD2A MFSD2 lysolipid transporter A, lysophospholipid gene DOID:630 genetic disease ISO RGD:1606200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 12162120 MFSD2A MFSD2 lysolipid transporter A, lysophospholipid gene DOID:684 hepatocellular carcinoma ISO RGD:1606200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12162120 MFSD2A MFSD2 lysolipid transporter A, lysophospholipid gene DOID:92 speech disorder ISO RGD:1606200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26005865 12162147 UBXN4 UBX domain protein 4 gene DOID:0060591 WHIM syndrome 1 ISO RGD:1316650 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 12162147 UBXN4 UBX domain protein 4 gene DOID:630 genetic disease ISO RGD:1316650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162165 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:732028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545|PMID:30504930 12162165 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:0060892 late onset Parkinson's disease ISO RGD:732028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:12496759|PMID:15079038|PMID:15184637|PMID:19429166|PMID:23066323|PMID:24126627|PMID:25741868|PMID:28492532 12162165 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:0080855 Parkinsonism treatment ISO RGD:3202 D RGD:9068941 20210326 RGD PMID:31408200|REF_RGD_ID:124713575 12162165 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:12849 autistic disorder ISO RGD:732028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12162165 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:14330 Parkinson's disease ISO RGD:732028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant/Recessive 12162165 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:1826 epilepsy ISO RGD:732028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12162165 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:37 skin disease ISO RGD:732028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12162165 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:5419 schizophrenia ISO RGD:736400 D RGD:9068941 20220825 MouseDO OMIM:181500 12162165 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:630 genetic disease ISO RGD:732028 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32366965 12162165 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:732028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12162165 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732028 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32366965 12162165 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:736400 D RGD:9068941 20210326 RGD PMID:25855987|REF_RGD_ID:11057198 12162165 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:9006288 INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM ISO RGD:732028 D RGD:7240710 20221214 OMIM 12162165 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:9006288 INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM ISO RGD:732028 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism PMID:25741868|PMID:29770430|PMID:31428396|PMID:31922365|PMID:32366965|PMID:33585677 12162165 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:9006359 Vitamin D Deficiency ISO RGD:3202 D RGD:9068941 20210326 RGD PMID:28365874|REF_RGD_ID:124713570 12162165 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:732028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder 12162165 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:732028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12162165 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:9008 psoriatic arthritis ISO RGD:732028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19732956 12162165 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:9008086 Developmental Disabilities ISO RGD:732028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12162165 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16293616 12162165 NR4A2 nuclear receptor subfamily 4 group A member 2 gene DOID:9008582 Developmental Disease ISO RGD:732028 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12162188 ALPK3 alpha kinase 3 gene DOID:0050700 cardiomyopathy ISO RGD:1344760 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:21441111|PMID:26846950|PMID:27106955|PMID:28492532|PMID:28630369|PMID:32480058|PMID:33191771|PMID:34263907 12162188 ALPK3 alpha kinase 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1344760 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:21441111|PMID:24033266|PMID:26846950|PMID:27106955|PMID:28492532|PMID:30847666|PMID:32480058|PMID:34263907 12162188 ALPK3 alpha kinase 3 gene DOID:2717 Bloom syndrome ISO RGD:1344760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12162188 ALPK3 alpha kinase 3 gene DOID:630 genetic disease ISO RGD:1344760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12162188 ALPK3 alpha kinase 3 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1344760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 12162188 ALPK3 alpha kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:21441111|PMID:25741868|PMID:26846950|PMID:27106955|PMID:28492532|PMID:28630369|PMID:29661763|PMID:32480058|PMID:34263907 12162188 ALPK3 alpha kinase 3 gene DOID:9009188 Hypertrophic Cardiomyopathy 27 ISO RGD:1344760 D RGD:7240710 20190315 OMIM 12162188 ALPK3 alpha kinase 3 gene DOID:9009188 Hypertrophic Cardiomyopathy 27 ISO RGD:1344760 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic 27 PMID:17576681|PMID:21441111|PMID:24033266|PMID:25741868|PMID:26846950|PMID:27106955|PMID:28492532|PMID:28630369|PMID:29661763|PMID:30046096|PMID:30192042|PMID:30513141|PMID:30847666|PMID:31074094|PMID:32442321|PMID:32480058|PMID:32746448|PMID:33076350|PMID:34263907|PMID:34526680|PMID:9536098 12162188 ALPK3 alpha kinase 3 gene DOID:9256 colorectal cancer ISO RGD:1344760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12162205 MAGOH mago homolog, exon junction complex subunit gene DOID:630 genetic disease ISO RGD:1313047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162214 SNX11 sorting nexin 11 gene DOID:630 genetic disease ISO RGD:1316444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162232 RALGDS ral guanine nucleotide dissociation stimulator gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1351009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12162232 RALGDS ral guanine nucleotide dissociation stimulator gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1351009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12162232 RALGDS ral guanine nucleotide dissociation stimulator gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1351009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12162232 RALGDS ral guanine nucleotide dissociation stimulator gene DOID:0081097 Rafiq syndrome ISO RGD:1351009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12162232 RALGDS ral guanine nucleotide dissociation stimulator gene DOID:1059 intellectual disability ISO RGD:1351009 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12162232 RALGDS ral guanine nucleotide dissociation stimulator gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1351009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12162232 RALGDS ral guanine nucleotide dissociation stimulator gene DOID:3652 Leigh disease ISO RGD:1351009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12162232 RALGDS ral guanine nucleotide dissociation stimulator gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1351009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12162232 RALGDS ral guanine nucleotide dissociation stimulator gene DOID:630 genetic disease ISO RGD:1351009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162274 GTF3C5 general transcription factor IIIC subunit 5 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1313045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12162274 GTF3C5 general transcription factor IIIC subunit 5 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1313045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12162274 GTF3C5 general transcription factor IIIC subunit 5 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1313045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12162274 GTF3C5 general transcription factor IIIC subunit 5 gene DOID:0081097 Rafiq syndrome ISO RGD:1313045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12162274 GTF3C5 general transcription factor IIIC subunit 5 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1313045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12162274 GTF3C5 general transcription factor IIIC subunit 5 gene DOID:3652 Leigh disease ISO RGD:1313045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12162274 GTF3C5 general transcription factor IIIC subunit 5 gene DOID:630 genetic disease ISO RGD:1313045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162289 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1314438 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:25741868 12162289 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0070331 mitochondrial DNA depletion syndrome 8b ISO RGD:1314438 D RGD:7240710 20190515 OMIM 12162289 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0070331 mitochondrial DNA depletion syndrome 8b ISO RGD:1314438 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8B (MNGIE type) PMID:19125351|PMID:19667227|PMID:24741716|PMID:25741868|PMID:28492532|PMID:32161153 12162289 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1314438 D RGD:7240710 20180130 OMIM 12162289 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1314438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease PMID:17486094|PMID:17576681|PMID:19125351|PMID:19138848|PMID:19664747|PMID:19667227|PMID:21378381|PMID:21646632|PMID:21951382|PMID:23107649|PMID:24741716|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26467025|PMID:27290639|PMID:28492532|PMID:28639102|PMID:28812649|PMID:30439532|PMID:31462754|PMID:32313153|PMID:33300680|PMID:9536098 12162289 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1314438 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency PMID:12859174|PMID:16199547|PMID:17486094|PMID:17576681|PMID:19125351|PMID:19138848|PMID:19664747|PMID:19667227|PMID:21378381|PMID:21646632|PMID:21951382|PMID:23107649|PMID:24741716|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26467025|PMID:27290639|PMID:28492532|PMID:28639102|PMID:28812649|PMID:30439532|PMID:31462754|PMID:32313153|PMID:33300680|PMID:8130196|PMID:9536098 12162289 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1314438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease PMID:12859174|PMID:16199547|PMID:17486094|PMID:17576681|PMID:18504129|PMID:19125351|PMID:19138848|PMID:19664747|PMID:19667227|PMID:21378381|PMID:21646632|PMID:21951382|PMID:23107649|PMID:24741716|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26467025|PMID:27290639|PMID:28492532|PMID:28639102|PMID:28812649|PMID:30439532|PMID:31462754|PMID:32161153|PMID:32313153|PMID:33300680|PMID:8130196|PMID:9536098 12162289 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0110668 congenital myasthenic syndrome 10 ISO RGD:1314438 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 10 PMID:25326635|PMID:25326637|PMID:25741868|PMID:30439532 12162289 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0111518 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 ISO RGD:1314438 D RGD:7240710 20180130 OMIM 12162289 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0111518 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 ISO RGD:1314438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 PMID:17486094|PMID:19664747|PMID:21378381|PMID:21646632|PMID:23107649|PMID:24741716|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28812649 12162289 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0111590 Cohen syndrome ISO RGD:1314438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12162289 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:10003 sensorineural hearing loss ISO RGD:1314438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:28492532|PMID:32827185|PMID:8279480 12162289 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:1314438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions PMID:21646632|PMID:21951382|PMID:23107649|PMID:24741716|PMID:25741868|PMID:28492532|PMID:32161153 12162289 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:3635 congenital myasthenic syndrome ISO RGD:1314438 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myasthenia, limb-girdle, familial PMID:25326635|PMID:25326637|PMID:25741868|PMID:30439532 12162289 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:3650 lactic acidosis ISO RGD:1314438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138848 12162289 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:557 kidney disease ISO RGD:1314438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138848 12162289 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:630 genetic disease ISO RGD:1314438 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12162289 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:699 mitochondrial myopathy ISO RGD:1314438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17486094|PMID:19138848 12162289 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:700 mitochondrial metabolism disease ISO RGD:1314438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:17576681|PMID:21646632|PMID:23107649|PMID:24741716|PMID:25741868|PMID:28492532|PMID:28812649|PMID:32313153|PMID:9536098 12162289 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:9004493 Camptocormia ISO RGD:1314438 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bent Spine Syndrome PMID:17486094|PMID:21378381|PMID:24741716|PMID:25741868 12162289 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:9004658 Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction ISO RGD:1314438 D RGD:7240710 20220316 OMIM 12162289 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:9004658 Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction ISO RGD:1314438 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction PMID:17486094|PMID:21378381|PMID:24741716|PMID:25741868|PMID:28492532|PMID:32827185|PMID:8279480 12162289 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:9005603 Muscle Hypotonia ISO RGD:1314438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138848 12162305 ADGRA2 adhesion G protein-coupled receptor A2 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1312494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 12162305 ADGRA2 adhesion G protein-coupled receptor A2 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1312494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 12162305 ADGRA2 adhesion G protein-coupled receptor A2 gene DOID:3070 high grade glioma ISO RGD:1312494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12162305 ADGRA2 adhesion G protein-coupled receptor A2 gene DOID:607 paraplegia ISO RGD:1312494 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12162305 ADGRA2 adhesion G protein-coupled receptor A2 gene DOID:630 genetic disease ISO RGD:1312494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162327 CNOT7 CCR4-NOT transcription complex subunit 7 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1313268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 12162327 CNOT7 CCR4-NOT transcription complex subunit 7 gene DOID:12336 male infertility ISO RGD:1305313 D RGD:9068941 20200609 RGD mRNA:increased expression:testis PMID:22785219|REF_RGD_ID:10755341 12162327 CNOT7 CCR4-NOT transcription complex subunit 7 gene DOID:630 genetic disease ISO RGD:1313268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162341 RHBDF2 rhomboid 5 homolog 2 gene DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome ISO RGD:1320182 D RGD:7240710 20180130 OMIM 12162341 RHBDF2 rhomboid 5 homolog 2 gene DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome ISO RGD:1320182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma-esophageal carcinoma syndrome PMID:13209063|PMID:22265016|PMID:22638770|PMID:25741868|PMID:28492532|PMID:8508402 12162341 RHBDF2 rhomboid 5 homolog 2 gene DOID:630 genetic disease ISO RGD:1320182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12162341 RHBDF2 rhomboid 5 homolog 2 gene DOID:687 hepatoblastoma ISO RGD:1320182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 12162372 EPHB1 EPH receptor B1 gene DOID:0080600 COVID-19 ISO RGD:1353347 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12162372 EPHB1 EPH receptor B1 gene DOID:0080685 aortic dissection ISO RGD:1353347 D RGD:9068941 20220929 RGD protein:increased phosphorylation:aorta (human) PMID:30787994|REF_RGD_ID:155260309 12162372 EPHB1 EPH receptor B1 gene DOID:10283 prostate cancer susceptibility ISO RGD:1353347 D RGD:9068941 20220811 RGD DNA:SNPs,haplptype:multiple PMID:21603658|REF_RGD_ID:153305950 12162372 EPHB1 EPH receptor B1 gene DOID:10534 stomach cancer ISO RGD:1353347 D RGD:9068941 20220811 RGD mRNA:increased expression:stomach (human) PMID:12136247|REF_RGD_ID:153323289 12162372 EPHB1 EPH receptor B1 gene DOID:5844 myocardial infarction ameliorates ISO RGD:2556 D RGD:9068941 20230427 RGD PMID:28622474|REF_RGD_ID:329333030 12162372 EPHB1 EPH receptor B1 gene DOID:630 genetic disease ISO RGD:1353347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162372 EPHB1 EPH receptor B1 gene DOID:684 hepatocellular carcinoma ISO RGD:1551682 D RGD:9068941 20210702 RGD protein:increased phosphorylation:liver (mouse) PMID:28100771|REF_RGD_ID:127285675 12162372 EPHB1 EPH receptor B1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1353347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12162392 CDA cytidine deaminase gene DOID:0060369 Parkinson's disease 6 ISO RGD:1322377 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12162392 CDA cytidine deaminase gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1322377 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12162392 CDA cytidine deaminase gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1322377 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12162392 CDA cytidine deaminase gene DOID:10534 stomach cancer ISO RGD:1322377 D RGD:9068941 20220616 RGD protein:increased expression:stomach: PMID:8076377|REF_RGD_ID:152995290 12162392 CDA cytidine deaminase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1322377 D RGD:9068941 20200609 RGD DNA:snp:cds:p.K27Q (human) PMID:18347182|REF_RGD_ID:2316365 12162392 CDA cytidine deaminase gene DOID:630 genetic disease ISO RGD:1322377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162392 CDA cytidine deaminase gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1322377 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12162392 CDA cytidine deaminase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1322377 D RGD:9068941 20220616 RGD DNA:SNP:cds:rs1048977|rs12726436|rs2072671 (human) PMID:28347776|REF_RGD_ID:152995291 12162392 CDA cytidine deaminase gene DOID:9008939 Breast Neoplasms ISO RGD:1322377 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10811482|PMID:25330770 12162400 PRSS16 serine protease 16 gene DOID:630 genetic disease ISO RGD:1315387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162413 LLGL1 LLGL scribble cell polarity complex component 1 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:733152 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 12162413 LLGL1 LLGL scribble cell polarity complex component 1 gene DOID:0050777 Joubert syndrome ISO RGD:733152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12162413 LLGL1 LLGL scribble cell polarity complex component 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:733152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12162413 LLGL1 LLGL scribble cell polarity complex component 1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:733152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12162413 LLGL1 LLGL scribble cell polarity complex component 1 gene DOID:10908 hydrocephalus ISO RGD:733153 D RGD:9068941 20200609 RGD PMID:15037549|REF_RGD_ID:1300301 12162413 LLGL1 LLGL scribble cell polarity complex component 1 gene DOID:12849 autistic disorder ISO RGD:733152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12162413 LLGL1 LLGL scribble cell polarity complex component 1 gene DOID:630 genetic disease ISO RGD:733152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162413 LLGL1 LLGL scribble cell polarity complex component 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 12162440 KLHDC4 kelch domain containing 4 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1322601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12162440 KLHDC4 kelch domain containing 4 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1322601 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12162440 KLHDC4 kelch domain containing 4 gene DOID:630 genetic disease ISO RGD:1322601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162440 KLHDC4 kelch domain containing 4 gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1322601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to PMID:24530203|PMID:26913920|PMID:28492532 12162440 KLHDC4 kelch domain containing 4 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1322601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12162460 FOXG1 forkhead box G1 gene DOID:0060041 autism spectrum disorder ISO RGD:737514 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12162460 FOXG1 forkhead box G1 gene DOID:0070297 primary microcephaly ISO RGD:737514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:25741868 12162460 FOXG1 forkhead box G1 gene DOID:1059 intellectual disability ISO RGD:737514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Severe intellectual deficiency PMID:18414213|PMID:25741868|PMID:28492532|PMID:28661489|PMID:28708303 12162460 FOXG1 forkhead box G1 gene DOID:10907 microcephaly ISO RGD:737514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital microcephaly PMID:25741868 12162460 FOXG1 forkhead box G1 gene DOID:1206 Rett syndrome ISO RGD:737514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:25741868 12162460 FOXG1 forkhead box G1 gene DOID:1826 epilepsy ISO RGD:737514 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 12162460 FOXG1 forkhead box G1 gene DOID:630 genetic disease ISO RGD:737514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1356269|PMID:18414213|PMID:19564653|PMID:19578037|PMID:19806373|PMID:21280142|PMID:21441262|PMID:21488007|PMID:22190898|PMID:23757202|PMID:24836831|PMID:25356899|PMID:25741868|PMID:26344814|PMID:26467025|PMID:26633542|PMID:26845707|PMID:27029630|PMID:28492532|PMID:28628100|PMID:28661489|PMID:28851325|PMID:29655203|PMID:30533527|PMID:30792901|PMID:8332212 12162460 FOXG1 forkhead box G1 gene DOID:863 nervous system disease ISO RGD:737514 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23203475 12162460 FOXG1 forkhead box G1 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:737514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:19806373|PMID:21441262|PMID:22190898|PMID:23757202|PMID:24836831|PMID:25741868|PMID:26344814|PMID:28492532|PMID:28661489|PMID:28851325|PMID:30533527 12162460 FOXG1 forkhead box G1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 12162460 FOXG1 forkhead box G1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:737514 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12162460 FOXG1 forkhead box G1 gene DOID:9006534 Nervous System Malformations ISO RGD:737514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:20734096|PMID:22129046|PMID:22739344|PMID:22968132|PMID:25741868|PMID:28492532|PMID:28661489 12162460 FOXG1 forkhead box G1 gene DOID:9008086 Developmental Disabilities ISO RGD:737514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:19578037|PMID:25741868|PMID:28492532|PMID:28661489|PMID:32581362 12162460 FOXG1 forkhead box G1 gene DOID:9008979 Rett Syndrome, Congenital Variant ISO RGD:737514 D RGD:7240710 20180130 OMIM 12162460 FOXG1 forkhead box G1 gene DOID:9008979 Rett Syndrome, Congenital Variant ISO RGD:737514 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FOXG1 disorder | ClinVar Annotator: match by term: Rett syndrome, congenital variant PMID:18414213|PMID:18571142|PMID:19564653|PMID:19578037|PMID:19623215|PMID:19806373|PMID:20734096|PMID:21270142|PMID:21280142|PMID:21441262|PMID:21488007|PMID:21694734|PMID:22091895|PMID:22129046|PMID:22190898|PMID:22258524|PMID:22739344|PMID:22968132|PMID:23757202|PMID:23838309|PMID:24412290|PMID:24731847|PMID:24836831|PMID:24901346|PMID:25326635|PMID:25356899|PMID:25741868|PMID:25914188|PMID:26344814|PMID:26364767|PMID:26467025|PMID:26633542|PMID:26938784|PMID:26993267|PMID:27001178|PMID:27029630|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28661489|PMID:28708303|PMID:28781028|PMID:28851325|PMID:28947817|PMID:29389947|PMID:29611406|PMID:29655203|PMID:29852413|PMID:30525188|PMID:30533527|PMID:30792901|PMID:30842224|PMID:30866059|PMID:31780880|PMID:32581362|PMID:34284163|PMID:34837432 12162460 FOXG1 forkhead box G1 gene DOID:9250 acrocallosal syndrome ISO RGD:737514 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18627055 12162465 CUEDC1 CUE domain containing 1 gene DOID:0050777 Joubert syndrome ISO RGD:1349850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12162465 CUEDC1 CUE domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1349850 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12162478 NXF3 nuclear RNA export factor 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12162478 NXF3 nuclear RNA export factor 3 gene DOID:12849 autistic disorder ISO RGD:1354288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12162478 NXF3 nuclear RNA export factor 3 gene DOID:630 genetic disease ISO RGD:1354288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162479 PPP1R3F protein phosphatase 1 regulatory subunit 3F gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12162479 PPP1R3F protein phosphatase 1 regulatory subunit 3F gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1353330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12162479 PPP1R3F protein phosphatase 1 regulatory subunit 3F gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1353330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12162479 PPP1R3F protein phosphatase 1 regulatory subunit 3F gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1353330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12162479 PPP1R3F protein phosphatase 1 regulatory subunit 3F gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1353330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12162479 PPP1R3F protein phosphatase 1 regulatory subunit 3F gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1353330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12162479 PPP1R3F protein phosphatase 1 regulatory subunit 3F gene DOID:12849 autistic disorder ISO RGD:1353330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12162479 PPP1R3F protein phosphatase 1 regulatory subunit 3F gene DOID:630 genetic disease ISO RGD:1353330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162487 SLC7A3 solute carrier family 7 member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12162487 SLC7A3 solute carrier family 7 member 3 gene DOID:1059 intellectual disability ISO RGD:733970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31690835 12162487 SLC7A3 solute carrier family 7 member 3 gene DOID:12849 autistic disorder ISO RGD:733970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12162487 SLC7A3 solute carrier family 7 member 3 gene DOID:630 genetic disease ISO RGD:733970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162487 SLC7A3 solute carrier family 7 member 3 gene DOID:9007898 FG Syndrome 1 ISO RGD:733970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 12162508 GRAMD1C GRAM domain containing 1C gene DOID:630 genetic disease ISO RGD:1606791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162542 MRM1 mitochondrial rRNA methyltransferase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1605341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 12162542 MRM1 mitochondrial rRNA methyltransferase 1 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1605341 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 12162542 MRM1 mitochondrial rRNA methyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1605341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12162542 MRM1 mitochondrial rRNA methyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1605341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12162542 MRM1 mitochondrial rRNA methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1605341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162542 MRM1 mitochondrial rRNA methyltransferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12162542 MRM1 mitochondrial rRNA methyltransferase 1 gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1605341 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 12162551 ABLIM2 actin binding LIM protein family member 2 gene DOID:630 genetic disease ISO RGD:1349528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162551 ABLIM2 actin binding LIM protein family member 2 gene DOID:9002189 High Myopia ISO RGD:1349528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12162612 SNX18 sorting nexin 18 gene DOID:630 genetic disease ISO RGD:1321231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162612 SNX18 sorting nexin 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12162612 SNX18 sorting nexin 18 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17984051 12162639 RHCE Rh blood group CcEe antigens gene DOID:0050641 Rh deficiency syndrome ISO RGD:736735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RhD negative 12162639 RHCE Rh blood group CcEe antigens gene DOID:4175 Rh isoimmunization ISO RGD:736735 D RGD:7240710 20210818 OMIM 12162639 RHCE Rh blood group CcEe antigens gene DOID:4175 Rh isoimmunization ISO RGD:736735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemolytic disease of fetus OR newborn due to RhD isoimmunization PMID:28639307 12162639 RHCE Rh blood group CcEe antigens gene DOID:589 congenital hemolytic anemia ISO RGD:736735 D RGD:9068941 20201127 CTD CTD Direct Evidence: marker/mechanism PMID:9657769 12162639 RHCE Rh blood group CcEe antigens gene DOID:630 genetic disease ISO RGD:736735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162653 CNOT10 CCR4-NOT transcription complex subunit 10 gene DOID:630 genetic disease ISO RGD:1343563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162686 REEP1 receptor accessory protein 1 gene DOID:0060224 atrial fibrillation ISO RGD:1313134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12162686 REEP1 receptor accessory protein 1 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1313134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant 12162686 REEP1 receptor accessory protein 1 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1313134 D RGD:7240710 20180130 OMIM 12162686 REEP1 receptor accessory protein 1 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1313134 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:16199547|PMID:16826527|PMID:17576681|PMID:18321925|PMID:18644145|PMID:19034539|PMID:19072839|PMID:20718791|PMID:21618648|PMID:22062632|PMID:22703882|PMID:23108492|PMID:23400676|PMID:23812641|PMID:24098485|PMID:24451228|PMID:24478229|PMID:24604904|PMID:24986827|PMID:25025039|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26201691|PMID:26374131|PMID:26467025|PMID:26671083|PMID:27066569|PMID:27260292|PMID:28362824|PMID:28492532|PMID:29124833|PMID:29629531|PMID:30373780|PMID:30564185|PMID:30637453|PMID:31872057|PMID:32581362|PMID:9536098 12162686 REEP1 receptor accessory protein 1 gene DOID:0111203 distal hereditary motor neuronopathy type 5 ISO RGD:1313134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12162686 REEP1 receptor accessory protein 1 gene DOID:0111205 distal hereditary motor neuronopathy type 5B ISO RGD:1313134 D RGD:7240710 20180130 OMIM 12162686 REEP1 receptor accessory protein 1 gene DOID:0111205 distal hereditary motor neuronopathy type 5B ISO RGD:1313134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5B PMID:16826527|PMID:18321925|PMID:18644145|PMID:19034539|PMID:20718791|PMID:22703882|PMID:24478229|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34193129 12162686 REEP1 receptor accessory protein 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1313134 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:22703882|PMID:24604904|PMID:25025039|PMID:25741868|PMID:28492532 12162686 REEP1 receptor accessory protein 1 gene DOID:1389 polyneuropathy ISO RGD:1313134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:25741868 12162686 REEP1 receptor accessory protein 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1313134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:16199547|PMID:16826527|PMID:18321925|PMID:18644145|PMID:19034539|PMID:19072839|PMID:20718791|PMID:22703882|PMID:23400676|PMID:23812641|PMID:24478229|PMID:25525159|PMID:25741868|PMID:26201691|PMID:26467025|PMID:28492532|PMID:28832565|PMID:29629531|PMID:30637453|PMID:32581362 12162686 REEP1 receptor accessory protein 1 gene DOID:607 paraplegia ISO RGD:1313134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:16826527|PMID:18321925|PMID:18644145|PMID:20718791|PMID:22703882|PMID:23812641|PMID:24478229|PMID:25525159|PMID:25741868|PMID:26201691|PMID:26467025|PMID:27066569|PMID:28492532|PMID:29124833|PMID:30564185|PMID:31872057|PMID:32581362 12162686 REEP1 receptor accessory protein 1 gene DOID:630 genetic disease ISO RGD:1313134 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16826527|PMID:18321925|PMID:24051375|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28362824|PMID:28492532|PMID:30373780 12162686 REEP1 receptor accessory protein 1 gene DOID:9003231 Distal Spinal Muscular Atrophy Type 6 ISO RGD:1313134 D RGD:7240710 20220921 OMIM 12162686 REEP1 receptor accessory protein 1 gene DOID:9003231 Distal Spinal Muscular Atrophy Type 6 ISO RGD:1313134 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 6 PMID:21618648|PMID:25741868|PMID:31872057|PMID:34193129 12162686 REEP1 receptor accessory protein 1 gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1313134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 12162686 REEP1 receptor accessory protein 1 gene DOID:9007428 Muscle Spasticity ISO RGD:1313134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spasticity PMID:25025039 12162705 C15H1orf185 chromosome 15 C1orf185 homolog gene DOID:0060224 atrial fibrillation ISO RGD:1601806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12162705 C15H1orf185 chromosome 15 C1orf185 homolog gene DOID:630 genetic disease ISO RGD:1601806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162714 LOC100683958 neuroblastoma breakpoint family member 6-like protein gene DOID:1540 parathyroid carcinoma ISO RGD:8172679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12162714 LOC100683958 neuroblastoma breakpoint family member 6-like protein gene DOID:5419 schizophrenia ISO RGD:8172679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12162714 LOC100683958 neuroblastoma breakpoint family member 6-like protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:8172679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12162732 SHISA9 shisa family member 9 gene DOID:5419 schizophrenia ISO RGD:3160513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12162732 SHISA9 shisa family member 9 gene DOID:630 genetic disease ISO RGD:3160513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162747 TNIP3 TNFAIP3 interacting protein 3 gene DOID:630 genetic disease ISO RGD:1346864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162747 TNIP3 TNFAIP3 interacting protein 3 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1346864 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 12162747 TNIP3 TNFAIP3 interacting protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12162764 EPG5 ectopic P-granules 5 autophagy tethering factor gene DOID:0050700 cardiomyopathy ISO RGD:1347008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23222957 12162764 EPG5 ectopic P-granules 5 autophagy tethering factor gene DOID:0060356 Vici syndrome ISO RGD:1347008 D RGD:7240710 20180130 OMIM 12162764 EPG5 ectopic P-granules 5 autophagy tethering factor gene DOID:0060356 Vici syndrome ISO RGD:1347008 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23222957|PMID:23674064|PMID:24033266|PMID:25331754|PMID:25640679|PMID:25741868|PMID:26854214|PMID:26917586|PMID:27343256|PMID:27577878|PMID:28168853|PMID:28492532|PMID:28615637|PMID:28939701|PMID:29130391|PMID:31184778|PMID:31625567|PMID:31981491|PMID:32313153|PMID:33365035|PMID:3344762|PMID:9536098 12162764 EPG5 ectopic P-granules 5 autophagy tethering factor gene DOID:10584 retinitis pigmentosa ISO RGD:1347008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic retinitis pigmentosa 12162764 EPG5 ectopic P-granules 5 autophagy tethering factor gene DOID:1059 intellectual disability ISO RGD:1347008 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12162764 EPG5 ectopic P-granules 5 autophagy tethering factor gene DOID:10907 microcephaly ISO RGD:1347008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12162764 EPG5 ectopic P-granules 5 autophagy tethering factor gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1314820 D RGD:9068941 20220825 MouseDO 12162764 EPG5 ectopic P-granules 5 autophagy tethering factor gene DOID:612 primary immunodeficiency disease ISO RGD:1347008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23222957 12162764 EPG5 ectopic P-granules 5 autophagy tethering factor gene DOID:630 genetic disease ISO RGD:1347008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23222957|PMID:23674064|PMID:25741868|PMID:28492532|PMID:31625567|PMID:9536098 12162764 EPG5 ectopic P-granules 5 autophagy tethering factor gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1347008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 12162764 EPG5 ectopic P-granules 5 autophagy tethering factor gene DOID:9005660 Hypopigmentation ISO RGD:1347008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23222957 12162764 EPG5 ectopic P-granules 5 autophagy tethering factor gene DOID:9008086 Developmental Disabilities ISO RGD:1347008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28492532 12162812 PEX10 peroxisomal biogenesis factor 10 gene DOID:0050444 infantile Refsum disease ISO RGD:1319563 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:10527683|PMID:10862081|PMID:12794690|PMID:15542397|PMID:17041890|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:20301621|PMID:20695019|PMID:21031596|PMID:21465523|PMID:25525159|PMID:25741868|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:9683594|PMID:9700193 12162812 PEX10 peroxisomal biogenesis factor 10 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:10862081|PMID:21031596|PMID:28492532|PMID:31674007|PMID:9683594 12162812 PEX10 peroxisomal biogenesis factor 10 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12162812 PEX10 peroxisomal biogenesis factor 10 gene DOID:0050952 spastic ataxia ISO RGD:1319563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:10862081|PMID:21031596|PMID:25741868|PMID:28492532|PMID:9683594 12162812 PEX10 peroxisomal biogenesis factor 10 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1319563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12162812 PEX10 peroxisomal biogenesis factor 10 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1319563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12162812 PEX10 peroxisomal biogenesis factor 10 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1319563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10862081|PMID:9683594|PMID:9700193 12162812 PEX10 peroxisomal biogenesis factor 10 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1319563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) 12162812 PEX10 peroxisomal biogenesis factor 10 gene DOID:0080481 peroxisome biogenesis disorder 6A ISO RGD:1319563 D RGD:7240710 20180425 OMIM 12162812 PEX10 peroxisomal biogenesis factor 10 gene DOID:0080481 peroxisome biogenesis disorder 6A ISO RGD:1319563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A (Zellweger) PMID:10527683|PMID:10862081|PMID:12794690|PMID:15542397|PMID:16199547|PMID:17041890|PMID:17576681|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:20301621|PMID:20695019|PMID:21031596|PMID:24033266|PMID:25179809|PMID:25525159|PMID:25741868|PMID:26319495|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:7565793|PMID:9536098|PMID:9683594|PMID:9700193 12162812 PEX10 peroxisomal biogenesis factor 10 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1319563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12162812 PEX10 peroxisomal biogenesis factor 10 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1319563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12162812 PEX10 peroxisomal biogenesis factor 10 gene DOID:0111934 immunodeficiency 38 ISO RGD:1319563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12162812 PEX10 peroxisomal biogenesis factor 10 gene DOID:0111935 immunodeficiency 16 ISO RGD:1319563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12162812 PEX10 peroxisomal biogenesis factor 10 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12162812 PEX10 peroxisomal biogenesis factor 10 gene DOID:630 genetic disease ISO RGD:1319563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10862081|PMID:16199547|PMID:21031596|PMID:25741868|PMID:28492532|PMID:9683594 12162812 PEX10 peroxisomal biogenesis factor 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12162812 PEX10 peroxisomal biogenesis factor 10 gene DOID:9006522 Peroxisome Biogenesis Disorder 6B ISO RGD:1319563 D RGD:7240710 20180130 OMIM 12162812 PEX10 peroxisomal biogenesis factor 10 gene DOID:9006522 Peroxisome Biogenesis Disorder 6B ISO RGD:1319563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6B PMID:10527683|PMID:10862081|PMID:12794690|PMID:15542397|PMID:17041890|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:20301621|PMID:20695019|PMID:21031596|PMID:21465523|PMID:25179809|PMID:25525159|PMID:25741868|PMID:26319495|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:8982949|PMID:9683594|PMID:9700193 12162812 PEX10 peroxisomal biogenesis factor 10 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1319563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12162812 PEX10 peroxisomal biogenesis factor 10 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1319563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 | ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group B PMID:10527683|PMID:10862081|PMID:12794690|PMID:15542397|PMID:16199547|PMID:17041890|PMID:17576681|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:19492091|PMID:20301621|PMID:20695019|PMID:21031596|PMID:21465523|PMID:24033266|PMID:25179809|PMID:25525159|PMID:25741868|PMID:26319495|PMID:26477546|PMID:2723085|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:31674007|PMID:34000440|PMID:7565793|PMID:9536098|PMID:9683594|PMID:9700193 12162812 PEX10 peroxisomal biogenesis factor 10 gene DOID:905 Zellweger syndrome ISO RGD:1319563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10862081|PMID:12794690|PMID:15542397|PMID:16199547|PMID:17041890|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:20301621|PMID:20695019|PMID:21031596|PMID:21465523|PMID:24033266|PMID:25179809|PMID:25525159|PMID:25741868|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:9683594|PMID:9700193 12162812 PEX10 peroxisomal biogenesis factor 10 gene DOID:905 Zellweger syndrome ISO RGD:1319563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10527683|PMID:10862081|PMID:12794690|PMID:15542397|PMID:16199547|PMID:17041890|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:20301621|PMID:20695019|PMID:21031596|PMID:21465523|PMID:24033266|PMID:25179809|PMID:25525159|PMID:25741868|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:9683594|PMID:9700193 12162812 PEX10 peroxisomal biogenesis factor 10 gene DOID:905 Zellweger syndrome ISO RGD:1319563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum PMID:10527683|PMID:10862081|PMID:12794690|PMID:15542397|PMID:17041890|PMID:17576681|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:20301621|PMID:20695019|PMID:21031596|PMID:21465523|PMID:24033266|PMID:25179809|PMID:25525159|PMID:25741868|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:9536098|PMID:9683594|PMID:9700193 12162812 PEX10 peroxisomal biogenesis factor 10 gene DOID:906 peroxisomal disease ISO RGD:1607093 D RGD:9068941 20200609 RGD PMID:25176044|REF_RGD_ID:13207455 12162819 VPS16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1345721 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12162819 VPS16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:1227 neutropenia ISO RGD:1345721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neutropenia 12162819 VPS16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1345721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12162819 VPS16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:574 peripheral nervous system disease ISO RGD:1345721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 12162819 VPS16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:630 genetic disease ISO RGD:1345721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162819 VPS16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:870 neuropathy ISO RGD:1345721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 12162819 VPS16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:9002720 Splenomegaly ISO RGD:1345721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Enlarged Spleen 12162819 VPS16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:9008352 Dystonia 30 ISO RGD:1345721 D RGD:7240710 20210505 OMIM 12162819 VPS16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:9008352 Dystonia 30 ISO RGD:1345721 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dystonia 30 | ClinVar Annotator: match by term: VPS16-associated disorder PMID:25741868|PMID:27174565|PMID:32808683 12162851 LTV1 LTV1 ribosome biogenesis factor gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1322627 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532 12162851 LTV1 LTV1 ribosome biogenesis factor gene DOID:630 genetic disease ISO RGD:1322627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162851 LTV1 LTV1 ribosome biogenesis factor gene DOID:9001883 Inflammatory Poikiloderma with Hair Abnormalities and Acral Keratoses ISO RGD:1322627 D RGD:7240710 20230201 OMIM 12162851 LTV1 LTV1 ribosome biogenesis factor gene DOID:9001883 Inflammatory Poikiloderma with Hair Abnormalities and Acral Keratoses ISO RGD:1322627 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory poikiloderma with hair abnormalities and acral keratoses PMID:34999892 12162866 MIR487A microRNA mir-487a gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1604865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 12162866 MIR487A microRNA mir-487a gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1604865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12162902 DDX23 DEAD-box helicase 23 gene DOID:1059 intellectual disability ISO RGD:1318600 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12162902 DDX23 DEAD-box helicase 23 gene DOID:630 genetic disease ISO RGD:1318600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162902 DDX23 DEAD-box helicase 23 gene DOID:9001276 Failure to Thrive ISO RGD:1318600 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:34050707 12162902 DDX23 DEAD-box helicase 23 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1318600 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intrauterine growth retardation PMID:25741868|PMID:34050707 12162902 DDX23 DEAD-box helicase 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318600 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: DDX23-related Neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:34050707 12162927 BOD1L1 biorientation of chromosomes in cell division 1 like 1 gene DOID:630 genetic disease ISO RGD:1344806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162958 FRS3 fibroblast growth factor receptor substrate 3 gene DOID:0050444 infantile Refsum disease ISO RGD:1321005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12162958 FRS3 fibroblast growth factor receptor substrate 3 gene DOID:630 genetic disease ISO RGD:1321005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12162958 FRS3 fibroblast growth factor receptor substrate 3 gene DOID:905 Zellweger syndrome ISO RGD:1321005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12162972 IRAK4 interleukin 1 receptor associated kinase 4 gene DOID:2316 brain ischemia ISO RGD:1305303 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:21925238|REF_RGD_ID:7495802 12162972 IRAK4 interleukin 1 receptor associated kinase 4 gene DOID:630 genetic disease ISO RGD:1313252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12162972 IRAK4 interleukin 1 receptor associated kinase 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16537705 12162972 IRAK4 interleukin 1 receptor associated kinase 4 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1313252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21925238 12162972 IRAK4 interleukin 1 receptor associated kinase 4 gene DOID:9003909 Immunodeficiency 67 ISO RGD:1313252 D RGD:7240710 20180130 OMIM 12162972 IRAK4 interleukin 1 receptor associated kinase 4 gene DOID:9003909 Immunodeficiency 67 ISO RGD:1313252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 67 | ClinVar Annotator: match by term: Invasive pneumococcal disease, recurrent isolated PMID:12637671|PMID:12925671|PMID:15520784|PMID:16199547|PMID:16647421|PMID:16950813|PMID:17114497|PMID:17312103|PMID:17544092|PMID:17576681|PMID:17878374|PMID:17893200|PMID:19663824|PMID:19814626|PMID:20621347|PMID:21057262|PMID:23538514|PMID:24033266|PMID:24316379|PMID:25344726|PMID:25741868|PMID:26472314|PMID:26698383|PMID:26825884|PMID:28492532|PMID:30073964|PMID:33083971|PMID:9536098|PMID:9789052 12162972 IRAK4 interleukin 1 receptor associated kinase 4 gene DOID:9004384 Bacterial Infections and Mycoses susceptibility ISO RGD:1313252 D RGD:9068941 20200609 RGD deficiency of IRAK4/extracellular pyogenic bacterial and fungal infections, OMIM:607676 DNA:deletion:CDS:821delT PMID:12637671|REF_RGD_ID:1600199 12162972 IRAK4 interleukin 1 receptor associated kinase 4 gene DOID:9004484 Sepsis ISO RGD:1305303 D RGD:9068941 20200609 RGD PMID:23073793|REF_RGD_ID:7495805 12162972 IRAK4 interleukin 1 receptor associated kinase 4 gene DOID:9006205 Animal Disease Models ISO RGD:1313252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28003376 12162972 IRAK4 interleukin 1 receptor associated kinase 4 gene DOID:9007480 Hyperoxia ISO RGD:1313253 D RGD:9068941 20200609 RGD PMID:15622543|REF_RGD_ID:7495804 12162972 IRAK4 interleukin 1 receptor associated kinase 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:1313252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28003376 12163004 RASL12 RAS like family 12 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1314790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055|PMID:28492532 12163004 RASL12 RAS like family 12 gene DOID:13250 diarrhea ISO RGD:1314790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diarrhea PMID:25741868|PMID:28898457 12163004 RASL12 RAS like family 12 gene DOID:2717 Bloom syndrome ISO RGD:1314790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12163004 RASL12 RAS like family 12 gene DOID:630 genetic disease ISO RGD:1314790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12163004 RASL12 RAS like family 12 gene DOID:9002010 Primary Bile Acid Malabsorption 2 ISO RGD:1314790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bile acid malabsorption, primary, 2 PMID:25741868|PMID:28898457 12163004 RASL12 RAS like family 12 gene DOID:9256 colorectal cancer ISO RGD:1314790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12163011 UPK3B uroplakin 3B gene DOID:0080600 COVID-19 ISO RGD:1320049 D RGD:9068941 20200702 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12163011 UPK3B uroplakin 3B gene DOID:630 genetic disease ISO RGD:1320049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163011 UPK3B uroplakin 3B gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1320049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12163023 BOLA2B bolA family member 2B gene DOID:0060019 coronin-1A deficiency ISO RGD:1605447 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION PMID:28492532 12163023 BOLA2B bolA family member 2B gene DOID:0060041 autism spectrum disorder ISO RGD:1605447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12163023 BOLA2B bolA family member 2B gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1605447 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12163023 BOLA2B bolA family member 2B gene DOID:12849 autistic disorder ISO RGD:1605447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12163023 BOLA2B bolA family member 2B gene DOID:5419 schizophrenia ISO RGD:1605447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12163023 BOLA2B bolA family member 2B gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1605447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12163040 PTDSS1 phosphatidylserine synthase 1 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1319019 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:24442880|PMID:28492532 12163040 PTDSS1 phosphatidylserine synthase 1 gene DOID:0111507 Lenz-Majewski hyperostotic dwarfism ISO RGD:1319019 D RGD:7240710 20180130 OMIM 12163040 PTDSS1 phosphatidylserine synthase 1 gene DOID:0111507 Lenz-Majewski hyperostotic dwarfism ISO RGD:1319019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lenz-Majewski hyperostosis syndrome PMID:10756342|PMID:15194948|PMID:24241535|PMID:25741868|PMID:2773987 12163040 PTDSS1 phosphatidylserine synthase 1 gene DOID:10907 microcephaly ISO RGD:1319019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12163040 PTDSS1 phosphatidylserine synthase 1 gene DOID:630 genetic disease ISO RGD:1319019 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12163083 PAQR6 progestin and adipoQ receptor family member 6 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12163083 PAQR6 progestin and adipoQ receptor family member 6 gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:24886237 12163083 PAQR6 progestin and adipoQ receptor family member 6 gene DOID:0111940 immunodeficiency 42 ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12163083 PAQR6 progestin and adipoQ receptor family member 6 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12163083 PAQR6 progestin and adipoQ receptor family member 6 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1323634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12163083 PAQR6 progestin and adipoQ receptor family member 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12163083 PAQR6 progestin and adipoQ receptor family member 6 gene DOID:5812 MHC class II deficiency ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12163083 PAQR6 progestin and adipoQ receptor family member 6 gene DOID:585 nephrolithiasis ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:24886237 12163083 PAQR6 progestin and adipoQ receptor family member 6 gene DOID:630 genetic disease ISO RGD:1323634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163083 PAQR6 progestin and adipoQ receptor family member 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12163092 LOC100688011 coiled-coil domain-containing protein 121-like gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1603009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12163092 LOC100688011 coiled-coil domain-containing protein 121-like gene DOID:630 genetic disease ISO RGD:1603009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163109 KLRG2 killer cell lectin like receptor G2 gene DOID:0080690 RASopathy ISO RGD:1604700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12163109 KLRG2 killer cell lectin like receptor G2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12163109 KLRG2 killer cell lectin like receptor G2 gene DOID:630 genetic disease ISO RGD:1604700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:0050848 obstructive sleep apnea severity ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA:increased expression:faucial pillar, muscle (human) PMID:20847078|REF_RGD_ID:4891917 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:0060319 cardiac arrest ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:19756023|REF_RGD_ID:4889980 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:0080208 non-alcoholic fatty liver disease disease_progression ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:27639593|REF_RGD_ID:14995335 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:27639593|REF_RGD_ID:14995335 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:0080546 non-alcoholic fatty liver ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:27639593|REF_RGD_ID:14995335 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:27639593|REF_RGD_ID:14995335 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:0080600 COVID-19 severity ISO RGD:1604061 D RGD:9068941 20200618 RGD protein:increased expression:serum (human) PMID:32427582|REF_RGD_ID:30309200 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:0080821 exercise-induced bronchoconstriction ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased secretion:lung, secretion (human) PMID:19996575|REF_RGD_ID:4892021 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:10247 pleurisy ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased secretion:lung (mouse) PMID:18672096|REF_RGD_ID:4890016 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:10534 stomach cancer disease_progression ISO RGD:1604061 D RGD:9068941 20220421 RGD mRNA:altered expression:stomach, tumor (human) PMID:29069277|REF_RGD_ID:151893464 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:10591 pre-eclampsia ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased secretion:serum (rat) PMID:19617880|REF_RGD_ID:2317272 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:10603 glucose intolerance ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:16306328|REF_RGD_ID:2307103 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:10652 Alzheimer's disease ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebrum, blood vessels (human) PMID:18440671|REF_RGD_ID:4890025 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:10763 hypertension ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum PMID:15668187|REF_RGD_ID:2307105 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:11204 allergic conjunctivitis ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:conjunctiva PMID:12682842|REF_RGD_ID:2307196 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:11446 sciatic neuropathy ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:sciatic nerve (rat) PMID:19152028|REF_RGD_ID:4890004 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:12140 Chagas disease ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:20452453|REF_RGD_ID:4889906 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:12236 primary biliary cholangitis ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12126966 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:12236 primary biliary cholangitis ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:15770052|REF_RGD_ID:14995336 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:12351 alcoholic hepatitis ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12586603 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:31258651|REF_RGD_ID:14995304 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:12375 bronchopneumonia ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:20350425|REF_RGD_ID:4892019 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:12574 posterior uveitis ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:aqueous humor, vitreous body (rat) PMID:19232006|REF_RGD_ID:4889998 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:69127 D RGD:9068941 20200609 RGD protein:altered expression:lung, T cell (mouse) PMID:19124761|REF_RGD_ID:4891880 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:13141 uveitis ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:conjunctiva, ciliary body PMID:19104678|REF_RGD_ID:2306302 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased secretion:lung, secretion (mouse) PMID:18717637|REF_RGD_ID:4891914 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA:increased expression:lung:bronchoalveolar lavage cell (human) PMID:10384061|REF_RGD_ID:4891436 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:13976 peptic esophagitis ISO RGD:69069 D RGD:9068941 20200609 RGD associated with Asthma;mRNA:increased expression:esophagus PMID:18222984|REF_RGD_ID:2307110 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:1790 malignant mesothelioma ISO RGD:1604061 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:1793 pancreatic cancer ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:19155524|REF_RGD_ID:2317567 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:1883 hepatitis C susceptibility ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with Intravenous Substance Abuse;DNA:haplotype: :rs2107538A,rs2280788G,rs2280789C (human) PMID:27304910|REF_RGD_ID:14401735 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:2043 hepatitis B disease_progression ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:19017985|REF_RGD_ID:14995327 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:2043 hepatitis B disease_progression ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:30536991|REF_RGD_ID:14401739 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:2043 hepatitis B susceptibility ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:-403G>A,-28C>G (human) PMID:22576913|PMID:23336202|REF_RGD_ID:14995330|REF_RGD_ID:14995331 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:2048 autoimmune hepatitis ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:2349 arteriosclerosis ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16259780|REF_RGD_ID:2307165 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:2349 arteriosclerosis ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:14656931|REF_RGD_ID:4890030 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:2349 arteriosclerosis ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased secretion:serum (mouse) PMID:19752857|REF_RGD_ID:4891452 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:2377 multiple sclerosis ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, frontal cortex (human) PMID:11091283|REF_RGD_ID:4890028 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:2518 orchitis ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:11897701|REF_RGD_ID:704384 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:2799 bronchiolitis obliterans ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:14611812|REF_RGD_ID:2307195 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:2799 bronchiolitis obliterans ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:19840961|REF_RGD_ID:4889978 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:2841 asthma ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8534483 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:2841 asthma ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased expression:smooth muscle cell PMID:18208670|REF_RGD_ID:2307112 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:2841 asthma ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased expression:lung, secretion (mouse) PMID:20092989|REF_RGD_ID:4891430 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:2841 asthma susceptibility ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:transition:5' utr:-403G>A (human) PMID:20430255|REF_RGD_ID:4891381 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:289 endometriosis ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium (human) PMID:18595729|REF_RGD_ID:2307108 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:2921 glomerulonephritis ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10385480 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1604061 D RGD:9068941 20200702 RGD protein:increased expression:bronchoalveolar lavage (human) PMID:15888207|REF_RGD_ID:34201108 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome ISO RGD:69127 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome ISO RGD:69127 D RGD:9068941 20200619 RGD mRNA, protein: increased expression, altered expression:lung, brain (mouse) PMID:15356152|REF_RGD_ID:30309221 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1604061 D RGD:9068941 20200618 RGD Severe Acute Respiratory Syndrome; DNA:transversion:5' utr:-28C>G (human) PMID:19258635|REF_RGD_ID:4891448 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1604061 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:16195357|REF_RGD_ID:30309218 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:69127 D RGD:9068941 20200618 RGD mRNA:increased expression:lung (mouse) PMID:32365944|REF_RGD_ID:30309207 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1604061 D RGD:9068941 20200702 RGD PMID:15781938|PMID:15865221|REF_RGD_ID:30309220|REF_RGD_ID:33769580 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:69127 D RGD:9068941 20200702 RGD PMID:32553273|REF_RGD_ID:32716426 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:2957 pulmonary tuberculosis ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:15128813|REF_RGD_ID:4892112 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:snps:5' utr:g.-403G>A rs2280788, g.-28C>G rs2107538 (human) PMID:19335954|REF_RGD_ID:4891879 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:3008 invasive ductal carcinoma ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased expression:breast, ductal carcinoma (human) PMID:18790652|REF_RGD_ID:4891911 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:3021 acute kidney failure ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased secretion:serum (mouse) PMID:19508392|REF_RGD_ID:4889990 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:3042 allergic contact dermatitis ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased expression:ear (mouse) PMID:15491423|REF_RGD_ID:1626251 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:3082 interstitial lung disease ISO RGD:69127 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:20089076|REF_RGD_ID:4891431 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, bronchial epithelium, submucosa (human) PMID:19703829|REF_RGD_ID:4891477 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:3310 atopic dermatitis ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased secretion:lung, alveolar macrophage (human) PMID:19729668|REF_RGD_ID:4891476 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:3770 pulmonary fibrosis ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17620002 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:3770 pulmonary fibrosis ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:20833968|REF_RGD_ID:4145112 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:17898087|REF_RGD_ID:2307059 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:4989 pancreatitis ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms;DNA:polymorphism: :-403G>A (human) PMID:16614115|REF_RGD_ID:2317568 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:4989 pancreatitis ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (rat) PMID:16843865|REF_RGD_ID:2307146 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:5082 liver cirrhosis severity ISO RGD:1604061 D RGD:9068941 20200609 RGD PMID:20978355|PMID:28011329|REF_RGD_ID:14995306|REF_RGD_ID:14995328 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:5082 liver cirrhosis severity ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:SNAP, haplotype: :rs11652536(human) PMID:20978355|REF_RGD_ID:14995328 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:5082 liver cirrhosis treatment ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:28011329|REF_RGD_ID:14995306 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy ISO RGD:69127 D RGD:9068941 20200609 RGD mRNA:increased expression:sciatic nerve (mouse) PMID:19050296|REF_RGD_ID:4890012 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1604061 D RGD:7240710 20230505 OMIM 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1604061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, delayed disease progression with infection by | ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid disease progression with infection by PMID:10200305|PMID:12114533|PMID:12610055 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:5434 scrapie ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:22787236|REF_RGD_ID:13782158 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:557 kidney disease ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:15882261|REF_RGD_ID:2307176 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:5844 myocardial infarction ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:18954648|REF_RGD_ID:4890013 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:630 genetic disease ISO RGD:1604061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:6432 pulmonary hypertension ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:19932032|REF_RGD_ID:4891440 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:-403G>A,-28C>G (human) PMID:22374185|REF_RGD_ID:14995333 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with alcoholic liver cirrhosis;DNA:SNP:promoter:-403G>A(human) PMID:21610221|REF_RGD_ID:14995338 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:28011329|REF_RGD_ID:14995306 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:783 end stage renal disease ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney cortex (rat) PMID:19535570|REF_RGD_ID:4889989 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA:increased expression:lung:bronchoalveolar lavage cell (human) PMID:10384061|REF_RGD_ID:4891436 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:841 extrinsic allergic alveolitis ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased secretion:lung, secretion (mouse) PMID:16387809|REF_RGD_ID:4891434 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:850 lung disease ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17304115|REF_RGD_ID:2307141 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:8704 genital herpes ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:12502811|REF_RGD_ID:4890015 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:8947 diabetic retinopathy ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor PMID:18978347|REF_RGD_ID:2307061 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:8947 diabetic retinopathy severity ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16249511|REF_RGD_ID:2307104 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9000039 Spinal Cord Injuries ISO RGD:69127 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord segment (mouse) PMID:20478301|REF_RGD_ID:4889905 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9000641 Pain ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:11438578|REF_RGD_ID:2306307 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:69127 D RGD:9068941 20200609 RGD associated with Animal Mammary Neoplasms; PMID:15692764|REF_RGD_ID:14995455 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9000972 Fever ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:15066130|REF_RGD_ID:2307192 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9001488 Human Influenza ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:20656925|REF_RGD_ID:4145452 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9001488 Human Influenza susceptibility ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:16208318|REF_RGD_ID:4892131 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69127 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver PMID:20978355|REF_RGD_ID:14995328 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9001573 Experimental Liver Cirrhosis disease_progression ISO RGD:1322355 D RGD:9068941 20200609 RGD PMID:25617348|REF_RGD_ID:14995329 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9001573 Experimental Liver Cirrhosis severity ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:20978355|REF_RGD_ID:14995328 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:22574195|REF_RGD_ID:14995337 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9002106 Pneumococcal Pneumonia susceptibility ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:16455992|REF_RGD_ID:4892130 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9002159 Liver Reperfusion Injury severity ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:28623253|REF_RGD_ID:14995305 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:28623253|REF_RGD_ID:14995305 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:urine PMID:18326229|REF_RGD_ID:2307063 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-28C>G PMID:12610055|REF_RGD_ID:2307107 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9002211 Hyperalgesia ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:18656466|REF_RGD_ID:2303121 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9002211 Hyperalgesia ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion (rat) PMID:18076762|REF_RGD_ID:4890034 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9002457 Experimental Arthritis ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:9637726|REF_RGD_ID:4889940 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9002457 Experimental Arthritis ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:synovium, monocytes PMID:17052673|REF_RGD_ID:2307143 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:20400704|REF_RGD_ID:4891397 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:17666800|REF_RGD_ID:2307114 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased expression:brain (mouse) PMID:15833367|REF_RGD_ID:4890027 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9002834 Herpesviridae Infections ISO RGD:69127 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:18768196|REF_RGD_ID:4891912 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:15823807|REF_RGD_ID:2307177 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9003281 Spontaneous Abortions ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with Pregnancy in Diabetics;protein:decreased expression:serum PMID:17924206|REF_RGD_ID:2307065 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9003671 Hypoventilation ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with Obesity; protein:increased secretion:serum (human) PMID:19701463|REF_RGD_ID:4892041 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9004009 Reperfusion Injury ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased expression:gut PMID:15542513|REF_RGD_ID:2307184 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9004009 Reperfusion Injury ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased secretion:lung, secretion (mouse) PMID:19558673|REF_RGD_ID:4891479 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:15770052|REF_RGD_ID:14995336 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:SNP: :rs3817656(human) PMID:29703961|REF_RGD_ID:14995334 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-403G>A(human) PMID:12557141|REF_RGD_ID:14995332 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: : PMID:15368437|REF_RGD_ID:14995340 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9004484 Sepsis ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (rat) PMID:18290317|REF_RGD_ID:4890036 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18985009 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9004590 Acute Liver Failure ISO RGD:1604061 D RGD:9068941 20200609 RGD protein, mRNA:increased expression:liver PMID:12579535|REF_RGD_ID:14995451 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9004659 Respiration Disorders ISO RGD:69127 D RGD:9068941 20200609 RGD Severe Acute Respiratory Syndrome; mRNA:increased expression:lung (mouse) PMID:19906920|REF_RGD_ID:4891446 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9004912 Hyperoxaluria ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284884 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9004912 Hyperoxaluria ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased expression:renal tubule, epithelial cell (rat) PMID:16284884|REF_RGD_ID:2307164 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:blood vessel endothelial cell PMID:15710456|REF_RGD_ID:2307183 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9005372 Inflammation ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:subcutaneous tissue, granuloma (rat) PMID:17164972|REF_RGD_ID:2307142 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9005372 Inflammation ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased secretion:lung, secretion (mouse) PMID:19486528|REF_RGD_ID:4891481 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9005930 Endotoxemia ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16215387|REF_RGD_ID:2307171 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased secretion:lung, secretion (human) PMID:18513272|REF_RGD_ID:4891916 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9006618 Liver Metastasis treatment ISO RGD:69127 D RGD:9068941 20200609 RGD associated with Animal Mammary Neoplasms; PMID:15692764|REF_RGD_ID:14995455 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9006646 Metabolic Syndrome ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (rat) PMID:19905967|REF_RGD_ID:4889977 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:19005677|REF_RGD_ID:4891884 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:snp:5' utr:g.-28C>G (human) PMID:19099677|REF_RGD_ID:4891881 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9007090 Experimental Seizures ISO RGD:69069 D RGD:9068941 20230128 RGD protein:increased expression:hippocampus, vasculature (rat) PMID:20940264|REF_RGD_ID:4889880 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9007244 Paramyxoviridae Infections ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus (human) PMID:20182399|REF_RGD_ID:4891406 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9007417 Pseudomonas Infections ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased expression:lung, secretion (mouse) PMID:20720199|REF_RGD_ID:4891951 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:69127 D RGD:9068941 20200702 RGD PMID:27175332|REF_RGD_ID:32733623 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased expression:inferior turbinate, epithelium (human) PMID:20459697|REF_RGD_ID:4891379 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9008113 Tissue Adhesions ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:18707039|REF_RGD_ID:4890014 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1604061 D RGD:9068941 20200609 RGD PMID:17711627|REF_RGD_ID:14995339 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9008939 Breast Neoplasms ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:18708360|REF_RGD_ID:4891915 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9351 diabetes mellitus ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18385799|REF_RGD_ID:2307062 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17966842|REF_RGD_ID:2307064 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9452 fatty liver disease ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:28011329|REF_RGD_ID:14995306 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9452 fatty liver disease ISO RGD:69127 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:28011329|REF_RGD_ID:14995306 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9743 diabetic neuropathy ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;protein:increased expression:serum PMID:19276232|REF_RGD_ID:2307060 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:SNPs:rs4251719, rs2306630, rs2107538 (human) PMID:16855620|REF_RGD_ID:2307102 12163122 CCL5 C-C motif chemokine ligand 5 gene DOID:9970 obesity ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18469848|REF_RGD_ID:2307038 12163129 FRS2 fibroblast growth factor receptor substrate 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1317842 D RGD:9068941 20200609 RGD PMID:25900027|REF_RGD_ID:11352663 12163129 FRS2 fibroblast growth factor receptor substrate 2 gene DOID:630 genetic disease ISO RGD:1317842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163190 CRMP1 collapsin response mediator protein 1 gene DOID:630 genetic disease ISO RGD:731741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163190 CRMP1 collapsin response mediator protein 1 gene DOID:6678 tooth and nail syndrome ISO RGD:731741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 12163208 NKIRAS2 NFKB inhibitor interacting Ras like 2 gene DOID:0080600 COVID-19 ISO RGD:1316518 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12163208 NKIRAS2 NFKB inhibitor interacting Ras like 2 gene DOID:630 genetic disease ISO RGD:1316518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163216 FKBPL FKBP prolyl isomerase like gene DOID:0050553 JMP syndrome ISO RGD:1353952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12163216 FKBPL FKBP prolyl isomerase like gene DOID:630 genetic disease ISO RGD:1353952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163216 FKBPL FKBP prolyl isomerase like gene DOID:9008939 Breast Neoplasms ISO RGD:1353952 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20103631 12163222 LRAT lecithin retinol acyltransferase gene DOID:0050572 cone-rod dystrophy ISO RGD:68515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868 12163222 LRAT lecithin retinol acyltransferase gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:68515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:25324289|PMID:25472526|PMID:25741868|PMID:28492532|PMID:29186038|PMID:29844330|PMID:30190494|PMID:32865313 12163222 LRAT lecithin retinol acyltransferase gene DOID:0110188 Leber congenital amaurosis 14 ISO RGD:68515 D RGD:7240710 20180130 OMIM 12163222 LRAT lecithin retinol acyltransferase gene DOID:0110188 Leber congenital amaurosis 14 ISO RGD:68515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar Annotator: match by term: RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED PMID:11381255|PMID:17011878|PMID:18055821|PMID:22025579|PMID:22559933|PMID:22570351|PMID:24265693|PMID:25741868|PMID:28492532|PMID:29186038|PMID:32865313 12163222 LRAT lecithin retinol acyltransferase gene DOID:10584 retinitis pigmentosa ISO RGD:68515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22025579|PMID:25741868|PMID:26355662|PMID:28492532|PMID:30054919|PMID:30718709 12163222 LRAT lecithin retinol acyltransferase gene DOID:10608 celiac disease ISO RGD:68515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 12163222 LRAT lecithin retinol acyltransferase gene DOID:14791 Leber congenital amaurosis ISO RGD:68515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:24033266|PMID:25741868|PMID:28492532 12163222 LRAT lecithin retinol acyltransferase gene DOID:3007 breast ductal carcinoma ISO RGD:68515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12163222 LRAT lecithin retinol acyltransferase gene DOID:630 genetic disease ISO RGD:68515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12163222 LRAT lecithin retinol acyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:68515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12163222 LRAT lecithin retinol acyltransferase gene DOID:705 Leber hereditary optic neuropathy ISO RGD:68515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16250670|PMID:17011878 12163222 LRAT lecithin retinol acyltransferase gene DOID:8501 fundus dystrophy ISO RGD:68515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 12163222 LRAT lecithin retinol acyltransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12163222 LRAT lecithin retinol acyltransferase gene DOID:9002525 Hereditary Eye Diseases ISO RGD:68515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16968212 12163222 LRAT lecithin retinol acyltransferase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12163222 LRAT lecithin retinol acyltransferase gene DOID:9008296 Eye Abnormalities ISO RGD:68515 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 12163222 LRAT lecithin retinol acyltransferase gene DOID:9008550 Vitamin A Deficiency ISO RGD:68515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16174770 12163235 PHF21A PHD finger protein 21A gene DOID:0050444 infantile Refsum disease ISO RGD:1354499 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 12163235 PHF21A PHD finger protein 21A gene DOID:0060041 autism spectrum disorder ISO RGD:1354499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12163235 PHF21A PHD finger protein 21A gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1354499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12163235 PHF21A PHD finger protein 21A gene DOID:1059 intellectual disability ISO RGD:1354499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:30487643|PMID:31649809 12163235 PHF21A PHD finger protein 21A gene DOID:4001 ovarian carcinoma ISO RGD:1354499 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 12163235 PHF21A PHD finger protein 21A gene DOID:630 genetic disease ISO RGD:1354499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12163235 PHF21A PHD finger protein 21A gene DOID:9004521 Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures ISO RGD:1354499 D RGD:7240710 20200226 OMIM 12163235 PHF21A PHD finger protein 21A gene DOID:9004521 Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures ISO RGD:1354499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures PMID:25741868|PMID:28492532|PMID:30487643|PMID:31649809 12163235 PHF21A PHD finger protein 21A gene DOID:905 Zellweger syndrome ISO RGD:1354499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 12163289 CYP27C1 cytochrome P450 family 27 subfamily C member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1605811 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12163289 CYP27C1 cytochrome P450 family 27 subfamily C member 1 gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1605811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:28492532 12163289 CYP27C1 cytochrome P450 family 27 subfamily C member 1 gene DOID:0111220 centronuclear myopathy 2 ISO RGD:1605811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 12163289 CYP27C1 cytochrome P450 family 27 subfamily C member 1 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1605811 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 12163289 CYP27C1 cytochrome P450 family 27 subfamily C member 1 gene DOID:630 genetic disease ISO RGD:1605811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163311 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:0050563 nonsyndromic deafness ISO RGD:1316090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:30311386 12163311 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1316090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 12163311 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:0110440 dilated cardiomyopathy 1J ISO RGD:1316090 D RGD:7240710 20180130 OMIM 12163311 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:0110440 dilated cardiomyopathy 1J ISO RGD:1316090 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1J PMID:10769282|PMID:11159937|PMID:15735644|PMID:16199547|PMID:17576681|PMID:23861362|PMID:23990876|PMID:24033266|PMID:25242383|PMID:25681523|PMID:25741868|PMID:25781927|PMID:25961296|PMID:25963406|PMID:26084686|PMID:26467025|PMID:26969326|PMID:27068579|PMID:28492532|PMID:28767663|PMID:28798025|PMID:28831623|PMID:29030401|PMID:30123251|PMID:30165862|PMID:30311386|PMID:30828794|PMID:31163360|PMID:32107406|PMID:32277154|PMID:33745059|PMID:34426522|PMID:9536098 12163311 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:0110542 autosomal dominant nonsyndromic deafness 10 ISO RGD:1316090 D RGD:7240710 20180130 OMIM 12163311 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:0110542 autosomal dominant nonsyndromic deafness 10 ISO RGD:1316090 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 10 | ClinVar Annotator: match by term: EYA4-Related Disorders PMID:11159937|PMID:15735644|PMID:16199547|PMID:17567890|PMID:17568404|PMID:17576681|PMID:23861362|PMID:23990876|PMID:24033266|PMID:25681523|PMID:25741868|PMID:25781927|PMID:25963406|PMID:27068579|PMID:28492532|PMID:28798025|PMID:29030401|PMID:30165862|PMID:30828794|PMID:32107406|PMID:32277154|PMID:33745059|PMID:35802133|PMID:36633841|PMID:9536098 12163311 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:10003 sensorineural hearing loss ISO RGD:1316090 D RGD:9068941 20200609 RGD DNA:deletion:introns, exon (human) PMID:15735644|REF_RGD_ID:1598455 12163311 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:10754 otitis media ISO RGD:1316091 D RGD:9068941 20220825 MouseDO OMIM:166760 12163311 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1316090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12163311 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:1316090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10769282|PMID:15735644|PMID:17567890|PMID:24033266 12163311 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:2661 myoepithelioma ISO RGD:1316090 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor PMID:24033266|PMID:25741868|PMID:28492532 12163311 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:6000 congestive heart failure ISO RGD:1316090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868|PMID:28492532 12163311 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:630 genetic disease ISO RGD:1316090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12163311 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1316090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:31333075|PMID:31568572 12163311 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:9004538 Hearing Loss ISO RGD:1316090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:28492532|PMID:30311386 12163311 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1316090 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532 12163311 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1316090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant 12163311 EYA4 EYA transcriptional coactivator and phosphatase 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 12163355 HESX1 HESX homeobox 1 gene DOID:0060857 septooptic dysplasia ISO RGD:1353119 D RGD:7240710 20200115 OMIM 12163355 HESX1 HESX homeobox 1 gene DOID:0060857 septooptic dysplasia ISO RGD:1353119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence | ClinVar Annotator: match by term: Septooptic dysplasia, mild PMID:10599689|PMID:11136712|PMID:11748154|PMID:14557462|PMID:16199547|PMID:16940453|PMID:17148560|PMID:17315526|PMID:17576681|PMID:18852528|PMID:21270112|PMID:21325470|PMID:22466334|PMID:23465708|PMID:24703149|PMID:25741868|PMID:25910213|PMID:26781211|PMID:27000987|PMID:2700987|PMID:27013732|PMID:27343026|PMID:28332357|PMID:28396770|PMID:28492532|PMID:30888394|PMID:31022718|PMID:31395954|PMID:32796691|PMID:32870266|PMID:33451138|PMID:8696006|PMID:9536098|PMID:9620767 12163355 HESX1 HESX homeobox 1 gene DOID:13938 amenorrhea ISO RGD:1353119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:21325470|PMID:23465708|PMID:24703149|PMID:25741868|PMID:28492532|PMID:32870266 12163355 HESX1 HESX homeobox 1 gene DOID:630 genetic disease ISO RGD:1353119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11136712|PMID:17315526|PMID:17576681|PMID:22145475|PMID:23465708|PMID:25741868|PMID:28492532|PMID:9536098 12163355 HESX1 HESX homeobox 1 gene DOID:9002446 Combined Pituitary Hormone Deficiency 5 ISO RGD:1353119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth hormone deficiency with pituitary anomalies | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 5 PMID:11136712|PMID:14561704|PMID:16940453|PMID:17148560|PMID:18852528|PMID:28492532|PMID:31022718|PMID:33451138 12163355 HESX1 HESX homeobox 1 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1353119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 12163355 HESX1 HESX homeobox 1 gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:1353119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant/Recessive | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 PMID:21325470|PMID:23465708|PMID:24703149|PMID:25741868|PMID:28492532|PMID:32870266 12163355 HESX1 HESX homeobox 1 gene DOID:9406 hypopituitarism ISO RGD:1558586 D RGD:9068941 20220825 MouseDO OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 12163361 ESYT3 extended synaptotagmin 3 gene DOID:630 genetic disease ISO RGD:1605327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163388 SLC7A1 solute carrier family 7 member 1 gene DOID:630 genetic disease ISO RGD:736349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163388 SLC7A1 solute carrier family 7 member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12163388 SLC7A1 solute carrier family 7 member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11401523 12163424 LZTS2 leucine zipper tumor suppressor 2 gene DOID:18 urinary system disease ISO RGD:1552566 D RGD:9068941 20220825 MouseDO 12163424 LZTS2 leucine zipper tumor suppressor 2 gene DOID:630 genetic disease ISO RGD:1343241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163446 MTFR1L mitochondrial fission regulator 1 like gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1606533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 12163446 MTFR1L mitochondrial fission regulator 1 like gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1606533 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12163446 MTFR1L mitochondrial fission regulator 1 like gene DOID:630 genetic disease ISO RGD:1606533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163457 MASP1 MBL associated serine protease 1 gene DOID:0060575 3MC syndrome 1 ISO RGD:733853 D RGD:7240710 20180130 OMIM 12163457 MASP1 MBL associated serine protease 1 gene DOID:0060575 3MC syndrome 1 ISO RGD:733853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:17937425|PMID:18266249|PMID:21035106|PMID:21258343|PMID:22966085|PMID:25741868|PMID:28492532|PMID:28534045|PMID:28794230|PMID:29407414|PMID:30601195|PMID:33144682 12163457 MASP1 MBL associated serine protease 1 gene DOID:0060576 3MC syndrome 2 ISO RGD:733853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 12163457 MASP1 MBL associated serine protease 1 gene DOID:0060577 3MC syndrome 3 ISO RGD:733853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 12163457 MASP1 MBL associated serine protease 1 gene DOID:10123 pigmentation disease ISO RGD:733853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 12163457 MASP1 MBL associated serine protease 1 gene DOID:10907 microcephaly ISO RGD:733853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12163457 MASP1 MBL associated serine protease 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12163457 MASP1 MBL associated serine protease 1 gene DOID:5419 schizophrenia ISO RGD:733853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12163457 MASP1 MBL associated serine protease 1 gene DOID:630 genetic disease ISO RGD:733853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29168297|PMID:33144682 12163457 MASP1 MBL associated serine protease 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 12163485 KLHL35 kelch like family member 35 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1603871 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12163485 KLHL35 kelch like family member 35 gene DOID:1059 intellectual disability ISO RGD:1603871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12163485 KLHL35 kelch like family member 35 gene DOID:630 genetic disease ISO RGD:1603871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163496 FAM199X family with sequence similarity 199, X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12163496 FAM199X family with sequence similarity 199, X-linked gene DOID:12849 autistic disorder ISO RGD:1348985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12163496 FAM199X family with sequence similarity 199, X-linked gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1348985 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:1720927|PMID:9633722|PMID:9634530 12163496 FAM199X family with sequence similarity 199, X-linked gene DOID:630 genetic disease ISO RGD:1348985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163506 DNAL1 dynein axonemal light chain 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1320134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:21496787 12163506 DNAL1 dynein axonemal light chain 1 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1320134 D RGD:7240710 20180130 OMIM 12163506 DNAL1 dynein axonemal light chain 1 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1320134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:17576681|PMID:21496787|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 12163506 DNAL1 dynein axonemal light chain 1 gene DOID:1059 intellectual disability ISO RGD:1320134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12163506 DNAL1 dynein axonemal light chain 1 gene DOID:630 genetic disease ISO RGD:1320134 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12163506 DNAL1 dynein axonemal light chain 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320134 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:21496787|PMID:24033266|PMID:28492532 12163518 GEM GTP binding protein overexpressed in skeletal muscle gene DOID:11372 megacolon ISO RGD:1316557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12163518 GEM GTP binding protein overexpressed in skeletal muscle gene DOID:1686 glaucoma ISO RGD:1307386 D RGD:9068941 20221027 RGD mRNA:decreased expression:optic nerve head (rat) PMID:28990066|REF_RGD_ID:155630605 12163518 GEM GTP binding protein overexpressed in skeletal muscle gene DOID:630 genetic disease ISO RGD:1316557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163533 CCDC107 coiled-coil domain containing 107 gene DOID:0050640 anauxetic dysplasia 1 ISO RGD:1605844 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia 1 PMID:10026268|PMID:11207361|PMID:11940090|PMID:12107819|PMID:12888988|PMID:14569119|PMID:16097009|PMID:16254002|PMID:16838329|PMID:17701897|PMID:25741868|PMID:28094436|PMID:28492532|PMID:8034306|PMID:9156319 12163533 CCDC107 coiled-coil domain containing 107 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1605844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12163533 CCDC107 coiled-coil domain containing 107 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1605844 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12163533 CCDC107 coiled-coil domain containing 107 gene DOID:0080942 anauxetic dysplasia ISO RGD:1605844 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:10026268|PMID:11207361|PMID:11940090|PMID:12107819|PMID:12888988|PMID:14569119|PMID:16097009|PMID:16254002|PMID:16838329|PMID:17701897|PMID:25741868|PMID:28094436|PMID:28492532|PMID:8034306|PMID:9156319 12163533 CCDC107 coiled-coil domain containing 107 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1605844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12163533 CCDC107 coiled-coil domain containing 107 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1605844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12163533 CCDC107 coiled-coil domain containing 107 gene DOID:14773 cartilage-hair hypoplasia ISO RGD:1605844 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, McKusick type PMID:10026268|PMID:11207361|PMID:11940090|PMID:12107819|PMID:12888988|PMID:14569119|PMID:16097009|PMID:16254002|PMID:16838329|PMID:17701897|PMID:25741868|PMID:28094436|PMID:28492532|PMID:8034306|PMID:9156319 12163533 CCDC107 coiled-coil domain containing 107 gene DOID:630 genetic disease ISO RGD:1605844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163533 CCDC107 coiled-coil domain containing 107 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1605844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12163533 CCDC107 coiled-coil domain containing 107 gene DOID:9007249 Metaphyseal Dysplasia without Hypotrichosis ISO RGD:1605844 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Metaphyseal dysplasia without hypotrichosis PMID:10026268|PMID:11207361|PMID:11940090|PMID:12107819|PMID:12888988|PMID:14569119|PMID:16097009|PMID:16254002|PMID:16838329|PMID:17701897|PMID:25741868|PMID:28094436|PMID:28492532|PMID:8034306|PMID:9156319 12163533 CCDC107 coiled-coil domain containing 107 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12163533 CCDC107 coiled-coil domain containing 107 gene DOID:9870 galactosemia ISO RGD:1605844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12163554 TPH1 tryptophan hydroxylase 1 gene DOID:0060249 scoliosis ISO RGD:735482 D RGD:9068941 20200609 RGD DNA:SNP:promoter: (rs10488682) (human) PMID:18794762|REF_RGD_ID:5686347 12163554 TPH1 tryptophan hydroxylase 1 gene DOID:0060249 scoliosis no_association ISO RGD:735482 D RGD:9068941 20200609 RGD DNA:SNP:promoter: (rs10488682) (human) PMID:21308753|REF_RGD_ID:5686349 12163554 TPH1 tryptophan hydroxylase 1 gene DOID:0060249 scoliosis no_association ISO RGD:735482 D RGD:9068941 20200609 RGD DNA:SNPs:multiple PMID:21192222|REF_RGD_ID:5686348 12163554 TPH1 tryptophan hydroxylase 1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:735482 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 12163554 TPH1 tryptophan hydroxylase 1 gene DOID:1059 intellectual disability ISO RGD:735482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12163554 TPH1 tryptophan hydroxylase 1 gene DOID:10652 Alzheimer's disease ISO RGD:735482 D RGD:9068941 20200609 RGD PMID:15182943|REF_RGD_ID:1580467 12163554 TPH1 tryptophan hydroxylase 1 gene DOID:10930 borderline personality disorder ISO RGD:735482 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :multiple PMID:16495936|REF_RGD_ID:5686357 12163554 TPH1 tryptophan hydroxylase 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:735482 D RGD:9068941 20200609 RGD DNA:missense mutations:exons:multiple PMID:20921119|REF_RGD_ID:5686345 12163554 TPH1 tryptophan hydroxylase 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:735482 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-6526A>G, 218A>C (human) PMID:16389593|REF_RGD_ID:1580457 12163554 TPH1 tryptophan hydroxylase 1 gene DOID:1574 alcohol use disorder ISO RGD:735482 D RGD:9068941 20200609 RGD PMID:15654285|REF_RGD_ID:1580464 12163554 TPH1 tryptophan hydroxylase 1 gene DOID:1596 depressive disorder ISO RGD:3895 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus: PMID:24495952|REF_RGD_ID:9681459 12163554 TPH1 tryptophan hydroxylase 1 gene DOID:1596 depressive disorder ISO RGD:735482 D RGD:9068941 20200609 RGD PMID:16165107|REF_RGD_ID:1580459 12163554 TPH1 tryptophan hydroxylase 1 gene DOID:1596 depressive disorder ISO RGD:735482 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:intron:218A>C, 779A>C (human) PMID:17134762|REF_RGD_ID:5686354 12163554 TPH1 tryptophan hydroxylase 1 gene DOID:5419 schizophrenia ISO RGD:735482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 12163554 TPH1 tryptophan hydroxylase 1 gene DOID:5419 schizophrenia ISO RGD:735482 D RGD:9068941 20200609 RGD PMID:15211625|REF_RGD_ID:1580466 12163554 TPH1 tryptophan hydroxylase 1 gene DOID:630 genetic disease ISO RGD:735482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12163554 TPH1 tryptophan hydroxylase 1 gene DOID:6432 pulmonary hypertension ISO RGD:735482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18506000 12163554 TPH1 tryptophan hydroxylase 1 gene DOID:6432 pulmonary hypertension severity ISO RGD:735483 D RGD:9068941 20200609 RGD PMID:17675372|REF_RGD_ID:5686352 12163554 TPH1 tryptophan hydroxylase 1 gene DOID:9000784 Fibrosis ISO RGD:735483 D RGD:9068941 20200609 RGD PMID:21518801|REF_RGD_ID:5686344 12163554 TPH1 tryptophan hydroxylase 1 gene DOID:9001310 Tobacco Use Disorder ISO RGD:735482 D RGD:9068941 20200609 RGD PMID:15635702|REF_RGD_ID:1580461 12163554 TPH1 tryptophan hydroxylase 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:735482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 12163554 TPH1 tryptophan hydroxylase 1 gene DOID:9478 postpartum depression ISO RGD:735482 D RGD:9068941 20200609 RGD PMID:15544576|REF_RGD_ID:1580465 12163572 CYP2R1 cytochrome P450 family 2 subfamily R member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1348432 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12163572 CYP2R1 cytochrome P450 family 2 subfamily R member 1 gene DOID:0080886 vitamin D-dependent rickets type 1A ISO RGD:1348432 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 PMID:10969262|PMID:15128933|PMID:16549493|PMID:24033266|PMID:25741868|PMID:25942481|PMID:28492532|PMID:28548312|PMID:8201479 12163572 CYP2R1 cytochrome P450 family 2 subfamily R member 1 gene DOID:0080887 vitamin D-dependent rickets type 1B ISO RGD:1348432 D RGD:7240710 20180130 OMIM 12163572 CYP2R1 cytochrome P450 family 2 subfamily R member 1 gene DOID:0080887 vitamin D-dependent rickets type 1B ISO RGD:1348432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1B | ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1B PMID:10969262|PMID:15128933|PMID:16549493|PMID:22855339|PMID:24033266|PMID:25741868|PMID:25942481|PMID:27716192|PMID:28492532|PMID:28548312|PMID:32115644|PMID:33715104|PMID:8201479 12163572 CYP2R1 cytochrome P450 family 2 subfamily R member 1 gene DOID:1059 intellectual disability ISO RGD:1348432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12163572 CYP2R1 cytochrome P450 family 2 subfamily R member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to PMID:28492532 12163572 CYP2R1 cytochrome P450 family 2 subfamily R member 1 gene DOID:5082 liver cirrhosis ISO RGD:1348432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 12163572 CYP2R1 cytochrome P450 family 2 subfamily R member 1 gene DOID:630 genetic disease ISO RGD:1348432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12163572 CYP2R1 cytochrome P450 family 2 subfamily R member 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1348432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 12163572 CYP2R1 cytochrome P450 family 2 subfamily R member 1 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1348432 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:IVSII+1303G>A rs10741657 (human) PMID:17607662|REF_RGD_ID:2315692 12163590 LEMD1 LEM domain containing 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1346619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12163590 LEMD1 LEM domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1346619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12163590 LEMD1 LEM domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1346619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12163590 LEMD1 LEM domain containing 1 gene DOID:630 genetic disease ISO RGD:1346619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163590 LEMD1 LEM domain containing 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1346619 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12163590 LEMD1 LEM domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12163615 SH2D5 SH2 domain containing 5 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1602949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12163615 SH2D5 SH2 domain containing 5 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1602949 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12163615 SH2D5 SH2 domain containing 5 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1602949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12163615 SH2D5 SH2 domain containing 5 gene DOID:630 genetic disease ISO RGD:1602949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163615 SH2D5 SH2 domain containing 5 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1602949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12163645 IQCF5 IQ motif containing F5 gene DOID:10487 Hirschsprung's disease ISO RGD:2303477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 12163645 IQCF5 IQ motif containing F5 gene DOID:630 genetic disease ISO RGD:2303477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163657 NKG7 natural killer cell granule protein 7 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1347836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:16510302|PMID:23785301|PMID:28492532 12163657 NKG7 natural killer cell granule protein 7 gene DOID:630 genetic disease ISO RGD:1347836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163668 MIR708 microRNA mir-708 gene DOID:10652 Alzheimer's disease ISO RGD:2290222 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25992776 12163668 MIR708 microRNA mir-708 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2290222 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12163668 MIR708 microRNA mir-708 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:2290222 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:34652879 12163671 MIR424 microRNA mir-424 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12163671 MIR424 microRNA mir-424 gene DOID:12849 autistic disorder ISO RGD:1353446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12163671 MIR424 microRNA mir-424 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1353446 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:27538595 12163671 MIR424 microRNA mir-424 gene DOID:9000918 Disease Progression ISO RGD:1353446 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:27538595 12163671 MIR424 microRNA mir-424 gene DOID:9001542 Albuminuria ISO RGD:1353446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24223694 12163724 TMC2 transmembrane channel like 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1320766 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12163724 TMC2 transmembrane channel like 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1320766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12163724 TMC2 transmembrane channel like 2 gene DOID:630 genetic disease ISO RGD:1320766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163746 CENPN centromere protein N gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1603636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 12163746 CENPN centromere protein N gene DOID:630 genetic disease ISO RGD:1603636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163772 KLHL28 kelch like family member 28 gene DOID:13636 Fanconi anemia ISO RGD:1322718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29895858|PMID:30075111 12163772 KLHL28 kelch like family member 28 gene DOID:630 genetic disease ISO RGD:1322718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163772 KLHL28 kelch like family member 28 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1322718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12163795 ANKRD45 ankyrin repeat domain 45 gene DOID:1540 parathyroid carcinoma ISO RGD:1606657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12163795 ANKRD45 ankyrin repeat domain 45 gene DOID:3755 antithrombin III deficiency ISO RGD:1606657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 12163795 ANKRD45 ankyrin repeat domain 45 gene DOID:630 genetic disease ISO RGD:1606657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163795 ANKRD45 ankyrin repeat domain 45 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1606657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 12163795 ANKRD45 ankyrin repeat domain 45 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1606657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 12163795 ANKRD45 ankyrin repeat domain 45 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12163814 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:0060074 ductal carcinoma in situ ISO RGD:69155 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:14744773|REF_RGD_ID:2290436 12163814 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:0080600 COVID-19 ISO RGD:69155 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12163814 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:1073 renal hypertension ISO RGD:69077 D RGD:9068941 20200609 RGD protein:increased expression:kidney medulla PMID:12923405|REF_RGD_ID:1302333 12163814 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:1380 endometrial cancer ISO RGD:69155 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium PMID:15273280|REF_RGD_ID:2290435 12163814 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:2154 nephroblastoma ISO RGD:69155 D RGD:9068941 20200609 RGD PMID:11466614|REF_RGD_ID:2290439 12163814 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:69155 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:12798711|REF_RGD_ID:2290420 12163814 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:69155 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17009974|REF_RGD_ID:2290414 12163814 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:4362 cervical cancer disease_progression ISO RGD:69155 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:15816637|REF_RGD_ID:2290434 12163814 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:4450 renal cell carcinoma ISO RGD:69155 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:11576837|REF_RGD_ID:2290421 12163814 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:6000 congestive heart failure ISO RGD:69077 D RGD:9068941 20200609 RGD protein:decreased expression:heart left ventricle PMID:10773234|REF_RGD_ID:2290467 12163814 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:630 genetic disease ISO RGD:69155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163814 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:7693 abdominal aortic aneurysm ISO RGD:69077 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (rat) PMID:15238617|REF_RGD_ID:1302825 12163814 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:8634 prostate carcinoma in situ ISO RGD:69155 D RGD:9068941 20200609 RGD PMID:16940965|REF_RGD_ID:2290433 12163814 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:69155 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;mRNA:increased expression:breast PMID:12828172|REF_RGD_ID:2290437 12163814 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:9001600 Wounds and Injuries ISO RGD:69077 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:carotid artery PMID:10082471|REF_RGD_ID:2290470 12163814 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69155 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12163814 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69155 D RGD:9068941 20200609 RGD PMID:16940965|REF_RGD_ID:2290433 12163814 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:9002457 Experimental Arthritis ISO RGD:69077 D RGD:9068941 20200609 RGD PMID:12483743|REF_RGD_ID:2290463 12163814 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:9003936 Cardiomegaly ISO RGD:69077 D RGD:9068941 20200609 RGD PMID:10067796|REF_RGD_ID:2290471 12163814 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:9005605 Arteriovenous Fistula ISO RGD:69077 D RGD:9068941 20200609 RGD protein:decreased expression:ileal vein PMID:17398390|REF_RGD_ID:1642040 12163814 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69077 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:12707244|REF_RGD_ID:2290461 12163814 TIMP4 TIMP metallopeptidase inhibitor 4 gene DOID:9008939 Breast Neoplasms ISO RGD:69155 D RGD:9068941 20200609 RGD PMID:9190892|REF_RGD_ID:2290455 12163823 SYNPO2L synaptopodin 2 like gene DOID:0060224 atrial fibrillation ISO RGD:1348800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12163823 SYNPO2L synaptopodin 2 like gene DOID:630 genetic disease ISO RGD:1348800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163834 BMP1 bone morphogenetic protein 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1605441 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:24033266|PMID:25741868|PMID:28492532 12163834 BMP1 bone morphogenetic protein 1 gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:1605441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:25741868 12163834 BMP1 bone morphogenetic protein 1 gene DOID:0110342 osteogenesis imperfecta type 13 ISO RGD:1605441 D RGD:7240710 20180130 OMIM 12163834 BMP1 bone morphogenetic protein 1 gene DOID:0110342 osteogenesis imperfecta type 13 ISO RGD:1605441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 13 | ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii PMID:15542026|PMID:22052668|PMID:22482805|PMID:24091809|PMID:24648371|PMID:25214535|PMID:25402547|PMID:25741868|PMID:28492532|PMID:29499418 12163834 BMP1 bone morphogenetic protein 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:1605441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive PMID:24033266|PMID:25741868 12163834 BMP1 bone morphogenetic protein 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:1605441 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:24033266|PMID:25741868|PMID:28492532 12163834 BMP1 bone morphogenetic protein 1 gene DOID:630 genetic disease ISO RGD:1605441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12163834 BMP1 bone morphogenetic protein 1 gene DOID:9000955 Acute Otitis Media ISO RGD:1551822 D RGD:9068941 20210611 RGD mRNA:increased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 12163834 BMP1 bone morphogenetic protein 1 gene DOID:9003953 Surfactant Dysfunction ISO RGD:1605441 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction PMID:24033266|PMID:28492532 12163834 BMP1 bone morphogenetic protein 1 gene DOID:9005976 Pulmonary Surfactant Metabolism Dysfunction 2 ISO RGD:1605441 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2 PMID:24033266|PMID:25741868|PMID:28492532 12163834 BMP1 bone morphogenetic protein 1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1605441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12163884 CXADR CXADR Ig-like cell adhesion molecule gene DOID:10652 Alzheimer's disease ISO RGD:1346916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 12163884 CXADR CXADR Ig-like cell adhesion molecule gene DOID:630 genetic disease ISO RGD:1346916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163884 CXADR CXADR Ig-like cell adhesion molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12163884 CXADR CXADR Ig-like cell adhesion molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12163902 GPBP1L1 GC-rich promoter binding protein 1 like 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12163902 GPBP1L1 GC-rich promoter binding protein 1 like 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12163902 GPBP1L1 GC-rich promoter binding protein 1 like 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12163902 GPBP1L1 GC-rich promoter binding protein 1 like 1 gene DOID:13938 amenorrhea ISO RGD:1605641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12163902 GPBP1L1 GC-rich promoter binding protein 1 like 1 gene DOID:630 genetic disease ISO RGD:1605641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163923 RMND5A required for meiotic nuclear division 5 homolog A gene DOID:630 genetic disease ISO RGD:1604311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163923 RMND5A required for meiotic nuclear division 5 homolog A gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1604311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 12163942 ALDH8A1 aldehyde dehydrogenase 8 family member A1 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1319646 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12163942 ALDH8A1 aldehyde dehydrogenase 8 family member A1 gene DOID:13580 cholestasis ISO RGD:1319646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12163942 ALDH8A1 aldehyde dehydrogenase 8 family member A1 gene DOID:630 genetic disease ISO RGD:1319646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12163964 GCDH glutaryl-CoA dehydrogenase gene DOID:0050990 episodic ataxia type 2 ISO RGD:1318826 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12163964 GCDH glutaryl-CoA dehydrogenase gene DOID:0060787 hypomyelinating leukodystrophy 2 ISO RGD:1318826 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 PMID:10699052|PMID:11854167|PMID:15505393|PMID:16602100|PMID:17622945|PMID:25741868|PMID:28302372|PMID:28492532|PMID:8900227 12163964 GCDH glutaryl-CoA dehydrogenase gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1318826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12163964 GCDH glutaryl-CoA dehydrogenase gene DOID:0111254 glutaric acidemia I ISO RGD:1318826 D RGD:7240710 20180130 OMIM 12163964 GCDH glutaryl-CoA dehydrogenase gene DOID:0111254 glutaric acidemia I ISO RGD:1318826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10066389|PMID:10371528|PMID:10384381|PMID:10649503|PMID:10699052|PMID:10960496|PMID:11015709|PMID:11024031|PMID:11058907|PMID:11073722|PMID:11174631|PMID:11508549|PMID:11825066|PMID:11854167|PMID:12199454|PMID:12210585|PMID:12473778|PMID:12872844|PMID:12948740|PMID:14691600|PMID:14707522|PMID:15248096|PMID:15318278|PMID:15505393|PMID:15505400|PMID:15573311|PMID:15954035|PMID:16183314|PMID:16199547|PMID:16377226|PMID:16466958|PMID:16488172|PMID:16602100|PMID:16641220|PMID:17188916|PMID:17478444|PMID:17576681|PMID:17622945|PMID:17642054|PMID:17661081|PMID:18285246|PMID:18304851|PMID:18411069|PMID:18459892|PMID:18683078|PMID:18775954|PMID:18926513|PMID:19167251|PMID:19433275|PMID:19433437|PMID:19486177|PMID:1951469|PMID:19630565|PMID:20084589|PMID:20514322|PMID:20629163|PMID:20732827|PMID:20836999|PMID:20960650|PMID:20978942|PMID:21031586|PMID:21176883|PMID:21228398|PMID:21811973|PMID:21912879|PMID:22106832|PMID:22231382|PMID:22728054|PMID:23104440|PMID:23225040|PMID:23395213|PMID:23884036|PMID:24332224|PMID:24795062|PMID:24973495|PMID:25087612|PMID:25190159|PMID:25204480|PMID:25255367|PMID:25256449|PMID:25590979|PMID:25735478|PMID:25741868|PMID:25762492|PMID:25863083|PMID:26071121|PMID:26316201|PMID:26589311|PMID:26593172|PMID:26633542|PMID:26656312|PMID:26847429|PMID:27243974|PMID:27250579|PMID:27351573|PMID:27397597|PMID:27476540|PMID:27629047|PMID:27672653|PMID:27896087|PMID:28062662|PMID:28143689|PMID:28302372|PMID:28352331|PMID:28389991|PMID:28411331|PMID:28438223|PMID:28492532|PMID:28781846|PMID:28794906|PMID:28991257|PMID:29086383|PMID:29201125|PMID:29292490|PMID:29419857|PMID:29665094|PMID:30203563|PMID:30217722|PMID:30298489|PMID:30512148|PMID:30570710|PMID:30838298|PMID:31062211|PMID:31130284|PMID:31302874|PMID:31319225|PMID:31491587|PMID:31536184|PMID:31589614|PMID:31788423|PMID:31952437|PMID:32005694|PMID:32240488|PMID:32508882|PMID:32778825|PMID:32992790|PMID:33064266|PMID:33116287|PMID:33123633|PMID:33138774|PMID:33728242|PMID:34207159|PMID:34258142|PMID:34306040|PMID:34344405|PMID:34394177|PMID:34504725|PMID:35281663|PMID:6377226|PMID:7795610|PMID:8541831|PMID:8900227|PMID:8900228|PMID:9266361|PMID:9536098|PMID:9600243|PMID:9711871|PMID:9856558|PMID:9881681 12163964 GCDH glutaryl-CoA dehydrogenase gene DOID:0111400 congenital dyserythropoietic anemia type IV ISO RGD:1318826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type IV PMID:11825066|PMID:17576681|PMID:25741868|PMID:28492532|PMID:31536184|PMID:7795610|PMID:9536098 12163964 GCDH glutaryl-CoA dehydrogenase gene DOID:1059 intellectual disability ISO RGD:1318826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12163964 GCDH glutaryl-CoA dehydrogenase gene DOID:3413 alpha-mannosidosis ISO RGD:1318826 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12163964 GCDH glutaryl-CoA dehydrogenase gene DOID:630 genetic disease ISO RGD:1318826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10649503|PMID:10699052|PMID:10960496|PMID:11073722|PMID:15505393|PMID:18459892|PMID:18775954|PMID:19433275|PMID:20732827|PMID:21912879|PMID:24332224|PMID:24973495|PMID:25256449|PMID:25741868|PMID:25762492|PMID:26071121|PMID:26847429|PMID:27397597|PMID:28352331|PMID:28438223|PMID:28492532|PMID:28794906|PMID:30570710|PMID:31062211|PMID:31491587|PMID:31536184|PMID:32240488|PMID:32992790|PMID:35281663|PMID:8900227|PMID:9266361|PMID:9600243|PMID:9711871|PMID:9881681 12163964 GCDH glutaryl-CoA dehydrogenase gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1318826 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:28492532 12163964 GCDH glutaryl-CoA dehydrogenase gene DOID:9009132 Glutaric Aciduria ISO RGD:1318826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric acidemia PMID:25741868|PMID:28492532 12163980 TUBGCP3 tubulin gamma complex associated protein 3 gene DOID:2222 factor X deficiency ISO RGD:1313927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12163980 TUBGCP3 tubulin gamma complex associated protein 3 gene DOID:630 genetic disease ISO RGD:1313927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164006 SP100 SP100 nuclear antigen gene DOID:0060476 Perlman syndrome ISO RGD:1348100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12164006 SP100 SP100 nuclear antigen gene DOID:0110991 Joubert syndrome 22 ISO RGD:1348100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12164006 SP100 SP100 nuclear antigen gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12164006 SP100 SP100 nuclear antigen gene DOID:630 genetic disease ISO RGD:1348100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164054 LDHB lactate dehydrogenase B gene DOID:0060074 ductal carcinoma in situ ISO RGD:735463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23437403 12164054 LDHB lactate dehydrogenase B gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:735463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532 12164054 LDHB lactate dehydrogenase B gene DOID:4450 renal cell carcinoma ISO RGD:735463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 12164054 LDHB lactate dehydrogenase B gene DOID:630 genetic disease ISO RGD:735463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164054 LDHB lactate dehydrogenase B gene DOID:655 inherited metabolic disorder ISO RGD:735463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2334429 12164054 LDHB lactate dehydrogenase B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12164054 LDHB lactate dehydrogenase B gene DOID:9001686 Acute Coronary Syndrome ISO RGD:735463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 12164054 LDHB lactate dehydrogenase B gene DOID:9002304 Prostatic Neoplasms ISO RGD:735463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 12164054 LDHB lactate dehydrogenase B gene DOID:9002868 Lactate Dehydrogenase B Deficiency ISO RGD:735463 D RGD:7240710 20180130 OMIM 12164054 LDHB lactate dehydrogenase B gene DOID:9002868 Lactate Dehydrogenase B Deficiency ISO RGD:735463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lactate dehydrogenase B deficiency PMID:10509905|PMID:1587525|PMID:2334429|PMID:28492532|PMID:8314553 12164054 LDHB lactate dehydrogenase B gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 12164054 LDHB lactate dehydrogenase B gene DOID:9008939 Breast Neoplasms ISO RGD:735463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23437403 12164066 ADPGK ADP dependent glucokinase gene DOID:0110225 Brugada syndrome 8 ISO RGD:1353628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 12164066 ADPGK ADP dependent glucokinase gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12164066 ADPGK ADP dependent glucokinase gene DOID:2717 Bloom syndrome ISO RGD:1353628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12164066 ADPGK ADP dependent glucokinase gene DOID:3320 Tay-Sachs disease ISO RGD:1353628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 12164066 ADPGK ADP dependent glucokinase gene DOID:5419 schizophrenia ISO RGD:1353628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12164066 ADPGK ADP dependent glucokinase gene DOID:630 genetic disease ISO RGD:1353628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164066 ADPGK ADP dependent glucokinase gene DOID:9256 colorectal cancer ISO RGD:1353628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12164079 ETNPPL ethanolamine-phosphate phospho-lyase gene DOID:630 genetic disease ISO RGD:1350227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164095 ATP13A3 ATPase 13A3 gene DOID:630 genetic disease ISO RGD:1353842 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12164095 ATP13A3 ATPase 13A3 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1353842 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868|PMID:28492532|PMID:30679663|PMID:31727138|PMID:34493544|PMID:35204766 12164095 ATP13A3 ATPase 13A3 gene DOID:9007822 Primary Pulmonary Hypertension, 5 ISO RGD:1353842 D RGD:7240710 20220608 OMIM 12164095 ATP13A3 ATPase 13A3 gene DOID:9007822 Primary Pulmonary Hypertension, 5 ISO RGD:1353842 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PULMONARY HYPERTENSION, PRIMARY, 5, AUTOSOMAL RECESSIVE PMID:25741868|PMID:28492532|PMID:30679663|PMID:31727138|PMID:34493544|PMID:35204766 12164145 ODF4 outer dense fiber of sperm tails 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1346133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:28492532 12164145 ODF4 outer dense fiber of sperm tails 4 gene DOID:2729 dyskeratosis congenita ISO RGD:1346133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12164145 ODF4 outer dense fiber of sperm tails 4 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1346133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12164145 ODF4 outer dense fiber of sperm tails 4 gene DOID:630 genetic disease ISO RGD:1346133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164153 IRAK1BP1 interleukin 1 receptor associated kinase 1 binding protein 1 gene DOID:0050888 syndromic intellectual disability ISO RGD:1312787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:27900362|PMID:28708303 12164153 IRAK1BP1 interleukin 1 receptor associated kinase 1 binding protein 1 gene DOID:12849 autistic disorder ISO RGD:1312787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:25741868|PMID:28492532 12164153 IRAK1BP1 interleukin 1 receptor associated kinase 1 binding protein 1 gene DOID:12894 Sjogren's syndrome ISO RGD:1312787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 12164153 IRAK1BP1 interleukin 1 receptor associated kinase 1 binding protein 1 gene DOID:630 genetic disease ISO RGD:1312787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:33004838 12164153 IRAK1BP1 interleukin 1 receptor associated kinase 1 binding protein 1 gene DOID:9000949 DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES ISO RGD:1312787 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM PMID:23033978|PMID:25741868|PMID:28492532|PMID:29209020 12164153 IRAK1BP1 interleukin 1 receptor associated kinase 1 binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312787 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12164168 ZHX2 zinc fingers and homeoboxes 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1342946 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 12164168 ZHX2 zinc fingers and homeoboxes 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1342946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12164168 ZHX2 zinc fingers and homeoboxes 2 gene DOID:630 genetic disease ISO RGD:1342946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164179 GUF1 GTP binding elongation factor GUF1 gene DOID:0080427 developmental and epileptic encephalopathy 40 ISO RGD:1602319 D RGD:7240710 20190315 OMIM 12164179 GUF1 GTP binding elongation factor GUF1 gene DOID:0080427 developmental and epileptic encephalopathy 40 ISO RGD:1602319 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 40 PMID:25741868|PMID:26486472|PMID:28492532|PMID:30945278 12164179 GUF1 GTP binding elongation factor GUF1 gene DOID:2843 long QT syndrome ISO RGD:1602319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12164179 GUF1 GTP binding elongation factor GUF1 gene DOID:630 genetic disease ISO RGD:1602319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12164204 TEC tec protein tyrosine kinase gene DOID:630 genetic disease ISO RGD:732236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164226 ZACN zinc activated ion channel gene DOID:630 genetic disease ISO RGD:1604695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164226 ZACN zinc activated ion channel gene DOID:9009012 NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY ISO RGD:1604695 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and brain atrophy 12164237 GLYCTK glycerate kinase gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1604750 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12164237 GLYCTK glycerate kinase gene DOID:0111626 D-glyceric aciduria ISO RGD:1604750 D RGD:7240710 20180130 OMIM 12164237 GLYCTK glycerate kinase gene DOID:0111626 D-glyceric aciduria ISO RGD:1604750 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: D-Glyceric aciduria PMID:20949620|PMID:25741868|PMID:28492532|PMID:29695758|PMID:4434100 12164237 GLYCTK glycerate kinase gene DOID:630 genetic disease ISO RGD:1604750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12164254 VSIG10 V-set and immunoglobulin domain containing 10 gene DOID:630 genetic disease ISO RGD:1607028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164273 TUBA8 tubulin alpha 8 gene DOID:0060224 atrial fibrillation ISO RGD:1352677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12164273 TUBA8 tubulin alpha 8 gene DOID:0080482 peroxisome biogenesis disorder 7A ISO RGD:1352677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A (Zellweger) PMID:12851857|PMID:21031596|PMID:28492532 12164273 TUBA8 tubulin alpha 8 gene DOID:0111996 immunodeficiency 51 ISO RGD:1352677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12164273 TUBA8 tubulin alpha 8 gene DOID:10907 microcephaly ISO RGD:1352677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:31481326 12164273 TUBA8 tubulin alpha 8 gene DOID:11198 DiGeorge syndrome ISO RGD:1352677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 12164273 TUBA8 tubulin alpha 8 gene DOID:630 genetic disease ISO RGD:1352677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12164273 TUBA8 tubulin alpha 8 gene DOID:9003883 Isolated Macrothrombocytopenia 2, Autosomal Dominant ISO RGD:1352677 D RGD:7240710 20220504 OMIM 12164273 TUBA8 tubulin alpha 8 gene DOID:9003883 Isolated Macrothrombocytopenia 2, Autosomal Dominant ISO RGD:1352677 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Macrothrombocytopenia, isolated, 2, autosomal dominant PMID:25741868|PMID:28492532|PMID:34704371 12164273 TUBA8 tubulin alpha 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12164273 TUBA8 tubulin alpha 8 gene DOID:9006775 Polymicrogyria with Optic Nerve Hypoplasia ISO RGD:1352677 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polymicrogyria with optic nerve hypoplasia PMID:18414213|PMID:19896110|PMID:20466094|PMID:25741868|PMID:26467025|PMID:28388629|PMID:28492532|PMID:34704371 12164273 TUBA8 tubulin alpha 8 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1352677 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12164283 CGNL1 cingulin like 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1353387 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12164283 CGNL1 cingulin like 1 gene DOID:2717 Bloom syndrome ISO RGD:1353387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12164283 CGNL1 cingulin like 1 gene DOID:630 genetic disease ISO RGD:1353387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164283 CGNL1 cingulin like 1 gene DOID:9256 colorectal cancer ISO RGD:1353387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12164314 DSCAM DS cell adhesion molecule gene DOID:10485 esophageal atresia ISO RGD:732493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12164314 DSCAM DS cell adhesion molecule gene DOID:10487 Hirschsprung's disease ISO RGD:732493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 12164314 DSCAM DS cell adhesion molecule gene DOID:1059 intellectual disability ISO RGD:732493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12164314 DSCAM DS cell adhesion molecule gene DOID:12849 autistic disorder ISO RGD:732493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12164314 DSCAM DS cell adhesion molecule gene DOID:303 substance-related disorder ISO RGD:732493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12164314 DSCAM DS cell adhesion molecule gene DOID:630 genetic disease ISO RGD:732493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28191889 12164314 DSCAM DS cell adhesion molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12164314 DSCAM DS cell adhesion molecule gene DOID:9005369 Hepatomegaly ISO RGD:732493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12164349 CASP10 caspase 10 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1347736 D RGD:7240710 20180130 OMIM 12164349 CASP10 caspase 10 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1347736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:11973654|PMID:12010812 12164349 CASP10 caspase 10 gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1347736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:16446975|PMID:22995991|PMID:25741868|PMID:28492532 12164349 CASP10 caspase 10 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1347736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12164349 CASP10 caspase 10 gene DOID:0110115 autoimmune lymphoproliferative syndrome type 2A ISO RGD:1347736 D RGD:7240710 20180130 OMIM 12164349 CASP10 caspase 10 gene DOID:0110115 autoimmune lymphoproliferative syndrome type 2A ISO RGD:1347736 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2A PMID:10412980|PMID:11973654|PMID:16199547|PMID:16446975|PMID:17576681|PMID:17999750|PMID:21382177|PMID:22995991|PMID:24033266|PMID:25640679|PMID:25741868|PMID:27535533|PMID:27577878|PMID:27799292|PMID:27872624|PMID:28492532|PMID:34329798|PMID:9536098 12164349 CASP10 caspase 10 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1347736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12164349 CASP10 caspase 10 gene DOID:10534 stomach cancer ISO RGD:1347736 D RGD:7240710 20220209 OMIM 12164349 CASP10 caspase 10 gene DOID:10534 stomach cancer ISO RGD:1347736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:11973654|PMID:12010812|PMID:28492532 12164349 CASP10 caspase 10 gene DOID:1909 melanoma ISO RGD:1347736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18563783 12164349 CASP10 caspase 10 gene DOID:630 genetic disease ISO RGD:1347736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12164349 CASP10 caspase 10 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1347736 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:11973654|PMID:27577878|PMID:27872624|PMID:28492532|PMID:34329798 12164349 CASP10 caspase 10 gene DOID:9000217 Stomach Neoplasms ISO RGD:1347736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:25741868 12164349 CASP10 caspase 10 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1347736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12164349 CASP10 caspase 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12164349 CASP10 caspase 10 gene DOID:9004464 Skin Neoplasms ISO RGD:1347736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18563783 12164349 CASP10 caspase 10 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1347736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12164361 SIX4 SIX homeobox 4 gene DOID:630 genetic disease ISO RGD:1315508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164361 SIX4 SIX homeobox 4 gene DOID:9007844 Branchiootic Syndrome 3 ISO RGD:1315508 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Branchiootic syndrome 3 PMID:18666230|PMID:25414181|PMID:28492532 12164372 FLVCR2 FLVCR heme transporter 2 gene DOID:0080600 COVID-19 ISO RGD:1352163 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12164372 FLVCR2 FLVCR heme transporter 2 gene DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome ISO RGD:1352163 D RGD:7240710 20180130 OMIM 12164372 FLVCR2 FLVCR heme transporter 2 gene DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome ISO RGD:1352163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fowler syndrome | ClinVar Annotator: match by term: HYDROCEPHALY/HYDRANENCEPHALY DUE TO CEREBRAL VASCULOPATHY | ClinVar Annotator: match by term: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome PMID:19635601|PMID:20206334|PMID:20518025|PMID:20690116|PMID:24033266|PMID:25677735|PMID:25741868|PMID:28492532|PMID:32369449 12164372 FLVCR2 FLVCR heme transporter 2 gene DOID:1059 intellectual disability ISO RGD:1352163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12164372 FLVCR2 FLVCR heme transporter 2 gene DOID:630 genetic disease ISO RGD:1352163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:33981013 12164372 FLVCR2 FLVCR heme transporter 2 gene DOID:9008679 Posterior Column Ataxia with Retinitis Pigmentosa ISO RGD:1352163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Posterior column ataxia with retinitis pigmentosa PMID:20206334|PMID:20518025|PMID:25741868|PMID:28492532 12164392 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:0080016 spina bifida ISO RGD:1593621 D RGD:9068941 20200609 RGD PMID:20515739|REF_RGD_ID:9491842 12164392 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:14731 Weaver syndrome ISO RGD:1344509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Weaver syndrome PMID:25741868|PMID:30019515 12164392 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:1909 melanoma ISO RGD:1344509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 12164392 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:1969 cerebral palsy ISO RGD:1344509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12164392 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:3068 glioblastoma ISO RGD:1344509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 12164392 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:3070 high grade glioma ISO RGD:1344509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 12164392 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:3192 neurilemmoma ISO RGD:1344509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 12164392 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:3307 teratoma ISO RGD:1344509 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 12164392 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:5176 renal Wilms' tumor ISO RGD:1344509 D RGD:9068941 20221103 RGD human tumor in mouse model PMID:18467665|REF_RGD_ID:155631277 12164392 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:630 genetic disease ISO RGD:1344509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164392 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:657 adenoma ISO RGD:1344509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 12164392 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9001800 IMAGAWA-MATSUMOTO SYNDROME ISO RGD:1344509 D RGD:7240710 20200318 OMIM 12164392 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9001800 IMAGAWA-MATSUMOTO SYNDROME ISO RGD:1344509 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Imagawa-Matsumoto syndrome PMID:25741868|PMID:28229514|PMID:28492532|PMID:30019515|PMID:31736240 12164392 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9004217 Nerve Sheath Neoplasms ISO RGD:1344509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25240281|PMID:25305755 12164392 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344509 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12164392 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9005120 Pigmented Nevus ISO RGD:1344509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 12164392 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1619223 D RGD:9068941 20221103 RGD mRNA:altered expression:kidney (mouse) PMID:18467665|REF_RGD_ID:155631277 12164392 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9007715 Endometrial Neoplasms ISO RGD:1344509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264096 12164392 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1344509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12164392 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9008386 Hydrops Fetalis ISO RGD:1344509 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 12164392 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9008582 Developmental Disease ISO RGD:1344509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12164392 SUZ12 SUZ12 polycomb repressive complex 2 subunit gene DOID:962 neurofibroma ISO RGD:1344509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 12164417 FBXW5 F-box and WD repeat domain containing 5 gene DOID:0050777 Joubert syndrome ISO RGD:1313822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12164417 FBXW5 F-box and WD repeat domain containing 5 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1313822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12164417 FBXW5 F-box and WD repeat domain containing 5 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1313822 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12164417 FBXW5 F-box and WD repeat domain containing 5 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1313822 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12164417 FBXW5 F-box and WD repeat domain containing 5 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1313822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12164417 FBXW5 F-box and WD repeat domain containing 5 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1313822 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12164417 FBXW5 F-box and WD repeat domain containing 5 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1313822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12164417 FBXW5 F-box and WD repeat domain containing 5 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1313822 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12164417 FBXW5 F-box and WD repeat domain containing 5 gene DOID:0081097 Rafiq syndrome ISO RGD:1313822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12164417 FBXW5 F-box and WD repeat domain containing 5 gene DOID:1826 epilepsy ISO RGD:1313822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12164417 FBXW5 F-box and WD repeat domain containing 5 gene DOID:3652 Leigh disease ISO RGD:1313822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12164417 FBXW5 F-box and WD repeat domain containing 5 gene DOID:630 genetic disease ISO RGD:1313822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164417 FBXW5 F-box and WD repeat domain containing 5 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1313822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12164433 CD93 CD93 molecule gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:1351917 D RGD:9068941 20220310 RGD PMID:32626543|REF_RGD_ID:151665104 12164433 CD93 CD93 molecule gene DOID:630 genetic disease ISO RGD:1351917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164439 CHMP7 charged multivesicular body protein 7 gene DOID:630 genetic disease ISO RGD:1602310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164439 CHMP7 charged multivesicular body protein 7 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1602310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12164453 ANKRD13A ankyrin repeat domain 13A gene DOID:630 genetic disease ISO RGD:1318431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164472 POU4F1 POU class 4 homeobox 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1346307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12164472 POU4F1 POU class 4 homeobox 1 gene DOID:630 genetic disease ISO RGD:1346307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164472 POU4F1 POU class 4 homeobox 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1346307 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:20190800 12164472 POU4F1 POU class 4 homeobox 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1346307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21928122 12164472 POU4F1 POU class 4 homeobox 1 gene DOID:9006671 ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET ISO RGD:1346307 D RGD:7240710 20210811 OMIM 12164472 POU4F1 POU class 4 homeobox 1 gene DOID:9006671 ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET ISO RGD:1346307 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ataxia, intention tremor, and hypotonia syndrome, childhood-onset PMID:29758562|PMID:33783914 12164472 POU4F1 POU class 4 homeobox 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1346307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 12164479 HAAO 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:12858 Huntington's disease ISO RGD:71071 D RGD:9068941 20200609 RGD PMID:2527078|REF_RGD_ID:13524507 12164479 HAAO 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:1936 atherosclerosis treatment ISO RGD:731776 D RGD:9068941 20230413 RGD Ldlr knockout mouse PMID:31589306|REF_RGD_ID:243065123 12164479 HAAO 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:3883 Lynch syndrome ISO RGD:731775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12164479 HAAO 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:5419 schizophrenia ISO RGD:731775 D RGD:9068941 20200609 RGD protein:decreased activity:brain: PMID:21036897|REF_RGD_ID:13513905 12164479 HAAO 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:630 genetic disease ISO RGD:731775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164479 HAAO 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:9000808 Hypercholesterolemia treatment ISO RGD:731776 D RGD:9068941 20230413 RGD Ldlr knockout mouse PMID:31589306|REF_RGD_ID:243065123 12164479 HAAO 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:9005044 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 ISO RGD:731775 D RGD:7240710 20190315 OMIM 12164479 HAAO 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:9005044 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 ISO RGD:731775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vertebral, cardiac, renal, and limb defects syndrome 1 PMID:25741868|PMID:28792876|PMID:33942433 12164501 CYP2F1 cytochrome P450 family 2 subfamily F member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1351527 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12164501 CYP2F1 cytochrome P450 family 2 subfamily F member 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1351527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12164501 CYP2F1 cytochrome P450 family 2 subfamily F member 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1351527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12164501 CYP2F1 cytochrome P450 family 2 subfamily F member 1 gene DOID:2340 craniosynostosis ISO RGD:1351527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12164501 CYP2F1 cytochrome P450 family 2 subfamily F member 1 gene DOID:630 genetic disease ISO RGD:1351527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164501 CYP2F1 cytochrome P450 family 2 subfamily F member 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:733763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 12164501 CYP2F1 cytochrome P450 family 2 subfamily F member 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1351527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12164501 CYP2F1 cytochrome P450 family 2 subfamily F member 1 gene DOID:9269 maple syrup urine disease ISO RGD:1351527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12164519 RGS9BP regulator of G protein signaling 9 binding protein gene DOID:0050335 bradyopsia ISO RGD:1601793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bradyopsia PMID:14702087|PMID:25741868|PMID:28492532 12164519 RGS9BP regulator of G protein signaling 9 binding protein gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1601793 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12164519 RGS9BP regulator of G protein signaling 9 binding protein gene DOID:630 genetic disease ISO RGD:1601793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12164519 RGS9BP regulator of G protein signaling 9 binding protein gene DOID:9003661 Bradyopsia 2 ISO RGD:1601793 D RGD:7240710 20230505 OMIM 12164519 RGS9BP regulator of G protein signaling 9 binding protein gene DOID:9003661 Bradyopsia 2 ISO RGD:1601793 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Prolonged electroretinal response suppression 2 PMID:19818506 12164524 PPP4R3A protein phosphatase 4 regulatory subunit 3A gene DOID:0080054 achondrogenesis type IA ISO RGD:1319189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12164577 FOXO6 forkhead box O6 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:2292467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12164649 DLC1 DLC1 Rho GTPase activating protein gene DOID:0080074 neural tube defect ISO RGD:68616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:25741868 12164649 DLC1 DLC1 Rho GTPase activating protein gene DOID:13938 amenorrhea ISO RGD:68616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12164649 DLC1 DLC1 Rho GTPase activating protein gene DOID:14566 disease of cellular proliferation ISO RGD:68616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21455586 12164649 DLC1 DLC1 Rho GTPase activating protein gene DOID:1520 colon carcinoma ISO RGD:68616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:10649492 12164649 DLC1 DLC1 Rho GTPase activating protein gene DOID:630 genetic disease ISO RGD:68616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12164649 DLC1 DLC1 Rho GTPase activating protein gene DOID:9000217 Stomach Neoplasms ISO RGD:68616 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26401016 12164649 DLC1 DLC1 Rho GTPase activating protein gene DOID:9002762 Ovarian Neoplasms ISO RGD:68616 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15674352 12164649 DLC1 DLC1 Rho GTPase activating protein gene DOID:9008443 Colorectal Neoplasms ISO RGD:68616 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 12164649 DLC1 DLC1 Rho GTPase activating protein gene DOID:9256 colorectal cancer ISO RGD:68616 D RGD:7240710 20200226 OMIM 12164649 DLC1 DLC1 Rho GTPase activating protein gene DOID:9256 colorectal cancer ISO RGD:68616 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25741868|PMID:28492532 12164676 OLA1 Obg like ATPase 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1604016 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12164676 OLA1 Obg like ATPase 1 gene DOID:10283 prostate cancer ISO RGD:1604016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12164676 OLA1 Obg like ATPase 1 gene DOID:630 genetic disease ISO RGD:1604016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164689 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1350002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25326635|PMID:25741868|PMID:28492532 12164689 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:0112068 nuclear type mitochondrial complex I deficiency 5 ISO RGD:1350002 D RGD:7240710 20190315 OMIM 12164689 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:0112068 nuclear type mitochondrial complex I deficiency 5 ISO RGD:1350002 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 PMID:11349233|PMID:15824269|PMID:19167255|PMID:20382551|PMID:20819849|PMID:21203893|PMID:21458341|PMID:22200994|PMID:25741868|PMID:28492532 12164689 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1350002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 12164689 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:11372 megacolon ISO RGD:1350002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12164689 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1350002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9527842 12164689 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:14330 Parkinson's disease onset ISO RGD:1551403 D RGD:9068941 20200609 RGD protein:increased oxidation:brain, mitochondrion (mouse) PMID:21196577|REF_RGD_ID:6484690 12164689 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1350002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12164689 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:1485 cystic fibrosis ISO RGD:1551403 D RGD:9068941 20200609 RGD protein:increased oxidation:colonic epithelium, mitochondrion (mouse) PMID:21518732|REF_RGD_ID:6484688 12164689 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:3652 Leigh disease ISO RGD:1350002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:25741868|PMID:28492532 12164689 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:3687 MELAS syndrome ISO RGD:1350002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke PMID:22499341 12164689 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:630 genetic disease ISO RGD:1350002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12164689 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:655 inherited metabolic disorder ISO RGD:1350002 D RGD:9068941 20200609 RGD mitochondrial complex I deficiency, OMIM:252010, deletion:664delCAT, point mutation:D252G PMID:11349233|REF_RGD_ID:1556706 12164689 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1350002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12164689 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1350002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:28492532 12164689 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:9000918 Disease Progression ISO RGD:1350002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12164689 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12164689 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:1359670 D RGD:9068941 20200609 RGD PMID:21700931|REF_RGD_ID:13801200 12164715 ARMC8 armadillo repeat containing 8 gene DOID:630 genetic disease ISO RGD:1601876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164749 KCNS1 potassium voltage-gated channel modifier subfamily S member 1 gene DOID:2234 focal epilepsy ISO RGD:735720 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12164749 KCNS1 potassium voltage-gated channel modifier subfamily S member 1 gene DOID:630 genetic disease ISO RGD:735720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164749 KCNS1 potassium voltage-gated channel modifier subfamily S member 1 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:735720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12164754 MC3R melanocortin 3 receptor gene DOID:630 genetic disease ISO RGD:1345990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164754 MC3R melanocortin 3 receptor gene DOID:9004713 Acute-Phase Reaction ISO RGD:3056 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:22183812|REF_RGD_ID:6484138 12164754 MC3R melanocortin 3 receptor gene DOID:9970 obesity ISO RGD:1345990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Body mass index quantitative trait locus 9 | ClinVar Annotator: match by term: Obesity PMID:11889220|PMID:15276649|PMID:15292330|PMID:18231126|PMID:19091795|PMID:21047972|PMID:25741868|PMID:28492532 12164754 MC3R melanocortin 3 receptor gene DOID:9970 obesity susceptibility ISO RGD:1345990 D RGD:7240710 20190502 OMIM 12164764 NKX1-2 NK1 homeobox 2 gene DOID:630 genetic disease ISO RGD:1315537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164770 KATNAL2 katanin catalytic subunit A1 like 2 gene DOID:0060356 Vici syndrome ISO RGD:1350599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 12164770 KATNAL2 katanin catalytic subunit A1 like 2 gene DOID:10283 prostate cancer ISO RGD:1350599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12164770 KATNAL2 katanin catalytic subunit A1 like 2 gene DOID:1059 intellectual disability ISO RGD:1350599 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12164770 KATNAL2 katanin catalytic subunit A1 like 2 gene DOID:12849 autistic disorder ISO RGD:1350599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12164770 KATNAL2 katanin catalytic subunit A1 like 2 gene DOID:5419 schizophrenia ISO RGD:1350599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12164770 KATNAL2 katanin catalytic subunit A1 like 2 gene DOID:630 genetic disease ISO RGD:1350599 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25621899|PMID:26506440|PMID:28492532 12164770 KATNAL2 katanin catalytic subunit A1 like 2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1350599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 12164770 KATNAL2 katanin catalytic subunit A1 like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12164808 FBRS fibrosin gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1342852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12164808 FBRS fibrosin gene DOID:630 genetic disease ISO RGD:1342852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164808 FBRS fibrosin gene DOID:9007661 Dwarfism ISO RGD:1342852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12164829 TMEM59L transmembrane protein 59 like gene DOID:5119 ovarian cyst ISO RGD:1313653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12164829 TMEM59L transmembrane protein 59 like gene DOID:630 genetic disease ISO RGD:1313653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164829 TMEM59L transmembrane protein 59 like gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1313653 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12164842 TSPAN11 tetraspanin 11 gene DOID:630 genetic disease ISO RGD:1604416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164880 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:0050557 congenital muscular dystrophy ISO RGD:3160581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29260090|PMID:29382405 12164880 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:0050560 Walker-Warburg syndrome ISO RGD:3160581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22522420|PMID:22522421 12164880 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:0080000 muscular disease ISO RGD:3160581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22522421 12164880 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U ISO RGD:3160581 D RGD:7240710 20180808 OMIM 12164880 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U ISO RGD:3160581 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2U PMID:22522420|PMID:22522421|PMID:23217329|PMID:23288328|PMID:23390185|PMID:25326635|PMID:25741868|PMID:28492532|PMID:28973083|PMID:31909476 12164880 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency ISO RGD:3160581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency PMID:25741868 12164880 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 ISO RGD:3160581 D RGD:7240710 20180130 OMIM 12164880 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 ISO RGD:3160581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 PMID:10738921|PMID:16199547|PMID:17576681|PMID:18414213|PMID:22522420|PMID:22522421|PMID:23217329|PMID:2328832|PMID:23288328|PMID:23390185|PMID:24033266|PMID:24120487|PMID:2522420|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26404900|PMID:26467025|PMID:27234031|PMID:27363342|PMID:28492532|PMID:28688748|PMID:28973083|PMID:29260090|PMID:29382405|PMID:30564623|PMID:31127727|PMID:31395954|PMID:31909476|PMID:32502767|PMID:33199158|PMID:7604843|PMID:9492098|PMID:9536098 12164880 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:0112374 muscular dystrophy-dystroglycanopathy ISO RGD:3160581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy PMID:22522420|PMID:2522420|PMID:25741868|PMID:28492532 12164880 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:10908 hydrocephalus ISO RGD:3160581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22522421 12164880 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:3160581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12164880 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:9008296 Eye Abnormalities ISO RGD:3160581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22522421 12164905 RAB2A RAB2A, member RAS oncogene family gene DOID:0050834 CHARGE syndrome ISO RGD:68446 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:18413373|PMID:19772954|PMID:22258531|PMID:22902603|PMID:28492532 12164905 RAB2A RAB2A, member RAS oncogene family gene DOID:11612 polycystic ovary syndrome ISO RGD:68446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12164905 RAB2A RAB2A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:68446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164926 EBF2 EBF transcription factor 2 gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:1321920 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E PMID:19158810|PMID:20039262|PMID:28492532 12164926 EBF2 EBF transcription factor 2 gene DOID:630 genetic disease ISO RGD:1321920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164952 ARMC9 armadillo repeat containing 9 gene DOID:0050777 Joubert syndrome ISO RGD:1604597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532|PMID:28625504|PMID:31474318 12164952 ARMC9 armadillo repeat containing 9 gene DOID:0060476 Perlman syndrome ISO RGD:1604597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12164952 ARMC9 armadillo repeat containing 9 gene DOID:0080275 Joubert syndrome 30 ISO RGD:1604597 D RGD:7240710 20190315 OMIM 12164952 ARMC9 armadillo repeat containing 9 gene DOID:0080275 Joubert syndrome 30 ISO RGD:1604597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 30 PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:28625504|PMID:29159890|PMID:31474318|PMID:9536098 12164952 ARMC9 armadillo repeat containing 9 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1604597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12164952 ARMC9 armadillo repeat containing 9 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1604597 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:25741868|PMID:28492532|PMID:28625504|PMID:31474318 12164952 ARMC9 armadillo repeat containing 9 gene DOID:630 genetic disease ISO RGD:1604597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12164952 ARMC9 armadillo repeat containing 9 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1604597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868|PMID:28492532 12164984 SPP1 secreted phosphoprotein 1 gene DOID:0050851 glomerulosclerosis ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:12675855|REF_RGD_ID:6903837 12164984 SPP1 secreted phosphoprotein 1 gene DOID:0080685 aortic dissection ISO RGD:736066 D RGD:9068941 20220929 RGD protein:increased expression:aorta (human) PMID:28167124|PMID:30787994|REF_RGD_ID:155260287|REF_RGD_ID:155260309 12164984 SPP1 secreted phosphoprotein 1 gene DOID:0111535 progressive osseous heteroplasia ISO RGD:736066 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 12164984 SPP1 secreted phosphoprotein 1 gene DOID:10286 prostate carcinoma ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16331611|REF_RGD_ID:1581362 12164984 SPP1 secreted phosphoprotein 1 gene DOID:10320 asbestosis ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16221779|PMID:21514415 12164984 SPP1 secreted phosphoprotein 1 gene DOID:1074 kidney failure ISO RGD:736066 D RGD:9068941 20200609 RGD In type 2 diabetic patients PMID:21034455|REF_RGD_ID:6903271 12164984 SPP1 secreted phosphoprotein 1 gene DOID:11054 urinary bladder cancer ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:21483670|REF_RGD_ID:6903265 12164984 SPP1 secreted phosphoprotein 1 gene DOID:114 heart disease ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23558518 12164984 SPP1 secreted phosphoprotein 1 gene DOID:11832 visual epilepsy ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:12132583|REF_RGD_ID:1581327 12164984 SPP1 secreted phosphoprotein 1 gene DOID:1205 allergic disease ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12164984 SPP1 secreted phosphoprotein 1 gene DOID:12365 malaria ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:16552072|REF_RGD_ID:1581333 12164984 SPP1 secreted phosphoprotein 1 gene DOID:13001 carotid stenosis ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26564003 12164984 SPP1 secreted phosphoprotein 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9294829 12164984 SPP1 secreted phosphoprotein 1 gene DOID:13608 biliary atresia ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:15845635|REF_RGD_ID:1581370 12164984 SPP1 secreted phosphoprotein 1 gene DOID:14566 disease of cellular proliferation ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:15776015|REF_RGD_ID:1581381 12164984 SPP1 secreted phosphoprotein 1 gene DOID:1591 renovascular hypertension ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:12620700|REF_RGD_ID:1581326 12164984 SPP1 secreted phosphoprotein 1 gene DOID:1793 pancreatic cancer ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:15970685|REF_RGD_ID:1581363 12164984 SPP1 secreted phosphoprotein 1 gene DOID:182 calcinosis ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:18390899|REF_RGD_ID:6903869 12164984 SPP1 secreted phosphoprotein 1 gene DOID:182 calcinosis ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21193197|PMID:21335463 12164984 SPP1 secreted phosphoprotein 1 gene DOID:182 calcinosis ISO RGD:736066 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 12164984 SPP1 secreted phosphoprotein 1 gene DOID:1909 melanoma ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:15757900|REF_RGD_ID:1581337 12164984 SPP1 secreted phosphoprotein 1 gene DOID:2237 hepatitis ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:15712659|REF_RGD_ID:1581383 12164984 SPP1 secreted phosphoprotein 1 gene DOID:2377 multiple sclerosis ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:11721059|REF_RGD_ID:1581329 12164984 SPP1 secreted phosphoprotein 1 gene DOID:2377 multiple sclerosis ISO RGD:736066 D RGD:9068941 20200609 RGD DNA, protein:SNPs, haplotypes, increased expression:multiple, serum PMID:15885319|REF_RGD_ID:1581472 12164984 SPP1 secreted phosphoprotein 1 gene DOID:26 pancreas disease ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20495387 12164984 SPP1 secreted phosphoprotein 1 gene DOID:2921 glomerulonephritis disease_progression ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:20720406|REF_RGD_ID:6903272 12164984 SPP1 secreted phosphoprotein 1 gene DOID:299 adenocarcinoma ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20495387|PMID:21552421 12164984 SPP1 secreted phosphoprotein 1 gene DOID:3021 acute kidney failure ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:22863853|REF_RGD_ID:6903264 12164984 SPP1 secreted phosphoprotein 1 gene DOID:3021 acute kidney failure ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11274264|PMID:20623750 12164984 SPP1 secreted phosphoprotein 1 gene DOID:3042 allergic contact dermatitis ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14555839 12164984 SPP1 secreted phosphoprotein 1 gene DOID:3070 high grade glioma ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:16651633|REF_RGD_ID:1581321 12164984 SPP1 secreted phosphoprotein 1 gene DOID:3070 high grade glioma ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16651633 12164984 SPP1 secreted phosphoprotein 1 gene DOID:3393 coronary artery disease ISO RGD:736066 D RGD:9068941 20200609 RGD In type 2 diabetic patients PMID:21034455|REF_RGD_ID:6903271 12164984 SPP1 secreted phosphoprotein 1 gene DOID:3627 aortic aneurysm ISO RGD:736066 D RGD:9068941 20220929 RGD protein:increased expression:aorta (human) PMID:25465469|REF_RGD_ID:155260284 12164984 SPP1 secreted phosphoprotein 1 gene DOID:3770 pulmonary fibrosis ISO RGD:11340 D RGD:9068941 20200619 RGD associated with Middle East respiratory syndrome;mRNA:increased expression:lung: PMID:31838832|REF_RGD_ID:30309204 12164984 SPP1 secreted phosphoprotein 1 gene DOID:3770 pulmonary fibrosis ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25216247 12164984 SPP1 secreted phosphoprotein 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16533775|REF_RGD_ID:1581361 12164984 SPP1 secreted phosphoprotein 1 gene DOID:399 tuberculosis ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:15863395|REF_RGD_ID:1581371 12164984 SPP1 secreted phosphoprotein 1 gene DOID:4079 heart valve disease ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12164984 SPP1 secreted phosphoprotein 1 gene DOID:4247 coronary restenosis ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:12114325|REF_RGD_ID:1581358 12164984 SPP1 secreted phosphoprotein 1 gene DOID:4247 coronary restenosis ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16373617|REF_RGD_ID:1581366 12164984 SPP1 secreted phosphoprotein 1 gene DOID:4306 radiculopathy ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:14513263|REF_RGD_ID:1581324 12164984 SPP1 secreted phosphoprotein 1 gene DOID:4676 uremia ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 12164984 SPP1 secreted phosphoprotein 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:20504883|REF_RGD_ID:6903276 12164984 SPP1 secreted phosphoprotein 1 gene DOID:5082 liver cirrhosis ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16221502 12164984 SPP1 secreted phosphoprotein 1 gene DOID:5434 scrapie ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:16412998|REF_RGD_ID:1581331 12164984 SPP1 secreted phosphoprotein 1 gene DOID:552 pneumonia ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12164984 SPP1 secreted phosphoprotein 1 gene DOID:557 kidney disease ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27026710 12164984 SPP1 secreted phosphoprotein 1 gene DOID:576 proteinuria ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11972865 12164984 SPP1 secreted phosphoprotein 1 gene DOID:5844 myocardial infarction ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:14500723|REF_RGD_ID:1581325 12164984 SPP1 secreted phosphoprotein 1 gene DOID:5844 myocardial infarction ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:12939547|REF_RGD_ID:1581386 12164984 SPP1 secreted phosphoprotein 1 gene DOID:630 genetic disease ISO RGD:736066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12164984 SPP1 secreted phosphoprotein 1 gene DOID:640 encephalomyelitis ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:11721059|REF_RGD_ID:1581329 12164984 SPP1 secreted phosphoprotein 1 gene DOID:640 encephalomyelitis ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:11721059|REF_RGD_ID:1581329 12164984 SPP1 secreted phosphoprotein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16047475|REF_RGD_ID:1581375 12164984 SPP1 secreted phosphoprotein 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736066 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 12164984 SPP1 secreted phosphoprotein 1 gene DOID:7148 rheumatoid arthritis ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:15761492|REF_RGD_ID:1581382 12164984 SPP1 secreted phosphoprotein 1 gene DOID:820 myocarditis ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:16679731|REF_RGD_ID:1581118 12164984 SPP1 secreted phosphoprotein 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:17582161|PMID:22863349|PMID:25741868|PMID:28492532 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:15592854|REF_RGD_ID:6483848 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:15735673|REF_RGD_ID:1581341 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9000315 Pleural Neoplasms ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16221779 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9000352 Vascular System Injuries ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11868353 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9000483 Angina Pectoris ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16421174|REF_RGD_ID:1581390 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9000784 Fibrosis ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:15123578|REF_RGD_ID:1581343 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:16474180|REF_RGD_ID:1581330 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22407340 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18703563 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9001542 Albuminuria ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:18443355|REF_RGD_ID:6903862 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:16221502|REF_RGD_ID:1581332 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:16221502|REF_RGD_ID:1581332 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9001600 Wounds and Injuries ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9525990 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9001665 Aneurysm ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:11567232|REF_RGD_ID:1581391 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:12032186|REF_RGD_ID:1581328 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21852811 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:15867270|REF_RGD_ID:1581338 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9002315 Kidney Calculi ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:16105024|REF_RGD_ID:1581334 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9002315 Kidney Calculi ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:21378157|REF_RGD_ID:6903839 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9002315 Kidney Calculi ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10890885|PMID:8325891 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9002315 Kidney Calculi ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:15954903|REF_RGD_ID:1581372 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9002438 Foreign-Body Reaction ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:15949549|REF_RGD_ID:1581336 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20440599 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9002704 Leukoencephalopathies ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11868353 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16428483|REF_RGD_ID:1581364 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9003204 Neovascularization, Pathologic ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:11920639|REF_RGD_ID:1581359 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9003311 Urinary Calculi ISO RGD:736066 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R9402H (human) PMID:16145474|REF_RGD_ID:1581368 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9003311 Urinary Calculi no_association ISO RGD:736066 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.N9171S (human) PMID:16145474|REF_RGD_ID:1581368 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9003566 Mesothelioma ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16221779|PMID:18550471 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9003613 Laryngeal Neoplasms ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16299231|REF_RGD_ID:1581365 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9003936 Cardiomegaly ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:15534078|REF_RGD_ID:1581339 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9004009 Reperfusion Injury ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:20548025|REF_RGD_ID:6903275 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:736066 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-443C>T, -1748G>A (human) PMID:15868370|REF_RGD_ID:1581374 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16633066|REF_RGD_ID:1581360 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:15998773|REF_RGD_ID:1581369 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421|PMID:22481206 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15318939 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9005372 Inflammation ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:16105024|REF_RGD_ID:1581334 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:16528250|REF_RGD_ID:1581322 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9006062 Nervous System Trauma ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:15625076|REF_RGD_ID:1581125 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9006081 Osteolysis ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22407340 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:15531104|REF_RGD_ID:1581323 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15805072 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16980342 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9007502 Brain Neoplasms ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16651633 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:15165989|REF_RGD_ID:1581342 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9008105 Cystic, Mucinous, and Serous Neoplasms ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16633066|REF_RGD_ID:1581360 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18949741|PMID:22531848 12164984 SPP1 secreted phosphoprotein 1 gene DOID:9538 multiple myeloma ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16208410|REF_RGD_ID:1581367 12164998 ATPSCKMT ATP synthase c subunit lysine N-methyltransferase gene DOID:630 genetic disease ISO RGD:1603183 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165016 RPS23 ribosomal protein S23 gene DOID:9003486 Brachycephaly, Trichomegaly, and Developmental Delay ISO RGD:1343302 D RGD:7240710 20190315 OMIM 12165016 RPS23 ribosomal protein S23 gene DOID:9003486 Brachycephaly, Trichomegaly, and Developmental Delay ISO RGD:1343302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay PMID:25741868|PMID:28257692 12165016 RPS23 ribosomal protein S23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12165024 SERINC5 serine incorporator 5 gene DOID:630 genetic disease ISO RGD:1604715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165024 SERINC5 serine incorporator 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12165043 BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:0060041 autism spectrum disorder ISO RGD:1344086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12165043 BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:10923 sickle cell anemia ISO RGD:1344086 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12165043 BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:12849 autistic disorder ISO RGD:1344086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12165043 BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:1928 Williams-Beuren syndrome ISO RGD:1344086 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 12165043 BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12165043 BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:5419 schizophrenia ISO RGD:1344086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12165043 BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1344086 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165043 BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:8445 intestinal volvulus ISO RGD:1344086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12165043 BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12165043 BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:9008419 Volvulus Of Midgut ISO RGD:1344086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12165059 PSMG2 proteasome assembly chaperone 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1312554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12165059 PSMG2 proteasome assembly chaperone 2 gene DOID:1059 intellectual disability ISO RGD:1312554 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12165059 PSMG2 proteasome assembly chaperone 2 gene DOID:543 dystonia ISO RGD:1312554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 12165059 PSMG2 proteasome assembly chaperone 2 gene DOID:630 genetic disease ISO RGD:1312554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12165059 PSMG2 proteasome assembly chaperone 2 gene DOID:9003015 Proteasome-Associated Autoinflammatory Syndrome 4 ISO RGD:1312554 D RGD:7240710 20210303 OMIM 12165059 PSMG2 proteasome assembly chaperone 2 gene DOID:9003015 Proteasome-Associated Autoinflammatory Syndrome 4 ISO RGD:1312554 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 4 PMID:16199547|PMID:25741868|PMID:28492532|PMID:30664889 12165059 PSMG2 proteasome assembly chaperone 2 gene DOID:9007661 Dwarfism ISO RGD:1312554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12165073 ZNF608 zinc finger protein 608 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1315658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12165073 ZNF608 zinc finger protein 608 gene DOID:630 genetic disease ISO RGD:1315658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165073 ZNF608 zinc finger protein 608 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12165073 ZNF608 zinc finger protein 608 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12165107 PNPLA1 patatin like phospholipase domain containing 1 gene DOID:0050553 JMP syndrome ISO RGD:1315443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12165107 PNPLA1 patatin like phospholipase domain containing 1 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1315443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:22246504|PMID:24344921|PMID:26691440|PMID:26778108|PMID:28093717|PMID:28369476|PMID:28403545|PMID:28492532|PMID:3757302 12165107 PNPLA1 patatin like phospholipase domain containing 1 gene DOID:0060719 autosomal recessive congenital ichthyosis 10 IAGP D RGD:12801476 20230510 OMIA Ichthyosis, PNPLA1-related PMID:19413748|PMID:22246504|PMID:18424829|PMID:18477327|PMID:21866517|PMID:26178606|PMID:26662214|PMID:15532893|PMID:27237723|PMID:34544496|PMID:34796560|PMID:35324825 12165107 PNPLA1 patatin like phospholipase domain containing 1 gene DOID:0060719 autosomal recessive congenital ichthyosis 10 ISO RGD:1315443 D RGD:7240710 20180130 OMIM 12165107 PNPLA1 patatin like phospholipase domain containing 1 gene DOID:0060719 autosomal recessive congenital ichthyosis 10 ISO RGD:1315443 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10 PMID:22246504|PMID:23352160|PMID:24033266|PMID:24344921|PMID:25741868|PMID:26424960|PMID:26691440|PMID:26778108|PMID:27884173|PMID:27884779|PMID:28369476|PMID:28403545|PMID:28492532|PMID:30409984|PMID:33727708|PMID:3757302 12165107 PNPLA1 patatin like phospholipase domain containing 1 gene DOID:1697 ichthyosis ISO RGD:1315443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ichthyosis PMID:26691440|PMID:26778108 12165107 PNPLA1 patatin like phospholipase domain containing 1 gene DOID:630 genetic disease ISO RGD:1315443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12165133 BEND4 BEN domain containing 4 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605502 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:28722770 12165133 BEND4 BEN domain containing 4 gene DOID:630 genetic disease ISO RGD:1605502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165133 BEND4 BEN domain containing 4 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1605502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:35221871 12165143 ELK3 ETS transcription factor ELK3 gene DOID:0060646 congenital chylothorax ISO RGD:1317144 D RGD:9068941 20220825 MouseDO OMIM:603523 12165143 ELK3 ETS transcription factor ELK3 gene DOID:630 genetic disease ISO RGD:1317143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165143 ELK3 ETS transcription factor ELK3 gene DOID:9008939 Breast Neoplasms ISO RGD:1317143 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16583263 12165143 ELK3 ETS transcription factor ELK3 gene DOID:9775 diastolic heart failure ISO RGD:1317143 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12165152 UBN2 ubinuclein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:2302451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28263302 12165152 UBN2 ubinuclein 2 gene DOID:0080690 RASopathy ISO RGD:2302451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12165152 UBN2 ubinuclein 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2302451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12165152 UBN2 ubinuclein 2 gene DOID:630 genetic disease ISO RGD:2302451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165173 NOTUM notum, palmitoleoyl-protein carboxylesterase gene DOID:0060041 autism spectrum disorder ISO RGD:1606450 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12165173 NOTUM notum, palmitoleoyl-protein carboxylesterase gene DOID:630 genetic disease ISO RGD:1606450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165190 IRAK2 interleukin 1 receptor associated kinase 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1319999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 12165190 IRAK2 interleukin 1 receptor associated kinase 2 gene DOID:14175 von Hippel-Lindau disease ISO RGD:1319999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Von Hippel-Lindau syndrome PMID:25741868 12165190 IRAK2 interleukin 1 receptor associated kinase 2 gene DOID:630 genetic disease ISO RGD:1319999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165190 IRAK2 interleukin 1 receptor associated kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12165190 IRAK2 interleukin 1 receptor associated kinase 2 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1319999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12165212 IFRD2 interferon related developmental regulator 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12165212 IFRD2 interferon related developmental regulator 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12165212 IFRD2 interferon related developmental regulator 2 gene DOID:630 genetic disease ISO RGD:1320999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12165212 IFRD2 interferon related developmental regulator 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1320999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12165212 IFRD2 interferon related developmental regulator 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12165233 PANK1 pantothenate kinase 1 gene DOID:630 genetic disease ISO RGD:1312259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165250 SH3BP2 SH3 domain binding protein 2 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1321583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12165250 SH3BP2 SH3 domain binding protein 2 gene DOID:1856 cherubism ISO RGD:1321583 D RGD:7240710 20180130 OMIM 12165250 SH3BP2 SH3 domain binding protein 2 gene DOID:1856 cherubism ISO RGD:1321583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:11381256|PMID:12900899|PMID:14577811|PMID:15507112|PMID:16199547|PMID:16786512|PMID:17321449|PMID:17576681|PMID:18596838|PMID:19017279|PMID:19576004|PMID:20002873|PMID:21045962|PMID:21794028|PMID:22153076|PMID:22153077|PMID:22795151|PMID:23298620|PMID:24033266|PMID:24382142|PMID:24608212|PMID:24916406|PMID:25144740|PMID:25741868|PMID:26064398|PMID:27272835|PMID:28492532|PMID:28644570|PMID:30236129|PMID:34573280|PMID:9536098 12165250 SH3BP2 SH3 domain binding protein 2 gene DOID:630 genetic disease ISO RGD:1321583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12165281 DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:0060891 Parkinson's disease 19A ISO RGD:1320495 D RGD:7240710 20180130 OMIM 12165281 DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:0060891 Parkinson's disease 19A ISO RGD:1320495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Juvenile onset Parkinson disease 19A | ClinVar Annotator: match by term: PARK19 | ClinVar Annotator: match by term: Parkinson disease 19B, early-onset PMID:16199547|PMID:17576681|PMID:2256350|PMID:22563501|PMID:23211418|PMID:24220513|PMID:25640679|PMID:25741868|PMID:26528954|PMID:26703368|PMID:28191889|PMID:28492532|PMID:31737044|PMID:32214227|PMID:32472658|PMID:32662538|PMID:33983693|PMID:9536098 12165281 DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:10283 prostate cancer ISO RGD:1320495 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:22563501|PMID:23211418|PMID:26528954|PMID:28492532 12165281 DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:1059 intellectual disability ISO RGD:1320495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12165281 DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:14330 Parkinson's disease ISO RGD:1320495 D RGD:9068941 20200609 RGD PMID:25639775|REF_RGD_ID:10450521 12165281 DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:630 genetic disease ISO RGD:1320495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26528954|PMID:28191889|PMID:28492532|PMID:31737044 12165281 DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:684 hepatocellular carcinoma ISO RGD:1320495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12165281 DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:9000609 Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus ISO RGD:1320495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus PMID:2256350|PMID:22563501|PMID:24220513|PMID:32214227|PMID:33983693 12165316 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:0040083 Chlamydia pneumonia severity ISO RGD:1322206 D RGD:9068941 20201211 RGD PMID:29893841|REF_RGD_ID:40890270 12165316 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:0040084 Streptococcus pneumonia treatment ISO RGD:1322206 D RGD:9068941 20201211 RGD associated with immunodeficiency 14 PMID:30093657|REF_RGD_ID:40890269 12165316 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1322205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12165316 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1322205 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21173233 12165316 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:0050746 mantle cell lymphoma ISO RGD:1322205 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23676220 12165316 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1322205 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12165316 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:0111936 immunodeficiency 14 ISO RGD:1322205 D RGD:7240710 20180130 OMIM 12165316 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:0111936 immunodeficiency 14 ISO RGD:1322205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Activated PI3K-delta syndrome | ClinVar Annotator: match by term: Immunodeficiency 14 | ClinVar Annotator: match by term: Immunodeficiency 14b, autosomal recessive PMID:16984281|PMID:17576681|PMID:24136356|PMID:24165795|PMID:24610295|PMID:25352054|PMID:25741868|PMID:26437962|PMID:26732860|PMID:27426521|PMID:27555459|PMID:27577878|PMID:27697496|PMID:28104464|PMID:28167755|PMID:28190860|PMID:28492532|PMID:29330011|PMID:29921932|PMID:30138677|PMID:30499059|PMID:30639166|PMID:31031754|PMID:31537641|PMID:32084423|PMID:32581362|PMID:32681977|PMID:34115277|PMID:9536098 12165316 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:11573 listeriosis ISO RGD:1322206 D RGD:9068941 20201211 RGD PMID:26311905|REF_RGD_ID:40890274 12165316 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:1380 endometrial cancer ISO RGD:1352691 D RGD:9068941 20200609 RGD PMID:21478295|REF_RGD_ID:13441595 12165316 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:14115 toxic shock syndrome severity ISO RGD:1322206 D RGD:9068941 20201211 RGD PMID:28659355|REF_RGD_ID:40890272 12165316 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:3068 glioblastoma disease_progression ISO RGD:1322205 D RGD:9068941 20200609 RGD PMID:24523440|REF_RGD_ID:13782051 12165316 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:612 primary immunodeficiency disease ISO RGD:1322205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:16984281|PMID:24136356|PMID:24165795|PMID:24610295|PMID:25352054|PMID:25741868|PMID:26437962|PMID:26732860|PMID:28492532|PMID:32581362 12165316 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:630 genetic disease ISO RGD:1322205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12165316 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:9000886 Roifman-Chitayat Syndrome ISO RGD:1322205 D RGD:7240710 20210505 OMIM 12165316 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:9000886 Roifman-Chitayat Syndrome ISO RGD:1322205 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Roifman-Chitayat syndrome | ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic PMID:16984281|PMID:17576681|PMID:19863561|PMID:24136356|PMID:24165795|PMID:24610295|PMID:25352054|PMID:25741868|PMID:26437962|PMID:26732860|PMID:28492532|PMID:29180244|PMID:29921932|PMID:32581362|PMID:9536098 12165316 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322205 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12165316 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:9002457 Experimental Arthritis ISO RGD:1322206 D RGD:9068941 20200609 RGD PMID:18412166|REF_RGD_ID:6482696 12165316 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12165316 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:9111 cutaneous leishmaniasis treatment ISO RGD:1322206 D RGD:9068941 20201211 RGD PMID:27999013|REF_RGD_ID:40890273 12165316 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:9146 visceral leishmaniasis treatment ISO RGD:1322206 D RGD:9068941 20201211 RGD PMID:27999013|REF_RGD_ID:40890273 12165316 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:9256 colorectal cancer ISO RGD:1322205 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:25366420|REF_RGD_ID:13432038 12165356 METTL4 methyltransferase 4, N6-adenosine gene DOID:1059 intellectual disability ISO RGD:1346719 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12165356 METTL4 methyltransferase 4, N6-adenosine gene DOID:630 genetic disease ISO RGD:1346719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165379 IKZF3 IKAROS family zinc finger 3 gene DOID:0050685 small cell carcinoma ISO RGD:1315971 D RGD:9068941 20220204 RGD protein:increased expression:lung (human) PMID:24823637|REF_RGD_ID:151347636 12165379 IKZF3 IKAROS family zinc finger 3 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1315971 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 12165379 IKZF3 IKAROS family zinc finger 3 gene DOID:2841 asthma ISO RGD:1315971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25256354 12165379 IKZF3 IKAROS family zinc finger 3 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1315971 D RGD:9068941 20220204 RGD protein:increased expression:lung (human) PMID:24823637|REF_RGD_ID:151347636 12165379 IKZF3 IKAROS family zinc finger 3 gene DOID:630 genetic disease ISO RGD:1315971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165379 IKZF3 IKAROS family zinc finger 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1315971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 12165379 IKZF3 IKAROS family zinc finger 3 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1315971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 12165379 IKZF3 IKAROS family zinc finger 3 gene DOID:9006187 Immunodeficiency 84 ISO RGD:1315971 D RGD:7240710 20210804 OMIM 12165379 IKZF3 IKAROS family zinc finger 3 gene DOID:9006187 Immunodeficiency 84 ISO RGD:1315971 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 84 PMID:25741868|PMID:34155405 12165379 IKZF3 IKAROS family zinc finger 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:1315972 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12165379 IKZF3 IKAROS family zinc finger 3 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1315971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334668 12165396 MGAT1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:0080600 COVID-19 ISO RGD:1349279 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12165396 MGAT1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:1349279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165413 ABCA13 ATP binding cassette subfamily A member 13 gene DOID:3717 gastric adenocarcinoma susceptibility ISO RGD:1352197 D RGD:9068941 20220609 RGD DNA:amplification:cds: (human) PMID:27366209|REF_RGD_ID:152995256 12165413 ABCA13 ATP binding cassette subfamily A member 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12165413 ABCA13 ATP binding cassette subfamily A member 13 gene DOID:5419 schizophrenia ISO RGD:1352197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:25741868 12165413 ABCA13 ATP binding cassette subfamily A member 13 gene DOID:630 genetic disease ISO RGD:1352197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165413 ABCA13 ATP binding cassette subfamily A member 13 gene DOID:9000081 Lymphatic Metastasis susceptibility ISO RGD:1352197 D RGD:9068941 20220609 RGD DNA:amplification:cds: (human, male) PMID:27366209|REF_RGD_ID:152995256 12165413 ABCA13 ATP binding cassette subfamily A member 13 gene DOID:9000918 Disease Progression ISO RGD:1352197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12165413 ABCA13 ATP binding cassette subfamily A member 13 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12165471 ZBTB22 zinc finger and BTB domain containing 22 gene DOID:0050553 JMP syndrome ISO RGD:1352119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12165471 ZBTB22 zinc finger and BTB domain containing 22 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1352119 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 12165471 ZBTB22 zinc finger and BTB domain containing 22 gene DOID:630 genetic disease ISO RGD:1352119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:0040085 bacterial sepsis ameliorates ISO RGD:1309467 D RGD:9068941 20210611 RGD associated with bacterial pneumonia PMID:16960786|REF_RGD_ID:127229902 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:0040085 bacterial sepsis exacerbates ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:17230441|REF_RGD_ID:126928125 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:0040085 bacterial sepsis treatment ISO RGD:1319823 D RGD:9068941 20210528 RGD PMID:21507332|REF_RGD_ID:126925982 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:0050211 swine influenza severity ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:24453980|REF_RGD_ID:126925972 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1319823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:0050697 chorioamnionitis ISO RGD:1319823 D RGD:9068941 20210604 RGD associated with Premature Obstetric Labor;protein:increased expression:amniotic fluid: PMID:19591072|REF_RGD_ID:127229904 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:0060180 colitis severity ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:24453980|REF_RGD_ID:126925972 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:1002 endometritis ameliorates ISO RGD:1319824 D RGD:9068941 20210611 RGD PMID:31365951|REF_RGD_ID:126928127 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:12365 malaria severity ISO RGD:1319823 D RGD:9068941 20210507 RGD DNA:SNP: :rs2234237A>T (human) PMID:27671831|REF_RGD_ID:126848795 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:13252 mesenteric vascular occlusion ameliorates ISO RGD:1309467 D RGD:9068941 20210611 RGD PMID:18091551|REF_RGD_ID:127284848 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:13272 Klebsiella pneumonia disease_progression ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:24396044|REF_RGD_ID:126925976 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:14115 toxic shock syndrome ISO RGD:1319823 D RGD:9068941 20210507 RGD mRNA:decreased expression:polymorphonuclear leukocyte PMID:24465168|REF_RGD_ID:126848796 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:1596 depressive disorder treatment ISO RGD:1309467 D RGD:9068941 20210611 RGD PMID:32009956|REF_RGD_ID:127284856 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:1883 hepatitis C ISO RGD:1319823 D RGD:9068941 20210528 RGD protein:increased expression:plasma PMID:27328755|REF_RGD_ID:126925974 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:1884 viral hepatitis disease_progression ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:27328755|REF_RGD_ID:126925974 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:2043 hepatitis B ISO RGD:1319823 D RGD:9068941 20210528 RGD protein:increased expression:plasma PMID:27328755|REF_RGD_ID:126925974 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:2913 acute pancreatitis ameliorates ISO RGD:1309467 D RGD:9068941 20210611 RGD PMID:19787284|REF_RGD_ID:127284839 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:2913 acute pancreatitis severity ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:26250893|REF_RGD_ID:11522077 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:2957 pulmonary tuberculosis disease_progression ISO RGD:1319823 D RGD:9068941 20210528 RGD PMID:29844416|REF_RGD_ID:126925977 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:1309467 D RGD:9068941 20210611 RGD PMID:32736673|REF_RGD_ID:127284860 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:3798 pleural empyema treatment ISO RGD:1309467 D RGD:9068941 20210611 RGD PMID:20819512|REF_RGD_ID:127284851 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:4033 bacterial gastritis ISO RGD:1319823 D RGD:9068941 20210528 RGD mRNA,protein:increased expression:gastric epithelium PMID:18321350|REF_RGD_ID:126928123 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:409 liver disease ISO RGD:1319823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12651611 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:5052 melioidosis ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:18008257|REF_RGD_ID:126928120 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:5052 melioidosis severity ISO RGD:1319823 D RGD:9068941 20210528 RGD PMID:18008257|REF_RGD_ID:126928120 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:5052 melioidosis treatment ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:18008257|REF_RGD_ID:126928120 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1319823 D RGD:9068941 20210528 RGD mRNA,protein:increased expression:peripheral blood mononuclear cell, macrophage, plasma PMID:31260499|REF_RGD_ID:126925971 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:5844 myocardial infarction ameliorates ISO RGD:1309467 D RGD:9068941 20210611 RGD PMID:25840803|REF_RGD_ID:127284842 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:5844 myocardial infarction ameliorates ISO RGD:1319824 D RGD:9068941 20210611 RGD PMID:25840803|REF_RGD_ID:127284842 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:5844 myocardial infarction disease_progression ISO RGD:1319823 D RGD:9068941 20210611 RGD PMID:25840803|REF_RGD_ID:127284842 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:6000 congestive heart failure treatment ISO RGD:1309467 D RGD:9068941 20210604 RGD PMID:33495812|REF_RGD_ID:127229929 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:630 genetic disease ISO RGD:1319823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:7148 rheumatoid arthritis treatment ISO RGD:1309467 D RGD:9068941 20210604 RGD PMID:27049384|REF_RGD_ID:127229930 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:824 periodontitis ISO RGD:1309467 D RGD:9068941 20210611 RGD mRNA,protein:increased expression:periodontium PMID:29972971|REF_RGD_ID:127284858 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:874 bacterial pneumonia ameliorates ISO RGD:1309467 D RGD:9068941 20210611 RGD PMID:16960786|REF_RGD_ID:127229902 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:874 bacterial pneumonia severity ISO RGD:1319823 D RGD:9068941 20210528 RGD PMID:22996209|PMID:24465168|REF_RGD_ID:126848796|REF_RGD_ID:126925987 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9000438 Subarachnoid Hemorrhage severity ISO RGD:1319823 D RGD:9068941 20210611 RGD PMID:33727099|REF_RGD_ID:127284864 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:1309467 D RGD:9068941 20210611 RGD PMID:30910643|REF_RGD_ID:127284863 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9001708 Hemorrhagic Shock ameliorates ISO RGD:1309467 D RGD:9068941 20210611 RGD PMID:19333144|REF_RGD_ID:127284838 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:24752755|REF_RGD_ID:126928121 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9002106 Pneumococcal Pneumonia ameliorates ISO RGD:1319824 D RGD:9068941 20210604 RGD PMID:19596984|REF_RGD_ID:127229903 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1319823 D RGD:9068941 20210604 RGD protein:increased expression:kidney interstitium PMID:30478987|REF_RGD_ID:127229931 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:1309467 D RGD:9068941 20210611 RGD PMID:29331667|PMID:30478987|REF_RGD_ID:127229931|REF_RGD_ID:127284861 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9002224 Rotator Cuff Injuries ISO RGD:1309467 D RGD:9068941 20210611 RGD protein:increased expression:tendon: PMID:29891998|REF_RGD_ID:127284862 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9002668 Liver Abscess severity ISO RGD:1319824 D RGD:9068941 20210528 RGD associated with Klebsiella pneumonia PMID:24396044|REF_RGD_ID:126925976 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9002869 Schistosomiasis Mansoni ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:21332515|REF_RGD_ID:126925988 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9004055 Fungal Keratitis ISO RGD:1319823 D RGD:9068941 20210528 RGD mRNA:increased expression:cornea PMID:26963514|REF_RGD_ID:11526921 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9004055 Fungal Keratitis ISO RGD:1319824 D RGD:9068941 20210528 RGD mRNA:increased expression:cornea PMID:26963514|REF_RGD_ID:11526921 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9004055 Fungal Keratitis treatment ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:26963514|REF_RGD_ID:11526921 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9004484 Sepsis ISO RGD:1319823 D RGD:9068941 20210528 RGD mRNA:decreased expression:polymorph nuclear cell: PMID:22996209|REF_RGD_ID:126925987 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:1319823 D RGD:9068941 20210528 RGD PMID:22809118|REF_RGD_ID:126925981 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9004484 Sepsis treatment ISO RGD:1309467 D RGD:9068941 20210611 RGD PMID:22147417|REF_RGD_ID:127284847 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9004610 Acute Lung Injury ameliorates ISO RGD:1309467 D RGD:9068941 20210611 RGD PMID:26832696|REF_RGD_ID:127284840 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9004610 Acute Lung Injury exacerbates ISO RGD:1309467 D RGD:9068941 20210611 RGD PMID:26832696|REF_RGD_ID:127284840 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9005930 Endotoxemia ISO RGD:1319823 D RGD:9068941 20210528 RGD PMID:15585833|REF_RGD_ID:126928122 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9005930 Endotoxemia treatment ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:21507332|REF_RGD_ID:126925982 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:1309467 D RGD:9068941 20210611 RGD mRNA:increased expression:sciatic nerve,peripheral blood mononuclar cell PMID:28260057|REF_RGD_ID:127284841 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9006647 Experimental Autoimmune Neuritis ameliorates ISO RGD:1309467 D RGD:9068941 20210611 RGD PMID:28260057|REF_RGD_ID:127284841 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9007755 Intestinal Reperfusion Injury ameliorates ISO RGD:1309467 D RGD:9068941 20210611 RGD associated with mesenteric vascular occlusion; PMID:18091551|REF_RGD_ID:127284848 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9008067 Toxemia ameliorates ISO RGD:1319824 D RGD:9068941 20210611 RGD PMID:17230441|REF_RGD_ID:126928125 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:905 Zellweger syndrome ISO RGD:1319823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9065 leishmaniasis severity ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:24453980|REF_RGD_ID:126925972 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9120 amyloidosis ISO RGD:1319823 D RGD:9068941 20210604 RGD associated with familial Mediterranean fever;protein:increased expression:serum: PMID:31474164|REF_RGD_ID:127229901 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9415 allergic asthma ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:21592044|REF_RGD_ID:126928124 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9415 allergic asthma exacerbates ISO RGD:1319824 D RGD:9068941 20210528 RGD PMID:21592044|REF_RGD_ID:126928124 12165478 TREM1 triggering receptor expressed on myeloid cells 1 gene DOID:9470 bacterial meningitis disease_progression ISO RGD:1319823 D RGD:9068941 20210528 RGD PMID:16786330|REF_RGD_ID:126928126 12165489 NINJ1 ninjurin 1 gene DOID:0080600 COVID-19 ISO RGD:737046 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12165489 NINJ1 ninjurin 1 gene DOID:3042 allergic contact dermatitis ISO RGD:737046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 12165489 NINJ1 ninjurin 1 gene DOID:630 genetic disease ISO RGD:737046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165508 CAMTA1 calmodulin binding transcription activator 1 gene DOID:0050998 nonprogressive cerebellar ataxia with mental retardation ISO RGD:1318785 D RGD:7240710 20180130 OMIM 12165508 CAMTA1 calmodulin binding transcription activator 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1318785 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12165508 CAMTA1 calmodulin binding transcription activator 1 gene DOID:0060811 syndromic X-linked intellectual disability Turner type ISO RGD:1318785 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type PMID:25741868 12165508 CAMTA1 calmodulin binding transcription activator 1 gene DOID:1059 intellectual disability ISO RGD:1318785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 12165508 CAMTA1 calmodulin binding transcription activator 1 gene DOID:1826 epilepsy ISO RGD:1318785 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12165508 CAMTA1 calmodulin binding transcription activator 1 gene DOID:630 genetic disease ISO RGD:1318785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12165508 CAMTA1 calmodulin binding transcription activator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12165508 CAMTA1 calmodulin binding transcription activator 1 gene DOID:9008582 Developmental Disease ISO RGD:1318785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12165561 LOC100685893 keratin-associated protein 17-1 gene DOID:630 genetic disease ISO RGD:1343387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165566 TNP1 transition protein 1 gene DOID:630 genetic disease ISO RGD:733923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165566 TNP1 transition protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12165573 CHCT1 CHD1 helical C-terminal domain containing 1 gene DOID:0050777 Joubert syndrome ISO RGD:1603589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12165573 CHCT1 CHD1 helical C-terminal domain containing 1 gene DOID:11372 megacolon ISO RGD:1603589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12165583 METTL23 methyltransferase like 23 gene DOID:0081208 autosomal recessive intellectual developmental disorder 44 ISO RGD:2298732 D RGD:7240710 20180130 OMIM 12165583 METTL23 methyltransferase like 23 gene DOID:0081208 autosomal recessive intellectual developmental disorder 44 ISO RGD:2298732 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 44 PMID:24501276|PMID:24626631|PMID:25741868|PMID:28492532|PMID:32067349|PMID:32439618|PMID:32860008 12165583 METTL23 methyltransferase like 23 gene DOID:1059 intellectual disability ISO RGD:2298732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24626631 12165583 METTL23 methyltransferase like 23 gene DOID:1686 glaucoma ISO RGD:1314817 D RGD:9068941 20221215 MouseDO 12165583 METTL23 methyltransferase like 23 gene DOID:630 genetic disease ISO RGD:2298732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24501276|PMID:24626631|PMID:25741868|PMID:28492532|PMID:32860008 12165604 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1322215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12165604 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1322215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868|PMID:26316326|PMID:28492532 12165604 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0050795 cone dystrophy ISO RGD:1322215 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:29184169 12165604 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1322215 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12165604 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0081292 traumatic brain injury ISO RGD:1322215 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27822499 12165604 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0110005 Leber congenital amaurosis 9 ISO RGD:1322215 D RGD:7240710 20180130 OMIM 12165604 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0110005 Leber congenital amaurosis 9 ISO RGD:1322215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amaurosis congenita of Leber, type 9 | ClinVar Annotator: match by term: Leber congenital amaurosis 9 PMID:12734549|PMID:16199547|PMID:17576681|PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24791140|PMID:24830548|PMID:24940029|PMID:25412400|PMID:25741868|PMID:26018082|PMID:26047050|PMID:26103963|PMID:26316326|PMID:26464178|PMID:27032803|PMID:27422788|PMID:28041643|PMID:28369829|PMID:28453600|PMID:28492532|PMID:29074561|PMID:29178642|PMID:29184169|PMID:30004997|PMID:31054281|PMID:31877759|PMID:32037395|PMID:32150116|PMID:32165824|PMID:32533184|PMID:32581362|PMID:32865313|PMID:3691693|PMID:9536098 12165604 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0111936 immunodeficiency 14 ISO RGD:1322215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 12165604 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis ISO RGD:1322215 D RGD:7240710 20210414 OMIM 12165604 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis ISO RGD:1322215 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SHILCA SYNDROME PMID:22842227|PMID:22842230|PMID:22842231|PMID:25741868|PMID:26018082|PMID:28492532|PMID:32533184 12165604 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:11446 sciatic neuropathy ISO RGD:1310996 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion: PMID:16914673|REF_RGD_ID:13781948 12165604 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1322215 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28041643|PMID:28492532|PMID:29184169|PMID:30004997|PMID:32150116|PMID:32533184|PMID:32581362 12165604 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:4448 macular degeneration ISO RGD:1322215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842229 12165604 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:5723 optic atrophy ISO RGD:1322215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842229 12165604 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:630 genetic disease ISO RGD:1322215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12165604 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:8466 retinal degeneration ISO RGD:1322215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842230 12165604 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:8466 retinal degeneration ISO RGD:1623222 D RGD:9068941 20220825 MouseDO 12165604 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:8501 fundus dystrophy ISO RGD:1322215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:26316326|PMID:27032803|PMID:28041643|PMID:28492532|PMID:29184169|PMID:30004997|PMID:32150116|PMID:32533184|PMID:32581362|PMID:32865313 12165604 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1322215 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27822499 12165604 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:9002498 Wallerian Degeneration ISO RGD:1322215 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27822499 12165604 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:9004910 Hereditary Macular Coloboma ISO RGD:1322215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842230 12165604 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1322215 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28041643|PMID:28492532|PMID:29184169|PMID:30004997|PMID:32150116|PMID:32533184|PMID:32581362 12165693 DNAAF11 dynein axonemal assembly factor 11 gene DOID:0050144 Kartagener syndrome ISO RGD:1351490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:23122589|PMID:23891469|PMID:24307375|PMID:26139845|PMID:28492532 12165693 DNAAF11 dynein axonemal assembly factor 11 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1351490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28492532 12165693 DNAAF11 dynein axonemal assembly factor 11 gene DOID:0050545 visceral heterotaxy ISO RGD:1351490 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Situs ambiguus PMID:20301301|PMID:23122589|PMID:23527195|PMID:23891469|PMID:25741868|PMID:28492532 12165693 DNAAF11 dynein axonemal assembly factor 11 gene DOID:0110608 primary ciliary dyskinesia 19 ISO RGD:1351490 D RGD:7240710 20180130 OMIM 12165693 DNAAF11 dynein axonemal assembly factor 11 gene DOID:0110608 primary ciliary dyskinesia 19 ISO RGD:1351490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 19 PMID:16199547|PMID:17576681|PMID:20301301|PMID:23122589|PMID:23527195|PMID:23891469|PMID:24033266|PMID:24307375|PMID:25741868|PMID:26139845|PMID:27637300|PMID:28492532|PMID:30300419|PMID:31650533|PMID:9536098 12165693 DNAAF11 dynein axonemal assembly factor 11 gene DOID:14264 benign neonatal seizures ISO RGD:1351490 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 12165693 DNAAF11 dynein axonemal assembly factor 11 gene DOID:2377 multiple sclerosis ISO RGD:1351490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to PMID:25741868|PMID:28492532 12165693 DNAAF11 dynein axonemal assembly factor 11 gene DOID:5223 infertility ISO RGD:1351490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infertility PMID:28492532|PMID:30300419 12165693 DNAAF11 dynein axonemal assembly factor 11 gene DOID:630 genetic disease ISO RGD:1351490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23122589|PMID:23891469|PMID:24307375|PMID:26139845|PMID:28492532 12165693 DNAAF11 dynein axonemal assembly factor 11 gene DOID:758 situs inversus ISO RGD:1351490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:20301301|PMID:23122589|PMID:23527195|PMID:23891469|PMID:25741868|PMID:28492532 12165693 DNAAF11 dynein axonemal assembly factor 11 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:20301301|PMID:23122589|PMID:23527195|PMID:23891469|PMID:24033266|PMID:24307375|PMID:25741868|PMID:26139845|PMID:27637300|PMID:28492532 12165713 SPAM1 sperm adhesion molecule 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12165713 SPAM1 sperm adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:1347791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165727 SUPT5H SPT5 homolog, DSIF elongation factor subunit gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1346289 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12165727 SUPT5H SPT5 homolog, DSIF elongation factor subunit gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1346289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12165727 SUPT5H SPT5 homolog, DSIF elongation factor subunit gene DOID:1342 congenital hypoplastic anemia ISO RGD:1346289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12165727 SUPT5H SPT5 homolog, DSIF elongation factor subunit gene DOID:2340 craniosynostosis ISO RGD:1346289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12165727 SUPT5H SPT5 homolog, DSIF elongation factor subunit gene DOID:630 genetic disease ISO RGD:1346289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165727 SUPT5H SPT5 homolog, DSIF elongation factor subunit gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1346289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12165727 SUPT5H SPT5 homolog, DSIF elongation factor subunit gene DOID:9269 maple syrup urine disease ISO RGD:1346289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12165727 SUPT5H SPT5 homolog, DSIF elongation factor subunit gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346289 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12165764 PCTP phosphatidylcholine transfer protein gene DOID:630 genetic disease ISO RGD:1353620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165774 ENPP5 ectonucleotide pyrophosphatase/phosphodiesterase family member 5 gene DOID:0080600 COVID-19 ISO RGD:1349666 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12165774 ENPP5 ectonucleotide pyrophosphatase/phosphodiesterase family member 5 gene DOID:630 genetic disease ISO RGD:1349666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165774 ENPP5 ectonucleotide pyrophosphatase/phosphodiesterase family member 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12165788 COG3 component of oligomeric golgi complex 3 gene DOID:630 genetic disease ISO RGD:1312059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165815 HELZ2 helicase with zinc finger 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 12165815 HELZ2 helicase with zinc finger 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1604565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12165815 HELZ2 helicase with zinc finger 2 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1604565 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 12165815 HELZ2 helicase with zinc finger 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1604565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12165815 HELZ2 helicase with zinc finger 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1604565 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12165815 HELZ2 helicase with zinc finger 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 12165815 HELZ2 helicase with zinc finger 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12165815 HELZ2 helicase with zinc finger 2 gene DOID:630 genetic disease ISO RGD:1604565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165815 HELZ2 helicase with zinc finger 2 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1604565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 12165844 UBIAD1 UbiA prenyltransferase domain containing 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1603400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12165844 UBIAD1 UbiA prenyltransferase domain containing 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603400 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12165844 UBIAD1 UbiA prenyltransferase domain containing 1 gene DOID:0060456 Schnyder corneal dystrophy ISO RGD:1603400 D RGD:7240710 20180130 OMIM 12165844 UBIAD1 UbiA prenyltransferase domain containing 1 gene DOID:0060456 Schnyder corneal dystrophy ISO RGD:1603400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schnyder crystalline corneal dystrophy PMID:15034782|PMID:17668063|PMID:17962451|PMID:18176953|PMID:20505825|PMID:23169578|PMID:23564352|PMID:25741868|PMID:28492532|PMID:3486394|PMID:8190477|PMID:9450854 12165844 UBIAD1 UbiA prenyltransferase domain containing 1 gene DOID:630 genetic disease ISO RGD:1603400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165844 UBIAD1 UbiA prenyltransferase domain containing 1 gene DOID:9002860 Cardiac Edema ISO RGD:1603400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23533172 12165844 UBIAD1 UbiA prenyltransferase domain containing 1 gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1603400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23533172 12165844 UBIAD1 UbiA prenyltransferase domain containing 1 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1603400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 12165850 HOXB4 homeobox B4 gene DOID:630 genetic disease ISO RGD:1344417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165889 SEC24C SEC24 homolog C, COPII coat complex component gene DOID:10907 microcephaly ISO RGD:1321602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12165889 SEC24C SEC24 homolog C, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1321602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165929 MIR218-2 microRNA mir-218-2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1347035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28864214 12165929 MIR218-2 microRNA mir-218-2 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1347035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28864214 12165954 FOXJ3 forkhead box J3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1323400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12165954 FOXJ3 forkhead box J3 gene DOID:630 genetic disease ISO RGD:1323400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12165983 PLPP5 phospholipid phosphatase 5 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1607002 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 12165983 PLPP5 phospholipid phosphatase 5 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1607002 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 12165983 PLPP5 phospholipid phosphatase 5 gene DOID:607 paraplegia ISO RGD:1607002 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12165983 PLPP5 phospholipid phosphatase 5 gene DOID:630 genetic disease ISO RGD:1607002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:0050473 Alstrom syndrome ISO RGD:1323128 D RGD:7240710 20180130 OMIM 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:0050473 Alstrom syndrome ISO RGD:1323128 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome PMID:11941369|PMID:11941370|PMID:15689433|PMID:16199547|PMID:16720663|PMID:17576681|PMID:17594715|PMID:17850632|PMID:18038714|PMID:18154657|PMID:18414213|PMID:19763152|PMID:20307669|PMID:21157496|PMID:21877133|PMID:21897446|PMID:21901789|PMID:21943378|PMID:22406018|PMID:22447358|PMID:22533542|PMID:22555271|PMID:22773737|PMID:22876109|PMID:23188138|PMID:23847139|PMID:24033266|PMID:24049434|PMID:24462884|PMID:24503146|PMID:24595103|PMID:24830966|PMID:25268133|PMID:25296579|PMID:25468891|PMID:25533962|PMID:25640679|PMID:25706677|PMID:25741868|PMID:25846608|PMID:25999675|PMID:26010121|PMID:26047050|PMID:26077327|PMID:26082521|PMID:26104972|PMID:26111748|PMID:26239645|PMID:26283575|PMID:26285675|PMID:26467025|PMID:26566502|PMID:26633542|PMID:26636822|PMID:27178444|PMID:27665122|PMID:28402684|PMID:28432734|PMID:28492532|PMID:28502102|PMID:28717663|PMID:29079548|PMID:29193673|PMID:29345162|PMID:29588463|PMID:29610177|PMID:29715191|PMID:30029497|PMID:30064963|PMID:30311386|PMID:30488743|PMID:31607746|PMID:31630094|PMID:31638414|PMID:31755649|PMID:32531870|PMID:32581362|PMID:32944671|PMID:32973878|PMID:9063741|PMID:9409865|PMID:9536098 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:0050473 Alstrom syndrome ISO RGD:1323128 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome PMID:11941369|PMID:11941370|PMID:15689433|PMID:16199547|PMID:16720663|PMID:17576681|PMID:17594715|PMID:17850632|PMID:18038714|PMID:18154657|PMID:18195218|PMID:18414213|PMID:18654604|PMID:19283855|PMID:19763152|PMID:20307669|PMID:21128906|PMID:21157496|PMID:21877133|PMID:21897446|PMID:21901789|PMID:21943378|PMID:22406018|PMID:22447358|PMID:22533542|PMID:22555271|PMID:22773737|PMID:22876109|PMID:23188138|PMID:23661369|PMID:23847139|PMID:24033266|PMID:24049434|PMID:24257694|PMID:24400638|PMID:24462884|PMID:24503146|PMID:24595103|PMID:24690487|PMID:24830966|PMID:25268133|PMID:25296579|PMID:25468891|PMID:25469153|PMID:25533962|PMID:25640679|PMID:25706677|PMID:25741868|PMID:25846608|PMID:25999675|PMID:26010121|PMID:26047050|PMID:26066530|PMID:26077327|PMID:26082521|PMID:26104972|PMID:26111748|PMID:26239645|PMID:26283575|PMID:26285675|PMID:26467025|PMID:26566502|PMID:26633542|PMID:26636822|PMID:26704672|PMID:26992781|PMID:27178444|PMID:27486776|PMID:27665122|PMID:28112973|PMID:28145517|PMID:28402684|PMID:28432734|PMID:28456785|PMID:28492532|PMID:28502102|PMID:28717663|PMID:28724398|PMID:28912962|PMID:29079548|PMID:29193673|PMID:29302074|PMID:29345162|PMID:29588463|PMID:29590070|PMID:29610177|PMID:29715191|PMID:29718281|PMID:29961767|PMID:29970176|PMID:29976977|PMID:30029497|PMID:30054919|PMID:30064963|PMID:30311386|PMID:30421101|PMID:30488743|PMID:30513137|PMID:30532227|PMID:30600744|PMID:31106028|PMID:31456290|PMID:31607746|PMID:31624253|PMID:31630094|PMID:31638414|PMID:31755649|PMID:31810438|PMID:31898538|PMID:32349990|PMID:32483926|PMID:32503575|PMID:32531858|PMID:32531870|PMID:32581362|PMID:32682410|PMID:32746448|PMID:32856788|PMID:32944671|PMID:32973878|PMID:33502066|PMID:33669459|PMID:33924909|PMID:33981653|PMID:34147365|PMID:34148947|PMID:9063741|PMID:9409865|PMID:9536098 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:0050473 Alstrom syndrome susceptibility ISO RGD:1323128 D RGD:9068941 20200609 RGD DNA:frameshift mutations, nonsense mutations PMID:11941369|REF_RGD_ID:1601169 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:0050572 cone-rod dystrophy ISO RGD:1323128 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:17594715|PMID:25741868|PMID:26047050|PMID:26077327|PMID:28492532|PMID:29588463 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:0060786 hypomyelinating leukodystrophy ISO RGD:1323128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy PMID:17594715|PMID:24462884|PMID:25296579|PMID:25741868|PMID:26066530|PMID:26104972|PMID:27178444|PMID:28492532|PMID:32581362 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1323128 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:0080046 Stickler syndrome ISO RGD:1323128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stickler syndrome PMID:17594715|PMID:28492532|PMID:30311386 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:10579 leukodystrophy ISO RGD:1323128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:17594715|PMID:24462884|PMID:25296579|PMID:25741868|PMID:26066530|PMID:26104972|PMID:27178444|PMID:28492532|PMID:32581362 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:10584 retinitis pigmentosa ISO RGD:1323128 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17594715|PMID:25706677|PMID:25741868|PMID:25846608|PMID:28492532|PMID:30718709 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:1059 intellectual disability ISO RGD:1323128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17594715|PMID:25741868|PMID:25846608|PMID:28492532 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:1184 nephrotic syndrome ISO RGD:1323128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:28492532 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1323128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22447358 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:14250 Down syndrome ISO RGD:1323128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complete trisomy 21 syndrome PMID:28492532|PMID:30311386 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:14791 Leber congenital amaurosis ISO RGD:1323128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:26633542|PMID:28492532|PMID:31630094|PMID:31755649|PMID:32531870 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323128 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:15689433|PMID:17594715|PMID:24400638|PMID:25741868|PMID:28492532 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:543 dystonia ISO RGD:1323128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:630 genetic disease ISO RGD:1323128 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11941369|PMID:11941370|PMID:17576681|PMID:17594715|PMID:21897446|PMID:25741868|PMID:25846608|PMID:26111748|PMID:26704672|PMID:28492532|PMID:29302074|PMID:29718281|PMID:30064963|PMID:30488743|PMID:31106028|PMID:9536098 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:783 end stage renal disease ISO RGD:1323128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stage 5 chronic kidney disease PMID:17594715|PMID:24462884|PMID:25296579|PMID:25741868|PMID:26066530|PMID:26104972|PMID:27178444|PMID:28492532|PMID:32581362 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:8501 fundus dystrophy ISO RGD:1323128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11941369|PMID:11941370|PMID:15689433|PMID:16720663|PMID:17594715|PMID:21157496|PMID:21897446|PMID:22555271|PMID:23847139|PMID:24595103|PMID:25706677|PMID:25741868|PMID:25846608|PMID:28041643|PMID:28492532|PMID:30064963|PMID:31810438|PMID:32349990|PMID:32944671 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:9000343 Vision Disorders ISO RGD:1323128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:17594715|PMID:24462884|PMID:25296579|PMID:25741868|PMID:26066530|PMID:26104972|PMID:27178444|PMID:28492532|PMID:32581362 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1323128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:9004538 Hearing Loss ISO RGD:1323128 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:17594715|PMID:24462884|PMID:25296579|PMID:25741868|PMID:26066530|PMID:26104972|PMID:27178444|PMID:28492532|PMID:30311386|PMID:32581362 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:9008296 Eye Abnormalities ISO RGD:1323128 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:9008818 Retinal Dystrophy, Early Onset Severe ISO RGD:1323128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy, early-onset severe PMID:17594715|PMID:18414213|PMID:22876109|PMID:25741868|PMID:25846608|PMID:26704672|PMID:28112973|PMID:28432734|PMID:28492532|PMID:29718281 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:9351 diabetes mellitus ISO RGD:1323128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18154657|PMID:21157496|PMID:21943378|PMID:22876109|PMID:24033266|PMID:24503146|PMID:24830966|PMID:25296579|PMID:25533962|PMID:25741868|PMID:25846608|PMID:26082521|PMID:26104972|PMID:26239645|PMID:26283575|PMID:26467025|PMID:26636822|PMID:27178444|PMID:28432734|PMID:28492532|PMID:28502102|PMID:28717663|PMID:29610177 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:9351 diabetes mellitus ISO RGD:1323128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18154657|PMID:21157496|PMID:21943378|PMID:22876109|PMID:24033266|PMID:24503146|PMID:24830966|PMID:25296579|PMID:25533962|PMID:25741868|PMID:25846608|PMID:26082521|PMID:26104972|PMID:26239645|PMID:26283575|PMID:26467025|PMID:26636822|PMID:27178444|PMID:28432734|PMID:28492532|PMID:28502102|PMID:28717663|PMID:29610177|PMID:30421101|PMID:32746448|PMID:33669459|PMID:34148947 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1323128 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1320374, rs1881245, rs3820700 (human) PMID:16601972|REF_RGD_ID:8696017 12166001 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:9970 obesity ISO RGD:1616534 D RGD:9068941 20220825 MouseDO OMIM:601665 12166051 BCAS2 BCAS2 pre-mRNA processing factor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1315129 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27356265 12166051 BCAS2 BCAS2 pre-mRNA processing factor gene DOID:0080690 RASopathy ISO RGD:1315129 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12166051 BCAS2 BCAS2 pre-mRNA processing factor gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1315129 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 12166051 BCAS2 BCAS2 pre-mRNA processing factor gene DOID:1612 breast cancer ISO RGD:1315129 D RGD:9068941 20200609 RGD DNA:amplification:cds (human) PMID:12169396|REF_RGD_ID:9850147 12166051 BCAS2 BCAS2 pre-mRNA processing factor gene DOID:630 genetic disease ISO RGD:1315129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166065 ARNTL aryl hydrocarbon receptor nuclear translocator like gene DOID:1059 intellectual disability ISO RGD:732520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12166065 ARNTL aryl hydrocarbon receptor nuclear translocator like gene DOID:13580 cholestasis ISO RGD:62003 D RGD:9068941 20200609 RGD mRNA:increased expression:cholangiocyte PMID:21757639|REF_RGD_ID:10043349 12166065 ARNTL aryl hydrocarbon receptor nuclear translocator like gene DOID:5426 primary ovarian insufficiency ISO RGD:732520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12166065 ARNTL aryl hydrocarbon receptor nuclear translocator like gene DOID:630 genetic disease ISO RGD:732520 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166065 ARNTL aryl hydrocarbon receptor nuclear translocator like gene DOID:8552 chronic myeloid leukemia ISO RGD:732520 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16999817 12166065 ARNTL aryl hydrocarbon receptor nuclear translocator like gene DOID:9002644 Premature Aging ISO RGD:62295 D RGD:9068941 20200609 RGD PMID:16847346|REF_RGD_ID:10043345 12166065 ARNTL aryl hydrocarbon receptor nuclear translocator like gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:62003 D RGD:9068941 20200609 RGD protein:increased expression:pineal gland PMID:23336172|REF_RGD_ID:10043348 12166065 ARNTL aryl hydrocarbon receptor nuclear translocator like gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62003 D RGD:9068941 20200609 RGD PMID:18624957|REF_RGD_ID:2301030 12166065 ARNTL aryl hydrocarbon receptor nuclear translocator like gene DOID:9007102 Myocardial Ischemia ISO RGD:732520 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12166065 ARNTL aryl hydrocarbon receptor nuclear translocator like gene DOID:9007456 Female Infertility ISO RGD:732520 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:20200203 12166065 ARNTL aryl hydrocarbon receptor nuclear translocator like gene DOID:9007653 Multiple Abnormalities ISO RGD:732520 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:24652800 12166065 ARNTL aryl hydrocarbon receptor nuclear translocator like gene DOID:9278 hyperargininemia ISO RGD:732520 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:27056296 12166065 ARNTL aryl hydrocarbon receptor nuclear translocator like gene DOID:9351 diabetes mellitus ISO RGD:62295 D RGD:9068941 20220825 MouseDO 12166102 OGA O-GlcNAcase gene DOID:630 genetic disease ISO RGD:732641 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166102 OGA O-GlcNAcase gene DOID:9004009 Reperfusion Injury ISO RGD:621077 D RGD:9068941 20200609 RGD PMID:16899550|REF_RGD_ID:2305957 12166123 PPA2 inorganic pyrophosphatase 2 gene DOID:630 genetic disease ISO RGD:1604365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:27523597|PMID:27523598|PMID:28492532|PMID:30384889|PMID:31705601|PMID:33028643|PMID:33826954|PMID:34400813 12166123 PPA2 inorganic pyrophosphatase 2 gene DOID:9003269 Sudden Cardiac Failure, Infantile ISO RGD:1604365 D RGD:7240710 20190315 OMIM 12166123 PPA2 inorganic pyrophosphatase 2 gene DOID:9003269 Sudden Cardiac Failure, Infantile ISO RGD:1604365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden cardiac failure, infantile PMID:24033266|PMID:25741868|PMID:27523597|PMID:27523598|PMID:28492532|PMID:30384889|PMID:31705601|PMID:33028643|PMID:33826954|PMID:34400813 12166123 PPA2 inorganic pyrophosphatase 2 gene DOID:9004710 Alcohol-Induced Sudden Cardiac Failure ISO RGD:1604365 D RGD:7240710 20190315 OMIM 12166123 PPA2 inorganic pyrophosphatase 2 gene DOID:9004710 Alcohol-Induced Sudden Cardiac Failure ISO RGD:1604365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden cardiac failure, alcohol-induced PMID:24033266|PMID:25741868|PMID:27523597|PMID:27523598|PMID:28492532|PMID:30384889|PMID:31705601|PMID:33028643|PMID:34400813 12166140 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1604194 D RGD:9068941 20220630 RGD protein:increased expression:colon (human) PMID:27729429|REF_RGD_ID:152995521 12166140 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:10534 stomach cancer severity ISO RGD:1604194 D RGD:9068941 20220623 RGD associated with Lymphatic Metastasis;protein:increased expression:gastric tumor, lymph node (human) PMID:32588907|REF_RGD_ID:152995444 12166140 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:10534 stomach cancer severity ISO RGD:1604194 D RGD:9068941 20220623 RGD protein:increased expression:gastric tumor (human) PMID:26159923|REF_RGD_ID:152995448 12166140 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:1324 lung cancer ISO RGD:1604194 D RGD:9068941 20220630 RGD DNA:amplification: :lung (human) PMID:26370156|REF_RGD_ID:11535413 12166140 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:219 colon cancer ISO RGD:1604194 D RGD:9068941 20220623 RGD protein:increased expression:colon (human) PMID:24244675|REF_RGD_ID:152995458 12166140 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:219 colon cancer ISO RGD:1604194 D RGD:9068941 20220630 RGD human cells in mouse model PMID:20226010|REF_RGD_ID:152995494 12166140 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:219 colon cancer severity ISO RGD:1604194 D RGD:9068941 20220623 RGD mRNA:increased expression:colon (human) PMID:31932471|REF_RGD_ID:152995462 12166140 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:3007 breast ductal carcinoma ISO RGD:1604194 D RGD:9068941 20220623 RGD human cells in mouse model PMID:20978191|REF_RGD_ID:152995469 12166140 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:3121 gallbladder cancer ISO RGD:1604194 D RGD:9068941 20220630 RGD DNA:CNV, amplification:exon (human) PMID:24508317|REF_RGD_ID:152995522 12166140 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:1604194 D RGD:9068941 20220630 RGD protein:increased expression:lung (human) PMID:29885404|REF_RGD_ID:152995523 12166140 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1604194 D RGD:9068941 20220623 RGD human cells in mouse model PMID:30119206|REF_RGD_ID:152995460 12166140 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1604194 D RGD:9068941 20220630 RGD protein:increased expression:esophagus (human) PMID:32642408|REF_RGD_ID:152995512 12166140 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1604194 D RGD:9068941 20220623 RGD protein:increased expression:esophagus (human) PMID:28132115|REF_RGD_ID:152995470 12166140 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:5409 lung small cell carcinoma severity ISO RGD:1604194 D RGD:9068941 20220623 RGD associated with Neoplasm Metastasis; protein:increased expression:lung, lymph node (human) PMID:31454632|REF_RGD_ID:152995447 12166140 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:5409 lung small cell carcinoma severity ISO RGD:1604194 D RGD:9068941 20220630 RGD DNA:CNV, amplification:exon (human) PMID:27863413|REF_RGD_ID:152995517 12166140 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1604194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12166140 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:630 genetic disease ISO RGD:1604194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166140 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1556939 D RGD:9068941 20220630 RGD PMID:29303510|REF_RGD_ID:152995524 12166140 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1604194 D RGD:9068941 20220623 RGD mRNA, protein:increased expression:liver (human) PMID:25371154|REF_RGD_ID:152995471 12166140 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:8649 tongue cancer disease_progression ISO RGD:1604194 D RGD:9068941 20220630 RGD protein:increased expression:tongue (human) PMID:25749387|REF_RGD_ID:152995520 12166140 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1604194 D RGD:9068941 20220623 RGD associated with breast ductal carcinoma; protein:increased expression:breast tumor, lymph node (human) PMID:20978191|REF_RGD_ID:152995469 12166140 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:9002170 Experimental Neoplasms disease_progression ISO RGD:1556939 D RGD:9068941 20220623 RGD PMID:24244675|REF_RGD_ID:152995458 12166140 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12166140 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:9006618 Liver Metastasis ISO RGD:1556939 D RGD:9068941 20220623 RGD PMID:30404068|REF_RGD_ID:152995463 12166140 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:9006618 Liver Metastasis disease_progression ISO RGD:1604194 D RGD:9068941 20220623 RGD mRNA:increased expression:liver (human) PMID:30404068|REF_RGD_ID:152995463 12166140 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:9009121 lung metastasis ISO RGD:1556939 D RGD:9068941 20220630 RGD PMID:29809146|REF_RGD_ID:152995516 12166140 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:9009121 lung metastasis ISO RGD:1604194 D RGD:9068941 20220623 RGD human cells in mouse model PMID:20978191|REF_RGD_ID:152995469 12166140 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1604194 D RGD:9068941 20220630 RGD associated with Lymphatic Metastasis; protein:increased expression:colon (human) PMID:27063170|REF_RGD_ID:152995519 12166192 ZNF622 zinc finger protein 622 gene DOID:630 genetic disease ISO RGD:1319325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166192 ZNF622 zinc finger protein 622 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12166202 SPATA19 spermatogenesis associated 19 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12166202 SPATA19 spermatogenesis associated 19 gene DOID:5419 schizophrenia ISO RGD:1606425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12166202 SPATA19 spermatogenesis associated 19 gene DOID:630 genetic disease ISO RGD:1606425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166202 SPATA19 spermatogenesis associated 19 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12166231 RIT1 Ras like without CAAX 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1343782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12166231 RIT1 Ras like without CAAX 1 gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:1343782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome PMID:28492532 12166231 RIT1 Ras like without CAAX 1 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1343782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:23791108|PMID:24033266|PMID:24469055|PMID:24803665|PMID:24901346|PMID:25049390|PMID:25124994|PMID:25741868|PMID:25959749|PMID:26242988|PMID:26518681|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27226556|PMID:28492532|PMID:29158550|PMID:29402968|PMID:29734338|PMID:30105547|PMID:30732632|PMID:30898653|PMID:31219622|PMID:31292302|PMID:32396283|PMID:8462668 12166231 RIT1 Ras like without CAAX 1 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1343782 D RGD:7240710 20180130 OMIM 12166231 RIT1 Ras like without CAAX 1 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1343782 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:17576681|PMID:23791108|PMID:24033266|PMID:2439608|PMID:24469055|PMID:24803665|PMID:24896146|PMID:24901346|PMID:24939608|PMID:25049390|PMID:25124994|PMID:25294908|PMID:25741868|PMID:25959749|PMID:26242988|PMID:26446362|PMID:26518681|PMID:2657980|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27109146|PMID:27226556|PMID:27699752|PMID:28347726|PMID:28492532|PMID:28554332|PMID:29158550|PMID:29402968|PMID:29734338|PMID:30105547|PMID:30293990|PMID:30684668|PMID:30692697|PMID:30712878|PMID:30732632|PMID:30872527|PMID:30898653|PMID:31040167|PMID:31219622|PMID:31292302|PMID:31463572|PMID:31573083|PMID:32304219|PMID:32396283|PMID:32860008|PMID:33144663|PMID:33452774|PMID:34008892|PMID:34237269|PMID:34306696|PMID:7109146|PMID:8462668|PMID:9536098 12166231 RIT1 Ras like without CAAX 1 gene DOID:0080690 RASopathy ISO RGD:1343782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:23791108|PMID:24033266|PMID:2439608|PMID:24469055|PMID:24803665|PMID:24896146|PMID:24901346|PMID:24939608|PMID:25049390|PMID:25124994|PMID:25294908|PMID:25741868|PMID:25959749|PMID:26242988|PMID:26446362|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27109146|PMID:27226556|PMID:28347726|PMID:28492532|PMID:29158550|PMID:29402968|PMID:29734338|PMID:30105547|PMID:30293990|PMID:30712878|PMID:30732632|PMID:30898653|PMID:31040167|PMID:31219622|PMID:31292302|PMID:32304219|PMID:32396283|PMID:32860008|PMID:33144663|PMID:33452774|PMID:34008892|PMID:34237269|PMID:34306696|PMID:7109146|PMID:8462668 12166231 RIT1 Ras like without CAAX 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1343782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12166231 RIT1 Ras like without CAAX 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1343782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12166231 RIT1 Ras like without CAAX 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1343782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12166231 RIT1 Ras like without CAAX 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1343782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12166231 RIT1 Ras like without CAAX 1 gene DOID:1856 cherubism ISO RGD:1343782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12166231 RIT1 Ras like without CAAX 1 gene DOID:3490 Noonan syndrome ISO RGD:1343782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:23791108|PMID:24033266|PMID:2439608|PMID:24469055|PMID:24803665|PMID:24896146|PMID:24901346|PMID:24939608|PMID:25049390|PMID:25124994|PMID:25294908|PMID:25741868|PMID:25959749|PMID:26242988|PMID:26446362|PMID:2657980|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27109146|PMID:27226556|PMID:27699752|PMID:28347726|PMID:28492532|PMID:29158550|PMID:29402968|PMID:29734338|PMID:30105547|PMID:30293990|PMID:30712878|PMID:30732632|PMID:30898653|PMID:31040167|PMID:31219622|PMID:31292302|PMID:32304219|PMID:32396283|PMID:32860008|PMID:33144663|PMID:33452774|PMID:34008892|PMID:34237269|PMID:34306696|PMID:7109146|PMID:8462668 12166231 RIT1 Ras like without CAAX 1 gene DOID:5812 MHC class II deficiency ISO RGD:1343782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12166231 RIT1 Ras like without CAAX 1 gene DOID:630 genetic disease ISO RGD:1343782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23791108|PMID:24033266|PMID:24469055|PMID:24803665|PMID:24939608|PMID:25741868|PMID:25959749|PMID:26446362|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27109146|PMID:27226556|PMID:28347726|PMID:28492532|PMID:29734338|PMID:30692697|PMID:30732632|PMID:30872527|PMID:8462668 12166231 RIT1 Ras like without CAAX 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1343782 D RGD:9068941 20220721 RGD human cells in mouse model PMID:31247273|REF_RGD_ID:152999016 12166231 RIT1 Ras like without CAAX 1 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1343782 D RGD:9068941 20220721 RGD associated with esophagus squamous cell carcinoma; human cells in mouse model PMID:30348939|REF_RGD_ID:152999018 12166231 RIT1 Ras like without CAAX 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12166231 RIT1 Ras like without CAAX 1 gene DOID:9002647 Megalencephaly - Cutis Marmorata Telangiectatica Congenita ISO RGD:1343782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION PMID:24469055|PMID:25741868|PMID:28492532 12166231 RIT1 Ras like without CAAX 1 gene DOID:9003133 Hypertelorism ISO RGD:1343782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:24033266|PMID:25741868|PMID:26518681|PMID:27101134|PMID:28492532|PMID:28554332|PMID:29734338 12166231 RIT1 Ras like without CAAX 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1343782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:23791108|PMID:24469055|PMID:25049390|PMID:25124994|PMID:25741868|PMID:26242988|PMID:26446362|PMID:26714497|PMID:26757980|PMID:27101134|PMID:28492532 12166231 RIT1 Ras like without CAAX 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12166242 CACNG4 calcium voltage-gated channel auxiliary subunit gamma 4 gene DOID:630 genetic disease ISO RGD:735495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166242 CACNG4 calcium voltage-gated channel auxiliary subunit gamma 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628804 D RGD:9068941 20200609 RGD mRNA:decreased expression:sinoatrial node: PMID:27096430|REF_RGD_ID:13524560 12166242 CACNG4 calcium voltage-gated channel auxiliary subunit gamma 4 gene DOID:9408 acute myocardial infarction ISO RGD:735495 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood: PMID:27746059|REF_RGD_ID:13524557 12166250 ARMC2 armadillo repeat containing 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1350350 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 12166250 ARMC2 armadillo repeat containing 2 gene DOID:0111919 spermatogenic failure 38 ISO RGD:1350350 D RGD:7240710 20190619 OMIM 12166250 ARMC2 armadillo repeat containing 2 gene DOID:0111919 spermatogenic failure 38 ISO RGD:1350350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 38 PMID:30686508 12166250 ARMC2 armadillo repeat containing 2 gene DOID:12336 male infertility ISO RGD:1622123 D RGD:9068941 20220825 MouseDO 12166250 ARMC2 armadillo repeat containing 2 gene DOID:630 genetic disease ISO RGD:1350350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166278 POP1 POP1 homolog, ribonuclease P/MRP subunit gene DOID:0050640 anauxetic dysplasia 1 ISO RGD:1318482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12166278 POP1 POP1 homolog, ribonuclease P/MRP subunit gene DOID:0080962 anauxetic dysplasia 2 ISO RGD:1318482 D RGD:7240710 20190315 OMIM 12166278 POP1 POP1 homolog, ribonuclease P/MRP subunit gene DOID:0080962 anauxetic dysplasia 2 ISO RGD:1318482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia 2 PMID:21455487|PMID:25741868|PMID:27380734|PMID:28067412|PMID:28492532|PMID:30408610 12166278 POP1 POP1 homolog, ribonuclease P/MRP subunit gene DOID:0111590 Cohen syndrome ISO RGD:1318482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12166278 POP1 POP1 homolog, ribonuclease P/MRP subunit gene DOID:630 genetic disease ISO RGD:1318482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:31235738 12166305 OR2T4D olfactory receptor family 2 subfamily T member 4D gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1351833 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12166305 OR2T4D olfactory receptor family 2 subfamily T member 4D gene DOID:1540 parathyroid carcinoma ISO RGD:1351833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12166305 OR2T4D olfactory receptor family 2 subfamily T member 4D gene DOID:630 genetic disease ISO RGD:1351833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166305 OR2T4D olfactory receptor family 2 subfamily T member 4D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12166305 OR2T4D olfactory receptor family 2 subfamily T member 4D gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12166308 BBLN bublin coiled coil protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1342591 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12166308 BBLN bublin coiled coil protein gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1342591 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12166308 BBLN bublin coiled coil protein gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1342591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12166308 BBLN bublin coiled coil protein gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1342591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 12166308 BBLN bublin coiled coil protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1342591 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12166314 DPF1 double PHD fingers 1 gene DOID:630 genetic disease ISO RGD:1606329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166341 KHSRP KH-type splicing regulatory protein gene DOID:0080490 mucolipidosis type IV ISO RGD:1346672 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12166341 KHSRP KH-type splicing regulatory protein gene DOID:5409 lung small cell carcinoma ISO RGD:1346672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 12166341 KHSRP KH-type splicing regulatory protein gene DOID:630 genetic disease ISO RGD:1346672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166363 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:68580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:19732866|PMID:22586289|PMID:28492532 12166363 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:68580 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12166363 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:1059 intellectual disability ISO RGD:68580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12166363 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:10763 hypertension ISO RGD:68580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15220217 12166363 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:10763 hypertension ISO RGD:68580 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2276047,snp8,rs9886(human) PMID:15220217|REF_RGD_ID:1626127 12166363 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:630 genetic disease ISO RGD:68580 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12166363 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12166363 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:9002202 Opsismodysplasia ISO RGD:68580 D RGD:7240710 20180130 OMIM 12166363 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:9002202 Opsismodysplasia ISO RGD:68580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Opsismodysplasia PMID:17952091|PMID:23273567|PMID:23273569|PMID:25741868|PMID:25997753|PMID:27708270|PMID:28492532|PMID:28869677|PMID:29276006 12166363 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:68580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15220217 12166363 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:68580 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2276047,snp8(human) PMID:15220217|REF_RGD_ID:1626127 12166363 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:9007692 Insulin Resistance ISO RGD:68396 D RGD:9068941 20200609 RGD PMID:12453826|REF_RGD_ID:2312442 12166363 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:9007692 Insulin Resistance ISO RGD:68396 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X PMID:17327370|REF_RGD_ID:2312440 12166363 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:68580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12086927|PMID:25635986 12166363 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:68580 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2276047,snp8(human) PMID:15220217|REF_RGD_ID:1626127 12166363 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:68580 D RGD:9068941 20200609 RGD DNA:deletion:3' utr (human) PMID:12086927|REF_RGD_ID:633161 12166363 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:9970 obesity ISO RGD:68580 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2276047,snp8,rs9886(human) PMID:15220217|REF_RGD_ID:1626127 12166363 INPPL1 inositol polyphosphate phosphatase like 1 gene DOID:9993 hypoglycemia ISO RGD:68581 D RGD:9068941 20200609 RGD PMID:11343120|REF_RGD_ID:737755 12166395 LNPEP leucyl and cystinyl aminopeptidase gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732137 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12166395 LNPEP leucyl and cystinyl aminopeptidase gene DOID:127 leiomyoma disease_progression ISO RGD:732137 D RGD:9068941 20200609 RGD associated with Uterine Neoplasms;protein:increased expression:serum PMID:7446622|REF_RGD_ID:2314924 12166395 LNPEP leucyl and cystinyl aminopeptidase gene DOID:1612 breast cancer ISO RGD:732137 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:10508127|REF_RGD_ID:2314923 12166395 LNPEP leucyl and cystinyl aminopeptidase gene DOID:4450 renal cell carcinoma ISO RGD:732137 D RGD:9068941 20200609 RGD PMID:17692401|REF_RGD_ID:2314919 12166395 LNPEP leucyl and cystinyl aminopeptidase gene DOID:630 genetic disease ISO RGD:732137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166395 LNPEP leucyl and cystinyl aminopeptidase gene DOID:8488 polyhydramnios ISO RGD:732137 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:1789335|REF_RGD_ID:2311543 12166395 LNPEP leucyl and cystinyl aminopeptidase gene DOID:9002165 Diabetic Nephropathies ISO RGD:732137 D RGD:9068941 20200609 RGD PMID:1789335|REF_RGD_ID:2311543 12166395 LNPEP leucyl and cystinyl aminopeptidase gene DOID:9002762 Ovarian Neoplasms ISO RGD:732137 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:15907336|REF_RGD_ID:2314920 12166395 LNPEP leucyl and cystinyl aminopeptidase gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:732137 D RGD:9068941 20200609 RGD PMID:7446622|REF_RGD_ID:2314924 12166395 LNPEP leucyl and cystinyl aminopeptidase gene DOID:9004265 Endometrioid Carcinomas ISO RGD:732137 D RGD:9068941 20200609 RGD associated with Endometrial Neoplasms PMID:15218296|REF_RGD_ID:2314922 12166395 LNPEP leucyl and cystinyl aminopeptidase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12166395 LNPEP leucyl and cystinyl aminopeptidase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:621752 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16619500|REF_RGD_ID:1582109 12166395 LNPEP leucyl and cystinyl aminopeptidase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732137 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16619500 12166395 LNPEP leucyl and cystinyl aminopeptidase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732137 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12166395 LNPEP leucyl and cystinyl aminopeptidase gene DOID:9007715 Endometrial Neoplasms ISO RGD:732137 D RGD:9068941 20200609 RGD PMID:15491750|REF_RGD_ID:2314921 12166395 LNPEP leucyl and cystinyl aminopeptidase gene DOID:9008023 Memory Disorders ISO RGD:732137 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11730987 12166395 LNPEP leucyl and cystinyl aminopeptidase gene DOID:9352 type 2 diabetes mellitus ISO RGD:621752 D RGD:9068941 20200609 RGD PMID:16967782|REF_RGD_ID:2306436 12166395 LNPEP leucyl and cystinyl aminopeptidase gene DOID:9352 type 2 diabetes mellitus ISO RGD:732137 D RGD:9068941 20200609 RGD PMID:11701721|REF_RGD_ID:2311542 12166423 S100A13 S100 calcium binding protein A13 gene DOID:0111940 immunodeficiency 42 ISO RGD:1312636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12166423 S100A13 S100 calcium binding protein A13 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1312636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12166423 S100A13 S100 calcium binding protein A13 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1312636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12166423 S100A13 S100 calcium binding protein A13 gene DOID:1540 parathyroid carcinoma ISO RGD:1312636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12166423 S100A13 S100 calcium binding protein A13 gene DOID:5812 MHC class II deficiency ISO RGD:1312636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12166423 S100A13 S100 calcium binding protein A13 gene DOID:630 genetic disease ISO RGD:1312636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166423 S100A13 S100 calcium binding protein A13 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12166438 CCT6A chaperonin containing TCP1 subunit 6A gene DOID:0050724 PSPH deficiency ISO RGD:1312394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency PMID:28492532 12166438 CCT6A chaperonin containing TCP1 subunit 6A gene DOID:12849 autistic disorder ISO RGD:1312394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12166438 CCT6A chaperonin containing TCP1 subunit 6A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12166438 CCT6A chaperonin containing TCP1 subunit 6A gene DOID:630 genetic disease ISO RGD:1312394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166456 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:0050424 familial adenomatous polyposis ISO RGD:737492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25200834 12166456 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:737492 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12166456 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:2957 pulmonary tuberculosis ISO RGD:737492 D RGD:9068941 20201225 RGD protein:increased expression:urine PMID:29636444|REF_RGD_ID:40903003 12166456 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:737492 D RGD:9068941 20210115 RGD protein:increased processing:serum PMID:23436019|REF_RGD_ID:40907060 12166456 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:70881 D RGD:9068941 20210115 RGD protein:increased expression, increased processing:serum PMID:23436019|REF_RGD_ID:40907060 12166456 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:5082 liver cirrhosis ISO RGD:737492 D RGD:9068941 20201225 RGD associated with hepatitis B;protein:increased expression:serum PMID:24836184|REF_RGD_ID:40903002 12166456 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:5844 myocardial infarction ISO RGD:737492 D RGD:9068941 20200609 RGD PMID:10486281|REF_RGD_ID:1582334 12166456 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:630 genetic disease ISO RGD:737492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166456 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737492 D RGD:9068941 20201225 RGD associated with hepatitis B;protein:decreased expression:serum PMID:24836184|REF_RGD_ID:40903002 12166456 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:8805 intermediate coronary syndrome ISO RGD:737492 D RGD:9068941 20200609 RGD PMID:10486281|REF_RGD_ID:1582334 12166456 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9000039 Spinal Cord Injuries severity ISO RGD:70881 D RGD:9068941 20210115 RGD protein:decreased expression:cerebrospinal fluid PMID:21559420|REF_RGD_ID:40907059 12166456 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9000808 Hypercholesterolemia ISO RGD:737492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to PMID:14661079 12166456 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9000808 Hypercholesterolemia susceptibility ISO RGD:737492 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs3821831, homozygous C allele associated with higher total and HDL cholesterol PMID:14661079|REF_RGD_ID:1627650 12166456 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9002928 Colonic Neoplasms ISO RGD:70881 D RGD:9068941 20210115 RGD protein:increased expression:serum PMID:25200834|REF_RGD_ID:10449102 12166456 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9002928 Colonic Neoplasms ISO RGD:737492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25200834 12166456 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9003219 Invasive Pulmonary Aspergillosis ISO RGD:70881 D RGD:9068941 20201225 RGD protein:increased expression:respiratory system fluid/secretion, serum PMID:24360996|REF_RGD_ID:40903005 12166456 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9005036 Bacteremia ISO RGD:737493 D RGD:9068941 20210115 RGD protein:increased expression:liver, serum PMID:33348064|REF_RGD_ID:40907057 12166456 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9008163 Chronic Hepatitis B ISO RGD:737492 D RGD:9068941 20201225 RGD protein:increased expression:serum PMID:24836184|REF_RGD_ID:40903002 12166456 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9970 obesity ISO RGD:70881 D RGD:9068941 20210115 RGD PMID:22134356|REF_RGD_ID:11352709 12166457 FTCD formimidoyltransferase cyclodeaminase gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:733688 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 PMID:24801232|PMID:25741868|PMID:26467025|PMID:28492532 12166457 FTCD formimidoyltransferase cyclodeaminase gene DOID:0050663 Bethlem myopathy ISO RGD:733688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, benign congenital PMID:18414213|PMID:24801232|PMID:25741868|PMID:26467025|PMID:28492532 12166457 FTCD formimidoyltransferase cyclodeaminase gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:733688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12166457 FTCD formimidoyltransferase cyclodeaminase gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:733688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 12166457 FTCD formimidoyltransferase cyclodeaminase gene DOID:0110266 cataract 9 multiple types ISO RGD:733688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12166457 FTCD formimidoyltransferase cyclodeaminase gene DOID:0111679 glutamate formiminotransferase deficiency ISO RGD:733688 D RGD:7240710 20180130 OMIM 12166457 FTCD formimidoyltransferase cyclodeaminase gene DOID:0111679 glutamate formiminotransferase deficiency ISO RGD:733688 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glutamate formiminotransferase deficiency PMID:12815595|PMID:17576681|PMID:18414213|PMID:23757202|PMID:24801232|PMID:25741868|PMID:26467025|PMID:26633545|PMID:28492532|PMID:29178637|PMID:29869163|PMID:30740726|PMID:31589614|PMID:9536098 12166457 FTCD formimidoyltransferase cyclodeaminase gene DOID:1059 intellectual disability ISO RGD:733688 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26633545|PMID:28492532 12166457 FTCD formimidoyltransferase cyclodeaminase gene DOID:12849 autistic disorder ISO RGD:733688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12166457 FTCD formimidoyltransferase cyclodeaminase gene DOID:2661 myoepithelioma ISO RGD:733688 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor PMID:28492532 12166457 FTCD formimidoyltransferase cyclodeaminase gene DOID:630 genetic disease ISO RGD:733688 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12815595|PMID:23757202|PMID:25741868|PMID:26633545|PMID:28492532|PMID:29178637|PMID:29869163|PMID:30740726 12166457 FTCD formimidoyltransferase cyclodeaminase gene DOID:8584 Burkitt lymphoma ISO RGD:733688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 12166457 FTCD formimidoyltransferase cyclodeaminase gene DOID:891 progressive myoclonus epilepsy ISO RGD:733688 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12166457 FTCD formimidoyltransferase cyclodeaminase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:733688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:18414213|PMID:24801232|PMID:25741868|PMID:26467025|PMID:28492532 12166457 FTCD formimidoyltransferase cyclodeaminase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12166457 FTCD formimidoyltransferase cyclodeaminase gene DOID:9007626 Myosclerosis, Autosomal Recessive ISO RGD:733688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myosclerosis PMID:18414213|PMID:24801232|PMID:25741868|PMID:26467025|PMID:28492532 12166457 FTCD formimidoyltransferase cyclodeaminase gene DOID:9007913 Collagen VI-related Myopathy ISO RGD:733688 D RGD:8554872 20220531 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:18414213|PMID:24801232|PMID:25741868|PMID:26467025|PMID:28492532 12166457 FTCD formimidoyltransferase cyclodeaminase gene DOID:9263 homocystinuria ISO RGD:733688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12166457 FTCD formimidoyltransferase cyclodeaminase gene DOID:9562 primary ciliary dyskinesia ISO RGD:733688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12166494 CLEC1B C-type lectin domain family 1 member B gene DOID:0080600 COVID-19 ISO RGD:1346944 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12166494 CLEC1B C-type lectin domain family 1 member B gene DOID:630 genetic disease ISO RGD:1346944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166494 CLEC1B C-type lectin domain family 1 member B gene DOID:684 hepatocellular carcinoma ISO RGD:1346944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12166521 FAM120C family with sequence similarity 120C gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12166521 FAM120C family with sequence similarity 120C gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1603035 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 12166521 FAM120C family with sequence similarity 120C gene DOID:12849 autistic disorder ISO RGD:1603035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12166521 FAM120C family with sequence similarity 120C gene DOID:630 genetic disease ISO RGD:1603035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166544 APEX2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:0060063 sideroblastic anemia 1 ISO RGD:1350631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia, sideroblastic, 1 12166544 APEX2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12166544 APEX2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1350631 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 12166544 APEX2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:12849 autistic disorder ISO RGD:1350631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12166544 APEX2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:630 genetic disease ISO RGD:1350631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166555 C7H1orf53 chromosome 7 C1orf53 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1606868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12166555 C7H1orf53 chromosome 7 C1orf53 homolog gene DOID:630 genetic disease ISO RGD:1606868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166555 C7H1orf53 chromosome 7 C1orf53 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12166563 RAB43 RAB43, member RAS oncogene family gene DOID:0111947 immunodeficiency 21 ISO RGD:1603859 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12166563 RAB43 RAB43, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1603859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166563 RAB43 RAB43, member RAS oncogene family gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1603859 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 12166563 RAB43 RAB43, member RAS oncogene family gene DOID:9270 alkaptonuria ISO RGD:1603859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12166610 C4H10orf105 chromosome 4 C10orf105 homolog gene DOID:0050439 Usher syndrome ISO RGD:1346064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:12075507|PMID:15537665|PMID:18273900|PMID:21228398|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12166610 C4H10orf105 chromosome 4 C10orf105 homolog gene DOID:0050439 Usher syndrome ISO RGD:1346064 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:11138009|PMID:12075507|PMID:12522556|PMID:15537665|PMID:15660226|PMID:18273900|PMID:18429043|PMID:19683999|PMID:20146813|PMID:21228398|PMID:21569298|PMID:24033266|PMID:24875298|PMID:25468891|PMID:25741868|PMID:26467025|PMID:28492532 12166610 C4H10orf105 chromosome 4 C10orf105 homolog gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1346064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:11090341|PMID:11138009|PMID:16679490|PMID:21940737|PMID:25741868|PMID:28492532|PMID:30303587 12166610 C4H10orf105 chromosome 4 C10orf105 homolog gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:1346064 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:11138009|PMID:12075507|PMID:12522556|PMID:15537665|PMID:15660226|PMID:16199547|PMID:16679490|PMID:17850630|PMID:18273900|PMID:18429043|PMID:19683999|PMID:20146813|PMID:21228398|PMID:21569298|PMID:21940737|PMID:22135276|PMID:22899989|PMID:24033266|PMID:24875298|PMID:25468891|PMID:25741868|PMID:26467025|PMID:27610647|PMID:28492532|PMID:28847902|PMID:30303587|PMID:31445392 12166610 C4H10orf105 chromosome 4 C10orf105 homolog gene DOID:0110826 Usher syndrome type 1 ISO RGD:1346064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:11090341|PMID:11138009|PMID:12075507|PMID:12522556|PMID:15537665|PMID:15660226|PMID:16199547|PMID:17576681|PMID:18273900|PMID:18429043|PMID:19683999|PMID:20146813|PMID:20613545|PMID:21228398|PMID:21569298|PMID:21940737|PMID:22135276|PMID:24033266|PMID:24875298|PMID:25468891|PMID:25741868|PMID:26467025|PMID:27460420|PMID:28492532|PMID:30311386|PMID:9536098 12166610 C4H10orf105 chromosome 4 C10orf105 homolog gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1346064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:24033266|PMID:25741868|PMID:28492532 12166610 C4H10orf105 chromosome 4 C10orf105 homolog gene DOID:0110831 Usher syndrome type 1D ISO RGD:1346064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D PMID:11090341|PMID:11138009|PMID:12075507|PMID:15537665|PMID:15660226|PMID:17850630|PMID:18273900|PMID:18429043|PMID:20146813|PMID:20613545|PMID:21228398|PMID:21569298|PMID:21940737|PMID:22135276|PMID:22899989|PMID:24033266|PMID:24875298|PMID:25468891|PMID:25741868|PMID:25991456|PMID:26467025|PMID:27610647|PMID:28492532|PMID:28847902|PMID:30303587|PMID:30311386|PMID:31445392 12166610 C4H10orf105 chromosome 4 C10orf105 homolog gene DOID:0112008 pituitary adenoma 5 ISO RGD:1346064 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types PMID:12075507|PMID:15537665|PMID:18273900|PMID:21228398|PMID:24033266|PMID:24875298|PMID:25468891|PMID:25741868|PMID:26467025|PMID:28413019|PMID:28492532 12166610 C4H10orf105 chromosome 4 C10orf105 homolog gene DOID:630 genetic disease ISO RGD:1346064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11090341|PMID:11138009|PMID:20613545|PMID:21940737|PMID:25741868|PMID:28492532 12166610 C4H10orf105 chromosome 4 C10orf105 homolog gene DOID:8501 fundus dystrophy ISO RGD:1346064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24033266|PMID:28492532 12166610 C4H10orf105 chromosome 4 C10orf105 homolog gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1346064 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:11138009|PMID:12075507|PMID:12522556|PMID:15537665|PMID:15660226|PMID:18273900|PMID:18429043|PMID:19683999|PMID:20146813|PMID:21228398|PMID:21569298|PMID:24033266|PMID:24875298|PMID:25468891|PMID:25741868|PMID:26467025|PMID:28492532 12166610 C4H10orf105 chromosome 4 C10orf105 homolog gene DOID:9004538 Hearing Loss ISO RGD:1346064 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:25741868|PMID:28492532|PMID:30311386 12166610 C4H10orf105 chromosome 4 C10orf105 homolog gene DOID:9849 Meniere's disease ISO RGD:1346064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:18429043|PMID:24033266|PMID:25741868|PMID:28492532 12166619 TSPYL6 TSPY like 6 gene DOID:630 genetic disease ISO RGD:1603148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166643 PLET1 placenta expressed transcript 1 gene DOID:1059 intellectual disability ISO RGD:1343359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12166643 PLET1 placenta expressed transcript 1 gene DOID:630 genetic disease ISO RGD:1343359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166643 PLET1 placenta expressed transcript 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1343359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12166683 DOK6 docking protein 6 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1346452 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12166683 DOK6 docking protein 6 gene DOID:1059 intellectual disability ISO RGD:1346452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12166683 DOK6 docking protein 6 gene DOID:630 genetic disease ISO RGD:1346452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166683 DOK6 docking protein 6 gene DOID:6420 pulmonary valve stenosis ISO RGD:1346452 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12166683 DOK6 docking protein 6 gene DOID:8445 intestinal volvulus ISO RGD:1346452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12166683 DOK6 docking protein 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12166683 DOK6 docking protein 6 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1346452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12166694 FKTN fukutin gene DOID:0050559 Fukuyama congenital muscular dystrophy ISO RGD:1320791 D RGD:7240710 20180130 OMIM 12166694 FKTN fukutin gene DOID:0050559 Fukuyama congenital muscular dystrophy ISO RGD:1320791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebromuscular dystrophy, Fukuyama type | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED | ClinVar Annotator: match by term: Walker-Warburg Syndrome, Fktn-Related | ClinVar Annotator: match by term: Walker-Warburg syndrome, FKTN-related PMID:10545611|PMID:11153909|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15103718|PMID:16222679|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31983221|PMID:34008892|PMID:35131284|PMID:9536098|PMID:9690476 12166694 FKTN fukutin gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1320791 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28166811|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:30060766|PMID:32969603|PMID:33048919|PMID:34008892|PMID:34120883|PMID:9536098|PMID:9690476 12166694 FKTN fukutin gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1320791 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:16199547|PMID:17034757|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28166811|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:30060766|PMID:31983221|PMID:32969603|PMID:33048919|PMID:34008892|PMID:34120883|PMID:9536098|PMID:9690476 12166694 FKTN fukutin gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1320791 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:16199547|PMID:17034757|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28166811|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31983221|PMID:32969603|PMID:33048919|PMID:34008892|PMID:34120883|PMID:9536098|PMID:9690476 12166694 FKTN fukutin gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1320791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22522420|PMID:22958903|PMID:23582336|PMID:23746544|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31756055|PMID:31862442|PMID:31983221|PMID:32746448|PMID:32969603|PMID:33048919|PMID:34008892|PMID:34120883|PMID:35131284|PMID:9536098|PMID:9690476 12166694 FKTN fukutin gene DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ISO RGD:1320792 D RGD:9068941 20220825 MouseDO OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 12166694 FKTN fukutin gene DOID:0050700 cardiomyopathy ISO RGD:1320791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:14627679|PMID:17878207|PMID:21102627|PMID:25741868|PMID:26467025|PMID:28492532 12166694 FKTN fukutin gene DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L ISO RGD:1320791 D RGD:9068941 20200609 RGD DNA:deletion, insertion, missense mutation:exon: c.920G>A (p.R307Q), 1167insA, 1363delG (human) PMID:17044012|REF_RGD_ID:11576328 12166694 FKTN fukutin gene DOID:0110296 autosomal recessive limb-girdle muscular dystrophy type 2M ISO RGD:1320791 D RGD:7240710 20180130 OMIM 12166694 FKTN fukutin gene DOID:0110296 autosomal recessive limb-girdle muscular dystrophy type 2M ISO RGD:1320791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2M | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 13 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 PMID:10545611|PMID:11165248|PMID:14627679|PMID:17044012|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:20620061|PMID:20961758|PMID:21520333|PMID:22275357|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25741868|PMID:25821721|PMID:26350204|PMID:26467025|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:29590070|PMID:30060766|PMID:30975432|PMID:31983221|PMID:35131284 12166694 FKTN fukutin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1320791 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:28492532|PMID:32969603|PMID:33048919|PMID:34120883 12166694 FKTN fukutin gene DOID:0110444 dilated cardiomyopathy 1X ISO RGD:1320791 D RGD:7240710 20180130 OMIM 12166694 FKTN fukutin gene DOID:0110444 dilated cardiomyopathy 1X ISO RGD:1320791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH MILD OR NO PROXIMAL MUSCLE WEAKNESS | ClinVar Annotator: match by term: Dilated cardiomyopathy 1X PMID:10545611|PMID:11153909|PMID:11165248|PMID:14627679|PMID:15103718|PMID:16222679|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19266496|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:22037554|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25741868|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26809617|PMID:27065010|PMID:27124789|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28798025|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31862442|PMID:31983221|PMID:35131284|PMID:9690476 12166694 FKTN fukutin gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1320791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Hydrocephalus, agyria and retinal dysplasia | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:16199547|PMID:17034757|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22522420|PMID:22958903|PMID:23582336|PMID:23746544|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31983221|PMID:32969603|PMID:33048919|PMID:34008892|PMID:34120883|PMID:35131284|PMID:9536098|PMID:9690476 12166694 FKTN fukutin gene DOID:0112379 muscular dystrophy-dystroglycanopathy type B4 ISO RGD:1320791 D RGD:7240710 20180130 OMIM 12166694 FKTN fukutin gene DOID:0112379 muscular dystrophy-dystroglycanopathy type B4 ISO RGD:1320791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED PMID:10545611|PMID:11165248|PMID:14627679|PMID:17044012|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19396839|PMID:20620061|PMID:20961758|PMID:21520333|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25741868|PMID:25821721|PMID:26350204|PMID:26467025|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:29590070|PMID:30060766|PMID:30975432|PMID:31983221|PMID:35131284 12166694 FKTN fukutin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1320791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:18414213|PMID:22037554|PMID:25741868|PMID:28492532 12166694 FKTN fukutin gene DOID:12930 dilated cardiomyopathy ISO RGD:1320791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17597323|PMID:25741868|PMID:26633542|PMID:28492532 12166694 FKTN fukutin gene DOID:630 genetic disease ISO RGD:1320791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18752264|PMID:21520333|PMID:22275357|PMID:25741868|PMID:26467025|PMID:28492532 12166694 FKTN fukutin gene DOID:9005141 Ventricular Tachycardia ISO RGD:1320791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:26467025|PMID:28492532 12166694 FKTN fukutin gene DOID:9006181 Congenital Muscular Dystrophy with Central Nervous System Involvement ISO RGD:1320791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement PMID:10545611|PMID:11153909|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15103718|PMID:16222679|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31983221|PMID:34008892|PMID:35131284|PMID:9536098|PMID:9690476 12166694 FKTN fukutin gene DOID:9008086 Developmental Disabilities ISO RGD:1320791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12166694 FKTN fukutin gene DOID:9884 muscular dystrophy ISO RGD:1320791 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16531417 12166694 FKTN fukutin gene DOID:9884 muscular dystrophy ISO RGD:1320791 D RGD:9068941 20200609 RGD PMID:10852541|REF_RGD_ID:11576326 12166694 FKTN fukutin gene DOID:9884 muscular dystrophy ISO RGD:1320791 D RGD:9068941 20200609 RGD DNA:deletion, missense mutations, nonsense mutation:exon, intron:multiple PMID:20961758|REF_RGD_ID:11070464 12166694 FKTN fukutin gene DOID:9884 muscular dystrophy ISO RGD:1320791 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutation:exon:multiple PMID:19179078|REF_RGD_ID:11576323 12166694 FKTN fukutin gene DOID:9884 muscular dystrophy ISO RGD:1320791 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:c.340G>A, c.527T>C (human) PMID:19342235|REF_RGD_ID:11576325 12166714 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:0070111 Niemann-Pick disease type A ISO RGD:1349414 D RGD:7240710 20180130 OMIM 12166714 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:0070111 Niemann-Pick disease type A ISO RGD:1349414 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:10464620|PMID:10694919|PMID:12369017|PMID:12556236|PMID:12607113|PMID:12712061|PMID:1301192|PMID:1391960|PMID:14681755|PMID:15221801|PMID:15234149|PMID:15241805|PMID:15545621|PMID:15557261|PMID:15612058|PMID:15653433|PMID:15877209|PMID:16010684|PMID:16151905|PMID:1618760|PMID:16199547|PMID:16264060|PMID:16434659|PMID:16472269|PMID:16642440|PMID:17011332|PMID:1718266|PMID:17360762|PMID:17876723|PMID:18052040|PMID:1840600|PMID:18625664|PMID:18815062|PMID:1885770|PMID:19050888|PMID:19405096|PMID:19411774|PMID:20111001|PMID:2023926|PMID:20386867|PMID:21098024|PMID:21228398|PMID:21454466|PMID:21502868|PMID:21621718|PMID:22367733|PMID:22796693|PMID:22818240|PMID:23188845|PMID:23252888|PMID:23356216|PMID:23412609|PMID:23415435|PMID:23418865|PMID:23420949|PMID:23430512|PMID:23430884|PMID:23430949|PMID:23535491|PMID:23757202|PMID:23871123|PMID:24033266|PMID:24446175|PMID:24718843|PMID:24767253|PMID:25144372|PMID:25301364|PMID:25741868|PMID:25811928|PMID:25834946|PMID:25920558|PMID:25933391|PMID:26046366|PMID:26049896|PMID:26169295|PMID:26169695|PMID:26320887|PMID:26377108|PMID:26499107|PMID:26550340|PMID:26790753|PMID:26851525|PMID:26913189|PMID:26981555|PMID:26990548|PMID:27238910|PMID:27243974|PMID:27338287|PMID:27349982|PMID:27435900|PMID:27659707|PMID:27725636|PMID:27814975|PMID:27865842|PMID:28255779|PMID:28259515|PMID:28302345|PMID:28475290|PMID:28492532|PMID:28590786|PMID:28600779|PMID:28703315|PMID:28801223|PMID:29140481|PMID:29485843|PMID:29556840|PMID:29966168|PMID:29995201|PMID:30153451|PMID:30788890|PMID:30795770|PMID:30912297|PMID:31122880|PMID:31139477|PMID:31965297|PMID:31980526|PMID:32036093|PMID:32071839|PMID:32280632|PMID:32292456|PMID:32375665|PMID:32714837|PMID:32860008|PMID:33083013|PMID:33100332|PMID:33675270|PMID:34273913|PMID:34867278|PMID:35342016|PMID:35747619|PMID:36195244|PMID:7762557|PMID:8051942|PMID:8053910|PMID:8401540|PMID:8407868|PMID:8499909|PMID:8664904|PMID:8680412|PMID:8693491|PMID:9042807|PMID:9266408 12166714 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:0070112 Niemann-Pick disease type B ISO RGD:1349414 D RGD:7240710 20180130 OMIM 12166714 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:0070112 Niemann-Pick disease type B ISO RGD:1349414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:10464620|PMID:10694919|PMID:12369017|PMID:12556236|PMID:12607113|PMID:12694237|PMID:12712061|PMID:1301192|PMID:1391960|PMID:14681755|PMID:15221801|PMID:15234149|PMID:15241805|PMID:15545621|PMID:15557261|PMID:15653433|PMID:15877209|PMID:16010684|PMID:16151905|PMID:1618760|PMID:16199547|PMID:16264060|PMID:16434659|PMID:16472269|PMID:16642440|PMID:17011332|PMID:1718266|PMID:17360762|PMID:17876723|PMID:18052040|PMID:1840600|PMID:18625664|PMID:18815062|PMID:1885770|PMID:19050888|PMID:19405096|PMID:19411774|PMID:20111001|PMID:2023926|PMID:20386867|PMID:21098024|PMID:21228398|PMID:21454466|PMID:21502868|PMID:21621718|PMID:22367733|PMID:22796693|PMID:22818240|PMID:23188845|PMID:23252888|PMID:23356216|PMID:23412609|PMID:23415435|PMID:23418865|PMID:23420949|PMID:23430512|PMID:23430884|PMID:23430949|PMID:23535491|PMID:23724191|PMID:23757202|PMID:23871123|PMID:24033266|PMID:24446175|PMID:24643943|PMID:24718843|PMID:24767253|PMID:25144372|PMID:25741868|PMID:25811928|PMID:25834946|PMID:25920558|PMID:25933391|PMID:26046366|PMID:26049896|PMID:26084044|PMID:26169295|PMID:26169695|PMID:26320887|PMID:26377108|PMID:26499107|PMID:26550340|PMID:26790753|PMID:26851525|PMID:26913189|PMID:26981555|PMID:26990548|PMID:27238910|PMID:27243974|PMID:27338287|PMID:27349982|PMID:27435900|PMID:27659707|PMID:27725636|PMID:27814975|PMID:27865842|PMID:27884455|PMID:28255779|PMID:28259515|PMID:28302345|PMID:28475290|PMID:28492532|PMID:28590786|PMID:28600779|PMID:28703315|PMID:28801223|PMID:29140481|PMID:29485843|PMID:29556840|PMID:29966168|PMID:29995201|PMID:30153451|PMID:30788890|PMID:30795770|PMID:30912297|PMID:31122880|PMID:31139477|PMID:31965297|PMID:31980526|PMID:32005694|PMID:32036093|PMID:32071839|PMID:32292456|PMID:32375665|PMID:32714837|PMID:32860008|PMID:33083013|PMID:33100332|PMID:33675270|PMID:34273913|PMID:34660203|PMID:34867278|PMID:35747619|PMID:7762557|PMID:8051942|PMID:8053910|PMID:8225311|PMID:8401540|PMID:8407868|PMID:8499909|PMID:8664904|PMID:8680412|PMID:8693491|PMID:9042807|PMID:9266408 12166714 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1349414 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, subacute juvenile form PMID:1391960|PMID:15221801|PMID:18815062|PMID:1885770|PMID:2023926|PMID:25741868|PMID:27338287|PMID:27725636|PMID:28492532|PMID:31965297|PMID:32292456 12166714 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:1349414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A PMID:12369017|PMID:15221801|PMID:15234149|PMID:15241805|PMID:19405096|PMID:23252888|PMID:23430884|PMID:24767253|PMID:25741868|PMID:26499107|PMID:28492532 12166714 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:1059 intellectual disability ISO RGD:1349414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12166714 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1349414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12166714 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:14504 Niemann-Pick disease ISO RGD:1349414 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acid sphingomyelinase deficiency | ClinVar Annotator: match by term: Niemann-Pick disease PMID:1391960|PMID:15221801|PMID:18815062|PMID:1885770|PMID:2023926|PMID:25741868|PMID:27338287|PMID:27725636|PMID:28492532|PMID:31965297|PMID:32292456 12166714 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:14504 Niemann-Pick disease susceptibility ISO RGD:1349414 D RGD:9068941 20200609 RGD Niemann-Pick Disease, Type A, OMIM:257200, Type B, OMIM:607616;DNA:deletions, missense mutations: :multiple PMID:12556236|REF_RGD_ID:1601336 12166714 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:1926 Gaucher's disease ISO RGD:1349414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gaucher disease PMID:25741868|PMID:28492532 12166714 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:557 kidney disease ISO RGD:1349414 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26980705 12166714 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:630 genetic disease ISO RGD:1349414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12369017|PMID:14681755|PMID:15234149|PMID:15241805|PMID:15877209|PMID:17011332|PMID:20111001|PMID:22367733|PMID:23252888|PMID:23412609|PMID:23420949|PMID:23430949|PMID:23871123|PMID:25741868|PMID:26499107|PMID:26550340|PMID:26981555|PMID:28255779|PMID:28259515|PMID:28492532|PMID:28590786|PMID:28703315|PMID:29556840|PMID:30788890|PMID:30795770|PMID:9266408 12166714 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:893 Wilson disease severity ISO RGD:1549719 D RGD:9068941 20200609 RGD PMID:17259995|REF_RGD_ID:1601345 12166714 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1349414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24951586 12166714 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:9004942 Niemann-Pick Disease, Intermediate, Protracted Neurovisceral ISO RGD:1349414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Niemann-pick disease, intermediate, protracted neurovisceral PMID:14681755|PMID:15234149|PMID:15241805|PMID:15877209|PMID:17011332|PMID:17360762|PMID:23412609|PMID:23420949|PMID:23430949|PMID:25741868|PMID:26981555|PMID:28492532|PMID:28703315|PMID:7762557|PMID:8051942|PMID:9266408 12166714 SMPD1 sphingomyelin phosphodiesterase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1549719 D RGD:9068941 20200609 RGD protein:decreased expression:gastrocnemius PMID:14983401|REF_RGD_ID:1601347 12166724 TESPA1 thymocyte expressed, positive selection associated 1 gene DOID:630 genetic disease ISO RGD:1605107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166745 DUSP5 dual specificity phosphatase 5 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:1345576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 12166745 DUSP5 dual specificity phosphatase 5 gene DOID:10763 hypertension ISO RGD:1345576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25397684 12166745 DUSP5 dual specificity phosphatase 5 gene DOID:1936 atherosclerosis ameliorates ISO RGD:1622924 D RGD:9068941 20230330 RGD ApoE knockout mice PMID:30529164|REF_RGD_ID:243048424 12166745 DUSP5 dual specificity phosphatase 5 gene DOID:630 genetic disease ISO RGD:1345576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166745 DUSP5 dual specificity phosphatase 5 gene DOID:9000998 Brain Injuries ISO RGD:620854 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:12503083|REF_RGD_ID:2317873 12166745 DUSP5 dual specificity phosphatase 5 gene DOID:9002231 Fetal Growth Retardation ISO RGD:620854 D RGD:9068941 20200609 RGD PMID:16940436|REF_RGD_ID:2317872 12166745 DUSP5 dual specificity phosphatase 5 gene DOID:9003139 Cardiac Fibrosis ISO RGD:620854 D RGD:9068941 20230225 RGD mRNA,protein:decreased expression:cardiac muscle tissue (rat) PMID:27318893|REF_RGD_ID:156430318 12166753 ZSCAN20 zinc finger and SCAN domain containing 20 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1353276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12166753 ZSCAN20 zinc finger and SCAN domain containing 20 gene DOID:630 genetic disease ISO RGD:1353276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166788 C2CD2L C2CD2 like gene DOID:0060017 CD3epsilon deficiency ISO RGD:1321089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12166788 C2CD2L C2CD2 like gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1321089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12166788 C2CD2L C2CD2 like gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1321089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:22742743|PMID:28492532 12166788 C2CD2L C2CD2 like gene DOID:0080690 RASopathy ISO RGD:1321089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 12166788 C2CD2L C2CD2 like gene DOID:0110651 long QT syndrome 10 ISO RGD:1321089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12166788 C2CD2L C2CD2 like gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1321089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:22742743|PMID:28492532 12166788 C2CD2L C2CD2 like gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1321089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12166788 C2CD2L C2CD2 like gene DOID:0111971 immunodeficiency 18 ISO RGD:1321089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12166788 C2CD2L C2CD2 like gene DOID:0111972 immunodeficiency 19 ISO RGD:1321089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12166788 C2CD2L C2CD2 like gene DOID:0111973 immunodeficiency 17 ISO RGD:1321089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12166788 C2CD2L C2CD2 like gene DOID:5419 schizophrenia ISO RGD:1321089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12166788 C2CD2L C2CD2 like gene DOID:630 genetic disease ISO RGD:1321089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166788 C2CD2L C2CD2 like gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1321089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12166788 C2CD2L C2CD2 like gene DOID:9007661 Dwarfism ISO RGD:1321089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12166812 CASKIN1 CASK interacting protein 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1351061 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 12166812 CASKIN1 CASK interacting protein 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1351061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 12166812 CASKIN1 CASK interacting protein 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1351061 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12166812 CASKIN1 CASK interacting protein 1 gene DOID:1826 epilepsy ISO RGD:1351061 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12166812 CASKIN1 CASK interacting protein 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1351061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12166812 CASKIN1 CASK interacting protein 1 gene DOID:2871 endometrial carcinoma ISO RGD:1351061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 12166812 CASKIN1 CASK interacting protein 1 gene DOID:630 genetic disease ISO RGD:1351061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166812 CASKIN1 CASK interacting protein 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1351061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12166836 CLDN5 claudin 5 gene DOID:0060041 autism spectrum disorder ISO RGD:68644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12166836 CLDN5 claudin 5 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:68644 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12166836 CLDN5 claudin 5 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:68644 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12166836 CLDN5 claudin 5 gene DOID:0060496 respiratory allergy ISO RGD:68644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30608172 12166836 CLDN5 claudin 5 gene DOID:0111996 immunodeficiency 51 ISO RGD:68644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12166836 CLDN5 claudin 5 gene DOID:1059 intellectual disability ISO RGD:68644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12166836 CLDN5 claudin 5 gene DOID:11198 DiGeorge syndrome ISO RGD:68644 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12166836 CLDN5 claudin 5 gene DOID:11372 megacolon ISO RGD:68644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12166836 CLDN5 claudin 5 gene DOID:12583 velocardiofacial syndrome ISO RGD:68644 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12166836 CLDN5 claudin 5 gene DOID:12849 autistic disorder ISO RGD:68644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12166836 CLDN5 claudin 5 gene DOID:1790 malignant mesothelioma ISO RGD:68644 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 12166836 CLDN5 claudin 5 gene DOID:1826 epilepsy ISO RGD:68644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12166836 CLDN5 claudin 5 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:68431 D RGD:9068941 20200609 RGD PMID:24842554|REF_RGD_ID:13204729 12166836 CLDN5 claudin 5 gene DOID:5419 schizophrenia ISO RGD:68644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12166836 CLDN5 claudin 5 gene DOID:612 primary immunodeficiency disease ISO RGD:68644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12166836 CLDN5 claudin 5 gene DOID:630 genetic disease ISO RGD:68644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166836 CLDN5 claudin 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12166836 CLDN5 claudin 5 gene DOID:9007661 Dwarfism ISO RGD:68644 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12166836 CLDN5 claudin 5 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:68431 D RGD:9068941 20200609 RGD protein:decreased expression:colon: PMID:19929946|REF_RGD_ID:2325127 12166836 CLDN5 claudin 5 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:68644 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12166842 LOC100856176 tubulin gamma-2 chain gene DOID:630 genetic disease ISO RGD:1316944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166861 DMRTA2 DMRT like family A2 gene DOID:630 genetic disease ISO RGD:1343593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12166880 DIO1 iodothyronine deiodinase 1 gene DOID:2855 hyperthyroxinemia ISO RGD:735269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3346351 12166880 DIO1 iodothyronine deiodinase 1 gene DOID:50 thyroid gland disease ISO RGD:735269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17105838 12166880 DIO1 iodothyronine deiodinase 1 gene DOID:630 genetic disease ISO RGD:735269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166880 DIO1 iodothyronine deiodinase 1 gene DOID:655 inherited metabolic disorder ISO RGD:735269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17105838 12166880 DIO1 iodothyronine deiodinase 1 gene DOID:9000651 Abnormal Thyroid Hormone Metabolism 2 ISO RGD:735269 D RGD:7240710 20220427 OMIM 12166880 DIO1 iodothyronine deiodinase 1 gene DOID:9000651 Abnormal Thyroid Hormone Metabolism 2 ISO RGD:735269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Thyroid hormone metabolism, abnormal, 2 PMID:32718224 12166880 DIO1 iodothyronine deiodinase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 12166880 DIO1 iodothyronine deiodinase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2504 D RGD:9068941 20200609 RGD PMID:11765219|REF_RGD_ID:727335 12166888 VEGFA vascular endothelial growth factor A gene DOID:0001816 angiosarcoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 12166888 VEGFA vascular endothelial growth factor A gene DOID:0002116 pterygium ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:conjunctiva: PMID:15885787|REF_RGD_ID:8549762 12166888 VEGFA vascular endothelial growth factor A gene DOID:0050185 erythema multiforme ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:7738351|REF_RGD_ID:7421578 12166888 VEGFA vascular endothelial growth factor A gene DOID:0050444 infantile Refsum disease ISO RGD:731072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12166888 VEGFA vascular endothelial growth factor A gene DOID:0050589 inflammatory bowel disease disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:serum,colon: PMID:23642997|REF_RGD_ID:11079180 12166888 VEGFA vascular endothelial growth factor A gene DOID:0050700 cardiomyopathy ISO RGD:731073 D RGD:9068941 20200609 RGD PMID:10229225|REF_RGD_ID:1580578 12166888 VEGFA vascular endothelial growth factor A gene DOID:0050852 limb ischemia treatment ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:23562340|REF_RGD_ID:7421600 12166888 VEGFA vascular endothelial growth factor A gene DOID:0050866 oral squamous cell carcinoma ISO RGD:731072 D RGD:9068941 20220811 RGD protein:increased expression:oral mucosa (human) PMID:26044849|REF_RGD_ID:153323290 12166888 VEGFA vascular endothelial growth factor A gene DOID:0060071 pre-malignant neoplasm ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12399228 12166888 VEGFA vascular endothelial growth factor A gene DOID:0060074 ductal carcinoma in situ ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:19623180|REF_RGD_ID:2315458 12166888 VEGFA vascular endothelial growth factor A gene DOID:0060108 brain glioma ISO RGD:731072 D RGD:9068941 20220310 RGD protein:increased expression:brain (human) PMID:33900414|REF_RGD_ID:151660356 12166888 VEGFA vascular endothelial growth factor A gene DOID:0060181 ischemic colitis ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:15770733|REF_RGD_ID:1580570 12166888 VEGFA vascular endothelial growth factor A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:731073 D RGD:9068941 20220825 MouseDO OMIM:105400 12166888 VEGFA vascular endothelial growth factor A gene DOID:0060224 atrial fibrillation ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart: PMID:20631454|REF_RGD_ID:8551825 12166888 VEGFA vascular endothelial growth factor A gene DOID:0060496 respiratory allergy ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30608172 12166888 VEGFA vascular endothelial growth factor A gene DOID:0060643 primary sclerosing cholangitis ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:26615570|REF_RGD_ID:11538286 12166888 VEGFA vascular endothelial growth factor A gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:16388189|REF_RGD_ID:1580567 12166888 VEGFA vascular endothelial growth factor A gene DOID:0080600 COVID-19 severity ISO RGD:731072 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 12166888 VEGFA vascular endothelial growth factor A gene DOID:0081267 graft-versus-host disease ISO RGD:731072 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:25759146|REF_RGD_ID:11079181 12166888 VEGFA vascular endothelial growth factor A gene DOID:0111252 neurofibromatosis 2 ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:19587327|REF_RGD_ID:8547957 12166888 VEGFA vascular endothelial growth factor A gene DOID:0111252 neurofibromatosis 2 ISO RGD:731073 D RGD:9068941 20200609 RGD PMID:20406973|REF_RGD_ID:8547955 12166888 VEGFA vascular endothelial growth factor A gene DOID:0111253 neurofibromatosis 1 ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:dermis PMID:12930297|REF_RGD_ID:8547970 12166888 VEGFA vascular endothelial growth factor A gene DOID:10283 prostate cancer ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:19576799|REF_RGD_ID:2315459 12166888 VEGFA vascular endothelial growth factor A gene DOID:10584 retinitis pigmentosa ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:eye: PMID:18326689|REF_RGD_ID:7483592 12166888 VEGFA vascular endothelial growth factor A gene DOID:10591 pre-eclampsia ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:16517614|REF_RGD_ID:1580566 12166888 VEGFA vascular endothelial growth factor A gene DOID:10591 pre-eclampsia ISO RGD:731072 D RGD:9068941 20221103 RGD mRNA:decreased expression:chorionic villus (human) PMID:22840297|REF_RGD_ID:155631283 12166888 VEGFA vascular endothelial growth factor A gene DOID:10652 Alzheimer's disease ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15732116 12166888 VEGFA vascular endothelial growth factor A gene DOID:10652 Alzheimer's disease ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:15732116|REF_RGD_ID:1580571 12166888 VEGFA vascular endothelial growth factor A gene DOID:10754 otitis media ISO RGD:731073 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:middle ear,inner ear: PMID:21271590|REF_RGD_ID:8547980 12166888 VEGFA vascular endothelial growth factor A gene DOID:10754 otitis media ISO RGD:731073 D RGD:9068941 20200609 RGD mRNA:increased expression:middle ear: PMID:22104377|REF_RGD_ID:8547975 12166888 VEGFA vascular endothelial growth factor A gene DOID:10762 portal hypertension ISO RGD:619991 D RGD:9068941 20200609 RGD protein:increased expression:mesentary PMID:26627607|REF_RGD_ID:11528851 12166888 VEGFA vascular endothelial growth factor A gene DOID:10762 portal hypertension ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18416461 12166888 VEGFA vascular endothelial growth factor A gene DOID:10763 hypertension ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:16164572|REF_RGD_ID:1580573 12166888 VEGFA vascular endothelial growth factor A gene DOID:10763 hypertension treatment ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:20630084|REF_RGD_ID:8552374 12166888 VEGFA vascular endothelial growth factor A gene DOID:10808 gastric ulcer ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11353854 12166888 VEGFA vascular endothelial growth factor A gene DOID:10873 Kuhnt-Junius degeneration treatment ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:SNP: :rs3025000(human) PMID:23149126|REF_RGD_ID:7483627 12166888 VEGFA vascular endothelial growth factor A gene DOID:10873 Kuhnt-Junius degeneration treatment ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:SNP: :rs943080(human) PMID:23745581|REF_RGD_ID:7483607 12166888 VEGFA vascular endothelial growth factor A gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:15178644|REF_RGD_ID:1580558 12166888 VEGFA vascular endothelial growth factor A gene DOID:10941 intracranial aneurysm ISO RGD:731072 D RGD:9068941 20230202 RGD mRNA,protein:increased expression:artery PMID:32602008|REF_RGD_ID:155882593 12166888 VEGFA vascular endothelial growth factor A gene DOID:10964 cholesteatoma of middle ear ISO RGD:731072 D RGD:9068941 20200609 RGD protein:altered expression:mucosa of the middle ear: PMID:11078065|REF_RGD_ID:8547968 12166888 VEGFA vascular endothelial growth factor A gene DOID:11054 urinary bladder cancer ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA:increased expression:bladder PMID:22895562|REF_RGD_ID:13605607 12166888 VEGFA vascular endothelial growth factor A gene DOID:11198 DiGeorge syndrome ISO RGD:731073 D RGD:9068941 20220825 MouseDO OMIM:188400 12166888 VEGFA vascular endothelial growth factor A gene DOID:11382 corneal neovascularization ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9301478 12166888 VEGFA vascular endothelial growth factor A gene DOID:11382 corneal neovascularization ISO RGD:731073 D RGD:9068941 20200609 RGD PMID:22467572|REF_RGD_ID:7483619 12166888 VEGFA vascular endothelial growth factor A gene DOID:11382 corneal neovascularization ISO RGD:731073 D RGD:9068941 20200609 RGD associated with Herpes Simplex;protein:increased expression:cornea: PMID:21325621|REF_RGD_ID:8547993 12166888 VEGFA vascular endothelial growth factor A gene DOID:11396 pulmonary edema ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:16793871|REF_RGD_ID:1580547 12166888 VEGFA vascular endothelial growth factor A gene DOID:114 heart disease ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 12166888 VEGFA vascular endothelial growth factor A gene DOID:11612 polycystic ovary syndrome ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:15653207|REF_RGD_ID:8549491 12166888 VEGFA vascular endothelial growth factor A gene DOID:11713 diabetic angiopathy ISO RGD:731072 D RGD:7240710 20190410 OMIM 12166888 VEGFA vascular endothelial growth factor A gene DOID:11713 diabetic angiopathy ISO RGD:731072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 1 PMID:11978667 12166888 VEGFA vascular endothelial growth factor A gene DOID:12236 primary biliary cholangitis ISO RGD:619991 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:26627607|REF_RGD_ID:11528851 12166888 VEGFA vascular endothelial growth factor A gene DOID:12236 primary biliary cholangitis ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:26615570|REF_RGD_ID:11538286 12166888 VEGFA vascular endothelial growth factor A gene DOID:12361 Graves' disease ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:SNPs: :-2578A>C,-460T>C,405G>C(human) PMID:22771446|REF_RGD_ID:7483621 12166888 VEGFA vascular endothelial growth factor A gene DOID:12510 retinal ischemia treatment ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:23537149|REF_RGD_ID:10755711 12166888 VEGFA vascular endothelial growth factor A gene DOID:12689 acoustic neuroma ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:14660915|REF_RGD_ID:8547959 12166888 VEGFA vascular endothelial growth factor A gene DOID:12716 newborn respiratory distress syndrome ISO RGD:731073 D RGD:9068941 20220825 MouseDO OMIM:267450 12166888 VEGFA vascular endothelial growth factor A gene DOID:13025 retinopathy of prematurity ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:subretinal fluid: PMID:10751359|REF_RGD_ID:8548546 12166888 VEGFA vascular endothelial growth factor A gene DOID:13207 proliferative diabetic retinopathy ISO RGD:619991 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; protein:increased expression:retina PMID:16054135|REF_RGD_ID:2312348 12166888 VEGFA vascular endothelial growth factor A gene DOID:13241 Behcet's disease ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15257411|REF_RGD_ID:8655578 12166888 VEGFA vascular endothelial growth factor A gene DOID:13378 Kawasaki disease ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:15470196|REF_RGD_ID:1580572 12166888 VEGFA vascular endothelial growth factor A gene DOID:13812 adhesions of uterus ISO RGD:619991 D RGD:9068941 20210514 RGD mRNA, protein:increased expression:endometrium PMID:31596310|REF_RGD_ID:126925216 12166888 VEGFA vascular endothelial growth factor A gene DOID:14256 adult-onset Still's disease ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24387171|REF_RGD_ID:8548659 12166888 VEGFA vascular endothelial growth factor A gene DOID:1432 blindness ISO RGD:731073 D RGD:9068941 20200609 RGD PMID:23093773|REF_RGD_ID:11075234 12166888 VEGFA vascular endothelial growth factor A gene DOID:14566 disease of cellular proliferation ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18494554 12166888 VEGFA vascular endothelial growth factor A gene DOID:1520 colon carcinoma treatment ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:18657413|REF_RGD_ID:15003195 12166888 VEGFA vascular endothelial growth factor A gene DOID:1584 acute chest syndrome susceptibility ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:SNPs: : rs2010963, rs833068,rs3025020(human) PMID:22925497|REF_RGD_ID:11075235 12166888 VEGFA vascular endothelial growth factor A gene DOID:1584 acute chest syndrome susceptibility ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:polymorphism:583C > T (human) PMID:25130874|REF_RGD_ID:11075233 12166888 VEGFA vascular endothelial growth factor A gene DOID:1682 congenital heart disease ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26073000 12166888 VEGFA vascular endothelial growth factor A gene DOID:1682 congenital heart disease ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:16636650|REF_RGD_ID:1580565 12166888 VEGFA vascular endothelial growth factor A gene DOID:1686 glaucoma ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:23416159|REF_RGD_ID:7421614 12166888 VEGFA vascular endothelial growth factor A gene DOID:1686 glaucoma ISO RGD:619991 D RGD:9068941 20200609 RGD protein:increased expression:retina: PMID:18728749|REF_RGD_ID:7421595 12166888 VEGFA vascular endothelial growth factor A gene DOID:1687 neovascular glaucoma ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, type 2; protein:increased expression:aqueous humor of eyeball: PMID:9852717|REF_RGD_ID:8547996 12166888 VEGFA vascular endothelial growth factor A gene DOID:1724 duodenal ulcer ISO RGD:619991 D RGD:9068941 20200609 RGD associated with Candidiasis;protein:decreased expression:Duodenum: PMID:18622701|REF_RGD_ID:7483560 12166888 VEGFA vascular endothelial growth factor A gene DOID:1727 retinal vein occlusion ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:21487926|REF_RGD_ID:5490120 12166888 VEGFA vascular endothelial growth factor A gene DOID:1727 retinal vein occlusion ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16680105 12166888 VEGFA vascular endothelial growth factor A gene DOID:1749 squamous cell carcinoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15956251|PMID:26432044 12166888 VEGFA vascular endothelial growth factor A gene DOID:1824 status epilepticus ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17533168 12166888 VEGFA vascular endothelial growth factor A gene DOID:1875 impotence ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12002441 12166888 VEGFA vascular endothelial growth factor A gene DOID:1909 melanoma disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:12946796|REF_RGD_ID:7421569 12166888 VEGFA vascular endothelial growth factor A gene DOID:1936 atherosclerosis ISO RGD:731072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atherosclerosis, susceptibility to PMID:15732116|PMID:15937083|PMID:18413368 12166888 VEGFA vascular endothelial growth factor A gene DOID:1936 atherosclerosis ameliorates ISO RGD:731073 D RGD:9068941 20230330 RGD PMID:31757932|REF_RGD_ID:242905202 12166888 VEGFA vascular endothelial growth factor A gene DOID:2048 autoimmune hepatitis ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:26615570|REF_RGD_ID:11538286 12166888 VEGFA vascular endothelial growth factor A gene DOID:219 colon cancer ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:21268133|REF_RGD_ID:5135051 12166888 VEGFA vascular endothelial growth factor A gene DOID:2256 osteochondrodysplasia ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24235232 12166888 VEGFA vascular endothelial growth factor A gene DOID:2596 larynx cancer treatment ISO RGD:731072 D RGD:9068941 20210514 RGD PMID:20967863|REF_RGD_ID:126925200 12166888 VEGFA vascular endothelial growth factor A gene DOID:2738 pseudoxanthoma elasticum susceptibility ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:haplotype: : PMID:19483196|REF_RGD_ID:7483615 12166888 VEGFA vascular endothelial growth factor A gene DOID:2773 contact dermatitis ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12166888 VEGFA vascular endothelial growth factor A gene DOID:2841 asthma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11907124|PMID:15201500|PMID:19263519 12166888 VEGFA vascular endothelial growth factor A gene DOID:2841 asthma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:19178538|REF_RGD_ID:6892723 12166888 VEGFA vascular endothelial growth factor A gene DOID:289 endometriosis ISO RGD:619991 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:20056215|REF_RGD_ID:5135061 12166888 VEGFA vascular endothelial growth factor A gene DOID:2921 glomerulonephritis treatment ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:15195119|REF_RGD_ID:7421594 12166888 VEGFA vascular endothelial growth factor A gene DOID:299 adenocarcinoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 12166888 VEGFA vascular endothelial growth factor A gene DOID:2999 granulosa cell tumor ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:19524286|REF_RGD_ID:2315463 12166888 VEGFA vascular endothelial growth factor A gene DOID:3021 acute kidney failure ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20943766|PMID:22808199 12166888 VEGFA vascular endothelial growth factor A gene DOID:3042 allergic contact dermatitis ISO RGD:619991 D RGD:9068941 20200609 RGD mRNA:protein:skin: PMID:7876550|REF_RGD_ID:7421586 12166888 VEGFA vascular endothelial growth factor A gene DOID:3042 allergic contact dermatitis ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA:protein:skin: PMID:7876550|REF_RGD_ID:7421586 12166888 VEGFA vascular endothelial growth factor A gene DOID:3068 glioblastoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16356833 12166888 VEGFA vascular endothelial growth factor A gene DOID:3071 gliosarcoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16533777 12166888 VEGFA vascular endothelial growth factor A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15681497|REF_RGD_ID:5684420 12166888 VEGFA vascular endothelial growth factor A gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:20705587|REF_RGD_ID:10755705 12166888 VEGFA vascular endothelial growth factor A gene DOID:3087 gingivitis ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;protein:decreased expression:gingiva: PMID:18206400|REF_RGD_ID:7421591 12166888 VEGFA vascular endothelial growth factor A gene DOID:3179 inverted papilloma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:inferior nasal concha: PMID:12541477|REF_RGD_ID:8551779 12166888 VEGFA vascular endothelial growth factor A gene DOID:3247 rhabdomyosarcoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16116481 12166888 VEGFA vascular endothelial growth factor A gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:16410746|REF_RGD_ID:1580568 12166888 VEGFA vascular endothelial growth factor A gene DOID:3328 temporal lobe epilepsy ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17533168 12166888 VEGFA vascular endothelial growth factor A gene DOID:3347 osteosarcoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20158913 12166888 VEGFA vascular endothelial growth factor A gene DOID:3393 coronary artery disease ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14668888|PMID:15937083 12166888 VEGFA vascular endothelial growth factor A gene DOID:3393 coronary artery disease ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:15754021|REF_RGD_ID:1580569 12166888 VEGFA vascular endothelial growth factor A gene DOID:3512 neurofibrosarcoma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:peripheral nerve PMID:10554031|REF_RGD_ID:8552377 12166888 VEGFA vascular endothelial growth factor A gene DOID:3525 middle cerebral artery infarction ISO RGD:619991 D RGD:9068941 20230504 RGD mRNA,protein:increased expression:cerebral cortex (rat) PMID:27035554|REF_RGD_ID:329337377 12166888 VEGFA vascular endothelial growth factor A gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:619991 D RGD:9068941 20210122 RGD PMID:29497380|REF_RGD_ID:40925919 12166888 VEGFA vascular endothelial growth factor A gene DOID:3587 pancreatic ductal carcinoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17481528 12166888 VEGFA vascular endothelial growth factor A gene DOID:3827 congenital diaphragmatic hernia ISO RGD:619991 D RGD:9068941 20200609 RGD protein:decreased expression:lung: PMID:15879288|REF_RGD_ID:7421593 12166888 VEGFA vascular endothelial growth factor A gene DOID:3908 lung non-small cell carcinoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15956251 12166888 VEGFA vascular endothelial growth factor A gene DOID:3908 lung non-small cell carcinoma ISO RGD:731072 D RGD:9068941 20210514 RGD protein:increased expression:plasma PMID:21481963|REF_RGD_ID:126925199 12166888 VEGFA vascular endothelial growth factor A gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731072 D RGD:9068941 20220428 RGD protein:inctreased expression:lung (human) PMID:22977534|REF_RGD_ID:152023747 12166888 VEGFA vascular endothelial growth factor A gene DOID:418 systemic scleroderma ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:skin: PMID:21636803|REF_RGD_ID:7421579 12166888 VEGFA vascular endothelial growth factor A gene DOID:418 systemic scleroderma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow: PMID:22271757|REF_RGD_ID:8551843 12166888 VEGFA vascular endothelial growth factor A gene DOID:418 systemic scleroderma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24387171|REF_RGD_ID:8548659 12166888 VEGFA vascular endothelial growth factor A gene DOID:418 systemic scleroderma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:16426919|REF_RGD_ID:5684416 12166888 VEGFA vascular endothelial growth factor A gene DOID:4440 seminoma disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:19288744|REF_RGD_ID:2315467 12166888 VEGFA vascular endothelial growth factor A gene DOID:4448 macular degeneration ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15788408 12166888 VEGFA vascular endothelial growth factor A gene DOID:4449 macular retinal edema ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20577866 12166888 VEGFA vascular endothelial growth factor A gene DOID:4449 macular retinal edema ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;protein:increased expression:aqueous humor PMID:17505145|REF_RGD_ID:8655594 12166888 VEGFA vascular endothelial growth factor A gene DOID:4449 macular retinal edema ISO RGD:731072 D RGD:9068941 20200609 RGD associated with retinal vein occlusion;protein:increased expression:vitreous humor PMID:23411880|REF_RGD_ID:8549772 12166888 VEGFA vascular endothelial growth factor A gene DOID:4449 macular retinal edema ISO RGD:731072 D RGD:9068941 20221014 RGD associated with central retinal vein occlusion;protein:increased expression:aqueous humor of eyeball (human) PMID:35799735|REF_RGD_ID:155582223 12166888 VEGFA vascular endothelial growth factor A gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:19755989|REF_RGD_ID:2315455 12166888 VEGFA vascular endothelial growth factor A gene DOID:4467 clear cell renal cell carcinoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25239121 12166888 VEGFA vascular endothelial growth factor A gene DOID:4483 rhinitis ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:19178538|REF_RGD_ID:6892723 12166888 VEGFA vascular endothelial growth factor A gene DOID:4724 brain edema ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:15879344|REF_RGD_ID:1580557 12166888 VEGFA vascular endothelial growth factor A gene DOID:4724 brain edema ISO RGD:619991 D RGD:9068941 20200609 RGD associated with Anoxia PMID:21560328|REF_RGD_ID:5148033 12166888 VEGFA vascular endothelial growth factor A gene DOID:5082 liver cirrhosis ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11981751 12166888 VEGFA vascular endothelial growth factor A gene DOID:5082 liver cirrhosis ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic; protein:increased expression:liver PMID:26627607|REF_RGD_ID:11528851 12166888 VEGFA vascular endothelial growth factor A gene DOID:5082 liver cirrhosis ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:platelet: PMID:18544126|REF_RGD_ID:15003200 12166888 VEGFA vascular endothelial growth factor A gene DOID:5176 renal Wilms' tumor ISO RGD:731072 D RGD:9068941 20221103 RGD human tumor in mouse model PMID:18467665|REF_RGD_ID:155631277 12166888 VEGFA vascular endothelial growth factor A gene DOID:5425 ovarian hyperstimulation syndrome treatment ISO RGD:619991 D RGD:9068941 20210514 RGD PMID:25151950|REF_RGD_ID:126925217 12166888 VEGFA vascular endothelial growth factor A gene DOID:5679 retinal disease ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19324842 12166888 VEGFA vascular endothelial growth factor A gene DOID:576 proteinuria ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22808199 12166888 VEGFA vascular endothelial growth factor A gene DOID:5844 myocardial infarction ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:serum,platelet: PMID:10652191|REF_RGD_ID:7483604 12166888 VEGFA vascular endothelial growth factor A gene DOID:5844 myocardial infarction treatment ISO RGD:619991 D RGD:9068941 20210514 RGD PMID:25936512|REF_RGD_ID:126925214 12166888 VEGFA vascular endothelial growth factor A gene DOID:6000 congestive heart failure ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15732037|PMID:15880336 12166888 VEGFA vascular endothelial growth factor A gene DOID:6039 uveal melanoma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:iris, ciliary body, vitreous body; PMID:11914216|REF_RGD_ID:7483591 12166888 VEGFA vascular endothelial growth factor A gene DOID:630 genetic disease ISO RGD:731072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166888 VEGFA vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma ISO RGD:731072 D RGD:9068941 20200609 RGD associated with liver cirrhosis; protein:increased expression:platelet, liver: PMID:18544126|REF_RGD_ID:15003200 12166888 VEGFA vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:27338800|REF_RGD_ID:15003194 12166888 VEGFA vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:28147320|REF_RGD_ID:15003196 12166888 VEGFA vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:16835748|REF_RGD_ID:15014783 12166888 VEGFA vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:731072 D RGD:9068941 20210507 RGD DNA:SNP: :2578C>A (human) PMID:24445728|REF_RGD_ID:126848814 12166888 VEGFA vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma treatment ISO RGD:619991 D RGD:9068941 20220520 RGD PMID:25999787|REF_RGD_ID:152177911 12166888 VEGFA vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:26930285|REF_RGD_ID:11527070 12166888 VEGFA vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-2578C>A (rs699947)(human) PMID:28147320|REF_RGD_ID:15003196 12166888 VEGFA vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731073 D RGD:9068941 20200609 RGD associated with liver cirrhosis; PMID:18392108|REF_RGD_ID:15036790 12166888 VEGFA vascular endothelial growth factor A gene DOID:7148 rheumatoid arthritis ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16368150 12166888 VEGFA vascular endothelial growth factor A gene DOID:7148 rheumatoid arthritis disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24387171|REF_RGD_ID:8548659 12166888 VEGFA vascular endothelial growth factor A gene DOID:7736 retinal telangiectasia severity ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:eye: PMID:23221067|REF_RGD_ID:8549759 12166888 VEGFA vascular endothelial growth factor A gene DOID:841 extrinsic allergic alveolitis ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:15764076|REF_RGD_ID:5684419 12166888 VEGFA vascular endothelial growth factor A gene DOID:850 lung disease ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23618901 12166888 VEGFA vascular endothelial growth factor A gene DOID:8505 dermatitis herpetiformis ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:7738351|REF_RGD_ID:7421578 12166888 VEGFA vascular endothelial growth factor A gene DOID:8506 bullous pemphigoid ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:7738351|REF_RGD_ID:7421578 12166888 VEGFA vascular endothelial growth factor A gene DOID:8544 chronic fatigue syndrome ISO RGD:731072 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:26615570|REF_RGD_ID:11538286 12166888 VEGFA vascular endothelial growth factor A gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :(rs6999470),(rs833061)(human) PMID:19141860|REF_RGD_ID:13432135 12166888 VEGFA vascular endothelial growth factor A gene DOID:8577 ulcerative colitis ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:colon, plasma PMID:19013462|REF_RGD_ID:5684406 12166888 VEGFA vascular endothelial growth factor A gene DOID:869 cholesteatoma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:external acoustic meatus: PMID:15267172|REF_RGD_ID:8547969 12166888 VEGFA vascular endothelial growth factor A gene DOID:8692 myeloid leukemia ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21535412 12166888 VEGFA vascular endothelial growth factor A gene DOID:8717 decubitus ulcer ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:23740668|REF_RGD_ID:8655548 12166888 VEGFA vascular endothelial growth factor A gene DOID:8717 decubitus ulcer ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:12692851|REF_RGD_ID:8551845 12166888 VEGFA vascular endothelial growth factor A gene DOID:8778 Crohn's disease ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:colon, plasma PMID:19013462|REF_RGD_ID:5684406 12166888 VEGFA vascular endothelial growth factor A gene DOID:8893 psoriasis ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16385345 12166888 VEGFA vascular endothelial growth factor A gene DOID:8893 psoriasis ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA:increased expression:skin: PMID:8064230|REF_RGD_ID:7421592 12166888 VEGFA vascular endothelial growth factor A gene DOID:8893 psoriasis ISO RGD:731073 D RGD:9068941 20220825 MouseDO OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106 12166888 VEGFA vascular endothelial growth factor A gene DOID:8893 psoriasis disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:20980160|REF_RGD_ID:8552359 12166888 VEGFA vascular endothelial growth factor A gene DOID:8893 psoriasis onset ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:polymorphism: :405C>G(human) PMID:14962110|REF_RGD_ID:8552645 12166888 VEGFA vascular endothelial growth factor A gene DOID:8893 psoriasis treatment ISO RGD:731073 D RGD:9068941 20200609 RGD PMID:19995970|REF_RGD_ID:8549646 12166888 VEGFA vascular endothelial growth factor A gene DOID:8927 learning disability ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20801723 12166888 VEGFA vascular endothelial growth factor A gene DOID:8947 diabetic retinopathy ISO RGD:619991 D RGD:9068941 20210219 RGD mRNA, protein:increased expression:retina PMID:31759996|REF_RGD_ID:41410819 12166888 VEGFA vascular endothelial growth factor A gene DOID:8947 diabetic retinopathy ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11978667|PMID:15788408|PMID:20577866 12166888 VEGFA vascular endothelial growth factor A gene DOID:8947 diabetic retinopathy ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:16636650|PMID:17513698|REF_RGD_ID:1580565|REF_RGD_ID:2301992 12166888 VEGFA vascular endothelial growth factor A gene DOID:8947 diabetic retinopathy ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, type 2; protein:increased expression:aqueous humor of eyeball: PMID:9852717|REF_RGD_ID:8547996 12166888 VEGFA vascular endothelial growth factor A gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19723043|REF_RGD_ID:2315456 12166888 VEGFA vascular endothelial growth factor A gene DOID:900 hepatopulmonary syndrome ISO RGD:619991 D RGD:9068941 20200609 RGD mRNA:increased expression:lung: PMID:27029414|REF_RGD_ID:15003201 12166888 VEGFA vascular endothelial growth factor A gene DOID:900 hepatopulmonary syndrome treatment ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:19109954|REF_RGD_ID:15036789 12166888 VEGFA vascular endothelial growth factor A gene DOID:9000039 Spinal Cord Injuries ISO RGD:619991 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:21092735|REF_RGD_ID:5148013 12166888 VEGFA vascular endothelial growth factor A gene DOID:9000039 Spinal Cord Injuries ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21092735 12166888 VEGFA vascular endothelial growth factor A gene DOID:9000081 Lymphatic Metastasis ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms PMID:19783962|REF_RGD_ID:2315454 12166888 VEGFA vascular endothelial growth factor A gene DOID:9000081 Lymphatic Metastasis ISO RGD:731073 D RGD:9068941 20200609 RGD associated with Breast neoplasms; PMID:17597103|REF_RGD_ID:7421574 12166888 VEGFA vascular endothelial growth factor A gene DOID:9000099 Experimental Colitis ISO RGD:731073 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:19013462|REF_RGD_ID:5684406 12166888 VEGFA vascular endothelial growth factor A gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22808199 12166888 VEGFA vascular endothelial growth factor A gene DOID:9000528 Coronary Disease ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ventricle myocardium PMID:16139132|REF_RGD_ID:2313728 12166888 VEGFA vascular endothelial growth factor A gene DOID:9000808 Hypercholesterolemia ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Carcinoma, Ductal, Breast PMID:15491965|REF_RGD_ID:8655598 12166888 VEGFA vascular endothelial growth factor A gene DOID:9000888 Pregnancy in Diabetics ISO RGD:619991 D RGD:9068941 20200609 RGD protein:decreased expression:plasma, placenta,embryo: PMID:19048427|REF_RGD_ID:7483562 12166888 VEGFA vascular endothelial growth factor A gene DOID:9000965 Neoplasm Metastasis ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15659795|PMID:18930813|PMID:20158913 12166888 VEGFA vascular endothelial growth factor A gene DOID:9000965 Neoplasm Metastasis ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell PMID:19064974|REF_RGD_ID:2315468 12166888 VEGFA vascular endothelial growth factor A gene DOID:9000998 Brain Injuries ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:12230324|REF_RGD_ID:1580574 12166888 VEGFA vascular endothelial growth factor A gene DOID:9000998 Brain Injuries ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18065154 12166888 VEGFA vascular endothelial growth factor A gene DOID:9001044 Choroidal Neovascularization ISO RGD:619991 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:choroidal tissue,retina: PMID:19013152|REF_RGD_ID:8548599 12166888 VEGFA vascular endothelial growth factor A gene DOID:9001044 Choroidal Neovascularization ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16680105 12166888 VEGFA vascular endothelial growth factor A gene DOID:9001044 Choroidal Neovascularization ISO RGD:731073 D RGD:9068941 20200609 RGD PMID:16723717|REF_RGD_ID:8548459 12166888 VEGFA vascular endothelial growth factor A gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:20237252|REF_RGD_ID:7483614 12166888 VEGFA vascular endothelial growth factor A gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:24959006|REF_RGD_ID:15014784 12166888 VEGFA vascular endothelial growth factor A gene DOID:9001472 Nasal Polyps ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:Turbinates: PMID:12761968|REF_RGD_ID:7394830 12166888 VEGFA vascular endothelial growth factor A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18416461|PMID:18458672 12166888 VEGFA vascular endothelial growth factor A gene DOID:9001600 Wounds and Injuries treatment ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:23603001|REF_RGD_ID:8655580 12166888 VEGFA vascular endothelial growth factor A gene DOID:9001725 Retina Reperfusion Injury ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:17591953|REF_RGD_ID:7421609 12166888 VEGFA vascular endothelial growth factor A gene DOID:9002159 Liver Reperfusion Injury ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:26451003|REF_RGD_ID:15036791 12166888 VEGFA vascular endothelial growth factor A gene DOID:9002165 Diabetic Nephropathies ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18630688 12166888 VEGFA vascular endothelial growth factor A gene DOID:9002165 Diabetic Nephropathies ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:urine PMID:15610240|REF_RGD_ID:2313731 12166888 VEGFA vascular endothelial growth factor A gene DOID:9002170 Experimental Neoplasms ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20376344|PMID:20932960|PMID:28574600 12166888 VEGFA vascular endothelial growth factor A gene DOID:9002221 Hyperplasia ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Breast Diseases;protein:increased expression:breast PMID:19623180|REF_RGD_ID:2315458 12166888 VEGFA vascular endothelial growth factor A gene DOID:9002304 Prostatic Neoplasms ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12893367|PMID:16606632|PMID:16908180|PMID:20052738 12166888 VEGFA vascular endothelial growth factor A gene DOID:9002457 Experimental Arthritis ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26221077|PMID:9598899 12166888 VEGFA vascular endothelial growth factor A gene DOID:9002539 Glomus Tympanicum Tumor ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:20030694|REF_RGD_ID:8547978 12166888 VEGFA vascular endothelial growth factor A gene DOID:9002661 Diabetes Complications ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26073000 12166888 VEGFA vascular endothelial growth factor A gene DOID:9002676 Cerebral Hemorrhage ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17888890 12166888 VEGFA vascular endothelial growth factor A gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:polymorphisms: :405G>C, -460C>T (human) PMID:19509553|REF_RGD_ID:2315464 12166888 VEGFA vascular endothelial growth factor A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:12387457|REF_RGD_ID:634258 12166888 VEGFA vascular endothelial growth factor A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:619991 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:spinal cord: PMID:17083617|REF_RGD_ID:7421596 12166888 VEGFA vascular endothelial growth factor A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA:decreased expression:Cerebrospinal Fluid: PMID:17083617|REF_RGD_ID:7421596 12166888 VEGFA vascular endothelial growth factor A gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:619991 D RGD:9068941 20200609 RGD mRNA:increased expression:retina: PMID:15303088|REF_RGD_ID:7483624 12166888 VEGFA vascular endothelial growth factor A gene DOID:9002928 Colonic Neoplasms ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18987561 12166888 VEGFA vascular endothelial growth factor A gene DOID:9002928 Colonic Neoplasms ISO RGD:731073 D RGD:9068941 20200609 RGD associated with Colitis PMID:21098094|REF_RGD_ID:5684533 12166888 VEGFA vascular endothelial growth factor A gene DOID:9002955 Nerve Degeneration treatment ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:26201024|REF_RGD_ID:11079183 12166888 VEGFA vascular endothelial growth factor A gene DOID:9003204 Neovascularization, Pathologic ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12399228|PMID:17533168 12166888 VEGFA vascular endothelial growth factor A gene DOID:9003219 Invasive Pulmonary Aspergillosis treatment ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:23303813|REF_RGD_ID:8655596 12166888 VEGFA vascular endothelial growth factor A gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 12166888 VEGFA vascular endothelial growth factor A gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19723043|REF_RGD_ID:2315456 12166888 VEGFA vascular endothelial growth factor A gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:19783962|REF_RGD_ID:2315454 12166888 VEGFA vascular endothelial growth factor A gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23694759 12166888 VEGFA vascular endothelial growth factor A gene DOID:9004210 Tympanic Membrane Perforation ISO RGD:619991 D RGD:9068941 20200609 RGD mRNA:increased expression:tympanic membrane: PMID:24012216|REF_RGD_ID:8547981 12166888 VEGFA vascular endothelial growth factor A gene DOID:9004210 Tympanic Membrane Perforation disease_progression ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:20015768|REF_RGD_ID:8655595 12166888 VEGFA vascular endothelial growth factor A gene DOID:9004464 Skin Neoplasms ISO RGD:731073 D RGD:9068941 20200609 RGD PMID:15150105|REF_RGD_ID:7421589 12166888 VEGFA vascular endothelial growth factor A gene DOID:9004610 Acute Lung Injury ISO RGD:619991 D RGD:9068941 20200609 RGD associated with Endotoxemia;mRNA, protein:altered expression:lung, plasma PMID:21528367|REF_RGD_ID:5684427 12166888 VEGFA vascular endothelial growth factor A gene DOID:9004643 Urologic Neoplasms ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23009795 12166888 VEGFA vascular endothelial growth factor A gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20158913 12166888 VEGFA vascular endothelial growth factor A gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:731072 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:21890879|REF_RGD_ID:6771361 12166888 VEGFA vascular endothelial growth factor A gene DOID:9005372 Inflammation ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19324842 12166888 VEGFA vascular endothelial growth factor A gene DOID:9005605 Arteriovenous Fistula ISO RGD:619991 D RGD:9068941 20200609 RGD protein:increased expression:brain cortex, brain dura mater: PMID:24626343|REF_RGD_ID:8551823 12166888 VEGFA vascular endothelial growth factor A gene DOID:9005605 Arteriovenous Fistula ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:10541235|REF_RGD_ID:8655590 12166888 VEGFA vascular endothelial growth factor A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:19934008|REF_RGD_ID:7421582 12166888 VEGFA vascular endothelial growth factor A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619991 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:16741021|REF_RGD_ID:2313724 12166888 VEGFA vascular endothelial growth factor A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22191573 12166888 VEGFA vascular endothelial growth factor A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731073 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:16816123|REF_RGD_ID:2313725 12166888 VEGFA vascular endothelial growth factor A gene DOID:9005858 Periodontal Atrophy ISO RGD:619991 D RGD:9068941 20200609 RGD protein:decreased expression:maxilla: PMID:22716278|REF_RGD_ID:7421608 12166888 VEGFA vascular endothelial growth factor A gene DOID:9005873 Tongue Neoplasms disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:15289890|REF_RGD_ID:7488946 12166888 VEGFA vascular endothelial growth factor A gene DOID:9006169 Head and Neck Neoplasms ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16499871 12166888 VEGFA vascular endothelial growth factor A gene DOID:9006618 Liver Metastasis ISO RGD:731072 D RGD:9068941 20200609 RGD associated with colorectal carcinoma;mRNA,protein:increased expression:liver: PMID:22156924|REF_RGD_ID:15014782 12166888 VEGFA vascular endothelial growth factor A gene DOID:9006646 Metabolic Syndrome ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:22206010|REF_RGD_ID:7483588 12166888 VEGFA vascular endothelial growth factor A gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731072 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068094 12166888 VEGFA vascular endothelial growth factor A gene DOID:9007 sudden infant death syndrome ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:12563064|REF_RGD_ID:634255 12166888 VEGFA vascular endothelial growth factor A gene DOID:9007096 Stroke ISO RGD:619991 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:11585245|REF_RGD_ID:7421577 12166888 VEGFA vascular endothelial growth factor A gene DOID:9007102 Myocardial Ischemia ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14503966|PMID:14583313|PMID:15347709|PMID:16214533|PMID:9860779 12166888 VEGFA vascular endothelial growth factor A gene DOID:9007334 Small-For-Size Syndrome treatment ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:22151301|REF_RGD_ID:10053671 12166888 VEGFA vascular endothelial growth factor A gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12166888 VEGFA vascular endothelial growth factor A gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:17784864|REF_RGD_ID:15003197 12166888 VEGFA vascular endothelial growth factor A gene DOID:9007502 Brain Neoplasms ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 12166888 VEGFA vascular endothelial growth factor A gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:731072 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:30090327 12166888 VEGFA vascular endothelial growth factor A gene DOID:9007651 Chronic Bronchitis ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19263519 12166888 VEGFA vascular endothelial growth factor A gene DOID:9007715 Endometrial Neoplasms ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17380299 12166888 VEGFA vascular endothelial growth factor A gene DOID:9007748 Retinal Neovascularization ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:12900522|REF_RGD_ID:1580564 12166888 VEGFA vascular endothelial growth factor A gene DOID:9007748 Retinal Neovascularization ISO RGD:619991 D RGD:9068941 20200609 RGD associated with hypoxia;mRNA:increased expression:retina: PMID:8859080|REF_RGD_ID:7483620 12166888 VEGFA vascular endothelial growth factor A gene DOID:9007748 Retinal Neovascularization ISO RGD:731073 D RGD:9068941 20200609 RGD PMID:23324288|REF_RGD_ID:8548102 12166888 VEGFA vascular endothelial growth factor A gene DOID:9007748 Retinal Neovascularization ISO RGD:731073 D RGD:9068941 20200609 RGD associated with hypoxia;mRNA,protein:increased expression:retina: PMID:7846076|REF_RGD_ID:8547994 12166888 VEGFA vascular endothelial growth factor A gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12166888 VEGFA vascular endothelial growth factor A gene DOID:9007874 Liver Failure ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16757304 12166888 VEGFA vascular endothelial growth factor A gene DOID:9008023 Memory Disorders ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20801723 12166888 VEGFA vascular endothelial growth factor A gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:nasal biopsies,nasal lavage fluid: PMID:12633568|REF_RGD_ID:7483595 12166888 VEGFA vascular endothelial growth factor A gene DOID:9008217 Hemorrhage ISO RGD:731072 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068094 12166888 VEGFA vascular endothelial growth factor A gene DOID:9008537 Polypoidal Choroidal Vasculopathy susceptibility ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :rs833069(human) PMID:22307775|REF_RGD_ID:7483605 12166888 VEGFA vascular endothelial growth factor A gene DOID:9008660 Infantile Capillary Hemangioma disease_progression ISO RGD:731072 D RGD:9068941 20221117 RGD PMID:26957058|REF_RGD_ID:155663370 12166888 VEGFA vascular endothelial growth factor A gene DOID:9008821 Otitis Media with Effusion ISO RGD:619991 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear: PMID:22907120|REF_RGD_ID:8547964 12166888 VEGFA vascular endothelial growth factor A gene DOID:9008939 Breast Neoplasms ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:19567820|REF_RGD_ID:2315461 12166888 VEGFA vascular endothelial growth factor A gene DOID:9008939 Breast Neoplasms ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:19722158|REF_RGD_ID:2315457 12166888 VEGFA vascular endothelial growth factor A gene DOID:905 Zellweger syndrome ISO RGD:731072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12166888 VEGFA vascular endothelial growth factor A gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :(rs3025039),(rs699947),(rs833061)(human) PMID:17983459|REF_RGD_ID:13432134 12166888 VEGFA vascular endothelial growth factor A gene DOID:9256 colorectal cancer ISO RGD:731072 D RGD:9068941 20220609 RGD mRNA:increased expression:colorectum (human) PMID:21839130|REF_RGD_ID:152985531 12166888 VEGFA vascular endothelial growth factor A gene DOID:9256 colorectal cancer ameliorates ISO RGD:731072 D RGD:9068941 20220421 RGD human cells in mouse model PMID:30789971|REF_RGD_ID:151893289 12166888 VEGFA vascular endothelial growth factor A gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:731072 D RGD:9068941 20210514 RGD PMID:16480593|REF_RGD_ID:126925191 12166888 VEGFA vascular endothelial growth factor A gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:731072 D RGD:9068941 20220811 RGD protein:increased expression:nasopharynx (human) PMID:23631129|REF_RGD_ID:153305949 12166888 VEGFA vascular endothelial growth factor A gene DOID:9261 nasopharynx carcinoma severity ISO RGD:731072 D RGD:9068941 20210716 RGD protein:increased expression:mucosa of nasopharynx (human) PMID:30123088|REF_RGD_ID:149735327 12166888 VEGFA vascular endothelial growth factor A gene DOID:9352 type 2 diabetes mellitus ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ventricle myocardium PMID:16139132|REF_RGD_ID:2313728 12166888 VEGFA vascular endothelial growth factor A gene DOID:9538 multiple myeloma susceptibility ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:SNPs,haplotypes: :rs699947,rs1570360, rs2010963(human) PMID:24687381|REF_RGD_ID:11079182 12166888 VEGFA vascular endothelial growth factor A gene DOID:9743 diabetic neuropathy treatment ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:26201024|REF_RGD_ID:11079183 12166888 VEGFA vascular endothelial growth factor A gene DOID:9810 polyarteritis nodosa ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:15965421|REF_RGD_ID:8655581 12166903 SLMAP sarcolemma associated protein gene DOID:0050451 Brugada syndrome ISO RGD:1317000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9536098 12166903 SLMAP sarcolemma associated protein gene DOID:0050451 Brugada syndrome ISO RGD:1317000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:28492532|PMID:30847666|PMID:9536098 12166903 SLMAP sarcolemma associated protein gene DOID:0060319 cardiac arrest ISO RGD:1317000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest 12166903 SLMAP sarcolemma associated protein gene DOID:13938 amenorrhea ISO RGD:1317000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12166903 SLMAP sarcolemma associated protein gene DOID:630 genetic disease ISO RGD:1317000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12166903 SLMAP sarcolemma associated protein gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1317000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 12166951 MLXIP MLX interacting protein gene DOID:630 genetic disease ISO RGD:1602332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12166974 FNBP1L formin binding protein 1 like gene DOID:630 genetic disease ISO RGD:1346897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167001 CEP350 centrosomal protein 350 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1605105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12167001 CEP350 centrosomal protein 350 gene DOID:1540 parathyroid carcinoma ISO RGD:1605105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12167001 CEP350 centrosomal protein 350 gene DOID:630 genetic disease ISO RGD:1605105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167001 CEP350 centrosomal protein 350 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12167001 CEP350 centrosomal protein 350 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12167046 WDR26 WD repeat domain 26 gene DOID:1059 intellectual disability ISO RGD:1348746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12167046 WDR26 WD repeat domain 26 gene DOID:1540 parathyroid carcinoma ISO RGD:1348746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12167046 WDR26 WD repeat domain 26 gene DOID:1826 epilepsy ISO RGD:1348746 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12167046 WDR26 WD repeat domain 26 gene DOID:2843 long QT syndrome ISO RGD:1348746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12167046 WDR26 WD repeat domain 26 gene DOID:630 genetic disease ISO RGD:1348746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28518168|PMID:32461654 12167046 WDR26 WD repeat domain 26 gene DOID:9006821 Skraban-Deardorff Syndrome ISO RGD:1348746 D RGD:7240710 20190315 OMIM 12167046 WDR26 WD repeat domain 26 gene DOID:9006821 Skraban-Deardorff Syndrome ISO RGD:1348746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Skraban-Deardorff syndrome PMID:25741868|PMID:25741869|PMID:28492532|PMID:28686853|PMID:36269129 12167046 WDR26 WD repeat domain 26 gene DOID:9008582 Developmental Disease ISO RGD:1348746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12167046 WDR26 WD repeat domain 26 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12167065 LVRN laeverin gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604505 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12167065 LVRN laeverin gene DOID:12849 autistic disorder ISO RGD:1604505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12167065 LVRN laeverin gene DOID:630 genetic disease ISO RGD:1604505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167065 LVRN laeverin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12167065 LVRN laeverin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604505 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12167089 CASQ2 calsequestrin 2 gene DOID:0050700 cardiomyopathy ISO RGD:737298 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12034872|PMID:17881003|PMID:18543230|PMID:19709828|PMID:20530761|PMID:21063088|PMID:21454795|PMID:22421959|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26671417|PMID:27930701|PMID:28074886|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:30847666|PMID:32693635|PMID:33093545|PMID:35932045|PMID:36291626 12167089 CASQ2 calsequestrin 2 gene DOID:0060224 atrial fibrillation ISO RGD:737298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12167089 CASQ2 calsequestrin 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:737298 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16601229|PMID:16908766|PMID:17576681|PMID:17881003|PMID:18469084|PMID:18543230|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20353949|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:23286974|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26230511|PMID:26671417|PMID:27114410|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29255176|PMID:29544605|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30775854|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:9536098 12167089 CASQ2 calsequestrin 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:737298 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:17576681|PMID:17881003|PMID:18543230|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:24679846|PMID:25163546|PMID:25351510|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26671417|PMID:27114410|PMID:27157848|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28158428|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29255176|PMID:29544605|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30775854|PMID:30847666|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:33093545|PMID:35932045|PMID:36291626|PMID:9536098 12167089 CASQ2 calsequestrin 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:737298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16601229|PMID:16908766|PMID:17576681|PMID:17881003|PMID:18469084|PMID:18543230|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20353949|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23595086|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:24679846|PMID:25163546|PMID:25351510|PMID:25640679|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26230511|PMID:26671417|PMID:27114410|PMID:27157848|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29255176|PMID:29544605|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30729048|PMID:30775854|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:9536098 12167089 CASQ2 calsequestrin 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:737298 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16601229|PMID:16908766|PMID:17576681|PMID:17881003|PMID:18469084|PMID:18543230|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20353949|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23595086|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:24679846|PMID:25163546|PMID:25351510|PMID:25640679|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26230511|PMID:26671417|PMID:27114410|PMID:27157848|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28158428|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29255176|PMID:29544605|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30729048|PMID:30775854|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:33093545|PMID:35932045|PMID:36291626|PMID:9536098 12167089 CASQ2 calsequestrin 2 gene DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 ISO RGD:737298 D RGD:7240710 20180130 OMIM 12167089 CASQ2 calsequestrin 2 gene DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 ISO RGD:737298 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 PMID:11704930|PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16908766|PMID:17881003|PMID:18543230|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:23286974|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26196381|PMID:26671417|PMID:27157848|PMID:27930701|PMID:28074886|PMID:28158428|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29255176|PMID:29544605|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30775854|PMID:30847666|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:33093545|PMID:35932045|PMID:36291626 12167089 CASQ2 calsequestrin 2 gene DOID:0080074 neural tube defect ISO RGD:737298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:24033266|PMID:25741868|PMID:26196381|PMID:28492532 12167089 CASQ2 calsequestrin 2 gene DOID:0080690 RASopathy ISO RGD:737298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12167089 CASQ2 calsequestrin 2 gene DOID:0080700 caudal regression syndrome ISO RGD:737298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Caudal regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele PMID:24033266|PMID:25741868|PMID:26196381|PMID:28492532 12167089 CASQ2 calsequestrin 2 gene DOID:0111073 progressive familial heart block ISO RGD:737298 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Progressive familial heart block PMID:23861362|PMID:25741868|PMID:28404607|PMID:28492532|PMID:30615648 12167089 CASQ2 calsequestrin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:737298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:20530761|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532 12167089 CASQ2 calsequestrin 2 gene DOID:1929 supravalvular aortic stenosis onset ISO RGD:2276 D RGD:9068941 20200609 RGD mRNA:decreased expression:left ventricle myocardium PMID:1531837|REF_RGD_ID:6771235 12167089 CASQ2 calsequestrin 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:737298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 12167089 CASQ2 calsequestrin 2 gene DOID:6000 congestive heart failure ISO RGD:2276 D RGD:9068941 20200609 RGD mRNA:increased expression:sinoatrial node PMID:21565973|REF_RGD_ID:6771208 12167089 CASQ2 calsequestrin 2 gene DOID:630 genetic disease ISO RGD:737298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167089 CASQ2 calsequestrin 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:737298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:20530761|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12167089 CASQ2 calsequestrin 2 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:737298 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:25741868|PMID:27114410|PMID:28492532 12167089 CASQ2 calsequestrin 2 gene DOID:9003163 Heart Block ISO RGD:737298 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868|PMID:27114410|PMID:28492532 12167089 CASQ2 calsequestrin 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:737298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18052993 12167089 CASQ2 calsequestrin 2 gene DOID:9005141 Ventricular Tachycardia susceptibility ISO RGD:737298 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.D307H (human) PMID:11704930|REF_RGD_ID:734697 12167089 CASQ2 calsequestrin 2 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:2276 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21441944|REF_RGD_ID:6771209 12167089 CASQ2 calsequestrin 2 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:737298 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:17576681|PMID:17881003|PMID:18543230|PMID:18684293|PMID:19709828|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:23286974|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26671417|PMID:27114410|PMID:27538377|PMID:27930701|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29255176|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30775854|PMID:30847666|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:9536098 12167089 CASQ2 calsequestrin 2 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:737298 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Polymorphic ventricular tachycardia PMID:12034872|PMID:14571276|PMID:18543230|PMID:19709828|PMID:21063088|PMID:21076409|PMID:21454795|PMID:22421959|PMID:23861362|PMID:24025405|PMID:24033266|PMID:25651173|PMID:25741868|PMID:26671417|PMID:28492532 12167089 CASQ2 calsequestrin 2 gene DOID:9007820 Sudden Death ISO RGD:737298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:12034872|PMID:18543230|PMID:21063088|PMID:21454795|PMID:22421959|PMID:24025405|PMID:24033266|PMID:25651173|PMID:25741868|PMID:26671417|PMID:28492532 12167111 WDR74 WD repeat domain 74 gene DOID:0080600 COVID-19 ISO RGD:1603395 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12167111 WDR74 WD repeat domain 74 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12167111 WDR74 WD repeat domain 74 gene DOID:1059 intellectual disability ISO RGD:1603395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12167111 WDR74 WD repeat domain 74 gene DOID:14566 disease of cellular proliferation ISO RGD:1603395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25261935 12167111 WDR74 WD repeat domain 74 gene DOID:1909 melanoma ISO RGD:1603395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12167111 WDR74 WD repeat domain 74 gene DOID:630 genetic disease ISO RGD:1603395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167130 CSRNP2 cysteine and serine rich nuclear protein 2 gene DOID:630 genetic disease ISO RGD:1318958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167151 SNTG1 syntrophin gamma 1 gene DOID:630 genetic disease ISO RGD:1347731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167193 BNIP2 BCL2 interacting protein 2 gene DOID:2717 Bloom syndrome ISO RGD:1319009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12167193 BNIP2 BCL2 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1319009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167193 BNIP2 BCL2 interacting protein 2 gene DOID:9256 colorectal cancer ISO RGD:1319009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12167208 KCNJ15 potassium inwardly rectifying channel subfamily J member 15 gene DOID:1826 epilepsy ISO RGD:731050 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12167208 KCNJ15 potassium inwardly rectifying channel subfamily J member 15 gene DOID:630 genetic disease ISO RGD:731050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167208 KCNJ15 potassium inwardly rectifying channel subfamily J member 15 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:731050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12167242 ERG ETS transcription factor ERG gene DOID:1240 leukemia ISO RGD:1348469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19108891 12167242 ERG ETS transcription factor ERG gene DOID:1826 epilepsy ISO RGD:1348469 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12167242 ERG ETS transcription factor ERG gene DOID:5453 pulmonary venoocclusive disease ISO RGD:1348469 D RGD:9068941 20200903 RGD protein:decreased expression:lung PMID:32209028|REF_RGD_ID:38549370 12167242 ERG ETS transcription factor ERG gene DOID:5453 pulmonary venoocclusive disease ISO RGD:621108 D RGD:9068941 20200903 RGD protein:decreased expression:lung PMID:32209028|REF_RGD_ID:38549370 12167242 ERG ETS transcription factor ERG gene DOID:630 genetic disease ISO RGD:1348469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167242 ERG ETS transcription factor ERG gene DOID:8398 osteoarthritis ISO RGD:1550130 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 12167242 ERG ETS transcription factor ERG gene DOID:8692 myeloid leukemia ISO RGD:1348469 D RGD:9068941 20200609 RGD PMID:23719302|REF_RGD_ID:10450751 12167242 ERG ETS transcription factor ERG gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17173048|PMID:18798265|PMID:19396168|PMID:25735316|PMID:27223260|PMID:27783944|PMID:28783165 12167242 ERG ETS transcription factor ERG gene DOID:9008192 Neoplastic Processes ISO RGD:1348469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27783944 12167242 ERG ETS transcription factor ERG gene DOID:9119 acute myeloid leukemia ISO RGD:1348469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19822134 12167242 ERG ETS transcription factor ERG gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1348469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27776115 12167256 TAPT1 transmembrane anterior posterior transformation 1 gene DOID:0050777 Joubert syndrome ISO RGD:1605561 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12167256 TAPT1 transmembrane anterior posterior transformation 1 gene DOID:630 genetic disease ISO RGD:1605561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12167256 TAPT1 transmembrane anterior posterior transformation 1 gene DOID:9000260 OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE ISO RGD:1605561 D RGD:7240710 20190315 OMIM 12167256 TAPT1 transmembrane anterior posterior transformation 1 gene DOID:9000260 OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE ISO RGD:1605561 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type PMID:25741868|PMID:26365339|PMID:28492532 12167277 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:0111723 Jacobsen Syndrome ISO RGD:737031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12167277 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:10608 celiac disease ISO RGD:737031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 12167277 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:5419 schizophrenia ISO RGD:737031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12167277 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:630 genetic disease ISO RGD:737031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167277 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:9004009 Reperfusion Injury ISO RGD:737031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 12167277 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:737031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12167277 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2583 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:17622743|REF_RGD_ID:2313849 12167277 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:9007364 Mouth Neoplasms disease_progression ISO RGD:2583 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression: PMID:17708355|REF_RGD_ID:2303822 12167277 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:9007661 Dwarfism ISO RGD:737031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12167277 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:9074 systemic lupus erythematosus ISO RGD:737031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838193 12167277 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:10554 D RGD:9068941 20200609 RGD protein:increased expression:nucleus PMID:19225563|REF_RGD_ID:2313847 12167277 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:737031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 12167277 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:737031 D RGD:9068941 20200609 RGD protein:increased expression:nucleus PMID:19225563|REF_RGD_ID:2313847 12167277 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:9744 type 1 diabetes mellitus ISO RGD:737031 D RGD:9068941 20200609 RGD PMID:1982251|REF_RGD_ID:2313850 12167277 ETS1 ETS proto-oncogene 1, transcription factor gene DOID:9744 type 1 diabetes mellitus ISO RGD:737031 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:1686010|REF_RGD_ID:2313901 12167304 NADK NAD kinase gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1606514 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12167304 NADK NAD kinase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606514 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12167304 NADK NAD kinase gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1606514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12167304 NADK NAD kinase gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1606514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12167304 NADK NAD kinase gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1606514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12167304 NADK NAD kinase gene DOID:0110994 Joubert syndrome 25 ISO RGD:1606514 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12167304 NADK NAD kinase gene DOID:0111934 immunodeficiency 38 ISO RGD:1606514 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12167304 NADK NAD kinase gene DOID:0111935 immunodeficiency 16 ISO RGD:1606514 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12167304 NADK NAD kinase gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1606514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12167304 NADK NAD kinase gene DOID:630 genetic disease ISO RGD:1606514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167304 NADK NAD kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12167304 NADK NAD kinase gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1606514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12167304 NADK NAD kinase gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1606514 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12167331 ABCC6 ATP binding cassette subfamily C member 6 gene DOID:0050644 arterial calcification of infancy ISO RGD:734433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25758222 12167331 ABCC6 ATP binding cassette subfamily C member 6 gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:734433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:12384774|PMID:25741868|PMID:28492532 12167331 ABCC6 ATP binding cassette subfamily C member 6 gene DOID:12241 beta thalassemia ISO RGD:734434 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:21281810|REF_RGD_ID:11038787 12167331 ABCC6 ATP binding cassette subfamily C member 6 gene DOID:12849 autistic disorder ISO RGD:734433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12167331 ABCC6 ATP binding cassette subfamily C member 6 gene DOID:1826 epilepsy ISO RGD:734433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12167331 ABCC6 ATP binding cassette subfamily C member 6 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:734433 D RGD:7240710 20180130 OMIM 12167331 ABCC6 ATP binding cassette subfamily C member 6 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:734433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, forme fruste PMID:10811882|PMID:10835642|PMID:10835643|PMID:10954200|PMID:11179012|PMID:11427982|PMID:11439001|PMID:11474653|PMID:11493310|PMID:11536079|PMID:11692167|PMID:11702217|PMID:11880368|PMID:12176944|PMID:12384774|PMID:12673275|PMID:12714611|PMID:12928920|PMID:14631379|PMID:15086542|PMID:15098239|PMID:15184964|PMID:15459974|PMID:15645653|PMID:15723264|PMID:15727254|PMID:15752294|PMID:15894595|PMID:16086317|PMID:16086762|PMID:16127278|PMID:16199547|PMID:16392638|PMID:16410789|PMID:16541094|PMID:16543900|PMID:16573612|PMID:16835894|PMID:16854481|PMID:17576681|PMID:17617515|PMID:17724214|PMID:17823974|PMID:18157818|PMID:18253096|PMID:18347285|PMID:18513494|PMID:18800149|PMID:19284998|PMID:19339160|PMID:19726431|PMID:19904211|PMID:20034067|PMID:20075945|PMID:20799350|PMID:20801516|PMID:20849526|PMID:21179111|PMID:21935449|PMID:22209248|PMID:23483032|PMID:23572048|PMID:23702584|PMID:24008425|PMID:24033266|PMID:24088041|PMID:24352041|PMID:24727260|PMID:25062064|PMID:25264593|PMID:25265166|PMID:25615550|PMID:25741868|PMID:26029710|PMID:26084751|PMID:26633545|PMID:26982014|PMID:27133371|PMID:27994049|PMID:28041643|PMID:28102862|PMID:28186352|PMID:28492532|PMID:28655553|PMID:28912966|PMID:29709427|PMID:29722917|PMID:29800625|PMID:30154241|PMID:30229859|PMID:30328268|PMID:30537162|PMID:30805891|PMID:31164056|PMID:31240106|PMID:31456290|PMID:32037395|PMID:32372237|PMID:32818659|PMID:32860008|PMID:32873932|PMID:33812167|PMID:33946315|PMID:34440381|PMID:34597610|PMID:9536098 12167331 ABCC6 ATP binding cassette subfamily C member 6 gene DOID:2738 pseudoxanthoma elasticum no_association ISO RGD:734433 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:c.-127C>T, c.-132C>T (human) PMID:16835894|REF_RGD_ID:11038786 12167331 ABCC6 ATP binding cassette subfamily C member 6 gene DOID:2738 pseudoxanthoma elasticum susceptibility ISO RGD:734433 D RGD:9068941 20200609 RGD PMID:10835643|REF_RGD_ID:737772 12167331 ABCC6 ATP binding cassette subfamily C member 6 gene DOID:3144 cutis laxa ISO RGD:734433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:10811882|PMID:10835642|PMID:11536079|PMID:12176944|PMID:12384774|PMID:12714611|PMID:16541094|PMID:17617515|PMID:18800149|PMID:22209248|PMID:25741868|PMID:26982014|PMID:28102862|PMID:28492532 12167331 ABCC6 ATP binding cassette subfamily C member 6 gene DOID:3393 coronary artery disease ISO RGD:734433 D RGD:9068941 20200609 RGD DNA:nonsense mutation:exon:p.R1141X (3421C>T) (human) PMID:12176944|REF_RGD_ID:11038788 12167331 ABCC6 ATP binding cassette subfamily C member 6 gene DOID:5419 schizophrenia ISO RGD:734433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12167331 ABCC6 ATP binding cassette subfamily C member 6 gene DOID:630 genetic disease ISO RGD:734433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12167331 ABCC6 ATP binding cassette subfamily C member 6 gene DOID:8445 intestinal volvulus ISO RGD:734433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12167331 ABCC6 ATP binding cassette subfamily C member 6 gene DOID:9000524 Generalized Arterial Calcification of Infancy, 2 ISO RGD:734433 D RGD:7240710 20180130 OMIM 12167331 ABCC6 ATP binding cassette subfamily C member 6 gene DOID:9000524 Generalized Arterial Calcification of Infancy, 2 ISO RGD:734433 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 2 PMID:10811882|PMID:10835642|PMID:11179012|PMID:11439001|PMID:11474653|PMID:11536079|PMID:11702217|PMID:12176944|PMID:12384774|PMID:12673275|PMID:12714611|PMID:14631379|PMID:15086542|PMID:15459974|PMID:16086317|PMID:16127278|PMID:16199547|PMID:16410789|PMID:16541094|PMID:16573612|PMID:16835894|PMID:17617515|PMID:18157818|PMID:18253096|PMID:18800149|PMID:19339160|PMID:19726431|PMID:20034067|PMID:21935449|PMID:22209248|PMID:23483032|PMID:24008425|PMID:24033266|PMID:24088041|PMID:25264593|PMID:25265166|PMID:25741868|PMID:26633545|PMID:26982014|PMID:27994049|PMID:28102862|PMID:28492532|PMID:28655553|PMID:29722917|PMID:30154241|PMID:30537162|PMID:30805891|PMID:32873932|PMID:34597610 12167331 ABCC6 ATP binding cassette subfamily C member 6 gene DOID:9000918 Disease Progression ISO RGD:734433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12167331 ABCC6 ATP binding cassette subfamily C member 6 gene DOID:9002457 Experimental Arthritis ISO RGD:620268 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:22974786|REF_RGD_ID:11038789 12167331 ABCC6 ATP binding cassette subfamily C member 6 gene DOID:9006205 Animal Disease Models ISO RGD:734433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23415960 12167331 ABCC6 ATP binding cassette subfamily C member 6 gene DOID:9006273 Pseudoxanthoma Elasticum, Heterozygous ISO RGD:734433 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS PMID:10811882|PMID:10835642|PMID:11536079|PMID:12176944|PMID:12384774|PMID:12714611|PMID:16541094|PMID:17617515|PMID:18800149|PMID:22209248|PMID:25741868|PMID:26982014|PMID:28102862|PMID:28492532 12167331 ABCC6 ATP binding cassette subfamily C member 6 gene DOID:9007096 Stroke ISO RGD:734433 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28492532 12167331 ABCC6 ATP binding cassette subfamily C member 6 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:734433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:24581741|PMID:26601923|PMID:28492532|PMID:30554721 12167331 ABCC6 ATP binding cassette subfamily C member 6 gene DOID:9008296 Eye Abnormalities ISO RGD:734433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:11536079|PMID:12673275|PMID:14631379|PMID:15086542|PMID:17617515|PMID:18347285|PMID:25741868|PMID:28041643|PMID:28492532|PMID:31164056|PMID:32873932 12167331 ABCC6 ATP binding cassette subfamily C member 6 gene DOID:9008419 Volvulus Of Midgut ISO RGD:734433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12167331 ABCC6 ATP binding cassette subfamily C member 6 gene DOID:9008443 Colorectal Neoplasms ISO RGD:734433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12167366 SYT4 synaptotagmin 4 gene DOID:1059 intellectual disability ISO RGD:68582 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12167366 SYT4 synaptotagmin 4 gene DOID:11832 visual epilepsy ISO RGD:68397 D RGD:9068941 20200609 RGD PMID:8872307|REF_RGD_ID:730127 12167366 SYT4 synaptotagmin 4 gene DOID:1909 melanoma ISO RGD:68582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 12167366 SYT4 synaptotagmin 4 gene DOID:630 genetic disease ISO RGD:68582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167375 ALAS2 5'-aminolevulinate synthase 2 gene DOID:0050554 X-linked sideroblastic anemia with ataxia ISO RGD:736755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia 12167375 ALAS2 5'-aminolevulinate synthase 2 gene DOID:0060063 sideroblastic anemia 1 ISO RGD:736755 D RGD:7240710 20180130 OMIM 12167375 ALAS2 5'-aminolevulinate synthase 2 gene DOID:0060063 sideroblastic anemia 1 ISO RGD:736755 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia PMID:10029606|PMID:10444183|PMID:11110715|PMID:12031592|PMID:12531813|PMID:12663458|PMID:1570328|PMID:16121195|PMID:16446107|PMID:18823803|PMID:20848343|PMID:21309041|PMID:21653323|PMID:22269113|PMID:22740690|PMID:22778251|PMID:22995991|PMID:23315997|PMID:23409301|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28840292|PMID:32297424|PMID:7560104|PMID:7592563|PMID:7705839|PMID:7949148|PMID:8107717|PMID:9226183|PMID:9488633|PMID:9858242 12167375 ALAS2 5'-aminolevulinate synthase 2 gene DOID:0060063 sideroblastic anemia 1 onset ISO RGD:736755 D RGD:9068941 20200609 RGD DNA:mutation:exon: 1236 G> A, p.C395Y (human) PMID:11110715|REF_RGD_ID:11035243 12167375 ALAS2 5'-aminolevulinate synthase 2 gene DOID:0060063 sideroblastic anemia 1 onset ISO RGD:736755 D RGD:9068941 20200609 RGD DNA:mutations:exons:p.K299Q,A172T(human) PMID:7560104|REF_RGD_ID:11035241 12167375 ALAS2 5'-aminolevulinate synthase 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12167375 ALAS2 5'-aminolevulinate synthase 2 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:736755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 12167375 ALAS2 5'-aminolevulinate synthase 2 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:736755 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:25326637|PMID:28492532 12167375 ALAS2 5'-aminolevulinate synthase 2 gene DOID:12849 autistic disorder ISO RGD:736755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12167375 ALAS2 5'-aminolevulinate synthase 2 gene DOID:13271 cutaneous porphyria severity ISO RGD:736755 D RGD:9068941 20200609 RGD DNA:mutation:exon: c.1757 A > T, p.Y586F (human) PMID:21653323|REF_RGD_ID:11035240 12167375 ALAS2 5'-aminolevulinate synthase 2 gene DOID:2352 hemochromatosis severity ISO RGD:736755 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.15599C>T,p.520L(human) PMID:16446107|REF_RGD_ID:11035246 12167375 ALAS2 5'-aminolevulinate synthase 2 gene DOID:2355 anemia ISO RGD:2084 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:21296123|REF_RGD_ID:10449049 12167375 ALAS2 5'-aminolevulinate synthase 2 gene DOID:2741 bilirubin metabolic disorder ISO RGD:2084 D RGD:9068941 20200609 RGD protein:decreased activity:liver: PMID:8351413|REF_RGD_ID:11035235 12167375 ALAS2 5'-aminolevulinate synthase 2 gene DOID:3890 acute intermittent porphyria ISO RGD:736755 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:23650938|REF_RGD_ID:18337288 12167375 ALAS2 5'-aminolevulinate synthase 2 gene DOID:583 hemolytic anemia ISO RGD:2084 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:17082564|REF_RGD_ID:1599038 12167375 ALAS2 5'-aminolevulinate synthase 2 gene DOID:630 genetic disease ISO RGD:736755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12167375 ALAS2 5'-aminolevulinate synthase 2 gene DOID:8955 sideroblastic anemia ISO RGD:736755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16716198|PMID:16892088 12167375 ALAS2 5'-aminolevulinate synthase 2 gene DOID:8955 sideroblastic anemia susceptibility ISO RGD:736755 D RGD:9068941 20200609 RGD DNA:transversion:cds:p.F165L (human) PMID:7949148|REF_RGD_ID:1599037 12167375 ALAS2 5'-aminolevulinate synthase 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 12167375 ALAS2 5'-aminolevulinate synthase 2 gene DOID:9008396 Erythropoietic Protoporphyria, X-Linked Dominant ISO RGD:736755 D RGD:7240710 20180130 OMIM 12167375 ALAS2 5'-aminolevulinate synthase 2 gene DOID:9008396 Erythropoietic Protoporphyria, X-Linked Dominant ISO RGD:736755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED | ClinVar Annotator: match by term: Erythropoietic Protoporphyria, X-Linked Dominant PMID:18760763|PMID:23263862|PMID:23409301|PMID:28492532 12167375 ALAS2 5'-aminolevulinate synthase 2 gene DOID:9008396 Erythropoietic Protoporphyria, X-Linked Dominant disease_progression ISO RGD:736755 D RGD:9068941 20200609 RGD DNA:deletions:exon: c.1699-1700delAT, c.1706-1709delAGTG (human) PMID:18760763|REF_RGD_ID:18337287 12167388 LOC607937 T cell receptor alpha variable 9-2 gene DOID:0111977 immunodeficiency 7 ISO RGD:1349761 D RGD:7240710 20180130 OMIM 12167388 LOC607937 T cell receptor alpha variable 9-2 gene DOID:0111977 immunodeficiency 7 ISO RGD:1349761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TCR-alpha-beta-positive T-cell deficiency PMID:21206088|PMID:33909184 12167396 BRI3 brain protein I3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12167396 BRI3 brain protein I3 gene DOID:630 genetic disease ISO RGD:1319388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167405 MDFI MyoD family inhibitor gene DOID:0050444 infantile Refsum disease ISO RGD:1353332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12167405 MDFI MyoD family inhibitor gene DOID:630 genetic disease ISO RGD:1353332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167405 MDFI MyoD family inhibitor gene DOID:905 Zellweger syndrome ISO RGD:1353332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12167417 LOC610875 keratin-associated protein 10-8 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1605521 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 12167417 LOC610875 keratin-associated protein 10-8 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1605521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12167417 LOC610875 keratin-associated protein 10-8 gene DOID:0110266 cataract 9 multiple types ISO RGD:1605521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12167417 LOC610875 keratin-associated protein 10-8 gene DOID:12849 autistic disorder ISO RGD:1605521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12167417 LOC610875 keratin-associated protein 10-8 gene DOID:630 genetic disease ISO RGD:1605521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167417 LOC610875 keratin-associated protein 10-8 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1605521 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12167417 LOC610875 keratin-associated protein 10-8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12167417 LOC610875 keratin-associated protein 10-8 gene DOID:9263 homocystinuria ISO RGD:1605521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12167417 LOC610875 keratin-associated protein 10-8 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12167421 TAFA4 TAFA chemokine like family member 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1345564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15818620 12167436 TOMM40 translocase of outer mitochondrial membrane 40 gene DOID:10652 Alzheimer's disease ISO RGD:1343121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27023435|PMID:29107063|PMID:30319691|PMID:30320580 12167436 TOMM40 translocase of outer mitochondrial membrane 40 gene DOID:3526 cerebral infarction ISO RGD:1343121 D RGD:9068941 20200609 RGD DNA:SNP: :rs2075650 (human) PMID:26171154|REF_RGD_ID:13464126 12167436 TOMM40 translocase of outer mitochondrial membrane 40 gene DOID:3910 lung adenocarcinoma ISO RGD:1343121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12167436 TOMM40 translocase of outer mitochondrial membrane 40 gene DOID:630 genetic disease ISO RGD:1343121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167436 TOMM40 translocase of outer mitochondrial membrane 40 gene DOID:9003370 Dyslipidemias ISO RGD:1343121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29670124 12167436 TOMM40 translocase of outer mitochondrial membrane 40 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1303022 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:23255365|REF_RGD_ID:13463486 12167436 TOMM40 translocase of outer mitochondrial membrane 40 gene DOID:9006205 Animal Disease Models ISO RGD:1343121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12167453 OR8U3 olfactory receptor family 8 subfamily U member 3 gene DOID:1059 intellectual disability ISO RGD:1351573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12167453 OR8U3 olfactory receptor family 8 subfamily U member 3 gene DOID:630 genetic disease ISO RGD:1351573 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167456 ADGRG5 adhesion G protein-coupled receptor G5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1313657 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12167456 ADGRG5 adhesion G protein-coupled receptor G5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1313657 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12167456 ADGRG5 adhesion G protein-coupled receptor G5 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12167456 ADGRG5 adhesion G protein-coupled receptor G5 gene DOID:630 genetic disease ISO RGD:1313657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167477 SLFN5 schlafen family member 5 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:1603889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 12167477 SLFN5 schlafen family member 5 gene DOID:630 genetic disease ISO RGD:1603889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167484 PPP2R3B protein phosphatase 2 regulatory subunit B''beta gene DOID:12849 autistic disorder ISO RGD:1604626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12167504 WAC WW domain containing adaptor with coiled-coil gene DOID:0081126 DeSanto-Shinawi syndrome ISO RGD:1605391 D RGD:7240710 20190315 OMIM 12167504 WAC WW domain containing adaptor with coiled-coil gene DOID:0081126 DeSanto-Shinawi syndrome ISO RGD:1605391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, FACIAL DYSMORPHISM, AND OCULAR ABNORMALITIES | ClinVar Annotator: match by term: DeSanto-Shinawi syndrome | ClinVar Annotator: match by term: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation PMID:23033978|PMID:25741868|PMID:26264232|PMID:26757981|PMID:28191890|PMID:29190062 12167504 WAC WW domain containing adaptor with coiled-coil gene DOID:630 genetic disease ISO RGD:1605391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21522184|PMID:23033978|PMID:25356899|PMID:25741868|PMID:26264232|PMID:26325558|PMID:26757981|PMID:28492532 12167504 WAC WW domain containing adaptor with coiled-coil gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28319090 12167504 WAC WW domain containing adaptor with coiled-coil gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12167662 SYNGR1 synaptogyrin 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:736639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12167662 SYNGR1 synaptogyrin 1 gene DOID:10283 prostate cancer ISO RGD:736639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12167662 SYNGR1 synaptogyrin 1 gene DOID:5419 schizophrenia ISO RGD:736639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:25741868 12167662 SYNGR1 synaptogyrin 1 gene DOID:630 genetic disease ISO RGD:736639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167662 SYNGR1 synaptogyrin 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:736639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 12167662 SYNGR1 synaptogyrin 1 gene DOID:9119 acute myeloid leukemia ISO RGD:736639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12167679 IL21 interleukin 21 gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:21204603|PMID:29370719|REF_RGD_ID:127285376|REF_RGD_ID:127285545 12167679 IL21 interleukin 21 gene DOID:0081153 common variable immunodeficiency 11 ISO RGD:1316553 D RGD:7240710 20180130 OMIM 12167679 IL21 interleukin 21 gene DOID:0081153 common variable immunodeficiency 11 ISO RGD:1316553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency 11 PMID:24033266|PMID:24746753|PMID:25741868|PMID:28492532 12167679 IL21 interleukin 21 gene DOID:10608 celiac disease ISO RGD:1316553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17558408 12167679 IL21 interleukin 21 gene DOID:10608 celiac disease susceptibility ISO RGD:1316553 D RGD:9068941 20210625 RGD protein:increased expression:blood serum (human) PMID:22077623|REF_RGD_ID:127285362 12167679 IL21 interleukin 21 gene DOID:11168 anogenital venereal wart ISO RGD:1316553 D RGD:9068941 20210625 RGD protein:decreased expression:blood serum (human) PMID:31414711|REF_RGD_ID:127285371 12167679 IL21 interleukin 21 gene DOID:12177 common variable immunodeficiency ISO RGD:1316553 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IL21 DEFICIENCY PMID:24033266|PMID:24746753|PMID:25741868|PMID:28492532 12167679 IL21 interleukin 21 gene DOID:12206 dengue hemorrhagic fever severity ISO RGD:1316553 D RGD:9068941 20210625 RGD protein:increased expression:blood serum (human) PMID:24858204|REF_RGD_ID:127285368 12167679 IL21 interleukin 21 gene DOID:12365 malaria exacerbates ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:25763578|REF_RGD_ID:127285358 12167679 IL21 interleukin 21 gene DOID:1909 melanoma treatment ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:22477528|REF_RGD_ID:127285553 12167679 IL21 interleukin 21 gene DOID:2043 hepatitis B ISO RGD:1316554 D RGD:9068941 20210625 RGD mRNA:increased expression:spleen (C57BL/6N mouse) PMID:29544722|REF_RGD_ID:127285375 12167679 IL21 interleukin 21 gene DOID:2048 autoimmune hepatitis exacerbates ISO RGD:1316553 D RGD:9068941 20210625 RGD protein:increased expression:blood serum, peripheral blood mononuclear cell (human) PMID:27386263|REF_RGD_ID:127285554 12167679 IL21 interleukin 21 gene DOID:234 colon adenocarcinoma treatment ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:17695518|REF_RGD_ID:127285540 12167679 IL21 interleukin 21 gene DOID:2841 asthma ISO RGD:1316553 D RGD:9068941 20200609 RGD DNA:SNP:exon:5250C>T (human) PMID:18802358|REF_RGD_ID:5147396 12167679 IL21 interleukin 21 gene DOID:321 tropical spastic paraparesis ISO RGD:1316553 D RGD:9068941 20210625 RGD protein:decreased expression:blood serum (human) PMID:28378248|REF_RGD_ID:127285561 12167679 IL21 interleukin 21 gene DOID:3388 periodontal disease ISO RGD:1307384 D RGD:9068941 20200609 RGD mRNA:increased expression:lymph node, B cell PMID:20618701|REF_RGD_ID:5024938 12167679 IL21 interleukin 21 gene DOID:3944 Arenaviridae infectious disease ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:21423809|REF_RGD_ID:127285543 12167679 IL21 interleukin 21 gene DOID:4270 encephalitozoonosis ISO RGD:1316554 D RGD:9068941 20210625 RGD protein:increased expression:CD4-positive helper T cell (mouse) PMID:26597007|REF_RGD_ID:11086452 12167679 IL21 interleukin 21 gene DOID:4483 rhinitis ISO RGD:1316554 D RGD:9068941 20200609 RGD PMID:17982108|REF_RGD_ID:5147397 12167679 IL21 interleukin 21 gene DOID:5082 liver cirrhosis exacerbates ISO RGD:1316553 D RGD:9068941 20210625 RGD associated with Chronic Hepatitis B;mRNA:increased expression: liver (human) PMID:24611989|REF_RGD_ID:127285546 12167679 IL21 interleukin 21 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1316553 D RGD:9068941 20210625 RGD associated with hepatitis B;protein:decreased expression:blood serum (human) PMID:22948268|REF_RGD_ID:127285366 12167679 IL21 interleukin 21 gene DOID:630 genetic disease ISO RGD:1316553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12167679 IL21 interleukin 21 gene DOID:684 hepatocellular carcinoma ISO RGD:1316553 D RGD:9068941 20210618 RGD associated with hepatitis B;DNA:SNPS, haplotype:(rs13143866, rs2221903, rs907715) (human) PMID:25892873|REF_RGD_ID:127285359 12167679 IL21 interleukin 21 gene DOID:8566 herpes simplex ISO RGD:1316554 D RGD:9068941 20210625 RGD mRNA:increased expression:spleen (mouse) PMID:16406655|REF_RGD_ID:127285372 12167679 IL21 interleukin 21 gene DOID:8566 herpes simplex treatment ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:19233474|REF_RGD_ID:127285367 12167679 IL21 interleukin 21 gene DOID:8704 genital herpes treatment ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:24358128|REF_RGD_ID:127285365 12167679 IL21 interleukin 21 gene DOID:8869 neuromyelitis optica ISO RGD:1316553 D RGD:9068941 20210625 RGD protein:increased expression:cerebrospinal fluid (human) PMID:23041403|REF_RGD_ID:127285589 12167679 IL21 interleukin 21 gene DOID:9000238 Acute-On-Chronic Liver Failure ameliorates ISO RGD:1316553 D RGD:9068941 20210625 RGD associated with Chronic Hepatitis B;protein:decreased expression:blood serum (human) PMID:21692955|REF_RGD_ID:127285541 12167679 IL21 interleukin 21 gene DOID:9000371 influenza A ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:25251568|REF_RGD_ID:127285548 12167679 IL21 interleukin 21 gene DOID:9000469 Viral Myocarditis treatment ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:25889760|REF_RGD_ID:127285552 12167679 IL21 interleukin 21 gene DOID:9001953 Pneumovirus Infections ISO RGD:1316554 D RGD:9068941 20210625 RGD mRNA:increased expression:lung (mouse) PMID:22238461|REF_RGD_ID:6892925 12167679 IL21 interleukin 21 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1307384 D RGD:9068941 20200609 RGD PMID:18997868|REF_RGD_ID:5147399 12167679 IL21 interleukin 21 gene DOID:9004017 Chronic Hepatitis C ameliorates ISO RGD:1316553 D RGD:9068941 20210625 RGD protein:increased expression:liver, blood, CD4-positive, alpha-beta T cell (human) PMID:24170093|REF_RGD_ID:127285373 12167679 IL21 interleukin 21 gene DOID:9004283 Transplant Rejection ISO RGD:1316553 D RGD:9068941 20210625 RGD associated with hepatitis B;DNA:SNPs, haplotype:intron, CDS:1472G>T, 5250C>T (rs2055979, rs4833837) (human) PMID:23656167|REF_RGD_ID:127285550 12167679 IL21 interleukin 21 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1316553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 12167679 IL21 interleukin 21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12167679 IL21 interleukin 21 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:1316554 D RGD:9068941 20210618 RGD PMID:23667536|REF_RGD_ID:127285360 12167679 IL21 interleukin 21 gene DOID:9007204 Dysbiosis treatment ISO RGD:1307384 D RGD:9068941 20200903 RGD PMID:32227764|REF_RGD_ID:38549571 12167679 IL21 interleukin 21 gene DOID:9008114 Helicobacter Infections ISO RGD:1316553 D RGD:9068941 20210625 RGD mRNA, protein:increased expression:mucosa of stomach (human) PMID:17442980|REF_RGD_ID:127285542 12167679 IL21 interleukin 21 gene DOID:9008114 Helicobacter Infections ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:31383743|REF_RGD_ID:127285544 12167679 IL21 interleukin 21 gene DOID:9008163 Chronic Hepatitis B exacerbates ISO RGD:1316553 D RGD:9068941 20210625 RGD protein:decreased expression:blood serum (human) PMID:28500636|REF_RGD_ID:127285361 12167679 IL21 interleukin 21 gene DOID:9008163 Chronic Hepatitis B exacerbates ISO RGD:1316553 D RGD:9068941 20210625 RGD protein:increased expression:blood serum (human) PMID:25243706|REF_RGD_ID:127285378 12167679 IL21 interleukin 21 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1316553 D RGD:9068941 20210625 RGD DNA:SNP:intron: (rs2221903) (human) PMID:23354321|REF_RGD_ID:127285353 12167679 IL21 interleukin 21 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1316553 D RGD:9068941 20210625 RGD DNA:SNPs:introns: (rs2221903, rs907715) (human) PMID:29879024|REF_RGD_ID:127285539 12167679 IL21 interleukin 21 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1316553 D RGD:9068941 20210625 RGD associated with non-alcoholic fatty liver disease PMID:26840345|REF_RGD_ID:127285549 12167679 IL21 interleukin 21 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:30260401|PMID:31281514|PMID:32373234|REF_RGD_ID:127285364|REF_RGD_ID:127285369|REF_RGD_ID:127285551 12167679 IL21 interleukin 21 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316553 D RGD:9068941 20210625 RGD protein:decreased expression:colorectum (human) PMID:28483840|REF_RGD_ID:127285377 12167679 IL21 interleukin 21 gene DOID:9065 leishmaniasis exacerbates ISO RGD:1316554 D RGD:9068941 20210625 RGD protein:increased expression:popliteal lymph node (mouse) PMID:22429963|REF_RGD_ID:127285547 12167679 IL21 interleukin 21 gene DOID:9074 systemic lupus erythematosus ISO RGD:1316553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17911475 12167679 IL21 interleukin 21 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1316553 D RGD:9068941 20210625 RGD DNA:SNP:intron: (rs907715) (human) PMID:23236436|REF_RGD_ID:127285363 12167679 IL21 interleukin 21 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1316554 D RGD:9068941 20210625 RGD associated with Arenaviridae infectious disease PMID:27300756|REF_RGD_ID:127285370 12167679 IL21 interleukin 21 gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:28711285|REF_RGD_ID:127285590 12167688 CCL1 C-C motif chemokine ligand 1 gene DOID:1063 interstitial nephritis ISO RGD:1353511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10385480 12167688 CCL1 C-C motif chemokine ligand 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1618405 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:11134301|REF_RGD_ID:4891417 12167688 CCL1 C-C motif chemokine ligand 1 gene DOID:2377 multiple sclerosis ISO RGD:1353511 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:c.*136G>A (rs3136682) (human) PMID:19865101|REF_RGD_ID:4145472 12167688 CCL1 C-C motif chemokine ligand 1 gene DOID:2527 nephrosis ISO RGD:1586495 D RGD:9068941 20200609 RGD PMID:10867541|REF_RGD_ID:4891422 12167688 CCL1 C-C motif chemokine ligand 1 gene DOID:2841 asthma ISO RGD:1353511 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:20455898|REF_RGD_ID:4891420 12167688 CCL1 C-C motif chemokine ligand 1 gene DOID:289 endometriosis ISO RGD:1353511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30579999 12167688 CCL1 C-C motif chemokine ligand 1 gene DOID:2921 glomerulonephritis ISO RGD:1353511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10385480 12167688 CCL1 C-C motif chemokine ligand 1 gene DOID:2921 glomerulonephritis ISO RGD:1586495 D RGD:9068941 20200609 RGD PMID:11157384|REF_RGD_ID:8693624 12167688 CCL1 C-C motif chemokine ligand 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1618405 D RGD:9068941 20200619 RGD mRNA: increased expression:lung (mouse) PMID:15356152|REF_RGD_ID:30309221 12167688 CCL1 C-C motif chemokine ligand 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:1618405 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, dendritic cell PMID:18703681|REF_RGD_ID:4891409 12167688 CCL1 C-C motif chemokine ligand 1 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1353511 D RGD:9068941 20200609 RGD DNA:SNP: :multiple (human) PMID:19057661|REF_RGD_ID:4891408 12167688 CCL1 C-C motif chemokine ligand 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1353511 D RGD:9068941 20200609 RGD DNA:SNP:enhancer:rs2282691 (human) PMID:16864713|REF_RGD_ID:4891410 12167688 CCL1 C-C motif chemokine ligand 1 gene DOID:399 tuberculosis susceptibility ISO RGD:1353511 D RGD:9068941 20200609 RGD DNA:SNP: :rs159294, rs210837, rs10491110 (human) PMID:19057661|REF_RGD_ID:4891408 12167688 CCL1 C-C motif chemokine ligand 1 gene DOID:4483 rhinitis ISO RGD:1353511 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:17982926|REF_RGD_ID:4145109 12167688 CCL1 C-C motif chemokine ligand 1 gene DOID:630 genetic disease ISO RGD:1353511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167688 CCL1 C-C motif chemokine ligand 1 gene DOID:6432 pulmonary hypertension ISO RGD:1353511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22507635 12167688 CCL1 C-C motif chemokine ligand 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1618405 D RGD:9068941 20210423 RGD mRNA:increased expression:liver (mouse) PMID:26569409|REF_RGD_ID:11344640 12167688 CCL1 C-C motif chemokine ligand 1 gene DOID:9001472 Nasal Polyps ISO RGD:1353511 D RGD:9068941 20200609 RGD associated with Sinusitis PMID:20598643|REF_RGD_ID:4891418 12167688 CCL1 C-C motif chemokine ligand 1 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1618405 D RGD:9068941 20200609 RGD associated with Schistosomiasis mansoni PMID:12600821|REF_RGD_ID:4145441 12167688 CCL1 C-C motif chemokine ligand 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1586495 D RGD:9068941 20200609 RGD mRNA:decreased expression:lymph node PMID:19865101|REF_RGD_ID:4145472 12167688 CCL1 C-C motif chemokine ligand 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12167688 CCL1 C-C motif chemokine ligand 1 gene DOID:9498 pulmonary eosinophilia ISO RGD:1618405 D RGD:9068941 20200609 RGD associated with Asthma PMID:12707363|REF_RGD_ID:4891412 12167693 CDK3 cyclin dependent kinase 3 gene DOID:630 genetic disease ISO RGD:1353695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167705 ZC3H13 zinc finger CCCH-type containing 13 gene DOID:630 genetic disease ISO RGD:1317090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167705 ZC3H13 zinc finger CCCH-type containing 13 gene DOID:9002189 High Myopia ISO RGD:1317090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12167734 CLN6 CLN6 transmembrane ER protein gene DOID:0050952 spastic ataxia ISO RGD:1320201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 12167734 CLN6 CLN6 transmembrane ER protein gene DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy ISO RGD:1320201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy PMID:25741868|PMID:26467025|PMID:28492532 12167734 CLN6 CLN6 transmembrane ER protein gene DOID:0110729 neuronal ceroid lipofuscinosis 6A IAGP D RGD:12801476 20211103 OMIA Neuronal ceroid lipofuscinosis, 6 PMID:18371036|PMID:21234413|PMID:20429032|PMID:23338040|PMID:28860089|PMID:32219101|PMID:33769611 12167734 CLN6 CLN6 transmembrane ER protein gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:1320201 D RGD:7240710 20180130 OMIM 12167734 CLN6 CLN6 transmembrane ER protein gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:1320201 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 6 PMID:11727201|PMID:11791207|PMID:12673792|PMID:12815591|PMID:15265688|PMID:15996215|PMID:16199547|PMID:17453415|PMID:17576681|PMID:18414213|PMID:18684116|PMID:18811591|PMID:18846690|PMID:19135028|PMID:19201763|PMID:20020536|PMID:20301601|PMID:21359198|PMID:21549341|PMID:21819394|PMID:21990111|PMID:25359263|PMID:25401298|PMID:25590979|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26115733|PMID:26206375|PMID:26374131|PMID:26467025|PMID:26539891|PMID:27553520|PMID:27903347|PMID:28492532|PMID:28587997|PMID:28831385|PMID:29140481|PMID:30019023|PMID:30285654|PMID:30528883|PMID:30561534|PMID:31216804|PMID:31319225|PMID:31489614|PMID:32171521|PMID:33024953|PMID:34597687|PMID:35505348|PMID:9536098 12167734 CLN6 CLN6 transmembrane ER protein gene DOID:0110730 neuronal ceroid lipofuscinosis 6B ISO RGD:1320201 D RGD:7240710 20180314 OMIM 12167734 CLN6 CLN6 transmembrane ER protein gene DOID:0110730 neuronal ceroid lipofuscinosis 6B ISO RGD:1320201 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 4A autosomal recessive | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 4A PMID:12673792|PMID:12815591|PMID:14997940|PMID:18846690|PMID:19135028|PMID:19201763|PMID:21549341|PMID:21990111|PMID:25741868|PMID:26075876|PMID:26115733|PMID:26467025|PMID:26539891|PMID:27535533|PMID:27903347|PMID:28492532|PMID:30285654|PMID:30561534|PMID:31489614|PMID:3284607|PMID:33875558|PMID:35505348 12167734 CLN6 CLN6 transmembrane ER protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1320201 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:11727201|PMID:11791207|PMID:12673792|PMID:12815591|PMID:14997940|PMID:15265688|PMID:15996215|PMID:16199547|PMID:17046213|PMID:17453415|PMID:17576681|PMID:17988881|PMID:18414213|PMID:18684116|PMID:18811591|PMID:18846690|PMID:19135028|PMID:19201763|PMID:20020536|PMID:20301601|PMID:20430023|PMID:21359198|PMID:21549341|PMID:21819394|PMID:21990111|PMID:22883287|PMID:24102492|PMID:24215330|PMID:25359263|PMID:25401298|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26115733|PMID:26206375|PMID:26374131|PMID:26467025|PMID:26539891|PMID:27535533|PMID:27553520|PMID:27903347|PMID:28492532|PMID:28587997|PMID:28831385|PMID:29140481|PMID:30019023|PMID:30285654|PMID:30528883|PMID:30561534|PMID:31216804|PMID:31319225|PMID:31489614|PMID:31741823|PMID:32171521|PMID:33024953|PMID:34597687|PMID:35505348|PMID:9536098 12167734 CLN6 CLN6 transmembrane ER protein gene DOID:1826 epilepsy ISO RGD:1320201 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:11727201|PMID:11791207|PMID:12673792|PMID:12815591|PMID:14997940|PMID:15265688|PMID:16199547|PMID:19135028|PMID:21359198|PMID:21549341|PMID:21990111|PMID:25359263|PMID:25741868|PMID:26075876|PMID:26467025|PMID:27535533|PMID:27553520|PMID:28492532|PMID:30019023|PMID:30285654|PMID:30561534 12167734 CLN6 CLN6 transmembrane ER protein gene DOID:2717 Bloom syndrome ISO RGD:1320201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12167734 CLN6 CLN6 transmembrane ER protein gene DOID:630 genetic disease ISO RGD:1320201 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11727201|PMID:11791207|PMID:12673792|PMID:12815591|PMID:14997940|PMID:15265688|PMID:16199547|PMID:17576681|PMID:18811591|PMID:19135028|PMID:20301601|PMID:20430023|PMID:21359198|PMID:21549341|PMID:21990111|PMID:25359263|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26206375|PMID:26467025|PMID:27535533|PMID:27553520|PMID:28492532|PMID:30019023|PMID:30285654|PMID:30528883|PMID:30561534|PMID:31489614|PMID:35505348|PMID:9536098 12167734 CLN6 CLN6 transmembrane ER protein gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive 12167734 CLN6 CLN6 transmembrane ER protein gene DOID:9000343 Vision Disorders ISO RGD:1320201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23789114 12167734 CLN6 CLN6 transmembrane ER protein gene DOID:9001981 Weight Loss ISO RGD:1320201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23789114 12167734 CLN6 CLN6 transmembrane ER protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12167734 CLN6 CLN6 transmembrane ER protein gene DOID:9004462 Atrophy ISO RGD:1320201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23789114 12167734 CLN6 CLN6 transmembrane ER protein gene DOID:9005372 Inflammation ISO RGD:1320201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23789114 12167734 CLN6 CLN6 transmembrane ER protein gene DOID:9006205 Animal Disease Models ISO RGD:1320201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23789114 12167734 CLN6 CLN6 transmembrane ER protein gene DOID:9006534 Nervous System Malformations ISO RGD:1320201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12167734 CLN6 CLN6 transmembrane ER protein gene DOID:9256 colorectal cancer ISO RGD:1320201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12167734 CLN6 CLN6 transmembrane ER protein gene DOID:9923 developmental coordination disorder ISO RGD:1320201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23789114 12167745 TMEM25 transmembrane protein 25 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1350182 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12167745 TMEM25 transmembrane protein 25 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1350182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12167745 TMEM25 transmembrane protein 25 gene DOID:0080690 RASopathy ISO RGD:1350182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12167745 TMEM25 transmembrane protein 25 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1350182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12167745 TMEM25 transmembrane protein 25 gene DOID:0110651 long QT syndrome 10 ISO RGD:1350182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12167745 TMEM25 transmembrane protein 25 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1350182 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12167745 TMEM25 transmembrane protein 25 gene DOID:0111971 immunodeficiency 18 ISO RGD:1350182 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12167745 TMEM25 transmembrane protein 25 gene DOID:0111972 immunodeficiency 19 ISO RGD:1350182 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12167745 TMEM25 transmembrane protein 25 gene DOID:0111973 immunodeficiency 17 ISO RGD:1350182 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12167745 TMEM25 transmembrane protein 25 gene DOID:630 genetic disease ISO RGD:1350182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167745 TMEM25 transmembrane protein 25 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12167745 TMEM25 transmembrane protein 25 gene DOID:9007661 Dwarfism ISO RGD:1350182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12167745 TMEM25 transmembrane protein 25 gene DOID:9008939 Breast Neoplasms ISO RGD:1350182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19776672 12167762 FAM171B family with sequence similarity 171 member B gene DOID:630 genetic disease ISO RGD:1354368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167762 FAM171B family with sequence similarity 171 member B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12167773 FAM181A family with sequence similarity 181 member A gene DOID:0080054 achondrogenesis type IA ISO RGD:1319141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12167773 FAM181A family with sequence similarity 181 member A gene DOID:0081063 DICER1 syndrome ISO RGD:1319141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 12167773 FAM181A family with sequence similarity 181 member A gene DOID:630 genetic disease ISO RGD:1319141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167786 ZNF239 zinc finger protein 239 gene DOID:630 genetic disease ISO RGD:1351594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167795 MIR200A microRNA mir-200a gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1348162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12167795 MIR200A microRNA mir-200a gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1348162 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12167795 MIR200A microRNA mir-200a gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1348162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12167795 MIR200A microRNA mir-200a gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1348162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12167795 MIR200A microRNA mir-200a gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1348162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12167795 MIR200A microRNA mir-200a gene DOID:0110994 Joubert syndrome 25 ISO RGD:1348162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12167795 MIR200A microRNA mir-200a gene DOID:0111934 immunodeficiency 38 ISO RGD:1348162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12167795 MIR200A microRNA mir-200a gene DOID:0111935 immunodeficiency 16 ISO RGD:1348162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12167795 MIR200A microRNA mir-200a gene DOID:4989 pancreatitis ISO RGD:1348162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12167795 MIR200A microRNA mir-200a gene DOID:5082 liver cirrhosis ISO RGD:2325426 D RGD:9068941 20230105 RGD RNA:decreased expression:liver: PMID:32319630|REF_RGD_ID:155791681 12167795 MIR200A microRNA mir-200a gene DOID:9000096 Lung Agenesis ISO RGD:1348162 D RGD:9068941 20210813 CTD CTD Direct Evidence: marker/mechanism PMID:33048239 12167795 MIR200A microRNA mir-200a gene DOID:9001820 Pulmonary Arterial Hypertension treatment ISO RGD:2325426 D RGD:9068941 20230223 RGD PMID:30240970|REF_RGD_ID:156430315 12167795 MIR200A microRNA mir-200a gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12167795 MIR200A microRNA mir-200a gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1348162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12167795 MIR200A microRNA mir-200a gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1348162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12167795 MIR200A microRNA mir-200a gene DOID:9256 colorectal cancer ISO RGD:1348162 D RGD:9068941 20220929 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12167795 MIR200A microRNA mir-200a gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12167839 ADAMTSL1 ADAMTS like 1 gene DOID:630 genetic disease ISO RGD:1315056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167877 GSN gelsolin gene DOID:0050637 Finnish type amyloidosis ISO RGD:1346375 D RGD:7240710 20180130 OMIM 12167877 GSN gelsolin gene DOID:0050637 Finnish type amyloidosis ISO RGD:1346375 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Meretoja syndrome PMID:11754099|PMID:1311149|PMID:1315718|PMID:1322359|PMID:1322360|PMID:1338910|PMID:14640038|PMID:16199547|PMID:1652889|PMID:1658654|PMID:17576681|PMID:1849145|PMID:2175344|PMID:2176164|PMID:2176481|PMID:2176550|PMID:22622774|PMID:22938848|PMID:25342098|PMID:25601851|PMID:25741868|PMID:27982499|PMID:28492532|PMID:28924445|PMID:29069428|PMID:29167514|PMID:29637772|PMID:30625383|PMID:31243148|PMID:33598831|PMID:33973672|PMID:4543600|PMID:6610849|PMID:6975851|PMID:7550233|PMID:7868127|PMID:8388189|PMID:8395367|PMID:9536098 12167877 GSN gelsolin gene DOID:0060224 atrial fibrillation disease_progression ISO RGD:1550660 D RGD:9068941 20230427 RGD PMID:19669398|REF_RGD_ID:329333016 12167877 GSN gelsolin gene DOID:10591 pre-eclampsia disease_progression ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood plasma (human) PMID:24239294|REF_RGD_ID:329337339 12167877 GSN gelsolin gene DOID:11476 osteoporosis ISO RGD:1346375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12167877 GSN gelsolin gene DOID:1459 hypothyroidism ISO RGD:1303089 D RGD:9068941 20200609 RGD Protein:increased expression:cochlea PMID:2848627|REF_RGD_ID:1599872 12167877 GSN gelsolin gene DOID:3525 middle cerebral artery infarction ISO RGD:1550660 D RGD:9068941 20230427 RGD PMID:18234195|REF_RGD_ID:329333031 12167877 GSN gelsolin gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:1550660 D RGD:9068941 20230427 RGD PMID:9927495|REF_RGD_ID:329333033 12167877 GSN gelsolin gene DOID:3526 cerebral infarction severity ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood plasma (human) PMID:21481565|REF_RGD_ID:329337334 12167877 GSN gelsolin gene DOID:5844 myocardial infarction ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood serum (human) PMID:9142022|REF_RGD_ID:329333022 12167877 GSN gelsolin gene DOID:5844 myocardial infarction ameliorates ISO RGD:1303089 D RGD:9068941 20230427 RGD PMID:28622474|REF_RGD_ID:329333030 12167877 GSN gelsolin gene DOID:60001 pulmonary artery disease severity ISO RGD:1550660 D RGD:9068941 20230427 RGD associated with ischemia PMID:12654637|REF_RGD_ID:329333024 12167877 GSN gelsolin gene DOID:630 genetic disease ISO RGD:1346375 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11754099|PMID:1311149|PMID:1315718|PMID:1322359|PMID:1322360|PMID:14640038|PMID:1652889|PMID:1658654|PMID:17576681|PMID:1848334|PMID:2153578|PMID:2175344|PMID:2176164|PMID:2176481|PMID:2176550|PMID:25601851|PMID:25741868|PMID:27982499|PMID:28166811|PMID:28492532|PMID:28924445|PMID:29167514|PMID:29637772|PMID:4543600|PMID:6610849|PMID:6975851|PMID:7550233|PMID:7868127|PMID:8388189|PMID:9536098 12167877 GSN gelsolin gene DOID:630 genetic disease ISO RGD:1346375 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11754099|PMID:1311149|PMID:1315718|PMID:1322359|PMID:1322360|PMID:1338910|PMID:14640038|PMID:16199547|PMID:1652889|PMID:1658654|PMID:17576681|PMID:1849145|PMID:2175344|PMID:2176164|PMID:2176481|PMID:2176550|PMID:22622774|PMID:25342098|PMID:25601851|PMID:25741868|PMID:27982499|PMID:28492532|PMID:28924445|PMID:29167514|PMID:29637772|PMID:33973672|PMID:4543600|PMID:6610849|PMID:6975851|PMID:7550233|PMID:7868127|PMID:8388189|PMID:8395367|PMID:9536098 12167877 GSN gelsolin gene DOID:8481 rheumatic myocarditis ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood plasma (human) PMID:25403731|REF_RGD_ID:329333026 12167877 GSN gelsolin gene DOID:850 lung disease ISO RGD:1303089 D RGD:9068941 20200609 RGD Protein:increased expression:plasma PMID:2829631|REF_RGD_ID:1599873 12167877 GSN gelsolin gene DOID:9000438 Subarachnoid Hemorrhage disease_progression ISO RGD:1303089 D RGD:9068941 20230427 RGD mRNA, protein:altered expression:cerebral cortex (rat) PMID:25744577|REF_RGD_ID:11055426 12167877 GSN gelsolin gene DOID:9000438 Subarachnoid Hemorrhage severity ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood plasma (human) PMID:23880145|REF_RGD_ID:329333027 12167877 GSN gelsolin gene DOID:9000815 Aortic Calcification disease_progression ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood (human) PMID:26941566|REF_RGD_ID:329336117 12167877 GSN gelsolin gene DOID:9000895 Preterm Intraventricular Hemorrhage ISO RGD:1550660 D RGD:9068941 20230504 RGD protein:decreased expression:blood plasma (human) PMID:28755273|REF_RGD_ID:329337382 12167877 GSN gelsolin gene DOID:9000998 Brain Injuries ISO RGD:1303089 D RGD:9068941 20200609 RGD PMID:14588109|REF_RGD_ID:1599864 12167877 GSN gelsolin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1303089 D RGD:9068941 20200609 RGD mRNA, protein:increased expression PMID:14574581|REF_RGD_ID:1599866 12167877 GSN gelsolin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12167877 GSN gelsolin gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1346375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 12167877 GSN gelsolin gene DOID:9002599 Basal Ganglia Hemorrhage severity ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood plasma (human) PMID:23142649|REF_RGD_ID:329333032 12167877 GSN gelsolin gene DOID:9003121 Thromboembolism ameliorates ISO RGD:1346375 D RGD:9068941 20230427 RGD human gene in mouse model PMID:31002695|REF_RGD_ID:329333020 12167877 GSN gelsolin gene DOID:9003565 Paratuberculosis ISO RGD:1346375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22633222 12167877 GSN gelsolin gene DOID:9003566 Mesothelioma ISO RGD:1346375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15920167 12167877 GSN gelsolin gene DOID:9003646 Arterial Thrombosis ameliorates ISO RGD:1346375 D RGD:9068941 20230427 RGD human gene in mouse model PMID:31002695|REF_RGD_ID:329333020 12167877 GSN gelsolin gene DOID:9003676 Brain Hypoxia-Ischemia severity ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood plasma (human) PMID:29466895|REF_RGD_ID:329333029 12167877 GSN gelsolin gene DOID:9003936 Cardiomegaly ISO RGD:1346375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30240538 12167877 GSN gelsolin gene DOID:9003936 Cardiomegaly treatment ISO RGD:1303089 D RGD:9068941 20230427 RGD PMID:30240538|REF_RGD_ID:329333015 12167877 GSN gelsolin gene DOID:9004484 Sepsis ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood serum (human) PMID:9142022|REF_RGD_ID:329333022 12167877 GSN gelsolin gene DOID:9004492 Familial Amyloidosis ISO RGD:1346375 D RGD:9068941 20200609 RGD DNA:point mutation: ;654G>A PMID:2175344|REF_RGD_ID:1599858 12167877 GSN gelsolin gene DOID:9004590 Acute Liver Failure ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood serum (human) PMID:9142022|REF_RGD_ID:329333022 12167877 GSN gelsolin gene DOID:9004657 Weight Gain ISO RGD:1346375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12167877 GSN gelsolin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1303089 D RGD:9068941 20200609 RGD mRNA:decreased expression PMID:8895730|REF_RGD_ID:1599869 12167877 GSN gelsolin gene DOID:9006646 Metabolic Syndrome severity ISO RGD:1550660 D RGD:9068941 20230427 RGD PMID:29684438|REF_RGD_ID:329333017 12167877 GSN gelsolin gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:1550660 D RGD:9068941 20230427 RGD PMID:19246681|REF_RGD_ID:329333014 12167877 GSN gelsolin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 12167877 GSN gelsolin gene DOID:9008652 Postoperative Atrial Fibrillation susceptibility ISO RGD:1346375 D RGD:9068941 20230504 RGD DNA:SNP:: (rs2230287) (human) PMID:27923400|REF_RGD_ID:329337380 12167877 GSN gelsolin gene DOID:9120 amyloidosis ISO RGD:1346375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyloidosis PMID:25741868|PMID:28492532 12167877 GSN gelsolin gene DOID:9159 gas gangrene ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood serum (human) PMID:9142022|REF_RGD_ID:329333022 12167898 SELENBP1 selenium binding protein 1 gene DOID:0080422 Dravet syndrome ISO RGD:733754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 12167898 SELENBP1 selenium binding protein 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:733754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12167898 SELENBP1 selenium binding protein 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:733754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12167898 SELENBP1 selenium binding protein 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:733754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12167898 SELENBP1 selenium binding protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:733754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12167898 SELENBP1 selenium binding protein 1 gene DOID:1686 glaucoma ISO RGD:733754 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (human) PMID:28990066|REF_RGD_ID:155630605 12167898 SELENBP1 selenium binding protein 1 gene DOID:2468 psychotic disorder ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18163446 12167898 SELENBP1 selenium binding protein 1 gene DOID:299 adenocarcinoma ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14991897|PMID:15378696 12167898 SELENBP1 selenium binding protein 1 gene DOID:5419 schizophrenia ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16223876|PMID:18163446 12167898 SELENBP1 selenium binding protein 1 gene DOID:5812 MHC class II deficiency ISO RGD:733754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12167898 SELENBP1 selenium binding protein 1 gene DOID:630 genetic disease ISO RGD:733754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167898 SELENBP1 selenium binding protein 1 gene DOID:655 inherited metabolic disorder ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29255262 12167898 SELENBP1 selenium binding protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696|PMID:19424620 12167898 SELENBP1 selenium binding protein 1 gene DOID:9000977 Halitosis ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29255262 12167898 SELENBP1 selenium binding protein 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16380993|PMID:18272210 12167898 SELENBP1 selenium binding protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14991897 12167898 SELENBP1 selenium binding protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 12167898 SELENBP1 selenium binding protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18435490 12167898 SELENBP1 selenium binding protein 1 gene DOID:9009235 Extraoral Halitosis due to Methanethiol Oxidase Deficiency ISO RGD:733754 D RGD:7240710 20190315 OMIM 12167898 SELENBP1 selenium binding protein 1 gene DOID:9009235 Extraoral Halitosis due to Methanethiol Oxidase Deficiency ISO RGD:733754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Extraoral halitosis due to methanethiol oxidase deficiency PMID:25741868|PMID:29255262 12167898 SELENBP1 selenium binding protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12167914 TMEFF2 transmembrane protein with EGF like and two follistatin like domains 2 gene DOID:10283 prostate cancer ISO RGD:1318843 D RGD:9068941 20200609 RGD PMID:15299075|REF_RGD_ID:2290490 12167914 TMEFF2 transmembrane protein with EGF like and two follistatin like domains 2 gene DOID:10283 prostate cancer ISO RGD:1318843 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:16458425|REF_RGD_ID:2290486 12167914 TMEFF2 transmembrane protein with EGF like and two follistatin like domains 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:1318843 D RGD:9068941 20200609 RGD PMID:16500022|REF_RGD_ID:2290485 12167914 TMEFF2 transmembrane protein with EGF like and two follistatin like domains 2 gene DOID:11054 urinary bladder cancer ISO RGD:1318843 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:16234815|REF_RGD_ID:2290489 12167914 TMEFF2 transmembrane protein with EGF like and two follistatin like domains 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1318843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12167914 TMEFF2 transmembrane protein with EGF like and two follistatin like domains 2 gene DOID:630 genetic disease ISO RGD:1318843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167914 TMEFF2 transmembrane protein with EGF like and two follistatin like domains 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23405127 12167914 TMEFF2 transmembrane protein with EGF like and two follistatin like domains 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12167914 TMEFF2 transmembrane protein with EGF like and two follistatin like domains 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1318843 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:16234815|REF_RGD_ID:2290489 12167928 WWC1 WW and C2 domain containing 1 gene DOID:0111951 immunodeficiency 40 ISO RGD:1601880 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 12167928 WWC1 WW and C2 domain containing 1 gene DOID:1790 malignant mesothelioma ISO RGD:1601880 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12167928 WWC1 WW and C2 domain containing 1 gene DOID:630 genetic disease ISO RGD:1601880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12167973 PGM1 phosphoglucomutase 1 gene DOID:0080570 congenital disorder of glycosylation It ISO RGD:734179 D RGD:7240710 20180130 OMIM 12167973 PGM1 phosphoglucomutase 1 gene DOID:0080570 congenital disorder of glycosylation It ISO RGD:734179 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1t | ClinVar Annotator: match by term: Glycogen storage disease XIV PMID:16199547|PMID:17576681|PMID:19625727|PMID:22492991|PMID:22976764|PMID:24499211|PMID:25288802|PMID:25741868|PMID:26768186|PMID:27206562|PMID:28117557|PMID:28492532|PMID:28617415|PMID:29858906|PMID:30122451|PMID:33342467|PMID:33413482|PMID:33473337|PMID:34782754|PMID:9536098 12167973 PGM1 phosphoglucomutase 1 gene DOID:1059 intellectual disability ISO RGD:734179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12167973 PGM1 phosphoglucomutase 1 gene DOID:1380 endometrial cancer ISO RGD:734179 D RGD:9068941 20200609 RGD PMID:508567|REF_RGD_ID:2299870 12167973 PGM1 phosphoglucomutase 1 gene DOID:3307 teratoma ISO RGD:734179 D RGD:9068941 20200609 RGD PMID:5259759|REF_RGD_ID:2299871 12167973 PGM1 phosphoglucomutase 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:734179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:25741868|PMID:28492532 12167973 PGM1 phosphoglucomutase 1 gene DOID:630 genetic disease ISO RGD:734179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24499211|PMID:25741868|PMID:28117557|PMID:28492532|PMID:30122451 12167973 PGM1 phosphoglucomutase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:734179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12167973 PGM1 phosphoglucomutase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12167973 PGM1 phosphoglucomutase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:734179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 12167997 AMPD2 adenosine monophosphate deaminase 2 gene DOID:0050952 spastic ataxia ISO RGD:1346106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 12167997 AMPD2 adenosine monophosphate deaminase 2 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1346106 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia 12167997 AMPD2 adenosine monophosphate deaminase 2 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1346106 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia 12167997 AMPD2 adenosine monophosphate deaminase 2 gene DOID:0060278 pontocerebellar hypoplasia type 9 ISO RGD:1346106 D RGD:7240710 20180130 OMIM 12167997 AMPD2 adenosine monophosphate deaminase 2 gene DOID:0060278 pontocerebellar hypoplasia type 9 ISO RGD:1346106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 9 PMID:23911318|PMID:25741868|PMID:27066553|PMID:28492532|PMID:28815207|PMID:29463858|PMID:31130284|PMID:32214227 12167997 AMPD2 adenosine monophosphate deaminase 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1346106 D RGD:7240710 20180130 OMIM 12167997 AMPD2 adenosine monophosphate deaminase 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1346106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:16199547|PMID:17576681|PMID:23911318|PMID:24482476|PMID:25558065|PMID:25741868|PMID:27159321|PMID:28492532|PMID:28832565|PMID:29463858|PMID:31130284|PMID:31833174|PMID:32552793|PMID:9536098 12167997 AMPD2 adenosine monophosphate deaminase 2 gene DOID:1059 intellectual disability ISO RGD:1346106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12167997 AMPD2 adenosine monophosphate deaminase 2 gene DOID:10907 microcephaly ISO RGD:1346106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12167997 AMPD2 adenosine monophosphate deaminase 2 gene DOID:12849 autistic disorder ISO RGD:1346106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12167997 AMPD2 adenosine monophosphate deaminase 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1346106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28492532|PMID:28832565 12167997 AMPD2 adenosine monophosphate deaminase 2 gene DOID:630 genetic disease ISO RGD:1346106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12167997 AMPD2 adenosine monophosphate deaminase 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1346106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12167997 AMPD2 adenosine monophosphate deaminase 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1346106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:28492532|PMID:32552793 12168025 TRMU tRNA mitochondrial 2-thiouridylase gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1322577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12168025 TRMU tRNA mitochondrial 2-thiouridylase gene DOID:0080716 infantile liver failure syndrome ISO RGD:1322577 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:19732863|REF_RGD_ID:25440486 12168025 TRMU tRNA mitochondrial 2-thiouridylase gene DOID:0080778 transient infantile liver failure ISO RGD:1322577 D RGD:7240710 20180130 OMIM 12168025 TRMU tRNA mitochondrial 2-thiouridylase gene DOID:0080778 transient infantile liver failure ISO RGD:1322577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT PMID:16199547|PMID:17576681|PMID:19732863|PMID:21153446|PMID:21169334|PMID:21931168|PMID:23625533|PMID:25326635|PMID:25326637|PMID:25665837|PMID:25741868|PMID:26633542|PMID:28049726|PMID:28252636|PMID:28492532|PMID:28973083|PMID:30369941|PMID:30740308|PMID:31160058|PMID:33365252|PMID:33485800|PMID:8817331|PMID:9536098 12168025 TRMU tRNA mitochondrial 2-thiouridylase gene DOID:0111734 aminoglycoside-induced deafness ISO RGD:1322577 D RGD:7240710 20180130 OMIM 12168025 TRMU tRNA mitochondrial 2-thiouridylase gene DOID:0111734 aminoglycoside-induced deafness ISO RGD:1322577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aminoglycoside-induced deafness | ClinVar Annotator: match by term: Deafness, mitochondrial, modifier of PMID:16199547|PMID:19732863|PMID:21931168|PMID:23625533|PMID:25665837|PMID:25741868|PMID:28049726|PMID:28492532|PMID:31160058|PMID:8817331 12168025 TRMU tRNA mitochondrial 2-thiouridylase gene DOID:1059 intellectual disability ISO RGD:1322577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12168025 TRMU tRNA mitochondrial 2-thiouridylase gene DOID:2843 long QT syndrome ISO RGD:1322577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12168025 TRMU tRNA mitochondrial 2-thiouridylase gene DOID:409 liver disease ISO RGD:1619985 D RGD:9068941 20220825 MouseDO 12168025 TRMU tRNA mitochondrial 2-thiouridylase gene DOID:630 genetic disease ISO RGD:1322577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19732863|PMID:21931168|PMID:23625533|PMID:25326635|PMID:25665837|PMID:25741868|PMID:28492532|PMID:28973083|PMID:31160058 12168025 TRMU tRNA mitochondrial 2-thiouridylase gene DOID:9004212 Mitochondrial Myopathy, Lethal Infantile ISO RGD:1322577 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:23625533|REF_RGD_ID:21066346 12168044 USP45 ubiquitin specific peptidase 45 gene DOID:0081169 Leber congenital amaurosis 19 ISO RGD:1322181 D RGD:7240710 20190814 OMIM 12168044 USP45 ubiquitin specific peptidase 45 gene DOID:0081169 Leber congenital amaurosis 19 ISO RGD:1322181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 19 PMID:25741868|PMID:30573563 12168044 USP45 ubiquitin specific peptidase 45 gene DOID:630 genetic disease ISO RGD:1322181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168044 USP45 ubiquitin specific peptidase 45 gene DOID:9007661 Dwarfism ISO RGD:1322181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12168072 DUSP8 dual specificity phosphatase 8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12168072 DUSP8 dual specificity phosphatase 8 gene DOID:0080773 delta beta-thalassemia ISO RGD:1315032 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12168072 DUSP8 dual specificity phosphatase 8 gene DOID:0111969 immunodeficiency 39 ISO RGD:1315032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12168072 DUSP8 dual specificity phosphatase 8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12168072 DUSP8 dual specificity phosphatase 8 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1315032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12168072 DUSP8 dual specificity phosphatase 8 gene DOID:630 genetic disease ISO RGD:1315032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168072 DUSP8 dual specificity phosphatase 8 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1315032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12168083 DIRAS2 DIRAS family GTPase 2 gene DOID:630 genetic disease ISO RGD:1313693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168092 ZNF333 zinc finger protein 333 gene DOID:630 genetic disease ISO RGD:1352601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168105 NOL4L nucleolar protein 4 like gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1348785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency PMID:28492532 12168105 NOL4L nucleolar protein 4 like gene DOID:630 genetic disease ISO RGD:1348785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168118 GPR55 G protein-coupled receptor 55 gene DOID:0060476 Perlman syndrome ISO RGD:1348516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12168118 GPR55 G protein-coupled receptor 55 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1348516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12168118 GPR55 G protein-coupled receptor 55 gene DOID:10283 prostate cancer ISO RGD:1348516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12168118 GPR55 G protein-coupled receptor 55 gene DOID:14566 disease of cellular proliferation ISO RGD:1348516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27423937 12168118 GPR55 G protein-coupled receptor 55 gene DOID:4195 hyperglycemia ISO RGD:1348516 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:30148676 12168118 GPR55 G protein-coupled receptor 55 gene DOID:630 genetic disease ISO RGD:1348516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168118 GPR55 G protein-coupled receptor 55 gene DOID:9004657 Weight Gain ISO RGD:1348516 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:30148676 12168118 GPR55 G protein-coupled receptor 55 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1348516 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:30148676 12168136 TIGAR TP53 induced glycolysis regulatory phosphatase gene DOID:0050989 episodic ataxia type 1 ISO RGD:1317526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 12168136 TIGAR TP53 induced glycolysis regulatory phosphatase gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1317526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12168136 TIGAR TP53 induced glycolysis regulatory phosphatase gene DOID:630 genetic disease ISO RGD:1317526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168136 TIGAR TP53 induced glycolysis regulatory phosphatase gene DOID:9002955 Nerve Degeneration ISO RGD:1317526 D RGD:9068941 20210604 CTD CTD Direct Evidence: therapeutic PMID:33359019 12168136 TIGAR TP53 induced glycolysis regulatory phosphatase gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1317526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12168146 PLEKHA3 pleckstrin homology domain containing A3 gene DOID:0090048 dystonia 16 ISO RGD:1313158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 16 PMID:28492532 12168146 PLEKHA3 pleckstrin homology domain containing A3 gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1313158 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:18948003|PMID:21681106|PMID:22335739|PMID:23975875|PMID:24395473|PMID:25589632|PMID:28492532|PMID:30557390 12168146 PLEKHA3 pleckstrin homology domain containing A3 gene DOID:630 genetic disease ISO RGD:1313158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168158 NCSTN nicastrin gene DOID:0060178 familial hemiplegic migraine ISO RGD:1351739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 12168158 NCSTN nicastrin gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1351739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:28492532 12168158 NCSTN nicastrin gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1351739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12168158 NCSTN nicastrin gene DOID:0081292 traumatic brain injury ISO RGD:1551174 D RGD:9068941 20200609 RGD PMID:18240300|REF_RGD_ID:13801189 12168158 NCSTN nicastrin gene DOID:10652 Alzheimer's disease ISO RGD:1351739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 12168158 NCSTN nicastrin gene DOID:10652 Alzheimer's disease ISO RGD:1351739 D RGD:9068941 20200609 RGD PMID:23595812|REF_RGD_ID:13801187 12168158 NCSTN nicastrin gene DOID:10652 Alzheimer's disease ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-922G>T (rs10752637) (human) PMID:19840113|REF_RGD_ID:13801048 12168158 NCSTN nicastrin gene DOID:10652 Alzheimer's disease ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-796T>G, -1216C>A (human) PMID:19394408|REF_RGD_ID:13801050 12168158 NCSTN nicastrin gene DOID:10652 Alzheimer's disease ISO RGD:1351739 D RGD:9068941 20200609 RGD protein:increased modification:brain PMID:22404891|REF_RGD_ID:13801051 12168158 NCSTN nicastrin gene DOID:10652 Alzheimer's disease no_association ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-436C>T (human) PMID:19394408|REF_RGD_ID:13801050 12168158 NCSTN nicastrin gene DOID:10652 Alzheimer's disease no_association ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-796T>G, -1216C>A (human) PMID:15157994|REF_RGD_ID:13801049 12168158 NCSTN nicastrin gene DOID:10652 Alzheimer's disease no_association ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:missense mutation, SNPs:exon, intron, 3' utr:multiple PMID:14642438|REF_RGD_ID:13801188 12168158 NCSTN nicastrin gene DOID:10652 Alzheimer's disease no_association ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:missense mutation: :417N>Y (human) PMID:11992262|REF_RGD_ID:13801052 12168158 NCSTN nicastrin gene DOID:10652 Alzheimer's disease onset ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:introns:multiple PMID:11992262|REF_RGD_ID:13801052 12168158 NCSTN nicastrin gene DOID:11054 urinary bladder cancer ISO RGD:1551174 D RGD:9068941 20220825 MouseDO OMIM:109800 12168158 NCSTN nicastrin gene DOID:1540 parathyroid carcinoma ISO RGD:1351739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12168158 NCSTN nicastrin gene DOID:5419 schizophrenia ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:rs1802778 (human) PMID:27008863|REF_RGD_ID:11536124 12168158 NCSTN nicastrin gene DOID:5419 schizophrenia ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:missense mutation: :417N>Y (human) PMID:21364883|REF_RGD_ID:13801053 12168158 NCSTN nicastrin gene DOID:5419 schizophrenia ISO RGD:1551174 D RGD:9068941 20200609 RGD PMID:27008863|REF_RGD_ID:11536124 12168158 NCSTN nicastrin gene DOID:5419 schizophrenia ISO RGD:1551174 D RGD:9068941 20220825 MouseDO OMIM:181500 12168158 NCSTN nicastrin gene DOID:5419 schizophrenia no_association ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:21364883|PMID:27008863|REF_RGD_ID:11536124|REF_RGD_ID:13801053 12168158 NCSTN nicastrin gene DOID:630 genetic disease ISO RGD:1351739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12168158 NCSTN nicastrin gene DOID:8552 chronic myeloid leukemia ISO RGD:1551174 D RGD:9068941 20220825 MouseDO OMIM:608232 12168158 NCSTN nicastrin gene DOID:9003136 Familial Acne Inversa 1 ISO RGD:1351739 D RGD:7240710 20210721 OMIM 12168158 NCSTN nicastrin gene DOID:9003136 Familial Acne Inversa 1 ISO RGD:1351739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acne inversa, familial, 1 PMID:20929727|PMID:21412258|PMID:22358060|PMID:25693063|PMID:25741868|PMID:28492532|PMID:32926179 12168158 NCSTN nicastrin gene DOID:9008895 Familial Hidradenitis Suppurativa ISO RGD:1351739 D RGD:9068941 20210723 CTD CTD Direct Evidence: marker/mechanism PMID:20929727 12168158 NCSTN nicastrin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12168177 THUMPD1 THUMP domain containing 1 gene DOID:630 genetic disease ISO RGD:1318865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168177 THUMPD1 THUMP domain containing 1 gene DOID:9004131 NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES ISO RGD:1318865 D RGD:7240710 20221221 OMIM 12168177 THUMPD1 THUMP domain containing 1 gene DOID:9004131 NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES ISO RGD:1318865 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with speech delay and variable ocular anomalies PMID:25741868|PMID:30237576|PMID:35196516 12168177 THUMPD1 THUMP domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318865 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30237576|PMID:35196516 12168185 TELO2 telomere maintenance 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1605097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12168185 TELO2 telomere maintenance 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605097 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532|PMID:29688594 12168185 TELO2 telomere maintenance 2 gene DOID:10907 microcephaly ISO RGD:1605097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12168185 TELO2 telomere maintenance 2 gene DOID:1826 epilepsy ISO RGD:1605097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12168185 TELO2 telomere maintenance 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12168185 TELO2 telomere maintenance 2 gene DOID:630 genetic disease ISO RGD:1605097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12168185 TELO2 telomere maintenance 2 gene DOID:9008826 YOU-HOOVER-FONG SYNDROME ISO RGD:1605097 D RGD:7240710 20190315 OMIM 12168185 TELO2 telomere maintenance 2 gene DOID:9008826 YOU-HOOVER-FONG SYNDROME ISO RGD:1605097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TELO2-related intellectual disability-neurodevelopmental disorder PMID:24033266|PMID:25741868|PMID:27132593|PMID:28492532|PMID:32940098 12168217 RNPC3 RNA binding region (RNP1, RRM) containing 3 gene DOID:0060870 isolated growth hormone deficiency ISO RGD:1350307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Growth hormone deficiency PMID:24480542|PMID:29255062 12168217 RNPC3 RNA binding region (RNP1, RRM) containing 3 gene DOID:0111510 Marshall syndrome ISO RGD:1350307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marshall syndrome PMID:25741868 12168217 RNPC3 RNA binding region (RNP1, RRM) containing 3 gene DOID:12849 autistic disorder ISO RGD:1350307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12168217 RNPC3 RNA binding region (RNP1, RRM) containing 3 gene DOID:1826 epilepsy ISO RGD:1350307 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12168217 RNPC3 RNA binding region (RNP1, RRM) containing 3 gene DOID:630 genetic disease ISO RGD:1350307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168217 RNPC3 RNA binding region (RNP1, RRM) containing 3 gene DOID:9009240 Isolated Growth Hormone Deficiency Type V ISO RGD:1350307 D RGD:7240710 20190315 OMIM 12168217 RNPC3 RNA binding region (RNP1, RRM) containing 3 gene DOID:9009240 Isolated Growth Hormone Deficiency Type V ISO RGD:1350307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 7 PMID:24480542|PMID:25741868|PMID:29255062|PMID:32462814|PMID:33650182 12168250 CAMK1G calcium/calmodulin dependent protein kinase IG gene DOID:1540 parathyroid carcinoma ISO RGD:732495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12168250 CAMK1G calcium/calmodulin dependent protein kinase IG gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23624525 12168250 CAMK1G calcium/calmodulin dependent protein kinase IG gene DOID:630 genetic disease ISO RGD:732495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168250 CAMK1G calcium/calmodulin dependent protein kinase IG gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12168267 GATAD2B GATA zinc finger domain containing 2B gene DOID:0060041 autism spectrum disorder ISO RGD:1606527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12168267 GATAD2B GATA zinc finger domain containing 2B gene DOID:0060368 Parkinson's disease 2 ISO RGD:1606527 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 PMID:25741868|PMID:28492532 12168267 GATAD2B GATA zinc finger domain containing 2B gene DOID:0070048 GAND syndrome ISO RGD:1606527 D RGD:7240710 20180130 OMIM 12168267 GATAD2B GATA zinc finger domain containing 2B gene DOID:0070048 GAND syndrome ISO RGD:1606527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GAND SYNDROME | ClinVar Annotator: match by term: GATAD2B-Related Disorder PMID:21681106|PMID:23033978|PMID:25356899|PMID:25741868|PMID:27159321|PMID:28077840|PMID:28135719|PMID:28191890|PMID:28492532|PMID:30346093|PMID:31205050|PMID:31949314|PMID:32688057 12168267 GATAD2B GATA zinc finger domain containing 2B gene DOID:0111940 immunodeficiency 42 ISO RGD:1606527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12168267 GATAD2B GATA zinc finger domain containing 2B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12168267 GATAD2B GATA zinc finger domain containing 2B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12168267 GATAD2B GATA zinc finger domain containing 2B gene DOID:1059 intellectual disability ISO RGD:1606527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23033978|PMID:25356899|PMID:25741868|PMID:27159321|PMID:28492532|PMID:32688057 12168267 GATAD2B GATA zinc finger domain containing 2B gene DOID:1540 parathyroid carcinoma ISO RGD:1606527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12168267 GATAD2B GATA zinc finger domain containing 2B gene DOID:5812 MHC class II deficiency ISO RGD:1606527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12168267 GATAD2B GATA zinc finger domain containing 2B gene DOID:630 genetic disease ISO RGD:1606527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23033978|PMID:25741868|PMID:25954003|PMID:27618451|PMID:28077840|PMID:28135719|PMID:28191890|PMID:28490743|PMID:28492532|PMID:32688057 12168267 GATAD2B GATA zinc finger domain containing 2B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12168286 EXD2 exonuclease 3'-5' domain containing 2 gene DOID:630 genetic disease ISO RGD:1322357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168301 PDK2 pyruvate dehydrogenase kinase 2 gene DOID:0050700 cardiomyopathy ISO RGD:69481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21037199 12168301 PDK2 pyruvate dehydrogenase kinase 2 gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:69481 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:23949819|PMID:25944380|PMID:26478226|PMID:28492532|PMID:7942841|PMID:9295084|PMID:9443882 12168301 PDK2 pyruvate dehydrogenase kinase 2 gene DOID:630 genetic disease ISO RGD:69481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168326 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:731628 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12168326 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0050476 Barth syndrome ISO RGD:731628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12168326 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0050800 creatine transporter deficiency ISO RGD:731628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12168326 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0050891 adrenal cortical adenoma ISO RGD:731628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aldosterone-producing adrenal cortex adenoma PMID:23416519 12168326 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0050952 spastic ataxia ISO RGD:731628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 12168326 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12168326 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:731628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12168326 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:731628 D RGD:7240710 20180130 OMIM 12168326 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:731628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: X-linked progressive cerebellar ataxia PMID:10797423|PMID:22912398|PMID:25326635|PMID:25741868|PMID:26633542|PMID:27435318|PMID:27632770|PMID:27653636|PMID:28492532 12168326 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0111861 Meester-Loeys syndrome ISO RGD:731628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meester-Loeys syndrome PMID:27632686 12168326 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:731628 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12168326 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:10588 adrenoleukodystrophy ISO RGD:731628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12168326 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:10763 hypertension ISO RGD:731628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23416519 12168326 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:731628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12168326 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:12849 autistic disorder ISO RGD:731628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12168326 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:13628 favism ISO RGD:731628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12168326 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:27632686 12168326 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:2729 dyskeratosis congenita ISO RGD:731628 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12168326 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:446 primary hyperaldosteronism ISO RGD:731628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23416519 12168326 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:607 paraplegia ISO RGD:731628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12168326 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:630 genetic disease ISO RGD:731628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10797423|PMID:22912398|PMID:25741868|PMID:27632770|PMID:27653636|PMID:28492532 12168326 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:657 adenoma ISO RGD:731628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23416519 12168326 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:9000495 Tremor ISO RGD:621304 D RGD:9068941 20200609 RGD PMID:27013529|REF_RGD_ID:13825260 12168326 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:9002720 Splenomegaly ISO RGD:731628 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12168326 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:9005603 Muscle Hypotonia ISO RGD:731628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:25741868 12168326 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:9008086 Developmental Disabilities ISO RGD:731628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12168359 C33H3orf38 chromosome 33 C3orf38 homolog gene DOID:630 genetic disease ISO RGD:1602632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168368 EVA1B eva-1 homolog B gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1602695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12168368 EVA1B eva-1 homolog B gene DOID:630 genetic disease ISO RGD:1602695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168375 ENTREP1 endosomal transmembrane epsin interactor 1 gene DOID:10283 prostate cancer ISO RGD:1316770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12168375 ENTREP1 endosomal transmembrane epsin interactor 1 gene DOID:630 genetic disease ISO RGD:1316770 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168393 CA10 carbonic anhydrase 10 gene DOID:630 genetic disease ISO RGD:1352724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168406 ITPRIP inositol 1,4,5-trisphosphate receptor interacting protein gene DOID:630 genetic disease ISO RGD:1344498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168444 AHNAK2 AHNAK nucleoprotein 2 gene DOID:0050753 cerebellar ataxia ISO RGD:1320178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmetria 12168444 AHNAK2 AHNAK nucleoprotein 2 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1320178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12168444 AHNAK2 AHNAK nucleoprotein 2 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1320178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 12168444 AHNAK2 AHNAK nucleoprotein 2 gene DOID:630 genetic disease ISO RGD:1320178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168456 PLAC1 placenta enriched 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12168456 PLAC1 placenta enriched 1 gene DOID:12849 autistic disorder ISO RGD:1351974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12168456 PLAC1 placenta enriched 1 gene DOID:630 genetic disease ISO RGD:1351974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168493 TLK1 tousled like kinase 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1321237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12168493 TLK1 tousled like kinase 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1321237 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12168493 TLK1 tousled like kinase 1 gene DOID:630 genetic disease ISO RGD:1321237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168493 TLK1 tousled like kinase 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1321237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17481512 12168564 LOC106558903 glycine-rich cell wall structural protein 1-like gene DOID:1749 squamous cell carcinoma ISO RGD:5683682 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34652879 12168564 LOC106558903 glycine-rich cell wall structural protein 1-like gene DOID:9002170 Experimental Neoplasms ISO RGD:5683682 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34652879 12168564 LOC106558903 glycine-rich cell wall structural protein 1-like gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:5683682 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34652879 12168564 LOC106558903 glycine-rich cell wall structural protein 1-like gene DOID:9004575 Neoplasm Invasiveness ISO RGD:5683682 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34652879 12168599 LOC106558942 zinc finger protein 773-like gene DOID:630 genetic disease ISO RGD:1605527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168621 SLC17A5 solute carrier family 17 member 5 gene DOID:0050450 Gitelman syndrome ISO RGD:1322823 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria PMID:25741868|PMID:28492532 12168621 SLC17A5 solute carrier family 17 member 5 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1322823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:25741868|PMID:28492532|PMID:29140481 12168621 SLC17A5 solute carrier family 17 member 5 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1322823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:25741868|PMID:28492532|PMID:29140481 12168621 SLC17A5 solute carrier family 17 member 5 gene DOID:1909 melanoma ISO RGD:1322823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 12168621 SLC17A5 solute carrier family 17 member 5 gene DOID:3211 lysosomal storage disease ISO RGD:1322824 D RGD:9068941 20220825 MouseDO 12168621 SLC17A5 solute carrier family 17 member 5 gene DOID:3659 sialuria ISO RGD:1322823 D RGD:7240710 20180130 OMIM 12168621 SLC17A5 solute carrier family 17 member 5 gene DOID:3659 sialuria ISO RGD:1322823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialic acid storage disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type PMID:10069709|PMID:10581036|PMID:10947946|PMID:11992753|PMID:12121352|PMID:12359136|PMID:12592494|PMID:12637289|PMID:12709150|PMID:12794687|PMID:12794688|PMID:15172001|PMID:15172005|PMID:15510212|PMID:15516337|PMID:15805149|PMID:16170568|PMID:16199547|PMID:16715535|PMID:17576681|PMID:17933575|PMID:18399798|PMID:18695252|PMID:19557856|PMID:19763152|PMID:20101035|PMID:2010546|PMID:20301643|PMID:20307669|PMID:21781115|PMID:22406018|PMID:2334213|PMID:23900835|PMID:24767253|PMID:24993898|PMID:25085675|PMID:25525159|PMID:25640679|PMID:25741868|PMID:27848944|PMID:28166811|PMID:28492532|PMID:28662915|PMID:28771251|PMID:29140481|PMID:9536098 12168621 SLC17A5 solute carrier family 17 member 5 gene DOID:3659 sialuria ISO RGD:1322823 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria, Finnish type PMID:10069709|PMID:10546100|PMID:10581036|PMID:10947946|PMID:11992753|PMID:12121352|PMID:12359136|PMID:12592494|PMID:12637289|PMID:12709150|PMID:12794687|PMID:12794688|PMID:15172001|PMID:15172005|PMID:15510212|PMID:15516337|PMID:15805149|PMID:16170568|PMID:16199547|PMID:16715535|PMID:17576681|PMID:17933575|PMID:18399798|PMID:18695252|PMID:19557856|PMID:19763152|PMID:20101035|PMID:2010546|PMID:20301643|PMID:20307669|PMID:21781115|PMID:22406018|PMID:2334213|PMID:23900835|PMID:24767253|PMID:24993898|PMID:25085675|PMID:25525159|PMID:25640679|PMID:25741868|PMID:27848944|PMID:28492532|PMID:28662915|PMID:28771251|PMID:29140481|PMID:9536098 12168621 SLC17A5 solute carrier family 17 member 5 gene DOID:3659 sialuria ISO RGD:1322823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria, Finnish type PMID:10069709|PMID:10546100|PMID:10581036|PMID:10947946|PMID:11992753|PMID:12121352|PMID:12359136|PMID:12592494|PMID:12637289|PMID:12709150|PMID:12794687|PMID:12794688|PMID:15172001|PMID:15172005|PMID:15510212|PMID:15516337|PMID:15805149|PMID:16170568|PMID:16199547|PMID:16715535|PMID:17576681|PMID:17933575|PMID:18399798|PMID:18695252|PMID:19557856|PMID:19763152|PMID:20101035|PMID:2010546|PMID:20301643|PMID:20307669|PMID:21781115|PMID:22406018|PMID:2334213|PMID:23900835|PMID:24767253|PMID:24993898|PMID:25085675|PMID:25525159|PMID:25640679|PMID:25741868|PMID:27848944|PMID:28492532|PMID:28662915|PMID:28771251|PMID:29140481|PMID:29654786|PMID:30243016|PMID:31130284|PMID:9536098 12168621 SLC17A5 solute carrier family 17 member 5 gene DOID:630 genetic disease ISO RGD:1322823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24767253|PMID:24993898|PMID:25741868|PMID:28492532|PMID:29140481 12168621 SLC17A5 solute carrier family 17 member 5 gene DOID:9000742 Free Sialic Acid Storage Disease ISO RGD:1322823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: N-acetylneuraminic acid (NANA) storage disease (NSD) PMID:10069709|PMID:10546100|PMID:10581036|PMID:10947946|PMID:11992753|PMID:12121352|PMID:12359136|PMID:12709150|PMID:12794687|PMID:12794688|PMID:15172001|PMID:15510212|PMID:15516337|PMID:15805149|PMID:16170568|PMID:16199547|PMID:18399798|PMID:18695252|PMID:19557856|PMID:2010546|PMID:20301643|PMID:21781115|PMID:2334213|PMID:24767253|PMID:24993898|PMID:25741868|PMID:27848944|PMID:28492532|PMID:28662915|PMID:29140481|PMID:31130284 12168621 SLC17A5 solute carrier family 17 member 5 gene DOID:9003820 Infantile Sialic Storage Disease ISO RGD:1322823 D RGD:7240710 20180207 OMIM 12168621 SLC17A5 solute carrier family 17 member 5 gene DOID:9003820 Infantile Sialic Storage Disease ISO RGD:1322823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile sialic acid storage disorder (ISSD) | ClinVar Annotator: match by term: N-Acetylneuraminic acid storage disease | ClinVar Annotator: match by term: NANA STORAGE DISEASE PMID:10069709|PMID:10546100|PMID:10581036|PMID:10947946|PMID:11992753|PMID:12121352|PMID:12359136|PMID:12709150|PMID:12794687|PMID:12794688|PMID:15172001|PMID:15510212|PMID:15516337|PMID:15805149|PMID:16170568|PMID:16199547|PMID:18399798|PMID:18695252|PMID:19557856|PMID:2010546|PMID:20301643|PMID:21781115|PMID:2334213|PMID:24767253|PMID:24993898|PMID:25741868|PMID:27848944|PMID:28492532|PMID:28662915|PMID:29140481|PMID:31130284|PMID:7151835|PMID:7573152 12168638 HEMK1 HemK methyltransferase family member 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12168638 HEMK1 HemK methyltransferase family member 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12168638 HEMK1 HemK methyltransferase family member 1 gene DOID:630 genetic disease ISO RGD:1343848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168669 WDR72 WD repeat domain 72 gene DOID:0110056 amelogenesis imperfecta type 1C ISO RGD:1602418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive PMID:25741868 12168669 WDR72 WD repeat domain 72 gene DOID:0110061 amelogenesis imperfecta hypomaturation type 2A3 ISO RGD:1602418 D RGD:7240710 20180130 OMIM 12168669 WDR72 WD repeat domain 72 gene DOID:0110061 amelogenesis imperfecta hypomaturation type 2A3 ISO RGD:1602418 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3 PMID:19853237|PMID:20938048|PMID:24033266|PMID:25741868|PMID:30028003 12168669 WDR72 WD repeat domain 72 gene DOID:14219 renal tubular acidosis ISO RGD:1602418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:31959358 12168669 WDR72 WD repeat domain 72 gene DOID:2187 amelogenesis imperfecta ISO RGD:1602418 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta PMID:24033266|PMID:25741868 12168669 WDR72 WD repeat domain 72 gene DOID:2717 Bloom syndrome ISO RGD:1602418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12168669 WDR72 WD repeat domain 72 gene DOID:607 paraplegia ISO RGD:1602418 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 12168669 WDR72 WD repeat domain 72 gene DOID:630 genetic disease ISO RGD:1602418 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12168669 WDR72 WD repeat domain 72 gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:1602418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:31959358 12168669 WDR72 WD repeat domain 72 gene DOID:9007406 Distal Renal Tubular Acidosis ISO RGD:1602418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:31959358 12168669 WDR72 WD repeat domain 72 gene DOID:9007818 Distal Renal Tubular Acidosis 4 with Hemolytic Anemia ISO RGD:1602418 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia PMID:25741868|PMID:30028003 12168669 WDR72 WD repeat domain 72 gene DOID:9256 colorectal cancer ISO RGD:1602418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12168713 GOLPH3 golgi phosphoprotein 3 gene DOID:630 genetic disease ISO RGD:1349293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168713 GOLPH3 golgi phosphoprotein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12168713 GOLPH3 golgi phosphoprotein 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1349293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12168763 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:0050424 familial adenomatous polyposis ISO RGD:734270 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17559352 12168763 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:734270 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12168763 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:0080361 trimethylaminuria ISO RGD:734270 D RGD:7240710 20180130 OMIM 12168763 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:0080361 trimethylaminuria ISO RGD:734270 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Trimethylaminuria PMID:10338091|PMID:10479479|PMID:10898113|PMID:11136294|PMID:11191884|PMID:11266081|PMID:12228178|PMID:12527699|PMID:12678693|PMID:12814961|PMID:12893987|PMID:12938085|PMID:15203093|PMID:15618671|PMID:16296944|PMID:16600650|PMID:16601883|PMID:17096187|PMID:17224546|PMID:17329912|PMID:17531949|PMID:18028028|PMID:18423897|PMID:19321370|PMID:19577495|PMID:20301282|PMID:21422137|PMID:21451776|PMID:22819296|PMID:23567996|PMID:23791655|PMID:25741868|PMID:25870212|PMID:27118741|PMID:28196478|PMID:28392825|PMID:28492532|PMID:28649550|PMID:28743400|PMID:29555771|PMID:31180159|PMID:31240165|PMID:31589614|PMID:31980526|PMID:33831674|PMID:8401051|PMID:9282831|PMID:9398858|PMID:9536088|PMID:987532 12168763 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:10763 hypertension ISO RGD:734270 D RGD:9068941 20200609 RGD DNA:nonsense mutation:CDS:amino acid E305X, associated with trimethylaminuria, OMIM:602079 PMID:9536088|REF_RGD_ID:1626461 12168763 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:10763 hypertension no_association ISO RGD:734270 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:no association with any of the four common genotypes or haplotypes in a Caucasian population PMID:16324215|REF_RGD_ID:1626466 12168763 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:1540 parathyroid carcinoma ISO RGD:734270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12168763 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:630 genetic disease ISO RGD:734270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168763 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:655 inherited metabolic disorder ISO RGD:734270 D RGD:9068941 20200609 RGD trimethylaminuria, OMIM:602079; DNA:nonsense mutation:CDS:amino acid E305X PMID:9536088|REF_RGD_ID:1626461 12168763 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734270 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24973094 12168763 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:734270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12168763 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12168776 EGF epidermal growth factor gene DOID:0050782 Zollinger-Ellison syndrome ISO RGD:736832 D RGD:9068941 20200609 RGD protein:increased expression:saliva PMID:10811321|REF_RGD_ID:2317668 12168776 EGF epidermal growth factor gene DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ISO RGD:736832 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:24119107|REF_RGD_ID:10059681 12168776 EGF epidermal growth factor gene DOID:0060071 pre-malignant neoplasm ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26390243 12168776 EGF epidermal growth factor gene DOID:0060879 primary hypomagnesemia ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:17671655|REF_RGD_ID:6906911 12168776 EGF epidermal growth factor gene DOID:0060880 renal hypomagnesemia 3 ISO RGD:736832 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive PMID:28492532 12168776 EGF epidermal growth factor gene DOID:0060881 renal hypomagnesemia 5 with ocular involvement ISO RGD:736832 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive PMID:28492532 12168776 EGF epidermal growth factor gene DOID:0060882 renal hypomagnesemia 4 ISO RGD:736832 D RGD:7240710 20180130 OMIM 12168776 EGF epidermal growth factor gene DOID:0060882 renal hypomagnesemia 4 ISO RGD:736832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 4 PMID:17576681|PMID:17671655|PMID:25741868|PMID:28492532|PMID:9536098 12168776 EGF epidermal growth factor gene DOID:0080162 lupus nephritis ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:21354048|REF_RGD_ID:5688301 12168776 EGF epidermal growth factor gene DOID:10652 Alzheimer's disease ISO RGD:736832 D RGD:9068941 20200609 RGD protein:decreased expression:platelet PMID:21875409|REF_RGD_ID:10059680 12168776 EGF epidermal growth factor gene DOID:10808 gastric ulcer ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9324159|PMID:9479624 12168776 EGF epidermal growth factor gene DOID:12385 shigellosis treatment ISO RGD:10510 D RGD:9068941 20201022 RGD PMID:30615126|REF_RGD_ID:39938959 12168776 EGF epidermal growth factor gene DOID:12849 autistic disorder ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17626784 12168776 EGF epidermal growth factor gene DOID:1380 endometrial cancer severity ISO RGD:736832 D RGD:9068941 20200609 RGD DNA:snps:5'utr:multiple (human) PMID:19319135|REF_RGD_ID:13673915 12168776 EGF epidermal growth factor gene DOID:14330 Parkinson's disease disease_progression ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:21520231|REF_RGD_ID:10059679 12168776 EGF epidermal growth factor gene DOID:1793 pancreatic cancer disease_progression ISO RGD:736832 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:1347773|REF_RGD_ID:2317650 12168776 EGF epidermal growth factor gene DOID:2394 ovarian cancer ISO RGD:736832 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:22914212|REF_RGD_ID:13673914 12168776 EGF epidermal growth factor gene DOID:2723 dermatitis ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27206134 12168776 EGF epidermal growth factor gene DOID:299 adenocarcinoma ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23064031 12168776 EGF epidermal growth factor gene DOID:3021 acute kidney failure ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:20482449|REF_RGD_ID:6906908 12168776 EGF epidermal growth factor gene DOID:3068 glioblastoma ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16598420 12168776 EGF epidermal growth factor gene DOID:3068 glioblastoma susceptibility ISO RGD:736832 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:+61A>G(human) PMID:22481252|REF_RGD_ID:13702472 12168776 EGF epidermal growth factor gene DOID:3070 high grade glioma susceptibility ISO RGD:736832 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:+61A>G(human) PMID:22106858|REF_RGD_ID:13702473 12168776 EGF epidermal growth factor gene DOID:3070 high grade glioma susceptibility ISO RGD:736832 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:GG genotypes were associated with increased risk. PMID:17473192|REF_RGD_ID:13702474 12168776 EGF epidermal growth factor gene DOID:3121 gallbladder cancer ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:8093356|REF_RGD_ID:2317646 12168776 EGF epidermal growth factor gene DOID:3121 gallbladder cancer susceptibility ISO RGD:736832 D RGD:9068941 20200609 RGD DNA:SNP: :+61A>G (rs4444903)(human) PMID:18571008|REF_RGD_ID:2317641 12168776 EGF epidermal growth factor gene DOID:3181 oligodendroglioma susceptibility ISO RGD:736832 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:GG genotypes were associated with increased risk. PMID:17473192|REF_RGD_ID:13702474 12168776 EGF epidermal growth factor gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:736832 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:18505086|REF_RGD_ID:2317644 12168776 EGF epidermal growth factor gene DOID:3770 pulmonary fibrosis ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17266442 12168776 EGF epidermal growth factor gene DOID:3908 lung non-small cell carcinoma ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:25992884|REF_RGD_ID:13464350 12168776 EGF epidermal growth factor gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:26927662|REF_RGD_ID:13464348 12168776 EGF epidermal growth factor gene DOID:3910 lung adenocarcinoma ISO RGD:736832 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A61G (human) PMID:26625757|REF_RGD_ID:11538684 12168776 EGF epidermal growth factor gene DOID:4455 hereditary renal cell carcinoma ISO RGD:736832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary renal cell carcinoma 12168776 EGF epidermal growth factor gene DOID:4989 pancreatitis ISO RGD:736832 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:20127414|REF_RGD_ID:2317638 12168776 EGF epidermal growth factor gene DOID:5419 schizophrenia ISO RGD:736832 D RGD:9068941 20200609 RGD protein:decreased expression:brain, serum PMID:12192610|REF_RGD_ID:5131451 12168776 EGF epidermal growth factor gene DOID:552 pneumonia resistance ISO RGD:10510 D RGD:9068941 20200609 RGD PMID:21701422|REF_RGD_ID:6906904 12168776 EGF epidermal growth factor gene DOID:557 kidney disease ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21865292 12168776 EGF epidermal growth factor gene DOID:630 genetic disease ISO RGD:736832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12168776 EGF epidermal growth factor gene DOID:674 cleft palate ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11399798 12168776 EGF epidermal growth factor gene DOID:676 juvenile rheumatoid arthritis ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12168776 EGF epidermal growth factor gene DOID:684 hepatocellular carcinoma ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9029167 12168776 EGF epidermal growth factor gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:736832 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:SNP:exon: (rs11569017) (human) PMID:23790025|REF_RGD_ID:14695014 12168776 EGF epidermal growth factor gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:736832 D RGD:9068941 20200609 RGD associated with liver cirrhosis;DNA:SNP:5'UTR: (rs4444903) (human) PMID:18167406|REF_RGD_ID:14695013 12168776 EGF epidermal growth factor gene DOID:9000156 Metaplasia ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26390243 12168776 EGF epidermal growth factor gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14514962 12168776 EGF epidermal growth factor gene DOID:9000918 Disease Progression ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21794976 12168776 EGF epidermal growth factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21942447|PMID:23064031 12168776 EGF epidermal growth factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12168776 EGF epidermal growth factor gene DOID:9001600 Wounds and Injuries ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21967610 12168776 EGF epidermal growth factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:17475821|REF_RGD_ID:6906912 12168776 EGF epidermal growth factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16340751 12168776 EGF epidermal growth factor gene DOID:9004009 Reperfusion Injury ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 12168776 EGF epidermal growth factor gene DOID:9004009 Reperfusion Injury resistance ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:16417467|REF_RGD_ID:6906916 12168776 EGF epidermal growth factor gene DOID:9004210 Tympanic Membrane Perforation treatment ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:1437205|REF_RGD_ID:11556276 12168776 EGF epidermal growth factor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15802018|PMID:22869556|PMID:23064031|PMID:24587105|PMID:27634460 12168776 EGF epidermal growth factor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12687016|PMID:18245498|PMID:18995957 12168776 EGF epidermal growth factor gene DOID:9007715 Endometrial Neoplasms severity ISO RGD:736832 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:25416211|REF_RGD_ID:13432197 12168776 EGF epidermal growth factor gene DOID:9008114 Helicobacter Infections treatment ISO RGD:736832 D RGD:9068941 20200911 RGD associated with gastritis; PMID:25051417|REF_RGD_ID:38599160 12168776 EGF epidermal growth factor gene DOID:9008782 AIDS-Associated Nephropathy ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:19357719|REF_RGD_ID:6906909 12168776 EGF epidermal growth factor gene DOID:9008939 Breast Neoplasms ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16175315|PMID:21942447|PMID:23064031 12168807 TRIB2 tribbles pseudokinase 2 gene DOID:5419 schizophrenia ISO RGD:1351441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12168807 TRIB2 tribbles pseudokinase 2 gene DOID:630 genetic disease ISO RGD:1351441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168820 CSNK2B casein kinase 2 beta gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1347139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 12168820 CSNK2B casein kinase 2 beta gene DOID:0050553 JMP syndrome ISO RGD:1347139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12168820 CSNK2B casein kinase 2 beta gene DOID:0060041 autism spectrum disorder ISO RGD:1347139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12168820 CSNK2B casein kinase 2 beta gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1347139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868 12168820 CSNK2B casein kinase 2 beta gene DOID:11372 megacolon ISO RGD:1347139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12168820 CSNK2B casein kinase 2 beta gene DOID:127 leiomyoma ISO RGD:1347139 D RGD:9068941 20200609 RGD PMID:25327614|REF_RGD_ID:11565842 12168820 CSNK2B casein kinase 2 beta gene DOID:1749 squamous cell carcinoma ISO RGD:1347139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 12168820 CSNK2B casein kinase 2 beta gene DOID:1826 epilepsy ISO RGD:1347139 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:33644862|PMID:34041744 12168820 CSNK2B casein kinase 2 beta gene DOID:5844 myocardial infarction ISO RGD:619978 D RGD:9068941 20200609 RGD PMID:15090263|REF_RGD_ID:11565830 12168820 CSNK2B casein kinase 2 beta gene DOID:630 genetic disease ISO RGD:1347139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33166063|PMID:33644862|PMID:34041744 12168820 CSNK2B casein kinase 2 beta gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:619978 D RGD:9068941 20200609 RGD PMID:11068334|REF_RGD_ID:11565824 12168820 CSNK2B casein kinase 2 beta gene DOID:9002536 POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME ISO RGD:1347139 D RGD:7240710 20200226 OMIM 12168820 CSNK2B casein kinase 2 beta gene DOID:9002536 POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME ISO RGD:1347139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Poirier-Bienvenu neurodevelopmental syndrome PMID:11574463|PMID:25741868|PMID:28492532|PMID:28585349|PMID:28762608|PMID:30655572|PMID:31784560|PMID:33166063|PMID:33644862|PMID:34041744|PMID:35571680 12168820 CSNK2B casein kinase 2 beta gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:1624107 D RGD:9068941 20200609 RGD PMID:16651637|REF_RGD_ID:11565123 12168820 CSNK2B casein kinase 2 beta gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1347139 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 PMID:25741868 12168820 CSNK2B casein kinase 2 beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347139 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12168820 CSNK2B casein kinase 2 beta gene DOID:9004464 Skin Neoplasms ISO RGD:1347139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 12168837 AK9 adenylate kinase 9 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1354002 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 12168837 AK9 adenylate kinase 9 gene DOID:630 genetic disease ISO RGD:1354002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168897 TRIML1 tripartite motif family like 1 gene DOID:10283 prostate cancer ISO RGD:1605231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12168897 TRIML1 tripartite motif family like 1 gene DOID:12849 autistic disorder ISO RGD:1605231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12168897 TRIML1 tripartite motif family like 1 gene DOID:2229 factor XI deficiency ISO RGD:1605231 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:34355501 12168897 TRIML1 tripartite motif family like 1 gene DOID:630 genetic disease ISO RGD:1605231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168897 TRIML1 tripartite motif family like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12168907 ELAC1 elaC ribonuclease Z 1 gene DOID:1059 intellectual disability ISO RGD:1312386 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12168907 ELAC1 elaC ribonuclease Z 1 gene DOID:630 genetic disease ISO RGD:1312386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168915 PIBF1 progesterone immunomodulatory binding factor 1 gene DOID:0050777 Joubert syndrome ISO RGD:1312894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:26167768|PMID:28492532 12168915 PIBF1 progesterone immunomodulatory binding factor 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1312894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12168915 PIBF1 progesterone immunomodulatory binding factor 1 gene DOID:0080279 Joubert syndrome 33 ISO RGD:1312894 D RGD:7240710 20190315 OMIM 12168915 PIBF1 progesterone immunomodulatory binding factor 1 gene DOID:0080279 Joubert syndrome 33 ISO RGD:1312894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 33 PMID:25741868|PMID:26167768|PMID:28492532|PMID:29695797|PMID:30858804|PMID:31474318 12168915 PIBF1 progesterone immunomodulatory binding factor 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1312894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:25741868|PMID:26167768|PMID:30858804|PMID:31474318 12168915 PIBF1 progesterone immunomodulatory binding factor 1 gene DOID:630 genetic disease ISO RGD:1312894 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12168915 PIBF1 progesterone immunomodulatory binding factor 1 gene DOID:9000983 Encephalocele ISO RGD:1312894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cephalocele PMID:25741868|PMID:26167768|PMID:30858804|PMID:31474318 12168915 PIBF1 progesterone immunomodulatory binding factor 1 gene DOID:9004410 Threatened Abortion ISO RGD:1312894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15760377 12168955 MFAP3L microfibril associated protein 3 like gene DOID:630 genetic disease ISO RGD:1322643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168965 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:736840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12168965 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:10283 prostate cancer ISO RGD:736840 D RGD:9068941 20200609 RGD PMID:18722266|REF_RGD_ID:2302865 12168965 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:62309 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:15941609|REF_RGD_ID:2302869 12168965 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:736840 D RGD:9068941 20200609 RGD PMID:7770119|REF_RGD_ID:2302735 12168965 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:736840 D RGD:9068941 20200609 RGD PMID:10210891|REF_RGD_ID:2302864 12168965 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:736840 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:11853019|REF_RGD_ID:2302863 12168965 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:1682 congenital heart disease ISO RGD:62309 D RGD:9068941 20200609 RGD associated with Down Syndrome;protein:decreased expression:heart PMID:15063784|REF_RGD_ID:2302870 12168965 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:2394 ovarian cancer ISO RGD:736840 D RGD:9068941 20200609 RGD PMID:18652693|REF_RGD_ID:2302866 12168965 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:305 carcinoma ISO RGD:736840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12168965 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:736840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25329396 12168965 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:5844 myocardial infarction ISO RGD:62017 D RGD:9068941 20200609 RGD protein:decreased expression:right heart ventricle, ventricular septum PMID:17089028|REF_RGD_ID:2302667 12168965 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:6000 congestive heart failure ISO RGD:736840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 12168965 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:630 genetic disease ISO RGD:736840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168965 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736840 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:16243812|REF_RGD_ID:2302868 12168965 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736840 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms PMID:18191186|REF_RGD_ID:2302867 12168965 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12168965 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736840 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:decreased expression: PMID:12813171|REF_RGD_ID:2302862 12168965 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12168965 PEBP1 phosphatidylethanolamine binding protein 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:736840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12168971 AKAP4 A-kinase anchoring protein 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12168971 AKAP4 A-kinase anchoring protein 4 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:732830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 12168971 AKAP4 A-kinase anchoring protein 4 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:732830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12168971 AKAP4 A-kinase anchoring protein 4 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:732830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12168971 AKAP4 A-kinase anchoring protein 4 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:732830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12168971 AKAP4 A-kinase anchoring protein 4 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:732830 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 12168971 AKAP4 A-kinase anchoring protein 4 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:732830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12168971 AKAP4 A-kinase anchoring protein 4 gene DOID:12336 male infertility ISO RGD:732831 D RGD:9068941 20200609 RGD PMID:12167408|REF_RGD_ID:632500 12168971 AKAP4 A-kinase anchoring protein 4 gene DOID:12849 autistic disorder ISO RGD:732830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12168971 AKAP4 A-kinase anchoring protein 4 gene DOID:630 genetic disease ISO RGD:732830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12168986 SARAF store-operated calcium entry associated regulatory factor gene DOID:630 genetic disease ISO RGD:1604621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169000 CERS2 ceramide synthase 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1320742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12169000 CERS2 ceramide synthase 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1320742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12169000 CERS2 ceramide synthase 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1320742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12169000 CERS2 ceramide synthase 2 gene DOID:11446 sciatic neuropathy ISO RGD:1310059 D RGD:9068941 20220428 RGD mRNA,protein:decreased expression:sciatic nerve: PMID:22393241|REF_RGD_ID:11041067 12169000 CERS2 ceramide synthase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1320742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12169000 CERS2 ceramide synthase 2 gene DOID:5812 MHC class II deficiency ISO RGD:1320742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12169000 CERS2 ceramide synthase 2 gene DOID:630 genetic disease ISO RGD:1320742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169000 CERS2 ceramide synthase 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1320742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12169000 CERS2 ceramide synthase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12169013 OR9G1 olfactory receptor family 9 subfamily G member 1 gene DOID:1059 intellectual disability ISO RGD:1342549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12169013 OR9G1 olfactory receptor family 9 subfamily G member 1 gene DOID:630 genetic disease ISO RGD:1342549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169016 WNK2 WNK lysine deficient protein kinase 2 gene DOID:224 transient cerebral ischemia ISO RGD:1307284 D RGD:9068941 20200609 RGD PMID:27798271|REF_RGD_ID:14398833 12169016 WNK2 WNK lysine deficient protein kinase 2 gene DOID:630 genetic disease ISO RGD:1349205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169051 FREM2 FRAS1 related extracellular matrix 2 gene DOID:0080205 CAKUT ISO RGD:1347992 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:24700879|PMID:25741868|PMID:28492532|PMID:30143558 12169051 FREM2 FRAS1 related extracellular matrix 2 gene DOID:0090001 Fraser syndrome ISO RGD:1347992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cryptophthalmos with other malformations PMID:25741868 12169051 FREM2 FRAS1 related extracellular matrix 2 gene DOID:0111405 Fraser syndrome 1 ISO RGD:1347992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:17576681|PMID:25741868|PMID:26275891|PMID:28492532|PMID:9536098 12169051 FREM2 FRAS1 related extracellular matrix 2 gene DOID:0111407 Fraser syndrome 2 ISO RGD:1347992 D RGD:7240710 20190315 OMIM 12169051 FREM2 FRAS1 related extracellular matrix 2 gene DOID:0111407 Fraser syndrome 2 ISO RGD:1347992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fraser syndrome 2 PMID:15838507|PMID:18203166|PMID:18671281|PMID:24115501|PMID:24700879|PMID:25741868|PMID:26275891|PMID:28492532|PMID:29618029|PMID:29688405|PMID:30143558|PMID:30773290|PMID:30802441|PMID:30838450 12169051 FREM2 FRAS1 related extracellular matrix 2 gene DOID:0111716 cryptophthalmia ISO RGD:1347992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptophthalmia PMID:25741868 12169051 FREM2 FRAS1 related extracellular matrix 2 gene DOID:0111717 isolated cryptophthalmia ISO RGD:1347992 D RGD:7240710 20200325 OMIM 12169051 FREM2 FRAS1 related extracellular matrix 2 gene DOID:0111717 isolated cryptophthalmia ISO RGD:1347992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated cryptophthalmia PMID:17576681|PMID:24115501|PMID:25741868|PMID:26275891|PMID:28492532|PMID:29618029|PMID:29688405|PMID:30143558|PMID:30802441|PMID:30838450|PMID:9536098 12169051 FREM2 FRAS1 related extracellular matrix 2 gene DOID:10283 prostate cancer ISO RGD:1347992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12169051 FREM2 FRAS1 related extracellular matrix 2 gene DOID:10907 microcephaly ISO RGD:1347992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12169051 FREM2 FRAS1 related extracellular matrix 2 gene DOID:1923 disorder of sexual development ISO RGD:1347992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ambiguous genitalia PMID:25741868 12169051 FREM2 FRAS1 related extracellular matrix 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1347992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:25741868|PMID:28492532|PMID:30143558 12169051 FREM2 FRAS1 related extracellular matrix 2 gene DOID:5419 schizophrenia ISO RGD:1347992 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12169051 FREM2 FRAS1 related extracellular matrix 2 gene DOID:630 genetic disease ISO RGD:1347992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12169051 FREM2 FRAS1 related extracellular matrix 2 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1347992 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:28492532 12169051 FREM2 FRAS1 related extracellular matrix 2 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1347992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 12169082 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1350541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12169082 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1350541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12169082 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:1324 lung cancer severity ISO RGD:1350541 D RGD:9068941 20230105 RGD PMID:33573689|REF_RGD_ID:155791670 12169082 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1350541 D RGD:9068941 20230105 RGD PMID:33573689|REF_RGD_ID:155791670 12169082 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:5325 Roberts syndrome ISO RGD:1350541 D RGD:7240710 20180130 OMIM 12169082 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:5325 Roberts syndrome ISO RGD:1350541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Roberts syndrome | ClinVar Annotator: match by term: Roberts-SC phocomelia syndrome PMID:15821733|PMID:16199547|PMID:16380922|PMID:1642282|PMID:16775838|PMID:18411254|PMID:18414213|PMID:19574259|PMID:20101700|PMID:20301332|PMID:24864645|PMID:25741868|PMID:26710928|PMID:28492532|PMID:30508616|PMID:30590172|PMID:31192177|PMID:31976146|PMID:3740099|PMID:495649 12169082 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 12169082 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:630 genetic disease ISO RGD:1350541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15821733|PMID:16380922|PMID:18414213|PMID:20101700|PMID:28492532 12169082 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1350541 D RGD:9068941 20230105 RGD mRNA:increased expression:peripheral blood mononuclear cell PMID:36104638|REF_RGD_ID:155791669 12169082 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:1350541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 12169082 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1350541 D RGD:7240710 20210324 OMIM 12169082 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1350541 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Juberg-Hayward syndrome PMID:18414213|PMID:20301332|PMID:25741868|PMID:28492532|PMID:32255174|PMID:32977150 12169097 SLC25A37 solute carrier family 25 member 37 gene DOID:2355 anemia ISO RGD:1605395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253756 12169097 SLC25A37 solute carrier family 25 member 37 gene DOID:630 genetic disease ISO RGD:1605395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169097 SLC25A37 solute carrier family 25 member 37 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1605395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12169107 IGFBP2 insulin like growth factor binding protein 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12169107 IGFBP2 insulin like growth factor binding protein 2 gene DOID:0080600 COVID-19 ISO RGD:737357 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12169107 IGFBP2 insulin like growth factor binding protein 2 gene DOID:10652 Alzheimer's disease ISO RGD:737357 D RGD:9068941 20200609 RGD protein:decreased expression:temporal cortex: PMID:18479783|REF_RGD_ID:10045894 12169107 IGFBP2 insulin like growth factor binding protein 2 gene DOID:10763 hypertension ISO RGD:2873 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver, plasma PMID:9396554|REF_RGD_ID:1626482 12169107 IGFBP2 insulin like growth factor binding protein 2 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:737357 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor of eyeball: PMID:24106111|REF_RGD_ID:10045867 12169107 IGFBP2 insulin like growth factor binding protein 2 gene DOID:1459 hypothyroidism ISO RGD:2873 D RGD:9068941 20200609 RGD PMID:11834454|REF_RGD_ID:1626512 12169107 IGFBP2 insulin like growth factor binding protein 2 gene DOID:2773 contact dermatitis ISO RGD:737357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12169107 IGFBP2 insulin like growth factor binding protein 2 gene DOID:5082 liver cirrhosis ISO RGD:737357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 12169107 IGFBP2 insulin like growth factor binding protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 12169107 IGFBP2 insulin like growth factor binding protein 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:737357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12169107 IGFBP2 insulin like growth factor binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12169107 IGFBP2 insulin like growth factor binding protein 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:737357 D RGD:9068941 20200609 RGD PMID:16915540|REF_RGD_ID:1626481 12169107 IGFBP2 insulin like growth factor binding protein 2 gene DOID:9007480 Hyperoxia ISO RGD:2873 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:16288470|REF_RGD_ID:1626492 12169107 IGFBP2 insulin like growth factor binding protein 2 gene DOID:9007692 Insulin Resistance ISO RGD:737357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22537059 12169107 IGFBP2 insulin like growth factor binding protein 2 gene DOID:9007692 Insulin Resistance ISO RGD:737357 D RGD:9068941 20200609 RGD PMID:17259371|REF_RGD_ID:1626479 12169107 IGFBP2 insulin like growth factor binding protein 2 gene DOID:9970 obesity ISO RGD:737357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22537059 12169107 IGFBP2 insulin like growth factor binding protein 2 gene DOID:9970 obesity ISO RGD:737357 D RGD:9068941 20200609 RGD PMID:17259371|PMID:17426323|REF_RGD_ID:1626478|REF_RGD_ID:1626479 12169114 FLI1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:0050902 medulloblastoma ISO RGD:1320394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 12169114 FLI1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:0111053 platelet-type bleeding disorder 15 ISO RGD:1320394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bleeding disorder platelet type macrothrombocytopenia PMID:23809206|PMID:26316623 12169114 FLI1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:0111723 Jacobsen Syndrome ISO RGD:1320394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 11q partial monosomy syndrome | ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:25741868|PMID:28255014|PMID:31064749|PMID:32581362 12169114 FLI1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:1588 thrombocytopenia ISO RGD:1320394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:24100448|PMID:32581362 12169114 FLI1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:2213 hemorrhagic disease ISO RGD:1320394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:24100448|PMID:32581362 12169114 FLI1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:3369 Ewing sarcoma ISO RGD:1320394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11772151|PMID:16646077|PMID:26214589 12169114 FLI1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:418 systemic scleroderma ISO RGD:1320395 D RGD:9068941 20220825 MouseDO OMIM:181750 12169114 FLI1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:5419 schizophrenia ISO RGD:1320394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12169114 FLI1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:630 genetic disease ISO RGD:1320394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169114 FLI1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12169114 FLI1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:9003946 Platelet-Type Bleeding Disorder 21 ISO RGD:1320394 D RGD:7240710 20190315 OMIM 12169114 FLI1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:9003946 Platelet-Type Bleeding Disorder 21 ISO RGD:1320394 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 21 PMID:23809206|PMID:24100448|PMID:25741868|PMID:26316623|PMID:28255014|PMID:28492532|PMID:31064749|PMID:32581362|PMID:32987389|PMID:34355501 12169114 FLI1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12169114 FLI1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:9007661 Dwarfism ISO RGD:1320394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12169134 MMP1 matrix metallopeptidase 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1317388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 12169134 MMP1 matrix metallopeptidase 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1317388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 12169134 MMP1 matrix metallopeptidase 1 gene DOID:0050851 glomerulosclerosis ISO RGD:1307917 D RGD:9068941 20200609 RGD associated with Hyperhomocysteinemia PMID:20406136|REF_RGD_ID:7207203 12169134 MMP1 matrix metallopeptidase 1 gene DOID:0050851 glomerulosclerosis ISO RGD:1307917 D RGD:9068941 20200609 RGD protein:decreased expression:kidney (rat) PMID:21275176|REF_RGD_ID:7207363 12169134 MMP1 matrix metallopeptidase 1 gene DOID:0050855 renal fibrosis ISO RGD:1317388 D RGD:9068941 20200609 RGD human gene in mouse model; associated with Diabetes Mellitus, Experimental PMID:14674437|REF_RGD_ID:7207134 12169134 MMP1 matrix metallopeptidase 1 gene DOID:0060224 atrial fibrillation ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:20935575|REF_RGD_ID:8693675 12169134 MMP1 matrix metallopeptidase 1 gene DOID:0060224 atrial fibrillation ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:increased expression:papillary muscle of left ventricle PMID:19734590|REF_RGD_ID:8549736 12169134 MMP1 matrix metallopeptidase 1 gene DOID:0060249 scoliosis ISO RGD:1307917 D RGD:9068941 20200609 RGD protein:increased expression:intervertebral disc (rat) PMID:21554726|REF_RGD_ID:7207288 12169134 MMP1 matrix metallopeptidase 1 gene DOID:0060642 recessive dystrophic epidermolysis bullosa ISO RGD:1317388 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa PMID:25741868|PMID:28492532 12169134 MMP1 matrix metallopeptidase 1 gene DOID:0060903 thrombosis ISO RGD:1317388 D RGD:9068941 20200609 RGD associated with Arteriovenous Fistula;DNA:insertion:promoter:g.-1607insG (rs11292517) (human) PMID:20616161|REF_RGD_ID:7207048 12169134 MMP1 matrix metallopeptidase 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1317388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 12169134 MMP1 matrix metallopeptidase 1 gene DOID:0080600 COVID-19 ISO RGD:1317388 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 12169134 MMP1 matrix metallopeptidase 1 gene DOID:0080933 immunoglobulin light chain amyloidosis ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:increased expression:renal glomeruli (human) PMID:16164636|REF_RGD_ID:7207084 12169134 MMP1 matrix metallopeptidase 1 gene DOID:0111144 preterm premature rupture of the membranes ISO RGD:1317388 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Preterm premature rupture of the membranes 12169134 MMP1 matrix metallopeptidase 1 gene DOID:1059 intellectual disability ISO RGD:1317388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12169134 MMP1 matrix metallopeptidase 1 gene DOID:1070 primary open angle glaucoma ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs1799750 (human) PMID:23441116|REF_RGD_ID:8549724 12169134 MMP1 matrix metallopeptidase 1 gene DOID:1070 primary open angle glaucoma no_association ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG rs1799750 (human) PMID:20808730|REF_RGD_ID:8549725 12169134 MMP1 matrix metallopeptidase 1 gene DOID:10763 hypertension ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:15363819|REF_RGD_ID:1582532 12169134 MMP1 matrix metallopeptidase 1 gene DOID:10763 hypertension ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:decreased expression:renal glomerulus (human) PMID:19506087|REF_RGD_ID:2312464 12169134 MMP1 matrix metallopeptidase 1 gene DOID:10964 cholesteatoma of middle ear ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:12768791|REF_RGD_ID:7794712 12169134 MMP1 matrix metallopeptidase 1 gene DOID:11054 urinary bladder cancer ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:17986285|REF_RGD_ID:7207077 12169134 MMP1 matrix metallopeptidase 1 gene DOID:11054 urinary bladder cancer severity ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:increased expression:urine (human) PMID:11705862|REF_RGD_ID:7207140 12169134 MMP1 matrix metallopeptidase 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:12952838|REF_RGD_ID:1582538 12169134 MMP1 matrix metallopeptidase 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1317388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12169134 MMP1 matrix metallopeptidase 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:12167381|REF_RGD_ID:1582541 12169134 MMP1 matrix metallopeptidase 1 gene DOID:12930 dilated cardiomyopathy severity ISO RGD:1317388 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium (human) PMID:17178334|REF_RGD_ID:4890382 12169134 MMP1 matrix metallopeptidase 1 gene DOID:13001 carotid stenosis ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion, haplotype:promoter:g.-1607insG (human) PMID:12364729|REF_RGD_ID:1580553 12169134 MMP1 matrix metallopeptidase 1 gene DOID:1324 lung cancer ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion, haplotype:promoter:g.-1607insG (human) PMID:19963114|REF_RGD_ID:4890379 12169134 MMP1 matrix metallopeptidase 1 gene DOID:1324 lung cancer ISO RGD:1317388 D RGD:9068941 20200609 RGD associated with Respiratory Tract Diseases PMID:15718477|REF_RGD_ID:5131088 12169134 MMP1 matrix metallopeptidase 1 gene DOID:1324 lung cancer susceptibility ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:11691799|REF_RGD_ID:7207021 12169134 MMP1 matrix metallopeptidase 1 gene DOID:13641 exfoliation syndrome no_association ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG rs1799750 (human) PMID:20808730|REF_RGD_ID:8549725 12169134 MMP1 matrix metallopeptidase 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:15561045|REF_RGD_ID:1582530 12169134 MMP1 matrix metallopeptidase 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 12169134 MMP1 matrix metallopeptidase 1 gene DOID:1612 breast cancer ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:18366705|REF_RGD_ID:2298552 12169134 MMP1 matrix metallopeptidase 1 gene DOID:1612 breast cancer disease_progression ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:increased expression:breast, stromal cell (human) PMID:21835023|REF_RGD_ID:7207143 12169134 MMP1 matrix metallopeptidase 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:12473595|REF_RGD_ID:7207138 12169134 MMP1 matrix metallopeptidase 1 gene DOID:1712 aortic valve stenosis ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:15780799|REF_RGD_ID:1582522 12169134 MMP1 matrix metallopeptidase 1 gene DOID:1936 atherosclerosis ISO RGD:1317388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21742783 12169134 MMP1 matrix metallopeptidase 1 gene DOID:1936 atherosclerosis susceptibility ISO RGD:1317388 D RGD:9068941 20200609 RGD human gene in mouse model PMID:11375412|REF_RGD_ID:7207025 12169134 MMP1 matrix metallopeptidase 1 gene DOID:2320 obstructive lung disease severity ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:11875051|REF_RGD_ID:4890377 12169134 MMP1 matrix metallopeptidase 1 gene DOID:2349 arteriosclerosis ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:15621056|REF_RGD_ID:1582525 12169134 MMP1 matrix metallopeptidase 1 gene DOID:2394 ovarian cancer ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:10485461|REF_RGD_ID:7207020 12169134 MMP1 matrix metallopeptidase 1 gene DOID:2841 asthma ISO RGD:1317388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24469321 12169134 MMP1 matrix metallopeptidase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1317388 D RGD:7240710 20180130 OMIM 12169134 MMP1 matrix metallopeptidase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1317388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, rate of decline of lung function in PMID:11741975|PMID:11875051|PMID:18030675|PMID:9850057 12169134 MMP1 matrix metallopeptidase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19796283|REF_RGD_ID:7207054 12169134 MMP1 matrix metallopeptidase 1 gene DOID:3393 coronary artery disease ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion, haplotype:promoter:g.-1607insG rs799750 (human) PMID:17893005|REF_RGD_ID:7207049 12169134 MMP1 matrix metallopeptidase 1 gene DOID:3393 coronary artery disease severity ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:15619398|REF_RGD_ID:1582527 12169134 MMP1 matrix metallopeptidase 1 gene DOID:3407 carotid artery disease severity ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:15073384|REF_RGD_ID:1582361 12169134 MMP1 matrix metallopeptidase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1307917 D RGD:9068941 20200609 RGD PMID:22571259|REF_RGD_ID:7207277 12169134 MMP1 matrix metallopeptidase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20471133 12169134 MMP1 matrix metallopeptidase 1 gene DOID:418 systemic scleroderma ISO RGD:1317388 D RGD:9068941 20200609 RGD mRNA:decreased expression:skin PMID:22286923|REF_RGD_ID:8548651 12169134 MMP1 matrix metallopeptidase 1 gene DOID:418 systemic scleroderma severity ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12051403|REF_RGD_ID:8693663 12169134 MMP1 matrix metallopeptidase 1 gene DOID:4362 cervical cancer disease_progression ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:14550952|REF_RGD_ID:7207024 12169134 MMP1 matrix metallopeptidase 1 gene DOID:4450 renal cell carcinoma no_association ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:17980059|REF_RGD_ID:7207082 12169134 MMP1 matrix metallopeptidase 1 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:12845675|REF_RGD_ID:7207023 12169134 MMP1 matrix metallopeptidase 1 gene DOID:4914 esophagus adenocarcinoma susceptibility ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG rs1799750 (human) PMID:19321798|REF_RGD_ID:7207058 12169134 MMP1 matrix metallopeptidase 1 gene DOID:4959 epidermolysis bullosa dystrophica ISO RGD:1317388 D RGD:7240710 20180130 OMIM 12169134 MMP1 matrix metallopeptidase 1 gene DOID:4959 epidermolysis bullosa dystrophica severity ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607_-1606insG (human) PMID:18030675|REF_RGD_ID:8549728 12169134 MMP1 matrix metallopeptidase 1 gene DOID:5082 liver cirrhosis ISO RGD:1307917 D RGD:9068941 20200609 RGD PMID:16124044|REF_RGD_ID:7207132 12169134 MMP1 matrix metallopeptidase 1 gene DOID:5082 liver cirrhosis severity ISO RGD:1307917 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:14606082|REF_RGD_ID:7207396 12169134 MMP1 matrix metallopeptidase 1 gene DOID:5517 stomach carcinoma ISO RGD:1317388 D RGD:9068941 20200609 RGD mRNA:increased expression:gastric mucosa (human) PMID:20944126|REF_RGD_ID:7206857 12169134 MMP1 matrix metallopeptidase 1 gene DOID:5773 oral submucous fibrosis ISO RGD:1317388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 12169134 MMP1 matrix metallopeptidase 1 gene DOID:5844 myocardial infarction ISO RGD:1307917 D RGD:9068941 20200609 RGD PMID:11179039|REF_RGD_ID:7207136 12169134 MMP1 matrix metallopeptidase 1 gene DOID:5844 myocardial infarction ISO RGD:1307917 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:heart left ventricle (rat) PMID:8531210|REF_RGD_ID:7207198 12169134 MMP1 matrix metallopeptidase 1 gene DOID:5844 myocardial infarction ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:15009768|REF_RGD_ID:1582535 12169134 MMP1 matrix metallopeptidase 1 gene DOID:5844 myocardial infarction ISO RGD:1317388 D RGD:9068941 20200609 RGD human gene in rat model PMID:19797822|REF_RGD_ID:7207135 12169134 MMP1 matrix metallopeptidase 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1317388 D RGD:9068941 20200609 RGD associated with Coronary Artery Disease; DNA:snps, haplotype:promoter:g.-519A>G, g.-340T>C (human) PMID:16210545|REF_RGD_ID:1582520 12169134 MMP1 matrix metallopeptidase 1 gene DOID:6000 congestive heart failure ISO RGD:1307917 D RGD:9068941 20200609 RGD PMID:21866669|REF_RGD_ID:7207282 12169134 MMP1 matrix metallopeptidase 1 gene DOID:6000 congestive heart failure ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:12892382|REF_RGD_ID:1582539 12169134 MMP1 matrix metallopeptidase 1 gene DOID:630 genetic disease ISO RGD:1317388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169134 MMP1 matrix metallopeptidase 1 gene DOID:6432 pulmonary hypertension ISO RGD:1307917 D RGD:9068941 20200609 RGD PMID:23087098|REF_RGD_ID:7207217 12169134 MMP1 matrix metallopeptidase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:9972954|REF_RGD_ID:7207129 12169134 MMP1 matrix metallopeptidase 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:16293969|REF_RGD_ID:1582519 12169134 MMP1 matrix metallopeptidase 1 gene DOID:783 end stage renal disease no_association ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:22401717|REF_RGD_ID:7206856 12169134 MMP1 matrix metallopeptidase 1 gene DOID:783 end stage renal disease severity ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion, haplotype:promoter:g.-1607insG (human) PMID:19221176|REF_RGD_ID:7207064 12169134 MMP1 matrix metallopeptidase 1 gene DOID:799 varicose veins ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:12175972|REF_RGD_ID:1582540 12169134 MMP1 matrix metallopeptidase 1 gene DOID:824 periodontitis ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:gingiva, gingival crevicular fluid (human) PMID:11876270|REF_RGD_ID:7207044 12169134 MMP1 matrix metallopeptidase 1 gene DOID:8398 osteoarthritis ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:9972954|REF_RGD_ID:7207129 12169134 MMP1 matrix metallopeptidase 1 gene DOID:8472 localized scleroderma ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:9804345|REF_RGD_ID:1582543 12169134 MMP1 matrix metallopeptidase 1 gene DOID:8577 ulcerative colitis ISO RGD:1307917 D RGD:9068941 20200609 RGD PMID:18837084|REF_RGD_ID:7207395 12169134 MMP1 matrix metallopeptidase 1 gene DOID:8805 intermediate coronary syndrome ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:14675588|REF_RGD_ID:1582536 12169134 MMP1 matrix metallopeptidase 1 gene DOID:8923 skin melanoma ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes:promoter:multiple PMID:20655738|REF_RGD_ID:8549726 12169134 MMP1 matrix metallopeptidase 1 gene DOID:8923 skin melanoma disease_progression ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:multiple PMID:22198560|REF_RGD_ID:8549727 12169134 MMP1 matrix metallopeptidase 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:10644865|REF_RGD_ID:7207194 12169134 MMP1 matrix metallopeptidase 1 gene DOID:90 degenerative disc disease ISO RGD:1307917 D RGD:9068941 20200609 RGD PMID:19916288|REF_RGD_ID:7207382 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9000438 Subarachnoid Hemorrhage no_association ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:11546917|REF_RGD_ID:1582365 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:14499230|REF_RGD_ID:1582537 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1317388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12538496|PMID:19487542|PMID:22580338|PMID:23548910 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9001004 Chronic Periodontitis ISO RGD:1317388 D RGD:9068941 20200609 RGD mRNA:increased expression:gingiva (human) PMID:22401717|REF_RGD_ID:7206856 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9001004 Chronic Periodontitis no_association ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:15312099|REF_RGD_ID:7207046 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9001004 Chronic Periodontitis severity ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:12622858|REF_RGD_ID:7207045 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9001472 Nasal Polyps ISO RGD:1317388 D RGD:9068941 20200609 RGD associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa PMID:23064462|REF_RGD_ID:8549735 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317388 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12557150 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9001665 Aneurysm ISO RGD:1317388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21742783 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9002221 Hyperplasia ISO RGD:1307917 D RGD:9068941 20200609 RGD Intimal Hyperplasia PMID:22860019|REF_RGD_ID:7207219 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:19843588|REF_RGD_ID:7207056 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9002331 Knee Osteoarthritis treatment ISO RGD:1307917 D RGD:9068941 20200609 RGD PMID:21167838|REF_RGD_ID:8549737 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9002457 Experimental Arthritis ISO RGD:1307917 D RGD:9068941 20200609 RGD PMID:21108488|PMID:21288455|PMID:24011916|REF_RGD_ID:7207362|REF_RGD_ID:7207365|REF_RGD_ID:8549748 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9002804 Amaurosis Fugax ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:15073384|REF_RGD_ID:1582361 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9002884 Emphysema ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:intron:snp:IVS1+18C>T rs470358 (human) PMID:19293200|REF_RGD_ID:4890371 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9003817 Sudden Hearing Loss ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion, SNP, haplotypes:promoter:-1607_-1606insG (rs1799750), -519A>G (human) PMID:21154774|REF_RGD_ID:8549733 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9004484 Sepsis ISO RGD:1307917 D RGD:9068941 20200609 RGD PMID:23478082|REF_RGD_ID:8549749 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1317388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22580338 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1317388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23548910 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9005172 Lung Neoplasms no_association ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:19843588|REF_RGD_ID:7207056 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:19622769|REF_RGD_ID:8549722 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9005384 Adult Cerebral Astrocytoma susceptibility ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:17502998|REF_RGD_ID:7207034 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307917 D RGD:9068941 20200609 RGD protein:increased expression:periodontal ligament, alveolar bone of mandible (rat) PMID:20082587|REF_RGD_ID:7207377 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9005647 Experimental Autoimmune Uveitis onset ISO RGD:1307917 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:eye (rat) PMID:19755419|REF_RGD_ID:7207388 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9005700 Airway Obstruction ISO RGD:1317388 D RGD:9068941 20200609 RGD associated with Asthma; DNA:insertion:promoter:g.-1607insG (human) PMID:19191136|REF_RGD_ID:4890372 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9006045 Dissecting Aneurysm ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:15561045|REF_RGD_ID:1582530 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:19843588|REF_RGD_ID:7207056 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9007096 Stroke ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:11720009|REF_RGD_ID:1582542 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1307917 D RGD:9068941 20200609 RGD PMID:17996137|REF_RGD_ID:7207397 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:12892382|REF_RGD_ID:1582539 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9007877 Fetal Hypoxia ISO RGD:1307917 D RGD:9068941 20200609 RGD protein:altered expression:heart (rat) PMID:21856922|REF_RGD_ID:7207283 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9008 psoriatic arthritis ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:9972954|REF_RGD_ID:7207129 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1317388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23548910 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (human) PMID:11489811|REF_RGD_ID:7207022 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9008856 HIV-Associated Lipodystrophy Syndrome ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:SNP PMID:20852404|REF_RGD_ID:8549721 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1317388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23548910 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:9972954|REF_RGD_ID:7207129 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9206 Barrett's esophagus ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG (rs1799750) (human) PMID:19321798|REF_RGD_ID:7207058 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9282 ocular hypertension ISO RGD:1317388 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20089869 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9282 ocular hypertension treatment ISO RGD:1317388 D RGD:9068941 20200609 RGD PMID:20089869|REF_RGD_ID:8549723 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1307917 D RGD:9068941 20200609 RGD protein:increased expression:nucleus pulposus PMID:19951028|REF_RGD_ID:7207379 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317388 D RGD:9068941 20200609 RGD protein:decreased expression:renal glomerulus (human) PMID:19506087|REF_RGD_ID:2312464 12169134 MMP1 matrix metallopeptidase 1 gene DOID:9675 pulmonary emphysema ISO RGD:1317388 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1607insG rs1799750 (human) PMID:17363767|REF_RGD_ID:4890375 12169134 MMP1 matrix metallopeptidase 1 gene DOID:971 tendinitis ISO RGD:1307917 D RGD:9068941 20200609 RGD PMID:22926534|REF_RGD_ID:8549751 12169148 DSG2 desmoglein 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:18382419|PMID:18632414|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:23071725|PMID:23299917|PMID:23381804|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:25087486|PMID:25172079|PMID:25213555|PMID:25332820|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26899768|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28255936|PMID:28283360|PMID:28341588|PMID:28492532|PMID:28578331|PMID:28818065|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29544605|PMID:30454721|PMID:30790397|PMID:30885746|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31568572 12169148 DSG2 desmoglein 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1322446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:18382419|PMID:18632414|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:23071725|PMID:23137101|PMID:23299917|PMID:23381804|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25087486|PMID:25172079|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26688388|PMID:26899768|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28255936|PMID:28283360|PMID:28323875|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28578331|PMID:28818065|PMID:28878402|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29343803|PMID:29396286|PMID:29544605|PMID:29606362|PMID:29759408|PMID:30454721|PMID:30790397|PMID:30847666|PMID:30885746|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31645976|PMID:31845994|PMID:31983221|PMID:32746448|PMID:32880476|PMID:33232181|PMID:33652588|PMID:33673806|PMID:34012299|PMID:34036930|PMID:34317382|PMID:35087879|PMID:35300203 12169148 DSG2 desmoglein 2 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:28492532 12169148 DSG2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26230511|PMID:26633542|PMID:26656175|PMID:26822237|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28166811|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28600387|PMID:28818065|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29773157|PMID:29802319|PMID:30454721|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30885746|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:33087929|PMID:9536098 12169148 DSG2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26633542|PMID:26656175|PMID:26822237|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28600387|PMID:28818065|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29456632|PMID:29773157|PMID:29802319|PMID:30391969|PMID:30454721|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30885746|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31983221|PMID:32659924|PMID:33087929|PMID:33238575|PMID:9536098 12169148 DSG2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26633542|PMID:26656175|PMID:26822237|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28600387|PMID:28818065|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29456632|PMID:29773157|PMID:29802319|PMID:30391969|PMID:30454721|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30885746|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31983221|PMID:32659924|PMID:33087929|PMID:33238575|PMID:33652588|PMID:33949662|PMID:35087879|PMID:9536098 12169148 DSG2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29606362|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32102357|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33652588|PMID:33673806|PMID:33949662|PMID:34012299|PMID:34036930|PMID:34317382|PMID:35087879|PMID:35300203|PMID:35819174|PMID:9536098 12169148 DSG2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29606362|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32746448|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33652588|PMID:33673806|PMID:33949662|PMID:34012299|PMID:34036930|PMID:34317382|PMID:34426522|PMID:35087879|PMID:35300203|PMID:35819174|PMID:9536098 12169148 DSG2 desmoglein 2 gene DOID:0060319 cardiac arrest ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:20400443|PMID:23861362|PMID:24070718|PMID:25741868|PMID:28492532|PMID:28600387 12169148 DSG2 desmoglein 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103 12169148 DSG2 desmoglein 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1322446 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103|PMID:35087879 12169148 DSG2 desmoglein 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1322446 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103|PMID:35087879 12169148 DSG2 desmoglein 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1322446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:21606396|PMID:23396983|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103|PMID:29517769|PMID:30847666|PMID:35087879 12169148 DSG2 desmoglein 2 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1322446 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20129281|PMID:20603720|PMID:20829228|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23071725|PMID:23299917|PMID:23671136|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24436435|PMID:24704780|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:26138720|PMID:26230511|PMID:26899768|PMID:28492532|PMID:29062102|PMID:35819174 12169148 DSG2 desmoglein 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1322446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:16199547|PMID:16773573|PMID:17105751|PMID:19151369|PMID:19863551|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20857253|PMID:23671136|PMID:24033266|PMID:25741868|PMID:25820315|PMID:27532257|PMID:28283360|PMID:28492532|PMID:28600387|PMID:30731207|PMID:30790397|PMID:31386562|PMID:31402444|PMID:33238575 12169148 DSG2 desmoglein 2 gene DOID:0110081 arrhythmogenic right ventricular dysplasia 10 ISO RGD:1322446 D RGD:7240710 20180130 OMIM 12169148 DSG2 desmoglein 2 gene DOID:0110081 arrhythmogenic right ventricular dysplasia 10 ISO RGD:1322446 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22036071|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23128240|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24086444|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24585727|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28283360|PMID:28288337|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28611029|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29544605|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29790872|PMID:29802319|PMID:29899727|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32516855|PMID:32569162|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32746448|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33500567|PMID:33652588|PMID:33673806|PMID:33789662|PMID:34012299|PMID:34036930|PMID:34317382|PMID:34426522|PMID:35087879|PMID:35300203|PMID:35819174|PMID:9536098 12169148 DSG2 desmoglein 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1322446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:21606396|PMID:23396983|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103|PMID:29517769|PMID:30847666|PMID:35087879 12169148 DSG2 desmoglein 2 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868|PMID:28492532 12169148 DSG2 desmoglein 2 gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1322446 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868 12169148 DSG2 desmoglein 2 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:18639457|PMID:20031616|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30885746|PMID:31402444 12169148 DSG2 desmoglein 2 gene DOID:0110458 dilated cardiomyopathy 1BB ISO RGD:1322446 D RGD:7240710 20180130 OMIM 12169148 DSG2 desmoglein 2 gene DOID:0110458 dilated cardiomyopathy 1BB ISO RGD:1322446 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1BB | ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy PMID:12586364|PMID:16199547|PMID:16773573|PMID:17105751|PMID:17576681|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21859740|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25209314|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26498160|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:27055156|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28600387|PMID:28818065|PMID:29038103|PMID:29178656|PMID:29343803|PMID:29456632|PMID:29544605|PMID:29790872|PMID:29802319|PMID:29899727|PMID:30177324|PMID:30391969|PMID:30790397|PMID:30885746|PMID:31019283|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31542937|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32102357|PMID:32569162|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32746448|PMID:33029862|PMID:33232181|PMID:33500567|PMID:33652588|PMID:33673806|PMID:33949662|PMID:34317382|PMID:35087879|PMID:35300203|PMID:9536098 12169148 DSG2 desmoglein 2 gene DOID:1059 intellectual disability ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12169148 DSG2 desmoglein 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:20400443|PMID:21220045|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:25213555|PMID:25741868|PMID:27055156|PMID:28492532|PMID:28600387|PMID:29456632|PMID:32659924 12169148 DSG2 desmoglein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28492532|PMID:29802319|PMID:30885746 12169148 DSG2 desmoglein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28492532|PMID:28600387|PMID:29802319|PMID:30885746 12169148 DSG2 desmoglein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28323875|PMID:28492532|PMID:28600387|PMID:29802319|PMID:30885746|PMID:31983221 12169148 DSG2 desmoglein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322446 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28323875|PMID:28492532|PMID:28600387|PMID:29016939|PMID:29802319|PMID:30885746|PMID:31983221 12169148 DSG2 desmoglein 2 gene DOID:2843 long QT syndrome ISO RGD:1322446 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103|PMID:35087879 12169148 DSG2 desmoglein 2 gene DOID:397 restrictive cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12169148 DSG2 desmoglein 2 gene DOID:630 genetic disease ISO RGD:1322446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12169148 DSG2 desmoglein 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:24033266|PMID:25741868|PMID:28492532 12169148 DSG2 desmoglein 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation 12169148 DSG2 desmoglein 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1322446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572|PMID:9536098 12169148 DSG2 desmoglein 2 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1322446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:21606396|PMID:25741868|PMID:28492532|PMID:29517769|PMID:30847666 12169148 DSG2 desmoglein 2 gene DOID:9003163 Heart Block ISO RGD:1322446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:21606396|PMID:25741868|PMID:28492532|PMID:29517769|PMID:30847666 12169148 DSG2 desmoglein 2 gene DOID:9003936 Cardiomegaly ISO RGD:1311143 D RGD:9068941 20230420 RGD protein:increased expression:heart (rat) PMID:26708424|REF_RGD_ID:264347602 12169148 DSG2 desmoglein 2 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:0060478 Zika fever ISO RGD:62396 D RGD:9068941 20200702 RGD mRNA:increased expression:brain PMID:30241539|REF_RGD_ID:32733625 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:69165 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U PMID:28492532 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:10320 asbestosis ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25324550 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:2316 brain ischemia ISO RGD:62391 D RGD:9068941 20200609 RGD Protein:increased expression:brain PMID:15921666|REF_RGD_ID:1599731 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:2527 nephrosis ISO RGD:62391 D RGD:9068941 20200609 RGD Protein:increased expression:glomerulus, podocyte PMID:16400006|REF_RGD_ID:1599729 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:2527 nephrosis ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16400006 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:2773 contact dermatitis ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:2957 pulmonary tuberculosis ISO RGD:69165 D RGD:9068941 20200702 RGD mRNA,protein:increased expression:lung PMID:20856677|REF_RGD_ID:34888225 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:3021 acute kidney failure ISO RGD:62391 D RGD:9068941 20200609 RGD Protein:increased expression:renal tubule epithelium PMID:15476864|REF_RGD_ID:1599736 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:62391 D RGD:9068941 20200609 RGD PMID:24694971|REF_RGD_ID:13782182 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:5154 borna disease ISO RGD:62391 D RGD:9068941 20200702 RGD mRNA,protein:increased expression:cerebellum, hippocampus PMID:16912310|REF_RGD_ID:32733622 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:5199 ureteral obstruction treatment ISO RGD:62391 D RGD:9068941 20200609 RGD PMID:25707520|REF_RGD_ID:13782175 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:5295 intestinal disease ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20668000 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:5363 myxoid liposarcoma ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1283316|PMID:7503811|PMID:8510758 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:5363 myxoid liposarcoma ISO RGD:69165 D RGD:9068941 20200609 RGD DNA:translocation: ;t(12;16)(q13;p11) PMID:1283316|REF_RGD_ID:1599726 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:62391 D RGD:9068941 20200903 RGD protein:increased expression:lung PMID:32209028|REF_RGD_ID:38549370 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:69165 D RGD:9068941 20200903 RGD protein:increased expression:lung, endothelial cell PMID:32209028|REF_RGD_ID:38549370 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:5844 myocardial infarction ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25450231 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:607 paraplegia ISO RGD:69165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:630 genetic disease ISO RGD:69165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:6846 familial melanoma ISO RGD:69165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:62391 D RGD:9068941 20200709 RGD PMID:30226536|REF_RGD_ID:35316073 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:69165 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:28492532 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:62391 D RGD:9068941 20200709 RGD associated with Crush Injuries PMID:30465396|REF_RGD_ID:34901874 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:9004713 Acute-Phase Reaction ISO RGD:62391 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:8051100|REF_RGD_ID:1599745 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:9005175 Ulcer ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20668000 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:9005666 Contrast-Induced Nephropathy treatment ISO RGD:62391 D RGD:9068941 20200609 RGD PMID:27781957|REF_RGD_ID:13782262 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:62396 D RGD:9068941 20230302 RGD PMID:36044268|REF_RGD_ID:156430337 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:62391 D RGD:9068941 20200709 RGD mRNA,protein:increased expression:chondrocyte PMID:31007149|REF_RGD_ID:34888237 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:9008939 Breast Neoplasms ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14604972 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:9282 ocular hypertension ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24691439 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:9452 fatty liver disease ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27664470 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23499715 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:9870 galactosemia ISO RGD:62391 D RGD:9068941 20200609 RGD Protein:increased expression:lens epithelium PMID:16936110|REF_RGD_ID:1599728 12169167 DDIT3 DNA damage inducible transcript 3 gene DOID:9970 obesity ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26655953 12169178 DDX56 DEAD-box helicase 56 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12169178 DDX56 DEAD-box helicase 56 gene DOID:630 genetic disease ISO RGD:1349129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169179 AKAP11 A-kinase anchoring protein 11 gene DOID:3312 bipolar disorder ISO RGD:736276 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35410376 12169179 AKAP11 A-kinase anchoring protein 11 gene DOID:5419 schizophrenia ISO RGD:736276 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35410376 12169179 AKAP11 A-kinase anchoring protein 11 gene DOID:630 genetic disease ISO RGD:736276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169179 AKAP11 A-kinase anchoring protein 11 gene DOID:9007364 Mouth Neoplasms ISO RGD:736276 D RGD:9068941 20200609 RGD mRNA:increased expression:oral mucosa: PMID:15849745|REF_RGD_ID:14348954 12169200 CPO carboxypeptidase O gene DOID:14557 primary pulmonary hypertension ISO RGD:1342793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12169200 CPO carboxypeptidase O gene DOID:630 genetic disease ISO RGD:1342793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169200 CPO carboxypeptidase O gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12169216 SERPINF2 serpin family F member 2 gene DOID:0060601 alpha-2-plasmin inhibitor deficiency ISO RGD:1315455 D RGD:7240710 20180130 OMIM 12169216 SERPINF2 serpin family F member 2 gene DOID:0060601 alpha-2-plasmin inhibitor deficiency ISO RGD:1315455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-2-plasmin inhibitor deficiency PMID:10583218|PMID:2496145|PMID:7095605 12169216 SERPINF2 serpin family F member 2 gene DOID:0080600 COVID-19 severity ISO RGD:1315455 D RGD:9068941 20200813 RGD DNA:SNP: : PMID:32747830|REF_RGD_ID:38500238 12169216 SERPINF2 serpin family F member 2 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:1306692 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:10423332|REF_RGD_ID:1625538 12169216 SERPINF2 serpin family F member 2 gene DOID:10591 pre-eclampsia ISO RGD:1315455 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:1334334|REF_RGD_ID:1625535 12169216 SERPINF2 serpin family F member 2 gene DOID:10763 hypertension ISO RGD:1315455 D RGD:9068941 20200609 RGD PMID:9361364|REF_RGD_ID:1625531 12169216 SERPINF2 serpin family F member 2 gene DOID:1168 familial hyperlipidemia ISO RGD:1306692 D RGD:9068941 20200609 RGD PMID:2313941|REF_RGD_ID:1625536 12169216 SERPINF2 serpin family F member 2 gene DOID:2213 hemorrhagic disease ISO RGD:1315455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 12169216 SERPINF2 serpin family F member 2 gene DOID:3393 coronary artery disease ISO RGD:1315455 D RGD:9068941 20200609 RGD PMID:9184412|REF_RGD_ID:1625532 12169216 SERPINF2 serpin family F member 2 gene DOID:418 systemic scleroderma ISO RGD:1315455 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:12595617|REF_RGD_ID:1625530 12169216 SERPINF2 serpin family F member 2 gene DOID:630 genetic disease ISO RGD:1315455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12169216 SERPINF2 serpin family F member 2 gene DOID:9000528 Coronary Disease ISO RGD:1315455 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:15771120|REF_RGD_ID:1625529 12169216 SERPINF2 serpin family F member 2 gene DOID:9000808 Hypercholesterolemia ISO RGD:1315455 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:1384011|REF_RGD_ID:1625534 12169216 SERPINF2 serpin family F member 2 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1315455 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:9207984|REF_RGD_ID:1625533 12169216 SERPINF2 serpin family F member 2 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:1315455 D RGD:9068941 20200609 RGD PMID:6121140|REF_RGD_ID:1625537 12169216 SERPINF2 serpin family F member 2 gene DOID:9008217 Hemorrhage ISO RGD:1315455 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V384M (human) PMID:10583218|REF_RGD_ID:1580303 12169216 SERPINF2 serpin family F member 2 gene DOID:9477 pulmonary embolism severity ISO RGD:1315456 D RGD:9068941 20200609 RGD PMID:12911586|REF_RGD_ID:1580302 12169234 PTMS parathymosin gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:734337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12169234 PTMS parathymosin gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:734337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12169234 PTMS parathymosin gene DOID:0111621 Temtamy syndrome ISO RGD:734337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12169234 PTMS parathymosin gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:734337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12169243 YJU2 YJU2 splicing factor homolog gene DOID:13938 amenorrhea ISO RGD:1603997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12169255 C6H16orf90 chromosome 6 C16orf90 homolog gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:2303333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12169255 C6H16orf90 chromosome 6 C16orf90 homolog gene DOID:1826 epilepsy ISO RGD:2303333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12169255 C6H16orf90 chromosome 6 C16orf90 homolog gene DOID:1827 idiopathic generalized epilepsy ISO RGD:2303333 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12169255 C6H16orf90 chromosome 6 C16orf90 homolog gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:2303333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12169262 ZNF584 zinc finger protein 584 gene DOID:630 genetic disease ISO RGD:1348200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169277 THSD7A thrombospondin type 1 domain containing 7A gene DOID:3312 bipolar disorder ISO RGD:1602056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12169277 THSD7A thrombospondin type 1 domain containing 7A gene DOID:630 genetic disease ISO RGD:1602056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169318 SHISAL2B shisa like 2B gene DOID:630 genetic disease ISO RGD:2293813 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169318 SHISAL2B shisa like 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2293813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12169324 ALDH1A3 aldehyde dehydrogenase 1 family member A3 gene DOID:0060041 autism spectrum disorder ISO RGD:1353558 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12169324 ALDH1A3 aldehyde dehydrogenase 1 family member A3 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1353558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 12169324 ALDH1A3 aldehyde dehydrogenase 1 family member A3 gene DOID:0060841 isolated microphthalmia 8 ISO RGD:1353558 D RGD:7240710 20180130 OMIM 12169324 ALDH1A3 aldehyde dehydrogenase 1 family member A3 gene DOID:0060841 isolated microphthalmia 8 ISO RGD:1353558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 8 PMID:23312594|PMID:23591992|PMID:24777706|PMID:25741868|PMID:26995144|PMID:27717089|PMID:28492532 12169324 ALDH1A3 aldehyde dehydrogenase 1 family member A3 gene DOID:0111807 syndromic microphthalmia 9 ISO RGD:1353558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome PMID:25741868|PMID:28590501 12169324 ALDH1A3 aldehyde dehydrogenase 1 family member A3 gene DOID:10629 microphthalmia ISO RGD:1353558 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25741868 12169324 ALDH1A3 aldehyde dehydrogenase 1 family member A3 gene DOID:12849 autistic disorder ISO RGD:1353558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12169324 ALDH1A3 aldehyde dehydrogenase 1 family member A3 gene DOID:1909 melanoma ISO RGD:1353558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31580832 12169324 ALDH1A3 aldehyde dehydrogenase 1 family member A3 gene DOID:630 genetic disease ISO RGD:1353558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169324 ALDH1A3 aldehyde dehydrogenase 1 family member A3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1353558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12169324 ALDH1A3 aldehyde dehydrogenase 1 family member A3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12169391 MAML3 mastermind like transcriptional coactivator 3 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1317803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12169391 MAML3 mastermind like transcriptional coactivator 3 gene DOID:0080799 sinonasal undifferentiated carcinoma ISO RGD:1317803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859338 12169391 MAML3 mastermind like transcriptional coactivator 3 gene DOID:1115 sarcoma ISO RGD:1317803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859338 12169391 MAML3 mastermind like transcriptional coactivator 3 gene DOID:1682 congenital heart disease ISO RGD:1317803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23708190 12169391 MAML3 mastermind like transcriptional coactivator 3 gene DOID:630 genetic disease ISO RGD:1317803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169455 UTP20 UTP20 small subunit processome component gene DOID:630 genetic disease ISO RGD:1607048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169524 ARFGAP2 ADP ribosylation factor GTPase activating protein 2 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1314646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12169524 ARFGAP2 ADP ribosylation factor GTPase activating protein 2 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1314646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 12169524 ARFGAP2 ADP ribosylation factor GTPase activating protein 2 gene DOID:1059 intellectual disability ISO RGD:1314646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12169524 ARFGAP2 ADP ribosylation factor GTPase activating protein 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12169524 ARFGAP2 ADP ribosylation factor GTPase activating protein 2 gene DOID:630 genetic disease ISO RGD:1314646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169524 ARFGAP2 ADP ribosylation factor GTPase activating protein 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1314646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12169524 ARFGAP2 ADP ribosylation factor GTPase activating protein 2 gene DOID:9000918 Disease Progression ISO RGD:1314646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12169548 LRRTM3 leucine rich repeat transmembrane neuronal 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1312552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20678249 12169548 LRRTM3 leucine rich repeat transmembrane neuronal 3 gene DOID:0110084 arrhythmogenic right ventricular dysplasia 13 ISO RGD:1312552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 13 PMID:28492532 12169548 LRRTM3 leucine rich repeat transmembrane neuronal 3 gene DOID:630 genetic disease ISO RGD:1312552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169555 ADCY9 adenylate cyclase 9 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12169555 ADCY9 adenylate cyclase 9 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1312370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 12169555 ADCY9 adenylate cyclase 9 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1312370 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 12169555 ADCY9 adenylate cyclase 9 gene DOID:1682 congenital heart disease ISO RGD:1312370 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 12169555 ADCY9 adenylate cyclase 9 gene DOID:1826 epilepsy ISO RGD:1312370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12169555 ADCY9 adenylate cyclase 9 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312370 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12169555 ADCY9 adenylate cyclase 9 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1312370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:12114483|PMID:15706485|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12169555 ADCY9 adenylate cyclase 9 gene DOID:3324 mood disorder no_association ISO RGD:1312370 D RGD:9068941 20200609 RGD DNA:polymorphisms:repeat,cds: PMID:11840511|REF_RGD_ID:1358365 12169555 ADCY9 adenylate cyclase 9 gene DOID:630 genetic disease ISO RGD:1312370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169555 ADCY9 adenylate cyclase 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12169572 TTLL11 tubulin tyrosine ligase like 11 gene DOID:630 genetic disease ISO RGD:1322671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169591 LOC491432 zinc finger protein 577 gene DOID:630 genetic disease ISO RGD:1350365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169596 SNED1 sushi, nidogen and EGF like domains 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1349916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12169596 SNED1 sushi, nidogen and EGF like domains 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1349916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12169596 SNED1 sushi, nidogen and EGF like domains 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1349916 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12169596 SNED1 sushi, nidogen and EGF like domains 1 gene DOID:1059 intellectual disability ISO RGD:1349916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12169596 SNED1 sushi, nidogen and EGF like domains 1 gene DOID:630 genetic disease ISO RGD:1349916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169596 SNED1 sushi, nidogen and EGF like domains 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1349916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12169647 FCRL1 Fc receptor like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12169647 FCRL1 Fc receptor like 1 gene DOID:630 genetic disease ISO RGD:1602077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169647 FCRL1 Fc receptor like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12169666 GPR88 G protein-coupled receptor 88 gene DOID:630 genetic disease ISO RGD:735493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12169666 GPR88 G protein-coupled receptor 88 gene DOID:9003973 Childhood-Onset Chorea with Psychomotor Retardation ISO RGD:735493 D RGD:7240710 20190315 OMIM 12169666 GPR88 G protein-coupled receptor 88 gene DOID:9003973 Childhood-Onset Chorea with Psychomotor Retardation ISO RGD:735493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chorea, childhood-onset, with psychomotor retardation PMID:25741868|PMID:27123486|PMID:28492532 12169666 GPR88 G protein-coupled receptor 88 gene DOID:9269 maple syrup urine disease ISO RGD:735493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 12169673 MED12 mediator complex subunit 12 gene DOID:0001816 angiosarcoma ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angiosarcoma PMID:26822237 12169673 MED12 mediator complex subunit 12 gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:1350145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532 12169673 MED12 mediator complex subunit 12 gene DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1 PMID:25741868 12169673 MED12 mediator complex subunit 12 gene DOID:0060289 Ohdo syndrome ISO RGD:1350145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12169673 MED12 mediator complex subunit 12 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12169673 MED12 mediator complex subunit 12 gene DOID:0070057 Coffin-Siris syndrome 9 ISO RGD:1350145 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND WITH OR WITHOUT OCULAR MALFORMATIONS OR HYPOGONADOTROPIC HYPOGONADISM PMID:25741868 12169673 MED12 mediator complex subunit 12 gene DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type ISO RGD:1350145 D RGD:7240710 20180130 OMIM 12169673 MED12 mediator complex subunit 12 gene DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type ISO RGD:1350145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lujan Syndrome | ClinVar Annotator: match by term: MED12-related intellectual disability syndrome | ClinVar Annotator: match by term: X-linked mental retardation with marfanoid habitus syndrome PMID:10405444|PMID:16199547|PMID:17334363|PMID:17369503|PMID:18414213|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:23395478|PMID:24039113|PMID:24077912|PMID:24728327|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26338144|PMID:26350204|PMID:27980443|PMID:28369444|PMID:28492532|PMID:30006928|PMID:30729724|PMID:31322785|PMID:31536828|PMID:32174975|PMID:32371413|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34008892|PMID:6711603 12169673 MED12 mediator complex subunit 12 gene DOID:0110457 dilated cardiomyopathy 1Y ISO RGD:1350145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1Y PMID:28492532 12169673 MED12 mediator complex subunit 12 gene DOID:10488 imperforate anus ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia PMID:10405444|PMID:17334363|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:25326635|PMID:25741868|PMID:26350204|PMID:28369444|PMID:28492532 12169673 MED12 mediator complex subunit 12 gene DOID:1059 intellectual disability ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10405444|PMID:17334363|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:25326635|PMID:25741868|PMID:26273451|PMID:26350204|PMID:28369444|PMID:28492532|PMID:28544239 12169673 MED12 mediator complex subunit 12 gene DOID:12849 autistic disorder ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12169673 MED12 mediator complex subunit 12 gene DOID:13223 uterine fibroid ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uterine leiomyoma PMID:26822237 12169673 MED12 mediator complex subunit 12 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1350145 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:18414213|PMID:20301719|PMID:23395478|PMID:24039113|PMID:24715367|PMID:24728327|PMID:25326637|PMID:25741868|PMID:26273451|PMID:26813965|PMID:27312080|PMID:28492532|PMID:28544239|PMID:30006928|PMID:33244166|PMID:9536098 12169673 MED12 mediator complex subunit 12 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1350145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:18414213|PMID:20301719|PMID:23395478|PMID:24039113|PMID:24715367|PMID:24728327|PMID:25326637|PMID:25741868|PMID:26273451|PMID:26813965|PMID:27312080|PMID:28492532|PMID:28544239|PMID:30006928|PMID:33023636|PMID:33244166|PMID:34008892|PMID:9536098 12169673 MED12 mediator complex subunit 12 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1350145 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:18414213|PMID:20301719|PMID:23395478|PMID:24039113|PMID:24715367|PMID:24728327|PMID:25326637|PMID:25741868|PMID:26273451|PMID:26813965|PMID:27081531|PMID:27312080|PMID:28492532|PMID:28544239|PMID:28882788|PMID:30006928|PMID:32779332|PMID:33023636|PMID:33244166|PMID:34008892|PMID:9536098 12169673 MED12 mediator complex subunit 12 gene DOID:1470 major depressive disorder ISO RGD:1350145 D RGD:9068941 20200806 RGD DNA:mutation:multiple PMID:12216017|REF_RGD_ID:1358728 12169673 MED12 mediator complex subunit 12 gene DOID:14711 FG syndrome ISO RGD:1350145 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome PMID:10405444|PMID:10982179|PMID:16199547|PMID:16700052|PMID:17334363|PMID:17369503|PMID:17576681|PMID:18414213|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:23395478|PMID:23757202|PMID:24039113|PMID:24077912|PMID:24715367|PMID:24728327|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26273451|PMID:26338144|PMID:26350204|PMID:26813965|PMID:27081531|PMID:27312080|PMID:27500536|PMID:27620904|PMID:27980443|PMID:28369444|PMID:28492532|PMID:28544239|PMID:28794916|PMID:30006928|PMID:30729724|PMID:31536828|PMID:32371413|PMID:32682435|PMID:32715471|PMID:32779332|PMID:33023636|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34008892|PMID:34079076|PMID:6711603|PMID:8279489|PMID:9536098 12169673 MED12 mediator complex subunit 12 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12169673 MED12 mediator complex subunit 12 gene DOID:1967 leiomyosarcoma ISO RGD:1350145 D RGD:9068941 20200609 RGD DNA:missense mutations:cds: PMID:26891131|REF_RGD_ID:11353203 12169673 MED12 mediator complex subunit 12 gene DOID:2154 nephroblastoma ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor, somatic PMID:25741868|PMID:26822237 12169673 MED12 mediator complex subunit 12 gene DOID:2526 prostate adenocarcinoma ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:26619011 12169673 MED12 mediator complex subunit 12 gene DOID:3068 glioblastoma ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:26822237 12169673 MED12 mediator complex subunit 12 gene DOID:3717 gastric adenocarcinoma ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:26619011 12169673 MED12 mediator complex subunit 12 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26619011 12169673 MED12 mediator complex subunit 12 gene DOID:3948 adrenocortical carcinoma ISO RGD:1350145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747642 12169673 MED12 mediator complex subunit 12 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:26619011 12169673 MED12 mediator complex subunit 12 gene DOID:591 phobic disorder ISO RGD:1350145 D RGD:9068941 20200806 RGD DNA:mutation:multiple PMID:12216017|REF_RGD_ID:1358728 12169673 MED12 mediator complex subunit 12 gene DOID:630 genetic disease ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10405444|PMID:16700052|PMID:17036352|PMID:17103446|PMID:17334363|PMID:17369503|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20507344|PMID:20970104|PMID:20981778|PMID:23091001|PMID:23395478|PMID:23506379|PMID:24039113|PMID:25326635|PMID:25644381|PMID:25741868|PMID:26273451|PMID:26338144|PMID:26350204|PMID:27500536|PMID:27620904|PMID:28369444|PMID:28492532|PMID:28794916|PMID:30006928|PMID:30729724|PMID:32682435|PMID:8279489 12169673 MED12 mediator complex subunit 12 gene DOID:9001471 Anorectal Malformations ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anorectal stenosis PMID:10405444|PMID:17334363|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:25326635|PMID:25741868|PMID:26350204|PMID:28369444|PMID:28492532 12169673 MED12 mediator complex subunit 12 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum agenesis PMID:10405444|PMID:17334363|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:25326635|PMID:25741868|PMID:26350204|PMID:28369444|PMID:28492532 12169673 MED12 mediator complex subunit 12 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22610119|PMID:29610475 12169673 MED12 mediator complex subunit 12 gene DOID:9003401 Hardikar Syndrome ISO RGD:1350145 D RGD:7240710 20211222 OMIM 12169673 MED12 mediator complex subunit 12 gene DOID:9003401 Hardikar Syndrome ISO RGD:1350145 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cholestasis-pigmentary retinopathy-cleft palate syndrome | ClinVar Annotator: match by term: Hardikar syndrome PMID:20301719|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30006928|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34079076|PMID:9286458 12169673 MED12 mediator complex subunit 12 gene DOID:9004240 Phyllodes Tumor ISO RGD:1350145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 12169673 MED12 mediator complex subunit 12 gene DOID:9004628 Ohdo Syndrome, X-Linked ISO RGD:1350145 D RGD:7240710 20180130 OMIM 12169673 MED12 mediator complex subunit 12 gene DOID:9004628 Ohdo Syndrome, X-Linked ISO RGD:1350145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE | ClinVar Annotator: match by term: Ohdo syndrome, X-linked PMID:10405444|PMID:16700052|PMID:17334363|PMID:17369503|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:23395478|PMID:24039113|PMID:24077912|PMID:24715367|PMID:24728327|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26338144|PMID:26350204|PMID:27500536|PMID:27620904|PMID:28369444|PMID:28492532|PMID:28794916|PMID:30006928|PMID:30729724|PMID:32371413|PMID:32682435|PMID:32715471|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34079076|PMID:8279489 12169673 MED12 mediator complex subunit 12 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1350145 D RGD:9068941 20200609 RGD DNA:duplication mutation:cds:c.5898dupC(p.S1967Qfs84)(human) PMID:24039113|REF_RGD_ID:12910947 12169673 MED12 mediator complex subunit 12 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1350145 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:2881C>T(p.R961W)(human) PMID:17334363|REF_RGD_ID:12910952 12169673 MED12 mediator complex subunit 12 gene DOID:9006947 Fibroadenoma ISO RGD:1350145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25038752|PMID:26437033 12169673 MED12 mediator complex subunit 12 gene DOID:9007898 FG Syndrome 1 ISO RGD:1350145 D RGD:7240710 20200226 OMIM 12169673 MED12 mediator complex subunit 12 gene DOID:9007898 FG Syndrome 1 ISO RGD:1350145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:10405444|PMID:10982179|PMID:16199547|PMID:16700052|PMID:17334363|PMID:17369503|PMID:17576681|PMID:18414213|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20507344|PMID:20981778|PMID:23091001|PMID:23395478|PMID:23506379|PMID:23757202|PMID:24033266|PMID:24039113|PMID:24077912|PMID:24715367|PMID:24728327|PMID:25326635|PMID:25326637|PMID:25644381|PMID:25741868|PMID:26273451|PMID:26338144|PMID:26350204|PMID:26467025|PMID:26813965|PMID:27081531|PMID:27286923|PMID:27312080|PMID:27500536|PMID:27620904|PMID:27980443|PMID:28369444|PMID:28492532|PMID:28544239|PMID:28794916|PMID:30006928|PMID:30729724|PMID:31322785|PMID:31536828|PMID:32174975|PMID:32371413|PMID:32410215|PMID:32682435|PMID:32715471|PMID:32779332|PMID:33023636|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34008892|PMID:34079076|PMID:6711603|PMID:8279489|PMID:9286458|PMID:9536098 12169673 MED12 mediator complex subunit 12 gene DOID:9008086 Developmental Disabilities ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:10405444|PMID:17334363|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:25326635|PMID:25741868|PMID:26350204|PMID:28369444|PMID:28492532 12169673 MED12 mediator complex subunit 12 gene DOID:9008939 Breast Neoplasms ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:26619011 12169737 CHCHD1 coiled-coil-helix-coiled-coil-helix domain containing 1 gene DOID:630 genetic disease ISO RGD:1316148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169751 LOC102156300 collagen alpha-4(IV) chain gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1319246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 12169751 LOC102156300 collagen alpha-4(IV) chain gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1319246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12169751 LOC102156300 collagen alpha-4(IV) chain gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1319246 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 12169751 LOC102156300 collagen alpha-4(IV) chain gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1319246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12169751 LOC102156300 collagen alpha-4(IV) chain gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1319246 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12169751 LOC102156300 collagen alpha-4(IV) chain gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1319246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 12169751 LOC102156300 collagen alpha-4(IV) chain gene DOID:10126 keratoconus ISO RGD:1319246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 12169751 LOC102156300 collagen alpha-4(IV) chain gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1319246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12169751 LOC102156300 collagen alpha-4(IV) chain gene DOID:630 genetic disease ISO RGD:1319246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169751 LOC102156300 collagen alpha-4(IV) chain gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1319246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 12169762 RPS3A ribosomal protein S3A gene DOID:630 genetic disease ISO RGD:1348881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169772 FRY FRY microtubule binding protein gene DOID:1059 intellectual disability ISO RGD:1349911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12169772 FRY FRY microtubule binding protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1349911 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome 12169772 FRY FRY microtubule binding protein gene DOID:630 genetic disease ISO RGD:1349911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169772 FRY FRY microtubule binding protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12169837 CDC20B cell division cycle 20B gene DOID:630 genetic disease ISO RGD:1602643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169837 CDC20B cell division cycle 20B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12169856 SLC35F2 solute carrier family 35 member F2 gene DOID:1059 intellectual disability ISO RGD:1344599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12169856 SLC35F2 solute carrier family 35 member F2 gene DOID:12704 ataxia telangiectasia ISO RGD:1344599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12169856 SLC35F2 solute carrier family 35 member F2 gene DOID:630 genetic disease ISO RGD:1344599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169856 SLC35F2 solute carrier family 35 member F2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12169872 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 gene DOID:13580 cholestasis disease_progression ISO RGD:708379 D RGD:9068941 20210827 RGD PMID:29204052|REF_RGD_ID:13782189 12169872 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 gene DOID:1612 breast cancer no_association ISO RGD:1352962 D RGD:9068941 20200609 RGD PMID:15180491|REF_RGD_ID:5685600 12169872 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 gene DOID:1883 hepatitis C ISO RGD:1352962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8864187 12169872 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 gene DOID:2030 anxiety disorder ISO RGD:708379 D RGD:9068941 20210827 RGD protein:altered activity::treatment PMID:17376576|REF_RGD_ID:5685599 12169872 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 gene DOID:2987 familial Mediterranean fever sexual_dimorphism ISO RGD:1352962 D RGD:9068941 20201002 RGD DNA:SNPs: :15713T>C,15615T>C (human) PMID:23408444|REF_RGD_ID:39456097 12169872 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 gene DOID:3347 osteosarcoma ISO RGD:1352962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17279585 12169872 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 gene DOID:4001 ovarian carcinoma ISO RGD:1352962 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35622184 12169872 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12169872 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 gene DOID:630 genetic disease ISO RGD:1352962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169872 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 gene DOID:783 end stage renal disease ISO RGD:708379 D RGD:9068941 20210827 RGD mRNA, protein:decreased expression:intestine PMID:12039987|REF_RGD_ID:7296923 12169872 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1352962 D RGD:9068941 20200609 RGD DNA:snp:cds:p.I118V (human) PMID:18566305|REF_RGD_ID:5685415 12169872 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496535 12169872 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 gene DOID:9004506 VITAMIN D-DEPENDENT RICKETS, TYPE 3 ISO RGD:1352962 D RGD:7240710 20201202 OMIM 12169872 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 gene DOID:9004506 VITAMIN D-DEPENDENT RICKETS, TYPE 3 ISO RGD:1352962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 3 PMID:29461981 12169872 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 gene DOID:9005372 Inflammation ISO RGD:1352962 D RGD:9068941 20200609 RGD mRna,protein:decreased expression PMID:17576808|REF_RGD_ID:5685598 12169872 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 gene DOID:9005372 Inflammation ISO RGD:708379 D RGD:9068941 20210827 CTD CTD Direct Evidence: marker/mechanism PMID:21467745 12169872 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 gene DOID:9005444 Torsades de Pointes ISO RGD:1352962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15875343 12169872 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 gene DOID:9005539 Familial Prostate Cancer no_association ISO RGD:1352962 D RGD:9068941 20200609 RGD PMID:15180491|REF_RGD_ID:5685600 12169872 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28762043 12169872 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1352962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496535 12169872 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:708379 D RGD:9068941 20210827 CTD CTD Direct Evidence: marker/mechanism PMID:22244987 12169889 CPNE6 copine 6 gene DOID:0060439 lysinuric protein intolerance ISO RGD:732149 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12169889 CPNE6 copine 6 gene DOID:0080600 COVID-19 ISO RGD:732149 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12169889 CPNE6 copine 6 gene DOID:630 genetic disease ISO RGD:732149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169889 CPNE6 copine 6 gene DOID:9000265 Specific Granule Deficiency ISO RGD:732149 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12169889 CPNE6 copine 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:732149 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12169905 DHX8 DEAH-box helicase 8 gene DOID:0080205 CAKUT ISO RGD:1321795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:30143558 12169905 DHX8 DEAH-box helicase 8 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:19894111|PMID:23996866|PMID:24686251|PMID:28492532 12169905 DHX8 DEAH-box helicase 8 gene DOID:630 genetic disease ISO RGD:1321795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169932 FNDC8 fibronectin type III domain containing 8 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603304 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12169932 FNDC8 fibronectin type III domain containing 8 gene DOID:630 genetic disease ISO RGD:1603304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169932 FNDC8 fibronectin type III domain containing 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12169940 AK1 adenylate kinase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736701 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12169940 AK1 adenylate kinase 1 gene DOID:0050746 mantle cell lymphoma ISO RGD:736701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23676220 12169940 AK1 adenylate kinase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:736701 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12169940 AK1 adenylate kinase 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:736701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12169940 AK1 adenylate kinase 1 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:736701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 12169940 AK1 adenylate kinase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736701 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12169940 AK1 adenylate kinase 1 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:736701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:15879500|PMID:20414677|PMID:28492532 12169940 AK1 adenylate kinase 1 gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:736701 D RGD:9068941 20200609 RGD DNA:missense, deletion mutations:cds: PMID:17662886|REF_RGD_ID:11100022 12169940 AK1 adenylate kinase 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:2076 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (rat) PMID:16468349|REF_RGD_ID:5508760 12169940 AK1 adenylate kinase 1 gene DOID:583 hemolytic anemia ISO RGD:736701 D RGD:9068941 20200609 RGD PMID:10233365|REF_RGD_ID:1300279 12169940 AK1 adenylate kinase 1 gene DOID:5844 myocardial infarction treatment ISO RGD:2076 D RGD:9068941 20200609 RGD PMID:22229508|REF_RGD_ID:11100025 12169940 AK1 adenylate kinase 1 gene DOID:630 genetic disease ISO RGD:736701 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12169940 AK1 adenylate kinase 1 gene DOID:9005319 Hemolytic Anemia due to Adenylate Kinase Deficiency ISO RGD:736701 D RGD:7240710 20180130 OMIM 12169940 AK1 adenylate kinase 1 gene DOID:9005319 Hemolytic Anemia due to Adenylate Kinase Deficiency ISO RGD:736701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemolytic anemia due to adenylate kinase deficiency PMID:10233365|PMID:12649162|PMID:15315793|PMID:24033266|PMID:2542324|PMID:25741868|PMID:28492532|PMID:9432020 12169940 AK1 adenylate kinase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:736701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12169940 AK1 adenylate kinase 1 gene DOID:9008824 Sarcopenia ISO RGD:2076 D RGD:9068941 20200609 RGD protein:increased expression:gastrocnemius muscle (rat) PMID:17611631|REF_RGD_ID:5147990 12169940 AK1 adenylate kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2076 D RGD:9068941 20200609 RGD protein:increased expression:gastrocnemius muscle (rat) PMID:20127051|REF_RGD_ID:5134362 12169940 AK1 adenylate kinase 1 gene DOID:9970 obesity ISO RGD:736701 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:15855311|REF_RGD_ID:1601154 12169956 PAPOLG poly(A) polymerase gamma gene DOID:630 genetic disease ISO RGD:1321183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12169984 DNAI2 dynein axonemal intermediate chain 2 gene DOID:0050144 Kartagener syndrome ISO RGD:1615480 D RGD:9068941 20221013 MouseDO 12169984 DNAI2 dynein axonemal intermediate chain 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1347605 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12169984 DNAI2 dynein axonemal intermediate chain 2 gene DOID:0110622 primary ciliary dyskinesia 9 ISO RGD:1347605 D RGD:7240710 20180130 OMIM 12169984 DNAI2 dynein axonemal intermediate chain 2 gene DOID:0110622 primary ciliary dyskinesia 9 ISO RGD:1347605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 9 PMID:16199547|PMID:17576681|PMID:18950741|PMID:20301301|PMID:23261302|PMID:23891469|PMID:24033266|PMID:25741868|PMID:25802884|PMID:28492532|PMID:9536098 12169984 DNAI2 dynein axonemal intermediate chain 2 gene DOID:630 genetic disease ISO RGD:1347605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12169984 DNAI2 dynein axonemal intermediate chain 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1347605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:18950741|PMID:20301301|PMID:23261302|PMID:23891469|PMID:24033266|PMID:24498942|PMID:25640679|PMID:25741868|PMID:25802884|PMID:28492532|PMID:32253119|PMID:9536098 12170003 ZNF484 zinc finger protein 484 gene DOID:630 genetic disease ISO RGD:1350077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12170023 FBLN2 fibulin 2 gene DOID:0060417 3p deletion syndrome ISO RGD:1345931 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12170023 FBLN2 fibulin 2 gene DOID:630 genetic disease ISO RGD:1345931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12170023 FBLN2 fibulin 2 gene DOID:9004657 Weight Gain ISO RGD:1345931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12170023 FBLN2 fibulin 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 12170047 CCR8 C-C motif chemokine receptor 8 gene DOID:1824 status epilepticus ISO RGD:1312592 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17181556 12170047 CCR8 C-C motif chemokine receptor 8 gene DOID:2841 asthma ISO RGD:1304893 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 12170047 CCR8 C-C motif chemokine receptor 8 gene DOID:3770 pulmonary fibrosis ISO RGD:1304893 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 12170047 CCR8 C-C motif chemokine receptor 8 gene DOID:630 genetic disease ISO RGD:1312592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12170053 MOCS3 molybdenum cofactor synthesis 3 gene DOID:0080557 congenital disorder of glycosylation Ie ISO RGD:1316006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E PMID:10642597|PMID:10642602|PMID:28492532 12170053 MOCS3 molybdenum cofactor synthesis 3 gene DOID:630 genetic disease ISO RGD:1316006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12170053 MOCS3 molybdenum cofactor synthesis 3 gene DOID:9008386 Hydrops Fetalis ISO RGD:1316006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 12170058 GLRA3 glycine receptor alpha 3 gene DOID:4001 ovarian carcinoma ISO RGD:732840 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 12170058 GLRA3 glycine receptor alpha 3 gene DOID:630 genetic disease ISO RGD:732840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12170058 GLRA3 glycine receptor alpha 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12170079 ITPR2 inositol 1,4,5-trisphosphate receptor type 2 gene DOID:0060603 isolated anhidrosis with normal sweat glands ISO RGD:734228 D RGD:7240710 20180130 OMIM 12170079 ITPR2 inositol 1,4,5-trisphosphate receptor type 2 gene DOID:0060603 isolated anhidrosis with normal sweat glands ISO RGD:734228 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated anhidrosis with normal sweat glands PMID:25329695|PMID:25741868|PMID:28492532 12170079 ITPR2 inositol 1,4,5-trisphosphate receptor type 2 gene DOID:1059 intellectual disability ISO RGD:734228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12170079 ITPR2 inositol 1,4,5-trisphosphate receptor type 2 gene DOID:332 amyotrophic lateral sclerosis susceptibility ISO RGD:734228 D RGD:9068941 20200609 RGD DNA:snp:intron:g.26636386A>G rs2306677 (human) PMID:17827064|REF_RGD_ID:6482791 12170079 ITPR2 inositol 1,4,5-trisphosphate receptor type 2 gene DOID:630 genetic disease ISO RGD:734228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12170079 ITPR2 inositol 1,4,5-trisphosphate receptor type 2 gene DOID:9003936 Cardiomegaly ISO RGD:734228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20616315 12170079 ITPR2 inositol 1,4,5-trisphosphate receptor type 2 gene DOID:9004756 Brain Hypoxia ISO RGD:734228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17285299 12170079 ITPR2 inositol 1,4,5-trisphosphate receptor type 2 gene DOID:9004756 Brain Hypoxia ISO RGD:737250 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebellum (mouse) PMID:17285299|REF_RGD_ID:6482794 12170145 TMEM68 transmembrane protein 68 gene DOID:630 genetic disease ISO RGD:1603902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12170204 DUSP19 dual specificity phosphatase 19 gene DOID:13938 amenorrhea ISO RGD:1316661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12170204 DUSP19 dual specificity phosphatase 19 gene DOID:630 genetic disease ISO RGD:1316661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12170212 TTLL10 tubulin tyrosine ligase like 10 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1602419 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12170212 TTLL10 tubulin tyrosine ligase like 10 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602419 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12170212 TTLL10 tubulin tyrosine ligase like 10 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1602419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12170212 TTLL10 tubulin tyrosine ligase like 10 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1602419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12170212 TTLL10 tubulin tyrosine ligase like 10 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1602419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12170212 TTLL10 tubulin tyrosine ligase like 10 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1602419 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12170212 TTLL10 tubulin tyrosine ligase like 10 gene DOID:0111934 immunodeficiency 38 ISO RGD:1602419 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12170212 TTLL10 tubulin tyrosine ligase like 10 gene DOID:0111935 immunodeficiency 16 ISO RGD:1602419 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12170212 TTLL10 tubulin tyrosine ligase like 10 gene DOID:630 genetic disease ISO RGD:1602419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12170212 TTLL10 tubulin tyrosine ligase like 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12170212 TTLL10 tubulin tyrosine ligase like 10 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1602419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12170212 TTLL10 tubulin tyrosine ligase like 10 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1602419 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12170246 CFHR5 complement factor H related 5 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1349013 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:16299065|PMID:17000000|PMID:19365580|PMID:24033266|PMID:25741868|PMID:28492532 12170246 CFHR5 complement factor H related 5 gene DOID:0110358 retinitis pigmentosa 12 ISO RGD:1349013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:10508521|PMID:17964524|PMID:22065545|PMID:23379534|PMID:25412400|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521 12170246 CFHR5 complement factor H related 5 gene DOID:13580 cholestasis ISO RGD:1349013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12170246 CFHR5 complement factor H related 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1349013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12170246 CFHR5 complement factor H related 5 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1349013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis, type II PMID:25741868|PMID:28492532 12170246 CFHR5 complement factor H related 5 gene DOID:557 kidney disease ISO RGD:1349013 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:22622361|PMID:25741868|PMID:28492532 12170246 CFHR5 complement factor H related 5 gene DOID:630 genetic disease ISO RGD:1349013 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12170246 CFHR5 complement factor H related 5 gene DOID:784 chronic kidney disease ISO RGD:1349013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:17000000|PMID:22503529|PMID:22527104|PMID:24033266|PMID:25260719|PMID:25741868|PMID:28054583|PMID:28492532|PMID:28750028|PMID:30295827|PMID:31664448|PMID:32723786 12170246 CFHR5 complement factor H related 5 gene DOID:9008867 C3 Glomerulopathy 3 ISO RGD:1349013 D RGD:7240710 20180130 OMIM 12170246 CFHR5 complement factor H related 5 gene DOID:9008867 C3 Glomerulopathy 3 ISO RGD:1349013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II | ClinVar Annotator: match by term: CFHR5 NEPHROPATHY | ClinVar Annotator: match by term: CFHR5 deficiency PMID:16299065|PMID:17000000|PMID:19365580|PMID:20513133|PMID:20800271|PMID:22503529|PMID:22527104|PMID:22622361|PMID:24033266|PMID:25260719|PMID:25741868|PMID:28054583|PMID:28492532|PMID:28750028|PMID:30295827|PMID:31664448|PMID:32723786|PMID:32928961 12170246 CFHR5 complement factor H related 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12170264 TRAPPC14 trafficking protein particle complex subunit 14 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12170264 TRAPPC14 trafficking protein particle complex subunit 14 gene DOID:9003084 Primary Autosomal Recessive Microcephaly 25 ISO RGD:1605367 D RGD:7240710 20190315 OMIM 12170264 TRAPPC14 trafficking protein particle complex subunit 14 gene DOID:9003084 Primary Autosomal Recessive Microcephaly 25 ISO RGD:1605367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 25, primary, autosomal recessive PMID:25741868|PMID:30715179 12170279 EAF2 ELL associated factor 2 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:736664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12170279 EAF2 ELL associated factor 2 gene DOID:0080600 COVID-19 ISO RGD:736664 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12170279 EAF2 ELL associated factor 2 gene DOID:10283 prostate cancer ISO RGD:736664 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:12907652|REF_RGD_ID:634486 12170279 EAF2 ELL associated factor 2 gene DOID:630 genetic disease ISO RGD:736664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12170279 EAF2 ELL associated factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:736664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20564326 12170279 EAF2 ELL associated factor 2 gene DOID:707 B-cell lymphoma ISO RGD:736664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20564326 12170279 EAF2 ELL associated factor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20564326 12170279 EAF2 ELL associated factor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:736664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20564326 12170279 EAF2 ELL associated factor 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:736664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12170279 EAF2 ELL associated factor 2 gene DOID:9270 alkaptonuria ISO RGD:736664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12170289 MEI1 meiotic double-stranded break formation protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1642765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12170289 MEI1 meiotic double-stranded break formation protein 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1642765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 12170289 MEI1 meiotic double-stranded break formation protein 1 gene DOID:630 genetic disease ISO RGD:1642765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12170289 MEI1 meiotic double-stranded break formation protein 1 gene DOID:9005301 Hydatidiform Mole, Recurrent, 3 ISO RGD:1642765 D RGD:7240710 20190612 OMIM 12170289 MEI1 meiotic double-stranded break formation protein 1 gene DOID:9005301 Hydatidiform Mole, Recurrent, 3 ISO RGD:1642765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 3 PMID:25741868|PMID:30388401 12170334 CPNE9 copine family member 9 gene DOID:2843 long QT syndrome ISO RGD:1604226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12170334 CPNE9 copine family member 9 gene DOID:630 genetic disease ISO RGD:1604226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12170334 CPNE9 copine family member 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12170334 CPNE9 copine family member 9 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1604226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12170359 CNR2 cannabinoid receptor 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:732246 D RGD:9068941 20210212 CTD CTD Direct Evidence: therapeutic PMID:30102254 12170359 CNR2 cannabinoid receptor 2 gene DOID:11446 sciatic neuropathy treatment ISO RGD:619713 D RGD:9068941 20200609 RGD PMID:19345493|REF_RGD_ID:2316195 12170359 CNR2 cannabinoid receptor 2 gene DOID:12858 Huntington's disease ISO RGD:1553231 D RGD:9068941 20200609 RGD PMID:19115380|REF_RGD_ID:2316196 12170359 CNR2 cannabinoid receptor 2 gene DOID:12858 Huntington's disease ISO RGD:619713 D RGD:9068941 20200609 RGD PMID:19115380|REF_RGD_ID:2316196 12170359 CNR2 cannabinoid receptor 2 gene DOID:13250 diarrhea ISO RGD:732246 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:27611972 12170359 CNR2 cannabinoid receptor 2 gene DOID:13548 secondary Parkinson disease ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27317300 12170359 CNR2 cannabinoid receptor 2 gene DOID:13580 cholestasis ISO RGD:732246 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:26884397 12170359 CNR2 cannabinoid receptor 2 gene DOID:1596 depressive disorder ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18286196 12170359 CNR2 cannabinoid receptor 2 gene DOID:1793 pancreatic cancer ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16818650 12170359 CNR2 cannabinoid receptor 2 gene DOID:1936 atherosclerosis ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15815632 12170359 CNR2 cannabinoid receptor 2 gene DOID:2055 post-traumatic stress disorder ISO RGD:732246 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:34262461 12170359 CNR2 cannabinoid receptor 2 gene DOID:2914 immune system disease ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16924491 12170359 CNR2 cannabinoid receptor 2 gene DOID:418 systemic scleroderma ISO RGD:732246 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27228633 12170359 CNR2 cannabinoid receptor 2 gene DOID:4195 hyperglycemia ISO RGD:732246 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:32365865 12170359 CNR2 cannabinoid receptor 2 gene DOID:4989 pancreatitis ISO RGD:619713 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas, acinar cell PMID:19070664|REF_RGD_ID:2316197 12170359 CNR2 cannabinoid receptor 2 gene DOID:4989 pancreatitis ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17484889 12170359 CNR2 cannabinoid receptor 2 gene DOID:5082 liver cirrhosis ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15765409 12170359 CNR2 cannabinoid receptor 2 gene DOID:630 genetic disease ISO RGD:732246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12170359 CNR2 cannabinoid receptor 2 gene DOID:848 arthritis ISO RGD:619713 D RGD:9068941 20200609 RGD PMID:18075852|REF_RGD_ID:2316223 12170359 CNR2 cannabinoid receptor 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:619713 D RGD:9068941 20200609 RGD PMID:18930143|REF_RGD_ID:2316199 12170359 CNR2 cannabinoid receptor 2 gene DOID:9000641 Pain ISO RGD:619713 D RGD:9068941 20200609 RGD PMID:19409856|REF_RGD_ID:2316193 12170359 CNR2 cannabinoid receptor 2 gene DOID:9000920 Anterior Cruciate Ligament Injuries ISO RGD:732246 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34537380 12170359 CNR2 cannabinoid receptor 2 gene DOID:9001981 Weight Loss ISO RGD:732246 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:27611972|PMID:30102254 12170359 CNR2 cannabinoid receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17572696|PMID:18664590 12170359 CNR2 cannabinoid receptor 2 gene DOID:9003805 Catalepsy ISO RGD:732246 D RGD:9068941 20201218 CTD CTD Direct Evidence: therapeutic PMID:31877572 12170359 CNR2 cannabinoid receptor 2 gene DOID:9006205 Animal Disease Models ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27317300 12170359 CNR2 cannabinoid receptor 2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:732246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12170359 CNR2 cannabinoid receptor 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:732246 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:29805589 12170359 CNR2 cannabinoid receptor 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:619713 D RGD:9068941 20200609 RGD PMID:17950273|REF_RGD_ID:2316224 12170359 CNR2 cannabinoid receptor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16818634 12170359 CNR2 cannabinoid receptor 2 gene DOID:9009039 Hyperemia ISO RGD:732246 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:27611972 12170359 CNR2 cannabinoid receptor 2 gene DOID:9119 acute myeloid leukemia ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15039279 12170374 STRN striatin gene DOID:630 genetic disease ISO RGD:736385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12170374 STRN striatin gene DOID:9000998 Brain Injuries ISO RGD:3782 D RGD:9068941 20200609 RGD PMID:16351572|REF_RGD_ID:2311293 12170414 ATP8A2 ATPase phospholipid transporting 8A2 gene DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ISO RGD:1344629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysequilibrium syndrome PMID:25741868 12170414 ATP8A2 ATPase phospholipid transporting 8A2 gene DOID:1826 epilepsy ISO RGD:1344629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12170414 ATP8A2 ATPase phospholipid transporting 8A2 gene DOID:630 genetic disease ISO RGD:1344629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28454995|PMID:28492532|PMID:29531481|PMID:31612321 12170414 ATP8A2 ATPase phospholipid transporting 8A2 gene DOID:9006313 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 ISO RGD:1344629 D RGD:7240710 20180130 OMIM 12170414 ATP8A2 ATPase phospholipid transporting 8A2 gene DOID:9006313 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 ISO RGD:1344629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 PMID:16199547|PMID:18326629|PMID:22892528|PMID:25741868|PMID:28454995|PMID:28492532|PMID:29531481|PMID:31397519|PMID:31612321 12170473 MKRN3 makorin ring finger protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1322529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 12170473 MKRN3 makorin ring finger protein 3 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1322529 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 12170473 MKRN3 makorin ring finger protein 3 gene DOID:0112309 central precocious puberty 2 ISO RGD:1322529 D RGD:7240710 20180130 OMIM 12170473 MKRN3 makorin ring finger protein 3 gene DOID:0112309 central precocious puberty 2 ISO RGD:1322529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Precocious puberty, central, 2 PMID:23738509|PMID:25741868|PMID:26431553|PMID:28672280 12170473 MKRN3 makorin ring finger protein 3 gene DOID:11983 Prader-Willi syndrome ISO RGD:1322529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 12170473 MKRN3 makorin ring finger protein 3 gene DOID:12849 autistic disorder ISO RGD:1322529 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 12170473 MKRN3 makorin ring finger protein 3 gene DOID:1932 Angelman syndrome ISO RGD:1322529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:26633545 12170473 MKRN3 makorin ring finger protein 3 gene DOID:5419 schizophrenia ISO RGD:1322529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12170473 MKRN3 makorin ring finger protein 3 gene DOID:630 genetic disease ISO RGD:1322529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12170473 MKRN3 makorin ring finger protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12170473 MKRN3 makorin ring finger protein 3 gene DOID:9007284 Precocious Puberty ISO RGD:1322529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23738509 12170532 C12H6orf120 chromosome 12 C6orf120 homolog gene DOID:630 genetic disease ISO RGD:1348768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12170546 CAR1 syncytin-Car1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12170546 CAR1 syncytin-Car1 gene DOID:630 genetic disease ISO RGD:1345054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12170583 ADAM2 ADAM metallopeptidase domain 2 gene DOID:10652 Alzheimer's disease ISO RGD:69085 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:10686596|REF_RGD_ID:10047127 12170583 ADAM2 ADAM metallopeptidase domain 2 gene DOID:630 genetic disease ISO RGD:69085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12170583 ADAM2 ADAM metallopeptidase domain 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:69299 D RGD:9068941 20200609 RGD PMID:11967014|REF_RGD_ID:10047130 12170610 CFAP68 cilia and flagella associated protein 68 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1345294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 12170610 CFAP68 cilia and flagella associated protein 68 gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:1345294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:25966638|PMID:28492532 12170610 CFAP68 cilia and flagella associated protein 68 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1345294 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 12170610 CFAP68 cilia and flagella associated protein 68 gene DOID:1059 intellectual disability ISO RGD:1345294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12170610 CFAP68 cilia and flagella associated protein 68 gene DOID:12704 ataxia telangiectasia ISO RGD:1345294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12170610 CFAP68 cilia and flagella associated protein 68 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12170610 CFAP68 cilia and flagella associated protein 68 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1345294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 12170633 TBK1 TANK binding kinase 1 gene DOID:0081013 severe COVID-19 ISO RGD:1313752 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 PMID:25741868|PMID:28492532 12170633 TBK1 TANK binding kinase 1 gene DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis-4 ISO RGD:1313752 D RGD:7240710 20230517 OMIM 12170633 TBK1 TANK binding kinase 1 gene DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis-4 ISO RGD:1313752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 PMID:16199547|PMID:17576681|PMID:21447600|PMID:23453972|PMID:24033266|PMID:25700176|PMID:25741868|PMID:25803835|PMID:25943890|PMID:26476236|PMID:26581300|PMID:26804609|PMID:27156075|PMID:27892983|PMID:28008748|PMID:28089114|PMID:28365590|PMID:28492532|PMID:28822984|PMID:29146049|PMID:29398122|PMID:30033073|PMID:30739198|PMID:31000212|PMID:31244341|PMID:31475037|PMID:31498468|PMID:31748271|PMID:31914217|PMID:31996268|PMID:32317127|PMID:32409511|PMID:32447396|PMID:32579787|PMID:32638105|PMID:32772249|PMID:32980182|PMID:33208543|PMID:33245169|PMID:34363755|PMID:9536098 12170633 TBK1 TANK binding kinase 1 gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:1313752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:25741868 12170633 TBK1 TANK binding kinase 1 gene DOID:1070 primary open angle glaucoma ISO RGD:1313752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532 12170633 TBK1 TANK binding kinase 1 gene DOID:231 motor neuron disease ISO RGD:1313752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:21447600|PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:26804609|PMID:28089114|PMID:28492532|PMID:31996268|PMID:32317127 12170633 TBK1 TANK binding kinase 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1313752 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26861016 12170633 TBK1 TANK binding kinase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1313752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:16199547|PMID:25741868|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532|PMID:33245169 12170633 TBK1 TANK binding kinase 1 gene DOID:630 genetic disease ISO RGD:1313752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12170633 TBK1 TANK binding kinase 1 gene DOID:9000417 Glaucoma 1, Open Angle, P ISO RGD:1313752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, P PMID:24033266|PMID:25741868|PMID:28492532 12170633 TBK1 TANK binding kinase 1 gene DOID:9003457 Primary Progressive Nonfluent Aphasia ISO RGD:1313752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary progressive non fluent aphasia 12170633 TBK1 TANK binding kinase 1 gene DOID:9009143 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 8 ISO RGD:1313752 D RGD:7240710 20230517 OMIM 12170633 TBK1 TANK binding kinase 1 gene DOID:9009143 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 8 ISO RGD:1313752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 PMID:22851595|PMID:25741868|PMID:26513235|PMID:28492532|PMID:30033073|PMID:31244341 12170661 ZSWIM1 zinc finger SWIM-type containing 1 gene DOID:2234 focal epilepsy ISO RGD:1313910 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12170661 ZSWIM1 zinc finger SWIM-type containing 1 gene DOID:630 genetic disease ISO RGD:1313910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12170661 ZSWIM1 zinc finger SWIM-type containing 1 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12170667 MRTO4 MRT4 homolog, ribosome maturation factor gene DOID:0060369 Parkinson's disease 6 ISO RGD:1323307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12170667 MRTO4 MRT4 homolog, ribosome maturation factor gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1323307 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12170667 MRTO4 MRT4 homolog, ribosome maturation factor gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1323307 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12170667 MRTO4 MRT4 homolog, ribosome maturation factor gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1323307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12170667 MRTO4 MRT4 homolog, ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1323307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12170667 MRTO4 MRT4 homolog, ribosome maturation factor gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1323307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12170679 SYNE4 spectrin repeat containing nuclear envelope family member 4 gene DOID:0050563 nonsyndromic deafness ISO RGD:1602427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness PMID:23348741|PMID:24033266|PMID:28492532|PMID:28958982 12170679 SYNE4 spectrin repeat containing nuclear envelope family member 4 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1602427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12170679 SYNE4 spectrin repeat containing nuclear envelope family member 4 gene DOID:0110524 autosomal recessive nonsyndromic deafness 76 ISO RGD:1602427 D RGD:7240710 20180130 OMIM 12170679 SYNE4 spectrin repeat containing nuclear envelope family member 4 gene DOID:0110524 autosomal recessive nonsyndromic deafness 76 ISO RGD:1602427 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 76 PMID:23348741|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28958982|PMID:35802133|PMID:36633841 12170679 SYNE4 spectrin repeat containing nuclear envelope family member 4 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1602427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12170679 SYNE4 spectrin repeat containing nuclear envelope family member 4 gene DOID:630 genetic disease ISO RGD:1602427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12170706 LOC100685226 zinc finger protein 347 gene DOID:630 genetic disease ISO RGD:1342737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12170771 EEF1A1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:0080600 COVID-19 ISO RGD:68966 D RGD:9068941 20200709 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 12170771 EEF1A1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:305 carcinoma ISO RGD:68966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12170771 EEF1A1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:3659 sialuria ISO RGD:68966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 12170771 EEF1A1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:68966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 12170771 EEF1A1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:68966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12170771 EEF1A1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:67387 D RGD:9068941 20200609 RGD PMID:25435813|REF_RGD_ID:13506963 12170771 EEF1A1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12170771 EEF1A1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:9007730 Burns ISO RGD:67387 D RGD:9068941 20200609 RGD protein:decreased expression:heart,mitochondrion: PMID:23041468|REF_RGD_ID:10401126 12170783 DLD dihydrolipoamide dehydrogenase gene DOID:0112230 lissencephaly 5 ISO RGD:1348290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly 5 PMID:25741868|PMID:28492532 12170783 DLD dihydrolipoamide dehydrogenase gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:1348290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency PMID:25741868|PMID:28492532 12170783 DLD dihydrolipoamide dehydrogenase gene DOID:3652 Leigh disease ISO RGD:1348290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:25741868|PMID:28492532 12170783 DLD dihydrolipoamide dehydrogenase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12170783 DLD dihydrolipoamide dehydrogenase gene DOID:630 genetic disease ISO RGD:1348290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11186938|PMID:11687750|PMID:14765544|PMID:15712224|PMID:15946682|PMID:16442803|PMID:16601893|PMID:16770810|PMID:17125710|PMID:18362926|PMID:20672374|PMID:21558426|PMID:21930696|PMID:23290025|PMID:23478190|PMID:23995961|PMID:24012808|PMID:24516753|PMID:25741868|PMID:27144126|PMID:27290639|PMID:27544700|PMID:28492532|PMID:9540846|PMID:9934985 12170783 DLD dihydrolipoamide dehydrogenase gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1348290 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:28492532 12170783 DLD dihydrolipoamide dehydrogenase gene DOID:9002135 Congenital Infantile Lactic Acidosis due to LAD Deficiency ISO RGD:1348290 D RGD:7240710 20180130 OMIM 12170783 DLD dihydrolipoamide dehydrogenase gene DOID:9002135 Congenital Infantile Lactic Acidosis due to LAD Deficiency ISO RGD:1348290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DLD DEFICIENCY | ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to | ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, TYPE III | ClinVar Annotator: match by term: Maple syrup urine disease, type 3 PMID:10448086|PMID:11186938|PMID:11687750|PMID:12925875|PMID:1347528|PMID:14765544|PMID:15712224|PMID:15946682|PMID:16199547|PMID:1640293|PMID:16442803|PMID:16601893|PMID:16770810|PMID:17125710|PMID:17404228|PMID:17576681|PMID:18362926|PMID:20652410|PMID:20672374|PMID:21558426|PMID:21930696|PMID:21996136|PMID:23290025|PMID:23478190|PMID:23995961|PMID:24012808|PMID:24516753|PMID:25251739|PMID:25356417|PMID:25741868|PMID:25741884|PMID:27144126|PMID:27290639|PMID:27544700|PMID:27896107|PMID:28492532|PMID:31334547|PMID:31683770|PMID:33092611|PMID:33306821|PMID:3769994|PMID:7797549|PMID:8506365|PMID:8652022|PMID:8968745|PMID:9298831|PMID:9536098|PMID:9540846|PMID:9934985 12170783 DLD dihydrolipoamide dehydrogenase gene DOID:9269 maple syrup urine disease ISO RGD:1348290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:25741868|PMID:28492532 12170801 CCDC112 coiled-coil domain containing 112 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606143 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12170801 CCDC112 coiled-coil domain containing 112 gene DOID:12849 autistic disorder ISO RGD:1606143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12170801 CCDC112 coiled-coil domain containing 112 gene DOID:630 genetic disease ISO RGD:1606143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12170801 CCDC112 coiled-coil domain containing 112 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12170801 CCDC112 coiled-coil domain containing 112 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606143 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12170815 TECRL trans-2,3-enoyl-CoA reductase like gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1604717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12170815 TECRL trans-2,3-enoyl-CoA reductase like gene DOID:0060677 catecholaminergic polymorphic ventricular tachycardia 3 ISO RGD:1604717 D RGD:7240710 20190315 OMIM 12170815 TECRL trans-2,3-enoyl-CoA reductase like gene DOID:0060677 catecholaminergic polymorphic ventricular tachycardia 3 ISO RGD:1604717 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 3 PMID:17666061|PMID:25741868|PMID:27861123|PMID:30790670|PMID:31737537|PMID:32173957|PMID:33367594 12170815 TECRL trans-2,3-enoyl-CoA reductase like gene DOID:2843 long QT syndrome ISO RGD:1604717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:27861123|PMID:30790670 12170815 TECRL trans-2,3-enoyl-CoA reductase like gene DOID:630 genetic disease ISO RGD:1604717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12170815 TECRL trans-2,3-enoyl-CoA reductase like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12170836 CDKN2C cyclin dependent kinase inhibitor 2C gene DOID:3948 adrenocortical carcinoma ISO RGD:1604405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 12170836 CDKN2C cyclin dependent kinase inhibitor 2C gene DOID:630 genetic disease ISO RGD:1604405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12170836 CDKN2C cyclin dependent kinase inhibitor 2C gene DOID:684 hepatocellular carcinoma ISO RGD:1604405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12170836 CDKN2C cyclin dependent kinase inhibitor 2C gene DOID:9538 multiple myeloma ISO RGD:1604405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12170843 CYRIA CYFIP related Rac1 interactor A gene DOID:5723 optic atrophy ISO RGD:1348694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:32581362 12170843 CYRIA CYFIP related Rac1 interactor A gene DOID:630 genetic disease ISO RGD:1348694 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12170843 CYRIA CYFIP related Rac1 interactor A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12170863 TMEM147 transmembrane protein 147 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1607077 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12170863 TMEM147 transmembrane protein 147 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1607077 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12170863 TMEM147 transmembrane protein 147 gene DOID:1059 intellectual disability ISO RGD:1607077 D RGD:8554872 20221122 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:36044892 12170863 TMEM147 transmembrane protein 147 gene DOID:543 dystonia ISO RGD:1607077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12170863 TMEM147 transmembrane protein 147 gene DOID:630 genetic disease ISO RGD:1607077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12170863 TMEM147 transmembrane protein 147 gene DOID:9007224 Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly ISO RGD:1607077 D RGD:7240710 20221102 OMIM 12170863 TMEM147 transmembrane protein 147 gene DOID:9007224 Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly ISO RGD:1607077 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly PMID:25741868|PMID:36044892 12170874 LSMEM2 leucine rich single-pass membrane protein 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12170874 LSMEM2 leucine rich single-pass membrane protein 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12170874 LSMEM2 leucine rich single-pass membrane protein 2 gene DOID:630 genetic disease ISO RGD:1602071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12170874 LSMEM2 leucine rich single-pass membrane protein 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1602071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12170874 LSMEM2 leucine rich single-pass membrane protein 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1602071 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12170882 L3MBTL1 L3MBTL histone methyl-lysine binding protein 1 gene DOID:1612 breast cancer severity ISO RGD:1344736 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast (human) PMID:21837478|REF_RGD_ID:9588606 12170882 L3MBTL1 L3MBTL histone methyl-lysine binding protein 1 gene DOID:2234 focal epilepsy ISO RGD:1344736 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12170882 L3MBTL1 L3MBTL histone methyl-lysine binding protein 1 gene DOID:630 genetic disease ISO RGD:1344736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12170907 SCLY selenocysteine lyase gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1343598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12170907 SCLY selenocysteine lyase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1343598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12170907 SCLY selenocysteine lyase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1343598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12170907 SCLY selenocysteine lyase gene DOID:1059 intellectual disability ISO RGD:1343598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12170907 SCLY selenocysteine lyase gene DOID:630 genetic disease ISO RGD:1343598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12170907 SCLY selenocysteine lyase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1343598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12170928 SVIL supervillin gene DOID:0112108 myofibrillar myopathy 10 ISO RGD:1314924 D RGD:7240710 20201021 OMIM 12170928 SVIL supervillin gene DOID:0112108 myofibrillar myopathy 10 ISO RGD:1314924 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 10 PMID:25741868|PMID:28492532|PMID:32779703 12170928 SVIL supervillin gene DOID:630 genetic disease ISO RGD:1314924 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12170928 SVIL supervillin gene DOID:684 hepatocellular carcinoma ISO RGD:1314924 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 12170928 SVIL supervillin gene DOID:9119 acute myeloid leukemia ISO RGD:1314924 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12170999 USP13 ubiquitin specific peptidase 13 gene DOID:0111546 Currarino syndrome ISO RGD:1314436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12170999 USP13 ubiquitin specific peptidase 13 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1314436 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 12170999 USP13 ubiquitin specific peptidase 13 gene DOID:37 skin disease ISO RGD:1314436 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12170999 USP13 ubiquitin specific peptidase 13 gene DOID:630 genetic disease ISO RGD:1314436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12170999 USP13 ubiquitin specific peptidase 13 gene DOID:9007964 Arsenic Poisoning ISO RGD:1314436 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12171024 RNF25 ring finger protein 25 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1323079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12171024 RNF25 ring finger protein 25 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1323079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12171024 RNF25 ring finger protein 25 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1323079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12171024 RNF25 ring finger protein 25 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1323079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12171024 RNF25 ring finger protein 25 gene DOID:630 genetic disease ISO RGD:1323079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171024 RNF25 ring finger protein 25 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12171038 MAGEE2 MAGE family member E2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12171038 MAGEE2 MAGE family member E2 gene DOID:12849 autistic disorder ISO RGD:1346034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12171038 MAGEE2 MAGE family member E2 gene DOID:630 genetic disease ISO RGD:1346034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171043 PRDM13 PR/SET domain 13 gene DOID:630 genetic disease ISO RGD:1322406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12171043 PRDM13 PR/SET domain 13 gene DOID:8501 fundus dystrophy ISO RGD:1322406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 12171043 PRDM13 PR/SET domain 13 gene DOID:9001226 Retinal Macular Dystrophy 1, North Carolina Type ISO RGD:1322406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy retinal 1 North Carolina type | ClinVar Annotator: match by term: North Carolina macular dystrophy PMID:10617775|PMID:25741868|PMID:26507665|PMID:27551809|PMID:28492532|PMID:28790370|PMID:31043363|PMID:31814698|PMID:32476814|PMID:9238090|PMID:9801042|PMID:9924305 12171043 PRDM13 PR/SET domain 13 gene DOID:9002530 pontocerebellar hypoplasia type 17 ISO RGD:1322406 D RGD:7240710 20220629 OMIM 12171043 PRDM13 PR/SET domain 13 gene DOID:9002530 pontocerebellar hypoplasia type 17 ISO RGD:1322406 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 PMID:35390279 12171043 PRDM13 PR/SET domain 13 gene DOID:9003751 CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM ISO RGD:1322406 D RGD:7240710 20220316 OMIM 12171043 PRDM13 PR/SET domain 13 gene DOID:9003751 CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM ISO RGD:1322406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism PMID:34730112 12171053 EFCAB14 EF-hand calcium binding domain 14 gene DOID:630 genetic disease ISO RGD:1605111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171068 PPP1R3B protein phosphatase 1 regulatory subunit 3B gene DOID:630 genetic disease ISO RGD:1344962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171068 PPP1R3B protein phosphatase 1 regulatory subunit 3B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12171068 PPP1R3B protein phosphatase 1 regulatory subunit 3B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12171082 PHOX2A paired like homeobox 2A gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:733682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:19732866|PMID:22586289|PMID:28492532 12171082 PHOX2A paired like homeobox 2A gene DOID:0081016 congenital fibrosis of the extraocular muscles 2 ISO RGD:733682 D RGD:7240710 20180130 OMIM 12171082 PHOX2A paired like homeobox 2A gene DOID:0081016 congenital fibrosis of the extraocular muscles 2 ISO RGD:733682 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 2 PMID:11600883|PMID:25741868 12171082 PHOX2A paired like homeobox 2A gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:733682 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12171082 PHOX2A paired like homeobox 2A gene DOID:1059 intellectual disability ISO RGD:733682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12171082 PHOX2A paired like homeobox 2A gene DOID:630 genetic disease ISO RGD:733682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171082 PHOX2A paired like homeobox 2A gene DOID:9000784 Fibrosis ISO RGD:733682 D RGD:9068941 20200609 RGD PMID:11600883|REF_RGD_ID:1599902 12171082 PHOX2A paired like homeobox 2A gene DOID:9352 type 2 diabetes mellitus ISO RGD:733683 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 12171090 ERICH6 glutamate rich 6 gene DOID:0050579 glycogen storage disease XV ISO RGD:1605578 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12171090 ERICH6 glutamate rich 6 gene DOID:630 genetic disease ISO RGD:1605578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171108 SLC2A10 solute carrier family 2 member 10 gene DOID:0050645 arterial tortuosity syndrome ISO RGD:1315233 D RGD:7240710 20180130 OMIM 12171108 SLC2A10 solute carrier family 2 member 10 gene DOID:0050645 arterial tortuosity syndrome ISO RGD:1315233 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arterial tortuosity syndrome PMID:12801113|PMID:14569121|PMID:16199547|PMID:16550171|PMID:17163528|PMID:17576681|PMID:17935213|PMID:18565096|PMID:18774132|PMID:18818946|PMID:19028722|PMID:19622975|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23410549|PMID:23494979|PMID:24033266|PMID:25326637|PMID:25373504|PMID:25741868|PMID:25907466|PMID:25944730|PMID:27153185|PMID:28492532|PMID:28726533|PMID:28829359|PMID:28855619|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:30425910|PMID:32368696|PMID:33144682|PMID:34668355|PMID:9536098 12171108 SLC2A10 solute carrier family 2 member 10 gene DOID:0060797 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:1315233 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome PMID:24033266|PMID:25326637|PMID:25741868|PMID:25944730|PMID:28492532 12171108 SLC2A10 solute carrier family 2 member 10 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1315233 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve PMID:25741868|PMID:28492532 12171108 SLC2A10 solute carrier family 2 member 10 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1315233 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:14569121|PMID:16550171|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25741868|PMID:25944730|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:33144682|PMID:34668355|PMID:9536098 12171108 SLC2A10 solute carrier family 2 member 10 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1315233 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:14569121|PMID:16550171|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25326637|PMID:25741868|PMID:25944730|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:33144682|PMID:34668355|PMID:9536098 12171108 SLC2A10 solute carrier family 2 member 10 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1315233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12171108 SLC2A10 solute carrier family 2 member 10 gene DOID:2234 focal epilepsy ISO RGD:1315233 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12171108 SLC2A10 solute carrier family 2 member 10 gene DOID:630 genetic disease ISO RGD:1315233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12171108 SLC2A10 solute carrier family 2 member 10 gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1315233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:25741868|PMID:28492532 12171108 SLC2A10 solute carrier family 2 member 10 gene DOID:9005890 Disproportionate Tall Stature ISO RGD:1315233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature 12171108 SLC2A10 solute carrier family 2 member 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1315233 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 12171108 SLC2A10 solute carrier family 2 member 10 gene DOID:9009005 Familial Thoracic Aortic Aneurysm 2 ISO RGD:1315233 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 PMID:25741868|PMID:28492532 12171127 HS3ST2 heparan sulfate-glucosamine 3-sulfotransferase 2 gene DOID:1324 lung cancer ISO RGD:1346040 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:12527896|REF_RGD_ID:2317633 12171127 HS3ST2 heparan sulfate-glucosamine 3-sulfotransferase 2 gene DOID:1793 pancreatic cancer ISO RGD:1346040 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:12527896|REF_RGD_ID:2317633 12171127 HS3ST2 heparan sulfate-glucosamine 3-sulfotransferase 2 gene DOID:219 colon cancer ISO RGD:1346040 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:12527896|REF_RGD_ID:2317633 12171127 HS3ST2 heparan sulfate-glucosamine 3-sulfotransferase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1346040 D RGD:9068941 20220708 RGD DNA:hypermethylation PMID:27777637|REF_RGD_ID:152998954 12171127 HS3ST2 heparan sulfate-glucosamine 3-sulfotransferase 2 gene DOID:630 genetic disease ISO RGD:1346040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171133 OR2H10 olfactory receptor family 2 subfamily H member 10 gene DOID:11372 megacolon ISO RGD:1348875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12171133 OR2H10 olfactory receptor family 2 subfamily H member 10 gene DOID:630 genetic disease ISO RGD:1348875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171137 RP2 RP2 activator of ARL3 GTPase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12171137 RP2 RP2 activator of ARL3 GTPase gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1345059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12171137 RP2 RP2 activator of ARL3 GTPase gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1345059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 PMID:17576681|PMID:20625056|PMID:23150612|PMID:25741868|PMID:28492532|PMID:28714225|PMID:32244552|PMID:9536098 12171137 RP2 RP2 activator of ARL3 GTPase gene DOID:0110415 retinitis pigmentosa 2 ISO RGD:1345059 D RGD:7240710 20180130 OMIM 12171137 RP2 RP2 activator of ARL3 GTPase gene DOID:0110415 retinitis pigmentosa 2 ISO RGD:1345059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 2 PMID:10053026|PMID:10090907|PMID:10520237|PMID:10862093|PMID:10937588|PMID:10942419|PMID:11262649|PMID:11462235|PMID:11826029|PMID:11992260|PMID:12037013|PMID:12657579|PMID:15032968|PMID:16199547|PMID:16472755|PMID:17093403|PMID:17576681|PMID:17724181|PMID:18376416|PMID:20021257|PMID:20106869|PMID:20625056|PMID:20669900|PMID:20729296|PMID:21738648|PMID:22072390|PMID:22334370|PMID:23150612|PMID:24033266|PMID:24938718|PMID:24940031|PMID:25097241|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28209709|PMID:28492532|PMID:30576320|PMID:30718709|PMID:31456290|PMID:31736247|PMID:32244552|PMID:33546218|PMID:34008892|PMID:34906488|PMID:9536098|PMID:9697692 12171137 RP2 RP2 activator of ARL3 GTPase gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1345059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders PMID:14985377|PMID:21441247|PMID:28492532 12171137 RP2 RP2 activator of ARL3 GTPase gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1345059 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12171137 RP2 RP2 activator of ARL3 GTPase gene DOID:10584 retinitis pigmentosa ISO RGD:1345059 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10053026|PMID:10090907|PMID:10862093|PMID:10937588|PMID:10942419|PMID:11262649|PMID:11992260|PMID:12657579|PMID:15032968|PMID:17724181|PMID:20021257|PMID:20625056|PMID:22334370|PMID:23150612|PMID:24033266|PMID:24938718|PMID:25097241|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28209709|PMID:28492532|PMID:29847639|PMID:30718709|PMID:31456290|PMID:9697692 12171137 RP2 RP2 activator of ARL3 GTPase gene DOID:10584 retinitis pigmentosa ISO RGD:1345059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10053026|PMID:10090907|PMID:10520237|PMID:10862093|PMID:10937588|PMID:10942419|PMID:11262649|PMID:11826029|PMID:11992260|PMID:12657579|PMID:15032968|PMID:17093403|PMID:17724181|PMID:20021257|PMID:20625056|PMID:22334370|PMID:23150612|PMID:24033266|PMID:24938718|PMID:25097241|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28209709|PMID:28492532|PMID:29847639|PMID:30718709|PMID:31456290|PMID:9697692 12171137 RP2 RP2 activator of ARL3 GTPase gene DOID:11612 polycystic ovary syndrome ISO RGD:1345059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12171137 RP2 RP2 activator of ARL3 GTPase gene DOID:12849 autistic disorder ISO RGD:1345059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12171137 RP2 RP2 activator of ARL3 GTPase gene DOID:14791 Leber congenital amaurosis ISO RGD:1345059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:17576681|PMID:28492532|PMID:28714225|PMID:9536098 12171137 RP2 RP2 activator of ARL3 GTPase gene DOID:630 genetic disease ISO RGD:1345059 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12171137 RP2 RP2 activator of ARL3 GTPase gene DOID:8501 fundus dystrophy ISO RGD:1345059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10053026|PMID:10090907|PMID:10520237|PMID:10937588|PMID:10942419|PMID:11262649|PMID:11826029|PMID:11992260|PMID:12657579|PMID:15032968|PMID:16199547|PMID:16472755|PMID:17093403|PMID:18376416|PMID:18552978|PMID:20021257|PMID:20625056|PMID:20669900|PMID:21738648|PMID:22072390|PMID:23150612|PMID:24940031|PMID:25097241|PMID:25133751|PMID:25356976|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28209709|PMID:28492532|PMID:30718709|PMID:31456290|PMID:32244552|PMID:32875684|PMID:9697692 12171137 RP2 RP2 activator of ARL3 GTPase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12171137 RP2 RP2 activator of ARL3 GTPase gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1345059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 12171137 RP2 RP2 activator of ARL3 GTPase gene DOID:9008296 Eye Abnormalities ISO RGD:1345059 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643 12171150 POF1B POF1B actin binding protein gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1351618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 12171150 POF1B POF1B actin binding protein gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12171150 POF1B POF1B actin binding protein gene DOID:0080859 primary ovarian insufficiency 2B ISO RGD:1351618 D RGD:7240710 20180130 OMIM 12171150 POF1B POF1B actin binding protein gene DOID:0080859 primary ovarian insufficiency 2B ISO RGD:1351618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 2B PMID:15459172|PMID:16773570|PMID:21940798|PMID:25676666|PMID:25741868|PMID:28492532 12171150 POF1B POF1B actin binding protein gene DOID:0112046 non-syndromic X-linked intellectual disability 97 ISO RGD:1351618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 97 12171150 POF1B POF1B actin binding protein gene DOID:12849 autistic disorder ISO RGD:1351618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12171150 POF1B POF1B actin binding protein gene DOID:5426 primary ovarian insufficiency ISO RGD:1351618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:15459172|PMID:16773570|PMID:21940798|PMID:25676666|PMID:25741868|PMID:28492532 12171150 POF1B POF1B actin binding protein gene DOID:630 genetic disease ISO RGD:1351618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171171 HS6ST2 heparan sulfate 6-O-sulfotransferase 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12171171 HS6ST2 heparan sulfate 6-O-sulfotransferase 2 gene DOID:0111843 Paganini-Miozzo syndrome ISO RGD:1605906 D RGD:7240710 20190626 OMIM 12171171 HS6ST2 heparan sulfate 6-O-sulfotransferase 2 gene DOID:0111843 Paganini-Miozzo syndrome ISO RGD:1605906 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Paganini-Miozzo syndrome PMID:25741868|PMID:28492532|PMID:30471091 12171171 HS6ST2 heparan sulfate 6-O-sulfotransferase 2 gene DOID:12849 autistic disorder ISO RGD:1605906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12171171 HS6ST2 heparan sulfate 6-O-sulfotransferase 2 gene DOID:630 genetic disease ISO RGD:1605906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12171186 MMP19 matrix metallopeptidase 19 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1322803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 12171186 MMP19 matrix metallopeptidase 19 gene DOID:0080600 COVID-19 ISO RGD:1322803 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12171186 MMP19 matrix metallopeptidase 19 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1322803 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell PMID:11438176|REF_RGD_ID:1642025 12171186 MMP19 matrix metallopeptidase 19 gene DOID:630 genetic disease ISO RGD:1322803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171186 MMP19 matrix metallopeptidase 19 gene DOID:9003281 Spontaneous Abortions ISO RGD:1322803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12171186 MMP19 matrix metallopeptidase 19 gene DOID:9009011 Cavitary Optic Disc Anomalies ISO RGD:1322803 D RGD:7240710 20180130 OMIM 12171186 MMP19 matrix metallopeptidase 19 gene DOID:9009011 Cavitary Optic Disc Anomalies ISO RGD:1322803 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cavitary optic disc anomalies PMID:10764862|PMID:25581579|PMID:25741868|PMID:28492532 12171186 MMP19 matrix metallopeptidase 19 gene DOID:9970 obesity ISO RGD:1322804 D RGD:9068941 20200609 RGD PMID:15169894|REF_RGD_ID:1642022 12171186 MMP19 matrix metallopeptidase 19 gene DOID:9970 obesity ISO RGD:1322804 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue PMID:12529376|REF_RGD_ID:1642023 12171199 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:0050425 restless legs syndrome ISO RGD:736298 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:21570342|REF_RGD_ID:6483334 12171199 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:0112153 hypomyelinating leukodystrophy 20 ISO RGD:736298 D RGD:7240710 20201111 OMIM 12171199 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:0112153 hypomyelinating leukodystrophy 20 ISO RGD:736298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 20 PMID:25741868|PMID:32128616 12171199 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:10554 meningoencephalitis ISO RGD:736299 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain, cerebrospinal fluid PMID:19592007|REF_RGD_ID:6483338 12171199 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:10652 Alzheimer's disease ISO RGD:736299 D RGD:9068941 20200609 RGD PMID:21918687|REF_RGD_ID:6483333 12171199 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:13001 carotid stenosis ISO RGD:2368 D RGD:9068941 20200609 RGD PMID:17936728|REF_RGD_ID:6483357 12171199 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:14018 alcoholic liver cirrhosis ISO RGD:736298 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:16205370|REF_RGD_ID:6483345 12171199 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:2377 multiple sclerosis ISO RGD:736298 D RGD:9068941 20200609 RGD PMID:18676363|PMID:19473295|REF_RGD_ID:6483339|REF_RGD_ID:6483346 12171199 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:5419 schizophrenia ISO RGD:736298 D RGD:9068941 20200609 RGD DNA:SNP:exon:c.326A>G (rs2070106) (human) PMID:16389193|REF_RGD_ID:6483344 12171199 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:5419 schizophrenia no_association ISO RGD:736298 D RGD:9068941 20200609 RGD DNA:SNP:exon:c.326A>G (rs2070106) (human) PMID:17306456|REF_RGD_ID:6483340 12171199 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:5419 schizophrenia susceptibility ISO RGD:736298 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron: (rs1054092) PMID:16891421|REF_RGD_ID:6483343 12171199 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:630 genetic disease ISO RGD:736298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12171199 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:640 encephalomyelitis ISO RGD:736299 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:18466224|REF_RGD_ID:6483347 12171199 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9000998 Brain Injuries ISO RGD:2368 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:20215974|REF_RGD_ID:6483336 12171199 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12171199 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2368 D RGD:9068941 20200609 RGD PMID:10650887|PMID:21107918|PMID:7541143|REF_RGD_ID:6483335|REF_RGD_ID:6483351|REF_RGD_ID:6483353 12171199 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2368 D RGD:9068941 20200609 RGD PMID:19747899|REF_RGD_ID:6483337 12171199 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9004807 Catatonic Schizophrenia ISO RGD:736298 D RGD:9068941 20200609 RGD DNA:SNP:exon:c.326A>G (rs2070106) (human) PMID:22473874|REF_RGD_ID:6483331 12171199 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9006289 Myopia 2 ISO RGD:736298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia 2, autosomal dominant 12171199 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:736298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12171199 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9008639 Catatonia ISO RGD:736299 D RGD:9068941 20200609 RGD PMID:22473874|REF_RGD_ID:6483331 12171213 SHISA8 shisa family member 8 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1345156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12171213 SHISA8 shisa family member 8 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1345156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 12171213 SHISA8 shisa family member 8 gene DOID:630 genetic disease ISO RGD:1345156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171220 ALDH16A1 aldehyde dehydrogenase 16 family member A1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1350465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12171220 ALDH16A1 aldehyde dehydrogenase 16 family member A1 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:1350465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23348497 12171220 ALDH16A1 aldehyde dehydrogenase 16 family member A1 gene DOID:13189 gout ISO RGD:1350465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983786 12171220 ALDH16A1 aldehyde dehydrogenase 16 family member A1 gene DOID:1920 hyperuricemia ISO RGD:1350465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23348497 12171220 ALDH16A1 aldehyde dehydrogenase 16 family member A1 gene DOID:630 genetic disease ISO RGD:1350465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171241 C32H4orf3 chromosome 32 C4orf3 homolog gene DOID:630 genetic disease ISO RGD:1604907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171241 C32H4orf3 chromosome 32 C4orf3 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12171247 NOA1 nitric oxide associated 1 gene DOID:630 genetic disease ISO RGD:1354431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171258 LOC100683141 olfactory receptor 6C76-like gene DOID:630 genetic disease ISO RGD:1350278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171266 CSMD1 CUB and Sushi multiple domains 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1312937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:28492532|PMID:35351988 12171266 CSMD1 CUB and Sushi multiple domains 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1312937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545|PMID:30504930 12171266 CSMD1 CUB and Sushi multiple domains 1 gene DOID:12849 autistic disorder ISO RGD:1312937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12171266 CSMD1 CUB and Sushi multiple domains 1 gene DOID:303 substance-related disorder ISO RGD:1312937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12171266 CSMD1 CUB and Sushi multiple domains 1 gene DOID:5419 schizophrenia ISO RGD:1312937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12171266 CSMD1 CUB and Sushi multiple domains 1 gene DOID:630 genetic disease ISO RGD:1312937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171266 CSMD1 CUB and Sushi multiple domains 1 gene DOID:670 amphetamine abuse ISO RGD:1312937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12171266 CSMD1 CUB and Sushi multiple domains 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1312937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12171266 CSMD1 CUB and Sushi multiple domains 1 gene DOID:8893 psoriasis ISO RGD:1312937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953187 12171342 TMEM60 transmembrane protein 60 gene DOID:0080600 COVID-19 ISO RGD:1318999 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12171342 TMEM60 transmembrane protein 60 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12171342 TMEM60 transmembrane protein 60 gene DOID:630 genetic disease ISO RGD:1318999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171342 TMEM60 transmembrane protein 60 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1318999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12171352 ZDHHC22 zinc finger DHHC-type palmitoyltransferase 22 gene DOID:1059 intellectual disability ISO RGD:1318218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12171352 ZDHHC22 zinc finger DHHC-type palmitoyltransferase 22 gene DOID:630 genetic disease ISO RGD:1318218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171420 GPATCH11 G-patch domain containing 11 gene DOID:630 genetic disease ISO RGD:1606673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171436 SPMIP5 sperm associated microtubule inner protein 5 gene DOID:303 substance-related disorder ISO RGD:1352905 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12171436 SPMIP5 sperm associated microtubule inner protein 5 gene DOID:630 genetic disease ISO RGD:1352905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171450 CBX7 chromobox 7 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1353483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12171450 CBX7 chromobox 7 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA:decreased expression::colorectum: PMID:22041561|REF_RGD_ID:9587355 12171450 CBX7 chromobox 7 gene DOID:0080522 thyroid gland anaplastic carcinoma ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA,protein,DNA:decreased expression, loss of heterozygosity:thyroid gland: PMID:18701502|REF_RGD_ID:9587357 12171450 CBX7 chromobox 7 gene DOID:0080522 thyroid gland anaplastic carcinoma ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:thyroid gland: PMID:19706751|REF_RGD_ID:9586729 12171450 CBX7 chromobox 7 gene DOID:0080522 thyroid gland anaplastic carcinoma ISO RGD:1550491 D RGD:9068941 20200609 RGD mRNA:decreased expression:thyroid gland: PMID:18701502|REF_RGD_ID:9587357 12171450 CBX7 chromobox 7 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1550491 D RGD:9068941 20200609 RGD PMID:17374722|REF_RGD_ID:11352707 12171450 CBX7 chromobox 7 gene DOID:10283 prostate cancer ISO RGD:1353483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12171450 CBX7 chromobox 7 gene DOID:10534 stomach cancer disease_progression ISO RGD:1353483 D RGD:9068941 20200609 RGD protein:increased expression:stomach: PMID:20723236|REF_RGD_ID:9587358 12171450 CBX7 chromobox 7 gene DOID:11054 urinary bladder cancer severity ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder (human) PMID:18984978|REF_RGD_ID:9587361 12171450 CBX7 chromobox 7 gene DOID:1612 breast cancer severity ISO RGD:1353483 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:25351982|REF_RGD_ID:11352704 12171450 CBX7 chromobox 7 gene DOID:2671 transitional cell carcinoma severity ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder: PMID:18984978|REF_RGD_ID:9587361 12171450 CBX7 chromobox 7 gene DOID:3068 glioblastoma disease_progression ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:astrocyte: PMID:24260522|REF_RGD_ID:9587354 12171450 CBX7 chromobox 7 gene DOID:3459 breast carcinoma severity ISO RGD:1353483 D RGD:9068941 20200609 RGD protein:decreased expression:breast (human) PMID:21779448|REF_RGD_ID:11352698 12171450 CBX7 chromobox 7 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1353483 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:20185297|REF_RGD_ID:9587360 12171450 CBX7 chromobox 7 gene DOID:3910 lung adenocarcinoma ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA,DNA:decreased expression, loss of heterozygosity:lung: PMID:22214847|REF_RGD_ID:9587356 12171450 CBX7 chromobox 7 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA,protein,DNA:decreased expression, loss of heterozygosity:thyroid gland: PMID:18701502|REF_RGD_ID:9587357 12171450 CBX7 chromobox 7 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1550491 D RGD:9068941 20200609 RGD mRNA:decreased expression:thyroid gland (mouse) PMID:18701502|REF_RGD_ID:9587357 12171450 CBX7 chromobox 7 gene DOID:4468 clear cell adenocarcinoma disease_progression ISO RGD:1353483 D RGD:9068941 20200609 RGD PMID:24375438|REF_RGD_ID:9587359 12171450 CBX7 chromobox 7 gene DOID:5517 stomach carcinoma ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA:decreased expression:stomach: PMID:22041561|REF_RGD_ID:9587355 12171450 CBX7 chromobox 7 gene DOID:630 genetic disease ISO RGD:1353483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171450 CBX7 chromobox 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:22041561|REF_RGD_ID:9587355 12171450 CBX7 chromobox 7 gene DOID:707 B-cell lymphoma ISO RGD:1550491 D RGD:9068941 20200609 RGD PMID:17374722|REF_RGD_ID:11352707 12171450 CBX7 chromobox 7 gene DOID:8161 thyroid gland Hurthle cell carcinoma ISO RGD:1353483 D RGD:9068941 20200609 RGD protein:decreased expression:thyroid Human) PMID:25759796|REF_RGD_ID:11352710 12171450 CBX7 chromobox 7 gene DOID:8692 myeloid leukemia treatment ISO RGD:1353483 D RGD:9068941 20200609 RGD PMID:26343356|REF_RGD_ID:11352715 12171450 CBX7 chromobox 7 gene DOID:9004078 Pancreatic Intraepithelial Neoplasia disease_progression ISO RGD:1353483 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:20185297|REF_RGD_ID:9587360 12171450 CBX7 chromobox 7 gene DOID:9004441 Experimental Leukemia ISO RGD:1550491 D RGD:9068941 20200609 RGD PMID:25434821|REF_RGD_ID:11352713 12171450 CBX7 chromobox 7 gene DOID:9005172 Lung Neoplasms ISO RGD:1353483 D RGD:9068941 20200609 RGD protein:decreased expression:lung (human) PMID:22214847|REF_RGD_ID:9587356 12171450 CBX7 chromobox 7 gene DOID:9005172 Lung Neoplasms ISO RGD:1550491 D RGD:9068941 20200609 RGD PMID:22214847|REF_RGD_ID:9587356 12171450 CBX7 chromobox 7 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:1353483 D RGD:9068941 20200609 RGD protein:decreased expression:thyroid gland: PMID:18701502|REF_RGD_ID:9587357 12171450 CBX7 chromobox 7 gene DOID:916 liver benign neoplasm ISO RGD:1550491 D RGD:9068941 20200609 RGD PMID:22214847|REF_RGD_ID:9587356 12171450 CBX7 chromobox 7 gene DOID:9538 multiple myeloma ISO RGD:1353483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23955597 12171450 CBX7 chromobox 7 gene DOID:9538 multiple myeloma susceptibility ISO RGD:1353483 D RGD:9068941 20200609 RGD DNA:snp:intron:c.113+3502C>T (human) (rs877529) PMID:23955597|REF_RGD_ID:11352716 12171461 IL17A interleukin 17A gene DOID:0050073 invasive aspergillosis severity ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:21807912|REF_RGD_ID:8698654 12171461 IL17A interleukin 17A gene DOID:0050169 cutaneous lupus erythematosus ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:epidermis (human) PMID:20493423|REF_RGD_ID:8698667 12171461 IL17A interleukin 17A gene DOID:0060180 colitis ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:14962796|REF_RGD_ID:4888509 12171461 IL17A interleukin 17A gene DOID:0060180 colitis ISO RGD:2888 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:20881082|REF_RGD_ID:4781448 12171461 IL17A interleukin 17A gene DOID:0060180 colitis ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24548422 12171461 IL17A interleukin 17A gene DOID:0060189 ileitis ISO RGD:2888 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum PMID:18536735|REF_RGD_ID:4837793 12171461 IL17A interleukin 17A gene DOID:0060318 acute promyelocytic leukemia ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22617429 12171461 IL17A interleukin 17A gene DOID:0060704 lymphoproliferative syndrome ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22617429 12171461 IL17A interleukin 17A gene DOID:0080162 lupus nephritis treatment ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:25129462|REF_RGD_ID:9244623 12171461 IL17A interleukin 17A gene DOID:0080600 COVID-19 severity ISO RGD:735883 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 12171461 IL17A interleukin 17A gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, serum (rat) PMID:22990529|REF_RGD_ID:9068935 12171461 IL17A interleukin 17A gene DOID:0081267 graft-versus-host disease ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22077062 12171461 IL17A interleukin 17A gene DOID:1024 leprosy severity ISO RGD:735883 D RGD:9068941 20200609 RGD mRNA:decreased expression:epidermis (human) PMID:22641009|REF_RGD_ID:8698644 12171461 IL17A interleukin 17A gene DOID:10247 pleurisy treatment ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:21898269|REF_RGD_ID:7175307 12171461 IL17A interleukin 17A gene DOID:10325 silicosis ISO RGD:10787 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:20421647|REF_RGD_ID:4888525 12171461 IL17A interleukin 17A gene DOID:10754 otitis media severity ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:24664502|REF_RGD_ID:8698659 12171461 IL17A interleukin 17A gene DOID:10966 lipoid nephrosis ISO RGD:2888 D RGD:9068941 20200609 RGD Protein:increased expression:plasma (rat) PMID:22772331|REF_RGD_ID:9068937 12171461 IL17A interleukin 17A gene DOID:11263 chlamydia ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:19812198|REF_RGD_ID:4889101 12171461 IL17A interleukin 17A gene DOID:11263 chlamydia ISO RGD:10787 D RGD:9068941 20200609 RGD associated with Bronchial Hyprractivity; mRNA:increased expression:lung PMID:20228193|REF_RGD_ID:4888528 12171461 IL17A interleukin 17A gene DOID:11265 trachoma ISO RGD:735883 D RGD:9068941 20200609 RGD mRNA:increased expression:conjunctiva (human) PMID:21911461|REF_RGD_ID:9068420 12171461 IL17A interleukin 17A gene DOID:11382 corneal neovascularization treatment ISO RGD:10787 D RGD:9068941 20200609 RGD associated with Herpes Simplex PMID:22379030|REF_RGD_ID:9068451 12171461 IL17A interleukin 17A gene DOID:11396 pulmonary edema ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28600744 12171461 IL17A interleukin 17A gene DOID:1205 allergic disease ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12171461 IL17A interleukin 17A gene DOID:12306 vitiligo ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22342018|REF_RGD_ID:8663475 12171461 IL17A interleukin 17A gene DOID:12361 Graves' disease ISO RGD:735883 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 12171461 IL17A interleukin 17A gene DOID:12361 Graves' disease susceptibility ISO RGD:735883 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS1+18G>A (rs3819025) (human) PMID:22816799|REF_RGD_ID:9068423 12171461 IL17A interleukin 17A gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19738511|REF_RGD_ID:4889103 12171461 IL17A interleukin 17A gene DOID:1287 cardiovascular system disease ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29114965 12171461 IL17A interleukin 17A gene DOID:12894 Sjogren's syndrome ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:21182786|REF_RGD_ID:8696035 12171461 IL17A interleukin 17A gene DOID:13141 uveitis ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:19373578|REF_RGD_ID:4888523 12171461 IL17A interleukin 17A gene DOID:13141 uveitis ISO RGD:735883 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;protein:increased expression:serum (human) PMID:23101722|REF_RGD_ID:9068441 12171461 IL17A interleukin 17A gene DOID:13241 Behcet's disease ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:21455110|REF_RGD_ID:8698672 12171461 IL17A interleukin 17A gene DOID:13375 temporal arteritis severity ISO RGD:735883 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:temporal artery (human) PMID:22993227|REF_RGD_ID:8698666 12171461 IL17A interleukin 17A gene DOID:13375 temporal arteritis susceptibility ISO RGD:735883 D RGD:9068941 20200609 RGD DNA:snps:promoter, 3' utr: c.-197A>G (rs2275913), c.*159A>G (rs7747909) (human) PMID:24919468|REF_RGD_ID:9068454 12171461 IL17A interleukin 17A gene DOID:1485 cystic fibrosis ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21109552|REF_RGD_ID:4889130 12171461 IL17A interleukin 17A gene DOID:1485 cystic fibrosis ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19342416|REF_RGD_ID:4889105 12171461 IL17A interleukin 17A gene DOID:1731 histoplasmosis ISO RGD:10787 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (mouse) PMID:19469707|REF_RGD_ID:9068939 12171461 IL17A interleukin 17A gene DOID:1936 atherosclerosis treatment ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:21300351|REF_RGD_ID:9170237 12171461 IL17A interleukin 17A gene DOID:2123 tularemia ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:20585449|REF_RGD_ID:4888521 12171461 IL17A interleukin 17A gene DOID:2316 brain ischemia ISO RGD:2888 D RGD:9068941 20200609 RGD protein, mRNA:increased expression:brain PMID:16305645|REF_RGD_ID:4846398 12171461 IL17A interleukin 17A gene DOID:2316 brain ischemia ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 12171461 IL17A interleukin 17A gene DOID:2316 brain ischemia ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:16305645|REF_RGD_ID:4846398 12171461 IL17A interleukin 17A gene DOID:2377 multiple sclerosis ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23517930 12171461 IL17A interleukin 17A gene DOID:2377 multiple sclerosis ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:21455110|REF_RGD_ID:8698672 12171461 IL17A interleukin 17A gene DOID:2755 Mycobacterium avium complex disease ISO RGD:735883 D RGD:9068941 20200609 RGD PMID:20797909|REF_RGD_ID:4888520 12171461 IL17A interleukin 17A gene DOID:2799 bronchiolitis obliterans ISO RGD:10787 D RGD:9068941 20200609 RGD mRNA:increased expression:trachea PMID:20393404|REF_RGD_ID:4143277 12171461 IL17A interleukin 17A gene DOID:2841 asthma ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:20351038|REF_RGD_ID:4888527 12171461 IL17A interleukin 17A gene DOID:2841 asthma ISO RGD:2888 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:Leukocytes, Mononuclear, lung, serum PMID:18060619|REF_RGD_ID:4839043 12171461 IL17A interleukin 17A gene DOID:2841 asthma ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage PMID:18941201|REF_RGD_ID:4889152 12171461 IL17A interleukin 17A gene DOID:2841 asthma ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:15730730|REF_RGD_ID:4889114 12171461 IL17A interleukin 17A gene DOID:2841 asthma susceptibility ISO RGD:735883 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs2275913 (human) PMID:20437253|REF_RGD_ID:4889139 12171461 IL17A interleukin 17A gene DOID:2942 bronchiolitis susceptibility ISO RGD:735883 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs2275913 (human) PMID:20437253|REF_RGD_ID:4889139 12171461 IL17A interleukin 17A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:lung, bronchioalveolar lavage fluid (rat) PMID:16200865|REF_RGD_ID:9068943 12171461 IL17A interleukin 17A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:respiratory mucosa PMID:19604272|REF_RGD_ID:4889104 12171461 IL17A interleukin 17A gene DOID:331 central nervous system disease ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19940258 12171461 IL17A interleukin 17A gene DOID:3310 atopic dermatitis ISO RGD:10787 D RGD:9068941 20200609 RGD protein:increased expression:epidermis (mouse) PMID:22848348|REF_RGD_ID:9068417 12171461 IL17A interleukin 17A gene DOID:3310 atopic dermatitis severity ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:dermis, lymphocyte (human) PMID:18432274|REF_RGD_ID:9068436 12171461 IL17A interleukin 17A gene DOID:3310 atopic dermatitis treatment ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:24337738|REF_RGD_ID:8698670 12171461 IL17A interleukin 17A gene DOID:3388 periodontal disease ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:gingiva (rat) PMID:21826658|REF_RGD_ID:9068940 12171461 IL17A interleukin 17A gene DOID:3482 plague ISO RGD:2888 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lymph node PMID:20876291|REF_RGD_ID:4781452 12171461 IL17A interleukin 17A gene DOID:3770 pulmonary fibrosis ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:18338242|PMID:20176803|REF_RGD_ID:4888529|REF_RGD_ID:4889110 12171461 IL17A interleukin 17A gene DOID:3770 pulmonary fibrosis ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:lung, bronchioalveolar lavage fluid (rat) PMID:24721403|REF_RGD_ID:9179762 12171461 IL17A interleukin 17A gene DOID:3770 pulmonary fibrosis ISO RGD:735883 D RGD:9068941 20200609 RGD Idiopathic Pulmonary Fibrosis PMID:20176803|REF_RGD_ID:4888529 12171461 IL17A interleukin 17A gene DOID:417 autoimmune disease ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 12171461 IL17A interleukin 17A gene DOID:418 systemic scleroderma ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:22833167|REF_RGD_ID:8696037 12171461 IL17A interleukin 17A gene DOID:418 systemic scleroderma ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:epidermis, endodermis, mast cell (human) PMID:23335253|REF_RGD_ID:8696038 12171461 IL17A interleukin 17A gene DOID:4448 macular degeneration ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression: serum (human) PMID:21762495|REF_RGD_ID:9068453 12171461 IL17A interleukin 17A gene DOID:4448 macular degeneration susceptibility ISO RGD:735883 D RGD:9068941 20200609 RGD DNA:snps:promoter, 3' utr:c.-197G>A, c.*1249C>T (rs2275913, rs3748067) (human) PMID:25028103|REF_RGD_ID:9068445 12171461 IL17A interleukin 17A gene DOID:4481 allergic rhinitis ISO RGD:735883 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:21535180|REF_RGD_ID:5147409 12171461 IL17A interleukin 17A gene DOID:4481 allergic rhinitis susceptibility ISO RGD:735883 D RGD:9068941 20200609 RGD DNA:snp:promoter:c.-444A>G (human) PMID:22507625|REF_RGD_ID:9068429 12171461 IL17A interleukin 17A gene DOID:4483 rhinitis ISO RGD:735883 D RGD:9068941 20200609 RGD PMID:19927541|REF_RGD_ID:4889144 12171461 IL17A interleukin 17A gene DOID:4483 rhinitis ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa PMID:20506642|REF_RGD_ID:4889137 12171461 IL17A interleukin 17A gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:23826305|REF_RGD_ID:7365004 12171461 IL17A interleukin 17A gene DOID:552 pneumonia ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:20498020|PMID:22848348|REF_RGD_ID:4888524|REF_RGD_ID:9068417 12171461 IL17A interleukin 17A gene DOID:552 pneumonia ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12171461 IL17A interleukin 17A gene DOID:5844 myocardial infarction ISO RGD:2888 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart left ventricle (rat) PMID:23096364|REF_RGD_ID:9095344 12171461 IL17A interleukin 17A gene DOID:6000 congestive heart failure ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:19527710|REF_RGD_ID:4831836 12171461 IL17A interleukin 17A gene DOID:6000 congestive heart failure ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:19909738|REF_RGD_ID:2325816 12171461 IL17A interleukin 17A gene DOID:630 genetic disease ISO RGD:735883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171461 IL17A interleukin 17A gene DOID:6543 acne ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:pilosebaceous unit, dermis (human) PMID:23924903|REF_RGD_ID:8698671 12171461 IL17A interleukin 17A gene DOID:6713 cerebrovascular disease ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29114965 12171461 IL17A interleukin 17A gene DOID:7147 ankylosing spondylitis treatment ISO RGD:735883 D RGD:9068941 20200609 RGD PMID:24035250|REF_RGD_ID:9068448 12171461 IL17A interleukin 17A gene DOID:7148 rheumatoid arthritis ISO RGD:735883 D RGD:9068941 20221117 RGD mRNA:increased expression:synovial (human) PMID:22660635|REF_RGD_ID:155663483 12171461 IL17A interleukin 17A gene DOID:7148 rheumatoid arthritis treatment ISO RGD:735883 D RGD:9068941 20200609 RGD PMID:20926833|REF_RGD_ID:9068415 12171461 IL17A interleukin 17A gene DOID:7188 autoimmune thyroiditis ISO RGD:10787 D RGD:9068941 20200609 RGD protein:increased expression:thyroid gland PMID:17046971|REF_RGD_ID:4841878 12171461 IL17A interleukin 17A gene DOID:820 myocarditis ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:18441464|REF_RGD_ID:4838736 12171461 IL17A interleukin 17A gene DOID:823 periapical periodontitis ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:Periapical Tissue PMID:19166776|REF_RGD_ID:4832829 12171461 IL17A interleukin 17A gene DOID:841 extrinsic allergic alveolitis ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:19151189|REF_RGD_ID:4889106 12171461 IL17A interleukin 17A gene DOID:841 extrinsic allergic alveolitis ISO RGD:10787 D RGD:9068941 20200609 RGD associated with Silicosis PMID:20421647|REF_RGD_ID:4888525 12171461 IL17A interleukin 17A gene DOID:874 bacterial pneumonia ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:18802100|REF_RGD_ID:4889153 12171461 IL17A interleukin 17A gene DOID:874 bacterial pneumonia severity ISO RGD:10787 D RGD:9068941 20200820 RGD PMID:25398094|REF_RGD_ID:38501102 12171461 IL17A interleukin 17A gene DOID:8893 psoriasis ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:21172868|REF_RGD_ID:9068413 12171461 IL17A interleukin 17A gene DOID:8893 psoriasis ISO RGD:10787 D RGD:9068941 20200609 RGD mRNA:protein:increased expression:epidermis (human) PMID:23359500|REF_RGD_ID:8698663 12171461 IL17A interleukin 17A gene DOID:8893 psoriasis ISO RGD:735883 D RGD:9068941 20200609 RGD mRNA:protein:increased expression:epidermis (human) PMID:23359500|REF_RGD_ID:8698663 12171461 IL17A interleukin 17A gene DOID:8893 psoriasis treatment ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:24286371|REF_RGD_ID:8698656 12171461 IL17A interleukin 17A gene DOID:8893 psoriasis treatment ISO RGD:735883 D RGD:9068941 20200609 RGD PMID:20926833|REF_RGD_ID:9068415 12171461 IL17A interleukin 17A gene DOID:9000380 Spondylarthritis ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:21905004|REF_RGD_ID:9068946 12171461 IL17A interleukin 17A gene DOID:9000469 Viral Myocarditis treatment ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:23702425|REF_RGD_ID:9227415 12171461 IL17A interleukin 17A gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:20413629|REF_RGD_ID:4888526 12171461 IL17A interleukin 17A gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:12814161|REF_RGD_ID:4889115 12171461 IL17A interleukin 17A gene DOID:9000955 Acute Otitis Media disease_progression ISO RGD:2888 D RGD:9068941 20201118 RGD protein:increased expression:serum (rat) PMID:27497403|REF_RGD_ID:40818299 12171461 IL17A interleukin 17A gene DOID:9000989 Pneumococcal Infections susceptibility ISO RGD:735883 D RGD:9068941 20200609 RGD associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human) PMID:20437253|REF_RGD_ID:4889139 12171461 IL17A interleukin 17A gene DOID:9001472 Nasal Polyps ISO RGD:735883 D RGD:9068941 20200609 RGD associated with rhinitis; protein:increased expression:nasal mucosa PMID:21091665|REF_RGD_ID:4889132 12171461 IL17A interleukin 17A gene DOID:9001472 Nasal Polyps ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:nose, serum PMID:20506642|REF_RGD_ID:4889137 12171461 IL17A interleukin 17A gene DOID:9001488 Human Influenza ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:19265125|REF_RGD_ID:4889150 12171461 IL17A interleukin 17A gene DOID:9001488 Human Influenza ISO RGD:10787 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:19783685|REF_RGD_ID:4889102 12171461 IL17A interleukin 17A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:10787 D RGD:9068941 20201023 RGD protein:increased expression:liver, serum (mouse) PMID:28465467|REF_RGD_ID:39939037 12171461 IL17A interleukin 17A gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2888 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 12171461 IL17A interleukin 17A gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:19995896|REF_RGD_ID:4888531 12171461 IL17A interleukin 17A gene DOID:9002211 Hyperalgesia ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:23192794|REF_RGD_ID:9068942 12171461 IL17A interleukin 17A gene DOID:9002211 Hyperalgesia treatment ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:23246025|REF_RGD_ID:9222699 12171461 IL17A interleukin 17A gene DOID:9002457 Experimental Arthritis ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:20925596|REF_RGD_ID:4781444 12171461 IL17A interleukin 17A gene DOID:9002457 Experimental Arthritis ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:20925596|REF_RGD_ID:4781444 12171461 IL17A interleukin 17A gene DOID:9002457 Experimental Arthritis ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:23377547|REF_RGD_ID:9130803 12171461 IL17A interleukin 17A gene DOID:9002457 Experimental Arthritis ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20974942 12171461 IL17A interleukin 17A gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:21194185|REF_RGD_ID:9068936 12171461 IL17A interleukin 17A gene DOID:9002605 Delayed Hypersensitivity ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:19373578|REF_RGD_ID:4888523 12171461 IL17A interleukin 17A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:16785554|REF_RGD_ID:4889113 12171461 IL17A interleukin 17A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:20003332|REF_RGD_ID:4888522 12171461 IL17A interleukin 17A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2888 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lymph node PMID:19233473|REF_RGD_ID:4831840 12171461 IL17A interleukin 17A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:16200068|REF_RGD_ID:9212317 12171461 IL17A interleukin 17A gene DOID:9003157 Respiratory Sounds ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:20199725|REF_RGD_ID:4889143 12171461 IL17A interleukin 17A gene DOID:9003646 Arterial Thrombosis ISO RGD:10787 D RGD:9068941 20200609 RGD mouse protein in a rat model PMID:24940514|REF_RGD_ID:9068933 12171461 IL17A interleukin 17A gene DOID:9003657 Perennial Allergic Rhinitis severity ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19226302|REF_RGD_ID:4889151 12171461 IL17A interleukin 17A gene DOID:9004283 Transplant Rejection ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:20651239|REF_RGD_ID:9068426 12171461 IL17A interleukin 17A gene DOID:9004283 Transplant Rejection ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:liver, serum (rat) PMID:21043049|REF_RGD_ID:4781440 12171461 IL17A interleukin 17A gene DOID:9004283 Transplant Rejection treatment ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:23429965|REF_RGD_ID:9068938 12171461 IL17A interleukin 17A gene DOID:9004484 Sepsis ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:15776385|REF_RGD_ID:4888507 12171461 IL17A interleukin 17A gene DOID:9004610 Acute Lung Injury ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28600744 12171461 IL17A interleukin 17A gene DOID:9004945 Ocular Toxoplasmosis ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor (human) PMID:22927448|REF_RGD_ID:8698652 12171461 IL17A interleukin 17A gene DOID:9004945 Ocular Toxoplasmosis treatment ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:22927448|REF_RGD_ID:8698652 12171461 IL17A interleukin 17A gene DOID:9005036 Bacteremia ISO RGD:735883 D RGD:9068941 20200609 RGD associated with Respiratory Distress Syndrome, Adult; protein:increased expression:serum PMID:21062445|REF_RGD_ID:5128683 12171461 IL17A interleukin 17A gene DOID:9005106 Animal Toxoplasmosis ISO RGD:10787 D RGD:9068941 20200820 RGD mRNA,protein:increased expression:placenta: PMID:21923716|REF_RGD_ID:38501105 12171461 IL17A interleukin 17A gene DOID:9005236 Drug Eruptions ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31150805 12171461 IL17A interleukin 17A gene DOID:9005372 Inflammation ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22617429 12171461 IL17A interleukin 17A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:gingiva (rat) PMID:21826658|REF_RGD_ID:9068940 12171461 IL17A interleukin 17A gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:24117055|REF_RGD_ID:9074484 12171461 IL17A interleukin 17A gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:2888 D RGD:9068941 20200609 RGD mRNA:increased expression:lymph node (rat) PMID:21686325|REF_RGD_ID:9158567 12171461 IL17A interleukin 17A gene DOID:9005647 Experimental Autoimmune Uveitis treatment ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:23626769|REF_RGD_ID:9173789 12171461 IL17A interleukin 17A gene DOID:9005749 Necrosis ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24949944 12171461 IL17A interleukin 17A gene DOID:9005941 Rhinosinusitis ISO RGD:735883 D RGD:9068941 20200609 RGD associated with Asthma;mRNA, protein:increased expression:nasal polyps (human) PMID:19672092|REF_RGD_ID:4889146 12171461 IL17A interleukin 17A gene DOID:9005966 Staphylococcal Skin Infections ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:24614654|REF_RGD_ID:9068425 12171461 IL17A interleukin 17A gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:10785455|REF_RGD_ID:4888513 12171461 IL17A interleukin 17A gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:2888 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:sciatic nerve, inguinal lymph node PMID:19207263|REF_RGD_ID:4831923 12171461 IL17A interleukin 17A gene DOID:9006771 Chronic Rhinosinusitis ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:uncinate process, nasal mucosa (human) PMID:23613503|REF_RGD_ID:8696039 12171461 IL17A interleukin 17A gene DOID:9006779 Discoid Lupus Erythematosus ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:epidermis (human) PMID:20493423|REF_RGD_ID:8698667 12171461 IL17A interleukin 17A gene DOID:9006844 Streptococcal Infections ISO RGD:10787 D RGD:9068941 20200609 RGD protein:increased expression:serum (mouse) PMID:22384827|REF_RGD_ID:8698662 12171461 IL17A interleukin 17A gene DOID:9006854 MPTP Poisoning ISO RGD:735883 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31351185 12171461 IL17A interleukin 17A gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:735883 D RGD:9068941 20200609 RGD DNA:SNP: :rs7747909(human) PMID:17703412|REF_RGD_ID:4889847 12171461 IL17A interleukin 17A gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19633216|PMID:24949944 12171461 IL17A interleukin 17A gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:22030025|REF_RGD_ID:9068944 12171461 IL17A interleukin 17A gene DOID:9008 psoriatic arthritis severity ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:24567524|REF_RGD_ID:8698658 12171461 IL17A interleukin 17A gene DOID:9008 psoriatic arthritis treatment ISO RGD:735883 D RGD:9068941 20200609 RGD PMID:23361084|REF_RGD_ID:9068444 12171461 IL17A interleukin 17A gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes treatment ISO RGD:735883 D RGD:9068941 20200609 RGD PMID:21637346|REF_RGD_ID:9068438 12171461 IL17A interleukin 17A gene DOID:9008727 Ige Responsiveness, Atopic ISO RGD:735883 D RGD:9068941 20200609 RGD associated with Nasal Polyps;protein:increased expression:nasal polyps (human) PMID:24141678|REF_RGD_ID:9068428 12171461 IL17A interleukin 17A gene DOID:9008939 Breast Neoplasms treatment ISO RGD:10787 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental PMID:24674692|REF_RGD_ID:9068440 12171461 IL17A interleukin 17A gene DOID:9008945 Gram-Negative Bacterial Infections susceptibility ISO RGD:735883 D RGD:9068941 20200609 RGD Moraxellaceae Infections; associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human) PMID:20437253|REF_RGD_ID:4889139 12171461 IL17A interleukin 17A gene DOID:9074 systemic lupus erythematosus ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:epidermis (human) PMID:20493423|REF_RGD_ID:8698667 12171461 IL17A interleukin 17A gene DOID:9074 systemic lupus erythematosus ISO RGD:735883 D RGD:9068941 20221117 RGD mRNA:increased expression:kidney (human) PMID:22660635|REF_RGD_ID:155663483 12171461 IL17A interleukin 17A gene DOID:9111 cutaneous leishmaniasis ISO RGD:735883 D RGD:9068941 20200806 RGD mRNA:increased expression:Peripheral blood mononuclear cell: PMID:29205403|REF_RGD_ID:38455981 12171461 IL17A interleukin 17A gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:2888 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 12171468 CYP4A37 cytochrome P450 4A37 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:68945 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:19129252|REF_RGD_ID:2303380 12171468 CYP4A37 cytochrome P450 4A37 gene DOID:10763 hypertension ISO RGD:68945 D RGD:9068941 20200609 RGD PMID:18952718|REF_RGD_ID:2303381 12171468 CYP4A37 cytochrome P450 4A37 gene DOID:10763 hypertension ISO RGD:68945 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney cortex PMID:16339392|REF_RGD_ID:2303383 12171490 SHANK1 SH3 and multiple ankyrin repeat domains 1 gene DOID:1059 intellectual disability ISO RGD:734100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12171490 SHANK1 SH3 and multiple ankyrin repeat domains 1 gene DOID:12849 autistic disorder ISO RGD:734100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18272690 12171490 SHANK1 SH3 and multiple ankyrin repeat domains 1 gene DOID:2030 anxiety disorder ISO RGD:734100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18272690 12171490 SHANK1 SH3 and multiple ankyrin repeat domains 1 gene DOID:4450 renal cell carcinoma ISO RGD:734100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 12171490 SHANK1 SH3 and multiple ankyrin repeat domains 1 gene DOID:630 genetic disease ISO RGD:734100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171490 SHANK1 SH3 and multiple ankyrin repeat domains 1 gene DOID:9008086 Developmental Disabilities ISO RGD:734100 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12171490 SHANK1 SH3 and multiple ankyrin repeat domains 1 gene DOID:9923 developmental coordination disorder ISO RGD:734100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20868654 12171520 ZNF362 zinc finger protein 362 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1602182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12171520 ZNF362 zinc finger protein 362 gene DOID:630 genetic disease ISO RGD:1602182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171546 CARD11 caspase recruitment domain family member 11 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1319685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 12171546 CARD11 caspase recruitment domain family member 11 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1319685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25049379|PMID:26192916 12171546 CARD11 caspase recruitment domain family member 11 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1319685 D RGD:9068941 20200609 RGD DNA:missense mutations:exons:multiple (human) PMID:18323416|REF_RGD_ID:11100036 12171546 CARD11 caspase recruitment domain family member 11 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1319685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 12171546 CARD11 caspase recruitment domain family member 11 gene DOID:0111955 immunodeficiency 27A ISO RGD:1319685 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:25741868 12171546 CARD11 caspase recruitment domain family member 11 gene DOID:0111957 immunodeficiency 11A ISO RGD:1319685 D RGD:7240710 20180130 OMIM 12171546 CARD11 caspase recruitment domain family member 11 gene DOID:0111957 immunodeficiency 11A ISO RGD:1319685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency PMID:16199547|PMID:17576681|PMID:18323416|PMID:23027925|PMID:23129749|PMID:23149938|PMID:23374270|PMID:23561803|PMID:24033266|PMID:24728327|PMID:25352053|PMID:25741868|PMID:25930198|PMID:26289640|PMID:26861442|PMID:28492532|PMID:28824638|PMID:28826773|PMID:29472930|PMID:30170123|PMID:30894704|PMID:30940614|PMID:33202260|PMID:33859323|PMID:34573280|PMID:9536098 12171546 CARD11 caspase recruitment domain family member 11 gene DOID:0111958 immunodeficiency 11B ISO RGD:1319685 D RGD:7240710 20190315 OMIM 12171546 CARD11 caspase recruitment domain family member 11 gene DOID:0111958 immunodeficiency 11B ISO RGD:1319685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ATOPIC DERMATITIS, ELEVATED IgE, AND EOSINOPHILIA | ClinVar Annotator: match by term: Immunodeficiency 11b with atopic dermatitis PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28628108|PMID:28826773|PMID:33202260|PMID:9536098 12171546 CARD11 caspase recruitment domain family member 11 gene DOID:2841 asthma ISO RGD:1319685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Asthma PMID:18323416|PMID:23027925|PMID:23129749|PMID:25352053|PMID:25741868|PMID:26861442|PMID:28492532|PMID:28824638|PMID:29472930 12171546 CARD11 caspase recruitment domain family member 11 gene DOID:2841 asthma susceptibility ISO RGD:1319686 D RGD:9068941 20200609 RGD PMID:16751370|REF_RGD_ID:11100037 12171546 CARD11 caspase recruitment domain family member 11 gene DOID:3310 atopic dermatitis ISO RGD:1319685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23042114|PMID:28628108 12171546 CARD11 caspase recruitment domain family member 11 gene DOID:4450 renal cell carcinoma ISO RGD:1319685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 12171546 CARD11 caspase recruitment domain family member 11 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1319685 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:25384343|REF_RGD_ID:11100039 12171546 CARD11 caspase recruitment domain family member 11 gene DOID:630 genetic disease ISO RGD:1319685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12171546 CARD11 caspase recruitment domain family member 11 gene DOID:8541 Sezary's disease ISO RGD:1319685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667|PMID:26551670 12171546 CARD11 caspase recruitment domain family member 11 gene DOID:9000756 Persistent Polyclonal B-Cell Lymphocytosis ISO RGD:1319685 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.E127G, p.G116S (human) PMID:23129749|REF_RGD_ID:11100033 12171546 CARD11 caspase recruitment domain family member 11 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1319685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteopenia PMID:18323416|PMID:23027925|PMID:23129749|PMID:25352053|PMID:25741868|PMID:26861442|PMID:28492532|PMID:28824638|PMID:29472930 12171546 CARD11 caspase recruitment domain family member 11 gene DOID:9002720 Splenomegaly ISO RGD:1319685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enlarged Spleen PMID:18323416|PMID:23027925|PMID:23129749|PMID:25352053|PMID:25741868|PMID:26861442|PMID:28492532|PMID:28824638|PMID:29472930 12171546 CARD11 caspase recruitment domain family member 11 gene DOID:9005199 B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY ISO RGD:1319685 D RGD:7240710 20180130 OMIM 12171546 CARD11 caspase recruitment domain family member 11 gene DOID:9005199 B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY ISO RGD:1319685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: B-cell expansion with NFKB and T-cell anergy PMID:17576681|PMID:18323416|PMID:23027925|PMID:23129749|PMID:23149938|PMID:24033266|PMID:25352053|PMID:25741868|PMID:25930198|PMID:26861442|PMID:28492532|PMID:28824638|PMID:29472930|PMID:30940614|PMID:9536098 12171577 BFAR bifunctional apoptosis regulator gene DOID:630 genetic disease ISO RGD:1312438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171591 CTBS chitobiase gene DOID:630 genetic disease ISO RGD:1351227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171602 COX17 cytochrome c oxidase copper chaperone COX17 gene DOID:630 genetic disease ISO RGD:733581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171602 COX17 cytochrome c oxidase copper chaperone COX17 gene DOID:9005172 Lung Neoplasms ISO RGD:733581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23624903 12171602 COX17 cytochrome c oxidase copper chaperone COX17 gene DOID:9008510 Chronic Hepatitis ISO RGD:733581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 12171609 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:0040084 Streptococcus pneumonia severity ISO RGD:733815 D RGD:9068941 20201117 RGD PMID:21887255|REF_RGD_ID:40818252 12171609 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:0050211 swine influenza ISO RGD:733815 D RGD:9068941 20201117 RGD PMID:20130050|REF_RGD_ID:40818269 12171609 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:0050211 swine influenza severity ISO RGD:733815 D RGD:9068941 20201117 RGD PMID:23602571|REF_RGD_ID:40818268 12171609 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:0060704 lymphoproliferative syndrome disease_progression ISO RGD:1348186 D RGD:9068941 20201105 RGD associated with Postoperative Complications and Epstein-Barr Virus Infections; protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:22105417|REF_RGD_ID:39128180 12171609 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:11168 anogenital venereal wart ISO RGD:1348186 D RGD:9068941 20201105 RGD mRNA,protein:decreased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 12171609 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:12155 lymphocytic choriomeningitis ISO RGD:733815 D RGD:9068941 20201118 RGD PMID:30995287|REF_RGD_ID:40818298 12171609 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:1508 candidiasis disease_progression ISO RGD:733815 D RGD:9068941 20201113 RGD PMID:27736647|REF_RGD_ID:40818241 12171609 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:1883 hepatitis C disease_progression ISO RGD:1348186 D RGD:9068941 20201112 RGD protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:17553896|REF_RGD_ID:40400745 12171609 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:630 genetic disease ISO RGD:1348186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171609 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1348186 D RGD:9068941 20201117 RGD protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) PMID:27382604|REF_RGD_ID:40818276 12171609 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9003284 HIV Seropositivity ISO RGD:1348186 D RGD:9068941 20201118 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:27091211|REF_RGD_ID:40818300 12171609 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9003284 HIV Seropositivity treatment ISO RGD:1348186 D RGD:9068941 20201117 RGD PMID:18724804|REF_RGD_ID:40818277 12171609 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9003652 Hydatidiform Mole, Recurrent, 1 ISO RGD:1348186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 PMID:11598368|PMID:14756744|PMID:16199547|PMID:16239310|PMID:16462743|PMID:18039680|PMID:19054016|PMID:19066229|PMID:19246479|PMID:19309689|PMID:19650864|PMID:21507883|PMID:21659348|PMID:21948117|PMID:22315435|PMID:22361007|PMID:22646272|PMID:23201303|PMID:23354651|PMID:24033266|PMID:24105752|PMID:25082979|PMID:25097207|PMID:25741868|PMID:26956250|PMID:28492532 12171609 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1348186 D RGD:9068941 20201112 RGD protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:20550548|REF_RGD_ID:40818079 12171609 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1348186 D RGD:9068941 20201118 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:23813131|REF_RGD_ID:40818297 12171609 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1348186 D RGD:9068941 20201106 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:21168454|REF_RGD_ID:40400738 12171609 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1348186 D RGD:9068941 20201112 RGD protein:decreased expression:liver, natural killer cell (human) PMID:25148254|REF_RGD_ID:40813739 12171609 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1348186 D RGD:9068941 20201118 RGD PMID:16322112|PMID:21695691|PMID:31218578|REF_RGD_ID:40400920|REF_RGD_ID:40818295|REF_RGD_ID:40818296 12171609 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9005147 Hydatidiform Mole ISO RGD:1348186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydatidiform mole PMID:24033266|PMID:25741868 12171609 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:733815 D RGD:9068941 20201113 RGD PMID:26371250|REF_RGD_ID:40818246 12171609 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9006262 Cytomegalovirus Infections disease_progression ISO RGD:733815 D RGD:9068941 20201113 RGD PMID:28643847|REF_RGD_ID:40818245 12171609 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9006262 Cytomegalovirus Infections susceptibility ISO RGD:733815 D RGD:9068941 20201117 RGD PMID:22267813|REF_RGD_ID:40818251 12171609 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9006262 Cytomegalovirus Infections susceptibility ISO RGD:733815 D RGD:9068941 20201117 RGD DNA:SNP:cds: p.C14R (mouse) PMID:29440507|REF_RGD_ID:40818249 12171609 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1348186 D RGD:9068941 20201105 RGD protein:decreased expression:Peripheral blood mononuclear cell, natural killer cell (human) PMID:29625837|REF_RGD_ID:39128177 12171609 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:1348186 D RGD:9068941 20201113 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:26291078|REF_RGD_ID:40818237 12171609 NCR1 natural cytotoxicity triggering receptor 1 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1348186 D RGD:9068941 20201105 RGD protein:increased expression:Peripheral blood mononuclear cell, natural killer cell (human) PMID:28328926|REF_RGD_ID:40400737 12171626 GTSF1L gametocyte specific factor 1 like gene DOID:2234 focal epilepsy ISO RGD:1314719 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12171626 GTSF1L gametocyte specific factor 1 like gene DOID:630 genetic disease ISO RGD:1314719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171626 GTSF1L gametocyte specific factor 1 like gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1314719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12171657 FUT8 fucosyltransferase 8 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1344316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 12171657 FUT8 fucosyltransferase 8 gene DOID:630 genetic disease ISO RGD:1344316 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29304374 12171657 FUT8 fucosyltransferase 8 gene DOID:9003434 Congenital Disorder of Glycosylation with Defective Fucosylation 1 ISO RGD:1344316 D RGD:7240710 20190315 OMIM 12171657 FUT8 fucosyltransferase 8 gene DOID:9003434 Congenital Disorder of Glycosylation with Defective Fucosylation 1 ISO RGD:1344316 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation 1 PMID:24033266|PMID:25741868|PMID:28492532|PMID:29304374 12171657 FUT8 fucosyltransferase 8 gene DOID:9675 pulmonary emphysema ISO RGD:1550689 D RGD:9068941 20220825 MouseDO OMIM:130700 12171700 ALDH1L2 aldehyde dehydrogenase 1 family member L2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1551620 D RGD:9068941 20220825 MouseDO OMIM:613282 | OMIM:613387 12171700 ALDH1L2 aldehyde dehydrogenase 1 family member L2 gene DOID:0080600 COVID-19 ISO RGD:1345617 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12171700 ALDH1L2 aldehyde dehydrogenase 1 family member L2 gene DOID:630 genetic disease ISO RGD:1345617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171700 ALDH1L2 aldehyde dehydrogenase 1 family member L2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12171700 ALDH1L2 aldehyde dehydrogenase 1 family member L2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12171727 SPATA18 spermatogenesis associated 18 gene DOID:10283 prostate cancer ISO RGD:1606969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12171727 SPATA18 spermatogenesis associated 18 gene DOID:630 genetic disease ISO RGD:1606969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171727 SPATA18 spermatogenesis associated 18 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12171727 SPATA18 spermatogenesis associated 18 gene DOID:9008939 Breast Neoplasms ISO RGD:1606969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12171747 BABAM2 BRISC and BRCA1 A complex member 2 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1343026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12171747 BABAM2 BRISC and BRCA1 A complex member 2 gene DOID:10283 prostate cancer ISO RGD:1343026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12171747 BABAM2 BRISC and BRCA1 A complex member 2 gene DOID:630 genetic disease ISO RGD:1343026 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171765 GOLPH3L golgi phosphoprotein 3 like gene DOID:0111940 immunodeficiency 42 ISO RGD:1347625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12171765 GOLPH3L golgi phosphoprotein 3 like gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1347625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12171765 GOLPH3L golgi phosphoprotein 3 like gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1347625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12171765 GOLPH3L golgi phosphoprotein 3 like gene DOID:1540 parathyroid carcinoma ISO RGD:1347625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12171765 GOLPH3L golgi phosphoprotein 3 like gene DOID:5812 MHC class II deficiency ISO RGD:1347625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12171765 GOLPH3L golgi phosphoprotein 3 like gene DOID:630 genetic disease ISO RGD:1347625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171765 GOLPH3L golgi phosphoprotein 3 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12171785 IFI30 IFI30 lysosomal thiol reductase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1321848 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 12171785 IFI30 IFI30 lysosomal thiol reductase gene DOID:3042 allergic contact dermatitis ISO RGD:1321848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17597826 12171785 IFI30 IFI30 lysosomal thiol reductase gene DOID:630 genetic disease ISO RGD:1321848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171785 IFI30 IFI30 lysosomal thiol reductase gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1321848 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12171785 IFI30 IFI30 lysosomal thiol reductase gene DOID:9119 acute myeloid leukemia ISO RGD:1321848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12171801 ADCY2 adenylate cyclase 2 gene DOID:2841 asthma ISO RGD:734219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21912604 12171801 ADCY2 adenylate cyclase 2 gene DOID:3312 bipolar disorder ISO RGD:734219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12171801 ADCY2 adenylate cyclase 2 gene DOID:630 genetic disease ISO RGD:734219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171830 PPA1 inorganic pyrophosphatase 1 gene DOID:630 genetic disease ISO RGD:1352864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171845 PHB1 prohibitin 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 12171845 PHB1 prohibitin 1 gene DOID:11054 urinary bladder cancer ISO RGD:3322 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:8062216|REF_RGD_ID:2292407 12171845 PHB1 prohibitin 1 gene DOID:1612 breast cancer ISO RGD:736948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to PMID:11377649|PMID:8809404 12171845 PHB1 prohibitin 1 gene DOID:1612 breast cancer no_association ISO RGD:736948 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1703C>T PMID:14652295|REF_RGD_ID:2292402 12171845 PHB1 prohibitin 1 gene DOID:1612 breast cancer susceptibility ISO RGD:736948 D RGD:7240710 20230505 OMIM 12171845 PHB1 prohibitin 1 gene DOID:2394 ovarian cancer ISO RGD:736948 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 12171845 PHB1 prohibitin 1 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:736948 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:17465217|REF_RGD_ID:2292396 12171845 PHB1 prohibitin 1 gene DOID:299 adenocarcinoma ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 12171845 PHB1 prohibitin 1 gene DOID:305 carcinoma ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12171845 PHB1 prohibitin 1 gene DOID:5419 schizophrenia ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18504422 12171845 PHB1 prohibitin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12171845 PHB1 prohibitin 1 gene DOID:8029 sporadic breast cancer ISO RGD:736948 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity, mutations: :multiple PMID:1540973|REF_RGD_ID:2292408 12171845 PHB1 prohibitin 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:736948 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:18384941|REF_RGD_ID:2292382 12171845 PHB1 prohibitin 1 gene DOID:8646 substance-induced psychosis ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18504422 12171845 PHB1 prohibitin 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:736948 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:16426920|REF_RGD_ID:2292398 12171845 PHB1 prohibitin 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 12171845 PHB1 prohibitin 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696|PMID:21364753 12171845 PHB1 prohibitin 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12171845 PHB1 prohibitin 1 gene DOID:9000784 Fibrosis ISO RGD:736948 D RGD:9068941 20200609 RGD associated with Glomerulonephritis;protein:decreased expression:kidney, epithelial cell PMID:17043753|REF_RGD_ID:2292410 12171845 PHB1 prohibitin 1 gene DOID:9000918 Disease Progression ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12171845 PHB1 prohibitin 1 gene DOID:9000998 Brain Injuries ISO RGD:3322 D RGD:9068941 20200609 RGD protein:increased oxidation:cerebral cortex PMID:17518533|REF_RGD_ID:2292409 12171845 PHB1 prohibitin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736948 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:18384941|REF_RGD_ID:2292382 12171845 PHB1 prohibitin 1 gene DOID:9002762 Ovarian Neoplasms no_association ISO RGD:736948 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1703C>T PMID:12821355|REF_RGD_ID:2292403 12171845 PHB1 prohibitin 1 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:736948 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:16426920|REF_RGD_ID:2292398 12171845 PHB1 prohibitin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3322 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mammary gland PMID:12376462|REF_RGD_ID:2292404 12171845 PHB1 prohibitin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12171845 PHB1 prohibitin 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:736948 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:10421803|REF_RGD_ID:2292406 12171845 PHB1 prohibitin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12171856 MCTS1 MCTS1 re-initiation and release factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12171856 MCTS1 MCTS1 re-initiation and release factor gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1351081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 12171856 MCTS1 MCTS1 re-initiation and release factor gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1351081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 12171856 MCTS1 MCTS1 re-initiation and release factor gene DOID:12849 autistic disorder ISO RGD:1351081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12171869 MFSD4B major facilitator superfamily domain containing 4B gene DOID:630 genetic disease ISO RGD:1321427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171877 GPR85 G protein-coupled receptor 85 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12171877 GPR85 G protein-coupled receptor 85 gene DOID:630 genetic disease ISO RGD:736296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171877 GPR85 G protein-coupled receptor 85 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12171885 PHRF1 PHD and ring finger domains 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12171885 PHRF1 PHD and ring finger domains 1 gene DOID:0050729 neutral lipid storage disease ISO RGD:1605972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 12171885 PHRF1 PHD and ring finger domains 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1605972 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12171885 PHRF1 PHD and ring finger domains 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1605972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12171885 PHRF1 PHD and ring finger domains 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12171885 PHRF1 PHD and ring finger domains 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1605972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 12171885 PHRF1 PHD and ring finger domains 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1605972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12171885 PHRF1 PHD and ring finger domains 1 gene DOID:630 genetic disease ISO RGD:1605972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171885 PHRF1 PHD and ring finger domains 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1605972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18204446 12171911 CABP5 calcium binding protein 5 gene DOID:630 genetic disease ISO RGD:1317691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171923 SPTBN4 spectrin beta, non-erythrocytic 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:1312269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12171923 SPTBN4 spectrin beta, non-erythrocytic 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1312269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12171923 SPTBN4 spectrin beta, non-erythrocytic 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1312269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12171923 SPTBN4 spectrin beta, non-erythrocytic 4 gene DOID:2340 craniosynostosis ISO RGD:1312269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12171923 SPTBN4 spectrin beta, non-erythrocytic 4 gene DOID:4450 renal cell carcinoma ISO RGD:1312269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 12171923 SPTBN4 spectrin beta, non-erythrocytic 4 gene DOID:630 genetic disease ISO RGD:1312269 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29861105|PMID:34440880 12171923 SPTBN4 spectrin beta, non-erythrocytic 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1312269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12171923 SPTBN4 spectrin beta, non-erythrocytic 4 gene DOID:9006836 Contracture ISO RGD:1312269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 12171923 SPTBN4 spectrin beta, non-erythrocytic 4 gene DOID:9007907 Congenital Myopathy with Neuropathy and Deafness ISO RGD:1312269 D RGD:7240710 20190315 OMIM 12171923 SPTBN4 spectrin beta, non-erythrocytic 4 gene DOID:9007907 Congenital Myopathy with Neuropathy and Deafness ISO RGD:1312269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with neuropathy and deafness PMID:25741868|PMID:28492532|PMID:28540413|PMID:29861105|PMID:34440880 12171923 SPTBN4 spectrin beta, non-erythrocytic 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1312269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12171923 SPTBN4 spectrin beta, non-erythrocytic 4 gene DOID:9269 maple syrup urine disease ISO RGD:1312269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12171964 PTPRG protein tyrosine phosphatase receptor type G gene DOID:630 genetic disease ISO RGD:735532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12171964 PTPRG protein tyrosine phosphatase receptor type G gene DOID:9000217 Stomach Neoplasms ISO RGD:735532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963294 12172006 PREX1 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1315206 D RGD:9068941 20220825 MouseDO 12172006 PREX1 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1 gene DOID:10283 prostate cancer ISO RGD:1603014 D RGD:9068941 20200609 RGD protein:increased expression:prostate, lymph node PMID:19305425|REF_RGD_ID:2314605 12172006 PREX1 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1 gene DOID:630 genetic disease ISO RGD:1603014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12172006 PREX1 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1603014 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:19305425|REF_RGD_ID:2314605 12172050 WDFY1 WD repeat and FYVE domain containing 1 gene DOID:630 genetic disease ISO RGD:1314357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12172050 WDFY1 WD repeat and FYVE domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12172069 HDDC3 HD domain containing 3 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1606390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12172069 HDDC3 HD domain containing 3 gene DOID:2717 Bloom syndrome ISO RGD:1606390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12172069 HDDC3 HD domain containing 3 gene DOID:630 genetic disease ISO RGD:1606390 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12172077 POLN DNA polymerase nu gene DOID:10283 prostate cancer ISO RGD:1354283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12172077 POLN DNA polymerase nu gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1354283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12172077 POLN DNA polymerase nu gene DOID:1856 cherubism ISO RGD:1354283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12172077 POLN DNA polymerase nu gene DOID:630 genetic disease ISO RGD:1354283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12172107 ROBO3 roundabout guidance receptor 3 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1322248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12172107 ROBO3 roundabout guidance receptor 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1322248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12172107 ROBO3 roundabout guidance receptor 3 gene DOID:12849 autistic disorder ISO RGD:1322248 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18270976 12172107 ROBO3 roundabout guidance receptor 3 gene DOID:5419 schizophrenia ISO RGD:1322248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12172107 ROBO3 roundabout guidance receptor 3 gene DOID:630 genetic disease ISO RGD:1322248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32580277 12172107 ROBO3 roundabout guidance receptor 3 gene DOID:9000998 Brain Injuries ISO RGD:1311018 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:16262652|REF_RGD_ID:2316136 12172107 ROBO3 roundabout guidance receptor 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12172107 ROBO3 roundabout guidance receptor 3 gene DOID:9004787 Familial Horizontal Gaze Palsy with Progressive Scoliosis ISO RGD:1322248 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12172107 ROBO3 roundabout guidance receptor 3 gene DOID:9004843 Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 ISO RGD:1322248 D RGD:7240710 20190327 OMIM 12172107 ROBO3 roundabout guidance receptor 3 gene DOID:9004843 Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 ISO RGD:1322248 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1 PMID:15105459|PMID:16525029|PMID:16772357|PMID:18829051|PMID:19041479|PMID:19633821|PMID:21850172|PMID:24969490|PMID:25326635|PMID:25741868|PMID:27318526|PMID:28024310|PMID:28492532|PMID:29215389|PMID:32373565|PMID:32580277|PMID:32860008|PMID:34374989 12172107 ROBO3 roundabout guidance receptor 3 gene DOID:9007661 Dwarfism ISO RGD:1322248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12172163 REXO2 RNA exonuclease 2 gene DOID:1059 intellectual disability ISO RGD:1603665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12172163 REXO2 RNA exonuclease 2 gene DOID:630 genetic disease ISO RGD:1603665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12172163 REXO2 RNA exonuclease 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12172174 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:1318815 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness PMID:17253968|PMID:23695678|PMID:25741868|PMID:28971506|PMID:29449963|PMID:29952828|PMID:9827909 12172174 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1318815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 12172174 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1318815 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12172174 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:0111391 mucopolysaccharidosis IVA ISO RGD:1318815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:25545067|PMID:25741868|PMID:28492532|PMID:34387910 12172174 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:0111576 dehydrated hereditary stomatocytosis 1 ISO RGD:1318815 D RGD:7240710 20180130 OMIM 12172174 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:0111576 dehydrated hereditary stomatocytosis 1 ISO RGD:1318815 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH PMID:16898969|PMID:17253968|PMID:21944700|PMID:22529292|PMID:23479567|PMID:23487776|PMID:23581886|PMID:23695678|PMID:23973043|PMID:24033266|PMID:24314002|PMID:25741868|PMID:28492532|PMID:28518170|PMID:28716860|PMID:28971506|PMID:29449963|PMID:29952828|PMID:5559828|PMID:89283|PMID:9827909 12172174 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:14780 KBG syndrome ISO RGD:1318815 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 12172174 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:583 hemolytic anemia ISO RGD:1318815 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:25741868 12172174 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:589 congenital hemolytic anemia ISO RGD:1318815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868 12172174 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:630 genetic disease ISO RGD:1318815 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:36122374 12172174 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:8488 polyhydramnios ISO RGD:1318815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:25741868|PMID:30244526|PMID:31680349 12172174 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:9000957 Hereditary Lymphedema III ISO RGD:1318815 D RGD:7240710 20190315 OMIM 12172174 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:9000957 Hereditary Lymphedema III ISO RGD:1318815 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: LYMPHATIC MALFORMATION 6 | ClinVar Annotator: match by term: Lymphatic malformation 6 | ClinVar Annotator: match by term: Lymphedema, hereditary, III PMID:25741868|PMID:25741889|PMID:26333996|PMID:26780541|PMID:28492532|PMID:30244526|PMID:36122374 12172174 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1318815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12172174 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:9004927 Stomatocytosis II ISO RGD:1318815 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Stomatocytosis II PMID:16898969|PMID:17253968|PMID:21944700|PMID:22529292|PMID:23479567|PMID:23487776|PMID:23581886|PMID:23695678|PMID:23973043|PMID:24033266|PMID:24314002|PMID:25741868|PMID:28492532|PMID:28518170|PMID:28716860|PMID:28971506|PMID:29449963|PMID:29952828|PMID:5559828|PMID:89283|PMID:9827909 12172174 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1318815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868|PMID:28492532|PMID:28619848|PMID:30187933|PMID:30244526|PMID:30655378|PMID:30887001|PMID:31091145|PMID:31624108|PMID:31680349|PMID:32981126|PMID:33027564 12172174 PIEZO1 piezo type mechanosensitive ion channel component 1 gene DOID:9009244 Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome ISO RGD:1318815 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome PMID:25741868|PMID:28492532 12172233 KIF14 kinesin family member 14 gene DOID:0050777 Joubert syndrome ISO RGD:1321678 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders 12172233 KIF14 kinesin family member 14 gene DOID:0050777 Joubert syndrome ISO RGD:1321678 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:23308235|PMID:28492532|PMID:29343805|PMID:30388224 12172233 KIF14 kinesin family member 14 gene DOID:0080600 COVID-19 ISO RGD:1321678 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12172233 KIF14 kinesin family member 14 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1321678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12172233 KIF14 kinesin family member 14 gene DOID:1540 parathyroid carcinoma ISO RGD:1321678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12172233 KIF14 kinesin family member 14 gene DOID:630 genetic disease ISO RGD:1321678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12172233 KIF14 kinesin family member 14 gene DOID:684 hepatocellular carcinoma ISO RGD:1321678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12172233 KIF14 kinesin family member 14 gene DOID:9002190 Meckel Syndrome 12 ISO RGD:1321678 D RGD:7240710 20180130 OMIM 12172233 KIF14 kinesin family member 14 gene DOID:9002190 Meckel Syndrome 12 ISO RGD:1321678 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Meckel syndrome 12 PMID:24128419|PMID:25741868|PMID:28492532 12172233 KIF14 kinesin family member 14 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1321678 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12172233 KIF14 kinesin family member 14 gene DOID:9009149 Primary Autosomal Recessive Microcephaly 20 ISO RGD:1321678 D RGD:7240710 20190315 OMIM 12172233 KIF14 kinesin family member 14 gene DOID:9009149 Primary Autosomal Recessive Microcephaly 20 ISO RGD:1321678 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly 20, primary, autosomal recessive PMID:23308235|PMID:25741868|PMID:28492532|PMID:28892560|PMID:29343805|PMID:30388224 12172233 KIF14 kinesin family member 14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12172266 LOC607692 general transcription factor II-I repeat domain-containing protein 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12172266 LOC607692 general transcription factor II-I repeat domain-containing protein 2 gene DOID:630 genetic disease ISO RGD:1604691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12172266 LOC607692 general transcription factor II-I repeat domain-containing protein 2 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1604691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12172288 BNIP3L BCL2 interacting protein 3 like gene DOID:11714 gestational diabetes ISO RGD:621354 D RGD:9068941 20200609 RGD PMID:26512955|REF_RGD_ID:11564338 12172288 BNIP3L BCL2 interacting protein 3 like gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1549974 D RGD:9068941 20200609 RGD PMID:29440992|REF_RGD_ID:13506949 12172288 BNIP3L BCL2 interacting protein 3 like gene DOID:3525 middle cerebral artery infarction ISO RGD:621354 D RGD:9068941 20200609 RGD PMID:15902200|PMID:21029239|REF_RGD_ID:2314138|REF_RGD_ID:9068917 12172288 BNIP3L BCL2 interacting protein 3 like gene DOID:4989 pancreatitis ISO RGD:621354 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:14530762|REF_RGD_ID:7483579 12172288 BNIP3L BCL2 interacting protein 3 like gene DOID:630 genetic disease ISO RGD:1350585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12172288 BNIP3L BCL2 interacting protein 3 like gene DOID:9000039 Spinal Cord Injuries ISO RGD:621354 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:23637053|REF_RGD_ID:11564330 12172288 BNIP3L BCL2 interacting protein 3 like gene DOID:9002676 Cerebral Hemorrhage ISO RGD:621354 D RGD:9068941 20200609 RGD PMID:23771482|REF_RGD_ID:7483577 12172288 BNIP3L BCL2 interacting protein 3 like gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:621354 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:24072673|REF_RGD_ID:10402542 12172298 SYCP2L synaptonemal complex protein 2 like gene DOID:630 genetic disease ISO RGD:1604969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12172333 SUSD4 sushi domain containing 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1605987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12172333 SUSD4 sushi domain containing 4 gene DOID:630 genetic disease ISO RGD:1605987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12172333 SUSD4 sushi domain containing 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12172346 KRTCAP3 keratinocyte associated protein 3 gene DOID:0081009 Bardet-Biedl syndrome 20 ISO RGD:1342898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 20 PMID:25168386 12172346 KRTCAP3 keratinocyte associated protein 3 gene DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly ISO RGD:1342898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly PMID:11030072|PMID:16199547|PMID:17576681|PMID:24140113|PMID:25664603|PMID:25741868|PMID:28492532|PMID:33393400|PMID:9536098 12172346 KRTCAP3 keratinocyte associated protein 3 gene DOID:0110363 retinitis pigmentosa 71 ISO RGD:1342898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 71 PMID:25168386 12172346 KRTCAP3 keratinocyte associated protein 3 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1342898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 12172346 KRTCAP3 keratinocyte associated protein 3 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1342898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12172346 KRTCAP3 keratinocyte associated protein 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1342898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11030072|PMID:24140113|PMID:25664603|PMID:25741868|PMID:28492532 12172346 KRTCAP3 keratinocyte associated protein 3 gene DOID:630 genetic disease ISO RGD:1342898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12172359 UNC50 unc-50 inner nuclear membrane RNA binding protein gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1343022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12172359 UNC50 unc-50 inner nuclear membrane RNA binding protein gene DOID:630 genetic disease ISO RGD:1343022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12172374 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:0080519 PAPA syndrome ISO RGD:1316821 D RGD:7240710 20180130 OMIM 12172374 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:0080519 PAPA syndrome ISO RGD:1316821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial recurrent arthritis | ClinVar Annotator: match by term: Pyogenic arthritis, pyoderma gangrenosum and acne PMID:11971877|PMID:14595024|PMID:15580218|PMID:16199547|PMID:16527883|PMID:17576681|PMID:19673875|PMID:19934105|PMID:20506269|PMID:22161697|PMID:22513199|PMID:23571383|PMID:24139496|PMID:25683018|PMID:25741868|PMID:25845478|PMID:26025129|PMID:26386126|PMID:27577878|PMID:28492532|PMID:28628471|PMID:28960754|PMID:29150835|PMID:29432774|PMID:30198636|PMID:30290665|PMID:30783801|PMID:31119601|PMID:31789267|PMID:32054657|PMID:32441320|PMID:32888943|PMID:33597285|PMID:34399798|PMID:34620178|PMID:9536098 12172374 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:13241 Behcet's disease ISO RGD:1316821 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Behcet disease | ClinVar Annotator: match by term: Behcet's syndrome PMID:25741868|PMID:28492532 12172374 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:2280 hidradenitis suppurativa ISO RGD:1316821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 12172374 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1316821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12172374 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1316821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:25741868|PMID:27577878|PMID:28492532|PMID:30290665 12172374 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:5419 schizophrenia ISO RGD:1316821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12172374 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:630 genetic disease ISO RGD:1316821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12172374 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:6543 acne ISO RGD:1316821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 12172374 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:8553 pyoderma gangrenosum ISO RGD:1316821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 12172374 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12172374 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:9256 colorectal cancer ISO RGD:1316821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12172391 PGLYRP1 peptidoglycan recognition protein 1 gene DOID:630 genetic disease ISO RGD:1351704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12172391 PGLYRP1 peptidoglycan recognition protein 1 gene DOID:9000998 Brain Injuries ISO RGD:1351704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 12172398 IL22RA1 interleukin 22 receptor subunit alpha 1 gene DOID:630 genetic disease ISO RGD:1352751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12172398 IL22RA1 interleukin 22 receptor subunit alpha 1 gene DOID:9005941 Rhinosinusitis susceptibility ISO RGD:1352751 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr, intron: (rs4292900, rs16829225, rs4648936) (human) PMID:19393422|REF_RGD_ID:5147411 12172398 IL22RA1 interleukin 22 receptor subunit alpha 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1352751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12172418 EHD1 EH domain containing 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1319124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12172418 EHD1 EH domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1319124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12172418 EHD1 EH domain containing 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12172418 EHD1 EH domain containing 1 gene DOID:2746 glycogen storage disease V ISO RGD:1319124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12172418 EHD1 EH domain containing 1 gene DOID:3070 high grade glioma ISO RGD:1319124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12172418 EHD1 EH domain containing 1 gene DOID:630 genetic disease ISO RGD:1319124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12172418 EHD1 EH domain containing 1 gene DOID:9970 obesity ISO RGD:1309017 D RGD:9068941 20200609 RGD PMID:21365757|REF_RGD_ID:8661255 12172432 RHOBTB3 Rho related BTB domain containing 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323267 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12172432 RHOBTB3 Rho related BTB domain containing 3 gene DOID:0080600 COVID-19 ISO RGD:1323267 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12172432 RHOBTB3 Rho related BTB domain containing 3 gene DOID:630 genetic disease ISO RGD:1323267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12172432 RHOBTB3 Rho related BTB domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12172432 RHOBTB3 Rho related BTB domain containing 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323267 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12172454 MIR216A microRNA mir-216a gene DOID:10591 pre-eclampsia ameliorates ISO RGD:2325406 D RGD:9068941 20230323 RGD PMID:31203154|REF_RGD_ID:213230155 12172454 MIR216A microRNA mir-216a gene DOID:4989 pancreatitis ISO RGD:1353818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12172538 IL2 interleukin 2 gene DOID:0050127 sinusitis ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:11758471|REF_RGD_ID:8662964 12172538 IL2 interleukin 2 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23962110 12172538 IL2 interleukin 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:733315 D RGD:9068941 20220825 MouseDO 12172538 IL2 interleukin 2 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:620047 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:17338814|REF_RGD_ID:8662972 12172538 IL2 interleukin 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:10389944|REF_RGD_ID:8662949 12172538 IL2 interleukin 2 gene DOID:0060224 atrial fibrillation ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:17923414|REF_RGD_ID:8662962 12172538 IL2 interleukin 2 gene DOID:0060500 drug allergy ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:1549655|REF_RGD_ID:8662975 12172538 IL2 interleukin 2 gene DOID:0080199 colorectal carcinoma treatment ISO RGD:620047 D RGD:9068941 20210611 RGD PMID:29229353|REF_RGD_ID:127284843 12172538 IL2 interleukin 2 gene DOID:0080599 Coronavirus infectious disease ISO RGD:733315 D RGD:9068941 20200618 RGD PMID:19906920|REF_RGD_ID:4891446 12172538 IL2 interleukin 2 gene DOID:0080600 COVID-19 ISO RGD:730858 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 12172538 IL2 interleukin 2 gene DOID:0080600 COVID-19 ISO RGD:730858 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:31986264 12172538 IL2 interleukin 2 gene DOID:0080600 COVID-19 severity ISO RGD:730858 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 12172538 IL2 interleukin 2 gene DOID:0081120 Graves ophthalmopathy ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:2786308|REF_RGD_ID:8662939 12172538 IL2 interleukin 2 gene DOID:0081267 graft-versus-host disease ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:21734238|PMID:8704686|REF_RGD_ID:5147911|REF_RGD_ID:8662974 12172538 IL2 interleukin 2 gene DOID:0111079 birdshot chorioretinopathy ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor PMID:21570674|REF_RGD_ID:5147908 12172538 IL2 interleukin 2 gene DOID:10003 sensorineural hearing loss ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:9693304|REF_RGD_ID:8662926 12172538 IL2 interleukin 2 gene DOID:104 bacterial infectious disease ISO RGD:730858 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:decreased expression:blood PMID:21574159|REF_RGD_ID:5147907 12172538 IL2 interleukin 2 gene DOID:10652 Alzheimer's disease ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:8915041|REF_RGD_ID:10047080 12172538 IL2 interleukin 2 gene DOID:10652 Alzheimer's disease severity ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased secretion:mononuclear cell: PMID:8586980|REF_RGD_ID:10047081 12172538 IL2 interleukin 2 gene DOID:1067 open-angle glaucoma ISO RGD:730858 D RGD:9068941 20200609 RGD protein:decreased expression:aqueous humor PMID:21834929|REF_RGD_ID:5147910 12172538 IL2 interleukin 2 gene DOID:10754 otitis media disease_progression ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:7769948|REF_RGD_ID:8662922 12172538 IL2 interleukin 2 gene DOID:10914 amnestic disorder ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8241462 12172538 IL2 interleukin 2 gene DOID:10964 cholesteatoma of middle ear ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:8737779|REF_RGD_ID:8662931 12172538 IL2 interleukin 2 gene DOID:11054 urinary bladder cancer ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1949363|PMID:3495671 12172538 IL2 interleukin 2 gene DOID:11054 urinary bladder cancer treatment ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:3262172|REF_RGD_ID:8663471 12172538 IL2 interleukin 2 gene DOID:11168 anogenital venereal wart ISO RGD:730858 D RGD:9068941 20201105 RGD protein:decreased expression:peripheral blood mononuclear cells (human) PMID:23754510|REF_RGD_ID:40400714 12172538 IL2 interleukin 2 gene DOID:1184 nephrotic syndrome ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19242727 12172538 IL2 interleukin 2 gene DOID:1205 allergic disease ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:21509781|REF_RGD_ID:5147912 12172538 IL2 interleukin 2 gene DOID:12306 vitiligo ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22342018|REF_RGD_ID:8663475 12172538 IL2 interleukin 2 gene DOID:12361 Graves' disease ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:2279527|REF_RGD_ID:8662947 12172538 IL2 interleukin 2 gene DOID:1240 leukemia ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17500047 12172538 IL2 interleukin 2 gene DOID:12704 ataxia telangiectasia ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:6432389|REF_RGD_ID:8693328 12172538 IL2 interleukin 2 gene DOID:12849 autistic disorder ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16360218|PMID:18929414 12172538 IL2 interleukin 2 gene DOID:12894 Sjogren's syndrome ISO RGD:733315 D RGD:9068941 20220825 MouseDO OMIM:270150 12172538 IL2 interleukin 2 gene DOID:13141 uveitis ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor,serum PMID:10865312|REF_RGD_ID:7365086 12172538 IL2 interleukin 2 gene DOID:13241 Behcet's disease ISO RGD:730858 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter (human) PMID:21640045|REF_RGD_ID:5147902 12172538 IL2 interleukin 2 gene DOID:13580 cholestasis treatment ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:29698570|REF_RGD_ID:14928214 12172538 IL2 interleukin 2 gene DOID:14566 disease of cellular proliferation ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12579325 12172538 IL2 interleukin 2 gene DOID:1470 major depressive disorder ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12635532 12172538 IL2 interleukin 2 gene DOID:1474 aggressive periodontitis ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:21730256|REF_RGD_ID:5147873 12172538 IL2 interleukin 2 gene DOID:1577 limited scleroderma susceptibility ISO RGD:730858 D RGD:9068941 20200609 RGD DNA:polymorphism::-384T>G(human) PMID:17444587|REF_RGD_ID:4142872 12172538 IL2 interleukin 2 gene DOID:1679 cystitis ISO RGD:620047 D RGD:9068941 20200609 RGD PMID:20860016|REF_RGD_ID:5147913 12172538 IL2 interleukin 2 gene DOID:1749 squamous cell carcinoma treatment ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:11023201|REF_RGD_ID:8663457 12172538 IL2 interleukin 2 gene DOID:1793 pancreatic cancer treatment ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:9080118|REF_RGD_ID:8663440 12172538 IL2 interleukin 2 gene DOID:1883 hepatitis C ISO RGD:730858 D RGD:9068941 20201112 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:17553896|REF_RGD_ID:40400745 12172538 IL2 interleukin 2 gene DOID:1884 viral hepatitis susceptibility ISO RGD:730858 D RGD:9068941 20200609 RGD DNA:polymorphism::-330T>G(human) PMID:21162873|REF_RGD_ID:14747036 12172538 IL2 interleukin 2 gene DOID:1909 melanoma ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12374674|PMID:12439608|PMID:15577323|PMID:15917704|PMID:16131448|PMID:16248763|PMID:16260693|PMID:16432458|PMID:16809738|PMID:16939954|PMID:17023156|PMID:17105418|PMID:17576460|PMID:17709802|PMID:17761969|PMID:18176117|PMID:18281670|PMID:18298334|PMID:18332650|PMID:18999936|PMID:19243244|PMID:20423231 12172538 IL2 interleukin 2 gene DOID:1936 atherosclerosis ISO RGD:733315 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:21606463|REF_RGD_ID:5147904 12172538 IL2 interleukin 2 gene DOID:2043 hepatitis B ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:25968473|REF_RGD_ID:14747044 12172538 IL2 interleukin 2 gene DOID:2048 autoimmune hepatitis ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 12172538 IL2 interleukin 2 gene DOID:2048 autoimmune hepatitis ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:29233784|REF_RGD_ID:14747042 12172538 IL2 interleukin 2 gene DOID:2048 autoimmune hepatitis disease_progression ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:29323192|REF_RGD_ID:14747037 12172538 IL2 interleukin 2 gene DOID:2055 post-traumatic stress disorder ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:21714072|REF_RGD_ID:5147887 12172538 IL2 interleukin 2 gene DOID:2355 anemia ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7678812 12172538 IL2 interleukin 2 gene DOID:2508 Takayasu's arteritis disease_progression ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:2574087|REF_RGD_ID:8693331 12172538 IL2 interleukin 2 gene DOID:2508 Takayasu's arteritis susceptibility ISO RGD:730858 D RGD:9068941 20200609 RGD DNA:polymorphism::-300G>T(human) PMID:17002904|REF_RGD_ID:8663467 12172538 IL2 interleukin 2 gene DOID:2841 asthma ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:20926789|REF_RGD_ID:4889118 12172538 IL2 interleukin 2 gene DOID:2841 asthma susceptibility ISO RGD:730858 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs2069762(human) PMID:16333313|REF_RGD_ID:8663473 12172538 IL2 interleukin 2 gene DOID:2921 glomerulonephritis ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10910440|PMID:9403216 12172538 IL2 interleukin 2 gene DOID:3042 allergic contact dermatitis ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11312644|PMID:22245253 12172538 IL2 interleukin 2 gene DOID:3068 glioblastoma ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7719933 12172538 IL2 interleukin 2 gene DOID:3070 high grade glioma treatment ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:12864971|REF_RGD_ID:8663439 12172538 IL2 interleukin 2 gene DOID:3082 interstitial lung disease ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:21257923|REF_RGD_ID:5144220 12172538 IL2 interleukin 2 gene DOID:3310 atopic dermatitis ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:1673687|REF_RGD_ID:8693325 12172538 IL2 interleukin 2 gene DOID:3310 atopic dermatitis ISO RGD:730858 D RGD:9068941 20200609 RGD associated with food hypersensitivity; PMID:7547077|REF_RGD_ID:8662961 12172538 IL2 interleukin 2 gene DOID:3310 atopic dermatitis ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased expression:CD8+ T cell: PMID:16672002|REF_RGD_ID:8549583 12172538 IL2 interleukin 2 gene DOID:3310 atopic dermatitis ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:21982597|REF_RGD_ID:8663444 12172538 IL2 interleukin 2 gene DOID:3310 atopic dermatitis susceptibility ISO RGD:730858 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs2069762(human) PMID:16333313|REF_RGD_ID:8663473 12172538 IL2 interleukin 2 gene DOID:3454 brain infarction ISO RGD:620047 D RGD:9068941 20230216 RGD protein:increased expression:brain (rat) PMID:19895873|REF_RGD_ID:2325193 12172538 IL2 interleukin 2 gene DOID:418 systemic scleroderma ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:2213757|REF_RGD_ID:8663482 12172538 IL2 interleukin 2 gene DOID:4450 renal cell carcinoma ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:21812652|REF_RGD_ID:5147871 12172538 IL2 interleukin 2 gene DOID:4481 allergic rhinitis ISO RGD:620047 D RGD:9068941 20200609 RGD PMID:12592663|REF_RGD_ID:8662963 12172538 IL2 interleukin 2 gene DOID:4483 rhinitis susceptibility ISO RGD:730858 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs2069762(human) PMID:16333313|REF_RGD_ID:8663473 12172538 IL2 interleukin 2 gene DOID:5082 liver cirrhosis treatment ISO RGD:733315 D RGD:9068941 20200609 RGD associated with sclerosing cholangitis PMID:29698570|REF_RGD_ID:14928214 12172538 IL2 interleukin 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 12172538 IL2 interleukin 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:2787951|PMID:3263896|REF_RGD_ID:8662923|REF_RGD_ID:8662971 12172538 IL2 interleukin 2 gene DOID:612 primary immunodeficiency disease treatment ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:3048654|REF_RGD_ID:8693330 12172538 IL2 interleukin 2 gene DOID:615 leukopenia ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7678812 12172538 IL2 interleukin 2 gene DOID:627 severe combined immunodeficiency ISO RGD:730858 D RGD:9068941 20200609 RGD mRNA:decreased_expression::no detectable IL2 mRNA PMID:2342538|REF_RGD_ID:1600060 12172538 IL2 interleukin 2 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9861562 12172538 IL2 interleukin 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased expression:mononuclear cell PMID:21859687|REF_RGD_ID:5147870 12172538 IL2 interleukin 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:10933975|PMID:9449371|REF_RGD_ID:14747035|REF_RGD_ID:8693323 12172538 IL2 interleukin 2 gene DOID:7148 rheumatoid arthritis ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:6421522|REF_RGD_ID:8662948 12172538 IL2 interleukin 2 gene DOID:850 lung disease ISO RGD:730858 D RGD:9068941 20200806 RGD associated with HTLV-I Infections;protein:increased expression:bronchoalveolar lavage fluid: PMID:24292748|REF_RGD_ID:36947872 12172538 IL2 interleukin 2 gene DOID:8506 bullous pemphigoid ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:1973607|REF_RGD_ID:8663461 12172538 IL2 interleukin 2 gene DOID:8536 herpes zoster ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased expression:: PMID:21954956|REF_RGD_ID:8663478 12172538 IL2 interleukin 2 gene DOID:8893 psoriasis disease_progression ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:2448994|REF_RGD_ID:10047079 12172538 IL2 interleukin 2 gene DOID:8924 autoimmune thrombocytopenic purpura susceptibility ISO RGD:730858 D RGD:9068941 20200609 RGD DNA:polymorphism::-330T>G(human) PMID:20626741|REF_RGD_ID:11528541 12172538 IL2 interleukin 2 gene DOID:9000099 Experimental Colitis ISO RGD:620047 D RGD:9068941 20200609 RGD PMID:16630696|REF_RGD_ID:8662978 12172538 IL2 interleukin 2 gene DOID:9000641 Pain ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12421473 12172538 IL2 interleukin 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17105418 12172538 IL2 interleukin 2 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:730858 D RGD:9068941 20200609 RGD associated with melanoma PMID:8642346|REF_RGD_ID:14747043 12172538 IL2 interleukin 2 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:730858 D RGD:9068941 20200609 RGD associated with melanoma; PMID:8610104|REF_RGD_ID:8663438 12172538 IL2 interleukin 2 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:730858 D RGD:9068941 20200609 RGD associated with neuroblastoma. PMID:9362156|REF_RGD_ID:14865005 12172538 IL2 interleukin 2 gene DOID:9000972 Fever ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635092 12172538 IL2 interleukin 2 gene DOID:9000998 Brain Injuries ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 12172538 IL2 interleukin 2 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:730858 D RGD:9068941 20200609 RGD associated with Macular Degeneration;protein:decreased expression:aqueous humor: PMID:19262441|REF_RGD_ID:10047086 12172538 IL2 interleukin 2 gene DOID:9001109 Anorexia ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635092 12172538 IL2 interleukin 2 gene DOID:9001365 Amebic Liver Abscess treatment ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:10862314|REF_RGD_ID:14928216 12172538 IL2 interleukin 2 gene DOID:9001488 Human Influenza ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21603856|REF_RGD_ID:5147905 12172538 IL2 interleukin 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:620047 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 12172538 IL2 interleukin 2 gene DOID:9001579 Neurogenic Inflammation ISO RGD:620047 D RGD:9068941 20200609 RGD protein:decreased expression:dorsal root ganglion PMID:16887276|REF_RGD_ID:8663437 12172538 IL2 interleukin 2 gene DOID:9002170 Experimental Neoplasms ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1949363|PMID:22306178|PMID:3495671 12172538 IL2 interleukin 2 gene DOID:9002211 Hyperalgesia ISO RGD:620047 D RGD:9068941 20200609 RGD PMID:12755376|REF_RGD_ID:8662973 12172538 IL2 interleukin 2 gene DOID:9002211 Hyperalgesia ISO RGD:620047 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy; mRNA,protein:increased expression:spinal cord: PMID:22189457|REF_RGD_ID:8662977 12172538 IL2 interleukin 2 gene DOID:9002211 Hyperalgesia treatment ISO RGD:620047 D RGD:9068941 20200609 RGD PMID:18423867|REF_RGD_ID:8662980 12172538 IL2 interleukin 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17105418|PMID:18298334|PMID:18625569|PMID:19409039 12172538 IL2 interleukin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17115417 12172538 IL2 interleukin 2 gene DOID:9002331 Knee Osteoarthritis severity ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid: PMID:22035391|REF_RGD_ID:5687147 12172538 IL2 interleukin 2 gene DOID:9002362 Hyperkinesis ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8241462 12172538 IL2 interleukin 2 gene DOID:9002457 Experimental Arthritis ISO RGD:620047 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19169271|REF_RGD_ID:8662976 12172538 IL2 interleukin 2 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:620047 D RGD:9068941 20200609 RGD PMID:2492102|REF_RGD_ID:10047055 12172538 IL2 interleukin 2 gene DOID:9003000 Asthenia ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635092 12172538 IL2 interleukin 2 gene DOID:9003036 Oral Lichen Planus ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:1666936|REF_RGD_ID:8693327 12172538 IL2 interleukin 2 gene DOID:9003278 Neoplasm, Residual ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14654953 12172538 IL2 interleukin 2 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:730858 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:17608155|REF_RGD_ID:8662959 12172538 IL2 interleukin 2 gene DOID:9003690 Carcinoma, Lewis Lung treatment ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:9399664|REF_RGD_ID:8663451 12172538 IL2 interleukin 2 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:12673448|REF_RGD_ID:14807336 12172538 IL2 interleukin 2 gene DOID:9004118 Experimental Melanoma ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:11884028|REF_RGD_ID:8662950 12172538 IL2 interleukin 2 gene DOID:9004283 Transplant Rejection ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:18089405|PMID:22564629|REF_RGD_ID:10047078|REF_RGD_ID:7364833 12172538 IL2 interleukin 2 gene DOID:9004283 Transplant Rejection treatment ISO RGD:620047 D RGD:9068941 20200609 RGD PMID:3291556|REF_RGD_ID:8662936 12172538 IL2 interleukin 2 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:730858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 12172538 IL2 interleukin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12172538 IL2 interleukin 2 gene DOID:9004610 Acute Lung Injury ISO RGD:620047 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:21767135|REF_RGD_ID:6480432 12172538 IL2 interleukin 2 gene DOID:9005172 Lung Neoplasms ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18298334|PMID:18625569|PMID:7614408 12172538 IL2 interleukin 2 gene DOID:9005181 Multi-Infarct Dementia severity ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased secretion:mononuclear cell: PMID:8586980|REF_RGD_ID:10047081 12172538 IL2 interleukin 2 gene DOID:9005236 Drug Eruptions ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31150805 12172538 IL2 interleukin 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620047 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:20213480|REF_RGD_ID:5147915 12172538 IL2 interleukin 2 gene DOID:9006024 Hypotension ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635092 12172538 IL2 interleukin 2 gene DOID:9006618 Liver Metastasis ISO RGD:730858 D RGD:9068941 20200609 RGD associated with colon carcinoma PMID:9354462|REF_RGD_ID:14928215 12172538 IL2 interleukin 2 gene DOID:9006618 Liver Metastasis treatment ISO RGD:730858 D RGD:9068941 20200609 RGD associated with Colorectal Neoplasms, Carcinoma, Hepatocellular; PMID:11591892|REF_RGD_ID:8663446 12172538 IL2 interleukin 2 gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:7929845|REF_RGD_ID:8662951 12172538 IL2 interleukin 2 gene DOID:9006642 Experimental Autoimmune Uveoretinitis disease_progression ISO RGD:620047 D RGD:9068941 20200609 RGD mRNA:increased expression:uvea: PMID:7803357|REF_RGD_ID:8662946 12172538 IL2 interleukin 2 gene DOID:9006698 Vaginal Neoplasms ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15577323 12172538 IL2 interleukin 2 gene DOID:9007188 Liver Neoplasms ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18298334 12172538 IL2 interleukin 2 gene DOID:9007502 Brain Neoplasms ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6319491 12172538 IL2 interleukin 2 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:730858 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-385T>G(human) PMID:19105930|REF_RGD_ID:14747034 12172538 IL2 interleukin 2 gene DOID:9008763 Femoral Fractures ISO RGD:620047 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21442011|REF_RGD_ID:5131471 12172538 IL2 interleukin 2 gene DOID:9008865 Entamoebiasis ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16374615 12172538 IL2 interleukin 2 gene DOID:9008885 Staphylococcal Infections ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:21603642|REF_RGD_ID:5147906 12172538 IL2 interleukin 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730858 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast neoplasm 12172538 IL2 interleukin 2 gene DOID:905 Zellweger syndrome ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:21888010|REF_RGD_ID:14747040 12172538 IL2 interleukin 2 gene DOID:9065 leishmaniasis ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:6224858|REF_RGD_ID:8693326 12172538 IL2 interleukin 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:6421522|REF_RGD_ID:8662948 12172538 IL2 interleukin 2 gene DOID:9182 pemphigus ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:6432916|REF_RGD_ID:8693324 12172538 IL2 interleukin 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:17670937|REF_RGD_ID:2313574 12172538 IL2 interleukin 2 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:3514237|REF_RGD_ID:10047089 12172538 IL2 interleukin 2 gene DOID:986 alopecia areata ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:3261574|REF_RGD_ID:8663449 12172538 IL2 interleukin 2 gene DOID:986 alopecia areata ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:16297194|REF_RGD_ID:8663450 12172546 TXNIP thioredoxin interacting protein gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1343574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 12172546 TXNIP thioredoxin interacting protein gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:732141 D RGD:9068941 20200609 RGD PMID:29482933|REF_RGD_ID:15090806 12172546 TXNIP thioredoxin interacting protein gene DOID:0080600 COVID-19 ISO RGD:1343574 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 12172546 TXNIP thioredoxin interacting protein gene DOID:0111027 hemochromatosis type 2A ISO RGD:1343574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 2A PMID:28492532 12172546 TXNIP thioredoxin interacting protein gene DOID:10534 stomach cancer ISO RGD:620886 D RGD:9068941 20200609 RGD mRNA:decreased expression:stomach PMID:12553030|REF_RGD_ID:1642760 12172546 TXNIP thioredoxin interacting protein gene DOID:14525 Reye syndrome ISO RGD:732141 D RGD:9068941 20220825 MouseDO 12172546 TXNIP thioredoxin interacting protein gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1343574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 12172546 TXNIP thioredoxin interacting protein gene DOID:1540 parathyroid carcinoma ISO RGD:1343574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12172546 TXNIP thioredoxin interacting protein gene DOID:1686 glaucoma ISO RGD:620886 D RGD:9068941 20200609 RGD protein:increased expression:retinal ganglion cell PMID:18701913|REF_RGD_ID:2306193 12172546 TXNIP thioredoxin interacting protein gene DOID:2018 hyperinsulinism susceptibility ISO RGD:732141 D RGD:9068941 20200609 RGD DNA:nonsense mutation PMID:15047687|REF_RGD_ID:1642753 12172546 TXNIP thioredoxin interacting protein gene DOID:289 endometriosis ISO RGD:1343574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12172546 TXNIP thioredoxin interacting protein gene DOID:4450 renal cell carcinoma ISO RGD:620886 D RGD:9068941 20200609 RGD DNA, mRNA, protein:hypermethylation, decreased expression:promoter, kidney PMID:15834431|REF_RGD_ID:1642756 12172546 TXNIP thioredoxin interacting protein gene DOID:5419 schizophrenia ISO RGD:1343574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12172546 TXNIP thioredoxin interacting protein gene DOID:630 genetic disease ISO RGD:1343574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12172546 TXNIP thioredoxin interacting protein gene DOID:684 hepatocellular carcinoma ISO RGD:732141 D RGD:9068941 20220825 MouseDO OMIM:114550 12172546 TXNIP thioredoxin interacting protein gene DOID:7148 rheumatoid arthritis ISO RGD:1343574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 12172546 TXNIP thioredoxin interacting protein gene DOID:9000217 Stomach Neoplasms ISO RGD:1343574 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35246762 12172546 TXNIP thioredoxin interacting protein gene DOID:9000918 Disease Progression ISO RGD:1343574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 12172546 TXNIP thioredoxin interacting protein gene DOID:9002165 Diabetic Nephropathies ISO RGD:1343574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17582205 12172546 TXNIP thioredoxin interacting protein gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:620886 D RGD:9068941 20200609 RGD mRNA:decreased expression:mammary gland PMID:15170812|REF_RGD_ID:1642758 12172546 TXNIP thioredoxin interacting protein gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620886 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17675577|REF_RGD_ID:1642749 12172546 TXNIP thioredoxin interacting protein gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:1343574 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:3' utr PMID:17381501|REF_RGD_ID:1642750 12172546 TXNIP thioredoxin interacting protein gene DOID:9007102 Myocardial Ischemia ISO RGD:620886 D RGD:9068941 20200609 RGD PMID:16172122|REF_RGD_ID:1580789 12172546 TXNIP thioredoxin interacting protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12172546 TXNIP thioredoxin interacting protein gene DOID:9256 colorectal cancer disease_progression ISO RGD:620886 D RGD:9068941 20200609 RGD mRNA:decreased expression:stomach PMID:12553030|REF_RGD_ID:1642760 12172558 DYNLRB1 dynein light chain roadblock-type 1 gene DOID:2843 long QT syndrome ISO RGD:734301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12172558 DYNLRB1 dynein light chain roadblock-type 1 gene DOID:630 genetic disease ISO RGD:734301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12172558 DYNLRB1 dynein light chain roadblock-type 1 gene DOID:684 hepatocellular carcinoma ISO RGD:734301 D RGD:9068941 20200609 RGD PMID:11750132|REF_RGD_ID:13208527 12172571 PRKACB protein kinase cAMP-activated catalytic subunit beta gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1321558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26258846 12172571 PRKACB protein kinase cAMP-activated catalytic subunit beta gene DOID:0050891 adrenal cortical adenoma ISO RGD:1321558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29669941 12172571 PRKACB protein kinase cAMP-activated catalytic subunit beta gene DOID:2316 brain ischemia ISO RGD:1310574 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus, cerebral cortex, cytosol, nucleus PMID:12150772|REF_RGD_ID:7327190 12172571 PRKACB protein kinase cAMP-activated catalytic subunit beta gene DOID:4947 cholangiocarcinoma ISO RGD:1321558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26258846 12172571 PRKACB protein kinase cAMP-activated catalytic subunit beta gene DOID:630 genetic disease ISO RGD:1321558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12172571 PRKACB protein kinase cAMP-activated catalytic subunit beta gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:1310574 D RGD:9068941 20200609 RGD PMID:7769990|REF_RGD_ID:7327191 12172571 PRKACB protein kinase cAMP-activated catalytic subunit beta gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16949795 12172571 PRKACB protein kinase cAMP-activated catalytic subunit beta gene DOID:9003250 Cardioacrofacial Dysplasia 2 ISO RGD:1321558 D RGD:7240710 20210113 OMIM 12172571 PRKACB protein kinase cAMP-activated catalytic subunit beta gene DOID:9003250 Cardioacrofacial Dysplasia 2 ISO RGD:1321558 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cardioacrofacial dysplasia 2 PMID:25741868|PMID:33058759 12172571 PRKACB protein kinase cAMP-activated catalytic subunit beta gene DOID:9005158 Cushing Syndrome ISO RGD:1321558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29669941 12172606 SYK spleen associated tyrosine kinase gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:736160 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33782605 12172606 SYK spleen associated tyrosine kinase gene DOID:0060180 colitis ISO RGD:736160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colitis PMID:25741868|PMID:28492532|PMID:33782605 12172606 SYK spleen associated tyrosine kinase gene DOID:1909 melanoma ISO RGD:736160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 12172606 SYK spleen associated tyrosine kinase gene DOID:2723 dermatitis ISO RGD:736160 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33782605 12172606 SYK spleen associated tyrosine kinase gene DOID:2843 long QT syndrome ISO RGD:736160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12172606 SYK spleen associated tyrosine kinase gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:3796 D RGD:9068941 20200609 RGD PMID:21894146|REF_RGD_ID:6218988 12172606 SYK spleen associated tyrosine kinase gene DOID:630 genetic disease ISO RGD:736160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12172606 SYK spleen associated tyrosine kinase gene DOID:848 arthritis ISO RGD:736160 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33782605 12172606 SYK spleen associated tyrosine kinase gene DOID:9003566 Mesothelioma ISO RGD:736160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659810 12172606 SYK spleen associated tyrosine kinase gene DOID:9004738 Immunodeficiency 82 ISO RGD:736160 D RGD:7240710 20210707 OMIM 12172606 SYK spleen associated tyrosine kinase gene DOID:9004738 Immunodeficiency 82 ISO RGD:736160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 82 with systemic inflammation PMID:25741868|PMID:28492532|PMID:33782605 12172627 DKC1 dyskerin pseudouridine synthase 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349510 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12172627 DKC1 dyskerin pseudouridine synthase 1 gene DOID:0050476 Barth syndrome ISO RGD:1349510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12172627 DKC1 dyskerin pseudouridine synthase 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1349510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12172627 DKC1 dyskerin pseudouridine synthase 1 gene DOID:0070025 X-linked dyskeratosis congenita ISO RGD:1349510 D RGD:7240710 20180502 OMIM 12172627 DKC1 dyskerin pseudouridine synthase 1 gene DOID:0070025 X-linked dyskeratosis congenita ISO RGD:1349510 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, X-linked PMID:10364516|PMID:10438713|PMID:10583221|PMID:10700698|PMID:11054058|PMID:11379875|PMID:11491307|PMID:11522545|PMID:11641517|PMID:12137939|PMID:12437656|PMID:1361371|PMID:14648217|PMID:15304085|PMID:15842668|PMID:16332973|PMID:18627054|PMID:19003239|PMID:19391112|PMID:19633571|PMID:19734544|PMID:19835419|PMID:19879169|PMID:20008900|PMID:20091372|PMID:20301779|PMID:21601430|PMID:21602826|PMID:21931702|PMID:22058290|PMID:22117216|PMID:22664374|PMID:23279657|PMID:23660516|PMID:23707062|PMID:23946118|PMID:24033266|PMID:24115260|PMID:24914498|PMID:25326635|PMID:25741868|PMID:25992652|PMID:26571381|PMID:27418648|PMID:27622320|PMID:28492532|PMID:29483670|PMID:29625052|PMID:29921932|PMID:3009302|PMID:31027506|PMID:31268371|PMID:31474318|PMID:32126783|PMID:7607282|PMID:9042917|PMID:9590285 12172627 DKC1 dyskerin pseudouridine synthase 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1349510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:21931702|PMID:25741868|PMID:31474318 12172627 DKC1 dyskerin pseudouridine synthase 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1349510 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12172627 DKC1 dyskerin pseudouridine synthase 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1349510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12172627 DKC1 dyskerin pseudouridine synthase 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12172627 DKC1 dyskerin pseudouridine synthase 1 gene DOID:12449 aplastic anemia ISO RGD:1349510 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:p.V105G, p.S121A (human) PMID:26360549|REF_RGD_ID:11251733 12172627 DKC1 dyskerin pseudouridine synthase 1 gene DOID:12849 autistic disorder ISO RGD:1349510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12172627 DKC1 dyskerin pseudouridine synthase 1 gene DOID:13628 favism ISO RGD:1349510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12172627 DKC1 dyskerin pseudouridine synthase 1 gene DOID:14566 disease of cellular proliferation ISO RGD:1615626 D RGD:9068941 20200609 RGD PMID:12522253|REF_RGD_ID:11251731 12172627 DKC1 dyskerin pseudouridine synthase 1 gene DOID:2355 anemia ISO RGD:1615626 D RGD:9068941 20200609 RGD PMID:12522253|REF_RGD_ID:11251731 12172627 DKC1 dyskerin pseudouridine synthase 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1349510 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:10364516|PMID:10583221|PMID:10700698|PMID:11054058|PMID:11379875|PMID:11491307|PMID:11522545|PMID:11641517|PMID:12137939|PMID:14648217|PMID:15304085|PMID:15842668|PMID:16332973|PMID:17576681|PMID:18177777|PMID:19003239|PMID:19391112|PMID:19633571|PMID:19734544|PMID:19835419|PMID:19879169|PMID:20008900|PMID:20091372|PMID:20301779|PMID:21601430|PMID:21602826|PMID:22058290|PMID:22117216|PMID:22664374|PMID:23279657|PMID:23660516|PMID:23707062|PMID:24033266|PMID:24115260|PMID:24914498|PMID:25326635|PMID:25455995|PMID:25741868|PMID:25992652|PMID:26571381|PMID:27418648|PMID:27622320|PMID:28492532|PMID:29625052|PMID:29921932|PMID:31027506|PMID:31268371|PMID:32126783|PMID:7607282|PMID:9536098|PMID:9590285 12172627 DKC1 dyskerin pseudouridine synthase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1349510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis 12172627 DKC1 dyskerin pseudouridine synthase 1 gene DOID:607 paraplegia ISO RGD:1349510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12172627 DKC1 dyskerin pseudouridine synthase 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1349510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12172627 DKC1 dyskerin pseudouridine synthase 1 gene DOID:614 lymphopenia ISO RGD:1615626 D RGD:9068941 20200609 RGD PMID:12522253|REF_RGD_ID:11251731 12172627 DKC1 dyskerin pseudouridine synthase 1 gene DOID:630 genetic disease ISO RGD:1349510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12172627 DKC1 dyskerin pseudouridine synthase 1 gene DOID:9001272 Hoyeraal Hreidarsson Syndrome ISO RGD:1349510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome PMID:10583221|PMID:12437656|PMID:19734544|PMID:20301779|PMID:28492532|PMID:31027506|PMID:7607282 12172627 DKC1 dyskerin pseudouridine synthase 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1349510 D RGD:9068941 20200609 RGD PMID:18077792|REF_RGD_ID:11251735 12172627 DKC1 dyskerin pseudouridine synthase 1 gene DOID:9002720 Splenomegaly ISO RGD:1349510 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12172646 KCNK4 potassium two pore domain channel subfamily K member 4 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:733987 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12172646 KCNK4 potassium two pore domain channel subfamily K member 4 gene DOID:1059 intellectual disability ISO RGD:733987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12172646 KCNK4 potassium two pore domain channel subfamily K member 4 gene DOID:1826 epilepsy ISO RGD:733987 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:30290154 12172646 KCNK4 potassium two pore domain channel subfamily K member 4 gene DOID:3070 high grade glioma ISO RGD:733987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12172646 KCNK4 potassium two pore domain channel subfamily K member 4 gene DOID:630 genetic disease ISO RGD:733987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12172646 KCNK4 potassium two pore domain channel subfamily K member 4 gene DOID:9006075 Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome ISO RGD:733987 D RGD:7240710 20190424 OMIM 12172646 KCNK4 potassium two pore domain channel subfamily K member 4 gene DOID:9006075 Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome ISO RGD:733987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome PMID:25741868|PMID:28492532|PMID:30290154 12172680 MTMR12 myotubularin related protein 12 gene DOID:630 genetic disease ISO RGD:1317364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12172680 MTMR12 myotubularin related protein 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12172701 BTG1 BTG anti-proliferation factor 1 gene DOID:11801 protein-energy malnutrition ISO RGD:2224 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11952159|REF_RGD_ID:631316 12172701 BTG1 BTG anti-proliferation factor 1 gene DOID:5419 schizophrenia ISO RGD:736072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16223876 12172701 BTG1 BTG anti-proliferation factor 1 gene DOID:630 genetic disease ISO RGD:736072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12172701 BTG1 BTG anti-proliferation factor 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:736072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12172701 BTG1 BTG anti-proliferation factor 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:736072 D RGD:9068941 20200609 RGD PMID:15449376|REF_RGD_ID:1549463 12172701 BTG1 BTG anti-proliferation factor 1 gene DOID:9538 multiple myeloma ISO RGD:736072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16918137 12172707 DPH7 diphthamide biosynthesis 7 gene DOID:0050777 Joubert syndrome ISO RGD:1312556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12172707 DPH7 diphthamide biosynthesis 7 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1312556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12172707 DPH7 diphthamide biosynthesis 7 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1312556 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12172707 DPH7 diphthamide biosynthesis 7 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1312556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12172707 DPH7 diphthamide biosynthesis 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1312556 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12172707 DPH7 diphthamide biosynthesis 7 gene DOID:0081097 Rafiq syndrome ISO RGD:1312556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12172707 DPH7 diphthamide biosynthesis 7 gene DOID:10283 prostate cancer ISO RGD:1312556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12172707 DPH7 diphthamide biosynthesis 7 gene DOID:1826 epilepsy ISO RGD:1312556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12172707 DPH7 diphthamide biosynthesis 7 gene DOID:630 genetic disease ISO RGD:1312556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12172707 DPH7 diphthamide biosynthesis 7 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1312556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12172719 LOC100855904 mucin-6 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12172719 LOC100855904 mucin-6 gene DOID:0080773 delta beta-thalassemia ISO RGD:1353445 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12172719 LOC100855904 mucin-6 gene DOID:0111969 immunodeficiency 39 ISO RGD:1353445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12172719 LOC100855904 mucin-6 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12172719 LOC100855904 mucin-6 gene DOID:10283 prostate cancer ISO RGD:1353445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12172719 LOC100855904 mucin-6 gene DOID:10808 gastric ulcer treatment ISO RGD:628826 D RGD:9068941 20210114 RGD PMID:16240224|REF_RGD_ID:7364759 12172719 LOC100855904 mucin-6 gene DOID:1324 lung cancer ISO RGD:1353445 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12172719 LOC100855904 mucin-6 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1353445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12172719 LOC100855904 mucin-6 gene DOID:1485 cystic fibrosis ISO RGD:10331 D RGD:9068941 20210114 RGD PMID:20309575|REF_RGD_ID:7364748 12172719 LOC100855904 mucin-6 gene DOID:1793 pancreatic cancer ISO RGD:1353445 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:10209489|REF_RGD_ID:2325167 12172719 LOC100855904 mucin-6 gene DOID:3030 mucinous adenocarcinoma ISO RGD:1353445 D RGD:9068941 20200609 RGD associated with bile duct neoplasms; protein:increased expression:bile duct PMID:15998373|REF_RGD_ID:2325166 12172719 LOC100855904 mucin-6 gene DOID:4947 cholangiocarcinoma ISO RGD:1353445 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:10209489|REF_RGD_ID:2325167 12172719 LOC100855904 mucin-6 gene DOID:5409 lung small cell carcinoma ISO RGD:1353445 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 12172719 LOC100855904 mucin-6 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:1353445 D RGD:9068941 20200609 RGD protein:decreased expression:gallbladder PMID:15260848|REF_RGD_ID:2324651 12172719 LOC100855904 mucin-6 gene DOID:9000217 Stomach Neoplasms ISO RGD:1353445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24816253 12172719 LOC100855904 mucin-6 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1353445 D RGD:9068941 20200609 RGD associated with cholangiocarcinoma PMID:18410610|REF_RGD_ID:2325159 12172719 LOC100855904 mucin-6 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1353445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12172719 LOC100855904 mucin-6 gene DOID:9008114 Helicobacter Infections ISO RGD:1353445 D RGD:9068941 20200609 RGD protein:increased expression:stomach epithelium PMID:15280409|REF_RGD_ID:7364760 12172787 C15H4orf51 chromosome 15 C4orf51 homolog gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:2974931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 12172787 C15H4orf51 chromosome 15 C4orf51 homolog gene DOID:630 genetic disease ISO RGD:2974931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12172797 TLR2 toll like receptor 2 gene DOID:0050073 invasive aspergillosis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:16113258|REF_RGD_ID:8553022 12172797 TLR2 toll like receptor 2 gene DOID:0050127 sinusitis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium: PMID:14743629|REF_RGD_ID:8552991 12172797 TLR2 toll like receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15505089 12172797 TLR2 toll like receptor 2 gene DOID:0050855 renal fibrosis ISO RGD:735138 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:22777483|REF_RGD_ID:7207895 12172797 TLR2 toll like receptor 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28963909 12172797 TLR2 toll like receptor 2 gene DOID:0060189 ileitis ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:18266231|REF_RGD_ID:2312714 12172797 TLR2 toll like receptor 2 gene DOID:0060224 atrial fibrillation ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:monocyte: PMID:19167648|REF_RGD_ID:8552974 12172797 TLR2 toll like receptor 2 gene DOID:0060322 mastoiditis ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: PMID:24690988|REF_RGD_ID:8552995 12172797 TLR2 toll like receptor 2 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:17686871|REF_RGD_ID:7794851 12172797 TLR2 toll like receptor 2 gene DOID:0080176 meningococcal meningitis susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:haplotype: :2477G>A(rs5743708)(human) PMID:23691182|REF_RGD_ID:7800668 12172797 TLR2 toll like receptor 2 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:29482933|REF_RGD_ID:15090806 12172797 TLR2 toll like receptor 2 gene DOID:0080784 urinary tract infection susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R753Q (human) PMID:18001294|REF_RGD_ID:7240561 12172797 TLR2 toll like receptor 2 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:735138 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:16524509|REF_RGD_ID:2312724 12172797 TLR2 toll like receptor 2 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1353654 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Turcot syndrome PMID:25741868 12172797 TLR2 toll like receptor 2 gene DOID:10140 dry eye syndrome ISO RGD:1353654 D RGD:9068941 20200609 RGD associated with Graft vs Host Disease;mRNA:increased expression:peripheral blood cell: PMID:22025895|REF_RGD_ID:8552821 12172797 TLR2 toll like receptor 2 gene DOID:10140 dry eye syndrome ISO RGD:1551003 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cornea,conjunctiva,lacrimal gland: PMID:23372055|REF_RGD_ID:8552916 12172797 TLR2 toll like receptor 2 gene DOID:10223 dermatomyositis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:muscle PMID:19953283|REF_RGD_ID:7794747 12172797 TLR2 toll like receptor 2 gene DOID:1024 leprosy ISO RGD:1353654 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 3 PMID:11476982|PMID:12646604|PMID:15726416|PMID:19111445|PMID:25741868|PMID:28492532 12172797 TLR2 toll like receptor 2 gene DOID:1024 leprosy susceptibility ISO RGD:1353654 D RGD:7240710 20190502 OMIM 12172797 TLR2 toll like receptor 2 gene DOID:10283 prostate cancer susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:deletion:promoter:−196_−174del (human) PMID:22311043|REF_RGD_ID:7207899 12172797 TLR2 toll like receptor 2 gene DOID:1074 kidney failure ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:16177646|REF_RGD_ID:7241085 12172797 TLR2 toll like receptor 2 gene DOID:10754 otitis media ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:middle ear: PMID:23380629|REF_RGD_ID:7800666 12172797 TLR2 toll like receptor 2 gene DOID:10754 otitis media ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: PMID:24690988|REF_RGD_ID:8552995 12172797 TLR2 toll like receptor 2 gene DOID:10754 otitis media ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Haemophilus Infections; PMID:19586996|REF_RGD_ID:7777086 12172797 TLR2 toll like receptor 2 gene DOID:10754 otitis media ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections; PMID:19414550|REF_RGD_ID:8552783 12172797 TLR2 toll like receptor 2 gene DOID:10825 essential hypertension ISO RGD:1353654 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 12172797 TLR2 toll like receptor 2 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell: PMID:23946637|REF_RGD_ID:8552827 12172797 TLR2 toll like receptor 2 gene DOID:10964 cholesteatoma of middle ear ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: PMID:24690988|REF_RGD_ID:8552995 12172797 TLR2 toll like receptor 2 gene DOID:11054 urinary bladder cancer ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:deletion:promoter:−196_−174del (human) PMID:23142523|REF_RGD_ID:7207893 12172797 TLR2 toll like receptor 2 gene DOID:11168 anogenital venereal wart ISO RGD:1353654 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 12172797 TLR2 toll like receptor 2 gene DOID:11204 allergic conjunctivitis ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Staphylococcal Infections; PMID:19358332|REF_RGD_ID:8552826 12172797 TLR2 toll like receptor 2 gene DOID:11339 pneumocystosis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:18400546|REF_RGD_ID:4145341 12172797 TLR2 toll like receptor 2 gene DOID:11506 suppurative otitis media ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:mucosa: PMID:22883581|REF_RGD_ID:7800662 12172797 TLR2 toll like receptor 2 gene DOID:12148 alveolar echinococcosis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:increased expression:PBMC PMID:30141853|REF_RGD_ID:15090814 12172797 TLR2 toll like receptor 2 gene DOID:12306 vitiligo susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.R753Q(human) PMID:22429552|REF_RGD_ID:7777152 12172797 TLR2 toll like receptor 2 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:19019963|REF_RGD_ID:4889534 12172797 TLR2 toll like receptor 2 gene DOID:13001 carotid stenosis treatment ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:22167462|REF_RGD_ID:7241095 12172797 TLR2 toll like receptor 2 gene DOID:13078 eumycotic mycetoma ISO RGD:1551003 D RGD:9068941 20200609 RGD mRNA:increased expression:footpad: PMID:21205004|REF_RGD_ID:7794752 12172797 TLR2 toll like receptor 2 gene DOID:13241 Behcet's disease ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:increased expression:intestine: PMID:18336589|REF_RGD_ID:8552915 12172797 TLR2 toll like receptor 2 gene DOID:13241 Behcet's disease ISO RGD:1353654 D RGD:9068941 20200609 RGD protein,mRNA:increased expression:peripheral blood mononuclear cell PMID:23908180|REF_RGD_ID:8552883 12172797 TLR2 toll like receptor 2 gene DOID:13241 Behcet's disease no_association ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism: :12408G>A(human) PMID:19796535|REF_RGD_ID:8552888 12172797 TLR2 toll like receptor 2 gene DOID:13241 Behcet's disease susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNPs: : rs2289318,rs3804099(human) PMID:24255044|REF_RGD_ID:8552885 12172797 TLR2 toll like receptor 2 gene DOID:13258 typhoid fever ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:25667264|REF_RGD_ID:11061268 12172797 TLR2 toll like receptor 2 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:decreased expression:alveolar macrophage PMID:20813038|REF_RGD_ID:4145301 12172797 TLR2 toll like receptor 2 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:23668840|REF_RGD_ID:8553184 12172797 TLR2 toll like receptor 2 gene DOID:13564 aspergillosis ISO RGD:1551003 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19781388|REF_RGD_ID:4145322 12172797 TLR2 toll like receptor 2 gene DOID:13580 cholestasis ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12172797 TLR2 toll like receptor 2 gene DOID:13603 obstructive jaundice treatment ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:29366780|REF_RGD_ID:15090858 12172797 TLR2 toll like receptor 2 gene DOID:13767 clonorchiasis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:28784165|REF_RGD_ID:15090810 12172797 TLR2 toll like receptor 2 gene DOID:1407 anterior uveitis ISO RGD:1353654 D RGD:9068941 20200609 RGD PMID:17389503|REF_RGD_ID:8552823 12172797 TLR2 toll like receptor 2 gene DOID:14221 abdominal obesity-metabolic syndrome 1 susceptibility ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:19841034|REF_RGD_ID:15090861 12172797 TLR2 toll like receptor 2 gene DOID:1495 cystic echinococcosis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood monocyte: PMID:21923667|REF_RGD_ID:18182935 12172797 TLR2 toll like receptor 2 gene DOID:1495 cystic echinococcosis disease_progression ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:mutation:cds:Arg753Gln(human) PMID:31437685|REF_RGD_ID:15090825 12172797 TLR2 toll like receptor 2 gene DOID:1580 diffuse scleroderma disease_progression ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.P631H(rs5743704)(human) PMID:21905008|REF_RGD_ID:8553044 12172797 TLR2 toll like receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:deletion:promotor:-196_-174del(human) PMID:22560646|REF_RGD_ID:7794753 12172797 TLR2 toll like receptor 2 gene DOID:1936 atherosclerosis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:17466307|REF_RGD_ID:8552973 12172797 TLR2 toll like receptor 2 gene DOID:2043 hepatitis B treatment ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:30008718|REF_RGD_ID:15090859 12172797 TLR2 toll like receptor 2 gene DOID:2297 leptospirosis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:19635914|REF_RGD_ID:7240557 12172797 TLR2 toll like receptor 2 gene DOID:2841 asthma ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNP: :rs3804100 (human) PMID:19148143|REF_RGD_ID:2312679 12172797 TLR2 toll like receptor 2 gene DOID:2841 asthma ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:18202345|PMID:18787777|REF_RGD_ID:4145334|REF_RGD_ID:4145343 12172797 TLR2 toll like receptor 2 gene DOID:2841 asthma severity ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R753Q(human) PMID:22402138|REF_RGD_ID:7800732 12172797 TLR2 toll like receptor 2 gene DOID:2841 asthma susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNP: :596T>C (human) PMID:19096003|REF_RGD_ID:4144228 12172797 TLR2 toll like receptor 2 gene DOID:2841 asthma susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNP: :rs4696480 (human) PMID:20685742|REF_RGD_ID:4144171 12172797 TLR2 toll like receptor 2 gene DOID:2841 asthma susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNP: :rs7656411 (human) PMID:20815312|REF_RGD_ID:4145352 12172797 TLR2 toll like receptor 2 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1551003 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (mouse) PMID:18256364|REF_RGD_ID:7246909 12172797 TLR2 toll like receptor 2 gene DOID:2921 glomerulonephritis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:16849506|REF_RGD_ID:7241071 12172797 TLR2 toll like receptor 2 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 12172797 TLR2 toll like receptor 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:20113509|REF_RGD_ID:4145320 12172797 TLR2 toll like receptor 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:blood, T cell PMID:19552525|REF_RGD_ID:4145355 12172797 TLR2 toll like receptor 2 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNP: :rs1816702 (human) PMID:19723394|REF_RGD_ID:4145323 12172797 TLR2 toll like receptor 2 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:20298136|REF_RGD_ID:4145304 12172797 TLR2 toll like receptor 2 gene DOID:3021 acute kidney failure ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29286200 12172797 TLR2 toll like receptor 2 gene DOID:3021 acute kidney failure ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Sepsis PMID:22655058|REF_RGD_ID:7207898 12172797 TLR2 toll like receptor 2 gene DOID:3178 skin papilloma ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression,altered expression:cytoplasm,membrane, nucleus: PMID:24617037|REF_RGD_ID:8553046 12172797 TLR2 toll like receptor 2 gene DOID:3310 atopic dermatitis ISO RGD:1353654 D RGD:9068941 20200609 RGD PMID:17531301|REF_RGD_ID:8552999 12172797 TLR2 toll like receptor 2 gene DOID:3310 atopic dermatitis severity ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism: :-16934A>T(human) PMID:19627277|REF_RGD_ID:8552997 12172797 TLR2 toll like receptor 2 gene DOID:3310 atopic dermatitis severity ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R753Q(human) PMID:22032785|REF_RGD_ID:8553048 12172797 TLR2 toll like receptor 2 gene DOID:3410 carotid artery thrombosis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:28572286|REF_RGD_ID:15090824 12172797 TLR2 toll like receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:20610040|REF_RGD_ID:4144177 12172797 TLR2 toll like receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Pneumonia PMID:19109203|REF_RGD_ID:4145324 12172797 TLR2 toll like receptor 2 gene DOID:399 tuberculosis ISO RGD:1353654 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:14979495|PMID:16081826|PMID:22992740 12172797 TLR2 toll like receptor 2 gene DOID:399 tuberculosis susceptibility ISO RGD:1353654 D RGD:7240710 20190502 OMIM 12172797 TLR2 toll like receptor 2 gene DOID:4481 allergic rhinitis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:decreased expression:nasal mucosa: PMID:18219831|REF_RGD_ID:7800742 12172797 TLR2 toll like receptor 2 gene DOID:4481 allergic rhinitis ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:neutrophil: PMID:22555057|REF_RGD_ID:8552993 12172797 TLR2 toll like receptor 2 gene DOID:4481 allergic rhinitis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:18381801|REF_RGD_ID:8552972 12172797 TLR2 toll like receptor 2 gene DOID:4481 allergic rhinitis severity ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R753Q(human) PMID:22402138|REF_RGD_ID:7800732 12172797 TLR2 toll like receptor 2 gene DOID:4483 rhinitis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:decreased expression:nasal mucosa: PMID:18219831|REF_RGD_ID:7800742 12172797 TLR2 toll like receptor 2 gene DOID:4483 rhinitis no_association ISO RGD:1353654 D RGD:9068941 20200609 RGD associated with Sinusitis;DNA:SNPs: :multiple (human) PMID:19128592|REF_RGD_ID:4145356 12172797 TLR2 toll like receptor 2 gene DOID:4483 rhinitis susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNPs: :597T>C, 1350T>C (human) PMID:19763595|REF_RGD_ID:4145354 12172797 TLR2 toll like receptor 2 gene DOID:4677 keratitis ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23661603 12172797 TLR2 toll like receptor 2 gene DOID:4677 keratitis ISO RGD:1353654 D RGD:9068941 20200609 RGD associated with Eye Infections, Fungal;mRNA,protein:increased expression:cornea: PMID:18398706|REF_RGD_ID:8552914 12172797 TLR2 toll like receptor 2 gene DOID:4677 keratitis ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Onchocerciasis, Ocular; PMID:17875630|REF_RGD_ID:7794840 12172797 TLR2 toll like receptor 2 gene DOID:4677 keratitis treatment ISO RGD:735138 D RGD:9068941 20200609 RGD associated with Aspergillosis: PMID:21647173|REF_RGD_ID:8552816 12172797 TLR2 toll like receptor 2 gene DOID:4692 endophthalmitis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:19995266|PMID:22163046|REF_RGD_ID:8552880|REF_RGD_ID:8553060 12172797 TLR2 toll like receptor 2 gene DOID:4989 pancreatitis ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:19260515|REF_RGD_ID:2312507 12172797 TLR2 toll like receptor 2 gene DOID:5082 liver cirrhosis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:24815695|REF_RGD_ID:15090811 12172797 TLR2 toll like receptor 2 gene DOID:552 pneumonia susceptibility ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:19011150|REF_RGD_ID:4145330 12172797 TLR2 toll like receptor 2 gene DOID:5614 eye disease ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:nasal cavity mucosa: PMID:16146574|REF_RGD_ID:8552913 12172797 TLR2 toll like receptor 2 gene DOID:6000 congestive heart failure ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29959987 12172797 TLR2 toll like receptor 2 gene DOID:630 genetic disease ISO RGD:1353654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12172797 TLR2 toll like receptor 2 gene DOID:6543 acne ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:skin: PMID:18241264|REF_RGD_ID:8553025 12172797 TLR2 toll like receptor 2 gene DOID:6543 acne severity ISO RGD:1353654 D RGD:9068941 20200609 RGD PMID:20726329|REF_RGD_ID:8553024 12172797 TLR2 toll like receptor 2 gene DOID:6543 acne susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R753Q(human) PMID:20861605|REF_RGD_ID:8553023 12172797 TLR2 toll like receptor 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:deletion:promoter:-196 to -174(human) PMID:27183918|REF_RGD_ID:15090815 12172797 TLR2 toll like receptor 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:deletion:promoter:-196 to -174(human) PMID:21500195|REF_RGD_ID:15090813 12172797 TLR2 toll like receptor 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:22859216|REF_RGD_ID:18337266 12172797 TLR2 toll like receptor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 12172797 TLR2 toll like receptor 2 gene DOID:783 end stage renal disease ISO RGD:1353654 D RGD:9068941 20200609 RGD PMID:20729266|REF_RGD_ID:7240546 12172797 TLR2 toll like receptor 2 gene DOID:7894 mite infestation ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29253318 12172797 TLR2 toll like receptor 2 gene DOID:850 lung disease ISO RGD:1353654 D RGD:9068941 20200609 RGD associated with Mycobacterium avium-intracellulare Infection;DNA:polymorphism:intron (human) PMID:18602432|REF_RGD_ID:4145340 12172797 TLR2 toll like receptor 2 gene DOID:850 lung disease ISO RGD:735138 D RGD:9068941 20200609 RGD Acute Lung Injury;mRNA:increased expression:lung PMID:20441697|REF_RGD_ID:4145303 12172797 TLR2 toll like receptor 2 gene DOID:850 lung disease ISO RGD:735138 D RGD:9068941 20200609 RGD associated with Hyperoxia;mRNA, protein:increased expression:lung PMID:19956717|REF_RGD_ID:4145321 12172797 TLR2 toll like receptor 2 gene DOID:850 lung disease ISO RGD:735138 D RGD:9068941 20200609 RGD associated with Pancreatitis, Acute Necrotizing PMID:16286274|REF_RGD_ID:2312725 12172797 TLR2 toll like receptor 2 gene DOID:8534 gastroesophageal reflux disease ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:decreased expression:sputum, macrophage PMID:21426732|REF_RGD_ID:7240539 12172797 TLR2 toll like receptor 2 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735138 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum PMID:19608731|REF_RGD_ID:5128779 12172797 TLR2 toll like receptor 2 gene DOID:869 cholesteatoma ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:mucosa: PMID:22883581|REF_RGD_ID:7800662 12172797 TLR2 toll like receptor 2 gene DOID:874 bacterial pneumonia ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:18768871|REF_RGD_ID:4145337 12172797 TLR2 toll like receptor 2 gene DOID:874 bacterial pneumonia ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:19844782|REF_RGD_ID:4889533 12172797 TLR2 toll like receptor 2 gene DOID:8741 seborrheic dermatitis treatment ISO RGD:1353654 D RGD:9068941 20200609 RGD PMID:21566548|REF_RGD_ID:8553045 12172797 TLR2 toll like receptor 2 gene DOID:8867 molluscum contagiosum ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression,altered expression:cytoplasm,membrane, nucleus: PMID:24617037|REF_RGD_ID:8553046 12172797 TLR2 toll like receptor 2 gene DOID:8893 psoriasis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell: PMID:23457721|REF_RGD_ID:7777173 12172797 TLR2 toll like receptor 2 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:1551003 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:12781911|REF_RGD_ID:7794740 12172797 TLR2 toll like receptor 2 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:1353654 D RGD:9068941 20200609 RGD associated with Plaque,Atherosclerotic;mRNA:increased expression:mononuclear cell: PMID:23457721|REF_RGD_ID:7777173 12172797 TLR2 toll like receptor 2 gene DOID:9000641 Pain ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:24204973|REF_RGD_ID:8553185 12172797 TLR2 toll like receptor 2 gene DOID:9000889 Escherichia Coli Meningitis ISO RGD:1551003 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:12781911|REF_RGD_ID:7794740 12172797 TLR2 toll like receptor 2 gene DOID:9000972 Fever ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:22042912|REF_RGD_ID:7241096 12172797 TLR2 toll like receptor 2 gene DOID:9000998 Brain Injuries ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 12172797 TLR2 toll like receptor 2 gene DOID:9000998 Brain Injuries ISO RGD:735138 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:18316784|REF_RGD_ID:2312713 12172797 TLR2 toll like receptor 2 gene DOID:9001004 Chronic Periodontitis severity ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:gingiva: PMID:21848608|REF_RGD_ID:7794852 12172797 TLR2 toll like receptor 2 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Chlamydophila Infections; PMID:20393111|REF_RGD_ID:8552825 12172797 TLR2 toll like receptor 2 gene DOID:9001371 Eosinophilia ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26882889 12172797 TLR2 toll like receptor 2 gene DOID:9001472 Nasal Polyps ISO RGD:1353654 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;mRNA:increased expression:inferior nasal concha: PMID:15836755|REF_RGD_ID:8552992 12172797 TLR2 toll like receptor 2 gene DOID:9001488 Human Influenza ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:18657324|REF_RGD_ID:4145339 12172797 TLR2 toll like receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:27601294|REF_RGD_ID:18182936 12172797 TLR2 toll like receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:22683883|REF_RGD_ID:7241092 12172797 TLR2 toll like receptor 2 gene DOID:9001949 Fungal Eye Infections ISO RGD:735138 D RGD:9068941 20200609 RGD mRNA:increased expression:cornea PMID:19474209|REF_RGD_ID:2312502 12172797 TLR2 toll like receptor 2 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:19956717|REF_RGD_ID:4145321 12172797 TLR2 toll like receptor 2 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:16038046|REF_RGD_ID:15090805 12172797 TLR2 toll like receptor 2 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:25769561|REF_RGD_ID:15090809 12172797 TLR2 toll like receptor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21617141|REF_RGD_ID:7241083 12172797 TLR2 toll like receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:17355971|REF_RGD_ID:8553059 12172797 TLR2 toll like receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:24204973|REF_RGD_ID:8553185 12172797 TLR2 toll like receptor 2 gene DOID:9002371 Cardiotoxicity ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29959987 12172797 TLR2 toll like receptor 2 gene DOID:9002457 Experimental Arthritis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:20131263|REF_RGD_ID:8552884 12172797 TLR2 toll like receptor 2 gene DOID:9002457 Experimental Arthritis ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:21725847|REF_RGD_ID:7241099 12172797 TLR2 toll like receptor 2 gene DOID:9002498 Wallerian Degeneration ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:18003835|REF_RGD_ID:2312723 12172797 TLR2 toll like receptor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:735138 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:18644848|REF_RGD_ID:2312575 12172797 TLR2 toll like receptor 2 gene DOID:9002823 Gram-Positive Bacterial Infections ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:18354210|REF_RGD_ID:7240560 12172797 TLR2 toll like receptor 2 gene DOID:9003036 Oral Lichen Planus ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:monocyte,buccal mucosa: PMID:21544941|REF_RGD_ID:8553047 12172797 TLR2 toll like receptor 2 gene DOID:9003321 Bacterial Keratitis ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections; PMID:23841825|REF_RGD_ID:8552886 12172797 TLR2 toll like receptor 2 gene DOID:9003321 Bacterial Keratitis ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Staphylococcal Infections; PMID:16926427|REF_RGD_ID:8552819 12172797 TLR2 toll like receptor 2 gene DOID:9003370 Dyslipidemias ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:23295061|REF_RGD_ID:7241091 12172797 TLR2 toll like receptor 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:28139935|REF_RGD_ID:15090829 12172797 TLR2 toll like receptor 2 gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:21190299|REF_RGD_ID:7240543 12172797 TLR2 toll like receptor 2 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:20806060|REF_RGD_ID:5130178 12172797 TLR2 toll like receptor 2 gene DOID:9003870 Herpes Simplex Encephalitis disease_progression ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:14739339|REF_RGD_ID:8553026 12172797 TLR2 toll like receptor 2 gene DOID:9004009 Reperfusion Injury ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25780291 12172797 TLR2 toll like receptor 2 gene DOID:9004009 Reperfusion Injury ISO RGD:735138 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:15912106|REF_RGD_ID:2312727 12172797 TLR2 toll like receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:1353654 D RGD:9068941 20200609 RGD kidney PMID:20628182|REF_RGD_ID:7240551 12172797 TLR2 toll like receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:1353654 D RGD:9068941 20200609 RGD liver;DNA:SNP: :p.R753Q (human) PMID:20090572|REF_RGD_ID:7240554 12172797 TLR2 toll like receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:20038715|PMID:22042224|REF_RGD_ID:7207901|REF_RGD_ID:7240555 12172797 TLR2 toll like receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:735138 D RGD:9068941 20200609 RGD kidney PMID:20628182|REF_RGD_ID:7240551 12172797 TLR2 toll like receptor 2 gene DOID:9004484 Sepsis ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:14604479|REF_RGD_ID:2312732 12172797 TLR2 toll like receptor 2 gene DOID:9004484 Sepsis ISO RGD:735138 D RGD:9068941 20200609 RGD associated with Burns;mRNA:increased expression:liver, lung, kidney PMID:12831613|REF_RGD_ID:1302750 12172797 TLR2 toll like receptor 2 gene DOID:9004484 Sepsis ISO RGD:735138 D RGD:9068941 20200609 RGD associated with Liver Diseases;mRNA:increased expression:liver PMID:19489280|REF_RGD_ID:2312497 12172797 TLR2 toll like receptor 2 gene DOID:9004538 Hearing Loss susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD associated with Meningitis,Bacterial; DNA:haplotype: :2477G>A(rs5743708)(human) PMID:22662111|REF_RGD_ID:7800663 12172797 TLR2 toll like receptor 2 gene DOID:9005372 Inflammation ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22178603 12172797 TLR2 toll like receptor 2 gene DOID:9005372 Inflammation ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Respiratory Hypersensitivity PMID:20016195|REF_RGD_ID:4889537 12172797 TLR2 toll like receptor 2 gene DOID:9005372 Inflammation ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:19479087|REF_RGD_ID:7240558 12172797 TLR2 toll like receptor 2 gene DOID:9005372 Inflammation ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:16154916|REF_RGD_ID:4889539 12172797 TLR2 toll like receptor 2 gene DOID:9005473 Bacterial Eye Infections ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23661603 12172797 TLR2 toll like receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:17707128|REF_RGD_ID:2312684 12172797 TLR2 toll like receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:16740310|REF_RGD_ID:2312491 12172797 TLR2 toll like receptor 2 gene DOID:9005930 Endotoxemia treatment ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:22172266|REF_RGD_ID:7241094 12172797 TLR2 toll like receptor 2 gene DOID:9005941 Rhinosinusitis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:paranasal sinus PMID:22182736|REF_RGD_ID:7800733 12172797 TLR2 toll like receptor 2 gene DOID:9005941 Rhinosinusitis susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphisms:: rs3804099,rs3804100(human) PMID:21493395|REF_RGD_ID:8552975 12172797 TLR2 toll like receptor 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:11801667|PMID:20130923|REF_RGD_ID:7240552|REF_RGD_ID:7241087 12172797 TLR2 toll like receptor 2 gene DOID:9006223 Kidney Reperfusion Injury severity ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:22750071|REF_RGD_ID:7207896 12172797 TLR2 toll like receptor 2 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:23023072|REF_RGD_ID:7207894 12172797 TLR2 toll like receptor 2 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:23239000|REF_RGD_ID:7207892 12172797 TLR2 toll like receptor 2 gene DOID:9006647 Experimental Autoimmune Neuritis severity ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:19162137|REF_RGD_ID:2312712 12172797 TLR2 toll like receptor 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1353654 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:18466103|PMID:31557154 12172797 TLR2 toll like receptor 2 gene DOID:9006844 Streptococcal Infections severity ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:19179417|REF_RGD_ID:7240559 12172797 TLR2 toll like receptor 2 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cornea: PMID:20012880|REF_RGD_ID:8552969 12172797 TLR2 toll like receptor 2 gene DOID:9007073 Cough ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:decreased expression:sputum, macrophage PMID:21426732|REF_RGD_ID:7240539 12172797 TLR2 toll like receptor 2 gene DOID:9007389 Acute Tubulointerstitial Nephritis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:22194975|REF_RGD_ID:7207900 12172797 TLR2 toll like receptor 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:19274437|REF_RGD_ID:2312688 12172797 TLR2 toll like receptor 2 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:28414577|REF_RGD_ID:15090812 12172797 TLR2 toll like receptor 2 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:1353654 D RGD:9068941 20200609 RGD PMID:25337250|REF_RGD_ID:15090826 12172797 TLR2 toll like receptor 2 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1353654 D RGD:9068941 20200609 RGD PMID:25771704|REF_RGD_ID:15090828 12172797 TLR2 toll like receptor 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16879199|PMID:17892325 12172797 TLR2 toll like receptor 2 gene DOID:9008520 Chronic Pain ISO RGD:1353654 D RGD:9068941 20200609 RGD PMID:24204973|REF_RGD_ID:8553185 12172797 TLR2 toll like receptor 2 gene DOID:9008595 Brain Abscess ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:16239543|REF_RGD_ID:8552881 12172797 TLR2 toll like receptor 2 gene DOID:9008821 Otitis Media with Effusion ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:22336013|REF_RGD_ID:7364764 12172797 TLR2 toll like receptor 2 gene DOID:9008885 Staphylococcal Infections ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23661603 12172797 TLR2 toll like receptor 2 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:decreased expression:skin: PMID:20493664|REF_RGD_ID:7794748 12172797 TLR2 toll like receptor 2 gene DOID:9146 visceral leishmaniasis disease_progression ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:23589575|REF_RGD_ID:15090808 12172797 TLR2 toll like receptor 2 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1353654 D RGD:7240710 20230505 OMIM 12172797 TLR2 toll like receptor 2 gene DOID:9368 keratoconjunctivitis ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:conjnctival epithelium: PMID:15875531|REF_RGD_ID:8552813 12172797 TLR2 toll like receptor 2 gene DOID:9446 cholangitis disease_progression ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:30340822|REF_RGD_ID:15090860 12172797 TLR2 toll like receptor 2 gene DOID:9675 pulmonary emphysema ISO RGD:1551003 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage PMID:18399852|REF_RGD_ID:4145342 12172797 TLR2 toll like receptor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNP: :1350T>C (human) PMID:15699513|REF_RGD_ID:2312686 12172797 TLR2 toll like receptor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNP: :rs3804100 (human) PMID:19148143|REF_RGD_ID:2312679 12172797 TLR2 toll like receptor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:18029454|REF_RGD_ID:2312683 12172797 TLR2 toll like receptor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:17707128|REF_RGD_ID:2312684 12172797 TLR2 toll like receptor 2 gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNP: :1350T>C (human) PMID:17130564|REF_RGD_ID:2312687 12172797 TLR2 toll like receptor 2 gene DOID:9970 obesity ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:18787058|REF_RGD_ID:2312681 12172797 Tlr2 toll-like receptor 2 gene DOID:11446 sciatic neuropathy ISO RGD:1551003 D RGD:9068941 20200609 RGD mRNA:increased expression:sciatic nerve: PMID:21125644|REF_RGD_ID:8553062 12172807 SLC39A13 solute carrier family 39 member 13 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1312289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12172807 SLC39A13 solute carrier family 39 member 13 gene DOID:0080001 bone disease ISO RGD:1312289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228435 12172807 SLC39A13 solute carrier family 39 member 13 gene DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 ISO RGD:1312289 D RGD:7240710 20180130 OMIM 12172807 SLC39A13 solute carrier family 39 member 13 gene DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 ISO RGD:1312289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 | ClinVar Annotator: match by term: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like PMID:17576681|PMID:18513683|PMID:18985159|PMID:24033266|PMID:25007800|PMID:25741868|PMID:28492532|PMID:9536098 12172807 SLC39A13 solute carrier family 39 member 13 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1312289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 12172807 SLC39A13 solute carrier family 39 member 13 gene DOID:1059 intellectual disability ISO RGD:1312289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12172807 SLC39A13 solute carrier family 39 member 13 gene DOID:11830 myopia ISO RGD:1312289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868|PMID:28492532 12172807 SLC39A13 solute carrier family 39 member 13 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1312289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12172807 SLC39A13 solute carrier family 39 member 13 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1312289 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532 12172807 SLC39A13 solute carrier family 39 member 13 gene DOID:3144 cutis laxa ISO RGD:1312289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:25741868|PMID:28492532 12172807 SLC39A13 solute carrier family 39 member 13 gene DOID:419 scleroderma ISO RGD:1312289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scleroderma PMID:25741868|PMID:28492532 12172807 SLC39A13 solute carrier family 39 member 13 gene DOID:630 genetic disease ISO RGD:1312289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12172807 SLC39A13 solute carrier family 39 member 13 gene DOID:65 connective tissue disease ISO RGD:1312289 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 12172807 SLC39A13 solute carrier family 39 member 13 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1304695 D RGD:9068941 20200609 RGD protein:increased expression:liver, endoplasmic reticulum (rat) PMID:25767260|REF_RGD_ID:11553884 12172807 SLC39A13 solute carrier family 39 member 13 gene DOID:9003358 Kyphosis ISO RGD:1312289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18985159 12172807 SLC39A13 solute carrier family 39 member 13 gene DOID:9003921 Zinc Deficiency ISO RGD:1304695 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, kidney (rat) PMID:20859692|REF_RGD_ID:11553849 12172807 SLC39A13 solute carrier family 39 member 13 gene DOID:9009007 Tooth Abnormalities ISO RGD:1312289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18985159|PMID:22228435 12172807 SLC39A13 solute carrier family 39 member 13 gene DOID:988 mitral valve prolapse ISO RGD:1312289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitral valve prolapse PMID:25741868|PMID:28492532 12172837 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:0050427 xeroderma pigmentosum ISO RGD:1313986 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:10766188|PMID:11511294|PMID:15654957|PMID:16081512|PMID:16550608|PMID:17079196|PMID:17084680|PMID:18414213|PMID:18809580|PMID:18955168|PMID:19609301|PMID:20054342|PMID:21273643|PMID:21482201|PMID:23173980|PMID:23278166|PMID:23400628|PMID:24218596|PMID:24728327|PMID:25256075|PMID:25525159|PMID:25566891|PMID:25741868|PMID:26884178|PMID:27153395|PMID:27387384|PMID:28492532|PMID:28615033|PMID:29178624|PMID:29330851|PMID:29569758|PMID:29684080|PMID:29973595|PMID:30101995|PMID:30256826|PMID:30306255|PMID:30516811|PMID:30675318|PMID:31017654|PMID:32239545|PMID:33821390|PMID:35111200|PMID:8298653 12172837 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1313986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:18414213|PMID:23400628|PMID:25741868|PMID:28492532 12172837 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:0060417 3p deletion syndrome ISO RGD:1313986 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12172837 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:0110843 xeroderma pigmentosum group A ISO RGD:1313986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum group A PMID:26227012 12172837 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:0110844 xeroderma pigmentosum group C ISO RGD:1313986 D RGD:7240710 20180130 OMIM 12172837 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:0110844 xeroderma pigmentosum group C ISO RGD:1313986 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group C PMID:10766188|PMID:11511294|PMID:12177305|PMID:12509233|PMID:14662655|PMID:16081512|PMID:16199547|PMID:16550608|PMID:17079196|PMID:17084680|PMID:17119055|PMID:17576681|PMID:18414213|PMID:18478970|PMID:18809580|PMID:18955168|PMID:19609301|PMID:20054342|PMID:21273643|PMID:21482201|PMID:23173980|PMID:23278166|PMID:23400628|PMID:23984341|PMID:24218596|PMID:24728327|PMID:25256075|PMID:25326635|PMID:25525159|PMID:25566891|PMID:25741868|PMID:26278556|PMID:26884178|PMID:27153395|PMID:27387384|PMID:27607234|PMID:28492532|PMID:28669926|PMID:29178624|PMID:29330851|PMID:29569758|PMID:29684080|PMID:29973595|PMID:30101995|PMID:30256826|PMID:30306255|PMID:30516811|PMID:30675318|PMID:31017654|PMID:31319225|PMID:32239545|PMID:33821390|PMID:35111200|PMID:8298653|PMID:9536098|PMID:9804340 12172837 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:12849 autistic disorder ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9804340 12172837 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:1324 lung cancer ISO RGD:1313987 D RGD:9068941 20220825 MouseDO OMIM:211980 | OMIM:608935 | OMIM:612571 | OMIM:612593 | OMIM:614210 12172837 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:1749 squamous cell carcinoma ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27777383 12172837 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:1793 pancreatic cancer ISO RGD:1313986 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:AF076952 (human) PMID:18559563|REF_RGD_ID:2317130 12172837 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:2394 ovarian cancer ISO RGD:1313986 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 12172837 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:3114 serous cystadenocarcinoma disease_progression ISO RGD:1313986 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1124303, rs3731108 (human) PMID:21751198|REF_RGD_ID:10401086 12172837 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27777383 12172837 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:3910 lung adenocarcinoma ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21327329|PMID:27777383 12172837 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:630 genetic disease ISO RGD:1313986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12172837 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1313986 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency PMID:25741868 12172837 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:9000918 Disease Progression ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27777383 12172837 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27777383 12172837 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27777383 12172837 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:9004814 Chromosome Aberrations ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20106949 12172837 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:9005172 Lung Neoplasms ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17325666|PMID:24084170 12172837 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216194 12172837 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:9007188 Liver Neoplasms ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24084170 12172837 XPC XPC complex subunit, DNA damage recognition and repair factor gene DOID:9252 amino acid metabolic disorder ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9804340 12172857 TAF1D TATA-box binding protein associated factor, RNA polymerase I subunit D gene DOID:1059 intellectual disability ISO RGD:1601854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12172857 TAF1D TATA-box binding protein associated factor, RNA polymerase I subunit D gene DOID:37 skin disease ISO RGD:1601854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12172857 TAF1D TATA-box binding protein associated factor, RNA polymerase I subunit D gene DOID:630 genetic disease ISO RGD:1601854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12172857 TAF1D TATA-box binding protein associated factor, RNA polymerase I subunit D gene DOID:9007964 Arsenic Poisoning ISO RGD:1601854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12172899 FARP1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1313320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 12172899 FARP1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene DOID:303 substance-related disorder ISO RGD:1313320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12172899 FARP1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene DOID:630 genetic disease ISO RGD:1313320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12172899 FARP1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1313320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12172939 PPIL2 peptidylprolyl isomerase like 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1319848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 12172939 PPIL2 peptidylprolyl isomerase like 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1319848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 12172939 PPIL2 peptidylprolyl isomerase like 2 gene DOID:630 genetic disease ISO RGD:1319848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12172968 HSDL1 hydroxysteroid dehydrogenase like 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1354077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12172968 HSDL1 hydroxysteroid dehydrogenase like 1 gene DOID:630 genetic disease ISO RGD:1354077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12172968 HSDL1 hydroxysteroid dehydrogenase like 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1354077 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12172978 KATNIP katanin interacting protein gene DOID:0050777 Joubert syndrome ISO RGD:1604044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:26714646 12172978 KATNIP katanin interacting protein gene DOID:0110995 Joubert Syndrome 26 ISO RGD:1604044 D RGD:7240710 20190315 OMIM 12172978 KATNIP katanin interacting protein gene DOID:0110995 Joubert Syndrome 26 ISO RGD:1604044 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joubert syndrome 26 PMID:25741868|PMID:26714646|PMID:27245168|PMID:28492532 12172978 KATNIP katanin interacting protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 12172978 KATNIP katanin interacting protein gene DOID:630 genetic disease ISO RGD:1604044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12173024 MYH11 myosin heavy chain 11 gene DOID:0050453 lissencephaly ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:18391202|PMID:24033266|PMID:25741868|PMID:26017485|PMID:26436109|PMID:28166811|PMID:28492532|PMID:31664448 12173024 MYH11 myosin heavy chain 11 gene DOID:0050453 lissencephaly ISO RGD:737424 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:18391202|PMID:24033266|PMID:25741868|PMID:26017485|PMID:26436109|PMID:28492532|PMID:28679693|PMID:30122538|PMID:31664448 12173024 MYH11 myosin heavy chain 11 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:737424 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:10199307|PMID:10854329|PMID:14722581|PMID:16444274|PMID:17666408|PMID:17956658|PMID:20734336|PMID:22511748|PMID:22968129|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25741868|PMID:26017485|PMID:26332594|PMID:26792327|PMID:27418595|PMID:27879251|PMID:28492532|PMID:29494672|PMID:29961567|PMID:7923625 12173024 MYH11 myosin heavy chain 11 gene DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 12173024 MYH11 myosin heavy chain 11 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:737424 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction | ClinVar Annotator: match by term: Visceral myopathy PMID:25407000|PMID:25741868|PMID:31389005 12173024 MYH11 myosin heavy chain 11 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve PMID:25741868|PMID:28492532 12173024 MYH11 myosin heavy chain 11 gene DOID:0080600 COVID-19 ISO RGD:737424 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12173024 MYH11 myosin heavy chain 11 gene DOID:0081082 acute myelomonocytic leukemia ISO RGD:737424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10958941 12173024 MYH11 myosin heavy chain 11 gene DOID:0112235 lissencephaly 4 ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly 4 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12173024 MYH11 myosin heavy chain 11 gene DOID:12849 autistic disorder ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12173024 MYH11 myosin heavy chain 11 gene DOID:13832 patent ductus arteriosus ISO RGD:737424 D RGD:9068941 20200609 RGD PMID:16444274|REF_RGD_ID:1580903 12173024 MYH11 myosin heavy chain 11 gene DOID:13832 patent ductus arteriosus ISO RGD:737424 D RGD:9068941 20230202 RGD DNA:mutation:cds:c.4599+1delG (human) PMID:27418595|REF_RGD_ID:155883161 12173024 MYH11 myosin heavy chain 11 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737424 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10199307|PMID:10854329|PMID:14722581|PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18391202|PMID:18796164|PMID:20226094|PMID:20734336|PMID:21521776|PMID:21937134|PMID:22001912|PMID:22511748|PMID:22955375|PMID:22968129|PMID:23099432|PMID:23142374|PMID:23696586|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25110237|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25839328|PMID:25944730|PMID:26000489|PMID:26017485|PMID:26077850|PMID:26133393|PMID:26188975|PMID:26332594|PMID:26436109|PMID:26467025|PMID:26792327|PMID:27146836|PMID:27149842|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:27879251|PMID:28074631|PMID:28074886|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28855619|PMID:29494672|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29650765|PMID:29907982|PMID:29961567|PMID:30122538|PMID:30675029|PMID:30739908|PMID:30885847|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32233023|PMID:32238909|PMID:32368696|PMID:32600061|PMID:33824467|PMID:7923625|PMID:9536098 12173024 MYH11 myosin heavy chain 11 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737424 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10199307|PMID:10854329|PMID:14722581|PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18391202|PMID:18796164|PMID:20226094|PMID:20734336|PMID:21521776|PMID:21937134|PMID:22001912|PMID:22511748|PMID:22955375|PMID:22968129|PMID:23099432|PMID:23142374|PMID:23696586|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25110237|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25839328|PMID:25944730|PMID:26000489|PMID:26017485|PMID:26077850|PMID:26133393|PMID:26188975|PMID:26332594|PMID:26436109|PMID:26467025|PMID:26792327|PMID:27146836|PMID:27149842|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:27879251|PMID:28074631|PMID:28074886|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28855619|PMID:29494672|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29650765|PMID:29907982|PMID:29961567|PMID:30122538|PMID:30675029|PMID:30739908|PMID:30885847|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32233023|PMID:32238909|PMID:32368696|PMID:32600061|PMID:33726816|PMID:33824467|PMID:7923625|PMID:9536098 12173024 MYH11 myosin heavy chain 11 gene DOID:14323 Marfan syndrome ISO RGD:737424 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:25944730|PMID:28492532 12173024 MYH11 myosin heavy chain 11 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:25741868|PMID:28492532 12173024 MYH11 myosin heavy chain 11 gene DOID:1826 epilepsy ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12173024 MYH11 myosin heavy chain 11 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum PMID:11439001|PMID:16541094 12173024 MYH11 myosin heavy chain 11 gene DOID:3627 aortic aneurysm ISO RGD:737424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm | ClinVar Annotator: match by term: Aortic dilatation PMID:22001912|PMID:25741868|PMID:28492532 12173024 MYH11 myosin heavy chain 11 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868 12173024 MYH11 myosin heavy chain 11 gene DOID:4080 tricuspid valve insufficiency ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tricuspid regurgitation PMID:25741868 12173024 MYH11 myosin heavy chain 11 gene DOID:520 aortic disease ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 12173024 MYH11 myosin heavy chain 11 gene DOID:5419 schizophrenia ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12173024 MYH11 myosin heavy chain 11 gene DOID:630 genetic disease ISO RGD:737424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10199307|PMID:10854329|PMID:14722581|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:20734336|PMID:22511748|PMID:22968129|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26332594|PMID:26792327|PMID:27418595|PMID:27879251|PMID:28492532|PMID:29494672|PMID:29961567|PMID:7923625|PMID:8316857|PMID:9536098 12173024 MYH11 myosin heavy chain 11 gene DOID:6420 pulmonary valve stenosis ISO RGD:737424 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:25741868|PMID:28492532 12173024 MYH11 myosin heavy chain 11 gene DOID:65 connective tissue disease ISO RGD:737424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:10199307|PMID:10854329|PMID:14722581|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:20734336|PMID:22001912|PMID:22511748|PMID:22968129|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26332594|PMID:26792327|PMID:27153395|PMID:27418595|PMID:27879251|PMID:28492532|PMID:29494672|PMID:29543232|PMID:29907982|PMID:29961567|PMID:32238909|PMID:32368696|PMID:7923625|PMID:9536098 12173024 MYH11 myosin heavy chain 11 gene DOID:7693 abdominal aortic aneurysm ISO RGD:737424 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:30004237|REF_RGD_ID:13782270 12173024 MYH11 myosin heavy chain 11 gene DOID:8445 intestinal volvulus ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12173024 MYH11 myosin heavy chain 11 gene DOID:9000664 Familial Thoracic Aortic Aneurysm 4 ISO RGD:737424 D RGD:7240710 20180130 OMIM 12173024 MYH11 myosin heavy chain 11 gene DOID:9000664 Familial Thoracic Aortic Aneurysm 4 ISO RGD:737424 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:10199307|PMID:10854329|PMID:11249915|PMID:14722581|PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18391202|PMID:18796164|PMID:20226094|PMID:20734336|PMID:21521776|PMID:21698135|PMID:21937134|PMID:22001912|PMID:22318994|PMID:22511748|PMID:22955375|PMID:22968129|PMID:23099432|PMID:23142374|PMID:23696586|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25110237|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25839328|PMID:25944730|PMID:26000489|PMID:26017485|PMID:26077850|PMID:26133393|PMID:26188975|PMID:26332594|PMID:26436109|PMID:26467025|PMID:26792327|PMID:27081537|PMID:27146836|PMID:27149842|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:27879251|PMID:27884122|PMID:28074631|PMID:28074886|PMID:28166811|PMID:28195393|PMID:28367076|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28855619|PMID:29179725|PMID:29441698|PMID:29494672|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29650765|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30122538|PMID:30675029|PMID:30739908|PMID:30885847|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32081817|PMID:32233023|PMID:32238909|PMID:32368696|PMID:32600061|PMID:33726816|PMID:33824467|PMID:35535697|PMID:7923625|PMID:9536098 12173024 MYH11 myosin heavy chain 11 gene DOID:9000924 Gastrointestinal Motility Disorders ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal and colonic dysmotility PMID:18391202 12173024 MYH11 myosin heavy chain 11 gene DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 ISO RGD:737424 D RGD:7240710 20210616 OMIM 12173024 MYH11 myosin heavy chain 11 gene DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 ISO RGD:737424 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 PMID:10199307|PMID:10854329|PMID:14722581|PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:20734336|PMID:21521776|PMID:22001912|PMID:22511748|PMID:22968129|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25110237|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25741868|PMID:26017485|PMID:26332594|PMID:26792327|PMID:27418595|PMID:27879251|PMID:28492532|PMID:29494672|PMID:29543232|PMID:29575632|PMID:29907982|PMID:29961567|PMID:30739908|PMID:30885847|PMID:32238909|PMID:33726816|PMID:7923625|PMID:9536098 12173024 MYH11 myosin heavy chain 11 gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:25500235|PMID:25637381|PMID:25741868|PMID:28492532 12173024 MYH11 myosin heavy chain 11 gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:737424 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:25944730|PMID:28492532 12173024 MYH11 myosin heavy chain 11 gene DOID:9007096 Stroke ISO RGD:737424 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28492532 12173024 MYH11 myosin heavy chain 11 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:737424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:24581741|PMID:26601923|PMID:28492532|PMID:30554721 12173024 MYH11 myosin heavy chain 11 gene DOID:9008419 Volvulus Of Midgut ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12173024 MYH11 myosin heavy chain 11 gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:737424 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: AAT1 | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:10199307|PMID:10854329|PMID:14722581|PMID:16444274|PMID:17666408|PMID:17956658|PMID:20734336|PMID:22511748|PMID:22968129|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26332594|PMID:26792327|PMID:27418595|PMID:27879251|PMID:28492532|PMID:29494672|PMID:29961567|PMID:33726816|PMID:7923625 12173024 MYH11 myosin heavy chain 11 gene DOID:9009175 Visceral Myopathy 2 ISO RGD:737424 D RGD:7240710 20210616 OMIM 12173024 MYH11 myosin heavy chain 11 gene DOID:9009175 Visceral Myopathy 2 ISO RGD:737424 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: VISCERAL MYOPATHY 2 | ClinVar Annotator: match by term: Visceral myopathy 2 PMID:10199307|PMID:10854329|PMID:14722581|PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18391202|PMID:20734336|PMID:21521776|PMID:22001912|PMID:22511748|PMID:22968129|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25110237|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25741868|PMID:26017485|PMID:26332594|PMID:26792327|PMID:27418595|PMID:27879251|PMID:28492532|PMID:29494672|PMID:29543232|PMID:29575632|PMID:29907982|PMID:29961567|PMID:30739908|PMID:30885847|PMID:31389005|PMID:32238909|PMID:33726816|PMID:7923625|PMID:9536098 12173024 MYH11 myosin heavy chain 11 gene DOID:9119 acute myeloid leukemia ISO RGD:737424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229|PMID:27798625 12173086 TMEM115 transmembrane protein 115 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532|PMID:30410802 12173086 TMEM115 transmembrane protein 115 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532|PMID:30410802 12173086 TMEM115 transmembrane protein 115 gene DOID:630 genetic disease ISO RGD:1605401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173086 TMEM115 transmembrane protein 115 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12173092 THAP12 THAP domain containing 12 gene DOID:1059 intellectual disability ISO RGD:1320154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12173092 THAP12 THAP domain containing 12 gene DOID:630 genetic disease ISO RGD:1320154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173101 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:0050451 Brugada syndrome ISO RGD:1347000 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:19122847|PMID:19306396|PMID:23861362|PMID:25741868|PMID:28492532|PMID:28855170|PMID:29247119 12173101 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:0050700 cardiomyopathy ISO RGD:1347000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12173101 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1347000 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12173101 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:0110223 Brugada syndrome 6 ISO RGD:1347000 D RGD:7240710 20180130 OMIM 12173101 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:0110223 Brugada syndrome 6 ISO RGD:1347000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome 6 PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16313760|PMID:16449802|PMID:17395131|PMID:18209471|PMID:19122847|PMID:19306396|PMID:22987075|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28747690|PMID:28855170|PMID:29247119|PMID:30847666 12173101 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:1059 intellectual disability ISO RGD:1347000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12173101 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:14452 hypokalemic periodic paralysis ISO RGD:1347000 D RGD:9068941 20200609 RGD PMID:11207363|REF_RGD_ID:1600040 12173101 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:2843 long QT syndrome ISO RGD:1347000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:25741868|PMID:28492532 12173101 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:630 genetic disease ISO RGD:1347000 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12173101 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1347000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12173101 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:9000727 Syncope ISO RGD:1347000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syncope PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12173101 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1347000 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:19122847|PMID:19306396|PMID:23861362|PMID:25741868|PMID:28492532|PMID:28855170|PMID:29247119 12173101 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:9007560 Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities ISO RGD:1347000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | ClinVar Annotator: match by term: LIPOYLTRANSFERASE 2 DEFICIENCY PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:19306396|PMID:22987075|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28747690 12173122 KBTBD7 kelch repeat and BTB domain containing 7 gene DOID:13501 Moebius syndrome ISO RGD:1312909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 12173122 KBTBD7 kelch repeat and BTB domain containing 7 gene DOID:630 genetic disease ISO RGD:1312909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173127 SPPL3 signal peptide peptidase like 3 gene DOID:630 genetic disease ISO RGD:1605007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173142 TPST2 tyrosylprotein sulfotransferase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1313297 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12173142 TPST2 tyrosylprotein sulfotransferase 2 gene DOID:0110271 cataract 23 ISO RGD:1313297 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 12173142 TPST2 tyrosylprotein sulfotransferase 2 gene DOID:630 genetic disease ISO RGD:1313297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173158 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:0060327 omphalocele ISO RGD:1603682 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Omphalocoele PMID:25741868 12173158 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:0080697 Opitz GBBB syndrome ISO RGD:1603682 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS PMID:25741868|PMID:30472488 12173158 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:0080698 Teebi hypertelorism syndrome 1 ISO RGD:1603682 D RGD:7240710 20220608 OMIM 12173158 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:0080698 Teebi hypertelorism syndrome 1 ISO RGD:1603682 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Teebi hypertelorism syndrome 1 PMID:25412741|PMID:25741868|PMID:30472488|PMID:31953237|PMID:3228142|PMID:32954677 12173158 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:0081073 Teebi hypertelorism syndrome ISO RGD:1603682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Teebi hypertelorism syndrome PMID:17506099|PMID:25412741|PMID:25741868|PMID:25741869|PMID:26111080|PMID:28492532|PMID:30472488|PMID:31953237 12173158 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:0111706 oblique facial clefting 1 ISO RGD:1603682 D RGD:7240710 20180130 OMIM 12173158 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:0111706 oblique facial clefting 1 ISO RGD:1603682 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Oculomaxillofacial dysostosis PMID:21703590|PMID:25741868|PMID:28492532 12173158 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:10283 prostate cancer ISO RGD:1603682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12173158 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:1059 intellectual disability ISO RGD:1603682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12173158 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:11198 DiGeorge syndrome ISO RGD:1603682 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant Opitz G/BBB syndrome PMID:25741868|PMID:28492532 12173158 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:1826 epilepsy ISO RGD:1603682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12173158 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:5419 schizophrenia ISO RGD:1603682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12173158 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:630 genetic disease ISO RGD:1603682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12173158 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:674 cleft palate ISO RGD:1332016 D RGD:9068941 20220825 MouseDO 12173158 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1603682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:28492532|PMID:31837199 12173192 CUZD1 CUB and zona pellucida like domains 1 gene DOID:2340 craniosynostosis ISO RGD:1353922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 12173192 CUZD1 CUB and zona pellucida like domains 1 gene DOID:630 genetic disease ISO RGD:1353922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173203 ABI2 abl interactor 2 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1353143 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12173203 ABI2 abl interactor 2 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1353143 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12173203 ABI2 abl interactor 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:1353143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12173203 ABI2 abl interactor 2 gene DOID:630 genetic disease ISO RGD:1353143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173203 ABI2 abl interactor 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1353143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12173203 ABI2 abl interactor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12173203 ABI2 abl interactor 2 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1353143 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12173238 SEZ6 seizure related 6 homolog gene DOID:630 genetic disease ISO RGD:1320435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173238 SEZ6 seizure related 6 homolog gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12173238 SEZ6 seizure related 6 homolog gene DOID:9007491 Childhood Schizophrenia ISO RGD:1320435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 12173271 SELENOS selenoprotein S gene DOID:0050860 colorectal adenoma ISO RGD:1601754 D RGD:9068941 20220407 RGD mRNA:decreased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 12173271 SELENOS selenoprotein S gene DOID:0080199 colorectal carcinoma ISO RGD:1601754 D RGD:9068941 20220407 RGD mRNA:decreased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 12173271 SELENOS selenoprotein S gene DOID:3908 lung non-small cell carcinoma ISO RGD:1601754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20471133 12173271 SELENOS selenoprotein S gene DOID:630 genetic disease ISO RGD:1601754 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173271 SELENOS selenoprotein S gene DOID:9002304 Prostatic Neoplasms ISO RGD:1601754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12173271 SELENOS selenoprotein S gene DOID:9005372 Inflammation ISO RGD:1601754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16227999 12173279 BPIFA2 BPI fold containing family A member 2 gene DOID:303 substance-related disorder ISO RGD:1351299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12173279 BPIFA2 BPI fold containing family A member 2 gene DOID:630 genetic disease ISO RGD:1351299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173291 GLRX glutaredoxin gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736383 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12173291 GLRX glutaredoxin gene DOID:0080600 COVID-19 ISO RGD:736383 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12173291 GLRX glutaredoxin gene DOID:224 transient cerebral ischemia ISO RGD:70951 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:brain: PMID:10329397|REF_RGD_ID:9686043 12173291 GLRX glutaredoxin gene DOID:630 genetic disease ISO RGD:736383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173291 GLRX glutaredoxin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12173291 GLRX glutaredoxin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70951 D RGD:9068941 20200609 RGD protein:increase activity:retina: PMID:17324929|REF_RGD_ID:9686046 12173291 GLRX glutaredoxin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736383 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12173291 GLRX glutaredoxin gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:70951 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart: PMID:18163565|REF_RGD_ID:2306160 12173291 GLRX glutaredoxin gene DOID:9970 obesity ISO RGD:70951 D RGD:9068941 20200609 RGD protein:increased expression:renal visceral adipose: PMID:23404913|REF_RGD_ID:9686064 12173302 TMEM38A transmembrane protein 38A gene DOID:0080600 COVID-19 ISO RGD:1351909 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12173302 TMEM38A transmembrane protein 38A gene DOID:630 genetic disease ISO RGD:1351909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173312 PPP2R2C protein phosphatase 2 regulatory subunit Bgamma gene DOID:630 genetic disease ISO RGD:732376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173312 PPP2R2C protein phosphatase 2 regulatory subunit Bgamma gene DOID:9002884 Emphysema ISO RGD:732376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22223484 12173328 TESMIN testis expressed metallothionein like protein gene DOID:1059 intellectual disability ISO RGD:1320315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12173328 TESMIN testis expressed metallothionein like protein gene DOID:630 genetic disease ISO RGD:1320315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173328 TESMIN testis expressed metallothionein like protein gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1320315 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12173328 TESMIN testis expressed metallothionein like protein gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1320315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12173356 VSTM5 V-set and transmembrane domain containing 5 gene DOID:1059 intellectual disability ISO RGD:2301112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12173356 VSTM5 V-set and transmembrane domain containing 5 gene DOID:630 genetic disease ISO RGD:2301112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173369 SHLD2 shieldin complex subunit 2 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1354134 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 12173369 SHLD2 shieldin complex subunit 2 gene DOID:0070217 familial hyperinsulinemic hypoglycemia 6 ISO RGD:1354134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome PMID:25741868|PMID:26467025|PMID:28492532 12173369 SHLD2 shieldin complex subunit 2 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1354134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 12173369 SHLD2 shieldin complex subunit 2 gene DOID:2018 hyperinsulinism ISO RGD:1354134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperinsulinism, Dominant 12173369 SHLD2 shieldin complex subunit 2 gene DOID:630 genetic disease ISO RGD:1354134 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12173369 SHLD2 shieldin complex subunit 2 gene DOID:9351 diabetes mellitus ISO RGD:1354134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 12173415 ZCCHC13 zinc finger CCHC-type containing 13 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12173415 ZCCHC13 zinc finger CCHC-type containing 13 gene DOID:12849 autistic disorder ISO RGD:1346047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12173415 ZCCHC13 zinc finger CCHC-type containing 13 gene DOID:630 genetic disease ISO RGD:1346047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173476 MIR507B microRNA mir-507b gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:3497335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12173476 MIR507B microRNA mir-507b gene DOID:12849 autistic disorder ISO RGD:3497335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12173519 TGM1 transglutaminase 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:731987 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12173519 TGM1 transglutaminase 1 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:731987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:10482949|PMID:10914678|PMID:11407995|PMID:11511296|PMID:14996130|PMID:16968736|PMID:18948357|PMID:19212342|PMID:19241467|PMID:19262603|PMID:19863506|PMID:19890349|PMID:20167857|PMID:20663883|PMID:21895619|PMID:22258055|PMID:22801880|PMID:23096117|PMID:23278109|PMID:23895935|PMID:24033266|PMID:24314425|PMID:24419105|PMID:25154629|PMID:25525159|PMID:25741868|PMID:25766764|PMID:26076875|PMID:26594337|PMID:26762237|PMID:27025581|PMID:28403434|PMID:28492532|PMID:30578701|PMID:30693114|PMID:31046801|PMID:31168818|PMID:31631373|PMID:31953843|PMID:32105361|PMID:32573669|PMID:32597326|PMID:33786896|PMID:34782754|PMID:7581379|PMID:7824952|PMID:9178327|PMID:9261103|PMID:9326318|PMID:9359043|PMID:9545389|PMID:9593710|PMID:9887377 12173519 TGM1 transglutaminase 1 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 IAGP D RGD:12801476 20230510 OMIA Ichthyosis, TGM1-related PMID:19438474|PMID:23182326|PMID:34796560 12173519 TGM1 transglutaminase 1 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 ISO RGD:731987 D RGD:7240710 20180130 OMIM 12173519 TGM1 transglutaminase 1 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 ISO RGD:731987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 PMID:10232404|PMID:10482949|PMID:10694685|PMID:10886517|PMID:10914678|PMID:11251583|PMID:11298529|PMID:11348475|PMID:11407995|PMID:11511296|PMID:12535215|PMID:12542526|PMID:14996130|PMID:16133457|PMID:16199547|PMID:16280294|PMID:16908342|PMID:16968736|PMID:16977323|PMID:17635512|PMID:18669893|PMID:18948357|PMID:19156839|PMID:19212342|PMID:19241467|PMID:19262603|PMID:19278426|PMID:19500103|PMID:19863506|PMID:19890349|PMID:20021785|PMID:20137757|PMID:20167857|PMID:20301779|PMID:20522418|PMID:20663883|PMID:21199492|PMID:21668430|PMID:21895619|PMID:22211879|PMID:22258055|PMID:22311480|PMID:22437313|PMID:22511925|PMID:22622417|PMID:22801880|PMID:22992804|PMID:23096117|PMID:23192619|PMID:23278109|PMID:23621129|PMID:23689228|PMID:23895935|PMID:24033266|PMID:24314425|PMID:24419105|PMID:24824130|PMID:25154629|PMID:25525159|PMID:25741868|PMID:25766764|PMID:25998749|PMID:26076875|PMID:26220141|PMID:26594337|PMID:26620441|PMID:26762237|PMID:26990434|PMID:27025581|PMID:27442430|PMID:28403434|PMID:28488422|PMID:28492532|PMID:28747283|PMID:30578701|PMID:30600594|PMID:30693114|PMID:30950025|PMID:31046801|PMID:31168818|PMID:31631373|PMID:31953843|PMID:32105361|PMID:32573669|PMID:32597326|PMID:33786896|PMID:34782754|PMID:7581379|PMID:7773290|PMID:7824952|PMID:9178327|PMID:9261103|PMID:9326318|PMID:9359043|PMID:9545389|PMID:9593710|PMID:9887377 12173519 TGM1 transglutaminase 1 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:731987 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:18669893|PMID:20301779|PMID:21199492|PMID:22211879|PMID:25741868|PMID:28492532 12173519 TGM1 transglutaminase 1 gene DOID:0070018 autosomal dominant dyskeratosis congenita 3 ISO RGD:731987 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 3 PMID:18669893|PMID:20301779|PMID:21199492|PMID:22211879|PMID:25741868|PMID:28492532 12173519 TGM1 transglutaminase 1 gene DOID:0070026 Revesz syndrome ISO RGD:731987 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Revesz syndrome PMID:18669893|PMID:20301779|PMID:21199492|PMID:22211879|PMID:25741868|PMID:28492532 12173519 TGM1 transglutaminase 1 gene DOID:10140 dry eye syndrome ISO RGD:731987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16146918 12173519 TGM1 transglutaminase 1 gene DOID:1697 ichthyosis ISO RGD:731987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ichthyosis PMID:24824130|PMID:25741868 12173519 TGM1 transglutaminase 1 gene DOID:2729 dyskeratosis congenita ISO RGD:731987 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18669893|PMID:20301779|PMID:21199492|PMID:22211879|PMID:25741868|PMID:28492532 12173519 TGM1 transglutaminase 1 gene DOID:3602 toxic encephalopathy ISO RGD:731987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12173519 TGM1 transglutaminase 1 gene DOID:409 liver disease ISO RGD:731987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12173519 TGM1 transglutaminase 1 gene DOID:630 genetic disease ISO RGD:731987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12173519 TGM1 transglutaminase 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:731987 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12173519 TGM1 transglutaminase 1 gene DOID:9001341 Chloracne ISO RGD:731987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21237254 12173519 TGM1 transglutaminase 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:731987 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12173519 TGM1 transglutaminase 1 gene DOID:9008550 Vitamin A Deficiency ISO RGD:731987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16146918 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:0050073 invasive aspergillosis ISO RGD:1332345 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20926800|REF_RGD_ID:7483599 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:0050486 exanthem ISO RGD:1347908 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:skin PMID:18384452|REF_RGD_ID:7483602 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma disease_progression ISO RGD:1347908 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:skin, serum PMID:22048239|REF_RGD_ID:7483601 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:1332345 D RGD:9068941 20200609 RGD PMID:15287366|REF_RGD_ID:7483593 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:0080600 COVID-19 ISO RGD:1347908 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:10140 dry eye syndrome treatment ISO RGD:1332345 D RGD:9068941 20200609 RGD PMID:23702781|REF_RGD_ID:7483582 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:11168 anogenital venereal wart ISO RGD:1347908 D RGD:9068941 20200609 RGD protein:decreased expression:skin PMID:17545018|REF_RGD_ID:7483603 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:11729 Lyme disease ISO RGD:1347908 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid PMID:23371320|REF_RGD_ID:7488895 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:1205 allergic disease ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:12895 keratoconjunctivitis sicca ISO RGD:735948 D RGD:9068941 20200609 RGD mRNA:increased expression:conjunctiva, cornea PMID:20007286|REF_RGD_ID:7483613 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:1564 fungal infectious disease ISO RGD:1347908 D RGD:9068941 20200609 RGD associated with Rhinosinusitis PMID:22287435|REF_RGD_ID:7483612 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:1793 pancreatic cancer ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30603057 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:1793 pancreatic cancer ISO RGD:1347908 D RGD:9068941 20200609 RGD PMID:10225458|REF_RGD_ID:7483623 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:224 transient cerebral ischemia treatment ISO RGD:3646 D RGD:9068941 20200609 RGD PMID:19428685|REF_RGD_ID:7488896 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:2316 brain ischemia ISO RGD:3646 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:9916893|REF_RGD_ID:69987 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:2377 multiple sclerosis ISO RGD:1347908 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:2722 acrodermatitis ISO RGD:1347908 D RGD:9068941 20200609 RGD mRNA:decreased expression:skin PMID:17606602|REF_RGD_ID:7483609 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:2841 asthma ISO RGD:1347908 D RGD:9068941 20200609 RGD associated with Allergic Rhinitis;protein:increased expression:serum PMID:22469443|REF_RGD_ID:7483618 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:2841 asthma ISO RGD:1347908 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:18422729|REF_RGD_ID:7483597 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1347908 D RGD:9068941 20200609 RGD PMID:23192593|REF_RGD_ID:7483632 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:3178 skin papilloma ISO RGD:1347908 D RGD:9068941 20200609 RGD protein:decreased expression:skin PMID:21715145|REF_RGD_ID:7483622 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:3310 atopic dermatitis severity ISO RGD:1347908 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11133838|REF_RGD_ID:7483580 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:3310 atopic dermatitis treatment ISO RGD:1332345 D RGD:9068941 20200609 RGD PMID:19162238|REF_RGD_ID:7483583 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:37 skin disease ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:418 systemic scleroderma ISO RGD:1347908 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:21742595|REF_RGD_ID:7483587 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:5199 ureteral obstruction ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:552 pneumonia ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:630 genetic disease ISO RGD:1347908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:8577 ulcerative colitis ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16306769 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:8577 ulcerative colitis treatment ISO RGD:3646 D RGD:9068941 20200609 RGD PMID:21887805|REF_RGD_ID:7488892 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:8893 psoriasis ISO RGD:1332345 D RGD:9068941 20200609 RGD PMID:22895364|REF_RGD_ID:7483594 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:8893 psoriasis ISO RGD:1347908 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:10843722|REF_RGD_ID:7483581 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:8893 psoriasis treatment ISO RGD:1347908 D RGD:9068941 20200609 RGD PMID:16081850|REF_RGD_ID:7483625 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1347908 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19247846|REF_RGD_ID:14995923 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:3646 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral artery PMID:17977275|REF_RGD_ID:7488893 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30603057 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:9000998 Brain Injuries treatment ISO RGD:3646 D RGD:9068941 20200609 RGD PMID:22040257|REF_RGD_ID:7483630 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:9001472 Nasal Polyps ISO RGD:1347908 D RGD:9068941 20200609 RGD associated with Allergic Rhinitis PMID:19027509|REF_RGD_ID:7483586 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:9001472 Nasal Polyps ISO RGD:1347908 D RGD:9068941 20200609 RGD associated with Rhinosinusitis PMID:22287435|REF_RGD_ID:7483612 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30603057 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:9002165 Diabetic Nephropathies ISO RGD:3646 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17664181|REF_RGD_ID:7483629 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:9002395 Hypothermia ISO RGD:3646 D RGD:9068941 20200609 RGD PMID:16469832|REF_RGD_ID:2311385 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:9002928 Colonic Neoplasms ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:9003036 Oral Lichen Planus ISO RGD:1347908 D RGD:9068941 20200609 RGD PMID:16454813|REF_RGD_ID:7483584 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:1332345 D RGD:9068941 20200609 RGD PMID:14500387|REF_RGD_ID:7483600 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:9004590 Acute Liver Failure ISO RGD:1347908 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19247846|REF_RGD_ID:14995923 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21340626 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:9005941 Rhinosinusitis ISO RGD:1347908 D RGD:9068941 20200609 RGD PMID:16702571|REF_RGD_ID:7483585 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:9007964 Arsenic Poisoning ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:9008443 Colorectal Neoplasms treatment ISO RGD:1332345 D RGD:9068941 20200609 RGD PMID:14500387|REF_RGD_ID:7483600 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:9008939 Breast Neoplasms ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21340626 12173542 CCL20 C-C motif chemokine ligand 20 gene DOID:9938 dacryocystitis ISO RGD:735948|RGD:737488 D RGD:9068941 20200609 RGD PMID:23116218|REF_RGD_ID:7483616 12173554 ZNF451 zinc finger protein 451 gene DOID:5419 schizophrenia ISO RGD:1314152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12173554 ZNF451 zinc finger protein 451 gene DOID:630 genetic disease ISO RGD:1314152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173585 CLASP2 cytoplasmic linker associated protein 2 gene DOID:630 genetic disease ISO RGD:733933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173654 PABPC1L poly(A) binding protein cytoplasmic 1 like gene DOID:2234 focal epilepsy ISO RGD:1346773 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12173654 PABPC1L poly(A) binding protein cytoplasmic 1 like gene DOID:630 genetic disease ISO RGD:1346773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173654 PABPC1L poly(A) binding protein cytoplasmic 1 like gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1346773 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12173654 PABPC1L poly(A) binding protein cytoplasmic 1 like gene DOID:9006513 Oocyte Maturation Defect 1 ISO RGD:1346773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 1 12173672 FH fumarate hydratase gene DOID:0080600 COVID-19 ISO RGD:735599 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12173672 FH fumarate hydratase gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:735599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified PMID:25741868|PMID:28492532 12173672 FH fumarate hydratase gene DOID:0111261 fumarase deficiency ISO RGD:735599 D RGD:7240710 20180130 OMIM 12173672 FH fumarate hydratase gene DOID:0111261 fumarase deficiency ISO RGD:735599 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:10896297|PMID:11865300|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16151915|PMID:16199547|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16876016|PMID:17182618|PMID:17270241|PMID:17392716|PMID:17576681|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18503824|PMID:19151755|PMID:19183174|PMID:19339519|PMID:19939761|PMID:19967458|PMID:20301679|PMID:20549362|PMID:20618355|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22127509|PMID:22382802|PMID:22595425|PMID:22703879|PMID:2314594|PMID:23211287|PMID:23612258|PMID:24182348|PMID:24334767|PMID:24346898|PMID:24441663|PMID:24728327|PMID:25004247|PMID:25637381|PMID:25741868|PMID:25852058|PMID:25923021|PMID:25985877|PMID:26113603|PMID:26173633|PMID:26467025|PMID:26580448|PMID:26700204|PMID:26900816|PMID:27037871|PMID:27541980|PMID:28196407|PMID:28300276|PMID:28371217|PMID:28400895|PMID:28492532|PMID:28592321|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29052812|PMID:29423582|PMID:29456767|PMID:29641532|PMID:29893455|PMID:29909963|PMID:30050099|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31444830|PMID:31636096|PMID:31746132|PMID:31794323|PMID:31831373|PMID:32008151|PMID:32012241|PMID:32612247|PMID:32782288|PMID:32808982|PMID:32999401|PMID:33052056|PMID:33125697|PMID:33166576|PMID:33362715|PMID:33397043|PMID:33439686|PMID:33789101|PMID:33858029|PMID:34337822|PMID:34643235|PMID:36773955|PMID:8200987|PMID:9300800|PMID:9536098|PMID:9635293 12173672 FH fumarate hydratase gene DOID:10907 microcephaly ISO RGD:735599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:30548481 12173672 FH fumarate hydratase gene DOID:13223 uterine fibroid ISO RGD:735599 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Uterine leiomyoma PMID:11865300|PMID:21398687|PMID:25741868|PMID:28492532 12173672 FH fumarate hydratase gene DOID:1540 parathyroid carcinoma ISO RGD:735599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12173672 FH fumarate hydratase gene DOID:1612 breast cancer ISO RGD:735599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast 12173672 FH fumarate hydratase gene DOID:2394 ovarian cancer ISO RGD:735599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:26467025|PMID:28492532|PMID:30548481|PMID:33397043 12173672 FH fumarate hydratase gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:735599 D RGD:9068941 20210820 RGD DNA:SNP: (rs1414493) (human) PMID:25576295|REF_RGD_ID:150340558 12173672 FH fumarate hydratase gene DOID:630 genetic disease ISO RGD:735599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11865300|PMID:21398687|PMID:28492532|PMID:33063682 12173672 FH fumarate hydratase gene DOID:684 hepatocellular carcinoma ISO RGD:735599 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:10896297|PMID:15221078|PMID:16876016|PMID:17182618|PMID:18313410|PMID:19151755|PMID:20301679|PMID:21445611|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28747166 12173672 FH fumarate hydratase gene DOID:687 hepatoblastoma ISO RGD:735599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:28492532 12173672 FH fumarate hydratase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12173672 FH fumarate hydratase gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:735599 D RGD:7240710 20180130 OMIM 12173672 FH fumarate hydratase gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:735599 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:10896297|PMID:11865300|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16199547|PMID:16237213|PMID:16309500|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:16881969|PMID:17182618|PMID:17270241|PMID:17392716|PMID:17908262|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18414213|PMID:19151755|PMID:19183174|PMID:19939761|PMID:19967458|PMID:20301679|PMID:20549362|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21929734|PMID:22069215|PMID:22127509|PMID:22243733|PMID:22473397|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23211287|PMID:23612258|PMID:24182348|PMID:24346898|PMID:24419633|PMID:24441663|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25292446|PMID:25477250|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25852058|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26113603|PMID:26173633|PMID:26296701|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26556299|PMID:26900816|PMID:26945337|PMID:27037871|PMID:27541980|PMID:28300276|PMID:28400895|PMID:28492532|PMID:28592321|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29052812|PMID:29423582|PMID:29456767|PMID:29625052|PMID:29641532|PMID:29893455|PMID:29909963|PMID:29978187|PMID:30171332|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31299266|PMID:31444830|PMID:31524643|PMID:31636096|PMID:31746132|PMID:31794323|PMID:31831373|PMID:32012241|PMID:32154112|PMID:32782288|PMID:32999401|PMID:33166576|PMID:33439686|PMID:33442023|PMID:33789101|PMID:33858029|PMID:34337822|PMID:34604083|PMID:34643235|PMID:34994643|PMID:35216667|PMID:35806449|PMID:35874919|PMID:9300800|PMID:9635293 12173672 FH fumarate hydratase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735599 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10896297|PMID:11585823|PMID:11865300|PMID:12183404|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16155190|PMID:16199547|PMID:16237213|PMID:16309500|PMID:16403393|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:17182618|PMID:17392716|PMID:17576681|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18514489|PMID:19151755|PMID:19339519|PMID:19939761|PMID:20231875|PMID:20549362|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21340633|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22086304|PMID:22127509|PMID:22243733|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23203078|PMID:23211287|PMID:23320739|PMID:23443020|PMID:23612258|PMID:24182348|PMID:24334767|PMID:24419633|PMID:24441663|PMID:24526232|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25004247|PMID:25292446|PMID:25525159|PMID:25613812|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25852058|PMID:25913776|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26173633|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26700204|PMID:26900816|PMID:26945337|PMID:26983443|PMID:27037871|PMID:27187686|PMID:27454940|PMID:27541980|PMID:28266706|PMID:28300276|PMID:28492532|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29423582|PMID:29456767|PMID:29909963|PMID:30050099|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31444830|PMID:31524643|PMID:31564060|PMID:31746132|PMID:31831373|PMID:32463173|PMID:32612247|PMID:33125697|PMID:33167498|PMID:33362715|PMID:34604083|PMID:8007976|PMID:9300800|PMID:9536098|PMID:9635293|PMID:9665847 12173672 FH fumarate hydratase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735599 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10896297|PMID:11585823|PMID:11865300|PMID:12183404|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16155190|PMID:16199547|PMID:16237213|PMID:16309500|PMID:16403393|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:17182618|PMID:17392716|PMID:17576681|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18514489|PMID:19151755|PMID:19339519|PMID:19939761|PMID:20231875|PMID:20301679|PMID:20549362|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21340633|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22086304|PMID:22127509|PMID:22243733|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23203078|PMID:23211287|PMID:23320739|PMID:23443020|PMID:23612258|PMID:24182348|PMID:24334767|PMID:24419633|PMID:24441663|PMID:24526232|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25004247|PMID:25292446|PMID:25525159|PMID:25613812|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25852058|PMID:25913776|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26173633|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26700204|PMID:26900816|PMID:26945337|PMID:26983443|PMID:27037871|PMID:27187686|PMID:27454940|PMID:27541980|PMID:28266706|PMID:28300276|PMID:28492532|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29423582|PMID:29456767|PMID:29909963|PMID:30050099|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31444830|PMID:31524643|PMID:31564060|PMID:31746132|PMID:31831373|PMID:32463173|PMID:32612247|PMID:33125697|PMID:33167498|PMID:33362715|PMID:34604083|PMID:34994643|PMID:8007976|PMID:8200987|PMID:9300800|PMID:9536098|PMID:9635293|PMID:9665847 12173672 FH fumarate hydratase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735599 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10896297|PMID:11585823|PMID:11865300|PMID:12183404|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16155190|PMID:16199547|PMID:16237213|PMID:16309500|PMID:16403393|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:17182618|PMID:17392716|PMID:17576681|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18514489|PMID:19151755|PMID:19339519|PMID:19939761|PMID:20231875|PMID:20301679|PMID:20549362|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21340633|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22086304|PMID:22127509|PMID:22243733|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23203078|PMID:23211287|PMID:23320739|PMID:23443020|PMID:23612258|PMID:24182348|PMID:24334767|PMID:24419633|PMID:24441663|PMID:24526232|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25004247|PMID:25292446|PMID:25525159|PMID:25613812|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25852058|PMID:25913776|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26173633|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26493120|PMID:26556299|PMID:26580448|PMID:26700204|PMID:26900816|PMID:26945337|PMID:26983443|PMID:27037871|PMID:27187686|PMID:27454940|PMID:27541980|PMID:28266706|PMID:28300276|PMID:28492532|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29423582|PMID:29456767|PMID:29909963|PMID:30050099|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31444830|PMID:31524643|PMID:31564060|PMID:31746132|PMID:31831373|PMID:32463173|PMID:32612247|PMID:33125697|PMID:33167498|PMID:33362715|PMID:34604083|PMID:34994643|PMID:8007976|PMID:8200987|PMID:9300800|PMID:9536098|PMID:9635293|PMID:9665847 12173672 FH fumarate hydratase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10896297|PMID:11865300|PMID:12183404|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16155190|PMID:16199547|PMID:16206287|PMID:16237213|PMID:16309500|PMID:16403393|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:17182618|PMID:17392716|PMID:17576681|PMID:17768033|PMID:17908262|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18514489|PMID:19151755|PMID:19183174|PMID:19339519|PMID:19470762|PMID:19939761|PMID:19967458|PMID:20056206|PMID:20231875|PMID:20301679|PMID:20549362|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21340633|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22086304|PMID:22127509|PMID:22243733|PMID:22473397|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23203078|PMID:23211287|PMID:23320739|PMID:23443020|PMID:23612258|PMID:23707781|PMID:24182348|PMID:24334767|PMID:24346898|PMID:24419633|PMID:24441663|PMID:24526232|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25004247|PMID:25292446|PMID:25477250|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25852058|PMID:25913776|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26113603|PMID:26173633|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26493120|PMID:26556299|PMID:26574848|PMID:26580448|PMID:26700204|PMID:26900816|PMID:26945337|PMID:26983443|PMID:27037871|PMID:27187686|PMID:27454940|PMID:27541980|PMID:28266706|PMID:28300276|PMID:28371217|PMID:28400895|PMID:28492532|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29423582|PMID:29456767|PMID:29625052|PMID:29641532|PMID:29655270|PMID:29893455|PMID:29909963|PMID:29978187|PMID:30050099|PMID:30171332|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31299266|PMID:31444830|PMID:31524643|PMID:31564060|PMID:31636096|PMID:31746132|PMID:31794323|PMID:31831373|PMID:32008151|PMID:32012241|PMID:32154112|PMID:32376712|PMID:32463173|PMID:32612247|PMID:32782288|PMID:32808982|PMID:32999401|PMID:33063682|PMID:33125697|PMID:33166576|PMID:33167498|PMID:33362715|PMID:33397043|PMID:33439686|PMID:33461594|PMID:33789101|PMID:33858029|PMID:34337822|PMID:34604083|PMID:34994643|PMID:35216667|PMID:35874919|PMID:8200987|PMID:9300800|PMID:9536098|PMID:9635293|PMID:9665847 12173672 FH fumarate hydratase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735599 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10896297|PMID:11865300|PMID:12183404|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16155190|PMID:16199547|PMID:16206287|PMID:16237213|PMID:16309500|PMID:16403393|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:17182618|PMID:17392716|PMID:17576681|PMID:17768033|PMID:17908262|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18514489|PMID:19151755|PMID:19183174|PMID:19339519|PMID:19470762|PMID:19939761|PMID:19967458|PMID:20056206|PMID:20231875|PMID:20301679|PMID:20549362|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21340633|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22086304|PMID:22127509|PMID:22243733|PMID:22473397|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23203078|PMID:23211287|PMID:23320739|PMID:23443020|PMID:23612258|PMID:23707781|PMID:24182348|PMID:24334767|PMID:24346898|PMID:24419633|PMID:24441663|PMID:24526232|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25004247|PMID:25292446|PMID:25477250|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25852058|PMID:25913776|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26113603|PMID:26173633|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26493120|PMID:26556299|PMID:26574848|PMID:26580448|PMID:26700204|PMID:26900816|PMID:26945337|PMID:26983443|PMID:27037871|PMID:27187686|PMID:27454940|PMID:27541980|PMID:28266706|PMID:28300276|PMID:28371217|PMID:28400895|PMID:28492532|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29052812|PMID:29423582|PMID:29456767|PMID:29625052|PMID:29641532|PMID:29655270|PMID:29893455|PMID:29909963|PMID:29978187|PMID:30050099|PMID:30171332|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31299266|PMID:31444830|PMID:31524643|PMID:31564060|PMID:31636096|PMID:31746132|PMID:31794323|PMID:31831373|PMID:32008151|PMID:32012241|PMID:32154112|PMID:32376712|PMID:32463173|PMID:32612247|PMID:32782288|PMID:32808982|PMID:32999401|PMID:33063682|PMID:33125697|PMID:33166576|PMID:33167498|PMID:33362715|PMID:33397043|PMID:33439686|PMID:33461594|PMID:33606809|PMID:33789101|PMID:33858029|PMID:34156580|PMID:34337822|PMID:34604083|PMID:34643235|PMID:34994643|PMID:35216667|PMID:35874919|PMID:36773955|PMID:8200987|PMID:9300800|PMID:9536098|PMID:9635293|PMID:9665847 12173672 FH fumarate hydratase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12173686 KLF14 KLF transcription factor 14 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12173686 KLF14 KLF transcription factor 14 gene DOID:630 genetic disease ISO RGD:1343776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173686 KLF14 KLF transcription factor 14 gene DOID:9003370 Dyslipidemias ISO RGD:1343776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29632379 12173686 KLF14 KLF transcription factor 14 gene DOID:9007692 Insulin Resistance ISO RGD:1343776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29632379 12173686 KLF14 KLF transcription factor 14 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29632379 12173689 TLE6 TLE family member 6, subcortical maternal complex member gene DOID:630 genetic disease ISO RGD:1343822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173689 TLE6 TLE family member 6, subcortical maternal complex member gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12173689 TLE6 TLE family member 6, subcortical maternal complex member gene DOID:9006818 Oocyte/Zygote/Embryo Maturation Arrest 15 ISO RGD:1343822 D RGD:7240710 20190315 OMIM 12173689 TLE6 TLE family member 6, subcortical maternal complex member gene DOID:9006818 Oocyte/Zygote/Embryo Maturation Arrest 15 ISO RGD:1343822 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Preimplantation embryonic lethality 1 PMID:25741868|PMID:26537248|PMID:36271123 12173707 SLC25A30 solute carrier family 25 member 30 gene DOID:630 genetic disease ISO RGD:1606937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173707 SLC25A30 solute carrier family 25 member 30 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12173729 FAM227A family with sequence similarity 227 member A gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:6767369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12173729 FAM227A family with sequence similarity 227 member A gene DOID:0090036 myoclonic dystonia 26 ISO RGD:6767369 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12173729 FAM227A family with sequence similarity 227 member A gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:6767369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12173729 FAM227A family with sequence similarity 227 member A gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:6767369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12173729 FAM227A family with sequence similarity 227 member A gene DOID:630 genetic disease ISO RGD:6767369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173760 STX3 syntaxin 3 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:732917 D RGD:9068941 20200609 RGD PMID:26216965|REF_RGD_ID:11532386 12173760 STX3 syntaxin 3 gene DOID:0110139 Bardet-Biedl syndrome 17 ISO RGD:732917 D RGD:9068941 20200609 RGD protein:increased expression:photoreceptor outer segment layer PMID:26216965|REF_RGD_ID:11532386 12173760 STX3 syntaxin 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12173760 STX3 syntaxin 3 gene DOID:1059 intellectual disability ISO RGD:735349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12173760 STX3 syntaxin 3 gene DOID:630 genetic disease ISO RGD:735349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12173760 STX3 syntaxin 3 gene DOID:9006044 Microvillus Inclusion Disease 2 ISO RGD:735349 D RGD:7240710 20210728 OMIM 12173760 STX3 syntaxin 3 gene DOID:9006044 Microvillus Inclusion Disease 2 ISO RGD:735349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diarrhea 12, with microvillus atrophy PMID:24726755|PMID:28492532|PMID:29282386 12173760 STX3 syntaxin 3 gene DOID:9008564 Retinal Dystrophy and Microvillus Inclusion Disease ISO RGD:735349 D RGD:7240710 20210728 OMIM 12173760 STX3 syntaxin 3 gene DOID:9008564 Retinal Dystrophy and Microvillus Inclusion Disease ISO RGD:735349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE 12173806 MIR665 microRNA mir-665 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:2290240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 12173806 MIR665 microRNA mir-665 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1314242 D RGD:9068941 20220303 RGD PMID:32269632|REF_RGD_ID:151361291 12173806 MIR665 microRNA mir-665 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:2290240 D RGD:9068941 20220303 RGD associated with metastasis; mRNA:increased expression:lung (human) PMID:32269632|REF_RGD_ID:151361291 12173806 MIR665 microRNA mir-665 gene DOID:684 hepatocellular carcinoma ISO RGD:1314242 D RGD:9068941 20220303 RGD PMID:30237408|REF_RGD_ID:151361293 12173806 MIR665 microRNA mir-665 gene DOID:684 hepatocellular carcinoma ISO RGD:2290240 D RGD:9068941 20220303 RGD associated with metastasis; human cells in mouse model PMID:30237408|REF_RGD_ID:151361293 12173806 MIR665 microRNA mir-665 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:2290240 D RGD:9068941 20220303 RGD mRNA:increased expression:liver (human) PMID:30237408|REF_RGD_ID:151361293 12173806 MIR665 microRNA mir-665 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:2290240 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 12173815 LY6G6D lymphocyte antigen 6 family member G6D gene DOID:0050553 JMP syndrome ISO RGD:1354154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12173815 LY6G6D lymphocyte antigen 6 family member G6D gene DOID:11372 megacolon ISO RGD:1354154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12173815 LY6G6D lymphocyte antigen 6 family member G6D gene DOID:630 genetic disease ISO RGD:1354154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173826 FGF2 fibroblast growth factor 2 gene DOID:0002116 pterygium ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:20198298|REF_RGD_ID:8554855 12173826 FGF2 fibroblast growth factor 2 gene DOID:0080001 bone disease ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17066631|REF_RGD_ID:2315858 12173826 FGF2 fibroblast growth factor 2 gene DOID:0080600 COVID-19 severity ISO RGD:70822 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 12173826 FGF2 fibroblast growth factor 2 gene DOID:0080855 Parkinsonism treatment ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:27228974|REF_RGD_ID:13801017 12173826 FGF2 fibroblast growth factor 2 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:70822 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8098714|REF_RGD_ID:2317763 12173826 FGF2 fibroblast growth factor 2 gene DOID:10763 hypertension ISO RGD:2609 D RGD:9068941 20200609 RGD associated with Aortic Coarctation PMID:17562191|REF_RGD_ID:8655614 12173826 FGF2 fibroblast growth factor 2 gene DOID:10808 gastric ulcer treatment ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:9127818|REF_RGD_ID:8655642 12173826 FGF2 fibroblast growth factor 2 gene DOID:10964 cholesteatoma of middle ear ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:11078065|REF_RGD_ID:8547968 12173826 FGF2 fibroblast growth factor 2 gene DOID:11054 urinary bladder cancer ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:11908679|REF_RGD_ID:2290291 12173826 FGF2 fibroblast growth factor 2 gene DOID:11382 corneal neovascularization ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9301478 12173826 FGF2 fibroblast growth factor 2 gene DOID:11382 corneal neovascularization ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:11437330|REF_RGD_ID:8655668 12173826 FGF2 fibroblast growth factor 2 gene DOID:11664 nephrosclerosis ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 12173826 FGF2 fibroblast growth factor 2 gene DOID:11714 gestational diabetes ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20421132 12173826 FGF2 fibroblast growth factor 2 gene DOID:1184 nephrotic syndrome ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21441931 12173826 FGF2 fibroblast growth factor 2 gene DOID:127 leiomyoma disease_progression ISO RGD:70822 D RGD:9068941 20200609 RGD protein:increased expression:uterus PMID:16139411|REF_RGD_ID:2290287 12173826 FGF2 fibroblast growth factor 2 gene DOID:1380 endometrial cancer disease_progression ISO RGD:70822 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myometrium PMID:8685603|REF_RGD_ID:2298516 12173826 FGF2 fibroblast growth factor 2 gene DOID:1561 cognitive disorder ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:17955369|REF_RGD_ID:2315912 12173826 FGF2 fibroblast growth factor 2 gene DOID:1596 depressive disorder ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16861106 12173826 FGF2 fibroblast growth factor 2 gene DOID:1612 breast cancer disease_progression ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:14715109|REF_RGD_ID:8655549 12173826 FGF2 fibroblast growth factor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:70822 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland fluid/secretion PMID:12184408|REF_RGD_ID:8655587 12173826 FGF2 fibroblast growth factor 2 gene DOID:1727 retinal vein occlusion ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:10342378|REF_RGD_ID:8655593 12173826 FGF2 fibroblast growth factor 2 gene DOID:1793 pancreatic cancer ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:12670449|REF_RGD_ID:2317759 12173826 FGF2 fibroblast growth factor 2 gene DOID:1793 pancreatic cancer ISO RGD:70822 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:11562741|REF_RGD_ID:2317760 12173826 FGF2 fibroblast growth factor 2 gene DOID:1793 pancreatic cancer ISO RGD:70822 D RGD:9068941 20200609 RGD protein:increased expression:bile PMID:11478488|REF_RGD_ID:2317765 12173826 FGF2 fibroblast growth factor 2 gene DOID:1793 pancreatic cancer severity ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:9293890|REF_RGD_ID:2317762 12173826 FGF2 fibroblast growth factor 2 gene DOID:1875 impotence ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:15758817|REF_RGD_ID:2315866 12173826 FGF2 fibroblast growth factor 2 gene DOID:2224 essential thrombocythemia ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15682418 12173826 FGF2 fibroblast growth factor 2 gene DOID:2394 ovarian cancer disease_progression ISO RGD:70822 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:14613644|REF_RGD_ID:2290288 12173826 FGF2 fibroblast growth factor 2 gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:14522896|REF_RGD_ID:2290290 12173826 FGF2 fibroblast growth factor 2 gene DOID:2671 transitional cell carcinoma ISO RGD:70822 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:7549793|REF_RGD_ID:2298517 12173826 FGF2 fibroblast growth factor 2 gene DOID:2723 dermatitis ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:16507899|REF_RGD_ID:8554852 12173826 FGF2 fibroblast growth factor 2 gene DOID:2843 long QT syndrome ISO RGD:70822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12173826 FGF2 fibroblast growth factor 2 gene DOID:3070 high grade glioma ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10673511 12173826 FGF2 fibroblast growth factor 2 gene DOID:3213 demyelinating disease ISO RGD:70823 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:11020217|REF_RGD_ID:8655565 12173826 FGF2 fibroblast growth factor 2 gene DOID:3393 coronary artery disease ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:14585103|REF_RGD_ID:2315879 12173826 FGF2 fibroblast growth factor 2 gene DOID:3454 brain infarction ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17524524 12173826 FGF2 fibroblast growth factor 2 gene DOID:3459 breast carcinoma disease_progression ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:8532703|REF_RGD_ID:8655550 12173826 FGF2 fibroblast growth factor 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:18704599|REF_RGD_ID:2317756 12173826 FGF2 fibroblast growth factor 2 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:12717266|REF_RGD_ID:2317758 12173826 FGF2 fibroblast growth factor 2 gene DOID:365 bladder disease ISO RGD:2609 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:urinary bladder PMID:17763394|REF_RGD_ID:2315846 12173826 FGF2 fibroblast growth factor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8952537 12173826 FGF2 fibroblast growth factor 2 gene DOID:4449 macular retinal edema ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;protein:increased expression:aqueous humor PMID:17505145|REF_RGD_ID:8655594 12173826 FGF2 fibroblast growth factor 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:70822 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:1718278|REF_RGD_ID:2290303 12173826 FGF2 fibroblast growth factor 2 gene DOID:4947 cholangiocarcinoma ISO RGD:70822 D RGD:9068941 20200609 RGD protein:increased expression:bile PMID:11478488|REF_RGD_ID:2317765 12173826 FGF2 fibroblast growth factor 2 gene DOID:5041 esophageal cancer ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:29660336|REF_RGD_ID:21409755 12173826 FGF2 fibroblast growth factor 2 gene DOID:5082 liver cirrhosis ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17093919 12173826 FGF2 fibroblast growth factor 2 gene DOID:557 kidney disease ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8995747 12173826 FGF2 fibroblast growth factor 2 gene DOID:5773 oral submucous fibrosis ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 12173826 FGF2 fibroblast growth factor 2 gene DOID:630 genetic disease ISO RGD:70822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173826 FGF2 fibroblast growth factor 2 gene DOID:6432 pulmonary hypertension ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:19197140|REF_RGD_ID:2315911 12173826 FGF2 fibroblast growth factor 2 gene DOID:6432 pulmonary hypertension ISO RGD:70822 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19197140|REF_RGD_ID:2315911 12173826 FGF2 fibroblast growth factor 2 gene DOID:674 cleft palate ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 12173826 FGF2 fibroblast growth factor 2 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023256 12173826 FGF2 fibroblast growth factor 2 gene DOID:823 periapical periodontitis ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16631837 12173826 FGF2 fibroblast growth factor 2 gene DOID:83 cataract ISO RGD:70822 D RGD:9068941 20200609 RGD mRNA:increased expression:lens, epithelial cell PMID:19491954|REF_RGD_ID:8554856 12173826 FGF2 fibroblast growth factor 2 gene DOID:8549 chronic ulcer of skin ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:19638336|REF_RGD_ID:2315843 12173826 FGF2 fibroblast growth factor 2 gene DOID:8717 decubitus ulcer ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:23740668|REF_RGD_ID:8655548 12173826 FGF2 fibroblast growth factor 2 gene DOID:8947 diabetic retinopathy ISO RGD:2609 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:14975211|REF_RGD_ID:2315875 12173826 FGF2 fibroblast growth factor 2 gene DOID:8947 diabetic retinopathy ISO RGD:70822 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:g.754C>G(human) PMID:17997184|REF_RGD_ID:2315845 12173826 FGF2 fibroblast growth factor 2 gene DOID:8947 diabetic retinopathy ISO RGD:70822 D RGD:9068941 20200609 RGD DNA:polymorphism:promotor:g.-553T>A(human) PMID:18279437|REF_RGD_ID:2315844 12173826 FGF2 fibroblast growth factor 2 gene DOID:8947 diabetic retinopathy ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Pregnancy in Diabetics PMID:9141532|REF_RGD_ID:2315885 12173826 FGF2 fibroblast growth factor 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:70822 D RGD:9068941 20200609 RGD protein:increased expression:bile PMID:11478488|REF_RGD_ID:2317765 12173826 FGF2 fibroblast growth factor 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2609 D RGD:9068941 20210122 RGD PMID:24968269|REF_RGD_ID:40924652 12173826 FGF2 fibroblast growth factor 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:70823 D RGD:9068941 20200609 RGD PMID:22407271|REF_RGD_ID:8554853 12173826 FGF2 fibroblast growth factor 2 gene DOID:9000528 Coronary Disease ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:15451784|REF_RGD_ID:2315870 12173826 FGF2 fibroblast growth factor 2 gene DOID:9000808 Hypercholesterolemia ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Carcinoma, Ductal, Breast PMID:15491965|REF_RGD_ID:8655598 12173826 FGF2 fibroblast growth factor 2 gene DOID:9000888 Pregnancy in Diabetics ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:14706681|REF_RGD_ID:2315876 12173826 FGF2 fibroblast growth factor 2 gene DOID:9000918 Disease Progression ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12644816 12173826 FGF2 fibroblast growth factor 2 gene DOID:9000998 Brain Injuries ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21269288 12173826 FGF2 fibroblast growth factor 2 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:10359334|REF_RGD_ID:8655568 12173826 FGF2 fibroblast growth factor 2 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19014962 12173826 FGF2 fibroblast growth factor 2 gene DOID:9001384 Kaposiform Hemangioendothelioma ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:14517397|REF_RGD_ID:8655667 12173826 FGF2 fibroblast growth factor 2 gene DOID:9001472 Nasal Polyps ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:16720444|REF_RGD_ID:8655569 12173826 FGF2 fibroblast growth factor 2 gene DOID:9001553 Spinal Cord Compression ISO RGD:2609 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:17244329|REF_RGD_ID:8655633 12173826 FGF2 fibroblast growth factor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16116963 12173826 FGF2 fibroblast growth factor 2 gene DOID:9001600 Wounds and Injuries ISO RGD:2609 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:12533868|REF_RGD_ID:2292211 12173826 FGF2 fibroblast growth factor 2 gene DOID:9001600 Wounds and Injuries ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11842932 12173826 FGF2 fibroblast growth factor 2 gene DOID:9001600 Wounds and Injuries ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:16008728|REF_RGD_ID:2315863 12173826 FGF2 fibroblast growth factor 2 gene DOID:9001600 Wounds and Injuries treatment ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:23603001|REF_RGD_ID:8655580 12173826 FGF2 fibroblast growth factor 2 gene DOID:9001600 Wounds and Injuries treatment ISO RGD:70823 D RGD:9068941 20200609 RGD PMID:21402405|REF_RGD_ID:8655582 12173826 FGF2 fibroblast growth factor 2 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:9561364|REF_RGD_ID:8554857 12173826 FGF2 fibroblast growth factor 2 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:14975212|PMID:8125754|REF_RGD_ID:8655585|REF_RGD_ID:8655591 12173826 FGF2 fibroblast growth factor 2 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:9183688|REF_RGD_ID:8655640 12173826 FGF2 fibroblast growth factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:70822 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:19279131|REF_RGD_ID:2315842 12173826 FGF2 fibroblast growth factor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12644816 12173826 FGF2 fibroblast growth factor 2 gene DOID:9002514 Neointima ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:8808969|REF_RGD_ID:8655643 12173826 FGF2 fibroblast growth factor 2 gene DOID:9002560 Penetrating Eye Injuries ISO RGD:70823 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:9268592|REF_RGD_ID:8655567 12173826 FGF2 fibroblast growth factor 2 gene DOID:9002589 Bone Fractures ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:8033826|REF_RGD_ID:2315907 12173826 FGF2 fibroblast growth factor 2 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:16507899|REF_RGD_ID:8554852 12173826 FGF2 fibroblast growth factor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:9814819|REF_RGD_ID:9831448 12173826 FGF2 fibroblast growth factor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2609 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:8929896|REF_RGD_ID:8655647 12173826 FGF2 fibroblast growth factor 2 gene DOID:9002955 Nerve Degeneration ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10203697 12173826 FGF2 fibroblast growth factor 2 gene DOID:9003219 Invasive Pulmonary Aspergillosis treatment ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:23303813|REF_RGD_ID:8655596 12173826 FGF2 fibroblast growth factor 2 gene DOID:9003566 Mesothelioma ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15878867 12173826 FGF2 fibroblast growth factor 2 gene DOID:9003936 Cardiomegaly ISO RGD:2609 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:18196276|REF_RGD_ID:2289364 12173826 FGF2 fibroblast growth factor 2 gene DOID:9003936 Cardiomegaly ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10491406 12173826 FGF2 fibroblast growth factor 2 gene DOID:9004009 Reperfusion Injury ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 12173826 FGF2 fibroblast growth factor 2 gene DOID:9004210 Tympanic Membrane Perforation ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:9840508|REF_RGD_ID:8655577 12173826 FGF2 fibroblast growth factor 2 gene DOID:9004210 Tympanic Membrane Perforation disease_progression ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:20015768|REF_RGD_ID:8655595 12173826 FGF2 fibroblast growth factor 2 gene DOID:9004210 Tympanic Membrane Perforation treatment ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:12897558|PMID:8969759|REF_RGD_ID:11554033|REF_RGD_ID:8655592 12173826 FGF2 fibroblast growth factor 2 gene DOID:9004237 Hyperoxic Lung Injury ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:12626345|REF_RGD_ID:11567262 12173826 FGF2 fibroblast growth factor 2 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:70822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:26299366|PMID:28492532 12173826 FGF2 fibroblast growth factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:70822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12173826 FGF2 fibroblast growth factor 2 gene DOID:9005175 Ulcer ISO RGD:2609 D RGD:9068941 20200609 RGD protein:increased expression, alternative forms:mucosa of stomach PMID:21600881|REF_RGD_ID:8655658 12173826 FGF2 fibroblast growth factor 2 gene DOID:9005372 Inflammation ISO RGD:2609 D RGD:9068941 20200609 RGD associated with Diabetic retinopathy;protein:increased expression:retina PMID:19474406|REF_RGD_ID:2315840 12173826 FGF2 fibroblast growth factor 2 gene DOID:9005372 Inflammation ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21087489 12173826 FGF2 fibroblast growth factor 2 gene DOID:9005605 Arteriovenous Fistula ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:10541235|REF_RGD_ID:8655590 12173826 FGF2 fibroblast growth factor 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19014962 12173826 FGF2 fibroblast growth factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:10792180|REF_RGD_ID:8655613 12173826 FGF2 fibroblast growth factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2609 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:12663474|REF_RGD_ID:2315880 12173826 FGF2 fibroblast growth factor 2 gene DOID:9005749 Necrosis treatment ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Ischemia PMID:22924373|REF_RGD_ID:8655615 12173826 FGF2 fibroblast growth factor 2 gene DOID:9006447 Eye Injuries ISO RGD:2609 D RGD:9068941 20200609 RGD protein:increased expression:lens PMID:15273655|REF_RGD_ID:8655664 12173826 FGF2 fibroblast growth factor 2 gene DOID:9006447 Eye Injuries ISO RGD:70823 D RGD:9068941 20200609 RGD PMID:15273655|REF_RGD_ID:8655664 12173826 FGF2 fibroblast growth factor 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12173832|PMID:14583313 12173826 FGF2 fibroblast growth factor 2 gene DOID:9007402 Gliosis ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21087489 12173826 FGF2 fibroblast growth factor 2 gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:70822 D RGD:9068941 20210604 RGD human protein in mouse model PMID:26617350|REF_RGD_ID:126928152 12173826 FGF2 fibroblast growth factor 2 gene DOID:9008091 Optic Nerve Injuries treatment ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:14664816|REF_RGD_ID:8554854 12173826 FGF2 fibroblast growth factor 2 gene DOID:9008763 Femoral Fractures ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:11704499|REF_RGD_ID:11567258 12173826 FGF2 fibroblast growth factor 2 gene DOID:9008861 Wound Infection ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:16008728|REF_RGD_ID:2315863 12173826 FGF2 fibroblast growth factor 2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10646786 12173826 FGF2 fibroblast growth factor 2 gene DOID:9296 cleft lip ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 12173826 FGF2 fibroblast growth factor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:70822 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18279437|REF_RGD_ID:2315844 12173826 FGF2 fibroblast growth factor 2 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Retinal Detachment PMID:9613386|REF_RGD_ID:8655597 12173826 FGF2 fibroblast growth factor 2 gene DOID:9741 biliary tract disease ISO RGD:70822 D RGD:9068941 20200609 RGD protein:increased expression:bile PMID:11478488|REF_RGD_ID:2317765 12173826 FGF2 fibroblast growth factor 2 gene DOID:9743 diabetic neuropathy ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16644707|REF_RGD_ID:2315860 12173826 FGF2 fibroblast growth factor 2 gene DOID:9810 polyarteritis nodosa ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:15965421|REF_RGD_ID:8655581 12173832 DMAC1 distal membrane arm assembly component 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1319327 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12173842 APIP APAF1 interacting protein gene DOID:1059 intellectual disability ISO RGD:1603043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12173842 APIP APAF1 interacting protein gene DOID:630 genetic disease ISO RGD:1603043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173842 APIP APAF1 interacting protein gene DOID:9003678 Pyruvate Dehydrogenase E3-Binding Protein Deficiency ISO RGD:1603043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency 12173853 MYBPC2 myosin binding protein C2 gene DOID:630 genetic disease ISO RGD:1323136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173853 MYBPC2 myosin binding protein C2 gene DOID:9006836 Contracture ISO RGD:1323136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures PMID:26752647 12173885 RB1 RB transcriptional corepressor 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 12173885 RB1 RB transcriptional corepressor 1 gene DOID:0050685 small cell carcinoma ISO RGD:731712 D RGD:7240710 20180130 OMIM 12173885 RB1 RB transcriptional corepressor 1 gene DOID:0050804 glioblastoma proneural subtype ISO RGD:731712 D RGD:9068941 20200609 RGD RNA:decreased expression:brain: PMID:22157621|REF_RGD_ID:13782062 12173885 RB1 RB transcriptional corepressor 1 gene DOID:0050902 medulloblastoma ISO RGD:731712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:25741868|PMID:28492532 12173885 RB1 RB transcriptional corepressor 1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:731712 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:breast PMID:15312366|REF_RGD_ID:2299890 12173885 RB1 RB transcriptional corepressor 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:731712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12173885 RB1 RB transcriptional corepressor 1 gene DOID:0070275 hereditary nonpolyposis colorectal cancer type 4 ISO RGD:731712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 4 PMID:12541220|PMID:14722923|PMID:15884040|PMID:16199547|PMID:16343894|PMID:17096365|PMID:28492532|PMID:7795591 12173885 RB1 RB transcriptional corepressor 1 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:11219 D RGD:9068941 20200609 RGD PMID:24177421|REF_RGD_ID:8547979 12173885 RB1 RB transcriptional corepressor 1 gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:731712 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:17301081|PMID:26475597|PMID:28492532 12173885 RB1 RB transcriptional corepressor 1 gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:731712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:25741868 12173885 RB1 RB transcriptional corepressor 1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:731712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified PMID:25741868|PMID:28492532 12173885 RB1 RB transcriptional corepressor 1 gene DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 ISO RGD:731712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 PMID:25741868|PMID:28492532 12173885 RB1 RB transcriptional corepressor 1 gene DOID:0110705 hypotrichosis 8 ISO RGD:731712 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypotrichosis 8 PMID:18297070|PMID:18297072|PMID:18461368|PMID:21070332|PMID:21426374|PMID:25119526|PMID:25741868 12173885 RB1 RB transcriptional corepressor 1 gene DOID:10283 prostate cancer ISO RGD:731712 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity PMID:18383208|REF_RGD_ID:2299887 12173885 RB1 RB transcriptional corepressor 1 gene DOID:1059 intellectual disability ISO RGD:731712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12173885 RB1 RB transcriptional corepressor 1 gene DOID:11054 urinary bladder cancer ISO RGD:731712 D RGD:7240710 20180130 OMIM 12173885 RB1 RB transcriptional corepressor 1 gene DOID:11054 urinary bladder cancer ISO RGD:731712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer PMID:10486322|PMID:10966849|PMID:12541220|PMID:1352883|PMID:15643604|PMID:15884040|PMID:16199547|PMID:16269091|PMID:16449662|PMID:17096365|PMID:18677112|PMID:18682685|PMID:20041224|PMID:2181449|PMID:22703879|PMID:23532519|PMID:24082139|PMID:24225018|PMID:24448499|PMID:24688104|PMID:25741868|PMID:26925970|PMID:28492532|PMID:28575107|PMID:28724667|PMID:28873162|PMID:7881418|PMID:9632788|PMID:9671401 12173885 RB1 RB transcriptional corepressor 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731712 D RGD:9068941 20200609 RGD PMID:17026804|REF_RGD_ID:2299888 12173885 RB1 RB transcriptional corepressor 1 gene DOID:14566 disease of cellular proliferation ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:12173465|PMID:16463005|PMID:17096365|PMID:21763628|PMID:22963398|PMID:24688104|PMID:25157968|PMID:25602518|PMID:25741868|PMID:2594029|PMID:28492532|PMID:30031154|PMID:33456302|PMID:7704558|PMID:8346255|PMID:8605116|PMID:8651278|PMID:9400934 12173885 RB1 RB transcriptional corepressor 1 gene DOID:1749 squamous cell carcinoma ISO RGD:731712 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 12173885 RB1 RB transcriptional corepressor 1 gene DOID:1793 pancreatic cancer ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21699781 12173885 RB1 RB transcriptional corepressor 1 gene DOID:2316 brain ischemia ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17901229 12173885 RB1 RB transcriptional corepressor 1 gene DOID:2394 ovarian cancer ISO RGD:731712 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:12541220|PMID:16269091|PMID:22703879|PMID:24082139|PMID:24448499|PMID:24688104|PMID:24728327|PMID:24791139|PMID:25741868|PMID:28492532|PMID:32091409|PMID:34190019|PMID:34680218 12173885 RB1 RB transcriptional corepressor 1 gene DOID:2513 basal cell carcinoma ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 12173885 RB1 RB transcriptional corepressor 1 gene DOID:3021 acute kidney failure ISO RGD:3540 D RGD:9068941 20200609 RGD associated with Sepsis;protein:increased phosphorylation:kidney PMID:19428114|REF_RGD_ID:8547990 12173885 RB1 RB transcriptional corepressor 1 gene DOID:305 carcinoma ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14522882 12173885 RB1 RB transcriptional corepressor 1 gene DOID:3068 glioblastoma severity ISO RGD:731712 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:11204276|REF_RGD_ID:13782067 12173885 RB1 RB transcriptional corepressor 1 gene DOID:3181 oligodendroglioma disease_progression ISO RGD:731712 D RGD:9068941 20200609 RGD PMID:15970925|REF_RGD_ID:13782064 12173885 RB1 RB transcriptional corepressor 1 gene DOID:3308 embryonal carcinoma ISO RGD:731712 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:12754735|REF_RGD_ID:2299891 12173885 RB1 RB transcriptional corepressor 1 gene DOID:3347 osteosarcoma ISO RGD:731712 D RGD:7240710 20180130 OMIM 12173885 RB1 RB transcriptional corepressor 1 gene DOID:3347 osteosarcoma ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteosarcoma, somatic PMID:10486322|PMID:10966849|PMID:12541220|PMID:1352883|PMID:15643604|PMID:16269091|PMID:16449662|PMID:17096365|PMID:18677112|PMID:18682685|PMID:20041224|PMID:23532519|PMID:24225018|PMID:24688104|PMID:25741868|PMID:26925970|PMID:28492532|PMID:28575107|PMID:28724667|PMID:28873162|PMID:7881418|PMID:9632788|PMID:9671401 12173885 RB1 RB transcriptional corepressor 1 gene DOID:3376 bone osteosarcoma ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:10486322|PMID:10966849|PMID:12541220|PMID:12955724|PMID:1352883|PMID:14722923|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15884040|PMID:16269091|PMID:16449662|PMID:16463005|PMID:17096365|PMID:17960112|PMID:18677112|PMID:18682685|PMID:20041224|PMID:20447117|PMID:22205104|PMID:22328814|PMID:22963398|PMID:23532519|PMID:24225018|PMID:24688104|PMID:24791139|PMID:25741868|PMID:25754945|PMID:25758528|PMID:2594029|PMID:2601691|PMID:26396485|PMID:26580448|PMID:26787237|PMID:26925970|PMID:27582626|PMID:27983729|PMID:28492532|PMID:28575107|PMID:28724667|PMID:28873162|PMID:29261756|PMID:30031154|PMID:32218800|PMID:33493472|PMID:34294096|PMID:7881418|PMID:9311732|PMID:9632788|PMID:9671401|PMID:9973307 12173885 RB1 RB transcriptional corepressor 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 12173885 RB1 RB transcriptional corepressor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16862215 12173885 RB1 RB transcriptional corepressor 1 gene DOID:3910 lung adenocarcinoma ISO RGD:731712 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 12173885 RB1 RB transcriptional corepressor 1 gene DOID:3948 adrenocortical carcinoma ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747642 12173885 RB1 RB transcriptional corepressor 1 gene DOID:4440 seminoma ISO RGD:731712 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:12754735|REF_RGD_ID:2299891 12173885 RB1 RB transcriptional corepressor 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:731712 D RGD:9068941 20200609 RGD PMID:11549509|REF_RGD_ID:2299893 12173885 RB1 RB transcriptional corepressor 1 gene DOID:4647 trilateral retinoblastoma ISO RGD:731712 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Trilateral retinoblastoma PMID:16463005|PMID:17096365|PMID:21763628|PMID:22963398|PMID:24688104|PMID:25157968|PMID:25602518|PMID:25741868|PMID:28492532|PMID:30031154|PMID:33456302|PMID:7704558|PMID:8346255|PMID:8605116|PMID:9400934 12173885 RB1 RB transcriptional corepressor 1 gene DOID:4648 familial retinoblastoma ISO RGD:731712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary retinoblastoma PMID:10486322|PMID:10617920|PMID:10671068|PMID:11668642|PMID:12541220|PMID:15884040|PMID:16269091|PMID:17576681|PMID:18449911|PMID:18677112|PMID:22084214|PMID:25741868|PMID:25754945|PMID:28492532|PMID:7881418|PMID:8346255|PMID:8605116|PMID:8651278|PMID:9536098|PMID:9671401 12173885 RB1 RB transcriptional corepressor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma PMID:10486322|PMID:10966849|PMID:12541220|PMID:1352883|PMID:15643604|PMID:16269091|PMID:16449662|PMID:17096365|PMID:18677112|PMID:18682685|PMID:20041224|PMID:23532519|PMID:24225018|PMID:24688104|PMID:25157968|PMID:25741868|PMID:2594029|PMID:26925970|PMID:28492532|PMID:28575107|PMID:28724667|PMID:28873162|PMID:7881418|PMID:9632788|PMID:9671401 12173885 RB1 RB transcriptional corepressor 1 gene DOID:5411 lung oat cell carcinoma ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung oat cell carcinoma PMID:10486322|PMID:10966849|PMID:12541220|PMID:1352883|PMID:15643604|PMID:16269091|PMID:16449662|PMID:17096365|PMID:18677112|PMID:18682685|PMID:20041224|PMID:23532519|PMID:24225018|PMID:24688104|PMID:25741868|PMID:26925970|PMID:28492532|PMID:28575107|PMID:28724667|PMID:28873162|PMID:7881418|PMID:9632788|PMID:9671401 12173885 RB1 RB transcriptional corepressor 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:731712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:31775759 12173885 RB1 RB transcriptional corepressor 1 gene DOID:630 genetic disease ISO RGD:731712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173885 RB1 RB transcriptional corepressor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:731712 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 12173885 RB1 RB transcriptional corepressor 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:3540 D RGD:9068941 20220714 RGD PMID:33841550|REF_RGD_ID:152998960 12173885 RB1 RB transcriptional corepressor 1 gene DOID:768 retinoblastoma ISO RGD:731712 D RGD:7240710 20180130 OMIM 12173885 RB1 RB transcriptional corepressor 1 gene DOID:768 retinoblastoma ISO RGD:731712 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10882758|PMID:10966849|PMID:10991691|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11480772|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352883|PMID:14722923|PMID:15166261|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15877282|PMID:15884040|PMID:16127685|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16595082|PMID:1662795|PMID:16988938|PMID:17096365|PMID:17299438|PMID:17301081|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19339519|PMID:19491728|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20447117|PMID:20594292|PMID:20596833|PMID:21505449|PMID:21520333|PMID:21538077|PMID:21615945|PMID:21654082|PMID:21763628|PMID:2181449|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22703879|PMID:22909775|PMID:22963398|PMID:23301675|PMID:23532519|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24336570|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:24888624|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25640679|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26475597|PMID:26530098|PMID:26539030|PMID:26580448|PMID:2673542|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27155049|PMID:27283993|PMID:2748600|PMID:27582626|PMID:27854218|PMID:27879208|PMID:27983729|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28580595|PMID:28606269|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29261756|PMID:29316426|PMID:29568217|PMID:29607586|PMID:29662154|PMID:30031154|PMID:30181556|PMID:30192042|PMID:31106028|PMID:31568710|PMID:31645765|PMID:33225895|PMID:33456302|PMID:33493472|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7981694|PMID:8099255|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8776589|PMID:9311732|PMID:9341870|PMID:9400934|PMID:9536098|PMID:9632788|PMID:9639842|PMID:9671401|PMID:9973307 12173885 RB1 RB transcriptional corepressor 1 gene DOID:768 retinoblastoma ISO RGD:731712 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10882758|PMID:10966849|PMID:10991691|PMID:11189328|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11480772|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352398|PMID:1352883|PMID:14516425|PMID:14722923|PMID:14769601|PMID:15166261|PMID:1534305|PMID:15591264|PMID:15605413|PMID:15643604|PMID:1577465|PMID:15776430|PMID:15884040|PMID:16127685|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16595082|PMID:1662795|PMID:16988938|PMID:17096365|PMID:17299438|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19339519|PMID:19390654|PMID:19491728|PMID:19763152|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20307669|PMID:20447117|PMID:20594292|PMID:20596833|PMID:20808897|PMID:21402997|PMID:21505449|PMID:21520333|PMID:21538077|PMID:21615945|PMID:21654082|PMID:21763628|PMID:2181449|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22406018|PMID:22703879|PMID:22744425|PMID:22909775|PMID:22963398|PMID:23301675|PMID:23474753|PMID:23532519|PMID:23595191|PMID:23820649|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24336570|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:24810223|PMID:24888624|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25640679|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26530098|PMID:26539030|PMID:26580448|PMID:2673542|PMID:26747767|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27155049|PMID:27283993|PMID:2748600|PMID:27582626|PMID:27854218|PMID:27879208|PMID:27906792|PMID:27983729|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28580595|PMID:28606269|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29192238|PMID:29261756|PMID:29316426|PMID:29453956|PMID:29568217|PMID:29607586|PMID:29625052|PMID:29641532|PMID:29662154|PMID:29684080|PMID:30031154|PMID:30181556|PMID:30636860|PMID:30773851|PMID:30842500|PMID:31106028|PMID:31568710|PMID:31645765|PMID:31772335|PMID:32091409|PMID:32218800|PMID:32974172|PMID:33225895|PMID:33456302|PMID:33493472|PMID:33606809|PMID:34190019|PMID:34294096|PMID:34308366|PMID:34680218|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7927327|PMID:7981694|PMID:8099255|PMID:8118465|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8756645|PMID:8776589|PMID:9311732|PMID:9341870|PMID:9400934|PMID:9495340|PMID:9536098|PMID:9632788|PMID:9639842|PMID:9671401|PMID:9973307 12173885 RB1 RB transcriptional corepressor 1 gene DOID:8541 Sezary's disease ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 12173885 RB1 RB transcriptional corepressor 1 gene DOID:8719 in situ carcinoma ISO RGD:731712 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:12754735|REF_RGD_ID:2299891 12173885 RB1 RB transcriptional corepressor 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:731712 D RGD:9068941 20200609 RGD associated with Adenocarcinoma PMID:18234283|REF_RGD_ID:2299896 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747643 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:11219 D RGD:9068941 20200609 RGD PMID:21364977|REF_RGD_ID:8547983 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14522882 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9000647 Acute Erythroleukemia ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27137931 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9001083 Autosomal Recessive Woolly Hair ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Woolly hair, autosomal recessive 1, with or without hypotrichosis PMID:18297072|PMID:18461368|PMID:21426374|PMID:25741868 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17854601 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27137931 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9002234 Pituitary Neoplasms ISO RGD:3540 D RGD:9068941 20200609 RGD PMID:10022766|REF_RGD_ID:8547989 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:731712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian neoplasm PMID:25741868|PMID:28492532 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:731712 D RGD:9068941 20200609 RGD PMID:17242700|REF_RGD_ID:2296051 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:11219 D RGD:9068941 20200609 RGD PMID:16510568|REF_RGD_ID:2299895 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:731712 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17047088|REF_RGD_ID:2299894 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9003936 Cardiomegaly ISO RGD:11219 D RGD:9068941 20200609 RGD PMID:18420946|REF_RGD_ID:9686423 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9004240 Phyllodes Tumor severity ISO RGD:731712 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15981808|REF_RGD_ID:2299889 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14522882 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731712 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10966849|PMID:10991691|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352883|PMID:14722923|PMID:14769601|PMID:15166261|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15884040|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16972022|PMID:17096365|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19491728|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20447117|PMID:20594292|PMID:20596833|PMID:21520333|PMID:21763628|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22703879|PMID:22963398|PMID:23532519|PMID:23826078|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26530098|PMID:26580448|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27283993|PMID:2748600|PMID:27582626|PMID:27854218|PMID:27983729|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29261756|PMID:29316426|PMID:29568217|PMID:29607586|PMID:30031154|PMID:30181556|PMID:31645765|PMID:32218800|PMID:33456302|PMID:33493472|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7981694|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8776589|PMID:9311732|PMID:9400934|PMID:9536098|PMID:9632788|PMID:9671401|PMID:9973307 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731712 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10966849|PMID:10991691|PMID:11189328|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352883|PMID:14722923|PMID:14769601|PMID:15166261|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15884040|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16682285|PMID:16972022|PMID:17096365|PMID:17299438|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19390654|PMID:19491728|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20447117|PMID:20594292|PMID:20596833|PMID:21402997|PMID:21520333|PMID:21763628|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22703879|PMID:22729126|PMID:22744425|PMID:22963398|PMID:23301675|PMID:23474753|PMID:23532519|PMID:23820649|PMID:23826078|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26530098|PMID:26580448|PMID:26747767|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27283993|PMID:2748600|PMID:27582626|PMID:27712844|PMID:27854218|PMID:27906792|PMID:27983729|PMID:28137276|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28580595|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29192238|PMID:29261756|PMID:29316426|PMID:29453956|PMID:29568217|PMID:29607586|PMID:29625052|PMID:29641532|PMID:29662154|PMID:29684080|PMID:30031154|PMID:30181556|PMID:30636860|PMID:30842500|PMID:31106028|PMID:31568710|PMID:31645765|PMID:31772335|PMID:32091409|PMID:32218800|PMID:32974172|PMID:33456302|PMID:33493472|PMID:34190019|PMID:34294096|PMID:34680218|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7981694|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8776589|PMID:9311732|PMID:9341870|PMID:9400934|PMID:9536098|PMID:9632788|PMID:9671401|PMID:9973307 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10966849|PMID:10991691|PMID:11189328|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352883|PMID:14722923|PMID:14769601|PMID:15166261|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15884040|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16682285|PMID:16972022|PMID:17096365|PMID:17299438|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19390654|PMID:19491728|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20447117|PMID:20594292|PMID:20596833|PMID:21402997|PMID:21520333|PMID:21763628|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22703879|PMID:22729126|PMID:22744425|PMID:22963398|PMID:23301675|PMID:23474753|PMID:23532519|PMID:23820649|PMID:23826078|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26530098|PMID:26580448|PMID:26747767|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27283993|PMID:2748600|PMID:27582626|PMID:27712844|PMID:27854218|PMID:27906792|PMID:27983729|PMID:28137276|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28580595|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29192238|PMID:29261756|PMID:29316426|PMID:29453956|PMID:29568217|PMID:29607586|PMID:29625052|PMID:29641532|PMID:29684080|PMID:30031154|PMID:30181556|PMID:30636860|PMID:30773851|PMID:30842500|PMID:31106028|PMID:31568710|PMID:31645765|PMID:31772335|PMID:32091409|PMID:32218800|PMID:32974172|PMID:33456302|PMID:33493472|PMID:34190019|PMID:34294096|PMID:34680218|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7981694|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8776589|PMID:9311732|PMID:9341870|PMID:9400934|PMID:9536098|PMID:9632788|PMID:9671401|PMID:9973307 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731712 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10966849|PMID:10991691|PMID:11189328|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352883|PMID:14722923|PMID:14769601|PMID:15166261|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15884040|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16595082|PMID:16682285|PMID:16972022|PMID:17096365|PMID:17299438|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19390654|PMID:19491728|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20447117|PMID:20594292|PMID:20596833|PMID:20808897|PMID:21402997|PMID:21520333|PMID:21763628|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22703879|PMID:22729126|PMID:22744425|PMID:22963398|PMID:23301675|PMID:23474753|PMID:23532519|PMID:23595191|PMID:23820649|PMID:23826078|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:24810223|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26530098|PMID:26539030|PMID:26580448|PMID:26747767|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27155049|PMID:27283993|PMID:2748600|PMID:27582626|PMID:27712844|PMID:27906792|PMID:27983729|PMID:28137276|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28580595|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29192238|PMID:29261756|PMID:29316426|PMID:29453956|PMID:29568217|PMID:29607586|PMID:29625052|PMID:29641532|PMID:29662154|PMID:29684080|PMID:30031154|PMID:30181556|PMID:30636860|PMID:30773851|PMID:30842500|PMID:31106028|PMID:31568710|PMID:31645765|PMID:31772335|PMID:32091409|PMID:32218800|PMID:32974172|PMID:33456302|PMID:33493472|PMID:34190019|PMID:34294096|PMID:34680218|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7981694|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8776589|PMID:9311732|PMID:9341870|PMID:9400934|PMID:9536098|PMID:9632788|PMID:9671401|PMID:9973307 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731712 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10966849|PMID:10991691|PMID:11189328|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352883|PMID:14722923|PMID:14769601|PMID:15166261|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15884040|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16595082|PMID:16682285|PMID:16972022|PMID:17096365|PMID:17299438|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19390654|PMID:19491728|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20447117|PMID:20594292|PMID:20596833|PMID:20808897|PMID:21402997|PMID:21520333|PMID:21763628|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22703879|PMID:22729126|PMID:22744425|PMID:22963398|PMID:23301675|PMID:23474753|PMID:23532519|PMID:23595191|PMID:23820649|PMID:23826078|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:24810223|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26530098|PMID:26539030|PMID:26580448|PMID:26747767|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27155049|PMID:27283993|PMID:2748600|PMID:27582626|PMID:27712844|PMID:27854218|PMID:27906792|PMID:27983729|PMID:28137276|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28580595|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29192238|PMID:29261756|PMID:29316426|PMID:29453956|PMID:29568217|PMID:29607586|PMID:29625052|PMID:29641532|PMID:29662154|PMID:29684080|PMID:30031154|PMID:30181556|PMID:30636860|PMID:30773851|PMID:30842500|PMID:31106028|PMID:31568710|PMID:31645765|PMID:31772335|PMID:32091409|PMID:32218800|PMID:32974172|PMID:33456302|PMID:33493472|PMID:33606809|PMID:34190019|PMID:34294096|PMID:34680218|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7981694|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8776589|PMID:9311732|PMID:9341870|PMID:9400934|PMID:9536098|PMID:9632788|PMID:9671401|PMID:9973307 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9007692 Insulin Resistance ISO RGD:731712 D RGD:9068941 20200609 RGD mRNA:decreased expression:adipose tissue PMID:23315497|REF_RGD_ID:8547988 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:731712 D RGD:9068941 20200609 RGD PMID:14648178|REF_RGD_ID:2299055 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14672398|PMID:19234134|PMID:20948315 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:731712 D RGD:9068941 20200609 RGD allelic loss PMID:11108660|REF_RGD_ID:2291991 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:731712 D RGD:9068941 20200609 RGD PMID:1567185|REF_RGD_ID:9698451 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:10486322|PMID:10966849|PMID:12541220|PMID:1352883|PMID:15643604|PMID:16269091|PMID:16449662|PMID:17096365|PMID:18677112|PMID:18682685|PMID:20041224|PMID:23532519|PMID:24225018|PMID:24688104|PMID:25741868|PMID:26925970|PMID:28492532|PMID:28575107|PMID:28724667|PMID:28873162|PMID:7881418|PMID:9632788|PMID:9671401 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334668 12173885 RB1 RB transcriptional corepressor 1 gene DOID:9970 obesity ISO RGD:731712 D RGD:9068941 20200609 RGD mRNA:decreased expression:adipose tissue PMID:23315497|REF_RGD_ID:8547988 12173915 CERS5 ceramide synthase 5 gene DOID:630 genetic disease ISO RGD:1323138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173937 GSTO1 glutathione S-transferase omega 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1345331 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12173937 GSTO1 glutathione S-transferase omega 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1345331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12173937 GSTO1 glutathione S-transferase omega 1 gene DOID:0080600 COVID-19 ISO RGD:1345331 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12173937 GSTO1 glutathione S-transferase omega 1 gene DOID:10652 Alzheimer's disease no_association ISO RGD:1345331 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p. A140D (rs4925) (human) PMID:15917099|REF_RGD_ID:5490514 12173937 GSTO1 glutathione S-transferase omega 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:1345331 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p. A140D (rs4925) (human) PMID:14570706|REF_RGD_ID:1358651 12173937 GSTO1 glutathione S-transferase omega 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1345331 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p. A140D (rs4925) (human) PMID:20818931|REF_RGD_ID:5490521 12173937 GSTO1 glutathione S-transferase omega 1 gene DOID:1240 leukemia ISO RGD:1345331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22293942 12173937 GSTO1 glutathione S-transferase omega 1 gene DOID:1289 neurodegenerative disease ISO RGD:1345331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 12173937 GSTO1 glutathione S-transferase omega 1 gene DOID:14330 Parkinson's disease onset ISO RGD:1345331 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p. A140D (rs4925) (human) PMID:14570706|REF_RGD_ID:1358651 12173937 GSTO1 glutathione S-transferase omega 1 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1345331 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p. A140D (rs4925) (human) PMID:17194543|REF_RGD_ID:5490299 12173937 GSTO1 glutathione S-transferase omega 1 gene DOID:14566 disease of cellular proliferation ISO RGD:1345331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21899313 12173937 GSTO1 glutathione S-transferase omega 1 gene DOID:37 skin disease ISO RGD:1345331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17548696 12173937 GSTO1 glutathione S-transferase omega 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1345331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12173937 GSTO1 glutathione S-transferase omega 1 gene DOID:630 genetic disease ISO RGD:1345331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12173937 GSTO1 glutathione S-transferase omega 1 gene DOID:850 lung disease ISO RGD:1345331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22293942 12173937 GSTO1 glutathione S-transferase omega 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12173937 GSTO1 glutathione S-transferase omega 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12173937 GSTO1 glutathione S-transferase omega 1 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:1345331 D RGD:9068941 20200609 RGD protein:decreased expression;T lymphocyte: PMID:21410266|REF_RGD_ID:5491008 12173947 PUM1 pumilio RNA binding family member 1 gene DOID:0050952 spastic ataxia ISO RGD:1316232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 12173947 PUM1 pumilio RNA binding family member 1 gene DOID:0111743 cerebellar ataxia type 47 ISO RGD:1316232 D RGD:7240710 20190315 OMIM 12173947 PUM1 pumilio RNA binding family member 1 gene DOID:0111743 cerebellar ataxia type 47 ISO RGD:1316232 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 47 PMID:25741868|PMID:29474920|PMID:30903679|PMID:31859446 12173947 PUM1 pumilio RNA binding family member 1 gene DOID:1059 intellectual disability ISO RGD:1316232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12173947 PUM1 pumilio RNA binding family member 1 gene DOID:1826 epilepsy ISO RGD:1316232 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12173947 PUM1 pumilio RNA binding family member 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 12173947 PUM1 pumilio RNA binding family member 1 gene DOID:630 genetic disease ISO RGD:1316232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:29474920|PMID:30903679|PMID:31859446 12173947 PUM1 pumilio RNA binding family member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12173947 PUM1 pumilio RNA binding family member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1316232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12173947 PUM1 pumilio RNA binding family member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1316232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12173992 COX20 cytochrome c oxidase assembly factor COX20 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1319259 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12173992 COX20 cytochrome c oxidase assembly factor COX20 gene DOID:1540 parathyroid carcinoma ISO RGD:1319259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12173992 COX20 cytochrome c oxidase assembly factor COX20 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1319259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:17576681|PMID:25741868|PMID:28492532|PMID:30656193|PMID:32827528|PMID:9536098 12173992 COX20 cytochrome c oxidase assembly factor COX20 gene DOID:630 genetic disease ISO RGD:1319259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12173992 COX20 cytochrome c oxidase assembly factor COX20 gene DOID:9000374 Mitochondrial Complex IV Deficiency, Nuclear Type 11 ISO RGD:1319259 D RGD:7240710 20201111 OMIM 12173992 COX20 cytochrome c oxidase assembly factor COX20 gene DOID:9000374 Mitochondrial Complex IV Deficiency, Nuclear Type 11 ISO RGD:1319259 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 PMID:17576681|PMID:23125284|PMID:24202787|PMID:25741868|PMID:28492532|PMID:30656193|PMID:31079202|PMID:32827528|PMID:33751098|PMID:36136859|PMID:9536098 12173992 COX20 cytochrome c oxidase assembly factor COX20 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1319259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 12173992 COX20 cytochrome c oxidase assembly factor COX20 gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:1319259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:17576681|PMID:25741868|PMID:28492532|PMID:30656193|PMID:32827528|PMID:9536098 12173992 COX20 cytochrome c oxidase assembly factor COX20 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12174000 TTLL6 tubulin tyrosine ligase like 6 gene DOID:630 genetic disease ISO RGD:1605245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12174019 DHX40 DEAH-box helicase 40 gene DOID:0050777 Joubert syndrome ISO RGD:1350869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12174019 DHX40 DEAH-box helicase 40 gene DOID:630 genetic disease ISO RGD:1350869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12174041 CNOT4 CCR4-NOT transcription complex subunit 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12174041 CNOT4 CCR4-NOT transcription complex subunit 4 gene DOID:630 genetic disease ISO RGD:1321153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12174068 TUFT1 tuftelin 1 gene DOID:0080422 Dravet syndrome ISO RGD:1321243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 12174068 TUFT1 tuftelin 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1321243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12174068 TUFT1 tuftelin 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1321243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12174068 TUFT1 tuftelin 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1321243 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12174068 TUFT1 tuftelin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1321243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12174068 TUFT1 tuftelin 1 gene DOID:5812 MHC class II deficiency ISO RGD:1321243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12174068 TUFT1 tuftelin 1 gene DOID:630 genetic disease ISO RGD:1321243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12174068 TUFT1 tuftelin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12174088 GLI3 GLI family zinc finger 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:620272 D RGD:9068941 20211105 RGD PMID:30537251|REF_RGD_ID:150520178 12174088 GLI3 GLI family zinc finger 3 gene DOID:0070067 White-Sutton syndrome ISO RGD:1314553 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome PMID:25741868 12174088 GLI3 GLI family zinc finger 3 gene DOID:0080074 neural tube defect ISO RGD:1314553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16359493 12174088 GLI3 GLI family zinc finger 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1314553 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:19829694|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9302279 12174088 GLI3 GLI family zinc finger 3 gene DOID:10892 hypospadias ISO RGD:620272 D RGD:9068941 20200609 RGD mRNA:decreased expression:male genital tubercle PMID:27079746|REF_RGD_ID:12743602 12174088 GLI3 GLI family zinc finger 3 gene DOID:11193 syndactyly ISO RGD:1314553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: polysyndactyly 12174088 GLI3 GLI family zinc finger 3 gene DOID:1148 polydactyly ISO RGD:1314553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperdactyly | ClinVar Annotator: match by term: Polydactylism | ClinVar Annotator: match by term: Polydactyly PMID:10441570|PMID:25741868|PMID:28492532 12174088 GLI3 GLI family zinc finger 3 gene DOID:11836 clubfoot ISO RGD:620272 D RGD:9068941 20200609 RGD PMID:19925654|REF_RGD_ID:12738235 12174088 GLI3 GLI family zinc finger 3 gene DOID:13714 anodontia ISO RGD:1314553 D RGD:9068941 20200609 RGD DNA:SNP: :rs929387 (human) PMID:22984994|REF_RGD_ID:12738234 12174088 GLI3 GLI family zinc finger 3 gene DOID:14679 VACTERL association ISO RGD:1314554 D RGD:9068941 20230105 RGD PMID:11172440|REF_RGD_ID:155791680 12174088 GLI3 GLI family zinc finger 3 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1314553 D RGD:7240710 20180130 OMIM 12174088 GLI3 GLI family zinc finger 3 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1314553 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome | ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome, severe | ClinVar Annotator: match by term: Polysyndactyly with peculiar skull shape PMID:10441342|PMID:10441570|PMID:10678662|PMID:12414818|PMID:12794692|PMID:15739154|PMID:15811011|PMID:16199547|PMID:16740916|PMID:17576681|PMID:18000979|PMID:18435847|PMID:1879832|PMID:19829694|PMID:20583172|PMID:20672375|PMID:22903559|PMID:24736735|PMID:25606469|PMID:25640679|PMID:25741868|PMID:26508445|PMID:27231705|PMID:28166811|PMID:28224613|PMID:28492532|PMID:29236091|PMID:30235038|PMID:30773290|PMID:32591344|PMID:33304378|PMID:34906502|PMID:6641002|PMID:9302279|PMID:9536098 12174088 GLI3 GLI family zinc finger 3 gene DOID:1923 disorder of sexual development ISO RGD:1314553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 12174088 GLI3 GLI family zinc finger 3 gene DOID:3263 piebaldism ISO RGD:1314554 D RGD:9068941 20200609 RGD PMID:18397875|REF_RGD_ID:12738207 12174088 GLI3 GLI family zinc finger 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1314553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia 12174088 GLI3 GLI family zinc finger 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12174088 GLI3 GLI family zinc finger 3 gene DOID:5082 liver cirrhosis ISO RGD:1314553 D RGD:9068941 20230105 RGD mRNA:increased expression:serum: PMID:32319630|REF_RGD_ID:155791681 12174088 GLI3 GLI family zinc finger 3 gene DOID:6225 Cronkhite-Canada syndrome ISO RGD:1314553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cronkhite-Canada syndrome 12174088 GLI3 GLI family zinc finger 3 gene DOID:630 genetic disease ISO RGD:1314553 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15739154|PMID:25741868|PMID:28492532 12174088 GLI3 GLI family zinc finger 3 gene DOID:674 cleft palate ISO RGD:1314554 D RGD:9068941 20200609 RGD PMID:18816854|REF_RGD_ID:12738224 12174088 GLI3 GLI family zinc finger 3 gene DOID:687 hepatoblastoma ISO RGD:1314553 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:28492532 12174088 GLI3 GLI family zinc finger 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1314553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24816253 12174088 GLI3 GLI family zinc finger 3 gene DOID:9001471 Anorectal Malformations ISO RGD:620272 D RGD:9068941 20200609 RGD mRNA:decreased expression:rectum PMID:27079746|REF_RGD_ID:12743602 12174088 GLI3 GLI family zinc finger 3 gene DOID:9001471 Anorectal Malformations ISO RGD:620272 D RGD:9068941 20230107 RGD mRNA:decreased expression:terminal rectum PMID:25213187|REF_RGD_ID:155791683 12174088 GLI3 GLI family zinc finger 3 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1314553 D RGD:7240710 20180130 OMIM 12174088 GLI3 GLI family zinc finger 3 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1314553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GLI3-related postaxial polydactyly | ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 | ClinVar Annotator: match by term: Postaxial polydactyly type B | ClinVar Annotator: match by term: Postaxial polydactyly, type A1/B PMID:10441342|PMID:10441570|PMID:12794692|PMID:15739154|PMID:16199547|PMID:18000979|PMID:22428873|PMID:22903559|PMID:24736735|PMID:25741868|PMID:26508445|PMID:28315472|PMID:28492532|PMID:9354785 12174088 GLI3 GLI family zinc finger 3 gene DOID:9005219 Abnormal Reflexes ISO RGD:1314553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperreflexia PMID:28492532 12174088 GLI3 GLI family zinc finger 3 gene DOID:9005660 Hypopigmentation ISO RGD:1314553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18397875 12174088 GLI3 GLI family zinc finger 3 gene DOID:9007878 Crossed Polydactyly, Type I ISO RGD:1314553 D RGD:9068941 20200609 RGD DNA:nonsense mutation:exon:p.R643X (1927 C>T) (human) PMID:16874813|REF_RGD_ID:12738209 12174088 GLI3 GLI family zinc finger 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1314553 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12174088 GLI3 GLI family zinc finger 3 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1314553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:21326280|PMID:22903559|PMID:24736735|PMID:25741868 12174088 GLI3 GLI family zinc finger 3 gene DOID:9008310 Preaxial Polydactyly IV ISO RGD:1314553 D RGD:7240710 20180130 OMIM 12174088 GLI3 GLI family zinc finger 3 gene DOID:9008310 Preaxial Polydactyly IV ISO RGD:1314553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Preaxial polydactyly 4 PMID:10441570|PMID:15739154|PMID:15811011|PMID:18000979|PMID:18435847|PMID:24736735|PMID:25741868|PMID:28492532|PMID:34906502|PMID:6641002 12174088 GLI3 GLI family zinc finger 3 gene DOID:9248 Pallister-Hall syndrome ISO RGD:1314553 D RGD:7240710 20180130 OMIM 12174088 GLI3 GLI family zinc finger 3 gene DOID:9248 Pallister-Hall syndrome ISO RGD:1314553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly | ClinVar Annotator: match by term: Pallister-Hall syndrome PMID:10441570|PMID:10945658|PMID:12545275|PMID:15739154|PMID:15811011|PMID:18000979|PMID:18435847|PMID:24736735|PMID:25741868|PMID:28492532|PMID:34906502|PMID:6641002|PMID:9054938|PMID:9148633 12174088 GLI3 GLI family zinc finger 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12174113 PTCH1 patched 1 gene DOID:0050860 colorectal adenoma ISO RGD:1319156 D RGD:9068941 20211126 RGD PMID:24612059|REF_RGD_ID:150523840 12174113 PTCH1 patched 1 gene DOID:0050902 medulloblastoma ISO RGD:1319156 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:16301862|PMID:16419085|PMID:22952776|PMID:25741868|PMID:28492532 12174113 PTCH1 patched 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1319156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 12174113 PTCH1 patched 1 gene DOID:0060327 omphalocele ISO RGD:1319156 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Omphalocoele PMID:25741868 12174113 PTCH1 patched 1 gene DOID:0060673 Peters anomaly ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:1347096|PMID:26893459|PMID:28492532 12174113 PTCH1 patched 1 gene DOID:0080016 spina bifida ISO RGD:1319156 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:26446020|REF_RGD_ID:12801432 12174113 PTCH1 patched 1 gene DOID:0080600 COVID-19 ISO RGD:1319156 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12174113 PTCH1 patched 1 gene DOID:0110876 holoprosencephaly 7 ISO RGD:1319156 D RGD:7240710 20180130 OMIM 12174113 PTCH1 patched 1 gene DOID:0110876 holoprosencephaly 7 ISO RGD:1319156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 7 PMID:11941477|PMID:12204003|PMID:12925203|PMID:1347096|PMID:15712338|PMID:16231297|PMID:16301862|PMID:17001668|PMID:17096318|PMID:17985375|PMID:18502968|PMID:19346217|PMID:20485063|PMID:21188540|PMID:22221699|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22995991|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24368541|PMID:24728327|PMID:24942795|PMID:25260786|PMID:25326637|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26893459|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27930734|PMID:28492532|PMID:28627087|PMID:28733979|PMID:28873162|PMID:29498494|PMID:29575684|PMID:30262796|PMID:31180159|PMID:31655866|PMID:32074614|PMID:32321774|PMID:32409749|PMID:32906206|PMID:33209614|PMID:33466296|PMID:33729574|PMID:34831015|PMID:8302318|PMID:9463336 12174113 PTCH1 patched 1 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:28492532 12174113 PTCH1 patched 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1319156 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:16231297|PMID:23334667|PMID:24728327|PMID:25567908|PMID:25741868|PMID:26467025|PMID:26559152|PMID:26802149|PMID:26893459|PMID:28492532|PMID:33729574 12174113 PTCH1 patched 1 gene DOID:10460 nasopharyngitis ISO RGD:1319156 D RGD:9068941 20211126 RGD mRNA:decreased expression:epithelium of nasopharynx PMID:23001130|REF_RGD_ID:150523839 12174113 PTCH1 patched 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1319156 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:16231297|PMID:23334667|PMID:24728327|PMID:26467025|PMID:26559152|PMID:26893459|PMID:28492532|PMID:33729574 12174113 PTCH1 patched 1 gene DOID:10534 stomach cancer ISO RGD:1319156 D RGD:9068941 20211126 RGD DNA:hypermethylation:promoter PMID:19673023|REF_RGD_ID:150523838 12174113 PTCH1 patched 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1319156 D RGD:9068941 20211126 RGD PMID:22456124|PMID:23371028|REF_RGD_ID:150523836|REF_RGD_ID:150523844 12174113 PTCH1 patched 1 gene DOID:10534 stomach cancer severity ISO RGD:1319156 D RGD:9068941 20211126 RGD PMID:23440386|REF_RGD_ID:150523843 12174113 PTCH1 patched 1 gene DOID:1059 intellectual disability ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12174113 PTCH1 patched 1 gene DOID:10908 hydrocephalus ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:28492532|PMID:29983323 12174113 PTCH1 patched 1 gene DOID:11830 myopia ISO RGD:1319156 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868|PMID:28492532 12174113 PTCH1 patched 1 gene DOID:13223 uterine fibroid ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uterine leiomyoma PMID:25741868 12174113 PTCH1 patched 1 gene DOID:13636 Fanconi anemia ISO RGD:1319156 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:17924555|PMID:23613520|PMID:28492532|PMID:31558676 12174113 PTCH1 patched 1 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rieger anomaly PMID:26893459|PMID:28492532 12174113 PTCH1 patched 1 gene DOID:1682 congenital heart disease ISO RGD:1319156 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital heart disease PMID:25637381|PMID:28492532 12174113 PTCH1 patched 1 gene DOID:1793 pancreatic cancer ISO RGD:1319156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19077462 12174113 PTCH1 patched 1 gene DOID:1793 pancreatic cancer ISO RGD:1319156 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19396459|REF_RGD_ID:2324910 12174113 PTCH1 patched 1 gene DOID:2120 focal dermal hypoplasia ISO RGD:1319156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gorlin-Goltz Syndrome PMID:11457640|PMID:12204003|PMID:16301862|PMID:16419085|PMID:24728327|PMID:25741868|PMID:28492532 12174113 PTCH1 patched 1 gene DOID:2394 ovarian cancer ISO RGD:1319156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:16931872|PMID:24204797|PMID:25326637|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532|PMID:29205322|PMID:30093976|PMID:31645765 12174113 PTCH1 patched 1 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1319156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome PMID:10048928|PMID:10200051|PMID:10564585|PMID:10890722|PMID:11231326|PMID:11387302|PMID:11457640|PMID:11941477|PMID:12192414|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12900905|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15545745|PMID:15565302|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17328283|PMID:17349603|PMID:17576681|PMID:17703323|PMID:17924555|PMID:18302678|PMID:18373848|PMID:18477452|PMID:1850296|PMID:18502968|PMID:18510667|PMID:18830227|PMID:19002359|PMID:19346217|PMID:19362041|PMID:19521425|PMID:19557015|PMID:20068110|PMID:20301330|PMID:20485063|PMID:20690502|PMID:21188540|PMID:21368767|PMID:21490102|PMID:21514272|PMID:21567912|PMID:22193408|PMID:22221699|PMID:22313357|PMID:22382802|PMID:22434048|PMID:22572734|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22829011|PMID:22844361|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24369017|PMID:24529220|PMID:24651015|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24816767|PMID:24942795|PMID:25117323|PMID:25131638|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25727044|PMID:25741868|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26604511|PMID:26802149|PMID:26893459|PMID:26997948|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27793025|PMID:27930734|PMID:27993330|PMID:28342698|PMID:28492532|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29230040|PMID:29277811|PMID:29381605|PMID:29446198|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29983323|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30368514|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30754660|PMID:30936464|PMID:30997576|PMID:31127104|PMID:31180159|PMID:31437519|PMID:31548691|PMID:31639285|PMID:31644632|PMID:31645765|PMID:31655866|PMID:31837199|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32741058|PMID:32906206|PMID:33077954|PMID:33209614|PMID:33332384|PMID:33418956|PMID:33441926|PMID:33466296|PMID:33609447|PMID:33674644|PMID:33729574|PMID:34008892|PMID:34426522|PMID:34831015|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9231911|PMID:9341860|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294 12174113 PTCH1 patched 1 gene DOID:2513 basal cell carcinoma ISO RGD:1319156 D RGD:7240710 20230505 OMIM 12174113 PTCH1 patched 1 gene DOID:2513 basal cell carcinoma ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 PMID:16301862|PMID:16419085|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8782823|PMID:9620294 12174113 PTCH1 patched 1 gene DOID:2513 basal cell carcinoma ISO RGD:1319156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 PMID:11941477|PMID:15712338|PMID:16301862|PMID:16419085|PMID:17096318|PMID:22703879|PMID:24728327|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29205322|PMID:30411536|PMID:31645765|PMID:32409749|PMID:33332384|PMID:8782823|PMID:9620294 12174113 PTCH1 patched 1 gene DOID:2513 basal cell carcinoma disease_progression ISO RGD:1319156 D RGD:9068941 20200609 RGD mRNA:increased expression:skin of body PMID:10504535|REF_RGD_ID:12801453 12174113 PTCH1 patched 1 gene DOID:3213 demyelinating disease treatment ISO RGD:1319157 D RGD:9068941 20200609 RGD PMID:15128833|REF_RGD_ID:12801445 12174113 PTCH1 patched 1 gene DOID:3247 rhabdomyosarcoma ISO RGD:1319156 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:33372952 12174113 PTCH1 patched 1 gene DOID:3304 germinoma ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Germinoma PMID:25741868|PMID:28492532 12174113 PTCH1 patched 1 gene DOID:3459 breast carcinoma ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:25741868|PMID:28492532 12174113 PTCH1 patched 1 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1319156 D RGD:9068941 20211126 RGD PMID:16475698|REF_RGD_ID:150523841 12174113 PTCH1 patched 1 gene DOID:3840 craniopharyngioma ISO RGD:1319156 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Craniopharyngioma PMID:25741868|PMID:26467025|PMID:28492532|PMID:29230040 12174113 PTCH1 patched 1 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:1319156 D RGD:9068941 20211203 RGD DNA:CNVs PMID:21889114|REF_RGD_ID:150524337 12174113 PTCH1 patched 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1319156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330|PMID:28492532 12174113 PTCH1 patched 1 gene DOID:4195 hyperglycemia ISO RGD:1319156 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:16804411|REF_RGD_ID:2324911 12174113 PTCH1 patched 1 gene DOID:4621 holoprosencephaly ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:11941477|PMID:17001668|PMID:21188540|PMID:22703879|PMID:22820256|PMID:24055113|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26489027|PMID:26893459|PMID:27153395|PMID:28492532|PMID:8302318 12174113 PTCH1 patched 1 gene DOID:4948 gallbladder carcinoma disease_progression ISO RGD:1319156 D RGD:9068941 20211126 RGD PMID:22407314|REF_RGD_ID:150523794 12174113 PTCH1 patched 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1319156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 12174113 PTCH1 patched 1 gene DOID:5522 basaloid squamous cell carcinoma ISO RGD:1319156 D RGD:9068941 20211126 RGD DNA:missense mutations, nonsense mutations PMID:25395299|REF_RGD_ID:150523793 12174113 PTCH1 patched 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 12174113 PTCH1 patched 1 gene DOID:630 genetic disease ISO RGD:1319156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11941477|PMID:12879481|PMID:15545745|PMID:16301862|PMID:16419085|PMID:17001668|PMID:22313357|PMID:22703879|PMID:24204797|PMID:24529220|PMID:25403219|PMID:26356331|PMID:26604511|PMID:28492532|PMID:29212164|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9231911 12174113 PTCH1 patched 1 gene DOID:674 cleft palate ISO RGD:1319156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16405370 12174113 PTCH1 patched 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1319156 D RGD:9068941 20211126 RGD PMID:22911366|REF_RGD_ID:150523842 12174113 PTCH1 patched 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1319156 D RGD:9068941 20211126 RGD PMID:18538319|REF_RGD_ID:150523837 12174113 PTCH1 patched 1 gene DOID:768 retinoblastoma ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:24728327|PMID:25741868|PMID:28492532 12174113 PTCH1 patched 1 gene DOID:769 neuroblastoma ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:25741868|PMID:28492532 12174113 PTCH1 patched 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:621425 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:23933201|REF_RGD_ID:12859044 12174113 PTCH1 patched 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1319156 D RGD:9068941 20211126 RGD associated with colorectal cancer PMID:20230186|REF_RGD_ID:150523835 12174113 PTCH1 patched 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:621425 D RGD:9068941 20221201 RGD mRNA,protein:increased expression:choroid: PMID:21063852|REF_RGD_ID:12859045 12174113 PTCH1 patched 1 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:621425 D RGD:9068941 20200609 RGD PMID:25821409|REF_RGD_ID:12879456 12174113 PTCH1 patched 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1319156 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:10564585|PMID:25741868|PMID:28492532 12174113 PTCH1 patched 1 gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:1319156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9581815 12174113 PTCH1 patched 1 gene DOID:9003769 Patterson Stevenson Syndrome ISO RGD:1319156 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME PMID:12204003|PMID:24728327|PMID:25741868|PMID:28492532 12174113 PTCH1 patched 1 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1319156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868|PMID:28492532 12174113 PTCH1 patched 1 gene DOID:9004237 Hyperoxic Lung Injury ISO RGD:621425 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:22641469|REF_RGD_ID:12859031 12174113 PTCH1 patched 1 gene DOID:9004464 Skin Neoplasms ISO RGD:1319156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9581815 12174113 PTCH1 patched 1 gene DOID:9005100 Aberrant Crypt Foci ISO RGD:1319156 D RGD:9068941 20211105 RGD DNA:hypermethylation:colon PMID:22945423|REF_RGD_ID:150520176 12174113 PTCH1 patched 1 gene DOID:9005729 Chronic Experimental Pancreatitis ISO RGD:621425 D RGD:9068941 20200609 RGD PMID:24782623|REF_RGD_ID:12879405 12174113 PTCH1 patched 1 gene DOID:9005987 Basal Cell Nevus Syndrome 1 ISO RGD:1319156 D RGD:7240710 20230505 OMIM 12174113 PTCH1 patched 1 gene DOID:9005987 Basal Cell Nevus Syndrome 1 ISO RGD:1319156 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: BASAL CELL NEVUS SYNDROME 1 PMID:11457640|PMID:12204003|PMID:16301862|PMID:16419085|PMID:24728327|PMID:25741868|PMID:28492532 12174113 PTCH1 patched 1 gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:1319157 D RGD:9068941 20211126 RGD PMID:19321799|REF_RGD_ID:150523834 12174113 PTCH1 patched 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319156 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10048928|PMID:10200051|PMID:10564585|PMID:11941477|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21325292|PMID:21520333|PMID:21834049|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27793025|PMID:27930734|PMID:28492532|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29205322|PMID:29212164|PMID:29498494|PMID:29575684|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30584090|PMID:30666157|PMID:30997576|PMID:31437519|PMID:31645765|PMID:31655866|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32321774|PMID:32409749|PMID:33077954|PMID:33209614|PMID:33729574|PMID:34426522|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294 12174113 PTCH1 patched 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319156 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10048928|PMID:10200051|PMID:10564585|PMID:11941477|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21234763|PMID:21325292|PMID:21520333|PMID:21834049|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27149842|PMID:27153395|PMID:27363716|PMID:27535533|PMID:27561271|PMID:27793025|PMID:27930734|PMID:28492532|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29205322|PMID:29212164|PMID:29498494|PMID:29575684|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30997576|PMID:31437519|PMID:31645765|PMID:31655866|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32321774|PMID:32409749|PMID:33077954|PMID:33209614|PMID:33729574|PMID:34426522|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294 12174113 PTCH1 patched 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319156 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10048928|PMID:10200051|PMID:10564585|PMID:11457640|PMID:11531849|PMID:11941477|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21234763|PMID:21325292|PMID:21490102|PMID:21520333|PMID:21834049|PMID:22193408|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:26290144|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27149842|PMID:27153395|PMID:27363716|PMID:27535533|PMID:27561271|PMID:27680694|PMID:27793025|PMID:27930734|PMID:28492532|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29255261|PMID:29381605|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29792231|PMID:29849051|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30997576|PMID:31113992|PMID:31127104|PMID:31437519|PMID:31548691|PMID:31639285|PMID:31645765|PMID:31655866|PMID:31837199|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32860743|PMID:33077954|PMID:33209614|PMID:33270637|PMID:33332384|PMID:33609447|PMID:33729574|PMID:34426522|PMID:34698632|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9192811|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294 12174113 PTCH1 patched 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10048928|PMID:10200051|PMID:10564585|PMID:10890722|PMID:11457640|PMID:11531849|PMID:11941477|PMID:12192414|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21325292|PMID:21490102|PMID:21834049|PMID:22193408|PMID:22221699|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:26290144|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27680694|PMID:27793025|PMID:27930734|PMID:28492532|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29230040|PMID:29255261|PMID:29381605|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29792231|PMID:29849051|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30584090|PMID:30666157|PMID:30997576|PMID:31113992|PMID:31127104|PMID:31180159|PMID:31437519|PMID:31548691|PMID:31639285|PMID:31645765|PMID:31655866|PMID:31837199|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32860743|PMID:32906206|PMID:33077954|PMID:33209614|PMID:33332384|PMID:33466296|PMID:33609447|PMID:33674644|PMID:33729574|PMID:34426522|PMID:34698632|PMID:34831015|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9192811|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294 12174113 PTCH1 patched 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319156 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10048928|PMID:10200051|PMID:10564585|PMID:10890722|PMID:11457640|PMID:11531849|PMID:11941477|PMID:12192414|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21325292|PMID:21490102|PMID:21834049|PMID:22193408|PMID:22221699|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:26290144|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27680694|PMID:27793025|PMID:27930734|PMID:27993330|PMID:28492532|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29230040|PMID:29255261|PMID:29381605|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29792231|PMID:29849051|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30997576|PMID:31113992|PMID:31127104|PMID:31180159|PMID:31437519|PMID:31548691|PMID:31639285|PMID:31645765|PMID:31655866|PMID:31837199|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32860743|PMID:32906206|PMID:33077954|PMID:33209614|PMID:33332384|PMID:33466296|PMID:33609447|PMID:33674644|PMID:33729574|PMID:34426522|PMID:34698632|PMID:34831015|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9192811|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294 12174113 PTCH1 patched 1 gene DOID:9007284 Precocious Puberty ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Precocious puberty 12174113 PTCH1 patched 1 gene DOID:9007502 Brain Neoplasms ISO RGD:1319156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9581815 12174113 PTCH1 patched 1 gene DOID:9007798 Preaxial Polydactyly II ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly, preaxial II PMID:12204003|PMID:24728327|PMID:25741868|PMID:28492532 12174113 PTCH1 patched 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1319156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:31837199|PMID:9536098 12174113 PTCH1 patched 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1319156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16405370|PMID:18539553 12174113 PTCH1 patched 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868|PMID:26467025|PMID:28492532|PMID:28873162|PMID:32321774 12174113 PTCH1 patched 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12174113 PTCH1 patched 1 gene DOID:9296 cleft lip ISO RGD:1319156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16405370 12174141 DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:0060612 abdominal obesity-metabolic syndrome 3 ISO RGD:1316288 D RGD:7240710 20180130 OMIM 12174141 DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:0060612 abdominal obesity-metabolic syndrome 3 ISO RGD:1316288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 PMID:24827035|PMID:25741868|PMID:28492532 12174141 DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1316288 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12174141 DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1316288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12174141 DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:1342 congenital hypoplastic anemia ISO RGD:1316288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12174141 DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:2340 craniosynostosis ISO RGD:1316288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12174141 DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:2661 myoepithelioma ISO RGD:1316288 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12174141 DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:630 genetic disease ISO RGD:1316288 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12174141 DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1316288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12174141 DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:9002762 Ovarian Neoplasms ISO RGD:1316288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20857490 12174141 DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:9269 maple syrup urine disease ISO RGD:1316288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12174141 DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1316288 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12174164 LOC484540 zinc finger protein 585A gene DOID:630 genetic disease ISO RGD:1604726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12174193 ZNF596 zinc finger protein 596 gene DOID:630 genetic disease ISO RGD:1353829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12174217 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1321547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12174217 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1321547 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12174217 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1321547 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12174217 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:0111996 immunodeficiency 51 ISO RGD:1321547 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12174217 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:1059 intellectual disability ISO RGD:1321547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12174217 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1321547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12174217 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:11372 megacolon ISO RGD:1321547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12174217 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:12583 velocardiofacial syndrome ISO RGD:1321547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12174217 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:12849 autistic disorder ISO RGD:1321547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12174217 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:1826 epilepsy ISO RGD:1321547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12174217 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:5419 schizophrenia ISO RGD:1321547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12174217 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1321547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12174217 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:630 genetic disease ISO RGD:1321547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12174217 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12174217 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:9007661 Dwarfism ISO RGD:1321547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12174217 DGCR2 DiGeorge syndrome critical region gene 2 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1321547 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12174238 LCOR ligand dependent nuclear receptor corepressor gene DOID:10283 prostate cancer ISO RGD:1603601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12174238 LCOR ligand dependent nuclear receptor corepressor gene DOID:630 genetic disease ISO RGD:1603601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12174258 NFKB2 nuclear factor kappa B subunit 2 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1316230 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 12174258 NFKB2 nuclear factor kappa B subunit 2 gene DOID:0080855 Parkinsonism ISO RGD:1307189 D RGD:9068941 20200609 RGD PMID:18534259|REF_RGD_ID:2302392 12174258 NFKB2 nuclear factor kappa B subunit 2 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1316230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:24140114|PMID:28492532 12174258 NFKB2 nuclear factor kappa B subunit 2 gene DOID:0081152 common variable immunodeficiency 10 ISO RGD:1316230 D RGD:7240710 20190327 OMIM 12174258 NFKB2 nuclear factor kappa B subunit 2 gene DOID:0081152 common variable immunodeficiency 10 ISO RGD:1316230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 PMID:16199547|PMID:16303288|PMID:17576681|PMID:22013103|PMID:24033266|PMID:24140114|PMID:24702956|PMID:24888602|PMID:25237204|PMID:25524009|PMID:25605273|PMID:25741868|PMID:28492532|PMID:28778864|PMID:29225085|PMID:29921932|PMID:30941118|PMID:31417880|PMID:32506361|PMID:9536098 12174258 NFKB2 nuclear factor kappa B subunit 2 gene DOID:12155 lymphocytic choriomeningitis disease_progression ISO RGD:1316231 D RGD:9068941 20201218 RGD PMID:20565293|REF_RGD_ID:40902858 12174258 NFKB2 nuclear factor kappa B subunit 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1316230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:24140114|PMID:24702956|PMID:25524009|PMID:25605273|PMID:25741868|PMID:28492532|PMID:28778864|PMID:29225085|PMID:30941118 12174258 NFKB2 nuclear factor kappa B subunit 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 12174258 NFKB2 nuclear factor kappa B subunit 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1316230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:24140114|PMID:24702956|PMID:25524009|PMID:25605273|PMID:25741868|PMID:28492532|PMID:28778864|PMID:29225085|PMID:30941118|PMID:30953794 12174258 NFKB2 nuclear factor kappa B subunit 2 gene DOID:630 genetic disease ISO RGD:1316230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12174258 NFKB2 nuclear factor kappa B subunit 2 gene DOID:649 prion disease ISO RGD:1316231 D RGD:9068941 20201218 RGD PMID:17573907|REF_RGD_ID:40902830 12174258 NFKB2 nuclear factor kappa B subunit 2 gene DOID:8929 atrophic gastritis ISO RGD:1316231 D RGD:9068941 20201218 RGD associated with Helicobacter Infections PMID:23975431|REF_RGD_ID:40902973 12174258 NFKB2 nuclear factor kappa B subunit 2 gene DOID:9001455 Intestinal Helminthiasis treatment ISO RGD:1316231 D RGD:9068941 20201225 RGD PMID:12370384|REF_RGD_ID:40902988 12174258 NFKB2 nuclear factor kappa B subunit 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1307189 D RGD:9068941 20200609 RGD protein:increased activity:striatum PMID:17250675|REF_RGD_ID:2302394 12174258 NFKB2 nuclear factor kappa B subunit 2 gene DOID:9004649 Heat Stroke ISO RGD:1316230 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 12174258 NFKB2 nuclear factor kappa B subunit 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307189 D RGD:9068941 20200609 RGD PMID:18633731|REF_RGD_ID:2298775 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1347433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1347433 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:19380626|PMID:25741868 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1347433 D RGD:9068941 20200609 RGD DNA:missense mutations, SNPs:exon, intron:multiple PMID:21511817|REF_RGD_ID:7247446 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1347433 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:25741868|PMID:28492532 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:0111129 focal segmental glomerulosclerosis 2 ISO RGD:1347433 D RGD:7240710 20180130 OMIM 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:0111129 focal segmental glomerulosclerosis 2 ISO RGD:1347433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 2 PMID:10200986|PMID:15879175|PMID:15924139|PMID:16932363|PMID:19129465|PMID:19380626|PMID:19458060|PMID:19936226|PMID:21734084|PMID:22732337|PMID:22980509|PMID:2298509|PMID:23291369|PMID:23645677|PMID:25019165|PMID:25741868|PMID:26127002|PMID:26467025|PMID:26892346|PMID:27573339|PMID:28117080|PMID:28166811|PMID:28204945|PMID:28492532|PMID:28780565|PMID:28921387|PMID:29127259|PMID:30295827|PMID:30655312|PMID:31937884|PMID:33532864|PMID:33884742 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:1059 intellectual disability ISO RGD:1347433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:1184 nephrotic syndrome ISO RGD:1347433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:15924139|PMID:19129465|PMID:21734084|PMID:23645677|PMID:25741868|PMID:26467025|PMID:26892346|PMID:28117080|PMID:28204945|PMID:28492532|PMID:28921387|PMID:29127259|PMID:30295827|PMID:30655312|PMID:31937884|PMID:33884742 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:12704 ataxia telangiectasia ISO RGD:1347433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1347433 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:19936226|PMID:22980509|PMID:25019165|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32581362 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:1312 focal segmental glomerulosclerosis treatment ISO RGD:1347433 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.P15S (human) PMID:22980509|REF_RGD_ID:7247444 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:1312 focal segmental glomerulosclerosis treatment ISO RGD:619788 D RGD:9068941 20200609 RGD PMID:21839714|PMID:23385000|REF_RGD_ID:7247440|REF_RGD_ID:7247445 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:150 disease of mental health ISO RGD:1347433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21059368 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:224 transient cerebral ischemia ISO RGD:732721 D RGD:9068941 20200609 RGD PMID:23043486|REF_RGD_ID:7247583 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:224 transient cerebral ischemia treatment ISO RGD:619788 D RGD:9068941 20200609 RGD PMID:20811149|PMID:23435869|REF_RGD_ID:7247582|REF_RGD_ID:7247585 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:557 kidney disease ISO RGD:1347433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:557 kidney disease treatment ISO RGD:619788 D RGD:9068941 20200609 RGD PMID:23535151|REF_RGD_ID:7247439 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:576 proteinuria ISO RGD:619788 D RGD:9068941 20230128 RGD mRNA:increased expression:glomerular podocytes (rat) PMID:31784544|REF_RGD_ID:155882534 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:576 proteinuria ISO RGD:736283 D RGD:9068941 20200609 RGD PMID:23385000|REF_RGD_ID:7247440 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:630 genetic disease ISO RGD:1347433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:6432 pulmonary hypertension ISO RGD:1347433 D RGD:9068941 20200609 RGD PMID:15358862|REF_RGD_ID:1580490 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:8544 chronic fatigue syndrome ISO RGD:1347433 D RGD:9068941 20201203 RGD DNA:SNPs: : PMID:27834303|REF_RGD_ID:40886272 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:9000040 Hypertrophy ISO RGD:1347433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20177073 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:9000854 Lethal Congenital Contracture Syndrome 7 ISO RGD:1347433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:9001542 Albuminuria ISO RGD:1557692 D RGD:9068941 20200609 RGD PMID:21839714|REF_RGD_ID:7247445 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:9001542 Albuminuria ISO RGD:619788 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA:decreased expression:kidney cortex PMID:19887786|REF_RGD_ID:7247603 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:9002165 Diabetic Nephropathies induces ISO XCO:0000245,XCO:0000241 D RGD:9068941 20210730 RGD PMID:29923767|REF_RGD_ID:149735534 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:619788 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22673147|REF_RGD_ID:7247584 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:9002174 Disease Susceptibility ISO RGD:1347433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20130021 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:9002211 Hyperalgesia ISO RGD:619788 D RGD:9068941 20200609 RGD PMID:19439599|REF_RGD_ID:7247605 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:619788 D RGD:9068941 20230128 RGD mRNA:increased expression:glomerular podocytes (rat) PMID:31784544|REF_RGD_ID:155882534 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:9003936 Cardiomegaly ISO RGD:732721 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:23212367|REF_RGD_ID:7247443 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:9004009 Reperfusion Injury treatment ISO RGD:619788 D RGD:9068941 20200609 RGD PMID:20554625|REF_RGD_ID:4891135 12174290 TRPC6 transient receptor potential cation channel subfamily C member 6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:619788 D RGD:9068941 20200609 RGD protein:increased expression:artery smooth muscle PMID:20337661|REF_RGD_ID:7247596 12174307 SPECC1 sperm antigen with calponin homology and coiled-coil domains 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1606479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12174307 SPECC1 sperm antigen with calponin homology and coiled-coil domains 1 gene DOID:12849 autistic disorder ISO RGD:1606479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12174307 SPECC1 sperm antigen with calponin homology and coiled-coil domains 1 gene DOID:2661 myoepithelioma ISO RGD:1606479 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12174307 SPECC1 sperm antigen with calponin homology and coiled-coil domains 1 gene DOID:630 genetic disease ISO RGD:1606479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12174307 SPECC1 sperm antigen with calponin homology and coiled-coil domains 1 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1606479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 12174336 GTF2IRD1 GTF2I repeat domain containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:733836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12174336 GTF2IRD1 GTF2I repeat domain containing 1 gene DOID:10923 sickle cell anemia ISO RGD:733836 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12174336 GTF2IRD1 GTF2I repeat domain containing 1 gene DOID:12849 autistic disorder ISO RGD:733836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12174336 GTF2IRD1 GTF2I repeat domain containing 1 gene DOID:1928 Williams-Beuren syndrome ISO RGD:733836 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 12174336 GTF2IRD1 GTF2I repeat domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12174336 GTF2IRD1 GTF2I repeat domain containing 1 gene DOID:5419 schizophrenia ISO RGD:733836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12174336 GTF2IRD1 GTF2I repeat domain containing 1 gene DOID:630 genetic disease ISO RGD:733836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12174336 GTF2IRD1 GTF2I repeat domain containing 1 gene DOID:8445 intestinal volvulus ISO RGD:733836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12174336 GTF2IRD1 GTF2I repeat domain containing 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:733836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:32349160 12174336 GTF2IRD1 GTF2I repeat domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12174336 GTF2IRD1 GTF2I repeat domain containing 1 gene DOID:9007491 Childhood Schizophrenia ISO RGD:733836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 12174336 GTF2IRD1 GTF2I repeat domain containing 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:733836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12174336 GTF2IRD1 GTF2I repeat domain containing 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20007321 12174373 HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:734010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12174373 HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:0111071 congenital bile acid synthesis defect 1 ISO RGD:734010 D RGD:7240710 20180130 OMIM 12174373 HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:0111071 congenital bile acid synthesis defect 1 ISO RGD:734010 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 1 PMID:11067870|PMID:12679481|PMID:25741868|PMID:26712441|PMID:28492532|PMID:3470305 12174373 HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:734010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:25362483|PMID:26818399|PMID:28492532|PMID:31273778 12174373 HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:13580 cholestasis ISO RGD:734010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25526675 12174373 HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:1852 intrahepatic cholestasis ISO RGD:734010 D RGD:9068941 20200609 RGD CBAS1, OMIM:607765 PMID:12679481|REF_RGD_ID:1599971 12174373 HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:630 genetic disease ISO RGD:734010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12174398 DAP death associated protein gene DOID:630 genetic disease ISO RGD:737267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12174398 DAP death associated protein gene DOID:8577 ulcerative colitis ISO RGD:737267 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 12174406 SLX1A SLX1 homolog A, structure-specific endonuclease subunit gene DOID:0060019 coronin-1A deficiency ISO RGD:1603444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION PMID:28492532 12174406 SLX1A SLX1 homolog A, structure-specific endonuclease subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1603444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12174406 SLX1A SLX1 homolog A, structure-specific endonuclease subunit gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1603444 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12174406 SLX1A SLX1 homolog A, structure-specific endonuclease subunit gene DOID:0090066 Fanconi-like syndrome ISO RGD:1551164 D RGD:9068941 20220825 MouseDO OMIM:227850 12174406 SLX1A SLX1 homolog A, structure-specific endonuclease subunit gene DOID:12849 autistic disorder ISO RGD:1603444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12174406 SLX1A SLX1 homolog A, structure-specific endonuclease subunit gene DOID:5419 schizophrenia ISO RGD:1603444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12174406 SLX1A SLX1 homolog A, structure-specific endonuclease subunit gene DOID:630 genetic disease ISO RGD:1603444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12174406 SLX1A SLX1 homolog A, structure-specific endonuclease subunit gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1603444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12174429 GAR1 GAR1 ribonucleoprotein gene DOID:2729 dyskeratosis congenita ISO RGD:1346713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22299032 12174429 GAR1 GAR1 ribonucleoprotein gene DOID:3910 lung adenocarcinoma ISO RGD:1346713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12174429 GAR1 GAR1 ribonucleoprotein gene DOID:630 genetic disease ISO RGD:1346713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12174429 GAR1 GAR1 ribonucleoprotein gene DOID:74 hematopoietic system disease ISO RGD:1346713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22299032 12174429 GAR1 GAR1 ribonucleoprotein gene DOID:9006205 Animal Disease Models ISO RGD:1346713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12174460 MYADM myeloid associated differentiation marker gene DOID:0090063 familial cold autoinflammatory syndrome 2 ISO RGD:1353717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 PMID:28492532 12174460 MYADM myeloid associated differentiation marker gene DOID:630 genetic disease ISO RGD:1353717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12174460 MYADM myeloid associated differentiation marker gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12174470 CERT1 ceramide transporter 1 gene DOID:0070064 autosomal dominant intellectual developmental disorder 34 ISO RGD:1319300 D RGD:7240710 20180130 OMIM 12174470 CERT1 ceramide transporter 1 gene DOID:0070064 autosomal dominant intellectual developmental disorder 34 ISO RGD:1319300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 34 PMID:25533962|PMID:25741868 12174470 CERT1 ceramide transporter 1 gene DOID:1059 intellectual disability ISO RGD:1319300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12174470 CERT1 ceramide transporter 1 gene DOID:10907 microcephaly ISO RGD:1319300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12174470 CERT1 ceramide transporter 1 gene DOID:12849 autistic disorder ISO RGD:1319300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25363768 12174470 CERT1 ceramide transporter 1 gene DOID:1826 epilepsy ISO RGD:1319300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 12174470 CERT1 ceramide transporter 1 gene DOID:3323 Sandhoff disease ISO RGD:1319300 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 12174470 CERT1 ceramide transporter 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1319300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 12174470 CERT1 ceramide transporter 1 gene DOID:630 genetic disease ISO RGD:1319300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17442665|PMID:23033978|PMID:25356899|PMID:25533962|PMID:28135719 12174470 CERT1 ceramide transporter 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12174470 CERT1 ceramide transporter 1 gene DOID:9005775 Perinatal Asphyxia ISO RGD:1309131 D RGD:9068941 20230302 RGD PMID:23625371|REF_RGD_ID:156431056 12174507 HOXD8 homeobox D8 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1351859 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12174507 HOXD8 homeobox D8 gene DOID:630 genetic disease ISO RGD:1351859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12174512 NFIL3 nuclear factor, interleukin 3 regulated gene DOID:0050589 inflammatory bowel disease ISO RGD:732632 D RGD:9068941 20220825 MouseDO 12174512 NFIL3 nuclear factor, interleukin 3 regulated gene DOID:0050628 advanced sleep phase syndrome ISO RGD:1345604 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25395965 12174512 NFIL3 nuclear factor, interleukin 3 regulated gene DOID:0110002 3-methylglutaconic aciduria type 1 ISO RGD:1345604 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 PMID:28492532 12174512 NFIL3 nuclear factor, interleukin 3 regulated gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1345604 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 12174512 NFIL3 nuclear factor, interleukin 3 regulated gene DOID:630 genetic disease ISO RGD:1345604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12174517 PLEKHH3 pleckstrin homology, MyTH4 and FERM domain containing H3 gene DOID:630 genetic disease ISO RGD:1602457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12174541 C15H16orf87 chromosome 15 C16orf87 homolog gene DOID:0111041 glycogen storage disease IXb ISO RGD:1604693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 12174580 ZSWIM9 zinc finger SWIM-type containing 9 gene DOID:11612 polycystic ovary syndrome ISO RGD:1602629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12174639 TIMM10 translocase of inner mitochondrial membrane 10 gene DOID:1059 intellectual disability ISO RGD:734114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12174639 TIMM10 translocase of inner mitochondrial membrane 10 gene DOID:3247 rhabdomyosarcoma ISO RGD:734114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16669873 12174639 TIMM10 translocase of inner mitochondrial membrane 10 gene DOID:3910 lung adenocarcinoma ISO RGD:734114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12174639 TIMM10 translocase of inner mitochondrial membrane 10 gene DOID:630 genetic disease ISO RGD:734114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12174639 TIMM10 translocase of inner mitochondrial membrane 10 gene DOID:9006205 Animal Disease Models ISO RGD:734114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12174654 TRMT10C tRNA methyltransferase 10C, mitochondrial RNase P subunit gene DOID:0111471 combined oxidative phosphorylation deficiency 30 ISO RGD:1314894 D RGD:7240710 20190315 OMIM 12174654 TRMT10C tRNA methyltransferase 10C, mitochondrial RNase P subunit gene DOID:0111471 combined oxidative phosphorylation deficiency 30 ISO RGD:1314894 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 30 PMID:25741868|PMID:27132592 12174654 TRMT10C tRNA methyltransferase 10C, mitochondrial RNase P subunit gene DOID:630 genetic disease ISO RGD:1314894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12174654 TRMT10C tRNA methyltransferase 10C, mitochondrial RNase P subunit gene DOID:700 mitochondrial metabolism disease ISO RGD:1314894 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25741868|PMID:27132592 12174669 RXRG retinoid X receptor gamma gene DOID:1540 parathyroid carcinoma ISO RGD:733408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12174669 RXRG retinoid X receptor gamma gene DOID:3908 lung non-small cell carcinoma ISO RGD:733408 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:20113835|REF_RGD_ID:13503326 12174669 RXRG retinoid X receptor gamma gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:733408 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid PMID:28677753|REF_RGD_ID:13792605 12174669 RXRG retinoid X receptor gamma gene DOID:630 genetic disease ISO RGD:733408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12174669 RXRG retinoid X receptor gamma gene DOID:9007102 Myocardial Ischemia ISO RGD:733408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12174669 RXRG retinoid X receptor gamma gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12174696 BLTP3A bridge-like lipid transfer protein family member 3A gene DOID:0050553 JMP syndrome ISO RGD:1316354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12174696 BLTP3A bridge-like lipid transfer protein family member 3A gene DOID:630 genetic disease ISO RGD:1316354 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12174696 BLTP3A bridge-like lipid transfer protein family member 3A gene DOID:9005539 Familial Prostate Cancer ISO RGD:1316354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12174696 BLTP3A bridge-like lipid transfer protein family member 3A gene DOID:9074 systemic lupus erythematosus ISO RGD:1316354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838195 12174739 SHISA6 shisa family member 6 gene DOID:630 genetic disease ISO RGD:1602039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12174749 CDX4 caudal type homeobox 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12174749 CDX4 caudal type homeobox 4 gene DOID:12849 autistic disorder ISO RGD:1351181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12174749 CDX4 caudal type homeobox 4 gene DOID:630 genetic disease ISO RGD:1351181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12174755 TCTA T cell leukemia translocation altered gene DOID:0060852 Pierson syndrome ISO RGD:1342729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 12174755 TCTA T cell leukemia translocation altered gene DOID:630 genetic disease ISO RGD:1342729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12174755 TCTA T cell leukemia translocation altered gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1342729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12174755 TCTA T cell leukemia translocation altered gene DOID:9268 glycine encephalopathy ISO RGD:1342729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:28492532 12174762 MTHFS methenyltetrahydrofolate synthetase gene DOID:2717 Bloom syndrome ISO RGD:1315743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12174762 MTHFS methenyltetrahydrofolate synthetase gene DOID:630 genetic disease ISO RGD:1315743 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12174762 MTHFS methenyltetrahydrofolate synthetase gene DOID:674 cleft palate ISO RGD:1315743 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 12174762 MTHFS methenyltetrahydrofolate synthetase gene DOID:9000512 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination ISO RGD:1315743 D RGD:7240710 20190424 OMIM 12174762 MTHFS methenyltetrahydrofolate synthetase gene DOID:9000512 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination ISO RGD:1315743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination PMID:25741868|PMID:28492532|PMID:30031689 12174762 MTHFS methenyltetrahydrofolate synthetase gene DOID:9256 colorectal cancer ISO RGD:1315743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12174762 MTHFS methenyltetrahydrofolate synthetase gene DOID:9296 cleft lip ISO RGD:1315743 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 12174777 AFF3 ALF transcription elongation factor 3 gene DOID:0112383 KINSSHIP syndrome ISO RGD:1318349 D RGD:7240710 20210623 OMIM 12174777 AFF3 ALF transcription elongation factor 3 gene DOID:0112383 KINSSHIP syndrome ISO RGD:1318349 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: KINSSHIP syndrome PMID:25741868|PMID:31388108|PMID:33961779 12174777 AFF3 ALF transcription elongation factor 3 gene DOID:303 substance-related disorder ISO RGD:1318349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12174777 AFF3 ALF transcription elongation factor 3 gene DOID:630 genetic disease ISO RGD:1318349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12174777 AFF3 ALF transcription elongation factor 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1318349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 12174811 SP110 SP110 nuclear body protein gene DOID:0060476 Perlman syndrome ISO RGD:1320919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12174811 SP110 SP110 nuclear body protein gene DOID:0110991 Joubert syndrome 22 ISO RGD:1320919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12174811 SP110 SP110 nuclear body protein gene DOID:0112254 hepatic venoocclusive disease with immunodeficiency ISO RGD:1320919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatic veno-occlusive disease-immunodeficiency syndrome PMID:16648851|PMID:16803959|PMID:16816019|PMID:17149599|PMID:17510920|PMID:17576681|PMID:19780822|PMID:20301448|PMID:21536091|PMID:22621957|PMID:23448538|PMID:24033266|PMID:25741868|PMID:27577878|PMID:28492532|PMID:32888943|PMID:9536098 12174811 SP110 SP110 nuclear body protein gene DOID:0112254 hepatic venoocclusive disease with immunodeficiency susceptibility ISO RGD:1320919 D RGD:7240710 20230510 OMIM 12174811 SP110 SP110 nuclear body protein gene DOID:399 tuberculosis ISO RGD:1320919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:16803959|PMID:16816019|PMID:17149599|PMID:24033266|PMID:25741868|PMID:28492532 12174811 SP110 SP110 nuclear body protein gene DOID:399 tuberculosis susceptibility ISO RGD:1320919 D RGD:7240710 20230510 OMIM 12174811 SP110 SP110 nuclear body protein gene DOID:630 genetic disease ISO RGD:1320919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12174882 SSR1 signal sequence receptor subunit 1 gene DOID:630 genetic disease ISO RGD:1322158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12174910 CASD1 CAS1 domain containing 1 gene DOID:0090034 myoclonic dystonia 11 ISO RGD:1603612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 11 PMID:10220438|PMID:10716258|PMID:11022010|PMID:11523564|PMID:11528394|PMID:12325078|PMID:12391338|PMID:12391355|PMID:12402271|PMID:12743249|PMID:12821748|PMID:12874409|PMID:15079037|PMID:15389977|PMID:15728306|PMID:16199547|PMID:16227522|PMID:16240355|PMID:17101905|PMID:17296918|PMID:17576681|PMID:17853490|PMID:18175340|PMID:18205193|PMID:18349702|PMID:18355305|PMID:18362280|PMID:19117362|PMID:19147379|PMID:21796726|PMID:22026499|PMID:22259621|PMID:23365103|PMID:2367709|PMID:23677909|PMID:23748201|PMID:24297365|PMID:24759409|PMID:25401298|PMID:25741868|PMID:26467025|PMID:28155872|PMID:28492532|PMID:29607243|PMID:30849405|PMID:32927286|PMID:33200041|PMID:9536098|PMID:9750929 12174910 CASD1 CAS1 domain containing 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1603612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12174910 CASD1 CAS1 domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12174910 CASD1 CAS1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1603612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11528394|PMID:12821748|PMID:15389977|PMID:15728306|PMID:17296918|PMID:17853490|PMID:18205193|PMID:23748201|PMID:24297365|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9750929 12174931 ETV1 ETS variant transcription factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12174931 ETV1 ETS variant transcription factor 1 gene DOID:630 genetic disease ISO RGD:1323762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12174931 ETV1 ETS variant transcription factor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17173048|PMID:17671502|PMID:27783944 12174931 ETV1 ETS variant transcription factor 1 gene DOID:9008192 Neoplastic Processes ISO RGD:1323762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27783944 12174931 ETV1 ETS variant transcription factor 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1323762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30224643 12174970 SIRT3 sirtuin 3 gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:1318107 D RGD:9068941 20220825 MouseDO 12174970 SIRT3 sirtuin 3 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:1308374 D RGD:9068941 20200609 RGD associated with Obesity PMID:22327056|REF_RGD_ID:9586049 12174970 SIRT3 sirtuin 3 gene DOID:0111969 immunodeficiency 39 ISO RGD:1318106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12174970 SIRT3 sirtuin 3 gene DOID:10652 Alzheimer's disease ISO RGD:1318106 D RGD:9068941 20200609 RGD mRNA:increased expression:temporal cortex PMID:23139766|REF_RGD_ID:9586045 12174970 SIRT3 sirtuin 3 gene DOID:10652 Alzheimer's disease ISO RGD:1318107 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:23139766|REF_RGD_ID:9586045 12174970 SIRT3 sirtuin 3 gene DOID:11714 gestational diabetes ISO RGD:1318106 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23956348 12174970 SIRT3 sirtuin 3 gene DOID:11716 prediabetes syndrome ISO RGD:1308374 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:24361842|REF_RGD_ID:9586046 12174970 SIRT3 sirtuin 3 gene DOID:1749 squamous cell carcinoma ISO RGD:1318106 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472714 12174970 SIRT3 sirtuin 3 gene DOID:5844 myocardial infarction treatment ISO RGD:1308374 D RGD:9068941 20200609 RGD PMID:24471974|REF_RGD_ID:9586050 12174970 SIRT3 sirtuin 3 gene DOID:6000 congestive heart failure ISO RGD:1308374 D RGD:9068941 20200609 RGD protein:decreased expression:heart left ventricle PMID:22155497|REF_RGD_ID:9586040 12174970 SIRT3 sirtuin 3 gene DOID:630 genetic disease ISO RGD:1318106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12174970 SIRT3 sirtuin 3 gene DOID:9000307 Presbycusis ISO RGD:1308374 D RGD:9068941 20200609 RGD protein:decreased expression:auditory cortex: PMID:24505357|REF_RGD_ID:8158103 12174970 SIRT3 sirtuin 3 gene DOID:9007364 Mouth Neoplasms ISO RGD:1318106 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472714 12174970 SIRT3 sirtuin 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1318106 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet PMID:23397292|REF_RGD_ID:9586042 12174970 SIRT3 sirtuin 3 gene DOID:9970 obesity ISO RGD:1308374 D RGD:9068941 20200609 RGD PMID:21901160|REF_RGD_ID:9586047 12174970 SIRT3 sirtuin 3 gene DOID:9970 obesity ISO RGD:1318106 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23956348 12175006 SNX9 sorting nexin 9 gene DOID:10348 blepharophimosis ISO RGD:1353452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:24674232 12175006 SNX9 sorting nexin 9 gene DOID:630 genetic disease ISO RGD:1353452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175059 DLGAP4 DLG associated protein 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1331940 D RGD:9068941 20220825 MouseDO 12175059 DLGAP4 DLG associated protein 4 gene DOID:2234 focal epilepsy ISO RGD:1605091 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12175059 DLGAP4 DLG associated protein 4 gene DOID:630 genetic disease ISO RGD:1605091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175092 PPRC1 PPARG related coactivator 1 gene DOID:10283 prostate cancer ISO RGD:1320168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12175092 PPRC1 PPARG related coactivator 1 gene DOID:630 genetic disease ISO RGD:1320168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175117 SNCA synuclein alpha gene DOID:0050890 synucleinopathy ISO RGD:733186 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34332006 12175117 SNCA synuclein alpha gene DOID:0060367 Parkinson's disease 1 ISO RGD:733186 D RGD:7240710 20180130 OMIM 12175117 SNCA synuclein alpha gene DOID:0060367 Parkinson's disease 1 ISO RGD:733186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 1 PMID:10417297|PMID:11261505|PMID:11376188|PMID:12062037|PMID:14593171|PMID:14755720|PMID:15144854|PMID:15451224|PMID:15451225|PMID:16358335|PMID:17251522|PMID:17489854|PMID:17625105|PMID:18195271|PMID:18704525|PMID:18852445|PMID:18852448|PMID:18852449|PMID:19632874|PMID:20340137|PMID:20437567|PMID:21252228|PMID:21559878|PMID:23404372|PMID:23427326|PMID:23457019|PMID:23526723|PMID:24047453|PMID:24158904|PMID:24158909|PMID:24313877|PMID:24315198|PMID:24728187|PMID:24746362|PMID:24936070|PMID:24984882|PMID:25268550|PMID:25393002|PMID:25741868|PMID:25892596|PMID:26306801|PMID:26341711|PMID:26799529|PMID:26858591|PMID:27066564|PMID:27393118|PMID:28492532|PMID:29398121|PMID:30528390|PMID:31267130|PMID:33617693|PMID:9197268|PMID:9462735|PMID:9499430|PMID:9506559|PMID:9827625 12175117 SNCA synuclein alpha gene DOID:0060895 Parkinson's disease 4 ISO RGD:733186 D RGD:7240710 20180130 OMIM 12175117 SNCA synuclein alpha gene DOID:0060895 Parkinson's disease 4 ISO RGD:733186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 4 PMID:11376188|PMID:21559878|PMID:25741868|PMID:26858591|PMID:28492532|PMID:33617693 12175117 SNCA synuclein alpha gene DOID:0080855 Parkinsonism ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20464527|PMID:22319455|PMID:23046578|PMID:23295396|PMID:26075822|PMID:26558463|PMID:26687234|PMID:27026137|PMID:27324791 12175117 SNCA synuclein alpha gene DOID:0080855 Parkinsonism ISO RGD:735748 D RGD:9068941 20200609 RGD PMID:15147505|REF_RGD_ID:6478802 12175117 SNCA synuclein alpha gene DOID:0080855 Parkinsonism ISO RGD:735748 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:15499605|REF_RGD_ID:6478799 12175117 SNCA synuclein alpha gene DOID:10652 Alzheimer's disease ISO RGD:733186 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:11572944|REF_RGD_ID:1302528 12175117 SNCA synuclein alpha gene DOID:10652 Alzheimer's disease ISO RGD:733186 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:18577885|REF_RGD_ID:6478792 12175117 SNCA synuclein alpha gene DOID:11870 Pick's disease ISO RGD:733186 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus PMID:12410393|REF_RGD_ID:6480200 12175117 SNCA synuclein alpha gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:733186 D RGD:9068941 20200609 RGD protein:increased expression:cerebral spinal fluid: PMID:18625222|REF_RGD_ID:13506723 12175117 SNCA synuclein alpha gene DOID:12217 Lewy body dementia ISO RGD:733186 D RGD:7240710 20180130 OMIM 12175117 SNCA synuclein alpha gene DOID:12217 Lewy body dementia ISO RGD:733186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lewy body dementia PMID:10417297|PMID:11261505|PMID:11376188|PMID:12062037|PMID:14593171|PMID:14755719|PMID:14755720|PMID:15144854|PMID:15451224|PMID:15451225|PMID:15498564|PMID:15632170|PMID:16001411|PMID:16199547|PMID:16358335|PMID:17251522|PMID:17489854|PMID:17576681|PMID:17625105|PMID:18195271|PMID:18413475|PMID:18704525|PMID:18852445|PMID:18852448|PMID:18852449|PMID:19139307|PMID:19632874|PMID:19833540|PMID:20340137|PMID:21252228|PMID:21559878|PMID:23427326|PMID:23457019|PMID:23674501|PMID:23880019|PMID:24047453|PMID:24313877|PMID:24552873|PMID:24746362|PMID:24752924|PMID:24936070|PMID:25003242|PMID:25268550|PMID:25393002|PMID:25741868|PMID:25892596|PMID:26341711|PMID:26799529|PMID:26858591|PMID:27066564|PMID:27393118|PMID:28492532|PMID:28666710|PMID:29398121|PMID:29771508|PMID:30528390|PMID:30598256|PMID:32786148|PMID:33617693|PMID:9197268|PMID:9499430|PMID:9506559|PMID:9536098|PMID:9827625 12175117 SNCA synuclein alpha gene DOID:1289 neurodegenerative disease ISO RGD:733186 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:17296847|PMID:18514411|PMID:26075822 12175117 SNCA synuclein alpha gene DOID:13548 secondary Parkinson disease ISO RGD:733186 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34332006 12175117 SNCA synuclein alpha gene DOID:14330 Parkinson's disease ISO RGD:733186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant PMID:23427326|PMID:23457019|PMID:24047453|PMID:24752924|PMID:24936070|PMID:25393002|PMID:25741868|PMID:26341711|PMID:28492532|PMID:29398121|PMID:30528390 12175117 SNCA synuclein alpha gene DOID:1574 alcohol use disorder ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18055133 12175117 SNCA synuclein alpha gene DOID:1596 depressive disorder ISO RGD:3729 D RGD:9068941 20200609 RGD PMID:18800064|REF_RGD_ID:6218960 12175117 SNCA synuclein alpha gene DOID:1596 depressive disorder ISO RGD:733186 D RGD:9068941 20200609 RGD PMID:19198857|REF_RGD_ID:6478716 12175117 SNCA synuclein alpha gene DOID:1926 Gaucher's disease ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19576930 12175117 SNCA synuclein alpha gene DOID:3192 neurilemmoma ISO RGD:3729 D RGD:9068941 20200609 RGD protein:increased expression:cytoplasm PMID:11810180|REF_RGD_ID:6218996 12175117 SNCA synuclein alpha gene DOID:3312 bipolar disorder ISO RGD:733186 D RGD:9068941 20200609 RGD PMID:19198857|REF_RGD_ID:6478716 12175117 SNCA synuclein alpha gene DOID:3321 GM2 gangliosidosis ISO RGD:735748 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:12657883|REF_RGD_ID:6480199 12175117 SNCA synuclein alpha gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:733186 D RGD:9068941 20200609 RGD PMID:10934140|REF_RGD_ID:6480098 12175117 SNCA synuclein alpha gene DOID:4752 multiple system atrophy ISO RGD:733186 D RGD:9068941 20200609 RGD protein:increased expression:oligodendrocyte PMID:9749615|REF_RGD_ID:6480091 12175117 SNCA synuclein alpha gene DOID:5419 schizophrenia ISO RGD:733186 D RGD:9068941 20200609 RGD PMID:19198857|REF_RGD_ID:6478716 12175117 SNCA synuclein alpha gene DOID:6000 congestive heart failure ISO RGD:733186 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12175117 SNCA synuclein alpha gene DOID:630 genetic disease ISO RGD:733186 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175117 SNCA synuclein alpha gene DOID:670 amphetamine abuse ISO RGD:733186 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:15542733|PMID:32278788 12175117 SNCA synuclein alpha gene DOID:670 amphetamine abuse treatment ISO RGD:3729 D RGD:9068941 20200609 RGD PMID:20551914|REF_RGD_ID:13506280 12175117 SNCA synuclein alpha gene DOID:8646 substance-induced psychosis ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15542733 12175117 SNCA synuclein alpha gene DOID:8692 myeloid leukemia ISO RGD:733186 D RGD:9068941 20200609 RGD PMID:21264917|REF_RGD_ID:6478703 12175117 SNCA synuclein alpha gene DOID:8725 vascular dementia ISO RGD:733186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 12175117 SNCA synuclein alpha gene DOID:893 Wilson disease ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 12175117 SNCA synuclein alpha gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:733186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12175117 SNCA synuclein alpha gene DOID:9000304 Manganese Poisoning ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23934647 12175117 SNCA synuclein alpha gene DOID:9000542 Animal Lameness ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23219665 12175117 SNCA synuclein alpha gene DOID:9000998 Brain Injuries ISO RGD:3729 D RGD:9068941 20200609 RGD PMID:25089700|REF_RGD_ID:11576302 12175117 SNCA synuclein alpha gene DOID:9000998 Brain Injuries ISO RGD:735748 D RGD:9068941 20200609 RGD PMID:14637093|REF_RGD_ID:6480195 12175117 SNCA synuclein alpha gene DOID:9001981 Weight Loss ISO RGD:733186 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:32278788 12175117 SNCA synuclein alpha gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:733186 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:32278788 12175117 SNCA synuclein alpha gene DOID:9002955 Nerve Degeneration ISO RGD:733186 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21039522|PMID:23106139|PMID:27585560|PMID:34562559 12175117 SNCA synuclein alpha gene DOID:9004866 Ataxia ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31783120 12175117 SNCA synuclein alpha gene DOID:9005632 Cocaine-Related Disorders ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18055133 12175117 SNCA synuclein alpha gene DOID:9005632 Cocaine-Related Disorders ISO RGD:733186 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:dopamine neuron PMID:12684441|REF_RGD_ID:6480198 12175117 SNCA synuclein alpha gene DOID:9006205 Animal Disease Models ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892157|PMID:26075822 12175145 AGBL1 AGBL carboxypeptidase 1 gene DOID:2717 Bloom syndrome ISO RGD:1345768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12175145 AGBL1 AGBL carboxypeptidase 1 gene DOID:630 genetic disease ISO RGD:1345768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12175145 AGBL1 AGBL carboxypeptidase 1 gene DOID:9007217 Corneal Dystrophy, Fuchs Endothelial, 8 ISO RGD:1345768 D RGD:7240710 20180130 OMIM 12175145 AGBL1 AGBL carboxypeptidase 1 gene DOID:9007217 Corneal Dystrophy, Fuchs Endothelial, 8 ISO RGD:1345768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 8 PMID:24094747|PMID:25741868 12175145 AGBL1 AGBL carboxypeptidase 1 gene DOID:9256 colorectal cancer ISO RGD:1345768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12175178 LIAS lipoic acid synthetase gene DOID:3770 pulmonary fibrosis ISO RGD:1316364 D RGD:9068941 20200806 CTD CTD Direct Evidence: therapeutic PMID:32017981 12175178 LIAS lipoic acid synthetase gene DOID:552 pneumonia ISO RGD:1316364 D RGD:9068941 20200806 CTD CTD Direct Evidence: therapeutic PMID:32017981 12175178 LIAS lipoic acid synthetase gene DOID:630 genetic disease ISO RGD:1316364 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532|PMID:28817111 12175178 LIAS lipoic acid synthetase gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1316364 D RGD:7240710 20180130 OMIM 12175178 LIAS lipoic acid synthetase gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1316364 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency PMID:16199547|PMID:17576681|PMID:2152680|PMID:22152680|PMID:24334290|PMID:25741868|PMID:26108146|PMID:26467025|PMID:27923773|PMID:28492532|PMID:28817111|PMID:36680912|PMID:9536098 12175200 FAM151B family with sequence similarity 151 member B gene DOID:630 genetic disease ISO RGD:1603888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175200 FAM151B family with sequence similarity 151 member B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12175220 TGDS TDP-glucose 4,6-dehydratase gene DOID:0081122 Catel Manzke syndrome ISO RGD:1315219 D RGD:7240710 20180130 OMIM 12175220 TGDS TDP-glucose 4,6-dehydratase gene DOID:0081122 Catel Manzke syndrome ISO RGD:1315219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catel-Manzke syndrome PMID:18501694|PMID:22887726|PMID:25480037|PMID:25741868|PMID:26366375|PMID:28422407|PMID:28492532|PMID:31769200|PMID:31833187|PMID:9777339 12175220 TGDS TDP-glucose 4,6-dehydratase gene DOID:0110878 holoprosencephaly 5 ISO RGD:1315219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 12175220 TGDS TDP-glucose 4,6-dehydratase gene DOID:630 genetic disease ISO RGD:1315219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18501694|PMID:25480037|PMID:25741868|PMID:26366375|PMID:28422407|PMID:28492532|PMID:31769200|PMID:31833187 12175220 TGDS TDP-glucose 4,6-dehydratase gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1315219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12175220 TGDS TDP-glucose 4,6-dehydratase gene DOID:9006419 Congenital Microcoria ISO RGD:1315219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital miosis PMID:32672565 12175237 POU4F3 POU class 4 homeobox 3 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1321371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 12175237 POU4F3 POU class 4 homeobox 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321371 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12175237 POU4F3 POU class 4 homeobox 3 gene DOID:0110546 autosomal dominant nonsyndromic deafness 15 ISO RGD:1321371 D RGD:7240710 20180130 OMIM 12175237 POU4F3 POU class 4 homeobox 3 gene DOID:0110546 autosomal dominant nonsyndromic deafness 15 ISO RGD:1321371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 15 PMID:14585957|PMID:18228599|PMID:20434433|PMID:24033266|PMID:24260153|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29850532|PMID:30311386|PMID:32684921|PMID:32747562|PMID:9506947 12175237 POU4F3 POU class 4 homeobox 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1321371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment PMID:25741868 12175237 POU4F3 POU class 4 homeobox 3 gene DOID:630 genetic disease ISO RGD:1321371 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532|PMID:30311386 12175237 POU4F3 POU class 4 homeobox 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12175237 POU4F3 POU class 4 homeobox 3 gene DOID:9004538 Hearing Loss ISO RGD:1321371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386 12175237 POU4F3 POU class 4 homeobox 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321371 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12175237 POU4F3 POU class 4 homeobox 3 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1321371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:28492532 12175237 POU4F3 POU class 4 homeobox 3 gene DOID:9008681 Deafness ISO RGD:1321371 D RGD:9068941 20200609 RGD PMID:9506947|REF_RGD_ID:1599168 12175241 TEX9 testis expressed 9 gene DOID:2717 Bloom syndrome ISO RGD:1606392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12175241 TEX9 testis expressed 9 gene DOID:630 genetic disease ISO RGD:1606392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175241 TEX9 testis expressed 9 gene DOID:9003544 Visceral Heterotaxy 9, Autosomal ISO RGD:1606392 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 9, autosomal, with male infertility PMID:25741868|PMID:28492532|PMID:30148830|PMID:31534215 12175241 TEX9 testis expressed 9 gene DOID:9256 colorectal cancer ISO RGD:1606392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12175263 MFGE8 milk fat globule EGF and factor V/VIII domain containing gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:736002 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12175263 MFGE8 milk fat globule EGF and factor V/VIII domain containing gene DOID:13375 temporal arteritis ISO RGD:736002 D RGD:9068941 20200609 RGD PMID:11748647|REF_RGD_ID:1582497 12175263 MFGE8 milk fat globule EGF and factor V/VIII domain containing gene DOID:2717 Bloom syndrome ISO RGD:736002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12175263 MFGE8 milk fat globule EGF and factor V/VIII domain containing gene DOID:630 genetic disease ISO RGD:736002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175263 MFGE8 milk fat globule EGF and factor V/VIII domain containing gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 12175263 MFGE8 milk fat globule EGF and factor V/VIII domain containing gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21505870 12175263 MFGE8 milk fat globule EGF and factor V/VIII domain containing gene DOID:9008939 Breast Neoplasms ISO RGD:736002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127199 12175263 MFGE8 milk fat globule EGF and factor V/VIII domain containing gene DOID:9256 colorectal cancer ISO RGD:736002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12175275 SOD3 superoxide dismutase 3 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:736515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 12175275 SOD3 superoxide dismutase 3 gene DOID:10763 hypertension ISO RGD:11331 D RGD:9068941 20200609 RGD PMID:16864745|REF_RGD_ID:1581232 12175275 SOD3 superoxide dismutase 3 gene DOID:10763 hypertension ISO RGD:3733 D RGD:9068941 20200609 RGD PMID:12600899|REF_RGD_ID:1580845 12175275 SOD3 superoxide dismutase 3 gene DOID:10763 hypertension ISO RGD:736515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16864745|PMID:17023265 12175275 SOD3 superoxide dismutase 3 gene DOID:114 heart disease ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:16014615|PMID:16840738|REF_RGD_ID:1579965|REF_RGD_ID:1580843 12175275 SOD3 superoxide dismutase 3 gene DOID:1389 polyneuropathy ISO RGD:736515 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphism:exon:p.R213G (human) PMID:12815947|REF_RGD_ID:1581254 12175275 SOD3 superoxide dismutase 3 gene DOID:2316 brain ischemia ISO RGD:11331 D RGD:9068941 20200609 RGD PMID:10833313|REF_RGD_ID:1580852 12175275 SOD3 superoxide dismutase 3 gene DOID:2773 contact dermatitis ISO RGD:736515 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17392825 12175275 SOD3 superoxide dismutase 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16399992|PMID:16467073 12175275 SOD3 superoxide dismutase 3 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:736515 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R213G (human) PMID:16399992|REF_RGD_ID:1581270 12175275 SOD3 superoxide dismutase 3 gene DOID:3393 coronary artery disease ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:10811593|REF_RGD_ID:1580853 12175275 SOD3 superoxide dismutase 3 gene DOID:3770 pulmonary fibrosis ISO RGD:736515 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15298984 12175275 SOD3 superoxide dismutase 3 gene DOID:552 pneumonia ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:16842247|REF_RGD_ID:1581268 12175275 SOD3 superoxide dismutase 3 gene DOID:5844 myocardial infarction ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:14592844|REF_RGD_ID:1580841 12175275 SOD3 superoxide dismutase 3 gene DOID:6000 congestive heart failure ISO RGD:736515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 12175275 SOD3 superoxide dismutase 3 gene DOID:630 genetic disease ISO RGD:736515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175275 SOD3 superoxide dismutase 3 gene DOID:8618 oral cavity cancer ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:23057317|REF_RGD_ID:14700938 12175275 SOD3 superoxide dismutase 3 gene DOID:8805 intermediate coronary syndrome ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:14592844|REF_RGD_ID:1580841 12175275 SOD3 superoxide dismutase 3 gene DOID:8947 diabetic retinopathy ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:12663605|REF_RGD_ID:1581298 12175275 SOD3 superoxide dismutase 3 gene DOID:9000784 Fibrosis ISO RGD:11331 D RGD:9068941 20200609 RGD PMID:11880297|REF_RGD_ID:1581266 12175275 SOD3 superoxide dismutase 3 gene DOID:9000784 Fibrosis ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:11880297|REF_RGD_ID:1581266 12175275 SOD3 superoxide dismutase 3 gene DOID:9000918 Disease Progression ISO RGD:736515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 12175275 SOD3 superoxide dismutase 3 gene DOID:9001472 Nasal Polyps ISO RGD:736515 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:middle nasal turbinate, lamella (human) PMID:16540901|REF_RGD_ID:1581230 12175275 SOD3 superoxide dismutase 3 gene DOID:9001820 Pulmonary Arterial Hypertension exacerbates ISO XCO:0000642 D RGD:9068941 20220128 RGD PMID:21730301|REF_RGD_ID:14369425 12175275 SOD3 superoxide dismutase 3 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:736515 D RGD:9068941 20200609 RGD human gene in a rat model PMID:11779401|REF_RGD_ID:1581095 12175275 SOD3 superoxide dismutase 3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:11331 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:19470681|REF_RGD_ID:2312361 12175275 SOD3 superoxide dismutase 3 gene DOID:9002669 Hypoxia ISO RGD:11331 D RGD:9068941 20200609 RGD PMID:15375030|REF_RGD_ID:1581265 12175275 SOD3 superoxide dismutase 3 gene DOID:9004009 Reperfusion Injury ISO RGD:11331 D RGD:9068941 20200609 RGD PMID:15778274|REF_RGD_ID:1581264 12175275 SOD3 superoxide dismutase 3 gene DOID:9004484 Sepsis ISO RGD:3733 D RGD:9068941 20200609 RGD PMID:26266917|REF_RGD_ID:11035300 12175275 SOD3 superoxide dismutase 3 gene DOID:9005749 Necrosis ISO RGD:736515 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11529661 12175275 SOD3 superoxide dismutase 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:736515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Superoxide dismutase, elevated extracellular PMID:14662715|PMID:7662997|PMID:8034674 12175275 SOD3 superoxide dismutase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736515 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11529661 12175275 SOD3 superoxide dismutase 3 gene DOID:9007480 Hyperoxia ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:16100289|REF_RGD_ID:1581277 12175275 SOD3 superoxide dismutase 3 gene DOID:9007692 Insulin Resistance ISO RGD:736515 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma PMID:15171689|REF_RGD_ID:1625698 12175275 SOD3 superoxide dismutase 3 gene DOID:9351 diabetes mellitus ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:12830380|REF_RGD_ID:1581299 12175275 SOD3 superoxide dismutase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:15990193|REF_RGD_ID:1581225 12175281 MC1R melanocortin 1 receptor gene DOID:0060180 colitis ISO RGD:1323827 D RGD:9068941 20200609 RGD PMID:16543288|REF_RGD_ID:5687320 12175281 MC1R melanocortin 1 receptor gene DOID:0070096 oculocutaneous albinism type II ISO RGD:1323826 D RGD:7240710 20180130 OMIM 12175281 MC1R melanocortin 1 receptor gene DOID:0070096 oculocutaneous albinism type II ISO RGD:1323826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF | ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism PMID:10631149|PMID:11487574|PMID:11511307|PMID:11933208|PMID:12839583|PMID:12851329|PMID:12876664|PMID:14961558|PMID:14975928|PMID:15221796|PMID:15979202|PMID:15994880|PMID:15998953|PMID:16280005|PMID:16463023|PMID:16567973|PMID:16595073|PMID:16601669|PMID:16645598|PMID:16809487|PMID:16982779|PMID:16988943|PMID:17072629|PMID:17434924|PMID:17616515|PMID:17952075|PMID:18067130|PMID:18366057|PMID:18402696|PMID:18983535|PMID:19194882|PMID:19269164|PMID:19320745|PMID:19338054|PMID:19493000|PMID:19585506|PMID:19710684|PMID:19799798|PMID:20876876|PMID:21128237|PMID:21749400|PMID:22095472|PMID:22547573|PMID:23312576|PMID:23360207|PMID:23522749|PMID:23647022|PMID:24033266|PMID:24335900|PMID:24439955|PMID:24617981|PMID:24982914|PMID:25284244|PMID:25631192|PMID:25741868|PMID:26103569|PMID:26197705|PMID:26389780|PMID:26389967|PMID:28242083|PMID:28492532|PMID:7581459|PMID:9032047|PMID:9302268|PMID:9571181|PMID:9665397 12175281 MC1R melanocortin 1 receptor gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1323826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12175281 MC1R melanocortin 1 receptor gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1323826 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12175281 MC1R melanocortin 1 receptor gene DOID:12306 vitiligo ISO RGD:1323826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 12175281 MC1R melanocortin 1 receptor gene DOID:13636 Fanconi anemia ISO RGD:1323826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29098742|PMID:9721219 12175281 MC1R melanocortin 1 receptor gene DOID:1470 major depressive disorder ISO RGD:1323826 D RGD:9068941 20200609 RGD DNA:SNP:cds: rs885479,R163Q PMID:21052032|REF_RGD_ID:5687198 12175281 MC1R melanocortin 1 receptor gene DOID:1612 breast cancer ISO RGD:1323826 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm PMID:10631149|PMID:12876664|PMID:15994880|PMID:16601669|PMID:17616515|PMID:17952075|PMID:19320745|PMID:19585506|PMID:19710684|PMID:21128237|PMID:24439955|PMID:25631192|PMID:25741868|PMID:26389780|PMID:26389967|PMID:28492532|PMID:9302268|PMID:9665397 12175281 MC1R melanocortin 1 receptor gene DOID:1909 melanoma ISO RGD:1323826 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Malignant Melanoma Susceptibility | ClinVar Annotator: match by term: Melanoma PMID:16809487|PMID:16982779|PMID:17616515|PMID:18366057|PMID:19799798|PMID:21128237|PMID:23647022|PMID:24033266|PMID:25741868|PMID:26103569|PMID:26197705|PMID:28492532|PMID:7581459 12175281 MC1R melanocortin 1 receptor gene DOID:2513 basal cell carcinoma ISO RGD:1323826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539553 12175281 MC1R melanocortin 1 receptor gene DOID:3042 allergic contact dermatitis ISO RGD:1323827 D RGD:9068941 20200609 RGD PMID:20126537|REF_RGD_ID:5687319 12175281 MC1R melanocortin 1 receptor gene DOID:3310 atopic dermatitis ISO RGD:1323827 D RGD:9068941 20200609 RGD protein: increased expression: skin PMID:19889022|REF_RGD_ID:5687321 12175281 MC1R melanocortin 1 receptor gene DOID:630 genetic disease ISO RGD:1323826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12175281 MC1R melanocortin 1 receptor gene DOID:6741 bilateral breast cancer ISO RGD:1323826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: bilateral breast cancer PMID:16809487|PMID:16982779|PMID:24335900|PMID:24982914|PMID:25741868|PMID:28492532 12175281 MC1R melanocortin 1 receptor gene DOID:6846 familial melanoma ISO RGD:1323826 D RGD:7240710 20180130 OMIM 12175281 MC1R melanocortin 1 receptor gene DOID:6846 familial melanoma ISO RGD:1323826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10403794|PMID:10631149|PMID:10733465|PMID:10816645|PMID:11030758|PMID:11254446|PMID:11487574|PMID:11511307|PMID:11707265|PMID:11933208|PMID:12687585|PMID:12839583|PMID:12851329|PMID:12876664|PMID:14757863|PMID:14961558|PMID:14975928|PMID:15221796|PMID:15957185|PMID:15979202|PMID:15994880|PMID:15998953|PMID:16172233|PMID:16280005|PMID:16309897|PMID:16463023|PMID:16567973|PMID:16595073|PMID:16601669|PMID:16645598|PMID:16809487|PMID:16982779|PMID:16988943|PMID:17072629|PMID:17279550|PMID:17316231|PMID:17434924|PMID:17496785|PMID:17616515|PMID:17952075|PMID:18067130|PMID:18366057|PMID:18402696|PMID:18795926|PMID:18803811|PMID:18839200|PMID:18983535|PMID:19194882|PMID:19269164|PMID:19320745|PMID:19338054|PMID:19493000|PMID:19585506|PMID:19656326|PMID:19710684|PMID:19799798|PMID:19924138|PMID:20043015|PMID:20158590|PMID:20457063|PMID:20629734|PMID:20876876|PMID:21128237|PMID:21672182|PMID:21749400|PMID:22079958|PMID:22095472|PMID:22095742|PMID:22493355|PMID:22547573|PMID:22854540|PMID:22978401|PMID:23312576|PMID:23360207|PMID:23384855|PMID:23522749|PMID:23647022|PMID:23711066|PMID:24033266|PMID:24045876|PMID:24238329|PMID:24335900|PMID:24439955|PMID:24617981|PMID:24982914|PMID:25268584|PMID:25284244|PMID:25631192|PMID:25736238|PMID:25741868|PMID:25794181|PMID:26103569|PMID:26197705|PMID:26389967|PMID:26546047|PMID:26800492|PMID:27084066|PMID:27229376|PMID:27473757|PMID:28166811|PMID:28242083|PMID:28492532|PMID:28869973|PMID:29340229|PMID:31382929|PMID:7581459|PMID:8894704|PMID:8944016|PMID:8990005|PMID:9032047|PMID:9302268|PMID:9571181|PMID:9665397 12175281 MC1R melanocortin 1 receptor gene DOID:6846 familial melanoma ISO RGD:1323826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10403794|PMID:10631149|PMID:10733465|PMID:10816645|PMID:11030758|PMID:11254446|PMID:11487574|PMID:11511307|PMID:11707265|PMID:11933208|PMID:12687585|PMID:12839583|PMID:12851329|PMID:12876664|PMID:14757863|PMID:14961558|PMID:14975928|PMID:15221796|PMID:15957185|PMID:15979202|PMID:15994880|PMID:15998953|PMID:16172233|PMID:16280005|PMID:16309897|PMID:16463023|PMID:16567973|PMID:16595073|PMID:16601669|PMID:16645598|PMID:16809487|PMID:16982779|PMID:16988943|PMID:17072629|PMID:17279550|PMID:17316231|PMID:17434924|PMID:17496785|PMID:17616515|PMID:17952075|PMID:18067130|PMID:18366057|PMID:18402696|PMID:18795926|PMID:18803811|PMID:18839200|PMID:18983535|PMID:19194882|PMID:19269164|PMID:19320745|PMID:19338054|PMID:19493000|PMID:19585506|PMID:19656326|PMID:19710684|PMID:19799798|PMID:19924138|PMID:20043015|PMID:20158590|PMID:20457063|PMID:20629734|PMID:20876876|PMID:21128237|PMID:21430882|PMID:21672182|PMID:21749400|PMID:22079958|PMID:22095472|PMID:22095742|PMID:22493355|PMID:22547573|PMID:22854540|PMID:22978401|PMID:23312576|PMID:23360207|PMID:23522749|PMID:23647022|PMID:24033266|PMID:24045876|PMID:24238329|PMID:24335900|PMID:24439955|PMID:24617981|PMID:24982914|PMID:25268584|PMID:25284244|PMID:25631192|PMID:25736238|PMID:25741868|PMID:25794181|PMID:26103569|PMID:26197705|PMID:26389967|PMID:26800492|PMID:27084066|PMID:27473757|PMID:28166811|PMID:28242083|PMID:28492532|PMID:28869973|PMID:29340229|PMID:31382929|PMID:7581459|PMID:8894704|PMID:8944016|PMID:8990005|PMID:9032047|PMID:9302268|PMID:9571181|PMID:9665397 12175281 MC1R melanocortin 1 receptor gene DOID:6846 familial melanoma ISO RGD:1323826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10403794|PMID:10631149|PMID:10733465|PMID:10816645|PMID:11030758|PMID:11254446|PMID:11487574|PMID:11511307|PMID:11707265|PMID:11933208|PMID:12687585|PMID:12839583|PMID:12851329|PMID:12876664|PMID:14757863|PMID:14961558|PMID:14975928|PMID:15221796|PMID:15957185|PMID:15979202|PMID:15994880|PMID:15998953|PMID:16172233|PMID:16280005|PMID:16309897|PMID:16463023|PMID:16567973|PMID:16595073|PMID:16601669|PMID:16645598|PMID:16809487|PMID:16982779|PMID:16988943|PMID:17072629|PMID:17279550|PMID:17316231|PMID:17434924|PMID:17496785|PMID:17616515|PMID:17952075|PMID:18067130|PMID:18366057|PMID:18402696|PMID:18795926|PMID:18803811|PMID:18839200|PMID:18983535|PMID:19194882|PMID:19269164|PMID:19320745|PMID:19338054|PMID:19493000|PMID:19585506|PMID:19656326|PMID:19710684|PMID:19799798|PMID:19924138|PMID:20043015|PMID:20158590|PMID:20457063|PMID:20629734|PMID:20876876|PMID:21128237|PMID:21430882|PMID:21672182|PMID:21749400|PMID:22079958|PMID:22095472|PMID:22095742|PMID:22493355|PMID:22547573|PMID:22854540|PMID:22978401|PMID:23312576|PMID:23360207|PMID:23384855|PMID:23522749|PMID:23647022|PMID:23711066|PMID:24033266|PMID:24045876|PMID:24238329|PMID:24335900|PMID:24439955|PMID:24617981|PMID:24660985|PMID:24982914|PMID:25268584|PMID:25284244|PMID:25631192|PMID:25736238|PMID:25741868|PMID:25794181|PMID:26103569|PMID:26197705|PMID:26389780|PMID:26389967|PMID:26800492|PMID:27084066|PMID:27229376|PMID:27473757|PMID:28242083|PMID:28492532|PMID:28869973|PMID:29340229|PMID:31382929|PMID:7581459|PMID:8605020|PMID:8894704|PMID:8944016|PMID:8990005|PMID:9032047|PMID:9302268|PMID:9571181|PMID:9665397 12175281 MC1R melanocortin 1 receptor gene DOID:874 bacterial pneumonia ISO RGD:1323827 D RGD:9068941 20200609 RGD PMID:18304533|REF_RGD_ID:5687324 12175281 MC1R melanocortin 1 receptor gene DOID:9000881 Cutaneous Malignant Melanoma, Susceptibility To, 1 ISO RGD:1323826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 PMID:16809487|PMID:17279550|PMID:17316231|PMID:18067130|PMID:18803811|PMID:19585506|PMID:20876876|PMID:28492532 12175281 MC1R melanocortin 1 receptor gene DOID:9002211 Hyperalgesia ISO RGD:1323826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19996949 12175281 MC1R melanocortin 1 receptor gene DOID:9002782 UV-Induced Skin Damage ISO RGD:1323826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: UV-induced skin damage, susceptibility to PMID:16463023|PMID:28492532 12175281 MC1R melanocortin 1 receptor gene DOID:9003838 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 ISO RGD:1323826 D RGD:7240710 20210421 OMIM 12175281 MC1R melanocortin 1 receptor gene DOID:9003838 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 ISO RGD:1323826 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RED HAIR COLOR | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 2 PMID:10631149|PMID:12839583|PMID:16601669|PMID:17072629|PMID:17616515|PMID:18067130|PMID:19585506|PMID:19710684|PMID:21128237|PMID:23522749|PMID:23647022|PMID:24335900|PMID:25741868|PMID:26197705|PMID:28242083|PMID:28492532|PMID:9302268 12175281 MC1R melanocortin 1 receptor gene DOID:9004009 Reperfusion Injury no_association ISO RGD:1323827 D RGD:9068941 20200609 RGD PMID:18757499|REF_RGD_ID:5687323 12175281 MC1R melanocortin 1 receptor gene DOID:9004118 Experimental Melanoma ISO RGD:1323827 D RGD:9068941 20200609 RGD PMID:20126537|REF_RGD_ID:5687319 12175281 MC1R melanocortin 1 receptor gene DOID:9004713 Acute-Phase Reaction ISO RGD:1312046 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:22183812|REF_RGD_ID:6484138 12175281 MC1R melanocortin 1 receptor gene DOID:9005660 Hypopigmentation ISO RGD:1323826 D RGD:9068941 20200609 RGD DNA:missense mutations,insertions:cds:multiple PMID:11030758|REF_RGD_ID:1600618 12175281 MC1R melanocortin 1 receptor gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1312046 D RGD:9068941 20200609 RGD protein:decreased expression:kidney outer medulla PMID:18790174|REF_RGD_ID:5687322 12175281 MC1R melanocortin 1 receptor gene DOID:9007480 Hyperoxia ISO RGD:1323827 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:8110467|REF_RGD_ID:6484136 12175281 MC1R melanocortin 1 receptor gene DOID:9008103 Seasonal Allergic Rhinitis no_association ISO RGD:1323827 D RGD:9068941 20200609 RGD PMID:20357480|REF_RGD_ID:5687317 12175284 FSCN1 fascin actin-bundling protein 1 gene DOID:1793 pancreatic cancer severity ISO RGD:1344433 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:17696949|REF_RGD_ID:2317785 12175284 FSCN1 fascin actin-bundling protein 1 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1344433 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:12109856|REF_RGD_ID:2317790 12175284 FSCN1 fascin actin-bundling protein 1 gene DOID:4608 common bile duct neoplasm ISO RGD:1344433 D RGD:9068941 20200609 RGD mRNA, protein:increased expression: : PMID:15136764|REF_RGD_ID:2317789 12175284 FSCN1 fascin actin-bundling protein 1 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1344433 D RGD:9068941 20200609 RGD protein:increased expression:bile ducts PMID:19721413|REF_RGD_ID:2317780 12175284 FSCN1 fascin actin-bundling protein 1 gene DOID:630 genetic disease ISO RGD:1344433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175284 FSCN1 fascin actin-bundling protein 1 gene DOID:9000011 Gallbladder Neoplasms severity ISO RGD:1344433 D RGD:9068941 20200609 RGD PMID:19259612|REF_RGD_ID:2317784 12175284 FSCN1 fascin actin-bundling protein 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344433 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:15626919|REF_RGD_ID:2317788 12175284 FSCN1 fascin actin-bundling protein 1 gene DOID:9002936 Bile Duct Neoplasms disease_progression ISO RGD:1344433 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:17419223|REF_RGD_ID:2317786 12175293 ITGAL integrin subunit alpha L gene DOID:0050589 inflammatory bowel disease ISO RGD:1352170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28067908 12175293 ITGAL integrin subunit alpha L gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1352170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16764927 12175293 ITGAL integrin subunit alpha L gene DOID:10952 nephritis treatment ISO RGD:631424 D RGD:9068941 20200609 RGD PMID:8773354|REF_RGD_ID:8547716 12175293 ITGAL integrin subunit alpha L gene DOID:13241 Behcet's disease ISO RGD:1352170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8712863 12175293 ITGAL integrin subunit alpha L gene DOID:2661 myoepithelioma ISO RGD:1352170 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12175293 ITGAL integrin subunit alpha L gene DOID:630 genetic disease ISO RGD:1352170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175293 ITGAL integrin subunit alpha L gene DOID:9001472 Nasal Polyps ISO RGD:1352170 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium PMID:11593541|REF_RGD_ID:8547687 12175293 ITGAL integrin subunit alpha L gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12175293 ITGAL integrin subunit alpha L gene DOID:9005372 Inflammation ISO RGD:1550382 D RGD:9068941 20200609 RGD associated with Sjogren's Syndrome PMID:15037117|REF_RGD_ID:8547696 12175331 PDXDC1 pyridoxal dependent decarboxylase domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1604634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12175331 PDXDC1 pyridoxal dependent decarboxylase domain containing 1 gene DOID:1826 epilepsy ISO RGD:1604634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12175331 PDXDC1 pyridoxal dependent decarboxylase domain containing 1 gene DOID:4450 renal cell carcinoma ISO RGD:1604634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 12175331 PDXDC1 pyridoxal dependent decarboxylase domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1604634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12175331 PDXDC1 pyridoxal dependent decarboxylase domain containing 1 gene DOID:630 genetic disease ISO RGD:1604634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175367 MXRA5 matrix remodeling associated 5 gene DOID:10283 prostate cancer ISO RGD:1344277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12175367 MXRA5 matrix remodeling associated 5 gene DOID:1184 nephrotic syndrome ISO RGD:1344277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:29127259 12175367 MXRA5 matrix remodeling associated 5 gene DOID:12849 autistic disorder ISO RGD:1344277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12175367 MXRA5 matrix remodeling associated 5 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344277 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22696596 12175367 MXRA5 matrix remodeling associated 5 gene DOID:630 genetic disease ISO RGD:1344277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175367 MXRA5 matrix remodeling associated 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12175367 MXRA5 matrix remodeling associated 5 gene DOID:9007661 Dwarfism ISO RGD:1344277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12175380 CXCL16 C-X-C motif chemokine ligand 16 gene DOID:0080600 COVID-19 ISO RGD:1354459 D RGD:9068941 20200618 RGD protein:increased expression:serum: PMID:32416070|REF_RGD_ID:30296676 12175380 CXCL16 C-X-C motif chemokine ligand 16 gene DOID:10533 viral pneumonia ISO RGD:1354459 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12175380 CXCL16 C-X-C motif chemokine ligand 16 gene DOID:418 systemic scleroderma ISO RGD:1354459 D RGD:9068941 20200609 RGD protein:increased expression:serum, skin, endothelial cell PMID:21303517|REF_RGD_ID:5135279 12175380 CXCL16 C-X-C motif chemokine ligand 16 gene DOID:630 genetic disease ISO RGD:1354459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175380 CXCL16 C-X-C motif chemokine ligand 16 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12175388 HSPA13 heat shock protein family A (Hsp70) member 13 gene DOID:10652 Alzheimer's disease ISO RGD:735529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 12175388 HSPA13 heat shock protein family A (Hsp70) member 13 gene DOID:630 genetic disease ISO RGD:735529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175388 HSPA13 heat shock protein family A (Hsp70) member 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12175404 RTP3 receptor transporter protein 3 gene DOID:630 genetic disease ISO RGD:1353966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175404 RTP3 receptor transporter protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1353966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17693185 12175404 RTP3 receptor transporter protein 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12175404 RTP3 receptor transporter protein 3 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1353966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12175404 RTP3 receptor transporter protein 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1353966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17693185 12175410 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1313408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12175410 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1313408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12175410 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1313408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12175410 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:0080600 COVID-19 ISO RGD:1313408 D RGD:9068941 20210122 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12175410 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:0111995 immunodeficiency 28 ISO RGD:1313408 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 28 PMID:28492532 12175410 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:10533 viral pneumonia disease_progression ISO RGD:1313409 D RGD:9068941 20210122 RGD PMID:21383977|REF_RGD_ID:5490272 12175410 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:12155 lymphocytic choriomeningitis ISO RGD:732185 D RGD:9068941 20210326 RGD PMID:24760883|REF_RGD_ID:124715479 12175410 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:12155 lymphocytic choriomeningitis disease_progression ISO RGD:1313409 D RGD:9068941 20210326 RGD DNA:mutation: : PMID:28878077|REF_RGD_ID:124715467 12175410 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:1883 hepatitis C resistance ISO RGD:1313408 D RGD:9068941 20210122 RGD PMID:21756311|REF_RGD_ID:5147491 12175410 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:552 pneumonia resistance ISO RGD:1313409 D RGD:9068941 20210122 RGD Cryptococcus (yeast) pneumonia PMID:18566423|REF_RGD_ID:5490275 12175410 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:630 genetic disease ISO RGD:1313408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12175410 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:8704 genital herpes exacerbates ISO RGD:1313409 D RGD:9068941 20210402 RGD PMID:28264883|REF_RGD_ID:125093738 12175410 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:874 bacterial pneumonia severity ISO RGD:1313409 D RGD:9068941 20210122 RGD PMID:19487810|REF_RGD_ID:5490274 12175410 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:9001049 Staphylococcal Pneumonia susceptibility ISO RGD:1313409 D RGD:9068941 20210122 RGD PMID:19603548|REF_RGD_ID:5490273 12175410 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:9004531 Cardiovirus Infections ISO RGD:1305399 D RGD:9068941 20210122 RGD PMID:27999109|REF_RGD_ID:12910492 12175410 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:9004531 Cardiovirus Infections susceptibility ISO RGD:1305399 D RGD:9068941 20210122 RGD PMID:27999109|REF_RGD_ID:12910492 12175410 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1305399 D RGD:9068941 20210122 RGD PMID:27999109|REF_RGD_ID:12910492 12175410 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:9005698 ZTTK Syndrome ISO RGD:1313408 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 12175410 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:9006471 Immunodeficiency 106 ISO RGD:1313408 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 106, susceptibility to viral infections PMID:25741868|PMID:28492532|PMID:31270247|PMID:32960813|PMID:33252644|PMID:34713375|PMID:35091979|PMID:35442418|PMID:35708626 12175410 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:9006471 Immunodeficiency 106 susceptibility ISO RGD:1313408 D RGD:7240710 20220720 OMIM 12175410 IFNAR1 interferon alpha and beta receptor subunit 1 gene DOID:934 viral infectious disease ISO RGD:1313408 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:18722370 12175428 AGBL4 AGBL carboxypeptidase 4 gene DOID:0060224 atrial fibrillation ISO RGD:1606202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12175428 AGBL4 AGBL carboxypeptidase 4 gene DOID:10283 prostate cancer ISO RGD:1606202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12175428 AGBL4 AGBL carboxypeptidase 4 gene DOID:303 substance-related disorder ISO RGD:1606202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12175428 AGBL4 AGBL carboxypeptidase 4 gene DOID:630 genetic disease ISO RGD:1606202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175428 AGBL4 AGBL carboxypeptidase 4 gene DOID:9008582 Developmental Disease ISO RGD:1606202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder 12175451 HNF1B HNF1 homeobox B gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:69136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:12161522|PMID:15930087|PMID:17116179|PMID:17878605|PMID:18249217|PMID:18644064|PMID:21380624|PMID:21775974|PMID:25536396|PMID:25700310|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31498910|PMID:31825128|PMID:32708349|PMID:33532864|PMID:33663443|PMID:33851123 12175451 HNF1B HNF1 homeobox B gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69136 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10868855|PMID:11845238|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16249435|PMID:16971658|PMID:17337496|PMID:18528323|PMID:19228875|PMID:19389850|PMID:19639018|PMID:20378641|PMID:20603712|PMID:21163139|PMID:21380624|PMID:21775974|PMID:22051731|PMID:22432796|PMID:22706971|PMID:24033266|PMID:24254850|PMID:24429398|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741868|PMID:26467025|PMID:26489027|PMID:26552609|PMID:26899772|PMID:27234567|PMID:27297286|PMID:28274157|PMID:28492532|PMID:29927023|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30663027|PMID:31198537|PMID:31365591|PMID:31825128|PMID:32266039|PMID:33259036|PMID:33532864 12175451 HNF1B HNF1 homeobox B gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69136 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10868855|PMID:11845238|PMID:12478351|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16133182|PMID:16249435|PMID:16801329|PMID:16971658|PMID:17337496|PMID:18528323|PMID:19228875|PMID:19389850|PMID:19639018|PMID:20378641|PMID:20603712|PMID:20633866|PMID:21163139|PMID:21380624|PMID:21775974|PMID:22051731|PMID:22432796|PMID:22706971|PMID:24033266|PMID:24097065|PMID:24254850|PMID:24429398|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:26489027|PMID:26552609|PMID:26899772|PMID:27234567|PMID:27297286|PMID:27615128|PMID:27913849|PMID:28166811|PMID:28215227|PMID:28251383|PMID:28274157|PMID:28420700|PMID:28492532|PMID:29207974|PMID:2976441|PMID:29764441|PMID:29927023|PMID:30191644|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30663027|PMID:30666461|PMID:31198537|PMID:31365591|PMID:31825128|PMID:32266039|PMID:33259036|PMID:33434175|PMID:33532864|PMID:9398836 12175451 HNF1B HNF1 homeobox B gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10868855|PMID:11845238|PMID:12148114|PMID:12478351|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16133182|PMID:16249435|PMID:16801329|PMID:16971658|PMID:17337496|PMID:18528323|PMID:19228875|PMID:19389850|PMID:19639018|PMID:20378641|PMID:20603712|PMID:20633866|PMID:21163139|PMID:21380624|PMID:21775974|PMID:22051731|PMID:22432796|PMID:22706971|PMID:24033266|PMID:24097065|PMID:24254850|PMID:24429398|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:26489027|PMID:26552609|PMID:26899772|PMID:27234567|PMID:27297286|PMID:27615128|PMID:27913849|PMID:28166811|PMID:28215227|PMID:28251383|PMID:28274157|PMID:28420700|PMID:28492532|PMID:29100090|PMID:29207974|PMID:2976441|PMID:29764441|PMID:29927023|PMID:30191644|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30663027|PMID:30666461|PMID:31057226|PMID:31198537|PMID:31365591|PMID:31825128|PMID:32164334|PMID:32266039|PMID:33259036|PMID:33434175|PMID:33532864|PMID:9398836 12175451 HNF1B HNF1 homeobox B gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10868855|PMID:11845238|PMID:12148114|PMID:12478351|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16133182|PMID:16249435|PMID:16801329|PMID:16971658|PMID:17337496|PMID:18528323|PMID:19228875|PMID:19389850|PMID:19639018|PMID:20378641|PMID:20603712|PMID:20633866|PMID:21163139|PMID:21380624|PMID:21775974|PMID:22051731|PMID:22432796|PMID:22706971|PMID:24033266|PMID:24097065|PMID:24254850|PMID:24429398|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:26489027|PMID:26552609|PMID:26899772|PMID:27234567|PMID:27297286|PMID:27615128|PMID:27913849|PMID:28215227|PMID:28251383|PMID:28274157|PMID:28420700|PMID:28492532|PMID:29100090|PMID:29207974|PMID:2976441|PMID:29764441|PMID:29927023|PMID:30191644|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30663027|PMID:30666461|PMID:31057226|PMID:31198537|PMID:31365591|PMID:31825128|PMID:32164334|PMID:32266039|PMID:33259036|PMID:33434175|PMID:33532864|PMID:9398836 12175451 HNF1B HNF1 homeobox B gene DOID:0050770 polycystic liver disease ISO RGD:69136 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:15930087|PMID:16249435|PMID:18065799|PMID:19639018|PMID:20633866|PMID:21775974|PMID:22114815|PMID:24033266|PMID:24041679|PMID:24097065|PMID:24429398|PMID:24897035|PMID:25536396|PMID:25700310|PMID:25741868|PMID:26467025|PMID:26899772|PMID:28492532|PMID:30259503 12175451 HNF1B HNF1 homeobox B gene DOID:0060041 autism spectrum disorder ISO RGD:69136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 12175451 HNF1B HNF1 homeobox B gene DOID:0060062 familial juvenile hyperuricemic nephropathy ISO RGD:69136 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant tubulointerstitial kidney disease PMID:12161522|PMID:17878605|PMID:25536396|PMID:25700310|PMID:25741868|PMID:26467025|PMID:33532864 12175451 HNF1B HNF1 homeobox B gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:69136 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 12175451 HNF1B HNF1 homeobox B gene DOID:0080205 CAKUT ISO RGD:69136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:15930087|PMID:16249435|PMID:16371430|PMID:17116179|PMID:18249217|PMID:18644064|PMID:20155289|PMID:21380624|PMID:21775974|PMID:23539225|PMID:24387224|PMID:24429398|PMID:24897035|PMID:24961278|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25741868|PMID:26024028|PMID:26059258|PMID:26226118|PMID:26467025|PMID:28492532|PMID:30143558|PMID:31825128|PMID:32708349|PMID:33532864|PMID:33663443 12175451 HNF1B HNF1 homeobox B gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:12161522|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16249435|PMID:17116179|PMID:17878605|PMID:18249217|PMID:18644064|PMID:19639018|PMID:20378641|PMID:21380624|PMID:21775974|PMID:22051731|PMID:24254850|PMID:24897035|PMID:25441779|PMID:25536396|PMID:25700310|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:27615128|PMID:28215227|PMID:28492532|PMID:29927023|PMID:30481753|PMID:30655312|PMID:31198537|PMID:31498910|PMID:31825128|PMID:32266039|PMID:32708349|PMID:33434175|PMID:33532864|PMID:33663443|PMID:33851123 12175451 HNF1B HNF1 homeobox B gene DOID:0111101 maturity-onset diabetes of the young type 5 ISO RGD:69136 D RGD:7240710 20180130 OMIM 12175451 HNF1B HNF1 homeobox B gene DOID:0111101 maturity-onset diabetes of the young type 5 ISO RGD:69136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal cysts and diabetes syndrome PMID:10484768|PMID:10672455|PMID:10720943|PMID:10758154|PMID:10868855|PMID:11085914|PMID:11317673|PMID:11562418|PMID:11845237|PMID:11845238|PMID:11918730|PMID:12148114|PMID:12161522|PMID:12460054|PMID:12478351|PMID:12675839|PMID:14583183|PMID:15001636|PMID:15068978|PMID:15085338|PMID:15168014|PMID:15181075|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16133182|PMID:16199547|PMID:16249435|PMID:16371430|PMID:16801329|PMID:16971658|PMID:17116179|PMID:17267738|PMID:17337496|PMID:17440011|PMID:17878605|PMID:17924661|PMID:18065799|PMID:18249217|PMID:18528323|PMID:18644064|PMID:19228875|PMID:19346182|PMID:19389850|PMID:19639018|PMID:20155289|PMID:20378641|PMID:20543213|PMID:20603712|PMID:20633866|PMID:21163139|PMID:21380624|PMID:21617276|PMID:21775974|PMID:22034641|PMID:22051731|PMID:22060211|PMID:22114815|PMID:22432796|PMID:22641569|PMID:22706971|PMID:23520208|PMID:23539225|PMID:23926411|PMID:23979948|PMID:24033266|PMID:24041679|PMID:24097065|PMID:24254850|PMID:24382792|PMID:24387224|PMID:24429398|PMID:24476040|PMID:24698406|PMID:24897035|PMID:24961278|PMID:25041077|PMID:25265965|PMID:25367728|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741167|PMID:25741868|PMID:25754277|PMID:26024028|PMID:26059258|PMID:26226118|PMID:2624270|PMID:26319241|PMID:26340261|PMID:26417411|PMID:26467025|PMID:26489027|PMID:26489029|PMID:26669242|PMID:26899772|PMID:27229139|PMID:27234567|PMID:27297286|PMID:27615128|PMID:27657687|PMID:27838256|PMID:27913849|PMID:28215227|PMID:28251383|PMID:28420700|PMID:28492532|PMID:28502589|PMID:28593362|PMID:28912863|PMID:29100090|PMID:29207974|PMID:29406598|PMID:29491316|PMID:2976441|PMID:29764441|PMID:29927023|PMID:30143558|PMID:30191644|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30663027|PMID:30666461|PMID:30773290|PMID:31131422|PMID:31198537|PMID:31365591|PMID:31498910|PMID:31604004|PMID:31825128|PMID:32164334|PMID:32266039|PMID:32708349|PMID:33259036|PMID:33305128|PMID:33434175|PMID:33532864|PMID:33574344|PMID:33663443|PMID:33851123|PMID:7151342|PMID:9398836|PMID:9703339 12175451 HNF1B HNF1 homeobox B gene DOID:12849 autistic disorder ISO RGD:69136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12175451 HNF1B HNF1 homeobox B gene DOID:2394 ovarian cancer ISO RGD:69136 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:12161522|PMID:25700310|PMID:25741868 12175451 HNF1B HNF1 homeobox B gene DOID:26 pancreas disease ISO RGD:69136 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:missense, nonsense mutations:cds:multiple (human) PMID:15068978|REF_RGD_ID:2312751 12175451 HNF1B HNF1 homeobox B gene DOID:4450 renal cell carcinoma ISO RGD:69136 D RGD:7240710 20180130 OMIM 12175451 HNF1B HNF1 homeobox B gene DOID:4471 chromophobe renal cell carcinoma ISO RGD:69136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromophobe renal cell carcinoma PMID:15649945|PMID:16371430|PMID:25536396|PMID:25700310|PMID:25741868 12175451 HNF1B HNF1 homeobox B gene DOID:5419 schizophrenia ISO RGD:69136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12175451 HNF1B HNF1 homeobox B gene DOID:557 kidney disease ISO RGD:69136 D RGD:9068941 20200609 RGD DNA:mutation, deletions::multiple PMID:16971658|REF_RGD_ID:10402549 12175451 HNF1B HNF1 homeobox B gene DOID:557 kidney disease ISO RGD:69136 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:deletion:cds:multiple (human) PMID:17971380|REF_RGD_ID:2312749 12175451 HNF1B HNF1 homeobox B gene DOID:630 genetic disease ISO RGD:69136 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11845237|PMID:11845238|PMID:15509593|PMID:15930087|PMID:16133182|PMID:19389850|PMID:20378641|PMID:20633866|PMID:22432796|PMID:25536396|PMID:25700310|PMID:25741868|PMID:30773290|PMID:33305128 12175451 HNF1B HNF1 homeobox B gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:69136 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease PMID:15930087|PMID:16249435|PMID:18065799|PMID:19639018|PMID:20633866|PMID:21775974|PMID:22114815|PMID:24033266|PMID:24041679|PMID:24097065|PMID:24429398|PMID:24897035|PMID:25536396|PMID:25700310|PMID:25741868|PMID:26467025|PMID:26899772|PMID:28492532|PMID:30259503 12175451 HNF1B HNF1 homeobox B gene DOID:9002304 Prostatic Neoplasms ISO RGD:69136 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264096|PMID:18758462 12175451 HNF1B HNF1 homeobox B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12175451 HNF1B HNF1 homeobox B gene DOID:9004645 Familial Juvenile Hyperuricemic Nephropathy 3 ISO RGD:69136 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperuricemic nephropathy, familial juvenile type 3 PMID:19639018|PMID:24897035|PMID:25536396|PMID:25741167|PMID:25741868|PMID:26340261|PMID:27615128|PMID:28215227|PMID:28492532|PMID:33434175 12175451 HNF1B HNF1 homeobox B gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:69136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 12175451 HNF1B HNF1 homeobox B gene DOID:9351 diabetes mellitus ISO RGD:69136 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:15930087|PMID:16249435|PMID:18065799|PMID:19639018|PMID:20633866|PMID:21775974|PMID:22114815|PMID:24033266|PMID:24041679|PMID:24097065|PMID:24429398|PMID:24897035|PMID:25536396|PMID:25700310|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:26899772|PMID:27615128|PMID:28215227|PMID:28492532|PMID:30259503|PMID:33434175 12175451 HNF1B HNF1 homeobox B gene DOID:9352 type 2 diabetes mellitus ISO RGD:69136 D RGD:7240710 20180130 OMIM 12175451 HNF1B HNF1 homeobox B gene DOID:9352 type 2 diabetes mellitus ISO RGD:69136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus PMID:12161522|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16249435|PMID:17116179|PMID:17878605|PMID:18249217|PMID:18644064|PMID:19639018|PMID:20378641|PMID:21380624|PMID:21775974|PMID:22051731|PMID:24254850|PMID:24897035|PMID:25441779|PMID:25536396|PMID:25700310|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:27615128|PMID:28215227|PMID:28492532|PMID:29927023|PMID:30481753|PMID:30655312|PMID:31198537|PMID:31498910|PMID:31825128|PMID:32266039|PMID:32708349|PMID:33434175|PMID:33532864|PMID:33663443|PMID:33851123 12175451 HNF1B HNF1 homeobox B gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:69136 D RGD:9068941 20200609 RGD PMID:15883474|REF_RGD_ID:2312750 12175451 HNF1B HNF1 homeobox B gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69136 D RGD:9068941 20200609 RGD renal cysts and diabetes syndrome, OMIM:137920;DNA:splice-site mutation:intron:IVS2+1G>A PMID:11317673|REF_RGD_ID:1601484 12175475 KIAA1671 KIAA1671 gene DOID:630 genetic disease ISO RGD:2311473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175514 REEP2 receptor accessory protein 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1346917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12175514 REEP2 receptor accessory protein 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346917 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12175514 REEP2 receptor accessory protein 2 gene DOID:0110817 hereditary spastic paraplegia 72 ISO RGD:1346917 D RGD:7240710 20180130 OMIM 12175514 REEP2 receptor accessory protein 2 gene DOID:0110817 hereditary spastic paraplegia 72 ISO RGD:1346917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 72 | ClinVar Annotator: match by term: Spastic paraplegia 72, autosomal dominant PMID:17576681|PMID:24388663|PMID:24482476|PMID:25741868|PMID:28491902|PMID:28492532|PMID:33526816|PMID:9536098 12175514 REEP2 receptor accessory protein 2 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1346917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12175514 REEP2 receptor accessory protein 2 gene DOID:630 genetic disease ISO RGD:1346917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12175514 REEP2 receptor accessory protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12175514 REEP2 receptor accessory protein 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346917 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12175531 TRIM52 tripartite motif containing 52 gene DOID:630 genetic disease ISO RGD:1347364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175546 H2AP H2A.P histone gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12175546 H2AP H2A.P histone gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1353521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:22929960|PMID:27701760|PMID:28492532 12175546 H2AP H2A.P histone gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1353521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 12175546 H2AP H2A.P histone gene DOID:12849 autistic disorder ISO RGD:1353521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12175546 H2AP H2A.P histone gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12175546 H2AP H2A.P histone gene DOID:9007661 Dwarfism ISO RGD:1353521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12175546 H2AP H2A.P histone gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1353521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16786505|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 12175546 H2AP H2A.P histone gene DOID:9562 primary ciliary dyskinesia ISO RGD:1353521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12175551 KEL Kell metallo-endopeptidase gene DOID:630 genetic disease ISO RGD:1316929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175551 KEL Kell metallo-endopeptidase gene DOID:9003879 Vein of Galen Aneurysm ISO RGD:1316929 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galen vein aneurysm PMID:30578106 12175652 C18H7orf57 chromosome 18 C7orf57 homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1642900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12175652 C18H7orf57 chromosome 18 C7orf57 homolog gene DOID:630 genetic disease ISO RGD:1642900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175668 TEP1 telomerase associated protein 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:736009 D RGD:9068941 20220602 RGD DNA:SNPs:introns:rs1713423,rs1760893(human) PMID:27305982|REF_RGD_ID:152977750 12175668 TEP1 telomerase associated protein 1 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:736009 D RGD:9068941 20220602 RGD mRNA:increased expression:hepatocyte,biliary epithelium. PMID:10498642|REF_RGD_ID:152977753 12175668 TEP1 telomerase associated protein 1 gene DOID:630 genetic disease ISO RGD:736009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175668 TEP1 telomerase associated protein 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736009 D RGD:9068941 20220602 RGD associated with hepatitis B;DNA:SNPs: :rs1713449,rs1760898, rs872072 (human) PMID:23907815|REF_RGD_ID:152975963 12175668 TEP1 telomerase associated protein 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:736009 D RGD:9068941 20220602 RGD DNA:SNP:intron:rs1760893(human) PMID:27305982|REF_RGD_ID:152977750 12175668 TEP1 telomerase associated protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:736009 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11323394 12175726 COBLL1 cordon-bleu WH2 repeat protein like 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1319028 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 12175726 COBLL1 cordon-bleu WH2 repeat protein like 1 gene DOID:1826 epilepsy ISO RGD:1319028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 12175726 COBLL1 cordon-bleu WH2 repeat protein like 1 gene DOID:630 genetic disease ISO RGD:1319028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175726 COBLL1 cordon-bleu WH2 repeat protein like 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1319028 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34355838 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:734274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:0050547 familial medullary thyroid carcinoma ISO RGD:734274 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary PMID:10330344|PMID:10443680|PMID:10861667|PMID:11139246|PMID:11159935|PMID:11719521|PMID:20301726|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32807182 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:734274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy PMID:11668614 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:734274 D RGD:9068941 20200609 RGD PMID:17667845|REF_RGD_ID:5144120 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:0060180 colitis ISO RGD:620144 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:neuron PMID:20638179|REF_RGD_ID:5684542 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:0070146 hereditary sensory neuropathy type 4 ISO RGD:734274 D RGD:7240710 20180130 OMIM 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:0070146 hereditary sensory neuropathy type 4 ISO RGD:734274 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FAMILIAL DYSAUTONOMIA, TYPE II | ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: HSAN Type IV | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy 4 | ClinVar Annotator: match by term: Insensitivity to pain, congenital, with anhidrosis | ClinVar Annotator: match by term: Neuropathy, congenital sensory, with anhidrosis PMID:10090906|PMID:10233776|PMID:10330344|PMID:10443680|PMID:10861667|PMID:10982191|PMID:11071380|PMID:11139246|PMID:11159935|PMID:11310631|PMID:11668614|PMID:11719521|PMID:11748840|PMID:12210794|PMID:12406349|PMID:12949319|PMID:15534759|PMID:16199547|PMID:16373086|PMID:17576681|PMID:18056464|PMID:18162686|PMID:18179783|PMID:18322713|PMID:18955016|PMID:19250380|PMID:19598235|PMID:19618435|PMID:19651702|PMID:20003389|PMID:20301726|PMID:20647579|PMID:21708027|PMID:22032467|PMID:22302274|PMID:22397633|PMID:22653642|PMID:22957891|PMID:23112235|PMID:23241418|PMID:233776|PMID:23799134|PMID:24088041|PMID:24154508|PMID:24631696|PMID:25359976|PMID:25519000|PMID:25640679|PMID:25741868|PMID:26215504|PMID:26467025|PMID:26633545|PMID:26925801|PMID:27058611|PMID:27265460|PMID:27544236|PMID:27551041|PMID:27676246|PMID:27698470|PMID:27761255|PMID:28177573|PMID:28192073|PMID:28328124|PMID:28345382|PMID:28492532|PMID:28940190|PMID:28981924|PMID:29190530|PMID:29619836|PMID:29770739|PMID:30002500|PMID:30774415|PMID:31130284|PMID:32214227|PMID:32219930|PMID:32707409|PMID:32807182|PMID:32901917|PMID:33422294|PMID:33748046|PMID:3472625|PMID:77656|PMID:8696348|PMID:9536098 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:0080600 COVID-19 ISO RGD:734274 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:734274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:734274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:734274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:10487 Hirschsprung's disease ISO RGD:734274 D RGD:9068941 20200609 RGD protein:altered expression:intestine PMID:8943115|REF_RGD_ID:5684546 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:1059 intellectual disability ISO RGD:734274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:734274 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10330344|PMID:10982191|PMID:11139246|PMID:11159935|PMID:11310631|PMID:11668614|PMID:11719521|PMID:12210794|PMID:12949319|PMID:15534759|PMID:16199547|PMID:16373086|PMID:18077166|PMID:18322713|PMID:18657423|PMID:21708027|PMID:22032467|PMID:22302274|PMID:22957891|PMID:23112235|PMID:24154508|PMID:24631696|PMID:25741868|PMID:27058611|PMID:27551041|PMID:27698470|PMID:28492532|PMID:32707409|PMID:77656 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:734274 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10330344|PMID:10982191|PMID:11139246|PMID:11159935|PMID:11310631|PMID:11668614|PMID:11719521|PMID:12210794|PMID:12949319|PMID:15534759|PMID:16199547|PMID:16373086|PMID:18077166|PMID:18322713|PMID:18657423|PMID:21708027|PMID:22032467|PMID:22302274|PMID:22957891|PMID:23112235|PMID:24154508|PMID:24631696|PMID:25741868|PMID:27058611|PMID:27265460|PMID:27551041|PMID:27676246|PMID:27698470|PMID:28492532|PMID:28940190|PMID:28981924|PMID:29770739|PMID:32219930|PMID:32707409|PMID:3472625|PMID:77656 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:10652 Alzheimer's disease ISO RGD:734274 D RGD:9068941 20200609 RGD early onset sporadic AD; DNA:SNP:CDS:rs6336 PMID:18780967|REF_RGD_ID:5508228 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:734274 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:21397006|REF_RGD_ID:5684531 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:12217 Lewy body dementia ISO RGD:734274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:13406 pulmonary sarcoidosis ISO RGD:734274 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:16315781|REF_RGD_ID:4891110 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:734274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:1686 glaucoma ISO RGD:620144 D RGD:9068941 20200609 RGD PMID:20943663|REF_RGD_ID:5508695 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:1686 glaucoma ISO RGD:620144 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:eye PMID:18817846|REF_RGD_ID:5684379 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:1793 pancreatic cancer severity ISO RGD:734274 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:associated with increased tumor aggressiveness PMID:16704535|REF_RGD_ID:5508229 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:2394 ovarian cancer ISO RGD:734274 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:2468 psychotic disorder ISO RGD:734274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:2841 asthma ISO RGD:1624082 D RGD:9068941 20200609 RGD PMID:20934630|REF_RGD_ID:5684766 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:2841 asthma ISO RGD:620144 D RGD:9068941 20200609 RGD mRNA:increased expression:lung: PMID:16708804|REF_RGD_ID:5684772 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:289 endometriosis ISO RGD:1624082 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal ganglia, uterus PMID:21385399|REF_RGD_ID:5684532 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:3070 high grade glioma ISO RGD:734274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24705251 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:734274 D RGD:9068941 20200609 RGD protein:increased expression:bronchiolar epithelial cell PMID:21429417|REF_RGD_ID:5684530 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:3310 atopic dermatitis ISO RGD:1624082 D RGD:9068941 20200609 RGD PMID:17223862|REF_RGD_ID:5684771 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:3310 atopic dermatitis ISO RGD:734274 D RGD:9068941 20200609 RGD protein:increased expression:eosinophil PMID:18647313|REF_RGD_ID:5144116 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:3312 bipolar disorder ISO RGD:734274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:431 myofascial pain syndrome ISO RGD:620144 D RGD:9068941 20200609 RGD PMID:21719352|REF_RGD_ID:5684340 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:4483 rhinitis ISO RGD:734274 D RGD:9068941 20200609 RGD protein:increased expression:eosinophil PMID:18647313|REF_RGD_ID:5144116 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:5327 retinal detachment ISO RGD:620144 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18097183|REF_RGD_ID:5684405 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:5419 schizophrenia ISO RGD:734274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:5419 schizophrenia susceptibility ISO RGD:734274 D RGD:9068941 20200609 RGD DNA:SNPs:cds:rs6336, rs6339 PMID:21317683|REF_RGD_ID:5684534 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:734274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868|PMID:28492532 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:5812 MHC class II deficiency ISO RGD:734274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:630 genetic disease ISO RGD:734274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10330344|PMID:10982191|PMID:11159935|PMID:11668614|PMID:11719521|PMID:11748840|PMID:12676795|PMID:12949319|PMID:16373086|PMID:18173729|PMID:19618435|PMID:19651702|PMID:23112235|PMID:23799134|PMID:25519000|PMID:25741868|PMID:26215504|PMID:26467025|PMID:27265460|PMID:27551041|PMID:27676246|PMID:28192073|PMID:28345382|PMID:28492532|PMID:29619836|PMID:29770739|PMID:30774415|PMID:32219930|PMID:32707409|PMID:32807182|PMID:35426680|PMID:8384556 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:769 neuroblastoma ISO RGD:734274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16989911 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:769 neuroblastoma disease_progression ISO RGD:734274 D RGD:9068941 20200609 RGD PMID:8433391|REF_RGD_ID:5684545 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:824 periodontitis ISO RGD:620144 D RGD:9068941 20200609 RGD protein:increased expression:neuron PMID:20200421|REF_RGD_ID:5684768 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620144 D RGD:9068941 20200609 RGD mRNA:decreased expression:spinal cord PMID:18585435|REF_RGD_ID:2308892 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:9000310 Lung Injury ISO RGD:734274 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20075049 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:9002211 Hyperalgesia ISO RGD:620144 D RGD:9068941 20200609 RGD PMID:17667845|PMID:20351485|REF_RGD_ID:5144120|REF_RGD_ID:5684352 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:620144 D RGD:9068941 20200609 RGD mRNA:increased expression:brain subventricular zone: PMID:15589512|REF_RGD_ID:5684777 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620144 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:19633950|REF_RGD_ID:5684358 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620144 D RGD:9068941 20200609 RGD PMID:22044876|REF_RGD_ID:5684337 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620144 D RGD:9068941 20200609 RGD protein:increased tyrosine nitration, decreased tyrosine phosphorylation:retina PMID:21136036|REF_RGD_ID:5144144 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:9005968 Neuralgia ISO RGD:734274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18400411 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:9006101 Primary Ovarian Failure ISO RGD:734274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ovarian failure PMID:25741868|PMID:28492532 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:9008091 Optic Nerve Injuries ISO RGD:620144 D RGD:9068941 20200609 RGD PMID:20943663|REF_RGD_ID:5508695 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12175766 NTRK1 neurotrophic receptor tyrosine kinase 1 gene DOID:9743 diabetic neuropathy ISO RGD:620144 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:dorsal root ganglia PMID:12469361|REF_RGD_ID:5508379 12175787 ZDHHC14 zinc finger DHHC-type palmitoyltransferase 14 gene DOID:10348 blepharophimosis ISO RGD:1352800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:24674232 12175787 ZDHHC14 zinc finger DHHC-type palmitoyltransferase 14 gene DOID:630 genetic disease ISO RGD:1352800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175800 HRK harakiri, BCL2 interacting protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1620927 D RGD:9068941 20200609 RGD PMID:29440992|REF_RGD_ID:13506949 12175800 HRK harakiri, BCL2 interacting protein gene DOID:630 genetic disease ISO RGD:731025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175808 MIR152 microRNA mir-152 gene DOID:0080199 colorectal carcinoma ISO RGD:1349588 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:21327300|REF_RGD_ID:21066329 12175808 MIR152 microRNA mir-152 gene DOID:10283 prostate cancer disease_progression ISO RGD:1349588 D RGD:9068941 20200609 RGD miRNA:decreased expression:serum PMID:29723452|REF_RGD_ID:19165147 12175808 MIR152 microRNA mir-152 gene DOID:10534 stomach cancer ISO RGD:1349588 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes PMID:25261463|REF_RGD_ID:21066330 12175808 MIR152 microRNA mir-152 gene DOID:10534 stomach cancer ISO RGD:1349588 D RGD:9068941 20200609 RGD miRNA:decreased expression:stomach PMID:20422307|REF_RGD_ID:19165151 12175808 MIR152 microRNA mir-152 gene DOID:10534 stomach cancer disease_progression ISO RGD:1349588 D RGD:9068941 20200609 RGD miRNA:decreased expression:stomach PMID:28427226|REF_RGD_ID:19165143 12175808 MIR152 microRNA mir-152 gene DOID:10591 pre-eclampsia ISO RGD:1349588 D RGD:9068941 20230128 RGD miRNA:increased expression:blood serum (human) PMID:25017274|REF_RGD_ID:155882496 12175808 MIR152 microRNA mir-152 gene DOID:10591 pre-eclampsia ISO RGD:2325564 D RGD:9068941 20200609 RGD miRNA:increased expression:placenta PMID:31114978|REF_RGD_ID:21066344 12175808 MIR152 microRNA mir-152 gene DOID:11054 urinary bladder cancer severity ISO RGD:1349588 D RGD:9068941 20200609 RGD miRNA:decreased expression:urinary bladder PMID:30015946|REF_RGD_ID:19165141 12175808 MIR152 microRNA mir-152 gene DOID:11476 osteoporosis ISO RGD:2325564 D RGD:9068941 20200609 RGD miRNA:increased expression:femur PMID:31492082|REF_RGD_ID:21066345 12175808 MIR152 microRNA mir-152 gene DOID:1324 lung cancer ISO RGD:1349588 D RGD:9068941 20200609 RGD miRNA:increased expression:plasma PMID:26958084|REF_RGD_ID:21066332 12175808 MIR152 microRNA mir-152 gene DOID:1612 breast cancer ISO RGD:1349588 D RGD:9068941 20200609 RGD miRNA:increased expression:plasma PMID:26958084|REF_RGD_ID:21066332 12175808 MIR152 microRNA mir-152 gene DOID:2871 endometrial carcinoma ISO RGD:1349588 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:21327300|REF_RGD_ID:21066329 12175808 MIR152 microRNA mir-152 gene DOID:3021 acute kidney failure ISO RGD:1349588 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32583487 12175808 MIR152 microRNA mir-152 gene DOID:4362 cervical cancer ISO RGD:1349588 D RGD:9068941 20200609 RGD miRNA:decreased expression:uterine cervix PMID:30131089|REF_RGD_ID:19165142 12175808 MIR152 microRNA mir-152 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:1349588 D RGD:9068941 20200609 RGD miRNA:decreased expression:intrahepatic bile duct PMID:28921383|REF_RGD_ID:19165148 12175808 MIR152 microRNA mir-152 gene DOID:5082 liver cirrhosis ISO RGD:1349588 D RGD:9068941 20200609 RGD miRNA:decreased expression:serum PMID:31258681|REF_RGD_ID:19165153 12175808 MIR152 microRNA mir-152 gene DOID:684 hepatocellular carcinoma ISO RGD:1349588 D RGD:9068941 20200609 RGD PMID:26531720|REF_RGD_ID:21066331 12175808 MIR152 microRNA mir-152 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1349588 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver PMID:30967300|REF_RGD_ID:19165146 12175808 MIR152 microRNA mir-152 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1349588 D RGD:9068941 20200609 RGD associated with breast cancer PMID:22935141|REF_RGD_ID:19165152 12175808 MIR152 microRNA mir-152 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349588 D RGD:9068941 20200609 RGD associated with Castration-Resistant Prostatic Neoplasms PMID:23574937|REF_RGD_ID:19165145 12175808 MIR152 microRNA mir-152 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2325564 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver PMID:31258681|REF_RGD_ID:19165153 12175808 MIR152 microRNA mir-152 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1608321 D RGD:9068941 20200609 RGD PMID:26257392|REF_RGD_ID:19165150 12175808 MIR152 microRNA mir-152 gene DOID:9002457 Experimental Arthritis ISO RGD:1349588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194984 12175808 MIR152 microRNA mir-152 gene DOID:9002457 Experimental Arthritis ISO RGD:2325564 D RGD:9068941 20200609 RGD miRNA:decreased exression:synovial membrane of synovial joint PMID:25194984|REF_RGD_ID:21066343 12175808 MIR152 microRNA mir-152 gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:2325564 D RGD:9068941 20200609 RGD PMID:31982825|REF_RGD_ID:21066340 12175808 MIR152 microRNA mir-152 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12175808 MIR152 microRNA mir-152 gene DOID:9008939 Breast Neoplasms ISO RGD:1349588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28544374 12175808 MIR152 microRNA mir-152 gene DOID:9256 colorectal cancer ISO RGD:1349588 D RGD:9068941 20200609 RGD miRNA:decreased expression:colorectum PMID:20422307|REF_RGD_ID:19165151 12175808 MIR152 microRNA mir-152 gene DOID:9256 colorectal cancer ISO RGD:1349588 D RGD:9068941 20200609 RGD miRNA:increased expression:plasma PMID:26958084|REF_RGD_ID:21066332 12175808 MIR152 microRNA mir-152 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1349588 D RGD:9068941 20200609 RGD miRNA:decreased expression:colorectum PMID:26820128|REF_RGD_ID:11341114 12175808 MIR152 microRNA mir-152 gene DOID:9256 colorectal cancer treatment ISO RGD:1349588 D RGD:9068941 20200609 RGD PMID:26820128|REF_RGD_ID:11341114 12175808 MIR152 microRNA mir-152 gene DOID:9261 nasopharynx carcinoma ISO RGD:1349588 D RGD:9068941 20200609 RGD miRNA:decreased expression:nasopharynx PMID:28000885|REF_RGD_ID:19165149 12175846 LMAN2 lectin, mannose binding 2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12175846 LMAN2 lectin, mannose binding 2 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1319046 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12175846 LMAN2 lectin, mannose binding 2 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1319046 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 12175846 LMAN2 lectin, mannose binding 2 gene DOID:630 genetic disease ISO RGD:1319046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175846 LMAN2 lectin, mannose binding 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1319046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12175846 LMAN2 lectin, mannose binding 2 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1319046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 12175858 MRPL2 mitochondrial ribosomal protein L2 gene DOID:0050444 infantile Refsum disease ISO RGD:1316168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12175858 MRPL2 mitochondrial ribosomal protein L2 gene DOID:630 genetic disease ISO RGD:1316168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175858 MRPL2 mitochondrial ribosomal protein L2 gene DOID:905 Zellweger syndrome ISO RGD:1316168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12175869 DERL1 derlin 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1346784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 12175869 DERL1 derlin 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1346784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12175869 DERL1 derlin 1 gene DOID:630 genetic disease ISO RGD:1346784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175881 RASSF9 Ras association domain family member 9 gene DOID:630 genetic disease ISO RGD:731307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175887 MAK16 MAK16 homolog gene DOID:0081204 autosomal recessive intellectual developmental disorder 39 ISO RGD:1350635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome PMID:23956177 12175887 MAK16 MAK16 homolog gene DOID:10907 microcephaly ISO RGD:1350635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12175887 MAK16 MAK16 homolog gene DOID:630 genetic disease ISO RGD:1350635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175901 SERPINB5 serpin family B member 5 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:69089 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12175901 SERPINB5 serpin family B member 5 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:69089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 12175901 SERPINB5 serpin family B member 5 gene DOID:3008 invasive ductal carcinoma ISO RGD:69089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19944674 12175901 SERPINB5 serpin family B member 5 gene DOID:630 genetic disease ISO RGD:69089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175901 SERPINB5 serpin family B member 5 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:69089 D RGD:9068941 20200609 RGD associated with hepatitis B; PMID:26296971|REF_RGD_ID:11520929 12175901 SERPINB5 serpin family B member 5 gene DOID:9000058 Keloid ISO RGD:69089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12175901 SERPINB5 serpin family B member 5 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19514085 12175901 SERPINB5 serpin family B member 5 gene DOID:9002928 Colonic Neoplasms ISO RGD:69089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12175901 SERPINB5 serpin family B member 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:69089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16331619 12175901 SERPINB5 serpin family B member 5 gene DOID:9008939 Breast Neoplasms ISO RGD:69089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16799634 12175919 RUVBL2 RuvB like AAA ATPase 2 gene DOID:0111076 progressive familial heart block type IB ISO RGD:1315165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 12175919 RUVBL2 RuvB like AAA ATPase 2 gene DOID:630 genetic disease ISO RGD:1315165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175938 ATP2C1 ATPase secretory pathway Ca2+ transporting 1 gene DOID:0050429 Hailey-Hailey disease ISO RGD:733912 D RGD:7240710 20180130 OMIM 12175938 ATP2C1 ATPase secretory pathway Ca2+ transporting 1 gene DOID:0050429 Hailey-Hailey disease ISO RGD:733912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial benign pemphigus PMID:10615129|PMID:10767338|PMID:11874499|PMID:15545997|PMID:21883398|PMID:25741868|PMID:28492532|PMID:3978039 12175938 ATP2C1 ATPase secretory pathway Ca2+ transporting 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:733912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12175938 ATP2C1 ATPase secretory pathway Ca2+ transporting 1 gene DOID:630 genetic disease ISO RGD:733912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175938 ATP2C1 ATPase secretory pathway Ca2+ transporting 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:733912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868|PMID:28492532 12175938 ATP2C1 ATPase secretory pathway Ca2+ transporting 1 gene DOID:9270 alkaptonuria ISO RGD:733912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12175992 NRP1 neuropilin 1 gene DOID:1727 retinal vein occlusion ISO RGD:1552955 D RGD:9068941 20220825 MouseDO 12175992 NRP1 neuropilin 1 gene DOID:1793 pancreatic cancer ISO RGD:733081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15956974 12175992 NRP1 neuropilin 1 gene DOID:289 endometriosis ISO RGD:733081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12175992 NRP1 neuropilin 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:733081 D RGD:9068941 20210514 RGD DNA, protein:CNVs, increased expression:lung PMID:25561764|REF_RGD_ID:126925188 12175992 NRP1 neuropilin 1 gene DOID:409 liver disease ISO RGD:733081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12175992 NRP1 neuropilin 1 gene DOID:630 genetic disease ISO RGD:733081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12175992 NRP1 neuropilin 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:733081 D RGD:9068941 20210507 RGD protein:decreased expression:liver PMID:25333267|REF_RGD_ID:126848812 12175992 NRP1 neuropilin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12175992 NRP1 neuropilin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1552955 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:16816123|REF_RGD_ID:2313725 12176018 MYOZ1 myozenin 1 gene DOID:0060224 atrial fibrillation ISO RGD:1351397 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12176018 MYOZ1 myozenin 1 gene DOID:630 genetic disease ISO RGD:1351397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176031 SORT1 sortilin 1 gene DOID:0080600 COVID-19 ISO RGD:731682 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12176031 SORT1 sortilin 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:731682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12176031 SORT1 sortilin 1 gene DOID:12849 autistic disorder ISO RGD:731682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12176031 SORT1 sortilin 1 gene DOID:1287 cardiovascular system disease ISO RGD:731682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25805502 12176031 SORT1 sortilin 1 gene DOID:13580 cholestasis ISO RGD:731682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28453831 12176031 SORT1 sortilin 1 gene DOID:3393 coronary artery disease ISO RGD:731682 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:21378990|PMID:34961328 12176031 SORT1 sortilin 1 gene DOID:409 liver disease ISO RGD:731682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28453831 12176031 SORT1 sortilin 1 gene DOID:630 genetic disease ISO RGD:731682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176057 TLCD3A TLC domain containing 3A gene DOID:0111406 Fraser syndrome 3 ISO RGD:1605629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 12176057 TLCD3A TLC domain containing 3A gene DOID:630 genetic disease ISO RGD:1605629 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176069 MRRF mitochondrial ribosome recycling factor gene DOID:2661 myoepithelioma ISO RGD:1314201 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12176069 MRRF mitochondrial ribosome recycling factor gene DOID:630 genetic disease ISO RGD:1314201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176086 CHST11 carbohydrate sulfotransferase 11 gene DOID:0050581 brachydactyly ISO RGD:1318147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:29514872 12176086 CHST11 carbohydrate sulfotransferase 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1318147 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12176086 CHST11 carbohydrate sulfotransferase 11 gene DOID:2256 osteochondrodysplasia ISO RGD:1318147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondrodysplasia PMID:29514872 12176086 CHST11 carbohydrate sulfotransferase 11 gene DOID:630 genetic disease ISO RGD:1318147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176086 CHST11 carbohydrate sulfotransferase 11 gene DOID:9005586 Synpolydactyly 1 ISO RGD:1318147 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Synpolydactyly type 1 PMID:29514872 12176095 ST6GAL2 ST6 beta-galactoside alpha-2,6-sialyltransferase 2 gene DOID:5419 schizophrenia ISO RGD:1348221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12176095 ST6GAL2 ST6 beta-galactoside alpha-2,6-sialyltransferase 2 gene DOID:630 genetic disease ISO RGD:1348221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176106 MACC1 MET transcriptional regulator MACC1 gene DOID:0080600 COVID-19 ISO RGD:1602631 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12176106 MACC1 MET transcriptional regulator MACC1 gene DOID:4362 cervical cancer ISO RGD:1602631 D RGD:9068941 20220721 RGD mRNA:increased expression:cervical region (human) PMID:33603486|REF_RGD_ID:152999025 12176106 MACC1 MET transcriptional regulator MACC1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12176106 MACC1 MET transcriptional regulator MACC1 gene DOID:630 genetic disease ISO RGD:1602631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176106 MACC1 MET transcriptional regulator MACC1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1602631 D RGD:9068941 20220616 RGD associated with stomach cancer; human cells in mouse model PMID:27431311|REF_RGD_ID:152995400 12176118 NOBOX NOBOX oogenesis homeobox gene DOID:0080857 primary ovarian insufficiency 1 ISO RGD:1604996 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 1 PMID:21837770|PMID:24103315|PMID:25514101|PMID:25741868|PMID:25960166|PMID:26848058|PMID:28492532 12176118 NOBOX NOBOX oogenesis homeobox gene DOID:0080862 primary ovarian insufficiency 5 ISO RGD:1604996 D RGD:7240710 20180130 OMIM 12176118 NOBOX NOBOX oogenesis homeobox gene DOID:0080862 primary ovarian insufficiency 5 ISO RGD:1604996 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 5 PMID:17701902|PMID:18930203|PMID:21837770|PMID:24103315|PMID:25514101|PMID:25741868|PMID:25960166|PMID:26848058|PMID:28492532|PMID:31042289|PMID:33116287 12176118 NOBOX NOBOX oogenesis homeobox gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1604996 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:17701902 12176118 NOBOX NOBOX oogenesis homeobox gene DOID:5426 primary ovarian insufficiency ISO RGD:1604996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12176118 NOBOX NOBOX oogenesis homeobox gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1604996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:17701902 12176118 NOBOX NOBOX oogenesis homeobox gene DOID:630 genetic disease ISO RGD:1604996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12176118 NOBOX NOBOX oogenesis homeobox gene DOID:9003549 Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) ISO RGD:1604996 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) PMID:22152682|PMID:25458521|PMID:28492532 12176118 NOBOX NOBOX oogenesis homeobox gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 12176128 TRPT1 tRNA phosphotransferase 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1349455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12176128 TRPT1 tRNA phosphotransferase 1 gene DOID:1059 intellectual disability ISO RGD:1349455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12176128 TRPT1 tRNA phosphotransferase 1 gene DOID:3070 high grade glioma ISO RGD:1349455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12176128 TRPT1 tRNA phosphotransferase 1 gene DOID:630 genetic disease ISO RGD:1349455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176140 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0050563 nonsyndromic deafness ISO RGD:1603834 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:25589040|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29703829|PMID:30514912|PMID:33111345 12176140 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1603834 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12176140 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0110573 autosomal dominant nonsyndromic deafness 4A ISO RGD:1621965 D RGD:9068941 20220825 MouseDO OMIM:600652 12176140 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0110574 autosomal dominant nonsyndromic deafness 4B ISO RGD:1603834 D RGD:7240710 20180130 OMIM 12176140 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0110574 autosomal dominant nonsyndromic deafness 4B ISO RGD:1603834 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 4b PMID:21368133|PMID:24033266|PMID:25589040|PMID:25741868|PMID:28492532|PMID:30311386|PMID:35802133|PMID:36633841|PMID:7655461 12176140 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0111636 autosomal recessive nonsyndromic deafness 113 ISO RGD:1603834 D RGD:7240710 20190515 OMIM 12176140 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0111636 autosomal recessive nonsyndromic deafness 113 ISO RGD:1603834 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 113 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29703829|PMID:30311386|PMID:33111345 12176140 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:630 genetic disease ISO RGD:1603834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 12176140 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:9004538 Hearing Loss ISO RGD:1603834 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:25741868|PMID:30311386 12176148 SUCNR1 succinate receptor 1 gene DOID:630 genetic disease ISO RGD:1353653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176156 TNFRSF19 TNF receptor superfamily member 19 gene DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C ISO RGD:1344271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C PMID:18285821|PMID:28492532 12176156 TNFRSF19 TNF receptor superfamily member 19 gene DOID:1826 epilepsy ISO RGD:1344271 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12176156 TNFRSF19 TNF receptor superfamily member 19 gene DOID:1909 melanoma ISO RGD:1344271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17187358 12176156 TNFRSF19 TNF receptor superfamily member 19 gene DOID:5419 schizophrenia ISO RGD:1344271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12176156 TNFRSF19 TNF receptor superfamily member 19 gene DOID:607 paraplegia ISO RGD:1344271 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12176156 TNFRSF19 TNF receptor superfamily member 19 gene DOID:630 genetic disease ISO RGD:1344271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176156 TNFRSF19 TNF receptor superfamily member 19 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:1344271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20512145 12176173 MAP2 microtubule associated protein 2 gene DOID:10652 Alzheimer's disease ISO RGD:3044 D RGD:9068941 20200609 RGD PMID:22083255|REF_RGD_ID:6483322 12176173 MAP2 microtubule associated protein 2 gene DOID:11088 asphyxia neonatorum ISO RGD:3044 D RGD:9068941 20200609 RGD PMID:21858873|REF_RGD_ID:6483085 12176173 MAP2 microtubule associated protein 2 gene DOID:11294 arteriovenous malformation ISO RGD:3044 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:20873448|REF_RGD_ID:6483324 12176173 MAP2 microtubule associated protein 2 gene DOID:11446 sciatic neuropathy ISO RGD:3044 D RGD:9068941 20200609 RGD protein:decrease expression:dorsal root ganglion PMID:21933624|REF_RGD_ID:6483083 12176173 MAP2 microtubule associated protein 2 gene DOID:1206 Rett syndrome ISO RGD:733668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:25741868 12176173 MAP2 microtubule associated protein 2 gene DOID:12217 Lewy body dementia ISO RGD:733668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 12176173 MAP2 microtubule associated protein 2 gene DOID:12217 Lewy body dementia ISO RGD:733668 D RGD:9068941 20200609 RGD PMID:20024519|REF_RGD_ID:6483091 12176173 MAP2 microtubule associated protein 2 gene DOID:12858 Huntington's disease ISO RGD:733668 D RGD:9068941 20200609 RGD PMID:20092829|REF_RGD_ID:6483090 12176173 MAP2 microtubule associated protein 2 gene DOID:14330 Parkinson's disease ISO RGD:733668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 12176173 MAP2 microtubule associated protein 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:733668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12176173 MAP2 microtubule associated protein 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:733668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12176173 MAP2 microtubule associated protein 2 gene DOID:2316 brain ischemia ISO RGD:3044 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21948028|REF_RGD_ID:6483082 12176173 MAP2 microtubule associated protein 2 gene DOID:3328 temporal lobe epilepsy ISO RGD:3044 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:22265658|REF_RGD_ID:6483080 12176173 MAP2 microtubule associated protein 2 gene DOID:3526 cerebral infarction ISO RGD:3044 D RGD:9068941 20200609 RGD PMID:22444278|REF_RGD_ID:6483079 12176173 MAP2 microtubule associated protein 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733669 D RGD:9068941 20200609 RGD PMID:19966940|REF_RGD_ID:6483319 12176173 MAP2 microtubule associated protein 2 gene DOID:5419 schizophrenia ISO RGD:733668 D RGD:9068941 20200609 RGD PMID:20092829|REF_RGD_ID:6483090 12176173 MAP2 microtubule associated protein 2 gene DOID:630 genetic disease ISO RGD:733668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176173 MAP2 microtubule associated protein 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12176173 MAP2 microtubule associated protein 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3044 D RGD:9068941 20200609 RGD PMID:21704982|REF_RGD_ID:6483323 12176173 MAP2 microtubule associated protein 2 gene DOID:9000998 Brain Injuries ISO RGD:3044 D RGD:9068941 20200609 RGD PMID:20568963|REF_RGD_ID:6483089 12176173 MAP2 microtubule associated protein 2 gene DOID:9000998 Brain Injuries ISO RGD:3044 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex, neuron PMID:21401443|REF_RGD_ID:6483087 12176173 MAP2 microtubule associated protein 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:733668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12176173 MAP2 microtubule associated protein 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:3044 D RGD:9068941 20200609 RGD PMID:21300124|REF_RGD_ID:6483088 12176173 MAP2 microtubule associated protein 2 gene DOID:9004009 Reperfusion Injury ISO RGD:3044 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21948028|REF_RGD_ID:6483082 12176173 MAP2 microtubule associated protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12176173 MAP2 microtubule associated protein 2 gene DOID:9005930 Endotoxemia ISO RGD:733669 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:neuron PMID:21421895|REF_RGD_ID:6483086 12176227 SGPL1 sphingosine-1-phosphate lyase 1 gene DOID:0080265 nephrotic syndrome type 14 ISO RGD:1347742 D RGD:7240710 20190315 OMIM 12176227 SGPL1 sphingosine-1-phosphate lyase 1 gene DOID:0080265 nephrotic syndrome type 14 ISO RGD:1347742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 14 PMID:23232022|PMID:24777844|PMID:25741868|PMID:28165339|PMID:28165343|PMID:28181337|PMID:28492532|PMID:29127259|PMID:30517686|PMID:31130284|PMID:32233035|PMID:32860008|PMID:33074640 12176227 SGPL1 sphingosine-1-phosphate lyase 1 gene DOID:1184 nephrotic syndrome ISO RGD:1347742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:23232022|PMID:25741868|PMID:28165339|PMID:28165343|PMID:28492532|PMID:29127259|PMID:30517686|PMID:31130284|PMID:32233035|PMID:32860008|PMID:33074640 12176227 SGPL1 sphingosine-1-phosphate lyase 1 gene DOID:630 genetic disease ISO RGD:1347742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12176245 OLFM3 olfactomedin 3 gene DOID:1826 epilepsy ISO RGD:735294 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12176245 OLFM3 olfactomedin 3 gene DOID:540 strabismus ISO RGD:735294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Strabismus, susceptibility to 12176245 OLFM3 olfactomedin 3 gene DOID:630 genetic disease ISO RGD:735294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176258 TMEM199 transmembrane protein 199 gene DOID:0070268 congenital disorder of glycosylation type IIp ISO RGD:1348837 D RGD:7240710 20190315 OMIM 12176258 TMEM199 transmembrane protein 199 gene DOID:0070268 congenital disorder of glycosylation type IIp ISO RGD:1348837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TMEM199-CDG PMID:19067230|PMID:25741868|PMID:26833330|PMID:28492532|PMID:29321044 12176258 TMEM199 transmembrane protein 199 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1348837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorders of glycosylation type II PMID:25741868|PMID:26833330|PMID:28492532|PMID:29321044 12176258 TMEM199 transmembrane protein 199 gene DOID:630 genetic disease ISO RGD:1348837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12176268 PLCXD2 phosphatidylinositol specific phospholipase C X domain containing 2 gene DOID:630 genetic disease ISO RGD:1345610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176276 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1316312 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 12176276 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:0111988 immunodeficiency 12 ISO RGD:1316312 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 12176276 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:0112139 nuclear type mitochondrial complex I deficiency 35 ISO RGD:1316312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35 PMID:28040730 12176276 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1316312 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176276 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:32738225|PMID:32788587 12176276 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:9006331 Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities ISO RGD:1316312 D RGD:7240710 20210120 OMIM 12176276 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:9006331 Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities ISO RGD:1316312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities PMID:25741868|PMID:28492532|PMID:32738225|PMID:32788587 12176276 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:9008582 Developmental Disease ISO RGD:1316312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28492532|PMID:32738225 12176276 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:9008961 Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities ISO RGD:1316312 D RGD:7240710 20201202 OMIM 12176276 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:9008961 Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities ISO RGD:1316312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities PMID:25741868|PMID:28492532|PMID:32738225 12176315 CDKL3 cyclin dependent kinase like 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731372 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12176315 CDKL3 cyclin dependent kinase like 3 gene DOID:630 genetic disease ISO RGD:731372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176315 CDKL3 cyclin dependent kinase like 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12176315 CDKL3 cyclin dependent kinase like 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731372 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12176370 VSTM2L V-set and transmembrane domain containing 2 like gene DOID:2234 focal epilepsy ISO RGD:1313925 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12176370 VSTM2L V-set and transmembrane domain containing 2 like gene DOID:630 genetic disease ISO RGD:1313925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176378 TEAD1 TEA domain transcription factor 1 gene DOID:0111228 Sveinsson chorioretinal atrophy ISO RGD:1351522 D RGD:7240710 20180130 OMIM 12176378 TEAD1 TEA domain transcription factor 1 gene DOID:0111228 Sveinsson chorioretinal atrophy ISO RGD:1351522 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Helicoid peripapillary chorioretinal degeneration PMID:15016762|PMID:15359244|PMID:17689488|PMID:25741868|PMID:28492532|PMID:33864784 12176378 TEAD1 TEA domain transcription factor 1 gene DOID:1059 intellectual disability ISO RGD:1351522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12176378 TEAD1 TEA domain transcription factor 1 gene DOID:630 genetic disease ISO RGD:1351522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12176405 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1353525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:16582910|PMID:16909392|PMID:18261905|PMID:19012992|PMID:20074988|PMID:25741868|PMID:26467025|PMID:27536553|PMID:28209105|PMID:28492532|PMID:29282788|PMID:30273399|PMID:30298599|PMID:30833296|PMID:32703289 12176405 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:0080121 mitochondrial DNA depletion syndrome 3 ISO RGD:1619253 D RGD:9068941 20220825 MouseDO OMIM:251880 12176405 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:0080125 mitochondrial DNA depletion syndrome 6 ISO RGD:1353525 D RGD:7240710 20180130 OMIM 12176405 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:0080125 mitochondrial DNA depletion syndrome 6 ISO RGD:1353525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MPV17-related mitochondrial DNA maintenance defect | ClinVar Annotator: match by term: Navajo neurohepatopathy PMID:16199547|PMID:16582910|PMID:16909392|PMID:17694548|PMID:18261905|PMID:18695062|PMID:19012992|PMID:19520594|PMID:20074988|PMID:22508010|PMID:22964873|PMID:23714749|PMID:23829229|PMID:24190800|PMID:25016221|PMID:25129007|PMID:25741868|PMID:25861990|PMID:26437932|PMID:26467025|PMID:26741492|PMID:27536553|PMID:27848944|PMID:28207748|PMID:28209105|PMID:28492532|PMID:28673863|PMID:29282788|PMID:30273399|PMID:30298599|PMID:30833296|PMID:31319225|PMID:31673878|PMID:32703289|PMID:33258288 12176405 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:0110033 autosomal recessive Alport syndrome ISO RGD:1619253 D RGD:9068941 20220825 MouseDO OMIM:203780 12176405 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:0111559 Charcot-Marie-Tooth disease type 2EE ISO RGD:1353525 D RGD:7240710 20190515 OMIM 12176405 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:0111559 Charcot-Marie-Tooth disease type 2EE ISO RGD:1353525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE PMID:20074988|PMID:22508010|PMID:23714749|PMID:24190800|PMID:25129007|PMID:25741868|PMID:25861990|PMID:26437932|PMID:26741492|PMID:27536553|PMID:28492532|PMID:28673863|PMID:29282788|PMID:30298599|PMID:31673878 12176405 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1353525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12176405 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:10123 pigmentation disease ISO RGD:1353525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18818194 12176405 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:1184 nephrotic syndrome ISO RGD:1619253 D RGD:9068941 20220825 MouseDO OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861 12176405 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1353525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18818194 12176405 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:5463 cochlear disease ISO RGD:1353525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18818194 12176405 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:576 proteinuria ISO RGD:1353525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18818194 12176405 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:630 genetic disease ISO RGD:1353525 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12176405 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:700 mitochondrial metabolism disease ISO RGD:1353525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18818194 12176405 MPV17 mitochondrial inner membrane protein MPV17 gene DOID:9000761 Deoxyguanosine Kinase Deficiency ISO RGD:1353525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome, hepatocerebral form PMID:16582910|PMID:16909392|PMID:17694548|PMID:19520594|PMID:23714749|PMID:23829229|PMID:25016221|PMID:25741868|PMID:26437932|PMID:27536553|PMID:28492532|PMID:28673863|PMID:29282788|PMID:30298599|PMID:31673878 12176425 CALB1 calbindin 1 gene DOID:2741 bilirubin metabolic disorder ISO RGD:69340 D RGD:9068941 20200609 RGD PMID:12204357|REF_RGD_ID:633843 12176425 CALB1 calbindin 1 gene DOID:557 kidney disease ISO RGD:732083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258088|PMID:21865292 12176425 CALB1 calbindin 1 gene DOID:630 genetic disease ISO RGD:732083 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176440 ACOXL acyl-CoA oxidase like gene DOID:630 genetic disease ISO RGD:1315641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176440 ACOXL acyl-CoA oxidase like gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1315641 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770605 12176471 DAZAP1 DAZ associated protein 1 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1313216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 12176471 DAZAP1 DAZ associated protein 1 gene DOID:5339 cyclic hematopoiesis ISO RGD:1313216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12176471 DAZAP1 DAZ associated protein 1 gene DOID:630 genetic disease ISO RGD:1313216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176471 DAZAP1 DAZ associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12176471 DAZAP1 DAZ associated protein 1 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:1313216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 12176500 HOATZ HOATZ cilia and flagella associated protein gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1602158 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 12176500 HOATZ HOATZ cilia and flagella associated protein gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1602158 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 12176500 HOATZ HOATZ cilia and flagella associated protein gene DOID:1059 intellectual disability ISO RGD:1602158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12176500 HOATZ HOATZ cilia and flagella associated protein gene DOID:12704 ataxia telangiectasia ISO RGD:1602158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12176500 HOATZ HOATZ cilia and flagella associated protein gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1602158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12176500 HOATZ HOATZ cilia and flagella associated protein gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1602158 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 12176525 ZBTB47 zinc finger and BTB domain containing 47 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1343623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 12176525 ZBTB47 zinc finger and BTB domain containing 47 gene DOID:1826 epilepsy ISO RGD:1343623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12176525 ZBTB47 zinc finger and BTB domain containing 47 gene DOID:630 genetic disease ISO RGD:1343623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176541 SFPQ splicing factor proline and glutamine rich gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1343285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12176541 SFPQ splicing factor proline and glutamine rich gene DOID:37 skin disease ISO RGD:1343285 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12176541 SFPQ splicing factor proline and glutamine rich gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1343285 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12176541 SFPQ splicing factor proline and glutamine rich gene DOID:630 genetic disease ISO RGD:1343285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176541 SFPQ splicing factor proline and glutamine rich gene DOID:9007964 Arsenic Poisoning ISO RGD:1343285 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12176558 LOC100856339 phosphatidylinositol 3-kinase regulatory subunit gamma gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12176558 LOC100856339 phosphatidylinositol 3-kinase regulatory subunit gamma gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1353925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12176558 LOC100856339 phosphatidylinositol 3-kinase regulatory subunit gamma gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12176558 LOC100856339 phosphatidylinositol 3-kinase regulatory subunit gamma gene DOID:234 colon adenocarcinoma treatment ISO RGD:1353925 D RGD:9068941 20200609 RGD PMID:24632606|REF_RGD_ID:13432053 12176558 LOC100856339 phosphatidylinositol 3-kinase regulatory subunit gamma gene DOID:3070 high grade glioma treatment ISO RGD:1353925 D RGD:9068941 20200609 RGD PMID:28260020|REF_RGD_ID:13782053 12176558 LOC100856339 phosphatidylinositol 3-kinase regulatory subunit gamma gene DOID:630 genetic disease ISO RGD:1353925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176558 LOC100856339 phosphatidylinositol 3-kinase regulatory subunit gamma gene DOID:684 hepatocellular carcinoma treatment ISO RGD:621042 D RGD:9068941 20220520 RGD PMID:25999787|REF_RGD_ID:152177911 12176558 LOC100856339 phosphatidylinositol 3-kinase regulatory subunit gamma gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353925 D RGD:9068941 20200609 RGD associated with Adenocarcinoma, Colon PMID:24837077|REF_RGD_ID:13432045 12176558 LOC100856339 phosphatidylinositol 3-kinase regulatory subunit gamma gene DOID:9008443 Colorectal Neoplasms ISO RGD:1353925 D RGD:9068941 20200609 RGD PMID:21978709|REF_RGD_ID:13432046 12176558 LOC100856339 phosphatidylinositol 3-kinase regulatory subunit gamma gene DOID:9008952 Breast Cancer, Familial ISO RGD:1353925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 12176579 LRRC23 leucine rich repeat containing 23 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1604054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12176579 LRRC23 leucine rich repeat containing 23 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1604054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12176579 LRRC23 leucine rich repeat containing 23 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1604054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12176579 LRRC23 leucine rich repeat containing 23 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1604054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12176579 LRRC23 leucine rich repeat containing 23 gene DOID:0111621 Temtamy syndrome ISO RGD:1604054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12176579 LRRC23 leucine rich repeat containing 23 gene DOID:630 genetic disease ISO RGD:1604054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176579 LRRC23 leucine rich repeat containing 23 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1604054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12176599 MIR138A microRNA mir-138a gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1354224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 12176602 MIR142 microRNA mir-142 gene DOID:12365 malaria treatment ISO RGD:1615487 D RGD:9068941 20200710 RGD PMID:28123381|REF_RGD_ID:35673288 12176602 MIR142 microRNA mir-142 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1342882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29844410 12176602 MIR142 microRNA mir-142 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12176602 MIR142 microRNA mir-142 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1342882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12176602 MIR142 microRNA mir-142 gene DOID:9256 colorectal cancer ISO RGD:1342882 D RGD:9068941 20220721 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12176602 MIR142 microRNA mir-142 gene DOID:9351 diabetes mellitus ISO RGD:1342882 D RGD:9068941 20230413 RGD RNA:increased expression:blood: PMID:32544883|REF_RGD_ID:243065126 12176602 MIR142 microRNA mir-142 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1342882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478399 12176605 MIR184 microRNA mir-184 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1351164 D RGD:9068941 20220624 RGD RNA:decreased expression:blood plasma (human) PMID:31874165|REF_RGD_ID:152995482 12176605 MIR184 microRNA mir-184 gene DOID:2717 Bloom syndrome ISO RGD:1351164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12176605 MIR184 microRNA mir-184 gene DOID:4448 macular degeneration ISO RGD:1351164 D RGD:9068941 20221103 CTD CTD Direct Evidence: therapeutic PMID:35690295 12176605 MIR184 microRNA mir-184 gene DOID:83 cataract ISO RGD:1351164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 12176605 MIR184 microRNA mir-184 gene DOID:9002905 EDICT Syndrome ISO RGD:1351164 D RGD:7240710 20181003 OMIM 12176605 MIR184 microRNA mir-184 gene DOID:9002905 EDICT Syndrome ISO RGD:1351164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EDICT syndrome PMID:11874753|PMID:14638698|PMID:21996275|PMID:22131394 12176605 MIR184 microRNA mir-184 gene DOID:9256 colorectal cancer ISO RGD:1351164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12176605 MIR184 microRNA mir-184 gene DOID:9970 obesity ISO RGD:1351164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23954404 12176633 LOC102155262 neuroblastoma breakpoint family member 11-like gene DOID:0081294 neuronal intranuclear inclusion disease ISO RGD:13627350 D RGD:7240710 20191030 OMIM 12176633 LOC102155262 neuroblastoma breakpoint family member 11-like gene DOID:0081295 essential tremor 6 ISO RGD:13627350 D RGD:7240710 20200520 OMIM 12176633 LOC102155262 neuroblastoma breakpoint family member 11-like gene DOID:0081299 oculopharyngodistal myopathy 3 ISO RGD:13627350 D RGD:7240710 20210825 OMIM 12176692 MAOB monoamine oxidase B gene DOID:0050771 pheochromocytoma ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22569243 12176692 MAOB monoamine oxidase B gene DOID:0060693 Brunner syndrome ISO RGD:732580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brunner syndrome PMID:17296899|PMID:20340138|PMID:22382802|PMID:28492532|PMID:30452590|PMID:8211186 12176692 MAOB monoamine oxidase B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12176692 MAOB monoamine oxidase B gene DOID:10652 Alzheimer's disease ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21075085|PMID:7816197 12176692 MAOB monoamine oxidase B gene DOID:10652 Alzheimer's disease ISO RGD:732580 D RGD:9068941 20200609 RGD PMID:1627256|REF_RGD_ID:10046060 12176692 MAOB monoamine oxidase B gene DOID:12849 autistic disorder ISO RGD:732580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12176692 MAOB monoamine oxidase B gene DOID:12858 Huntington's disease ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21075085 12176692 MAOB monoamine oxidase B gene DOID:13382 megaloblastic anemia ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7430361 12176692 MAOB monoamine oxidase B gene DOID:13413 hepatic encephalopathy ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10564534 12176692 MAOB monoamine oxidase B gene DOID:13580 cholestasis ISO RGD:3041 D RGD:9068941 20200609 RGD protein:altered activity:hypothalamus (rat) PMID:18802767|REF_RGD_ID:2307352 12176692 MAOB monoamine oxidase B gene DOID:14330 Parkinson's disease ISO RGD:3041 D RGD:9068941 20200609 RGD protein:increased activity:striatum (rat) PMID:17417741|REF_RGD_ID:2316771 12176692 MAOB monoamine oxidase B gene DOID:14330 Parkinson's disease ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21318773 12176692 MAOB monoamine oxidase B gene DOID:14330 Parkinson's disease ISO RGD:732580 D RGD:9068941 20200609 RGD PMID:9129714|REF_RGD_ID:1358484 12176692 MAOB monoamine oxidase B gene DOID:289 endometriosis ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12176692 MAOB monoamine oxidase B gene DOID:5419 schizophrenia ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20479760 12176692 MAOB monoamine oxidase B gene DOID:630 genetic disease ISO RGD:732580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176692 MAOB monoamine oxidase B gene DOID:9002928 Colonic Neoplasms ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12176692 MAOB monoamine oxidase B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12176692 MAOB monoamine oxidase B gene DOID:9005832 Amyloid Plaques ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7816197 12176692 MAOB monoamine oxidase B gene DOID:9006024 Hypotension ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11834493 12176692 MAOB monoamine oxidase B gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:732580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:25972376|PMID:28492532 12176711 CLU clusterin gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:68978 D RGD:9068941 20200609 RGD mRNA:decreased expression:conjunctiva PMID:12036968|REF_RGD_ID:8699507 12176711 CLU clusterin gene DOID:0050855 renal fibrosis ISO RGD:3907 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:22052058|REF_RGD_ID:9068421 12176711 CLU clusterin gene DOID:0050855 renal fibrosis ISO RGD:68979 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:22052058|REF_RGD_ID:9068421 12176711 CLU clusterin gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12176711 CLU clusterin gene DOID:0060449 gelatinous drop-like corneal dystrophy ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:10502582|REF_RGD_ID:8699502 12176711 CLU clusterin gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:68978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12176711 CLU clusterin gene DOID:0080000 muscular disease ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:15912881|REF_RGD_ID:1626306 12176711 CLU clusterin gene DOID:0080162 lupus nephritis ISO RGD:68979 D RGD:9068941 20200609 RGD mRNA:increased expression: epithelial cell of renal tubule PMID:9546356|REF_RGD_ID:8890679 12176711 CLU clusterin gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:68978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12176711 CLU clusterin gene DOID:10591 pre-eclampsia ISO RGD:68978 D RGD:9068941 20200609 RGD DNA:SNP:exon:866C>T (human) PMID:15925890|REF_RGD_ID:1581195 12176711 CLU clusterin gene DOID:10652 Alzheimer's disease ISO RGD:68978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:28492532|PMID:29476165 12176711 CLU clusterin gene DOID:10763 hypertension ISO RGD:68978 D RGD:9068941 20200609 RGD DNA:SNP:exon:866C>T (human) PMID:15925890|REF_RGD_ID:1581195 12176711 CLU clusterin gene DOID:11132 prostatic hypertrophy ISO RGD:3907 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:19443575|REF_RGD_ID:9068410 12176711 CLU clusterin gene DOID:11555 Fuchs' endothelial dystrophy ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:18378577|REF_RGD_ID:8696020 12176711 CLU clusterin gene DOID:11555 Fuchs' endothelial dystrophy ISO RGD:68979 D RGD:9068941 20200609 RGD PMID:22956607|REF_RGD_ID:8661808 12176711 CLU clusterin gene DOID:11656 cicatricial pemphigoid ISO RGD:68978 D RGD:9068941 20200609 RGD mRNA:decreased expression:conjunctiva PMID:12036968|REF_RGD_ID:8699507 12176711 CLU clusterin gene DOID:12306 vitiligo ISO RGD:68979 D RGD:9068941 20200609 RGD PMID:7558712|REF_RGD_ID:8699503 12176711 CLU clusterin gene DOID:13378 Kawasaki disease treatment ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:23956692|REF_RGD_ID:8975365 12176711 CLU clusterin gene DOID:13641 exfoliation syndrome ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:16639006|REF_RGD_ID:8699516 12176711 CLU clusterin gene DOID:13641 exfoliation syndrome ISO RGD:68978 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs2279590 (human) PMID:19182256|PMID:25057782|REF_RGD_ID:8887372|REF_RGD_ID:9068391 12176711 CLU clusterin gene DOID:13641 exfoliation syndrome ISO RGD:68978 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :multiple PMID:18806885|REF_RGD_ID:8699505 12176711 CLU clusterin gene DOID:13641 exfoliation syndrome no_association ISO RGD:68978 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs2279590 (human) PMID:19182256|REF_RGD_ID:8887372 12176711 CLU clusterin gene DOID:1612 breast cancer disease_progression ISO RGD:68978 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.27611345C>G (rs9331888) (human) PMID:22037783|REF_RGD_ID:8963167 12176711 CLU clusterin gene DOID:1749 squamous cell carcinoma severity ISO RGD:68979 D RGD:9068941 20200609 RGD PMID:15126350|REF_RGD_ID:8936706 12176711 CLU clusterin gene DOID:1909 melanoma ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15955107 12176711 CLU clusterin gene DOID:1936 atherosclerosis treatment ISO RGD:3907 D RGD:9068941 20200609 RGD PMID:15961700|REF_RGD_ID:9068390 12176711 CLU clusterin gene DOID:1936 atherosclerosis treatment ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:15961700|REF_RGD_ID:9068390 12176711 CLU clusterin gene DOID:2316 brain ischemia ISO RGD:3907 D RGD:9068941 20200609 RGD PMID:12782389|REF_RGD_ID:727237 12176711 CLU clusterin gene DOID:2351 iron metabolism disease ISO RGD:68979 D RGD:9068941 20200609 RGD PMID:18723004|REF_RGD_ID:2301196 12176711 CLU clusterin gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:3907 D RGD:9068941 20200609 RGD PMID:24118288|REF_RGD_ID:9068419 12176711 CLU clusterin gene DOID:3008 invasive ductal carcinoma ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:10934144|REF_RGD_ID:8699513 12176711 CLU clusterin gene DOID:3021 acute kidney failure ISO RGD:3907 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:22581811|REF_RGD_ID:7245501 12176711 CLU clusterin gene DOID:3021 acute kidney failure ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20118187|PMID:20623750|PMID:22005293|PMID:23052191|PMID:24361871|PMID:28885000 12176711 CLU clusterin gene DOID:3178 skin papilloma ISO RGD:68979 D RGD:9068941 20200609 RGD PMID:11085517|REF_RGD_ID:8746700 12176711 CLU clusterin gene DOID:3393 coronary artery disease ISO RGD:68978 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome;protein:decreased expression:plasma PMID:20711835|REF_RGD_ID:9068393 12176711 CLU clusterin gene DOID:3429 inclusion body myositis ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:15912881|REF_RGD_ID:1626306 12176711 CLU clusterin gene DOID:418 systemic scleroderma ISO RGD:68978 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22350181|REF_RGD_ID:8898558 12176711 CLU clusterin gene DOID:4251 conjunctival disease ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:15584350|REF_RGD_ID:9017974 12176711 CLU clusterin gene DOID:4449 macular retinal edema ISO RGD:68978 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:decreased expression:vitreous humor PMID:23568601|REF_RGD_ID:9068396 12176711 CLU clusterin gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:3907 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:23791361|REF_RGD_ID:9068422 12176711 CLU clusterin gene DOID:4930 nasal cavity adenocarcinoma ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:19903339|REF_RGD_ID:9014708 12176711 CLU clusterin gene DOID:557 kidney disease ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258088|PMID:21593213|PMID:24863737 12176711 CLU clusterin gene DOID:576 proteinuria treatment ISO RGD:3907 D RGD:9068941 20200609 RGD PMID:18274700|REF_RGD_ID:9068435 12176711 CLU clusterin gene DOID:5844 myocardial infarction treatment ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:20854280|REF_RGD_ID:9068409 12176711 CLU clusterin gene DOID:6432 pulmonary hypertension ISO RGD:3907 D RGD:9068941 20200609 RGD PMID:25069740|REF_RGD_ID:9068424 12176711 CLU clusterin gene DOID:676 juvenile rheumatoid arthritis ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12176711 CLU clusterin gene DOID:784 chronic kidney disease ISO RGD:3907 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased expression:urine PMID:24325231|REF_RGD_ID:9068427 12176711 CLU clusterin gene DOID:8398 osteoarthritis ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789|PMID:18784066 12176711 CLU clusterin gene DOID:8466 retinal degeneration treatment ISO RGD:3907 D RGD:9068941 20200609 RGD PMID:18085470|REF_RGD_ID:9068394 12176711 CLU clusterin gene DOID:8691 mycosis fungoides disease_progression ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:23702390|REF_RGD_ID:8923490 12176711 CLU clusterin gene DOID:8893 psoriasis ISO RGD:68978 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:23522962|REF_RGD_ID:9068388 12176711 CLU clusterin gene DOID:8947 diabetic retinopathy treatment ISO RGD:68978 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19875648|REF_RGD_ID:9068395 12176711 CLU clusterin gene DOID:9000081 Lymphatic Metastasis ISO RGD:68978 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:snp:promoter:g.27611345C>G (rs9331888) (human) PMID:22037783|REF_RGD_ID:8963167 12176711 CLU clusterin gene DOID:9000965 Neoplasm Metastasis ISO RGD:68978 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:20307318|REF_RGD_ID:8883512 12176711 CLU clusterin gene DOID:9001725 Retina Reperfusion Injury ISO RGD:3907 D RGD:9068941 20200609 RGD PMID:15139011|REF_RGD_ID:1581194 12176711 CLU clusterin gene DOID:9002055 Chronic Allograft Nephropathy treatment ISO RGD:3907 D RGD:9068941 20200609 RGD PMID:22494435|REF_RGD_ID:9068431 12176711 CLU clusterin gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:3907 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18949565|REF_RGD_ID:9068414 12176711 CLU clusterin gene DOID:9002221 Hyperplasia ISO RGD:68978 D RGD:9068941 20200609 RGD associated with Breast Diseases PMID:10934144|REF_RGD_ID:8699513 12176711 CLU clusterin gene DOID:9002234 Pituitary Neoplasms treatment ISO RGD:68979 D RGD:9068941 20200609 RGD PMID:23051594|REF_RGD_ID:8699506 12176711 CLU clusterin gene DOID:9002304 Prostatic Neoplasms ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17148459 12176711 CLU clusterin gene DOID:9002514 Neointima ISO RGD:68979 D RGD:9068941 20200609 RGD PMID:19696405|PMID:20032585|REF_RGD_ID:8699512|REF_RGD_ID:9068412 12176711 CLU clusterin gene DOID:9002775 Cognitive Dysfunction ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30503753 12176711 CLU clusterin gene DOID:9003204 Neovascularization, Pathologic ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16308731 12176711 CLU clusterin gene DOID:9004462 Atrophy ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21536718 12176711 CLU clusterin gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:23099883|REF_RGD_ID:8699504 12176711 CLU clusterin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3907 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic islet PMID:23351716|REF_RGD_ID:9068411 12176711 CLU clusterin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3907 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:12763621|REF_RGD_ID:9068392 12176711 CLU clusterin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24361871|PMID:28885000 12176711 CLU clusterin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 12176711 CLU clusterin gene DOID:9008091 Optic Nerve Injuries ISO RGD:3907 D RGD:9068941 20200609 RGD PMID:14577867|REF_RGD_ID:5129542 12176711 CLU clusterin gene DOID:9008939 Breast Neoplasms severity ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:17203891|REF_RGD_ID:8729187 12176711 CLU clusterin gene DOID:9008939 Breast Neoplasms treatment ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:22613415|REF_RGD_ID:8764690 12176711 CLU clusterin gene DOID:9074 systemic lupus erythematosus ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15304052 12176711 CLU clusterin gene DOID:9074 systemic lupus erythematosus ISO RGD:68978 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:10090169|REF_RGD_ID:8696021 12176724 XPO6 exportin 6 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1322976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 12176724 XPO6 exportin 6 gene DOID:303 substance-related disorder ISO RGD:1322976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12176724 XPO6 exportin 6 gene DOID:630 genetic disease ISO RGD:1322976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176755 NMT1 N-myristoyltransferase 1 gene DOID:630 genetic disease ISO RGD:1352076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176776 TSR2 TSR2 ribosome maturation factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12176776 TSR2 TSR2 ribosome maturation factor gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1602842 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 12176776 TSR2 TSR2 ribosome maturation factor gene DOID:0111824 Aarskog syndrome ISO RGD:1602842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aarskog syndrome PMID:25741868|PMID:28492532 12176776 TSR2 TSR2 ribosome maturation factor gene DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ISO RGD:1602842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis PMID:11424144|PMID:24942156 12176776 TSR2 TSR2 ribosome maturation factor gene DOID:0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis ISO RGD:1602842 D RGD:7240710 20180130 OMIM 12176776 TSR2 TSR2 ribosome maturation factor gene DOID:0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis ISO RGD:1602842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis PMID:11424144|PMID:24942156|PMID:25741868|PMID:28492532 12176776 TSR2 TSR2 ribosome maturation factor gene DOID:12849 autistic disorder ISO RGD:1602842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12176776 TSR2 TSR2 ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1602842 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 12176785 CDX2 caudal type homeobox 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:730914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29439001 12176785 CDX2 caudal type homeobox 2 gene DOID:0080700 caudal regression syndrome ISO RGD:730914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sirenomelia PMID:25741868 12176785 CDX2 caudal type homeobox 2 gene DOID:630 genetic disease ISO RGD:730914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176785 CDX2 caudal type homeobox 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:730914 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35674868 12176785 CDX2 caudal type homeobox 2 gene DOID:9000545 Ectromelia ISO RGD:730914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sirenomelia PMID:25741868 12176785 CDX2 caudal type homeobox 2 gene DOID:9001441 Adenomatous Polyps ISO RGD:730915 D RGD:9068941 20200609 RGD PMID:9052785|REF_RGD_ID:734757 12176785 CDX2 caudal type homeobox 2 gene DOID:9001471 Anorectal Malformations ISO RGD:730914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anorectal malformation PMID:25741868 12176785 CDX2 caudal type homeobox 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:730914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29439001 12176785 CDX2 caudal type homeobox 2 gene DOID:9206 Barrett's esophagus disease_progression ISO RGD:730914 D RGD:9068941 20200609 RGD PMID:23011828|REF_RGD_ID:7349348 12176790 GALNT8 polypeptide N-acetylgalactosaminyltransferase 8 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1350587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 12176790 GALNT8 polypeptide N-acetylgalactosaminyltransferase 8 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1350587 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12176790 GALNT8 polypeptide N-acetylgalactosaminyltransferase 8 gene DOID:630 genetic disease ISO RGD:1350587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176790 GALNT8 polypeptide N-acetylgalactosaminyltransferase 8 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1350587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12176807 SHISA4 shisa family member 4 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1323817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12176807 SHISA4 shisa family member 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1323817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12176807 SHISA4 shisa family member 4 gene DOID:630 genetic disease ISO RGD:1323817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176807 SHISA4 shisa family member 4 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1323817 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12176807 SHISA4 shisa family member 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12176814 KL klotho gene DOID:0050459 hyperphosphatemia ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17710231 12176814 KL klotho gene DOID:0111063 hyperphosphatemic familial tumoral calcinosis ISO RGD:732783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome 12176814 KL klotho gene DOID:10003 sensorineural hearing loss ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:21167925|REF_RGD_ID:10403058 12176814 KL klotho gene DOID:10584 retinitis pigmentosa ISO RGD:620396 D RGD:9068941 20200609 RGD protein:increased expression:retina,photoreceptor,nucleus: PMID:23796581|REF_RGD_ID:10403060 12176814 KL klotho gene DOID:10584 retinitis pigmentosa ISO RGD:732784 D RGD:9068941 20200609 RGD protein:increased expression:retina,photoreceptor,nucleus: PMID:23796581|REF_RGD_ID:10403060 12176814 KL klotho gene DOID:10652 Alzheimer's disease treatment ISO RGD:732784 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:cerebral choroid,serum: PMID:23973442|REF_RGD_ID:10403049 12176814 KL klotho gene DOID:1074 kidney failure ISO RGD:620396 D RGD:9068941 20200609 RGD PMID:10892340|REF_RGD_ID:1581732 12176814 KL klotho gene DOID:10763 hypertension ISO RGD:620396 D RGD:9068941 20200609 RGD PMID:10892340|REF_RGD_ID:1581732 12176814 KL klotho gene DOID:10763 hypertension treatment ISO RGD:620396 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:kidney: PMID:21051829|REF_RGD_ID:10403063 12176814 KL klotho gene DOID:10763 hypertension treatment ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:23225045|REF_RGD_ID:10403062 12176814 KL klotho gene DOID:11476 osteoporosis ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9363890 12176814 KL klotho gene DOID:11476 osteoporosis ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:9363890|REF_RGD_ID:10403047 12176814 KL klotho gene DOID:1168 familial hyperlipidemia ISO RGD:620396 D RGD:9068941 20200609 RGD PMID:10892340|REF_RGD_ID:1581732 12176814 KL klotho gene DOID:12466 secondary hyperparathyroidism ISO RGD:620396 D RGD:9068941 20200609 RGD associated with Uremia;mRNA,protein:increased expression:parathyroid gland: PMID:20631679|REF_RGD_ID:10403078 12176814 KL klotho gene DOID:12678 hypercalcemia ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17710231 12176814 KL klotho gene DOID:13938 amenorrhea ISO RGD:732783 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:25741868|PMID:32870266 12176814 KL klotho gene DOID:182 calcinosis ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17710231 12176814 KL klotho gene DOID:1936 atherosclerosis ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:11027545|REF_RGD_ID:10403056 12176814 KL klotho gene DOID:2247 spondylosis susceptibility ISO RGD:732783 D RGD:9068941 20200609 RGD PMID:12110410|REF_RGD_ID:10403053 12176814 KL klotho gene DOID:2277 gonadal disease ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:9363890|REF_RGD_ID:10403047 12176814 KL klotho gene DOID:2349 arteriosclerosis ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9363890 12176814 KL klotho gene DOID:2349 arteriosclerosis ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:9363890|REF_RGD_ID:10403047 12176814 KL klotho gene DOID:3393 coronary artery disease ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12669274 12176814 KL klotho gene DOID:3393 coronary artery disease ISO RGD:732783 D RGD:9068941 20200609 RGD PMID:16979405|REF_RGD_ID:1581721 12176814 KL klotho gene DOID:3393 coronary artery disease ISO RGD:732783 D RGD:9068941 20200806 RGD DNA:SNP:promoter: -G395>A (human) PMID:16579981|REF_RGD_ID:1581723 12176814 KL klotho gene DOID:37 skin disease ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9363890 12176814 KL klotho gene DOID:4372 intracranial embolism susceptibility ISO RGD:732783 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-395G>A(human) PMID:16973281|REF_RGD_ID:10403059 12176814 KL klotho gene DOID:5223 infertility ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9363890 12176814 KL klotho gene DOID:557 kidney disease ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23665422 12176814 KL klotho gene DOID:630 genetic disease ISO RGD:732783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32870266 12176814 KL klotho gene DOID:783 end stage renal disease ISO RGD:620396 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney: PMID:9731228|REF_RGD_ID:10403067 12176814 KL klotho gene DOID:783 end stage renal disease ISO RGD:732783 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:kidney: PMID:11162628|REF_RGD_ID:10403042 12176814 KL klotho gene DOID:784 chronic kidney disease ISO RGD:620396 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:renal tubule, epithelial cell: PMID:11967236|REF_RGD_ID:70544 12176814 KL klotho gene DOID:784 chronic kidney disease disease_progression ISO RGD:732783 D RGD:9068941 20200609 RGD protein:decreased expression:urine: PMID:21115613|REF_RGD_ID:10403077 12176814 KL klotho gene DOID:784 chronic kidney disease treatment ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:11967236|REF_RGD_ID:70544 12176814 KL klotho gene DOID:8927 learning disability ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25309793 12176814 KL klotho gene DOID:9000099 Experimental Colitis ISO RGD:732784 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney: PMID:20004202|REF_RGD_ID:10403055 12176814 KL klotho gene DOID:9001035 Hypercalciuria, Childhood Idiopathic ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20394945 12176814 KL klotho gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:620396 D RGD:9068941 20200609 RGD protein:decreased expression:kidney: PMID:24136780|REF_RGD_ID:10403079 12176814 KL klotho gene DOID:9002331 Knee Osteoarthritis susceptibility ISO RGD:732783 D RGD:9068941 20200609 RGD DNA:SNPs:promoter,exon:395G>A,2998C>T(human) PMID:18465812|REF_RGD_ID:10403041 12176814 KL klotho gene DOID:9002644 Premature Aging ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25550330|PMID:9363890 12176814 KL klotho gene DOID:9002644 Premature Aging ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:9363890|REF_RGD_ID:10403047 12176814 KL klotho gene DOID:9002884 Emphysema ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9363890 12176814 KL klotho gene DOID:9002884 Emphysema ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:9363890|REF_RGD_ID:10403047 12176814 KL klotho gene DOID:9003846 Sinoatrial Block ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:15037532|REF_RGD_ID:1581730 12176814 KL klotho gene DOID:9003936 Cardiomegaly treatment ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:23225045|REF_RGD_ID:10403062 12176814 KL klotho gene DOID:9005366 Hyperphosphatemic Familial Tumoral Calcinosis 3 ISO RGD:732783 D RGD:7240710 20190315 OMIM 12176814 KL klotho gene DOID:9005366 Hyperphosphatemic Familial Tumoral Calcinosis 3 ISO RGD:732783 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 3 PMID:17710231|PMID:25741868|PMID:28492532|PMID:29389098|PMID:32870266 12176814 KL klotho gene DOID:9006205 Animal Disease Models ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25550330 12176814 KL klotho gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:620396 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:renal tubule: PMID:16204278|REF_RGD_ID:10403064 12176814 KL klotho gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:16204278|REF_RGD_ID:10403064 12176814 KL klotho gene DOID:9006332 Vascular Calcification ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:21115613|REF_RGD_ID:10403077 12176814 KL klotho gene DOID:9006646 Metabolic Syndrome ISO RGD:620396 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney: PMID:11027545|REF_RGD_ID:10403056 12176814 KL klotho gene DOID:9006646 Metabolic Syndrome ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:11027545|REF_RGD_ID:10403056 12176814 KL klotho gene DOID:9007094 Hypercalcemia, Infantile, 1 ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20394945 12176814 KL klotho gene DOID:9007096 Stroke ISO RGD:732783 D RGD:9068941 20200609 RGD PMID:15677572|REF_RGD_ID:1581727 12176814 KL klotho gene DOID:9007367 Septic Peritonitis disease_progression ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:23364432|REF_RGD_ID:10403048 12176814 KL klotho gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:732783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:17710231|PMID:25741868|PMID:29389098 12176814 KL klotho gene DOID:9008023 Memory Disorders ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25309793|PMID:25550330 12176814 KL klotho gene DOID:9352 type 2 diabetes mellitus ISO RGD:620396 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney: PMID:23967103|REF_RGD_ID:10044235 12176814 KL klotho gene DOID:9352 type 2 diabetes mellitus ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 12176814 KL klotho gene DOID:9675 pulmonary emphysema ISO RGD:732784 D RGD:9068941 20220825 MouseDO OMIM:130700 12176814 Kl klotho gene DOID:784 chronic kidney disease ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:21115613|REF_RGD_ID:10403077 12176824 ZNRF1 zinc and ring finger 1 gene DOID:2565 macular corneal dystrophy ISO RGD:1349961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 12176824 ZNRF1 zinc and ring finger 1 gene DOID:607 paraplegia ISO RGD:1349961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12176824 ZNRF1 zinc and ring finger 1 gene DOID:630 genetic disease ISO RGD:1349961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176824 ZNRF1 zinc and ring finger 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12176833 SCGB2A2 secretoglobin family 2A member 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1345224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12176833 SCGB2A2 secretoglobin family 2A member 2 gene DOID:1059 intellectual disability ISO RGD:1345224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12176833 SCGB2A2 secretoglobin family 2A member 2 gene DOID:630 genetic disease ISO RGD:1345224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176859 BHLHE41 basic helix-loop-helix family member e41 gene DOID:0050866 oral squamous cell carcinoma treatment ISO RGD:731061 D RGD:9068941 20220317 RGD Human cells in mouse model PMID:27602964|REF_RGD_ID:151665310 12176859 BHLHE41 basic helix-loop-helix family member e41 gene DOID:3910 lung adenocarcinoma ISO RGD:731061 D RGD:9068941 20220317 RGD mRNA:decreased expression:lung (human) PMID:18223678|REF_RGD_ID:151665316 12176859 BHLHE41 basic helix-loop-helix family member e41 gene DOID:5041 esophageal cancer ISO RGD:731061 D RGD:9068941 20220317 RGD protein:increased expression:esophagus(human) PMID:29890466|REF_RGD_ID:151665308 12176859 BHLHE41 basic helix-loop-helix family member e41 gene DOID:535 sleep disorder ISO RGD:731061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12176859 BHLHE41 basic helix-loop-helix family member e41 gene DOID:630 genetic disease ISO RGD:731061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176859 BHLHE41 basic helix-loop-helix family member e41 gene DOID:9005172 Lung Neoplasms ISO RGD:731061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12176859 BHLHE41 basic helix-loop-helix family member e41 gene DOID:9007173 Familial Natural Short Sleep 1 ISO RGD:731061 D RGD:7240710 20191225 OMIM 12176859 BHLHE41 basic helix-loop-helix family member e41 gene DOID:9007173 Familial Natural Short Sleep 1 ISO RGD:731061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short sleep, familial natural, 1 PMID:19679812|PMID:25083013 12176878 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:0050650 familial atrial fibrillation ISO RGD:731065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation 12176878 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:0050823 third-degree atrioventricular block ISO RGD:731065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Third degree atrioventricular block PMID:28492532 12176878 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:0050989 episodic ataxia type 1 ISO RGD:731065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:21858020|PMID:28492532 12176878 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:0060224 atrial fibrillation ISO RGD:731065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19698954 12176878 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:731065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12176878 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 1 PMID:15735608|PMID:16411137|PMID:21306642|PMID:23264583|PMID:23861362|PMID:24068186|PMID:28492532 12176878 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:10534 stomach cancer ISO RGD:731065 D RGD:9068941 20200609 RGD protein:increased expression:gastric mucosa (human) PMID:16258262|REF_RGD_ID:9686069 12176878 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:10763 hypertension ISO RGD:2953 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:11358947|REF_RGD_ID:1627659 12176878 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:114 heart disease ISO RGD:731065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heart disease PMID:22402074|PMID:23264583|PMID:25410959|PMID:25741868|PMID:28492532 12176878 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:630 genetic disease ISO RGD:731065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12176878 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:6432 pulmonary hypertension ISO RGD:2953 D RGD:9068941 20200609 RGD PMID:20303989|REF_RGD_ID:7242752 12176878 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:6432 pulmonary hypertension ISO RGD:731065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27522126 12176878 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:6432 pulmonary hypertension ISO RGD:731065 D RGD:9068941 20200609 RGD PMID:17596340|REF_RGD_ID:1627651 12176878 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:6432 pulmonary hypertension ISO RGD:731065 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, cds PMID:17267549|REF_RGD_ID:1627654 12176878 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868 12176878 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:9001275 Familial Atrial Fibrillation 7 ISO RGD:731065 D RGD:7240710 20180130 OMIM 12176878 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:9001275 Familial Atrial Fibrillation 7 ISO RGD:731065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 7 | ClinVar Annotator: match by term: altered potassium channel function PMID:15735608|PMID:16025157|PMID:16411137|PMID:16772329|PMID:17266934|PMID:17872968|PMID:18209767|PMID:19029374|PMID:19343045|PMID:19443837|PMID:20018952|PMID:20646426|PMID:21306642|PMID:21685056|PMID:22402074|PMID:23264583|PMID:23861362|PMID:24033266|PMID:24068186|PMID:24144883|PMID:24936649|PMID:24950668|PMID:25076992|PMID:25410959|PMID:25741868|PMID:26129877|PMID:26220970|PMID:26383259|PMID:28492532|PMID:28803858|PMID:29034891|PMID:29247119|PMID:29743074|PMID:31727138|PMID:33789662|PMID:34088380|PMID:34570182 12176878 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:731065 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:23861362|PMID:25741868|PMID:28492532 12176878 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:2953 D RGD:9068941 20200609 RGD PMID:15306225|REF_RGD_ID:7242784 12176878 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:9002554 Tachycardia ISO RGD:2953 D RGD:9068941 20200609 RGD PMID:15876811|REF_RGD_ID:7242768 12176878 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2953 D RGD:9068941 20200609 RGD PMID:17982915|REF_RGD_ID:7242761 12176878 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:731065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12176878 KCNA5 potassium voltage-gated channel subfamily A member 5 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:731065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:20018952|PMID:21685056|PMID:23861362|PMID:24068186|PMID:25076992|PMID:28492532 12176881 ZNF189 zinc finger protein 189 gene DOID:1059 intellectual disability ISO RGD:1315167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12176881 ZNF189 zinc finger protein 189 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:1315167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 12176881 ZNF189 zinc finger protein 189 gene DOID:630 genetic disease ISO RGD:1315167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176881 ZNF189 zinc finger protein 189 gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:1315167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532 12176888 UBE2J1 ubiquitin conjugating enzyme E2 J1 gene DOID:0080600 COVID-19 ISO RGD:1312877 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12176888 UBE2J1 ubiquitin conjugating enzyme E2 J1 gene DOID:630 genetic disease ISO RGD:1312877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176900 DUS1L dihydrouridine synthase 1 like gene DOID:630 genetic disease ISO RGD:1605962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176900 DUS1L dihydrouridine synthase 1 like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12176940 HSPBP1 HSPA (Hsp70) binding protein 1 gene DOID:630 genetic disease ISO RGD:734029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176968 LZTFL1 leucine zipper transcription factor like 1 gene DOID:0080600 COVID-19 ISO RGD:1315352 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:32558485|PMID:32998156 12176968 LZTFL1 leucine zipper transcription factor like 1 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1315352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:23692385 12176968 LZTFL1 leucine zipper transcription factor like 1 gene DOID:0110139 Bardet-Biedl syndrome 17 ISO RGD:1315352 D RGD:7240710 20180130 OMIM 12176968 LZTFL1 leucine zipper transcription factor like 1 gene DOID:0110139 Bardet-Biedl syndrome 17 ISO RGD:1315352 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 17 PMID:22510444|PMID:23692385|PMID:25741868|PMID:28492532 12176968 LZTFL1 leucine zipper transcription factor like 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1315352 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 12176968 LZTFL1 leucine zipper transcription factor like 1 gene DOID:11162 respiratory failure ISO RGD:1315352 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32558485 12176968 LZTFL1 leucine zipper transcription factor like 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1315352 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 12176968 LZTFL1 leucine zipper transcription factor like 1 gene DOID:630 genetic disease ISO RGD:1315352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12176968 LZTFL1 leucine zipper transcription factor like 1 gene DOID:9001827 Critical Illness ISO RGD:1315352 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32558485|PMID:32998156 12176968 LZTFL1 leucine zipper transcription factor like 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1315352 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12176982 RAD52 RAD52 homolog, DNA repair protein gene DOID:0050742 nicotine dependence susceptibility ISO RGD:1312725 D RGD:9068941 20220303 RGD DNA:SNP:3'utr: (rs7963551) (human) PMID:26629180|REF_RGD_ID:151660337 12176982 RAD52 RAD52 homolog, DNA repair protein gene DOID:0050904 salivary gland carcinoma sexual_dimorphism ISO RGD:1312725 D RGD:9068941 20220303 RGD DNA:SNP:intron: (rs3748522) (human) PMID:26035306|REF_RGD_ID:151361290 12176982 RAD52 RAD52 homolog, DNA repair protein gene DOID:10155 intestinal cancer disease_progression ISO RGD:10166 D RGD:9068941 20220225 RGD PMID:27984746|REF_RGD_ID:151361160 12176982 RAD52 RAD52 homolog, DNA repair protein gene DOID:1324 lung cancer susceptibility ISO RGD:1312725 D RGD:9068941 20220304 RGD DNA:SNP,haplotype: PMID:18449888|REF_RGD_ID:151660351 12176982 RAD52 RAD52 homolog, DNA repair protein gene DOID:1324 lung cancer susceptibility ISO RGD:1312725 D RGD:9068941 20220310 RGD DNA:SNP: (rs4766394) (human) PMID:22382497|REF_RGD_ID:151660503 12176982 RAD52 RAD52 homolog, DNA repair protein gene DOID:1749 squamous cell carcinoma ISO RGD:1312725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26013599 12176982 RAD52 RAD52 homolog, DNA repair protein gene DOID:219 colon cancer susceptibility ISO RGD:1312725 D RGD:9068941 20220303 RGD DNA:SNPs:3'utr: (rs1051669, rs11571475) (human) PMID:26735576|REF_RGD_ID:151361212 12176982 RAD52 RAD52 homolog, DNA repair protein gene DOID:3907 lung squamous cell carcinoma ameliorates ISO RGD:1312726 D RGD:9068941 20220303 RGD PMID:28415565|REF_RGD_ID:151660334 12176982 RAD52 RAD52 homolog, DNA repair protein gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1312725 D RGD:9068941 20220303 RGD DNA:SNP: (rs6489769) (human) PMID:22585858|REF_RGD_ID:151660345 12176982 RAD52 RAD52 homolog, DNA repair protein gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1312725 D RGD:9068941 20220310 RGD DNA:SNPs,haplotype:multiple PMID:32401173|REF_RGD_ID:151660355 12176982 RAD52 RAD52 homolog, DNA repair protein gene DOID:3948 adrenocortical carcinoma ISO RGD:1312725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 12176982 RAD52 RAD52 homolog, DNA repair protein gene DOID:4531 mucoepidermoid carcinoma susceptibility ISO RGD:1312725 D RGD:9068941 20220303 RGD DNA:SNP:intron: (rs3748522) (human) PMID:26035306|REF_RGD_ID:151361290 12176982 RAD52 RAD52 homolog, DNA repair protein gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:1312725 D RGD:9068941 20220303 RGD DNA:SNP:3'utr: (rs7963551) (human) PMID:26629180|REF_RGD_ID:151660337 12176982 RAD52 RAD52 homolog, DNA repair protein gene DOID:5409 lung small cell carcinoma treatment ISO RGD:1312725 D RGD:9068941 20220303 RGD DNA:SNP: (rs10774474)(human) PMID:27531263|REF_RGD_ID:151660339 12176982 RAD52 RAD52 homolog, DNA repair protein gene DOID:630 genetic disease ISO RGD:1312725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12176982 RAD52 RAD52 homolog, DNA repair protein gene DOID:684 hepatocellular carcinoma onset ISO RGD:1312725 D RGD:9068941 20220303 RGD mRNA,protein:increased expression:liver (human) PMID:31719794|REF_RGD_ID:151361207 12176982 RAD52 RAD52 homolog, DNA repair protein gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1312725 D RGD:9068941 20220303 RGD associated with hepatitis B;DNA:SNP:3'utr: (rs7963551) (human) PMID:24729511|REF_RGD_ID:151361199 12176982 RAD52 RAD52 homolog, DNA repair protein gene DOID:9000965 Neoplasm Metastasis susceptibility ISO RGD:1312725 D RGD:9068941 20220225 RGD associated with colorectal cancer; DNA:SNP:3'utr: (rs7963551) (human) PMID:29245274|REF_RGD_ID:151361161 12176982 RAD52 RAD52 homolog, DNA repair protein gene DOID:9005172 Lung Neoplasms ISO RGD:1312725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26013599 12176982 RAD52 RAD52 homolog, DNA repair protein gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1312725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12176982 RAD52 RAD52 homolog, DNA repair protein gene DOID:9256 colorectal cancer onset ISO RGD:1312725 D RGD:9068941 20220225 RGD DNA:SNP,haplotypes:3'utr: (rs1051669) (human) PMID:29245274|REF_RGD_ID:151361161 12176982 RAD52 RAD52 homolog, DNA repair protein gene DOID:9256 colorectal cancer susceptibility ISO RGD:1312725 D RGD:9068941 20220303 RGD DNA:SNPs:3'utr: (rs7963551, rs11226) (human) PMID:26735576|REF_RGD_ID:151361212 12176982 RAD52 RAD52 homolog, DNA repair protein gene DOID:9261 nasopharynx carcinoma severity ISO RGD:1312725 D RGD:9068941 20220303 RGD protein:increased expression:nasopharynx (human) PMID:25026830|REF_RGD_ID:151361208 12177020 RPS20 ribosomal protein S20 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:736603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:25741868|PMID:32790018 12177020 RPS20 ribosomal protein S20 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736603 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:24941021|PMID:28492532 12177028 AKTIP AKT interacting protein gene DOID:630 genetic disease ISO RGD:1322487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177028 AKTIP AKT interacting protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12177055 PPP3CB protein phosphatase 3 catalytic subunit beta gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:733965 D RGD:9068941 20200609 RGD PMID:26436650|REF_RGD_ID:13515117 12177055 PPP3CB protein phosphatase 3 catalytic subunit beta gene DOID:1712 aortic valve stenosis ISO RGD:733965 D RGD:9068941 20200609 RGD PMID:15533858|REF_RGD_ID:1580704 12177055 PPP3CB protein phosphatase 3 catalytic subunit beta gene DOID:5419 schizophrenia ISO RGD:3383 D RGD:9068941 20200609 RGD PMID:29214423|REF_RGD_ID:13515120 12177055 PPP3CB protein phosphatase 3 catalytic subunit beta gene DOID:5419 schizophrenia ISO RGD:733965 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:15820226|REF_RGD_ID:13515121 12177055 PPP3CB protein phosphatase 3 catalytic subunit beta gene DOID:630 genetic disease ISO RGD:733965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177055 PPP3CB protein phosphatase 3 catalytic subunit beta gene DOID:893 Wilson disease ISO RGD:733965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 12177055 PPP3CB protein phosphatase 3 catalytic subunit beta gene DOID:9004009 Reperfusion Injury ISO RGD:11135 D RGD:9068941 20200609 RGD PMID:14615291|REF_RGD_ID:1580705 12177055 PPP3CB protein phosphatase 3 catalytic subunit beta gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:11135 D RGD:9068941 20200609 RGD PMID:9568714|REF_RGD_ID:1579956 12177055 PPP3CB protein phosphatase 3 catalytic subunit beta gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:733965 D RGD:9068941 20200609 RGD PMID:16688406|REF_RGD_ID:1580706 12177055 PPP3CB protein phosphatase 3 catalytic subunit beta gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:11135 D RGD:9068941 20200609 RGD PMID:9568714|REF_RGD_ID:1579956 12177055 PPP3CB protein phosphatase 3 catalytic subunit beta gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3383 D RGD:9068941 20200609 RGD PMID:16496058|REF_RGD_ID:1580703 12177087 CDH11 cadherin 11 gene DOID:0080631 Elsahy-Waters syndrome ISO RGD:1351773 D RGD:7240710 20190315 OMIM 12177087 CDH11 cadherin 11 gene DOID:0080631 Elsahy-Waters syndrome ISO RGD:1351773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Elsahy-Waters syndrome PMID:25741868|PMID:27431290|PMID:29271567 12177087 CDH11 cadherin 11 gene DOID:0081074 Teebi hypertelorism syndrome 2 ISO RGD:1351773 D RGD:7240710 20220413 OMIM 12177087 CDH11 cadherin 11 gene DOID:0081074 Teebi hypertelorism syndrome 2 ISO RGD:1351773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Teebi hypertelorism syndrome 2 PMID:33811546 12177087 CDH11 cadherin 11 gene DOID:13501 Moebius syndrome ISO RGD:1351773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 12177087 CDH11 cadherin 11 gene DOID:630 genetic disease ISO RGD:1351773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12177087 CDH11 cadherin 11 gene DOID:936 brain disease ISO RGD:1351773 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4 PMID:25741868 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:0050127 sinusitis ISO RGD:735517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18391768 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:0050866 oral squamous cell carcinoma ISO RGD:735517 D RGD:9068941 20220908 RGD protein:increased expression:saliva PMID:29199150|REF_RGD_ID:153350131 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:0050866 oral squamous cell carcinoma ISO RGD:735517 D RGD:9068941 20220915 RGD protein:decreased expression:saliva PMID:33564003|REF_RGD_ID:153350144 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:2187 D RGD:9068941 20220915 RGD PMID:27982256|REF_RGD_ID:153352323 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:2187 D RGD:9068941 20220915 RGD associated with type 2 diabetes mellitus; PMID:29608898|REF_RGD_ID:153352320 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:10283 prostate cancer ISO RGD:735517 D RGD:9068941 20220915 RGD protein:increased expression:serum PMID:11309332|REF_RGD_ID:153350158 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:10286 prostate carcinoma exacerbates ISO RGD:735517 D RGD:9068941 20220915 RGD PMID:11309332|REF_RGD_ID:153350158 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:11612 polycystic ovary syndrome ISO RGD:735517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:1826 epilepsy ISO RGD:2187 D RGD:9068941 20220915 RGD protein:decreased expression:hippocampal neuron PMID:28576733|REF_RGD_ID:153350152 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:219 colon cancer severity ISO RGD:735517 D RGD:9068941 20220909 RGD protein:increased expression:colon,serum PMID:25561225|REF_RGD_ID:153350136 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:299 adenocarcinoma ISO RGD:735517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18978557 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:3021 acute kidney failure disease_progression ISO RGD:735517 D RGD:9068941 20220915 RGD PMID:23849457|REF_RGD_ID:153350150 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:3328 temporal lobe epilepsy ISO RGD:735517 D RGD:9068941 20220915 RGD protein:decreased expression:brain neuron PMID:28576733|REF_RGD_ID:153350152 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:735517 D RGD:9068941 20220909 RGD PMID:28053542|REF_RGD_ID:153350138 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:3910 lung adenocarcinoma ISO RGD:735517 D RGD:9068941 20220909 RGD mRNA,protein:increased expression:lung PMID:17724461|REF_RGD_ID:153350134 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:5082 liver cirrhosis ISO RGD:2187 D RGD:9068941 20220908 RGD mRNA:decreased expression:liver PMID:26902423|REF_RGD_ID:153350133 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:5082 liver cirrhosis ISO RGD:735517 D RGD:9068941 20220908 RGD associated with hepatitis B;mRNA:decreased expression:liver PMID:26902423|REF_RGD_ID:153350133 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:5082 liver cirrhosis ISO RGD:735517 D RGD:9068941 20220908 RGD associated with hepatocellular carcinoma;protein:decreased expression:liver: PMID:22625427|REF_RGD_ID:153350130 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:5517 stomach carcinoma disease_progression ISO RGD:735517 D RGD:9068941 20220915 RGD PMID:23935945|REF_RGD_ID:153350143 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:630 genetic disease ISO RGD:735517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:684 hepatocellular carcinoma ISO RGD:2187 D RGD:9068941 20220908 RGD mRNA:decreased expression:liver PMID:26902423|REF_RGD_ID:153350133 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:684 hepatocellular carcinoma ISO RGD:735517 D RGD:9068941 20220908 RGD associated with hepatitis B;mRNA:decreased expression:liver PMID:26902423|REF_RGD_ID:153350133 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735517 D RGD:9068941 20220908 RGD PMID:22625427|PMID:27993894|REF_RGD_ID:153350130|REF_RGD_ID:153350132 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:7148 rheumatoid arthritis ISO RGD:2187 D RGD:9068941 20220915 RGD mRNA:decreased expression:liver PMID:18372237|REF_RGD_ID:153352318 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:784 chronic kidney disease ISO RGD:10223 D RGD:9068941 20220915 RGD protein:increased expression:white adipose tissue: PMID:23423258|REF_RGD_ID:153352319 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:784 chronic kidney disease ISO RGD:2187 D RGD:9068941 20220915 RGD protein:increased expression:white adipose tissue: PMID:23423258|REF_RGD_ID:153352319 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:784 chronic kidney disease ISO RGD:735517 D RGD:9068941 20220915 RGD protein:increased expression:plasma,white adipose tissue: PMID:23423258|REF_RGD_ID:153352319 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9002304 Prostatic Neoplasms ISO RGD:735517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17173048 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9003139 Cardiac Fibrosis exacerbates ISO RGD:10223 D RGD:9068941 20220915 RGD PMID:25788525|REF_RGD_ID:153350149 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9004303 Tubulointerstitial Fibrosis exacerbates ISO RGD:10223 D RGD:9068941 20220915 RGD associated with ureteral obstruction; PMID:25788525|REF_RGD_ID:153350149 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9004303 Tubulointerstitial Fibrosis treatment ISO RGD:10223 D RGD:9068941 20220915 RGD associated with ureteral obstruction; PMID:25788525|REF_RGD_ID:153350149 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9004968 Yin Deficiency treatment ISO RGD:2187 D RGD:9068941 20220915 RGD PMID:29729385|REF_RGD_ID:153350148 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9005172 Lung Neoplasms ISO RGD:735517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18978557 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9007346 Cachexia ISO RGD:735517 D RGD:9068941 20220915 RGD associated with gastrointestinal system cancer;mRNA,protein:increased expression:subcutaneous adipose tissue: PMID:21245862|REF_RGD_ID:153350145 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9009121 lung metastasis ameliorates ISO RGD:735517 D RGD:9068941 20220908 RGD associated with hepatocellular carcinoma; PMID:26902423|PMID:27993894|REF_RGD_ID:153350132|REF_RGD_ID:153350133 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9256 colorectal cancer ISO RGD:735517 D RGD:9068941 20220908 RGD mRNA,protein:decreased expression:colorectum: PMID:32525817|REF_RGD_ID:153350127 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9256 colorectal cancer ISO RGD:735517 D RGD:9068941 20220915 RGD protein:increased expression:serum PMID:29755407|REF_RGD_ID:153350147 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9256 colorectal cancer disease_progression ISO RGD:735517 D RGD:9068941 20220909 RGD PMID:23393224|REF_RGD_ID:153350137 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9970 obesity ISO RGD:10223 D RGD:9068941 20220915 RGD mRNA, protein:decreased expression:fat pad, liver,plasma PMID:19934249|REF_RGD_ID:153350157 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9970 obesity ISO RGD:2187 D RGD:9068941 20220915 RGD mRNA:decreased expression:fat pad PMID:19934249|REF_RGD_ID:153350157 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9970 obesity ISO RGD:2187 D RGD:9068941 20220915 RGD protein:decreased expression:plasma PMID:21136593|REF_RGD_ID:153350156 12177110 AZGP1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9970 obesity ISO RGD:735517 D RGD:9068941 20220915 RGD associated with colorectal cancer; protein:decreased expression:subcutaneous white adipose tissue PMID:29755407|REF_RGD_ID:153350147 12177118 ADCY10 adenylate cyclase 10 gene DOID:0111942 immunodeficiency 25 ISO RGD:737484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 12177118 ADCY10 adenylate cyclase 10 gene DOID:12336 male infertility ISO RGD:737484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 12177118 ADCY10 adenylate cyclase 10 gene DOID:1540 parathyroid carcinoma ISO RGD:737484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12177118 ADCY10 adenylate cyclase 10 gene DOID:630 genetic disease ISO RGD:737484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12177118 ADCY10 adenylate cyclase 10 gene DOID:9003936 Cardiomegaly ameliorates ISO RGD:737485 D RGD:9068941 20230429 RGD PMID:29466442|REF_RGD_ID:329337358 12177118 ADCY10 adenylate cyclase 10 gene DOID:9005047 Hypercalciuria, Absorptive, 2 ISO RGD:737484 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial idiopathic hypercalciuria PMID:11932268|PMID:17576681|PMID:25741868|PMID:26787776|PMID:28492532|PMID:9536098 12177118 ADCY10 adenylate cyclase 10 gene DOID:9005047 Hypercalciuria, Absorptive, 2 susceptibility ISO RGD:737484 D RGD:7240710 20190502 OMIM 12177118 ADCY10 adenylate cyclase 10 gene DOID:9008091 Optic Nerve Injuries ISO RGD:708450 D RGD:9068941 20230504 RGD protein:decreased expression:retina PMID:22649251|REF_RGD_ID:329347828 12177118 ADCY10 adenylate cyclase 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12177163 RIC8B RIC8 guanine nucleotide exchange factor B gene DOID:630 genetic disease ISO RGD:1605657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177191 ATP6V1E2 ATPase H+ transporting V1 subunit E2 gene DOID:3883 Lynch syndrome ISO RGD:1323263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12177191 ATP6V1E2 ATPase H+ transporting V1 subunit E2 gene DOID:630 genetic disease ISO RGD:1323263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177197 TAF8 TATA-box binding protein associated factor 8 gene DOID:0050444 infantile Refsum disease ISO RGD:1318181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12177197 TAF8 TATA-box binding protein associated factor 8 gene DOID:630 genetic disease ISO RGD:1318181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177197 TAF8 TATA-box binding protein associated factor 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318181 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 12177197 TAF8 TATA-box binding protein associated factor 8 gene DOID:9007324 NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY ISO RGD:1318181 D RGD:7240710 20221221 OMIM 12177197 TAF8 TATA-box binding protein associated factor 8 gene DOID:9007324 NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY ISO RGD:1318181 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy PMID:25741868|PMID:29648665|PMID:35759269 12177197 TAF8 TATA-box binding protein associated factor 8 gene DOID:9007462 Partial Agenesis of Corpus Callosum ISO RGD:1318181 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Partial agenesis of the corpus callosum PMID:25741868|PMID:29648665|PMID:35759269 12177197 TAF8 TATA-box binding protein associated factor 8 gene DOID:905 Zellweger syndrome ISO RGD:1318181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12177224 TFAP2D transcription factor AP-2 delta gene DOID:630 genetic disease ISO RGD:1347905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177236 HAS2 hyaluronan synthase 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:732743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12177236 HAS2 hyaluronan synthase 2 gene DOID:2987 familial Mediterranean fever IAGP D RGD:12801476 20230405 OMIA Periodic Fever Syndrome PMID:21437276|PMID:20178474|PMID:1606750|PMID:20080661|PMID:24130694|PMID:21718367|PMID:25040095|PMID:27107962|PMID:28472921|PMID:36978210 12177236 HAS2 hyaluronan synthase 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:2781 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:11283406|REF_RGD_ID:9588631 12177236 HAS2 hyaluronan synthase 2 gene DOID:630 genetic disease ISO RGD:732743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177236 HAS2 hyaluronan synthase 2 gene DOID:6432 pulmonary hypertension ISO RGD:2781 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19915162|REF_RGD_ID:9588633 12177236 HAS2 hyaluronan synthase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2781 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:renal medulla PMID:18441392|REF_RGD_ID:9588630 12177236 HAS2 hyaluronan synthase 2 gene DOID:9003936 Cardiomegaly ISO RGD:2781 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:18196276|REF_RGD_ID:2289364 12177236 HAS2 hyaluronan synthase 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2781 D RGD:9068941 20200609 RGD PMID:22529164|REF_RGD_ID:9588636 12177236 HAS2 hyaluronan synthase 2 gene DOID:9409 diabetes insipidus ISO RGD:2781 D RGD:9068941 20200609 RGD PMID:19496322|REF_RGD_ID:9588637 12177244 SPRTN SprT-like N-terminal domain gene DOID:0111264 Ruijs-Aalfs syndrome ISO RGD:1605027 D RGD:7240710 20180130 OMIM 12177244 SPRTN SprT-like N-terminal domain gene DOID:0111264 Ruijs-Aalfs syndrome ISO RGD:1605027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progeroid features-hepatocellular carcinoma predisposition syndrome PMID:12503110|PMID:25261934|PMID:25741868 12177244 SPRTN SprT-like N-terminal domain gene DOID:1540 parathyroid carcinoma ISO RGD:1605027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12177244 SPRTN SprT-like N-terminal domain gene DOID:3911 progeria ISO RGD:1605027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25261934 12177244 SPRTN SprT-like N-terminal domain gene DOID:630 genetic disease ISO RGD:1605027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177244 SPRTN SprT-like N-terminal domain gene DOID:684 hepatocellular carcinoma ISO RGD:1605027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25261934 12177244 SPRTN SprT-like N-terminal domain gene DOID:9002981 Genomic Instability ISO RGD:1605027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25261934 12177244 SPRTN SprT-like N-terminal domain gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1605027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 12177244 SPRTN SprT-like N-terminal domain gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12177256 GTF3C1 general transcription factor IIIC subunit 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 12177256 GTF3C1 general transcription factor IIIC subunit 1 gene DOID:630 genetic disease ISO RGD:736274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177256 GTF3C1 general transcription factor IIIC subunit 1 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:736274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 12177302 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:0050861 colorectal adenocarcinoma severity ISO RGD:68584 D RGD:9068941 20200609 RGD DNA:amplification: (human) PMID:17289873|REF_RGD_ID:9693694 12177302 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:1059 intellectual disability ISO RGD:68584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:23020937|PMID:25741868|PMID:26264464|PMID:26818738|PMID:28492532|PMID:28628100|PMID:32581362|PMID:32860008 12177302 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:1059 intellectual disability ISO RGD:68584 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:25741868|PMID:26264464|PMID:26818738|PMID:28492532|PMID:32581362|PMID:32860008 12177302 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:68584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12177302 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:1826 epilepsy ISO RGD:68584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:23020937|PMID:25741868|PMID:26264464|PMID:26818738|PMID:28492532|PMID:28628100|PMID:32581362|PMID:32860008 12177302 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:3347 osteosarcoma ISO RGD:68584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22248279 12177302 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:4450 renal cell carcinoma ISO RGD:68584 D RGD:9068941 20200609 RGD protein:increased expression:kidney (human) PMID:18777199|REF_RGD_ID:9693695 12177302 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:630 genetic disease ISO RGD:68584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23020937|PMID:25741868|PMID:25915598|PMID:26264464|PMID:26818738|PMID:27516594|PMID:28492532|PMID:28628100|PMID:32581362|PMID:32860008|PMID:33619735 12177302 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:68584 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:17022810|REF_RGD_ID:9693723 12177302 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:9002680 Zimmermann-Laband Syndrome 1 ISO RGD:68584 D RGD:7240710 20191113 OMIM 12177302 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:9002680 Zimmermann-Laband Syndrome 1 ISO RGD:68584 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 PMID:18541964|PMID:20683999|PMID:23020937|PMID:23994350|PMID:24357613|PMID:25420144|PMID:25741868|PMID:25915598|PMID:26264464|PMID:26818738|PMID:27267311|PMID:28492532|PMID:28628100|PMID:32581362|PMID:32860008|PMID:33619735 12177302 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:9004260 Zimmerman Laband Syndrome ISO RGD:68584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laband syndrome PMID:23020937|PMID:25741868|PMID:26264464|PMID:26818738|PMID:28492532|PMID:28628100|PMID:32581362|PMID:32860008 12177302 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12177302 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:9007410 Temple-Baraitser syndrome ISO RGD:68584 D RGD:7240710 20180130 OMIM 12177302 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:9007410 Temple-Baraitser syndrome ISO RGD:68584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: KCNH1 associated disorder | ClinVar Annotator: match by term: Temple-Baraitser syndrome PMID:18203178|PMID:20683999|PMID:23020937|PMID:24357613|PMID:25420144|PMID:25741868|PMID:25915598|PMID:26264464|PMID:26818738|PMID:28492532|PMID:28628100|PMID:32581362|PMID:32860008|PMID:33619735 12177302 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:9008582 Developmental Disease ISO RGD:68584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12177302 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:68584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17520698 12177302 KCNH1 potassium voltage-gated channel subfamily H member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:68584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12177317 MIB1 MIB E3 ubiquitin protein ligase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1316242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12177317 MIB1 MIB E3 ubiquitin protein ligase 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1316242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 12177317 MIB1 MIB E3 ubiquitin protein ligase 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1316242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 12177317 MIB1 MIB E3 ubiquitin protein ligase 1 gene DOID:1059 intellectual disability ISO RGD:1316242 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12177317 MIB1 MIB E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1316242 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12177317 MIB1 MIB E3 ubiquitin protein ligase 1 gene DOID:9003397 Atrioventricular Septal Defect 5 ISO RGD:1316242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect 5 PMID:22318994|PMID:28492532 12177317 MIB1 MIB E3 ubiquitin protein ligase 1 gene DOID:9004515 Left Ventricular Noncompaction 7 ISO RGD:1316242 D RGD:7240710 20180130 OMIM 12177317 MIB1 MIB E3 ubiquitin protein ligase 1 gene DOID:9004515 Left Ventricular Noncompaction 7 ISO RGD:1316242 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 7 PMID:23314057|PMID:25741868|PMID:26188975|PMID:28492532|PMID:28530678|PMID:29540472|PMID:30322850|PMID:32880476|PMID:33057194 12177317 MIB1 MIB E3 ubiquitin protein ligase 1 gene DOID:9007614 Paroxysmal Atrial Fibrillation ISO RGD:1316242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal atrial fibrillation 12177341 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:0050646 distal arthrogryposis ISO RGD:1345467 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:25741868 12177341 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1345467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12177341 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 ISO RGD:1345467 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Carpenter-Waziri syndrome PMID:25741868 12177341 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:0081098 autosomal recessive intellectual developmental disorder 13 ISO RGD:1345467 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 13 PMID:25741868 12177341 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1345467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:11152147|PMID:24726473|PMID:25741868|PMID:27714920|PMID:27974811|PMID:31680123|PMID:8423615 12177341 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:0111607 distal arthrogryposis type 3 ISO RGD:1345467 D RGD:7240710 20180130 OMIM 12177341 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:0111607 distal arthrogryposis type 3 ISO RGD:1345467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gordon syndrome PMID:11152147|PMID:24726473|PMID:25741868|PMID:27653382|PMID:27714920|PMID:27843126|PMID:28492532|PMID:30285720|PMID:31680123|PMID:8423615 12177341 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:0111608 distal arthrogryposis type 5 ISO RGD:1345467 D RGD:7240710 20180130 OMIM 12177341 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:0111608 distal arthrogryposis type 5 ISO RGD:1345467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome PMID:11152147|PMID:15103714|PMID:1941966|PMID:23487782|PMID:24726473|PMID:25741868|PMID:27714920|PMID:28492532|PMID:31680123|PMID:32860008|PMID:32901917|PMID:8423615|PMID:8533802 12177341 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:1059 intellectual disability ISO RGD:1345467 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12177341 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:12849 autistic disorder ISO RGD:1345467 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 12177341 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:1969 cerebral palsy ISO RGD:1345467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12177341 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:423 myopathy ISO RGD:1345467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 12177341 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:5419 schizophrenia ISO RGD:1345467 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12177341 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:543 dystonia ISO RGD:1345467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 12177341 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:630 genetic disease ISO RGD:1345467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11152147|PMID:15103714|PMID:24726473|PMID:25741868|PMID:27714920|PMID:28492532|PMID:31680123|PMID:8423615 12177341 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:9000467 Marden-Walker Syndrome ISO RGD:1345467 D RGD:7240710 20180130 OMIM 12177341 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:9000467 Marden-Walker Syndrome ISO RGD:1345467 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Marden-Walker syndrome PMID:24726473|PMID:25741868|PMID:28492532 12177341 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:9001276 Failure to Thrive ISO RGD:1345467 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 12177341 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:1345467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia 12177341 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:9005963 Distal Arthrogryposis, with Impaired Proprioception and Touch ISO RGD:1345467 D RGD:7240710 20190315 OMIM 12177341 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:9005963 Distal Arthrogryposis, with Impaired Proprioception and Touch ISO RGD:1345467 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, with impaired proprioception and touch PMID:11152147|PMID:24726473|PMID:25741868|PMID:27607563|PMID:27653382|PMID:27714920|PMID:27843126|PMID:27974811|PMID:28492532|PMID:31680123|PMID:8423615 12177341 PIEZO2 piezo type mechanosensitive ion channel component 2 gene DOID:9006836 Contracture ISO RGD:1345467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 12177397 MAP4K5 mitogen-activated protein kinase kinase kinase kinase 5 gene DOID:0070156 hereditary sensory neuropathy type 1D ISO RGD:1346481 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type 1D PMID:25741868|PMID:26467025|PMID:28492532 12177397 MAP4K5 mitogen-activated protein kinase kinase kinase kinase 5 gene DOID:0110791 hereditary spastic paraplegia 3A ISO RGD:1346481 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 12177397 MAP4K5 mitogen-activated protein kinase kinase kinase kinase 5 gene DOID:630 genetic disease ISO RGD:1346481 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12177439 ADCK1 aarF domain containing kinase 1 gene DOID:630 genetic disease ISO RGD:1317936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177468 FMNL1 formin like 1 gene DOID:630 genetic disease ISO RGD:1322289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177468 FMNL1 formin like 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12177506 TSR1 TSR1 ribosome maturation factor gene DOID:0070297 primary microcephaly ISO RGD:1603994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:25741868 12177506 TSR1 TSR1 ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1603994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12177506 TSR1 TSR1 ribosome maturation factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12177526 XYLT1 xylosyltransferase 1 gene DOID:0060462 Desbuquois dysplasia ISO RGD:737486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12177526 XYLT1 xylosyltransferase 1 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:737486 D RGD:7240710 20180130 OMIM 12177526 XYLT1 xylosyltransferase 1 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:737486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, modifier of severity of PMID:16571645|PMID:24581741|PMID:25741868|PMID:28085539|PMID:28492532 12177526 XYLT1 xylosyltransferase 1 gene DOID:303 substance-related disorder ISO RGD:737486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12177526 XYLT1 xylosyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:737486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12177526 XYLT1 xylosyltransferase 1 gene DOID:557 kidney disease ISO RGD:620093 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:18095597|REF_RGD_ID:2313146 12177526 XYLT1 xylosyltransferase 1 gene DOID:630 genetic disease ISO RGD:737486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 12177526 XYLT1 xylosyltransferase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620093 D RGD:9068941 20200609 RGD PMID:18765417|REF_RGD_ID:2313145 12177526 XYLT1 xylosyltransferase 1 gene DOID:9001046 Desbuquois Dysplasia 2 ISO RGD:737486 D RGD:7240710 20180130 OMIM 12177526 XYLT1 xylosyltransferase 1 gene DOID:9001046 Desbuquois Dysplasia 2 ISO RGD:737486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 2 PMID:16571645|PMID:22711505|PMID:23982343|PMID:24581741|PMID:25741868|PMID:28462984|PMID:28492532|PMID:30554721 12177526 XYLT1 xylosyltransferase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737486 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:missense mutation:cds:p.A115S (human) PMID:17003309|REF_RGD_ID:2313138 12177526 XYLT1 xylosyltransferase 1 gene DOID:9002457 Experimental Arthritis ISO RGD:620093 D RGD:9068941 20200609 RGD mRNA:decreased expression:articular cartilage PMID:19001053|REF_RGD_ID:2313142 12177526 XYLT1 xylosyltransferase 1 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:737486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:16376579|PMID:16571645|PMID:17576681|PMID:24581741|PMID:25741868|PMID:26601923|PMID:28085539|PMID:28229453|PMID:28462984|PMID:28492532|PMID:30554721|PMID:31785789|PMID:9536098 12177526 XYLT1 xylosyltransferase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737486 D RGD:9068941 20200609 RGD DNA:missense mutation, polymorphisms:cds, intron :p.A115S, IVS3+10C>T, IVS3+30G>C (human) PMID:16759312|REF_RGD_ID:2313136 12177546 PPIG peptidylprolyl isomerase G gene DOID:630 genetic disease ISO RGD:731455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177579 TANGO2 transport and golgi organization 2 homolog gene DOID:0050473 Alstrom syndrome ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:25741868|PMID:28492532 12177579 TANGO2 transport and golgi organization 2 homolog gene DOID:0060041 autism spectrum disorder ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12177579 TANGO2 transport and golgi organization 2 homolog gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1606461 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12177579 TANGO2 transport and golgi organization 2 homolog gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1606461 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12177579 TANGO2 transport and golgi organization 2 homolog gene DOID:0111996 immunodeficiency 51 ISO RGD:1606461 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12177579 TANGO2 transport and golgi organization 2 homolog gene DOID:1059 intellectual disability ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:16199547|PMID:25741868|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29369572|PMID:30650451|PMID:32576985 12177579 TANGO2 transport and golgi organization 2 homolog gene DOID:11198 DiGeorge syndrome ISO RGD:1606461 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12177579 TANGO2 transport and golgi organization 2 homolog gene DOID:11372 megacolon ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12177579 TANGO2 transport and golgi organization 2 homolog gene DOID:12583 velocardiofacial syndrome ISO RGD:1606461 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12177579 TANGO2 transport and golgi organization 2 homolog gene DOID:12849 autistic disorder ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12177579 TANGO2 transport and golgi organization 2 homolog gene DOID:1826 epilepsy ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:16199547|PMID:25741868|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29369572|PMID:30650451|PMID:32576985 12177579 TANGO2 transport and golgi organization 2 homolog gene DOID:2213 hemorrhagic disease ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 12177579 TANGO2 transport and golgi organization 2 homolog gene DOID:5419 schizophrenia ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12177579 TANGO2 transport and golgi organization 2 homolog gene DOID:612 primary immunodeficiency disease ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12177579 TANGO2 transport and golgi organization 2 homolog gene DOID:630 genetic disease ISO RGD:1606461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26805781|PMID:28492532 12177579 TANGO2 transport and golgi organization 2 homolog gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:16199547|PMID:25741868|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29369572|PMID:30650451|PMID:32576985 12177579 TANGO2 transport and golgi organization 2 homolog gene DOID:9003871 Venous Thrombosis ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 12177579 TANGO2 transport and golgi organization 2 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12177579 TANGO2 transport and golgi organization 2 homolog gene DOID:9005324 Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration ISO RGD:1606461 D RGD:7240710 20190315 OMIM 12177579 TANGO2 transport and golgi organization 2 homolog gene DOID:9005324 Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration ISO RGD:1606461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION | ClinVar Annotator: match by term: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:26805781|PMID:26805782|PMID:27711071|PMID:28492532|PMID:29369572|PMID:30245509|PMID:30650451|PMID:31276219|PMID:31339582|PMID:32573669|PMID:32576985|PMID:32929747|PMID:9536098 12177579 TANGO2 transport and golgi organization 2 homolog gene DOID:9007661 Dwarfism ISO RGD:1606461 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12177579 TANGO2 transport and golgi organization 2 homolog gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1606461 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12177579 TANGO2 transport and golgi organization 2 homolog gene DOID:963 episodic ataxia ISO RGD:1606461 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Hereditary episodic ataxia PMID:32581362 12177597 GRWD1 glutamate rich WD repeat containing 1 gene DOID:10283 prostate cancer ISO RGD:1344190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12177597 GRWD1 glutamate rich WD repeat containing 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1344190 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12177597 GRWD1 glutamate rich WD repeat containing 1 gene DOID:630 genetic disease ISO RGD:1344190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177597 GRWD1 glutamate rich WD repeat containing 1 gene DOID:9006205 Animal Disease Models ISO RGD:1344190 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12177608 CREB3L4 cAMP responsive element binding protein 3 like 4 gene DOID:0070048 GAND syndrome ISO RGD:1347233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 12177608 CREB3L4 cAMP responsive element binding protein 3 like 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1347233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12177608 CREB3L4 cAMP responsive element binding protein 3 like 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1347233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12177608 CREB3L4 cAMP responsive element binding protein 3 like 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1347233 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12177608 CREB3L4 cAMP responsive element binding protein 3 like 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1347233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12177608 CREB3L4 cAMP responsive element binding protein 3 like 4 gene DOID:2526 prostate adenocarcinoma ISO RGD:1347233 D RGD:9068941 20200609 RGD PMID:11830526|PMID:17270658|REF_RGD_ID:13504714|REF_RGD_ID:13504715 12177608 CREB3L4 cAMP responsive element binding protein 3 like 4 gene DOID:5812 MHC class II deficiency ISO RGD:1347233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12177608 CREB3L4 cAMP responsive element binding protein 3 like 4 gene DOID:630 genetic disease ISO RGD:1347233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177608 CREB3L4 cAMP responsive element binding protein 3 like 4 gene DOID:8634 prostate carcinoma in situ severity ISO RGD:1347233 D RGD:9068941 20200609 RGD PMID:17270658|REF_RGD_ID:13504714 12177608 CREB3L4 cAMP responsive element binding protein 3 like 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347233 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 12177608 CREB3L4 cAMP responsive element binding protein 3 like 4 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1347233 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 12177608 CREB3L4 cAMP responsive element binding protein 3 like 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12177628 MS4A7 membrane spanning 4-domains A7 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1313641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12177628 MS4A7 membrane spanning 4-domains A7 gene DOID:1059 intellectual disability ISO RGD:1313641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12177628 MS4A7 membrane spanning 4-domains A7 gene DOID:630 genetic disease ISO RGD:1313641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177641 TERF1 telomeric repeat binding factor 1 gene DOID:10534 stomach cancer ISO RGD:1323104 D RGD:9068941 20200609 RGD protein:increased expression:gastric mucosa (human) PMID:20127252|REF_RGD_ID:2317220 12177641 TERF1 telomeric repeat binding factor 1 gene DOID:1612 breast cancer ISO RGD:1323104 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast tumor (human) PMID:18720522|REF_RGD_ID:2317222 12177641 TERF1 telomeric repeat binding factor 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1323105 D RGD:9068941 20200609 RGD PMID:19679647|REF_RGD_ID:2317221 12177641 TERF1 telomeric repeat binding factor 1 gene DOID:630 genetic disease ISO RGD:1323104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177663 OR14J1 olfactory receptor family 14 subfamily J member 1 gene DOID:11372 megacolon ISO RGD:1344262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12177663 OR14J1 olfactory receptor family 14 subfamily J member 1 gene DOID:630 genetic disease ISO RGD:1344262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177677 FAM110B family with sequence similarity 110 member B gene DOID:630 genetic disease ISO RGD:1605314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177777 ZCCHC18 zinc finger CCHC-type containing 18 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:2291777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12177777 ZCCHC18 zinc finger CCHC-type containing 18 gene DOID:12849 autistic disorder ISO RGD:2291777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12177777 ZCCHC18 zinc finger CCHC-type containing 18 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:2291777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:1720927|PMID:9633722|PMID:9634530 12177777 ZCCHC18 zinc finger CCHC-type containing 18 gene DOID:630 genetic disease ISO RGD:2291777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:0014667 disease of metabolism ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19142110 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:10763 hypertension no_association ISO RGD:734107 D RGD:9068941 20200609 RGD DNA:polymorphism: :g.102T>C PMID:15659047|REF_RGD_ID:1624371 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:10763 hypertension susceptibility ISO RGD:734107 D RGD:9068941 20200609 RGD DNA:polymorphism: :102T>C PMID:11378836|REF_RGD_ID:1624375 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:10933 obsessive-compulsive disorder ISO RGD:734107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obsessive-compulsive disorder, susceptibility to PMID:12476319|PMID:15364038|PMID:9635956 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:10933 obsessive-compulsive disorder susceptibility ISO RGD:734107 D RGD:7240710 20230517 OMIM 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:12849 autistic disorder ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17280648 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:13948 bladder neck obstruction ISO RGD:61800 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:23344575|REF_RGD_ID:7257660 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:1470 major depressive disorder susceptibility ISO RGD:734107 D RGD:7240710 20230517 OMIM 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:1561 cognitive disorder ISO RGD:734107 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:29294249 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:1574 alcohol use disorder susceptibility ISO RGD:734107 D RGD:7240710 20230517 OMIM 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:2468 psychotic disorder ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:2841 asthma ISO RGD:734107 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:25322896 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22048642 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:3312 bipolar disorder ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:4195 hyperglycemia ISO RGD:61800 D RGD:9068941 20200609 RGD PMID:9128844|REF_RGD_ID:1624376 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:4989 pancreatitis ISO RGD:61800 D RGD:9068941 20200609 RGD PMID:16183055|REF_RGD_ID:1624393 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:5419 schizophrenia ISO RGD:734107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia, susceptibility to PMID:8622505|PMID:9130948 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:5419 schizophrenia susceptibility ISO RGD:734107 D RGD:7240710 20230517 OMIM 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:6000 congestive heart failure ISO RGD:61800 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:16002744|REF_RGD_ID:1600503 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:630 genetic disease ISO RGD:734107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:6364 migraine ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12482207 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:679 basal ganglia disease ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18480698 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:8689 anorexia nervosa susceptibility ISO RGD:734107 D RGD:7240710 20230517 OMIM 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9000972 Fever ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19879056 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9002165 Diabetic Nephropathies ISO RGD:61800 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:18175064|REF_RGD_ID:7257686 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9002165 Diabetic Nephropathies ISO RGD:734107 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus Type 2; PMID:12213354|REF_RGD_ID:7257687 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9002211 Hyperalgesia ISO RGD:61800 D RGD:9068941 20200609 RGD associated with Diabetic neuropathies; PMID:20531396|REF_RGD_ID:7257680 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9002211 Hyperalgesia ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17888573|PMID:18930597 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9002362 Hyperkinesis ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16300424|PMID:19347958 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9002669 Hypoxia ISO RGD:61800 D RGD:9068941 20200609 RGD PMID:16362404|REF_RGD_ID:1624392 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9002916 Hyperphagia ISO RGD:61800 D RGD:9068941 20200609 RGD PMID:12392096|REF_RGD_ID:1624374 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9003126 Hallucinations ISO RGD:734107 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:29748632 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9005632 Cocaine-Related Disorders ISO RGD:734107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cocaine-Related Disorders PMID:12476319|PMID:15364038|PMID:9635956 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61800 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21521772|REF_RGD_ID:5135278 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9007692 Insulin Resistance ISO RGD:734107 D RGD:9068941 20200609 RGD associated with Peripheral Vascular Diseases PMID:17062970|REF_RGD_ID:1624367 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9007923 Back Pain ISO RGD:61800 D RGD:9068941 20200609 RGD PMID:17268262|REF_RGD_ID:1624379 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9008023 Memory Disorders ISO RGD:734107 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:29294249 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9008675 Dyskinesias ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11526996 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9970 obesity ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17097612 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9970 obesity no_association ISO RGD:734107 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-1438G>A PMID:16491645|REF_RGD_ID:1624369 12177797 HTR2A 5-hydroxytryptamine receptor 2A gene DOID:9970 obesity susceptibility ISO RGD:734107 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-1438G>A PMID:16328014|REF_RGD_ID:1624370 12177802 UPF1 UPF1 RNA helicase and ATPase gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1313946 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 12177802 UPF1 UPF1 RNA helicase and ATPase gene DOID:1059 intellectual disability ISO RGD:1313946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability syndrome PMID:25741868 12177802 UPF1 UPF1 RNA helicase and ATPase gene DOID:630 genetic disease ISO RGD:1313946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177802 UPF1 UPF1 RNA helicase and ATPase gene DOID:9008582 Developmental Disease ISO RGD:1313946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12177802 UPF1 UPF1 RNA helicase and ATPase gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1313946 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12177835 CYYR1 cysteine and tyrosine rich 1 gene DOID:10652 Alzheimer's disease ISO RGD:1354035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562|PMID:25741868 12177835 CYYR1 cysteine and tyrosine rich 1 gene DOID:630 genetic disease ISO RGD:1354035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177835 CYYR1 cysteine and tyrosine rich 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12177843 DRG2 developmentally regulated GTP binding protein 2 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1343223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 12177843 DRG2 developmentally regulated GTP binding protein 2 gene DOID:0050777 Joubert syndrome ISO RGD:1343223 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12177843 DRG2 developmentally regulated GTP binding protein 2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1343223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12177843 DRG2 developmentally regulated GTP binding protein 2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1343223 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12177843 DRG2 developmentally regulated GTP binding protein 2 gene DOID:12849 autistic disorder ISO RGD:1343223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12177843 DRG2 developmentally regulated GTP binding protein 2 gene DOID:630 genetic disease ISO RGD:1343223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177860 TPPP3 tubulin polymerization promoting protein family member 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12177860 TPPP3 tubulin polymerization promoting protein family member 3 gene DOID:630 genetic disease ISO RGD:1604620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177877 ZC2HC1C zinc finger C2HC-type containing 1C gene DOID:1059 intellectual disability ISO RGD:1316129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12177877 ZC2HC1C zinc finger C2HC-type containing 1C gene DOID:630 genetic disease ISO RGD:1316129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177890 DCT dopachrome tautomerase gene DOID:0110878 holoprosencephaly 5 ISO RGD:1342702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 12177890 DCT dopachrome tautomerase gene DOID:630 genetic disease ISO RGD:1342702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177890 DCT dopachrome tautomerase gene DOID:9001386 Albinism ISO RGD:1342702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Albinism PMID:33100333 12177890 DCT dopachrome tautomerase gene DOID:9001432 Oculocutaneous Albinism Type VIII ISO RGD:1342702 D RGD:7240710 20210203 OMIM 12177890 DCT dopachrome tautomerase gene DOID:9001432 Oculocutaneous Albinism Type VIII ISO RGD:1342702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE VIII PMID:33100333|PMID:33959807 12177890 DCT dopachrome tautomerase gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1342702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12177901 GZF1 GDNF inducible zinc finger protein 1 gene DOID:630 genetic disease ISO RGD:1318777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12177901 GZF1 GDNF inducible zinc finger protein 1 gene DOID:9001623 JOINT LAXITY, SHORT STATURE, AND MYOPIA ISO RGD:1318777 D RGD:7240710 20190315 OMIM 12177901 GZF1 GDNF inducible zinc finger protein 1 gene DOID:9001623 JOINT LAXITY, SHORT STATURE, AND MYOPIA ISO RGD:1318777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joint laxity, short stature, and myopia PMID:25741868|PMID:28475863|PMID:28492532|PMID:35802133|PMID:36633841 12177922 COQ6 coenzyme Q6, monooxygenase gene DOID:0070243 primary coenzyme Q10 deficiency 6 ISO RGD:1322454 D RGD:7240710 20180130 OMIM 12177922 COQ6 coenzyme Q6, monooxygenase gene DOID:0070243 primary coenzyme Q10 deficiency 6 ISO RGD:1322454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial steroid-resistant nephrotic syndrome with sensorineural deafness PMID:21540551|PMID:24140869|PMID:25741868|PMID:28044327|PMID:28117207|PMID:28173653|PMID:28492532|PMID:30232548|PMID:30584653|PMID:30682496|PMID:31937884 12177922 COQ6 coenzyme Q6, monooxygenase gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1322454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 12177922 COQ6 coenzyme Q6, monooxygenase gene DOID:1059 intellectual disability ISO RGD:1322454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12177922 COQ6 coenzyme Q6, monooxygenase gene DOID:630 genetic disease ISO RGD:1322454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12177939 TIMM8B translocase of inner mitochondrial membrane 8 homolog B gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:734090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 12177939 TIMM8B translocase of inner mitochondrial membrane 8 homolog B gene DOID:0080600 COVID-19 ISO RGD:734090 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12177939 TIMM8B translocase of inner mitochondrial membrane 8 homolog B gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:734090 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 12177939 TIMM8B translocase of inner mitochondrial membrane 8 homolog B gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:734090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 12177939 TIMM8B translocase of inner mitochondrial membrane 8 homolog B gene DOID:1059 intellectual disability ISO RGD:734090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12177939 TIMM8B translocase of inner mitochondrial membrane 8 homolog B gene DOID:12704 ataxia telangiectasia ISO RGD:734090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12177939 TIMM8B translocase of inner mitochondrial membrane 8 homolog B gene DOID:630 genetic disease ISO RGD:734090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177939 TIMM8B translocase of inner mitochondrial membrane 8 homolog B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:734090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12177939 TIMM8B translocase of inner mitochondrial membrane 8 homolog B gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:734090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 12177948 ERF ETS2 repressor factor gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1323738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12177948 ERF ETS2 repressor factor gene DOID:1342 congenital hypoplastic anemia ISO RGD:1323738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12177948 ERF ETS2 repressor factor gene DOID:1882 atrial heart septal defect ISO RGD:1323738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12177948 ERF ETS2 repressor factor gene DOID:2340 craniosynostosis ISO RGD:1323738 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:23354439|PMID:25741868|PMID:26097063|PMID:28492532|PMID:28808027|PMID:30758909|PMID:31785789 12177948 ERF ETS2 repressor factor gene DOID:2340 craniosynostosis ISO RGD:1323738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:17576681|PMID:23354439|PMID:25741868|PMID:26097063|PMID:28492532|PMID:28808027|PMID:30758909|PMID:31754721|PMID:31785789|PMID:32370745|PMID:9536098 12177948 ERF ETS2 repressor factor gene DOID:5419 schizophrenia ISO RGD:1323738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12177948 ERF ETS2 repressor factor gene DOID:630 genetic disease ISO RGD:1323738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23354439|PMID:25741868|PMID:26097063|PMID:27738187|PMID:28492532|PMID:28808027|PMID:30569521|PMID:30728880|PMID:30758909|PMID:31837199|PMID:32370745|PMID:32592542|PMID:8418638 12177948 ERF ETS2 repressor factor gene DOID:9001260 CHITAYAT SYNDROME ISO RGD:1323738 D RGD:7240710 20190315 OMIM 12177948 ERF ETS2 repressor factor gene DOID:9001260 CHITAYAT SYNDROME ISO RGD:1323738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chitayat syndrome PMID:23354439|PMID:25741868|PMID:27738187|PMID:28492532|PMID:30569521|PMID:30728880|PMID:32592542|PMID:8418638 12177948 ERF ETS2 repressor factor gene DOID:9001900 Arnold-Chiari Malformation ISO RGD:1323738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23354439 12177948 ERF ETS2 repressor factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12177948 ERF ETS2 repressor factor gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1323738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12177948 ERF ETS2 repressor factor gene DOID:9003816 Macrocephaly ISO RGD:1323738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly 12177948 ERF ETS2 repressor factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23354439|PMID:25741868|PMID:28492532|PMID:30758909|PMID:32370745 12177948 ERF ETS2 repressor factor gene DOID:9004470 Craniosynostosis 4 ISO RGD:1323738 D RGD:7240710 20190327 OMIM 12177948 ERF ETS2 repressor factor gene DOID:9004470 Craniosynostosis 4 ISO RGD:1323738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 4 PMID:23354439|PMID:25741868|PMID:26097063|PMID:27738187|PMID:28492532|PMID:28808027|PMID:30758909|PMID:32370745 12177948 ERF ETS2 repressor factor gene DOID:9005466 Language Development Disorders ISO RGD:1323738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23354439 12177948 ERF ETS2 repressor factor gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1323738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 12177948 ERF ETS2 repressor factor gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1323738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23354439 12177948 ERF ETS2 repressor factor gene DOID:9269 maple syrup urine disease ISO RGD:1323738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12177948 ERF ETS2 repressor factor gene DOID:936 brain disease ISO RGD:1323738 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 12177948 ERF ETS2 repressor factor gene DOID:9538 multiple myeloma ISO RGD:1323738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12177957 RHOU ras homolog family member U gene DOID:1540 parathyroid carcinoma ISO RGD:1347334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12177957 RHOU ras homolog family member U gene DOID:630 genetic disease ISO RGD:1347334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177957 RHOU ras homolog family member U gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12177980 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:3267 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:liver (rat) treatment with INT-767 PMID:30038487|REF_RGD_ID:15092090 12177980 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:10608 celiac disease ISO RGD:1347922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 12177980 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1347922 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17440948|REF_RGD_ID:2311642 12177980 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:1347922 D RGD:9068941 20200609 RGD DNA:SNP: :rs8192708(human) PMID:20574532|REF_RGD_ID:10427727 12177980 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:4195 hyperglycemia ISO RGD:11062 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16271515|REF_RGD_ID:2311645 12177980 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:6000 congestive heart failure ISO RGD:1347922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 12177980 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:630 genetic disease ISO RGD:1347922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12177980 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1347922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144|PMID:28284560 12177980 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 12177980 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3267 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:12538794|REF_RGD_ID:10448276 12177980 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:9003263 Phosphoenolpyruvate Carboxykinase Deficiency ISO RGD:1347922 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase (GTP) deficiency PMID:28492532 12177980 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1347922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20363216 12177980 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3267 D RGD:9068941 20200609 RGD PMID:17651728|REF_RGD_ID:2311641 12177980 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:9005930 Endotoxemia ISO RGD:3267 D RGD:9068941 20200609 RGD PMID:12217886|PMID:19268478|REF_RGD_ID:10427879|REF_RGD_ID:625688 12177980 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:9007493 Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic ISO RGD:1347922 D RGD:7240710 20230505 OMIM 12177980 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:9007493 Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic ISO RGD:1347922 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, cytosolic PMID:1092127|PMID:24863970|PMID:25741868|PMID:26971250|PMID:28216384|PMID:28492532|PMID:33445193 12177980 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:11062 D RGD:9068941 20200609 RGD PMID:18443203|REF_RGD_ID:2311640 12177980 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347922 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:19070910|REF_RGD_ID:2311639 12177980 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3267 D RGD:9068941 20200609 RGD PMID:17242918|REF_RGD_ID:2311643 12177980 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1347922 D RGD:9068941 20200609 RGD DNA:polymorphism:232C>G PMID:16978381|REF_RGD_ID:1601239 12177980 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1347922 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:C>G PMID:16620271|REF_RGD_ID:1601241 12177980 PCK1 phosphoenolpyruvate carboxykinase 1 gene DOID:9970 obesity ISO RGD:1347922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12177999 TATDN1 TatD DNase domain containing 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1313148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12177999 TATDN1 TatD DNase domain containing 1 gene DOID:630 genetic disease ISO RGD:1313148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12177999 TATDN1 TatD DNase domain containing 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1313148 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12178044 AHR aryl hydrocarbon receptor gene DOID:0014667 disease of metabolism ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25768209 12178044 AHR aryl hydrocarbon receptor gene DOID:0060041 autism spectrum disorder ISO RGD:731071 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12178044 AHR aryl hydrocarbon receptor gene DOID:0060180 colitis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27783946 12178044 AHR aryl hydrocarbon receptor gene DOID:0080011 bone resorption disease ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19934163 12178044 AHR aryl hydrocarbon receptor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29416063 12178044 AHR aryl hydrocarbon receptor gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:731071 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35687267 12178044 AHR aryl hydrocarbon receptor gene DOID:0112142 retinitis pigmentosa 85 ISO RGD:731071 D RGD:7240710 20190315 OMIM 12178044 AHR aryl hydrocarbon receptor gene DOID:0112142 retinitis pigmentosa 85 ISO RGD:731071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 85 PMID:29726989 12178044 AHR aryl hydrocarbon receptor gene DOID:10325 silicosis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22273745 12178044 AHR aryl hydrocarbon receptor gene DOID:10603 glucose intolerance ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31306034 12178044 AHR aryl hydrocarbon receptor gene DOID:10763 hypertension ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21115475 12178044 AHR aryl hydrocarbon receptor gene DOID:11355 bladder calculus ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22232670 12178044 AHR aryl hydrocarbon receptor gene DOID:12336 male infertility ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21613234 12178044 AHR aryl hydrocarbon receptor gene DOID:13241 Behcet's disease ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25045206 12178044 AHR aryl hydrocarbon receptor gene DOID:14566 disease of cellular proliferation ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22037238 12178044 AHR aryl hydrocarbon receptor gene DOID:161 keratosis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 12178044 AHR aryl hydrocarbon receptor gene DOID:1682 congenital heart disease ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19261855 12178044 AHR aryl hydrocarbon receptor gene DOID:178 vascular disease ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25482063 12178044 AHR aryl hydrocarbon receptor gene DOID:1793 pancreatic cancer ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12203118|PMID:25826687 12178044 AHR aryl hydrocarbon receptor gene DOID:1793 pancreatic cancer ISO RGD:731071 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:12203118|REF_RGD_ID:2325664 12178044 AHR aryl hydrocarbon receptor gene DOID:1936 atherosclerosis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228805 12178044 AHR aryl hydrocarbon receptor gene DOID:2529 splenic disease ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961953 12178044 AHR aryl hydrocarbon receptor gene DOID:2773 contact dermatitis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12178044 AHR aryl hydrocarbon receptor gene DOID:3138 acanthosis nigricans ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 12178044 AHR aryl hydrocarbon receptor gene DOID:3310 atopic dermatitis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 12178044 AHR aryl hydrocarbon receptor gene DOID:3910 lung adenocarcinoma ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12597446 12178044 AHR aryl hydrocarbon receptor gene DOID:409 liver disease ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961953|PMID:8692887 12178044 AHR aryl hydrocarbon receptor gene DOID:4378 peanut allergy ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21804081 12178044 AHR aryl hydrocarbon receptor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12178044 AHR aryl hydrocarbon receptor gene DOID:5082 liver cirrhosis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29416063 12178044 AHR aryl hydrocarbon receptor gene DOID:552 pneumonia ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23337360 12178044 AHR aryl hydrocarbon receptor gene DOID:630 genetic disease ISO RGD:731071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12178044 AHR aryl hydrocarbon receptor gene DOID:7148 rheumatoid arthritis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18617548 12178044 AHR aryl hydrocarbon receptor gene DOID:9000040 Hypertrophy ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961953 12178044 AHR aryl hydrocarbon receptor gene DOID:9000217 Stomach Neoplasms ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12107286 12178044 AHR aryl hydrocarbon receptor gene DOID:9000310 Lung Injury ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25831079 12178044 AHR aryl hydrocarbon receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21948867 12178044 AHR aryl hydrocarbon receptor gene DOID:9001009 Adult Pancreatic Cancer ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12203118 12178044 AHR aryl hydrocarbon receptor gene DOID:9001310 Tobacco Use Disorder ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25482063 12178044 AHR aryl hydrocarbon receptor gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:731071 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:33836606 12178044 AHR aryl hydrocarbon receptor gene DOID:9001981 Weight Loss ISO RGD:731071 D RGD:9068941 20220609 CTD CTD Direct Evidence: therapeutic PMID:34848246 12178044 AHR aryl hydrocarbon receptor gene DOID:9002170 Experimental Neoplasms ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9496914 12178044 AHR aryl hydrocarbon receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20140206 12178044 AHR aryl hydrocarbon receptor gene DOID:9002457 Experimental Arthritis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194622 12178044 AHR aryl hydrocarbon receptor gene DOID:9002554 Tachycardia ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21115475 12178044 AHR aryl hydrocarbon receptor gene DOID:9002720 Splenomegaly ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8692887 12178044 AHR aryl hydrocarbon receptor gene DOID:9003281 Spontaneous Abortions ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26593447 12178044 AHR aryl hydrocarbon receptor gene DOID:9003370 Dyslipidemias ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21890736 12178044 AHR aryl hydrocarbon receptor gene DOID:9003753 Ureteral Neoplasms ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19755661 12178044 AHR aryl hydrocarbon receptor gene DOID:9003936 Cardiomegaly ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24247421 12178044 AHR aryl hydrocarbon receptor gene DOID:9003984 Hyperpigmentation ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28029781 12178044 AHR aryl hydrocarbon receptor gene DOID:9003996 Birth Weight ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27592400 12178044 AHR aryl hydrocarbon receptor gene DOID:9004462 Atrophy ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961953|PMID:7826670 12178044 AHR aryl hydrocarbon receptor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25826687|PMID:27752740 12178044 AHR aryl hydrocarbon receptor gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14644620|PMID:31016362 12178044 AHR aryl hydrocarbon receptor gene DOID:9004657 Weight Gain ISO RGD:731071 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:27020609|PMID:30813227|PMID:31306034|PMID:36029422 12178044 AHR aryl hydrocarbon receptor gene DOID:9004980 Chronobiology Disorders ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291558 12178044 AHR aryl hydrocarbon receptor gene DOID:9005099 Salmonella Infections, Animal severity ISO RGD:10127 D RGD:9068941 20201022 RGD PMID:24930766|REF_RGD_ID:39939032 12178044 AHR aryl hydrocarbon receptor gene DOID:9005369 Hepatomegaly ISO RGD:731071 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:26278112|PMID:28487374|PMID:33607186|PMID:34848246 12178044 AHR aryl hydrocarbon receptor gene DOID:9005372 Inflammation ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22273745|PMID:25768209 12178044 AHR aryl hydrocarbon receptor gene DOID:9005749 Necrosis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25831079 12178044 AHR aryl hydrocarbon receptor gene DOID:9005930 Endotoxemia severity ISO RGD:10127 D RGD:9068941 20201022 RGD PMID:24930766|REF_RGD_ID:39939032 12178044 AHR aryl hydrocarbon receptor gene DOID:9006202 Pruritus ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 12178044 AHR aryl hydrocarbon receptor gene DOID:9006205 Animal Disease Models ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 12178044 AHR aryl hydrocarbon receptor gene DOID:9006257 Growth Disorders ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961953 12178044 AHR aryl hydrocarbon receptor gene DOID:9006680 Hyperventilation ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21115475 12178044 AHR aryl hydrocarbon receptor gene DOID:9007188 Liver Neoplasms ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19996281|PMID:30346592 12178044 AHR aryl hydrocarbon receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731071 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21890736|PMID:34848246 12178044 AHR aryl hydrocarbon receptor gene DOID:9007456 Female Infertility ISO RGD:731071 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:36029422 12178044 AHR aryl hydrocarbon receptor gene DOID:9007480 Hyperoxia ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23337360 12178044 AHR aryl hydrocarbon receptor gene DOID:9007692 Insulin Resistance ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25734695 12178044 AHR aryl hydrocarbon receptor gene DOID:9008616 Patent Ductus Venosus ISO RGD:731071 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:36029422 12178044 AHR aryl hydrocarbon receptor gene DOID:9008939 Breast Neoplasms ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21515334|PMID:22296396 12178044 AHR aryl hydrocarbon receptor gene DOID:9649 congenital nystagmus ISO RGD:10127 D RGD:9068941 20220825 MouseDO OMIM:164100 | OMIM:193003 | OMIM:300589 | OMIM:300814 | OMIM:608345 | OMIM:614826 12178044 AHR aryl hydrocarbon receptor gene DOID:9649 congenital nystagmus ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23301081 12178044 AHR aryl hydrocarbon receptor gene DOID:9970 obesity ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27020609|PMID:30813227|PMID:31306034 12178044 AHR aryl hydrocarbon receptor gene DOID:9993 hypoglycemia ISO RGD:731071 D RGD:9068941 20220609 CTD CTD Direct Evidence: therapeutic PMID:34848246 12178059 SHCBP1 SHC binding and spindle associated 1 gene DOID:0080600 COVID-19 ISO RGD:1354140 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12178059 SHCBP1 SHC binding and spindle associated 1 gene DOID:5485 synovial sarcoma ISO RGD:1354140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27572315 12178059 SHCBP1 SHC binding and spindle associated 1 gene DOID:630 genetic disease ISO RGD:1354140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178059 SHCBP1 SHC binding and spindle associated 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12178077 CRIM1 cysteine rich transmembrane BMP regulator 1 gene DOID:630 genetic disease ISO RGD:1318641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178104 SERAC1 serine active site containing 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1349770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder PMID:24033266 12178104 SERAC1 serine active site containing 1 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1349770 D RGD:7240710 20180130 OMIM 12178104 SERAC1 serine active site containing 1 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1349770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:16199547|PMID:17576681|PMID:22683713|PMID:23707711|PMID:24033266|PMID:24997715|PMID:25016221|PMID:25741868|PMID:26863999|PMID:27604308|PMID:28482397|PMID:28492532|PMID:28778788|PMID:28916646|PMID:29205472|PMID:31251474|PMID:32005694|PMID:32313153|PMID:33431980|PMID:33613893|PMID:9536098 12178104 SERAC1 serine active site containing 1 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1349770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 12178104 SERAC1 serine active site containing 1 gene DOID:1826 epilepsy ISO RGD:1349770 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12178104 SERAC1 serine active site containing 1 gene DOID:3146 lipid metabolism disorder ISO RGD:1349770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683713 12178104 SERAC1 serine active site containing 1 gene DOID:543 dystonia ISO RGD:1349770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683713 12178104 SERAC1 serine active site containing 1 gene DOID:630 genetic disease ISO RGD:1349770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:33431980|PMID:9536098 12178104 SERAC1 serine active site containing 1 gene DOID:9008681 Deafness ISO RGD:1349770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683713 12178129 KLB klotho beta gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1604985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 12178129 KLB klotho beta gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1604985 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:25741868 12178129 KLB klotho beta gene DOID:10584 retinitis pigmentosa ISO RGD:1331989 D RGD:9068941 20200609 RGD protein:increased expression:outer nuclear layer: PMID:23796581|REF_RGD_ID:10403060 12178129 KLB klotho beta gene DOID:13938 amenorrhea ISO RGD:1604985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 12178129 KLB klotho beta gene DOID:630 genetic disease ISO RGD:1604985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12178129 KLB klotho beta gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1604985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 12178138 CTRB2 chymotrypsinogen B2 gene DOID:10283 prostate cancer ISO RGD:731605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12178138 CTRB2 chymotrypsinogen B2 gene DOID:2565 macular corneal dystrophy ISO RGD:731605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 12178138 CTRB2 chymotrypsinogen B2 gene DOID:607 paraplegia ISO RGD:731605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12178138 CTRB2 chymotrypsinogen B2 gene DOID:630 genetic disease ISO RGD:731605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178138 CTRB2 chymotrypsinogen B2 gene DOID:9002669 Hypoxia ISO RGD:731605 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 12178149 FIS1 fission, mitochondrial 1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:1315413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 12178149 FIS1 fission, mitochondrial 1 gene DOID:10652 Alzheimer's disease ISO RGD:1315413 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (human) PMID:19605646|REF_RGD_ID:7800727 12178149 FIS1 fission, mitochondrial 1 gene DOID:13711 dental fluorosis ISO RGD:1306668 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (rat) PMID:24958380|REF_RGD_ID:12437081 12178149 FIS1 fission, mitochondrial 1 gene DOID:3021 acute kidney failure ISO RGD:1306668 D RGD:9068941 20200609 RGD protein:decreased expression:kidney (rat) PMID:26480480|REF_RGD_ID:12910862 12178149 FIS1 fission, mitochondrial 1 gene DOID:4483 rhinitis ISO RGD:1306668 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nasal cavity mucosa (rat) PMID:28146064|REF_RGD_ID:13204839 12178149 FIS1 fission, mitochondrial 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12178149 FIS1 fission, mitochondrial 1 gene DOID:5844 myocardial infarction ISO RGD:1306668 D RGD:9068941 20200609 RGD protein:increased expression:plantaris (rat) PMID:24427319|REF_RGD_ID:11557988 12178149 FIS1 fission, mitochondrial 1 gene DOID:630 genetic disease ISO RGD:1315413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178149 FIS1 fission, mitochondrial 1 gene DOID:784 chronic kidney disease treatment ISO RGD:1306668 D RGD:9068941 20200609 RGD PMID:27801955|REF_RGD_ID:12738369 12178149 FIS1 fission, mitochondrial 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1306668 D RGD:9068941 20200609 RGD PMID:26079325|REF_RGD_ID:12437066 12178149 FIS1 fission, mitochondrial 1 gene DOID:9000310 Lung Injury ISO RGD:1306668 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:25560372|REF_RGD_ID:12437080 12178149 FIS1 fission, mitochondrial 1 gene DOID:9001553 Spinal Cord Compression treatment ISO RGD:1306668 D RGD:9068941 20200609 RGD PMID:25595990|REF_RGD_ID:12437079 12178149 FIS1 fission, mitochondrial 1 gene DOID:9005526 Pulmonary Edema of Mountaineers ISO RGD:1306668 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:23517027|REF_RGD_ID:12738217 12178149 FIS1 fission, mitochondrial 1 gene DOID:9007174 Ventricular Remodeling ISO RGD:1315413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20886221 12178149 FIS1 fission, mitochondrial 1 gene DOID:9007588 Heart Injuries ISO RGD:1306668 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart (rat) PMID:25677476|REF_RGD_ID:12437078 12178149 FIS1 fission, mitochondrial 1 gene DOID:9007692 Insulin Resistance ISO RGD:1306668 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:24663492|REF_RGD_ID:12453042 12178149 FIS1 fission, mitochondrial 1 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:1315414 D RGD:9068941 20230429 RGD PMID:30259997|REF_RGD_ID:329337366 12178149 FIS1 fission, mitochondrial 1 gene DOID:9008824 Sarcopenia ISO RGD:1306668 D RGD:9068941 20200609 RGD protein:increased expression:extensor digitorum longus (rat) PMID:23220115|REF_RGD_ID:12738219 12178149 FIS1 fission, mitochondrial 1 gene DOID:9452 fatty liver disease ISO RGD:1306668 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:24663492|REF_RGD_ID:12453042 12178158 SLC16A4 solute carrier family 16 member 4 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1348929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 12178158 SLC16A4 solute carrier family 16 member 4 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1348929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12178158 SLC16A4 solute carrier family 16 member 4 gene DOID:12849 autistic disorder ISO RGD:1348929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12178158 SLC16A4 solute carrier family 16 member 4 gene DOID:630 genetic disease ISO RGD:1348929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178174 ODR4 odr-4 GPCR localization factor homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1346906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12178174 ODR4 odr-4 GPCR localization factor homolog gene DOID:630 genetic disease ISO RGD:1346906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178174 ODR4 odr-4 GPCR localization factor homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12178203 HAUS1 HAUS augmin like complex subunit 1 gene DOID:0060356 Vici syndrome ISO RGD:1346730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 12178203 HAUS1 HAUS augmin like complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:1346730 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12178203 HAUS1 HAUS augmin like complex subunit 1 gene DOID:630 genetic disease ISO RGD:1346730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178203 HAUS1 HAUS augmin like complex subunit 1 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1346730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 12178217 VARS1 valyl-tRNA synthetase 1 gene DOID:0050553 JMP syndrome ISO RGD:735744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12178217 VARS1 valyl-tRNA synthetase 1 gene DOID:1059 intellectual disability ISO RGD:735744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:30275004 12178217 VARS1 valyl-tRNA synthetase 1 gene DOID:10907 microcephaly ISO RGD:735744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:30275004 12178217 VARS1 valyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:735744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11114335 12178217 VARS1 valyl-tRNA synthetase 1 gene DOID:9003507 Premature Birth ISO RGD:735744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature birth PMID:25741868|PMID:30275004 12178217 VARS1 valyl-tRNA synthetase 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:735744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:30275004 12178217 VARS1 valyl-tRNA synthetase 1 gene DOID:9009098 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY ISO RGD:735744 D RGD:7240710 20190315 OMIM 12178217 VARS1 valyl-tRNA synthetase 1 gene DOID:9009098 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY ISO RGD:735744 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy PMID:11114335|PMID:25741868|PMID:26539891|PMID:29221463|PMID:29691655|PMID:30275004|PMID:30755602|PMID:30755616 12178253 ADCY8 adenylate cyclase 8 gene DOID:0060001 withdrawal disorder ISO RGD:733733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16914643 12178253 ADCY8 adenylate cyclase 8 gene DOID:11713 diabetic angiopathy ISO RGD:733733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 12178253 ADCY8 adenylate cyclase 8 gene DOID:3324 mood disorder ISO RGD:733733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19691954 12178253 ADCY8 adenylate cyclase 8 gene DOID:630 genetic disease ISO RGD:733733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178253 ADCY8 adenylate cyclase 8 gene DOID:9002362 Hyperkinesis ISO RGD:733733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16914643 12178280 RUNDC3B RUN domain containing 3B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12178280 RUNDC3B RUN domain containing 3B gene DOID:630 genetic disease ISO RGD:1601714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178298 TMEM150A transmembrane protein 150A gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1605297 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 12178298 TMEM150A transmembrane protein 150A gene DOID:630 genetic disease ISO RGD:1605297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178311 C1QTNF4 C1q and TNF related 4 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1322231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12178311 C1QTNF4 C1q and TNF related 4 gene DOID:1059 intellectual disability ISO RGD:1322231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12178311 C1QTNF4 C1q and TNF related 4 gene DOID:630 genetic disease ISO RGD:1322231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178317 MYB MYB proto-oncogene, transcription factor gene DOID:0050523 adult T-cell leukemia/lymphoma disease_progression ISO RGD:1349179 D RGD:9068941 20200609 RGD mRNA:splice variants:CD4+ T cell: PMID:27307595|REF_RGD_ID:11532670 12178317 MYB MYB proto-oncogene, transcription factor gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1349179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749|PMID:26829750 12178317 MYB MYB proto-oncogene, transcription factor gene DOID:0080630 B-lymphoblastic leukemia/lymphoma disease_progression ISO RGD:1349179 D RGD:9068941 20200609 RGD mRNA:splice variants:cds: PMID:21853052|REF_RGD_ID:11532669 12178317 MYB MYB proto-oncogene, transcription factor gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1349179 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12178317 MYB MYB proto-oncogene, transcription factor gene DOID:2224 essential thrombocythemia ISO RGD:10933 D RGD:9068941 20220825 MouseDO OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521 12178317 MYB MYB proto-oncogene, transcription factor gene DOID:224 transient cerebral ischemia ISO RGD:1560020 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:24828495|REF_RGD_ID:11532683 12178317 MYB MYB proto-oncogene, transcription factor gene DOID:2841 asthma ISO RGD:1349179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198610 12178317 MYB MYB proto-oncogene, transcription factor gene DOID:3070 high grade glioma ISO RGD:1349179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23583981|PMID:26829751 12178317 MYB MYB proto-oncogene, transcription factor gene DOID:4971 myelofibrosis ISO RGD:10933 D RGD:9068941 20220825 MouseDO OMIM:254450 12178317 MYB MYB proto-oncogene, transcription factor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1349179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17435759|PMID:28671688 12178317 MYB MYB proto-oncogene, transcription factor gene DOID:630 genetic disease ISO RGD:1349179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178317 MYB MYB proto-oncogene, transcription factor gene DOID:769 neuroblastoma ISO RGD:1349179 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 12178317 MYB MYB proto-oncogene, transcription factor gene DOID:9000918 Disease Progression ISO RGD:1349179 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 12178317 MYB MYB proto-oncogene, transcription factor gene DOID:9002514 Neointima treatment ISO RGD:1560020 D RGD:9068941 20200609 RGD PMID:10438864|REF_RGD_ID:11532744 12178346 DAPK1 death associated protein kinase 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874806 12178346 DAPK1 death associated protein kinase 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12178346 DAPK1 death associated protein kinase 1 gene DOID:11054 urinary bladder cancer ISO RGD:1323186 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:12124340|REF_RGD_ID:734875 12178346 DAPK1 death associated protein kinase 1 gene DOID:1579 respiratory system disease ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23872714 12178346 DAPK1 death associated protein kinase 1 gene DOID:2661 myoepithelioma ISO RGD:1323186 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12178346 DAPK1 death associated protein kinase 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17133271 12178346 DAPK1 death associated protein kinase 1 gene DOID:299 adenocarcinoma ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15172992 12178346 DAPK1 death associated protein kinase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11313923 12178346 DAPK1 death associated protein kinase 1 gene DOID:4251 conjunctival disease ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23872714 12178346 DAPK1 death associated protein kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17133271 12178346 DAPK1 death associated protein kinase 1 gene DOID:574 peripheral nervous system disease ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23872714 12178346 DAPK1 death associated protein kinase 1 gene DOID:630 genetic disease ISO RGD:1323186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178346 DAPK1 death associated protein kinase 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12178346 DAPK1 death associated protein kinase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17319784 12178346 DAPK1 death associated protein kinase 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12178346 DAPK1 death associated protein kinase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15172992 12178346 DAPK1 death associated protein kinase 1 gene DOID:9005715 Neoplasms, Second Primary ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874806 12178346 DAPK1 death associated protein kinase 1 gene DOID:9007502 Brain Neoplasms ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17319784 12178346 DAPK1 death associated protein kinase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874806 12178412 PTPRS protein tyrosine phosphatase receptor type S gene DOID:0080600 COVID-19 ISO RGD:734357 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12178412 PTPRS protein tyrosine phosphatase receptor type S gene DOID:630 genetic disease ISO RGD:734357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178412 PTPRS protein tyrosine phosphatase receptor type S gene DOID:9004538 Hearing Loss ISO RGD:734357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30872814 12178412 PTPRS protein tyrosine phosphatase receptor type S gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:734357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 12178450 IQCH IQ motif containing H gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12178450 IQCH IQ motif containing H gene DOID:1909 melanoma ISO RGD:1604310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12178450 IQCH IQ motif containing H gene DOID:2717 Bloom syndrome ISO RGD:1604310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12178450 IQCH IQ motif containing H gene DOID:630 genetic disease ISO RGD:1604310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178450 IQCH IQ motif containing H gene DOID:9256 colorectal cancer ISO RGD:1604310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12178491 FMN2 formin 2 gene DOID:0081211 autosomal recessive intellectual developmental disorder 47 ISO RGD:1345437 D RGD:7240710 20180130 OMIM 12178491 FMN2 formin 2 gene DOID:0081211 autosomal recessive intellectual developmental disorder 47 ISO RGD:1345437 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 47 PMID:25741868|PMID:28492532 12178491 FMN2 formin 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1345437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 12178491 FMN2 formin 2 gene DOID:1059 intellectual disability ISO RGD:1345437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12178491 FMN2 formin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1345437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12178491 FMN2 formin 2 gene DOID:4450 renal cell carcinoma ISO RGD:1345437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 12178491 FMN2 formin 2 gene DOID:630 genetic disease ISO RGD:1345437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12178491 FMN2 formin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 12178491 FMN2 formin 2 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1345437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 12178491 FMN2 formin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12178514 L3MBTL4 L3MBTL histone methyl-lysine binding protein 4 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1353313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12178514 L3MBTL4 L3MBTL histone methyl-lysine binding protein 4 gene DOID:1059 intellectual disability ISO RGD:1353313 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12178514 L3MBTL4 L3MBTL histone methyl-lysine binding protein 4 gene DOID:11372 megacolon ISO RGD:1353313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12178514 L3MBTL4 L3MBTL histone methyl-lysine binding protein 4 gene DOID:630 genetic disease ISO RGD:1353313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178543 ALDH6A1 aldehyde dehydrogenase 6 family member A1 gene DOID:0060041 autism spectrum disorder ISO RGD:1344188 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12178543 ALDH6A1 aldehyde dehydrogenase 6 family member A1 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1344188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 12178543 ALDH6A1 aldehyde dehydrogenase 6 family member A1 gene DOID:1059 intellectual disability ISO RGD:1344188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12178543 ALDH6A1 aldehyde dehydrogenase 6 family member A1 gene DOID:630 genetic disease ISO RGD:1344188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12178543 ALDH6A1 aldehyde dehydrogenase 6 family member A1 gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1344188 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:25741868|PMID:28492532 12178543 ALDH6A1 aldehyde dehydrogenase 6 family member A1 gene DOID:9006567 Methylmalonate Semialdehyde Dehydrogenase Deficiency ISO RGD:1344188 D RGD:7240710 20180130 OMIM 12178543 ALDH6A1 aldehyde dehydrogenase 6 family member A1 gene DOID:9006567 Methylmalonate Semialdehyde Dehydrogenase Deficiency ISO RGD:1344188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonate semialdehyde dehydrogenase deficiency PMID:10947204|PMID:11446412|PMID:21863277|PMID:23835272|PMID:25741868|PMID:28492532|PMID:3117077|PMID:32151545|PMID:3939535 12178543 ALDH6A1 aldehyde dehydrogenase 6 family member A1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1344188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12178543 ALDH6A1 aldehyde dehydrogenase 6 family member A1 gene DOID:9252 amino acid metabolic disorder ISO RGD:1344188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10947204 12178543 ALDH6A1 aldehyde dehydrogenase 6 family member A1 gene DOID:9970 obesity ISO RGD:1344188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12178559 ITGA3 integrin subunit alpha 3 gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:1321177 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:23949819|PMID:25944380|PMID:26478226|PMID:28492532|PMID:7942841|PMID:9295084|PMID:9443882 12178559 ITGA3 integrin subunit alpha 3 gene DOID:11162 respiratory failure ISO RGD:1321177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Respiratory failure PMID:25741868 12178559 ITGA3 integrin subunit alpha 3 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:1321177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bronchopulmonary dysplasia PMID:25741868 12178559 ITGA3 integrin subunit alpha 3 gene DOID:1184 nephrotic syndrome ISO RGD:1321177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:22512483|PMID:29127259 12178559 ITGA3 integrin subunit alpha 3 gene DOID:2355 anemia ISO RGD:1321177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868 12178559 ITGA3 integrin subunit alpha 3 gene DOID:2712 phimosis ISO RGD:1321177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phimosis PMID:25741868 12178559 ITGA3 integrin subunit alpha 3 gene DOID:2921 glomerulonephritis ISO RGD:1310333 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus (rat) PMID:19662603|REF_RGD_ID:2325666 12178559 ITGA3 integrin subunit alpha 3 gene DOID:5844 myocardial infarction ISO RGD:1310333 D RGD:9068941 20200609 RGD protein:increased expression:myocardium (rat) PMID:19041328|REF_RGD_ID:2325287 12178559 ITGA3 integrin subunit alpha 3 gene DOID:630 genetic disease ISO RGD:1321177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12178559 ITGA3 integrin subunit alpha 3 gene DOID:8534 gastroesophageal reflux disease ISO RGD:1321177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux PMID:25741868 12178559 ITGA3 integrin subunit alpha 3 gene DOID:9002211 Hyperalgesia ISO RGD:1310333 D RGD:9068941 20200609 RGD PMID:14984413|REF_RGD_ID:2302389 12178559 ITGA3 integrin subunit alpha 3 gene DOID:9002211 Hyperalgesia ISO RGD:1310333 D RGD:9068941 20200609 RGD knock-down using a specific monoclonal antibody or RNAi PMID:15836982|REF_RGD_ID:2302139 12178559 ITGA3 integrin subunit alpha 3 gene DOID:9003936 Cardiomegaly ISO RGD:1310333 D RGD:9068941 20200609 RGD protein:increased expression:cardiac myocyte (rat) PMID:1835909|REF_RGD_ID:2325829 12178559 ITGA3 integrin subunit alpha 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1310333 D RGD:9068941 20200609 RGD protein:decreased expression:renal cortex (rat) PMID:20525748|REF_RGD_ID:2325818 12178559 ITGA3 integrin subunit alpha 3 gene DOID:9006333 Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome ISO RGD:1321177 D RGD:7240710 20180130 OMIM 12178559 ITGA3 integrin subunit alpha 3 gene DOID:9006333 Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome ISO RGD:1321177 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 7, WITH INTERSTITIAL LUNG DISEASE AND NEPHROTIC SYNDROME | ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital PMID:22512483|PMID:24088041|PMID:25741868|PMID:25810266|PMID:26633545|PMID:28492532|PMID:29127259 12178559 ITGA3 integrin subunit alpha 3 gene DOID:9007356 Eczema ISO RGD:1321177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Eczema PMID:25741868 12178559 ITGA3 integrin subunit alpha 3 gene DOID:9007764 Penoscrotal Transposition ISO RGD:1321177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital transposition of the penis PMID:25741868 12178594 SRP19 signal recognition particle 19 gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:1318204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 12178594 SRP19 signal recognition particle 19 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:11257105|PMID:12136240|PMID:14672538|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12178594 SRP19 signal recognition particle 19 gene DOID:630 genetic disease ISO RGD:1318204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178594 SRP19 signal recognition particle 19 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12178594 SRP19 signal recognition particle 19 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12178603 VPS4B vacuolar protein sorting 4 homolog B gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1314314 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12178603 VPS4B vacuolar protein sorting 4 homolog B gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1314314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 12178603 VPS4B vacuolar protein sorting 4 homolog B gene DOID:630 genetic disease ISO RGD:1314314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178622 GSDMA gasdermin A gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1347779 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 12178622 GSDMA gasdermin A gene DOID:630 genetic disease ISO RGD:1347779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178638 PHC1 polyhomeotic homolog 1 gene DOID:0070287 primary autosomal recessive microcephaly 11 ISO RGD:1319414 D RGD:7240710 20180130 OMIM 12178638 PHC1 polyhomeotic homolog 1 gene DOID:0070287 primary autosomal recessive microcephaly 11 ISO RGD:1319414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 11, primary, autosomal recessive PMID:23418308|PMID:25558065|PMID:25741868 12178638 PHC1 polyhomeotic homolog 1 gene DOID:1059 intellectual disability ISO RGD:1319414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23418308|PMID:25558065 12178638 PHC1 polyhomeotic homolog 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319415 D RGD:9068941 20220825 MouseDO 12178638 PHC1 polyhomeotic homolog 1 gene DOID:630 genetic disease ISO RGD:1319414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178638 PHC1 polyhomeotic homolog 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1319415 D RGD:9068941 20220825 MouseDO OMIM:187500 12178638 PHC1 polyhomeotic homolog 1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1319414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 12178638 PHC1 polyhomeotic homolog 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1319414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12178683 KIAA2026 KIAA2026 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1323134 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12178683 KIAA2026 KIAA2026 gene DOID:630 genetic disease ISO RGD:1323134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178696 NKAIN1 sodium/potassium transporting ATPase interacting 1 gene DOID:630 genetic disease ISO RGD:1606507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178707 TCEAL7 transcription elongation factor A like 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12178707 TCEAL7 transcription elongation factor A like 7 gene DOID:12849 autistic disorder ISO RGD:1347340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12178707 TCEAL7 transcription elongation factor A like 7 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1347340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:31690835 12178707 TCEAL7 transcription elongation factor A like 7 gene DOID:630 genetic disease ISO RGD:1347340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178707 TCEAL7 transcription elongation factor A like 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 12178719 ARHGAP40 Rho GTPase activating protein 40 gene DOID:2234 focal epilepsy ISO RGD:1343259 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12178719 ARHGAP40 Rho GTPase activating protein 40 gene DOID:630 genetic disease ISO RGD:1343259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178739 C12H6orf132 chromosome 12 C6orf132 homolog gene DOID:0050444 infantile Refsum disease ISO RGD:1354360 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12178739 C12H6orf132 chromosome 12 C6orf132 homolog gene DOID:630 genetic disease ISO RGD:1354360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178739 C12H6orf132 chromosome 12 C6orf132 homolog gene DOID:905 Zellweger syndrome ISO RGD:1354360 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12178746 EPHX3 epoxide hydrolase 3 gene DOID:1909 melanoma ISO RGD:1316262 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 12178746 EPHX3 epoxide hydrolase 3 gene DOID:630 genetic disease ISO RGD:1316262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178746 EPHX3 epoxide hydrolase 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1316262 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12178760 LTN1 listerin E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1322590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178760 LTN1 listerin E3 ubiquitin protein ligase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12178797 SOWAHA sosondowah ankyrin repeat domain family member A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602435 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12178797 SOWAHA sosondowah ankyrin repeat domain family member A gene DOID:630 genetic disease ISO RGD:1602435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178797 SOWAHA sosondowah ankyrin repeat domain family member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12178797 SOWAHA sosondowah ankyrin repeat domain family member A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602435 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12178805 MIR200B microRNA 200b gene DOID:684 hepatocellular carcinoma ISO RGD:1343713 D RGD:9068941 20200609 RGD PMID:26919246|REF_RGD_ID:14928318 12178805 MIR200B microRNA mir-200b gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1343713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12178805 MIR200B microRNA mir-200b gene DOID:0060071 pre-malignant neoplasm ISO RGD:1343713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12178805 MIR200B microRNA mir-200b gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1343713 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12178805 MIR200B microRNA mir-200b gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1343713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12178805 MIR200B microRNA mir-200b gene DOID:0060643 primary sclerosing cholangitis ISO RGD:1343713 D RGD:9068941 20200609 RGD RNA:increased expression:liver PMID:28634212|REF_RGD_ID:14928323 12178805 MIR200B microRNA mir-200b gene DOID:0060643 primary sclerosing cholangitis treatment ISO RGD:1607645 D RGD:9068941 20200609 RGD PMID:28634212|REF_RGD_ID:14928323 12178805 MIR200B microRNA mir-200b gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:1607645 D RGD:9068941 20200609 RGD induced by nutritional deficiency. PMID:20548288|PMID:22561871|REF_RGD_ID:14928332|REF_RGD_ID:14974031 12178805 MIR200B microRNA mir-200b gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1343713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12178805 MIR200B microRNA mir-200b gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1343713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12178805 MIR200B microRNA mir-200b gene DOID:0110994 Joubert syndrome 25 ISO RGD:1343713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12178805 MIR200B microRNA mir-200b gene DOID:0111934 immunodeficiency 38 ISO RGD:1343713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12178805 MIR200B microRNA mir-200b gene DOID:0111935 immunodeficiency 16 ISO RGD:1343713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12178805 MIR200B microRNA mir-200b gene DOID:219 colon cancer ISO RGD:1343713 D RGD:9068941 20220825 RGD human cells in mouse model;RNA:increased expression:colon,exosome (human) PMID:28211508|REF_RGD_ID:153344546 12178805 MIR200B microRNA mir-200b gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:1343713 D RGD:9068941 20200609 RGD RNA:increased expression:liver PMID:27685844|REF_RGD_ID:14928335 12178805 MIR200B microRNA mir-200b gene DOID:4989 pancreatitis ISO RGD:1343713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12178805 MIR200B microRNA mir-200b gene DOID:5082 liver cirrhosis treatment ISO RGD:1607645 D RGD:9068941 20200609 RGD associated with primary sclerosing cholangitis; PMID:28634212|REF_RGD_ID:14928323 12178805 MIR200B microRNA mir-200b gene DOID:684 hepatocellular carcinoma ISO RGD:1343713 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:28383782|REF_RGD_ID:14928322 12178805 MIR200B microRNA mir-200b gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1343713 D RGD:9068941 20200609 RGD PMID:28383782|REF_RGD_ID:14928322 12178805 MIR200B microRNA mir-200b gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1343713 D RGD:9068941 20200609 RGD PMID:26919246|PMID:28383782|REF_RGD_ID:14928318|REF_RGD_ID:14928322 12178805 MIR200B microRNA mir-200b gene DOID:7474 malignant pleural mesothelioma ISO RGD:1343713 D RGD:9068941 20220901 RGD miRNA:decreased expression:pleura (human) PMID:26125439|REF_RGD_ID:11529530 12178805 MIR200B microRNA mir-200b gene DOID:9000918 Disease Progression ISO RGD:1343713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19839049 12178805 MIR200B microRNA mir-200b gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1343713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12178805 MIR200B microRNA mir-200b gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12178805 MIR200B microRNA mir-200b gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1343713 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19839049 12178805 MIR200B microRNA mir-200b gene DOID:9006618 Liver Metastasis ISO RGD:1343713 D RGD:9068941 20200609 RGD associated with colorectal cancer;RNA:increased expression:liver: PMID:28617555|REF_RGD_ID:14928321 12178805 MIR200B microRNA mir-200b gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1343713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12178805 MIR200B microRNA mir-200b gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1343713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21292642 12178805 MIR200B microRNA mir-200b gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1343713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12178805 MIR200B microRNA mir-200b gene DOID:9008939 Breast Neoplasms ISO RGD:1343713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19839049|PMID:20099276 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lennox-Gastaut syndrome PMID:25741868|PMID:28492532 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0050562 West syndrome ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant | ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: Infantile spasms | ClinVar Annotator: match by term: West syndrome PMID:18414213|PMID:19786696|PMID:20956790|PMID:23550958|PMID:23708187|PMID:23934111|PMID:23935176|PMID:25326635|PMID:25326637|PMID:25459969|PMID:25741868|PMID:25772804|PMID:26283219|PMID:26291284|PMID:26467025|PMID:26645390|PMID:26648591|PMID:26993267|PMID:27159988|PMID:27334371|PMID:27867041|PMID:28065826|PMID:28256214|PMID:28379373|PMID:28492532|PMID:28628100|PMID:28708303|PMID:28947817|PMID:29186148|PMID:29655203|PMID:29844171|PMID:30185235|PMID:30361185|PMID:30776697|PMID:30813884|PMID:30928199|PMID:31054490|PMID:31175295|PMID:31558572|PMID:31995133|PMID:32090326|PMID:32139178|PMID:32400968|PMID:32488064|PMID:32613771|PMID:32651551|PMID:32860008|PMID:33084218|PMID:33818783|PMID:34469436 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354096 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15048894|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479388|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20371507|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:23935176|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25995458|PMID:26068938|PMID:26993267|PMID:27491411|PMID:27779742|PMID:27781031|PMID:28379373|PMID:28492532|PMID:29068549|PMID:29100083|PMID:29655203|PMID:30619928|PMID:34782754 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15048894|PMID:15133511|PMID:16865694|PMID:17021166|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479388|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20371507|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:23935176|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25995458|PMID:26068938|PMID:26993267|PMID:27491411|PMID:27779742|PMID:27781031|PMID:28379373|PMID:28492532|PMID:28709814|PMID:29068549|PMID:29100083|PMID:29655203|PMID:30381472|PMID:30619928|PMID:31054490|PMID:31302675|PMID:31904120|PMID:32400968|PMID:34782754|PMID:35431799 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0050889 non-syndromic intellectual disability ISO RGD:1354096 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Non-syndromic intellectual disability PMID:25741868 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0050952 spastic ataxia ISO RGD:1354096 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1354096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:26350204|PMID:28379373|PMID:28492532 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0060169 benign familial infantile epilepsy ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign familial infantile epilepsy | ClinVar Annotator: match by term: Benign infantile familial convulsions PMID:11326335|PMID:15048894|PMID:17021166|PMID:18479388|PMID:23360469|PMID:25741868|PMID:27781031|PMID:28379373|PMID:28492532|PMID:29215089 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Infantile spasm PMID:18414213|PMID:20956790|PMID:23550958|PMID:25741868|PMID:26283219|PMID:26467025|PMID:26645390|PMID:27159988|PMID:27334371|PMID:28065826|PMID:28379373|PMID:28492532|PMID:30361185|PMID:30928199|PMID:31054490|PMID:31175295|PMID:32090326|PMID:32139178|PMID:32488064|PMID:32651551|PMID:32860008|PMID:33084218 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:25741868|PMID:28492532 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:1354096 D RGD:7240710 20180130 OMIM 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 | ClinVar Annotator: match by term: Epilepsy of infancy with migrating focal seizures | ClinVar Annotator: match by term: SCN2A-related disorder | ClinVar Annotator: match by term: SCN2A-related generalized epilepsy with febrile seizures plus PMID:11326335|PMID:11738931|PMID:12037327|PMID:15028761|PMID:15048894|PMID:15133511|PMID:16199547|PMID:16865694|PMID:17021166|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18414213|PMID:18479388|PMID:18930999|PMID:19304393|PMID:19400878|PMID:19786696|PMID:20358599|PMID:20371507|PMID:20522430|PMID:20956790|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21439835|PMID:21692795|PMID:21719429|PMID:22029951|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23360469|PMID:23550958|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23934111|PMID:23935176|PMID:24579881|PMID:24650168|PMID:24876116|PMID:25131622|PMID:25326635|PMID:25326637|PMID:25459969|PMID:25492405|PMID:25533962|PMID:25741868|PMID:25772804|PMID:25937001|PMID:26068938|PMID:26283219|PMID:26291284|PMID:26467025|PMID:26645390|PMID:26648591|PMID:26680202|PMID:26689363|PMID:26993267|PMID:27159988|PMID:27328862|PMID:27334371|PMID:27353043|PMID:27491411|PMID:27779742|PMID:27781031|PMID:27824329|PMID:27867041|PMID:28065826|PMID:28087622|PMID:28096396|PMID:28135719|PMID:28183995|PMID:28256214|PMID:28379373|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28708303|PMID:28709814|PMID:28947817|PMID:29068549|PMID:29100083|PMID:29186148|PMID:29215089|PMID:29358611|PMID:29389947|PMID:29635106|PMID:29655203|PMID:29691040|PMID:29720203|PMID:29844171|PMID:29852413|PMID:30109124|PMID:30165711|PMID:30361185|PMID:30381472|PMID:30415926|PMID:30552426|PMID:30564305|PMID:30619928|PMID:30813884|PMID:30928199|PMID:31054490|PMID:31175295|PMID:31302675|PMID:31487502|PMID:31558572|PMID:31904120|PMID:31924505|PMID:32090326|PMID:32139178|PMID:32400968|PMID:32488064|PMID:32651551|PMID:32750235|PMID:32860008|PMID:32893078|PMID:33084218|PMID:33278787|PMID:33818783|PMID:34055682|PMID:34156984|PMID:34469436|PMID:34782754|PMID:34894057|PMID:35431799|PMID:9536098 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0080422 Dravet syndrome ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant migrating partial seizures of infancy PMID:25741868 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:23935176|PMID:25741868|PMID:26648591|PMID:26993267|PMID:27867041|PMID:28379373|PMID:28492532|PMID:32400968 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy PMID:25741868|PMID:28492532 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:1354096 D RGD:7240710 20180130 OMIM 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3 | ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:11326335|PMID:11371648|PMID:11738931|PMID:12243921|PMID:12610651|PMID:15048894|PMID:15133511|PMID:15301839|PMID:15316014|PMID:16122630|PMID:16199547|PMID:16865694|PMID:16884893|PMID:17021166|PMID:17347258|PMID:17386050|PMID:17467289|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18379388|PMID:18414213|PMID:18479388|PMID:18930999|PMID:19304393|PMID:19400878|PMID:19702560|PMID:19783390|PMID:19786696|PMID:20358599|PMID:20371507|PMID:20522430|PMID:20869590|PMID:20956790|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:21893419|PMID:22029951|PMID:22495306|PMID:22581653|PMID:22591750|PMID:22677033|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23195492|PMID:23360469|PMID:23550958|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23758435|PMID:23849776|PMID:23934111|PMID:23935176|PMID:24579881|PMID:24650168|PMID:24659627|PMID:24848745|PMID:24876116|PMID:25131622|PMID:25156649|PMID:25232683|PMID:25326635|PMID:25326637|PMID:25459969|PMID:25473036|PMID:25492405|PMID:25533962|PMID:25640679|PMID:25741868|PMID:25772804|PMID:25818041|PMID:25849321|PMID:25937001|PMID:25969726|PMID:25982755|PMID:26068938|PMID:26283219|PMID:26291284|PMID:2635020|PMID:26350204|PMID:26467025|PMID:26555645|PMID:26633542|PMID:26637798|PMID:26645390|PMID:26648591|PMID:26993267|PMID:27153334|PMID:27159988|PMID:27290639|PMID:27328862|PMID:27334371|PMID:27353043|PMID:27491411|PMID:27652284|PMID:27734276|PMID:27779742|PMID:27781028|PMID:27781031|PMID:27824329|PMID:27864847|PMID:27867041|PMID:28065826|PMID:28087622|PMID:28133863|PMID:28135719|PMID:28166811|PMID:28191889|PMID:28254201|PMID:28256214|PMID:28263302|PMID:28379373|PMID:28492532|PMID:28518218|PMID:28554332|PMID:28628100|PMID:28708303|PMID:28709814|PMID:28735751|PMID:28817111|PMID:28837158|PMID:28867142|PMID:28947817|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29186148|PMID:29215089|PMID:29314583|PMID:29358611|PMID:29429461|PMID:29625812|PMID:29635106|PMID:29655203|PMID:29691040|PMID:29720203|PMID:29760947|PMID:29844171|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30185235|PMID:30314295|PMID:30361185|PMID:30381472|PMID:30415926|PMID:30564305|PMID:30619928|PMID:30776697|PMID:30859550|PMID:30928199|PMID:31054490|PMID:31144778|PMID:31175295|PMID:31302675|PMID:31487502|PMID:31526516|PMID:31558572|PMID:31904120|PMID:31995133|PMID:32090326|PMID:32139178|PMID:32400968|PMID:32488064|PMID:32603808|PMID:32613771|PMID:32651551|PMID:32695065|PMID:32725632|PMID:32750235|PMID:32860008|PMID:33000761|PMID:33004838|PMID:33084218|PMID:33240318|PMID:33278787|PMID:33394222|PMID:33779092|PMID:33818783|PMID:34015165|PMID:34055682|PMID:34469436|PMID:34782754|PMID:34894057|PMID:3508699|PMID:35431799|PMID:6660252|PMID:9536098 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0090056 dystonia 12 ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 12 PMID:25741868 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0111112 nephronophthisis 1 ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0111295 generalized epilepsy with febrile seizures plus 7 ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:15048894|PMID:15133511|PMID:16865694|PMID:17021166|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479388|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20371507|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:23935176|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25995458|PMID:26068938|PMID:26993267|PMID:27491411|PMID:27779742|PMID:27781031|PMID:28379373|PMID:28492532|PMID:28709814|PMID:29068549|PMID:29100083|PMID:29655203|PMID:30381472|PMID:30619928|PMID:31054490|PMID:31302675|PMID:31904120|PMID:32400968|PMID:34782754|PMID:35431799 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:1059 intellectual disability ISO RGD:1354096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:25741868|PMID:26993267|PMID:28379373|PMID:28492532 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:10969 hemiplegia ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemiplegia/hemiparesis PMID:25741868 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:12712 nephronophthisis ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:12849 autistic disorder ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:14264 benign neonatal seizures ISO RGD:1354096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Benign Neonatal Epilepsy PMID:20371507|PMID:25741868|PMID:27779742|PMID:28379373|PMID:28492532|PMID:29100083|PMID:30619928|PMID:31904120|PMID:35431799 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign familial neonatal-infantile seizures | ClinVar Annotator: match by term: Benign infantile familial convulsions PMID:15048894|PMID:18479388|PMID:23935176|PMID:25741868|PMID:27781031|PMID:28379373|PMID:28492532|PMID:29215089|PMID:6660252 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial neonatal seizures PMID:15048894|PMID:15133511|PMID:16865694|PMID:17021166|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18414213|PMID:18479388|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20371507|PMID:20522430|PMID:20956790|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23550958|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23935176|PMID:24579881|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26068938|PMID:26283219|PMID:26291284|PMID:26467025|PMID:26645390|PMID:26993267|PMID:27159988|PMID:27334371|PMID:27491411|PMID:27779742|PMID:27781031|PMID:28065826|PMID:28379373|PMID:28492532|PMID:28709814|PMID:29068549|PMID:29100083|PMID:29358611|PMID:29655203|PMID:30361185|PMID:30381472|PMID:30415926|PMID:30619928|PMID:30928199|PMID:31054490|PMID:31175295|PMID:31302675|PMID:31904120|PMID:32090326|PMID:32139178|PMID:32400968|PMID:32488064|PMID:32651551|PMID:32860008|PMID:33084218|PMID:34782754|PMID:35431799 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:1826 epilepsy ISO RGD:1354096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:11326335|PMID:15048894|PMID:17021166|PMID:18414213|PMID:23360469|PMID:23708187|PMID:25326635|PMID:25741868|PMID:26291284|PMID:26645390|PMID:26993267|PMID:27781031|PMID:28379373|PMID:28492532|PMID:29215089|PMID:29844171|PMID:30859550|PMID:31558572|PMID:33818783 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:2234 focal epilepsy ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:25741868 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:3312 bipolar disorder ISO RGD:1354096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1354096 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:630 genetic disease ISO RGD:1354096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11371648|PMID:11738931|PMID:12037327|PMID:12620097|PMID:15048894|PMID:15301839|PMID:16122630|PMID:17576681|PMID:18414213|PMID:19702560|PMID:19783390|PMID:19786696|PMID:20869590|PMID:20956790|PMID:21439835|PMID:22029951|PMID:22495306|PMID:22581653|PMID:22591750|PMID:23020937|PMID:23195492|PMID:23603762|PMID:23708187|PMID:23849776|PMID:23935176|PMID:24579881|PMID:24650168|PMID:25131622|PMID:25156649|PMID:25326637|PMID:25473036|PMID:25741868|PMID:25818041|PMID:25937001|PMID:26291284|PMID:26467025|PMID:26555645|PMID:26645390|PMID:26680202|PMID:26689363|PMID:26993267|PMID:27328862|PMID:27353043|PMID:27824329|PMID:28087622|PMID:28096396|PMID:28183995|PMID:28191889|PMID:28256214|PMID:28263302|PMID:28379373|PMID:28492532|PMID:28518218|PMID:28735751|PMID:28947817|PMID:29100083|PMID:29691040|PMID:29852413|PMID:30415926|PMID:30564305|PMID:30619928|PMID:31054490|PMID:31302675|PMID:32090326|PMID:32400968|PMID:33004838|PMID:34156984|PMID:34469436|PMID:9536098 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1354096 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1354096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:18414213|PMID:20956790|PMID:23550958|PMID:23708187|PMID:25326635|PMID:25741868|PMID:26283219|PMID:26291284|PMID:26467025|PMID:26645390|PMID:26993267|PMID:27159988|PMID:27334371|PMID:27864847|PMID:28065826|PMID:28379373|PMID:28492532|PMID:29844171|PMID:30361185|PMID:30928199|PMID:31054490|PMID:31175295|PMID:31558572|PMID:32090326|PMID:32139178|PMID:32488064|PMID:32651551|PMID:32860008|PMID:33084218|PMID:33818783 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:9001870 Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteoporosis, childhood- or juvenile-onset, with developmental delay PMID:25741868 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1354096 D RGD:7240710 20200722 OMIM 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1354096 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Episodic ataxia, type 9 PMID:11326335|PMID:11371648|PMID:12243921|PMID:12620097|PMID:15028761|PMID:15048894|PMID:15301839|PMID:16199547|PMID:17021166|PMID:17467289|PMID:18379388|PMID:18414213|PMID:18479388|PMID:19783390|PMID:19786696|PMID:20371507|PMID:20869590|PMID:20956790|PMID:22677033|PMID:23360469|PMID:23550958|PMID:23708187|PMID:23758435|PMID:23849776|PMID:23934111|PMID:23935176|PMID:25326635|PMID:25326637|PMID:25459969|PMID:25533962|PMID:25741868|PMID:25772804|PMID:25818041|PMID:25849321|PMID:25937001|PMID:26283219|PMID:26291284|PMID:26467025|PMID:26645390|PMID:26648591|PMID:26993267|PMID:27159988|PMID:27328862|PMID:27334371|PMID:27779742|PMID:27781031|PMID:27824329|PMID:27867041|PMID:28065826|PMID:28135719|PMID:28256214|PMID:28263302|PMID:28379373|PMID:28492532|PMID:28628100|PMID:28708303|PMID:28947817|PMID:29100083|PMID:29186148|PMID:29215089|PMID:29358611|PMID:29655203|PMID:29691040|PMID:29844171|PMID:29852413|PMID:30144217|PMID:30165711|PMID:30185235|PMID:30361185|PMID:30552426|PMID:30564305|PMID:30619928|PMID:30776697|PMID:30813884|PMID:30859550|PMID:30928199|PMID:31054490|PMID:31175295|PMID:31302675|PMID:31558572|PMID:31904120|PMID:31924505|PMID:31995133|PMID:32090326|PMID:32139178|PMID:32400968|PMID:32488064|PMID:32613771|PMID:32651551|PMID:32750235|PMID:32860008|PMID:32893078|PMID:33084218|PMID:33818783|PMID:34055682|PMID:34469436|PMID:3508699|PMID:35431799 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:9007722 Myoclonus ISO RGD:1354096 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Myoclonus 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:9007956 Febrile Seizures ISO RGD:1354096 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Febrile seizures | ClinVar Annotator: match by term: febrile convulsion PMID:25741868|PMID:28492532 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1354096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28492532|PMID:32581362 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:9008582 Developmental Disease ISO RGD:1354096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28379373|PMID:28492532|PMID:29655203|PMID:29852413|PMID:30564305 12178861 SCN2A sodium voltage-gated channel alpha subunit 2 gene DOID:963 episodic ataxia ISO RGD:1354096 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary episodic ataxia PMID:12037327|PMID:20956790|PMID:25326637|PMID:26993267|PMID:27353043 12178898 NCKAP1 NCK associated protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12178898 NCKAP1 NCK associated protein 1 gene DOID:1059 intellectual disability ISO RGD:732467 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual disability 12178898 NCKAP1 NCK associated protein 1 gene DOID:12849 autistic disorder ISO RGD:732467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868 12178898 NCKAP1 NCK associated protein 1 gene DOID:630 genetic disease ISO RGD:732467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178898 NCKAP1 NCK associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732467 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: NCKAP1-Related Disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33157009 12178898 NCKAP1 NCK associated protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:732467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741875 12178935 GFER growth factor, augmenter of liver regeneration gene DOID:0050855 renal fibrosis treatment ISO RGD:736290 D RGD:9068941 20200609 RGD associated with ureteral obstruction PMID:24844766|REF_RGD_ID:13506791 12178935 GFER growth factor, augmenter of liver regeneration gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 12178935 GFER growth factor, augmenter of liver regeneration gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12178935 GFER growth factor, augmenter of liver regeneration gene DOID:1074 kidney failure treatment ISO RGD:736290 D RGD:9068941 20200609 RGD associated with liver transplant; PMID:18929838|REF_RGD_ID:9685774 12178935 GFER growth factor, augmenter of liver regeneration gene DOID:11383 cryptorchidism ISO RGD:61845 D RGD:9068941 20200609 RGD protein:decreased expression:male germ cell: PMID:17918708|REF_RGD_ID:9685739 12178935 GFER growth factor, augmenter of liver regeneration gene DOID:1826 epilepsy ISO RGD:736290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12178935 GFER growth factor, augmenter of liver regeneration gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12178935 GFER growth factor, augmenter of liver regeneration gene DOID:3021 acute kidney failure ISO RGD:61845 D RGD:9068941 20200609 RGD protein:increased expression:cortex of kidney,renal medulla: PMID:20030531|REF_RGD_ID:9685736 12178935 GFER growth factor, augmenter of liver regeneration gene DOID:3021 acute kidney failure ISO RGD:736290 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20030531 12178935 GFER growth factor, augmenter of liver regeneration gene DOID:3021 acute kidney failure treatment ISO RGD:61845 D RGD:9068941 20200609 RGD PMID:20030531|REF_RGD_ID:9685736 12178935 GFER growth factor, augmenter of liver regeneration gene DOID:5199 ureteral obstruction ISO RGD:61845 D RGD:9068941 20200609 RGD PMID:24844766|REF_RGD_ID:13506791 12178935 GFER growth factor, augmenter of liver regeneration gene DOID:630 genetic disease ISO RGD:736290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19409522|PMID:20593814|PMID:25269795|PMID:25326635|PMID:25741868|PMID:26018198|PMID:26944241|PMID:28155230|PMID:28492532|PMID:8627443 12178935 GFER growth factor, augmenter of liver regeneration gene DOID:700 mitochondrial metabolism disease ISO RGD:736290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25741868|PMID:28812649 12178935 GFER growth factor, augmenter of liver regeneration gene DOID:9000238 Acute-On-Chronic Liver Failure disease_progression ISO RGD:736290 D RGD:9068941 20200609 RGD PMID:22246190|REF_RGD_ID:9685741 12178935 GFER growth factor, augmenter of liver regeneration gene DOID:9001708 Hemorrhagic Shock ISO RGD:62137 D RGD:9068941 20200609 RGD PMID:23073658|REF_RGD_ID:9685733 12178935 GFER growth factor, augmenter of liver regeneration gene DOID:9004283 Transplant Rejection ISO RGD:61845 D RGD:9068941 20200609 RGD PMID:22819311|REF_RGD_ID:9685732 12178935 GFER growth factor, augmenter of liver regeneration gene DOID:9004484 Sepsis ISO RGD:61845 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:23073658|REF_RGD_ID:9685733 12178935 GFER growth factor, augmenter of liver regeneration gene DOID:9004590 Acute Liver Failure ISO RGD:736290 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15968720 12178935 GFER growth factor, augmenter of liver regeneration gene DOID:9004590 Acute Liver Failure treatment ISO RGD:736290 D RGD:9068941 20200609 RGD PMID:23337881|REF_RGD_ID:9685775 12178935 GFER growth factor, augmenter of liver regeneration gene DOID:9004786 Carbon Tetrachloride Poisoning ISO RGD:736290 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15968720 12178935 GFER growth factor, augmenter of liver regeneration gene DOID:9005930 Endotoxemia ISO RGD:61845 D RGD:9068941 20200609 RGD PMID:23073658|REF_RGD_ID:9685733 12178935 GFER growth factor, augmenter of liver regeneration gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:61845 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:20332418|REF_RGD_ID:9685723 12178935 GFER growth factor, augmenter of liver regeneration gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:736290 D RGD:9068941 20200609 RGD PMID:20332418|REF_RGD_ID:9685723 12178935 GFER growth factor, augmenter of liver regeneration gene DOID:9007052 Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay ISO RGD:736290 D RGD:7240710 20180130 OMIM 12178935 GFER growth factor, augmenter of liver regeneration gene DOID:9007052 Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay ISO RGD:736290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED | ClinVar Annotator: match by term: Myopathy with cataract and combined respiratory-chain deficiency | ClinVar Annotator: match by term: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay PMID:16199547|PMID:18414213|PMID:19409522|PMID:20593814|PMID:25269795|PMID:25326635|PMID:25741868|PMID:26018198|PMID:26757139|PMID:26944241|PMID:28155230|PMID:28492532|PMID:28812649|PMID:28939701|PMID:8627443 12178935 GFER growth factor, augmenter of liver regeneration gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:61845 D RGD:9068941 20200609 RGD PMID:15968720|REF_RGD_ID:9685727 12178935 GFER growth factor, augmenter of liver regeneration gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:736290 D RGD:9068941 20200609 RGD PMID:22033404|REF_RGD_ID:9685722 12178935 GFER growth factor, augmenter of liver regeneration gene DOID:9008691 Liver Injury ISO RGD:61845 D RGD:9068941 20200609 RGD PMID:24880092|REF_RGD_ID:9685725 12178942 IPPK inositol-pentakisphosphate 2-kinase gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1322638 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 12178942 IPPK inositol-pentakisphosphate 2-kinase gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1322638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 12178942 IPPK inositol-pentakisphosphate 2-kinase gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1322638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 12178942 IPPK inositol-pentakisphosphate 2-kinase gene DOID:630 genetic disease ISO RGD:1322638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178959 BAP1 BRCA1 associated protein 1 gene DOID:0050773 paraganglioma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 12178959 BAP1 BRCA1 associated protein 1 gene DOID:0050902 medulloblastoma ISO RGD:1323652 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:24970262|PMID:25741868|PMID:26719535|PMID:28492532|PMID:29641532|PMID:32068069 12178959 BAP1 BRCA1 associated protein 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1323653 D RGD:9068941 20220825 MouseDO OMIM:614286 12178959 BAP1 BRCA1 associated protein 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1323652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma PMID:21642991|PMID:24894717|PMID:26166446|PMID:26452128 12178959 BAP1 BRCA1 associated protein 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1323652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12178959 BAP1 BRCA1 associated protein 1 gene DOID:11054 urinary bladder cancer ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 12178959 BAP1 BRCA1 associated protein 1 gene DOID:1240 leukemia ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 12178959 BAP1 BRCA1 associated protein 1 gene DOID:169 neuroendocrine tumor ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 12178959 BAP1 BRCA1 associated protein 1 gene DOID:1790 malignant mesothelioma ISO RGD:1323652 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:24928783|PMID:25231345|PMID:26463840|PMID:26928227|PMID:29112861 12178959 BAP1 BRCA1 associated protein 1 gene DOID:1790 malignant mesothelioma ISO RGD:1323653 D RGD:9068941 20200609 RGD PMID:24928783|REF_RGD_ID:9586039 12178959 BAP1 BRCA1 associated protein 1 gene DOID:1793 pancreatic cancer ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 12178959 BAP1 BRCA1 associated protein 1 gene DOID:2513 basal cell carcinoma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26719535 12178959 BAP1 BRCA1 associated protein 1 gene DOID:2513 basal cell carcinoma ISO RGD:1323652 D RGD:9068941 20200609 RGD PMID:25080371|REF_RGD_ID:9586038 12178959 BAP1 BRCA1 associated protein 1 gene DOID:3070 high grade glioma ISO RGD:1323652 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:25741868 12178959 BAP1 BRCA1 associated protein 1 gene DOID:3275 thymoma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24974848 12178959 BAP1 BRCA1 associated protein 1 gene DOID:3315 lipoma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 12178959 BAP1 BRCA1 associated protein 1 gene DOID:3369 Ewing sarcoma ISO RGD:1323652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ewing sarcoma PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12178959 BAP1 BRCA1 associated protein 1 gene DOID:3495 extrahepatic bile duct adenocarcinoma disease_progression ISO RGD:1323652 D RGD:9068941 20210827 RGD PMID:25536104|REF_RGD_ID:150340631 12178959 BAP1 BRCA1 associated protein 1 gene DOID:3565 meningioma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 12178959 BAP1 BRCA1 associated protein 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 12178959 BAP1 BRCA1 associated protein 1 gene DOID:3948 adrenocortical carcinoma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 12178959 BAP1 BRCA1 associated protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691|PMID:22683710|PMID:23797736|PMID:25231345 12178959 BAP1 BRCA1 associated protein 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1323652 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:25741868|PMID:28492532|PMID:35483881|PMID:35992853 12178959 BAP1 BRCA1 associated protein 1 gene DOID:4531 mucoepidermoid carcinoma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 12178959 BAP1 BRCA1 associated protein 1 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1323652 D RGD:9068941 20210827 RGD PMID:27864835|REF_RGD_ID:150340628 12178959 BAP1 BRCA1 associated protein 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24185509|PMID:25231345 12178959 BAP1 BRCA1 associated protein 1 gene DOID:5078 ganglioglioma ISO RGD:1323652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ganglioglioma PMID:25741868|PMID:28492532 12178959 BAP1 BRCA1 associated protein 1 gene DOID:6039 uveal melanoma ISO RGD:1323652 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Melanoma, uveal, susceptibility to, 2 | ClinVar Annotator: match by term: Uveal melanoma PMID:21874000|PMID:23032617|PMID:23684012|PMID:25687217|PMID:25741868|PMID:26556299|PMID:26683624|PMID:26719535|PMID:28492532|PMID:28793149|PMID:30477459|PMID:31186267|PMID:32002398 12178959 BAP1 BRCA1 associated protein 1 gene DOID:6039 uveal melanoma disease_progression ISO RGD:1323652 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression: : PMID:25147369|REF_RGD_ID:9586037 12178959 BAP1 BRCA1 associated protein 1 gene DOID:6039 uveal melanoma susceptibility ISO RGD:1323652 D RGD:7240710 20230517 OMIM 12178959 BAP1 BRCA1 associated protein 1 gene DOID:630 genetic disease ISO RGD:1323652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12178959 BAP1 BRCA1 associated protein 1 gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:1323652 D RGD:9068941 20210604 RGD PMID:27422796|REF_RGD_ID:127229946 12178959 BAP1 BRCA1 associated protein 1 gene DOID:8923 skin melanoma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345|PMID:26719535 12178959 BAP1 BRCA1 associated protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345|PMID:26719535 12178959 BAP1 BRCA1 associated protein 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24928783 12178959 BAP1 BRCA1 associated protein 1 gene DOID:9001326 Nevus, Epithelioid and Spindle Cell ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 12178959 BAP1 BRCA1 associated protein 1 gene DOID:9002089 Tumor Predisposition Syndrome 1 ISO RGD:1323652 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 | ClinVar Annotator: match by term: Tumor susceptibility linked to germline BAP1 mutations PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23550303|PMID:23585512|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24187051|PMID:24243779|PMID:24728327|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25929848|PMID:25974357|PMID:26096145|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:27123562|PMID:27153395|PMID:27181379|PMID:27507853|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28170043|PMID:28213671|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28793149|PMID:28900502|PMID:29212164|PMID:29351919|PMID:29368341|PMID:29478780|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:29978187|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31432501|PMID:31465090|PMID:31887429|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32325837|PMID:32649346|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:35051358|PMID:35483881|PMID:35992853|PMID:9536098 12178959 BAP1 BRCA1 associated protein 1 gene DOID:9002089 Tumor Predisposition Syndrome 1 susceptibility ISO RGD:1323652 D RGD:7240710 20230517 OMIM 12178959 BAP1 BRCA1 associated protein 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26719535 12178959 BAP1 BRCA1 associated protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 12178959 BAP1 BRCA1 associated protein 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 12178959 BAP1 BRCA1 associated protein 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 12178959 BAP1 BRCA1 associated protein 1 gene DOID:9003566 Mesothelioma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21642991|PMID:21874000|PMID:26119930|PMID:26719535 12178959 BAP1 BRCA1 associated protein 1 gene DOID:9004207 Testicular Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 12178959 BAP1 BRCA1 associated protein 1 gene DOID:9004268 Uterine Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 12178959 BAP1 BRCA1 associated protein 1 gene DOID:9004389 Bone Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 12178959 BAP1 BRCA1 associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28213671|PMID:28492532|PMID:35051358 12178959 BAP1 BRCA1 associated protein 1 gene DOID:9004799 KURY-ISIDOR SYNDROME ISO RGD:1323652 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Kury-Isidor syndrome PMID:16341802|PMID:19197335|PMID:24970262|PMID:25741868|PMID:25974357|PMID:26467025|PMID:26683624|PMID:26719535|PMID:28492532|PMID:28551647|PMID:29641532|PMID:31034483|PMID:32068069|PMID:35051358 12178959 BAP1 BRCA1 associated protein 1 gene DOID:9004799 KURY-ISIDOR SYNDROME susceptibility ISO RGD:1323652 D RGD:7240710 20230517 OMIM 12178959 BAP1 BRCA1 associated protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26719535 12178959 BAP1 BRCA1 associated protein 1 gene DOID:9005825 Nevi and Melanomas ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21874003 12178959 BAP1 BRCA1 associated protein 1 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 12178959 BAP1 BRCA1 associated protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323652 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18757409|PMID:21642991|PMID:21874000|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22935333|PMID:23171164|PMID:23341325|PMID:23684012|PMID:23709298|PMID:24166983|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25889843|PMID:25929848|PMID:25974357|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:27123562|PMID:27181379|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28767289|PMID:28793149|PMID:28900502|PMID:29212164|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30258054|PMID:30338612|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31382694|PMID:31382929|PMID:32068069|PMID:32649346|PMID:9536098 12178959 BAP1 BRCA1 associated protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323652 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18757409|PMID:21642991|PMID:21874000|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22935333|PMID:23171164|PMID:23341325|PMID:23684012|PMID:23709298|PMID:24166983|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25889843|PMID:25929848|PMID:25974357|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:27123562|PMID:27181379|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28767289|PMID:28793149|PMID:28900502|PMID:29212164|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30258054|PMID:30338612|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31382694|PMID:31382929|PMID:32002398|PMID:32068069|PMID:32649346|PMID:9536098 12178959 BAP1 BRCA1 associated protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323652 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:18757409|PMID:21642991|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22889334|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23684012|PMID:23709298|PMID:23849051|PMID:24166983|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25900292|PMID:25929848|PMID:25974357|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:27123562|PMID:27181379|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28767289|PMID:28793149|PMID:28900502|PMID:29061454|PMID:29212164|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31432501|PMID:31465090|PMID:31887429|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32649346|PMID:33240524|PMID:33600035|PMID:33606809|PMID:9536098 12178959 BAP1 BRCA1 associated protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:21642991|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22889334|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25900292|PMID:25929848|PMID:25974357|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:27123562|PMID:27153395|PMID:27181379|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28170043|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28767289|PMID:28793149|PMID:28900502|PMID:29061454|PMID:29212164|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31432501|PMID:31465090|PMID:31887429|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32325837|PMID:32649346|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:9536098 12178959 BAP1 BRCA1 associated protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323652 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:21642991|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22889334|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25900292|PMID:25929848|PMID:25974357|PMID:26096145|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:27123562|PMID:27153395|PMID:27181379|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28170043|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28767289|PMID:28793149|PMID:28900502|PMID:29061454|PMID:29212164|PMID:29368341|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31432501|PMID:31465090|PMID:31887429|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32325837|PMID:32649346|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:35483881|PMID:35992853|PMID:9536098 12178959 BAP1 BRCA1 associated protein 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 12178959 BAP1 BRCA1 associated protein 1 gene DOID:9007701 Central Nervous System Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 12178959 BAP1 BRCA1 associated protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345|PMID:26719535 12178959 BAP1 BRCA1 associated protein 1 gene DOID:9538 multiple myeloma ISO RGD:1323652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12178980 PPM1M protein phosphatase, Mg2+/Mn2+ dependent 1M gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1602186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12178980 PPM1M protein phosphatase, Mg2+/Mn2+ dependent 1M gene DOID:630 genetic disease ISO RGD:1602186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178994 SERPINB9 serpin family B member 9 gene DOID:630 genetic disease ISO RGD:1318666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12178994 SERPINB9 serpin family B member 9 gene DOID:9001341 Chloracne ISO RGD:1318666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12178994 SERPINB9 serpin family B member 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12179005 CD7 CD7 molecule gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1320672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12179005 CD7 CD7 molecule gene DOID:630 genetic disease ISO RGD:1320672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179005 CD7 CD7 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12179005 CD7 CD7 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:1320672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12179013 SLC27A5 solute carrier family 27 member 5 gene DOID:2661 myoepithelioma ISO RGD:1349953 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12179013 SLC27A5 solute carrier family 27 member 5 gene DOID:630 genetic disease ISO RGD:1349953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12179015 BCL2L11 BCL2 like 11 gene DOID:14268 sclerosing cholangitis ISO RGD:734299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21151127 12179015 BCL2L11 BCL2 like 11 gene DOID:2921 glomerulonephritis ISO RGD:734300 D RGD:9068941 20200609 RGD PMID:10576740|REF_RGD_ID:734641 12179015 BCL2L11 BCL2 like 11 gene DOID:630 genetic disease ISO RGD:734299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179015 BCL2L11 BCL2 like 11 gene DOID:9005539 Familial Prostate Cancer ISO RGD:734299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12179015 BCL2L11 BCL2 like 11 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 12179053 TIGD6 tigger transposable element derived 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343289 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12179053 TIGD6 tigger transposable element derived 6 gene DOID:630 genetic disease ISO RGD:1343289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179053 TIGD6 tigger transposable element derived 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12179053 TIGD6 tigger transposable element derived 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343289 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12179090 CAND1 cullin associated and neddylation dissociated 1 gene DOID:10283 prostate cancer ISO RGD:733696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12179090 CAND1 cullin associated and neddylation dissociated 1 gene DOID:630 genetic disease ISO RGD:733696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179112 CFAP36 cilia and flagella associated protein 36 gene DOID:630 genetic disease ISO RGD:1603927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179139 BMPER BMP binding endothelial regulator gene DOID:2559 opiate dependence ISO RGD:1604514 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 12179139 BMPER BMP binding endothelial regulator gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12179139 BMPER BMP binding endothelial regulator gene DOID:630 genetic disease ISO RGD:1604514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12179139 BMPER BMP binding endothelial regulator gene DOID:684 hepatocellular carcinoma ISO RGD:1604514 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12179139 BMPER BMP binding endothelial regulator gene DOID:9000836 Diaphanospondylodysostosis ISO RGD:1604514 D RGD:7240710 20180130 OMIM 12179139 BMPER BMP binding endothelial regulator gene DOID:9000836 Diaphanospondylodysostosis ISO RGD:1604514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diaphanospondylodysostosis PMID:20869035|PMID:21990102|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30006055 12179157 MALT1 MALT1 paracaspase gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1319401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21173233 12179157 MALT1 MALT1 paracaspase gene DOID:0060058 lymphoma ISO RGD:1319401 D RGD:9068941 20200609 RGD PMID:10523859|REF_RGD_ID:1599913 12179157 MALT1 MALT1 paracaspase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1319401 D RGD:9068941 20200609 RGD PMID:12560219|REF_RGD_ID:1599912 12179157 MALT1 MALT1 paracaspase gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1319401 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 12179157 MALT1 MALT1 paracaspase gene DOID:0111988 immunodeficiency 12 ISO RGD:1319401 D RGD:7240710 20180130 OMIM 12179157 MALT1 MALT1 paracaspase gene DOID:0111988 immunodeficiency 12 ISO RGD:1319401 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23727036|PMID:24332264|PMID:25627829|PMID:25741868|PMID:27068814|PMID:28492532|PMID:35079916|PMID:9536098 12179157 MALT1 MALT1 paracaspase gene DOID:627 severe combined immunodeficiency ISO RGD:1319401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 12179157 MALT1 MALT1 paracaspase gene DOID:630 genetic disease ISO RGD:1319401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12179178 GTF2F1 general transcription factor IIF subunit 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1343690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12179178 GTF2F1 general transcription factor IIF subunit 1 gene DOID:630 genetic disease ISO RGD:1343690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179202 BTD biotinidase gene DOID:0060417 3p deletion syndrome ISO RGD:1313273 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12179202 BTD biotinidase gene DOID:1059 intellectual disability ISO RGD:1313273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:14707518|PMID:17185019|PMID:20224900|PMID:20301497|PMID:22698809|PMID:23644139|PMID:24797656|PMID:25174816|PMID:25423671|PMID:25741868|PMID:25754625|PMID:26361991|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27378695|PMID:27657684|PMID:28492532|PMID:28498829|PMID:28971021|PMID:29359854|PMID:31337602|PMID:9232193|PMID:9375914|PMID:9396567|PMID:9654207 12179202 BTD biotinidase gene DOID:11383 cryptorchidism ISO RGD:1313273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptorchidism 12179202 BTD biotinidase gene DOID:12849 autistic disorder ISO RGD:1313273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:13680408 12179202 BTD biotinidase gene DOID:630 genetic disease ISO RGD:1313273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:1668630|PMID:18845537|PMID:19757147|PMID:20083419|PMID:20224900|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:21752405|PMID:22698809|PMID:22975760|PMID:22995991|PMID:23644139|PMID:23971085|PMID:24033266|PMID:24066991|PMID:24525934|PMID:24797656|PMID:25087612|PMID:25174816|PMID:25333069|PMID:25741868|PMID:25754625|PMID:25967232|PMID:26334177|PMID:26361991|PMID:26467025|PMID:26589311|PMID:26810761|PMID:27207447|PMID:27329734|PMID:27535533|PMID:27625817|PMID:27657684|PMID:27760515|PMID:27845546|PMID:28281033|PMID:28492532|PMID:28498829|PMID:28682309|PMID:28971021|PMID:29353266|PMID:29359854|PMID:29995633|PMID:30912303|PMID:31208052|PMID:31337602|PMID:31801038|PMID:32300527|PMID:33123633|PMID:33189081|PMID:33217065|PMID:33312878|PMID:34136440|PMID:7509806|PMID:9099842|PMID:9232193|PMID:9375914|PMID:9396567|PMID:9654207 12179202 BTD biotinidase gene DOID:856 biotinidase deficiency ISO RGD:1313273 D RGD:7240710 20180130 OMIM 12179202 BTD biotinidase gene DOID:856 biotinidase deficiency ISO RGD:1313273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Biotinidase deficiency PMID:10206677|PMID:10394193|PMID:10400129|PMID:10655158|PMID:10801053|PMID:10801060|PMID:11313766|PMID:11380987|PMID:11668630|PMID:11865279|PMID:12227467|PMID:12359137|PMID:12618081|PMID:14628140|PMID:14707518|PMID:15059618|PMID:15060693|PMID:15776412|PMID:16199547|PMID:16435182|PMID:1668630|PMID:17185019|PMID:17382128|PMID:17576681|PMID:18645204|PMID:18845537|PMID:19728141|PMID:19757147|PMID:20083419|PMID:20224900|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:21752405|PMID:21907891|PMID:22011816|PMID:22106832|PMID:22698809|PMID:22863189|PMID:22975760|PMID:22995991|PMID:23644139|PMID:23971085|PMID:24033266|PMID:24066991|PMID:24516753|PMID:24525934|PMID:24797656|PMID:24932929|PMID:25087612|PMID:25144890|PMID:25174816|PMID:25333069|PMID:25423671|PMID:25741868|PMID:25754625|PMID:25967232|PMID:25972378|PMID:26117549|PMID:26203071|PMID:26334177|PMID:26361991|PMID:26467025|PMID:26589311|PMID:26635394|PMID:26656798|PMID:26810761|PMID:26990548|PMID:27207447|PMID:27329734|PMID:27378695|PMID:27533158|PMID:27535533|PMID:27625817|PMID:27629047|PMID:27657684|PMID:27760515|PMID:27845546|PMID:28220409|PMID:28281033|PMID:28492532|PMID:28498829|PMID:28649532|PMID:28649539|PMID:28682309|PMID:28971021|PMID:29353266|PMID:29359854|PMID:29728376|PMID:29995633|PMID:30616616|PMID:30912303|PMID:31035122|PMID:31208052|PMID:31337602|PMID:31618753|PMID:31801038|PMID:31973013|PMID:31980526|PMID:32300527|PMID:33123633|PMID:33189081|PMID:33217065|PMID:33223529|PMID:33312878|PMID:34136440|PMID:34448386|PMID:7509806|PMID:7550325|PMID:88555|PMID:9099842|PMID:9158148|PMID:9232193|PMID:9375914|PMID:9396567|PMID:9506660|PMID:9536098|PMID:9654207|PMID:9705240 12179202 BTD biotinidase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1313273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15469856 12179202 BTD biotinidase gene DOID:9008086 Developmental Disabilities ISO RGD:1313273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12179215 SF3A1 splicing factor 3a subunit 1 gene DOID:630 genetic disease ISO RGD:1322957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:0060041 autism spectrum disorder ISO RGD:1322469 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1322469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1322469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1322469 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:10283 prostate cancer disease_progression ISO RGD:1322469 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:7624992|REF_RGD_ID:2315611 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:10763 hypertension ISO RGD:1311159 D RGD:9068941 20200609 RGD mRNA:decreased expression:medulla oblongata PMID:16445702|REF_RGD_ID:5509789 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:11054 urinary bladder cancer ISO RGD:1322469 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:14532840|REF_RGD_ID:2315608 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:12177 common variable immunodeficiency ISO RGD:1322469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:1612 breast cancer disease_progression ISO RGD:1322469 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:19282568|REF_RGD_ID:2315607 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:2729 dyskeratosis congenita ISO RGD:1322469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:37 skin disease ISO RGD:1322469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:4450 renal cell carcinoma ISO RGD:1322469 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:14654968|REF_RGD_ID:2315610 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:574 peripheral nervous system disease ISO RGD:1322469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:6000 congestive heart failure ISO RGD:1311159 D RGD:9068941 20200609 RGD PMID:15623566|REF_RGD_ID:5509787 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:630 genetic disease ISO RGD:1322469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1322469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:8577 ulcerative colitis ISO RGD:1322469 D RGD:9068941 20200609 RGD protein:increased expression:large intestine epithelium PMID:7679252|REF_RGD_ID:5509621 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:8778 Crohn's disease ISO RGD:1322469 D RGD:9068941 20200609 RGD protein:increased expression:large intestine epithelium PMID:7679252|REF_RGD_ID:5509621 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:8893 psoriasis ISO RGD:1322469 D RGD:9068941 20200609 RGD protein:increased expression:keratinocyte PMID:8304420|REF_RGD_ID:5509788 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:9001472 Nasal Polyps ISO RGD:1322469 D RGD:9068941 20200609 RGD mRNA:decreased expression:nasal cavity epithelium PMID:20554417|REF_RGD_ID:5509597 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:9001542 Albuminuria ISO RGD:1322469 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphism:cds:p.R261Q (human) PMID:18640486|REF_RGD_ID:2313875 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:9002211 Hyperalgesia ISO RGD:1322469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12582831 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:9003730 Chemical Burns ISO RGD:1322469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:9004009 Reperfusion Injury ISO RGD:1311159 D RGD:9068941 20200609 RGD PMID:15518705|REF_RGD_ID:5509617 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:9004207 Testicular Neoplasms ISO RGD:1322469 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:14767568|REF_RGD_ID:2315609 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:9005172 Lung Neoplasms ISO RGD:1322470 D RGD:9068941 20200609 RGD PMID:7511046|REF_RGD_ID:2313872 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:9006182 Carotid Artery Injuries ISO RGD:1311159 D RGD:9068941 20200609 RGD PMID:16118253|REF_RGD_ID:5509614 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:9007482 Bone Metastasis ISO RGD:1322469 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms; PMID:14669797|REF_RGD_ID:1578303 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:9352 type 2 diabetes mellitus ISO RGD:1322469 D RGD:9068941 20200609 RGD protein:decreased activity:platelet (human) PMID:9500559|REF_RGD_ID:2313877 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:9970 obesity ISO RGD:1311159 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue, fat cell PMID:20978234|REF_RGD_ID:5509594 12179236 ALOX12 arachidonate 12-lipoxygenase, 12S type gene DOID:9970 obesity ISO RGD:1322470 D RGD:9068941 20200609 RGD PMID:18780776|REF_RGD_ID:5509628 12179255 SAMD11 sterile alpha motif domain containing 11 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1353453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12179255 SAMD11 sterile alpha motif domain containing 11 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1353453 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12179255 SAMD11 sterile alpha motif domain containing 11 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1353453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12179255 SAMD11 sterile alpha motif domain containing 11 gene DOID:0111934 immunodeficiency 38 ISO RGD:1353453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12179255 SAMD11 sterile alpha motif domain containing 11 gene DOID:0111935 immunodeficiency 16 ISO RGD:1353453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12179255 SAMD11 sterile alpha motif domain containing 11 gene DOID:10584 retinitis pigmentosa ISO RGD:1353453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 12179255 SAMD11 sterile alpha motif domain containing 11 gene DOID:630 genetic disease ISO RGD:1353453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12179255 SAMD11 sterile alpha motif domain containing 11 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12179255 SAMD11 sterile alpha motif domain containing 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12179255 SAMD11 sterile alpha motif domain containing 11 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1353453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12179298 RER1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1351700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12179298 RER1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1351700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12179298 RER1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1351700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12179298 RER1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1351700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) 12179298 RER1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0080481 peroxisome biogenesis disorder 6A ISO RGD:1351700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A (Zellweger) 12179298 RER1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1351700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12179298 RER1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1351700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12179298 RER1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:1351700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12179298 RER1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:1351700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12179298 RER1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1351700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12179298 RER1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:630 genetic disease ISO RGD:1351700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179298 RER1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12179298 RER1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1351700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12179298 RER1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1351700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12179316 AP4S1 adaptor related protein complex 4 subunit sigma 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1348189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 12179316 AP4S1 adaptor related protein complex 4 subunit sigma 1 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1348189 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:25741868 12179316 AP4S1 adaptor related protein complex 4 subunit sigma 1 gene DOID:0110804 hereditary spastic paraplegia 52 ISO RGD:1348189 D RGD:7240710 20180130 OMIM 12179316 AP4S1 adaptor related protein complex 4 subunit sigma 1 gene DOID:0110804 hereditary spastic paraplegia 52 ISO RGD:1348189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 52, autosomal recessive PMID:17576681|PMID:18414213|PMID:21620353|PMID:23167973|PMID:24700674|PMID:25552650|PMID:25741868|PMID:26297806|PMID:27444738|PMID:28492532|PMID:28708303|PMID:31660686|PMID:32979048|PMID:9536098 12179316 AP4S1 adaptor related protein complex 4 subunit sigma 1 gene DOID:1059 intellectual disability ISO RGD:1348189 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21620353|PMID:25552650|PMID:25741868|PMID:27444738|PMID:28492532|PMID:28708303|PMID:32979048 12179316 AP4S1 adaptor related protein complex 4 subunit sigma 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1348189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:25741868|PMID:28492532 12179316 AP4S1 adaptor related protein complex 4 subunit sigma 1 gene DOID:607 paraplegia ISO RGD:1348189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:18414213|PMID:21620353|PMID:23167973|PMID:24700674|PMID:25552650|PMID:25741868|PMID:26297806|PMID:26633542|PMID:27444738|PMID:28492532|PMID:28708303|PMID:30283821|PMID:31660686|PMID:31915823|PMID:32979048|PMID:9536098 12179316 AP4S1 adaptor related protein complex 4 subunit sigma 1 gene DOID:630 genetic disease ISO RGD:1348189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:32979048 12179316 AP4S1 adaptor related protein complex 4 subunit sigma 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:16199547|PMID:21620353|PMID:25552650|PMID:25741868|PMID:27444738|PMID:28492532 12179316 AP4S1 adaptor related protein complex 4 subunit sigma 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1348189 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12179342 MED24 mediator complex subunit 24 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1348876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 12179342 MED24 mediator complex subunit 24 gene DOID:630 genetic disease ISO RGD:1348876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179342 MED24 mediator complex subunit 24 gene DOID:9007661 Dwarfism ISO RGD:1348876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12179378 HTATSF1 HIV-1 Tat specific factor 1 gene DOID:0060022 CD40 ligand deficiency ISO RGD:1344524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12179378 HTATSF1 HIV-1 Tat specific factor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12179378 HTATSF1 HIV-1 Tat specific factor 1 gene DOID:0060825 Christianson syndrome ISO RGD:1344524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12179378 HTATSF1 HIV-1 Tat specific factor 1 gene DOID:12849 autistic disorder ISO RGD:1344524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12179378 HTATSF1 HIV-1 Tat specific factor 1 gene DOID:630 genetic disease ISO RGD:1344524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179378 HTATSF1 HIV-1 Tat specific factor 1 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1344524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12179378 HTATSF1 HIV-1 Tat specific factor 1 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1344524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12179378 HTATSF1 HIV-1 Tat specific factor 1 gene DOID:9007823 Chromosome Xq26.3 Duplication Syndrome ISO RGD:1344524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome PMID:26935837 12179395 OR6V1 olfactory receptor family 6 subfamily V member 1 gene DOID:630 genetic disease ISO RGD:1345347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179399 FOXA3 forkhead box A3 gene DOID:630 genetic disease ISO RGD:1605725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179399 FOXA3 forkhead box A3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22919386 12179399 FOXA3 forkhead box A3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2809 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11018767|REF_RGD_ID:2315085 12179405 EOMES eomesodermin gene DOID:11054 urinary bladder cancer ISO RGD:1353316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 12179405 EOMES eomesodermin gene DOID:2030 anxiety disorder ISO RGD:1353316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26415720 12179405 EOMES eomesodermin gene DOID:438 autoimmune disease of the nervous system ISO RGD:1353316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27742544 12179405 EOMES eomesodermin gene DOID:630 genetic disease ISO RGD:1353316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179405 EOMES eomesodermin gene DOID:9002928 Colonic Neoplasms ISO RGD:1353316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27539959 12179405 EOMES eomesodermin gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1353316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 12179423 GTF2E1 general transcription factor IIE subunit 1 gene DOID:630 genetic disease ISO RGD:1315703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179423 GTF2E1 general transcription factor IIE subunit 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1315703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12179423 GTF2E1 general transcription factor IIE subunit 1 gene DOID:9270 alkaptonuria ISO RGD:1315703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12179453 LANCL3 LanC like family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12179453 LANCL3 LanC like family member 3 gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1349608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 12179453 LANCL3 LanC like family member 3 gene DOID:12849 autistic disorder ISO RGD:1349608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12179453 LANCL3 LanC like family member 3 gene DOID:630 genetic disease ISO RGD:1349608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179453 LANCL3 LanC like family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12179453 LANCL3 LanC like family member 3 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1349608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 12179462 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:0060041 autism spectrum disorder ISO RGD:736139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 12179462 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:736139 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 12179462 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:0080447 developmental and epileptic encephalopathy 43 ISO RGD:736139 D RGD:7240710 20230517 OMIM 12179462 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:0080447 developmental and epileptic encephalopathy 43 ISO RGD:736139 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 43 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 43 PMID:11742254|PMID:12189488|PMID:23934111|PMID:25741868|PMID:26467025|PMID:26645412|PMID:26950270|PMID:26993267|PMID:27476654|PMID:28053010|PMID:28492532|PMID:33287870|PMID:33585817|PMID:34782754 12179462 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 12179462 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:1059 intellectual disability ISO RGD:736139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28053010|PMID:28492532|PMID:28544625 12179462 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:11832 visual epilepsy ISO RGD:736139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure PMID:18514161|PMID:19935738|PMID:20550555|PMID:25726841|PMID:25741868|PMID:26467025|PMID:26845707|PMID:26950270|PMID:28492532 12179462 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:11983 Prader-Willi syndrome ISO RGD:736139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 12179462 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:12849 autistic disorder ISO RGD:736139 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 12179462 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:1825 childhood absence epilepsy ISO RGD:736139 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:18514161 12179462 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:1825 childhood absence epilepsy ISO RGD:736139 D RGD:9068941 20221103 RGD DNA:SNPs PMID:16835263|REF_RGD_ID:1601269 12179462 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:1826 epilepsy ISO RGD:736139 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:20550555|PMID:25741868|PMID:26467025|PMID:28492532 12179462 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:1932 Angelman syndrome ISO RGD:736139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:26633545 12179462 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:2661 myoepithelioma ISO RGD:736139 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12179462 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:5419 schizophrenia ISO RGD:736139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12179462 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:630 genetic disease ISO RGD:736139 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18514161|PMID:19935738|PMID:20550555|PMID:23934111|PMID:24909990|PMID:24999380|PMID:25726841|PMID:25741868|PMID:25849321|PMID:26467025|PMID:26645412|PMID:26845707|PMID:26950270|PMID:26993267|PMID:28492532|PMID:28607477|PMID:8382702|PMID:9536098 12179462 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9000998 Brain Injuries ISO RGD:736139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 12179462 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9001793 Generalized Epilepsy ISO RGD:736139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:27864847|PMID:28492532|PMID:30185235|PMID:32581362 12179462 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12179462 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9004576 Sleep Initiation and Maintenance Disorders ISO RGD:736139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Insomnia PMID:11742254|PMID:12189488|PMID:25741868|PMID:28492532 12179462 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9004864 Isodicentric Chromosome 15 Syndrome ISO RGD:736139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23663378 12179462 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9006141 Childhood Absence Epilepsy 5 ISO RGD:736139 D RGD:7240710 20230517 OMIM 12179462 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9006141 Childhood Absence Epilepsy 5 ISO RGD:736139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence 5 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 5 PMID:18514161|PMID:19935738|PMID:20550555|PMID:22303015|PMID:23934111|PMID:24088041|PMID:25726841|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26845707|PMID:26950270|PMID:27476654|PMID:28492532 12179462 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9007 sudden infant death syndrome ISO RGD:736139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:11742254|PMID:12189488|PMID:25741868|PMID:28492532 12179462 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9008086 Developmental Disabilities ISO RGD:736139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:18514161|PMID:22303015|PMID:25741868|PMID:28492532 12179462 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:736139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15878204 12179462 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:736139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence 1 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:11198279|PMID:11742254|PMID:12189488|PMID:16199547|PMID:17576681|PMID:18514161|PMID:19935738|PMID:20550555|PMID:22303015|PMID:23495136|PMID:23934111|PMID:24909990|PMID:24999380|PMID:25533962|PMID:25726841|PMID:25741868|PMID:25849321|PMID:26068938|PMID:26467025|PMID:26645412|PMID:26704558|PMID:26845707|PMID:26950270|PMID:26993267|PMID:27476654|PMID:27622563|PMID:27864847|PMID:28053010|PMID:2828157|PMID:28281572|PMID:28492532|PMID:28544625|PMID:28607477|PMID:29162865|PMID:29961870|PMID:30185235|PMID:30728247|PMID:31164858|PMID:31435640|PMID:33287870|PMID:33585817|PMID:34782754|PMID:8382702|PMID:9536098 12179474 LSM3 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:0060417 3p deletion syndrome ISO RGD:1314318 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12179474 LSM3 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:630 genetic disease ISO RGD:1314318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179482 RNF24 ring finger protein 24 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1319703 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12179482 RNF24 ring finger protein 24 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1319703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12179482 RNF24 ring finger protein 24 gene DOID:630 genetic disease ISO RGD:1319703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179504 PARP15 poly(ADP-ribose) polymerase family member 15 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1353381 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12179504 PARP15 poly(ADP-ribose) polymerase family member 15 gene DOID:1936 atherosclerosis ISO RGD:1353381 D RGD:9068941 20230128 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) PMID:33381146|REF_RGD_ID:155882464 12179504 PARP15 poly(ADP-ribose) polymerase family member 15 gene DOID:630 genetic disease ISO RGD:1353381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179504 PARP15 poly(ADP-ribose) polymerase family member 15 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1353381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12179504 PARP15 poly(ADP-ribose) polymerase family member 15 gene DOID:9270 alkaptonuria ISO RGD:1353381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12179528 IL17C interleukin 17C gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1351651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12179528 IL17C interleukin 17C gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1351651 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12179528 IL17C interleukin 17C gene DOID:14780 KBG syndrome ISO RGD:1351651 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 12179528 IL17C interleukin 17C gene DOID:630 genetic disease ISO RGD:1351651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179528 IL17C interleukin 17C gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1351651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12179533 LEPROT leptin receptor overlapping transcript gene DOID:1059 intellectual disability ISO RGD:1353937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12179533 LEPROT leptin receptor overlapping transcript gene DOID:630 genetic disease ISO RGD:1353937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179533 LEPROT leptin receptor overlapping transcript gene DOID:9004946 Leptin Receptor Deficiency ISO RGD:1353937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leptin receptor deficiency PMID:28492532 12179533 LEPROT leptin receptor overlapping transcript gene DOID:9970 obesity ISO RGD:1353937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity PMID:28492532 12179553 TMEM92 transmembrane protein 92 gene DOID:630 genetic disease ISO RGD:1603555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179553 TMEM92 transmembrane protein 92 gene DOID:9008086 Developmental Disabilities ISO RGD:1603555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 12179566 METTL22 methyltransferase 22, Kin17 lysine gene DOID:630 genetic disease ISO RGD:1601964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179590 LY96 lymphocyte antigen 96 gene DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ISO RGD:1349135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 PMID:21147908|PMID:28492532 12179590 LY96 lymphocyte antigen 96 gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1349135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K PMID:15805163|PMID:20685671|PMID:21681106 12179590 LY96 lymphocyte antigen 96 gene DOID:0110185 Charcot-Marie-Tooth disease type 4A ISO RGD:1349135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A PMID:28492532 12179590 LY96 lymphocyte antigen 96 gene DOID:13580 cholestasis ISO RGD:1349135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12179590 LY96 lymphocyte antigen 96 gene DOID:305 carcinoma ISO RGD:1349135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 12179590 LY96 lymphocyte antigen 96 gene DOID:630 genetic disease ISO RGD:1349135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179590 LY96 lymphocyte antigen 96 gene DOID:7148 rheumatoid arthritis ISO RGD:1349135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 12179590 LY96 lymphocyte antigen 96 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 12179590 LY96 lymphocyte antigen 96 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12179590 LY96 lymphocyte antigen 96 gene DOID:9003321 Bacterial Keratitis ISO RGD:1623303 D RGD:9068941 20200609 RGD associated with Serratia Infections; PMID:23033384|REF_RGD_ID:8662876 12179590 LY96 lymphocyte antigen 96 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1349135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 12179604 CDCA5 cell division cycle associated 5 gene DOID:0080600 COVID-19 ISO RGD:1350338 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12179604 CDCA5 cell division cycle associated 5 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12179604 CDCA5 cell division cycle associated 5 gene DOID:1059 intellectual disability ISO RGD:1350338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12179604 CDCA5 cell division cycle associated 5 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1350338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12179604 CDCA5 cell division cycle associated 5 gene DOID:2746 glycogen storage disease V ISO RGD:1350338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12179604 CDCA5 cell division cycle associated 5 gene DOID:3070 high grade glioma ISO RGD:1350338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12179604 CDCA5 cell division cycle associated 5 gene DOID:630 genetic disease ISO RGD:1350338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179604 CDCA5 cell division cycle associated 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1350338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12179627 C8H14orf28 chromosome 8 C14orf28 homolog gene DOID:13636 Fanconi anemia ISO RGD:1316923 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29895858|PMID:30075111 12179627 C8H14orf28 chromosome 8 C14orf28 homolog gene DOID:630 genetic disease ISO RGD:1316923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179627 C8H14orf28 chromosome 8 C14orf28 homolog gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316923 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12179640 ISL1 ISL LIM homeobox 1 gene DOID:0060224 atrial fibrillation ISO RGD:736062 D RGD:9068941 20230406 RGD DNA:mutation:cds:c.481G>T (human) PMID:32771629|REF_RGD_ID:243049245 12179640 ISL1 ISL LIM homeobox 1 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:736062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BLADDER EXSTROPHY AND EPISPADIAS COMPLEX | ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex 12179640 ISL1 ISL LIM homeobox 1 gene DOID:11054 urinary bladder cancer ISO RGD:736062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26332997 12179640 ISL1 ISL LIM homeobox 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:736062 D RGD:9068941 20230406 RGD DNA:mutation:cds:c.631A>T(human) PMID:30536204|REF_RGD_ID:243049244 12179640 ISL1 ISL LIM homeobox 1 gene DOID:1459 hypothyroidism susceptibility ISO RGD:62250 D RGD:9068941 20230406 RGD PMID:26296153|REF_RGD_ID:11353031 12179640 ISL1 ISL LIM homeobox 1 gene DOID:1657 ventricular septal defect ISO RGD:736062 D RGD:9068941 20230406 RGD DNA:polymorphisms: :rs3762977,IVS1+17C(human) PMID:23572340|REF_RGD_ID:243048461 12179640 ISL1 ISL LIM homeobox 1 gene DOID:1657 ventricular septal defect susceptibility ISO RGD:736062 D RGD:9068941 20230406 RGD DNA:SNP: :rs1017(human) PMID:24634231|REF_RGD_ID:243049248 12179640 ISL1 ISL LIM homeobox 1 gene DOID:1682 congenital heart disease ISO RGD:736062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of 12179640 ISL1 ISL LIM homeobox 1 gene DOID:1682 congenital heart disease no_association ISO RGD:736062 D RGD:9068941 20230406 RGD DNA:SNPs:3'UTR:(human) PMID:23229290|REF_RGD_ID:243049243 12179640 ISL1 ISL LIM homeobox 1 gene DOID:1682 congenital heart disease susceptibility ISO RGD:736062 D RGD:9068941 20230406 RGD DNA:SNPs, haplotype:intron, 3'UTR:(human) PMID:20520780|REF_RGD_ID:243049242 12179640 ISL1 ISL LIM homeobox 1 gene DOID:1882 atrial heart septal defect susceptibility ISO RGD:736062 D RGD:9068941 20230406 RGD DNA:SNP: :rs1017(human) PMID:24634231|REF_RGD_ID:243049248 12179640 ISL1 ISL LIM homeobox 1 gene DOID:5844 myocardial infarction ISO RGD:62250 D RGD:9068941 20230406 RGD PMID:22727192|REF_RGD_ID:243048464 12179640 ISL1 ISL LIM homeobox 1 gene DOID:5844 myocardial infarction ameliorates ISO RGD:736062 D RGD:9068941 20230406 RGD PMID:29482621|REF_RGD_ID:243048463 12179640 ISL1 ISL LIM homeobox 1 gene DOID:630 genetic disease ISO RGD:736062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179640 ISL1 ISL LIM homeobox 1 gene DOID:6406 double outlet right ventricle ISO RGD:736062 D RGD:9068941 20230406 RGD DNA:mutation:cds:c.225C>G(human) PMID:31484864|REF_RGD_ID:243048467 12179640 ISL1 ISL LIM homeobox 1 gene DOID:769 neuroblastoma ISO RGD:736062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30127528 12179640 ISL1 ISL LIM homeobox 1 gene DOID:9003370 Dyslipidemias treatment ISO RGD:61957 D RGD:9068941 20230413 RGD PMID:32277945|REF_RGD_ID:243049251 12179640 ISL1 ISL LIM homeobox 1 gene DOID:9003370 Dyslipidemias treatment ISO RGD:62250 D RGD:9068941 20230413 RGD PMID:32277945|REF_RGD_ID:243049251 12179640 ISL1 ISL LIM homeobox 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12179640 ISL1 ISL LIM homeobox 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:736062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26332997 12179640 ISL1 ISL LIM homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:61957 D RGD:9068941 20230413 RGD mRNA,protein:decreased expression:pancreas: PMID:30341898|REF_RGD_ID:243065124 12179640 ISL1 ISL LIM homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736062 D RGD:9068941 20200609 RGD associated with Obesity;DNA:SNP:promoter:g.-47A>G (human) PMID:11978668|REF_RGD_ID:2311117 12179640 ISL1 ISL LIM homeobox 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736062 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:15161765|REF_RGD_ID:2311116 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:0060071 pre-malignant neoplasm ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21785164 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:0060318 acute promyelocytic leukemia ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16788101|PMID:26285909 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:0080600 COVID-19 ISO RGD:69121 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:69121 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:10591 pre-eclampsia ISO RGD:69121 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34398343 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:10652 Alzheimer's disease ISO RGD:10325 D RGD:9068941 20200609 RGD protein:decreased expression:forebrain, hindbrain (mouse) PMID:21492414|REF_RGD_ID:10401190 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:10652 Alzheimer's disease ISO RGD:69121 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (human) PMID:14769913|REF_RGD_ID:10401224 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:12858 Huntington's disease ISO RGD:10325 D RGD:9068941 20200609 RGD protein:altered localization:liver (mouse) PMID:17213233|REF_RGD_ID:10401191 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:12858 Huntington's disease treatment ISO RGD:10325 D RGD:9068941 20200609 RGD PMID:21651979|REF_RGD_ID:6484269 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:13533 osteopetrosis ISO RGD:10325 D RGD:9068941 20200609 RGD PMID:23580622|REF_RGD_ID:10401187 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:1749 squamous cell carcinoma ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17510391|PMID:21346772 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:224 transient cerebral ischemia ISO RGD:2326 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampal pyramidal cell layer (rat) PMID:9795105|REF_RGD_ID:10401192 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:3770 pulmonary fibrosis ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29078374 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:630 genetic disease ISO RGD:69121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:649 prion disease ISO RGD:10325 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus CA1, thalamus (mouse) PMID:23392676|REF_RGD_ID:10401270 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:684 hepatocellular carcinoma ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16288022|PMID:21785164 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:9000277 Radiation-Induced Neoplasms ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21346772 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:9000998 Brain Injuries ISO RGD:10325 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex (mouse) PMID:19833158|REF_RGD_ID:10401206 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:9002278 Metabolic Bone Diseases ISO RGD:10325 D RGD:9068941 20200609 RGD protein:increased expression:thigh bone (mouse) PMID:21982926|REF_RGD_ID:10401269 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:9002884 Emphysema ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29078374 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:9004464 Skin Neoplasms ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21346772 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:9004713 Acute-Phase Reaction ISO RGD:2326 D RGD:9068941 20200609 RGD PMID:16172914|REF_RGD_ID:1625368 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:9006169 Head and Neck Neoplasms ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17510391 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69121 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26162409|PMID:28492532|PMID:33179473 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69121 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26162409|PMID:27993330|PMID:28492532|PMID:33179473 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:9007456 Female Infertility ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21177758 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:9007801 Diseases of the Aged ISO RGD:69121 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (human) PMID:14769913|REF_RGD_ID:10401224 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:9008824 Sarcopenia ISO RGD:10325 D RGD:9068941 20200609 RGD protein:increased expression:thigh muscle (mouse) PMID:21982926|REF_RGD_ID:10401269 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:9119 acute myeloid leukemia ISO RGD:69121 D RGD:7240710 20180130 OMIM 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:9119 acute myeloid leukemia ISO RGD:69121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11242107|PMID:12661007|PMID:12692518|PMID:14726504|PMID:15575056|PMID:15902292|PMID:18768433|PMID:18946494|PMID:19731081|PMID:19953636|PMID:21177436|PMID:23716546|PMID:23926458|PMID:24220272|PMID:24728327|PMID:25741868|PMID:26162409|PMID:26721895|PMID:27005833|PMID:27993330|PMID:28250006|PMID:28492532|PMID:29296967|PMID:31867767|PMID:32430494|PMID:33179473|PMID:33345654 12179653 CEBPA CCAAT enhancer binding protein alpha gene DOID:9970 obesity ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28242765 12179672 CTHRC1 collagen triple helix repeat containing 1 gene DOID:0111590 Cohen syndrome ISO RGD:1352911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12179672 CTHRC1 collagen triple helix repeat containing 1 gene DOID:630 genetic disease ISO RGD:1352911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179672 CTHRC1 collagen triple helix repeat containing 1 gene DOID:9206 Barrett's esophagus ISO RGD:1352911 D RGD:7240710 20180130 OMIM 12179672 CTHRC1 collagen triple helix repeat containing 1 gene DOID:9206 Barrett's esophagus ISO RGD:1352911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma PMID:21791690 12179681 POLR2J RNA polymerase II subunit J gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12179681 POLR2J RNA polymerase II subunit J gene DOID:630 genetic disease ISO RGD:1320957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179695 ITGB1BP1 integrin subunit beta 1 binding protein 1 gene DOID:0080006 bone development disease ISO RGD:1317220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17567669 12179695 ITGB1BP1 integrin subunit beta 1 binding protein 1 gene DOID:630 genetic disease ISO RGD:1317220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179695 ITGB1BP1 integrin subunit beta 1 binding protein 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1317220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17567669 12179752 MIR1185 microRNA mir-1185 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:2312928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 12179802 CYCS cytochrome c, somatic gene DOID:12858 Huntington's disease severity ISO RGD:10425 D RGD:9068941 20200609 RGD protein:altered localization:cytosol PMID:12095160|REF_RGD_ID:13432083 12179802 CYCS cytochrome c, somatic gene DOID:12858 Huntington's disease severity ISO RGD:1604618 D RGD:9068941 20200609 RGD protein:altered localization:cytosol PMID:12095160|REF_RGD_ID:13432083 12179802 CYCS cytochrome c, somatic gene DOID:14749 methylmalonic acidemia ISO RGD:1604618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 12179802 CYCS cytochrome c, somatic gene DOID:1588 thrombocytopenia ISO RGD:1604618 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:18345000|PMID:22102269|PMID:24326104|PMID:25741868|PMID:31064749|PMID:32581362|PMID:34355501 12179802 CYCS cytochrome c, somatic gene DOID:1588 thrombocytopenia no_association ISO RGD:1604618 D RGD:9068941 20200609 RGD PMID:19172527|REF_RGD_ID:11352702 12179802 CYCS cytochrome c, somatic gene DOID:1793 pancreatic cancer ISO RGD:1604618 D RGD:9068941 20200609 RGD PMID:11920648|REF_RGD_ID:2317614 12179802 CYCS cytochrome c, somatic gene DOID:2213 hemorrhagic disease ISO RGD:1604618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 12179802 CYCS cytochrome c, somatic gene DOID:224 transient cerebral ischemia ISO RGD:1604618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11333366 12179802 CYCS cytochrome c, somatic gene DOID:2316 brain ischemia ISO RGD:1604618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11756504 12179802 CYCS cytochrome c, somatic gene DOID:326 ischemia ISO RGD:1604618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15172883 12179802 CYCS cytochrome c, somatic gene DOID:3907 lung squamous cell carcinoma treatment ISO RGD:1604618 D RGD:9068941 20200609 RGD PMID:25578497|REF_RGD_ID:13792769 12179802 CYCS cytochrome c, somatic gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1604618 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:25578497|REF_RGD_ID:13792769 12179802 CYCS cytochrome c, somatic gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1604618 D RGD:9068941 20200609 RGD PMID:25578497|REF_RGD_ID:13792769 12179802 CYCS cytochrome c, somatic gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12179802 CYCS cytochrome c, somatic gene DOID:4947 cholangiocarcinoma ISO RGD:1604618 D RGD:9068941 20200609 RGD PMID:19788692|REF_RGD_ID:2317615 12179802 CYCS cytochrome c, somatic gene DOID:9000081 Lymphatic Metastasis ISO RGD:1604618 D RGD:9068941 20200609 RGD associated with non-small cell lung carcinoma; protein:decreased expression:serum PMID:25578497|REF_RGD_ID:13792769 12179802 CYCS cytochrome c, somatic gene DOID:9001341 Chloracne ISO RGD:1604618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12179802 CYCS cytochrome c, somatic gene DOID:9008648 Thrombocytopenia 4 ISO RGD:1604618 D RGD:7240710 20180130 OMIM 12179802 CYCS cytochrome c, somatic gene DOID:9008648 Thrombocytopenia 4 ISO RGD:1604618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 4 PMID:18345000|PMID:22102269|PMID:24326104|PMID:25741868|PMID:28492532|PMID:30051457|PMID:31064749|PMID:34355501 12179802 CYCS cytochrome c, somatic gene DOID:9008726 Neoplasm Micrometastasis ISO RGD:1604618 D RGD:9068941 20200609 RGD associated with non-small cell lung carcinoma; protein:decreased expression:serum PMID:25578497|REF_RGD_ID:13792769 12179802 CYCS cytochrome c, somatic gene DOID:9452 fatty liver disease ISO RGD:1604618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10860543 12179802 CYCS cytochrome c, somatic gene DOID:9970 obesity ISO RGD:1604618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16317704 12179809 LRPAP1 LDL receptor related protein associated protein 1 gene DOID:10283 prostate cancer ISO RGD:1354477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12179809 LRPAP1 LDL receptor related protein associated protein 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:1354477 D RGD:9068941 20200609 RGD DNA:deletion:intron PMID:11425005|REF_RGD_ID:1358749 12179809 LRPAP1 LDL receptor related protein associated protein 1 gene DOID:10976 membranous glomerulonephritis ISO RGD:620700 D RGD:9068941 20200609 RGD PMID:7723231|REF_RGD_ID:1641936 12179809 LRPAP1 LDL receptor related protein associated protein 1 gene DOID:10976 membranous glomerulonephritis ISO RGD:620700 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus, epithelial cell PMID:7778686|REF_RGD_ID:1641937 12179809 LRPAP1 LDL receptor related protein associated protein 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1354477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12179809 LRPAP1 LDL receptor related protein associated protein 1 gene DOID:1307 dementia susceptibility ISO RGD:1354477 D RGD:9068941 20200609 RGD DNA:insertion,deletion:intron: PMID:18721259|REF_RGD_ID:10412053 12179809 LRPAP1 LDL receptor related protein associated protein 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1354477 D RGD:9068941 20200609 RGD PMID:12394648|REF_RGD_ID:1581922 12179809 LRPAP1 LDL receptor related protein associated protein 1 gene DOID:630 genetic disease ISO RGD:1354477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179809 LRPAP1 LDL receptor related protein associated protein 1 gene DOID:9001833 Myopia 23, Autosomal Recessive ISO RGD:1354477 D RGD:7240710 20180130 OMIM 12179809 LRPAP1 LDL receptor related protein associated protein 1 gene DOID:9001833 Myopia 23, Autosomal Recessive ISO RGD:1354477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia 23, autosomal recessive | ClinVar Annotator: match by term: Rare isolated myopia PMID:23830514|PMID:24033266|PMID:25525168|PMID:25741868|PMID:26271838 12179809 LRPAP1 LDL receptor related protein associated protein 1 gene DOID:9004332 Osteoarthritis, Experimental ISO RGD:620700 D RGD:9068941 20200609 RGD mRNA:decreased expression:knee PMID:24754147|REF_RGD_ID:10412054 12179809 LRPAP1 LDL receptor related protein associated protein 1 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:1354477 D RGD:9068941 20200609 RGD associated with Coronary Disease;DNA:SNP:exon PMID:14557872|REF_RGD_ID:1581921 12179821 MYOM1 myomesin 1 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:28492532 12179821 MYOM1 myomesin 1 gene DOID:0050700 cardiomyopathy ISO RGD:1346217 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 12179821 MYOM1 myomesin 1 gene DOID:0060319 cardiac arrest ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest 12179821 MYOM1 myomesin 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12179821 MYOM1 myomesin 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:28492532 12179821 MYOM1 myomesin 1 gene DOID:0110880 holoprosencephaly 4 ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 4 PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:22125506|PMID:28492532 12179821 MYOM1 myomesin 1 gene DOID:0111193 facioscapulohumeral muscular dystrophy 2 ISO RGD:1346217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 PMID:28492532 12179821 MYOM1 myomesin 1 gene DOID:1059 intellectual disability ISO RGD:1346217 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12179821 MYOM1 myomesin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1346217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16199547|PMID:17576681|PMID:21256114|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26036949|PMID:26656175|PMID:27600940|PMID:27662471|PMID:28323875|PMID:28492532|PMID:28986455|PMID:28991257|PMID:31130284|PMID:32368696|PMID:33658040|PMID:9536098 12179821 MYOM1 myomesin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24033266|PMID:28492532 12179821 MYOM1 myomesin 1 gene DOID:630 genetic disease ISO RGD:1346217 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12179821 MYOM1 myomesin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12179821 MYOM1 myomesin 1 gene DOID:9005523 Majeed Syndrome ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Majeed syndrome PMID:28492532 12179821 MYOM1 myomesin 1 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:24033266|PMID:28492532 12179821 MYOM1 myomesin 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1346217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949|PMID:28492532|PMID:31130284 12179821 MYOM1 myomesin 1 gene DOID:9993 hypoglycemia ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:25741868|PMID:28492532 12179866 CSMD3 CUB and Sushi multiple domains 3 gene DOID:12849 autistic disorder ISO RGD:1316806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18270536 12179866 CSMD3 CUB and Sushi multiple domains 3 gene DOID:303 substance-related disorder ISO RGD:1316806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12179866 CSMD3 CUB and Sushi multiple domains 3 gene DOID:4450 renal cell carcinoma ISO RGD:1316806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691|PMID:23797736 12179866 CSMD3 CUB and Sushi multiple domains 3 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12179866 CSMD3 CUB and Sushi multiple domains 3 gene DOID:630 genetic disease ISO RGD:1316806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179954 EFNA4 ephrin A4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12179954 EFNA4 ephrin A4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1317216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12179954 EFNA4 ephrin A4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1317216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12179954 EFNA4 ephrin A4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1317216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12179954 EFNA4 ephrin A4 gene DOID:1540 parathyroid carcinoma ISO RGD:1317216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12179954 EFNA4 ephrin A4 gene DOID:5812 MHC class II deficiency ISO RGD:1317216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12179954 EFNA4 ephrin A4 gene DOID:630 genetic disease ISO RGD:1317216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179954 EFNA4 ephrin A4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12179968 POLDIP2 DNA polymerase delta interacting protein 2 gene DOID:11574 streptococcal meningitis treatment ISO RGD:1315968 D RGD:9068941 20210326 RGD PMID:32790044|REF_RGD_ID:124713556 12179968 POLDIP2 DNA polymerase delta interacting protein 2 gene DOID:9002514 Neointima ISO RGD:1315968 D RGD:9068941 20210326 RGD PMID:30237457|REF_RGD_ID:124713557 12179988 APBB3 amyloid beta precursor protein binding family B member 3 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:733384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12179988 APBB3 amyloid beta precursor protein binding family B member 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733384 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12179988 APBB3 amyloid beta precursor protein binding family B member 3 gene DOID:630 genetic disease ISO RGD:733384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12179988 APBB3 amyloid beta precursor protein binding family B member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12179988 APBB3 amyloid beta precursor protein binding family B member 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733384 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12180019 MOGAT3 monoacylglycerol O-acyltransferase 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12180019 MOGAT3 monoacylglycerol O-acyltransferase 3 gene DOID:630 genetic disease ISO RGD:1350436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180019 MOGAT3 monoacylglycerol O-acyltransferase 3 gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:1350436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY PMID:21681106 12180030 ZYG11A zyg-11 family member A, cell cycle regulator gene DOID:630 genetic disease ISO RGD:1601783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180047 NOP2 NOP2 nucleolar protein gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1312158 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12180047 NOP2 NOP2 nucleolar protein gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1312158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12180047 NOP2 NOP2 nucleolar protein gene DOID:0111621 Temtamy syndrome ISO RGD:1312158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12180047 NOP2 NOP2 nucleolar protein gene DOID:630 genetic disease ISO RGD:1312158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180047 NOP2 NOP2 nucleolar protein gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1312158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12180067 ANXA10 annexin A10 gene DOID:1793 pancreatic cancer ISO RGD:1318989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28369074 12180067 ANXA10 annexin A10 gene DOID:630 genetic disease ISO RGD:1318989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180067 ANXA10 annexin A10 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1318989 D RGD:9068941 20220901 RGD mRNA:decreased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 12180084 TCEAL9 transcription elongation factor A like 9 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12180084 TCEAL9 transcription elongation factor A like 9 gene DOID:12849 autistic disorder ISO RGD:1352656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12180084 TCEAL9 transcription elongation factor A like 9 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1352656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:31690835 12180084 TCEAL9 transcription elongation factor A like 9 gene DOID:630 genetic disease ISO RGD:1352656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180096 VWF von Willebrand factor gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1347936 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 12180096 VWF von Willebrand factor gene DOID:0050486 exanthem ISO RGD:1347936 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 12180096 VWF von Willebrand factor gene DOID:0050989 episodic ataxia type 1 ISO RGD:1347936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 12180096 VWF von Willebrand factor gene DOID:0060041 autism spectrum disorder ISO RGD:1347936 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12180096 VWF von Willebrand factor gene DOID:0060224 atrial fibrillation ISO RGD:1347936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17890461 12180096 VWF von Willebrand factor gene DOID:0060224 atrial fibrillation treatment ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:21497043|REF_RGD_ID:7205648 12180096 VWF von Willebrand factor gene DOID:0060573 von Willebrand's disease 1 ISO RGD:1347936 D RGD:7240710 20180130 OMIM 12180096 VWF von Willebrand factor gene DOID:0060573 von Willebrand's disease 1 ISO RGD:1347936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: VWD, TYPE 1 | ClinVar Annotator: match by term: von Willebrand disease type 1 | ClinVar Annotator: match by term: von Willebrand disease, type 1, susceptibility to PMID:10669167|PMID:10845912|PMID:10959712|PMID:11057846|PMID:11159522|PMID:11325649|PMID:11686103|PMID:11698279|PMID:11756169|PMID:11776047|PMID:12043692|PMID:12176890|PMID:12211196|PMID:12551832|PMID:12588349|PMID:12649144|PMID:12737944|PMID:1301136|PMID:1302613|PMID:1415226|PMID:14525793|PMID:14613933|PMID:15461624|PMID:15670054|PMID:15755288|PMID:1581215|PMID:15842375|PMID:16115133|PMID:16321553|PMID:16706266|PMID:1672694|PMID:16870550|PMID:16889557|PMID:16894469|PMID:16925796|PMID:16953269|PMID:16985174|PMID:17080221|PMID:17087728|PMID:17119126|PMID:17190853|PMID:17200787|PMID:17296575|PMID:1729889|PMID:18162126|PMID:18230755|PMID:18315546|PMID:18315556|PMID:1832934|PMID:18344424|PMID:18384353|PMID:18485763|PMID:18510569|PMID:18712522|PMID:18805962|PMID:18841300|PMID:19060241|PMID:1906877|PMID:1918030|PMID:19277422|PMID:19372260|PMID:19404524|PMID:19431182|PMID:19506353|PMID:19506354|PMID:19506361|PMID:19566550|PMID:19624459|PMID:19687512|PMID:19943880|PMID:19951969|PMID:2010538|PMID:20118404|PMID:20147343|PMID:20231421|PMID:20301765|PMID:20305138|PMID:20351307|PMID:20371742|PMID:20409624|PMID:20418283|PMID:20492463|PMID:20586924|PMID:20682599|PMID:20838735|PMID:20851871|PMID:20981092|PMID:21251206|PMID:21346256|PMID:21362127|PMID:21371195|PMID:21410641|PMID:21429375|PMID:21534937|PMID:21711445|PMID:21794096|PMID:22102201|PMID:22102206|PMID:22197721|PMID:22315491|PMID:22329792|PMID:22431572|PMID:22507569|PMID:22578129|PMID:22871923|PMID:22875612|PMID:22995991|PMID:23179108|PMID:23216583|PMID:23340442|PMID:23349392|PMID:23354996|PMID:23355534|PMID:23407766|PMID:23426949|PMID:23520336|PMID:23636243|PMID:23648131|PMID:23690449|PMID:23702511|PMID:23775583|PMID:23777763|PMID:23834637|PMID:23886775|PMID:24029428|PMID:24033266|PMID:24337418|PMID:24598842|PMID:24675615|PMID:24712919|PMID:24928861|PMID:24954083|PMID:25103891|PMID:25185554|PMID:25564403|PMID:25662333|PMID:25689060|PMID:25696906|PMID:25741868|PMID:25741869|PMID:25753785|PMID:25779970|PMID:25780857|PMID:26200876|PMID:26206100|PMID:26207643|PMID:26270243|PMID:26456374|PMID:26467025|PMID:26764160|PMID:26827609|PMID:26879396|PMID:26917779|PMID:26986123|PMID:26988807|PMID:27007659|PMID:27320760|PMID:27353798|PMID:27380589|PMID:27443694|PMID:27483487|PMID:27532107|PMID:27533707|PMID:27535533|PMID:27596108|PMID:27683759|PMID:27785872|PMID:27885890|PMID:27889474|PMID:27913545|PMID:27978591|PMID:28060120|PMID:28091443|PMID:28492532|PMID:28536718|PMID:28581694|PMID:28640903|PMID:28692141|PMID:28916584|PMID:28924049|PMID:28971901|PMID:29220693|PMID:29388750|PMID:29423401|PMID:29590070|PMID:29742318|PMID:29924855|PMID:29984440|PMID:30046704|PMID:30358069|PMID:30361419|PMID:30488424|PMID:30565388|PMID:30690834|PMID:30722078|PMID:30817071|PMID:31026269|PMID:31064749|PMID:31249928|PMID:31349985|PMID:31605304|PMID:31887760|PMID:31968368|PMID:32108991|PMID:3257148|PMID:32581362|PMID:3259690|PMID:32609846|PMID:32722784|PMID:32935436|PMID:33113216|PMID:33477601|PMID:33536631|PMID:33550700|PMID:33556167|PMID:34272389|PMID:34355501|PMID:34596727|PMID:34708896|PMID:34758185|PMID:34828413|PMID:3487353|PMID:3488775|PMID:35505650|PMID:6696046|PMID:7620154|PMID:7734373|PMID:8088787|PMID:8134377|PMID:8165603|PMID:8367445|PMID:8456430|PMID:8456432|PMID:8486782|PMID:8500791|PMID:8562925|PMID:8839833|PMID:8865544|PMID:9198195|PMID:9253800|PMID:9473222|PMID:9684781|PMID:9723578 12180096 VWF von Willebrand factor gene DOID:0060574 von Willebrand's disease 2 IAGP D RGD:12801476 20220629 OMIA Von Willebrand disease II PMID:8128434|PMID:12503596|PMID:15133170|PMID:22824509|PMID:8863392|PMID:26924758|PMID:28696025|PMID:8790542|PMID:8790543|PMID:16454628|PMID:11212329|PMID:20046626|PMID:3282380 12180096 VWF von Willebrand factor gene DOID:0060574 von Willebrand's disease 2 ISO RGD:1347936 D RGD:7240710 20180130 OMIM 12180096 VWF von Willebrand factor gene DOID:0060574 von Willebrand's disease 2 ISO RGD:1347936 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: VON WILLEBRAND FACTOR POLYMORPHISM | ClinVar Annotator: match by term: Von Willebrand disease type 2A | ClinVar Annotator: match by term: Von Willebrand disease type 2B | ClinVar Annotator: match by term: von Willebrand disease type 2 | ClinVar Annotator: match by term: von Willebrand disease type 2M | ClinVar Annotator: match by term: von Willebrand disease type 2N PMID:10845912|PMID:10959712|PMID:11150026|PMID:11159522|PMID:11325649|PMID:11583318|PMID:11686103|PMID:11686104|PMID:11698279|PMID:11776047|PMID:11843298|PMID:12080112|PMID:12176890|PMID:12211196|PMID:12393698|PMID:12406074|PMID:12588349|PMID:12588351|PMID:12649144|PMID:12737944|PMID:1324533|PMID:1380739|PMID:1409710|PMID:1419803|PMID:1419804|PMID:14525793|PMID:15041272|PMID:15226181|PMID:15249683|PMID:15297300|PMID:1537829|PMID:15461624|PMID:1557393|PMID:15670054|PMID:15755288|PMID:1581215|PMID:15842375|PMID:16115133|PMID:16221672|PMID:16246252|PMID:16247740|PMID:16321553|PMID:16322474|PMID:16706266|PMID:1672694|PMID:1673047|PMID:16870550|PMID:16889557|PMID:16894469|PMID:16953269|PMID:16985174|PMID:17000885|PMID:17080221|PMID:17087728|PMID:17090649|PMID:17119126|PMID:17155947|PMID:17190853|PMID:17296575|PMID:1729889|PMID:17408416|PMID:17598021|PMID:1761120|PMID:17681836|PMID:18036186|PMID:18162126|PMID:18230755|PMID:18315546|PMID:18315556|PMID:1832934|PMID:18344424|PMID:18384353|PMID:18485763|PMID:18510569|PMID:18647226|PMID:18712522|PMID:18725999|PMID:18805962|PMID:18841300|PMID:18986390|PMID:19060241|PMID:1906179|PMID:1906877|PMID:1918030|PMID:19277422|PMID:19404524|PMID:19431182|PMID:19453940|PMID:19506354|PMID:19506361|PMID:19506362|PMID:19566550|PMID:19624459|PMID:19630771|PMID:19687512|PMID:19740526|PMID:19943880|PMID:19951969|PMID:2010538|PMID:2011604|PMID:20118404|PMID:2018834|PMID:20200350|PMID:20231421|PMID:20301765|PMID:20305138|PMID:20335223|PMID:20345715|PMID:20351307|PMID:20371742|PMID:20409624|PMID:20492463|PMID:20586924|PMID:20682599|PMID:20713003|PMID:20838735|PMID:20851871|PMID:20981092|PMID:2104761|PMID:21251206|PMID:21346256|PMID:21371195|PMID:21410641|PMID:21429375|PMID:21534937|PMID:21711445|PMID:21794096|PMID:21967679|PMID:22077376|PMID:22102201|PMID:22197721|PMID:22315491|PMID:22329792|PMID:22372972|PMID:22431572|PMID:22473027|PMID:22507569|PMID:22578129|PMID:22871923|PMID:22875612|PMID:22995991|PMID:23110044|PMID:23179108|PMID:23216583|PMID:23322777|PMID:23340442|PMID:23349392|PMID:23354996|PMID:23355534|PMID:23406206|PMID:23407766|PMID:23426949|PMID:23520336|PMID:23636243|PMID:23690449|PMID:23702511|PMID:23775583|PMID:23777763|PMID:23819767|PMID:2385594|PMID:23886775|PMID:24029428|PMID:24033266|PMID:24337418|PMID:24351655|PMID:24385719|PMID:24598842|PMID:24675615|PMID:24712919|PMID:24928861|PMID:25051961|PMID:25103891|PMID:25185554|PMID:25293780|PMID:25431025|PMID:25477497|PMID:2557900|PMID:25662333|PMID:25689060|PMID:25696906|PMID:25728415|PMID:25741868|PMID:25753785|PMID:25779970|PMID:25780857|PMID:25851809|PMID:26200876|PMID:26206100|PMID:26207643|PMID:26210168|PMID:26270243|PMID:26345337|PMID:26456374|PMID:26467025|PMID:26764160|PMID:26827609|PMID:26879396|PMID:26917779|PMID:26986123|PMID:26988807|PMID:27007659|PMID:27029718|PMID:27214365|PMID:27317792|PMID:27353798|PMID:27380589|PMID:27443694|PMID:27483487|PMID:27532107|PMID:27533707|PMID:27535533|PMID:27596108|PMID:27683759|PMID:27766062|PMID:27785872|PMID:2786201|PMID:27885890|PMID:27889474|PMID:27913545|PMID:27978591|PMID:28060120|PMID:28083987|PMID:28091443|PMID:28492532|PMID:28536718|PMID:28581694|PMID:28640903|PMID:28692141|PMID:28916584|PMID:28924049|PMID:28971901|PMID:29186156|PMID:29220693|PMID:29388750|PMID:29590070|PMID:29742318|PMID:29924503|PMID:29924855|PMID:29984440|PMID:30046704|PMID:30358069|PMID:30488424|PMID:30565388|PMID:30690834|PMID:30722078|PMID:30792900|PMID:30817071|PMID:31026269|PMID:31064749|PMID:31249928|PMID:3132965|PMID:31349985|PMID:31423628|PMID:31887760|PMID:31939074|PMID:31968368|PMID:32108991|PMID:32581362|PMID:3259690|PMID:32609846|PMID:32722784|PMID:33113216|PMID:33477601|PMID:33536631|PMID:33550700|PMID:33556167|PMID:34272389|PMID:34355501|PMID:34596727|PMID:34708896|PMID:34758185|PMID:34828413|PMID:3487353|PMID:3488775|PMID:6426499|PMID:6696046|PMID:6767976|PMID:6773982|PMID:7620154|PMID:7734373|PMID:7789955|PMID:7906590|PMID:8088787|PMID:8134377|PMID:8435341|PMID:8456431|PMID:8456432|PMID:8486782 12180096 VWF von Willebrand factor gene DOID:0060574 von Willebrand's disease 2 ISO RGD:1347936 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: VON WILLEBRAND FACTOR POLYMORPHISM | ClinVar Annotator: match by term: Von Willebrand disease type 2A | ClinVar Annotator: match by term: Von Willebrand disease type 2B | ClinVar Annotator: match by term: von Willebrand disease type 2 | ClinVar Annotator: match by term: von Willebrand disease type 2M | ClinVar Annotator: match by term: von Willebrand disease type 2N PMID:8500791|PMID:8562925|PMID:8621553|PMID:8622978|PMID:8630394|PMID:8839833|PMID:8865541|PMID:8865544|PMID:9058716|PMID:9108394|PMID:9198195|PMID:9308766|PMID:9569179|PMID:9684781|PMID:9723578 12180096 VWF von Willebrand factor gene DOID:0060574 von Willebrand's disease 2 treatment ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:20589313|REF_RGD_ID:11079203 12180096 VWF von Willebrand factor gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1347936 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12180096 VWF von Willebrand factor gene DOID:0060903 thrombosis ISO RGD:1347936 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombus PMID:12649144|PMID:14525793|PMID:15755288|PMID:15842375|PMID:16985174|PMID:17080221|PMID:17119126|PMID:17190853|PMID:18162126|PMID:18510569|PMID:19506354|PMID:20409624|PMID:20682599|PMID:21346256|PMID:22197721|PMID:23355534|PMID:23426949|PMID:24033266|PMID:24928861|PMID:25103891|PMID:25741868|PMID:25780857|PMID:26467025|PMID:27380589|PMID:27596108|PMID:28091443|PMID:28971901|PMID:30722078|PMID:30817071|PMID:31887760|PMID:31968368|PMID:32108991|PMID:32609846|PMID:33113216|PMID:33477601|PMID:33536631|PMID:34355501|PMID:34596727|PMID:34708896|PMID:34828413 12180096 VWF von Willebrand factor gene DOID:0111054 von Willebrand's disease 3 ISO RGD:1347936 D RGD:7240710 20180130 OMIM 12180096 VWF von Willebrand factor gene DOID:0111054 von Willebrand's disease 3 ISO RGD:1347936 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: von Willebrand disease type 3 PMID:10959712|PMID:11057846|PMID:12588349|PMID:1301136|PMID:1302613|PMID:1415226|PMID:16115133|PMID:16321553|PMID:16643449|PMID:16894469|PMID:16985174|PMID:17080221|PMID:17190853|PMID:17296575|PMID:18315546|PMID:18344424|PMID:18485763|PMID:18805962|PMID:18841300|PMID:19372260|PMID:19404524|PMID:19431182|PMID:19506361|PMID:19566550|PMID:19624459|PMID:20147343|PMID:20231421|PMID:20492463|PMID:20851871|PMID:21251206|PMID:21362127|PMID:21371195|PMID:21410641|PMID:21534937|PMID:21711445|PMID:22102201|PMID:22102206|PMID:22197721|PMID:22315491|PMID:22431572|PMID:22871923|PMID:22995991|PMID:23179108|PMID:23216583|PMID:23311757|PMID:23340442|PMID:23354996|PMID:23407766|PMID:23636243|PMID:23647798|PMID:23690449|PMID:23702511|PMID:23775583|PMID:23777763|PMID:23834637|PMID:23886775|PMID:24033266|PMID:24675615|PMID:24712919|PMID:24954083|PMID:25741868|PMID:25779970|PMID:26270243|PMID:26467025|PMID:26986123|PMID:26988807|PMID:27007659|PMID:28492532|PMID:28971901|PMID:29220693|PMID:29423401|PMID:29590070|PMID:30488424|PMID:30690834|PMID:31026269|PMID:31064749|PMID:32581362|PMID:32722784|PMID:33550700|PMID:33556167|PMID:34298581|PMID:34355501|PMID:34758185|PMID:35505650|PMID:7989040|PMID:8134377|PMID:8165603|PMID:8367445|PMID:8562925|PMID:9569178 12180096 VWF von Willebrand factor gene DOID:10159 osteonecrosis ISO RGD:1347936 D RGD:9068941 20200625 RGD associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) PMID:16547717|REF_RGD_ID:30309948 12180096 VWF von Willebrand factor gene DOID:10763 hypertension ISO RGD:1347936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12149661|PMID:12425201|PMID:22352330 12180096 VWF von Willebrand factor gene DOID:10763 hypertension treatment ISO RGD:621759 D RGD:9068941 20200609 RGD associated with Experimental Diabetes Mellitus PMID:14737039|REF_RGD_ID:1601646 12180096 VWF von Willebrand factor gene DOID:10941 intracranial aneurysm ISO RGD:1347936 D RGD:9068941 20230202 RGD protein:increased expression:serum, artery PMID:32602008|REF_RGD_ID:155882593 12180096 VWF von Willebrand factor gene DOID:12134 factor VIII deficiency ISO RGD:1347936 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Factor VIII deficiency, congenital PMID:25741868 12180096 VWF von Willebrand factor gene DOID:12134 factor VIII deficiency treatment ISO RGD:1553644 D RGD:9068941 20200609 RGD PMID:25955153|REF_RGD_ID:11073776 12180096 VWF von Willebrand factor gene DOID:1247 blood coagulation disease ISO RGD:1347936 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of coagulation PMID:11686103|PMID:12176890|PMID:12211196|PMID:1419803|PMID:15041272|PMID:15461624|PMID:1557393|PMID:15670054|PMID:1581215|PMID:16115133|PMID:16321553|PMID:16706266|PMID:1672694|PMID:16953269|PMID:16985174|PMID:17190853|PMID:1832934|PMID:18712522|PMID:1906877|PMID:1918030|PMID:19506353|PMID:19740526|PMID:2010538|PMID:20301765|PMID:20409624|PMID:20586924|PMID:20981092|PMID:21371195|PMID:21534937|PMID:22077376|PMID:22197721|PMID:22507569|PMID:22875612|PMID:23426949|PMID:23636243|PMID:23648131|PMID:23819767|PMID:24029428|PMID:24033266|PMID:24928861|PMID:25662333|PMID:25741868|PMID:26207643|PMID:26467025|PMID:26764160|PMID:27029718|PMID:27320760|PMID:27913545|PMID:28581694|PMID:28916584|PMID:28971901|PMID:29590070|PMID:29924855|PMID:30046704|PMID:30565388|PMID:30690834|PMID:30722078|PMID:31064749|PMID:31249928|PMID:31349985|PMID:33556167|PMID:34355501|PMID:6773982|PMID:8456432|PMID:8500791|PMID:8630394|PMID:8865544|PMID:9684781|PMID:9723578 12180096 VWF von Willebrand factor gene DOID:12531 von Willebrand's disease ISO RGD:1347936 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: von Willebrand disorder | ClinVar Annotator: match by term: von Willebrand's disease PMID:10669167|PMID:10845912|PMID:10959712|PMID:11057846|PMID:11150026|PMID:11159522|PMID:11325649|PMID:11583318|PMID:11686103|PMID:11686104|PMID:11756169|PMID:11776047|PMID:11843298|PMID:12043692|PMID:12080112|PMID:12176890|PMID:12211196|PMID:12551832|PMID:12649144|PMID:12737944|PMID:1301136|PMID:1302613|PMID:1324533|PMID:1380739|PMID:1415226|PMID:1419803|PMID:14525793|PMID:14613933|PMID:15041272|PMID:15226181|PMID:15249683|PMID:15297300|PMID:1537829|PMID:15461624|PMID:1557393|PMID:15670054|PMID:15755288|PMID:1581215|PMID:15842375|PMID:16115133|PMID:16221672|PMID:16246252|PMID:16247740|PMID:16321553|PMID:16322474|PMID:16706266|PMID:1672694|PMID:1673047|PMID:16870550|PMID:16889557|PMID:16925796|PMID:16953269|PMID:16985174|PMID:17000885|PMID:17080221|PMID:17087728|PMID:17119126|PMID:17155947|PMID:17190853|PMID:17200787|PMID:17296575|PMID:1729889|PMID:17408416|PMID:1761120|PMID:17681836|PMID:18036186|PMID:18162126|PMID:18230755|PMID:18315546|PMID:18315556|PMID:1832934|PMID:18344424|PMID:18384353|PMID:18449422|PMID:18485763|PMID:18510569|PMID:18712522|PMID:18805962|PMID:18841300|PMID:18986390|PMID:19060241|PMID:1906179|PMID:1906877|PMID:1918030|PMID:19277422|PMID:19372260|PMID:19404524|PMID:19470641|PMID:19506353|PMID:19506354|PMID:19506361|PMID:19566550|PMID:19630771|PMID:19630772|PMID:19687512|PMID:19740526|PMID:19951969|PMID:2010538|PMID:20118404|PMID:20147343|PMID:2018834|PMID:20230424|PMID:20231421|PMID:20301765|PMID:20305138|PMID:20345715|PMID:20351307|PMID:20371742|PMID:20409624|PMID:20418283|PMID:20492463|PMID:20586924|PMID:20590881|PMID:20682599|PMID:20713003|PMID:20838735|PMID:20981092|PMID:2104761|PMID:21251206|PMID:21346256|PMID:21362127|PMID:21371195|PMID:21393328|PMID:21410641|PMID:21429375|PMID:21534937|PMID:21711445|PMID:21794096|PMID:21967679|PMID:22077376|PMID:22102201|PMID:22102206|PMID:22197721|PMID:22315491|PMID:22329792|PMID:22372972|PMID:22431572|PMID:22473027|PMID:22507569|PMID:22537243|PMID:22578129|PMID:22871923|PMID:22875612|PMID:22995991|PMID:23110044|PMID:23179108|PMID:23216583|PMID:23311757|PMID:23322777|PMID:23335371|PMID:23340442|PMID:23349392|PMID:23354996|PMID:23355534|PMID:23406206|PMID:23407766|PMID:23426949|PMID:23520336|PMID:23636243|PMID:23647798|PMID:23648131|PMID:23690449|PMID:23702511|PMID:23775583|PMID:23819767|PMID:23834637|PMID:2385594|PMID:23886775|PMID:24029428|PMID:24033266|PMID:24351655|PMID:24385719|PMID:24482836|PMID:24598842|PMID:24675615|PMID:24712919|PMID:24800796|PMID:24928861|PMID:25051961|PMID:25103891|PMID:25185554|PMID:25293780|PMID:25431025|PMID:25477497|PMID:25662333|PMID:25689060|PMID:25690668|PMID:25696906|PMID:25741868|PMID:25753785|PMID:25779970|PMID:25780857|PMID:25851809|PMID:26200876|PMID:26206100|PMID:26207643|PMID:26210168|PMID:26345337|PMID:26456374|PMID:26467025|PMID:26764160|PMID:26827609|PMID:26879396|PMID:26917779|PMID:26986123|PMID:26988807|PMID:27029718|PMID:27214365|PMID:27317792|PMID:27320760|PMID:27353798|PMID:27380589|PMID:27443694|PMID:27483487|PMID:27532107|PMID:27533707|PMID:27596108|PMID:27683759|PMID:27766062|PMID:27785872|PMID:2786201|PMID:27885890|PMID:27889474|PMID:27913545|PMID:27978591|PMID:28060120|PMID:28083987|PMID:28091443|PMID:28492532|PMID:28536718|PMID:28581694|PMID:28640903|PMID:28692141|PMID:28916584|PMID:28924049|PMID:28971901|PMID:29186156|PMID:29388750|PMID:29423401|PMID:29742318|PMID:29924503|PMID:29924855|PMID:29984440|PMID:30046704|PMID:30358069|PMID:30488424|PMID:30565388|PMID:30690834|PMID:30722078|PMID:30792900|PMID:30817071|PMID:31026269|PMID:31064749|PMID:31249928|PMID:31349985|PMID:31887760|PMID:31939074|PMID:31968368|PMID:32108991|PMID:3257148|PMID:32581362|PMID:3259690|PMID:32609846|PMID:32935436|PMID:33113216|PMID:33477601|PMID:33536631|PMID:33550700|PMID:33556167|PMID:33618961|PMID:33807613|PMID:34272389|PMID:34355501|PMID:34596727|PMID:34662354|PMID:34708896|PMID:34714369|PMID:34828413|PMID:3487353|PMID:3488775|PMID:35505650|PMID:6696046|PMID:6773982|PMID:7620154|PMID:7734373|PMID:7906590|PMID:8088787|PMID:8134377 12180096 VWF von Willebrand factor gene DOID:12531 von Willebrand's disease ISO RGD:1347936 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: von Willebrand disorder | ClinVar Annotator: match by term: von Willebrand's disease PMID:8165603|PMID:8367445|PMID:8456430|PMID:8456431|PMID:8456432|PMID:8486782|PMID:8500791|PMID:8562925|PMID:8621553|PMID:8630394|PMID:8865541|PMID:8865544|PMID:9058716|PMID:9198195|PMID:9253800|PMID:9308766|PMID:9473222|PMID:9684781|PMID:9723578 12180096 VWF von Willebrand factor gene DOID:12531 von Willebrand's disease treatment ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:26239086|REF_RGD_ID:11079196 12180096 VWF von Willebrand factor gene DOID:1287 cardiovascular system disease ISO RGD:1347936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16332659 12180096 VWF von Willebrand factor gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:22295953|REF_RGD_ID:7207031 12180096 VWF von Willebrand factor gene DOID:13241 Behcet's disease ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:15849757|REF_RGD_ID:1580642 12180096 VWF von Willebrand factor gene DOID:13809 familial combined hyperlipidemia ISO RGD:1347936 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:18417194|REF_RGD_ID:13207412 12180096 VWF von Willebrand factor gene DOID:1588 thrombocytopenia ISO RGD:1347936 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:16985174|PMID:18315556|PMID:19506361|PMID:25741868|PMID:31064749 12180096 VWF von Willebrand factor gene DOID:2213 hemorrhagic disease ISO RGD:1347936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10845912|PMID:11686103|PMID:11776047|PMID:12176890|PMID:12211196|PMID:1301136|PMID:1302613|PMID:15461624|PMID:15670054|PMID:1581215|PMID:16706266|PMID:16953269|PMID:16985174|PMID:17087728|PMID:17190853|PMID:17200787|PMID:17681836|PMID:18230755|PMID:18315556|PMID:1832934|PMID:18384353|PMID:18712522|PMID:18805962|PMID:1906179|PMID:1906877|PMID:1918030|PMID:19277422|PMID:19404524|PMID:19566550|PMID:19951969|PMID:2018834|PMID:20301765|PMID:20409624|PMID:20586924|PMID:20981092|PMID:2104761|PMID:21371195|PMID:21429375|PMID:22197721|PMID:22315491|PMID:22329792|PMID:22578129|PMID:22875612|PMID:23340442|PMID:23349392|PMID:23426949|PMID:23636243|PMID:23648131|PMID:24029428|PMID:24033266|PMID:24700780|PMID:24928861|PMID:25185554|PMID:25696906|PMID:25741868|PMID:26200876|PMID:26207643|PMID:26467025|PMID:26764160|PMID:26879396|PMID:26986123|PMID:26988807|PMID:27320760|PMID:27443694|PMID:27483487|PMID:28581694|PMID:28971901|PMID:29924855|PMID:30358069|PMID:31064749|PMID:31249928|PMID:31349985|PMID:32935436|PMID:34272389|PMID:34355501|PMID:34662354|PMID:7620154|PMID:7734373|PMID:8165603|PMID:8367445|PMID:8500791|PMID:8865544|PMID:9684781 12180096 VWF von Willebrand factor gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:14717981|REF_RGD_ID:1580643 12180096 VWF von Willebrand factor gene DOID:2224 essential thrombocythemia ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:25876231|REF_RGD_ID:11073823 12180096 VWF von Willebrand factor gene DOID:224 transient cerebral ischemia treatment ISO RGD:621759 D RGD:9068941 20200609 RGD PMID:22771326|REF_RGD_ID:7207039 12180096 VWF von Willebrand factor gene DOID:2945 severe acute respiratory syndrome ISO RGD:1553644 D RGD:9068941 20200625 RGD protein:increased expression:lung (mouse) PMID:23919993|REF_RGD_ID:30310231 12180096 VWF von Willebrand factor gene DOID:3312 bipolar disorder ISO RGD:1347936 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19839997|REF_RGD_ID:7207027 12180096 VWF von Willebrand factor gene DOID:3407 carotid artery disease ISO RGD:1347936 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:20439183|REF_RGD_ID:7207026 12180096 VWF von Willebrand factor gene DOID:3770 pulmonary fibrosis ISO RGD:621759 D RGD:9068941 20200609 RGD associated with Radiation Injuries;protein:increased expression:lung parenchyma PMID:8811296|REF_RGD_ID:11079207 12180096 VWF von Willebrand factor gene DOID:418 systemic scleroderma severity ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:22596213|REF_RGD_ID:7205639 12180096 VWF von Willebrand factor gene DOID:4193 intracranial thrombosis ISO RGD:1347936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3111251 12180096 VWF von Willebrand factor gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1347936 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21953673|REF_RGD_ID:7207032 12180096 VWF von Willebrand factor gene DOID:4783 mesangial proliferative glomerulonephritis ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus: PMID:10450036|REF_RGD_ID:11079208 12180096 VWF von Willebrand factor gene DOID:5419 schizophrenia ISO RGD:1347936 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19839997|REF_RGD_ID:7207027 12180096 VWF von Willebrand factor gene DOID:5844 myocardial infarction ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:heart: PMID:19435557|REF_RGD_ID:11080745 12180096 VWF von Willebrand factor gene DOID:6000 congestive heart failure ISO RGD:1347936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 12180096 VWF von Willebrand factor gene DOID:630 genetic disease ISO RGD:1347936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12649144|PMID:1324533|PMID:14525793|PMID:15755288|PMID:15842375|PMID:16322474|PMID:16985174|PMID:17080221|PMID:17119126|PMID:17190853|PMID:18162126|PMID:18510569|PMID:18986390|PMID:19277422|PMID:19506354|PMID:20409624|PMID:20492463|PMID:20682599|PMID:21346256|PMID:22197721|PMID:22372972|PMID:22871923|PMID:23322777|PMID:23355534|PMID:23426949|PMID:24033266|PMID:24928861|PMID:25103891|PMID:25741868|PMID:25780857|PMID:26467025|PMID:27214365|PMID:27380589|PMID:27596108|PMID:27766062|PMID:2786201|PMID:28091443|PMID:28971901|PMID:29186156|PMID:30722078|PMID:30817071|PMID:31026269|PMID:31064749|PMID:31887760|PMID:31968368|PMID:32108991|PMID:32609846|PMID:33113216|PMID:33477601|PMID:33536631|PMID:34355501|PMID:34596727|PMID:34708896|PMID:34828413|PMID:8456431 12180096 VWF von Willebrand factor gene DOID:6432 pulmonary hypertension ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:14507115|REF_RGD_ID:1580645 12180096 VWF von Willebrand factor gene DOID:783 end stage renal disease ISO RGD:1347936 D RGD:9068941 20200609 RGD protein:increased oxidation:plasma PMID:22091998|REF_RGD_ID:7205646 12180096 VWF von Willebrand factor gene DOID:783 end stage renal disease disease_progression ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:22189209|REF_RGD_ID:7205641 12180096 VWF von Willebrand factor gene DOID:783 end stage renal disease treatment ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:21378155|REF_RGD_ID:7205649 12180096 VWF von Willebrand factor gene DOID:8947 diabetic retinopathy ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:10077454|REF_RGD_ID:1580648 12180096 VWF von Willebrand factor gene DOID:9000039 Spinal Cord Injuries ISO RGD:621759 D RGD:9068941 20200609 RGD PMID:25771801|REF_RGD_ID:13673888 12180096 VWF von Willebrand factor gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:10997 D RGD:9068941 20200609 RGD PMID:20439183|REF_RGD_ID:7207026 12180096 VWF von Willebrand factor gene DOID:9000326 Thrombotic Microangiopathies disease_progression ISO RGD:1347936 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21153061|REF_RGD_ID:7205650 12180096 VWF von Willebrand factor gene DOID:9000528 Coronary Disease ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:11864703|REF_RGD_ID:1580647 12180096 VWF von Willebrand factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28527913 12180096 VWF von Willebrand factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:7531171|REF_RGD_ID:11079232 12180096 VWF von Willebrand factor gene DOID:9001708 Hemorrhagic Shock ISO RGD:621759 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:15748447|REF_RGD_ID:10450768 12180096 VWF von Willebrand factor gene DOID:9002448 Thrombotic Thrombocytopenic Purpura, Acquired treatment ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:26863353|REF_RGD_ID:11079195 12180096 VWF von Willebrand factor gene DOID:9003505 Venous Thromboembolism ISO RGD:1347936 D RGD:9068941 20200609 RGD associated with Glomerulosclerosis, Focal Segmental PMID:22295953|REF_RGD_ID:7207031 12180096 VWF von Willebrand factor gene DOID:9005307 Bone Marrow Failure Syndrome 3 ISO RGD:1347936 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bone marrow failure syndrome 3 PMID:25741868|PMID:26467025 12180096 VWF von Willebrand factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17546272|REF_RGD_ID:1625712 12180096 VWF von Willebrand factor gene DOID:9005930 Endotoxemia ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell: PMID:2650559|REF_RGD_ID:11079230 12180096 VWF von Willebrand factor gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:12684225|REF_RGD_ID:11080744 12180096 VWF von Willebrand factor gene DOID:9006262 Cytomegalovirus Infections ISO RGD:1347936 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:23593305|REF_RGD_ID:38508895 12180096 VWF von Willebrand factor gene DOID:9006646 Metabolic Syndrome ISO RGD:1347936 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16764036|REF_RGD_ID:1625709 12180096 VWF von Willebrand factor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28527913 12180096 VWF von Willebrand factor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:7531171|REF_RGD_ID:11079232 12180096 VWF von Willebrand factor gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:17708840|REF_RGD_ID:11079229 12180096 VWF von Willebrand factor gene DOID:9007584 Von Willebrand Factor, Deficiency ISO RGD:1347936 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Reduced von Willebrand factor activity PMID:10669167|PMID:11756169|PMID:12043692|PMID:14613933|PMID:16870550|PMID:16889557|PMID:16925796|PMID:17080221|PMID:18230755|PMID:21346256|PMID:23647798|PMID:25741868|PMID:26467025|PMID:26986123|PMID:31064749|PMID:3257148|PMID:32581362|PMID:34355501|PMID:8456430|PMID:9253800 12180096 VWF von Willebrand factor gene DOID:9007692 Insulin Resistance ISO RGD:1347936 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16631442|REF_RGD_ID:1625711 12180096 VWF von Willebrand factor gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:10365842|REF_RGD_ID:11080742 12180096 VWF von Willebrand factor gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1347936 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 12180096 VWF von Willebrand factor gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1347936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12180096 VWF von Willebrand factor gene DOID:9008752 Aortic Injuries ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell: PMID:2650559|REF_RGD_ID:11079230 12180096 VWF von Willebrand factor gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:9790822|REF_RGD_ID:11080743 12180096 VWF von Willebrand factor gene DOID:9351 diabetes mellitus treatment ISO RGD:1553644 D RGD:9068941 20200609 RGD PMID:19722571|REF_RGD_ID:7207029 12180096 VWF von Willebrand factor gene DOID:9744 type 1 diabetes mellitus ISO RGD:621759 D RGD:9068941 20200609 RGD PMID:10729383|REF_RGD_ID:13673887 12180096 VWF von Willebrand factor gene DOID:9970 obesity ISO RGD:1347936 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma PMID:16739871|REF_RGD_ID:1625710 12180096 VWF von Willebrand factor gene DOID:9970 obesity ISO RGD:1347936 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16631442|REF_RGD_ID:1625711 12180152 RNF38 ring finger protein 38 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:737292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12180152 RNF38 ring finger protein 38 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:737292 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12180152 RNF38 ring finger protein 38 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:737292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12180152 RNF38 ring finger protein 38 gene DOID:630 genetic disease ISO RGD:737292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180152 RNF38 ring finger protein 38 gene DOID:9562 primary ciliary dyskinesia ISO RGD:737292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12180152 RNF38 ring finger protein 38 gene DOID:9870 galactosemia ISO RGD:737292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12180195 DYNC1I1 dynein cytoplasmic 1 intermediate chain 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12180195 DYNC1I1 dynein cytoplasmic 1 intermediate chain 1 gene DOID:574 peripheral nervous system disease ISO RGD:734329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21228734 12180195 DYNC1I1 dynein cytoplasmic 1 intermediate chain 1 gene DOID:630 genetic disease ISO RGD:734329 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12180225 ACSS3 acyl-CoA synthetase short chain family member 3 gene DOID:630 genetic disease ISO RGD:1603012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180245 RIC8A RIC8 guanine nucleotide exchange factor A gene DOID:630 genetic disease ISO RGD:1604802 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180245 RIC8A RIC8 guanine nucleotide exchange factor A gene DOID:9008939 Breast Neoplasms ISO RGD:1604802 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12180258 SAP130 Sin3A associated protein 130 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1606502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 12180258 SAP130 Sin3A associated protein 130 gene DOID:1682 congenital heart disease ISO RGD:1332063 D RGD:9068941 20220825 MouseDO 12180258 SAP130 Sin3A associated protein 130 gene DOID:630 genetic disease ISO RGD:1606502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180258 SAP130 Sin3A associated protein 130 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1332063 D RGD:9068941 20220825 MouseDO OMIM:241550 | OMIM:614435 12180258 SAP130 Sin3A associated protein 130 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1606502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28530678 12180289 PIGN phosphatidylinositol glycan anchor biosynthesis class N gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1322753 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12180289 PIGN phosphatidylinositol glycan anchor biosynthesis class N gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1322753 D RGD:7240710 20180130 OMIM 12180289 PIGN phosphatidylinositol glycan anchor biosynthesis class N gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1322753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:16199547|PMID:17576681|PMID:18606301|PMID:21493957|PMID:22271396|PMID:24033266|PMID:24253414|PMID:24852103|PMID:25640679|PMID:25741868|PMID:26364997|PMID:26394714|PMID:26419326|PMID:26467025|PMID:26539891|PMID:26633542|PMID:26879448|PMID:26964041|PMID:27038415|PMID:27891564|PMID:28273706|PMID:28327575|PMID:28492532|PMID:29096607|PMID:29330547|PMID:30293990|PMID:30609409|PMID:30665423|PMID:32220244|PMID:32860008|PMID:33193741|PMID:33619735|PMID:33763700|PMID:34051595|PMID:34426522|PMID:34782754|PMID:34906502|PMID:35468813|PMID:9536098 12180289 PIGN phosphatidylinositol glycan anchor biosynthesis class N gene DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome ISO RGD:1322753 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome PMID:16199547|PMID:24033266|PMID:24253414|PMID:25741868|PMID:26394714|PMID:27038415|PMID:28492532|PMID:30293990|PMID:30609409 12180289 PIGN phosphatidylinositol glycan anchor biosynthesis class N gene DOID:12859 choreatic disease IAGP D RGD:12801476 20230118 OMIA Dyskinesia, paroxysmal, PIGN-related PMID:27891564|PMID:15474685|PMID:28703446|PMID:33769611|PMID:36086931 12180289 PIGN phosphatidylinositol glycan anchor biosynthesis class N gene DOID:1826 epilepsy ISO RGD:1322753 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12180289 PIGN phosphatidylinositol glycan anchor biosynthesis class N gene DOID:3910 lung adenocarcinoma ISO RGD:1322753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12180289 PIGN phosphatidylinositol glycan anchor biosynthesis class N gene DOID:4621 holoprosencephaly ISO RGD:1322754 D RGD:9068941 20220825 MouseDO 12180289 PIGN phosphatidylinositol glycan anchor biosynthesis class N gene DOID:5419 schizophrenia ISO RGD:1322753 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12180289 PIGN phosphatidylinositol glycan anchor biosynthesis class N gene DOID:630 genetic disease ISO RGD:1322753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:24033266|PMID:24253414|PMID:25741868|PMID:26394714|PMID:26467025|PMID:26633542|PMID:26879448|PMID:26964041|PMID:27038415|PMID:28327575|PMID:28492532|PMID:30293990|PMID:30609409|PMID:32220244|PMID:33619735 12180289 PIGN phosphatidylinositol glycan anchor biosynthesis class N gene DOID:9006205 Animal Disease Models ISO RGD:1322753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12180333 SLC6A11 solute carrier family 6 member 11 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:732372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 12180333 SLC6A11 solute carrier family 6 member 11 gene DOID:11832 visual epilepsy ISO RGD:628737 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:17408599|REF_RGD_ID:1643196 12180333 SLC6A11 solute carrier family 6 member 11 gene DOID:1909 melanoma ISO RGD:732372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 12180333 SLC6A11 solute carrier family 6 member 11 gene DOID:630 genetic disease ISO RGD:732372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180333 SLC6A11 solute carrier family 6 member 11 gene DOID:9004009 Reperfusion Injury ISO RGD:628737 D RGD:9068941 20200609 RGD PMID:13678673|REF_RGD_ID:1299345 12180333 SLC6A11 solute carrier family 6 member 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12180333 SLC6A11 solute carrier family 6 member 11 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:732372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12180351 GADD45GIP1 GADD45G interacting protein 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1319487 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12180351 GADD45GIP1 GADD45G interacting protein 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1319487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12180351 GADD45GIP1 GADD45G interacting protein 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1319487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12180351 GADD45GIP1 GADD45G interacting protein 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1319487 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12180351 GADD45GIP1 GADD45G interacting protein 1 gene DOID:630 genetic disease ISO RGD:1319487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180351 GADD45GIP1 GADD45G interacting protein 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1319488 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 12180357 MAGOHB mago homolog B, exon junction complex subunit gene DOID:5119 ovarian cyst ISO RGD:1602707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12180357 MAGOHB mago homolog B, exon junction complex subunit gene DOID:630 genetic disease ISO RGD:1602707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180369 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1342584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:10944442|PMID:15269216|PMID:19364667|PMID:22033105|PMID:22200994|PMID:25741868|PMID:28492532|PMID:31292494|PMID:31386302|PMID:32860008 12180369 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:0080600 COVID-19 ISO RGD:1342584 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12180369 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1342584 D RGD:7240710 20190213 OMIM 12180369 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1342584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:10944442|PMID:11181577|PMID:12616398|PMID:12944388|PMID:14765537|PMID:15269216|PMID:17383918|PMID:19107570|PMID:19364667|PMID:20818383|PMID:22033105|PMID:22200994|PMID:22326555|PMID:24020637|PMID:25741868|PMID:28492532|PMID:30634555|PMID:31292494|PMID:31386302|PMID:32860008|PMID:33093004|PMID:34849584|PMID:9463323 12180369 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:14330 Parkinson's disease ISO RGD:1556886 D RGD:9068941 20200609 RGD PMID:21383081|REF_RGD_ID:6484691 12180369 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:3650 lactic acidosis ISO RGD:1342584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lactic acidosis PMID:25741868|PMID:33093004 12180369 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:3652 Leigh disease ISO RGD:1342584 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:10944442|PMID:11112787|PMID:12616398|PMID:12944388|PMID:14765537|PMID:15269216|PMID:16213125|PMID:17383918|PMID:18804471|PMID:19107570|PMID:19364667|PMID:20818383|PMID:22033105|PMID:22200994|PMID:22326555|PMID:24020637|PMID:25741868|PMID:27079373|PMID:28492532|PMID:30634555|PMID:32860008|PMID:34849584|PMID:9463323 12180369 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:3652 Leigh disease ISO RGD:1342584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:10944442|PMID:11112787|PMID:12616398|PMID:12944388|PMID:14765537|PMID:15269216|PMID:16213125|PMID:17383918|PMID:18804471|PMID:19107570|PMID:19364667|PMID:20818383|PMID:22033105|PMID:22200994|PMID:22326555|PMID:24020637|PMID:25741868|PMID:27079373|PMID:28492532|PMID:30634555|PMID:31292494|PMID:31386302|PMID:32860008|PMID:34849584|PMID:9463323 12180369 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:630 genetic disease ISO RGD:1342584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11165261|PMID:19107570|PMID:19364667|PMID:20433953|PMID:20818383|PMID:24020637|PMID:25741868|PMID:28492532|PMID:28844695 12180369 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12180369 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:1556886 D RGD:9068941 20200609 RGD PMID:18396137|REF_RGD_ID:6484689 12180369 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:936 brain disease ISO RGD:1342584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24935635 12180369 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:9923 developmental coordination disorder ISO RGD:1342584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24935635 12180381 MIB2 MIB E3 ubiquitin protein ligase 2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1349487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12180381 MIB2 MIB E3 ubiquitin protein ligase 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1349487 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12180381 MIB2 MIB E3 ubiquitin protein ligase 2 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1349487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12180381 MIB2 MIB E3 ubiquitin protein ligase 2 gene DOID:0080600 COVID-19 ISO RGD:1349487 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12180381 MIB2 MIB E3 ubiquitin protein ligase 2 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1349487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12180381 MIB2 MIB E3 ubiquitin protein ligase 2 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1349487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12180381 MIB2 MIB E3 ubiquitin protein ligase 2 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1349487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12180381 MIB2 MIB E3 ubiquitin protein ligase 2 gene DOID:0111934 immunodeficiency 38 ISO RGD:1349487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12180381 MIB2 MIB E3 ubiquitin protein ligase 2 gene DOID:0111935 immunodeficiency 16 ISO RGD:1349487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12180381 MIB2 MIB E3 ubiquitin protein ligase 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1349487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12180381 MIB2 MIB E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1349487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180381 MIB2 MIB E3 ubiquitin protein ligase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12180381 MIB2 MIB E3 ubiquitin protein ligase 2 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1349487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12180381 MIB2 MIB E3 ubiquitin protein ligase 2 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1349487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12180425 CDH15 cadherin 15 gene DOID:0070033 autosomal dominant intellectual developmental disorder 3 ISO RGD:1353127 D RGD:7240710 20180130 OMIM 12180425 CDH15 cadherin 15 gene DOID:0070033 autosomal dominant intellectual developmental disorder 3 ISO RGD:1353127 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 3 PMID:18414213|PMID:19012874|PMID:25741868|PMID:28492532 12180425 CDH15 cadherin 15 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1353127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12180425 CDH15 cadherin 15 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1353127 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12180425 CDH15 cadherin 15 gene DOID:1059 intellectual disability ISO RGD:1353127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12180425 CDH15 cadherin 15 gene DOID:11612 polycystic ovary syndrome ISO RGD:1353127 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12180425 CDH15 cadherin 15 gene DOID:14780 KBG syndrome ISO RGD:1353127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316|PMID:31690835 12180425 CDH15 cadherin 15 gene DOID:630 genetic disease ISO RGD:1353127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12180425 CDH15 cadherin 15 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1353127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12180442 ENOX2 ecto-NOX disulfide-thiol exchanger 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12180442 ENOX2 ecto-NOX disulfide-thiol exchanger 2 gene DOID:12849 autistic disorder ISO RGD:1345108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12180442 ENOX2 ecto-NOX disulfide-thiol exchanger 2 gene DOID:14566 disease of cellular proliferation ISO RGD:1345108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20518072 12180442 ENOX2 ecto-NOX disulfide-thiol exchanger 2 gene DOID:1790 malignant mesothelioma ISO RGD:1345108 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26807072 12180442 ENOX2 ecto-NOX disulfide-thiol exchanger 2 gene DOID:630 genetic disease ISO RGD:1345108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180477 KLF4 KLF transcription factor 4 gene DOID:0060903 thrombosis ISO RGD:1342656 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25339356 12180477 KLF4 KLF transcription factor 4 gene DOID:0080600 COVID-19 ISO RGD:1342656 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12180477 KLF4 KLF transcription factor 4 gene DOID:1682 congenital heart disease ISO RGD:1342656 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20439457 12180477 KLF4 KLF transcription factor 4 gene DOID:630 genetic disease ISO RGD:1342656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180477 KLF4 KLF transcription factor 4 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1342656 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12180477 KLF4 KLF transcription factor 4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1342656 D RGD:9068941 20200609 RGD PMID:22677193|REF_RGD_ID:14402023 12180477 KLF4 KLF transcription factor 4 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1342656 D RGD:9068941 20200609 RGD PMID:22677193|REF_RGD_ID:14402023 12180477 KLF4 KLF transcription factor 4 gene DOID:9005835 Congenital Abnormalities ISO RGD:1342656 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20439457 12180477 KLF4 KLF transcription factor 4 gene DOID:9006182 Carotid Artery Injuries ameliorates ISO RGD:621445 D RGD:9068941 20220922 RGD PMID:29127880|REF_RGD_ID:155230825 12180477 KLF4 KLF transcription factor 4 gene DOID:9007102 Myocardial Ischemia ISO RGD:1342656 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12180486 RAG2 recombination activating 2 gene DOID:0060010 Omenn syndrome ISO RGD:1313706 D RGD:7240710 20180130 OMIM 12180486 RAG2 recombination activating 2 gene DOID:0060012 recombinase activating gene 2 deficiency ISO RGD:1313706 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Recombinase activating gene 2 deficiency PMID:20234091|PMID:25741868|PMID:28492532|PMID:29772310 12180486 RAG2 recombination activating 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1313706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24211274 12180486 RAG2 recombination activating 2 gene DOID:0080915 histiocytic sarcoma ISO RGD:1313706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Histiocytic medullary reticulosis PMID:10777560|PMID:10891502|PMID:11133745|PMID:11138625|PMID:11313270|PMID:12200379|PMID:15025726|PMID:16960852|PMID:17572155|PMID:18025461|PMID:18033247|PMID:18682256|PMID:19178939|PMID:19333736|PMID:19414857|PMID:19470080|PMID:19912631|PMID:20234091|PMID:20603253|PMID:21131235|PMID:21502542|PMID:21624848|PMID:21625022|PMID:22295088|PMID:22841008|PMID:23243423|PMID:23994475|PMID:24139496|PMID:24144642|PMID:24481607|PMID:25109802|PMID:25333069|PMID:25707801|PMID:25741868|PMID:25869295|PMID:26186701|PMID:26457731|PMID:26476733|PMID:26515615|PMID:26692406|PMID:26915675|PMID:28492532|PMID:28600779|PMID:28747913|PMID:28769923|PMID:29772310|PMID:30305145|PMID:30307608|PMID:30778343|PMID:8810255|PMID:9630231 12180486 RAG2 recombination activating 2 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1313706 D RGD:7240710 20180130 OMIM 12180486 RAG2 recombination activating 2 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1313706 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive PMID:10777560|PMID:10891502|PMID:11133745|PMID:11313270|PMID:15025726|PMID:16960852|PMID:17572155|PMID:19178939|PMID:19414857|PMID:20234091|PMID:21502542|PMID:21624848|PMID:22295088|PMID:23994475|PMID:24139496|PMID:24144642|PMID:24174341|PMID:25741868|PMID:25869295|PMID:26457731|PMID:26692406|PMID:27730413|PMID:28492532|PMID:28747913|PMID:28769923|PMID:29051008|PMID:29772310|PMID:30307608|PMID:30778343|PMID:31388879|PMID:32445296|PMID:32655540|PMID:8810255 12180486 RAG2 recombination activating 2 gene DOID:0112253 combined cellular and humoral immune defects with granulomas ISO RGD:1313706 D RGD:7240710 20180130 OMIM 12180486 RAG2 recombination activating 2 gene DOID:0112253 combined cellular and humoral immune defects with granulomas ISO RGD:1313706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas PMID:10777560|PMID:10891502|PMID:11133745|PMID:11138625|PMID:11313270|PMID:12200379|PMID:15025726|PMID:16960852|PMID:17572155|PMID:18025461|PMID:18033247|PMID:18463379|PMID:18682256|PMID:19178939|PMID:19333736|PMID:19414857|PMID:19763152|PMID:20234091|PMID:20307669|PMID:20603253|PMID:21131235|PMID:21184155|PMID:21502542|PMID:21624848|PMID:21625022|PMID:21664875|PMID:22295088|PMID:22406018|PMID:22841008|PMID:23243423|PMID:23994475|PMID:24139496|PMID:24144642|PMID:24174341|PMID:24290284|PMID:24331380|PMID:24481607|PMID:24996264|PMID:25109802|PMID:25333069|PMID:25707801|PMID:25739914|PMID:25741868|PMID:25842288|PMID:25869295|PMID:2618670|PMID:26186701|PMID:26457731|PMID:26476733|PMID:26515615|PMID:26692406|PMID:26915675|PMID:26996199|PMID:28492532|PMID:28600779|PMID:28747913|PMID:28769923|PMID:29051008|PMID:29658452|PMID:29772310|PMID:30305145|PMID:30307608|PMID:30778343|PMID:31031743|PMID:31058115|PMID:31334206|PMID:31388879|PMID:31838659|PMID:32445296|PMID:32531373|PMID:32581362|PMID:32655540|PMID:32888943|PMID:33505738|PMID:33628209|PMID:8810255|PMID:9630231 12180486 RAG2 recombination activating 2 gene DOID:1059 intellectual disability ISO RGD:1313706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12180486 RAG2 recombination activating 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1313706 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:18463379|PMID:21664875|PMID:24331380|PMID:24996264|PMID:25741868|PMID:26457731|PMID:26996199|PMID:28492532|PMID:29772310|PMID:31334206|PMID:31388879|PMID:32581362|PMID:32655540 12180486 RAG2 recombination activating 2 gene DOID:627 severe combined immunodeficiency ISO RGD:1313706 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:15025726|PMID:18463379|PMID:20603253|PMID:21131235|PMID:21664875|PMID:24174341|PMID:24331380|PMID:24481607|PMID:24996264|PMID:25109802|PMID:25333069|PMID:25741868|PMID:26457731|PMID:26476733|PMID:26515615|PMID:26996199|PMID:28492532|PMID:28747913|PMID:28769923|PMID:29051008|PMID:29772310|PMID:30307608|PMID:30778343|PMID:31334206|PMID:31388879|PMID:32581362|PMID:32655540 12180486 RAG2 recombination activating 2 gene DOID:630 genetic disease ISO RGD:1313706 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:33628209 12180486 RAG2 recombination activating 2 gene DOID:9000156 Metaplasia ISO RGD:1313706 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27315767 12180486 RAG2 recombination activating 2 gene DOID:9000795 Immunodeficiency 104 ISO RGD:1313706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 104 PMID:20603253|PMID:21131235|PMID:24481607|PMID:25741868|PMID:26476733|PMID:26515615|PMID:28492532|PMID:29772310 12180486 RAG2 recombination activating 2 gene DOID:9001371 Eosinophilia ISO RGD:1313706 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27315767 12180486 RAG2 recombination activating 2 gene DOID:9002457 Experimental Arthritis ISO RGD:1313706 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20974942 12180495 APLNR apelin receptor gene DOID:1059 intellectual disability ISO RGD:733537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12180495 APLNR apelin receptor gene DOID:630 genetic disease ISO RGD:733537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180495 APLNR apelin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:733538 D RGD:9068941 20200609 RGD protein:decreased expression:renal artery PMID:17692936|REF_RGD_ID:2313945 12180500 BATF2 basic leucine zipper ATF-like transcription factor 2 gene DOID:0080600 COVID-19 ISO RGD:1602989 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12180500 BATF2 basic leucine zipper ATF-like transcription factor 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12180500 BATF2 basic leucine zipper ATF-like transcription factor 2 gene DOID:1059 intellectual disability ISO RGD:1602989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12180500 BATF2 basic leucine zipper ATF-like transcription factor 2 gene DOID:1909 melanoma ISO RGD:1602989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12180500 BATF2 basic leucine zipper ATF-like transcription factor 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12180500 BATF2 basic leucine zipper ATF-like transcription factor 2 gene DOID:2746 glycogen storage disease V ISO RGD:1602989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12180500 BATF2 basic leucine zipper ATF-like transcription factor 2 gene DOID:3070 high grade glioma ISO RGD:1602989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12180500 BATF2 basic leucine zipper ATF-like transcription factor 2 gene DOID:630 genetic disease ISO RGD:1602989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180515 CYP2A13 cytochrome P450 family 2 subfamily A polypeptide 13 gene DOID:0060041 autism spectrum disorder ISO RGD:1352512 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12180515 CYP2A13 cytochrome P450 family 2 subfamily A polypeptide 13 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1352512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12180515 CYP2A13 cytochrome P450 family 2 subfamily A polypeptide 13 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1352512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12180515 CYP2A13 cytochrome P450 family 2 subfamily A polypeptide 13 gene DOID:2340 craniosynostosis ISO RGD:1352512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12180515 CYP2A13 cytochrome P450 family 2 subfamily A polypeptide 13 gene DOID:3910 lung adenocarcinoma ISO RGD:1352512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18669584 12180515 CYP2A13 cytochrome P450 family 2 subfamily A polypeptide 13 gene DOID:630 genetic disease ISO RGD:1352512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180515 CYP2A13 cytochrome P450 family 2 subfamily A polypeptide 13 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1352512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12180515 CYP2A13 cytochrome P450 family 2 subfamily A polypeptide 13 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731867 D RGD:9068941 20200813 CTD CTD Direct Evidence: therapeutic PMID:23628428 12180515 CYP2A13 cytochrome P450 family 2 subfamily A polypeptide 13 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1352512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26084420 12180515 CYP2A13 cytochrome P450 family 2 subfamily A polypeptide 13 gene DOID:9269 maple syrup urine disease ISO RGD:1352512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:0060180 colitis ISO RGD:708446 D RGD:9068941 20200609 RGD PMID:16399111|REF_RGD_ID:2307162 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:0080162 lupus nephritis disease_progression ISO RGD:732280 D RGD:9068941 20200609 RGD PMID:15153561|REF_RGD_ID:5688164 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:0080599 Coronavirus infectious disease ISO RGD:732280 D RGD:9068941 20220825 MouseDO 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1349625 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:0081267 graft-versus-host disease severity ISO RGD:732280 D RGD:9068941 20200609 RGD PMID:17641205|REF_RGD_ID:5688177 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:0110033 autosomal recessive Alport syndrome ISO RGD:732280 D RGD:9068941 20200609 RGD PMID:15716328|REF_RGD_ID:5688157 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:10533 viral pneumonia ISO RGD:732280 D RGD:9068941 20200609 RGD PMID:15254170|REF_RGD_ID:5688163 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:10652 Alzheimer's disease severity ISO RGD:1349625 D RGD:9068941 20200609 RGD PMID:14595653|REF_RGD_ID:5688166 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:1205 allergic disease ISO RGD:1349625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:12217 Lewy body dementia ISO RGD:1349625 D RGD:9068941 20200609 RGD PMID:14595653|REF_RGD_ID:5688166 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:732280 D RGD:9068941 20200609 RGD PMID:15951834|REF_RGD_ID:5688155 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:13241 Behcet's disease ISO RGD:1349625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291587 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:1407 anterior uveitis ISO RGD:708446 D RGD:9068941 20200609 RGD associated with Encephalomyelitis, Autoimmune, Experimental PMID:11687534|REF_RGD_ID:5688173 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:2773 contact dermatitis ISO RGD:1349625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:2841 asthma ISO RGD:732280 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15654816|REF_RGD_ID:5688158 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:2841 asthma severity ISO RGD:732280 D RGD:9068941 20200609 RGD associated with Respiratory Syncytial Virus Infections PMID:15593301|REF_RGD_ID:5688159 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:732280 D RGD:9068941 20200619 RGD mRNA:increased expression:lung (mouse) PMID:15356152|REF_RGD_ID:30309221 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1349625 D RGD:9068941 20200609 RGD PMID:18844696|REF_RGD_ID:5688176 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:3393 coronary artery disease ISO RGD:1349625 D RGD:9068941 20200609 RGD PMID:12742282|REF_RGD_ID:5508477 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:409 liver disease ISO RGD:1349625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:5082 liver cirrhosis ISO RGD:1349625 D RGD:9068941 20200609 RGD associated with Fatty Liver PMID:19280268|REF_RGD_ID:5688143 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:5434 scrapie ISO RGD:732280 D RGD:9068941 20200609 RGD PMID:18396336|REF_RGD_ID:5688145 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:552 pneumonia ISO RGD:1349625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:552 pneumonia ISO RGD:732280 D RGD:9068941 20200609 RGD PMID:20870892|REF_RGD_ID:5688175 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:630 genetic disease ISO RGD:1349625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:646 viral encephalitis ISO RGD:732280 D RGD:9068941 20200609 RGD PMID:18158733|REF_RGD_ID:5688146 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1349625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284949 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1349625 D RGD:9068941 20200609 RGD PMID:12860725|REF_RGD_ID:5688170 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:783 end stage renal disease ISO RGD:732280 D RGD:9068941 20200609 RGD associated with Candidiasis, Invasive; PMID:22916017|REF_RGD_ID:7241817 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:824 periodontitis ISO RGD:732280 D RGD:9068941 20200609 RGD PMID:20053385|REF_RGD_ID:5688142 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:708446 D RGD:9068941 20200609 RGD PMID:21332278|REF_RGD_ID:5688138 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:9000722 Animal Hepatitis ISO RGD:732280 D RGD:9068941 20200609 RGD PMID:15368307|REF_RGD_ID:5688161 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:708446 D RGD:9068941 20200609 RGD PMID:14674010|REF_RGD_ID:1582346 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:732280 D RGD:9068941 20200609 RGD PMID:18608173|REF_RGD_ID:5688144 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:1349625 D RGD:9068941 20200609 RGD PMID:16493073|REF_RGD_ID:5688154 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:708446 D RGD:9068941 20200609 RGD PMID:14512166|PMID:14655765|REF_RGD_ID:5688165|REF_RGD_ID:5688167 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1349625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:732280 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:20410256|REF_RGD_ID:5688141 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:9004610 Acute Lung Injury ISO RGD:732280 D RGD:9068941 20200609 RGD associated with Pancreatitis PMID:17312463|REF_RGD_ID:5688151 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:9005372 Inflammation ISO RGD:732280 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:18088392|REF_RGD_ID:5688150 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:9005372 Inflammation ISO RGD:732280 D RGD:9068941 20200609 RGD associated with Sepsis PMID:17234893|REF_RGD_ID:5688152 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:9005930 Endotoxemia ISO RGD:732280 D RGD:9068941 20200609 RGD PMID:17016504|REF_RGD_ID:5688178 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:732280 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve, macrophage, T cell PMID:20500551|REF_RGD_ID:5688140 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:9007156 Enteritis ISO RGD:732280 D RGD:9068941 20200609 RGD PMID:11875005|REF_RGD_ID:5688172 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:9111 cutaneous leishmaniasis ISO RGD:732280 D RGD:9068941 20200609 RGD PMID:12874303|REF_RGD_ID:5688168 12180526 CCR1 chemokine (C-C motif) receptor 1 gene DOID:9246 cerebral amyloid angiopathy ISO RGD:1349625 D RGD:9068941 20200609 RGD PMID:14595653|REF_RGD_ID:5688166 12180537 HSD11B1L hydroxysteroid 11-beta dehydrogenase 1 like gene DOID:630 genetic disease ISO RGD:1605800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180572 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha gene DOID:1059 intellectual disability ISO RGD:1321266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12180572 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha gene DOID:630 genetic disease ISO RGD:1321266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12180572 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha gene DOID:9006582 Oculoskeletodental Syndrome ISO RGD:1321266 D RGD:7240710 20190626 OMIM 12180572 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha gene DOID:9006582 Oculoskeletodental Syndrome ISO RGD:1321266 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOSKELETODENTAL SYNDROME PMID:25741868|PMID:28492532|PMID:31034465 12180572 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha gene DOID:9007661 Dwarfism ISO RGD:1321266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:31034465 12180572 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:1321266 D RGD:9068941 20200609 RGD mRNA:decreased expression:Islets of Langerhans PMID:21127054|REF_RGD_ID:7243008 12180612 PRELP proline and arginine rich end leucine rich repeat protein gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:732559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12180612 PRELP proline and arginine rich end leucine rich repeat protein gene DOID:1540 parathyroid carcinoma ISO RGD:732559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12180612 PRELP proline and arginine rich end leucine rich repeat protein gene DOID:630 genetic disease ISO RGD:732559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180612 PRELP proline and arginine rich end leucine rich repeat protein gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:732559 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12180612 PRELP proline and arginine rich end leucine rich repeat protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:0050635 alternating hemiplegia of childhood ISO RGD:736008 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Alternating hemiplegia of childhood PMID:25741868|PMID:28492532 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:0050952 spastic ataxia ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:0060178 familial hemiplegic migraine ISO RGD:736008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:11439943|PMID:12023326|PMID:12539047|PMID:14667076|PMID:15159495|PMID:15174025|PMID:15286158|PMID:15459825|PMID:16088919|PMID:16110494|PMID:16199547|PMID:16344534|PMID:16437583|PMID:16538223|PMID:17142831|PMID:17435187|PMID:17473835|PMID:17576681|PMID:17877748|PMID:17952365|PMID:18056581|PMID:18414213|PMID:18498390|PMID:18644608|PMID:18728015|PMID:18957371|PMID:19372756|PMID:19458722|PMID:19874388|PMID:20301562|PMID:20720542|PMID:20837964|PMID:21352219|PMID:21398422|PMID:21533730|PMID:22117059|PMID:23821026|PMID:23838748|PMID:23954377|PMID:24396618|PMID:24498617|PMID:24704353|PMID:24921013|PMID:25741868|PMID:26467025|PMID:27066515|PMID:27226003|PMID:27790126|PMID:27864847|PMID:28492532|PMID:28717674|PMID:28811059|PMID:29062094|PMID:29343472|PMID:29778030|PMID:29867740|PMID:29956301|PMID:30185235|PMID:30690204|PMID:31737037|PMID:33794876|PMID:34384358|PMID:9536098 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:0060484 EAST syndrome ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EAST syndrome PMID:28492532 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:28492532 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:0080918 polymicrogyria ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:25741868|PMID:31608932 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:0110346 osteogenesis imperfecta type 10 ISO RGD:736008 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 10 PMID:25741868 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:0111182 familial hemiplegic migraine 2 ISO RGD:736008 D RGD:7240710 20191009 OMIM 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:0111182 familial hemiplegic migraine 2 ISO RGD:736008 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Migraine, familial hemiplegic, 2 PMID:12539047|PMID:12953268|PMID:15133718|PMID:15159495|PMID:15174025|PMID:15308625|PMID:15459825|PMID:16037212|PMID:16088919|PMID:17435187|PMID:17473835|PMID:17576681|PMID:17877748|PMID:17952365|PMID:18056581|PMID:18414213|PMID:18728015|PMID:18957371|PMID:19372756|PMID:20301562|PMID:20720542|PMID:21172953|PMID:21398422|PMID:21533730|PMID:22117059|PMID:23821026|PMID:24704353|PMID:25138102|PMID:25326635|PMID:25741868|PMID:26467025|PMID:27790126|PMID:27818813|PMID:28492532|PMID:29413639|PMID:29904856|PMID:33880529|PMID:34384358|PMID:9536098|PMID:9579893 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:10024 migraine with aura ISO RGD:736008 D RGD:9068941 20200609 RGD PMID:12953268|REF_RGD_ID:1358436 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:10763 hypertension ISO RGD:736008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16166162|PMID:16243970 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:10763 hypertension susceptibility ISO RGD:736008 D RGD:9068941 20200609 RGD PMID:11257061|REF_RGD_ID:1601254 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:10969 hemiplegia ISO RGD:736008 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hemiplegia PMID:25741868|PMID:28492532 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:14264 benign neonatal seizures ISO RGD:736008 D RGD:9068941 20200609 RGD PMID:12953268|REF_RGD_ID:1358436 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:1540 parathyroid carcinoma ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:1826 epilepsy ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:18644608|PMID:24921013|PMID:25741868|PMID:28492532|PMID:30690204 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:630 genetic disease ISO RGD:736008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15174025|PMID:16088919|PMID:16538223|PMID:17473835|PMID:17576681|PMID:17877748|PMID:17952365|PMID:18056581|PMID:18414213|PMID:18728015|PMID:18957371|PMID:19458722|PMID:21172953|PMID:22117059|PMID:23954377|PMID:24396618|PMID:24921013|PMID:25741868|PMID:26467025|PMID:27226003|PMID:27818813|PMID:28492532|PMID:29062094|PMID:29413639|PMID:29778030|PMID:29867740|PMID:29904856|PMID:29956301|PMID:34384358|PMID:9536098 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:9001342 Developmental and Epileptic Encephalopathy 98 ISO RGD:736008 D RGD:7240710 20211201 OMIM 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:9001342 Developmental and Epileptic Encephalopathy 98 ISO RGD:736008 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 98 PMID:15159495|PMID:15174025|PMID:17877748|PMID:18028456|PMID:18056581|PMID:18414213|PMID:25326635|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33880529 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:9001793 Generalized Epilepsy ISO RGD:736008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:16538223|PMID:17473835|PMID:22117059|PMID:25741868|PMID:28492532|PMID:34384358 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:9001804 FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES ISO RGD:736008 D RGD:7240710 20220209 OMIM 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:9001804 FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES ISO RGD:736008 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies PMID:15174025|PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30690204|PMID:31608932 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:9002079 Paresis ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemiparesis PMID:30311386 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:9005462 Familial Basilar Migraine ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Migraine, familial basilar PMID:16344534|PMID:18498390|PMID:23954377|PMID:28492532 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:9007692 Insulin Resistance ISO RGD:736008 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:14576983|REF_RGD_ID:1601252 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:9009197 Alternating Hemiplegia of Childhood 1 ISO RGD:736008 D RGD:7240710 20191009 OMIM 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:9009197 Alternating Hemiplegia of Childhood 1 ISO RGD:736008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alternating hemiplegia of childhood 1 PMID:11439943|PMID:12023326|PMID:14667076|PMID:15174025|PMID:15286158|PMID:16437583|PMID:17473835|PMID:17576681|PMID:17877748|PMID:18056581|PMID:18414213|PMID:18957371|PMID:19874388|PMID:20837964|PMID:21533730|PMID:24921013|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28717674|PMID:30423015|PMID:31737037|PMID:34384358|PMID:9536098 12180621 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12180648 NELFA negative elongation factor complex member A gene DOID:1856 cherubism ISO RGD:1313651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12180648 NELFA negative elongation factor complex member A gene DOID:630 genetic disease ISO RGD:1313651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180664 FZD9 frizzled class receptor 9 gene DOID:0060041 autism spectrum disorder ISO RGD:734067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12180664 FZD9 frizzled class receptor 9 gene DOID:10923 sickle cell anemia ISO RGD:734067 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12180664 FZD9 frizzled class receptor 9 gene DOID:12849 autistic disorder ISO RGD:734067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12180664 FZD9 frizzled class receptor 9 gene DOID:1928 Williams-Beuren syndrome ISO RGD:734067 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 12180664 FZD9 frizzled class receptor 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12180664 FZD9 frizzled class receptor 9 gene DOID:5419 schizophrenia ISO RGD:734067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12180664 FZD9 frizzled class receptor 9 gene DOID:630 genetic disease ISO RGD:734067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180664 FZD9 frizzled class receptor 9 gene DOID:8445 intestinal volvulus ISO RGD:734067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12180664 FZD9 frizzled class receptor 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12180664 FZD9 frizzled class receptor 9 gene DOID:9008419 Volvulus Of Midgut ISO RGD:734067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12180669 OAS1 2'-5'-oligoadenylate synthetase 1 gene DOID:0080600 COVID-19 ISO RGD:1345660 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: OAS1 polymorphism PMID:16014697|PMID:28492532 12180669 OAS1 2'-5'-oligoadenylate synthetase 1 gene DOID:630 genetic disease ISO RGD:1345660 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29455859|PMID:34145065 12180669 OAS1 2'-5'-oligoadenylate synthetase 1 gene DOID:9001488 Human Influenza ISO RGD:1345660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12180669 OAS1 2'-5'-oligoadenylate synthetase 1 gene DOID:9002124 IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA ISO RGD:1345660 D RGD:7240710 20220713 OMIM 12180669 OAS1 2'-5'-oligoadenylate synthetase 1 gene DOID:9002124 IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA ISO RGD:1345660 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonary alveolar proteinosis with hypogammaglobulinemia PMID:25741868|PMID:28492532|PMID:29185156|PMID:29455859|PMID:34145065 12180669 OAS1 2'-5'-oligoadenylate synthetase 1 gene DOID:934 viral infectious disease ISO RGD:1345660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15732009 12180684 CAPN11 calpain 11 gene DOID:630 genetic disease ISO RGD:1342957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180709 SRSF1 serine and arginine rich splicing factor 1 gene DOID:0050777 Joubert syndrome ISO RGD:1350049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12180709 SRSF1 serine and arginine rich splicing factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1350049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12180709 SRSF1 serine and arginine rich splicing factor 1 gene DOID:10534 stomach cancer ISO RGD:1350049 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach (human) PMID:20938052|REF_RGD_ID:11038731 12180709 SRSF1 serine and arginine rich splicing factor 1 gene DOID:1059 intellectual disability ISO RGD:1350049 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12180709 SRSF1 serine and arginine rich splicing factor 1 gene DOID:219 colon cancer ISO RGD:1350049 D RGD:9068941 20200609 RGD protein:increased expression:colon (human) PMID:17310252|REF_RGD_ID:11038730 12180709 SRSF1 serine and arginine rich splicing factor 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1350049 D RGD:9068941 20210917 RGD protein:increased expression:lung epithelium PMID:23071587|REF_RGD_ID:150429662 12180709 SRSF1 serine and arginine rich splicing factor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350049 D RGD:9068941 20200609 RGD protein:increased expression:lung (human) PMID:20682707|REF_RGD_ID:11038729 12180709 SRSF1 serine and arginine rich splicing factor 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1350049 D RGD:9068941 20210917 RGD PMID:23071587|REF_RGD_ID:150429662 12180709 SRSF1 serine and arginine rich splicing factor 1 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1350049 D RGD:9068941 20210917 RGD PMID:23071587|REF_RGD_ID:150429662 12180709 SRSF1 serine and arginine rich splicing factor 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1350049 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney (human) PMID:21082031|REF_RGD_ID:11039407 12180709 SRSF1 serine and arginine rich splicing factor 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1350049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12180709 SRSF1 serine and arginine rich splicing factor 1 gene DOID:5419 schizophrenia ISO RGD:1350049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16223876 12180709 SRSF1 serine and arginine rich splicing factor 1 gene DOID:630 genetic disease ISO RGD:1350049 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180709 SRSF1 serine and arginine rich splicing factor 1 gene DOID:633 myositis ISO RGD:1350049 D RGD:9068941 20200609 RGD protein:decreased expression:muscle (human) PMID:16574722|REF_RGD_ID:11038773 12180709 SRSF1 serine and arginine rich splicing factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1587490 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:23633480|REF_RGD_ID:9685423 12180709 SRSF1 serine and arginine rich splicing factor 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:1350049 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:23228155|REF_RGD_ID:11038774 12180709 SRSF1 serine and arginine rich splicing factor 1 gene DOID:8692 myeloid leukemia ISO RGD:1350049 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:23228155|REF_RGD_ID:11038774 12180709 SRSF1 serine and arginine rich splicing factor 1 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1350049 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections;protein:altered expression:uterine cervix (human) PMID:19718710|REF_RGD_ID:11039410 12180709 SRSF1 serine and arginine rich splicing factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 12180709 SRSF1 serine and arginine rich splicing factor 1 gene DOID:9002234 Pituitary Neoplasms ISO RGD:1350049 D RGD:9068941 20200609 RGD mRNA:increased expression:pituitary gland (human) PMID:23462647|REF_RGD_ID:11038736 12180709 SRSF1 serine and arginine rich splicing factor 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1350049 D RGD:9068941 20200609 RGD mRNA:increased expression:epithelium of female gonad (human) PMID:23748175|REF_RGD_ID:11039469 12180709 SRSF1 serine and arginine rich splicing factor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1621394 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:15390079|REF_RGD_ID:11038777 12180717 PPIF peptidylprolyl isomerase F gene DOID:0080600 COVID-19 ISO RGD:1354243 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12180717 PPIF peptidylprolyl isomerase F gene DOID:5295 intestinal disease ISO RGD:1354243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20668000 12180717 PPIF peptidylprolyl isomerase F gene DOID:630 genetic disease ISO RGD:1354243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180717 PPIF peptidylprolyl isomerase F gene DOID:9005175 Ulcer ISO RGD:1354243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20668000 12180726 TMEM86B transmembrane protein 86B gene DOID:0110936 nemaline myopathy 5 ISO RGD:1603160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5 PMID:28492532 12180726 TMEM86B transmembrane protein 86B gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1603160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12180726 TMEM86B transmembrane protein 86B gene DOID:630 genetic disease ISO RGD:1603160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180738 SYN1 synapsin I gene DOID:0060041 autism spectrum disorder ISO RGD:731422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12180738 SYN1 synapsin I gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12180738 SYN1 synapsin I gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:731422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 12180738 SYN1 synapsin I gene DOID:0080598 Kleefstra syndrome 2 ISO RGD:731422 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 2 PMID:25741868 12180738 SYN1 synapsin I gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:731422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12180738 SYN1 synapsin I gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:731422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12180738 SYN1 synapsin I gene DOID:0112029 non-syndromic X-linked intellectual disability 50 ISO RGD:731422 D RGD:7240710 20190717 OMIM 12180738 SYN1 synapsin I gene DOID:0112029 non-syndromic X-linked intellectual disability 50 ISO RGD:731422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 50 PMID:14985377|PMID:21441247|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28973667|PMID:31969655|PMID:36568968|PMID:9415477 12180738 SYN1 synapsin I gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:731422 D RGD:7240710 20180130 OMIM 12180738 SYN1 synapsin I gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:731422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BATHING EPILEPSY, X-LINKED | ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:15071120|PMID:16199547|PMID:17576681|PMID:21441247|PMID:23406870|PMID:23871722|PMID:24691301|PMID:25741868|PMID:25741869|PMID:26173895|PMID:26467025|PMID:27884173|PMID:28492532|PMID:28973667|PMID:30390306|PMID:31969655|PMID:32235935|PMID:34078716|PMID:34243774|PMID:36568968|PMID:9536098 12180738 SYN1 synapsin I gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:731422 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12180738 SYN1 synapsin I gene DOID:1059 intellectual disability ISO RGD:731422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:36568968 12180738 SYN1 synapsin I gene DOID:12849 autistic disorder ISO RGD:731422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12180738 SYN1 synapsin I gene DOID:1470 major depressive disorder ISO RGD:731422 D RGD:9068941 20200609 RGD mRNA:decreased expression:dorsolateral prefrontal cortex PMID:22885997|REF_RGD_ID:6892958 12180738 SYN1 synapsin I gene DOID:1826 epilepsy ISO RGD:731422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:36568968 12180738 SYN1 synapsin I gene DOID:630 genetic disease ISO RGD:731422 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15071120|PMID:25741868|PMID:26467025|PMID:28492532 12180738 SYN1 synapsin I gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 12180738 SYN1 synapsin I gene DOID:9007692 Insulin Resistance ISO RGD:3797 D RGD:9068941 20200609 RGD PMID:29566703|REF_RGD_ID:13542091 12180760 USP51 ubiquitin specific peptidase 51 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12180760 USP51 ubiquitin specific peptidase 51 gene DOID:12849 autistic disorder ISO RGD:1603172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12180760 USP51 ubiquitin specific peptidase 51 gene DOID:630 genetic disease ISO RGD:1603172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180760 USP51 ubiquitin specific peptidase 51 gene DOID:9007661 Dwarfism ISO RGD:1603172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12180768 LOC100687259 26S proteasome regulatory subunit 10B gene DOID:630 genetic disease ISO RGD:1318819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180774 LOC100855689 spindlin-2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12180774 LOC100855689 spindlin-2 gene DOID:12849 autistic disorder ISO RGD:1603797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12180774 LOC100855689 spindlin-2 gene DOID:630 genetic disease ISO RGD:1603797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180793 MIR28 microRNA mir-28 gene DOID:2043 hepatitis B ISO RGD:1342536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12180793 MIR28 microRNA mir-28 gene DOID:5419 schizophrenia ISO RGD:1342536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12180793 MIR28 microRNA mir-28 gene DOID:6000 congestive heart failure ISO RGD:2325461 D RGD:9068941 20200609 RGD RNA:increased expression:heart PMID:29373037|REF_RGD_ID:26923905 12180793 MIR28 microRNA mir-28 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1342536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12180801 IZUMO3 IZUMO family member 3 gene DOID:5419 schizophrenia ISO RGD:1351856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12180857 ZBED10P Putative protein ZBED10P gene DOID:630 genetic disease ISO RGD:1321295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180878 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:732305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 12180878 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:732305 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:25741868 12180878 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:0111310 familial febrile seizures 2 ISO RGD:732305 D RGD:7240710 20210915 OMIM 12180878 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:0111310 familial febrile seizures 2 ISO RGD:732305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial, 2 PMID:22131395|PMID:24324597|PMID:25741868|PMID:29064616 12180878 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:11832 visual epilepsy ISO RGD:620689 D RGD:9068941 20220728 RGD PMID:17988239|REF_RGD_ID:9686135 12180878 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:1826 epilepsy ISO RGD:732305 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12180878 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:2723 dermatitis ISO RGD:620689 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion: PMID:23236374|REF_RGD_ID:9686396 12180878 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:732305 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12180878 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:630 genetic disease ISO RGD:732305 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12180878 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:9000930 Dental Pulp Exposure ISO RGD:620689 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:17645513|REF_RGD_ID:9686147 12180878 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12180878 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:620689 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:myocyte: PMID:19471099|REF_RGD_ID:9693689 12180878 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620689 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:19815055|REF_RGD_ID:9693680 12180878 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:9007956 Febrile Seizures ISO RGD:620689 D RGD:9068941 20200609 RGD PMID:15837575|REF_RGD_ID:9686385 12180878 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:620689 D RGD:9068941 20200609 RGD PMID:24838625|REF_RGD_ID:9686415 12180878 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:9471 meningitis ISO RGD:620689 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:19409968|REF_RGD_ID:2316615 12180891 FSCN3 fascin actin-bundling protein 3 gene DOID:10892 hypospadias ISO RGD:1353847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:25741868 12180891 FSCN3 fascin actin-bundling protein 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12180891 FSCN3 fascin actin-bundling protein 3 gene DOID:630 genetic disease ISO RGD:1353847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180916 LARP4 La ribonucleoprotein 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:1603283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12180916 LARP4 La ribonucleoprotein 4 gene DOID:630 genetic disease ISO RGD:1603283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180949 GPC3 glypican 3 gene DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 ISO RGD:737615 D RGD:7240710 20180130 OMIM 12180949 GPC3 glypican 3 gene DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 ISO RGD:737615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dysplasia gigantism syndrome, X-linked | ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1 PMID:10402475|PMID:10814714|PMID:12713262|PMID:16158429|PMID:17603795|PMID:17850639|PMID:18203194|PMID:19215053|PMID:20301398|PMID:23606591|PMID:24459012|PMID:25741868|PMID:26321508|PMID:28492532|PMID:9950367 12180949 GPC3 glypican 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12180949 GPC3 glypican 3 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:737615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency PMID:11018746|PMID:15571220|PMID:17027311|PMID:22157001|PMID:23975452|PMID:28492532|PMID:6087154 12180949 GPC3 glypican 3 gene DOID:1059 intellectual disability ISO RGD:737615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12180949 GPC3 glypican 3 gene DOID:12849 autistic disorder ISO RGD:737615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12180949 GPC3 glypican 3 gene DOID:2129 atypical teratoid rhabdoid tumor ISO RGD:737615 D RGD:9068941 20230413 RGD protein:increased expression:brain (human) PMID:23530909|REF_RGD_ID:243065128 12180949 GPC3 glypican 3 gene DOID:2154 nephroblastoma ISO RGD:737615 D RGD:7240710 20180130 OMIM 12180949 GPC3 glypican 3 gene DOID:2154 nephroblastoma ISO RGD:737615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 PMID:10402475|PMID:10814714|PMID:12085187|PMID:12713262|PMID:16199547|PMID:17576681|PMID:17603795|PMID:17850639|PMID:19215053|PMID:20683991|PMID:20950395|PMID:21362501|PMID:21434539|PMID:24033266|PMID:24169032|PMID:24214682|PMID:24357529|PMID:24459012|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29637653|PMID:31304847|PMID:8589713|PMID:8958336|PMID:9192268|PMID:9536098 12180949 GPC3 glypican 3 gene DOID:2154 nephroblastoma ISO RGD:737615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilms tumor 1 PMID:10402475|PMID:10814714|PMID:12085187|PMID:12713262|PMID:16199547|PMID:17576681|PMID:17603795|PMID:17850639|PMID:19215053|PMID:20683991|PMID:20950395|PMID:21434539|PMID:24033266|PMID:24169032|PMID:24214682|PMID:24357529|PMID:24459012|PMID:24728327|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27739211|PMID:28492532|PMID:29637653|PMID:8589713|PMID:8958336|PMID:9192268|PMID:9536098 12180949 GPC3 glypican 3 gene DOID:2394 ovarian cancer ISO RGD:737615 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 12180949 GPC3 glypican 3 gene DOID:3596 placental site trophoblastic tumor ISO RGD:737615 D RGD:9068941 20230413 RGD protein:increased expression:placenta, trophoblast cells (human) PMID:20868507|REF_RGD_ID:243065141 12180949 GPC3 glypican 3 gene DOID:5082 liver cirrhosis ISO RGD:737615 D RGD:9068941 20230413 RGD protein:increased expression:blood serum (human) PMID:28801286|REF_RGD_ID:243065135 12180949 GPC3 glypican 3 gene DOID:5176 renal Wilms' tumor disease_progression ISO RGD:737615 D RGD:9068941 20230413 RGD mRNA, protein:increased expression:kidney (human) PMID:25366870|REF_RGD_ID:243065136 12180949 GPC3 glypican 3 gene DOID:630 genetic disease ISO RGD:737615 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10402475|PMID:12713262|PMID:17603795|PMID:18203194|PMID:19215053|PMID:20683991|PMID:20950395|PMID:23606591|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8589713 12180949 GPC3 glypican 3 gene DOID:684 hepatocellular carcinoma ISO RGD:737615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16698587|PMID:28284560 12180949 GPC3 glypican 3 gene DOID:684 hepatocellular carcinoma ISO RGD:737615 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:25449037|REF_RGD_ID:14695020 12180949 GPC3 glypican 3 gene DOID:684 hepatocellular carcinoma ISO RGD:737615 D RGD:9068941 20230413 RGD protein:increased expression:blood serum (human) PMID:28801286|REF_RGD_ID:243065135 12180949 GPC3 glypican 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737615 D RGD:9068941 20230413 RGD mRNA:increased expression:Peripheral Blood (human) PMID:21438004|REF_RGD_ID:243065125 12180949 GPC3 glypican 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737615 D RGD:9068941 20230413 RGD protein:increased expression:liver (human) PMID:22883669|REF_RGD_ID:243065139 12180949 GPC3 glypican 3 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:737615 D RGD:9068941 20230413 RGD protein:increased expression:liver (human) PMID:27286460|REF_RGD_ID:243065134 12180949 GPC3 glypican 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:737615 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19496787|REF_RGD_ID:14695019 12180949 GPC3 glypican 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:737615 D RGD:9068941 20230413 RGD mRNA,protein:increased expression:peripheral blood mononuclear cell,blood serum, liver (human) PMID:23558072|REF_RGD_ID:243065131 12180949 GPC3 glypican 3 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2725 D RGD:9068941 20200609 RGD PMID:25449037|REF_RGD_ID:14695020 12180949 GPC3 glypican 3 gene DOID:687 hepatoblastoma ISO RGD:737615 D RGD:9068941 20230413 RGD protein:increased expression:liver (human) PMID:23530909|REF_RGD_ID:243065128 12180949 GPC3 glypican 3 gene DOID:9000018 Coronary Vessel Anomalies ISO RGD:10677 D RGD:9068941 20230413 RGD PMID:19733558|REF_RGD_ID:243065129 12180949 GPC3 glypican 3 gene DOID:9003566 Mesothelioma ISO RGD:737615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10656689 12180949 GPC3 glypican 3 gene DOID:9006618 Liver Metastasis ISO RGD:737615 D RGD:9068941 20230413 RGD protein:increased expression:blood serum (human) PMID:28801286|REF_RGD_ID:243065135 12180949 GPC3 glypican 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737615 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532 12180949 GPC3 glypican 3 gene DOID:9007329 Human Viral Hepatitis ISO RGD:737615 D RGD:9068941 20230413 RGD protein:increased expression:blood serum (human) PMID:28801286|REF_RGD_ID:243065135 12180960 ETV7 ETS variant transcription factor 7 gene DOID:0050553 JMP syndrome ISO RGD:1353246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12180960 ETV7 ETS variant transcription factor 7 gene DOID:630 genetic disease ISO RGD:1353246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180973 ORAI2 ORAI calcium release-activated calcium modulator 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12180973 ORAI2 ORAI calcium release-activated calcium modulator 2 gene DOID:630 genetic disease ISO RGD:1320982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12180982 SLC9A7 solute carrier family 9 member A7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12180982 SLC9A7 solute carrier family 9 member A7 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1350922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12180982 SLC9A7 solute carrier family 9 member A7 gene DOID:0111844 X-linked intellectual developmental disorder 108 ISO RGD:1350922 D RGD:7240710 20190424 OMIM 12180982 SLC9A7 solute carrier family 9 member A7 gene DOID:0111844 X-linked intellectual developmental disorder 108 ISO RGD:1350922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 108 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 108 PMID:25741868|PMID:28492532|PMID:30335141 12180982 SLC9A7 solute carrier family 9 member A7 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1350922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders PMID:14985377|PMID:21441247|PMID:28492532 12180982 SLC9A7 solute carrier family 9 member A7 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1350922 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12180982 SLC9A7 solute carrier family 9 member A7 gene DOID:12849 autistic disorder ISO RGD:1350922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12180982 SLC9A7 solute carrier family 9 member A7 gene DOID:630 genetic disease ISO RGD:1350922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12180982 SLC9A7 solute carrier family 9 member A7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12180982 SLC9A7 solute carrier family 9 member A7 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1350922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 12181006 SLAMF6 SLAM family member 6 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1345807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12181006 SLAMF6 SLAM family member 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1345807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12181006 SLAMF6 SLAM family member 6 gene DOID:630 genetic disease ISO RGD:1345807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181006 SLAMF6 SLAM family member 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12181035 CPTP ceramide-1-phosphate transfer protein gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:2289752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12181035 CPTP ceramide-1-phosphate transfer protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:2289752 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12181035 CPTP ceramide-1-phosphate transfer protein gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:2289752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12181035 CPTP ceramide-1-phosphate transfer protein gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:2289752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12181035 CPTP ceramide-1-phosphate transfer protein gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:2289752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12181035 CPTP ceramide-1-phosphate transfer protein gene DOID:0110994 Joubert syndrome 25 ISO RGD:2289752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12181035 CPTP ceramide-1-phosphate transfer protein gene DOID:0111934 immunodeficiency 38 ISO RGD:2289752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12181035 CPTP ceramide-1-phosphate transfer protein gene DOID:0111935 immunodeficiency 16 ISO RGD:2289752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12181035 CPTP ceramide-1-phosphate transfer protein gene DOID:1827 idiopathic generalized epilepsy ISO RGD:2289752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12181035 CPTP ceramide-1-phosphate transfer protein gene DOID:630 genetic disease ISO RGD:2289752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181035 CPTP ceramide-1-phosphate transfer protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2289752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12181035 CPTP ceramide-1-phosphate transfer protein gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:2289752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12181035 CPTP ceramide-1-phosphate transfer protein gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:2289752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12181055 AAMDC adipogenesis associated Mth938 domain containing gene DOID:1059 intellectual disability ISO RGD:1603054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12181055 AAMDC adipogenesis associated Mth938 domain containing gene DOID:630 genetic disease ISO RGD:1603054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181087 TEX10 testis expressed 10 gene DOID:1059 intellectual disability ISO RGD:1323824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12181087 TEX10 testis expressed 10 gene DOID:630 genetic disease ISO RGD:1323824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181108 ADGRF1 adhesion G protein-coupled receptor F1 gene DOID:630 genetic disease ISO RGD:1321097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181153 FKBP9 FKBP prolyl isomerase 9 gene DOID:0080600 COVID-19 ISO RGD:1354428 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12181153 FKBP9 FKBP prolyl isomerase 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1354428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12181153 FKBP9 FKBP prolyl isomerase 9 gene DOID:630 genetic disease ISO RGD:1354428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181165 ZNF277 zinc finger protein 277 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12181165 ZNF277 zinc finger protein 277 gene DOID:5419 schizophrenia ISO RGD:1353791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12181165 ZNF277 zinc finger protein 277 gene DOID:630 genetic disease ISO RGD:1353791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181165 ZNF277 zinc finger protein 277 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12181185 FAM149A family with sequence similarity 149 member A gene DOID:0060041 autism spectrum disorder ISO RGD:1604030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25255310 12181185 FAM149A family with sequence similarity 149 member A gene DOID:12849 autistic disorder ISO RGD:1604030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12181185 FAM149A family with sequence similarity 149 member A gene DOID:630 genetic disease ISO RGD:1604030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181185 FAM149A family with sequence similarity 149 member A gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1604030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 12181206 PTGFRN prostaglandin F2 receptor inhibitor gene DOID:0080600 COVID-19 ISO RGD:733934 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12181206 PTGFRN prostaglandin F2 receptor inhibitor gene DOID:630 genetic disease ISO RGD:733934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181221 ARHGDIA Rho GDP dissociation inhibitor alpha gene DOID:0080389 nephrotic syndrome type 8 ISO RGD:1354371 D RGD:7240710 20180130 OMIM 12181221 ARHGDIA Rho GDP dissociation inhibitor alpha gene DOID:0080389 nephrotic syndrome type 8 ISO RGD:1354371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 8 PMID:23867502|PMID:25741868|PMID:25741905|PMID:28492532 12181221 ARHGDIA Rho GDP dissociation inhibitor alpha gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1354371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:25741868 12181221 ARHGDIA Rho GDP dissociation inhibitor alpha gene DOID:10763 hypertension ISO RGD:1359547 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:19689474|REF_RGD_ID:9684972 12181221 ARHGDIA Rho GDP dissociation inhibitor alpha gene DOID:10763 hypertension ISO RGD:1359547 D RGD:9068941 20200609 RGD protein:decreased expression:cortical collecting duct PMID:25164814|REF_RGD_ID:9684979 12181221 ARHGDIA Rho GDP dissociation inhibitor alpha gene DOID:1184 nephrotic syndrome ISO RGD:1552296 D RGD:9068941 20220825 MouseDO OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861 12181221 ARHGDIA Rho GDP dissociation inhibitor alpha gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1354371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12181221 ARHGDIA Rho GDP dissociation inhibitor alpha gene DOID:630 genetic disease ISO RGD:1354371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181221 ARHGDIA Rho GDP dissociation inhibitor alpha gene DOID:784 chronic kidney disease ISO RGD:1354371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 12181221 ARHGDIA Rho GDP dissociation inhibitor alpha gene DOID:9000058 Keloid ISO RGD:1354371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12181221 ARHGDIA Rho GDP dissociation inhibitor alpha gene DOID:9000965 Neoplasm Metastasis ISO RGD:1354371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 12181221 ARHGDIA Rho GDP dissociation inhibitor alpha gene DOID:9008939 Breast Neoplasms ISO RGD:1354371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 12181234 STARD6 StAR related lipid transfer domain containing 6 gene DOID:1059 intellectual disability ISO RGD:1351128 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12181234 STARD6 StAR related lipid transfer domain containing 6 gene DOID:630 genetic disease ISO RGD:1351128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181253 LMOD3 leiomodin 3 gene DOID:0110931 nemaline myopathy 10 ISO RGD:1603025 D RGD:7240710 20180130 OMIM 12181253 LMOD3 leiomodin 3 gene DOID:0110931 nemaline myopathy 10 ISO RGD:1603025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 10 PMID:17576681|PMID:25250574|PMID:25741868|PMID:28492532|PMID:28815944|PMID:30291184|PMID:30642739|PMID:31428121|PMID:9536098 12181253 LMOD3 leiomodin 3 gene DOID:630 genetic disease ISO RGD:1603025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12181268 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:0060041 autism spectrum disorder ISO RGD:1320604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12181268 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1622851 D RGD:9068941 20220825 MouseDO 12181268 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1320604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25205402|PMID:25741868|PMID:28505103 12181268 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:0070056 autosomal dominant intellectual developmental disorder 26 ISO RGD:1320604 D RGD:7240710 20190315 OMIM 12181268 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:0070056 autosomal dominant intellectual developmental disorder 26 ISO RGD:1320604 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder due to AUTS2 deficiency PMID:21680558|PMID:21681106|PMID:22872102|PMID:23332918|PMID:25205402|PMID:25741868|PMID:25741869|PMID:27075013|PMID:28492532|PMID:33562463 12181268 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1320604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 12181268 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:0080600 COVID-19 ISO RGD:1320604 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12181268 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:1059 intellectual disability ISO RGD:1320604 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:29758562 12181268 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:12849 autistic disorder ISO RGD:1320604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25205402|PMID:25741868|PMID:28505103 12181268 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:1826 epilepsy ISO RGD:1320604 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20502679 12181268 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1320604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pierre Robin-like syndrome 12181268 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12181268 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:630 genetic disease ISO RGD:1320604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25533962|PMID:25741868|PMID:27075013|PMID:28191890|PMID:28492532|PMID:33562463 12181268 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:9001153 FG Syndrome 4 ISO RGD:1320604 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FG syndrome 4 PMID:25741868|PMID:28492532 12181268 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1320604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:31474318 12181268 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320604 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868|PMID:28492532|PMID:33562463 12181268 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:9005747 Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability ISO RGD:1320604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability PMID:23332918 12181268 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:9008086 Developmental Disabilities ISO RGD:1320604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12181268 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:9008582 Developmental Disease ISO RGD:1320604 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12181268 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:9009194 Autosomal Dominant Intellectual Developmental Disorder 57 ISO RGD:1320604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 57 PMID:25205402|PMID:25741868|PMID:27075013|PMID:28492532|PMID:31785789 12181268 AUTS2 activator of transcription and developmental regulator AUTS2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1320604 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 12181298 GFAP glial fibrillary acidic protein gene DOID:0060041 autism spectrum disorder ISO RGD:619574 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12181298 GFAP glial fibrillary acidic protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12181298 GFAP glial fibrillary acidic protein gene DOID:0060249 scoliosis ISO RGD:619574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis 12181298 GFAP glial fibrillary acidic protein gene DOID:0080600 COVID-19 ISO RGD:619574 D RGD:9068941 20210618 RGD protein:increased expression:serum (human) PMID:33743046|REF_RGD_ID:127284892 12181298 GFAP glial fibrillary acidic protein gene DOID:0080600 COVID-19 disease_progression ISO RGD:619574 D RGD:9068941 20210625 RGD protein:increased expression:plasma (human) PMID:32546655|REF_RGD_ID:127284882 12181298 GFAP glial fibrillary acidic protein gene DOID:0110345 osteogenesis imperfecta type 16 ISO RGD:619574 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 16 PMID:11567214|PMID:12034785|PMID:15477559|PMID:15732097|PMID:16217707|PMID:16505300|PMID:17318298|PMID:17629821|PMID:17894839|PMID:18079314|PMID:19484233|PMID:21533827|PMID:25741868|PMID:26208460|PMID:26467025|PMID:26478912|PMID:26743065|PMID:28492532|PMID:30628038 12181298 GFAP glial fibrillary acidic protein gene DOID:0110621 primary ciliary dyskinesia 17 ISO RGD:619574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 17 12181298 GFAP glial fibrillary acidic protein gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 12181298 GFAP glial fibrillary acidic protein gene DOID:12098 trigeminal neuralgia ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12181298 GFAP glial fibrillary acidic protein gene DOID:12217 Lewy body dementia ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 12181298 GFAP glial fibrillary acidic protein gene DOID:14330 Parkinson's disease ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 12181298 GFAP glial fibrillary acidic protein gene DOID:1826 epilepsy ISO RGD:619574 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12181298 GFAP glial fibrillary acidic protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11723166 12181298 GFAP glial fibrillary acidic protein gene DOID:4252 Alexander disease IAGP D RGD:12801476 20230222 OMIA Alexander disease PMID:8787155|PMID:3776469|PMID:17099166|PMID:20526046|PMID:26486469|PMID:33055453|PMID:25985984|PMID:1771743|PMID:36799664 12181298 GFAP glial fibrillary acidic protein gene DOID:4252 Alexander disease ISO RGD:619574 D RGD:7240710 20180130 OMIM 12181298 GFAP glial fibrillary acidic protein gene DOID:4252 Alexander disease ISO RGD:619574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alexander disease PMID:11138011|PMID:11398833|PMID:11567214|PMID:11587071|PMID:11595337|PMID:11867077|PMID:12026242|PMID:12034785|PMID:12034796|PMID:12368989|PMID:12447932|PMID:12509855|PMID:12581808|PMID:12638020|PMID:12944715|PMID:12975300|PMID:14550921|PMID:14557587|PMID:15030911|PMID:15390001|PMID:15465095|PMID:15477559|PMID:15675360|PMID:15696488|PMID:15732097|PMID:15732098|PMID:15840648|PMID:16168593|PMID:16168595|PMID:16217707|PMID:16240361|PMID:16505300|PMID:16826512|PMID:16996408|PMID:17043438|PMID:17065456|PMID:17110673|PMID:17156703|PMID:17318298|PMID:17383133|PMID:17438228|PMID:17509491|PMID:17629821|PMID:17703343|PMID:17805552|PMID:17894839|PMID:17934883|PMID:17960815|PMID:17985264|PMID:18054694|PMID:18079314|PMID:18217876|PMID:18388212|PMID:18402384|PMID:18495313|PMID:18581469|PMID:18584981|PMID:18653683|PMID:18684770|PMID:19128991|PMID:19386454|PMID:1941292|PMID:19418047|PMID:19444543|PMID:19484233|PMID:19618846|PMID:19672978|PMID:19948199|PMID:20301351|PMID:20448479|PMID:20562394|PMID:20849398|PMID:21041050|PMID:21132324|PMID:21165639|PMID:21270471|PMID:21533827|PMID:21572052|PMID:21756903|PMID:21822933|PMID:219025661|PMID:21917775|PMID:21940697|PMID:21987397|PMID:22140645|PMID:22198646|PMID:22302460|PMID:22488673|PMID:22566711|PMID:22619055|PMID:22818990|PMID:23149175|PMID:23185175|PMID:23254569|PMID:23364391|PMID:23430549|PMID:23432455|PMID:23634874|PMID:23706596|PMID:23743246|PMID:23903069|PMID:23925719|PMID:24045243|PMID:24188966|PMID:24306001|PMID:24427505|PMID:24742911|PMID:24755947|PMID:25741868|PMID:25997626|PMID:26208460|PMID:26285664|PMID:26467025|PMID:26478912|PMID:26486469|PMID:26743065|PMID:27468269|PMID:27648269|PMID:27814755|PMID:28492532|PMID:28882119|PMID:28953922|PMID:29421207|PMID:29431177|PMID:30048824|PMID:30213442|PMID:30355500|PMID:30628038|PMID:31484723|PMID:31611638|PMID:31942421|PMID:31956193|PMID:32126152|PMID:34146839|PMID:34245630 12181298 GFAP glial fibrillary acidic protein gene DOID:4724 brain edema ISO RGD:2679 D RGD:9068941 20200609 RGD associated with Embolism, Fat;protein:increased expression:brain PMID:20111877|REF_RGD_ID:5490129 12181298 GFAP glial fibrillary acidic protein gene DOID:5679 retinal disease ISO RGD:2679 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18836575|REF_RGD_ID:5490154 12181298 GFAP glial fibrillary acidic protein gene DOID:574 peripheral nervous system disease ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10447555 12181298 GFAP glial fibrillary acidic protein gene DOID:630 genetic disease ISO RGD:619574 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11138011|PMID:11398833|PMID:12034785|PMID:14550921|PMID:15390001|PMID:15732097|PMID:16505300|PMID:16826512|PMID:17894839|PMID:18388212|PMID:18684770|PMID:21756903|PMID:22140645|PMID:24742911|PMID:25741868|PMID:26467025|PMID:27814755|PMID:28492532|PMID:30213442|PMID:30355500|PMID:31484723|PMID:31611638 12181298 GFAP glial fibrillary acidic protein gene DOID:863 nervous system disease ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10773198|PMID:9427479|PMID:9634552 12181298 GFAP glial fibrillary acidic protein gene DOID:8869 neuromyelitis optica ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18509235 12181298 GFAP glial fibrillary acidic protein gene DOID:9000039 Spinal Cord Injuries ISO RGD:10633 D RGD:9068941 20200609 RGD PMID:10225952|REF_RGD_ID:6480471 12181298 GFAP glial fibrillary acidic protein gene DOID:9000039 Spinal Cord Injuries ISO RGD:2679 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:21250919|REF_RGD_ID:6480511 12181298 GFAP glial fibrillary acidic protein gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2679 D RGD:9068941 20210122 RGD PMID:24968269|REF_RGD_ID:40924652 12181298 GFAP glial fibrillary acidic protein gene DOID:9001036 Penetrating Head Injuries ISO RGD:10633 D RGD:9068941 20200609 RGD PMID:10225952|REF_RGD_ID:6480471 12181298 GFAP glial fibrillary acidic protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2679 D RGD:9068941 20220520 RGD associated with Schistosomiasis Japonica; mRNA:decreased expression:liver (rat) PMID:29323718|REF_RGD_ID:38599216 12181298 GFAP glial fibrillary acidic protein gene DOID:9002211 Hyperalgesia ISO RGD:2679 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries;mRNA,protein:increased expression:brain,spinal cord: PMID:16219025|REF_RGD_ID:8695957 12181298 GFAP glial fibrillary acidic protein gene DOID:9002211 Hyperalgesia ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12181298 GFAP glial fibrillary acidic protein gene DOID:9003919 Urination Disorders ISO RGD:2679 D RGD:9068941 20200609 RGD associated with spinal cord injuries PMID:21250919|REF_RGD_ID:6480511 12181298 GFAP glial fibrillary acidic protein gene DOID:9006008 Closed Head Injuries ISO RGD:2679 D RGD:9068941 20200609 RGD PMID:8833197|REF_RGD_ID:6480531 12181298 GFAP glial fibrillary acidic protein gene DOID:9006205 Animal Disease Models ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12181298 GFAP glial fibrillary acidic protein gene DOID:9007096 Stroke severity ISO RGD:619574 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:19959621|REF_RGD_ID:5508793 12181298 GFAP glial fibrillary acidic protein gene DOID:9007402 Gliosis ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12183020 12181298 GFAP glial fibrillary acidic protein gene DOID:9007921 Spina Bifida Cystica ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8422324 12181298 GFAP glial fibrillary acidic protein gene DOID:9009131 Ventriculomegaly ISO RGD:619574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive ventriculomegaly PMID:25741868 12181298 GFAP glial fibrillary acidic protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:619574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 12181313 FAM98C family with sequence similarity 98 member C gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1604231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 12181313 FAM98C family with sequence similarity 98 member C gene DOID:630 genetic disease ISO RGD:1604231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181332 ZNF653 zinc finger protein 653 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1347968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12181332 ZNF653 zinc finger protein 653 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1347968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12181332 ZNF653 zinc finger protein 653 gene DOID:0111254 glutaric acidemia I ISO RGD:1347968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12181332 ZNF653 zinc finger protein 653 gene DOID:3413 alpha-mannosidosis ISO RGD:1347968 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12181332 ZNF653 zinc finger protein 653 gene DOID:630 genetic disease ISO RGD:1347968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181366 DDX54 DEAD-box helicase 54 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1354287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12181366 DDX54 DEAD-box helicase 54 gene DOID:0080204 renal hypoplasia ISO RGD:1354287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypoplasia PMID:31256877 12181366 DDX54 DEAD-box helicase 54 gene DOID:1059 intellectual disability ISO RGD:1354287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31256877 12181366 DDX54 DEAD-box helicase 54 gene DOID:11612 polycystic ovary syndrome ISO RGD:1354287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12181366 DDX54 DEAD-box helicase 54 gene DOID:1826 epilepsy ISO RGD:1354287 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:31256877 12181366 DDX54 DEAD-box helicase 54 gene DOID:630 genetic disease ISO RGD:1354287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181366 DDX54 DEAD-box helicase 54 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorders PMID:31256877 12181366 DDX54 DEAD-box helicase 54 gene DOID:9007188 Liver Neoplasms ISO RGD:1354287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12181386 TRIM29 tripartite motif containing 29 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1317296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12181386 TRIM29 tripartite motif containing 29 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1317296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12181386 TRIM29 tripartite motif containing 29 gene DOID:0080690 RASopathy ISO RGD:1317296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12181386 TRIM29 tripartite motif containing 29 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1317296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12181386 TRIM29 tripartite motif containing 29 gene DOID:0111971 immunodeficiency 18 ISO RGD:1317296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12181386 TRIM29 tripartite motif containing 29 gene DOID:0111972 immunodeficiency 19 ISO RGD:1317296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12181386 TRIM29 tripartite motif containing 29 gene DOID:0111973 immunodeficiency 17 ISO RGD:1317296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12181386 TRIM29 tripartite motif containing 29 gene DOID:3070 high grade glioma ISO RGD:1317296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30929997 12181386 TRIM29 tripartite motif containing 29 gene DOID:5419 schizophrenia ISO RGD:1317296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12181386 TRIM29 tripartite motif containing 29 gene DOID:630 genetic disease ISO RGD:1317296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181386 TRIM29 tripartite motif containing 29 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1317296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12181386 TRIM29 tripartite motif containing 29 gene DOID:9007661 Dwarfism ISO RGD:1317296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12181399 MLYCD malonyl-CoA decarboxylase gene DOID:0050700 cardiomyopathy ISO RGD:731588 D RGD:9068941 20200609 RGD malonyl-CoA decarboxylase deficiency, OMIM:248360 PMID:10455107|REF_RGD_ID:1600798 12181399 MLYCD malonyl-CoA decarboxylase gene DOID:1059 intellectual disability ISO RGD:731588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 12181399 MLYCD malonyl-CoA decarboxylase gene DOID:13042 persistent fetal circulation syndrome ISO RGD:731588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12181399 MLYCD malonyl-CoA decarboxylase gene DOID:630 genetic disease ISO RGD:731588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12181399 MLYCD malonyl-CoA decarboxylase gene DOID:9005126 Malonic Aciduria ISO RGD:731588 D RGD:7240710 20180130 OMIM 12181399 MLYCD malonyl-CoA decarboxylase gene DOID:9005126 Malonic Aciduria ISO RGD:731588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of malonyl-CoA decarboxylase PMID:10417274|PMID:10455107|PMID:12955715|PMID:16199547|PMID:17186413|PMID:17576681|PMID:22104738|PMID:22778304|PMID:23177061|PMID:23791943|PMID:25741868|PMID:28492532|PMID:31395333|PMID:32602666|PMID:6145813|PMID:7609455|PMID:8259873|PMID:9177981|PMID:9536098|PMID:9869665 12181399 MLYCD malonyl-CoA decarboxylase gene DOID:9562 primary ciliary dyskinesia ISO RGD:731588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12181408 VAT1 vesicle amine transport 1 gene DOID:630 genetic disease ISO RGD:1319007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181425 OR51A4 olfactory receptor family 51 subfamily A member 4 gene DOID:0080773 delta beta-thalassemia ISO RGD:1345327 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12181425 OR51A4 olfactory receptor family 51 subfamily A member 4 gene DOID:630 genetic disease ISO RGD:1345327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181429 FHL3 four and a half LIM domains 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1316216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12181429 FHL3 four and a half LIM domains 3 gene DOID:630 genetic disease ISO RGD:1316216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181429 FHL3 four and a half LIM domains 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 12181438 ASCC1 activating signal cointegrator 1 complex subunit 1 gene DOID:0111330 combined saposin deficiency ISO RGD:1350086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency PMID:28492532 12181438 ASCC1 activating signal cointegrator 1 complex subunit 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1350086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28749478|PMID:31680123|PMID:8677029 12181438 ASCC1 activating signal cointegrator 1 complex subunit 1 gene DOID:12449 aplastic anemia ISO RGD:1350086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:25741868 12181438 ASCC1 activating signal cointegrator 1 complex subunit 1 gene DOID:630 genetic disease ISO RGD:1350086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12181438 ASCC1 activating signal cointegrator 1 complex subunit 1 gene DOID:9007555 Spinal Muscular Atrophy with Congenital Bone Fractures 2 ISO RGD:1350086 D RGD:7240710 20190315 OMIM 12181438 ASCC1 activating signal cointegrator 1 complex subunit 1 gene DOID:9007555 Spinal Muscular Atrophy with Congenital Bone Fractures 2 ISO RGD:1350086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 2 PMID:16199547|PMID:21791690|PMID:25741868|PMID:26924529|PMID:28218388|PMID:28492532|PMID:28749478|PMID:30327447|PMID:31680123|PMID:31880396|PMID:33931933|PMID:8677029 12181438 ASCC1 activating signal cointegrator 1 complex subunit 1 gene DOID:9206 Barrett's esophagus ISO RGD:1350086 D RGD:7240710 20180130 OMIM 12181438 ASCC1 activating signal cointegrator 1 complex subunit 1 gene DOID:9206 Barrett's esophagus ISO RGD:1350086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Barrett esophagus | ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma PMID:21791690|PMID:25741868|PMID:28492532 12181452 UQCRH ubiquinol-cytochrome c reductase hinge protein gene DOID:630 genetic disease ISO RGD:1314343 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181452 UQCRH ubiquinol-cytochrome c reductase hinge protein gene DOID:9006123 Mitochondrial Complex III Deficiency Nuclear Type 11 ISO RGD:1314343 D RGD:7240710 20221214 OMIM 12181452 UQCRH ubiquinol-cytochrome c reductase hinge protein gene DOID:9006123 Mitochondrial Complex III Deficiency Nuclear Type 11 ISO RGD:1314343 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 11 PMID:34750991 12181464 OR2A7 olfactory receptor family 2 subfamily A member 7 gene DOID:630 genetic disease ISO RGD:1348744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181469 TSPAN14 tetraspanin 14 gene DOID:10652 Alzheimer's disease ISO RGD:1342494 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 12181469 TSPAN14 tetraspanin 14 gene DOID:630 genetic disease ISO RGD:1342494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181488 RHOF ras homolog family member F, filopodia associated gene DOID:630 genetic disease ISO RGD:1352247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181497 HPCA hippocalcin gene DOID:0050861 colorectal adenocarcinoma severity ISO RGD:735421 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:colon carcinoma (human) PMID:22696308|REF_RGD_ID:9693683 12181497 HPCA hippocalcin gene DOID:0060870 isolated growth hormone deficiency ISO RGD:735422 D RGD:9068941 20200609 RGD protein:altered expression:cerebral cortex, cerebellum, hippocampus (mouse) PMID:7882001|REF_RGD_ID:9693682 12181497 HPCA hippocalcin gene DOID:0090038 torsion dystonia 2 ISO RGD:735421 D RGD:7240710 20180130 OMIM 12181497 HPCA hippocalcin gene DOID:0090038 torsion dystonia 2 ISO RGD:735421 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Torsion dystonia 2 PMID:14694054|PMID:25799108|PMID:28492532|PMID:6115727 12181497 HPCA hippocalcin gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:735421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12181497 HPCA hippocalcin gene DOID:12858 Huntington's disease ISO RGD:735421 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain (human) PMID:19686238|REF_RGD_ID:9693681 12181497 HPCA hippocalcin gene DOID:630 genetic disease ISO RGD:735421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181510 ARID3C AT-rich interaction domain 3C gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1342507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12181510 ARID3C AT-rich interaction domain 3C gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1342507 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12181510 ARID3C AT-rich interaction domain 3C gene DOID:0080942 anauxetic dysplasia ISO RGD:1342507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12181510 ARID3C AT-rich interaction domain 3C gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1342507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12181510 ARID3C AT-rich interaction domain 3C gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1342507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12181510 ARID3C AT-rich interaction domain 3C gene DOID:630 genetic disease ISO RGD:1342507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181510 ARID3C AT-rich interaction domain 3C gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1342507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12181510 ARID3C AT-rich interaction domain 3C gene DOID:9562 primary ciliary dyskinesia ISO RGD:1342507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12181510 ARID3C AT-rich interaction domain 3C gene DOID:9870 galactosemia ISO RGD:1342507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12181534 LOC100684983 cytochrome c oxidase subunit 7B, mitochondrial gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12181534 LOC100684983 cytochrome c oxidase subunit 7B, mitochondrial gene DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ISO RGD:1344241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia PMID:24550228|PMID:28492532 12181534 LOC100684983 cytochrome c oxidase subunit 7B, mitochondrial gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:1344241 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome PMID:28492532 12181534 LOC100684983 cytochrome c oxidase subunit 7B, mitochondrial gene DOID:0111808 linear skin defects with multiple congenital anomalies 1 ISO RGD:1344241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12181534 LOC100684983 cytochrome c oxidase subunit 7B, mitochondrial gene DOID:0111877 linear skin defects with multiple congenital anomalies 2 ISO RGD:1344241 D RGD:7240710 20180130 OMIM 12181534 LOC100684983 cytochrome c oxidase subunit 7B, mitochondrial gene DOID:0111877 linear skin defects with multiple congenital anomalies 2 ISO RGD:1344241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 2 PMID:23122588|PMID:25741868|PMID:9747372 12181534 LOC100684983 cytochrome c oxidase subunit 7B, mitochondrial gene DOID:12849 autistic disorder ISO RGD:1344241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12181534 LOC100684983 cytochrome c oxidase subunit 7B, mitochondrial gene DOID:1838 Menkes disease ISO RGD:1344241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:28492532 12181541 SYCE3 synaptonemal complex central element protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:2303881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12181541 SYCE3 synaptonemal complex central element protein 3 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:2303881 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12181541 SYCE3 synaptonemal complex central element protein 3 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:2303881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12181541 SYCE3 synaptonemal complex central element protein 3 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:2303881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12181541 SYCE3 synaptonemal complex central element protein 3 gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:2303881 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 12181541 SYCE3 synaptonemal complex central element protein 3 gene DOID:10581 metachromatic leukodystrophy ISO RGD:2303881 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12181541 SYCE3 synaptonemal complex central element protein 3 gene DOID:1059 intellectual disability ISO RGD:2303881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12181541 SYCE3 synaptonemal complex central element protein 3 gene DOID:630 genetic disease ISO RGD:2303881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181550 FAM200A family with sequence similarity 200 member A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12181550 FAM200A family with sequence similarity 200 member A gene DOID:630 genetic disease ISO RGD:1604968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181569 MIR134 microRNA mir-134 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1347046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 12181569 MIR134 microRNA mir-134 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1347046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12181569 MIR134 microRNA mir-134 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1347046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12181569 MIR134 microRNA mir-134 gene DOID:9452 fatty liver disease ISO RGD:1347046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12181573 FAM25A family with sequence similarity 25 member A gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1347345 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 12181573 FAM25A family with sequence similarity 25 member A gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1347345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 12181573 FAM25A family with sequence similarity 25 member A gene DOID:630 genetic disease ISO RGD:1347345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181644 ZNF786 zinc finger protein 786 gene DOID:630 genetic disease ISO RGD:1604748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181683 ZSCAN4 zinc finger and SCAN domain containing 4 gene DOID:630 genetic disease ISO RGD:1351601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181699 SLC23A1 solute carrier family 23 member 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1342862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12181699 SLC23A1 solute carrier family 23 member 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1342862 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12181699 SLC23A1 solute carrier family 23 member 1 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1342862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12181699 SLC23A1 solute carrier family 23 member 1 gene DOID:11162 respiratory failure ISO RGD:1342862 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11984597 12181699 SLC23A1 solute carrier family 23 member 1 gene DOID:13580 cholestasis ISO RGD:1342862 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18706437 12181699 SLC23A1 solute carrier family 23 member 1 gene DOID:630 genetic disease ISO RGD:1342862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181699 SLC23A1 solute carrier family 23 member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342862 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12181699 SLC23A1 solute carrier family 23 member 1 gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1342862 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11984597 12181699 SLC23A1 solute carrier family 23 member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12181699 SLC23A1 solute carrier family 23 member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1342862 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12181723 GOLM2 golgi membrane protein 2 gene DOID:2717 Bloom syndrome ISO RGD:1603284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12181723 GOLM2 golgi membrane protein 2 gene DOID:630 genetic disease ISO RGD:1603284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181723 GOLM2 golgi membrane protein 2 gene DOID:9256 colorectal cancer ISO RGD:1603284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12181741 ANXA3 annexin A3 gene DOID:1686 glaucoma ISO RGD:2119 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:18055803|REF_RGD_ID:2289160 12181741 ANXA3 annexin A3 gene DOID:630 genetic disease ISO RGD:735865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181741 ANXA3 annexin A3 gene DOID:7148 rheumatoid arthritis ISO RGD:735865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 12181741 ANXA3 annexin A3 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:735865 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12181741 ANXA3 annexin A3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12181741 ANXA3 annexin A3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12181741 ANXA3 annexin A3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:735865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21435174 12181741 ANXA3 annexin A3 gene DOID:9074 systemic lupus erythematosus ISO RGD:735865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 12181761 SLC39A8 solute carrier family 39 member 8 gene DOID:0060480 left ventricular noncompaction ISO RGD:1317895 D RGD:9068941 20220825 MouseDO OMIM:604169 12181761 SLC39A8 solute carrier family 39 member 8 gene DOID:0070266 congenital disorder of glycosylation type IIn ISO RGD:1317894 D RGD:7240710 20180130 OMIM 12181761 SLC39A8 solute carrier family 39 member 8 gene DOID:0070266 congenital disorder of glycosylation type IIn ISO RGD:1317894 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: SLC39A8-CDG PMID:23806086|PMID:24088041|PMID:25687216|PMID:25741868|PMID:26637978|PMID:26637979|PMID:2809732|PMID:28492532|PMID:29453449|PMID:32313153|PMID:34768831 12181761 SLC39A8 solute carrier family 39 member 8 gene DOID:3633 beta-mannosidosis ISO RGD:1317894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 12181761 SLC39A8 solute carrier family 39 member 8 gene DOID:630 genetic disease ISO RGD:1317894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12181761 SLC39A8 solute carrier family 39 member 8 gene DOID:9000304 Manganese Poisoning ISO RGD:1317894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29429640 12181761 SLC39A8 solute carrier family 39 member 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12181783 FGF19 fibroblast growth factor 19 gene DOID:0060180 colitis ISO RGD:1550725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27580383 12181783 FGF19 fibroblast growth factor 19 gene DOID:1059 intellectual disability ISO RGD:1344909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12181783 FGF19 fibroblast growth factor 19 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:620166 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 12181783 FGF19 fibroblast growth factor 19 gene DOID:5082 liver cirrhosis ISO RGD:1550725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28673684 12181783 FGF19 fibroblast growth factor 19 gene DOID:630 genetic disease ISO RGD:1344909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181783 FGF19 fibroblast growth factor 19 gene DOID:684 hepatocellular carcinoma ISO RGD:1344909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25822088 12181783 FGF19 fibroblast growth factor 19 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1344909 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12181783 FGF19 fibroblast growth factor 19 gene DOID:9004250 Hepatic Insufficiency ISO RGD:1550725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28673684 12181783 FGF19 fibroblast growth factor 19 gene DOID:9005749 Necrosis ISO RGD:1550725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24699334 12181783 FGF19 fibroblast growth factor 19 gene DOID:9006646 Metabolic Syndrome ISO RGD:1550725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28673684 12181783 FGF19 fibroblast growth factor 19 gene DOID:9007692 Insulin Resistance ISO RGD:1550725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28673684 12181783 FGF19 fibroblast growth factor 19 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1344909 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12181788 CYB5D2 cytochrome b5 domain containing 2 gene DOID:630 genetic disease ISO RGD:1606739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181796 CREB1 cAMP responsive element binding protein 1 gene DOID:0060001 withdrawal disorder ISO RGD:730886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18596687 12181796 CREB1 cAMP responsive element binding protein 1 gene DOID:11446 sciatic neuropathy ISO RGD:620218 D RGD:9068941 20200609 RGD protein:increased phosphorylation:nucleus PMID:19918364|REF_RGD_ID:10059430 12181796 CREB1 cAMP responsive element binding protein 1 gene DOID:11870 Pick's disease ISO RGD:730886 D RGD:9068941 20200609 RGD PMID:16496165|REF_RGD_ID:10047401 12181796 CREB1 cAMP responsive element binding protein 1 gene DOID:11870 Pick's disease ISO RGD:730886 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex PMID:17548164|REF_RGD_ID:10047402 12181796 CREB1 cAMP responsive element binding protein 1 gene DOID:12858 Huntington's disease ISO RGD:620218 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:neuron: PMID:16420411|REF_RGD_ID:10059577 12181796 CREB1 cAMP responsive element binding protein 1 gene DOID:12858 Huntington's disease ISO RGD:730887 D RGD:9068941 20200609 RGD PMID:11967539|REF_RGD_ID:734817 12181796 CREB1 cAMP responsive element binding protein 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:730887 D RGD:9068941 20200609 RGD PMID:9616213|REF_RGD_ID:734815 12181796 CREB1 cAMP responsive element binding protein 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:730886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12181796 CREB1 cAMP responsive element binding protein 1 gene DOID:224 transient cerebral ischemia ISO RGD:620218 D RGD:9068941 20200609 RGD PMID:10077326|REF_RGD_ID:10047405 12181796 CREB1 cAMP responsive element binding protein 1 gene DOID:2316 brain ischemia treatment ISO RGD:620218 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression,decreased phosphorylation:brain: PMID:23644141|REF_RGD_ID:10059580 12181796 CREB1 cAMP responsive element binding protein 1 gene DOID:2560 morphine dependence ISO RGD:730886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11717377 12181796 CREB1 cAMP responsive element binding protein 1 gene DOID:4621 holoprosencephaly ISO RGD:730887 D RGD:9068941 20200609 RGD protein:increased localization: prechordal mesoderm, nucleus PMID:18338389|REF_RGD_ID:12801437 12181796 CREB1 cAMP responsive element binding protein 1 gene DOID:5419 schizophrenia ISO RGD:730886 D RGD:9068941 20200609 RGD protein:increased expression:cerebellar vermis PMID:10891039|REF_RGD_ID:10047412 12181796 CREB1 cAMP responsive element binding protein 1 gene DOID:5844 myocardial infarction ISO RGD:730886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19027736 12181796 CREB1 cAMP responsive element binding protein 1 gene DOID:630 genetic disease ISO RGD:730886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181796 CREB1 cAMP responsive element binding protein 1 gene DOID:8923 skin melanoma ISO RGD:730886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29179997 12181796 CREB1 cAMP responsive element binding protein 1 gene DOID:9000669 Ventricular Dysfunction, Right treatment ISO RGD:620218 D RGD:9068941 20220916 RGD PMID:22523357|REF_RGD_ID:155226858 12181796 CREB1 cAMP responsive element binding protein 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29179997 12181796 CREB1 cAMP responsive element binding protein 1 gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:620218 D RGD:9068941 20220916 RGD PMID:17368520|PMID:29310813|REF_RGD_ID:155226865|REF_RGD_ID:155226868 12181796 CREB1 cAMP responsive element binding protein 1 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:620218 D RGD:9068941 20200609 RGD PMID:15862029|REF_RGD_ID:10059365 12181796 CREB1 cAMP responsive element binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12181796 CREB1 cAMP responsive element binding protein 1 gene DOID:9005086 Angiomatoid Fibrous Histiocytoma ISO RGD:730886 D RGD:7240710 20180130 OMIM 12181796 CREB1 cAMP responsive element binding protein 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11717377|PMID:16359811|PMID:18596687 12181796 CREB1 cAMP responsive element binding protein 1 gene DOID:9008023 Memory Disorders ISO RGD:620218 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:14670355|REF_RGD_ID:10059396 12181796 CREB1 cAMP responsive element binding protein 1 gene DOID:9452 fatty liver disease ISO RGD:730887 D RGD:9068941 20200609 RGD PMID:14614508|REF_RGD_ID:734818 12181796 CREB1 cAMP responsive element binding protein 1 gene DOID:9993 hypoglycemia ISO RGD:730887 D RGD:9068941 20200609 RGD PMID:11557984|REF_RGD_ID:734816 12181816 GPT2 glutamic--pyruvic transaminase 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1313502 D RGD:9068941 20200609 RGD protein:increased activity:plasma PMID:22922605|REF_RGD_ID:14975251 12181816 GPT2 glutamic--pyruvic transaminase 2 gene DOID:0080546 non-alcoholic fatty liver ISO RGD:1313503 D RGD:9068941 20200609 RGD protein:increased expression:liver,serum PMID:18710424|REF_RGD_ID:14975250 12181816 GPT2 glutamic--pyruvic transaminase 2 gene DOID:0111041 glycogen storage disease IXb ISO RGD:1313502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 12181816 GPT2 glutamic--pyruvic transaminase 2 gene DOID:1059 intellectual disability ISO RGD:1313502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild PMID:25741868|PMID:28492532 12181816 GPT2 glutamic--pyruvic transaminase 2 gene DOID:3571 liver cancer treatment ISO RGD:1313502 D RGD:9068941 20200609 RGD PMID:22922605|REF_RGD_ID:14975251 12181816 GPT2 glutamic--pyruvic transaminase 2 gene DOID:630 genetic disease ISO RGD:1313502 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24901346|PMID:25741868|PMID:25758935|PMID:27601654|PMID:28374019|PMID:29882329|PMID:32214227 12181816 GPT2 glutamic--pyruvic transaminase 2 gene DOID:9002164 Mental Retardation, Autosomal Recessive 49 ISO RGD:1313502 D RGD:7240710 20180130 OMIM 12181816 GPT2 glutamic--pyruvic transaminase 2 gene DOID:9002164 Mental Retardation, Autosomal Recessive 49 ISO RGD:1313502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GPT2-related neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and spastic paraplegia PMID:25741868|PMID:25758935|PMID:27601654|PMID:28374019|PMID:29226631|PMID:29882329|PMID:31471722|PMID:32214227 12181816 GPT2 glutamic--pyruvic transaminase 2 gene DOID:9002164 Mental Retardation, Autosomal Recessive 49 ISO RGD:1313502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GPT2-related neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and spastic paraplegia PMID:24901346|PMID:25741868|PMID:25758935|PMID:27601654|PMID:28374019|PMID:29226631|PMID:29882329|PMID:31471722|PMID:32214227 12181816 GPT2 glutamic--pyruvic transaminase 2 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1313502 D RGD:9068941 20200609 RGD protein:increased activity:plasma PMID:22922605|REF_RGD_ID:14975251 12181816 GPT2 glutamic--pyruvic transaminase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:30057029 12181816 GPT2 glutamic--pyruvic transaminase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1305462 D RGD:9068941 20200609 RGD protein:increased expression, activity:serum: PMID:19085960|REF_RGD_ID:14975249 12181816 GPT2 glutamic--pyruvic transaminase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1313503 D RGD:9068941 20200609 RGD protein:increased expression, activity:serum: PMID:19085960|REF_RGD_ID:14975249 12181816 GPT2 glutamic--pyruvic transaminase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1305462 D RGD:9068941 20200609 RGD protein:increased expression, activity:liver: PMID:25865565|REF_RGD_ID:11342811 12181816 GPT2 glutamic--pyruvic transaminase 2 gene DOID:9452 fatty liver disease ISO RGD:1313503 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:15122758|REF_RGD_ID:14975241 12181816 GPT2 glutamic--pyruvic transaminase 2 gene DOID:9970 obesity ISO RGD:1313503 D RGD:9068941 20200609 RGD protein:increased expression, activity:liver: PMID:25865565|REF_RGD_ID:11342811 12181828 PGF placental growth factor gene DOID:0060180 colitis ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:20142801|REF_RGD_ID:6483587 12181828 PGF placental growth factor gene DOID:1059 intellectual disability ISO RGD:1347328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12181828 PGF placental growth factor gene DOID:10591 pre-eclampsia ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:21756887|REF_RGD_ID:6483577 12181828 PGF placental growth factor gene DOID:10591 pre-eclampsia ISO RGD:619850 D RGD:9068941 20200609 RGD PMID:20720407|REF_RGD_ID:6483779 12181828 PGF placental growth factor gene DOID:10763 hypertension ISO RGD:1347328 D RGD:9068941 20200609 RGD associated with Pregnancy Complications, Cardiovascular;mRNA:decreased expression:placenta PMID:12808329|REF_RGD_ID:1642387 12181828 PGF placental growth factor gene DOID:10923 sickle cell anemia ISO RGD:1347328 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20040765|REF_RGD_ID:6483588 12181828 PGF placental growth factor gene DOID:11400 pyelonephritis ISO RGD:1347328 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:20213923|REF_RGD_ID:6483586 12181828 PGF placental growth factor gene DOID:12930 dilated cardiomyopathy ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:21900081|REF_RGD_ID:6483574 12181828 PGF placental growth factor gene DOID:1577 limited scleroderma ISO RGD:1347328 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22461185|REF_RGD_ID:6483571 12181828 PGF placental growth factor gene DOID:1612 breast cancer disease_progression ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:22270936|REF_RGD_ID:6483604 12181828 PGF placental growth factor gene DOID:1798 pancreatic endocrine carcinoma disease_progression ISO RGD:1347328 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23463017|REF_RGD_ID:14349029 12181828 PGF placental growth factor gene DOID:1798 pancreatic endocrine carcinoma treatment ISO RGD:1347328 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:26861455|REF_RGD_ID:14349030 12181828 PGF placental growth factor gene DOID:1798 pancreatic endocrine carcinoma treatment ISO RGD:1550266 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:26861455|REF_RGD_ID:14349030 12181828 PGF placental growth factor gene DOID:1824 status epilepticus ISO RGD:619850 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, hippocampus PMID:22079325|REF_RGD_ID:6483774 12181828 PGF placental growth factor gene DOID:1826 epilepsy ISO RGD:1347328 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:22160787|REF_RGD_ID:6483572 12181828 PGF placental growth factor gene DOID:1936 atherosclerosis ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:19952000|REF_RGD_ID:6483589 12181828 PGF placental growth factor gene DOID:2316 brain ischemia ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:16901914|REF_RGD_ID:6483783 12181828 PGF placental growth factor gene DOID:2841 asthma ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:22268141|REF_RGD_ID:6483605 12181828 PGF placental growth factor gene DOID:2841 asthma ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:22268141|REF_RGD_ID:6483605 12181828 PGF placental growth factor gene DOID:3068 glioblastoma disease_progression ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:20458050|REF_RGD_ID:6483585 12181828 PGF placental growth factor gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:22119626|REF_RGD_ID:6483573 12181828 PGF placental growth factor gene DOID:3328 temporal lobe epilepsy ISO RGD:1347328 D RGD:9068941 20200609 RGD protein:increased expression:temporal cortex PMID:22079325|REF_RGD_ID:6483774 12181828 PGF placental growth factor gene DOID:3407 carotid artery disease severity ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:17157858|REF_RGD_ID:6483596 12181828 PGF placental growth factor gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:1550266 D RGD:9068941 20200609 RGD associated with obesity PMID:26861455|REF_RGD_ID:14349030 12181828 PGF placental growth factor gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1347328 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:14981951|REF_RGD_ID:13506645 12181828 PGF placental growth factor gene DOID:4977 lymphedema ISO RGD:1347328 D RGD:9068941 20200609 RGD associated with Elephantiasis, Filarial;protein:increased expression:plasma PMID:20889885|REF_RGD_ID:6483608 12181828 PGF placental growth factor gene DOID:5082 liver cirrhosis ISO RGD:1347328 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, serum PMID:21520176|REF_RGD_ID:6483607 12181828 PGF placental growth factor gene DOID:5844 myocardial infarction ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:22114497|REF_RGD_ID:6483773 12181828 PGF placental growth factor gene DOID:5844 myocardial infarction ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:20649603|REF_RGD_ID:6483584 12181828 PGF placental growth factor gene DOID:5844 myocardial infarction ISO RGD:619850 D RGD:9068941 20200609 RGD PMID:21329947|REF_RGD_ID:6483777 12181828 PGF placental growth factor gene DOID:6000 congestive heart failure ISO RGD:619850 D RGD:9068941 20200609 RGD PMID:19327525|REF_RGD_ID:6483590 12181828 PGF placental growth factor gene DOID:630 genetic disease ISO RGD:1347328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181828 PGF placental growth factor gene DOID:6432 pulmonary hypertension ISO RGD:1347328 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;protein:increased expression:plasma PMID:20040765|REF_RGD_ID:6483588 12181828 PGF placental growth factor gene DOID:6432 pulmonary hypertension ISO RGD:1347328 D RGD:9068941 20200609 RGD associated with Heart Defects, Congenital PMID:20195855|REF_RGD_ID:6483610 12181828 PGF placental growth factor gene DOID:7147 ankylosing spondylitis ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:21873332|REF_RGD_ID:6483576 12181828 PGF placental growth factor gene DOID:7148 rheumatoid arthritis ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:19180491|REF_RGD_ID:6483591 12181828 PGF placental growth factor gene DOID:783 end stage renal disease ISO RGD:619850 D RGD:9068941 20200609 RGD PMID:16543713|REF_RGD_ID:1642390 12181828 PGF placental growth factor gene DOID:874 bacterial pneumonia ISO RGD:1550266 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16702604|REF_RGD_ID:6483601 12181828 PGF placental growth factor gene DOID:8778 Crohn's disease ISO RGD:1347328 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17980128|REF_RGD_ID:6483592 12181828 PGF placental growth factor gene DOID:8947 diabetic retinopathy ISO RGD:619850 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:21408222|REF_RGD_ID:6483775 12181828 PGF placental growth factor gene DOID:9000656 Penetrating Wounds ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:17194893|REF_RGD_ID:6483614 12181828 PGF placental growth factor gene DOID:9001547 Tibial Fractures ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:16614757|REF_RGD_ID:6483602 12181828 PGF placental growth factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:21520176|REF_RGD_ID:6483607 12181828 PGF placental growth factor gene DOID:9001573 Experimental Liver Cirrhosis disease_progression ISO RGD:619850 D RGD:9068941 20200609 RGD PMID:17935226|REF_RGD_ID:1643338 12181828 PGF placental growth factor gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:1347328 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:21988672|REF_RGD_ID:6483606 12181828 PGF placental growth factor gene DOID:9002457 Experimental Arthritis ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:19180491|REF_RGD_ID:6483591 12181828 PGF placental growth factor gene DOID:9002498 Wallerian Degeneration ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:21264946|REF_RGD_ID:6483582 12181828 PGF placental growth factor gene DOID:9002669 Hypoxia ISO RGD:619850 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17240241|REF_RGD_ID:1642388 12181828 PGF placental growth factor gene DOID:9003281 Spontaneous Abortions ISO RGD:1347328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12181828 PGF placental growth factor gene DOID:9003507 Premature Birth ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:20822327|REF_RGD_ID:6483609 12181828 PGF placental growth factor gene DOID:9004484 Sepsis ISO RGD:1550266 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16702604|REF_RGD_ID:6483601 12181828 PGF placental growth factor gene DOID:9005372 Inflammation ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:19356732|REF_RGD_ID:6483611 12181828 PGF placental growth factor gene DOID:9005372 Inflammation severity ISO RGD:1347328 D RGD:9068941 20200609 RGD associated with Arteriosclerosis;protein:increased expression:artery PMID:17157858|REF_RGD_ID:6483596 12181828 PGF placental growth factor gene DOID:9005372 Inflammation severity ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:15911697|REF_RGD_ID:1642386 12181828 PGF placental growth factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619850 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:placenta, trophoblast cell PMID:17917370|REF_RGD_ID:6483782 12181828 PGF placental growth factor gene DOID:9005930 Endotoxemia ISO RGD:1550266 D RGD:9068941 20200609 RGD protein:increased expression:multiple PMID:16702604|REF_RGD_ID:6483601 12181828 PGF placental growth factor gene DOID:9007096 Stroke ISO RGD:1550266 D RGD:9068941 20200609 RGD protein:increased expression:brain, astrocyte PMID:11939589|REF_RGD_ID:6483603 12181828 PGF placental growth factor gene DOID:9007102 Myocardial Ischemia ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:18192038|REF_RGD_ID:6483613 12181828 PGF placental growth factor gene DOID:9074 systemic lupus erythematosus ISO RGD:1347328 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19276301|REF_RGD_ID:6483612 12181828 PGF placental growth factor gene DOID:9675 pulmonary emphysema ISO RGD:1550266 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, plasma PMID:17023518|REF_RGD_ID:5135245 12181828 PGF placental growth factor gene DOID:9743 diabetic neuropathy ISO RGD:1347328 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21056561|REF_RGD_ID:6483583 12181828 PGF placental growth factor gene DOID:9970 obesity ISO RGD:1347328 D RGD:9068941 20200609 RGD associated with Pre-eclampsia;protein:increased expression:serum PMID:16769024|REF_RGD_ID:1642384 12181828 PGF placental growth factor gene DOID:9970 obesity ISO RGD:1347328 D RGD:9068941 20200609 RGD associated with pancreatic cancer;protein:increased expression:plasma (human) PMID:26861455|REF_RGD_ID:14349030 12181828 PGF placental growth factor gene DOID:9970 obesity ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:16020476|REF_RGD_ID:1642385 12181883 PTEN phosphatase and tensin homolog gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:69119 D RGD:7240710 20230505 OMIM 12181883 PTEN phosphatase and tensin homolog gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1 | ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA | ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10606430|PMID:10698713|PMID:10749983|PMID:10772829|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11504908|PMID:11685670|PMID:11875759|PMID:11918710|PMID:11939587|PMID:11948419|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12808147|PMID:12833416|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14623110|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16619501|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16952599|PMID:17167516|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18558293|PMID:18725974|PMID:18767981|PMID:18986487|PMID:19265751|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:19968660|PMID:20018398|PMID:20085938|PMID:20194734|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20881644|PMID:20926450|PMID:20962022|PMID:21103832|PMID:21194675|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22381246|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22962422|PMID:23066114|PMID:23160955|PMID:23161105|PMID:23315997|PMID:2333580|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23613428|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23934111|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24136893|PMID:24292679|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25288137|PMID:25326635|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25875300|PMID:25910213|PMID:25980754|PMID:26099045|PMID:26124082|PMID:26229595|PMID:26246517|PMID:26376867|PMID:26418532|PMID:26443266|PMID:26467025|PMID:26468640|PMID:26517354|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26898890|PMID:26919320|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28235761|PMID:28263302|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28523199|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28873162|PMID:29273943|PMID:29296277|PMID:29359449|PMID:29371908|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30528446|PMID:30614812|PMID:30659124|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31159747|PMID:31199785|PMID:31209962|PMID:31336731|PMID:31594918|PMID:31664961|PMID:32162695|PMID:32185379|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32442409|PMID:32461654|PMID:32664367|PMID:32832836|PMID:32885271|PMID:33077954|PMID:33083010|PMID:33088792 12181883 PTEN phosphatase and tensin homolog gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1 | ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA | ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME PMID:33372952|PMID:33471991|PMID:33600059|PMID:33876391|PMID:33887726|PMID:34268892|PMID:34308366|PMID:34625746|PMID:35227301|PMID:36988593|PMID:7728760|PMID:8673088|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9740666|PMID:9794233|PMID:9811831|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:61995 D RGD:9068941 20200609 RGD Protein:increased expression, increased activity:cerebellum (rat) PMID:12700235|REF_RGD_ID:12801493 12181883 PTEN phosphatase and tensin homolog gene DOID:0050787 juvenile polyposis syndrome ISO RGD:69119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 12181883 PTEN phosphatase and tensin homolog gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:69119 D RGD:9068941 20210625 RGD protein:increased expression:oral epithelium (human) PMID:33109573|REF_RGD_ID:127285606 12181883 PTEN phosphatase and tensin homolog gene DOID:0050868 hepatocellular adenoma ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:15199412|REF_RGD_ID:1302555 12181883 PTEN phosphatase and tensin homolog gene DOID:0050868 hepatocellular adenoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27022031 12181883 PTEN phosphatase and tensin homolog gene DOID:0050933 ovarian serous carcinoma exacerbates ISO RGD:69119 D RGD:9068941 20210625 RGD protein:increased expression:ovary, peritoneum (human) PMID:26166715|REF_RGD_ID:11532228 12181883 PTEN phosphatase and tensin homolog gene DOID:0060041 autism spectrum disorder ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30763456 12181883 PTEN phosphatase and tensin homolog gene DOID:0060058 lymphoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22287727 12181883 PTEN phosphatase and tensin homolog gene DOID:0060669 cerebral cavernous malformation ISO RGD:69119 D RGD:9068941 20200609 RGD protein:decreased expression:brain (human) PMID:19061355|REF_RGD_ID:12859036 12181883 PTEN phosphatase and tensin homolog gene DOID:0060867 macrocephaly-autism syndrome ISO RGD:69119 D RGD:7240710 20230505 OMIM 12181883 PTEN phosphatase and tensin homolog gene DOID:0060867 macrocephaly-autism syndrome ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Macrocephaly-autism syndrome | ClinVar Annotator: match by term: Macrocephaly/autism syndrome PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10606430|PMID:10749983|PMID:10772390|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11071384|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11685670|PMID:11918710|PMID:12015762|PMID:12372056|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15805158|PMID:16014636|PMID:16199547|PMID:16752378|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20301661|PMID:20453058|PMID:20600018|PMID:20619739|PMID:20712882|PMID:20718038|PMID:20881644|PMID:20926450|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21659347|PMID:21798997|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22252256|PMID:22266152|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22505997|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22970944|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:2338203|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23744781|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24088041|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24468202|PMID:24728327|PMID:24763289|PMID:24768297|PMID:24778394|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25288137|PMID:25326635|PMID:25326637|PMID:25418537|PMID:25525159|PMID:25527629|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25910213|PMID:25980754|PMID:26124082|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26443266|PMID:26467025|PMID:26579216|PMID:26580448|PMID:26633545|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26800850|PMID:26898890|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27535533|PMID:27878467|PMID:27884173|PMID:27959697|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28251007|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:29048666|PMID:29273943|PMID:29371908|PMID:29373119|PMID:29389947|PMID:29594054|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29970488|PMID:30287823|PMID:30311381|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30763456|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:32150788|PMID:32238909|PMID:32350270|PMID:32442409|PMID:32860008|PMID:33077954|PMID:33083010|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33624935|PMID:33887726|PMID:34268892|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9685848|PMID:9832031|PMID:9832032|PMID:9856571 12181883 PTEN phosphatase and tensin homolog gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:62287 D RGD:9068941 20220825 MouseDO 12181883 PTEN phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11684570|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11918710|PMID:11939587|PMID:11948419|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16287957|PMID:16506206|PMID:16598737|PMID:16685657|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17167516|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18456716|PMID:18510548|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19622968|PMID:19719509|PMID:19763152|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20307669|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20848651|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21869887|PMID:21926107|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22252256|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22382802|PMID:22406018|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22713753|PMID:22962422|PMID:22993021|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23132533|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23331837|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23613428|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23888040|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24123798|PMID:24136893|PMID:24292679|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24641667|PMID:24647592|PMID:24656772|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25418537|PMID:25429968|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25616216|PMID:25640679|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25873899|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26443266|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844 12181883 PTEN phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:26579216|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26681312|PMID:26757417|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27506944|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27819275|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28263302|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28774669|PMID:28873162|PMID:29048666|PMID:29095814|PMID:29117568|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29510612|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30311381|PMID:30327747|PMID:30528446|PMID:30614812|PMID:30793491|PMID:30993208|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31199785|PMID:31209962|PMID:31336731|PMID:31594918|PMID:31674007|PMID:32037394|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32442409|PMID:32461654|PMID:32566746|PMID:33077954|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33624935|PMID:33876391|PMID:7728760|PMID:8071972|PMID:8673088|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9286463|PMID:9288766|PMID:9326929|PMID:9371490|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10772829|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11906179|PMID:11918710|PMID:11939587|PMID:11948419|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16052674|PMID:16199547|PMID:16287957|PMID:16506206|PMID:16619501|PMID:16685657|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16829519|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17167516|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17444818|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18456716|PMID:18510548|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19190598|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19622968|PMID:19719509|PMID:19763152|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20307669|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20848651|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21869887|PMID:21926107|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22252256|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22382802|PMID:22406018|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22713753|PMID:22962422|PMID:22970944|PMID:22993021|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23132533|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23331837|PMID:2333580|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23419777|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23613428|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23888040|PMID:23934111|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24123798|PMID:24136893|PMID:24292679|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24641667|PMID:24647592|PMID:24656772|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25418537|PMID:25429968|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629 12181883 PTEN phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:25549896|PMID:25616216|PMID:25640679|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25873899|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26350204|PMID:26376867|PMID:26418532|PMID:26443266|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26637798|PMID:26681312|PMID:26757417|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:26932208|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27506944|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27819275|PMID:27824329|PMID:27854218|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:27993330|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29117568|PMID:29152901|PMID:29263802|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29496690|PMID:29510612|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30311381|PMID:30327747|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30793491|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31199785|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31664961|PMID:31674007|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32885271|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33624935|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34492006|PMID:34625746|PMID:35101336|PMID:35227301|PMID:36988593|PMID:7728760|PMID:8071972|PMID:8673088|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9286463|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9371490|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome susceptibility ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:missense mutation, nonsense mutations:cds:p.G129E, p.E157X, p.R233X (human) PMID:9140396|REF_RGD_ID:12802361 12181883 PTEN phosphatase and tensin homolog gene DOID:0080202 adenoid cystic carcinoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12181883 PTEN phosphatase and tensin homolog gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26023714 12181883 PTEN phosphatase and tensin homolog gene DOID:0080365 endometrial hyperplasia ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16402032 12181883 PTEN phosphatase and tensin homolog gene DOID:0081000 Cowden syndrome 4 ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden syndrome 4 PMID:25741868 12181883 PTEN phosphatase and tensin homolog gene DOID:0111766 X-linked VACTERL association ISO RGD:69119 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly PMID:10866302|PMID:11748304|PMID:17526800|PMID:17526801|PMID:17942903|PMID:21828076|PMID:22628360|PMID:24778394|PMID:25157968|PMID:25669429|PMID:25741868|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29706350|PMID:29874181 12181883 PTEN phosphatase and tensin homolog gene DOID:10283 prostate cancer ISO RGD:69119 D RGD:7240710 20230505 OMIM 12181883 PTEN phosphatase and tensin homolog gene DOID:10283 prostate cancer ISO RGD:69119 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:10866302|PMID:11684570|PMID:11685670|PMID:14518070|PMID:17392703|PMID:17526800|PMID:17526801|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:22628360|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25677497|PMID:25741868|PMID:25756585|PMID:27477328|PMID:27959697|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29874181|PMID:30287823|PMID:30614812|PMID:32238909|PMID:33077954|PMID:33600059|PMID:9399897|PMID:9467011 12181883 PTEN phosphatase and tensin homolog gene DOID:10283 prostate cancer ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Prostate cancer PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11685670|PMID:11918710|PMID:14518070|PMID:16773562|PMID:17286265|PMID:17392703|PMID:17526800|PMID:17526801|PMID:18767981|PMID:20085938|PMID:20301661|PMID:21194675|PMID:21956414|PMID:22266152|PMID:22381246|PMID:22595938|PMID:22628360|PMID:23335809|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23764071|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24345843|PMID:24778394|PMID:25157968|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:26467025|PMID:27477328|PMID:27959697|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:29594054|PMID:29874181|PMID:30287823|PMID:30614812|PMID:30659124|PMID:32238909|PMID:33077954|PMID:33083010|PMID:33372952|PMID:33600059|PMID:36988593|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9856571 12181883 PTEN phosphatase and tensin homolog gene DOID:10283 prostate cancer disease_progression ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:deletion PMID:17700571|REF_RGD_ID:2292502 12181883 PTEN phosphatase and tensin homolog gene DOID:10283 prostate cancer disease_progression ISO RGD:69119 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:lower in high versus low Gleason score tumors (p<0.05 compared to at least one housekeeping gene) PMID:18336616|REF_RGD_ID:2301729 12181883 PTEN phosphatase and tensin homolog gene DOID:10325 silicosis ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27621875 12181883 PTEN phosphatase and tensin homolog gene DOID:10534 stomach cancer ISO RGD:69119 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10076877|PMID:10400993|PMID:10555148|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11918710|PMID:12614768|PMID:12938083|PMID:1336932|PMID:14566704|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16199547|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17324556|PMID:17526800|PMID:17526801|PMID:17873882|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20194734|PMID:20453058|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22962422|PMID:23161105|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23470840|PMID:23475934|PMID:23764071|PMID:23934111|PMID:23934601|PMID:24033266|PMID:24123798|PMID:24345843|PMID:24375884|PMID:24744697|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25363760|PMID:25647146|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26773036|PMID:27426521|PMID:27477328|PMID:27531073|PMID:27535533|PMID:27824329|PMID:28191890|PMID:28263302|PMID:28286253|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:29594054|PMID:29706350|PMID:29706646|PMID:29785012|PMID:30181857|PMID:30528446|PMID:30614812|PMID:30659124|PMID:31332282|PMID:31336731|PMID:32295079|PMID:32664367|PMID:33083010|PMID:33088792|PMID:33372952|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803|PMID:9832031|PMID:9856571 12181883 PTEN phosphatase and tensin homolog gene DOID:10584 retinitis pigmentosa onset ISO RGD:61995 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (rat) PMID:22432009|REF_RGD_ID:12802340 12181883 PTEN phosphatase and tensin homolog gene DOID:1059 intellectual disability ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10555148|PMID:11332402|PMID:12372056|PMID:17526800|PMID:17576681|PMID:18080326|PMID:21194675|PMID:21291452|PMID:21659347|PMID:21956414|PMID:22703879|PMID:23442912|PMID:23555315|PMID:24763289|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26800850|PMID:27428751|PMID:27477328|PMID:28492532|PMID:29371908|PMID:31144778|PMID:31159747|PMID:31209962|PMID:33471991|PMID:34268892|PMID:9536098 12181883 PTEN phosphatase and tensin homolog gene DOID:10762 portal hypertension ISO RGD:61995 D RGD:9068941 20200609 RGD PMID:14525948|REF_RGD_ID:1581280 12181883 PTEN phosphatase and tensin homolog gene DOID:10763 hypertension ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15646324 12181883 PTEN phosphatase and tensin homolog gene DOID:11054 urinary bladder cancer ISO RGD:62287 D RGD:9068941 20220825 MouseDO OMIM:109800 12181883 PTEN phosphatase and tensin homolog gene DOID:11054 urinary bladder cancer ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:mutations: :multiple PMID:9671402|REF_RGD_ID:2292515 12181883 PTEN phosphatase and tensin homolog gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:69119 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:18190825|REF_RGD_ID:2291891 12181883 PTEN phosphatase and tensin homolog gene DOID:11132 prostatic hypertrophy ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:11175795|REF_RGD_ID:1302553 12181883 PTEN phosphatase and tensin homolog gene DOID:11166 papillomavirus infectious disease ISO RGD:69119 D RGD:9068941 20210625 RGD associated with head and neck squamous cell carcinoma;protein:increased expression:oropharynx (human) PMID:28945300|REF_RGD_ID:127285601 12181883 PTEN phosphatase and tensin homolog gene DOID:11166 papillomavirus infectious disease ISO RGD:69119 D RGD:9068941 20210625 RGD associated with tonsil cancer;protein:increased expression:tonsil (human) PMID:24616007|REF_RGD_ID:127285613 12181883 PTEN phosphatase and tensin homolog gene DOID:1148 polydactyly ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17427195 12181883 PTEN phosphatase and tensin homolog gene DOID:11832 visual epilepsy ISO RGD:62287 D RGD:9068941 20220728 RGD PMID:11726926|REF_RGD_ID:1302554 12181883 PTEN phosphatase and tensin homolog gene DOID:1192 peripheral nervous system neoplasm ISO RGD:69119 D RGD:9068941 20200609 RGD associated with Neurofibromatosis 1;DNA:loss of heterozygosity:cds: (human) PMID:19246520|REF_RGD_ID:12802354 12181883 PTEN phosphatase and tensin homolog gene DOID:12273 anisometropia ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9286463 12181883 PTEN phosphatase and tensin homolog gene DOID:1240 leukemia ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12970779 12181883 PTEN phosphatase and tensin homolog gene DOID:127 leiomyoma ISO RGD:69119 D RGD:9068941 20200609 RGD protein:decreased expression:myometrium PMID:18000229|REF_RGD_ID:2292498 12181883 PTEN phosphatase and tensin homolog gene DOID:127 leiomyoma ISO RGD:69119 D RGD:9068941 20200609 RGD protein:increased phosphorylation:myometrium PMID:17097286|REF_RGD_ID:2292508 12181883 PTEN phosphatase and tensin homolog gene DOID:12849 autistic disorder ISO RGD:69119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:16506206|PMID:16704655|PMID:19457929|PMID:21956414|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26246517|PMID:26534844|PMID:27514801|PMID:28492532|PMID:28523199|PMID:29296277|PMID:9288766 12181883 PTEN phosphatase and tensin homolog gene DOID:12849 autistic disorder ISO RGD:69119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:16506206|PMID:16704655|PMID:19457929|PMID:20926450|PMID:21956414|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26246517|PMID:26534844|PMID:27514801|PMID:28492532|PMID:28523199|PMID:29296277|PMID:29706350|PMID:29785012|PMID:9288766|PMID:9600246 12181883 PTEN phosphatase and tensin homolog gene DOID:13042 persistent fetal circulation syndrome ISO RGD:62287 D RGD:9068941 20220825 MouseDO OMIM:265380 12181883 PTEN phosphatase and tensin homolog gene DOID:13482 Proteus syndrome ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Proteus-like syndrome PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:11685670|PMID:12471211|PMID:14518070|PMID:17392703|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:27477328|PMID:27535533|PMID:27959697|PMID:28492532|PMID:28526761|PMID:30287823|PMID:30614812|PMID:32238909|PMID:33077954|PMID:33600059|PMID:9399897|PMID:9467011 12181883 PTEN phosphatase and tensin homolog gene DOID:13608 biliary atresia ISO RGD:69119 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:25487473|REF_RGD_ID:12832754 12181883 PTEN phosphatase and tensin homolog gene DOID:1380 endometrial cancer ISO RGD:62287 D RGD:9068941 20220825 MouseDO OMIM:608089 12181883 PTEN phosphatase and tensin homolog gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11685670 12181883 PTEN phosphatase and tensin homolog gene DOID:14566 disease of cellular proliferation ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:10866302|PMID:11504908|PMID:11875759|PMID:12085208|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23399955|PMID:23470840|PMID:25157968|PMID:25741868|PMID:26517354|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:33077954|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:1470 major depressive disorder ISO RGD:69119 D RGD:9068941 20210625 RGD protein:increased expression:occipital cortex (human) PMID:12969265|REF_RGD_ID:127285604 12181883 PTEN phosphatase and tensin homolog gene DOID:1520 colon carcinoma ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:10555148|PMID:12372056|PMID:21194675|PMID:21659347|PMID:21956414|PMID:22703879|PMID:23442912|PMID:23555315|PMID:24763289|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26800850|PMID:27428751|PMID:27477328|PMID:28492532|PMID:29371908|PMID:31144778|PMID:31159747|PMID:31209962|PMID:33471991|PMID:34268892 12181883 PTEN phosphatase and tensin homolog gene DOID:1612 breast cancer ISO RGD:69119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:11918710|PMID:14569134|PMID:14623110|PMID:16199547|PMID:16773562|PMID:17526801|PMID:20712882|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21869887|PMID:22558107|PMID:23315997|PMID:23399955|PMID:24033266|PMID:24136893|PMID:25132236|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26580448|PMID:26898890|PMID:27535533|PMID:28008555|PMID:28418444|PMID:28492532|PMID:29043291|PMID:29706350|PMID:29785012|PMID:9467011|PMID:9619835|PMID:9788441 12181883 PTEN phosphatase and tensin homolog gene DOID:1612 breast cancer disease_progression ISO RGD:69119 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:12055674|REF_RGD_ID:2292514 12181883 PTEN phosphatase and tensin homolog gene DOID:1749 squamous cell carcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 12181883 PTEN phosphatase and tensin homolog gene DOID:1793 pancreatic cancer ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19917848 12181883 PTEN phosphatase and tensin homolog gene DOID:1826 epilepsy ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:25669429|PMID:25741868|PMID:26467025|PMID:27535533 12181883 PTEN phosphatase and tensin homolog gene DOID:1909 melanoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10866302|PMID:1097835|PMID:10978354|PMID:11476841|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16007494|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21956414|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:2018 hyperinsulinism ISO RGD:61995 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:18421022|REF_RGD_ID:2292519 12181883 PTEN phosphatase and tensin homolog gene DOID:2043 hepatitis B exacerbates ISO RGD:62287 D RGD:9068941 20210625 RGD mRNA:decreased expression:liver (mouse) PMID:31604033|REF_RGD_ID:127285593 12181883 PTEN phosphatase and tensin homolog gene DOID:219 colon cancer ISO RGD:69119 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon (human) PMID:21806946|REF_RGD_ID:12859043 12181883 PTEN phosphatase and tensin homolog gene DOID:2226 myeloproliferative neoplasm ISO RGD:69119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable PMID:28492532|PMID:35101336 12181883 PTEN phosphatase and tensin homolog gene DOID:224 transient cerebral ischemia ISO RGD:61995 D RGD:9068941 20200609 RGD PMID:12414116|REF_RGD_ID:1358425 12181883 PTEN phosphatase and tensin homolog gene DOID:2256 osteochondrodysplasia ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:18832389|REF_RGD_ID:12859038 12181883 PTEN phosphatase and tensin homolog gene DOID:2394 ovarian cancer ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:24033266|PMID:24055113|PMID:25741868|PMID:25980754|PMID:27535533|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32234455|PMID:32350270|PMID:32832836|PMID:32885271|PMID:33471991 12181883 PTEN phosphatase and tensin homolog gene DOID:2394 ovarian cancer ameliorates ISO RGD:69119 D RGD:9068941 20210625 RGD human gene and cells in a mouse model PMID:18347155|REF_RGD_ID:127285605 12181883 PTEN phosphatase and tensin homolog gene DOID:2526 prostate adenocarcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:255 hemangioma ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemangioma PMID:21194675|PMID:28492532|PMID:9467011 12181883 PTEN phosphatase and tensin homolog gene DOID:264 hemangiopericytoma ISO RGD:69119 D RGD:9068941 20221110 RGD protein:decreased expression:anterior temporal lobe PMID:26951238|REF_RGD_ID:155663351 12181883 PTEN phosphatase and tensin homolog gene DOID:2671 transitional cell carcinoma ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011|PMID:27535533|PMID:28492532|PMID:29706350 12181883 PTEN phosphatase and tensin homolog gene DOID:2841 asthma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17982072 12181883 PTEN phosphatase and tensin homolog gene DOID:2843 long QT syndrome ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21097842 12181883 PTEN phosphatase and tensin homolog gene DOID:2870 endometrial adenocarcinoma ameliorates ISO RGD:1319700 D RGD:9068941 20210625 RGD PMID:32843721|REF_RGD_ID:127285600 12181883 PTEN phosphatase and tensin homolog gene DOID:2871 endometrial carcinoma ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10866302|PMID:10920277|PMID:11504908|PMID:11948419|PMID:16014636|PMID:16199547|PMID:17576681|PMID:17942903|PMID:18767981|PMID:1945792|PMID:20085938|PMID:20600018|PMID:21103832|PMID:21194675|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22327138|PMID:23399955|PMID:23470840|PMID:24033266|PMID:24055113|PMID:24292679|PMID:24766807|PMID:25157968|PMID:25741868|PMID:25980754|PMID:26619011|PMID:26795104|PMID:27535533|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:29931205|PMID:30311380|PMID:32350270|PMID:32832836|PMID:32885271|PMID:7728760|PMID:8980400|PMID:9259288|PMID:9326929|PMID:9467011|PMID:9536098|PMID:9740666|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:299 adenocarcinoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17909629 12181883 PTEN phosphatase and tensin homolog gene DOID:303 substance-related disorder ISO RGD:61995 D RGD:9068941 20200609 RGD PMID:16474401|REF_RGD_ID:2292548 12181883 PTEN phosphatase and tensin homolog gene DOID:305 carcinoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9326929 12181883 PTEN phosphatase and tensin homolog gene DOID:3068 glioblastoma ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:10400993|PMID:10555148|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11504908|PMID:11875759|PMID:11948419|PMID:1336932|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16773562|PMID:16952599|PMID:17526800|PMID:17526801|PMID:17873882|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22479427|PMID:22491738|PMID:22595938|PMID:23335809|PMID:23349303|PMID:23361946|PMID:23399955|PMID:23470840|PMID:23475934|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25527629|PMID:25741868|PMID:26467025|PMID:26619011|PMID:26773036|PMID:26798346|PMID:27426521|PMID:27477328|PMID:27535533|PMID:28286253|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:30614812|PMID:31159747|PMID:31336731|PMID:32350270|PMID:33077954|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:3070 high grade glioma ISO RGD:69119 D RGD:7240710 20230505 OMIM 12181883 PTEN phosphatase and tensin homolog gene DOID:3070 high grade glioma ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 2 PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11685670|PMID:11918710|PMID:12085208|PMID:14518070|PMID:16773562|PMID:17286265|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17873882|PMID:18767981|PMID:19340001|PMID:19458356|PMID:19829307|PMID:20085938|PMID:20301661|PMID:21194675|PMID:21956414|PMID:22266152|PMID:22381246|PMID:22491738|PMID:22595938|PMID:22628360|PMID:23335809|PMID:23349303|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23764071|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24345843|PMID:24778394|PMID:24809327|PMID:25157968|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:26467025|PMID:26773036|PMID:27221918|PMID:27477328|PMID:27535533|PMID:27959697|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28755079|PMID:29373119|PMID:29594054|PMID:29874181|PMID:30287823|PMID:30614812|PMID:30659124|PMID:32238909|PMID:33077954|PMID:33083010|PMID:33372952|PMID:33600059|PMID:36988593|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9856571 12181883 PTEN phosphatase and tensin homolog gene DOID:3151 skin squamous cell carcinoma ameliorates ISO RGD:1556939|RGD:1323418 D RGD:9068941 20210625 RGD PMID:24582960|REF_RGD_ID:126928134 12181883 PTEN phosphatase and tensin homolog gene DOID:3153 lipomatosis ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11748304 12181883 PTEN phosphatase and tensin homolog gene DOID:3247 rhabdomyosarcoma ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10848731|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11918710|PMID:16773562|PMID:17286265|PMID:18767981|PMID:20085938|PMID:21194675|PMID:21956414|PMID:22266152|PMID:22381246|PMID:23335809|PMID:23470840|PMID:23764071|PMID:23934601|PMID:24033266|PMID:24345843|PMID:25157968|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28526761|PMID:28655553|PMID:29594054|PMID:30614812|PMID:30659124|PMID:33083010|PMID:33372952|PMID:36988593|PMID:9259288|PMID:9467011|PMID:9856571 12181883 PTEN phosphatase and tensin homolog gene DOID:3314 angiomyolipoma ISO RGD:69119 D RGD:9068941 20200609 RGD protein:increased expression:kidney (human) PMID:22737271|REF_RGD_ID:12802360 12181883 PTEN phosphatase and tensin homolog gene DOID:3315 lipoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9286463 12181883 PTEN phosphatase and tensin homolog gene DOID:3459 breast carcinoma ISO RGD:69119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:16773562|PMID:21194675|PMID:28492532|PMID:9467011 12181883 PTEN phosphatase and tensin homolog gene DOID:3565 meningioma ISO RGD:69119 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Meningioma PMID:12085208|PMID:17873882|PMID:19340001|PMID:19458356|PMID:19829307|PMID:22491738|PMID:23349303|PMID:23442912|PMID:24809327|PMID:25741868|PMID:26773036|PMID:27221918|PMID:27535533|PMID:28492532|PMID:28755079|PMID:29373119|PMID:30287823 12181883 PTEN phosphatase and tensin homolog gene DOID:363 uterine cancer ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:37 skin disease ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19321504 12181883 PTEN phosphatase and tensin homolog gene DOID:3717 gastric adenocarcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:3742 bladder squamous cell carcinoma disease_progression ISO RGD:69119 D RGD:9068941 20210625 RGD associated with schistosomiasis;protein:decreased expression:urothelium (human) PMID:26916953|REF_RGD_ID:127285612 12181883 PTEN phosphatase and tensin homolog gene DOID:3907 lung squamous cell carcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:3908 lung non-small cell carcinoma ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:10400993|PMID:10555148|PMID:10920277|PMID:10923032|PMID:11504908|PMID:1336932|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16952599|PMID:17526800|PMID:17873882|PMID:18558293|PMID:18725974|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20453058|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22479427|PMID:22491738|PMID:23335809|PMID:23349303|PMID:23470840|PMID:23475934|PMID:24778394|PMID:25288137|PMID:25741868|PMID:26467025|PMID:26773036|PMID:27426521|PMID:28286253|PMID:28492532|PMID:28526761|PMID:30528446|PMID:30614812|PMID:31336731|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803 12181883 PTEN phosphatase and tensin homolog gene DOID:3910 lung adenocarcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 12181883 PTEN phosphatase and tensin homolog gene DOID:3962 thyroid gland follicular carcinoma ISO RGD:62287 D RGD:9068941 20220825 MouseDO OMIM:188470 12181883 PTEN phosphatase and tensin homolog gene DOID:4450 renal cell carcinoma ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:4450 renal cell carcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:69119 D RGD:9068941 20200609 RGD PMID:15821467|REF_RGD_ID:2292513 12181883 PTEN phosphatase and tensin homolog gene DOID:4586 familial meningioma ISO RGD:69119 D RGD:7240710 20230505 OMIM 12181883 PTEN phosphatase and tensin homolog gene DOID:4586 familial meningioma ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11685670|PMID:11918710|PMID:11939587|PMID:14518070|PMID:14566704|PMID:16014636|PMID:16773562|PMID:17286265|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17898811|PMID:17942903|PMID:18767981|PMID:19457929|PMID:20085938|PMID:20301661|PMID:20600018|PMID:20926450|PMID:21194675|PMID:21659347|PMID:21828076|PMID:21956414|PMID:22266152|PMID:22381246|PMID:22595938|PMID:22628360|PMID:23335809|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23764071|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24345843|PMID:24375884|PMID:24766807|PMID:24778394|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:25875300|PMID:26467025|PMID:26468640|PMID:27477328|PMID:27531073|PMID:27959697|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:29594054|PMID:29706350|PMID:29785012|PMID:29874181|PMID:30287823|PMID:30311380|PMID:30614812|PMID:30659124|PMID:32238909|PMID:32350270|PMID:32366478|PMID:33077954|PMID:33083010|PMID:33372952|PMID:33600059|PMID:33876391|PMID:33887726|PMID:36988593|PMID:9259288|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9600246|PMID:9856571 12181883 PTEN phosphatase and tensin homolog gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:69119 D RGD:9068941 20220519 RGD protein:decreased expression:liver (human) PMID:24796583|REF_RGD_ID:152177907 12181883 PTEN phosphatase and tensin homolog gene DOID:4947 cholangiocarcinoma ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:23376645|REF_RGD_ID:12802341 12181883 PTEN phosphatase and tensin homolog gene DOID:4947 cholangiocarcinoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27022031 12181883 PTEN phosphatase and tensin homolog gene DOID:5041 esophageal cancer ISO RGD:69119 D RGD:9068941 20220630 RGD protein:decreased expression:esophagus (human) PMID:27188433|REF_RGD_ID:152995510 12181883 PTEN phosphatase and tensin homolog gene DOID:5041 esophageal cancer treatment ISO RGD:69119 D RGD:9068941 20210625 RGD human gene and cells in a mouse model PMID:20378992|REF_RGD_ID:127285592 12181883 PTEN phosphatase and tensin homolog gene DOID:5082 liver cirrhosis ISO RGD:62287 D RGD:9068941 20210625 RGD associated with schistosomiasis;protein, mRNA:decreased expression:liver (mouse) PMID:31907686|REF_RGD_ID:127285596 12181883 PTEN phosphatase and tensin homolog gene DOID:5082 liver cirrhosis ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26023714 12181883 PTEN phosphatase and tensin homolog gene DOID:5409 lung small cell carcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:5411 lung oat cell carcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung oat cell carcinoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:5419 schizophrenia ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12181883 PTEN phosphatase and tensin homolog gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:10866302|PMID:11504908|PMID:11801303|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:11108659|PMID:12938083|PMID:14566704|PMID:16598737|PMID:16773562|PMID:17427195|PMID:17942903|PMID:20395440|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23934111|PMID:24004025|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:28263302|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32295079|PMID:32566746|PMID:9619835 12181883 PTEN phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:11108659|PMID:12938083|PMID:14566704|PMID:16598737|PMID:16773562|PMID:17427195|PMID:17942903|PMID:20395440|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23934111|PMID:24004025|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:28263302|PMID:28492532|PMID:30287823|PMID:32295079|PMID:32566746|PMID:9619835 12181883 PTEN phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:17427195|PMID:17942903|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:28263302|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32295079|PMID:32566746|PMID:9619835 12181883 PTEN phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:14623110|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23315997|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:27535533|PMID:28263302|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32234455|PMID:32295079|PMID:32566746|PMID:33471991|PMID:9619835|PMID:9788441 12181883 PTEN phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:14623110|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23315997|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:27535533|PMID:28263302|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32234455|PMID:32295079|PMID:32566746|PMID:33471991|PMID:36988593|PMID:9619835|PMID:9788441 12181883 PTEN phosphatase and tensin homolog gene DOID:6171 uterine carcinosarcoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:630 genetic disease ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10606430|PMID:10749983|PMID:10848731|PMID:10866302|PMID:11685670|PMID:11918710|PMID:11939587|PMID:12614768|PMID:14518070|PMID:17392703|PMID:17526800|PMID:17576681|PMID:17928923|PMID:17942903|PMID:17954274|PMID:19457929|PMID:20301661|PMID:20600018|PMID:20926450|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22076652|PMID:22381246|PMID:22469695|PMID:22595938|PMID:22970944|PMID:23160955|PMID:23335809|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:24033266|PMID:24052722|PMID:24136893|PMID:24375884|PMID:24766807|PMID:24778394|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25326635|PMID:25525159|PMID:25527629|PMID:25669429|PMID:25741868|PMID:25756585|PMID:25875300|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26468640|PMID:26580448|PMID:26898890|PMID:27477328|PMID:27481051|PMID:27531073|PMID:27535533|PMID:27959697|PMID:28008555|PMID:28086757|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28677221|PMID:29706350|PMID:29706646|PMID:29785012|PMID:30181857|PMID:30287823|PMID:30311380|PMID:30327747|PMID:30614812|PMID:31664961|PMID:32123317|PMID:32238909|PMID:32350270|PMID:32664367|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33600059|PMID:36988593|PMID:9140396|PMID:9256433|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9832032 12181883 PTEN phosphatase and tensin homolog gene DOID:6457 Cowden syndrome ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden disease | ClinVar Annotator: match by term: Cowden syndrome | ClinVar Annotator: match by term: Cowden's syndrome | ClinVar Annotator: match by term: Lhermitte-Duclos disease PMID:10051160|PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10848731|PMID:10920277|PMID:10923032|PMID:11504908|PMID:11685670|PMID:14518070|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16952599|PMID:17392703|PMID:17526800|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18725974|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20453058|PMID:20600018|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22281088|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22520842|PMID:23335809|PMID:23349303|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23886400|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:26376867|PMID:26467025|PMID:26492180|PMID:26773036|PMID:26845104|PMID:27324988|PMID:27426521|PMID:27477328|PMID:27959697|PMID:28286253|PMID:28492532|PMID:28526761|PMID:29663862|PMID:30287823|PMID:30614812|PMID:30793491|PMID:32238909|PMID:33077954|PMID:8071972|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803 12181883 PTEN phosphatase and tensin homolog gene DOID:6457 Cowden syndrome ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cowden disease | ClinVar Annotator: match by term: Cowden syndrome | ClinVar Annotator: match by term: Cowden's syndrome | ClinVar Annotator: match by term: Lhermitte-Duclos disease PMID:10051160|PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11504908|PMID:11685670|PMID:11875759|PMID:12938083|PMID:1336932|PMID:14518070|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16773562|PMID:16952599|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20600018|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22520842|PMID:22595938|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23886400|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:26376867|PMID:26467025|PMID:26492180|PMID:26619011|PMID:26773036|PMID:26798346|PMID:26845104|PMID:27324988|PMID:27426521|PMID:27477328|PMID:27959697|PMID:28286253|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28677221|PMID:29359449|PMID:29663862|PMID:29706350|PMID:29785012|PMID:30287823|PMID:30528446|PMID:30614812|PMID:30793491|PMID:31336731|PMID:31594918|PMID:32162695|PMID:32238909|PMID:33077954|PMID:33208383|PMID:33600059|PMID:33876391|PMID:35227301|PMID:36988593|PMID:8071972|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803|PMID:9735393|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma ISO RGD:62287 D RGD:9068941 20220630 RGD PMID:29303510|REF_RGD_ID:152995524 12181883 PTEN phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma ISO RGD:62287 D RGD:9068941 20220825 MouseDO OMIM:114550 12181883 PTEN phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27022031 12181883 PTEN phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma ISO RGD:69119 D RGD:9068941 20210625 RGD associated with hepatitis B;protein:decreased expression:liver (human) PMID:30690477|REF_RGD_ID:127285603 12181883 PTEN phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:69119 D RGD:9068941 20210625 RGD associated with hepatitis C, liver cirrhosis;protein:decreased expression:liver (human) PMID:12115563|REF_RGD_ID:127285610 12181883 PTEN phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:69119 D RGD:9068941 20210625 RGD protein:decreased expression:liver (human) PMID:12673720|REF_RGD_ID:127285591 12181883 PTEN phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma severity ISO RGD:69119 D RGD:9068941 20220630 RGD protein:decreased expression:liver (human) PMID:29303510|REF_RGD_ID:152995524 12181883 PTEN phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma treatment ISO RGD:61995 D RGD:9068941 20220422 RGD PMID:31801250|REF_RGD_ID:151893509 12181883 PTEN phosphatase and tensin homolog gene DOID:76 stomach disease ISO RGD:61995 D RGD:9068941 20200609 RGD associated with Hypertension, Portal;protein:increased expression:stomach mucosa PMID:14525948|REF_RGD_ID:1581280 12181883 PTEN phosphatase and tensin homolog gene DOID:8029 sporadic breast cancer ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: (human) PMID:15287024|REF_RGD_ID:12859037 12181883 PTEN phosphatase and tensin homolog gene DOID:83 cataract ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:24270425|REF_RGD_ID:12859033 12181883 PTEN phosphatase and tensin homolog gene DOID:8541 Sezary's disease ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 12181883 PTEN phosphatase and tensin homolog gene DOID:8634 prostate carcinoma in situ ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:18268330|REF_RGD_ID:2292497 12181883 PTEN phosphatase and tensin homolog gene DOID:8634 prostate carcinoma in situ ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19081794|PMID:22581815 12181883 PTEN phosphatase and tensin homolog gene DOID:8719 in situ carcinoma ISO RGD:69119 D RGD:9068941 20200609 RGD associated with Endometrial Neoplasms;protein:decreased expression:endometrium PMID:17349568|REF_RGD_ID:2289828 12181883 PTEN phosphatase and tensin homolog gene DOID:874 bacterial pneumonia ameliorates ISO RGD:62287 D RGD:9068941 20210625 RGD myeloid knockout PMID:21527775|REF_RGD_ID:127285594 12181883 PTEN phosphatase and tensin homolog gene DOID:8761 acute megakaryocytic leukemia ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acute megakaryocytic leukemia PMID:10848731|PMID:17941496|PMID:20600018|PMID:21194675|PMID:21343951|PMID:21659347|PMID:22281088|PMID:22520842|PMID:23335809|PMID:23475934|PMID:23886400|PMID:24778394|PMID:25741868|PMID:26376867|PMID:28492532|PMID:29663862|PMID:35227301 12181883 PTEN phosphatase and tensin homolog gene DOID:8923 skin melanoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:8947 diabetic retinopathy ISO RGD:61995 D RGD:9068941 20210219 RGD mRNA, protein:decreased expression:retina PMID:31759996|REF_RGD_ID:41410819 12181883 PTEN phosphatase and tensin homolog gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:69119 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:17672936|REF_RGD_ID:2298701 12181883 PTEN phosphatase and tensin homolog gene DOID:9000039 Spinal Cord Injuries ISO RGD:61995 D RGD:9068941 20230216 RGD mRNA:increased expression:spinal cord: PMID:28601045|REF_RGD_ID:156420142 12181883 PTEN phosphatase and tensin homolog gene DOID:9000040 Hypertrophy ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19211884 12181883 PTEN phosphatase and tensin homolog gene DOID:9000081 Lymphatic Metastasis ISO RGD:69119 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:17919877|REF_RGD_ID:2292499 12181883 PTEN phosphatase and tensin homolog gene DOID:9000081 Lymphatic Metastasis ISO RGD:69119 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:decreased expression:prostate PMID:17163422|REF_RGD_ID:2292507 12181883 PTEN phosphatase and tensin homolog gene DOID:9000466 Prostate Cancer, Somatic ISO RGD:69119 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Prostate cancer, somatic PMID:9371490 12181883 PTEN phosphatase and tensin homolog gene DOID:9000509 Epstein-Barr Virus Infections ISO RGD:69119 D RGD:9068941 20210625 RGD associated with stomach carcinoma;DNA:hypermethylation:promoter (human) PMID:19339266|REF_RGD_ID:127285616 12181883 PTEN phosphatase and tensin homolog gene DOID:9000918 Disease Progression ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20729295 12181883 PTEN phosphatase and tensin homolog gene DOID:9000965 Neoplasm Metastasis ISO RGD:62287 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:18381417|REF_RGD_ID:2292496 12181883 PTEN phosphatase and tensin homolog gene DOID:9000965 Neoplasm Metastasis ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10978354 12181883 PTEN phosphatase and tensin homolog gene DOID:9001527 Congenital Hypomyelinating Neuropathy IAGP D RGD:12801476 20210603 OMIA Colorectal hamartomatous polyposis and ganglioneuromatosis PMID:20952721 12181883 PTEN phosphatase and tensin homolog gene DOID:9002106 Pneumococcal Pneumonia ameliorates ISO RGD:62287 D RGD:9068941 20210625 RGD myeloid knockout PMID:20505137|REF_RGD_ID:127285597 12181883 PTEN phosphatase and tensin homolog gene DOID:9002165 Diabetic Nephropathies ISO RGD:61995 D RGD:9068941 20200609 RGD protein:decreased expression:kidney cortex, glomerulus PMID:16804083|REF_RGD_ID:2292546 12181883 PTEN phosphatase and tensin homolog gene DOID:9002304 Prostatic Neoplasms ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:11175795|PMID:18268330|REF_RGD_ID:1302553|REF_RGD_ID:2292497 12181883 PTEN phosphatase and tensin homolog gene DOID:9002304 Prostatic Neoplasms ISO RGD:69119 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:16421604|PMID:17173048|PMID:19081794|PMID:19396168|PMID:20729295|PMID:21456062|PMID:21714127|PMID:22581815|PMID:22610119|PMID:23248098|PMID:28319090|PMID:29295717|PMID:29335545|PMID:29610475|PMID:32525019|PMID:33129824|PMID:9371490 12181883 PTEN phosphatase and tensin homolog gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:11854455|REF_RGD_ID:2292510 12181883 PTEN phosphatase and tensin homolog gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:10400993|PMID:10555148|PMID:10848731|PMID:10920277|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11918710|PMID:1336932|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17526800|PMID:17873882|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20453058|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22381246|PMID:22479427|PMID:22491738|PMID:23335809|PMID:23349303|PMID:23470840|PMID:23475934|PMID:23764071|PMID:23934601|PMID:24033266|PMID:24345843|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25741868|PMID:26467025|PMID:26773036|PMID:27426521|PMID:28286253|PMID:28492532|PMID:28526761|PMID:28655553|PMID:29594054|PMID:30528446|PMID:30614812|PMID:30659124|PMID:31336731|PMID:33083010|PMID:33372952|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803|PMID:9856571 12181883 PTEN phosphatase and tensin homolog gene DOID:9002762 Ovarian Neoplasms ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11918710|PMID:11948419|PMID:1336932|PMID:14518070|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16014636|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17286265|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20600018|PMID:20619739|PMID:20712882|PMID:20881644|PMID:21103832|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22595938|PMID:23117110|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23764071|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24292679|PMID:24345843|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:26376867|PMID:26467025|PMID:26619011|PMID:26773036|PMID:26795104|PMID:26798346|PMID:27426521|PMID:27477328|PMID:27535533|PMID:27959697|PMID:28235761|PMID:28286253|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28873162|PMID:29359449|PMID:29594054|PMID:29663862|PMID:29706350|PMID:29706633|PMID:30287823|PMID:30528446|PMID:30614812|PMID:30659124|PMID:31336731|PMID:32238909|PMID:33077954|PMID:33083010|PMID:33372952|PMID:33600059|PMID:34308366|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9856571|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:9003816 Macrocephaly ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:10772390|PMID:21828076|PMID:25741868|PMID:28492532 12181883 PTEN phosphatase and tensin homolog gene DOID:9003936 Cardiomegaly ISO RGD:61995 D RGD:9068941 20200609 RGD PMID:16188065|REF_RGD_ID:2292549 12181883 PTEN phosphatase and tensin homolog gene DOID:9003936 Cardiomegaly ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:11448956|REF_RGD_ID:1581282 12181883 PTEN phosphatase and tensin homolog gene DOID:9004009 Reperfusion Injury ISO RGD:61995 D RGD:9068941 20200609 RGD PMID:17239858|REF_RGD_ID:2292538 12181883 PTEN phosphatase and tensin homolog gene DOID:9004009 Reperfusion Injury ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19038262 12181883 PTEN phosphatase and tensin homolog gene DOID:9004118 Experimental Melanoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29179997 12181883 PTEN phosphatase and tensin homolog gene DOID:9004217 Nerve Sheath Neoplasms disease_progression ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:22700876|REF_RGD_ID:12859040 12181883 PTEN phosphatase and tensin homolog gene DOID:9004265 Endometrioid Carcinomas ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity, mutations:multiple (human) PMID:11156411|REF_RGD_ID:12802357 12181883 PTEN phosphatase and tensin homolog gene DOID:9004265 Endometrioid Carcinomas ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:mutations: :multiple PMID:17418409|REF_RGD_ID:2289817 12181883 PTEN phosphatase and tensin homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12181883 PTEN phosphatase and tensin homolog gene DOID:9004464 Skin Neoplasms ISO RGD:62287 D RGD:9068941 20210625 RGD PMID:21771908|REF_RGD_ID:127285609 12181883 PTEN phosphatase and tensin homolog gene DOID:9004547 Thyroid Neoplasms ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:cds: (human) PMID:10793080|REF_RGD_ID:12832747 12181883 PTEN phosphatase and tensin homolog gene DOID:9004547 Thyroid Neoplasms severity ISO RGD:69119 D RGD:9068941 20200609 RGD mRNA:decreased expression:thyroid gland (human) PMID:12203792|REF_RGD_ID:12832749 12181883 PTEN phosphatase and tensin homolog gene DOID:9004575 Neoplasm Invasiveness ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21994956 12181883 PTEN phosphatase and tensin homolog gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:61995 D RGD:9068941 20200609 RGD PMID:15929827|REF_RGD_ID:1581281 12181883 PTEN phosphatase and tensin homolog gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:61995 D RGD:9068941 20200609 RGD associated with Arteriovenous Fistula PMID:22609523|REF_RGD_ID:12801498 12181883 PTEN phosphatase and tensin homolog gene DOID:9004866 Ataxia ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:11726926|REF_RGD_ID:1302554 12181883 PTEN phosphatase and tensin homolog gene DOID:9005172 Lung Neoplasms ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17909629|PMID:27980214 12181883 PTEN phosphatase and tensin homolog gene DOID:9005233 Experimental Mammary Neoplasms onset ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:18381417|REF_RGD_ID:2292496 12181883 PTEN phosphatase and tensin homolog gene DOID:9005369 Hepatomegaly ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:15199412|REF_RGD_ID:1302555 12181883 PTEN phosphatase and tensin homolog gene DOID:9005396 Intimal Hyperplasia ameliorates ISO RGD:69119 D RGD:9068941 20210625 RGD associated with Carotid Artery Injuries, human gene in a rat model PMID:15569824|REF_RGD_ID:127285607 12181883 PTEN phosphatase and tensin homolog gene DOID:9005466 Language Development Disorders ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9286463 12181883 PTEN phosphatase and tensin homolog gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 12181883 PTEN phosphatase and tensin homolog gene DOID:9006534 Nervous System Malformations ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:11685670|PMID:14518070|PMID:17392703|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:27477328|PMID:27959697|PMID:28492532|PMID:28526761|PMID:30287823|PMID:30614812|PMID:32238909|PMID:33077954|PMID:33600059|PMID:9399897|PMID:9467011 12181883 PTEN phosphatase and tensin homolog gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10772829|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16619501|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873882|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194575|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22962422|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26362251|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104 12181883 PTEN phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28774669|PMID:28873162|PMID:29043291|PMID:29048666|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29444762|PMID:29510612|PMID:29533785|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29874181|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30528446|PMID:30614812|PMID:30720243|PMID:30993208|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31336731|PMID:31594918|PMID:32037394|PMID:32190315|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33077954|PMID:33624935|PMID:7728760|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873882|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22962422|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27426521|PMID:27428751 12181883 PTEN phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873882|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22962422|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27426521 12181883 PTEN phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27428751|PMID:27477328|PMID:27481051|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28774669|PMID:28873162|PMID:29048666|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29444762|PMID:29510612|PMID:29533785|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29874181|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30528446|PMID:30614812|PMID:30720243|PMID:30993208|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:31594918|PMID:31871109|PMID:32037394|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33077954|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33624935|PMID:7728760|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9832032|PMID:9856571|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11684570|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873882|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22962422|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592 12181883 PTEN phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27157322|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28774669|PMID:28873162|PMID:29048666|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29444762|PMID:29510612|PMID:29533785|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30528446|PMID:30614812|PMID:30720243|PMID:30993208|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:31594918|PMID:31871109|PMID:32037394|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33077954|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33624935|PMID:7728760|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9832032|PMID:9856571|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11684570|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532 12181883 PTEN phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31871109|PMID:32037394|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33600059|PMID:33624935|PMID:33876391|PMID:33887726|PMID:34625746|PMID:35227301|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318 12181883 PTEN phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31664961|PMID:31871109|PMID:32003824|PMID:32037394|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33600059|PMID:33624935|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34492006|PMID:34625746|PMID:35227301|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045 12181883 PTEN phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26124082|PMID:26157835|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31664961|PMID:31871109|PMID:32003824|PMID:32037394|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32885271|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33600059|PMID:33624935|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34492006|PMID:34625746|PMID:35227301|PMID:36988593|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:9007364 Mouth Neoplasms ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of floor of mouth PMID:10866302|PMID:11504908|PMID:11948419|PMID:17942903|PMID:18767981|PMID:1945792|PMID:20085938|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22327138|PMID:23399955|PMID:23470840|PMID:24292679|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27535533|PMID:28492532|PMID:29706350|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:9007367 Septic Peritonitis ameliorates ISO RGD:62287 D RGD:9068941 20210625 RGD associated with Escherichia Coli Infections PMID:21521784|REF_RGD_ID:127285602 12181883 PTEN phosphatase and tensin homolog gene DOID:9007417 Pseudomonas Infections exacerbates ISO RGD:62287 D RGD:9068941 20210625 RGD PMID:29246444|REF_RGD_ID:127285608 12181883 PTEN phosphatase and tensin homolog gene DOID:9007502 Brain Neoplasms ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11685670|PMID:11918710|PMID:14518070|PMID:16773562|PMID:17286265|PMID:17392703|PMID:17526800|PMID:17526801|PMID:18767981|PMID:18986487|PMID:19265751|PMID:20085938|PMID:20301661|PMID:20533527|PMID:21194675|PMID:21828076|PMID:21956414|PMID:22266152|PMID:22381246|PMID:22595938|PMID:22628360|PMID:23335809|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23633456|PMID:23695273|PMID:23764071|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24345843|PMID:24721394|PMID:24778394|PMID:25157968|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:26467025|PMID:27477328|PMID:27959697|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:29594054|PMID:29874181|PMID:30287823|PMID:30614812|PMID:30659124|PMID:32238909|PMID:33077954|PMID:33083010|PMID:33372952|PMID:33600059|PMID:36988593|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9619835|PMID:9856571 12181883 PTEN phosphatase and tensin homolog gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28823542 12181883 PTEN phosphatase and tensin homolog gene DOID:9007653 Multiple Abnormalities ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18759867 12181883 PTEN phosphatase and tensin homolog gene DOID:9007692 Insulin Resistance ISO RGD:61995 D RGD:9068941 20200609 RGD protein:increased expression, decreased acetylation:liver PMID:18385463|REF_RGD_ID:2292521 12181883 PTEN phosphatase and tensin homolog gene DOID:9007692 Insulin Resistance ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18303120 12181883 PTEN phosphatase and tensin homolog gene DOID:9007692 Insulin Resistance ISO RGD:69119 D RGD:9068941 20210625 RGD protein:increased activity:liver (human) PMID:24367090|REF_RGD_ID:127285595 12181883 PTEN phosphatase and tensin homolog gene DOID:9007715 Endometrial Neoplasms ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12888921|PMID:16402032|PMID:16804899|PMID:9326929 12181883 PTEN phosphatase and tensin homolog gene DOID:9007715 Endometrial Neoplasms ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:cds: (human) PMID:9765621|REF_RGD_ID:12832746 12181883 PTEN phosphatase and tensin homolog gene DOID:9007715 Endometrial Neoplasms ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:9354433|REF_RGD_ID:12832753 12181883 PTEN phosphatase and tensin homolog gene DOID:9007715 Endometrial Neoplasms severity ISO RGD:69119 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium PMID:17317031|REF_RGD_ID:2292506 12181883 PTEN phosphatase and tensin homolog gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19038262 12181883 PTEN phosphatase and tensin homolog gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:62287 D RGD:9068941 20210625 RGD PMID:20951693|REF_RGD_ID:127285611 12181883 PTEN phosphatase and tensin homolog gene DOID:9008086 Developmental Disabilities ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:26467025 12181883 PTEN phosphatase and tensin homolog gene DOID:9008090 Chlamydiaceae Infections ISO RGD:62287 D RGD:9068941 20210625 RGD associated with Experimental Allergic Asthma;mRNA:decreased expression:lung (mouse) PMID:27448447|REF_RGD_ID:41404696 12181883 PTEN phosphatase and tensin homolog gene DOID:9008114 Helicobacter Infections ISO RGD:69119 D RGD:9068941 20210625 RGD associated with gastritis;protein:increased phosphorylation:stomach (human) PMID:26376616|REF_RGD_ID:127285599 12181883 PTEN phosphatase and tensin homolog gene DOID:9008138 Ductal Carcinoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 12181883 PTEN phosphatase and tensin homolog gene DOID:9008237 Hemimegalencephaly ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemimegalencephaly PMID:25741868 12181883 PTEN phosphatase and tensin homolog gene DOID:9008443 Colorectal Neoplasms ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10400993|PMID:10555148|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11504908|PMID:11875759|PMID:11948419|PMID:1336932|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16773562|PMID:16952599|PMID:17526800|PMID:17526801|PMID:17873882|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22479427|PMID:22491738|PMID:22595938|PMID:23335809|PMID:23349303|PMID:23361946|PMID:23399955|PMID:23470840|PMID:23475934|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25527629|PMID:25741868|PMID:26467025|PMID:26619011|PMID:26773036|PMID:26798346|PMID:27426521|PMID:27477328|PMID:27535533|PMID:28286253|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:30614812|PMID:31159747|PMID:31336731|PMID:32350270|PMID:33077954|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:9008731 Craniofacial Abnormalities ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14574156|PMID:17427195|PMID:18759867|PMID:19265751|PMID:19321504|PMID:9286463 12181883 PTEN phosphatase and tensin homolog gene DOID:9008939 Breast Neoplasms ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:10400993|PMID:10555148|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11504908|PMID:11875759|PMID:11948419|PMID:1336932|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16773562|PMID:16952599|PMID:17526800|PMID:17526801|PMID:17873882|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22479427|PMID:22491738|PMID:22595938|PMID:23335809|PMID:23349303|PMID:23361946|PMID:23399955|PMID:23470840|PMID:23475934|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25527629|PMID:25741868|PMID:26467025|PMID:26619011|PMID:26773036|PMID:26798346|PMID:27426521|PMID:27477328|PMID:27535533|PMID:28286253|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:30614812|PMID:31159747|PMID:31336731|PMID:32350270|PMID:33077954|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803|PMID:9915974 12181883 PTEN phosphatase and tensin homolog gene DOID:9008952 Breast Cancer, Familial ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast cancer, familial PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:11684570|PMID:11685670|PMID:14518070|PMID:17392703|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25741868|PMID:25756585|PMID:27477328|PMID:27959697|PMID:28492532|PMID:28526761|PMID:30287823|PMID:30614812|PMID:32238909|PMID:33077954|PMID:33600059|PMID:9399897|PMID:9467011 12181883 PTEN phosphatase and tensin homolog gene DOID:9008952 Breast Cancer, Familial ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:11685670|PMID:14518070|PMID:17392703|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:27477328|PMID:27959697|PMID:28492532|PMID:28526761|PMID:30287823|PMID:30614812|PMID:32238909|PMID:33077954|PMID:33600059|PMID:9399897|PMID:9467011 12181883 PTEN phosphatase and tensin homolog gene DOID:9256 colorectal cancer exacerbates ISO RGD:69119 D RGD:9068941 20210625 RGD protein:increased expression:colorectum, cytoplasm (human) PMID:27661110|REF_RGD_ID:127285614 12181883 PTEN phosphatase and tensin homolog gene DOID:9351 diabetes mellitus ISO RGD:61995 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:inferior vena cava PMID:16961925|REF_RGD_ID:2292543 12181883 PTEN phosphatase and tensin homolog gene DOID:936 brain disease ISO RGD:62287 D RGD:9068941 20220825 MouseDO 12181883 PTEN phosphatase and tensin homolog gene DOID:9408 acute myocardial infarction ISO RGD:61995 D RGD:9068941 20210625 RGD mRNA:decreased expression:heart left ventricle (rat) PMID:26973267|REF_RGD_ID:11526378 12181883 PTEN phosphatase and tensin homolog gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:62287 D RGD:9068941 20230202 RGD PMID:29990866|REF_RGD_ID:155882565 12181883 PTEN phosphatase and tensin homolog gene DOID:9452 fatty liver disease ISO RGD:61995 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:18166358|REF_RGD_ID:2292522 12181883 PTEN phosphatase and tensin homolog gene DOID:9452 fatty liver disease ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:15199412|REF_RGD_ID:1302555 12181883 PTEN phosphatase and tensin homolog gene DOID:9452 fatty liver disease ISO RGD:62287 D RGD:9068941 20220825 MouseDO OMIM:228100 12181883 PTEN phosphatase and tensin homolog gene DOID:9452 fatty liver disease ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27022031 12181883 PTEN phosphatase and tensin homolog gene DOID:9452 fatty liver disease ISO RGD:69119 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:18166358|REF_RGD_ID:2292522 12181883 PTEN phosphatase and tensin homolog gene DOID:9460 uterine corpus cancer ISO RGD:69119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:29706350|PMID:9256433 12181883 PTEN phosphatase and tensin homolog gene DOID:9884 muscular dystrophy treatment ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:24789910|REF_RGD_ID:12859039 12181883 PTEN phosphatase and tensin homolog gene DOID:9923 developmental coordination disorder ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9286463 12181883 PTEN phosphatase and tensin homolog gene DOID:9952 acute lymphoblastic leukemia ISO RGD:62287 D RGD:9068941 20220825 MouseDO OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 12181894 OSBPL9 oxysterol binding protein like 9 gene DOID:630 genetic disease ISO RGD:1323003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181969 TTC17 tetratricopeptide repeat domain 17 gene DOID:1059 intellectual disability ISO RGD:1313426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12181969 TTC17 tetratricopeptide repeat domain 17 gene DOID:630 genetic disease ISO RGD:1313426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181999 FBXO2 F-box protein 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12181999 FBXO2 F-box protein 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732900 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12181999 FBXO2 F-box protein 2 gene DOID:630 genetic disease ISO RGD:732900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12181999 FBXO2 F-box protein 2 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:732900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 12182019 CIB1 calcium and integrin binding 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:732228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12182019 CIB1 calcium and integrin binding 1 gene DOID:10652 Alzheimer's disease ISO RGD:620133 D RGD:9068941 20200609 RGD protein:decreased expression:brain (human) PMID:15885068|REF_RGD_ID:10401854 12182019 CIB1 calcium and integrin binding 1 gene DOID:12858 Huntington's disease ISO RGD:732229 D RGD:9068941 20200609 RGD mRNA:increased expression:head of caudate nucleus (mouse) PMID:24324398|REF_RGD_ID:10401859 12182019 CIB1 calcium and integrin binding 1 gene DOID:2717 Bloom syndrome ISO RGD:732228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12182019 CIB1 calcium and integrin binding 1 gene DOID:630 genetic disease ISO RGD:732228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12182019 CIB1 calcium and integrin binding 1 gene DOID:9006571 Epidermodysplasia Verruciformis 3 ISO RGD:732228 D RGD:7240710 20190315 OMIM 12182019 CIB1 calcium and integrin binding 1 gene DOID:9006571 Epidermodysplasia Verruciformis 3 ISO RGD:732228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3 PMID:19702156|PMID:20982046|PMID:21196704|PMID:228581|PMID:28492532|PMID:28646613|PMID:30068544 12182019 CIB1 calcium and integrin binding 1 gene DOID:9256 colorectal cancer ISO RGD:732228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12182043 ABHD3 abhydrolase domain containing 3, phospholipase gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1321686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 12182043 ABHD3 abhydrolase domain containing 3, phospholipase gene DOID:1059 intellectual disability ISO RGD:1321686 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12182043 ABHD3 abhydrolase domain containing 3, phospholipase gene DOID:630 genetic disease ISO RGD:1321686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182056 GRAMD4 GRAM domain containing 4 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1604385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12182056 GRAMD4 GRAM domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1604385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12182056 GRAMD4 GRAM domain containing 4 gene DOID:630 genetic disease ISO RGD:1604385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182075 ABCF2 ATP binding cassette subfamily F member 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1312673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 12182075 ABCF2 ATP binding cassette subfamily F member 2 gene DOID:2843 long QT syndrome ISO RGD:1312673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 12182075 ABCF2 ATP binding cassette subfamily F member 2 gene DOID:630 genetic disease ISO RGD:1312673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182075 ABCF2 ATP binding cassette subfamily F member 2 gene DOID:9000918 Disease Progression ISO RGD:1312673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12182104 ADA2 adenosine deaminase 2 gene DOID:0080600 COVID-19 ISO RGD:1353390 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12182104 ADA2 adenosine deaminase 2 gene DOID:0111996 immunodeficiency 51 ISO RGD:1353390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12182104 ADA2 adenosine deaminase 2 gene DOID:106 pleural tuberculosis treatment ISO RGD:1353390 D RGD:9068941 20220609 RGD PMID:8656037|REF_RGD_ID:152995258 12182104 ADA2 adenosine deaminase 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1353390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Louis-Bar syndrome PMID:25741868|PMID:27884168|PMID:28492532 12182104 ADA2 adenosine deaminase 2 gene DOID:13096 Sneddon syndrome ISO RGD:1353390 D RGD:7240710 20180130 OMIM 12182104 ADA2 adenosine deaminase 2 gene DOID:13096 Sneddon syndrome ISO RGD:1353390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Idiopathic livedo reticularis with systemic involvement | ClinVar Annotator: match by term: Livedo reticularis and cerebrovascular accidents | ClinVar Annotator: match by term: Sneddon syndrome PMID:12804991|PMID:16199547|PMID:24552284|PMID:24552285|PMID:24737293|PMID:25075844|PMID:25075845|PMID:25075846|PMID:25075847|PMID:25083540|PMID:25278816|PMID:25457153|PMID:25741868|PMID:25888558|PMID:26131734|PMID:26867732|PMID:26914925|PMID:26922074|PMID:27059682|PMID:27252897|PMID:27514238|PMID:28492532|PMID:28493328|PMID:28522451|PMID:28830446|PMID:28974505|PMID:28983775|PMID:28993957|PMID:29391253|PMID:29391272|PMID:29600946|PMID:29951947|PMID:29963054|PMID:30647181|PMID:31008556|PMID:31043544|PMID:31291964|PMID:31393689|PMID:31584751|PMID:31617030|PMID:31652311|PMID:31856934|PMID:32353633|PMID:32531373|PMID:34324127 12182104 ADA2 adenosine deaminase 2 gene DOID:13241 Behcet's disease ISO RGD:1353390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Behcet's syndrome PMID:25741868|PMID:28492532|PMID:28814775|PMID:29681619 12182104 ADA2 adenosine deaminase 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1353390 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:24552284|PMID:24552285|PMID:25075844|PMID:25075845|PMID:25075846|PMID:25083540|PMID:25278816|PMID:25457153|PMID:25741868|PMID:25888558|PMID:26867732|PMID:26914925|PMID:26922074|PMID:27059682|PMID:27252897|PMID:28492532|PMID:28493328|PMID:28522451|PMID:28814775|PMID:28830446|PMID:28983775|PMID:28993957|PMID:29391253|PMID:29391272|PMID:29951947|PMID:31393689 12182104 ADA2 adenosine deaminase 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1353390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:24552284|PMID:24552285|PMID:24737293|PMID:25075844|PMID:25075845|PMID:25075846|PMID:25083540|PMID:25278816|PMID:25457153|PMID:25741868|PMID:25888558|PMID:26867732|PMID:26914925|PMID:26922074|PMID:27059682|PMID:27252897|PMID:27884168|PMID:28492532|PMID:28493328|PMID:28522451|PMID:28814775|PMID:28830446|PMID:28983775|PMID:28993957|PMID:29391253|PMID:29391272|PMID:29951947|PMID:30503522|PMID:30783801|PMID:31008556|PMID:31291964|PMID:31393689|PMID:31584751|PMID:31945408|PMID:32888943 12182104 ADA2 adenosine deaminase 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1353390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:24552284|PMID:24552285|PMID:24737293|PMID:25075844|PMID:25075845|PMID:25075846|PMID:25083540|PMID:25278816|PMID:25457153|PMID:25741868|PMID:25888558|PMID:26867732|PMID:26914925|PMID:26922074|PMID:27059682|PMID:27252897|PMID:28492532|PMID:28493328|PMID:28522451|PMID:28814775|PMID:28830446|PMID:28983775|PMID:28993957|PMID:29391253|PMID:29391272|PMID:29951947|PMID:30503522|PMID:30783801|PMID:31008556|PMID:31291964|PMID:31393689|PMID:31584751|PMID:31945408|PMID:32888943 12182104 ADA2 adenosine deaminase 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:1353390 D RGD:9068941 20220610 RGD protein:increased activity:sputum: PMID:19460251|REF_RGD_ID:152995271 12182104 ADA2 adenosine deaminase 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1353390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:24552284|PMID:24552285|PMID:25075845|PMID:25075846|PMID:25083540|PMID:25457153|PMID:25741868|PMID:25888558|PMID:26131734|PMID:26867732|PMID:26922074|PMID:28492532|PMID:28493328|PMID:28974505|PMID:28993957|PMID:29391253|PMID:31393689|PMID:32353633 12182104 ADA2 adenosine deaminase 2 gene DOID:9002268 Hand and Foot Deformity with Flat Facies ISO RGD:1353390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hand and foot deformity with flat facies PMID:16199547|PMID:24552284|PMID:24552285|PMID:25741868|PMID:28492532|PMID:28493328|PMID:29391253|PMID:29963054|PMID:31393689|PMID:31617030|PMID:31856934 12182104 ADA2 adenosine deaminase 2 gene DOID:9002720 Splenomegaly ISO RGD:1353390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enlarged Spleen PMID:24552284|PMID:24552285|PMID:25741868|PMID:27514238|PMID:28492532 12182104 ADA2 adenosine deaminase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12182104 ADA2 adenosine deaminase 2 gene DOID:9007096 Stroke ISO RGD:1353390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stroke PMID:12804991|PMID:25075847|PMID:25741868|PMID:28492532|PMID:28522451|PMID:30647181|PMID:31393689 12182104 ADA2 adenosine deaminase 2 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1353390 D RGD:7240710 20180130 OMIM 12182104 ADA2 adenosine deaminase 2 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1353390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:12804991|PMID:16199547|PMID:17576681|PMID:22929023|PMID:24033266|PMID:24552284|PMID:24552285|PMID:24737293|PMID:25075844|PMID:25075845|PMID:25075846|PMID:25075847|PMID:25083540|PMID:25278816|PMID:25457153|PMID:25741868|PMID:25888558|PMID:26131734|PMID:26607704|PMID:26867732|PMID:26914925|PMID:26922074|PMID:27059682|PMID:27252897|PMID:27514238|PMID:27930337|PMID:28492532|PMID:28493328|PMID:28522451|PMID:28665179|PMID:28750028|PMID:28805790|PMID:28814775|PMID:28830446|PMID:28974505|PMID:28983775|PMID:28993957|PMID:29271561|PMID:29391253|PMID:29391272|PMID:29600946|PMID:29681619|PMID:29951947|PMID:29963054|PMID:30503522|PMID:30647181|PMID:30692987|PMID:30783801|PMID:31008556|PMID:31015188|PMID:31043544|PMID:31291964|PMID:31393689|PMID:31584751|PMID:31617030|PMID:31652311|PMID:31686313|PMID:31856934|PMID:31945408|PMID:32353633|PMID:32531373|PMID:32643137|PMID:32888943|PMID:33529688|PMID:34324127|PMID:34577178|PMID:9536098 12182104 ADA2 adenosine deaminase 2 gene DOID:9810 polyarteritis nodosa ISO RGD:1353390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa PMID:25741868 12182118 PNKP polynucleotide kinase 3'-phosphatase gene DOID:0050754 ataxia with oculomotor apraxia type 1 ISO RGD:1344743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia PMID:16199547|PMID:20118933|PMID:24033266|PMID:25728773|PMID:25741868|PMID:28492532|PMID:31167812|PMID:32504494 12182118 PNKP polynucleotide kinase 3'-phosphatase gene DOID:0080457 microcephaly, seizures, and developmental delay ISO RGD:1344743 D RGD:7240710 20180130 OMIM 12182118 PNKP polynucleotide kinase 3'-phosphatase gene DOID:0080457 microcephaly, seizures, and developmental delay ISO RGD:1344743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay PMID:10446192|PMID:11704758|PMID:15136689|PMID:16199547|PMID:17576681|PMID:18005052|PMID:18266750|PMID:18414213|PMID:18678442|PMID:18845387|PMID:20118933|PMID:21307862|PMID:21560189|PMID:22508754|PMID:23224214|PMID:23708187|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066567|PMID:27066586|PMID:27125728|PMID:27232581|PMID:27890643|PMID:28492532|PMID:29261713|PMID:29652299|PMID:29655203|PMID:29720203|PMID:30039206|PMID:31061747|PMID:31167812|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32056211|PMID:32347949|PMID:32504494|PMID:32980744|PMID:33654647|PMID:9536098 12182118 PNKP polynucleotide kinase 3'-phosphatase gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1344743 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:10446192|PMID:11112660|PMID:11704758|PMID:15136689|PMID:15381417|PMID:15749016|PMID:16199547|PMID:17576681|PMID:18005052|PMID:18266750|PMID:18414213|PMID:18678442|PMID:18845387|PMID:20118933|PMID:21307862|PMID:21560189|PMID:22055185|PMID:22508754|PMID:23224214|PMID:23708187|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066567|PMID:27066586|PMID:27125728|PMID:27232581|PMID:27890643|PMID:28492532|PMID:29056246|PMID:29243230|PMID:29261713|PMID:29498415|PMID:29652299|PMID:29655203|PMID:29720203|PMID:29924869|PMID:30039206|PMID:31041400|PMID:31061747|PMID:31167812|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32056211|PMID:32347949|PMID:32504494|PMID:32980744|PMID:33654647|PMID:9536098 12182118 PNKP polynucleotide kinase 3'-phosphatase gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1344743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy PMID:25741868 12182118 PNKP polynucleotide kinase 3'-phosphatase gene DOID:0110179 Charcot-Marie-Tooth disease type 2B2 ISO RGD:1344743 D RGD:7240710 20200520 OMIM 12182118 PNKP polynucleotide kinase 3'-phosphatase gene DOID:0110179 Charcot-Marie-Tooth disease type 2B2 ISO RGD:1344743 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 PMID:11112660|PMID:15749016|PMID:16199547|PMID:18414213|PMID:20118933|PMID:24033266|PMID:25728773|PMID:25741868|PMID:26467025|PMID:27066567|PMID:28492532|PMID:29261713|PMID:29655203|PMID:29720203|PMID:30039206|PMID:31061747|PMID:33654647 12182118 PNKP polynucleotide kinase 3'-phosphatase gene DOID:1059 intellectual disability ISO RGD:1344743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20118933|PMID:22508754|PMID:23224214|PMID:25558065|PMID:25728773|PMID:25741868|PMID:28492532|PMID:31436889|PMID:31707899 12182118 PNKP polynucleotide kinase 3'-phosphatase gene DOID:10907 microcephaly ISO RGD:1344743 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20118933 12182118 PNKP polynucleotide kinase 3'-phosphatase gene DOID:1826 epilepsy ISO RGD:1344743 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12182118 PNKP polynucleotide kinase 3'-phosphatase gene DOID:630 genetic disease ISO RGD:1344743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10446192|PMID:11112660|PMID:11704758|PMID:15136689|PMID:15381417|PMID:15749016|PMID:18005052|PMID:18266750|PMID:18414213|PMID:18678442|PMID:18845387|PMID:20118933|PMID:21307862|PMID:21560189|PMID:22055185|PMID:22508754|PMID:23224214|PMID:23708187|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066586|PMID:27125728|PMID:27232581|PMID:27890643|PMID:28492532|PMID:29261713|PMID:29652299|PMID:29655203|PMID:29720203|PMID:29924869|PMID:30039206|PMID:31061747|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32347949|PMID:33654647 12182118 PNKP polynucleotide kinase 3'-phosphatase gene DOID:630 genetic disease ISO RGD:1344743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10446192|PMID:11112660|PMID:11704758|PMID:15136689|PMID:15381417|PMID:15749016|PMID:16199547|PMID:17576681|PMID:18005052|PMID:18266750|PMID:18414213|PMID:18678442|PMID:18845387|PMID:20118933|PMID:21307862|PMID:21560189|PMID:22055185|PMID:22508754|PMID:23224214|PMID:23708187|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066586|PMID:27125728|PMID:27232581|PMID:27890643|PMID:28492532|PMID:29056246|PMID:29261713|PMID:29652299|PMID:29655203|PMID:29720203|PMID:29924869|PMID:30039206|PMID:31061747|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32056211|PMID:32347949|PMID:32980744|PMID:33654647|PMID:9536098 12182118 PNKP polynucleotide kinase 3'-phosphatase gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1344743 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:11112660|PMID:15749016|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29261713|PMID:29655203|PMID:29720203|PMID:30039206|PMID:31061747|PMID:33654647 12182118 PNKP polynucleotide kinase 3'-phosphatase gene DOID:9001793 Generalized Epilepsy ISO RGD:1344743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:18414213|PMID:25741868|PMID:28492532 12182118 PNKP polynucleotide kinase 3'-phosphatase gene DOID:9004565 Ataxia with Oculomotor Apraxia Type 4 ISO RGD:1344743 D RGD:7240710 20180130 OMIM 12182118 PNKP polynucleotide kinase 3'-phosphatase gene DOID:9004565 Ataxia with Oculomotor Apraxia Type 4 ISO RGD:1344743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 PMID:10446192|PMID:11704758|PMID:15136689|PMID:17576681|PMID:18005052|PMID:18266750|PMID:18678442|PMID:18845387|PMID:20118933|PMID:21307862|PMID:21560189|PMID:22508754|PMID:23224214|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:27066567|PMID:27125728|PMID:27890643|PMID:28492532|PMID:29261713|PMID:29652299|PMID:29655203|PMID:29720203|PMID:30039206|PMID:31061747|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32347949|PMID:33654647|PMID:9536098 12182118 PNKP polynucleotide kinase 3'-phosphatase gene DOID:9006534 Nervous System Malformations ISO RGD:1344743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:20118933|PMID:22508754|PMID:23224214|PMID:25558065|PMID:25728773|PMID:25741868|PMID:28492532|PMID:31436889|PMID:31707899|PMID:32056211 12182118 PNKP polynucleotide kinase 3'-phosphatase gene DOID:9008086 Developmental Disabilities ISO RGD:1344743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 12182118 PNKP polynucleotide kinase 3'-phosphatase gene DOID:9008840 DNA Repair-Deficiency Disorders ISO RGD:1344743 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20118933 12182145 SOGA1 suppressor of glucose, autophagy associated 1 gene DOID:2234 focal epilepsy ISO RGD:1352015 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12182145 SOGA1 suppressor of glucose, autophagy associated 1 gene DOID:630 genetic disease ISO RGD:1352015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182167 INTS9 integrator complex subunit 9 gene DOID:630 genetic disease ISO RGD:1603989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182191 GPR156 G protein-coupled receptor 156 gene DOID:630 genetic disease ISO RGD:736790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182208 PAX3 paired box 3 gene DOID:0080016 spina bifida ISO RGD:1351352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12854658|PMID:17149730|PMID:3902948|PMID:6385329 12182208 PAX3 paired box 3 gene DOID:0080074 neural tube defect ISO RGD:1351352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12739027|PMID:12854658|PMID:3293260 12182208 PAX3 paired box 3 gene DOID:0080074 neural tube defect ISO RGD:1552573 D RGD:9068941 20220825 MouseDO OMIM:182940 | OMIM:301410 | OMIM:601634 12182208 PAX3 paired box 3 gene DOID:0080799 sinonasal undifferentiated carcinoma ISO RGD:1351352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859338 12182208 PAX3 paired box 3 gene DOID:0090100 ocular albinism with sensorineural deafness ISO RGD:1351352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness PMID:25741868 12182208 PAX3 paired box 3 gene DOID:0110948 Waardenburg syndrome type 1 ISO RGD:1351352 D RGD:7240710 20200812 OMIM 12182208 PAX3 paired box 3 gene DOID:0110948 Waardenburg syndrome type 1 ISO RGD:1351352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 1 PMID:12414908|PMID:1303193|PMID:1308353|PMID:1347148|PMID:1347149|PMID:16199547|PMID:18325909|PMID:1887852|PMID:20127975|PMID:20199465|PMID:20301703|PMID:20478267|PMID:21965087|PMID:23512835|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24651602|PMID:25525159|PMID:25736269|PMID:25741868|PMID:25991456|PMID:26149688|PMID:26275939|PMID:26467025|PMID:27759048|PMID:28381738|PMID:28492532|PMID:28686331|PMID:29407415|PMID:30311386|PMID:30936914|PMID:30978479|PMID:32747562|PMID:34008892|PMID:34599368|PMID:7573125|PMID:7726174|PMID:7897628|PMID:8019556|PMID:8423616|PMID:8447316|PMID:8490648|PMID:8533800|PMID:858969|PMID:8589691|PMID:8799378|PMID:8845842|PMID:8863157|PMID:9017978|PMID:9067759|PMID:9232624|PMID:9279758|PMID:9302254|PMID:9584079|PMID:9654197|PMID:9856573 12182208 PAX3 paired box 3 gene DOID:0110949 Waardenburg syndrome type 3 ISO RGD:1351352 D RGD:7240710 20180130 OMIM 12182208 PAX3 paired box 3 gene DOID:0110949 Waardenburg syndrome type 3 ISO RGD:1351352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 3 PMID:11683776|PMID:12949970|PMID:1536170|PMID:20127975|PMID:23512835|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26275939|PMID:27759048|PMID:28492532|PMID:29407415|PMID:30311386|PMID:30978479|PMID:32747562|PMID:34008892|PMID:34599368|PMID:7091186|PMID:7726174|PMID:8019556|PMID:8447316 12182208 PAX3 paired box 3 gene DOID:0111336 craniofacial-deafness-hand syndrome ISO RGD:1351352 D RGD:7240710 20180130 OMIM 12182208 PAX3 paired box 3 gene DOID:0111336 craniofacial-deafness-hand syndrome ISO RGD:1351352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniofacial-deafness-hand syndrome PMID:23806086|PMID:24033266|PMID:24088041|PMID:25736269|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29407415|PMID:30311386|PMID:6859126|PMID:8589691|PMID:8664898|PMID:8863157|PMID:9584079|PMID:9856573 12182208 PAX3 paired box 3 gene DOID:1059 intellectual disability ISO RGD:1351352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18325909|PMID:25741868|PMID:28381738|PMID:28492532|PMID:28686331|PMID:29407415 12182208 PAX3 paired box 3 gene DOID:1115 sarcoma ISO RGD:1351352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859338 12182208 PAX3 paired box 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1351352 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:23806086|PMID:24033266|PMID:24088041|PMID:25736269|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29407415|PMID:8589691|PMID:8863157|PMID:9584079|PMID:9856573 12182208 PAX3 paired box 3 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:1351352 D RGD:7240710 20180130 OMIM 12182208 PAX3 paired box 3 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:1351352 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma PMID:20199465|PMID:20478267|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32747562|PMID:8589691|PMID:8799378|PMID:9654197 12182208 PAX3 paired box 3 gene DOID:4202 brain stem glioma ISO RGD:1552573 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain stem: PMID:25330836|REF_RGD_ID:13702891 12182208 PAX3 paired box 3 gene DOID:630 genetic disease ISO RGD:1351352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12182208 PAX3 paired box 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12182208 PAX3 paired box 3 gene DOID:9004538 Hearing Loss ISO RGD:1351352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:28492532|PMID:30311386 12182208 PAX3 paired box 3 gene DOID:9004795 Congenital Hand Deformities ISO RGD:1351352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14556253 12182208 PAX3 paired box 3 gene DOID:9006534 Nervous System Malformations ISO RGD:1351352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7556916 12182208 PAX3 paired box 3 gene DOID:9008681 Deafness ISO RGD:1351352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14556253 12182208 PAX3 paired box 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14556253 12182208 PAX3 paired box 3 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:620431 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart (rat) PMID:15616818|REF_RGD_ID:1580942 12182208 PAX3 paired box 3 gene DOID:9258 Waardenburg's syndrome ISO RGD:1351352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome | ClinVar Annotator: match by term: White forelock (poliosis) syndrome with multiple congenital malformations PMID:12414908|PMID:1308353|PMID:1349198|PMID:20127975|PMID:20301703|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24651602|PMID:25736269|PMID:25741868|PMID:26467025|PMID:26512583|PMID:28492532|PMID:29407415|PMID:30311386|PMID:8447316|PMID:8533800|PMID:8589691|PMID:8863157|PMID:9017978|PMID:9302254|PMID:9584079|PMID:9654197|PMID:9856573 12182219 OSGIN1 oxidative stress induced growth inhibitor 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1607033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12182219 OSGIN1 oxidative stress induced growth inhibitor 1 gene DOID:630 genetic disease ISO RGD:1607033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182219 OSGIN1 oxidative stress induced growth inhibitor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1607033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12182219 OSGIN1 oxidative stress induced growth inhibitor 1 gene DOID:9005126 Malonic Aciduria ISO RGD:1607033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of malonyl-CoA decarboxylase PMID:12955715|PMID:17186413|PMID:28492532 12182219 OSGIN1 oxidative stress induced growth inhibitor 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1607033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12182236 ITGAM integrin subunit alpha M gene DOID:0060189 ileitis ISO RGD:1343608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10647630 12182236 ITGAM integrin subunit alpha M gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1343608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16764927 12182236 ITGAM integrin subunit alpha M gene DOID:0080162 lupus nephritis ISO RGD:1343608 D RGD:9068941 20200609 RGD PMID:21719445|REF_RGD_ID:5147916 12182236 ITGAM integrin subunit alpha M gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1343608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12182236 ITGAM integrin subunit alpha M gene DOID:10952 nephritis ISO RGD:732433 D RGD:9068941 20200609 RGD PMID:21900205|REF_RGD_ID:7207258 12182236 ITGAM integrin subunit alpha M gene DOID:2018 hyperinsulinism ISO RGD:1343608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 12182236 ITGAM integrin subunit alpha M gene DOID:2921 glomerulonephritis ISO RGD:732433 D RGD:9068941 20200609 RGD PMID:19752320|REF_RGD_ID:6907051 12182236 ITGAM integrin subunit alpha M gene DOID:3042 allergic contact dermatitis ISO RGD:1343608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 12182236 ITGAM integrin subunit alpha M gene DOID:4195 hyperglycemia ISO RGD:1343608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 12182236 ITGAM integrin subunit alpha M gene DOID:630 genetic disease ISO RGD:1343608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12182236 ITGAM integrin subunit alpha M gene DOID:9000522 Invasive Candidiasis ISO RGD:732433 D RGD:9068941 20200609 RGD protein: increased expression: kidney PMID:21063074|REF_RGD_ID:7207265 12182236 ITGAM integrin subunit alpha M gene DOID:9002955 Nerve Degeneration ISO RGD:1343608 D RGD:9068941 20201106 CTD CTD Direct Evidence: therapeutic PMID:32375810 12182236 ITGAM integrin subunit alpha M gene DOID:9005125 Lupus Vasculitis, Central Nervous System ISO RGD:1343608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26773105 12182236 ITGAM integrin subunit alpha M gene DOID:9005968 Neuralgia ISO RGD:2926 D RGD:9068941 20200609 RGD mRNA:increased expression:lumbar vertebra PMID:15145554|REF_RGD_ID:1342461 12182236 ITGAM integrin subunit alpha M gene DOID:9007692 Insulin Resistance ISO RGD:1343608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 12182236 ITGAM integrin subunit alpha M gene DOID:9074 systemic lupus erythematosus ISO RGD:1343608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 6 PMID:25741868|PMID:28492532 12182236 ITGAM integrin subunit alpha M gene DOID:9970 obesity ISO RGD:1343608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 12182284 TMED8 transmembrane p24 trafficking protein family member 8 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1347349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 12182284 TMED8 transmembrane p24 trafficking protein family member 8 gene DOID:630 genetic disease ISO RGD:1347349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182297 CYB5R1 cytochrome b5 reductase 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1314495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12182297 CYB5R1 cytochrome b5 reductase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1314495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12182297 CYB5R1 cytochrome b5 reductase 1 gene DOID:630 genetic disease ISO RGD:1314495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182297 CYB5R1 cytochrome b5 reductase 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1314495 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12182297 CYB5R1 cytochrome b5 reductase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12182315 MFSD5 major facilitator superfamily domain containing 5 gene DOID:630 genetic disease ISO RGD:1605912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182321 CLDN1 claudin 1 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:68422 D RGD:9068941 20200609 RGD mRNA:increased expression:distal colon (rat) PMID:31189495|REF_RGD_ID:26884351 12182321 CLDN1 claudin 1 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:68626 D RGD:9068941 20200609 RGD mRNA:increased expression:distal colon (rat) PMID:31189495|REF_RGD_ID:26884351 12182321 CLDN1 claudin 1 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:68627 D RGD:9068941 20200609 RGD mRNA:increased expression:distal colon (rat) PMID:31189495|REF_RGD_ID:26884351 12182321 CLDN1 claudin 1 gene DOID:1749 squamous cell carcinoma ISO RGD:68626 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:33665778 12182321 CLDN1 claudin 1 gene DOID:2773 contact dermatitis ISO RGD:68626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23136956 12182321 CLDN1 claudin 1 gene DOID:289 endometriosis ISO RGD:68626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12182321 CLDN1 claudin 1 gene DOID:3310 atopic dermatitis ISO RGD:68626 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:epidermis: PMID:21163515|REF_RGD_ID:11344875 12182321 CLDN1 claudin 1 gene DOID:5082 liver cirrhosis severity ISO RGD:68422 D RGD:9068941 20200609 RGD associated with hepatitis C, Chronic;mRNA,protein:increased expression:liver (human) PMID:21620107|REF_RGD_ID:26884347 12182321 CLDN1 claudin 1 gene DOID:5082 liver cirrhosis severity ISO RGD:68626 D RGD:9068941 20200609 RGD associated with hepatitis C, Chronic;mRNA,protein:increased expression:liver (human) PMID:21620107|REF_RGD_ID:26884347 12182321 CLDN1 claudin 1 gene DOID:5082 liver cirrhosis severity ISO RGD:68627 D RGD:9068941 20200609 RGD associated with hepatitis C, Chronic;mRNA,protein:increased expression:liver (human) PMID:21620107|REF_RGD_ID:26884347 12182321 CLDN1 claudin 1 gene DOID:5419 schizophrenia ISO RGD:68626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12182321 CLDN1 claudin 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:68626 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:33665778 12182321 CLDN1 claudin 1 gene DOID:630 genetic disease ISO RGD:68626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182321 CLDN1 claudin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:68422 D RGD:9068941 20200609 RGD associated with liver cirrhosis;protein:increased expression:liver (human) PMID:24696415|REF_RGD_ID:26884352 12182321 CLDN1 claudin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:68626 D RGD:9068941 20200609 RGD associated with liver cirrhosis;protein:increased expression:liver (human) PMID:24696415|REF_RGD_ID:26884352 12182321 CLDN1 claudin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:68627 D RGD:9068941 20200609 RGD associated with liver cirrhosis;protein:increased expression:liver (human) PMID:24696415|REF_RGD_ID:26884352 12182321 CLDN1 claudin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:68422 D RGD:9068941 20200609 RGD protein:decreased expression:liver (human) PMID:17270214|REF_RGD_ID:26884348 12182321 CLDN1 claudin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:68422 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:24815833|REF_RGD_ID:26884345 12182321 CLDN1 claudin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:68626 D RGD:9068941 20200609 RGD protein:decreased expression:liver (human) PMID:17270214|REF_RGD_ID:26884348 12182321 CLDN1 claudin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:68626 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:24815833|REF_RGD_ID:26884345 12182321 CLDN1 claudin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:68627 D RGD:9068941 20200609 RGD protein:decreased expression:liver (human) PMID:17270214|REF_RGD_ID:26884348 12182321 CLDN1 claudin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:68627 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:24815833|REF_RGD_ID:26884345 12182321 CLDN1 claudin 1 gene DOID:687 hepatoblastoma severity ISO RGD:68422 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver, embryonic tissue (human) PMID:16647953|REF_RGD_ID:26884349 12182321 CLDN1 claudin 1 gene DOID:687 hepatoblastoma severity ISO RGD:68626 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver, embryonic tissue (human) PMID:16647953|REF_RGD_ID:26884349 12182321 CLDN1 claudin 1 gene DOID:687 hepatoblastoma severity ISO RGD:68627 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver, embryonic tissue (human) PMID:16647953|REF_RGD_ID:26884349 12182321 CLDN1 claudin 1 gene DOID:824 periodontitis ISO RGD:68422 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:epithelium: PMID:22092031|REF_RGD_ID:11344891 12182321 CLDN1 claudin 1 gene DOID:8778 Crohn's disease ISO RGD:68626 D RGD:9068941 20200609 RGD PMID:21748286|REF_RGD_ID:11341809 12182321 CLDN1 claudin 1 gene DOID:8947 diabetic retinopathy treatment ISO RGD:68422 D RGD:9068941 20200609 RGD PMID:25685822|REF_RGD_ID:11341734 12182321 CLDN1 claudin 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:68626 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:33665778 12182321 CLDN1 claudin 1 gene DOID:9001620 Leukoaraiosis ISO RGD:68626 D RGD:9068941 20200609 RGD DNA:SNPs: :rs17501010, rs893051,rs9290927(human) PMID:25956626|REF_RGD_ID:11344876 12182321 CLDN1 claudin 1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:68422 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:21412800|REF_RGD_ID:26884350 12182321 CLDN1 claudin 1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:68626 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:21412800|REF_RGD_ID:26884350 12182321 CLDN1 claudin 1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:68627 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:21412800|REF_RGD_ID:26884350 12182321 CLDN1 claudin 1 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:68626 D RGD:9068941 20200609 RGD associated with intravenous substance abuse;DNA:SNP:promoter, intron:multiple mutations PMID:19674288|REF_RGD_ID:25330352 12182321 CLDN1 claudin 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:68626 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:33665778 12182321 CLDN1 claudin 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:68626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 12182321 CLDN1 claudin 1 gene DOID:9007711 Nisch syndrome ISO RGD:68626 D RGD:7240710 20180130 OMIM 12182321 CLDN1 claudin 1 gene DOID:9007711 Nisch syndrome ISO RGD:68626 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome PMID:12164927|PMID:15521008|PMID:16619213|PMID:25741868|PMID:28492532 12182321 CLDN1 claudin 1 gene DOID:9007730 Burns ISO RGD:68422 D RGD:9068941 20200609 RGD associated with Binge Drinking;protein: decreased tyrosine phosphorylation:intestine mucosa" PMID:22001439|REF_RGD_ID:8655996 12182321 CLDN1 claudin 1 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:68422 D RGD:9068941 20200609 RGD protein:decreased expression:colon: PMID:19929946|REF_RGD_ID:2325127 12182321 CLDN1 claudin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:68626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579870|PMID:24014025 12182321 CLDN1 claudin 1 gene DOID:9778 irritable bowel syndrome ISO RGD:68626 D RGD:9068941 20200609 RGD protein:decreased expression:intestine: PMID:25277410|REF_RGD_ID:11344877 12182330 NR6A1 nuclear receptor subfamily 6 group A member 1 gene DOID:630 genetic disease ISO RGD:1345014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182357 GSDMC gasdermin C gene DOID:630 genetic disease ISO RGD:1319081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182380 CCM2L CCM2 like scaffold protein gene DOID:630 genetic disease ISO RGD:1344204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182419 CREBRF CREB3 regulatory factor gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1603892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 12182419 CREBRF CREB3 regulatory factor gene DOID:630 genetic disease ISO RGD:1603892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182419 CREBRF CREB3 regulatory factor gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:1603892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 12182435 MAST4 microtubule associated serine/threonine kinase family member 4 gene DOID:0050562 West syndrome ISO RGD:1601915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile spasms 12182435 MAST4 microtubule associated serine/threonine kinase family member 4 gene DOID:630 genetic disease ISO RGD:1601915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182435 MAST4 microtubule associated serine/threonine kinase family member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12182479 POLM DNA polymerase mu gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12182479 POLM DNA polymerase mu gene DOID:630 genetic disease ISO RGD:1317912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182480 ADNP2 ADNP homeobox 2 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1605090 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12182480 ADNP2 ADNP homeobox 2 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1605090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 12182480 ADNP2 ADNP homeobox 2 gene DOID:630 genetic disease ISO RGD:1605090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182480 ADNP2 ADNP homeobox 2 gene DOID:6420 pulmonary valve stenosis ISO RGD:1605090 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12182480 ADNP2 ADNP homeobox 2 gene DOID:8445 intestinal volvulus ISO RGD:1605090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12182480 ADNP2 ADNP homeobox 2 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1605090 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 12182480 ADNP2 ADNP homeobox 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12182480 ADNP2 ADNP homeobox 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1605090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12182500 ZNF213 zinc finger protein 213 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1314237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12182500 ZNF213 zinc finger protein 213 gene DOID:1826 epilepsy ISO RGD:1314237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12182500 ZNF213 zinc finger protein 213 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1314237 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12182500 ZNF213 zinc finger protein 213 gene DOID:630 genetic disease ISO RGD:1314237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182513 RIPPLY3 ripply transcriptional repressor 3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1318761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12182513 RIPPLY3 ripply transcriptional repressor 3 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1318761 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12182513 RIPPLY3 ripply transcriptional repressor 3 gene DOID:1826 epilepsy ISO RGD:1318761 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12182513 RIPPLY3 ripply transcriptional repressor 3 gene DOID:630 genetic disease ISO RGD:1318761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182522 MIR206 microRNA mir-206 gene DOID:10487 Hirschsprung's disease ISO RGD:1352988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25792468 12182522 MIR206 microRNA mir-206 gene DOID:10534 stomach cancer ameliorates ISO RGD:1352988 D RGD:9068941 20220324 RGD PMID:23348698|REF_RGD_ID:151665333 12182522 MIR206 microRNA mir-206 gene DOID:10534 stomach cancer disease_progression ISO RGD:1352988 D RGD:9068941 20220310 RGD PMID:25960238|REF_RGD_ID:151665106 12182522 MIR206 microRNA mir-206 gene DOID:1574 alcohol use disorder onset ISO RGD:2325550 D RGD:9068941 20200716 RGD PMID:32135570|REF_RGD_ID:35673317 12182522 MIR206 microRNA mir-206 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1352988 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:22975021|PMID:27538595 12182522 MIR206 microRNA mir-206 gene DOID:9000918 Disease Progression ISO RGD:1352988 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:27538595 12182522 MIR206 microRNA mir-206 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1352988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12182522 MIR206 microRNA mir-206 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1352988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12182522 MIR206 microRNA mir-206 gene DOID:9008939 Breast Neoplasms ISO RGD:1352988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 12182592 ZNF229 zinc finger protein 229 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1348111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12182592 ZNF229 zinc finger protein 229 gene DOID:630 genetic disease ISO RGD:1348111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182644 LOC475707 GPN-loop GTPase 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1319547 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12182644 LOC475707 GPN-loop GTPase 1 gene DOID:630 genetic disease ISO RGD:1319547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182644 LOC475707 GPN-loop GTPase 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:1319547 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:27749845 12182674 OTOP2 otopetrin 2 gene DOID:630 genetic disease ISO RGD:1312497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182688 OR10Q1 olfactory receptor family 10 subfamily Q member 1 gene DOID:1059 intellectual disability ISO RGD:1352906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12182688 OR10Q1 olfactory receptor family 10 subfamily Q member 1 gene DOID:630 genetic disease ISO RGD:1352906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182691 MAVS mitochondrial antiviral signaling protein gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1606258 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12182691 MAVS mitochondrial antiviral signaling protein gene DOID:2366 West Nile fever severity ISO RGD:1614930 D RGD:9068941 20210108 RGD PMID:28094802|REF_RGD_ID:40903045 12182691 MAVS mitochondrial antiviral signaling protein gene DOID:3298 vaccinia treatment ISO RGD:1614930 D RGD:9068941 20210108 RGD PMID:26849062|REF_RGD_ID:40903043 12182691 MAVS mitochondrial antiviral signaling protein gene DOID:3482 plague susceptibility ISO RGD:1614930 D RGD:9068941 20210108 RGD PMID:25064677|REF_RGD_ID:40903046 12182691 MAVS mitochondrial antiviral signaling protein gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1606258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:25741868|PMID:28492532 12182691 MAVS mitochondrial antiviral signaling protein gene DOID:630 genetic disease ISO RGD:1606258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182691 MAVS mitochondrial antiviral signaling protein gene DOID:8469 influenza treatment ISO RGD:1614930 D RGD:9068941 20201225 RGD PMID:31461653|REF_RGD_ID:40902992 12182691 MAVS mitochondrial antiviral signaling protein gene DOID:9000371 influenza A disease_progression ISO RGD:1614930 D RGD:9068941 20210108 RGD PMID:27438481|REF_RGD_ID:40903047 12182691 MAVS mitochondrial antiviral signaling protein gene DOID:9000645 Rotavirus Infections severity ISO RGD:1614930 D RGD:9068941 20210108 RGD PMID:30460894|REF_RGD_ID:40903048 12182691 MAVS mitochondrial antiviral signaling protein gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1606258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 12182691 MAVS mitochondrial antiviral signaling protein gene DOID:9005757 Metapneumovirus infections severity ISO RGD:1614930 D RGD:9068941 20210108 RGD PMID:25953917|REF_RGD_ID:40903044 12182718 AP3M1 adaptor related protein complex 3 subunit mu 1 gene DOID:0110446 dilated cardiomyopathy 1W ISO RGD:734238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:11815424|PMID:16236538|PMID:21681106 12182718 AP3M1 adaptor related protein complex 3 subunit mu 1 gene DOID:630 genetic disease ISO RGD:734238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182718 AP3M1 adaptor related protein complex 3 subunit mu 1 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:734238 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 12182738 MTCL1 microtubule crosslinking factor 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1348438 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:30548255 12182738 MTCL1 microtubule crosslinking factor 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1348438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12182738 MTCL1 microtubule crosslinking factor 1 gene DOID:1059 intellectual disability ISO RGD:1348438 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12182738 MTCL1 microtubule crosslinking factor 1 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1348438 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:23902687|PMID:25741868 12182738 MTCL1 microtubule crosslinking factor 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28166215 12182738 MTCL1 microtubule crosslinking factor 1 gene DOID:630 genetic disease ISO RGD:1348438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182764 KYAT1 kynurenine aminotransferase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1315794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12182764 KYAT1 kynurenine aminotransferase 1 gene DOID:305 carcinoma ISO RGD:1315794 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20663906 12182764 KYAT1 kynurenine aminotransferase 1 gene DOID:630 genetic disease ISO RGD:1315794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182764 KYAT1 kynurenine aminotransferase 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:1315794 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20663906 12182764 KYAT1 kynurenine aminotransferase 1 gene DOID:9002457 Experimental Arthritis ISO RGD:1306912 D RGD:9068941 20200609 RGD PMID:16984225|REF_RGD_ID:2306289 12182812 CRYGC crystallin gamma C gene DOID:0110235 cataract 2 multiple types ISO RGD:736578 D RGD:7240710 20180411 OMIM 12182812 CRYGC crystallin gamma C gene DOID:0110235 cataract 2 multiple types ISO RGD:736578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 2, Coppock-like | ClinVar Annotator: match by term: Cataract 2, multiple types | ClinVar Annotator: match by term: Cataract, Coppock-like | ClinVar Annotator: match by term: Nuclear pulverulent cataract PMID:10521291|PMID:10914683|PMID:12011157|PMID:12601044|PMID:17679936|PMID:18587492|PMID:19204787|PMID:22052681|PMID:22876111|PMID:24033266|PMID:24281366|PMID:25148791|PMID:25741868|PMID:26694549|PMID:27307692|PMID:27535533|PMID:28298635|PMID:28492532|PMID:30450742|PMID:8004095|PMID:8190472 12182812 CRYGC crystallin gamma C gene DOID:0110248 cataract 30 ISO RGD:736578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract, Coppock-like PMID:24281366|PMID:26694549 12182812 CRYGC crystallin gamma C gene DOID:0110839 Usher syndrome type 2C ISO RGD:736578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2C PMID:24033266|PMID:25741868|PMID:28492532 12182812 CRYGC crystallin gamma C gene DOID:14557 primary pulmonary hypertension ISO RGD:736578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12182812 CRYGC crystallin gamma C gene DOID:630 genetic disease ISO RGD:736578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182812 CRYGC crystallin gamma C gene DOID:83 cataract ISO RGD:736578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:24281366|PMID:26694549 12182812 CRYGC crystallin gamma C gene DOID:83 cataract susceptibility ISO RGD:736578 D RGD:9068941 20200609 RGD Coppock-like cataract, OMIM:604307;DNA:transversion:exon:225A>C PMID:10521291|REF_RGD_ID:1601015 12182812 CRYGC crystallin gamma C gene DOID:8466 retinal degeneration ISO RGD:2421 D RGD:9068941 20200609 RGD PMID:16602829|REF_RGD_ID:2317932 12182812 CRYGC crystallin gamma C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12182813 MUC21 mucin 21, cell surface associated gene DOID:0050553 JMP syndrome ISO RGD:1606083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12182813 MUC21 mucin 21, cell surface associated gene DOID:11372 megacolon ISO RGD:1606083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12182813 MUC21 mucin 21, cell surface associated gene DOID:630 genetic disease ISO RGD:1606083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182820 LOC100686546 zinc finger protein OZF gene DOID:10283 prostate cancer ISO RGD:1602053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12182820 LOC100686546 zinc finger protein OZF gene DOID:630 genetic disease ISO RGD:1602053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182837 LOC102157302 keratin-associated protein 2-3-like gene DOID:630 genetic disease ISO RGD:1343099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182846 C5AR1 complement C5a receptor 1 gene DOID:0060903 thrombosis ISO RGD:70553 D RGD:9068941 20200609 RGD associated with Anti-Glomerular Basement Membrane Disease PMID:11422211|REF_RGD_ID:1600652 12182846 C5AR1 complement C5a receptor 1 gene DOID:0080642 Middle East respiratory syndrome treatment ISO RGD:733148 D RGD:9068941 20200625 RGD PMID:30634407|REF_RGD_ID:30309958 12182846 C5AR1 complement C5a receptor 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:733148 D RGD:9068941 20200609 RGD PMID:11292607|REF_RGD_ID:5130168 12182846 C5AR1 complement C5a receptor 1 gene DOID:10652 Alzheimer's disease ISO RGD:1350810 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:12759460|REF_RGD_ID:5130177 12182846 C5AR1 complement C5a receptor 1 gene DOID:11394 adult respiratory distress syndrome treatment ISO RGD:70553 D RGD:9068941 20200609 RGD PMID:16782534|REF_RGD_ID:2303017 12182846 C5AR1 complement C5a receptor 1 gene DOID:1227 neutropenia ISO RGD:70553 D RGD:9068941 20200609 RGD PMID:10516626|REF_RGD_ID:5130180 12182846 C5AR1 complement C5a receptor 1 gene DOID:14115 toxic shock syndrome ISO RGD:1350810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18063050 12182846 C5AR1 complement C5a receptor 1 gene DOID:2841 asthma ISO RGD:70553 D RGD:9068941 20200609 RGD protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 12182846 C5AR1 complement C5a receptor 1 gene DOID:2841 asthma ISO RGD:733148 D RGD:9068941 20200609 RGD PMID:16511606|PMID:20802484|REF_RGD_ID:5129681|REF_RGD_ID:5130166 12182846 C5AR1 complement C5a receptor 1 gene DOID:2841 asthma ISO RGD:733148 D RGD:9068941 20200609 RGD protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 12182846 C5AR1 complement C5a receptor 1 gene DOID:2841 asthma severity ISO RGD:1350810 D RGD:9068941 20200609 RGD protein:increased expression:respiratory tract PMID:15940127|REF_RGD_ID:5129561 12182846 C5AR1 complement C5a receptor 1 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1350810 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 12182846 C5AR1 complement C5a receptor 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1350810 D RGD:9068941 20200609 RGD protein:increased expression:lung, mast cell PMID:19926870|REF_RGD_ID:5130165 12182846 C5AR1 complement C5a receptor 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:70553 D RGD:9068941 20200609 RGD PMID:19050293|REF_RGD_ID:5130169 12182846 C5AR1 complement C5a receptor 1 gene DOID:4483 rhinitis ISO RGD:1350810 D RGD:9068941 20200609 RGD PMID:18538384|REF_RGD_ID:5129559 12182846 C5AR1 complement C5a receptor 1 gene DOID:630 genetic disease ISO RGD:1350810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182846 C5AR1 complement C5a receptor 1 gene DOID:850 lung disease ISO RGD:70553 D RGD:9068941 20200609 RGD Acute Lung Injury;protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 12182846 C5AR1 complement C5a receptor 1 gene DOID:850 lung disease ISO RGD:733148 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:21421909|REF_RGD_ID:5129564 12182846 C5AR1 complement C5a receptor 1 gene DOID:850 lung disease ISO RGD:733148 D RGD:9068941 20200609 RGD Acute Lung Injury associated with Pancreatitis, Acute Necrotizing PMID:11292607|REF_RGD_ID:5130168 12182846 C5AR1 complement C5a receptor 1 gene DOID:850 lung disease ISO RGD:733148 D RGD:9068941 20200609 RGD Acute Lung Injury;protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 12182846 C5AR1 complement C5a receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12182846 C5AR1 complement C5a receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:733148 D RGD:9068941 20200609 RGD PMID:15995705|REF_RGD_ID:1600592 12182846 C5AR1 complement C5a receptor 1 gene DOID:9002906 Multiple Organ Failure ISO RGD:70553 D RGD:9068941 20200609 RGD associated with Aortic Aneurysm, Abdominal PMID:14718840|REF_RGD_ID:5130167 12182846 C5AR1 complement C5a receptor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:70553 D RGD:9068941 20200609 RGD PMID:15158333|PMID:15159277|REF_RGD_ID:1600597|REF_RGD_ID:5129702 12182846 C5AR1 complement C5a receptor 1 gene DOID:9004484 Sepsis ISO RGD:70553 D RGD:9068941 20200609 RGD PMID:18648551|REF_RGD_ID:5130170 12182846 C5AR1 complement C5a receptor 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:70553 D RGD:9068941 20200609 RGD PMID:12897064|REF_RGD_ID:5130176 12182846 C5AR1 complement C5a receptor 1 gene DOID:9005930 Endotoxemia ISO RGD:70553 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:9272704|REF_RGD_ID:70679 12182846 C5AR1 complement C5a receptor 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:733148 D RGD:9068941 20200609 RGD protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 12182846 C5AR1 complement C5a receptor 1 gene DOID:9970 obesity treatment ISO RGD:70553 D RGD:9068941 20200609 RGD PMID:23118029|REF_RGD_ID:7411625 12182858 COL27A1 collagen type XXVII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1350673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12182858 COL27A1 collagen type XXVII alpha 1 chain gene DOID:9007513 Steel Syndrome ISO RGD:1350673 D RGD:7240710 20180130 OMIM 12182858 COL27A1 collagen type XXVII alpha 1 chain gene DOID:9007513 Steel Syndrome ISO RGD:1350673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Steel syndrome PMID:16199547|PMID:24986830|PMID:25741868|PMID:28276056|PMID:28322503|PMID:28492532|PMID:28895531|PMID:31903681|PMID:31913554 12182920 METTL17 methyltransferase like 17 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1601980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12182920 METTL17 methyltransferase like 17 gene DOID:630 genetic disease ISO RGD:1601980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182920 METTL17 methyltransferase like 17 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1601980 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12182935 KMT2E lysine methyltransferase 2E (inactive) gene DOID:0050908 myelodysplastic syndrome ISO RGD:1622294 D RGD:9068941 20200609 RGD PMID:18952892|REF_RGD_ID:9588548 12182935 KMT2E lysine methyltransferase 2E (inactive) gene DOID:0060041 autism spectrum disorder ISO RGD:1320090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12182935 KMT2E lysine methyltransferase 2E (inactive) gene DOID:0060318 acute promyelocytic leukemia severity ISO RGD:1320090 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood, bone marrow, mononuclear cells (human) PMID:24796963|REF_RGD_ID:9588539 12182935 KMT2E lysine methyltransferase 2E (inactive) gene DOID:0070070 autosomal dominant intellectual developmental disorder 40 ISO RGD:1320090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 40 PMID:25741868|PMID:28492532 12182935 KMT2E lysine methyltransferase 2E (inactive) gene DOID:10283 prostate cancer ISO RGD:1320090 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland (human) PMID:24200674|REF_RGD_ID:9587761 12182935 KMT2E lysine methyltransferase 2E (inactive) gene DOID:1240 leukemia ISO RGD:1320090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18818388 12182935 KMT2E lysine methyltransferase 2E (inactive) gene DOID:12849 autistic disorder ISO RGD:1320090 D RGD:9068941 20200609 RGD DNA:insertions, deletions:multiple (human) PMID:25284784|REF_RGD_ID:9588547 12182935 KMT2E lysine methyltransferase 2E (inactive) gene DOID:1612 breast cancer ISO RGD:1320090 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast (human) PMID:23754336|REF_RGD_ID:9588236 12182935 KMT2E lysine methyltransferase 2E (inactive) gene DOID:1826 epilepsy ISO RGD:1320090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868|PMID:31079897 12182935 KMT2E lysine methyltransferase 2E (inactive) gene DOID:4362 cervical cancer ISO RGD:1320090 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:25172963|REF_RGD_ID:9588553 12182935 KMT2E lysine methyltransferase 2E (inactive) gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12182935 KMT2E lysine methyltransferase 2E (inactive) gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1320090 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, T cell, CD4+ (human) PMID:16046540|REF_RGD_ID:9588555 12182935 KMT2E lysine methyltransferase 2E (inactive) gene DOID:630 genetic disease ISO RGD:1320090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31079897|PMID:33004838 12182935 KMT2E lysine methyltransferase 2E (inactive) gene DOID:8692 myeloid leukemia ISO RGD:1320090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18854576 12182935 KMT2E lysine methyltransferase 2E (inactive) gene DOID:9001969 O'Donnell-Luria-Rodan Syndrome ISO RGD:1320090 D RGD:7240710 20190918 OMIM 12182935 KMT2E lysine methyltransferase 2E (inactive) gene DOID:9001969 O'Donnell-Luria-Rodan Syndrome ISO RGD:1320090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebellar vermis | ClinVar Annotator: match by term: O'Donnell-Luria-Rodan syndrome PMID:25741868|PMID:28492532|PMID:31079897 12182935 KMT2E lysine methyltransferase 2E (inactive) gene DOID:9002704 Leukoencephalopathies ISO RGD:1320090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy PMID:25741868 12182935 KMT2E lysine methyltransferase 2E (inactive) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12182935 KMT2E lysine methyltransferase 2E (inactive) gene DOID:9008086 Developmental Disabilities ISO RGD:1320090 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12182966 SLC22A8 solute carrier family 22 member 8 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:732952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12182966 SLC22A8 solute carrier family 22 member 8 gene DOID:1059 intellectual disability ISO RGD:732952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12182966 SLC22A8 solute carrier family 22 member 8 gene DOID:5082 liver cirrhosis ISO RGD:732952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12182966 SLC22A8 solute carrier family 22 member 8 gene DOID:630 genetic disease ISO RGD:732952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182966 SLC22A8 solute carrier family 22 member 8 gene DOID:9001488 Human Influenza ISO RGD:732952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23129053 12182966 SLC22A8 solute carrier family 22 member 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12182966 SLC22A8 solute carrier family 22 member 8 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12182966 SLC22A8 solute carrier family 22 member 8 gene DOID:9452 fatty liver disease ISO RGD:732952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12182981 GALNT15 polypeptide N-acetylgalactosaminyltransferase 15 gene DOID:0060417 3p deletion syndrome ISO RGD:1312992 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12182981 GALNT15 polypeptide N-acetylgalactosaminyltransferase 15 gene DOID:630 genetic disease ISO RGD:1312992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182999 LRRFIP1 LRR binding FLII interacting protein 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1348771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12182999 LRRFIP1 LRR binding FLII interacting protein 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1348771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12182999 LRRFIP1 LRR binding FLII interacting protein 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1348771 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12182999 LRRFIP1 LRR binding FLII interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:1348771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12182999 LRRFIP1 LRR binding FLII interacting protein 1 gene DOID:2661 myoepithelioma ISO RGD:1348771 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12182999 LRRFIP1 LRR binding FLII interacting protein 1 gene DOID:630 genetic disease ISO RGD:1348771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12182999 LRRFIP1 LRR binding FLII interacting protein 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1348771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12182999 LRRFIP1 LRR binding FLII interacting protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348771 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12183028 RANBP1 RAN binding protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12183028 RANBP1 RAN binding protein 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1321469 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12183028 RANBP1 RAN binding protein 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1321469 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12183028 RANBP1 RAN binding protein 1 gene DOID:1059 intellectual disability ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12183028 RANBP1 RAN binding protein 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1321469 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12183028 RANBP1 RAN binding protein 1 gene DOID:11372 megacolon ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12183028 RANBP1 RAN binding protein 1 gene DOID:11446 sciatic neuropathy ISO RGD:1310521 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve (rat) PMID:18667152|REF_RGD_ID:9835000 12183028 RANBP1 RAN binding protein 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1321469 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12183028 RANBP1 RAN binding protein 1 gene DOID:12849 autistic disorder ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12183028 RANBP1 RAN binding protein 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1321469 D RGD:9068941 20200609 RGD protein:decreased expression:heart ventricle, cytoplasm (human) PMID:25341891|REF_RGD_ID:9835001 12183028 RANBP1 RAN binding protein 1 gene DOID:1826 epilepsy ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12183028 RANBP1 RAN binding protein 1 gene DOID:2213 hemorrhagic disease ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 12183028 RANBP1 RAN binding protein 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1321469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12183028 RANBP1 RAN binding protein 1 gene DOID:5419 schizophrenia ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12183028 RANBP1 RAN binding protein 1 gene DOID:5844 myocardial infarction ISO RGD:1310521 D RGD:9068941 20200609 RGD protein:decreased expression:heart ventricle, cytoplasm (rat) PMID:25341891|REF_RGD_ID:9835001 12183028 RANBP1 RAN binding protein 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12183028 RANBP1 RAN binding protein 1 gene DOID:630 genetic disease ISO RGD:1321469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12183028 RANBP1 RAN binding protein 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:1321469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 12183028 RANBP1 RAN binding protein 1 gene DOID:9003871 Venous Thrombosis ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 12183028 RANBP1 RAN binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12183028 RANBP1 RAN binding protein 1 gene DOID:9007661 Dwarfism ISO RGD:1321469 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12183043 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:0050581 brachydactyly ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:22374147|PMID:25741868|PMID:25758993|PMID:26105076|PMID:28492532 12183043 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:0080006 bone development disease ISO RGD:1354405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15805157 12183043 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type PMID:29322508 12183043 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:0081237 acromesomelic dysplasia-3 ISO RGD:1354405 D RGD:7240710 20180130 OMIM 12183043 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:0081237 acromesomelic dysplasia-3 ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 3 PMID:15805157|PMID:22374147|PMID:24129431|PMID:25741868|PMID:25758993|PMID:26105076|PMID:28492532 12183043 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:0110965 brachydactyly type A2 ISO RGD:1354405 D RGD:7240710 20180130 OMIM 12183043 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:0110965 brachydactyly type A2 ISO RGD:1354405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly type A2 PMID:14523231|PMID:16957682|PMID:17576681|PMID:22374147|PMID:25741868|PMID:25758993|PMID:26105076|PMID:28492532|PMID:31769494|PMID:9536098 12183043 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:0110978 brachydactyly type A1D ISO RGD:1354405 D RGD:7240710 20190315 OMIM 12183043 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:0110978 brachydactyly type A1D ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly type A1D PMID:25758993 12183043 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:14557 primary pulmonary hypertension ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic pulmonary arterial hypertension PMID:22374147|PMID:25741868|PMID:25758993|PMID:28492532 12183043 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:2256 osteochondrodysplasia ISO RGD:1354405 D RGD:9068941 20200609 RGD acromesomelic chondrodysplasia and genital anomalies, OMIM:609441, DNA:deletion:exon PMID:15805157|REF_RGD_ID:1600593 12183043 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:2841 asthma ISO RGD:1354405 D RGD:9068941 20200609 RGD protein:decreased expression:bronchus PMID:18292470|REF_RGD_ID:5129470 12183043 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:5426 primary ovarian insufficiency ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12183043 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:630 genetic disease ISO RGD:1354405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12183043 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:6432 pulmonary hypertension ISO RGD:1354405 D RGD:9068941 20200609 RGD PMID:19324947|REF_RGD_ID:5129472 12183043 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:25741868|PMID:30029678 12183043 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12183043 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:9006294 Congenital Limb Deformities ISO RGD:1354405 D RGD:9068941 20200609 RGD type A2 brachydactyly, OMIM:112600; type C brachydactyly, OMIM:113100, with symphalangism, DNA:point mutations:exon:R486W; R486Q PMID:14523231|REF_RGD_ID:1334470 12183043 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:9007888 Primary Pulmonary Hypertension, 3 ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3 PMID:25741868|PMID:28492532 12183043 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:9008296 Eye Abnormalities ISO RGD:1354405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15804571 12183043 BMPR1B bone morphogenetic protein receptor type 1B gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1354405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15804571 12183079 BAZ2B bromodomain adjacent to zinc finger domain 2B gene DOID:12849 autistic disorder ISO RGD:1320334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 12183079 BAZ2B bromodomain adjacent to zinc finger domain 2B gene DOID:630 genetic disease ISO RGD:1320334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12183079 BAZ2B bromodomain adjacent to zinc finger domain 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320334 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:31999386 12183144 LAP3 leucine aminopeptidase 3 gene DOID:0080600 COVID-19 ISO RGD:1317491 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12183144 LAP3 leucine aminopeptidase 3 gene DOID:630 genetic disease ISO RGD:1317491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12183144 LAP3 leucine aminopeptidase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1317491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12183161 PDE4B phosphodiesterase 4B gene DOID:1059 intellectual disability ISO RGD:733361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12183161 PDE4B phosphodiesterase 4B gene DOID:12849 autistic disorder ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18090323 12183161 PDE4B phosphodiesterase 4B gene DOID:1574 alcohol use disorder ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 12183161 PDE4B phosphodiesterase 4B gene DOID:2841 asthma ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21912604 12183161 PDE4B phosphodiesterase 4B gene DOID:3312 bipolar disorder ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18394866 12183161 PDE4B phosphodiesterase 4B gene DOID:37 skin disease ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12183161 PDE4B phosphodiesterase 4B gene DOID:5419 schizophrenia ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16293762|PMID:18394866 12183161 PDE4B phosphodiesterase 4B gene DOID:630 genetic disease ISO RGD:733361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12183161 PDE4B phosphodiesterase 4B gene DOID:670 amphetamine abuse ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12183161 PDE4B phosphodiesterase 4B gene DOID:9007102 Myocardial Ischemia ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12183161 PDE4B phosphodiesterase 4B gene DOID:9007730 Burns ISO RGD:3280 D RGD:9068941 20200609 RGD mRNA:increased expression:extensor digitorum longus muscle PMID:29693432|REF_RGD_ID:13782127 12183161 PDE4B phosphodiesterase 4B gene DOID:9007964 Arsenic Poisoning ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12183161 PDE4B phosphodiesterase 4B gene DOID:9119 acute myeloid leukemia ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12183193 VPS35L VPS35 endosomal protein sorting factor like gene DOID:9008236 Ritscher-Schinzel Syndrome 3 ISO RGD:1603979 D RGD:7240710 20210113 OMIM 12183193 VPS35L VPS35 endosomal protein sorting factor like gene DOID:9008236 Ritscher-Schinzel Syndrome 3 ISO RGD:1603979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 3 PMID:31712251 12183235 FANCM FA complementation group M gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1317358 D RGD:9068941 20200609 RGD PMID:17409780|REF_RGD_ID:11049143 12183235 FANCM FA complementation group M gene DOID:0080872 primary ovarian insufficiency 15 ISO RGD:1317358 D RGD:7240710 20200101 OMIM 12183235 FANCM FA complementation group M gene DOID:0080872 primary ovarian insufficiency 15 ISO RGD:1317358 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 15 PMID:17289582|PMID:18174376|PMID:19379763|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:28492532|PMID:29231814|PMID:30075111|PMID:31700994 12183235 FANCM FA complementation group M gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1317358 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:17289582|PMID:18174376|PMID:19379763|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28881617|PMID:29231814|PMID:29351780|PMID:30075111|PMID:31700994|PMID:33471991 12183235 FANCM FA complementation group M gene DOID:0111916 spermatogenic failure 28 ISO RGD:1317358 D RGD:7240710 20190315 OMIM 12183235 FANCM FA complementation group M gene DOID:0111916 spermatogenic failure 28 ISO RGD:1317358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 28 PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:21681190|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:28033443|PMID:28492532|PMID:2867840|PMID:28678401|PMID:28702895|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30158692|PMID:30426508|PMID:30995915|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32566746|PMID:33471991|PMID:34174131|PMID:9536098 12183235 FANCM FA complementation group M gene DOID:13636 Fanconi anemia ISO RGD:1317358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:21681190|PMID:22406018|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26067930|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27913932|PMID:28033443|PMID:28492532|PMID:2867840|PMID:28678401|PMID:28702895|PMID:28715532|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30676620|PMID:30995915|PMID:31700994|PMID:31991861|PMID:32566746|PMID:9536098 12183235 FANCM FA complementation group M gene DOID:13636 Fanconi anemia ISO RGD:1317358 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:21681190|PMID:22406018|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25640679|PMID:25741868|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27626068|PMID:28033443|PMID:28492532|PMID:28678401|PMID:28702895|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:31263571|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32566746|PMID:32868804|PMID:33471991|PMID:34174131|PMID:9536098 12183235 FANCM FA complementation group M gene DOID:13636 Fanconi anemia ISO RGD:1317358 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:21681190|PMID:22406018|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25640679|PMID:25741868|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27626068|PMID:28033443|PMID:28492532|PMID:28678401|PMID:28702895|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:31263571|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32566746|PMID:32868804|PMID:32906206|PMID:33471991|PMID:34174131|PMID:9536098 12183235 FANCM FA complementation group M gene DOID:13636 Fanconi anemia ISO RGD:1317358 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:21681190|PMID:22406018|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27626068|PMID:27913932|PMID:28033443|PMID:28492532|PMID:2867840|PMID:28678401|PMID:28702895|PMID:28715532|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:28975465|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:30676620|PMID:30995915|PMID:31263571|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32427313|PMID:32566746|PMID:32868804|PMID:32906206|PMID:32994724|PMID:33471991|PMID:34174131|PMID:9536098 12183235 FANCM FA complementation group M gene DOID:14227 azoospermia ISO RGD:1317358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia PMID:17289582|PMID:18174376|PMID:19379763|PMID:23932590|PMID:24003026|PMID:25741868|PMID:26130695|PMID:28492532|PMID:28702895|PMID:28837162|PMID:30075111 12183235 FANCM FA complementation group M gene DOID:2155 malignant ovarian germ cell neoplasm ISO RGD:1317358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant germ cell tumor of ovary PMID:17289582|PMID:18174376|PMID:19379763|PMID:23932590|PMID:24003026|PMID:25741868|PMID:26130695|PMID:28492532|PMID:28702895|PMID:28837162|PMID:30075111 12183235 FANCM FA complementation group M gene DOID:3883 Lynch syndrome ISO RGD:1317358 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma PMID:17289582|PMID:18174376|PMID:19379763|PMID:23932590|PMID:24003026|PMID:25741868|PMID:26130695|PMID:28492532|PMID:28702895|PMID:28837162|PMID:30075111 12183235 FANCM FA complementation group M gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1317358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:32566746 12183235 FANCM FA complementation group M gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1317358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:31428572|PMID:32566746|PMID:33471991|PMID:9536098 12183235 FANCM FA complementation group M gene DOID:630 genetic disease ISO RGD:1317358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:32566746|PMID:33471991 12183235 FANCM FA complementation group M gene DOID:687 hepatoblastoma ISO RGD:1317358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:28492532 12183235 FANCM FA complementation group M gene DOID:768 retinoblastoma ISO RGD:1317358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:25741868 12183235 FANCM FA complementation group M gene DOID:9002912 Fanconi Anemia Complementation Group M ISO RGD:1317358 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia, complementation group M PMID:16116422|PMID:19423727|PMID:19737859|PMID:25741868|PMID:28492532|PMID:33471991 12183235 FANCM FA complementation group M gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1317358 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12183235 FANCM FA complementation group M gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317358 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17289582|PMID:18174376|PMID:19379763|PMID:19737859|PMID:21681190|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26822949|PMID:27626068|PMID:28033443|PMID:28492532|PMID:28678401|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:31263571|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32566746|PMID:32868804|PMID:32906206|PMID:33471991|PMID:34174131 12183235 FANCM FA complementation group M gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17289582|PMID:18174376|PMID:19379763|PMID:19737859|PMID:21681190|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26822949|PMID:27626068|PMID:28033443|PMID:28492532|PMID:28678401|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:30995915|PMID:31263571|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32566746|PMID:32868804|PMID:32906206|PMID:33471991|PMID:34174131 12183235 FANCM FA complementation group M gene DOID:9008952 Breast Cancer, Familial ISO RGD:1317358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:17289582|PMID:18174376|PMID:19379763|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26130695|PMID:28492532|PMID:28702895|PMID:28837162|PMID:29231814|PMID:30075111|PMID:31700994 12183262 SLC39A5 solute carrier family 39 member 5 gene DOID:630 genetic disease ISO RGD:1321159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12183262 SLC39A5 solute carrier family 39 member 5 gene DOID:9008442 Myopia 24, Autosomal Dominant ISO RGD:1321159 D RGD:7240710 20180130 OMIM 12183262 SLC39A5 solute carrier family 39 member 5 gene DOID:9008442 Myopia 24, Autosomal Dominant ISO RGD:1321159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia 24, autosomal dominant PMID:24891338|PMID:25741868 12183276 UGCG UDP-glucose ceramide glucosyltransferase gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1349188 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital nonbullous ichthyosiform erythroderma PMID:29417556 12183276 UGCG UDP-glucose ceramide glucosyltransferase gene DOID:0080600 COVID-19 ISO RGD:1349188 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33639165 12183276 UGCG UDP-glucose ceramide glucosyltransferase gene DOID:630 genetic disease ISO RGD:1349188 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12183276 UGCG UDP-glucose ceramide glucosyltransferase gene DOID:9001488 Human Influenza ISO RGD:1349188 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33639165 12183276 UGCG UDP-glucose ceramide glucosyltransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12183276 UGCG UDP-glucose ceramide glucosyltransferase gene DOID:9007102 Myocardial Ischemia ISO RGD:1349188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12183289 MROH1 maestro heat like repeat family member 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:2302193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12183289 MROH1 maestro heat like repeat family member 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:2302193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12183289 MROH1 maestro heat like repeat family member 1 gene DOID:4621 holoprosencephaly ISO RGD:2302193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12183289 MROH1 maestro heat like repeat family member 1 gene DOID:630 genetic disease ISO RGD:2302193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12183331 NRF1 nuclear respiratory factor 1 gene DOID:12858 Huntington's disease ISO RGD:1312138 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum PMID:20529956|REF_RGD_ID:6771173 12183331 NRF1 nuclear respiratory factor 1 gene DOID:12858 Huntington's disease onset ISO RGD:1312137 D RGD:9068941 20200609 RGD DNA:SNPs: :rs6949152, rs7781972 (human) PMID:21595933|REF_RGD_ID:6770890 12183331 NRF1 nuclear respiratory factor 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1312137 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:22975021 12183331 NRF1 nuclear respiratory factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12183331 NRF1 nuclear respiratory factor 1 gene DOID:630 genetic disease ISO RGD:1312137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12183331 NRF1 nuclear respiratory factor 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1304603 D RGD:9068941 20230406 RGD mRNA, protein:increase expression:cerebral cortex PMID:18723421|REF_RGD_ID:2302400 12183331 NRF1 nuclear respiratory factor 1 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1304603 D RGD:9068941 20200609 RGD mRNA:increased expression:hear right ventricle PMID:17704287|REF_RGD_ID:2302404 12183331 NRF1 nuclear respiratory factor 1 gene DOID:9007170 Bowen's Disease ISO RGD:1312137 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21514422 12183375 IL36B interleukin 36 beta gene DOID:289 endometriosis ISO RGD:1317278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometriosis 12183375 IL36B interleukin 36 beta gene DOID:630 genetic disease ISO RGD:1317278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12183375 IL36B interleukin 36 beta gene DOID:9002189 High Myopia ISO RGD:1317278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12183384 MARK2 microtubule affinity regulating kinase 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1344457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12183384 MARK2 microtubule affinity regulating kinase 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1344457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12183384 MARK2 microtubule affinity regulating kinase 2 gene DOID:1059 intellectual disability ISO RGD:1344457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12183384 MARK2 microtubule affinity regulating kinase 2 gene DOID:12849 autistic disorder ISO RGD:1344457 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:35982159 12183384 MARK2 microtubule affinity regulating kinase 2 gene DOID:3070 high grade glioma ISO RGD:1344457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12183384 MARK2 microtubule affinity regulating kinase 2 gene DOID:630 genetic disease ISO RGD:1344457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12183384 MARK2 microtubule affinity regulating kinase 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1344457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12183384 MARK2 microtubule affinity regulating kinase 2 gene DOID:9008582 Developmental Disease ISO RGD:1344457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12183430 ZBTB7A zinc finger and BTB domain containing 7A gene DOID:13938 amenorrhea ISO RGD:1350408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12183430 ZBTB7A zinc finger and BTB domain containing 7A gene DOID:3068 glioblastoma ISO RGD:1350408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25875864 12183430 ZBTB7A zinc finger and BTB domain containing 7A gene DOID:630 genetic disease ISO RGD:1350408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12183430 ZBTB7A zinc finger and BTB domain containing 7A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350408 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23727861 12183430 ZBTB7A zinc finger and BTB domain containing 7A gene DOID:9002875 MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN ISO RGD:1350408 D RGD:7240710 20220504 OMIM 12183430 ZBTB7A zinc finger and BTB domain containing 7A gene DOID:9002875 MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN ISO RGD:1350408 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin PMID:25741868|PMID:31645653|PMID:34515416 12183430 ZBTB7A zinc finger and BTB domain containing 7A gene DOID:9119 acute myeloid leukemia ISO RGD:1350408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27798625 12183438 GRHL3 grainyhead like transcription factor 3 gene DOID:0060239 Van der Woude syndrome ISO RGD:1318023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Van der Woude syndrome 1 PMID:25741868 12183438 GRHL3 grainyhead like transcription factor 3 gene DOID:0080074 neural tube defect ISO RGD:1318023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6635991 12183438 GRHL3 grainyhead like transcription factor 3 gene DOID:0110213 isolated cleft palate ISO RGD:1318023 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated cleft palate PMID:25741868|PMID:27018475|PMID:28492532 12183438 GRHL3 grainyhead like transcription factor 3 gene DOID:630 genetic disease ISO RGD:1318023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24360809|PMID:28276201|PMID:28492532|PMID:28886269 12183438 GRHL3 grainyhead like transcription factor 3 gene DOID:9001916 Fetal Death ISO RGD:1318023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6635991 12183438 GRHL3 grainyhead like transcription factor 3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1318023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12183438 GRHL3 grainyhead like transcription factor 3 gene DOID:9008934 Van der Woude Syndrome 2 ISO RGD:1318023 D RGD:7240710 20180130 OMIM 12183438 GRHL3 grainyhead like transcription factor 3 gene DOID:9008934 Van der Woude Syndrome 2 ISO RGD:1318023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Van der Woude syndrome 2 PMID:11781685|PMID:16199547|PMID:20184620|PMID:22590528|PMID:22829784|PMID:24033266|PMID:24360809|PMID:25741868|PMID:28492532 12183464 ADGRG7 adhesion G protein-coupled receptor G7 gene DOID:630 genetic disease ISO RGD:1316279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12183464 ADGRG7 adhesion G protein-coupled receptor G7 gene DOID:684 hepatocellular carcinoma ISO RGD:1316279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12183484 FAM81B family with sequence similarity 81 member B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603176 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12183484 FAM81B family with sequence similarity 81 member B gene DOID:630 genetic disease ISO RGD:1603176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12183484 FAM81B family with sequence similarity 81 member B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12183484 FAM81B family with sequence similarity 81 member B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603176 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12183497 CDC42BPB CDC42 binding protein kinase beta gene DOID:0060041 autism spectrum disorder ISO RGD:1351337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:32031333 12183497 CDC42BPB CDC42 binding protein kinase beta gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1351337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12183497 CDC42BPB CDC42 binding protein kinase beta gene DOID:630 genetic disease ISO RGD:1351337 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12183497 CDC42BPB CDC42 binding protein kinase beta gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1351337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 12183497 CDC42BPB CDC42 binding protein kinase beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDC42BPB-related neurodevelopmental syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32031333 12183497 CDC42BPB CDC42 binding protein kinase beta gene DOID:9007606 CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME ISO RGD:1351337 D RGD:7240710 20220615 OMIM 12183497 CDC42BPB CDC42 binding protein kinase beta gene DOID:9007606 CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME ISO RGD:1351337 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Chilton-Okur-Chung neurodevelopmental syndrome PMID:25741868|PMID:32031333 12183555 HHEX hematopoietically expressed homeobox gene DOID:0050770 polycystic liver disease ISO RGD:1350411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 12183555 HHEX hematopoietically expressed homeobox gene DOID:630 genetic disease ISO RGD:1350411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12183555 HHEX hematopoietically expressed homeobox gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1350411 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 12183555 HHEX hematopoietically expressed homeobox gene DOID:9008939 Breast Neoplasms ISO RGD:1350411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16854221 12183555 HHEX hematopoietically expressed homeobox gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104008 12183555 HHEX hematopoietically expressed homeobox gene DOID:9452 fatty liver disease ISO RGD:1350411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24469900 12183563 DIXDC1 DIX domain containing 1 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1320498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 12183563 DIXDC1 DIX domain containing 1 gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:1320498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:25966638|PMID:28492532 12183563 DIXDC1 DIX domain containing 1 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1320498 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 12183563 DIXDC1 DIX domain containing 1 gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:1320498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 12183563 DIXDC1 DIX domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1320498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12183563 DIXDC1 DIX domain containing 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1320498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12183563 DIXDC1 DIX domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1320498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27752079 12183563 DIXDC1 DIX domain containing 1 gene DOID:1596 depressive disorder ISO RGD:1320498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27752079 12183563 DIXDC1 DIX domain containing 1 gene DOID:2030 anxiety disorder ISO RGD:1320498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27752079 12183563 DIXDC1 DIX domain containing 1 gene DOID:3312 bipolar disorder ISO RGD:1320498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27752079 12183563 DIXDC1 DIX domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1320498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27752079 12183563 DIXDC1 DIX domain containing 1 gene DOID:630 genetic disease ISO RGD:1320498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12183563 DIXDC1 DIX domain containing 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12183563 DIXDC1 DIX domain containing 1 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1320498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 12183563 DIXDC1 DIX domain containing 1 gene DOID:9970 obesity ISO RGD:1320498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity 12183614 GEMIN4 gem nuclear organelle associated protein 4 gene DOID:0081263 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities ISO RGD:1344278 D RGD:7240710 20190918 OMIM 12183614 GEMIN4 gem nuclear organelle associated protein 4 gene DOID:0081263 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities ISO RGD:1344278 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities PMID:25558065|PMID:25741868|PMID:27878435|PMID:30237576 12183614 GEMIN4 gem nuclear organelle associated protein 4 gene DOID:10907 microcephaly ISO RGD:1344278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25558065|PMID:25741868|PMID:27878435 12183614 GEMIN4 gem nuclear organelle associated protein 4 gene DOID:630 genetic disease ISO RGD:1344278 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12183614 GEMIN4 gem nuclear organelle associated protein 4 gene DOID:83 cataract ISO RGD:1344278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25558065|PMID:25741868|PMID:27878435 12183614 GEMIN4 gem nuclear organelle associated protein 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1344278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:25741868|PMID:27878435 12183640 ANKRD33 ankyrin repeat domain 33 gene DOID:630 genetic disease ISO RGD:1344617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12183648 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1349400 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome PMID:25741868 12183648 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:1059 intellectual disability ISO RGD:1349400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12183648 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:13501 Moebius syndrome ISO RGD:1349400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 12183648 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:5419 schizophrenia ISO RGD:1349400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12183648 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1349400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23545411|PMID:25741868|PMID:27334371|PMID:27389779|PMID:28492532|PMID:29807643 12183648 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:9000211 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE ISO RGD:1349400 D RGD:7240710 20190315 OMIM 12183648 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:9000211 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE ISO RGD:1349400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language PMID:23545411|PMID:25741868|PMID:27389779|PMID:28492532|PMID:29807643 12183648 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12183648 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:9006140 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies ISO RGD:1349400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies PMID:23545411|PMID:25741868|PMID:27389779 12183648 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1349400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12183648 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:9008582 Developmental Disease ISO RGD:1349400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12183687 TAS2R9 taste 2 receptor member 9 gene DOID:630 genetic disease ISO RGD:1342904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12183692 NMUR1 neuromedin U receptor 1 gene DOID:0060476 Perlman syndrome ISO RGD:1348049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12183692 NMUR1 neuromedin U receptor 1 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1348049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12183692 NMUR1 neuromedin U receptor 1 gene DOID:630 genetic disease ISO RGD:1348049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12183698 TCEAL8 transcription elongation factor A like 8 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12183698 TCEAL8 transcription elongation factor A like 8 gene DOID:12849 autistic disorder ISO RGD:1352350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12183698 TCEAL8 transcription elongation factor A like 8 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1352350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:31690835 12183698 TCEAL8 transcription elongation factor A like 8 gene DOID:630 genetic disease ISO RGD:1352350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12183709 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:0050572 cone-rod dystrophy ISO RGD:1353704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:15060128|PMID:19370764|PMID:20301784|PMID:25741868|PMID:28492532 12183709 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1353704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12183709 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:0080488 mucolipidosis ISO RGD:1353704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucolipidosis PMID:24033266|PMID:25741868 12183709 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:0080678 mucolipidosis III gamma ISO RGD:1353704 D RGD:7240710 20190315 OMIM 12183709 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:0080678 mucolipidosis III gamma ISO RGD:1353704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, VARIANT FORM | ClinVar Annotator: match by term: Mucolipidosis type III gamma PMID:10712439|PMID:15060128|PMID:15532026|PMID:16199547|PMID:17576681|PMID:19370764|PMID:19659762|PMID:20034096|PMID:20147709|PMID:20301784|PMID:20951619|PMID:21792934|PMID:23430803|PMID:24033266|PMID:24123366|PMID:24316125|PMID:24767253|PMID:24807205|PMID:25182519|PMID:25741868|PMID:26130485|PMID:26935170|PMID:27038293|PMID:27243974|PMID:27896079|PMID:28492532|PMID:28950892|PMID:29170090|PMID:29704188|PMID:30235039|PMID:30507725|PMID:30882951|PMID:32651481|PMID:9536098 12183709 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1353704 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12183709 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:1826 epilepsy ISO RGD:1353704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12183709 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1353704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12183709 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:3343 glycoproteinosis ISO RGD:1353704 D RGD:9068941 20200609 RGD mucolipidosis IIIC/variant pseudo-hurler polydystrophy PMID:10712439|REF_RGD_ID:1599045 12183709 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:630 genetic disease ISO RGD:1353704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12183722 MIR301B microRNA mir-301b gene DOID:9000217 Stomach Neoplasms ISO RGD:2290237 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35246762 12183722 MIR301B microRNA mir-301b gene DOID:9005632 Cocaine-Related Disorders ISO RGD:2290237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 12183722 MIR301B microRNA mir-301b gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2290237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:0050572 cone-rod dystrophy ISO RGD:732416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:0080150 adrenocorticotropic hormone deficiency ISO RGD:732416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ACTH deficiency PMID:18632300|PMID:25741868|PMID:28492532|PMID:30576320|PMID:31273949|PMID:31630094|PMID:9326941|PMID:9501220|PMID:9843205 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:0110016 Leber congenital amaurosis 2 IAGP D RGD:12801476 20230503 OMIA Leber congenital amaurosis PMID:2804031|PMID:8745249|PMID:9176051|PMID:9088745|PMID:9427553|PMID:10191083|PMID:11316301|PMID:11334084|PMID:12498409|PMID:12657607|PMID:12906125|PMID:16799026|PMID:16502306|PMID:16226919|PMID:12692160|PMID:15180294|PMID:18188938|PMID:17594175|PMID:19458334|PMID:11326284|PMID:16644289|PMID:18209734|PMID:19373675|PMID:20837787|PMID:20671290|PMID:20354505|PMID:9808841|PMID:22065099|PMID:7851218|PMID:23341635|PMID:23789127|PMID:23553840|PMID:24466015|PMID:26368928|PMID:28662231|PMID:31604676|PMID:32189222|PMID:35588783|PMID:36198052|PMID:36103843|PMID:30050836 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:0110016 Leber congenital amaurosis 2 ISO RGD:732416 D RGD:7240710 20180130 OMIM 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:0110016 Leber congenital amaurosis 2 ISO RGD:732416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER II | ClinVar Annotator: match by term: Leber congenital amaurosis 2 PMID:10090910|PMID:10766140|PMID:10937591|PMID:11035546|PMID:11095629|PMID:11264131|PMID:11295838|PMID:11462243|PMID:11786058|PMID:12960219|PMID:13616783|PMID:14962443|PMID:14971589|PMID:15024725|PMID:15512997|PMID:15557452|PMID:15837919|PMID:16096063|PMID:16123401|PMID:16123440|PMID:16150724|PMID:16199547|PMID:16205573|PMID:16754667|PMID:16828753|PMID:17197551|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055820|PMID:18441371|PMID:18484312|PMID:18539930|PMID:18599565|PMID:18632300|PMID:18682808|PMID:18722466|PMID:19117922|PMID:19431183|PMID:19753312|PMID:19854499|PMID:19920137|PMID:19959640|PMID:20043869|PMID:20079931|PMID:20604683|PMID:20683928|PMID:20801516|PMID:20811047|PMID:21151602|PMID:21153841|PMID:21211845|PMID:21602930|PMID:21654732|PMID:21911650|PMID:22164218|PMID:22334370|PMID:22509104|PMID:23591405|PMID:23661368|PMID:23661369|PMID:23878505|PMID:24066033|PMID:24265693|PMID:24849605|PMID:24997176|PMID:25097241|PMID:25257057|PMID:25356976|PMID:25383945|PMID:25495949|PMID:25525159|PMID:25741868|PMID:25752820|PMID:25972377|PMID:26024124|PMID:26047050|PMID:26147992|PMID:26306921|PMID:26355662|PMID:26364624|PMID:26427455|PMID:26605849|PMID:26626312|PMID:26656277|PMID:26667666|PMID:26906952|PMID:27102010|PMID:27208204|PMID:27307694|PMID:27535533|PMID:27874104|PMID:28041643|PMID:28041994|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28393863|PMID:28492532|PMID:28559085|PMID:28714225|PMID:28838317|PMID:28945494|PMID:29033008|PMID:29068479|PMID:29178642|PMID:29186038|PMID:29332120|PMID:29641573|PMID:29659842|PMID:29681726|PMID:29785639|PMID:29947567|PMID:30025081|PMID:30268864|PMID:30576320|PMID:30628748|PMID:30653986|PMID:30718709|PMID:30870047|PMID:30924848|PMID:30996589|PMID:31054281|PMID:31174678|PMID:31273949|PMID:31379919|PMID:31456290|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31878136|PMID:31957135|PMID:31960602|PMID:32037395|PMID:32165824|PMID:32347917|PMID:32367544|PMID:32581362|PMID:32865313|PMID:33090715|PMID:33308271|PMID:33472769|PMID:33494148|PMID:33576794|PMID:33952291|PMID:34492281|PMID:35129589|PMID:4492281|PMID:9326927|PMID:9326941|PMID:9501220|PMID:9536098|PMID:9801879|PMID:9843205 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:0110016 Leber congenital amaurosis 2 treatment ISO RGD:732416 D RGD:9068941 20200609 RGD human gene in mouse model PMID:16505056|REF_RGD_ID:9495919 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:0110353 retinitis pigmentosa 20 ISO RGD:732416 D RGD:7240710 20180130 OMIM 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:0110353 retinitis pigmentosa 20 ISO RGD:732416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 20 PMID:10766140|PMID:10937591|PMID:11035546|PMID:11095629|PMID:11462243|PMID:11786058|PMID:12960219|PMID:13616783|PMID:15024725|PMID:15512997|PMID:15557452|PMID:16150724|PMID:16199547|PMID:16205573|PMID:16754667|PMID:16828753|PMID:17576681|PMID:17724218|PMID:18055820|PMID:18441371|PMID:18539930|PMID:18632300|PMID:18682808|PMID:18722466|PMID:19117922|PMID:19431183|PMID:19753312|PMID:19854499|PMID:20079931|PMID:20683928|PMID:21153841|PMID:21211845|PMID:21654732|PMID:24066033|PMID:24265693|PMID:24849605|PMID:25257057|PMID:25741868|PMID:25752820|PMID:26355662|PMID:26605849|PMID:26626312|PMID:26906952|PMID:27307694|PMID:27535533|PMID:27874104|PMID:28041643|PMID:28041994|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29186038|PMID:29332120|PMID:29659842|PMID:29681726|PMID:29947567|PMID:30268864|PMID:30576320|PMID:30628748|PMID:30718709|PMID:31273949|PMID:31379919|PMID:31630094|PMID:31878136|PMID:31957135|PMID:32037395|PMID:32367544|PMID:35129589|PMID:4492281|PMID:9326927|PMID:9326941|PMID:9501220|PMID:9536098|PMID:9843205 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:0111004 Joubert syndrome 9 ISO RGD:732416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9 PMID:10766140|PMID:16123440|PMID:19431183|PMID:24265693|PMID:25741868|PMID:28492532 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:0111021 cone-rod dystrophy 15 ISO RGD:732416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 15 PMID:25741868|PMID:28492532 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:0112144 retinitis pigmentosa 87 ISO RGD:732416 D RGD:7240710 20200101 OMIM 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:0112144 retinitis pigmentosa 87 ISO RGD:732416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 87 with choroidal involvement PMID:21654732|PMID:25741868|PMID:27307694|PMID:28041994|PMID:28492532|PMID:29659842|PMID:29947567|PMID:30628748|PMID:31379919 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:10584 retinitis pigmentosa ISO RGD:732416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10090910|PMID:10766140|PMID:10937591|PMID:11095629|PMID:11462243|PMID:11786058|PMID:12960219|PMID:13616783|PMID:14971589|PMID:15024725|PMID:15557452|PMID:16123440|PMID:16150724|PMID:16754667|PMID:17197551|PMID:17964524|PMID:18539930|PMID:18599565|PMID:18632300|PMID:18682808|PMID:18722466|PMID:19117922|PMID:19431183|PMID:19753312|PMID:19920137|PMID:20079931|PMID:20683928|PMID:20811047|PMID:21153841|PMID:21602930|PMID:23105016|PMID:23591405|PMID:24265693|PMID:24849605|PMID:25257057|PMID:25356976|PMID:25525159|PMID:25741868|PMID:25752820|PMID:25972377|PMID:26047050|PMID:26306921|PMID:26355662|PMID:26626312|PMID:26656277|PMID:26906952|PMID:27102010|PMID:27874104|PMID:28041643|PMID:28492532|PMID:29332120|PMID:29681726|PMID:29785639|PMID:30268864|PMID:30576320|PMID:30718709|PMID:30870047|PMID:31273949|PMID:31630094|PMID:31725702|PMID:32581362|PMID:33576794|PMID:9326941|PMID:9501220|PMID:9843205 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:10584 retinitis pigmentosa treatment ISO RGD:732417 D RGD:9068941 20200609 RGD PMID:20164818|REF_RGD_ID:9585645 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:1059 intellectual disability ISO RGD:732416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:12849 autistic disorder ISO RGD:732416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:32581362 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:1432 blindness ISO RGD:732416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16150724|PMID:16226919 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:14791 Leber congenital amaurosis ISO RGD:732416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:10090910|PMID:10766140|PMID:10937591|PMID:11035546|PMID:11095629|PMID:11264131|PMID:11462243|PMID:11786058|PMID:12960219|PMID:13616783|PMID:15024725|PMID:15512997|PMID:15557452|PMID:16123401|PMID:16123440|PMID:16150724|PMID:16199547|PMID:16205573|PMID:16754667|PMID:16828753|PMID:17197551|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055820|PMID:18441371|PMID:18539930|PMID:18599565|PMID:18632300|PMID:18682808|PMID:19117922|PMID:19431183|PMID:19753312|PMID:19854499|PMID:19920137|PMID:19959640|PMID:20079931|PMID:20604683|PMID:20683928|PMID:20801516|PMID:20811047|PMID:21151602|PMID:21153841|PMID:21211845|PMID:21602930|PMID:21911650|PMID:22334370|PMID:23591405|PMID:23661369|PMID:24066033|PMID:24265693|PMID:24849605|PMID:24997176|PMID:25097241|PMID:25257057|PMID:25356976|PMID:25495949|PMID:25525159|PMID:25741868|PMID:25752820|PMID:25972377|PMID:26024124|PMID:26047050|PMID:26355662|PMID:26364624|PMID:26427455|PMID:26605849|PMID:26626312|PMID:26656277|PMID:26906952|PMID:27535533|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28492532|PMID:28714225|PMID:29033008|PMID:29332120|PMID:29681726|PMID:29785639|PMID:30025081|PMID:30268864|PMID:30653986|PMID:30718709|PMID:30870047|PMID:30924848|PMID:30996589|PMID:31273949|PMID:31456290|PMID:31736247|PMID:32037395|PMID:32165824|PMID:32347917|PMID:32581362|PMID:32865313|PMID:33308271|PMID:33472769|PMID:33494148|PMID:34492281|PMID:35129589|PMID:9326927|PMID:9326941|PMID:9501220|PMID:9536098|PMID:9801879|PMID:9843205 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:1749 squamous cell carcinoma ISO RGD:732416 D RGD:9068941 20200609 RGD mRNA:decreased expression:skin (human) PMID:16181461|REF_RGD_ID:9495923 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:2513 basal cell carcinoma ISO RGD:732416 D RGD:9068941 20200609 RGD mRNA:increased expression:skin (human) PMID:16181461|REF_RGD_ID:9495923 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:630 genetic disease ISO RGD:732416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:732416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16828753|PMID:17011878 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:8466 retinal degeneration ISO RGD:732416 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:16199547|PMID:18632300|PMID:25741868|PMID:28492532|PMID:32367544|PMID:9326941|PMID:9501220|PMID:9843205 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:8501 fundus dystrophy ISO RGD:732416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10766140|PMID:10937591|PMID:11095629|PMID:11462243|PMID:11786058|PMID:12960219|PMID:15024725|PMID:16150724|PMID:16199547|PMID:16205573|PMID:16754667|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18599565|PMID:18632300|PMID:18682808|PMID:19117922|PMID:19431183|PMID:19854499|PMID:19959640|PMID:20043869|PMID:20604683|PMID:20683928|PMID:21151602|PMID:21153841|PMID:21211845|PMID:21654732|PMID:21911650|PMID:24849605|PMID:24997176|PMID:25257057|PMID:25525159|PMID:25741868|PMID:25752820|PMID:25972377|PMID:26024124|PMID:26427455|PMID:26626312|PMID:26906952|PMID:27307694|PMID:27874104|PMID:28041643|PMID:28041994|PMID:28224992|PMID:28492532|PMID:29332120|PMID:29659842|PMID:29785639|PMID:29947567|PMID:30268864|PMID:30628748|PMID:30718709|PMID:31379919|PMID:31456290|PMID:31630094|PMID:31736247|PMID:32037395|PMID:32165824|PMID:32581362|PMID:33494148|PMID:35129589|PMID:9326941|PMID:9501220|PMID:9536098|PMID:9843205 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:9002525 Hereditary Eye Diseases ISO RGD:732416 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16968212 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732416 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:21654732|PMID:25741868|PMID:27307694|PMID:28041994|PMID:28492532|PMID:29659842|PMID:29947567|PMID:30628748|PMID:31379919 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621396 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina (rat) PMID:21862641|REF_RGD_ID:9585653 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:732416 D RGD:9068941 20200609 RGD human peptides in a rat model PMID:16109648|REF_RGD_ID:9585652 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:9008296 Eye Abnormalities ISO RGD:732416 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:10766140|PMID:10937591|PMID:11095629|PMID:16754667|PMID:18682808|PMID:19117922|PMID:19431183|PMID:21153841|PMID:25741868|PMID:25752820|PMID:26626312|PMID:27874104|PMID:28492532|PMID:30718709|PMID:9501220 12183779 RPE65 retinoid isomerohydrolase RPE65 gene DOID:9649 congenital nystagmus ISO RGD:732416 D RGD:9068941 20210813 CTD CTD Direct Evidence: marker/mechanism PMID:32971638 12183797 MAST3 microtubule associated serine/threonine kinase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316095 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:25741868|PMID:34185323 12183797 MAST3 microtubule associated serine/threonine kinase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316095 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:34185323 12183797 MAST3 microtubule associated serine/threonine kinase 3 gene DOID:630 genetic disease ISO RGD:1316095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12183797 MAST3 microtubule associated serine/threonine kinase 3 gene DOID:9006521 Developmental and Epileptic Encephalopathy 108 ISO RGD:1316095 D RGD:7240710 20221123 OMIM 12183797 MAST3 microtubule associated serine/threonine kinase 3 gene DOID:9006521 Developmental and Epileptic Encephalopathy 108 ISO RGD:1316095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 108 PMID:25741868|PMID:34185323|PMID:35095415 12183797 MAST3 microtubule associated serine/threonine kinase 3 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1316095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12183849 RRP1B ribosomal RNA processing 1B gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1313777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 12183849 RRP1B ribosomal RNA processing 1B gene DOID:0110266 cataract 9 multiple types ISO RGD:1313777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12183849 RRP1B ribosomal RNA processing 1B gene DOID:12849 autistic disorder ISO RGD:1313777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12183849 RRP1B ribosomal RNA processing 1B gene DOID:630 genetic disease ISO RGD:1313777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12183849 RRP1B ribosomal RNA processing 1B gene DOID:891 progressive myoclonus epilepsy ISO RGD:1313777 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12183849 RRP1B ribosomal RNA processing 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12183849 RRP1B ribosomal RNA processing 1B gene DOID:9263 homocystinuria ISO RGD:1313777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12183849 RRP1B ribosomal RNA processing 1B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12183875 PAM peptidylglycine alpha-amidating monooxygenase gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735807 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12183875 PAM peptidylglycine alpha-amidating monooxygenase gene DOID:1459 hypothyroidism ISO RGD:3252 D RGD:9068941 20200609 RGD mRNA:increased stability:pituitary gland PMID:8940376|REF_RGD_ID:2302427 12183875 PAM peptidylglycine alpha-amidating monooxygenase gene DOID:2030 anxiety disorder ISO RGD:735807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19815072 12183875 PAM peptidylglycine alpha-amidating monooxygenase gene DOID:2526 prostate adenocarcinoma ISO RGD:735807 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland (human) PMID:11221851|REF_RGD_ID:6483769 12183875 PAM peptidylglycine alpha-amidating monooxygenase gene DOID:630 genetic disease ISO RGD:735807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12183875 PAM peptidylglycine alpha-amidating monooxygenase gene DOID:9002221 Hyperplasia ISO RGD:3252 D RGD:9068941 20200609 RGD protein:increased expression:lung, alveolus (rat) PMID:11742033|REF_RGD_ID:6483575 12183875 PAM peptidylglycine alpha-amidating monooxygenase gene DOID:9002457 Experimental Arthritis ISO RGD:3252 D RGD:9068941 20200609 RGD PMID:17138865|REF_RGD_ID:6483527 12183875 PAM peptidylglycine alpha-amidating monooxygenase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12183875 PAM peptidylglycine alpha-amidating monooxygenase gene DOID:9004756 Brain Hypoxia ISO RGD:3252 D RGD:9068941 20200609 RGD protein:increased activity:brain stem (rat) PMID:18818385|REF_RGD_ID:6483514 12183875 PAM peptidylglycine alpha-amidating monooxygenase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12183875 PAM peptidylglycine alpha-amidating monooxygenase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735807 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12183875 PAM peptidylglycine alpha-amidating monooxygenase gene DOID:9352 type 2 diabetes mellitus ISO RGD:735807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24464100|PMID:30054598 12183912 NPLOC4 NPL4 homolog, ubiquitin recognition factor gene DOID:630 genetic disease ISO RGD:735438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12183933 FRMD3 FERM domain containing 3 gene DOID:630 genetic disease ISO RGD:1312459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12183933 FRMD3 FERM domain containing 3 gene DOID:9001341 Chloracne ISO RGD:1312459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12183957 SLITRK5 SLIT and NTRK like family member 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1322151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12183957 SLITRK5 SLIT and NTRK like family member 5 gene DOID:10933 obsessive-compulsive disorder ISO RGD:1322151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20418887 12183957 SLITRK5 SLIT and NTRK like family member 5 gene DOID:5419 schizophrenia ISO RGD:1322151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12183957 SLITRK5 SLIT and NTRK like family member 5 gene DOID:630 genetic disease ISO RGD:1322151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12183969 DHRS3 dehydrogenase/reductase 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1313699 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12183969 DHRS3 dehydrogenase/reductase 3 gene DOID:630 genetic disease ISO RGD:1313699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12183969 DHRS3 dehydrogenase/reductase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12183979 LOC607515 olfactory receptor 6K3 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1352543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12183979 LOC607515 olfactory receptor 6K3 gene DOID:1540 parathyroid carcinoma ISO RGD:1352543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12183979 LOC607515 olfactory receptor 6K3 gene DOID:630 genetic disease ISO RGD:1352543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12183979 LOC607515 olfactory receptor 6K3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12183987 BLM BLM RecQ like helicase gene DOID:0050771 pheochromocytoma ISO RGD:1318795 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:25741868|PMID:28492532 12183987 BLM BLM RecQ like helicase gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1318795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12183987 BLM BLM RecQ like helicase gene DOID:10907 microcephaly ISO RGD:1318795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32566746 12183987 BLM BLM RecQ like helicase gene DOID:2394 ovarian cancer ISO RGD:1318795 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:23129629|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29338689|PMID:29641532|PMID:30840646|PMID:31360874|PMID:31562900|PMID:32566746 12183987 BLM BLM RecQ like helicase gene DOID:2717 Bloom syndrome ISO RGD:1318795 D RGD:7240710 20180130 OMIM 12183987 BLM BLM RecQ like helicase gene DOID:2717 Bloom syndrome ISO RGD:1318795 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:10069810|PMID:10090915|PMID:10569803|PMID:10734115|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12242432|PMID:12444098|PMID:15579905|PMID:15609317|PMID:15930159|PMID:15990871|PMID:16199547|PMID:16876111|PMID:17407155|PMID:17576681|PMID:17878217|PMID:18414213|PMID:18471088|PMID:19763152|PMID:19917125|PMID:20301572|PMID:20307669|PMID:20639533|PMID:20980836|PMID:21113733|PMID:21815139|PMID:22406018|PMID:22582397|PMID:22657828|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23161009|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:23960188|PMID:24033266|PMID:24096176|PMID:24118499|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25640679|PMID:25653542|PMID:25741868|PMID:25741877|PMID:25794620|PMID:25850943|PMID:25901030|PMID:26028025|PMID:26247052|PMID:26296701|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:2678854|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27516001|PMID:27657136|PMID:27854218|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28195393|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28832562|PMID:28873162|PMID:28877996|PMID:28944238|PMID:29098565|PMID:29212164|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30152102|PMID:30214071|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30541756|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30871259|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31212687|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31562900|PMID:31780696|PMID:31816118|PMID:31844177|PMID:31937788|PMID:31942411|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32449991|PMID:32566746|PMID:32595206|PMID:32860008|PMID:32868804|PMID:32923906|PMID:33073370|PMID:33077847|PMID:33193653|PMID:33318203|PMID:33332384|PMID:33436027|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33647232|PMID:33832920|PMID:34177791|PMID:7585968|PMID:9285778|PMID:9388480|PMID:9536098|PMID:9758720|PMID:9837821|PMID:9840919 12183987 BLM BLM RecQ like helicase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:17407155|PMID:23129629|PMID:23292937|PMID:24728327|PMID:24816114|PMID:25653542|PMID:25741868|PMID:26467025|PMID:26503572|PMID:26788541|PMID:28492532|PMID:29338689|PMID:30214240|PMID:30840646|PMID:32566746|PMID:7585968 12183987 BLM BLM RecQ like helicase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318795 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:17407155|PMID:23129629|PMID:23292937|PMID:24728327|PMID:24816114|PMID:25653542|PMID:25741868|PMID:26467025|PMID:26503572|PMID:26788541|PMID:28492532|PMID:28724667|PMID:29338689|PMID:30214240|PMID:30840646|PMID:31118792|PMID:31360874|PMID:32107087|PMID:32566746|PMID:32868804|PMID:7585968 12183987 BLM BLM RecQ like helicase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318795 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:17407155|PMID:23129629|PMID:23292937|PMID:23960188|PMID:24728327|PMID:24816114|PMID:25653542|PMID:25741868|PMID:26467025|PMID:26503572|PMID:26788541|PMID:28492532|PMID:28724667|PMID:28944238|PMID:29338689|PMID:29641532|PMID:30214240|PMID:30840646|PMID:31118792|PMID:31360874|PMID:32107087|PMID:32566746|PMID:32868804|PMID:7585968 12183987 BLM BLM RecQ like helicase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17407155|PMID:17576681|PMID:23129629|PMID:23292937|PMID:23960188|PMID:24728327|PMID:24816114|PMID:25653542|PMID:25741868|PMID:26467025|PMID:26503572|PMID:26788541|PMID:28492532|PMID:28724667|PMID:28944238|PMID:29338689|PMID:29641532|PMID:30214240|PMID:30840646|PMID:31118792|PMID:31360874|PMID:32107087|PMID:32566746|PMID:32868804|PMID:7585968|PMID:9536098 12183987 BLM BLM RecQ like helicase gene DOID:630 genetic disease ISO RGD:1318795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23129629|PMID:24728327|PMID:25741868|PMID:26788541|PMID:28492532 12183987 BLM BLM RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:19917125|PMID:20301572|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26585945|PMID:26681682|PMID:26786923|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28832562|PMID:28873162|PMID:28877996|PMID:29098565|PMID:29338689|PMID:29439820|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30840646|PMID:30995915|PMID:31159747|PMID:31253795|PMID:31780696|PMID:31816118|PMID:31970404|PMID:32566746|PMID:32860008|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919 12183987 BLM BLM RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318795 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:19917125|PMID:20301572|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26585945|PMID:26681682|PMID:26786923|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28832562|PMID:28873162|PMID:28877996|PMID:29098565|PMID:29338689|PMID:29439820|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30840646|PMID:30995915|PMID:31159747|PMID:31253795|PMID:31780696|PMID:31816118|PMID:31970404|PMID:32073752|PMID:32566746|PMID:32860008|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919 12183987 BLM BLM RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318795 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:19917125|PMID:20301572|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28832562|PMID:28873162|PMID:28944238|PMID:29098565|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30152102|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31780696|PMID:31816118|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32566746|PMID:32860008|PMID:32868804|PMID:33318203|PMID:33436027|PMID:33832920|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919 12183987 BLM BLM RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318795 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:19917125|PMID:20301572|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28832562|PMID:28873162|PMID:28944238|PMID:29098565|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30152102|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31780696|PMID:31816118|PMID:31937788|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32566746|PMID:32860008|PMID:32868804|PMID:33318203|PMID:33436027|PMID:33606809|PMID:33832920|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919 12183987 BLM BLM RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318795 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:15930159|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:18471088|PMID:19917125|PMID:20301572|PMID:20980836|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23161009|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:23960188|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:25850943|PMID:25901030|PMID:26028025|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:2678854|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27516001|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28195393|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28832562|PMID:28873162|PMID:28944238|PMID:29098565|PMID:29212164|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30152102|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30871259|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31562900|PMID:31780696|PMID:31816118|PMID:31937788|PMID:31942411|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32449991|PMID:32566746|PMID:32595206|PMID:32860008|PMID:32868804|PMID:32923906|PMID:33077847|PMID:33318203|PMID:33436027|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33647232|PMID:33832920|PMID:34177791|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919 12183987 BLM BLM RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318795 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:15930159|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:18471088|PMID:19917125|PMID:20301572|PMID:20980836|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23161009|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:23960188|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:25794620|PMID:25850943|PMID:25901030|PMID:26028025|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:2678854|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27516001|PMID:27657136|PMID:27854218|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28195393|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28832562|PMID:28873162|PMID:28877996|PMID:28944238|PMID:29098565|PMID:29212164|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30152102|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30541756|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30871259|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31562900|PMID:31780696|PMID:31816118|PMID:31911633|PMID:31937788|PMID:31942411|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32449991|PMID:32566746|PMID:32595206|PMID:32860008|PMID:32868804|PMID:32923906|PMID:33077847|PMID:33318203|PMID:33332384|PMID:33436027|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33647232|PMID:33832920|PMID:34177791|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919 12183987 BLM BLM RecQ like helicase gene DOID:9256 colorectal cancer ISO RGD:1318795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:0050700 cardiomyopathy ISO RGD:1317784 D RGD:9068941 20230330 CTD CTD Direct Evidence: marker/mechanism PMID:16580879 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:0060041 autism spectrum disorder ISO RGD:1317784 D RGD:9068941 20230330 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:0060500 drug allergy ISO RGD:1317784 D RGD:9068941 20230330 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:0080665 warfarin resistance ISO RGD:1317784 D RGD:7240710 20230505 OMIM 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:0080665 warfarin resistance ISO RGD:1317784 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Coumarin resistance PMID:10073515|PMID:10208645|PMID:11588061|PMID:12698304|PMID:15608560|PMID:15714076|PMID:15805193|PMID:16198655|PMID:16611750|PMID:17112811|PMID:17681167|PMID:19422321|PMID:20555338|PMID:25099164|PMID:25712887|PMID:25775139|PMID:28740425|PMID:30742399|PMID:30742400|PMID:30742401|PMID:32779747|PMID:8873220|PMID:9352571 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:0080666 warfarin sensitivity ISO RGD:1317784 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Warfarin sensitivity PMID:10073515|PMID:10208645|PMID:11588061|PMID:12698304|PMID:15608560|PMID:15714076|PMID:15805193|PMID:16198655|PMID:16611750|PMID:17112811|PMID:17681167|PMID:19422321|PMID:20555338|PMID:25099164|PMID:25712887|PMID:25775139|PMID:28740425|PMID:30742399|PMID:30742400|PMID:30742401|PMID:32779747|PMID:8873220|PMID:9352571 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:1063 interstitial nephritis ISO RGD:1317784 D RGD:9068941 20230330 CTD CTD Direct Evidence: marker/mechanism PMID:19814645 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:10763 hypertension ISO RGD:1317784 D RGD:9068941 20230330 RGD PMID:19669737|REF_RGD_ID:6903909 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:10763 hypertension ISO RGD:1317784 D RGD:9068941 20230330 RGD associated with Diabetes Mellitus, Insulin-Dependent; DNA:polymorphism:cds:I359L (human) PMID:17305793|REF_RGD_ID:2307150 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:10763 hypertension ISO RGD:2469 D RGD:9068941 20230504 RGD PMID:18829737|REF_RGD_ID:6903915 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:11054 urinary bladder cancer ISO RGD:1317784 D RGD:9068941 20230330 RGD PMID:16985032|REF_RGD_ID:6903918 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:1596 depressive disorder ISO RGD:2469 D RGD:9068941 20230504 RGD PMID:20595028|REF_RGD_ID:4892242 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:3021 acute kidney failure ISO RGD:1317784 D RGD:9068941 20230330 CTD CTD Direct Evidence: marker/mechanism PMID:19814645 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1317784 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:4195 hyperglycemia ISO RGD:1317784 D RGD:9068941 20230330 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; Diabetic Nephropathies; DNA:polymorphisms:polymorphisms:cds:R144C, I359L (human) PMID:17597710|REF_RGD_ID:2307149 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:630 genetic disease ISO RGD:1317784 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:783 end stage renal disease ISO RGD:2469 D RGD:9068941 20230504 RGD PMID:11158222|PMID:8531418|REF_RGD_ID:6903939|REF_RGD_ID:6903940 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:863 nervous system disease ISO RGD:1317784 D RGD:9068941 20230330 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:9000185 Coumarin Sensitivity ISO RGD:1317784 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: COUMARIN SENSITIVITY PMID:10073515|PMID:10208645|PMID:11588061|PMID:12698304|PMID:15608560|PMID:15714076|PMID:15805193|PMID:16198655|PMID:16611750|PMID:17112811|PMID:17681167|PMID:19422321|PMID:20555338|PMID:25099164|PMID:25712887|PMID:25775139|PMID:28740425|PMID:30742399|PMID:30742400|PMID:30742401|PMID:32779747|PMID:8873220|PMID:9352571 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2469 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:9002661 Diabetes Complications ISO RGD:1317784 D RGD:9068941 20230330 RGD PMID:15963101|REF_RGD_ID:2307154 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:9003936 Cardiomegaly ISO RGD:2469 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:18725507 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:9004306 Peptic Ulcer Hemorrhage ISO RGD:1317784 D RGD:9068941 20230330 CTD CTD Direct Evidence: marker/mechanism PMID:17681167 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1317784 D RGD:9068941 20230330 CTD CTD Direct Evidence: marker/mechanism PMID:11740344|PMID:19925388|PMID:23104259 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1317784 D RGD:9068941 20230330 CTD CTD Direct Evidence: marker/mechanism PMID:14971821|PMID:21741958|PMID:28762043|PMID:33814510 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2469 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:9007502 Brain Neoplasms ISO RGD:1317784 D RGD:9068941 20230330 CTD CTD Direct Evidence: marker/mechanism PMID:16475710 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:9008217 Hemorrhage ISO RGD:1317784 D RGD:9068941 20230330 CTD CTD Direct Evidence: marker/mechanism PMID:18429757|PMID:18756910|PMID:20597268|PMID:25521356|PMID:27581200 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:9008550 Vitamin A Deficiency treatment ISO RGD:2469 D RGD:9068941 20230504 RGD PMID:11724755|REF_RGD_ID:13782260 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:9351 diabetes mellitus ISO RGD:1317784 D RGD:9068941 20230330 RGD DNA:polymorphism:multiple (human) PMID:16788382|REF_RGD_ID:2307151 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:9351 diabetes mellitus ISO RGD:1317784 D RGD:9068941 20230330 RGD associated with Thromboembolism; DNA:polymorphism:cds:R144C, I359L (human) PMID:16303885|REF_RGD_ID:2307153 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317784 D RGD:9068941 20230330 RGD DNA:polymorphism:cds:I359L (human) PMID:16325295|REF_RGD_ID:2307152 12184043 CYP2C41 cytochrome P450 2C41 gene DOID:9993 hypoglycemia ISO RGD:1317784 D RGD:9068941 20230330 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphisms:cds:R144C, I359L (human) PMID:15963101|REF_RGD_ID:2307154 12184044 CCL3 chemokine (C-C motif) ligand 3 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1605181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:24088041|PMID:26633545 12184044 CCL3 chemokine (C-C motif) ligand 3 gene DOID:12849 autistic disorder ISO RGD:1605181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12184044 CCL3 chemokine (C-C motif) ligand 3 gene DOID:37 skin disease ISO RGD:1605181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12184044 CCL3 chemokine (C-C motif) ligand 3 gene DOID:630 genetic disease ISO RGD:1605181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184044 CCL3 chemokine (C-C motif) ligand 3 gene DOID:9007964 Arsenic Poisoning ISO RGD:1605181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12184049 LOC474655 zinc finger protein 474 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606968 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12184049 LOC474655 zinc finger protein 474 gene DOID:630 genetic disease ISO RGD:1606968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184049 LOC474655 zinc finger protein 474 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12184049 LOC474655 zinc finger protein 474 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606968 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12184070 RAB3D RAB3D, member RAS oncogene family gene DOID:0050990 episodic ataxia type 2 ISO RGD:736647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12184070 RAB3D RAB3D, member RAS oncogene family gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:736647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12184070 RAB3D RAB3D, member RAS oncogene family gene DOID:0111254 glutaric acidemia I ISO RGD:736647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12184070 RAB3D RAB3D, member RAS oncogene family gene DOID:3413 alpha-mannosidosis ISO RGD:736647 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12184070 RAB3D RAB3D, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:736647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184081 PPP2R2A protein phosphatase 2 regulatory subunit Balpha gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733714 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12184081 PPP2R2A protein phosphatase 2 regulatory subunit Balpha gene DOID:630 genetic disease ISO RGD:733714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184081 PPP2R2A protein phosphatase 2 regulatory subunit Balpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:733714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 12184081 PPP2R2A protein phosphatase 2 regulatory subunit Balpha gene DOID:9002884 Emphysema ISO RGD:733714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22223484 12184081 PPP2R2A protein phosphatase 2 regulatory subunit Balpha gene DOID:9003882 Chromosomal Instability ISO RGD:733714 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25772433 12184081 PPP2R2A protein phosphatase 2 regulatory subunit Balpha gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:733714 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25772433 12184099 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:0070271 Lynch syndrome 1 ISO RGD:1349068 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:24728327|PMID:25741868|PMID:28492532 12184099 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:0080745 polymyositis ISO RGD:1349068 D RGD:9068941 20200609 RGD PMID:15856462|REF_RGD_ID:2324870 12184099 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:0111944 immunodeficiency 31B ISO RGD:1349068 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 12184099 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:10223 dermatomyositis ISO RGD:1349068 D RGD:9068941 20200609 RGD PMID:15856462|REF_RGD_ID:2324870 12184099 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:2394 ovarian cancer ISO RGD:1349068 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868 12184099 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1349068 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic duct PMID:15856462|REF_RGD_ID:2324870 12184099 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1349068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Lynch syndrome PMID:25741868 12184099 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1349068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24728327|PMID:25741868 12184099 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:630 genetic disease ISO RGD:1349068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12184099 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12184099 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:9004271 Colonic Polyps ISO RGD:1349068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon polyps PMID:25637381 12184099 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12184099 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:9256 colorectal cancer ISO RGD:1349068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 12184146 LRRIQ3 leucine rich repeats and IQ motif containing 3 gene DOID:630 genetic disease ISO RGD:1603911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184158 FRK fyn related Src family tyrosine kinase gene DOID:0060163 body dysmorphic disorder ISO RGD:734122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 12184158 FRK fyn related Src family tyrosine kinase gene DOID:10603 glucose intolerance ISO RGD:734122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17179392 12184158 FRK fyn related Src family tyrosine kinase gene DOID:2907 Goldenhar syndrome ISO RGD:734122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Goldenhar syndrome 12184158 FRK fyn related Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:734122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184170 ST3GAL1 ST3 beta-galactoside alpha-2,3-sialyltransferase 1 gene DOID:630 genetic disease ISO RGD:1603709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184170 ST3GAL1 ST3 beta-galactoside alpha-2,3-sialyltransferase 1 gene DOID:9006549 Enterovirus Infections ISO RGD:1603709 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28446605 12184197 EPOR erythropoietin receptor gene DOID:0050990 episodic ataxia type 2 ISO RGD:736105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12184197 EPOR erythropoietin receptor gene DOID:0060652 familial erythrocytosis 1 ISO RGD:736105 D RGD:7240710 20180130 OMIM 12184197 EPOR erythropoietin receptor gene DOID:0060652 familial erythrocytosis 1 ISO RGD:736105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign PMID:10498627|PMID:1653276|PMID:17488692|PMID:1954391|PMID:24115288|PMID:25741868|PMID:26010769|PMID:27993330|PMID:28492532|PMID:4052634|PMID:7795221|PMID:8093406|PMID:8174675|PMID:8506290|PMID:8608241|PMID:9292543|PMID:9394420|PMID:9488636|PMID:9649565 12184197 EPOR erythropoietin receptor gene DOID:0060652 familial erythrocytosis 1 no_association ISO RGD:736105 D RGD:9068941 20200609 RGD PMID:9394420|REF_RGD_ID:11041608 12184197 EPOR erythropoietin receptor gene DOID:0080794 childhood acute megakaryoblastic leukemia ISO RGD:736105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia without down syndrome PMID:17488692|PMID:27993330|PMID:8506290 12184197 EPOR erythropoietin receptor gene DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 ISO RGD:736105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carpenter-Waziri syndrome PMID:25741868|PMID:28492532|PMID:8174675|PMID:9394420 12184197 EPOR erythropoietin receptor gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:736105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12184197 EPOR erythropoietin receptor gene DOID:0111254 glutaric acidemia I ISO RGD:736105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12184197 EPOR erythropoietin receptor gene DOID:10652 Alzheimer's disease ISO RGD:736105 D RGD:9068941 20200609 RGD protein:increased expression:brain, astrocyte PMID:17483696|REF_RGD_ID:10395387 12184197 EPOR erythropoietin receptor gene DOID:10763 hypertension susceptibility ISO RGD:736105 D RGD:9068941 20200609 RGD induced by erythropoietin; PMID:19458615|REF_RGD_ID:11041646 12184197 EPOR erythropoietin receptor gene DOID:10780 primary polycythemia ISO RGD:736105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial erythrocytosis 12184197 EPOR erythropoietin receptor gene DOID:13025 retinopathy of prematurity ISO RGD:2560 D RGD:9068941 20200609 RGD protein:increased expression,increased activity:retina: PMID:24630601|REF_RGD_ID:11041658 12184197 EPOR erythropoietin receptor gene DOID:13413 hepatic encephalopathy ISO RGD:2560 D RGD:9068941 20200609 RGD associated with Hypertension, Portal PMID:24382264|REF_RGD_ID:10395388 12184197 EPOR erythropoietin receptor gene DOID:1612 breast cancer ISO RGD:736105 D RGD:9068941 20200609 RGD protein:increased expression:breast: PMID:12118093|REF_RGD_ID:11041669 12184197 EPOR erythropoietin receptor gene DOID:1686 glaucoma ISO RGD:2560 D RGD:9068941 20200609 RGD protein:increased expression:retina: PMID:17554621|REF_RGD_ID:11041649 12184197 EPOR erythropoietin receptor gene DOID:1909 melanoma ISO RGD:736105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21860424 12184197 EPOR erythropoietin receptor gene DOID:2228 thrombocytosis ISO RGD:10532 D RGD:9068941 20200609 RGD PMID:8400289|REF_RGD_ID:11041647 12184197 EPOR erythropoietin receptor gene DOID:2316 brain ischemia ISO RGD:2560 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:14732457|REF_RGD_ID:11041652 12184197 EPOR erythropoietin receptor gene DOID:2355 anemia ISO RGD:10532 D RGD:9068941 20200609 RGD PMID:9808048|REF_RGD_ID:11041637 12184197 EPOR erythropoietin receptor gene DOID:2355 anemia susceptibility ISO RGD:736105 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic; PMID:23080113|REF_RGD_ID:11041607 12184197 EPOR erythropoietin receptor gene DOID:3070 high grade glioma ISO RGD:2560 D RGD:9068941 20200609 RGD PMID:21749867|REF_RGD_ID:10400910 12184197 EPOR erythropoietin receptor gene DOID:3070 high grade glioma ISO RGD:736105 D RGD:9068941 20200609 RGD PMID:21749867|REF_RGD_ID:10400910 12184197 EPOR erythropoietin receptor gene DOID:3413 alpha-mannosidosis ISO RGD:736105 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12184197 EPOR erythropoietin receptor gene DOID:4947 cholangiocarcinoma ISO RGD:2560 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:23052842|REF_RGD_ID:10400912 12184197 EPOR erythropoietin receptor gene DOID:5327 retinal detachment ISO RGD:2560 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:retina: PMID:17882708|REF_RGD_ID:11041648 12184197 EPOR erythropoietin receptor gene DOID:5844 myocardial infarction ISO RGD:2560 D RGD:9068941 20200609 RGD PMID:21415704|REF_RGD_ID:10400907 12184197 EPOR erythropoietin receptor gene DOID:630 genetic disease ISO RGD:736105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184197 EPOR erythropoietin receptor gene DOID:783 end stage renal disease ISO RGD:2560 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:27468524|REF_RGD_ID:11532749 12184197 EPOR erythropoietin receptor gene DOID:8432 polycythemia ISO RGD:736105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC PMID:10498627|PMID:1653276|PMID:17488692|PMID:1954391|PMID:24115288|PMID:25741868|PMID:26010769|PMID:27993330|PMID:28492532|PMID:4052634|PMID:7795221|PMID:8093406|PMID:8174675|PMID:8506290|PMID:8608241|PMID:9292543|PMID:9394420|PMID:9488636|PMID:9649565 12184197 EPOR erythropoietin receptor gene DOID:8997 polycythemia vera ISO RGD:736105 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood cell: PMID:9207443|REF_RGD_ID:11041603 12184197 EPOR erythropoietin receptor gene DOID:9000892 Fetal Distress ISO RGD:2560 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:22099204|REF_RGD_ID:10401064 12184197 EPOR erythropoietin receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:736105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16699298 12184197 EPOR erythropoietin receptor gene DOID:9000998 Brain Injuries ISO RGD:2560 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:18093155|REF_RGD_ID:2293059 12184197 EPOR erythropoietin receptor gene DOID:9001553 Spinal Cord Compression ISO RGD:2560 D RGD:9068941 20200609 RGD protein:increased expression:neuron, endothelium, glia: PMID:15792521|REF_RGD_ID:11041719 12184197 EPOR erythropoietin receptor gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2560 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver: PMID:25769561|REF_RGD_ID:15090809 12184197 EPOR erythropoietin receptor gene DOID:9002955 Nerve Degeneration ISO RGD:736105 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19497871 12184197 EPOR erythropoietin receptor gene DOID:9004547 Thyroid Neoplasms ISO RGD:736105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16699298 12184197 EPOR erythropoietin receptor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16699298 12184197 EPOR erythropoietin receptor gene DOID:9004756 Brain Hypoxia ISO RGD:2560 D RGD:9068941 20200609 RGD PMID:21116766|REF_RGD_ID:10400899 12184197 EPOR erythropoietin receptor gene DOID:9004756 Brain Hypoxia treatment ISO RGD:2560 D RGD:9068941 20200609 RGD associated with Brain Injuries PMID:24344874|REF_RGD_ID:10401067 12184197 EPOR erythropoietin receptor gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2560 D RGD:9068941 20200609 RGD PMID:12118093|REF_RGD_ID:11041669 12184197 EPOR erythropoietin receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2560 D RGD:9068941 20200609 RGD mRNA:increased expression:Schwann cell: PMID:24673486|REF_RGD_ID:11041670 12184197 EPOR erythropoietin receptor gene DOID:9008939 Breast Neoplasms ISO RGD:736105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19706814 12184197 EPOR erythropoietin receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:736105 D RGD:9068941 20200609 RGD PMID:23151030|REF_RGD_ID:11041604 12184225 TSSK2 testis specific serine kinase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1606567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12184225 TSSK2 testis specific serine kinase 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1606567 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12184225 TSSK2 testis specific serine kinase 2 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1606567 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12184225 TSSK2 testis specific serine kinase 2 gene DOID:0111996 immunodeficiency 51 ISO RGD:1606567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12184225 TSSK2 testis specific serine kinase 2 gene DOID:1059 intellectual disability ISO RGD:1606567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12184225 TSSK2 testis specific serine kinase 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1606567 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12184225 TSSK2 testis specific serine kinase 2 gene DOID:11372 megacolon ISO RGD:1606567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12184225 TSSK2 testis specific serine kinase 2 gene DOID:12583 velocardiofacial syndrome ISO RGD:1606567 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12184225 TSSK2 testis specific serine kinase 2 gene DOID:12849 autistic disorder ISO RGD:1606567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12184225 TSSK2 testis specific serine kinase 2 gene DOID:1826 epilepsy ISO RGD:1606567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12184225 TSSK2 testis specific serine kinase 2 gene DOID:5419 schizophrenia ISO RGD:1606567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12184225 TSSK2 testis specific serine kinase 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1606567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12184225 TSSK2 testis specific serine kinase 2 gene DOID:630 genetic disease ISO RGD:1606567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184225 TSSK2 testis specific serine kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12184225 TSSK2 testis specific serine kinase 2 gene DOID:9007661 Dwarfism ISO RGD:1606567 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12184225 TSSK2 testis specific serine kinase 2 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1606567 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12184226 RARG retinoic acid receptor gamma gene DOID:0060673 Peters anomaly ISO RGD:735465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459 12184226 RARG retinoic acid receptor gamma gene DOID:114 heart disease ISO RGD:735465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26237429 12184226 RARG retinoic acid receptor gamma gene DOID:630 genetic disease ISO RGD:735465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184226 RARG retinoic acid receptor gamma gene DOID:674 cleft palate ISO RGD:735465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21807577 12184226 RARG retinoic acid receptor gamma gene DOID:9002371 Cardiotoxicity ISO RGD:735465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26237429 12184226 RARG retinoic acid receptor gamma gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:735465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9142499 12184259 LTBR lymphotoxin beta receptor gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1319795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12184259 LTBR lymphotoxin beta receptor gene DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 ISO RGD:1319795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 PMID:25741868 12184259 LTBR lymphotoxin beta receptor gene DOID:0080526 bronchiectasis 1 ISO RGD:1319795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 12184259 LTBR lymphotoxin beta receptor gene DOID:0080527 bronchiectasis 2 ISO RGD:1319795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2 PMID:25741868 12184259 LTBR lymphotoxin beta receptor gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1319795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12184259 LTBR lymphotoxin beta receptor gene DOID:0111621 Temtamy syndrome ISO RGD:1319795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12184259 LTBR lymphotoxin beta receptor gene DOID:12365 malaria ISO RGD:1319795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15788153 12184259 LTBR lymphotoxin beta receptor gene DOID:630 genetic disease ISO RGD:1319795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184259 LTBR lymphotoxin beta receptor gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1319795 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 12184259 LTBR lymphotoxin beta receptor gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1319795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12184279 PCDHB1 protocadherin beta 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1318719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12184279 PCDHB1 protocadherin beta 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12184279 PCDHB1 protocadherin beta 1 gene DOID:10283 prostate cancer ISO RGD:1318719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12184279 PCDHB1 protocadherin beta 1 gene DOID:630 genetic disease ISO RGD:1318719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184279 PCDHB1 protocadherin beta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12184279 PCDHB1 protocadherin beta 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12184282 RPS6KA1 ribosomal protein S6 kinase A1 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:732451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29109170 12184282 RPS6KA1 ribosomal protein S6 kinase A1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:732451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12184282 RPS6KA1 ribosomal protein S6 kinase A1 gene DOID:630 genetic disease ISO RGD:732451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184282 RPS6KA1 ribosomal protein S6 kinase A1 gene DOID:8541 Sezary's disease ISO RGD:732451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 12184327 RNF144B ring finger protein 144B gene DOID:630 genetic disease ISO RGD:1318869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184327 RNF144B ring finger protein 144B gene DOID:9007715 Endometrial Neoplasms ISO RGD:1318869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29724995 12184345 KIRREL1 kirre like nephrin family adhesion molecule 1 gene DOID:0112266 nephrotic syndrome type 23 ISO RGD:1349040 D RGD:7240710 20210324 OMIM 12184345 KIRREL1 kirre like nephrin family adhesion molecule 1 gene DOID:0112266 nephrotic syndrome type 23 ISO RGD:1349040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 23 PMID:31472902 12184345 KIRREL1 kirre like nephrin family adhesion molecule 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1349040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12184345 KIRREL1 kirre like nephrin family adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:1349040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184345 KIRREL1 kirre like nephrin family adhesion molecule 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12184366 PLCH2 phospholipase C eta 2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1346590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12184366 PLCH2 phospholipase C eta 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1346590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12184366 PLCH2 phospholipase C eta 2 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1346590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12184366 PLCH2 phospholipase C eta 2 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1346590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12184366 PLCH2 phospholipase C eta 2 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1346590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12184366 PLCH2 phospholipase C eta 2 gene DOID:0111934 immunodeficiency 38 ISO RGD:1346590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12184366 PLCH2 phospholipase C eta 2 gene DOID:0111935 immunodeficiency 16 ISO RGD:1346590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12184366 PLCH2 phospholipase C eta 2 gene DOID:630 genetic disease ISO RGD:1346590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184366 PLCH2 phospholipase C eta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12184366 PLCH2 phospholipase C eta 2 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1346590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12184366 PLCH2 phospholipase C eta 2 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1346590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12184399 VAC14 VAC14 component of PIKFYVE complex gene DOID:0060589 Yunis-Varon syndrome ISO RGD:1347283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Yunis-Varon syndrome PMID:28492532|PMID:28635952 12184399 VAC14 VAC14 component of PIKFYVE complex gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1347283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12184399 VAC14 VAC14 component of PIKFYVE complex gene DOID:1289 neurodegenerative disease ISO RGD:1347283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder 12184399 VAC14 VAC14 component of PIKFYVE complex gene DOID:2661 myoepithelioma ISO RGD:1347283 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12184399 VAC14 VAC14 component of PIKFYVE complex gene DOID:630 genetic disease ISO RGD:1347283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:27292112|PMID:28492532|PMID:9536098 12184399 VAC14 VAC14 component of PIKFYVE complex gene DOID:9000686 Striatonigral Degeneration, Childhood-Onset ISO RGD:1347283 D RGD:7240710 20190315 OMIM 12184399 VAC14 VAC14 component of PIKFYVE complex gene DOID:9000686 Striatonigral Degeneration, Childhood-Onset ISO RGD:1347283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Striatonigral degeneration, childhood-onset PMID:25741868|PMID:27292112|PMID:28492532 12184422 LOC490387 left-right determination factor 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1348079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral heterotaxy 12184422 LOC490387 left-right determination factor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1348079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12184422 LOC490387 left-right determination factor 1 gene DOID:630 genetic disease ISO RGD:1348079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28166811|PMID:28492532 12184422 LOC490387 left-right determination factor 1 gene DOID:9004205 Left-Right Axis Malformations ISO RGD:1348079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left-right axis malformations PMID:10053005|PMID:25741868|PMID:28166811|PMID:28492532 12184422 LOC490387 left-right determination factor 1 gene DOID:9007456 Female Infertility ISO RGD:1348079 D RGD:9068941 20200609 RGD PMID:10902804|REF_RGD_ID:1598793 12184422 LOC490387 left-right determination factor 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:1348079 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10053005 12184422 LOC490387 left-right determination factor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12184432 SLC16A6 solute carrier family 16 member 6 gene DOID:289 endometriosis ISO RGD:1343675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12184432 SLC16A6 solute carrier family 16 member 6 gene DOID:630 genetic disease ISO RGD:1343675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184448 HSPB9 heat shock protein family B (small) member 9 gene DOID:630 genetic disease ISO RGD:1319285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184448 HSPB9 heat shock protein family B (small) member 9 gene DOID:9008086 Developmental Disabilities ISO RGD:1319285 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31546644 12184453 GIT1 GIT ArfGAP 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:732720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 12184453 GIT1 GIT ArfGAP 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:732720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499268 12184453 GIT1 GIT ArfGAP 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:732720 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:21499268|REF_RGD_ID:11344918 12184453 GIT1 GIT ArfGAP 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:737425 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 12184453 GIT1 GIT ArfGAP 1 gene DOID:12858 Huntington's disease ISO RGD:732720 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (human) PMID:15383276|REF_RGD_ID:1549448 12184453 GIT1 GIT ArfGAP 1 gene DOID:630 genetic disease ISO RGD:732720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184453 GIT1 GIT ArfGAP 1 gene DOID:9002362 Hyperkinesis ISO RGD:732720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499268 12184453 GIT1 GIT ArfGAP 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100775 12184453 GIT1 GIT ArfGAP 1 gene DOID:9008023 Memory Disorders ISO RGD:732720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499268 12184453 GIT1 GIT ArfGAP 1 gene DOID:9008582 Developmental Disease ISO RGD:732720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12184501 LOC607149 cyclic AMP-dependent transcription factor ATF-7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12184501 LOC607149 cyclic AMP-dependent transcription factor ATF-7 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1312669 D RGD:9068941 20200609 RGD PMID:26148593|REF_RGD_ID:11055686 12184537 TCTN3 tectonic family member 3 gene DOID:0060027 agammaglobulinemia 4 ISO RGD:1313033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:28492532 12184537 TCTN3 tectonic family member 3 gene DOID:0060374 orofaciodigital syndrome IV ISO RGD:1313033 D RGD:7240710 20180130 OMIM 12184537 TCTN3 tectonic family member 3 gene DOID:0060374 orofaciodigital syndrome IV ISO RGD:1313033 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Orofacial-digital syndrome IV PMID:16199547|PMID:17576681|PMID:22883145|PMID:24033266|PMID:25118024|PMID:25741868|PMID:26092869|PMID:2692869|PMID:27377014|PMID:28333917|PMID:28492532|PMID:28771248|PMID:30976395|PMID:33098376|PMID:9536098 12184537 TCTN3 tectonic family member 3 gene DOID:0110987 Joubert Syndrome 18 ISO RGD:1313033 D RGD:7240710 20180130 OMIM 12184537 TCTN3 tectonic family member 3 gene DOID:0110987 Joubert Syndrome 18 ISO RGD:1313033 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joubert syndrome 18 PMID:22883145|PMID:25741868|PMID:26092869|PMID:27377014|PMID:28492532|PMID:28771248 12184537 TCTN3 tectonic family member 3 gene DOID:2843 long QT syndrome ISO RGD:1313033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12184537 TCTN3 tectonic family member 3 gene DOID:630 genetic disease ISO RGD:1313033 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22883145|PMID:25118024|PMID:25741868|PMID:2692869|PMID:28492532 12184537 TCTN3 tectonic family member 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1313033 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 12184558 ACSM3 acyl-CoA synthetase medium chain family member 3 gene DOID:10763 hypertension ISO RGD:62086 D RGD:9068941 20200609 RGD PMID:8094726|PMID:8507454|REF_RGD_ID:61050|REF_RGD_ID:634023 12184558 ACSM3 acyl-CoA synthetase medium chain family member 3 gene DOID:10825 essential hypertension no_association ISO RGD:735798 D RGD:9068941 20200609 RGD PMID:11592044|REF_RGD_ID:1579978 12184558 ACSM3 acyl-CoA synthetase medium chain family member 3 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:735798 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:12484505|REF_RGD_ID:7241283 12184558 ACSM3 acyl-CoA synthetase medium chain family member 3 gene DOID:630 genetic disease ISO RGD:735798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184558 ACSM3 acyl-CoA synthetase medium chain family member 3 gene DOID:8577 ulcerative colitis ISO RGD:735798 D RGD:9068941 20200609 RGD mRNA:decreased expression:colonic mucosa PMID:21987487|REF_RGD_ID:7241281 12184558 ACSM3 acyl-CoA synthetase medium chain family member 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 12184558 ACSM3 acyl-CoA synthetase medium chain family member 3 gene DOID:9002569 Overweight ISO RGD:735798 D RGD:9068941 20200609 RGD associated with Hypertension, Essential;DNA:polymorphism:intron: PMID:14567496|REF_RGD_ID:7241282 12184558 ACSM3 acyl-CoA synthetase medium chain family member 3 gene DOID:9004131 NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES ISO RGD:735798 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with speech delay and variable ocular anomalies PMID:25741868|PMID:30237576|PMID:35196516 12184558 ACSM3 acyl-CoA synthetase medium chain family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735798 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30237576|PMID:35196516 12184558 ACSM3 acyl-CoA synthetase medium chain family member 3 gene DOID:9282 ocular hypertension ISO RGD:62086 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina, muller cell PMID:17102796|REF_RGD_ID:1601004 12184580 POLR3G RNA polymerase III subunit G gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348674 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12184580 POLR3G RNA polymerase III subunit G gene DOID:630 genetic disease ISO RGD:1348674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184580 POLR3G RNA polymerase III subunit G gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12184580 POLR3G RNA polymerase III subunit G gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348674 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12184606 TMEM143 transmembrane protein 143 gene DOID:630 genetic disease ISO RGD:1602477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184618 ITPKC inositol-trisphosphate 3-kinase C gene DOID:13378 Kawasaki disease ISO RGD:1345351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18084290 12184618 ITPKC inositol-trisphosphate 3-kinase C gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1345351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12184618 ITPKC inositol-trisphosphate 3-kinase C gene DOID:1342 congenital hypoplastic anemia ISO RGD:1345351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12184618 ITPKC inositol-trisphosphate 3-kinase C gene DOID:2340 craniosynostosis ISO RGD:1345351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12184618 ITPKC inositol-trisphosphate 3-kinase C gene DOID:3362 coronary aneurysm ISO RGD:1345351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18084290 12184618 ITPKC inositol-trisphosphate 3-kinase C gene DOID:630 genetic disease ISO RGD:1345351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184618 ITPKC inositol-trisphosphate 3-kinase C gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1345351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12184618 ITPKC inositol-trisphosphate 3-kinase C gene DOID:9256 colorectal cancer susceptibility ISO RGD:1345351 D RGD:9068941 20220617 RGD DNA:SNP:intron: (rs2607420) (human) PMID:33470690|REF_RGD_ID:152995405 12184618 ITPKC inositol-trisphosphate 3-kinase C gene DOID:9269 maple syrup urine disease ISO RGD:1345351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12184629 FMC1 formation of mitochondrial complex V assembly factor 1 homolog gene DOID:0080690 RASopathy ISO RGD:1606950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12184629 FMC1 formation of mitochondrial complex V assembly factor 1 homolog gene DOID:13548 secondary Parkinson disease ISO RGD:1606950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29371327 12184629 FMC1 formation of mitochondrial complex V assembly factor 1 homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12184629 FMC1 formation of mitochondrial complex V assembly factor 1 homolog gene DOID:9002877 Parkinson's Disease, Mitochondrial ISO RGD:1606950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29371327 12184635 KLK9 kallikrein related peptidase 9 gene DOID:630 genetic disease ISO RGD:1317964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184643 ZSCAN26 zinc finger and SCAN domain containing 26 gene DOID:11372 megacolon ISO RGD:1345585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12184643 ZSCAN26 zinc finger and SCAN domain containing 26 gene DOID:630 genetic disease ISO RGD:1345585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184717 C12H6orf226 chromosome 12 C6orf226 homolog gene DOID:0050444 infantile Refsum disease ISO RGD:1602792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12184717 C12H6orf226 chromosome 12 C6orf226 homolog gene DOID:630 genetic disease ISO RGD:1602792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184717 C12H6orf226 chromosome 12 C6orf226 homolog gene DOID:905 Zellweger syndrome ISO RGD:1602792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12184741 FCGRT Fc gamma receptor and transporter gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:736100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12184741 FCGRT Fc gamma receptor and transporter gene DOID:630 genetic disease ISO RGD:736100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184760 CARS2 cysteinyl-tRNA synthetase 2, mitochondrial gene DOID:0111489 combined oxidative phosphorylation deficiency 27 ISO RGD:1606504 D RGD:7240710 20180130 OMIM 12184760 CARS2 cysteinyl-tRNA synthetase 2, mitochondrial gene DOID:0111489 combined oxidative phosphorylation deficiency 27 ISO RGD:1606504 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 PMID:16199547|PMID:17576681|PMID:25361775|PMID:25640679|PMID:25741868|PMID:25787132|PMID:28492532|PMID:30139652|PMID:9536098 12184760 CARS2 cysteinyl-tRNA synthetase 2, mitochondrial gene DOID:10907 microcephaly ISO RGD:1606504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12184760 CARS2 cysteinyl-tRNA synthetase 2, mitochondrial gene DOID:2222 factor X deficiency ISO RGD:1606504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12184760 CARS2 cysteinyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1606504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30139652 12184760 CARS2 cysteinyl-tRNA synthetase 2, mitochondrial gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1606504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12184798 P3H2 prolyl 3-hydroxylase 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1312081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290 12184798 P3H2 prolyl 3-hydroxylase 2 gene DOID:5295 intestinal disease IAGP D RGD:12801476 20220126 OMIA Lundehund syndrome PMID:853728|PMID:27485430|PMID:7946268|PMID:25860808 12184798 P3H2 prolyl 3-hydroxylase 2 gene DOID:5419 schizophrenia ISO RGD:1312081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12184798 P3H2 prolyl 3-hydroxylase 2 gene DOID:630 genetic disease ISO RGD:1312081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12184798 P3H2 prolyl 3-hydroxylase 2 gene DOID:9005145 High Myopia with Cataract and Vitreoretinal Degeneration ISO RGD:1312081 D RGD:7240710 20180130 OMIM 12184798 P3H2 prolyl 3-hydroxylase 2 gene DOID:9005145 High Myopia with Cataract and Vitreoretinal Degeneration ISO RGD:1312081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopia, high, with cataract and vitreoretinal degeneration PMID:21885030|PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290 12184817 PTAR1 protein prenyltransferase alpha subunit repeat containing 1 gene DOID:630 genetic disease ISO RGD:1313649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184828 AURKA aurora kinase A gene DOID:0080600 COVID-19 ISO RGD:1353168 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12184828 AURKA aurora kinase A gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1353168 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder PMID:18485461|REF_RGD_ID:2293871 12184828 AURKA aurora kinase A gene DOID:1909 melanoma ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12184828 AURKA aurora kinase A gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:1353168 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary PMID:18314619|REF_RGD_ID:2293872 12184828 AURKA aurora kinase A gene DOID:219 colon cancer ISO RGD:1353168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer, susceptibility to PMID:10511710|PMID:12881723|PMID:9771714 12184828 AURKA aurora kinase A gene DOID:2394 ovarian cancer susceptibility ISO RGD:1353168 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.F31I PMID:15466974|REF_RGD_ID:2293884 12184828 AURKA aurora kinase A gene DOID:2871 endometrial carcinoma ISO RGD:1353168 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:endometrium PMID:16311121|REF_RGD_ID:2293878 12184828 AURKA aurora kinase A gene DOID:3008 invasive ductal carcinoma ISO RGD:1353168 D RGD:9068941 20200609 RGD protein:altered expression PMID:14693746|REF_RGD_ID:1643348 12184828 AURKA aurora kinase A gene DOID:363 uterine cancer susceptibility ISO RGD:1353168 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.F31I PMID:17599395|REF_RGD_ID:2293873 12184828 AURKA aurora kinase A gene DOID:4450 renal cell carcinoma ISO RGD:1353168 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:17349527|REF_RGD_ID:1643346 12184828 AURKA aurora kinase A gene DOID:574 peripheral nervous system disease ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 12184828 AURKA aurora kinase A gene DOID:630 genetic disease ISO RGD:1353168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184828 AURKA aurora kinase A gene DOID:684 hepatocellular carcinoma ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12184828 AURKA aurora kinase A gene DOID:769 neuroblastoma ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22588779 12184828 AURKA aurora kinase A gene DOID:8634 prostate carcinoma in situ ISO RGD:1353168 D RGD:9068941 20200609 RGD PMID:16707419|REF_RGD_ID:2293877 12184828 AURKA aurora kinase A gene DOID:8634 prostate carcinoma in situ ISO RGD:1353168 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:15754349|REF_RGD_ID:2293883 12184828 AURKA aurora kinase A gene DOID:9002265 Kidney Neoplasms ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18497064 12184828 AURKA aurora kinase A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17898866 12184828 AURKA aurora kinase A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353168 D RGD:9068941 20200609 RGD PMID:16707419|REF_RGD_ID:2293877 12184828 AURKA aurora kinase A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353168 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:15754349|REF_RGD_ID:2293883 12184828 AURKA aurora kinase A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1552819 D RGD:9068941 20200609 RGD PMID:16707419|REF_RGD_ID:2293877 12184828 AURKA aurora kinase A gene DOID:9003882 Chromosomal Instability ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24976383 12184828 AURKA aurora kinase A gene DOID:9004017 Chronic Hepatitis C ISO RGD:1353168 D RGD:9068941 20200626 RGD mRNA:increased expression:CD19+Bcell: PMID:20189883|REF_RGD_ID:32716380 12184828 AURKA aurora kinase A gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:1353168 D RGD:9068941 20200609 RGD PMID:17465238|REF_RGD_ID:2293874 12184828 AURKA aurora kinase A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12124350 12184828 AURKA aurora kinase A gene DOID:9008443 Colorectal Neoplasms ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24976383 12184828 AURKA aurora kinase A gene DOID:9008692 Aneuploidy ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24976383 12184828 AURKA aurora kinase A gene DOID:9008939 Breast Neoplasms ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18497064 12184828 AURKA aurora kinase A gene DOID:9256 colorectal cancer susceptibility ISO RGD:1353168 D RGD:7240710 20230505 OMIM 12184828 AURKA aurora kinase A gene DOID:9538 multiple myeloma ISO RGD:1353168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12184844 RNF180 ring finger protein 180 gene DOID:630 genetic disease ISO RGD:1347772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184844 RNF180 ring finger protein 180 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12184844 RNF180 ring finger protein 180 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1347772 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34998818 12184867 RTP4 receptor transporter protein 4 gene DOID:5419 schizophrenia ISO RGD:1605965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12184867 RTP4 receptor transporter protein 4 gene DOID:630 genetic disease ISO RGD:1605965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184867 RTP4 receptor transporter protein 4 gene DOID:9001488 Human Influenza ISO RGD:1605965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12184877 ARHGAP30 Rho GTPase activating protein 30 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1604190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12184877 ARHGAP30 Rho GTPase activating protein 30 gene DOID:11612 polycystic ovary syndrome ISO RGD:1604190 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12184877 ARHGAP30 Rho GTPase activating protein 30 gene DOID:1540 parathyroid carcinoma ISO RGD:1604190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12184877 ARHGAP30 Rho GTPase activating protein 30 gene DOID:630 genetic disease ISO RGD:1604190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184877 ARHGAP30 Rho GTPase activating protein 30 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604190 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12184877 ARHGAP30 Rho GTPase activating protein 30 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12184897 MAB21L4 mab-21 like 4 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1605342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12184897 MAB21L4 mab-21 like 4 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1605342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12184897 MAB21L4 mab-21 like 4 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1605342 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12184897 MAB21L4 mab-21 like 4 gene DOID:1059 intellectual disability ISO RGD:1605342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12184897 MAB21L4 mab-21 like 4 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1605342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12184912 RN7SL1 RNA, 7SL, cytoplasmic 1 gene DOID:0080600 COVID-19 ISO RGD:1351215 D RGD:9068941 20210730 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12184912 RN7SL1 RNA, 7SL, cytoplasmic 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1351215 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12184912 RN7SL1 RNA, 7SL, cytoplasmic 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12184918 MIR486 microRNA mir-486 gene DOID:0060041 autism spectrum disorder ISO RGD:1604866 D RGD:9068941 20210730 CTD CTD Direct Evidence: marker/mechanism PMID:20868653 12184918 MIR486 microRNA mir-486 gene DOID:11294 arteriovenous malformation ISO RGD:1604866 D RGD:9068941 20221013 RGD miRNA:increased expression:blood plasma (human) PMID:23051042|REF_RGD_ID:155582214 12184918 MIR486 microRNA mir-486 gene DOID:3021 acute kidney failure ISO RGD:1608179 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:30682439|PMID:35279909 12184933 RAC3 Rac family small GTPase 3 gene DOID:1059 intellectual disability ISO RGD:1344542 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30293988 12184933 RAC3 Rac family small GTPase 3 gene DOID:630 genetic disease ISO RGD:1344542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184933 RAC3 Rac family small GTPase 3 gene DOID:9002267 Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies ISO RGD:1344542 D RGD:7240710 20191016 OMIM 12184933 RAC3 Rac family small GTPase 3 gene DOID:9002267 Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies ISO RGD:1344542 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies PMID:25741868|PMID:29276006|PMID:30293988|PMID:35851598 12184933 RAC3 Rac family small GTPase 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1344542 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:35331739 12184941 TEK TEK receptor tyrosine kinase gene DOID:0001816 angiosarcoma ISO RGD:1342531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 12184941 TEK TEK receptor tyrosine kinase gene DOID:0050792 multiple cutaneous and mucosal venous malformations ISO RGD:1342531 D RGD:7240710 20180130 OMIM 12184941 TEK TEK receptor tyrosine kinase gene DOID:0050792 multiple cutaneous and mucosal venous malformations ISO RGD:1342531 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Multiple cutaneous and mucosal venous malformations | ClinVar Annotator: match by term: Segmental undergrowth associated with venous malformation without capillary component PMID:10369874|PMID:19888299|PMID:20301733|PMID:25326635|PMID:25741868|PMID:26319232|PMID:27270174|PMID:28492532|PMID:7783168|PMID:7833915|PMID:8415706|PMID:8980225|PMID:9926914 12184941 TEK TEK receptor tyrosine kinase gene DOID:10808 gastric ulcer ISO RGD:620980 D RGD:9068941 20200609 RGD protein:increased expression:stomach PMID:12768384|REF_RGD_ID:1601496 12184941 TEK TEK receptor tyrosine kinase gene DOID:11294 arteriovenous malformation susceptibility ISO RGD:1342531 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.R849W PMID:8980225|REF_RGD_ID:1578533 12184941 TEK TEK receptor tyrosine kinase gene DOID:12176 goiter ISO RGD:620980 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid PMID:11397875|REF_RGD_ID:1601510 12184941 TEK TEK receptor tyrosine kinase gene DOID:12556 acute kidney tubular necrosis ISO RGD:620980 D RGD:9068941 20200609 RGD associated with Kidney Reperfusion Injury PMID:16284088|REF_RGD_ID:1601494 12184941 TEK TEK receptor tyrosine kinase gene DOID:2316 brain ischemia ISO RGD:620980 D RGD:9068941 20200609 RGD PMID:11919509|REF_RGD_ID:634324 12184941 TEK TEK receptor tyrosine kinase gene DOID:3328 temporal lobe epilepsy ISO RGD:1342531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17533168 12184941 TEK TEK receptor tyrosine kinase gene DOID:3393 coronary artery disease ISO RGD:1342531 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:12814387|REF_RGD_ID:1601489 12184941 TEK TEK receptor tyrosine kinase gene DOID:5176 renal Wilms' tumor ISO RGD:1342531 D RGD:9068941 20221103 RGD human tumor in mouse model PMID:18467665|REF_RGD_ID:155631277 12184941 TEK TEK receptor tyrosine kinase gene DOID:5844 myocardial infarction ISO RGD:620980 D RGD:9068941 20200609 RGD protein:increased expression:ventricle myocardium PMID:16714360|REF_RGD_ID:1601493 12184941 TEK TEK receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1342531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12184941 TEK TEK receptor tyrosine kinase gene DOID:6432 pulmonary hypertension ISO RGD:1342531 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:16917117|REF_RGD_ID:1601487 12184941 TEK TEK receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:620980 D RGD:9068941 20200609 RGD protein:increased expression PMID:16951510|REF_RGD_ID:1601490 12184941 TEK TEK receptor tyrosine kinase gene DOID:9000388 BOCKENHEIMER SYNDROME ISO RGD:1342531 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Bockenheimer syndrome PMID:25741868 12184941 TEK TEK receptor tyrosine kinase gene DOID:9000970 Focal Nodular Hyperplasia ISO RGD:1342531 D RGD:9068941 20221110 RGD mRNA:decreased expression:liver PMID:23870033|REF_RGD_ID:155646133 12184941 TEK TEK receptor tyrosine kinase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1342531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11956651 12184941 TEK TEK receptor tyrosine kinase gene DOID:9002428 Blue Rubber Bleb Nevus Syndrome ISO RGD:1342531 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Blue rubber bleb nevus PMID:10369874|PMID:20301733|PMID:25741868 12184941 TEK TEK receptor tyrosine kinase gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1342531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:10369874|PMID:19888299|PMID:20301733|PMID:25741868|PMID:26319232|PMID:28492532|PMID:7783168|PMID:7833915|PMID:8415706|PMID:8980225|PMID:9926914 12184941 TEK TEK receptor tyrosine kinase gene DOID:9003204 Neovascularization, Pathologic ISO RGD:1342531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17533168 12184941 TEK TEK receptor tyrosine kinase gene DOID:9005164 Primary Congenital Glaucoma 3, E ISO RGD:1342531 D RGD:7240710 20190315 OMIM 12184941 TEK TEK receptor tyrosine kinase gene DOID:9005164 Primary Congenital Glaucoma 3, E ISO RGD:1342531 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glaucoma 3, primary congenital, E PMID:25741868|PMID:27270174|PMID:28492532 12184941 TEK TEK receptor tyrosine kinase gene DOID:9007147 Glaucoma 3, Primary Infantile, B ISO RGD:1342531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12184941 TEK TEK receptor tyrosine kinase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620980 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ventricle myocardium PMID:12737621|REF_RGD_ID:1601505 12184941 TEK TEK receptor tyrosine kinase gene DOID:9119 acute myeloid leukemia ISO RGD:1342531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:19340004|PMID:28492532 12184970 BET1 Bet1 golgi vesicular membrane trafficking protein gene DOID:0080600 COVID-19 ISO RGD:732892 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12184970 BET1 Bet1 golgi vesicular membrane trafficking protein gene DOID:1826 epilepsy ISO RGD:732892 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12184970 BET1 Bet1 golgi vesicular membrane trafficking protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12184978 TOX4 TOX high mobility group box family member 4 gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1350277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11528500|PMID:23105016|PMID:28492532 12184978 TOX4 TOX high mobility group box family member 4 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1350277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12184978 TOX4 TOX high mobility group box family member 4 gene DOID:630 genetic disease ISO RGD:1350277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12184978 TOX4 TOX high mobility group box family member 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350277 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12184991 MYBPC1 myosin binding protein C1 gene DOID:0050646 distal arthrogryposis ISO RGD:1351602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:25741868 12184991 MYBPC1 myosin binding protein C1 gene DOID:0060654 lethal congenital contracture syndrome 4 ISO RGD:1351602 D RGD:7240710 20180130 OMIM 12184991 MYBPC1 myosin binding protein C1 gene DOID:0060654 lethal congenital contracture syndrome 4 ISO RGD:1351602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 4 PMID:18414213|PMID:22610851|PMID:25741868 12184991 MYBPC1 myosin binding protein C1 gene DOID:0080100 congenital myopathy ISO RGD:1550682 D RGD:9068941 20220825 MouseDO OMIM:255300 12184991 MYBPC1 myosin binding protein C1 gene DOID:0111598 distal arthrogryposis type 1B ISO RGD:1351602 D RGD:7240710 20180130 OMIM 12184991 MYBPC1 myosin binding protein C1 gene DOID:0111598 distal arthrogryposis type 1B ISO RGD:1351602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1B PMID:18414213|PMID:20045868|PMID:22415774|PMID:23657818|PMID:23873045|PMID:25741868|PMID:26287277|PMID:28492532 12184991 MYBPC1 myosin binding protein C1 gene DOID:630 genetic disease ISO RGD:1351602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31025394|PMID:31264822 12184991 MYBPC1 myosin binding protein C1 gene DOID:9004398 Congenital Myopathy 16 ISO RGD:1351602 D RGD:7240710 20191016 OMIM 12184991 MYBPC1 myosin binding protein C1 gene DOID:9004398 Congenital Myopathy 16 ISO RGD:1351602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with tremor PMID:18414213|PMID:22610851|PMID:25741868|PMID:28492532|PMID:31025394|PMID:31264822 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0050469 Costello syndrome ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Costello syndrome PMID:28492532 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0050700 cardiomyopathy ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:24728327|PMID:25741868|PMID:26260725|PMID:26530882|PMID:26580448|PMID:26848617|PMID:28492532 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:735645 D RGD:9068941 20200609 RGD PMID:24500602|REF_RGD_ID:11567230 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0050894 ameloblastoma ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859340 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant lymphoma, non-Hodgkin | ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:12068308|PMID:12460918|PMID:12460919|PMID:12960123|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15035987|PMID:17603483|PMID:18186519|PMID:18794803|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19537845|PMID:20350999|PMID:20619739|PMID:21129611|PMID:21483012|PMID:22310681|PMID:22649091|PMID:22773810|PMID:23352452|PMID:23833300|PMID:24033266|PMID:24303953|PMID:24446311|PMID:24920063|PMID:25157968|PMID:26619011|PMID:27236105|PMID:27276561|PMID:28492532|PMID:29595366 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome PMID:12068308|PMID:12198537|PMID:12438234|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12692057|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14678966|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16372351|PMID:16439621|PMID:16474404|PMID:16523510|PMID:16772349|PMID:16804887|PMID:16825433|PMID:17366577|PMID:17374713|PMID:17483702|PMID:17488796|PMID:17496923|PMID:17551924|PMID:17603483|PMID:17703371|PMID:17704260|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18186519|PMID:18398503|PMID:18413255|PMID:18451217|PMID:18456719|PMID:18470943|PMID:18794803|PMID:18854871|PMID:18953432|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19404918|PMID:19416762|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19735675|PMID:19953625|PMID:20008640|PMID:20141835|PMID:20186801|PMID:20301365|PMID:20301557|PMID:20350999|PMID:20395089|PMID:20413299|PMID:20523244|PMID:20619739|PMID:20630094|PMID:20735442|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21063443|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21204800|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21871821|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22190897|PMID:22281684|PMID:22301711|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22876591|PMID:22892241|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23093928|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23312806|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23564332|PMID:23614898|PMID:23680146|PMID:23685455|PMID:23715574|PMID:23756559|PMID:23763990|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23875798|PMID:23907581|PMID:23918947|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24037001|PMID:24088041|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24283439|PMID:24303953|PMID:24388723|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24458522|PMID:24508103|PMID:24512911|PMID:24524299|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24719372|PMID:24775816|PMID:24800029|PMID:24803665|PMID:24918823|PMID:24920063|PMID:2500657|PMID:25024077|PMID:25035421|PMID:25037139|PMID:25079330|PMID:25155755|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25348715|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25533962|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26242988|PMID:26472072|PMID:26582644|PMID:26619011|PMID:26633545|PMID:26678033|PMID:26732095|PMID:26795593|PMID:27146152|PMID:27236105|PMID:27276561|PMID:27322245|PMID:27404270|PMID:27478040|PMID:27480103|PMID:27521173|PMID:28404629|PMID:28492532|PMID:28512244|PMID:28524057|PMID:28650561|PMID:28687512|PMID:28854169|PMID:28891408|PMID:28911804|PMID:28947956|PMID:29084544|PMID:29493581|PMID:29533785|PMID:29752777|PMID:29907801|PMID:29925953|PMID:30094826|PMID:30290804|PMID:30581057|PMID:30820351|PMID:30986545|PMID:31263281|PMID:31277584|PMID:31474318|PMID:31560489|PMID:31779674|PMID:31785789|PMID:31891627|PMID:32005694|PMID:32810930|PMID:32978145|PMID:33040082|PMID:33128510|PMID:33522658|PMID:33683002|PMID:34476331|PMID:4386970|PMID:5771505|PMID:8042262 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060578 Noonan syndrome 1 ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:11313766|PMID:12068308|PMID:12460918|PMID:12460919|PMID:12960123|PMID:15035987|PMID:16007634|PMID:16439621|PMID:16474404|PMID:16804887|PMID:17366577|PMID:17437909|PMID:17551924|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19416762|PMID:20186801|PMID:20224900|PMID:20395089|PMID:20523244|PMID:21063443|PMID:21204800|PMID:21483012|PMID:21784453|PMID:21871821|PMID:22190897|PMID:22301711|PMID:22495831|PMID:22649091|PMID:22698809|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22907230|PMID:23093928|PMID:23312806|PMID:23564332|PMID:23644139|PMID:23715574|PMID:23756559|PMID:23833300|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24775816|PMID:24803665|PMID:2500657|PMID:25035421|PMID:25157968|PMID:25741868|PMID:25754625|PMID:26242988|PMID:26361991|PMID:26472072|PMID:26633545|PMID:27146152|PMID:27322245|PMID:27329734|PMID:27478040|PMID:28404629|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28687512|PMID:28911804|PMID:29522538|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30986545|PMID:31560489|PMID:32978145|PMID:33040082|PMID:33522658|PMID:34573299 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060585 Noonan syndrome 7 ISO RGD:735645 D RGD:7240710 20180130 OMIM 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060585 Noonan syndrome 7 ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Noonan syndrome 7 PMID:11313766|PMID:12068308|PMID:12460918|PMID:12460919|PMID:12810628|PMID:12960123|PMID:14749708|PMID:15035987|PMID:15578519|PMID:16007634|PMID:16439621|PMID:16474404|PMID:16619251|PMID:17344846|PMID:17366577|PMID:17437909|PMID:17551924|PMID:17603483|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18413255|PMID:18456719|PMID:18470943|PMID:18794803|PMID:18854871|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19416762|PMID:19537845|PMID:20186801|PMID:20224900|PMID:20301557|PMID:20350999|PMID:20395089|PMID:21062266|PMID:21129611|PMID:21204800|PMID:21483012|PMID:21784453|PMID:21871821|PMID:22190897|PMID:22301711|PMID:22310681|PMID:22495831|PMID:22649091|PMID:22698809|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22907230|PMID:23093928|PMID:23273605|PMID:23312806|PMID:23564332|PMID:23644139|PMID:23715574|PMID:23756559|PMID:23833300|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24451042|PMID:24524299|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24803665|PMID:24920063|PMID:2500657|PMID:25035421|PMID:25157968|PMID:25463315|PMID:25533962|PMID:25741868|PMID:25754625|PMID:26242988|PMID:26260725|PMID:26361991|PMID:26472072|PMID:26530882|PMID:26580448|PMID:26619011|PMID:26633545|PMID:26848617|PMID:27146152|PMID:27322245|PMID:27329734|PMID:27478040|PMID:28404629|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28650561|PMID:28687512|PMID:28783719|PMID:29522538|PMID:29540830|PMID:29907801|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30986545|PMID:31336229|PMID:31560489|PMID:32978145|PMID:33040082|PMID:33522658|PMID:34573299 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0080550 Noonan syndrome with multiple lentigines 3 ISO RGD:735645 D RGD:7240710 20180130 OMIM 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0080550 Noonan syndrome with multiple lentigines 3 ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 3 PMID:12068308|PMID:12810628|PMID:12960123|PMID:14749708|PMID:15578519|PMID:16439621|PMID:16474404|PMID:16619251|PMID:17344846|PMID:17366577|PMID:17551924|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18470943|PMID:18854871|PMID:19206169|PMID:19376813|PMID:19416762|PMID:20301557|PMID:20395089|PMID:21784453|PMID:21871821|PMID:22190897|PMID:22301711|PMID:22495831|PMID:23312806|PMID:23564332|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24920063|PMID:2500657|PMID:25035421|PMID:25741868|PMID:26242988|PMID:26260725|PMID:26472072|PMID:26530882|PMID:26580448|PMID:26633545|PMID:26848617|PMID:27146152|PMID:27322245|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28687512|PMID:30290804|PMID:30581057|PMID:30986545|PMID:31560489 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:11313766|PMID:12068308|PMID:12198537|PMID:12414817|PMID:12438234|PMID:12460918|PMID:12460919|PMID:12692057|PMID:12960123|PMID:14612909|PMID:14678966|PMID:14679157|PMID:14688025|PMID:14749708|PMID:15035987|PMID:15578519|PMID:16007634|PMID:16199547|PMID:16372351|PMID:16439621|PMID:16474404|PMID:16611712|PMID:16619251|PMID:16804887|PMID:16825433|PMID:17088437|PMID:17314276|PMID:17344846|PMID:17366577|PMID:17437909|PMID:17483702|PMID:17496923|PMID:17551924|PMID:17555829|PMID:17576681|PMID:17603482|PMID:17603483|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18186519|PMID:18413255|PMID:18451217|PMID:18456719|PMID:18470943|PMID:18794803|PMID:18854871|PMID:18953432|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19416762|PMID:19537845|PMID:19593635|PMID:19735675|PMID:19953625|PMID:20141835|PMID:20186801|PMID:20224900|PMID:20301365|PMID:20301557|PMID:20350999|PMID:20395089|PMID:20523244|PMID:20619739|PMID:20735442|PMID:20818844|PMID:20859831|PMID:2102266|PMID:21062266|PMID:21063443|PMID:21129611|PMID:21135229|PMID:21204800|PMID:21483012|PMID:21639808|PMID:21784453|PMID:21871821|PMID:22048237|PMID:22190897|PMID:22301711|PMID:22310681|PMID:22356324|PMID:22495831|PMID:22538770|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22675565|PMID:22698809|PMID:22735384|PMID:22798288|PMID:22805292|PMID:22876591|PMID:22892241|PMID:22907230|PMID:22972589|PMID:23020132|PMID:23093928|PMID:23273605|PMID:23312806|PMID:23321623|PMID:23352452|PMID:23564332|PMID:23644139|PMID:23680146|PMID:23715574|PMID:23756559|PMID:23763990|PMID:23833300|PMID:23875798|PMID:23907581|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24037001|PMID:24066114|PMID:24088041|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24458522|PMID:24524299|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24803665|PMID:24918823|PMID:24920063|PMID:2500657|PMID:25035421|PMID:25155755|PMID:25157968|PMID:25180280|PMID:25337068|PMID:25348715|PMID:25463315|PMID:25533962|PMID:25741868|PMID:25754625|PMID:26242988|PMID:26260725|PMID:26361991|PMID:26472072|PMID:26530882|PMID:26580448|PMID:26582644|PMID:26619011|PMID:26633545|PMID:26732095|PMID:26795593|PMID:26848617|PMID:27146152|PMID:27276561|PMID:27322245|PMID:27329734|PMID:27391121|PMID:27478040|PMID:27521173|PMID:27799065|PMID:28027327|PMID:28404629|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28524057|PMID:28650561|PMID:28687512|PMID:28783719|PMID:28832562|PMID:28911804|PMID:28947956|PMID:29084544|PMID:29493581|PMID:29522538|PMID:29533785|PMID:29540830|PMID:29595366|PMID:29752777|PMID:29907801|PMID:29945942|PMID:30094826|PMID:30181556|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30732632|PMID:30820351|PMID:30986545|PMID:31015455|PMID:31158244|PMID:31263281|PMID:31336229|PMID:31475041|PMID:31560489|PMID:31785789|PMID:32005694|PMID:3265306|PMID:32810930|PMID:32978145|PMID:33040082|PMID:33128510|PMID:33522658|PMID:33683002|PMID:34573299|PMID:8042262|PMID:9536098 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:735645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:24033266|PMID:24446311|PMID:25157968|PMID:26619011 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:25741868 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0111460 cardiofaciocutaneous syndrome 1 ISO RGD:735645 D RGD:7240710 20191106 OMIM 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:0111460 cardiofaciocutaneous syndrome 1 ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 PMID:11313766|PMID:12068308|PMID:15035987|PMID:16007634|PMID:16372351|PMID:16439621|PMID:16474404|PMID:16523510|PMID:16804887|PMID:16825433|PMID:17314276|PMID:17366577|PMID:17437909|PMID:17483702|PMID:17496923|PMID:17551924|PMID:17555829|PMID:17603482|PMID:17603483|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18413255|PMID:18451217|PMID:18456719|PMID:18470943|PMID:18794803|PMID:18854871|PMID:18953432|PMID:19206169|PMID:19376813|PMID:19416762|PMID:19537845|PMID:19593635|PMID:20186801|PMID:20224900|PMID:20301365|PMID:20301557|PMID:20350999|PMID:20395089|PMID:20523244|PMID:20859831|PMID:2102266|PMID:21063443|PMID:21129611|PMID:21784453|PMID:21871821|PMID:22190897|PMID:22301711|PMID:22310681|PMID:22495831|PMID:22538770|PMID:22698809|PMID:22876591|PMID:22907230|PMID:23093928|PMID:23273605|PMID:23312806|PMID:23564332|PMID:23644139|PMID:23680146|PMID:23875798|PMID:23907581|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24037001|PMID:24088041|PMID:24283439|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24524299|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24800029|PMID:24803665|PMID:24920063|PMID:2500657|PMID:25035421|PMID:25155755|PMID:25157968|PMID:25337068|PMID:25463315|PMID:25533962|PMID:25741868|PMID:25754625|PMID:26242988|PMID:26361991|PMID:26472072|PMID:26582644|PMID:26619011|PMID:26633545|PMID:26732095|PMID:27146152|PMID:27276561|PMID:27322245|PMID:27329734|PMID:27391121|PMID:27478040|PMID:28404629|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28524057|PMID:28650561|PMID:28687512|PMID:28783719|PMID:28911804|PMID:28947956|PMID:29084544|PMID:29522538|PMID:29533785|PMID:29540830|PMID:29907801|PMID:30094826|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30732632|PMID:30986545|PMID:31263281|PMID:31474318|PMID:31560489|PMID:3265306|PMID:33040082|PMID:33683002|PMID:34113008|PMID:4386970|PMID:5771505 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:1040 chronic lymphocytic leukemia ISO RGD:735645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:12068308|PMID:12198537|PMID:12960123|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15035987|PMID:16187918|PMID:17096326|PMID:17119447|PMID:17311103|PMID:18368129|PMID:18794803|PMID:19206169|PMID:19383316|PMID:19537845|PMID:19913317|PMID:20350999|PMID:20619739|PMID:21129611|PMID:21639808|PMID:22048237|PMID:22310681|PMID:22495831|PMID:22663011|PMID:22972589|PMID:23352452|PMID:24033266|PMID:24451042|PMID:25157968|PMID:26619011|PMID:28492532|PMID:28832562|PMID:29595366 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:1059 intellectual disability ISO RGD:735645 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:1089 tethered spinal cord syndrome ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Occult spinal dysraphism sequence PMID:16372351|PMID:16523510|PMID:16804887|PMID:16825433|PMID:17551924|PMID:18039235|PMID:18413255|PMID:19206169|PMID:23875798|PMID:24033266|PMID:24283439|PMID:25741868|PMID:31474318|PMID:4386970|PMID:5771505 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:11294 arteriovenous malformation ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arteriovenous malformation PMID:17366577|PMID:25741868|PMID:26795593 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:16439621|PMID:16474404|PMID:18039235|PMID:18413255|PMID:18953432|PMID:19206169|PMID:22495831|PMID:24446311|PMID:24920063|PMID:25157968|PMID:25348715|PMID:25741868|PMID:26732095|PMID:27276561|PMID:28492532|PMID:28524057|PMID:28947956|PMID:31475041 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:12716 newborn respiratory distress syndrome ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:16439621|PMID:16474404|PMID:17366577|PMID:17483702|PMID:17704260|PMID:18413255|PMID:19206169|PMID:20186801|PMID:24033266|PMID:25463315|PMID:25741868|PMID:28492532 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:1324 lung cancer ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic PMID:16439621|PMID:16474404|PMID:17366577|PMID:17551924|PMID:17703371|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19206169|PMID:19376813|PMID:20395089|PMID:21784453|PMID:21871821|PMID:22301711|PMID:22495831|PMID:23312806|PMID:23564332|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24775816|PMID:2500657|PMID:25035421|PMID:25741868|PMID:26242988|PMID:26472072|PMID:26633545|PMID:27146152|PMID:27322245|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28687512|PMID:30986545 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines PMID:17704260|PMID:18042262|PMID:19206169|PMID:19416762|PMID:20301557|PMID:22190897|PMID:23763990|PMID:23950000|PMID:24033266|PMID:25741868|PMID:28404629|PMID:28492532|PMID:30820351 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:14566 disease of cellular proliferation ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12692057|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16772349|PMID:17314276|PMID:17374713|PMID:17488796|PMID:17704260|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18186519|PMID:18398503|PMID:18413255|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19593635|PMID:20008640|PMID:20130576|PMID:20186801|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:2102266|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21204800|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22538770|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23093928|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23680146|PMID:23685455|PMID:23715574|PMID:23756559|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23907581|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24458522|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24926260|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25155755|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29084544|PMID:29493581|PMID:29752777|PMID:29925953|PMID:30732632|PMID:31277584|PMID:31779674|PMID:31891627|PMID:32810930|PMID:32978145|PMID:33522658|PMID:34476331|PMID:8042262 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:1475 lymphangioma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphangioma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:1520 colon carcinoma ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12692057|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17704260|PMID:17785355|PMID:18039235|PMID:18060073|PMID:18398503|PMID:18413255|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19376813|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23680146|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25155755|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:1520 colon carcinoma treatment ISO RGD:735645 D RGD:9068941 20200609 RGD PMID:22319199|REF_RGD_ID:11567267 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:162 cancer ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cancer PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:1657 ventricular septal defect ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:16439621|PMID:16474404|PMID:17366577|PMID:17483702|PMID:17704260|PMID:18413255|PMID:19206169|PMID:20186801|PMID:24033266|PMID:25463315|PMID:25741868|PMID:28492532 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:169 neuroendocrine tumor ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17341847 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:1793 pancreatic cancer ISO RGD:735645 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:22871572|REF_RGD_ID:13461863 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:1793 pancreatic cancer ISO RGD:735646 D RGD:9068941 20200609 RGD PMID:22628411|REF_RGD_ID:13462040 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:1793 pancreatic cancer disease_progression ISO RGD:735646 D RGD:9068941 20200609 RGD PMID:18490924|REF_RGD_ID:13451537 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:1909 melanoma ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:12068308|PMID:12198537|PMID:12438234|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14678966|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15016963|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15753399|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17366577|PMID:17374713|PMID:17488796|PMID:17551924|PMID:17603483|PMID:17703371|PMID:17704260|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18456719|PMID:18794803|PMID:18854871|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19735675|PMID:19913317|PMID:20008640|PMID:20130576|PMID:20141835|PMID:20186801|PMID:20301365|PMID:20350999|PMID:20395089|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20735442|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21204800|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21750866|PMID:21784453|PMID:21871821|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22301711|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23093928|PMID:23248257|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23312806|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23564332|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23756559|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23907581|PMID:23918947|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24458522|PMID:24508103|PMID:24512911|PMID:24524299|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24710085|PMID:24717435|PMID:24719372|PMID:24775816|PMID:24918823|PMID:24920063|PMID:24926260|PMID:2493360|PMID:2500657|PMID:25024077|PMID:25035421|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25348715|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26242988|PMID:26472072|PMID:26582644|PMID:26619011|PMID:26633545|PMID:26678033|PMID:27146152|PMID:27236105|PMID:27276561|PMID:27322245|PMID:27404270|PMID:27478040|PMID:27480103|PMID:28404629|PMID:28492532|PMID:28687512|PMID:2872605|PMID:28832562|PMID:28854169|PMID:28891408|PMID:29084544|PMID:29493581|PMID:29533785|PMID:29595366|PMID:29752777|PMID:29907801|PMID:29925953|PMID:30732632|PMID:30986545|PMID:31277584|PMID:31336229|PMID:31475041|PMID:31779674|PMID:31891627|PMID:32810930|PMID:32978145|PMID:33522658|PMID:33683002|PMID:34476331|PMID:8042262 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:1909 melanoma onset ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:25623140|REF_RGD_ID:11567259 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:1909 melanoma treatment ISO RGD:735645 D RGD:9068941 20200609 RGD PMID:22319199|REF_RGD_ID:11567267 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:2154 nephroblastoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wilms tumor 1 PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:2526 prostate adenocarcinoma ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate | ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:12068308|PMID:12198537|PMID:12460918|PMID:12460919|PMID:12960123|PMID:14612909|PMID:14679157|PMID:15035987|PMID:16187918|PMID:16439621|PMID:16474404|PMID:17603483|PMID:18042262|PMID:18186519|PMID:18794803|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19537845|PMID:20350999|PMID:21129611|PMID:21483012|PMID:21639808|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22048237|PMID:22310681|PMID:22495831|PMID:22649091|PMID:22663011|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:23273605|PMID:23715574|PMID:23833300|PMID:24033266|PMID:24303953|PMID:24446311|PMID:24451042|PMID:24920063|PMID:2493360|PMID:25157968|PMID:25463315|PMID:25741868|PMID:26619011|PMID:27236105|PMID:27276561|PMID:28492532|PMID:28832562|PMID:29907801 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:2571 Langerhans-cell histiocytosis ISO RGD:735646 D RGD:9068941 20220825 MouseDO OMIM:246400 | OMIM:604856 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:2661 myoepithelioma ISO RGD:735645 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor PMID:15016963|PMID:15753399|PMID:19404918|PMID:21750866|PMID:24033266|PMID:25157968 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:2671 transitional cell carcinoma IAGP D RGD:12801476 20230426 OMIA Invasive transitional cell carcinoma PMID:2593174|PMID:15112777|PMID:998613|PMID:25767210|PMID:31627222|PMID:34433660|PMID:34878687|PMID:36439482|PMID:32039002|PMID:24936033|PMID:37079639 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:2671 transitional cell carcinoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:12068308|PMID:12460918|PMID:12460919|PMID:12960123|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15035987|PMID:16439621|PMID:16474404|PMID:16825433|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17603483|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18413255|PMID:18794803|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19537845|PMID:19913317|PMID:20350999|PMID:20619739|PMID:21129611|PMID:21483012|PMID:21784453|PMID:22180495|PMID:22310681|PMID:22649091|PMID:22773810|PMID:23273605|PMID:23352452|PMID:23833300|PMID:24033266|PMID:24303953|PMID:24446311|PMID:24920063|PMID:25157968|PMID:25463315|PMID:25741868|PMID:26619011|PMID:27236105|PMID:27276561|PMID:28492532|PMID:29595366|PMID:29907801 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:2679 dysembryoplastic neuroepithelial tumor ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.V600E(human) PMID:25346165|REF_RGD_ID:11567238 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:2785 Dandy-Walker syndrome ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker malformation PMID:16372351|PMID:16523510|PMID:16804887|PMID:16825433|PMID:17551924|PMID:18039235|PMID:18413255|PMID:19206169|PMID:23875798|PMID:24033266|PMID:24283439|PMID:25741868|PMID:31474318|PMID:4386970|PMID:5771505 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:2871 endometrial carcinoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:28492532 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3068 glioblastoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:16825433|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18039235|PMID:18398503|PMID:18413255|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19376813|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3069 malignant astrocytoma ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23817572 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3069 malignant astrocytoma ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:rearrangement: : PMID:19794125|REF_RGD_ID:11069832 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3069 malignant astrocytoma onset ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.V600E(human) PMID:25346165|REF_RGD_ID:11567238 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3070 high grade glioma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3121 gallbladder cancer ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gallbladder cancer 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3304 germinoma ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.V600E (human) PMID:19289622|REF_RGD_ID:2315865 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3490 Noonan syndrome ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:11313766|PMID:12068308|PMID:12198537|PMID:12460918|PMID:12460919|PMID:12692057|PMID:12960123|PMID:15035987|PMID:16007634|PMID:16439621|PMID:16474404|PMID:16825433|PMID:16953233|PMID:17366577|PMID:17437909|PMID:17551924|PMID:17603482|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18456719|PMID:18854871|PMID:18953432|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19416762|PMID:20224900|PMID:20395089|PMID:20523244|PMID:21483012|PMID:21784453|PMID:21871821|PMID:22190897|PMID:22301711|PMID:22495831|PMID:22649091|PMID:22698809|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22907230|PMID:23026937|PMID:23093928|PMID:23312806|PMID:23564332|PMID:23644139|PMID:23680146|PMID:23715574|PMID:23833300|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24524299|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24803665|PMID:24920063|PMID:25035421|PMID:25155755|PMID:25157968|PMID:25348715|PMID:25463315|PMID:25741868|PMID:25754625|PMID:26242988|PMID:26361991|PMID:26472072|PMID:26619011|PMID:26633545|PMID:26732095|PMID:27146152|PMID:27276561|PMID:27322245|PMID:27329734|PMID:28492532|PMID:28512244|PMID:28524057|PMID:28687512|PMID:28911804|PMID:28947956|PMID:29522538|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30732632|PMID:30986545|PMID:31560489|PMID:3265306|PMID:33040082 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3490 Noonan syndrome ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome | ClinVar Annotator: match by term: Turner phenotype with normal karyotype PMID:11313766|PMID:12068308|PMID:12198537|PMID:12460918|PMID:12460919|PMID:12692057|PMID:12960123|PMID:15035987|PMID:16007634|PMID:16439621|PMID:16474404|PMID:16825433|PMID:16953233|PMID:17366577|PMID:17437909|PMID:17551924|PMID:17603482|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18456719|PMID:18854871|PMID:18953432|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19416762|PMID:19953625|PMID:20186801|PMID:20224900|PMID:20395089|PMID:20523244|PMID:20859831|PMID:21062266|PMID:21204800|PMID:21483012|PMID:21784453|PMID:21871821|PMID:22190897|PMID:22301711|PMID:22495831|PMID:22649091|PMID:22698809|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22907230|PMID:23026937|PMID:23093928|PMID:23312806|PMID:23564332|PMID:23644139|PMID:23680146|PMID:23715574|PMID:23756559|PMID:23833300|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24524299|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24803665|PMID:24920063|PMID:2500657|PMID:25035421|PMID:25155755|PMID:25157968|PMID:25337068|PMID:25348715|PMID:25463315|PMID:25741868|PMID:25754625|PMID:26242988|PMID:26361991|PMID:26472072|PMID:26619011|PMID:26633545|PMID:26732095|PMID:27146152|PMID:27276561|PMID:27322245|PMID:27329734|PMID:27478040|PMID:28404629|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28524057|PMID:28687512|PMID:28783719|PMID:28911804|PMID:28947956|PMID:29522538|PMID:29540830|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30732632|PMID:30986545|PMID:31560489|PMID:31785789|PMID:32005694|PMID:3265306|PMID:32978145|PMID:33040082|PMID:33128510|PMID:33522658 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:363 uterine cancer ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:12068308|PMID:12198537|PMID:12960123|PMID:14679157|PMID:15035987|PMID:16187918|PMID:19206169|PMID:21639808|PMID:22048237|PMID:22495831|PMID:22663011|PMID:22972589|PMID:24033266|PMID:24451042|PMID:25157968|PMID:26619011|PMID:28492532|PMID:28832562 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3717 gastric adenocarcinoma ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:12068308|PMID:12198537|PMID:12960123|PMID:14679157|PMID:15035987|PMID:16187918|PMID:19206169|PMID:21639808|PMID:22048237|PMID:22495831|PMID:22663011|PMID:22972589|PMID:24033266|PMID:24451042|PMID:25157968|PMID:26619011|PMID:28492532|PMID:28832562 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3840 craniopharyngioma ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413733 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3905 lung carcinoma ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18186519|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19404918|PMID:19416762|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20186801|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21204800|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22190897|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23093928|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23756559|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:30290804|PMID:30581057|PMID:31277584|PMID:31560489|PMID:31779674|PMID:31891627|PMID:32978145|PMID:33522658|PMID:34476331 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3907 lung squamous cell carcinoma ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:12068308|PMID:12460918|PMID:12460919|PMID:12960123|PMID:14612909|PMID:15035987|PMID:16439621|PMID:16474404|PMID:17603483|PMID:18042262|PMID:18186519|PMID:18413255|PMID:18794803|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19537845|PMID:20350999|PMID:21062266|PMID:21129611|PMID:21483012|PMID:21784453|PMID:22310681|PMID:22649091|PMID:22773810|PMID:23273605|PMID:23833300|PMID:24033266|PMID:24303953|PMID:24446311|PMID:24920063|PMID:25157968|PMID:25463315|PMID:25741868|PMID:26619011|PMID:27236105|PMID:27276561|PMID:28492532|PMID:29907801|PMID:31336229 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:735645 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer | ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14681681|PMID:14688025|PMID:15001635|PMID:15016963|PMID:15035987|PMID:15046639|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15753399|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17314276|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18039235|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19363522|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19593635|PMID:19794125|PMID:19913317|PMID:20008640|PMID:20186801|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:2102266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21190184|PMID:21204800|PMID:21343559|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21716161|PMID:21750866|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22535154|PMID:22536370|PMID:22538770|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23093928|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23680146|PMID:23685455|PMID:23715574|PMID:23756559|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23907581|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25155755|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:32978145|PMID:33522658|PMID:34476331 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:16825433|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17603483|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22876591|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24446311|PMID:24451042|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24920063|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27236105|PMID:27276561|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28832562|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:16825433|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17603483|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24446311|PMID:24451042|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24920063|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27236105|PMID:27276561|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28832562|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:31277584|PMID:31336229|PMID:31779674|PMID:31891627|PMID:34476331 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3948 adrenocortical carcinoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma PMID:12068308|PMID:14612909|PMID:14679157|PMID:14688025|PMID:17096326|PMID:17119447|PMID:17311103|PMID:18368129|PMID:18794803|PMID:19383316|PMID:19537845|PMID:19913317|PMID:20350999|PMID:20619739|PMID:21129611|PMID:22310681|PMID:23352452|PMID:24033266|PMID:25157968|PMID:26619011|PMID:28492532|PMID:29595366 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NONMEDULLARY THYROID CARCINOMA, PAPILLARY PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:3969 thyroid gland papillary carcinoma onset ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.V600E(human) PMID:22702340|REF_RGD_ID:7241798 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19376813|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22876591|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:735645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:4852 pleomorphic xanthoastrocytoma onset ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.V600E(human) PMID:25346165|REF_RGD_ID:11567238 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:4928 intrahepatic cholangiocarcinoma severity ISO RGD:619908 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V600E (human) PMID:24139215|REF_RGD_ID:14398746 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:4928 intrahepatic cholangiocarcinoma severity ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V600E (human) PMID:24139215|REF_RGD_ID:14398746 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:4928 intrahepatic cholangiocarcinoma severity ISO RGD:735646 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V600E (human) PMID:24139215|REF_RGD_ID:14398746 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:4947 cholangiocarcinoma ISO RGD:619908 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V600E (human) PMID:12692057|REF_RGD_ID:11073239 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:4947 cholangiocarcinoma ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V600E (human) PMID:12692057|REF_RGD_ID:11073239 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:4947 cholangiocarcinoma ISO RGD:735646 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V600E (human) PMID:12692057|REF_RGD_ID:11073239 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:5078 ganglioglioma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood ganglioglioma PMID:19363522|PMID:19794125|PMID:21190184|PMID:21343559|PMID:21716161|PMID:22535154|PMID:24033266 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:5381 bile duct adenoma ISO RGD:619908 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V600E (human) PMID:25704541|REF_RGD_ID:11521169 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:5381 bile duct adenoma ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V600E (human) PMID:25704541|REF_RGD_ID:11521169 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:5381 bile duct adenoma ISO RGD:735646 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V600E (human) PMID:25704541|REF_RGD_ID:11521169 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29925953|PMID:31277584|PMID:31336229|PMID:31775759|PMID:31779674|PMID:31891627|PMID:34476331 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:5742 pancreatic acinar cell adenocarcinoma ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:missense mutation, gene fusions:multiple (human) PMID:25266736|REF_RGD_ID:13462041 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:735645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:24033266|PMID:24446311|PMID:25157968|PMID:26619011|PMID:28492532 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:630 genetic disease ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15035987|PMID:16372351|PMID:16439621|PMID:16474404|PMID:16523510|PMID:16804887|PMID:16825433|PMID:17366577|PMID:17551924|PMID:17555829|PMID:17603482|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18470943|PMID:18854871|PMID:18953432|PMID:19206169|PMID:19376813|PMID:20186801|PMID:20859831|PMID:21063443|PMID:21784453|PMID:22301711|PMID:22495831|PMID:22876591|PMID:23093928|PMID:23312806|PMID:23564332|PMID:23875798|PMID:23975261|PMID:24033266|PMID:24037001|PMID:24088041|PMID:24283439|PMID:24409384|PMID:24446311|PMID:24524299|PMID:24719372|PMID:24775816|PMID:24920063|PMID:2500657|PMID:25035421|PMID:25337068|PMID:25463315|PMID:25741868|PMID:26242988|PMID:26472072|PMID:26619011|PMID:26633545|PMID:26732095|PMID:26795593|PMID:27146152|PMID:27276561|PMID:27322245|PMID:27391121|PMID:27478040|PMID:28492532|PMID:28524057|PMID:28687512|PMID:28783719|PMID:28947956|PMID:29540830|PMID:30986545|PMID:31474318|PMID:3265306|PMID:34573299|PMID:4386970|PMID:5771505 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:6420 pulmonary valve stenosis ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:16439621|PMID:16474404|PMID:17366577|PMID:17483702|PMID:17704260|PMID:18413255|PMID:19206169|PMID:20186801|PMID:24033266|PMID:25463315|PMID:25741868|PMID:28492532 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:6536 plasma cell neoplasm ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17603483|PMID:17785355|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24920063|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27236105|PMID:27276561|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:31277584|PMID:31336229|PMID:31779674|PMID:31891627|PMID:34476331 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27222248 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:8541 Sezary's disease ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:8552 chronic myeloid leukemia ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia PMID:24033266|PMID:24446311|PMID:25157968|PMID:26619011 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:8923 skin melanoma ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17366577|PMID:17374713|PMID:17488796|PMID:17551924|PMID:17603483|PMID:17703371|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18456719|PMID:18794803|PMID:18854871|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20395089|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21871821|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22301711|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23312806|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23564332|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24508103|PMID:24512911|PMID:24524299|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24719372|PMID:24775816|PMID:24920063|PMID:2493360|PMID:2500657|PMID:25024077|PMID:25035421|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26242988|PMID:26472072|PMID:26619011|PMID:26633545|PMID:26678033|PMID:27146152|PMID:27236105|PMID:27276561|PMID:27322245|PMID:27404270|PMID:27478040|PMID:27480103|PMID:28404629|PMID:28492532|PMID:28687512|PMID:28832562|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:30986545|PMID:31277584|PMID:31336229|PMID:31779674|PMID:31891627|PMID:34476331 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9000027 Microsatellite Instability ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9000081 Lymphatic Metastasis ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29426936 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9000625 Nonseminomatous Germ Cell Tumor ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Germ cell tumor, nonseminomatous PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9000881 Cutaneous Malignant Melanoma, Susceptibility To, 1 ISO RGD:735645 D RGD:7240710 20210303 OMIM 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9000881 Cutaneous Malignant Melanoma, Susceptibility To, 1 ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY PMID:16439621|PMID:16474404|PMID:17366577|PMID:17551924|PMID:17703371|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19206169|PMID:19376813|PMID:20395089|PMID:21784453|PMID:21871821|PMID:22301711|PMID:22495831|PMID:23312806|PMID:23564332|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24775816|PMID:2500657|PMID:25035421|PMID:25741868|PMID:26242988|PMID:26472072|PMID:26633545|PMID:27146152|PMID:27322245|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28687512|PMID:30986545 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9000965 Neoplasm Metastasis onset ISO RGD:735645 D RGD:9068941 20200609 RGD associated with Melanoma; DNA:mutations: : PMID:25623140|REF_RGD_ID:11567259 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002170 Experimental Neoplasms ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:12068308|PMID:12198537|PMID:12692057|PMID:12960123|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15035987|PMID:16187918|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17704260|PMID:18039235|PMID:18060073|PMID:18368129|PMID:18413255|PMID:18794803|PMID:19206169|PMID:19376813|PMID:19383316|PMID:19537845|PMID:19913317|PMID:20350999|PMID:20619739|PMID:21062266|PMID:21129611|PMID:21639808|PMID:22048237|PMID:22310681|PMID:22495831|PMID:22663011|PMID:22972589|PMID:23352452|PMID:23680146|PMID:24033266|PMID:24451042|PMID:25155755|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:28832562|PMID:29595366 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002265 Kidney Neoplasms ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21813464 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25735316|PMID:29610475 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002762 Ovarian Neoplasms ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:14681681|PMID:15001635|PMID:15035987|PMID:15046639|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002883 Aortic Aneurysm, Giant Congenital ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, giant congenital PMID:16372351|PMID:16523510|PMID:16804887|PMID:16825433|PMID:17551924|PMID:18039235|PMID:18413255|PMID:19206169|PMID:23875798|PMID:24033266|PMID:24283439|PMID:25741868|PMID:31474318|PMID:4386970|PMID:5771505 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002928 Colonic Neoplasms ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colonic Neoplasms PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002969 Nevus ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.V600E(human) PMID:25490715|REF_RGD_ID:11567234 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002969 Nevus no_association ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:mutation: :T1796A(human) PMID:14984580|REF_RGD_ID:11567261 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9003507 Premature Birth ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature birth PMID:16439621|PMID:16474404|PMID:17366577|PMID:17483702|PMID:17704260|PMID:18413255|PMID:19206169|PMID:20186801|PMID:24033266|PMID:25463315|PMID:25741868|PMID:28492532 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9003571 Paraproteinemias ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17603483|PMID:17785355|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24920063|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27236105|PMID:27276561|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:31277584|PMID:31336229|PMID:31779674|PMID:31891627|PMID:34476331 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9003806 PHACE Association ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PHACES association PMID:16372351|PMID:16523510|PMID:16804887|PMID:16825433|PMID:17551924|PMID:18039235|PMID:18413255|PMID:19206169|PMID:23875798|PMID:24033266|PMID:24283439|PMID:25741868|PMID:31474318|PMID:4386970|PMID:5771505 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9004118 Experimental Melanoma ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29179997|PMID:29438700 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9004547 Thyroid Neoplasms ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:12068308|PMID:12198537|PMID:12960123|PMID:14679157|PMID:15035987|PMID:16187918|PMID:19206169|PMID:21639808|PMID:22048237|PMID:22495831|PMID:22663011|PMID:22972589|PMID:24033266|PMID:24451042|PMID:25157968|PMID:26619011|PMID:28492532|PMID:28832562 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9004547 Thyroid Neoplasms treatment ISO RGD:735645 D RGD:9068941 20200609 RGD PMID:21355020|REF_RGD_ID:11567260 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 PMID:12068308|PMID:12460918|PMID:12460919|PMID:14679157|PMID:15035987|PMID:16439621|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18368129|PMID:18413255|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19913317|PMID:20186801|PMID:20301365|PMID:21483012|PMID:21871821|PMID:22495831|PMID:22649091|PMID:23093928|PMID:23833300|PMID:23907581|PMID:24033266|PMID:24918823|PMID:25157968|PMID:25463315|PMID:25741868|PMID:26582644|PMID:26619011|PMID:28492532|PMID:29084544|PMID:29533785|PMID:33683002 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9005172 Lung Neoplasms ISO RGD:735645 D RGD:7240710 20180130 OMIM 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9005446 Mandibular Neoplasms ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859340 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:12068308|PMID:12198537|PMID:12960123|PMID:14679157|PMID:15035987|PMID:16187918|PMID:21639808|PMID:22048237|PMID:22663011|PMID:22972589|PMID:24033266|PMID:25157968|PMID:26619011 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis ISO RGD:619908 D RGD:9068941 20200609 RGD associated with skin melanoma;DNA:missense mutations:cds: PMID:28787433|REF_RGD_ID:14696791 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis ISO RGD:735645 D RGD:9068941 20200609 RGD associated with skin melanoma;DNA:missense mutations:cds: PMID:28787433|REF_RGD_ID:14696791 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis ISO RGD:735646 D RGD:9068941 20200609 RGD associated with skin melanoma;DNA:missense mutations:cds: PMID:28787433|REF_RGD_ID:14696791 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:619908 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:missense mutation:cds:p.V600E (human) PMID:23010994|REF_RGD_ID:15039394 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:619908 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:missense mutations:cds:pV599E,p.V600E (human) PMID:22331825|REF_RGD_ID:18337265 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:619908 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutation:cds: PMID:27737491|REF_RGD_ID:18337264 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:619908 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutations:multiple PMID:26775732|REF_RGD_ID:11554843 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:735645 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:missense mutation:cds:p.V600E (human) PMID:23010994|REF_RGD_ID:15039394 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:735645 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:missense mutations:cds:pV599E,p.V600E (human) PMID:22331825|REF_RGD_ID:18337265 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:735645 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutation:cds: PMID:27737491|REF_RGD_ID:18337264 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:735645 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutations:multiple PMID:26775732|REF_RGD_ID:11554843 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:735646 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:missense mutation:cds:p.V600E (human) PMID:23010994|REF_RGD_ID:15039394 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:735646 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:missense mutations:cds:pV599E,p.V600E (human) PMID:22331825|REF_RGD_ID:18337265 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:735646 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutation:cds: PMID:27737491|REF_RGD_ID:18337264 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:735646 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutations:multiple PMID:26775732|REF_RGD_ID:11554843 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9007188 Liver Neoplasms ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17514646 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9007502 Brain Neoplasms ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain Neoplasms PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18368129|PMID:18398503|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9007702 Carcinogenesis ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24717435 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:735645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9008086 Developmental Disabilities ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9008443 Colorectal Neoplasms ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:12068308|PMID:12198537|PMID:12438234|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14678966|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17603483|PMID:17785355|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19735675|PMID:19913317|PMID:20008640|PMID:20141835|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24920063|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27236105|PMID:27276561|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:31277584|PMID:31336229|PMID:31779674|PMID:31891627|PMID:34476331 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:735645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:12068308|PMID:15035987|PMID:17314276|PMID:18039235|PMID:18413255|PMID:19376813|PMID:19593635|PMID:2102266|PMID:22538770|PMID:23680146|PMID:23907581|PMID:24033266|PMID:25155755|PMID:25157968|PMID:25741868|PMID:28492532 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:735645 D RGD:7240710 20210303 OMIM 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:735645 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18039235|PMID:18398503|PMID:18413255|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20395089|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21871821|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27478040|PMID:27480103|PMID:28404629|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17366577|PMID:17374713|PMID:17488796|PMID:17551924|PMID:17703371|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18398503|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20395089|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21871821|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22301711|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23312806|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23564332|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24409384|PMID:24508103|PMID:24512911|PMID:24524299|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24719372|PMID:24775816|PMID:2500657|PMID:25024077|PMID:25035421|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26242988|PMID:26472072|PMID:26619011|PMID:26633545|PMID:26678033|PMID:27146152|PMID:27322245|PMID:27404270|PMID:27478040|PMID:27480103|PMID:28404629|PMID:28492532|PMID:28687512|PMID:28854169|PMID:28891408|PMID:29925953|PMID:30986545|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 12185039 BRAF B-Raf proto-oncogene, serine/threonine kinase gene DOID:9538 multiple myeloma ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:16825433|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17603483|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24920063|PMID:2493360|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27236105|PMID:27276561|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:31277584|PMID:31336229|PMID:31779674|PMID:31891627|PMID:34476331 12185067 IFTAP intraflagellar transport associated protein gene DOID:0080600 COVID-19 ISO RGD:1603277 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12185067 IFTAP intraflagellar transport associated protein gene DOID:0080915 histiocytic sarcoma ISO RGD:1603277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Histiocytic medullary reticulosis 12185067 IFTAP intraflagellar transport associated protein gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1603277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 12185067 IFTAP intraflagellar transport associated protein gene DOID:0112253 combined cellular and humoral immune defects with granulomas ISO RGD:1603277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas PMID:11133745|PMID:24290284|PMID:25739914|PMID:28492532|PMID:8810255 12185067 IFTAP intraflagellar transport associated protein gene DOID:1059 intellectual disability ISO RGD:1603277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12185082 STAMBPL1 STAM binding protein like 1 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1603015 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:18456716|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9467011 12185082 STAMBPL1 STAM binding protein like 1 gene DOID:630 genetic disease ISO RGD:1603015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185082 STAMBPL1 STAM binding protein like 1 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1603015 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 12185102 SRRM1 serine and arginine repetitive matrix 1 gene DOID:11714 gestational diabetes ISO RGD:1322619 D RGD:9068941 20200609 RGD protein:increased glycation:placenta (human) PMID:24308201|REF_RGD_ID:11038724 12185102 SRRM1 serine and arginine repetitive matrix 1 gene DOID:630 genetic disease ISO RGD:1322619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185148 SEC24D SEC24 homolog D, COPII coat complex component gene DOID:0060438 Cole-Carpenter syndrome ISO RGD:1323325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12185148 SEC24D SEC24 homolog D, COPII coat complex component gene DOID:1826 epilepsy ISO RGD:1323325 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25558065 12185148 SEC24D SEC24 homolog D, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1323325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12185148 SEC24D SEC24 homolog D, COPII coat complex component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12185148 SEC24D SEC24 homolog D, COPII coat complex component gene DOID:9004736 Cole-Carpenter Syndrome 2 ISO RGD:1323325 D RGD:7240710 20180130 OMIM 12185148 SEC24D SEC24 homolog D, COPII coat complex component gene DOID:9004736 Cole-Carpenter Syndrome 2 ISO RGD:1323325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cole-Carpenter syndrome 2 PMID:25683121|PMID:25741868|PMID:26467156|PMID:27942778|PMID:28492532|PMID:30462379 12185184 ATP6V0D1 ATPase H+ transporting V0 subunit d1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1314615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12185184 ATP6V0D1 ATPase H+ transporting V0 subunit d1 gene DOID:630 genetic disease ISO RGD:1314615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185196 PPP1R35 protein phosphatase 1 regulatory subunit 35 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12185196 PPP1R35 protein phosphatase 1 regulatory subunit 35 gene DOID:630 genetic disease ISO RGD:1604503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185204 TRIM37 tripartite motif containing 37 gene DOID:0050436 mulibrey nanism ISO RGD:1318066 D RGD:7240710 20180130 OMIM 12185204 TRIM37 tripartite motif containing 37 gene DOID:0050436 mulibrey nanism ISO RGD:1318066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mulibrey nanism syndrome PMID:10888877|PMID:12754710|PMID:15108285|PMID:15885686|PMID:17100991|PMID:17551331|PMID:21681106|PMID:25741868|PMID:28492532|PMID:33042106 12185204 TRIM37 tripartite motif containing 37 gene DOID:0050777 Joubert syndrome ISO RGD:1318066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12185204 TRIM37 tripartite motif containing 37 gene DOID:630 genetic disease ISO RGD:1318066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12185204 TRIM37 tripartite motif containing 37 gene DOID:9005369 Hepatomegaly ISO RGD:1318066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14757854 12185204 TRIM37 tripartite motif containing 37 gene DOID:9007661 Dwarfism ISO RGD:1318066 D RGD:9068941 20200609 RGD Mulibrey Nanism, OMIM:253250 PMID:10888877|REF_RGD_ID:1599667 12185204 TRIM37 tripartite motif containing 37 gene DOID:9008267 Fibrous Dysplasia of Bone ISO RGD:1318066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14757854 12185204 TRIM37 tripartite motif containing 37 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1318066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14757854 12185256 DPH1 diphthamide biosynthesis 1 gene DOID:0060469 Miller-Dieker lissencephaly syndrome ISO RGD:1557600 D RGD:9068941 20220825 MouseDO OMIM:247200 12185256 DPH1 diphthamide biosynthesis 1 gene DOID:10908 hydrocephalus ISO RGD:1352320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:25558065|PMID:25741868|PMID:30877278 12185256 DPH1 diphthamide biosynthesis 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1352320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dandy-Walker malformation PMID:25558065|PMID:25741868|PMID:30877278 12185256 DPH1 diphthamide biosynthesis 1 gene DOID:630 genetic disease ISO RGD:1352320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:29565416|PMID:30877278|PMID:32732226 12185256 DPH1 diphthamide biosynthesis 1 gene DOID:9005766 Loucks-Innes Syndrome ISO RGD:1352320 D RGD:7240710 20190315 OMIM 12185256 DPH1 diphthamide biosynthesis 1 gene DOID:9005766 Loucks-Innes Syndrome ISO RGD:1352320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic features, and sparse hair | ClinVar Annotator: match by term: LOUCKS-INNES SYNDROME PMID:14744934|PMID:24895408|PMID:25558065|PMID:25741868|PMID:26220823|PMID:28492532|PMID:29362492|PMID:29410513|PMID:29565416|PMID:30877278|PMID:32595695|PMID:32732226 12185256 DPH1 diphthamide biosynthesis 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1352320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:25741868|PMID:30877278 12185273 XPNPEP3 X-prolyl aminopeptidase 3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1603202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12185273 XPNPEP3 X-prolyl aminopeptidase 3 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1603202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 12185273 XPNPEP3 X-prolyl aminopeptidase 3 gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1603202 D RGD:7240710 20180130 OMIM 12185273 XPNPEP3 X-prolyl aminopeptidase 3 gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1603202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis-Like Nephropathy | ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:16199547|PMID:17576681|PMID:20179356|PMID:21068128|PMID:25741868|PMID:28492532|PMID:32660933|PMID:9536098 12185273 XPNPEP3 X-prolyl aminopeptidase 3 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1603202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:15706485|PMID:24476420|PMID:28492532 12185273 XPNPEP3 X-prolyl aminopeptidase 3 gene DOID:557 kidney disease ISO RGD:1603202 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 12185273 XPNPEP3 X-prolyl aminopeptidase 3 gene DOID:630 genetic disease ISO RGD:1603202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12185294 OR2T1 olfactory receptor family 2 subfamily T member 1 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1353113 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12185294 OR2T1 olfactory receptor family 2 subfamily T member 1 gene DOID:10283 prostate cancer ISO RGD:1353113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12185294 OR2T1 olfactory receptor family 2 subfamily T member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1353113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12185294 OR2T1 olfactory receptor family 2 subfamily T member 1 gene DOID:630 genetic disease ISO RGD:1353113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185294 OR2T1 olfactory receptor family 2 subfamily T member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12185294 OR2T1 olfactory receptor family 2 subfamily T member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12185303 NUDT6 nudix hydrolase 6 gene DOID:630 genetic disease ISO RGD:735257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185303 NUDT6 nudix hydrolase 6 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:735257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:26299366|PMID:28492532 12185303 NUDT6 nudix hydrolase 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12185322 ABHD17B abhydrolase domain containing 17B, depalmitoylase gene DOID:630 genetic disease ISO RGD:1313162 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185333 CMC1 C-X9-C motif containing 1 gene DOID:630 genetic disease ISO RGD:1606956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185341 ITGA5 integrin subunit alpha 5 gene DOID:1749 squamous cell carcinoma ISO RGD:1351478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 12185341 ITGA5 integrin subunit alpha 5 gene DOID:630 genetic disease ISO RGD:1351478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185341 ITGA5 integrin subunit alpha 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:1351478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17786296 12185341 ITGA5 integrin subunit alpha 5 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1351478 D RGD:9068941 20200924 RGD mRNA:increased expression:lung PMID:25593290|REF_RGD_ID:38500244 12185341 ITGA5 integrin subunit alpha 5 gene DOID:9002211 Hyperalgesia ISO RGD:2925 D RGD:9068941 20200609 RGD epinephrine-induced PMID:14984413|REF_RGD_ID:2302389 12185341 ITGA5 integrin subunit alpha 5 gene DOID:9002211 Hyperalgesia ISO RGD:2925 D RGD:9068941 20200609 RGD knock-down using a specific monoclonal antibody or RNAi PMID:15836982|REF_RGD_ID:2302139 12185341 ITGA5 integrin subunit alpha 5 gene DOID:9004009 Reperfusion Injury ISO RGD:1351478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 12185341 ITGA5 integrin subunit alpha 5 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1351478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224397 12185341 ITGA5 integrin subunit alpha 5 gene DOID:9007402 Gliosis ISO RGD:1351478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12851778 12185375 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:0112297 spondylometaphyseal dysplasia corner fracture type ISO RGD:731594 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type PMID:25741868|PMID:28492532 12185375 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:1059 intellectual disability ISO RGD:731594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12185375 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:11372 megacolon ISO RGD:731594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12185375 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:11476 osteoporosis ISO RGD:731594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12185375 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:1184 nephrotic syndrome ISO RGD:731594 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:29127259 12185375 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:1432 blindness ISO RGD:731594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15114530 12185375 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:4448 macular degeneration ISO RGD:731594 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:15114530|PMID:25741868|PMID:28492532|PMID:28991257|PMID:32557644 12185375 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:630 genetic disease ISO RGD:731594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12185375 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:653 purine-pyrimidine metabolic disorder susceptibility ISO RGD:731594 D RGD:9068941 20200609 RGD DNA:frameshift,point mutation:A1277G;AICA-RIBOSIDURIA,OMIM:608688 PMID:15114530|REF_RGD_ID:1599355 12185375 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:7148 rheumatoid arthritis ISO RGD:731594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19193698 12185375 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:784 chronic kidney disease ISO RGD:731594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 12185375 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9002457 Experimental Arthritis ISO RGD:70879 D RGD:9068941 20200609 RGD PMID:17408934|REF_RGD_ID:5144054 12185375 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12185375 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9005133 AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency ISO RGD:731594 D RGD:7240710 20180130 OMIM 12185375 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9005133 AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency ISO RGD:731594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AICAR transformylase/IMP cyclohydrolase deficiency | ClinVar Annotator: match by term: ATIC DEFICIENCY PMID:15114530|PMID:25741868|PMID:28492532|PMID:28991257|PMID:32557644 12185375 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9005563 Glomerulopathy with Giant Fibrillar Deposits ISO RGD:731594 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 PMID:25741868|PMID:28492532 12185375 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16947783 12185375 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9008952 Breast Cancer, Familial ISO RGD:731594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:28492532 12185375 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:936 brain disease ISO RGD:731594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868 12185395 CUL5 cullin 5 gene DOID:1059 intellectual disability ISO RGD:733947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12185395 CUL5 cullin 5 gene DOID:12704 ataxia telangiectasia ISO RGD:733947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12185395 CUL5 cullin 5 gene DOID:630 genetic disease ISO RGD:733947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185395 CUL5 cullin 5 gene DOID:9000998 Brain Injuries ISO RGD:621742 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cerebral cortex, hippocampus PMID:17010517|REF_RGD_ID:2301432 12185395 CUL5 cullin 5 gene DOID:9001708 Hemorrhagic Shock ISO RGD:621742 D RGD:9068941 20200609 RGD mRNA:altered expression:brain PMID:12635525|REF_RGD_ID:2301433 12185395 CUL5 cullin 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12185395 CUL5 cullin 5 gene DOID:9008939 Breast Neoplasms ISO RGD:733947 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20949323 12185421 ACHE acetylcholinesterase gene DOID:0060041 autism spectrum disorder ISO RGD:735878 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12185421 ACHE acetylcholinesterase gene DOID:10487 Hirschsprung's disease ISO RGD:735878 D RGD:9068941 20200609 RGD PMID:21991983|REF_RGD_ID:5509847 12185421 ACHE acetylcholinesterase gene DOID:10652 Alzheimer's disease ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22944069|PMID:23047022 12185421 ACHE acetylcholinesterase gene DOID:10652 Alzheimer's disease ISO RGD:735878 D RGD:9068941 20200609 RGD PMID:16581404|REF_RGD_ID:5509844 12185421 ACHE acetylcholinesterase gene DOID:11054 urinary bladder cancer ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29644616 12185421 ACHE acetylcholinesterase gene DOID:12858 Huntington's disease ISO RGD:735878 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:2953866|REF_RGD_ID:5688127 12185421 ACHE acetylcholinesterase gene DOID:14330 Parkinson's disease ISO RGD:735878 D RGD:9068941 20200609 RGD PMID:19474411|REF_RGD_ID:5509846 12185421 ACHE acetylcholinesterase gene DOID:1826 epilepsy ISO RGD:735878 D RGD:9068941 20200609 RGD PMID:7634486|REF_RGD_ID:5688133 12185421 ACHE acetylcholinesterase gene DOID:2297 leptospirosis ISO RGD:69313 D RGD:9068941 20200609 RGD PMID:21921108|REF_RGD_ID:5688128 12185421 ACHE acetylcholinesterase gene DOID:2355 anemia ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31170385 12185421 ACHE acetylcholinesterase gene DOID:2377 multiple sclerosis ISO RGD:735878 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:2953866|REF_RGD_ID:5688127 12185421 ACHE acetylcholinesterase gene DOID:437 myasthenia gravis ISO RGD:735878 D RGD:9068941 20200609 RGD PMID:17986328|REF_RGD_ID:5509842 12185421 ACHE acetylcholinesterase gene DOID:4450 renal cell carcinoma ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18482720 12185421 ACHE acetylcholinesterase gene DOID:480 movement disease ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19628251 12185421 ACHE acetylcholinesterase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12185421 ACHE acetylcholinesterase gene DOID:6088 acute stress disorder ISO RGD:69313 D RGD:9068941 20200609 RGD PMID:20645790|REF_RGD_ID:5509849 12185421 ACHE acetylcholinesterase gene DOID:630 genetic disease ISO RGD:735878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185421 ACHE acetylcholinesterase gene DOID:670 amphetamine abuse ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16470869 12185421 ACHE acetylcholinesterase gene DOID:863 nervous system disease ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22240983 12185421 ACHE acetylcholinesterase gene DOID:8927 learning disability ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18533140 12185421 ACHE acetylcholinesterase gene DOID:9000046 Poisoning ISO RGD:69313 D RGD:9068941 20200609 RGD PMID:19453088|REF_RGD_ID:5688054 12185421 ACHE acetylcholinesterase gene DOID:9000046 Poisoning ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17098105 12185421 ACHE acetylcholinesterase gene DOID:9000495 Tremor ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27083141 12185421 ACHE acetylcholinesterase gene DOID:9001191 Cadmium Poisoning treatment ISO RGD:69313 D RGD:9068941 20220617 RGD PMID:27491636|REF_RGD_ID:152995409 12185421 ACHE acetylcholinesterase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16496349 12185421 ACHE acetylcholinesterase gene DOID:9002304 Prostatic Neoplasms ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20356562 12185421 ACHE acetylcholinesterase gene DOID:9005292 Organophosphate Poisoning ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:23000449|PMID:3669600|PMID:8359835 12185421 ACHE acetylcholinesterase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69313 D RGD:9068941 20200609 RGD PMID:1385785|PMID:19296211|REF_RGD_ID:2312432|REF_RGD_ID:2312437 12185421 ACHE acetylcholinesterase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69313 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:19303406|REF_RGD_ID:2312430 12185421 ACHE acetylcholinesterase gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:69313 D RGD:9068941 20211015 RGD PMID:19347982|REF_RGD_ID:150517552 12185421 ACHE acetylcholinesterase gene DOID:9005930 Endotoxemia ISO RGD:735878 D RGD:9068941 20200609 RGD PMID:17657467|REF_RGD_ID:5688055 12185421 ACHE acetylcholinesterase gene DOID:9006257 Growth Disorders ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22898132 12185421 ACHE acetylcholinesterase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27083141 12185421 ACHE acetylcholinesterase gene DOID:9007023 Prenatal Injuries ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14657522 12185421 ACHE acetylcholinesterase gene DOID:9007096 Stroke disease_progression ISO RGD:735878 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:20464061|REF_RGD_ID:5688131 12185421 ACHE acetylcholinesterase gene DOID:9008023 Memory Disorders ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18599028 12185421 ACHE acetylcholinesterase gene DOID:9008443 Colorectal Neoplasms ISO RGD:735878 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31004929 12185421 ACHE acetylcholinesterase gene DOID:9008939 Breast Neoplasms ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23063927 12185421 ACHE acetylcholinesterase gene DOID:9120 amyloidosis ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23047022 12185421 ACHE acetylcholinesterase gene DOID:9470 bacterial meningitis ISO RGD:735878 D RGD:9068941 20200609 RGD PMID:21303225|REF_RGD_ID:5688130 12185421 ACHE acetylcholinesterase gene DOID:9744 type 1 diabetes mellitus ISO RGD:735878 D RGD:9068941 20200609 RGD PMID:2658981|REF_RGD_ID:2312438 12185421 ACHE acetylcholinesterase gene DOID:9884 muscular dystrophy ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22906800 12185421 ACHE acetylcholinesterase gene DOID:9970 obesity ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 12185434 PTPRC protein tyrosine phosphatase receptor type C gene DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ISO RGD:736371 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive PMID:11101853|PMID:11528386|PMID:11548742|PMID:11841494|PMID:12373647|PMID:15372250|PMID:16505159|PMID:19111528|PMID:21507955|PMID:28492532|PMID:7621884 12185434 PTPRC protein tyrosine phosphatase receptor type C gene DOID:1540 parathyroid carcinoma ISO RGD:736371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12185434 PTPRC protein tyrosine phosphatase receptor type C gene DOID:2377 multiple sclerosis ISO RGD:736371 D RGD:9068941 20200609 RGD DNA:snp:exon:c.77C>G (human) PMID:11101853|REF_RGD_ID:1358566 12185434 PTPRC protein tyrosine phosphatase receptor type C gene DOID:5679 retinal disease ISO RGD:736371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19324842 12185434 PTPRC protein tyrosine phosphatase receptor type C gene DOID:627 severe combined immunodeficiency ISO RGD:736371 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 12185434 PTPRC protein tyrosine phosphatase receptor type C gene DOID:630 genetic disease ISO RGD:736371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12185434 PTPRC protein tyrosine phosphatase receptor type C gene DOID:7148 rheumatoid arthritis ISO RGD:736371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 12185434 PTPRC protein tyrosine phosphatase receptor type C gene DOID:9000795 Immunodeficiency 104 ISO RGD:736371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 104 PMID:10700239|PMID:11101853|PMID:11528386|PMID:11548742|PMID:11841494|PMID:12373647|PMID:15372250|PMID:16199547|PMID:16505159|PMID:17576681|PMID:19111528|PMID:21507955|PMID:25741868|PMID:26915675|PMID:28492532|PMID:31848144|PMID:7621884|PMID:9536098 12185434 PTPRC protein tyrosine phosphatase receptor type C gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12185434 PTPRC protein tyrosine phosphatase receptor type C gene DOID:9002304 Prostatic Neoplasms ISO RGD:736371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12185434 PTPRC protein tyrosine phosphatase receptor type C gene DOID:9002514 Neointima treatment ISO RGD:3451 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:12377736|REF_RGD_ID:729766 12185434 PTPRC protein tyrosine phosphatase receptor type C gene DOID:9005579 Immunodeficiency 105 ISO RGD:736371 D RGD:7240710 20220720 OMIM 12185434 PTPRC protein tyrosine phosphatase receptor type C gene DOID:9005579 Immunodeficiency 105 ISO RGD:736371 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Immunodeficiency 105 PMID:10700239|PMID:11101853|PMID:11145714|PMID:11528386|PMID:11548742|PMID:11841494|PMID:12373647|PMID:15372250|PMID:16505159|PMID:19111528|PMID:21507955|PMID:22689986|PMID:25741868|PMID:26915675|PMID:28492532|PMID:7621884|PMID:9068311 12185434 PTPRC protein tyrosine phosphatase receptor type C gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:736371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 12185434 PTPRC protein tyrosine phosphatase receptor type C gene DOID:9074 systemic lupus erythematosus ISO RGD:11196 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12185434 PTPRC protein tyrosine phosphatase receptor type C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12185478 LCN12 lipocalin 12 gene DOID:0050777 Joubert syndrome ISO RGD:1350830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12185478 LCN12 lipocalin 12 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1350830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12185478 LCN12 lipocalin 12 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1350830 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12185478 LCN12 lipocalin 12 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1350830 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12185478 LCN12 lipocalin 12 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12185478 LCN12 lipocalin 12 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1350830 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12185478 LCN12 lipocalin 12 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1350830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12185478 LCN12 lipocalin 12 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1350830 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12185478 LCN12 lipocalin 12 gene DOID:0081097 Rafiq syndrome ISO RGD:1350830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12185478 LCN12 lipocalin 12 gene DOID:1826 epilepsy ISO RGD:1350830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12185478 LCN12 lipocalin 12 gene DOID:3652 Leigh disease ISO RGD:1350830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12185478 LCN12 lipocalin 12 gene DOID:630 genetic disease ISO RGD:1350830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185478 LCN12 lipocalin 12 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1350830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12185497 TREX2 three prime repair exonuclease 2 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354135 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12185497 TREX2 three prime repair exonuclease 2 gene DOID:0050476 Barth syndrome ISO RGD:1354135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12185497 TREX2 three prime repair exonuclease 2 gene DOID:0050800 creatine transporter deficiency ISO RGD:1354135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12185497 TREX2 three prime repair exonuclease 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12185497 TREX2 three prime repair exonuclease 2 gene DOID:0112003 immunodeficiency 33 ISO RGD:1354135 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12185497 TREX2 three prime repair exonuclease 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:1354135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12185497 TREX2 three prime repair exonuclease 2 gene DOID:1059 intellectual disability ISO RGD:1354135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12185497 TREX2 three prime repair exonuclease 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1354135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12185497 TREX2 three prime repair exonuclease 2 gene DOID:12849 autistic disorder ISO RGD:1354135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12185497 TREX2 three prime repair exonuclease 2 gene DOID:13628 favism ISO RGD:1354135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12185497 TREX2 three prime repair exonuclease 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1354135 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12185497 TREX2 three prime repair exonuclease 2 gene DOID:607 paraplegia ISO RGD:1354135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12185497 TREX2 three prime repair exonuclease 2 gene DOID:630 genetic disease ISO RGD:1354135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185497 TREX2 three prime repair exonuclease 2 gene DOID:9002720 Splenomegaly ISO RGD:1354135 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12185497 TREX2 three prime repair exonuclease 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1562245 D RGD:9068941 20200609 RGD PMID:20973890|REF_RGD_ID:5490977 12185506 GCK glucokinase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:735697 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10426385|PMID:10525657|PMID:10694920|PMID:10753050|PMID:11508276|PMID:12442280|PMID:12627330|PMID:12955723|PMID:14517946|PMID:14578306|PMID:1464666|PMID:1502186|PMID:15277402|PMID:15305805|PMID:16602010|PMID:16731834|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17389332|PMID:17573900|PMID:18271687|PMID:18414213|PMID:18481947|PMID:19002431|PMID:19790256|PMID:19903754|PMID:20337973|PMID:21348868|PMID:21518409|PMID:21521320|PMID:21831042|PMID:21921030|PMID:22028181|PMID:22335469|PMID:22389783|PMID:22493702|PMID:22540858|PMID:22611063|PMID:22761713|PMID:22820548|PMID:23433541|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24568320|PMID:24578721|PMID:24918535|PMID:25015100|PMID:25306193|PMID:25414397|PMID:25525159|PMID:25555642|PMID:25741868|PMID:26467025|PMID:27080136|PMID:27167055|PMID:27269892|PMID:27935851|PMID:28012402|PMID:28492532|PMID:28842611|PMID:29284910|PMID:29510678|PMID:30086370|PMID:30257192|PMID:30592380|PMID:31197960|PMID:31957151|PMID:32074423|PMID:32375122|PMID:33072637|PMID:33129248|PMID:7553875|PMID:8068341|PMID:8168652|PMID:8446612|PMID:9049484|PMID:9867845 12185506 GCK glucokinase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:735697 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10694920|PMID:10753050|PMID:10754480|PMID:11315851|PMID:11372010|PMID:11508276|PMID:11553210|PMID:11772903|PMID:11942313|PMID:12442280|PMID:12627330|PMID:12955723|PMID:1354782|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1464666|PMID:1502186|PMID:15102714|PMID:15277402|PMID:15305805|PMID:15448103|PMID:15667334|PMID:15752705|PMID:15788789|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16059790|PMID:16444761|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16963153|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17204055|PMID:17389332|PMID:17573900|PMID:17937063|PMID:18056790|PMID:18248649|PMID:18271687|PMID:18298419|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18411240|PMID:18414213|PMID:18481947|PMID:19002431|PMID:19069349|PMID:19187021|PMID:19228875|PMID:19309449|PMID:19339519|PMID:19358091|PMID:19410318|PMID:19551638|PMID:19564454|PMID:19790256|PMID:19903754|PMID:20132997|PMID:20301620|PMID:20337973|PMID:20458967|PMID:21104275|PMID:21348868|PMID:21395678|PMID:21437567|PMID:21518409|PMID:21521320|PMID:21569204|PMID:21720051|PMID:21831042|PMID:21921030|PMID:21978167|PMID:22028181|PMID:22035297|PMID:22060211|PMID:22101819|PMID:22291974|PMID:22298776|PMID:22335469|PMID:22341299|PMID:22389783|PMID:22493702|PMID:22540858|PMID:22611063|PMID:22761713|PMID:22820548|PMID:23009393|PMID:23085272|PMID:23295292|PMID:23352578|PMID:23433541|PMID:23506826|PMID:23771172|PMID:23771925|PMID:23957911|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24430320|PMID:24568320|PMID:24578721|PMID:24677712|PMID:24728127|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25082184|PMID:25174781|PMID:25203462|PMID:25306193|PMID:25414397|PMID:25494859|PMID:25525159|PMID:25555642|PMID:25741868|PMID:25755231|PMID:25850297|PMID:26123671|PMID:26467025|PMID:26552609|PMID:26587058|PMID:27080136|PMID:27106716|PMID:27167055|PMID:27256595|PMID:27256596|PMID:27269892|PMID:27935851|PMID:28012402|PMID:28170077|PMID:28323911|PMID:28371533|PMID:28492532|PMID:28512030|PMID:28726111|PMID:28842611|PMID:29056535|PMID:29207974|PMID:29284910|PMID:29417725|PMID:29424410|PMID:29510678|PMID:29777474|PMID:29927023|PMID:29944009|PMID:30086370|PMID:30155490|PMID:30191644|PMID:30245511|PMID:30257192|PMID:30259503|PMID:30447144|PMID:30590153|PMID:30592380|PMID:30663027|PMID:31197960|PMID:31216263|PMID:31638168|PMID:31704690|PMID:31957151|PMID:32074423|PMID:32375122|PMID:33072637|PMID:33129248|PMID:33477506|PMID:34373539|PMID:34440516|PMID:34746319|PMID:35592779|PMID:36257325|PMID:7553875|PMID:7555485|PMID:7619052|PMID:8068341|PMID:8094163|PMID:8094164|PMID:8132752|PMID:8168652|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8897004|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9662401|PMID:9867845 12185506 GCK glucokinase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:735697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10694920|PMID:10753050|PMID:10754480|PMID:10868935|PMID:11315851|PMID:11372010|PMID:11393552|PMID:11508276|PMID:11553210|PMID:11772903|PMID:11942313|PMID:12442280|PMID:12627330|PMID:12955723|PMID:1354782|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1464666|PMID:1502186|PMID:15102714|PMID:15277402|PMID:15305805|PMID:15448103|PMID:15667334|PMID:15752705|PMID:15788789|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16059790|PMID:16199547|PMID:16444761|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16963153|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17204055|PMID:17389332|PMID:17573900|PMID:17576681|PMID:17937063|PMID:18056790|PMID:18248649|PMID:18271687|PMID:18298419|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18411240|PMID:18414213|PMID:18481947|PMID:19002431|PMID:19069349|PMID:19187021|PMID:19228875|PMID:19309449|PMID:19339519|PMID:19358091|PMID:19410318|PMID:19551638|PMID:19564454|PMID:19790256|PMID:19903754|PMID:20132997|PMID:20301620|PMID:20337973|PMID:20458967|PMID:21104275|PMID:21348868|PMID:21395678|PMID:21420961|PMID:21437567|PMID:21518409|PMID:21521320|PMID:21569204|PMID:21720051|PMID:21831042|PMID:21921030|PMID:21978167|PMID:22028181|PMID:22035297|PMID:22060211|PMID:22101819|PMID:22291974|PMID:22298776|PMID:22335469|PMID:22341299|PMID:22389783|PMID:22493702|PMID:22540858|PMID:22611063|PMID:22761713|PMID:22773699|PMID:22808921|PMID:22820548|PMID:23009393|PMID:23085272|PMID:23295292|PMID:23352578|PMID:23433541|PMID:23506826|PMID:23771172|PMID:23771925|PMID:23957911|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24430320|PMID:24568320|PMID:24578721|PMID:24677712|PMID:24728127|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25082184|PMID:25174781|PMID:25203462|PMID:25306193|PMID:25414397|PMID:25494859|PMID:25525159|PMID:25555642|PMID:25741868|PMID:25755231|PMID:25850297|PMID:25935773|PMID:26123671|PMID:26208450|PMID:26226118|PMID:26467025|PMID:26552609|PMID:26587058|PMID:26669242|PMID:27059371|PMID:27080136|PMID:27106716|PMID:27256595|PMID:27256596|PMID:27269892|PMID:27935851|PMID:28012402|PMID:28170077|PMID:28323911|PMID:28371533|PMID:28492532|PMID:28512030|PMID:28663157|PMID:28726111|PMID:28842611|PMID:29056535|PMID:29207974|PMID:29284910|PMID:29329106|PMID:29417725|PMID:29424410|PMID:29510678|PMID:29777474|PMID:29927023|PMID:29944009|PMID:30086370|PMID:30155490|PMID:30191644|PMID:30245511|PMID:30257192|PMID:30259503|PMID:30447144|PMID:30590153|PMID:30592380|PMID:30608898|PMID:30656436|PMID:30663027|PMID:31063852|PMID:31197960|PMID:31216263|PMID:31264968|PMID:31576961|PMID:31638168|PMID:31704690|PMID:31957151|PMID:32041611|PMID:32074423|PMID:32375122|PMID:32533152|PMID:32741144|PMID:33046911|PMID:33072637|PMID:33129248|PMID:33242514|PMID:33324081|PMID:33477506|PMID:33565752|PMID:34108472|PMID:34373539|PMID:34393998|PMID:34440516|PMID:34532767|PMID:34746319|PMID:34789499|PMID:35592779|PMID:36257325|PMID:7553875|PMID:7555485|PMID:7619052|PMID:8068341|PMID:8094163|PMID:8094164|PMID:8132752|PMID:8168652|PMID:8325892|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8897004|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9536098|PMID:9662401|PMID:9867845 12185506 GCK glucokinase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:735697 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10694920|PMID:10753050|PMID:10754480|PMID:10868935|PMID:11106831|PMID:11315851|PMID:11372010|PMID:11393552|PMID:11508276|PMID:11553210|PMID:11772903|PMID:11942313|PMID:12442280|PMID:12627330|PMID:12955723|PMID:1354782|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1464666|PMID:1502186|PMID:15102714|PMID:15277402|PMID:15305805|PMID:15448103|PMID:15667334|PMID:15752705|PMID:15788789|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16059790|PMID:16199547|PMID:16444761|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16963153|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17204055|PMID:17389332|PMID:17573900|PMID:17576681|PMID:17937063|PMID:18056790|PMID:18248649|PMID:18271687|PMID:18298419|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18411240|PMID:18414213|PMID:18481947|PMID:19002431|PMID:19069349|PMID:19187021|PMID:19228875|PMID:19309449|PMID:19339519|PMID:19358091|PMID:19410318|PMID:19551638|PMID:19564454|PMID:19790256|PMID:19903754|PMID:20132997|PMID:20301620|PMID:20337973|PMID:20458967|PMID:21104275|PMID:21348868|PMID:21395678|PMID:21420961|PMID:21437567|PMID:21518409|PMID:21521320|PMID:21569204|PMID:21720051|PMID:21831042|PMID:21921030|PMID:21978167|PMID:22028181|PMID:22035297|PMID:22060211|PMID:22101819|PMID:22291974|PMID:22298776|PMID:22335469|PMID:22341299|PMID:22389783|PMID:22493702|PMID:22540858|PMID:22611063|PMID:22761713|PMID:22773699|PMID:22808921|PMID:22820548|PMID:23009393|PMID:23085272|PMID:23295292|PMID:23352578|PMID:23433541|PMID:23506826|PMID:23771172|PMID:23771925|PMID:23957911|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24430320|PMID:24549415|PMID:24568320|PMID:24578721|PMID:24677712|PMID:24728127|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25082184|PMID:25174781|PMID:25203462|PMID:25306193|PMID:25414397|PMID:25494859|PMID:25525159|PMID:25555642|PMID:25741868|PMID:25755231|PMID:25850297|PMID:25935773|PMID:26123671|PMID:26208450|PMID:26226118|PMID:26467025|PMID:26552609|PMID:26587058|PMID:26669242|PMID:27059371|PMID:27080136|PMID:27106716|PMID:27256595|PMID:27256596|PMID:27269892|PMID:27935851|PMID:28012402|PMID:28170077|PMID:28323911|PMID:28371533|PMID:28492532|PMID:28512030|PMID:28663157|PMID:28726111|PMID:28842611|PMID:29056535|PMID:29207974|PMID:29284910|PMID:29329106|PMID:29417725|PMID:29424410|PMID:29510678|PMID:29777474|PMID:29927023|PMID:29944009|PMID:30086370|PMID:30155490|PMID:30191644|PMID:30245511|PMID:30257192|PMID:30259503|PMID:30386132|PMID:30447144|PMID:30590153|PMID:30592380|PMID:30608898|PMID:30656436|PMID:30663027|PMID:30977832|PMID:31063852|PMID:31197960|PMID:31216263|PMID:31264968|PMID:31576961|PMID:31638168|PMID:31704690|PMID:31957151|PMID:32041611|PMID:32074423|PMID:32375122|PMID:32533152|PMID:32741144|PMID:33046911|PMID:33072637|PMID:33129248|PMID:33242514|PMID:33324081|PMID:33477506|PMID:33565752|PMID:34108472|PMID:34373539|PMID:34393998|PMID:34440516|PMID:34532767|PMID:34662886|PMID:34746319|PMID:34789499|PMID:35176401|PMID:35592779|PMID:35737141|PMID:36208030|PMID:36257325|PMID:36400171|PMID:7553875|PMID:7555485|PMID:7619052|PMID:8068341|PMID:8094163|PMID:8094164|PMID:8132752|PMID:8168652|PMID:8325892|PMID:8349034|PMID:8376578|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8897004|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9536098|PMID:9662401|PMID:9867845 12185506 GCK glucokinase gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:735697 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10447526|PMID:11315850|PMID:11315851|PMID:11942313|PMID:12442280|PMID:12627330|PMID:14517946|PMID:14517956|PMID:15305805|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16963153|PMID:16965331|PMID:17573900|PMID:17576681|PMID:18271687|PMID:19790256|PMID:20132997|PMID:21604084|PMID:22493702|PMID:22611063|PMID:24097065|PMID:24518839|PMID:24578721|PMID:24728127|PMID:25015100|PMID:25741868|PMID:25850297|PMID:26467025|PMID:27269892|PMID:28492532|PMID:29510678|PMID:30257192|PMID:31197960|PMID:32375122|PMID:33072637|PMID:33129248|PMID:7555485|PMID:8068341|PMID:8349034|PMID:8433729|PMID:8454109|PMID:9536098 12185506 GCK glucokinase gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:735697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10447526|PMID:11315850|PMID:11315851|PMID:11942313|PMID:12442280|PMID:12627330|PMID:14517946|PMID:14517956|PMID:15305805|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16963153|PMID:16965331|PMID:17573900|PMID:17576681|PMID:18271687|PMID:19790256|PMID:20132997|PMID:21604084|PMID:22493702|PMID:22611063|PMID:24097065|PMID:24518839|PMID:24578721|PMID:24728127|PMID:25015100|PMID:25741868|PMID:25850297|PMID:26467025|PMID:27269892|PMID:27913849|PMID:28492532|PMID:29510678|PMID:30257192|PMID:31197960|PMID:32375122|PMID:33072637|PMID:33129248|PMID:7555485|PMID:8068341|PMID:8349034|PMID:8433729|PMID:8454109|PMID:9536098 12185506 GCK glucokinase gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:735697 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:10426385|PMID:10447526|PMID:10525657|PMID:10754480|PMID:11315850|PMID:11315851|PMID:11372010|PMID:11508276|PMID:11942313|PMID:12442280|PMID:12627330|PMID:14517946|PMID:14517956|PMID:15102714|PMID:15305805|PMID:15644838|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16602010|PMID:16731834|PMID:16963153|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17573900|PMID:17576681|PMID:18056790|PMID:18271687|PMID:18382660|PMID:18397317|PMID:18399931|PMID:18414213|PMID:19790256|PMID:19884385|PMID:20132997|PMID:20337973|PMID:21395678|PMID:21437567|PMID:21604084|PMID:22291974|PMID:22335469|PMID:22389783|PMID:22493702|PMID:22611063|PMID:23624530|PMID:23771172|PMID:23778137|PMID:24033266|PMID:24097065|PMID:24518839|PMID:24578721|PMID:24728127|PMID:25015100|PMID:25082184|PMID:25306193|PMID:25414397|PMID:25494859|PMID:25555642|PMID:25741868|PMID:25850297|PMID:26123671|PMID:26467025|PMID:27080136|PMID:27188453|PMID:27634015|PMID:27913849|PMID:28247534|PMID:28323911|PMID:28492532|PMID:28726111|PMID:29510678|PMID:31957151|PMID:33072637|PMID:7555485|PMID:8068341|PMID:8132752|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8454109|PMID:9049484|PMID:9536098 12185506 GCK glucokinase gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:735697 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:10426385|PMID:10447526|PMID:10525657|PMID:10754480|PMID:11315850|PMID:11315851|PMID:11372010|PMID:11508276|PMID:11942313|PMID:12442280|PMID:12627330|PMID:14517946|PMID:14517956|PMID:14578306|PMID:15102714|PMID:15305805|PMID:15644838|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16602010|PMID:16731834|PMID:16963153|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17573900|PMID:17576681|PMID:18056790|PMID:18271687|PMID:18397317|PMID:18399931|PMID:18414213|PMID:19790256|PMID:19884385|PMID:20132997|PMID:20301620|PMID:20337973|PMID:21395678|PMID:21437567|PMID:21604084|PMID:21720051|PMID:22291974|PMID:22335469|PMID:22389783|PMID:22493702|PMID:22611063|PMID:22761713|PMID:23624530|PMID:23771172|PMID:23778137|PMID:24033266|PMID:24097065|PMID:24518839|PMID:24578721|PMID:24728127|PMID:25015100|PMID:25082184|PMID:25306193|PMID:25414397|PMID:25494859|PMID:25555642|PMID:25741868|PMID:25850297|PMID:26123671|PMID:26467025|PMID:27080136|PMID:27188453|PMID:27269892|PMID:27634015|PMID:27913849|PMID:28247534|PMID:28323911|PMID:28492532|PMID:28726111|PMID:29510678|PMID:30257192|PMID:31197960|PMID:31957151|PMID:32375122|PMID:33072637|PMID:33129248|PMID:36257325|PMID:7555485|PMID:8068341|PMID:8132752|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8454109|PMID:9049484|PMID:9536098 12185506 GCK glucokinase gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:735697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:10447526|PMID:10525657|PMID:10754480|PMID:11315850|PMID:11315851|PMID:11372010|PMID:11508276|PMID:11942313|PMID:12442280|PMID:12627330|PMID:14517946|PMID:14517956|PMID:14578306|PMID:15102714|PMID:15305805|PMID:15644838|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16731834|PMID:16963153|PMID:16965331|PMID:17186219|PMID:17573900|PMID:17576681|PMID:18056790|PMID:18271687|PMID:18397317|PMID:18399931|PMID:19790256|PMID:19884385|PMID:20132997|PMID:20301620|PMID:20337973|PMID:21395678|PMID:21437567|PMID:21604084|PMID:21720051|PMID:21831042|PMID:22291974|PMID:22493702|PMID:22611063|PMID:22761713|PMID:23624530|PMID:23771172|PMID:23778137|PMID:24097065|PMID:24518839|PMID:24578721|PMID:24728127|PMID:25015100|PMID:25082184|PMID:25306193|PMID:25494859|PMID:25555642|PMID:25741868|PMID:25850297|PMID:26123671|PMID:26467025|PMID:27188453|PMID:27269892|PMID:27634015|PMID:27913849|PMID:28247534|PMID:28323911|PMID:28331372|PMID:28492532|PMID:28726111|PMID:29510678|PMID:30191644|PMID:30257192|PMID:31197960|PMID:31216263|PMID:31957151|PMID:32375122|PMID:33072637|PMID:33129248|PMID:36257325|PMID:7555485|PMID:8068341|PMID:8132752|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8454109|PMID:9536098 12185506 GCK glucokinase gene DOID:0070216 familial hyperinsulinemic hypoglycemia 3 ISO RGD:735697 D RGD:7240710 20180130 OMIM 12185506 GCK glucokinase gene DOID:0070216 familial hyperinsulinemic hypoglycemia 3 ISO RGD:735697 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperinsulinism due to glucokinase deficiency PMID:10447526|PMID:10455021|PMID:10525657|PMID:11315850|PMID:11315851|PMID:11372010|PMID:11553210|PMID:11916951|PMID:11942313|PMID:12442280|PMID:12627330|PMID:14517946|PMID:14517956|PMID:1502186|PMID:15277402|PMID:15305805|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16963153|PMID:16965331|PMID:17082186|PMID:17573900|PMID:17576681|PMID:17937063|PMID:18271687|PMID:19146401|PMID:19790256|PMID:20132997|PMID:20301620|PMID:20375417|PMID:21569204|PMID:21604084|PMID:21720051|PMID:22335469|PMID:22493702|PMID:22611063|PMID:24097065|PMID:24323243|PMID:24518839|PMID:24578721|PMID:24728127|PMID:24735133|PMID:25015100|PMID:25555642|PMID:25741868|PMID:25850297|PMID:26467025|PMID:27269892|PMID:27913849|PMID:28492532|PMID:29056535|PMID:29510678|PMID:30257192|PMID:31094068|PMID:31197960|PMID:31638168|PMID:32375122|PMID:33072637|PMID:33129248|PMID:36257325|PMID:7555485|PMID:8068341|PMID:8325892|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8495817|PMID:9049484|PMID:9435328|PMID:9469993|PMID:9536098 12185506 GCK glucokinase gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:735697 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10753050|PMID:11315828|PMID:11372010|PMID:11508276|PMID:11553210|PMID:11942313|PMID:12442280|PMID:12627330|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1502186|PMID:15305805|PMID:15841481|PMID:15928245|PMID:16059790|PMID:16173921|PMID:16444761|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17389332|PMID:17573900|PMID:17937063|PMID:18271687|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18411240|PMID:19002431|PMID:19309449|PMID:19515026|PMID:19564454|PMID:19790256|PMID:20301620|PMID:20337973|PMID:21104275|PMID:21348868|PMID:21569204|PMID:21604084|PMID:21720051|PMID:21831042|PMID:21921030|PMID:22028181|PMID:22060211|PMID:22335469|PMID:22389783|PMID:22493702|PMID:22611063|PMID:22773699|PMID:22820548|PMID:23295287|PMID:23295292|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24430320|PMID:24518839|PMID:24568320|PMID:24578721|PMID:24660669|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25306193|PMID:25414397|PMID:25555642|PMID:25741868|PMID:26467025|PMID:26552609|PMID:27080136|PMID:27185633|PMID:27256595|PMID:27269892|PMID:27271189|PMID:27913849|PMID:28012402|PMID:28170077|PMID:28492532|PMID:28663157|PMID:28701371|PMID:28726111|PMID:29056535|PMID:29207974|PMID:29510678|PMID:29777474|PMID:29927023|PMID:30191644|PMID:30257192|PMID:30259503|PMID:30590153|PMID:30592380|PMID:30656436|PMID:31063852|PMID:31197960|PMID:31216263|PMID:31576961|PMID:31638168|PMID:31957151|PMID:32017842|PMID:32074423|PMID:32375122|PMID:32533152|PMID:32741144|PMID:33046911|PMID:33129248|PMID:33477506|PMID:34023340|PMID:34393998|PMID:34440516|PMID:36257325|PMID:7553875|PMID:8094163|PMID:8094164|PMID:8168652|PMID:8325892|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8495817|PMID:8897004|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9867845 12185506 GCK glucokinase gene DOID:0111100 maturity-onset diabetes of the young type 2 ISO RGD:735697 D RGD:7240710 20180130 OMIM 12185506 GCK glucokinase gene DOID:0111100 maturity-onset diabetes of the young type 2 ISO RGD:735697 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 2 PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10694920|PMID:10753050|PMID:10754480|PMID:11079754|PMID:11106831|PMID:11315828|PMID:11315850|PMID:11315851|PMID:11372010|PMID:11393552|PMID:11508276|PMID:11553210|PMID:11692182|PMID:11772903|PMID:11942313|PMID:12050210|PMID:12442280|PMID:12627330|PMID:12955723|PMID:1303265|PMID:1349989|PMID:1354782|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1464666|PMID:1502186|PMID:15102714|PMID:15305805|PMID:15448103|PMID:1545870|PMID:15580558|PMID:15657605|PMID:15667334|PMID:15677479|PMID:1570017|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16173921|PMID:16199547|PMID:16444761|PMID:16502298|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16938872|PMID:16963153|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17204055|PMID:17353190|PMID:17389332|PMID:17573900|PMID:17576681|PMID:17937063|PMID:18056790|PMID:18248649|PMID:18271687|PMID:18298419|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18407139|PMID:18411240|PMID:18414213|PMID:18481947|PMID:19002431|PMID:19069349|PMID:19187021|PMID:19309449|PMID:19339519|PMID:19358091|PMID:19564454|PMID:19790256|PMID:19903754|PMID:20005544|PMID:20132997|PMID:20301620|PMID:20337973|PMID:20458967|PMID:21104275|PMID:21348868|PMID:21395678|PMID:21420961|PMID:21437567|PMID:21518409|PMID:21521320|PMID:21569204|PMID:21604084|PMID:21696527|PMID:21720051|PMID:21831042|PMID:21921030|PMID:22028181|PMID:22035297|PMID:22060211|PMID:22101819|PMID:22291974|PMID:22298776|PMID:22332836|PMID:22335469|PMID:22341299|PMID:22389783|PMID:22493702|PMID:22525692|PMID:22540858|PMID:22611063|PMID:22761713|PMID:22773699|PMID:22808921|PMID:22820548|PMID:23009393|PMID:23085272|PMID:23295287|PMID:23295292|PMID:23433541|PMID:23771172|PMID:23771925|PMID:23890519|PMID:24001579|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24411943|PMID:24430320|PMID:24518839|PMID:24549415|PMID:24568320|PMID:24578721|PMID:24660669|PMID:24677712|PMID:24728127|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25082184|PMID:25174781|PMID:25182307|PMID:25203462|PMID:25306193|PMID:25414397|PMID:25494859|PMID:25555642|PMID:25723349|PMID:25741868|PMID:25755231|PMID:25850297|PMID:25935773|PMID:26059258|PMID:26123671|PMID:26208450|PMID:26226118|PMID:26287533|PMID:26467025|PMID:26552609|PMID:26587058|PMID:26669242|PMID:27059371|PMID:27080136|PMID:27106716|PMID:27185633|PMID:27256595|PMID:27256596|PMID:27269892|PMID:27271189|PMID:27913849|PMID:27935851|PMID:28012402|PMID:28170077|PMID:28323911|PMID:28371533|PMID:28492532|PMID:28555465|PMID:28575730|PMID:28663157|PMID:28701371|PMID:28726111|PMID:28842611|PMID:29056535|PMID:29207974|PMID:29329106|PMID:29412391|PMID:29417725|PMID:29424410|PMID:29510678|PMID:29777474|PMID:29792621|PMID:29927023|PMID:30053375|PMID:30086370|PMID:30105470|PMID:30155490|PMID:30191644|PMID:30245511|PMID:30257192|PMID:30259503|PMID:30447144|PMID:30592380|PMID:30608898|PMID:30656436|PMID:30663027|PMID:30977832|PMID:31063852|PMID:31197960|PMID:31216263|PMID:31264968|PMID:31576961|PMID:31604004|PMID:31638168|PMID:31956423|PMID:31957151|PMID:31968686|PMID:32017842|PMID:32074423|PMID:32375122|PMID:32533152|PMID:32741144|PMID:33046911|PMID:33072637|PMID:33129248|PMID:33242514|PMID:33324081|PMID:33477506|PMID:33565752|PMID:34023340|PMID:34108472|PMID:34373539|PMID:34393998|PMID:34440516|PMID:34532767|PMID:34556497|PMID:34662886|PMID:34789499|PMID:35176401|PMID:35592779|PMID:36208030|PMID:36257325|PMID:36400171|PMID:7542040|PMID:7553875|PMID:7555485|PMID:8068341|PMID:8094163|PMID:8094164|PMID:8132752|PMID:8168652|PMID:8314448|PMID:8325892|PMID:8349034|PMID:8376578|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8495817|PMID:8897004|PMID:8932999|PMID:9049484|PMID:9078243|PMID:9472859|PMID:9536098|PMID:9662401|PMID:9713013|PMID:9736233|PMID:9867845 12185506 GCK glucokinase gene DOID:0111102 maturity-onset diabetes of the young type 3 ISO RGD:735697 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3 PMID:19790256|PMID:25741868|PMID:28726111 12185506 GCK glucokinase gene DOID:10763 hypertension susceptibility ISO RGD:735697 D RGD:9068941 20200609 RGD PMID:9324112|REF_RGD_ID:1581877 12185506 GCK glucokinase gene DOID:11714 gestational diabetes ISO RGD:735697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gestational diabetes PMID:10525657|PMID:10754480|PMID:12442280|PMID:14517946|PMID:14517956|PMID:15102714|PMID:15305805|PMID:16731834|PMID:17186219|PMID:17389332|PMID:17937063|PMID:18056790|PMID:18414213|PMID:19790256|PMID:20337973|PMID:21395678|PMID:21831042|PMID:21921030|PMID:21978167|PMID:22028181|PMID:22065275|PMID:22493702|PMID:22820548|PMID:23771172|PMID:24033266|PMID:24568320|PMID:24578721|PMID:25082184|PMID:25306193|PMID:25494859|PMID:25555642|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29510678|PMID:29777474|PMID:30191644|PMID:32074423|PMID:36257325|PMID:8068341|PMID:8132752|PMID:8433729|PMID:8446612 12185506 GCK glucokinase gene DOID:11717 neonatal diabetes ISO RGD:735697 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neonatal diabetes mellitus PMID:27269892|PMID:29510678|PMID:30257192|PMID:31197960|PMID:32375122|PMID:33129248 12185506 GCK glucokinase gene DOID:13317 hyperinsulinemic hypoglycemia ISO RGD:731555 D RGD:9068941 20220825 MouseDO OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021 12185506 GCK glucokinase gene DOID:2018 hyperinsulinism ISO RGD:735697 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperinsulinism, Dominant PMID:27269892|PMID:29510678|PMID:30257192|PMID:31197960|PMID:32375122|PMID:33129248 12185506 GCK glucokinase gene DOID:3393 coronary artery disease susceptibility ISO RGD:735697 D RGD:9068941 20200806 RGD DNA:SNP:promoter:-30G>A (human) PMID:15173029|REF_RGD_ID:2301876 12185506 GCK glucokinase gene DOID:4195 hyperglycemia ISO RGD:735697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18056790 12185506 GCK glucokinase gene DOID:4195 hyperglycemia treatment ISO RGD:731555 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:21937665|REF_RGD_ID:7488968 12185506 GCK glucokinase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12185506 GCK glucokinase gene DOID:630 genetic disease ISO RGD:735697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11393552|PMID:19884385|PMID:21831042|PMID:22101819|PMID:25741868|PMID:26467025|PMID:27188453|PMID:27269892|PMID:28247534|PMID:28492532|PMID:28726111|PMID:29510678|PMID:30257192|PMID:31197960|PMID:32375122|PMID:33129248 12185506 GCK glucokinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 12185506 GCK glucokinase gene DOID:9002261 Permanent Neonatal Diabetes Mellitus 1 ISO RGD:735697 D RGD:7240710 20200506 OMIM 12185506 GCK glucokinase gene DOID:9002261 Permanent Neonatal Diabetes Mellitus 1 ISO RGD:735697 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus 1 PMID:10525657|PMID:11372010|PMID:11553210|PMID:1502186|PMID:17573900|PMID:17937063|PMID:20301620|PMID:21569204|PMID:21720051|PMID:22335469|PMID:24323243|PMID:24735133|PMID:25555642|PMID:25741868|PMID:26467025|PMID:27269892|PMID:28492532|PMID:29056535|PMID:29510678|PMID:30257192|PMID:31197960|PMID:31638168|PMID:32375122|PMID:33129248|PMID:36257325|PMID:8325892|PMID:8446612|PMID:8495817|PMID:9049484 12185506 GCK glucokinase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2670 D RGD:9068941 20200609 RGD protein:decreased activity:liver:reduced activity, energy of activation and affinity for glucose in streptozotocin diabetic rats PMID:2132180|REF_RGD_ID:2301955 12185506 GCK glucokinase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12185506 GCK glucokinase gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:735697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15277402 12185506 GCK glucokinase gene DOID:9007692 Insulin Resistance ISO RGD:2670 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic islet PMID:19039094|REF_RGD_ID:7488970 12185506 GCK glucokinase gene DOID:9008691 Liver Injury ISO RGD:2670 D RGD:9068941 20200609 RGD protein:increased nitration, increased oxidation, decreased expression, decreased activity:liver PMID:22884880|REF_RGD_ID:7488971 12185506 GCK glucokinase gene DOID:9351 diabetes mellitus ISO RGD:735697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10447526|PMID:10525657|PMID:11079754|PMID:11508276|PMID:11942313|PMID:12442280|PMID:12627330|PMID:12955723|PMID:14517946|PMID:14517956|PMID:15102714|PMID:15305805|PMID:15448103|PMID:15667334|PMID:15752705|PMID:16444761|PMID:16602010|PMID:16731834|PMID:16965331|PMID:17204055|PMID:17353190|PMID:17389332|PMID:17573900|PMID:17937063|PMID:18056790|PMID:18399931|PMID:18407139|PMID:18414213|PMID:18481947|PMID:19069349|PMID:19150152|PMID:19187021|PMID:19228875|PMID:19339519|PMID:19358091|PMID:19551638|PMID:19564454|PMID:19790256|PMID:20337973|PMID:20458967|PMID:21104275|PMID:21348868|PMID:21521320|PMID:21831042|PMID:21978167|PMID:22028181|PMID:22035297|PMID:22065275|PMID:22289546|PMID:22332836|PMID:22389783|PMID:22493702|PMID:22611063|PMID:22773699|PMID:23433541|PMID:23506826|PMID:24430320|PMID:24518839|PMID:24660669|PMID:24918535|PMID:25015100|PMID:25182307|PMID:25741868|PMID:26467025|PMID:26552609|PMID:27059371|PMID:27080136|PMID:27106716|PMID:28492532|PMID:28663157|PMID:28726111|PMID:28842611|PMID:29207974|PMID:29510678|PMID:30053375|PMID:30105470|PMID:30155490|PMID:30245511|PMID:31638168|PMID:32375122|PMID:34440516|PMID:7542040|PMID:8325892|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8897004 12185506 GCK glucokinase gene DOID:9351 diabetes mellitus ISO RGD:735697 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10694920|PMID:11079754|PMID:11508276|PMID:11942313|PMID:12442280|PMID:12627330|PMID:12955723|PMID:1354782|PMID:14517946|PMID:14517956|PMID:14578306|PMID:15102714|PMID:15305805|PMID:15448103|PMID:15667334|PMID:15752705|PMID:15841481|PMID:15928245|PMID:16059790|PMID:16173921|PMID:16444761|PMID:16602010|PMID:16731834|PMID:16965331|PMID:17079173|PMID:17204055|PMID:17353190|PMID:17389332|PMID:17573900|PMID:17937063|PMID:18056790|PMID:18271687|PMID:18399931|PMID:18407139|PMID:18414213|PMID:18481947|PMID:19069349|PMID:19150152|PMID:19187021|PMID:19228875|PMID:19309449|PMID:19339519|PMID:19358091|PMID:19551638|PMID:19564454|PMID:19790256|PMID:20337973|PMID:20458967|PMID:21104275|PMID:21348868|PMID:21521320|PMID:21831042|PMID:21978167|PMID:22028181|PMID:22035297|PMID:22060211|PMID:22065275|PMID:22289546|PMID:22332836|PMID:22335469|PMID:22389783|PMID:22493702|PMID:22611063|PMID:22761713|PMID:22773699|PMID:23295292|PMID:23352578|PMID:23433541|PMID:23506826|PMID:23771172|PMID:24033266|PMID:24323243|PMID:24430320|PMID:24518839|PMID:24549415|PMID:24578721|PMID:24606082|PMID:24660669|PMID:24677712|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25174781|PMID:25182307|PMID:25306193|PMID:25414397|PMID:25555642|PMID:25741868|PMID:26226118|PMID:26287533|PMID:26467025|PMID:26552609|PMID:27059371|PMID:27080136|PMID:27106716|PMID:27256595|PMID:27256596|PMID:27269892|PMID:28012402|PMID:28170077|PMID:28371533|PMID:28492532|PMID:28663157|PMID:28726111|PMID:28842611|PMID:29056535|PMID:29207974|PMID:29510678|PMID:29927023|PMID:30053375|PMID:30105470|PMID:30155490|PMID:30191644|PMID:30245511|PMID:30257192|PMID:30259503|PMID:30447144|PMID:30592380|PMID:30663027|PMID:31197960|PMID:31216263|PMID:31416898|PMID:31604004|PMID:31638168|PMID:31704690|PMID:31957151|PMID:32375122|PMID:32533152|PMID:33046911|PMID:33129248|PMID:33477506|PMID:34108472|PMID:34373539|PMID:34440516|PMID:34556497|PMID:34662886|PMID:34746319|PMID:35176401|PMID:36208030|PMID:36257325|PMID:36400171|PMID:7542040|PMID:7553875|PMID:8068341|PMID:8168652|PMID:8325892|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8897004|PMID:8933019|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9472859|PMID:9662401|PMID:9713013|PMID:9867845 12185506 GCK glucokinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:735697 D RGD:7240710 20180130 OMIM 12185506 GCK glucokinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:735697 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10753050|PMID:11315828|PMID:11508276|PMID:11942313|PMID:12442280|PMID:12627330|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:15305805|PMID:15841481|PMID:15928245|PMID:16059790|PMID:16173921|PMID:16444761|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17389332|PMID:17573900|PMID:18271687|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18411240|PMID:19002431|PMID:19309449|PMID:19515026|PMID:19790256|PMID:20337973|PMID:21104275|PMID:21348868|PMID:21604084|PMID:21831042|PMID:21921030|PMID:22028181|PMID:22060211|PMID:22335469|PMID:22389783|PMID:22493702|PMID:22611063|PMID:22773699|PMID:22820548|PMID:23295287|PMID:23295292|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24430320|PMID:24518839|PMID:24568320|PMID:24578721|PMID:24660669|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25306193|PMID:25414397|PMID:25555642|PMID:25741868|PMID:26467025|PMID:26552609|PMID:27080136|PMID:27185633|PMID:27269892|PMID:27271189|PMID:28012402|PMID:28170077|PMID:28492532|PMID:28663157|PMID:28701371|PMID:28726111|PMID:29056535|PMID:29207974|PMID:29510678|PMID:29777474|PMID:29927023|PMID:30191644|PMID:30257192|PMID:30590153|PMID:30592380|PMID:30656436|PMID:31063852|PMID:31197960|PMID:31216263|PMID:31576961|PMID:31638168|PMID:31957151|PMID:32017842|PMID:32074423|PMID:32375122|PMID:32533152|PMID:32741144|PMID:33046911|PMID:33129248|PMID:33477506|PMID:34023340|PMID:34393998|PMID:34440516|PMID:36257325|PMID:7553875|PMID:8094163|PMID:8094164|PMID:8168652|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8897004|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9867845 12185506 GCK glucokinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:735697 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10753050|PMID:11315828|PMID:11372010|PMID:11508276|PMID:11553210|PMID:11942313|PMID:12442280|PMID:12627330|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1502186|PMID:15305805|PMID:15841481|PMID:15928245|PMID:16059790|PMID:16173921|PMID:16444761|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17389332|PMID:17573900|PMID:17937063|PMID:18271687|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18411240|PMID:19002431|PMID:19309449|PMID:19515026|PMID:19564454|PMID:19790256|PMID:20301620|PMID:20337973|PMID:21104275|PMID:21348868|PMID:21569204|PMID:21604084|PMID:21720051|PMID:21831042|PMID:21921030|PMID:22028181|PMID:22060211|PMID:22335469|PMID:22389783|PMID:22493702|PMID:22611063|PMID:22773699|PMID:22820548|PMID:23295287|PMID:23295292|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24430320|PMID:24518839|PMID:24568320|PMID:24578721|PMID:24660669|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25306193|PMID:25414397|PMID:25555642|PMID:25741868|PMID:26467025|PMID:26552609|PMID:27080136|PMID:27185633|PMID:27256595|PMID:27269892|PMID:27271189|PMID:27913849|PMID:28012402|PMID:28170077|PMID:28492532|PMID:28663157|PMID:28701371|PMID:28726111|PMID:29056535|PMID:29207974|PMID:29510678|PMID:29777474|PMID:29927023|PMID:30191644|PMID:30257192|PMID:30259503|PMID:30590153|PMID:30592380|PMID:30656436|PMID:31063852|PMID:31197960|PMID:31216263|PMID:31576961|PMID:31638168|PMID:31957151|PMID:32017842|PMID:32074423|PMID:32375122|PMID:32533152|PMID:32741144|PMID:33046911|PMID:33129248|PMID:33477506|PMID:34023340|PMID:34393998|PMID:34440516|PMID:36257325|PMID:7553875|PMID:8094163|PMID:8094164|PMID:8168652|PMID:8325892|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8495817|PMID:8897004|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9867845 12185506 GCK glucokinase gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:735697 D RGD:9068941 20200609 RGD DNA:microsatellite marker genotypes:3', 5':no association between genotypes of upstream or downstream microsatellite markers and T2DM in Welsh Caucasians PMID:8314445|REF_RGD_ID:2301883 12185506 GCK glucokinase gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:735697 D RGD:9068941 20200609 RGD DNA:polymorphisms:multiple:no association between multiple SSLP and SNP alleles and T2DM in a Japanese population PMID:8200206|REF_RGD_ID:2301887 12185506 GCK glucokinase gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:2670 D RGD:9068941 20200609 RGD PMID:22234649|REF_RGD_ID:7488969 12185506 GCK glucokinase gene DOID:9452 fatty liver disease ISO RGD:2670 D RGD:9068941 20200609 RGD PMID:22925001|REF_RGD_ID:7488945 12185506 GCK glucokinase gene DOID:9452 fatty liver disease ISO RGD:731555 D RGD:9068941 20200609 RGD associated with Hyperglycemia PMID:22925001|REF_RGD_ID:7488945 12185506 GCK glucokinase gene DOID:9970 obesity ISO RGD:2670 D RGD:9068941 20200609 RGD DNA, mRNA, protein:hypermethylation, increased expression:liver PMID:21239437|REF_RGD_ID:7488967 12185506 GCK glucokinase gene DOID:9993 hypoglycemia ISO RGD:735697 D RGD:9068941 20200609 RGD hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M PMID:9435328|REF_RGD_ID:1601294 12185507 HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 gene DOID:11612 polycystic ovary syndrome ISO RGD:2837 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovarian cortex (rat) PMID:25887459|REF_RGD_ID:10402205 12185507 HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 gene DOID:1540 parathyroid carcinoma ISO RGD:735953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12185507 HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 gene DOID:630 genetic disease ISO RGD:735953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185507 HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12185534 CYP4A11 cytochrome P450, family 4, subfamily A, polypeptide 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1603864 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12185534 CYP4A11 cytochrome P450, family 4, subfamily A, polypeptide 11 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1603864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 12185534 CYP4A11 cytochrome P450, family 4, subfamily A, polypeptide 11 gene DOID:630 genetic disease ISO RGD:1603864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185553 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:1616839 D RGD:9068941 20201211 RGD PMID:15670795|REF_RGD_ID:40902819 12185553 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:0080690 RASopathy ISO RGD:1345835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12185553 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1345835 D RGD:9068941 20200609 RGD PMID:15567511|REF_RGD_ID:10395348 12185553 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1616839 D RGD:9068941 20200609 RGD protein:increased threonine phosphorylation:hippocampus PMID:24315369|REF_RGD_ID:10395344 12185553 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:12858 Huntington's disease ISO RGD:1345835 D RGD:9068941 20200609 RGD PMID:11468270|PMID:15567511|REF_RGD_ID:10395345|REF_RGD_ID:10395348 12185553 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:12858 Huntington's disease ISO RGD:1616839 D RGD:9068941 20200609 RGD PMID:11468270|REF_RGD_ID:10395345 12185553 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:14330 Parkinson's disease ISO RGD:1345835 D RGD:9068941 20200609 RGD PMID:15567511|REF_RGD_ID:10395348 12185553 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:1824 status epilepticus ISO RGD:1345835 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16492139 12185553 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:2043 hepatitis B disease_progression ISO RGD:1345835 D RGD:9068941 20201218 RGD PMID:11861827|REF_RGD_ID:40902828 12185553 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:3298 vaccinia severity ISO RGD:1616839 D RGD:9068941 20201211 RGD PMID:11967338|REF_RGD_ID:40902818 12185553 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:3298 vaccinia susceptibility ISO RGD:1616839 D RGD:9068941 20201211 RGD PMID:20943971|REF_RGD_ID:40902816 12185553 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1345835 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:12675919|REF_RGD_ID:2301741 12185553 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:3402 D RGD:9068941 20200903 RGD protein:increased expression:lung PMID:32209028|REF_RGD_ID:38549370 12185553 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:630 genetic disease ISO RGD:1345835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32197074 12185553 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease ISO RGD:1345835 D RGD:9068941 20200609 RGD PMID:19151623|REF_RGD_ID:10395347 12185553 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9001488 Human Influenza ISO RGD:1345835 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12185553 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345835 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12185553 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1345835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:25741868|PMID:32197074 12185553 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9003110 LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME ISO RGD:1345835 D RGD:7240710 20200715 OMIM 12185553 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9003110 LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME ISO RGD:1345835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome PMID:25741868|PMID:32197074|PMID:33236446|PMID:33553620|PMID:35146068 12185553 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9004531 Cardiovirus Infections ISO RGD:1616839 D RGD:9068941 20201211 RGD PMID:21636578|REF_RGD_ID:40902809 12185553 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9007930 Dystonia 33 ISO RGD:1345835 D RGD:7240710 20220112 OMIM 12185553 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9007930 Dystonia 33 ISO RGD:1345835 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dystonia 33 PMID:25741868|PMID:33236446|PMID:33866603|PMID:35146068 12185553 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1345835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32197074 12185581 CPLX3 complexin 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604870 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12185581 CPLX3 complexin 3 gene DOID:2717 Bloom syndrome ISO RGD:1604870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12185581 CPLX3 complexin 3 gene DOID:5419 schizophrenia ISO RGD:1604870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12185581 CPLX3 complexin 3 gene DOID:630 genetic disease ISO RGD:1604870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185581 CPLX3 complexin 3 gene DOID:9256 colorectal cancer ISO RGD:1604870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12185593 TEAD4 TEA domain transcription factor 4 gene DOID:630 genetic disease ISO RGD:1605719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185593 TEAD4 TEA domain transcription factor 4 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12185611 ZNF22 zinc finger protein 22 gene DOID:630 genetic disease ISO RGD:1318379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185627 ZNF554 zinc finger protein 554 gene DOID:630 genetic disease ISO RGD:1346175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185627 ZNF554 zinc finger protein 554 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12185664 EID3 EP300 interacting inhibitor of differentiation 3 gene DOID:630 genetic disease ISO RGD:1603793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185672 DYNLT1 dynein light chain Tctex-type 1 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:732244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 12185672 DYNLT1 dynein light chain Tctex-type 1 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:732244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 12185672 DYNLT1 dynein light chain Tctex-type 1 gene DOID:630 genetic disease ISO RGD:732244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185726 IWS1 interacts with SUPT6H, CTD assembly factor 1 gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1604340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:28492532 12185726 IWS1 interacts with SUPT6H, CTD assembly factor 1 gene DOID:0111220 centronuclear myopathy 2 ISO RGD:1604340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 12185726 IWS1 interacts with SUPT6H, CTD assembly factor 1 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1604340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 12185726 IWS1 interacts with SUPT6H, CTD assembly factor 1 gene DOID:630 genetic disease ISO RGD:1604340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185751 PCBP4 poly(rC) binding protein 4 gene DOID:630 genetic disease ISO RGD:1317376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185777 PNLIP pancreatic lipase gene DOID:630 genetic disease ISO RGD:734222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12185777 PNLIP pancreatic lipase gene DOID:9006405 Pancreatic Lipase Deficiency ISO RGD:734222 D RGD:7240710 20180130 OMIM 12185777 PNLIP pancreatic lipase gene DOID:9006405 Pancreatic Lipase Deficiency ISO RGD:734222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pancreatic lipase deficiency PMID:24262094|PMID:25741868|PMID:25862608|PMID:28492532 12185777 PNLIP pancreatic lipase gene DOID:9970 obesity susceptibility ISO RGD:3360 D RGD:9068941 20200609 RGD PMID:15883013|REF_RGD_ID:1358859 12185794 DHRS1 dehydrogenase/reductase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1352104 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12185794 DHRS1 dehydrogenase/reductase 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1352104 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12185794 DHRS1 dehydrogenase/reductase 1 gene DOID:630 genetic disease ISO RGD:1352104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185794 DHRS1 dehydrogenase/reductase 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1352104 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12185794 DHRS1 dehydrogenase/reductase 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1352104 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12185807 RASD2 RASD family member 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1346276 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12185807 RASD2 RASD family member 2 gene DOID:630 genetic disease ISO RGD:1346276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185817 CNR1 cannabinoid receptor 1 gene DOID:0060001 withdrawal disorder ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18705688 12185817 CNR1 cannabinoid receptor 1 gene DOID:0080855 Parkinsonism ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19414037|REF_RGD_ID:2314672 12185817 CNR1 cannabinoid receptor 1 gene DOID:10603 glucose intolerance ISO RGD:735525 D RGD:9068941 20201218 CTD CTD Direct Evidence: therapeutic PMID:26563389 12185817 CNR1 cannabinoid receptor 1 gene DOID:10763 hypertension ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19133994|REF_RGD_ID:2314680 12185817 CNR1 cannabinoid receptor 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22034972 12185817 CNR1 cannabinoid receptor 1 gene DOID:12858 Huntington's disease ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20929960 12185817 CNR1 cannabinoid receptor 1 gene DOID:13580 cholestasis ISO RGD:735525 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:26884397 12185817 CNR1 cannabinoid receptor 1 gene DOID:1561 cognitive disorder ISO RGD:735525 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:29294249 12185817 CNR1 cannabinoid receptor 1 gene DOID:1793 pancreatic cancer ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16818650 12185817 CNR1 cannabinoid receptor 1 gene DOID:1824 status epilepticus ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19368833|REF_RGD_ID:2314675 12185817 CNR1 cannabinoid receptor 1 gene DOID:1824 status epilepticus ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19368833 12185817 CNR1 cannabinoid receptor 1 gene DOID:1875 impotence ISO RGD:2369 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17850365|REF_RGD_ID:2314634 12185817 CNR1 cannabinoid receptor 1 gene DOID:2030 anxiety disorder ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15081793|PMID:18690112 12185817 CNR1 cannabinoid receptor 1 gene DOID:2055 post-traumatic stress disorder ISO RGD:735525 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:34262461 12185817 CNR1 cannabinoid receptor 1 gene DOID:2234 focal epilepsy ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19595742|REF_RGD_ID:2314658 12185817 CNR1 cannabinoid receptor 1 gene DOID:2377 multiple sclerosis ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12876144 12185817 CNR1 cannabinoid receptor 1 gene DOID:289 endometriosis ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12185817 CNR1 cannabinoid receptor 1 gene DOID:303 substance-related disorder ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18690112|PMID:21513772|PMID:9888857 12185817 CNR1 cannabinoid receptor 1 gene DOID:3247 rhabdomyosarcoma ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19509271 12185817 CNR1 cannabinoid receptor 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20498848 12185817 CNR1 cannabinoid receptor 1 gene DOID:418 systemic scleroderma ISO RGD:735525 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27228633 12185817 CNR1 cannabinoid receptor 1 gene DOID:480 movement disease ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10802025 12185817 CNR1 cannabinoid receptor 1 gene DOID:4989 pancreatitis ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17484889 12185817 CNR1 cannabinoid receptor 1 gene DOID:5082 liver cirrhosis ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11433348|PMID:21863215 12185817 CNR1 cannabinoid receptor 1 gene DOID:5419 schizophrenia ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21513772 12185817 CNR1 cannabinoid receptor 1 gene DOID:5419 schizophrenia susceptibility ISO RGD:735525 D RGD:9068941 20200814 RGD PMID:11803524|PMID:15613777|REF_RGD_ID:1358449|REF_RGD_ID:1626328 12185817 CNR1 cannabinoid receptor 1 gene DOID:5419 schizophrenia treatment ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19854030|REF_RGD_ID:2314639 12185817 CNR1 cannabinoid receptor 1 gene DOID:630 genetic disease ISO RGD:735525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185817 CNR1 cannabinoid receptor 1 gene DOID:750 peptic ulcer disease ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19827302|REF_RGD_ID:2314640 12185817 CNR1 cannabinoid receptor 1 gene DOID:8923 skin melanoma ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28131817 12185817 CNR1 cannabinoid receptor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:18930143|REF_RGD_ID:2316199 12185817 CNR1 cannabinoid receptor 1 gene DOID:9000641 Pain ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19661434|REF_RGD_ID:2314649 12185817 CNR1 cannabinoid receptor 1 gene DOID:9000641 Pain ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19193902 12185817 CNR1 cannabinoid receptor 1 gene DOID:9000972 Fever ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19681872|REF_RGD_ID:2314645 12185817 CNR1 cannabinoid receptor 1 gene DOID:9001129 Alcohol Withdrawal Delirium ISO RGD:735525 D RGD:9068941 20200609 RGD PMID:11841893|REF_RGD_ID:1626329 12185817 CNR1 cannabinoid receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043671 12185817 CNR1 cannabinoid receptor 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2369 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta, mesenteric artery PMID:19493421|REF_RGD_ID:2314664 12185817 CNR1 cannabinoid receptor 1 gene DOID:9001981 Weight Loss ISO RGD:735525 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31570772|PMID:32365865 12185817 CNR1 cannabinoid receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17572696 12185817 CNR1 cannabinoid receptor 1 gene DOID:9002395 Hypothermia ISO RGD:735525 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:27149200|PMID:27535976|PMID:31877572|PMID:9888857 12185817 CNR1 cannabinoid receptor 1 gene DOID:9002955 Nerve Degeneration ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:18313855|REF_RGD_ID:10059347 12185817 CNR1 cannabinoid receptor 1 gene DOID:9002955 Nerve Degeneration ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11517236|PMID:24211273 12185817 CNR1 cannabinoid receptor 1 gene DOID:9003805 Catalepsy ISO RGD:735525 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10318961|PMID:27149200|PMID:27535976|PMID:31877572 12185817 CNR1 cannabinoid receptor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19372445|REF_RGD_ID:2314674 12185817 CNR1 cannabinoid receptor 1 gene DOID:9004657 Weight Gain ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20107430 12185817 CNR1 cannabinoid receptor 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16314880|PMID:17596442|PMID:19052543 12185817 CNR1 cannabinoid receptor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2369 D RGD:9068941 20200609 RGD protein:increased expression:hypothalamus, striatum PMID:18401837|REF_RGD_ID:2314633 12185817 CNR1 cannabinoid receptor 1 gene DOID:9006024 Hypotension ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19295473|REF_RGD_ID:2314676 12185817 CNR1 cannabinoid receptor 1 gene DOID:9006024 Hypotension ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9888857 12185817 CNR1 cannabinoid receptor 1 gene DOID:9006095 Ascites ISO RGD:2369 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis, Experimental PMID:19208344|REF_RGD_ID:2314678 12185817 CNR1 cannabinoid receptor 1 gene DOID:9006205 Animal Disease Models ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23072421 12185817 CNR1 cannabinoid receptor 1 gene DOID:9007428 Muscle Spasticity ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17220914 12185817 CNR1 cannabinoid receptor 1 gene DOID:9007692 Insulin Resistance ISO RGD:2369 D RGD:9068941 20200609 RGD associated with Obesity PMID:19553924|REF_RGD_ID:2314662 12185817 CNR1 cannabinoid receptor 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:735525 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:29805589|PMID:32751388 12185817 CNR1 cannabinoid receptor 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:18771032|REF_RGD_ID:2316217 12185817 CNR1 cannabinoid receptor 1 gene DOID:9008023 Memory Disorders ISO RGD:735525 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:29294249 12185817 CNR1 cannabinoid receptor 1 gene DOID:9008753 Intravenous Substance Abuse ISO RGD:735525 D RGD:9068941 20200609 RGD PMID:9106242|REF_RGD_ID:1358448 12185817 CNR1 cannabinoid receptor 1 gene DOID:9008953 Binge-Eating Disorder ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23072421 12185817 CNR1 cannabinoid receptor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735525 D RGD:9068941 20200609 RGD PMID:18678611|REF_RGD_ID:2314632 12185817 CNR1 cannabinoid receptor 1 gene DOID:9505 cannabis abuse ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19016476 12185817 CNR1 cannabinoid receptor 1 gene DOID:9743 diabetic neuropathy ISO RGD:2369 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18810243|REF_RGD_ID:2314631 12185817 CNR1 cannabinoid receptor 1 gene DOID:9923 developmental coordination disorder ISO RGD:735525 D RGD:9068941 20210312 CTD CTD Direct Evidence: therapeutic PMID:26460022 12185817 CNR1 cannabinoid receptor 1 gene DOID:9970 obesity ISO RGD:10370 D RGD:9068941 20200609 RGD PMID:19530697|REF_RGD_ID:2314629 12185817 CNR1 cannabinoid receptor 1 gene DOID:9970 obesity ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19325539|REF_RGD_ID:2314630 12185817 CNR1 cannabinoid receptor 1 gene DOID:9970 obesity ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18722357 12185817 CNR1 cannabinoid receptor 1 gene DOID:9970 obesity ISO RGD:735525 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:3813A>G (human) PMID:17405839|REF_RGD_ID:1626325 12185817 CNR1 cannabinoid receptor 1 gene DOID:9970 obesity no_association ISO RGD:735525 D RGD:9068941 20200609 RGD DNA:polymorphism: :1256C>A, 1419+1G>C (human) PMID:17292652|REF_RGD_ID:1626326 12185828 SAMD9L sterile alpha motif domain containing 9 like gene DOID:0050908 myelodysplastic syndrome ISO RGD:1557974 D RGD:9068941 20220825 MouseDO OMIM:614286 12185828 SAMD9L sterile alpha motif domain containing 9 like gene DOID:1059 intellectual disability ISO RGD:1353410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12185828 SAMD9L sterile alpha motif domain containing 9 like gene DOID:10907 microcephaly ISO RGD:1353410 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12185828 SAMD9L sterile alpha motif domain containing 9 like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12185828 SAMD9L sterile alpha motif domain containing 9 like gene DOID:630 genetic disease ISO RGD:1353410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28492532|PMID:29146900|PMID:35310830 12185828 SAMD9L sterile alpha motif domain containing 9 like gene DOID:630 genetic disease ISO RGD:1353410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29146900|PMID:35310830 12185828 SAMD9L sterile alpha motif domain containing 9 like gene DOID:9000617 Myelocerebellar Disorder ISO RGD:1353410 D RGD:7240710 20190315 OMIM 12185828 SAMD9L sterile alpha motif domain containing 9 like gene DOID:9000617 Myelocerebellar Disorder ISO RGD:1353410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-pancytopenia syndrome PMID:2569483|PMID:25741868|PMID:27259050|PMID:28202457|PMID:283689|PMID:28492532|PMID:28570036|PMID:29146883|PMID:30046003|PMID:30322869|PMID:31692161|PMID:33884299|PMID:35310830 12185828 SAMD9L sterile alpha motif domain containing 9 like gene DOID:9000646 Spinocerebellar Ataxia 49 ISO RGD:1353410 D RGD:7240710 20220427 OMIM 12185828 SAMD9L sterile alpha motif domain containing 9 like gene DOID:9000646 Spinocerebellar Ataxia 49 ISO RGD:1353410 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 49 PMID:25741868|PMID:28492532|PMID:29146900|PMID:35310830 12185828 SAMD9L sterile alpha motif domain containing 9 like gene DOID:9007085 Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 ISO RGD:1353410 D RGD:7240710 20201223 OMIM 12185828 SAMD9L sterile alpha motif domain containing 9 like gene DOID:9007085 Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 ISO RGD:1353410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 1 PMID:2569483|PMID:25741868|PMID:27259050|PMID:28202457|PMID:28492532|PMID:28570036|PMID:29146883|PMID:30046003|PMID:33884299 12185834 RRM2 ribonucleotide reductase regulatory subunit M2 gene DOID:0080600 COVID-19 ISO RGD:736125 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12185834 RRM2 ribonucleotide reductase regulatory subunit M2 gene DOID:11054 urinary bladder cancer ISO RGD:11248 D RGD:9068941 20200609 RGD mRNA:increased expression:bladder (mouse) PMID:21139803|REF_RGD_ID:5133688 12185834 RRM2 ribonucleotide reductase regulatory subunit M2 gene DOID:11054 urinary bladder cancer ISO RGD:1598310 D RGD:9068941 20200609 RGD mRNA:increased expression:bladder (rat) PMID:21139803|REF_RGD_ID:5133688 12185834 RRM2 ribonucleotide reductase regulatory subunit M2 gene DOID:11054 urinary bladder cancer ISO RGD:736125 D RGD:9068941 20200609 RGD mRNA:increased expression:bladder (human) PMID:21139803|REF_RGD_ID:5133688 12185834 RRM2 ribonucleotide reductase regulatory subunit M2 gene DOID:11612 polycystic ovary syndrome ISO RGD:736125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12185834 RRM2 ribonucleotide reductase regulatory subunit M2 gene DOID:1793 pancreatic cancer ISO RGD:736125 D RGD:9068941 20200609 RGD PMID:19568409|REF_RGD_ID:2324950 12185834 RRM2 ribonucleotide reductase regulatory subunit M2 gene DOID:2870 endometrial adenocarcinoma ISO RGD:1598310 D RGD:9068941 20200609 RGD DNA:amplification (rat) PMID:15942940|REF_RGD_ID:2324953 12185834 RRM2 ribonucleotide reductase regulatory subunit M2 gene DOID:3459 breast carcinoma ISO RGD:736125 D RGD:9068941 20200609 RGD protein:increased expression:tumor (human) PMID:21556566|REF_RGD_ID:5133696 12185834 RRM2 ribonucleotide reductase regulatory subunit M2 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:736125 D RGD:9068941 20210604 RGD PMID:19002265|REF_RGD_ID:127229933 12185834 RRM2 ribonucleotide reductase regulatory subunit M2 gene DOID:3910 lung adenocarcinoma ISO RGD:736125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12185834 RRM2 ribonucleotide reductase regulatory subunit M2 gene DOID:630 genetic disease ISO RGD:736125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185834 RRM2 ribonucleotide reductase regulatory subunit M2 gene DOID:684 hepatocellular carcinoma ISO RGD:736125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18230555|PMID:28284560 12185834 RRM2 ribonucleotide reductase regulatory subunit M2 gene DOID:9006205 Animal Disease Models ISO RGD:736125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12185834 RRM2 ribonucleotide reductase regulatory subunit M2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 12185848 CHST13 carbohydrate sulfotransferase 13 gene DOID:0060041 autism spectrum disorder ISO RGD:1347829 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12185848 CHST13 carbohydrate sulfotransferase 13 gene DOID:0080600 COVID-19 ISO RGD:1347829 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12185848 CHST13 carbohydrate sulfotransferase 13 gene DOID:630 genetic disease ISO RGD:1347829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185848 CHST13 carbohydrate sulfotransferase 13 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12185848 CHST13 carbohydrate sulfotransferase 13 gene DOID:9270 alkaptonuria ISO RGD:1347829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12185860 CDC37 cell division cycle 37, HSP90 cochaperone gene DOID:630 genetic disease ISO RGD:732258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185872 OR10A7 olfactory receptor family 10 subfamily A member 7 gene DOID:630 genetic disease ISO RGD:1346847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185875 SFXN1 sideroflexin 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1318276 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12185875 SFXN1 sideroflexin 1 gene DOID:630 genetic disease ISO RGD:1318276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185875 SFXN1 sideroflexin 1 gene DOID:9006205 Animal Disease Models ISO RGD:1318276 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12185875 SFXN1 sideroflexin 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318276 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 12185903 ANKFY1 ankyrin repeat and FYVE domain containing 1 gene DOID:0050946 Charlevoix-Saguenay spastic ataxia ISO RGD:1320022 D RGD:9068941 20220825 MouseDO OMIM:270550 12185903 ANKFY1 ankyrin repeat and FYVE domain containing 1 gene DOID:11054 urinary bladder cancer ISO RGD:1320021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 12185903 ANKFY1 ankyrin repeat and FYVE domain containing 1 gene DOID:630 genetic disease ISO RGD:1320021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185951 CD14 CD14 molecule gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1347263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12185951 CD14 CD14 molecule gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1347263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20353583 12185951 CD14 CD14 molecule gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347263 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12185951 CD14 CD14 molecule gene DOID:0080642 Middle East respiratory syndrome ISO RGD:733890 D RGD:9068941 20200619 RGD mRNA:increased expression:lung PMID:31838832|REF_RGD_ID:30309204 12185951 CD14 CD14 molecule gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1347263 D RGD:9068941 20200609 RGD PMID:20555320|REF_RGD_ID:7204130 12185951 CD14 CD14 molecule gene DOID:0110861 autosomal recessive polycystic kidney disease severity ISO RGD:733890 D RGD:9068941 20200609 RGD PMID:20555320|REF_RGD_ID:7204130 12185951 CD14 CD14 molecule gene DOID:10487 Hirschsprung's disease ISO RGD:620588 D RGD:9068941 20200609 RGD protein:increased expression:intestine: PMID:15117676|REF_RGD_ID:7193054 12185951 CD14 CD14 molecule gene DOID:10608 celiac disease ISO RGD:1347263 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP:promoter: PMID:18728522|REF_RGD_ID:2314152 12185951 CD14 CD14 molecule gene DOID:10763 hypertension ISO RGD:1347263 D RGD:9068941 20200609 RGD associated with Glomerulonephritis, IGA; DNA:polymorphism: :-159C>T (human) PMID:22072187|REF_RGD_ID:7204129 12185951 CD14 CD14 molecule gene DOID:11335 sarcoidosis ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20430603|REF_RGD_ID:4144780 12185951 CD14 CD14 molecule gene DOID:11335 sarcoidosis susceptibility ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159C>T (human) PMID:20430603|REF_RGD_ID:4144780 12185951 CD14 CD14 molecule gene DOID:1205 allergic disease resistance ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159C>T (human) PMID:19222419|REF_RGD_ID:4144798 12185951 CD14 CD14 molecule gene DOID:13189 gout ISO RGD:1347263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26462562 12185951 CD14 CD14 molecule gene DOID:13250 diarrhea ISO RGD:1347263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21596674 12185951 CD14 CD14 molecule gene DOID:13580 cholestasis ISO RGD:620588 D RGD:9068941 20200609 RGD PMID:22511970|REF_RGD_ID:7183752 12185951 CD14 CD14 molecule gene DOID:13603 obstructive jaundice ISO RGD:620588 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum, liver, lung, spleen PMID:25093541|REF_RGD_ID:9685190 12185951 CD14 CD14 molecule gene DOID:13608 biliary atresia disease_progression ISO RGD:1347263 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, plasma: PMID:21172039|REF_RGD_ID:7184431 12185951 CD14 CD14 molecule gene DOID:1485 cystic fibrosis ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:increased expression:Macrophages, Alveolar PMID:20302606|REF_RGD_ID:4144794 12185951 CD14 CD14 molecule gene DOID:1485 cystic fibrosis susceptibility ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159 C>T PMID:19466271|REF_RGD_ID:4144796 12185951 CD14 CD14 molecule gene DOID:2841 asthma ISO RGD:1347263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17607003 12185951 CD14 CD14 molecule gene DOID:2841 asthma ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:19096003|REF_RGD_ID:4144228 12185951 CD14 CD14 molecule gene DOID:2841 asthma ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16387800|REF_RGD_ID:4144813 12185951 CD14 CD14 molecule gene DOID:2841 asthma no_association ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159C>T (human) PMID:15741437|REF_RGD_ID:4144815 12185951 CD14 CD14 molecule gene DOID:2841 asthma severity ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -260C>T (human) PMID:15940135|REF_RGD_ID:4144814 12185951 CD14 CD14 molecule gene DOID:2841 asthma severity ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:increased expression:serum|DNA:polymorphism:promoter:c. -159C>T (human) PMID:16387800|REF_RGD_ID:4144813 12185951 CD14 CD14 molecule gene DOID:2841 asthma susceptibility ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159C>T (human) PMID:18312481|REF_RGD_ID:4144208 12185951 CD14 CD14 molecule gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1347263 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 12185951 CD14 CD14 molecule gene DOID:2957 pulmonary tuberculosis ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:increased expression:monocyte, serum PMID:18008256|REF_RGD_ID:4144205 12185951 CD14 CD14 molecule gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159C>T (human) PMID:18008256|REF_RGD_ID:4144205 12185951 CD14 CD14 molecule gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159C>T (human) PMID:12566518|REF_RGD_ID:7204499 12185951 CD14 CD14 molecule gene DOID:3393 coronary artery disease no_association ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:SNP:promoter PMID:18157711|REF_RGD_ID:2314154 12185951 CD14 CD14 molecule gene DOID:3407 carotid artery disease ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:SNP:promotor PMID:16873708|REF_RGD_ID:2314156 12185951 CD14 CD14 molecule gene DOID:3407 carotid artery disease susceptibility ISO RGD:1347263 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; DNA:polymorphism:promoter:c. -159C>T (human) PMID:15640605|REF_RGD_ID:7204441 12185951 CD14 CD14 molecule gene DOID:4483 rhinitis resistance ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159c>T (human) PMID:16950285|REF_RGD_ID:4144810 12185951 CD14 CD14 molecule gene DOID:4483 rhinitis susceptibility ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159c>T (human) PMID:20109306|REF_RGD_ID:4144795 12185951 CD14 CD14 molecule gene DOID:4989 pancreatitis ISO RGD:733890 D RGD:9068941 20200609 RGD PMID:19201771|REF_RGD_ID:4144143 12185951 CD14 CD14 molecule gene DOID:5082 liver cirrhosis ISO RGD:1347263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20353583 12185951 CD14 CD14 molecule gene DOID:5199 ureteral obstruction ISO RGD:733890 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney PMID:10966493|REF_RGD_ID:7204444 12185951 CD14 CD14 molecule gene DOID:552 pneumonia ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:increased expression:multiple PMID:20302606|REF_RGD_ID:4144794 12185951 CD14 CD14 molecule gene DOID:5844 myocardial infarction ISO RGD:1347263 D RGD:9068941 20200609 RGD PMID:10195920|PMID:14587643|REF_RGD_ID:1580252|REF_RGD_ID:1580255 12185951 CD14 CD14 molecule gene DOID:5844 myocardial infarction no_association ISO RGD:1347263 D RGD:9068941 20200609 RGD associated with Coronary Artery Disease;DNA:SNP:promoter PMID:17436151|REF_RGD_ID:2314155 12185951 CD14 CD14 molecule gene DOID:630 genetic disease ISO RGD:1347263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185951 CD14 CD14 molecule gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1347263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12185951 CD14 CD14 molecule gene DOID:824 periodontitis ISO RGD:620588 D RGD:9068941 20200609 RGD protein:increased expression:monocyte, neutrophil: PMID:17565820|REF_RGD_ID:7191232 12185951 CD14 CD14 molecule gene DOID:850 lung disease ISO RGD:733890 D RGD:9068941 20200609 RGD acute lung injury PMID:15731076|REF_RGD_ID:4144789 12185951 CD14 CD14 molecule gene DOID:850 lung disease ISO RGD:733890 D RGD:9068941 20200609 RGD lung injury associated with Kidney Failure, Acute; mRNA:increased expression:lung PMID:18235097|REF_RGD_ID:4144782 12185951 CD14 CD14 molecule gene DOID:850 lung disease ISO RGD:733890 D RGD:9068941 20200609 RGD lung injury associated with pancreatitis PMID:19201771|REF_RGD_ID:4144143 12185951 CD14 CD14 molecule gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:increased expression:small intestine PMID:19824106|REF_RGD_ID:4144091 12185951 CD14 CD14 molecule gene DOID:8677 perinatal necrotizing enterocolitis disease_progression ISO RGD:620588 D RGD:9068941 20200609 RGD PMID:19824106|REF_RGD_ID:4144091 12185951 CD14 CD14 molecule gene DOID:874 bacterial pneumonia ISO RGD:733890 D RGD:9068941 20200609 RGD PMID:16210672|REF_RGD_ID:4144197 12185951 CD14 CD14 molecule gene DOID:898 autosomal dominant polycystic kidney disease disease_progression ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:altered localization:kidney,urine PMID:20555320|REF_RGD_ID:7204130 12185951 CD14 CD14 molecule gene DOID:9000528 Coronary Disease ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:10831941|REF_RGD_ID:2314175 12185951 CD14 CD14 molecule gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1347263 D RGD:9068941 20200609 RGD associated with asthma; DNA:polymorphism:promoter:c. -159C>T (human) PMID:17196641|REF_RGD_ID:4144784 12185951 CD14 CD14 molecule gene DOID:9000998 Brain Injuries ISO RGD:1347263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 12185951 CD14 CD14 molecule gene DOID:9001488 Human Influenza ISO RGD:733890 D RGD:9068941 20200609 RGD PMID:17825924|REF_RGD_ID:4144809 12185951 CD14 CD14 molecule gene DOID:9001981 Weight Loss ISO RGD:1347263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28411859 12185951 CD14 CD14 molecule gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:733890 D RGD:9068941 20200609 RGD PMID:17185649|REF_RGD_ID:4144788 12185951 CD14 CD14 molecule gene DOID:9002159 Liver Reperfusion Injury ISO RGD:620588 D RGD:9068941 20200609 RGD PMID:22564590|REF_RGD_ID:7183676 12185951 CD14 CD14 molecule gene DOID:9002676 Cerebral Hemorrhage ISO RGD:620588 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, intestine: PMID:19534684|REF_RGD_ID:7185660 12185951 CD14 CD14 molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12185951 CD14 CD14 molecule gene DOID:9004590 Acute Liver Failure ISO RGD:620588 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:18070011|REF_RGD_ID:4144156 12185951 CD14 CD14 molecule gene DOID:9005930 Endotoxemia ISO RGD:620588 D RGD:9068941 20200609 RGD protein:increased expression:liver, endothelial cell of sinusoid PMID:12046090|REF_RGD_ID:724637 12185951 CD14 CD14 molecule gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:733890 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney PMID:10966493|REF_RGD_ID:7204444 12185951 CD14 CD14 molecule gene DOID:9006647 Experimental Autoimmune Neuritis severity ISO RGD:620588 D RGD:9068941 20200609 RGD PMID:19162137|REF_RGD_ID:2312712 12185951 CD14 CD14 molecule gene DOID:9006928 Viral Bronchiolitis ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c.-550C>T (human) PMID:17471431|REF_RGD_ID:4144210 12185951 CD14 CD14 molecule gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347263 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12185951 CD14 CD14 molecule gene DOID:9007356 Eczema ISO RGD:1347263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19759553 12185951 CD14 CD14 molecule gene DOID:9007730 Burns ISO RGD:620588 D RGD:9068941 20200609 RGD PMID:12435950|REF_RGD_ID:2313390 12185951 CD14 CD14 molecule gene DOID:9007730 Burns ISO RGD:620588 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple organs: PMID:11829837|REF_RGD_ID:7204443 12185951 CD14 CD14 molecule gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:620588 D RGD:9068941 20200609 RGD protein:increased expression:heart, kidney, liver, lung PMID:22493902|REF_RGD_ID:9685194 12185951 CD14 CD14 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:10831941|REF_RGD_ID:2314175 12185951 CD14 CD14 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:733890 D RGD:9068941 20200609 RGD PMID:14614560|REF_RGD_ID:2314173 12185957 POLR3GL RNA polymerase III subunit GL gene DOID:0111027 hemochromatosis type 2A ISO RGD:1353647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 2A PMID:28492532 12185957 POLR3GL RNA polymerase III subunit GL gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1353647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 12185957 POLR3GL RNA polymerase III subunit GL gene DOID:1540 parathyroid carcinoma ISO RGD:1353647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12185957 POLR3GL RNA polymerase III subunit GL gene DOID:5419 schizophrenia ISO RGD:1353647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12185957 POLR3GL RNA polymerase III subunit GL gene DOID:630 genetic disease ISO RGD:1353647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185957 POLR3GL RNA polymerase III subunit GL gene DOID:9000738 SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY ISO RGD:1353647 D RGD:7240710 20210421 OMIM 12185957 POLR3GL RNA polymerase III subunit GL gene DOID:9000738 SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY ISO RGD:1353647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature, oligodontia, dysmorphic facies, and motor delay PMID:31089205|PMID:31695177 12185957 POLR3GL RNA polymerase III subunit GL gene DOID:9007661 Dwarfism ISO RGD:1353647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:31089205 12185957 POLR3GL RNA polymerase III subunit GL gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12185972 ETV3L ETS variant transcription factor 3 like gene DOID:1540 parathyroid carcinoma ISO RGD:1603450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12185972 ETV3L ETS variant transcription factor 3 like gene DOID:630 genetic disease ISO RGD:1603450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12185972 ETV3L ETS variant transcription factor 3 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:0050864 non-arteritic anterior ischemic optic neuropathy ISO RGD:1321026 D RGD:7240710 20230517 OMIM 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:0050941 spastic ataxia 2 ISO RGD:1321026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:0060903 thrombosis ISO RGD:1321026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17334511 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:0081250 CIC-rearranged sarcoma ISO RGD:1321026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CIC-DUX Sarcoma PMID:25741868|PMID:28492532 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:1321026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:0111056 platelet-type bleeding disorder 3 ISO RGD:1321026 D RGD:7240710 20230517 OMIM 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:0111056 platelet-type bleeding disorder 3 ISO RGD:1321026 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pseudo von Willebrand disease PMID:2052556|PMID:25741868|PMID:31064749|PMID:34355501|PMID:8384898|PMID:8486780 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:0111059 Bernard-Soulier syndrome type A2 ISO RGD:1321026 D RGD:7240710 20230517 OMIM 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:0111059 Bernard-Soulier syndrome type A2 ISO RGD:1321026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A2, autosomal dominant PMID:10089893|PMID:10235425|PMID:11054083|PMID:11222377|PMID:1694864|PMID:1730088|PMID:18065693|PMID:19067792|PMID:21933849|PMID:25370924|PMID:25741868|PMID:28492532|PMID:28983057|PMID:29082515|PMID:30349881|PMID:30908598|PMID:31064749|PMID:32757236|PMID:34355501|PMID:7690774|PMID:7855797|PMID:9326229|PMID:9326230 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:10763 hypertension ISO RGD:1321026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:11713 diabetic angiopathy ISO RGD:1321026 D RGD:9068941 20200609 RGD PMID:21411989|REF_RGD_ID:7242686 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:1184 nephrotic syndrome ISO RGD:1321026 D RGD:9068941 20200609 RGD protein: reduced expression: : PMID:12185480|REF_RGD_ID:7242688 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:1588 thrombocytopenia ISO RGD:1321026 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:29082515|PMID:31064749|PMID:34355501|PMID:8384898 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:1725 peritoneum cancer sexual_dimorphism ISO RGD:1321026 D RGD:9068941 20210625 RGD associated with stomach cancer;protein:altered expression:peritoneum (human) PMID:32724431|REF_RGD_ID:42722625 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:2213 hemorrhagic disease ISO RGD:1321026 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1321026 D RGD:7240710 20230517 OMIM 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1321026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bernard Soulier syndrome PMID:10089893|PMID:10996832|PMID:11054083|PMID:18065693|PMID:25370924|PMID:25741868|PMID:28492532|PMID:28748566|PMID:28983057|PMID:29232918|PMID:30349881|PMID:32757236|PMID:34355501|PMID:7579348|PMID:7855797|PMID:8950770|PMID:9233564|PMID:9326229|PMID:9326230|PMID:9639514 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:2217 Bernard-Soulier syndrome treatment ISO RGD:1321026 D RGD:9068941 20200609 RGD PMID:22044935|REF_RGD_ID:10450833 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:2316 brain ischemia exacerbates ISO RGD:1321027 D RGD:9068941 20210312 RGD associated with Pneumococcal Infections PMID:24644058|REF_RGD_ID:42722626 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:5082 liver cirrhosis treatment ISO RGD:1321026 D RGD:9068941 20210312 RGD PMID:31851564|REF_RGD_ID:42722628 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:5844 myocardial infarction ISO RGD:1321026 D RGD:9068941 20200609 RGD PMID:15269835|REF_RGD_ID:1580432 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:630 genetic disease ISO RGD:1321026 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:784 chronic kidney disease exacerbates ISO RGD:1321026 D RGD:9068941 20210312 RGD PMID:11314805|REF_RGD_ID:42722629 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:8283 peritonitis exacerbates ISO RGD:1321027 D RGD:9068941 20210312 RGD PMID:20716766|REF_RGD_ID:42722627 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:874 bacterial pneumonia exacerbates ISO RGD:1321027 D RGD:9068941 20210312 RGD associated with Escherichia Coli Infections PMID:27845343|REF_RGD_ID:42722624 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1321027 D RGD:9068941 20200609 RGD PMID:16861348|REF_RGD_ID:10450841 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:9000528 Coronary Disease ISO RGD:1321026 D RGD:9068941 20200609 RGD PMID:14592833|REF_RGD_ID:1580433 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:9000965 Neoplasm Metastasis ISO RGD:1321027 D RGD:9068941 20200609 RGD associated with Melanoma, Experimental PMID:19727118|REF_RGD_ID:10450866 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:9001249 Bernard-Soulier Syndrome, Type A ISO RGD:1321026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A1 PMID:10235425|PMID:11222377|PMID:1694864|PMID:1901273|PMID:19067792|PMID:21933849|PMID:2308962|PMID:25741868|PMID:28492532|PMID:28983057|PMID:34355501|PMID:7690774|PMID:7855797|PMID:9233564|PMID:9639514 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:9002406 Bernard-Soulier Syndrome, Autosomal Dominant ISO RGD:1321026 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.A156V (515C>T) (human) PMID:11222377|REF_RGD_ID:10450832 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:9002406 Bernard-Soulier Syndrome, Autosomal Dominant ISO RGD:1321026 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.N41H (169A>C) (human) PMID:18815197|REF_RGD_ID:10450842 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:9002522 Embolism susceptibility ISO RGD:1321026 D RGD:9068941 20210312 RGD associated with infective endocarditis;DNA:repeat:CDS:(human) PMID:23611001|REF_RGD_ID:42722623 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:9003168 Diarrhea prodrome + Hemolytic-Uremic Syndrome ISO RGD:1321026 D RGD:9068941 20210312 RGD associated with Escherichia Coli Infections;DNA:SNP:exon: (rs121908064) (human) PMID:29216383|REF_RGD_ID:42722620 12186003 GP1BA glycoprotein Ib platelet subunit alpha gene DOID:9004484 Sepsis exacerbates ISO RGD:1321027 D RGD:9068941 20210312 RGD associated with thrombocytopenia PMID:24150174|REF_RGD_ID:42722621 12186007 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:14671 multiple intestinal atresia ISO RGD:1350244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple gastrointestinal atresias PMID:23830146|PMID:24292712|PMID:25741868|PMID:28492532 12186007 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:1588 thrombocytopenia ISO RGD:1350244 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 12186007 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:2213 hemorrhagic disease ISO RGD:1350244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 12186007 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:224 transient cerebral ischemia ISO RGD:628690 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:17610559|REF_RGD_ID:11062141 12186007 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:3883 Lynch syndrome ISO RGD:1350244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12186007 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:627 severe combined immunodeficiency ISO RGD:1350244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 12186007 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:630 genetic disease ISO RGD:1350244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186007 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:9000717 Familial Multiple Coagulation Factor Deficiency I ISO RGD:1350244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FMFD I PMID:12717434|PMID:13229969|PMID:25741868|PMID:31064749 12186007 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:9007584 Von Willebrand Factor, Deficiency ISO RGD:1350244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Reduced von Willebrand factor activity PMID:32581362 12186007 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:9008839 Factor V and Factor VIII, Combined Deficiency of, 2 ISO RGD:1350244 D RGD:7240710 20180130 OMIM 12186007 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:9008839 Factor V and Factor VIII, Combined Deficiency of, 2 ISO RGD:1350244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor v and factor viii, combined deficiency of, 2 PMID:12717434|PMID:13229969|PMID:18391077|PMID:25741868|PMID:31064749 12186018 RPS9 ribosomal protein S9 gene DOID:630 genetic disease ISO RGD:734165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186018 RPS9 ribosomal protein S9 gene DOID:9007874 Liver Failure ISO RGD:619889 D RGD:9068941 20200609 RGD PMID:501300|REF_RGD_ID:11040911 12186027 C21H11orf58 chromosome 21 C11orf58 homolog gene DOID:1059 intellectual disability ISO RGD:1605695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12186036 NUP58 nucleoporin 58 gene DOID:630 genetic disease ISO RGD:1353907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186062 SFTPC surfactant protein C gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:736728 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:14735158|PMID:15039969|PMID:15516475|PMID:15709974|PMID:18383112|PMID:19443464|PMID:19910179|PMID:22308375|PMID:23025826|PMID:23775869|PMID:24033266|PMID:24081995|PMID:24347114|PMID:25657025|PMID:25741868|PMID:25782673|PMID:27362365|PMID:28492532 12186062 SFTPC surfactant protein C gene DOID:0050158 desquamative interstitial pneumonia ISO RGD:733829 D RGD:9068941 20220825 MouseDO OMIM:263000 12186062 SFTPC surfactant protein C gene DOID:0110342 osteogenesis imperfecta type 13 ISO RGD:736728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii 12186062 SFTPC surfactant protein C gene DOID:11339 pneumocystosis ISO RGD:733829 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:11385364|REF_RGD_ID:4143431 12186062 SFTPC surfactant protein C gene DOID:11394 adult respiratory distress syndrome ISO RGD:736728 D RGD:9068941 20200609 RGD PMID:9720777|REF_RGD_ID:4144159 12186062 SFTPC surfactant protein C gene DOID:11394 adult respiratory distress syndrome ISO RGD:736728 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:17662121|REF_RGD_ID:4143379 12186062 SFTPC surfactant protein C gene DOID:11612 polycystic ovary syndrome ISO RGD:736728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12186062 SFTPC surfactant protein C gene DOID:12053 cryptococcosis ISO RGD:733829 D RGD:9068941 20200827 RGD mRNA:increased expression:lung (mouse) PMID:27596810|REF_RGD_ID:38549345 12186062 SFTPC surfactant protein C gene DOID:12347 osteogenesis imperfecta ISO RGD:736728 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive PMID:24033266|PMID:25741868|PMID:28492532 12186062 SFTPC surfactant protein C gene DOID:12716 newborn respiratory distress syndrome ISO RGD:3666 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:11504697|REF_RGD_ID:4143428 12186062 SFTPC surfactant protein C gene DOID:12716 newborn respiratory distress syndrome ISO RGD:736728 D RGD:9068941 20200609 RGD protein:altered processing:amniotic fluid, lung PMID:7537464|REF_RGD_ID:4144127 12186062 SFTPC surfactant protein C gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:733829 D RGD:9068941 20200609 RGD PMID:19304906|REF_RGD_ID:4144065 12186062 SFTPC surfactant protein C gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:polymorphism: :138A>C, 186A>G (human) PMID:17121584|REF_RGD_ID:4144116 12186062 SFTPC surfactant protein C gene DOID:1485 cystic fibrosis ISO RGD:736728 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15271694|REF_RGD_ID:4143403 12186062 SFTPC surfactant protein C gene DOID:2841 asthma ISO RGD:733829 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:11472974|REF_RGD_ID:4143465 12186062 SFTPC surfactant protein C gene DOID:2841 asthma ISO RGD:736728 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:16629790|REF_RGD_ID:4143462 12186062 SFTPC surfactant protein C gene DOID:2841 asthma susceptibility ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A53T (human) PMID:19910179|REF_RGD_ID:4144063 12186062 SFTPC surfactant protein C gene DOID:3082 interstitial lung disease ISO RGD:733829 D RGD:9068941 20200609 RGD PMID:12519727|REF_RGD_ID:4143413 12186062 SFTPC surfactant protein C gene DOID:3082 interstitial lung disease ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.I73T (human) PMID:15756222|REF_RGD_ID:4143400 12186062 SFTPC surfactant protein C gene DOID:3082 interstitial lung disease ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:mutations: :multiple (human) PMID:19443464|REF_RGD_ID:4144064 12186062 SFTPC surfactant protein C gene DOID:3082 interstitial lung disease ISO RGD:736728 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:11445799|REF_RGD_ID:4143430 12186062 SFTPC surfactant protein C gene DOID:3082 interstitial lung disease susceptibility ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.N186S (human) PMID:16423270|REF_RGD_ID:4144126 12186062 SFTPC surfactant protein C gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:polymorphism: :186A>G (human) PMID:18038590|REF_RGD_ID:4144115 12186062 SFTPC surfactant protein C gene DOID:3770 pulmonary fibrosis ISO RGD:736728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:15039969|PMID:15293602|PMID:15572558|PMID:15756222|PMID:17597647|PMID:19443464|PMID:21092132|PMID:21707890|PMID:22308375|PMID:25657025|PMID:25741868|PMID:27362365|PMID:28492532|PMID:31081264 12186062 SFTPC surfactant protein C gene DOID:3770 pulmonary fibrosis susceptibility ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.M71V, p.I73T (human) PMID:20656946|REF_RGD_ID:4144060 12186062 SFTPC surfactant protein C gene DOID:3910 lung adenocarcinoma ISO RGD:736728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25851810 12186062 SFTPC surfactant protein C gene DOID:423 myopathy ISO RGD:736728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 12186062 SFTPC surfactant protein C gene DOID:552 pneumonia ISO RGD:733829 D RGD:9068941 20200609 RGD PMID:15967375|REF_RGD_ID:4143394 12186062 SFTPC surfactant protein C gene DOID:630 genetic disease ISO RGD:736728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22308375 12186062 SFTPC surfactant protein C gene DOID:850 lung disease ISO RGD:736728 D RGD:9068941 20200609 RGD Acute Lung Injury;mRNA:increased expression:pneumocyte PMID:8569184|REF_RGD_ID:4143451 12186062 SFTPC surfactant protein C gene DOID:850 lung disease ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.I73T (human) PMID:16910460|REF_RGD_ID:4144117 12186062 SFTPC surfactant protein C gene DOID:850 lung disease ISO RGD:736728 D RGD:9068941 20200609 RGD surfactant metabolism dysfunction SMDP2,OMIM:610913;DNA:point mutation:intron:460+1G>A (human) PMID:11207353|REF_RGD_ID:1624153 12186062 SFTPC surfactant protein C gene DOID:850 lung disease ISO RGD:737198 D RGD:9068941 20200609 RGD Lung Injury PMID:11796659|REF_RGD_ID:4143420 12186062 SFTPC surfactant protein C gene DOID:874 bacterial pneumonia ISO RGD:3666 D RGD:9068941 20200609 RGD PMID:12169586|REF_RGD_ID:4143464 12186062 SFTPC surfactant protein C gene DOID:874 bacterial pneumonia ISO RGD:733829 D RGD:9068941 20200609 RGD PMID:18566429|REF_RGD_ID:4144114 12186062 SFTPC surfactant protein C gene DOID:9000613 Hyaline Membrane Disease ISO RGD:736728 D RGD:9068941 20200609 RGD PMID:9655740|REF_RGD_ID:4143444 12186062 SFTPC surfactant protein C gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:733829 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:14748931|REF_RGD_ID:4143407 12186062 SFTPC surfactant protein C gene DOID:9001026 Pulmonary Surfactant Metabolism Dysfunction 1 ISO RGD:736728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1 PMID:25741868 12186062 SFTPC surfactant protein C gene DOID:9003953 Surfactant Dysfunction ISO RGD:736728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction PMID:11893657|PMID:14735158|PMID:15039969|PMID:15293602|PMID:15516475|PMID:15557112|PMID:15572558|PMID:15709974|PMID:15756222|PMID:17597647|PMID:18383112|PMID:19443464|PMID:19910179|PMID:20403820|PMID:20463293|PMID:20658481|PMID:21092132|PMID:21707890|PMID:22308375|PMID:22458263|PMID:23775869|PMID:24033266|PMID:24081995|PMID:24347114|PMID:25657025|PMID:25741868|PMID:27362365|PMID:28157837|PMID:28492532|PMID:29805340|PMID:31081264 12186062 SFTPC surfactant protein C gene DOID:9004009 Reperfusion Injury ISO RGD:3666 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:20560845|REF_RGD_ID:4144062 12186062 SFTPC surfactant protein C gene DOID:9005976 Pulmonary Surfactant Metabolism Dysfunction 2 ISO RGD:736728 D RGD:7240710 20180130 OMIM 12186062 SFTPC surfactant protein C gene DOID:9005976 Pulmonary Surfactant Metabolism Dysfunction 2 ISO RGD:736728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2 PMID:11207353|PMID:11893657|PMID:11991887|PMID:12538769|PMID:13817571|PMID:14735158|PMID:15039969|PMID:15293602|PMID:15516475|PMID:15572558|PMID:15647591|PMID:15709974|PMID:15756222|PMID:17597647|PMID:18383112|PMID:19443464|PMID:19910179|PMID:20403820|PMID:20658481|PMID:21092132|PMID:21707890|PMID:22308375|PMID:23025826|PMID:23166334|PMID:23775869|PMID:24033266|PMID:24081995|PMID:24347114|PMID:25105258|PMID:25657025|PMID:25741868|PMID:25782673|PMID:27362365|PMID:28492532|PMID:29554876|PMID:31081264|PMID:5942662 12186062 SFTPC surfactant protein C gene DOID:9007480 Hyperoxia ISO RGD:3666 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:11472975|REF_RGD_ID:4143429 12186062 SFTPC surfactant protein C gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:736728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12186062 SFTPC surfactant protein C gene DOID:9009073 Diaphragmatic Hernia ISO RGD:736728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10751355 12186062 SFTPC surfactant protein C gene DOID:9675 pulmonary emphysema susceptibility ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:polymorphism: :138A>C, 186A>G (human) PMID:18038590|REF_RGD_ID:4144115 12186075 CD69 CD69 molecule gene DOID:630 genetic disease ISO RGD:1351395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186075 CD69 CD69 molecule gene DOID:848 arthritis ISO RGD:1351395 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12882836 12186075 CD69 CD69 molecule gene DOID:9002457 Experimental Arthritis ISO RGD:1351395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12882836 12186075 CD69 CD69 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:1351395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12186075 CD69 CD69 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:1351395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430480 12186084 DNAJC10 DnaJ heat shock protein family (Hsp40) member C10 gene DOID:14566 disease of cellular proliferation ISO RGD:1317224 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17353921 12186084 DNAJC10 DnaJ heat shock protein family (Hsp40) member C10 gene DOID:630 genetic disease ISO RGD:1317224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186084 DNAJC10 DnaJ heat shock protein family (Hsp40) member C10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1317224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:2049575|PMID:21086191|PMID:24033266|PMID:25637381|PMID:25741868|PMID:25758994|PMID:25846194|PMID:27011056|PMID:27964749|PMID:28492532|PMID:28748566|PMID:30374176 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:0050827 rheumatic heart disease ISO RGD:71029 D RGD:9068941 20230202 RGD mRNA:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:0050851 glomerulosclerosis ISO RGD:71029 D RGD:9068941 20200609 RGD PMID:20610530|REF_RGD_ID:7257557 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:0050855 renal fibrosis ISO RGD:732584 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:23224993|REF_RGD_ID:7257551 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:0111944 immunodeficiency 31B ISO RGD:737225 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:10763 hypertension ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11682445 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:11372 megacolon ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:11664 nephrosclerosis ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:12932 endomyocardial fibrosis ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11300427 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:737225 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:737225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:18272325|PMID:19424605|PMID:2049575|PMID:21086191|PMID:21984974|PMID:22001912|PMID:22019127|PMID:2235526|PMID:24033266|PMID:24036952|PMID:24055113|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:27011056|PMID:27888582|PMID:27964749|PMID:28492532|PMID:28748566|PMID:29192238|PMID:30115950|PMID:30374176|PMID:30837697|PMID:31141158|PMID:8514866|PMID:9036918|PMID:9399899 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:13619 extrahepatic cholestasis ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:13948 bladder neck obstruction treatment ISO RGD:71029 D RGD:9068941 20200609 RGD PMID:23313213|REF_RGD_ID:7257549 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10706896|PMID:16199547|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19344236|PMID:19424605|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21984974|PMID:22001912|PMID:22019127|PMID:2235526|PMID:23148498|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24922459|PMID:24951259|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27153395|PMID:27306637|PMID:27888582|PMID:27964749|PMID:28087566|PMID:28492532|PMID:28655553|PMID:28748566|PMID:29543232|PMID:29590070|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30374176|PMID:30379966|PMID:30793832|PMID:30919682|PMID:31075413|PMID:31126764|PMID:31531849|PMID:31719132|PMID:7695699|PMID:8218237|PMID:8514866|PMID:8990011|PMID:9536098 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:737225 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10706896|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19344236|PMID:19424605|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21984974|PMID:22001912|PMID:22019127|PMID:2235526|PMID:23148498|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24922459|PMID:24951259|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27153395|PMID:27888582|PMID:27964749|PMID:28087566|PMID:28166811|PMID:28492532|PMID:28748566|PMID:29590070|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30374176|PMID:30379966|PMID:31075413|PMID:31531849|PMID:31719132|PMID:33282382|PMID:7695699|PMID:8218237|PMID:8514866|PMID:8990011|PMID:9536098 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:737225 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27153395|PMID:27168972|PMID:27488172|PMID:27888582|PMID:27964749|PMID:28035354|PMID:28087566|PMID:28166811|PMID:28492532|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29510914|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30793832|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31833208|PMID:31903434|PMID:32483363|PMID:33087929|PMID:33282382|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:737225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:28035354|PMID:28087566|PMID:28492532|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30793832|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31833208|PMID:31903434|PMID:32483363|PMID:33087929|PMID:33282382|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:737225 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:28035354|PMID:28087566|PMID:28492532|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29485843|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30793832|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31833208|PMID:31903434|PMID:32483363|PMID:33087929|PMID:33282382|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:14018 alcoholic liver cirrhosis ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:14323 Marfan syndrome ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:20648054|PMID:22696272|PMID:23587214|PMID:24922459|PMID:28492532 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:14756 vascular type Ehlers-Danlos syndrome ISO RGD:737225 D RGD:7240710 20180620 OMIM 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:14756 vascular type Ehlers-Danlos syndrome ISO RGD:737225 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, arterial type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, ecchymotic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome vascular type PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:20052764|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:28035354|PMID:28087566|PMID:28492532|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30793832|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31903434|PMID:32483363|PMID:33087929|PMID:33282382|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8881656|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:14757 Ehlers-Danlos syndrome hypermobility type ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome, Hypermobility Type PMID:25741868|PMID:25758994|PMID:26854089|PMID:28087566|PMID:28492532|PMID:29590070|PMID:30087447|PMID:31075413|PMID:31531849 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:1826 epilepsy ISO RGD:737225 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:2018 hyperinsulinism ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20836762 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:3627 aortic aneurysm ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm PMID:24055113|PMID:25637381|PMID:25741868|PMID:28492532 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:3770 pulmonary fibrosis ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26817844 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:3770 pulmonary fibrosis disease_progression ISO RGD:732584 D RGD:9068941 20200619 RGD associated with Middle East respiratory syndrome; PMID:31838832|REF_RGD_ID:30309204 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:409 liver disease ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11738102 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:418 systemic scleroderma ISO RGD:732584 D RGD:9068941 20220825 MouseDO OMIM:181750 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:4195 hyperglycemia ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20836762 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:5082 liver cirrhosis ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11167689|PMID:15787813|PMID:16679477|PMID:1880254|PMID:2566230 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:5199 ureteral obstruction ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17164399 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:520 aortic disease ISO RGD:737225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:10706896|PMID:18272325|PMID:19344236|PMID:24033266|PMID:24922459|PMID:25741868|PMID:25758994|PMID:28492532|PMID:7695699|PMID:8218237 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:5419 schizophrenia ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:57 aortic valve insufficiency ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:5844 myocardial infarction treatment ISO RGD:71029 D RGD:9068941 20200609 RGD PMID:25636075|REF_RGD_ID:11041598 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:630 genetic disease ISO RGD:737225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1556139|PMID:16199547|PMID:17576681|PMID:24922459|PMID:25741868|PMID:27153395|PMID:28492532|PMID:30379966|PMID:9536098 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:65 connective tissue disease ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:2049575|PMID:21086191|PMID:21984974|PMID:22001912|PMID:24033266|PMID:24036952|PMID:24055113|PMID:25637381|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:26017485|PMID:26332594|PMID:27011056|PMID:27888582|PMID:27964749|PMID:28492532|PMID:28748566|PMID:30115950|PMID:30374176 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:783 end stage renal disease ISO RGD:737225 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.I1205V (human) PMID:19424605|REF_RGD_ID:7257553 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:9000058 Keloid ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:9000784 Fibrosis ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388698 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:9000808 Hypercholesterolemia ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21852083 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:9000950 Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome ISO RGD:737225 D RGD:7240710 20190315 OMIM 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:9000950 Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome ISO RGD:737225 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome PMID:11577371|PMID:12131463|PMID:17576681|PMID:18272325|PMID:19344236|PMID:19455184|PMID:2049575|PMID:21086191|PMID:21984974|PMID:2235526|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24922459|PMID:25205403|PMID:25637381|PMID:25741868|PMID:25758994|PMID:25834947|PMID:25846194|PMID:26017485|PMID:26332594|PMID:27011056|PMID:27964749|PMID:28258187|PMID:28492532|PMID:28742248|PMID:28748566|PMID:29192238|PMID:29650765|PMID:30374176|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31719132|PMID:7695699|PMID:8218237|PMID:9050868|PMID:9536098 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:9000955 Acute Otitis Media ISO RGD:8821097 D RGD:9068941 20200609 RGD PMID:10453785|REF_RGD_ID:11556224 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:9001287 Ehlers-Danlos Syndrome Type 4 ISO RGD:737225 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:10051163|PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:11577371|PMID:12131463|PMID:12488462|PMID:12694234|PMID:12786757|PMID:1352273|PMID:1357232|PMID:1370809|PMID:1496983|PMID:1556139|PMID:1568754|PMID:1619632|PMID:16199547|PMID:1672129|PMID:16751282|PMID:16863833|PMID:17053184|PMID:17122455|PMID:17224388|PMID:17251678|PMID:17576681|PMID:1757960|PMID:18043893|PMID:18272325|PMID:1895316|PMID:19011090|PMID:19248182|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19695909|PMID:1998337|PMID:19993915|PMID:2002056|PMID:20052764|PMID:2049575|PMID:20518783|PMID:20648054|PMID:21086191|PMID:2145268|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22038052|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22610159|PMID:22647446|PMID:22696272|PMID:22713205|PMID:23148498|PMID:23234825|PMID:23293852|PMID:2349939|PMID:23587214|PMID:2365710|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:2492273|PMID:24932165|PMID:24951259|PMID:25149929|PMID:25205403|PMID:25326637|PMID:25355833|PMID:25503501|PMID:25525159|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:2583342|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26497932|PMID:26854089|PMID:27011056|PMID:2710295|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27611364|PMID:2771024|PMID:27888582|PMID:27964749|PMID:28035354|PMID:2808425|PMID:28087566|PMID:28166811|PMID:28258187|PMID:2834369|PMID:28349240|PMID:28492532|PMID:28655553|PMID:28742248|PMID:28748566|PMID:29192238|PMID:29216800|PMID:29309923|PMID:29346445|PMID:29381997|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:2981879|PMID:29907982|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30675029|PMID:3076851|PMID:30793832|PMID:30837697|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:3162228|PMID:31719132|PMID:31903434|PMID:3204406|PMID:32483363|PMID:33087929|PMID:33282382|PMID:34047934|PMID:6477831|PMID:6507506|PMID:7230200|PMID:7581395|PMID:7665911|PMID:7695699|PMID:7749417|PMID:7912131|PMID:8098182|PMID:8218237|PMID:8320698|PMID:8477261|PMID:8514866|PMID:8664902|PMID:8680408|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9147870|PMID:9399899|PMID:9536098|PMID:9546243|PMID:9841712 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arterial dissection PMID:17576681|PMID:28166811|PMID:28492532|PMID:9536098 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11788567|PMID:25380136 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:9001665 Aneurysm ISO RGD:737225 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS20+1G>A (human) PMID:2349939|REF_RGD_ID:1300382 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:9003139 Cardiac Fibrosis ISO RGD:71029 D RGD:9068941 20230225 RGD protein:increased expression:blood serum (rat) PMID:27318893|REF_RGD_ID:156430318 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:9004283 Transplant Rejection ISO RGD:737225 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:20150539|REF_RGD_ID:7248773 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:9004563 Maxillofacial Abnormalities ISO RGD:71029 D RGD:9068941 20200609 RGD PMID:10373016|REF_RGD_ID:704391 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181017 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:9005890 Disproportionate Tall Stature ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:9006325 Ventral Hernia treatment ISO RGD:71029 D RGD:9068941 20200609 RGD PMID:26578432|REF_RGD_ID:11041579 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:9006827 Lung Reperfusion Injury ISO RGD:732584 D RGD:9068941 20220915 RGD mRNA:increased expression:lung (mouse) PMID:34238924|REF_RGD_ID:153350155 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:9006836 Contracture treatment ISO RGD:71029 D RGD:9068941 20200609 RGD PMID:26097527|REF_RGD_ID:11041578 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16679477 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:737225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AAT1 PMID:19344236|PMID:24922459|PMID:25758994|PMID:28492532|PMID:7695699|PMID:8218237 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:9009005 Familial Thoracic Aortic Aneurysm 2 ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:9352 type 2 diabetes mellitus ISO RGD:71029 D RGD:9068941 20200609 RGD PMID:20836762|REF_RGD_ID:7257556 12186118 COL3A1 collagen type III alpha 1 chain gene DOID:9452 fatty liver disease ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15787813 12186173 AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:1603320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:36647049 12186173 AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 gene DOID:0080600 COVID-19 ISO RGD:1603320 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12186173 AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 gene DOID:3883 Lynch syndrome ISO RGD:1603320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18602922|PMID:18809606|PMID:20205264|PMID:21376568|PMID:24068316|PMID:24362816|PMID:28492532 12186173 AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 gene DOID:630 genetic disease ISO RGD:1603320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12186173 AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868|PMID:29215095 12186173 AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 gene DOID:9009183 Hypomyelinating Leukodystrophy 17 ISO RGD:1603320 D RGD:7240710 20190315 OMIM 12186173 AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 gene DOID:9009183 Hypomyelinating Leukodystrophy 17 ISO RGD:1603320 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17 PMID:25741868|PMID:28492532|PMID:29215095 12186185 ZBTB14 zinc finger and BTB domain containing 14 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1345499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12186185 ZBTB14 zinc finger and BTB domain containing 14 gene DOID:1059 intellectual disability ISO RGD:1345499 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12186185 ZBTB14 zinc finger and BTB domain containing 14 gene DOID:630 genetic disease ISO RGD:1345499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186203 CYP46A1 cytochrome P450 family 46 subfamily A member 1 gene DOID:10652 Alzheimer's disease ISO RGD:1315314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19286353 12186203 CYP46A1 cytochrome P450 family 46 subfamily A member 1 gene DOID:10652 Alzheimer's disease ISO RGD:1315314 D RGD:9068941 20200609 RGD PMID:12232784|REF_RGD_ID:1358575 12186203 CYP46A1 cytochrome P450 family 46 subfamily A member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1315314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 12186203 CYP46A1 cytochrome P450 family 46 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1315314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186222 ARL9 ADP ribosylation factor like GTPase 9 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1606161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:28492532 12186222 ARL9 ADP ribosylation factor like GTPase 9 gene DOID:630 genetic disease ISO RGD:1606161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186236 KRIT1 KRIT1 ankyrin repeat containing gene DOID:0060669 cerebral cavernous malformation ISO RGD:1314251 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation PMID:10508515|PMID:10545614|PMID:10814716|PMID:11161805|PMID:11222804|PMID:11914398|PMID:11941540|PMID:11959162|PMID:12404106|PMID:12810002|PMID:12854741|PMID:14755725|PMID:15079030|PMID:16199547|PMID:16321204|PMID:16571644|PMID:17277691|PMID:17440989|PMID:17576681|PMID:18300272|PMID:18380023|PMID:18383588|PMID:19088123|PMID:19099113|PMID:19454328|PMID:19763152|PMID:20301470|PMID:20306072|PMID:20307669|PMID:20419355|PMID:21029238|PMID:22406018|PMID:23584803|PMID:23595507|PMID:24401931|PMID:24466005|PMID:24689081|PMID:24721395|PMID:25525159|PMID:25525273|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26682556|PMID:27766163|PMID:27792856|PMID:28000143|PMID:28492532|PMID:28645800|PMID:28745674|PMID:28867399|PMID:29593473|PMID:30161288|PMID:31124307|PMID:31254430|PMID:33891857|PMID:33911302|PMID:3393196|PMID:34634677|PMID:34964173|PMID:7898703|PMID:9065560|PMID:9536098 12186236 KRIT1 KRIT1 ankyrin repeat containing gene DOID:0060669 cerebral cavernous malformation susceptibility ISO RGD:1314251 D RGD:9068941 20200609 RGD PMID:15079030|REF_RGD_ID:1598379 12186236 KRIT1 KRIT1 ankyrin repeat containing gene DOID:0080491 cerebral cavernous malformation 1 ISO RGD:1314251 D RGD:7240710 20190227 OMIM 12186236 KRIT1 KRIT1 ankyrin repeat containing gene DOID:0080491 cerebral cavernous malformation 1 ISO RGD:1314251 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 1 PMID:10508515|PMID:10545614|PMID:10814716|PMID:11222804|PMID:11914398|PMID:11941540|PMID:12404106|PMID:12854741|PMID:14755725|PMID:16571644|PMID:17562932|PMID:19088123|PMID:19454328|PMID:20301470|PMID:24401931|PMID:24689081|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29593473|PMID:3393196|PMID:7898703|PMID:9065560 12186236 KRIT1 KRIT1 ankyrin repeat containing gene DOID:1826 epilepsy ISO RGD:1314251 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12186236 KRIT1 KRIT1 ankyrin repeat containing gene DOID:2843 long QT syndrome ISO RGD:1314251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12186236 KRIT1 KRIT1 ankyrin repeat containing gene DOID:483 cavernous hemangioma ISO RGD:1314251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cavernous hemangioma PMID:10508515|PMID:10545614|PMID:11222804|PMID:12404106|PMID:23595507|PMID:24466005|PMID:24689081|PMID:25741868|PMID:28492532 12186236 KRIT1 KRIT1 ankyrin repeat containing gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12186236 KRIT1 KRIT1 ankyrin repeat containing gene DOID:630 genetic disease ISO RGD:1314251 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25525273|PMID:25741868|PMID:28492532|PMID:9536098 12186236 KRIT1 KRIT1 ankyrin repeat containing gene DOID:8725 vascular dementia ISO RGD:1314251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:33268848 12186236 KRIT1 KRIT1 ankyrin repeat containing gene DOID:9000043 Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas ISO RGD:1314251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas PMID:20419355|PMID:25525273|PMID:25741868|PMID:26467025|PMID:28492532 12186236 KRIT1 KRIT1 ankyrin repeat containing gene DOID:9002924 Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations ISO RGD:1314251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations PMID:10814716 12186236 KRIT1 KRIT1 ankyrin repeat containing gene DOID:9008078 Cavernous Malformations of CNS and Retina ISO RGD:1314251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cavernous malformations of CNS and retina PMID:11831930 12186268 ZNF772 zinc finger protein 772 gene DOID:10283 prostate cancer ISO RGD:1606077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12186268 ZNF772 zinc finger protein 772 gene DOID:630 genetic disease ISO RGD:1606077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186279 SEMA3G semaphorin 3G gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1601989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12186279 SEMA3G semaphorin 3G gene DOID:630 genetic disease ISO RGD:1601989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186299 MLLT1 MLLT1 super elongation complex subunit gene DOID:2154 nephroblastoma ISO RGD:1345161 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 12186299 MLLT1 MLLT1 super elongation complex subunit gene DOID:630 genetic disease ISO RGD:1345161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186299 MLLT1 MLLT1 super elongation complex subunit gene DOID:9003133 Hypertelorism ISO RGD:1345161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism 12186315 POU6F1 POU class 6 homeobox 1 gene DOID:630 genetic disease ISO RGD:731653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186343 RACGAP1 Rac GTPase activating protein 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1314228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12186343 RACGAP1 Rac GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1314228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186343 RACGAP1 Rac GTPase activating protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1314228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12186343 RACGAP1 Rac GTPase activating protein 1 gene DOID:9002225 Congenital Dyserythropoietic Anemia Type IIIb ISO RGD:1314228 D RGD:7240710 20220330 OMIM 12186343 RACGAP1 Rac GTPase activating protein 1 gene DOID:9002225 Congenital Dyserythropoietic Anemia Type IIIb ISO RGD:1314228 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive PMID:34818416|PMID:36200420 12186377 CETN3 centrin 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733085 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12186377 CETN3 centrin 3 gene DOID:630 genetic disease ISO RGD:733085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186377 CETN3 centrin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12186377 CETN3 centrin 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733085 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12186391 LOC489851 cytochrome P450 3A12-like gene DOID:630 genetic disease ISO RGD:9685972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186420 CARMIL3 capping protein regulator and myosin 1 linker 3 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1349280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12186420 CARMIL3 capping protein regulator and myosin 1 linker 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1349280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12186420 CARMIL3 capping protein regulator and myosin 1 linker 3 gene DOID:630 genetic disease ISO RGD:1349280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186420 CARMIL3 capping protein regulator and myosin 1 linker 3 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1349280 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12186420 CARMIL3 capping protein regulator and myosin 1 linker 3 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1349280 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12186475 CUL4B cullin 4B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12186475 CUL4B cullin 4B gene DOID:0060800 syndromic X-linked intellectual disability 5 ISO RGD:1342683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pettigrew syndrome PMID:25741868 12186475 CUL4B cullin 4B gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1342683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 12186475 CUL4B cullin 4B gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1342683 D RGD:7240710 20220427 OMIM 12186475 CUL4B cullin 4B gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1342683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CABEZAS SYNDROME | ClinVar Annotator: match by term: CUL4B-Related Disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 | ClinVar Annotator: match by term: Mental retardation with short stature, hypogonadism and abnormal gait, X-linked PMID:10978355|PMID:17236139|PMID:17273978|PMID:18414213|PMID:25385192|PMID:25741868|PMID:26467025|PMID:28330790|PMID:28492532|PMID:28817236|PMID:8135271 12186475 CUL4B cullin 4B gene DOID:1059 intellectual disability ISO RGD:1342683 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:17236139|PMID:17273978|PMID:25741868|PMID:28492532|PMID:8135271 12186475 CUL4B cullin 4B gene DOID:12849 autistic disorder ISO RGD:1342683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12186475 CUL4B cullin 4B gene DOID:1826 epilepsy ISO RGD:1342683 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:17236139|PMID:17273978|PMID:25741868|PMID:8135271 12186475 CUL4B cullin 4B gene DOID:630 genetic disease ISO RGD:1342683 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10978355|PMID:17236139|PMID:17273978|PMID:19818632|PMID:20002452|PMID:20655035|PMID:21554755|PMID:21816345|PMID:24898194|PMID:25385192|PMID:25741868|PMID:26467025|PMID:26795593|PMID:28492532 12186475 CUL4B cullin 4B gene DOID:9007661 Dwarfism ISO RGD:1342683 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Short stature PMID:17236139|PMID:17273978|PMID:25741868|PMID:8135271 12186475 CUL4B cullin 4B gene DOID:9008086 Developmental Disabilities ISO RGD:1342683 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:17236139|PMID:17273978|PMID:25741868|PMID:8135271 12186510 LPIN2 lipin 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1312114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12186510 LPIN2 lipin 2 gene DOID:0110880 holoprosencephaly 4 ISO RGD:1312114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 4 PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:22125506|PMID:28492532 12186510 LPIN2 lipin 2 gene DOID:0111193 facioscapulohumeral muscular dystrophy 2 ISO RGD:1312114 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 PMID:28492532 12186510 LPIN2 lipin 2 gene DOID:1059 intellectual disability ISO RGD:1312114 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12186510 LPIN2 lipin 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1312114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12186510 LPIN2 lipin 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1312114 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10969284|PMID:15994876|PMID:17576681|PMID:18409191|PMID:19717560|PMID:20032092|PMID:20301735|PMID:20645851|PMID:24033266|PMID:25741868|PMID:26386126|PMID:27860302|PMID:2809904|PMID:28492532|PMID:33670882|PMID:9536098 12186510 LPIN2 lipin 2 gene DOID:630 genetic disease ISO RGD:1312114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12186510 LPIN2 lipin 2 gene DOID:8893 psoriasis ISO RGD:1312114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Psoriasis PMID:25741868|PMID:28492532 12186510 LPIN2 lipin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12186510 LPIN2 lipin 2 gene DOID:9005523 Majeed Syndrome ISO RGD:1312114 D RGD:7240710 20180130 OMIM 12186510 LPIN2 lipin 2 gene DOID:9005523 Majeed Syndrome ISO RGD:1312114 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Majeed syndrome PMID:10969284|PMID:11795677|PMID:15994876|PMID:16199547|PMID:17330256|PMID:17576681|PMID:18409191|PMID:19717560|PMID:20032092|PMID:20301735|PMID:20645851|PMID:23087183|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26386126|PMID:27860302|PMID:2809904|PMID:28492532|PMID:28600779|PMID:29387759|PMID:31598604|PMID:31727123|PMID:33314777|PMID:33670882|PMID:9536098 12186540 OMP olfactory marker protein gene DOID:1059 intellectual disability ISO RGD:734264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12186540 OMP olfactory marker protein gene DOID:630 genetic disease ISO RGD:734264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186546 CNOT1 CCR4-NOT transcription complex subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602129 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12186546 CNOT1 CCR4-NOT transcription complex subunit 1 gene DOID:0060751 familial temporal lobe epilepsy 7 ISO RGD:1602129 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 7 PMID:25741868 12186546 CNOT1 CCR4-NOT transcription complex subunit 1 gene DOID:0080950 alopecia-mental retardation syndrome 4 ISO RGD:1602129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 4 PMID:25741868 12186546 CNOT1 CCR4-NOT transcription complex subunit 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602129 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12186546 CNOT1 CCR4-NOT transcription complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:1602129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12186546 CNOT1 CCR4-NOT transcription complex subunit 1 gene DOID:1826 epilepsy ISO RGD:1602129 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12186546 CNOT1 CCR4-NOT transcription complex subunit 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602129 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12186546 CNOT1 CCR4-NOT transcription complex subunit 1 gene DOID:4621 holoprosencephaly ISO RGD:1602129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:25741868|PMID:28525974|PMID:31006510|PMID:31006513|PMID:32553196 12186546 CNOT1 CCR4-NOT transcription complex subunit 1 gene DOID:630 genetic disease ISO RGD:1602129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 12186546 CNOT1 CCR4-NOT transcription complex subunit 1 gene DOID:9000895 Preterm Intraventricular Hemorrhage ISO RGD:1602129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Preterm intraventricular hemorrhage PMID:25741868 12186546 CNOT1 CCR4-NOT transcription complex subunit 1 gene DOID:9004008 VISSERS-BODMER SYNDROME ISO RGD:1602129 D RGD:7240710 20201223 OMIM 12186546 CNOT1 CCR4-NOT transcription complex subunit 1 gene DOID:9004008 VISSERS-BODMER SYNDROME ISO RGD:1602129 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Vissers-Bodmer syndrome PMID:25741868|PMID:28492532|PMID:32553196 12186546 CNOT1 CCR4-NOT transcription complex subunit 1 gene DOID:9004991 Holoprosencephaly 12 ISO RGD:1602129 D RGD:7240710 20190731 OMIM 12186546 CNOT1 CCR4-NOT transcription complex subunit 1 gene DOID:9004991 Holoprosencephaly 12 ISO RGD:1602129 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CNOT1-Related Disorder | ClinVar Annotator: match by term: Holoprosencephaly 12 with or without pancreatic agenesis PMID:25741868|PMID:28492532|PMID:28525974|PMID:31006510|PMID:31006513|PMID:32553196 12186599 EVX2 even-skipped homeobox 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1348415 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12186599 EVX2 even-skipped homeobox 2 gene DOID:630 genetic disease ISO RGD:1348415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186623 DACT3 dishevelled binding antagonist of beta catenin 3 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1601931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 12186623 DACT3 dishevelled binding antagonist of beta catenin 3 gene DOID:0110644 long QT syndrome 1 ISO RGD:1601931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:28492532 12186623 DACT3 dishevelled binding antagonist of beta catenin 3 gene DOID:1059 intellectual disability ISO RGD:1601931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12186623 DACT3 dishevelled binding antagonist of beta catenin 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1601931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12186623 DACT3 dishevelled binding antagonist of beta catenin 3 gene DOID:630 genetic disease ISO RGD:1601931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186632 ANKHD1 ankyrin repeat and KH domain containing 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1606539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12186632 ANKHD1 ankyrin repeat and KH domain containing 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606539 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12186632 ANKHD1 ankyrin repeat and KH domain containing 1 gene DOID:630 genetic disease ISO RGD:1606539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186632 ANKHD1 ankyrin repeat and KH domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12186632 ANKHD1 ankyrin repeat and KH domain containing 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606539 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12186679 MFSD9 major facilitator superfamily domain containing 9 gene DOID:630 genetic disease ISO RGD:1606209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186689 GAST gastrin gene DOID:299 adenocarcinoma ISO RGD:735826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3952654 12186689 GAST gastrin gene DOID:630 genetic disease ISO RGD:735826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186689 GAST gastrin gene DOID:750 peptic ulcer disease ISO RGD:735826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10700044 12186689 GAST gastrin gene DOID:77 gastrointestinal system disease ISO RGD:735826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12729842 12186689 GAST gastrin gene DOID:9000217 Stomach Neoplasms ISO RGD:735826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15492468 12186689 GAST gastrin gene DOID:9002928 Colonic Neoplasms ISO RGD:735826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3952654 12186689 GAST gastrin gene DOID:9004009 Reperfusion Injury ISO RGD:735826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10594344 12186689 GAST gastrin gene DOID:9005172 Lung Neoplasms ISO RGD:735826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11208460 12186689 GAST gastrin gene DOID:9206 Barrett's esophagus ISO RGD:735826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15387324 12186762 NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0050437 Danon disease ISO RGD:1350497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 12186762 NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1350497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:19185523|PMID:21596602|PMID:23871722|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28794991|PMID:29353736|PMID:31288420 12186762 NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12186762 NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1350497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 12186762 NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1350497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 12186762 NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0111868 nonphotosensitive trichothiodystrophy 5 ISO RGD:1350497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 5, nonphotosensitive PMID:25741868 12186762 NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0112099 nuclear type mitochondrial complex I deficiency 12 ISO RGD:1350497 D RGD:7240710 20190315 OMIM 12186762 NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0112099 nuclear type mitochondrial complex I deficiency 12 ISO RGD:1350497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 PMID:17262856|PMID:19185523|PMID:21596602|PMID:23871722|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28794991|PMID:29353736|PMID:31288420 12186762 NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:12849 autistic disorder ISO RGD:1350497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12186762 NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:630 genetic disease ISO RGD:1350497 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19185523|PMID:21596602|PMID:23871722|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28794991|PMID:29353736|PMID:31288420 12186834 SFRP2 secreted frizzled related protein 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1345643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18716850 12186834 SFRP2 secreted frizzled related protein 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1345643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 12186834 SFRP2 secreted frizzled related protein 2 gene DOID:4450 renal cell carcinoma ISO RGD:1345643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18404682 12186834 SFRP2 secreted frizzled related protein 2 gene DOID:5844 myocardial infarction ISO RGD:1550582 D RGD:9068941 20230204 RGD PMID:19079247|REF_RGD_ID:155883169 12186834 SFRP2 secreted frizzled related protein 2 gene DOID:5844 myocardial infarction ISO RGD:735163 D RGD:9068941 20200609 RGD PMID:19109969|REF_RGD_ID:4107088 12186834 SFRP2 secreted frizzled related protein 2 gene DOID:630 genetic disease ISO RGD:1345643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186834 SFRP2 secreted frizzled related protein 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735163 D RGD:9068941 20200609 RGD PMID:19109969|REF_RGD_ID:4107088 12186834 SFRP2 secreted frizzled related protein 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923031|PMID:18716850 12186834 SFRP2 secreted frizzled related protein 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1345643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18283316 12186840 RNF181 ring finger protein 181 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1602715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 12186840 RNF181 ring finger protein 181 gene DOID:630 genetic disease ISO RGD:1602715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186849 PSMD13 proteasome 26S subunit, non-ATPase 13 gene DOID:0111969 immunodeficiency 39 ISO RGD:1313146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12186849 PSMD13 proteasome 26S subunit, non-ATPase 13 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12186849 PSMD13 proteasome 26S subunit, non-ATPase 13 gene DOID:630 genetic disease ISO RGD:1313146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186866 EXOSC1 exosome component 1 gene DOID:0112331 pontocerebellar hypoplasia type 1F ISO RGD:1352643 D RGD:7240710 20210526 OMIM 12186866 EXOSC1 exosome component 1 gene DOID:0112331 pontocerebellar hypoplasia type 1F ISO RGD:1352643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1F PMID:33463720 12186866 EXOSC1 exosome component 1 gene DOID:630 genetic disease ISO RGD:1352643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186878 DAGLA diacylglycerol lipase alpha gene DOID:0050773 paraganglioma ISO RGD:1343376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:22241717|PMID:26096992|PMID:28492532 12186878 DAGLA diacylglycerol lipase alpha gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1343376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12186878 DAGLA diacylglycerol lipase alpha gene DOID:1059 intellectual disability ISO RGD:1343376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12186878 DAGLA diacylglycerol lipase alpha gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1343376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:28332277 12186878 DAGLA diacylglycerol lipase alpha gene DOID:1324 lung cancer ISO RGD:1343376 D RGD:9068941 20220217 RGD DNA:SNP:rs60507107 (human) PMID:25592173|REF_RGD_ID:151356746 12186878 DAGLA diacylglycerol lipase alpha gene DOID:630 genetic disease ISO RGD:1343376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186878 DAGLA diacylglycerol lipase alpha gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:1343376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:22241717|PMID:26096992|PMID:28492532 12186902 PLEKHB2 pleckstrin homology domain containing B2 gene DOID:5419 schizophrenia ISO RGD:1322147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12186902 PLEKHB2 pleckstrin homology domain containing B2 gene DOID:630 genetic disease ISO RGD:1322147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186917 ATP9B ATPase phospholipid transporting 9B (putative) gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1353015 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12186917 ATP9B ATPase phospholipid transporting 9B (putative) gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1353015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 12186917 ATP9B ATPase phospholipid transporting 9B (putative) gene DOID:630 genetic disease ISO RGD:1353015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186917 ATP9B ATPase phospholipid transporting 9B (putative) gene DOID:6420 pulmonary valve stenosis ISO RGD:1353015 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12186917 ATP9B ATPase phospholipid transporting 9B (putative) gene DOID:8445 intestinal volvulus ISO RGD:1353015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12186917 ATP9B ATPase phospholipid transporting 9B (putative) gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1353015 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 12186917 ATP9B ATPase phospholipid transporting 9B (putative) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12186917 ATP9B ATPase phospholipid transporting 9B (putative) gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1353015 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 12186917 ATP9B ATPase phospholipid transporting 9B (putative) gene DOID:9008419 Volvulus Of Midgut ISO RGD:1353015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12186970 PRR27 proline rich 27 gene DOID:630 genetic disease ISO RGD:1604909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12186970 PRR27 proline rich 27 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1604909 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12186992 ZSWIM8 zinc finger SWIM-type containing 8 gene DOID:630 genetic disease ISO RGD:1344378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187062 CREB5 cAMP responsive element binding protein 5 gene DOID:0060224 atrial fibrillation ISO RGD:1606026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12187062 CREB5 cAMP responsive element binding protein 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12187062 CREB5 cAMP responsive element binding protein 5 gene DOID:630 genetic disease ISO RGD:1606026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187062 CREB5 cAMP responsive element binding protein 5 gene DOID:9006608 Lung Carcinoid Tumors severity ISO RGD:1606026 D RGD:9068941 20220303 RGD mRNA:decreased expression:lung (human) PMID:25105010|REF_RGD_ID:151660336 12187062 CREB5 cAMP responsive element binding protein 5 gene DOID:9007479 Habitual Abortions ISO RGD:1606026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30100398 12187108 HNMT histamine N-methyltransferase gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:733644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 12187108 HNMT histamine N-methyltransferase gene DOID:0060500 drug allergy ISO RGD:733644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 12187108 HNMT histamine N-methyltransferase gene DOID:0081214 autosomal recessive intellectual developmental disorder 51 ISO RGD:733644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 51 PMID:25741868|PMID:26206890|PMID:28492532 12187108 HNMT histamine N-methyltransferase gene DOID:0081214 autosomal recessive intellectual developmental disorder 51 susceptibility ISO RGD:733644 D RGD:7240710 20230517 OMIM 12187108 HNMT histamine N-methyltransferase gene DOID:11870 Pick's disease ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:11880199|REF_RGD_ID:5509779 12187108 HNMT histamine N-methyltransferase gene DOID:12858 Huntington's disease ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:21106039|REF_RGD_ID:5509774 12187108 HNMT histamine N-methyltransferase gene DOID:14250 Down syndrome ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:11880199|REF_RGD_ID:5509779 12187108 HNMT histamine N-methyltransferase gene DOID:14330 Parkinson's disease ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:17985251|REF_RGD_ID:5509778 12187108 HNMT histamine N-methyltransferase gene DOID:14330 Parkinson's disease no_association ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:19773194|REF_RGD_ID:5509775 12187108 HNMT histamine N-methyltransferase gene DOID:1555 urticaria ISO RGD:733644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 12187108 HNMT histamine N-methyltransferase gene DOID:2841 asthma ISO RGD:733644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, susceptibility to PMID:10752634|PMID:10803682|PMID:16205835 12187108 HNMT histamine N-methyltransferase gene DOID:2841 asthma no_association ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:15693910|PMID:16205835|PMID:17651147|REF_RGD_ID:5128885|REF_RGD_ID:5128887|REF_RGD_ID:5128888 12187108 HNMT histamine N-methyltransferase gene DOID:2841 asthma susceptibility ISO RGD:733644 D RGD:7240710 20230517 OMIM 12187108 HNMT histamine N-methyltransferase gene DOID:3310 atopic dermatitis ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:19025430|REF_RGD_ID:5128889 12187108 HNMT histamine N-methyltransferase gene DOID:3454 brain infarction severity ISO RGD:71049 D RGD:9068941 20200609 RGD PMID:16330002|PMID:21131122|REF_RGD_ID:5509772|REF_RGD_ID:5509773 12187108 HNMT histamine N-methyltransferase gene DOID:4483 rhinitis ISO RGD:733644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17651147 12187108 HNMT histamine N-methyltransferase gene DOID:4483 rhinitis no_association ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:17651147|REF_RGD_ID:5128885 12187108 HNMT histamine N-methyltransferase gene DOID:4990 essential tremor ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:18543121|REF_RGD_ID:5509776 12187108 HNMT histamine N-methyltransferase gene DOID:4990 essential tremor no_association ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:19773194|REF_RGD_ID:5509775 12187108 HNMT histamine N-methyltransferase gene DOID:5419 schizophrenia no_association ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:10898922|REF_RGD_ID:5509780 12187108 HNMT histamine N-methyltransferase gene DOID:630 genetic disease ISO RGD:733644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187108 HNMT histamine N-methyltransferase gene DOID:8577 ulcerative colitis ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:18340362|REF_RGD_ID:5509777 12187108 HNMT histamine N-methyltransferase gene DOID:9000772 Bronchial Hyperreactivity no_association ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:15693910|REF_RGD_ID:5128888 12187118 NDFIP2 Nedd4 family interacting protein 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1320205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12187118 NDFIP2 Nedd4 family interacting protein 2 gene DOID:630 genetic disease ISO RGD:1320205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187130 RNF6 ring finger protein 6 gene DOID:1749 squamous cell carcinoma ISO RGD:1314509 D RGD:9068941 20200609 RGD PMID:12154016|REF_RGD_ID:1599613 12187130 RNF6 ring finger protein 6 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1314509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic PMID:12154016 12187130 RNF6 ring finger protein 6 gene DOID:5041 esophageal cancer ISO RGD:1314509 D RGD:7240710 20180418 OMIM 12187130 RNF6 ring finger protein 6 gene DOID:630 genetic disease ISO RGD:1314509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187130 RNF6 ring finger protein 6 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1314509 D RGD:9068941 20220331 RGD PMID:30496760|REF_RGD_ID:151665757 12187130 RNF6 ring finger protein 6 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1314509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12187130 RNF6 ring finger protein 6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1314509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 12187150 ZWINT ZW10 interacting kinetochore protein gene DOID:0080600 COVID-19 ISO RGD:1347195 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12187150 ZWINT ZW10 interacting kinetochore protein gene DOID:630 genetic disease ISO RGD:1347195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187150 ZWINT ZW10 interacting kinetochore protein gene DOID:684 hepatocellular carcinoma ISO RGD:1347195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12187201 CACUL1 CDK2 associated cullin domain 1 gene DOID:630 genetic disease ISO RGD:1317719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187201 CACUL1 CDK2 associated cullin domain 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1317719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 12187213 SLC2A9 solute carrier family 2 member 9 gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:1314451 D RGD:9068941 20220825 MouseDO 12187213 SLC2A9 solute carrier family 2 member 9 gene DOID:0080653 urolithiasis IAGP D RGD:12801476 20220629 OMIA Urolithiasis PMID:15501150 12187213 SLC2A9 solute carrier family 2 member 9 gene DOID:13189 gout ISO RGD:1351405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18327256|PMID:18327257 12187213 SLC2A9 solute carrier family 2 member 9 gene DOID:1920 hyperuricemia ISO RGD:1314451 D RGD:9068941 20220825 MouseDO 12187213 SLC2A9 solute carrier family 2 member 9 gene DOID:1920 hyperuricemia ISO RGD:1351405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18989453 12187213 SLC2A9 solute carrier family 2 member 9 gene DOID:5419 schizophrenia ISO RGD:1351405 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12187213 SLC2A9 solute carrier family 2 member 9 gene DOID:630 genetic disease ISO RGD:1351405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12187213 SLC2A9 solute carrier family 2 member 9 gene DOID:9007605 Renal Hypouricemia ISO RGD:1351405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dalmatian hypouricemia 12187213 SLC2A9 solute carrier family 2 member 9 gene DOID:9007721 Renal Hypouricemia, 2 ISO RGD:1351405 D RGD:7240710 20180130 OMIM 12187213 SLC2A9 solute carrier family 2 member 9 gene DOID:9007721 Renal Hypouricemia, 2 ISO RGD:1351405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypouricemia, renal, 2 | ClinVar Annotator: match by term: Uric acid concentration, serum, quantitative trait locus 2 PMID:18327256|PMID:18327257|PMID:18701466|PMID:19026395|PMID:19189137|PMID:19926891|PMID:21256783|PMID:21536615|PMID:21810765|PMID:22132964|PMID:24397858|PMID:24628802|PMID:24940677|PMID:25741868|PMID:25966807|PMID:26500098|PMID:27116386|PMID:28492532|PMID:29967582 12187239 TRIP6 thyroid hormone receptor interactor 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12187239 TRIP6 thyroid hormone receptor interactor 6 gene DOID:630 genetic disease ISO RGD:1353366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:0070271 Lynch syndrome 1 ISO RGD:1313536 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:10479499|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15521988|PMID:15845562|PMID:15872200|PMID:15887099|PMID:16144131|PMID:16426742|PMID:16472587|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17029773|PMID:17312306|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:18768816|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19389263|PMID:19495563|PMID:19723918|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23652311|PMID:23709753|PMID:23960188|PMID:23981578|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24790682|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25512458|PMID:25691505|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26837502|PMID:26845104|PMID:26895986|PMID:26898890|PMID:27017610|PMID:27037742|PMID:27064304|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27601186|PMID:27863258|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29887214|PMID:29946849|PMID:30113427|PMID:30155321|PMID:30256826|PMID:30337059|PMID:30521064|PMID:30572730|PMID:30613976|PMID:30702970|PMID:30760869|PMID:30809968|PMID:31159747|PMID:31269945|PMID:31422574|PMID:31433215|PMID:31742824|PMID:31992580|PMID:32068069|PMID:32661327|PMID:32773772|PMID:33120919|PMID:33471991|PMID:35089076|PMID:35535697|PMID:7628019|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:0070271 Lynch syndrome 1 ISO RGD:1313536 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:10479499|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15521988|PMID:15845562|PMID:15872200|PMID:15887099|PMID:16144131|PMID:16426742|PMID:16472587|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17029773|PMID:17312306|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:18768816|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19389263|PMID:19495563|PMID:19723918|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21376568|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23652311|PMID:23709753|PMID:23960188|PMID:23981578|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24790682|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25512458|PMID:25691505|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26837502|PMID:26845104|PMID:26895986|PMID:26898890|PMID:27017610|PMID:27037742|PMID:27064304|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27589204|PMID:27601186|PMID:27863258|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29887214|PMID:29946849|PMID:30113427|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30337059|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30702970|PMID:30760869|PMID:30809968|PMID:31159747|PMID:31269945|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31742824|PMID:31992580|PMID:32068069|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:33120919|PMID:33259954|PMID:33471991|PMID:33693762|PMID:34271781|PMID:35089076|PMID:35402282|PMID:35535697|PMID:36073783|PMID:7628019|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:0070271 Lynch syndrome 1 ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:10479499|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15521988|PMID:15845562|PMID:15872200|PMID:15887099|PMID:16144131|PMID:16426742|PMID:16472587|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17029773|PMID:17312306|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:18768816|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19389263|PMID:19495563|PMID:19723918|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21376568|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23652311|PMID:23709753|PMID:23960188|PMID:23981578|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24790682|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25512458|PMID:25637381|PMID:25691505|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26837502|PMID:26845104|PMID:26895986|PMID:26898890|PMID:27017610|PMID:27037742|PMID:27064304|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27589204|PMID:27601186|PMID:27806231|PMID:27863258|PMID:27930734|PMID:27978560|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29946849|PMID:30013564|PMID:30113427|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30337059|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30702970|PMID:30760869|PMID:30809968|PMID:31159747|PMID:31269945|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31742824|PMID:31857677|PMID:31948886|PMID:31992580|PMID:32060697|PMID:32068069|PMID:32571878|PMID:32634176|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:33120919|PMID:33258288|PMID:33259954|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33693762|PMID:34271781|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35535697|PMID:36073783|PMID:36647049|PMID:36988593|PMID:7628019|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:0070275 hereditary nonpolyposis colorectal cancer type 4 ISO RGD:1313536 D RGD:7240710 20180130 OMIM 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:0070275 hereditary nonpolyposis colorectal cancer type 4 ISO RGD:1313536 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 4 PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15955779|PMID:16144131|PMID:16199547|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18602922|PMID:18619468|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22608206|PMID:22658618|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23652311|PMID:23709753|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26811195|PMID:26837502|PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28050010|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29478780|PMID:29570743|PMID:29625052|PMID:29684080|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30192042|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:0070275 hereditary nonpolyposis colorectal cancer type 4 ISO RGD:1313536 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 4 PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31512090|PMID:31589614|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31742824|PMID:31780696|PMID:31857677|PMID:31874108|PMID:31883735|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32283892|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33359728|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:36647049|PMID:36988593|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:0110477 autosomal recessive nonsyndromic deafness 2 ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 2 PMID:22949387|PMID:25980754|PMID:26467025|PMID:27863258|PMID:28492532|PMID:33471991 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Constitutional mismatch repair deficiency syndrome | ClinVar Annotator: match by term: Turcot syndrome PMID:10037723|PMID:11574484|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15955779|PMID:16144131|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17557300|PMID:17576681|PMID:18007577|PMID:18273873|PMID:18602922|PMID:18824584|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19495563|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21618646|PMID:22081473|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22658618|PMID:22703879|PMID:22848017|PMID:22918162|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24326041|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26845104|PMID:26895986|PMID:26898890|PMID:26976419|PMID:27017610|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27356891|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27476653|PMID:27535533|PMID:27589204|PMID:27601186|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28218421|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28724667|PMID:28726808|PMID:28805995|PMID:28873162|PMID:28874130|PMID:29489754|PMID:29570743|PMID:29625052|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30077346|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30447919|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30702970|PMID:30760869|PMID:30764633|PMID:30787465|PMID:31056861|PMID:31159747|PMID:31327751|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31507588|PMID:31589614|PMID:31599855|PMID:31857677|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32885271|PMID:33087929|PMID:33120919|PMID:33258288|PMID:33259954|PMID:33471991|PMID:33504652|PMID:33693762|PMID:34048176|PMID:34271781|PMID:34285288|PMID:34371384|PMID:35089076|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:35886069|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:9488480|PMID:9536098|PMID:9683794 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:10283 prostate cancer disease_progression ISO RGD:1313536 D RGD:9068941 20200609 RGD PMID:19124481|REF_RGD_ID:2315026 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:10534 stomach cancer ISO RGD:1313536 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:12714694|PMID:15077197|PMID:15845562|PMID:16199547|PMID:16426742|PMID:18602922|PMID:19495563|PMID:1992580|PMID:20205264|PMID:20487569|PMID:21261604|PMID:21376568|PMID:22918162|PMID:23012243|PMID:23709753|PMID:24033266|PMID:24362816|PMID:24440087|PMID:25430799|PMID:25477341|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25850602|PMID:25856668|PMID:26110232|PMID:26247049|PMID:26270727|PMID:26318770|PMID:26467025|PMID:26681312|PMID:26720728|PMID:26895986|PMID:26898890|PMID:27273229|PMID:27476653|PMID:27589204|PMID:28449805|PMID:28492532|PMID:28514183|PMID:28640387|PMID:28724667|PMID:28975465|PMID:29625052|PMID:29667044|PMID:30256826|PMID:30376427|PMID:30521064|PMID:31056861|PMID:31101557|PMID:31992580|PMID:32012241|PMID:32885271|PMID:34178123|PMID:34285288|PMID:36647049|PMID:36988593|PMID:7632227|PMID:7661930|PMID:9488480 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:1313536 D RGD:9068941 20200609 RGD DNA:SNP: :rs6463524 (human) PMID:19692168|REF_RGD_ID:2315025 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:1520 colon carcinoma ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10037723|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12900794|PMID:15470502|PMID:16199547|PMID:16338176|PMID:16472587|PMID:16619239|PMID:17016615|PMID:17557300|PMID:17576681|PMID:18602922|PMID:18768816|PMID:19132747|PMID:19389263|PMID:20186688|PMID:20205264|PMID:20533529|PMID:21239990|PMID:21376568|PMID:21618646|PMID:22290698|PMID:22608206|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23709753|PMID:2402700|PMID:24027009|PMID:24362816|PMID:24728327|PMID:25194673|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25741868|PMID:25856668|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26333163|PMID:26467025|PMID:26689913|PMID:26845104|PMID:26976419|PMID:27082517|PMID:27376475|PMID:27435373|PMID:27930734|PMID:28135145|PMID:28166811|PMID:28218421|PMID:28466842|PMID:28492532|PMID:28502729|PMID:29300386|PMID:29478780|PMID:30103829|PMID:30374176|PMID:31159747|PMID:31336956|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31512090|PMID:31650731|PMID:31857677|PMID:31992580|PMID:32547938|PMID:32658311|PMID:32832836|PMID:33471991|PMID:9536098|PMID:9683794 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:1612 breast cancer ISO RGD:1313536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30651582|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31784482|PMID:31992580|PMID:32039725|PMID:32133419|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:1612 breast cancer ISO RGD:1313536 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30651582|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31784482|PMID:31992580|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:1612 breast cancer ISO RGD:1313536 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30651582|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31784482|PMID:31992580|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:1612 breast cancer ISO RGD:1313536 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30521064|PMID:30651582|PMID:30702970|PMID:31056861|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31741177|PMID:31784482|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32832836|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34285288|PMID:34371384|PMID:35189042 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:1612 breast cancer ISO RGD:1313536 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:17576681|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30521064|PMID:30651582|PMID:30702970|PMID:31056861|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31741177|PMID:31784482|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32809219|PMID:32832836|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34250417|PMID:34284872|PMID:34285288|PMID:34371384|PMID:35189042|PMID:9536098 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:1612 breast cancer ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:17576681|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30521064|PMID:30651582|PMID:30702970|PMID:31056861|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31741177|PMID:31784482|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32809219|PMID:32832836|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34250417|PMID:34284872|PMID:34285288|PMID:34371384|PMID:35189042|PMID:36988593|PMID:9536098 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:219 colon cancer ISO RGD:1313536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:25741868 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:2394 ovarian cancer ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:10479499|PMID:10480359|PMID:15077197|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:22086678|PMID:22290698|PMID:22703879|PMID:24027009|PMID:24072394|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25479140|PMID:25503501|PMID:25741868|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26798439|PMID:26845104|PMID:26900293|PMID:27028851|PMID:27356891|PMID:27435373|PMID:27601186|PMID:27616075|PMID:27720647|PMID:27930734|PMID:28135145|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28528518|PMID:28874130|PMID:29570743|PMID:29684080|PMID:30093976|PMID:30122538|PMID:30166348|PMID:30521064|PMID:31269945|PMID:31391288|PMID:31742824|PMID:31830689|PMID:31921681|PMID:32068069|PMID:32566746|PMID:32661327|PMID:32832836|PMID:32914570|PMID:32980694|PMID:33413596|PMID:33471991|PMID:34350294|PMID:36200007 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:2394 ovarian cancer disease_progression ISO RGD:1313536 D RGD:9068941 20200609 RGD DNA:SNP: :rs2228006 (human) PMID:18723338|REF_RGD_ID:2315028 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:2871 endometrial carcinoma ISO RGD:1313536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10479499|PMID:10480359|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:15872200|PMID:16144131|PMID:16199547|PMID:16472587|PMID:16619239|PMID:17139668|PMID:17557300|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18602922|PMID:18768816|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22577899|PMID:22703879|PMID:22875147|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23435383|PMID:23709753|PMID:23981578|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24130102|PMID:24326041|PMID:24362816|PMID:24434690|PMID:24440087|PMID:24556621|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25503501|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26272126|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26811195|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26921362|PMID:27001570|PMID:27050224|PMID:27203213|PMID:27379089|PMID:27433846|PMID:27435373|PMID:27476653|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28449805|PMID:28492532|PMID:28528518|PMID:28596308|PMID:28873162|PMID:28975465|PMID:29333623|PMID:29345684|PMID:29570743|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29887214|PMID:30013564|PMID:30322717|PMID:30608896|PMID:30612635|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:31159747|PMID:31300551|PMID:31327751|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31948886|PMID:31992580|PMID:32060697|PMID:32547938|PMID:32571878|PMID:32634176|PMID:32719484|PMID:33258288|PMID:33471991|PMID:33504652|PMID:34371384|PMID:35535697|PMID:7628019|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9683794 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:3247 rhabdomyosarcoma ISO RGD:1313536 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10037723|PMID:15077197|PMID:16507833|PMID:18602922|PMID:18824584|PMID:19092773|PMID:20205264|PMID:20581245|PMID:21356188|PMID:21618646|PMID:23012243|PMID:2440087|PMID:25512458|PMID:25525159|PMID:26110232|PMID:26895986|PMID:27435373|PMID:28492532|PMID:28805995|PMID:31433215|PMID:32773772|PMID:34048176|PMID:7629132 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:3459 breast carcinoma ISO RGD:1313536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:16199547|PMID:21376568|PMID:24362816|PMID:25741868|PMID:28492532 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:11897781|PMID:12208142|PMID:12714694|PMID:12851690|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:20961292|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:22406018|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22941189|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24323032|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27854218|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29286535|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30192042|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31101557|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31336956|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32295625|PMID:32547938|PMID:32566746|PMID:32620519|PMID:32658311|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32830346|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32959997|PMID:33120919|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34178123|PMID:34284872|PMID:34371384|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22406018|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22941189|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24323032|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29212164|PMID:29286535|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30192042|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31101557|PMID:31102422|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32295625|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32620519|PMID:32628757|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32830346|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34115236|PMID:34178123|PMID:34284872|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35535697|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29212164|PMID:29286535|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30192042|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31101557|PMID:31102422|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32295625|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32620519|PMID:32628757|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32830346|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34284872|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35535697|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22406018|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24323032|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27854218|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:34465341|PMID:34667028|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:35734982|PMID:36091175|PMID:36647049|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:22406018|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:34465341|PMID:34667028|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:36091175|PMID:36200007|PMID:36647049|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:4916 pituitary carcinoma ISO RGD:1313536 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pituitary carcinoma PMID:15256438|PMID:16144131|PMID:16619239|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19156169|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22577899|PMID:22949387|PMID:23709753|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24897087|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25637381|PMID:25741868|PMID:25871621|PMID:26116798|PMID:26318770|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26845104|PMID:27433846|PMID:27435373|PMID:27806231|PMID:27863258|PMID:28125078|PMID:28152038|PMID:28449805|PMID:28492532|PMID:28528518|PMID:28596308|PMID:29875428|PMID:30013564|PMID:30612635|PMID:30702970|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31948886|PMID:31992580|PMID:32060697|PMID:32571878|PMID:32634176|PMID:32719484|PMID:33258288|PMID:33504652|PMID:35535697|PMID:7628019 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:17576681|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31874108|PMID:31992580|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:7628019|PMID:9536098|PMID:9683794 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28195393|PMID:28365877|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31874108|PMID:31992580|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:35535697|PMID:7628019|PMID:9683794 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27050224|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28195393|PMID:28365877|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31874108|PMID:31992580|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:35535697|PMID:7628019|PMID:9683794 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27050224|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28195393|PMID:28365877|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29333623|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31874108|PMID:31992580|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:35263119|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9683794 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25326637|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27050224|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29333623|PMID:29570743|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:30013564|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30612635|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32060697|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33471991|PMID:33504652|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:35189042|PMID:35263119|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9683794 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27050224|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29333623|PMID:29570743|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:30013564|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30612635|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32060697|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33471991|PMID:33504652|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:35189042|PMID:35263119|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9683794 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29570743|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33471991|PMID:33504652|PMID:33821390|PMID:33850299|PMID:34271781|PMID:34284872|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9419979|PMID:9683794 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29570743|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:34271781|PMID:34284872|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9419979|PMID:9683794 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:684 hepatocellular carcinoma ISO RGD:1313536 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17717427 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9001492 Lowry Maclean syndrome ISO RGD:1313536 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lowry-MacLean syndrome | ClinVar Annotator: match by term: Mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure PMID:22949387|PMID:23499907|PMID:25186627|PMID:25741868|PMID:26320870|PMID:26423401|PMID:28492532|PMID:28767177 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9001515 Angioma Serpiginosum, Autosomal Dominant ISO RGD:1313536 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angioma serpiginosum, autosomal dominant PMID:25741868|PMID:28492532 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1313536 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:16144131|PMID:16283678|PMID:18602922|PMID:19283792|PMID:20205264|PMID:21239990|PMID:21376568|PMID:22658618|PMID:23012243|PMID:24033266|PMID:24362816|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26895986|PMID:28492532|PMID:29489754|PMID:6144131 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9002089 Tumor Predisposition Syndrome 1 ISO RGD:1313536 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 PMID:25318351|PMID:25741868|PMID:28492532|PMID:31386297 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9002453 Cafe-au-Lait Spots ISO RGD:1313536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15077197 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9002762 Ovarian Neoplasms ISO RGD:1313536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:10480359|PMID:15256438|PMID:16472587|PMID:19132747|PMID:19526325|PMID:20205264|PMID:22703879|PMID:23709753|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:1313536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15077197 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9002928 Colonic Neoplasms ISO RGD:1313536 D RGD:9068941 20200609 RGD PMID:10763829|REF_RGD_ID:1599141 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9003685 Mismatch Repair Cancer Syndrome 4 ISO RGD:1313536 D RGD:7240710 20201202 OMIM 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9003685 Mismatch Repair Cancer Syndrome 4 ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mismatch repair cancer syndrome 4 PMID:10037723|PMID:10763829|PMID:12208142|PMID:12714694|PMID:14574005|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15845562|PMID:16144131|PMID:16199547|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16619239|PMID:17557300|PMID:17576681|PMID:18030674|PMID:18268114|PMID:18273873|PMID:18602922|PMID:18824584|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19293170|PMID:19495563|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20581245|PMID:20587412|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:22577899|PMID:22608206|PMID:22703879|PMID:22949387|PMID:23012243|PMID:23709753|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24362816|PMID:2440087|PMID:24440087|PMID:24689082|PMID:24728327|PMID:24763289|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25345868|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26681312|PMID:26720728|PMID:26845104|PMID:26895986|PMID:27064304|PMID:27082517|PMID:27376475|PMID:27433846|PMID:27435373|PMID:27498913|PMID:27696107|PMID:27806231|PMID:27863258|PMID:28125078|PMID:28152038|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28528518|PMID:28596308|PMID:28805995|PMID:28873162|PMID:29478780|PMID:29752822|PMID:29875428|PMID:30013564|PMID:30103829|PMID:30306255|PMID:30521064|PMID:30612635|PMID:30702970|PMID:30833958|PMID:31159747|PMID:31269945|PMID:31336956|PMID:31386297|PMID:31422818|PMID:31433215|PMID:31447099|PMID:31512090|PMID:31589614|PMID:31650731|PMID:31742824|PMID:31857677|PMID:31948886|PMID:31992580|PMID:32060697|PMID:32068069|PMID:32571878|PMID:32634176|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:33258288|PMID:33471991|PMID:33504652|PMID:34048176|PMID:35535697|PMID:36988593|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:8993976|PMID:9488480|PMID:9536098 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9003892 Mismatch Repair Cancer Syndrome 1 ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: BRAIN TUMOR-POLYPOSIS SYNDROME 1 | ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 PMID:10037723|PMID:11574484|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15955779|PMID:16144131|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17557300|PMID:18273873|PMID:18602922|PMID:18824584|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19495563|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20581245|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21618646|PMID:22081473|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22658618|PMID:22703879|PMID:22848017|PMID:22918162|PMID:22949387|PMID:23012243|PMID:23652311|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24728189|PMID:24728327|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26895986|PMID:26898890|PMID:26976419|PMID:27017610|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27476653|PMID:27535533|PMID:27589204|PMID:27601186|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28724667|PMID:28726808|PMID:28805995|PMID:28873162|PMID:28874130|PMID:29570743|PMID:29625052|PMID:29785153|PMID:29875428|PMID:29967336|PMID:30013564|PMID:30077346|PMID:30093976|PMID:30113427|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30447919|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30702970|PMID:30760869|PMID:30764633|PMID:30787465|PMID:31056861|PMID:31159747|PMID:31327751|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31589614|PMID:31857677|PMID:31883735|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32885271|PMID:33087929|PMID:33120919|PMID:33258288|PMID:33259954|PMID:33471991|PMID:33504652|PMID:33693762|PMID:34048176|PMID:34271781|PMID:34285288|PMID:34371384|PMID:35089076|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:36988593|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:9488480|PMID:9683794 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9004271 Colonic Polyps ISO RGD:1313536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon polyps PMID:16199547|PMID:18602922|PMID:19132747|PMID:19479271|PMID:21376568|PMID:24027009|PMID:24033266|PMID:24362816|PMID:25186627|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26467025|PMID:26689913|PMID:27435373|PMID:28492532|PMID:28873162|PMID:28975465|PMID:29785153|PMID:30651582|PMID:30653781|PMID:31159747|PMID:31391288 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9006537 Supratentorial Neoplasms ISO RGD:1313536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15077197 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:11897781|PMID:12208142|PMID:12714694|PMID:12851690|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18602922|PMID:18619468|PMID:18709565|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22941189|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29286535|PMID:29333623|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29570743 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:31101557|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31336956|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31921681|PMID:31942411|PMID:31992580|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32295625|PMID:32547938|PMID:32566746|PMID:32620519|PMID:32658311|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32830346|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32959997|PMID:33120919|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34178123|PMID:34284872|PMID:34371384|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18602922|PMID:18619468|PMID:18709565|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29489754|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30192042|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:31101557|PMID:31102422|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31599855|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31921681|PMID:31942411|PMID:31992580|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32295625|PMID:32547938|PMID:32566746|PMID:32620519|PMID:32628757|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32830346|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34271781|PMID:34284872|PMID:34350294|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35402282|PMID:35535697|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:11948175|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18709565|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20600922|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22204421|PMID:22290698|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22740367|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27820123|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:2813514|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29025590|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35263119|PMID:35402282|PMID:35475445|PMID:35535697|PMID:35734982|PMID:36091175|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:11948175|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18709565|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20600922|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22204421|PMID:22290698|PMID:22295133|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22740367|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27820123|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29025590|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:36091175|PMID:36200007|PMID:36647049|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9007502 Brain Neoplasms ISO RGD:1313536 D RGD:9068941 20200609 RGD PMID:10763829|REF_RGD_ID:1599141 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9008939 Breast Neoplasms ISO RGD:1313536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:23709753|PMID:24033266|PMID:25741868|PMID:27146957|PMID:28466842|PMID:28492532 12187252 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:9008952 Breast Cancer, Familial ISO RGD:1313536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:0060309 syndromic X-linked intellectual disability ISO RGD:733678 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: X-linked syndromic intellectual disability PMID:22452838|PMID:25741868 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:0060768 Smith-Magenis syndrome ISO RGD:733678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:25741868|PMID:27799067 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:733678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:733678 D RGD:7240710 20180130 OMIM 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:733678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Najm type PMID:16199547|PMID:17576681|PMID:18414213|PMID:19165920|PMID:19377476|PMID:20029458|PMID:21609947|PMID:21735175|PMID:21954287|PMID:22452838|PMID:22495306|PMID:22709267|PMID:23165780|PMID:23406872|PMID:23871722|PMID:23901204|PMID:24505460|PMID:24781210|PMID:24893065|PMID:25326635|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27173948|PMID:27652284|PMID:27799067|PMID:28132688|PMID:28407358|PMID:28492532|PMID:28783747|PMID:28944139|PMID:29691940|PMID:29878067|PMID:30549415|PMID:31474318|PMID:31785789|PMID:33090494|PMID:33504798|PMID:9536098 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:0070338 cerebellar hypoplasia ISO RGD:733678 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:21735175|PMID:25326635|PMID:25741868|PMID:31474318|PMID:32581362 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:10283 prostate cancer ISO RGD:733678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:1059 intellectual disability ISO RGD:733678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:10907 microcephaly ISO RGD:733678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19165920 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:12849 autistic disorder ISO RGD:733678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:13628 favism ISO RGD:733678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:14711 FG syndrome ISO RGD:733678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:14711 FG syndrome ISO RGD:733678 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R28L (c.83G>T) (human) PMID:19200522|REF_RGD_ID:11576290 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:1826 epilepsy ISO RGD:733678 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:2786 cerebellar disease ISO RGD:733678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19165920 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:305 carcinoma ISO RGD:733678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:543 dystonia ISO RGD:733678 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:630 genetic disease ISO RGD:733678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:19165920|PMID:19377476|PMID:20029458|PMID:21954287|PMID:22452838|PMID:22709267|PMID:23871722|PMID:24505460|PMID:24781210|PMID:24893065|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28944139 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:674 cleft palate ISO RGD:62296 D RGD:9068941 20200609 RGD DNA:insertion PMID:9787075|REF_RGD_ID:11576291 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:674 cleft palate ISO RGD:733678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9787075 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:9000441 Butyrylcholinesterase Deficiency ISO RGD:733678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of butyrylcholine esterase PMID:25741868 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:9000459 Acholinesterasemia ISO RGD:733678 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acholinesterasemia PMID:25741868 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:9000998 Brain Injuries ISO RGD:62004 D RGD:9068941 20200609 RGD PMID:25089700|REF_RGD_ID:11576302 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:9001153 FG Syndrome 4 ISO RGD:733678 D RGD:7240710 20200226 OMIM 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:9001153 FG Syndrome 4 ISO RGD:733678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CASK-Related Disorder | ClinVar Annotator: match by term: FG syndrome 4 PMID:18414213|PMID:19165920|PMID:19200522|PMID:19377476|PMID:20029458|PMID:21954287|PMID:22452838|PMID:22709267|PMID:23406872|PMID:23871722|PMID:24505460|PMID:24781210|PMID:25741868|PMID:27652284|PMID:27799067|PMID:28492532|PMID:28944139|PMID:29878067|PMID:30549415|PMID:33090494 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:9005850 Hereditary Optic Atrophies ISO RGD:733678 D RGD:9068941 20200609 RGD PMID:9722958|REF_RGD_ID:734690 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:733678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19165920|PMID:19377476 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:9006534 Nervous System Malformations ISO RGD:733678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:9008086 Developmental Disabilities ISO RGD:733678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32581362 12187275 CASK calcium/calmodulin dependent serine protein kinase gene DOID:9008582 Developmental Disease ISO RGD:733678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12187320 MRPL13 mitochondrial ribosomal protein L13 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1351918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12187320 MRPL13 mitochondrial ribosomal protein L13 gene DOID:1749 squamous cell carcinoma ISO RGD:1351918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12187320 MRPL13 mitochondrial ribosomal protein L13 gene DOID:630 genetic disease ISO RGD:1351918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187320 MRPL13 mitochondrial ribosomal protein L13 gene DOID:9000217 Stomach Neoplasms ISO RGD:1351918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12187320 MRPL13 mitochondrial ribosomal protein L13 gene DOID:9000918 Disease Progression ISO RGD:1351918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12187320 MRPL13 mitochondrial ribosomal protein L13 gene DOID:9007364 Mouth Neoplasms ISO RGD:1351918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12187320 MRPL13 mitochondrial ribosomal protein L13 gene DOID:9008939 Breast Neoplasms ISO RGD:1351918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12187333 DGKI diacylglycerol kinase iota gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12187333 DGKI diacylglycerol kinase iota gene DOID:630 genetic disease ISO RGD:1343674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187382 MDH2 malate dehydrogenase 2 gene DOID:0080433 developmental and epileptic encephalopathy 51 ISO RGD:733026 D RGD:7240710 20190315 OMIM 12187382 MDH2 malate dehydrogenase 2 gene DOID:0080433 developmental and epileptic encephalopathy 51 ISO RGD:733026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 51 PMID:25741868|PMID:27989324|PMID:28492532 12187382 MDH2 malate dehydrogenase 2 gene DOID:2316 brain ischemia ISO RGD:619719 D RGD:9068941 20200609 RGD PMID:6282622|REF_RGD_ID:1582465 12187382 MDH2 malate dehydrogenase 2 gene DOID:305 carcinoma ISO RGD:733026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12187382 MDH2 malate dehydrogenase 2 gene DOID:4001 ovarian carcinoma ISO RGD:733026 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 12187382 MDH2 malate dehydrogenase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12187382 MDH2 malate dehydrogenase 2 gene DOID:5844 myocardial infarction ISO RGD:619719 D RGD:9068941 20200609 RGD PMID:9753871|REF_RGD_ID:1582468 12187382 MDH2 malate dehydrogenase 2 gene DOID:6000 congestive heart failure ISO RGD:619719 D RGD:9068941 20200609 RGD PMID:16786185|REF_RGD_ID:1582470 12187382 MDH2 malate dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:733026 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12187382 MDH2 malate dehydrogenase 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12187382 MDH2 malate dehydrogenase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12187382 MDH2 malate dehydrogenase 2 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:733026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12187382 MDH2 malate dehydrogenase 2 gene DOID:936 brain disease ISO RGD:733026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile encephalopathy PMID:25741868|PMID:27989324|PMID:28492532 12187395 CLIP4 CAP-Gly domain containing linker protein family member 4 gene DOID:630 genetic disease ISO RGD:1350068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187395 CLIP4 CAP-Gly domain containing linker protein family member 4 gene DOID:9009095 Neuroblastoma 3 ISO RGD:1350068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 PMID:28492532 12187430 NLRP2 NLR family pyrin domain containing 2 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1344725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 12187430 NLRP2 NLR family pyrin domain containing 2 gene DOID:630 genetic disease ISO RGD:1344725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187430 NLRP2 NLR family pyrin domain containing 2 gene DOID:9008905 Oocyte/Zygote/Embryo Maturation Arrest 18 ISO RGD:1344725 D RGD:7240710 20230505 OMIM 12187430 NLRP2 NLR family pyrin domain containing 2 gene DOID:9008905 Oocyte/Zygote/Embryo Maturation Arrest 18 ISO RGD:1344725 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 18 PMID:30877238 12187446 FGF21 fibroblast growth factor 21 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1344631 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26797127|PMID:29289645 12187446 FGF21 fibroblast growth factor 21 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:732404 D RGD:9068941 20200609 RGD PMID:32195457|REF_RGD_ID:25330354 12187446 FGF21 fibroblast growth factor 21 gene DOID:10763 hypertension ISO RGD:1344631 D RGD:9068941 20210115 CTD CTD Direct Evidence: therapeutic PMID:29706566 12187446 FGF21 fibroblast growth factor 21 gene DOID:178 vascular disease ISO RGD:1344631 D RGD:9068941 20210115 CTD CTD Direct Evidence: therapeutic PMID:29706566 12187446 FGF21 fibroblast growth factor 21 gene DOID:1936 atherosclerosis ISO RGD:1344631 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum: PMID:26047614|REF_RGD_ID:10401919 12187446 FGF21 fibroblast growth factor 21 gene DOID:3525 middle cerebral artery infarction ISO RGD:1344631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 12187446 FGF21 fibroblast growth factor 21 gene DOID:630 genetic disease ISO RGD:1344631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187446 FGF21 fibroblast growth factor 21 gene DOID:784 chronic kidney disease ISO RGD:1344631 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22494291|REF_RGD_ID:10401925 12187446 FGF21 fibroblast growth factor 21 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1344631 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:25625802|REF_RGD_ID:10401920 12187446 FGF21 fibroblast growth factor 21 gene DOID:9003936 Cardiomegaly ISO RGD:732404 D RGD:9068941 20200609 RGD PMID:23771152|REF_RGD_ID:10401893 12187446 FGF21 fibroblast growth factor 21 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1344631 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23499715 12187446 FGF21 fibroblast growth factor 21 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620175 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:23262585|REF_RGD_ID:10401916 12187446 FGF21 fibroblast growth factor 21 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732404 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:23262585|REF_RGD_ID:10401916 12187446 FGF21 fibroblast growth factor 21 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:732404 D RGD:9068941 20200609 RGD PMID:25359298|REF_RGD_ID:10401921 12187446 FGF21 fibroblast growth factor 21 gene DOID:9006263 Experimental Pancreatitis ISO RGD:732404 D RGD:9068941 20200609 RGD PMID:19664632|REF_RGD_ID:10401870 12187446 FGF21 fibroblast growth factor 21 gene DOID:9006263 Experimental Pancreatitis treatment ISO RGD:1344631 D RGD:9068941 20200609 RGD PMID:19664632|REF_RGD_ID:10401870 12187446 FGF21 fibroblast growth factor 21 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:732404 D RGD:9068941 20200609 RGD PMID:25306889|REF_RGD_ID:10401890 12187446 FGF21 fibroblast growth factor 21 gene DOID:9006778 Carotid Atherosclerosis ISO RGD:1344631 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:23887638|REF_RGD_ID:10401924 12187446 FGF21 fibroblast growth factor 21 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:620175 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:29883717|REF_RGD_ID:15045603 12187446 FGF21 fibroblast growth factor 21 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344631 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26797127 12187446 FGF21 fibroblast growth factor 21 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:732404 D RGD:9068941 20200609 RGD PMID:21293445|REF_RGD_ID:10401914 12187446 FGF21 fibroblast growth factor 21 gene DOID:9452 fatty liver disease ISO RGD:1344631 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24184811 12187446 FGF21 fibroblast growth factor 21 gene DOID:9452 fatty liver disease severity ISO RGD:1344631 D RGD:9068941 20200609 RGD PMID:32195457|REF_RGD_ID:25330354 12187446 FGF21 fibroblast growth factor 21 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1344631 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23499715 12187446 FGF21 fibroblast growth factor 21 gene DOID:9970 obesity ISO RGD:1344631 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24184811|PMID:26797127 12187457 SLC1A5 solute carrier family 1 member 5 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:1347799 D RGD:9068941 20220225 RGD PMID:24762957|REF_RGD_ID:151361157 12187457 SLC1A5 solute carrier family 1 member 5 gene DOID:0080600 COVID-19 ISO RGD:1347799 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12187457 SLC1A5 solute carrier family 1 member 5 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 12187457 SLC1A5 solute carrier family 1 member 5 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347799 D RGD:9068941 20220224 RGD protein:increased expression:esophagus PMID:33609949|REF_RGD_ID:151361149 12187457 SLC1A5 solute carrier family 1 member 5 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1347799 D RGD:9068941 20220303 RGD PMID:26936531|REF_RGD_ID:11532833 12187457 SLC1A5 solute carrier family 1 member 5 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1347799 D RGD:9068941 20220224 RGD PMID:26279756|REF_RGD_ID:151361150 12187457 SLC1A5 solute carrier family 1 member 5 gene DOID:630 genetic disease ISO RGD:1347799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187457 SLC1A5 solute carrier family 1 member 5 gene DOID:6432 pulmonary hypertension ISO RGD:1347799 D RGD:9068941 20220224 RGD protein:increased expression:myocytes plasma membrane, right ventricle PMID:23794090|REF_RGD_ID:151361111 12187457 SLC1A5 solute carrier family 1 member 5 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:708512 D RGD:9068941 20220224 RGD mRNA:increased expression:right ventricle PMID:23794090|REF_RGD_ID:151361111 12187469 ATP6V1B2 ATPase H+ transporting V1 subunit B2 gene DOID:0050873 follicular lymphoma ISO RGD:732120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26691987 12187469 ATP6V1B2 ATPase H+ transporting V1 subunit B2 gene DOID:0080720 autosomal dominant congenital deafness with onychodystrophy ISO RGD:732120 D RGD:7240710 20190315 OMIM 12187469 ATP6V1B2 ATPase H+ transporting V1 subunit B2 gene DOID:0080720 autosomal dominant congenital deafness with onychodystrophy ISO RGD:732120 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant PMID:24913193|PMID:25741868|PMID:28396750|PMID:31581539|PMID:31655144 12187469 ATP6V1B2 ATPase H+ transporting V1 subunit B2 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:732120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 12187469 ATP6V1B2 ATPase H+ transporting V1 subunit B2 gene DOID:630 genetic disease ISO RGD:732120 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12187469 ATP6V1B2 ATPase H+ transporting V1 subunit B2 gene DOID:8398 osteoarthritis ISO RGD:732120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12187469 ATP6V1B2 ATPase H+ transporting V1 subunit B2 gene DOID:9002680 Zimmermann-Laband Syndrome 1 ISO RGD:732120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 PMID:18541964|PMID:23994350|PMID:25915598 12187469 ATP6V1B2 ATPase H+ transporting V1 subunit B2 gene DOID:9004260 Zimmerman Laband Syndrome ISO RGD:732120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25915598 12187469 ATP6V1B2 ATPase H+ transporting V1 subunit B2 gene DOID:9008174 Zimmermann-Laband Syndrome 2 ISO RGD:732120 D RGD:7240710 20191113 OMIM 12187469 ATP6V1B2 ATPase H+ transporting V1 subunit B2 gene DOID:9008174 Zimmermann-Laband Syndrome 2 ISO RGD:732120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zimmermann-Laband syndrome 2 | ClinVar Annotator: match by term: Zimmermann-Laband syndrome with epileptic encephalopathy PMID:18541964|PMID:23994350|PMID:25741868|PMID:25915598 12187487 ATF1 activating transcription factor 1 gene DOID:0080322 polycystic kidney disease ISO RGD:1307360 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:19924104|REF_RGD_ID:2316104 12187487 ATF1 activating transcription factor 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1316513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12187487 ATF1 activating transcription factor 1 gene DOID:630 genetic disease ISO RGD:1316513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187524 VPS39 VPS39 subunit of HOPS complex gene DOID:2717 Bloom syndrome ISO RGD:1312537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12187524 VPS39 VPS39 subunit of HOPS complex gene DOID:5419 schizophrenia ISO RGD:1312537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23042115 12187524 VPS39 VPS39 subunit of HOPS complex gene DOID:630 genetic disease ISO RGD:1312537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187524 VPS39 VPS39 subunit of HOPS complex gene DOID:9008939 Breast Neoplasms ISO RGD:1312537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12187524 VPS39 VPS39 subunit of HOPS complex gene DOID:9256 colorectal cancer ISO RGD:1312537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12187583 TAS1R1 taste 1 receptor member 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732021 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12187583 TAS1R1 taste 1 receptor member 1 gene DOID:630 genetic disease ISO RGD:732021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187583 TAS1R1 taste 1 receptor member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12187593 LMF1 lipase maturation factor 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1348602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12187593 LMF1 lipase maturation factor 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1348602 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12187593 LMF1 lipase maturation factor 1 gene DOID:0111422 familial lipase maturation factor 1 deficiency ISO RGD:1348602 D RGD:7240710 20180130 OMIM 12187593 LMF1 lipase maturation factor 1 gene DOID:0111422 familial lipase maturation factor 1 deficiency ISO RGD:1348602 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Lipase deficiency, combined PMID:17994020|PMID:19820022|PMID:22239554|PMID:25741868|PMID:28492532|PMID:30037590|PMID:30337590|PMID:31980526|PMID:32041611|PMID:33303402 12187593 LMF1 lipase maturation factor 1 gene DOID:1826 epilepsy ISO RGD:1348602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12187593 LMF1 lipase maturation factor 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1348602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12187593 LMF1 lipase maturation factor 1 gene DOID:630 genetic disease ISO RGD:1348602 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29214790|PMID:30037590|PMID:30420299|PMID:32115487|PMID:32190547|PMID:36613909 12187593 LMF1 lipase maturation factor 1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1348602 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17994020 12187608 MROH9 maestro heat like repeat family member 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1602210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12187608 MROH9 maestro heat like repeat family member 9 gene DOID:630 genetic disease ISO RGD:1602210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187608 MROH9 maestro heat like repeat family member 9 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1602210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12187608 MROH9 maestro heat like repeat family member 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12187639 DLX3 distal-less homeobox 3 gene DOID:0110052 amelogenesis imperfecta type 1B ISO RGD:1312567 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant PMID:28492532 12187639 DLX3 distal-less homeobox 3 gene DOID:0110053 amelogenesis imperfecta type 4 ISO RGD:1312567 D RGD:7240710 20180130 OMIM 12187639 DLX3 distal-less homeobox 3 gene DOID:0110053 amelogenesis imperfecta type 4 ISO RGD:1312567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV PMID:25741868|PMID:28492532 12187639 DLX3 distal-less homeobox 3 gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:1312567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:23949819|PMID:26478226|PMID:28492532|PMID:7942841|PMID:9295084|PMID:9443882 12187639 DLX3 distal-less homeobox 3 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1312567 D RGD:7240710 20180130 OMIM 12187639 DLX3 distal-less homeobox 3 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1312567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TDO syndrome | ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:17950683|PMID:18492670|PMID:20510228|PMID:21520071|PMID:25741868|PMID:27924851|PMID:28492532|PMID:9467018|PMID:9783705 12187639 DLX3 distal-less homeobox 3 gene DOID:13223 uterine fibroid ISO RGD:1312567 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Uterine leiomyoma PMID:25741868 12187639 DLX3 distal-less homeobox 3 gene DOID:2187 amelogenesis imperfecta ISO RGD:1312567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital enamel hypoplasia PMID:25741868 12187639 DLX3 distal-less homeobox 3 gene DOID:630 genetic disease ISO RGD:1312567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12187646 OR1A1 olfactory receptor family 1 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1351186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187656 PTP4A3 protein tyrosine phosphatase 4A3 gene DOID:630 genetic disease ISO RGD:1318604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187656 PTP4A3 protein tyrosine phosphatase 4A3 gene DOID:9002928 Colonic Neoplasms ISO RGD:1318604 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23555575 12187681 LOC607539 armadillo repeat-containing protein 4-like gene DOID:0050144 Kartagener syndrome ISO RGD:1315828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:23806086|PMID:23849778|PMID:24088041|PMID:28492532 12187681 LOC607539 armadillo repeat-containing protein 4-like gene DOID:0050545 visceral heterotaxy ISO RGD:1315829 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 12187681 LOC607539 armadillo repeat-containing protein 4-like gene DOID:0060041 autism spectrum disorder ISO RGD:1315828 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12187681 LOC607539 armadillo repeat-containing protein 4-like gene DOID:0110609 primary ciliary dyskinesia 23 ISO RGD:1315828 D RGD:7240710 20210114 OMIM 12187681 LOC607539 armadillo repeat-containing protein 4-like gene DOID:0110609 primary ciliary dyskinesia 23 ISO RGD:1315828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 23 PMID:16199547|PMID:17576681|PMID:23806086|PMID:23849778|PMID:24033266|PMID:24088041|PMID:24203976|PMID:25741868|PMID:27637300|PMID:28492532|PMID:31213628|PMID:31650533|PMID:33577779|PMID:9536098 12187681 LOC607539 armadillo repeat-containing protein 4-like gene DOID:12336 male infertility ISO RGD:1315828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 12187681 LOC607539 armadillo repeat-containing protein 4-like gene DOID:630 genetic disease ISO RGD:1315828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12187681 LOC607539 armadillo repeat-containing protein 4-like gene DOID:9562 primary ciliary dyskinesia ISO RGD:1315828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:23806086|PMID:23849778|PMID:24033266|PMID:24088041|PMID:25741868|PMID:27637300|PMID:28492532|PMID:33577779 12187719 TNFRSF13C TNF receptor superfamily member 13C gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1354073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12187719 TNFRSF13C TNF receptor superfamily member 13C gene DOID:0080600 COVID-19 ISO RGD:1354073 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12187719 TNFRSF13C TNF receptor superfamily member 13C gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1354073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:25741868|PMID:28492532 12187719 TNFRSF13C TNF receptor superfamily member 13C gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1354073 D RGD:7240710 20190710 OMIM 12187719 TNFRSF13C TNF receptor superfamily member 13C gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1354073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:17576681|PMID:19666484|PMID:21041452|PMID:25741868|PMID:28492532|PMID:9536098 12187719 TNFRSF13C TNF receptor superfamily member 13C gene DOID:12177 common variable immunodeficiency ISO RGD:1354073 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive PMID:28492532 12187719 TNFRSF13C TNF receptor superfamily member 13C gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1354073 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 12187719 TNFRSF13C TNF receptor superfamily member 13C gene DOID:630 genetic disease ISO RGD:1354073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187719 TNFRSF13C TNF receptor superfamily member 13C gene DOID:9000998 Brain Injuries ISO RGD:1354073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 12187726 RABGGTA Rab geranylgeranyltransferase subunit alpha gene DOID:0060439 lysinuric protein intolerance ISO RGD:1345525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12187726 RABGGTA Rab geranylgeranyltransferase subunit alpha gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:735604 D RGD:9068941 20220825 MouseDO 12187726 RABGGTA Rab geranylgeranyltransferase subunit alpha gene DOID:630 genetic disease ISO RGD:1345525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187726 RABGGTA Rab geranylgeranyltransferase subunit alpha gene DOID:9000265 Specific Granule Deficiency ISO RGD:1345525 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12187726 RABGGTA Rab geranylgeranyltransferase subunit alpha gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1345525 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12187750 HVCN1 hydrogen voltage gated channel 1 gene DOID:0080600 COVID-19 ISO RGD:1603943 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12187750 HVCN1 hydrogen voltage gated channel 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:1310788 D RGD:9068941 20200609 RGD PMID:31250553|REF_RGD_ID:14985213 12187750 HVCN1 hydrogen voltage gated channel 1 gene DOID:630 genetic disease ISO RGD:1603943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187780 PTCD2 pentatricopeptide repeat domain 2 gene DOID:630 genetic disease ISO RGD:1321137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187780 PTCD2 pentatricopeptide repeat domain 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12187803 WDR41 WD repeat domain 41 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1314938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 12187803 WDR41 WD repeat domain 41 gene DOID:630 genetic disease ISO RGD:1314938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187803 WDR41 WD repeat domain 41 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12187832 ACE angiotensin I converting enzyme gene DOID:0050152 aspiration pneumonia ISO RGD:737323 D RGD:9068941 20200609 RGD associated with Cerebrovascular Accident PMID:14990394|REF_RGD_ID:4140926 12187832 ACE angiotensin I converting enzyme gene DOID:0050848 obstructive sleep apnea ISO RGD:2493 D RGD:9068941 20200609 RGD mRNA:increased expression:cardiac atrium PMID:24775918|REF_RGD_ID:11039043 12187832 ACE angiotensin I converting enzyme gene DOID:0050848 obstructive sleep apnea severity ISO RGD:737323 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:polymorphism (human) PMID:19482546|REF_RGD_ID:4140917 12187832 ACE angiotensin I converting enzyme gene DOID:0050848 obstructive sleep apnea susceptibility ISO RGD:737323 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:20182789|REF_RGD_ID:4140915 12187832 ACE angiotensin I converting enzyme gene DOID:0050851 glomerulosclerosis treatment ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:21718676|REF_RGD_ID:12879389 12187832 ACE angiotensin I converting enzyme gene DOID:0050855 renal fibrosis ISO RGD:737323 D RGD:9068941 20200609 RGD protein:decreased expression:renal medulla, renal cortex, brush border epithelial cell (human) PMID:10504496|REF_RGD_ID:8158033 12187832 ACE angiotensin I converting enzyme gene DOID:0050855 renal fibrosis treatment ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:10644663|REF_RGD_ID:12879403 12187832 ACE angiotensin I converting enzyme gene DOID:0050864 non-arteritic anterior ischemic optic neuropathy onset ISO RGD:737323 D RGD:9068941 20200609 RGD DNA:insertion/deletion:intron PMID:21633717|REF_RGD_ID:8548899 12187832 ACE angiotensin I converting enzyme gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:2493 D RGD:9068941 20200609 RGD associated with Colonic Neoplasms PMID:24959250|REF_RGD_ID:11039027 12187832 ACE angiotensin I converting enzyme gene DOID:0060186 chemical colitis ISO RGD:10468 D RGD:9068941 20201029 RGD protein:increased expression:small intestine, large intestine:extracellular space (mouse) PMID:26401072|REF_RGD_ID:11555935 12187832 ACE angiotensin I converting enzyme gene DOID:0060224 atrial fibrillation ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15331425 12187832 ACE angiotensin I converting enzyme gene DOID:0060224 atrial fibrillation susceptibility ISO RGD:737323 D RGD:9068941 20200609 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:19648063|PMID:23170137|REF_RGD_ID:7829797|REF_RGD_ID:8142351 12187832 ACE angiotensin I converting enzyme gene DOID:0060500 drug allergy ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18727619 12187832 ACE angiotensin I converting enzyme gene DOID:0080205 CAKUT ISO RGD:737323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:34906502 12187832 ACE angiotensin I converting enzyme gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 12187832 ACE angiotensin I converting enzyme gene DOID:0080599 Coronavirus infectious disease ISO RGD:737323 D RGD:9068941 20200609 RGD Severe Acute Respiratory Syndrome PMID:17108019|REF_RGD_ID:4140930 12187832 ACE angiotensin I converting enzyme gene DOID:0080600 COVID-19 no_association ISO RGD:737323 D RGD:9068941 20200618 RGD DNA:insertion/deletion:intron 16: PMID:32386188|REF_RGD_ID:30309201 12187832 ACE angiotensin I converting enzyme gene DOID:0080600 COVID-19 severity ISO RGD:737323 D RGD:9068941 20200618 RGD DNA:insertion/deletion:intron 16: PMID:32286246|REF_RGD_ID:30309199 12187832 ACE angiotensin I converting enzyme gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:20229187|REF_RGD_ID:2325220 12187832 ACE angiotensin I converting enzyme gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:2493 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:20798958|REF_RGD_ID:12879406 12187832 ACE angiotensin I converting enzyme gene DOID:0111128 focal segmental glomerulosclerosis 1 treatment ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:8505110|REF_RGD_ID:12880006 12187832 ACE angiotensin I converting enzyme gene DOID:0111682 diffuse cystic renal dysplasia ISO RGD:737323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to PMID:25741868|PMID:35005812 12187832 ACE angiotensin I converting enzyme gene DOID:10322 berylliosis ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10194187 12187832 ACE angiotensin I converting enzyme gene DOID:10533 viral pneumonia ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15381116 12187832 ACE angiotensin I converting enzyme gene DOID:10534 stomach cancer susceptibility ISO RGD:737323 D RGD:9068941 20201029 RGD DNA:insertion/deletion, haplotype:intron 16: PMID:17035401|REF_RGD_ID:39939122 12187832 ACE angiotensin I converting enzyme gene DOID:10591 pre-eclampsia ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17114810 12187832 ACE angiotensin I converting enzyme gene DOID:10591 pre-eclampsia onset ISO RGD:737323 D RGD:9068941 20201105 RGD DNA:insertion/deletion:intron 16: PMID:20044877|REF_RGD_ID:40400703 12187832 ACE angiotensin I converting enzyme gene DOID:10608 celiac disease ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 12187832 ACE angiotensin I converting enzyme gene DOID:10652 Alzheimer's disease ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:19080340|REF_RGD_ID:2325232 12187832 ACE angiotensin I converting enzyme gene DOID:10652 Alzheimer's disease ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10643899|PMID:14872014|PMID:17192785|PMID:30820047|PMID:9916793 12187832 ACE angiotensin I converting enzyme gene DOID:1074 kidney failure ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9259580 12187832 ACE angiotensin I converting enzyme gene DOID:10763 hypertension ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:17392119|REF_RGD_ID:1601113 12187832 ACE angiotensin I converting enzyme gene DOID:10763 hypertension ISO RGD:2493 D RGD:9068941 20200609 RGD protein:increased activity:lung (rat) PMID:16203874|REF_RGD_ID:1581743 12187832 ACE angiotensin I converting enzyme gene DOID:10763 hypertension ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15773232|PMID:17473847|PMID:20237592|PMID:27847271 12187832 ACE angiotensin I converting enzyme gene DOID:10763 hypertension susceptibility ISO RGD:737323 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:17283861|REF_RGD_ID:1601114 12187832 ACE angiotensin I converting enzyme gene DOID:10763 hypertension treatment ISO RGD:10468 D RGD:9068941 20201105 RGD PMID:27325568|REF_RGD_ID:40400899 12187832 ACE angiotensin I converting enzyme gene DOID:10763 hypertension treatment ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:24342267|PMID:3006710|REF_RGD_ID:11039415|REF_RGD_ID:8157611 12187832 ACE angiotensin I converting enzyme gene DOID:10907 microcephaly ISO RGD:737323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12187832 ACE angiotensin I converting enzyme gene DOID:10952 nephritis susceptibility ISO RGD:737323 D RGD:9068941 20200609 RGD associated with Purpura, Schoenlein-Henoch;DNA:polymorphisms,haplotype: :-240A>T,2350A>G (human) PMID:22895845|REF_RGD_ID:11533935 12187832 ACE angiotensin I converting enzyme gene DOID:11123 Henoch-Schoenlein purpura disease_progression ISO RGD:737323 D RGD:9068941 20200609 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:15315169|REF_RGD_ID:11038920 12187832 ACE angiotensin I converting enzyme gene DOID:11335 sarcoidosis ISO RGD:737323 D RGD:9068941 20201105 RGD DNA:SNP, insertion/deletion, repeat:enhancer, intron 16, 3' utr: PMID:11168787|REF_RGD_ID:40400746 12187832 ACE angiotensin I converting enzyme gene DOID:11335 sarcoidosis ISO RGD:737323 D RGD:9068941 20201105 RGD protein:increased activity:serum (human) PMID:183595|REF_RGD_ID:40400721 12187832 ACE angiotensin I converting enzyme gene DOID:11335 sarcoidosis disease_progression ISO RGD:737323 D RGD:9068941 20200609 RGD PMID:6287584|REF_RGD_ID:11039025 12187832 ACE angiotensin I converting enzyme gene DOID:11335 sarcoidosis severity ISO RGD:737323 D RGD:9068941 20201105 RGD DNA:SNP:enhancer: PMID:29229112|REF_RGD_ID:40400908 12187832 ACE angiotensin I converting enzyme gene DOID:11335 sarcoidosis severity ISO RGD:737323 D RGD:9068941 20201105 RGD DNA:insertion/deletion:intron 16: PMID:18496980|REF_RGD_ID:40400722 12187832 ACE angiotensin I converting enzyme gene DOID:11394 adult respiratory distress syndrome ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12204859|PMID:22009550 12187832 ACE angiotensin I converting enzyme gene DOID:11400 pyelonephritis ISO RGD:737323 D RGD:9068941 20200609 RGD protein:decreased expression:kidney, brush border epithelial cell (human) PMID:10504496|REF_RGD_ID:8158033 12187832 ACE angiotensin I converting enzyme gene DOID:11476 osteoporosis ISO RGD:2493 D RGD:9068941 20200609 RGD associated with Hypertension PMID:19590507|REF_RGD_ID:2325225 12187832 ACE angiotensin I converting enzyme gene DOID:11713 diabetic angiopathy ISO RGD:737323 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 3 PMID:10099885|PMID:10636736|PMID:10643899|PMID:10841123|PMID:11687636|PMID:11956052|PMID:12220450|PMID:12666117|PMID:1313972|PMID:1319114|PMID:1328889|PMID:1386652|PMID:14657821|PMID:14872014|PMID:15110771|PMID:15277638|PMID:15381116|PMID:15531537|PMID:15534175|PMID:15635071|PMID:19221299|PMID:1976655|PMID:20093180|PMID:21471972|PMID:22095942|PMID:24163131|PMID:25741868|PMID:2847529|PMID:2849100|PMID:28492532|PMID:7593601|PMID:7729604|PMID:7783416|PMID:7854377|PMID:7909524|PMID:8131299|PMID:8131300|PMID:8136829|PMID:8170965|PMID:8208911|PMID:8298638|PMID:8314010|PMID:8541160|PMID:8644984|PMID:8675669|PMID:9120002|PMID:9236417|PMID:9259580|PMID:9699903|PMID:9737775|PMID:9916793 12187832 ACE angiotensin I converting enzyme gene DOID:1184 nephrotic syndrome ISO RGD:2493 D RGD:9068941 20200609 RGD protein:increased activity:multiple PMID:2175683|REF_RGD_ID:11038913 12187832 ACE angiotensin I converting enzyme gene DOID:1184 nephrotic syndrome treatment ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:15942045|REF_RGD_ID:1598707 12187832 ACE angiotensin I converting enzyme gene DOID:11984 hypertrophic cardiomyopathy no_association ISO RGD:737323 D RGD:9068941 20200609 RGD DNA:insertion/deletion:intron PMID:9270088|REF_RGD_ID:1566491 12187832 ACE angiotensin I converting enzyme gene DOID:1205 allergic disease susceptibility ISO RGD:737323 D RGD:9068941 20200609 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:10200023|REF_RGD_ID:8142344 12187832 ACE angiotensin I converting enzyme gene DOID:12236 primary biliary cholangitis ISO RGD:2493 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:19389807|REF_RGD_ID:2325226 12187832 ACE angiotensin I converting enzyme gene DOID:12336 male infertility ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12075344|PMID:8642790 12187832 ACE angiotensin I converting enzyme gene DOID:12365 malaria severity ISO RGD:10468 D RGD:9068941 20201029 RGD PMID:31234939|REF_RGD_ID:39939120 12187832 ACE angiotensin I converting enzyme gene DOID:1240 leukemia disease_progression ISO RGD:737323 D RGD:9068941 20200609 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:12781647|REF_RGD_ID:11039000 12187832 ACE angiotensin I converting enzyme gene DOID:12549 hepatitis A ISO RGD:737323 D RGD:9068941 20201029 RGD DNA:insertion/deletion:intron 16: PMID:12458570|REF_RGD_ID:39939119 12187832 ACE angiotensin I converting enzyme gene DOID:12849 autistic disorder ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27082637 12187832 ACE angiotensin I converting enzyme gene DOID:1287 cardiovascular system disease ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11498459|PMID:14657821|PMID:16544732 12187832 ACE angiotensin I converting enzyme gene DOID:12930 dilated cardiomyopathy no_association ISO RGD:737323 D RGD:9068941 20200609 RGD DNA:insertion/deletion:intron PMID:9270088|REF_RGD_ID:1566491 12187832 ACE angiotensin I converting enzyme gene DOID:12932 endomyocardial fibrosis ISO RGD:2493 D RGD:9068941 20200609 RGD protein:increased activity:lung, heart left ventricle, plasma (rat) PMID:12131554|REF_RGD_ID:8157600 12187832 ACE angiotensin I converting enzyme gene DOID:12986 leukostasis ISO RGD:2493 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16822509|REF_RGD_ID:11039403 12187832 ACE angiotensin I converting enzyme gene DOID:13141 uveitis ISO RGD:737323 D RGD:9068941 20200609 RGD Chronic Granulomatous Uveitis;protein:increased expression:serum (human) PMID:229083|REF_RGD_ID:8142348 12187832 ACE angiotensin I converting enzyme gene DOID:1324 lung cancer susceptibility ISO RGD:737323 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:20303010|REF_RGD_ID:4140486 12187832 ACE angiotensin I converting enzyme gene DOID:13241 Behcet's disease no_association ISO RGD:737323 D RGD:9068941 20200609 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:15045629|REF_RGD_ID:8142349 12187832 ACE angiotensin I converting enzyme gene DOID:13241 Behcet's disease susceptibility ISO RGD:737323 D RGD:9068941 20200609 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:15961928|REF_RGD_ID:7829810 12187832 ACE angiotensin I converting enzyme gene DOID:13580 cholestasis ISO RGD:2493 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:30458228|REF_RGD_ID:25671450 12187832 ACE angiotensin I converting enzyme gene DOID:14115 toxic shock syndrome severity ISO RGD:737323 D RGD:9068941 20201029 RGD DNA:SNP, insertion/deletion:promoter, intron: (rs4291, rs4646994) PMID:28336767|REF_RGD_ID:39939121 12187832 ACE angiotensin I converting enzyme gene DOID:14499 Fabry disease treatment ISO RGD:737323 D RGD:9068941 20200609 RGD PMID:20941593|REF_RGD_ID:12879402 12187832 ACE angiotensin I converting enzyme gene DOID:1579 respiratory system disease ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14657821 12187832 ACE angiotensin I converting enzyme gene DOID:1591 renovascular hypertension ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:22342460|REF_RGD_ID:6893471 12187832 ACE angiotensin I converting enzyme gene DOID:1591 renovascular hypertension treatment ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:20630208|REF_RGD_ID:8157609 12187832 ACE angiotensin I converting enzyme gene DOID:1612 breast cancer susceptibility ISO RGD:737323 D RGD:9068941 20200609 RGD DNA:insertion/deletion, haplotype PMID:23828384|REF_RGD_ID:8548866 12187832 ACE angiotensin I converting enzyme gene DOID:1793 pancreatic cancer ISO RGD:10468 D RGD:9068941 20200609 RGD PMID:19880966|REF_RGD_ID:2325208 12187832 ACE angiotensin I converting enzyme gene DOID:1926 Gaucher's disease ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12359135 12187832 ACE angiotensin I converting enzyme gene DOID:2316 brain ischemia ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15534175 12187832 ACE angiotensin I converting enzyme gene DOID:2355 anemia ISO RGD:737323 D RGD:9068941 20200609 RGD PMID:23141116|REF_RGD_ID:11038919 12187832 ACE angiotensin I converting enzyme gene DOID:2355 anemia ISO RGD:737323 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung;DNA:deletion:intron:IVS16+1464-1751del (human) PMID:18156303|REF_RGD_ID:11038916 12187832 ACE angiotensin I converting enzyme gene DOID:2527 nephrosis ISO RGD:2493 D RGD:9068941 20200609 RGD protein:increased activity:multiple (rats) PMID:8303709|REF_RGD_ID:8157608 12187832 ACE angiotensin I converting enzyme gene DOID:2527 nephrosis treatment ISO RGD:2493 D RGD:9068941 20200609 RGD Adriamycin Nephrosis PMID:8665777|REF_RGD_ID:12879388 12187832 ACE angiotensin I converting enzyme gene DOID:2746 glycogen storage disease V ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12666117 12187832 ACE angiotensin I converting enzyme gene DOID:2799 bronchiolitis obliterans ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:17097496|REF_RGD_ID:4140933 12187832 ACE angiotensin I converting enzyme gene DOID:2841 asthma susceptibility ISO RGD:737323 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:19383228|PMID:19484664|REF_RGD_ID:4140913|REF_RGD_ID:4140919 12187832 ACE angiotensin I converting enzyme gene DOID:2921 glomerulonephritis ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:19164508|REF_RGD_ID:2325229 12187832 ACE angiotensin I converting enzyme gene DOID:2945 severe acute respiratory syndrome ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15381116 12187832 ACE angiotensin I converting enzyme gene DOID:2986 IgA glomerulonephritis ISO RGD:737323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Susceptibility to progression to renal failure in IgA nephropathy PMID:10099885|PMID:10636736|PMID:10643899|PMID:10841123|PMID:11687636|PMID:11956052|PMID:12220450|PMID:12666117|PMID:1313972|PMID:1319114|PMID:1328889|PMID:1386652|PMID:14657821|PMID:14872014|PMID:15110771|PMID:15277638|PMID:15381116|PMID:15531537|PMID:15534175|PMID:15635071|PMID:19221299|PMID:1976655|PMID:2847529|PMID:2849100|PMID:7593601|PMID:7729604|PMID:7783416|PMID:7854377|PMID:7909524|PMID:8131299|PMID:8131300|PMID:8136829|PMID:8170965|PMID:8208911|PMID:8298638|PMID:8314010|PMID:8541160|PMID:8644984|PMID:8675669|PMID:9120002|PMID:9236417|PMID:9259580|PMID:9699903|PMID:9737775|PMID:9916793 12187832 ACE angiotensin I converting enzyme gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:737323 D RGD:9068941 20200609 RGD DNA:polymorphism:intron: PMID:12220450|REF_RGD_ID:7257515 12187832 ACE angiotensin I converting enzyme gene DOID:2987 familial Mediterranean fever susceptibility ISO RGD:737323 D RGD:9068941 20201105 RGD DNA:insertion/deletion:intron 16: PMID:24680475|REF_RGD_ID:40400709 12187832 ACE angiotensin I converting enzyme gene DOID:299 adenocarcinoma ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 12187832 ACE angiotensin I converting enzyme gene DOID:3021 acute kidney failure treatment ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:24502693|REF_RGD_ID:11039053 12187832 ACE angiotensin I converting enzyme gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737323 D RGD:9068941 20200609 RGD PMID:20096799|REF_RGD_ID:4140487 12187832 ACE angiotensin I converting enzyme gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:737323 D RGD:9068941 20200609 RGD PMID:19493329|REF_RGD_ID:4140912 12187832 ACE angiotensin I converting enzyme gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:737323 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:20156752|REF_RGD_ID:4140480 12187832 ACE angiotensin I converting enzyme gene DOID:3393 coronary artery disease ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14989558 12187832 ACE angiotensin I converting enzyme gene DOID:3393 coronary artery disease susceptibility ISO RGD:737323 D RGD:9068941 20200609 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:12975417|REF_RGD_ID:1566498 12187832 ACE angiotensin I converting enzyme gene DOID:3500 gallbladder adenocarcinoma ISO RGD:737323 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs4646994 (human) PMID:20438364|REF_RGD_ID:2325207 12187832 ACE angiotensin I converting enzyme gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:24471927|REF_RGD_ID:11039026 12187832 ACE angiotensin I converting enzyme gene DOID:3526 cerebral infarction ISO RGD:737323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ischemic stroke, susceptibility to PMID:10099885|PMID:10636736|PMID:10643899|PMID:10841123|PMID:11687636|PMID:11956052|PMID:12220450|PMID:12666117|PMID:1313972|PMID:1319114|PMID:1328889|PMID:1386652|PMID:14657821|PMID:14872014|PMID:15110771|PMID:15277638|PMID:15381116|PMID:15531537|PMID:15534175|PMID:15635071|PMID:19221299|PMID:1976655|PMID:2847529|PMID:2849100|PMID:7593601|PMID:7729604|PMID:7783416|PMID:7854377|PMID:7909524|PMID:8131299|PMID:8131300|PMID:8136829|PMID:8170965|PMID:8208911|PMID:8298638|PMID:8314010|PMID:8541160|PMID:8644984|PMID:8675669|PMID:9120002|PMID:9236417|PMID:9259580|PMID:9699903|PMID:9737775|PMID:9916793 12187832 ACE angiotensin I converting enzyme gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737323 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:17481528|REF_RGD_ID:2325211 12187832 ACE angiotensin I converting enzyme gene DOID:3770 pulmonary fibrosis ISO RGD:10468 D RGD:9068941 20200609 RGD associated with Lung Injury PMID:20651228|REF_RGD_ID:4140478 12187832 ACE angiotensin I converting enzyme gene DOID:3770 pulmonary fibrosis ISO RGD:2493 D RGD:9068941 20200609 RGD associated with Hypertension PMID:17506718|REF_RGD_ID:4140923 12187832 ACE angiotensin I converting enzyme gene DOID:3770 pulmonary fibrosis ISO RGD:2493 D RGD:9068941 20200609 RGD associated with Lung Injury;protein:decreased expression:lung PMID:20581171|REF_RGD_ID:4140483 12187832 ACE angiotensin I converting enzyme gene DOID:3770 pulmonary fibrosis ISO RGD:2493 D RGD:9068941 20200609 RGD associated with Radiation Pneumonitis PMID:17506716|REF_RGD_ID:4140925 12187832 ACE angiotensin I converting enzyme gene DOID:3770 pulmonary fibrosis ISO RGD:737323 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:33007385 12187832 ACE angiotensin I converting enzyme gene DOID:3827 congenital diaphragmatic hernia ISO RGD:2493 D RGD:9068941 20200609 RGD protein:increased activity:lung (rat) PMID:9498404|REF_RGD_ID:12859277 12187832 ACE angiotensin I converting enzyme gene DOID:3905 lung carcinoma ISO RGD:737323 D RGD:9068941 20201105 RGD protein:decreased activity:serum (human) PMID:183595|REF_RGD_ID:40400721 12187832 ACE angiotensin I converting enzyme gene DOID:4079 heart valve disease susceptibility ISO RGD:737323 D RGD:9068941 20201105 RGD associated with rheumatic fever;DNA:insertion/deletion:intron 16: PMID:12578328|REF_RGD_ID:40400707 12187832 ACE angiotensin I converting enzyme gene DOID:418 systemic scleroderma ISO RGD:737323 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:17360781|REF_RGD_ID:8548889 12187832 ACE angiotensin I converting enzyme gene DOID:4247 coronary restenosis ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9236417 12187832 ACE angiotensin I converting enzyme gene DOID:4481 allergic rhinitis no_association ISO RGD:737323 D RGD:9068941 20200609 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:15112973|REF_RGD_ID:8142345 12187832 ACE angiotensin I converting enzyme gene DOID:5082 liver cirrhosis ISO RGD:737323 D RGD:9068941 20201105 RGD associated with Chronic Hepatitis B;protein:increased expression:blood serum (human) PMID:29085215|REF_RGD_ID:40400898 12187832 ACE angiotensin I converting enzyme gene DOID:5082 liver cirrhosis no_association ISO RGD:737323 D RGD:9068941 20201029 RGD associated with liver disease;DNA:insertion/deletion: PMID:26681055|REF_RGD_ID:11537135 12187832 ACE angiotensin I converting enzyme gene DOID:5082 liver cirrhosis severity ISO RGD:737323 D RGD:9068941 20201029 RGD associated with hepatitis C;DNA:insertion/deletion: PMID:19456900|REF_RGD_ID:39939123 12187832 ACE angiotensin I converting enzyme gene DOID:5082 liver cirrhosis treatment ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:28822808|PMID:29335866|REF_RGD_ID:25671453|REF_RGD_ID:25671454 12187832 ACE angiotensin I converting enzyme gene DOID:5199 ureteral obstruction treatment ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:21667191|REF_RGD_ID:12880020 12187832 ACE angiotensin I converting enzyme gene DOID:5419 schizophrenia ISO RGD:737323 D RGD:9068941 20201029 RGD protein:decreased activity:plasma (human) PMID:26296754|REF_RGD_ID:11353163 12187832 ACE angiotensin I converting enzyme gene DOID:552 pneumonia ISO RGD:737323 D RGD:9068941 20200609 RGD PMID:17727310|REF_RGD_ID:4140922 12187832 ACE angiotensin I converting enzyme gene DOID:552 pneumonia ISO RGD:737323 D RGD:9068941 20200609 RGD associated with Hypertension PMID:20051911|REF_RGD_ID:4140916 12187832 ACE angiotensin I converting enzyme gene DOID:552 pneumonia disease_progression ISO RGD:737323 D RGD:9068941 20200609 RGD PMID:19455553|REF_RGD_ID:4140918 12187832 ACE angiotensin I converting enzyme gene DOID:557 kidney disease ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8642790 12187832 ACE angiotensin I converting enzyme gene DOID:576 proteinuria severity ISO RGD:737323 D RGD:9068941 20200609 RGD associated with Henoch-Schoenlein purpura;DNA:deletion:intron:IVS16+1464- 1751del (human) PMID:10193250|REF_RGD_ID:11038828 12187832 ACE angiotensin I converting enzyme gene DOID:576 proteinuria treatment ISO RGD:2493 D RGD:9068941 20200609 RGD associated with Acute Kidney Injury PMID:10844603|REF_RGD_ID:12879396 12187832 ACE angiotensin I converting enzyme gene DOID:5844 myocardial infarction ISO RGD:737323 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:10099885|PMID:10636736|PMID:10643899|PMID:10841123|PMID:11687636|PMID:11956052|PMID:12220450|PMID:12666117|PMID:1313972|PMID:1319114|PMID:1328889|PMID:1386652|PMID:14657821|PMID:14872014|PMID:15110771|PMID:15277638|PMID:15381116|PMID:15531537|PMID:15534175|PMID:15635071|PMID:19221299|PMID:1976655|PMID:25741868|PMID:2847529|PMID:2849100|PMID:28492532|PMID:7593601|PMID:7729604|PMID:7783416|PMID:7854377|PMID:7909524|PMID:8131299|PMID:8131300|PMID:8136829|PMID:8170965|PMID:8208911|PMID:8298638|PMID:8314010|PMID:8541160|PMID:8644984|PMID:8675669|PMID:9120002|PMID:9236417|PMID:9259580|PMID:9699903|PMID:9737775|PMID:9916793 12187832 ACE angiotensin I converting enzyme gene DOID:5844 myocardial infarction susceptibility ISO RGD:737323 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del (human) PMID:7555560|REF_RGD_ID:7829785 12187832 ACE angiotensin I converting enzyme gene DOID:5844 myocardial infarction treatment ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:15671045|PMID:23959549|REF_RGD_ID:1558664|REF_RGD_ID:9685449 12187832 ACE angiotensin I converting enzyme gene DOID:6000 congestive heart failure ISO RGD:2493 D RGD:9068941 20200609 RGD associated with Hypertension PMID:22123369|REF_RGD_ID:6893472 12187832 ACE angiotensin I converting enzyme gene DOID:6000 congestive heart failure ISO RGD:2493 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:19620082|REF_RGD_ID:2325224 12187832 ACE angiotensin I converting enzyme gene DOID:6000 congestive heart failure ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18586661 12187832 ACE angiotensin I converting enzyme gene DOID:6000 congestive heart failure treatment ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:15894569|REF_RGD_ID:12859272 12187832 ACE angiotensin I converting enzyme gene DOID:61 mitral valve disease susceptibility ISO RGD:737323 D RGD:9068941 20201105 RGD DNA:insertion/deletion:intron 16: PMID:14765837|REF_RGD_ID:40400724 12187832 ACE angiotensin I converting enzyme gene DOID:630 genetic disease ISO RGD:737323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12187832 ACE angiotensin I converting enzyme gene DOID:6432 pulmonary hypertension ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12359135 12187832 ACE angiotensin I converting enzyme gene DOID:684 hepatocellular carcinoma ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16328049 12187832 ACE angiotensin I converting enzyme gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737323 D RGD:9068941 20201105 RGD DNA:insertion/deletion:intron 16: PMID:25208933|REF_RGD_ID:11343535 12187832 ACE angiotensin I converting enzyme gene DOID:7147 ankylosing spondylitis susceptibility ISO RGD:737323 D RGD:9068941 20200609 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:22876137|REF_RGD_ID:7829800 12187832 ACE angiotensin I converting enzyme gene DOID:7693 abdominal aortic aneurysm treatment ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:24602481|REF_RGD_ID:11039028 12187832 ACE angiotensin I converting enzyme gene DOID:783 end stage renal disease ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10099885|PMID:7593601 12187832 ACE angiotensin I converting enzyme gene DOID:783 end stage renal disease ISO RGD:737323 D RGD:9068941 20200609 RGD associated with Vesico-Ureteral Reflux;DNA:deletion PMID:20149750|REF_RGD_ID:6903283 12187832 ACE angiotensin I converting enzyme gene DOID:783 end stage renal disease susceptibility ISO RGD:737323 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:deletion:intron:IVS16+1464-1751del (human) PMID:16385653|REF_RGD_ID:8142355 12187832 ACE angiotensin I converting enzyme gene DOID:783 end stage renal disease treatment ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:14586729|REF_RGD_ID:12879398 12187832 ACE angiotensin I converting enzyme gene DOID:790 ocular hypotension ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:24583339|REF_RGD_ID:11039029 12187832 ACE angiotensin I converting enzyme gene DOID:820 myocarditis treatment ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:24709159|REF_RGD_ID:11039042 12187832 ACE angiotensin I converting enzyme gene DOID:841 extrinsic allergic alveolitis ISO RGD:737323 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19218674|REF_RGD_ID:4140920 12187832 ACE angiotensin I converting enzyme gene DOID:8432 polycythemia treatment ISO RGD:737323 D RGD:9068941 20200609 RGD PMID:18339134|REF_RGD_ID:11038827 12187832 ACE angiotensin I converting enzyme gene DOID:850 lung disease ISO RGD:10468 D RGD:9068941 20200609 RGD Lung Injury PMID:20723410|REF_RGD_ID:5129168 12187832 ACE angiotensin I converting enzyme gene DOID:850 lung disease ISO RGD:10468 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:20004673|REF_RGD_ID:4140488 12187832 ACE angiotensin I converting enzyme gene DOID:850 lung disease ISO RGD:2493 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:19114890|REF_RGD_ID:2325231 12187832 ACE angiotensin I converting enzyme gene DOID:850 lung disease ISO RGD:2493 D RGD:9068941 20200609 RGD associated with Poisoning;mRNA:decreased expression:lung PMID:20465954|REF_RGD_ID:4140485 12187832 ACE angiotensin I converting enzyme gene DOID:850 lung disease ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18702808 12187832 ACE angiotensin I converting enzyme gene DOID:8552 chronic myeloid leukemia ISO RGD:737323 D RGD:9068941 20200609 RGD PMID:19761684|REF_RGD_ID:11039056 12187832 ACE angiotensin I converting enzyme gene DOID:8646 substance-induced psychosis ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17196621 12187832 ACE angiotensin I converting enzyme gene DOID:8719 in situ carcinoma ISO RGD:10468 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:19880966|REF_RGD_ID:2325208 12187832 ACE angiotensin I converting enzyme gene DOID:8805 intermediate coronary syndrome ISO RGD:737323 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium PMID:11451295|REF_RGD_ID:8548894 12187832 ACE angiotensin I converting enzyme gene DOID:8805 intermediate coronary syndrome ISO RGD:737323 D RGD:9068941 20200609 RGD mRNA:increased expression:ventricular myocardium (human) PMID:15131005|REF_RGD_ID:8142363 12187832 ACE angiotensin I converting enzyme gene DOID:8947 diabetic retinopathy ISO RGD:737323 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum (human) PMID:2157294|REF_RGD_ID:8142360 12187832 ACE angiotensin I converting enzyme gene DOID:8947 diabetic retinopathy no_association ISO RGD:737323 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del (human) PMID:7729604|REF_RGD_ID:7829780 12187832 ACE angiotensin I converting enzyme gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:737323 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:deletion:intron:IVS16+1464-1751del (human) PMID:11106834|REF_RGD_ID:7829783 12187832 ACE angiotensin I converting enzyme gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:737323 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snp:exon:g.2350G>A (rs4343) (human) PMID:23065222|REF_RGD_ID:7829794 12187832 ACE angiotensin I converting enzyme gene DOID:8970 subacute sclerosing panencephalitis ISO RGD:737323 D RGD:9068941 20201105 RGD DNA:insertion/deletion: PMID:16741935|REF_RGD_ID:40400901 12187832 ACE angiotensin I converting enzyme gene DOID:9000064 Cardiac Arrhythmias ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15331425 12187832 ACE angiotensin I converting enzyme gene DOID:9000064 Cardiac Arrhythmias ISO RGD:737323 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic;DNA:insertion/deletion PMID:16105049|REF_RGD_ID:8548864 12187832 ACE angiotensin I converting enzyme gene DOID:9000099 Experimental Colitis treatment ISO RGD:10468 D RGD:9068941 20201105 RGD PMID:17342403|PMID:24239644|REF_RGD_ID:40400720|REF_RGD_ID:40400748 12187832 ACE angiotensin I converting enzyme gene DOID:9000184 Ventricular Fibrillation treatment ISO RGD:2493 D RGD:9068941 20200609 RGD associated with Myocardial Reperfusion Injury PMID:25663023|REF_RGD_ID:11039030 12187832 ACE angiotensin I converting enzyme gene DOID:9000217 Stomach Neoplasms ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18059164 12187832 ACE angiotensin I converting enzyme gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:2493 D RGD:9068941 20200609 RGD mRNA:increased expression:carotid body PMID:24036592|REF_RGD_ID:11039031 12187832 ACE angiotensin I converting enzyme gene DOID:9000310 Lung Injury ISO RGD:737323 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16001071|PMID:33007385 12187832 ACE angiotensin I converting enzyme gene DOID:9000352 Vascular System Injuries ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19258495 12187832 ACE angiotensin I converting enzyme gene DOID:9000352 Vascular System Injuries susceptibility ISO RGD:2493 D RGD:9068941 20200609 RGD DNA:repeat:intron:IVS13+40(CA)?-26 (rat) PMID:9484988|REF_RGD_ID:8157602 12187832 ACE angiotensin I converting enzyme gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18727619 12187832 ACE angiotensin I converting enzyme gene DOID:9000528 Coronary Disease ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8170965 12187832 ACE angiotensin I converting enzyme gene DOID:9000528 Coronary Disease susceptibility ISO RGD:737323 D RGD:9068941 20200609 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:9488209|REF_RGD_ID:8142364 12187832 ACE angiotensin I converting enzyme gene DOID:9000641 Pain ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:18555989|REF_RGD_ID:2325233 12187832 ACE angiotensin I converting enzyme gene DOID:9000965 Neoplasm Metastasis ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18059164 12187832 ACE angiotensin I converting enzyme gene DOID:9001136 Familial Cerebral Cavernous Malformation ISO RGD:737323 D RGD:9068941 20200609 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:20488708|REF_RGD_ID:11039024 12187832 ACE angiotensin I converting enzyme gene DOID:9001285 Alcoholic Liver Diseases severity ISO RGD:737323 D RGD:9068941 20200609 RGD protein:increased activity:serum (human) PMID:3028446|REF_RGD_ID:19165343 12187832 ACE angiotensin I converting enzyme gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:737323 D RGD:9068941 20201105 RGD PMID:28691216|REF_RGD_ID:40400719 12187832 ACE angiotensin I converting enzyme gene DOID:9001415 Mycobacterium Infections ISO RGD:737323 D RGD:9068941 20201203 RGD associated with pulmonary sarcoidosis;protein:increased expression:blood serum (human) PMID:15881283|REF_RGD_ID:40818305 12187832 ACE angiotensin I converting enzyme gene DOID:9001542 Albuminuria ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23733546 12187832 ACE angiotensin I converting enzyme gene DOID:9001542 Albuminuria ISO RGD:737323 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased activity:serum (human) PMID:1336356|REF_RGD_ID:7829770 12187832 ACE angiotensin I converting enzyme gene DOID:9001542 Albuminuria treatment ISO RGD:2493 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies PMID:16902320|REF_RGD_ID:12879427 12187832 ACE angiotensin I converting enzyme gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2493 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:23663763|REF_RGD_ID:25671457 12187832 ACE angiotensin I converting enzyme gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2493 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:8445218|REF_RGD_ID:25671458 12187832 ACE angiotensin I converting enzyme gene DOID:9001573 Experimental Liver Cirrhosis severity ISO RGD:2493 D RGD:9068941 20200609 RGD mRNA: increased expression:liver (rat) PMID:19424597|REF_RGD_ID:25671449 12187832 ACE angiotensin I converting enzyme gene DOID:9001573 Experimental Liver Cirrhosis severity ISO RGD:2493 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:24035938|REF_RGD_ID:21408579 12187832 ACE angiotensin I converting enzyme gene DOID:9001650 Pregnancy-Induced Hypertension ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:17977916|REF_RGD_ID:8548898 12187832 ACE angiotensin I converting enzyme gene DOID:9001916 Fetal Death ISO RGD:737323 D RGD:9068941 20200609 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:11085286|REF_RGD_ID:11038921 12187832 ACE angiotensin I converting enzyme gene DOID:9001981 Weight Loss ISO RGD:737323 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:33007385 12187832 ACE angiotensin I converting enzyme gene DOID:9002165 Diabetic Nephropathies ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:19301230|REF_RGD_ID:2311449 12187832 ACE angiotensin I converting enzyme gene DOID:9002165 Diabetic Nephropathies ISO RGD:737323 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:insertion/deletion PMID:10862638|REF_RGD_ID:8548872 12187832 ACE angiotensin I converting enzyme gene DOID:9002165 Diabetic Nephropathies ISO RGD:737323 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:10099885|PMID:10857950|PMID:23733546|PMID:28468961|PMID:7909524 12187832 ACE angiotensin I converting enzyme gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:737323 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del (human) PMID:7729604|REF_RGD_ID:7829780 12187832 ACE angiotensin I converting enzyme gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:737323 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:insertion/deletion PMID:11938025|REF_RGD_ID:8548885 12187832 ACE angiotensin I converting enzyme gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:737323 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del (human) PMID:8314010|REF_RGD_ID:7829777 12187832 ACE angiotensin I converting enzyme gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2493 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23803175|REF_RGD_ID:11039044 12187832 ACE angiotensin I converting enzyme gene DOID:9002231 Fetal Growth Retardation ISO RGD:2493 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:24847689|REF_RGD_ID:12879387 12187832 ACE angiotensin I converting enzyme gene DOID:9002304 Prostatic Neoplasms ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17465223 12187832 ACE angiotensin I converting enzyme gene DOID:9002457 Experimental Arthritis ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:20213806|REF_RGD_ID:2325221 12187832 ACE angiotensin I converting enzyme gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:10468 D RGD:9068941 20200609 RGD PMID:19270231|REF_RGD_ID:12879821 12187832 ACE angiotensin I converting enzyme gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:15770604|REF_RGD_ID:12879430 12187832 ACE angiotensin I converting enzyme gene DOID:9002676 Cerebral Hemorrhage ISO RGD:737323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to | ClinVar Annotator: match by term: Intracerebral hemorrhage PMID:10099885|PMID:10636736|PMID:10643899|PMID:10841123|PMID:11687636|PMID:11956052|PMID:12220450|PMID:12666117|PMID:1313972|PMID:1319114|PMID:1328889|PMID:1386652|PMID:14657821|PMID:14872014|PMID:15110771|PMID:15277638|PMID:15381116|PMID:15531537|PMID:15534175|PMID:15635071|PMID:19221299|PMID:1976655|PMID:25741868|PMID:2847529|PMID:2849100|PMID:7593601|PMID:7729604|PMID:7783416|PMID:7854377|PMID:7909524|PMID:8131299|PMID:8131300|PMID:8136829|PMID:8170965|PMID:8208911|PMID:8298638|PMID:8314010|PMID:8541160|PMID:8644984|PMID:8675669|PMID:9120002|PMID:9236417|PMID:9259580|PMID:9699903|PMID:9737775|PMID:9916793 12187832 ACE angiotensin I converting enzyme gene DOID:9002721 Hypertensive Nephrosclerosis severity ISO RGD:737323 D RGD:9068941 20201120 RGD protein:increased expression:nephron tubule, kidney interstitium (human) PMID:21346373|REF_RGD_ID:40818408 12187832 ACE angiotensin I converting enzyme gene DOID:9002721 Hypertensive Nephrosclerosis treatment ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:10580398|REF_RGD_ID:12879397 12187832 ACE angiotensin I converting enzyme gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia ISO RGD:737323 D RGD:9068941 20201105 RGD associated with acute leukemia;DNA:insertion/deletion:intron 16: PMID:24819208|REF_RGD_ID:11530041 12187832 ACE angiotensin I converting enzyme gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia severity ISO RGD:737323 D RGD:9068941 20200609 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:15806540|REF_RGD_ID:11038917 12187832 ACE angiotensin I converting enzyme gene DOID:9003379 Radiation Nephropathy treatment ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:8995730|REF_RGD_ID:12880012 12187832 ACE angiotensin I converting enzyme gene DOID:9003505 Venous Thromboembolism susceptibility ISO RGD:737323 D RGD:9068941 20200609 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:10937809|REF_RGD_ID:11038826 12187832 ACE angiotensin I converting enzyme gene DOID:9003758 Banti's Syndrome ISO RGD:737323 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21290180|REF_RGD_ID:25671452 12187832 ACE angiotensin I converting enzyme gene DOID:9003936 Cardiomegaly treatment ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:24342267|REF_RGD_ID:11039415 12187832 ACE angiotensin I converting enzyme gene DOID:9004009 Reperfusion Injury ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:20436217|REF_RGD_ID:2325213 12187832 ACE angiotensin I converting enzyme gene DOID:9004017 Chronic Hepatitis C ISO RGD:737323 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:29641775|REF_RGD_ID:25671451 12187832 ACE angiotensin I converting enzyme gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:27147779|REF_RGD_ID:25671456 12187832 ACE angiotensin I converting enzyme gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:737323 D RGD:9068941 20201105 RGD PMID:17106926|REF_RGD_ID:40400711 12187832 ACE angiotensin I converting enzyme gene DOID:9004484 Sepsis susceptibility ISO RGD:737323 D RGD:9068941 20201105 RGD DNA:insertion/deletion:intron: PMID:19143971|REF_RGD_ID:40400706 12187832 ACE angiotensin I converting enzyme gene DOID:9004610 Acute Lung Injury treatment ISO RGD:10468 D RGD:9068941 20201105 RGD associated wit Escherichia coli Infections PMID:29990483|REF_RGD_ID:40400897 12187832 ACE angiotensin I converting enzyme gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:2493 D RGD:9068941 20200609 RGD protein:increased activity:lung, heart left ventricle, plasma (rat) PMID:12131554|REF_RGD_ID:8157600 12187832 ACE angiotensin I converting enzyme gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8349331 12187832 ACE angiotensin I converting enzyme gene DOID:9004616 Left Ventricular Hypertrophy susceptibility ISO RGD:737323 D RGD:9068941 20200609 RGD associated with Hypertension, Essential;DNA:deletion:intron:IVS16+1464-1751del (human) PMID:17625392|REF_RGD_ID:8142350 12187832 ACE angiotensin I converting enzyme gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:2493 D RGD:9068941 20200609 RGD associated with Aortic Coarctation PMID:10072897|PMID:9344638|REF_RGD_ID:12879391|REF_RGD_ID:12880015 12187832 ACE angiotensin I converting enzyme gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:737323 D RGD:9068941 20200609 RGD associated with Anemia PMID:15503682|REF_RGD_ID:11038918 12187832 ACE angiotensin I converting enzyme gene DOID:9004657 Weight Gain ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25322899 12187832 ACE angiotensin I converting enzyme gene DOID:9004676 Premature Infant Diseases ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14657821 12187832 ACE angiotensin I converting enzyme gene DOID:9005172 Lung Neoplasms ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 12187832 ACE angiotensin I converting enzyme gene DOID:9005605 Arteriovenous Fistula ISO RGD:2493 D RGD:9068941 20200609 RGD protein:increased activity:heart left ventricle (rat) PMID:22768235|REF_RGD_ID:12859285 12187832 ACE angiotensin I converting enzyme gene DOID:9005605 Arteriovenous Fistula treatment ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:8386093|REF_RGD_ID:12880017 12187832 ACE angiotensin I converting enzyme gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2493 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:18679036|REF_RGD_ID:2313799 12187832 ACE angiotensin I converting enzyme gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22191573 12187832 ACE angiotensin I converting enzyme gene DOID:9005883 Pleural Effusion ISO RGD:737323 D RGD:9068941 20201120 RGD associated with tuberculosis;protein:increased activity:pleural fluid (human) PMID:23091417|REF_RGD_ID:40818411 12187832 ACE angiotensin I converting enzyme gene DOID:9005930 Endotoxemia ISO RGD:2493 D RGD:9068941 20200609 RGD associated with Hemorrhage;protein:decreased activity:plasma (rat) PMID:3028670|REF_RGD_ID:8142370 12187832 ACE angiotensin I converting enzyme gene DOID:9006024 Hypotension ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3544871 12187832 ACE angiotensin I converting enzyme gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:2493 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased activity:heart right ventricle (rat) PMID:7585810|REF_RGD_ID:8142368 12187832 ACE angiotensin I converting enzyme gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:737323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal tubular dysgenesis PMID:16116425|PMID:20093180|PMID:20416077|PMID:21471972|PMID:22095942|PMID:22829467|PMID:24033266|PMID:24163131|PMID:25741868|PMID:28492532|PMID:33532864|PMID:34906502 12187832 ACE angiotensin I converting enzyme gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:21680852|REF_RGD_ID:6893484 12187832 ACE angiotensin I converting enzyme gene DOID:9006262 Cytomegalovirus Infections ISO RGD:737323 D RGD:9068941 20201105 RGD associated with essential hypertension:DNA:hypomethylation PMID:29752343|REF_RGD_ID:40400905 12187832 ACE angiotensin I converting enzyme gene DOID:9006618 Liver Metastasis ISO RGD:10468 D RGD:9068941 20200609 RGD associated with colorectal cancer;mRNA:increased expression:liver (mouse) PMID:20380732|REF_RGD_ID:25671446 12187832 ACE angiotensin I converting enzyme gene DOID:9006697 Congenital Hepatic Fibrosis ISO RGD:2493 D RGD:9068941 20200609 RGD associated with Polycystic Kidney, Autosomal Recessive;mRNA:increased expression:liver PMID:20400910|REF_RGD_ID:2325215 12187832 ACE angiotensin I converting enzyme gene DOID:9006741 Acute Hepatitis treatment ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:31385307|REF_RGD_ID:25671455 12187832 ACE angiotensin I converting enzyme gene DOID:9006832 Puromycin Aminonucleoside Nephrosis treatment ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:3392211|REF_RGD_ID:12879820 12187832 ACE angiotensin I converting enzyme gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:2493 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22595130|REF_RGD_ID:9685456 12187832 ACE angiotensin I converting enzyme gene DOID:9007073 Cough ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12848919|PMID:15498266 12187832 ACE angiotensin I converting enzyme gene DOID:9007073 Cough ISO RGD:737323 D RGD:9068941 20200609 RGD PMID:20364557|REF_RGD_ID:4140914 12187832 ACE angiotensin I converting enzyme gene DOID:9007096 Stroke ISO RGD:737323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CEREBROVASCULAR ACCIDENT PMID:10099885|PMID:10636736|PMID:10643899|PMID:10841123|PMID:11687636|PMID:11956052|PMID:12220450|PMID:12666117|PMID:1313972|PMID:1319114|PMID:1328889|PMID:1386652|PMID:14657821|PMID:14872014|PMID:15110771|PMID:15277638|PMID:15381116|PMID:15531537|PMID:15534175|PMID:15635071|PMID:19221299|PMID:1976655|PMID:2847529|PMID:2849100|PMID:7593601|PMID:7729604|PMID:7783416|PMID:7854377|PMID:7909524|PMID:8131299|PMID:8131300|PMID:8136829|PMID:8170965|PMID:8208911|PMID:8298638|PMID:8314010|PMID:8541160|PMID:8644984|PMID:8675669|PMID:9120002|PMID:9236417|PMID:9259580|PMID:9699903|PMID:9737775|PMID:9916793 12187832 ACE angiotensin I converting enzyme gene DOID:9007096 Stroke treatment ISO RGD:737323 D RGD:9068941 20201105 RGD PMID:15256675|REF_RGD_ID:40400712 12187832 ACE angiotensin I converting enzyme gene DOID:9007174 Ventricular Remodeling treatment ISO RGD:2493 D RGD:9068941 20200609 RGD associated with Acute Kidney Injury PMID:18223026|REF_RGD_ID:9685440 12187832 ACE angiotensin I converting enzyme gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2493 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25143335|REF_RGD_ID:25671447 12187832 ACE angiotensin I converting enzyme gene DOID:9007480 Hyperoxia ISO RGD:2493 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (rat) PMID:21791939|REF_RGD_ID:12880008 12187832 ACE angiotensin I converting enzyme gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:15001561|REF_RGD_ID:13515113 12187832 ACE angiotensin I converting enzyme gene DOID:9007820 Sudden Death ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15331425 12187832 ACE angiotensin I converting enzyme gene DOID:9007908 Aortic Coarctation ISO RGD:2493 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium (rat) PMID:18419956|REF_RGD_ID:12859271 12187832 ACE angiotensin I converting enzyme gene DOID:9008023 Memory Disorders ISO RGD:2493 D RGD:9068941 20200609 RGD PMID:21864581|REF_RGD_ID:6893483 12187832 ACE angiotensin I converting enzyme gene DOID:9008114 Helicobacter Infections susceptibility ISO RGD:737323 D RGD:9068941 20201105 RGD DNA:insertion/deletion:intron: PMID:28746216|REF_RGD_ID:40400710 12187832 ACE angiotensin I converting enzyme gene DOID:9008366 Meningococcal Infections ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11956052 12187832 ACE angiotensin I converting enzyme gene DOID:9008705 Angiotensin I-Converting Enzyme, Benign Serum Increase ISO RGD:737323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angiotensin i-converting enzyme, benign serum increase PMID:11076943|PMID:11551873|PMID:14694062 12187832 ACE angiotensin I converting enzyme gene DOID:9008885 Staphylococcal Infections ISO RGD:737323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8186310 12187832 ACE angiotensin I converting enzyme gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737323 D RGD:9068941 20200609 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:24452036|REF_RGD_ID:8142353 12187832 ACE angiotensin I converting enzyme gene DOID:9538 multiple myeloma ISO RGD:737323 D RGD:9068941 20200609 RGD protein:increased activity:serum PMID:22345095|REF_RGD_ID:11038914 12187832 ACE angiotensin I converting enzyme gene DOID:9744 type 1 diabetes mellitus ISO RGD:737323 D RGD:9068941 20200609 RGD protein:increased activity:serum (human) PMID:1336356|REF_RGD_ID:7829770 12187832 ACE angiotensin I converting enzyme gene DOID:9744 type 1 diabetes mellitus disease progression ISO RGD:737323 D RGD:9068941 20200609 RGD DNA:deletion:intron:IVS16+1464-1751del (human) PMID:9025006|REF_RGD_ID:7829799 12187832 ACE angiotensin I converting enzyme gene DOID:9775 diastolic heart failure severity ISO RGD:737323 D RGD:9068941 20201105 RGD DNS:insertion/deletion:intron: (rs1799752) PMID:19752885|REF_RGD_ID:40400704 12187832 ACE angiotensin I converting enzyme gene DOID:9775 diastolic heart failure susceptibility ISO RGD:737323 D RGD:9068941 20201105 RGD DNA:insertion/deletion:intron 16: PMID:19021695|REF_RGD_ID:40400906 12187832 ACE angiotensin I converting enzyme gene DOID:9775 diastolic heart failure treatment ISO RGD:2493 D RGD:9068941 20201105 RGD PMID:14757777|REF_RGD_ID:40400723 12187832 ACE angiotensin I converting enzyme gene DOID:988 mitral valve prolapse severity ISO RGD:737323 D RGD:9068941 20200609 RGD associated with Marfan Syndrome;DNA:polymorphism,haplotype: PMID:17379330|REF_RGD_ID:13432357 12187832 ACE angiotensin I converting enzyme gene DOID:9970 obesity ISO RGD:2493 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19361967|REF_RGD_ID:2325227 12187832 ACE angiotensin I converting enzyme gene DOID:9970 obesity no_association ISO RGD:737323 D RGD:9068941 20200609 RGD PMID:17164796|REF_RGD_ID:1601115 12187861 C28H10orf88 chromosome 28 open reading frame, human C10orf88 gene DOID:2340 craniosynostosis ISO RGD:1312790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 12187861 C28H10orf88 chromosome 28 open reading frame, human C10orf88 gene DOID:630 genetic disease ISO RGD:1312790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187871 KLRG1 killer cell lectin like receptor G1 gene DOID:0080600 COVID-19 ISO RGD:737284 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12187871 KLRG1 killer cell lectin like receptor G1 gene DOID:10652 Alzheimer's disease ISO RGD:737284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALPHA-2-MACROGLOBULIN POLYMORPHISM PMID:1370808|PMID:15023809|PMID:1717945|PMID:24033266|PMID:9697696|PMID:9811940 12187871 KLRG1 killer cell lectin like receptor G1 gene DOID:11372 megacolon ISO RGD:737284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12187871 KLRG1 killer cell lectin like receptor G1 gene DOID:630 genetic disease ISO RGD:737284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187871 KLRG1 killer cell lectin like receptor G1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:737284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12187894 LOC611806 aldehyde dehydrogenase family 3 member B2-like gene DOID:0060041 autism spectrum disorder ISO RGD:1318187 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12187894 LOC611806 aldehyde dehydrogenase family 3 member B2-like gene DOID:1059 intellectual disability ISO RGD:1318187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12187894 LOC611806 aldehyde dehydrogenase family 3 member B2-like gene DOID:630 genetic disease ISO RGD:1318187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187894 LOC611806 aldehyde dehydrogenase family 3 member B2-like gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1318187 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12187894 LOC611806 aldehyde dehydrogenase family 3 member B2-like gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1318187 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12187905 NUDT15 nudix hydrolase 15 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1317982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12187905 NUDT15 nudix hydrolase 15 gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1317982 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:17301081|PMID:26475597|PMID:28492532 12187905 NUDT15 nudix hydrolase 15 gene DOID:1059 intellectual disability ISO RGD:1317982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12187905 NUDT15 nudix hydrolase 15 gene DOID:630 genetic disease ISO RGD:1317982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187905 NUDT15 nudix hydrolase 15 gene DOID:768 retinoblastoma ISO RGD:1317982 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:14722923|PMID:17096365|PMID:22180099|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 12187905 NUDT15 nudix hydrolase 15 gene DOID:9002041 Poor Metabolism of Thiopurines, 2 ISO RGD:1317982 D RGD:7240710 20190315 OMIM 12187905 NUDT15 nudix hydrolase 15 gene DOID:9002041 Poor Metabolism of Thiopurines, 2 ISO RGD:1317982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thiopurines, poor metabolism of, 2 PMID:22992668|PMID:25108385|PMID:25624441|PMID:26033531|PMID:26076924|PMID:26405151|PMID:26503813|PMID:26590936|PMID:26735160|PMID:26878724|PMID:27095468|PMID:27193222|PMID:27416873|PMID:27558924|PMID:27577869|PMID:27604507|PMID:28088792|PMID:28146264|PMID:28418010|PMID:28445187|PMID:28659275|PMID:29702976|PMID:29704867|PMID:29720126|PMID:29867468|PMID:29923122|PMID:29967377|PMID:30035323|PMID:30048756|PMID:30101994|PMID:30728528|PMID:31024313 12187912 SPDYA speedy/RINGO cell cycle regulator family member A gene DOID:630 genetic disease ISO RGD:1352707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187937 OTOR otoraplin gene DOID:630 genetic disease ISO RGD:1313174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12187984 BAHCC1 BAH domain and coiled-coil containing 1 gene DOID:630 genetic disease ISO RGD:1606249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188025 LOC106559787 60S ribosomal protein L17 gene DOID:1059 intellectual disability ISO RGD:7205201 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Intellectual disability 12188025 LOC106559787 60S ribosomal protein L17 gene DOID:630 genetic disease ISO RGD:7205201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188030 ANKRD1 ankyrin repeat domain 1 gene DOID:0050451 Brugada syndrome ISO RGD:1348352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 12188030 ANKRD1 ankyrin repeat domain 1 gene DOID:0050700 cardiomyopathy ISO RGD:1348352 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:17576681|PMID:19525294|PMID:19608030|PMID:19608031|PMID:22337857|PMID:22388920|PMID:22892539|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532|PMID:30659708|PMID:30847666|PMID:31983221|PMID:9536098 12188030 ANKRD1 ankyrin repeat domain 1 gene DOID:0060480 left ventricular noncompaction ISO RGD:1348352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:25741868|PMID:28492532 12188030 ANKRD1 ankyrin repeat domain 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1348352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:19525294|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12188030 ANKRD1 ankyrin repeat domain 1 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1348352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:16199547|PMID:19525294|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12188030 ANKRD1 ankyrin repeat domain 1 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1348352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:19608031|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:25089522|PMID:25741868|PMID:27143260|PMID:28492532|PMID:28672880|PMID:31737537 12188030 ANKRD1 ankyrin repeat domain 1 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1348352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:19608031|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:25089522|PMID:25741868|PMID:27143260|PMID:28492532|PMID:28672880|PMID:31737537 12188030 ANKRD1 ankyrin repeat domain 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1348352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19608031|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:25089522|PMID:25741868|PMID:27143260|PMID:28492532|PMID:28672880|PMID:31737537 12188030 ANKRD1 ankyrin repeat domain 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1348352 D RGD:9068941 20200609 RGD PMID:14516314|REF_RGD_ID:1578366 12188030 ANKRD1 ankyrin repeat domain 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17576681|PMID:18273862|PMID:19525294|PMID:19608030|PMID:19608031|PMID:21520333|PMID:22337857|PMID:22388920|PMID:22892539|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25089522|PMID:25741868|PMID:27143260|PMID:27532257|PMID:28166811|PMID:28492532|PMID:28672880|PMID:28794111|PMID:29447731|PMID:30847666|PMID:9536098 12188030 ANKRD1 ankyrin repeat domain 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348352 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17576681|PMID:18273862|PMID:19525294|PMID:19608030|PMID:19608031|PMID:21520333|PMID:22337857|PMID:22388920|PMID:22892539|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25089522|PMID:25741868|PMID:27143260|PMID:28166811|PMID:28492532|PMID:28672880|PMID:28794111|PMID:29447731|PMID:30847666|PMID:31737537|PMID:31983221|PMID:32880476|PMID:9536098 12188030 ANKRD1 ankyrin repeat domain 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:18273862|PMID:19525294|PMID:19589340|PMID:19608030|PMID:19608031|PMID:21520333|PMID:22337857|PMID:22388920|PMID:22892539|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25089522|PMID:25741868|PMID:27114410|PMID:27143260|PMID:27532257|PMID:28492532|PMID:28672880|PMID:28794111|PMID:29447731|PMID:30659708|PMID:30847666|PMID:31737537|PMID:31983221|PMID:32880476|PMID:9536098 12188030 ANKRD1 ankyrin repeat domain 1 gene DOID:2843 long QT syndrome ISO RGD:1348352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25741868|PMID:28492532 12188030 ANKRD1 ankyrin repeat domain 1 gene DOID:289 endometriosis ISO RGD:1348352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12188030 ANKRD1 ankyrin repeat domain 1 gene DOID:3191 nemaline myopathy ISO RGD:1348352 D RGD:9068941 20200609 RGD PMID:14516314|REF_RGD_ID:1578366 12188030 ANKRD1 ankyrin repeat domain 1 gene DOID:422 congenital structural myopathy ISO RGD:1348352 D RGD:9068941 20200609 RGD PMID:14516314|REF_RGD_ID:1578366 12188030 ANKRD1 ankyrin repeat domain 1 gene DOID:4297 scimitar syndrome ISO RGD:1348352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1 | ClinVar Annotator: match by term: Total anomalous pulmonary venous return PMID:19525294|PMID:19608031|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12188030 ANKRD1 ankyrin repeat domain 1 gene DOID:630 genetic disease ISO RGD:1348352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12188030 ANKRD1 ankyrin repeat domain 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:61989 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord, dorsal root ganglion, neuron PMID:17610582|REF_RGD_ID:5133279 12188030 ANKRD1 ankyrin repeat domain 1 gene DOID:9001600 Wounds and Injuries ISO RGD:62281 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:multiple PMID:15632022|REF_RGD_ID:5133280 12188030 ANKRD1 ankyrin repeat domain 1 gene DOID:9003936 Cardiomegaly ISO RGD:61989 D RGD:9068941 20200609 RGD PMID:10904011|REF_RGD_ID:1578370 12188030 ANKRD1 ankyrin repeat domain 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:61989 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium PMID:19299913|REF_RGD_ID:5133278 12188030 ANKRD1 ankyrin repeat domain 1 gene DOID:9651 systolic heart failure ISO RGD:1348352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systolic heart failure PMID:19525294|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12188043 ARCN1 archain 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1344658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12188043 ARCN1 archain 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1344658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12188043 ARCN1 archain 1 gene DOID:0080690 RASopathy ISO RGD:1344658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12188043 ARCN1 archain 1 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1344658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12188043 ARCN1 archain 1 gene DOID:0110651 long QT syndrome 10 ISO RGD:1344658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12188043 ARCN1 archain 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1344658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12188043 ARCN1 archain 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1344658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12188043 ARCN1 archain 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1344658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12188043 ARCN1 archain 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1344658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12188043 ARCN1 archain 1 gene DOID:10907 microcephaly ISO RGD:1344658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12188043 ARCN1 archain 1 gene DOID:630 genetic disease ISO RGD:1344658 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12188043 ARCN1 archain 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12188043 ARCN1 archain 1 gene DOID:9004866 Ataxia ISO RGD:1344658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20502676 12188043 ARCN1 archain 1 gene DOID:9005682 Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay ISO RGD:1344658 D RGD:7240710 20190315 OMIM 12188043 ARCN1 archain 1 gene DOID:9005682 Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay ISO RGD:1344658 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay PMID:25741868|PMID:27476655|PMID:28492532|PMID:31075182|PMID:33154040|PMID:35300924 12188043 ARCN1 archain 1 gene DOID:9007661 Dwarfism ISO RGD:1344658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12188057 ZC3H7A zinc finger CCCH-type containing 7A gene DOID:5419 schizophrenia ISO RGD:1322571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12188057 ZC3H7A zinc finger CCCH-type containing 7A gene DOID:630 genetic disease ISO RGD:1322571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188083 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0090039 torsion dystonia 6 ISO RGD:1606456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 12188083 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0110389 retinitis pigmentosa 73 ISO RGD:1606456 D RGD:7240710 20180130 OMIM 12188083 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0110389 retinitis pigmentosa 73 ISO RGD:1606456 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 73 PMID:16199547|PMID:16960811|PMID:17033958|PMID:17576681|PMID:19479962|PMID:19823584|PMID:20583299|PMID:24767253|PMID:25741868|PMID:25859010|PMID:27608171|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29140481|PMID:31228227|PMID:32770643|PMID:33576794|PMID:9536098 12188083 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:1606456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 PMID:28492532 12188083 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0111393 mucopolysaccharidosis type IIIC ISO RGD:1606456 D RGD:7240710 20191030 OMIM 12188083 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0111393 mucopolysaccharidosis type IIIC ISO RGD:1606456 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIC (Sanfilippo C) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C PMID:16199547|PMID:16960811|PMID:17033958|PMID:17397050|PMID:17576681|PMID:18024218|PMID:18518886|PMID:19479962|PMID:19763152|PMID:19823584|PMID:20307669|PMID:20583299|PMID:20825431|PMID:21384162|PMID:21910976|PMID:22406018|PMID:23301227|PMID:24767253|PMID:25326635|PMID:25491247|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25859010|PMID:26287674|PMID:26350204|PMID:27243974|PMID:27608171|PMID:27733599|PMID:27827379|PMID:28041643|PMID:28101780|PMID:28397838|PMID:28468868|PMID:28492532|PMID:28981474|PMID:29140481|PMID:29870682|PMID:30809705|PMID:31228227|PMID:31536183|PMID:32770643|PMID:33576794|PMID:33673364|PMID:34580245|PMID:35848209|PMID:9536098 12188083 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0111959 immunodeficiency 15B ISO RGD:1606456 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 12188083 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:10584 retinitis pigmentosa ISO RGD:1606456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17033958|PMID:19479962|PMID:19823584|PMID:20583299|PMID:25741868|PMID:25859010|PMID:27608171|PMID:28041643|PMID:28492532|PMID:28981474|PMID:31228227|PMID:32770643|PMID:33576794|PMID:34580245 12188083 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:1059 intellectual disability ISO RGD:1606456 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21910976|PMID:25741868|PMID:28492532|PMID:29870682 12188083 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:12798 mucopolysaccharidosis ISO RGD:1606456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis PMID:17033958|PMID:18024218|PMID:19479962|PMID:19823584|PMID:20583299|PMID:20825431|PMID:25741868|PMID:27827379|PMID:28492532|PMID:31536183 12188083 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1606456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sanfilippo syndrome PMID:16199547|PMID:16960811|PMID:17033958|PMID:17397050|PMID:18024218|PMID:18518886|PMID:19479962|PMID:19823584|PMID:20583299|PMID:20825431|PMID:21384162|PMID:23301227|PMID:24767253|PMID:25491247|PMID:25525159|PMID:25741868|PMID:26287674|PMID:26350204|PMID:27243974|PMID:28101780|PMID:28468868|PMID:28492532|PMID:29140481|PMID:31228227|PMID:31536183 12188083 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:1826 epilepsy ISO RGD:1606456 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12188083 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:630 genetic disease ISO RGD:1606456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:16960811|PMID:17033958|PMID:19479962|PMID:21910976|PMID:25741868|PMID:28492532|PMID:29140481|PMID:29870682|PMID:31228227 12188083 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:8501 fundus dystrophy ISO RGD:1606456 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:17033958|PMID:17397050|PMID:17576681|PMID:18024218|PMID:19479962|PMID:19823584|PMID:20583299|PMID:20825431|PMID:23301227|PMID:24767253|PMID:25491247|PMID:25525159|PMID:25741868|PMID:25859010|PMID:26350204|PMID:27243974|PMID:27608171|PMID:28041643|PMID:28101780|PMID:28492532|PMID:28981474|PMID:31228227|PMID:32770643|PMID:33576794|PMID:35848209|PMID:9536098 12188083 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1606456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 12188108 PDE10A phosphodiesterase 10A gene DOID:0081292 traumatic brain injury ISO RGD:68434 D RGD:9068941 20200609 RGD PMID:29215295|REF_RGD_ID:13513923 12188108 PDE10A phosphodiesterase 10A gene DOID:630 genetic disease ISO RGD:68649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12188108 PDE10A phosphodiesterase 10A gene DOID:9004996 Infantile-Onset Limb and Orofacial Dyskinesia ISO RGD:68649 D RGD:7240710 20190315 OMIM 12188108 PDE10A phosphodiesterase 10A gene DOID:9004996 Infantile-Onset Limb and Orofacial Dyskinesia ISO RGD:68649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskinesia, limb and orofacial, infantile-onset PMID:25741868|PMID:27058446|PMID:28492532|PMID:29159890|PMID:32581362 12188108 PDE10A phosphodiesterase 10A gene DOID:9005156 Striatal Degeneration, Autosomal Dominant 2 ISO RGD:68649 D RGD:7240710 20190315 OMIM 12188108 PDE10A phosphodiesterase 10A gene DOID:9005156 Striatal Degeneration, Autosomal Dominant 2 ISO RGD:68649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Striatal degeneration, autosomal dominant 2 PMID:25741868|PMID:27058447|PMID:28492532|PMID:29159890|PMID:29165877 12188108 PDE10A phosphodiesterase 10A gene DOID:9005603 Muscle Hypotonia ISO RGD:68649 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:27058446|PMID:32581362 12188108 PDE10A phosphodiesterase 10A gene DOID:9008086 Developmental Disabilities ISO RGD:68649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:27058446|PMID:32581362 12188157 MOGAT2 monoacylglycerol O-acyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1316028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12188157 MOGAT2 monoacylglycerol O-acyltransferase 2 gene DOID:630 genetic disease ISO RGD:1316028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188157 MOGAT2 monoacylglycerol O-acyltransferase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1316028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12188166 BIVM basic, immunoglobulin-like variable motif containing gene DOID:0110878 holoprosencephaly 5 ISO RGD:1323580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:28492532 12188166 BIVM basic, immunoglobulin-like variable motif containing gene DOID:14701 propionic acidemia ISO RGD:1323580 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 12188166 BIVM basic, immunoglobulin-like variable motif containing gene DOID:630 genetic disease ISO RGD:1323580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188166 BIVM basic, immunoglobulin-like variable motif containing gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1323580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12188166 BIVM basic, immunoglobulin-like variable motif containing gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:1323580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 12188189 MRPL45 mitochondrial ribosomal protein L45 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1312625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:24088041|PMID:26633545 12188189 MRPL45 mitochondrial ribosomal protein L45 gene DOID:1936 atherosclerosis ISO RGD:1312625 D RGD:9068941 20230128 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) PMID:33381146|REF_RGD_ID:155882464 12188189 MRPL45 mitochondrial ribosomal protein L45 gene DOID:630 genetic disease ISO RGD:1312625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188201 POM121C POM121 transmembrane nucleoporin C gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2290521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12188201 POM121C POM121 transmembrane nucleoporin C gene DOID:630 genetic disease ISO RGD:2290521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188201 POM121C POM121 transmembrane nucleoporin C gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:2290521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12188220 LGALS1 galectin 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1347735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12188220 LGALS1 galectin 1 gene DOID:0080600 COVID-19 ISO RGD:1347735 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12188220 LGALS1 galectin 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1347735 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12188220 LGALS1 galectin 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1347735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12188220 LGALS1 galectin 1 gene DOID:10952 nephritis ISO RGD:1347735 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11044214 12188220 LGALS1 galectin 1 gene DOID:10966 lipoid nephrosis ISO RGD:69355 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus, podocytes (rat) PMID:19079321|REF_RGD_ID:2316526 12188220 LGALS1 galectin 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1347735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12188220 LGALS1 galectin 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:69355 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:18225978|REF_RGD_ID:2316551 12188220 LGALS1 galectin 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1347735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 12188220 LGALS1 galectin 1 gene DOID:5082 liver cirrhosis ISO RGD:1347735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 12188220 LGALS1 galectin 1 gene DOID:630 genetic disease ISO RGD:1347735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188220 LGALS1 galectin 1 gene DOID:707 B-cell lymphoma ISO RGD:69355 D RGD:9068941 20200609 RGD protein:increased expression:primary tumor (rat) PMID:16733672|REF_RGD_ID:2316550 12188220 LGALS1 galectin 1 gene DOID:9000058 Keloid ISO RGD:1347735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12188220 LGALS1 galectin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12188227 OR13C11B olfactory receptor family 13 subfamily C member 11B gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1346182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12188227 OR13C11B olfactory receptor family 13 subfamily C member 11B gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1346182 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12188227 OR13C11B olfactory receptor family 13 subfamily C member 11B gene DOID:0080942 anauxetic dysplasia ISO RGD:1346182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12188227 OR13C11B olfactory receptor family 13 subfamily C member 11B gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1346182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12188227 OR13C11B olfactory receptor family 13 subfamily C member 11B gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1346182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12188227 OR13C11B olfactory receptor family 13 subfamily C member 11B gene DOID:630 genetic disease ISO RGD:1346182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188227 OR13C11B olfactory receptor family 13 subfamily C member 11B gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1346182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12188227 OR13C11B olfactory receptor family 13 subfamily C member 11B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1346182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12188227 OR13C11B olfactory receptor family 13 subfamily C member 11B gene DOID:9870 galactosemia ISO RGD:1346182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12188239 HRG histidine rich glycoprotein gene DOID:0060575 3MC syndrome 1 ISO RGD:736906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 12188239 HRG histidine rich glycoprotein gene DOID:0060903 thrombosis ISO RGD:736906 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868|PMID:34355501 12188239 HRG histidine rich glycoprotein gene DOID:0111903 thrombophilia due to HRG deficiency ISO RGD:736906 D RGD:7240710 20180130 OMIM 12188239 HRG histidine rich glycoprotein gene DOID:0111903 thrombophilia due to HRG deficiency ISO RGD:736906 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency PMID:11057869|PMID:25741868|PMID:29108964|PMID:34355501|PMID:9414276 12188239 HRG histidine rich glycoprotein gene DOID:2213 hemorrhagic disease ISO RGD:736906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 12188239 HRG histidine rich glycoprotein gene DOID:4074 pancreatic adenocarcinoma disease_progression ISO RGD:736906 D RGD:9068941 20200609 RGD PMID:21713765|REF_RGD_ID:11041886 12188239 HRG histidine rich glycoprotein gene DOID:630 genetic disease ISO RGD:736906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188239 HRG histidine rich glycoprotein gene DOID:9008939 Breast Neoplasms ISO RGD:736906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19552798 12188259 PCDH20 protocadherin 20 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1314837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12188259 PCDH20 protocadherin 20 gene DOID:630 genetic disease ISO RGD:1314837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188282 CHN2 chimerin 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1350256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12188282 CHN2 chimerin 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12188282 CHN2 chimerin 2 gene DOID:5419 schizophrenia ISO RGD:1350256 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12188282 CHN2 chimerin 2 gene DOID:630 genetic disease ISO RGD:1350256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188282 CHN2 chimerin 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1350256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12188308 F11 coagulation factor XI gene DOID:0060903 thrombosis ISO RGD:1319673 D RGD:9068941 20200609 RGD DNA:SNPs:intron: rs2289252,rs2036914(human) PMID:22633531|REF_RGD_ID:11041774 12188308 F11 coagulation factor XI gene DOID:0060903 thrombosis susceptibility ISO RGD:1319673 D RGD:9068941 20200609 RGD DNA:SNPs:intron: rs2289252,rs2036914(human) PMID:19583818|REF_RGD_ID:11041778 12188308 F11 coagulation factor XI gene DOID:10763 hypertension ISO RGD:1319673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6383834 12188308 F11 coagulation factor XI gene DOID:12849 autistic disorder ISO RGD:1319673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12188308 F11 coagulation factor XI gene DOID:2213 hemorrhagic disease ISO RGD:1319673 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10593931|PMID:11122101|PMID:15026311|PMID:15140127|PMID:15531455|PMID:16079124|PMID:16519703|PMID:16835901|PMID:18515884|PMID:20015217|PMID:2052060|PMID:21668437|PMID:23929304|PMID:24033266|PMID:24982842|PMID:25741868|PMID:2813350|PMID:28492532|PMID:31064749|PMID:34355501|PMID:9326232 12188308 F11 coagulation factor XI gene DOID:2222 factor X deficiency ISO RGD:1319673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital factor X deficiency PMID:25741868|PMID:31064749 12188308 F11 coagulation factor XI gene DOID:2229 factor XI deficiency IAGP D RGD:12801476 20230503 OMIA Factor XI deficiency PMID:7730123|PMID:5166932|PMID:3282382|PMID:4604529|PMID:19630774 12188308 F11 coagulation factor XI gene DOID:2229 factor XI deficiency ISO RGD:1319673 D RGD:7240710 20180130 OMIM 12188308 F11 coagulation factor XI gene DOID:2229 factor XI deficiency ISO RGD:1319673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar Annotator: match by term: Plasma factor XI deficiency PMID:10444286|PMID:10593931|PMID:10606881|PMID:10706758|PMID:11122101|PMID:11127865|PMID:11418471|PMID:11895778|PMID:12586617|PMID:12716376|PMID:12879434|PMID:14508802|PMID:14717969|PMID:15026311|PMID:15090552|PMID:15140127|PMID:15140147|PMID:15180874|PMID:15456490|PMID:1547342|PMID:15531455|PMID:15634276|PMID:15728123|PMID:15749683|PMID:15842381|PMID:15870541|PMID:15946525|PMID:15953011|PMID:15968392|PMID:16079124|PMID:16086308|PMID:16199547|PMID:16519703|PMID:16607084|PMID:16787881|PMID:16835901|PMID:17229051|PMID:17549289|PMID:17576681|PMID:18005151|PMID:18024374|PMID:18327400|PMID:18388506|PMID:18446632|PMID:18515884|PMID:18758779|PMID:18832909|PMID:18839438|PMID:19367158|PMID:19652879|PMID:20015217|PMID:20398070|PMID:2052060|PMID:20523169|PMID:21192253|PMID:21457405|PMID:21649796|PMID:21668437|PMID:21718436|PMID:21824284|PMID:22016685|PMID:22159456|PMID:22197449|PMID:23305485|PMID:23315997|PMID:23332144|PMID:23929304|PMID:24033266|PMID:24112640|PMID:24982842|PMID:25074526|PMID:25158988|PMID:25681615|PMID:25741868|PMID:25741869|PMID:26558335|PMID:26879396|PMID:27067486|PMID:27710856|PMID:27723456|PMID:2813350|PMID:28445521|PMID:28492532|PMID:28615222|PMID:28960694|PMID:29138690|PMID:29178608|PMID:29367083|PMID:31064749|PMID:31644447|PMID:32220196|PMID:32333264|PMID:32581362|PMID:32596782|PMID:34355501|PMID:7669672|PMID:7888672|PMID:8832909|PMID:9326232|PMID:9401068|PMID:9536098|PMID:9787168 12188308 F11 coagulation factor XI gene DOID:3490 Noonan syndrome ISO RGD:1319673 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:3354599|REF_RGD_ID:11041743 12188308 F11 coagulation factor XI gene DOID:3525 middle cerebral artery infarction ISO RGD:1319674 D RGD:9068941 20200609 RGD PMID:16533887|REF_RGD_ID:11041786 12188308 F11 coagulation factor XI gene DOID:630 genetic disease ISO RGD:1319673 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10593931|PMID:15026311|PMID:15140127|PMID:16835901|PMID:2052060|PMID:23929304|PMID:24033266|PMID:25741868|PMID:2813350|PMID:28492532|PMID:31064749|PMID:34355501|PMID:9326232 12188308 F11 coagulation factor XI gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1319673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral hemorrhage 12188308 F11 coagulation factor XI gene DOID:9003281 Spontaneous Abortions ISO RGD:1319673 D RGD:9068941 20200609 RGD protein:increased activity:blood: PMID:25517908|REF_RGD_ID:11041767 12188308 F11 coagulation factor XI gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1319673 D RGD:9068941 20200609 RGD protein:increased activity:blood: PMID:10706899|REF_RGD_ID:11041768 12188308 F11 coagulation factor XI gene DOID:9004484 Sepsis ISO RGD:1309364 D RGD:9068941 20200609 RGD PMID:12000738|REF_RGD_ID:1598921 12188308 F11 coagulation factor XI gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1319673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 12188334 PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:0060041 autism spectrum disorder ISO RGD:732942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12188334 PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:0080236 autosomal dominant intellectual developmental disorder 45 ISO RGD:732942 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 45 PMID:25741868 12188334 PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:732942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12188334 PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:1342 congenital hypoplastic anemia ISO RGD:732942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12188334 PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:2340 craniosynostosis ISO RGD:732942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:28492532 12188334 PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:5419 schizophrenia ISO RGD:732942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12188334 PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:630 genetic disease ISO RGD:732942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188334 PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:732942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12188334 PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:9006994 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN ISO RGD:732942 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin PMID:25741868 12188334 PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:9269 maple syrup urine disease ISO RGD:732942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12188347 SLC25A36 solute carrier family 25 member 36 gene DOID:0081328 familial hyperinsulinemic hypoglycemia 8 ISO RGD:1605658 D RGD:7240710 20230215 OMIM 12188347 SLC25A36 solute carrier family 25 member 36 gene DOID:0081328 familial hyperinsulinemic hypoglycemia 8 ISO RGD:1605658 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 8 PMID:34576089|PMID:34971397 12188347 SLC25A36 solute carrier family 25 member 36 gene DOID:630 genetic disease ISO RGD:1605658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188358 PCNA proliferating cell nuclear antigen gene DOID:0080178 mucositis ISO RGD:3269 D RGD:9068941 20200609 RGD protein:decreased expression:intestine: PMID:21080177|REF_RGD_ID:10448991 12188358 PCNA proliferating cell nuclear antigen gene DOID:0090103 Huntington's disease-like 1 ISO RGD:732094 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12188358 PCNA proliferating cell nuclear antigen gene DOID:10534 stomach cancer ameliorates ISO RGD:732094 D RGD:9068941 20211029 RGD human cells in mouse model PMID:26432329|REF_RGD_ID:150520156 12188358 PCNA proliferating cell nuclear antigen gene DOID:11446 sciatic neuropathy ISO RGD:3269 D RGD:9068941 20200609 RGD PMID:23014974|REF_RGD_ID:10448976 12188358 PCNA proliferating cell nuclear antigen gene DOID:11476 osteoporosis ISO RGD:3269 D RGD:9068941 20200609 RGD protein:increased expression:osteoblast: PMID:22550338|REF_RGD_ID:10045656 12188358 PCNA proliferating cell nuclear antigen gene DOID:12217 Lewy body dementia ISO RGD:732094 D RGD:9068941 20200609 RGD protein:increased expression:Hippocampal sub ventricular zone,Subgranular layer: PMID:20665591|REF_RGD_ID:10448971 12188358 PCNA proliferating cell nuclear antigen gene DOID:127 leiomyoma ISO RGD:732094 D RGD:9068941 20200609 RGD protein:increased expression:myometrium PMID:18000229|REF_RGD_ID:2292498 12188358 PCNA proliferating cell nuclear antigen gene DOID:127 leiomyoma treatment ISO RGD:3269 D RGD:9068941 20200609 RGD PMID:21896544|REF_RGD_ID:10413890 12188358 PCNA proliferating cell nuclear antigen gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17121042 12188358 PCNA proliferating cell nuclear antigen gene DOID:13603 obstructive jaundice treatment ISO RGD:3269 D RGD:9068941 20200609 RGD PMID:12917765|REF_RGD_ID:10448973 12188358 PCNA proliferating cell nuclear antigen gene DOID:1459 hypothyroidism ISO RGD:3269 D RGD:9068941 20200609 RGD PMID:21273639|REF_RGD_ID:10448988 12188358 PCNA proliferating cell nuclear antigen gene DOID:2154 nephroblastoma disease_progression ISO RGD:732094 D RGD:9068941 20200609 RGD PMID:11869017|REF_RGD_ID:2315007 12188358 PCNA proliferating cell nuclear antigen gene DOID:224 transient cerebral ischemia ISO RGD:3269 D RGD:9068941 20200609 RGD PMID:9757027|REF_RGD_ID:10448974 12188358 PCNA proliferating cell nuclear antigen gene DOID:2316 brain ischemia ISO RGD:3269 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:12099899|REF_RGD_ID:729592 12188358 PCNA proliferating cell nuclear antigen gene DOID:299 adenocarcinoma ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028472 12188358 PCNA proliferating cell nuclear antigen gene DOID:3008 invasive ductal carcinoma severity ISO RGD:732094 D RGD:9068941 20200609 RGD PMID:8102204|REF_RGD_ID:2315014 12188358 PCNA proliferating cell nuclear antigen gene DOID:326 ischemia ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19458120 12188358 PCNA proliferating cell nuclear antigen gene DOID:3571 liver cancer disease_progression ISO RGD:3269 D RGD:9068941 20220224 RGD protein:increased expression:liver (rat) PMID:11797828|REF_RGD_ID:151356973 12188358 PCNA proliferating cell nuclear antigen gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:732094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12188358 PCNA proliferating cell nuclear antigen gene DOID:4440 seminoma disease_progression ISO RGD:732094 D RGD:9068941 20200609 RGD PMID:7474604|REF_RGD_ID:2315012 12188358 PCNA proliferating cell nuclear antigen gene DOID:4450 renal cell carcinoma severity ISO RGD:732094 D RGD:9068941 20200609 RGD PMID:11369057|REF_RGD_ID:2315008 12188358 PCNA proliferating cell nuclear antigen gene DOID:630 genetic disease ISO RGD:732094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188358 PCNA proliferating cell nuclear antigen gene DOID:684 hepatocellular carcinoma treatment ISO RGD:3269 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:23219601|REF_RGD_ID:10448993 12188358 PCNA proliferating cell nuclear antigen gene DOID:684 hepatocellular carcinoma treatment ISO RGD:3269 D RGD:9068941 20220520 RGD PMID:25999787|REF_RGD_ID:152177911 12188358 PCNA proliferating cell nuclear antigen gene DOID:687 hepatoblastoma ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11560253 12188358 PCNA proliferating cell nuclear antigen gene DOID:8893 psoriasis ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10384915 12188358 PCNA proliferating cell nuclear antigen gene DOID:9000457 Germ Cell and Embryonal Neoplasms disease_progression ISO RGD:732094 D RGD:9068941 20200609 RGD PMID:10533299|REF_RGD_ID:2315009 12188358 PCNA proliferating cell nuclear antigen gene DOID:9000855 Experimental Radiation Injuries ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21931560 12188358 PCNA proliferating cell nuclear antigen gene DOID:9000965 Neoplasm Metastasis ISO RGD:732094 D RGD:9068941 20200609 RGD associated with Seminoma PMID:9143022|REF_RGD_ID:2315011 12188358 PCNA proliferating cell nuclear antigen gene DOID:9002170 Experimental Neoplasms ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 12188358 PCNA proliferating cell nuclear antigen gene DOID:9002196 Ataxia-Telangiectasia-Like Disorder 2 ISO RGD:732094 D RGD:7240710 20180130 OMIM 12188358 PCNA proliferating cell nuclear antigen gene DOID:9002196 Ataxia-Telangiectasia-Like Disorder 2 ISO RGD:732094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 PMID:24911150|PMID:25741868 12188358 PCNA proliferating cell nuclear antigen gene DOID:9002928 Colonic Neoplasms ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028472|PMID:19723570 12188358 PCNA proliferating cell nuclear antigen gene DOID:9004207 Testicular Neoplasms disease_progression ISO RGD:732094 D RGD:9068941 20200609 RGD PMID:7474604|REF_RGD_ID:2315012 12188358 PCNA proliferating cell nuclear antigen gene DOID:9004240 Phyllodes Tumor disease_progression ISO RGD:732094 D RGD:9068941 20200609 RGD PMID:10374321|REF_RGD_ID:2315010 12188358 PCNA proliferating cell nuclear antigen gene DOID:9004422 Chagas Cardiomyopathy ISO RGD:3269 D RGD:9068941 20200609 RGD protein:increased expression:myocardium: PMID:12435130|REF_RGD_ID:10448990 12188358 PCNA proliferating cell nuclear antigen gene DOID:9004583 Ataxia Telangiectasia Like Disorder ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12188358 PCNA proliferating cell nuclear antigen gene DOID:9005172 Lung Neoplasms ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11884234 12188358 PCNA proliferating cell nuclear antigen gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3269 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:mammary gland: PMID:2567593|REF_RGD_ID:10448972 12188358 PCNA proliferating cell nuclear antigen gene DOID:9005396 Intimal Hyperplasia treatment ISO RGD:3269 D RGD:9068941 20200609 RGD PMID:8104336|REF_RGD_ID:10448975 12188358 PCNA proliferating cell nuclear antigen gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:3269 D RGD:9068941 20230216 RGD protein:increased expression:lung (rat) PMID:26485208|REF_RGD_ID:12910856 12188358 PCNA proliferating cell nuclear antigen gene DOID:9006182 Carotid Artery Injuries ISO RGD:732095 D RGD:9068941 20230427 RGD protein:increased expression:vascular smooth muscle cell carotid artery (mouse) PMID:25751394|REF_RGD_ID:329328927 12188358 PCNA proliferating cell nuclear antigen gene DOID:9007502 Brain Neoplasms ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 12188358 PCNA proliferating cell nuclear antigen gene DOID:9008691 Liver Injury ISO RGD:3269 D RGD:9068941 20200609 RGD PMID:7906221|REF_RGD_ID:10448980 12188358 PCNA proliferating cell nuclear antigen gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:732094 D RGD:9068941 20200609 RGD PMID:8098267|REF_RGD_ID:2315013 12188368 PRPF6 pre-mRNA processing factor 6 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316097 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12188368 PRPF6 pre-mRNA processing factor 6 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1316097 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12188368 PRPF6 pre-mRNA processing factor 6 gene DOID:0110411 retinitis pigmentosa 60 ISO RGD:1316097 D RGD:7240710 20180130 OMIM 12188368 PRPF6 pre-mRNA processing factor 6 gene DOID:0110411 retinitis pigmentosa 60 ISO RGD:1316097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 60 PMID:21549338|PMID:25741868|PMID:28492532 12188368 PRPF6 pre-mRNA processing factor 6 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316097 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12188368 PRPF6 pre-mRNA processing factor 6 gene DOID:10584 retinitis pigmentosa ISO RGD:1316097 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 12188368 PRPF6 pre-mRNA processing factor 6 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1316097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12188368 PRPF6 pre-mRNA processing factor 6 gene DOID:630 genetic disease ISO RGD:1316097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12188368 PRPF6 pre-mRNA processing factor 6 gene DOID:8501 fundus dystrophy ISO RGD:1316097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:25356976|PMID:28492532|PMID:9536098 12188393 GLB1L galactosidase beta 1 like gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1319832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12188393 GLB1L galactosidase beta 1 like gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1319832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12188393 GLB1L galactosidase beta 1 like gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1319832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12188393 GLB1L galactosidase beta 1 like gene DOID:1148 polydactyly ISO RGD:1319832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 12188393 GLB1L galactosidase beta 1 like gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1319832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12188393 GLB1L galactosidase beta 1 like gene DOID:630 genetic disease ISO RGD:1319832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188393 GLB1L galactosidase beta 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12188419 TBCA tubulin folding cofactor A gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1323048 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 12188419 TBCA tubulin folding cofactor A gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1323048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9527842 12188419 TBCA tubulin folding cofactor A gene DOID:630 genetic disease ISO RGD:1323048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188419 TBCA tubulin folding cofactor A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12188427 NLGN2 neuroligin 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:732705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12188427 NLGN2 neuroligin 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:732705 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12188427 NLGN2 neuroligin 2 gene DOID:1059 intellectual disability ISO RGD:732705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12188427 NLGN2 neuroligin 2 gene DOID:11446 sciatic neuropathy ISO RGD:621118 D RGD:9068941 20200609 RGD mRNA:decreased expression:sciatic nerve PMID:17492651|REF_RGD_ID:9831149 12188427 NLGN2 neuroligin 2 gene DOID:12177 common variable immunodeficiency ISO RGD:732705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12188427 NLGN2 neuroligin 2 gene DOID:1824 status epilepticus ISO RGD:621118 D RGD:9068941 20200609 RGD PMID:22539981|REF_RGD_ID:9831126 12188427 NLGN2 neuroligin 2 gene DOID:2729 dyskeratosis congenita ISO RGD:732705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12188427 NLGN2 neuroligin 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:732705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12188427 NLGN2 neuroligin 2 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:732705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12188427 NLGN2 neuroligin 2 gene DOID:5419 schizophrenia ISO RGD:732706 D RGD:9068941 20220825 MouseDO OMIM:181500 12188427 NLGN2 neuroligin 2 gene DOID:630 genetic disease ISO RGD:732705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12188427 NLGN2 neuroligin 2 gene DOID:9002211 Hyperalgesia ISO RGD:621118 D RGD:9068941 20200609 RGD PMID:23891900|REF_RGD_ID:9831150 12188438 TMEM11 transmembrane protein 11 gene DOID:630 genetic disease ISO RGD:1320357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188457 GPER1 G protein-coupled estrogen receptor 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:735664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30165855 12188457 GPER1 G protein-coupled estrogen receptor 1 gene DOID:0080600 COVID-19 ISO RGD:735664 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12188457 GPER1 G protein-coupled estrogen receptor 1 gene DOID:127 leiomyoma ISO RGD:735664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31468104 12188457 GPER1 G protein-coupled estrogen receptor 1 gene DOID:14320 generalized anxiety disorder severity ISO RGD:735664 D RGD:9068941 20201015 RGD protein:increased expression:serum (human) PMID:27512921|REF_RGD_ID:39938860 12188457 GPER1 G protein-coupled estrogen receptor 1 gene DOID:1909 melanoma severity ISO RGD:735664 D RGD:9068941 20201022 RGD protein:increased expression:skin (human) PMID:28467693|REF_RGD_ID:39939016 12188457 GPER1 G protein-coupled estrogen receptor 1 gene DOID:289 endometriosis ISO RGD:731530 D RGD:9068941 20201015 RGD protein:decreased expression:endometrium (mouse) PMID:32152908|REF_RGD_ID:39938861 12188457 GPER1 G protein-coupled estrogen receptor 1 gene DOID:289 endometriosis ISO RGD:735664 D RGD:9068941 20201029 RGD protein:increased expression:endometrium, cytoplasm (human) PMID:22520060|REF_RGD_ID:39939083 12188457 GPER1 G protein-coupled estrogen receptor 1 gene DOID:630 genetic disease ISO RGD:735664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188457 GPER1 G protein-coupled estrogen receptor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:619845 D RGD:9068941 20200609 RGD PMID:22975889|REF_RGD_ID:8552988 12188457 GPER1 G protein-coupled estrogen receptor 1 gene DOID:9005369 Hepatomegaly ISO RGD:735664 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:30641053 12188457 GPER1 G protein-coupled estrogen receptor 1 gene DOID:9007188 Liver Neoplasms ISO RGD:735664 D RGD:9068941 20210312 CTD CTD Direct Evidence: therapeutic PMID:30641053 12188457 GPER1 G protein-coupled estrogen receptor 1 gene DOID:9007204 Dysbiosis ameliorates ISO RGD:619845 D RGD:9068941 20220210 RGD PMID:30354811|REF_RGD_ID:39939000 12188457 GPER1 G protein-coupled estrogen receptor 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:735664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21984484 12188457 GPER1 G protein-coupled estrogen receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24440569 12188465 ALG12 ALG12 alpha-1,6-mannosyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:1312492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12188465 ALG12 ALG12 alpha-1,6-mannosyltransferase gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1312492 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12188465 ALG12 ALG12 alpha-1,6-mannosyltransferase gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1312492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12188465 ALG12 ALG12 alpha-1,6-mannosyltransferase gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1312492 D RGD:7240710 20180130 OMIM 12188465 ALG12 ALG12 alpha-1,6-mannosyltransferase gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1312492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:11983712|PMID:12093361|PMID:12217961|PMID:12736397|PMID:15639192|PMID:16199547|PMID:16435218|PMID:17506107|PMID:17576681|PMID:25019053|PMID:25326635|PMID:25741868|PMID:28492532|PMID:30266093|PMID:31481313|PMID:33461977|PMID:9536098 12188465 ALG12 ALG12 alpha-1,6-mannosyltransferase gene DOID:10581 metachromatic leukodystrophy ISO RGD:1312492 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12188465 ALG12 ALG12 alpha-1,6-mannosyltransferase gene DOID:1059 intellectual disability ISO RGD:1312492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12188465 ALG12 ALG12 alpha-1,6-mannosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1312492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 12188465 ALG12 ALG12 alpha-1,6-mannosyltransferase gene DOID:630 genetic disease ISO RGD:1312492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15639192|PMID:25019053|PMID:25741868|PMID:28492532|PMID:31481313 12188465 ALG12 ALG12 alpha-1,6-mannosyltransferase gene DOID:9007661 Dwarfism ISO RGD:1312492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12188480 CHDH choline dehydrogenase gene DOID:6000 congestive heart failure ISO RGD:1347167 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12188480 CHDH choline dehydrogenase gene DOID:630 genetic disease ISO RGD:1347167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188501 NOX4 NADPH oxidase 4 gene DOID:0080547 non-alcoholic steatohepatitis susceptibility ISO RGD:620600 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:20606728|REF_RGD_ID:21076282 12188501 NOX4 NADPH oxidase 4 gene DOID:1059 intellectual disability ISO RGD:731542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12188501 NOX4 NADPH oxidase 4 gene DOID:1074 kidney failure ISO RGD:731542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23325087 12188501 NOX4 NADPH oxidase 4 gene DOID:10763 hypertension ISO RGD:620600 D RGD:9068941 20200609 RGD PMID:26644237|REF_RGD_ID:11085830 12188501 NOX4 NADPH oxidase 4 gene DOID:10763 hypertension ISO RGD:620600 D RGD:9068941 20200609 RGD protein:increased expression:aorta, vascular associated smooth muscle cell PMID:18418428|REF_RGD_ID:2324669 12188501 NOX4 NADPH oxidase 4 gene DOID:10763 hypertension ISO RGD:731542 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:27659729|PMID:27847271|PMID:32147540 12188501 NOX4 NADPH oxidase 4 gene DOID:2316 brain ischemia ISO RGD:731543 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex (human) PMID:15802177|REF_RGD_ID:1580980 12188501 NOX4 NADPH oxidase 4 gene DOID:6000 congestive heart failure ISO RGD:731542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 12188501 NOX4 NADPH oxidase 4 gene DOID:630 genetic disease ISO RGD:731542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188501 NOX4 NADPH oxidase 4 gene DOID:6432 pulmonary hypertension ISO RGD:731543 D RGD:9068941 20200609 RGD associated with Anoxia;mRNA, protein:increased expression:lung PMID:18952568|REF_RGD_ID:4762683 12188501 NOX4 NADPH oxidase 4 gene DOID:783 end stage renal disease ISO RGD:731542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 12188501 NOX4 NADPH oxidase 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12188501 NOX4 NADPH oxidase 4 gene DOID:9001665 Aneurysm ISO RGD:620600 D RGD:9068941 20200609 RGD PMID:19620512|REF_RGD_ID:2324659 12188501 NOX4 NADPH oxidase 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:620600 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16135519|REF_RGD_ID:2324673 12188501 NOX4 NADPH oxidase 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:620600 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:kidney cortex PMID:17511984|REF_RGD_ID:2324670 12188501 NOX4 NADPH oxidase 4 gene DOID:9002928 Colonic Neoplasms ISO RGD:731542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20715105 12188501 NOX4 NADPH oxidase 4 gene DOID:9004009 Reperfusion Injury ISO RGD:620600 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:18438942|REF_RGD_ID:2324666 12188501 NOX4 NADPH oxidase 4 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:620600 D RGD:9068941 20200609 RGD associated with hypertension PMID:23850346|REF_RGD_ID:13703040 12188501 NOX4 NADPH oxidase 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620600 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:19686728|REF_RGD_ID:2324658 12188501 NOX4 NADPH oxidase 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12188523 NKX2-2 NK2 homeobox 2 gene DOID:3213 demyelinating disease ISO RGD:1308443 D RGD:9068941 20200609 RGD protein:increased expression:oligodendrocyte PMID:15048854|REF_RGD_ID:2306244 12188523 NKX2-2 NK2 homeobox 2 gene DOID:630 genetic disease ISO RGD:1318213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188532 ADRA2A adrenoceptor alpha 2A gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:737381 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 12188532 ADRA2A adrenoceptor alpha 2A gene DOID:10763 hypertension ISO RGD:2056 D RGD:9068941 20200609 RGD mRNA:decreased expression:adrenal gland medulla PMID:20691504|REF_RGD_ID:6480490 12188532 ADRA2A adrenoceptor alpha 2A gene DOID:10763 hypertension ISO RGD:737381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10694191 12188532 ADRA2A adrenoceptor alpha 2A gene DOID:10763 hypertension no_association ISO RGD:737381 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16636200|REF_RGD_ID:1625183 12188532 ADRA2A adrenoceptor alpha 2A gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:737381 D RGD:9068941 20200609 RGD PMID:16178932|REF_RGD_ID:1559309 12188532 ADRA2A adrenoceptor alpha 2A gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:737381 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1291C>G (human) PMID:19150055|REF_RGD_ID:6480484 12188532 ADRA2A adrenoceptor alpha 2A gene DOID:114 heart disease ISO RGD:737381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 12188532 ADRA2A adrenoceptor alpha 2A gene DOID:1596 depressive disorder ISO RGD:2056 D RGD:9068941 20200609 RGD PMID:20047711|REF_RGD_ID:6480482 12188532 ADRA2A adrenoceptor alpha 2A gene DOID:1826 epilepsy ISO RGD:737381 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17341653 12188532 ADRA2A adrenoceptor alpha 2A gene DOID:2030 anxiety disorder ISO RGD:2056 D RGD:9068941 20200609 RGD PMID:21669254|REF_RGD_ID:6480479 12188532 ADRA2A adrenoceptor alpha 2A gene DOID:594 panic disorder ISO RGD:737381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14656453 12188532 ADRA2A adrenoceptor alpha 2A gene DOID:630 genetic disease ISO RGD:737381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188532 ADRA2A adrenoceptor alpha 2A gene DOID:9000784 Fibrosis ISO RGD:737381 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20083574 12188532 ADRA2A adrenoceptor alpha 2A gene DOID:9002211 Hyperalgesia ISO RGD:2056 D RGD:9068941 20200609 RGD PMID:17959985|REF_RGD_ID:6480488 12188532 ADRA2A adrenoceptor alpha 2A gene DOID:9003936 Cardiomegaly ISO RGD:737381 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20083574 12188532 ADRA2A adrenoceptor alpha 2A gene DOID:9004484 Sepsis disease_progression ISO RGD:2056 D RGD:9068941 20200609 RGD PMID:19894027|REF_RGD_ID:6480483 12188532 ADRA2A adrenoceptor alpha 2A gene DOID:9004610 Acute Lung Injury ISO RGD:2056 D RGD:9068941 20200609 RGD PMID:21542970|REF_RGD_ID:6480481 12188532 ADRA2A adrenoceptor alpha 2A gene DOID:9005930 Endotoxemia onset ISO RGD:2056 D RGD:9068941 20200609 RGD mRNA:increased expression:spleen PMID:20302880|REF_RGD_ID:6480487 12188532 ADRA2A adrenoceptor alpha 2A gene DOID:9005968 Neuralgia ISO RGD:2056 D RGD:9068941 20200609 RGD PMID:12946573|REF_RGD_ID:6893571 12188532 ADRA2A adrenoceptor alpha 2A gene DOID:9006024 Hypotension ISO RGD:737381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16595736|PMID:18849358 12188532 ADRA2A adrenoceptor alpha 2A gene DOID:9007428 Muscle Spasticity ISO RGD:2056 D RGD:9068941 20200609 RGD PMID:21871540|REF_RGD_ID:6480106 12188532 ADRA2A adrenoceptor alpha 2A gene DOID:9008820 Visceral Pain ISO RGD:2056 D RGD:9068941 20200609 RGD PMID:20047711|REF_RGD_ID:6480482 12188532 ADRA2A adrenoceptor alpha 2A gene DOID:9352 type 2 diabetes mellitus ISO RGD:2056 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreatic islet PMID:19965390|REF_RGD_ID:2316628 12188532 ADRA2A adrenoceptor alpha 2A gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737381 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:rs553668 (human) PMID:19965390|REF_RGD_ID:2316628 12188543 OR4F25 olfactory receptor family 4 subfamily F member 25 gene DOID:630 genetic disease ISO RGD:1351117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188546 NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1314685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868|PMID:28492532 12188546 NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:0080600 COVID-19 ISO RGD:1314685 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12188546 NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1314685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 12188546 NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:0112089 nuclear type mitochondrial complex I deficiency 11 ISO RGD:1314685 D RGD:7240710 20190315 OMIM 12188546 NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:0112089 nuclear type mitochondrial complex I deficiency 11 ISO RGD:1314685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 PMID:17557076|PMID:21931170|PMID:25741868|PMID:28492532 12188546 NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:2717 Bloom syndrome ISO RGD:1314685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12188546 NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:630 genetic disease ISO RGD:1314685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12188546 NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:9256 colorectal cancer ISO RGD:1314685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12188561 ZNF410 zinc finger protein 410 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1313783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 12188561 ZNF410 zinc finger protein 410 gene DOID:1059 intellectual disability ISO RGD:1313783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12188561 ZNF410 zinc finger protein 410 gene DOID:630 genetic disease ISO RGD:1313783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188586 CIPC CLOCK interacting pacemaker gene DOID:1059 intellectual disability ISO RGD:1319859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12188586 CIPC CLOCK interacting pacemaker gene DOID:630 genetic disease ISO RGD:1319859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188600 ANKFN1 ankyrin repeat and fibronectin type III domain containing 1 gene DOID:630 genetic disease ISO RGD:1604222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188600 ANKFN1 ankyrin repeat and fibronectin type III domain containing 1 gene DOID:9004791 Stapes Ankylosis with Broad Thumbs and Toes ISO RGD:1604222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stapes ankylosis with broad thumbs and toes 12188624 HEYL hes related family bHLH transcription factor with YRPW motif like gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12188624 HEYL hes related family bHLH transcription factor with YRPW motif like gene DOID:3910 lung adenocarcinoma ISO RGD:1312792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12188624 HEYL hes related family bHLH transcription factor with YRPW motif like gene DOID:630 genetic disease ISO RGD:1312792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188624 HEYL hes related family bHLH transcription factor with YRPW motif like gene DOID:9006205 Animal Disease Models ISO RGD:1312792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12188634 SMURF1 SMAD specific E3 ubiquitin protein ligase 1 gene DOID:0060001 withdrawal disorder ISO RGD:1603623 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 12188634 SMURF1 SMAD specific E3 ubiquitin protein ligase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12188634 SMURF1 SMAD specific E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1603623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188634 SMURF1 SMAD specific E3 ubiquitin protein ligase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1594738 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:23595775|REF_RGD_ID:10412063 12188634 SMURF1 SMAD specific E3 ubiquitin protein ligase 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1603623 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 12188655 RNF169 ring finger protein 169 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1602283 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12188655 RNF169 ring finger protein 169 gene DOID:1059 intellectual disability ISO RGD:1602283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12188655 RNF169 ring finger protein 169 gene DOID:630 genetic disease ISO RGD:1602283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188665 AADACL2 arylacetamide deacetylase like 2 gene DOID:630 genetic disease ISO RGD:1606396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188678 BTBD19 BTB domain containing 19 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:3031244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12188678 BTBD19 BTB domain containing 19 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:3031244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12188678 BTBD19 BTB domain containing 19 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:3031244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12188678 BTBD19 BTB domain containing 19 gene DOID:630 genetic disease ISO RGD:3031244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188703 NUDT16 nudix hydrolase 16 gene DOID:0080600 COVID-19 ISO RGD:1347227 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12188703 NUDT16 nudix hydrolase 16 gene DOID:630 genetic disease ISO RGD:1347227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188703 NUDT16 nudix hydrolase 16 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12188703 NUDT16 nudix hydrolase 16 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12188703 NUDT16 nudix hydrolase 16 gene DOID:9270 alkaptonuria ISO RGD:1347227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12188713 OR52H1B olfactory receptor family 52 subfamily H member 1B gene DOID:630 genetic disease ISO RGD:1344719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188718 EMID1 EMI domain containing 1 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1349411 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 12188718 EMID1 EMI domain containing 1 gene DOID:630 genetic disease ISO RGD:1349411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188718 EMID1 EMI domain containing 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1349411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 12188739 MRPS17L mitochondrial ribosomal protein S17 like gene DOID:12849 autistic disorder ISO RGD:1316964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12188739 MRPS17L mitochondrial ribosomal protein S17 like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12188739 MRPS17L mitochondrial ribosomal protein S17 like gene DOID:630 genetic disease ISO RGD:1316964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188746 NEXMIF neurite extension and migration factor gene DOID:0060041 autism spectrum disorder ISO RGD:1614872 D RGD:9068941 20220825 MouseDO 12188746 NEXMIF neurite extension and migration factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12188746 NEXMIF neurite extension and migration factor gene DOID:0080462 developmental and epileptic encephalopathy 7 ISO RGD:1603497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Continuous spike and waves during slow-wave sleep syndrome PMID:23615299|PMID:25741868|PMID:27358180|PMID:28492532|PMID:29693785 12188746 NEXMIF neurite extension and migration factor gene DOID:0112044 non-syndromic X-linked intellectual disability 98 ISO RGD:1603497 D RGD:7240710 20180130 OMIM 12188746 NEXMIF neurite extension and migration factor gene DOID:0112044 non-syndromic X-linked intellectual disability 98 ISO RGD:1603497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98 PMID:15466006|PMID:23615299|PMID:24307393|PMID:25590979|PMID:25741868|PMID:25900396|PMID:26467025|PMID:26576034|PMID:27358180|PMID:27568816|PMID:28492532|PMID:29693785|PMID:32860008|PMID:33144681|PMID:34008892 12188746 NEXMIF neurite extension and migration factor gene DOID:1059 intellectual disability ISO RGD:1603497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12188746 NEXMIF neurite extension and migration factor gene DOID:12849 autistic disorder ISO RGD:1603497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12188746 NEXMIF neurite extension and migration factor gene DOID:1826 epilepsy ISO RGD:1603497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 12188746 NEXMIF neurite extension and migration factor gene DOID:630 genetic disease ISO RGD:1603497 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15466006|PMID:23615299|PMID:24307393|PMID:25741868|PMID:26467025|PMID:27358180|PMID:27568816|PMID:28492532|PMID:32860008 12188746 NEXMIF neurite extension and migration factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 12188761 PGBD2 piggyBac transposable element derived 2 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1312360 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12188761 PGBD2 piggyBac transposable element derived 2 gene DOID:630 genetic disease ISO RGD:1312360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188850 RIOX1 ribosomal oxygenase 1 gene DOID:1059 intellectual disability ISO RGD:1317046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12188854 TXNDC9 thioredoxin domain containing 9 gene DOID:630 genetic disease ISO RGD:1352767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188863 CLOCK clock circadian regulator gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1348034 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 12188863 CLOCK clock circadian regulator gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1348034 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.3111T>C (human) PMID:23912676|REF_RGD_ID:10401872 12188863 CLOCK clock circadian regulator gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1348034 D RGD:9068941 20200609 RGD DNA:snp:intron:c.560-1279C>G (rs4580704) (human) PMID:23357097|REF_RGD_ID:10401862 12188863 CLOCK clock circadian regulator gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1348034 D RGD:9068941 20200609 RGD DNA:snp:intron:c.982+247G>C (rs1554483) (human) PMID:23781009|REF_RGD_ID:10401861 12188863 CLOCK clock circadian regulator gene DOID:10763 hypertension ISO RGD:620271 D RGD:9068941 20200609 RGD mRNA:altered expression:gastrocnemius muscle (rat) PMID:22076133|REF_RGD_ID:9686076 12188863 CLOCK clock circadian regulator gene DOID:13580 cholestasis ISO RGD:620271 D RGD:9068941 20200609 RGD mRNA:increased expression:cholangiocyte PMID:21757639|REF_RGD_ID:10043349 12188863 CLOCK clock circadian regulator gene DOID:2723 dermatitis ISO RGD:1552430 D RGD:9068941 20200609 RGD PMID:21149897|REF_RGD_ID:10401871 12188863 CLOCK clock circadian regulator gene DOID:3312 bipolar disorder ISO RGD:1552430 D RGD:9068941 20220825 MouseDO 12188863 CLOCK clock circadian regulator gene DOID:535 sleep disorder ISO RGD:1552430 D RGD:9068941 20220825 MouseDO 12188863 CLOCK clock circadian regulator gene DOID:630 genetic disease ISO RGD:1348034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188863 CLOCK clock circadian regulator gene DOID:83 cataract ISO RGD:1552430 D RGD:9068941 20200609 RGD PMID:21149897|REF_RGD_ID:10401871 12188863 CLOCK clock circadian regulator gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620271 D RGD:9068941 20200609 RGD protein:increased expression:pineal gland PMID:23336172|REF_RGD_ID:10043348 12188863 CLOCK clock circadian regulator gene DOID:9351 diabetes mellitus ISO RGD:1552430 D RGD:9068941 20220825 MouseDO 12188915 ACTR2 actin related protein 2 gene DOID:0080199 colorectal carcinoma severity ISO RGD:1321952 D RGD:9068941 20200609 RGD protein:increased expression:colonic mucosa (human) PMID:14990971|REF_RGD_ID:11570560 12188915 ACTR2 actin related protein 2 gene DOID:630 genetic disease ISO RGD:1321952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188915 ACTR2 actin related protein 2 gene DOID:9000998 Brain Injuries ISO RGD:1310826 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:hippocampus (rat) PMID:22120305|REF_RGD_ID:11530046 12188915 ACTR2 actin related protein 2 gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:1310826 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cortex of kidney (rat) PMID:19617259|REF_RGD_ID:11530057 12188932 MTNR1A melatonin receptor 1A gene DOID:0060041 autism spectrum disorder ISO RGD:1352571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20657642 12188932 MTNR1A melatonin receptor 1A gene DOID:12849 autistic disorder ISO RGD:1352571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12188932 MTNR1A melatonin receptor 1A gene DOID:12858 Huntington's disease ISO RGD:1352571 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:21994366|REF_RGD_ID:9686058 12188932 MTNR1A melatonin receptor 1A gene DOID:12858 Huntington's disease treatment ISO RGD:734169 D RGD:9068941 20200609 RGD PMID:21994366|REF_RGD_ID:9686058 12188932 MTNR1A melatonin receptor 1A gene DOID:2229 factor XI deficiency ISO RGD:1352571 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:34355501 12188932 MTNR1A melatonin receptor 1A gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:734169 D RGD:9068941 20200609 RGD protein:decreased expression:spinal chord PMID:23537713|REF_RGD_ID:13524569 12188932 MTNR1A melatonin receptor 1A gene DOID:5679 retinal disease ISO RGD:1352571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21915336 12188932 MTNR1A melatonin receptor 1A gene DOID:630 genetic disease ISO RGD:1352571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188932 MTNR1A melatonin receptor 1A gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1352571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 12188932 MTNR1A melatonin receptor 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:620797 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:16441550|REF_RGD_ID:2301037 12188938 MCMDC2 minichromosome maintenance domain containing 2 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1605856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:28492532 12188938 MCMDC2 minichromosome maintenance domain containing 2 gene DOID:14227 azoospermia ISO RGD:1605856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 12188938 MCMDC2 minichromosome maintenance domain containing 2 gene DOID:630 genetic disease ISO RGD:1605856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188957 DLGAP2 DLG associated protein 2 gene DOID:12849 autistic disorder ISO RGD:1345358 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20531469 12188957 DLGAP2 DLG associated protein 2 gene DOID:5419 schizophrenia ISO RGD:1345358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12188957 DLGAP2 DLG associated protein 2 gene DOID:630 genetic disease ISO RGD:1345358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188987 HAPLN1 hyaluronan and proteoglycan link protein 1 gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:737597 D RGD:9068941 20220825 MouseDO OMIM:183900 12188987 HAPLN1 hyaluronan and proteoglycan link protein 1 gene DOID:630 genetic disease ISO RGD:1346855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12188987 HAPLN1 hyaluronan and proteoglycan link protein 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1346855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 12188987 HAPLN1 hyaluronan and proteoglycan link protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12188987 HAPLN1 hyaluronan and proteoglycan link protein 1 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1346855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9988279 12188987 HAPLN1 hyaluronan and proteoglycan link protein 1 gene DOID:9007661 Dwarfism ISO RGD:1346855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9988279 12188987 HAPLN1 hyaluronan and proteoglycan link protein 1 gene DOID:9007661 Dwarfism ISO RGD:737597 D RGD:9068941 20200609 RGD PMID:9988279|REF_RGD_ID:734826 12188987 HAPLN1 hyaluronan and proteoglycan link protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1346855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 12188987 HAPLN1 hyaluronan and proteoglycan link protein 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1346855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9988279 12189011 WWC3 WWC family member 3 gene DOID:10283 prostate cancer ISO RGD:1601752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12189011 WWC3 WWC family member 3 gene DOID:12849 autistic disorder ISO RGD:1601752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12189011 WWC3 WWC family member 3 gene DOID:630 genetic disease ISO RGD:1601752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189011 WWC3 WWC family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12189038 HAUS7 HAUS augmin like complex subunit 7 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1604614 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12189038 HAUS7 HAUS augmin like complex subunit 7 gene DOID:0050476 Barth syndrome ISO RGD:1604614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12189038 HAUS7 HAUS augmin like complex subunit 7 gene DOID:0050800 creatine transporter deficiency ISO RGD:1604614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12189038 HAUS7 HAUS augmin like complex subunit 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12189038 HAUS7 HAUS augmin like complex subunit 7 gene DOID:0112003 immunodeficiency 33 ISO RGD:1604614 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12189038 HAUS7 HAUS augmin like complex subunit 7 gene DOID:10588 adrenoleukodystrophy ISO RGD:1604614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12189038 HAUS7 HAUS augmin like complex subunit 7 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1604614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12189038 HAUS7 HAUS augmin like complex subunit 7 gene DOID:12849 autistic disorder ISO RGD:1604614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12189038 HAUS7 HAUS augmin like complex subunit 7 gene DOID:13628 favism ISO RGD:1604614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12189038 HAUS7 HAUS augmin like complex subunit 7 gene DOID:2729 dyskeratosis congenita ISO RGD:1604614 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12189038 HAUS7 HAUS augmin like complex subunit 7 gene DOID:607 paraplegia ISO RGD:1604614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12189038 HAUS7 HAUS augmin like complex subunit 7 gene DOID:630 genetic disease ISO RGD:1604614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189038 HAUS7 HAUS augmin like complex subunit 7 gene DOID:9002720 Splenomegaly ISO RGD:1604614 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12189052 H2AB3 H2A.B variant histone 3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1344236 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12189052 H2AB3 H2A.B variant histone 3 gene DOID:0050476 Barth syndrome ISO RGD:1344236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12189052 H2AB3 H2A.B variant histone 3 gene DOID:0050800 creatine transporter deficiency ISO RGD:1344236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12189052 H2AB3 H2A.B variant histone 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1344236 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12189052 H2AB3 H2A.B variant histone 3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1344236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12189052 H2AB3 H2A.B variant histone 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1344236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12189052 H2AB3 H2A.B variant histone 3 gene DOID:12849 autistic disorder ISO RGD:1344236 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12189052 H2AB3 H2A.B variant histone 3 gene DOID:607 paraplegia ISO RGD:1344236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12189052 H2AB3 H2A.B variant histone 3 gene DOID:9002720 Splenomegaly ISO RGD:1344236 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12189088 RPL38 ribosomal protein L38 gene DOID:10754 otitis media ISO RGD:1313683 D RGD:9068941 20220825 MouseDO OMIM:166760 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:0050562 West syndrome ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant PMID:25741868|PMID:28492532 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:733239 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:24183451|PMID:28492532|PMID:29068549 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:20228407|PMID:22258530|PMID:22368301|PMID:24183449|PMID:24183451|PMID:25224718|PMID:25658047|PMID:25741868|PMID:26467025|PMID:26539891|PMID:26704558|PMID:28166811|PMID:28199897|PMID:28492532|PMID:29050398|PMID:29358611|PMID:29655203|PMID:31332438|PMID:33206935|PMID:33578420|PMID:9536098 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:20228407|PMID:22258530|PMID:22368301|PMID:22722545|PMID:24183449|PMID:24183451|PMID:25224718|PMID:25640679|PMID:25658047|PMID:25741868|PMID:26467025|PMID:26539891|PMID:26704558|PMID:28199897|PMID:28379358|PMID:28492532|PMID:29050398|PMID:29358611|PMID:29655203|PMID:31332438|PMID:31452935|PMID:31515523|PMID:31785789|PMID:33206935|PMID:33578420|PMID:35150594|PMID:9536098 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:0050952 spastic ataxia ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:0060041 autism spectrum disorder ISO RGD:733239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733239 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:29050398|PMID:31474318|PMID:32963807 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:0080438 developmental and epileptic encephalopathy 5 ISO RGD:733239 D RGD:7240710 20180130 OMIM 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:0080438 developmental and epileptic encephalopathy 5 ISO RGD:733239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 5 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 5 PMID:11911890|PMID:17576681|PMID:18414213|PMID:20228407|PMID:20493457|PMID:22258530|PMID:25224718|PMID:25741868|PMID:26467025|PMID:26539891|PMID:28199897|PMID:28492532|PMID:29050398|PMID:29358611|PMID:29655203|PMID:30548380|PMID:31474318|PMID:32811770|PMID:32963807|PMID:36331550|PMID:9536098 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:0110095 short-rib thoracic dysplasia 11 with or without polydactyly ISO RGD:733239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly PMID:24183449|PMID:24183451|PMID:28379358|PMID:28492532|PMID:29068549|PMID:33578420 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:20228407|PMID:22258530|PMID:22368301|PMID:22722545|PMID:24183449|PMID:24183451|PMID:25224718|PMID:25640679|PMID:25658047|PMID:25741868|PMID:26467025|PMID:26539891|PMID:26704558|PMID:28199897|PMID:28379358|PMID:28492532|PMID:29050398|PMID:29358611|PMID:29655203|PMID:31332438|PMID:31452935|PMID:31515523|PMID:31785789|PMID:33206935|PMID:33578420|PMID:35150594|PMID:9536098 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:1059 intellectual disability ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:10907 microcephaly ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:12377 spinal muscular atrophy ISO RGD:733239 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:25741868|PMID:28492532|PMID:30548380|PMID:31332438|PMID:32811770|PMID:33578420|PMID:34590414 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:1289 neurodegenerative disease ISO RGD:733239 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25015659 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:1826 epilepsy ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizures PMID:18414213|PMID:20228407|PMID:22258530|PMID:25224718|PMID:25741868|PMID:26467025|PMID:26539891|PMID:28492532|PMID:29358611 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:1826 epilepsy ISO RGD:733239 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:18414213|PMID:20228407|PMID:22258530|PMID:25224718|PMID:25741868|PMID:26467025|PMID:26539891|PMID:28492532|PMID:29358611|PMID:33818783 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:1826 epilepsy ISO RGD:733239 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:33818783 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:25741868|PMID:28492532 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25224718|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:574 peripheral nervous system disease ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:630 genetic disease ISO RGD:733239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11911890|PMID:17331725|PMID:17576681|PMID:18414213|PMID:19344873|PMID:19348700|PMID:20228407|PMID:20493457|PMID:22159418|PMID:22258530|PMID:22429196|PMID:22632975|PMID:22656320|PMID:23390136|PMID:24896178|PMID:25108116|PMID:25224718|PMID:25477152|PMID:25613900|PMID:25631096|PMID:25741868|PMID:26467025|PMID:26539891|PMID:28492532|PMID:28567303|PMID:29050398|PMID:29358611|PMID:31332438|PMID:33206935|PMID:33578420|PMID:9536098 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868|PMID:28492532 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:870 neuropathy ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733239 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:9002510 Focal Epilepsy with Speech Disorder and with or without Mental Retardation ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT PMID:25741868|PMID:28492532 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:29050398 12189096 SPTAN1 spectrin alpha, non-erythrocytic 1 gene DOID:9008582 Developmental Disease ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12189170 COMMD10 COMM domain containing 10 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346630 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12189170 COMMD10 COMM domain containing 10 gene DOID:12849 autistic disorder ISO RGD:1346630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12189170 COMMD10 COMM domain containing 10 gene DOID:630 genetic disease ISO RGD:1346630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189170 COMMD10 COMM domain containing 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12189170 COMMD10 COMM domain containing 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346630 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12189187 EIPR1 EARP complex and GARP complex interacting protein 1 gene DOID:303 substance-related disorder ISO RGD:1314080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12189207 SLC17A7 solute carrier family 17 member 7 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12189207 SLC17A7 solute carrier family 17 member 7 gene DOID:11446 sciatic neuropathy ISO RGD:620101 D RGD:9068941 20200609 RGD protein:decreased expression:nucleus accumbens PMID:23835161|REF_RGD_ID:9999206 12189207 SLC17A7 solute carrier family 17 member 7 gene DOID:224 transient cerebral ischemia ISO RGD:620101 D RGD:9068941 20200609 RGD PMID:23458738|REF_RGD_ID:9999193 12189207 SLC17A7 solute carrier family 17 member 7 gene DOID:630 genetic disease ISO RGD:733841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189207 SLC17A7 solute carrier family 17 member 7 gene DOID:8927 learning disability ISO RGD:733841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21295146 12189207 SLC17A7 solute carrier family 17 member 7 gene DOID:9008023 Memory Disorders ISO RGD:733841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21295146 12189223 CKM creatine kinase, M-type gene DOID:326 ischemia ISO RGD:737472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21912612 12189223 CKM creatine kinase, M-type gene DOID:5844 myocardial infarction ISO RGD:737472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12359538|PMID:3279722 12189223 CKM creatine kinase, M-type gene DOID:630 genetic disease ISO RGD:737472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189223 CKM creatine kinase, M-type gene DOID:9001686 Acute Coronary Syndrome ISO RGD:737472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15966572 12189223 CKM creatine kinase, M-type gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:737472 D RGD:9068941 20200609 RGD PMID:12039490|REF_RGD_ID:1598441 12189223 CKM creatine kinase, M-type gene DOID:9002928 Colonic Neoplasms ISO RGD:737472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12189223 CKM creatine kinase, M-type gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11406506 12189235 RNF34 ring finger protein 34 gene DOID:630 genetic disease ISO RGD:1352323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189235 RNF34 ring finger protein 34 gene DOID:9002928 Colonic Neoplasms ISO RGD:1352323 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16270526 12189248 HSCB HscB mitochondrial iron-sulfur cluster cochaperone gene DOID:0111252 neurofibromatosis 2 ISO RGD:1602295 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 12189248 HSCB HscB mitochondrial iron-sulfur cluster cochaperone gene DOID:630 genetic disease ISO RGD:1602295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189248 HSCB HscB mitochondrial iron-sulfur cluster cochaperone gene DOID:9001737 Sideroblastic Anemia 5 ISO RGD:1602295 D RGD:7240710 20210929 OMIM 12189248 HSCB HscB mitochondrial iron-sulfur cluster cochaperone gene DOID:9001737 Sideroblastic Anemia 5 ISO RGD:1602295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia, sideroblastic, 5 PMID:32634119 12189248 HSCB HscB mitochondrial iron-sulfur cluster cochaperone gene DOID:9008952 Breast Cancer, Familial ISO RGD:1602295 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 12189258 TOP3B DNA topoisomerase III beta gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1319825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 12189258 TOP3B DNA topoisomerase III beta gene DOID:11198 DiGeorge syndrome ISO RGD:1319825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 12189258 TOP3B DNA topoisomerase III beta gene DOID:12849 autistic disorder ISO RGD:1319825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12189258 TOP3B DNA topoisomerase III beta gene DOID:5419 schizophrenia ISO RGD:1319825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12189258 TOP3B DNA topoisomerase III beta gene DOID:630 genetic disease ISO RGD:1319825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189289 FABP3 fatty acid binding protein 3 gene DOID:0080000 muscular disease ISO RGD:69087 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18308699 12189289 FABP3 fatty acid binding protein 3 gene DOID:10652 Alzheimer's disease ISO RGD:69087 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (human) PMID:15068254|REF_RGD_ID:1578460 12189289 FABP3 fatty acid binding protein 3 gene DOID:10763 hypertension susceptibility ISO RGD:69087 D RGD:9068941 20200609 RGD DNA:SNPs PMID:18437121|REF_RGD_ID:2307331 12189289 FABP3 fatty acid binding protein 3 gene DOID:14250 Down syndrome ISO RGD:69087 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (human) PMID:15068254|REF_RGD_ID:1578460 12189289 FABP3 fatty acid binding protein 3 gene DOID:5844 myocardial infarction ISO RGD:69087 D RGD:9068941 20200609 RGD PMID:8326460|REF_RGD_ID:1582401 12189289 FABP3 fatty acid binding protein 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69048 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:aorta PMID:7744030|REF_RGD_ID:2307330 12189289 FABP3 fatty acid binding protein 3 gene DOID:9005749 Necrosis ISO RGD:69087 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18308699 12189289 FABP3 fatty acid binding protein 3 gene DOID:9007692 Insulin Resistance severity ISO RGD:69088 D RGD:9068941 20200609 RGD PMID:16249436|REF_RGD_ID:1578459 12189289 FABP3 fatty acid binding protein 3 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69087 D RGD:9068941 20200609 RGD DNA:deletion:3' utr:c.634+483delT (human) PMID:12872269|REF_RGD_ID:1578461 12189289 FABP3 fatty acid binding protein 3 gene DOID:9970 obesity ISO RGD:69087 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:decreased expression:skeletal muscle PMID:17515913|REF_RGD_ID:2307328 12189297 BBX BBX high mobility group box domain containing gene DOID:630 genetic disease ISO RGD:1320282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189335 ATP6V0C ATPase H+ transporting V0 subunit c gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:731892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12189335 ATP6V0C ATPase H+ transporting V0 subunit c gene DOID:1826 epilepsy ISO RGD:731892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12189335 ATP6V0C ATPase H+ transporting V0 subunit c gene DOID:1827 idiopathic generalized epilepsy ISO RGD:731892 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12189335 ATP6V0C ATPase H+ transporting V0 subunit c gene DOID:3963 thyroid gland carcinoma disease_progression ISO RGD:731892 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:30884810|REF_RGD_ID:14696825 12189335 ATP6V0C ATPase H+ transporting V0 subunit c gene DOID:630 genetic disease ISO RGD:731892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189342 NTN3 netrin 3 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:732796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 12189342 NTN3 netrin 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:732796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12189342 NTN3 netrin 3 gene DOID:1826 epilepsy ISO RGD:732796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12189342 NTN3 netrin 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:732796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12189342 NTN3 netrin 3 gene DOID:630 genetic disease ISO RGD:732796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189358 CHIA chitinase acidic gene DOID:0050127 sinusitis severity ISO RGD:1604020 D RGD:9068941 20200609 RGD mRNA:decreased expression:sinus, epithelial cell (human) PMID:19379605|REF_RGD_ID:5037227 12189358 CHIA chitinase acidic gene DOID:10325 silicosis ISO RGD:1303058 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:18685790|REF_RGD_ID:4893904 12189358 CHIA chitinase acidic gene DOID:12053 cryptococcosis ISO RGD:1303058 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:18482441|REF_RGD_ID:4990459 12189358 CHIA chitinase acidic gene DOID:12849 autistic disorder ISO RGD:1604020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12189358 CHIA chitinase acidic gene DOID:2841 asthma ISO RGD:1604020 D RGD:9068941 20200609 RGD DNA:snps:5' utr, cds:multiple (human) PMID:16179638|REF_RGD_ID:4996473 12189358 CHIA chitinase acidic gene DOID:2841 asthma ISO RGD:1604020 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, epithelial cell (human) PMID:15192232|REF_RGD_ID:4985150 12189358 CHIA chitinase acidic gene DOID:2841 asthma ISO RGD:1615785 D RGD:9068941 20200609 RGD PMID:19548841|REF_RGD_ID:5024921 12189358 CHIA chitinase acidic gene DOID:2841 asthma ISO RGD:1615785 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:14734765|REF_RGD_ID:4990463 12189358 CHIA chitinase acidic gene DOID:2841 asthma no_association ISO RGD:1604020 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:20226308|REF_RGD_ID:5024922 12189358 CHIA chitinase acidic gene DOID:630 genetic disease ISO RGD:1604020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189358 CHIA chitinase acidic gene DOID:9001472 Nasal Polyps ISO RGD:1604020 D RGD:9068941 20200609 RGD associated with Sinusitis; mRNA:increased expression:mucosa of ethmoidal sinus (human) PMID:16871939|REF_RGD_ID:5024927 12189358 CHIA chitinase acidic gene DOID:9003281 Spontaneous Abortions ISO RGD:1604020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12189358 CHIA chitinase acidic gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1604020 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:turbinate, mucosa (human) PMID:20422678|REF_RGD_ID:5037226 12189358 CHIA chitinase acidic gene DOID:9005372 Inflammation ISO RGD:1615785 D RGD:9068941 20200609 RGD PMID:17450126|REF_RGD_ID:5024919 12189373 PSME1 proteasome activator subunit 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:733032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12189373 PSME1 proteasome activator subunit 1 gene DOID:305 carcinoma ISO RGD:733032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12189373 PSME1 proteasome activator subunit 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:733032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12189373 PSME1 proteasome activator subunit 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12189373 PSME1 proteasome activator subunit 1 gene DOID:630 genetic disease ISO RGD:733032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189373 PSME1 proteasome activator subunit 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:733032 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12189373 PSME1 proteasome activator subunit 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12189373 PSME1 proteasome activator subunit 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:733032 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12189373 PSME1 proteasome activator subunit 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12189388 DYNLL2 dynein light chain LC8-type 2 gene DOID:0050777 Joubert syndrome ISO RGD:730979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12189388 DYNLL2 dynein light chain LC8-type 2 gene DOID:1059 intellectual disability ISO RGD:730979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12189388 DYNLL2 dynein light chain LC8-type 2 gene DOID:630 genetic disease ISO RGD:730979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189404 MORF4L2 mortality factor 4 like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12189404 MORF4L2 mortality factor 4 like 2 gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:1347861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 PMID:10417279|PMID:16380909|PMID:18160035|PMID:19328639|PMID:28492532|PMID:9634530 12189404 MORF4L2 mortality factor 4 like 2 gene DOID:12849 autistic disorder ISO RGD:1347861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12189404 MORF4L2 mortality factor 4 like 2 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1347861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:31690835|PMID:9633722|PMID:9634530 12189404 MORF4L2 mortality factor 4 like 2 gene DOID:630 genetic disease ISO RGD:1347861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189404 MORF4L2 mortality factor 4 like 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1347861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12189415 RAB9B RAB9B, member RAS oncogene family gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12189415 RAB9B RAB9B, member RAS oncogene family gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:1353231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 PMID:10319897|PMID:10417279|PMID:11093273|PMID:12601703|PMID:12910435|PMID:1384324|PMID:14452137|PMID:14745569|PMID:15450775|PMID:15712223|PMID:16199547|PMID:16287154|PMID:16380909|PMID:16844304|PMID:17438221|PMID:17576681|PMID:18160035|PMID:18414213|PMID:18470932|PMID:19328639|PMID:19825935|PMID:19955111|PMID:20022439|PMID:21679407|PMID:22016529|PMID:22343157|PMID:22695888|PMID:23344956|PMID:23347225|PMID:24088041|PMID:24139698|PMID:24519770|PMID:2479017|PMID:2480601|PMID:24890387|PMID:24936452|PMID:25741868|PMID:26125040|PMID:26467025|PMID:26633545|PMID:26786043|PMID:26795593|PMID:27535533|PMID:2773936|PMID:28366443|PMID:28492532|PMID:29451896|PMID:30314286|PMID:30337681|PMID:33504798|PMID:34782662|PMID:3827224|PMID:7488049|PMID:7522741|PMID:7531827|PMID:8012387|PMID:8320699|PMID:8723686|PMID:8786077|PMID:8956049|PMID:9056547|PMID:9106132|PMID:9247276|PMID:9427151|PMID:9489796|PMID:9536098|PMID:9634530|PMID:9934976 12189415 RAB9B RAB9B, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1353231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12189415 RAB9B RAB9B, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:1353231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12189415 RAB9B RAB9B, member RAS oncogene family gene DOID:2476 hereditary spastic paraplegia ISO RGD:1353231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:10319897|PMID:15712223|PMID:25741868|PMID:26467025|PMID:28492532 12189415 RAB9B RAB9B, member RAS oncogene family gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1353231 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, atypical | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, connatal | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, mild PMID:10319897|PMID:10417279|PMID:11071483|PMID:11093273|PMID:12297985|PMID:12605435|PMID:12910435|PMID:1376966|PMID:1384324|PMID:15712223|PMID:1605230|PMID:16380909|PMID:16778599|PMID:1707231|PMID:1715570|PMID:1720927|PMID:18414213|PMID:18470932|PMID:18835559|PMID:19396823|PMID:20022439|PMID:20301361|PMID:21679407|PMID:22343157|PMID:22695888|PMID:24088041|PMID:24139698|PMID:24519770|PMID:2479017|PMID:2480601|PMID:25326635|PMID:25491635|PMID:25741868|PMID:26125040|PMID:26467025|PMID:26633545|PMID:26795593|PMID:27535533|PMID:2773936|PMID:28286750|PMID:28492532|PMID:29451896|PMID:31690835|PMID:3827224|PMID:7488049|PMID:7573159|PMID:7574457|PMID:7683951|PMID:8696336|PMID:8723686|PMID:8786077|PMID:9056547|PMID:9482656|PMID:9633722|PMID:9634530 12189415 RAB9B RAB9B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1353231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10401787|PMID:10417279|PMID:12910435|PMID:17576681|PMID:17962415|PMID:18414213|PMID:18470932|PMID:20022439|PMID:22343157|PMID:23771846|PMID:25491635|PMID:25741868|PMID:26467025|PMID:26795593|PMID:28492532|PMID:29451896|PMID:30337681|PMID:8786077|PMID:9536098 12189415 RAB9B RAB9B, member RAS oncogene family gene DOID:9007428 Muscle Spasticity ISO RGD:1353231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spasticity 12189415 RAB9B RAB9B, member RAS oncogene family gene DOID:9008086 Developmental Disabilities ISO RGD:1353231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12189422 IL1R2 interleukin 1 receptor type 2 gene DOID:0050686 organ system cancer ISO RGD:1352690 D RGD:9068941 20220715 RGD DNA:SNP:CDS:rs4141134 (human) PMID:25158664|REF_RGD_ID:152998994 12189422 IL1R2 interleukin 1 receptor type 2 gene DOID:1205 allergic disease ISO RGD:1352690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12189422 IL1R2 interleukin 1 receptor type 2 gene DOID:1324 lung cancer susceptibility ISO RGD:1352690 D RGD:9068941 20220714 RGD DNA:SNP:CDS:multiple (human) PMID:30895747|REF_RGD_ID:152998976 12189422 IL1R2 interleukin 1 receptor type 2 gene DOID:1474 aggressive periodontitis ISO RGD:1352690 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :rs3819370, rs3218974,rs3218977(human) PMID:24818754|REF_RGD_ID:8662885 12189422 IL1R2 interleukin 1 receptor type 2 gene DOID:1474 aggressive periodontitis ISO RGD:1352690 D RGD:9068941 20200609 RGD associated with Periodontitis; PMID:18315432|REF_RGD_ID:8662884 12189422 IL1R2 interleukin 1 receptor type 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1352690 D RGD:9068941 20220714 RGD mRNA:altered expression:lung (human) PMID:31921619|REF_RGD_ID:152998982 12189422 IL1R2 interleukin 1 receptor type 2 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1352690 D RGD:9068941 20220715 RGD mRNA:increased expression:lung (human) PMID:29942094|REF_RGD_ID:152998998 12189422 IL1R2 interleukin 1 receptor type 2 gene DOID:409 liver disease ISO RGD:1352690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12189422 IL1R2 interleukin 1 receptor type 2 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1352690 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 12189422 IL1R2 interleukin 1 receptor type 2 gene DOID:5041 esophageal cancer susceptibility ISO RGD:1352690 D RGD:9068941 20220714 RGD DNA:SNP:cds:rs11674595|rs2072472 (human) PMID:31744444|REF_RGD_ID:152998961 12189422 IL1R2 interleukin 1 receptor type 2 gene DOID:552 pneumonia ISO RGD:1352690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12189422 IL1R2 interleukin 1 receptor type 2 gene DOID:552 pneumonia ISO RGD:1352690 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12189422 IL1R2 interleukin 1 receptor type 2 gene DOID:630 genetic disease ISO RGD:1352690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189422 IL1R2 interleukin 1 receptor type 2 gene DOID:7147 ankylosing spondylitis ISO RGD:1352690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062062 12189422 IL1R2 interleukin 1 receptor type 2 gene DOID:8577 ulcerative colitis ISO RGD:1352690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 12189422 IL1R2 interleukin 1 receptor type 2 gene DOID:9000307 Presbycusis ISO RGD:731689 D RGD:9068941 20200609 RGD PMID:22652460|REF_RGD_ID:8662870 12189422 IL1R2 interleukin 1 receptor type 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1352690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12189422 IL1R2 interleukin 1 receptor type 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17984051 12189438 NFX1 nuclear transcription factor, X-box binding 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1321083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12189438 NFX1 nuclear transcription factor, X-box binding 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1321083 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12189438 NFX1 nuclear transcription factor, X-box binding 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1321083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12189438 NFX1 nuclear transcription factor, X-box binding 1 gene DOID:630 genetic disease ISO RGD:1321083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189438 NFX1 nuclear transcription factor, X-box binding 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12189438 NFX1 nuclear transcription factor, X-box binding 1 gene DOID:9870 galactosemia ISO RGD:1321083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12189475 NHLH2 nescient helix-loop-helix 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 12189475 NHLH2 nescient helix-loop-helix 2 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1317985 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868|PMID:35066646 12189475 NHLH2 nescient helix-loop-helix 2 gene DOID:1921 Klinefelter syndrome ISO RGD:1317985 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868|PMID:35066646 12189475 NHLH2 nescient helix-loop-helix 2 gene DOID:630 genetic disease ISO RGD:1317985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189475 NHLH2 nescient helix-loop-helix 2 gene DOID:9006791 Hypogonadotropic Hypogonadism 27 without Anosmia ISO RGD:1317985 D RGD:7240710 20220223 OMIM 12189475 NHLH2 nescient helix-loop-helix 2 gene DOID:9006791 Hypogonadotropic Hypogonadism 27 without Anosmia ISO RGD:1317985 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 27 without anosmia PMID:25741868|PMID:35066646 12189475 NHLH2 nescient helix-loop-helix 2 gene DOID:9970 obesity ISO RGD:1317985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20808804 12189482 FKBP7 FKBP prolyl isomerase 7 gene DOID:0090048 dystonia 16 ISO RGD:1313236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 16 PMID:28492532 12189482 FKBP7 FKBP prolyl isomerase 7 gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1313236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:18948003|PMID:23975875|PMID:24395473|PMID:25589632|PMID:28492532|PMID:30557390 12189482 FKBP7 FKBP prolyl isomerase 7 gene DOID:630 genetic disease ISO RGD:1313236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189494 INHA inhibin subunit alpha gene DOID:0111545 familial male-limited precocious puberty ISO RGD:736727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16684832 12189494 INHA inhibin subunit alpha gene DOID:10283 prostate cancer ISO RGD:736727 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:malignant tumors PMID:9506758|REF_RGD_ID:2290384 12189494 INHA inhibin subunit alpha gene DOID:10286 prostate carcinoma ISO RGD:736727 D RGD:9068941 20200609 RGD DNA:hypermethylation,loss of heterozygosity:promoter,genomic region:significant hypermethylation (P<0.001) in tumors vs nonmalignant controls, LOH at 2q32-36 in 42% of cases PMID:11818495|REF_RGD_ID:2290381 12189494 INHA inhibin subunit alpha gene DOID:1148 polydactyly ISO RGD:736727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 12189494 INHA inhibin subunit alpha gene DOID:192 sex cord-gonadal stromal tumor susceptibility ISO RGD:10808 D RGD:9068941 20200609 RGD PMID:8090730|REF_RGD_ID:2301690 12189494 INHA inhibin subunit alpha gene DOID:2696 Leydig cell tumor ISO RGD:2912 D RGD:9068941 20200609 RGD protein:increased expression:plasma, testis:observed in aged male Tig:Wistar rats PMID:11545298|REF_RGD_ID:2290379 12189494 INHA inhibin subunit alpha gene DOID:2997 Sertoli-Leydig cell tumor ISO RGD:736727 D RGD:9068941 20200609 RGD protein:increased expression:tumor:focal expression in Sertoli cells, stronger diffuse expression in Leydig cells PMID:17414107|REF_RGD_ID:2290367 12189494 INHA inhibin subunit alpha gene DOID:3008 invasive ductal carcinoma ISO RGD:736727 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:significantly lower in invasive, infiltrating and metastatic tumors than in ductal carcinoma in situ tumors PMID:15583806|REF_RGD_ID:2290390 12189494 INHA inhibin subunit alpha gene DOID:3308 embryonal carcinoma ISO RGD:736727 D RGD:9068941 20200609 RGD protein:increased expression:tumor PMID:11720904|REF_RGD_ID:2290380 12189494 INHA inhibin subunit alpha gene DOID:3577 Sertoli cell tumor ISO RGD:10808 D RGD:9068941 20200609 RGD reexpression in tumor derived cells eliminates the transformed phenotype PMID:10602485|REF_RGD_ID:2290369 12189494 INHA inhibin subunit alpha gene DOID:4440 seminoma ISO RGD:736727 D RGD:9068941 20200609 RGD protein:increased expression:tumor PMID:11720904|REF_RGD_ID:2290380 12189494 INHA inhibin subunit alpha gene DOID:4441 dysgerminoma ISO RGD:736727 D RGD:9068941 20200609 RGD protein:increased expression:tumor PMID:11720904|REF_RGD_ID:2290380 12189494 INHA inhibin subunit alpha gene DOID:5426 primary ovarian insufficiency ISO RGD:736727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:24033266|PMID:25741868 12189494 INHA inhibin subunit alpha gene DOID:630 genetic disease ISO RGD:736727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189494 INHA inhibin subunit alpha gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:736727 D RGD:9068941 20200609 RGD DNA:SNP PMID:18413775|REF_RGD_ID:2301687 12189494 INHA inhibin subunit alpha gene DOID:9001205 Experimental Autoimmune Orchitis ISO RGD:2912 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:11431143|REF_RGD_ID:8694089 12189494 INHA inhibin subunit alpha gene DOID:9002762 Ovarian Neoplasms ISO RGD:736727 D RGD:9068941 20200609 RGD protein:increased expression:tumors PMID:10435065|REF_RGD_ID:2290383 12189494 INHA inhibin subunit alpha gene DOID:9003281 Spontaneous Abortions ISO RGD:736727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12189494 INHA inhibin subunit alpha gene DOID:9004265 Endometrioid Carcinomas ISO RGD:736727 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:significantly higher in normal compared to malignant tissue PMID:17143484|REF_RGD_ID:2290368 12189494 INHA inhibin subunit alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12189494 INHA inhibin subunit alpha gene DOID:9007715 Endometrial Neoplasms ISO RGD:736727 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium PMID:15745937|REF_RGD_ID:1579943 12189500 TRMT44 tRNA methyltransferase 44 homolog gene DOID:630 genetic disease ISO RGD:1602178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189517 SLC37A2 solute carrier family 37 member 2 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1313712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12189517 SLC37A2 solute carrier family 37 member 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1313712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12189517 SLC37A2 solute carrier family 37 member 2 gene DOID:5419 schizophrenia ISO RGD:1313712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12189517 SLC37A2 solute carrier family 37 member 2 gene DOID:630 genetic disease ISO RGD:1313712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189517 SLC37A2 solute carrier family 37 member 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1313712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12189517 SLC37A2 solute carrier family 37 member 2 gene DOID:9007661 Dwarfism ISO RGD:1313712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12189544 PHLPP2 PH domain and leucine rich repeat protein phosphatase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12189544 PHLPP2 PH domain and leucine rich repeat protein phosphatase 2 gene DOID:630 genetic disease ISO RGD:1604636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189567 WDR47 WD repeat domain 47 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1343602 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12189567 WDR47 WD repeat domain 47 gene DOID:12849 autistic disorder ISO RGD:1343602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:21681106|PMID:30208311 12189567 WDR47 WD repeat domain 47 gene DOID:630 genetic disease ISO RGD:1343602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189603 KRT31 keratin 31 gene DOID:630 genetic disease ISO RGD:1315199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189614 CRB2 crumbs cell polarity complex component 2 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1347869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:25557779|PMID:25741868|PMID:27004616|PMID:27942854|PMID:28492532|PMID:30212996|PMID:32581362 12189614 CRB2 crumbs cell polarity complex component 2 gene DOID:0111134 focal segmental glomerulosclerosis 9 ISO RGD:1347869 D RGD:7240710 20180130 OMIM 12189614 CRB2 crumbs cell polarity complex component 2 gene DOID:0111134 focal segmental glomerulosclerosis 9 ISO RGD:1347869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 9 PMID:25557779|PMID:25741868|PMID:27004616|PMID:27942854|PMID:28492532|PMID:30212996|PMID:32581362|PMID:33532864 12189614 CRB2 crumbs cell polarity complex component 2 gene DOID:0111625 ventriculomegaly - cystic kidney disease ISO RGD:1347869 D RGD:7240710 20180130 OMIM 12189614 CRB2 crumbs cell polarity complex component 2 gene DOID:0111625 ventriculomegaly - cystic kidney disease ISO RGD:1347869 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ventriculomegaly-cystic kidney disease PMID:25557779|PMID:25557780|PMID:25741868|PMID:26925547|PMID:27004616|PMID:27942854|PMID:28492532|PMID:30212996|PMID:30996265|PMID:32581362 12189614 CRB2 crumbs cell polarity complex component 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1551852 D RGD:9068941 20200609 RGD PMID:24493795|REF_RGD_ID:8552786 12189614 CRB2 crumbs cell polarity complex component 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1551852 D RGD:9068941 20220825 MouseDO OMIM:268000 12189614 CRB2 crumbs cell polarity complex component 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1347869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12189614 CRB2 crumbs cell polarity complex component 2 gene DOID:14791 Leber congenital amaurosis ISO RGD:1551852 D RGD:9068941 20200609 RGD PMID:24339791|REF_RGD_ID:8552784 12189614 CRB2 crumbs cell polarity complex component 2 gene DOID:630 genetic disease ISO RGD:1347869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19344873|PMID:25557779|PMID:25741868|PMID:27004616|PMID:27535533|PMID:27942854|PMID:28492532|PMID:30212996|PMID:32581362 12189628 FAM107B family with sequence similarity 107 member B gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1346416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12189628 FAM107B family with sequence similarity 107 member B gene DOID:630 genetic disease ISO RGD:1346416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189643 CDK7 cyclin dependent kinase 7 gene DOID:10652 Alzheimer's disease ISO RGD:734279 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:11124424|REF_RGD_ID:10059352 12189643 CDK7 cyclin dependent kinase 7 gene DOID:630 genetic disease ISO RGD:734279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189643 CDK7 cyclin dependent kinase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12189665 TRAIP TRAF interacting protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1601884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12189665 TRAIP TRAF interacting protein gene DOID:0070005 Seckel syndrome 9 ISO RGD:1601884 D RGD:7240710 20190315 OMIM 12189665 TRAIP TRAF interacting protein gene DOID:0070005 Seckel syndrome 9 ISO RGD:1601884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seckel syndrome 9 PMID:25741868|PMID:26595769|PMID:28492532|PMID:31974414 12189665 TRAIP TRAF interacting protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1601884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12189665 TRAIP TRAF interacting protein gene DOID:10907 microcephaly ISO RGD:1601884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26595769 12189665 TRAIP TRAF interacting protein gene DOID:630 genetic disease ISO RGD:1601884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12189665 TRAIP TRAF interacting protein gene DOID:684 hepatocellular carcinoma ISO RGD:1601884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12189665 TRAIP TRAF interacting protein gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1601884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12189665 TRAIP TRAF interacting protein gene DOID:9007661 Dwarfism ISO RGD:1601884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26595769 12189665 TRAIP TRAF interacting protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:1601884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12189686 HS1BP3 HCLS1 binding protein 3 gene DOID:630 genetic disease ISO RGD:1602467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189696 RAB1B RAB1B, member RAS oncogene family gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1345480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 12189696 RAB1B RAB1B, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1345480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12189696 RAB1B RAB1B, member RAS oncogene family gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1345480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12189696 RAB1B RAB1B, member RAS oncogene family gene DOID:2746 glycogen storage disease V ISO RGD:1345480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12189696 RAB1B RAB1B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1345480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189696 RAB1B RAB1B, member RAS oncogene family gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1345480 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12189696 RAB1B RAB1B, member RAS oncogene family gene DOID:9007102 Myocardial Ischemia ISO RGD:1345480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12189696 RAB1B RAB1B, member RAS oncogene family gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1345480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12189706 PRPF19 pre-mRNA processing factor 19 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1353674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12189706 PRPF19 pre-mRNA processing factor 19 gene DOID:1059 intellectual disability ISO RGD:1353674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12189706 PRPF19 pre-mRNA processing factor 19 gene DOID:630 genetic disease ISO RGD:1353674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189706 PRPF19 pre-mRNA processing factor 19 gene DOID:9000217 Stomach Neoplasms ISO RGD:1353674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12189706 PRPF19 pre-mRNA processing factor 19 gene DOID:9000918 Disease Progression ISO RGD:1353674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12189706 PRPF19 pre-mRNA processing factor 19 gene DOID:9008386 Hydrops Fetalis ISO RGD:1353674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 12189729 ISM2 isthmin 2 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1603577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 12189729 ISM2 isthmin 2 gene DOID:630 genetic disease ISO RGD:1603577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189742 WNT4 Wnt family member 4 gene DOID:0060369 Parkinson's disease 6 ISO RGD:733867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12189742 WNT4 Wnt family member 4 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:733867 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12189742 WNT4 Wnt family member 4 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:733867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12189742 WNT4 Wnt family member 4 gene DOID:0111526 Mullerian aplasia and hyperandrogenism ISO RGD:733867 D RGD:7240710 20180130 OMIM 12189742 WNT4 Wnt family member 4 gene DOID:0111526 Mullerian aplasia and hyperandrogenism ISO RGD:733867 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mullerian aplasia and hyperandrogenism PMID:12016514|PMID:15317892|PMID:16959810|PMID:18182450|PMID:18987495|PMID:25741868|PMID:28492532 12189742 WNT4 Wnt family member 4 gene DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome ISO RGD:733867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome PMID:25741868 12189742 WNT4 Wnt family member 4 gene DOID:2871 endometrial carcinoma ISO RGD:733867 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:vs normal endometrium PMID:9099960|REF_RGD_ID:2291875 12189742 WNT4 Wnt family member 4 gene DOID:3021 acute kidney failure ISO RGD:621348 D RGD:9068941 20200609 RGD PMID:12707392|REF_RGD_ID:727218 12189742 WNT4 Wnt family member 4 gene DOID:4001 ovarian carcinoma ISO RGD:733867 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:25581431 12189742 WNT4 Wnt family member 4 gene DOID:557 kidney disease ISO RGD:733867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11832423 12189742 WNT4 Wnt family member 4 gene DOID:630 genetic disease ISO RGD:733867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189742 WNT4 Wnt family member 4 gene DOID:9001611 Urogenital Abnormalities ISO RGD:733867 D RGD:9068941 20200609 RGD utero-vaginal atresia (MRKH), OMIM:277000 PMID:15317892|REF_RGD_ID:1599857 12189742 WNT4 Wnt family member 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12189742 WNT4 Wnt family member 4 gene DOID:9002739 Female Urogenital Diseases ISO RGD:733867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 12189742 WNT4 Wnt family member 4 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:733867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12189742 WNT4 Wnt family member 4 gene DOID:9006947 Fibroadenoma ISO RGD:733867 D RGD:9068941 20200609 RGD breast fibroadenoma; mRNA:increased expression:tumor:increased vs normal and malignant breast tissue (p=0.001) PMID:8168088|REF_RGD_ID:2291878 12189742 WNT4 Wnt family member 4 gene DOID:9007661 Dwarfism ISO RGD:733867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17505543 12189742 WNT4 Wnt family member 4 gene DOID:9008540 46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs ISO RGD:733867 D RGD:7240710 20180130 OMIM 12189742 WNT4 Wnt family member 4 gene DOID:9008540 46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs ISO RGD:733867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SERKAL syndrome PMID:18179883|PMID:25741868 12189754 CD207 CD207 molecule gene DOID:543 dystonia ISO RGD:1347897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12189754 CD207 CD207 molecule gene DOID:630 genetic disease ISO RGD:1347897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189754 CD207 CD207 molecule gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1347897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12189810 BTAF1 B-TFIID TATA-box binding protein associated factor 1 gene DOID:630 genetic disease ISO RGD:1352187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189900 PDIA3 protein disulfide isomerase family A member 3 gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:1606336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 12189900 PDIA3 protein disulfide isomerase family A member 3 gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1606336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 16 PMID:25741868 12189900 PDIA3 protein disulfide isomerase family A member 3 gene DOID:1059 intellectual disability ISO RGD:1606336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12189900 PDIA3 protein disulfide isomerase family A member 3 gene DOID:11088 asphyxia neonatorum ISO RGD:68430 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:15453273|REF_RGD_ID:9999183 12189900 PDIA3 protein disulfide isomerase family A member 3 gene DOID:14566 disease of cellular proliferation ISO RGD:1606336 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17353921 12189900 PDIA3 protein disulfide isomerase family A member 3 gene DOID:2048 autoimmune hepatitis ISO RGD:1606336 D RGD:9068941 20200609 RGD PMID:20208391|REF_RGD_ID:9999172 12189900 PDIA3 protein disulfide isomerase family A member 3 gene DOID:2048 autoimmune hepatitis ISO RGD:68430 D RGD:9068941 20200609 RGD PMID:20208391|REF_RGD_ID:9999172 12189900 PDIA3 protein disulfide isomerase family A member 3 gene DOID:2055 post-traumatic stress disorder ISO RGD:68430 D RGD:9068941 20200609 RGD PMID:25331812|REF_RGD_ID:13782181 12189900 PDIA3 protein disulfide isomerase family A member 3 gene DOID:2717 Bloom syndrome ISO RGD:1606336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12189900 PDIA3 protein disulfide isomerase family A member 3 gene DOID:5082 liver cirrhosis ISO RGD:68430 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:24562544|REF_RGD_ID:9999176 12189900 PDIA3 protein disulfide isomerase family A member 3 gene DOID:5082 liver cirrhosis severity ISO RGD:1606336 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:24562544|REF_RGD_ID:9999176 12189900 PDIA3 protein disulfide isomerase family A member 3 gene DOID:5434 scrapie ISO RGD:1553192 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:15772339|REF_RGD_ID:9999196 12189900 PDIA3 protein disulfide isomerase family A member 3 gene DOID:630 genetic disease ISO RGD:1606336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189900 PDIA3 protein disulfide isomerase family A member 3 gene DOID:6432 pulmonary hypertension ISO RGD:68430 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:23315792|REF_RGD_ID:9999167 12189900 PDIA3 protein disulfide isomerase family A member 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1606336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12189900 PDIA3 protein disulfide isomerase family A member 3 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1606336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 12189900 PDIA3 protein disulfide isomerase family A member 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 12189900 PDIA3 protein disulfide isomerase family A member 3 gene DOID:9002477 Sensorineural Deafness and Male Infertility ISO RGD:1606336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness-infertility syndrome PMID:25741868 12189900 PDIA3 protein disulfide isomerase family A member 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:68430 D RGD:9068941 20200609 RGD PMID:12872233|REF_RGD_ID:1624250 12189900 PDIA3 protein disulfide isomerase family A member 3 gene DOID:9007993 Dehydration ISO RGD:68430 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:17412804|REF_RGD_ID:1642352 12189900 PDIA3 protein disulfide isomerase family A member 3 gene DOID:9256 colorectal cancer ISO RGD:1606336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12189900 PDIA3 protein disulfide isomerase family A member 3 gene DOID:9778 irritable bowel syndrome ISO RGD:68430 D RGD:9068941 20200609 RGD protein:increased expression:colonic mucosa: PMID:20367971|REF_RGD_ID:9999158 12189900 PDIA3 protein disulfide isomerase family A member 3 gene DOID:9778 irritable bowel syndrome severity ISO RGD:68430 D RGD:9068941 20200609 RGD PMID:26221224|REF_RGD_ID:13838729 12189917 MARCHF7 membrane associated ring-CH-type finger 7 gene DOID:12849 autistic disorder ISO RGD:1603971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 12189917 MARCHF7 membrane associated ring-CH-type finger 7 gene DOID:630 genetic disease ISO RGD:1603971 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189947 GANAB glucosidase II alpha subunit gene DOID:0050770 polycystic liver disease ISO RGD:1320293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:25741868|PMID:28492532|PMID:33097077 12189947 GANAB glucosidase II alpha subunit gene DOID:0080322 polycystic kidney disease ISO RGD:1320293 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:27259053|REF_RGD_ID:11352639 12189947 GANAB glucosidase II alpha subunit gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1320293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 12189947 GANAB glucosidase II alpha subunit gene DOID:0110860 polycystic kidney disease 3 ISO RGD:1320293 D RGD:7240710 20190315 OMIM 12189947 GANAB glucosidase II alpha subunit gene DOID:0110860 polycystic kidney disease 3 ISO RGD:1320293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 3 PMID:25741868|PMID:27259053|PMID:28492532|PMID:33097077 12189947 GANAB glucosidase II alpha subunit gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1320293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12189947 GANAB glucosidase II alpha subunit gene DOID:1059 intellectual disability ISO RGD:1320293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12189947 GANAB glucosidase II alpha subunit gene DOID:630 genetic disease ISO RGD:1320293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12189947 GANAB glucosidase II alpha subunit gene DOID:784 chronic kidney disease ISO RGD:1320293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 12189947 GANAB glucosidase II alpha subunit gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1320293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease 12189947 GANAB glucosidase II alpha subunit gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1320293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Isolated polycystic liver disease PMID:25741868|PMID:28492532|PMID:33097077 12189947 GANAB glucosidase II alpha subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1320293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12189977 SLC38A11 solute carrier family 38 member 11 gene DOID:1826 epilepsy ISO RGD:1605863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 12189977 SLC38A11 solute carrier family 38 member 11 gene DOID:630 genetic disease ISO RGD:1605863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189995 SLC25A29 solute carrier family 25 member 29 gene DOID:0080600 COVID-19 ISO RGD:1317684 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12189995 SLC25A29 solute carrier family 25 member 29 gene DOID:630 genetic disease ISO RGD:1317684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12189995 SLC25A29 solute carrier family 25 member 29 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1317684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12190004 CYTH1 cytohesin 1 gene DOID:0060224 atrial fibrillation ISO RGD:736054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12190004 CYTH1 cytohesin 1 gene DOID:630 genetic disease ISO RGD:736054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190039 TMEM79 transmembrane protein 79 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1601945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12190039 TMEM79 transmembrane protein 79 gene DOID:0111940 immunodeficiency 42 ISO RGD:1601945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12190039 TMEM79 transmembrane protein 79 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1601945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12190039 TMEM79 transmembrane protein 79 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1601945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12190039 TMEM79 transmembrane protein 79 gene DOID:1540 parathyroid carcinoma ISO RGD:1601945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12190039 TMEM79 transmembrane protein 79 gene DOID:3310 atopic dermatitis ISO RGD:1332023 D RGD:9068941 20220825 MouseDO OMIM:603165 12190039 TMEM79 transmembrane protein 79 gene DOID:5812 MHC class II deficiency ISO RGD:1601945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12190039 TMEM79 transmembrane protein 79 gene DOID:630 genetic disease ISO RGD:1601945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190039 TMEM79 transmembrane protein 79 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12190047 PABPC1 poly(A) binding protein cytoplasmic 1 gene DOID:0080600 COVID-19 ISO RGD:1349848 D RGD:9068941 20200709 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 12190047 PABPC1 poly(A) binding protein cytoplasmic 1 gene DOID:0111590 Cohen syndrome ISO RGD:1349848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12190047 PABPC1 poly(A) binding protein cytoplasmic 1 gene DOID:11054 urinary bladder cancer ISO RGD:1349848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25783786 12190047 PABPC1 poly(A) binding protein cytoplasmic 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1349848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25783786 12190047 PABPC1 poly(A) binding protein cytoplasmic 1 gene DOID:3307 teratoma ISO RGD:1349848 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 12190047 PABPC1 poly(A) binding protein cytoplasmic 1 gene DOID:630 genetic disease ISO RGD:1349848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190047 PABPC1 poly(A) binding protein cytoplasmic 1 gene DOID:9007098 Pulmonary Atresia ISO RGD:1349848 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 12190047 PABPC1 poly(A) binding protein cytoplasmic 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1349848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12190069 MRPL44 mitochondrial ribosomal protein L44 gene DOID:0111469 combined oxidative phosphorylation deficiency 16 ISO RGD:1319960 D RGD:7240710 20180130 OMIM 12190069 MRPL44 mitochondrial ribosomal protein L44 gene DOID:0111469 combined oxidative phosphorylation deficiency 16 ISO RGD:1319960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency PMID:23315540|PMID:25326637|PMID:25741868|PMID:25797485|PMID:26001801|PMID:26968897|PMID:28492532|PMID:33726816|PMID:34140213 12190069 MRPL44 mitochondrial ribosomal protein L44 gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1319960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 PMID:25741868 12190069 MRPL44 mitochondrial ribosomal protein L44 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1319960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:28492532 12190069 MRPL44 mitochondrial ribosomal protein L44 gene DOID:630 genetic disease ISO RGD:1319960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 12190069 MRPL44 mitochondrial ribosomal protein L44 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12190077 ZNHIT3 zinc finger HIT-type containing 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1315114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 12190077 ZNHIT3 zinc finger HIT-type containing 3 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1315114 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 12190077 ZNHIT3 zinc finger HIT-type containing 3 gene DOID:0080539 PEHO syndrome ISO RGD:1315114 D RGD:7240710 20190315 OMIM 12190077 ZNHIT3 zinc finger HIT-type containing 3 gene DOID:0080539 PEHO syndrome ISO RGD:1315114 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PEHO syndrome PMID:25741868|PMID:28335020|PMID:28492532|PMID:31048081 12190077 ZNHIT3 zinc finger HIT-type containing 3 gene DOID:12849 autistic disorder ISO RGD:1315114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12190077 ZNHIT3 zinc finger HIT-type containing 3 gene DOID:5419 schizophrenia ISO RGD:1315114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12190077 ZNHIT3 zinc finger HIT-type containing 3 gene DOID:630 genetic disease ISO RGD:1315114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190077 ZNHIT3 zinc finger HIT-type containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12190086 LOC102152916 zinc finger protein 671 gene DOID:630 genetic disease ISO RGD:1602675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190112 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:0050434 Andersen-Tawil syndrome ISO RGD:1352992 D RGD:7240710 20180130 OMIM 12190112 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:0050434 Andersen-Tawil syndrome ISO RGD:1352992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Andersen Syndrome | ClinVar Annotator: match by term: Andersen Tawil syndrome | ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features PMID:11371347|PMID:11841151|PMID:11861044|PMID:12045162|PMID:12086641|PMID:12148092|PMID:12163457|PMID:12689820|PMID:12796536|PMID:12909315|PMID:14522976|PMID:15028050|PMID:15276028|PMID:15757667|PMID:15761194|PMID:15831539|PMID:15851159|PMID:15852530|PMID:15911703|PMID:15922306|PMID:16217063|PMID:16419128|PMID:16533896|PMID:16541386|PMID:16571646|PMID:16818210|PMID:16834334|PMID:17074642|PMID:17119796|PMID:17210839|PMID:17211524|PMID:17221872|PMID:17324964|PMID:17341397|PMID:17399642|PMID:17399643|PMID:17568571|PMID:17581963|PMID:17582433|PMID:17619200|PMID:17640933|PMID:17655675|PMID:18313615|PMID:18452873|PMID:18554214|PMID:19041665|PMID:19111761|PMID:19201608|PMID:19570891|PMID:19931173|PMID:20111058|PMID:20382953|PMID:20647529|PMID:20713726|PMID:21148745|PMID:21493816|PMID:21875779|PMID:22002906|PMID:22166941|PMID:22186697|PMID:22286118|PMID:22308236|PMID:22371365|PMID:22581653|PMID:22589293|PMID:22806368|PMID:22944906|PMID:22982078|PMID:23516313|PMID:23564459|PMID:23595086|PMID:23631430|PMID:23644778|PMID:23861362|PMID:23867365|PMID:24025405|PMID:24033266|PMID:24047492|PMID:24211314|PMID:24383070|PMID:24388587|PMID:24395924|PMID:24561538|PMID:24721648|PMID:24861851|PMID:25223803|PMID:25284084|PMID:25351510|PMID:25410959|PMID:25415519|PMID:25637381|PMID:25741868|PMID:25847018|PMID:26109178|PMID:26230511|PMID:26304528|PMID:26322597|PMID:26467025|PMID:26927354|PMID:26937109|PMID:27145478|PMID:27456059|PMID:27789106|PMID:27920829|PMID:28003625|PMID:28024840|PMID:28336205|PMID:28341588|PMID:28491792|PMID:28492532|PMID:28501311|PMID:28589536|PMID:28600387|PMID:28606196|PMID:28711067|PMID:28798025|PMID:29017447|PMID:29247119|PMID:29606556|PMID:29874177|PMID:29915097|PMID:30298493|PMID:30516834|PMID:30533530|PMID:30615648|PMID:30847666|PMID:30975432|PMID:31068157|PMID:31483760|PMID:31521807|PMID:31534214|PMID:31567646|PMID:31737537|PMID:31890843|PMID:32145446|PMID:32184906|PMID:32299589|PMID:32499698|PMID:32969603|PMID:33057326|PMID:34127479|PMID:34426522|PMID:34516623|PMID:8078584 12190112 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:0050451 Brugada syndrome ISO RGD:1352992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 12190112 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:0050650 familial atrial fibrillation ISO RGD:1352992 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation PMID:25741868|PMID:28492532 12190112 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:0050793 short QT syndrome ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short QT syndrome PMID:15761194|PMID:17640933|PMID:22308236|PMID:22371365|PMID:22581653|PMID:25741868|PMID:28492532|PMID:8078584 12190112 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:0060224 atrial fibrillation ISO RGD:1352992 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:15922306|PMID:17581963|PMID:19041665|PMID:19111761|PMID:22581653|PMID:23631430|PMID:25223803|PMID:25410959|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28711067|PMID:29247119|PMID:31521807|PMID:34426522|PMID:34516623 12190112 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:11371347|PMID:11841151|PMID:11861044|PMID:12086641|PMID:12148092|PMID:12163457|PMID:12796536|PMID:14522976|PMID:15757667|PMID:15851159|PMID:15911703|PMID:16217063|PMID:16419128|PMID:16818210|PMID:16834334|PMID:17211524|PMID:17221872|PMID:17655675|PMID:20713726|PMID:22002906|PMID:22581653|PMID:22589293|PMID:22806368|PMID:23516313|PMID:23631430|PMID:23644778|PMID:23867365|PMID:24025405|PMID:24721648|PMID:24861851|PMID:25741868|PMID:26109178|PMID:26467025|PMID:28003625|PMID:28492532|PMID:30298493|PMID:31068157 12190112 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:1029 familial periodic paralysis ISO RGD:1352992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial periodic paralysis PMID:17324964|PMID:19201608|PMID:22581653 12190112 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1352992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 12190112 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:2843 long QT syndrome ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:11371347|PMID:11841151|PMID:11861044|PMID:12045162|PMID:12086641|PMID:12148092|PMID:12163457|PMID:12689820|PMID:12796536|PMID:12909315|PMID:14522976|PMID:15028050|PMID:15276028|PMID:15757667|PMID:15831539|PMID:15851159|PMID:15852530|PMID:15911703|PMID:16217063|PMID:16419128|PMID:16541386|PMID:16571646|PMID:16818210|PMID:16834334|PMID:17074642|PMID:17119796|PMID:17210839|PMID:17211524|PMID:17221872|PMID:17324964|PMID:17341397|PMID:17399642|PMID:17399643|PMID:17568571|PMID:17582433|PMID:17655675|PMID:18452873|PMID:18554214|PMID:18690034|PMID:19931173|PMID:20111058|PMID:20382953|PMID:20647529|PMID:20713726|PMID:21148745|PMID:21640645|PMID:21875779|PMID:22002906|PMID:22186697|PMID:22286118|PMID:22581653|PMID:22589293|PMID:22806368|PMID:22944906|PMID:23516313|PMID:23595086|PMID:23631430|PMID:23644778|PMID:23867365|PMID:24025405|PMID:24211314|PMID:24561538|PMID:24721648|PMID:24861851|PMID:25284084|PMID:25415519|PMID:25637381|PMID:25741868|PMID:26109178|PMID:26467025|PMID:26927354|PMID:26937109|PMID:28003625|PMID:28024840|PMID:28492532|PMID:28501311|PMID:28600387|PMID:30298493|PMID:30516834|PMID:30533530|PMID:31068157|PMID:31737537|PMID:33057326|PMID:34127479 12190112 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:37 skin disease ISO RGD:1352992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12190112 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1352992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 12190112 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:5844 myocardial infarction treatment ISO RGD:61968 D RGD:9068941 20200609 RGD PMID:23647964|REF_RGD_ID:7247426 12190112 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:630 genetic disease ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11371347|PMID:12163457|PMID:12796536|PMID:12909315|PMID:15852530|PMID:16217063|PMID:17074642|PMID:17119796|PMID:17221872|PMID:17399642|PMID:17568571|PMID:18554214|PMID:20647529|PMID:22581653|PMID:22589293|PMID:23631430|PMID:24211314|PMID:25415519|PMID:25741868|PMID:26230511|PMID:26467025|PMID:26937109|PMID:28024840|PMID:28492532|PMID:28501311 12190112 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9000006 Supraventricular Tachycardia ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:16217063|PMID:16818210|PMID:17341397|PMID:22581653|PMID:22589293|PMID:22806368|PMID:23631430|PMID:23644778|PMID:24861851|PMID:25741868|PMID:26304528|PMID:28336205|PMID:28492532 12190112 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:17211524|PMID:17324964|PMID:17341397|PMID:22581653|PMID:22589293|PMID:24383070|PMID:25741868|PMID:25847018|PMID:27145478|PMID:28492532|PMID:31068157|PMID:31483760|PMID:31567646|PMID:31890843|PMID:32299589|PMID:32499698 12190112 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1352992 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:25741868|PMID:27920829|PMID:28492532|PMID:30615648|PMID:30975432|PMID:31737537|PMID:32184906 12190112 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9001868 Short QT Syndrome 3 ISO RGD:1352992 D RGD:7240710 20180130 OMIM 12190112 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9001868 Short QT Syndrome 3 ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 3 PMID:11371347|PMID:11841151|PMID:11861044|PMID:12086641|PMID:12148092|PMID:12163457|PMID:12796536|PMID:14522976|PMID:15757667|PMID:15761194|PMID:15851159|PMID:15911703|PMID:15922306|PMID:16217063|PMID:16419128|PMID:16818210|PMID:16834334|PMID:17211524|PMID:17221872|PMID:17341397|PMID:17581963|PMID:17640933|PMID:17655675|PMID:19041665|PMID:19111761|PMID:20713726|PMID:21875779|PMID:22002906|PMID:22308236|PMID:22371365|PMID:22581653|PMID:22589293|PMID:22806368|PMID:22944906|PMID:23516313|PMID:23631430|PMID:23644778|PMID:23867365|PMID:24025405|PMID:24033266|PMID:24388587|PMID:24721648|PMID:24861851|PMID:25223803|PMID:25351510|PMID:25410959|PMID:25637381|PMID:25741868|PMID:25847018|PMID:26109178|PMID:26304528|PMID:26467025|PMID:27456059|PMID:27920829|PMID:28003625|PMID:28336205|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28711067|PMID:28798025|PMID:29247119|PMID:29874177|PMID:29915097|PMID:30298493|PMID:30615648|PMID:30847666|PMID:30975432|PMID:31068157|PMID:31483760|PMID:31521807|PMID:31534214|PMID:31567646|PMID:31737537|PMID:31890843|PMID:32145446|PMID:32184906|PMID:32299589|PMID:32499698|PMID:34426522|PMID:34516623|PMID:8078584 12190112 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9002848 Familial Atrial Fibrillation 9 ISO RGD:1352992 D RGD:7240710 20180130 OMIM 12190112 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9002848 Familial Atrial Fibrillation 9 ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 9 PMID:11371347|PMID:11841151|PMID:11861044|PMID:12086641|PMID:12148092|PMID:12163457|PMID:12796536|PMID:14522976|PMID:15757667|PMID:15851159|PMID:15911703|PMID:15922306|PMID:16217063|PMID:16419128|PMID:16834334|PMID:17211524|PMID:17221872|PMID:17581963|PMID:17655675|PMID:19041665|PMID:19111761|PMID:20713726|PMID:22002906|PMID:22581653|PMID:22589293|PMID:22806368|PMID:23631430|PMID:23644778|PMID:23867365|PMID:24025405|PMID:24033266|PMID:24388587|PMID:24721648|PMID:25223803|PMID:25351510|PMID:25410959|PMID:25637381|PMID:25741868|PMID:26109178|PMID:26467025|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28711067|PMID:29247119|PMID:29874177|PMID:30298493|PMID:30847666|PMID:31068157|PMID:31521807|PMID:31534214|PMID:32145446|PMID:34426522|PMID:34516623 12190112 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:11371347|PMID:11841151|PMID:11861044|PMID:12086641|PMID:12148092|PMID:12163457|PMID:12796536|PMID:14522976|PMID:15757667|PMID:15851159|PMID:15911703|PMID:16217063|PMID:16419128|PMID:16818210|PMID:16834334|PMID:17211524|PMID:17221872|PMID:17655675|PMID:20713726|PMID:22002906|PMID:22581653|PMID:22589293|PMID:22806368|PMID:23516313|PMID:23631430|PMID:23644778|PMID:23867365|PMID:24025405|PMID:24721648|PMID:24861851|PMID:25741868|PMID:26109178|PMID:26467025|PMID:28003625|PMID:28492532|PMID:30298493|PMID:31068157 12190112 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:15851159|PMID:15911703|PMID:16217063|PMID:16818210|PMID:17341397|PMID:19843922|PMID:22581653|PMID:22589293|PMID:22806368|PMID:23631430|PMID:23644778|PMID:24861851|PMID:25741868|PMID:26304528|PMID:28336205|PMID:28492532 12190112 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9007 sudden infant death syndrome ISO RGD:1352992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868|PMID:28341588|PMID:28492532|PMID:29874177 12190112 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:1352992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12190117 COL4A2 collagen type IV alpha 2 chain gene DOID:0060263 porencephaly ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY PMID:25741868|PMID:26467025|PMID:28492532 12190117 COL4A2 collagen type IV alpha 2 chain gene DOID:0090125 brain small vessel disease 1 ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GOULD SYNDROME 1 PMID:25741868|PMID:26467025|PMID:28492532 12190117 COL4A2 collagen type IV alpha 2 chain gene DOID:0112314 brain small vessel disease 2 ISO RGD:1317652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Porencephaly 2 PMID:16199547|PMID:22209246|PMID:22209247|PMID:22333902|PMID:22914737|PMID:24001601|PMID:24390199|PMID:24646874|PMID:25326635|PMID:25653287|PMID:25741868|PMID:27794444|PMID:28492532|PMID:30315939|PMID:30413629|PMID:30859180|PMID:31069529|PMID:32732225|PMID:33527515|PMID:33912663|PMID:34531397 12190117 COL4A2 collagen type IV alpha 2 chain gene DOID:0112314 brain small vessel disease 2 susceptibility ISO RGD:1317652 D RGD:7240710 20230517 OMIM 12190117 COL4A2 collagen type IV alpha 2 chain gene DOID:1184 nephrotic syndrome ISO RGD:1317652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1281619 12190117 COL4A2 collagen type IV alpha 2 chain gene DOID:1826 epilepsy ISO RGD:1317652 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12190117 COL4A2 collagen type IV alpha 2 chain gene DOID:1936 atherosclerosis susceptibility ISO RGD:1317652 D RGD:9068941 20200609 RGD DNA:SNP: :rs72657934(human) PMID:28642624|REF_RGD_ID:13450936 12190117 COL4A2 collagen type IV alpha 2 chain gene DOID:1969 cerebral palsy ISO RGD:1317652 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:22209246|PMID:22209247|PMID:22333902|PMID:24001601|PMID:25741868|PMID:27794444|PMID:28492532|PMID:33912663|PMID:34531397 12190117 COL4A2 collagen type IV alpha 2 chain gene DOID:2222 factor X deficiency ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12190117 COL4A2 collagen type IV alpha 2 chain gene DOID:2661 myoepithelioma ISO RGD:1317652 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12190117 COL4A2 collagen type IV alpha 2 chain gene DOID:5409 lung small cell carcinoma ISO RGD:1317652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 12190117 COL4A2 collagen type IV alpha 2 chain gene DOID:630 genetic disease ISO RGD:1317652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:22333902|PMID:25741868|PMID:28492532|PMID:30315939|PMID:30413629 12190117 COL4A2 collagen type IV alpha 2 chain gene DOID:865 vasculitis ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vasculitis PMID:25741868 12190117 COL4A2 collagen type IV alpha 2 chain gene DOID:8725 vascular dementia ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:33268848 12190117 COL4A2 collagen type IV alpha 2 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12190117 COL4A2 collagen type IV alpha 2 chain gene DOID:9001585 Intraventricular Hemorrhage ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intraventricular hemorrhage PMID:25741868|PMID:33527515 12190117 COL4A2 collagen type IV alpha 2 chain gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intracerebral hemorrhage PMID:22209247|PMID:22914737|PMID:24390199|PMID:24646874|PMID:25653287|PMID:25741868|PMID:28492532 12190117 COL4A2 collagen type IV alpha 2 chain gene DOID:9002676 Cerebral Hemorrhage susceptibility ISO RGD:1317652 D RGD:7240710 20230517 OMIM 12190117 COL4A2 collagen type IV alpha 2 chain gene DOID:9002788 Lacunar Strokes susceptibility ISO RGD:1317652 D RGD:9068941 20200609 RGD DNA:SNPs:: PMID:28954878|REF_RGD_ID:13450933 12190117 COL4A2 collagen type IV alpha 2 chain gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12190117 COL4A2 collagen type IV alpha 2 chain gene DOID:9003529 Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps PMID:25741868|PMID:26467025|PMID:28492532 12190117 COL4A2 collagen type IV alpha 2 chain gene DOID:9005077 Joint Instability ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:25741868 12190117 COL4A2 collagen type IV alpha 2 chain gene DOID:9007096 Stroke ISO RGD:1317652 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12190168 DMXL1 Dmx like 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1317027 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12190168 DMXL1 Dmx like 1 gene DOID:3070 high grade glioma ISO RGD:1317027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16865689 12190168 DMXL1 Dmx like 1 gene DOID:630 genetic disease ISO RGD:1317027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190168 DMXL1 Dmx like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12190168 DMXL1 Dmx like 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317027 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12190229 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733190 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12190229 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:10140 dry eye syndrome ISO RGD:733191 D RGD:9068941 20200609 RGD protein:increased expression:corneal epithelium (mouse) PMID:22355243|REF_RGD_ID:6218964 12190229 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:11394 adult respiratory distress syndrome ISO RGD:628878 D RGD:9068941 20200609 RGD PMID:12235111|REF_RGD_ID:5688755 12190229 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:733190 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 12190229 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:12140 Chagas disease ISO RGD:733190 D RGD:9068941 20200609 RGD PMID:21801456|REF_RGD_ID:6218957 12190229 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:1289 neurodegenerative disease ISO RGD:733191 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus (mouse) PMID:18601936|REF_RGD_ID:6218995 12190229 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:14330 Parkinson's disease ISO RGD:628878 D RGD:9068941 20200609 RGD protein:decreased expression:striatum (rat) PMID:22186119|REF_RGD_ID:5686884 12190229 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:733190 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19350847|REF_RGD_ID:5688779 12190229 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:733190 D RGD:9068941 20200609 RGD protein:increased expression:bronchial mucosa (human) PMID:22140545|REF_RGD_ID:5688781 12190229 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:3525 middle cerebral artery infarction ISO RGD:628878 D RGD:9068941 20200609 RGD rat gene in mouse model PMID:17473852|REF_RGD_ID:5688754 12190229 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:3525 middle cerebral artery infarction ISO RGD:733191 D RGD:9068941 20200609 RGD PMID:21709150|REF_RGD_ID:6218961 12190229 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:630 genetic disease ISO RGD:733190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190229 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:7148 rheumatoid arthritis ISO RGD:733190 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood lymphocyte (human) PMID:22047640|REF_RGD_ID:5688784 12190229 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:8577 ulcerative colitis ISO RGD:733190 D RGD:9068941 20200609 RGD protein:increased expression:colon mucosa, epithelium (human) PMID:22297444|REF_RGD_ID:5688753 12190229 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:9000998 Brain Injuries ISO RGD:628878 D RGD:9068941 20200609 RGD protein:increased expression:cerebral white matter (rat) PMID:22067617|REF_RGD_ID:5688785 12190229 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:9001553 Spinal Cord Compression ISO RGD:733191 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (mouse) PMID:21787762|REF_RGD_ID:6218959 12190229 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12190229 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:9004649 Heat Stroke ISO RGD:628878 D RGD:9068941 20200609 RGD PMID:22245947|REF_RGD_ID:5686871 12190229 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733190 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12190229 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:916 liver benign neoplasm ISO RGD:628878 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:22213170|REF_RGD_ID:5686872 12190229 HSPA4 heat shock protein family A (Hsp70) member 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733190 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:22349026|REF_RGD_ID:6218966 12190257 PTCD3 pentatricopeptide repeat domain 3 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1605991 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 12190257 PTCD3 pentatricopeptide repeat domain 3 gene DOID:0112137 combined oxidative phosphorylation deficiency 51 ISO RGD:1605991 D RGD:7240710 20201111 OMIM 12190257 PTCD3 pentatricopeptide repeat domain 3 gene DOID:0112137 combined oxidative phosphorylation deficiency 51 ISO RGD:1605991 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 51 PMID:25741868|PMID:30607703 12190257 PTCD3 pentatricopeptide repeat domain 3 gene DOID:630 genetic disease ISO RGD:1605991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190257 PTCD3 pentatricopeptide repeat domain 3 gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1605991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 12190296 FDXR ferredoxin reductase gene DOID:630 genetic disease ISO RGD:734233 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28965846|PMID:29040572|PMID:30250212|PMID:6766943 12190296 FDXR ferredoxin reductase gene DOID:9000729 OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME ISO RGD:734233 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome PMID:25741868|PMID:30250212 12190296 FDXR ferredoxin reductase gene DOID:9003451 Auditory Neuropathy and Optic Atrophy ISO RGD:734233 D RGD:7240710 20190315 OMIM 12190296 FDXR ferredoxin reductase gene DOID:9003451 Auditory Neuropathy and Optic Atrophy ISO RGD:734233 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY PMID:24033266|PMID:25741868|PMID:28965846|PMID:29040572|PMID:30250212|PMID:6766943 12190312 CABP1 calcium binding protein 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:620385 D RGD:9068941 20200609 RGD protein:altered expression:brain PMID:12941472|REF_RGD_ID:14399955 12190312 CABP1 calcium binding protein 1 gene DOID:5419 schizophrenia ISO RGD:731282 D RGD:9068941 20200609 RGD protein:altered expression:brain: PMID:17719205|REF_RGD_ID:14399958 12190312 CABP1 calcium binding protein 1 gene DOID:630 genetic disease ISO RGD:731282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190312 CABP1 calcium binding protein 1 gene DOID:9002607 Serotonin Syndrome ISO RGD:620385 D RGD:9068941 20200609 RGD protein:altered expression:postsynaptic density PMID:19224364|REF_RGD_ID:14399959 12190312 CABP1 calcium binding protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:620385 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:21138988|REF_RGD_ID:7241599 12190327 SLC39A12 solute carrier family 39 member 12 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1319582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12190327 SLC39A12 solute carrier family 39 member 12 gene DOID:1909 melanoma ISO RGD:1319582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12190327 SLC39A12 solute carrier family 39 member 12 gene DOID:630 genetic disease ISO RGD:1319582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190327 SLC39A12 solute carrier family 39 member 12 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1309305 D RGD:9068941 20200609 RGD PMID:26258299|REF_RGD_ID:10401832 12190327 SLC39A12 solute carrier family 39 member 12 gene DOID:9006102 Right Ventricular Hypertrophy severity ISO XCO:0000010 D RGD:9068941 20201211 RGD PMID:26258299|REF_RGD_ID:10401832 12190327 SLC39A12 solute carrier family 39 member 12 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:1309305 D RGD:9068941 20200609 RGD PMID:26258299|REF_RGD_ID:10401832 12190327 SLC39A12 solute carrier family 39 member 12 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced severity ISO XCO:0000010 D RGD:9068941 20201211 RGD PMID:26258299|REF_RGD_ID:10401832 12190327 SLC39A12 solute carrier family 39 member 12 gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1319582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 12190353 FBXL5 F-box and leucine rich repeat protein 5 gene DOID:0050777 Joubert syndrome ISO RGD:1315757 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12190353 FBXL5 F-box and leucine rich repeat protein 5 gene DOID:10283 prostate cancer ISO RGD:1315757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12190353 FBXL5 F-box and leucine rich repeat protein 5 gene DOID:630 genetic disease ISO RGD:1315757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190371 ZG16 zymogen granule protein 16 gene DOID:0060041 autism spectrum disorder ISO RGD:732666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12190371 ZG16 zymogen granule protein 16 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:732666 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12190371 ZG16 zymogen granule protein 16 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:732666 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12190371 ZG16 zymogen granule protein 16 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:732666 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12190371 ZG16 zymogen granule protein 16 gene DOID:12849 autistic disorder ISO RGD:732666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12190371 ZG16 zymogen granule protein 16 gene DOID:1882 atrial heart septal defect ISO RGD:732666 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12190371 ZG16 zymogen granule protein 16 gene DOID:5419 schizophrenia ISO RGD:732666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12190371 ZG16 zymogen granule protein 16 gene DOID:630 genetic disease ISO RGD:732666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190371 ZG16 zymogen granule protein 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12190371 ZG16 zymogen granule protein 16 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:732666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12190379 WDR90 WD repeat domain 90 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1604213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12190379 WDR90 WD repeat domain 90 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604213 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12190379 WDR90 WD repeat domain 90 gene DOID:1826 epilepsy ISO RGD:1604213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12190379 WDR90 WD repeat domain 90 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12190379 WDR90 WD repeat domain 90 gene DOID:630 genetic disease ISO RGD:1604213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190432 SLC30A7 solute carrier family 30 member 7 gene DOID:1826 epilepsy ISO RGD:1317319 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12190432 SLC30A7 solute carrier family 30 member 7 gene DOID:630 genetic disease ISO RGD:1317319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12190432 SLC30A7 solute carrier family 30 member 7 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1317319 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17068819 12190432 SLC30A7 solute carrier family 30 member 7 gene DOID:9008919 Neurodevelopmental Disorder with Short Stature, Prominent Forehead, and Feeding Difficulties ISO RGD:1317319 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties PMID:25741868|PMID:35482014 12190432 SLC30A7 solute carrier family 30 member 7 gene DOID:9269 maple syrup urine disease ISO RGD:1317319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 12190447 LAMA3 laminin subunit alpha 3 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1345784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 12190447 LAMA3 laminin subunit alpha 3 gene DOID:0060737 junctional epidermolysis bullosa Herlitz type ISO RGD:1345784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, GENERALIZED SEVERE | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz PMID:10366601|PMID:11810295|PMID:12915477|PMID:12943669|PMID:15373767|PMID:16199547|PMID:16473856|PMID:16971478|PMID:17362460|PMID:17576681|PMID:22434185|PMID:23869449|PMID:24033266|PMID:25363238|PMID:25525159|PMID:25741868|PMID:26635394|PMID:27375110|PMID:27827380|PMID:28087116|PMID:28492532|PMID:33274474|PMID:7633458|PMID:8530087|PMID:8618022|PMID:8824879|PMID:8983017|PMID:9536098 12190447 LAMA3 laminin subunit alpha 3 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:1345784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:10366601|PMID:11810295|PMID:12915477|PMID:16473856|PMID:17362460|PMID:22434185|PMID:23869449|PMID:24033266|PMID:25363238|PMID:25741868|PMID:27827380|PMID:28087116|PMID:28492532 12190447 LAMA3 laminin subunit alpha 3 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1345784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 12190447 LAMA3 laminin subunit alpha 3 gene DOID:1059 intellectual disability ISO RGD:1345784 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12190447 LAMA3 laminin subunit alpha 3 gene DOID:3209 junctional epidermolysis bullosa IAGP D RGD:12801476 20211027 OMIA Epidermolysis bullosa, junctionalis, LAMA3-related PMID:34644840|PMID:9349347|PMID:15737193|PMID:34250689|PMID:34457315 12190447 LAMA3 laminin subunit alpha 3 gene DOID:3209 junctional epidermolysis bullosa ISO RGD:1345784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa PMID:10366601|PMID:11810295|PMID:12915477|PMID:16473856|PMID:17362460|PMID:17916201|PMID:22434185|PMID:23869449|PMID:25741868|PMID:27827380|PMID:28087116|PMID:28492532 12190447 LAMA3 laminin subunit alpha 3 gene DOID:4123 nail disease ISO RGD:1345784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12915477 12190447 LAMA3 laminin subunit alpha 3 gene DOID:5409 lung small cell carcinoma ISO RGD:1345784 D RGD:9068941 20200609 RGD DNA:hyper-methylation:promoter: PMID:12855645|REF_RGD_ID:13793369 12190447 LAMA3 laminin subunit alpha 3 gene DOID:630 genetic disease ISO RGD:1345784 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12190447 LAMA3 laminin subunit alpha 3 gene DOID:8549 chronic ulcer of skin ISO RGD:1345784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12915477 12190447 LAMA3 laminin subunit alpha 3 gene DOID:9001145 Junctional Epidermolysis Bullosa 1B, Severe ISO RGD:1345784 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE PMID:10366601|PMID:11810295|PMID:12915477|PMID:16473856|PMID:17362460|PMID:22434185|PMID:23869449|PMID:25525159|PMID:27827380|PMID:28087116|PMID:28492532|PMID:33274474 12190447 LAMA3 laminin subunit alpha 3 gene DOID:9001245 Junctional Epidermolysis Bullosa 2A, Intermediate ISO RGD:1345784 D RGD:7240710 20220608 OMIM 12190447 LAMA3 laminin subunit alpha 3 gene DOID:9001245 Junctional Epidermolysis Bullosa 2A, Intermediate ISO RGD:1345784 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 2A, intermediate PMID:11810295|PMID:25741868 12190447 LAMA3 laminin subunit alpha 3 gene DOID:9001600 Wounds and Injuries ISO RGD:1345784 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15541073 12190447 LAMA3 laminin subunit alpha 3 gene DOID:9005030 Junctional Epidermolysis Bullosa 2B, Severe ISO RGD:1345784 D RGD:7240710 20220608 OMIM 12190447 LAMA3 laminin subunit alpha 3 gene DOID:9005030 Junctional Epidermolysis Bullosa 2B, Severe ISO RGD:1345784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 2B, severe PMID:10366601|PMID:11810295|PMID:12915477|PMID:16473856|PMID:17362460|PMID:22434185|PMID:23869449|PMID:25741868|PMID:27827380|PMID:28087116|PMID:28492532|PMID:7633458|PMID:8530087|PMID:8586427|PMID:8618022|PMID:8824879|PMID:8983017 12190447 LAMA3 laminin subunit alpha 3 gene DOID:9005848 WEISS-KRUSZKA SYNDROME ISO RGD:1345784 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Weiss-kruszka syndrome PMID:25741868|PMID:28492532 12190447 LAMA3 laminin subunit alpha 3 gene DOID:9007903 Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous ISO RGD:1345784 D RGD:7240710 20180130 OMIM 12190447 LAMA3 laminin subunit alpha 3 gene DOID:9007903 Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous ISO RGD:1345784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laryngo-onycho-cutaneous syndrome PMID:10366601|PMID:11810295|PMID:12915477|PMID:16473856|PMID:17362460|PMID:17576681|PMID:22434185|PMID:23869449|PMID:24033266|PMID:25363238|PMID:25741868|PMID:26635394|PMID:27827380|PMID:28087116|PMID:28492532|PMID:35314946|PMID:7633458|PMID:8530087|PMID:8618022|PMID:8824879|PMID:8983017|PMID:9536098 12190529 ABCB5 ATP binding cassette subfamily B member 5 gene DOID:1909 melanoma ISO RGD:1351002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15899824 12190529 ABCB5 ATP binding cassette subfamily B member 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12190529 ABCB5 ATP binding cassette subfamily B member 5 gene DOID:630 genetic disease ISO RGD:1351002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190529 ABCB5 ATP binding cassette subfamily B member 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12190553 TMEM178B transmembrane protein 178B gene DOID:0080690 RASopathy ISO RGD:6767208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12190553 TMEM178B transmembrane protein 178B gene DOID:630 genetic disease ISO RGD:6767208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190561 PHTF2 putative homeodomain transcription factor 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12190561 PHTF2 putative homeodomain transcription factor 2 gene DOID:630 genetic disease ISO RGD:1321591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190561 PHTF2 putative homeodomain transcription factor 2 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1321591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12190594 CCDC40 coiled-coil domain containing 40 gene DOID:0050144 Kartagener syndrome ISO RGD:1605992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:16199547|PMID:21131974|PMID:22693285|PMID:23255504|PMID:25741868|PMID:28492532|PMID:31213628|PMID:31443223|PMID:31650533|PMID:31772028|PMID:31879361 12190594 CCDC40 coiled-coil domain containing 40 gene DOID:0050545 visceral heterotaxy ISO RGD:1605992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Situs ambiguus 12190594 CCDC40 coiled-coil domain containing 40 gene DOID:0060041 autism spectrum disorder ISO RGD:1605992 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12190594 CCDC40 coiled-coil domain containing 40 gene DOID:0110623 primary ciliary dyskinesia 15 ISO RGD:1605992 D RGD:7240710 20180130 OMIM 12190594 CCDC40 coiled-coil domain containing 40 gene DOID:0110623 primary ciliary dyskinesia 15 ISO RGD:1605992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 15 PMID:16199547|PMID:17576681|PMID:21131974|PMID:22499950|PMID:22693285|PMID:23255504|PMID:23261302|PMID:23891469|PMID:24033266|PMID:25326637|PMID:25619595|PMID:25741868|PMID:25877373|PMID:26228299|PMID:28492532|PMID:30067075|PMID:31213628|PMID:31443223|PMID:31507630|PMID:31589614|PMID:31650533|PMID:31772028|PMID:31879361|PMID:31980526|PMID:9536098 12190594 CCDC40 coiled-coil domain containing 40 gene DOID:12336 male infertility ISO RGD:1605992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility PMID:24033266|PMID:25741868|PMID:28492532 12190594 CCDC40 coiled-coil domain containing 40 gene DOID:2752 glycogen storage disease II ISO RGD:1605992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:18414213|PMID:23757202|PMID:24033266|PMID:25741868|PMID:28492532 12190594 CCDC40 coiled-coil domain containing 40 gene DOID:630 genetic disease ISO RGD:1605992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12190594 CCDC40 coiled-coil domain containing 40 gene DOID:758 situs inversus ISO RGD:1605992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 12190594 CCDC40 coiled-coil domain containing 40 gene DOID:9001828 Cardiac Form of Generalized Glycogenosis ISO RGD:1605992 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa PMID:18414213|PMID:23757202|PMID:24033266|PMID:25741868|PMID:28492532 12190594 CCDC40 coiled-coil domain containing 40 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1605992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 12190594 CCDC40 coiled-coil domain containing 40 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:18414213|PMID:21131974|PMID:22499950|PMID:22693285|PMID:23255504|PMID:23261302|PMID:23757202|PMID:23891469|PMID:24033266|PMID:24498942|PMID:24518672|PMID:25326637|PMID:25619595|PMID:25741868|PMID:25877373|PMID:26228299|PMID:28492532|PMID:30067075|PMID:31213628|PMID:31443223|PMID:31507630|PMID:31589614|PMID:31650533|PMID:31765523|PMID:31772028|PMID:31879361|PMID:31980526|PMID:32502479|PMID:9536098 12190618 MBLAC2 metallo-beta-lactamase domain containing 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601715 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12190618 MBLAC2 metallo-beta-lactamase domain containing 2 gene DOID:630 genetic disease ISO RGD:1601715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190618 MBLAC2 metallo-beta-lactamase domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12190618 MBLAC2 metallo-beta-lactamase domain containing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601715 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12190624 BACE1 beta-secretase 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12190624 BACE1 beta-secretase 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12190624 BACE1 beta-secretase 1 gene DOID:0080690 RASopathy ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12190624 BACE1 beta-secretase 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12190624 BACE1 beta-secretase 1 gene DOID:0111123 nephronophthisis 15 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 12190624 BACE1 beta-secretase 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12190624 BACE1 beta-secretase 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12190624 BACE1 beta-secretase 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12190624 BACE1 beta-secretase 1 gene DOID:1059 intellectual disability ISO RGD:1606566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12190624 BACE1 beta-secretase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1606566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16407166 12190624 BACE1 beta-secretase 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1606566 D RGD:9068941 20200609 RGD PMID:12824768|REF_RGD_ID:1358439 12190624 BACE1 beta-secretase 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:1332039 D RGD:9068941 20200609 RGD PMID:29038004|REF_RGD_ID:13782077 12190624 BACE1 beta-secretase 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:2191 D RGD:9068941 20200609 RGD PMID:28763060|REF_RGD_ID:13782083 12190624 BACE1 beta-secretase 1 gene DOID:1307 dementia treatment ISO RGD:2191 D RGD:9068941 20200609 RGD PMID:28683457|REF_RGD_ID:13782142 12190624 BACE1 beta-secretase 1 gene DOID:224 transient cerebral ischemia ISO RGD:2191 D RGD:9068941 20200609 RGD protein:increased activity,increased expression:brain cortex PMID:15120577|REF_RGD_ID:13782170 12190624 BACE1 beta-secretase 1 gene DOID:2491 sensory peripheral neuropathy ISO RGD:2191 D RGD:9068941 20200609 RGD mRNA:decreased expression:dorsal root ganglion PMID:28012171|REF_RGD_ID:13782150 12190624 BACE1 beta-secretase 1 gene DOID:5419 schizophrenia ISO RGD:1332039 D RGD:9068941 20220825 MouseDO OMIM:181500 12190624 BACE1 beta-secretase 1 gene DOID:630 genetic disease ISO RGD:1606566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190624 BACE1 beta-secretase 1 gene DOID:9001585 Intraventricular Hemorrhage ISO RGD:2191 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:30028260|REF_RGD_ID:13782136 12190624 BACE1 beta-secretase 1 gene DOID:9002211 Hyperalgesia ISO RGD:2191 D RGD:9068941 20200609 RGD PMID:28012171|REF_RGD_ID:13782150 12190624 BACE1 beta-secretase 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:2191 D RGD:9068941 20200609 RGD associated with Sleep Deprivation PMID:28455102|REF_RGD_ID:13782059 12190624 BACE1 beta-secretase 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12190624 BACE1 beta-secretase 1 gene DOID:9007661 Dwarfism ISO RGD:1606566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12190624 BACE1 beta-secretase 1 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:2191 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:28683457|REF_RGD_ID:13782142 12190624 BACE1 beta-secretase 1 gene DOID:9007980 Sleep Deprivation ISO RGD:2191 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:28455102|REF_RGD_ID:13782059 12190624 BACE1 beta-secretase 1 gene DOID:9009105 HIV Encephalitis ISO RGD:1606566 D RGD:9068941 20200609 RGD PMID:29632166|REF_RGD_ID:13782045 12190635 TAF4B TATA-box binding protein associated factor 4b gene DOID:0070182 spermatogenic failure 13 ISO RGD:1319196 D RGD:7240710 20180130 OMIM 12190635 TAF4B TATA-box binding protein associated factor 4b gene DOID:0070182 spermatogenic failure 13 ISO RGD:1319196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 13 PMID:24431330 12190635 TAF4B TATA-box binding protein associated factor 4b gene DOID:1059 intellectual disability ISO RGD:1319196 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12190635 TAF4B TATA-box binding protein associated factor 4b gene DOID:630 genetic disease ISO RGD:1319196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190654 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1601772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12190654 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1601772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs 12190654 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:1601772 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12190654 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:0111193 facioscapulohumeral muscular dystrophy 2 ISO RGD:1601772 D RGD:7240710 20180130 OMIM 12190654 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:0111193 facioscapulohumeral muscular dystrophy 2 ISO RGD:1601772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FSHD2, DIGENIC | ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 | ClinVar Annotator: match by term: Weakness of facial musculature PMID:16199547|PMID:17576681|PMID:23143600|PMID:24075187|PMID:24755953|PMID:25214167|PMID:25256356|PMID:25370034|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26842768|PMID:27061275|PMID:28067909|PMID:28067911|PMID:28492532|PMID:29980640|PMID:30327220|PMID:30546343|PMID:31243061|PMID:31312724|PMID:31600781|PMID:32528171|PMID:34008892|PMID:8723126|PMID:9536098 12190654 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1601772 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12190654 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:11383 cryptorchidism ISO RGD:1601772 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cryptorchidism PMID:25741868|PMID:28067909 12190654 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1601772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12190654 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:630 genetic disease ISO RGD:1601772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23143600|PMID:25256356|PMID:25370034|PMID:25741868|PMID:26467025|PMID:27061275|PMID:28492532 12190654 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9004042 Olfaction Disorders ISO RGD:1601772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anosmia PMID:28067909|PMID:28492532|PMID:31312724|PMID:8723126 12190654 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9004147 Anosmia ISO RGD:1601772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anosmia PMID:28067909|PMID:28492532|PMID:31312724|PMID:8723126 12190654 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9005523 Majeed Syndrome ISO RGD:1601772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Majeed syndrome PMID:15994876|PMID:23087183|PMID:28492532 12190654 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9005532 Muscle Weakness ISO RGD:1601772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:23143600|PMID:28492532 12190654 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9006386 Scapulohumeral Muscular Dystrophy ISO RGD:1601772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Scapulohumeral muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532|PMID:32528171 12190654 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9007423 Arhinia, Choanal Atresia, and Microphthalmia ISO RGD:1601772 D RGD:7240710 20190315 OMIM 12190654 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9007423 Arhinia, Choanal Atresia, and Microphthalmia ISO RGD:1601772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arhinia, choanal atresia, and microphthalmia PMID:11321738|PMID:16353241|PMID:23143600|PMID:23432817|PMID:23852095|PMID:25741868|PMID:26440771|PMID:26467025|PMID:26842768|PMID:28067909|PMID:28067911|PMID:28492532|PMID:31243061|PMID:31312724|PMID:5032329|PMID:672092|PMID:6802865|PMID:8446727|PMID:8723126 12190654 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9008342 Johnson Munson Syndrome ISO RGD:1601772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aphalangy of the hands and feet, hemivertebrae, and visceral malformations PMID:25741868 12190654 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9884 muscular dystrophy ISO RGD:1601772 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy 12190713 ASIC2 acid sensing ion channel subunit 2 gene DOID:10283 prostate cancer ISO RGD:737359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12190713 ASIC2 acid sensing ion channel subunit 2 gene DOID:12849 autistic disorder ISO RGD:737359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17376794 12190713 ASIC2 acid sensing ion channel subunit 2 gene DOID:630 genetic disease ISO RGD:737359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190713 ASIC2 acid sensing ion channel subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12190713 ASIC2 acid sensing ion channel subunit 2 gene DOID:9005372 Inflammation ISO RGD:737359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11588175 12190735 SURF4 surfeit 4 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1322534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12190735 SURF4 surfeit 4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1322534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12190735 SURF4 surfeit 4 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1322534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12190735 SURF4 surfeit 4 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1322534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12190735 SURF4 surfeit 4 gene DOID:0081097 Rafiq syndrome ISO RGD:1322534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12190735 SURF4 surfeit 4 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1322534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12190735 SURF4 surfeit 4 gene DOID:3652 Leigh disease ISO RGD:1322534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12190735 SURF4 surfeit 4 gene DOID:630 genetic disease ISO RGD:1322534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190735 SURF4 surfeit 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12190745 OR2A14 olfactory receptor family 2 subfamily A member 14 gene DOID:630 genetic disease ISO RGD:1344604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190749 SPEM1 spermatid maturation 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1602954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12190749 SPEM1 spermatid maturation 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1602954 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12190749 SPEM1 spermatid maturation 1 gene DOID:1059 intellectual disability ISO RGD:1602954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12190749 SPEM1 spermatid maturation 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1602954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12190749 SPEM1 spermatid maturation 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1602954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12190749 SPEM1 spermatid maturation 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1602954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12190749 SPEM1 spermatid maturation 1 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1602954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12190749 SPEM1 spermatid maturation 1 gene DOID:630 genetic disease ISO RGD:1602954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190768 RAB31 RAB31, member RAS oncogene family gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:734458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12190768 RAB31 RAB31, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:734458 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12190768 RAB31 RAB31, member RAS oncogene family gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:734458 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 12190768 RAB31 RAB31, member RAS oncogene family gene DOID:543 dystonia ISO RGD:734458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 12190768 RAB31 RAB31, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:734458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190768 RAB31 RAB31, member RAS oncogene family gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12190790 WT1 WT1 transcription factor gene DOID:0050438 Frasier syndrome ISO RGD:69122 D RGD:7240710 20180130 OMIM 12190790 WT1 WT1 transcription factor gene DOID:0050438 Frasier syndrome ISO RGD:69122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frasier syndrome PMID:10094551|PMID:10470095|PMID:10505700|PMID:10571943|PMID:10762296|PMID:11182928|PMID:11241055|PMID:11738793|PMID:12050205|PMID:12471221|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15266301|PMID:15483024|PMID:15509792|PMID:1655284|PMID:1658787|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17694336|PMID:17853480|PMID:18559874|PMID:18591546|PMID:18618575|PMID:19171881|PMID:19205749|PMID:19221039|PMID:19484379|PMID:19494353|PMID:19536888|PMID:20368469|PMID:20413658|PMID:20435628|PMID:20442690|PMID:20595692|PMID:21499692|PMID:21504297|PMID:21508141|PMID:21851196|PMID:22099579|PMID:23117548|PMID:23295293|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24161391|PMID:24856380|PMID:25110071|PMID:25501161|PMID:25741868|PMID:25818337|PMID:25932436|PMID:26069768|PMID:26358501|PMID:26467025|PMID:26725263|PMID:27013732|PMID:27719739|PMID:27899157|PMID:28204945|PMID:28492532|PMID:28529006|PMID:28780565|PMID:29668062|PMID:30406062|PMID:30655312|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:8388765|PMID:9090524|PMID:9108089|PMID:9398852|PMID:9499425|PMID:9529364|PMID:9531607|PMID:9536098|PMID:9607189 12190790 WT1 WT1 transcription factor gene DOID:0050933 ovarian serous carcinoma ISO RGD:69122 D RGD:9068941 20200609 RGD PMID:19856421|REF_RGD_ID:2315539 12190790 WT1 WT1 transcription factor gene DOID:0060318 acute promyelocytic leukemia ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 12190790 WT1 WT1 transcription factor gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:69122 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:28492532 12190790 WT1 WT1 transcription factor gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:69122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:10094551|PMID:10470095|PMID:10505700|PMID:10762296|PMID:11182928|PMID:12050205|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15509792|PMID:1655284|PMID:1658787|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17694336|PMID:17853480|PMID:19484379|PMID:20442690|PMID:21499692|PMID:22099579|PMID:23295293|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24161391|PMID:24856380|PMID:25501161|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26467025|PMID:27013732|PMID:27719739|PMID:27899157|PMID:28204945|PMID:28492532|PMID:28780565|PMID:29668062|PMID:30406062|PMID:30655312|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:9090524|PMID:9398852|PMID:9499425|PMID:9529364|PMID:9536098|PMID:9607189 12190790 WT1 WT1 transcription factor gene DOID:0080383 nephrotic syndrome type 4 ISO RGD:69122 D RGD:7240710 20180130 OMIM 12190790 WT1 WT1 transcription factor gene DOID:0080383 nephrotic syndrome type 4 ISO RGD:69122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 4 PMID:10094551|PMID:10470095|PMID:10505700|PMID:10603123|PMID:10762296|PMID:11182928|PMID:11278460|PMID:11322369|PMID:12050205|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15266301|PMID:15483024|PMID:15509792|PMID:1655284|PMID:1658787|PMID:16932893|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17694336|PMID:17853480|PMID:18203154|PMID:18559874|PMID:18591546|PMID:19171881|PMID:19221039|PMID:19484379|PMID:19494353|PMID:19536888|PMID:20368469|PMID:20413658|PMID:20435628|PMID:20442690|PMID:20562648|PMID:21125408|PMID:21499692|PMID:21851196|PMID:22099579|PMID:22172722|PMID:23295293|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24161391|PMID:24728327|PMID:24856380|PMID:25110071|PMID:25145932|PMID:25349199|PMID:25383892|PMID:25501161|PMID:25720465|PMID:25741868|PMID:25818337|PMID:25932436|PMID:26069768|PMID:26358501|PMID:26467025|PMID:26725263|PMID:26882358|PMID:27013732|PMID:27300205|PMID:27719739|PMID:27899157|PMID:28204945|PMID:28492532|PMID:28529006|PMID:28780565|PMID:29668062|PMID:30406062|PMID:30655312|PMID:30721404|PMID:30963316|PMID:31937884|PMID:32352694|PMID:32581362|PMID:33226606|PMID:34386660|PMID:6307071|PMID:7795587|PMID:8295405|PMID:8810912|PMID:9090524|PMID:9108089|PMID:9398852|PMID:9475094|PMID:9499425|PMID:9529364|PMID:9536098|PMID:9607189 12190790 WT1 WT1 transcription factor gene DOID:0080638 B-cell acute lymphoblastic leukemia ISO RGD:69122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: B Acute Lymphoblastic Leukemia PMID:12640141|PMID:16987884|PMID:25741868|PMID:28492532|PMID:28811308|PMID:8621495 12190790 WT1 WT1 transcription factor gene DOID:0111365 benign familial hematuria ISO RGD:69122 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microscopic hematuria PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532 12190790 WT1 WT1 transcription factor gene DOID:1059 intellectual disability ISO RGD:69122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12190790 WT1 WT1 transcription factor gene DOID:10652 Alzheimer's disease ISO RGD:69122 D RGD:9068941 20200609 RGD PMID:12914969|REF_RGD_ID:1580623 12190790 WT1 WT1 transcription factor gene DOID:1184 nephrotic syndrome ISO RGD:69122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome PMID:10094551|PMID:10470095|PMID:10505700|PMID:11182928|PMID:12050205|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15509792|PMID:1655284|PMID:1658787|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17853480|PMID:19484379|PMID:20442690|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24161391|PMID:25501161|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26467025|PMID:27013732|PMID:27899157|PMID:28204945|PMID:28492532|PMID:29668062|PMID:30655312|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:9090524|PMID:9398852|PMID:9499425|PMID:9529364|PMID:9536098|PMID:9607189 12190790 WT1 WT1 transcription factor gene DOID:12271 aniridia ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12190790 WT1 WT1 transcription factor gene DOID:1240 leukemia ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14961577 12190790 WT1 WT1 transcription factor gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:69122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:10571943|PMID:11241055|PMID:11738793|PMID:12471221|PMID:15150775|PMID:15483024|PMID:18559874|PMID:18591546|PMID:18618575|PMID:19171881|PMID:19205749|PMID:19221039|PMID:19494353|PMID:19536888|PMID:20368469|PMID:20413658|PMID:20435628|PMID:20595692|PMID:21504297|PMID:21508141|PMID:21851196|PMID:23117548|PMID:23515051|PMID:25110071|PMID:25145932|PMID:25349199|PMID:25383892|PMID:25741868|PMID:25818337|PMID:25932436|PMID:26467025|PMID:26725263|PMID:28492532|PMID:30406062|PMID:33226606|PMID:34386660|PMID:7795587|PMID:8388765|PMID:9108089|PMID:9531607 12190790 WT1 WT1 transcription factor gene DOID:1324 lung cancer ISO RGD:69122 D RGD:9068941 20220901 RGD mRNA:decreased expression:lung (human) PMID:27821145|REF_RGD_ID:153344578 12190790 WT1 WT1 transcription factor gene DOID:1380 endometrial cancer disease_progression ISO RGD:69122 D RGD:9068941 20200609 RGD PMID:19443388|REF_RGD_ID:2315542 12190790 WT1 WT1 transcription factor gene DOID:14447 gonadal dysgenesis ISO RGD:69122 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Gonadal dysgenesis PMID:25741868 12190790 WT1 WT1 transcription factor gene DOID:14515 WAGR syndrome ISO RGD:69122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome PMID:10470095|PMID:10505700|PMID:11182928|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15483024|PMID:15509792|PMID:1655284|PMID:17496156|PMID:17541636|PMID:17853480|PMID:23497137|PMID:23715653|PMID:23935527|PMID:25501161|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26467025|PMID:27013732|PMID:27899157|PMID:28204945|PMID:28492532|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:9090524|PMID:9529364|PMID:9607189 12190790 WT1 WT1 transcription factor gene DOID:1612 breast cancer disease_progression ISO RGD:69122 D RGD:9068941 20200609 RGD PMID:19407365|REF_RGD_ID:2315543 12190790 WT1 WT1 transcription factor gene DOID:1790 malignant mesothelioma ISO RGD:69122 D RGD:7240710 20180130 OMIM 12190790 WT1 WT1 transcription factor gene DOID:1790 malignant mesothelioma ISO RGD:69122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mesothelioma, malignant PMID:10470095|PMID:10505700|PMID:11182928|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15509792|PMID:1655284|PMID:17496156|PMID:17541636|PMID:17853480|PMID:23497137|PMID:23715653|PMID:23935527|PMID:25501161|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26467025|PMID:27013732|PMID:27899157|PMID:28204945|PMID:28492532|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:9090524|PMID:9529364|PMID:9607189 12190790 WT1 WT1 transcription factor gene DOID:1793 pancreatic cancer ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19196508 12190790 WT1 WT1 transcription factor gene DOID:1923 disorder of sexual development ISO RGD:69122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation PMID:25741868|PMID:28492532 12190790 WT1 WT1 transcription factor gene DOID:2154 nephroblastoma ISO RGD:69122 D RGD:7240710 20180130 OMIM 12190790 WT1 WT1 transcription factor gene DOID:2154 nephroblastoma ISO RGD:69122 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic PMID:10094551|PMID:10470095|PMID:10505700|PMID:10571943|PMID:10603123|PMID:10762296|PMID:11182928|PMID:11241055|PMID:11278460|PMID:11322369|PMID:11738793|PMID:12050205|PMID:12471221|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15266301|PMID:15483024|PMID:15509792|PMID:1654525|PMID:1655284|PMID:1658787|PMID:16932893|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17694336|PMID:17853480|PMID:18203154|PMID:18559874|PMID:18591546|PMID:18618575|PMID:18688870|PMID:19048299|PMID:19171881|PMID:19205749|PMID:19221039|PMID:19484379|PMID:19494353|PMID:19536888|PMID:20106868|PMID:20368469|PMID:20413658|PMID:20435628|PMID:20442690|PMID:20595692|PMID:21125408|PMID:21499692|PMID:21504297|PMID:21508141|PMID:21851196|PMID:22099579|PMID:22172722|PMID:22703879|PMID:22796116|PMID:23117548|PMID:23295293|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24161391|PMID:24728327|PMID:24856380|PMID:25110071|PMID:25451826|PMID:25501161|PMID:25720465|PMID:25741868|PMID:25818337|PMID:25932436|PMID:26069768|PMID:26358501|PMID:26467025|PMID:26725263|PMID:26822237|PMID:26882358|PMID:27013732|PMID:27300205|PMID:27719739|PMID:27899157|PMID:28204945|PMID:28492532|PMID:28529006|PMID:28780565|PMID:29668062|PMID:30406062|PMID:30655312|PMID:30721404|PMID:30963316|PMID:31937884|PMID:32352694|PMID:32581362|PMID:35535697|PMID:6307071|PMID:7795587|PMID:8295405|PMID:8388765|PMID:8810912|PMID:8975729|PMID:9090524|PMID:9108089|PMID:9398852|PMID:9475094|PMID:9499425|PMID:9529364|PMID:9531607|PMID:9536098|PMID:9607189 12190790 WT1 WT1 transcription factor gene DOID:2394 ovarian cancer ISO RGD:69122 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 12190790 WT1 WT1 transcription factor gene DOID:2921 glomerulonephritis ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20962747 12190790 WT1 WT1 transcription factor gene DOID:3068 glioblastoma ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20820871 12190790 WT1 WT1 transcription factor gene DOID:3192 neurilemmoma ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25474318 12190790 WT1 WT1 transcription factor gene DOID:3347 osteosarcoma ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28107196 12190790 WT1 WT1 transcription factor gene DOID:3764 Denys-Drash syndrome ISO RGD:69122 D RGD:7240710 20180130 OMIM 12190790 WT1 WT1 transcription factor gene DOID:3764 Denys-Drash syndrome ISO RGD:69122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Drash syndrome | ClinVar Annotator: match by term: Pseudohermaphroditism, nephron disorder and Wilms' tumor PMID:10094551|PMID:10470095|PMID:10505700|PMID:10571943|PMID:10603123|PMID:10762296|PMID:11182928|PMID:11241055|PMID:11278460|PMID:11322369|PMID:11738793|PMID:12024052|PMID:12050205|PMID:12471221|PMID:12640141|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:1350671|PMID:15150775|PMID:15266301|PMID:15483024|PMID:15509792|PMID:15957141|PMID:16199547|PMID:1655284|PMID:1658787|PMID:16717397|PMID:16932893|PMID:16987884|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17630404|PMID:17694336|PMID:17853480|PMID:18203154|PMID:18559874|PMID:18591546|PMID:18618575|PMID:19048299|PMID:19171881|PMID:19205749|PMID:19221039|PMID:19484379|PMID:19494353|PMID:19536888|PMID:20106868|PMID:20368469|PMID:20413658|PMID:20435628|PMID:20442690|PMID:20562648|PMID:20595692|PMID:21125408|PMID:21384108|PMID:21499692|PMID:21504297|PMID:21508141|PMID:21851196|PMID:22099579|PMID:22172722|PMID:22465478|PMID:22703879|PMID:22876585|PMID:23117548|PMID:23295293|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24138039|PMID:24161391|PMID:24379226|PMID:24402088|PMID:24728327|PMID:24856380|PMID:25110071|PMID:25145932|PMID:25349199|PMID:25383892|PMID:25451826|PMID:25501161|PMID:25720465|PMID:25741868|PMID:25818337|PMID:25932436|PMID:26069768|PMID:26358501|PMID:26467025|PMID:26661695|PMID:26725263|PMID:26882358|PMID:27013732|PMID:27124303|PMID:27241786|PMID:27300205|PMID:27719739|PMID:27899157|PMID:28204945|PMID:28334862|PMID:28492532|PMID:28529006|PMID:28658201|PMID:28780565|PMID:28811308|PMID:29668062|PMID:30221469|PMID:30406062|PMID:30655312|PMID:30668521|PMID:30721404|PMID:30963316|PMID:31937884|PMID:32352694|PMID:32493750|PMID:32581362|PMID:32604935|PMID:33226606|PMID:34386660|PMID:35535697|PMID:5665984|PMID:6307071|PMID:7795587|PMID:8295405|PMID:8388765|PMID:8411073|PMID:8621495|PMID:8810912|PMID:8956030|PMID:8975729|PMID:9090524|PMID:9108089|PMID:9398852|PMID:9475094|PMID:9499425|PMID:9529364|PMID:9531607|PMID:9536098|PMID:9607189|PMID:9817285 12190790 WT1 WT1 transcription factor gene DOID:3827 congenital diaphragmatic hernia ISO RGD:11493 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 12190790 WT1 WT1 transcription factor gene DOID:3827 congenital diaphragmatic hernia ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21072664 12190790 WT1 WT1 transcription factor gene DOID:5176 renal Wilms' tumor ISO RGD:69122 D RGD:9068941 20221103 RGD human tumor in mouse model PMID:18467665|REF_RGD_ID:155631277 12190790 WT1 WT1 transcription factor gene DOID:5426 primary ovarian insufficiency ISO RGD:69122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12190790 WT1 WT1 transcription factor gene DOID:557 kidney disease ISO RGD:69122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:10470095|PMID:10505700|PMID:11182928|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15483024|PMID:15509792|PMID:1655284|PMID:17496156|PMID:17541636|PMID:17853480|PMID:23497137|PMID:23715653|PMID:23935527|PMID:25501161|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26467025|PMID:27013732|PMID:27899157|PMID:28204945|PMID:28492532|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:9090524|PMID:9529364|PMID:9607189 12190790 WT1 WT1 transcription factor gene DOID:576 proteinuria ISO RGD:69122 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:25741868|PMID:28492532 12190790 WT1 WT1 transcription factor gene DOID:630 genetic disease ISO RGD:69122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15150775|PMID:19048299|PMID:25741868|PMID:28492532|PMID:9108089 12190790 WT1 WT1 transcription factor gene DOID:784 chronic kidney disease ISO RGD:69122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 12190790 WT1 WT1 transcription factor gene DOID:784 chronic kidney disease treatment ISO RGD:69122 D RGD:9068941 20221103 RGD human cells in rat model PMID:33298161|REF_RGD_ID:155631310 12190790 WT1 WT1 transcription factor gene DOID:8552 chronic myeloid leukemia ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17157168 12190790 WT1 WT1 transcription factor gene DOID:9001834 Peritoneal Neoplasms ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 12190790 WT1 WT1 transcription factor gene DOID:9002455 Aniridia 1 ISO RGD:69122 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aniridia 1 PMID:10470095|PMID:10505700|PMID:10571943|PMID:10762296|PMID:11182928|PMID:11241055|PMID:11278460|PMID:11322369|PMID:11738793|PMID:12471221|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15483024|PMID:15509792|PMID:1655284|PMID:1658787|PMID:16932893|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17630404|PMID:17694336|PMID:17853480|PMID:18203154|PMID:18618575|PMID:19205749|PMID:19221039|PMID:20106868|PMID:20442690|PMID:20595692|PMID:21125408|PMID:21499692|PMID:21504297|PMID:21508141|PMID:21851196|PMID:22099579|PMID:22172722|PMID:23117548|PMID:23295293|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24138039|PMID:24728327|PMID:24856380|PMID:25145932|PMID:25349199|PMID:25383892|PMID:25501161|PMID:25720465|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26467025|PMID:26661695|PMID:26882358|PMID:27013732|PMID:27124303|PMID:27300205|PMID:27719739|PMID:27899157|PMID:28204945|PMID:28334862|PMID:28492532|PMID:28780565|PMID:30406062|PMID:30721404|PMID:30963316|PMID:31937884|PMID:32352694|PMID:32581362|PMID:33226606|PMID:34386660|PMID:6307071|PMID:7795587|PMID:8295405|PMID:8388765|PMID:8810912|PMID:8975729|PMID:9090524|PMID:9108089|PMID:9398852|PMID:9475094|PMID:9499425|PMID:9529364|PMID:9531607|PMID:9536098|PMID:9607189 12190790 WT1 WT1 transcription factor gene DOID:9002928 Colonic Neoplasms ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14961577 12190790 WT1 WT1 transcription factor gene DOID:9003125 Male Genital Neoplasms ISO RGD:69122 D RGD:9068941 20200609 RGD PMID:19543245|REF_RGD_ID:2315541 12190790 WT1 WT1 transcription factor gene DOID:9003566 Mesothelioma ISO RGD:69122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mesothelioma PMID:4332312|PMID:8298644 12190790 WT1 WT1 transcription factor gene DOID:9003775 Chromosome 11p Deletion Syndrome ISO RGD:69122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 11p deletion syndrome PMID:10470095|PMID:10505700|PMID:11182928|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15483024|PMID:15509792|PMID:1655284|PMID:17496156|PMID:17541636|PMID:17853480|PMID:23497137|PMID:23715653|PMID:23935527|PMID:25501161|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26467025|PMID:27013732|PMID:27899157|PMID:28204945|PMID:28492532|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:9090524|PMID:9529364|PMID:9607189 12190790 WT1 WT1 transcription factor gene DOID:9005172 Lung Neoplasms ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14961577 12190790 WT1 WT1 transcription factor gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:11493 D RGD:9068941 20221103 RGD mRNA:altered expression:kidney (mouse) PMID:18467665|REF_RGD_ID:155631277 12190790 WT1 WT1 transcription factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69122 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22703879|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532 12190790 WT1 WT1 transcription factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22703879|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532 12190790 WT1 WT1 transcription factor gene DOID:9007195 Meacham Winn Culler Syndrome ISO RGD:69122 D RGD:7240710 20180130 OMIM 12190790 WT1 WT1 transcription factor gene DOID:9007195 Meacham Winn Culler Syndrome ISO RGD:69122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meacham Winn Culler syndrome | ClinVar Annotator: match by term: Meacham syndrome PMID:10470095|PMID:10505700|PMID:10603123|PMID:11182928|PMID:12970737|PMID:1302008|PMID:1317572|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15266301|PMID:15483024|PMID:15509792|PMID:1655284|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17853480|PMID:18559874|PMID:18591546|PMID:19171881|PMID:19221039|PMID:19494353|PMID:19536888|PMID:20368469|PMID:20413658|PMID:20435628|PMID:22099579|PMID:22172722|PMID:23325811|PMID:23497137|PMID:23562652|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24728327|PMID:25110071|PMID:25501161|PMID:25741868|PMID:25818337|PMID:25932436|PMID:26069768|PMID:26358501|PMID:26467025|PMID:26725263|PMID:27013732|PMID:27300205|PMID:27899157|PMID:28204945|PMID:28492532|PMID:28529006|PMID:29474669|PMID:30963316|PMID:31937884|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:8810912|PMID:9090524|PMID:9529364|PMID:9536098|PMID:9607189|PMID:9916932 12190790 WT1 WT1 transcription factor gene DOID:9008897 Diffuse Mesangial Sclerosis ISO RGD:69122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, early onset with diffuse mesangial sclerosis PMID:10470095|PMID:10505700|PMID:11182928|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15483024|PMID:15509792|PMID:1655284|PMID:17496156|PMID:17541636|PMID:17853480|PMID:23497137|PMID:23715653|PMID:23935527|PMID:25501161|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26467025|PMID:27013732|PMID:27899157|PMID:28204945|PMID:28492532|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:9090524|PMID:9529364|PMID:9607189 12190790 WT1 WT1 transcription factor gene DOID:9008939 Breast Neoplasms ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14961577 12190790 WT1 WT1 transcription factor gene DOID:9009073 Diaphragmatic Hernia ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17436238 12190790 WT1 WT1 transcription factor gene DOID:9119 acute myeloid leukemia ISO RGD:69122 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:24374862|PMID:24422723|PMID:24521058|PMID:24659740|PMID:24667279|PMID:24671364|PMID:25145932|PMID:25741868 12190804 NPFFR1 neuropeptide FF receptor 1 gene DOID:630 genetic disease ISO RGD:1351737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190812 GREB1 growth regulating estrogen receptor binding 1 gene DOID:289 endometriosis ISO RGD:1605705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104006 12190812 GREB1 growth regulating estrogen receptor binding 1 gene DOID:5419 schizophrenia ISO RGD:1605705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12190812 GREB1 growth regulating estrogen receptor binding 1 gene DOID:630 genetic disease ISO RGD:1605705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190812 GREB1 growth regulating estrogen receptor binding 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16496412 12190869 TOMM22 translocase of outer mitochondrial membrane 22 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1342792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12190869 TOMM22 translocase of outer mitochondrial membrane 22 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1342792 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12190869 TOMM22 translocase of outer mitochondrial membrane 22 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1342792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12190869 TOMM22 translocase of outer mitochondrial membrane 22 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1342792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12190869 TOMM22 translocase of outer mitochondrial membrane 22 gene DOID:630 genetic disease ISO RGD:1342792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190877 CCNF cyclin F gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 12190877 CCNF cyclin F gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12190877 CCNF cyclin F gene DOID:0110532 autosomal recessive nonsyndromic deafness 86 ISO RGD:736837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 86 PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 12190877 CCNF cyclin F gene DOID:0110586 autosomal dominant nonsyndromic deafness 65 ISO RGD:736837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 65 PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 12190877 CCNF cyclin F gene DOID:1389 polyneuropathy ISO RGD:736837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:25741868 12190877 CCNF cyclin F gene DOID:1826 epilepsy ISO RGD:736837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizures PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 12190877 CCNF cyclin F gene DOID:1826 epilepsy ISO RGD:736837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12190877 CCNF cyclin F gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12190877 CCNF cyclin F gene DOID:308 early myoclonic encephalopathy ISO RGD:736837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 12190877 CCNF cyclin F gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12190877 CCNF cyclin F gene DOID:630 genetic disease ISO RGD:736837 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 12190877 CCNF cyclin F gene DOID:684 hepatocellular carcinoma ISO RGD:736837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12190877 CCNF cyclin F gene DOID:9005996 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-5 ISO RGD:736837 D RGD:7240710 20210113 OMIM 12190877 CCNF cyclin F gene DOID:9005996 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-5 ISO RGD:736837 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 PMID:25741868|PMID:27080313|PMID:28281833|PMID:31577344 12190877 CCNF cyclin F gene DOID:9007063 Myoclonic Epilepsy, Familial Infantile ISO RGD:736837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 12190877 CCNF cyclin F gene DOID:9255 frontotemporal dementia ISO RGD:736837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia 12190898 TTC5 tetratricopeptide repeat domain 5 gene DOID:630 genetic disease ISO RGD:1322658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190898 TTC5 tetratricopeptide repeat domain 5 gene DOID:9001167 NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM ISO RGD:1322658 D RGD:7240710 20210519 OMIM 12190898 TTC5 tetratricopeptide repeat domain 5 gene DOID:9001167 NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM ISO RGD:1322658 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism PMID:25741868|PMID:29302074|PMID:32439809 12190912 FCRL3 Fc receptor like 3 gene DOID:12361 Graves' disease ISO RGD:1604549 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:21841780 12190912 FCRL3 Fc receptor like 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1604549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12190912 FCRL3 Fc receptor like 3 gene DOID:630 genetic disease ISO RGD:1604549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190912 FCRL3 Fc receptor like 3 gene DOID:7188 autoimmune thyroiditis ISO RGD:1604549 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:17952073 12190912 FCRL3 Fc receptor like 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12190927 CCER1 coiled-coil glutamate rich protein 1 gene DOID:630 genetic disease ISO RGD:1606687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190935 BTF3L4 basic transcription factor 3 like 4 gene DOID:630 genetic disease ISO RGD:1605903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190963 DIMT1 DIM1 rRNA methyltransferase and ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1603655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190963 DIMT1 DIM1 rRNA methyltransferase and ribosome maturation factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12190978 PYGO1 pygopus family PHD finger 1 gene DOID:2717 Bloom syndrome ISO RGD:1346093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12190978 PYGO1 pygopus family PHD finger 1 gene DOID:630 genetic disease ISO RGD:1346093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12190978 PYGO1 pygopus family PHD finger 1 gene DOID:9256 colorectal cancer ISO RGD:1346093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12190986 MIR196A-1 microRNA mir-196a-1 gene DOID:10534 stomach cancer exacerbates ISO RGD:1353314 D RGD:9068941 20220825 RGD RNA:increased expression:stomach (human) PMID:25374225|REF_RGD_ID:153344565 12190986 MIR196A-1 microRNA mir-196a-1 gene DOID:219 colon cancer disease_progression ISO RGD:1353314 D RGD:9068941 20220825 RGD human cells in mouse model;RNA:decreased expression:colon,exosome (human) PMID:28211508|REF_RGD_ID:153344546 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:0060369 Parkinson's disease 6 ISO RGD:1346147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:0060578 Noonan syndrome 1 ISO RGD:1346147 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:11438998|PMID:12815606|PMID:22397652|PMID:25731960|PMID:25741868|PMID:28492532 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:0080006 bone development disease ISO RGD:1346147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:10679946|PMID:19500388|PMID:24100244|PMID:25741868|PMID:28492532|PMID:30755392|PMID:3174660 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1346147 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1346147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:0110913 adult hypophosphatasia ISO RGD:1346147 D RGD:7240710 20180130 OMIM 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:0110913 adult hypophosphatasia ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adult hypophosphatasia PMID:10094560|PMID:10332035|PMID:10508980|PMID:10679946|PMID:10839996|PMID:10872988|PMID:11438998|PMID:11479741|PMID:11745997|PMID:11760847|PMID:11855933|PMID:12162492|PMID:12357339|PMID:12412800|PMID:12638946|PMID:12815606|PMID:12920074|PMID:1409720|PMID:15137467|PMID:15300736|PMID:15660230|PMID:15671102|PMID:15694177|PMID:16199547|PMID:16583935|PMID:17212778|PMID:17213282|PMID:17229666|PMID:17253930|PMID:17719863|PMID:17916236|PMID:17922851|PMID:18328985|PMID:18340466|PMID:18455459|PMID:18523927|PMID:18559907|PMID:18769927|PMID:18821074|PMID:18925618|PMID:19232125|PMID:19335222|PMID:19500388|PMID:20049532|PMID:20089612|PMID:20739387|PMID:20924064|PMID:21168482|PMID:21228398|PMID:21713987|PMID:21956185|PMID:22014174|PMID:22397652|PMID:22781519|PMID:22913777|PMID:22995991|PMID:23509830|PMID:23688511|PMID:23791648|PMID:24022022|PMID:24033266|PMID:24100244|PMID:24145968|PMID:24276437|PMID:24569605|PMID:25023282|PMID:25100374|PMID:25716980|PMID:25731960|PMID:25741868|PMID:26272126|PMID:26432670|PMID:26459154|PMID:26467025|PMID:26783040|PMID:27699270|PMID:27777120|PMID:27884173|PMID:27920814|PMID:27998428|PMID:28127875|PMID:28401263|PMID:28436937|PMID:28492530|PMID:28492532|PMID:28506345|PMID:28580391|PMID:28586049|PMID:28749478|PMID:29159075|PMID:29236161|PMID:29354166|PMID:29724887|PMID:30138938|PMID:30283912|PMID:30293248|PMID:30446691|PMID:30555565|PMID:30576866|PMID:30719581|PMID:30979366|PMID:31400546|PMID:31600233|PMID:31641588|PMID:31707452|PMID:3174660|PMID:31760938|PMID:31857675|PMID:32066479|PMID:32160374|PMID:32973344|PMID:33452237|PMID:33549410|PMID:33814268|PMID:33977024|PMID:34000433|PMID:7833929|PMID:8406453|PMID:8675582|PMID:8954059|PMID:9452105|PMID:9562633|PMID:9618260|PMID:9781036|PMID:9814472 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:0110914 infantile hypophosphatasia ISO RGD:1346147 D RGD:7240710 20180130 OMIM 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:0110914 infantile hypophosphatasia ISO RGD:1346147 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Infantile hypophosphatasia PMID:10094560|PMID:10332035|PMID:10508980|PMID:10679946|PMID:10834525|PMID:10839996|PMID:10872988|PMID:11438998|PMID:11479741|PMID:11745997|PMID:11760847|PMID:11810413|PMID:11855933|PMID:11999978|PMID:12162492|PMID:12230456|PMID:12357339|PMID:12412800|PMID:12638946|PMID:12815606|PMID:12920074|PMID:1409720|PMID:15135428|PMID:15137467|PMID:15300736|PMID:15660230|PMID:15671102|PMID:15694177|PMID:15794757|PMID:15840803|PMID:16199547|PMID:16583935|PMID:16769381|PMID:17212778|PMID:17213282|PMID:17229666|PMID:17253930|PMID:17719863|PMID:17916236|PMID:17922851|PMID:18328985|PMID:18340466|PMID:18455459|PMID:18523927|PMID:18559907|PMID:18769927|PMID:18821074|PMID:18925618|PMID:19232125|PMID:19335222|PMID:19500388|PMID:20049532|PMID:20089612|PMID:20383509|PMID:20739387|PMID:20924064|PMID:21168482|PMID:21228398|PMID:21342251|PMID:21713987|PMID:21956185|PMID:22014174|PMID:22322541|PMID:22397652|PMID:22781519|PMID:22913777|PMID:22995991|PMID:23454488|PMID:23509830|PMID:23580367|PMID:23688511|PMID:23926372|PMID:24022022|PMID:24033266|PMID:24100244|PMID:24145968|PMID:24276437|PMID:24334170|PMID:24378058|PMID:24569605|PMID:25023282|PMID:25716980|PMID:25731960|PMID:25736332|PMID:25741868|PMID:26272126|PMID:26432670|PMID:26459154|PMID:26467025|PMID:26783040|PMID:27179278|PMID:27312557|PMID:27699270|PMID:27884173|PMID:27920814|PMID:27998428|PMID:28127875|PMID:28401263|PMID:28436937|PMID:28492530|PMID:28492532|PMID:28506345|PMID:28580391|PMID:28663156|PMID:28749478|PMID:28763161|PMID:28802630|PMID:28939177|PMID:29159075|PMID:29236161|PMID:29354166|PMID:29724887|PMID:29760218|PMID:30049651|PMID:30283912|PMID:30293248|PMID:30576866|PMID:30755392|PMID:30979366|PMID:31400546|PMID:31600233|PMID:31641588|PMID:31707452|PMID:3174660|PMID:31760938|PMID:31787692|PMID:31793067|PMID:31857675|PMID:31905439|PMID:32066479|PMID:32112990|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33240318|PMID:33452237|PMID:33549410|PMID:33601892|PMID:33814268|PMID:33977024|PMID:34000433|PMID:35320273|PMID:7833929|PMID:8406453|PMID:8675582|PMID:8954059|PMID:9452105|PMID:9562633|PMID:9618260|PMID:9781036|PMID:9814472|PMID:9844100 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:0110915 childhood hypophosphatasia ISO RGD:1346147 D RGD:7240710 20180130 OMIM 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:0110915 childhood hypophosphatasia ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Childhood hypophosphatasia PMID:10094560|PMID:10332035|PMID:10508980|PMID:10679946|PMID:10839996|PMID:10872988|PMID:11438998|PMID:11479741|PMID:11760847|PMID:11855933|PMID:12162492|PMID:12357339|PMID:12815606|PMID:12920074|PMID:1409720|PMID:15135428|PMID:15300736|PMID:15671102|PMID:15694177|PMID:17213282|PMID:17229666|PMID:17253930|PMID:17719863|PMID:17922851|PMID:18340466|PMID:18523927|PMID:18559907|PMID:19232125|PMID:19335222|PMID:19500388|PMID:20089612|PMID:20739387|PMID:21168482|PMID:21228398|PMID:21713987|PMID:21956185|PMID:22397652|PMID:22913777|PMID:22995991|PMID:24022022|PMID:24033266|PMID:24276437|PMID:24378058|PMID:24569605|PMID:25023282|PMID:25716980|PMID:25731960|PMID:25736332|PMID:25741868|PMID:26272126|PMID:26432670|PMID:26467025|PMID:26783040|PMID:27179278|PMID:27884173|PMID:27920814|PMID:28127875|PMID:28401263|PMID:28492530|PMID:28492532|PMID:28506345|PMID:28580391|PMID:28663156|PMID:28763161|PMID:29159075|PMID:29236161|PMID:29354166|PMID:29724887|PMID:30249491|PMID:30283912|PMID:30576866|PMID:30719581|PMID:30979366|PMID:31088113|PMID:31641588|PMID:31707452|PMID:3174660|PMID:32160374|PMID:32973344|PMID:33549410|PMID:33814268|PMID:8675582 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:10907 microcephaly ISO RGD:1346147 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:11760847|PMID:12162492|PMID:18455459|PMID:18769927|PMID:18821074|PMID:25023282|PMID:25741868|PMID:28492532|PMID:30293248|PMID:31857675|PMID:32160374|PMID:33452237|PMID:9452105 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:11476 osteoporosis ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:10679946|PMID:19500388|PMID:25741868|PMID:28492532|PMID:29236161|PMID:3174660|PMID:32973344 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:12347 osteogenesis imperfecta ISO RGD:1346147 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10094560|PMID:10332035|PMID:10679946|PMID:10839996|PMID:11438998|PMID:11479741|PMID:11855933|PMID:12357339|PMID:12412800|PMID:12638946|PMID:1409720|PMID:15300736|PMID:15660230|PMID:15671102|PMID:15694177|PMID:16769381|PMID:17229666|PMID:17253930|PMID:17719863|PMID:18523927|PMID:18559907|PMID:18769927|PMID:19232125|PMID:19335222|PMID:19500388|PMID:20089612|PMID:20739387|PMID:21228398|PMID:21956185|PMID:22014174|PMID:22397652|PMID:22913777|PMID:22995991|PMID:23791648|PMID:24022022|PMID:24033266|PMID:24276437|PMID:24378058|PMID:24569605|PMID:25023282|PMID:25731960|PMID:25741868|PMID:26272126|PMID:26432670|PMID:26467025|PMID:26783040|PMID:27884173|PMID:27920814|PMID:28127875|PMID:28492530|PMID:28492532|PMID:28506345|PMID:28580391|PMID:28663156|PMID:29159075|PMID:29236161|PMID:29354166|PMID:30283912|PMID:30576866|PMID:31707452|PMID:32066479|PMID:32160374|PMID:8406453|PMID:8954059|PMID:9618260|PMID:9781036|PMID:9814472 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:12347 osteogenesis imperfecta ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10094560|PMID:10332035|PMID:10679946|PMID:10839996|PMID:11438998|PMID:11479741|PMID:11855933|PMID:12357339|PMID:12412800|PMID:12638946|PMID:1409720|PMID:15300736|PMID:15660230|PMID:15671102|PMID:15694177|PMID:16769381|PMID:17229666|PMID:17253930|PMID:17719863|PMID:18523927|PMID:18559907|PMID:18769927|PMID:19232125|PMID:19335222|PMID:19500388|PMID:20089612|PMID:20739387|PMID:21228398|PMID:21956185|PMID:22014174|PMID:22397652|PMID:22913777|PMID:22995991|PMID:23791648|PMID:24022022|PMID:24033266|PMID:24276437|PMID:24378058|PMID:24569605|PMID:25023282|PMID:25731960|PMID:25741868|PMID:26272126|PMID:26432670|PMID:26467025|PMID:26783040|PMID:27884173|PMID:27920814|PMID:28127875|PMID:28492530|PMID:28492532|PMID:28506345|PMID:28580391|PMID:28663156|PMID:29159075|PMID:29236161|PMID:29354166|PMID:30049651|PMID:30283912|PMID:30576866|PMID:30719581|PMID:31600233|PMID:31641588|PMID:31707452|PMID:32066479|PMID:32160374|PMID:32973344|PMID:33549410|PMID:33814268|PMID:8406453|PMID:8954059|PMID:9618260|PMID:9781036|PMID:9814472 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:12466 secondary hyperparathyroidism ISO RGD:1346147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22373954 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:13809 familial combined hyperlipidemia ISO RGD:1346147 D RGD:9068941 20200609 RGD PMID:16336518|REF_RGD_ID:1601173 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:14213 hypophosphatasia ISO RGD:1346147 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypophosphatasia PMID:10094560|PMID:10332035|PMID:10508980|PMID:10636450|PMID:10679946|PMID:10839996|PMID:10872988|PMID:11438998|PMID:11479741|PMID:11547844|PMID:11745997|PMID:11760847|PMID:11802776|PMID:11834095|PMID:11855933|PMID:12162492|PMID:12357339|PMID:12412800|PMID:12638946|PMID:12815606|PMID:12920074|PMID:1409720|PMID:15135428|PMID:15137467|PMID:15300736|PMID:15660230|PMID:15671102|PMID:15694177|PMID:15794757|PMID:16199547|PMID:16583935|PMID:16769381|PMID:17212778|PMID:17213282|PMID:17229666|PMID:17253930|PMID:17719863|PMID:17916236|PMID:17922851|PMID:18328985|PMID:18340466|PMID:18455459|PMID:18523927|PMID:18559907|PMID:18769927|PMID:18818947|PMID:18821074|PMID:18925618|PMID:19232125|PMID:19335222|PMID:19500388|PMID:20049532|PMID:20089612|PMID:20383509|PMID:20739387|PMID:20924064|PMID:21168482|PMID:21228398|PMID:21342251|PMID:21713987|PMID:21956185|PMID:22014174|PMID:22322541|PMID:22397652|PMID:22781519|PMID:22913777|PMID:22995991|PMID:23454488|PMID:23509830|PMID:23688511|PMID:23791648|PMID:23926372|PMID:24022022|PMID:24033266|PMID:24100244|PMID:24276437|PMID:24334170|PMID:24378058|PMID:24569605|PMID:25023282|PMID:25716980|PMID:25731960|PMID:25736332|PMID:25741868|PMID:26219717|PMID:26272126|PMID:26432670|PMID:26432671|PMID:26459154|PMID:26467025|PMID:26783040|PMID:26823351|PMID:26896157|PMID:27179278|PMID:27699270|PMID:27777120|PMID:27884173|PMID:27920814|PMID:27998428|PMID:28127875|PMID:28401263|PMID:28436937|PMID:28492530|PMID:28492532|PMID:28506345|PMID:28580391|PMID:28663156|PMID:28749478|PMID:28763161|PMID:28802630|PMID:29159075|PMID:29236161|PMID:29354166|PMID:29724887|PMID:29760218|PMID:30049651|PMID:30249491|PMID:30283912|PMID:30293248|PMID:30576866|PMID:30655187|PMID:30719581|PMID:30755392|PMID:30864637|PMID:31088113|PMID:31146036|PMID:31400546|PMID:31485555|PMID:31600233|PMID:31641588|PMID:31707452|PMID:3174660|PMID:31760938|PMID:31787692|PMID:31793067|PMID:31857675|PMID:31905439|PMID:32112990|PMID:32160374|PMID:32879991|PMID:32973344|PMID:32981126|PMID:32987199|PMID:33191482|PMID:33240318|PMID:33452237|PMID:33549410|PMID:33579333|PMID:33601892|PMID:33814268|PMID:33827627|PMID:33977024|PMID:34000433|PMID:35320273|PMID:7833929|PMID:8406453|PMID:8675582|PMID:8954059|PMID:9452105|PMID:9562633|PMID:9618260|PMID:9781036|PMID:9814472|PMID:9844100 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:14213 hypophosphatasia susceptibility ISO RGD:1346147 D RGD:9068941 20200609 RGD PMID:8406453|REF_RGD_ID:1599076 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:182 calcinosis ISO RGD:1346147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21193197 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:2349 arteriosclerosis ISO RGD:1346147 D RGD:9068941 20200609 RGD protein:decrease expression:serum PMID:17010978|REF_RGD_ID:1601172 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:409 liver disease ISO RGD:1346147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:4676 uremia ISO RGD:2100 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:18288101|REF_RGD_ID:2315619 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:630 genetic disease ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10332035|PMID:10679946|PMID:11438998|PMID:11479741|PMID:11760847|PMID:11855933|PMID:11999978|PMID:12162492|PMID:12357339|PMID:1409720|PMID:15671102|PMID:15694177|PMID:16199547|PMID:16583935|PMID:16769381|PMID:17253930|PMID:17719863|PMID:18455459|PMID:18769927|PMID:18821074|PMID:18925618|PMID:19232125|PMID:19500388|PMID:20739387|PMID:20924064|PMID:21956185|PMID:22014174|PMID:23791648|PMID:24276437|PMID:24569605|PMID:25023282|PMID:25731960|PMID:25741868|PMID:26432670|PMID:26432671|PMID:26467025|PMID:28127875|PMID:28401263|PMID:28436937|PMID:28492532|PMID:29236161|PMID:29620724|PMID:30049651|PMID:30293248|PMID:31600233|PMID:3174660|PMID:31793067|PMID:31857675|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33191482|PMID:33452237|PMID:33549410|PMID:33579333|PMID:33814268|PMID:33977024|PMID:9452105|PMID:9781036 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:65 connective tissue disease ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:8719 in situ carcinoma ISO RGD:1346147 D RGD:9068941 20200609 RGD associated with Testicular Neoplasms;protein:increased expression:testis PMID:10547581|REF_RGD_ID:2315616 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1346147 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:10547581|REF_RGD_ID:2315616 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:9000808 Hypercholesterolemia ISO RGD:2100 D RGD:9068941 20200609 RGD PMID:17403193|REF_RGD_ID:1601171 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:9000927 Alveolar Bone Loss ISO RGD:1346147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20630305 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:9001292 Odontohypophosphatasia ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Low alkaline phosphatase | ClinVar Annotator: match by term: Odontohypophosphatasia PMID:10094560|PMID:10332035|PMID:10679946|PMID:10872988|PMID:11438998|PMID:11479741|PMID:11760847|PMID:11855933|PMID:12162492|PMID:12357339|PMID:12815606|PMID:12920074|PMID:1409720|PMID:15671102|PMID:17576681|PMID:17719863|PMID:18340466|PMID:18455459|PMID:19232125|PMID:19500388|PMID:20739387|PMID:21168482|PMID:24569605|PMID:25716980|PMID:25731960|PMID:25741868|PMID:28492532|PMID:28663156|PMID:29236161|PMID:30719581|PMID:31600233|PMID:31641588|PMID:32160374|PMID:32973344|PMID:33549410|PMID:33814268|PMID:8675582|PMID:9452105|PMID:9536098 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:9002202 Opsismodysplasia ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Delayed skeletal maturation PMID:10332035|PMID:10679946|PMID:11438998|PMID:11855933|PMID:12357339|PMID:1409720|PMID:15671102|PMID:17719863|PMID:19232125|PMID:19500388|PMID:20739387|PMID:24569605|PMID:25731960|PMID:25741868|PMID:28492532|PMID:29236161|PMID:32160374|PMID:32973344|PMID:33549410 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1346147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26773408 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:9003004 MICROMELIA ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Micromelia PMID:25741868|PMID:28492532|PMID:29160033|PMID:31146036 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:9004649 Heat Stroke ISO RGD:1346147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16878031 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:9004919 Perinatal Lethal Hypophosphatasia ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perinatal lethal hypophosphatasia PMID:10679946|PMID:11745997|PMID:16199547|PMID:18925618|PMID:19232125|PMID:19500388|PMID:23454488|PMID:23688511|PMID:25731960|PMID:25741868|PMID:26467025|PMID:27699270|PMID:27998428|PMID:28401263|PMID:28436937|PMID:28492532|PMID:29236161|PMID:31400546|PMID:3174660|PMID:32160374|PMID:32973344|PMID:33601892|PMID:33814268|PMID:9781036 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:9006205 Animal Disease Models ISO RGD:1346147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27466191 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1346147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:1346147 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16249437|REF_RGD_ID:1601174 12191049 ALPL alkaline phosphatase, biomineralization associated gene DOID:9452 fatty liver disease ISO RGD:1346147 D RGD:9068941 20200609 RGD associated with obesity PMID:16197789|REF_RGD_ID:1601177 12191076 PON3 paraoxonase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1344009 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12191076 PON3 paraoxonase 3 gene DOID:10608 celiac disease ISO RGD:1344009 D RGD:9068941 20200609 RGD mRNA:decreased expression:duodenum PMID:17664137|REF_RGD_ID:5509924 12191076 PON3 paraoxonase 3 gene DOID:10652 Alzheimer's disease ISO RGD:1344009 D RGD:9068941 20200609 RGD DNA:polymorphisms:multiple SNPs PMID:16319130|REF_RGD_ID:5509926 12191076 PON3 paraoxonase 3 gene DOID:1936 atherosclerosis ISO RGD:1344009 D RGD:9068941 20200609 RGD mRNA:altered expression::human transgene expression in ApoE-KO mice was protective PMID:20182519|REF_RGD_ID:5509927 12191076 PON3 paraoxonase 3 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1344009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532 12191076 PON3 paraoxonase 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12191076 PON3 paraoxonase 3 gene DOID:630 genetic disease ISO RGD:1344009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191076 PON3 paraoxonase 3 gene DOID:8577 ulcerative colitis ISO RGD:1344009 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon PMID:17664137|REF_RGD_ID:5509924 12191076 PON3 paraoxonase 3 gene DOID:8778 Crohn's disease ISO RGD:1344009 D RGD:9068941 20200609 RGD mRNA:decreased expression:terminal ileum PMID:17664137|REF_RGD_ID:5509924 12191089 YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta gene DOID:11832 visual epilepsy ISO RGD:61998 D RGD:9068941 20230202 RGD PMID:12786973|REF_RGD_ID:2298728 12191089 YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta gene DOID:2234 focal epilepsy ISO RGD:737527 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12191089 YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta gene DOID:2316 brain ischemia ISO RGD:61998 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:15902199|REF_RGD_ID:2306031 12191089 YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:737527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12191099 COG6 component of oligomeric golgi complex 6 gene DOID:0070264 congenital disorder of glycosylation type IIl ISO RGD:1346233 D RGD:7240710 20180130 OMIM 12191099 COG6 component of oligomeric golgi complex 6 gene DOID:0070264 congenital disorder of glycosylation type IIl ISO RGD:1346233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COG6-CGD PMID:16199547|PMID:17576681|PMID:20605848|PMID:23430903|PMID:23606727|PMID:24033266|PMID:24667118|PMID:24667119|PMID:25558065|PMID:25741868|PMID:26260076|PMID:26937396|PMID:28492532|PMID:30426380|PMID:9536098 12191099 COG6 component of oligomeric golgi complex 6 gene DOID:1059 intellectual disability ISO RGD:1346233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:23606727|PMID:25558065|PMID:25741868 12191099 COG6 component of oligomeric golgi complex 6 gene DOID:11155 hypohidrosis ISO RGD:1346233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypohidrosis PMID:23606727|PMID:25558065|PMID:25741868 12191099 COG6 component of oligomeric golgi complex 6 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1346233 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:24033266|PMID:25741868|PMID:28492532 12191099 COG6 component of oligomeric golgi complex 6 gene DOID:630 genetic disease ISO RGD:1346233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12191099 COG6 component of oligomeric golgi complex 6 gene DOID:9001463 Shaheen Syndrome ISO RGD:1346233 D RGD:7240710 20180130 OMIM 12191099 COG6 component of oligomeric golgi complex 6 gene DOID:9001463 Shaheen Syndrome ISO RGD:1346233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Shaheen syndrome PMID:16199547|PMID:17576681|PMID:23606727|PMID:24033266|PMID:25558065|PMID:25741868|PMID:26260076|PMID:26937396|PMID:28492532|PMID:30426380|PMID:9536098 12191131 LEF1 lymphoid enhancer binding factor 1 gene DOID:0050827 rheumatic heart disease ISO RGD:620241 D RGD:9068941 20230202 RGD mRNA, protein:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 12191131 LEF1 lymphoid enhancer binding factor 1 gene DOID:0090020 split hand-foot malformation ISO RGD:735736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation PMID:25741868 12191131 LEF1 lymphoid enhancer binding factor 1 gene DOID:10283 prostate cancer ISO RGD:735736 D RGD:9068941 20200609 RGD associated with prostate cancer PMID:27067790|REF_RGD_ID:11531513 12191131 LEF1 lymphoid enhancer binding factor 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:735737 D RGD:9068941 20200609 RGD PMID:16738313|REF_RGD_ID:11252001 12191131 LEF1 lymphoid enhancer binding factor 1 gene DOID:2394 ovarian cancer ISO RGD:735736 D RGD:9068941 20200609 RGD protein:altered activity:ovary PMID:14520463|REF_RGD_ID:2298717 12191131 LEF1 lymphoid enhancer binding factor 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:735736 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid PMID:28677753|REF_RGD_ID:13792605 12191131 LEF1 lymphoid enhancer binding factor 1 gene DOID:5759 sebaceous gland neoplasm ISO RGD:735736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16565724 12191131 LEF1 lymphoid enhancer binding factor 1 gene DOID:630 genetic disease ISO RGD:735736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191131 LEF1 lymphoid enhancer binding factor 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:735736 D RGD:9068941 20200609 RGD PMID:27067790|REF_RGD_ID:11531513 12191131 LEF1 lymphoid enhancer binding factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 12191131 LEF1 lymphoid enhancer binding factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735736 D RGD:9068941 20200609 RGD associated with prostate cancer PMID:27067790|REF_RGD_ID:11531513 12191131 LEF1 lymphoid enhancer binding factor 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770605 12191131 LEF1 lymphoid enhancer binding factor 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:735736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21188121 12191131 LEF1 lymphoid enhancer binding factor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 12191131 LEF1 lymphoid enhancer binding factor 1 gene DOID:9006205 Animal Disease Models ISO RGD:735736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 12191131 LEF1 lymphoid enhancer binding factor 1 gene DOID:9006294 Congenital Limb Deformities ISO RGD:735736 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Abnormal radial ray morphology PMID:25741868 12191131 LEF1 lymphoid enhancer binding factor 1 gene DOID:9008763 Femoral Fractures ISO RGD:620241 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone PMID:16459154|REF_RGD_ID:2298720 12191131 LEF1 lymphoid enhancer binding factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 12191152 RPL26 ribosomal protein L26 gene DOID:0111892 Diamond-Blackfan anemia 11 ISO RGD:1321610 D RGD:7240710 20180130 OMIM 12191152 RPL26 ribosomal protein L26 gene DOID:0111892 Diamond-Blackfan anemia 11 ISO RGD:1321610 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 11 PMID:22431104|PMID:25741868|PMID:28492532 12191152 RPL26 ribosomal protein L26 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1321610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:25741868|PMID:28492532 12191152 RPL26 ribosomal protein L26 gene DOID:2729 dyskeratosis congenita ISO RGD:1321610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12191152 RPL26 ribosomal protein L26 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1321610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12191160 LOC481709 POU domain, class 5, transcription factor 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1346950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12191160 LOC481709 POU domain, class 5, transcription factor 1 gene DOID:630 genetic disease ISO RGD:1346950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191168 TMC8 transmembrane channel like 8 gene DOID:13777 epidermodysplasia verruciformis ISO RGD:1353841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis PMID:10084299|PMID:12426567|PMID:16045695|PMID:16199547|PMID:17576681|PMID:22158547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 12191168 TMC8 transmembrane channel like 8 gene DOID:630 genetic disease ISO RGD:1353841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12191168 TMC8 transmembrane channel like 8 gene DOID:9004020 Epidermodysplasia Verruciformis 1 ISO RGD:1353841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 PMID:12426567|PMID:17576681|PMID:22158547|PMID:25741868|PMID:28492532|PMID:9536098 12191168 TMC8 transmembrane channel like 8 gene DOID:9006415 Epidermodysplasia Verruciformis 2 ISO RGD:1353841 D RGD:7240710 20190315 OMIM 12191168 TMC8 transmembrane channel like 8 gene DOID:9006415 Epidermodysplasia Verruciformis 2 ISO RGD:1353841 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 PMID:10084299|PMID:12426567|PMID:17576681|PMID:22158547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28646613|PMID:9536098 12191188 ZFR2 zinc finger RNA binding protein 2 gene DOID:13938 amenorrhea ISO RGD:1312353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12191188 ZFR2 zinc finger RNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1312353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191188 ZFR2 zinc finger RNA binding protein 2 gene DOID:9970 obesity ISO RGD:1312353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 12191223 GRIN3B glutamate ionotropic receptor NMDA type subunit 3B gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1353575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 12191223 GRIN3B glutamate ionotropic receptor NMDA type subunit 3B gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1353575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 12191223 GRIN3B glutamate ionotropic receptor NMDA type subunit 3B gene DOID:5339 cyclic hematopoiesis ISO RGD:1353575 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12191223 GRIN3B glutamate ionotropic receptor NMDA type subunit 3B gene DOID:630 genetic disease ISO RGD:1353575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191223 GRIN3B glutamate ionotropic receptor NMDA type subunit 3B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12191236 CXCL13 C-X-C motif chemokine ligand 13 gene DOID:1790 malignant mesothelioma ISO RGD:1342514 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 12191236 CXCL13 C-X-C motif chemokine ligand 13 gene DOID:289 endometriosis ISO RGD:1342514 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30579999 12191236 CXCL13 C-X-C motif chemokine ligand 13 gene DOID:630 genetic disease ISO RGD:1342514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191236 CXCL13 C-X-C motif chemokine ligand 13 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1342514 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12191236 CXCL13 C-X-C motif chemokine ligand 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342514 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12191236 CXCL13 C-X-C motif chemokine ligand 13 gene DOID:9002801 Recurrence ISO RGD:1342514 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22607768 12191253 TMPRSS12 transmembrane serine protease 12 gene DOID:630 genetic disease ISO RGD:1606922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191266 NFATC2IP nuclear factor of activated T cells 2 interacting protein gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1349771 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 12191266 NFATC2IP nuclear factor of activated T cells 2 interacting protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1349771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 12191266 NFATC2IP nuclear factor of activated T cells 2 interacting protein gene DOID:5419 schizophrenia ISO RGD:1349771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12191266 NFATC2IP nuclear factor of activated T cells 2 interacting protein gene DOID:630 genetic disease ISO RGD:1349771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191266 NFATC2IP nuclear factor of activated T cells 2 interacting protein gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1349771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 12191278 MIR451 microRNA mir-451 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1603788 D RGD:9068941 20200609 RGD RNA:decreased expression:heart PMID:25209900|REF_RGD_ID:11558015 12191278 MIR451 microRNA mir-451 gene DOID:3770 pulmonary fibrosis ISO RGD:1603788 D RGD:9068941 20220609 CTD CTD Direct Evidence: therapeutic PMID:34460027 12191278 MIR451 microRNA mir-451 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1603788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12191303 LOC475399 heterogeneous nuclear ribonucleoprotein C gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1320619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:28492532 12191303 LOC475399 heterogeneous nuclear ribonucleoprotein C gene DOID:1936 atherosclerosis ISO RGD:1320619 D RGD:9068941 20200609 RGD protein:increased expression:internal carotid artery, smooth muscle cell (human) PMID:18508286|REF_RGD_ID:10054381 12191303 LOC475399 heterogeneous nuclear ribonucleoprotein C gene DOID:4362 cervical cancer ISO RGD:1320619 D RGD:9068941 20200609 RGD protein:increased expression:cervical epithelium (human) PMID:19319956|REF_RGD_ID:10054394 12191303 LOC475399 heterogeneous nuclear ribonucleoprotein C gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1320619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12191303 LOC475399 heterogeneous nuclear ribonucleoprotein C gene DOID:630 genetic disease ISO RGD:1320619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191303 LOC475399 heterogeneous nuclear ribonucleoprotein C gene DOID:9004610 Acute Lung Injury ISO RGD:1320620 D RGD:9068941 20200609 RGD protein:altered localization:lung (mouse) PMID:19029002|REF_RGD_ID:10054390 12191303 LOC475399 heterogeneous nuclear ribonucleoprotein C gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1320619 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12191343 IL17RB interleukin 17 receptor B gene DOID:2841 asthma ISO RGD:1622351 D RGD:9068941 20201218 RGD associated with Picornaviridae Infections PMID:25273095|REF_RGD_ID:39128256 12191343 IL17RB interleukin 17 receptor B gene DOID:630 genetic disease ISO RGD:1322830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191366 PISD phosphatidylserine decarboxylase gene DOID:630 genetic disease ISO RGD:1352965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12191366 PISD phosphatidylserine decarboxylase gene DOID:9000377 Liberfarb Syndrome ISO RGD:1352965 D RGD:7240710 20200708 OMIM 12191366 PISD phosphatidylserine decarboxylase gene DOID:9000377 Liberfarb Syndrome ISO RGD:1352965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Liberfarb syndrome | ClinVar Annotator: match by term: PISD-related mitochondrial disease PMID:25741868|PMID:28492532|PMID:30488656|PMID:30858161|PMID:31263216|PMID:3561949 12191366 PISD phosphatidylserine decarboxylase gene DOID:9007491 Childhood Schizophrenia ISO RGD:1352965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 12191399 GK2 glycerol kinase 2 gene DOID:630 genetic disease ISO RGD:1353777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191399 GK2 glycerol kinase 2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1353777 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12191404 ACVR1 activin A receptor type 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1344480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12191404 ACVR1 activin A receptor type 1 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:734161 D RGD:9068941 20230427 RGD PMID:22536403|REF_RGD_ID:329337340 12191404 ACVR1 activin A receptor type 1 gene DOID:1070 primary open angle glaucoma ISO RGD:1344480 D RGD:9068941 20230427 RGD DNA:SNP:3'utr: (rs12997) PMID:33443061|REF_RGD_ID:329328928 12191404 ACVR1 activin A receptor type 1 gene DOID:13374 fibrodysplasia ossificans progressiva ISO RGD:1344480 D RGD:7240710 20190508 OMIM 12191404 ACVR1 activin A receptor type 1 gene DOID:13374 fibrodysplasia ossificans progressiva ISO RGD:1344480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myositis ossificans PMID:10441661|PMID:16642017|PMID:17077940|PMID:17272450|PMID:17351709|PMID:17576681|PMID:18203193|PMID:18684712|PMID:18830232|PMID:18952055|PMID:19085907|PMID:19330033|PMID:21044902|PMID:21377447|PMID:21525719|PMID:21567927|PMID:22351757|PMID:22508565|PMID:22977237|PMID:23302548|PMID:23653868|PMID:24051199|PMID:24259422|PMID:24705251|PMID:25326637|PMID:25741868|PMID:26058333|PMID:26619011|PMID:28492532|PMID:29482508|PMID:30379592|PMID:35511419|PMID:5033743|PMID:7068725|PMID:818090|PMID:9536098 12191404 ACVR1 activin A receptor type 1 gene DOID:1657 ventricular septal defect ISO RGD:734161 D RGD:9068941 20230427 RGD PMID:22536403|REF_RGD_ID:329337340 12191404 ACVR1 activin A receptor type 1 gene DOID:1682 congenital heart disease ISO RGD:734161 D RGD:9068941 20230427 RGD PMID:24680892|REF_RGD_ID:329328929 12191404 ACVR1 activin A receptor type 1 gene DOID:1793 pancreatic cancer ISO RGD:1344480 D RGD:9068941 20200609 RGD PMID:9714055|REF_RGD_ID:2317217 12191404 ACVR1 activin A receptor type 1 gene DOID:3069 malignant astrocytoma ISO RGD:1344480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24705250 12191404 ACVR1 activin A receptor type 1 gene DOID:3070 high grade glioma ISO RGD:1344480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:19085907|PMID:19330033|PMID:22977237|PMID:24705250|PMID:24705254|PMID:25326637|PMID:25741868|PMID:26619011|PMID:31779674|PMID:7068725|PMID:818090 12191404 ACVR1 activin A receptor type 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:1344480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:25326637|PMID:26619011 12191404 ACVR1 activin A receptor type 1 gene DOID:630 genetic disease ISO RGD:1344480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16642017|PMID:17077940|PMID:17272450|PMID:17351709|PMID:18684712|PMID:18830232|PMID:19085907|PMID:19330033|PMID:21525719|PMID:22351757|PMID:22508565|PMID:22977237|PMID:23302548|PMID:23653868|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29482508|PMID:30379592|PMID:35511419|PMID:5033743|PMID:7068725|PMID:818090 12191404 ACVR1 activin A receptor type 1 gene DOID:668 myositis ossificans ISO RGD:1344480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12191404 ACVR1 activin A receptor type 1 gene DOID:83 cataract ISO RGD:734161 D RGD:9068941 20230429 RGD PMID:21504908|REF_RGD_ID:8547757 12191404 ACVR1 activin A receptor type 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:620200 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:kidney PMID:11675415|REF_RGD_ID:2313802 12191404 ACVR1 activin A receptor type 1 gene DOID:9004059 Eye Neoplasms ISO RGD:734161 D RGD:9068941 20230429 RGD PMID:21504908|REF_RGD_ID:8547757 12191404 ACVR1 activin A receptor type 1 gene DOID:9004158 diffuse intrinsic pontine glioma ISO RGD:1344480 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma PMID:24705250|PMID:24705254|PMID:26619011|PMID:31779674 12191404 ACVR1 activin A receptor type 1 gene DOID:9004610 Acute Lung Injury ISO RGD:1344480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297076 12191404 ACVR1 activin A receptor type 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1344480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23180569 12191425 NIP7 nucleolar pre-rRNA processing protein NIP7 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:732109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12191425 NIP7 nucleolar pre-rRNA processing protein NIP7 gene DOID:630 genetic disease ISO RGD:732109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191434 SMG1 SMG1 nonsense mediated mRNA decay associated PI3K related kinase gene DOID:630 genetic disease ISO RGD:1602127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191505 PGAP6 post-GPI attachment to proteins 6 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1322834 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12191505 PGAP6 post-GPI attachment to proteins 6 gene DOID:1826 epilepsy ISO RGD:1322834 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 12191505 PGAP6 post-GPI attachment to proteins 6 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1322834 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12191505 PGAP6 post-GPI attachment to proteins 6 gene DOID:630 genetic disease ISO RGD:1322834 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191521 TAOK1 TAO kinase 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1351422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 12191521 TAOK1 TAO kinase 1 gene DOID:630 genetic disease ISO RGD:1351422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:31230721|PMID:33565190|PMID:7768349 12191521 TAOK1 TAO kinase 1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1351422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 12191521 TAOK1 TAO kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351422 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:31230721 12191521 TAOK1 TAO kinase 1 gene DOID:9005813 DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES ISO RGD:1351422 D RGD:7240710 20211215 OMIM 12191521 TAOK1 TAO kinase 1 gene DOID:9005813 DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES ISO RGD:1351422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with or without intellectual impairment or behavioral abnormalities PMID:25741868|PMID:31230721|PMID:33565190|PMID:7768349 12191521 TAOK1 TAO kinase 1 gene DOID:9007817 Macroglossia ISO RGD:1351422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macroglossia PMID:25741868 12191521 TAOK1 TAO kinase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1351422 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33565190 12191521 TAOK1 TAO kinase 1 gene DOID:9008363 GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT ISO RGD:1351422 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay with or without impaired intellectual development PMID:25741868 12191547 DOLK dolichol kinase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12191547 DOLK dolichol kinase gene DOID:0080565 congenital disorder of glycosylation Im ISO RGD:1321943 D RGD:7240710 20190315 OMIM 12191547 DOLK dolichol kinase gene DOID:0080565 congenital disorder of glycosylation Im ISO RGD:1321943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CDG Im | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M | ClinVar Annotator: match by term: DOLICHOL KINASE DEFICIENCY | ClinVar Annotator: match by term: DOLK-congenital disorder of glycosylation PMID:17273964|PMID:22242004|PMID:23806237|PMID:23890587|PMID:24033266|PMID:24144945|PMID:25188385|PMID:25741868|PMID:25819062|PMID:26257771|PMID:26633542|PMID:27212206|PMID:28074886|PMID:28492532|PMID:28816422|PMID:28818208|PMID:28820871|PMID:30653653|PMID:30775854|PMID:31983221|PMID:32250540|PMID:34956305 12191547 DOLK dolichol kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:1321943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 12191547 DOLK dolichol kinase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1321943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 12191547 DOLK dolichol kinase gene DOID:630 genetic disease ISO RGD:1321943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12191553 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:0014667 disease of metabolism susceptibility ISO RGD:735913 D RGD:9068941 20200609 RGD familial hypercholanemia, OMIM:607748;DNA:transition: :226A>G (human) PMID:12704386|REF_RGD_ID:734629 12191553 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735913 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:17182750|PMID:20301541 12191553 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:1059 intellectual disability ISO RGD:735913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12191553 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:735913 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 12191553 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:630 genetic disease ISO RGD:735913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191553 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:9004162 BILE ACID CONJUGATION DEFECT 1 ISO RGD:735913 D RGD:7240710 20210512 OMIM 12191553 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:9004162 BILE ACID CONJUGATION DEFECT 1 ISO RGD:735913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bile acid conjugation defect 1 PMID:12704386|PMID:23415802|PMID:25741868|PMID:28492532 12191553 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:9004484 Sepsis ISO RGD:2190 D RGD:9068941 20200609 RGD PMID:7575455|REF_RGD_ID:69770 12191553 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:9005961 Familial Hypercholanemia 1 ISO RGD:735913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial 1 PMID:17495420|PMID:24033266|PMID:25741868|PMID:28492532 12191553 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:9007118 Familial Hypercholanemia ISO RGD:735913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial 12191553 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:735913 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532 12191571 SLC25A31 solute carrier family 25 member 31 gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1606496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:19177532|PMID:28492532 12191571 SLC25A31 solute carrier family 25 member 31 gene DOID:630 genetic disease ISO RGD:1606496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191581 BICD2 BICD cargo adaptor 2 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1352041 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 12191581 BICD2 BICD cargo adaptor 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1352041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12191581 BICD2 BICD cargo adaptor 2 gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1352041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 12191581 BICD2 BICD cargo adaptor 2 gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1352041 D RGD:7240710 20180130 OMIM 12191581 BICD2 BICD cargo adaptor 2 gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1352041 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:17576681|PMID:22628388|PMID:23664116|PMID:23664119|PMID:23664120|PMID:24336790|PMID:25326635|PMID:25497877|PMID:25741868|PMID:25802885|PMID:26467025|PMID:26752647|PMID:26998597|PMID:27549087|PMID:27751653|PMID:27784775|PMID:28251916|PMID:28335620|PMID:28492532|PMID:28635954|PMID:28832565|PMID:28883039|PMID:29273277|PMID:29528393|PMID:30373780|PMID:31561939|PMID:32056343|PMID:32057122|PMID:32581362|PMID:33060286|PMID:8114789|PMID:9536098|PMID:9713859 12191581 BICD2 BICD cargo adaptor 2 gene DOID:0070350 spinal muscular atrophy with predominant lower extremity 2B ISO RGD:1352041 D RGD:7240710 20200325 OMIM 12191581 BICD2 BICD cargo adaptor 2 gene DOID:0070350 spinal muscular atrophy with predominant lower extremity 2B ISO RGD:1352041 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant PMID:25741868|PMID:27751653|PMID:28492532|PMID:28635954|PMID:30054298 12191581 BICD2 BICD cargo adaptor 2 gene DOID:0070351 spinal muscular atrophy with predominant lower extremity 1 ISO RGD:1352041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant PMID:28492532 12191581 BICD2 BICD cargo adaptor 2 gene DOID:0080000 muscular disease ISO RGD:1352041 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:24336790|PMID:25741868|PMID:28492532|PMID:32581362 12191581 BICD2 BICD cargo adaptor 2 gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1352041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy PMID:22628388|PMID:23664116|PMID:23664119|PMID:23664120|PMID:24336790|PMID:25497877|PMID:25741868|PMID:26467025|PMID:27549087|PMID:27784775|PMID:28251916|PMID:28492532|PMID:28832565|PMID:32581362|PMID:8114789 12191581 BICD2 BICD cargo adaptor 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1352041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25802885|PMID:28492532 12191581 BICD2 BICD cargo adaptor 2 gene DOID:12377 spinal muscular atrophy ISO RGD:1352041 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy PMID:22628388|PMID:23664116|PMID:23664119|PMID:23664120|PMID:25497877|PMID:25741868|PMID:27784775|PMID:28251916|PMID:28492532|PMID:8114789 12191581 BICD2 BICD cargo adaptor 2 gene DOID:1826 epilepsy ISO RGD:1352041 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:30054298 12191581 BICD2 BICD cargo adaptor 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1352041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:23664116|PMID:25741868|PMID:26467025|PMID:27549087|PMID:28492532|PMID:28832565 12191581 BICD2 BICD cargo adaptor 2 gene DOID:423 myopathy ISO RGD:1352041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:24336790|PMID:25741868|PMID:28492532|PMID:32581362 12191581 BICD2 BICD cargo adaptor 2 gene DOID:607 paraplegia ISO RGD:1352041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:26998597|PMID:28492532 12191581 BICD2 BICD cargo adaptor 2 gene DOID:630 genetic disease ISO RGD:1352041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23664116|PMID:23664120|PMID:25741868|PMID:25802885|PMID:26467025|PMID:26752647|PMID:26998597|PMID:27549087|PMID:27751653|PMID:27784775|PMID:28335620|PMID:28492532|PMID:28635954|PMID:28832565|PMID:29528393|PMID:30054298|PMID:30373780|PMID:32056343|PMID:9536098|PMID:9713859 12191581 BICD2 BICD cargo adaptor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352041 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12191581 BICD2 BICD cargo adaptor 2 gene DOID:9005324 Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration ISO RGD:1352041 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION PMID:25741868|PMID:28492532 12191596 ZNF628 zinc finger protein 628 gene DOID:630 genetic disease ISO RGD:1606755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191607 ZNF846 zinc finger protein 846 gene DOID:12849 autistic disorder ISO RGD:36947464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12191607 ZNF846 zinc finger protein 846 gene DOID:630 genetic disease ISO RGD:36947464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191624 GUCD1 guanylyl cyclase domain containing 1 gene DOID:1826 epilepsy ISO RGD:1353154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12191624 GUCD1 guanylyl cyclase domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1353154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12191624 GUCD1 guanylyl cyclase domain containing 1 gene DOID:630 genetic disease ISO RGD:1353154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191624 GUCD1 guanylyl cyclase domain containing 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 12191639 CALCRL calcitonin receptor like receptor gene DOID:0080600 COVID-19 ISO RGD:733108 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12191639 CALCRL calcitonin receptor like receptor gene DOID:3042 allergic contact dermatitis ISO RGD:733108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 12191639 CALCRL calcitonin receptor like receptor gene DOID:630 genetic disease ISO RGD:733108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191639 CALCRL calcitonin receptor like receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12191639 CALCRL calcitonin receptor like receptor gene DOID:9006957 Lymphatic Malformation 8 ISO RGD:733108 D RGD:7240710 20200226 OMIM 12191639 CALCRL calcitonin receptor like receptor gene DOID:9006957 Lymphatic Malformation 8 ISO RGD:733108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 8 PMID:25741868 12191659 PLSCR3 phospholipid scramblase 3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1315960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12191659 PLSCR3 phospholipid scramblase 3 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1315960 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12191659 PLSCR3 phospholipid scramblase 3 gene DOID:1059 intellectual disability ISO RGD:1315960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12191659 PLSCR3 phospholipid scramblase 3 gene DOID:12177 common variable immunodeficiency ISO RGD:1315960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12191659 PLSCR3 phospholipid scramblase 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1315960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12191659 PLSCR3 phospholipid scramblase 3 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1315960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12191659 PLSCR3 phospholipid scramblase 3 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1315960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12191659 PLSCR3 phospholipid scramblase 3 gene DOID:630 genetic disease ISO RGD:1315960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191659 PLSCR3 phospholipid scramblase 3 gene DOID:9970 obesity ISO RGD:1315961 D RGD:9068941 20220825 MouseDO OMIM:601665 12191668 RIPOR1 RHO family interacting cell polarization regulator 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1606508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12191668 RIPOR1 RHO family interacting cell polarization regulator 1 gene DOID:630 genetic disease ISO RGD:1606508 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191694 MAEL maelstrom spermatogenic transposon silencer gene DOID:1540 parathyroid carcinoma ISO RGD:1605917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12191694 MAEL maelstrom spermatogenic transposon silencer gene DOID:630 genetic disease ISO RGD:1605917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191694 MAEL maelstrom spermatogenic transposon silencer gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12191718 GAREM1 GRB2 associated regulator of MAPK1 subtype 1 gene DOID:1059 intellectual disability ISO RGD:1342843 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12191718 GAREM1 GRB2 associated regulator of MAPK1 subtype 1 gene DOID:630 genetic disease ISO RGD:1342843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191730 ABCD4 ATP binding cassette subfamily D member 4 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1316370 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:22922874|PMID:23141461|PMID:25234635|PMID:28492532|PMID:28572511|PMID:30651581|PMID:33729671|PMID:33845046 12191730 ABCD4 ATP binding cassette subfamily D member 4 gene DOID:0050731 vitamin B12 deficiency ISO RGD:1316370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22922874 12191730 ABCD4 ATP binding cassette subfamily D member 4 gene DOID:1059 intellectual disability ISO RGD:1316370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12191730 ABCD4 ATP binding cassette subfamily D member 4 gene DOID:630 genetic disease ISO RGD:1316370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12191730 ABCD4 ATP binding cassette subfamily D member 4 gene DOID:655 inherited metabolic disorder ISO RGD:1316370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22922874 12191730 ABCD4 ATP binding cassette subfamily D member 4 gene DOID:9000918 Disease Progression ISO RGD:1316370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12191730 ABCD4 ATP binding cassette subfamily D member 4 gene DOID:9005863 Methylmalonic Aciduria and Homocystinuria, cblJ Type ISO RGD:1316370 D RGD:7240710 20180130 OMIM 12191730 ABCD4 ATP binding cassette subfamily D member 4 gene DOID:9005863 Methylmalonic Aciduria and Homocystinuria, cblJ Type ISO RGD:1316370 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE PMID:16199547|PMID:17576681|PMID:22922874|PMID:25741868|PMID:28492532|PMID:30293248|PMID:33845046|PMID:9536098 12191730 ABCD4 ATP binding cassette subfamily D member 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12191759 PSMD3 proteasome 26S subunit, non-ATPase 3 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1322945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 12191759 PSMD3 proteasome 26S subunit, non-ATPase 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1322945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12191759 PSMD3 proteasome 26S subunit, non-ATPase 3 gene DOID:630 genetic disease ISO RGD:1322945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191775 ZC3H12B zinc finger CCCH-type containing 12B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1601698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12191775 ZC3H12B zinc finger CCCH-type containing 12B gene DOID:0060814 Wilson-Turner syndrome ISO RGD:1601698 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wilson-Turner syndrome 12191775 ZC3H12B zinc finger CCCH-type containing 12B gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1601698 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:9383023 12191775 ZC3H12B zinc finger CCCH-type containing 12B gene DOID:12849 autistic disorder ISO RGD:1601698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12191775 ZC3H12B zinc finger CCCH-type containing 12B gene DOID:630 genetic disease ISO RGD:1601698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12191775 ZC3H12B zinc finger CCCH-type containing 12B gene DOID:9008262 WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED ISO RGD:1601698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted PMID:25741868 12191791 ASIP agouti signaling protein gene DOID:0080177 hepatic veno-occlusive disease ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 12191791 ASIP agouti signaling protein gene DOID:10123 pigmentation disease ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32937126|PMID:8146154 12191791 ASIP agouti signaling protein gene DOID:14566 disease of cellular proliferation ISO RGD:69200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1473152 12191791 ASIP agouti signaling protein gene DOID:161 keratosis ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 12191791 ASIP agouti signaling protein gene DOID:1909 melanoma ISO RGD:69199 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488027|PMID:18641652|PMID:21983785 12191791 ASIP agouti signaling protein gene DOID:2513 basal cell carcinoma ISO RGD:69199 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488027 12191791 ASIP agouti signaling protein gene DOID:2723 dermatitis ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 12191791 ASIP agouti signaling protein gene DOID:2843 long QT syndrome ISO RGD:69199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12191791 ASIP agouti signaling protein gene DOID:630 genetic disease ISO RGD:69199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191791 ASIP agouti signaling protein gene DOID:9000197 Edema ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 12191791 ASIP agouti signaling protein gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 12191791 ASIP agouti signaling protein gene DOID:9001276 Failure to Thrive ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 12191791 ASIP agouti signaling protein gene DOID:9002053 Furunculosis ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 12191791 ASIP agouti signaling protein gene DOID:9002221 Hyperplasia ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 12191791 ASIP agouti signaling protein gene DOID:9004464 Skin Neoplasms ISO RGD:69199 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488027 12191791 ASIP agouti signaling protein gene DOID:9007188 Liver Neoplasms ISO RGD:69200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15175105 12191791 ASIP agouti signaling protein gene DOID:9008294 Skin/Hair/Eye Pigmentation, Variation In, 9 ISO RGD:69199 D RGD:7240710 20221214 OMIM 12191791 ASIP agouti signaling protein gene DOID:9008294 Skin/Hair/Eye Pigmentation, Variation In, 9 ISO RGD:69199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR PMID:11833005|PMID:18488028 12191791 ASIP agouti signaling protein gene DOID:9351 diabetes mellitus ISO RGD:69200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1473152 12191791 ASIP agouti signaling protein gene DOID:9351 diabetes mellitus ISO RGD:69200 D RGD:9068941 20200609 RGD associated with Obesity;DNA:mutation (mouse) PMID:10426381|REF_RGD_ID:2314006 12191791 ASIP agouti signaling protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:69199 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue PMID:14633851|REF_RGD_ID:2313999 12191791 ASIP agouti signaling protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:69200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8146154 12191791 ASIP agouti signaling protein gene DOID:9970 obesity ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:1473152|PMID:25447408|PMID:25448685|PMID:32937126|PMID:8146154 12191791 ASIP agouti signaling protein gene DOID:9970 obesity susceptibility ISO RGD:69200 D RGD:9068941 20200609 RGD DNA, mRNA:deletion, insertions, increased expression: multiple organs PMID:7987393|REF_RGD_ID:1625724 12191807 FAM131C family with sequence similarity 131 member C gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606908 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12191807 FAM131C family with sequence similarity 131 member C gene DOID:630 genetic disease ISO RGD:1606908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191821 SOX1 SRY-box transcription factor 1 gene DOID:2222 factor X deficiency ISO RGD:1348976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12191821 SOX1 SRY-box transcription factor 1 gene DOID:630 genetic disease ISO RGD:1348976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191826 TMEM63B transmembrane protein 63B gene DOID:630 genetic disease ISO RGD:1314147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191865 APOBEC4 apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1606067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12191865 APOBEC4 apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4 gene DOID:630 genetic disease ISO RGD:1606067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191865 APOBEC4 apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12191875 VIPR2 vasoactive intestinal peptide receptor 2 gene DOID:0060180 colitis ISO RGD:737317 D RGD:9068941 20200609 RGD PMID:21295288|REF_RGD_ID:5685384 12191875 VIPR2 vasoactive intestinal peptide receptor 2 gene DOID:12849 autistic disorder ISO RGD:1351062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12191875 VIPR2 vasoactive intestinal peptide receptor 2 gene DOID:2661 myoepithelioma ISO RGD:1351062 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12191875 VIPR2 vasoactive intestinal peptide receptor 2 gene DOID:5419 schizophrenia ISO RGD:1351062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12191875 VIPR2 vasoactive intestinal peptide receptor 2 gene DOID:630 genetic disease ISO RGD:1351062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191892 PLD4 phospholipase D family member 4 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1347934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12191892 PLD4 phospholipase D family member 4 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1347934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 12191892 PLD4 phospholipase D family member 4 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1347934 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 12191892 PLD4 phospholipase D family member 4 gene DOID:630 genetic disease ISO RGD:1347934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191892 PLD4 phospholipase D family member 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1347934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 12191892 PLD4 phospholipase D family member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12191892 PLD4 phospholipase D family member 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:1557943 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12191911 KRT75 keratin 75 gene DOID:630 genetic disease ISO RGD:1603409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191911 KRT75 keratin 75 gene DOID:9006643 Pseudofolliculitis Barbae ISO RGD:1603409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudofolliculitis barbae PMID:15086549 12191911 KRT75 keratin 75 gene DOID:9006643 Pseudofolliculitis Barbae susceptibility ISO RGD:1603409 D RGD:7240710 20190502 OMIM 12191926 OR8K87 olfactory receptor family 8 subfamily K member 87 gene DOID:10283 prostate cancer ISO RGD:1342730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12191926 OR8K87 olfactory receptor family 8 subfamily K member 87 gene DOID:1059 intellectual disability ISO RGD:1342730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12191926 OR8K87 olfactory receptor family 8 subfamily K member 87 gene DOID:630 genetic disease ISO RGD:1342730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191929 NIPAL3 NIPA like domain containing 3 gene DOID:630 genetic disease ISO RGD:1603619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12191929 NIPAL3 NIPA like domain containing 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1603619 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17173048 12191929 NIPAL3 NIPA like domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12191949 LIPH lipase H gene DOID:0110698 hypotrichosis 1 ISO RGD:1320902 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypotrichosis simplex PMID:18830268|PMID:19892526|PMID:20213768|PMID:21352330|PMID:22449147|PMID:23590372|PMID:24033266|PMID:24722066|PMID:25201209|PMID:25271093|PMID:25741868|PMID:25899282 12191949 LIPH lipase H gene DOID:0110704 hypotrichosis 7 ISO RGD:1320902 D RGD:7240710 20180130 OMIM 12191949 LIPH lipase H gene DOID:0110704 hypotrichosis 7 ISO RGD:1320902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypotrichosis 7 PMID:17095700|PMID:17333281|PMID:18445047|PMID:18830268|PMID:19365138|PMID:19892526|PMID:20213768|PMID:21352330|PMID:21426374|PMID:22449147|PMID:23590372|PMID:24033266|PMID:24722066|PMID:25201209|PMID:25271093|PMID:25741868|PMID:25899282|PMID:28492532 12191949 LIPH lipase H gene DOID:0111546 Currarino syndrome ISO RGD:1320902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12191949 LIPH lipase H gene DOID:0111572 familial woolly hair syndrome ISO RGD:1320902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23066499 12191949 LIPH lipase H gene DOID:4535 hypotrichosis ISO RGD:1320902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Woolly hair, autosomal recessive 2, with or without hypotrichosis PMID:17333281|PMID:18445047|PMID:18830268|PMID:19365138|PMID:19892526|PMID:20213768|PMID:21352330|PMID:21426374|PMID:22449147|PMID:23590372|PMID:24033266|PMID:24722066|PMID:25201209|PMID:25271093|PMID:25741868|PMID:25899282|PMID:28492532 12191949 LIPH lipase H gene DOID:630 genetic disease ISO RGD:1320902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12192047 PURB purine rich element binding protein B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12192047 PURB purine rich element binding protein B gene DOID:630 genetic disease ISO RGD:1353565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192059 IL1B interleukin 1 beta gene DOID:0050127 sinusitis ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Hypersensitivity PMID:16358839|REF_RGD_ID:4143214 12192059 IL1B interleukin 1 beta gene DOID:0050700 cardiomyopathy ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12192059 IL1B interleukin 1 beta gene DOID:0050848 obstructive sleep apnea ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:19342292|REF_RGD_ID:4142845 12192059 IL1B interleukin 1 beta gene DOID:0050848 obstructive sleep apnea ISO RGD:730981 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:20040038|REF_RGD_ID:4142829 12192059 IL1B interleukin 1 beta gene DOID:0050851 glomerulosclerosis ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Hypertension PMID:19948880|REF_RGD_ID:7175503 12192059 IL1B interleukin 1 beta gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:2891 D RGD:9068941 20220715 RGD associated with social isolation;protein:increased expression:tongue (rat) PMID:33411841|REF_RGD_ID:152998999 12192059 IL1B interleukin 1 beta gene DOID:0050908 myelodysplastic syndrome ISO RGD:730981 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow PMID:10697556|REF_RGD_ID:10450881 12192059 IL1B interleukin 1 beta gene DOID:0060180 colitis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22969190|REF_RGD_ID:7204699 12192059 IL1B interleukin 1 beta gene DOID:0060180 colitis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23810507|PMID:24548422 12192059 IL1B interleukin 1 beta gene DOID:0060496 respiratory allergy ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:12663678|REF_RGD_ID:4143222 12192059 IL1B interleukin 1 beta gene DOID:0080000 muscular disease ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9184656 12192059 IL1B interleukin 1 beta gene DOID:0080158 herpes simplex virus keratitis ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA:increased expression:cornea PMID:10624423|REF_RGD_ID:7401196 12192059 IL1B interleukin 1 beta gene DOID:0080162 lupus nephritis ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:21641991|REF_RGD_ID:7175315 12192059 IL1B interleukin 1 beta gene DOID:0080162 lupus nephritis ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (mouse) PMID:20410215|REF_RGD_ID:7175344 12192059 IL1B interleukin 1 beta gene DOID:0080178 mucositis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22984629|REF_RGD_ID:7204497 12192059 IL1B interleukin 1 beta gene DOID:0080178 mucositis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20844880 12192059 IL1B interleukin 1 beta gene DOID:0080178 mucositis treatment ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:30987265|REF_RGD_ID:14975283 12192059 IL1B interleukin 1 beta gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNPs:CDS:rs1143634 (human) PMID:27730688|REF_RGD_ID:14975293 12192059 IL1B interleukin 1 beta gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:730981 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32613381 12192059 IL1B interleukin 1 beta gene DOID:0080208 non-alcoholic fatty liver disease no_association ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNPs:CDS:rs16944 (human) PMID:27730688|REF_RGD_ID:14975293 12192059 IL1B interleukin 1 beta gene DOID:0080519 PAPA syndrome ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 12192059 IL1B interleukin 1 beta gene DOID:0080547 non-alcoholic steatohepatitis ameliorates ISO RGD:10790 D RGD:9068941 20210702 RGD PMID:28100771|REF_RGD_ID:127285675 12192059 IL1B interleukin 1 beta gene DOID:0080600 COVID-19 ISO RGD:730981 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12192059 IL1B interleukin 1 beta gene DOID:0080600 COVID-19 ISO RGD:730981 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12192059 IL1B interleukin 1 beta gene DOID:0080600 COVID-19 ISO RGD:730981 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:32171193 12192059 IL1B interleukin 1 beta gene DOID:0080600 COVID-19 severity ISO RGD:730981 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 12192059 IL1B interleukin 1 beta gene DOID:0080642 Middle East respiratory syndrome ISO RGD:10790 D RGD:9068941 20200618 RGD PMID:30626685|REF_RGD_ID:30309198 12192059 IL1B interleukin 1 beta gene DOID:0080642 Middle East respiratory syndrome onset ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 12192059 IL1B interleukin 1 beta gene DOID:0080642 Middle East respiratory syndrome treatment ISO RGD:10790 D RGD:9068941 20200625 RGD PMID:30634407|REF_RGD_ID:30309958 12192059 IL1B interleukin 1 beta gene DOID:0080744 antisynthetase syndrome ISO RGD:730981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Antisynthetase syndrome 12192059 IL1B interleukin 1 beta gene DOID:0080745 polymyositis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12192059 IL1B interleukin 1 beta gene DOID:0080784 urinary tract infection ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:20886104|REF_RGD_ID:7175340 12192059 IL1B interleukin 1 beta gene DOID:0080784 urinary tract infection ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:19171043|REF_RGD_ID:2311084 12192059 IL1B interleukin 1 beta gene DOID:0080855 Parkinsonism ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:hypothalamus PMID:17520785|REF_RGD_ID:1626658 12192059 IL1B interleukin 1 beta gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:peritoneal macrophages (rat) PMID:22964727|REF_RGD_ID:7204517 12192059 IL1B interleukin 1 beta gene DOID:0081292 traumatic brain injury ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28642177 12192059 IL1B interleukin 1 beta gene DOID:10126 keratoconus ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:-31T>C (rs1143627), -511C>T (rs16944) (human) PMID:23592922|REF_RGD_ID:7401165 12192059 IL1B interleukin 1 beta gene DOID:10140 dry eye syndrome ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:rs1143634 (human) PMID:22128229|REF_RGD_ID:7401190 12192059 IL1B interleukin 1 beta gene DOID:10140 dry eye syndrome no_association ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:rs16944, rs1143627 (human) PMID:22128229|REF_RGD_ID:7401190 12192059 IL1B interleukin 1 beta gene DOID:10223 dermatomyositis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19035492 12192059 IL1B interleukin 1 beta gene DOID:10241 thalassemia ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11732868|REF_RGD_ID:10450569 12192059 IL1B interleukin 1 beta gene DOID:10247 pleurisy ISO RGD:10790 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20175894|REF_RGD_ID:4142826 12192059 IL1B interleukin 1 beta gene DOID:10247 pleurisy ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:20141620|REF_RGD_ID:4142808 12192059 IL1B interleukin 1 beta gene DOID:10247 pleurisy ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:pleural cavity, exudate (rat) PMID:21898269|REF_RGD_ID:7175307 12192059 IL1B interleukin 1 beta gene DOID:10247 pleurisy ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422 12192059 IL1B interleukin 1 beta gene DOID:10320 asbestosis ISO RGD:730981 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:8473757 12192059 IL1B interleukin 1 beta gene DOID:10325 silicosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23640035 12192059 IL1B interleukin 1 beta gene DOID:10327 anthracosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20005085 12192059 IL1B interleukin 1 beta gene DOID:10459 common cold ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus PMID:7734976|REF_RGD_ID:7401200 12192059 IL1B interleukin 1 beta gene DOID:10533 viral pneumonia ISO RGD:730981 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12192059 IL1B interleukin 1 beta gene DOID:10534 stomach cancer ISO RGD:730981 D RGD:7240710 20220209 OMIM 12192059 IL1B interleukin 1 beta gene DOID:10534 stomach cancer susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-31T>C (human) PMID:21653279|REF_RGD_ID:7401222 12192059 IL1B interleukin 1 beta gene DOID:106 pleural tuberculosis ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism: :3953T>C (human) PMID:10377182|REF_RGD_ID:4143226 12192059 IL1B interleukin 1 beta gene DOID:10652 Alzheimer's disease ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22963993|REF_RGD_ID:7204700 12192059 IL1B interleukin 1 beta gene DOID:10652 Alzheimer's disease ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18675847 12192059 IL1B interleukin 1 beta gene DOID:10652 Alzheimer's disease ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP: :rs1143634 (human) PMID:18830724|REF_RGD_ID:13792820 12192059 IL1B interleukin 1 beta gene DOID:10652 Alzheimer's disease ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-31T>C (human) PMID:24022074|PMID:26937653|REF_RGD_ID:11522340|REF_RGD_ID:13792818 12192059 IL1B interleukin 1 beta gene DOID:10652 Alzheimer's disease no_association ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP: :rs1143634 (human) PMID:18830724|PMID:20413850|REF_RGD_ID:13792820|REF_RGD_ID:13793381 12192059 IL1B interleukin 1 beta gene DOID:10652 Alzheimer's disease onset ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16600299|REF_RGD_ID:1626633 12192059 IL1B interleukin 1 beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:29447949|REF_RGD_ID:13792816 12192059 IL1B interleukin 1 beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23378761|REF_RGD_ID:13792819 12192059 IL1B interleukin 1 beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:24874542|REF_RGD_ID:13792817 12192059 IL1B interleukin 1 beta gene DOID:1074 kidney failure ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (mouse) PMID:21907489|REF_RGD_ID:7175305 12192059 IL1B interleukin 1 beta gene DOID:1074 kidney failure ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:20722564|REF_RGD_ID:7175345 12192059 IL1B interleukin 1 beta gene DOID:10754 otitis media ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22173336|REF_RGD_ID:7401215 12192059 IL1B interleukin 1 beta gene DOID:10754 otitis media ISO RGD:8999086 D RGD:9068941 20200609 RGD PMID:10085040|REF_RGD_ID:11553900 12192059 IL1B interleukin 1 beta gene DOID:10762 portal hypertension ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15951934|REF_RGD_ID:1626634 12192059 IL1B interleukin 1 beta gene DOID:10763 hypertension ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:21173343|REF_RGD_ID:7175338 12192059 IL1B interleukin 1 beta gene DOID:10763 hypertension ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta, plasma PMID:15894892|REF_RGD_ID:1626635 12192059 IL1B interleukin 1 beta gene DOID:10763 hypertension ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased expression:plasma PMID:15990729|REF_RGD_ID:1626638 12192059 IL1B interleukin 1 beta gene DOID:10763 hypertension ISO RGD:730981 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:27292124|PMID:27659729|PMID:27847271|PMID:32147540|PMID:32165127 12192059 IL1B interleukin 1 beta gene DOID:10808 gastric ulcer ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11376495 12192059 IL1B interleukin 1 beta gene DOID:10825 essential hypertension ISO RGD:730981 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 12192059 IL1B interleukin 1 beta gene DOID:10976 membranous glomerulonephritis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:20588061|REF_RGD_ID:7175342 12192059 IL1B interleukin 1 beta gene DOID:10983 Alport syndrome ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:22937108|REF_RGD_ID:7175090 12192059 IL1B interleukin 1 beta gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:730981 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder tumor (human) PMID:21308147|REF_RGD_ID:7175327 12192059 IL1B interleukin 1 beta gene DOID:11111 hydronephrosis ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:renal inner medulla, urine (rat) PMID:22150692|REF_RGD_ID:7175264 12192059 IL1B interleukin 1 beta gene DOID:11204 allergic conjunctivitis treatment ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:9326725|REF_RGD_ID:7401198 12192059 IL1B interleukin 1 beta gene DOID:11394 adult respiratory distress syndrome ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:18065658|REF_RGD_ID:4142869 12192059 IL1B interleukin 1 beta gene DOID:11394 adult respiratory distress syndrome disease_progression ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:bronchioalveolar lavage fluid (human) PMID:8810593|REF_RGD_ID:4143190 12192059 IL1B interleukin 1 beta gene DOID:11396 pulmonary edema ISO RGD:10790 D RGD:9068941 20200609 RGD associated with Subarachnoid Hemorrhage;protein:increased expression:lung PMID:19875734|REF_RGD_ID:4142817 12192059 IL1B interleukin 1 beta gene DOID:11446 sciatic neuropathy treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22173123|REF_RGD_ID:7364836 12192059 IL1B interleukin 1 beta gene DOID:11476 osteoporosis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22997530|REF_RGD_ID:7204491 12192059 IL1B interleukin 1 beta gene DOID:11650 bronchopulmonary dysplasia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16813970 12192059 IL1B interleukin 1 beta gene DOID:11650 bronchopulmonary dysplasia ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15539764|REF_RGD_ID:4143172 12192059 IL1B interleukin 1 beta gene DOID:11832 visual epilepsy ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:16886979|REF_RGD_ID:2315919 12192059 IL1B interleukin 1 beta gene DOID:1184 nephrotic syndrome ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:21359962|REF_RGD_ID:7175324 12192059 IL1B interleukin 1 beta gene DOID:1184 nephrotic syndrome ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21103916|REF_RGD_ID:7175339 12192059 IL1B interleukin 1 beta gene DOID:1184 nephrotic syndrome severity ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Purpura, Schoenlein-Henoch; DNA:snp:promoter:g.-511C>T (human) PMID:14760799|REF_RGD_ID:7175337 12192059 IL1B interleukin 1 beta gene DOID:1205 allergic disease ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12192059 IL1B interleukin 1 beta gene DOID:12098 trigeminal neuralgia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12192059 IL1B interleukin 1 beta gene DOID:1227 neutropenia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1884014 12192059 IL1B interleukin 1 beta gene DOID:12337 varicocele ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:16616101|REF_RGD_ID:2311094 12192059 IL1B interleukin 1 beta gene DOID:12361 Graves' disease ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:2674184|REF_RGD_ID:7401207 12192059 IL1B interleukin 1 beta gene DOID:12361 Graves' disease ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-511C>T (human) PMID:16025481|REF_RGD_ID:7401177 12192059 IL1B interleukin 1 beta gene DOID:12385 shigellosis treatment ISO RGD:10790 D RGD:9068941 20201022 RGD PMID:30615126|REF_RGD_ID:39938959 12192059 IL1B interleukin 1 beta gene DOID:12554 hemolytic-uremic syndrome ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15384034 12192059 IL1B interleukin 1 beta gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12192059 IL1B interleukin 1 beta gene DOID:12662 paracoccidioidomycosis treatment ISO RGD:730981 D RGD:9068941 20201015 RGD PMID:28992214|REF_RGD_ID:39938858 12192059 IL1B interleukin 1 beta gene DOID:12934 Kearns-Sayre syndrome ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12192059 IL1B interleukin 1 beta gene DOID:12987 agranulocytosis treatment ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:1331350|REF_RGD_ID:10450883 12192059 IL1B interleukin 1 beta gene DOID:13025 retinopathy of prematurity ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23113620|REF_RGD_ID:7204128 12192059 IL1B interleukin 1 beta gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:21412216|REF_RGD_ID:7175321 12192059 IL1B interleukin 1 beta gene DOID:13139 crescentic glomerulonephritis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:19959716|REF_RGD_ID:7175502 12192059 IL1B interleukin 1 beta gene DOID:13141 uveitis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:8125721|REF_RGD_ID:7401166 12192059 IL1B interleukin 1 beta gene DOID:13141 uveitis ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:1318867|REF_RGD_ID:7401178 12192059 IL1B interleukin 1 beta gene DOID:13189 gout ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26462562 12192059 IL1B interleukin 1 beta gene DOID:13241 Behcet's disease ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14600787|REF_RGD_ID:7401213 12192059 IL1B interleukin 1 beta gene DOID:13378 Kawasaki disease ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:22361326|REF_RGD_ID:6482661 12192059 IL1B interleukin 1 beta gene DOID:13378 Kawasaki disease ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:8777922|REF_RGD_ID:7401221 12192059 IL1B interleukin 1 beta gene DOID:13619 extrahepatic cholestasis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 12192059 IL1B interleukin 1 beta gene DOID:1387 hypolipoproteinemia ISO RGD:730981 D RGD:9068941 20200609 RGD mRNA:increased expression:macrophage PMID:17322100|REF_RGD_ID:1625405 12192059 IL1B interleukin 1 beta gene DOID:1389 polyneuropathy treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:29307658|REF_RGD_ID:13792836 12192059 IL1B interleukin 1 beta gene DOID:14115 toxic shock syndrome severity ISO RGD:10790 D RGD:9068941 20201211 RGD protein:increased expression:lung (mouse) PMID:28659355|REF_RGD_ID:40890272 12192059 IL1B interleukin 1 beta gene DOID:14330 Parkinson's disease ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23159314|REF_RGD_ID:7175549 12192059 IL1B interleukin 1 beta gene DOID:14330 Parkinson's disease ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:12070246|REF_RGD_ID:1358742 12192059 IL1B interleukin 1 beta gene DOID:14566 disease of cellular proliferation ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22467534 12192059 IL1B interleukin 1 beta gene DOID:1485 cystic fibrosis ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:10515411|REF_RGD_ID:4143181 12192059 IL1B interleukin 1 beta gene DOID:1485 cystic fibrosis severity ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1143634, rs1143639 (human) PMID:19431193|REF_RGD_ID:4142844 12192059 IL1B interleukin 1 beta gene DOID:1555 urticaria ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12121561 12192059 IL1B interleukin 1 beta gene DOID:1588 thrombocytopenia treatment ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:1331350|REF_RGD_ID:10450883 12192059 IL1B interleukin 1 beta gene DOID:1596 depressive disorder ISO RGD:10790 D RGD:9068941 20210507 RGD protein:increased expression:serum, hippocampus (mouse) PMID:31396300|REF_RGD_ID:126908003 12192059 IL1B interleukin 1 beta gene DOID:1596 depressive disorder ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:frontal cortex, hippocampus, hypothalamus (rat) PMID:15000880|REF_RGD_ID:1626681 12192059 IL1B interleukin 1 beta gene DOID:1596 depressive disorder ISO RGD:730981 D RGD:9068941 20210528 RGD associated with gastric adenocarcinoma; protein:increased expression:blood serum (human) PMID:31396300|REF_RGD_ID:126908003 12192059 IL1B interleukin 1 beta gene DOID:1612 breast cancer susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-31T>C (human) PMID:21653279|REF_RGD_ID:7401222 12192059 IL1B interleukin 1 beta gene DOID:1679 cystitis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23000860|REF_RGD_ID:7175333 12192059 IL1B interleukin 1 beta gene DOID:1679 cystitis ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder PMID:11948286|REF_RGD_ID:6907118 12192059 IL1B interleukin 1 beta gene DOID:1727 retinal vein occlusion ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:neuroretina, retinal pigment epithelium (rat) PMID:21487926|REF_RGD_ID:5490120 12192059 IL1B interleukin 1 beta gene DOID:1793 pancreatic cancer ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:7787209|REF_RGD_ID:2311069 12192059 IL1B interleukin 1 beta gene DOID:1793 pancreatic cancer susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:-511C>T, -31T>C (human) PMID:19251436|REF_RGD_ID:2317215 12192059 IL1B interleukin 1 beta gene DOID:182 calcinosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12192059 IL1B interleukin 1 beta gene DOID:1824 status epilepticus ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22960129|REF_RGD_ID:7204701 12192059 IL1B interleukin 1 beta gene DOID:1824 status epilepticus ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:14678765|REF_RGD_ID:1626682 12192059 IL1B interleukin 1 beta gene DOID:1826 epilepsy ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:brain,plasma PMID:28303499|REF_RGD_ID:13524859 12192059 IL1B interleukin 1 beta gene DOID:1883 hepatitis C ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Glomerulonephritis; protein:increased expression:serum (human) PMID:21623661|REF_RGD_ID:7175316 12192059 IL1B interleukin 1 beta gene DOID:1936 atherosclerosis ISO RGD:10790 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic PMID:21245127|REF_RGD_ID:7175328 12192059 IL1B interleukin 1 beta gene DOID:1936 atherosclerosis ameliorates ISO RGD:10790 D RGD:9068941 20230330 RGD PMID:35854140|REF_RGD_ID:242905195 12192059 IL1B interleukin 1 beta gene DOID:216 dental caries ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP: :rs1143627C>T (human) PMID:30803280|REF_RGD_ID:14975276 12192059 IL1B interleukin 1 beta gene DOID:2228 thrombocytosis ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:2265245|REF_RGD_ID:10450885 12192059 IL1B interleukin 1 beta gene DOID:224 transient cerebral ischemia ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:22284622|REF_RGD_ID:7175554 12192059 IL1B interleukin 1 beta gene DOID:224 transient cerebral ischemia ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23147509|REF_RGD_ID:7175551 12192059 IL1B interleukin 1 beta gene DOID:2297 leptospirosis ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (mouse) PMID:22323544|REF_RGD_ID:7175257 12192059 IL1B interleukin 1 beta gene DOID:2316 brain ischemia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15737438|PMID:15756928|PMID:17394460|PMID:9236716 12192059 IL1B interleukin 1 beta gene DOID:2349 arteriosclerosis ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Chlamydia Infections PMID:17132885|REF_RGD_ID:1626629 12192059 IL1B interleukin 1 beta gene DOID:2349 arteriosclerosis ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:decreased expression:monocyte PMID:17189873|REF_RGD_ID:1626627 12192059 IL1B interleukin 1 beta gene DOID:2349 arteriosclerosis susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP:promoter PMID:17213232|REF_RGD_ID:1626624 12192059 IL1B interleukin 1 beta gene DOID:2355 anemia ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid;protein:increased expression:serum PMID:3264697|REF_RGD_ID:10450886 12192059 IL1B interleukin 1 beta gene DOID:2377 multiple sclerosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15210533|PMID:25458313 12192059 IL1B interleukin 1 beta gene DOID:2377 multiple sclerosis severity ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:10025794|REF_RGD_ID:1358741 12192059 IL1B interleukin 1 beta gene DOID:2527 nephrosis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22582804|REF_RGD_ID:7175170 12192059 IL1B interleukin 1 beta gene DOID:2841 asthma ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:19684087|REF_RGD_ID:4142836 12192059 IL1B interleukin 1 beta gene DOID:2841 asthma ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9176529 12192059 IL1B interleukin 1 beta gene DOID:2841 asthma ISO RGD:730981 D RGD:9068941 20200609 RGD protein:decreased expression:neutrophil PMID:19842845|REF_RGD_ID:4142830 12192059 IL1B interleukin 1 beta gene DOID:2841 asthma susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism: :-511C>T (human) PMID:18926055|REF_RGD_ID:4142864 12192059 IL1B interleukin 1 beta gene DOID:289 endometriosis ISO RGD:730981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometriosis 12192059 IL1B interleukin 1 beta gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:21871881|REF_RGD_ID:7175308 12192059 IL1B interleukin 1 beta gene DOID:2921 glomerulonephritis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10910440|PMID:9403216 12192059 IL1B interleukin 1 beta gene DOID:2942 bronchiolitis ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:8608647|REF_RGD_ID:4143192 12192059 IL1B interleukin 1 beta gene DOID:2945 severe acute respiratory syndrome ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA:altered expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 12192059 IL1B interleukin 1 beta gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:10790 D RGD:9068941 20200618 RGD mRNA, protein:increased expression:lung, bronchoalveolar lavage (mouse) PMID:32365944|REF_RGD_ID:30309207 12192059 IL1B interleukin 1 beta gene DOID:2957 pulmonary tuberculosis severity ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:bronchioalveolar lavage fluid (human) PMID:10631206|REF_RGD_ID:4143179 12192059 IL1B interleukin 1 beta gene DOID:2957 pulmonary tuberculosis severity ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:10543265|REF_RGD_ID:4143180 12192059 IL1B interleukin 1 beta gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism: :3953T>C (human) PMID:16634865|REF_RGD_ID:5147843 12192059 IL1B interleukin 1 beta gene DOID:2986 IgA glomerulonephritis ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1143627, rs3917356, rs1143633 (human) PMID:19280228|REF_RGD_ID:6907082 12192059 IL1B interleukin 1 beta gene DOID:2986 IgA glomerulonephritis no_association ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP PMID:21049406|REF_RGD_ID:6907116 12192059 IL1B interleukin 1 beta gene DOID:2987 familial Mediterranean fever ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22384525|REF_RGD_ID:6482659 12192059 IL1B interleukin 1 beta gene DOID:299 adenocarcinoma ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028472 12192059 IL1B interleukin 1 beta gene DOID:3021 acute kidney failure ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:22286667|REF_RGD_ID:7175258 12192059 IL1B interleukin 1 beta gene DOID:3021 acute kidney failure ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney, liver, spleen (mouse) PMID:21677145|REF_RGD_ID:7175314 12192059 IL1B interleukin 1 beta gene DOID:3021 acute kidney failure ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22750969|REF_RGD_ID:7175094 12192059 IL1B interleukin 1 beta gene DOID:3021 acute kidney failure ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:22659586|REF_RGD_ID:7175102 12192059 IL1B interleukin 1 beta gene DOID:3068 glioblastoma ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16356833 12192059 IL1B interleukin 1 beta gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism: :-31T>C (human) PMID:18364273|REF_RGD_ID:4142868 12192059 IL1B interleukin 1 beta gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-31T>C, 3953T>C (human) PMID:17380888|REF_RGD_ID:4142873 12192059 IL1B interleukin 1 beta gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-31T>C, -511C>T (human) PMID:18579366|REF_RGD_ID:4142866 12192059 IL1B interleukin 1 beta gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-31T>C, 3954T>C (human) PMID:15766560|REF_RGD_ID:4143169 12192059 IL1B interleukin 1 beta gene DOID:310 MERRF Syndrome ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12192059 IL1B interleukin 1 beta gene DOID:3229 gastric dilatation ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:30249047|REF_RGD_ID:14975138 12192059 IL1B interleukin 1 beta gene DOID:3310 atopic dermatitis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 12192059 IL1B interleukin 1 beta gene DOID:3393 coronary artery disease ISO RGD:730981 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood (human) PMID:22780915|REF_RGD_ID:7175093 12192059 IL1B interleukin 1 beta gene DOID:3454 brain infarction ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:17678971|REF_RGD_ID:1626644 12192059 IL1B interleukin 1 beta gene DOID:3482 plague ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:20565713|REF_RGD_ID:4142820 12192059 IL1B interleukin 1 beta gene DOID:3525 middle cerebral artery infarction ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:23028794|REF_RGD_ID:7204480 12192059 IL1B interleukin 1 beta gene DOID:3525 middle cerebral artery infarction ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 12192059 IL1B interleukin 1 beta gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:2891 D RGD:9068941 20230330 RGD PMID:35322553|REF_RGD_ID:242905190 12192059 IL1B interleukin 1 beta gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:24916922|PMID:29498696|REF_RGD_ID:10450594|REF_RGD_ID:13792833 12192059 IL1B interleukin 1 beta gene DOID:3526 cerebral infarction treatment ISO RGD:10790 D RGD:9068941 20220930 RGD PMID:29111308|REF_RGD_ID:155260331 12192059 IL1B interleukin 1 beta gene DOID:3612 retinitis ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:9008627|REF_RGD_ID:7401167 12192059 IL1B interleukin 1 beta gene DOID:3687 MELAS syndrome ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12192059 IL1B interleukin 1 beta gene DOID:37 skin disease ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338|PMID:22533443 12192059 IL1B interleukin 1 beta gene DOID:3717 gastric adenocarcinoma ISO RGD:730981 D RGD:9068941 20210507 RGD protein:increased expression:blood serum (human) PMID:31396300|REF_RGD_ID:126908003 12192059 IL1B interleukin 1 beta gene DOID:3770 pulmonary fibrosis ISO RGD:10790 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20522787|REF_RGD_ID:4142535 12192059 IL1B interleukin 1 beta gene DOID:3770 pulmonary fibrosis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23132788|REF_RGD_ID:7193137 12192059 IL1B interleukin 1 beta gene DOID:3770 pulmonary fibrosis ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19945540|REF_RGD_ID:4142813 12192059 IL1B interleukin 1 beta gene DOID:3770 pulmonary fibrosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17266442|PMID:23640035 12192059 IL1B interleukin 1 beta gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism: :-31T>C (human) PMID:16126303|REF_RGD_ID:4143167 12192059 IL1B interleukin 1 beta gene DOID:4079 heart valve disease ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12192059 IL1B interleukin 1 beta gene DOID:418 systemic scleroderma susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:-31T>C,-511C>T (human) PMID:17444587|REF_RGD_ID:4142872 12192059 IL1B interleukin 1 beta gene DOID:4195 hyperglycemia ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17047293|REF_RGD_ID:1626631 12192059 IL1B interleukin 1 beta gene DOID:4362 cervical cancer susceptibility ISO RGD:730981 D RGD:9068941 20200724 RGD associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) PMID:25893807|REF_RGD_ID:36174015 12192059 IL1B interleukin 1 beta gene DOID:4481 allergic rhinitis ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus PMID:7750009|REF_RGD_ID:7401199 12192059 IL1B interleukin 1 beta gene DOID:4483 rhinitis ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:20490816|REF_RGD_ID:4142821 12192059 IL1B interleukin 1 beta gene DOID:4483 rhinitis ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Hypersensitivity;protein:increased expression:nasal mucus PMID:10224452|REF_RGD_ID:4143227 12192059 IL1B interleukin 1 beta gene DOID:4483 rhinitis susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Hypersensitivity;DNA:polymorphism: :-511C>T (human) PMID:14533660|REF_RGD_ID:4142859 12192059 IL1B interleukin 1 beta gene DOID:4692 endophthalmitis ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:vitreous: PMID:16544114|REF_RGD_ID:7829753 12192059 IL1B interleukin 1 beta gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (mouse) PMID:22046355|REF_RGD_ID:6893447 12192059 IL1B interleukin 1 beta gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:9198037|REF_RGD_ID:7401232 12192059 IL1B interleukin 1 beta gene DOID:4989 pancreatitis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23070084|REF_RGD_ID:7204440 12192059 IL1B interleukin 1 beta gene DOID:5041 esophageal cancer treatment ISO RGD:730981 D RGD:9068941 20220715 RGD PMID:26603620|REF_RGD_ID:152998997 12192059 IL1B interleukin 1 beta gene DOID:5199 ureteral obstruction ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (mouse) PMID:22048127|REF_RGD_ID:7175301 12192059 IL1B interleukin 1 beta gene DOID:5199 ureteral obstruction ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:21370451|REF_RGD_ID:7175323 12192059 IL1B interleukin 1 beta gene DOID:535 sleep disorder ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17520785 12192059 IL1B interleukin 1 beta gene DOID:5419 schizophrenia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 12192059 IL1B interleukin 1 beta gene DOID:5463 cochlear disease treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:29304389|REF_RGD_ID:13792837 12192059 IL1B interleukin 1 beta gene DOID:552 pneumonia ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:19901996|PMID:20007584|REF_RGD_ID:4142812|REF_RGD_ID:4143211 12192059 IL1B interleukin 1 beta gene DOID:552 pneumonia ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:20155581|REF_RGD_ID:4142827 12192059 IL1B interleukin 1 beta gene DOID:552 pneumonia ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20476872|REF_RGD_ID:4142536 12192059 IL1B interleukin 1 beta gene DOID:552 pneumonia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12192059 IL1B interleukin 1 beta gene DOID:552 pneumonia ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19825784|REF_RGD_ID:4142831 12192059 IL1B interleukin 1 beta gene DOID:552 pneumonia ISO RGD:730981 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12192059 IL1B interleukin 1 beta gene DOID:5614 eye disease ISO RGD:730981 D RGD:9068941 20200609 RGD asociated with Behcet's disease PMID:26654556|REF_RGD_ID:14975256 12192059 IL1B interleukin 1 beta gene DOID:5844 myocardial infarction ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23143013|REF_RGD_ID:7175553 12192059 IL1B interleukin 1 beta gene DOID:5844 myocardial infarction ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:23237935|REF_RGD_ID:7204425 12192059 IL1B interleukin 1 beta gene DOID:5844 myocardial infarction ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11743230|PMID:15883752|PMID:16310260 12192059 IL1B interleukin 1 beta gene DOID:5844 myocardial infarction ameliorates ISO RGD:2891 D RGD:9068941 20230330 RGD PMID:33389498|REF_RGD_ID:242905187 12192059 IL1B interleukin 1 beta gene DOID:6000 congestive heart failure ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15135663 12192059 IL1B interleukin 1 beta gene DOID:614 lymphopenia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1884014 12192059 IL1B interleukin 1 beta gene DOID:630 genetic disease ISO RGD:730981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192059 IL1B interleukin 1 beta gene DOID:6432 pulmonary hypertension ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Scleroderma, Limited;protein:increased expression:serum PMID:20808962|REF_RGD_ID:4892610 12192059 IL1B interleukin 1 beta gene DOID:6432 pulmonary hypertension ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20713898|REF_RGD_ID:4142530 12192059 IL1B interleukin 1 beta gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-31T>C (human) PMID:21653279|REF_RGD_ID:7401222 12192059 IL1B interleukin 1 beta gene DOID:699 mitochondrial myopathy ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12192059 IL1B interleukin 1 beta gene DOID:705 Leber hereditary optic neuropathy ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12192059 IL1B interleukin 1 beta gene DOID:7148 rheumatoid arthritis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12566094|PMID:17379860|PMID:22450443 12192059 IL1B interleukin 1 beta gene DOID:7148 rheumatoid arthritis ISO RGD:730981 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:22414257|REF_RGD_ID:6482656 12192059 IL1B interleukin 1 beta gene DOID:7148 rheumatoid arthritis ISO RGD:730981 D RGD:9068941 20221117 RGD mRNA:increased expression:synovial (human) PMID:22660635|REF_RGD_ID:155663483 12192059 IL1B interleukin 1 beta gene DOID:7427 anthrax disease disease_progression ISO RGD:10790 D RGD:9068941 20201211 RGD mRNA:decreased expression:multiple (mouse) PMID:19075243|REF_RGD_ID:40902812 12192059 IL1B interleukin 1 beta gene DOID:750 peptic ulcer disease ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19448967 12192059 IL1B interleukin 1 beta gene DOID:769 neuroblastoma ISO RGD:730981 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 12192059 IL1B interleukin 1 beta gene DOID:7693 abdominal aortic aneurysm ISO RGD:2891 D RGD:9068941 20201002 RGD protein:decreased expression:serum (rat) PMID:15238617|REF_RGD_ID:1302825 12192059 IL1B interleukin 1 beta gene DOID:783 end stage renal disease ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22031851|REF_RGD_ID:7175302 12192059 IL1B interleukin 1 beta gene DOID:783 end stage renal disease ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:20199183|REF_RGD_ID:7175346 12192059 IL1B interleukin 1 beta gene DOID:783 end stage renal disease no_association ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP PMID:20551628|REF_RGD_ID:6907070 12192059 IL1B interleukin 1 beta gene DOID:784 chronic kidney disease ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (mouse) PMID:21975861|REF_RGD_ID:7175304 12192059 IL1B interleukin 1 beta gene DOID:784 chronic kidney disease ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22728154|REF_RGD_ID:7175095 12192059 IL1B interleukin 1 beta gene DOID:784 chronic kidney disease ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:22613545|REF_RGD_ID:7175169 12192059 IL1B interleukin 1 beta gene DOID:784 chronic kidney disease ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Periodontitis; DNA:SNP:intron:g.3954C>T (human) PMID:22795294|REF_RGD_ID:6906881 12192059 IL1B interleukin 1 beta gene DOID:784 chronic kidney disease ISO RGD:730981 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:22398717|REF_RGD_ID:7175171 12192059 IL1B interleukin 1 beta gene DOID:824 periodontitis ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:gingiva, stroma (rat) PMID:23167849|REF_RGD_ID:7175547 12192059 IL1B interleukin 1 beta gene DOID:824 periodontitis ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Severe Congenital Neutropenia;protein:increased expression:gingival crevicular fluid PMID:21796505|REF_RGD_ID:10450515 12192059 IL1B interleukin 1 beta gene DOID:824 periodontitis ISO RGD:730981 D RGD:9068941 20200609 RGD mRNA:increased expression:gingiva PMID:22795294|REF_RGD_ID:6906881 12192059 IL1B interleukin 1 beta gene DOID:824 periodontitis treatment ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:27795360|REF_RGD_ID:14975132 12192059 IL1B interleukin 1 beta gene DOID:824 periodontitis treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:24586097|REF_RGD_ID:10450598 12192059 IL1B interleukin 1 beta gene DOID:8398 osteoarthritis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21954917 12192059 IL1B interleukin 1 beta gene DOID:8398 osteoarthritis treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22890185|REF_RGD_ID:7207218 12192059 IL1B interleukin 1 beta gene DOID:841 extrinsic allergic alveolitis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:1519663|REF_RGD_ID:7401229 12192059 IL1B interleukin 1 beta gene DOID:841 extrinsic allergic alveolitis disease_progression ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19556641|REF_RGD_ID:4142842 12192059 IL1B interleukin 1 beta gene DOID:850 lung disease ISO RGD:10790 D RGD:9068941 20200609 RGD associated with Hyperoxia;mRNA, protein:increased expression:lung PMID:9641262|REF_RGD_ID:4143189 12192059 IL1B interleukin 1 beta gene DOID:850 lung disease ISO RGD:10790 D RGD:9068941 20200609 RGD associated with Reperfusion Injury;protein:increased expression:lung PMID:19941004|REF_RGD_ID:4142814 12192059 IL1B interleukin 1 beta gene DOID:850 lung disease ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Endotoxemia;protein:increased expression:lung PMID:19843795|REF_RGD_ID:4142819 12192059 IL1B interleukin 1 beta gene DOID:850 lung disease ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Pancreatitis;protein:increased expression:serum PMID:19926967|REF_RGD_ID:4142815 12192059 IL1B interleukin 1 beta gene DOID:850 lung disease ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic PMID:20041965|REF_RGD_ID:4142810 12192059 IL1B interleukin 1 beta gene DOID:850 lung disease susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;DNA:SNP: :3962C>T (human) PMID:17584583|REF_RGD_ID:4142870 12192059 IL1B interleukin 1 beta gene DOID:8552 chronic myeloid leukemia severity ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:7949186|REF_RGD_ID:10450889 12192059 IL1B interleukin 1 beta gene DOID:8577 ulcerative colitis ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:24812904|REF_RGD_ID:10450593 12192059 IL1B interleukin 1 beta gene DOID:8577 ulcerative colitis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12133438|PMID:15955209|PMID:20452301|PMID:22119283 12192059 IL1B interleukin 1 beta gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23158403|REF_RGD_ID:7175550 12192059 IL1B interleukin 1 beta gene DOID:869 cholesteatoma ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:1384343|PMID:8725537|REF_RGD_ID:7401205|REF_RGD_ID:7401208 12192059 IL1B interleukin 1 beta gene DOID:8725 vascular dementia ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16600299|REF_RGD_ID:1626633 12192059 IL1B interleukin 1 beta gene DOID:874 bacterial pneumonia ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:18596024|REF_RGD_ID:4143205 12192059 IL1B interleukin 1 beta gene DOID:874 bacterial pneumonia severity ISO RGD:10790 D RGD:9068941 20200820 RGD PMID:25398094|REF_RGD_ID:38501102 12192059 IL1B interleukin 1 beta gene DOID:874 bacterial pneumonia treatment ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Agranulocytosis PMID:7546648|REF_RGD_ID:10755357 12192059 IL1B interleukin 1 beta gene DOID:8893 psoriasis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7744320 12192059 IL1B interleukin 1 beta gene DOID:8927 learning disability ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21290410 12192059 IL1B interleukin 1 beta gene DOID:8929 atrophic gastritis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19448967 12192059 IL1B interleukin 1 beta gene DOID:8947 diabetic retinopathy ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; protein:decreased tyrosine phosphorylation:vitreous humor PMID:18978347|REF_RGD_ID:2307061 12192059 IL1B interleukin 1 beta gene DOID:8947 diabetic retinopathy ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:serum, vitreous humour PMID:16284605|REF_RGD_ID:7401212 12192059 IL1B interleukin 1 beta gene DOID:8991 cervix uteri carcinoma in situ susceptibility ISO RGD:730981 D RGD:9068941 20200724 RGD associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) PMID:25893807|REF_RGD_ID:36174015 12192059 IL1B interleukin 1 beta gene DOID:9000011 Gallbladder Neoplasms susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Cholelithiasis;DNA:polymorphism:promoter:-511C>T (human) PMID:18940468|REF_RGD_ID:2317216 12192059 IL1B interleukin 1 beta gene DOID:9000039 Spinal Cord Injuries ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23209732|REF_RGD_ID:7175523 12192059 IL1B interleukin 1 beta gene DOID:9000039 Spinal Cord Injuries ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:16038625|REF_RGD_ID:1626673 12192059 IL1B interleukin 1 beta gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:29691718|REF_RGD_ID:14975124 12192059 IL1B interleukin 1 beta gene DOID:9000099 Experimental Colitis treatment ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:31175857|REF_RGD_ID:14975282 12192059 IL1B interleukin 1 beta gene DOID:9000169 Systemic Inflammatory Response Syndrome ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:22253906|REF_RGD_ID:7175262 12192059 IL1B interleukin 1 beta gene DOID:9000173 Eye Burns ISO RGD:10790 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:9618720|REF_RGD_ID:7794723 12192059 IL1B interleukin 1 beta gene DOID:9000197 Edema treatment ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Inflammation PMID:2611121|REF_RGD_ID:7401193 12192059 IL1B interleukin 1 beta gene DOID:9000217 Stomach Neoplasms ISO RGD:730981 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:15492468|PMID:19584167|PMID:22414649 12192059 IL1B interleukin 1 beta gene DOID:9000304 Manganese Poisoning ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18041089 12192059 IL1B interleukin 1 beta gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22467534 12192059 IL1B interleukin 1 beta gene DOID:9000412 Presenile and Senile Dementia ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23126199|REF_RGD_ID:7193138 12192059 IL1B interleukin 1 beta gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27157545 12192059 IL1B interleukin 1 beta gene DOID:9000528 Coronary Disease ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15379752|REF_RGD_ID:1626636 12192059 IL1B interleukin 1 beta gene DOID:9000540 HIV Wasting Syndrome ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12192059 IL1B interleukin 1 beta gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:14754758|REF_RGD_ID:4143217 12192059 IL1B interleukin 1 beta gene DOID:9000784 Fibrosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25388157 12192059 IL1B interleukin 1 beta gene DOID:9000808 Hypercholesterolemia ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17330503|REF_RGD_ID:1626623 12192059 IL1B interleukin 1 beta gene DOID:9000855 Experimental Radiation Injuries ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11121210 12192059 IL1B interleukin 1 beta gene DOID:9000918 Disease Progression ISO RGD:730981 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 12192059 IL1B interleukin 1 beta gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:10790 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20574227|REF_RGD_ID:4142534 12192059 IL1B interleukin 1 beta gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22007788|REF_RGD_ID:6482672 12192059 IL1B interleukin 1 beta gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20452617|REF_RGD_ID:4142537 12192059 IL1B interleukin 1 beta gene DOID:9000972 Fever ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:hypothalamus PMID:16455768|REF_RGD_ID:1626671 12192059 IL1B interleukin 1 beta gene DOID:9000972 Fever ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11852909|PMID:15384034|PMID:22143887|PMID:25164664|PMID:9952427 12192059 IL1B interleukin 1 beta gene DOID:9000998 Brain Injuries ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:17612572|REF_RGD_ID:1626652 12192059 IL1B interleukin 1 beta gene DOID:9000998 Brain Injuries ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:16024175|REF_RGD_ID:2311098 12192059 IL1B interleukin 1 beta gene DOID:9000998 Brain Injuries ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:brain, cerebrospinal fluid PMID:22503903|REF_RGD_ID:6482651 12192059 IL1B interleukin 1 beta gene DOID:9000998 Brain Injuries ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19800810|PMID:21549006 12192059 IL1B interleukin 1 beta gene DOID:9001039 Leukocytosis ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:19633061|REF_RGD_ID:4142837 12192059 IL1B interleukin 1 beta gene DOID:9001039 Leukocytosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1884014 12192059 IL1B interleukin 1 beta gene DOID:9001039 Leukocytosis ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:1581467|REF_RGD_ID:10450884 12192059 IL1B interleukin 1 beta gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:1323256 D RGD:9068941 20200609 RGD PMID:20065029|REF_RGD_ID:4142828 12192059 IL1B interleukin 1 beta gene DOID:9001109 Anorexia ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus PMID:22902858|REF_RGD_ID:13825124 12192059 IL1B interleukin 1 beta gene DOID:9001109 Anorexia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12077204|PMID:25392278 12192059 IL1B interleukin 1 beta gene DOID:9001142 Drug-Induced Agranulocytosis treatment ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Glioblastoma; PMID:1331350|REF_RGD_ID:10450883 12192059 IL1B interleukin 1 beta gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2891 D RGD:9068941 20200609 RGD tibial and peroneal nerves PMID:23121415|REF_RGD_ID:7204126 12192059 IL1B interleukin 1 beta gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:23009062|REF_RGD_ID:7204488 12192059 IL1B interleukin 1 beta gene DOID:9001488 Human Influenza ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:20438620|REF_RGD_ID:4142822 12192059 IL1B interleukin 1 beta gene DOID:9001542 Albuminuria ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:23103566|REF_RGD_ID:7175089 12192059 IL1B interleukin 1 beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16085334 12192059 IL1B interleukin 1 beta gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:24383550|REF_RGD_ID:10450610 12192059 IL1B interleukin 1 beta gene DOID:9001708 Hemorrhagic Shock ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15580020|PMID:17545943|REF_RGD_ID:1626655|REF_RGD_ID:2311100 12192059 IL1B interleukin 1 beta gene DOID:9001708 Hemorrhagic Shock severity ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:kidney, serum (rat) PMID:21336199|REF_RGD_ID:7175325 12192059 IL1B interleukin 1 beta gene DOID:9001725 Retina Reperfusion Injury ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:7890488|REF_RGD_ID:7401191 12192059 IL1B interleukin 1 beta gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Cholestasis PMID:21468628|REF_RGD_ID:7175318 12192059 IL1B interleukin 1 beta gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:10790 D RGD:9068941 20220930 RGD PMID:32155285|REF_RGD_ID:155260323 12192059 IL1B interleukin 1 beta gene DOID:9002165 Diabetic Nephropathies ISO RGD:10790 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:22086159|REF_RGD_ID:7175266 12192059 IL1B interleukin 1 beta gene DOID:9002165 Diabetic Nephropathies ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19769609|REF_RGD_ID:7175519 12192059 IL1B interleukin 1 beta gene DOID:9002211 Hyperalgesia ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:15317861|PMID:22265659|REF_RGD_ID:1626676|REF_RGD_ID:6482671 12192059 IL1B interleukin 1 beta gene DOID:9002211 Hyperalgesia ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Peripheral Nerve Injuries PMID:23159984|REF_RGD_ID:7175548 12192059 IL1B interleukin 1 beta gene DOID:9002211 Hyperalgesia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10401557|PMID:12727271|PMID:17320857|PMID:20937348|PMID:27093858|PMID:7582491 12192059 IL1B interleukin 1 beta gene DOID:9002211 Hyperalgesia ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:8741165|REF_RGD_ID:7401209 12192059 IL1B interleukin 1 beta gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-511C>T (human) PMID:18271063|REF_RGD_ID:11051967 12192059 IL1B interleukin 1 beta gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:730981 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:10870116|REF_RGD_ID:11522755 12192059 IL1B interleukin 1 beta gene DOID:9002371 Cardiotoxicity ISO RGD:730981 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism PMID:32068018 12192059 IL1B interleukin 1 beta gene DOID:9002457 Experimental Arthritis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:21557995|REF_RGD_ID:7175317 12192059 IL1B interleukin 1 beta gene DOID:9002457 Experimental Arthritis ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:23140046|REF_RGD_ID:7193038 12192059 IL1B interleukin 1 beta gene DOID:9002457 Experimental Arthritis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19330884|PMID:20131233|PMID:20974942|PMID:22450443 12192059 IL1B interleukin 1 beta gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:24028507|PMID:29408684|REF_RGD_ID:10755447|REF_RGD_ID:13792834 12192059 IL1B interleukin 1 beta gene DOID:9002503 Neutropenic Enterocolitis ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:small intestine (rat) PMID:23228325|REF_RGD_ID:7204427 12192059 IL1B interleukin 1 beta gene DOID:9002676 Cerebral Hemorrhage ameliorates ISO RGD:2891 D RGD:9068941 20230504 RGD PMID:31376096|REF_RGD_ID:329337378 12192059 IL1B interleukin 1 beta gene DOID:9002775 Cognitive Dysfunction ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:23251531|REF_RGD_ID:7204493 12192059 IL1B interleukin 1 beta gene DOID:9002775 Cognitive Dysfunction ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23251531|REF_RGD_ID:7204493 12192059 IL1B interleukin 1 beta gene DOID:9002805 Enterocolitis ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:cecum (rat) PMID:8144001|REF_RGD_ID:2311103 12192059 IL1B interleukin 1 beta gene DOID:9002906 Multiple Organ Failure ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:21323892|REF_RGD_ID:7175326 12192059 IL1B interleukin 1 beta gene DOID:9002906 Multiple Organ Failure ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Heat Stroke PMID:21392091|REF_RGD_ID:7175322 12192059 IL1B interleukin 1 beta gene DOID:9002928 Colonic Neoplasms ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925|PMID:18987561|PMID:19028472 12192059 IL1B interleukin 1 beta gene DOID:9003219 Invasive Pulmonary Aspergillosis ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype: :-511C>T (human) PMID:18484169|REF_RGD_ID:4142867 12192059 IL1B interleukin 1 beta gene DOID:9003281 Spontaneous Abortions ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12192059 IL1B interleukin 1 beta gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:23110519|REF_RGD_ID:7204438 12192059 IL1B interleukin 1 beta gene DOID:9003730 Chemical Burns ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 12192059 IL1B interleukin 1 beta gene DOID:9003871 Venous Thrombosis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:17651586|REF_RGD_ID:2311092 12192059 IL1B interleukin 1 beta gene DOID:9003936 Cardiomegaly ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart PMID:15542404|REF_RGD_ID:1581939 12192059 IL1B interleukin 1 beta gene DOID:9003936 Cardiomegaly ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15302781 12192059 IL1B interleukin 1 beta gene DOID:9004009 Reperfusion Injury ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10594344|PMID:12468449|PMID:15829914|PMID:19058328|PMID:19673871 12192059 IL1B interleukin 1 beta gene DOID:9004086 AIDS Dementia Complex ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:neocortex PMID:17678975|REF_RGD_ID:1626641 12192059 IL1B interleukin 1 beta gene DOID:9004118 Experimental Melanoma ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:1966551|REF_RGD_ID:7401226 12192059 IL1B interleukin 1 beta gene DOID:9004283 Transplant Rejection ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:snp:intron:g.3962C>T (human) PMID:22663993|REF_RGD_ID:7175098 12192059 IL1B interleukin 1 beta gene DOID:9004283 Transplant Rejection severity ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:8094579|REF_RGD_ID:7401188 12192059 IL1B interleukin 1 beta gene DOID:9004484 Sepsis ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17529909|REF_RGD_ID:1626657 12192059 IL1B interleukin 1 beta gene DOID:9004484 Sepsis ISO RGD:730981 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:32062619 12192059 IL1B interleukin 1 beta gene DOID:9004484 Sepsis treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:21429520|REF_RGD_ID:7175319 12192059 IL1B interleukin 1 beta gene DOID:9004547 Thyroid Neoplasms ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 12192059 IL1B interleukin 1 beta gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27567548 12192059 IL1B interleukin 1 beta gene DOID:9004593 Drug-Induced Immune Thrombocytopenia treatment ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Glioblastoma; PMID:1331350|REF_RGD_ID:10450883 12192059 IL1B interleukin 1 beta gene DOID:9004610 Acute Lung Injury ISO RGD:10790 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20153312|REF_RGD_ID:4142807 12192059 IL1B interleukin 1 beta gene DOID:9004610 Acute Lung Injury ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22982561|REF_RGD_ID:7204498 12192059 IL1B interleukin 1 beta gene DOID:9004610 Acute Lung Injury ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:21767135|REF_RGD_ID:6480432 12192059 IL1B interleukin 1 beta gene DOID:9004610 Acute Lung Injury ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:8613550|REF_RGD_ID:4143193 12192059 IL1B interleukin 1 beta gene DOID:9004610 Acute Lung Injury ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20663306|REF_RGD_ID:4142531 12192059 IL1B interleukin 1 beta gene DOID:9004610 Acute Lung Injury ISO RGD:730981 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:32062619 12192059 IL1B interleukin 1 beta gene DOID:9004649 Heat Stroke ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 12192059 IL1B interleukin 1 beta gene DOID:9004649 Heat Stroke treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:10970434|REF_RGD_ID:12902613 12192059 IL1B interleukin 1 beta gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9032749 12192059 IL1B interleukin 1 beta gene DOID:9004932 Eales Disease ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:19585364|REF_RGD_ID:7401211 12192059 IL1B interleukin 1 beta gene DOID:9005172 Lung Neoplasms ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22369883|PMID:28212736 12192059 IL1B interleukin 1 beta gene DOID:9005372 Inflammation ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Anoxia PMID:22994521|REF_RGD_ID:7204492 12192059 IL1B interleukin 1 beta gene DOID:9005372 Inflammation ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Cholestasis;mRNA:increased expression:liver PMID:17676395|REF_RGD_ID:1626645 12192059 IL1B interleukin 1 beta gene DOID:9005372 Inflammation ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Hypersensitivity, Delayed;protein:increased expression:brain, plasma PMID:15050649|REF_RGD_ID:1626679 12192059 IL1B interleukin 1 beta gene DOID:9005372 Inflammation ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422|PMID:16227999|PMID:21437948|PMID:21467745|PMID:22001142|PMID:23640035|PMID:24609059|PMID:28212736|PMID:9952427 12192059 IL1B interleukin 1 beta gene DOID:9005372 Inflammation treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:25706245|PMID:26069367|REF_RGD_ID:11059519|REF_RGD_ID:11059520 12192059 IL1B interleukin 1 beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23197974|REF_RGD_ID:7175529 12192059 IL1B interleukin 1 beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:17669395|REF_RGD_ID:1626620 12192059 IL1B interleukin 1 beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12123627 12192059 IL1B interleukin 1 beta gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22094062|REF_RGD_ID:7175334 12192059 IL1B interleukin 1 beta gene DOID:9005729 Chronic Experimental Pancreatitis ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:22173919|REF_RGD_ID:10044253 12192059 IL1B interleukin 1 beta gene DOID:9005749 Necrosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10631206|PMID:10903806|PMID:10909967 12192059 IL1B interleukin 1 beta gene DOID:9005930 Endotoxemia ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17201737|REF_RGD_ID:1626625 12192059 IL1B interleukin 1 beta gene DOID:9005941 Rhinosinusitis ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium PMID:11197112|REF_RGD_ID:7401169 12192059 IL1B interleukin 1 beta gene DOID:9006024 Hypotension ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15384034|PMID:1884014 12192059 IL1B interleukin 1 beta gene DOID:9006205 Animal Disease Models ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12192059 IL1B interleukin 1 beta gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:20030532|REF_RGD_ID:7175501 12192059 IL1B interleukin 1 beta gene DOID:9006358 Postoperative Cognitive Dysfunction ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22959208|REF_RGD_ID:7204702 12192059 IL1B interleukin 1 beta gene DOID:9006388 Vulvar Vestibulitis ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:9015038|REF_RGD_ID:7394738 12192059 IL1B interleukin 1 beta gene DOID:9006554 Pancreatic Cyst disease_progression ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:21266527|REF_RGD_ID:7794719 12192059 IL1B interleukin 1 beta gene DOID:9006647 Experimental Autoimmune Neuritis treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:18400050|REF_RGD_ID:7401218 12192059 IL1B interleukin 1 beta gene DOID:9006827 Lung Reperfusion Injury ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23142117|REF_RGD_ID:7183185 12192059 IL1B interleukin 1 beta gene DOID:9006827 Lung Reperfusion Injury ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:23122581|REF_RGD_ID:7204125 12192059 IL1B interleukin 1 beta gene DOID:9006827 Lung Reperfusion Injury ameliorates ISO RGD:10790 D RGD:9068941 20220915 RGD PMID:34238924|REF_RGD_ID:153350155 12192059 IL1B interleukin 1 beta gene DOID:9006939 Lyme Neuroborreliosis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23134838|REF_RGD_ID:7193053 12192059 IL1B interleukin 1 beta gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:11895986|REF_RGD_ID:7401195 12192059 IL1B interleukin 1 beta gene DOID:9007096 Stroke ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10950380 12192059 IL1B interleukin 1 beta gene DOID:9007102 Myocardial Ischemia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12192059 IL1B interleukin 1 beta gene DOID:9007334 Small-For-Size Syndrome treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22955229|REF_RGD_ID:8655911 12192059 IL1B interleukin 1 beta gene DOID:9007346 Cachexia ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Inflammation PMID:15005009|REF_RGD_ID:1626680 12192059 IL1B interleukin 1 beta gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23102243|REF_RGD_ID:7204421 12192059 IL1B interleukin 1 beta gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19164858|PMID:28138970 12192059 IL1B interleukin 1 beta gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:29091898|PMID:31077717|REF_RGD_ID:14975281|REF_RGD_ID:15090820 12192059 IL1B interleukin 1 beta gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:29091898|PMID:29278859|PMID:31342809|REF_RGD_ID:13793380|REF_RGD_ID:15036799|REF_RGD_ID:15090820 12192059 IL1B interleukin 1 beta gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:7486912|REF_RGD_ID:7401204 12192059 IL1B interleukin 1 beta gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Agranulocytosis PMID:7923933|REF_RGD_ID:10450534 12192059 IL1B interleukin 1 beta gene DOID:9007588 Heart Injuries ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:17719662|REF_RGD_ID:7401227 12192059 IL1B interleukin 1 beta gene DOID:9007588 Heart Injuries ameliorates ISO RGD:10790 D RGD:9068941 20230330 RGD associated with obesity PMID:32084395|REF_RGD_ID:242905211 12192059 IL1B interleukin 1 beta gene DOID:9007692 Insulin Resistance ISO RGD:10790 D RGD:9068941 20200609 RGD associated with Obesity;mRNA:increased expression:adipose tissue PMID:16865359|REF_RGD_ID:1626632 12192059 IL1B interleukin 1 beta gene DOID:9007692 Insulin Resistance treatment ISO RGD:2891 D RGD:9068941 20200609 RGD associated with hypothalamic disease PMID:29522769|REF_RGD_ID:13792596 12192059 IL1B interleukin 1 beta gene DOID:9007730 Burns ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18277951 12192059 IL1B interleukin 1 beta gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-511C>T (rs 16944) (human) PMID:23461376|REF_RGD_ID:11051970 12192059 IL1B interleukin 1 beta gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:17134725|REF_RGD_ID:1626628 12192059 IL1B interleukin 1 beta gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2891 D RGD:9068941 20220929 RGD PMID:31583047|REF_RGD_ID:155230831 12192059 IL1B interleukin 1 beta gene DOID:9007956 Febrile Seizures ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:16393156|REF_RGD_ID:1626672 12192059 IL1B interleukin 1 beta gene DOID:9007964 Arsenic Poisoning ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12192059 IL1B interleukin 1 beta gene DOID:9008023 Memory Disorders ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21290410 12192059 IL1B interleukin 1 beta gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:10790 D RGD:9068941 20200828 RGD mRNA:altered expression:gastric antrum (mouse) PMID:29085807|REF_RGD_ID:38549349 12192059 IL1B interleukin 1 beta gene DOID:9008617 Lethargy ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22143887 12192059 IL1B interleukin 1 beta gene DOID:9008821 Otitis Media with Effusion ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:18568516|REF_RGD_ID:7394746 12192059 IL1B interleukin 1 beta gene DOID:9008821 Otitis Media with Effusion ISO RGD:8999086 D RGD:9068941 20200609 RGD PMID:8302123|REF_RGD_ID:11554174 12192059 IL1B interleukin 1 beta gene DOID:9008865 Entamoebiasis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16374615 12192059 IL1B interleukin 1 beta gene DOID:9008939 Breast Neoplasms ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037|PMID:17516992|PMID:28212736 12192059 IL1B interleukin 1 beta gene DOID:9008945 Gram-Negative Bacterial Infections ISO RGD:10790 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:20308302|REF_RGD_ID:4142825 12192059 IL1B interleukin 1 beta gene DOID:9009039 Hyperemia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8846404 12192059 IL1B interleukin 1 beta gene DOID:9074 systemic lupus erythematosus ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:-511C>T, 3953C>T (human) PMID:15470475|REF_RGD_ID:7401214 12192059 IL1B interleukin 1 beta gene DOID:9074 systemic lupus erythematosus ISO RGD:730981 D RGD:9068941 20221117 RGD mRNA:increased expression:kidney (human) PMID:22660635|REF_RGD_ID:155663483 12192059 IL1B interleukin 1 beta gene DOID:9111 cutaneous leishmaniasis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20102417 12192059 IL1B interleukin 1 beta gene DOID:9146 visceral leishmaniasis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17404324 12192059 IL1B interleukin 1 beta gene DOID:9279 hyperhomocysteinemia ISO RGD:10790 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus (mouse) PMID:22647887|REF_RGD_ID:7175168 12192059 IL1B interleukin 1 beta gene DOID:9352 type 2 diabetes mellitus ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:28843383|REF_RGD_ID:14975146 12192059 IL1B interleukin 1 beta gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:snp:exon:g.3968C>T rs1143634 (human) PMID:21205020|REF_RGD_ID:7175255 12192059 IL1B interleukin 1 beta gene DOID:9362 status asthmaticus ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:9927362|REF_RGD_ID:4143184 12192059 IL1B interleukin 1 beta gene DOID:9402 epididymitis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:29311626|REF_RGD_ID:13792835 12192059 IL1B interleukin 1 beta gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:2891 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 12192059 IL1B interleukin 1 beta gene DOID:9452 fatty liver disease ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17436085|REF_RGD_ID:1626661 12192059 IL1B interleukin 1 beta gene DOID:9538 multiple myeloma ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:-511C>T, 3954T>C (human) PMID:17926179|REF_RGD_ID:11051973 12192059 IL1B interleukin 1 beta gene DOID:9563 bronchiectasis ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:10515411|REF_RGD_ID:4143181 12192059 IL1B interleukin 1 beta gene DOID:9588 encephalitis ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:16006567|REF_RGD_ID:5147676 12192059 IL1B interleukin 1 beta gene DOID:9743 diabetic neuropathy treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23280817|REF_RGD_ID:7401217 12192059 IL1B interleukin 1 beta gene DOID:9744 type 1 diabetes mellitus ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:1797022|REF_RGD_ID:7401233 12192059 IL1B interleukin 1 beta gene DOID:9744 type 1 diabetes mellitus ISO RGD:730981 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood, leukocyte (human) PMID:21848584|REF_RGD_ID:7175335 12192059 IL1B interleukin 1 beta gene DOID:9970 obesity ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:16567518|REF_RGD_ID:1626637 12192059 IL1B interleukin 1 beta gene DOID:9970 obesity ISO RGD:10790 D RGD:9068941 20200609 RGD protein:increased expression:plasma (mouse) PMID:23150506|REF_RGD_ID:7175086 12192059 IL1B interleukin 1 beta gene DOID:9970 obesity ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:20490358|REF_RGD_ID:7175343 12192059 IL1B interleukin 1 beta gene DOID:9970 obesity ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:28843383|REF_RGD_ID:14975146 12192059 IL1B interleukin 1 beta gene DOID:9970 obesity treatment ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:24146106|REF_RGD_ID:10450599 12192059 IL1B interleukin 1 beta gene DOID:9993 hypoglycemia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1884014 12192073 NACA nascent polypeptide associated complex subunit alpha gene DOID:0060224 atrial fibrillation ISO RGD:1318533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12192073 NACA nascent polypeptide associated complex subunit alpha gene DOID:630 genetic disease ISO RGD:1318533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192087 USP19 ubiquitin specific peptidase 19 gene DOID:2843 long QT syndrome ISO RGD:1344113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12192087 USP19 ubiquitin specific peptidase 19 gene DOID:630 genetic disease ISO RGD:1344113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192087 USP19 ubiquitin specific peptidase 19 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1344113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12192087 USP19 ubiquitin specific peptidase 19 gene DOID:9001793 Generalized Epilepsy ISO RGD:1344113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 12192139 TRNAU1AP tRNA selenocysteine 1 associated protein 1 gene DOID:630 genetic disease ISO RGD:733380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192158 VPS33B VPS33B late endosome and lysosome associated gene DOID:0050763 ARC syndrome ISO RGD:732726 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome PMID:25741868|PMID:28492532 12192158 VPS33B VPS33B late endosome and lysosome associated gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:732726 D RGD:9068941 20200609 RGD ARC syndrome, OMIM:208085 PMID:15052268|REF_RGD_ID:1599749 12192158 VPS33B VPS33B late endosome and lysosome associated gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:732726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12192158 VPS33B VPS33B late endosome and lysosome associated gene DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 ISO RGD:732726 D RGD:7240710 20190918 OMIM 12192158 VPS33B VPS33B late endosome and lysosome associated gene DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 ISO RGD:732726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 PMID:11668108|PMID:15052268|PMID:16896922|PMID:17576681|PMID:17994566|PMID:18853461|PMID:19274792|PMID:21851503|PMID:22753090|PMID:24782640|PMID:24917129|PMID:25741868|PMID:26505894|PMID:28492532|PMID:29907094|PMID:31343487|PMID:31479177|PMID:8151641|PMID:9536098 12192158 VPS33B VPS33B late endosome and lysosome associated gene DOID:10907 microcephaly ISO RGD:732726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12192158 VPS33B VPS33B late endosome and lysosome associated gene DOID:13580 cholestasis ISO RGD:732726 D RGD:9068941 20200609 RGD ARC syndrome, OMIM:208085 PMID:15052268|REF_RGD_ID:1599749 12192158 VPS33B VPS33B late endosome and lysosome associated gene DOID:2213 hemorrhagic disease ISO RGD:732726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:28492532 12192158 VPS33B VPS33B late endosome and lysosome associated gene DOID:557 kidney disease ISO RGD:732726 D RGD:9068941 20200609 RGD ARC syndrome, OMIM:208085 PMID:15052268|REF_RGD_ID:1599749 12192158 VPS33B VPS33B late endosome and lysosome associated gene DOID:630 genetic disease ISO RGD:732726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:22753090|PMID:25741868|PMID:26505894|PMID:28492532|PMID:29907094|PMID:31343487|PMID:9536098 12192158 VPS33B VPS33B late endosome and lysosome associated gene DOID:9000149 Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive ISO RGD:732726 D RGD:7240710 20220831 OMIM 12192158 VPS33B VPS33B late endosome and lysosome associated gene DOID:9000149 Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive ISO RGD:732726 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive PMID:28017832 12192158 VPS33B VPS33B late endosome and lysosome associated gene DOID:9001910 Progressive Familial Intrahepatic Cholestasis 12 ISO RGD:732726 D RGD:7240710 20220831 OMIM 12192158 VPS33B VPS33B late endosome and lysosome associated gene DOID:9001910 Progressive Familial Intrahepatic Cholestasis 12 ISO RGD:732726 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 12 PMID:18853461|PMID:25741868|PMID:31479177 12192188 EGR3 early growth response 3 gene DOID:0080600 COVID-19 ISO RGD:736598 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12192188 EGR3 early growth response 3 gene DOID:630 genetic disease ISO RGD:736598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192188 EGR3 early growth response 3 gene DOID:9004866 Ataxia ISO RGD:736598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16091474 12192188 EGR3 early growth response 3 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:736598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12192200 FGD4 FYVE, RhoGEF and PH domain containing 4 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:732078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:15744041|PMID:16199547|PMID:17564959|PMID:17564972|PMID:17576681|PMID:19221294|PMID:25741868|PMID:26400421|PMID:26467025|PMID:26957070|PMID:28492532|PMID:28902413|PMID:32376792|PMID:9536098 12192200 FGD4 FYVE, RhoGEF and PH domain containing 4 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:732078 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:15744041|PMID:16199547|PMID:17564959|PMID:17564972|PMID:17576681|PMID:19221294|PMID:25741868|PMID:26467025|PMID:26957070|PMID:28492532|PMID:28902413|PMID:32376792|PMID:9536098 12192200 FGD4 FYVE, RhoGEF and PH domain containing 4 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:732078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:15744041|PMID:16199547|PMID:17564959|PMID:17564972|PMID:17576681|PMID:19221294|PMID:20301641|PMID:25741868|PMID:26400421|PMID:26467025|PMID:26957070|PMID:28492532|PMID:28847448|PMID:28902413|PMID:31152969|PMID:32376792|PMID:9536098 12192200 FGD4 FYVE, RhoGEF and PH domain containing 4 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:732078 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:27066507|PMID:28492532 12192200 FGD4 FYVE, RhoGEF and PH domain containing 4 gene DOID:0110192 Charcot-Marie-Tooth disease type 4H ISO RGD:732078 D RGD:7240710 20180130 OMIM 12192200 FGD4 FYVE, RhoGEF and PH domain containing 4 gene DOID:0110192 Charcot-Marie-Tooth disease type 4H ISO RGD:732078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4H PMID:15744041|PMID:17564959|PMID:17564972|PMID:17576681|PMID:19221294|PMID:19332693|PMID:20301641|PMID:22734899|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792|PMID:9536098 12192200 FGD4 FYVE, RhoGEF and PH domain containing 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:15744041|PMID:17564959|PMID:17564972|PMID:19332693|PMID:20301641|PMID:22734899|PMID:23466821|PMID:23550889|PMID:24078732|PMID:25231362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792 12192200 FGD4 FYVE, RhoGEF and PH domain containing 4 gene DOID:630 genetic disease ISO RGD:732078 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792 12192240 PDXK pyridoxal kinase gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:30302202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 12192240 PDXK pyridoxal kinase gene DOID:0110266 cataract 9 multiple types ISO RGD:30302202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12192240 PDXK pyridoxal kinase gene DOID:12849 autistic disorder ISO RGD:30302202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12192240 PDXK pyridoxal kinase gene DOID:1824 status epilepticus ISO RGD:30302202 D RGD:9068941 20200625 CTD CTD Direct Evidence: marker/mechanism PMID:19356691 12192240 PDXK pyridoxal kinase gene DOID:630 genetic disease ISO RGD:30302202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192240 PDXK pyridoxal kinase gene DOID:891 progressive myoclonus epilepsy ISO RGD:30302202 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12192240 PDXK pyridoxal kinase gene DOID:9000872 Charcot-Marie-Tooth Disease Type 6C ISO RGD:30302202 D RGD:7240710 20200624 OMIM 12192240 PDXK pyridoxal kinase gene DOID:9000872 Charcot-Marie-Tooth Disease Type 6C ISO RGD:30302202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy PMID:25741868|PMID:31187503 12192240 PDXK pyridoxal kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:30302202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12192240 PDXK pyridoxal kinase gene DOID:9263 homocystinuria ISO RGD:30302202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12192240 PDXK pyridoxal kinase gene DOID:9562 primary ciliary dyskinesia ISO RGD:30302202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12192258 KCNMB3 potassium calcium-activated channel subfamily M regulatory beta subunit 3 gene DOID:0111546 Currarino syndrome ISO RGD:1323526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12192258 KCNMB3 potassium calcium-activated channel subfamily M regulatory beta subunit 3 gene DOID:630 genetic disease ISO RGD:1323526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192258 KCNMB3 potassium calcium-activated channel subfamily M regulatory beta subunit 3 gene DOID:6457 Cowden syndrome ISO RGD:1323526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden syndrome PMID:28492532 12192266 LAMC3 laminin subunit gamma 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1319725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21572417|PMID:28191889 12192266 LAMC3 laminin subunit gamma 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12192266 LAMC3 laminin subunit gamma 3 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1319725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 12192266 LAMC3 laminin subunit gamma 3 gene DOID:1059 intellectual disability ISO RGD:1319725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:33639934 12192266 LAMC3 laminin subunit gamma 3 gene DOID:1826 epilepsy ISO RGD:1319725 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12192266 LAMC3 laminin subunit gamma 3 gene DOID:630 genetic disease ISO RGD:1319725 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28191889|PMID:28492532 12192266 LAMC3 laminin subunit gamma 3 gene DOID:9003313 Occipital Cortical Malformations ISO RGD:1319725 D RGD:7240710 20180130 OMIM 12192266 LAMC3 laminin subunit gamma 3 gene DOID:9003313 Occipital Cortical Malformations ISO RGD:1319725 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cortical malformations, occipital PMID:16199547|PMID:18414213|PMID:21572413|PMID:23160955|PMID:25326635|PMID:25741868|PMID:26633542|PMID:26802095|PMID:28492532|PMID:30266093|PMID:32902107|PMID:33639934 12192266 LAMC3 laminin subunit gamma 3 gene DOID:9007364 Mouth Neoplasms ISO RGD:1319725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27749845 12192266 LAMC3 laminin subunit gamma 3 gene DOID:9008539 Perinatal Death ISO RGD:1319725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal death PMID:25741868|PMID:28492532|PMID:33639934 12192266 LAMC3 laminin subunit gamma 3 gene DOID:936 brain disease ISO RGD:1319725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21572413 12192312 BST2 bone marrow stromal cell antigen 2 gene DOID:0050012 chikungunya ISO RGD:1619156 D RGD:9068941 20200609 RGD PMID:25053563|REF_RGD_ID:14398493 12192312 BST2 bone marrow stromal cell antigen 2 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1346555 D RGD:9068941 20200609 RGD PMID:24706327|REF_RGD_ID:14398491 12192312 BST2 bone marrow stromal cell antigen 2 gene DOID:0060108 brain glioma ISO RGD:1619156 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain: PMID:21565182|REF_RGD_ID:14398497 12192312 BST2 bone marrow stromal cell antigen 2 gene DOID:10534 stomach cancer disease_progression ISO RGD:1346555 D RGD:9068941 20200609 RGD PMID:26832883|REF_RGD_ID:14398496 12192312 BST2 bone marrow stromal cell antigen 2 gene DOID:12894 Sjogren's syndrome ISO RGD:1346555 D RGD:9068941 20200609 RGD mRNA, protein:increased expression: labial gland, CD19+ B cell, CD4-CD8-CD19-monocyte: PMID:30249485|REF_RGD_ID:14398821 12192312 BST2 bone marrow stromal cell antigen 2 gene DOID:1380 endometrial cancer ISO RGD:1346555 D RGD:9068941 20200609 RGD protein:increased expression:endometrium: PMID:22729361|REF_RGD_ID:14398498 12192312 BST2 bone marrow stromal cell antigen 2 gene DOID:1380 endometrial cancer treatment ISO RGD:1346555 D RGD:9068941 20200609 RGD PMID:22729361|PMID:26498112|REF_RGD_ID:14398492|REF_RGD_ID:14398498 12192312 BST2 bone marrow stromal cell antigen 2 gene DOID:3069 malignant astrocytoma severity ISO RGD:1346555 D RGD:9068941 20200609 RGD PMID:21565182|REF_RGD_ID:14398497 12192312 BST2 bone marrow stromal cell antigen 2 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1346555 D RGD:9068941 20200609 RGD PMID:26832883|REF_RGD_ID:14398496 12192312 BST2 bone marrow stromal cell antigen 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1346555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS 12192312 BST2 bone marrow stromal cell antigen 2 gene DOID:630 genetic disease ISO RGD:1346555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192312 BST2 bone marrow stromal cell antigen 2 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1346555 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:26885809|REF_RGD_ID:14398494 12192312 BST2 bone marrow stromal cell antigen 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1619156 D RGD:9068941 20200609 RGD PMID:23806386|REF_RGD_ID:14398495 12192312 BST2 bone marrow stromal cell antigen 2 gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:1619156 D RGD:9068941 20200609 RGD PMID:23806386|REF_RGD_ID:14398495 12192312 BST2 bone marrow stromal cell antigen 2 gene DOID:9006644 Retroviridae Infections ISO RGD:1619156 D RGD:9068941 20200609 RGD PMID:22284121|PMID:24872193|REF_RGD_ID:14398761|REF_RGD_ID:14398822 12192312 BST2 bone marrow stromal cell antigen 2 gene DOID:9006644 Retroviridae Infections disease_progression ISO RGD:1346555 D RGD:9068941 20200609 RGD PMID:28381565|REF_RGD_ID:14398820 12192312 BST2 bone marrow stromal cell antigen 2 gene DOID:9008707 Viremia ISO RGD:1346555 D RGD:9068941 20200609 RGD associated with Retroviridae Infections; PMID:28381565|REF_RGD_ID:14398820 12192321 PANX3 pannexin 3 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1351582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12192321 PANX3 pannexin 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1351582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12192321 PANX3 pannexin 3 gene DOID:5419 schizophrenia ISO RGD:1351582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12192321 PANX3 pannexin 3 gene DOID:630 genetic disease ISO RGD:1351582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192321 PANX3 pannexin 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12192321 PANX3 pannexin 3 gene DOID:9007661 Dwarfism ISO RGD:1351582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12192329 C15H4orf46 chromosome 15 C4orf46 homolog gene DOID:11372 megacolon ISO RGD:1606430 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12192329 C15H4orf46 chromosome 15 C4orf46 homolog gene DOID:630 genetic disease ISO RGD:1606430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192335 HAUS3 HAUS augmin like complex subunit 3 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1312658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12192335 HAUS3 HAUS augmin like complex subunit 3 gene DOID:1856 cherubism ISO RGD:1312658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12192335 HAUS3 HAUS augmin like complex subunit 3 gene DOID:630 genetic disease ISO RGD:1312658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192347 LOC102151838 zinc finger protein OZF-like gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1625646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29054765 12192347 LOC102151838 zinc finger protein OZF-like gene DOID:9005172 Lung Neoplasms ISO RGD:1625646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29054765 12192371 ALPI alkaline phosphatase, intestinal gene DOID:0050589 inflammatory bowel disease ISO RGD:737157 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:29567797|REF_RGD_ID:14367877 12192371 ALPI alkaline phosphatase, intestinal gene DOID:0060476 Perlman syndrome ISO RGD:737157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12192371 ALPI alkaline phosphatase, intestinal gene DOID:0110991 Joubert syndrome 22 ISO RGD:737157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12192371 ALPI alkaline phosphatase, intestinal gene DOID:630 genetic disease ISO RGD:737157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192371 ALPI alkaline phosphatase, intestinal gene DOID:8577 ulcerative colitis ISO RGD:737157 D RGD:9068941 20200609 RGD protein:decreased expression:colonic mucosa PMID:22783049|REF_RGD_ID:14367879 12192371 ALPI alkaline phosphatase, intestinal gene DOID:8778 Crohn's disease ISO RGD:737157 D RGD:9068941 20200609 RGD protein:decreased expression:colonic mucosa PMID:22783049|REF_RGD_ID:14367879 12192371 ALPI alkaline phosphatase, intestinal gene DOID:9007204 Dysbiosis ISO RGD:2099 D RGD:9068941 20200609 RGD PMID:28985873|REF_RGD_ID:14367878 12192386 PON1 paraoxonase 1 gene DOID:0014667 disease of metabolism ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28396702 12192386 PON1 paraoxonase 1 gene DOID:0050731 vitamin B12 deficiency ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:22568797|REF_RGD_ID:11553830 12192386 PON1 paraoxonase 1 gene DOID:0060058 lymphoma ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22800774 12192386 PON1 paraoxonase 1 gene DOID:0060060 non-Hodgkin lymphoma susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q192R (human) PMID:12139735|REF_RGD_ID:11553822 12192386 PON1 paraoxonase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17204329 12192386 PON1 paraoxonase 1 gene DOID:0060669 cerebral cavernous malformation susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) PMID:26122242|REF_RGD_ID:11552573 12192386 PON1 paraoxonase 1 gene DOID:0080001 bone disease ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Multiple Myeloma;protein:increased expression:serum (human) PMID:25322877|REF_RGD_ID:11552587 12192386 PON1 paraoxonase 1 gene DOID:0080016 spina bifida ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21031563 12192386 PON1 paraoxonase 1 gene DOID:0080771 beta-thalassemia major ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (human) PMID:17617032|REF_RGD_ID:11553831 12192386 PON1 paraoxonase 1 gene DOID:10126 keratoconus ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (human) PMID:23441349|REF_RGD_ID:8547774 12192386 PON1 paraoxonase 1 gene DOID:10126 keratoconus severity ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:24148525|REF_RGD_ID:8547559 12192386 PON1 paraoxonase 1 gene DOID:10283 prostate cancer ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:increased activity:serum (human) PMID:23768700|REF_RGD_ID:8547662 12192386 PON1 paraoxonase 1 gene DOID:1040 chronic lymphocytic leukemia susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) PMID:26254371|REF_RGD_ID:11073982 12192386 PON1 paraoxonase 1 gene DOID:10603 glucose intolerance ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:SNP:CDS:amino acid L55M, LL genotype PMID:11889198|REF_RGD_ID:1642628 12192386 PON1 paraoxonase 1 gene DOID:10608 celiac disease ISO RGD:1349272 D RGD:9068941 20200609 RGD mRNA:decreased expression:duodenum PMID:17664137|REF_RGD_ID:5509924 12192386 PON1 paraoxonase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:polymorphisms:multiple SNPs PMID:16319130|REF_RGD_ID:5509926 12192386 PON1 paraoxonase 1 gene DOID:1067 open-angle glaucoma ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) PMID:16411107|REF_RGD_ID:8547552 12192386 PON1 paraoxonase 1 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:snp:cds:p.Q192R (rs662) (human) PMID:22553514|REF_RGD_ID:8547563 12192386 PON1 paraoxonase 1 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:19155603|REF_RGD_ID:8547556 12192386 PON1 paraoxonase 1 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) PMID:20042177|REF_RGD_ID:8547668 12192386 PON1 paraoxonase 1 gene DOID:10923 sickle cell anemia ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity: serum (human) PMID:24508012|REF_RGD_ID:11553835 12192386 PON1 paraoxonase 1 gene DOID:11054 urinary bladder cancer ISO RGD:1349272 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 12192386 PON1 paraoxonase 1 gene DOID:11123 Henoch-Schoenlein purpura susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) PMID:19967651|REF_RGD_ID:11552576 12192386 PON1 paraoxonase 1 gene DOID:114 heart disease ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28396702 12192386 PON1 paraoxonase 1 gene DOID:11713 diabetic angiopathy ISO RGD:1349272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 5 PMID:11335891|PMID:11788650|PMID:11889198|PMID:11918623|PMID:9011577|PMID:9661650 12192386 PON1 paraoxonase 1 gene DOID:11758 iron deficiency anemia ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:16684543|REF_RGD_ID:11552586 12192386 PON1 paraoxonase 1 gene DOID:11758 iron deficiency anemia treatment ISO RGD:1349272 D RGD:9068941 20200609 RGD PMID:26926576|REF_RGD_ID:11553834 12192386 PON1 paraoxonase 1 gene DOID:11840 coronary artery vasospasm ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11810302 12192386 PON1 paraoxonase 1 gene DOID:12241 beta thalassemia ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:26608512|REF_RGD_ID:11552583 12192386 PON1 paraoxonase 1 gene DOID:12336 male infertility ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21561808|PMID:22206979 12192386 PON1 paraoxonase 1 gene DOID:12849 autistic disorder ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16027737|PMID:16297937|PMID:22490277 12192386 PON1 paraoxonase 1 gene DOID:1287 cardiovascular system disease ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15169886|PMID:19152805 12192386 PON1 paraoxonase 1 gene DOID:12894 Sjogren's syndrome ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:20497955|REF_RGD_ID:8547550 12192386 PON1 paraoxonase 1 gene DOID:1307 dementia susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:snp, missense mutation, haplotype:promoter, cds:g.-107T>C, p.Q129R (human) PMID:15016430|REF_RGD_ID:1358562 12192386 PON1 paraoxonase 1 gene DOID:13241 Behcet's disease ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:15377545|REF_RGD_ID:8547573 12192386 PON1 paraoxonase 1 gene DOID:13548 secondary Parkinson disease ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457621 12192386 PON1 paraoxonase 1 gene DOID:13580 cholestasis ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12192386 PON1 paraoxonase 1 gene DOID:13641 exfoliation syndrome ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:19628957|REF_RGD_ID:8547685 12192386 PON1 paraoxonase 1 gene DOID:14400 capillary leak syndrome susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:snp:intron:c.75-1136G>A (rs3917490) (human) PMID:24808988|REF_RGD_ID:11553829 12192386 PON1 paraoxonase 1 gene DOID:1596 depressive disorder ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19272368 12192386 PON1 paraoxonase 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.Q192R (human) PMID:17428620|REF_RGD_ID:8661246 12192386 PON1 paraoxonase 1 gene DOID:1727 retinal vein occlusion ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:18084236|REF_RGD_ID:8547555 12192386 PON1 paraoxonase 1 gene DOID:1727 retinal vein occlusion susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L55M (human) PMID:23441121|REF_RGD_ID:8547547 12192386 PON1 paraoxonase 1 gene DOID:1936 atherosclerosis ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16216721|PMID:16229851|PMID:16331452|PMID:19371607|PMID:21629682|PMID:26241956 12192386 PON1 paraoxonase 1 gene DOID:1936 atherosclerosis ISO RGD:1349272 D RGD:9068941 20200609 RGD mRNA:altered expression::human transgene expression in ApoE-KO mice was protective PMID:20182519|REF_RGD_ID:5509927 12192386 PON1 paraoxonase 1 gene DOID:1936 atherosclerosis susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia;protein:decreased activity:serum (human) PMID:21427447|REF_RGD_ID:11552582 12192386 PON1 paraoxonase 1 gene DOID:1936 atherosclerosis treatment ISO RGD:733240 D RGD:9068941 20200609 RGD PMID:16043712|PMID:20660283|REF_RGD_ID:8547562|REF_RGD_ID:8547574 12192386 PON1 paraoxonase 1 gene DOID:2349 arteriosclerosis ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X PMID:16627808|REF_RGD_ID:2313273 12192386 PON1 paraoxonase 1 gene DOID:2355 anemia severity ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Gastrointestinal Neoplasms;protein:decreased activity:serum (human) PMID:18423402|REF_RGD_ID:11552571 12192386 PON1 paraoxonase 1 gene DOID:2355 anemia treatment ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic PMID:17324148|REF_RGD_ID:11552579 12192386 PON1 paraoxonase 1 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16175651 12192386 PON1 paraoxonase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:16380766|REF_RGD_ID:8547571 12192386 PON1 paraoxonase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1349272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12192386 PON1 paraoxonase 1 gene DOID:3388 periodontal disease ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19003935 12192386 PON1 paraoxonase 1 gene DOID:3393 coronary artery disease ISO RGD:1349272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery spasm 2, susceptibility to PMID:11238489|PMID:11810302|PMID:11888590|PMID:12082503|PMID:15241482|PMID:21170047|PMID:7916578|PMID:8098250|PMID:8675673|PMID:8770857|PMID:9215303|PMID:9385372|PMID:9443884 12192386 PON1 paraoxonase 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q192R (human) PMID:10729395|REF_RGD_ID:1580196 12192386 PON1 paraoxonase 1 gene DOID:3526 cerebral infarction susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q192R (human) PMID:10729395|REF_RGD_ID:1580196 12192386 PON1 paraoxonase 1 gene DOID:3602 toxic encephalopathy ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21329748 12192386 PON1 paraoxonase 1 gene DOID:4195 hyperglycemia treatment ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:23267397|REF_RGD_ID:8547670 12192386 PON1 paraoxonase 1 gene DOID:4448 macular degeneration ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:23432778|REF_RGD_ID:8547561 12192386 PON1 paraoxonase 1 gene DOID:4448 macular degeneration no_association ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) PMID:15488805|REF_RGD_ID:8547582 12192386 PON1 paraoxonase 1 gene DOID:4448 macular degeneration no_association ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (rs662, rs854560) (human) PMID:15774926|REF_RGD_ID:8547659 12192386 PON1 paraoxonase 1 gene DOID:4448 macular degeneration susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) PMID:23538572|REF_RGD_ID:8547549 12192386 PON1 paraoxonase 1 gene DOID:4448 macular degeneration susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:snps:promoter, 5' utr:multiple (human) PMID:22956172|REF_RGD_ID:8547551 12192386 PON1 paraoxonase 1 gene DOID:4481 allergic rhinitis severity ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (human) PMID:23406590|REF_RGD_ID:8547583 12192386 PON1 paraoxonase 1 gene DOID:4491 persian gulf syndrome ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10373407 12192386 PON1 paraoxonase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12192386 PON1 paraoxonase 1 gene DOID:576 proteinuria ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:decreased activity:serum (human) PMID:9591753|REF_RGD_ID:8547663 12192386 PON1 paraoxonase 1 gene DOID:5844 myocardial infarction ISO RGD:1349272 D RGD:9068941 20200609 RGD PMID:10610741|PMID:10978258|REF_RGD_ID:1580198|REF_RGD_ID:1580202 12192386 PON1 paraoxonase 1 gene DOID:6000 congestive heart failure ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 12192386 PON1 paraoxonase 1 gene DOID:630 genetic disease ISO RGD:1349272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192386 PON1 paraoxonase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1349272 D RGD:9068941 20220901 RGD mRNA:decreased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 12192386 PON1 paraoxonase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16055108 12192386 PON1 paraoxonase 1 gene DOID:7998 hyperthyroidism ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14678291 12192386 PON1 paraoxonase 1 gene DOID:83 cataract ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:decreased activity:eye, lens (human) PMID:19439227|REF_RGD_ID:8547553 12192386 PON1 paraoxonase 1 gene DOID:8577 ulcerative colitis ISO RGD:1349272 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon PMID:17664137|REF_RGD_ID:5509924 12192386 PON1 paraoxonase 1 gene DOID:8778 Crohn's disease ISO RGD:1349272 D RGD:9068941 20200609 RGD mRNA:decreased expression:terminal ileum PMID:17664137|REF_RGD_ID:5509924 12192386 PON1 paraoxonase 1 gene DOID:8947 diabetic retinopathy ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20012460|PMID:9661650 12192386 PON1 paraoxonase 1 gene DOID:8947 diabetic retinopathy ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:decreased activity:serum (human) PMID:20012460|REF_RGD_ID:8547537 12192386 PON1 paraoxonase 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:g.-907C>G (human) PMID:16949520|REF_RGD_ID:2313272 12192386 PON1 paraoxonase 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.Q192R (human) PMID:15270786|REF_RGD_ID:8547548 12192386 PON1 paraoxonase 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;DNA:missense mutation:cds:p.L55M (rs854560) (human) PMID:24100645|REF_RGD_ID:8547572 12192386 PON1 paraoxonase 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:620062 D RGD:9068941 20200609 RGD PMID:12897486|REF_RGD_ID:8547682 12192386 PON1 paraoxonase 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1349272 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 12192386 PON1 paraoxonase 1 gene DOID:9000528 Coronary Disease ISO RGD:1349272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease, susceptibility to PMID:11238489|PMID:11335891|PMID:11788650|PMID:11810302|PMID:11888590|PMID:11889198|PMID:11918623|PMID:12082503|PMID:15241482|PMID:21170047|PMID:7916578|PMID:8098250|PMID:8675673|PMID:8770857|PMID:9011577|PMID:9215303|PMID:9385372|PMID:9443884|PMID:9661650 12192386 PON1 paraoxonase 1 gene DOID:9000528 Coronary Disease no_association ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q192R (human) PMID:15214960|REF_RGD_ID:8547675 12192386 PON1 paraoxonase 1 gene DOID:9000528 Coronary Disease severity ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19005291|REF_RGD_ID:2313267 12192386 PON1 paraoxonase 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16229851 12192386 PON1 paraoxonase 1 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25463530|PMID:28396702 12192386 PON1 paraoxonase 1 gene DOID:9001472 Nasal Polyps ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:23238704|REF_RGD_ID:8547666 12192386 PON1 paraoxonase 1 gene DOID:9001542 Albuminuria ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, cds (human) PMID:16949520|REF_RGD_ID:2313272 12192386 PON1 paraoxonase 1 gene DOID:9001581 Constipation ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19022366 12192386 PON1 paraoxonase 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26241956 12192386 PON1 paraoxonase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26884296 12192386 PON1 paraoxonase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19207863|REF_RGD_ID:2313266 12192386 PON1 paraoxonase 1 gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;DNA:missense mutations:cds:p.L55M, p.Q192R (rs854560, rs662) (human) PMID:24100645|REF_RGD_ID:8547572 12192386 PON1 paraoxonase 1 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.Q192R (human) PMID:15270786|REF_RGD_ID:8547548 12192386 PON1 paraoxonase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12783936|PMID:15538743|PMID:21716162 12192386 PON1 paraoxonase 1 gene DOID:9002564 Arteritis ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19022366 12192386 PON1 paraoxonase 1 gene DOID:9002661 Diabetes Complications ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19003935 12192386 PON1 paraoxonase 1 gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002382 12192386 PON1 paraoxonase 1 gene DOID:9003996 Birth Weight ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17237730 12192386 PON1 paraoxonase 1 gene DOID:9004968 Yin Deficiency ISO RGD:620062 D RGD:9068941 20220908 RGD protein:decreased expression:serum PMID:27843478|REF_RGD_ID:153350089 12192386 PON1 paraoxonase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16323636 12192386 PON1 paraoxonase 1 gene DOID:9005292 Organophosphate Poisoning ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11022865|PMID:20581384|PMID:20981111|PMID:23123254|PMID:24326413|PMID:26340881|PMID:28070599 12192386 PON1 paraoxonase 1 gene DOID:9005463 Occupational Diseases ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22800774 12192386 PON1 paraoxonase 1 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16030523|PMID:16238680 12192386 PON1 paraoxonase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1349272 D RGD:9068941 20200609 RGD PMID:18358245|REF_RGD_ID:2313268 12192386 PON1 paraoxonase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733240 D RGD:9068941 20200609 RGD PMID:18358245|REF_RGD_ID:2313268 12192386 PON1 paraoxonase 1 gene DOID:9006532 Hematologic Neoplasms ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22800774 12192386 PON1 paraoxonase 1 gene DOID:9006532 Hematologic Neoplasms susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q192R (human) PMID:22800774|REF_RGD_ID:11552572 12192386 PON1 paraoxonase 1 gene DOID:9006538 Agricultural Workers' Diseases ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15982977|PMID:18430447 12192386 PON1 paraoxonase 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21573798 12192386 PON1 paraoxonase 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum PMID:14602783|REF_RGD_ID:1642618 12192386 PON1 paraoxonase 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26839999 12192386 PON1 paraoxonase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 12192386 PON1 paraoxonase 1 gene DOID:9007502 Brain Neoplasms ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002382 12192386 PON1 paraoxonase 1 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15324535 12192386 PON1 paraoxonase 1 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:620062 D RGD:9068941 20200609 RGD PMID:11015468|REF_RGD_ID:731237 12192386 PON1 paraoxonase 1 gene DOID:9007571 Hyperlipoproteinemias treatment ISO RGD:1349272 D RGD:9068941 20200609 RGD PMID:15324535|REF_RGD_ID:8547684 12192386 PON1 paraoxonase 1 gene DOID:9007692 Insulin Resistance ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:SNP:CDS:p.L55M (human), LL genotype (P < 0.001) PMID:11788650|REF_RGD_ID:1642617 12192386 PON1 paraoxonase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1349272 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31004929 12192386 PON1 paraoxonase 1 gene DOID:9279 hyperhomocysteinemia ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17292331|PMID:19028542 12192386 PON1 paraoxonase 1 gene DOID:9351 diabetes mellitus ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16229851|PMID:19022366 12192386 PON1 paraoxonase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.Q192R (human) PMID:18290860|REF_RGD_ID:2313269 12192386 PON1 paraoxonase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17949258|REF_RGD_ID:2313270 12192386 PON1 paraoxonase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19328014|REF_RGD_ID:2307252 12192386 PON1 paraoxonase 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) PMID:9591753|REF_RGD_ID:8547663 12192386 PON1 paraoxonase 1 gene DOID:9352 type 2 diabetes mellitus severity ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetic Retinopathy;DNA:missense mutations:cds:p.L55M, p.Q192R (human) PMID:10677395|REF_RGD_ID:8547560 12192386 PON1 paraoxonase 1 gene DOID:9452 fatty liver disease ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26945512 12192386 PON1 paraoxonase 1 gene DOID:9538 multiple myeloma severity ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:25520116|REF_RGD_ID:11552578 12192386 PON1 paraoxonase 1 gene DOID:9538 multiple myeloma susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q192R (human) PMID:15136237|REF_RGD_ID:10450846 12192386 PON1 paraoxonase 1 gene DOID:9538 multiple myeloma treatment ISO RGD:1349272 D RGD:9068941 20200609 RGD PMID:22348216|REF_RGD_ID:11040544 12192386 PON1 paraoxonase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17949258|REF_RGD_ID:2313270 12192386 PON1 paraoxonase 1 gene DOID:9746 hemorrhoid ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19022366 12192386 PON1 paraoxonase 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M (rs854560), p.Q192R (rs662) (human) PMID:22976839|REF_RGD_ID:11552580 12192399 TES testin LIM domain protein gene DOID:3068 glioblastoma ISO RGD:1603311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16909125 12192399 TES testin LIM domain protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12192399 TES testin LIM domain protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12192399 TES testin LIM domain protein gene DOID:630 genetic disease ISO RGD:1603311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192399 TES testin LIM domain protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12192408 RMND1 required for meiotic nuclear division 1 homolog gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1319942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder PMID:24033266|PMID:25058219|PMID:25326635|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:31506229|PMID:31568715|PMID:32576985 12192408 RMND1 required for meiotic nuclear division 1 homolog gene DOID:0111112 nephronophthisis 1 ISO RGD:1319942 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:24033266|PMID:25058219|PMID:25326635|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:31506229|PMID:31568715|PMID:32576985 12192408 RMND1 required for meiotic nuclear division 1 homolog gene DOID:0111481 combined oxidative phosphorylation deficiency 11 ISO RGD:1319942 D RGD:7240710 20180130 OMIM 12192408 RMND1 required for meiotic nuclear division 1 homolog gene DOID:0111481 combined oxidative phosphorylation deficiency 11 ISO RGD:1319942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 11 PMID:18835491|PMID:23022098|PMID:23022099|PMID:24033266|PMID:25058219|PMID:25326635|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:31506229|PMID:31568715|PMID:31981491|PMID:32576985 12192408 RMND1 required for meiotic nuclear division 1 homolog gene DOID:12712 nephronophthisis ISO RGD:1319942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:24033266|PMID:25058219|PMID:25326635|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:31506229|PMID:31568715|PMID:32576985 12192408 RMND1 required for meiotic nuclear division 1 homolog gene DOID:630 genetic disease ISO RGD:1319942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25058219|PMID:25741868|PMID:27412952|PMID:28492532 12192408 RMND1 required for meiotic nuclear division 1 homolog gene DOID:700 mitochondrial metabolism disease ISO RGD:1319942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:23022098|PMID:24033266|PMID:25058219|PMID:25326635|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:31506229|PMID:31568715|PMID:32576985 12192408 RMND1 required for meiotic nuclear division 1 homolog gene DOID:9006534 Nervous System Malformations ISO RGD:1319942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:18835491|PMID:23022099|PMID:25741868 12192408 RMND1 required for meiotic nuclear division 1 homolog gene DOID:9008939 Breast Neoplasms ISO RGD:1319942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12192438 FABP7 fatty acid binding protein 7 gene DOID:1826 epilepsy ISO RGD:1353760 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12192438 FABP7 fatty acid binding protein 7 gene DOID:3068 glioblastoma severity ISO RGD:1353760 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain (human) PMID:15827123|REF_RGD_ID:1578468 12192438 FABP7 fatty acid binding protein 7 gene DOID:630 genetic disease ISO RGD:1353760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192438 FABP7 fatty acid binding protein 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 12192438 FABP7 fatty acid binding protein 7 gene DOID:9008939 Breast Neoplasms ISO RGD:1353760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22322885 12192452 CHD9 chromodomain helicase DNA binding protein 9 gene DOID:630 genetic disease ISO RGD:1315612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192511 KDM1A lysine demethylase 1A gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 12192511 KDM1A lysine demethylase 1A gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 12192511 KDM1A lysine demethylase 1A gene DOID:1059 intellectual disability ISO RGD:1346422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12192511 KDM1A lysine demethylase 1A gene DOID:1612 breast cancer ISO RGD:1562975 D RGD:9068941 20200609 RGD protein:increased expression:breast (rat) PMID:23516587|REF_RGD_ID:9588313 12192511 KDM1A lysine demethylase 1A gene DOID:1612 breast cancer severity ISO RGD:1346422 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:22199269|REF_RGD_ID:9586031 12192511 KDM1A lysine demethylase 1A gene DOID:1909 melanoma ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 12192511 KDM1A lysine demethylase 1A gene DOID:224 transient cerebral ischemia ISO RGD:1562975 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, hippocampus, dentate gyrus (rat) PMID:20542065|REF_RGD_ID:9588301 12192511 KDM1A lysine demethylase 1A gene DOID:3908 lung non-small cell carcinoma ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22493729 12192511 KDM1A lysine demethylase 1A gene DOID:5419 schizophrenia ISO RGD:1562975 D RGD:9068941 20200609 RGD protein:altered expression:prefrontal cortex (rat) PMID:23932495|REF_RGD_ID:9586022 12192511 KDM1A lysine demethylase 1A gene DOID:630 genetic disease ISO RGD:1346422 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 12192511 KDM1A lysine demethylase 1A gene DOID:684 hepatocellular carcinoma severity ISO RGD:1346422 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (human) PMID:23236241|REF_RGD_ID:9681002 12192511 KDM1A lysine demethylase 1A gene DOID:8947 diabetic retinopathy ISO RGD:1346422 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (human) PMID:23423566|REF_RGD_ID:8547881 12192511 KDM1A lysine demethylase 1A gene DOID:8947 diabetic retinopathy ISO RGD:1558503 D RGD:9068941 20200609 RGD PMID:23423566|REF_RGD_ID:8547881 12192511 KDM1A lysine demethylase 1A gene DOID:8947 diabetic retinopathy ISO RGD:1562975 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina (rat) PMID:23423566|REF_RGD_ID:8547881 12192511 KDM1A lysine demethylase 1A gene DOID:9000918 Disease Progression ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22493729 12192511 KDM1A lysine demethylase 1A gene DOID:9001445 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features ISO RGD:1346422 D RGD:7240710 20180130 OMIM 12192511 KDM1A lysine demethylase 1A gene DOID:9001445 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features ISO RGD:1346422 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features | ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies PMID:23020937|PMID:24838796|PMID:25741868|PMID:26656649|PMID:27094131|PMID:28492532 12192511 KDM1A lysine demethylase 1A gene DOID:9001827 Critical Illness ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22493729 12192511 KDM1A lysine demethylase 1A gene DOID:9002221 Hyperplasia ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22493729 12192511 KDM1A lysine demethylase 1A gene DOID:9002928 Colonic Neoplasms ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25043185 12192511 KDM1A lysine demethylase 1A gene DOID:9004118 Experimental Melanoma ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 12192511 KDM1A lysine demethylase 1A gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22493729 12192511 KDM1A lysine demethylase 1A gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1346422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12192511 KDM1A lysine demethylase 1A gene DOID:9008086 Developmental Disabilities ISO RGD:1346422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12192511 KDM1A lysine demethylase 1A gene DOID:986 alopecia areata ISO RGD:1346422 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:21936853|REF_RGD_ID:9587460 12192539 KAT6B lysine acetyltransferase 6B gene DOID:0060263 porencephaly ISO RGD:1353532 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY PMID:25741868 12192539 KAT6B lysine acetyltransferase 6B gene DOID:0060290 blepharophimosis-intellectual disability syndrome, SBBYS type ISO RGD:1353532 D RGD:7240710 20180130 OMIM 12192539 KAT6B lysine acetyltransferase 6B gene DOID:0060290 blepharophimosis-intellectual disability syndrome, SBBYS type ISO RGD:1353532 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type PMID:18798845|PMID:21344633|PMID:22077973|PMID:22265014|PMID:22715153|PMID:23236640|PMID:23436491|PMID:25326637|PMID:25424711|PMID:25741868|PMID:25741872|PMID:26334766|PMID:26938784|PMID:27696664|PMID:28492532|PMID:28758091|PMID:30353918|PMID:32424177|PMID:8055130 12192539 KAT6B lysine acetyltransferase 6B gene DOID:0080204 renal hypoplasia ISO RGD:1353532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypoplasia PMID:25741868 12192539 KAT6B lysine acetyltransferase 6B gene DOID:0080205 CAKUT ISO RGD:1353532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:30143558 12192539 KAT6B lysine acetyltransferase 6B gene DOID:0090125 brain small vessel disease 1 ISO RGD:1353532 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GOULD SYNDROME 1 PMID:25741868 12192539 KAT6B lysine acetyltransferase 6B gene DOID:0111547 retinal arterial tortuosity ISO RGD:1353532 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinal arterial tortuosity PMID:25741868 12192539 KAT6B lysine acetyltransferase 6B gene DOID:10348 blepharophimosis ISO RGD:1353532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:25741868 12192539 KAT6B lysine acetyltransferase 6B gene DOID:1059 intellectual disability ISO RGD:1353532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23236640|PMID:25424711|PMID:25741868|PMID:26334766|PMID:28492532 12192539 KAT6B lysine acetyltransferase 6B gene DOID:10892 hypospadias ISO RGD:1353532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:25741868 12192539 KAT6B lysine acetyltransferase 6B gene DOID:11383 cryptorchidism ISO RGD:1353532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptorchidism PMID:25741868 12192539 KAT6B lysine acetyltransferase 6B gene DOID:127 leiomyoma ISO RGD:1353532 D RGD:9068941 20200609 RGD DNA:translocation:intron:IVS3 (human) PMID:15313893|REF_RGD_ID:9590338 12192539 KAT6B lysine acetyltransferase 6B gene DOID:12712 nephronophthisis ISO RGD:1353532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532|PMID:30143558 12192539 KAT6B lysine acetyltransferase 6B gene DOID:14780 KBG syndrome ISO RGD:1353532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:25741868 12192539 KAT6B lysine acetyltransferase 6B gene DOID:1612 breast cancer ISO RGD:1353532 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.D1516Y, p.R1577C (human) PMID:23800003|REF_RGD_ID:9590339 12192539 KAT6B lysine acetyltransferase 6B gene DOID:1826 epilepsy ISO RGD:1353532 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12192539 KAT6B lysine acetyltransferase 6B gene DOID:2340 craniosynostosis ISO RGD:1353532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 12192539 KAT6B lysine acetyltransferase 6B gene DOID:3070 high grade glioma ISO RGD:1353532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12192539 KAT6B lysine acetyltransferase 6B gene DOID:3312 bipolar disorder ISO RGD:1353532 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:24444492|REF_RGD_ID:9588521 12192539 KAT6B lysine acetyltransferase 6B gene DOID:3490 Noonan syndrome ISO RGD:1617572 D RGD:9068941 20200609 RGD PMID:21804188|REF_RGD_ID:9590337 12192539 KAT6B lysine acetyltransferase 6B gene DOID:3490 Noonan syndrome ISO RGD:1617572 D RGD:9068941 20220825 MouseDO 12192539 KAT6B lysine acetyltransferase 6B gene DOID:630 genetic disease ISO RGD:1353532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22265014|PMID:23436491|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29226580|PMID:32424177 12192539 KAT6B lysine acetyltransferase 6B gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1353532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12192539 KAT6B lysine acetyltransferase 6B gene DOID:9002417 Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant ISO RGD:1353532 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microangiopathy and leukoencephalopathy, pontine, autosomal dominant PMID:25741868 12192539 KAT6B lysine acetyltransferase 6B gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1353532 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intracerebral hemorrhage PMID:25741868 12192539 KAT6B lysine acetyltransferase 6B gene DOID:9003529 Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps ISO RGD:1353532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps PMID:25741868 12192539 KAT6B lysine acetyltransferase 6B gene DOID:9003591 Telecanthus ISO RGD:1353532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Telecanthus PMID:25741868 12192539 KAT6B lysine acetyltransferase 6B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12192539 KAT6B lysine acetyltransferase 6B gene DOID:9005367 Arachnodactyly ISO RGD:1353532 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arachnodactyly 12192539 KAT6B lysine acetyltransferase 6B gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1353532 D RGD:7240710 20180130 OMIM 12192539 KAT6B lysine acetyltransferase 6B gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1353532 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM, AND MENTAL RETARDATION | ClinVar Annotator: match by term: Autosomal dominant KAT6B-related disorders | ClinVar Annotator: match by term: Genitopatellar syndrome | ClinVar Annotator: match by term: KAT6B-Related Spectrum Disorders PMID:12210329|PMID:12210330|PMID:16761293|PMID:17576681|PMID:21344633|PMID:22077973|PMID:22265014|PMID:22265017|PMID:22715153|PMID:23236640|PMID:23436491|PMID:24033266|PMID:25326635|PMID:25424711|PMID:25473036|PMID:25741868|PMID:25741872|PMID:25937001|PMID:26938784|PMID:27880066|PMID:28166811|PMID:28492532|PMID:28696035|PMID:28758091|PMID:29226580|PMID:30143558|PMID:30919572|PMID:32170002|PMID:32424177|PMID:33004838|PMID:9536098 12192539 KAT6B lysine acetyltransferase 6B gene DOID:9006249 RADIO-TARTAGLIA SYNDROME ISO RGD:1353532 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Radio-Tartaglia syndrome PMID:25741868|PMID:28492532 12192539 KAT6B lysine acetyltransferase 6B gene DOID:9008086 Developmental Disabilities ISO RGD:1353532 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:36937954 12192539 KAT6B lysine acetyltransferase 6B gene DOID:9620 vesicoureteral reflux ISO RGD:1353532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vesico-Ureteral Reflux PMID:25741868 12192564 USP20 ubiquitin specific peptidase 20 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1313758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12192564 USP20 ubiquitin specific peptidase 20 gene DOID:630 genetic disease ISO RGD:1313758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192597 RBM10 RNA binding motif protein 10 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12192597 RBM10 RNA binding motif protein 10 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:732878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 12192597 RBM10 RNA binding motif protein 10 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:732878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12192597 RBM10 RNA binding motif protein 10 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:732878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12192597 RBM10 RNA binding motif protein 10 gene DOID:0111780 TARP syndrome ISO RGD:732878 D RGD:7240710 20180130 OMIM 12192597 RBM10 RNA binding motif protein 10 gene DOID:0111780 TARP syndrome ISO RGD:732878 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: TARP syndrome PMID:20451169|PMID:21910224|PMID:24259342|PMID:25741868|PMID:28492532|PMID:30462380|PMID:32812661|PMID:5410571 12192597 RBM10 RNA binding motif protein 10 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:732878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 12192597 RBM10 RNA binding motif protein 10 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:732878 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12192597 RBM10 RNA binding motif protein 10 gene DOID:1059 intellectual disability ISO RGD:732878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12192597 RBM10 RNA binding motif protein 10 gene DOID:12849 autistic disorder ISO RGD:732878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12192597 RBM10 RNA binding motif protein 10 gene DOID:1324 lung cancer onset ISO RGD:732878 D RGD:9068941 20220224 RGD PMID:33219256|REF_RGD_ID:150429789 12192597 RBM10 RNA binding motif protein 10 gene DOID:3910 lung adenocarcinoma ISO RGD:732878 D RGD:9068941 20220224 RGD PMID:30955253|REF_RGD_ID:151356984 12192597 RBM10 RNA binding motif protein 10 gene DOID:3910 lung adenocarcinoma ISO RGD:732878 D RGD:9068941 20220224 RGD DNA:missense mutations, protein-truncating variants: :multiple PMID:22980975|REF_RGD_ID:11097386 12192597 RBM10 RNA binding motif protein 10 gene DOID:3910 lung adenocarcinoma ISO RGD:732878 D RGD:9068941 20220224 RGD mRNA, protein:decreased expression:lung PMID:29085465|REF_RGD_ID:151356983 12192597 RBM10 RNA binding motif protein 10 gene DOID:6000 congestive heart failure ISO RGD:631366 D RGD:9068941 20220414 RGD protein:decreased expression:heart PMID:30257214|REF_RGD_ID:151667449 12192597 RBM10 RNA binding motif protein 10 gene DOID:630 genetic disease ISO RGD:732878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15853797|PMID:28492532 12192597 RBM10 RNA binding motif protein 10 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:732878 D RGD:9068941 20220224 RGD mRNA:decreased expression:liver PMID:32572914|REF_RGD_ID:151356975 12192597 RBM10 RNA binding motif protein 10 gene DOID:9000081 Lymphatic Metastasis ISO RGD:732878 D RGD:9068941 20220224 RGD associated with lung adenocarcinoma;DNA:missense mutation:exon:p.R241C (c.763C>T) (human) PMID:30405763|REF_RGD_ID:151356993 12192597 RBM10 RNA binding motif protein 10 gene DOID:9003936 Cardiomegaly ISO RGD:631366 D RGD:9068941 20220414 RGD protein:decreased expression:heart PMID:30257214|REF_RGD_ID:151667449 12192597 RBM10 RNA binding motif protein 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12192597 RBM10 RNA binding motif protein 10 gene DOID:9256 colorectal cancer onset ISO RGD:732878 D RGD:9068941 20220224 RGD PMID:33194656|REF_RGD_ID:151356979 12192624 IGF2BP3 insulin like growth factor 2 mRNA binding protein 3 gene DOID:0070297 primary microcephaly ISO RGD:1606570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:25741868 12192624 IGF2BP3 insulin like growth factor 2 mRNA binding protein 3 gene DOID:1790 malignant mesothelioma ISO RGD:1606570 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23621518 12192624 IGF2BP3 insulin like growth factor 2 mRNA binding protein 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12192624 IGF2BP3 insulin like growth factor 2 mRNA binding protein 3 gene DOID:630 genetic disease ISO RGD:1606570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192624 IGF2BP3 insulin like growth factor 2 mRNA binding protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1606570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12192624 IGF2BP3 insulin like growth factor 2 mRNA binding protein 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12192624 IGF2BP3 insulin like growth factor 2 mRNA binding protein 3 gene DOID:9001834 Peritoneal Neoplasms ISO RGD:1606570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23621518 12192646 HOXA10 homeobox A10 gene DOID:299 adenocarcinoma ISO RGD:1320375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21670700 12192646 HOXA10 homeobox A10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320375 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12192646 HOXA10 homeobox A10 gene DOID:630 genetic disease ISO RGD:1320375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192646 HOXA10 homeobox A10 gene DOID:684 hepatocellular carcinoma ISO RGD:1320375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12192646 HOXA10 homeobox A10 gene DOID:9002739 Female Urogenital Diseases ISO RGD:1320375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 12192646 HOXA10 homeobox A10 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1320375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21670700 12192650 AKR1D1 aldo-keto reductase family 1 member D1 gene DOID:0050674 congenital bile acid synthesis defect ISO RGD:736637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 12192650 AKR1D1 aldo-keto reductase family 1 member D1 gene DOID:0111069 congenital bile acid synthesis defect 2 ISO RGD:736637 D RGD:7240710 20210114 OMIM 12192650 AKR1D1 aldo-keto reductase family 1 member D1 gene DOID:0111069 congenital bile acid synthesis defect 2 ISO RGD:736637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 2 PMID:12970144|PMID:15030995|PMID:16199547|PMID:19175828|PMID:20522910|PMID:21185810|PMID:23679950|PMID:25741868|PMID:28492532|PMID:8707100 12192650 AKR1D1 aldo-keto reductase family 1 member D1 gene DOID:2352 hemochromatosis ISO RGD:736637 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:18624455 12192650 AKR1D1 aldo-keto reductase family 1 member D1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12192650 AKR1D1 aldo-keto reductase family 1 member D1 gene DOID:630 genetic disease ISO RGD:736637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12192667 PINLYP phospholipase A2 inhibitor and LY6/PLAUR domain containing gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:6771275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12192667 PINLYP phospholipase A2 inhibitor and LY6/PLAUR domain containing gene DOID:5419 schizophrenia ISO RGD:6771275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12192667 PINLYP phospholipase A2 inhibitor and LY6/PLAUR domain containing gene DOID:630 genetic disease ISO RGD:6771275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192676 LIN37 lin-37 DREAM MuvB core complex component gene DOID:0110222 Brugada syndrome 5 ISO RGD:1603391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12192676 LIN37 lin-37 DREAM MuvB core complex component gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12192676 LIN37 lin-37 DREAM MuvB core complex component gene DOID:543 dystonia ISO RGD:1603391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12192676 LIN37 lin-37 DREAM MuvB core complex component gene DOID:630 genetic disease ISO RGD:1603391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192689 PCP2 Purkinje cell protein 2 gene DOID:0080490 mucolipidosis type IV ISO RGD:1314709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12192689 PCP2 Purkinje cell protein 2 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1314709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 12192689 PCP2 Purkinje cell protein 2 gene DOID:630 genetic disease ISO RGD:1314709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192706 OR52W1 olfactory receptor family 52 subfamily W member 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1353462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12192706 OR52W1 olfactory receptor family 52 subfamily W member 1 gene DOID:630 genetic disease ISO RGD:1353462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192711 BFSP1 beaded filament structural protein 1 gene DOID:0110264 cataract 33 ISO RGD:737302 D RGD:7240710 20180130 OMIM 12192711 BFSP1 beaded filament structural protein 1 gene DOID:0110264 cataract 33 ISO RGD:737302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 33 PMID:12454043|PMID:14638724|PMID:17225135|PMID:24281366|PMID:24379646|PMID:25741868|PMID:26694549|PMID:28450710|PMID:28492532 12192711 BFSP1 beaded filament structural protein 1 gene DOID:12270 coloboma ISO RGD:737302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:24281366|PMID:28492532 12192711 BFSP1 beaded filament structural protein 1 gene DOID:630 genetic disease ISO RGD:737302 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12192711 BFSP1 beaded filament structural protein 1 gene DOID:83 cataract ISO RGD:737302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 12192736 LPIN3 lipin 3 gene DOID:2234 focal epilepsy ISO RGD:1342644 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12192736 LPIN3 lipin 3 gene DOID:630 genetic disease ISO RGD:1342644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192772 ABHD17C abhydrolase domain containing 17C, depalmitoylase gene DOID:0050726 tyrosinemia type I ISO RGD:1603613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:28492532 12192772 ABHD17C abhydrolase domain containing 17C, depalmitoylase gene DOID:2717 Bloom syndrome ISO RGD:1603613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12192772 ABHD17C abhydrolase domain containing 17C, depalmitoylase gene DOID:630 genetic disease ISO RGD:1603613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192772 ABHD17C abhydrolase domain containing 17C, depalmitoylase gene DOID:9256 colorectal cancer ISO RGD:1603613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12192779 SPG7 SPG7 matrix AAA peptidase subunit, paraplegin gene DOID:0110816 hereditary spastic paraplegia 7 ISO RGD:1551589 D RGD:9068941 20220825 MouseDO OMIM:607259 12192800 SDK1 sidekick cell adhesion molecule 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1352696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12192800 SDK1 sidekick cell adhesion molecule 1 gene DOID:10283 prostate cancer ISO RGD:1352696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12192800 SDK1 sidekick cell adhesion molecule 1 gene DOID:11372 megacolon ISO RGD:1352696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12192800 SDK1 sidekick cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:1352696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192858 MAGEH1 MAGE family member H1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12192858 MAGEH1 MAGE family member H1 gene DOID:12849 autistic disorder ISO RGD:1349577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12192858 MAGEH1 MAGE family member H1 gene DOID:630 genetic disease ISO RGD:1349577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192872 CHERP calcium homeostasis endoplasmic reticulum protein gene DOID:630 genetic disease ISO RGD:1313214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192938 BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 gene DOID:0060546 Hermansky-Pudlak syndrome 8 ISO RGD:1321173 D RGD:7240710 20180130 OMIM 12192938 BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 gene DOID:0060546 Hermansky-Pudlak syndrome 8 ISO RGD:1321173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 8 PMID:16385460|PMID:22709368|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29345414 12192938 BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1321173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12192938 BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1321173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:25741868|PMID:31064749 12192938 BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 gene DOID:630 genetic disease ISO RGD:1321173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12192949 RCOR1 REST corepressor 1 gene DOID:0050777 Joubert syndrome ISO RGD:1313957 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:26489029 12192949 RCOR1 REST corepressor 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1313957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12192949 RCOR1 REST corepressor 1 gene DOID:630 genetic disease ISO RGD:1313957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12192949 RCOR1 REST corepressor 1 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1313957 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 12192949 RCOR1 REST corepressor 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1313957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25043185 12192964 ADSS1 adenylosuccinate synthase 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1351020 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12192964 ADSS1 adenylosuccinate synthase 1 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1351020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 12192964 ADSS1 adenylosuccinate synthase 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1351020 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:26506222|PMID:28492532|PMID:31680123 12192964 ADSS1 adenylosuccinate synthase 1 gene DOID:1115 sarcoma ISO RGD:1590342 D RGD:9068941 20200609 RGD protein:decreased activity:tumor (rat) PMID:2560335|REF_RGD_ID:5143928 12192964 ADSS1 adenylosuccinate synthase 1 gene DOID:630 genetic disease ISO RGD:1351020 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12192964 ADSS1 adenylosuccinate synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1590342 D RGD:9068941 20200609 RGD protein:increased activity:heart (rat) PMID:3360219|REF_RGD_ID:1598762 12192964 ADSS1 adenylosuccinate synthase 1 gene DOID:9006602 Distal Myopathy 5 ISO RGD:1351020 D RGD:7240710 20190315 OMIM 12192964 ADSS1 adenylosuccinate synthase 1 gene DOID:9006602 Distal Myopathy 5 ISO RGD:1351020 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, distal, 5 PMID:16199547|PMID:25741868|PMID:26506222|PMID:27868399|PMID:28268051|PMID:28492532|PMID:31680123|PMID:32331917 12193001 HMGA2 high mobility group AT-hook 2 gene DOID:127 leiomyoma ISO RGD:1348013 D RGD:9068941 20200609 RGD uterine leiomyoma, OMIM:150699; DNA:gene fusion:exon:RTVL-H 3-prime LTRs fused to exon 3 PMID:8954805|REF_RGD_ID:1601568 12193001 HMGA2 high mobility group AT-hook 2 gene DOID:13223 uterine fibroid ISO RGD:1348013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uterine leiomyoma 12193001 HMGA2 high mobility group AT-hook 2 gene DOID:14566 disease of cellular proliferation ISO RGD:1348013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18413806 12193001 HMGA2 high mobility group AT-hook 2 gene DOID:2394 ovarian cancer ISO RGD:1348013 D RGD:9068941 20200609 RGD PMID:18452175|REF_RGD_ID:5147841 12193001 HMGA2 high mobility group AT-hook 2 gene DOID:3315 lipoma ISO RGD:1348013 D RGD:9068941 20200609 RGD DNA:multiple chromosomal rearrangements PMID:7606786|REF_RGD_ID:1601567 12193001 HMGA2 high mobility group AT-hook 2 gene DOID:630 genetic disease ISO RGD:1348013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193001 HMGA2 high mobility group AT-hook 2 gene DOID:9003996 Birth Weight ISO RGD:1348013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23202124 12193001 HMGA2 high mobility group AT-hook 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1348013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28830677 12193001 HMGA2 high mobility group AT-hook 2 gene DOID:9007070 Silver-Russell Syndrome 1 ISO RGD:1348013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 1 PMID:28796236 12193001 HMGA2 high mobility group AT-hook 2 gene DOID:9007253 Hamartoma ISO RGD:1348013 D RGD:9068941 20200609 RGD pulmonary chondroid hamartoma; DNA:gene fusion:exon:RTVL-H 3-prime LTRs fused to exon 3 PMID:8954805|REF_RGD_ID:1601568 12193001 HMGA2 high mobility group AT-hook 2 gene DOID:9007453 Silver-Russell Syndrome 5 ISO RGD:1348013 D RGD:7240710 20200701 OMIM 12193001 HMGA2 high mobility group AT-hook 2 gene DOID:9007453 Silver-Russell Syndrome 5 ISO RGD:1348013 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 5 PMID:25741868|PMID:25809938|PMID:28492532|PMID:28796236|PMID:29453418 12193001 HMGA2 high mobility group AT-hook 2 gene DOID:9970 obesity ISO RGD:1552855 D RGD:9068941 20200609 RGD PMID:10742101|REF_RGD_ID:1601569 12193011 MYL7 myosin light chain 7 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9527842 12193011 MYL7 myosin light chain 7 gene DOID:14250 Down syndrome ISO RGD:1317935 D RGD:9068941 20200609 RGD PMID:12083776|REF_RGD_ID:1580934 12193011 MYL7 myosin light chain 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12193011 MYL7 myosin light chain 7 gene DOID:630 genetic disease ISO RGD:1317934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193025 ATP13A2 ATPase cation transporting 13A2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1342911 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12193025 ATP13A2 ATPase cation transporting 13A2 gene DOID:0060556 Kufor-Rakeb syndrome ISO RGD:1342911 D RGD:7240710 20180130 OMIM 12193025 ATP13A2 ATPase cation transporting 13A2 gene DOID:0060556 Kufor-Rakeb syndrome ISO RGD:1342911 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kufor-Rakeb syndrome PMID:12169656|PMID:16199547|PMID:16964263|PMID:17485642|PMID:17576681|PMID:18075584|PMID:18075585|PMID:18414213|PMID:19015489|PMID:19085912|PMID:19360675|PMID:19458722|PMID:19705361|PMID:20137506|PMID:20227461|PMID:20683840|PMID:20816920|PMID:20853184|PMID:20976737|PMID:21060012|PMID:21094623|PMID:21542062|PMID:21665991|PMID:21696388|PMID:21714071|PMID:21724849|PMID:22296644|PMID:22388936|PMID:22743658|PMID:22768177|PMID:22847264|PMID:22995991|PMID:23499937|PMID:23522931|PMID:24088041|PMID:24399444|PMID:25374329|PMID:25466404|PMID:25741868|PMID:26467025|PMID:26633545|PMID:27165006|PMID:27294386|PMID:28137957|PMID:28492532|PMID:28518168|PMID:29163333|PMID:29606608|PMID:29903538|PMID:29966207|PMID:30232368|PMID:30833663|PMID:30868101|PMID:31771779|PMID:31944623|PMID:31996848|PMID:32461654|PMID:32707456|PMID:495089|PMID:9536098 12193025 ATP13A2 ATPase cation transporting 13A2 gene DOID:0080855 Parkinsonism ISO RGD:1342911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23046578 12193025 ATP13A2 ATPase cation transporting 13A2 gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1342911 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:16199547|PMID:16964263|PMID:20683840|PMID:21060012|PMID:21665991|PMID:21696388|PMID:21724849|PMID:22296644|PMID:22768177|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29163333|PMID:29966207 12193025 ATP13A2 ATPase cation transporting 13A2 gene DOID:0110784 hereditary spastic paraplegia 33 ISO RGD:1342911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic tetraparesis PMID:25741868 12193025 ATP13A2 ATPase cation transporting 13A2 gene DOID:0112348 hereditary spastic paraplegia 78 ISO RGD:1342911 D RGD:7240710 20190315 OMIM 12193025 ATP13A2 ATPase cation transporting 13A2 gene DOID:0112348 hereditary spastic paraplegia 78 ISO RGD:1342911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 78 PMID:12169656|PMID:16964263|PMID:18075584|PMID:18075585|PMID:18414213|PMID:19085912|PMID:19458722|PMID:19705361|PMID:20683840|PMID:21060012|PMID:21665991|PMID:21696388|PMID:21724849|PMID:22296644|PMID:22442086|PMID:22768177|PMID:25741868|PMID:26467025|PMID:28137957|PMID:28492532|PMID:29966207|PMID:30833663 12193025 ATP13A2 ATPase cation transporting 13A2 gene DOID:13548 secondary Parkinson disease ISO RGD:1342911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22285144 12193025 ATP13A2 ATPase cation transporting 13A2 gene DOID:14330 Parkinson's disease ISO RGD:1342911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23628791|PMID:25149416 12193025 ATP13A2 ATPase cation transporting 13A2 gene DOID:14330 Parkinson's disease ISO RGD:1342911 D RGD:9068941 20200609 RGD PMID:26223426|REF_RGD_ID:10450518 12193025 ATP13A2 ATPase cation transporting 13A2 gene DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:12801476 20211103 OMIA Neuronal ceroid lipofuscinosis, 12 PMID:1609844|PMID:15771740|PMID:15691038|PMID:18004671|PMID:21362476|PMID:1471473|PMID:22022275|PMID:12061538|PMID:28860089|PMID:30956123|PMID:32219101|PMID:33769611 12193025 ATP13A2 ATPase cation transporting 13A2 gene DOID:630 genetic disease ISO RGD:1342911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12169656|PMID:16199547|PMID:16964263|PMID:17485642|PMID:17576681|PMID:18075584|PMID:18075585|PMID:18414213|PMID:19015489|PMID:19085912|PMID:19360675|PMID:19458722|PMID:19705361|PMID:20137506|PMID:20683840|PMID:20816920|PMID:21060012|PMID:21542062|PMID:21665991|PMID:21696388|PMID:21714071|PMID:21724849|PMID:22296644|PMID:22743658|PMID:22768177|PMID:22995991|PMID:23499937|PMID:24399444|PMID:25374329|PMID:25466404|PMID:25741868|PMID:26467025|PMID:27294386|PMID:28492532|PMID:28518168|PMID:29966207|PMID:30232368|PMID:30833663|PMID:31771779|PMID:32461654|PMID:9536098 12193025 ATP13A2 ATPase cation transporting 13A2 gene DOID:9000304 Manganese Poisoning ISO RGD:1342911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22285144 12193025 ATP13A2 ATPase cation transporting 13A2 gene DOID:9002955 Nerve Degeneration ISO RGD:1342911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22847264 12193057 NFXL1 nuclear transcription factor, X-box binding like 1 gene DOID:13580 cholestasis ISO RGD:1347533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12193057 NFXL1 nuclear transcription factor, X-box binding like 1 gene DOID:630 genetic disease ISO RGD:1347533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193057 NFXL1 nuclear transcription factor, X-box binding like 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12193092 HMGN4 high mobility group nucleosomal binding domain 4 gene DOID:630 genetic disease ISO RGD:1344098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193109 POGZ pogo transposable element derived with ZNF domain gene DOID:0060041 autism spectrum disorder ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545|PMID:28492532|PMID:30504930 12193109 POGZ pogo transposable element derived with ZNF domain gene DOID:0070067 White-Sutton syndrome ISO RGD:1320615 D RGD:7240710 20180130 OMIM 12193109 POGZ pogo transposable element derived with ZNF domain gene DOID:0070067 White-Sutton syndrome ISO RGD:1320615 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome PMID:22495311|PMID:22542183|PMID:23375656|PMID:24267886|PMID:24463507|PMID:24896178|PMID:25533962|PMID:25694107|PMID:25741868|PMID:26077850|PMID:26739615|PMID:26763879|PMID:26942287|PMID:27148570|PMID:28480548|PMID:28492532|PMID:28708303|PMID:31782611|PMID:31981491|PMID:33098347|PMID:33277917|PMID:34529370|PMID:9862965 12193109 POGZ pogo transposable element derived with ZNF domain gene DOID:0080422 Dravet syndrome ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 12193109 POGZ pogo transposable element derived with ZNF domain gene DOID:0080442 developmental and epileptic encephalopathy 41 ISO RGD:1320615 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 41 PMID:25741868 12193109 POGZ pogo transposable element derived with ZNF domain gene DOID:0111940 immunodeficiency 42 ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12193109 POGZ pogo transposable element derived with ZNF domain gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12193109 POGZ pogo transposable element derived with ZNF domain gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1320615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12193109 POGZ pogo transposable element derived with ZNF domain gene DOID:1059 intellectual disability ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:25741868|PMID:26077850|PMID:27148570|PMID:31782611 12193109 POGZ pogo transposable element derived with ZNF domain gene DOID:1540 parathyroid carcinoma ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12193109 POGZ pogo transposable element derived with ZNF domain gene DOID:5812 MHC class II deficiency ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12193109 POGZ pogo transposable element derived with ZNF domain gene DOID:630 genetic disease ISO RGD:1320615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20562864|PMID:21518873|PMID:22495311|PMID:22542183|PMID:23375656|PMID:24267886|PMID:24463507|PMID:24896178|PMID:25533962|PMID:25694107|PMID:25741868|PMID:26077850|PMID:26739615|PMID:26942287|PMID:27148570|PMID:28480548|PMID:28492532|PMID:31782611|PMID:31981491|PMID:33277917|PMID:9862965 12193109 POGZ pogo transposable element derived with ZNF domain gene DOID:9003133 Hypertelorism ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 12193109 POGZ pogo transposable element derived with ZNF domain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320615 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26942287|PMID:28492532|PMID:31782611|PMID:31981491 12193109 POGZ pogo transposable element derived with ZNF domain gene DOID:9007661 Dwarfism ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12193109 POGZ pogo transposable element derived with ZNF domain gene DOID:9008086 Developmental Disabilities ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:26077850|PMID:27148570|PMID:31782611 12193109 POGZ pogo transposable element derived with ZNF domain gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12193109 POGZ pogo transposable element derived with ZNF domain gene DOID:9970 obesity ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:0060180 colitis ISO RGD:1351636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23810507 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:631365 D RGD:9068941 20220915 RGD PMID:27982256|REF_RGD_ID:153352323 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:0080600 COVID-19 ISO RGD:1351636 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:0080600 COVID-19 ISO RGD:1351636 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:1074 kidney failure treatment ISO RGD:631365 D RGD:9068941 20200609 RGD PMID:25594614|REF_RGD_ID:13781896 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:224 transient cerebral ischemia treatment ISO RGD:1351636 D RGD:9068941 20200609 RGD PMID:25603815|REF_RGD_ID:13781895 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:224 transient cerebral ischemia treatment ISO RGD:631365 D RGD:9068941 20200609 RGD PMID:28528966|REF_RGD_ID:13781879 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:3042 allergic contact dermatitis ISO RGD:1351636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:3393 coronary artery disease ISO RGD:1351636 D RGD:9068941 20200609 RGD PMID:17283255|REF_RGD_ID:1642340 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:3407 carotid artery disease ISO RGD:1351636 D RGD:9068941 20200609 RGD mRNA:increased expression:carotid artery PMID:17283255|REF_RGD_ID:1642340 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:631365 D RGD:9068941 20200609 RGD PMID:28495827|REF_RGD_ID:13781880 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1351636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28501332 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:630 genetic disease ISO RGD:1351636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:6432 pulmonary hypertension ISO RGD:1332214 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:28202489|REF_RGD_ID:13781882 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:6432 pulmonary hypertension ISO RGD:1351636 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung,pulmonary arterial endothelial cell: PMID:28202489|REF_RGD_ID:13781882 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:6432 pulmonary hypertension ISO RGD:631365 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:28202489|REF_RGD_ID:13781882 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:6432 pulmonary hypertension susceptibility ISO RGD:1332214 D RGD:9068941 20200609 RGD PMID:28202489|REF_RGD_ID:13781882 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:824 periodontitis ISO RGD:631365 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus;mRNA:increased expression:adipose tissue: PMID:26456152|REF_RGD_ID:13781894 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:631365 D RGD:9068941 20200609 RGD protein:decreased expression:fat cell PMID:18410550|REF_RGD_ID:2311099 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:9006646 Metabolic Syndrome ISO RGD:1351636 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17556870|REF_RGD_ID:1642337 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:9006646 Metabolic Syndrome ISO RGD:631365 D RGD:9068941 20200609 RGD DNA:repeats:intron PMID:15922301|REF_RGD_ID:1642345 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:9007364 Mouth Neoplasms ISO RGD:1351636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28501332 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:9007692 Insulin Resistance ISO RGD:1351636 D RGD:9068941 20200609 RGD associated with Polycystic Ovary Syndrome;protein:increased expression:serum PMID:17582143|REF_RGD_ID:1642341 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:9007980 Sleep Deprivation ISO RGD:631365 D RGD:9068941 20200609 RGD RNA:increased expression:liver: PMID:28860003|REF_RGD_ID:13781877 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:9008091 Optic Nerve Injuries treatment ISO RGD:631365 D RGD:9068941 20200609 RGD PMID:28032230|REF_RGD_ID:13781885 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351636 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:23922874|PMID:32005247 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351636 D RGD:9068941 20200609 RGD protein:decreased expression:adipose tissue PMID:16234302|REF_RGD_ID:2311119 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351636 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18410550|REF_RGD_ID:2311099 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:9970 obesity ISO RGD:1351636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23834033 12193138 NAMPT nicotinamide phosphoribosyltransferase gene DOID:9970 obesity ISO RGD:1351636 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17618961|REF_RGD_ID:1642336 12193223 AHCYL2 adenosylhomocysteinase like 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12193223 AHCYL2 adenosylhomocysteinase like 2 gene DOID:630 genetic disease ISO RGD:1601771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193223 AHCYL2 adenosylhomocysteinase like 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1601771 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 12193255 HINT3 histidine triad nucleotide binding protein 3 gene DOID:630 genetic disease ISO RGD:1347010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193264 UBQLN3 ubiquilin 3 gene DOID:630 genetic disease ISO RGD:1312638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193270 RAMP2 receptor activity modifying protein 2 gene DOID:10763 hypertension ISO RGD:61872 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart myocardium, aorta PMID:16450076|REF_RGD_ID:1625300 12193270 RAMP2 receptor activity modifying protein 2 gene DOID:10763 hypertension ISO RGD:735315 D RGD:9068941 20200609 RGD associated with Pregnancy Complications PMID:11600589|REF_RGD_ID:1642682 12193270 RAMP2 receptor activity modifying protein 2 gene DOID:10763 hypertension susceptibility ISO RGD:735315 D RGD:9068941 20200609 RGD DNA:SNP:intron PMID:15797661|REF_RGD_ID:1642679 12193270 RAMP2 receptor activity modifying protein 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:61872 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:17068622|REF_RGD_ID:1642683 12193270 RAMP2 receptor activity modifying protein 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12193270 RAMP2 receptor activity modifying protein 2 gene DOID:299 adenocarcinoma ISO RGD:735315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17671114 12193270 RAMP2 receptor activity modifying protein 2 gene DOID:557 kidney disease ISO RGD:61872 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:10733909|REF_RGD_ID:61729 12193270 RAMP2 receptor activity modifying protein 2 gene DOID:6000 congestive heart failure ISO RGD:61872 D RGD:9068941 20200609 RGD associated with Hypertension PMID:12623952|REF_RGD_ID:704370 12193270 RAMP2 receptor activity modifying protein 2 gene DOID:630 genetic disease ISO RGD:735315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193270 RAMP2 receptor activity modifying protein 2 gene DOID:6432 pulmonary hypertension ISO RGD:61872 D RGD:9068941 20200609 RGD mRNA:increased expression:heart right ventricle PMID:17437045|REF_RGD_ID:1642678 12193270 RAMP2 receptor activity modifying protein 2 gene DOID:672 spleen cancer ameliorates ISO RGD:62164 D RGD:9068941 20220609 RGD PMID:31754214|REF_RGD_ID:152985691 12193270 RAMP2 receptor activity modifying protein 2 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:735315 D RGD:9068941 20220421 RGD associated with colorectal cancer; protein:increased expression:lymph node (human) PMID:23634287|REF_RGD_ID:151708733 12193270 RAMP2 receptor activity modifying protein 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:62164 D RGD:9068941 20220609 RGD PMID:31754214|REF_RGD_ID:152985691 12193270 RAMP2 receptor activity modifying protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:61872 D RGD:9068941 20200609 RGD PMID:16713642|REF_RGD_ID:1625319 12193270 RAMP2 receptor activity modifying protein 2 gene DOID:9003936 Cardiomegaly ISO RGD:61872 D RGD:9068941 20200609 RGD PMID:15680493|REF_RGD_ID:1642686 12193270 RAMP2 receptor activity modifying protein 2 gene DOID:9004657 Weight Gain ISO RGD:735315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12193270 RAMP2 receptor activity modifying protein 2 gene DOID:9005172 Lung Neoplasms ISO RGD:735315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17671114 12193270 RAMP2 receptor activity modifying protein 2 gene DOID:9005587 Starvation ISO RGD:61872 D RGD:9068941 20200609 RGD PMID:17335899|REF_RGD_ID:1625307 12193270 RAMP2 receptor activity modifying protein 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61872 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:14717924|REF_RGD_ID:1642701 12193270 RAMP2 receptor activity modifying protein 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:61872 D RGD:9068941 20200609 RGD mRNA:increased expression:ventricle myocardium PMID:16987513|REF_RGD_ID:1642684 12193270 RAMP2 receptor activity modifying protein 2 gene DOID:9256 colorectal cancer ISO RGD:735315 D RGD:9068941 20220609 RGD mRNA:increased expression:colorectum (human) PMID:21839130|REF_RGD_ID:152985531 12193278 MBD6 methyl-CpG binding domain protein 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1322301 D RGD:9068941 20200609 RGD DNA:missense mutations:cds: PMID:23055267|REF_RGD_ID:9590163 12193278 MBD6 methyl-CpG binding domain protein 6 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1322301 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U PMID:28492532 12193278 MBD6 methyl-CpG binding domain protein 6 gene DOID:607 paraplegia ISO RGD:1322301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12193278 MBD6 methyl-CpG binding domain protein 6 gene DOID:630 genetic disease ISO RGD:1322301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193278 MBD6 methyl-CpG binding domain protein 6 gene DOID:6846 familial melanoma ISO RGD:1322301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 12193278 MBD6 methyl-CpG binding domain protein 6 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1322301 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:28492532 12193300 SYN3 synapsin III gene DOID:0060041 autism spectrum disorder ISO RGD:736492 D RGD:9068941 20220825 MouseDO 12193300 SYN3 synapsin III gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:736491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 12193300 SYN3 synapsin III gene DOID:0090114 Sorsby's fundus dystrophy ISO RGD:736491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sorsby fundus dystrophy PMID:10854443|PMID:25741868|PMID:27601084|PMID:28492532|PMID:31415707|PMID:7148944|PMID:7894485|PMID:8634721|PMID:8639088|PMID:8919688|PMID:8981947 12193300 SYN3 synapsin III gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:736491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 12193300 SYN3 synapsin III gene DOID:630 genetic disease ISO RGD:736491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12193300 SYN3 synapsin III gene DOID:8501 fundus dystrophy ISO RGD:736491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:23023527|PMID:26493035|PMID:27601084|PMID:28492532|PMID:28559085 12193300 SYN3 synapsin III gene DOID:9003601 Pseudoinflammatory Fundus Dystrophy, Finnish Type ISO RGD:736491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fundus dystrophy, pseudoinflammatory, recessive form PMID:25741868|PMID:28492532 12193326 PARP12 poly(ADP-ribose) polymerase family member 12 gene DOID:0080690 RASopathy ISO RGD:1318511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12193326 PARP12 poly(ADP-ribose) polymerase family member 12 gene DOID:4448 macular degeneration ISO RGD:1318511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30742112 12193326 PARP12 poly(ADP-ribose) polymerase family member 12 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12193326 PARP12 poly(ADP-ribose) polymerase family member 12 gene DOID:630 genetic disease ISO RGD:1318511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193326 PARP12 poly(ADP-ribose) polymerase family member 12 gene DOID:9001488 Human Influenza ISO RGD:1318511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12193342 DDI2 DNA damage inducible 1 homolog 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603951 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12193342 DDI2 DNA damage inducible 1 homolog 2 gene DOID:630 genetic disease ISO RGD:1603951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193342 DDI2 DNA damage inducible 1 homolog 2 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1603951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 12193363 SNN stannin gene DOID:5419 schizophrenia ISO RGD:736222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12193363 SNN stannin gene DOID:630 genetic disease ISO RGD:736222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193387 SPRN shadow of prion protein gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1602790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12193387 SPRN shadow of prion protein gene DOID:630 genetic disease ISO RGD:1602790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193392 PAK6 p21 (RAC1) activated kinase 6 gene DOID:0080141 mosaic variegated aneuploidy syndrome 1 ISO RGD:1314703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 PMID:28492532 12193392 PAK6 p21 (RAC1) activated kinase 6 gene DOID:10126 keratoconus ISO RGD:1314703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 12193392 PAK6 p21 (RAC1) activated kinase 6 gene DOID:2717 Bloom syndrome ISO RGD:1314703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12193392 PAK6 p21 (RAC1) activated kinase 6 gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:1314703 D RGD:9068941 20200609 RGD PMID:24715215|REF_RGD_ID:13506722 12193392 PAK6 p21 (RAC1) activated kinase 6 gene DOID:630 genetic disease ISO RGD:1314703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193392 PAK6 p21 (RAC1) activated kinase 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18642328 12193392 PAK6 p21 (RAC1) activated kinase 6 gene DOID:9256 colorectal cancer ISO RGD:1314703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12193412 CCDC9B coiled-coil domain containing 9B gene DOID:2717 Bloom syndrome ISO RGD:1602266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12193412 CCDC9B coiled-coil domain containing 9B gene DOID:9256 colorectal cancer ISO RGD:1602266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12193455 CD4 CD4 molecule gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:735603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12193455 CD4 CD4 molecule gene DOID:0080600 COVID-19 severity ISO RGD:735603 D RGD:9068941 20200609 RGD protein:decreased expression:blood, T cell (human) PMID:32364527|REF_RGD_ID:27226699 12193455 CD4 CD4 molecule gene DOID:0080600 COVID-19 severity ISO RGD:735603 D RGD:9068941 20200618 RGD protein:decreased expression:serum, lung, T cell (human) PMID:32427582|REF_RGD_ID:30309200 12193455 CD4 CD4 molecule gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:735603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12193455 CD4 CD4 molecule gene DOID:0111621 Temtamy syndrome ISO RGD:735603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12193455 CD4 CD4 molecule gene DOID:0112277 immunodeficiency 79 ISO RGD:735603 D RGD:7240710 20210505 OMIM 12193455 CD4 CD4 molecule gene DOID:0112277 immunodeficiency 79 ISO RGD:735603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 79 PMID:25741868|PMID:31781092|PMID:33471124 12193455 CD4 CD4 molecule gene DOID:10303 sialadenitis treatment ISO RGD:2306 D RGD:9068941 20200609 RGD PMID:1828009|REF_RGD_ID:10059317 12193455 CD4 CD4 molecule gene DOID:11723 Duchenne muscular dystrophy ISO RGD:735603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641384 12193455 CD4 CD4 molecule gene DOID:12361 Graves' disease ISO RGD:735603 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 12193455 CD4 CD4 molecule gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:735603 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 12193455 CD4 CD4 molecule gene DOID:2988 antiphospholipid syndrome treatment ISO RGD:10309 D RGD:9068941 20200609 RGD PMID:7914411|REF_RGD_ID:10058961 12193455 CD4 CD4 molecule gene DOID:630 genetic disease ISO RGD:735603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193455 CD4 CD4 molecule gene DOID:7188 autoimmune thyroiditis treatment ISO RGD:10309 D RGD:9068941 20200609 RGD PMID:1680568|REF_RGD_ID:10058966 12193455 CD4 CD4 molecule gene DOID:813 septic arthritis treatment ISO RGD:2306 D RGD:9068941 20200609 RGD PMID:1730259|REF_RGD_ID:10058962 12193455 CD4 CD4 molecule gene DOID:9000571 AIDS-Related Opportunistic Infections ISO RGD:735603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9546790 12193455 CD4 CD4 molecule gene DOID:9002457 Experimental Arthritis treatment ISO RGD:10309 D RGD:9068941 20200609 RGD PMID:15479897|REF_RGD_ID:10058957 12193455 CD4 CD4 molecule gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2306 D RGD:9068941 20200609 RGD PMID:12010568|REF_RGD_ID:10058960 12193455 CD4 CD4 molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2306 D RGD:9068941 20200609 RGD protein:decreased expression:T lymphocyte: PMID:9138014|REF_RGD_ID:10058963 12193455 CD4 CD4 molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:2306 D RGD:9068941 20200609 RGD PMID:3097071|REF_RGD_ID:10058968 12193455 CD4 CD4 molecule gene DOID:9002955 Nerve Degeneration ISO RGD:735603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9546790 12193455 CD4 CD4 molecule gene DOID:9003223 Corneal Graft Rejection treatment ISO RGD:2306 D RGD:9068941 20200609 RGD PMID:1358194|REF_RGD_ID:10059315 12193455 CD4 CD4 molecule gene DOID:9003796 T-Cell OKT4 Deficiency ISO RGD:735603 D RGD:7240710 20180405 OMIM 12193455 CD4 CD4 molecule gene DOID:9003796 T-Cell OKT4 Deficiency ISO RGD:735603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Okt4 epitope deficiency PMID:1708753|PMID:1961196|PMID:25741868|PMID:33116287|PMID:7689618 12193455 CD4 CD4 molecule gene DOID:9004283 Transplant Rejection treatment ISO RGD:10309 D RGD:9068941 20200609 RGD PMID:11081762|REF_RGD_ID:10058974 12193455 CD4 CD4 molecule gene DOID:9004283 Transplant Rejection treatment ISO RGD:2306 D RGD:9068941 20200609 RGD PMID:1704648|REF_RGD_ID:10058956 12193455 CD4 CD4 molecule gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:735603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12193455 CD4 CD4 molecule gene DOID:9074 systemic lupus erythematosus treatment ISO RGD:10309 D RGD:9068941 20200609 RGD PMID:7914411|REF_RGD_ID:10058961 12193478 CELF1 CUGBP Elav-like family member 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1317078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12193478 CELF1 CUGBP Elav-like family member 1 gene DOID:1059 intellectual disability ISO RGD:1317078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12193478 CELF1 CUGBP Elav-like family member 1 gene DOID:630 genetic disease ISO RGD:1317078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193519 CALML4 calmodulin like 4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12193519 CALML4 calmodulin like 4 gene DOID:2717 Bloom syndrome ISO RGD:1344788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12193519 CALML4 calmodulin like 4 gene DOID:630 genetic disease ISO RGD:1344788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193519 CALML4 calmodulin like 4 gene DOID:9256 colorectal cancer ISO RGD:1344788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12193527 FAT2 FAT atypical cadherin 2 gene DOID:0050952 spastic ataxia ISO RGD:732170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 12193527 FAT2 FAT atypical cadherin 2 gene DOID:0080287 spinocerebellar ataxia 45 ISO RGD:732170 D RGD:7240710 20190315 OMIM 12193527 FAT2 FAT atypical cadherin 2 gene DOID:0080287 spinocerebellar ataxia 45 ISO RGD:732170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 45 PMID:20301317|PMID:25741868|PMID:28492532|PMID:29053796|PMID:29847346 12193527 FAT2 FAT atypical cadherin 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732170 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12193527 FAT2 FAT atypical cadherin 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 12193527 FAT2 FAT atypical cadherin 2 gene DOID:630 genetic disease ISO RGD:732170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12193527 FAT2 FAT atypical cadherin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732170 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12193555 LSM12 LSM12 homolog gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1606981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 12193555 LSM12 LSM12 homolog gene DOID:630 genetic disease ISO RGD:1606981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193574 CASP8AP2 caspase 8 associated protein 2 gene DOID:630 genetic disease ISO RGD:1314005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193599 DCTN1 dynactin subunit 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1603060 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868|PMID:28492532 12193599 DCTN1 dynactin subunit 1 gene DOID:0050890 synucleinopathy ISO RGD:62038 D RGD:9068941 20200609 RGD PMID:19295143|REF_RGD_ID:11049591 12193599 DCTN1 dynactin subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603060 D RGD:7240710 20180130 OMIM 12193599 DCTN1 dynactin subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603060 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18094236|PMID:18364389|PMID:18812314|PMID:18852346|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:24484619|PMID:24627108|PMID:24881494|PMID:25025039|PMID:25299611|PMID:25382069|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28709720|PMID:28717666|PMID:28792508|PMID:29089398|PMID:29339765|PMID:29525180|PMID:29738522|PMID:31996268|PMID:32023010|PMID:32028661|PMID:32402491|PMID:33369814|PMID:9536098 12193599 DCTN1 dynactin subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603060 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18812314|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:24627108|PMID:25025039|PMID:25382069|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:27132499|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:29525180|PMID:29738522|PMID:30373780|PMID:32023010|PMID:32028661|PMID:32402491|PMID:33369814|PMID:9536098 12193599 DCTN1 dynactin subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603060 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18812314|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:24627108|PMID:25025039|PMID:25382069|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:27132499|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28717666|PMID:29525180|PMID:29738522|PMID:30373780|PMID:32023010|PMID:32028661|PMID:32402491|PMID:33369814|PMID:9536098 12193599 DCTN1 dynactin subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603060 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18812314|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:24627108|PMID:25025039|PMID:25382069|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:27132499|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28717666|PMID:29738522|PMID:30373780|PMID:32023010|PMID:32028661|PMID:32402491|PMID:33369814|PMID:9536098 12193599 DCTN1 dynactin subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603060 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18094236|PMID:18364389|PMID:18812314|PMID:18852346|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:24484619|PMID:24627108|PMID:24881494|PMID:25025039|PMID:25109764|PMID:25299611|PMID:25382069|PMID:25558820|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28518168|PMID:28709720|PMID:28717666|PMID:28792508|PMID:29339765|PMID:29525180|PMID:29738522|PMID:30373780|PMID:31996268|PMID:32023010|PMID:32028661|PMID:32325477|PMID:32397312|PMID:32402491|PMID:32461654|PMID:32712562|PMID:33369814|PMID:33601107|PMID:33973882|PMID:9536098 12193599 DCTN1 dynactin subunit 1 gene DOID:0060486 Perry syndrome ISO RGD:1603060 D RGD:7240710 20180130 OMIM 12193599 DCTN1 dynactin subunit 1 gene DOID:0060486 Perry syndrome ISO RGD:1603060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinsonism with alveolar hypoventilation and mental depression | ClinVar Annotator: match by term: Perry syndrome PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16505168|PMID:17824900|PMID:18094236|PMID:18364389|PMID:18812314|PMID:18852346|PMID:19136952|PMID:19279216|PMID:19506225|PMID:20437543|PMID:20945553|PMID:22777741|PMID:23143281|PMID:23628468|PMID:24343258|PMID:24484619|PMID:24627108|PMID:25025039|PMID:25299611|PMID:25382069|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28166811|PMID:28430856|PMID:28492532|PMID:28518168|PMID:28792508|PMID:29525180|PMID:32028661|PMID:32402491|PMID:32461654|PMID:33369814|PMID:33973882 12193599 DCTN1 dynactin subunit 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1603060 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12193599 DCTN1 dynactin subunit 1 gene DOID:0080855 Parkinsonism ISO RGD:1603060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:25741868|PMID:28492532|PMID:28518168|PMID:29525180|PMID:32461654 12193599 DCTN1 dynactin subunit 1 gene DOID:0111200 distal hereditary motor neuronopathy type 1 ISO RGD:1603060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor PMID:28492532 12193599 DCTN1 dynactin subunit 1 gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1603060 D RGD:7240710 20180130 OMIM 12193599 DCTN1 dynactin subunit 1 gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1603060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7B PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18094236|PMID:18364389|PMID:18812314|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:24627108|PMID:25025039|PMID:25299611|PMID:25382069|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28166811|PMID:28430856|PMID:28492532|PMID:28518168|PMID:28792508|PMID:29525180|PMID:32028661|PMID:32402491|PMID:32461654|PMID:33369814|PMID:33973882|PMID:9536098 12193599 DCTN1 dynactin subunit 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1603060 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:15326253|PMID:18812314|PMID:19506225|PMID:23143281|PMID:24604904|PMID:24627108|PMID:25025039|PMID:25741868|PMID:28492532 12193599 DCTN1 dynactin subunit 1 gene DOID:1289 neurodegenerative disease ISO RGD:62330 D RGD:9068941 20200609 RGD PMID:18364389|REF_RGD_ID:5539209 12193599 DCTN1 dynactin subunit 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1603060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to PMID:15326253|PMID:16240349|PMID:17824900|PMID:18812314|PMID:19506225|PMID:22777741|PMID:23143281|PMID:25025039|PMID:25382069|PMID:25741868|PMID:26429889|PMID:26467025|PMID:26662454|PMID:27132499|PMID:28130640|PMID:28430856|PMID:28492532|PMID:28717666 12193599 DCTN1 dynactin subunit 1 gene DOID:3324 mood disorder ISO RGD:1603060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19136952 12193599 DCTN1 dynactin subunit 1 gene DOID:543 dystonia ISO RGD:1603060 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:25741868|PMID:28492532|PMID:30682498 12193599 DCTN1 dynactin subunit 1 gene DOID:574 peripheral nervous system disease ISO RGD:1603060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 12193599 DCTN1 dynactin subunit 1 gene DOID:630 genetic disease ISO RGD:1603060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15326253|PMID:16199547|PMID:16240349|PMID:17576681|PMID:18812314|PMID:19506225|PMID:23143281|PMID:24627108|PMID:25025039|PMID:25299611|PMID:25382069|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662454|PMID:27132499|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28518168|PMID:28709720|PMID:28717666|PMID:29525180|PMID:30270202|PMID:32023010|PMID:32028661|PMID:32397312|PMID:32461654|PMID:33369814|PMID:9536098 12193599 DCTN1 dynactin subunit 1 gene DOID:870 neuropathy ISO RGD:1603060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 12193599 DCTN1 dynactin subunit 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1603060 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12193599 DCTN1 dynactin subunit 1 gene DOID:9003671 Hypoventilation ISO RGD:1603060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19136952 12193599 DCTN1 dynactin subunit 1 gene DOID:9255 frontotemporal dementia ISO RGD:1603060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:28492532 12193655 FASN fatty acid synthase gene DOID:0060041 autism spectrum disorder ISO RGD:1347691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:28492532|PMID:30504930 12193655 FASN fatty acid synthase gene DOID:1059 intellectual disability ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12193655 FASN fatty acid synthase gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 12193655 FASN fatty acid synthase gene DOID:12930 dilated cardiomyopathy ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 12193655 FASN fatty acid synthase gene DOID:14566 disease of cellular proliferation ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20373869 12193655 FASN fatty acid synthase gene DOID:1826 epilepsy ISO RGD:1347691 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12193655 FASN fatty acid synthase gene DOID:1909 melanoma ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18770866|PMID:20805790|PMID:21213365 12193655 FASN fatty acid synthase gene DOID:3382 liposarcoma ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20372807 12193655 FASN fatty acid synthase gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29379198 12193655 FASN fatty acid synthase gene DOID:3910 lung adenocarcinoma ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12193655 FASN fatty acid synthase gene DOID:6000 congestive heart failure ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 12193655 FASN fatty acid synthase gene DOID:630 genetic disease ISO RGD:1347691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12193655 FASN fatty acid synthase gene DOID:684 hepatocellular carcinoma ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563831|PMID:15543204|PMID:21147110 12193655 FASN fatty acid synthase gene DOID:783 end stage renal disease ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 12193655 FASN fatty acid synthase gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23305094 12193655 FASN fatty acid synthase gene DOID:9001793 Generalized Epilepsy ISO RGD:1347691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:17576681|PMID:21937992|PMID:25741868|PMID:28166811|PMID:28492532|PMID:28714951|PMID:30504930|PMID:9536098 12193655 FASN fatty acid synthase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21442130 12193655 FASN fatty acid synthase gene DOID:9006205 Animal Disease Models ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12193655 FASN fatty acid synthase gene DOID:9006646 Metabolic Syndrome ISO RGD:1615200 D RGD:9068941 20230427 RGD mRNA:increased expression:liver (mouse) PMID:29684438|REF_RGD_ID:329333017 12193655 FASN fatty acid synthase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12193655 FASN fatty acid synthase gene DOID:9008939 Breast Neoplasms ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17089011|PMID:18281512 12193655 FASN fatty acid synthase gene DOID:9009121 lung metastasis ISO RGD:1347691 D RGD:9068941 20210423 RGD associated with head and neck squamous cell carcinoma PMID:20604875|REF_RGD_ID:126790467 12193655 FASN fatty acid synthase gene DOID:9256 colorectal cancer ISO RGD:1347691 D RGD:9068941 20220908 RGD mRNA,protein:increased expression:colorectum: PMID:32525817|REF_RGD_ID:153350127 12193655 FASN fatty acid synthase gene DOID:9970 obesity ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12193699 TMEM80 transmembrane protein 80 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12193699 TMEM80 transmembrane protein 80 gene DOID:0050729 neutral lipid storage disease ISO RGD:1603868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 12193699 TMEM80 transmembrane protein 80 gene DOID:0080773 delta beta-thalassemia ISO RGD:1603868 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12193699 TMEM80 transmembrane protein 80 gene DOID:0111969 immunodeficiency 39 ISO RGD:1603868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12193699 TMEM80 transmembrane protein 80 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12193699 TMEM80 transmembrane protein 80 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12193699 TMEM80 transmembrane protein 80 gene DOID:630 genetic disease ISO RGD:1603868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193699 TMEM80 transmembrane protein 80 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1603868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12193710 VAV1 vav guanine nucleotide exchange factor 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:737234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 12193710 VAV1 vav guanine nucleotide exchange factor 1 gene DOID:0050902 medulloblastoma ISO RGD:737234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 12193710 VAV1 vav guanine nucleotide exchange factor 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:737234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12193710 VAV1 vav guanine nucleotide exchange factor 1 gene DOID:289 endometriosis ISO RGD:3951 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:17845203|REF_RGD_ID:2303708 12193710 VAV1 vav guanine nucleotide exchange factor 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 12193710 VAV1 vav guanine nucleotide exchange factor 1 gene DOID:614 lymphopenia ISO RGD:3951 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:thymus PMID:10433093|REF_RGD_ID:2306005 12193710 VAV1 vav guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:737234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12193710 VAV1 vav guanine nucleotide exchange factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:3951 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:2064726|REF_RGD_ID:2306008 12193710 VAV1 vav guanine nucleotide exchange factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12193710 VAV1 vav guanine nucleotide exchange factor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:3951 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:thymus PMID:10433093|REF_RGD_ID:2306005 12193743 OR2AG2 olfactory receptor family 2 subfamily AG member 2 gene DOID:630 genetic disease ISO RGD:1351300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193746 TNNC2 troponin C2, fast skeletal type gene DOID:2234 focal epilepsy ISO RGD:1323707 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12193746 TNNC2 troponin C2, fast skeletal type gene DOID:630 genetic disease ISO RGD:1323707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193746 TNNC2 troponin C2, fast skeletal type gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1323707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12193746 TNNC2 troponin C2, fast skeletal type gene DOID:9006710 Congenital Myopathy 15 ISO RGD:1323707 D RGD:7240710 20230301 OMIM 12193746 TNNC2 troponin C2, fast skeletal type gene DOID:9006710 Congenital Myopathy 15 ISO RGD:1323707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with neonatal respiratory insufficiency PMID:33755597 12193756 AEBP2 AE binding protein 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1316304 D RGD:9068941 20220825 MouseDO OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 12193756 AEBP2 AE binding protein 2 gene DOID:630 genetic disease ISO RGD:1316303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193756 AEBP2 AE binding protein 2 gene DOID:9258 Waardenburg's syndrome ISO RGD:1316304 D RGD:9068941 20220825 MouseDO 12193770 LRRC52 leucine rich repeat containing 52 gene DOID:1540 parathyroid carcinoma ISO RGD:1603449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12193770 LRRC52 leucine rich repeat containing 52 gene DOID:630 genetic disease ISO RGD:1603449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193770 LRRC52 leucine rich repeat containing 52 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12193780 TLNRD1 talin rod domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1323243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12193780 TLNRD1 talin rod domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:1323243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12193780 TLNRD1 talin rod domain containing 1 gene DOID:630 genetic disease ISO RGD:1323243 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193780 TLNRD1 talin rod domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1323243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12193785 SIAE sialic acid acetylesterase gene DOID:0110877 holoprosencephaly 11 ISO RGD:1604014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12193785 SIAE sialic acid acetylesterase gene DOID:0111723 Jacobsen Syndrome ISO RGD:1604014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12193785 SIAE sialic acid acetylesterase gene DOID:417 autoimmune disease ISO RGD:1604014 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autoimmune disease, susceptibility to, 6 PMID:20555325|PMID:22257840|PMID:23011869|PMID:23308225|PMID:28492532|PMID:28900629 12193785 SIAE sialic acid acetylesterase gene DOID:417 autoimmune disease susceptibility ISO RGD:1604014 D RGD:7240710 20190502 OMIM 12193785 SIAE sialic acid acetylesterase gene DOID:5419 schizophrenia ISO RGD:1604014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12193785 SIAE sialic acid acetylesterase gene DOID:630 genetic disease ISO RGD:1604014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12193785 SIAE sialic acid acetylesterase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12193785 SIAE sialic acid acetylesterase gene DOID:9007661 Dwarfism ISO RGD:1604014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12193806 HMBS hydroxymethylbilane synthase gene DOID:0060017 CD3epsilon deficiency ISO RGD:733095 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12193806 HMBS hydroxymethylbilane synthase gene DOID:0060837 isolated microphthalmia 5 ISO RGD:733095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12193806 HMBS hydroxymethylbilane synthase gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:18414213|PMID:25741868|PMID:28492532 12193806 HMBS hydroxymethylbilane synthase gene DOID:0080690 RASopathy ISO RGD:733095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12193806 HMBS hydroxymethylbilane synthase gene DOID:0081330 glycogen storage disease Ib ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12193806 HMBS hydroxymethylbilane synthase gene DOID:0110651 long QT syndrome 10 ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12193806 HMBS hydroxymethylbilane synthase gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:18414213|PMID:25741868|PMID:28492532 12193806 HMBS hydroxymethylbilane synthase gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:733095 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12193806 HMBS hydroxymethylbilane synthase gene DOID:0111971 immunodeficiency 18 ISO RGD:733095 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12193806 HMBS hydroxymethylbilane synthase gene DOID:0111972 immunodeficiency 19 ISO RGD:733095 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12193806 HMBS hydroxymethylbilane synthase gene DOID:0111973 immunodeficiency 17 ISO RGD:733095 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12193806 HMBS hydroxymethylbilane synthase gene DOID:10286 prostate carcinoma ISO RGD:733095 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:in matched malignant and non-malignant sample pairs (p = 0.009) PMID:16211407|REF_RGD_ID:2301682 12193806 HMBS hydroxymethylbilane synthase gene DOID:10923 sickle cell anemia ISO RGD:733095 D RGD:9068941 20200609 RGD protein:increased activity:erythrocyte PMID:900140|REF_RGD_ID:12904674 12193806 HMBS hydroxymethylbilane synthase gene DOID:11054 urinary bladder cancer ISO RGD:733095 D RGD:9068941 20200609 RGD urinary bladder transitional cell carcinoma; mRNA:decreased expression:tumor:in matched malignant and non-malignant sample pairs (p = 0.008) PMID:16600798|REF_RGD_ID:2301681 12193806 HMBS hydroxymethylbilane synthase gene DOID:13603 obstructive jaundice ISO RGD:2801 D RGD:9068941 20200609 RGD Protein:increased activity:liver (rat) PMID:3963818|REF_RGD_ID:4144803 12193806 HMBS hydroxymethylbilane synthase gene DOID:2030 anxiety disorder ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anxiety PMID:25741868 12193806 HMBS hydroxymethylbilane synthase gene DOID:2741 bilirubin metabolic disorder ISO RGD:2801 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:3963818|REF_RGD_ID:4144803 12193806 HMBS hydroxymethylbilane synthase gene DOID:3133 acute porphyria ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute Porphyria PMID:18414213|PMID:25741868|PMID:28492532 12193806 HMBS hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria ISO RGD:733095 D RGD:7240710 20180130 OMIM 12193806 HMBS hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria ISO RGD:733095 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Abnormality of the heme biosynthetic pathway | ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Porphyria, Swedish type PMID:10408772|PMID:10453740|PMID:10494093|PMID:10502788|PMID:10782018|PMID:10944860|PMID:11055586|PMID:11399210|PMID:11831862|PMID:11857754|PMID:12357456|PMID:12372055|PMID:12566739|PMID:12773194|PMID:1301948|PMID:1427766|PMID:1496994|PMID:14970743|PMID:15003823|PMID:15469427|PMID:15534187|PMID:15643298|PMID:1577472|PMID:16025832|PMID:16199547|PMID:16211556|PMID:16817012|PMID:1714233|PMID:17298217|PMID:17576681|PMID:18414213|PMID:18627369|PMID:19138865|PMID:19267997|PMID:19292878|PMID:19401933|PMID:19460837|PMID:1961762|PMID:19656452|PMID:19656453|PMID:19694018|PMID:2025226|PMID:20301372|PMID:20978940|PMID:2227955|PMID:2243128|PMID:23815679|PMID:24997713|PMID:25016127|PMID:25118551|PMID:25637381|PMID:25741868|PMID:26075277|PMID:26095755|PMID:26582343|PMID:27507172|PMID:27539938|PMID:27558376|PMID:27849156|PMID:27884173|PMID:2789372|PMID:28492532|PMID:2864531|PMID:29360981|PMID:30740734|PMID:31044425|PMID:31073229|PMID:32581362|PMID:33445488|PMID:34089223|PMID:6985467|PMID:7635464|PMID:7757070|PMID:7962538|PMID:8081367|PMID:8096492|PMID:8168829|PMID:8262514|PMID:8262523|PMID:8268934|PMID:8270254|PMID:8270256|PMID:8401516|PMID:8565205|PMID:9067752|PMID:9199558|PMID:9225970|PMID:9238757|PMID:9281416|PMID:9350165|PMID:9463797|PMID:9536098|PMID:9702975 12193806 HMBS hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria severity ISO RGD:733096 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: p.R167Q (c.500G>A) (mouse) PMID:30615115|REF_RGD_ID:21079460 12193806 HMBS hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria susceptibility ISO RGD:733095 D RGD:9068941 20200609 RGD DNA:missense mutation:exon 10: p.R173W (c.517C>T) (human) PMID:9523350|REF_RGD_ID:19165353 12193806 HMBS hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria treatment ISO RGD:733095 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:28990424|REF_RGD_ID:21079452 12193806 HMBS hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria treatment ISO RGD:733095 D RGD:9068941 20200609 RGD human mRNA in a mouse model PMID:30297912|REF_RGD_ID:21079456 12193806 HMBS hydroxymethylbilane synthase gene DOID:4440 seminoma ISO RGD:733095 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor PMID:15823405|REF_RGD_ID:2301683 12193806 HMBS hydroxymethylbilane synthase gene DOID:5212 congenital disorder of glycosylation ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:18414213|PMID:25741868|PMID:28492532 12193806 HMBS hydroxymethylbilane synthase gene DOID:5419 schizophrenia ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12193806 HMBS hydroxymethylbilane synthase gene DOID:630 genetic disease ISO RGD:733095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26795593|PMID:28492532 12193806 HMBS hydroxymethylbilane synthase gene DOID:686 liver carcinoma sexual_dimorphism ISO RGD:2801 D RGD:9068941 20200609 RGD Protein:increased activity:liver (rat) PMID:1781034|REF_RGD_ID:25440495 12193806 HMBS hydroxymethylbilane synthase gene DOID:9000808 Hypercholesterolemia ISO RGD:733095 D RGD:9068941 20200609 RGD associated with Porphyria, Acute Intermittent (MeSH:D017118); protein:reduced activity:erythrocytes PMID:2809566|REF_RGD_ID:2301684 12193806 HMBS hydroxymethylbilane synthase gene DOID:9002558 Acute Intermittent Porphyria, Nonerythroid Variant ISO RGD:733095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Porphyria, acute intermittent, nonerythroid variant PMID:10343207|PMID:11071386|PMID:12406973|PMID:16199547|PMID:2511016|PMID:2563167|PMID:25923088|PMID:27539938|PMID:28492532|PMID:2915972|PMID:7757070|PMID:7962538|PMID:9199558|PMID:9860299 12193806 HMBS hydroxymethylbilane synthase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12193806 HMBS hydroxymethylbilane synthase gene DOID:9005584 Hepatic Porphyrias ISO RGD:2801 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:6721832|REF_RGD_ID:4144806 12193806 HMBS hydroxymethylbilane synthase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2801 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:6688350|REF_RGD_ID:4144808 12193806 HMBS hydroxymethylbilane synthase gene DOID:9005734 Abdominal Pain ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abdominal pain 12193806 HMBS hydroxymethylbilane synthase gene DOID:9006618 Liver Metastasis ISO RGD:2801 D RGD:9068941 20200609 RGD associated with colon adenocarcinoma;protein:decreased activity:liver(rat) PMID:1386052|REF_RGD_ID:25440496 12193806 HMBS hydroxymethylbilane synthase gene DOID:9007661 Dwarfism ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12193806 HMBS hydroxymethylbilane synthase gene DOID:9008385 Vomiting ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vomiting PMID:25741868 12193841 CDH5 cadherin 5 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1316531 D RGD:9068941 20230511 MouseDO 12193841 CDH5 cadherin 5 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1316530 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12193841 CDH5 cadherin 5 gene DOID:0110255 cataract 5 multiple types ISO RGD:1316530 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 12193841 CDH5 cadherin 5 gene DOID:12236 primary biliary cholangitis ISO RGD:1316530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 12193841 CDH5 cadherin 5 gene DOID:1790 malignant mesothelioma ISO RGD:1316530 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 12193841 CDH5 cadherin 5 gene DOID:3393 coronary artery disease ISO RGD:1316530 D RGD:9068941 20200609 RGD PMID:14695457|REF_RGD_ID:1598391 12193841 CDH5 cadherin 5 gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:1316530 D RGD:9068941 20220310 RGD PMID:32626543|REF_RGD_ID:151665104 12193841 CDH5 cadherin 5 gene DOID:630 genetic disease ISO RGD:1316530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193841 CDH5 cadherin 5 gene DOID:6432 pulmonary hypertension ISO RGD:1307370 D RGD:9068941 20200924 RGD protein:decreased expression:lung PMID:25593290|REF_RGD_ID:38500244 12193841 CDH5 cadherin 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12193841 CDH5 cadherin 5 gene DOID:9005527 No-Reflow Phenomenon ISO RGD:1316530 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16824628 12193841 CDH5 cadherin 5 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1307370 D RGD:9068941 20200924 RGD protein:decreased expression:lung PMID:25593290|REF_RGD_ID:38500244 12193841 CDH5 cadherin 5 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1316530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12193841 CDH5 cadherin 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 12193841 CDH5 cadherin 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1316530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 12193857 KCNA3 potassium voltage-gated channel subfamily A member 3 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1342945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12193857 KCNA3 potassium voltage-gated channel subfamily A member 3 gene DOID:12849 autistic disorder ISO RGD:1342945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12193857 KCNA3 potassium voltage-gated channel subfamily A member 3 gene DOID:630 genetic disease ISO RGD:1342945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193862 PLXDC1 plexin domain containing 1 gene DOID:630 genetic disease ISO RGD:1352937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193862 PLXDC1 plexin domain containing 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1352937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12193887 MAPK4 mitogen-activated protein kinase 4 gene DOID:1059 intellectual disability ISO RGD:736964 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12193887 MAPK4 mitogen-activated protein kinase 4 gene DOID:630 genetic disease ISO RGD:736964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193906 HAMP hepcidin antimicrobial peptide gene DOID:0050649 atransferrinemia treatment ISO RGD:1550218 D RGD:9068941 20200609 RGD PMID:20956801|REF_RGD_ID:11041615 12193906 HAMP hepcidin antimicrobial peptide gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1550218 D RGD:9068941 20200609 RGD associated with iron overload;protein:increased expression:serum (human) PMID:29871592|REF_RGD_ID:15042878 12193906 HAMP hepcidin antimicrobial peptide gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1550218 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:28051796|REF_RGD_ID:15042880 12193906 HAMP hepcidin antimicrobial peptide gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:70971 D RGD:9068941 20200609 RGD associated with iron overload;protein:increased expression:serum (human) PMID:29871592|REF_RGD_ID:15042878 12193906 HAMP hepcidin antimicrobial peptide gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:28051796|REF_RGD_ID:15042880 12193906 HAMP hepcidin antimicrobial peptide gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736414 D RGD:9068941 20200609 RGD associated with iron overload;protein:increased expression:serum (human) PMID:29871592|REF_RGD_ID:15042878 12193906 HAMP hepcidin antimicrobial peptide gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736414 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:28051796|REF_RGD_ID:15042880 12193906 HAMP hepcidin antimicrobial peptide gene DOID:0110222 Brugada syndrome 5 ISO RGD:736414 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12193906 HAMP hepcidin antimicrobial peptide gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:736414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12193906 HAMP hepcidin antimicrobial peptide gene DOID:0111027 hemochromatosis type 2A ISO RGD:736414 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Hemochromatosis, type 2a, modifier of PMID:12915468|PMID:19214511|PMID:28492532 12193906 HAMP hepcidin antimicrobial peptide gene DOID:0111029 hemochromatosis type 1 ISO RGD:736414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 1 PMID:12915468|PMID:17576681|PMID:19214511|PMID:28492532|PMID:9536098 12193906 HAMP hepcidin antimicrobial peptide gene DOID:0111032 hemochromatosis type 2B ISO RGD:736414 D RGD:7240710 20180130 OMIM 12193906 HAMP hepcidin antimicrobial peptide gene DOID:0111032 hemochromatosis type 2B ISO RGD:736414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 2B PMID:12469120|PMID:12915468|PMID:15082576|PMID:15198949|PMID:19214511|PMID:21088809|PMID:25326637|PMID:25741868|PMID:28492532 12193906 HAMP hepcidin antimicrobial peptide gene DOID:0111034 hemochromatosis type 2 ISO RGD:736414 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Juvenile hemochromatosis 12193906 HAMP hepcidin antimicrobial peptide gene DOID:11758 iron deficiency anemia ISO RGD:1550218 D RGD:9068941 20200609 RGD PMID:17218383|REF_RGD_ID:11041606 12193906 HAMP hepcidin antimicrobial peptide gene DOID:11758 iron deficiency anemia ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:22457245|REF_RGD_ID:11041634 12193906 HAMP hepcidin antimicrobial peptide gene DOID:12236 primary biliary cholangitis ISO RGD:736414 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:19652645|REF_RGD_ID:11041639 12193906 HAMP hepcidin antimicrobial peptide gene DOID:12236 primary biliary cholangitis treatment ISO RGD:70971 D RGD:9068941 20200609 RGD PMID:23704825|REF_RGD_ID:11041732 12193906 HAMP hepcidin antimicrobial peptide gene DOID:12241 beta thalassemia ISO RGD:736414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16755567 12193906 HAMP hepcidin antimicrobial peptide gene DOID:12241 beta thalassemia ISO RGD:736414 D RGD:9068941 20200609 RGD PMID:23905873|REF_RGD_ID:11041617 12193906 HAMP hepcidin antimicrobial peptide gene DOID:12241 beta thalassemia treatment ISO RGD:1550218 D RGD:9068941 20200609 RGD PMID:17299088|REF_RGD_ID:11041616 12193906 HAMP hepcidin antimicrobial peptide gene DOID:1340 pure red-cell aplasia ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:25580431|REF_RGD_ID:11041717 12193906 HAMP hepcidin antimicrobial peptide gene DOID:13608 biliary atresia ISO RGD:736414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16627878 12193906 HAMP hepcidin antimicrobial peptide gene DOID:13619 extrahepatic cholestasis ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:19652645|REF_RGD_ID:11041639 12193906 HAMP hepcidin antimicrobial peptide gene DOID:2352 hemochromatosis ISO RGD:736414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hemochromatosis, juvenile, digenic | ClinVar Annotator: match by term: Hereditary hemochromatosis PMID:12915468|PMID:14630809|PMID:14670915|PMID:15024747|PMID:15082576|PMID:15099344|PMID:16141345|PMID:16199547|PMID:17576681|PMID:19214511|PMID:19787796|PMID:21088809|PMID:21411349|PMID:22297252|PMID:25326637|PMID:25741868|PMID:26310624|PMID:26547814|PMID:26799139|PMID:28492532|PMID:33016646|PMID:9536098 12193906 HAMP hepcidin antimicrobial peptide gene DOID:2355 anemia ISO RGD:1550218 D RGD:9068941 20200609 RGD associated with Inflammation PMID:24357729|REF_RGD_ID:11041614 12193906 HAMP hepcidin antimicrobial peptide gene DOID:2355 anemia ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:21411831|REF_RGD_ID:11041773 12193906 HAMP hepcidin antimicrobial peptide gene DOID:2355 anemia ISO RGD:736414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16434484|PMID:16627556|PMID:24086573 12193906 HAMP hepcidin antimicrobial peptide gene DOID:2355 anemia ISO RGD:736414 D RGD:9068941 20200609 RGD associated with Malaria, Falciparum PMID:22689680|REF_RGD_ID:11041620 12193906 HAMP hepcidin antimicrobial peptide gene DOID:2355 anemia treatment ISO RGD:70971 D RGD:9068941 20200609 RGD associated with Inflammation PMID:21730356|PMID:24895335|REF_RGD_ID:11041618|REF_RGD_ID:11041619 12193906 HAMP hepcidin antimicrobial peptide gene DOID:2355 anemia treatment ISO RGD:736414 D RGD:9068941 20200609 RGD associated with Multiple Myeloma PMID:25052873|REF_RGD_ID:11041612 12193906 HAMP hepcidin antimicrobial peptide gene DOID:3525 middle cerebral artery infarction ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex, hippocampus, corpus striatum PMID:21957487|REF_RGD_ID:11041635 12193906 HAMP hepcidin antimicrobial peptide gene DOID:543 dystonia ISO RGD:736414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12193906 HAMP hepcidin antimicrobial peptide gene DOID:5844 myocardial infarction ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:19615879|REF_RGD_ID:11041636 12193906 HAMP hepcidin antimicrobial peptide gene DOID:6000 congestive heart failure ISO RGD:736414 D RGD:9068941 20200609 RGD protein:increased expression:serum, urine PMID:21080339|REF_RGD_ID:11041621 12193906 HAMP hepcidin antimicrobial peptide gene DOID:630 genetic disease ISO RGD:736414 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12193906 HAMP hepcidin antimicrobial peptide gene DOID:684 hepatocellular carcinoma ISO RGD:736414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12193906 HAMP hepcidin antimicrobial peptide gene DOID:684 hepatocellular carcinoma ISO RGD:736414 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:29235098|REF_RGD_ID:15042879 12193906 HAMP hepcidin antimicrobial peptide gene DOID:783 end stage renal disease ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:20631677|REF_RGD_ID:11041611 12193906 HAMP hepcidin antimicrobial peptide gene DOID:783 end stage renal disease ISO RGD:736414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16929540 12193906 HAMP hepcidin antimicrobial peptide gene DOID:783 end stage renal disease ISO RGD:736414 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19212416|REF_RGD_ID:11041622 12193906 HAMP hepcidin antimicrobial peptide gene DOID:820 myocarditis ISO RGD:736414 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:19615879|REF_RGD_ID:11041636 12193906 HAMP hepcidin antimicrobial peptide gene DOID:893 Wilson disease ISO RGD:736414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 12193906 HAMP hepcidin antimicrobial peptide gene DOID:9000099 Experimental Colitis ISO RGD:70971 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:24764672|REF_RGD_ID:11041628 12193906 HAMP hepcidin antimicrobial peptide gene DOID:9002265 Kidney Neoplasms ISO RGD:736414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 12193906 HAMP hepcidin antimicrobial peptide gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:19615879|REF_RGD_ID:11041636 12193906 HAMP hepcidin antimicrobial peptide gene DOID:9003936 Cardiomegaly ISO RGD:70971 D RGD:9068941 20200609 RGD PMID:24424338|REF_RGD_ID:11041632 12193906 HAMP hepcidin antimicrobial peptide gene DOID:9005099 Salmonella Infections, Animal ISO RGD:1550218 D RGD:9068941 20200609 RGD PMID:23390527|REF_RGD_ID:11041609 12193906 HAMP hepcidin antimicrobial peptide gene DOID:9005725 Iron Overload ISO RGD:70971 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19524651|REF_RGD_ID:11041720 12193906 HAMP hepcidin antimicrobial peptide gene DOID:9005725 Iron Overload ISO RGD:736414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20801540|PMID:22659129 12193906 HAMP hepcidin antimicrobial peptide gene DOID:9005725 Iron Overload ISO RGD:736414 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia;DNA:SNP:promoter:c.-582A>G (rs10421768) (human) PMID:19734422|REF_RGD_ID:11041610 12193906 HAMP hepcidin antimicrobial peptide gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:19253830|REF_RGD_ID:11041633 12193906 HAMP hepcidin antimicrobial peptide gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:increased expression:hepatocyte PMID:24373749|REF_RGD_ID:11041724 12193906 HAMP hepcidin antimicrobial peptide gene DOID:9007692 Insulin Resistance ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:17350134|REF_RGD_ID:1601515 12193906 HAMP hepcidin antimicrobial peptide gene DOID:9008114 Helicobacter Infections treatment ISO RGD:736414 D RGD:9068941 20200609 RGD PMID:21757452|REF_RGD_ID:11041721 12193906 HAMP hepcidin antimicrobial peptide gene DOID:9008550 Vitamin A Deficiency ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:19217259|REF_RGD_ID:11041734 12193906 HAMP hepcidin antimicrobial peptide gene DOID:9775 diastolic heart failure ISO RGD:736414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12193906 Hamp hepcidin antimicrobial peptide gene DOID:684 hepatocellular carcinoma ISO RGD:1550218 D RGD:9068941 20200609 RGD DNA:hypermethylation,hypomethylation:promoter PMID:29235098|REF_RGD_ID:15042879 12193906 Hamp hepcidin antimicrobial peptide gene DOID:684 hepatocellular carcinoma ISO RGD:70971 D RGD:9068941 20200609 RGD DNA:hypermethylation,hypomethylation:promoter PMID:29235098|REF_RGD_ID:15042879 12193913 SGPP2 sphingosine-1-phosphate phosphatase 2 gene DOID:630 genetic disease ISO RGD:1346522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193913 SGPP2 sphingosine-1-phosphate phosphatase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12193926 TBL1X transducin beta like 1 X-linked gene DOID:0060041 autism spectrum disorder ISO RGD:1346534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050706 12193926 TBL1X transducin beta like 1 X-linked gene DOID:0111837 congenital nongoitrous hypothyroidism 8 ISO RGD:1346534 D RGD:7240710 20191009 OMIM 12193926 TBL1X transducin beta like 1 X-linked gene DOID:0111837 congenital nongoitrous hypothyroidism 8 ISO RGD:1346534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 8 PMID:25741868|PMID:27603907|PMID:30591955 12193926 TBL1X transducin beta like 1 X-linked gene DOID:12849 autistic disorder ISO RGD:1346534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12193926 TBL1X transducin beta like 1 X-linked gene DOID:630 genetic disease ISO RGD:1346534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193926 TBL1X transducin beta like 1 X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12193947 CBS cystathionine beta-synthase gene DOID:0050731 vitamin B12 deficiency ISO RGD:2287 D RGD:9068941 20210108 RGD protein:decreased expression:liver (rat) PMID:2732804|REF_RGD_ID:40903037 12193947 CBS cystathionine beta-synthase gene DOID:0060041 autism spectrum disorder ISO RGD:737316 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12193947 CBS cystathionine beta-synthase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:737316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17119116 12193947 CBS cystathionine beta-synthase gene DOID:0080074 neural tube defect ISO RGD:737316 D RGD:9068941 20200609 RGD DNA:polymorphism:677C > T PMID:12649066|REF_RGD_ID:1600627 12193947 CBS cystathionine beta-synthase gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:737316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12193947 CBS cystathionine beta-synthase gene DOID:0110266 cataract 9 multiple types ISO RGD:737316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12193947 CBS cystathionine beta-synthase gene DOID:1059 intellectual disability ISO RGD:737316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10328723|PMID:10338090|PMID:10364517|PMID:10780316|PMID:10807759|PMID:11230183|PMID:11359213|PMID:11434706|PMID:11748855|PMID:12552044|PMID:1301198|PMID:14722927|PMID:15146473|PMID:15192637|PMID:16375773|PMID:17072863|PMID:17540596|PMID:18201569|PMID:18805305|PMID:19819175|PMID:20506325|PMID:2056790|PMID:20567906|PMID:21520339|PMID:22069143|PMID:22267502|PMID:23592311|PMID:24033266|PMID:25516723|PMID:25741868|PMID:26750749|PMID:28492532|PMID:28583326|PMID:33057012|PMID:33223529|PMID:6711564|PMID:7506602|PMID:7611293|PMID:7635485|PMID:7762555|PMID:8528202|PMID:8554066|PMID:8803779|PMID:8940271|PMID:9156316|PMID:9708897|PMID:9790750|PMID:9864922 12193947 CBS cystathionine beta-synthase gene DOID:10763 hypertension ISO RGD:737316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18224302 12193947 CBS cystathionine beta-synthase gene DOID:12365 malaria susceptibility ISO RGD:737316 D RGD:9068941 20210108 RGD DNA:insertion:cds: (844ins68) (human) PMID:27198213|REF_RGD_ID:40903062 12193947 CBS cystathionine beta-synthase gene DOID:1287 cardiovascular system disease ISO RGD:737316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16791140 12193947 CBS cystathionine beta-synthase gene DOID:14004 thoracic aortic aneurysm ISO RGD:737316 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10215408|PMID:10328723|PMID:10338090|PMID:10364517|PMID:10408774|PMID:10531322|PMID:10780316|PMID:10807759|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11524006|PMID:11553052|PMID:11748855|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12552044|PMID:12686134|PMID:12815602|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:15494741|PMID:16205833|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16429402|PMID:16479318|PMID:16619244|PMID:17069888|PMID:17072863|PMID:17319270|PMID:17327360|PMID:17352495|PMID:17540596|PMID:17576681|PMID:18201569|PMID:18280597|PMID:18454451|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19232736|PMID:19370759|PMID:19819175|PMID:19914636|PMID:20031640|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20694756|PMID:21030686|PMID:21062078|PMID:21240075|PMID:21308989|PMID:21517828|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22333527|PMID:22612060|PMID:22738154|PMID:22891245|PMID:22985361|PMID:23592311|PMID:23733603|PMID:23934999|PMID:23974653|PMID:24033266|PMID:24211323|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25331909|PMID:25516723|PMID:25741868|PMID:26464485|PMID:26750749|PMID:27243974|PMID:27604992|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28152038|PMID:28303347|PMID:28421128|PMID:28488385|PMID:28492532|PMID:28550590|PMID:28583326|PMID:29158550|PMID:29205322|PMID:29352562|PMID:29590070|PMID:29650765|PMID:30019023|PMID:30050925|PMID:30165906|PMID:30202406|PMID:30556376|PMID:30873612|PMID:31139930|PMID:31211624|PMID:31301157|PMID:31664448|PMID:32000841|PMID:32232970|PMID:32245022|PMID:33223529|PMID:33985475|PMID:34426522|PMID:6711564|PMID:7506602|PMID:7564249|PMID:7581402|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7967489|PMID:7981678|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8744616|PMID:8755636|PMID:8803779|PMID:8940271|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9675031|PMID:9708897|PMID:9790750|PMID:9864922|PMID:9889017 12193947 CBS cystathionine beta-synthase gene DOID:14004 thoracic aortic aneurysm ISO RGD:737316 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10215408|PMID:10328723|PMID:10338090|PMID:10364517|PMID:10408774|PMID:10531322|PMID:10780316|PMID:10807759|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11524006|PMID:11553052|PMID:11748855|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12552044|PMID:12686134|PMID:12815602|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:15494741|PMID:16205833|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16429402|PMID:16479318|PMID:16619244|PMID:17069888|PMID:17072863|PMID:17319270|PMID:17327360|PMID:17352495|PMID:17540596|PMID:17576681|PMID:18201569|PMID:18280597|PMID:18454451|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19232736|PMID:19370759|PMID:19819175|PMID:19914636|PMID:20031640|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20694756|PMID:21030686|PMID:21062078|PMID:21240075|PMID:21308989|PMID:21517828|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22333527|PMID:22612060|PMID:22738154|PMID:22891245|PMID:22985361|PMID:23592311|PMID:23733603|PMID:23934999|PMID:23974653|PMID:24033266|PMID:24211323|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25331909|PMID:25516723|PMID:25741868|PMID:26464485|PMID:26750749|PMID:27243974|PMID:27604992|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28152038|PMID:28303347|PMID:28421128|PMID:28488385|PMID:28492532|PMID:28550590|PMID:28583326|PMID:29158550|PMID:29205322|PMID:29352562|PMID:29590070|PMID:29650765|PMID:30019023|PMID:30050925|PMID:30165906|PMID:30202406|PMID:30380942|PMID:30556376|PMID:30873612|PMID:31139930|PMID:31211624|PMID:31301157|PMID:31664448|PMID:32000841|PMID:32232970|PMID:32245022|PMID:33223529|PMID:33985475|PMID:34426522|PMID:6711564|PMID:7506602|PMID:7564249|PMID:7581402|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7967489|PMID:7981678|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8744616|PMID:8755636|PMID:8803779|PMID:8940271|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9675031|PMID:9708897|PMID:9790750|PMID:9864922|PMID:9889017 12193947 CBS cystathionine beta-synthase gene DOID:1909 melanoma ISO RGD:737316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25205294 12193947 CBS cystathionine beta-synthase gene DOID:224 transient cerebral ischemia ISO RGD:10297 D RGD:9068941 20210219 RGD XCO:0000348 PMID:22212488|REF_RGD_ID:41410880 12193947 CBS cystathionine beta-synthase gene DOID:224 transient cerebral ischemia treatment ISO RGD:10297 D RGD:9068941 20210219 RGD XCO:0000807 PMID:22212488|REF_RGD_ID:41410880 12193947 CBS cystathionine beta-synthase gene DOID:3393 coronary artery disease ISO RGD:737316 D RGD:9068941 20200609 RGD CBS variant c.844ins68 PMID:12855221|REF_RGD_ID:1600626 12193947 CBS cystathionine beta-synthase gene DOID:399 tuberculosis ISO RGD:10297 D RGD:9068941 20210108 RGD protein:increased expression:macrophages (mouse) PMID:31992699|REF_RGD_ID:40903052 12193947 CBS cystathionine beta-synthase gene DOID:399 tuberculosis severity ISO RGD:10297 D RGD:9068941 20210108 RGD PMID:31992699|REF_RGD_ID:40903052 12193947 CBS cystathionine beta-synthase gene DOID:630 genetic disease ISO RGD:737316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10338090|PMID:10363126|PMID:11204591|PMID:12124992|PMID:12815602|PMID:15365998|PMID:15993874|PMID:16205833|PMID:16429402|PMID:16470595|PMID:16479318|PMID:19906435|PMID:20506325|PMID:20601281|PMID:21240075|PMID:21520339|PMID:22002135|PMID:22069143|PMID:22267502|PMID:24033266|PMID:24138954|PMID:25218699|PMID:25336647|PMID:25741868|PMID:27681349|PMID:28492532|PMID:29352562|PMID:31301157|PMID:32232970|PMID:32245022|PMID:32769498|PMID:33335839|PMID:35281663|PMID:7762555|PMID:8940271|PMID:8940285|PMID:9361025|PMID:9813456 12193947 CBS cystathionine beta-synthase gene DOID:65 connective tissue disease ISO RGD:737316 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:10328723|PMID:10338090|PMID:10364517|PMID:10780316|PMID:10807759|PMID:11230183|PMID:11359213|PMID:11434706|PMID:11748855|PMID:12124992|PMID:12552044|PMID:12686134|PMID:1301198|PMID:14635102|PMID:14722927|PMID:15146473|PMID:15192637|PMID:15494741|PMID:16375773|PMID:17072863|PMID:17540596|PMID:18201569|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19819175|PMID:20506325|PMID:2056790|PMID:20567906|PMID:21062078|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22069143|PMID:22267502|PMID:22612060|PMID:23592311|PMID:24033266|PMID:25331909|PMID:25516723|PMID:25741868|PMID:26750749|PMID:28152038|PMID:28492532|PMID:28583326|PMID:29205322|PMID:29650765|PMID:30165906|PMID:30380942|PMID:31139930|PMID:31211624|PMID:31301157|PMID:31664448|PMID:32245022|PMID:33223529|PMID:6711564|PMID:7506602|PMID:7611293|PMID:7635485|PMID:7762555|PMID:8554066|PMID:8803779|PMID:8940271|PMID:9361025|PMID:9708897|PMID:9790750|PMID:9864922 12193947 CBS cystathionine beta-synthase gene DOID:891 progressive myoclonus epilepsy ISO RGD:737316 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12193947 CBS cystathionine beta-synthase gene DOID:9003619 Homocystinuria, Pyridoxine-Responsive ISO RGD:737316 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Homocystinuria, pyridoxine-responsive PMID:10215408|PMID:10328723|PMID:10338090|PMID:10364517|PMID:10408774|PMID:10531322|PMID:10780316|PMID:10807759|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11748855|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12552044|PMID:12686134|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16479318|PMID:16619244|PMID:17069888|PMID:17072863|PMID:17540596|PMID:18201569|PMID:18805305|PMID:19232736|PMID:19819175|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:21520339|PMID:21626167|PMID:22069143|PMID:22267502|PMID:22333527|PMID:22612060|PMID:22738154|PMID:22985361|PMID:23592311|PMID:23974653|PMID:24033266|PMID:24211323|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25331909|PMID:25516723|PMID:25741868|PMID:26750749|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28488385|PMID:28492532|PMID:28583326|PMID:29650765|PMID:30050925|PMID:32000841|PMID:32232970|PMID:32245022|PMID:33057012|PMID:33223529|PMID:33985475|PMID:34426522|PMID:6711564|PMID:7506602|PMID:7611293|PMID:7635485|PMID:7762555|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8755636|PMID:8803779|PMID:8940271|PMID:8990018|PMID:9361025|PMID:9587029|PMID:9708897|PMID:9790750|PMID:9864922 12193947 CBS cystathionine beta-synthase gene DOID:9004484 Sepsis susceptibility ISO RGD:737316 D RGD:9068941 20210108 RGD DNA:SNP:intron (rs6586282, rs34758144) (human) PMID:26508567|REF_RGD_ID:40903018 12193947 CBS cystathionine beta-synthase gene DOID:9005695 Malnutrition ISO RGD:737316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16709328 12193947 CBS cystathionine beta-synthase gene DOID:9005729 Chronic Experimental Pancreatitis ISO RGD:2287 D RGD:9068941 20210108 RGD protein:increased expression:arcuate nucleus (rat) PMID:27778022|REF_RGD_ID:38456012 12193947 CBS cystathionine beta-synthase gene DOID:9005930 Endotoxemia ISO RGD:10297 D RGD:9068941 20210108 RGD PMID:27748832|REF_RGD_ID:40903019 12193947 CBS cystathionine beta-synthase gene DOID:9005930 Endotoxemia ISO RGD:2287 D RGD:9068941 20210108 RGD mRNA:increased expression:liver (rat) PMID:16100527|REF_RGD_ID:40903049 12193947 CBS cystathionine beta-synthase gene DOID:9005930 Endotoxemia severity ISO RGD:10297 D RGD:9068941 20210108 RGD PMID:24702258|REF_RGD_ID:40903035 12193947 CBS cystathionine beta-synthase gene DOID:9005930 Endotoxemia severity ISO RGD:10297 D RGD:9068941 20210108 RGD Protein:increased expression:spleen, lung (mouse) PMID:27748832|REF_RGD_ID:40903019 12193947 CBS cystathionine beta-synthase gene DOID:9263 homocystinuria ISO RGD:737316 D RGD:7240710 20180130 OMIM 12193947 CBS cystathionine beta-synthase gene DOID:9263 homocystinuria ISO RGD:737316 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CBS deficiency | ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency | ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | ClinVar Annotator: match by term: Homocystinuria | ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive PMID:10215408|PMID:10328723|PMID:10338090|PMID:10363126|PMID:10364517|PMID:10408774|PMID:10462600|PMID:10531322|PMID:10687314|PMID:10780316|PMID:10807759|PMID:11204591|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11522031|PMID:11524006|PMID:11553052|PMID:11748855|PMID:11774777|PMID:11926827|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12379655|PMID:12552044|PMID:12686134|PMID:12815602|PMID:12828591|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:15494741|PMID:15993874|PMID:16167124|PMID:16199547|PMID:16205833|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16429402|PMID:16470595|PMID:16479318|PMID:16619244|PMID:16786517|PMID:17056636|PMID:17069888|PMID:17072863|PMID:17319270|PMID:17327360|PMID:17352495|PMID:17540596|PMID:17576681|PMID:17601930|PMID:18194900|PMID:18201569|PMID:18280597|PMID:18423051|PMID:18454451|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19232736|PMID:19370759|PMID:19429038|PMID:19819175|PMID:19906435|PMID:19914636|PMID:20031640|PMID:20066033|PMID:20308073|PMID:20455263|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20601281|PMID:20694756|PMID:20821054|PMID:20871414|PMID:21030686|PMID:21062078|PMID:21240075|PMID:21308989|PMID:21517828|PMID:2152033|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22002135|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22333527|PMID:22353391|PMID:22382802|PMID:22612060|PMID:22738154|PMID:22891245|PMID:22977242|PMID:22985361|PMID:23592311|PMID:23733603|PMID:23812867|PMID:23934999|PMID:23974653|PMID:23981774|PMID:24033266|PMID:24138954|PMID:24211323|PMID:24613005|PMID:24990611|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25331909|PMID:25336647|PMID:25455305|PMID:25516723|PMID:25640679|PMID:25741868|PMID:25939784|PMID:26464485|PMID:26667307|PMID:26750749|PMID:27243974|PMID:27604992|PMID:27681349|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28152038|PMID:28303347|PMID:28421128|PMID:28488385|PMID:28492532|PMID:28550590|PMID:28583326|PMID:28980096|PMID:29158550|PMID:29205322|PMID:29326875|PMID:29352562|PMID:29508359|PMID:29590070|PMID:29600437|PMID:29650765|PMID:30019023|PMID:30050925|PMID:30165906|PMID:30202406|PMID:30246729|PMID:30380942|PMID:30556376|PMID:30732165|PMID:30873612|PMID:31139930|PMID:31211624|PMID:31240737|PMID:31279624|PMID:31301157|PMID:31664448|PMID:32000841|PMID:32232970|PMID:32245022|PMID:32768567|PMID:32769498|PMID:33057012|PMID:33223529|PMID:33335839|PMID:33985475|PMID:34426522|PMID:34449519|PMID:34449521|PMID:34818515|PMID:34842599|PMID:35281663|PMID:6711564|PMID:7506602|PMID:7564249|PMID:7581402|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7849717|PMID:7967489|PMID:7981678|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8744616|PMID:8755636|PMID:8803779|PMID:8940271|PMID:8940285|PMID:8990018|PMID:9156316|PMID:9232191|PMID:9266356|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9590298|PMID:9675031|PMID:9708897|PMID:9790750|PMID:9813456|PMID:9864922|PMID:9870207|PMID:9889017 12193947 CBS cystathionine beta-synthase gene DOID:9279 hyperhomocysteinemia ISO RGD:737316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperhomocysteinemia PMID:12686134|PMID:16205833|PMID:16479318|PMID:21517828|PMID:22267502|PMID:22977242|PMID:25741868|PMID:28492532|PMID:7762555 12193947 CBS cystathionine beta-synthase gene DOID:9279 hyperhomocysteinemia susceptibility ISO RGD:737316 D RGD:9068941 20210108 RGD associated with coronary artery disease; DNA:insertion:cds: (844ins68) (human) PMID:10704624|REF_RGD_ID:40903036 12193947 CBS cystathionine beta-synthase gene DOID:9352 type 2 diabetes mellitus ISO RGD:737316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23665415 12193947 CBS cystathionine beta-synthase gene DOID:9562 primary ciliary dyskinesia ISO RGD:737316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12193947 CBS cystathionine beta-synthase gene DOID:9778 irritable bowel syndrome severity ISO RGD:10297 D RGD:9068941 20210108 RGD PMID:27472293|REF_RGD_ID:40903054 12193967 TP53RK TP53 regulating kinase gene DOID:0080246 Galloway-Mowat syndrome 4 ISO RGD:1317644 D RGD:7240710 20190315 OMIM 12193967 TP53RK TP53 regulating kinase gene DOID:0080246 Galloway-Mowat syndrome 4 ISO RGD:1317644 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 PMID:25741868|PMID:28492532|PMID:28805828|PMID:32581362 12193967 TP53RK TP53 regulating kinase gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1317644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28805828 12193967 TP53RK TP53 regulating kinase gene DOID:2234 focal epilepsy ISO RGD:1317644 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12193967 TP53RK TP53 regulating kinase gene DOID:630 genetic disease ISO RGD:1317644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12193967 TP53RK TP53 regulating kinase gene DOID:9008086 Developmental Disabilities ISO RGD:1317644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:32581362 12193973 KLF8 KLF transcription factor 8 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12193973 KLF8 KLF transcription factor 8 gene DOID:12849 autistic disorder ISO RGD:1348117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12193973 KLF8 KLF transcription factor 8 gene DOID:630 genetic disease ISO RGD:1348117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12193996 BEX5 brain expressed X-linked 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12193996 BEX5 brain expressed X-linked 5 gene DOID:12849 autistic disorder ISO RGD:1348519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12193996 BEX5 brain expressed X-linked 5 gene DOID:630 genetic disease ISO RGD:1348519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12194006 MIR26A-1 microRNA mir-26a-1 gene DOID:0050451 Brugada syndrome ISO RGD:1347029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 12194006 MIR26A-1 microRNA mir-26a-1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:2325337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12194006 MIR26A-1 microRNA mir-26a-1 gene DOID:3021 acute kidney failure ISO RGD:2325337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 12194006 MIR26A-1 microRNA mir-26a-1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2325337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12194006 MIR26A-1 microRNA mir-26a-1 gene DOID:9002457 Experimental Arthritis ISO RGD:2325337 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24423102 12194006 MIR26A-1 microRNA mir-26a-1 gene DOID:9002661 Diabetes Complications ISO RGD:1347029 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35554780 12194006 MIR26A-1 microRNA mir-26a-1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2325337 D RGD:9068941 20200609 RGD PMID:29978610|REF_RGD_ID:13792725 12194006 MIR26A-1 microRNA mir-26a-1 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1347029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 12194040 CTSV cathepsin V gene DOID:1059 intellectual disability ISO RGD:1344069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12194040 CTSV cathepsin V gene DOID:630 genetic disease ISO RGD:1344069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12194086 VSIR V-set immunoregulatory receptor gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:1605963 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:25741868 12194086 VSIR V-set immunoregulatory receptor gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1605963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome 12194086 VSIR V-set immunoregulatory receptor gene DOID:0110831 Usher syndrome type 1D ISO RGD:1605963 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID PMID:25741868 12194086 VSIR V-set immunoregulatory receptor gene DOID:0111330 combined saposin deficiency ISO RGD:1605963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency PMID:28492532 12194086 VSIR V-set immunoregulatory receptor gene DOID:0112008 pituitary adenoma 5 ISO RGD:1605963 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types PMID:25741868 12194086 VSIR V-set immunoregulatory receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12194116 TMEM132C transmembrane protein 132C gene DOID:11372 megacolon ISO RGD:1601730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12194116 TMEM132C transmembrane protein 132C gene DOID:630 genetic disease ISO RGD:1601730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12194131 WFDC2 WAP four-disulfide core domain 2 gene DOID:2234 focal epilepsy ISO RGD:1344525 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12194131 WFDC2 WAP four-disulfide core domain 2 gene DOID:630 genetic disease ISO RGD:1344525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12194131 WFDC2 WAP four-disulfide core domain 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1344525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12194131 WFDC2 WAP four-disulfide core domain 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12194137 TRAM2 translocation associated membrane protein 2 gene DOID:630 genetic disease ISO RGD:1345669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12194153 EXO5 exonuclease 5 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1601975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12194153 EXO5 exonuclease 5 gene DOID:630 genetic disease ISO RGD:1601975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12194160 RGS10 regulator of G protein signaling 10 gene DOID:11206 opioid abuse ISO RGD:3562 D RGD:9068941 20200609 RGD PMID:22056472|REF_RGD_ID:13524518 12194160 RGS10 regulator of G protein signaling 10 gene DOID:630 genetic disease ISO RGD:737086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12194160 RGS10 regulator of G protein signaling 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12194160 RGS10 regulator of G protein signaling 10 gene DOID:9007090 Experimental Seizures ISO RGD:3562 D RGD:9068941 20200609 RGD PMID:12358788|REF_RGD_ID:13524540 12194174 RHOT2 ras homolog family member T2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1347429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12194174 RHOT2 ras homolog family member T2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1347429 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12194174 RHOT2 ras homolog family member T2 gene DOID:1826 epilepsy ISO RGD:1347429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12194174 RHOT2 ras homolog family member T2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1347429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12194174 RHOT2 ras homolog family member T2 gene DOID:630 genetic disease ISO RGD:1347429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12194209 H2AC18 H2A clustered histone 18 gene DOID:1540 parathyroid carcinoma ISO RGD:1316194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12194209 H2AC18 H2A clustered histone 18 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12194214 WDR64 WD repeat domain 64 gene DOID:0111261 fumarase deficiency ISO RGD:1605299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12761039|PMID:21398687|PMID:22069215|PMID:28300276|PMID:28492532 12194214 WDR64 WD repeat domain 64 gene DOID:1540 parathyroid carcinoma ISO RGD:1605299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12194214 WDR64 WD repeat domain 64 gene DOID:630 genetic disease ISO RGD:1605299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12194214 WDR64 WD repeat domain 64 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12194214 WDR64 WD repeat domain 64 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1605299 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 12194214 WDR64 WD repeat domain 64 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12194247 HNRNPLL heterogeneous nuclear ribonucleoprotein L like gene DOID:0080690 RASopathy ISO RGD:1353271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12194247 HNRNPLL heterogeneous nuclear ribonucleoprotein L like gene DOID:11211 buphthalmos ISO RGD:1353271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glaucoma PMID:19234632|PMID:28492532|PMID:31251480|PMID:9097971|PMID:9497261 12194247 HNRNPLL heterogeneous nuclear ribonucleoprotein L like gene DOID:3883 Lynch syndrome ISO RGD:1353271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12194247 HNRNPLL heterogeneous nuclear ribonucleoprotein L like gene DOID:630 genetic disease ISO RGD:1353271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12194267 MIR1307 microRNA mir-1307 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2312953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12194267 MIR1307 microRNA mir-1307 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2312953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12194301 ATP2B4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1348952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12194301 ATP2B4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:10283 prostate cancer ISO RGD:1348952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12194301 ATP2B4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1348952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12194301 ATP2B4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:543 dystonia ISO RGD:621305 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebellar cortex PMID:17092653|REF_RGD_ID:1599351 12194301 ATP2B4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:630 genetic disease ISO RGD:1348952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12194301 ATP2B4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1348952 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12194301 ATP2B4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:0060071 pre-malignant neoplasm ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24991542 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:0060390 distal 10q deletion syndrome ISO RGD:735904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.L53L, p.L84F (human) PMID:15885889|REF_RGD_ID:2317672 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:1240 leukemia ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16412662 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:12859 choreatic disease ISO RGD:735904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal dyskinesia PMID:32581362 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:1612 breast cancer severity ISO RGD:735904 D RGD:9068941 20200609 RGD protein:decreased expression:tumor (human) PMID:15741301|REF_RGD_ID:2317691 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:1612 breast cancer susceptibility ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.L84F, p.I143V (human) PMID:16014702|REF_RGD_ID:2317675 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:1793 pancreatic cancer ISO RGD:735904 D RGD:9068941 20200609 RGD protein:decreased expression:neuroendocrine tumor (human) PMID:19118063|REF_RGD_ID:2317628 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:1798 pancreatic endocrine carcinoma ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:14501508|REF_RGD_ID:2317661 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:1909 melanoma ISO RGD:3087 D RGD:9068941 20200609 RGD protein:increased activity:skin tumor (rat) PMID:20182810|REF_RGD_ID:2316960 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:234 colon adenocarcinoma ISO RGD:3087 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon (rat) PMID:16886601|REF_RGD_ID:1599637 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:2893 cervix carcinoma ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.I143V, p.K178R (human) PMID:17234722|REF_RGD_ID:2317690 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:2999 granulosa cell tumor ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:14970867|REF_RGD_ID:2317693 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:3068 glioblastoma ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20131314|PMID:22162573 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:3068 glioblastoma ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:transition:cds:p.L84F (human) PMID:14669534|REF_RGD_ID:2317667 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:3070 high grade glioma ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033832|PMID:16899598|PMID:19901110 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:3181 oligodendroglioma ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:15455350|REF_RGD_ID:2317688 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:3587 pancreatic ductal carcinoma ISO RGD:735904 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:ductal adenocarcinoma (human) PMID:9393761|REF_RGD_ID:2317664 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:3587 pancreatic ductal carcinoma susceptibility ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L84F rs12917 (human) PMID:16844323|REF_RGD_ID:2317648 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25520135 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:735904 D RGD:9068941 20210430 RGD DNA, protein:hypermethylation, decreased expression:promoter, esophagus PMID:21674174|REF_RGD_ID:126790574 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:4947 cholangiocarcinoma ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:17550320|REF_RGD_ID:2317632 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24991542 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:5577 gastrinoma ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:hypomethylation:promoter (human) PMID:17278096|REF_RGD_ID:2317340 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:630 genetic disease ISO RGD:735904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:768 retinoblastoma disease_progression ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:15799820|REF_RGD_ID:2317684 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:9000011 Gallbladder Neoplasms disease_progression ISO RGD:735904 D RGD:9068941 20200609 RGD protein:decreased expression:tumor (human) PMID:18158568|REF_RGD_ID:2317637 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:9000011 Gallbladder Neoplasms resistance ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:transition:exon:EX5-25C>T rs12917 (human) PMID:18708406|REF_RGD_ID:2317636 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:9002801 Recurrence ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20131314 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:9002936 Bile Duct Neoplasms severity ISO RGD:735904 D RGD:9068941 20200609 RGD protein:decreased expression:carcinoma of extrahepatic bile duct (human) PMID:11986189|REF_RGD_ID:2317662 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:9004207 Testicular Neoplasms ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:12483540|REF_RGD_ID:2317686 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:9005749 Necrosis ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21619552 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26410583 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:9007364 Mouth Neoplasms ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24991542 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:9007502 Brain Neoplasms ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20131314 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:9007502 Brain Neoplasms ISO RGD:735904 D RGD:9068941 20200609 RGD associated with Neoplasm Metastasis; DNA:hypermethylation:promoter (human) PMID:19274096|REF_RGD_ID:2317681 12194335 MGMT O-6-methylguanine-DNA methyltransferase gene DOID:9007787 Carcinoid Tumor ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:12584572|REF_RGD_ID:2317635 12194343 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:0060041 autism spectrum disorder ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:17173049|PMID:21984749|PMID:21984750|PMID:21984751|PMID:25255310|PMID:25356970|PMID:25741868|PMID:29719671|PMID:30763456 12194343 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:732251 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12194343 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:0070091 schizophrenia 15 ISO RGD:732251 D RGD:7240710 20180130 OMIM 12194343 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:0070091 schizophrenia 15 ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q13-RELATED | ClinVar Annotator: match by term: SHANK3-Related Disorder | ClinVar Annotator: match by term: Schizophrenia 15 PMID:20385823|PMID:25188300|PMID:25741868|PMID:28135719|PMID:29719671|PMID:30763456 12194343 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:732251 D RGD:7240710 20180130 OMIM 12194343 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:732251 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome PMID:17173049|PMID:20301377|PMID:21062623|PMID:22892527|PMID:23758743|PMID:24033266|PMID:24759409|PMID:25188300|PMID:25356970|PMID:25724810|PMID:25741868|PMID:27554343|PMID:28135719|PMID:29719671|PMID:30537371|PMID:30763456|PMID:32015180|PMID:32382396 12194343 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:1059 intellectual disability ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20385823|PMID:25167861|PMID:25188300|PMID:25741868|PMID:28135719|PMID:29719671|PMID:31690835|PMID:32581362 12194343 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:12849 autistic disorder ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868 12194343 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:13938 amenorrhea ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12194343 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:2468 psychotic disorder ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Psychotic disorder PMID:24759409|PMID:25741868 12194343 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:2843 long QT syndrome ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12194343 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:5419 schizophrenia ISO RGD:732251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12194343 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:5419 schizophrenia ISO RGD:732252 D RGD:9068941 20220825 MouseDO OMIM:181500 12194343 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:630 genetic disease ISO RGD:732251 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11431708|PMID:11733747|PMID:12920066|PMID:15458844|PMID:16439662|PMID:17173049|PMID:17999366|PMID:18414213|PMID:18615476|PMID:20385823|PMID:21378602|PMID:22670140|PMID:22892527|PMID:23472757|PMID:23495017|PMID:23533028|PMID:24033266|PMID:25188300|PMID:25356970|PMID:25621899|PMID:25724810|PMID:25741868|PMID:26045941|PMID:26185613|PMID:26467025|PMID:26544041|PMID:27118998|PMID:27554343|PMID:28135719|PMID:28371232|PMID:29719671|PMID:30763456|PMID:32581362 12194343 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:17173049|PMID:25356970|PMID:25741868|PMID:29719671|PMID:30763456 12194343 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:9005466 Language Development Disorders ISO RGD:732251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284256|PMID:17173049 12194343 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:9008086 Developmental Disabilities ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32581362 12194343 SHANK3 SH3 and multiple ankyrin repeat domains 3 gene DOID:9008165 Chromosome Deletion ISO RGD:732251 D RGD:9068941 20200609 RGD PMID:12920066|REF_RGD_ID:1599213 12194379 KNL1 kinetochore scaffold 1 gene DOID:0070291 primary autosomal recessive microcephaly 4 ISO RGD:1603976 D RGD:7240710 20180130 OMIM 12194379 KNL1 kinetochore scaffold 1 gene DOID:0070291 primary autosomal recessive microcephaly 4 ISO RGD:1603976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly 4, primary, autosomal recessive PMID:10521316|PMID:18414213|PMID:22983954|PMID:25741868|PMID:26626498|PMID:27149178|PMID:28454995|PMID:28492532 12194379 KNL1 kinetochore scaffold 1 gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:1603976 D RGD:9068941 20200609 RGD DNA:mutation:cds: c.6125 G>A,p. M2041I(human) PMID:22983954|REF_RGD_ID:9685043 12194379 KNL1 kinetochore scaffold 1 gene DOID:0080600 COVID-19 ISO RGD:1603976 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12194379 KNL1 kinetochore scaffold 1 gene DOID:10907 microcephaly ISO RGD:1603976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary Microcephaly, Recessive PMID:18414213|PMID:25741868|PMID:28492532 12194379 KNL1 kinetochore scaffold 1 gene DOID:1115 sarcoma treatment ISO RGD:1603976 D RGD:9068941 20220303 RGD PMID:31089155|REF_RGD_ID:151660332 12194379 KNL1 kinetochore scaffold 1 gene DOID:2717 Bloom syndrome ISO RGD:1603976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12194379 KNL1 kinetochore scaffold 1 gene DOID:630 genetic disease ISO RGD:1603976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28454995|PMID:28492532 12194379 KNL1 kinetochore scaffold 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1603976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12194379 KNL1 kinetochore scaffold 1 gene DOID:9256 colorectal cancer ISO RGD:1603976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12194416 PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1605707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 16 PMID:25741868 12194416 PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 gene DOID:2717 Bloom syndrome ISO RGD:1605707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12194416 PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 gene DOID:630 genetic disease ISO RGD:1605707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12194416 PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 gene DOID:9002477 Sensorineural Deafness and Male Infertility ISO RGD:1605707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness-infertility syndrome PMID:25741868 12194416 PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 gene DOID:9256 colorectal cancer ISO RGD:1605707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12194478 GAP43 growth associated protein 43 gene DOID:11832 visual epilepsy ISO RGD:62071 D RGD:9068941 20200609 RGD PMID:11054811|REF_RGD_ID:9685329 12194478 GAP43 growth associated protein 43 gene DOID:1824 status epilepticus ISO RGD:730980 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10366005 12194478 GAP43 growth associated protein 43 gene DOID:630 genetic disease ISO RGD:730980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12194478 GAP43 growth associated protein 43 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:62071 D RGD:9068941 20210122 RGD PMID:24968269|REF_RGD_ID:40924652 12194478 GAP43 growth associated protein 43 gene DOID:9002928 Colonic Neoplasms ISO RGD:730980 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12194485 AP3B2 adaptor related protein complex 3 subunit beta 2 gene DOID:0080448 developmental and epileptic encephalopathy 48 ISO RGD:1319021 D RGD:7240710 20190315 OMIM 12194485 AP3B2 adaptor related protein complex 3 subunit beta 2 gene DOID:0080448 developmental and epileptic encephalopathy 48 ISO RGD:1319021 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 48 PMID:17576681|PMID:18414213|PMID:25741868|PMID:27431290|PMID:27889060|PMID:28492532|PMID:9536098 12194485 AP3B2 adaptor related protein complex 3 subunit beta 2 gene DOID:1059 intellectual disability ISO RGD:1319021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12194485 AP3B2 adaptor related protein complex 3 subunit beta 2 gene DOID:10907 microcephaly ISO RGD:1319021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12194485 AP3B2 adaptor related protein complex 3 subunit beta 2 gene DOID:12849 autistic disorder ISO RGD:1319021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:28492532 12194485 AP3B2 adaptor related protein complex 3 subunit beta 2 gene DOID:13938 amenorrhea ISO RGD:1319021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12194485 AP3B2 adaptor related protein complex 3 subunit beta 2 gene DOID:1826 epilepsy ISO RGD:1319021 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12194485 AP3B2 adaptor related protein complex 3 subunit beta 2 gene DOID:2717 Bloom syndrome ISO RGD:1319021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12194485 AP3B2 adaptor related protein complex 3 subunit beta 2 gene DOID:630 genetic disease ISO RGD:1319021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 12194485 AP3B2 adaptor related protein complex 3 subunit beta 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1319021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:18414213|PMID:27889060 12194485 AP3B2 adaptor related protein complex 3 subunit beta 2 gene DOID:9256 colorectal cancer ISO RGD:1319021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:28492532 12194518 RIOK2 RIO kinase 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323125 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12194518 RIOK2 RIO kinase 2 gene DOID:630 genetic disease ISO RGD:1323125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12194518 RIOK2 RIO kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12194518 RIOK2 RIO kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323125 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12194536 NHERF2 NHERF family PDZ scaffold protein 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:733001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 12194536 NHERF2 NHERF family PDZ scaffold protein 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:733001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12194536 NHERF2 NHERF family PDZ scaffold protein 2 gene DOID:10763 hypertension ISO RGD:620380 D RGD:9068941 20200609 RGD PMID:15311100|REF_RGD_ID:1580741 12194536 NHERF2 NHERF family PDZ scaffold protein 2 gene DOID:10763 hypertension ISO RGD:733001 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 12194536 NHERF2 NHERF family PDZ scaffold protein 2 gene DOID:1826 epilepsy ISO RGD:733001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12194536 NHERF2 NHERF family PDZ scaffold protein 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:733001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12194536 NHERF2 NHERF family PDZ scaffold protein 2 gene DOID:630 genetic disease ISO RGD:733001 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12194552 KTN1 kinectin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12194613 PMEL premelanosome protein gene DOID:1909 melanoma ISO RGD:1316751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26640592 12194613 PMEL premelanosome protein gene DOID:630 genetic disease ISO RGD:1316751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12194646 TNFAIP8 TNF alpha induced protein 8 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314220 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12194646 TNFAIP8 TNF alpha induced protein 8 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1314220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21969086 12194646 TNFAIP8 TNF alpha induced protein 8 gene DOID:630 genetic disease ISO RGD:1314220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12194646 TNFAIP8 TNF alpha induced protein 8 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1314220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12194646 TNFAIP8 TNF alpha induced protein 8 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1314220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21969086 12194646 TNFAIP8 TNF alpha induced protein 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12194646 TNFAIP8 TNF alpha induced protein 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12194646 TNFAIP8 TNF alpha induced protein 8 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314220 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12194671 EPHA10 EPH receptor A10 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12194671 EPHA10 EPH receptor A10 gene DOID:630 genetic disease ISO RGD:1347579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12194671 EPHA10 EPH receptor A10 gene DOID:9002506 Autosomal Dominant Nonsyndromic Deafness 88 ISO RGD:1347579 D RGD:7240710 20230505 OMIM 12194685 OR5B21 olfactory receptor family 5 subfamily B member 21 gene DOID:1059 intellectual disability ISO RGD:1345076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12194685 OR5B21 olfactory receptor family 5 subfamily B member 21 gene DOID:630 genetic disease ISO RGD:1345076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12194688 NFATC1 nuclear factor of activated T cells 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1346235 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12194688 NFATC1 nuclear factor of activated T cells 1 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1346235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 12194688 NFATC1 nuclear factor of activated T cells 1 gene DOID:1059 intellectual disability ISO RGD:1346235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 12194688 NFATC1 nuclear factor of activated T cells 1 gene DOID:1657 ventricular septal defect susceptibility ISO RGD:1346235 D RGD:9068941 20230413 RGD DNA:SNPs,haplotype: :rs7240256,rs11665469,rs754505 (human) PMID:23286482|REF_RGD_ID:243065234 12194688 NFATC1 nuclear factor of activated T cells 1 gene DOID:1657 ventricular septal defect susceptibility ISO RGD:1346235 D RGD:9068941 20230420 RGD DNA:repeats: : PMID:21499900|REF_RGD_ID:268530901 12194688 NFATC1 nuclear factor of activated T cells 1 gene DOID:1682 congenital heart disease ISO RGD:1346235 D RGD:9068941 20230420 RGD DNA:polymorphism: : PMID:28829497|REF_RGD_ID:266231212 12194688 NFATC1 nuclear factor of activated T cells 1 gene DOID:1712 aortic valve stenosis severity ISO RGD:1346235 D RGD:9068941 20230420 RGD PMID:23578508|REF_RGD_ID:267010069 12194688 NFATC1 nuclear factor of activated T cells 1 gene DOID:557 kidney disease treatment ISO RGD:2319357 D RGD:9068941 20230427 RGD associated with Postoperative Complications PMID:23535151|REF_RGD_ID:7247439 12194688 NFATC1 nuclear factor of activated T cells 1 gene DOID:630 genetic disease ISO RGD:1346235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12194688 NFATC1 nuclear factor of activated T cells 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1346235 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12194688 NFATC1 nuclear factor of activated T cells 1 gene DOID:8398 osteoarthritis treatment ISO RGD:2319357 D RGD:9068941 20230427 RGD PMID:34738623|REF_RGD_ID:329328930 12194688 NFATC1 nuclear factor of activated T cells 1 gene DOID:8445 intestinal volvulus ISO RGD:1346235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12194688 NFATC1 nuclear factor of activated T cells 1 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1346235 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 12194688 NFATC1 nuclear factor of activated T cells 1 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:1557692 D RGD:9068941 20230420 RGD mRNA,protein:increased expression:liver: PMID:36092961|REF_RGD_ID:268357360 12194688 NFATC1 nuclear factor of activated T cells 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2319357 D RGD:9068941 20230427 RGD protein:increased expression:nucleus PMID:26481166|REF_RGD_ID:329337345 12194688 NFATC1 nuclear factor of activated T cells 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12194688 NFATC1 nuclear factor of activated T cells 1 gene DOID:9004914 Postmenopausal Osteoporosis treatment ISO RGD:2319357 D RGD:9068941 20230427 RGD PMID:31399090|REF_RGD_ID:329328926 12194688 NFATC1 nuclear factor of activated T cells 1 gene DOID:9005968 Neuralgia ISO RGD:2319357 D RGD:9068941 20230427 RGD PMID:23386250|REF_RGD_ID:329337338 12194688 NFATC1 nuclear factor of activated T cells 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1346235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12194688 NFATC1 nuclear factor of activated T cells 1 gene DOID:9650 pathologic nystagmus ISO RGD:1346235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:25741868 12194720 SERPINB11 serpin family B member 11 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1315147 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12194720 SERPINB11 serpin family B member 11 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1315147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 12194720 SERPINB11 serpin family B member 11 gene DOID:630 genetic disease ISO RGD:1315147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12194743 CCR6 C-C motif chemokine receptor 6 gene DOID:0050073 invasive aspergillosis disease_progression ISO RGD:1318407 D RGD:9068941 20200609 RGD PMID:17379855|REF_RGD_ID:7483617 12194743 CCR6 C-C motif chemokine receptor 6 gene DOID:0050486 exanthem ISO RGD:1318406 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:skin PMID:18384452|REF_RGD_ID:7483602 12194743 CCR6 C-C motif chemokine receptor 6 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1318406 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:skin PMID:22048239|REF_RGD_ID:7483601 12194743 CCR6 C-C motif chemokine receptor 6 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:1318407 D RGD:9068941 20200609 RGD PMID:15287366|REF_RGD_ID:7483593 12194743 CCR6 C-C motif chemokine receptor 6 gene DOID:1205 allergic disease ISO RGD:1318406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12194743 CCR6 C-C motif chemokine receptor 6 gene DOID:12306 vitiligo ISO RGD:1318406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526340 12194743 CCR6 C-C motif chemokine receptor 6 gene DOID:1564 fungal infectious disease ISO RGD:1318406 D RGD:9068941 20200609 RGD associated with Rhinosinusitis PMID:22287435|REF_RGD_ID:7483612 12194743 CCR6 C-C motif chemokine receptor 6 gene DOID:1612 breast cancer disease_progression ISO RGD:1318406 D RGD:9068941 20200609 RGD PMID:21624121|REF_RGD_ID:7483628 12194743 CCR6 C-C motif chemokine receptor 6 gene DOID:1936 atherosclerosis ISO RGD:1318407 D RGD:9068941 20200609 RGD PMID:24114205|REF_RGD_ID:7483610 12194743 CCR6 C-C motif chemokine receptor 6 gene DOID:224 transient cerebral ischemia ISO RGD:1308562 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:19428685|REF_RGD_ID:7488896 12194743 CCR6 C-C motif chemokine receptor 6 gene DOID:2841 asthma ISO RGD:1318407 D RGD:9068941 20200609 RGD protein:increased expression:lung, dendritic cell (mouse) PMID:19917684|REF_RGD_ID:8549811 12194743 CCR6 C-C motif chemokine receptor 6 gene DOID:2920 membranoproliferative glomerulonephritis treatment ISO RGD:1308562 D RGD:9068941 20200609 RGD PMID:23192593|REF_RGD_ID:7483632 12194743 CCR6 C-C motif chemokine receptor 6 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1318406 D RGD:9068941 20200609 RGD PMID:23192593|REF_RGD_ID:7483632 12194743 CCR6 C-C motif chemokine receptor 6 gene DOID:418 systemic scleroderma ISO RGD:1318406 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:21742595|REF_RGD_ID:7483587 12194743 CCR6 C-C motif chemokine receptor 6 gene DOID:552 pneumonia ISO RGD:1318406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12194743 CCR6 C-C motif chemokine receptor 6 gene DOID:630 genetic disease ISO RGD:1318406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12194743 CCR6 C-C motif chemokine receptor 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1318406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453841|PMID:20453842|PMID:23143596 12194743 CCR6 C-C motif chemokine receptor 6 gene DOID:8577 ulcerative colitis ISO RGD:1318406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16306769 12194743 CCR6 C-C motif chemokine receptor 6 gene DOID:8893 psoriasis ISO RGD:1318406 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:10843722|REF_RGD_ID:7483581 12194743 CCR6 C-C motif chemokine receptor 6 gene DOID:8893 psoriasis ISO RGD:1318407 D RGD:9068941 20200609 RGD PMID:19662682|REF_RGD_ID:7483598 12194743 CCR6 C-C motif chemokine receptor 6 gene DOID:9001472 Nasal Polyps ISO RGD:1318406 D RGD:9068941 20200609 RGD associated with Rhinosinusitis PMID:22287435|REF_RGD_ID:7483612 12194743 CCR6 C-C motif chemokine receptor 6 gene DOID:9003036 Oral Lichen Planus ISO RGD:1318406 D RGD:9068941 20200609 RGD PMID:16454813|REF_RGD_ID:7483584 12194758 DPP9 dipeptidyl peptidase 9 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1350502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23583980 12194758 DPP9 dipeptidyl peptidase 9 gene DOID:630 genetic disease ISO RGD:1350502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12194758 DPP9 dipeptidyl peptidase 9 gene DOID:9008764 Immunodeficiency 111 ISO RGD:1350502 D RGD:7240710 20230505 OMIM 12194758 DPP9 dipeptidyl peptidase 9 gene DOID:9008764 Immunodeficiency 111 ISO RGD:1350502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hatipoglu immunodeficiency syndrome PMID:36112693 12194791 ACAD10 acyl-CoA dehydrogenase family member 10 gene DOID:630 genetic disease ISO RGD:1346668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12194824 KRT85 keratin 85 gene DOID:0111658 ectodermal dysplasia 4 ISO RGD:1350889 D RGD:7240710 20180130 OMIM 12194824 KRT85 keratin 85 gene DOID:0111658 ectodermal dysplasia 4 ISO RGD:1350889 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 4, hair/nail type PMID:16525032|PMID:19865094|PMID:24033266|PMID:25741868|PMID:28492532 12194824 KRT85 keratin 85 gene DOID:630 genetic disease ISO RGD:1350889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12194837 LPCAT1 lysophosphatidylcholine acyltransferase 1 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1602676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 12194837 LPCAT1 lysophosphatidylcholine acyltransferase 1 gene DOID:630 genetic disease ISO RGD:1602676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12194837 LPCAT1 lysophosphatidylcholine acyltransferase 1 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1602676 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 12194917 RUNDC1 RUN domain containing 1 gene DOID:10283 prostate cancer ISO RGD:1316714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12194917 RUNDC1 RUN domain containing 1 gene DOID:630 genetic disease ISO RGD:1316714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12194926 TAF1 TATA-box binding protein associated factor 1 gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:1349671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532 12194926 TAF1 TATA-box binding protein associated factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1349671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12194926 TAF1 TATA-box binding protein associated factor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12194926 TAF1 TATA-box binding protein associated factor 1 gene DOID:0090057 X-linked dystonia-parkinsonism ISO RGD:1349671 D RGD:7240710 20180130 OMIM 12194926 TAF1 TATA-box binding protein associated factor 1 gene DOID:0090057 X-linked dystonia-parkinsonism ISO RGD:1349671 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: X-linked dystonia-parkinsonism PMID:17273961|PMID:25741868|PMID:28492532 12194926 TAF1 TATA-box binding protein associated factor 1 gene DOID:1059 intellectual disability ISO RGD:1349671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12194926 TAF1 TATA-box binding protein associated factor 1 gene DOID:12849 autistic disorder ISO RGD:1349671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12194926 TAF1 TATA-box binding protein associated factor 1 gene DOID:1682 congenital heart disease ISO RGD:1349671 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:26637982|PMID:28492532|PMID:32396742|PMID:33098347 12194926 TAF1 TATA-box binding protein associated factor 1 gene DOID:630 genetic disease ISO RGD:1349671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12194926 TAF1 TATA-box binding protein associated factor 1 gene DOID:9006249 RADIO-TARTAGLIA SYNDROME ISO RGD:1349671 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Radio-Tartaglia syndrome PMID:25741868|PMID:32396742 12194926 TAF1 TATA-box binding protein associated factor 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1349671 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:26637982 12194926 TAF1 TATA-box binding protein associated factor 1 gene DOID:9007042 Syndromic X-Linked Mental Retardation 33 ISO RGD:1349671 D RGD:7240710 20190315 OMIM 12194926 TAF1 TATA-box binding protein associated factor 1 gene DOID:9007042 Syndromic X-Linked Mental Retardation 33 ISO RGD:1349671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33 | ClinVar Annotator: match by term: TAF1-related syndromic intellectual disability PMID:17576681|PMID:25741868|PMID:26637982|PMID:28492532|PMID:29302074|PMID:31646703|PMID:31985533|PMID:32396742|PMID:33098347|PMID:9536098 12194926 TAF1 TATA-box binding protein associated factor 1 gene DOID:9007898 FG Syndrome 1 ISO RGD:1349671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 12194980 HES6 hes family bHLH transcription factor 6 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1323828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12194980 HES6 hes family bHLH transcription factor 6 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1323828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12194980 HES6 hes family bHLH transcription factor 6 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1323828 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12194980 HES6 hes family bHLH transcription factor 6 gene DOID:1059 intellectual disability ISO RGD:1323828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12194980 HES6 hes family bHLH transcription factor 6 gene DOID:630 genetic disease ISO RGD:1323828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12194980 HES6 hes family bHLH transcription factor 6 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1323828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12194986 FCN2 ficolin 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1351597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12194986 FCN2 ficolin 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1351597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12194986 FCN2 ficolin 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1351597 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12194986 FCN2 ficolin 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1351597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12194986 FCN2 ficolin 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1351597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12194986 FCN2 ficolin 2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1351597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12194986 FCN2 ficolin 2 gene DOID:3652 Leigh disease ISO RGD:1351597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12194986 FCN2 ficolin 2 gene DOID:630 genetic disease ISO RGD:1351597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12194986 FCN2 ficolin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351597 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12194986 FCN2 ficolin 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1351597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:28492532|PMID:29907982 12194986 FCN2 ficolin 2 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:1351597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 12195001 BORCS8 BLOC-1 related complex subunit 8 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:5131351 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 12195001 BORCS8 BLOC-1 related complex subunit 8 gene DOID:630 genetic disease ISO RGD:5131351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195001 BORCS8 BLOC-1 related complex subunit 8 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:5131351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12195015 SNAPC5 small nuclear RNA activating complex polypeptide 5 gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:1313202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome 12195015 SNAPC5 small nuclear RNA activating complex polypeptide 5 gene DOID:0080690 RASopathy ISO RGD:1313202 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: RASopathy PMID:24033266|PMID:25741868|PMID:28492532 12195015 SNAPC5 small nuclear RNA activating complex polypeptide 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1313202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12195015 SNAPC5 small nuclear RNA activating complex polypeptide 5 gene DOID:1909 melanoma ISO RGD:1313202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma PMID:22197931 12195015 SNAPC5 small nuclear RNA activating complex polypeptide 5 gene DOID:2717 Bloom syndrome ISO RGD:1313202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12195015 SNAPC5 small nuclear RNA activating complex polypeptide 5 gene DOID:2843 long QT syndrome ISO RGD:1313202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12195015 SNAPC5 small nuclear RNA activating complex polypeptide 5 gene DOID:3490 Noonan syndrome ISO RGD:1313202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 12195015 SNAPC5 small nuclear RNA activating complex polypeptide 5 gene DOID:630 genetic disease ISO RGD:1313202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12195015 SNAPC5 small nuclear RNA activating complex polypeptide 5 gene DOID:9256 colorectal cancer ISO RGD:1313202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12195027 TMEM179B transmembrane protein 179B gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1601691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12195027 TMEM179B transmembrane protein 179B gene DOID:1059 intellectual disability ISO RGD:1601691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12195027 TMEM179B transmembrane protein 179B gene DOID:630 genetic disease ISO RGD:1601691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195036 FGF22 fibroblast growth factor 22 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:733776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 12195036 FGF22 fibroblast growth factor 22 gene DOID:5339 cyclic hematopoiesis ISO RGD:733776 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12195036 FGF22 fibroblast growth factor 22 gene DOID:630 genetic disease ISO RGD:733776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195051 LYPD6B LY6/PLAUR domain containing 6B gene DOID:630 genetic disease ISO RGD:1602653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195082 CDK1 cyclin dependent kinase 1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:731889 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19223503 12195082 CDK1 cyclin dependent kinase 1 gene DOID:0080600 COVID-19 ISO RGD:731889 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12195082 CDK1 cyclin dependent kinase 1 gene DOID:11054 urinary bladder cancer ISO RGD:731889 D RGD:9068941 20200609 RGD PMID:17145867|REF_RGD_ID:2715645 12195082 CDK1 cyclin dependent kinase 1 gene DOID:1612 breast cancer disease_progression ISO RGD:731889 D RGD:9068941 20200609 RGD PMID:17956886|REF_RGD_ID:2708463 12195082 CDK1 cyclin dependent kinase 1 gene DOID:1612 breast cancer susceptibility ISO RGD:731889 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs16941635 (human) PMID:19377877|REF_RGD_ID:2683526 12195082 CDK1 cyclin dependent kinase 1 gene DOID:2671 transitional cell carcinoma severity ISO RGD:731889 D RGD:9068941 20200609 RGD PMID:18245534|REF_RGD_ID:2701900 12195082 CDK1 cyclin dependent kinase 1 gene DOID:3500 gallbladder adenocarcinoma ISO RGD:731889 D RGD:9068941 20200609 RGD protein:increased expression:gallbladder PMID:15017593|REF_RGD_ID:2722465 12195082 CDK1 cyclin dependent kinase 1 gene DOID:4362 cervical cancer ISO RGD:731889 D RGD:9068941 20200609 RGD PMID:18299147|REF_RGD_ID:2296067 12195082 CDK1 cyclin dependent kinase 1 gene DOID:630 genetic disease ISO RGD:731889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195082 CDK1 cyclin dependent kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:731889 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12195082 CDK1 cyclin dependent kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:731889 D RGD:9068941 20220818 RGD protein:increased expression:liver (human) PMID:19136513|REF_RGD_ID:2316317 12195082 CDK1 cyclin dependent kinase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2319 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord dura mater (rat) PMID:19672039|REF_RGD_ID:2316488 12195082 CDK1 cyclin dependent kinase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731889 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12195082 CDK1 cyclin dependent kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731889 D RGD:9068941 20200609 RGD PMID:17460776|REF_RGD_ID:2756028 12195082 CDK1 cyclin dependent kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731890 D RGD:9068941 20200609 RGD PMID:17575168|REF_RGD_ID:2711357 12195082 CDK1 cyclin dependent kinase 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:2319 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:thyroid gland (rat) PMID:19298605|REF_RGD_ID:2314685 12195106 WDR33 WD repeat domain 33 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1319455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 12195106 WDR33 WD repeat domain 33 gene DOID:630 genetic disease ISO RGD:1319455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195142 ZC3HAV1 zinc finger CCCH-type containing, antiviral 1 gene DOID:0080690 RASopathy ISO RGD:736106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12195142 ZC3HAV1 zinc finger CCCH-type containing, antiviral 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12195142 ZC3HAV1 zinc finger CCCH-type containing, antiviral 1 gene DOID:630 genetic disease ISO RGD:736106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195159 INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 gene DOID:0050941 spastic ataxia 2 ISO RGD:1604452 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 12195159 INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:1604452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 12195159 INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1604452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195176 MIR30C-1 microRNA mir-30c-1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1351898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12195176 MIR30C-1 microRNA mir-30c-1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1351898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20889907 12195176 MIR30C-1 microRNA mir-30c-1 gene DOID:5082 liver cirrhosis ISO RGD:1607659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12195176 MIR30C-1 microRNA mir-30c-1 gene DOID:5844 myocardial infarction ISO RGD:1351898 D RGD:9068941 20220407 CTD CTD Direct Evidence: therapeutic PMID:34217758 12195176 MIR30C-1 microRNA mir-30c-1 gene DOID:9005372 Inflammation ISO RGD:1351898 D RGD:9068941 20220407 CTD CTD Direct Evidence: therapeutic PMID:34217758 12195176 MIR30C-1 microRNA mir-30c-1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1607659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12195176 MIR30C-1 microRNA mir-30c-1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1351898 D RGD:9068941 20220407 CTD CTD Direct Evidence: therapeutic PMID:34217758 12195206 MINDY4B MINDY family member 4B gene DOID:0050579 glycogen storage disease XV ISO RGD:2306135 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12195254 MYH8 myosin heavy chain 8 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:1345305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 12195254 MYH8 myosin heavy chain 8 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1345305 D RGD:9068941 20200609 RGD Carney complex variant, OMIM:608837, DNA:point mutation:exon:R674Q PMID:15282353|REF_RGD_ID:1600548 12195254 MYH8 myosin heavy chain 8 gene DOID:0111596 distal arthrogryposis type 1 ISO RGD:1345305 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I PMID:25741868 12195254 MYH8 myosin heavy chain 8 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1345305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:25741868 12195254 MYH8 myosin heavy chain 8 gene DOID:0111603 distal arthrogryposis type 7 ISO RGD:1345305 D RGD:7240710 20180130 OMIM 12195254 MYH8 myosin heavy chain 8 gene DOID:0111603 distal arthrogryposis type 7 ISO RGD:1345305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dutch-Kentucky syndrome | ClinVar Annotator: match by term: Hecht syndrome PMID:12800911|PMID:15282353|PMID:15590965|PMID:1600999|PMID:17041932|PMID:18049072|PMID:18414213|PMID:20949528|PMID:25305228|PMID:25741868|PMID:28492532|PMID:4443857|PMID:4837286 12195254 MYH8 myosin heavy chain 8 gene DOID:10283 prostate cancer ISO RGD:1345305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12195254 MYH8 myosin heavy chain 8 gene DOID:14566 disease of cellular proliferation ISO RGD:1345305 D RGD:9068941 20200609 RGD Carney complex variant, OMIM:608837, DNA:point mutation:exon:R674Q PMID:15282353|REF_RGD_ID:1600548 12195254 MYH8 myosin heavy chain 8 gene DOID:630 genetic disease ISO RGD:1345305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12195254 MYH8 myosin heavy chain 8 gene DOID:9000219 Carney Complex Variant ISO RGD:1345305 D RGD:7240710 20180130 OMIM 12195254 MYH8 myosin heavy chain 8 gene DOID:9000219 Carney Complex Variant ISO RGD:1345305 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carney complex variant PMID:12800911|PMID:15282353|PMID:15590965|PMID:1600999|PMID:17041932|PMID:18049072|PMID:20949528|PMID:25741868|PMID:28492532|PMID:4443857|PMID:4837286 12195254 MYH8 myosin heavy chain 8 gene DOID:9007661 Dwarfism ISO RGD:1345305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12195254 MYH8 myosin heavy chain 8 gene DOID:9884 muscular dystrophy ISO RGD:1345305 D RGD:9068941 20200609 RGD protein:increased expression:muscle: PMID:3513005|REF_RGD_ID:12914761 12195301 AKAP13 A-kinase anchoring protein 13 gene DOID:2717 Bloom syndrome ISO RGD:736118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12195301 AKAP13 A-kinase anchoring protein 13 gene DOID:4450 renal cell carcinoma ISO RGD:736118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 12195301 AKAP13 A-kinase anchoring protein 13 gene DOID:630 genetic disease ISO RGD:736118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195301 AKAP13 A-kinase anchoring protein 13 gene DOID:9000117 Esophageal Neoplasms ISO RGD:736118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17068819 12195301 AKAP13 A-kinase anchoring protein 13 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28319090 12195301 AKAP13 A-kinase anchoring protein 13 gene DOID:9256 colorectal cancer ISO RGD:736118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12195360 MSS51 MSS51 mitochondrial translational activator gene DOID:630 genetic disease ISO RGD:1319740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195371 SLC35E1 solute carrier family 35 member E1 gene DOID:630 genetic disease ISO RGD:1319908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195382 PI15 peptidase inhibitor 15 gene DOID:630 genetic disease ISO RGD:1319988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195403 TOR4A torsin family 4 member A gene DOID:0050777 Joubert syndrome ISO RGD:1606545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12195403 TOR4A torsin family 4 member A gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1606545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12195403 TOR4A torsin family 4 member A gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1606545 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12195403 TOR4A torsin family 4 member A gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12195403 TOR4A torsin family 4 member A gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1606545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:19264732|PMID:27891178|PMID:28492532 12195403 TOR4A torsin family 4 member A gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1606545 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12195403 TOR4A torsin family 4 member A gene DOID:0081097 Rafiq syndrome ISO RGD:1606545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12195403 TOR4A torsin family 4 member A gene DOID:1826 epilepsy ISO RGD:1606545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12195403 TOR4A torsin family 4 member A gene DOID:630 genetic disease ISO RGD:1606545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195403 TOR4A torsin family 4 member A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12195403 TOR4A torsin family 4 member A gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1606545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12195425 ENTREP2 endosomal transmembrane epsin interactor 2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:2311472 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 12195425 ENTREP2 endosomal transmembrane epsin interactor 2 gene DOID:1059 intellectual disability ISO RGD:2311472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12195425 ENTREP2 endosomal transmembrane epsin interactor 2 gene DOID:12849 autistic disorder ISO RGD:2311472 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 12195425 ENTREP2 endosomal transmembrane epsin interactor 2 gene DOID:1932 Angelman syndrome ISO RGD:2311472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome 12195425 ENTREP2 endosomal transmembrane epsin interactor 2 gene DOID:5419 schizophrenia ISO RGD:2311472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12195425 ENTREP2 endosomal transmembrane epsin interactor 2 gene DOID:630 genetic disease ISO RGD:2311472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12195425 ENTREP2 endosomal transmembrane epsin interactor 2 gene DOID:9001610 Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome ISO RGD:2311472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung disease, immunodeficiency, and chromosome breakage syndrome PMID:20864041|PMID:25741868|PMID:27427983|PMID:28492532 12195445 BBS12 Bardet-Biedl syndrome 12 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1603548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:20498079|PMID:22025579|PMID:22773737|PMID:25741868|PMID:25780760|PMID:28492532|PMID:31196119 12195445 BBS12 Bardet-Biedl syndrome 12 gene DOID:0110134 Bardet-Biedl syndrome 12 ISO RGD:1603548 D RGD:7240710 20180130 OMIM 12195445 BBS12 Bardet-Biedl syndrome 12 gene DOID:0110134 Bardet-Biedl syndrome 12 ISO RGD:1603548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 12 PMID:17160889|PMID:20080638|PMID:20120035|PMID:20142850|PMID:20472660|PMID:20498079|PMID:20648243|PMID:20827784|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21463199|PMID:21642631|PMID:22025579|PMID:22410627|PMID:22773737|PMID:23591405|PMID:24611592|PMID:25133751|PMID:25170860|PMID:25741868|PMID:25780760|PMID:25982971|PMID:26489029|PMID:27004616|PMID:27659767|PMID:27708425|PMID:28224992|PMID:28492532|PMID:28912962|PMID:30614526|PMID:30718709|PMID:31196119|PMID:32531858|PMID:33046855|PMID:33532864 12195445 BBS12 Bardet-Biedl syndrome 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1603548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17160889|PMID:20120035|PMID:20498079|PMID:25741868|PMID:28492532|PMID:30718709 12195445 BBS12 Bardet-Biedl syndrome 12 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:17160889|PMID:20080638|PMID:20120035|PMID:20142850|PMID:20472660|PMID:20498079|PMID:20648243|PMID:20827784|PMID:21209035|PMID:21344540|PMID:21463199|PMID:21642631|PMID:22025579|PMID:22410627|PMID:22773737|PMID:23591405|PMID:24611592|PMID:25133751|PMID:25170860|PMID:25741868|PMID:25780760|PMID:25982971|PMID:26489029|PMID:27004616|PMID:27659767|PMID:27708425|PMID:28224992|PMID:28492532|PMID:28912962|PMID:30614526|PMID:30718709|PMID:31196119|PMID:31888296|PMID:32531858|PMID:33046855|PMID:33964006 12195445 BBS12 Bardet-Biedl syndrome 12 gene DOID:630 genetic disease ISO RGD:1603548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20472660|PMID:25133751|PMID:25741868|PMID:28492532|PMID:33046855 12195445 BBS12 Bardet-Biedl syndrome 12 gene DOID:8501 fundus dystrophy ISO RGD:1603548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17160889|PMID:20080638|PMID:20120035|PMID:20472660|PMID:20498079|PMID:20827784|PMID:21209035|PMID:21463199|PMID:21642631|PMID:22410627|PMID:24611592|PMID:25741868|PMID:25982971|PMID:26489029|PMID:27659767|PMID:28492532|PMID:30614526|PMID:30718709|PMID:32531858|PMID:33046855 12195445 BBS12 Bardet-Biedl syndrome 12 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1603548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 PMID:17160889|PMID:23591405|PMID:25741868|PMID:28492532|PMID:30614526 12195445 BBS12 Bardet-Biedl syndrome 12 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1603548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:26299366|PMID:28492532 12195445 BBS12 Bardet-Biedl syndrome 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12195445 BBS12 Bardet-Biedl syndrome 12 gene DOID:9006534 Nervous System Malformations ISO RGD:1603548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:17160889|PMID:23591405|PMID:25741868|PMID:28492532 12195458 CRISP1 cysteine rich secretory protein 1 gene DOID:630 genetic disease ISO RGD:1603324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195484 DNAL4 dynein axonemal light chain 4 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1319248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12195484 DNAL4 dynein axonemal light chain 4 gene DOID:630 genetic disease ISO RGD:1319248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195484 DNAL4 dynein axonemal light chain 4 gene DOID:9008815 Mirror Movements 3 ISO RGD:1319248 D RGD:7240710 20180130 OMIM 12195484 DNAL4 dynein axonemal light chain 4 gene DOID:9008815 Mirror Movements 3 ISO RGD:1319248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mirror movements 3 PMID:25098561 12195496 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:0111590 Cohen syndrome ISO RGD:1605385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12195496 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:10534 stomach cancer exacerbates ISO RGD:1605385 D RGD:9068941 20220317 RGD mRNA:increased expression:stomach (human) PMID:32934672|REF_RGD_ID:151665189 12195496 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:1612 breast cancer exacerbates ISO RGD:1605385 D RGD:9068941 20220317 RGD human gene in a mouse cell line and mouse model PMID:28330927|REF_RGD_ID:151665194 12195496 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:219 colon cancer exacerbates ISO RGD:1605385 D RGD:9068941 20220317 RGD mRNA:increased expression:colon (human) PMID:29441938|REF_RGD_ID:151665201 12195496 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:1605385 D RGD:9068941 20220317 RGD human cell line in a mouse model PMID:29296225|REF_RGD_ID:151665195 12195496 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:234 colon adenocarcinoma severity ISO RGD:1605385 D RGD:9068941 20220317 RGD human cell line in a mouse model PMID:28856538|REF_RGD_ID:151665199 12195496 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:2600 laryngeal carcinoma exacerbates ISO RGD:1605385 D RGD:9068941 20220317 RGD mRNA, protein:increased expression:larynx (human) PMID:32468011|REF_RGD_ID:151665191 12195496 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:2843 long QT syndrome ISO RGD:1605385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12195496 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:3008 invasive ductal carcinoma ISO RGD:1605385 D RGD:9068941 20200609 RGD DNA:mutation:CDS:multiple nonsynonymous mutations PMID:14871824|REF_RGD_ID:2306813 12195496 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:3717 gastric adenocarcinoma ameliorates ISO RGD:1605385 D RGD:9068941 20220317 RGD human cell line in a mouse model PMID:27590582|REF_RGD_ID:151665193 12195496 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1605385 D RGD:9068941 20220317 RGD circRNA:decreased expression:lung (human) PMID:29944885|REF_RGD_ID:151665198 12195496 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1605385 D RGD:9068941 20220317 RGD human cell line in a mouse model PMID:32867711|REF_RGD_ID:151665200 12195496 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:4948 gallbladder carcinoma ameliorates ISO RGD:1605385 D RGD:9068941 20220317 RGD human cell line in a mouse model PMID:30775814|REF_RGD_ID:151665192 12195496 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:630 genetic disease ISO RGD:1605385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195496 UBR5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1552737 D RGD:9068941 20220324 RGD PMID:32087767|REF_RGD_ID:151665344 12195566 RNF170 ring finger protein 170 gene DOID:0050951 hereditary ataxia ISO RGD:1615793 D RGD:9068941 20220825 MouseDO 12195566 RNF170 ring finger protein 170 gene DOID:0090039 torsion dystonia 6 ISO RGD:1352237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 12195566 RNF170 ring finger protein 170 gene DOID:0111170 autosomal dominant sensory ataxia 1 ISO RGD:1352237 D RGD:7240710 20180418 OMIM 12195566 RNF170 ring finger protein 170 gene DOID:0111170 autosomal dominant sensory ataxia 1 ISO RGD:1352237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant sensory ataxia 1 PMID:17190954|PMID:18414213|PMID:21115467|PMID:25741868|PMID:25882839|PMID:28492532|PMID:31589614|PMID:31636353|PMID:32943585|PMID:34420199 12195566 RNF170 ring finger protein 170 gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:1352237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 PMID:28492532 12195566 RNF170 ring finger protein 170 gene DOID:0111959 immunodeficiency 15B ISO RGD:1352237 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 12195566 RNF170 ring finger protein 170 gene DOID:0112345 hereditary spastic paraplegia 85 ISO RGD:1352237 D RGD:7240710 20220112 OMIM 12195566 RNF170 ring finger protein 170 gene DOID:0112345 hereditary spastic paraplegia 85 ISO RGD:1352237 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 85, autosomal recessive PMID:25741868|PMID:31636353|PMID:35041108 12195566 RNF170 ring finger protein 170 gene DOID:607 paraplegia ISO RGD:1352237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:31636353 12195566 RNF170 ring finger protein 170 gene DOID:630 genetic disease ISO RGD:1352237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195566 RNF170 ring finger protein 170 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12195566 RNF170 ring finger protein 170 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:1352237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 12195566 RNF170 ring finger protein 170 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1352237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 12195584 LSM1 LSM1 homolog, mRNA degradation associated gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1312715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 12195584 LSM1 LSM1 homolog, mRNA degradation associated gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1312715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 12195584 LSM1 LSM1 homolog, mRNA degradation associated gene DOID:11383 cryptorchidism ISO RGD:1312715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptorchidism PMID:25741868|PMID:31010896 12195584 LSM1 LSM1 homolog, mRNA degradation associated gene DOID:607 paraplegia ISO RGD:1312715 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12195584 LSM1 LSM1 homolog, mRNA degradation associated gene DOID:630 genetic disease ISO RGD:1312715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195584 LSM1 LSM1 homolog, mRNA degradation associated gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1312715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868|PMID:31010896 12195584 LSM1 LSM1 homolog, mRNA degradation associated gene DOID:9008086 Developmental Disabilities ISO RGD:1312715 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:31010896 12195592 SAE1 SUMO1 activating enzyme subunit 1 gene DOID:630 genetic disease ISO RGD:1604646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195612 EBPL EBP like gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1312086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12195612 EBPL EBP like gene DOID:1059 intellectual disability ISO RGD:1312086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12195612 EBPL EBP like gene DOID:630 genetic disease ISO RGD:1312086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195620 DNAJC8 DnaJ heat shock protein family (Hsp40) member C8 gene DOID:630 genetic disease ISO RGD:1314401 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195640 RANBP17 RAN binding protein 17 gene DOID:0060041 autism spectrum disorder ISO RGD:1345238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder 12195640 RANBP17 RAN binding protein 17 gene DOID:10908 hydrocephalus ISO RGD:1345238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 12195640 RANBP17 RAN binding protein 17 gene DOID:630 genetic disease ISO RGD:1345238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195685 RASAL2 RAS protein activator like 2 gene DOID:10283 prostate cancer ISO RGD:1316836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12195685 RASAL2 RAS protein activator like 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1316836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12195685 RASAL2 RAS protein activator like 2 gene DOID:630 genetic disease ISO RGD:1316836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195685 RASAL2 RAS protein activator like 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1316836 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34826200 12195685 RASAL2 RAS protein activator like 2 gene DOID:9000918 Disease Progression ISO RGD:1316836 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34826200 12195685 RASAL2 RAS protein activator like 2 gene DOID:9002170 Experimental Neoplasms ISO RGD:1316836 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34826200 12195685 RASAL2 RAS protein activator like 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316836 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34826200 12195685 RASAL2 RAS protein activator like 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1316836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12195685 RASAL2 RAS protein activator like 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12195739 EFCAB5 EF-hand calcium binding domain 5 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1606096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 12195739 EFCAB5 EF-hand calcium binding domain 5 gene DOID:630 genetic disease ISO RGD:1606096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195783 RAP2C RAP2C, member of RAS oncogene family gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12195783 RAP2C RAP2C, member of RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:1353605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12195805 PTPRH protein tyrosine phosphatase receptor type H gene DOID:0110936 nemaline myopathy 5 ISO RGD:1345629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5 PMID:28492532 12195805 PTPRH protein tyrosine phosphatase receptor type H gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1345629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12195805 PTPRH protein tyrosine phosphatase receptor type H gene DOID:630 genetic disease ISO RGD:1345629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195827 RHBDD1 rhomboid domain containing 1 gene DOID:1793 pancreatic cancer ISO RGD:1601951 D RGD:9068941 20230309 CTD CTD Direct Evidence: therapeutic PMID:35442567 12195827 RHBDD1 rhomboid domain containing 1 gene DOID:630 genetic disease ISO RGD:1601951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195868 PDZD7 PDZ domain containing 7 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1320465 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB PMID:25741868|PMID:28492532|PMID:31253780 12195868 PDZD7 PDZ domain containing 7 gene DOID:0110838 Usher syndrome type 2A ISO RGD:1320465 D RGD:7240710 20180130 OMIM 12195868 PDZD7 PDZ domain containing 7 gene DOID:0110838 Usher syndrome type 2A ISO RGD:1320465 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A PMID:20440071|PMID:24033266|PMID:25741868|PMID:26849169|PMID:28492532|PMID:29048736 12195868 PDZD7 PDZ domain containing 7 gene DOID:0110839 Usher syndrome type 2C ISO RGD:1320465 D RGD:7240710 20180130 OMIM 12195868 PDZD7 PDZ domain containing 7 gene DOID:0110839 Usher syndrome type 2C ISO RGD:1320465 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic PMID:20440071|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26849169|PMID:28492532|PMID:32050993 12195868 PDZD7 PDZ domain containing 7 gene DOID:0111635 autosomal recessive nonsyndromic deafness 57 ISO RGD:1320465 D RGD:7240710 20190315 OMIM 12195868 PDZD7 PDZ domain containing 7 gene DOID:0111635 autosomal recessive nonsyndromic deafness 57 ISO RGD:1320465 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 57 PMID:16199547|PMID:20440071|PMID:24033266|PMID:25741868|PMID:26416264|PMID:26849169|PMID:28492532|PMID:28802369|PMID:29048736|PMID:30622556|PMID:31454969|PMID:31827275|PMID:32048449|PMID:33724713|PMID:35802133|PMID:36633841 12195868 PDZD7 PDZ domain containing 7 gene DOID:630 genetic disease ISO RGD:1320465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20440071|PMID:24033266|PMID:25741868|PMID:28492532 12195868 PDZD7 PDZ domain containing 7 gene DOID:9001128 Usher Syndrome, Type 2B ISO RGD:1320465 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 2B PMID:20440071|PMID:24033266|PMID:25741868|PMID:26849169|PMID:28492532 12195868 PDZD7 PDZ domain containing 7 gene DOID:9004538 Hearing Loss ISO RGD:1320465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:17576681|PMID:28492532|PMID:30311386|PMID:9536098 12195904 IRX2 iroquois homeobox 2 gene DOID:630 genetic disease ISO RGD:1346652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195904 IRX2 iroquois homeobox 2 gene DOID:850 lung disease ISO RGD:1346652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21238641 12195913 ECE2 endothelin converting enzyme 2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1349338 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12195913 ECE2 endothelin converting enzyme 2 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1349338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12195913 ECE2 endothelin converting enzyme 2 gene DOID:0111546 Currarino syndrome ISO RGD:1349338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12195913 ECE2 endothelin converting enzyme 2 gene DOID:630 genetic disease ISO RGD:1349338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195953 H2AC2 H2A clustered histone 2 gene DOID:9538 multiple myeloma ISO RGD:1323073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12195958 LOC489748 dipeptidase 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1313538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12195958 LOC489748 dipeptidase 3 gene DOID:630 genetic disease ISO RGD:1313538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195972 DOC2A double C2 domain alpha gene DOID:0060019 coronin-1A deficiency ISO RGD:731423 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12195972 DOC2A double C2 domain alpha gene DOID:0060041 autism spectrum disorder ISO RGD:731423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12195972 DOC2A double C2 domain alpha gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:731423 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12195972 DOC2A double C2 domain alpha gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:731423 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12195972 DOC2A double C2 domain alpha gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:731423 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12195972 DOC2A double C2 domain alpha gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:731423 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12195972 DOC2A double C2 domain alpha gene DOID:12849 autistic disorder ISO RGD:731423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12195972 DOC2A double C2 domain alpha gene DOID:1882 atrial heart septal defect ISO RGD:731423 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12195972 DOC2A double C2 domain alpha gene DOID:5419 schizophrenia ISO RGD:731423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12195972 DOC2A double C2 domain alpha gene DOID:630 genetic disease ISO RGD:731423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12195972 DOC2A double C2 domain alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12195972 DOC2A double C2 domain alpha gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:731423 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12195972 DOC2A double C2 domain alpha gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:731423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12195990 ADGRL2 adhesion G protein-coupled receptor L2 gene DOID:10907 microcephaly ISO RGD:1331928 D RGD:9068941 20200609 RGD PMID:30340542|REF_RGD_ID:13838661 12195990 ADGRL2 adhesion G protein-coupled receptor L2 gene DOID:630 genetic disease ISO RGD:732054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12196077 ARHGAP5 Rho GTPase activating protein 5 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1318315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 12196077 ARHGAP5 Rho GTPase activating protein 5 gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1318315 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:25741868 12196077 ARHGAP5 Rho GTPase activating protein 5 gene DOID:630 genetic disease ISO RGD:1318315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12196077 ARHGAP5 Rho GTPase activating protein 5 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1318315 D RGD:9068941 20210430 RGD associated with nasopharynx carcinoma;mRNA, protein:increased expression: epithelium of nasopharynx PMID:25961434|REF_RGD_ID:11056278 12196077 ARHGAP5 Rho GTPase activating protein 5 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1318315 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12196077 ARHGAP5 Rho GTPase activating protein 5 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1308507 D RGD:9068941 20210430 RGD mRNA:increased expression:mammary gland PMID:10939588|REF_RGD_ID:2316183 12196077 ARHGAP5 Rho GTPase activating protein 5 gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:1318316 D RGD:9068941 20210430 RGD PMID:19703301|REF_RGD_ID:126848766 12196077 ARHGAP5 Rho GTPase activating protein 5 gene DOID:9007098 Pulmonary Atresia ISO RGD:1318315 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 12196077 ARHGAP5 Rho GTPase activating protein 5 gene DOID:9009121 lung metastasis ISO RGD:1318316 D RGD:9068941 20210430 RGD associated with Mammary Neoplasms, Experimental PMID:20860838|REF_RGD_ID:126848767 12196095 ODAD4 outer dynein arm docking complex subunit 4 gene DOID:0050545 visceral heterotaxy ISO RGD:1606214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Situs ambiguus 12196095 ODAD4 outer dynein arm docking complex subunit 4 gene DOID:0110620 primary ciliary dyskinesia 35 ISO RGD:1606214 D RGD:7240710 20190315 OMIM 12196095 ODAD4 outer dynein arm docking complex subunit 4 gene DOID:0110620 primary ciliary dyskinesia 35 ISO RGD:1606214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 35 PMID:25741868|PMID:27486780 12196095 ODAD4 outer dynein arm docking complex subunit 4 gene DOID:630 genetic disease ISO RGD:1606214 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12196095 ODAD4 outer dynein arm docking complex subunit 4 gene DOID:758 situs inversus ISO RGD:1606214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 12196112 CENPI centromere protein I gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12196112 CENPI centromere protein I gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:733555 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 12196112 CENPI centromere protein I gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:733555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 12196112 CENPI centromere protein I gene DOID:12849 autistic disorder ISO RGD:733555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12196112 CENPI centromere protein I gene DOID:5426 primary ovarian insufficiency ISO RGD:733555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12196112 CENPI centromere protein I gene DOID:630 genetic disease ISO RGD:733555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12196112 CENPI centromere protein I gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:733555 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 12196137 XYLT2 xylosyltransferase 2 gene DOID:0080322 polycystic kidney disease ISO RGD:731565 D RGD:9068941 20220825 MouseDO 12196137 XYLT2 xylosyltransferase 2 gene DOID:12347 osteogenesis imperfecta ISO RGD:731564 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:16571645|PMID:25741868|PMID:28492532 12196137 XYLT2 xylosyltransferase 2 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:731564 D RGD:7240710 20180130 OMIM 12196137 XYLT2 xylosyltransferase 2 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:731564 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, modifier of severity of PMID:16571645|PMID:25741868|PMID:28492532 12196137 XYLT2 xylosyltransferase 2 gene DOID:630 genetic disease ISO RGD:731564 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26027496|PMID:26987875|PMID:28492532 12196137 XYLT2 xylosyltransferase 2 gene DOID:9005347 Spondyloocular Syndrome, Autosomal Recessive ISO RGD:731564 D RGD:7240710 20221109 OMIM 12196137 XYLT2 xylosyltransferase 2 gene DOID:9005347 Spondyloocular Syndrome, Autosomal Recessive ISO RGD:731564 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondyloocular syndrome, autosomal recessive PMID:16571645|PMID:25741868|PMID:26027496|PMID:28492532|PMID:30496831 12196150 PER3 period circadian regulator 3 gene DOID:0050628 advanced sleep phase syndrome ISO RGD:1352533 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:11306557|REF_RGD_ID:1358557 12196150 PER3 period circadian regulator 3 gene DOID:0060001 withdrawal disorder ISO RGD:1352533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20738730 12196150 PER3 period circadian regulator 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1352533 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12196150 PER3 period circadian regulator 3 gene DOID:0080600 COVID-19 ISO RGD:1352533 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12196150 PER3 period circadian regulator 3 gene DOID:0110011 advanced sleep phase syndrome 1 ISO RGD:1352533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12196150 PER3 period circadian regulator 3 gene DOID:0110013 advanced sleep phase syndrome 3 ISO RGD:1352533 D RGD:7240710 20190315 OMIM 12196150 PER3 period circadian regulator 3 gene DOID:0110013 advanced sleep phase syndrome 3 ISO RGD:1352533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Advanced sleep phase syndrome 3 PMID:25741868|PMID:26903630 12196150 PER3 period circadian regulator 3 gene DOID:630 genetic disease ISO RGD:1352533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12196150 PER3 period circadian regulator 3 gene DOID:8552 chronic myeloid leukemia ISO RGD:1352533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16999817 12196150 PER3 period circadian regulator 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12196150 PER3 period circadian regulator 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1352533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20625127 12196204 KANSL2 KAT8 regulatory NSL complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:1606280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12196204 KANSL2 KAT8 regulatory NSL complex subunit 2 gene DOID:630 genetic disease ISO RGD:1606280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12196224 TOR2A torsin family 2 member A gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12196224 TOR2A torsin family 2 member A gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1345727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12196224 TOR2A torsin family 2 member A gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1345727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12196224 TOR2A torsin family 2 member A gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1345727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 12196224 TOR2A torsin family 2 member A gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12196224 TOR2A torsin family 2 member A gene DOID:630 genetic disease ISO RGD:1345727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12196233 SKA3 spindle and kinetochore associated complex subunit 3 gene DOID:630 genetic disease ISO RGD:1316254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12196233 SKA3 spindle and kinetochore associated complex subunit 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1316254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12196252 RRP7 ribosomal RNA processing 7 homolog gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1607047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 12196252 RRP7 ribosomal RNA processing 7 homolog gene DOID:1059 intellectual disability ISO RGD:1607047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12196252 RRP7 ribosomal RNA processing 7 homolog gene DOID:630 genetic disease ISO RGD:1607047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12196252 RRP7 ribosomal RNA processing 7 homolog gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1607047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 12196252 RRP7 ribosomal RNA processing 7 homolog gene DOID:9007625 Primary Autosomal Recessive Microcephaly 28 ISO RGD:1607047 D RGD:7240710 20210804 OMIM 12196252 RRP7 ribosomal RNA processing 7 homolog gene DOID:9007625 Primary Autosomal Recessive Microcephaly 28 ISO RGD:1607047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 28, primary, autosomal recessive PMID:33199730 12196263 NPC1L1 NPC1 like intracellular cholesterol transporter 1 gene DOID:2349 arteriosclerosis ISO RGD:1615659 D RGD:9068941 20200609 RGD PMID:17218600|REF_RGD_ID:1642183 12196263 NPC1L1 NPC1 like intracellular cholesterol transporter 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12196263 NPC1L1 NPC1 like intracellular cholesterol transporter 1 gene DOID:630 genetic disease ISO RGD:1345181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12196263 NPC1L1 NPC1 like intracellular cholesterol transporter 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1615659 D RGD:9068941 20200609 RGD PMID:15671032|REF_RGD_ID:1642184 12196263 NPC1L1 NPC1 like intracellular cholesterol transporter 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1303135 D RGD:9068941 20200609 RGD mRNA:increased expression:intestine, liver PMID:17292734|REF_RGD_ID:1642185 12196264 SLC38A5 solute carrier family 38 member 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:730905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12196264 SLC38A5 solute carrier family 38 member 5 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:730905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 12196264 SLC38A5 solute carrier family 38 member 5 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:730905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12196264 SLC38A5 solute carrier family 38 member 5 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:730905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12196264 SLC38A5 solute carrier family 38 member 5 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:730905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12196264 SLC38A5 solute carrier family 38 member 5 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:730905 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12196264 SLC38A5 solute carrier family 38 member 5 gene DOID:12849 autistic disorder ISO RGD:730905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12196264 SLC38A5 solute carrier family 38 member 5 gene DOID:630 genetic disease ISO RGD:730905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12196264 SLC38A5 solute carrier family 38 member 5 gene DOID:9005930 Endotoxemia ISO RGD:620702 D RGD:9068941 20200609 RGD PMID:20036385|REF_RGD_ID:9999227 12196288 SNRPD2 small nuclear ribonucleoprotein D2 polypeptide gene DOID:630 genetic disease ISO RGD:1312873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12196288 SNRPD2 small nuclear ribonucleoprotein D2 polypeptide gene DOID:9074 systemic lupus erythematosus ISO RGD:1312873 D RGD:9068941 20200609 RGD PMID:11823543|REF_RGD_ID:10766471 12196296 GJB7 gap junction protein beta 7 gene DOID:630 genetic disease ISO RGD:1346461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12196303 IDI1 isopentenyl-diphosphate delta isomerase 1 gene DOID:630 genetic disease ISO RGD:735459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12196308 ANKRD42 ankyrin repeat domain 42 gene DOID:1059 intellectual disability ISO RGD:1605233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12196308 ANKRD42 ankyrin repeat domain 42 gene DOID:630 genetic disease ISO RGD:1605233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12196334 STX16 syntaxin 16 gene DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 ISO RGD:1319758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 12196334 STX16 syntaxin 16 gene DOID:0080222 pseudohypoparathyroidism type IB ISO RGD:1319758 D RGD:7240710 20180130 OMIM 12196334 STX16 syntaxin 16 gene DOID:0080222 pseudohypoparathyroidism type IB ISO RGD:1319758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B PMID:14561710|PMID:15579741|PMID:15800843|PMID:25741868|PMID:28492532 12196334 STX16 syntaxin 16 gene DOID:4479 pseudohypoaldosteronism ISO RGD:1319758 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12196334 STX16 syntaxin 16 gene DOID:630 genetic disease ISO RGD:1319758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12196417 GPR183 G protein-coupled receptor 183 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1346200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 12196417 GPR183 G protein-coupled receptor 183 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1346200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 12196417 GPR183 G protein-coupled receptor 183 gene DOID:2986 IgA glomerulonephritis ISO RGD:1346200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 12196417 GPR183 G protein-coupled receptor 183 gene DOID:4621 holoprosencephaly ISO RGD:1346200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 12196417 GPR183 G protein-coupled receptor 183 gene DOID:630 genetic disease ISO RGD:1346200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12196417 GPR183 G protein-coupled receptor 183 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1346200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12196470 JAZF1 JAZF zinc finger 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12196470 JAZF1 JAZF zinc finger 1 gene DOID:630 genetic disease ISO RGD:1604718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12196470 JAZF1 JAZF zinc finger 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264096 12196470 JAZF1 JAZF zinc finger 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1604718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264096 12196470 JAZF1 JAZF zinc finger 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1604718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838195 12196470 JAZF1 JAZF zinc finger 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18372903 12196485 CDC34 cell division cycle 34, ubiqiutin conjugating enzyme gene DOID:630 genetic disease ISO RGD:1313428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12196518 ASB5 ankyrin repeat and SOCS box containing 5 gene DOID:630 genetic disease ISO RGD:1352084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12196518 ASB5 ankyrin repeat and SOCS box containing 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12196529 DAAM1 dishevelled associated activator of morphogenesis 1 gene DOID:0060036 intrinsic cardiomyopathy ISO RGD:1312963 D RGD:9068941 20220825 MouseDO 12196529 DAAM1 dishevelled associated activator of morphogenesis 1 gene DOID:1826 epilepsy ISO RGD:1346826 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12196529 DAAM1 dishevelled associated activator of morphogenesis 1 gene DOID:630 genetic disease ISO RGD:1346826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12196567 ADGRE2 adhesion G protein-coupled receptor E2 gene DOID:1554 vibratory urticaria ISO RGD:1345702 D RGD:7240710 20180130 OMIM 12196567 ADGRE2 adhesion G protein-coupled receptor E2 gene DOID:1554 vibratory urticaria ISO RGD:1345702 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Vibratory urticaria PMID:25741868|PMID:28492532|PMID:7294069 12196567 ADGRE2 adhesion G protein-coupled receptor E2 gene DOID:630 genetic disease ISO RGD:1345702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12196567 ADGRE2 adhesion G protein-coupled receptor E2 gene DOID:743 dermatographia ISO RGD:1345702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12196607 ERG28 ergosterol biosynthesis 28 homolog gene DOID:1059 intellectual disability ISO RGD:1321865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12196622 CLASP1 cytoplasmic linker associated protein 1 gene DOID:0050700 cardiomyopathy ISO RGD:1322173 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26522830|PMID:28492532|PMID:28669401|PMID:32628740 12196622 CLASP1 cytoplasmic linker associated protein 1 gene DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I ISO RGD:1322173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Low-birth-weight dwarfism with skeletal dysplasia | ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1 PMID:10189087|PMID:12409455|PMID:12605445|PMID:21474760|PMID:21474761|PMID:21977988|PMID:21990275|PMID:22581640|PMID:23794361|PMID:24865609|PMID:25741868|PMID:25741869|PMID:26419500|PMID:26522830|PMID:26641461|PMID:27040866|PMID:28492532|PMID:28623346|PMID:28669401|PMID:29165669|PMID:29263834|PMID:29265708|PMID:29391254|PMID:30214071|PMID:30368667|PMID:30455926|PMID:32109076|PMID:32581362|PMID:32595695|PMID:32628740|PMID:33059947 12196622 CLASP1 cytoplasmic linker associated protein 1 gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:1322173 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita PMID:25741868|PMID:26522830|PMID:28492532|PMID:28669401|PMID:30368667|PMID:32628740 12196622 CLASP1 cytoplasmic linker associated protein 1 gene DOID:630 genetic disease ISO RGD:1322173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12196622 CLASP1 cytoplasmic linker associated protein 1 gene DOID:9000632 Lowry Wood Syndrome ISO RGD:1322173 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MICROCEPHALY AND RETINAL DYSTROPHY | ClinVar Annotator: match by term: Lowry-Wood syndrome PMID:12605445|PMID:19288552|PMID:21474760|PMID:21474761|PMID:21977988|PMID:24865609|PMID:25735804|PMID:25741868|PMID:26522830|PMID:28492532|PMID:28669401|PMID:29165669|PMID:29265708|PMID:29391254|PMID:30368667|PMID:32581362|PMID:32628740 12196622 CLASP1 cytoplasmic linker associated protein 1 gene DOID:9002458 Roifman Syndrome ISO RGD:1322173 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Roifman syndrome PMID:10189087|PMID:21474760|PMID:21474761|PMID:21977988|PMID:22581640|PMID:24865609|PMID:25735804|PMID:25741868|PMID:26522830|PMID:27040866|PMID:28492532|PMID:28623346|PMID:28669401|PMID:29165669|PMID:29263834|PMID:29265708|PMID:29391254|PMID:30368667|PMID:30455926|PMID:32109076|PMID:32581362|PMID:32595695|PMID:32628740 12196622 CLASP1 cytoplasmic linker associated protein 1 gene DOID:9007073 Cough susceptibility ISO RGD:1322173 D RGD:9068941 20200609 RGD associated with Drug-Related Side Effects and Adverse Reactions; DNA:SNPs:multiple: PMID:28084903|REF_RGD_ID:27226683 12196622 CLASP1 cytoplasmic linker associated protein 1 gene DOID:9007661 Dwarfism ISO RGD:1322173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:12409455|PMID:21474760|PMID:21990275|PMID:22581640|PMID:23794361|PMID:25741868|PMID:26419500|PMID:26522830|PMID:27040866|PMID:28492532|PMID:28669401|PMID:29263834|PMID:29391254|PMID:30214071|PMID:30368667|PMID:32581362|PMID:32595695|PMID:32628740 12196680 LYSET lysosomal enzyme trafficking factor gene DOID:0080054 achondrogenesis type IA ISO RGD:1349199 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12196680 LYSET lysosomal enzyme trafficking factor gene DOID:1059 intellectual disability ISO RGD:1349199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12196680 LYSET lysosomal enzyme trafficking factor gene DOID:630 genetic disease ISO RGD:1349199 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12196680 LYSET lysosomal enzyme trafficking factor gene DOID:9005886 DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE ISO RGD:1349199 D RGD:7240710 20210818 OMIM 12196680 LYSET lysosomal enzyme trafficking factor gene DOID:9005886 DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE ISO RGD:1349199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE PMID:33252156 12196686 GPSM1 G protein signaling modulator 1 gene DOID:0050777 Joubert syndrome ISO RGD:1348855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12196686 GPSM1 G protein signaling modulator 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1348855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12196686 GPSM1 G protein signaling modulator 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1348855 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12196686 GPSM1 G protein signaling modulator 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1348855 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12196686 GPSM1 G protein signaling modulator 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1348855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12196686 GPSM1 G protein signaling modulator 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1348855 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12196686 GPSM1 G protein signaling modulator 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1348855 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12196686 GPSM1 G protein signaling modulator 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1348855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12196686 GPSM1 G protein signaling modulator 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1348855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12196686 GPSM1 G protein signaling modulator 1 gene DOID:3652 Leigh disease ISO RGD:1348855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12196686 GPSM1 G protein signaling modulator 1 gene DOID:630 genetic disease ISO RGD:1348855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12196686 GPSM1 G protein signaling modulator 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1348855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15091342 12196686 GPSM1 G protein signaling modulator 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1348855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 12196719 MIR452 microRNA mir-452 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12196719 MIR452 microRNA mir-452 gene DOID:12849 autistic disorder ISO RGD:1603787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12196719 MIR452 microRNA mir-452 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12196719 MIR452 microRNA mir-452 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1603787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12196719 MIR452 microRNA mir-452 gene DOID:9256 colorectal cancer ISO RGD:1603787 D RGD:9068941 20220908 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12196746 ZFC3H1 zinc finger C3H1-type containing gene DOID:630 genetic disease ISO RGD:1606690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12196746 ZFC3H1 zinc finger C3H1-type containing gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1606690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12196746 ZFC3H1 zinc finger C3H1-type containing gene DOID:9007661 Dwarfism ISO RGD:1606690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12196785 PNO1 partner of NOB1 homolog gene DOID:630 genetic disease ISO RGD:1604334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12196796 PDE1C phosphodiesterase 1C gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:68463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA PMID:29860631 12196796 PDE1C phosphodiesterase 1C gene DOID:0112165 autosomal dominant nonsyndromic deafness 74 ISO RGD:68463 D RGD:7240710 20190315 OMIM 12196796 PDE1C phosphodiesterase 1C gene DOID:0112165 autosomal dominant nonsyndromic deafness 74 ISO RGD:68463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 74 PMID:25741868|PMID:28492532|PMID:29860631 12196796 PDE1C phosphodiesterase 1C gene DOID:10283 prostate cancer ISO RGD:68463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12196796 PDE1C phosphodiesterase 1C gene DOID:303 substance-related disorder ISO RGD:68463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12196796 PDE1C phosphodiesterase 1C gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:68463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12196796 PDE1C phosphodiesterase 1C gene DOID:630 genetic disease ISO RGD:68463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12196843 AUP1 AUP1 lipid droplet regulating VLDL assembly factor gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1602731 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12196843 AUP1 AUP1 lipid droplet regulating VLDL assembly factor gene DOID:543 dystonia ISO RGD:1602731 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12196843 AUP1 AUP1 lipid droplet regulating VLDL assembly factor gene DOID:630 genetic disease ISO RGD:1602731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12196843 AUP1 AUP1 lipid droplet regulating VLDL assembly factor gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1602731 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12196843 AUP1 AUP1 lipid droplet regulating VLDL assembly factor gene DOID:9002859 Parkinson's Disease 13 ISO RGD:1602731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to PMID:18401856|PMID:18790661 12196859 ATP6V0D2 ATPase H+ transporting V0 subunit d2 gene DOID:5119 ovarian cyst ISO RGD:1315777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12196859 ATP6V0D2 ATPase H+ transporting V0 subunit d2 gene DOID:630 genetic disease ISO RGD:1315777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12196859 ATP6V0D2 ATPase H+ transporting V0 subunit d2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1315777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 12196871 NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1603903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:24442880|PMID:28492532 12196871 NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:0080761 Fanconi renotubular syndrome 5 ISO RGD:1603903 D RGD:7240710 20200701 OMIM 12196871 NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:0080761 Fanconi renotubular syndrome 5 ISO RGD:1603903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi renotubular syndrome 5 PMID:25741868|PMID:27466185|PMID:28492532 12196871 NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:0112078 nuclear type mitochondrial complex I deficiency 17 ISO RGD:1603903 D RGD:7240710 20190315 OMIM 12196871 NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:0112078 nuclear type mitochondrial complex I deficiency 17 ISO RGD:1603903 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 PMID:18614015|PMID:22019594|PMID:25741868|PMID:26741492|PMID:27623250|PMID:28492532|PMID:28639102|PMID:29531337|PMID:30642748|PMID:31665838|PMID:31967322|PMID:32348839|PMID:33097395 12196871 NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:3652 Leigh disease ISO RGD:1603903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:17576681|PMID:25741868|PMID:26741492|PMID:28492532|PMID:28639102|PMID:30642748|PMID:31665838|PMID:31967322|PMID:32348839|PMID:33097395|PMID:9536098 12196871 NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:630 genetic disease ISO RGD:1603903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:27623250|PMID:28492532|PMID:29531337|PMID:9536098 12196871 NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1603903 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:26741492|PMID:28492532|PMID:28639102|PMID:30642748|PMID:31665838|PMID:31967322|PMID:32348839|PMID:33097395 12196890 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1343936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:23472171|PMID:25741868|PMID:32979048 12196890 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:0110803 hereditary spastic paraplegia 51 ISO RGD:1343936 D RGD:7240710 20180130 OMIM 12196890 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:0110803 hereditary spastic paraplegia 51 ISO RGD:1343936 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 PMID:18414213|PMID:20972249|PMID:21937992|PMID:23472171|PMID:25741868|PMID:28492532|PMID:32979048 12196890 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:1059 intellectual disability ISO RGD:1343936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12196890 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1343936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:25741868|PMID:26544806|PMID:28492532 12196890 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1343936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:25741868|PMID:26350204|PMID:26544806|PMID:28492532 12196890 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:2717 Bloom syndrome ISO RGD:1343936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12196890 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:574 peripheral nervous system disease ISO RGD:1343936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 12196890 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:607 paraplegia ISO RGD:1343936 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:17576681|PMID:18414213|PMID:21620353|PMID:21937992|PMID:23472171|PMID:25167861|PMID:25741868|PMID:26350204|PMID:26544806|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942|PMID:32979048|PMID:9536098 12196890 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:630 genetic disease ISO RGD:1343936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:26350204|PMID:26544806|PMID:28492532 12196890 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:870 neuropathy ISO RGD:1343936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 12196890 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:9005717 Familial Persistent Stuttering 1 ISO RGD:1343936 D RGD:7240710 20190315 OMIM 12196890 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:9005717 Familial Persistent Stuttering 1 ISO RGD:1343936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stuttering, familial persistent, 1 PMID:18414213|PMID:25741868|PMID:26350204|PMID:26544806|PMID:28492532 12196890 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1343936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12196890 AP4E1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:9256 colorectal cancer ISO RGD:1343936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12196916 GABPA GA binding protein transcription factor subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:1321915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:22491860|PMID:24691562|PMID:25741868|PMID:28492532 12196916 GABPA GA binding protein transcription factor subunit alpha gene DOID:630 genetic disease ISO RGD:1321915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12196916 GABPA GA binding protein transcription factor subunit alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12196944 LPP LIM domain containing preferred translocation partner in lipoma gene DOID:5419 schizophrenia ISO RGD:1321494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12196944 LPP LIM domain containing preferred translocation partner in lipoma gene DOID:630 genetic disease ISO RGD:1321494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12196944 LPP LIM domain containing preferred translocation partner in lipoma gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1321494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12196944 LPP LIM domain containing preferred translocation partner in lipoma gene DOID:9119 acute myeloid leukemia ISO RGD:1321494 D RGD:7240710 20180130 OMIM 12196944 LPP LIM domain containing preferred translocation partner in lipoma gene DOID:9119 acute myeloid leukemia ISO RGD:1321494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868 12196977 SUPT6H SPT6 homolog, histone chaperone and transcription elongation factor gene DOID:630 genetic disease ISO RGD:1319556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197020 EFCAB6 EF-hand calcium binding domain 6 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1601856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12197020 EFCAB6 EF-hand calcium binding domain 6 gene DOID:10283 prostate cancer ISO RGD:1601856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12197020 EFCAB6 EF-hand calcium binding domain 6 gene DOID:1059 intellectual disability ISO RGD:1601856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12197020 EFCAB6 EF-hand calcium binding domain 6 gene DOID:630 genetic disease ISO RGD:1601856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197070 LRRD1 leucine rich repeats and death domain containing 1 gene DOID:0060669 cerebral cavernous malformation ISO RGD:5132687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 12197070 LRRD1 leucine rich repeats and death domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:5132687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12197070 LRRD1 leucine rich repeats and death domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:5132687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12197070 LRRD1 leucine rich repeats and death domain containing 1 gene DOID:630 genetic disease ISO RGD:5132687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197081 PDGFC platelet derived growth factor C gene DOID:0080600 COVID-19 ISO RGD:68605 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12197081 PDGFC platelet derived growth factor C gene DOID:630 genetic disease ISO RGD:68605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197081 PDGFC platelet derived growth factor C gene DOID:9003566 Mesothelioma ISO RGD:68605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15920167 12197091 MRGPRD MAS related GPR family member D gene DOID:1059 intellectual disability ISO RGD:1344076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12197091 MRGPRD MAS related GPR family member D gene DOID:12930 dilated cardiomyopathy ISO RGD:1553636 D RGD:9068941 20220825 MouseDO 12197091 MRGPRD MAS related GPR family member D gene DOID:630 genetic disease ISO RGD:1344076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197091 MRGPRD MAS related GPR family member D gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1344076 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12197091 MRGPRD MAS related GPR family member D gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1344076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12197094 NCAN neurocan gene DOID:11054 urinary bladder cancer ISO RGD:1344259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 12197094 NCAN neurocan gene DOID:3312 bipolar disorder ISO RGD:1344259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12197094 NCAN neurocan gene DOID:4428 dyslexia ISO RGD:1344259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental dyslexia PMID:28839234 12197094 NCAN neurocan gene DOID:630 genetic disease ISO RGD:1344259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197117 ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 gene DOID:0080490 mucolipidosis type IV ISO RGD:1322915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12197117 ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1322915 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 PMID:28492532 12197117 ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 gene DOID:630 genetic disease ISO RGD:1322915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12197117 ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 gene DOID:8501 fundus dystrophy ISO RGD:1322915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 12197117 ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 gene DOID:9003675 Retinitis Pigmentosa 78 ISO RGD:1322915 D RGD:7240710 20190315 OMIM 12197117 ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 gene DOID:9003675 Retinitis Pigmentosa 78 ISO RGD:1322915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 78 PMID:16199547|PMID:25741868|PMID:28132693|PMID:28492532|PMID:32581362 12197155 TBXA2R thromboxane A2 receptor gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:735834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481|PMID:20485159 12197155 TBXA2R thromboxane A2 receptor gene DOID:0080822 aspirin-induced respiratory disease susceptibility ISO RGD:735834 D RGD:9068941 20200609 RGD DNA:polymorphism: :795T>C (human) PMID:15898979|REF_RGD_ID:11059537 12197155 TBXA2R thromboxane A2 receptor gene DOID:1074 kidney failure treatment ISO RGD:3825 D RGD:9068941 20200609 RGD associated with Cholestasis; PMID:9893136|REF_RGD_ID:11059601 12197155 TBXA2R thromboxane A2 receptor gene DOID:11394 adult respiratory distress syndrome treatment ISO RGD:3825 D RGD:9068941 20200609 RGD PMID:1934328|REF_RGD_ID:11059533 12197155 TBXA2R thromboxane A2 receptor gene DOID:14115 toxic shock syndrome treatment ISO RGD:3825 D RGD:9068941 20200609 RGD PMID:7816742|REF_RGD_ID:11059599 12197155 TBXA2R thromboxane A2 receptor gene DOID:1588 thrombocytopenia ISO RGD:3825 D RGD:9068941 20200609 RGD PMID:2528013|REF_RGD_ID:11059527 12197155 TBXA2R thromboxane A2 receptor gene DOID:1588 thrombocytopenia ISO RGD:733229 D RGD:9068941 20200609 RGD PMID:2528013|REF_RGD_ID:11059527 12197155 TBXA2R thromboxane A2 receptor gene DOID:2213 hemorrhagic disease ISO RGD:735834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19828703 12197155 TBXA2R thromboxane A2 receptor gene DOID:2218 blood platelet disease ISO RGD:735834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19828703|PMID:7929844 12197155 TBXA2R thromboxane A2 receptor gene DOID:2218 blood platelet disease ISO RGD:735834 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R60L(human) PMID:7929844|REF_RGD_ID:1578439 12197155 TBXA2R thromboxane A2 receptor gene DOID:2841 asthma ISO RGD:735834 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Asthma PMID:2955539|PMID:7929844|PMID:8428006|PMID:8613548 12197155 TBXA2R thromboxane A2 receptor gene DOID:2841 asthma severity ISO RGD:735834 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:924T>C(human) PMID:15805995|REF_RGD_ID:11059534 12197155 TBXA2R thromboxane A2 receptor gene DOID:2841 asthma susceptibility ISO RGD:735834 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:924T>C(human) PMID:12000493|REF_RGD_ID:11059535 12197155 TBXA2R thromboxane A2 receptor gene DOID:4483 rhinitis ISO RGD:735834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12167471 12197155 TBXA2R thromboxane A2 receptor gene DOID:630 genetic disease ISO RGD:735834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197155 TBXA2R thromboxane A2 receptor gene DOID:9003657 Perennial Allergic Rhinitis treatment ISO RGD:735834 D RGD:9068941 20200609 RGD PMID:15247523|REF_RGD_ID:11059532 12197155 TBXA2R thromboxane A2 receptor gene DOID:9003871 Venous Thrombosis treatment ISO RGD:3825 D RGD:9068941 20200609 RGD PMID:7848332|REF_RGD_ID:11059887 12197155 TBXA2R thromboxane A2 receptor gene DOID:9004283 Transplant Rejection ISO RGD:3825 D RGD:9068941 20200609 RGD PMID:7964472|REF_RGD_ID:11059606 12197155 TBXA2R thromboxane A2 receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12197155 TBXA2R thromboxane A2 receptor gene DOID:9005302 Platelet-Type Bleeding Disorder 13 ISO RGD:735834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 13, susceptibility to PMID:19828703|PMID:22517902|PMID:25741868|PMID:28492532|PMID:2955539|PMID:31064749|PMID:7929844|PMID:8428006|PMID:8613548 12197155 TBXA2R thromboxane A2 receptor gene DOID:9005302 Platelet-Type Bleeding Disorder 13 susceptibility ISO RGD:735834 D RGD:7240710 20190502 OMIM 12197155 TBXA2R thromboxane A2 receptor gene DOID:9005749 Necrosis ISO RGD:735834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22206755 12197155 TBXA2R thromboxane A2 receptor gene DOID:9005930 Endotoxemia ISO RGD:3825 D RGD:9068941 20200609 RGD PMID:15647606|PMID:2580129|REF_RGD_ID:11059531|REF_RGD_ID:1601450 12197155 TBXA2R thromboxane A2 receptor gene DOID:9006263 Experimental Pancreatitis treatment ISO RGD:3825 D RGD:9068941 20200609 RGD PMID:11341608|REF_RGD_ID:11059600 12197155 TBXA2R thromboxane A2 receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22206755 12197155 TBXA2R thromboxane A2 receptor gene DOID:9477 pulmonary embolism ISO RGD:735834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7740511 12197155 TBXA2R thromboxane A2 receptor gene DOID:9498 pulmonary eosinophilia treatment ISO RGD:733229 D RGD:9068941 20200609 RGD PMID:22802632|REF_RGD_ID:11059529 12197155 TBXA2R thromboxane A2 receptor gene DOID:9970 obesity ISO RGD:733229 D RGD:9068941 20200609 RGD mRNA:increased expression:carotid artery PMID:12409963|REF_RGD_ID:1601447 12197162 RCBTB2 RCC1 and BTB domain containing protein 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1351172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12197162 RCBTB2 RCC1 and BTB domain containing protein 2 gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1351172 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:17301081|PMID:26475597|PMID:28492532 12197162 RCBTB2 RCC1 and BTB domain containing protein 2 gene DOID:1059 intellectual disability ISO RGD:1351172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12197162 RCBTB2 RCC1 and BTB domain containing protein 2 gene DOID:2570 malignant histiocytic disease ISO RGD:1557599 D RGD:9068941 20220825 MouseDO 12197162 RCBTB2 RCC1 and BTB domain containing protein 2 gene DOID:630 genetic disease ISO RGD:1351172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197177 PROKR2 prokineticin receptor 2 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1353227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:18559922|PMID:24830383|PMID:25636053|PMID:25741868|PMID:26467025|PMID:27899157|PMID:28209183|PMID:28492532|PMID:28754744|PMID:29161432|PMID:31781422|PMID:33587123 12197177 PROKR2 prokineticin receptor 2 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1353227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:11259612|PMID:17054399|PMID:18559922|PMID:18682503|PMID:18826963|PMID:20022991|PMID:20696889|PMID:21858136|PMID:22466334|PMID:22927827|PMID:23386640|PMID:23533228|PMID:23596439|PMID:23643382|PMID:24031091|PMID:24276467|PMID:25741868|PMID:28492532|PMID:33227799|PMID:4276467|PMID:8954047 12197177 PROKR2 prokineticin receptor 2 gene DOID:0090092 hypogonadotropic hypogonadism 3 with or without anosmia ISO RGD:1353227 D RGD:7240710 20190102 OMIM 12197177 PROKR2 prokineticin receptor 2 gene DOID:0090092 hypogonadotropic hypogonadism 3 with or without anosmia ISO RGD:1353227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 without anosmia PMID:11259612|PMID:16537498|PMID:17054399|PMID:1855992|PMID:18559922|PMID:18682503|PMID:18723471|PMID:18826963|PMID:18985070|PMID:20022991|PMID:20502053|PMID:20696889|PMID:20981092|PMID:21209029|PMID:21247312|PMID:21858136|PMID:22035731|PMID:22319038|PMID:22399515|PMID:22466334|PMID:22745195|PMID:22773735|PMID:22927827|PMID:22995991|PMID:23082007|PMID:23200691|PMID:23386640|PMID:23533228|PMID:23596439|PMID:23643382|PMID:2403109|PMID:24031091|PMID:24204987|PMID:24276467|PMID:24753254|PMID:24830383|PMID:25531638|PMID:25636053|PMID:25678757|PMID:25741868|PMID:25759380|PMID:26031747|PMID:26467025|PMID:27899157|PMID:28209183|PMID:28492532|PMID:28754744|PMID:29161432|PMID:30311386|PMID:30430143|PMID:30576231|PMID:30773290|PMID:31093944|PMID:31781422|PMID:32763379|PMID:32870266|PMID:33227799|PMID:33587123|PMID:4276467|PMID:8954047 12197177 PROKR2 prokineticin receptor 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1353227 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12197177 PROKR2 prokineticin receptor 2 gene DOID:13938 amenorrhea ISO RGD:1353227 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:17054399|PMID:18682503|PMID:18826963|PMID:20022991|PMID:22466334|PMID:22745195|PMID:24830383|PMID:25741868|PMID:28492532|PMID:29161432|PMID:30773290|PMID:31093944|PMID:32870266 12197177 PROKR2 prokineticin receptor 2 gene DOID:1826 epilepsy ISO RGD:1353227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:17054399|PMID:18826963|PMID:20022991|PMID:21247312|PMID:21858136|PMID:22319038|PMID:22399515|PMID:22745195|PMID:23386640|PMID:23596439|PMID:24830383|PMID:25759380|PMID:28492532|PMID:29161432 12197177 PROKR2 prokineticin receptor 2 gene DOID:3614 Kallmann syndrome ISO RGD:1353227 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadism with anosmia PMID:17054399|PMID:18682503|PMID:18826963|PMID:20022991|PMID:22466334|PMID:22745195|PMID:24830383|PMID:25741868|PMID:28492532|PMID:29161432|PMID:31093944|PMID:32870266 12197177 PROKR2 prokineticin receptor 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1353227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12197177 PROKR2 prokineticin receptor 2 gene DOID:5223 infertility ISO RGD:1353227 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Infertility PMID:16537498|PMID:17054399|PMID:18559922|PMID:18682503|PMID:18723471|PMID:18826963|PMID:20022991|PMID:20696889|PMID:21209029|PMID:21247312|PMID:22035731|PMID:22466334|PMID:22773735|PMID:23386640|PMID:23643382|PMID:24031091|PMID:24276467|PMID:24830383|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29161432 12197177 PROKR2 prokineticin receptor 2 gene DOID:630 genetic disease ISO RGD:1353227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11259612|PMID:17054399|PMID:18559922|PMID:18682503|PMID:18826963|PMID:20022991|PMID:20696889|PMID:21858136|PMID:22466334|PMID:22927827|PMID:23386640|PMID:23533228|PMID:23596439|PMID:23643382|PMID:24031091|PMID:24276467|PMID:25741868|PMID:28492532|PMID:33227799|PMID:4276467|PMID:8954047 12197177 PROKR2 prokineticin receptor 2 gene DOID:670 amphetamine abuse ISO RGD:1353227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20576534 12197177 PROKR2 prokineticin receptor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12197184 ZDHHC20 zinc finger DHHC-type palmitoyltransferase 20 gene DOID:630 genetic disease ISO RGD:1606124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197230 OR6C74 olfactory receptor family 6 subfamily C member 74 gene DOID:630 genetic disease ISO RGD:1350920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197233 CA1 carbonic anhydrase 1 gene DOID:0050758 metabolic acidosis ISO RGD:1320302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metabolic acidosis PMID:25741868 12197233 CA1 carbonic anhydrase 1 gene DOID:10316 pneumoconiosis ISO RGD:1320302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 12197233 CA1 carbonic anhydrase 1 gene DOID:299 adenocarcinoma ISO RGD:1320302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 12197233 CA1 carbonic anhydrase 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1320302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12197233 CA1 carbonic anhydrase 1 gene DOID:630 genetic disease ISO RGD:1320302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197233 CA1 carbonic anhydrase 1 gene DOID:655 inherited metabolic disorder ISO RGD:1320302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase I deficiency | ClinVar Annotator: match by term: Carbonic anhydrase I, Guam PMID:406674|PMID:6781336|PMID:827930 12197233 CA1 carbonic anhydrase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1320302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696|PMID:19424620 12197246 DCLRE1C DNA cross-link repair 1C gene DOID:0060010 Omenn syndrome ISO RGD:1348428 D RGD:7240710 20180130 OMIM 12197246 DCLRE1C DNA cross-link repair 1C gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1348428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12197246 DCLRE1C DNA cross-link repair 1C gene DOID:0080915 histiocytic sarcoma ISO RGD:1348428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Histiocytic medullary reticulosis PMID:11336668|PMID:15071507|PMID:15731174|PMID:17576681|PMID:18223550|PMID:19953608|PMID:21664875|PMID:24033266|PMID:24144642|PMID:25741868|PMID:25917813|PMID:26122175|PMID:26123418|PMID:26822949|PMID:28492532|PMID:34426522|PMID:9536098 12197246 DCLRE1C DNA cross-link repair 1C gene DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation ISO RGD:1348428 D RGD:7240710 20180130 OMIM 12197246 DCLRE1C DNA cross-link repair 1C gene DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation ISO RGD:1348428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, athabascan-type | ClinVar Annotator: match by term: Severe combined immunodeficiency, partial PMID:11336668|PMID:12055248|PMID:12569164|PMID:12592555|PMID:14744996|PMID:15071507|PMID:15242402|PMID:15731174|PMID:15770702|PMID:16199547|PMID:17169382|PMID:17576681|PMID:18034425|PMID:18223550|PMID:19763152|PMID:19912631|PMID:19953608|PMID:19967552|PMID:20307669|PMID:20674517|PMID:21147755|PMID:21390052|PMID:21664875|PMID:22406018|PMID:22527898|PMID:23701501|PMID:24033266|PMID:24144642|PMID:24230999|PMID:25640679|PMID:25741868|PMID:25762520|PMID:25917813|PMID:25981738|PMID:26122175|PMID:26123418|PMID:26476407|PMID:26822949|PMID:27611239|PMID:28492532|PMID:28747913|PMID:29167666|PMID:32888943|PMID:34220820|PMID:34426522|PMID:9536098 12197246 DCLRE1C DNA cross-link repair 1C gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:14033838 D RGD:9068941 20221006 OMIA Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation PMID:17998435|PMID:22903400|PMID:23514746|PMID:25454085|PMID:26320255|PMID:27269786|PMID:27988511|PMID:28747915|PMID:29152615|PMID:30560086|PMID:30723704|PMID:30843296|PMID:32117254|PMID:32296428|PMID:34004455 12197246 DCLRE1C DNA cross-link repair 1C gene DOID:12177 common variable immunodeficiency ISO RGD:1348428 D RGD:9068941 20200609 RGD DNA:missense mutation, frameshift mutation: :p.T65I (c.194C>T), c.1669_1670insA (human) PMID:26476407|REF_RGD_ID:11251730 12197246 DCLRE1C DNA cross-link repair 1C gene DOID:627 severe combined immunodeficiency ISO RGD:1348428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:20674517|PMID:22527898|PMID:24033266|PMID:25741868|PMID:25917813|PMID:28492532|PMID:29167666 12197246 DCLRE1C DNA cross-link repair 1C gene DOID:627 severe combined immunodeficiency susceptibility ISO RGD:1348428 D RGD:9068941 20200609 RGD DNA:deletion:exon PMID:11336668|REF_RGD_ID:1601049 12197246 DCLRE1C DNA cross-link repair 1C gene DOID:630 genetic disease ISO RGD:1348428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12197275 OR10Z1 olfactory receptor family 10 subfamily Z member 1 gene DOID:0110918 hereditary spherocytosis type 3 ISO RGD:1350384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis type 3 12197275 OR10Z1 olfactory receptor family 10 subfamily Z member 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1350384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spherocytosis, Recessive 12197275 OR10Z1 olfactory receptor family 10 subfamily Z member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1350384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12197275 OR10Z1 olfactory receptor family 10 subfamily Z member 1 gene DOID:2373 hereditary elliptocytosis ISO RGD:1350384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Elliptocytosis 12197275 OR10Z1 olfactory receptor family 10 subfamily Z member 1 gene DOID:630 genetic disease ISO RGD:1350384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197275 OR10Z1 olfactory receptor family 10 subfamily Z member 1 gene DOID:9000212 Hereditary Pyropoikilocytosis ISO RGD:1350384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary 12197275 OR10Z1 olfactory receptor family 10 subfamily Z member 1 gene DOID:9000941 Elliptocytosis 2 ISO RGD:1350384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Elliptocytosis 2 12197275 OR10Z1 olfactory receptor family 10 subfamily Z member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12197278 PCNX2 pecanex 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1605048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12197278 PCNX2 pecanex 2 gene DOID:630 genetic disease ISO RGD:1605048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197278 PCNX2 pecanex 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12197315 ZNF469 zinc finger protein 469 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1316175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12197315 ZNF469 zinc finger protein 469 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1316175 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12197315 ZNF469 zinc finger protein 469 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1316175 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:25168418 12197315 ZNF469 zinc finger protein 469 gene DOID:10124 corneal disease ISO RGD:1316175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18452888 12197315 ZNF469 zinc finger protein 469 gene DOID:10126 keratoconus ISO RGD:1316175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Keratoconus PMID:24895405|PMID:25741868|PMID:28492532 12197315 ZNF469 zinc finger protein 469 gene DOID:11830 myopia ISO RGD:1316175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868|PMID:28492532 12197315 ZNF469 zinc finger protein 469 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1316175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:24082139|PMID:24895405|PMID:25097247|PMID:25564447|PMID:25741868|PMID:28377322|PMID:28484309|PMID:28492532|PMID:28622062|PMID:29228253|PMID:31107761|PMID:32671420|PMID:33739556|PMID:33816482|PMID:34368841 12197315 ZNF469 zinc finger protein 469 gene DOID:14775 brittle cornea syndrome 1 ISO RGD:1316175 D RGD:7240710 20180130 OMIM 12197315 ZNF469 zinc finger protein 469 gene DOID:14775 brittle cornea syndrome 1 ISO RGD:1316175 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE | ClinVar Annotator: match by term: EDS6B PMID:18452888|PMID:19661234|PMID:20938016|PMID:24082139|PMID:24895405|PMID:25097247|PMID:25564447|PMID:25741868|PMID:28377322|PMID:28484309|PMID:28492532|PMID:28622062|PMID:29228253|PMID:31107761|PMID:32671420|PMID:33739556|PMID:33747040|PMID:33816482|PMID:34368841|PMID:5755738|PMID:7387950 12197315 ZNF469 zinc finger protein 469 gene DOID:14780 KBG syndrome ISO RGD:1316175 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 12197315 ZNF469 zinc finger protein 469 gene DOID:630 genetic disease ISO RGD:1316175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12197315 ZNF469 zinc finger protein 469 gene DOID:65 connective tissue disease ISO RGD:1316175 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 12197315 ZNF469 zinc finger protein 469 gene DOID:8534 gastroesophageal reflux disease ISO RGD:1316175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux PMID:25741868 12197315 ZNF469 zinc finger protein 469 gene DOID:9001224 Striae Distensae ISO RGD:1316175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Striae distensae PMID:25741868 12197315 ZNF469 zinc finger protein 469 gene DOID:9001946 Skin Abnormalities ISO RGD:1316175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18452888 12197315 ZNF469 zinc finger protein 469 gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1316175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to PMID:24530203|PMID:26913920|PMID:28492532 12197315 ZNF469 zinc finger protein 469 gene DOID:9003318 Keratoconus 1 ISO RGD:1316175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Keratoconus 1 PMID:24895405|PMID:25564447|PMID:25741868|PMID:28492532|PMID:29228253 12197315 ZNF469 zinc finger protein 469 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1316175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12197315 ZNF469 zinc finger protein 469 gene DOID:9005077 Joint Instability ISO RGD:1316175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity PMID:25741868 12197315 ZNF469 zinc finger protein 469 gene DOID:9005468 Brittle Cornea Syndrome ISO RGD:1316175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome PMID:25741868|PMID:28492532|PMID:29228253 12197321 ESRP2 epithelial splicing regulatory protein 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12197321 ESRP2 epithelial splicing regulatory protein 2 gene DOID:0080600 COVID-19 ISO RGD:1605047 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12197321 ESRP2 epithelial splicing regulatory protein 2 gene DOID:630 genetic disease ISO RGD:1605047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197321 ESRP2 epithelial splicing regulatory protein 2 gene DOID:9296 cleft lip ISO RGD:1605047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft lip with or without cleft palate PMID:29805042 12197362 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:0080282 developmental and epileptic encephalopathy 56 ISO RGD:736065 D RGD:7240710 20190315 OMIM 12197362 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:0080282 developmental and epileptic encephalopathy 56 ISO RGD:736065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 56 PMID:23934111|PMID:25741868|PMID:28492532|PMID:28777935|PMID:31926053|PMID:33590706|PMID:33619735|PMID:33767733|PMID:34294877|PMID:34413451|PMID:36243722 12197362 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:0080600 COVID-19 ISO RGD:736065 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12197362 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:736065 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:27929120|PMID:30309804|PMID:31541342|REF_RGD_ID:127284880|REF_RGD_ID:127284881|REF_RGD_ID:127284887 12197362 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:1826 epilepsy ISO RGD:736065 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:31926053 12197362 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12197362 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:630 genetic disease ISO RGD:736065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31926053|PMID:33590706|PMID:34294877|PMID:34413451|PMID:36243722 12197362 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:8927 learning disability ISO RGD:736065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Specific learning disability 12197362 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease ISO RGD:736065 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:27929120|REF_RGD_ID:127284887 12197362 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12197362 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:736065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12197367 TRIM72 tripartite motif containing 72 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1603795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12197367 TRIM72 tripartite motif containing 72 gene DOID:630 genetic disease ISO RGD:1603795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197380 RXRA retinoid X receptor alpha gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12197380 RXRA retinoid X receptor alpha gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:736929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12197380 RXRA retinoid X receptor alpha gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:736929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12197380 RXRA retinoid X receptor alpha gene DOID:0080324 tuberous sclerosis 1 ISO RGD:736929 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12197380 RXRA retinoid X receptor alpha gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:736929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12197380 RXRA retinoid X receptor alpha gene DOID:0081097 Rafiq syndrome ISO RGD:736929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12197380 RXRA retinoid X receptor alpha gene DOID:11446 sciatic neuropathy ISO RGD:736929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16782282 12197380 RXRA retinoid X receptor alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:11250 D RGD:9068941 20220825 MouseDO 12197380 RXRA retinoid X receptor alpha gene DOID:12935 alcoholic cardiomyopathy ISO RGD:3610 D RGD:9068941 20200609 RGD PMID:19791468|REF_RGD_ID:2317465 12197380 RXRA retinoid X receptor alpha gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12197380 RXRA retinoid X receptor alpha gene DOID:1682 congenital heart disease ISO RGD:11250 D RGD:9068941 20220825 MouseDO 12197380 RXRA retinoid X receptor alpha gene DOID:1790 malignant mesothelioma ISO RGD:736929 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12197380 RXRA retinoid X receptor alpha gene DOID:1793 pancreatic cancer ISO RGD:736929 D RGD:9068941 20200609 RGD PMID:19152448|REF_RGD_ID:2317462 12197380 RXRA retinoid X receptor alpha gene DOID:2671 transitional cell carcinoma ISO RGD:736929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011 12197380 RXRA retinoid X receptor alpha gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:736929 D RGD:9068941 20200609 RGD PMID:19396032|REF_RGD_ID:2317461 12197380 RXRA retinoid X receptor alpha gene DOID:3652 Leigh disease ISO RGD:736929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12197380 RXRA retinoid X receptor alpha gene DOID:4074 pancreatic adenocarcinoma ISO RGD:736929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:26619011 12197380 RXRA retinoid X receptor alpha gene DOID:630 genetic disease ISO RGD:736929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197380 RXRA retinoid X receptor alpha gene DOID:684 hepatocellular carcinoma ISO RGD:736929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:26619011 12197380 RXRA retinoid X receptor alpha gene DOID:8634 prostate carcinoma in situ ISO RGD:3610 D RGD:9068941 20200609 RGD protein:decreased expression:prostate PMID:15318950|REF_RGD_ID:1643115 12197380 RXRA retinoid X receptor alpha gene DOID:9000965 Neoplasm Metastasis ISO RGD:3610 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:15318950|REF_RGD_ID:1643115 12197380 RXRA retinoid X receptor alpha gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736929 D RGD:9068941 20200609 RGD PMID:15566521|REF_RGD_ID:1643114 12197380 RXRA retinoid X receptor alpha gene DOID:9001579 Neurogenic Inflammation ISO RGD:3610 D RGD:9068941 20200609 RGD protein:increased expression:macrophage PMID:16782282|REF_RGD_ID:1643108 12197380 RXRA retinoid X receptor alpha gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:3610 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:17786350|REF_RGD_ID:1643105 12197380 RXRA retinoid X receptor alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:3610 D RGD:9068941 20200609 RGD protein:decreased expression:prostate PMID:15318950|REF_RGD_ID:1643115 12197380 RXRA retinoid X receptor alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:736929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15318950 12197380 RXRA retinoid X receptor alpha gene DOID:9002498 Wallerian Degeneration ISO RGD:3610 D RGD:9068941 20200609 RGD mRNA:increased expression:sciatic nerve PMID:16782282|REF_RGD_ID:1643108 12197380 RXRA retinoid X receptor alpha gene DOID:9004484 Sepsis ISO RGD:3610 D RGD:9068941 20200609 RGD protein:altered localization:liver PMID:19008781|REF_RGD_ID:2317466 12197380 RXRA retinoid X receptor alpha gene DOID:9004484 Sepsis ISO RGD:3610 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:17483744|REF_RGD_ID:1643106 12197380 RXRA retinoid X receptor alpha gene DOID:9004547 Thyroid Neoplasms ISO RGD:736929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23811263 12197380 RXRA retinoid X receptor alpha gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3610 D RGD:9068941 20200609 RGD PMID:16344269|REF_RGD_ID:1643109 12197380 RXRA retinoid X receptor alpha gene DOID:9009073 Diaphragmatic Hernia ISO RGD:3610 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17270546|REF_RGD_ID:1643107 12197380 RXRA retinoid X receptor alpha gene DOID:9074 systemic lupus erythematosus ISO RGD:11250 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12197380 RXRA retinoid X receptor alpha gene DOID:9538 multiple myeloma ISO RGD:736929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12197380 RXRA retinoid X receptor alpha gene DOID:9970 obesity susceptibility ISO RGD:11250 D RGD:9068941 20200609 RGD PMID:15936932|REF_RGD_ID:1643104 12197397 ZNF81 zinc finger protein 81 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1349324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 12197397 ZNF81 zinc finger protein 81 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12197397 ZNF81 zinc finger protein 81 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1349324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 12197397 ZNF81 zinc finger protein 81 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1349324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12197397 ZNF81 zinc finger protein 81 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1349324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12197397 ZNF81 zinc finger protein 81 gene DOID:0112028 non-syndromic X-linked intellectual disability 45 ISO RGD:1349324 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked 45 PMID:10398246|PMID:15121780 12197397 ZNF81 zinc finger protein 81 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1349324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12197397 ZNF81 zinc finger protein 81 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1349324 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12197397 ZNF81 zinc finger protein 81 gene DOID:12849 autistic disorder ISO RGD:1349324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12197397 ZNF81 zinc finger protein 81 gene DOID:630 genetic disease ISO RGD:1349324 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868 12197405 SRRM3 serine/arginine repetitive matrix 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12197405 SRRM3 serine/arginine repetitive matrix 3 gene DOID:630 genetic disease ISO RGD:1601811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197405 SRRM3 serine/arginine repetitive matrix 3 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1601811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12197443 CENPBD1P CENPB DNA-binding domain containing 1 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1605600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12197443 CENPBD1P CENPB DNA-binding domain containing 1 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1605600 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12197443 CENPBD1P CENPB DNA-binding domain containing 1 gene DOID:13636 Fanconi anemia ISO RGD:1605600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 12197443 CENPBD1P CENPB DNA-binding domain containing 1 gene DOID:630 genetic disease ISO RGD:1605600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197456 RAI2 retinoic acid induced 2 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1353493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12197456 RAI2 retinoic acid induced 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12197456 RAI2 retinoic acid induced 2 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1353493 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:19780792|PMID:21770923|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684 12197456 RAI2 retinoic acid induced 2 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1353493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12197456 RAI2 retinoic acid induced 2 gene DOID:12849 autistic disorder ISO RGD:1353493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12197456 RAI2 retinoic acid induced 2 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1353493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12197456 RAI2 retinoic acid induced 2 gene DOID:630 genetic disease ISO RGD:1353493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197456 RAI2 retinoic acid induced 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12197456 RAI2 retinoic acid induced 2 gene DOID:9565 dextrocardia ISO RGD:1353493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dextrocardia 12197462 CYP2U1 cytochrome P450 family 2 subfamily U member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1319774 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12197462 CYP2U1 cytochrome P450 family 2 subfamily U member 1 gene DOID:0110808 hereditary spastic paraplegia 56 ISO RGD:1319774 D RGD:7240710 20180130 OMIM 12197462 CYP2U1 cytochrome P450 family 2 subfamily U member 1 gene DOID:0110808 hereditary spastic paraplegia 56 ISO RGD:1319774 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 56 PMID:14660610|PMID:23176821|PMID:25558065|PMID:25741868|PMID:26914923|PMID:26936192|PMID:27292318|PMID:28492532|PMID:28600779|PMID:29034544|PMID:32860008|PMID:33107650|PMID:615030 12197462 CYP2U1 cytochrome P450 family 2 subfamily U member 1 gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:1319774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A PMID:25741868 12197462 CYP2U1 cytochrome P450 family 2 subfamily U member 1 gene DOID:1826 epilepsy ISO RGD:1319774 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12197462 CYP2U1 cytochrome P450 family 2 subfamily U member 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1319774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:14660610|PMID:23176821|PMID:25741868|PMID:28492532|PMID:29034544|PMID:33107650 12197462 CYP2U1 cytochrome P450 family 2 subfamily U member 1 gene DOID:607 paraplegia ISO RGD:1319774 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:14660610|PMID:16199547|PMID:23176821|PMID:25558065|PMID:25741868|PMID:26914923|PMID:26936192|PMID:27292318|PMID:28492532|PMID:28600779|PMID:29034544|PMID:33107650|PMID:615030 12197462 CYP2U1 cytochrome P450 family 2 subfamily U member 1 gene DOID:630 genetic disease ISO RGD:1319774 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23176821|PMID:25741868|PMID:26936192|PMID:27292318|PMID:28492532|PMID:33107650 12197462 CYP2U1 cytochrome P450 family 2 subfamily U member 1 gene DOID:9001715 3-Hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:1319774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of 3-hydroxyacyl-CoA dehydrogenase PMID:28492532 12197462 CYP2U1 cytochrome P450 family 2 subfamily U member 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1319774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12197462 CYP2U1 cytochrome P450 family 2 subfamily U member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1319774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:23176821|PMID:25558065|PMID:25741868|PMID:28492532|PMID:28600779|PMID:29034544 12197474 GJB6 gap junction protein beta 6 gene DOID:0050563 nonsyndromic deafness ISO RGD:1349249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:11807148|PMID:12917317|PMID:14571368|PMID:14681039|PMID:15994881|PMID:19047647|PMID:22098503|PMID:23303923|PMID:24158611|PMID:25741868|PMID:28823936|PMID:30311386 12197474 GJB6 gap junction protein beta 6 gene DOID:0110253 cataract 14 multiple types ISO RGD:1349249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 12197474 GJB6 gap junction protein beta 6 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1349249 D RGD:7240710 20180130 OMIM 12197474 GJB6 gap junction protein beta 6 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1349249 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 PMID:10610709|PMID:11017065|PMID:11807148|PMID:11896458|PMID:12172394|PMID:12419304|PMID:12788524|PMID:12885339|PMID:14571368|PMID:14708603|PMID:15213106|PMID:15638823|PMID:15769851|PMID:15994881|PMID:16547895|PMID:16950989|PMID:17041943|PMID:17259707|PMID:17666888|PMID:18324688|PMID:19723508|PMID:20536673|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23863883|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24514865|PMID:24522190|PMID:24685692|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27137747|PMID:27480936|PMID:27817781|PMID:28492532|PMID:29771057|PMID:31589614 12197474 GJB6 gap junction protein beta 6 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1349249 D RGD:7240710 20180130 OMIM 12197474 GJB6 gap junction protein beta 6 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1349249 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:10610709|PMID:11017065|PMID:11807148|PMID:11896458|PMID:12172394|PMID:12419304|PMID:12788524|PMID:12885339|PMID:14571368|PMID:14708603|PMID:15213106|PMID:15638823|PMID:15769851|PMID:15994881|PMID:16547895|PMID:16950989|PMID:17041943|PMID:17259707|PMID:17666888|PMID:18324688|PMID:19723508|PMID:20536673|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23863883|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24514865|PMID:24522190|PMID:24685692|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27137747|PMID:27480936|PMID:27817781|PMID:28492532|PMID:29771057|PMID:31589614 12197474 GJB6 gap junction protein beta 6 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1349249 D RGD:7240710 20180130 OMIM 12197474 GJB6 gap junction protein beta 6 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1349249 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:10471490|PMID:10610709|PMID:11017065|PMID:11807148|PMID:11896458|PMID:12419304|PMID:12788524|PMID:14708603|PMID:15213106|PMID:15769851|PMID:16547895|PMID:16950989|PMID:17259707|PMID:17666888|PMID:19723508|PMID:20536673|PMID:20858605|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23863883|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24514865|PMID:24522190|PMID:24685692|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27137747|PMID:27480936|PMID:27817781|PMID:28492532|PMID:29771057|PMID:31589614 12197474 GJB6 gap junction protein beta 6 gene DOID:0111737 X-linked deafness 2 ISO RGD:1349249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear PMID:11017065|PMID:12419304|PMID:12788524|PMID:14708603|PMID:15213106|PMID:15769851|PMID:20536673|PMID:22106692|PMID:23219093|PMID:23863883|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24514865|PMID:24522190|PMID:24685692|PMID:25741868|PMID:26551294|PMID:27137747|PMID:27817781|PMID:28492532 12197474 GJB6 gap junction protein beta 6 gene DOID:11832 visual epilepsy ISO RGD:621830 D RGD:9068941 20200609 RGD PMID:23149765|REF_RGD_ID:7364770 12197474 GJB6 gap junction protein beta 6 gene DOID:14693 Clouston syndrome ISO RGD:1349249 D RGD:7240710 20191127 OMIM 12197474 GJB6 gap junction protein beta 6 gene DOID:14693 Clouston syndrome ISO RGD:1349249 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia syndrome PMID:10610709|PMID:11017065|PMID:11807148|PMID:11874494|PMID:11896458|PMID:12419304|PMID:12788524|PMID:14708603|PMID:15213106|PMID:15769851|PMID:16547895|PMID:16950989|PMID:17259707|PMID:17666888|PMID:19723508|PMID:20536673|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23863883|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24514865|PMID:24522190|PMID:24685692|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27137747|PMID:27480936|PMID:27817781|PMID:28492532|PMID:29771057|PMID:31589614 12197474 GJB6 gap junction protein beta 6 gene DOID:1824 status epilepticus ISO RGD:621830 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:12359154|REF_RGD_ID:632751 12197474 GJB6 gap junction protein beta 6 gene DOID:2121 ectodermal dysplasia ISO RGD:1349249 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hidrotic Ectodermal Dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:10610709|PMID:11017065|PMID:11807148|PMID:11896458|PMID:12419304|PMID:12788524|PMID:15213106|PMID:15769851|PMID:16950989|PMID:17259707|PMID:19723508|PMID:20536673|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24514865|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27817781|PMID:28492532 12197474 GJB6 gap junction protein beta 6 gene DOID:2121 ectodermal dysplasia ISO RGD:1349249 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hidrotic Ectodermal Dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Recessive PMID:10610709|PMID:11017065|PMID:11807148|PMID:11896458|PMID:12419304|PMID:12788524|PMID:15213106|PMID:15769851|PMID:16950989|PMID:17259707|PMID:19723508|PMID:20536673|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24514865|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27817781|PMID:28492532|PMID:31589614 12197474 GJB6 gap junction protein beta 6 gene DOID:2121 ectodermal dysplasia ISO RGD:1349249 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hidrotic Ectodermal Dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:10610709|PMID:11017065|PMID:11807148|PMID:11896458|PMID:12419304|PMID:12788524|PMID:14708603|PMID:15213106|PMID:15769851|PMID:16547895|PMID:16950989|PMID:17259707|PMID:17666888|PMID:19723508|PMID:20536673|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23863883|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24514865|PMID:24522190|PMID:24685692|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27137747|PMID:27480936|PMID:27817781|PMID:28492532|PMID:29771057|PMID:31589614 12197474 GJB6 gap junction protein beta 6 gene DOID:224 transient cerebral ischemia ISO RGD:621830 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:21718970|REF_RGD_ID:6480433 12197474 GJB6 gap junction protein beta 6 gene DOID:5154 borna disease ISO RGD:621830 D RGD:9068941 20200609 RGD PMID:18538309|REF_RGD_ID:7364785 12197474 GJB6 gap junction protein beta 6 gene DOID:5199 ureteral obstruction ISO RGD:621830 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney: PMID:12644912|REF_RGD_ID:7207847 12197474 GJB6 gap junction protein beta 6 gene DOID:630 genetic disease ISO RGD:1349249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18717672|PMID:28492532 12197474 GJB6 gap junction protein beta 6 gene DOID:9004538 Hearing Loss ISO RGD:1349249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 12197474 GJB6 gap junction protein beta 6 gene DOID:9004756 Brain Hypoxia ISO RGD:621830 D RGD:9068941 20200609 RGD PMID:20034754|REF_RGD_ID:7364784 12197474 GJB6 gap junction protein beta 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621830 D RGD:9068941 20200609 RGD PMID:21567444|REF_RGD_ID:7364783 12197474 GJB6 gap junction protein beta 6 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1349249 D RGD:9068941 20200609 RGD DNA:del::GJB6-D13S1854(human) PMID:23668481|REF_RGD_ID:7364817 12197474 GJB6 gap junction protein beta 6 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1349249 D RGD:9068941 20200609 RGD DNA:del:cds:del(GJB6-D13S1830) PMID:20022641|REF_RGD_ID:7364812 12197474 GJB6 gap junction protein beta 6 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1349249 D RGD:9068941 20200609 RGD DNA:mutations:multiple: PMID:23554706|REF_RGD_ID:7364803 12197474 GJB6 gap junction protein beta 6 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss no_association ISO RGD:1349249 D RGD:9068941 20200609 RGD PMID:21227513|PMID:22186156|REF_RGD_ID:7364891|REF_RGD_ID:7364892 12197490 LYZL4 lysozyme like 4 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1348547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 12197490 LYZL4 lysozyme like 4 gene DOID:630 genetic disease ISO RGD:1348547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197497 SLC27A3 solute carrier family 27 member 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1321607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12197497 SLC27A3 solute carrier family 27 member 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1321607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12197497 SLC27A3 solute carrier family 27 member 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1321607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12197497 SLC27A3 solute carrier family 27 member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1321607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12197497 SLC27A3 solute carrier family 27 member 3 gene DOID:5812 MHC class II deficiency ISO RGD:1321607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12197497 SLC27A3 solute carrier family 27 member 3 gene DOID:630 genetic disease ISO RGD:1321607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197497 SLC27A3 solute carrier family 27 member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12197524 POU3F3 POU class 3 homeobox 3 gene DOID:1059 intellectual disability ISO RGD:1349087 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31303265 12197524 POU3F3 POU class 3 homeobox 3 gene DOID:630 genetic disease ISO RGD:1349087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1565620|PMID:2044958|PMID:31303265 12197524 POU3F3 POU class 3 homeobox 3 gene DOID:8398 osteoarthritis ISO RGD:1349087 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 12197524 POU3F3 POU class 3 homeobox 3 gene DOID:9004310 Snijders Blok-Fisher Syndrome ISO RGD:1349087 D RGD:7240710 20191127 OMIM 12197524 POU3F3 POU class 3 homeobox 3 gene DOID:9004310 Snijders Blok-Fisher Syndrome ISO RGD:1349087 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Snijders blok-fisher syndrome PMID:25741868|PMID:30712878|PMID:31303265 12197524 POU3F3 POU class 3 homeobox 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12197524 POU3F3 POU class 3 homeobox 3 gene DOID:9009154 Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills ISO RGD:1349087 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor language and loss of hand skills PMID:25741868 12197550 RFX4 regulatory factor X4 gene DOID:630 genetic disease ISO RGD:1354416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197582 LIN7A lin-7 homolog A, crumbs cell polarity complex component gene DOID:305 carcinoma ISO RGD:731642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12197582 LIN7A lin-7 homolog A, crumbs cell polarity complex component gene DOID:630 genetic disease ISO RGD:731642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197582 LIN7A lin-7 homolog A, crumbs cell polarity complex component gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12197582 LIN7A lin-7 homolog A, crumbs cell polarity complex component gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12197582 LIN7A lin-7 homolog A, crumbs cell polarity complex component gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12197591 ELF2 E74 like ETS transcription factor 2 gene DOID:630 genetic disease ISO RGD:1321579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197591 ELF2 E74 like ETS transcription factor 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1321579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12197591 ELF2 E74 like ETS transcription factor 2 gene DOID:9009139 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome ISO RGD:1321579 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome PMID:29628936 12197637 ZRANB3 zinc finger RANBP2-type containing 3 gene DOID:0060591 WHIM syndrome 1 ISO RGD:1349256 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 12197637 ZRANB3 zinc finger RANBP2-type containing 3 gene DOID:630 genetic disease ISO RGD:1349256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197665 CFAP58 cilia and flagella associated protein 58 gene DOID:0070311 oligoasthenoteratozoospermia ISO RGD:1621194 D RGD:9068941 20220825 MouseDO 12197665 CFAP58 cilia and flagella associated protein 58 gene DOID:0112271 spermatogenic failure 49 ISO RGD:1317458 D RGD:7240710 20210113 OMIM 12197665 CFAP58 cilia and flagella associated protein 58 gene DOID:0112271 spermatogenic failure 49 ISO RGD:1317458 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 49 PMID:25741868|PMID:32791035 12197665 CFAP58 cilia and flagella associated protein 58 gene DOID:630 genetic disease ISO RGD:1317458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197687 FABP6 fatty acid binding protein 6 gene DOID:630 genetic disease ISO RGD:737077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197694 NEK2 NIMA related kinase 2 gene DOID:0080600 COVID-19 ISO RGD:732517 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12197694 NEK2 NIMA related kinase 2 gene DOID:0110359 retinitis pigmentosa 67 ISO RGD:732517 D RGD:7240710 20180130 OMIM 12197694 NEK2 NIMA related kinase 2 gene DOID:0110359 retinitis pigmentosa 67 ISO RGD:732517 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 67 PMID:16199547|PMID:24033266|PMID:25741868|PMID:28492532 12197694 NEK2 NIMA related kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:732517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12197694 NEK2 NIMA related kinase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28509438 12197694 NEK2 NIMA related kinase 2 gene DOID:630 genetic disease ISO RGD:732517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12197694 NEK2 NIMA related kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:732517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12197694 NEK2 NIMA related kinase 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28509438 12197694 NEK2 NIMA related kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12197706 EFCC1 EF-hand and coiled-coil domain containing 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1602687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12197706 EFCC1 EF-hand and coiled-coil domain containing 1 gene DOID:630 genetic disease ISO RGD:1602687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197706 EFCC1 EF-hand and coiled-coil domain containing 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1602687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 12197706 EFCC1 EF-hand and coiled-coil domain containing 1 gene DOID:9270 alkaptonuria ISO RGD:1602687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12197718 ENDOD1 endonuclease domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1602126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12197718 ENDOD1 endonuclease domain containing 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1602126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12197718 ENDOD1 endonuclease domain containing 1 gene DOID:630 genetic disease ISO RGD:1602126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197723 TAF10 TATA-box binding protein associated factor 10 gene DOID:0050700 cardiomyopathy ISO RGD:1314218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 12197723 TAF10 TATA-box binding protein associated factor 10 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:17576681|PMID:24033266|PMID:25163546|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29915097|PMID:9536098 12197723 TAF10 TATA-box binding protein associated factor 10 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11402068|PMID:11694518|PMID:14745274|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29915097|PMID:30206291|PMID:31983221|PMID:33874732|PMID:34935411|PMID:9536098 12197723 TAF10 TATA-box binding protein associated factor 10 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11402068|PMID:11694518|PMID:14745274|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28492532|PMID:29915097|PMID:30206291|PMID:31983221|PMID:33874732|PMID:34935411|PMID:9536098 12197723 TAF10 TATA-box binding protein associated factor 10 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314218 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532 12197723 TAF10 TATA-box binding protein associated factor 10 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 12197723 TAF10 TATA-box binding protein associated factor 10 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1314218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12197723 TAF10 TATA-box binding protein associated factor 10 gene DOID:2843 long QT syndrome ISO RGD:1314218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12197723 TAF10 TATA-box binding protein associated factor 10 gene DOID:630 genetic disease ISO RGD:1314218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532|PMID:34935411 12197733 ARF4 ADP ribosylation factor 4 gene DOID:630 genetic disease ISO RGD:1352328 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197733 ARF4 ADP ribosylation factor 4 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1352328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 12197751 SERF1A small EDRK-rich factor 1A gene DOID:13938 amenorrhea ISO RGD:1350108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12197751 SERF1A small EDRK-rich factor 1A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12197785 RYR2 ryanodine receptor 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:11159936|PMID:12093772|PMID:12459180|PMID:16769042|PMID:18326664|PMID:19709828|PMID:19926015|PMID:21315846|PMID:22677073|PMID:22787013|PMID:23757202|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24447446|PMID:24558114|PMID:24981977|PMID:25351510|PMID:25467552|PMID:25637381|PMID:25741868|PMID:25925909|PMID:26112015|PMID:26189708|PMID:27646203|PMID:27650965|PMID:28087566|PMID:28150229|PMID:28404607|PMID:28492532|PMID:28771489|PMID:29477366|PMID:29874177|PMID:31112425|PMID:31337358|PMID:31931689|PMID:32233023 12197785 RYR2 ryanodine receptor 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy susceptibility ISO RGD:1317019 D RGD:9068941 20200609 RGD PMID:11159936|REF_RGD_ID:1599243 12197785 RYR2 ryanodine receptor 2 gene DOID:0050451 Brugada syndrome ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 12197785 RYR2 ryanodine receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12837242|PMID:15197150|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15749201|PMID:15887426|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16436635|PMID:16769042|PMID:16843546|PMID:17062961|PMID:17558603|PMID:17576681|PMID:18092949|PMID:18326664|PMID:18752142|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19926015|PMID:20157052|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23595086|PMID:23651034|PMID:23757202|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25351510|PMID:25440180|PMID:25467552|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27538377|PMID:27650965|PMID:27727376|PMID:27756708|PMID:27854218|PMID:27930701|PMID:28074886|PMID:28100344|PMID:28125075|PMID:28150229|PMID:28166811|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28686619|PMID:28697927|PMID:28771489|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29037160|PMID:29247119|PMID:29368431|PMID:29396286|PMID:29434162|PMID:29453246|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29874177|PMID:29915097|PMID:30029678|PMID:30086531|PMID:30403697|PMID:30615648|PMID:30670673|PMID:30835254|PMID:30847666|PMID:31112425|PMID:31333075|PMID:31337358|PMID:31535183|PMID:31568572|PMID:31737537|PMID:31847883|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32899693|PMID:9536098 12197785 RYR2 ryanodine receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317019 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy with or without skeletal myopathy PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12837242|PMID:15197150|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15749201|PMID:15887426|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16436635|PMID:16769042|PMID:16818210|PMID:16843546|PMID:17062961|PMID:17558603|PMID:17576681|PMID:18092949|PMID:18326664|PMID:18752142|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19926015|PMID:20157052|PMID:20851825|PMID:21315846|PMID:21478052|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23595086|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25351510|PMID:25440180|PMID:25467552|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27538377|PMID:27650965|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28074886|PMID:28100344|PMID:28125075|PMID:28150229|PMID:28166282|PMID:28166811|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28359509|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28686619|PMID:28697927|PMID:28771489|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29368431|PMID:29396286|PMID:29434162|PMID:29453246|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29874177|PMID:30086531|PMID:30403697|PMID:30835254|PMID:30847666|PMID:31112425|PMID:31333075|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31847883|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:34088380|PMID:9536098 12197785 RYR2 ryanodine receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Hypokinetic non-dilated cardiomyopathy PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12459180|PMID:12837242|PMID:15197150|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15749201|PMID:15887426|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16436635|PMID:16769042|PMID:16818210|PMID:16843546|PMID:17062961|PMID:17558603|PMID:17576681|PMID:18092949|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20132818|PMID:20157052|PMID:20851825|PMID:21315846|PMID:21478052|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25351510|PMID:25370123|PMID:25440180|PMID:25467552|PMID:25500949|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26771585|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27435932|PMID:27452199|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29037160|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915097|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30029678|PMID:30086531|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30670673|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31231889|PMID:31333075|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31535183|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31847883|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32165824|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33658040|PMID:33664309|PMID:33825858|PMID:33897349|PMID:33919104|PMID:34088380|PMID:34546463|PMID:35353122|PMID:35819174|PMID:35932045|PMID:9536098 12197785 RYR2 ryanodine receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317019 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12459180|PMID:12837242|PMID:15197150|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15749201|PMID:15887426|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16436635|PMID:16769042|PMID:16818210|PMID:16843546|PMID:17062961|PMID:17558603|PMID:17576681|PMID:18092949|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20132818|PMID:20157052|PMID:20851825|PMID:21315846|PMID:21478052|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25351510|PMID:25370123|PMID:25440180|PMID:25467552|PMID:25500949|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26771585|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27435932|PMID:27452199|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29037160|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915097|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30029678|PMID:30086531|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30670673|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31231889|PMID:31333075|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31535183|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31847883|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33658040|PMID:33664309|PMID:33825858|PMID:33897349|PMID:33919104|PMID:34088380|PMID:34546463|PMID:35353122|PMID:35819174|PMID:35932045|PMID:9536098 12197785 RYR2 ryanodine receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317019 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:15197150|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16339485|PMID:16436635|PMID:16769042|PMID:16818210|PMID:16843546|PMID:17062961|PMID:17558603|PMID:17576681|PMID:18092949|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20080988|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25351510|PMID:25370123|PMID:25440180|PMID:25467552|PMID:25500949|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26771585|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27435932|PMID:27452199|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29037160|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544603|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915097|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30029678|PMID:30086531|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30670673|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31019283|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31195250|PMID:31231889|PMID:31333075|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31535183|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31847883|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33658040|PMID:33664309|PMID:33789662|PMID:33825858|PMID:33897349|PMID:33919104|PMID:34088380|PMID:34546463|PMID:35353122|PMID:35668055|PMID:35819174|PMID:35932045|PMID:9536098 12197785 RYR2 ryanodine receptor 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1317019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21151189 12197785 RYR2 ryanodine receptor 2 gene DOID:0060319 cardiac arrest ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest 12197785 RYR2 ryanodine receptor 2 gene DOID:0060480 left ventricular noncompaction ISO RGD:1317019 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:18752142|PMID:19926015|PMID:23022705|PMID:24025405|PMID:24033266|PMID:24631775|PMID:25741868|PMID:27538377|PMID:28404607|PMID:28492532 12197785 RYR2 ryanodine receptor 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317019 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Catecholamine-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:11157710|PMID:11159936|PMID:11208676|PMID:11389482|PMID:12093772|PMID:12106942|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15197150|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16843546|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18752142|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20106799|PMID:20157052|PMID:20851825|PMID:20961976|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21645850|PMID:21652165|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22068070|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23479668|PMID:23549275|PMID:23595086|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23973953|PMID:23978697|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24147812|PMID:24394973|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24728420|PMID:24743769|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25440180|PMID:25445213|PMID:25467552|PMID:25554238|PMID:25616645|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25713214|PMID:25741868|PMID:25814417|PMID:25820315|PMID:25835811|PMID:25844899|PMID:25925909|PMID:26018045|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28166282|PMID:28166811|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28359509|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28771489|PMID:28798025|PMID:28807990|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29368431|PMID:29396286|PMID:29434162|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29874177|PMID:29951146|PMID:30086531|PMID:30197081|PMID:30403697|PMID:30453078|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31112425|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33536282|PMID:33686871|PMID:33825858|PMID:34088380|PMID:9536098 12197785 RYR2 ryanodine receptor 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Catecholamine-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:11389482|PMID:12093772|PMID:12106942|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15197150|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16843546|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20646679|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21645850|PMID:21652165|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22068070|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23479668|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23973953|PMID:23978697|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24147812|PMID:24394973|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24728420|PMID:24743769|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25445213|PMID:25467552|PMID:25554238|PMID:25616645|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25820315|PMID:25835811|PMID:25844899|PMID:25901278|PMID:25925909|PMID:26018045|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27838126|PMID:27854218|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28166282|PMID:28166811|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28359509|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29874177|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30086531|PMID:30197081|PMID:30355031|PMID:30403697|PMID:30453078|PMID:30471092|PMID:30615648|PMID:30696458|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31057083|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31231889|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31539150|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33536282|PMID:33686871|PMID:33825858|PMID:33919104|PMID:34088380|PMID:34546463|PMID:35353122|PMID:35470680|PMID:35819174|PMID:9536098 12197785 RYR2 ryanodine receptor 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholamine-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:11389482|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16339485|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20080988|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20646679|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21645850|PMID:21659649|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22383456|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23479668|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23978697|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24394973|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24728420|PMID:24743769|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25445213|PMID:25467552|PMID:25554238|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25835811|PMID:25844899|PMID:25901278|PMID:25925909|PMID:26018045|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27838126|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30197081|PMID:30355031|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31231889|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31539150|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:31931689|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32165824|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33825858|PMID:33919104|PMID:34088380|PMID:34546463|PMID:34730774|PMID:35353122|PMID:35470680|PMID:35819174|PMID:35932045|PMID:9536098 12197785 RYR2 ryanodine receptor 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317019 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:11389482|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16339485|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20080988|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20646679|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21645850|PMID:21659649|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22383456|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23479668|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23978697|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24394973|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24728420|PMID:24743769|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25445213|PMID:25467552|PMID:25554238|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25835811|PMID:25844899|PMID:25901278|PMID:25925909|PMID:26018045|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27838126|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30197081|PMID:30355031|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31231889|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31539150|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:31931689|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33825858|PMID:33919104|PMID:34088380|PMID:34546463|PMID:34730774|PMID:35353122|PMID:35470680|PMID:35819174|PMID:35932045|PMID:9536098 12197785 RYR2 ryanodine receptor 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317019 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:11389482|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16339485|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20080988|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20646679|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21270786|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21645850|PMID:21659649|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22383456|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23479668|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23978697|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24394973|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24728420|PMID:24743769|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25445213|PMID:25467552|PMID:25554238|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25835811|PMID:25844899|PMID:25901278|PMID:25925909|PMID:25974703|PMID:26018045|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27838126|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29543670|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30197081|PMID:30355031|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31231889|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31539150|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:31931689|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33825858|PMID:33919104|PMID:34088380|PMID:34546463|PMID:34730774|PMID:35353122|PMID:35470680|PMID:35819174|PMID:35932045|PMID:9536098 12197785 RYR2 ryanodine receptor 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317019 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:11389482|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16339485|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20080988|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20646679|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21645850|PMID:21659649|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22383456|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23479668|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23978697|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24394973|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24728420|PMID:24743769|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25445213|PMID:25467552|PMID:25554238|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25835811|PMID:25844899|PMID:25901278|PMID:25925909|PMID:26018045|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27838126|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29543670|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30197081|PMID:30355031|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31195250|PMID:31231889|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31539150|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:31931689|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33789662|PMID:33825858|PMID:33919104|PMID:34088380|PMID:34546463|PMID:34691145|PMID:34730774|PMID:35353122|PMID:35470680|PMID:35668055|PMID:35819174|PMID:35932045|PMID:9536098 12197785 RYR2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:7240710 20180130 OMIM 12197785 RYR2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15197150|PMID:15466642|PMID:15721128|PMID:15749201|PMID:15890976|PMID:16188589|PMID:16239587|PMID:16272262|PMID:16436635|PMID:16769042|PMID:16843546|PMID:16873551|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18752142|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19926015|PMID:20106799|PMID:20157052|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22222782|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23098067|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23595086|PMID:23810894|PMID:23820649|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25092222|PMID:25163546|PMID:25194972|PMID:25351510|PMID:25467552|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26899768|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28100344|PMID:28125075|PMID:28150229|PMID:28166811|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28492532|PMID:28567303|PMID:28620067|PMID:28807990|PMID:28988457|PMID:29247119|PMID:29396286|PMID:29434162|PMID:29453246|PMID:29511324|PMID:29544605|PMID:29874177|PMID:30086531|PMID:30403697|PMID:30835254|PMID:30847666|PMID:31112425|PMID:31337358|PMID:31402444|PMID:31847883|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32899693|PMID:9536098 12197785 RYR2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15197150|PMID:15466642|PMID:15721128|PMID:15749201|PMID:15890976|PMID:16188589|PMID:16239587|PMID:16272262|PMID:16436635|PMID:16769042|PMID:16843546|PMID:16873551|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18752142|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19926015|PMID:20106799|PMID:20157052|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22222782|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23595086|PMID:23810894|PMID:23820649|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25092222|PMID:25163546|PMID:25194972|PMID:25351510|PMID:25467552|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26899768|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28100344|PMID:28125075|PMID:28150229|PMID:28166811|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28620067|PMID:28807990|PMID:28988457|PMID:29396286|PMID:29453246|PMID:29511324|PMID:29544605|PMID:29874177|PMID:29951146|PMID:30086531|PMID:30403697|PMID:30835254|PMID:30847666|PMID:31112425|PMID:31337358|PMID:31402444|PMID:31847883|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32746448|PMID:32899693|PMID:33686871|PMID:9536098 12197785 RYR2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15197150|PMID:15466642|PMID:15721128|PMID:15749201|PMID:15890976|PMID:16188589|PMID:16239587|PMID:16272262|PMID:16436635|PMID:16769042|PMID:16843546|PMID:16873551|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18752142|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19926015|PMID:20106799|PMID:20157052|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22221940|PMID:22222782|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23810894|PMID:23820649|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25092222|PMID:25163546|PMID:25194972|PMID:25351510|PMID:25467552|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26899768|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28100344|PMID:28125075|PMID:28150229|PMID:28166811|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28620067|PMID:28807990|PMID:28988457|PMID:29396286|PMID:29434162|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29874177|PMID:29951146|PMID:30086531|PMID:30403697|PMID:30835254|PMID:30847666|PMID:31112425|PMID:31337358|PMID:31402444|PMID:31847883|PMID:31875585|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33686871|PMID:9536098 12197785 RYR2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15197150|PMID:15466642|PMID:15721128|PMID:15749201|PMID:15890976|PMID:16188589|PMID:16239587|PMID:16272262|PMID:16436635|PMID:16769042|PMID:16843546|PMID:16873551|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18752142|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19926015|PMID:20106799|PMID:20157052|PMID:20301466|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22221940|PMID:22222782|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23810894|PMID:23820649|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25092222|PMID:25163546|PMID:25194972|PMID:25351510|PMID:25467552|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26899768|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28100344|PMID:28125075|PMID:28150229|PMID:28166811|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28620067|PMID:28807990|PMID:28988457|PMID:29396286|PMID:29434162|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29874177|PMID:29951146|PMID:30086531|PMID:30403697|PMID:30835254|PMID:30847666|PMID:31112425|PMID:31337358|PMID:31402444|PMID:31847883|PMID:31875585|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33686871|PMID:9536098 12197785 RYR2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15197150|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15890976|PMID:16188589|PMID:16239587|PMID:16272262|PMID:16436635|PMID:16769042|PMID:16843546|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18752142|PMID:18849218|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:1992601|PMID:19926015|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22677073|PMID:22787013|PMID:22956155|PMID:23022705|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23671135|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25440180|PMID:25467552|PMID:25554238|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25741868|PMID:25814417|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26498160|PMID:26656175|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27251404|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27756708|PMID:27838126|PMID:27854218|PMID:27930701|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28166811|PMID:28191890|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28620067|PMID:28771489|PMID:28789916|PMID:28798025|PMID:28807990|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29434162|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29568272|PMID:29874177|PMID:29951146|PMID:30086531|PMID:30355031|PMID:30403697|PMID:30615648|PMID:30696458|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31057083|PMID:31112425|PMID:31231889|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31931689|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33536282|PMID:33686871|PMID:33919104|PMID:9536098 12197785 RYR2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15175054|PMID:15197150|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16339485|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16843546|PMID:16873551|PMID:17062961|PMID:17556193|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18483626|PMID:18752142|PMID:18836296|PMID:18849218|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19330009|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:1992601|PMID:19926015|PMID:20080988|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20646679|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21126784|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21652165|PMID:21659649|PMID:21768539|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22383456|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:22956155|PMID:23022705|PMID:23098067|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23934111|PMID:23973953|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24113177|PMID:24136861|PMID:24147812|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24793461|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25467552|PMID:25500949|PMID:25554238|PMID:25616645|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25820315|PMID:25844899|PMID:25901278|PMID:25925909|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26256814|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26573135|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27251404|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27838126|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28191890|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28789916|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29037160|PMID:29132927|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29543670|PMID:29544603|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29668588|PMID:29766881|PMID:29874177|PMID:29915097|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30029678|PMID:30086531|PMID:30197081|PMID:30296944|PMID:30355031|PMID:30403697|PMID:30453078|PMID:30471092|PMID:30615648|PMID:30670673|PMID:30696458|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31019283|PMID:31057083|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31195250|PMID:31231889|PMID:31333075|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31535183|PMID:31539150|PMID:31568572|PMID:31624606|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:31931689|PMID:31970460|PMID:32009526 12197785 RYR2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32516855|PMID:32746448|PMID:32899693|PMID:33325730|PMID:33500567|PMID:33536282|PMID:33658040|PMID:33664309|PMID:33686871|PMID:33789662|PMID:33825858|PMID:33897349|PMID:33919104|PMID:34088380|PMID:34546463|PMID:34691145|PMID:34730774|PMID:35353122|PMID:35470680|PMID:35668055|PMID:35819174|PMID:35932045|PMID:8589694|PMID:9536098 12197785 RYR2 ryanodine receptor 2 gene DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 ISO RGD:1317019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 12197785 RYR2 ryanodine receptor 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1317019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:19216760|PMID:19926015|PMID:20132818|PMID:23861362|PMID:24033266|PMID:25041964|PMID:25163546|PMID:25650408|PMID:25741868|PMID:25925909|PMID:26656175|PMID:27054166|PMID:27930701|PMID:28341588|PMID:28404607|PMID:28492532|PMID:29032884|PMID:30847666|PMID:32152366 12197785 RYR2 ryanodine receptor 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:12459180|PMID:19216760|PMID:19926015|PMID:20132818|PMID:22787013|PMID:23861362|PMID:24033266|PMID:25041964|PMID:25163546|PMID:25650408|PMID:25741868|PMID:25925909|PMID:26656175|PMID:27054166|PMID:27646203|PMID:27756708|PMID:27930701|PMID:28341588|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29350269|PMID:29477366|PMID:30847666|PMID:32152366 12197785 RYR2 ryanodine receptor 2 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1317019 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:25637381|PMID:25741868|PMID:28404607|PMID:28492532|PMID:30847666 12197785 RYR2 ryanodine receptor 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:25741868 12197785 RYR2 ryanodine receptor 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:12459180|PMID:19216760|PMID:19926015|PMID:20132818|PMID:22787013|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25741868|PMID:26656175|PMID:27054166|PMID:27646203|PMID:27930701|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29350269|PMID:29477366 12197785 RYR2 ryanodine receptor 2 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 12197785 RYR2 ryanodine receptor 2 gene DOID:0110428 dilated cardiomyopathy 1AA ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:28492532 12197785 RYR2 ryanodine receptor 2 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:26132555|PMID:28492532 12197785 RYR2 ryanodine receptor 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:25741868|PMID:28492532 12197785 RYR2 ryanodine receptor 2 gene DOID:114 heart disease ISO RGD:1317019 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart disease PMID:17576681|PMID:25741868|PMID:28404607|PMID:28492532|PMID:9536098 12197785 RYR2 ryanodine receptor 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:12459180|PMID:18752142|PMID:19926015|PMID:22787013|PMID:23022705|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24631775|PMID:25041964|PMID:25650408|PMID:25741868|PMID:25925909|PMID:26656175|PMID:27054166|PMID:27538377|PMID:27646203|PMID:27930701|PMID:28404607|PMID:28492532|PMID:29350269|PMID:29453246|PMID:29477366|PMID:31155924|PMID:31513939|PMID:32508047 12197785 RYR2 ryanodine receptor 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17576681|PMID:19926015|PMID:23861362|PMID:24033266|PMID:25163546|PMID:25650408|PMID:25741868|PMID:27930701|PMID:28404607|PMID:28492532|PMID:29453246|PMID:31333075|PMID:31568572|PMID:9536098 12197785 RYR2 ryanodine receptor 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317019 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:24033266|PMID:25163546|PMID:25650408|PMID:25741868|PMID:25925909|PMID:27930701|PMID:28341588|PMID:28404607|PMID:28492532|PMID:29453246|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32152366 12197785 RYR2 ryanodine receptor 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317019 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17576681|PMID:23861362|PMID:24033266|PMID:25163546|PMID:25650408|PMID:25741868|PMID:25925909|PMID:27930701|PMID:28341588|PMID:28404607|PMID:28492532|PMID:29453246|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32152366|PMID:32746448|PMID:9536098 12197785 RYR2 ryanodine receptor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12197785 RYR2 ryanodine receptor 2 gene DOID:1682 congenital heart disease ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:28492532 12197785 RYR2 ryanodine receptor 2 gene DOID:1790 malignant mesothelioma ISO RGD:1317019 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 12197785 RYR2 ryanodine receptor 2 gene DOID:2843 long QT syndrome ISO RGD:1317019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:11159936|PMID:15364606|PMID:15364613|PMID:16239587|PMID:19926015|PMID:21616285|PMID:22221940|PMID:22373669|PMID:22374134|PMID:22787013|PMID:22828895|PMID:23595086|PMID:23871484|PMID:24033266|PMID:25351510|PMID:25440180|PMID:25554238|PMID:25741868|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26704558|PMID:26743238|PMID:27452199|PMID:27930701|PMID:28404607|PMID:28422759|PMID:28449774|PMID:28492532 12197785 RYR2 ryanodine receptor 2 gene DOID:2843 long QT syndrome ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:11159936|PMID:15364606|PMID:15364613|PMID:16239587|PMID:19398665|PMID:19926015|PMID:21616285|PMID:22221940|PMID:22373669|PMID:22374134|PMID:22787013|PMID:22828895|PMID:23595086|PMID:23871484|PMID:24033266|PMID:25351510|PMID:25440180|PMID:25554238|PMID:25741868|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26256814|PMID:26704558|PMID:26743238|PMID:27452199|PMID:27930701|PMID:28404607|PMID:28422759|PMID:28449774|PMID:28492532|PMID:31112425 12197785 RYR2 ryanodine receptor 2 gene DOID:2843 long QT syndrome ISO RGD:1317019 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:11159936|PMID:15364606|PMID:15364613|PMID:16239587|PMID:19398665|PMID:19926015|PMID:21616285|PMID:22221940|PMID:22373669|PMID:22374134|PMID:22787013|PMID:22828895|PMID:23595086|PMID:23871484|PMID:24033266|PMID:25351510|PMID:25440180|PMID:25554238|PMID:25741868|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26256814|PMID:26704558|PMID:26743238|PMID:27452199|PMID:27930701|PMID:28404607|PMID:28422759|PMID:28449774|PMID:28492532|PMID:29543670|PMID:31112425|PMID:32152366 12197785 RYR2 ryanodine receptor 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1317019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:24033266|PMID:24558114|PMID:25041964|PMID:25351510|PMID:25467552|PMID:25637381|PMID:25741868|PMID:25925909|PMID:26383259|PMID:28150229|PMID:28404607|PMID:28492532|PMID:29453246|PMID:29874177|PMID:30615648|PMID:30847666|PMID:31112425|PMID:31114860|PMID:31337358|PMID:32048431|PMID:32233023 12197785 RYR2 ryanodine receptor 2 gene DOID:6000 congestive heart failure ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868|PMID:28492532 12197785 RYR2 ryanodine receptor 2 gene DOID:630 genetic disease ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12093772|PMID:16272262|PMID:17576681|PMID:18752142|PMID:19398665|PMID:19926015|PMID:21126784|PMID:21292648|PMID:21616285|PMID:23022705|PMID:23595086|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24136861|PMID:24631775|PMID:25041964|PMID:25554238|PMID:25741868|PMID:26114861|PMID:27538377|PMID:28202948|PMID:28404607|PMID:28492532|PMID:28606196|PMID:29453246|PMID:31402444|PMID:9536098 12197785 RYR2 ryanodine receptor 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1317019 D RGD:7240710 20210526 OMIM 12197785 RYR2 ryanodine receptor 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1317019 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:12093772|PMID:12459180|PMID:17576681|PMID:17984046|PMID:19216760|PMID:19926015|PMID:20132818|PMID:23396983|PMID:23671135|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:25775566|PMID:25925909|PMID:26189708|PMID:26688388|PMID:27153395|PMID:27229459|PMID:27532257|PMID:27538377|PMID:27646203|PMID:28237968|PMID:28404607|PMID:28492532|PMID:28600387|PMID:28798025|PMID:29032884|PMID:29368431|PMID:29453246|PMID:29477366|PMID:29544605|PMID:30615648|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31112425|PMID:31195250|PMID:31513939|PMID:33536282|PMID:33789662|PMID:33919104|PMID:35668055|PMID:9536098 12197785 RYR2 ryanodine receptor 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1317019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:12106942|PMID:12459180|PMID:15544015|PMID:17062961|PMID:19926015|PMID:21616285|PMID:22221940|PMID:22373669|PMID:22374134|PMID:22787013|PMID:23549275|PMID:23871484|PMID:24025405|PMID:24033266|PMID:25087098|PMID:25193700|PMID:25440180|PMID:25741868|PMID:26153920|PMID:26743238|PMID:27114410|PMID:27452199|PMID:27538377|PMID:27646203|PMID:28158428|PMID:28422759|PMID:28449774|PMID:28492532|PMID:29477366 12197785 RYR2 ryanodine receptor 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction | ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 12197785 RYR2 ryanodine receptor 2 gene DOID:9000727 Syncope ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syncope 12197785 RYR2 ryanodine receptor 2 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:19926015|PMID:21964171|PMID:23204524|PMID:23396983|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24055113|PMID:25163546|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26899768|PMID:27153395|PMID:27231019|PMID:27538377|PMID:27930701|PMID:28404607|PMID:28492532|PMID:28771489|PMID:31539150|PMID:31737537|PMID:32152366|PMID:32508047|PMID:32746448|PMID:33500567|PMID:35932045 12197785 RYR2 ryanodine receptor 2 gene DOID:9002554 Tachycardia ISO RGD:1317019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15749201 12197785 RYR2 ryanodine receptor 2 gene DOID:9002554 Tachycardia ISO RGD:1317019 D RGD:9068941 20200609 RGD PMID:8589694|REF_RGD_ID:1578810 12197785 RYR2 ryanodine receptor 2 gene DOID:9002914 Familial Sudden Death ISO RGD:1317019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31913406 12197785 RYR2 ryanodine receptor 2 gene DOID:9003163 Heart Block ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:19926015|PMID:21964171|PMID:23204524|PMID:23396983|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24055113|PMID:25163546|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26899768|PMID:27153395|PMID:27231019|PMID:27538377|PMID:27930701|PMID:28404607|PMID:28492532|PMID:28771489|PMID:31539150|PMID:31737537|PMID:32152366|PMID:32508047|PMID:32746448|PMID:33500567|PMID:35932045 12197785 RYR2 ryanodine receptor 2 gene DOID:9003631 Diastolic Dysfunction ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diastolic dysfunction PMID:25741868|PMID:28492532 12197785 RYR2 ryanodine receptor 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1317019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:26656175|PMID:27054166|PMID:28404607|PMID:28492532|PMID:30403697|PMID:30471092|PMID:34088380 12197785 RYR2 ryanodine receptor 2 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1317019 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 12197785 RYR2 ryanodine receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620314 D RGD:9068941 20200609 RGD PMID:17027851|REF_RGD_ID:1599247 12197785 RYR2 ryanodine receptor 2 gene DOID:9006030 Infant Death ISO RGD:1317019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Death in infancy PMID:19926015|PMID:20157052|PMID:22374134|PMID:22515980|PMID:22677073|PMID:23861362|PMID:24025405|PMID:24033266|PMID:25370123|PMID:25741868|PMID:27435932|PMID:27538377|PMID:28125075|PMID:28404607|PMID:28492532|PMID:28567303|PMID:29396286|PMID:30403697|PMID:30835254|PMID:32152366 12197785 RYR2 ryanodine receptor 2 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:1317019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16685413 12197785 RYR2 ryanodine receptor 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1317019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12197785 RYR2 ryanodine receptor 2 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:1317019 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Polymorphic ventricular tachycardia PMID:11159936|PMID:12106942|PMID:12459180|PMID:15131021|PMID:15364606|PMID:15364613|PMID:15544015|PMID:16188589|PMID:16239587|PMID:16391617|PMID:16517285|PMID:16769042|PMID:16818210|PMID:17062961|PMID:18326664|PMID:19398665|PMID:19541610|PMID:19709828|PMID:19913485|PMID:19926015|PMID:20106799|PMID:20961976|PMID:21315846|PMID:21616285|PMID:21659649|PMID:22221940|PMID:22373669|PMID:22374134|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23286974|PMID:23549275|PMID:23595086|PMID:23671135|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24136861|PMID:24503780|PMID:25087098|PMID:25193700|PMID:25440180|PMID:25637381|PMID:25741868|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26332594|PMID:26743238|PMID:27114410|PMID:27452199|PMID:27538377|PMID:27646203|PMID:28158428|PMID:28237968|PMID:28404607|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28600387|PMID:28798025|PMID:29434162|PMID:29453246|PMID:29477366|PMID:29543670|PMID:29555771|PMID:29925740|PMID:30197081|PMID:30847666|PMID:31112425|PMID:31737537|PMID:32009526|PMID:32152366|PMID:33825858 12197785 RYR2 ryanodine receptor 2 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 12197785 RYR2 ryanodine receptor 2 gene DOID:9007820 Sudden Death ISO RGD:1317019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sudden death | ClinVar Annotator: match by term: Sudden unexplained death PMID:12459180|PMID:22787013|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25741868|PMID:26656175|PMID:27054166|PMID:27646203|PMID:27930701|PMID:28404607|PMID:28492532|PMID:29350269|PMID:29477366|PMID:31513939 12197785 RYR2 ryanodine receptor 2 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1317019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death PMID:12459180|PMID:22787013|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25741868|PMID:26656175|PMID:27054166|PMID:27646203|PMID:27930701|PMID:28404607|PMID:28492532|PMID:29350269|PMID:29477366|PMID:30615648 12197785 RYR2 ryanodine receptor 2 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:1317019 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:24033266|PMID:25741868|PMID:28404607|PMID:28492532 12197785 RYR2 ryanodine receptor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12197907 CHST10 carbohydrate sulfotransferase 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1353236 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12197907 CHST10 carbohydrate sulfotransferase 10 gene DOID:630 genetic disease ISO RGD:1353236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197923 PPID peptidylprolyl isomerase D gene DOID:11372 megacolon ISO RGD:1342741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12197923 PPID peptidylprolyl isomerase D gene DOID:2316 brain ischemia ISO RGD:1553037 D RGD:9068941 20200609 RGD PMID:16103352|REF_RGD_ID:1580699 12197923 PPID peptidylprolyl isomerase D gene DOID:630 genetic disease ISO RGD:1342741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197937 MTA2 metastasis associated 1 family member 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1315535 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12197937 MTA2 metastasis associated 1 family member 2 gene DOID:1059 intellectual disability ISO RGD:1315535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12197937 MTA2 metastasis associated 1 family member 2 gene DOID:289 endometriosis ISO RGD:1315535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12197937 MTA2 metastasis associated 1 family member 2 gene DOID:630 genetic disease ISO RGD:1315535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197937 MTA2 metastasis associated 1 family member 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:1315536 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12197962 TKT transketolase gene DOID:2384 Wernicke encephalopathy ISO RGD:732645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3762968 12197962 TKT transketolase gene DOID:305 carcinoma ISO RGD:732645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12197962 TKT transketolase gene DOID:630 genetic disease ISO RGD:732645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12197962 TKT transketolase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:732645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12197962 TKT transketolase gene DOID:9002669 Hypoxia ISO RGD:732645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 12197962 TKT transketolase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15654357 12197962 TKT transketolase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12197962 TKT transketolase gene DOID:9008862 Short Stature, Developmental Delay, and Congenital Heart Defects ISO RGD:732645 D RGD:7240710 20190315 OMIM 12197962 TKT transketolase gene DOID:9008862 Short Stature, Developmental Delay, and Congenital Heart Defects ISO RGD:732645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transketolase deficiency PMID:25741868|PMID:27259054|PMID:28492532 12197979 CEP57 centrosomal protein 57 gene DOID:0080141 mosaic variegated aneuploidy syndrome 1 ISO RGD:1602500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 PMID:12116237|PMID:21552266|PMID:24259107|PMID:25741868|PMID:28492532|PMID:30010053 12197979 CEP57 centrosomal protein 57 gene DOID:0080142 mosaic variegated aneuploidy syndrome 2 ISO RGD:1602500 D RGD:7240710 20180130 OMIM 12197979 CEP57 centrosomal protein 57 gene DOID:0080142 mosaic variegated aneuploidy syndrome 2 ISO RGD:1602500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 2 PMID:12116237|PMID:16199547|PMID:17576681|PMID:21552266|PMID:24259107|PMID:25741868|PMID:28492532|PMID:30010053|PMID:9536098 12197979 CEP57 centrosomal protein 57 gene DOID:0080688 mosaic variegated aneuploidy syndrome ISO RGD:1602500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 12197979 CEP57 centrosomal protein 57 gene DOID:1059 intellectual disability ISO RGD:1602500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12197979 CEP57 centrosomal protein 57 gene DOID:12704 ataxia telangiectasia ISO RGD:1602500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12197979 CEP57 centrosomal protein 57 gene DOID:630 genetic disease ISO RGD:1602500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12198004 U2SURP U2 snRNP associated SURP domain containing gene DOID:630 genetic disease ISO RGD:4892414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198004 U2SURP U2 snRNP associated SURP domain containing gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:4892414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12198040 GTF2H3 general transcription factor IIH subunit 3 gene DOID:0050777 Joubert syndrome ISO RGD:1313552 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12198040 GTF2H3 general transcription factor IIH subunit 3 gene DOID:630 genetic disease ISO RGD:1313552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198058 CSNK1G1 casein kinase 1 gamma 1 gene DOID:0110935 nemaline myopathy 6 ISO RGD:733469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12198058 CSNK1G1 casein kinase 1 gamma 1 gene DOID:2717 Bloom syndrome ISO RGD:733469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12198058 CSNK1G1 casein kinase 1 gamma 1 gene DOID:630 genetic disease ISO RGD:733469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198058 CSNK1G1 casein kinase 1 gamma 1 gene DOID:9256 colorectal cancer ISO RGD:733469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12198084 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0050439 Usher syndrome ISO RGD:1318161 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:14740321|PMID:15671307|PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24154662|PMID:25133751|PMID:25404053|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27575413|PMID:28041643|PMID:28492532|PMID:29099798|PMID:30029497|PMID:30311386|PMID:30459346|PMID:30976395|PMID:31736247|PMID:32467589|PMID:32581362|PMID:33089500|PMID:33297549 12198084 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0050439 Usher syndrome ISO RGD:1318161 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:14740321|PMID:15671307|PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24154662|PMID:25133751|PMID:25404053|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27575413|PMID:28041643|PMID:28492532|PMID:29099798|PMID:30029497|PMID:30311386|PMID:30459346|PMID:31736247|PMID:32037395|PMID:32467589|PMID:32581362|PMID:33089500|PMID:33297549|PMID:35813073 12198084 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0050439 Usher syndrome ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:14740321|PMID:15671307|PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24154662|PMID:25133751|PMID:25404053|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27575413|PMID:28041643|PMID:28492532|PMID:29099798|PMID:30029497|PMID:30311386|PMID:30459346|PMID:30718709|PMID:31047384|PMID:31736247|PMID:32037395|PMID:32467589|PMID:32581362|PMID:33089500|PMID:33297549|PMID:35813073 12198084 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0050439 Usher syndrome ISO RGD:1318161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:14740321|PMID:15671307|PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24154662|PMID:25133751|PMID:25404053|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27575413|PMID:28041643|PMID:28492532|PMID:29099798|PMID:30029497|PMID:30311386|PMID:30459346|PMID:30718709|PMID:31047384|PMID:31456290|PMID:31736247|PMID:31980526|PMID:32037395|PMID:32420686|PMID:32467589|PMID:32581362|PMID:33089500|PMID:33297549|PMID:35813073 12198084 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:28492532|PMID:28951997|PMID:30303587 12198084 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1318161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 12198084 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318161 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12198084 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0110826 Usher syndrome type 1 ISO RGD:1318161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:21569298|PMID:24033266|PMID:28492532 12198084 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0110827 Usher syndrome type 2 ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2 PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24123792|PMID:25741868|PMID:26226137|PMID:28492532|PMID:29924869|PMID:30245029|PMID:30718709|PMID:31047384|PMID:31456290|PMID:31980526|PMID:32037395|PMID:32467589 12198084 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0110838 Usher syndrome type 2A ISO RGD:1318161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A 12198084 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0110839 Usher syndrome type 2C ISO RGD:1318161 D RGD:7240710 20180130 OMIM 12198084 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0110839 Usher syndrome type 2C ISO RGD:1318161 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic PMID:10234513|PMID:14740321|PMID:15671307|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18854872|PMID:19357116|PMID:19357117|PMID:20440071|PMID:21569298|PMID:21946352|PMID:22135276|PMID:22147658|PMID:22334370|PMID:22952768|PMID:23441107|PMID:23767834|PMID:23934111|PMID:23967202|PMID:24033266|PMID:24123792|PMID:24154662|PMID:24498627|PMID:25133751|PMID:25262649|PMID:25324289|PMID:25333064|PMID:25404053|PMID:25412400|PMID:25468891|PMID:25741868|PMID:25741869|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26467025|PMID:26667666|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27108799|PMID:27460420|PMID:27575413|PMID:27884173|PMID:28041643|PMID:28492532|PMID:29142287|PMID:29261713|PMID:29907799|PMID:30029497|PMID:30180840|PMID:30245029|PMID:30311386|PMID:30718709|PMID:31046701|PMID:31047384|PMID:32037395|PMID:32420686|PMID:32467589|PMID:32707200|PMID:32747562|PMID:32860008|PMID:32962041|PMID:33089500|PMID:33105617|PMID:35802133|PMID:35813073|PMID:36633841|PMID:9536098 12198084 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0111305 familial febrile seizures 4 ISO RGD:1318161 D RGD:7240710 20180130 OMIM 12198084 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0111305 familial febrile seizures 4 ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CONVULSIONS, FAMILIAL FEBRILE, 4 | ClinVar Annotator: match by term: Febrile seizures, familial, 4 PMID:12402266|PMID:14740321|PMID:15671307|PMID:16199547|PMID:18414213|PMID:19357117|PMID:22135276|PMID:22147658|PMID:22334370|PMID:24033266|PMID:24498627|PMID:25333064|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26467025|PMID:27575413|PMID:28041643|PMID:28492532|PMID:30180840|PMID:30311386|PMID:30718709|PMID:31047384|PMID:32467589 12198084 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:0111307 familial febrile seizures 1 ISO RGD:1318161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial, 1 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12198084 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:10584 retinitis pigmentosa ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:25741868|PMID:26226137|PMID:26667666|PMID:28492532|PMID:30029497|PMID:30718709|PMID:32467589 12198084 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:1826 epilepsy ISO RGD:1318161 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:18414213|PMID:24033266|PMID:28492532 12198084 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:22135276|PMID:24033266|PMID:24123792|PMID:28492532|PMID:30245029 12198084 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:3633 beta-mannosidosis ISO RGD:1318161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:28492532|PMID:30311386 12198084 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:630 genetic disease ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12198084 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:8501 fundus dystrophy ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:23462753|PMID:24033266|PMID:24154662|PMID:25133751|PMID:25404053|PMID:25412400|PMID:25741868|PMID:26226137|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27460420|PMID:28041643|PMID:28492532|PMID:30029497|PMID:30311386|PMID:30718709|PMID:31047384|PMID:31456290|PMID:31980526|PMID:32037395|PMID:32467589|PMID:32581362 12198084 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:9001128 Usher Syndrome, Type 2B ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 2B PMID:14740321|PMID:15671307|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:25333064|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:27460420|PMID:27575413|PMID:28041643|PMID:28492532|PMID:30311386|PMID:30718709|PMID:31047384|PMID:32467589 12198084 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12198084 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:9004538 Hearing Loss ISO RGD:1318161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:25741868|PMID:26226137|PMID:26467025|PMID:26667666|PMID:27460420|PMID:28157192|PMID:28492532|PMID:30029497|PMID:30311386|PMID:30718709|PMID:32467589 12198084 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:9004538 Hearing Loss ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:25741868|PMID:26226137|PMID:26467025|PMID:27460420|PMID:28157192|PMID:28492532|PMID:30311386|PMID:30718709|PMID:31047384|PMID:32467589 12198084 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318161 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12198084 ADGRV1 adhesion G protein-coupled receptor V1 gene DOID:9849 Meniere's disease ISO RGD:1318161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12198177 CPEB4 cytoplasmic polyadenylation element binding protein 4 gene DOID:10762 portal hypertension ISO RGD:1323642 D RGD:9068941 20200609 RGD protein:increased expression:mesentary PMID:26627607|REF_RGD_ID:11528851 12198177 CPEB4 cytoplasmic polyadenylation element binding protein 4 gene DOID:10762 portal hypertension treatment ISO RGD:1323643 D RGD:9068941 20200609 RGD PMID:26627607|REF_RGD_ID:11528851 12198177 CPEB4 cytoplasmic polyadenylation element binding protein 4 gene DOID:12236 primary biliary cholangitis ISO RGD:1323642 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:26627607|REF_RGD_ID:11528851 12198177 CPEB4 cytoplasmic polyadenylation element binding protein 4 gene DOID:5082 liver cirrhosis ISO RGD:1323642 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic; protein:increased expression:liver PMID:26627607|REF_RGD_ID:11528851 12198177 CPEB4 cytoplasmic polyadenylation element binding protein 4 gene DOID:630 genetic disease ISO RGD:1323642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198197 PRPF39 pre-mRNA processing factor 39 gene DOID:13636 Fanconi anemia ISO RGD:1318626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29895858|PMID:30075111 12198197 PRPF39 pre-mRNA processing factor 39 gene DOID:630 genetic disease ISO RGD:1318626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198197 PRPF39 pre-mRNA processing factor 39 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1318626 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12198233 TOMM7 translocase of outer mitochondrial membrane 7 gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1317904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 12198233 TOMM7 translocase of outer mitochondrial membrane 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12198233 TOMM7 translocase of outer mitochondrial membrane 7 gene DOID:630 genetic disease ISO RGD:1317904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198233 TOMM7 translocase of outer mitochondrial membrane 7 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317904 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 12198240 ADAMTSL4 ADAMTS like 4 gene DOID:0111148 isolated ectopia lentis ISO RGD:1351069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated ectopia lentis PMID:19200529|PMID:22736615|PMID:24033266 12198240 ADAMTSL4 ADAMTS like 4 gene DOID:0111149 autosomal recessive isolated ectopia lentis 2 ISO RGD:1351069 D RGD:7240710 20180130 OMIM 12198240 ADAMTSL4 ADAMTS like 4 gene DOID:0111149 autosomal recessive isolated ectopia lentis 2 ISO RGD:1351069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectopia lentis 2, isolated, autosomal recessive PMID:17576681|PMID:19200529|PMID:20141359|PMID:2056446|PMID:20564469|PMID:20702823|PMID:21051722|PMID:22736615|PMID:22871183|PMID:23426735|PMID:2377351|PMID:24033266|PMID:25741868|PMID:25975359|PMID:28394649|PMID:28492532|PMID:28642162|PMID:31837199|PMID:9536098 12198240 ADAMTSL4 ADAMTS like 4 gene DOID:0111648 ectopia lentis with ectopia of pupil ISO RGD:1351069 D RGD:7240710 20180130 OMIM 12198240 ADAMTSL4 ADAMTS like 4 gene DOID:0111648 ectopia lentis with ectopia of pupil ISO RGD:1351069 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectopia lentis et pupillae PMID:2056446|PMID:20564469|PMID:20702823|PMID:21051722|PMID:22736615|PMID:22871183|PMID:23426735|PMID:24033266|PMID:24802351|PMID:25741868|PMID:25741879|PMID:25975359|PMID:26653794|PMID:28394649|PMID:28492532|PMID:28642162 12198240 ADAMTSL4 ADAMTS like 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1351069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12198240 ADAMTSL4 ADAMTS like 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1351069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12198240 ADAMTSL4 ADAMTS like 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1351069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12198240 ADAMTSL4 ADAMTS like 4 gene DOID:110 lens disease ISO RGD:1557679 D RGD:9068941 20220825 MouseDO 12198240 ADAMTSL4 ADAMTS like 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1351069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12198240 ADAMTSL4 ADAMTS like 4 gene DOID:5812 MHC class II deficiency ISO RGD:1351069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12198240 ADAMTSL4 ADAMTS like 4 gene DOID:630 genetic disease ISO RGD:1351069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12198240 ADAMTSL4 ADAMTS like 4 gene DOID:9000218 Craniosynostosis with Ectopia Lentis ISO RGD:1351069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniosynostosis with ectopia lentis PMID:17576681|PMID:2056446|PMID:20564469|PMID:20702823|PMID:21051722|PMID:22736615|PMID:22871183|PMID:24033266|PMID:25741868|PMID:25975359|PMID:28492532|PMID:28642162|PMID:9536098 12198240 ADAMTSL4 ADAMTS like 4 gene DOID:9004201 Ectopia Lentis ISO RGD:1351069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectopia lentis PMID:2056446|PMID:20564469|PMID:20702823|PMID:21051722|PMID:22736615|PMID:22871183|PMID:24033266|PMID:25741868|PMID:25975359|PMID:28492532|PMID:28642162 12198240 ADAMTSL4 ADAMTS like 4 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1351069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 12198240 ADAMTSL4 ADAMTS like 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12198262 ANKRD50 ankyrin repeat domain containing 50 gene DOID:630 genetic disease ISO RGD:1603620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198262 ANKRD50 ankyrin repeat domain containing 50 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12198271 SAMD3 sterile alpha motif domain containing 3 gene DOID:630 genetic disease ISO RGD:1322660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198284 FZR1 fizzy and cell division cycle 20 related 1 gene DOID:12849 autistic disorder ISO RGD:1318646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12198284 FZR1 fizzy and cell division cycle 20 related 1 gene DOID:630 genetic disease ISO RGD:1318646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198284 FZR1 fizzy and cell division cycle 20 related 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12198284 FZR1 fizzy and cell division cycle 20 related 1 gene DOID:9005779 Polyploidy ISO RGD:1318646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25123929 12198284 FZR1 fizzy and cell division cycle 20 related 1 gene DOID:9006979 Developmental and Epileptic Encephalopathy 109 ISO RGD:1318646 D RGD:7240710 20221214 OMIM 12198284 FZR1 fizzy and cell division cycle 20 related 1 gene DOID:9006979 Developmental and Epileptic Encephalopathy 109 ISO RGD:1318646 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 109 PMID:31318984|PMID:34788397 12198284 FZR1 fizzy and cell division cycle 20 related 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1318646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:0050860 colorectal adenoma severity ISO RGD:1606586 D RGD:9068941 20220303 RGD DNA:SNPs:intron, CDS: (rs927650), (rs35051736) (human) PMID:26241700|REF_RGD_ID:11521055 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:0050860 colorectal adenoma treatment ISO RGD:1606586 D RGD:9068941 20220505 RGD DNA:SNP:CDS: (rs2296241) (human) PMID:27978548|REF_RGD_ID:152025254 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1606586 D RGD:9068941 20220317 RGD DNA:SNPs:enhancers: (rs6013897, rs158552, rs17217119) (human) PMID:28009432|REF_RGD_ID:151665179 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1606586 D RGD:9068941 20220324 RGD DNA:SNP:exon: (rs2296241) (human) PMID:22612324|REF_RGD_ID:151665337 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606586 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:737342 D RGD:9068941 20220421 RGD PMID:22982628|REF_RGD_ID:151708740 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:1074 kidney failure ISO RGD:1606586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8164439 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:11476 osteoporosis ISO RGD:1606586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22337913 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:12678 hypercalcemia ISO RGD:1606586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22337913 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:1324 lung cancer ISO RGD:1606586 D RGD:9068941 20220303 RGD mRNA:increased expression:lung (human) PMID:16180015|REF_RGD_ID:151361183 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:1324 lung cancer sexual_dimorphism ISO RGD:1606586 D RGD:9068941 20220324 RGD DNA:SNP:intron: (rs2765934) (human) PMID:31264381|REF_RGD_ID:151665340 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:1993 rectum cancer susceptibility ISO RGD:1606586 D RGD:9068941 20220324 RGD DNA:SNP:intron: (rs6022999) (human) PMID:31740231|REF_RGD_ID:151665338 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:219 colon cancer ISO RGD:1606586 D RGD:9068941 20220303 RGD mRNA:increased expression:colon (human) PMID:16180015|REF_RGD_ID:151361183 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:219 colon cancer susceptibility ISO RGD:1606586 D RGD:9068941 20220317 RGD DNA:SNP:intron: IVS4-66T>G, (rs4809958) (human) PMID:19706847|REF_RGD_ID:151665174 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:219 colon cancer susceptibility ISO RGD:1606586 D RGD:9068941 20220317 RGD DNA:SNPs:multiple (human) PMID:28811712|REF_RGD_ID:151665177 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:219 colon cancer susceptibility ISO RGD:1606586 D RGD:9068941 20220324 RGD DNA:SNPs:introns: (rs4809960, rs6022999) (human) PMID:31740231|REF_RGD_ID:151665338 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:234 colon adenocarcinoma ISO RGD:1606586 D RGD:9068941 20220317 RGD mRNA:increased expression:colonic mucosa (human) PMID:27793774|REF_RGD_ID:151665173 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:234 colon adenocarcinoma ISO RGD:1606586 D RGD:9068941 20220407 RGD mRNA:increased expression:colon (human) PMID:33791222|REF_RGD_ID:151665790 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:3459 breast carcinoma ISO RGD:1606586 D RGD:9068941 20220303 RGD mRNA:decreased expression:breast (human) PMID:16180015|REF_RGD_ID:151361183 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:3713 ovary adenocarcinoma ISO RGD:1606586 D RGD:9068941 20220303 RGD mRNA:increased expression:ovary (human) PMID:16180015|REF_RGD_ID:151361183 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1606586 D RGD:9068941 20220331 RGD DNA:SNP:CDS: (rs2296241) (human) PMID:28362172|REF_RGD_ID:151665500 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:3905 lung carcinoma susceptibility ISO RGD:1606586 D RGD:9068941 20220407 RGD DNA:SNP:3' utr: (rs4809957) (human) PMID:22797725|REF_RGD_ID:151665791 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1606586 D RGD:9068941 20220421 RGD RNA:increased expression:lung (human) PMID:17671213|REF_RGD_ID:151708738 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1606586 D RGD:9068941 20220303 RGD DNA:SNP:intron 4: (rs3787554) (human) PMID:23435876|REF_RGD_ID:151361182 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1606586 D RGD:9068941 20220303 RGD mRNA:increased expression:lung (human) PMID:21169243|PMID:29250167|REF_RGD_ID:151361179|REF_RGD_ID:151361185 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1606586 D RGD:9068941 20220317 RGD DNA:SNP:exon, intron: (rs6068816, rs2181874) (human) PMID:27669215|REF_RGD_ID:151665175 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1606586 D RGD:9068941 20220407 RGD DNA:SNPs:CDS, 3' utr: (rs6068816, rs4809957) (human) PMID:25544771|REF_RGD_ID:151665789 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1606586 D RGD:9068941 20220421 RGD DNA:SNPs:multiple (human) PMID:29726119|REF_RGD_ID:151708739 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1606586 D RGD:9068941 20220303 RGD DNA:hypomethylation:promoter (human) PMID:24736069|REF_RGD_ID:151361181 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1606586 D RGD:9068941 20220317 RGD human cell line in a mouse model PMID:27793774|REF_RGD_ID:151665173 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1606586 D RGD:9068941 20220331 RGD mRNA:decreased expression:lung (human) PMID:25519225|REF_RGD_ID:151665499 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:4914 esophagus adenocarcinoma treatment ISO RGD:1606586 D RGD:9068941 20220317 RGD mRNA:increased expression:esophagus (human) PMID:30187205|REF_RGD_ID:151665176 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1606586 D RGD:9068941 20220303 RGD protein:increased expression:intrahepatic bile, extrahepatic bile duct (human) PMID:23375797|REF_RGD_ID:151361187 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:5041 esophageal cancer ameliorates ISO RGD:1606586 D RGD:9068941 20220505 RGD RNA:decreased expression:esophagus (human) PMID:14760115|REF_RGD_ID:152025255 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:1606586 D RGD:9068941 20220324 RGD DNA:SNP:CDS: (rs6068816) (human) PMID:31264381|REF_RGD_ID:151665340 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:585 nephrolithiasis ISO RGD:1606586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22337913 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1606586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:8577 ulcerative colitis susceptibility ISO RGD:1606586 D RGD:9068941 20220317 RGD DNA:SNPs:multiple (human) PMID:28811712|REF_RGD_ID:151665177 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9001738 Hypercalciuria ISO RGD:1606586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22337913 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:1606586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9004271 Colonic Polyps susceptibility ISO RGD:1606586 D RGD:9068941 20220317 RGD DNA:SNPs:multiple (human) PMID:28811712|REF_RGD_ID:151665177 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9004831 Colitis-Associated Neoplasms treatment ISO RGD:737342 D RGD:9068941 20220324 RGD PMID:31877961|REF_RGD_ID:151665341 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1606586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22797725 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9005216 Infantile Hypercalcemia ISO RGD:1606586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile hypercalcemia 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9006743 Spasm ISO RGD:1606586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle spasm PMID:21675912|PMID:22047571|PMID:23001465|PMID:23485543|PMID:24518185|PMID:25194629|PMID:25446019|PMID:25741868|PMID:26097993|PMID:26117226|PMID:27394135|PMID:27798933|PMID:28470390|PMID:28492532|PMID:3490596 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9007094 Hypercalcemia, Infantile, 1 ISO RGD:1606586 D RGD:7240710 20180704 OMIM 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9007094 Hypercalcemia, Infantile, 1 ISO RGD:1606586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypercalcemia, infantile, 1 PMID:19961857|PMID:21675912|PMID:22047571|PMID:22100522|PMID:22112808|PMID:23001465|PMID:23293122|PMID:23423976|PMID:23470222|PMID:23485543|PMID:24033266|PMID:24518185|PMID:25194629|PMID:25375986|PMID:25446019|PMID:25741868|PMID:26097993|PMID:26117226|PMID:26214117|PMID:26846157|PMID:27394135|PMID:27798933|PMID:28109821|PMID:28470390|PMID:28492532|PMID:32375123|PMID:33952337|PMID:3490596 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1606586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16280049 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9256 colorectal cancer ISO RGD:1606586 D RGD:9068941 20220317 RGD mRNA:increased expression:colorectal mucosa (human) PMID:23463632|PMID:24213465|REF_RGD_ID:151361180|REF_RGD_ID:151665178 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9256 colorectal cancer ISO RGD:1606586 D RGD:9068941 20220324 RGD mRNA:increased expression:colorectum (human) PMID:26997443|REF_RGD_ID:11526316 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9256 colorectal cancer ISO RGD:1606586 D RGD:9068941 20220331 RGD circRNA:increased expression:colorectum (human) PMID:32803502|REF_RGD_ID:151665496 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1606586 D RGD:9068941 20220407 RGD mRNA:increased expression:colon (human) PMID:26260259|REF_RGD_ID:151665788 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9256 colorectal cancer severity ISO RGD:1606586 D RGD:9068941 20220324 RGD DNA:SNP:intron: (rs2765934) (human) PMID:28821819|REF_RGD_ID:151665339 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:1606586 D RGD:9068941 20220303 RGD mRNA:splice variants:colorectal mucosa (human) PMID:20398751|REF_RGD_ID:151361186 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1606586 D RGD:9068941 20220317 RGD DNA:SNP:intron: (rs4809960) (human) PMID:31802707|REF_RGD_ID:151665172 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1606586 D RGD:9068941 20220331 RGD DNA:missense mutation:CDS: (rs6022990) (human) PMID:24562971|REF_RGD_ID:151665501 12198305 CYP24A1 cytochrome P450 family 24 subfamily A member 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1606586 D RGD:9068941 20220421 RGD DNA:SNP:enhancer: (rs6013897) (human) PMID:33504116|REF_RGD_ID:151708714 12198321 RNF168 ring finger protein 168 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1347950 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 12198321 RNF168 ring finger protein 168 gene DOID:0090113 Riddle syndrome ISO RGD:1347950 D RGD:7240710 20180130 OMIM 12198321 RNF168 ring finger protein 168 gene DOID:0090113 Riddle syndrome ISO RGD:1347950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RIDDLE syndrome PMID:19203578|PMID:21394101|PMID:24033266|PMID:25741868|PMID:28492532 12198321 RNF168 ring finger protein 168 gene DOID:12849 autistic disorder ISO RGD:1347950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12198321 RNF168 ring finger protein 168 gene DOID:1749 squamous cell carcinoma ISO RGD:1347950 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34873829 12198321 RNF168 ring finger protein 168 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1347950 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34873829 12198321 RNF168 ring finger protein 168 gene DOID:5419 schizophrenia ISO RGD:1347950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12198321 RNF168 ring finger protein 168 gene DOID:630 genetic disease ISO RGD:1347950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12198321 RNF168 ring finger protein 168 gene DOID:9000918 Disease Progression ISO RGD:1347950 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34873829 12198332 NRROS negative regulator of reactive oxygen species gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1602040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 12198332 NRROS negative regulator of reactive oxygen species gene DOID:0111444 progressive myoclonus epilepsy 4 ISO RGD:1602040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome PMID:25741868 12198332 NRROS negative regulator of reactive oxygen species gene DOID:12849 autistic disorder ISO RGD:1602040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12198332 NRROS negative regulator of reactive oxygen species gene DOID:5419 schizophrenia ISO RGD:1602040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12198332 NRROS negative regulator of reactive oxygen species gene DOID:630 genetic disease ISO RGD:1602040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12198332 NRROS negative regulator of reactive oxygen species gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12198332 NRROS negative regulator of reactive oxygen species gene DOID:9006016 SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS ISO RGD:1602040 D RGD:7240710 20200819 OMIM 12198332 NRROS negative regulator of reactive oxygen species gene DOID:9006016 SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS ISO RGD:1602040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, early-onset, with neurodegeneration and brain calcifications PMID:25741868|PMID:28492532|PMID:32100099|PMID:32197075 12198342 EIF4A2 eukaryotic translation initiation factor 4A2 gene DOID:0060575 3MC syndrome 1 ISO RGD:1319448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 12198342 EIF4A2 eukaryotic translation initiation factor 4A2 gene DOID:630 genetic disease ISO RGD:1319448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198342 EIF4A2 eukaryotic translation initiation factor 4A2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1319448 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 12198342 EIF4A2 eukaryotic translation initiation factor 4A2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319448 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12198360 PHKG1 phosphorylase kinase catalytic subunit gamma 1 gene DOID:0050724 PSPH deficiency ISO RGD:731844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency PMID:28492532 12198360 PHKG1 phosphorylase kinase catalytic subunit gamma 1 gene DOID:12849 autistic disorder ISO RGD:731844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12198360 PHKG1 phosphorylase kinase catalytic subunit gamma 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12198360 PHKG1 phosphorylase kinase catalytic subunit gamma 1 gene DOID:630 genetic disease ISO RGD:731844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198384 ADAM15 ADAM metallopeptidase domain 15 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:733223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12198384 ADAM15 ADAM metallopeptidase domain 15 gene DOID:0080600 COVID-19 ISO RGD:733223 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12198384 ADAM15 ADAM metallopeptidase domain 15 gene DOID:0111940 immunodeficiency 42 ISO RGD:733223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12198384 ADAM15 ADAM metallopeptidase domain 15 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:733223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12198384 ADAM15 ADAM metallopeptidase domain 15 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:733223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12198384 ADAM15 ADAM metallopeptidase domain 15 gene DOID:1540 parathyroid carcinoma ISO RGD:733223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12198384 ADAM15 ADAM metallopeptidase domain 15 gene DOID:1793 pancreatic cancer ISO RGD:733223 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas, epithelial cell PMID:17465204|REF_RGD_ID:2325247 12198384 ADAM15 ADAM metallopeptidase domain 15 gene DOID:5812 MHC class II deficiency ISO RGD:733223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12198384 ADAM15 ADAM metallopeptidase domain 15 gene DOID:630 genetic disease ISO RGD:733223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198384 ADAM15 ADAM metallopeptidase domain 15 gene DOID:8398 osteoarthritis ISO RGD:733224 D RGD:9068941 20200609 RGD PMID:15818704|REF_RGD_ID:1559176 12198384 ADAM15 ADAM metallopeptidase domain 15 gene DOID:9004756 Brain Hypoxia ISO RGD:620402 D RGD:9068941 20200609 RGD PMID:22230263|REF_RGD_ID:13703065 12198384 ADAM15 ADAM metallopeptidase domain 15 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12198442 SPTB spectrin beta, erythrocytic gene DOID:0110917 hereditary spherocytosis type 2 ISO RGD:1349727 D RGD:7240710 20180130 OMIM 12198442 SPTB spectrin beta, erythrocytic gene DOID:0110917 hereditary spherocytosis type 2 ISO RGD:1349727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis type 2 PMID:11703334|PMID:1391962|PMID:1498324|PMID:17576681|PMID:19538529|PMID:25525159|PMID:25741868|PMID:26830532|PMID:27292444|PMID:28102861|PMID:28492532|PMID:29572776|PMID:30198572|PMID:31122244|PMID:31126250|PMID:31602632|PMID:31807509|PMID:32436265|PMID:32641076|PMID:7883966|PMID:8667615|PMID:8844207|PMID:9536098|PMID:9714702 12198442 SPTB spectrin beta, erythrocytic gene DOID:11244 neonatal anemia ISO RGD:1349727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9005995 12198442 SPTB spectrin beta, erythrocytic gene DOID:12971 hereditary spherocytosis ISO RGD:1349727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant PMID:19538529|PMID:25741868|PMID:28492532 12198442 SPTB spectrin beta, erythrocytic gene DOID:2373 hereditary elliptocytosis ISO RGD:1349727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Elliptocytosis PMID:19538529|PMID:25741868|PMID:28492532 12198442 SPTB spectrin beta, erythrocytic gene DOID:583 hemolytic anemia ISO RGD:1349727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:25741868 12198442 SPTB spectrin beta, erythrocytic gene DOID:589 congenital hemolytic anemia ISO RGD:1349727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868 12198442 SPTB spectrin beta, erythrocytic gene DOID:630 genetic disease ISO RGD:1349727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12198442 SPTB spectrin beta, erythrocytic gene DOID:9000212 Hereditary Pyropoikilocytosis ISO RGD:1349727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary PMID:25741868 12198442 SPTB spectrin beta, erythrocytic gene DOID:9003801 Elliptocytosis 3 IAGP D RGD:12801476 20210603 OMIA Elliptocytosis, SPTB-related PMID:10590790|PMID:19228356 12198442 SPTB spectrin beta, erythrocytic gene DOID:9003801 Elliptocytosis 3 ISO RGD:1349727 D RGD:7240710 20190315 OMIM 12198442 SPTB spectrin beta, erythrocytic gene DOID:9003801 Elliptocytosis 3 ISO RGD:1349727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL | ClinVar Annotator: match by term: Elliptocytosis 3 PMID:25741868|PMID:28492532|PMID:30198572|PMID:7883966|PMID:8667615|PMID:8844207 12198489 ENTPD7 ectonucleoside triphosphate diphosphohydrolase 7 gene DOID:3652 Leigh disease ISO RGD:1321659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome 12198489 ENTPD7 ectonucleoside triphosphate diphosphohydrolase 7 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1321659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease 12198489 ENTPD7 ectonucleoside triphosphate diphosphohydrolase 7 gene DOID:630 genetic disease ISO RGD:1321659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198506 DIPK1C divergent protein kinase domain 1C gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1353681 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12198506 DIPK1C divergent protein kinase domain 1C gene DOID:630 genetic disease ISO RGD:1353681 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198506 DIPK1C divergent protein kinase domain 1C gene DOID:6420 pulmonary valve stenosis ISO RGD:1353681 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12198506 DIPK1C divergent protein kinase domain 1C gene DOID:8445 intestinal volvulus ISO RGD:1353681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12198506 DIPK1C divergent protein kinase domain 1C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12198506 DIPK1C divergent protein kinase domain 1C gene DOID:9008419 Volvulus Of Midgut ISO RGD:1353681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12198516 OVGP1 oviductal glycoprotein 1 gene DOID:10316 pneumoconiosis ISO RGD:1349339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 12198516 OVGP1 oviductal glycoprotein 1 gene DOID:630 genetic disease ISO RGD:1349339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198548 AP1M2 adaptor related protein complex 1 subunit mu 2 gene DOID:630 genetic disease ISO RGD:1354372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198564 LDLRAP1 low density lipoprotein receptor adaptor protein 1 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1606809 D RGD:7240710 20180130 OMIM 12198564 LDLRAP1 low density lipoprotein receptor adaptor protein 1 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1606809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:11897284|PMID:12016260|PMID:12464675|PMID:12535754|PMID:12788851|PMID:12958143|PMID:14717060|PMID:15485476|PMID:15599766|PMID:16199547|PMID:17576681|PMID:20124734|PMID:21872251|PMID:22157599|PMID:23510778|PMID:24033266|PMID:25647241|PMID:25670367|PMID:25741868|PMID:25911074|PMID:26723464|PMID:27247956|PMID:28353356|PMID:28492532|PMID:28964736|PMID:28965616|PMID:29153781|PMID:29245109|PMID:29396260|PMID:30318064|PMID:31589614|PMID:32041611|PMID:32636080|PMID:32770674|PMID:32878475|PMID:33111339|PMID:33116287|PMID:34037665|PMID:34389451|PMID:34756585|PMID:4351242|PMID:7628519|PMID:9536098 12198564 LDLRAP1 low density lipoprotein receptor adaptor protein 1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1606809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12198564 LDLRAP1 low density lipoprotein receptor adaptor protein 1 gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:1606809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy PMID:21131290|PMID:21670436|PMID:28492532 12198564 LDLRAP1 low density lipoprotein receptor adaptor protein 1 gene DOID:13810 familial hypercholesterolemia ISO RGD:1606809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:11326085|PMID:12016260|PMID:12464675|PMID:12788851|PMID:12958143|PMID:15485476|PMID:16199547|PMID:17576681|PMID:20124734|PMID:21872251|PMID:22157599|PMID:23510778|PMID:24033266|PMID:25647241|PMID:25741868|PMID:25911074|PMID:27247956|PMID:28353356|PMID:28492532|PMID:28965616|PMID:29245109|PMID:30318064|PMID:32041611|PMID:32770674|PMID:33116287|PMID:34037665|PMID:34389451|PMID:4351242|PMID:9536098 12198564 LDLRAP1 low density lipoprotein receptor adaptor protein 1 gene DOID:630 genetic disease ISO RGD:1606809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12198564 LDLRAP1 low density lipoprotein receptor adaptor protein 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1606809 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:11326085|PMID:12464675|PMID:16199547|PMID:25741868|PMID:28492532 12198564 LDLRAP1 low density lipoprotein receptor adaptor protein 1 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:1606809 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia PMID:25741868|PMID:28492532 12198583 SLC24A5 solute carrier family 24 member 5 gene DOID:0050632 oculocutaneous albinism ISO RGD:1321543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:16199547|PMID:23985994|PMID:24033266|PMID:26686029|PMID:28492532 12198583 SLC24A5 solute carrier family 24 member 5 gene DOID:0050633 ocular albinism ISO RGD:1553523 D RGD:9068941 20220825 MouseDO OMIM:300500 12198583 SLC24A5 solute carrier family 24 member 5 gene DOID:0080614 oculocutaneous albinism type VI ISO RGD:1321543 D RGD:7240710 20180130 OMIM 12198583 SLC24A5 solute carrier family 24 member 5 gene DOID:0080614 oculocutaneous albinism type VI ISO RGD:1321543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Albinism, oculocutaneous, type VI PMID:23364476|PMID:23985994|PMID:25741868|PMID:26491832|PMID:26686029|PMID:28492532|PMID:31077556 12198583 SLC24A5 solute carrier family 24 member 5 gene DOID:14323 Marfan syndrome ISO RGD:1321543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:21063442|PMID:25741868|PMID:26787436|PMID:28492532 12198583 SLC24A5 solute carrier family 24 member 5 gene DOID:2717 Bloom syndrome ISO RGD:1321543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12198583 SLC24A5 solute carrier family 24 member 5 gene DOID:630 genetic disease ISO RGD:1321543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23985994|PMID:26686029|PMID:28492532 12198583 SLC24A5 solute carrier family 24 member 5 gene DOID:9001735 Skin/Hair/Eye Pigmentation, Variation In, 4 ISO RGD:1321543 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 4 PMID:16357253|PMID:17999355|PMID:23010199|PMID:25741868|PMID:29025994 12198583 SLC24A5 solute carrier family 24 member 5 gene DOID:9256 colorectal cancer ISO RGD:1321543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12198596 ZFP90 ZFP90 zinc finger protein gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1350266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12198596 ZFP90 ZFP90 zinc finger protein gene DOID:630 genetic disease ISO RGD:1350266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198630 OR10AG1 olfactory receptor family 10 subfamily AG member 1 gene DOID:1059 intellectual disability ISO RGD:1350024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12198630 OR10AG1 olfactory receptor family 10 subfamily AG member 1 gene DOID:630 genetic disease ISO RGD:1350024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198633 RFTN2 raftlin family member 2 gene DOID:630 genetic disease ISO RGD:1316421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198633 RFTN2 raftlin family member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12198649 CDK2 cyclin dependent kinase 2 gene DOID:10283 prostate cancer ISO RGD:1352010 D RGD:9068941 20200609 RGD PMID:16648554|REF_RGD_ID:2293560 12198649 CDK2 cyclin dependent kinase 2 gene DOID:1612 breast cancer disease_progression ISO RGD:1352010 D RGD:9068941 20200609 RGD PMID:18236071|REF_RGD_ID:2293557 12198649 CDK2 cyclin dependent kinase 2 gene DOID:1909 melanoma ISO RGD:1352010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21559390 12198649 CDK2 cyclin dependent kinase 2 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:70486 D RGD:9068941 20200609 RGD PMID:17893107|REF_RGD_ID:2293563 12198649 CDK2 cyclin dependent kinase 2 gene DOID:4450 renal cell carcinoma ISO RGD:1352010 D RGD:9068941 20200609 RGD PMID:16740772|REF_RGD_ID:2293561 12198649 CDK2 cyclin dependent kinase 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29464035 12198649 CDK2 cyclin dependent kinase 2 gene DOID:630 genetic disease ISO RGD:1352010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198649 CDK2 cyclin dependent kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70486 D RGD:9068941 20200609 RGD PMID:16534847|REF_RGD_ID:2289284 12198649 CDK2 cyclin dependent kinase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1352010 D RGD:9068941 20200609 RGD DNA, mRNA:amplification, increased expression:ovary PMID:9426687|REF_RGD_ID:2298989 12198649 CDK2 cyclin dependent kinase 2 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1352010 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:11585414|REF_RGD_ID:2298988 12198649 CDK2 cyclin dependent kinase 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1352010 D RGD:9068941 20200609 RGD mRNA:decreased expression:uterine cervix PMID:18299147|REF_RGD_ID:2296067 12198649 CDK2 cyclin dependent kinase 2 gene DOID:9004265 Endometrioid Carcinomas severity ISO RGD:1352010 D RGD:9068941 20200609 RGD PMID:9673386|REF_RGD_ID:2298990 12198649 CDK2 cyclin dependent kinase 2 gene DOID:9004994 Embryo Loss ISO RGD:1352010 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038060 12198649 CDK2 cyclin dependent kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:70501 D RGD:9068941 20200609 RGD PMID:16924466|REF_RGD_ID:2293558 12198649 CDK2 cyclin dependent kinase 2 gene DOID:9005396 Intimal Hyperplasia treatment ISO RGD:70501 D RGD:9068941 20200609 RGD PMID:8104336|REF_RGD_ID:10448975 12198649 CDK2 cyclin dependent kinase 2 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1352010 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:33727089 12198649 CDK2 cyclin dependent kinase 2 gene DOID:9007479 Habitual Abortions ISO RGD:1352010 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038060 12198649 CDK2 cyclin dependent kinase 2 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:1352010 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:17483252|REF_RGD_ID:2289230 12198649 CDK2 cyclin dependent kinase 2 gene DOID:9008091 Optic Nerve Injuries ISO RGD:70486 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:16723461|REF_RGD_ID:2293567 12198665 FBXL19 F-box and leucine rich repeat protein 19 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1322203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12198665 FBXL19 F-box and leucine rich repeat protein 19 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1322203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 12198665 FBXL19 F-box and leucine rich repeat protein 19 gene DOID:630 genetic disease ISO RGD:1322203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198665 FBXL19 F-box and leucine rich repeat protein 19 gene DOID:8893 psoriasis ISO RGD:1322203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953189 12198665 FBXL19 F-box and leucine rich repeat protein 19 gene DOID:9008 psoriatic arthritis ISO RGD:1322203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953189 12198723 SPON2 spondin 2 gene DOID:1856 cherubism ISO RGD:1352786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12198723 SPON2 spondin 2 gene DOID:630 genetic disease ISO RGD:1352786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198723 SPON2 spondin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 12198723 SPON2 spondin 2 gene DOID:9002514 Neointima ISO RGD:708584 D RGD:9068941 20230427 RGD PMID:25751394|REF_RGD_ID:329328927 12198723 SPON2 spondin 2 gene DOID:9002514 Neointima ISO RGD:731918 D RGD:9068941 20230427 RGD PMID:25751394|REF_RGD_ID:329328927 12198723 SPON2 spondin 2 gene DOID:9006182 Carotid Artery Injuries ISO RGD:731918 D RGD:9068941 20230427 RGD protein:decreased expression:vascular smooth muscle cell carotid artery (mouse) PMID:25751394|REF_RGD_ID:329328927 12198768 TEKT2 tektin 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12198768 TEKT2 tektin 2 gene DOID:630 genetic disease ISO RGD:1322323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198790 OLFML3 olfactomedin like 3 gene DOID:0080690 RASopathy ISO RGD:1322385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12198790 OLFML3 olfactomedin like 3 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1322385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 12198790 OLFML3 olfactomedin like 3 gene DOID:10283 prostate cancer ISO RGD:1322385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12198790 OLFML3 olfactomedin like 3 gene DOID:630 genetic disease ISO RGD:1322385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198790 OLFML3 olfactomedin like 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12198797 GJA8 gap junction protein alpha 8 gene DOID:0060041 autism spectrum disorder ISO RGD:732563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 12198797 GJA8 gap junction protein alpha 8 gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:732563 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: 1q21.1 Deletion | ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome PMID:25741868|PMID:26694549|PMID:28492532 12198797 GJA8 gap junction protein alpha 8 gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:732563 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 12198797 GJA8 gap junction protein alpha 8 gene DOID:0060648 anterior segment dysgenesis ISO RGD:732563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:32499604 12198797 GJA8 gap junction protein alpha 8 gene DOID:0110231 cataract 1 multiple types ISO RGD:732563 D RGD:7240710 20180130 OMIM 12198797 GJA8 gap junction protein alpha 8 gene DOID:0110231 cataract 1 multiple types ISO RGD:732563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 1 multiple types | ClinVar Annotator: match by term: Zonular Pulverulent Cataract PMID:10362609|PMID:10480374|PMID:11846744|PMID:12800976|PMID:14059288|PMID:14627691|PMID:16397066|PMID:16604058|PMID:16611690|PMID:17601931|PMID:17724170|PMID:18003700|PMID:18006672|PMID:18334946|PMID:18334966|PMID:18587493|PMID:19073179|PMID:19126675|PMID:19331825|PMID:19684000|PMID:21174522|PMID:21228318|PMID:21686328|PMID:23508780|PMID:23555834|PMID:23720739|PMID:23734083|PMID:23772370|PMID:24281366|PMID:24535056|PMID:24968223|PMID:25003127|PMID:25260631|PMID:25517998|PMID:25741868|PMID:26694549|PMID:27216975|PMID:27990357|PMID:28392901|PMID:28492532|PMID:29461512|PMID:29464339|PMID:30078984|PMID:30498267|PMID:30928190|PMID:33218330|PMID:33494148|PMID:34101287|PMID:35531093|PMID:9497259 12198797 GJA8 gap junction protein alpha 8 gene DOID:0110233 cataract 27 ISO RGD:732563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14627691 12198797 GJA8 gap junction protein alpha 8 gene DOID:10629 microphthalmia ISO RGD:732563 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25741868 12198797 GJA8 gap junction protein alpha 8 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:732563 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:25741868|PMID:26694549|PMID:28492532 12198797 GJA8 gap junction protein alpha 8 gene DOID:1540 parathyroid carcinoma ISO RGD:732563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12198797 GJA8 gap junction protein alpha 8 gene DOID:5419 schizophrenia ISO RGD:732563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12198797 GJA8 gap junction protein alpha 8 gene DOID:630 genetic disease ISO RGD:732563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19684000|PMID:21686328|PMID:26694549|PMID:27785597|PMID:28455998|PMID:28492532 12198797 GJA8 gap junction protein alpha 8 gene DOID:83 cataract ISO RGD:732563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:18334946|PMID:21228318|PMID:25003127|PMID:25741868|PMID:26694549|PMID:28392901|PMID:28492532|PMID:29464339|PMID:30498267 12198797 GJA8 gap junction protein alpha 8 gene DOID:9003799 Cataract Microcornea Syndrome ISO RGD:732563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract microcornea syndrome PMID:18334946|PMID:21228318|PMID:25003127|PMID:25741868|PMID:26694549|PMID:28392901|PMID:28492532|PMID:29464339|PMID:30498267 12198797 GJA8 gap junction protein alpha 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12198797 GJA8 gap junction protein alpha 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12198814 PPP2R5B protein phosphatase 2 regulatory subunit B'beta gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1353441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12198814 PPP2R5B protein phosphatase 2 regulatory subunit B'beta gene DOID:1059 intellectual disability ISO RGD:1353441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12198814 PPP2R5B protein phosphatase 2 regulatory subunit B'beta gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12198814 PPP2R5B protein phosphatase 2 regulatory subunit B'beta gene DOID:2746 glycogen storage disease V ISO RGD:1353441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12198814 PPP2R5B protein phosphatase 2 regulatory subunit B'beta gene DOID:3070 high grade glioma ISO RGD:1353441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12198814 PPP2R5B protein phosphatase 2 regulatory subunit B'beta gene DOID:630 genetic disease ISO RGD:1353441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12198832 UBXN11 UBX domain protein 11 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:737092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 12198832 UBXN11 UBX domain protein 11 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:737092 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12198832 UBXN11 UBX domain protein 11 gene DOID:1324 lung cancer ISO RGD:737092 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12198832 UBXN11 UBX domain protein 11 gene DOID:5409 lung small cell carcinoma ISO RGD:737092 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 12198832 UBXN11 UBX domain protein 11 gene DOID:630 genetic disease ISO RGD:737092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198832 UBXN11 UBX domain protein 11 gene DOID:684 hepatocellular carcinoma ISO RGD:737092 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 12198860 ACVR1C activin A receptor type 1C gene DOID:0060041 autism spectrum disorder ISO RGD:734123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12198860 ACVR1C activin A receptor type 1C gene DOID:630 genetic disease ISO RGD:734123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198874 AP4M1 adaptor related protein complex 4 subunit mu 1 gene DOID:0110784 hereditary spastic paraplegia 33 ISO RGD:1321015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic tetraparesis PMID:28492532 12198874 AP4M1 adaptor related protein complex 4 subunit mu 1 gene DOID:0110802 hereditary spastic paraplegia 50 ISO RGD:1321015 D RGD:7240710 20180130 OMIM 12198874 AP4M1 adaptor related protein complex 4 subunit mu 1 gene DOID:0110802 hereditary spastic paraplegia 50 ISO RGD:1321015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AP-4 deficiency syndrome | ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 PMID:16199547|PMID:17576681|PMID:18414213|PMID:21937992|PMID:24700674|PMID:25326635|PMID:25496299|PMID:25558065|PMID:25741868|PMID:26077850|PMID:28464862|PMID:28492532|PMID:28832565|PMID:29096665|PMID:29302074|PMID:31230720|PMID:31359954|PMID:32979048|PMID:32989326|PMID:33813722|PMID:34087981|PMID:36371792|PMID:9536098 12198874 AP4M1 adaptor related protein complex 4 subunit mu 1 gene DOID:1059 intellectual disability ISO RGD:1321015 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:18414213|PMID:19481195|PMID:24700674|PMID:25326635|PMID:25496299|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32979048 12198874 AP4M1 adaptor related protein complex 4 subunit mu 1 gene DOID:1059 intellectual disability ISO RGD:1321015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:24700674|PMID:25326635|PMID:25496299|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32979048|PMID:33813722 12198874 AP4M1 adaptor related protein complex 4 subunit mu 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1321015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:16199547|PMID:17576681|PMID:18414213|PMID:24700674|PMID:25326635|PMID:25496299|PMID:25558065|PMID:25741868|PMID:28492532|PMID:28832565|PMID:32979048|PMID:9536098 12198874 AP4M1 adaptor related protein complex 4 subunit mu 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12198874 AP4M1 adaptor related protein complex 4 subunit mu 1 gene DOID:607 paraplegia ISO RGD:1321015 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21937992|PMID:24700674|PMID:25326635|PMID:25496299|PMID:25558065|PMID:25741868|PMID:26077850|PMID:28464862|PMID:28492532|PMID:29096665|PMID:29302074|PMID:31359954|PMID:32979048|PMID:32989326|PMID:36371792 12198874 AP4M1 adaptor related protein complex 4 subunit mu 1 gene DOID:630 genetic disease ISO RGD:1321015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12198874 AP4M1 adaptor related protein complex 4 subunit mu 1 gene DOID:9004446 Alazami-Yuan Syndrome ISO RGD:1321015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alazami-Yuan syndrome PMID:25741868|PMID:28492532 12198874 AP4M1 adaptor related protein complex 4 subunit mu 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1321015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12198874 AP4M1 adaptor related protein complex 4 subunit mu 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1321015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24700674|PMID:25558065|PMID:25741868|PMID:32979048 12198897 ERN2 endoplasmic reticulum to nucleus signaling 2 gene DOID:630 genetic disease ISO RGD:1346348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198923 LHX2 LIM homeobox 2 gene DOID:630 genetic disease ISO RGD:733849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198923 LHX2 LIM homeobox 2 gene DOID:7148 rheumatoid arthritis ISO RGD:733849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 12198932 PHKG2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:732798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12198932 PHKG2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:0111043 glycogen storage disease IXc ISO RGD:732798 D RGD:7240710 20180130 OMIM 12198932 PHKG2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:0111043 glycogen storage disease IXc ISO RGD:732798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar Annotator: match by term: Glycogen storage disease type IXc PMID:10905889|PMID:12930917|PMID:16199547|PMID:17576681|PMID:17689125|PMID:21646031|PMID:22899091|PMID:24102521|PMID:24389071|PMID:25266922|PMID:2558039|PMID:25741868|PMID:27207549|PMID:28492532|PMID:32697758|PMID:6962066|PMID:7562285|PMID:8896567|PMID:9384616|PMID:9536098 12198932 PHKG2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:732798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 12198932 PHKG2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:2747 glycogen storage disease ISO RGD:620024 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D215N (rat) PMID:8896567|REF_RGD_ID:737724 12198932 PHKG2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:2747 glycogen storage disease ISO RGD:732798 D RGD:9068941 20200609 RGD DNA:insertion, missense mutations:multiple (human) PMID:8896567|REF_RGD_ID:737724 12198932 PHKG2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:5082 liver cirrhosis ISO RGD:732798 D RGD:9068941 20200609 RGD DNA:missense mutation, nonsense mutation (human) PMID:9384616|REF_RGD_ID:737725 12198932 PHKG2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:630 genetic disease ISO RGD:732798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12198932 PHKG2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:9000784 Fibrosis ISO RGD:732798 D RGD:9068941 20200609 RGD associated with Glycogen Storage Disease Type Ix;DNA:mutations:multiple (human) PMID:9384616|REF_RGD_ID:737725 12198932 PHKG2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:9000866 Mauriac Syndrome ISO RGD:732798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mauriac syndrome PMID:27207549|PMID:28492532 12198951 CAPN9 calpain 9 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:731611 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 12198951 CAPN9 calpain 9 gene DOID:10534 stomach cancer ISO RGD:731611 D RGD:9068941 20200609 RGD PMID:10835488|REF_RGD_ID:734688 12198951 CAPN9 calpain 9 gene DOID:1540 parathyroid carcinoma ISO RGD:731611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12198951 CAPN9 calpain 9 gene DOID:630 genetic disease ISO RGD:731611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198951 CAPN9 calpain 9 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:731611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 12198951 CAPN9 calpain 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12198974 NAPG NSF attachment protein gamma gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1320824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12198974 NAPG NSF attachment protein gamma gene DOID:1059 intellectual disability ISO RGD:1320824 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12198974 NAPG NSF attachment protein gamma gene DOID:543 dystonia ISO RGD:1320824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 12198974 NAPG NSF attachment protein gamma gene DOID:630 genetic disease ISO RGD:1320824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198991 KPRP keratinocyte proline rich protein gene DOID:0111940 immunodeficiency 42 ISO RGD:1353027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12198991 KPRP keratinocyte proline rich protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1353027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12198991 KPRP keratinocyte proline rich protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1353027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12198991 KPRP keratinocyte proline rich protein gene DOID:10283 prostate cancer ISO RGD:1353027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12198991 KPRP keratinocyte proline rich protein gene DOID:1540 parathyroid carcinoma ISO RGD:1353027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12198991 KPRP keratinocyte proline rich protein gene DOID:5812 MHC class II deficiency ISO RGD:1353027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12198991 KPRP keratinocyte proline rich protein gene DOID:630 genetic disease ISO RGD:1353027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12198991 KPRP keratinocyte proline rich protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12199004 SH3BGRL SH3 domain binding glutamate rich protein like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12199004 SH3BGRL SH3 domain binding glutamate rich protein like gene DOID:12849 autistic disorder ISO RGD:1352415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12199021 APP amyloid beta precursor protein gene DOID:0050700 cardiomyopathy ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29068127 12199021 APP amyloid beta precursor protein gene DOID:0050850 diabetic encephalopathy treatment ISO RGD:2139 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:28885995|REF_RGD_ID:13782056 12199021 APP amyloid beta precursor protein gene DOID:0070027 CST3-related cerebral amyloid angiopathy ISO RGD:736021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cerebral hemorrhage with amyloidosis PMID:25604855|PMID:25741868|PMID:28492532 12199021 APP amyloid beta precursor protein gene DOID:0070028 APP-related cerebral amyloid angiopathy ISO RGD:736021 D RGD:7240710 20180130 OMIM 12199021 APP amyloid beta precursor protein gene DOID:0070028 APP-related cerebral amyloid angiopathy ISO RGD:736021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AMYLOIDOSIS, CEREBROARTERIAL, APP-RELATED | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT | ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related PMID:10441572|PMID:10631141|PMID:10821838|PMID:11004129|PMID:11311152|PMID:11409420|PMID:11441013|PMID:11487570|PMID:11528419|PMID:11568920|PMID:11978821|PMID:12552037|PMID:12654973|PMID:1303172|PMID:1303239|PMID:1303275|PMID:1415269|PMID:14623725|PMID:1520398|PMID:15365148|PMID:15488330|PMID:15502844|PMID:15776278|PMID:16033913|PMID:16178030|PMID:1634237|PMID:1671712|PMID:1674311|PMID:1678057|PMID:1678058|PMID:1679288|PMID:1679289|PMID:16931535|PMID:18413473|PMID:19061884|PMID:1908231|PMID:19225789|PMID:1925564|PMID:19281847|PMID:19363265|PMID:20228223|PMID:20301414|PMID:20523046|PMID:20697050|PMID:2111584|PMID:21210284|PMID:22503161|PMID:23143229|PMID:23224319|PMID:23919771|PMID:24033266|PMID:24524897|PMID:24650794|PMID:24878480|PMID:25138979|PMID:25604855|PMID:25741868|PMID:25948718|PMID:26104569|PMID:26402770|PMID:26467025|PMID:26803359|PMID:27000221|PMID:27838006|PMID:27858710|PMID:28304299|PMID:28350801|PMID:28492532|PMID:29263818|PMID:29459625|PMID:29859640|PMID:30279455|PMID:30868685|PMID:31011484|PMID:32087291|PMID:32908482|PMID:7611715|PMID:8191290|PMID:8290965|PMID:8410047|PMID:8499923|PMID:8513318|PMID:8577393|PMID:8610157|PMID:8649577|PMID:8863158|PMID:8886002|PMID:9328472|PMID:9754958|PMID:9848098 12199021 APP amyloid beta precursor protein gene DOID:0080348 Alzheimer's disease 1 ISO RGD:736021 D RGD:7240710 20181017 OMIM 12199021 APP amyloid beta precursor protein gene DOID:0080348 Alzheimer's disease 1 ISO RGD:736021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: APP POLYMORPHISM | ClinVar Annotator: match by term: Alzheimer disease type 1 | ClinVar Annotator: match by term: Early-onset familial form of Alzheimer disease PMID:10097173|PMID:10441572|PMID:10611368|PMID:10631141|PMID:10821838|PMID:10867787|PMID:11004129|PMID:11063718|PMID:11311152|PMID:11487570|PMID:11528419|PMID:11568920|PMID:11910111|PMID:11978821|PMID:12034808|PMID:12552037|PMID:12707272|PMID:1303172|PMID:1303239|PMID:1303275|PMID:1415269|PMID:14623725|PMID:14769392|PMID:1520398|PMID:15365148|PMID:15488330|PMID:15502844|PMID:15668448|PMID:15776278|PMID:1584464|PMID:16033913|PMID:1634237|PMID:16505331|PMID:1671712|PMID:1674311|PMID:1678057|PMID:1678058|PMID:1679288|PMID:16931535|PMID:17493013|PMID:18187157|PMID:18234110|PMID:18413473|PMID:18437002|PMID:1908231|PMID:1925564|PMID:19281847|PMID:19363265|PMID:1944558|PMID:19950418|PMID:20005601|PMID:20063202|PMID:20301414|PMID:20452985|PMID:20523046|PMID:20634584|PMID:21210284|PMID:21777674|PMID:22503161|PMID:22702962|PMID:23143229|PMID:23224319|PMID:23380992|PMID:23515184|PMID:24033266|PMID:24390130|PMID:24524897|PMID:24650794|PMID:24677022|PMID:24694184|PMID:24880964|PMID:25138979|PMID:25741868|PMID:25948718|PMID:26402770|PMID:26444762|PMID:26467025|PMID:26803359|PMID:26888304|PMID:27777022|PMID:27838006|PMID:28304299|PMID:28350801|PMID:28492532|PMID:29263818|PMID:29459625|PMID:29770843|PMID:29859640|PMID:30045758|PMID:30279455|PMID:31011484|PMID:32087291|PMID:32908482|PMID:7611715|PMID:7686976|PMID:7806491|PMID:7845465|PMID:8154870|PMID:8191290|PMID:8290965|PMID:8410047|PMID:8461968|PMID:8499923|PMID:8513318|PMID:8577393|PMID:8644866|PMID:8649577|PMID:8650548|PMID:8863158|PMID:8886002|PMID:9328472|PMID:9754958|PMID:9848098 12199021 APP amyloid beta precursor protein gene DOID:0081292 traumatic brain injury treatment ISO RGD:736021 D RGD:9068941 20200609 RGD PMID:29320530|REF_RGD_ID:13782048 12199021 APP amyloid beta precursor protein gene DOID:10652 Alzheimer's disease ISO RGD:736021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer disease, early onset | ClinVar Annotator: match by term: Alzheimer disease, protection against | ClinVar Annotator: match by term: Alzheimer's disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease PMID:10441572|PMID:10611368|PMID:10631141|PMID:10821838|PMID:11004129|PMID:11063718|PMID:11311152|PMID:11409420|PMID:11441013|PMID:11487570|PMID:11528419|PMID:11568920|PMID:11735772|PMID:11910111|PMID:11978821|PMID:12034808|PMID:12552037|PMID:12654973|PMID:12707272|PMID:1303172|PMID:1303239|PMID:1303275|PMID:1307241|PMID:1415269|PMID:14623725|PMID:14769392|PMID:1520398|PMID:15365148|PMID:15488330|PMID:15502844|PMID:15776278|PMID:16033913|PMID:1634237|PMID:16369530|PMID:1671712|PMID:1674311|PMID:1678057|PMID:1678058|PMID:1679288|PMID:1679289|PMID:16921174|PMID:16931535|PMID:17576681|PMID:17873282|PMID:18187157|PMID:18234110|PMID:18413473|PMID:19061884|PMID:1908231|PMID:1925564|PMID:19281847|PMID:19286555|PMID:19363265|PMID:20228223|PMID:20301414|PMID:20452985|PMID:20523046|PMID:2111584|PMID:21210284|PMID:22312439|PMID:22491860|PMID:22503161|PMID:22801501|PMID:23143229|PMID:23224319|PMID:23919771|PMID:24033266|PMID:24524897|PMID:24650794|PMID:24680827|PMID:24691562|PMID:24878480|PMID:25104557|PMID:25138979|PMID:25174650|PMID:25604855|PMID:25617006|PMID:25741868|PMID:25948718|PMID:26104569|PMID:26242991|PMID:26402770|PMID:26467025|PMID:26803359|PMID:27000221|PMID:27312774|PMID:27838006|PMID:27858710|PMID:28304299|PMID:28350801|PMID:28492532|PMID:29263818|PMID:29459625|PMID:29859640|PMID:30279455|PMID:30868685|PMID:31011484|PMID:31719132|PMID:32087291|PMID:32345996|PMID:32908482|PMID:32917274|PMID:33268848|PMID:7588622|PMID:7611715|PMID:7633445|PMID:7686976|PMID:7806491|PMID:7845465|PMID:8191290|PMID:8290965|PMID:8291572|PMID:8410047|PMID:8499923|PMID:8513318|PMID:8577393|PMID:8610157|PMID:8649577|PMID:8863158|PMID:8886002|PMID:9328472|PMID:9536098|PMID:9754958|PMID:9848098 12199021 APP amyloid beta precursor protein gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:736021 D RGD:9068941 20200609 RGD PMID:16369530|REF_RGD_ID:1599199 12199021 APP amyloid beta precursor protein gene DOID:10652 Alzheimer's disease treatment ISO RGD:2139 D RGD:9068941 20200609 RGD associated with hypertension PMID:29568075|REF_RGD_ID:13782047 12199021 APP amyloid beta precursor protein gene DOID:10763 hypertension ISO RGD:2139 D RGD:9068941 20200609 RGD PMID:29713228|REF_RGD_ID:13703136 12199021 APP amyloid beta precursor protein gene DOID:10914 amnestic disorder ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12642396 12199021 APP amyloid beta precursor protein gene DOID:11758 iron deficiency anemia ISO RGD:2139 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus: PMID:18723004|REF_RGD_ID:2301196 12199021 APP amyloid beta precursor protein gene DOID:11832 visual epilepsy ISO RGD:736021 D RGD:9068941 20200609 RGD associated with Alzheimer Disease; PMID:25879152|REF_RGD_ID:10054263 12199021 APP amyloid beta precursor protein gene DOID:1289 neurodegenerative disease ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16122394|PMID:23541064 12199021 APP amyloid beta precursor protein gene DOID:1307 dementia ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22300406 12199021 APP amyloid beta precursor protein gene DOID:14261 fragile X syndrome ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22046307 12199021 APP amyloid beta precursor protein gene DOID:1561 cognitive disorder ISO RGD:736021 D RGD:9068941 20200609 RGD PMID:17536186|PMID:19101630|REF_RGD_ID:10054259|REF_RGD_ID:10054262 12199021 APP amyloid beta precursor protein gene DOID:1561 cognitive disorder ISO RGD:736021 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:17406652|PMID:17600377|PMID:21350020|PMID:24189446|PMID:26945731|PMID:32522471 12199021 APP amyloid beta precursor protein gene DOID:2030 anxiety disorder ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19664757 12199021 APP amyloid beta precursor protein gene DOID:319 spinal cord disease ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11800653 12199021 APP amyloid beta precursor protein gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2139 D RGD:9068941 20200609 RGD PMID:28963051|REF_RGD_ID:13782054 12199021 APP amyloid beta precursor protein gene DOID:630 genetic disease ISO RGD:736021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12199021 APP amyloid beta precursor protein gene DOID:824 periodontitis ISO RGD:736021 D RGD:9068941 20200609 RGD mRNA:increased expression:gingiva PMID:28285126|REF_RGD_ID:13801025 12199021 APP amyloid beta precursor protein gene DOID:8725 vascular dementia ISO RGD:736021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:22312439|PMID:25104557|PMID:25174650|PMID:25604855|PMID:26242991|PMID:26467025|PMID:27312774|PMID:28492532|PMID:33268848 12199021 APP amyloid beta precursor protein gene DOID:8927 learning disability ISO RGD:736021 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:16474004|PMID:18533140|PMID:20816828|PMID:22484447|PMID:25213453|PMID:26420483|PMID:27306655|PMID:29729307|PMID:35247505 12199021 APP amyloid beta precursor protein gene DOID:9000412 Presenile and Senile Dementia ISO RGD:736021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Presenile and senile dementia PMID:10821838|PMID:11004129|PMID:11311152|PMID:11409420|PMID:11441013|PMID:11528419|PMID:12654973|PMID:1303239|PMID:1303275|PMID:1415269|PMID:15365148|PMID:15488330|PMID:15502844|PMID:1679289|PMID:18413473|PMID:19061884|PMID:19363265|PMID:20228223|PMID:20301414|PMID:2111584|PMID:23143229|PMID:23224319|PMID:23919771|PMID:24033266|PMID:24524897|PMID:24650794|PMID:24878480|PMID:25741868|PMID:25948718|PMID:26104569|PMID:26402770|PMID:26467025|PMID:26803359|PMID:27000221|PMID:27858710|PMID:28304299|PMID:28350801|PMID:28492532|PMID:29263818|PMID:29459625|PMID:29859640|PMID:30279455|PMID:30868685|PMID:31011484|PMID:32087291|PMID:32908482|PMID:8499923|PMID:8610157|PMID:9754958|PMID:9848098 12199021 APP amyloid beta precursor protein gene DOID:9000998 Brain Injuries ISO RGD:736021 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:16300758|REF_RGD_ID:10054281 12199021 APP amyloid beta precursor protein gene DOID:9001020 Eye Manifestations ISO RGD:736021 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:35247505 12199021 APP amyloid beta precursor protein gene DOID:9001111 Blast Injuries ISO RGD:2139 D RGD:9068941 20200609 RGD PMID:24224042|REF_RGD_ID:10054251 12199021 APP amyloid beta precursor protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12199021 APP amyloid beta precursor protein gene DOID:9001579 Neurogenic Inflammation ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20816828|PMID:25288670 12199021 APP amyloid beta precursor protein gene DOID:9002644 Premature Aging ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23129026 12199021 APP amyloid beta precursor protein gene DOID:9002720 Splenomegaly ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27117003 12199021 APP amyloid beta precursor protein gene DOID:9002775 Cognitive Dysfunction ISO RGD:2139 D RGD:9068941 20200609 RGD associated with Chronic Cerebral Hypoperfusion PMID:28836062|REF_RGD_ID:13782057 12199021 APP amyloid beta precursor protein gene DOID:9002775 Cognitive Dysfunction ISO RGD:2139 D RGD:9068941 20200609 RGD associated with Sleep Deprivation PMID:28455102|REF_RGD_ID:13782059 12199021 APP amyloid beta precursor protein gene DOID:9002775 Cognitive Dysfunction ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25288670 12199021 APP amyloid beta precursor protein gene DOID:9002955 Nerve Degeneration ISO RGD:736021 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:11784781|PMID:11800653|PMID:12396081|PMID:12963085|PMID:16951259|PMID:17600377|PMID:19631677|PMID:20111991|PMID:20359466|PMID:23726866|PMID:23827522|PMID:33971107 12199021 APP amyloid beta precursor protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12199021 APP amyloid beta precursor protein gene DOID:9004657 Weight Gain ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12199021 APP amyloid beta precursor protein gene DOID:9005181 Multi-Infarct Dementia ISO RGD:736021 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid: PMID:1677459|REF_RGD_ID:10054257 12199021 APP amyloid beta precursor protein gene DOID:9005246 Paralysis ISO RGD:736021 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:16122394|PMID:18762355|PMID:21706413|PMID:22952840|PMID:28915354|PMID:33290254|PMID:34902447 12199021 APP amyloid beta precursor protein gene DOID:9005393 Alzheimer's Disease, Early-Onset, with Cerebral Amyloid Angiopathy ISO RGD:736021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy PMID:16369530|PMID:19047566 12199021 APP amyloid beta precursor protein gene DOID:9005749 Necrosis ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21839817 12199021 APP amyloid beta precursor protein gene DOID:9005832 Amyloid Plaques ISO RGD:736021 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:19818510|PMID:29729307|PMID:31939705|PMID:33096116 12199021 APP amyloid beta precursor protein gene DOID:9006118 Amyloid Angiopathy ISO RGD:736021 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:31939705 12199021 APP amyloid beta precursor protein gene DOID:9006205 Animal Disease Models ISO RGD:736021 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:12746438|PMID:16651627|PMID:25881725|PMID:27567873|PMID:31939705 12199021 APP amyloid beta precursor protein gene DOID:9006478 Amyloid Neuropathies ISO RGD:736021 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:27567873 12199021 APP amyloid beta precursor protein gene DOID:9006647 Experimental Autoimmune Neuritis treatment ISO RGD:2139 D RGD:9068941 20200609 RGD PMID:28446186|REF_RGD_ID:13782060 12199021 APP amyloid beta precursor protein gene DOID:9007402 Gliosis ISO RGD:736021 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:27567873 12199021 APP amyloid beta precursor protein gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:2139 D RGD:9068941 20200609 RGD protein:increased expression:cerebral white matter: PMID:11743996|REF_RGD_ID:10054250 12199021 APP amyloid beta precursor protein gene DOID:9008023 Memory Disorders ISO RGD:736021 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:15364477|PMID:18191838|PMID:18599028|PMID:19664757|PMID:19770021|PMID:20816828|PMID:22484447|PMID:23827522|PMID:24858312|PMID:25213453|PMID:25881725|PMID:26420483|PMID:26480858|PMID:27306655|PMID:27567873|PMID:28448946|PMID:29729307|PMID:35247505 12199021 APP amyloid beta precursor protein gene DOID:9009105 HIV Encephalitis ISO RGD:736021 D RGD:9068941 20200609 RGD PMID:29632166|REF_RGD_ID:13782045 12199021 APP amyloid beta precursor protein gene DOID:9120 amyloidosis ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23541064 12199021 APP amyloid beta precursor protein gene DOID:9246 cerebral amyloid angiopathy ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21520056 12199021 APP amyloid beta precursor protein gene DOID:936 brain disease ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11800653 12199021 APP amyloid beta precursor protein gene DOID:9970 obesity treatment ISO RGD:736021 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:adipocyte,plasma: PMID:19672057|REF_RGD_ID:10054260 12199053 CD28 CD28 molecule gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:735932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 12199053 CD28 CD28 molecule gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:735932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 12199053 CD28 CD28 molecule gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:735932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916|PMID:26258847 12199053 CD28 CD28 molecule gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:735932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12199053 CD28 CD28 molecule gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:735932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12199053 CD28 CD28 molecule gene DOID:10322 berylliosis ISO RGD:735932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12952926 12199053 CD28 CD28 molecule gene DOID:11713 diabetic angiopathy ISO RGD:735932 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:T cell PMID:15504310|REF_RGD_ID:2307197 12199053 CD28 CD28 molecule gene DOID:1240 leukemia ISO RGD:735932 D RGD:9068941 20200609 RGD PMID:19075187|REF_RGD_ID:5131619 12199053 CD28 CD28 molecule gene DOID:12662 paracoccidioidomycosis ISO RGD:10307 D RGD:9068941 20200609 RGD PMID:20713624|REF_RGD_ID:5131616 12199053 CD28 CD28 molecule gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:735932 D RGD:9068941 20200609 RGD PMID:18056387|REF_RGD_ID:5131621 12199053 CD28 CD28 molecule gene DOID:14557 primary pulmonary hypertension ISO RGD:735932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12199053 CD28 CD28 molecule gene DOID:2377 multiple sclerosis ISO RGD:735932 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-372G>A (human) PMID:14975605|REF_RGD_ID:1358478 12199053 CD28 CD28 molecule gene DOID:2841 asthma ISO RGD:735932 D RGD:9068941 20200609 RGD PMID:21356099|REF_RGD_ID:5131612 12199053 CD28 CD28 molecule gene DOID:3082 interstitial lung disease ISO RGD:735932 D RGD:9068941 20200609 RGD PMID:20030671|REF_RGD_ID:5131613 12199053 CD28 CD28 molecule gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735932 D RGD:9068941 20200609 RGD PMID:18057064|REF_RGD_ID:5131620 12199053 CD28 CD28 molecule gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735932 D RGD:9068941 20200609 RGD CD28 null allele is increased in COPD PMID:19220836|REF_RGD_ID:5131618 12199053 CD28 CD28 molecule gene DOID:3770 pulmonary fibrosis ISO RGD:10307 D RGD:9068941 20200609 RGD PMID:20395561|REF_RGD_ID:4892281 12199053 CD28 CD28 molecule gene DOID:417 autoimmune disease ISO RGD:735932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15494542|PMID:19077085 12199053 CD28 CD28 molecule gene DOID:4483 rhinitis ISO RGD:735932 D RGD:9068941 20200609 RGD PMID:21356099|REF_RGD_ID:5131612 12199053 CD28 CD28 molecule gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7492435 12199053 CD28 CD28 molecule gene DOID:614 lymphopenia ISO RGD:2299 D RGD:9068941 20200609 RGD PMID:12750179|REF_RGD_ID:2307205 12199053 CD28 CD28 molecule gene DOID:630 genetic disease ISO RGD:735932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199053 CD28 CD28 molecule gene DOID:6432 pulmonary hypertension ISO RGD:735932 D RGD:9068941 20200609 RGD PMID:19075187|REF_RGD_ID:5131619 12199053 CD28 CD28 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:735932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19898481|PMID:20453842|PMID:23143596 12199053 CD28 CD28 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:735932 D RGD:9068941 20200609 RGD PMID:19075187|REF_RGD_ID:5131619 12199053 CD28 CD28 molecule gene DOID:8544 chronic fatigue syndrome ISO RGD:735932 D RGD:9068941 20200609 RGD PMID:18801465|REF_RGD_ID:5131614 12199053 CD28 CD28 molecule gene DOID:9001341 Chloracne ISO RGD:735932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12199053 CD28 CD28 molecule gene DOID:9001488 Human Influenza ISO RGD:10307 D RGD:9068941 20200609 RGD PMID:21389258|REF_RGD_ID:5131611 12199053 CD28 CD28 molecule gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:735932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12199053 CD28 CD28 molecule gene DOID:9002311 Experimental Autoimmune Myocarditis severity ISO RGD:10307 D RGD:9068941 20200609 RGD PMID:8759765|REF_RGD_ID:13702883 12199053 CD28 CD28 molecule gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:2299 D RGD:9068941 20200609 RGD PMID:19907173|REF_RGD_ID:13702882 12199053 CD28 CD28 molecule gene DOID:9002457 Experimental Arthritis ISO RGD:2299 D RGD:9068941 20200609 RGD PMID:18601859|REF_RGD_ID:2307202 12199053 CD28 CD28 molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2299 D RGD:9068941 20200609 RGD PMID:16061730|REF_RGD_ID:2307203 12199053 CD28 CD28 molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12199053 CD28 CD28 molecule gene DOID:9004484 Sepsis severity ISO RGD:735932 D RGD:9068941 20200609 RGD Higher soluble CD28 in patients who died PMID:17989345|REF_RGD_ID:5131622 12199053 CD28 CD28 molecule gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10307 D RGD:9068941 20200609 RGD PMID:11160314|REF_RGD_ID:2307200 12199053 CD28 CD28 molecule gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:2299 D RGD:9068941 20200609 RGD PMID:12864982|REF_RGD_ID:2307204 12199053 CD28 CD28 molecule gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:735932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12199053 CD28 CD28 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:10307 D RGD:9068941 20200609 RGD PMID:9410902|REF_RGD_ID:2307201 12199053 CD28 CD28 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:735932 D RGD:9068941 20200609 RGD protein:decreased expression:T cell PMID:15504310|REF_RGD_ID:2307197 12199053 CD28 CD28 molecule gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:735932 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:11685455|REF_RGD_ID:2307199 12199061 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:0080600 COVID-19 ISO RGD:736446 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12199061 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:10283 prostate cancer ISO RGD:736446 D RGD:9068941 20200609 RGD PMID:16818707|REF_RGD_ID:2302523 12199061 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:736446 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:17720776|REF_RGD_ID:2302521 12199061 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:11132 prostatic hypertrophy severity ISO RGD:736446 D RGD:9068941 20200609 RGD DNA:SNPs:cds PMID:15136785|REF_RGD_ID:2302559 12199061 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:736446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543|PMID:22381227 12199061 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:12700 hyperprolactinemia ISO RGD:3757 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate (rat) PMID:18379994|REF_RGD_ID:4891877 12199061 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:1459 hypothyroidism ISO RGD:3757 D RGD:9068941 20200609 RGD mRNA:decreased expression:epididymus (rat) PMID:20303481|REF_RGD_ID:4891505 12199061 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:289 endometriosis ISO RGD:736446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21232532|PMID:23183084 12199061 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:3459 breast carcinoma ISO RGD:736446 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:15212687|REF_RGD_ID:2302558 12199061 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:630 genetic disease ISO RGD:736446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199061 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12199061 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:11341 D RGD:9068941 20200609 RGD PMID:17707058|REF_RGD_ID:2302522 12199061 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18500220|PMID:20564326 12199061 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:9003936 Cardiomegaly ISO RGD:736446 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle (human) PMID:12374776|REF_RGD_ID:4891966 12199061 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3757 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland (rat) PMID:17884440|REF_RGD_ID:4891894 12199061 SRD5A1 steroid 5 alpha-reductase 1 gene DOID:9970 obesity ISO RGD:3757 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:20098742|REF_RGD_ID:4891511 12199061 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:10283 prostate cancer ISO RGD:3757 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland (rat) PMID:16818707|REF_RGD_ID:2302523 12199073 UBAP1 ubiquitin associated protein 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1313064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12199073 UBAP1 ubiquitin associated protein 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1313064 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12199073 UBAP1 ubiquitin associated protein 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1313064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12199073 UBAP1 ubiquitin associated protein 1 gene DOID:0112341 hereditary spastic paraplegia 80 ISO RGD:1313064 D RGD:7240710 20190911 OMIM 12199073 UBAP1 ubiquitin associated protein 1 gene DOID:0112341 hereditary spastic paraplegia 80 ISO RGD:1313064 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 80, autosomal dominant PMID:25741868|PMID:25741869|PMID:30929741|PMID:31203368|PMID:31515522|PMID:31696996 12199073 UBAP1 ubiquitin associated protein 1 gene DOID:630 genetic disease ISO RGD:1313064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12199073 UBAP1 ubiquitin associated protein 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12199073 UBAP1 ubiquitin associated protein 1 gene DOID:9870 galactosemia ISO RGD:1313064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12199089 LOC474850 heat shock 70 kDa protein 1-like gene DOID:0050553 JMP syndrome ISO RGD:1353078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12199089 LOC474850 heat shock 70 kDa protein 1-like gene DOID:0060500 drug allergy ISO RGD:1353078 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16538175 12199089 LOC474850 heat shock 70 kDa protein 1-like gene DOID:0110892 inflammatory bowel disease 1 ISO RGD:1353078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:28126021 12199089 LOC474850 heat shock 70 kDa protein 1-like gene DOID:13141 uveitis ISO RGD:1353078 D RGD:9068941 20200609 RGD associated with Sarcoidosis;DNA:SNP:exon:rs2075800 (human) PMID:17591867|REF_RGD_ID:5147597 12199089 LOC474850 heat shock 70 kDa protein 1-like gene DOID:13378 Kawasaki disease ISO RGD:1353078 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype:cds:2437T>C (p.M493T) (rs2227956) (human) PMID:23870089|REF_RGD_ID:8662464 12199089 LOC474850 heat shock 70 kDa protein 1-like gene DOID:1470 major depressive disorder ISO RGD:1353078 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2075799, rs2227956 (human) PMID:17428599|REF_RGD_ID:5147598 12199089 LOC474850 heat shock 70 kDa protein 1-like gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1353078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease 12199089 LOC474850 heat shock 70 kDa protein 1-like gene DOID:5419 schizophrenia ISO RGD:1353078 D RGD:9068941 20200609 RGD DNA:silent mutation, missense mutation, haplotype:cds: (rs2075799, rs2227956) (human) PMID:18299791|REF_RGD_ID:5147596 12199089 LOC474850 heat shock 70 kDa protein 1-like gene DOID:630 genetic disease ISO RGD:1353078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199089 LOC474850 heat shock 70 kDa protein 1-like gene DOID:8778 Crohn's disease ISO RGD:1353078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:28126021 12199089 LOC474850 heat shock 70 kDa protein 1-like gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1353078 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :rs2227956 (human) PMID:17009596|REF_RGD_ID:8662466 12199089 LOC474850 heat shock 70 kDa protein 1-like gene DOID:9003817 Sudden Hearing Loss ISO RGD:1353078 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :rs2075800 (human) PMID:22922572|REF_RGD_ID:8662465 12199089 LOC474850 heat shock 70 kDa protein 1-like gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1353078 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype: :p.M493T (human) PMID:15024131|REF_RGD_ID:8662461 12199089 LOC474850 heat shock 70 kDa protein 1-like gene DOID:9074 systemic lupus erythematosus ISO RGD:1353078 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2075800, rs2227956 (human) PMID:20498198|REF_RGD_ID:5147600 12199101 JCHAIN joining chain of multimeric IgA and IgM gene DOID:0080600 COVID-19 ISO RGD:1320892 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12199101 JCHAIN joining chain of multimeric IgA and IgM gene DOID:630 genetic disease ISO RGD:1320892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199101 JCHAIN joining chain of multimeric IgA and IgM gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1320892 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12199114 LOC475935 interferon-induced transmembrane protein 1-like gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12199114 LOC475935 interferon-induced transmembrane protein 1-like gene DOID:0080600 COVID-19 ISO RGD:1343642 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12199114 LOC475935 interferon-induced transmembrane protein 1-like gene DOID:0080600 COVID-19 severity ISO RGD:1343642 D RGD:9068941 20200625 RGD DNA:SNP: (rs12252)(human) PMID:32348495|REF_RGD_ID:30296684 12199114 LOC475935 interferon-induced transmembrane protein 1-like gene DOID:0111969 immunodeficiency 39 ISO RGD:1343642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12199114 LOC475935 interferon-induced transmembrane protein 1-like gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12199114 LOC475935 interferon-induced transmembrane protein 1-like gene DOID:630 genetic disease ISO RGD:1343642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199114 LOC475935 interferon-induced transmembrane protein 1-like gene DOID:9001488 Human Influenza ISO RGD:1343642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Influenza, severe, susceptibility to PMID:20943977|PMID:22446628 12199114 LOC475935 interferon-induced transmembrane protein 1-like gene DOID:9001488 Human Influenza susceptibility ISO RGD:1343642 D RGD:7240710 20190502 OMIM 12199120 SPIN1 spindlin 1 gene DOID:630 genetic disease ISO RGD:1314698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199135 SPTLC2 serine palmitoyltransferase long chain base subunit 2 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1354205 D RGD:7240710 20180130 OMIM 12199135 SPTLC2 serine palmitoyltransferase long chain base subunit 2 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1354205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:17081983|PMID:17576681|PMID:19564159|PMID:20920666|PMID:23658386|PMID:24175284|PMID:25567748|PMID:25640679|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26573920|PMID:26681808|PMID:27066551|PMID:27549087|PMID:28166811|PMID:28492532|PMID:28902413|PMID:29042446|PMID:29184351|PMID:30373780|PMID:30866134|PMID:30955194|PMID:30995999|PMID:31509666|PMID:31692161|PMID:32730653|PMID:9536098 12199135 SPTLC2 serine palmitoyltransferase long chain base subunit 2 gene DOID:0080600 COVID-19 ISO RGD:1354205 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12199135 SPTLC2 serine palmitoyltransferase long chain base subunit 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1354205 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:17081983|PMID:25567748|PMID:25741868|PMID:26681808|PMID:28492532|PMID:28902413|PMID:29184351|PMID:30866134|PMID:30955194|PMID:30995999|PMID:31509666|PMID:32730653 12199135 SPTLC2 serine palmitoyltransferase long chain base subunit 2 gene DOID:630 genetic disease ISO RGD:1354205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19564159|PMID:25741868|PMID:26392352|PMID:26573920|PMID:28166811|PMID:28492532|PMID:29042446|PMID:30373780|PMID:31692161|PMID:9536098 12199135 SPTLC2 serine palmitoyltransferase long chain base subunit 2 gene DOID:8893 psoriasis ISO RGD:1614415 D RGD:9068941 20220825 MouseDO OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106 12199151 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:731754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 12199151 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0050742 nicotine dependence ISO RGD:731754 D RGD:7240710 20230505 OMIM 12199151 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0050742 nicotine dependence ISO RGD:731754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tobacco addiction, susceptibility to PMID:25741868|PMID:28492532 12199151 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0060041 autism spectrum disorder ISO RGD:731754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12199151 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0070073 autosomal dominant intellectual developmental disorder 43 ISO RGD:731754 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 43 PMID:25741868|PMID:28492532 12199151 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0080291 developmental and epileptic encephalopathy 59 ISO RGD:731754 D RGD:7240710 20230505 OMIM 12199151 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0080291 developmental and epileptic encephalopathy 59 ISO RGD:731754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 59 PMID:25262651|PMID:25741868|PMID:28492532|PMID:28856709|PMID:29100083|PMID:29369404|PMID:32860008|PMID:34008892 12199151 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:731754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 12199151 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:731754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 12199151 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:1059 intellectual disability ISO RGD:731754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12199151 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:1206 Rett syndrome ISO RGD:731754 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:25741868|PMID:26740508|PMID:27541642|PMID:28492532|PMID:28856709|PMID:29100083 12199151 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:12712 nephronophthisis ISO RGD:731754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 12199151 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:12849 autistic disorder ISO RGD:731754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19002745 12199151 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 12199151 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:1826 epilepsy ISO RGD:731754 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12199151 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:630 genetic disease ISO RGD:731754 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26740508|PMID:27541642|PMID:28492532|PMID:28856709|PMID:29100083 12199151 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:731754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:25741868|PMID:26740508|PMID:27541642|PMID:28492532|PMID:28856709|PMID:29100083|PMID:34055682|PMID:9536098 12199151 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:9009154 Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills ISO RGD:731754 D RGD:7240710 20230505 OMIM 12199151 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:9009154 Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills ISO RGD:731754 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor language and loss of hand skills PMID:25262651|PMID:25741868|PMID:26740508|PMID:27541642|PMID:28492532|PMID:28856709|PMID:29100083|PMID:29369404|PMID:34008892|PMID:35414446 12199174 CAVIN4 caveolae associated protein 4 gene DOID:1059 intellectual disability ISO RGD:1606650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12199181 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:0060041 autism spectrum disorder ISO RGD:735326 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12199181 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:0080230 autosomal dominant intellectual developmental disorder 54 ISO RGD:735326 D RGD:7240710 20220921 OMIM 12199181 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:0080230 autosomal dominant intellectual developmental disorder 54 ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 54 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 PMID:25741868|PMID:28492532|PMID:29100089|PMID:29560374|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 12199181 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:1059 intellectual disability ISO RGD:735326 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:29100089|PMID:32581362|PMID:32875707 12199181 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:1059 intellectual disability ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 12199181 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:10907 microcephaly ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 12199181 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:3070 high grade glioma disease_progression ISO RGD:10285 D RGD:9068941 20220922 RGD PMID:15750623|REF_RGD_ID:13702479 12199181 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:3181 oligodendroglioma disease_progression ISO RGD:10285 D RGD:9068941 20220922 RGD PMID:15750623|REF_RGD_ID:13702479 12199181 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735326 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12199181 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:5062 phencyclidine abuse ISO RGD:735326 D RGD:9068941 20220922 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 12199181 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:5419 schizophrenia ISO RGD:10284 D RGD:9068941 20220922 RGD PMID:20336626|REF_RGD_ID:9685022 12199181 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:5419 schizophrenia ISO RGD:735326 D RGD:9068941 20220922 CTD CTD Direct Evidence: marker/mechanism PMID:11042361|PMID:20336626 12199181 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:543 dystonia ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 12199181 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:630 genetic disease ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 12199181 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:8646 substance-induced psychosis ISO RGD:735326 D RGD:9068941 20220922 CTD CTD Direct Evidence: marker/mechanism PMID:17603807 12199181 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735326 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12199181 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:9004673 Hearing Loss, Cisplatin-Induced treatment ISO RGD:2262 D RGD:9068941 20220922 RGD PMID:23558232|REF_RGD_ID:9685025 12199181 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:9004992 Apnea ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Apnea PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 12199181 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735326 D RGD:9068941 20220922 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 12199181 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:9006534 Nervous System Malformations ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 12199181 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:9006680 Hyperventilation ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperventilation PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 12199181 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:9008086 Developmental Disabilities ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 12199181 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:9008582 Developmental Disease ISO RGD:735326 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12199181 CAMK2B calcium/calmodulin dependent protein kinase II beta gene DOID:9505 cannabis abuse ISO RGD:735326 D RGD:9068941 20220922 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 12199191 ZNF787 zinc finger protein 787 gene DOID:13501 Moebius syndrome ISO RGD:1603274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 12199191 ZNF787 zinc finger protein 787 gene DOID:630 genetic disease ISO RGD:1603274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199219 NXNL1 nucleoredoxin like 1 gene DOID:630 genetic disease ISO RGD:1350601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199223 AZI2 5-azacytidine induced 2 gene DOID:630 genetic disease ISO RGD:1605352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199235 SLCO4A1 solute carrier organic anion transporter family member 4A1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12199235 SLCO4A1 solute carrier organic anion transporter family member 4A1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:735453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12199235 SLCO4A1 solute carrier organic anion transporter family member 4A1 gene DOID:0080600 COVID-19 ISO RGD:735453 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12199235 SLCO4A1 solute carrier organic anion transporter family member 4A1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12199235 SLCO4A1 solute carrier organic anion transporter family member 4A1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12199235 SLCO4A1 solute carrier organic anion transporter family member 4A1 gene DOID:630 genetic disease ISO RGD:735453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199254 IFFO1 intermediate filament family orphan 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1603680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12199254 IFFO1 intermediate filament family orphan 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1603680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12199254 IFFO1 intermediate filament family orphan 1 gene DOID:0111621 Temtamy syndrome ISO RGD:1603680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12199254 IFFO1 intermediate filament family orphan 1 gene DOID:630 genetic disease ISO RGD:1603680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199254 IFFO1 intermediate filament family orphan 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12199278 WDFY4 WDFY family member 4 gene DOID:11372 megacolon ISO RGD:1350991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12199278 WDFY4 WDFY family member 4 gene DOID:12849 autistic disorder ISO RGD:1350991 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30559488 12199278 WDFY4 WDFY family member 4 gene DOID:5419 schizophrenia ISO RGD:1350991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12199278 WDFY4 WDFY family member 4 gene DOID:630 genetic disease ISO RGD:1350991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199278 WDFY4 WDFY family member 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1350991 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30559488 12199360 ARHGEF10L Rho guanine nucleotide exchange factor 10 like gene DOID:0050933 ovarian serous carcinoma susceptibility ISO RGD:1605662 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs10788679(human) PMID:29979793|REF_RGD_ID:14348955 12199360 ARHGEF10L Rho guanine nucleotide exchange factor 10 like gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1605662 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12199360 ARHGEF10L Rho guanine nucleotide exchange factor 10 like gene DOID:3307 teratoma ISO RGD:1605662 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 12199360 ARHGEF10L Rho guanine nucleotide exchange factor 10 like gene DOID:6212 ovarian endometrial cancer susceptibility ISO RGD:1605662 D RGD:9068941 20200609 RGD DNA:SNP: :rs2256787(human) PMID:29979793|REF_RGD_ID:14348955 12199360 ARHGEF10L Rho guanine nucleotide exchange factor 10 like gene DOID:630 genetic disease ISO RGD:1605662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199360 ARHGEF10L Rho guanine nucleotide exchange factor 10 like gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1605662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 12199414 NCAM2 neural cell adhesion molecule 2 gene DOID:10652 Alzheimer's disease ISO RGD:1342930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 12199414 NCAM2 neural cell adhesion molecule 2 gene DOID:13938 amenorrhea ISO RGD:1342930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12199414 NCAM2 neural cell adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1342930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199414 NCAM2 neural cell adhesion molecule 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12199436 MYH13 myosin heavy chain 13 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:737050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 12199436 MYH13 myosin heavy chain 13 gene DOID:630 genetic disease ISO RGD:737050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199436 MYH13 myosin heavy chain 13 gene DOID:8398 osteoarthritis ISO RGD:737050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12199478 TMC7 transmembrane channel like 7 gene DOID:630 genetic disease ISO RGD:1344679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199503 THOC1 THO complex subunit 1 gene DOID:12849 autistic disorder ISO RGD:1318555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12199503 THOC1 THO complex subunit 1 gene DOID:630 genetic disease ISO RGD:1318555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199503 THOC1 THO complex subunit 1 gene DOID:9002299 Autosomal Dominant Nonsyndromic Deafness 86 ISO RGD:1318555 D RGD:7240710 20230505 OMIM 12199503 THOC1 THO complex subunit 1 gene DOID:9002299 Autosomal Dominant Nonsyndromic Deafness 86 ISO RGD:1318555 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 86 PMID:32776944 12199503 THOC1 THO complex subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12199528 NT5C3B 5'-nucleotidase, cytosolic IIIB gene DOID:630 genetic disease ISO RGD:1602442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199544 SLFN14 schlafen family member 14 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:1602272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 12199544 SLFN14 schlafen family member 14 gene DOID:0111055 platelet-type bleeding disorder 20 ISO RGD:1602272 D RGD:7240710 20190315 OMIM 12199544 SLFN14 schlafen family member 14 gene DOID:0111055 platelet-type bleeding disorder 20 ISO RGD:1602272 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 20 PMID:25741868|PMID:26280575|PMID:26769223|PMID:28492532|PMID:29678925|PMID:32581362 12199544 SLFN14 schlafen family member 14 gene DOID:2213 hemorrhagic disease ISO RGD:1602272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:26280575|PMID:32581362 12199544 SLFN14 schlafen family member 14 gene DOID:630 genetic disease ISO RGD:1602272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26280575|PMID:28492532|PMID:29678925 12199553 LOC492024 nuclear RNA export factor 2-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1626558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12199553 LOC492024 nuclear RNA export factor 2-like gene DOID:12849 autistic disorder ISO RGD:1626558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12199553 LOC492024 nuclear RNA export factor 2-like gene DOID:630 genetic disease ISO RGD:1626558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199580 LETMD1 LETM1 domain containing 1 gene DOID:1612 breast cancer ISO RGD:1344708 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:19208263|REF_RGD_ID:2314917 12199580 LETMD1 LETM1 domain containing 1 gene DOID:363 uterine cancer ISO RGD:1344708 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:12879013|REF_RGD_ID:2314918 12199580 LETMD1 LETM1 domain containing 1 gene DOID:4001 ovarian carcinoma ISO RGD:1344708 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary PMID:12879013|REF_RGD_ID:2314918 12199580 LETMD1 LETM1 domain containing 1 gene DOID:4451 renal carcinoma ISO RGD:1344708 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:12879013|REF_RGD_ID:2314918 12199580 LETMD1 LETM1 domain containing 1 gene DOID:5517 stomach carcinoma ISO RGD:1344708 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:stomach PMID:12879013|REF_RGD_ID:2314918 12199580 LETMD1 LETM1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1344708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199608 LOC608868 formin-like protein 20 gene DOID:630 genetic disease ISO RGD:1349580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199608 LOC608868 formin-like protein 20 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1349580 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12199614 DNAJC5B DnaJ heat shock protein family (Hsp40) member C5 beta gene DOID:630 genetic disease ISO RGD:1348913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199624 TP53INP2 tumor protein p53 inducible nuclear protein 2 gene DOID:2843 long QT syndrome ISO RGD:1352381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12199624 TP53INP2 tumor protein p53 inducible nuclear protein 2 gene DOID:630 genetic disease ISO RGD:1352381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199642 LRMDA leucine rich melanocyte differentiation associated gene DOID:0060224 atrial fibrillation ISO RGD:1321229 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12199642 LRMDA leucine rich melanocyte differentiation associated gene DOID:0070100 oculocutaneous albinism type VII ISO RGD:1321229 D RGD:7240710 20180130 OMIM 12199642 LRMDA leucine rich melanocyte differentiation associated gene DOID:0070100 oculocutaneous albinism type VII ISO RGD:1321229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism type 7 PMID:23395477|PMID:25741868|PMID:26818737|PMID:28492532|PMID:29345414|PMID:31694064 12199642 LRMDA leucine rich melanocyte differentiation associated gene DOID:303 substance-related disorder ISO RGD:1321229 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12199642 LRMDA leucine rich melanocyte differentiation associated gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1321229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 12199659 RNF175 ring finger protein 175 gene DOID:630 genetic disease ISO RGD:1348737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199674 RHNO1 RAD9-HUS1-RAD1 interacting nuclear orphan 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1602857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12199697 SIGIRR single Ig and TIR domain containing gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12199697 SIGIRR single Ig and TIR domain containing gene DOID:0080600 COVID-19 ISO RGD:1604804 D RGD:9068941 20200702 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12199697 SIGIRR single Ig and TIR domain containing gene DOID:0111969 immunodeficiency 39 ISO RGD:1604804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12199697 SIGIRR single Ig and TIR domain containing gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12199697 SIGIRR single Ig and TIR domain containing gene DOID:630 genetic disease ISO RGD:1604804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199712 RAB11FIP3 RAB11 family interacting protein 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1353989 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12199712 RAB11FIP3 RAB11 family interacting protein 3 gene DOID:1826 epilepsy ISO RGD:1353989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 12199712 RAB11FIP3 RAB11 family interacting protein 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1353989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12199712 RAB11FIP3 RAB11 family interacting protein 3 gene DOID:630 genetic disease ISO RGD:1353989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199730 OR6T1P olfactory receptor family 6 subfamily T member 1, pseudogene gene DOID:0110877 holoprosencephaly 11 ISO RGD:1344490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12199730 OR6T1P olfactory receptor family 6 subfamily T member 1, pseudogene gene DOID:5419 schizophrenia ISO RGD:1344490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12199730 OR6T1P olfactory receptor family 6 subfamily T member 1, pseudogene gene DOID:630 genetic disease ISO RGD:1344490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199730 OR6T1P olfactory receptor family 6 subfamily T member 1, pseudogene gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12199730 OR6T1P olfactory receptor family 6 subfamily T member 1, pseudogene gene DOID:9007661 Dwarfism ISO RGD:1344490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12199733 HAUS6 HAUS augmin like complex subunit 6 gene DOID:630 genetic disease ISO RGD:1320176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199733 HAUS6 HAUS augmin like complex subunit 6 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1320176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043753 12199733 HAUS6 HAUS augmin like complex subunit 6 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1320176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12199754 RASSF7 Ras association domain family member 7 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12199754 RASSF7 Ras association domain family member 7 gene DOID:0050729 neutral lipid storage disease ISO RGD:1314751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 12199754 RASSF7 Ras association domain family member 7 gene DOID:0080773 delta beta-thalassemia ISO RGD:1314751 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12199754 RASSF7 Ras association domain family member 7 gene DOID:0111969 immunodeficiency 39 ISO RGD:1314751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12199754 RASSF7 Ras association domain family member 7 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12199754 RASSF7 Ras association domain family member 7 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1314751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12199754 RASSF7 Ras association domain family member 7 gene DOID:630 genetic disease ISO RGD:1314751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199795 CTSG cathepsin G gene DOID:0060439 lysinuric protein intolerance ISO RGD:1317010 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12199795 CTSG cathepsin G gene DOID:630 genetic disease ISO RGD:1317010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199795 CTSG cathepsin G gene DOID:9000265 Specific Granule Deficiency ISO RGD:1317010 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12199795 CTSG cathepsin G gene DOID:9004009 Reperfusion Injury ISO RGD:1317011 D RGD:9068941 20200609 RGD PMID:17322378|REF_RGD_ID:7242055 12199795 CTSG cathepsin G gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1317010 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12199821 SLC16A1 solute carrier family 16 member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737474 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12199821 SLC16A1 solute carrier family 16 member 1 gene DOID:0070214 familial hyperinsulinemic hypoglycemia 7 ISO RGD:737474 D RGD:7240710 20180130 OMIM 12199821 SLC16A1 solute carrier family 16 member 1 gene DOID:0070214 familial hyperinsulinemic hypoglycemia 7 ISO RGD:737474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exercise-induced hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 7 PMID:11207177|PMID:17701893|PMID:18414213|PMID:19881260|PMID:25371203|PMID:25741868|PMID:25741869|PMID:26595136|PMID:28492532 12199821 SLC16A1 solute carrier family 16 member 1 gene DOID:0080600 COVID-19 ISO RGD:737474 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12199821 SLC16A1 solute carrier family 16 member 1 gene DOID:0080690 RASopathy ISO RGD:737474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12199821 SLC16A1 solute carrier family 16 member 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:737474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 12199821 SLC16A1 solute carrier family 16 member 1 gene DOID:13938 amenorrhea ISO RGD:737474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12199821 SLC16A1 solute carrier family 16 member 1 gene DOID:2018 hyperinsulinism ISO RGD:737474 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hyperinsulinism, Dominant PMID:25741868|PMID:28492532 12199821 SLC16A1 solute carrier family 16 member 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:737474 D RGD:9068941 20220630 RGD protein:increased expression:lung (human) PMID:29885404|REF_RGD_ID:152995523 12199821 SLC16A1 solute carrier family 16 member 1 gene DOID:630 genetic disease ISO RGD:737474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12199821 SLC16A1 solute carrier family 16 member 1 gene DOID:9002353 Erythrocyte Lactate Transporter Defect ISO RGD:737474 D RGD:7240710 20180130 OMIM 12199821 SLC16A1 solute carrier family 16 member 1 gene DOID:9002353 Erythrocyte Lactate Transporter Defect ISO RGD:737474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythrocyte lactate transporter defect | ClinVar Annotator: match by term: LACTATE TRANSPORTER DEFECT, MYOPATHY DUE TO PMID:10590411|PMID:18414213|PMID:25390740|PMID:25741868|PMID:28492532|PMID:3775384 12199821 SLC16A1 solute carrier family 16 member 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:737474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11953883 12199821 SLC16A1 solute carrier family 16 member 1 gene DOID:9007395 Monocarboxylate Transporter 1 Deficiency ISO RGD:737474 D RGD:7240710 20180130 OMIM 12199821 SLC16A1 solute carrier family 16 member 1 gene DOID:9007395 Monocarboxylate Transporter 1 Deficiency ISO RGD:737474 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency | ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency, autosomal dominant | ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency, autosomal recessive PMID:18414213|PMID:25390740|PMID:25741868|PMID:28492532 12199821 SLC16A1 solute carrier family 16 member 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11953883 12199836 MBP myelin basic protein gene DOID:0050256 angiostrongyliasis disease_progression ISO RGD:10884 D RGD:9068941 20200609 RGD PMID:20399564|REF_RGD_ID:27226693 12199836 MBP myelin basic protein gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:736262 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12199836 MBP myelin basic protein gene DOID:0080695 Burn-McKeown syndrome ISO RGD:736262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 12199836 MBP myelin basic protein gene DOID:12858 Huntington's disease ISO RGD:3054 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:21906685|REF_RGD_ID:7349325 12199836 MBP myelin basic protein gene DOID:13088 periventricular leukomalacia ISO RGD:3054 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:23614640|REF_RGD_ID:7327203 12199836 MBP myelin basic protein gene DOID:1459 hypothyroidism ISO RGD:3054 D RGD:9068941 20200609 RGD PMID:11592121|REF_RGD_ID:27226698 12199836 MBP myelin basic protein gene DOID:224 transient cerebral ischemia ISO RGD:3054 D RGD:9068941 20200609 RGD mRNA:increased expression:oligodendrocyte: PMID:11460777|REF_RGD_ID:7349336 12199836 MBP myelin basic protein gene DOID:2377 multiple sclerosis ISO RGD:736262 D RGD:9068941 20200609 RGD PMID:1691612|REF_RGD_ID:1358488 12199836 MBP myelin basic protein gene DOID:3213 demyelinating disease ISO RGD:3054 D RGD:9068941 20200609 RGD DNA:insertion:intron (rat) PMID:10212300|REF_RGD_ID:1358763 12199836 MBP myelin basic protein gene DOID:3213 demyelinating disease ISO RGD:736262 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2580064 12199836 MBP myelin basic protein gene DOID:3328 temporal lobe epilepsy ISO RGD:3054 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus: PMID:23727401|REF_RGD_ID:7327195 12199836 MBP myelin basic protein gene DOID:5419 schizophrenia ISO RGD:3054 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex: PMID:22750584|REF_RGD_ID:7349324 12199836 MBP myelin basic protein gene DOID:630 genetic disease ISO RGD:736262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199836 MBP myelin basic protein gene DOID:6420 pulmonary valve stenosis ISO RGD:736262 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12199836 MBP myelin basic protein gene DOID:6713 cerebrovascular disease ISO RGD:736262 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15159442 12199836 MBP myelin basic protein gene DOID:8445 intestinal volvulus ISO RGD:736262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12199836 MBP myelin basic protein gene DOID:8869 neuromyelitis optica ISO RGD:736262 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18509235 12199836 MBP myelin basic protein gene DOID:9000998 Brain Injuries ISO RGD:3054 D RGD:9068941 20200609 RGD PMID:18583256|REF_RGD_ID:7349333 12199836 MBP myelin basic protein gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:736262 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 12199836 MBP myelin basic protein gene DOID:9001809 Urinary Retention ISO RGD:736262 D RGD:9068941 20200609 RGD associated with Meningitis;protein:increased expression:cerebrospinal fluid: PMID:16680560|REF_RGD_ID:7349338 12199836 MBP myelin basic protein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:736262 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11501064|PMID:15159442|PMID:17884951|PMID:24070732 12199836 MBP myelin basic protein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:736262 D RGD:9068941 20200609 RGD PMID:16285900|REF_RGD_ID:7349334 12199836 MBP myelin basic protein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:736262 D RGD:9068941 20200618 RGD human sequence peptide in a rat model; associated with Herpesviridae infections PMID:12811845|REF_RGD_ID:30296670 12199836 MBP myelin basic protein gene DOID:9003420 Carbon Monoxide Poisoning ISO RGD:3054 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:23146304|REF_RGD_ID:7327205 12199836 MBP myelin basic protein gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:3054 D RGD:9068941 20200609 RGD protein:decreased expression:white matter: PMID:23715956|REF_RGD_ID:7327196 12199836 MBP myelin basic protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12199836 MBP myelin basic protein gene DOID:9005372 Inflammation ISO RGD:736262 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15159442 12199836 MBP myelin basic protein gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3054 D RGD:9068941 20200609 RGD PMID:23667870|REF_RGD_ID:7327197 12199836 MBP myelin basic protein gene DOID:9007553 neurotoxicity treatment ISO RGD:3054 D RGD:9068941 20230323 RGD PMID:33166664|REF_RGD_ID:213230154 12199836 MBP myelin basic protein gene DOID:9008419 Volvulus Of Midgut ISO RGD:736262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12199836 MBP myelin basic protein gene DOID:9588 encephalitis ISO RGD:3054 D RGD:9068941 20200609 RGD associated with maternal Periapical Abscess;protein:decreased expression:brain: PMID:23245577|REF_RGD_ID:7327204 12199836 MBP myelin basic protein gene DOID:9743 diabetic neuropathy ISO RGD:3054 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:decreased expression:sciatic nerve: PMID:23735240|REF_RGD_ID:7327194 12199854 CDCA2 cell division cycle associated 2 gene DOID:0080600 COVID-19 ISO RGD:1322226 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12199854 CDCA2 cell division cycle associated 2 gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:1322226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E PMID:19158810|PMID:20039262|PMID:28492532 12199854 CDCA2 cell division cycle associated 2 gene DOID:2661 myoepithelioma ISO RGD:1322226 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12199854 CDCA2 cell division cycle associated 2 gene DOID:630 genetic disease ISO RGD:1322226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199854 CDCA2 cell division cycle associated 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1322226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12199883 PSMD9 proteasome 26S subunit, non-ATPase 9 gene DOID:630 genetic disease ISO RGD:737461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199893 RBM34 RNA binding motif protein 34 gene DOID:1540 parathyroid carcinoma ISO RGD:1602128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12199893 RBM34 RNA binding motif protein 34 gene DOID:630 genetic disease ISO RGD:1602128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199893 RBM34 RNA binding motif protein 34 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12199911 PEX3 peroxisomal biogenesis factor 3 gene DOID:0050444 infantile Refsum disease ISO RGD:1352714 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL 12199911 PEX3 peroxisomal biogenesis factor 3 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1352714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10942428 12199911 PEX3 peroxisomal biogenesis factor 3 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1352714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) PMID:10958759|PMID:10968777|PMID:25741868|PMID:7562283 12199911 PEX3 peroxisomal biogenesis factor 3 gene DOID:0080484 peroxisome biogenesis disorder 10A ISO RGD:1352714 D RGD:7240710 20180130 OMIM 12199911 PEX3 peroxisomal biogenesis factor 3 gene DOID:0080484 peroxisome biogenesis disorder 10A ISO RGD:1352714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 10A (Zellweger) PMID:10942428|PMID:10958759|PMID:10968777|PMID:21031596|PMID:25741868|PMID:28492532|PMID:7562283 12199911 PEX3 peroxisomal biogenesis factor 3 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1352714 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532 12199911 PEX3 peroxisomal biogenesis factor 3 gene DOID:630 genetic disease ISO RGD:1352714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12199911 PEX3 peroxisomal biogenesis factor 3 gene DOID:9006868 Peroxisome Biogenesis Disorder 10B ISO RGD:1352714 D RGD:7240710 20190315 OMIM 12199911 PEX3 peroxisomal biogenesis factor 3 gene DOID:9006868 Peroxisome Biogenesis Disorder 10B ISO RGD:1352714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 10B PMID:25741868|PMID:27557811|PMID:28492532 12199911 PEX3 peroxisomal biogenesis factor 3 gene DOID:905 Zellweger syndrome ISO RGD:1352714 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum 12199930 SGK3 serum/glucocorticoid regulated kinase family, member 3 gene DOID:10283 prostate cancer ISO RGD:1354188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12199930 SGK3 serum/glucocorticoid regulated kinase family, member 3 gene DOID:4535 hypotrichosis IAGP D RGD:12801476 20210603 OMIA Hypotrichosis, recessive PMID:27994129|PMID:3367039|PMID:30927068|PMID:31727632 12199930 SGK3 serum/glucocorticoid regulated kinase family, member 3 gene DOID:630 genetic disease ISO RGD:1354188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12199969 CEP97 centrosomal protein 97 gene DOID:630 genetic disease ISO RGD:1343045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12199969 CEP97 centrosomal protein 97 gene DOID:9008086 Developmental Disabilities ISO RGD:1343045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:26539891 12199991 RPLP0 ribosomal protein lateral stalk subunit P0 gene DOID:14250 Down syndrome ISO RGD:621247 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:25261685|REF_RGD_ID:11039463 12199991 RPLP0 ribosomal protein lateral stalk subunit P0 gene DOID:630 genetic disease ISO RGD:1344368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200009 FOXN2 forkhead box N2 gene DOID:0080600 COVID-19 ISO RGD:1343664 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12200009 FOXN2 forkhead box N2 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:1343664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 12200009 FOXN2 forkhead box N2 gene DOID:630 genetic disease ISO RGD:1343664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200009 FOXN2 forkhead box N2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:30057029 12200023 FAM43A family with sequence similarity 43 member A gene DOID:630 genetic disease ISO RGD:1343774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200023 FAM43A family with sequence similarity 43 member A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12200083 TMBIM4 transmembrane BAX inhibitor motif containing 4 gene DOID:5119 ovarian cyst ISO RGD:1602117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12200083 TMBIM4 transmembrane BAX inhibitor motif containing 4 gene DOID:630 genetic disease ISO RGD:1602117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200094 FAM219A family with sequence similarity 219 member A gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1350147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12200094 FAM219A family with sequence similarity 219 member A gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1350147 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12200094 FAM219A family with sequence similarity 219 member A gene DOID:0080942 anauxetic dysplasia ISO RGD:1350147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12200094 FAM219A family with sequence similarity 219 member A gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1350147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12200094 FAM219A family with sequence similarity 219 member A gene DOID:630 genetic disease ISO RGD:1350147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200094 FAM219A family with sequence similarity 219 member A gene DOID:9562 primary ciliary dyskinesia ISO RGD:1350147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12200094 FAM219A family with sequence similarity 219 member A gene DOID:9870 galactosemia ISO RGD:1350147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12200113 OSBPL8 oxysterol binding protein like 8 gene DOID:630 genetic disease ISO RGD:1348483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200113 OSBPL8 oxysterol binding protein like 8 gene DOID:9004657 Weight Gain ISO RGD:1348483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12200176 ORC4 origin recognition complex subunit 4 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1343496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21358631|PMID:21358632 12200176 ORC4 origin recognition complex subunit 4 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1343496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:19809484|PMID:19904302|PMID:21981781|PMID:23422940|PMID:23587880|PMID:23632792|PMID:24885232|PMID:28492532 12200176 ORC4 origin recognition complex subunit 4 gene DOID:0080513 Meier-Gorlin syndrome 2 ISO RGD:1343496 D RGD:7240710 20190424 OMIM 12200176 ORC4 origin recognition complex subunit 4 gene DOID:0080513 Meier-Gorlin syndrome 2 ISO RGD:1343496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 2 PMID:11477602|PMID:18414213|PMID:21358631|PMID:21358632|PMID:22333897|PMID:24033266|PMID:25741868|PMID:28492532|PMID:34008892 12200176 ORC4 origin recognition complex subunit 4 gene DOID:5419 schizophrenia ISO RGD:1343496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12200176 ORC4 origin recognition complex subunit 4 gene DOID:630 genetic disease ISO RGD:1343496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12200200 IYD iodotyrosine deiodinase gene DOID:0050328 congenital hypothyroidism ISO RGD:1345868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism 12200200 IYD iodotyrosine deiodinase gene DOID:0112188 thyroid dyshormonogenesis 4 ISO RGD:1345868 D RGD:7240710 20180130 OMIM 12200200 IYD iodotyrosine deiodinase gene DOID:0112188 thyroid dyshormonogenesis 4 ISO RGD:1345868 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DEIODINASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 4 PMID:13183981|PMID:13333116|PMID:18434651|PMID:18765512|PMID:25741868|PMID:28492532 12200200 IYD iodotyrosine deiodinase gene DOID:630 genetic disease ISO RGD:1345868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:13183981|PMID:13333116|PMID:18434651|PMID:25741868|PMID:28106320|PMID:28492532 12200200 IYD iodotyrosine deiodinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12200209 WIZ WIZ zinc finger gene DOID:1936 atherosclerosis ISO RGD:1607009 D RGD:9068941 20230128 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) PMID:33381146|REF_RGD_ID:155882464 12200209 WIZ WIZ zinc finger gene DOID:630 genetic disease ISO RGD:1607009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200239 RAB11FIP2 RAB11 family interacting protein 2 gene DOID:630 genetic disease ISO RGD:1344867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200254 ZNF280D zinc finger protein 280D gene DOID:2717 Bloom syndrome ISO RGD:1323434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12200254 ZNF280D zinc finger protein 280D gene DOID:630 genetic disease ISO RGD:1323434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200254 ZNF280D zinc finger protein 280D gene DOID:9256 colorectal cancer ISO RGD:1323434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12200311 BRINP3 BMP/retinoic acid inducible neural specific 3 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1606655 D RGD:9068941 20200609 RGD mRNA:decreased expression:tongue: PMID:19787213|REF_RGD_ID:14398487 12200311 BRINP3 BMP/retinoic acid inducible neural specific 3 gene DOID:1474 aggressive periodontitis ISO RGD:1606655 D RGD:9068941 20200609 RGD mRNA:increased expression:saliva PMID:20383335|REF_RGD_ID:14398489 12200311 BRINP3 BMP/retinoic acid inducible neural specific 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1606655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12200311 BRINP3 BMP/retinoic acid inducible neural specific 3 gene DOID:3388 periodontal disease ISO RGD:1606655 D RGD:9068941 20200609 RGD mRNA:increased expressin:gingiva PMID:25887438|REF_RGD_ID:14398485 12200311 BRINP3 BMP/retinoic acid inducible neural specific 3 gene DOID:3393 coronary artery disease ISO RGD:1606655 D RGD:9068941 20200609 RGD DNA:SNP: :rs12732361(human), associated with male. PMID:27461004|REF_RGD_ID:14398490 12200311 BRINP3 BMP/retinoic acid inducible neural specific 3 gene DOID:3526 cerebral infarction ISO RGD:1606655 D RGD:9068941 20200609 RGD associated with diabetes mellitus;mRNA:protein:increased expression:blood mononuclear cell: PMID:26717922|REF_RGD_ID:14398486 12200311 BRINP3 BMP/retinoic acid inducible neural specific 3 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1606655 D RGD:9068941 20200609 RGD DNA:SNPs:3' end: PMID:18430236|REF_RGD_ID:14398488 12200311 BRINP3 BMP/retinoic acid inducible neural specific 3 gene DOID:630 genetic disease ISO RGD:1606655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200311 BRINP3 BMP/retinoic acid inducible neural specific 3 gene DOID:8577 ulcerative colitis ISO RGD:1606655 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:intestine PMID:25171508|REF_RGD_ID:14398484 12200311 BRINP3 BMP/retinoic acid inducible neural specific 3 gene DOID:9001004 Chronic Periodontitis susceptibility ISO RGD:1606655 D RGD:9068941 20200609 RGD DNA:SNP: :rs1935881(human) PMID:25887438|REF_RGD_ID:14398485 12200311 BRINP3 BMP/retinoic acid inducible neural specific 3 gene DOID:9003969 Peri-Implantitis susceptibility ISO RGD:1606655 D RGD:9068941 20200609 RGD DNA:SNP: :rs1935881(human) PMID:25887438|REF_RGD_ID:14398485 12200311 BRINP3 BMP/retinoic acid inducible neural specific 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12200332 RTKN2 rhotekin 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1312504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 12200332 RTKN2 rhotekin 2 gene DOID:630 genetic disease ISO RGD:1312504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200372 SPAG9 sperm associated antigen 9 gene DOID:1380 endometrial cancer ISO RGD:1322667 D RGD:9068941 20200613 RGD protein:increased expression:serum: PMID:24460345|REF_RGD_ID:30296659 12200372 SPAG9 sperm associated antigen 9 gene DOID:5082 liver cirrhosis ISO RGD:1322667 D RGD:9068941 20200613 RGD associated with Human Viral Hepatitis PMID:29344208|REF_RGD_ID:30296654 12200372 SPAG9 sperm associated antigen 9 gene DOID:630 genetic disease ISO RGD:1322667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200372 SPAG9 sperm associated antigen 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1322667 D RGD:9068941 20200613 RGD associated with Human Viral Hepatitis PMID:29344208|REF_RGD_ID:30296654 12200372 SPAG9 sperm associated antigen 9 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1322667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12200424 FADS1 fatty acid desaturase 1 gene DOID:0080600 COVID-19 ISO RGD:1344024 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12200424 FADS1 fatty acid desaturase 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1344024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12200424 FADS1 fatty acid desaturase 1 gene DOID:1059 intellectual disability ISO RGD:1344024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12200424 FADS1 fatty acid desaturase 1 gene DOID:10763 hypertension ISO RGD:621678 D RGD:9068941 20200609 RGD PMID:12144877|REF_RGD_ID:1625415 12200424 FADS1 fatty acid desaturase 1 gene DOID:630 genetic disease ISO RGD:1344024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200424 FADS1 fatty acid desaturase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12200424 FADS1 fatty acid desaturase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621678 D RGD:9068941 20200609 RGD PMID:16099631|REF_RGD_ID:1625413 12200424 FADS1 fatty acid desaturase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12200424 FADS1 fatty acid desaturase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1344024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 12200424 FADS1 fatty acid desaturase 1 gene DOID:9970 obesity ISO RGD:621678 D RGD:9068941 20200609 RGD protein:decreased expression:microsomes, liver PMID:8446010|REF_RGD_ID:1625421 12200445 TRPC3 transient receptor potential cation channel subfamily C member 3 gene DOID:0111744 cerebellar ataxia type 41 ISO RGD:733864 D RGD:7240710 20180130 OMIM 12200445 TRPC3 transient receptor potential cation channel subfamily C member 3 gene DOID:0111744 cerebellar ataxia type 41 ISO RGD:733864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 41 PMID:25477146|PMID:25741868|PMID:28492532 12200445 TRPC3 transient receptor potential cation channel subfamily C member 3 gene DOID:10763 hypertension ISO RGD:733864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17351372 12200445 TRPC3 transient receptor potential cation channel subfamily C member 3 gene DOID:3312 bipolar disorder ISO RGD:733864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23602965 12200445 TRPC3 transient receptor potential cation channel subfamily C member 3 gene DOID:630 genetic disease ISO RGD:733864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200445 TRPC3 transient receptor potential cation channel subfamily C member 3 gene DOID:6432 pulmonary hypertension ISO RGD:733864 D RGD:9068941 20200609 RGD PMID:15358862|REF_RGD_ID:1580490 12200445 TRPC3 transient receptor potential cation channel subfamily C member 3 gene DOID:9001542 Albuminuria ISO RGD:61973 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA, protein:increased expression:kidney cortex PMID:19887786|REF_RGD_ID:7247603 12200445 TRPC3 transient receptor potential cation channel subfamily C member 3 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:733864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12200445 TRPC3 transient receptor potential cation channel subfamily C member 3 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:733864 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 12200445 TRPC3 transient receptor potential cation channel subfamily C member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12200468 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:0050848 obstructive sleep apnea ISO RGD:1352313 D RGD:9068941 20200609 RGD protein:increased expression:tonsil, T cell PMID:18490405|REF_RGD_ID:4888517 12200468 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1352313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12200468 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:0060500 drug allergy ISO RGD:1352313 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15970796 12200468 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1352313 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481|PMID:20485159 12200468 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1352313 D RGD:9068941 20200609 RGD DNA:SNPs: :-819T>G, 2078C>T, 2534A>G (human) PMID:15970796|REF_RGD_ID:5144000 12200468 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:1059 intellectual disability ISO RGD:1352313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12200468 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:10754 otitis media ISO RGD:9011989 D RGD:9068941 20200609 RGD PMID:20433028|REF_RGD_ID:11553910 12200468 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:2841 asthma ISO RGD:1352313 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1220A>C (human) PMID:15454733|REF_RGD_ID:5144003 12200468 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:2841 asthma ISO RGD:1352313 D RGD:9068941 20200609 RGD DNA:polymorphism: :601A>G (human) PMID:15475736|REF_RGD_ID:5144002 12200468 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1352313 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15328359 12200468 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:732045 D RGD:9068941 20200609 RGD PMID:15328359|PMID:20497024|REF_RGD_ID:4781445|REF_RGD_ID:5143997 12200468 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:4483 rhinitis ISO RGD:1352313 D RGD:9068941 20200609 RGD associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium PMID:16689996|REF_RGD_ID:4783198 12200468 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:6039 uveal melanoma ISO RGD:1352313 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:27089179|PMID:33288675 12200468 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:630 genetic disease ISO RGD:1352313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200468 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:619797 D RGD:9068941 20210219 RGD mRNA, protein:increased expression:brain (rat) PMID:31933824|REF_RGD_ID:40903068 12200468 CYSLTR2 cysteinyl leukotriene receptor 2 gene DOID:9004009 Reperfusion Injury ISO RGD:619797 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:21664436|REF_RGD_ID:5144004 12200481 CLN5 CLN5 intracellular trafficking protein gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1315879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12200481 CLN5 CLN5 intracellular trafficking protein gene DOID:0110728 neuronal ceroid lipofuscinosis 5 IAGP D RGD:12801476 20220914 OMIA Neuronal ceroid lipofuscinosis, 5 PMID:2069541|PMID:1319117|PMID:10493420|PMID:15585966|PMID:16033706|PMID:12134079|PMID:3376765|PMID:22362793|PMID:23338040|PMID:22919312|PMID:25934231|PMID:27203721|PMID:27387721|PMID:28860089|PMID:31101435|PMID:32219101|PMID:33737533|PMID:33792748|PMID:34216614|PMID:33769611|PMID:35427439 12200481 CLN5 CLN5 intracellular trafficking protein gene DOID:0110728 neuronal ceroid lipofuscinosis 5 ISO RGD:1315879 D RGD:7240710 20180130 OMIM 12200481 CLN5 CLN5 intracellular trafficking protein gene DOID:0110728 neuronal ceroid lipofuscinosis 5 ISO RGD:1315879 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 5 PMID:10953198|PMID:11971870|PMID:12134079|PMID:15207259|PMID:15349861|PMID:15728307|PMID:16814585|PMID:17576681|PMID:18414213|PMID:18684116|PMID:19201763|PMID:19309691|PMID:19383612|PMID:20052765|PMID:20157158|PMID:20301601|PMID:20490930|PMID:20960652|PMID:21447811|PMID:21990111|PMID:22532218|PMID:22727047|PMID:23160995|PMID:23374165|PMID:24038957|PMID:24058541|PMID:24767253|PMID:25359263|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26342652|PMID:26467025|PMID:26990548|PMID:27069701|PMID:27149842|PMID:27533158|PMID:27553520|PMID:27884173|PMID:28492532|PMID:28542837|PMID:29482223|PMID:29655203|PMID:30037983|PMID:30078242|PMID:30264640|PMID:30655561|PMID:30919163|PMID:31105743|PMID:31130284|PMID:31319225|PMID:32005694|PMID:32983231|PMID:34906502|PMID:9536098|PMID:9662406 12200481 CLN5 CLN5 intracellular trafficking protein gene DOID:1059 intellectual disability ISO RGD:1315879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12200481 CLN5 CLN5 intracellular trafficking protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1315879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10953198|PMID:11727201|PMID:11971870|PMID:12134079|PMID:12673792|PMID:15728307|PMID:16199547|PMID:16814585|PMID:17576681|PMID:18414213|PMID:19201763|PMID:19309691|PMID:19383612|PMID:20052765|PMID:20157158|PMID:20301601|PMID:20960652|PMID:21990111|PMID:22532218|PMID:22727047|PMID:23374165|PMID:24038957|PMID:24058541|PMID:24767253|PMID:25525159|PMID:25677497|PMID:25741868|PMID:25976102|PMID:26342652|PMID:26467025|PMID:26990548|PMID:27069701|PMID:27149842|PMID:27533158|PMID:27553520|PMID:27884173|PMID:28492532|PMID:28542837|PMID:29482223|PMID:29655203|PMID:30037983|PMID:30078242|PMID:30264640|PMID:30919163|PMID:31105743|PMID:32005694|PMID:32393339|PMID:32983231|PMID:34906502|PMID:9536098|PMID:9662406 12200481 CLN5 CLN5 intracellular trafficking protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1315879 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10953198|PMID:11971870|PMID:12134079|PMID:15728307|PMID:16199547|PMID:16814585|PMID:17576681|PMID:18414213|PMID:19201763|PMID:19309691|PMID:19383612|PMID:20052765|PMID:20157158|PMID:20301601|PMID:20960652|PMID:21990111|PMID:22532218|PMID:22727047|PMID:23374165|PMID:24038957|PMID:24058541|PMID:24767253|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26342652|PMID:26467025|PMID:26990548|PMID:27069701|PMID:27149842|PMID:27533158|PMID:27553520|PMID:27884173|PMID:28492532|PMID:28542837|PMID:29482223|PMID:29655203|PMID:30037983|PMID:30078242|PMID:30264640|PMID:30919163|PMID:31105743|PMID:32005694|PMID:32393339|PMID:32983231|PMID:34906502|PMID:9536098|PMID:9662406 12200481 CLN5 CLN5 intracellular trafficking protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1315879 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10953198|PMID:11971870|PMID:12134079|PMID:15728307|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19201763|PMID:19383612|PMID:20052765|PMID:20157158|PMID:20301601|PMID:20960652|PMID:21990111|PMID:22532218|PMID:22727047|PMID:23374165|PMID:24058541|PMID:24767253|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25976102|PMID:26342652|PMID:26467025|PMID:26990548|PMID:27069701|PMID:27149842|PMID:27533158|PMID:27553520|PMID:27884173|PMID:28492532|PMID:28542837|PMID:29482223|PMID:29655203|PMID:30037983|PMID:30078242|PMID:30264640|PMID:30919163|PMID:31105743|PMID:32005694|PMID:32393339|PMID:32983231|PMID:34906502|PMID:9536098|PMID:9662406 12200481 CLN5 CLN5 intracellular trafficking protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1315879 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10528251|PMID:10953198|PMID:11971870|PMID:12134079|PMID:15349861|PMID:15728307|PMID:16199547|PMID:16814585|PMID:17576681|PMID:18414213|PMID:18684116|PMID:19201763|PMID:19309691|PMID:19383612|PMID:20052765|PMID:20127975|PMID:20157158|PMID:20301601|PMID:20490930|PMID:20960652|PMID:21447811|PMID:21990111|PMID:22532218|PMID:22589734|PMID:22727047|PMID:23160995|PMID:23374165|PMID:24038957|PMID:24058541|PMID:24767253|PMID:25359263|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25976102|PMID:26342652|PMID:26467025|PMID:26990548|PMID:27069701|PMID:27149842|PMID:27533158|PMID:27553520|PMID:27884173|PMID:28492532|PMID:28542837|PMID:29482223|PMID:29655203|PMID:30037983|PMID:30078242|PMID:30264640|PMID:30394532|PMID:30655561|PMID:30919163|PMID:31105743|PMID:31130284|PMID:31406620|PMID:32005694|PMID:32393339|PMID:32983231|PMID:34906502|PMID:8001159|PMID:9536098|PMID:9662406 12200481 CLN5 CLN5 intracellular trafficking protein gene DOID:1826 epilepsy ISO RGD:1315879 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:18414213|PMID:20157158|PMID:21990111|PMID:22727047|PMID:23374165|PMID:24767253|PMID:25741868|PMID:26467025|PMID:26990548|PMID:27069701|PMID:27533158|PMID:27884173|PMID:28492532|PMID:9662406 12200481 CLN5 CLN5 intracellular trafficking protein gene DOID:630 genetic disease ISO RGD:1315879 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11971870|PMID:12134079|PMID:15728307|PMID:17576681|PMID:18414213|PMID:20052765|PMID:20157158|PMID:20301601|PMID:20490930|PMID:21990111|PMID:22727047|PMID:23374165|PMID:24767253|PMID:25741868|PMID:26467025|PMID:26990548|PMID:27069701|PMID:27533158|PMID:27884173|PMID:28492532|PMID:30078242|PMID:30264640|PMID:9536098|PMID:9662406 12200481 CLN5 CLN5 intracellular trafficking protein gene DOID:891 progressive myoclonus epilepsy ISO RGD:1315879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:18414213|PMID:24767253|PMID:25741868|PMID:26467025|PMID:28492532 12200481 CLN5 CLN5 intracellular trafficking protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12200489 TMEM120B transmembrane protein 120B gene DOID:630 genetic disease ISO RGD:1626589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200513 DUSP16 dual specificity phosphatase 16 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1321793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12200513 DUSP16 dual specificity phosphatase 16 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1321793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12200513 DUSP16 dual specificity phosphatase 16 gene DOID:224 transient cerebral ischemia ISO RGD:1310721 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:hippocampus, cytosol, nucleus PMID:23280045|REF_RGD_ID:7775014 12200513 DUSP16 dual specificity phosphatase 16 gene DOID:630 genetic disease ISO RGD:1321793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200513 DUSP16 dual specificity phosphatase 16 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1321793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12200542 GANC glucosidase alpha, neutral C gene DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A ISO RGD:1350162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2A PMID:10330340|PMID:15689361|PMID:28492532 12200542 GANC glucosidase alpha, neutral C gene DOID:2717 Bloom syndrome ISO RGD:1350162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12200542 GANC glucosidase alpha, neutral C gene DOID:630 genetic disease ISO RGD:1350162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200542 GANC glucosidase alpha, neutral C gene DOID:9256 colorectal cancer ISO RGD:1350162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12200583 WDR75 WD repeat domain 75 gene DOID:0111944 immunodeficiency 31B ISO RGD:1604581 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 12200583 WDR75 WD repeat domain 75 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1604581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:20648054|PMID:23587214|PMID:28492532 12200583 WDR75 WD repeat domain 75 gene DOID:630 genetic disease ISO RGD:1604581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200583 WDR75 WD repeat domain 75 gene DOID:9001287 Ehlers-Danlos Syndrome Type 4 ISO RGD:1604581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:20648054|PMID:23587214|PMID:28492532 12200583 WDR75 WD repeat domain 75 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12200608 SHROOM2 shroom family member 2 gene DOID:12849 autistic disorder ISO RGD:1343092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12200608 SHROOM2 shroom family member 2 gene DOID:630 genetic disease ISO RGD:1343092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200608 SHROOM2 shroom family member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12200608 SHROOM2 shroom family member 2 gene DOID:9849 Meniere's disease ISO RGD:1343092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:25741868 12200627 NOL11 nucleolar protein 11 gene DOID:630 genetic disease ISO RGD:1603676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200627 NOL11 nucleolar protein 11 gene DOID:9008086 Developmental Disabilities ISO RGD:1603676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28942966 12200655 TMEM121B transmembrane protein 121B gene DOID:0080600 COVID-19 ISO RGD:1349802 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12200655 TMEM121B transmembrane protein 121B gene DOID:0111996 immunodeficiency 51 ISO RGD:1349802 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 51 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12200655 TMEM121B transmembrane protein 121B gene DOID:630 genetic disease ISO RGD:1349802 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200655 TMEM121B transmembrane protein 121B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12200655 TMEM121B transmembrane protein 121B gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1349802 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12200661 IZUMO1 izumo sperm-oocyte fusion 1 gene DOID:630 genetic disease ISO RGD:1604485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200678 GON7 GON7 subunit of KEOPS complex gene DOID:0080054 achondrogenesis type IA ISO RGD:1346081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12200678 GON7 GON7 subunit of KEOPS complex gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1346081 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome PMID:25741868|PMID:31481669 12200678 GON7 GON7 subunit of KEOPS complex gene DOID:630 genetic disease ISO RGD:1346081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200678 GON7 GON7 subunit of KEOPS complex gene DOID:9001247 Galloway-Mowat Syndrome 9 ISO RGD:1346081 D RGD:7240710 20211201 OMIM 12200678 GON7 GON7 subunit of KEOPS complex gene DOID:9001247 Galloway-Mowat Syndrome 9 ISO RGD:1346081 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 PMID:25741868|PMID:31481669 12200678 GON7 GON7 subunit of KEOPS complex gene DOID:9003293 Li-Campeau Syndrome ISO RGD:1346081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Li-Campeau syndrome PMID:33340455 12200686 CD5 CD5 molecule gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:736702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12200686 CD5 CD5 molecule gene DOID:1059 intellectual disability ISO RGD:736702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12200686 CD5 CD5 molecule gene DOID:630 genetic disease ISO RGD:736702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200686 CD5 CD5 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:736702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 12200686 CD5 CD5 molecule gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:736702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18006695 12200705 TMEM87A transmembrane protein 87A gene DOID:2717 Bloom syndrome ISO RGD:1603672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12200705 TMEM87A transmembrane protein 87A gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1616834 D RGD:9068941 20220825 MouseDO 12200705 TMEM87A transmembrane protein 87A gene DOID:630 genetic disease ISO RGD:1603672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200705 TMEM87A transmembrane protein 87A gene DOID:9256 colorectal cancer ISO RGD:1603672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12200750 OR2AK3 olfactory receptor family 2 subfamily AK member 3 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1343468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12200750 OR2AK3 olfactory receptor family 2 subfamily AK member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1343468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12200750 OR2AK3 olfactory receptor family 2 subfamily AK member 3 gene DOID:630 genetic disease ISO RGD:1343468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200750 OR2AK3 olfactory receptor family 2 subfamily AK member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12200750 OR2AK3 olfactory receptor family 2 subfamily AK member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12200754 INSYN2A inhibitory synaptic factor 2A gene DOID:0060390 distal 10q deletion syndrome ISO RGD:2290515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12200754 INSYN2A inhibitory synaptic factor 2A gene DOID:630 genetic disease ISO RGD:2290515 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200771 ABHD1 abhydrolase domain containing 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1322201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12200771 ABHD1 abhydrolase domain containing 1 gene DOID:630 genetic disease ISO RGD:1322201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200795 KTI12 KTI12 chromatin associated homolog gene DOID:630 genetic disease ISO RGD:1603926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200806 UBE2Q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1313256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12200806 UBE2Q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:0060257 dyschromatosis symmetrica hereditaria ISO RGD:1313256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities PMID:22974014|PMID:28492532 12200806 UBE2Q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1313256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12200806 UBE2Q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1313256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12200806 UBE2Q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1313256 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 12200806 UBE2Q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:1540 parathyroid carcinoma ISO RGD:1313256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12200806 UBE2Q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:5812 MHC class II deficiency ISO RGD:1313256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12200806 UBE2Q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:630 genetic disease ISO RGD:1313256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200806 UBE2Q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12200822 SV2A synaptic vesicle glycoprotein 2A gene DOID:12377 spinal muscular atrophy ISO RGD:733212 D RGD:9068941 20211203 RGD protein:decreased expression:transversus abdominis muscle, axon terminus (mouse) PMID:28173138|REF_RGD_ID:11535337 12200822 SV2A synaptic vesicle glycoprotein 2A gene DOID:1540 parathyroid carcinoma ISO RGD:1604842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12200822 SV2A synaptic vesicle glycoprotein 2A gene DOID:630 genetic disease ISO RGD:1604842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200822 SV2A synaptic vesicle glycoprotein 2A gene DOID:9007090 Experimental Seizures ISO RGD:619715 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.L174Q(rat) PMID:27265781|REF_RGD_ID:12792961 12200822 SV2A synaptic vesicle glycoprotein 2A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12200927 SND1 staphylococcal nuclease and tudor domain containing 1 gene DOID:10892 hypospadias ISO RGD:733231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:25741868 12200927 SND1 staphylococcal nuclease and tudor domain containing 1 gene DOID:12849 autistic disorder ISO RGD:733231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior 12200927 SND1 staphylococcal nuclease and tudor domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:733231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12200927 SND1 staphylococcal nuclease and tudor domain containing 1 gene DOID:3307 teratoma ISO RGD:733231 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 12200927 SND1 staphylococcal nuclease and tudor domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12200927 SND1 staphylococcal nuclease and tudor domain containing 1 gene DOID:630 genetic disease ISO RGD:733231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200927 SND1 staphylococcal nuclease and tudor domain containing 1 gene DOID:9005172 Lung Neoplasms ISO RGD:733231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25940438 12200955 EIF2B4 eukaryotic translation initiation factor 2B subunit delta gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:733707 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter | ClinVar Annotator: match by term: Ovarioleukodystrophy PMID:11835386|PMID:12707859|PMID:15054402|PMID:15136673|PMID:15776425|PMID:16998732|PMID:18263758|PMID:20016818|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26467025|PMID:26553438|PMID:27812215|PMID:28008009|PMID:28492532|PMID:32071834|PMID:32180488|PMID:35389136 12200955 EIF2B4 eukaryotic translation initiation factor 2B subunit delta gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:733707 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:11835386|PMID:15054402|PMID:15136673|PMID:15507143|PMID:15776425|PMID:16998732|PMID:18263758|PMID:20016818|PMID:22430157|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26467025|PMID:26553438|PMID:27812215|PMID:28008009|PMID:28334938|PMID:28492532|PMID:32071834|PMID:32180488|PMID:32962729|PMID:33432707|PMID:35389136 12200955 EIF2B4 eukaryotic translation initiation factor 2B subunit delta gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:733707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12200955 EIF2B4 eukaryotic translation initiation factor 2B subunit delta gene DOID:3910 lung adenocarcinoma ISO RGD:733707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24366584 12200955 EIF2B4 eukaryotic translation initiation factor 2B subunit delta gene DOID:630 genetic disease ISO RGD:733707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15054402|PMID:15136673|PMID:15776425|PMID:18263758|PMID:20016818|PMID:22430157|PMID:25741868|PMID:28334938|PMID:28492532 12200955 EIF2B4 eukaryotic translation initiation factor 2B subunit delta gene DOID:9000160 Leukoencephalopathy with Vanishing White Matter 4 ISO RGD:733707 D RGD:7240710 20230505 OMIM 12200955 EIF2B4 eukaryotic translation initiation factor 2B subunit delta gene DOID:9000160 Leukoencephalopathy with Vanishing White Matter 4 ISO RGD:733707 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 4 PMID:11835386|PMID:12707859|PMID:15054402|PMID:15776425|PMID:18263758|PMID:25089094|PMID:25843247|PMID:28492532|PMID:29331873|PMID:33432707 12200955 EIF2B4 eukaryotic translation initiation factor 2B subunit delta gene DOID:9002704 Leukoencephalopathies ISO RGD:733707 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CACH/VWM syndrome | ClinVar Annotator: match by term: Childhood ataxia with diffuse central nervous system hypomyelination PMID:11835386|PMID:15054402|PMID:15136673|PMID:15507143|PMID:15776425|PMID:16998732|PMID:18263758|PMID:20016818|PMID:22430157|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26467025|PMID:26553438|PMID:27812215|PMID:28008009|PMID:28334938|PMID:28492532|PMID:32071834|PMID:32180488|PMID:32962729|PMID:33432707|PMID:35389136 12200955 EIF2B4 eukaryotic translation initiation factor 2B subunit delta gene DOID:9005348 Leukoencephalopathy with Vanishing White Matter 1 ISO RGD:733707 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1 PMID:11835386|PMID:15054402|PMID:15136673|PMID:15507143|PMID:15776425|PMID:16998732|PMID:18263758|PMID:20016818|PMID:22430157|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26467025|PMID:26553438|PMID:27812215|PMID:28008009|PMID:28334938|PMID:28492532|PMID:32071834|PMID:32180488|PMID:32962729|PMID:33432707|PMID:35389136 12200977 WEE1 WEE1 G2 checkpoint kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317355 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:34664776 12200977 WEE1 WEE1 G2 checkpoint kinase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1317355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25125259 12200977 WEE1 WEE1 G2 checkpoint kinase gene DOID:630 genetic disease ISO RGD:1317355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12200998 TEX29 testis expressed 29 gene DOID:2222 factor X deficiency ISO RGD:1353968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12200998 TEX29 testis expressed 29 gene DOID:630 genetic disease ISO RGD:1353968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201011 FLRT3 fibronectin leucine rich transmembrane protein 3 gene DOID:0090093 hypogonadotropic hypogonadism 21 with or without anosmia ISO RGD:1350548 D RGD:7240710 20180130 OMIM 12201011 FLRT3 fibronectin leucine rich transmembrane protein 3 gene DOID:0090093 hypogonadotropic hypogonadism 21 with or without anosmia ISO RGD:1350548 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 21 with or without anosmia PMID:23643382|PMID:25741868|PMID:28492532 12201011 FLRT3 fibronectin leucine rich transmembrane protein 3 gene DOID:13938 amenorrhea ISO RGD:1350548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 12201011 FLRT3 fibronectin leucine rich transmembrane protein 3 gene DOID:1923 disorder of sexual development ISO RGD:1350548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 12201011 FLRT3 fibronectin leucine rich transmembrane protein 3 gene DOID:630 genetic disease ISO RGD:1350548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201011 FLRT3 fibronectin leucine rich transmembrane protein 3 gene DOID:9002189 High Myopia ISO RGD:1350548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12201011 FLRT3 fibronectin leucine rich transmembrane protein 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:1350548 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12201020 CPNE1 copine 1 gene DOID:0080281 schizophrenia 19 ISO RGD:1322452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia 19 PMID:28628109 12201020 CPNE1 copine 1 gene DOID:630 genetic disease ISO RGD:1322452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201040 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:0070253 congenital disorder of glycosylation type IIa ISO RGD:731495 D RGD:7240710 20180130 OMIM 12201040 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:0070253 congenital disorder of glycosylation type IIa ISO RGD:731495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alkuraya syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2A | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa PMID:11228641|PMID:20684000|PMID:22105986|PMID:23806237|PMID:25558065|PMID:25741868|PMID:28492532|PMID:28742265|PMID:8808595 12201040 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:0110612 primary ciliary dyskinesia 10 ISO RGD:731495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 10 PMID:24033266|PMID:25741868|PMID:28492532 12201040 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:731495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:24033266|PMID:25741868|PMID:28492532 12201040 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:731495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12201040 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:9003281 Spontaneous Abortions ISO RGD:731495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12201040 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:9004324 Congenital, Hereditary, and Neonatal Diseases and Abnormalities ISO RGD:731496 D RGD:9068941 20200609 RGD PMID:11805078|REF_RGD_ID:1581206 12201040 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:731495 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12201040 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:9008086 Developmental Disabilities ISO RGD:731495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:20684000|PMID:22105986|PMID:25558065|PMID:28492532|PMID:28742265 12201040 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:9562 primary ciliary dyskinesia ISO RGD:731495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:24033266|PMID:25741868|PMID:28492532 12201045 SLC17A8 solute carrier family 17 member 8 gene DOID:0080855 Parkinsonism ISO RGD:628870 D RGD:9068941 20200609 RGD protein:increased expression:substantia nigra pars reticulata, neuron, perikaryon PMID:17435391|REF_RGD_ID:9999153 12201045 SLC17A8 solute carrier family 17 member 8 gene DOID:0110555 autosomal dominant nonsyndromic deafness 25 ISO RGD:733222 D RGD:7240710 20180130 OMIM 12201045 SLC17A8 solute carrier family 17 member 8 gene DOID:0110555 autosomal dominant nonsyndromic deafness 25 ISO RGD:733222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 25 PMID:11115382|PMID:18674745|PMID:23967202|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26797701|PMID:28492532|PMID:33229591 12201045 SLC17A8 solute carrier family 17 member 8 gene DOID:11446 sciatic neuropathy ISO RGD:628870 D RGD:9068941 20200609 RGD protein:decreased expression:nucleus accumbens PMID:23835161|REF_RGD_ID:9999206 12201045 SLC17A8 solute carrier family 17 member 8 gene DOID:224 transient cerebral ischemia ISO RGD:628870 D RGD:9068941 20200609 RGD PMID:23458738|REF_RGD_ID:9999193 12201045 SLC17A8 solute carrier family 17 member 8 gene DOID:5463 cochlear disease ISO RGD:628870 D RGD:9068941 20200609 RGD PMID:21215254|REF_RGD_ID:9999192 12201045 SLC17A8 solute carrier family 17 member 8 gene DOID:630 genetic disease ISO RGD:733222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 12201045 SLC17A8 solute carrier family 17 member 8 gene DOID:9002211 Hyperalgesia ISO RGD:628870 D RGD:9068941 20200609 RGD protein:increased expression:dorsal horn of spinal cord, neuron PMID:22160634|REF_RGD_ID:9999169 12201045 SLC17A8 solute carrier family 17 member 8 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:733222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant 12201045 SLC17A8 solute carrier family 17 member 8 gene DOID:9784 trichinosis ISO RGD:628870 D RGD:9068941 20200609 RGD protein:increased expression:dorsal horn of spinal cord, dorsal root ganglion PMID:22160634|REF_RGD_ID:9999169 12201061 OLIG1 oligodendrocyte transcription factor 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1350271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12201061 OLIG1 oligodendrocyte transcription factor 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1350271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12201061 OLIG1 oligodendrocyte transcription factor 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1350271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12201061 OLIG1 oligodendrocyte transcription factor 1 gene DOID:630 genetic disease ISO RGD:1350271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201061 OLIG1 oligodendrocyte transcription factor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1552169 D RGD:9068941 20201211 RGD PMID:24941845|REF_RGD_ID:40902822 12201061 OLIG1 oligodendrocyte transcription factor 1 gene DOID:9005698 ZTTK Syndrome ISO RGD:1350271 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 12201067 YBX1 Y-box binding protein 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:732883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12201067 YBX1 Y-box binding protein 1 gene DOID:630 genetic disease ISO RGD:732883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201067 YBX1 Y-box binding protein 1 gene DOID:9000300 Refractory Anemia ISO RGD:732883 D RGD:9068941 20200609 RGD PMID:14604279|REF_RGD_ID:1580637 12201067 YBX1 Y-box binding protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732883 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16012952 12201067 YBX1 Y-box binding protein 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:732883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28077578 12201067 YBX1 Y-box binding protein 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:732883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15703814 12201067 YBX1 Y-box binding protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15703814 12201080 NAPRT nicotinate phosphoribosyltransferase gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1602193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12201080 NAPRT nicotinate phosphoribosyltransferase gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1602193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12201080 NAPRT nicotinate phosphoribosyltransferase gene DOID:4621 holoprosencephaly ISO RGD:1602193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12201080 NAPRT nicotinate phosphoribosyltransferase gene DOID:630 genetic disease ISO RGD:1602193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201097 NGLY1 N-glycanase 1 gene DOID:0060728 NGLY1-deficiency ISO RGD:1318334 D RGD:7240710 20180130 OMIM 12201097 NGLY1 N-glycanase 1 gene DOID:0060728 NGLY1-deficiency ISO RGD:1318334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of deglycosylation | ClinVar Annotator: match by term: Congenital disorder of deglycosylation 1 PMID:16199547|PMID:17576681|PMID:18414213|PMID:22581936|PMID:24088041|PMID:24651605|PMID:25220016|PMID:25356970|PMID:25741868|PMID:25900930|PMID:26350515|PMID:26633545|PMID:26795593|PMID:27388694|PMID:28330790|PMID:28492532|PMID:29419975|PMID:29550355|PMID:30740912|PMID:31311714|PMID:31497478|PMID:31957011|PMID:31965062|PMID:32123317|PMID:32422350|PMID:32576142|PMID:9536098 12201097 NGLY1 N-glycanase 1 gene DOID:0111800 syndromic microphthalmia 12 ISO RGD:1318334 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Microphthalmia, syndromic 12 PMID:24651605|PMID:28492532 12201097 NGLY1 N-glycanase 1 gene DOID:1059 intellectual disability ISO RGD:1318334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24651605|PMID:25220016|PMID:28492532 12201097 NGLY1 N-glycanase 1 gene DOID:630 genetic disease ISO RGD:1318334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24651605|PMID:25356970|PMID:25741868|PMID:26795593|PMID:28330790|PMID:28492532|PMID:31311714|PMID:31497478|PMID:31965062 12201097 NGLY1 N-glycanase 1 gene DOID:9000842 Proteostasis Deficiencies ISO RGD:1308518 D RGD:9068941 20201015 RGD PMID:32259258|REF_RGD_ID:39457703 12201097 NGLY1 N-glycanase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318334 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868|PMID:29550355|PMID:31965062 12201097 NGLY1 N-glycanase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1318334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 12201114 CTR9 CTR9 homolog, Paf1/RNA polymerase II complex component gene DOID:0060476 Perlman syndrome ISO RGD:1322372 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Predisposition to Wilms tumor PMID:25099282|PMID:28492532 12201114 CTR9 CTR9 homolog, Paf1/RNA polymerase II complex component gene DOID:630 genetic disease ISO RGD:1322372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12201114 CTR9 CTR9 homolog, Paf1/RNA polymerase II complex component gene DOID:9003133 Hypertelorism ISO RGD:1322372 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 12201114 CTR9 CTR9 homolog, Paf1/RNA polymerase II complex component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CTR9-related neurodevelopmental disorder PMID:25741868 12201151 SRPRB SRP receptor subunit beta gene DOID:630 genetic disease ISO RGD:1312294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201151 SRPRB SRP receptor subunit beta gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1312294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:736865 D RGD:9068941 20221217 RGD protein:increased expression:lung (human) PMID:29722558|REF_RGD_ID:155791445 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:0050331 LADD syndrome ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: LACRIMOAURICULODENTODIGITAL SYNDROME | ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome PMID:10851026|PMID:11121055|PMID:11390973|PMID:11781872|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16501574|PMID:16838304|PMID:17525745|PMID:18056630|PMID:18414213|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:31502745|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8946174|PMID:8957519|PMID:9002682|PMID:9462761|PMID:9719378 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:0050462 Antley-Bixler syndrome with disordered steroidogenesis ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures PMID:10076886|PMID:10076887|PMID:10406670|PMID:10633130|PMID:10851026|PMID:11121055|PMID:11390973|PMID:11781872|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:15996217|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16838304|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8434615|PMID:8651276|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9462761|PMID:9605588|PMID:9714439|PMID:9719378 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:0050660 Beare-Stevenson cutis gyrata syndrome ISO RGD:736865 D RGD:7240710 20180130 OMIM 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:0050660 Beare-Stevenson cutis gyrata syndrome ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Beare-Stevenson cutis gyrata syndrome | ClinVar Annotator: match by term: Cutis Gyrata syndrome of Beare and Stevenson PMID:10851026|PMID:11121055|PMID:11390973|PMID:11781872|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16531735|PMID:16838304|PMID:17264867|PMID:17525745|PMID:18247426|PMID:18552176|PMID:19610084|PMID:20301628|PMID:20856019|PMID:21367659|PMID:21397175|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24728327|PMID:25157968|PMID:25425289|PMID:25706251|PMID:25741868|PMID:25867380|PMID:25937001|PMID:26325558|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:27079505|PMID:28492532|PMID:31145570|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8696350|PMID:8946174|PMID:8957519|PMID:9002682|PMID:9462761|PMID:9719378 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:0050861 colorectal adenocarcinoma treatment ISO RGD:736865 D RGD:9068941 20221201 RGD human cell line in a mouse model PMID:31255687|REF_RGD_ID:155663557 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:0060321 umbilical hernia ISO RGD:10581 D RGD:9068941 20200609 RGD PMID:21238647|REF_RGD_ID:11567270 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:0080016 spina bifida ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9605588 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9002682 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma PMID:26619011 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:0080216 duodenal atresia ISO RGD:10581 D RGD:9068941 20200609 RGD PMID:15185216|REF_RGD_ID:12801491 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:0081289 Antley-Bixler syndrome ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures PMID:10076886|PMID:10076887|PMID:10406670|PMID:10633130|PMID:10851026|PMID:11121055|PMID:11390973|PMID:11781872|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:15996217|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16838304|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8434615|PMID:8651276|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9462761|PMID:9605588|PMID:9714439|PMID:9719378 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:0081290 Antley-Bixler syndrome without disordered steroidogenesis ISO RGD:736865 D RGD:7240710 20180130 OMIM 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:0081290 Antley-Bixler syndrome without disordered steroidogenesis ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis PMID:10076886|PMID:10076887|PMID:10406670|PMID:10541159|PMID:10633130|PMID:10851026|PMID:11121055|PMID:11390973|PMID:11781872|PMID:12124745|PMID:12884424|PMID:12884434|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15316116|PMID:15389579|PMID:15975938|PMID:15996217|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17525745|PMID:18552176|PMID:20133659|PMID:20301628|PMID:20489451|PMID:21367659|PMID:22238366|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23786770|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25271085|PMID:25741868|PMID:25759925|PMID:25867380|PMID:26362256|PMID:26380986|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7607643|PMID:7668257|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8434615|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9385368|PMID:9462761|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:0090020 split hand-foot malformation ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectrodactyly PMID:25741868 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:0111337 Jackson-Weiss syndrome ISO RGD:736865 D RGD:7240710 20180130 OMIM 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:0111337 Jackson-Weiss syndrome ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome PMID:10541159|PMID:10633130|PMID:10851026|PMID:11121055|PMID:11390973|PMID:11556600|PMID:11781872|PMID:12124745|PMID:12884424|PMID:12884434|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16838304|PMID:17525745|PMID:18552176|PMID:19066959|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:22665975|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24728327|PMID:25157968|PMID:25271085|PMID:25741868|PMID:25759925|PMID:25867380|PMID:26362256|PMID:26380986|PMID:26467025|PMID:26619011|PMID:27481450|PMID:28492532|PMID:31145570|PMID:7581378|PMID:7655462|PMID:7719329|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8528214|PMID:8644708|PMID:8651276|PMID:8946174|PMID:8957519|PMID:9002682|PMID:9385368|PMID:9462761|PMID:9586546|PMID:9677057|PMID:9719378 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:10003 sensorineural hearing loss ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:19461658|PMID:30311386|PMID:34652575 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:10283 prostate cancer ISO RGD:2611 D RGD:9068941 20200609 RGD mRNA:splice variant::shift from Fgfr2IIIb to Fgfr2IIIc in malignancy, restoration of Fgfr2IIIb slows growth PMID:9537256|REF_RGD_ID:2289859 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:10283 prostate cancer ISO RGD:736865 D RGD:9068941 20200609 RGD mRNA:alternative form:prostate:switch from isoform IIIb to IIIc PMID:11170144|REF_RGD_ID:2289746 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:10283 prostate cancer ISO RGD:736865 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:9285567|REF_RGD_ID:2289086 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:736865 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate:isoforms IIIb and IIIc, decrease in IIIb associated with progression to androgen-independence PMID:12111699|REF_RGD_ID:2289728 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:10283 prostate cancer no_association ISO RGD:736865 D RGD:9068941 20200609 RGD DNA:mutation,polymorphism:exons:no mutations or polymorphisms found in patient or cell line DNA to explain changes in expression seen in other studies PMID:11069376|REF_RGD_ID:2289845 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:10486 intestinal atresia ISO RGD:10581 D RGD:9068941 20220825 MouseDO 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:10534 stomach cancer ISO RGD:736865 D RGD:7240710 20220209 OMIM 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:10534 stomach cancer ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10394936|PMID:10851026|PMID:11121055|PMID:11325814|PMID:11390973|PMID:11781872|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16838304|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25759927|PMID:25867380|PMID:26380986|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7655462|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8957519|PMID:9002682|PMID:9462761|PMID:9700203|PMID:9719378 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:10534 stomach cancer severity ISO RGD:736865 D RGD:9068941 20200609 RGD protein:increased expression:stomach (human) PMID:9816310|REF_RGD_ID:12801419 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:10584 retinitis pigmentosa treatment ISO RGD:2611 D RGD:9068941 20200609 RGD PMID:11319911|REF_RGD_ID:12801430 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:1059 intellectual disability ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16465081 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:10762 portal hypertension ISO RGD:2611 D RGD:9068941 20230202 RGD mRNA, protein:decreased expression:esophagus mucosa (rat) PMID:8644008|REF_RGD_ID:155882599 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:10825 essential hypertension sexual_dimorphism ISO RGD:2611 D RGD:9068941 20221217 RGD mRNA, protein:decreased expression:inferior vagus X ganglion, nucleus of solitary tract (rat) PMID:31626954|REF_RGD_ID:155791444 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:10892 hypospadias ISO RGD:2611 D RGD:9068941 20200609 RGD mRNA:decreased expression:male genital tubercle (rat) PMID:19464577|REF_RGD_ID:2314151 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:11054 urinary bladder cancer ISO RGD:736865 D RGD:9068941 20200609 RGD DNA:hypermethylation, loss of heterozygosity, deletions:exon (human) PMID:10602477|REF_RGD_ID:2301193 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:11054 urinary bladder cancer ISO RGD:736865 D RGD:9068941 20200609 RGD associated with Acrocephalosyndactylia/Apert Syndrome (MeSH:D000168); DNA:transversion:cds:758C>G amino acid P253R PMID:16969861|REF_RGD_ID:2289664 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:1107 esophageal carcinoma ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus PMID:25157968|PMID:26619011 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:11934 head and neck cancer ISO RGD:736865 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Head and neck neoplasm PMID:11390973|PMID:12124745|PMID:15389579|PMID:16969861|PMID:17251833|PMID:20489451|PMID:23786770|PMID:24656465|PMID:25741868|PMID:25867380|PMID:28492532|PMID:31145570|PMID:7668257|PMID:7719344|PMID:8651276|PMID:9677057|PMID:9700203 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia ISO RGD:736865 D RGD:7240710 20180130 OMIM 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia ISO RGD:736865 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Syndactylic oxycephaly PMID:10394936|PMID:10618369|PMID:10633130|PMID:10851026|PMID:11121055|PMID:11173845|PMID:11390973|PMID:11781872|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12400058|PMID:12884424|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15975938|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16969861|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:18552176|PMID:18726952|PMID:20133659|PMID:20301628|PMID:20489451|PMID:21367659|PMID:22238366|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23786770|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25271085|PMID:25425289|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:28166811|PMID:28492532|PMID:31145570|PMID:7607643|PMID:7668257|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:9150725|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9536098|PMID:9677057|PMID:9700203|PMID:9719378|PMID:9973282 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Craniofacial-skeletal-dermatologic dysplasia | ClinVar Annotator: match by term: Syndactylic oxycephaly PMID:10394936|PMID:10618369|PMID:10633130|PMID:10851026|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11390973|PMID:11781872|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12357470|PMID:12400058|PMID:12884424|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15975938|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16531735|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:18552176|PMID:18618990|PMID:18726952|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20856019|PMID:21367659|PMID:21397175|PMID:22238366|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23786770|PMID:23787031|PMID:23908597|PMID:24016645|PMID:24036790|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25271085|PMID:25425289|PMID:25706251|PMID:25741868|PMID:25867380|PMID:25937001|PMID:26325558|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:27079505|PMID:27683237|PMID:28492532|PMID:28611549|PMID:30919572|PMID:31145570|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:9002682|PMID:9150725|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9536098|PMID:9677057|PMID:9700203|PMID:9719378|PMID:9973282 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia severity ISO RGD:736865 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P253R (human) PMID:10735635|REF_RGD_ID:12801488 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia treatment ISO RGD:10581 D RGD:9068941 20200609 RGD PMID:17694057|REF_RGD_ID:12801474 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:736865 D RGD:9068941 20221217 RGD protein:increased expression:lung (human) PMID:29722558|REF_RGD_ID:155791445 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:14705 Pfeiffer syndrome ISO RGD:736865 D RGD:7240710 20180130 OMIM 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:14705 Pfeiffer syndrome ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10541159|PMID:10633130|PMID:10851026|PMID:10874645|PMID:10945669|PMID:11121055|PMID:11325814|PMID:11390973|PMID:11781872|PMID:11807866|PMID:12124745|PMID:12400058|PMID:12884424|PMID:12884434|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15523615|PMID:15975938|PMID:15996217|PMID:16158432|PMID:16199547|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16838304|PMID:17525745|PMID:17576681|PMID:17803937|PMID:18541976|PMID:18552176|PMID:18618990|PMID:19066959|PMID:20133659|PMID:20301628|PMID:20503384|PMID:20643727|PMID:21367659|PMID:22238366|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:24016645|PMID:24036790|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25271085|PMID:25361936|PMID:25741868|PMID:25759925|PMID:25759927|PMID:25867380|PMID:26289989|PMID:26362256|PMID:26380986|PMID:26467025|PMID:26619011|PMID:27028366|PMID:27228464|PMID:27481450|PMID:27683237|PMID:27803855|PMID:28492532|PMID:31145570|PMID:31754721|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7719333|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8434615|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9150725|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9531645|PMID:9536098|PMID:9586546|PMID:9605588|PMID:9700203|PMID:9714439|PMID:9719378 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:14768 Saethre-Chotzen syndrome ISO RGD:736865 D RGD:7240710 20180725 OMIM 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:14768 Saethre-Chotzen syndrome ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome PMID:10851026|PMID:11121055|PMID:11390973|PMID:11781872|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16838304|PMID:17264867|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24728327|PMID:25157968|PMID:25425289|PMID:25741868|PMID:25867380|PMID:26325558|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8946174|PMID:8957519|PMID:9002682|PMID:9462761|PMID:9585583|PMID:9719378 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:1612 breast cancer ISO RGD:736865 D RGD:9068941 20200609 RGD DNA:SNP:intron:dbSNP ID rs2981582, p=2X10-76 PMID:17529967|REF_RGD_ID:2289657 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:1612 breast cancer ISO RGD:736865 D RGD:9068941 20200609 RGD sporadic postmenopausal breast cancer; DNA:SNP:intron:dbSNP ID rs1219648, p=1.1x10-10 PMID:17529973|REF_RGD_ID:2289658 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:1612 breast cancer exacerbates ISO RGD:10581 D RGD:9068941 20221208 RGD PMID:23185502|REF_RGD_ID:155663674 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:1657 ventricular septal defect ISO RGD:10581 D RGD:9068941 20221203 RGD PMID:16687131|REF_RGD_ID:155663670 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:1749 squamous cell carcinoma ISO RGD:736865 D RGD:9068941 20200609 RGD cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells PMID:17306351|REF_RGD_ID:2289084 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:1923 disorder of sexual development ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:1936 atherosclerosis treatment ISO RGD:10581 D RGD:9068941 20221217 RGD PMID:24224032|REF_RGD_ID:155791446 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2611 D RGD:9068941 20230202 RGD associated with Experimental Diabetes Mellitus PMID:22432030|REF_RGD_ID:155882598 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:227 ankylosis ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9605588 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:2339 Crouzon syndrome ISO RGD:736865 D RGD:7240710 20180130 OMIM 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:2339 Crouzon syndrome ISO RGD:736865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniofacial dysostosis | ClinVar Annotator: match by term: Craniofacial dysostosis type 1 | ClinVar Annotator: match by term: Crouzon disease | ClinVar Annotator: match by term: Crouzon syndrome PMID:10067911|PMID:10394936|PMID:10541159|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10874645|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11556600|PMID:11711827|PMID:11781872|PMID:11870239|PMID:12124745|PMID:12186468|PMID:12357470|PMID:12477974|PMID:12884424|PMID:12884434|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15793702|PMID:15883293|PMID:15975938|PMID:16061565|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16740155|PMID:16838304|PMID:1697263|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:18552176|PMID:18726952|PMID:19066959|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20503384|PMID:20643727|PMID:21367659|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:22665975|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25361936|PMID:25425289|PMID:25741868|PMID:25759925|PMID:25759927|PMID:25867380|PMID:26325558|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26557159|PMID:26619011|PMID:27028366|PMID:27228464|PMID:27430617|PMID:27481450|PMID:27683237|PMID:28492532|PMID:28611549|PMID:28901406|PMID:29037998|PMID:31145570|PMID:4078868|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7719329|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8755573|PMID:8946174|PMID:8957519|PMID:9002682|PMID:9048930|PMID:9152842|PMID:9169049|PMID:9385368|PMID:9462761|PMID:9521581|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9677057|PMID:9700203|PMID:9719378 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2 related craniosynostosis PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10541159|PMID:10574673|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10874645|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11556600|PMID:11711827|PMID:11781872|PMID:11807866|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12357470|PMID:12400058|PMID:12477974|PMID:12575031|PMID:12575301|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15793702|PMID:15863034|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16199547|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16531735|PMID:16740155|PMID:16838304|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:17803937|PMID:18247426|PMID:18391498|PMID:18541976|PMID:18552176|PMID:18618990|PMID:18726952|PMID:19066959|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:20856019|PMID:21189955|PMID:21367659|PMID:21397175|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:22665975|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24036790|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25129254|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25361936|PMID:25425289|PMID:25706251|PMID:25741868|PMID:25759925|PMID:25759927|PMID:25867380|PMID:25937001|PMID:26289989|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:270283566|PMID:27028366|PMID:27079505|PMID:27228464|PMID:27481450|PMID:27683237|PMID:27803855|PMID:28166811|PMID:28492532|PMID:28611549|PMID:28901406|PMID:29037998|PMID:29109840|PMID:31145570|PMID:4078868|PMID:7558045|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719333|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7795583|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9150725|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2 related craniosynostosis PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10574673|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11711827|PMID:11781872|PMID:11807866|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12357470|PMID:12400058|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15793702|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16740155|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:17803937|PMID:18247426|PMID:18541976|PMID:18552176|PMID:18726952|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:21367659|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25425289|PMID:25741868|PMID:25867380|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:27028366|PMID:27683237|PMID:27803855|PMID:28166811|PMID:28492532|PMID:28611549|PMID:28901406|PMID:31145570|PMID:4078868|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9150725|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2 related craniosynostosis PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10574673|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11711827|PMID:11781872|PMID:11807866|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12357470|PMID:12400058|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15793702|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16740155|PMID:16838304|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:17803937|PMID:18247426|PMID:18541976|PMID:18552176|PMID:18726952|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:21367659|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25425289|PMID:25741868|PMID:25867380|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:27028366|PMID:27683237|PMID:27803855|PMID:28166811|PMID:28492532|PMID:28611549|PMID:28901406|PMID:31145570|PMID:4078868|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9150725|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10574673|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11711827|PMID:11781872|PMID:11807866|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12357470|PMID:12400058|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15793702|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16740155|PMID:16838304|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:17803937|PMID:18247426|PMID:18541976|PMID:18552176|PMID:18726952|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:21367659|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25361936|PMID:25425289|PMID:25741868|PMID:25867380|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:27028366|PMID:27683237|PMID:27803855|PMID:28166811|PMID:28492532|PMID:28611549|PMID:28901406|PMID:31145570|PMID:4078868|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9150725|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10541159|PMID:10574673|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10874645|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11556600|PMID:11711827|PMID:11781872|PMID:11807866|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12186468|PMID:12357470|PMID:12400058|PMID:12477974|PMID:12575301|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15793702|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16199547|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16531735|PMID:16740155|PMID:16838304|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:17803937|PMID:17873121|PMID:18247426|PMID:18391498|PMID:18414213|PMID:18541976|PMID:18552176|PMID:18618990|PMID:18726952|PMID:19066959|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:20856019|PMID:21189955|PMID:21367659|PMID:21397175|PMID:21524234|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:22665975|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24036790|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25129254|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25361936|PMID:25425289|PMID:25706251|PMID:25741868|PMID:25759925|PMID:25759927|PMID:25867380|PMID:25937001|PMID:26289989|PMID:26325558|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26557159|PMID:26619011|PMID:27028366|PMID:27079505|PMID:27228464|PMID:27430617|PMID:27481450|PMID:27527345|PMID:27683237|PMID:27803855|PMID:28492532|PMID:28611549|PMID:28901406|PMID:28990276|PMID:29037998|PMID:29095814|PMID:29109840|PMID:30919572|PMID:31145570|PMID:31502745|PMID:31754721|PMID:32595695|PMID:33937142|PMID:35802133|PMID:36633841|PMID:4078868|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719333|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7795583|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9150725|PMID:9152842|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9531645|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378|PMID:9973282 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:2671 transitional cell carcinoma ISO RGD:736865 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:urinary bladder PMID:9018118|REF_RGD_ID:2301194 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:2871 endometrial carcinoma ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10851026|PMID:11121055|PMID:11390973|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16440883|PMID:16531735|PMID:17525745|PMID:18552176|PMID:20301628|PMID:20856019|PMID:21367659|PMID:21397175|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24489893|PMID:25157968|PMID:25706251|PMID:25741868|PMID:25867380|PMID:25937001|PMID:26380986|PMID:26619011|PMID:27079505|PMID:28492532|PMID:31145570|PMID:7719344|PMID:8651276|PMID:8696350|PMID:9002682|PMID:9462761|PMID:9719378 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:289 endometriosis ISO RGD:736865 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary, epithelial cell PMID:17482184|REF_RGD_ID:2301191 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:289 endometriosis no_association ISO RGD:736865 D RGD:9068941 20200609 RGD DNA:SNPs PMID:18285324|REF_RGD_ID:2301190 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:363 uterine cancer ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:10851026|PMID:11121055|PMID:11390973|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16440883|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:23908597|PMID:24016645|PMID:24489893|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:8651276|PMID:9002682|PMID:9462761|PMID:9719378 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:37 skin disease ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:3717 gastric adenocarcinoma ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:10851026|PMID:11121055|PMID:11390973|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16440883|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24489893|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:8651276|PMID:9002682|PMID:9462761|PMID:9719378 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:736865 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:23786770|PMID:25741868|PMID:9150725 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:3910 lung adenocarcinoma ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:17525745|PMID:18552176|PMID:22238366|PMID:23002168|PMID:23908597|PMID:25157968|PMID:26619011 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:4441 dysgerminoma ISO RGD:736865 D RGD:9068941 20200609 RGD associated with Acrocephalosyndactylia/Apert Syndrome (MeSH:D000168); DNA:transversion,duplication:cds:758C>G amino acid P253R, duplication of 10q26 resulting in one extra copy of FGFR2 PMID:17243131|REF_RGD_ID:2289660 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:4947 cholangiocarcinoma ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26258846 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:5082 liver cirrhosis ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17692400 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:5517 stomach carcinoma treatment ISO RGD:736865 D RGD:9068941 20221201 RGD human cell line in a mouse model PMID:31255687|REF_RGD_ID:155663557 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:5844 myocardial infarction ameliorates ISO RGD:10581 D RGD:9068941 20221201 RGD PMID:19358330|REF_RGD_ID:155663664 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:6171 uterine carcinosarcoma ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:10851026|PMID:11121055|PMID:11390973|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16440883|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24489893|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:8651276|PMID:9002682|PMID:9462761|PMID:9719378 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:630 genetic disease ISO RGD:736865 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10067911|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:11173845|PMID:11343323|PMID:11781872|PMID:12884424|PMID:1519658|PMID:15793702|PMID:15883293|PMID:16061565|PMID:16418739|PMID:16501574|PMID:16740155|PMID:17693524|PMID:18726952|PMID:19610084|PMID:22387015|PMID:24127277|PMID:24486773|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25741868|PMID:26362256|PMID:26446305|PMID:26573129|PMID:27028366|PMID:27240702|PMID:28492532|PMID:28901406|PMID:4078868|PMID:7573032|PMID:7655462|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8528214|PMID:8755573|PMID:9585583 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:674 cleft palate ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255|PMID:29526646 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:736865 D RGD:9068941 20200820 RGD associated with hepatitis B;DNA:SNPs: promoter, intron:rs308379, rs1219648 (human) PMID:30952770|REF_RGD_ID:38501096 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:7843 female breast carcinoma treatment ISO RGD:736865 D RGD:9068941 20221201 RGD human cell line in a mouse model PMID:31255687|REF_RGD_ID:155663557 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:8632 Kaposi's sarcoma ISO RGD:736865 D RGD:9068941 20221203 RGD mRNA:increased expression:zone of skin (human) PMID:18804962|REF_RGD_ID:155663668 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:8634 prostate carcinoma in situ ISO RGD:10581 D RGD:9068941 20200609 RGD PMID:14695195|REF_RGD_ID:2301192 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736865 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:snp:intron:c.109+7033T>A (rs1219648) (human) PMID:20640597|REF_RGD_ID:7394846 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9000146 Plaque, Atherosclerotic exacerbates ISO RGD:736865 D RGD:9068941 20221201 RGD mRNA, protein:decreased expression:carotid artery segment (human) PMID:24075588|REF_RGD_ID:155663561 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:736865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Gastric neoplasm | ClinVar Annotator: match by term: Stomach Neoplasms PMID:11781872|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16838304|PMID:24127277|PMID:25741868|PMID:28492532|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8946174|PMID:8957519 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9000509 Epstein-Barr Virus Infections no_association ISO RGD:736865 D RGD:9068941 20200813 RGD DNA:missense mutation:cds:(rs755793) (human) PMID:29446487|REF_RGD_ID:38500242 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9000967 Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development ISO RGD:736865 D RGD:7240710 20180130 OMIM 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9000967 Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND IMPAIRED INTELLECTUAL DEVELOPMENT PMID:10851026|PMID:11121055|PMID:11390973|PMID:11781872|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16061565|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16838304|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8946174|PMID:8957519|PMID:9002682|PMID:9169049|PMID:9462761|PMID:9719378 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9001258 Bent Bone Dysplasia Syndrome 1 ISO RGD:736865 D RGD:7240710 20180130 OMIM 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9001258 Bent Bone Dysplasia Syndrome 1 ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: BENT BONE DYSPLASIA SYNDROME 1 PMID:10851026|PMID:11121055|PMID:11390973|PMID:11781872|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16838304|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22387015|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26446305|PMID:26467025|PMID:26573129|PMID:26619011|PMID:27240702|PMID:28492532|PMID:31145570|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8946174|PMID:8957519|PMID:9002682|PMID:9462761|PMID:9719378 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9001347 Leg Ulcer ISO RGD:736865 D RGD:9068941 20221201 RGD associated with chronic venous insufficiency;DNA:SNP:3' utr: (human) PMID:15854058|REF_RGD_ID:155663562 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9001471 Anorectal Malformations ISO RGD:2611 D RGD:9068941 20200609 RGD mRNA:decreased expression:rectum (rat) PMID:26514922|REF_RGD_ID:11052641 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9001519 Acneiform Eruptions ISO RGD:736865 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.S252W (human) PMID:18410418|REF_RGD_ID:12801492 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9001553 Spinal Cord Compression ISO RGD:2611 D RGD:9068941 20221208 RGD protein:increased expression:spinal cord (rat) PMID:28981091|REF_RGD_ID:155782905 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9001946 Skin Abnormalities ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10631169 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736865 D RGD:9068941 20200609 RGD epithelial ovarian cancer (OMIM:604370); mRNA:increased expression:ovary PMID:11593393|REF_RGD_ID:2289733 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9003133 Hypertelorism ISO RGD:736865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:11781872|PMID:12884424|PMID:20643727|PMID:23348274|PMID:23754559|PMID:25271085|PMID:25741868|PMID:27228464|PMID:27683237|PMID:28492532|PMID:7874170 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:736865 D RGD:9068941 20200609 RGD cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells PMID:17306351|REF_RGD_ID:2289084 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9003730 Chemical Burns ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation PMID:10851026|PMID:11121055|PMID:11390973|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16440883|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:23908597|PMID:24016645|PMID:24489893|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:8651276|PMID:9002682|PMID:9462761|PMID:9719378 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9004309 Congenital Aural Atresia ISO RGD:736865 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Aural atresia, congenital PMID:23786770|PMID:25741868|PMID:9150725 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:10581 D RGD:9068941 20221201 RGD associated with hypertension PMID:16549517|REF_RGD_ID:155663564 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9004849 LADD Syndrome 1 ISO RGD:736865 D RGD:7240710 20230111 OMIM 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17311802 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nasopharyngeal Neoplasms | ClinVar Annotator: match by term: Nasopharyngeal neoplasm PMID:17525745|PMID:18552176|PMID:22238366|PMID:23002168|PMID:23908597|PMID:25157968|PMID:26619011 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10581 D RGD:9068941 20221203 RGD protein:increased phosphorylation:kidney (mouse) PMID:20591940|REF_RGD_ID:155663667 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9006223 Kidney Reperfusion Injury ameliorates ISO RGD:10581 D RGD:9068941 20221208 RGD PMID:29344510|REF_RGD_ID:155782904 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9006223 Kidney Reperfusion Injury exacerbates ISO RGD:10581 D RGD:9068941 20221208 RGD PMID:32523960|REF_RGD_ID:155782882 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9006223 Kidney Reperfusion Injury exacerbates ISO RGD:2611 D RGD:9068941 20230128 RGD PMID:22688984|REF_RGD_ID:155882537 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9006287 Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Metaphyseal dysplasia, anetoderma, and optic atrophy PMID:10851026|PMID:11121055|PMID:11390973|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16440883|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24489893|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:8651276|PMID:9002682|PMID:9462761|PMID:9719378 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9006294 Congenital Limb Deformities ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10631169 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:736865 D RGD:9068941 20221201 RGD mRNA:increased expression:lung (rat) PMID:35600952|REF_RGD_ID:155663563 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9007653 Multiple Abnormalities ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10631169 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Endometrial neoplasm PMID:10851026|PMID:11121055|PMID:11390973|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16440883|PMID:16531735|PMID:17525745|PMID:18247426|PMID:18552176|PMID:20301628|PMID:20856019|PMID:21367659|PMID:21397175|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:25157968|PMID:25706251|PMID:25741868|PMID:25867380|PMID:25937001|PMID:26380986|PMID:26619011|PMID:27079505|PMID:28492532|PMID:31145570|PMID:7719344|PMID:8651276|PMID:8696350|PMID:9002682|PMID:9462761|PMID:9719378 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9007715 Endometrial Neoplasms susceptibility ISO RGD:736865 D RGD:9068941 20200609 RGD DNA:SNP PMID:18785201|REF_RGD_ID:2301188 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9008082 Plagiocephaly, Nonsynostotic ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9152842 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:736865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:10851026|PMID:11781872|PMID:15316116|PMID:15523615|PMID:16158432|PMID:16418739|PMID:16838304|PMID:17264867|PMID:17803937|PMID:18541976|PMID:20133659|PMID:22558232|PMID:24127277|PMID:24728327|PMID:25271085|PMID:25425289|PMID:25741868|PMID:26325558|PMID:26429889|PMID:26467025|PMID:28492532|PMID:7607643|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8650126|PMID:8755573|PMID:8957519 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:736865 D RGD:9068941 20200609 RGD associated with Craniosynostoses;DNA:missense mutations:cds:p.C342R, p.S252W (human) PMID:27481450|REF_RGD_ID:12801473 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:2611 D RGD:9068941 20200609 RGD associated with Esophageal Atresia;mRNA:decreased expression: tracheoesophageal septum, epithelium, mesenchyme (rat) PMID:15065023|REF_RGD_ID:12801427 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:10581 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.S250W (mouse) PMID:21538817|REF_RGD_ID:11251832 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10631169|PMID:16465081|PMID:18082115 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:17525745|PMID:18552176|PMID:22238366|PMID:23002168|PMID:23908597|PMID:25157968|PMID:26619011 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9009007 Tooth Abnormalities ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10631169 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9256 colorectal cancer ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9296 cleft lip ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 12201171 FGFR2 fibroblast growth factor receptor 2 gene DOID:9923 developmental coordination disorder ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16465081 12201171 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10533 viral pneumonia ISO RGD:10581 D RGD:9068941 20210611 RGD protein:increased expression:epithelial stem/progenitor cells (mouse) PMID:27322618|REF_RGD_ID:127284849 12201218 IFNA5 interferon, alpha 5 gene DOID:0080642 Middle East respiratory syndrome disease_progression ISO RGD:1621621 D RGD:9068941 20230420 RGD PMID:30626685|REF_RGD_ID:30309198 12201218 IFNA5 interferon, alpha 5 gene DOID:5419 schizophrenia ISO RGD:1345453 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12201218 IFNA5 interferon, alpha 5 gene DOID:630 genetic disease ISO RGD:1345453 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201221 AVIL advillin gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:731808 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:25741868|PMID:29058690 12201221 AVIL advillin gene DOID:0111486 combined oxidative phosphorylation deficiency 3 ISO RGD:731808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 PMID:25741868 12201221 AVIL advillin gene DOID:0112267 nephrotic syndrome type 21 ISO RGD:731808 D RGD:7240710 20191030 OMIM 12201221 AVIL advillin gene DOID:0112267 nephrotic syndrome type 21 ISO RGD:731808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 21 PMID:25741868|PMID:29058690 12201221 AVIL advillin gene DOID:630 genetic disease ISO RGD:731808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201250 SLC25A17 solute carrier family 25 member 17 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1322988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12201250 SLC25A17 solute carrier family 25 member 17 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1322988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:15706485|PMID:24476420|PMID:28492532 12201250 SLC25A17 solute carrier family 25 member 17 gene DOID:630 genetic disease ISO RGD:1322988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201263 MGAT4A alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A gene DOID:0080600 COVID-19 ISO RGD:1313803 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12201263 MGAT4A alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A gene DOID:1793 pancreatic cancer ISO RGD:1313803 D RGD:9068941 20200609 RGD PMID:16434023|REF_RGD_ID:2317701 12201263 MGAT4A alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A gene DOID:630 genetic disease ISO RGD:1313803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201290 PTN pleiotrophin gene DOID:11446 sciatic neuropathy ISO RGD:3444 D RGD:9068941 20200609 RGD mRNA:altered expression:dorsal root ganglia (rat) PMID:18365878|REF_RGD_ID:9831453 12201290 PTN pleiotrophin gene DOID:11832 visual epilepsy ISO RGD:3444 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus, piriform cortex (rat) PMID:8453763|REF_RGD_ID:9831456 12201290 PTN pleiotrophin gene DOID:13619 extrahepatic cholestasis ISO RGD:3444 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:18225978|REF_RGD_ID:2316551 12201290 PTN pleiotrophin gene DOID:14330 Parkinson's disease treatment ISO RGD:3444 D RGD:9068941 20200609 RGD PMID:19615368|REF_RGD_ID:10044022 12201290 PTN pleiotrophin gene DOID:224 transient cerebral ischemia ISO RGD:3444 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex, vasculature, macrophage (rat) PMID:9570800|REF_RGD_ID:9831440 12201290 PTN pleiotrophin gene DOID:305 carcinoma ISO RGD:736479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12201290 PTN pleiotrophin gene DOID:3068 glioblastoma ISO RGD:736479 D RGD:9068941 20220310 RGD protein:increased expression:brain (human) PMID:14692702|REF_RGD_ID:151660507 12201290 PTN pleiotrophin gene DOID:3950 adrenal carcinoma ISO RGD:736479 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:1464602|REF_RGD_ID:9831442 12201290 PTN pleiotrophin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12201290 PTN pleiotrophin gene DOID:5082 liver cirrhosis ISO RGD:3444 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:18381592|REF_RGD_ID:9834946 12201290 PTN pleiotrophin gene DOID:5844 myocardial infarction ISO RGD:3444 D RGD:9068941 20200609 RGD protein:increased expression:myocardium (rat) PMID:17925408|REF_RGD_ID:10044023 12201290 PTN pleiotrophin gene DOID:630 genetic disease ISO RGD:736479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201290 PTN pleiotrophin gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12201290 PTN pleiotrophin gene DOID:9000641 Pain severity ISO RGD:11190 D RGD:9068941 20200609 RGD PMID:20826137|REF_RGD_ID:10043829 12201290 PTN pleiotrophin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12201290 PTN pleiotrophin gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3444 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord (rat) PMID:9814819|REF_RGD_ID:9831448 12201290 PTN pleiotrophin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3444 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle (rat) PMID:21224495|REF_RGD_ID:10043833 12201290 PTN pleiotrophin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12201290 PTN pleiotrophin gene DOID:9007633 Body Weight ISO RGD:736479 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36566969 12201290 PTN pleiotrophin gene DOID:9008444 Skeletal Muscle Injuries ISO RGD:3444 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:soleus muscle (rat) PMID:15160487|REF_RGD_ID:10044016 12201305 NDUFA7 NADH:ubiquinone oxidoreductase subunit A7 gene DOID:0080490 mucolipidosis type IV ISO RGD:1312128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 12201305 NDUFA7 NADH:ubiquinone oxidoreductase subunit A7 gene DOID:12849 autistic disorder ISO RGD:1312128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12201305 NDUFA7 NADH:ubiquinone oxidoreductase subunit A7 gene DOID:630 genetic disease ISO RGD:1312128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201313 ZNF385D zinc finger protein 385D gene DOID:303 substance-related disorder ISO RGD:1354143 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12201313 ZNF385D zinc finger protein 385D gene DOID:630 genetic disease ISO RGD:1354143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201313 ZNF385D zinc finger protein 385D gene DOID:670 amphetamine abuse ISO RGD:1354143 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12201338 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1349945 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12201338 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:0110409 retinitis pigmentosa 46 ISO RGD:1349945 D RGD:7240710 20180130 OMIM 12201338 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:0110409 retinitis pigmentosa 46 ISO RGD:1349945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 46 PMID:18806796|PMID:25741868|PMID:28492532|PMID:31736247 12201338 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:10584 retinitis pigmentosa ISO RGD:1349945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 12201338 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1349945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12201338 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:630 genetic disease ISO RGD:1349945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12201338 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:9000217 Stomach Neoplasms ISO RGD:1349945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12201338 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:9000918 Disease Progression ISO RGD:1349945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12201357 MAPKAPK5 MAPK activated protein kinase 5 gene DOID:630 genetic disease ISO RGD:1354160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201357 MAPKAPK5 MAPK activated protein kinase 5 gene DOID:9004830 NEUROCARDIOFACIODIGITAL SYNDROME ISO RGD:1354160 D RGD:7240710 20220629 OMIM 12201357 MAPKAPK5 MAPK activated protein kinase 5 gene DOID:9004830 NEUROCARDIOFACIODIGITAL SYNDROME ISO RGD:1354160 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurocardiofaciodigital syndrome PMID:25741868|PMID:33442026 12201379 RPAP3 RNA polymerase II associated protein 3 gene DOID:630 genetic disease ISO RGD:1603005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201399 MTPAP mitochondrial poly(A) polymerase gene DOID:0050943 spastic ataxia 4 ISO RGD:1322070 D RGD:7240710 20180130 OMIM 12201399 MTPAP mitochondrial poly(A) polymerase gene DOID:0050943 spastic ataxia 4 ISO RGD:1322070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia 4 PMID:20970105|PMID:24651433|PMID:25008111|PMID:25741868|PMID:26319014|PMID:26467025|PMID:28492532|PMID:31779033 12201399 MTPAP mitochondrial poly(A) polymerase gene DOID:0050952 spastic ataxia ISO RGD:1322070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 12201399 MTPAP mitochondrial poly(A) polymerase gene DOID:1909 melanoma ISO RGD:1322070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12201399 MTPAP mitochondrial poly(A) polymerase gene DOID:630 genetic disease ISO RGD:1322070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12201412 GPR158 G protein-coupled receptor 158 gene DOID:630 genetic disease ISO RGD:1314117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201412 GPR158 G protein-coupled receptor 158 gene DOID:684 hepatocellular carcinoma ISO RGD:1314117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12201427 STAM signal transducing adaptor molecule gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1320313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12201427 STAM signal transducing adaptor molecule gene DOID:630 genetic disease ISO RGD:1320313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201427 STAM signal transducing adaptor molecule gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1320313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 12201454 GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 gene DOID:1059 intellectual disability ISO RGD:732908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12201454 GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 gene DOID:12704 ataxia telangiectasia ISO RGD:732908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12201454 GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 gene DOID:630 genetic disease ISO RGD:732908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201454 GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:732908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12201454 GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 12201454 GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 12201470 CTU2 cytosolic thiouridylase subunit 2 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1604165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 12201470 CTU2 cytosolic thiouridylase subunit 2 gene DOID:0080205 CAKUT ISO RGD:1604165 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:28492532|PMID:30143558 12201470 CTU2 cytosolic thiouridylase subunit 2 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1604165 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12201470 CTU2 cytosolic thiouridylase subunit 2 gene DOID:14780 KBG syndrome ISO RGD:1604165 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 12201470 CTU2 cytosolic thiouridylase subunit 2 gene DOID:630 genetic disease ISO RGD:1604165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12201470 CTU2 cytosolic thiouridylase subunit 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1604165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 12201470 CTU2 cytosolic thiouridylase subunit 2 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1604165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12201470 CTU2 cytosolic thiouridylase subunit 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1604165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 12201470 CTU2 cytosolic thiouridylase subunit 2 gene DOID:9006205 Animal Disease Models ISO RGD:1604165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 12201470 CTU2 cytosolic thiouridylase subunit 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1604165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 12201470 CTU2 cytosolic thiouridylase subunit 2 gene DOID:9009244 Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome ISO RGD:1604165 D RGD:7240710 20190315 OMIM 12201470 CTU2 cytosolic thiouridylase subunit 2 gene DOID:9009244 Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome ISO RGD:1604165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome PMID:25081361|PMID:25741868|PMID:26633546|PMID:27480277|PMID:28492532|PMID:31301155 12201489 GMPR2 guanosine monophosphate reductase 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1343245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12201489 GMPR2 guanosine monophosphate reductase 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1343245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12201489 GMPR2 guanosine monophosphate reductase 2 gene DOID:299 adenocarcinoma ISO RGD:1343245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 12201489 GMPR2 guanosine monophosphate reductase 2 gene DOID:630 genetic disease ISO RGD:1343245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201489 GMPR2 guanosine monophosphate reductase 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1343245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 12201489 GMPR2 guanosine monophosphate reductase 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1343245 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12201489 GMPR2 guanosine monophosphate reductase 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343245 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12201506 OR6F1 olfactory receptor family 6 subfamily F member 1 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1352611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12201506 OR6F1 olfactory receptor family 6 subfamily F member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1352611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12201506 OR6F1 olfactory receptor family 6 subfamily F member 1 gene DOID:630 genetic disease ISO RGD:1352611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201506 OR6F1 olfactory receptor family 6 subfamily F member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12201506 OR6F1 olfactory receptor family 6 subfamily F member 1 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1352611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 12201506 OR6F1 olfactory receptor family 6 subfamily F member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12201509 SDC1 syndecan 1 gene DOID:0080600 COVID-19 ISO RGD:730864 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12201509 SDC1 syndecan 1 gene DOID:1168 familial hyperlipidemia ISO RGD:3648 D RGD:9068941 20200609 RGD PMID:17403197|REF_RGD_ID:1643125 12201509 SDC1 syndecan 1 gene DOID:1790 malignant mesothelioma ISO RGD:730864 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27032653 12201509 SDC1 syndecan 1 gene DOID:2843 long QT syndrome ISO RGD:730864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12201509 SDC1 syndecan 1 gene DOID:3910 lung adenocarcinoma ISO RGD:730864 D RGD:9068941 20220812 RGD mRNA:increased expression:lung (human) PMID:23374247|REF_RGD_ID:151708716 12201509 SDC1 syndecan 1 gene DOID:4195 hyperglycemia ISO RGD:730864 D RGD:9068941 20200609 RGD protein:decreased expression:blood vessel endothelial cell PMID:16810465|REF_RGD_ID:1643127 12201509 SDC1 syndecan 1 gene DOID:576 proteinuria ISO RGD:3648 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus PMID:16622173|REF_RGD_ID:1643128 12201509 SDC1 syndecan 1 gene DOID:5844 myocardial infarction ISO RGD:3648 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium PMID:9237025|REF_RGD_ID:2311712 12201509 SDC1 syndecan 1 gene DOID:630 genetic disease ISO RGD:730864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201509 SDC1 syndecan 1 gene DOID:8567 Hodgkin's lymphoma ISO RGD:730864 D RGD:9068941 20200609 RGD protein:altered expression:tumor (human) PMID:9746758|REF_RGD_ID:9743928 12201509 SDC1 syndecan 1 gene DOID:9000242 Lymphoma, AIDS-Related ISO RGD:730864 D RGD:9068941 20200609 RGD protein:altered expression:tumor (human) PMID:11157493|REF_RGD_ID:9743929 12201509 SDC1 syndecan 1 gene DOID:9005372 Inflammation ISO RGD:3648 D RGD:9068941 20200609 RGD protein:decreased glycosylation:gastrointestinal system mesentery, venule PMID:14704229|REF_RGD_ID:1643133 12201509 SDC1 syndecan 1 gene DOID:9970 obesity ISO RGD:3648 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11522680|REF_RGD_ID:1643129 12201519 ZBTB3 zinc finger and BTB domain containing 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1353634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12201519 ZBTB3 zinc finger and BTB domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1353634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12201519 ZBTB3 zinc finger and BTB domain containing 3 gene DOID:630 genetic disease ISO RGD:1353634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201525 PNLDC1 PARN like ribonuclease domain containing exonuclease 1 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1318591 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 12201525 PNLDC1 PARN like ribonuclease domain containing exonuclease 1 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1318591 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 12201525 PNLDC1 PARN like ribonuclease domain containing exonuclease 1 gene DOID:0112338 spermatogenic failure 57 ISO RGD:1318591 D RGD:7240710 20210922 OMIM 12201525 PNLDC1 PARN like ribonuclease domain containing exonuclease 1 gene DOID:0112338 spermatogenic failure 57 ISO RGD:1318591 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 57 PMID:25741868|PMID:34347949|PMID:35476664 12201525 PNLDC1 PARN like ribonuclease domain containing exonuclease 1 gene DOID:14228 oligospermia ISO RGD:1318591 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Oligospermia PMID:25741868 12201525 PNLDC1 PARN like ribonuclease domain containing exonuclease 1 gene DOID:630 genetic disease ISO RGD:1318591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201548 C1H19orf18 chromosome 1 C19orf18 homolog gene DOID:303 substance-related disorder ISO RGD:1342903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12201561 APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 gene DOID:0060857 septooptic dysplasia ISO RGD:1607055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:28492532|PMID:32796691 12201561 APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 gene DOID:0111111 maturity-onset diabetes of the young type 14 ISO RGD:1607055 D RGD:7240710 20180130 OMIM 12201561 APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 gene DOID:0111111 maturity-onset diabetes of the young type 14 ISO RGD:1607055 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 14 PMID:25741868|PMID:26073777|PMID:28492532 12201561 APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 gene DOID:630 genetic disease ISO RGD:1607055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12201561 APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1607055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12201561 APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1607055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 12201592 TTC21A tetratricopeptide repeat domain 21A gene DOID:0111927 spermatogenic failure 37 ISO RGD:1348204 D RGD:7240710 20190612 OMIM 12201592 TTC21A tetratricopeptide repeat domain 21A gene DOID:0111927 spermatogenic failure 37 ISO RGD:1348204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 37 PMID:30929735 12201592 TTC21A tetratricopeptide repeat domain 21A gene DOID:630 genetic disease ISO RGD:1348204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201622 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:733493 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12201622 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:0111248 cerebrocostomandibular syndrome ISO RGD:733493 D RGD:7240710 20180130 OMIM 12201622 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:0111248 cerebrocostomandibular syndrome ISO RGD:733493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebro-costo-mandibular syndrome PMID:25047197|PMID:25504470|PMID:25741868|PMID:26240113|PMID:26971886 12201622 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:1059 intellectual disability ISO RGD:733493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities 12201622 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:3492 mixed connective tissue disease ISO RGD:733493 D RGD:9068941 20200609 RGD PMID:2968364|REF_RGD_ID:10448928 12201622 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:3910 lung adenocarcinoma severity ISO RGD:733493 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:22876301|REF_RGD_ID:10768834 12201622 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:733493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12201622 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:733493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pierre Robin Syndrome 12201622 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:630 genetic disease ISO RGD:733493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201622 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:9000217 Stomach Neoplasms ISO RGD:733493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12201622 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:9000918 Disease Progression ISO RGD:733493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12201633 CCNJ cyclin J gene DOID:0060027 agammaglobulinemia 4 ISO RGD:1314992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:28492532 12201633 CCNJ cyclin J gene DOID:630 genetic disease ISO RGD:1314992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201646 PDE7A phosphodiesterase 7A gene DOID:630 genetic disease ISO RGD:68570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201669 NKX2-4 NK2 homeobox 4 gene DOID:630 genetic disease ISO RGD:1343785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201675 TP53I13 tumor protein p53 inducible protein 13 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1605319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 12201675 TP53I13 tumor protein p53 inducible protein 13 gene DOID:630 genetic disease ISO RGD:1605319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201675 TP53I13 tumor protein p53 inducible protein 13 gene DOID:9008582 Developmental Disease ISO RGD:1605319 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12201693 P2RY11 purinergic receptor P2Y11 gene DOID:630 genetic disease ISO RGD:1346111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201693 P2RY11 purinergic receptor P2Y11 gene DOID:8986 narcolepsy ISO RGD:1346111 D RGD:9068941 20201203 CTD CTD Direct Evidence: marker/mechanism PMID:21170044 12201693 P2RY11 purinergic receptor P2Y11 gene DOID:9004136 Cataplexy and Narcolepsy ISO RGD:1346111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataplexy and narcolepsy PMID:25669430 12201698 PI4K2B phosphatidylinositol 4-kinase type 2 beta gene DOID:630 genetic disease ISO RGD:1602326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201711 SLC17A1 solute carrier family 17 member 1 gene DOID:630 genetic disease ISO RGD:1350724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201711 SLC17A1 solute carrier family 17 member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 12201749 CDH23 cadherin related 23 gene DOID:0050439 Usher syndrome ISO RGD:733851 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:15353998|PMID:15537665|PMID:15660226|PMID:16199547|PMID:16281288|PMID:16679490|PMID:16963483|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18348277|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19375528|PMID:19683999|PMID:20146813|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21078986|PMID:21174530|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21738395|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22607986|PMID:2289998|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25262649|PMID:25279224|PMID:25333064|PMID:25356970|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:25991456|PMID:26226137|PMID:26264712|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26681316|PMID:26763877|PMID:26969326|PMID:27018795|PMID:2706105|PMID:27068579|PMID:27349180|PMID:27460420|PMID:27583405|PMID:27743452|PMID:27792758|PMID:27884173|PMID:28483220|PMID:28492532|PMID:28501645|PMID:28847902|PMID:28912962|PMID:29148562|PMID:29343940|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30718709|PMID:30733538|PMID:31054281|PMID:31152317|PMID:31445392|PMID:32467589|PMID:32645618|PMID:32747562|PMID:32842620|PMID:32991204|PMID:34837038|PMID:35020051|PMID:35186827|PMID:35802133|PMID:36633841|PMID:9536098 12201749 CDH23 cadherin related 23 gene DOID:0050563 nonsyndromic deafness ISO RGD:733851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:15660226|PMID:16679490|PMID:17850630|PMID:18429043|PMID:19683999|PMID:21078986|PMID:21228398|PMID:21569298|PMID:22135276|PMID:22443853|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24618850|PMID:24767429|PMID:25279224|PMID:25474345|PMID:25741868|PMID:25963016|PMID:26264712|PMID:26467025|PMID:26763877|PMID:27460420|PMID:27583405|PMID:27792758|PMID:28492532|PMID:29343940|PMID:30029624|PMID:30311386|PMID:30367262|PMID:30718709|PMID:32467589|PMID:32860223 12201749 CDH23 cadherin related 23 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:733851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:15353998|PMID:16199547|PMID:16679490|PMID:17407589|PMID:18429043|PMID:19683999|PMID:20513143|PMID:20613545|PMID:21436283|PMID:21569298|PMID:21940737|PMID:22899989|PMID:23804846|PMID:24033266|PMID:24498627|PMID:25404053|PMID:25741868|PMID:25963016|PMID:26763877|PMID:27573290|PMID:28492532|PMID:29148562|PMID:30303587|PMID:31445392|PMID:32645618|PMID:32842620|PMID:8894709 12201749 CDH23 cadherin related 23 gene DOID:0080046 Stickler syndrome ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stickler syndrome PMID:28492532|PMID:30311386 12201749 CDH23 cadherin related 23 gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:733851 D RGD:7240710 20180130 OMIM 12201749 CDH23 cadherin related 23 gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:733851 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:12910270|PMID:15353998|PMID:15537665|PMID:15660226|PMID:15829536|PMID:16199547|PMID:16281288|PMID:16679490|PMID:16963483|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18348277|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19375528|PMID:19683999|PMID:19888295|PMID:20146813|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21078986|PMID:21174530|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21738395|PMID:21917145|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22607986|PMID:2289998|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23804846|PMID:23967202|PMID:24006325|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25262649|PMID:25279224|PMID:25333064|PMID:25356970|PMID:25373420|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:26226137|PMID:26264712|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26633542|PMID:26763877|PMID:26969326|PMID:27018795|PMID:2706105|PMID:27068579|PMID:27349180|PMID:27460420|PMID:27583405|PMID:27583663|PMID:27610647|PMID:27743452|PMID:27792758|PMID:27884173|PMID:28383030|PMID:28483220|PMID:28492532|PMID:28501645|PMID:28847902|PMID:28912962|PMID:29148562|PMID:29343940|PMID:29568747|PMID:29889784|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30123251|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30622556|PMID:30718709|PMID:30733538|PMID:31054281|PMID:31152317|PMID:31445392|PMID:31541171|PMID:31850270|PMID:32238869|PMID:32467589|PMID:32747562|PMID:32842620|PMID:32860223|PMID:32991204|PMID:34906502|PMID:35020051|PMID:35186827|PMID:35802133|PMID:36633841|PMID:9536098 12201749 CDH23 cadherin related 23 gene DOID:0110826 Usher syndrome type 1 ISO RGD:733851 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:15353998|PMID:15537665|PMID:15660226|PMID:16199547|PMID:16281288|PMID:16679490|PMID:16963483|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18348277|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19375528|PMID:19683999|PMID:20146813|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21078986|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21738395|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22607986|PMID:2289998|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23767834|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25211151|PMID:25231367|PMID:25262649|PMID:25279224|PMID:25356970|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:25991456|PMID:26226137|PMID:26264712|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26763877|PMID:26969326|PMID:2706105|PMID:27068579|PMID:27349180|PMID:27460420|PMID:27583405|PMID:27583663|PMID:27610647|PMID:27743452|PMID:27792758|PMID:27884173|PMID:28383030|PMID:28413019|PMID:28483220|PMID:28492532|PMID:28847902|PMID:28912962|PMID:29148562|PMID:29343940|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30123251|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30718709|PMID:30733538|PMID:31054281|PMID:31152317|PMID:31231422|PMID:31445392|PMID:32467589|PMID:32645618|PMID:32991204|PMID:33316915|PMID:33924653|PMID:34837038|PMID:35020051|PMID:35186827|PMID:9536098 12201749 CDH23 cadherin related 23 gene DOID:0110827 Usher syndrome type 2 ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2 PMID:25741868 12201749 CDH23 cadherin related 23 gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:733851 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:12075507|PMID:16963483|PMID:18429043|PMID:19683999|PMID:21174530|PMID:21228398|PMID:21569298|PMID:22135276|PMID:22995991|PMID:24033266|PMID:25474345|PMID:25741868|PMID:26467025|PMID:26969326|PMID:27018795|PMID:28492532|PMID:30029624|PMID:30718709 12201749 CDH23 cadherin related 23 gene DOID:0110831 Usher syndrome type 1D ISO RGD:733851 D RGD:7240710 20180130 OMIM 12201749 CDH23 cadherin related 23 gene DOID:0110831 Usher syndrome type 1D ISO RGD:733851 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:15353998|PMID:15537665|PMID:15660226|PMID:16199547|PMID:16281288|PMID:16679490|PMID:16963483|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18348277|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19375528|PMID:19683999|PMID:20146813|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21078986|PMID:21174530|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22607986|PMID:2289998|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25262649|PMID:25279224|PMID:25333064|PMID:25356970|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:25991456|PMID:26226137|PMID:26264712|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26633542|PMID:26763877|PMID:26969326|PMID:27018795|PMID:2706105|PMID:27068579|PMID:27349180|PMID:27460420|PMID:27583405|PMID:27610647|PMID:27743452|PMID:27792758|PMID:27884173|PMID:28383030|PMID:28483220|PMID:28492532|PMID:28501645|PMID:28847902|PMID:28912962|PMID:29148562|PMID:29343940|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30123251|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30774966|PMID:31054281|PMID:31152317|PMID:31231422|PMID:31445392|PMID:31541171|PMID:31546658|PMID:32467589|PMID:32747562|PMID:32991204|PMID:34906502|PMID:35020051|PMID:35186827|PMID:9536098 12201749 CDH23 cadherin related 23 gene DOID:0110838 Usher syndrome type 2A ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:12075507|PMID:12522556|PMID:15353998|PMID:21940737|PMID:24033266|PMID:25741868|PMID:2706105|PMID:27460420|PMID:28492532 12201749 CDH23 cadherin related 23 gene DOID:0110961 atypical Gaucher's disease due to saposin C deficiency ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency PMID:25741868|PMID:28492532 12201749 CDH23 cadherin related 23 gene DOID:0111330 combined saposin deficiency ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 12201749 CDH23 cadherin related 23 gene DOID:0112008 pituitary adenoma 5 ISO RGD:733851 D RGD:7240710 20190315 OMIM 12201749 CDH23 cadherin related 23 gene DOID:0112008 pituitary adenoma 5 ISO RGD:733851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:15353998|PMID:15537665|PMID:15660226|PMID:16281288|PMID:16679490|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19683999|PMID:20146813|PMID:20513143|PMID:20613545|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22899989|PMID:22995991|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25279224|PMID:25333064|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:26226137|PMID:26264712|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26763877|PMID:26969326|PMID:27068579|PMID:27349180|PMID:27583405|PMID:27743452|PMID:27792758|PMID:27884173|PMID:28383030|PMID:28413019|PMID:28483220|PMID:28492532|PMID:28847902|PMID:29148562|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30718709|PMID:31054281|PMID:31152317|PMID:31541171|PMID:32467589|PMID:32991204|PMID:35020051|PMID:35186827|PMID:9536098 12201749 CDH23 cadherin related 23 gene DOID:10003 sensorineural hearing loss ISO RGD:733851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:22899989|PMID:25741868|PMID:25963016|PMID:26763877|PMID:28492532|PMID:30303587 12201749 CDH23 cadherin related 23 gene DOID:10316 pneumoconiosis ISO RGD:733851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 12201749 CDH23 cadherin related 23 gene DOID:10581 metachromatic leukodystrophy ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 12201749 CDH23 cadherin related 23 gene DOID:10584 retinitis pigmentosa ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18429043|PMID:21228398|PMID:21569298|PMID:22135276|PMID:22995991|PMID:24033266|PMID:24416283|PMID:25474345|PMID:25741868|PMID:28492532|PMID:30029624|PMID:30718709 12201749 CDH23 cadherin related 23 gene DOID:10587 Krabbe disease ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 12201749 CDH23 cadherin related 23 gene DOID:3633 beta-mannosidosis ISO RGD:733851 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:25741868|PMID:28492532|PMID:30311386 12201749 CDH23 cadherin related 23 gene DOID:5679 retinal disease ISO RGD:733852 D RGD:9068941 20200609 RGD PMID:14609561|REF_RGD_ID:8662280 12201749 CDH23 cadherin related 23 gene DOID:630 genetic disease ISO RGD:733851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11090341|PMID:11138009|PMID:12075507|PMID:16281288|PMID:17850630|PMID:18273900|PMID:18368581|PMID:18484607|PMID:20613545|PMID:21940737|PMID:24033266|PMID:24416283|PMID:25356970|PMID:25468891|PMID:25472526|PMID:25741868|PMID:26399936|PMID:26467025|PMID:26969326|PMID:27349180|PMID:27743452|PMID:28492532|PMID:28501645|PMID:29986705|PMID:30311386|PMID:32747562|PMID:32991204|PMID:34837038|PMID:35186827 12201749 CDH23 cadherin related 23 gene DOID:8501 fundus dystrophy ISO RGD:733851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11138009|PMID:12075507|PMID:16199547|PMID:18273900|PMID:18429043|PMID:18484607|PMID:20613545|PMID:21940737|PMID:24033266|PMID:25211151|PMID:25468891|PMID:25472526|PMID:25741868|PMID:26399936|PMID:26467025|PMID:26969326|PMID:27208204|PMID:28492532|PMID:30311386|PMID:30718709|PMID:31546658|PMID:32141364|PMID:32991204|PMID:35020051|PMID:35186827 12201749 CDH23 cadherin related 23 gene DOID:9000307 Presbycusis ISO RGD:733852 D RGD:9068941 20200609 RGD PMID:12910270|REF_RGD_ID:737781 12201749 CDH23 cadherin related 23 gene DOID:9000307 Presbycusis no_association ISO RGD:733851 D RGD:9068941 20200609 RGD DNA:SNP:intron:g.72996763C>T (rs7087735) (human) PMID:22581638|REF_RGD_ID:8662287 12201749 CDH23 cadherin related 23 gene DOID:9001061 Atypical Krabbe Disease due to Saposin A Deficiency ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency PMID:25741868|PMID:28492532 12201749 CDH23 cadherin related 23 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:733851 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1227049, rs3802711 (human) PMID:16598924|REF_RGD_ID:8662283 12201749 CDH23 cadherin related 23 gene DOID:9002910 Hearing Loss, Noise-Induced no_association ISO RGD:733851 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1227049, rs1227051 (human) PMID:16598924|REF_RGD_ID:8662283 12201749 CDH23 cadherin related 23 gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:733851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:15353998|PMID:15537665|PMID:15660226|PMID:16281288|PMID:16679490|PMID:16963483|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18348277|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19375528|PMID:19683999|PMID:20146813|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21078986|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21738395|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22607986|PMID:2289998|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25262649|PMID:25279224|PMID:25356970|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:25991456|PMID:26226137|PMID:26264712|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26763877|PMID:26969326|PMID:2706105|PMID:27068579|PMID:27349180|PMID:27460420|PMID:27583405|PMID:27743452|PMID:27792758|PMID:27884173|PMID:28483220|PMID:28492532|PMID:28847902|PMID:28912962|PMID:29148562|PMID:29343940|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30718709|PMID:30733538|PMID:31054281|PMID:31152317|PMID:31445392|PMID:32467589|PMID:32645618|PMID:32991204|PMID:34837038|PMID:35020051|PMID:35186827|PMID:9536098 12201749 CDH23 cadherin related 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:12075507|PMID:16963483|PMID:19683999|PMID:21174530|PMID:24033266|PMID:25741868|PMID:26969326|PMID:27018795|PMID:28492532 12201749 CDH23 cadherin related 23 gene DOID:9004538 Hearing Loss ISO RGD:733851 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hereditary hearing loss and deafness | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:18429043|PMID:21117948|PMID:24033266|PMID:25404053|PMID:25741868|PMID:27068579|PMID:28492532|PMID:30245029|PMID:30311386 12201749 CDH23 cadherin related 23 gene DOID:9004538 Hearing Loss ISO RGD:733851 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:18429043|PMID:21117948|PMID:24033266|PMID:25404053|PMID:25741868|PMID:26467025|PMID:27068579|PMID:28492532|PMID:30245029|PMID:30311386 12201749 CDH23 cadherin related 23 gene DOID:9004615 Metachromatic Leukodystrophy due to Saposin B Deficiency ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency PMID:25741868|PMID:28492532 12201749 CDH23 cadherin related 23 gene DOID:9006896 Usher Syndrome, Type ID/F ISO RGD:733851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC PMID:11138009|PMID:12075507|PMID:15537665|PMID:15660226|PMID:21940737|PMID:24033266|PMID:25741868|PMID:28492532 12201749 CDH23 cadherin related 23 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:733851 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment PMID:18429043|PMID:21228398|PMID:21569298|PMID:22135276|PMID:22995991|PMID:24033266|PMID:25474345|PMID:25741868|PMID:28492532|PMID:30029624|PMID:30718709 12201749 CDH23 cadherin related 23 gene DOID:9008681 Deafness ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 12201749 CDH23 cadherin related 23 gene DOID:9849 Meniere's disease ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:18429043|PMID:24033266|PMID:25741868|PMID:28492532 12201823 SIDT1 SID1 transmembrane family member 1 gene DOID:2843 long QT syndrome ISO RGD:1346888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12201823 SIDT1 SID1 transmembrane family member 1 gene DOID:630 genetic disease ISO RGD:1346888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201823 SIDT1 SID1 transmembrane family member 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1346888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12201872 OR4C15 olfactory receptor family 4 subfamily C member 15 gene DOID:1059 intellectual disability ISO RGD:1352775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12201872 OR4C15 olfactory receptor family 4 subfamily C member 15 gene DOID:630 genetic disease ISO RGD:1352775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201875 PSKH1 protein serine kinase H1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1312210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12201875 PSKH1 protein serine kinase H1 gene DOID:630 genetic disease ISO RGD:1312210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201896 MYO1C myosin IC gene DOID:0060224 atrial fibrillation ISO RGD:737188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12201896 MYO1C myosin IC gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:737188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 12201896 MYO1C myosin IC gene DOID:630 genetic disease ISO RGD:737188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12201896 MYO1C myosin IC gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12202012 ARHGAP24 Rho GTPase activating protein 24 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1315415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 12202012 ARHGAP24 Rho GTPase activating protein 24 gene DOID:1184 nephrotic syndrome ISO RGD:1315415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 12202012 ARHGAP24 Rho GTPase activating protein 24 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1315415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 12202012 ARHGAP24 Rho GTPase activating protein 24 gene DOID:630 genetic disease ISO RGD:1315415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12202042 DDX55 DEAD-box helicase 55 gene DOID:630 genetic disease ISO RGD:1323439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12202061 USP18 ubiquitin specific peptidase 18 gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1353279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12202061 USP18 ubiquitin specific peptidase 18 gene DOID:0111996 immunodeficiency 51 ISO RGD:1353279 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12202061 USP18 ubiquitin specific peptidase 18 gene DOID:11198 DiGeorge syndrome ISO RGD:1353279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 12202061 USP18 ubiquitin specific peptidase 18 gene DOID:1967 leiomyosarcoma ISO RGD:1353279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26555296 12202061 USP18 ubiquitin specific peptidase 18 gene DOID:5419 schizophrenia ISO RGD:1353279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12202061 USP18 ubiquitin specific peptidase 18 gene DOID:630 genetic disease ISO RGD:1353279 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12202061 USP18 ubiquitin specific peptidase 18 gene DOID:9001536 Pseudo-TORCH Syndrome 2 ISO RGD:1353279 D RGD:7240710 20190315 OMIM 12202061 USP18 ubiquitin specific peptidase 18 gene DOID:9001536 Pseudo-TORCH Syndrome 2 ISO RGD:1353279 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pseudo-TORCH syndrome 2 PMID:12833411|PMID:25741868|PMID:27325888|PMID:31940699 12202061 USP18 ubiquitin specific peptidase 18 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1353279 D RGD:9068941 20201106 RGD PMID:28036111|REF_RGD_ID:40400915 12202061 USP18 ubiquitin specific peptidase 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12202061 USP18 ubiquitin specific peptidase 18 gene DOID:9004610 Acute Lung Injury ISO RGD:1353279 D RGD:9068941 20220114 CTD CTD Direct Evidence: therapeutic PMID:33930521 12202061 USP18 ubiquitin specific peptidase 18 gene DOID:9005172 Lung Neoplasms ISO RGD:1353279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27980214 12202061 USP18 ubiquitin specific peptidase 18 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1353279 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12202088 DNAH9 dynein axonemal heavy chain 9 gene DOID:0111853 primary ciliary dyskinesia 40 ISO RGD:1313302 D RGD:7240710 20190315 OMIM 12202088 DNAH9 dynein axonemal heavy chain 9 gene DOID:0111853 primary ciliary dyskinesia 40 ISO RGD:1313302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 40 PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30471717|PMID:30471718|PMID:9536098 12202088 DNAH9 dynein axonemal heavy chain 9 gene DOID:10283 prostate cancer ISO RGD:1313302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12202088 DNAH9 dynein axonemal heavy chain 9 gene DOID:10908 hydrocephalus ISO RGD:1313302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:25741868|PMID:28492532|PMID:30471718 12202088 DNAH9 dynein axonemal heavy chain 9 gene DOID:5419 schizophrenia ISO RGD:1313302 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12202088 DNAH9 dynein axonemal heavy chain 9 gene DOID:630 genetic disease ISO RGD:1313302 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12202088 DNAH9 dynein axonemal heavy chain 9 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1313302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:25741868|PMID:28492532|PMID:30471718 12202088 DNAH9 dynein axonemal heavy chain 9 gene DOID:9008386 Hydrops Fetalis ISO RGD:1313302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868|PMID:28492532|PMID:30471718|PMID:33027564 12202088 DNAH9 dynein axonemal heavy chain 9 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532|PMID:30471718 12202161 CAPN15 calpain 15 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1315174 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12202161 CAPN15 calpain 15 gene DOID:12270 coloboma ISO RGD:1315174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:25741868 12202161 CAPN15 calpain 15 gene DOID:1826 epilepsy ISO RGD:1315174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 12202161 CAPN15 calpain 15 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1315174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12202161 CAPN15 calpain 15 gene DOID:630 genetic disease ISO RGD:1315174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12202161 CAPN15 calpain 15 gene DOID:9001664 OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME ISO RGD:1315174 D RGD:7240710 20210623 OMIM 12202161 CAPN15 calpain 15 gene DOID:9001664 OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME ISO RGD:1315174 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oculogastrointestinal-neurodevelopmental syndrome PMID:25741868|PMID:32885237|PMID:33410501 12202186 THTPA thiamine triphosphatase gene DOID:0060439 lysinuric protein intolerance ISO RGD:1344933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12202186 THTPA thiamine triphosphatase gene DOID:0081075 Marsili syndrome ISO RGD:1344933 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal dominant PMID:25741868|PMID:29253101 12202186 THTPA thiamine triphosphatase gene DOID:630 genetic disease ISO RGD:1344933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12202186 THTPA thiamine triphosphatase gene DOID:9000265 Specific Granule Deficiency ISO RGD:1344933 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12202186 THTPA thiamine triphosphatase gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1344933 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12202219 EQTN equatorin gene DOID:630 genetic disease ISO RGD:1342522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12202256 FLG filaggrin gene DOID:0070338 cerebellar hypoplasia ISO RGD:737239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868 12202256 FLG filaggrin gene DOID:0110098 atopic dermatitis 2 ISO RGD:737239 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dermatitis, atopic, 2 | ClinVar Annotator: match by term: Dermatitis, atopic, 2, susceptibility to PMID:16444271|PMID:16550169|PMID:16815158|PMID:17030239|PMID:17291859|PMID:17417636|PMID:17657246|PMID:18325573|PMID:18396323|PMID:19183181|PMID:19501237|PMID:19538357|PMID:19733298|PMID:19785597|PMID:19839980|PMID:19874431|PMID:20426775|PMID:20573035|PMID:20674819|PMID:21039602|PMID:21365004|PMID:21377035|PMID:21514438|PMID:21564328|PMID:21777221|PMID:22403702|PMID:22407025|PMID:22951058|PMID:22995991|PMID:23039796|PMID:23166590|PMID:23301728|PMID:23343419|PMID:23352160|PMID:23947670|PMID:23993222|PMID:24033266|PMID:24077912|PMID:24251354|PMID:24565632|PMID:24608987|PMID:24920311|PMID:25314673|PMID:25333069|PMID:25741868|PMID:26451970|PMID:27279822|PMID:27363669|PMID:27462351|PMID:28143684|PMID:28164424|PMID:28213896|PMID:28730607|PMID:29054605|PMID:29068602|PMID:29428354|PMID:29431110|PMID:29444371|PMID:29791750|PMID:30665703|PMID:31365035|PMID:31637781|PMID:32066784 12202256 FLG filaggrin gene DOID:0110098 atopic dermatitis 2 susceptibility ISO RGD:737239 D RGD:7240710 20230510 OMIM 12202256 FLG filaggrin gene DOID:0111940 immunodeficiency 42 ISO RGD:737239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12202256 FLG filaggrin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:737239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12202256 FLG filaggrin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:737239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12202256 FLG filaggrin gene DOID:11372 megacolon ISO RGD:737239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12202256 FLG filaggrin gene DOID:1540 parathyroid carcinoma ISO RGD:737239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12202256 FLG filaggrin gene DOID:1697 ichthyosis ISO RGD:737239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ichthyosis PMID:25741868 12202256 FLG filaggrin gene DOID:1702 ichthyosis vulgaris ISO RGD:737239 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant ichthyosis vulgaris | ClinVar Annotator: match by term: Dominant ichthyosis vulgaris | ClinVar Annotator: match by term: Ichthyosis vulgaris PMID:16444271|PMID:16550169|PMID:16815158|PMID:17030239|PMID:17291859|PMID:17417636|PMID:17657246|PMID:18200065|PMID:18239616|PMID:18325573|PMID:18396323|PMID:18662816|PMID:19183181|PMID:19501237|PMID:19538357|PMID:19663875|PMID:19733298|PMID:19785597|PMID:19839980|PMID:19874431|PMID:20426775|PMID:20573035|PMID:20674819|PMID:21039602|PMID:21365004|PMID:21377035|PMID:21428977|PMID:21514438|PMID:21564328|PMID:21777221|PMID:21923666|PMID:22220561|PMID:22403702|PMID:22407025|PMID:22951058|PMID:22995991|PMID:23039796|PMID:23166590|PMID:23301728|PMID:23343419|PMID:23352160|PMID:23947670|PMID:23993222|PMID:24033266|PMID:24077912|PMID:24251354|PMID:24565632|PMID:24608987|PMID:24629053|PMID:24920311|PMID:25314673|PMID:25333069|PMID:25741868|PMID:25997159|PMID:26451970|PMID:27279822|PMID:27363669|PMID:27462351|PMID:27519469|PMID:28120571|PMID:28143684|PMID:28164424|PMID:28213896|PMID:28407221|PMID:28492532|PMID:28730607|PMID:29054605|PMID:29056476|PMID:29068602|PMID:29130490|PMID:29428354|PMID:29431110|PMID:29444371|PMID:29791750|PMID:30665703|PMID:30681730|PMID:31365035|PMID:31637781|PMID:32066784|PMID:33116287|PMID:34008892 12202256 FLG filaggrin gene DOID:1702 ichthyosis vulgaris susceptibility ISO RGD:737239 D RGD:7240710 20230510 OMIM 12202256 FLG filaggrin gene DOID:2723 dermatitis ISO RGD:737239 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31330126 12202256 FLG filaggrin gene DOID:2773 contact dermatitis ISO RGD:737239 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12202256 FLG filaggrin gene DOID:3310 atopic dermatitis ISO RGD:737239 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Atopic eczema PMID:16444271|PMID:16550169|PMID:16815158|PMID:17030239|PMID:18325573|PMID:19501237|PMID:19839980|PMID:19874431|PMID:21514438|PMID:22403702|PMID:23947670|PMID:24033266|PMID:24920311|PMID:25741868|PMID:27279822|PMID:27363669|PMID:31637781 12202256 FLG filaggrin gene DOID:5812 MHC class II deficiency ISO RGD:737239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12202256 FLG filaggrin gene DOID:630 genetic disease ISO RGD:737239 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:29056476 12202256 FLG filaggrin gene DOID:9004430 Hyperhidrosis Palmaris Et Plantaris ISO RGD:737239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPRPP PMID:25741868 12202256 FLG filaggrin gene DOID:9007356 Eczema ISO RGD:737239 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Eczema PMID:16444271|PMID:16550169|PMID:16815158|PMID:17030239|PMID:18325573|PMID:19501237|PMID:19839980|PMID:19874431|PMID:21514438|PMID:22403702|PMID:23947670|PMID:24033266|PMID:24920311|PMID:25741868|PMID:27279822|PMID:27363669|PMID:31637781 12202256 FLG filaggrin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12202273 TYRP1 tyrosinase related protein 1 gene DOID:0050632 oculocutaneous albinism ISO RGD:1351708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism 12202273 TYRP1 tyrosinase related protein 1 gene DOID:0050633 ocular albinism ISO RGD:1351708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ocular albinism PMID:25741868|PMID:28492532 12202273 TYRP1 tyrosinase related protein 1 gene DOID:0070096 oculocutaneous albinism type II ISO RGD:1351708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF PMID:18680187|PMID:28492532|PMID:8651291|PMID:9345097 12202273 TYRP1 tyrosinase related protein 1 gene DOID:0070097 oculocutaneous albinism type III ISO RGD:1351708 D RGD:7240710 20180130 OMIM 12202273 TYRP1 tyrosinase related protein 1 gene DOID:0070097 oculocutaneous albinism type III ISO RGD:1351708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism type 3 PMID:15996218|PMID:16199547|PMID:16704458|PMID:17576681|PMID:18326704|PMID:18680187|PMID:18821858|PMID:19533799|PMID:21739261|PMID:23504663|PMID:23862152|PMID:24033266|PMID:25741868|PMID:27734839|PMID:28041643|PMID:28266639|PMID:28492532|PMID:28976636|PMID:29345414|PMID:31233279|PMID:31719542|PMID:8651291|PMID:9345097|PMID:9536098 12202273 TYRP1 tyrosinase related protein 1 gene DOID:1909 melanoma ISO RGD:1351708 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26640592 12202273 TYRP1 tyrosinase related protein 1 gene DOID:299 adenocarcinoma ISO RGD:1351708 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 12202273 TYRP1 tyrosinase related protein 1 gene DOID:630 genetic disease ISO RGD:1351708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12202273 TYRP1 tyrosinase related protein 1 gene DOID:9001386 Albinism ISO RGD:1351708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Albinism PMID:16199547|PMID:25741868|PMID:28041643|PMID:28492532|PMID:8651291|PMID:9345097 12202273 TYRP1 tyrosinase related protein 1 gene DOID:9003119 Nonsyndromic Oculocutaneous Albinism ISO RGD:1351708 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism PMID:16704458|PMID:21739261|PMID:25741868|PMID:28266639|PMID:28492532 12202273 TYRP1 tyrosinase related protein 1 gene DOID:9003127 Skin/Hair/Eye Pigmentation, Variation In, 11 ISO RGD:1351708 D RGD:7240710 20180130 OMIM 12202273 TYRP1 tyrosinase related protein 1 gene DOID:9003127 Skin/Hair/Eye Pigmentation, Variation In, 11 ISO RGD:1351708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 11 PMID:22556244|PMID:24449225|PMID:28492532 12202273 TYRP1 tyrosinase related protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1351708 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 12202290 GUK1 guanylate kinase 1 gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1320084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:28492532 12202290 GUK1 guanylate kinase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1320084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12202290 GUK1 guanylate kinase 1 gene DOID:630 genetic disease ISO RGD:1320084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12202290 GUK1 guanylate kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309638 D RGD:9068941 20200609 RGD protein:decreased expression:retina (rat) PMID:17465459|REF_RGD_ID:5147874 12202290 GUK1 guanylate kinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12202306 NDUFS5 NADH:ubiquinone oxidoreductase subunit S5 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12202306 NDUFS5 NADH:ubiquinone oxidoreductase subunit S5 gene DOID:630 genetic disease ISO RGD:1322348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12202313 CEP70 centrosomal protein 70 gene DOID:0050567 orofacial cleft ISO RGD:1601960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Median cleft lip and palate PMID:19254375|PMID:25741868|PMID:31680349 12202313 CEP70 centrosomal protein 70 gene DOID:630 genetic disease ISO RGD:1601960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12202346 CDK5RAP1 CDK5 regulatory subunit associated protein 1 gene DOID:630 genetic disease ISO RGD:1602114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12202374 HAUS2 HAUS augmin like complex subunit 2 gene DOID:2717 Bloom syndrome ISO RGD:1321425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12202374 HAUS2 HAUS augmin like complex subunit 2 gene DOID:630 genetic disease ISO RGD:1321425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12202374 HAUS2 HAUS augmin like complex subunit 2 gene DOID:9256 colorectal cancer ISO RGD:1321425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12202387 TMEM62 transmembrane protein 62 gene DOID:2717 Bloom syndrome ISO RGD:1605041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12202387 TMEM62 transmembrane protein 62 gene DOID:630 genetic disease ISO RGD:1605041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12202387 TMEM62 transmembrane protein 62 gene DOID:9256 colorectal cancer ISO RGD:1605041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12202415 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:0050852 limb ischemia ISO RGD:734164 D RGD:9068941 20200609 RGD PMID:26315408|REF_RGD_ID:14367880 12202415 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:0060326 myelomeningocele ISO RGD:734163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16237707 12202415 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:0080216 duodenal atresia ISO RGD:734164 D RGD:9068941 20200609 RGD mRNA:decreased expression:duodenum PMID:21492869|REF_RGD_ID:14367883 12202415 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:0080216 duodenal atresia severity ISO RGD:734164 D RGD:9068941 20200609 RGD PMID:23021139|REF_RGD_ID:14367881 12202415 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:0080855 Parkinsonism ISO RGD:734163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25045800 12202415 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:11198 DiGeorge syndrome ISO RGD:734164 D RGD:9068941 20200609 RGD PMID:12563036|REF_RGD_ID:734550 12202415 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:11198 DiGeorge syndrome ISO RGD:734164 D RGD:9068941 20220825 MouseDO OMIM:188400 12202415 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:2717 Bloom syndrome ISO RGD:734163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12202415 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:630 genetic disease ISO RGD:734163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12202415 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:8398 osteoarthritis ISO RGD:734163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24728293 12202415 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:9001909 Diaphragmatic Hernia 4 ISO RGD:734163 D RGD:7240710 20220921 OMIM 12202415 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:9001909 Diaphragmatic Hernia 4 ISO RGD:734163 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Diaphragmatic hernia 4, with cardiovascular defects PMID:33565183 12202415 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:734163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16166285 12202415 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:9002819 Coronary Occlusion disease_progression ISO RGD:734163 D RGD:9068941 20200609 RGD PMID:26315408|REF_RGD_ID:14367880 12202415 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:9002869 Schistosomiasis Mansoni ISO RGD:734164 D RGD:9068941 20200609 RGD mRNA:increased expression:macrophage PMID:22927819|REF_RGD_ID:14367882 12202415 ALDH1A2 aldehyde dehydrogenase 1 family member A2 gene DOID:9256 colorectal cancer ISO RGD:734163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12202432 NCAPG non-SMC condensin I complex subunit G gene DOID:0080600 COVID-19 ISO RGD:1605960 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12202432 NCAPG non-SMC condensin I complex subunit G gene DOID:3910 lung adenocarcinoma ISO RGD:1605960 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:34419073 12202432 NCAPG non-SMC condensin I complex subunit G gene DOID:630 genetic disease ISO RGD:1605960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12202432 NCAPG non-SMC condensin I complex subunit G gene DOID:684 hepatocellular carcinoma ISO RGD:1605960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12202432 NCAPG non-SMC condensin I complex subunit G gene DOID:9000918 Disease Progression ISO RGD:1605960 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34480403 12202432 NCAPG non-SMC condensin I complex subunit G gene DOID:9007715 Endometrial Neoplasms ISO RGD:1605960 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34480403 12202457 C5H1orf174 chromosome 5 C1orf174 homolog gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12202457 C5H1orf174 chromosome 5 C1orf174 homolog gene DOID:11372 megacolon ISO RGD:1603248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12202457 C5H1orf174 chromosome 5 C1orf174 homolog gene DOID:630 genetic disease ISO RGD:1603248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12202457 C5H1orf174 chromosome 5 C1orf174 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12202465 LOC479822 acyl-coenzyme A synthetase ACSM2A, mitochondrial gene DOID:630 genetic disease ISO RGD:1606171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12202490 SLC39A6 solute carrier family 39 member 6 gene DOID:1059 intellectual disability ISO RGD:1312236 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12202490 SLC39A6 solute carrier family 39 member 6 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1312236 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23644492 12202490 SLC39A6 solute carrier family 39 member 6 gene DOID:630 genetic disease ISO RGD:1312236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12202490 SLC39A6 solute carrier family 39 member 6 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312236 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12839489 12202490 SLC39A6 solute carrier family 39 member 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312236 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12202490 SLC39A6 solute carrier family 39 member 6 gene DOID:9008939 Breast Neoplasms ISO RGD:1312236 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12839489 12202504 PARVG parvin gamma gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1322037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12202504 PARVG parvin gamma gene DOID:1059 intellectual disability ISO RGD:1322037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12202504 PARVG parvin gamma gene DOID:630 genetic disease ISO RGD:1322037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12202520 RNF32 ring finger protein 32 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1317975 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:22354285|PMID:22683912|PMID:23370340|PMID:24095820|PMID:28284480|PMID:28492532|PMID:28588853|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32677110 12202520 RNF32 ring finger protein 32 gene DOID:12849 autistic disorder ISO RGD:1317975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12202520 RNF32 ring finger protein 32 gene DOID:630 genetic disease ISO RGD:1317975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12202520 RNF32 ring finger protein 32 gene DOID:9003769 Patterson Stevenson Syndrome ISO RGD:1317975 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome PMID:18178630 12202543 BTBD17 BTB domain containing 17 gene DOID:630 genetic disease ISO RGD:2301265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12202554 MTRFR mitochondrial translation release factor in rescue gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1605601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 12202554 MTRFR mitochondrial translation release factor in rescue gene DOID:0080068 Charcot-Marie-Tooth disease type 6 ISO RGD:1605601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY AND OPTIC ATROPHY PMID:25741868|PMID:31673878 12202554 MTRFR mitochondrial translation release factor in rescue gene DOID:0110807 hereditary spastic paraplegia 55 ISO RGD:1605601 D RGD:7240710 20180130 OMIM 12202554 MTRFR mitochondrial translation release factor in rescue gene DOID:0110807 hereditary spastic paraplegia 55 ISO RGD:1605601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 55 | ClinVar Annotator: match by term: Spastic paraplegia 55, autosomal recessive PMID:20598281|PMID:23188110|PMID:24080142|PMID:24198383|PMID:24284555|PMID:24424123|PMID:25058219|PMID:25326635|PMID:25741868|PMID:26380172|PMID:26539891|PMID:28091420|PMID:28251916|PMID:28492532|PMID:30369941|PMID:31753091|PMID:32581362|PMID:3479531 12202554 MTRFR mitochondrial translation release factor in rescue gene DOID:0111487 combined oxidative phosphorylation deficiency 7 ISO RGD:1605601 D RGD:7240710 20180130 OMIM 12202554 MTRFR mitochondrial translation release factor in rescue gene DOID:0111487 combined oxidative phosphorylation deficiency 7 ISO RGD:1605601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 PMID:20598281|PMID:23188110|PMID:24033266|PMID:24284555|PMID:24424123|PMID:25058219|PMID:25326635|PMID:25741868|PMID:26380172|PMID:26539891|PMID:27858754|PMID:28091420|PMID:28251916|PMID:28492532|PMID:30369941|PMID:31753091|PMID:32478789|PMID:32581362|PMID:34440436|PMID:34732400 12202554 MTRFR mitochondrial translation release factor in rescue gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 12202554 MTRFR mitochondrial translation release factor in rescue gene DOID:607 paraplegia ISO RGD:1605601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:20598281|PMID:23188110|PMID:24033266|PMID:24284555|PMID:24424123|PMID:25058219|PMID:25741868|PMID:26380172|PMID:27858754|PMID:28091420|PMID:28251916|PMID:28492532|PMID:30369941|PMID:31753091|PMID:34732400 12202554 MTRFR mitochondrial translation release factor in rescue gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1605601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20598281 12202554 MTRFR mitochondrial translation release factor in rescue gene DOID:9001793 Generalized Epilepsy ISO RGD:1605601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:20598281|PMID:25326635|PMID:25741868|PMID:26539891|PMID:32581362 12202554 MTRFR mitochondrial translation release factor in rescue gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12202564 RBM12B RNA binding motif protein 12B gene DOID:2661 myoepithelioma ISO RGD:1602033 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12202564 RBM12B RNA binding motif protein 12B gene DOID:630 genetic disease ISO RGD:1602033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12202577 SENP8 SUMO peptidase family member, NEDD8 specific gene DOID:2717 Bloom syndrome ISO RGD:1320576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12202577 SENP8 SUMO peptidase family member, NEDD8 specific gene DOID:3320 Tay-Sachs disease ISO RGD:1320576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 12202577 SENP8 SUMO peptidase family member, NEDD8 specific gene DOID:630 genetic disease ISO RGD:1320576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12202577 SENP8 SUMO peptidase family member, NEDD8 specific gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12202577 SENP8 SUMO peptidase family member, NEDD8 specific gene DOID:9256 colorectal cancer ISO RGD:1320576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12202583 NLRP1 NLR family pyrin domain containing 1 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1322162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 12202583 NLRP1 NLR family pyrin domain containing 1 gene DOID:10283 prostate cancer ISO RGD:1322162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 12202583 NLRP1 NLR family pyrin domain containing 1 gene DOID:12306 vitiligo ISO RGD:1322162 D RGD:7240710 20230517 OMIM 12202583 NLRP1 NLR family pyrin domain containing 1 gene DOID:12306 vitiligo ISO RGD:1322162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Vitiligo-associated multiple autoimmune disease susceptibility 1 PMID:17377159|PMID:25741868|PMID:27662089|PMID:28492532 12202583 NLRP1 NLR family pyrin domain containing 1 gene DOID:13628 favism ISO RGD:1322162 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:25741868 12202583 NLRP1 NLR family pyrin domain containing 1 gene DOID:630 genetic disease ISO RGD:1322162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12202583 NLRP1 NLR family pyrin domain containing 1 gene DOID:9002780 Recurrent Respiratory Papillomatosis ISO RGD:1322162 D RGD:7240710 20230517 OMIM 12202583 NLRP1 NLR family pyrin domain containing 1 gene DOID:9002780 Recurrent Respiratory Papillomatosis ISO RGD:1322162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Respiratory papillomatosis, juvenile recurrent, congenital PMID:17377159|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31484767 12202583 NLRP1 NLR family pyrin domain containing 1 gene DOID:9007910 Autoinflammation with Arthritis and Dyskeratosis ISO RGD:1322162 D RGD:7240710 20230517 OMIM 12202583 NLRP1 NLR family pyrin domain containing 1 gene DOID:9007910 Autoinflammation with Arthritis and Dyskeratosis ISO RGD:1322162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammation with arthritis and dyskeratosis PMID:16918630|PMID:17377159|PMID:24033266|PMID:25741868|PMID:27965258|PMID:28492532|PMID:30291141 12202583 NLRP1 NLR family pyrin domain containing 1 gene DOID:9007939 Multiple Self-healing Palmoplantar Carcinoma ISO RGD:1322162 D RGD:7240710 20230517 OMIM 12202583 NLRP1 NLR family pyrin domain containing 1 gene DOID:9007939 Multiple Self-healing Palmoplantar Carcinoma ISO RGD:1322162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Palmoplantar carcinoma, multiple self-healing PMID:17377159|PMID:23349227|PMID:24033266|PMID:25050600|PMID:25741868|PMID:27662089|PMID:28492532 12202613 CRISPLD2 cysteine rich secretory protein LCCL domain containing 2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1605611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12202613 CRISPLD2 cysteine rich secretory protein LCCL domain containing 2 gene DOID:3602 toxic encephalopathy ISO RGD:1605611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12202613 CRISPLD2 cysteine rich secretory protein LCCL domain containing 2 gene DOID:409 liver disease ISO RGD:1605611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12202613 CRISPLD2 cysteine rich secretory protein LCCL domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1605611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12202613 CRISPLD2 cysteine rich secretory protein LCCL domain containing 2 gene DOID:630 genetic disease ISO RGD:1605611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12202613 CRISPLD2 cysteine rich secretory protein LCCL domain containing 2 gene DOID:850 lung disease ISO RGD:1605611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21069352 12202632 ZNF646 zinc finger protein 646 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1351485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12202632 ZNF646 zinc finger protein 646 gene DOID:630 genetic disease ISO RGD:1351485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12202643 ZFP36L1 ZFP36 ring finger protein like 1 gene DOID:0080600 COVID-19 ISO RGD:732154 D RGD:9068941 20200709 RGD mRNA:decreased expression:memory B cells (human) PMID:32377375|REF_RGD_ID:32716422 12202643 ZFP36L1 ZFP36 ring finger protein like 1 gene DOID:630 genetic disease ISO RGD:732154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12202654 GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 gene DOID:10652 Alzheimer's disease ISO RGD:731814 D RGD:9068941 20200609 RGD PMID:15571982|REF_RGD_ID:10401946 12202654 GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 gene DOID:630 genetic disease ISO RGD:731814 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12202654 GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease ISO RGD:731814 D RGD:9068941 20200609 RGD PMID:15571982|REF_RGD_ID:10401946 12202680 CRELD1 cysteine rich with EGF like domains 1 gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1319745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 12202680 CRELD1 cysteine rich with EGF like domains 1 gene DOID:1681 heart septal defect susceptibility ISO RGD:1319745 D RGD:9068941 20200609 RGD Atrioventricular septal defect;DNA:missense mutations PMID:12632326|REF_RGD_ID:1600967 12202680 CRELD1 cysteine rich with EGF like domains 1 gene DOID:2843 long QT syndrome ISO RGD:1319745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12202680 CRELD1 cysteine rich with EGF like domains 1 gene DOID:630 genetic disease ISO RGD:1319745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12202680 CRELD1 cysteine rich with EGF like domains 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1319745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:25741868|PMID:28492532 12202680 CRELD1 cysteine rich with EGF like domains 1 gene DOID:9001355 Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome ISO RGD:1319745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, partial, with heterotaxy syndrome PMID:12632326|PMID:24697899|PMID:28492532 12202680 CRELD1 cysteine rich with EGF like domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12202680 CRELD1 cysteine rich with EGF like domains 1 gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1319745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:25741868|PMID:28492532 12202680 CRELD1 cysteine rich with EGF like domains 1 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1319745 D RGD:7240710 20230517 OMIM 12202680 CRELD1 cysteine rich with EGF like domains 1 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1319745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 | ClinVar Annotator: match by term: CRELD1-related condition PMID:11376440|PMID:12632326|PMID:15857420|PMID:17036335|PMID:21080147|PMID:23040494|PMID:24697899|PMID:24927998|PMID:25516202|PMID:25741868|PMID:28166811|PMID:28492532 12202695 CENPT centromere protein T gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12202695 CENPT centromere protein T gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1604795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:25741868|PMID:28449119 12202695 CENPT centromere protein T gene DOID:630 genetic disease ISO RGD:1604795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12202695 CENPT centromere protein T gene DOID:655 inherited metabolic disorder ISO RGD:1604795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:25741868|PMID:28449119 12202695 CENPT centromere protein T gene DOID:9004567 Short Stature and Microcephaly with Genital Anomalies ISO RGD:1604795 D RGD:7240710 20200101 OMIM 12202695 CENPT centromere protein T gene DOID:9004567 Short Stature and Microcephaly with Genital Anomalies ISO RGD:1604795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature and microcephaly with genital anomalies PMID:25741868|PMID:29228025 12202726 ABLIM3 actin binding LIM protein family member 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1354406 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12202726 ABLIM3 actin binding LIM protein family member 3 gene DOID:630 genetic disease ISO RGD:1354406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12202726 ABLIM3 actin binding LIM protein family member 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12202726 ABLIM3 actin binding LIM protein family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12202726 ABLIM3 actin binding LIM protein family member 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354406 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12202762 CEACAM1 CEA cell adhesion molecule 1 gene DOID:299 adenocarcinoma ISO RGD:10241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 12202762 CEACAM1 CEA cell adhesion molecule 1 gene DOID:5419 schizophrenia ISO RGD:10241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12202762 CEACAM1 CEA cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:10241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12202762 CEACAM1 CEA cell adhesion molecule 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:10241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12202762 CEACAM1 CEA cell adhesion molecule 1 gene DOID:9005172 Lung Neoplasms ISO RGD:10241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 12202783 SLAIN2 SLAIN motif family member 2 gene DOID:630 genetic disease ISO RGD:1602874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12202950 FBXO7 F-box protein 7 gene DOID:0060372 Parkinson's disease 15 ISO RGD:1313800 D RGD:7240710 20180130 OMIM 12202950 FBXO7 F-box protein 7 gene DOID:0060372 Parkinson's disease 15 ISO RGD:1313800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinsonian-pyramidal syndrome PMID:17576681|PMID:18513678|PMID:19038853|PMID:20603184|PMID:21347293|PMID:23352116|PMID:23933751|PMID:24112787|PMID:25029497|PMID:25085748|PMID:25169713|PMID:25174650|PMID:25741868|PMID:26310625|PMID:26882974|PMID:27294386|PMID:27503909|PMID:28492532|PMID:30502028|PMID:9536098 12202950 FBXO7 F-box protein 7 gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1313800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 12202950 FBXO7 F-box protein 7 gene DOID:14330 Parkinson's disease ISO RGD:1313800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Recessive 12202950 FBXO7 F-box protein 7 gene DOID:630 genetic disease ISO RGD:1313800 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12202950 FBXO7 F-box protein 7 gene DOID:9001750 Glucose-Galactose Malabsorption ISO RGD:1313800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption PMID:28492532 12202968 SPMIP7 sperm microtubule inner protein 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2902413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12202980 NTF3 neurotrophin 3 gene DOID:0050989 episodic ataxia type 1 ISO RGD:732368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 12202980 NTF3 neurotrophin 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:732368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12202980 NTF3 neurotrophin 3 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:732369 D RGD:9068941 20220825 MouseDO OMIM:108800 12202980 NTF3 neurotrophin 3 gene DOID:10487 Hirschsprung's disease ISO RGD:732368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 12202980 NTF3 neurotrophin 3 gene DOID:10652 Alzheimer's disease ISO RGD:732368 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G63E (human) PMID:9502217|REF_RGD_ID:1358754 12202980 NTF3 neurotrophin 3 gene DOID:10908 hydrocephalus ISO RGD:732368 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:11580868|REF_RGD_ID:1358755 12202980 NTF3 neurotrophin 3 gene DOID:12849 autistic disorder ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16289943 12202980 NTF3 neurotrophin 3 gene DOID:13406 pulmonary sarcoidosis ISO RGD:732368 D RGD:9068941 20200609 RGD PMID:16315781|REF_RGD_ID:4891110 12202980 NTF3 neurotrophin 3 gene DOID:13406 pulmonary sarcoidosis disease_progression ISO RGD:732368 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:21059230|REF_RGD_ID:5144061 12202980 NTF3 neurotrophin 3 gene DOID:14250 Down syndrome ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16289943 12202980 NTF3 neurotrophin 3 gene DOID:1824 status epilepticus ISO RGD:619728 D RGD:9068941 20210205 RGD RNA:decreased expression: hippocampus PMID:22019057|REF_RGD_ID:41404707 12202980 NTF3 neurotrophin 3 gene DOID:1824 status epilepticus ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635431 12202980 NTF3 neurotrophin 3 gene DOID:2841 asthma ISO RGD:732368 D RGD:9068941 20200609 RGD PMID:11737043|REF_RGD_ID:4891123 12202980 NTF3 neurotrophin 3 gene DOID:2841 asthma ISO RGD:732369 D RGD:9068941 20200609 RGD protein:increased expression:lung, serum PMID:17497413|REF_RGD_ID:4891068 12202980 NTF3 neurotrophin 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732368 D RGD:9068941 20200609 RGD mRNA:decreased expression:bronchus PMID:15843147|REF_RGD_ID:4891120 12202980 NTF3 neurotrophin 3 gene DOID:5419 schizophrenia ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572319 12202980 NTF3 neurotrophin 3 gene DOID:630 genetic disease ISO RGD:732368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12202980 NTF3 neurotrophin 3 gene DOID:6419 tetralogy of Fallot ISO RGD:732369 D RGD:9068941 20220825 MouseDO OMIM:187500 12202980 NTF3 neurotrophin 3 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023256 12202980 NTF3 neurotrophin 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:732368 D RGD:9068941 20200609 RGD PMID:16022868|REF_RGD_ID:4891112 12202980 NTF3 neurotrophin 3 gene DOID:9002211 Hyperalgesia ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15659614 12202980 NTF3 neurotrophin 3 gene DOID:9002955 Nerve Degeneration ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8921280|PMID:8978711 12202980 NTF3 neurotrophin 3 gene DOID:9004538 Hearing Loss ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18024279 12202980 NTF3 neurotrophin 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:732368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12202980 NTF3 neurotrophin 3 gene DOID:9743 diabetic neuropathy ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11779407 12203000 PSMB10 proteasome 20S subunit beta 10 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1316619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12203000 PSMB10 proteasome 20S subunit beta 10 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1316619 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12203000 PSMB10 proteasome 20S subunit beta 10 gene DOID:630 genetic disease ISO RGD:1316619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12203000 PSMB10 proteasome 20S subunit beta 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316619 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12203000 PSMB10 proteasome 20S subunit beta 10 gene DOID:9009033 Proteasome-Associated Autoinflammatory Syndrome 5 ISO RGD:1316619 D RGD:7240710 20210303 OMIM 12203000 PSMB10 proteasome 20S subunit beta 10 gene DOID:9009033 Proteasome-Associated Autoinflammatory Syndrome 5 ISO RGD:1316619 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 5 PMID:25741868|PMID:31783057 12203012 CCDC57 coiled-coil domain containing 57 gene DOID:630 genetic disease ISO RGD:1605253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12203061 POT1 protection of telomeres 1 gene DOID:0080014 chromosomal disease ISO RGD:1344340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23502782 12203061 POT1 protection of telomeres 1 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1344340 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:25741868|PMID:28492532 12203061 POT1 protection of telomeres 1 gene DOID:1037 lymphoid leukemia ISO RGD:1344340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23502782|PMID:24292274 12203061 POT1 protection of telomeres 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1344340 D RGD:9068941 20220218 RGD PMID:18425352|REF_RGD_ID:151356939 12203061 POT1 protection of telomeres 1 gene DOID:1324 lung cancer ISO RGD:1344340 D RGD:9068941 20220218 RGD DNA:SNP: : rs10244817 (human) PMID:19285750|REF_RGD_ID:151356947 12203061 POT1 protection of telomeres 1 gene DOID:1324 lung cancer ISO RGD:1344340 D RGD:9068941 20220218 RGD DNA:SNP: :p.V326A (rs75932146) (human) PMID:32514122|REF_RGD_ID:151356948 12203061 POT1 protection of telomeres 1 gene DOID:1324 lung cancer ISO RGD:1344340 D RGD:9068941 20220218 RGD DNA:SNP: :rs116895242 (human) PMID:27459707|REF_RGD_ID:151356949 12203061 POT1 protection of telomeres 1 gene DOID:1909 melanoma ISO RGD:1344340 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:24686849 12203061 POT1 protection of telomeres 1 gene DOID:1949 cholecystitis ISO RGD:1344340 D RGD:9068941 20220218 RGD mRNA:decreased expression:gall bladder PMID:28643740|REF_RGD_ID:151356941 12203061 POT1 protection of telomeres 1 gene DOID:2394 ovarian cancer ISO RGD:1344340 D RGD:9068941 20220218 RGD DNA:SNP: :rs116895242 (human) PMID:27459707|REF_RGD_ID:151356949 12203061 POT1 protection of telomeres 1 gene DOID:3070 high grade glioma ISO RGD:1344340 D RGD:7240710 20230517 OMIM 12203061 POT1 protection of telomeres 1 gene DOID:3070 high grade glioma ISO RGD:1344340 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 9 PMID:24686846|PMID:25482530|PMID:27329137|PMID:28393830|PMID:28393832|PMID:28492532|PMID:29625052|PMID:32907878 12203061 POT1 protection of telomeres 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12203061 POT1 protection of telomeres 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1344340 D RGD:9068941 20220602 RGD associated with hepatitis B;DNA:SNP: :rs7784168(human) PMID:23907815|REF_RGD_ID:152975963 12203061 POT1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:7240710 20230517 OMIM 12203061 POT1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30975761|PMID:31919090|PMID:32155570|PMID:33119245|PMID:9536098 12203061 POT1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:32155570|PMID:32325837|PMID:32907878|PMID:33119245|PMID:33216348|PMID:9536098 12203061 POT1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:32155570|PMID:32325837|PMID:32907878|PMID:33119245|PMID:33216348|PMID:34193977|PMID:9536098 12203061 POT1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:34193977|PMID:9536098 12203061 POT1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:34193977|PMID:35727838|PMID:9536098 12203061 POT1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 12203061 POT1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 12203061 POT1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 12203061 POT1 protection of telomeres 1 gene DOID:9000881 Cutaneous Malignant Melanoma, Susceptibility To, 1 ISO RGD:1344340 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 PMID:24686846|PMID:25741868|PMID:28492532|PMID:30451293|PMID:30586141|PMID:34193977 12203061 POT1 protection of telomeres 1 gene DOID:9000987 Cerebroretinal Microangiopathy with Calcifications and Cysts 3 ISO RGD:1344340 D RGD:7240710 20230517 OMIM 12203061 POT1 protection of telomeres 1 gene DOID:9004464 Skin Neoplasms ISO RGD:1344340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24686849 12203061 POT1 protection of telomeres 1 gene DOID:9004814 Chromosome Aberrations ISO RGD:1344340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23502782 12203061 POT1 protection of telomeres 1 gene DOID:9005799 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 8 ISO RGD:1344340 D RGD:7240710 20230517 OMIM 12203061 POT1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17576681|PMID:19461895|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26467025|PMID:27329137|PMID:27528712|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:32155570|PMID:32907878|PMID:33216348|PMID:9536098 12203061 POT1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:19461895|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:32155570|PMID:32907878|PMID:33119245|PMID:33216348|PMID:34193977|PMID:9536098 12203061 POT1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:34193977|PMID:35727838|PMID:9536098 12203061 POT1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 12203061 POT1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 12203061 POT1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 12203061 POT1 protection of telomeres 1 gene DOID:9256 colorectal cancer ISO RGD:1344340 D RGD:9068941 20220218 RGD DNA:SNP: :rs116895242 (human) PMID:27459707|REF_RGD_ID:151356949 12203061 POT1 protection of telomeres 1 gene DOID:9256 colorectal cancer ISO RGD:1344340 D RGD:9068941 20220218 RGD DNA:SNP: :rs2975843 (human) PMID:32586834|REF_RGD_ID:151356943 12203061 POT1 protection of telomeres 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1344340 D RGD:9068941 20220218 RGD mRNA:increased expression:colorectum PMID:25194444|REF_RGD_ID:151356940 12203093 CASTOR1 cytosolic arginine sensor for mTORC1 subunit 1 gene DOID:630 genetic disease ISO RGD:2306475 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12203106 MAEA macrophage erythroblast attacher, E3 ubiquitin ligase gene DOID:1856 cherubism ISO RGD:1320456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12203106 MAEA macrophage erythroblast attacher, E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1320456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12203106 MAEA macrophage erythroblast attacher, E3 ubiquitin ligase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1320456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158537 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:0050771 pheochromocytoma ISO RGD:69062 D RGD:9068941 20201211 RGD PMID:12036912|REF_RGD_ID:619590 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:0050773 paraganglioma ISO RGD:69062 D RGD:9068941 20201211 RGD PMID:12036912|REF_RGD_ID:619590 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:0050868 hepatocellular adenoma ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17620307 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:0050908 myelodysplastic syndrome ISO RGD:69115 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:9171997|REF_RGD_ID:10450601 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:69115 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:0080137 multiple endocrine neoplasia type 4 ISO RGD:69115 D RGD:7240710 20180130 OMIM 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:0080137 multiple endocrine neoplasia type 4 ISO RGD:69115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia type 4 PMID:11986963|PMID:15026335|PMID:15607373|PMID:16199547|PMID:17030811|PMID:17372254|PMID:17519308|PMID:17576681|PMID:19141585|PMID:20075119|PMID:20530095|PMID:20824794|PMID:21289244|PMID:21454826|PMID:21575944|PMID:22026581|PMID:22291433|PMID:22547391|PMID:23273568|PMID:23505216|PMID:23555276|PMID:24033266|PMID:24819502|PMID:25058500|PMID:25586243|PMID:25741868|PMID:26065650|PMID:26467025|PMID:26603463|PMID:26762354|PMID:26829051|PMID:26989398|PMID:27038812|PMID:27153395|PMID:27997549|PMID:28425505|PMID:28492532|PMID:28667701|PMID:28687353|PMID:28801450|PMID:29625052|PMID:30065701|PMID:30990521|PMID:31980526|PMID:32052251|PMID:32232325|PMID:32386678|PMID:32761341|PMID:33140857|PMID:3328816|PMID:33316141|PMID:34426522|PMID:35355569|PMID:9536098 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:69115 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:10976 membranous glomerulonephritis treatment ISO RGD:69062 D RGD:9068941 20200609 RGD PMID:24583340|REF_RGD_ID:10045363 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:18334837|REF_RGD_ID:2293592 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:69116 D RGD:9068941 20200609 RGD PMID:18027869|REF_RGD_ID:2293595 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:11202 primary hyperparathyroidism ISO RGD:69115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperparathyroidism PMID:21289244|PMID:25741868|PMID:26762354|PMID:26989398|PMID:27038812|PMID:27153395|PMID:28492532|PMID:30990521|PMID:3328816 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:11446 sciatic neuropathy ISO RGD:69062 D RGD:9068941 20200609 RGD protein:decreased expression:sciatic nerve PMID:21959983|REF_RGD_ID:10045367 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:1324 lung cancer disease_progression ISO RGD:69062 D RGD:9068941 20220707 RGD protein:decreased expression:lung (rat) PMID:20512841|REF_RGD_ID:152998913 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:1612 breast cancer ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:18030569|REF_RGD_ID:2293594 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:1612 breast cancer ISO RGD:69115 D RGD:9068941 20200609 RGD DNA:SNP PMID:18174243|REF_RGD_ID:2289652 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:1612 breast cancer ISO RGD:69115 D RGD:9068941 20200609 RGD protein:increased localization:cytoplasm PMID:12244302|REF_RGD_ID:734746 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:1686 glaucoma ISO RGD:69062 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:retina, Muller cell PMID:16707124|REF_RGD_ID:2293623 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:169 neuroendocrine tumor ISO RGD:69115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroendocrine neoplasm 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:1984 rectal benign neoplasm ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15525823 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:2154 nephroblastoma disease_progression ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:14760081|REF_RGD_ID:2293605 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:2394 ovarian cancer ISO RGD:69115 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:17372254|PMID:25741868|PMID:28492532 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:10886076|REF_RGD_ID:2293608 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:2696 Leydig cell tumor ISO RGD:69116 D RGD:9068941 20200609 RGD associated with Multiple Endocrine Neoplasia Type 1;protein:decreased activity:testes PMID:18310289|REF_RGD_ID:2293582 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:69062 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16787597|REF_RGD_ID:2293620 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:3021 acute kidney failure ISO RGD:69062 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16557226|REF_RGD_ID:2293624 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:3125 multiple endocrine neoplasia ISO RGD:69115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia PMID:28492532 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:3125 multiple endocrine neoplasia susceptibility ISO RGD:69062 D RGD:9068941 20200609 RGD DNA, protein:frameshift mutation, decreased expression PMID:17030811|REF_RGD_ID:2293616 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:3829 pituitary adenoma ISO RGD:69062 D RGD:9068941 20201211 RGD PMID:12036912|REF_RGD_ID:619590 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:9500468|REF_RGD_ID:13673920 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:4448 macular degeneration ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:20054800|REF_RGD_ID:10043353 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:4450 renal cell carcinoma ISO RGD:69115 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:18425369|REF_RGD_ID:2293590 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:69115 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:17924468|PMID:18495610|REF_RGD_ID:2289127|REF_RGD_ID:2293589 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:5223 infertility ISO RGD:69062 D RGD:9068941 20210611 RGD PMID:30893315|REF_RGD_ID:126908018 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:5409 lung small cell carcinoma ISO RGD:69115 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:9500468|REF_RGD_ID:13673920 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:5844 myocardial infarction ISO RGD:69116 D RGD:9068941 20200609 RGD PMID:22492676|REF_RGD_ID:10045366 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:5844 myocardial infarction treatment ISO RGD:69062 D RGD:9068941 20200609 RGD PMID:22492676|REF_RGD_ID:10045366 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:630 genetic disease ISO RGD:69115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:6432 pulmonary hypertension treatment ISO RGD:69062 D RGD:9068941 20200609 RGD PMID:22383500|REF_RGD_ID:10045357 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:684 hepatocellular carcinoma ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20698225 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:83 cataract ISO RGD:69062 D RGD:9068941 20210416 RGD PMID:12036912|PMID:17030811|REF_RGD_ID:2293616|REF_RGD_ID:619590 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:83 cataract ISO RGD:69062 D RGD:9068941 20210514 RGD in KO rat PMID:30893315|REF_RGD_ID:126908018 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:8469 influenza ISO RGD:69116 D RGD:9068941 20221110 RGD PMID:20081832|REF_RGD_ID:155641261 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:8541 Sezary's disease ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:8552 chronic myeloid leukemia ISO RGD:69115 D RGD:9068941 20200609 RGD Protein:increased expression:Blood,common myeloid progenitor, CD34-positive PMID:20200561|REF_RGD_ID:13673878 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:8634 prostate carcinoma in situ ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20932324 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:8634 prostate carcinoma in situ ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:18691549|REF_RGD_ID:2299085 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:69115 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium PMID:18301453|REF_RGD_ID:2293574 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9000039 Spinal Cord Injuries ISO RGD:69062 D RGD:9068941 20200609 RGD protein:decreased expression, altered localization:spinal cord, neuron, microglial cell PMID:18319192|REF_RGD_ID:2293615 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9000081 Lymphatic Metastasis ISO RGD:69115 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:12015771|REF_RGD_ID:2293607 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9000081 Lymphatic Metastasis ISO RGD:69115 D RGD:9068941 20200609 RGD associated with non-small cell lung carcinoma PMID:28601655|REF_RGD_ID:13673921 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9000189 Fallopian Tube Neoplasms ISO RGD:69115 D RGD:9068941 20200609 RGD protein:decreased expression:fallopian tube PMID:17927588|REF_RGD_ID:2299088 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9000217 Stomach Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15138205 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9000784 Fibrosis ISO RGD:69062 D RGD:9068941 20200609 RGD protein:decreased expression:renal tubule PMID:16137007|REF_RGD_ID:2293625 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9000998 Brain Injuries ISO RGD:69062 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex PMID:21728064|REF_RGD_ID:10045359 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9001341 Chloracne ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:69062 D RGD:9068941 20220707 RGD mRNA:increased expression:liver (rat) PMID:19533683|REF_RGD_ID:2315050 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9002165 Diabetic Nephropathies ISO RGD:69062 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, glomerulus PMID:15698433|REF_RGD_ID:2293628 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9002165 Diabetic Nephropathies ISO RGD:69062 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:16805985|REF_RGD_ID:2293619 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9002234 Pituitary Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16391232 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9002245 Intestinal Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24185511 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9002265 Kidney Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21693435 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9002304 Prostatic Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12727815|PMID:20932324|PMID:29610475 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9002304 Prostatic Neoplasms ISO RGD:69116 D RGD:9068941 20200609 RGD PMID:18006855|REF_RGD_ID:2293596 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9002304 Prostatic Neoplasms severity ISO RGD:69115 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:18415709|REF_RGD_ID:2293591 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9002704 Leukoencephalopathies treatment ISO RGD:69062 D RGD:9068941 20200609 RGD PMID:24322053|REF_RGD_ID:10045369 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9002762 Ovarian Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16391232 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9002762 Ovarian Neoplasms ISO RGD:69116 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:11376116|REF_RGD_ID:2293610 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:15701850|REF_RGD_ID:2299089 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:69115 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium PMID:18301453|REF_RGD_ID:2293574 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9003566 Mesothelioma ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18301454 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9004009 Reperfusion Injury ISO RGD:69062 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:15799773|REF_RGD_ID:2293627 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9004207 Testicular Neoplasms ISO RGD:69116 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:11376116|REF_RGD_ID:2293610 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9004265 Endometrioid Carcinomas ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:17985331|REF_RGD_ID:2299091 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9004268 Uterine Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16391232 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:69062 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:9321826|REF_RGD_ID:2293630 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9005172 Lung Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12466968|PMID:16391232|PMID:20512841 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69062 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland PMID:15844214|REF_RGD_ID:2293626 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:69062 D RGD:9068941 20200609 RGD PMID:22651929|REF_RGD_ID:10045559 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9005539 Familial Prostate Cancer ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69115 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15026335|PMID:15607373|PMID:17030811|PMID:17372254|PMID:17576681|PMID:19141585|PMID:20075119|PMID:20824794|PMID:21289244|PMID:21454826|PMID:21575944|PMID:22026581|PMID:22291433|PMID:22547391|PMID:23273568|PMID:23505216|PMID:24033266|PMID:24819502|PMID:25058500|PMID:25586243|PMID:25741868|PMID:26065650|PMID:26467025|PMID:26603463|PMID:26762354|PMID:26989398|PMID:27038812|PMID:27153395|PMID:27997549|PMID:28425505|PMID:28492532|PMID:28667701|PMID:28687353|PMID:28801450|PMID:29625052|PMID:30065701|PMID:30990521|PMID:31980526|PMID:32052251|PMID:32232325|PMID:32386678|PMID:32761341|PMID:33140857|PMID:3328816|PMID:33316141|PMID:34426522|PMID:35355569|PMID:9536098 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9007188 Liver Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16391232 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9007715 Endometrial Neoplasms ISO RGD:69115 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium PMID:15188025|REF_RGD_ID:2299090 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9008114 Helicobacter Infections ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15138205 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9008939 Breast Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17092400 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9119 acute myeloid leukemia ISO RGD:69115 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:9171997|REF_RGD_ID:10450601 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9669 senile cataract ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:21501079|REF_RGD_ID:10045354 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9970 obesity ISO RGD:69062 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:23357529|REF_RGD_ID:10045356 12203177 CDKN1B cyclin dependent kinase inhibitor 1B gene DOID:9970 obesity ISO RGD:69116 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:23357529|REF_RGD_ID:10045356 12203187 ACTR6 actin related protein 6 gene DOID:630 genetic disease ISO RGD:1312146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317732 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:11479539|PMID:11916958|PMID:14557463|PMID:14981520|PMID:15732094|PMID:16199547|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:17486577|PMID:17576681|PMID:18057387|PMID:18585921|PMID:18790819|PMID:19041432|PMID:19226263|PMID:19396477|PMID:20598714|PMID:20806400|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23142943|PMID:23292937|PMID:23553728|PMID:23564749|PMID:23963299|PMID:24024128|PMID:24345054|PMID:24604904|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25588603|PMID:25741868|PMID:25832430|PMID:26282322|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27144933|PMID:27564575|PMID:27612026|PMID:27738760|PMID:27862672|PMID:27868354|PMID:28166811|PMID:28362824|PMID:28492532|PMID:28832565|PMID:29336362|PMID:29482223|PMID:30903322|PMID:31372974|PMID:31475473|PMID:31770241|PMID:32397312|PMID:5964029|PMID:9536098 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:11479539|PMID:11916958|PMID:12030893|PMID:14557463|PMID:14981520|PMID:15732094|PMID:16199547|PMID:16427281|PMID:16574104|PMID:16735770|PMID:1674639|PMID:17387721|PMID:17486577|PMID:17535271|PMID:17576681|PMID:18057387|PMID:18585921|PMID:18790819|PMID:19041432|PMID:19226263|PMID:19396477|PMID:19762912|PMID:19763152|PMID:20307669|PMID:20598714|PMID:20806400|PMID:21126715|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22406018|PMID:22474068|PMID:23142943|PMID:23292937|PMID:23553728|PMID:23564749|PMID:23659685|PMID:23963299|PMID:24024128|PMID:24345054|PMID:24604904|PMID:24778225|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25588603|PMID:25741868|PMID:25832430|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27144933|PMID:27452399|PMID:27549087|PMID:27564575|PMID:27612026|PMID:27632409|PMID:27738760|PMID:27862672|PMID:27868354|PMID:28362824|PMID:28492532|PMID:28832565|PMID:28916377|PMID:29336362|PMID:29478747|PMID:29482223|PMID:29934652|PMID:30150100|PMID:30903322|PMID:30919572|PMID:31372974|PMID:31475473|PMID:31770241|PMID:32041611|PMID:32397312|PMID:32792356|PMID:5964029|PMID:9536098 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317732 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:11479539|PMID:11916958|PMID:12030893|PMID:14557463|PMID:14981520|PMID:15732094|PMID:16199547|PMID:16427281|PMID:16574104|PMID:16735770|PMID:1674639|PMID:17387721|PMID:17486577|PMID:17535271|PMID:17576681|PMID:18057387|PMID:18585921|PMID:18790819|PMID:19041432|PMID:19226263|PMID:19396477|PMID:19762912|PMID:19763152|PMID:20307669|PMID:20598714|PMID:20806400|PMID:21126715|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22406018|PMID:22474068|PMID:23142943|PMID:23292937|PMID:23553728|PMID:23564749|PMID:23659685|PMID:23963299|PMID:24024128|PMID:24345054|PMID:24604904|PMID:24778225|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25588603|PMID:25741868|PMID:25832430|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27144933|PMID:27452399|PMID:27549087|PMID:27612026|PMID:27632409|PMID:27738760|PMID:27862672|PMID:27868354|PMID:28362824|PMID:28492532|PMID:28832565|PMID:28916377|PMID:29336362|PMID:29478747|PMID:29482223|PMID:29934652|PMID:30150100|PMID:30903322|PMID:30919572|PMID:31372974|PMID:31475473|PMID:31770241|PMID:32041611|PMID:32397312|PMID:32792356|PMID:5964029|PMID:9536098 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0050585 congenital generalized lipodystrophy ISO RGD:1317732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brunzell syndrome | ClinVar Annotator: match by term: Congenital generalized lipodystrophy | ClinVar Annotator: match by term: Congenital lipoatrophic diabetes PMID:11479539|PMID:18093937|PMID:23564749|PMID:25741868|PMID:26467025|PMID:27452399|PMID:28492532 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0050788 proximal symphalangism ISO RGD:1317732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0070204 familial partial lipodystrophy type 3 ISO RGD:1317732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PPARG-related familial partial lipodystrophy 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1317732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0110770 hereditary spastic paraplegia 17 ISO RGD:1317732 D RGD:7240710 20180130 OMIM 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0110770 hereditary spastic paraplegia 17 ISO RGD:1317732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant spastic paraplegia type 17 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 PMID:14981520|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:17486577|PMID:18585921|PMID:18790819|PMID:19396477|PMID:20598714|PMID:20806400|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23142943|PMID:23553728|PMID:24345054|PMID:24604904|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25741868|PMID:25832430|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27549087|PMID:27738760|PMID:27862672|PMID:28362824|PMID:28492532|PMID:31372974|PMID:31475473|PMID:5964029 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1317732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0111136 congenital generalized lipodystrophy type 2 ISO RGD:1317732 D RGD:7240710 20180523 OMIM 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0111136 congenital generalized lipodystrophy type 2 ISO RGD:1317732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BRUNZELL SYNDROME, BSCL2-RELATED | ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2 | ClinVar Annotator: match by term: Congenital lipoatrophic diabetes PMID:11479539|PMID:11916958|PMID:12030893|PMID:12362029|PMID:14557463|PMID:15126564|PMID:17535271|PMID:17576681|PMID:18057387|PMID:18093937|PMID:19041432|PMID:19226263|PMID:19762912|PMID:20301391|PMID:21126715|PMID:23564749|PMID:23659685|PMID:23963299|PMID:23989774|PMID:24778225|PMID:25588603|PMID:25741868|PMID:26072926|PMID:26467025|PMID:27144933|PMID:27452399|PMID:27612026|PMID:27632409|PMID:28492532|PMID:28916377|PMID:29478747|PMID:30903322|PMID:31770241|PMID:32041611|PMID:32792356|PMID:9536098 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0111203 distal hereditary motor neuronopathy type 5 ISO RGD:1317732 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 5 PMID:14981520|PMID:17387721|PMID:17486577|PMID:20806400|PMID:21957196|PMID:24604904|PMID:25487175|PMID:25741868|PMID:25832430|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27738760|PMID:27862672|PMID:28362824|PMID:28492532|PMID:31372974|PMID:31475473 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0111204 distal hereditary motor neuronopathy type 5A ISO RGD:1317732 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: HMN 5A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A PMID:14981520|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:17486577|PMID:18585921|PMID:18790819|PMID:19226263|PMID:19396477|PMID:20598714|PMID:20806400|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23553728|PMID:23963299|PMID:23989774|PMID:24345054|PMID:24604904|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25588603|PMID:25741868|PMID:25832430|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27144933|PMID:27738760|PMID:27862672|PMID:28362824|PMID:28492532|PMID:31372974|PMID:31475473|PMID:5964029 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:1059 intellectual disability ISO RGD:1317732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1317732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:17387721|PMID:17486577|PMID:20806400|PMID:21957196|PMID:23142943|PMID:24604904|PMID:25487175|PMID:26815532|PMID:27549087|PMID:28492532 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:12336 male infertility ISO RGD:1317733 D RGD:9068941 20220825 MouseDO 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:14227 azoospermia ISO RGD:1308135 D RGD:9068941 20200609 RGD PMID:25934999|REF_RGD_ID:11085488 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:14228 oligospermia ISO RGD:1317732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26181198 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317732 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:11479539|PMID:14981520|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:18585921|PMID:18790819|PMID:19396477|PMID:20598714|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23553728|PMID:23963299|PMID:24345054|PMID:25219579|PMID:25454168|PMID:25588603|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28492532|PMID:28832565|PMID:30004997|PMID:5964029 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:11479539|PMID:14981520|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:18585921|PMID:18790819|PMID:19396477|PMID:20598714|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23553728|PMID:23963299|PMID:24345054|PMID:25219579|PMID:25454168|PMID:25588603|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28832565|PMID:5964029 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:3459 breast carcinoma ISO RGD:1317732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast carcinoma 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:574 peripheral nervous system disease ISO RGD:1317732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:14981520|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:18585921|PMID:18790819|PMID:19396477|PMID:20598714|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23553728|PMID:24345054|PMID:25219579|PMID:25454168|PMID:25741868|PMID:26467025|PMID:28492532|PMID:5964029 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:630 genetic disease ISO RGD:1317732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11479539|PMID:12362029|PMID:14981520|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:18585921|PMID:18790819|PMID:19226263|PMID:19396477|PMID:20301391|PMID:20598714|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23553728|PMID:23963299|PMID:24345054|PMID:25219579|PMID:25454168|PMID:25588603|PMID:25741868|PMID:26072926|PMID:26467025|PMID:28492532|PMID:29336362|PMID:30150100|PMID:32041611|PMID:32397312|PMID:5964029 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:811 lipodystrophy ISO RGD:1317732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lipodystrophy PMID:25741868 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:870 neuropathy ISO RGD:1317732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:14981520|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:18585921|PMID:18790819|PMID:19396477|PMID:20598714|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23553728|PMID:24345054|PMID:25219579|PMID:25454168|PMID:25741868|PMID:26467025|PMID:28492532|PMID:5964029 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9001239 Delayed Puberty ISO RGD:1317732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25462787 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9001513 Asthenozoospermia ISO RGD:1317732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26181198 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9002605 Delayed Hypersensitivity ISO RGD:1317732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Reduced delayed hypersensitivity 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9004262 Isolated Systolic Hypertension ISO RGD:1317732 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated systolic hypertension PMID:25741868|PMID:28492532 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9006205 Animal Disease Models ISO RGD:1317732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25462787 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9006235 Distal Hereditary Motor Neuronopathy Type 5C ISO RGD:1317732 D RGD:7240710 20201223 OMIM 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9006235 Distal Hereditary Motor Neuronopathy Type 5C ISO RGD:1317732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DHMN VC | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5C PMID:11479539|PMID:12362029|PMID:14981520|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:17486577|PMID:18585921|PMID:18790819|PMID:19226263|PMID:19396477|PMID:20301391|PMID:20598714|PMID:20806400|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23142943|PMID:23292937|PMID:23553728|PMID:24345054|PMID:24604904|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25741868|PMID:25832430|PMID:26072926|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27549087|PMID:27738760|PMID:27862672|PMID:28362824|PMID:28492532|PMID:31372974|PMID:31475473|PMID:32397312|PMID:5964029 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9007692 Insulin Resistance ISO RGD:1308135 D RGD:9068941 20200609 RGD PMID:25934999|REF_RGD_ID:11085488 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9007902 Progressive Encephalopathy, with or without Lipodystrophy ISO RGD:1317732 D RGD:7240710 20180130 OMIM 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9007902 Progressive Encephalopathy, with or without Lipodystrophy ISO RGD:1317732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, with or without lipodystrophy PMID:11479539|PMID:18093937|PMID:19226263|PMID:23564749|PMID:24024128|PMID:25741868|PMID:27452399|PMID:28492532 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9351 diabetes mellitus ISO RGD:1317732 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:23430896|PMID:23963299|PMID:25588603|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30004997 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9351 diabetes mellitus ISO RGD:1317732 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:23430896|PMID:23963299|PMID:25588603|PMID:25741868|PMID:26467025|PMID:28492532 12203206 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1308135 D RGD:9068941 20200609 RGD PMID:12584444|REF_RGD_ID:1600600 12203240 DBI diazepam binding inhibitor, acyl-CoA binding protein gene DOID:305 carcinoma ISO RGD:736302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12203240 DBI diazepam binding inhibitor, acyl-CoA binding protein gene DOID:630 genetic disease ISO RGD:736302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12203240 DBI diazepam binding inhibitor, acyl-CoA binding protein gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12203240 DBI diazepam binding inhibitor, acyl-CoA binding protein gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0050685 small cell carcinoma ISO RGD:1348890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24658001|PMID:24658002|PMID:24658004|PMID:26343384 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0050902 medulloblastoma ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26822237 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1348890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features PMID:17576681|PMID:18414213|PMID:21280140|PMID:24728327|PMID:25741868|PMID:26353884|PMID:26467025|PMID:27701467|PMID:28166811|PMID:28492532|PMID:9536098 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1348890 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES PMID:15756273|PMID:18414213|PMID:18437052|PMID:21280140|PMID:24728327|PMID:25741868|PMID:26353884|PMID:26467025|PMID:26744134|PMID:27701467|PMID:28492532|PMID:28875981|PMID:29758562|PMID:33680622 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0070046 Coffin-Siris syndrome 4 ISO RGD:1348890 D RGD:7240710 20180130 OMIM 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0070046 Coffin-Siris syndrome 4 ISO RGD:1348890 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy PMID:10601012|PMID:15756273|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18437052|PMID:21280140|PMID:22426308|PMID:23637025|PMID:23929686|PMID:24658001|PMID:24658002|PMID:24728327|PMID:25058500|PMID:25169753|PMID:25231023|PMID:25275049|PMID:25326635|PMID:25741868|PMID:25918285|PMID:26353884|PMID:26467025|PMID:26580448|PMID:26744134|PMID:26901136|PMID:27701467|PMID:27930734|PMID:28135719|PMID:28202063|PMID:28492532|PMID:28873162|PMID:28875981|PMID:28973083|PMID:29095814|PMID:29641532|PMID:29758562|PMID:30029678|PMID:30111351|PMID:30973214|PMID:31097095|PMID:31470906|PMID:31530938|PMID:31785789|PMID:32376391|PMID:32686290|PMID:33680622|PMID:35047860|PMID:36474027|PMID:9536098 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1348890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0111254 glutaric acidemia I ISO RGD:1348890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0112018 non-syndromic X-linked intellectual disability 104 ISO RGD:1348890 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 PMID:25741868 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:10283 prostate cancer disease_progression ISO RGD:1348890 D RGD:9068941 20200609 RGD PMID:17075831|REF_RGD_ID:2302527 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:10283 prostate cancer no_association ISO RGD:1348890 D RGD:9068941 20200609 RGD absence of somatic mutations in the samples used PMID:12684665|REF_RGD_ID:2302528 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1059 intellectual disability ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:25741868|PMID:28492532 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:10907 microcephaly ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1115 sarcoma ISO RGD:1348890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26343384 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:12849 autistic disorder ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1324 lung cancer ISO RGD:1348890 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:13810 familial hypercholesterolemia ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:1998642|PMID:25741868|PMID:28492532 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1612 breast cancer ISO RGD:1348890 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1657 ventricular septal defect ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:25741868 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1826 epilepsy ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1882 atrial heart septal defect ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:28492532 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1925 Coffin-Siris syndrome ISO RGD:1348890 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome | ClinVar Annotator: match by term: Fifth digit syndrome PMID:15756273|PMID:18414213|PMID:18437052|PMID:21280140|PMID:24728327|PMID:25741868|PMID:26353884|PMID:26467025|PMID:26744134|PMID:27701467|PMID:28492532|PMID:28875981|PMID:29758562|PMID:33680622 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1969 cerebral palsy ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:28492532 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1348890 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:28973294 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:3413 alpha-mannosidosis ISO RGD:1348890 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1348890 D RGD:9068941 20200609 RGD PMID:15287030|REF_RGD_ID:2302526 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:3948 adrenocortical carcinoma ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:540 strabismus ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:5409 lung small cell carcinoma ISO RGD:1348890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26343384 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1348890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28671688 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:630 genetic disease ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10601012|PMID:22426308|PMID:23637025|PMID:23929686|PMID:25741868|PMID:27479843|PMID:27866340|PMID:28492532 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:674 cleft palate ISO RGD:1348890 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:22426308|PMID:25741868|PMID:28973083 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:6741 bilateral breast cancer ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: bilateral breast cancer PMID:28492532 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1348890 D RGD:9068941 20210625 RGD DNA:SNPs: :rs11879293, rs2072382 (human) PMID:24556940|REF_RGD_ID:127285650 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:769 neuroblastoma ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:25741868 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:8541 Sezary's disease ISO RGD:1348890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:8584 Burkitt lymphoma ISO RGD:1348890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9001988 Rhabdoid Tumor Predisposition Syndrome 2 ISO RGD:1348890 D RGD:7240710 20180130 OMIM 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9001988 Rhabdoid Tumor Predisposition Syndrome 2 ISO RGD:1348890 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 PMID:15756273|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18437052|PMID:19621450|PMID:20137775|PMID:21280140|PMID:21566516|PMID:22424359|PMID:22426308|PMID:23775540|PMID:23929686|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25169753|PMID:25231023|PMID:25275049|PMID:25640679|PMID:25741868|PMID:25918285|PMID:26230154|PMID:26343384|PMID:26353884|PMID:26467025|PMID:26552009|PMID:26564006|PMID:26580448|PMID:26744134|PMID:26822237|PMID:26901136|PMID:27701467|PMID:27930734|PMID:28135719|PMID:28202063|PMID:28492532|PMID:28608987|PMID:28873162|PMID:28875981|PMID:28973083|PMID:28990276|PMID:29102090|PMID:29271065|PMID:29641532|PMID:29706634|PMID:29758562|PMID:30029678|PMID:30093976|PMID:30111351|PMID:30662543|PMID:30973214|PMID:31097095|PMID:31190001|PMID:31278258|PMID:31419753|PMID:31470906|PMID:31530938|PMID:31785789|PMID:32376391|PMID:32686290|PMID:33680622|PMID:34970085|PMID:35047860|PMID:36474027|PMID:8269278|PMID:9536098 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1348890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:25741868|PMID:28492532 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:621728 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:heart left ventricle PMID:23702776|REF_RGD_ID:9586349 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1348890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27422367 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:621728 D RGD:9068941 20200609 RGD PMID:23853776|REF_RGD_ID:9586347 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18414213|PMID:18437052|PMID:20137775|PMID:21280140|PMID:21566516|PMID:23929686|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25231023|PMID:25275049|PMID:25741868|PMID:25886974|PMID:25918285|PMID:26353884|PMID:26467025|PMID:26564006|PMID:26580448|PMID:26822237|PMID:26901136|PMID:27701467|PMID:27866340|PMID:28166811|PMID:28202063|PMID:28492532|PMID:28873162|PMID:29102090|PMID:29271065|PMID:30111351|PMID:30973214|PMID:31097095|PMID:9536098 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348890 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18414213|PMID:20137775|PMID:21280140|PMID:21566516|PMID:23929686|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25231023|PMID:25275049|PMID:25741868|PMID:25886974|PMID:25918285|PMID:26353884|PMID:26467025|PMID:26564006|PMID:26580448|PMID:26822237|PMID:26901136|PMID:27701467|PMID:27854218|PMID:27866340|PMID:28202063|PMID:28492532|PMID:28873162|PMID:29102090|PMID:29271065|PMID:30111351|PMID:31097095|PMID:9536098 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348890 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18414213|PMID:20137775|PMID:21280140|PMID:21566516|PMID:23775540|PMID:23929686|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25231023|PMID:25275049|PMID:25741868|PMID:25886974|PMID:25918285|PMID:26353884|PMID:26467025|PMID:26564006|PMID:26580448|PMID:26822237|PMID:26901136|PMID:26942101|PMID:27701467|PMID:27854218|PMID:27866340|PMID:28202063|PMID:28492532|PMID:28873162|PMID:29102090|PMID:29271065|PMID:29446248|PMID:30111351|PMID:30973214|PMID:31097095|PMID:31954538|PMID:32575483|PMID:9536098 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348890 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11085541|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20137775|PMID:21280140|PMID:21566516|PMID:23775540|PMID:23929686|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25169753|PMID:25231023|PMID:25275049|PMID:25741868|PMID:25886974|PMID:25918285|PMID:26343384|PMID:26353884|PMID:26467025|PMID:26552009|PMID:26556299|PMID:26564006|PMID:26580448|PMID:26822237|PMID:26901136|PMID:26942101|PMID:27701467|PMID:27854218|PMID:27866340|PMID:27930734|PMID:28135719|PMID:28202063|PMID:28492532|PMID:28608987|PMID:28873162|PMID:28990276|PMID:29102090|PMID:29271065|PMID:29446248|PMID:29641532|PMID:29706634|PMID:30029678|PMID:30093976|PMID:30111351|PMID:30662543|PMID:30973214|PMID:31097095|PMID:31130284|PMID:31190001|PMID:31278258|PMID:31419753|PMID:31470906|PMID:31785789|PMID:31954538|PMID:32376391|PMID:32575483|PMID:33680622|PMID:34970085|PMID:8269278|PMID:9536098 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348890 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11085541|PMID:15756273|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18437052|PMID:20137775|PMID:21280140|PMID:21566516|PMID:23775540|PMID:23929686|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25169753|PMID:25231023|PMID:25275049|PMID:25741868|PMID:25886974|PMID:25918285|PMID:26343384|PMID:26353884|PMID:26467025|PMID:26552009|PMID:26556299|PMID:26564006|PMID:26580448|PMID:26744134|PMID:26822237|PMID:26901136|PMID:26942101|PMID:27701467|PMID:27866340|PMID:27930734|PMID:28135719|PMID:28202063|PMID:28492532|PMID:28608987|PMID:28873162|PMID:28875981|PMID:28990276|PMID:29102090|PMID:29271065|PMID:29446248|PMID:29641532|PMID:29706634|PMID:30029678|PMID:30093976|PMID:30111351|PMID:30662543|PMID:30973214|PMID:31097095|PMID:31130284|PMID:31190001|PMID:31278258|PMID:31419753|PMID:31470906|PMID:31785789|PMID:31954538|PMID:32376391|PMID:32575483|PMID:33680622|PMID:34970085|PMID:8269278|PMID:9536098 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348890 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11085541|PMID:15756273|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18437052|PMID:20137775|PMID:21280140|PMID:21566516|PMID:23775540|PMID:23929686|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25169753|PMID:25231023|PMID:25275049|PMID:25741868|PMID:25886974|PMID:25918285|PMID:26343384|PMID:26353884|PMID:26467025|PMID:26552009|PMID:26556299|PMID:26564006|PMID:26580448|PMID:26744134|PMID:26822237|PMID:26901136|PMID:26942101|PMID:27701467|PMID:27866340|PMID:27930734|PMID:28135719|PMID:28202063|PMID:28492532|PMID:28608987|PMID:28873162|PMID:28875981|PMID:28990276|PMID:29102090|PMID:29271065|PMID:29446248|PMID:29641532|PMID:29706634|PMID:29758562|PMID:30029678|PMID:30093976|PMID:30111351|PMID:30662543|PMID:30973214|PMID:31097095|PMID:31130284|PMID:31190001|PMID:31278258|PMID:31419753|PMID:31470906|PMID:31785789|PMID:31954538|PMID:32376391|PMID:32575483|PMID:33680622|PMID:34970085|PMID:35047860|PMID:36474027|PMID:8269278|PMID:9536098 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007920 Thoracic Neoplasms ISO RGD:1348890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26343384 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1348890 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9008797 Facial Asymmetry ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Facial asymmetry PMID:25741868 12203251 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9970 obesity ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:28492532 12203299 GOLGA4 golgin A4 gene DOID:37 skin disease ISO RGD:1352947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12203299 GOLGA4 golgin A4 gene DOID:630 genetic disease ISO RGD:1352947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12203299 GOLGA4 golgin A4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12203299 GOLGA4 golgin A4 gene DOID:9007964 Arsenic Poisoning ISO RGD:1352947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12203299 GOLGA4 golgin A4 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1352947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0050427 xeroderma pigmentosum ISO RGD:1312517 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:15159313|PMID:15886521|PMID:16550608|PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:26453996|PMID:26884178|PMID:27356891|PMID:27528516|PMID:27607234|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29325523|PMID:29403087|PMID:29892709|PMID:30165384|PMID:31692161|PMID:32008151|PMID:32659497|PMID:32756499|PMID:34117267|PMID:8797827|PMID:9485007|PMID:9579555|PMID:9580660 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0050952 spastic ataxia ISO RGD:1312517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:23623389|PMID:25741868|PMID:28492532|PMID:9580660 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0060590 XFE progeroid syndrome ISO RGD:1312517 D RGD:7240710 20180130 OMIM 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0060590 XFE progeroid syndrome ISO RGD:1312517 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: XFE progeroid syndrome PMID:15886521|PMID:17183314|PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:32008151|PMID:32659497|PMID:32756499|PMID:8797827|PMID:9579555 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0080638 B-cell acute lymphoblastic leukemia ISO RGD:1312517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Acute Lymphoblastic Leukemia PMID:23623386|PMID:25741868 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0110848 xeroderma pigmentosum group F ISO RGD:1312517 D RGD:7240710 20180130 OMIM 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0110848 xeroderma pigmentosum group F ISO RGD:1312517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group F | ClinVar Annotator: match by term: Xeroderma pigmentosum, type F/cockayne syndrome PMID:15159313|PMID:15886521|PMID:16199547|PMID:16550608|PMID:17183314|PMID:17576681|PMID:18767034|PMID:20221251|PMID:21228398|PMID:21612988|PMID:23407396|PMID:23623386|PMID:23623389|PMID:24004570|PMID:24027083|PMID:24033266|PMID:24412486|PMID:24465539|PMID:24728327|PMID:25741868|PMID:26074087|PMID:26453996|PMID:26884178|PMID:27356891|PMID:27528516|PMID:28292785|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28878254|PMID:29105242|PMID:29325523|PMID:29403087|PMID:29892709|PMID:30165384|PMID:30658521|PMID:31692161|PMID:32008151|PMID:32034146|PMID:32487094|PMID:32659497|PMID:32756499|PMID:32868804|PMID:34117267|PMID:8797827|PMID:9485007|PMID:9536098|PMID:9579555|PMID:9580660 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0111093 Fanconi anemia complementation group Q ISO RGD:1312517 D RGD:7240710 20180130 OMIM 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0111093 Fanconi anemia complementation group Q ISO RGD:1312517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group Q PMID:15886521|PMID:16550608|PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623386|PMID:23623389|PMID:24033266|PMID:24465539|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28292785|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:30165384|PMID:30658521|PMID:31692161|PMID:32008151|PMID:32487094|PMID:32659497|PMID:32756499|PMID:34117267|PMID:8797827|PMID:9579555 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:10534 stomach cancer exacerbates ISO RGD:1312517 D RGD:9068941 20221006 RGD mRNA:increased expression:stomach (human) PMID:30417012|REF_RGD_ID:155260342 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:10907 microcephaly ISO RGD:1312517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:28767289 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:11054 urinary bladder cancer ISO RGD:1312517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062074 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:14184 polyneuropathy due to drug treatment ISO RGD:1312517 D RGD:9068941 20221006 RGD associated with colorectal cancer;DNA:missense mutations:CDS:p.P379S, p.E875G (rs1799802, rs1800124) (human) PMID:35135151|REF_RGD_ID:155260345 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:1793 pancreatic cancer ISO RGD:1312517 D RGD:9068941 20200609 RGD pancreatic adenocarcinoma;DNA:SNP: :rs1800067(human) PMID:18544627|REF_RGD_ID:2317223 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:2394 ovarian cancer ISO RGD:1312517 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:28492532 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:2962 Cockayne syndrome ISO RGD:1312517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progeroid nanism PMID:25741868|PMID:28492532 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:3459 breast carcinoma ISO RGD:1312517 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:8797827|PMID:9579555 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:3911 progeria ISO RGD:1312517 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford syndrome PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:8797827|PMID:9579555 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:4905 pancreatic carcinoma ISO RGD:1312517 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:8797827|PMID:9579555 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:574 peripheral nervous system disease ISO RGD:1312517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:630 genetic disease ISO RGD:1312517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15886521|PMID:24465539|PMID:24728327|PMID:25741868|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:31692161|PMID:32008151|PMID:32487094|PMID:32659497|PMID:32756499|PMID:34117267 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1312517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036326 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1312517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19956886 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20372803 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9002801 Recurrence ISO RGD:1312517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062074 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9004207 Testicular Neoplasms ISO RGD:1312517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19956886 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1560340 D RGD:9068941 20200609 RGD PMID:22228707|REF_RGD_ID:7296926 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1312517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216194|PMID:24036326 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18767034|PMID:23407396|PMID:24004570|PMID:24465539|PMID:24728327|PMID:25741868|PMID:28492532 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9007964 Arsenic Poisoning ISO RGD:1312517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12569548 12203329 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1312517 D RGD:9068941 20221006 RGD mRNA:increased expression:colorectum (human) PMID:16951227|REF_RGD_ID:155260343 12203347 CPT1B carnitine palmitoyltransferase 1B gene DOID:0060041 autism spectrum disorder ISO RGD:619557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12203347 CPT1B carnitine palmitoyltransferase 1B gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:619557 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12203347 CPT1B carnitine palmitoyltransferase 1B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:619557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12203347 CPT1B carnitine palmitoyltransferase 1B gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:619557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12203347 CPT1B carnitine palmitoyltransferase 1B gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:619557 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 12203347 CPT1B carnitine palmitoyltransferase 1B gene DOID:10581 metachromatic leukodystrophy ISO RGD:619557 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12203347 CPT1B carnitine palmitoyltransferase 1B gene DOID:1059 intellectual disability ISO RGD:619557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12203347 CPT1B carnitine palmitoyltransferase 1B gene DOID:630 genetic disease ISO RGD:619557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12203347 CPT1B carnitine palmitoyltransferase 1B gene DOID:8986 narcolepsy ISO RGD:619557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18820697 12203347 CPT1B carnitine palmitoyltransferase 1B gene DOID:9002189 High Myopia ISO RGD:619557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12203347 CPT1B carnitine palmitoyltransferase 1B gene DOID:9003936 Cardiomegaly ISO RGD:619557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24330405 12203347 CPT1B carnitine palmitoyltransferase 1B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563825 12203347 CPT1B carnitine palmitoyltransferase 1B gene DOID:9007102 Myocardial Ischemia ISO RGD:619557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12203347 CPT1B carnitine palmitoyltransferase 1B gene DOID:9007188 Liver Neoplasms ISO RGD:619557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 12203379 RNF149 ring finger protein 149 gene DOID:630 genetic disease ISO RGD:1318240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12203392 ZMYM4 zinc finger MYM-type containing 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12203392 ZMYM4 zinc finger MYM-type containing 4 gene DOID:630 genetic disease ISO RGD:1319940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12203453 RETSAT retinol saturase gene DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 ISO RGD:731874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19139408 12203453 RETSAT retinol saturase gene DOID:630 genetic disease ISO RGD:731874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12203469 BCLAF1 BCL2 associated transcription factor 1 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1320189 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12203469 BCLAF1 BCL2 associated transcription factor 1 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1320189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 12203469 BCLAF1 BCL2 associated transcription factor 1 gene DOID:0111955 immunodeficiency 27A ISO RGD:1320189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 12203469 BCLAF1 BCL2 associated transcription factor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:1320189 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 12203469 BCLAF1 BCL2 associated transcription factor 1 gene DOID:630 genetic disease ISO RGD:1320189 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266 12203469 BCLAF1 BCL2 associated transcription factor 1 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1320189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 12203469 BCLAF1 BCL2 associated transcription factor 1 gene DOID:9007098 Pulmonary Atresia ISO RGD:1320189 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 12203490 LRIG1 leucine rich repeats and immunoglobulin like domains 1 gene DOID:0060224 atrial fibrillation ISO RGD:1315602 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12203490 LRIG1 leucine rich repeats and immunoglobulin like domains 1 gene DOID:630 genetic disease ISO RGD:1315602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12203515 TMEM108 transmembrane protein 108 gene DOID:12712 nephronophthisis ISO RGD:1604309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:18371931|PMID:23559409|PMID:28492532 12203515 TMEM108 transmembrane protein 108 gene DOID:630 genetic disease ISO RGD:1604309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12203515 TMEM108 transmembrane protein 108 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12203515 TMEM108 transmembrane protein 108 gene DOID:9270 alkaptonuria ISO RGD:1604309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12203558 WNT1 Wnt family member 1 gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:1344355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:25741868|PMID:28492532|PMID:30715774|PMID:32770541 12203558 WNT1 Wnt family member 1 gene DOID:0110347 osteogenesis imperfecta type 15 ISO RGD:1344355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 15 PMID:22653731|PMID:23434763|PMID:23499309|PMID:23499310|PMID:23656646|PMID:25741868|PMID:28492532|PMID:28528193|PMID:29481978|PMID:29499418|PMID:29620724|PMID:30896082|PMID:30913006 12203558 WNT1 Wnt family member 1 gene DOID:0110347 osteogenesis imperfecta type 15 susceptibility ISO RGD:1344355 D RGD:7240710 20230505 OMIM 12203558 WNT1 Wnt family member 1 gene DOID:10126 keratoconus ISO RGD:1344355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus PMID:23434763 12203558 WNT1 Wnt family member 1 gene DOID:11476 osteoporosis ISO RGD:1344355 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Osteoporosis PMID:23499309|PMID:23656646|PMID:25741868 12203558 WNT1 Wnt family member 1 gene DOID:11476 osteoporosis susceptibility ISO RGD:1344355 D RGD:7240710 20230505 OMIM 12203558 WNT1 Wnt family member 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:1344355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:23434763|PMID:23499309|PMID:23499310|PMID:25741868|PMID:27450065|PMID:28492532|PMID:28725987|PMID:29499418|PMID:30715774|PMID:30896082|PMID:30913006|PMID:33093841|PMID:33195954|PMID:34335676|PMID:36056132 12203558 WNT1 Wnt family member 1 gene DOID:1612 breast cancer ISO RGD:11491 D RGD:9068941 20220825 MouseDO OMIM:114480 12203558 WNT1 Wnt family member 1 gene DOID:1936 atherosclerosis ameliorates ISO RGD:11491 D RGD:9068941 20230330 RGD PMID:35854140|REF_RGD_ID:242905195 12203558 WNT1 Wnt family member 1 gene DOID:630 genetic disease ISO RGD:1344355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22653731|PMID:23499309|PMID:23499310|PMID:23656646|PMID:25741868|PMID:27450065|PMID:28492532|PMID:28528193|PMID:28725987|PMID:29620724|PMID:30715774|PMID:30913006|PMID:33093841|PMID:33195954|PMID:34335676|PMID:36056132 12203558 WNT1 Wnt family member 1 gene DOID:65 connective tissue disease ISO RGD:1344355 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868 12203558 WNT1 Wnt family member 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:11491 D RGD:9068941 20200609 RGD mRNA:increased expression:tumors:insertion of MMTV into Wnt1 gene increases expression and decreases latency of tumorigenesis in WAP-TGFalpha mice PMID:10918574|REF_RGD_ID:2298804 12203558 WNT1 Wnt family member 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:11491 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:8065359|PMID:9419423|REF_RGD_ID:2298848|REF_RGD_ID:2298863 12203569 PCDH7 protocadherin 7 gene DOID:630 genetic disease ISO RGD:1346973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12203576 HAND1 heart and neural crest derivatives expressed 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:737010 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12203576 HAND1 heart and neural crest derivatives expressed 1 gene DOID:630 genetic disease ISO RGD:737010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12203576 HAND1 heart and neural crest derivatives expressed 1 gene DOID:9000046 Poisoning ISO RGD:737010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21964422 12203576 HAND1 heart and neural crest derivatives expressed 1 gene DOID:9003936 Cardiomegaly ISO RGD:621206 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart ventricle PMID:12359233|REF_RGD_ID:727442 12203576 HAND1 heart and neural crest derivatives expressed 1 gene DOID:9003936 Cardiomegaly ISO RGD:737011 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle PMID:12359233|REF_RGD_ID:727442 12203576 HAND1 heart and neural crest derivatives expressed 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737010 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12203576 HAND1 heart and neural crest derivatives expressed 1 gene DOID:9009087 Hypoplastic Left Heart Syndrome 1 ISO RGD:737010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome 1 PMID:28492532 12203576 HAND1 heart and neural crest derivatives expressed 1 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:737010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome PMID:28492532 12203586 SPEF2 sperm flagellar 2 gene DOID:0111917 spermatogenic failure 43 ISO RGD:1605340 D RGD:7240710 20200226 OMIM 12203586 SPEF2 sperm flagellar 2 gene DOID:0111917 spermatogenic failure 43 ISO RGD:1605340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 43 PMID:24033266|PMID:25741868|PMID:28492532|PMID:31048344|PMID:31151990|PMID:31278745 12203586 SPEF2 sperm flagellar 2 gene DOID:5419 schizophrenia ISO RGD:1605340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12203586 SPEF2 sperm flagellar 2 gene DOID:630 genetic disease ISO RGD:1605340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12203586 SPEF2 sperm flagellar 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12203586 SPEF2 sperm flagellar 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:31942643 12203644 MMP8 matrix metallopeptidase 8 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1351878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 12203644 MMP8 matrix metallopeptidase 8 gene DOID:0080600 COVID-19 ISO RGD:1351878 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 12203644 MMP8 matrix metallopeptidase 8 gene DOID:0111144 preterm premature rupture of the membranes ISO RGD:1351878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Preterm premature rupture of the membranes PMID:15367487 12203644 MMP8 matrix metallopeptidase 8 gene DOID:1059 intellectual disability ISO RGD:1351878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12203644 MMP8 matrix metallopeptidase 8 gene DOID:12704 ataxia telangiectasia ISO RGD:1351878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12203644 MMP8 matrix metallopeptidase 8 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1351878 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 12203644 MMP8 matrix metallopeptidase 8 gene DOID:1612 breast cancer disease_progression ISO RGD:1351878 D RGD:9068941 20200609 RGD DNA:SNP:promoter:minor (T) allele of rs11225395 associated with reduced lymph node metastasis, reduced relapse and greater disease-free survival (p=0.02) PMID:17974962|REF_RGD_ID:2298553 12203644 MMP8 matrix metallopeptidase 8 gene DOID:1612 breast cancer disease_progression ISO RGD:1351878 D RGD:9068941 20200609 RGD protein:increased expression:plasma:levels higher in patients with moderate lymph node involvement relative to controls and patients with no involvement (p=0.001) PMID:18366705|REF_RGD_ID:2298552 12203644 MMP8 matrix metallopeptidase 8 gene DOID:1909 melanoma ISO RGD:1351878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19330028 12203644 MMP8 matrix metallopeptidase 8 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1351878 D RGD:9068941 20200609 RGD PMID:14602136|REF_RGD_ID:2306084 12203644 MMP8 matrix metallopeptidase 8 gene DOID:2773 contact dermatitis ISO RGD:1351878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12203644 MMP8 matrix metallopeptidase 8 gene DOID:2871 endometrial carcinoma ISO RGD:1351878 D RGD:9068941 20200609 RGD PMID:10502722|REF_RGD_ID:2306086 12203644 MMP8 matrix metallopeptidase 8 gene DOID:2957 pulmonary tuberculosis ISO RGD:1351878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24890593 12203644 MMP8 matrix metallopeptidase 8 gene DOID:3407 carotid artery disease ISO RGD:1351878 D RGD:9068941 20200609 RGD PMID:16339461|REF_RGD_ID:1582626 12203644 MMP8 matrix metallopeptidase 8 gene DOID:6000 congestive heart failure disease_progression ISO RGD:631408 D RGD:9068941 20200609 RGD protein:increased expression:left ventricle (rat) PMID:10773235|REF_RGD_ID:1582587 12203644 MMP8 matrix metallopeptidase 8 gene DOID:630 genetic disease ISO RGD:1351878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12203644 MMP8 matrix metallopeptidase 8 gene DOID:7148 rheumatoid arthritis ISO RGD:1351878 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid, serum (human) PMID:15194590|REF_RGD_ID:7207131 12203644 MMP8 matrix metallopeptidase 8 gene DOID:7693 abdominal aortic aneurysm severity ISO RGD:1351878 D RGD:9068941 20200609 RGD PMID:16432074|REF_RGD_ID:1582641 12203644 MMP8 matrix metallopeptidase 8 gene DOID:8398 osteoarthritis ISO RGD:1351878 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid, serum (human) PMID:15194590|REF_RGD_ID:7207131 12203644 MMP8 matrix metallopeptidase 8 gene DOID:850 lung disease ISO RGD:1351878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21602193 12203644 MMP8 matrix metallopeptidase 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15057751 12203644 MMP8 matrix metallopeptidase 8 gene DOID:9001600 Wounds and Injuries ISO RGD:1351878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11172683 12203658 RAVER2 ribonucleoprotein, PTB binding 2 gene DOID:1059 intellectual disability ISO RGD:1602482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12203658 RAVER2 ribonucleoprotein, PTB binding 2 gene DOID:630 genetic disease ISO RGD:1602482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12203674 GPR173 G protein-coupled receptor 173 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12203674 GPR173 G protein-coupled receptor 173 gene DOID:12849 autistic disorder ISO RGD:1347737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12203674 GPR173 G protein-coupled receptor 173 gene DOID:630 genetic disease ISO RGD:1347737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12203685 MED31 mediator complex subunit 31 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1343042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 12203685 MED31 mediator complex subunit 31 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1343042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 12203685 MED31 mediator complex subunit 31 gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:1343042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 12203685 MED31 mediator complex subunit 31 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1343042 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12203685 MED31 mediator complex subunit 31 gene DOID:630 genetic disease ISO RGD:1343042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12203693 INTU inturned planar cell polarity protein gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1319793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:25741868|PMID:27158779|PMID:29068549 12203693 INTU inturned planar cell polarity protein gene DOID:0080289 orofaciodigital syndrome XVII ISO RGD:1319793 D RGD:7240710 20190315 OMIM 12203693 INTU inturned planar cell polarity protein gene DOID:0080289 orofaciodigital syndrome XVII ISO RGD:1319793 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVII | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XVII PMID:25741868|PMID:27158779|PMID:28492532 12203693 INTU inturned planar cell polarity protein gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1319793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:19177532|PMID:28492532 12203693 INTU inturned planar cell polarity protein gene DOID:12712 nephronophthisis ISO RGD:1319793 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:27158779|PMID:28492532 12203693 INTU inturned planar cell polarity protein gene DOID:630 genetic disease ISO RGD:1319793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12203693 INTU inturned planar cell polarity protein gene DOID:9003056 Short-Rib Thoracic Dysplasia 20 with Polydactyly ISO RGD:1319793 D RGD:7240710 20190315 OMIM 12203693 INTU inturned planar cell polarity protein gene DOID:9003056 Short-Rib Thoracic Dysplasia 20 with Polydactyly ISO RGD:1319793 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 20 with polydactyly | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7/20 with polydactyly, digenic PMID:25741868|PMID:27158779|PMID:28492532 12203693 INTU inturned planar cell polarity protein gene DOID:9003244 Mohr Syndrome ISO RGD:1319793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome II PMID:27158779 12203720 TCIM transcriptional and immune response regulator gene DOID:684 hepatocellular carcinoma ISO RGD:1346279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12203725 DLA-DOB major histocompatibility complex, class II, DO beta gene DOID:0050553 JMP syndrome ISO RGD:1346079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12203749 AKR1E2 aldo-keto reductase family 1 member E2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1320023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12203749 AKR1E2 aldo-keto reductase family 1 member E2 gene DOID:5419 schizophrenia ISO RGD:1320023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12203749 AKR1E2 aldo-keto reductase family 1 member E2 gene DOID:630 genetic disease ISO RGD:1320023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12203771 SLC25A14 solute carrier family 25 member 14 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12203771 SLC25A14 solute carrier family 25 member 14 gene DOID:12849 autistic disorder ISO RGD:736693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12203811 UTY tetratricopeptide repeat protein gene DOID:12849 autistic disorder ISO RGD:1342500 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12203817 GPR33 G protein-coupled receptor 33 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1351733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 12203817 GPR33 G protein-coupled receptor 33 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1351733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 12203817 GPR33 G protein-coupled receptor 33 gene DOID:0112088 nuclear type mitochondrial complex I deficiency 21 ISO RGD:1351733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 12203817 GPR33 G protein-coupled receptor 33 gene DOID:14330 Parkinson's disease ISO RGD:1351733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson's disease PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 12203817 GPR33 G protein-coupled receptor 33 gene DOID:630 genetic disease ISO RGD:1351733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12203817 GPR33 G protein-coupled receptor 33 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1351733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 12203817 GPR33 G protein-coupled receptor 33 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1351733 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12203836 TIGD7 tigger transposable element derived 7 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1346517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12203836 TIGD7 tigger transposable element derived 7 gene DOID:1826 epilepsy ISO RGD:1346517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12203836 TIGD7 tigger transposable element derived 7 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1346517 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12203836 TIGD7 tigger transposable element derived 7 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1346517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12203836 TIGD7 tigger transposable element derived 7 gene DOID:630 genetic disease ISO RGD:1346517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12203917 RAB8A RAB8A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1354512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12203917 RAB8A RAB8A, member RAS oncogene family gene DOID:7148 rheumatoid arthritis ISO RGD:1354512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 12203929 PKM pyruvate kinase M1/2 gene DOID:0080600 COVID-19 ISO RGD:737501 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12203929 PKM pyruvate kinase M1/2 gene DOID:11476 osteoporosis ISO RGD:737501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12203929 PKM pyruvate kinase M1/2 gene DOID:2717 Bloom syndrome ISO RGD:737501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12203929 PKM pyruvate kinase M1/2 gene DOID:305 carcinoma ISO RGD:737501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12203929 PKM pyruvate kinase M1/2 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:737501 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32078667 12203929 PKM pyruvate kinase M1/2 gene DOID:3320 Tay-Sachs disease ISO RGD:737501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 12203929 PKM pyruvate kinase M1/2 gene DOID:630 genetic disease ISO RGD:737501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12203929 PKM pyruvate kinase M1/2 gene DOID:684 hepatocellular carcinoma ISO RGD:737501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 12203929 PKM pyruvate kinase M1/2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12203929 PKM pyruvate kinase M1/2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980|PMID:15654357 12203929 PKM pyruvate kinase M1/2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12203929 PKM pyruvate kinase M1/2 gene DOID:9256 colorectal cancer ISO RGD:737501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12203949 MYCBP MYC binding protein gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1315945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12203949 MYCBP MYC binding protein gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1315945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12203958 MGST1 microsomal glutathione S-transferase 1 gene DOID:0080600 COVID-19 ISO RGD:737343 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12203958 MGST1 microsomal glutathione S-transferase 1 gene DOID:1289 neurodegenerative disease ISO RGD:737343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 12203958 MGST1 microsomal glutathione S-transferase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 12203958 MGST1 microsomal glutathione S-transferase 1 gene DOID:630 genetic disease ISO RGD:737343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12203976 ZBED4 zinc finger BED-type containing 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1314283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12203976 ZBED4 zinc finger BED-type containing 4 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1314283 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12203976 ZBED4 zinc finger BED-type containing 4 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1314283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12203976 ZBED4 zinc finger BED-type containing 4 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1314283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:28492532 12203976 ZBED4 zinc finger BED-type containing 4 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1314283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12203976 ZBED4 zinc finger BED-type containing 4 gene DOID:1059 intellectual disability ISO RGD:1314283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12203976 ZBED4 zinc finger BED-type containing 4 gene DOID:630 genetic disease ISO RGD:1314283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12203976 ZBED4 zinc finger BED-type containing 4 gene DOID:9007661 Dwarfism ISO RGD:1314283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12203987 CARD10 caspase recruitment domain family member 10 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1312685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12203987 CARD10 caspase recruitment domain family member 10 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1312685 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12203987 CARD10 caspase recruitment domain family member 10 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1312685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12203987 CARD10 caspase recruitment domain family member 10 gene DOID:1070 primary open angle glaucoma ISO RGD:1312685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:27896285 12203987 CARD10 caspase recruitment domain family member 10 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1312685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12203987 CARD10 caspase recruitment domain family member 10 gene DOID:630 genetic disease ISO RGD:1312685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12203987 CARD10 caspase recruitment domain family member 10 gene DOID:9006139 Immunodeficiency 89 and Autoimmunity ISO RGD:1312685 D RGD:7240710 20211201 OMIM 12203987 CARD10 caspase recruitment domain family member 10 gene DOID:9006139 Immunodeficiency 89 and Autoimmunity ISO RGD:1312685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 89 and autoimmunity PMID:32238915 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:0050742 nicotine dependence ISO RGD:732613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20372150|PMID:20418890 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:0050742 nicotine dependence severity ISO RGD:732613 D RGD:9068941 20211203 RGD associated with smoking; DNA:SNP::rs1051730(human) PMID:29993116|REF_RGD_ID:150526806 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:0050742 nicotine dependence susceptibility ISO RGD:1343424 D RGD:9068941 20220304 RGD DNA:SNP:exon: (rs1051730) (human) PMID:21747048|REF_RGD_ID:151660346 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:0050742 nicotine dependence susceptibility ISO RGD:732613 D RGD:9068941 20211203 RGD DNA:SNP: :rs578776(human) PMID:19706762|REF_RGD_ID:150524362 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:10534 stomach cancer ISO RGD:732613 D RGD:9068941 20220128 RGD DNA:hypermethylation:CpG: PMID:21831520|REF_RGD_ID:151347539 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:11832 visual epilepsy ISO RGD:2345 D RGD:9068941 20200609 RGD PMID:15469883|REF_RGD_ID:1599607 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1324 lung cancer ISO RGD:732613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung cancer susceptibility 2 PMID:18385676|PMID:18385738|PMID:18385739|PMID:28492532 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1324 lung cancer onset ISO RGD:732613 D RGD:9068941 20220225 RGD DNA:SNP:exon 2: rs8040868(T>C) (human) PMID:29416783|REF_RGD_ID:151361155 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:732613 D RGD:7240710 20230517 OMIM 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1574 alcohol use disorder ISO RGD:732613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18414406 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1596 depressive disorder ISO RGD:2345 D RGD:9068941 20220128 RGD mRNA:decreased expression:habenula: PMID:28420875|REF_RGD_ID:151347550 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1749 squamous cell carcinoma ISO RGD:732613 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:2717 Bloom syndrome ISO RGD:732613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:732613 D RGD:9068941 20211203 RGD associated with smoking; DNA:SNP: :rs1051730(human) PMID:26751916|REF_RGD_ID:150527850 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:732613 D RGD:9068941 20211203 RGD associated with smoking; DNA:SNP::rs1051730(human) PMID:29993116|REF_RGD_ID:150526806 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:732613 D RGD:9068941 20220128 RGD DNA:SNP: :rs12910984(human) PMID:23207642|REF_RGD_ID:151347538 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:732613 D RGD:9068941 20220128 RGD DNA:SNP: :rs6495309(human) PMID:23056235|REF_RGD_ID:151347536 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:732613 D RGD:9068941 20220128 RGD associated with smoking; DNA:SNP: :rs1051730(human) PMID:22441734|REF_RGD_ID:151347455 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3905 lung carcinoma susceptibility ISO RGD:732613 D RGD:9068941 20220128 RGD DNA:SNP: :rs1051730(human) PMID:24337855|REF_RGD_ID:151347533 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732613 D RGD:9068941 20220128 RGD DNA:SNP: :rs6495309(human) PMID:22722785|REF_RGD_ID:151347532 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1343424 D RGD:9068941 20220304 RGD DNA:SNP:exon: (rs1051730) (human) PMID:21747048|REF_RGD_ID:151660346 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3910 lung adenocarcinoma ISO RGD:732613 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:732613 D RGD:9068941 20211203 RGD associated with smoking; DNA:SNP: :rs1051730(human) PMID:20554942|REF_RGD_ID:150527848 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:732613 D RGD:9068941 20220128 RGD DNA:SNP: :rs8042374(human) PMID:24686516|REF_RGD_ID:151347530 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:5409 lung small cell carcinoma ISO RGD:732613 D RGD:9068941 20211203 RGD mRNA:increased expression:lung PMID:20124469|REF_RGD_ID:150527851 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:732613 D RGD:9068941 20220128 RGD DNA:SNP:cds:rs8040868(human) PMID:22280835|REF_RGD_ID:151347453 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:630 genetic disease ISO RGD:732613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:9001213 BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT ISO RGD:732613 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHRNA3-related condition | ClinVar Annotator: match by term: Urinary bladder, atony of PMID:25741868|PMID:28492532|PMID:31708116 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:9001213 BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT susceptibility ISO RGD:732613 D RGD:7240710 20230517 OMIM 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:9001310 Tobacco Use Disorder ISO RGD:732613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18414406|PMID:29666375 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:9003420 Carbon Monoxide Poisoning ISO RGD:2345 D RGD:9068941 20220128 RGD PMID:24704181|REF_RGD_ID:151347543 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:9004283 Transplant Rejection ISO RGD:2345 D RGD:9068941 20220128 RGD PMID:25121092|REF_RGD_ID:151347544 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:9005172 Lung Neoplasms ISO RGD:732613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18385738 12204015 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:9256 colorectal cancer ISO RGD:732613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12204028 SLC5A2 solute carrier family 5 member 2 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:731434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12204028 SLC5A2 solute carrier family 5 member 2 gene DOID:10283 prostate cancer ISO RGD:731434 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:25741868 12204028 SLC5A2 solute carrier family 5 member 2 gene DOID:10763 hypertension ISO RGD:620217 D RGD:9068941 20200609 RGD PMID:14506074|REF_RGD_ID:1599050 12204028 SLC5A2 solute carrier family 5 member 2 gene DOID:630 genetic disease ISO RGD:731434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12204028 SLC5A2 solute carrier family 5 member 2 gene DOID:9432 renal glycosuria ISO RGD:731434 D RGD:7240710 20180130 OMIM 12204028 SLC5A2 solute carrier family 5 member 2 gene DOID:9432 renal glycosuria ISO RGD:731434 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial renal glucosuria PMID:12436245|PMID:14569097|PMID:14614622|PMID:15110322|PMID:18622023|PMID:21165652|PMID:23265383|PMID:25741868|PMID:26376857|PMID:28492532 12204053 GABPB1 GA binding protein transcription factor subunit beta 1 gene DOID:2717 Bloom syndrome ISO RGD:1321019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12204053 GABPB1 GA binding protein transcription factor subunit beta 1 gene DOID:630 genetic disease ISO RGD:1321019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204053 GABPB1 GA binding protein transcription factor subunit beta 1 gene DOID:9256 colorectal cancer ISO RGD:1321019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12204086 KDSR 3-ketodihydrosphingosine reductase gene DOID:0050873 follicular lymphoma ISO RGD:1317161 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25526675 12204086 KDSR 3-ketodihydrosphingosine reductase gene DOID:0050873 follicular lymphoma ISO RGD:1317161 D RGD:9068941 20200609 RGD PMID:8417785|REF_RGD_ID:1598985 12204086 KDSR 3-ketodihydrosphingosine reductase gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1317161 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12204086 KDSR 3-ketodihydrosphingosine reductase gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1317161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 12204086 KDSR 3-ketodihydrosphingosine reductase gene DOID:0080250 erythrokeratodermia variabilis et progressiva 4 ISO RGD:1317161 D RGD:7240710 20190315 OMIM 12204086 KDSR 3-ketodihydrosphingosine reductase gene DOID:0080250 erythrokeratodermia variabilis et progressiva 4 ISO RGD:1317161 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 4 PMID:25741868|PMID:28492532|PMID:28575652 12204086 KDSR 3-ketodihydrosphingosine reductase gene DOID:630 genetic disease ISO RGD:1317161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204102 SPATA45 spermatogenesis associated 45 gene DOID:1540 parathyroid carcinoma ISO RGD:1606701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12204102 SPATA45 spermatogenesis associated 45 gene DOID:630 genetic disease ISO RGD:1606701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204102 SPATA45 spermatogenesis associated 45 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12204115 CARD19 caspase recruitment domain family member 19 gene DOID:630 genetic disease ISO RGD:1314456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204140 MCHR2 melanin concentrating hormone receptor 2 gene DOID:630 genetic disease ISO RGD:1347761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204155 SPTBN1 spectrin beta, non-erythrocytic 1 gene DOID:0060040 pervasive developmental disorder ISO RGD:1351608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pervasive developmental disorder PMID:25741868 12204155 SPTBN1 spectrin beta, non-erythrocytic 1 gene DOID:0070052 autosomal dominant intellectual developmental disorder 22 ISO RGD:1351608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 22 PMID:25741868 12204155 SPTBN1 spectrin beta, non-erythrocytic 1 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1551425 D RGD:9068941 20220825 MouseDO OMIM:130650 12204155 SPTBN1 spectrin beta, non-erythrocytic 1 gene DOID:630 genetic disease ISO RGD:1351608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204155 SPTBN1 spectrin beta, non-erythrocytic 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1551425 D RGD:9068941 20200609 RGD PMID:16650383|REF_RGD_ID:1581318 12204155 SPTBN1 spectrin beta, non-erythrocytic 1 gene DOID:9000526 DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES ISO RGD:1351608 D RGD:7240710 20211020 OMIM 12204155 SPTBN1 spectrin beta, non-erythrocytic 1 gene DOID:9000526 DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES ISO RGD:1351608 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities PMID:25741868|PMID:33847457|PMID:34211179 12204155 SPTBN1 spectrin beta, non-erythrocytic 1 gene DOID:9002589 Bone Fractures ISO RGD:1351608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22504420 12204155 SPTBN1 spectrin beta, non-erythrocytic 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351608 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33847457|PMID:34211179 12204155 SPTBN1 spectrin beta, non-erythrocytic 1 gene DOID:9004657 Weight Gain ISO RGD:1351608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12204155 SPTBN1 spectrin beta, non-erythrocytic 1 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1351608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:25741868 12204155 SPTBN1 spectrin beta, non-erythrocytic 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:1551425 D RGD:9068941 20200609 RGD PMID:12543979|REF_RGD_ID:1581319 12204202 GRIN3A glutamate ionotropic receptor NMDA type subunit 3A gene DOID:1059 intellectual disability ISO RGD:733376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12204202 GRIN3A glutamate ionotropic receptor NMDA type subunit 3A gene DOID:1875 impotence ISO RGD:733376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19295509 12204202 GRIN3A glutamate ionotropic receptor NMDA type subunit 3A gene DOID:2661 myoepithelioma ISO RGD:733376 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12204202 GRIN3A glutamate ionotropic receptor NMDA type subunit 3A gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:733376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 12204202 GRIN3A glutamate ionotropic receptor NMDA type subunit 3A gene DOID:630 genetic disease ISO RGD:733376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204202 GRIN3A glutamate ionotropic receptor NMDA type subunit 3A gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:733376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532 12204222 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348339 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12204222 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:0060290 blepharophimosis-intellectual disability syndrome, SBBYS type ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome PMID:32694869 12204222 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1348339 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12204222 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 PMID:22366787|PMID:22426308|PMID:22426309|PMID:25724810|PMID:25741868 12204222 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 12204222 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:1348339 D RGD:9068941 20200609 RGD PMID:17075831|REF_RGD_ID:2302527 12204222 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:10348 blepharophimosis ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:25741868 12204222 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:1059 intellectual disability ISO RGD:1348339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual deficiency PMID:22366787|PMID:25533962|PMID:25741868|PMID:27399259|PMID:27479843|PMID:28191890|PMID:28424519|PMID:28628100|PMID:32694869 12204222 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:10907 microcephaly ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12204222 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:1790 malignant mesothelioma ISO RGD:1348339 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12204222 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:1925 Coffin-Siris syndrome ISO RGD:1348339 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability PMID:18414213|PMID:28512736 12204222 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:630 genetic disease ISO RGD:1348339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16738128|PMID:17576681|PMID:18414213|PMID:25169058|PMID:25169753|PMID:25533962|PMID:25741868|PMID:27399259|PMID:27479843|PMID:28191890|PMID:28424519|PMID:28492532|PMID:28512736|PMID:32694869|PMID:9536098 12204222 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1348339 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 12204222 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9001900 Arnold-Chiari Malformation ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arnold-Chiari malformation 12204222 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9003531 Nicolaides Baraitser Syndrome ISO RGD:1348339 D RGD:7240710 20180130 OMIM 12204222 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9003531 Nicolaides Baraitser Syndrome ISO RGD:1348339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome | ClinVar Annotator: match by term: SMARCA2-related BAFopathy PMID:17576681|PMID:18414213|PMID:19606471|PMID:22366787|PMID:22426308|PMID:22822383|PMID:23752187|PMID:23929686|PMID:25169058|PMID:25169753|PMID:25326635|PMID:25326637|PMID:25741868|PMID:27099726|PMID:27399259|PMID:27479843|PMID:27665729|PMID:28333917|PMID:28424519|PMID:28492532|PMID:28824374|PMID:30459321|PMID:31785789|PMID:32694869|PMID:9536098 12204222 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9003879 Vein of Galen Aneurysm ISO RGD:1348339 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galen vein aneurysm PMID:30578106 12204222 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 12204222 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348339 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12204222 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9004507 Hirsutism ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirsutism PMID:22366787|PMID:25741868 12204222 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9008582 Developmental Disease ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12204222 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9008618 BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ISO RGD:1348339 D RGD:7240710 20230215 OMIM 12204222 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9008618 BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ISO RGD:1348339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Blepharophimosis-impaired intellectual development syndrome PMID:25533962|PMID:25741868|PMID:28191890|PMID:28492532|PMID:28628100|PMID:32694869 12204277 LOC477562 proline dehydrogenase 1, mitochondrial gene DOID:0060041 autism spectrum disorder ISO RGD:1343717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12204277 LOC477562 proline dehydrogenase 1, mitochondrial gene DOID:0070080 schizophrenia 4 ISO RGD:1343717 D RGD:7240710 20230517 OMIM 12204277 LOC477562 proline dehydrogenase 1, mitochondrial gene DOID:0070080 schizophrenia 4 ISO RGD:1343717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schizophrenia 4 PMID:11510941|PMID:11891283|PMID:12217952|PMID:15449943|PMID:15494707|PMID:15662599|PMID:17412540|PMID:20524212|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28708303 12204277 LOC477562 proline dehydrogenase 1, mitochondrial gene DOID:0080542 hyperprolinemia type 1 ISO RGD:1343717 D RGD:7240710 20230517 OMIM 12204277 LOC477562 proline dehydrogenase 1, mitochondrial gene DOID:0080542 hyperprolinemia type 1 ISO RGD:1343717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proline dehydrogenase deficiency PMID:11510941|PMID:11891283|PMID:12217952|PMID:12525555|PMID:15449943|PMID:15494707|PMID:15662599|PMID:16199547|PMID:17412540|PMID:17576681|PMID:19736351|PMID:20524212|PMID:24033266|PMID:25312060|PMID:25741868|PMID:26978485|PMID:28492532|PMID:28708303|PMID:9536098 12204277 LOC477562 proline dehydrogenase 1, mitochondrial gene DOID:0111996 immunodeficiency 51 ISO RGD:1343717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12204277 LOC477562 proline dehydrogenase 1, mitochondrial gene DOID:1059 intellectual disability ISO RGD:1343717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12204277 LOC477562 proline dehydrogenase 1, mitochondrial gene DOID:11198 DiGeorge syndrome ISO RGD:1343717 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12204277 LOC477562 proline dehydrogenase 1, mitochondrial gene DOID:11372 megacolon ISO RGD:1343717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12204277 LOC477562 proline dehydrogenase 1, mitochondrial gene DOID:12583 velocardiofacial syndrome ISO RGD:1343717 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome 12204277 LOC477562 proline dehydrogenase 1, mitochondrial gene DOID:12849 autistic disorder ISO RGD:1343717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12204277 LOC477562 proline dehydrogenase 1, mitochondrial gene DOID:1826 epilepsy ISO RGD:1343717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12204277 LOC477562 proline dehydrogenase 1, mitochondrial gene DOID:5419 schizophrenia ISO RGD:1343717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12204277 LOC477562 proline dehydrogenase 1, mitochondrial gene DOID:612 primary immunodeficiency disease ISO RGD:1343717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12204277 LOC477562 proline dehydrogenase 1, mitochondrial gene DOID:630 genetic disease ISO RGD:1343717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11510941|PMID:12217952|PMID:15449943|PMID:15494707|PMID:15662599|PMID:17412540|PMID:20524212|PMID:25741868|PMID:28492532 12204277 LOC477562 proline dehydrogenase 1, mitochondrial gene DOID:863 nervous system disease ISO RGD:1343717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17412540 12204277 LOC477562 proline dehydrogenase 1, mitochondrial gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12204277 LOC477562 proline dehydrogenase 1, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12204277 LOC477562 proline dehydrogenase 1, mitochondrial gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1343717 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12204277 LOC477562 proline dehydrogenase 1, mitochondrial gene DOID:9252 amino acid metabolic disorder ISO RGD:1343717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17412540 12204277 LOC477562 proline dehydrogenase 1, mitochondrial gene DOID:9252 amino acid metabolic disorder ISO RGD:1343717 D RGD:9068941 20200609 RGD PMID:12217952|REF_RGD_ID:1599206 12204302 SELENOP selenoprotein P gene DOID:0050860 colorectal adenoma ISO RGD:737591 D RGD:9068941 20220407 RGD mRNA:decreased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 12204302 SELENOP selenoprotein P gene DOID:0080199 colorectal carcinoma ISO RGD:737591 D RGD:9068941 20220407 RGD mRNA:decreased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 12204302 SELENOP selenoprotein P gene DOID:12336 male infertility ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17961124 12204302 SELENOP selenoprotein P gene DOID:1289 neurodegenerative disease ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 12204302 SELENOP selenoprotein P gene DOID:289 endometriosis ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12204302 SELENOP selenoprotein P gene DOID:305 carcinoma ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 12204302 SELENOP selenoprotein P gene DOID:657 adenoma ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18483336 12204302 SELENOP selenoprotein P gene DOID:863 nervous system disease ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14704310|PMID:17961124 12204302 SELENOP selenoprotein P gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 12204302 SELENOP selenoprotein P gene DOID:9001191 Cadmium Poisoning ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20643113 12204302 SELENOP selenoprotein P gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12204302 SELENOP selenoprotein P gene DOID:9002304 Prostatic Neoplasms ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12235003 12204302 SELENOP selenoprotein P gene DOID:9002955 Nerve Degeneration ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18172410 12204302 SELENOP selenoprotein P gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12204302 SELENOP selenoprotein P gene DOID:9005172 Lung Neoplasms ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19058871 12204302 SELENOP selenoprotein P gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 12204302 SELENOP selenoprotein P gene DOID:9007692 Insulin Resistance ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14714311 12204302 SELENOP selenoprotein P gene DOID:9008443 Colorectal Neoplasms ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18483336 12204311 CDC26 cell division cycle 26 gene DOID:630 genetic disease ISO RGD:1322746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204319 GCM1 glial cells missing transcription factor 1 gene DOID:630 genetic disease ISO RGD:1348704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204336 GHRHR growth hormone releasing hormone receptor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:734452 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12204336 GHRHR growth hormone releasing hormone receptor gene DOID:0060870 isolated growth hormone deficiency ISO RGD:734452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated congenital growth hormone deficiency 12204336 GHRHR growth hormone releasing hormone receptor gene DOID:0060874 isolated growth hormone deficiency type IB ISO RGD:734452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DWARFISM OF SINDH | ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB PMID:10084571|PMID:10566659|PMID:10944436|PMID:10946881|PMID:11232012|PMID:11298081|PMID:11443201|PMID:11502843|PMID:11875102|PMID:12163232|PMID:12181638|PMID:12414875|PMID:12444890|PMID:12788864|PMID:12794696|PMID:16199547|PMID:16284391|PMID:16355809|PMID:16522693|PMID:17356054|PMID:17911170|PMID:18297129|PMID:18785993|PMID:19622623|PMID:21044116|PMID:22489751|PMID:23052699|PMID:25153028|PMID:25541890|PMID:25741868|PMID:28492532|PMID:31231873|PMID:8528260|PMID:9467553|PMID:9814493 12204336 GHRHR growth hormone releasing hormone receptor gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:734452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 12204336 GHRHR growth hormone releasing hormone receptor gene DOID:1923 disorder of sexual development ISO RGD:734452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 12204336 GHRHR growth hormone releasing hormone receptor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12204336 GHRHR growth hormone releasing hormone receptor gene DOID:535 sleep disorder ISO RGD:2688 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus (rat) PMID:12161265|REF_RGD_ID:728477 12204336 GHRHR growth hormone releasing hormone receptor gene DOID:630 genetic disease ISO RGD:734452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12204336 GHRHR growth hormone releasing hormone receptor gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:10645 D RGD:9068941 20200609 RGD DNA:transition:cds:p.D60G (mouse) PMID:15870705|REF_RGD_ID:2301422 12204336 GHRHR growth hormone releasing hormone receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2688 D RGD:9068941 20200609 RGD PMID:18285528|REF_RGD_ID:10401258 12204336 GHRHR growth hormone releasing hormone receptor gene DOID:9007827 Upper Airway Obstruction ISO RGD:2688 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:hypothalamus PMID:21406516|REF_RGD_ID:5687169 12204336 GHRHR growth hormone releasing hormone receptor gene DOID:9008214 Genu Valgum ISO RGD:734452 D RGD:9068941 20200609 RGD DNA:mutation:intron:c.57+1G>A (human) PMID:24057284|REF_RGD_ID:10401244 12204351 DOCK4 dedicator of cytokinesis 4 gene DOID:12849 autistic disorder ISO RGD:1350295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12204351 DOCK4 dedicator of cytokinesis 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12204351 DOCK4 dedicator of cytokinesis 4 gene DOID:5419 schizophrenia ISO RGD:1350295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12204351 DOCK4 dedicator of cytokinesis 4 gene DOID:630 genetic disease ISO RGD:1350295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204351 DOCK4 dedicator of cytokinesis 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12204417 NOM1 nucleolar protein with MIF4G domain 1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1345070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22474449 12204417 NOM1 nucleolar protein with MIF4G domain 1 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1345070 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:22354285|PMID:22683912|PMID:23370340|PMID:24095820|PMID:28284480|PMID:28492532|PMID:28588853|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32677110 12204417 NOM1 nucleolar protein with MIF4G domain 1 gene DOID:12849 autistic disorder ISO RGD:1345070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12204417 NOM1 nucleolar protein with MIF4G domain 1 gene DOID:630 genetic disease ISO RGD:1345070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204431 FSCN2 fascin actin-bundling protein 2, retinal gene DOID:0110406 retinitis pigmentosa 30 ISO RGD:1319003 D RGD:7240710 20180130 OMIM 12204431 FSCN2 fascin actin-bundling protein 2, retinal gene DOID:0110406 retinitis pigmentosa 30 ISO RGD:1319003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 30 PMID:11527955|PMID:14609921|PMID:15994872|PMID:16280978|PMID:16799052|PMID:17251446|PMID:17576681|PMID:18450588|PMID:25741868|PMID:28492532|PMID:9536098 12204431 FSCN2 fascin actin-bundling protein 2, retinal gene DOID:10584 retinitis pigmentosa ISO RGD:1319003 D RGD:9068941 20200609 RGD PMID:11527955|REF_RGD_ID:1598962 12204431 FSCN2 fascin actin-bundling protein 2, retinal gene DOID:14791 Leber congenital amaurosis ISO RGD:1319003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:11527955|PMID:14609921|PMID:15994872|PMID:16280978|PMID:16799052|PMID:17251446|PMID:18450588|PMID:28492532 12204431 FSCN2 fascin actin-bundling protein 2, retinal gene DOID:2742 auditory system disease ISO RGD:1319004 D RGD:9068941 20220825 MouseDO 12204431 FSCN2 fascin actin-bundling protein 2, retinal gene DOID:4448 macular degeneration ISO RGD:1319003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:11527955|PMID:14609921|PMID:15994872|PMID:16280978|PMID:16799052|PMID:17251446|PMID:18450588|PMID:28492532 12204431 FSCN2 fascin actin-bundling protein 2, retinal gene DOID:630 genetic disease ISO RGD:1319003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12204431 FSCN2 fascin actin-bundling protein 2, retinal gene DOID:8466 retinal degeneration ISO RGD:1319004 D RGD:9068941 20220825 MouseDO 12204443 LGALS12 galectin 12 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1315798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12204443 LGALS12 galectin 12 gene DOID:1059 intellectual disability ISO RGD:1315798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12204443 LGALS12 galectin 12 gene DOID:630 genetic disease ISO RGD:1315798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204471 PTPN6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0060041 autism spectrum disorder ISO RGD:734188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12204471 PTPN6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0060496 respiratory allergy ISO RGD:734188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18441283 12204471 PTPN6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:734188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12204471 PTPN6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:734188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12204471 PTPN6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:734188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12204471 PTPN6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:734188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12204471 PTPN6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0111621 Temtamy syndrome ISO RGD:734188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12204471 PTPN6 protein tyrosine phosphatase non-receptor type 6 gene DOID:11168 anogenital venereal wart ISO RGD:734188 D RGD:9068941 20201001 RGD protein:increased expression:foreskin PMID:18543080|REF_RGD_ID:39128248 12204471 PTPN6 protein tyrosine phosphatase non-receptor type 6 gene DOID:182 calcinosis ISO RGD:734188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12204471 PTPN6 protein tyrosine phosphatase non-receptor type 6 gene DOID:4079 heart valve disease ISO RGD:734188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12204471 PTPN6 protein tyrosine phosphatase non-receptor type 6 gene DOID:4362 cervical cancer ISO RGD:734188 D RGD:9068941 20201001 RGD protein:increased expression:foreskin PMID:18543080|REF_RGD_ID:39128248 12204471 PTPN6 protein tyrosine phosphatase non-receptor type 6 gene DOID:630 genetic disease ISO RGD:734188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204471 PTPN6 protein tyrosine phosphatase non-receptor type 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12204471 PTPN6 protein tyrosine phosphatase non-receptor type 6 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:734188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12204491 PURA purine rich element binding protein A gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1318376 D RGD:7240710 20180130 OMIM 12204491 PURA purine rich element binding protein A gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1318376 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES | ClinVar Annotator: match by term: PURA Syndrome | ClinVar Annotator: match by term: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation PMID:12818205|PMID:19846792|PMID:23950017|PMID:24033266|PMID:25342064|PMID:25439098|PMID:25741868|PMID:25741869|PMID:26744780|PMID:27148565|PMID:28448108|PMID:28492532|PMID:28600779|PMID:29097605|PMID:29150892|PMID:29619234|PMID:32089526|PMID:32238909|PMID:32337850|PMID:32581362|PMID:32860008|PMID:34008892|PMID:9461080 12204491 PURA purine rich element binding protein A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318376 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12204491 PURA purine rich element binding protein A gene DOID:1059 intellectual disability ISO RGD:1318376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:24033266|PMID:25439098|PMID:25741868|PMID:28448108|PMID:28492532|PMID:32581362|PMID:32860008|PMID:34008892 12204491 PURA purine rich element binding protein A gene DOID:1826 epilepsy ISO RGD:1318376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25439098|PMID:25741868|PMID:28448108|PMID:28492532|PMID:32860008|PMID:34008892 12204491 PURA purine rich element binding protein A gene DOID:543 dystonia ISO RGD:1318376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb dystonia PMID:25741868 12204491 PURA purine rich element binding protein A gene DOID:630 genetic disease ISO RGD:1318376 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12818205|PMID:19846792|PMID:22614836|PMID:25741868|PMID:26744780|PMID:27148565|PMID:28448108|PMID:28492532|PMID:29097605|PMID:29150892|PMID:29307761|PMID:9461080 12204491 PURA purine rich element binding protein A gene DOID:9001793 Generalized Epilepsy ISO RGD:1318376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:32581362 12204491 PURA purine rich element binding protein A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12204491 PURA purine rich element binding protein A gene DOID:9004992 Apnea ISO RGD:1318376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Apnea PMID:25741868 12204491 PURA purine rich element binding protein A gene DOID:9005603 Muscle Hypotonia ISO RGD:1318376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia PMID:25439098|PMID:25741868|PMID:28448108|PMID:28492532|PMID:32860008|PMID:34008892 12204491 PURA purine rich element binding protein A gene DOID:9006534 Nervous System Malformations ISO RGD:1318376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12204491 PURA purine rich element binding protein A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318376 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12204491 PURA purine rich element binding protein A gene DOID:9008086 Developmental Disabilities ISO RGD:1318376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25439098|PMID:25741868|PMID:28448108|PMID:28492532|PMID:32860008|PMID:34008892 12204502 SPTBN5 spectrin beta, non-erythrocytic 5 gene DOID:2717 Bloom syndrome ISO RGD:1322297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12204502 SPTBN5 spectrin beta, non-erythrocytic 5 gene DOID:630 genetic disease ISO RGD:1322297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204502 SPTBN5 spectrin beta, non-erythrocytic 5 gene DOID:9256 colorectal cancer ISO RGD:1322297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12204573 EDC3 enhancer of mRNA decapping 3 gene DOID:0081213 autosomal recessive intellectual developmental disorder 50 ISO RGD:1604794 D RGD:7240710 20180130 OMIM 12204573 EDC3 enhancer of mRNA decapping 3 gene DOID:0081213 autosomal recessive intellectual developmental disorder 50 ISO RGD:1604794 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 50 PMID:25701870|PMID:25741868 12204573 EDC3 enhancer of mRNA decapping 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12204573 EDC3 enhancer of mRNA decapping 3 gene DOID:2717 Bloom syndrome ISO RGD:1604794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12204573 EDC3 enhancer of mRNA decapping 3 gene DOID:5419 schizophrenia ISO RGD:1604794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12204573 EDC3 enhancer of mRNA decapping 3 gene DOID:630 genetic disease ISO RGD:1604794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12204573 EDC3 enhancer of mRNA decapping 3 gene DOID:9256 colorectal cancer ISO RGD:1604794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12204595 KRT16 keratin 16 gene DOID:0111709 focal nonepidermolytic palmoplantar keratoderma 1 IAGP D RGD:12801476 20210603 OMIA Palmoplantar keratoderma, nonepidermolytic, focal 1 PMID:25521457 12204607 IER5L immediate early response 5 like gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1349464 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12204607 IER5L immediate early response 5 like gene DOID:630 genetic disease ISO RGD:1349464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204616 FAM111A FAM111 trypsin like peptidase A gene DOID:0080723 Kenny-Caffey syndrome type 2 ISO RGD:1606517 D RGD:7240710 20180130 OMIM 12204616 FAM111A FAM111 trypsin like peptidase A gene DOID:0080723 Kenny-Caffey syndrome type 2 ISO RGD:1606517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dwarfism, cortical thickening of tubular bones and transient hypocalcemia | ClinVar Annotator: match by term: Kenny-Caffey syndrome type 2 PMID:23684011|PMID:23996431|PMID:24635597|PMID:24970356|PMID:25741868|PMID:28492532|PMID:29073591|PMID:32996714 12204616 FAM111A FAM111 trypsin like peptidase A gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12204616 FAM111A FAM111 trypsin like peptidase A gene DOID:1059 intellectual disability ISO RGD:1606517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12204616 FAM111A FAM111 trypsin like peptidase A gene DOID:10907 microcephaly ISO RGD:1606517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12204616 FAM111A FAM111 trypsin like peptidase A gene DOID:630 genetic disease ISO RGD:1606517 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23684011|PMID:23996431|PMID:24635597|PMID:24970356|PMID:25741868|PMID:28492532|PMID:29073591|PMID:32996714 12204616 FAM111A FAM111 trypsin like peptidase A gene DOID:9007661 Dwarfism ISO RGD:1606517 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12204616 FAM111A FAM111 trypsin like peptidase A gene DOID:9008032 Gracile Bone Dysplasia ISO RGD:1606517 D RGD:7240710 20180130 OMIM 12204616 FAM111A FAM111 trypsin like peptidase A gene DOID:9008032 Gracile Bone Dysplasia ISO RGD:1606517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteocraniostenosis PMID:23684011|PMID:23996431|PMID:24635597|PMID:24970356|PMID:25741868|PMID:28492532|PMID:29073591|PMID:32996714 12204623 TMEM134 transmembrane protein 134 gene DOID:1059 intellectual disability ISO RGD:1604784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12204623 TMEM134 transmembrane protein 134 gene DOID:630 genetic disease ISO RGD:1604784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204623 TMEM134 transmembrane protein 134 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1604784 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12204623 TMEM134 transmembrane protein 134 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12204635 CKS1B CDC28 protein kinase regulatory subunit 1B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1344929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12204635 CKS1B CDC28 protein kinase regulatory subunit 1B gene DOID:0111940 immunodeficiency 42 ISO RGD:1344929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12204635 CKS1B CDC28 protein kinase regulatory subunit 1B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12204635 CKS1B CDC28 protein kinase regulatory subunit 1B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12204635 CKS1B CDC28 protein kinase regulatory subunit 1B gene DOID:1540 parathyroid carcinoma ISO RGD:1344929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12204635 CKS1B CDC28 protein kinase regulatory subunit 1B gene DOID:5812 MHC class II deficiency ISO RGD:1344929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12204635 CKS1B CDC28 protein kinase regulatory subunit 1B gene DOID:9008939 Breast Neoplasms ISO RGD:1344929 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast neoplasm 12204635 CKS1B CDC28 protein kinase regulatory subunit 1B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12204652 SIAH2 siah E3 ubiquitin protein ligase 2 gene DOID:0050579 glycogen storage disease XV ISO RGD:734303 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12204652 SIAH2 siah E3 ubiquitin protein ligase 2 gene DOID:110 lens disease ISO RGD:734303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24282676 12204652 SIAH2 siah E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:734303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204667 IFT25 intraflagellar transport 25 gene DOID:14766 renal agenesis ISO RGD:1345374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal agenesis 12204667 IFT25 intraflagellar transport 25 gene DOID:630 genetic disease ISO RGD:1345374 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204681 HOXB5 homeobox B5 gene DOID:630 genetic disease ISO RGD:1342680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204681 HOXB5 homeobox B5 gene DOID:9970 obesity ISO RGD:1342680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22484627 12204689 C12H6orf15 chromosome 12 C6orf15 homolog gene DOID:0050553 JMP syndrome ISO RGD:1348540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12204689 C12H6orf15 chromosome 12 C6orf15 homolog gene DOID:11372 megacolon ISO RGD:1348540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12204689 C12H6orf15 chromosome 12 C6orf15 homolog gene DOID:630 genetic disease ISO RGD:1348540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204689 C12H6orf15 chromosome 12 C6orf15 homolog gene DOID:9002384 Peeling Skin Syndrome 1 ISO RGD:1348540 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peeling skin syndrome 1 PMID:31690835 12204695 OR4C11J olfactory receptor family 4 subfamily C member 11J gene DOID:1059 intellectual disability ISO RGD:1354381 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Intellectual disability 12204695 OR4C11J olfactory receptor family 4 subfamily C member 11J gene DOID:630 genetic disease ISO RGD:1354381 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204707 CD53 CD53 molecule gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:737207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12204707 CD53 CD53 molecule gene DOID:12849 autistic disorder ISO RGD:737207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12204707 CD53 CD53 molecule gene DOID:630 genetic disease ISO RGD:737207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204707 CD53 CD53 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12204707 CD53 CD53 molecule gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:737207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 12204799 P2RX3 purinergic receptor P2X 3 gene DOID:1059 intellectual disability ISO RGD:735321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12204799 P2RX3 purinergic receptor P2X 3 gene DOID:630 genetic disease ISO RGD:735321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204799 P2RX3 purinergic receptor P2X 3 gene DOID:9002211 Hyperalgesia ISO RGD:735321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19383439 12204799 P2RX3 purinergic receptor P2X 3 gene DOID:9006062 Nervous System Trauma ISO RGD:735321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24136739 12204818 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1312110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:15756637|PMID:17508018|PMID:19262603|PMID:20849526|PMID:25741868|PMID:28492532 12204818 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1312110 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:15756637|PMID:17508018|PMID:17576681|PMID:17684380|PMID:19262603|PMID:20672373|PMID:20849526|PMID:22992804|PMID:25741868|PMID:26740202|PMID:28492532|PMID:28851938|PMID:31168818|PMID:31586585|PMID:32707200|PMID:9536098 12204818 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 ISO RGD:1312110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16675967 12204818 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 susceptibility ISO RGD:1312110 D RGD:9068941 20200609 RGD PMID:12915478|REF_RGD_ID:1598548 12204818 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:0060712 autosomal recessive congenital ichthyosis 4A ISO RGD:1312110 D RGD:7240710 20180130 OMIM 12204818 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:0060712 autosomal recessive congenital ichthyosis 4A ISO RGD:1312110 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4A PMID:10094194|PMID:12915478|PMID:15756637|PMID:19262603|PMID:19664001|PMID:20672373|PMID:22257947|PMID:22992804|PMID:23528209|PMID:25741868|PMID:28295493|PMID:28492532|PMID:29722424|PMID:29880184|PMID:29887490|PMID:30600594|PMID:30916489|PMID:32707200|PMID:32851342|PMID:8845852 12204818 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:0060713 autosomal recessive congenital ichthyosis 4B ISO RGD:1312110 D RGD:7240710 20180130 OMIM 12204818 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:0060713 autosomal recessive congenital ichthyosis 4B ISO RGD:1312110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4B PMID:15756637|PMID:16902423|PMID:17684380|PMID:19262603|PMID:19664001|PMID:20672373|PMID:25741868|PMID:26740202|PMID:28492532|PMID:28851938|PMID:29543227|PMID:29880184|PMID:30916489|PMID:31168818|PMID:31586585|PMID:34906502|PMID:35216886 12204818 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:630 genetic disease ISO RGD:1312110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204818 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:9002801 Recurrence ISO RGD:1312110 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 12204818 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12204818 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1312110 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 12204818 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1312110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12204818 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1312110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:28492532 12204818 ABCA12 ATP binding cassette subfamily A member 12 gene DOID:936 brain disease ISO RGD:1312110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868 12204890 STK11IP serine/threonine kinase 11 interacting protein gene DOID:1148 polydactyly ISO RGD:1312841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 12204890 STK11IP serine/threonine kinase 11 interacting protein gene DOID:630 genetic disease ISO RGD:1312841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204890 STK11IP serine/threonine kinase 11 interacting protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12204919 FOXD3 forkhead box D3 gene DOID:0080415 developmental and epileptic encephalopathy 23 ISO RGD:1347778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 PMID:28492532 12204919 FOXD3 forkhead box D3 gene DOID:1059 intellectual disability ISO RGD:1347778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12204919 FOXD3 forkhead box D3 gene DOID:12306 vitiligo ISO RGD:1347778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune disease, susceptibility to, 1 PMID:16098053 12204919 FOXD3 forkhead box D3 gene DOID:12306 vitiligo susceptibility ISO RGD:1347778 D RGD:7240710 20190502 OMIM 12204919 FOXD3 forkhead box D3 gene DOID:1686 glaucoma ISO RGD:1347778 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (human) PMID:28990066|REF_RGD_ID:155630605 12204919 FOXD3 forkhead box D3 gene DOID:630 genetic disease ISO RGD:1347778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204925 ELF3 E74 like ETS transcription factor 3 gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1321734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26258846 12204925 ELF3 E74 like ETS transcription factor 3 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1321734 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12204925 ELF3 E74 like ETS transcription factor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1321734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12204925 ELF3 E74 like ETS transcription factor 3 gene DOID:630 genetic disease ISO RGD:1321734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204925 ELF3 E74 like ETS transcription factor 3 gene DOID:9000310 Lung Injury ISO RGD:1321734 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21709667 12204925 ELF3 E74 like ETS transcription factor 3 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1321734 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12204925 ELF3 E74 like ETS transcription factor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12204941 KNOP1 lysine rich nucleolar protein 1 gene DOID:630 genetic disease ISO RGD:1606640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12204961 TTF2 transcription termination factor 2 gene DOID:630 genetic disease ISO RGD:1319323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205017 ATP6V1G2 ATPase H+ transporting V1 subunit G2 gene DOID:0050553 JMP syndrome ISO RGD:1347481 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12205017 ATP6V1G2 ATPase H+ transporting V1 subunit G2 gene DOID:11372 megacolon ISO RGD:1347481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12205017 ATP6V1G2 ATPase H+ transporting V1 subunit G2 gene DOID:630 genetic disease ISO RGD:1347481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205028 TOMM34 translocase of outer mitochondrial membrane 34 gene DOID:2234 focal epilepsy ISO RGD:1319142 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12205028 TOMM34 translocase of outer mitochondrial membrane 34 gene DOID:630 genetic disease ISO RGD:1319142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205028 TOMM34 translocase of outer mitochondrial membrane 34 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1319142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12205039 RIPK2 receptor interacting serine/threonine kinase 2 gene DOID:1024 leprosy ISO RGD:1319357 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 12205039 RIPK2 receptor interacting serine/threonine kinase 2 gene DOID:630 genetic disease ISO RGD:1319357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205039 RIPK2 receptor interacting serine/threonine kinase 2 gene DOID:8577 ulcerative colitis ISO RGD:1319357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20452301 12205058 PTER phosphotriesterase related gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1352492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12205058 PTER phosphotriesterase related gene DOID:1909 melanoma ISO RGD:1352492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12205058 PTER phosphotriesterase related gene DOID:630 genetic disease ISO RGD:1352492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205058 PTER phosphotriesterase related gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12205058 PTER phosphotriesterase related gene DOID:9007188 Liver Neoplasms ISO RGD:1352492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 12205080 TAS1R2 taste 1 receptor member 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1353489 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12205080 TAS1R2 taste 1 receptor member 2 gene DOID:630 genetic disease ISO RGD:1353489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205116 BRMS1L BRMS1 like transcriptional repressor gene DOID:630 genetic disease ISO RGD:1314372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205116 BRMS1L BRMS1 like transcriptional repressor gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314372 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12205134 SMAD5 SMAD family member 5 gene DOID:0060001 withdrawal disorder ISO RGD:1349958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 12205134 SMAD5 SMAD family member 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349958 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12205134 SMAD5 SMAD family member 5 gene DOID:2999 granulosa cell tumor ISO RGD:1550273 D RGD:9068941 20200609 RGD PMID:17967875|REF_RGD_ID:2299978 12205134 SMAD5 SMAD family member 5 gene DOID:630 genetic disease ISO RGD:1349958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205134 SMAD5 SMAD family member 5 gene DOID:9004207 Testicular Neoplasms ISO RGD:1550273 D RGD:9068941 20200609 RGD PMID:17967875|REF_RGD_ID:2299978 12205134 SMAD5 SMAD family member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12205134 SMAD5 SMAD family member 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1349958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 12205134 SMAD5 SMAD family member 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349958 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12205134 SMAD5 SMAD family member 5 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349958 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20079400 12205150 NDRG1 N-myc downstream regulated 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1316419 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10831399|PMID:12872253|PMID:15322984|PMID:16199547|PMID:17470135|PMID:17576681|PMID:18787837|PMID:21892769|PMID:23996628|PMID:25108819|PMID:25231362|PMID:25741868|PMID:26002053|PMID:26467025|PMID:28492532|PMID:30311386|PMID:32376792|PMID:9536098 12205150 NDRG1 N-myc downstream regulated 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1316419 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:10831399|PMID:12872253|PMID:15322984|PMID:16199547|PMID:17470135|PMID:17576681|PMID:18787837|PMID:20301641|PMID:21892769|PMID:23996628|PMID:25108819|PMID:25231362|PMID:25741868|PMID:26002053|PMID:26467025|PMID:28492532|PMID:30311386|PMID:32376792|PMID:9536098 12205150 NDRG1 N-myc downstream regulated 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1316419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10831399|PMID:12872253|PMID:15322984|PMID:16199547|PMID:17470135|PMID:17576681|PMID:18787837|PMID:20301641|PMID:21892769|PMID:23996628|PMID:25108819|PMID:25231362|PMID:25741868|PMID:26002053|PMID:26467025|PMID:28492532|PMID:28776325|PMID:30311386|PMID:32376792|PMID:34169998|PMID:9536098 12205150 NDRG1 N-myc downstream regulated 1 gene DOID:0110186 Charcot-Marie-Tooth disease type 4D IAGP D RGD:12801476 20220119 OMIA Polyneuropathy, NDRG1-related PMID:9298480|PMID:20582309|PMID:19954445|PMID:22331326|PMID:23393557|PMID:28464941|PMID:33334662|PMID:35019187 12205150 NDRG1 N-myc downstream regulated 1 gene DOID:0110186 Charcot-Marie-Tooth disease type 4D ISO RGD:1316419 D RGD:7240710 20180711 OMIM 12205150 NDRG1 N-myc downstream regulated 1 gene DOID:0110186 Charcot-Marie-Tooth disease type 4D ISO RGD:1316419 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D PMID:10831399|PMID:12872253|PMID:15322984|PMID:16199547|PMID:17470135|PMID:17576681|PMID:20301641|PMID:20582309|PMID:21892769|PMID:23393557|PMID:23996628|PMID:24136616|PMID:25108819|PMID:25231362|PMID:25741868|PMID:26002053|PMID:26467025|PMID:28454995|PMID:28492532|PMID:30311386|PMID:31673878|PMID:32376792|PMID:9536098 12205150 NDRG1 N-myc downstream regulated 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1316419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:12872253|PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792|PMID:9536098 12205150 NDRG1 N-myc downstream regulated 1 gene DOID:14264 benign neonatal seizures ISO RGD:1316419 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 12205150 NDRG1 N-myc downstream regulated 1 gene DOID:1909 melanoma ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 12205150 NDRG1 N-myc downstream regulated 1 gene DOID:3068 glioblastoma ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 12205150 NDRG1 N-myc downstream regulated 1 gene DOID:3069 malignant astrocytoma ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 12205150 NDRG1 N-myc downstream regulated 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778198 12205150 NDRG1 N-myc downstream regulated 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 12205150 NDRG1 N-myc downstream regulated 1 gene DOID:4310 smooth muscle tumor ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 12205150 NDRG1 N-myc downstream regulated 1 gene DOID:4450 renal cell carcinoma ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 12205150 NDRG1 N-myc downstream regulated 1 gene DOID:5241 hemangioblastoma ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 12205150 NDRG1 N-myc downstream regulated 1 gene DOID:5409 lung small cell carcinoma ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 12205150 NDRG1 N-myc downstream regulated 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22972152 12205150 NDRG1 N-myc downstream regulated 1 gene DOID:630 genetic disease ISO RGD:1316419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12872253|PMID:16199547|PMID:17576681|PMID:23996628|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792|PMID:34169998|PMID:9536098 12205150 NDRG1 N-myc downstream regulated 1 gene DOID:9000906 Oropharyngeal Neoplasms ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22972152 12205150 NDRG1 N-myc downstream regulated 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15867226|PMID:22972152 12205150 NDRG1 N-myc downstream regulated 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12205150 NDRG1 N-myc downstream regulated 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 12205150 NDRG1 N-myc downstream regulated 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 12205150 NDRG1 N-myc downstream regulated 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 12205150 NDRG1 N-myc downstream regulated 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22972152 12205150 NDRG1 N-myc downstream regulated 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:0050873 follicular lymphoma ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:1615155 D RGD:9068941 20220128 RGD PMID:27253414|REF_RGD_ID:151347600 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:0080600 COVID-19 ISO RGD:1351803 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1351803 D RGD:7240710 20190315 OMIM 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1351803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like | ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like 1 PMID:24728327|PMID:25741868|PMID:26642243|PMID:28492532|PMID:29241730|PMID:30810840|PMID:31625129|PMID:32666380 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:12894 Sjogren's syndrome ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097066|PMID:24097067 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:1612 breast cancer ameliorates ISO RGD:1351803 D RGD:9068941 20220128 RGD associated with Neoplasm Metastasis; human cells in mouse model PMID:28892081|REF_RGD_ID:151347436 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:219 colon cancer ISO RGD:1351803 D RGD:9068941 20220128 RGD protein:decreased expression:colon (human) PMID:27991929|REF_RGD_ID:151347529 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:219 colon cancer ISO RGD:1351803 D RGD:9068941 20220204 RGD mRNA,protein:increased expression:colon (human) PMID:24099634|REF_RGD_ID:151347624 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:219 colon cancer treatment ISO RGD:1615155 D RGD:9068941 20220128 RGD associated with Experimental Colitis PMID:27991929|REF_RGD_ID:151347529 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:2377 multiple sclerosis ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24076602 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1351803 D RGD:9068941 20220128 RGD mRNA,protein:increased expression:esophagus squamous epithelium (human) PMID:28197630|REF_RGD_ID:151347617 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:417 autoimmune disease ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24453940 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:4947 cholangiocarcinoma severity ISO RGD:1351803 D RGD:9068941 20220128 RGD protein:increased expression:bile duct (human) PMID:26485275|REF_RGD_ID:11250478 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:5041 esophageal cancer disease_progression ISO RGD:1351803 D RGD:9068941 20220128 RGD DNA:SNP:intron 6: (rs610604) (human) PMID:25354935|REF_RGD_ID:151347597 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:5041 esophageal cancer severity ISO RGD:1351803 D RGD:9068941 20220128 RGD DNA:SNP:3'utr: (rs583522) (human) PMID:26598072|REF_RGD_ID:11075880 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:5517 stomach carcinoma ISO RGD:1351803 D RGD:9068941 20220128 RGD mRNA,protein:increased expression:stomach (human) PMID:31153693|REF_RGD_ID:151347607 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:630 genetic disease ISO RGD:1351803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1351803 D RGD:9068941 20220128 RGD mRNA:decreased expression:liver (human) PMID:29190981|REF_RGD_ID:151347622 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1351803 D RGD:9068941 20220128 RGD protein:decreased expression:liver (human) PMID:32015333|REF_RGD_ID:151347604 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1351803 D RGD:9068941 20220128 RGD mRNA,protein:increased expression:liver (human) PMID:26538215|REF_RGD_ID:151347618 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:684 hepatocellular carcinoma sexual_dimorphism ISO RGD:1615155 D RGD:9068941 20220128 RGD PMID:27253414|REF_RGD_ID:151347600 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18794853|PMID:20453842|PMID:21841782|PMID:23143596|PMID:30224649 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:8577 ulcerative colitis severity ISO RGD:1351803 D RGD:9068941 20220128 RGD mRNA,protein:increased expression, decreased expression:colonic mucosa (human) PMID:28842689|REF_RGD_ID:151347619 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:8893 psoriasis ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19169254|PMID:20953190 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1351803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:26642243|PMID:28492532|PMID:29572183|PMID:8960473|PMID:9806040 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:9005372 Inflammation ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24453940 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:9006364 Hereditary Autoinflammatory Diseases ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26642243 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1351803 D RGD:9068941 20220128 RGD DNA:SNP,haplotypes: (rs148314165, rs200820567) (human) PMID:28784141|REF_RGD_ID:151347613 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19165918|PMID:19165919|PMID:19838193|PMID:21336280 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:9256 colorectal cancer severity ISO RGD:1351803 D RGD:9068941 20220128 RGD DNA:SNP:3'utr: (rs6920220) (human) PMID:22843550|REF_RGD_ID:151347611 12205175 TNFAIP3 TNF alpha induced protein 3 gene DOID:9261 nasopharynx carcinoma treatment ISO RGD:1351803 D RGD:9068941 20220128 RGD PMID:26149137|REF_RGD_ID:151347434 12205192 RPUSD3 RNA pseudouridine synthase D3 gene DOID:2843 long QT syndrome ISO RGD:1351633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12205192 RPUSD3 RNA pseudouridine synthase D3 gene DOID:630 genetic disease ISO RGD:1351633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356970 12205192 RPUSD3 RNA pseudouridine synthase D3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12205192 RPUSD3 RNA pseudouridine synthase D3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1351633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12205205 GIPC1 GIPC PDZ domain containing family member 1 gene DOID:0081298 oculopharyngodistal myopathy 2 ISO RGD:733913 D RGD:7240710 20200722 OMIM 12205205 GIPC1 GIPC PDZ domain containing family member 1 gene DOID:630 genetic disease ISO RGD:733913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205225 FDX2 ferredoxin 2 gene DOID:630 genetic disease ISO RGD:1604250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28803783 12205225 FDX2 ferredoxin 2 gene DOID:699 mitochondrial myopathy ISO RGD:1604250 D RGD:7240710 20190424 OMIM 12205225 FDX2 ferredoxin 2 gene DOID:699 mitochondrial myopathy ISO RGD:1604250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial Myopathies PMID:24281368|PMID:25741868|PMID:28492532|PMID:30010796 12205225 FDX2 ferredoxin 2 gene DOID:9009081 Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy ISO RGD:1604250 D RGD:7240710 20190424 OMIM 12205225 FDX2 ferredoxin 2 gene DOID:9009081 Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy ISO RGD:1604250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY PMID:25741868|PMID:28492532 12205242 KIF18A kinesin family member 18A gene DOID:10534 stomach cancer disease_progression ISO RGD:1352766 D RGD:9068941 20200609 RGD PMID:27215532|REF_RGD_ID:11554202 12205242 KIF18A kinesin family member 18A gene DOID:1059 intellectual disability ISO RGD:1352766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12205242 KIF18A kinesin family member 18A gene DOID:630 genetic disease ISO RGD:1352766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205242 KIF18A kinesin family member 18A gene DOID:684 hepatocellular carcinoma ISO RGD:1352766 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12205242 KIF18A kinesin family member 18A gene DOID:9256 colorectal cancer disease_progression ISO RGD:1352766 D RGD:9068941 20200609 RGD PMID:21213216|REF_RGD_ID:11554203 12205269 DCLK3 doublecortin like kinase 3 gene DOID:630 genetic disease ISO RGD:1352758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205284 USPL1 ubiquitin specific peptidase like 1 gene DOID:630 genetic disease ISO RGD:1321964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205298 SPATA13 spermatogenesis associated 13 gene DOID:1826 epilepsy ISO RGD:1316520 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12205298 SPATA13 spermatogenesis associated 13 gene DOID:5419 schizophrenia ISO RGD:1316520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12205298 SPATA13 spermatogenesis associated 13 gene DOID:630 genetic disease ISO RGD:1316520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205321 MTFP1 mitochondrial fission process 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1604816 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain (mouse) PMID:19492057|REF_RGD_ID:12880394 12205321 MTFP1 mitochondrial fission process 1 gene DOID:630 genetic disease ISO RGD:1604816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205321 MTFP1 mitochondrial fission process 1 gene DOID:769 neuroblastoma severity ISO RGD:1604816 D RGD:9068941 20200609 RGD mRNA:increased expression:neural tissue (human) PMID:27765905|REF_RGD_ID:12880392 12205330 ADGRA3 adhesion G protein-coupled receptor A3 gene DOID:10584 retinitis pigmentosa ISO RGD:1312627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:23105016|PMID:26355662|PMID:28492532|PMID:30718709 12205330 ADGRA3 adhesion G protein-coupled receptor A3 gene DOID:630 genetic disease ISO RGD:1312627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12205330 ADGRA3 adhesion G protein-coupled receptor A3 gene DOID:8501 fundus dystrophy ISO RGD:1312627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532|PMID:28714225 12205353 JPH3 junctophilin 3 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1318170 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12205353 JPH3 junctophilin 3 gene DOID:0090104 Huntington's disease-like 2 ISO RGD:1318170 D RGD:7240710 20180130 OMIM 12205353 JPH3 junctophilin 3 gene DOID:0090104 Huntington's disease-like 2 ISO RGD:1318170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Huntington disease-like 2 PMID:25741868|PMID:28492532 12205353 JPH3 junctophilin 3 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1318170 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12205353 JPH3 junctophilin 3 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1318170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12205353 JPH3 junctophilin 3 gene DOID:630 genetic disease ISO RGD:1318170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12205353 JPH3 junctophilin 3 gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1318170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to PMID:24530203|PMID:26913920|PMID:28492532 12205353 JPH3 junctophilin 3 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1318170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12205353 JPH3 junctophilin 3 gene DOID:9007980 Sleep Deprivation ISO RGD:1318171 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:18077435|REF_RGD_ID:6480426 12205353 JPH3 junctophilin 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 12205362 KLHL15 kelch like family member 15 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12205362 KLHL15 kelch like family member 15 gene DOID:0112020 non-syndromic X-linked intellectual disability 103 ISO RGD:1351915 D RGD:7240710 20190315 OMIM 12205362 KLHL15 kelch like family member 15 gene DOID:0112020 non-syndromic X-linked intellectual disability 103 ISO RGD:1351915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 103 PMID:24817631|PMID:25644381|PMID:25741868 12205362 KLHL15 kelch like family member 15 gene DOID:12849 autistic disorder ISO RGD:1351915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12205362 KLHL15 kelch like family member 15 gene DOID:630 genetic disease ISO RGD:1351915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205362 KLHL15 kelch like family member 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12205369 KDM5C lysine demethylase 5C gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1349337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:27799067 12205369 KDM5C lysine demethylase 5C gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12205369 KDM5C lysine demethylase 5C gene DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type ISO RGD:1349337 D RGD:7240710 20180130 OMIM 12205369 KDM5C lysine demethylase 5C gene DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type ISO RGD:1349337 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Claes-Jensen type PMID:10982473|PMID:15586325|PMID:1605217|PMID:16538222|PMID:16541399|PMID:17244608|PMID:18203167|PMID:18414213|PMID:18697827|PMID:19826449|PMID:21575681|PMID:23356856|PMID:25644381|PMID:25666439|PMID:25666757|PMID:25741868|PMID:25741873|PMID:27959697|PMID:28492532|PMID:28708303|PMID:29304373|PMID:31419599|PMID:32279304|PMID:34356104|PMID:36672956 12205369 KDM5C lysine demethylase 5C gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1349337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 12205369 KDM5C lysine demethylase 5C gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:1349337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 PMID:26059843|PMID:28492532 12205369 KDM5C lysine demethylase 5C gene DOID:10534 stomach cancer ISO RGD:1349337 D RGD:9068941 20220303 RGD mRNA:increased expression:stomach (human) PMID:26858085|REF_RGD_ID:151361174 12205369 KDM5C lysine demethylase 5C gene DOID:1059 intellectual disability ISO RGD:1349337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868|PMID:32581362 12205369 KDM5C lysine demethylase 5C gene DOID:12190 descending colon cancer onset ISO RGD:1349337 D RGD:9068941 20220303 RGD associate with colorectal cancer;DNA:mutations:multiple (human) PMID:30018131|REF_RGD_ID:151361178 12205369 KDM5C lysine demethylase 5C gene DOID:12849 autistic disorder ISO RGD:1349337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12205369 KDM5C lysine demethylase 5C gene DOID:12858 Huntington's disease ISO RGD:1349337 D RGD:9068941 20200609 RGD mRNA:increased expression:caudate nucleus (human) PMID:23872847|REF_RGD_ID:9587806 12205369 KDM5C lysine demethylase 5C gene DOID:1612 breast cancer severity ISO RGD:1349337 D RGD:9068941 20200609 RGD mRNA:altered expression:breast (human) PMID:22199269|REF_RGD_ID:9586031 12205369 KDM5C lysine demethylase 5C gene DOID:1826 epilepsy ISO RGD:1349337 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12205369 KDM5C lysine demethylase 5C gene DOID:219 colon cancer ISO RGD:1349337 D RGD:9068941 20220303 RGD mRNA:increased expression:colon (human) PMID:33042830|REF_RGD_ID:151361176 12205369 KDM5C lysine demethylase 5C gene DOID:4450 renal cell carcinoma ISO RGD:1349337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 12205369 KDM5C lysine demethylase 5C gene DOID:4928 intrahepatic cholangiocarcinoma exacerbates ISO RGD:1349337 D RGD:9068941 20220303 RGD protein:decreased expression:bile duct (human) PMID:32714863|REF_RGD_ID:151361175 12205369 KDM5C lysine demethylase 5C gene DOID:5419 schizophrenia ISO RGD:1560601 D RGD:9068941 20200609 RGD protein:increased expression:prefrontal cortex (rat) PMID:23932495|REF_RGD_ID:9586022 12205369 KDM5C lysine demethylase 5C gene DOID:607 paraplegia ISO RGD:1349337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:15586325|PMID:16199547|PMID:18414213|PMID:18697827|PMID:22326837|PMID:23356856|PMID:23757202|PMID:24583395|PMID:24728327|PMID:25644381|PMID:25666439|PMID:25666757|PMID:25741868|PMID:25801821|PMID:26467025|PMID:26863999|PMID:26934580|PMID:27959697|PMID:28492532|PMID:29304373|PMID:29670509|PMID:32279304 12205369 KDM5C lysine demethylase 5C gene DOID:630 genetic disease ISO RGD:1349337 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15586325|PMID:1605217|PMID:17244608|PMID:17468742|PMID:18414213|PMID:18697827|PMID:19826449|PMID:20181063|PMID:23757202|PMID:24583395|PMID:24728327|PMID:25666439|PMID:25741868|PMID:26467025|PMID:27214403|PMID:28492532|PMID:28708303|PMID:31912665|PMID:32279304 12205369 KDM5C lysine demethylase 5C gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1349337 D RGD:9068941 20220303 RGD protein:increased expression:liver (human) PMID:26503415|REF_RGD_ID:11530160 12205369 KDM5C lysine demethylase 5C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12205369 KDM5C lysine demethylase 5C gene DOID:9004507 Hirsutism ISO RGD:1349337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirsutism 12205369 KDM5C lysine demethylase 5C gene DOID:9004603 Atkin Syndrome ISO RGD:1349337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome PMID:26059843|PMID:28492532 12205369 KDM5C lysine demethylase 5C gene DOID:9005219 Abnormal Reflexes ISO RGD:1349337 D RGD:9068941 20200609 RGD DNA:missense mutations, frameshift mutations:multiple (human) PMID:18697827|REF_RGD_ID:9587807 12205369 KDM5C lysine demethylase 5C gene DOID:9008582 Developmental Disease ISO RGD:1349337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28708303 12205369 KDM5C lysine demethylase 5C gene DOID:9256 colorectal cancer ISO RGD:1349337 D RGD:9068941 20220303 RGD mRNA:increased expression:colorectum (human) PMID:32552762|REF_RGD_ID:151361177 12205369 KDM5C lysine demethylase 5C gene DOID:9538 multiple myeloma ISO RGD:1349337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12205414 CNEP1R1 CTD nuclear envelope phosphatase 1 regulatory subunit 1 gene DOID:0111122 nephronophthisis 14 ISO RGD:1603875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 12205414 CNEP1R1 CTD nuclear envelope phosphatase 1 regulatory subunit 1 gene DOID:630 genetic disease ISO RGD:1603875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205430 ATP6AP1L ATPase H+ transporting accessory protein 1 like gene DOID:630 genetic disease ISO RGD:1603596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205430 ATP6AP1L ATPase H+ transporting accessory protein 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12205430 ATP6AP1L ATPase H+ transporting accessory protein 1 like gene DOID:9008939 Breast Neoplasms ISO RGD:1603596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12205448 MROH7 maestro heat like repeat family member 7 gene DOID:630 genetic disease ISO RGD:1605524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205481 FAH fumarylacetoacetate hydrolase gene DOID:0050726 tyrosinemia type I ISO RGD:733367 D RGD:7240710 20180425 OMIM 12205481 FAH fumarylacetoacetate hydrolase gene DOID:0050726 tyrosinemia type I ISO RGD:733367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:10073910|PMID:10508789|PMID:11196105|PMID:11278491|PMID:11476670|PMID:11754109|PMID:12203990|PMID:12555948|PMID:1401056|PMID:14691918|PMID:15187789|PMID:15465000|PMID:15638932|PMID:16199547|PMID:16521249|PMID:17576681|PMID:19569981|PMID:20301688|PMID:21117323|PMID:21752152|PMID:21764616|PMID:22145516|PMID:22554029|PMID:22802474|PMID:22884142|PMID:22975760|PMID:23000314|PMID:23193487|PMID:23225041|PMID:23348723|PMID:23430822|PMID:23430836|PMID:23895425|PMID:23927806|PMID:24016420|PMID:24033266|PMID:24516753|PMID:24555242|PMID:24756054|PMID:25081276|PMID:25087612|PMID:25256450|PMID:25525159|PMID:25564536|PMID:25681080|PMID:25741868|PMID:26565546|PMID:27093575|PMID:27397503|PMID:27814443|PMID:28039895|PMID:28468868|PMID:28492532|PMID:28755182|PMID:28755192|PMID:29326876|PMID:29497141|PMID:30414057|PMID:306090409|PMID:30954369|PMID:31030436|PMID:31300554|PMID:31568711|PMID:31965297|PMID:31998365|PMID:32832707|PMID:7550234|PMID:7757089|PMID:7929843|PMID:7942842|PMID:7977370|PMID:8005583|PMID:8028615|PMID:8076937|PMID:8162054|PMID:8204664|PMID:8318997|PMID:8364576|PMID:8557261|PMID:8723690|PMID:8723698|PMID:8821854|PMID:8829657|PMID:9101289|PMID:9536098|PMID:9633815|PMID:9705236 12205481 FAH fumarylacetoacetate hydrolase gene DOID:0050726 tyrosinemia type I treatment ISO RGD:62225 D RGD:9068941 20200609 RGD PMID:30368954|REF_RGD_ID:14401588 12205481 FAH fumarylacetoacetate hydrolase gene DOID:0080125 mitochondrial DNA depletion syndrome 6 ISO RGD:733367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Navajo neurohepatopathy PMID:16199547|PMID:25681080|PMID:25741868|PMID:28492532|PMID:9101289|PMID:9633815 12205481 FAH fumarylacetoacetate hydrolase gene DOID:0080600 COVID-19 ISO RGD:733367 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12205481 FAH fumarylacetoacetate hydrolase gene DOID:10763 hypertension ISO RGD:61932 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:15731461|REF_RGD_ID:1559295 12205481 FAH fumarylacetoacetate hydrolase gene DOID:2717 Bloom syndrome ISO RGD:733367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12205481 FAH fumarylacetoacetate hydrolase gene DOID:409 liver disease ISO RGD:62225 D RGD:9068941 20200609 RGD PMID:7545495|REF_RGD_ID:737742 12205481 FAH fumarylacetoacetate hydrolase gene DOID:5082 liver cirrhosis ISO RGD:61932 D RGD:9068941 20200609 RGD PMID:27510266|REF_RGD_ID:14398823 12205481 FAH fumarylacetoacetate hydrolase gene DOID:630 genetic disease ISO RGD:733367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12205481 FAH fumarylacetoacetate hydrolase gene DOID:687 hepatoblastoma ISO RGD:733367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 12205481 FAH fumarylacetoacetate hydrolase gene DOID:9007874 Liver Failure ISO RGD:61932 D RGD:9068941 20200609 RGD PMID:27510266|REF_RGD_ID:14398823 12205481 FAH fumarylacetoacetate hydrolase gene DOID:9256 colorectal cancer ISO RGD:733367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12205481 FAH fumarylacetoacetate hydrolase gene DOID:9275 tyrosinemia ISO RGD:733367 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: FAH deficiency | ClinVar Annotator: match by term: Hypertyrosinemia | ClinVar Annotator: match by term: Tyrosinemia PMID:20301688|PMID:25741868|PMID:28492532|PMID:7977370 12205499 PIF1 PIF1 5'-to-3' DNA helicase gene DOID:0110935 nemaline myopathy 6 ISO RGD:1316743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12205499 PIF1 PIF1 5'-to-3' DNA helicase gene DOID:2717 Bloom syndrome ISO RGD:1316743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12205499 PIF1 PIF1 5'-to-3' DNA helicase gene DOID:630 genetic disease ISO RGD:1316743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205499 PIF1 PIF1 5'-to-3' DNA helicase gene DOID:9007479 Habitual Abortions ISO RGD:1316743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion 12205499 PIF1 PIF1 5'-to-3' DNA helicase gene DOID:9256 colorectal cancer ISO RGD:1316743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12205516 ITGA6 integrin subunit alpha 6 gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:731429 D RGD:7240710 20180130 OMIM 12205516 ITGA6 integrin subunit alpha 6 gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:731429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia PMID:14675179|PMID:23496044|PMID:25741868|PMID:27607025|PMID:28492532|PMID:9185503 12205516 ITGA6 integrin subunit alpha 6 gene DOID:0060737 junctional epidermolysis bullosa Herlitz type ISO RGD:731430 D RGD:9068941 20220825 MouseDO OMIM:226700 12205516 ITGA6 integrin subunit alpha 6 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:731429 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12205516 ITGA6 integrin subunit alpha 6 gene DOID:3209 junctional epidermolysis bullosa ISO RGD:731429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa PMID:21357940|PMID:25741868 12205516 ITGA6 integrin subunit alpha 6 gene DOID:630 genetic disease ISO RGD:731429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12205516 ITGA6 integrin subunit alpha 6 gene DOID:7148 rheumatoid arthritis ISO RGD:731429 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 12205516 ITGA6 integrin subunit alpha 6 gene DOID:9000965 Neoplasm Metastasis ISO RGD:621633 D RGD:9068941 20200609 RGD PMID:13130099|REF_RGD_ID:1302259 12205548 SNAPC1 small nuclear RNA activating complex polypeptide 1 gene DOID:630 genetic disease ISO RGD:1312249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205566 MIR409 microRNA mir-409 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1603786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12205566 MIR409 microRNA mir-409 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1603786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 12205566 MIR409 microRNA mir-409 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1603786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12205566 MIR409 microRNA mir-409 gene DOID:6000 congestive heart failure ISO RGD:1603786 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12205566 MIR409 microRNA mir-409 gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1603786 D RGD:9068941 20200609 RGD PMID:23360331|REF_RGD_ID:10755694 12205566 MIR409 microRNA mir-409 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1603786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12205566 MIR409 microRNA mir-409 gene DOID:9005172 Lung Neoplasms ISO RGD:1603786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12205566 MIR409 microRNA mir-409 gene DOID:9007787 Carcinoid Tumor ISO RGD:1603786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12205566 MIR409 microRNA mir-409 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12205569 MIR101-1 microRNA mir-101-1 gene DOID:1059 intellectual disability ISO RGD:1345212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12205569 MIR101-1 microRNA mir-101-1 gene DOID:3770 pulmonary fibrosis ISO RGD:1345212 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28726637 12205627 IL17D interleukin 17D gene DOID:0081312 T-cell non-Hodgkin lymphoma severity ISO RGD:1558575 D RGD:9068941 20210108 RGD PMID:31244826|REF_RGD_ID:40903065 12205627 IL17D interleukin 17D gene DOID:0110253 cataract 14 multiple types ISO RGD:1348652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 12205627 IL17D interleukin 17D gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1348652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:28492532 12205627 IL17D interleukin 17D gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1348652 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:28492532 12205627 IL17D interleukin 17D gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1348652 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:28492532 12205627 IL17D interleukin 17D gene DOID:11573 listeriosis severity ISO RGD:1558575 D RGD:9068941 20210108 RGD PMID:31244826|REF_RGD_ID:40903065 12205627 IL17D interleukin 17D gene DOID:14693 Clouston syndrome ISO RGD:1348652 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia PMID:28492532 12205627 IL17D interleukin 17D gene DOID:1909 melanoma severity ISO RGD:1558575 D RGD:9068941 20210108 RGD PMID:31244826|REF_RGD_ID:40903065 12205627 IL17D interleukin 17D gene DOID:2121 ectodermal dysplasia ISO RGD:1348652 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 12205627 IL17D interleukin 17D gene DOID:2280 hidradenitis suppurativa sexual_dimorphism ISO RGD:1348652 D RGD:9068941 20210625 RGD mRNA:increased expression:apocrine gland (human) PMID:32031713|REF_RGD_ID:40903066 12205627 IL17D interleukin 17D gene DOID:526 human immunodeficiency virus infectious disease severity ISO RGD:1348652 D RGD:9068941 20210108 RGD Protein:increased expression:blood plasma (human) PMID:28592538|REF_RGD_ID:40903074 12205627 IL17D interleukin 17D gene DOID:630 genetic disease ISO RGD:1348652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205627 IL17D interleukin 17D gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1348652 D RGD:9068941 20210108 RGD associated with human immunodeficiency virus infectious disease;mRNA:increased expression:blood plasma (human) PMID:27875997|REF_RGD_ID:40903073 12205627 IL17D interleukin 17D gene DOID:9004484 Sepsis severity ISO RGD:1558575 D RGD:9068941 20210108 RGD PMID:31634237|REF_RGD_ID:40903064 12205627 IL17D interleukin 17D gene DOID:9004484 Sepsis treatment ISO RGD:1348652 D RGD:9068941 20210108 RGD protein:increased expression:blood serum (human) PMID:31634237|REF_RGD_ID:40903064 12205627 IL17D interleukin 17D gene DOID:9004484 Sepsis treatment ISO RGD:1558575 D RGD:9068941 20210108 RGD PMID:31634237|REF_RGD_ID:40903064 12205627 IL17D interleukin 17D gene DOID:9006262 Cytomegalovirus Infections severity ISO RGD:1558575 D RGD:9068941 20210108 RGD PMID:30209334|REF_RGD_ID:40903063 12205685 ATP5F1B ATP synthase F1 subunit beta gene DOID:0050700 cardiomyopathy treatment ISO RGD:621368 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:17229387|REF_RGD_ID:13792652 12205685 ATP5F1B ATP synthase F1 subunit beta gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:1344847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 12205685 ATP5F1B ATP synthase F1 subunit beta gene DOID:0060071 pre-malignant neoplasm ISO RGD:1344847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12205685 ATP5F1B ATP synthase F1 subunit beta gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1557957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25666834 12205685 ATP5F1B ATP synthase F1 subunit beta gene DOID:0080600 COVID-19 ISO RGD:1344847 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12205685 ATP5F1B ATP synthase F1 subunit beta gene DOID:11612 polycystic ovary syndrome ISO RGD:621368 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:pancreas (rat) PMID:28397049|REF_RGD_ID:13703107 12205685 ATP5F1B ATP synthase F1 subunit beta gene DOID:224 transient cerebral ischemia ISO RGD:621368 D RGD:9068941 20200609 RGD protein:increased expression:cerebrum (rat) PMID:21950801|REF_RGD_ID:13792582 12205685 ATP5F1B ATP synthase F1 subunit beta gene DOID:3021 acute kidney failure ISO RGD:1344847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25666834 12205685 ATP5F1B ATP synthase F1 subunit beta gene DOID:3021 acute kidney failure ISO RGD:1557957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25666834 12205685 ATP5F1B ATP synthase F1 subunit beta gene DOID:630 genetic disease ISO RGD:1344847 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205685 ATP5F1B ATP synthase F1 subunit beta gene DOID:9000188 HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 ISO RGD:1344847 D RGD:7240710 20221123 OMIM 12205685 ATP5F1B ATP synthase F1 subunit beta gene DOID:9000188 HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 ISO RGD:1344847 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 PMID:36239646 12205685 ATP5F1B ATP synthase F1 subunit beta gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:621368 D RGD:9068941 20200609 RGD mRNA:decreased expression:renal glomerulus (rat) PMID:22591908|REF_RGD_ID:13792578 12205685 ATP5F1B ATP synthase F1 subunit beta gene DOID:9002231 Fetal Growth Retardation ISO RGD:621368 D RGD:9068941 20200609 RGD protein:decreased expression:liver (rat) PMID:26342040|REF_RGD_ID:13782135 12205685 ATP5F1B ATP synthase F1 subunit beta gene DOID:9002669 Hypoxia ISO RGD:1344847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 12205685 ATP5F1B ATP synthase F1 subunit beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621368 D RGD:9068941 20200609 RGD associated with polycystic ovary syndrome;mRNA, protein:decreased expression:pancreas (rat) PMID:28397049|REF_RGD_ID:13703107 12205685 ATP5F1B ATP synthase F1 subunit beta gene DOID:9007591 Hypermetabolism due to Defect in Mitochondria ISO RGD:1344847 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Hypermetabolism due to Defect in Mitochondrial Coupling PMID:36239646 12205685 ATP5F1B ATP synthase F1 subunit beta gene DOID:9008691 Liver Injury ISO RGD:621368 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:25772430|REF_RGD_ID:13800895 12205685 ATP5F1B ATP synthase F1 subunit beta gene DOID:9352 type 2 diabetes mellitus ISO RGD:621368 D RGD:9068941 20200609 RGD protein:decreased expression:islet of Langerhans (rat) PMID:21117707|REF_RGD_ID:13792619 12205685 ATP5F1B ATP synthase F1 subunit beta gene DOID:9970 obesity treatment ISO RGD:621368 D RGD:9068941 20200609 RGD PMID:26880535|REF_RGD_ID:13782133 12205699 MRPS36 mitochondrial ribosomal protein S36 gene DOID:630 genetic disease ISO RGD:1319596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205699 MRPS36 mitochondrial ribosomal protein S36 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12205707 ANAPC4 anaphase promoting complex subunit 4 gene DOID:630 genetic disease ISO RGD:1315264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205740 COPS7A COP9 signalosome subunit 7A gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1320761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12205740 COPS7A COP9 signalosome subunit 7A gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1320761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12205740 COPS7A COP9 signalosome subunit 7A gene DOID:0111621 Temtamy syndrome ISO RGD:1320761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12205740 COPS7A COP9 signalosome subunit 7A gene DOID:630 genetic disease ISO RGD:1320761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205740 COPS7A COP9 signalosome subunit 7A gene DOID:9000217 Stomach Neoplasms ISO RGD:1320761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12205740 COPS7A COP9 signalosome subunit 7A gene DOID:9000918 Disease Progression ISO RGD:1320761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12205740 COPS7A COP9 signalosome subunit 7A gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1320761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12205763 CD200 CD200 molecule gene DOID:417 autoimmune disease ISO RGD:1332092 D RGD:9068941 20220825 MouseDO OMIM:109100 | OMIM:607836 | OMIM:613551 12205763 CD200 CD200 molecule gene DOID:630 genetic disease ISO RGD:1606033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205773 POLL DNA polymerase lambda gene DOID:0090020 split hand-foot malformation ISO RGD:1317600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation PMID:21681106 12205773 POLL DNA polymerase lambda gene DOID:630 genetic disease ISO RGD:1317600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205793 PRCC proline rich mitotic checkpoint control factor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1319153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12205793 PRCC proline rich mitotic checkpoint control factor gene DOID:0111940 immunodeficiency 42 ISO RGD:1319153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12205793 PRCC proline rich mitotic checkpoint control factor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1319153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12205793 PRCC proline rich mitotic checkpoint control factor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1319153 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12205793 PRCC proline rich mitotic checkpoint control factor gene DOID:1540 parathyroid carcinoma ISO RGD:1319153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12205793 PRCC proline rich mitotic checkpoint control factor gene DOID:4450 renal cell carcinoma ISO RGD:1319153 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:25741868 12205793 PRCC proline rich mitotic checkpoint control factor gene DOID:4465 papillary renal cell carcinoma ISO RGD:1319153 D RGD:7240710 20180919 OMIM 12205793 PRCC proline rich mitotic checkpoint control factor gene DOID:5812 MHC class II deficiency ISO RGD:1319153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12205793 PRCC proline rich mitotic checkpoint control factor gene DOID:630 genetic disease ISO RGD:1319153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205793 PRCC proline rich mitotic checkpoint control factor gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1319153 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:25741868 12205793 PRCC proline rich mitotic checkpoint control factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12205818 MC2R melanocortin 2 receptor gene DOID:0050562 West syndrome ISO RGD:1348934 D RGD:9068941 20200609 RGD DNA:snps:promoter:multiple (human) PMID:19024088|REF_RGD_ID:6484693 12205818 MC2R melanocortin 2 receptor gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1348934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12205818 MC2R melanocortin 2 receptor gene DOID:0080621 glucocorticoid deficiency 1 ISO RGD:1348934 D RGD:7240710 20180130 OMIM 12205818 MC2R melanocortin 2 receptor gene DOID:0080621 glucocorticoid deficiency 1 ISO RGD:1348934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 1 PMID:10443676|PMID:12213892|PMID:14960026|PMID:16271481|PMID:17128565|PMID:17223989|PMID:18059087|PMID:18407210|PMID:18492762|PMID:18504396|PMID:18840636|PMID:19170705|PMID:19558534|PMID:21932602|PMID:25741868|PMID:26650942|PMID:28492532|PMID:34258490|PMID:7829641|PMID:8069303|PMID:8094489|PMID:8227361|PMID:8250922|PMID:8636348|PMID:9758716 12205818 MC2R melanocortin 2 receptor gene DOID:1059 intellectual disability ISO RGD:1348934 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12205818 MC2R melanocortin 2 receptor gene DOID:10763 hypertension ISO RGD:1348934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11082157 12205818 MC2R melanocortin 2 receptor gene DOID:14115 toxic shock syndrome ISO RGD:628649 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:2822467|REF_RGD_ID:6484558 12205818 MC2R melanocortin 2 receptor gene DOID:630 genetic disease ISO RGD:1348934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205818 MC2R melanocortin 2 receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12205818 MC2R melanocortin 2 receptor gene DOID:9004713 Acute-Phase Reaction ISO RGD:628649 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:22183812|REF_RGD_ID:6484138 12205818 MC2R melanocortin 2 receptor gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:1348934 D RGD:9068941 20200609 RGD Familial glucocorticoid deficiency (ACTH resistance), OMIM:202200 PMID:12213892|REF_RGD_ID:1600747 12205818 MC2R melanocortin 2 receptor gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:1348934 D RGD:9068941 20200609 RGD familial glucocorticoid deficiency (ACTJ resistance), OMIM:202200 PMID:8094489|REF_RGD_ID:1600745 12205818 MC2R melanocortin 2 receptor gene DOID:9007480 Hyperoxia ISO RGD:1553230 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:8110467|REF_RGD_ID:6484136 12205822 MIR125A microRNA mir-125a gene DOID:0060071 pre-malignant neoplasm ISO RGD:1353053 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12205822 MIR125A microRNA mir-125a gene DOID:0080162 lupus nephritis ISO RGD:2325387 D RGD:9068941 20200609 RGD RNA:decreased expression:kidney PMID:30972208|REF_RGD_ID:26884458 12205822 MIR125A microRNA mir-125a gene DOID:10534 stomach cancer disease_progression ISO RGD:1353053 D RGD:9068941 20200609 RGD PMID:30117667|REF_RGD_ID:21403678 12205822 MIR125A microRNA mir-125a gene DOID:10534 stomach cancer severity ISO RGD:1353053 D RGD:9068941 20200609 RGD PMID:22322911|REF_RGD_ID:21408544 12205822 MIR125A microRNA mir-125a gene DOID:10603 glucose intolerance ISO RGD:1607653 D RGD:9068941 20200609 RGD PMID:31988048|REF_RGD_ID:21403676 12205822 MIR125A microRNA mir-125a gene DOID:1168 familial hyperlipidemia ISO RGD:1607653 D RGD:9068941 20200609 RGD PMID:31988048|REF_RGD_ID:21403676 12205822 MIR125A microRNA mir-125a gene DOID:12098 trigeminal neuralgia ISO RGD:2325387 D RGD:9068941 20200609 RGD RNA:decreased expression: trigeminal ganglion: PMID:25380251|REF_RGD_ID:26884456 12205822 MIR125A microRNA mir-125a gene DOID:1790 malignant mesothelioma ISO RGD:1353053 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12205822 MIR125A microRNA mir-125a gene DOID:1826 epilepsy treatment ISO RGD:2325387 D RGD:9068941 20200609 RGD PMID:31490757|REF_RGD_ID:26884457 12205822 MIR125A microRNA mir-125a gene DOID:3770 pulmonary fibrosis ISO RGD:1353053 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30658076 12205822 MIR125A microRNA mir-125a gene DOID:6000 congestive heart failure ISO RGD:1353053 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12205822 MIR125A microRNA mir-125a gene DOID:6432 pulmonary hypertension treatment ISO RGD:2325387 D RGD:9068941 20200609 RGD PMID:29700287|REF_RGD_ID:26884455 12205822 MIR125A microRNA mir-125a gene DOID:684 hepatocellular carcinoma ISO RGD:1353053 D RGD:9068941 20200609 RGD RNA:increased expression:liver: PMID:30257386|REF_RGD_ID:21403677 12205822 MIR125A microRNA mir-125a gene DOID:684 hepatocellular carcinoma severity ISO RGD:1353053 D RGD:9068941 20200609 RGD PMID:29951066|REF_RGD_ID:21403679 12205822 MIR125A microRNA mir-125a gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1607653 D RGD:9068941 20200609 RGD PMID:30257386|REF_RGD_ID:21403677 12205822 MIR125A microRNA mir-125a gene DOID:9000081 Lymphatic Metastasis ISO RGD:1353053 D RGD:9068941 20200609 RGD associated with stomach cancer; PMID:22322911|REF_RGD_ID:21408544 12205822 MIR125A microRNA mir-125a gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353053 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 12205822 MIR125A microRNA mir-125a gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353053 D RGD:9068941 20200609 RGD associated with stomach cancer; PMID:30117667|REF_RGD_ID:21403678 12205822 MIR125A microRNA mir-125a gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1353053 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12205822 MIR125A microRNA mir-125a gene DOID:9002514 Neointima treatment ISO RGD:2325387 D RGD:9068941 20200609 RGD PMID:30156956|REF_RGD_ID:26884369 12205822 MIR125A microRNA mir-125a gene DOID:9004771 Vascular Remodeling treatment ISO RGD:2325387 D RGD:9068941 20200609 RGD PMID:29700287|REF_RGD_ID:26884455 12205822 MIR125A microRNA mir-125a gene DOID:9006302 Binge Drinking ISO RGD:2325387 D RGD:9068941 20200609 RGD RNA:decreased expression:neuron PMID:27085842|REF_RGD_ID:26884454 12205822 MIR125A microRNA mir-125a gene DOID:9007692 Insulin Resistance ISO RGD:1607653 D RGD:9068941 20200609 RGD PMID:31988048|REF_RGD_ID:21403676 12205822 MIR125A microRNA mir-125a gene DOID:9452 fatty liver disease ISO RGD:1607653 D RGD:9068941 20200609 RGD PMID:31988048|REF_RGD_ID:21403676 12205822 MIR125A microRNA mir-125a gene DOID:9970 obesity ISO RGD:1607653 D RGD:9068941 20200609 RGD RNA:decreased expression:liver PMID:31988048|REF_RGD_ID:21403676 12205825 MIR185 microRNA mir-185 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1347667 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12205825 MIR185 microRNA mir-185 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1347667 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12205825 MIR185 microRNA mir-185 gene DOID:11198 DiGeorge syndrome ISO RGD:1347667 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome 12205825 MIR185 microRNA mir-185 gene DOID:12583 velocardiofacial syndrome ISO RGD:1347667 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12205825 MIR185 microRNA mir-185 gene DOID:12849 autistic disorder ISO RGD:1347667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12205825 MIR185 microRNA mir-185 gene DOID:13580 cholestasis ISO RGD:1347667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12205825 MIR185 microRNA mir-185 gene DOID:5419 schizophrenia ISO RGD:1347667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12205825 MIR185 microRNA mir-185 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1347667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22048643 12205825 MIR185 microRNA mir-185 gene DOID:9007661 Dwarfism ISO RGD:1347667 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12205861 TXN thioredoxin gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1345541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:28492532 12205861 TXN thioredoxin gene DOID:12336 male infertility ISO RGD:1345541 D RGD:9068941 20200609 RGD protein:increased expression:sperm (human) PMID:15181017|REF_RGD_ID:1303999 12205861 TXN thioredoxin gene DOID:630 genetic disease ISO RGD:1345541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205870 NT5DC1 5'-nucleotidase domain containing 1 gene DOID:0060163 body dysmorphic disorder ISO RGD:1313107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 12205870 NT5DC1 5'-nucleotidase domain containing 1 gene DOID:0080021 Schmid metaphyseal chondrodysplasia ISO RGD:1313107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE PMID:10721676|PMID:10991694|PMID:11805116|PMID:12554676|PMID:12584438|PMID:15695517|PMID:15880705|PMID:16088909|PMID:17403716|PMID:20872587|PMID:25741868|PMID:28492532|PMID:29234170|PMID:30202406|PMID:30408610|PMID:34423584|PMID:7607655|PMID:7749409|PMID:7936797|PMID:8004099|PMID:8012364|PMID:8220429|PMID:8304336|PMID:8554571|PMID:8782043|PMID:8986632|PMID:9067753|PMID:9525992|PMID:9708440|PMID:9837818|PMID:9852679|PMID:9920912 12205870 NT5DC1 5'-nucleotidase domain containing 1 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1313107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12205870 NT5DC1 5'-nucleotidase domain containing 1 gene DOID:1909 melanoma ISO RGD:1313107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12205870 NT5DC1 5'-nucleotidase domain containing 1 gene DOID:630 genetic disease ISO RGD:1313107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12205870 NT5DC1 5'-nucleotidase domain containing 1 gene DOID:9000073 Metaphyseal Chondrodysplasia ISO RGD:1313107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia PMID:25741868|PMID:28492532 12205885 RBM46 RNA binding motif protein 46 gene DOID:630 genetic disease ISO RGD:1602830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205904 CEACAM20 CEA cell adhesion molecule 20 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1601830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12205904 CEACAM20 CEA cell adhesion molecule 20 gene DOID:5050 Ehrlich tumor carcinoma ISO RGD:1601830 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34605108 12205904 CEACAM20 CEA cell adhesion molecule 20 gene DOID:630 genetic disease ISO RGD:1601830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205921 CUL3 cullin 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1317824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12205921 CUL3 cullin 3 gene DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 ISO RGD:1317824 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant PMID:25741868|PMID:28492532 12205921 CUL3 cullin 3 gene DOID:1059 intellectual disability ISO RGD:1317824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12205921 CUL3 cullin 3 gene DOID:1909 melanoma ISO RGD:1317824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12205921 CUL3 cullin 3 gene DOID:4479 pseudohypoaldosteronism ISO RGD:1317824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperpotassemia and hypertension familial PMID:22266938 12205921 CUL3 cullin 3 gene DOID:630 genetic disease ISO RGD:1317824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12205921 CUL3 cullin 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1317824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12205921 CUL3 cullin 3 gene DOID:9002890 Pseudohypoaldosteronism, Type IIA ISO RGD:1317824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome PMID:22266938 12205921 CUL3 cullin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12205921 CUL3 cullin 3 gene DOID:9004952 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES ISO RGD:1317824 D RGD:7240710 20220216 OMIM 12205921 CUL3 cullin 3 gene DOID:9004952 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES ISO RGD:1317824 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without autism or seizures PMID:16199547|PMID:25741868|PMID:27824329|PMID:28492532|PMID:29361671|PMID:32341456|PMID:32860008|PMID:33004838 12205921 CUL3 cullin 3 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1317824 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868|PMID:32341456 12205921 CUL3 cullin 3 gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:1317824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 12205921 CUL3 cullin 3 gene DOID:9008890 Pseudohypoaldosteronism, Type IIE ISO RGD:1317824 D RGD:7240710 20180130 OMIM 12205921 CUL3 cullin 3 gene DOID:9008890 Pseudohypoaldosteronism, Type IIE ISO RGD:1317824 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2E PMID:22266938|PMID:25741868|PMID:28492532|PMID:32341456|PMID:32860008 12205943 VPS37B VPS37B subunit of ESCRT-I gene DOID:630 genetic disease ISO RGD:1605953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205958 STMN2 stathmin 2 gene DOID:630 genetic disease ISO RGD:69000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205967 MCCC2 methylcrotonyl-CoA carboxylase subunit 2 gene DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency ISO RGD:1352586 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency PMID:11181649|PMID:16010683|PMID:16835865|PMID:17576681|PMID:17908719|PMID:17968484|PMID:20818363|PMID:20818383|PMID:21071250|PMID:22264772|PMID:22642865|PMID:25356967|PMID:25381946|PMID:25382614|PMID:25741868|PMID:26566957|PMID:26764160|PMID:27033733|PMID:27601257|PMID:27959697|PMID:28492532|PMID:30510438|PMID:30626930|PMID:31130284|PMID:31730530|PMID:31847883|PMID:32778825|PMID:34899149|PMID:35281663|PMID:9536098 12205967 MCCC2 methylcrotonyl-CoA carboxylase subunit 2 gene DOID:0080580 3-Methylcrotonyl-CoA carboxylase 2 deficiency ISO RGD:1352586 D RGD:7240710 20180130 OMIM 12205967 MCCC2 methylcrotonyl-CoA carboxylase subunit 2 gene DOID:0080580 3-Methylcrotonyl-CoA carboxylase 2 deficiency ISO RGD:1352586 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency PMID:11170888|PMID:11181649|PMID:11406611|PMID:1293382|PMID:14680978|PMID:15877210|PMID:16010683|PMID:16199547|PMID:16835865|PMID:17576681|PMID:17908719|PMID:17968484|PMID:19706617|PMID:20818363|PMID:20818383|PMID:21071250|PMID:22030835|PMID:22150417|PMID:22264772|PMID:22642865|PMID:22658692|PMID:24516753|PMID:25356967|PMID:25381946|PMID:25382614|PMID:25640679|PMID:25741868|PMID:26566957|PMID:26589311|PMID:26764160|PMID:27033733|PMID:27601257|PMID:27959697|PMID:28018443|PMID:28492532|PMID:29247206|PMID:29767664|PMID:30510438|PMID:30626930|PMID:31130284|PMID:31730530|PMID:31847883|PMID:31901042|PMID:32778825|PMID:33423264|PMID:34440436|PMID:34899149|PMID:35281663|PMID:7128647|PMID:8598650|PMID:9536098|PMID:9544913 12205967 MCCC2 methylcrotonyl-CoA carboxylase subunit 2 gene DOID:630 genetic disease ISO RGD:1352586 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11181649|PMID:17908719|PMID:21071250|PMID:22264772|PMID:22642865|PMID:25356967|PMID:25741868|PMID:26566957|PMID:27033733|PMID:27601257|PMID:27959697|PMID:28492532|PMID:29247206|PMID:30510438|PMID:30626930|PMID:31130284|PMID:31847883|PMID:32778825|PMID:34440436|PMID:34899149|PMID:35281663 12205967 MCCC2 methylcrotonyl-CoA carboxylase subunit 2 gene DOID:700 mitochondrial metabolism disease ISO RGD:1352586 D RGD:9068941 20200609 RGD DNA:missense mutations, frameshift mutations:multiple (human) PMID:11170888|REF_RGD_ID:2316864 12205967 MCCC2 methylcrotonyl-CoA carboxylase subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12205988 BIRC2 baculoviral IAP repeat containing 2 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1347209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 12205988 BIRC2 baculoviral IAP repeat containing 2 gene DOID:0050773 paraganglioma exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland, chromaffin cell (human) PMID:31964418|REF_RGD_ID:153344516 12205988 BIRC2 baculoviral IAP repeat containing 2 gene DOID:0050865 tongue squamous cell carcinoma exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD protein:increased expression:tongue (human) PMID:18621506|REF_RGD_ID:153323319 12205988 BIRC2 baculoviral IAP repeat containing 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1347209 D RGD:9068941 20220721 RGD protein:increased expression:oral cavity (human) PMID:20967871|REF_RGD_ID:152999012 12205988 BIRC2 baculoviral IAP repeat containing 2 gene DOID:1059 intellectual disability ISO RGD:1347209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12205988 BIRC2 baculoviral IAP repeat containing 2 gene DOID:1240 leukemia ISO RGD:1347209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12970779 12205988 BIRC2 baculoviral IAP repeat containing 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1347209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12205988 BIRC2 baculoviral IAP repeat containing 2 gene DOID:1612 breast cancer ISO RGD:1347209 D RGD:9068941 20200609 RGD PMID:12218061|REF_RGD_ID:1643528 12205988 BIRC2 baculoviral IAP repeat containing 2 gene DOID:1996 rectum adenocarcinoma disease_progression ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:rectum (human) PMID:31964418|REF_RGD_ID:153344516 12205988 BIRC2 baculoviral IAP repeat containing 2 gene DOID:3275 thymoma ameliorates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:thymus (human) PMID:31964418|REF_RGD_ID:153344516 12205988 BIRC2 baculoviral IAP repeat containing 2 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:stomach (human) PMID:31964418|REF_RGD_ID:153344516 12205988 BIRC2 baculoviral IAP repeat containing 2 gene DOID:3744 cervical squamous cell carcinoma disease_progression ISO RGD:1347209 D RGD:9068941 20200609 RGD DNA, protein:amplification, increased expression:uterine cervix, nucleus PMID:12208731|REF_RGD_ID:1643529 12205988 BIRC2 baculoviral IAP repeat containing 2 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1347209 D RGD:9068941 20220714 RGD protein:increased expression:lung (human) PMID:27737687|REF_RGD_ID:152998985 12205988 BIRC2 baculoviral IAP repeat containing 2 gene DOID:3948 adrenocortical carcinoma exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland (human) PMID:31964418|REF_RGD_ID:153344516 12205988 BIRC2 baculoviral IAP repeat containing 2 gene DOID:4074 pancreatic adenocarcinoma exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:pancreas (human) PMID:31964418|REF_RGD_ID:153344516 12205988 BIRC2 baculoviral IAP repeat containing 2 gene DOID:4362 cervical cancer ISO RGD:1347209 D RGD:9068941 20200609 RGD mRNA:decreased expression:uterine cervix PMID:16504151|REF_RGD_ID:1643527 12205988 BIRC2 baculoviral IAP repeat containing 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1347209 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney PMID:17154176|REF_RGD_ID:1643526 12205988 BIRC2 baculoviral IAP repeat containing 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1347209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 12205988 BIRC2 baculoviral IAP repeat containing 2 gene DOID:5520 head and neck squamous cell carcinoma exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:head or neck skin (human) PMID:31964418|REF_RGD_ID:153344516 12205988 BIRC2 baculoviral IAP repeat containing 2 gene DOID:630 genetic disease ISO RGD:1347209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12205988 BIRC2 baculoviral IAP repeat containing 2 gene DOID:769 neuroblastoma ISO RGD:1347209 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 12205988 BIRC2 baculoviral IAP repeat containing 2 gene DOID:8923 skin melanoma exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:zone of skin (human) PMID:31964418|REF_RGD_ID:153344516 12205988 BIRC2 baculoviral IAP repeat containing 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1347209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14647439 12205988 BIRC2 baculoviral IAP repeat containing 2 gene DOID:9000918 Disease Progression ISO RGD:1347209 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 12205988 BIRC2 baculoviral IAP repeat containing 2 gene DOID:9002846 bowenoid papulosis ISO RGD:1347209 D RGD:9068941 20220714 RGD mRNA:increased expression:perianal skin (human) PMID:20346172|REF_RGD_ID:152998971 12205988 BIRC2 baculoviral IAP repeat containing 2 gene DOID:9003654 Testicular Germ Cell Tumor exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:testis (human) PMID:31964418|REF_RGD_ID:153344516 12205988 BIRC2 baculoviral IAP repeat containing 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1347209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 12205988 BIRC2 baculoviral IAP repeat containing 2 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1347209 D RGD:9068941 20220825 RGD mRNA:decreased expression:colonic mucosa (human) PMID:27827395|REF_RGD_ID:153344527 12206007 GPR37 G protein-coupled receptor 37 gene DOID:12217 Lewy body dementia ISO RGD:735262 D RGD:9068941 20200609 RGD PMID:14991825|REF_RGD_ID:13504666 12206007 GPR37 G protein-coupled receptor 37 gene DOID:14330 Parkinson's disease ISO RGD:735262 D RGD:9068941 20200609 RGD PMID:14991825|REF_RGD_ID:13504666 12206007 GPR37 G protein-coupled receptor 37 gene DOID:1790 malignant mesothelioma ISO RGD:735262 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12206007 GPR37 G protein-coupled receptor 37 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12206007 GPR37 G protein-coupled receptor 37 gene DOID:630 genetic disease ISO RGD:735262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206013 SP4 Sp4 transcription factor gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:731794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 12206013 SP4 Sp4 transcription factor gene DOID:12930 dilated cardiomyopathy ISO RGD:731794 D RGD:9068941 20200609 RGD PMID:15972724|REF_RGD_ID:1581308 12206013 SP4 Sp4 transcription factor gene DOID:1682 congenital heart disease ISO RGD:731794 D RGD:9068941 20200609 RGD PMID:15907824|REF_RGD_ID:1581309 12206013 SP4 Sp4 transcription factor gene DOID:3312 bipolar disorder ISO RGD:731794 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19401786 12206013 SP4 Sp4 transcription factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12206013 SP4 Sp4 transcription factor gene DOID:5419 schizophrenia ISO RGD:11335 D RGD:9068941 20220825 MouseDO OMIM:181500 12206013 SP4 Sp4 transcription factor gene DOID:5419 schizophrenia ISO RGD:731794 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19401786 12206013 SP4 Sp4 transcription factor gene DOID:630 genetic disease ISO RGD:731794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206013 SP4 Sp4 transcription factor gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:731794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 12206013 SP4 Sp4 transcription factor gene DOID:9007925 Sudden Cardiac Death ISO RGD:11335 D RGD:9068941 20200609 RGD PMID:11007485|REF_RGD_ID:1580019 12206013 SP4 Sp4 transcription factor gene DOID:9562 primary ciliary dyskinesia ISO RGD:731794 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 12206023 MMACHC metabolism of cobalamin associated C gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1601765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12206023 MMACHC metabolism of cobalamin associated C gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1601765 D RGD:7240710 20180130 OMIM 12206023 MMACHC metabolism of cobalamin associated C gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1601765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:11261516|PMID:11320193|PMID:14568819|PMID:16199547|PMID:16311595|PMID:16714133|PMID:17431913|PMID:17576681|PMID:17768669|PMID:17853453|PMID:18164228|PMID:18245139|PMID:19370762|PMID:19573432|PMID:19700356|PMID:19760748|PMID:19767224|PMID:19836982|PMID:19914430|PMID:20219402|PMID:20549364|PMID:20610126|PMID:20631720|PMID:20652818|PMID:20924684|PMID:21055272|PMID:21114891|PMID:21228398|PMID:21835369|PMID:22447314|PMID:22560872|PMID:22642810|PMID:23241609|PMID:23580368|PMID:23591356|PMID:23757202|PMID:23825108|PMID:23837176|PMID:23932106|PMID:23954310|PMID:24033266|PMID:24126030|PMID:24210589|PMID:24577983|PMID:24599607|PMID:25388550|PMID:25398587|PMID:25511120|PMID:25668207|PMID:25672861|PMID:25687216|PMID:25689098|PMID:25741868|PMID:25772322|PMID:25809485|PMID:25894566|PMID:26149271|PMID:26253414|PMID:26270766|PMID:26283149|PMID:26287336|PMID:26464686|PMID:26467025|PMID:26563984|PMID:26658511|PMID:26825575|PMID:26979128|PMID:26990548|PMID:27252276|PMID:27383490|PMID:27751223|PMID:28151490|PMID:28218226|PMID:28327205|PMID:28337550|PMID:28454995|PMID:28481040|PMID:28492532|PMID:28693988|PMID:28835862|PMID:29294253|PMID:29340559|PMID:29379858|PMID:29396438|PMID:29453417|PMID:29581464|PMID:29731766|PMID:30157807|PMID:30197982|PMID:30209273|PMID:30293248|PMID:30863077|PMID:31092259|PMID:31130284|PMID:31278756|PMID:31279840|PMID:31470807|PMID:31503356|PMID:31555752|PMID:31574870|PMID:31998365|PMID:32071835|PMID:32164588|PMID:32439973|PMID:32481360|PMID:32943488|PMID:33411215|PMID:33473346|PMID:34215320|PMID:34356170|PMID:34389282|PMID:34445196|PMID:9536098 12206023 MMACHC metabolism of cobalamin associated C gene DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ISO RGD:1601765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | ClinVar Annotator: match by term: Methylmalonic aciduria, mut type PMID:11320193|PMID:16311595|PMID:16714133|PMID:17431913|PMID:17853453|PMID:18164228|PMID:19370762|PMID:19700356|PMID:19760748|PMID:20219402|PMID:20631720|PMID:21055272|PMID:22560872|PMID:23825108|PMID:24577983|PMID:25511120|PMID:25687216|PMID:25741868|PMID:25809485|PMID:26149271|PMID:26283149|PMID:26563984|PMID:28218226|PMID:28492532|PMID:28693988 12206023 MMACHC metabolism of cobalamin associated C gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1601765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY PMID:11320193|PMID:16311595|PMID:16714133|PMID:17431913|PMID:17853453|PMID:18164228|PMID:19370762|PMID:19700356|PMID:19760748|PMID:20219402|PMID:20631720|PMID:21055272|PMID:22560872|PMID:23825108|PMID:24577983|PMID:25511120|PMID:25687216|PMID:25741868|PMID:25809485|PMID:26149271|PMID:26283149|PMID:26563984|PMID:28218226|PMID:28492532|PMID:28693988 12206023 MMACHC metabolism of cobalamin associated C gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1601765 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:16311595|PMID:16714133|PMID:17768669|PMID:17853453|PMID:18164228|PMID:19370762|PMID:19760748|PMID:20549364|PMID:20610126|PMID:20631720|PMID:23757202|PMID:23837176|PMID:24033266|PMID:24126030|PMID:24599607|PMID:25687216|PMID:25741868|PMID:25894566|PMID:26467025|PMID:28492532|PMID:29396438|PMID:31279840 12206023 MMACHC metabolism of cobalamin associated C gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1601765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12206023 MMACHC metabolism of cobalamin associated C gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1601765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12206023 MMACHC metabolism of cobalamin associated C gene DOID:14749 methylmalonic acidemia ISO RGD:1601765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria PMID:11261516|PMID:16311595|PMID:16714133|PMID:17853453|PMID:18245139|PMID:19370762|PMID:19700356|PMID:25398587|PMID:25672861|PMID:25689098|PMID:25741868|PMID:26825575|PMID:26990548|PMID:28492532|PMID:34356170 12206023 MMACHC metabolism of cobalamin associated C gene DOID:630 genetic disease ISO RGD:1601765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11261516|PMID:11320193|PMID:16311595|PMID:16714133|PMID:17853453|PMID:18164228|PMID:18245139|PMID:19370762|PMID:19700356|PMID:20219402|PMID:20631720|PMID:21055272|PMID:22560872|PMID:23825108|PMID:23932106|PMID:24126030|PMID:25398587|PMID:25672861|PMID:25687216|PMID:25689098|PMID:25741868|PMID:25809485|PMID:26283149|PMID:26825575|PMID:26990548|PMID:28218226|PMID:28337550|PMID:28492532|PMID:28693988|PMID:30293248|PMID:31555752|PMID:32439973|PMID:34356170|PMID:34445196 12206023 MMACHC metabolism of cobalamin associated C gene DOID:655 inherited metabolic disorder ISO RGD:1601765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:11261516|PMID:11320193|PMID:14568819|PMID:16311595|PMID:16714133|PMID:17431913|PMID:17768669|PMID:17853453|PMID:18164228|PMID:18245139|PMID:19370762|PMID:19700356|PMID:19760748|PMID:20219402|PMID:20549364|PMID:20610126|PMID:20631720|PMID:20924684|PMID:21055272|PMID:22560872|PMID:22642810|PMID:23757202|PMID:23825108|PMID:23837176|PMID:23932106|PMID:23954310|PMID:24033266|PMID:24126030|PMID:24210589|PMID:24577983|PMID:24599607|PMID:25398587|PMID:25511120|PMID:25668207|PMID:25672861|PMID:25687216|PMID:25689098|PMID:25741868|PMID:25772322|PMID:25809485|PMID:25894566|PMID:26149271|PMID:26283149|PMID:26467025|PMID:26563984|PMID:26825575|PMID:26990548|PMID:27383490|PMID:28218226|PMID:28327205|PMID:28337550|PMID:28492532|PMID:28693988|PMID:29294253|PMID:29396438|PMID:30197982|PMID:30293248|PMID:31130284|PMID:31279840|PMID:31555752|PMID:32071835|PMID:32439973|PMID:32481360|PMID:32943488|PMID:33473346|PMID:34356170|PMID:34445196 12206023 MMACHC metabolism of cobalamin associated C gene DOID:8501 fundus dystrophy ISO RGD:1601765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16311595|PMID:19370762|PMID:24210589|PMID:25398587|PMID:25741868|PMID:28492532|PMID:30197982|PMID:32071835|PMID:32481360|PMID:33473346 12206023 MMACHC metabolism of cobalamin associated C gene DOID:9263 homocystinuria ISO RGD:1601765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Homocystinuria PMID:11261516|PMID:16311595|PMID:16714133|PMID:17853453|PMID:18245139|PMID:19370762|PMID:19700356|PMID:25398587|PMID:25672861|PMID:25689098|PMID:25741868|PMID:26825575|PMID:26990548|PMID:28492532|PMID:34356170 12206035 POU4F2 POU class 4 homeobox 2 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1346191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 12206035 POU4F2 POU class 4 homeobox 2 gene DOID:630 genetic disease ISO RGD:1346191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206039 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:0050127 sinusitis ISO RGD:1347084 D RGD:9068941 20200609 RGD protein:increased secretion:sinus mucus PMID:17063754|REF_RGD_ID:5131192 12206039 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1347084 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:21506741|PMID:21506748|PMID:23321605|PMID:23692170|PMID:23695349|PMID:23940607|PMID:24033266|PMID:25741868|PMID:25926289|PMID:28492532|PMID:30345907 12206039 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:0050156 idiopathic pulmonary fibrosis susceptibility ISO RGD:1347084 D RGD:7240710 20230505 OMIM 12206039 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1347084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12206039 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:0080773 delta beta-thalassemia ISO RGD:1347084 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12206039 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:0111969 immunodeficiency 39 ISO RGD:1347084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12206039 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1347084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12206039 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:10140 dry eye syndrome ISO RGD:62293 D RGD:9068941 20200609 RGD PMID:23272068|REF_RGD_ID:7364762 12206039 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:10754 otitis media ISO RGD:1347084 D RGD:9068941 20200609 RGD mRNA:increased expression:middle ear PMID:14690056|REF_RGD_ID:7349395 12206039 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:10754 otitis media ISO RGD:1616427 D RGD:9068941 20200609 RGD associated with CHARGE Syndrome PMID:22539951|REF_RGD_ID:7349405 12206039 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:11054 urinary bladder cancer ISO RGD:1347084 D RGD:9068941 20200609 RGD DNA:repeats PMID:19191526|REF_RGD_ID:7349339 12206039 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1347084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12206039 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:1485 cystic fibrosis ISO RGD:1347084 D RGD:9068941 20200609 RGD PMID:17255563|REF_RGD_ID:5131191 12206039 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:1485 cystic fibrosis ISO RGD:1347084 D RGD:9068941 20200609 RGD protein:altered glycosylation:saliva PMID:11845304|REF_RGD_ID:5131194 12206039 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:1347084 D RGD:9068941 20200609 RGD protein:altered expression:sputum PMID:11802783|REF_RGD_ID:5131252 12206039 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:1623927 D RGD:9068941 20200609 RGD PMID:11587997|REF_RGD_ID:7364763 12206039 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:2942 bronchiolitis ISO RGD:1347084 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:rs885454,rs17235353, rs7115457 (human) PMID:15709052|REF_RGD_ID:7349353 12206039 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1347084 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:18776153|REF_RGD_ID:5131169 12206039 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1347084 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:7657125|REF_RGD_ID:2324986 12206039 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:4947 cholangiocarcinoma ISO RGD:1347084 D RGD:9068941 20200609 RGD mRNA:decreased expression:bile duct PMID:11680592|REF_RGD_ID:2324948 12206039 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:630 genetic disease ISO RGD:1347084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266 12206039 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1347084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12206039 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:9007425 Diffuse Panbronchiolitis ISO RGD:1347084 D RGD:9068941 20200609 RGD DNA:insertion/deletion PMID:15709052|REF_RGD_ID:7349353 12206039 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:9008821 Otitis Media with Effusion ISO RGD:1347084 D RGD:9068941 20200609 RGD mRNA:increased expression:middle ear PMID:16540890|REF_RGD_ID:7364744 12206039 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:9008821 Otitis Media with Effusion ISO RGD:1551003 D RGD:9068941 20200609 RGD mRNA:decreased expression:ear PMID:22336013|REF_RGD_ID:7364764 12206039 MUC5B mucin 5B, oligomeric mucus/gel-forming gene DOID:9261 nasopharynx carcinoma ISO RGD:1561983 D RGD:9068941 20200609 RGD PMID:19068094|REF_RGD_ID:2325214 12206093 LAIR1 leukocyte associated immunoglobulin like receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1344054 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12206093 LAIR1 leukocyte associated immunoglobulin like receptor 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1344054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 12206093 LAIR1 leukocyte associated immunoglobulin like receptor 1 gene DOID:630 genetic disease ISO RGD:1344054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206107 DMAC2 distal membrane arm assembly component 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1605674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12206107 DMAC2 distal membrane arm assembly component 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1605674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12206107 DMAC2 distal membrane arm assembly component 2 gene DOID:2340 craniosynostosis ISO RGD:1605674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12206107 DMAC2 distal membrane arm assembly component 2 gene DOID:630 genetic disease ISO RGD:1605674 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206107 DMAC2 distal membrane arm assembly component 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1605674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12206107 DMAC2 distal membrane arm assembly component 2 gene DOID:9269 maple syrup urine disease ISO RGD:1605674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12206117 OR52L1 olfactory receptor family 52 subfamily L member 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1352155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12206117 OR52L1 olfactory receptor family 52 subfamily L member 1 gene DOID:630 genetic disease ISO RGD:1352155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206121 PLCG1 phospholipase C gamma 1 gene DOID:0001816 angiosarcoma ISO RGD:735936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24633157 12206121 PLCG1 phospholipase C gamma 1 gene DOID:0050424 familial adenomatous polyposis ISO RGD:735936 D RGD:9068941 20220218 RGD protein:increased expression:colonic mucosa (human) PMID:8174133|REF_RGD_ID:151356944 12206121 PLCG1 phospholipase C gamma 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:735936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 12206121 PLCG1 phospholipase C gamma 1 gene DOID:0050866 oral squamous cell carcinoma ameliorates ISO RGD:735936 D RGD:9068941 20220218 RGD protein:decreased expression:oral cavity (human) PMID:25085076|REF_RGD_ID:151356936 12206121 PLCG1 phospholipase C gamma 1 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:735936 D RGD:9068941 20200609 RGD PMID:26464646|REF_RGD_ID:11526681 12206121 PLCG1 phospholipase C gamma 1 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:735936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 12206121 PLCG1 phospholipase C gamma 1 gene DOID:10652 Alzheimer's disease ISO RGD:735936 D RGD:9068941 20200609 RGD PMID:8534418|REF_RGD_ID:13825140 12206121 PLCG1 phospholipase C gamma 1 gene DOID:1324 lung cancer exacerbates ISO RGD:735937 D RGD:9068941 20220224 RGD PMID:33077911|REF_RGD_ID:151356960 12206121 PLCG1 phospholipase C gamma 1 gene DOID:1612 breast cancer ISO RGD:735936 D RGD:9068941 20200609 RGD PMID:9703922|REF_RGD_ID:2299874 12206121 PLCG1 phospholipase C gamma 1 gene DOID:219 colon cancer treatment ISO RGD:3347 D RGD:9068941 20220218 RGD PMID:7812955|REF_RGD_ID:151356942 12206121 PLCG1 phospholipase C gamma 1 gene DOID:2234 focal epilepsy ISO RGD:735936 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12206121 PLCG1 phospholipase C gamma 1 gene DOID:2876 laryngeal squamous cell carcinoma ameliorates ISO RGD:735936 D RGD:9068941 20220317 RGD mRNA:increased expression:larynx (human) PMID:33466212|REF_RGD_ID:151665160 12206121 PLCG1 phospholipase C gamma 1 gene DOID:3459 breast carcinoma ISO RGD:735936 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:1683701|REF_RGD_ID:2299875 12206121 PLCG1 phospholipase C gamma 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:735936 D RGD:9068941 20220407 RGD human cell line in a mouse model PMID:33928024|REF_RGD_ID:151665816 12206121 PLCG1 phospholipase C gamma 1 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:735936 D RGD:9068941 20220224 RGD protein:decreased expression:lung (human) PMID:33077911|REF_RGD_ID:151356960 12206121 PLCG1 phospholipase C gamma 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12206121 PLCG1 phospholipase C gamma 1 gene DOID:630 genetic disease ISO RGD:735936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206121 PLCG1 phospholipase C gamma 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:735936 D RGD:9068941 20220218 RGD human cell line in a mouse model PMID:30623526|REF_RGD_ID:151356937 12206121 PLCG1 phospholipase C gamma 1 gene DOID:8541 Sezary's disease ISO RGD:735936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 12206121 PLCG1 phospholipase C gamma 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3347 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:lens PMID:17612968|REF_RGD_ID:2299877 12206121 PLCG1 phospholipase C gamma 1 gene DOID:9256 colorectal cancer ISO RGD:735936 D RGD:9068941 20220218 RGD protein:increased expression:colorectum (human) PMID:8275435|REF_RGD_ID:151356938 12206121 PLCG1 phospholipase C gamma 1 gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:3347 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25052858|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27054081|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059|PMID:9425895 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:10356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25052858|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27054081|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059|PMID:31418850 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0050742 nicotine dependence ISO RGD:10356 D RGD:7240710 20230517 OMIM 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0050742 nicotine dependence ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nicotine addiction, protection against PMID:15154117|PMID:25741868|PMID:26467025|PMID:28492532 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:10356 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy PMID:10448807|PMID:10563623|PMID:10643924|PMID:10964949|PMID:11904236|PMID:12887446|PMID:14534157|PMID:14623738|PMID:15154117|PMID:17290276|PMID:17576681|PMID:18414213|PMID:18685138|PMID:19020039|PMID:19058950|PMID:19237585|PMID:19628475|PMID:19822871|PMID:20016990|PMID:20805988|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22873564|PMID:22883468|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24385388|PMID:24811917|PMID:25741868|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26467025|PMID:26561946|PMID:26704558|PMID:26758118|PMID:27029629|PMID:27779742|PMID:28492532|PMID:29590070|PMID:31628766|PMID:7476881|PMID:7550350|PMID:7647781|PMID:8696332|PMID:8833159|PMID:9339675|PMID:9536098 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:10356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:10448807|PMID:10563623|PMID:10643924|PMID:10939581|PMID:10964949|PMID:11904236|PMID:12887446|PMID:14534157|PMID:14623738|PMID:15154117|PMID:16222669|PMID:17290276|PMID:17576681|PMID:18414213|PMID:18685138|PMID:19020039|PMID:19058950|PMID:19237585|PMID:19628475|PMID:19822871|PMID:20016990|PMID:20805988|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22118295|PMID:22873564|PMID:22883468|PMID:23166088|PMID:23360469|PMID:23593457|PMID:23692823|PMID:24385388|PMID:24811917|PMID:25741868|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26467025|PMID:26561946|PMID:26704558|PMID:26758118|PMID:27779742|PMID:28492532|PMID:29454195|PMID:29590070|PMID:3089211|PMID:31628766|PMID:36292983|PMID:7476881|PMID:7550350|PMID:7647781|PMID:8696332|PMID:8833159|PMID:9339675|PMID:9536098 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0060682 autosomal dominant nocturnal frontal lobe epilepsy 1 ISO RGD:10356 D RGD:7240710 20230517 OMIM 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0060682 autosomal dominant nocturnal frontal lobe epilepsy 1 ISO RGD:10356 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 1 PMID:10448807|PMID:10563623|PMID:10643924|PMID:10939581|PMID:11904236|PMID:12887446|PMID:14623738|PMID:15154117|PMID:16222669|PMID:18685138|PMID:19020039|PMID:19058950|PMID:19237585|PMID:19628475|PMID:20016990|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22118295|PMID:22873564|PMID:22883468|PMID:23593457|PMID:24385388|PMID:25741868|PMID:26467025|PMID:26561946|PMID:26704558|PMID:28492532|PMID:29590070|PMID:7476881|PMID:7550350|PMID:7647781|PMID:8696332|PMID:8833159|PMID:9339675 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:23453664|PMID:23959892|PMID:25607374|PMID:28492532 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:30866059 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:10356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:10448807|PMID:10563623|PMID:10643924|PMID:10939581|PMID:10964949|PMID:11904236|PMID:12887446|PMID:14534157|PMID:14623738|PMID:15154117|PMID:16222669|PMID:17290276|PMID:17576681|PMID:18414213|PMID:18685138|PMID:19020039|PMID:19058950|PMID:19237585|PMID:19628475|PMID:19822871|PMID:20016990|PMID:20805988|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22118295|PMID:22873564|PMID:22883468|PMID:23166088|PMID:23360469|PMID:23593457|PMID:23692823|PMID:24385388|PMID:24811917|PMID:25741868|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26467025|PMID:26561946|PMID:26704558|PMID:26758118|PMID:27779742|PMID:28492532|PMID:29454195|PMID:29590070|PMID:3089211|PMID:31628766|PMID:36292983|PMID:7476881|PMID:7550350|PMID:7647781|PMID:8696332|PMID:8833159|PMID:9339675|PMID:9536098 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0081325 developmental and epileptic encephalopathy 94 ISO RGD:10356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 94 PMID:25741868 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:10356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25052858|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27054081|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059|PMID:31418850 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:1059 intellectual disability ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:10652 Alzheimer's disease ISO RGD:10356 D RGD:9068941 20200609 RGD PMID:15465084|REF_RGD_ID:1358509 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:10356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21748252 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:11832 visual epilepsy ISO RGD:10356 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:10563623|PMID:10643924|PMID:11904236|PMID:12887446|PMID:14623738|PMID:15154117|PMID:18414213|PMID:19020039|PMID:19058950|PMID:19628475|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22873564|PMID:22883468|PMID:24385388|PMID:25741868|PMID:26467025|PMID:26561946|PMID:28492532 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:12217 Lewy body dementia ISO RGD:10356 D RGD:9068941 20200609 RGD PMID:15465084|REF_RGD_ID:1358509 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:12849 autistic disorder ISO RGD:10356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15046869 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:1826 epilepsy ISO RGD:10356 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:10563623|PMID:10643924|PMID:11904236|PMID:12887446|PMID:14623738|PMID:15154117|PMID:18414213|PMID:19020039|PMID:19058950|PMID:19628475|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22873564|PMID:22883468|PMID:24385388|PMID:25741868|PMID:26467025|PMID:26561946|PMID:28492532 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:1826 epilepsy ISO RGD:10356 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:10563623|PMID:10643924|PMID:11904236|PMID:12887446|PMID:14623738|PMID:15154117|PMID:18414213|PMID:19020039|PMID:19058950|PMID:19628475|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22873564|PMID:22883468|PMID:23593457|PMID:24385388|PMID:25741868|PMID:26467025|PMID:26561946|PMID:28492532 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:1826 epilepsy ISO RGD:10356 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:26467025|PMID:28492532 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:332 amyotrophic lateral sclerosis ISO RGD:10356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532|PMID:29454195|PMID:31628766 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:3331 frontal lobe epilepsy ISO RGD:10356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12823585|PMID:14996991|PMID:17881519 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:535 sleep disorder ISO RGD:10356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16339034 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:543 dystonia ISO RGD:10356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19404753 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:6000 congestive heart failure ISO RGD:2346 D RGD:9068941 20200609 RGD associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum PMID:16497176|REF_RGD_ID:1642301 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:630 genetic disease ISO RGD:10356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10563623|PMID:10643924|PMID:10939581|PMID:11904236|PMID:12887446|PMID:14623738|PMID:15154117|PMID:18414213|PMID:19020039|PMID:19058950|PMID:19237585|PMID:19628475|PMID:20016990|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22118295|PMID:22873564|PMID:22883468|PMID:23593457|PMID:24385388|PMID:25282705|PMID:25741868|PMID:26467025|PMID:26561946|PMID:28492532|PMID:31628766|PMID:9339675 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:863 nervous system disease ISO RGD:10356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20805988 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:9001310 Tobacco Use Disorder ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tobacco use disorder PMID:19628475|PMID:21107856|PMID:21683344|PMID:22873564|PMID:24385388|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31628766 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:9005372 Inflammation ISO RGD:10356 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20943775 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:9008086 Developmental Disabilities ISO RGD:10356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20805988 12206156 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:9255 frontotemporal dementia ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:28492532 12206173 ANKMY1 ankyrin repeat and MYND domain containing 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1345862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12206173 ANKMY1 ankyrin repeat and MYND domain containing 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1345862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12206173 ANKMY1 ankyrin repeat and MYND domain containing 1 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1345862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 12206173 ANKMY1 ankyrin repeat and MYND domain containing 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1345862 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12206173 ANKMY1 ankyrin repeat and MYND domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1345862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12206173 ANKMY1 ankyrin repeat and MYND domain containing 1 gene DOID:630 genetic disease ISO RGD:1345862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206173 ANKMY1 ankyrin repeat and MYND domain containing 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1345862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12206207 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0050777 Joubert syndrome ISO RGD:733255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12206207 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:733255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12206207 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:733255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12206207 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:733255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12206207 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12206207 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:733255 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12206207 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733255 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12206207 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0081097 Rafiq syndrome ISO RGD:733255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12206207 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:10763 hypertension ISO RGD:69266 D RGD:9068941 20200609 RGD PMID:20655932|REF_RGD_ID:9685529 12206207 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:12236 primary biliary cholangitis ISO RGD:733255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15651265 12206207 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:12236 primary biliary cholangitis ISO RGD:733255 D RGD:9068941 20200609 RGD PMID:15651265|REF_RGD_ID:9685530 12206207 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:1826 epilepsy ISO RGD:733255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12206207 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:3070 high grade glioma ISO RGD:733255 D RGD:9068941 20200609 RGD PMID:19558578|REF_RGD_ID:9685528 12206207 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:3652 Leigh disease ISO RGD:733255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12206207 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:5082 liver cirrhosis ISO RGD:733255 D RGD:9068941 20200609 RGD associated with hepatitis C PMID:15651265|REF_RGD_ID:9685530 12206207 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:630 genetic disease ISO RGD:733255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206207 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69266 D RGD:9068941 20200609 RGD PMID:15651265|REF_RGD_ID:9685530 12206207 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:733255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12206227 TDRKH tudor and KH domain containing gene DOID:0111940 immunodeficiency 42 ISO RGD:1322527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12206227 TDRKH tudor and KH domain containing gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1322527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12206227 TDRKH tudor and KH domain containing gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1322527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12206227 TDRKH tudor and KH domain containing gene DOID:12377 spinal muscular atrophy ISO RGD:1322527 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:30503856 12206227 TDRKH tudor and KH domain containing gene DOID:14227 azoospermia ISO RGD:1322527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 12206227 TDRKH tudor and KH domain containing gene DOID:1540 parathyroid carcinoma ISO RGD:1322527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12206227 TDRKH tudor and KH domain containing gene DOID:5812 MHC class II deficiency ISO RGD:1322527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12206227 TDRKH tudor and KH domain containing gene DOID:630 genetic disease ISO RGD:1322527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206227 TDRKH tudor and KH domain containing gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12206245 C1QTNF7 C1q and TNF related 7 gene DOID:630 genetic disease ISO RGD:1315898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206267 COL13A1 collagen type XIII alpha 1 chain gene DOID:0110673 congenital myasthenic syndrome 19 ISO RGD:1607090 D RGD:7240710 20180130 OMIM 12206267 COL13A1 collagen type XIII alpha 1 chain gene DOID:0110673 congenital myasthenic syndrome 19 ISO RGD:1607090 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 19 PMID:16199547|PMID:17576681|PMID:25741868|PMID:26626625|PMID:28492532|PMID:30767057|PMID:31081514|PMID:9536098 12206267 COL13A1 collagen type XIII alpha 1 chain gene DOID:3635 congenital myasthenic syndrome ISO RGD:1607090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12206267 COL13A1 collagen type XIII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1607090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12206267 COL13A1 collagen type XIII alpha 1 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:1607090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12206326 DNAJB3 DnaJ heat shock protein family (Hsp40) member B3 gene DOID:0060476 Perlman syndrome ISO RGD:1602396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12206326 DNAJB3 DnaJ heat shock protein family (Hsp40) member B3 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1602396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12206326 DNAJB3 DnaJ heat shock protein family (Hsp40) member B3 gene DOID:630 genetic disease ISO RGD:1602396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206331 H2BC3 H2B clustered histone 3 gene DOID:630 genetic disease ISO RGD:1343461 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206336 RPH3AL rabphilin 3A like (without C2 domains) gene DOID:630 genetic disease ISO RGD:1347963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206336 RPH3AL rabphilin 3A like (without C2 domains) gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 12206349 CAPN8 calpain 8 gene DOID:10608 celiac disease ISO RGD:736537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 12206349 CAPN8 calpain 8 gene DOID:1540 parathyroid carcinoma ISO RGD:736537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12206349 CAPN8 calpain 8 gene DOID:630 genetic disease ISO RGD:736537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206349 CAPN8 calpain 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12206373 GPR132 G protein-coupled receptor 132 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1321937 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12206373 GPR132 G protein-coupled receptor 132 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1321937 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 12206373 GPR132 G protein-coupled receptor 132 gene DOID:417 autoimmune disease ISO RGD:1321938 D RGD:9068941 20220825 MouseDO OMIM:109100 | OMIM:607836 | OMIM:613551 12206373 GPR132 G protein-coupled receptor 132 gene DOID:630 genetic disease ISO RGD:1321937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206387 CD300E CD300e molecule gene DOID:630 genetic disease ISO RGD:1605230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206413 PRSS2 serine protease 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:734183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12206413 PRSS2 serine protease 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:734183 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12206413 PRSS2 serine protease 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:734183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12206413 PRSS2 serine protease 2 gene DOID:11054 urinary bladder cancer ISO RGD:734183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15987713 12206413 PRSS2 serine protease 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:734183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12206413 PRSS2 serine protease 2 gene DOID:9870 galactosemia ISO RGD:734183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12206445 POLR3D RNA polymerase III subunit D gene DOID:630 genetic disease ISO RGD:1323468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206445 POLR3D RNA polymerase III subunit D gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1323468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12206485 ZNF835 zinc finger protein 835 gene DOID:630 genetic disease ISO RGD:1602312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206537 APOL5 apolipoprotein L5 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1347333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12206537 APOL5 apolipoprotein L5 gene DOID:630 genetic disease ISO RGD:1347333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206558 DAXX death domain associated protein gene DOID:0050553 JMP syndrome ISO RGD:1345950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12206558 DAXX death domain associated protein gene DOID:0050866 oral squamous cell carcinoma ameliorates ISO RGD:1345950 D RGD:9068941 20220428 RGD human cell line in a mouse model PMID:26205068|REF_RGD_ID:152025200 12206558 DAXX death domain associated protein gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1345950 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 12206558 DAXX death domain associated protein gene DOID:0080521 lung non-squamous non-small cell carcinoma exacerbates ISO RGD:1345950 D RGD:9068941 20220428 RGD protein:decreased expression:lung (human) PMID:28004751|REF_RGD_ID:152025202 12206558 DAXX death domain associated protein gene DOID:10283 prostate cancer disease_progression ISO RGD:1345950 D RGD:9068941 20200609 RGD PMID:23642739|REF_RGD_ID:9587815 12206558 DAXX death domain associated protein gene DOID:10534 stomach cancer disease_progression ISO RGD:1345950 D RGD:9068941 20220428 RGD protein:decreased expression:stomach (human) PMID:32203224|REF_RGD_ID:152025201 12206558 DAXX death domain associated protein gene DOID:10534 stomach cancer exacerbates ISO RGD:1345950 D RGD:9068941 20220428 RGD protein:decreased expression:cytoplasm (human) PMID:28812328|REF_RGD_ID:152025197 12206558 DAXX death domain associated protein gene DOID:10534 stomach cancer severity ISO RGD:1345950 D RGD:9068941 20220428 RGD protein:altered expression:nucleus, cytoplasm (human) PMID:32641734|REF_RGD_ID:152025196 12206558 DAXX death domain associated protein gene DOID:11240 appendiceal neoplasm ISO RGD:1345950 D RGD:9068941 20220429 RGD DNA:CNV: (human) PMID:30962504|REF_RGD_ID:152025217 12206558 DAXX death domain associated protein gene DOID:1240 leukemia ISO RGD:1345950 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow: PMID:17306074|REF_RGD_ID:9587840 12206558 DAXX death domain associated protein gene DOID:169 neuroendocrine tumor ISO RGD:1345950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21252315 12206558 DAXX death domain associated protein gene DOID:169 neuroendocrine tumor severity ISO RGD:1345950 D RGD:9068941 20200609 RGD PMID:23954140|REF_RGD_ID:9587816 12206558 DAXX death domain associated protein gene DOID:1793 pancreatic cancer ISO RGD:1345950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21252315 12206558 DAXX death domain associated protein gene DOID:1798 pancreatic endocrine carcinoma disease_progression ISO RGD:1345950 D RGD:9068941 20220428 RGD DNA:frameshift, frameshift mutations, nonsense mutation, missense mutations:CDS:multiple (human) PMID:29212165|REF_RGD_ID:152025205 12206558 DAXX death domain associated protein gene DOID:1799 islet cell tumor disease_progression ISO RGD:1345950 D RGD:9068941 20200609 RGD PMID:21252315|REF_RGD_ID:9587819 12206558 DAXX death domain associated protein gene DOID:2152 ovary epithelial cancer ISO RGD:1345950 D RGD:9068941 20200609 RGD PMID:23539629|REF_RGD_ID:9587820 12206558 DAXX death domain associated protein gene DOID:224 transient cerebral ischemia ISO RGD:621227 D RGD:9068941 20220527 RGD mRNA,protein:increased expression:cerebral cortex: PMID:18096138|REF_RGD_ID:4142863 12206558 DAXX death domain associated protein gene DOID:224 transient cerebral ischemia treatment ISO RGD:621227 D RGD:9068941 20200609 RGD PMID:17967739|REF_RGD_ID:9587802 12206558 DAXX death domain associated protein gene DOID:234 colon adenocarcinoma ISO RGD:1345950 D RGD:9068941 20200609 RGD protein:decreased expression:colon: PMID:16569639|REF_RGD_ID:9587838 12206558 DAXX death domain associated protein gene DOID:2671 transitional cell carcinoma ISO RGD:1345950 D RGD:9068941 20200609 RGD PMID:23819605|REF_RGD_ID:9587843 12206558 DAXX death domain associated protein gene DOID:3948 adrenocortical carcinoma ISO RGD:1345950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747642 12206558 DAXX death domain associated protein gene DOID:4468 clear cell adenocarcinoma ISO RGD:1345950 D RGD:9068941 20200609 RGD protein:increased expression:ovary: PMID:23539629|REF_RGD_ID:9587820 12206558 DAXX death domain associated protein gene DOID:630 genetic disease ISO RGD:1345950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206558 DAXX death domain associated protein gene DOID:9000558 Mucinous Cystadenoma ISO RGD:1345950 D RGD:9068941 20200609 RGD protein:increased expression:ovary: PMID:23539629|REF_RGD_ID:9587820 12206558 DAXX death domain associated protein gene DOID:9000659 Heavy Metal Toxicity ISO RGD:621227 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:17692352|REF_RGD_ID:9587799 12206558 DAXX death domain associated protein gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345950 D RGD:9068941 20200609 RGD PMID:23539629|REF_RGD_ID:9587820 12206558 DAXX death domain associated protein gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:621227 D RGD:9068941 20200609 RGD PMID:21843499|REF_RGD_ID:9587791 12206558 DAXX death domain associated protein gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1345950 D RGD:9068941 20200609 RGD protein:increased expression:ovary: PMID:23539629|REF_RGD_ID:9587820 12206558 DAXX death domain associated protein gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor severity ISO RGD:1345950 D RGD:9068941 20210625 RGD PMID:26026117|REF_RGD_ID:127285385 12206558 DAXX death domain associated protein gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1345950 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:18480747|REF_RGD_ID:9587836 12206558 DAXX death domain associated protein gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:732822 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:18480747|REF_RGD_ID:9587836 12206558 DAXX death domain associated protein gene DOID:9006618 Liver Metastasis ISO RGD:1345950 D RGD:9068941 20220428 RGD associated with pancreatic endocrine carcinoma;DNA:mutations:CDS:multiple (human) PMID:30339629|REF_RGD_ID:152025203 12206558 DAXX death domain associated protein gene DOID:9006618 Liver Metastasis exacerbates ISO RGD:1345950 D RGD:9068941 20220428 RGD associated with colon cancer; mRNA:decreased expression:liver (human) PMID:31942198|REF_RGD_ID:152025194 12206558 DAXX death domain associated protein gene DOID:9006618 Liver Metastasis exacerbates ISO RGD:1345950 D RGD:9068941 20220428 RGD associated with neuroendocrine tumor;DNA:mutations:CDS:multiple (human) PMID:30342802|REF_RGD_ID:152025199 12206558 DAXX death domain associated protein gene DOID:9008844 Serous Cystadenoma ISO RGD:1345950 D RGD:9068941 20200609 RGD protein:increased expression:ovary: PMID:23539629|REF_RGD_ID:9587820 12206579 CNDP1 carnosine dipeptidase 1 gene DOID:0060177 homocarnosinosis ISO RGD:1344598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4172777 12206579 CNDP1 carnosine dipeptidase 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1344598 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12206579 CNDP1 carnosine dipeptidase 1 gene DOID:1059 intellectual disability ISO RGD:1344598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 12206579 CNDP1 carnosine dipeptidase 1 gene DOID:2921 glomerulonephritis ISO RGD:1344598 D RGD:9068941 20200609 RGD PMID:20851293|REF_RGD_ID:7207223 12206579 CNDP1 carnosine dipeptidase 1 gene DOID:630 genetic disease ISO RGD:1344598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206579 CNDP1 carnosine dipeptidase 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1344598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12206579 CNDP1 carnosine dipeptidase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1344598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12206579 CNDP1 carnosine dipeptidase 1 gene DOID:8445 intestinal volvulus ISO RGD:1344598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12206579 CNDP1 carnosine dipeptidase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12206579 CNDP1 carnosine dipeptidase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1344598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17942768|PMID:21393041|PMID:21573905 12206579 CNDP1 carnosine dipeptidase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1344598 D RGD:9068941 20200609 RGD PMID:21393041|REF_RGD_ID:7207213 12206579 CNDP1 carnosine dipeptidase 1 gene DOID:9003814 Neurologic Manifestations ISO RGD:1344598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4673339 12206579 CNDP1 carnosine dipeptidase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12206579 CNDP1 carnosine dipeptidase 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1344598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12206579 CNDP1 carnosine dipeptidase 1 gene DOID:9650 pathologic nystagmus ISO RGD:1344598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:25741868 12206598 WDR48 WD repeat domain 48 gene DOID:1561 cognitive disorder ISO RGD:1347511 D RGD:9068941 20230406 CTD CTD Direct Evidence: therapeutic PMID:36047109 12206598 WDR48 WD repeat domain 48 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28832565 12206598 WDR48 WD repeat domain 48 gene DOID:630 genetic disease ISO RGD:1347511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206621 CABP4 calcium binding protein 4 gene DOID:0050534 congenital stationary night blindness ISO RGD:1314493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive | ClinVar Annotator: match by term: Congenital stationary night blindness PMID:25741868|PMID:28492532 12206621 CABP4 calcium binding protein 4 gene DOID:0050572 cone-rod dystrophy ISO RGD:1314493 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:19074807|PMID:23714322|PMID:25307992|PMID:25741868|PMID:28492532|PMID:29525873|PMID:29706639|PMID:30718709 12206621 CABP4 calcium binding protein 4 gene DOID:0050630 Aland Island eye disease ISO RGD:1314493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ocular albinism, type II PMID:30718709 12206621 CABP4 calcium binding protein 4 gene DOID:0050795 cone dystrophy ISO RGD:1314493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25307992|PMID:25741868|PMID:28041643|PMID:28341476|PMID:28492532|PMID:29525873 12206621 CABP4 calcium binding protein 4 gene DOID:0080600 COVID-19 ISO RGD:1314493 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12206621 CABP4 calcium binding protein 4 gene DOID:1059 intellectual disability ISO RGD:1314493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12206621 CABP4 calcium binding protein 4 gene DOID:13911 achromatopsia ISO RGD:1314493 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:19074807|PMID:23714322|PMID:25307992|PMID:25741868|PMID:28492532|PMID:29525873|PMID:29706639|PMID:30718709 12206621 CABP4 calcium binding protein 4 gene DOID:630 genetic disease ISO RGD:1314493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12206621 CABP4 calcium binding protein 4 gene DOID:8501 fundus dystrophy ISO RGD:1314493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25307992|PMID:25741868|PMID:28041643|PMID:28341476|PMID:28492532|PMID:29525873|PMID:30718709 12206621 CABP4 calcium binding protein 4 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1314493 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12206621 CABP4 calcium binding protein 4 gene DOID:9004066 Congenital Stationary Night Blindness 2B ISO RGD:1314493 D RGD:7240710 20180130 OMIM 12206621 CABP4 calcium binding protein 4 gene DOID:9004066 Congenital Stationary Night Blindness 2B ISO RGD:1314493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod synaptic disorder, congenital nonprogressive PMID:16960802|PMID:19074807|PMID:20157620|PMID:23099293|PMID:23714322|PMID:25258313|PMID:25307992|PMID:25741868|PMID:26234941|PMID:28041643|PMID:28341476|PMID:28492532|PMID:29525873|PMID:29706639|PMID:30718709 12206621 CABP4 calcium binding protein 4 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1314493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12206629 OR10X1 olfactory receptor family 10 subfamily X member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1342523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12206629 OR10X1 olfactory receptor family 10 subfamily X member 1 gene DOID:630 genetic disease ISO RGD:1342523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206629 OR10X1 olfactory receptor family 10 subfamily X member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1342523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12206634 SLBP stem-loop binding protein gene DOID:12270 coloboma ISO RGD:1350910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30695021 12206634 SLBP stem-loop binding protein gene DOID:1856 cherubism ISO RGD:1350910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12206634 SLBP stem-loop binding protein gene DOID:5723 optic atrophy ISO RGD:1350910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30695021 12206634 SLBP stem-loop binding protein gene DOID:630 genetic disease ISO RGD:1350910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206634 SLBP stem-loop binding protein gene DOID:9006597 Retinal Dysplasia ISO RGD:1350910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30695021 12206646 MEDAG mesenteric estrogen dependent adipogenesis gene DOID:630 genetic disease ISO RGD:1605918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206659 RPS6KA4 ribosomal protein S6 kinase A4 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1316377 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12206659 RPS6KA4 ribosomal protein S6 kinase A4 gene DOID:1059 intellectual disability ISO RGD:1316377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12206659 RPS6KA4 ribosomal protein S6 kinase A4 gene DOID:3070 high grade glioma ISO RGD:1316377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12206659 RPS6KA4 ribosomal protein S6 kinase A4 gene DOID:630 genetic disease ISO RGD:1316377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206680 FBXO36 F-box protein 36 gene DOID:630 genetic disease ISO RGD:1317314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206702 ANP32E acidic nuclear phosphoprotein 32 family member E gene DOID:0111940 immunodeficiency 42 ISO RGD:1321615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12206702 ANP32E acidic nuclear phosphoprotein 32 family member E gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1321615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12206702 ANP32E acidic nuclear phosphoprotein 32 family member E gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1321615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12206702 ANP32E acidic nuclear phosphoprotein 32 family member E gene DOID:1540 parathyroid carcinoma ISO RGD:1321615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12206702 ANP32E acidic nuclear phosphoprotein 32 family member E gene DOID:5812 MHC class II deficiency ISO RGD:1321615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12206702 ANP32E acidic nuclear phosphoprotein 32 family member E gene DOID:630 genetic disease ISO RGD:1321615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206702 ANP32E acidic nuclear phosphoprotein 32 family member E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12206766 TNNT2 troponin T2, cardiac type gene DOID:0050469 Costello syndrome ISO RGD:732398 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Costello syndrome PMID:10085122|PMID:10405326|PMID:10610467|PMID:10617660|PMID:11432788|PMID:12860912|PMID:12881443|PMID:12974739|PMID:14563299|PMID:14636924|PMID:15246915|PMID:15958377|PMID:16115869|PMID:16199542|PMID:16715312|PMID:16777946|PMID:17101185|PMID:18533079|PMID:19033660|PMID:19150014|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20624503|PMID:20800588|PMID:21310275|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22144547|PMID:22500102|PMID:22857948|PMID:23074333|PMID:23283745|PMID:24033266|PMID:24055113|PMID:24418317|PMID:24793961|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25741868|PMID:26183555|PMID:26507537|PMID:26681313|PMID:26743238|PMID:26914223|PMID:27022107|PMID:27483260|PMID:27600940|PMID:27930701|PMID:28193612|PMID:28492532|PMID:28771489|PMID:29121657|PMID:2946667|PMID:30762279|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:33148509|PMID:34008892|PMID:7898523 12206766 TNNT2 troponin T2, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:732398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10529204|PMID:10610467|PMID:10617660|PMID:10850966|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11106718|PMID:11113119|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:11773635|PMID:12186860|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16115869|PMID:16199542|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17456375|PMID:17576681|PMID:17932326|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19412328|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20079745|PMID:20083571|PMID:20215591|PMID:20439259|PMID:20458009|PMID:20530761|PMID:20624503|PMID:20800588|PMID:20973921|PMID:20978592|PMID:21245263|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23383212|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24367593|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25086479|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:25849606|PMID:26084686|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:27022107|PMID:27036851|PMID:27082122|PMID:27153395|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27841901|PMID:27930701|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:2946667|PMID:29661763|PMID:29773157|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31737537|PMID:31918855|PMID:32581830|PMID:32690703|PMID:33025817|PMID:33148509|PMID:34008892|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9140840|PMID:9154300|PMID:9536098|PMID:9637714|PMID:9714088 12206766 TNNT2 troponin T2, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:732398 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Hypokinetic non-dilated cardiomyopathy PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10529204|PMID:10610467|PMID:10617660|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11113119|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17456375|PMID:17576681|PMID:17932326|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19412328|PMID:19466586|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20083571|PMID:20215591|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20800588|PMID:20973921|PMID:21245263|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22337857|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24367593|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25086479|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:25849606|PMID:26084686|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27082122|PMID:27153395|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27841901|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28706299|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:2946667|PMID:29661763|PMID:29773157|PMID:29988065|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31648988|PMID:31737537|PMID:31918855|PMID:31983221|PMID:32344918|PMID:32492895|PMID:32581830|PMID:32659924|PMID:32690703|PMID:32815737|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33148509|PMID:33223521|PMID:33297573|PMID:34008892|PMID:34135346|PMID:34213952|PMID:34350506|PMID:34426522|PMID:34540771|PMID:34699384|PMID:34853230|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9140840|PMID:9154300|PMID:9536098|PMID:9637714|PMID:9714088 12206766 TNNT2 troponin T2, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:732398 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Hypokinetic non-dilated cardiomyopathy PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10529204|PMID:10610467|PMID:10617660|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11113119|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17456375|PMID:17576681|PMID:17932326|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18612386|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19412328|PMID:19466586|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20083571|PMID:20215591|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20800588|PMID:20973921|PMID:21245263|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24367593|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25086479|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:25849606|PMID:26084686|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27082122|PMID:27153395|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27841901|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28706299|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:2946667|PMID:29661763|PMID:29773157|PMID:29988065|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31648988|PMID:31737537|PMID:31918855|PMID:31983221|PMID:32098556|PMID:32344918|PMID:32492895|PMID:32581830|PMID:32659924|PMID:32690703|PMID:32815737|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33148509|PMID:33223521|PMID:33297573|PMID:34008892|PMID:34135346|PMID:34213952|PMID:34350506|PMID:34426522|PMID:34540771|PMID:34699384|PMID:34853230|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9140840|PMID:9154300|PMID:9536098|PMID:9637714|PMID:9714088 12206766 TNNT2 troponin T2, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:732398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10529204|PMID:10610467|PMID:10617660|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11106718|PMID:11113119|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:11773635|PMID:12186860|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17456375|PMID:17576681|PMID:17932326|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18612386|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19412328|PMID:19466586|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20079745|PMID:20083571|PMID:20215591|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20800588|PMID:20973921|PMID:20978592|PMID:21245263|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23383212|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24367593|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25086479|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:25849606|PMID:26084686|PMID:26183555|PMID:26468400|PMID:26498512|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27082122|PMID:27153395|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27841901|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28706299|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:2946667|PMID:29540472|PMID:29661763|PMID:29773157|PMID:29988065|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31648988|PMID:31737537|PMID:31918855|PMID:31983221|PMID:32041989|PMID:32098556|PMID:32344918|PMID:32492895|PMID:32581830|PMID:32659924|PMID:32690703|PMID:32746448|PMID:32815737|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33148509|PMID:33223521|PMID:33297573|PMID:33500567|PMID:34008892|PMID:34135346|PMID:34213952|PMID:34350506|PMID:34426522|PMID:34540771|PMID:34699384|PMID:34853230|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9140840|PMID:9154300|PMID:9536098|PMID:9637714|PMID:9714088 12206766 TNNT2 troponin T2, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:732398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Hypokinetic non-dilated cardiomyopathy PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10529204|PMID:10610467|PMID:10617660|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11106718|PMID:11113119|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:11773635|PMID:12186860|PMID:12409295|PMID:12707239|PMID:12746413|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17456375|PMID:17576681|PMID:17932326|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18612386|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19412328|PMID:19466586|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20079745|PMID:20083571|PMID:20215591|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20800588|PMID:20973921|PMID:20978592|PMID:21245263|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22579624|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23383212|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24367593|PMID:24418317|PMID:24480310|PMID:24503780|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25086479|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:25849606|PMID:26084686|PMID:26183555|PMID:26468400|PMID:26498512|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27082122|PMID:27153395|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27841901|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28706299|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:29398688|PMID:2946667|PMID:29540472|PMID:29661763|PMID:29773157|PMID:29988065|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31648988|PMID:31737537|PMID:31918855|PMID:31983221|PMID:32041989|PMID:32098556|PMID:32344918|PMID:32492895|PMID:32581830|PMID:32659924|PMID:32690703|PMID:32746448|PMID:32815737|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33148509|PMID:33223521|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33673806|PMID:34008892|PMID:34135346|PMID:34213952|PMID:34350506|PMID:34426522|PMID:34540771|PMID:34699384|PMID:34853230|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9140840|PMID:9154300|PMID:9536098|PMID:9637714|PMID:9714088 12206766 TNNT2 troponin T2, cardiac type gene DOID:0060480 left ventricular noncompaction ISO RGD:732398 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:22958901|PMID:24033266|PMID:25741868|PMID:33500567|PMID:34691145|PMID:34697415 12206766 TNNT2 troponin T2, cardiac type gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:732398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10610467|PMID:10617660|PMID:10978365|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11968089|PMID:12084606|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12860912|PMID:12881443|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15519027|PMID:15542288|PMID:15631686|PMID:15958377|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16326803|PMID:16715312|PMID:16754800|PMID:16777946|PMID:16858239|PMID:17101185|PMID:17612745|PMID:18029407|PMID:18403758|PMID:18533079|PMID:18612386|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19275886|PMID:19412328|PMID:19645627|PMID:19880069|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20215591|PMID:20414521|PMID:20439259|PMID:20530761|PMID:20624503|PMID:20800588|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22321274|PMID:22334656|PMID:22455086|PMID:22500102|PMID:22579624|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23494605|PMID:23674365|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:25086479|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25741868|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27074551|PMID:27082122|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27600940|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28973083|PMID:29121657|PMID:2946667|PMID:29661763|PMID:29907873|PMID:30165862|PMID:30297972|PMID:30565988|PMID:30762279|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31737537|PMID:32098556|PMID:32344918|PMID:32492895|PMID:32815737|PMID:33025817|PMID:33148509|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34008892|PMID:34426522|PMID:34699384|PMID:7898523|PMID:8205619|PMID:8951566|PMID:9060892|PMID:9140840|PMID:9201030 12206766 TNNT2 troponin T2, cardiac type gene DOID:0080600 COVID-19 severity ISO RGD:732398 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32297828|REF_RGD_ID:32716368 12206766 TNNT2 troponin T2, cardiac type gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732398 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10610467|PMID:10617660|PMID:10978365|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11968089|PMID:12084606|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12860912|PMID:12881443|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15519027|PMID:15542288|PMID:15631686|PMID:15958377|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16326803|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17612745|PMID:18029407|PMID:18403758|PMID:18533079|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19275886|PMID:19412328|PMID:19645627|PMID:19880069|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20215591|PMID:20414521|PMID:20439259|PMID:20624503|PMID:20800588|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22321274|PMID:22334656|PMID:22455086|PMID:22500102|PMID:22579624|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23494605|PMID:23674365|PMID:23711808|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:25086479|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25741868|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27074551|PMID:27082122|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27600940|PMID:27707468|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28973083|PMID:29121657|PMID:2946667|PMID:29661763|PMID:29907873|PMID:30165862|PMID:30297972|PMID:30565988|PMID:30762279|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31941943|PMID:32290750|PMID:32344918|PMID:32492895|PMID:32815737|PMID:33025817|PMID:33148509|PMID:33297573|PMID:33559798|PMID:34008892|PMID:34426522|PMID:34699384|PMID:7898523|PMID:8205619|PMID:8951566|PMID:9060892|PMID:9140840|PMID:9154300|PMID:9201030 12206766 TNNT2 troponin T2, cardiac type gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732398 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10610467|PMID:10617660|PMID:10978365|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11968089|PMID:12084606|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12860912|PMID:12881443|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15519027|PMID:15542288|PMID:15631686|PMID:15958377|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16326803|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17612745|PMID:18029407|PMID:18403758|PMID:18533079|PMID:18612386|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19275886|PMID:19412328|PMID:19645627|PMID:19880069|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20215591|PMID:20414521|PMID:20439259|PMID:20624503|PMID:20800588|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22321274|PMID:22334656|PMID:22455086|PMID:22500102|PMID:22579624|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23494605|PMID:23674365|PMID:23711808|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:25086479|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25741868|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27074551|PMID:27082122|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27600940|PMID:27707468|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28973083|PMID:29121657|PMID:2946667|PMID:29661763|PMID:29907873|PMID:30165862|PMID:30297972|PMID:30565988|PMID:30762279|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31941943|PMID:32098556|PMID:32290750|PMID:32344918|PMID:32492895|PMID:32815737|PMID:33025817|PMID:33148509|PMID:33297573|PMID:33559798|PMID:34008892|PMID:34426522|PMID:34699384|PMID:7898523|PMID:8205619|PMID:8951566|PMID:9060892|PMID:9140840|PMID:9154300|PMID:9201030 12206766 TNNT2 troponin T2, cardiac type gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732398 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10610467|PMID:10617660|PMID:10978365|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11968089|PMID:12084606|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12860912|PMID:12881443|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15519027|PMID:15542288|PMID:15631686|PMID:15958377|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16326803|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17612745|PMID:18029407|PMID:18403758|PMID:18533079|PMID:18612386|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19275886|PMID:19412328|PMID:19645627|PMID:19880069|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20215591|PMID:20414521|PMID:20439259|PMID:20624503|PMID:20800588|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22321274|PMID:22334656|PMID:22455086|PMID:22500102|PMID:22579624|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23494605|PMID:23674365|PMID:23711808|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:25086479|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25741868|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27074551|PMID:27082122|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27600940|PMID:27707468|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28973083|PMID:29121657|PMID:2946667|PMID:29661763|PMID:29907873|PMID:30165862|PMID:30297972|PMID:30565988|PMID:30762279|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31941943|PMID:32098556|PMID:32290750|PMID:32344918|PMID:32492895|PMID:32815737|PMID:33025817|PMID:33148509|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33559798|PMID:33673806|PMID:34008892|PMID:34426522|PMID:34699384|PMID:7898523|PMID:8205619|PMID:8951566|PMID:9060892|PMID:9140840|PMID:9154300|PMID:9201030 12206766 TNNT2 troponin T2, cardiac type gene DOID:0110308 hypertrophic cardiomyopathy 2 ISO RGD:732398 D RGD:7240710 20180130 OMIM 12206766 TNNT2 troponin T2, cardiac type gene DOID:0110308 hypertrophic cardiomyopathy 2 ISO RGD:732398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 2 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2 PMID:10085122|PMID:10405326|PMID:10449439|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10529204|PMID:10610467|PMID:10617660|PMID:10850966|PMID:10978365|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11106718|PMID:11113119|PMID:11158969|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:11773635|PMID:11968089|PMID:12084606|PMID:12186860|PMID:12409295|PMID:12473556|PMID:12707239|PMID:12746413|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16326803|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17278368|PMID:17456375|PMID:17576681|PMID:17612745|PMID:17932326|PMID:18029407|PMID:18056765|PMID:18154728|PMID:18258667|PMID:18349139|PMID:18403758|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18612386|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19061534|PMID:19087273|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19324435|PMID:19412328|PMID:19466586|PMID:19487599|PMID:19645627|PMID:19659763|PMID:19754353|PMID:19880069|PMID:19914256|PMID:2003160|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20079745|PMID:20083571|PMID:20159828|PMID:20215591|PMID:20298698|PMID:20414521|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20800588|PMID:20973921|PMID:20978592|PMID:21185001|PMID:21245263|PMID:21310275|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21511876|PMID:21551322|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22334656|PMID:22337857|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22517884|PMID:22579624|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23383212|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23785128|PMID:23861362|PMID:23897817|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24418317|PMID:24480310|PMID:24503780|PMID:24691700|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25031304|PMID:25086479|PMID:25132132|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:25849606|PMID:26084686|PMID:26095046|PMID:26183555|PMID:26468400|PMID:26498512|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27036851|PMID:27074551|PMID:27082122|PMID:27153395|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27707468|PMID:27757084|PMID:27841901|PMID:27930701|PMID:28073646|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28246128|PMID:28255936|PMID:28352236|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28566242|PMID:28588840|PMID:28669108|PMID:28706299|PMID:28735292|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29016939|PMID:29121657|PMID:29247119|PMID:29367539|PMID:29367541|PMID:29398688|PMID:2946667|PMID:29540472|PMID:29661763|PMID:29773157|PMID:29892087|PMID:29907873|PMID:29988065|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31373515|PMID:31513939|PMID:31514951|PMID:31648988|PMID:31737537|PMID:31918855|PMID:31937807|PMID:31941943|PMID:31983221|PMID:32041989|PMID:32098556|PMID:32290750|PMID:32344918|PMID:32492895|PMID:32581830|PMID:32618513|PMID:32659924|PMID:32690703|PMID:32746448 12206766 TNNT2 troponin T2, cardiac type gene DOID:0110308 hypertrophic cardiomyopathy 2 ISO RGD:732398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 2 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2 PMID:32815737|PMID:32846832|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33087929|PMID:33148509|PMID:33223521|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33559798|PMID:33673806|PMID:34008892|PMID:34036930|PMID:34135346|PMID:34161147|PMID:34213952|PMID:34350506|PMID:34426522|PMID:34540771|PMID:34699384|PMID:34853230|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9060892|PMID:9140840|PMID:9154300|PMID:9201030|PMID:9536098|PMID:9637714|PMID:9714088|PMID:9788962 12206766 TNNT2 troponin T2, cardiac type gene DOID:0110426 dilated cardiomyopathy 1D ISO RGD:732398 D RGD:7240710 20180130 OMIM 12206766 TNNT2 troponin T2, cardiac type gene DOID:0110426 dilated cardiomyopathy 1D ISO RGD:732398 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1D | ClinVar Annotator: match by term: Left ventricular noncompaction 6 PMID:10085122|PMID:10405326|PMID:10449439|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10529204|PMID:10610467|PMID:10617660|PMID:10978365|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11113119|PMID:11158969|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:11968089|PMID:12084606|PMID:12186860|PMID:12409295|PMID:12473556|PMID:12707239|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16326803|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17278368|PMID:17456375|PMID:17576681|PMID:17612745|PMID:17932326|PMID:18029407|PMID:18056765|PMID:18154728|PMID:18258667|PMID:18349139|PMID:18403758|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18612386|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19087273|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19324435|PMID:19412328|PMID:19466586|PMID:19487599|PMID:19645627|PMID:19754353|PMID:19880069|PMID:19914256|PMID:2003160|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20083571|PMID:20159828|PMID:20215591|PMID:20298698|PMID:20414521|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20800588|PMID:20973921|PMID:21245263|PMID:21310275|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21511876|PMID:21551322|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22334656|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22517884|PMID:22579624|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24418317|PMID:24480310|PMID:24503780|PMID:24691700|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25031304|PMID:25086479|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:26084686|PMID:26095046|PMID:26183555|PMID:26468400|PMID:26498512|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27036851|PMID:27074551|PMID:27082122|PMID:27153395|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27707468|PMID:27757084|PMID:27841901|PMID:27930701|PMID:28073646|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28246128|PMID:28255936|PMID:28352236|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28566242|PMID:28588840|PMID:28669108|PMID:28706299|PMID:28735292|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:29398688|PMID:2946667|PMID:29661763|PMID:29773157|PMID:29892087|PMID:29907873|PMID:29988065|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31373515|PMID:31513939|PMID:31514951|PMID:31648988|PMID:31737537|PMID:31918855|PMID:31937807|PMID:31941943|PMID:31983221|PMID:32098556|PMID:32290750|PMID:32344918|PMID:32492895|PMID:32581830|PMID:32618513|PMID:32690703|PMID:32746448|PMID:32815737|PMID:32846832|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33148509|PMID:33223521|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33559798|PMID:33673806|PMID:34008892|PMID:34135346|PMID:34213952|PMID:34350506|PMID:34426522|PMID:34540771|PMID:34699384 12206766 TNNT2 troponin T2, cardiac type gene DOID:0110426 dilated cardiomyopathy 1D ISO RGD:732398 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1D | ClinVar Annotator: match by term: Left ventricular noncompaction 6 PMID:34853230|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9060892|PMID:9140840|PMID:9201030|PMID:9536098|PMID:9637714|PMID:9714088|PMID:9788962 12206766 TNNT2 troponin T2, cardiac type gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:732398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:15542288|PMID:16199547|PMID:19412328|PMID:20031601|PMID:20215591|PMID:20973921|PMID:21483645|PMID:23349452|PMID:24033266|PMID:24503780|PMID:25448463|PMID:25524337|PMID:25741868|PMID:26084686|PMID:26498512|PMID:26779504|PMID:27411801|PMID:27532257|PMID:27576561|PMID:28492532|PMID:29367539|PMID:29773157|PMID:30847666|PMID:31983221|PMID:32746448 12206766 TNNT2 troponin T2, cardiac type gene DOID:0110447 dilated cardiomyopathy 1DD ISO RGD:732398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:15358028|PMID:16199547|PMID:19754353|PMID:24033266|PMID:24992688|PMID:25741868|PMID:27153395|PMID:27532257|PMID:28492532|PMID:28973951|PMID:33025817|PMID:34213952|PMID:34540771 12206766 TNNT2 troponin T2, cardiac type gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:732398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S 12206766 TNNT2 troponin T2, cardiac type gene DOID:0110458 dilated cardiomyopathy 1BB ISO RGD:732398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy PMID:11684629|PMID:12923187|PMID:14654368|PMID:15623536|PMID:15769782|PMID:15923195|PMID:17932326|PMID:18349139|PMID:18506004|PMID:18606313|PMID:19253838|PMID:21846512|PMID:22675533|PMID:23539503|PMID:24033266|PMID:24367593|PMID:24992688|PMID:25611685|PMID:25681424|PMID:25741868|PMID:26656454|PMID:27532257|PMID:28492532 12206766 TNNT2 troponin T2, cardiac type gene DOID:0111427 restrictive cardiomyopathy 3 ISO RGD:732398 D RGD:7240710 20180130 OMIM 12206766 TNNT2 troponin T2, cardiac type gene DOID:0111427 restrictive cardiomyopathy 3 ISO RGD:732398 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 3 PMID:10085122|PMID:10405326|PMID:10449439|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10529204|PMID:10610467|PMID:10617660|PMID:10978365|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11113119|PMID:11158969|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:11968089|PMID:12084606|PMID:12186860|PMID:12409295|PMID:12473556|PMID:12707239|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16326803|PMID:16651346|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17278368|PMID:17456375|PMID:17576681|PMID:17612745|PMID:17932326|PMID:18029407|PMID:18032382|PMID:18056765|PMID:18154728|PMID:18258667|PMID:18403758|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18612386|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19087273|PMID:19150014|PMID:19275886|PMID:19324435|PMID:19412328|PMID:19466586|PMID:19487599|PMID:19645627|PMID:19754353|PMID:19880069|PMID:19914256|PMID:2003160|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20083571|PMID:20159828|PMID:20215591|PMID:20298698|PMID:20414521|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20624503|PMID:20800588|PMID:20973921|PMID:21245263|PMID:21310275|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21511876|PMID:21551322|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22334656|PMID:22337857|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22517884|PMID:22579624|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24418317|PMID:24480310|PMID:24503780|PMID:24691700|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25031304|PMID:25086479|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25741868|PMID:26084686|PMID:26095046|PMID:26183555|PMID:26468400|PMID:26498512|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27036851|PMID:27074551|PMID:27082122|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27707468|PMID:27757084|PMID:27841901|PMID:27930701|PMID:28073646|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28246128|PMID:28255936|PMID:28352236|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28566242|PMID:28588840|PMID:28669108|PMID:28706299|PMID:28735292|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:29398688|PMID:2946667|PMID:29661763|PMID:29773157|PMID:29892087|PMID:29907873|PMID:29988065|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31373515|PMID:31513939|PMID:31514951|PMID:31648988|PMID:31737537|PMID:31918855|PMID:31937807|PMID:31941943|PMID:31983221|PMID:32098556|PMID:32290750|PMID:32344918|PMID:32492895|PMID:32581830|PMID:32618513|PMID:32690703|PMID:32746448|PMID:32815737|PMID:32846832|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33148509|PMID:33223521|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33559798|PMID:33673806|PMID:34008892|PMID:34135346|PMID:34350506|PMID:34426522|PMID:34699384|PMID:34853230|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9060892|PMID:9140840|PMID:9201030|PMID:9536098|PMID:9637714 12206766 TNNT2 troponin T2, cardiac type gene DOID:0111427 restrictive cardiomyopathy 3 ISO RGD:732398 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 3 PMID:9788962 12206766 TNNT2 troponin T2, cardiac type gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:732398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12206766 TNNT2 troponin T2, cardiac type gene DOID:0111879 Diamond-Blackfan anemia 6 ISO RGD:732398 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 PMID:12707239|PMID:20038417|PMID:22857948|PMID:23396983|PMID:25741868|PMID:28492532|PMID:33025817 12206766 TNNT2 troponin T2, cardiac type gene DOID:114 heart disease ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17848144 12206766 TNNT2 troponin T2, cardiac type gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10085122|PMID:10405326|PMID:10449439|PMID:10521296|PMID:10525521|PMID:10529204|PMID:10610467|PMID:10617660|PMID:10850966|PMID:10978365|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11113119|PMID:11158969|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11968089|PMID:12084606|PMID:12186860|PMID:12409295|PMID:12473556|PMID:12707239|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15631686|PMID:15958377|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16326803|PMID:16715312|PMID:16777946|PMID:16858239|PMID:17101185|PMID:17456375|PMID:17576681|PMID:17612745|PMID:17932326|PMID:18029407|PMID:18258667|PMID:18403758|PMID:18533079|PMID:18612386|PMID:18651846|PMID:18809796|PMID:19033660|PMID:19087273|PMID:19150014|PMID:19487599|PMID:19880069|PMID:19914256|PMID:19996403|PMID:2003160|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20159828|PMID:20414521|PMID:20439259|PMID:20513729|PMID:20624503|PMID:20800588|PMID:21185001|PMID:21245263|PMID:21310275|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22144547|PMID:22321274|PMID:22334656|PMID:22500102|PMID:22579624|PMID:22675533|PMID:22857948|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23396983|PMID:23494605|PMID:23663841|PMID:23674365|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24367593|PMID:24418317|PMID:24691700|PMID:24793961|PMID:25031304|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25741868|PMID:25849606|PMID:26183555|PMID:26507537|PMID:26656175|PMID:26681313|PMID:26743238|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27036851|PMID:27483260|PMID:27532257|PMID:27600940|PMID:27707468|PMID:27930701|PMID:28073646|PMID:28193612|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28566242|PMID:28735292|PMID:28771489|PMID:28790153|PMID:28971120|PMID:28973951|PMID:29121657|PMID:2946667|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31941943|PMID:32290750|PMID:32581830|PMID:32690703|PMID:33025817|PMID:33148509|PMID:33297573|PMID:33559798|PMID:34008892|PMID:34426522|PMID:34699384|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9060892|PMID:9140840|PMID:9201030|PMID:9536098|PMID:9637714|PMID:9788962 12206766 TNNT2 troponin T2, cardiac type gene DOID:12716 newborn respiratory distress syndrome ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10789933 12206766 TNNT2 troponin T2, cardiac type gene DOID:1287 cardiovascular system disease ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14761428 12206766 TNNT2 troponin T2, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:732398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11684629|PMID:12818575|PMID:12881443|PMID:12923187|PMID:14636924|PMID:14654368|PMID:15464434|PMID:15542288|PMID:15623536|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:17101185|PMID:17278368|PMID:17932326|PMID:18056765|PMID:18154728|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18606313|PMID:19253838|PMID:19324435|PMID:19412328|PMID:20031601|PMID:20031618|PMID:20083571|PMID:20215591|PMID:20298698|PMID:20973921|PMID:21310275|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21551322|PMID:21846512|PMID:22292720|PMID:22464770|PMID:22517884|PMID:22675533|PMID:22958901|PMID:23074333|PMID:23349452|PMID:23539503|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24503780|PMID:24992688|PMID:25611685|PMID:25681424|PMID:25741868|PMID:26084686|PMID:26507537|PMID:26656454|PMID:26779504|PMID:27411801|PMID:27532257|PMID:27576561|PMID:27757084|PMID:28255936|PMID:28352236|PMID:28416588|PMID:28492532|PMID:28669108|PMID:29121657|PMID:29367539|PMID:29367541|PMID:29773157|PMID:30565988|PMID:31333075|PMID:31568572|PMID:7898523 12206766 TNNT2 troponin T2, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:732398 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11684629|PMID:12818575|PMID:12881443|PMID:12923187|PMID:14636924|PMID:14654368|PMID:15464434|PMID:15542288|PMID:15623536|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:17101185|PMID:17278368|PMID:17932326|PMID:18056765|PMID:18154728|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18606313|PMID:19253838|PMID:19324435|PMID:19412328|PMID:20031601|PMID:20031618|PMID:20083571|PMID:20215591|PMID:20298698|PMID:20973921|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21551322|PMID:21846512|PMID:22292720|PMID:22464770|PMID:22517884|PMID:22675533|PMID:22958901|PMID:23074333|PMID:23349452|PMID:23539503|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24503780|PMID:24992688|PMID:25611685|PMID:25681424|PMID:25741868|PMID:26084686|PMID:26507537|PMID:26656454|PMID:26779504|PMID:27153395|PMID:27411801|PMID:27532257|PMID:27576561|PMID:27757084|PMID:28255936|PMID:28352236|PMID:28416588|PMID:28492532|PMID:28669108|PMID:28973951|PMID:29367539|PMID:29367541|PMID:29773157|PMID:30565988|PMID:31333075|PMID:31568572|PMID:32659924|PMID:32690703|PMID:32880476|PMID:33025817|PMID:33297573|PMID:34213952|PMID:34540771|PMID:7898523 12206766 TNNT2 troponin T2, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:732398 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11684629|PMID:12818575|PMID:12881443|PMID:12923187|PMID:14636924|PMID:14654368|PMID:15464434|PMID:15542288|PMID:15623536|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:17101185|PMID:17278368|PMID:17932326|PMID:18056765|PMID:18154728|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18606313|PMID:19253838|PMID:19324435|PMID:19412328|PMID:20031601|PMID:20031618|PMID:20083571|PMID:20215591|PMID:20298698|PMID:20973921|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21551322|PMID:21846512|PMID:22292720|PMID:22464770|PMID:22517884|PMID:22675533|PMID:22958901|PMID:23074333|PMID:23349452|PMID:23539503|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24503780|PMID:24992688|PMID:25611685|PMID:25681424|PMID:25741868|PMID:26084686|PMID:26095046|PMID:26507537|PMID:26656454|PMID:26779504|PMID:27153395|PMID:27411801|PMID:27532257|PMID:27576561|PMID:27757084|PMID:28246128|PMID:28255936|PMID:28352236|PMID:28416588|PMID:28492532|PMID:28588840|PMID:28669108|PMID:28973951|PMID:29367539|PMID:29367541|PMID:29773157|PMID:30297972|PMID:30565988|PMID:30763825|PMID:30847666|PMID:30871747|PMID:31333075|PMID:31373515|PMID:31568572|PMID:31937807|PMID:31983221|PMID:32659924|PMID:32690703|PMID:32880476|PMID:33025817|PMID:33297573|PMID:34213952|PMID:34540771|PMID:34853230|PMID:7898523 12206766 TNNT2 troponin T2, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:732398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11684629|PMID:12818575|PMID:12881443|PMID:12923187|PMID:14636924|PMID:14654368|PMID:15464434|PMID:15542288|PMID:15623536|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:17101185|PMID:17278368|PMID:17932326|PMID:18056765|PMID:18154728|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18606313|PMID:19253838|PMID:19324435|PMID:19412328|PMID:20031601|PMID:20031618|PMID:20083571|PMID:20215591|PMID:20298698|PMID:20973921|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21551322|PMID:21846512|PMID:22292720|PMID:22464770|PMID:22517884|PMID:22675533|PMID:22958901|PMID:23074333|PMID:23349452|PMID:23539503|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24503780|PMID:24992688|PMID:25611685|PMID:25681424|PMID:25741868|PMID:26084686|PMID:26095046|PMID:26498512|PMID:26507537|PMID:26656454|PMID:26779504|PMID:27153395|PMID:27411801|PMID:27532257|PMID:27576561|PMID:27757084|PMID:28246128|PMID:28255936|PMID:28352236|PMID:28416588|PMID:28492532|PMID:28588840|PMID:28669108|PMID:28973951|PMID:29121657|PMID:29367539|PMID:29367541|PMID:29773157|PMID:30297972|PMID:30565988|PMID:30763825|PMID:30847666|PMID:30871747|PMID:31333075|PMID:31373515|PMID:31568572|PMID:31937807|PMID:31983221|PMID:32659924|PMID:32690703|PMID:32880476|PMID:33025817|PMID:33297573|PMID:34161147|PMID:34213952|PMID:34540771|PMID:34853230|PMID:7898523 12206766 TNNT2 troponin T2, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:732398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11684629|PMID:12818575|PMID:12881443|PMID:12923187|PMID:14636924|PMID:14654368|PMID:15464434|PMID:15542288|PMID:15623536|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:17101185|PMID:17278368|PMID:17932326|PMID:18056765|PMID:18154728|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18606313|PMID:19253838|PMID:19324435|PMID:19412328|PMID:20031601|PMID:20031618|PMID:20083571|PMID:20215591|PMID:20298698|PMID:20973921|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21551322|PMID:21846512|PMID:22292720|PMID:22464770|PMID:22517884|PMID:22675533|PMID:22958901|PMID:23074333|PMID:23349452|PMID:23539503|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24503780|PMID:24992688|PMID:25611685|PMID:25681424|PMID:25741868|PMID:26084686|PMID:26095046|PMID:26498512|PMID:26507537|PMID:26656454|PMID:26779504|PMID:27153395|PMID:27411801|PMID:27532257|PMID:27576561|PMID:27757084|PMID:28246128|PMID:28255936|PMID:28352236|PMID:28416588|PMID:28492532|PMID:28588840|PMID:28669108|PMID:28973951|PMID:29121657|PMID:29367539|PMID:29367541|PMID:29773157|PMID:30297972|PMID:30565988|PMID:30763825|PMID:30847666|PMID:30871747|PMID:31333075|PMID:31373515|PMID:31568572|PMID:31937807|PMID:31983221|PMID:32618513|PMID:32659924|PMID:32690703|PMID:32880476|PMID:33025817|PMID:33297573|PMID:34161147|PMID:34213952|PMID:34540771|PMID:34853230|PMID:7898523 12206766 TNNT2 troponin T2, cardiac type gene DOID:1540 parathyroid carcinoma ISO RGD:732398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12206766 TNNT2 troponin T2, cardiac type gene DOID:2752 glycogen storage disease II ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26787432 12206766 TNNT2 troponin T2, cardiac type gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18068611 12206766 TNNT2 troponin T2, cardiac type gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:732398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:14636924|PMID:16858239|PMID:18533079|PMID:25524337|PMID:25741868|PMID:27532257|PMID:28492532 12206766 TNNT2 troponin T2, cardiac type gene DOID:397 restrictive cardiomyopathy ISO RGD:732398 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:10525521|PMID:10978365|PMID:11606294|PMID:12818575|PMID:12881443|PMID:14636924|PMID:14654368|PMID:14722098|PMID:15542288|PMID:15958377|PMID:17101185|PMID:20031602|PMID:20624503|PMID:22112859|PMID:23283745|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24111713|PMID:25741868|PMID:27074551|PMID:28492532|PMID:29907873|PMID:7898523 12206766 TNNT2 troponin T2, cardiac type gene DOID:5844 myocardial infarction ISO RGD:732398 D RGD:9068941 20200609 RGD PMID:15226628|REF_RGD_ID:1580441 12206766 TNNT2 troponin T2, cardiac type gene DOID:6000 congestive heart failure ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12322705|PMID:17698733 12206766 TNNT2 troponin T2, cardiac type gene DOID:9000006 Supraventricular Tachycardia ISO RGD:732398 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:15631686|PMID:16754800|PMID:19645627|PMID:21846512|PMID:22017532|PMID:22455086|PMID:22958901|PMID:23233322|PMID:23299917|PMID:24033266|PMID:24055113|PMID:24503780|PMID:25351510|PMID:25637381|PMID:25741868|PMID:28087566|PMID:28492532|PMID:30871747 12206766 TNNT2 troponin T2, cardiac type gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:732398 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:12818575|PMID:12881443|PMID:14636924|PMID:15542288|PMID:15958377|PMID:17101185|PMID:17576681|PMID:22958901|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24503780|PMID:24992688|PMID:25741868|PMID:26507537|PMID:27153395|PMID:28255936|PMID:28492532|PMID:28973951|PMID:30297972|PMID:30763825|PMID:32880476|PMID:33025817|PMID:34213952|PMID:34540771|PMID:7898523|PMID:9536098 12206766 TNNT2 troponin T2, cardiac type gene DOID:9001686 Acute Coronary Syndrome ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15966572 12206766 TNNT2 troponin T2, cardiac type gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14618274 12206766 TNNT2 troponin T2, cardiac type gene DOID:9003936 Cardiomegaly ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17556660 12206766 TNNT2 troponin T2, cardiac type gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:732398 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12206766 TNNT2 troponin T2, cardiac type gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:732398 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Increased left ventricular wall thickness | ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:15631686|PMID:16754800|PMID:19645627|PMID:21846512|PMID:22017532|PMID:22455086|PMID:22958901|PMID:23233322|PMID:23299917|PMID:24033266|PMID:24055113|PMID:24503780|PMID:25351510|PMID:25637381|PMID:25741868|PMID:28087566|PMID:28492532|PMID:30871747 12206766 TNNT2 troponin T2, cardiac type gene DOID:9005141 Ventricular Tachycardia ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12600890 12206766 TNNT2 troponin T2, cardiac type gene DOID:9005749 Necrosis ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17848144 12206766 TNNT2 troponin T2, cardiac type gene DOID:9007102 Myocardial Ischemia ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10789933 12206766 TNNT2 troponin T2, cardiac type gene DOID:9007588 Heart Injuries ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19854236 12206766 TNNT2 troponin T2, cardiac type gene DOID:9007925 Sudden Cardiac Death ISO RGD:732398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:23233322|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532 12206766 TNNT2 troponin T2, cardiac type gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12206831 SPINT2 serine peptidase inhibitor, Kunitz type 2 gene DOID:0060781 congenital secretory sodium diarrhea 3 ISO RGD:1351424 D RGD:7240710 20180130 OMIM 12206831 SPINT2 serine peptidase inhibitor, Kunitz type 2 gene DOID:0060781 congenital secretory sodium diarrhea 3 ISO RGD:1351424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital secretory sodium diarrhea 3 PMID:11113072|PMID:17576681|PMID:17786112|PMID:19185281|PMID:20009592|PMID:23689399|PMID:24142340|PMID:25741868|PMID:28492532|PMID:30445423|PMID:9536098 12206831 SPINT2 serine peptidase inhibitor, Kunitz type 2 gene DOID:0080074 neural tube defect ISO RGD:1351424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24722141 12206831 SPINT2 serine peptidase inhibitor, Kunitz type 2 gene DOID:12236 primary biliary cholangitis ISO RGD:1552601 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:21898507|REF_RGD_ID:10043111 12206831 SPINT2 serine peptidase inhibitor, Kunitz type 2 gene DOID:13580 cholestasis ISO RGD:1552601 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:21898507|REF_RGD_ID:10043111 12206831 SPINT2 serine peptidase inhibitor, Kunitz type 2 gene DOID:13608 biliary atresia ISO RGD:1351424 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:21898507|REF_RGD_ID:10043111 12206831 SPINT2 serine peptidase inhibitor, Kunitz type 2 gene DOID:305 carcinoma ISO RGD:1351424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12206831 SPINT2 serine peptidase inhibitor, Kunitz type 2 gene DOID:630 genetic disease ISO RGD:1351424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12206831 SPINT2 serine peptidase inhibitor, Kunitz type 2 gene DOID:780 placenta disease ISO RGD:1351424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24722141 12206831 SPINT2 serine peptidase inhibitor, Kunitz type 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1351424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12206831 SPINT2 serine peptidase inhibitor, Kunitz type 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1351424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12206831 SPINT2 serine peptidase inhibitor, Kunitz type 2 gene DOID:9007023 Prenatal Injuries ISO RGD:1351424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24722141 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:0050553 JMP syndrome ISO RGD:736475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:0060009 MHC class I deficiency ISO RGD:736475 D RGD:7240710 20180130 OMIM 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:0060009 MHC class I deficiency ISO RGD:736475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar Annotator: match by term: MHC class I deficiency PMID:10074494|PMID:10074495|PMID:1570316|PMID:16299152|PMID:16624613|PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:3891604|PMID:8640228|PMID:9536098 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:10316 pneumoconiosis ISO RGD:736475 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:SNPs: :p. I333V, D637G (human) PMID:15887980|REF_RGD_ID:6482266 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:1205 allergic disease ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype: :p.V333I (human) PMID:11591192|REF_RGD_ID:8548785 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:1580 diffuse scleroderma susceptibility ISO RGD:736475 D RGD:9068941 20200609 RGD PMID:16112028|REF_RGD_ID:1578361 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:2841 asthma susceptibility ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:12640628|REF_RGD_ID:5147845 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:2957 pulmonary tuberculosis ISO RGD:736475 D RGD:9068941 20200609 RGD associated with HIV Infections; PMID:21843574|REF_RGD_ID:6482248 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736475 D RGD:9068941 20200609 RGD protein:decreased expression:esophagus PMID:19492245|REF_RGD_ID:6482249 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:4362 cervical cancer ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:18248301|REF_RGD_ID:6482260 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:4362 cervical cancer susceptibility ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:12648582|REF_RGD_ID:6482272 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:4483 rhinitis no_association ISO RGD:736475 D RGD:9068941 20200609 RGD PMID:12018331|REF_RGD_ID:6482274 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:4483 rhinitis susceptibility ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:17982230|REF_RGD_ID:6482262 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:5419 schizophrenia ISO RGD:736475 D RGD:9068941 20200609 RGD PMID:19217216|REF_RGD_ID:6482251 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:6196 reactive arthritis ISO RGD:736475 D RGD:9068941 20200609 RGD PMID:7748224|REF_RGD_ID:6482278 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:630 genetic disease ISO RGD:736475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:7147 ankylosing spondylitis ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:19480848|REF_RGD_ID:6482250 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:841 extrinsic allergic alveolitis susceptibility ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:P. D637G, P661P (human) PMID:18342853|REF_RGD_ID:5147840 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:8893 psoriasis susceptibility ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype:cds:p.I333V (1207A>G) (human) PMID:11194890|REF_RGD_ID:8548788 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:9002304 Prostatic Neoplasms ISO RGD:736475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:9002780 Recurrent Respiratory Papillomatosis severity ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.D637G(human) PMID:14976605|REF_RGD_ID:5147844 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:9007102 Myocardial Ischemia ISO RGD:736475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:9007557 Laryngeal Papillomatosis ISO RGD:736475 D RGD:9068941 20200609 RGD PMID:10618282|REF_RGD_ID:5147846 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:9008163 Chronic Hepatitis B ISO RGD:736475 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood PMID:21843574|REF_RGD_ID:6482248 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:736475 D RGD:9068941 20200609 RGD PMID:9014588|REF_RGD_ID:6482277 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:9563 bronchiectasis susceptibility ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p. I333V, D637G (human) PMID:17245734|REF_RGD_ID:5147842 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:9744 type 1 diabetes mellitus ISO RGD:11387 D RGD:9068941 20200609 RGD DNA:mutation:promoter (mouse) PMID:9300732|REF_RGD_ID:2312370 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:9744 type 1 diabetes mellitus ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:insertion:intron (human) PMID:9458110|REF_RGD_ID:2312369 12206842 TAP1 transporter 1, ATP binding cassette subfamily B member gene DOID:9744 type 1 diabetes mellitus ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:9129974|REF_RGD_ID:2312371 12206862 VPS45 vacuolar protein sorting 45 homolog gene DOID:0111940 immunodeficiency 42 ISO RGD:732754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12206862 VPS45 vacuolar protein sorting 45 homolog gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732754 D RGD:7240710 20180130 OMIM 12206862 VPS45 vacuolar protein sorting 45 homolog gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:17576681|PMID:23599270|PMID:23738510|PMID:25640679|PMID:25741868|PMID:26358756|PMID:28492532|PMID:30294941|PMID:32037586|PMID:9536098 12206862 VPS45 vacuolar protein sorting 45 homolog gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12206862 VPS45 vacuolar protein sorting 45 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:732754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12206862 VPS45 vacuolar protein sorting 45 homolog gene DOID:5812 MHC class II deficiency ISO RGD:732754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12206862 VPS45 vacuolar protein sorting 45 homolog gene DOID:630 genetic disease ISO RGD:732754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12206862 VPS45 vacuolar protein sorting 45 homolog gene DOID:9006561 Familial Myelofibrosis ISO RGD:732754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23599270 12206862 VPS45 vacuolar protein sorting 45 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12206884 COPB1 COPI coat complex subunit beta 1 gene DOID:0080006 bone development disease ISO RGD:731922 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia 12206884 COPB1 COPI coat complex subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:731922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12206884 COPB1 COPI coat complex subunit beta 1 gene DOID:630 genetic disease ISO RGD:731922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206884 COPB1 COPI coat complex subunit beta 1 gene DOID:83 cataract ISO RGD:731922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:33632302 12206884 COPB1 COPI coat complex subunit beta 1 gene DOID:9005123 Baralle-Macken Syndrome ISO RGD:731922 D RGD:7240710 20210414 OMIM 12206884 COPB1 COPI coat complex subunit beta 1 gene DOID:9005123 Baralle-Macken Syndrome ISO RGD:731922 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Baralle-Macken syndrome PMID:25741868|PMID:33632302 12206910 DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1347817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 12206910 DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 gene DOID:10283 prostate cancer ISO RGD:1347817 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:25466870|PMID:28940199 12206910 DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 gene DOID:630 genetic disease ISO RGD:1347817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206910 DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 gene DOID:9000609 Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus ISO RGD:1347817 D RGD:7240710 20180130 OMIM 12206910 DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 gene DOID:9000609 Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus ISO RGD:1347817 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus PMID:25466870|PMID:25741868|PMID:28940199|PMID:32738013|PMID:33486469 12206910 DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12206910 DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1347817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12206926 NDFIP1 Nedd4 family interacting protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1320732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12206926 NDFIP1 Nedd4 family interacting protein 1 gene DOID:630 genetic disease ISO RGD:1320732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206926 NDFIP1 Nedd4 family interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12206926 NDFIP1 Nedd4 family interacting protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12206926 NDFIP1 Nedd4 family interacting protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12206926 NDFIP1 Nedd4 family interacting protein 1 gene DOID:9007096 Stroke ISO RGD:1310053 D RGD:9068941 20200609 RGD PMID:22417925|REF_RGD_ID:6893327 12206937 EIF3I eukaryotic translation initiation factor 3 subunit I gene DOID:630 genetic disease ISO RGD:1350072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206937 EIF3I eukaryotic translation initiation factor 3 subunit I gene DOID:9002928 Colonic Neoplasms ISO RGD:1350072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24056964 12206937 EIF3I eukaryotic translation initiation factor 3 subunit I gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1350072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11830523|PMID:24056964 12206952 TBC1D1 TBC1 domain family member 1 gene DOID:0080205 CAKUT ISO RGD:1349688 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Non-syndromic renal or urinary tract malformation PMID:25741868 12206952 TBC1D1 TBC1 domain family member 1 gene DOID:630 genetic disease ISO RGD:1349688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206952 TBC1D1 TBC1 domain family member 1 gene DOID:9970 obesity ISO RGD:1349688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16893906|PMID:18325908|PMID:18931681 12206983 ENO1 enolase 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:735808 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12206983 ENO1 enolase 1 gene DOID:0080600 COVID-19 ISO RGD:735808 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12206983 ENO1 enolase 1 gene DOID:10652 Alzheimer's disease ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19374891 12206983 ENO1 enolase 1 gene DOID:10652 Alzheimer's disease ISO RGD:735808 D RGD:9068941 20200609 RGD protein:increased S-glutathionylation, decreased activity:inferior parietal cortex PMID:17387692|REF_RGD_ID:13792613 12206983 ENO1 enolase 1 gene DOID:10763 hypertension ISO RGD:2553 D RGD:9068941 20200609 RGD PMID:16485256|REF_RGD_ID:1598909 12206983 ENO1 enolase 1 gene DOID:11476 osteoporosis ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12206983 ENO1 enolase 1 gene DOID:12336 male infertility ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27460355 12206983 ENO1 enolase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12206983 ENO1 enolase 1 gene DOID:299 adenocarcinoma ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 12206983 ENO1 enolase 1 gene DOID:305 carcinoma ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12206983 ENO1 enolase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 12206983 ENO1 enolase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893|PMID:27602772 12206983 ENO1 enolase 1 gene DOID:630 genetic disease ISO RGD:735808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12206983 ENO1 enolase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12206983 ENO1 enolase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19898480 12206983 ENO1 enolase 1 gene DOID:8398 osteoarthritis ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12206983 ENO1 enolase 1 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 12206983 ENO1 enolase 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 12206983 ENO1 enolase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 12206983 ENO1 enolase 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12206983 ENO1 enolase 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 12206983 ENO1 enolase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12206983 ENO1 enolase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15654357 12206983 ENO1 enolase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12206983 ENO1 enolase 1 gene DOID:9006205 Animal Disease Models ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12206983 ENO1 enolase 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12206983 ENO1 enolase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942|PMID:25231249 12206983 ENO1 enolase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19655245 12206999 TPM3 tropomyosin 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1605427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12206999 TPM3 tropomyosin 3 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1605427 D RGD:7240710 20200619 OMIM 12206999 TPM3 tropomyosin 3 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1605427 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:12163190|PMID:12467750|PMID:17376686|PMID:18300303|PMID:19487656|PMID:19553118|PMID:19953533|PMID:20179953|PMID:20301436|PMID:20554445|PMID:21357678|PMID:22749829|PMID:22798622|PMID:23886664|PMID:24033266|PMID:24095155|PMID:24507666|PMID:24642510|PMID:24692096|PMID:25741868|PMID:26307083|PMID:26467025|PMID:27363342|PMID:27854218|PMID:28492532|PMID:30768849 12206999 TPM3 tropomyosin 3 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1605427 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:12163190|PMID:1221488|PMID:12467750|PMID:17376686|PMID:18300303|PMID:19487656|PMID:19553118|PMID:19953533|PMID:20179953|PMID:20301436|PMID:20554445|PMID:20951040|PMID:21357678|PMID:22749829|PMID:22798622|PMID:23886664|PMID:24033266|PMID:24095155|PMID:24507666|PMID:24642510|PMID:24692096|PMID:25741868|PMID:26307083|PMID:26467025|PMID:27363342|PMID:27854218|PMID:28492532|PMID:30768849|PMID:35688744 12206999 TPM3 tropomyosin 3 gene DOID:0110926 nemaline myopathy 1 ISO RGD:1605427 D RGD:7240710 20180130 OMIM 12206999 TPM3 tropomyosin 3 gene DOID:0110926 nemaline myopathy 1 ISO RGD:1605427 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cap myopathy 1 | ClinVar Annotator: match by term: Congenital myopathy 4B, autosomal recessive | ClinVar Annotator: match by term: Nemaline myopathy 1, autosomal dominant or recessive PMID:10587521|PMID:10619715|PMID:11106625|PMID:11964245|PMID:12163017|PMID:12163190|PMID:12196661|PMID:1221488|PMID:12467750|PMID:15562513|PMID:16199547|PMID:17376686|PMID:17576681|PMID:18300303|PMID:18382475|PMID:18716557|PMID:19487656|PMID:19553118|PMID:19953533|PMID:20012312|PMID:20179953|PMID:20301436|PMID:20301465|PMID:20554445|PMID:20951040|PMID:21357678|PMID:22749829|PMID:22798622|PMID:23886664|PMID:24033266|PMID:24095155|PMID:24239060|PMID:24507666|PMID:24642510|PMID:24692096|PMID:25326635|PMID:25741868|PMID:26307083|PMID:26467025|PMID:27363342|PMID:27854218|PMID:27858751|PMID:28492532|PMID:30768849|PMID:32860008|PMID:33124102|PMID:35688744|PMID:7663526|PMID:7704029|PMID:9536098 12206999 TPM3 tropomyosin 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1605427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12206999 TPM3 tropomyosin 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12206999 TPM3 tropomyosin 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 12206999 TPM3 tropomyosin 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1605427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12206999 TPM3 tropomyosin 3 gene DOID:299 adenocarcinoma ISO RGD:1605427 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 12206999 TPM3 tropomyosin 3 gene DOID:305 carcinoma ISO RGD:1605427 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 12206999 TPM3 tropomyosin 3 gene DOID:3191 nemaline myopathy ISO RGD:1605427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 12206999 TPM3 tropomyosin 3 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1605427 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid PMID:28677753|REF_RGD_ID:13792605 12206999 TPM3 tropomyosin 3 gene DOID:422 congenital structural myopathy ISO RGD:1605427 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:12163190|PMID:1221488|PMID:12467750|PMID:17376686|PMID:18300303|PMID:19487656|PMID:19553118|PMID:19953533|PMID:20179953|PMID:20301436|PMID:20554445|PMID:20951040|PMID:21357678|PMID:22749829|PMID:22798622|PMID:23886664|PMID:24095155|PMID:24507666|PMID:24642510|PMID:24692096|PMID:25741868|PMID:26307083|PMID:26467025|PMID:27363342|PMID:27854218|PMID:28492532|PMID:35688744 12206999 TPM3 tropomyosin 3 gene DOID:423 myopathy ISO RGD:1605427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 12206999 TPM3 tropomyosin 3 gene DOID:5812 MHC class II deficiency ISO RGD:1605427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12206999 TPM3 tropomyosin 3 gene DOID:630 genetic disease ISO RGD:1605427 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12163190|PMID:12467750|PMID:17376686|PMID:18300303|PMID:19487656|PMID:19553118|PMID:19953533|PMID:20179953|PMID:20301436|PMID:20554445|PMID:21357678|PMID:22749829|PMID:22798622|PMID:23886664|PMID:24095155|PMID:24507666|PMID:24642510|PMID:24692096|PMID:25741868|PMID:26307083|PMID:27363342|PMID:28492532 12206999 TPM3 tropomyosin 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1605427 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 12206999 TPM3 tropomyosin 3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1605427 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 12206999 TPM3 tropomyosin 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605427 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12206999 TPM3 tropomyosin 3 gene DOID:9002928 Colonic Neoplasms ISO RGD:1605427 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19369484 12206999 TPM3 tropomyosin 3 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1605427 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23811263 12206999 TPM3 tropomyosin 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1605427 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 12206999 TPM3 tropomyosin 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12207036 NDC80 NDC80 kinetochore complex component gene DOID:10534 stomach cancer ISO RGD:1320890 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach PMID:19878654|REF_RGD_ID:28867241 12207036 NDC80 NDC80 kinetochore complex component gene DOID:1059 intellectual disability ISO RGD:1320890 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12207036 NDC80 NDC80 kinetochore complex component gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1320890 D RGD:9068941 20200609 RGD PMID:17079454|REF_RGD_ID:28867236 12207036 NDC80 NDC80 kinetochore complex component gene DOID:630 genetic disease ISO RGD:1320890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207036 NDC80 NDC80 kinetochore complex component gene DOID:684 hepatocellular carcinoma ISO RGD:1320890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12207036 NDC80 NDC80 kinetochore complex component gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1320890 D RGD:9068941 20201203 RGD associated with melanoma PMID:31173190|REF_RGD_ID:40822820 12207036 NDC80 NDC80 kinetochore complex component gene DOID:9256 colorectal cancer ISO RGD:1320890 D RGD:9068941 20200609 RGD mRNA:increased expression:colorectum PMID:19878654|REF_RGD_ID:28867241 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28434932 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:0050852 limb ischemia ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:17522350|REF_RGD_ID:1626332 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:0060074 ductal carcinoma in situ ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:0060074 ductal carcinoma in situ ISO RGD:730935 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:16080559|REF_RGD_ID:2306227 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:0060221 Maffucci syndrome ISO RGD:730935 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maffucci syndrome PMID:25741868 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:0060224 atrial fibrillation ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:right atrium appendage, cytoplasm (human) PMID:19211267|REF_RGD_ID:8695924 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:0080322 polycystic kidney disease ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:17322369|REF_RGD_ID:10395372 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:10283 prostate cancer ISO RGD:730935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:10591 pre-eclampsia ISO RGD:730935 D RGD:9068941 20221103 RGD protein:increased expression:chorionic villus (human) PMID:22840297|REF_RGD_ID:155631283 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:62221 D RGD:9068941 20200609 RGD protein:increased expression:brain, microvessel (mouse) PMID:21904637|REF_RGD_ID:9068888 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:730935 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex, microvessel (human) PMID:16627934|REF_RGD_ID:9068875 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:1074 kidney failure ISO RGD:61928 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:kidney PMID:15583217|REF_RGD_ID:1626324 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:10763 hypertension ISO RGD:61928 D RGD:9068941 20200609 RGD associated with Hypercholesterolemia;protein:increased expression:aorta PMID:11882589|REF_RGD_ID:1626330 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:10763 hypertension ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:16955051|REF_RGD_ID:1626317 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:10763 hypertension ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22349312 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:10763 hypertension ISO RGD:730935 D RGD:9068941 20200609 RGD Hypertension, Pregnancy-Induced;mRNA, protein:increased expression:placenta PMID:15862159|REF_RGD_ID:1626322 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:10964 cholesteatoma of middle ear ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:auditory canal, epidermis (human) PMID:12838021|REF_RGD_ID:8694474 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:11054 urinary bladder cancer ISO RGD:730935 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:11650 bronchopulmonary dysplasia ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:26431790|REF_RGD_ID:11537057 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:11650 bronchopulmonary dysplasia treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:23065129|REF_RGD_ID:10395385 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:11721 glycogen storage disease VII ISO RGD:62221 D RGD:9068941 20220825 MouseDO OMIM:232800 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:11981 morbid obesity ISO RGD:730935 D RGD:9068941 20200609 RGD mRNA:increased expression:subcutaneous adipose tissue PMID:16046292|REF_RGD_ID:1626320 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:12236 primary biliary cholangitis ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22271822 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:12337 varicocele ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:epididymus (rat) PMID:25095617|REF_RGD_ID:9068459 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:12510 retinal ischemia treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:23537149|REF_RGD_ID:10755711 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:13413 hepatic encephalopathy ISO RGD:61928 D RGD:9068941 20200609 RGD associated with Hypertension, Portal PMID:24382264|REF_RGD_ID:10395388 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:13948 bladder neck obstruction ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder (rat) PMID:12118092|REF_RGD_ID:9068887 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:14268 sclerosing cholangitis ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22271822 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:1682 congenital heart disease ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26073000 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:1793 pancreatic cancer ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16628086 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:2154 nephroblastoma severity ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17937859|REF_RGD_ID:2291911 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:224 transient cerebral ischemia ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, caudoputamen (rat) PMID:20417628|REF_RGD_ID:9068877 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:224 transient cerebral ischemia treatment ISO RGD:61928 D RGD:9068941 20221117 RGD PMID:30258350|REF_RGD_ID:155663419 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:2316 brain ischemia ISO RGD:61928 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex (rat) PMID:17101276|REF_RGD_ID:9068892 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:2316 brain ischemia ISO RGD:62221 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17554006|REF_RGD_ID:1626331 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:2316 brain ischemia ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19429140 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:2316 brain ischemia treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:18369388|REF_RGD_ID:9068895 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:2394 ovarian cancer disease_progression ISO RGD:730935 D RGD:9068941 20200609 RGD PMID:19014607|REF_RGD_ID:2306225 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:2746 glycogen storage disease V ISO RGD:62221 D RGD:9068941 20220825 MouseDO OMIM:232600 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:2841 asthma treatment ISO RGD:62221 D RGD:9068941 20200609 RGD PMID:18160846|REF_RGD_ID:10402541 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:3008 invasive ductal carcinoma ISO RGD:730935 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:16080559|REF_RGD_ID:2306227 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:3021 acute kidney failure ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:15673301|REF_RGD_ID:10395376 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:3021 acute kidney failure ISO RGD:61928 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (rat) PMID:18593636|REF_RGD_ID:9068894 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:3021 acute kidney failure treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:16762988|REF_RGD_ID:10395386 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:305 carcinoma ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19808899 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:3068 glioblastoma ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12811834 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:3069 malignant astrocytoma ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:3454 brain infarction exacerbates ISO RGD:61928 D RGD:9068941 20221117 RGD PMID:30052311|REF_RGD_ID:155663378 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:21029239|REF_RGD_ID:9068917 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:3526 cerebral infarction severity ISO RGD:730935 D RGD:9068941 20220930 RGD protein:increased expression:blood serum (human) PMID:34708885|REF_RGD_ID:155260326 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:369 olfactory neuroblastoma severity ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:neuroblastoma (human) PMID:18431543|REF_RGD_ID:8694471 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17201171 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:3908 lung non-small cell carcinoma ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:730935 D RGD:9068941 20200609 RGD PMID:21812995|REF_RGD_ID:10395382 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:4449 macular retinal edema ISO RGD:730935 D RGD:9068941 20221014 RGD associated with central retinal vein occlusion;mRNA:increased expression:aqueous humor of eyeball (human) PMID:35799735|REF_RGD_ID:155582223 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:730935 D RGD:9068941 20200609 RGD PMID:19302703|REF_RGD_ID:2306222 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:4624 Ollier disease ISO RGD:730935 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Enchondromatosis PMID:25741868|PMID:28492532 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:5082 liver cirrhosis ISO RGD:730935 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:36126797 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:5241 hemangioblastoma ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:5688 Werner syndrome treatment ISO RGD:62221 D RGD:9068941 20200609 RGD PMID:19741171|REF_RGD_ID:10402544 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:576 proteinuria ISO RGD:61928 D RGD:9068941 20230128 RGD mRNA, protein:increased expression:brain,kidney (rat) PMID:31784544|REF_RGD_ID:155882534 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:5844 myocardial infarction ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:15247145|REF_RGD_ID:1580977 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:5844 myocardial infarction ISO RGD:61928 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:18484163|REF_RGD_ID:5147886 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:5844 myocardial infarction ameliorates ISO RGD:61928 D RGD:9068941 20230427 RGD PMID:28622474|REF_RGD_ID:329333030 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:5844 myocardial infarction treatment ISO RGD:730935 D RGD:9068941 20200609 RGD human gene in a rat model PMID:15999059|REF_RGD_ID:9068466 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:6000 congestive heart failure ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:heart right ventricle (rat) PMID:17582388|REF_RGD_ID:9068910 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:6000 congestive heart failure ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15732037 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:630 genetic disease ISO RGD:730935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:6432 pulmonary hypertension ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:16215633|REF_RGD_ID:10395375 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:6432 pulmonary hypertension ISO RGD:61928 D RGD:9068941 20200609 RGD associated with Anoxia;protein:increased expression:pulmonary artery PMID:17213961|REF_RGD_ID:1601553 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:6432 pulmonary hypertension ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20110409 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:26078356|REF_RGD_ID:11526468 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730935 D RGD:9068941 20230202 RGD PMID:31321740|REF_RGD_ID:155882550 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:684 hepatocellular carcinoma treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:19335982|REF_RGD_ID:9068886 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:7148 rheumatoid arthritis ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:layer of synovial tissue, stromal cell PMID:12823854|REF_RGD_ID:10395366 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:8398 osteoarthritis ISO RGD:62221 D RGD:9068941 20200609 RGD PMID:18789153|REF_RGD_ID:10402406 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:8398 osteoarthritis ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:layer of synovial tissue, stromal cell PMID:12823854|REF_RGD_ID:10395366 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:850 lung disease ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20152896 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:8691 mycosis fungoides ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:epidermis, dermis (human) PMID:24127318|REF_RGD_ID:8695934 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:8717 decubitus ulcer ISO RGD:61928 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:deep dorsal muscles (rat) PMID:20223667|REF_RGD_ID:8694460 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:8893 psoriasis ISO RGD:730935 D RGD:9068941 20200609 RGD PMID:17495954|REF_RGD_ID:10395383 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:8893 psoriasis ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23517877|REF_RGD_ID:8695945 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:8923 skin melanoma ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:epidermis (human) PMID:19558170|REF_RGD_ID:8695922 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:8947 diabetic retinopathy ISO RGD:61928 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:retina (rat) PMID:22110070|REF_RGD_ID:7364887 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:8947 diabetic retinopathy severity ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:retina, vascular endothelial cell (human) PMID:17229797|REF_RGD_ID:8694462 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:8947 diabetic retinopathy treatment ISO RGD:61928 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:20515763|REF_RGD_ID:8696025 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9000039 Spinal Cord Injuries ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:21092735|REF_RGD_ID:5148013 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9000039 Spinal Cord Injuries ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21092735 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9000111 Radiation Injuries treatment ISO RGD:730935 D RGD:9068941 20200609 RGD PMID:17340073|REF_RGD_ID:8695920 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:15703702|REF_RGD_ID:1626323 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9000585 Intervertebral Disc Disease ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion, neuron, cytoplasm (rat) PMID:21243740|REF_RGD_ID:9068928 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9000855 Experimental Radiation Injuries ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:white matter of spinal cord (rat) PMID:15161688|REF_RGD_ID:9068912 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9000855 Experimental Radiation Injuries ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23065176 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9000918 Disease Progression ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9001041 Asphyxia ISO RGD:61928 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium, lung (rat) PMID:17285858|REF_RGD_ID:9068458 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:61928 D RGD:9068941 20221201 RGD PMID:21063852|REF_RGD_ID:12859045 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:61928 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:17085342|REF_RGD_ID:9068897 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9001390 Testis Reperfusion Injury ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:testes (rat) PMID:12193413|REF_RGD_ID:632997 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9001968 Hot Flashes susceptibility ISO RGD:730935 D RGD:9068941 20200609 RGD DNA:snp:exon:c.1744C>T (human) PMID:18785001|REF_RGD_ID:8695942 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9002141 Anaplasia ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19808899 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:61928 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17914354|REF_RGD_ID:10395377 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:61928 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:17967803|REF_RGD_ID:10395374 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9002170 Experimental Neoplasms ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28574600 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9002211 Hyperalgesia ISO RGD:61928 D RGD:9068941 20200609 RGD associated with Limb Ischemia;protein:increased expression:foot muscle, plantar PMID:18691814|REF_RGD_ID:9068903 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9002221 Hyperplasia ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16205110 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9002457 Experimental Arthritis treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:21679445|REF_RGD_ID:8693318 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9002661 Diabetes Complications ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26073000 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:62221 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (mouse) PMID:20220049|REF_RGD_ID:9068455 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:62221 D RGD:9068941 20200609 RGD PMID:18087198|REF_RGD_ID:8695923 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9002910 Hearing Loss, Noise-Induced treatment ISO RGD:62221 D RGD:9068941 20200609 RGD PMID:21787680|REF_RGD_ID:8695948 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9002928 Colonic Neoplasms severity ISO RGD:730935 D RGD:9068941 20200609 RGD PMID:21812995|REF_RGD_ID:10395382 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9003049 Femur Head Necrosis ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:26261616|REF_RGD_ID:11087286 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9003646 Arterial Thrombosis ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:plantar, foot muscle (rat) PMID:22351094|REF_RGD_ID:8695963 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:18210138|REF_RGD_ID:9068873 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:61928 D RGD:9068941 20230128 RGD mRNA, protein:increased expression:brain,kidney (rat) PMID:31784544|REF_RGD_ID:155882534 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23694759 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:19595151|REF_RGD_ID:9068901 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9003936 Cardiomegaly ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15942707 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9004009 Reperfusion Injury treatment ISO RGD:61928 D RGD:9068941 20200609 RGD Limb Reperfusion Injury PMID:23816242|REF_RGD_ID:9068927 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9004009 Reperfusion Injury treatment ISO RGD:61928 D RGD:9068941 20200609 RGD Spinal Cord Reperfusion Injury PMID:16465055|REF_RGD_ID:9068924 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9004240 Phyllodes Tumor severity ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:breast (human) PMID:16168127|REF_RGD_ID:8694472 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9004464 Skin Neoplasms ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276359 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9004547 Thyroid Neoplasms ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19808899 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12811834|PMID:29501572 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:renal/urinary system PMID:18304212|REF_RGD_ID:2306226 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9004713 Acute-Phase Reaction ISO RGD:61928 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:19840250|REF_RGD_ID:10395370 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:62221 D RGD:9068941 20200609 RGD PMID:18067744|REF_RGD_ID:10402540 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9004914 Postmenopausal Osteoporosis treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:24023068|REF_RGD_ID:10402191 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9005175 Ulcer ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:esophagus (rat) PMID:12368217|REF_RGD_ID:632996 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:17280655|REF_RGD_ID:2293194 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9005600 Infarction ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:12911537|REF_RGD_ID:10395384 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve (rat) PMID:15663958|REF_RGD_ID:8694461 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9006223 Kidney Reperfusion Injury severity ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:22432008|REF_RGD_ID:9068883 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:17519789|REF_RGD_ID:1626334 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9006281 Temporomandibular Joint Disorders ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:temporomandibular joint, cartilage PMID:20171183|REF_RGD_ID:10402539 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:23603807|REF_RGD_ID:10395381 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23065176 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:61928 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium (rat) PMID:17335664|REF_RGD_ID:9068465 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29501572 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9007730 Burns ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:Peyer's patches (rat) PMID:19439119|REF_RGD_ID:9068477 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9007748 Retinal Neovascularization treatment ISO RGD:62221 D RGD:9068941 20200609 RGD PMID:21414312|REF_RGD_ID:8695956 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:61928 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:12189448|REF_RGD_ID:1626327 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:myocardium PMID:19727523|REF_RGD_ID:5147885 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18549825|PMID:22050707 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:20170615|REF_RGD_ID:9068872 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:24072673|REF_RGD_ID:10402542 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9008023 Memory Disorders treatment ISO RGD:62221 D RGD:9068941 20200609 RGD PMID:22547371|REF_RGD_ID:10402407 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9008138 Ductal Carcinoma ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9008212 Diabetic Foot ISO RGD:730935 D RGD:9068941 20220930 RGD mRNA,protein:decreased expression:blood serum, foot (human) PMID:34293021|REF_RGD_ID:155260332 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9008939 Breast Neoplasms ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24349381 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9008939 Breast Neoplasms ISO RGD:730935 D RGD:9068941 20200609 RGD PMID:19064988|REF_RGD_ID:2306224 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:730935 D RGD:9068941 20200609 RGD PMID:17245699|REF_RGD_ID:2293195 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9256 colorectal cancer ameliorates ISO RGD:730935 D RGD:9068941 20220421 RGD human cells in mouse model PMID:30789971|REF_RGD_ID:151893289 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:17914354|REF_RGD_ID:10395377 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:heart blood vessel PMID:12234789|REF_RGD_ID:625730 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:730935 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:serum (human) PMID:23244125|REF_RGD_ID:8695972 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:730935 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P582S (human) PMID:16046581|REF_RGD_ID:8695936 12207057 HIF1A hypoxia inducible factor 1 subunit alpha gene DOID:9970 obesity ISO RGD:730935 D RGD:9068941 20230202 RGD associated with hepatocellular carcinoma;RNA:decreased expression:liver: PMID:31321740|REF_RGD_ID:155882550 12207076 PNPLA7 patatin like phospholipase domain containing 7 gene DOID:0050436 mulibrey nanism ISO RGD:1353397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mulibrey nanism syndrome 12207076 PNPLA7 patatin like phospholipase domain containing 7 gene DOID:0050777 Joubert syndrome ISO RGD:1353397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12207076 PNPLA7 patatin like phospholipase domain containing 7 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1353397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12207076 PNPLA7 patatin like phospholipase domain containing 7 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1353397 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12207076 PNPLA7 patatin like phospholipase domain containing 7 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1353397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12207076 PNPLA7 patatin like phospholipase domain containing 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353397 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12207076 PNPLA7 patatin like phospholipase domain containing 7 gene DOID:0081097 Rafiq syndrome ISO RGD:1353397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12207076 PNPLA7 patatin like phospholipase domain containing 7 gene DOID:1826 epilepsy ISO RGD:1353397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12207076 PNPLA7 patatin like phospholipase domain containing 7 gene DOID:5426 primary ovarian insufficiency ISO RGD:1353397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:31042289 12207076 PNPLA7 patatin like phospholipase domain containing 7 gene DOID:630 genetic disease ISO RGD:1353397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207076 PNPLA7 patatin like phospholipase domain containing 7 gene DOID:9002421 Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development ISO RGD:1353397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development PMID:25741868 12207076 PNPLA7 patatin like phospholipase domain containing 7 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1353397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12207120 CFAP157 cilia and flagella associated protein 157 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343575 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12207120 CFAP157 cilia and flagella associated protein 157 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1343575 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12207120 CFAP157 cilia and flagella associated protein 157 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1343575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12207120 CFAP157 cilia and flagella associated protein 157 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1343575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 12207120 CFAP157 cilia and flagella associated protein 157 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343575 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12207120 CFAP157 cilia and flagella associated protein 157 gene DOID:630 genetic disease ISO RGD:1343575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207141 SUOX sulfite oxidase gene DOID:0060041 autism spectrum disorder ISO RGD:733312 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12207141 SUOX sulfite oxidase gene DOID:0111270 isolated sulfite oxidase deficiency ISO RGD:733312 D RGD:7240710 20180130 OMIM 12207141 SUOX sulfite oxidase gene DOID:0111270 isolated sulfite oxidase deficiency ISO RGD:733312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sulfite oxidase deficiency | ClinVar Annotator: match by term: Sulfocysteinuria PMID:10519592|PMID:12001203|PMID:12112661|PMID:1212661|PMID:12368985|PMID:15952210|PMID:16140720|PMID:17576681|PMID:17940249|PMID:19339519|PMID:19793632|PMID:22865819|PMID:23994568|PMID:24756183|PMID:24938149|PMID:25741868|PMID:25758000|PMID:28492532|PMID:28629418|PMID:28725568|PMID:28933809|PMID:28980090|PMID:29590070|PMID:31127934|PMID:31870341|PMID:33098801|PMID:34025712|PMID:34420858|PMID:35679912|PMID:9050047|PMID:9428520|PMID:9536098|PMID:9600976 12207141 SUOX sulfite oxidase gene DOID:0111888 Diamond-Blackfan anemia 10 ISO RGD:733312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 PMID:20116044|PMID:22045982|PMID:22689679|PMID:23718193|PMID:28492532 12207141 SUOX sulfite oxidase gene DOID:630 genetic disease ISO RGD:733312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12001203|PMID:12112661|PMID:12368985|PMID:19339519|PMID:23994568|PMID:25741868|PMID:28492532|PMID:28725568|PMID:29590070|PMID:31870341|PMID:34025712|PMID:34420858|PMID:35679912|PMID:9428520|PMID:9600976 12207141 SUOX sulfite oxidase gene DOID:655 inherited metabolic disorder susceptibility ISO RGD:733312 D RGD:9068941 20200609 RGD DNA:mutations PMID:12112661|REF_RGD_ID:1600121 12207141 SUOX sulfite oxidase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12207141 SUOX sulfite oxidase gene DOID:9452 fatty liver disease ISO RGD:619994 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:15144217|REF_RGD_ID:1600114 12207155 SKIC2 SKI2 subunit of superkiller complex gene DOID:0050553 JMP syndrome ISO RGD:1351044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12207155 SKIC2 SKI2 subunit of superkiller complex gene DOID:0111414 trichohepatoenteric syndrome ISO RGD:1351044 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome PMID:22444670|PMID:25741868|PMID:27050310|PMID:28492532|PMID:28496993|PMID:29527791|PMID:31681265|PMID:33098347|PMID:33249554|PMID:35607352 12207155 SKIC2 SKI2 subunit of superkiller complex gene DOID:0111416 trichohepatoenteric syndrome 2 ISO RGD:1351044 D RGD:7240710 20180130 OMIM 12207155 SKIC2 SKI2 subunit of superkiller complex gene DOID:0111416 trichohepatoenteric syndrome 2 ISO RGD:1351044 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome 2 PMID:16199547|PMID:22444670|PMID:24033266|PMID:25326635|PMID:25714577|PMID:25741868|PMID:27050310|PMID:27431780|PMID:28492532|PMID:28496993|PMID:29527791|PMID:31681265|PMID:32313153|PMID:32963807|PMID:33098347|PMID:33249554|PMID:35607352 12207155 SKIC2 SKI2 subunit of superkiller complex gene DOID:630 genetic disease ISO RGD:1351044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207187 AASS aminoadipate-semialdehyde synthase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12207187 AASS aminoadipate-semialdehyde synthase gene DOID:630 genetic disease ISO RGD:1321929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12207187 AASS aminoadipate-semialdehyde synthase gene DOID:9002075 Saccharopinuria ISO RGD:1321929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Saccharopinuria PMID:25741868|PMID:28492532 12207187 AASS aminoadipate-semialdehyde synthase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12207187 AASS aminoadipate-semialdehyde synthase gene DOID:9274 hyperlysinemia ISO RGD:1321929 D RGD:7240710 20180130 OMIM 12207187 AASS aminoadipate-semialdehyde synthase gene DOID:9274 hyperlysinemia ISO RGD:1321929 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperlysinemia PMID:10775527|PMID:23570448|PMID:23890588|PMID:25741868|PMID:28492532|PMID:934735 12207215 ATP6V0B ATPase H+ transporting V0 subunit b gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1317997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532 12207215 ATP6V0B ATPase H+ transporting V0 subunit b gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1317997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12207215 ATP6V0B ATPase H+ transporting V0 subunit b gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1317997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532 12207215 ATP6V0B ATPase H+ transporting V0 subunit b gene DOID:630 genetic disease ISO RGD:1317997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207230 GINS4 GINS complex subunit 4 gene DOID:630 genetic disease ISO RGD:1601940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207245 USHBP1 USH1 protein network component harmonin binding protein 1 gene DOID:630 genetic disease ISO RGD:1322004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207289 OR2AT2 olfactory receptor family 2 subfamily AT member 2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1348041 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12207289 OR2AT2 olfactory receptor family 2 subfamily AT member 2 gene DOID:1059 intellectual disability ISO RGD:1348041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12207289 OR2AT2 olfactory receptor family 2 subfamily AT member 2 gene DOID:630 genetic disease ISO RGD:1348041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207292 EMILIN3 elastin microfibril interfacer 3 gene DOID:2234 focal epilepsy ISO RGD:1320036 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12207292 EMILIN3 elastin microfibril interfacer 3 gene DOID:630 genetic disease ISO RGD:1320036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207292 EMILIN3 elastin microfibril interfacer 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1320036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12207303 ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 gene DOID:630 genetic disease ISO RGD:1319889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207303 ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1319889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12207322 STRAP serine/threonine kinase receptor associated protein gene DOID:0080199 colorectal carcinoma ISO RGD:1322398 D RGD:9068941 20200609 RGD PMID:16778189|REF_RGD_ID:1581429 12207322 STRAP serine/threonine kinase receptor associated protein gene DOID:299 adenocarcinoma ISO RGD:1322398 D RGD:9068941 20200609 RGD PMID:16778189|REF_RGD_ID:1581429 12207322 STRAP serine/threonine kinase receptor associated protein gene DOID:3168 squamous cell neoplasm ISO RGD:1322398 D RGD:9068941 20200609 RGD PMID:16778189|REF_RGD_ID:1581429 12207322 STRAP serine/threonine kinase receptor associated protein gene DOID:3905 lung carcinoma ISO RGD:1322398 D RGD:9068941 20200609 RGD PMID:16778189|REF_RGD_ID:1581429 12207322 STRAP serine/threonine kinase receptor associated protein gene DOID:4552 large cell carcinoma ISO RGD:1322398 D RGD:9068941 20200609 RGD PMID:16778189|REF_RGD_ID:1581429 12207322 STRAP serine/threonine kinase receptor associated protein gene DOID:630 genetic disease ISO RGD:1322398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207322 STRAP serine/threonine kinase receptor associated protein gene DOID:9008443 Colorectal Neoplasms ISO RGD:1322398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15720808 12207336 SCD stearoyl-CoA desaturase gene DOID:0080600 COVID-19 ISO RGD:735301 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12207336 SCD stearoyl-CoA desaturase gene DOID:0081120 Graves ophthalmopathy ISO RGD:735301 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17614770 12207336 SCD stearoyl-CoA desaturase gene DOID:2018 hyperinsulinism ISO RGD:621176 D RGD:9068941 20200609 RGD associated with Obesity PMID:16284748|REF_RGD_ID:1580005 12207336 SCD stearoyl-CoA desaturase gene DOID:305 carcinoma ISO RGD:621176 D RGD:9068941 20200609 RGD PMID:12419843|REF_RGD_ID:633981 12207336 SCD stearoyl-CoA desaturase gene DOID:305 carcinoma ISO RGD:735301 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 12207336 SCD stearoyl-CoA desaturase gene DOID:630 genetic disease ISO RGD:735301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207336 SCD stearoyl-CoA desaturase gene DOID:684 hepatocellular carcinoma ISO RGD:735301 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 12207336 SCD stearoyl-CoA desaturase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735301 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 12207336 SCD stearoyl-CoA desaturase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735301 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 12207336 SCD stearoyl-CoA desaturase gene DOID:9007188 Liver Neoplasms ISO RGD:735301 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12419843 12207336 SCD stearoyl-CoA desaturase gene DOID:9455 lipid storage disease ISO RGD:735301 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21123845 12207346 COL16A1 collagen type XVI alpha 1 chain gene DOID:630 genetic disease ISO RGD:1322191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207422 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:730838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 12207422 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:1210 optic neuritis ISO RGD:730839 D RGD:9068941 20200609 RGD associated with Encephalomyelitis, Autoimmune, Experimental;protein:altered expression:optic II nerve PMID:20151287|REF_RGD_ID:5686855 12207422 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:12849 autistic disorder ISO RGD:730839 D RGD:9068941 20200609 RGD protein:increased expression:cingulate cortex PMID:21575186|REF_RGD_ID:5686862 12207422 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:1826 epilepsy ISO RGD:730838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12207422 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:2316 brain ischemia ISO RGD:619942 D RGD:9068941 20200609 RGD PMID:21864831|REF_RGD_ID:5686850 12207422 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:730838 D RGD:9068941 20200609 RGD PMID:10976643|REF_RGD_ID:5686865 12207422 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:2717 Bloom syndrome ISO RGD:730838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12207422 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:3213 demyelinating disease ISO RGD:730839 D RGD:9068941 20200609 RGD PMID:22078261|REF_RGD_ID:5686845 12207422 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:3613 Canavan disease ISO RGD:733059 D RGD:9068941 20200609 RGD PMID:19739253|REF_RGD_ID:5686858 12207422 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:5419 schizophrenia ISO RGD:730838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12207422 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:630 genetic disease ISO RGD:730838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207422 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:684 hepatocellular carcinoma ISO RGD:730838 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12207422 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:619942 D RGD:9068941 20200609 RGD PMID:22042562|REF_RGD_ID:5686848 12207422 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:730838 D RGD:9068941 20200609 RGD PMID:19604403|REF_RGD_ID:5686859 12207422 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:730839 D RGD:9068941 20200609 RGD PMID:22243800|REF_RGD_ID:5686844 12207422 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:9000998 Brain Injuries ISO RGD:619942 D RGD:9068941 20200609 RGD protein:altered expression:cerebral cortex PMID:19473238|REF_RGD_ID:5686860 12207422 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:619942 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:20162860|REF_RGD_ID:5686863 12207422 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:730839 D RGD:9068941 20200609 RGD PMID:21679768|REF_RGD_ID:5686852 12207422 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:9004009 Reperfusion Injury ISO RGD:619942 D RGD:9068941 20200609 RGD PMID:17565360|REF_RGD_ID:5686869 12207422 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:9007096 Stroke ISO RGD:619942 D RGD:9068941 20200609 RGD PMID:21951366|REF_RGD_ID:5686849 12207422 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:9256 colorectal cancer ISO RGD:730838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12207422 CSPG4 chondroitin sulfate proteoglycan 4 gene DOID:9952 acute lymphoblastic leukemia severity ISO RGD:730838 D RGD:9068941 20200609 RGD PMID:8562939|REF_RGD_ID:734840 12207437 OLFML2A olfactomedin like 2A gene DOID:0080600 COVID-19 ISO RGD:1323220 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12207437 OLFML2A olfactomedin like 2A gene DOID:630 genetic disease ISO RGD:1323220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207437 OLFML2A olfactomedin like 2A gene DOID:684 hepatocellular carcinoma ISO RGD:1323220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12207450 PDGFA platelet derived growth factor subunit A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12207450 PDGFA platelet derived growth factor subunit A gene DOID:12215 oligohydramnios ISO RGD:3282 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:17519529|REF_RGD_ID:2292203 12207450 PDGFA platelet derived growth factor subunit A gene DOID:127 leiomyoma ISO RGD:736070 D RGD:9068941 20200609 RGD protein:increased expression:myometrium PMID:16294022|REF_RGD_ID:2292153 12207450 PDGFA platelet derived growth factor subunit A gene DOID:1591 renovascular hypertension ISO RGD:3282 D RGD:9068941 20200609 RGD mRNA:increased expression:vascular associated smooth muscle cell PMID:17439406|REF_RGD_ID:2289672 12207450 PDGFA platelet derived growth factor subunit A gene DOID:1612 breast cancer ISO RGD:736070 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:8619189|REF_RGD_ID:2292155 12207450 PDGFA platelet derived growth factor subunit A gene DOID:2224 essential thrombocythemia ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15682418 12207450 PDGFA platelet derived growth factor subunit A gene DOID:2526 prostate adenocarcinoma ISO RGD:736070 D RGD:9068941 20200609 RGD protein:increased expression:prostate PMID:7524068|REF_RGD_ID:2292156 12207450 PDGFA platelet derived growth factor subunit A gene DOID:2696 Leydig cell tumor ISO RGD:736070 D RGD:9068941 20200609 RGD protein:increased expression:testis, leydig cell PMID:11994382|REF_RGD_ID:2298579 12207450 PDGFA platelet derived growth factor subunit A gene DOID:305 carcinoma ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 12207450 PDGFA platelet derived growth factor subunit A gene DOID:3070 high grade glioma ISO RGD:736070 D RGD:9068941 20200609 RGD in a mouse model PMID:21490965|REF_RGD_ID:13702894 12207450 PDGFA platelet derived growth factor subunit A gene DOID:3770 pulmonary fibrosis ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16324872 12207450 PDGFA platelet derived growth factor subunit A gene DOID:4989 pancreatitis ISO RGD:3282 D RGD:9068941 20200609 RGD associated with Reperfusion Injury;protein:increased expression:blood vessel PMID:16601314|REF_RGD_ID:2292161 12207450 PDGFA platelet derived growth factor subunit A gene DOID:630 genetic disease ISO RGD:736070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207450 PDGFA platelet derived growth factor subunit A gene DOID:6432 pulmonary hypertension ISO RGD:3282 D RGD:9068941 20200609 RGD PMID:8447423|REF_RGD_ID:1580847 12207450 PDGFA platelet derived growth factor subunit A gene DOID:850 lung disease ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20920717 12207450 PDGFA platelet derived growth factor subunit A gene DOID:8549 chronic ulcer of skin ISO RGD:3282 D RGD:9068941 20200609 RGD PMID:16383039|REF_RGD_ID:2292163 12207450 PDGFA platelet derived growth factor subunit A gene DOID:9000081 Lymphatic Metastasis ISO RGD:736070 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;mRNA:increased expression:breast PMID:8619189|REF_RGD_ID:2292155 12207450 PDGFA platelet derived growth factor subunit A gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 12207450 PDGFA platelet derived growth factor subunit A gene DOID:9000998 Brain Injuries ISO RGD:3282 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex, hippocampus PMID:9645955|REF_RGD_ID:11084932 12207450 PDGFA platelet derived growth factor subunit A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12207450 PDGFA platelet derived growth factor subunit A gene DOID:9001600 Wounds and Injuries ISO RGD:3282 D RGD:9068941 20200609 RGD PMID:18205704|REF_RGD_ID:2292158 12207450 PDGFA platelet derived growth factor subunit A gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:3282 D RGD:9068941 20200609 RGD PMID:11889420|REF_RGD_ID:11080974 12207450 PDGFA platelet derived growth factor subunit A gene DOID:9002165 Diabetic Nephropathies ISO RGD:736070 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent;mRNA, protein:increased expression:kidney PMID:12808179|REF_RGD_ID:2311649 12207450 PDGFA platelet derived growth factor subunit A gene DOID:9002231 Fetal Growth Retardation ISO RGD:736070 D RGD:9068941 20200609 RGD mRNA:increased expression:placenta PMID:11005132|REF_RGD_ID:2311066 12207450 PDGFA platelet derived growth factor subunit A gene DOID:9003566 Mesothelioma ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11415934 12207450 PDGFA platelet derived growth factor subunit A gene DOID:9004547 Thyroid Neoplasms ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 12207450 PDGFA platelet derived growth factor subunit A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3282 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 12207450 PDGFA platelet derived growth factor subunit A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3282 D RGD:9068941 20220331 RGD mRNA, protein:increased expression:mammary gland (rat) PMID:12376462|REF_RGD_ID:2292404 12207450 PDGFA platelet derived growth factor subunit A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 12207450 PDGFA platelet derived growth factor subunit A gene DOID:9005988 Multicystic Dysplastic Kidney ISO RGD:736070 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:9200407|REF_RGD_ID:2298582 12207450 PDGFA platelet derived growth factor subunit A gene DOID:9007819 Endocrine Bone Diseases ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18635661 12207450 PDGFA platelet derived growth factor subunit A gene DOID:9008939 Breast Neoplasms ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 12207478 TEF TEF transcription factor, PAR bZIP family member gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1345103 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12207478 TEF TEF transcription factor, PAR bZIP family member gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1345103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 12207478 TEF TEF transcription factor, PAR bZIP family member gene DOID:630 genetic disease ISO RGD:1345103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207492 MED10 mediator complex subunit 10 gene DOID:630 genetic disease ISO RGD:1604270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207500 DMRT1 doublesex and mab-3 related transcription factor 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:732173 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12207500 DMRT1 doublesex and mab-3 related transcription factor 1 gene DOID:0070168 spermatogenic failure 3 ISO RGD:732173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:24934491|PMID:25741868|PMID:28492532|PMID:31479588 12207500 DMRT1 doublesex and mab-3 related transcription factor 1 gene DOID:0080545 hyper IgE syndrome ISO RGD:732173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive PMID:28492532 12207500 DMRT1 doublesex and mab-3 related transcription factor 1 gene DOID:0080594 hyper IgE recurrent infection syndrome 2 ISO RGD:732173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE PMID:28492532 12207500 DMRT1 doublesex and mab-3 related transcription factor 1 gene DOID:0111771 46,XY sex reversal 4 ISO RGD:732173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 4 PMID:25741868 12207500 DMRT1 doublesex and mab-3 related transcription factor 1 gene DOID:14448 46,XY sex reversal ISO RGD:732173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY PMID:25741868 12207500 DMRT1 doublesex and mab-3 related transcription factor 1 gene DOID:630 genetic disease ISO RGD:732173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207500 DMRT1 doublesex and mab-3 related transcription factor 1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:732173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20543847 12207500 DMRT1 doublesex and mab-3 related transcription factor 1 gene DOID:9004207 Testicular Neoplasms ISO RGD:732173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20543847 12207525 MYOZ3 myozenin 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318422 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12207525 MYOZ3 myozenin 3 gene DOID:630 genetic disease ISO RGD:1318422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207525 MYOZ3 myozenin 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318422 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12207556 B3GALNT1 beta-1,3-N-acetylgalactosaminyltransferase 1 gene DOID:630 genetic disease ISO RGD:1312449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207556 B3GALNT1 beta-1,3-N-acetylgalactosaminyltransferase 1 gene DOID:9005170 polyagglutination ISO RGD:1312449 D RGD:7240710 20230505 OMIM 12207584 ZNF175 zinc finger protein 175 gene DOID:630 genetic disease ISO RGD:1346277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207598 FPGS folylpolyglutamate synthase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12207598 FPGS folylpolyglutamate synthase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1346571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17119116 12207598 FPGS folylpolyglutamate synthase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12207598 FPGS folylpolyglutamate synthase gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1346571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12207598 FPGS folylpolyglutamate synthase gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1346571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 12207598 FPGS folylpolyglutamate synthase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12207598 FPGS folylpolyglutamate synthase gene DOID:630 genetic disease ISO RGD:1346571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207598 FPGS folylpolyglutamate synthase gene DOID:7148 rheumatoid arthritis ISO RGD:1346571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 12207598 FPGS folylpolyglutamate synthase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1346571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 12207598 FPGS folylpolyglutamate synthase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1346571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25013492 12207627 OR4H12 olfactory receptor family 4 subfamily H member 12 gene DOID:630 genetic disease ISO RGD:1352705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207627 OR4H12 olfactory receptor family 4 subfamily H member 12 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1352705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12207631 MIR1306 microRNA mir-1306 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:2312937 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12207631 MIR1306 microRNA mir-1306 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:2312937 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12207631 MIR1306 microRNA mir-1306 gene DOID:11198 DiGeorge syndrome ISO RGD:2312937 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome 12207631 MIR1306 microRNA mir-1306 gene DOID:12583 velocardiofacial syndrome ISO RGD:2312937 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12207631 MIR1306 microRNA mir-1306 gene DOID:12849 autistic disorder ISO RGD:2312937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12207631 MIR1306 microRNA mir-1306 gene DOID:5419 schizophrenia ISO RGD:2312937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12207631 MIR1306 microRNA mir-1306 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2312937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12207631 MIR1306 microRNA mir-1306 gene DOID:9007661 Dwarfism ISO RGD:2312937 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12207631 MIR1306 microRNA mir-1306 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2312937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12207710 ANPEP alanyl aminopeptidase, membrane gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:737099 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12207710 ANPEP alanyl aminopeptidase, membrane gene DOID:11054 urinary bladder cancer ISO RGD:737099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 12207710 ANPEP alanyl aminopeptidase, membrane gene DOID:2717 Bloom syndrome ISO RGD:737099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12207710 ANPEP alanyl aminopeptidase, membrane gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:737099 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 12207710 ANPEP alanyl aminopeptidase, membrane gene DOID:630 genetic disease ISO RGD:737099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207710 ANPEP alanyl aminopeptidase, membrane gene DOID:9256 colorectal cancer ISO RGD:737099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12207733 SHKBP1 SH3KBP1 binding protein 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1352927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12207733 SHKBP1 SH3KBP1 binding protein 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1352927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12207733 SHKBP1 SH3KBP1 binding protein 1 gene DOID:2340 craniosynostosis ISO RGD:1352927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12207733 SHKBP1 SH3KBP1 binding protein 1 gene DOID:630 genetic disease ISO RGD:1352927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207733 SHKBP1 SH3KBP1 binding protein 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1352927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12207733 SHKBP1 SH3KBP1 binding protein 1 gene DOID:9269 maple syrup urine disease ISO RGD:1352927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12207755 ZNF576 zinc finger protein 576 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1353037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12207755 ZNF576 zinc finger protein 576 gene DOID:5419 schizophrenia ISO RGD:1353037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12207755 ZNF576 zinc finger protein 576 gene DOID:630 genetic disease ISO RGD:1353037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207768 OR56A3E olfactory receptor family 56 subfamily A member 3E gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1351120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12207768 OR56A3E olfactory receptor family 56 subfamily A member 3E gene DOID:630 genetic disease ISO RGD:1351120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207771 ANK2 ankyrin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:28492532 12207771 ANK2 ankyrin 2 gene DOID:0050451 Brugada syndrome ISO RGD:1317291 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:23631430|PMID:23861362|PMID:25741868|PMID:26230511|PMID:28492532|PMID:30847666 12207771 ANK2 ankyrin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12571597|PMID:15075330|PMID:15178757|PMID:16253912|PMID:17161064|PMID:17242276|PMID:18782775|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24448499|PMID:24828792|PMID:25351510|PMID:25649125|PMID:25741868|PMID:26159999|PMID:26168218|PMID:26230511|PMID:27298202|PMID:27435932|PMID:28074886|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28750076|PMID:28988457|PMID:30276209|PMID:30615648|PMID:31638414|PMID:33029862 12207771 ANK2 ankyrin 2 gene DOID:0050790 fibular hypoplasia and complex brachydactyly ISO RGD:1317291 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Du pan syndrome PMID:228900|PMID:258150 12207771 ANK2 ankyrin 2 gene DOID:0050824 sinoatrial node disease ISO RGD:1620669 D RGD:9068941 20220825 MouseDO 12207771 ANK2 ankyrin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12207771 ANK2 ankyrin 2 gene DOID:0060224 atrial fibrillation ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:17161064|PMID:23861362|PMID:24448499|PMID:25649125|PMID:25741868|PMID:26159999|PMID:28492532 12207771 ANK2 ankyrin 2 gene DOID:0060224 atrial fibrillation onset ISO RGD:1317291 D RGD:9068941 20200609 RGD PMID:21859974|REF_RGD_ID:6767284 12207771 ANK2 ankyrin 2 gene DOID:0060319 cardiac arrest ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:25741868|PMID:28492532|PMID:28600387|PMID:30564305 12207771 ANK2 ankyrin 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:16253912|PMID:22581653|PMID:25351510|PMID:25741868|PMID:26771585|PMID:28191889|PMID:28492532|PMID:30564305 12207771 ANK2 ankyrin 2 gene DOID:0070188 spermatogenic failure 1 ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligosynaptic infertility PMID:228900|PMID:258150 12207771 ANK2 ankyrin 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:1317291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:12571597|PMID:15178757|PMID:16253912|PMID:16650839|PMID:17242276|PMID:18832177|PMID:22581653|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26350513|PMID:28074886|PMID:28492532|PMID:28988457|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29790872|PMID:7485162 12207771 ANK2 ankyrin 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:1317291 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:12571597|PMID:15178757|PMID:17242276|PMID:25741868|PMID:26230511|PMID:28492532 12207771 ANK2 ankyrin 2 gene DOID:0111700 ankyrin-B-related cardiac arrhythmia ISO RGD:1317291 D RGD:7240710 20180130 OMIM 12207771 ANK2 ankyrin 2 gene DOID:0111700 ankyrin-B-related cardiac arrhythmia ISO RGD:1317291 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ANK2-associated Complex Neurodevelopmental Disorder | ClinVar Annotator: match by term: ANK2-associated Neurodevelopmental Disorder | ClinVar Annotator: match by term: ANK2-related Autism | ClinVar Annotator: match by term: ANKYRIN-B SYNDROME | ClinVar Annotator: match by term: Cardiac arrhythmia, ankyrin-B-related PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24828792|PMID:25333069|PMID:25351510|PMID:25447171|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25741868|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26230511|PMID:26350513|PMID:26771585|PMID:26899768|PMID:27110552|PMID:27112610|PMID:27298202|PMID:27332903|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27824329|PMID:27871843|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28263302|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28831199|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29706635|PMID:29790872|PMID:29874177|PMID:29892012|PMID:30086531|PMID:30276209|PMID:30471092|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:31638414|PMID:31737537|PMID:31862442|PMID:32183154|PMID:32746448|PMID:33004838|PMID:33029862|PMID:34088380|PMID:7485162 12207771 ANK2 ankyrin 2 gene DOID:0111701 long QT syndrome 4 ISO RGD:1317291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANK2-associated Complex Neurodevelopmental Disorder | ClinVar Annotator: match by term: ANK2-associated Neurodevelopmental Disorder | ClinVar Annotator: match by term: ANK2-related Autism | ClinVar Annotator: match by term: Long QT syndrome 4 PMID:12571597|PMID:15075330|PMID:15178757|PMID:16253912|PMID:17242276|PMID:18782775|PMID:18832177|PMID:22581653|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26350513|PMID:27435932|PMID:28074886|PMID:28492532|PMID:28988457|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29790872|PMID:30615648|PMID:7485162 12207771 ANK2 ankyrin 2 gene DOID:1059 intellectual disability ISO RGD:1317291 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23396983|PMID:25351510|PMID:25741868|PMID:28255936|PMID:28492532|PMID:30847666 12207771 ANK2 ankyrin 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317291 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:12571597|PMID:15178757|PMID:17242276|PMID:22581653|PMID:23174487|PMID:25741868|PMID:26230511|PMID:28492532|PMID:28589536|PMID:28988457|PMID:30276209|PMID:31638414 12207771 ANK2 ankyrin 2 gene DOID:12271 aniridia ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 12207771 ANK2 ankyrin 2 gene DOID:12849 autistic disorder ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior 12207771 ANK2 ankyrin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:25351510|PMID:25741868|PMID:28341588|PMID:28492532|PMID:30415094|PMID:33004838 12207771 ANK2 ankyrin 2 gene DOID:13884 sick sinus syndrome susceptibility ISO RGD:1317291 D RGD:9068941 20200609 RGD PMID:15178757|REF_RGD_ID:1599114 12207771 ANK2 ankyrin 2 gene DOID:224 transient cerebral ischemia ISO RGD:620156 D RGD:9068941 20200609 RGD PMID:9202331|REF_RGD_ID:1599109 12207771 ANK2 ankyrin 2 gene DOID:2843 long QT syndrome ISO RGD:1317291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24981977|PMID:25333069|PMID:25351510|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25741868|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26230511|PMID:26350513|PMID:27110552|PMID:27298202|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27854218|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28341588|PMID:28492532|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29790872|PMID:29874177|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:7485162|PMID:9536098 12207771 ANK2 ankyrin 2 gene DOID:2843 long QT syndrome ISO RGD:1317291 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24828792|PMID:24981977|PMID:25333069|PMID:25351510|PMID:25447171|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25661095|PMID:25741868|PMID:25877686|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26220970|PMID:26230511|PMID:26350513|PMID:26899768|PMID:27005929|PMID:27110552|PMID:27298202|PMID:27332903|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27824329|PMID:27871843|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28263302|PMID:28341588|PMID:28492532|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28831199|PMID:28855170|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29706635|PMID:29790872|PMID:29874177|PMID:29892012|PMID:30036649|PMID:30086531|PMID:30369311|PMID:30415094|PMID:30471092|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:31264976|PMID:31638414|PMID:31862442|PMID:33004838|PMID:33029862|PMID:33919104|PMID:34088380|PMID:7485162|PMID:9536098 12207771 ANK2 ankyrin 2 gene DOID:2843 long QT syndrome ISO RGD:1317291 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24828792|PMID:24981977|PMID:25333069|PMID:25351510|PMID:25447171|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25661095|PMID:25741868|PMID:25877686|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26220970|PMID:26230511|PMID:26350513|PMID:26899768|PMID:27005929|PMID:27110552|PMID:27298202|PMID:27332903|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27824329|PMID:27871843|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28263302|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28831199|PMID:28855170|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29706635|PMID:29790872|PMID:29874177|PMID:29892012|PMID:30036649|PMID:30086531|PMID:30276209|PMID:30369311|PMID:30415094|PMID:30471092|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:31264976|PMID:31638414|PMID:31862442|PMID:33004838|PMID:33029862|PMID:33919104|PMID:34088380|PMID:7485162|PMID:9536098 12207771 ANK2 ankyrin 2 gene DOID:2843 long QT syndrome ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16199547|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24828792|PMID:24981977|PMID:25333069|PMID:25351510|PMID:25447171|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25661095|PMID:25741868|PMID:25877686|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26220970|PMID:26230511|PMID:26350513|PMID:26771585|PMID:26899768|PMID:27005929|PMID:27110552|PMID:27298202|PMID:27332903|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27824329|PMID:27854218|PMID:27871843|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28263302|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28831199|PMID:28855170|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29706635|PMID:29790872|PMID:29874177|PMID:29892012|PMID:30036649|PMID:30086531|PMID:30276209|PMID:30369311|PMID:30415094|PMID:30471092|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:31264976|PMID:31638414|PMID:31737537|PMID:31862442|PMID:32183154|PMID:32233023|PMID:32600061|PMID:32746448|PMID:33004838|PMID:33029862|PMID:33762593|PMID:33919104|PMID:34088380|PMID:7485162|PMID:9536098 12207771 ANK2 ankyrin 2 gene DOID:2843 long QT syndrome ISO RGD:1317291 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16199547|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24828792|PMID:24981977|PMID:25333069|PMID:25351510|PMID:25447171|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25661095|PMID:25741868|PMID:25877686|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26220970|PMID:26230511|PMID:26350513|PMID:26771585|PMID:26899768|PMID:27005929|PMID:27110552|PMID:27298202|PMID:27332903|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27824329|PMID:27871843|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28263302|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28831199|PMID:28855170|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29706635|PMID:29790872|PMID:29874177|PMID:29892012|PMID:30036649|PMID:30086531|PMID:30276209|PMID:30369311|PMID:30415094|PMID:30471092|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:31264976|PMID:31638414|PMID:31737537|PMID:31862442|PMID:32183154|PMID:32233023|PMID:32508047|PMID:32600061|PMID:32746448|PMID:33004838|PMID:33029862|PMID:33762593|PMID:33919104|PMID:34088380|PMID:7485162|PMID:9536098 12207771 ANK2 ankyrin 2 gene DOID:2843 long QT syndrome susceptibility ISO RGD:1317291 D RGD:9068941 20200609 RGD PMID:12571597|REF_RGD_ID:734572 12207771 ANK2 ankyrin 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:28492532 12207771 ANK2 ankyrin 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1317291 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28191889|PMID:28492532|PMID:32233023 12207771 ANK2 ankyrin 2 gene DOID:6000 congestive heart failure ISO RGD:1317291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868|PMID:28492532 12207771 ANK2 ankyrin 2 gene DOID:630 genetic disease ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15262991|PMID:16253912|PMID:17576681|PMID:18790697|PMID:22581653|PMID:25351510|PMID:25741868|PMID:26771585|PMID:27784853|PMID:28191889|PMID:28492532|PMID:30564305|PMID:32183154|PMID:9536098 12207771 ANK2 ankyrin 2 gene DOID:9000006 Supraventricular Tachycardia ISO RGD:1317291 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:23861362|PMID:25741868|PMID:27871843|PMID:28492532 12207771 ANK2 ankyrin 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:11334825|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17928548|PMID:17940615|PMID:18782775|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:25333069|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26168218|PMID:27298202|PMID:27435932|PMID:28074886|PMID:28492532|PMID:30615648 12207771 ANK2 ankyrin 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:11334825|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:17242276|PMID:17261669|PMID:22581653|PMID:23861362|PMID:25333069|PMID:25741868|PMID:28492532 12207771 ANK2 ankyrin 2 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:12571597|PMID:15178757|PMID:16253912|PMID:16650839|PMID:17242276|PMID:17928548|PMID:17940615|PMID:18832177|PMID:19394342|PMID:22411828|PMID:22581653|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24981977|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26350513|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28988457|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29790872|PMID:33919104|PMID:7485162 12207771 ANK2 ankyrin 2 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1317291 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:23861362|PMID:25741868|PMID:26230511|PMID:28492532|PMID:30847666 12207771 ANK2 ankyrin 2 gene DOID:9002955 Nerve Degeneration ISO RGD:620156 D RGD:9068941 20200609 RGD PMID:12949909|REF_RGD_ID:1599116 12207771 ANK2 ankyrin 2 gene DOID:9003163 Heart Block ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:12571597|PMID:15178757|PMID:16253912|PMID:16650839|PMID:17242276|PMID:17928548|PMID:17940615|PMID:18832177|PMID:19394342|PMID:22411828|PMID:22581653|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24981977|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26350513|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28988457|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29790872|PMID:33919104|PMID:7485162 12207771 ANK2 ankyrin 2 gene DOID:9003516 Channelopathies ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Channelopathy 12207771 ANK2 ankyrin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 12207771 ANK2 ankyrin 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1317291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:12571597|PMID:15178757|PMID:16253912|PMID:16650839|PMID:17242276|PMID:18832177|PMID:22581653|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26350513|PMID:28074886|PMID:28492532|PMID:28988457|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29790872|PMID:7485162 12207771 ANK2 ankyrin 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1317291 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28191889|PMID:28492532|PMID:33004838 12207771 ANK2 ankyrin 2 gene DOID:9005444 Torsades de Pointes ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Torsades de pointes PMID:17161064|PMID:22581653 12207771 ANK2 ankyrin 2 gene DOID:9006030 Infant Death ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Death in infancy PMID:15075330|PMID:15178757|PMID:16253912|PMID:18782775|PMID:22581653|PMID:23631430|PMID:23861362|PMID:24025405|PMID:25351510|PMID:25741868|PMID:27435932|PMID:28492532|PMID:30615648 12207771 ANK2 ankyrin 2 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:28492532 12207771 ANK2 ankyrin 2 gene DOID:9007096 Stroke ISO RGD:1317291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 12207771 ANK2 ankyrin 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620156 D RGD:9068941 20200609 RGD PMID:9378703|REF_RGD_ID:1599110 12207771 ANK2 ankyrin 2 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868|PMID:28492532 12207845 OR6Y1P olfactory receptor family 6 subfamily Y member 1, pseudogene gene DOID:1540 parathyroid carcinoma ISO RGD:1347188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12207845 OR6Y1P olfactory receptor family 6 subfamily Y member 1, pseudogene gene DOID:630 genetic disease ISO RGD:1347188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207845 OR6Y1P olfactory receptor family 6 subfamily Y member 1, pseudogene gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12207860 AFF2 ALF transcription elongation factor 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12207860 AFF2 ALF transcription elongation factor 2 gene DOID:0060811 syndromic X-linked intellectual disability Turner type ISO RGD:1343236 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type PMID:25741868 12207860 AFF2 ALF transcription elongation factor 2 gene DOID:0080984 X-linked intellectual developmental disorder 109 ISO RGD:1343236 D RGD:7240710 20210421 OMIM 12207860 AFF2 ALF transcription elongation factor 2 gene DOID:0080984 X-linked intellectual developmental disorder 109 ISO RGD:1343236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 109 PMID:18414213|PMID:21739600|PMID:22773736|PMID:23562910|PMID:25741868|PMID:28492532 12207860 AFF2 ALF transcription elongation factor 2 gene DOID:1059 intellectual disability ISO RGD:1343236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25741868|PMID:28492532 12207860 AFF2 ALF transcription elongation factor 2 gene DOID:12849 autistic disorder ISO RGD:1343236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12207860 AFF2 ALF transcription elongation factor 2 gene DOID:14261 fragile X syndrome ISO RGD:1343236 D RGD:9068941 20210430 CTD CTD Direct Evidence: marker/mechanism 12207860 AFF2 ALF transcription elongation factor 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1343236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12207860 AFF2 ALF transcription elongation factor 2 gene DOID:630 genetic disease ISO RGD:1343236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12207860 AFF2 ALF transcription elongation factor 2 gene DOID:9000991 SULEIMAN-EL-HATTAB SYNDROME ISO RGD:1343236 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Suleiman-El-Hattab syndrome PMID:25741868 12207860 AFF2 ALF transcription elongation factor 2 gene DOID:9007661 Dwarfism ISO RGD:1343236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12207883 VDAC3 voltage dependent anion channel 3 gene DOID:0090039 torsion dystonia 6 ISO RGD:733844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 12207883 VDAC3 voltage dependent anion channel 3 gene DOID:0111959 immunodeficiency 15B ISO RGD:733844 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 12207883 VDAC3 voltage dependent anion channel 3 gene DOID:630 genetic disease ISO RGD:733844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207883 VDAC3 voltage dependent anion channel 3 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:733844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 12207898 MAP7D1 MAP7 domain containing 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12207898 MAP7D1 MAP7 domain containing 1 gene DOID:630 genetic disease ISO RGD:1603999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207930 NPPC natriuretic peptide C gene DOID:0060476 Perlman syndrome ISO RGD:1351265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12207930 NPPC natriuretic peptide C gene DOID:0080006 bone development disease ISO RGD:1351265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 12207930 NPPC natriuretic peptide C gene DOID:0110991 Joubert syndrome 22 ISO RGD:1351265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12207930 NPPC natriuretic peptide C gene DOID:10763 hypertension ISO RGD:1351265 D RGD:9068941 20200609 RGD PMID:12452325|REF_RGD_ID:1580150 12207930 NPPC natriuretic peptide C gene DOID:10763 hypertension severity ISO RGD:1351265 D RGD:9068941 20200609 RGD associated with Pregnancy Complications;protein:increased expression:plasma PMID:11775888|REF_RGD_ID:1642292 12207930 NPPC natriuretic peptide C gene DOID:114 heart disease ISO RGD:620850 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:heart PMID:10828832|REF_RGD_ID:1642294 12207930 NPPC natriuretic peptide C gene DOID:1222 cartilage disease ISO RGD:1351265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17676597 12207930 NPPC natriuretic peptide C gene DOID:14115 toxic shock syndrome ISO RGD:1351265 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8117275|REF_RGD_ID:1642297 12207930 NPPC natriuretic peptide C gene DOID:1712 aortic valve stenosis ISO RGD:620850 D RGD:9068941 20200609 RGD mRNA:decreased expression:aortic valve PMID:17709640|REF_RGD_ID:1642267 12207930 NPPC natriuretic peptide C gene DOID:2256 osteochondrodysplasia ISO RGD:1551929 D RGD:9068941 20220825 MouseDO 12207930 NPPC natriuretic peptide C gene DOID:2349 arteriosclerosis ISO RGD:1351265 D RGD:9068941 20200609 RGD PMID:8989116|REF_RGD_ID:1642296 12207930 NPPC natriuretic peptide C gene DOID:4480 achondroplasia ISO RGD:1551929 D RGD:9068941 20220825 MouseDO OMIM:100800 12207930 NPPC natriuretic peptide C gene DOID:5199 ureteral obstruction ISO RGD:1351265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26207612 12207930 NPPC natriuretic peptide C gene DOID:630 genetic disease ISO RGD:1351265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12207930 NPPC natriuretic peptide C gene DOID:783 end stage renal disease ISO RGD:1351265 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8117275|REF_RGD_ID:1642297 12207930 NPPC natriuretic peptide C gene DOID:783 end stage renal disease ISO RGD:1351265 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:8743538|REF_RGD_ID:1580770 12207930 NPPC natriuretic peptide C gene DOID:9002362 Hyperkinesis ISO RGD:1351265 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11860464 12207930 NPPC natriuretic peptide C gene DOID:9002669 Hypoxia ISO RGD:620850 D RGD:9068941 20200609 RGD protein:increased expression:lung, plasma PMID:16677483|REF_RGD_ID:1642268 12207930 NPPC natriuretic peptide C gene DOID:9006257 Growth Disorders ISO RGD:1351265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17676597 12207930 NPPC natriuretic peptide C gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620850 D RGD:9068941 20200609 RGD PMID:15337698|REF_RGD_ID:1580149 12207937 C10H2orf74 chromosome 10 C2orf74 homolog gene DOID:0050545 visceral heterotaxy ISO RGD:1615887 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 12207937 C10H2orf74 chromosome 10 C2orf74 homolog gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:2298736 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:28492532 12207948 LMBR1L limb development membrane protein 1 like gene DOID:630 genetic disease ISO RGD:1603995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207969 ADPRH ADP-ribosylarginine hydrolase gene DOID:0080600 COVID-19 ISO RGD:732427 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12207969 ADPRH ADP-ribosylarginine hydrolase gene DOID:630 genetic disease ISO RGD:732427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12207969 ADPRH ADP-ribosylarginine hydrolase gene DOID:9007702 Carcinogenesis ISO RGD:10094 D RGD:9068941 20200609 RGD PMID:21697277|REF_RGD_ID:13838723 12208021 PKDREJ polycystin family receptor for egg jelly gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1315287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12208021 PKDREJ polycystin family receptor for egg jelly gene DOID:1059 intellectual disability ISO RGD:1315287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12208021 PKDREJ polycystin family receptor for egg jelly gene DOID:630 genetic disease ISO RGD:1315287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208026 EEF1D eukaryotic translation elongation factor 1 delta gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1323465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12208026 EEF1D eukaryotic translation elongation factor 1 delta gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1323465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12208026 EEF1D eukaryotic translation elongation factor 1 delta gene DOID:1059 intellectual disability ISO RGD:1323465 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability PMID:30787422 12208026 EEF1D eukaryotic translation elongation factor 1 delta gene DOID:4621 holoprosencephaly ISO RGD:1323465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12208026 EEF1D eukaryotic translation elongation factor 1 delta gene DOID:630 genetic disease ISO RGD:1323465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208026 EEF1D eukaryotic translation elongation factor 1 delta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323465 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28097321|PMID:30787422 12208041 GFUS GDP-L-fucose synthase gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1315979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12208041 GFUS GDP-L-fucose synthase gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1315979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12208041 GFUS GDP-L-fucose synthase gene DOID:4621 holoprosencephaly ISO RGD:1315979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12208041 GFUS GDP-L-fucose synthase gene DOID:630 genetic disease ISO RGD:1315979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208058 GSTK1 glutathione S-transferase kappa 1 gene DOID:630 genetic disease ISO RGD:1606879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208058 GSTK1 glutathione S-transferase kappa 1 gene DOID:8398 osteoarthritis ISO RGD:1606879 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12208058 GSTK1 glutathione S-transferase kappa 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606879 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12208070 EML2 EMAP like 2 gene DOID:630 genetic disease ISO RGD:734198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208107 HEATR1 HEAT repeat containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1605668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12208107 HEATR1 HEAT repeat containing 1 gene DOID:3068 glioblastoma ISO RGD:1605668 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:25126583|REF_RGD_ID:10761721 12208107 HEATR1 HEAT repeat containing 1 gene DOID:3587 pancreatic ductal carcinoma treatment ISO RGD:1605668 D RGD:9068941 20200609 RGD PMID:26676747|REF_RGD_ID:10761108 12208107 HEATR1 HEAT repeat containing 1 gene DOID:630 genetic disease ISO RGD:1605668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208107 HEATR1 HEAT repeat containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12208156 RPL12 ribosomal protein L12 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12208156 RPL12 ribosomal protein L12 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1314871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12208156 RPL12 ribosomal protein L12 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12208156 RPL12 ribosomal protein L12 gene DOID:630 genetic disease ISO RGD:1314871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208156 RPL12 ribosomal protein L12 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12208156 RPL12 ribosomal protein L12 gene DOID:9074 systemic lupus erythematosus ISO RGD:1314871 D RGD:9068941 20200609 RGD PMID:11161982|REF_RGD_ID:11035232 12208172 HCCS holocytochrome c synthase gene DOID:0080600 COVID-19 ISO RGD:1352684 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12208172 HCCS holocytochrome c synthase gene DOID:0111808 linear skin defects with multiple congenital anomalies 1 ISO RGD:1352684 D RGD:7240710 20180130 OMIM 12208172 HCCS holocytochrome c synthase gene DOID:0111808 linear skin defects with multiple congenital anomalies 1 ISO RGD:1352684 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1 PMID:16059943|PMID:17033964|PMID:17893649|PMID:25741868 12208172 HCCS holocytochrome c synthase gene DOID:1059 intellectual disability ISO RGD:1352684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25741868|PMID:28492532 12208172 HCCS holocytochrome c synthase gene DOID:10629 microphthalmia ISO RGD:1352684 D RGD:9068941 20200609 RGD microphthalmia with linear skin defects, OMIM:309801, DNA:point mutations:exon:R197X, R217C PMID:17033964|REF_RGD_ID:1600417 12208172 HCCS holocytochrome c synthase gene DOID:10629 microphthalmia ISO RGD:1558032 D RGD:9068941 20220825 MouseDO OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 12208172 HCCS holocytochrome c synthase gene DOID:12849 autistic disorder ISO RGD:1352684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12208172 HCCS holocytochrome c synthase gene DOID:630 genetic disease ISO RGD:1352684 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 12208172 HCCS holocytochrome c synthase gene DOID:9001946 Skin Abnormalities ISO RGD:1352684 D RGD:9068941 20200609 RGD microphthalmia with linear skin defects, OMIM:309801, DNA:point mutations:exon:R197X, R217C PMID:17033964|REF_RGD_ID:1600417 12208172 HCCS holocytochrome c synthase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12208185 LIN28B lin-28 homolog B gene DOID:14566 disease of cellular proliferation ISO RGD:1604919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19483683 12208185 LIN28B lin-28 homolog B gene DOID:630 genetic disease ISO RGD:1604919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208185 LIN28B lin-28 homolog B gene DOID:769 neuroblastoma ISO RGD:1604919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941191|PMID:23042116 12208185 LIN28B lin-28 homolog B gene DOID:769 neuroblastoma ISO RGD:1615523 D RGD:9068941 20220825 MouseDO OMIM:256700 | OMIM:613013 | OMIM:613015 | OMIM:613016 12208185 LIN28B lin-28 homolog B gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1604919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19483683 12208193 GIMAP8 GTPase, IMAP family member 8 gene DOID:2843 long QT syndrome ISO RGD:1344762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 12208193 GIMAP8 GTPase, IMAP family member 8 gene DOID:630 genetic disease ISO RGD:1344762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208201 GIMAP6 GTPase, IMAP family member 6 gene DOID:2843 long QT syndrome ISO RGD:1603796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 12208201 GIMAP6 GTPase, IMAP family member 6 gene DOID:612 primary immunodeficiency disease ISO RGD:1603796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary Immune Deficiency PMID:25741868|PMID:33328581 12208201 GIMAP6 GTPase, IMAP family member 6 gene DOID:630 genetic disease ISO RGD:1603796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208208 NRG1 neuregulin 1 gene DOID:0070082 schizophrenia 6 susceptibility ISO RGD:731515 D RGD:7240710 20230505 OMIM 12208208 NRG1 neuregulin 1 gene DOID:0070355 overactive bladder syndrome treatment ISO RGD:621341 D RGD:9068941 20200609 RGD PMID:24152577|REF_RGD_ID:10449030 12208208 NRG1 neuregulin 1 gene DOID:0080600 COVID-19 ISO RGD:731515 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12208208 NRG1 neuregulin 1 gene DOID:10487 Hirschsprung's disease ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22974608 12208208 NRG1 neuregulin 1 gene DOID:10595 Charcot-Marie-Tooth disease treatment ISO RGD:731515 D RGD:9068941 20200609 RGD PMID:25150498|REF_RGD_ID:10449027 12208208 NRG1 neuregulin 1 gene DOID:10652 Alzheimer's disease ISO RGD:731515 D RGD:9068941 20200609 RGD PMID:12528817|REF_RGD_ID:10449002 12208208 NRG1 neuregulin 1 gene DOID:10652 Alzheimer's disease ISO RGD:735609 D RGD:9068941 20200609 RGD PMID:12528817|REF_RGD_ID:10449002 12208208 NRG1 neuregulin 1 gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:731515 D RGD:9068941 20210212 RGD PMID:29295823|REF_RGD_ID:41404730 12208208 NRG1 neuregulin 1 gene DOID:10808 gastric ulcer ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16357062 12208208 NRG1 neuregulin 1 gene DOID:11446 sciatic neuropathy treatment ISO RGD:621341 D RGD:9068941 20200609 RGD PMID:20957456|REF_RGD_ID:10449012 12208208 NRG1 neuregulin 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12208208 NRG1 neuregulin 1 gene DOID:11832 visual epilepsy ISO RGD:621341 D RGD:9068941 20200609 RGD PMID:22158510|REF_RGD_ID:10449024 12208208 NRG1 neuregulin 1 gene DOID:1307 dementia treatment ISO RGD:731515 D RGD:9068941 20200609 RGD PMID:21473886|REF_RGD_ID:10054040 12208208 NRG1 neuregulin 1 gene DOID:14069 cerebral malaria ISO RGD:735609 D RGD:9068941 20201001 RGD mRNA, protein:increased expression:cerebral cortex (mouse) PMID:29636063|REF_RGD_ID:39456084 12208208 NRG1 neuregulin 1 gene DOID:14069 cerebral malaria treatment ISO RGD:731515 D RGD:9068941 20201002 RGD human protein in a mouse model PMID:24433482|REF_RGD_ID:39456102 12208208 NRG1 neuregulin 1 gene DOID:1470 major depressive disorder ISO RGD:731515 D RGD:9068941 20210212 RGD mRNA:increased expression:prefrontal cortex PMID:29295823|REF_RGD_ID:41404730 12208208 NRG1 neuregulin 1 gene DOID:2394 ovarian cancer treatment ISO RGD:731515 D RGD:9068941 20201002 RGD mRNA, protein:increased expression:ovary, fallopian tube, peritoneum (human) PMID:27998236|REF_RGD_ID:39456103 12208208 NRG1 neuregulin 1 gene DOID:2468 psychotic disorder no_association ISO RGD:731515 D RGD:9068941 20200609 RGD associated with Alzheimer Disease;DNA:missense mutation, SNP:cds, enhancer: (rs3924999, rs35753505) (human) PMID:20182055|REF_RGD_ID:10449000 12208208 NRG1 neuregulin 1 gene DOID:2468 psychotic disorder susceptibility ISO RGD:731515 D RGD:9068941 20200609 RGD associated with Alzheimer's disease;DNA:missense mutation, haplotype:cds: (rs3924999) (human) PMID:16082692|REF_RGD_ID:10449035 12208208 NRG1 neuregulin 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:731515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 12208208 NRG1 neuregulin 1 gene DOID:2773 contact dermatitis ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12208208 NRG1 neuregulin 1 gene DOID:3178 skin papilloma ISO RGD:731515 D RGD:9068941 20201001 RGD DNA:hypermethylation: PMID:31892232|REF_RGD_ID:39456089 12208208 NRG1 neuregulin 1 gene DOID:3312 bipolar disorder ISO RGD:731515 D RGD:9068941 20201001 RGD DNA:SNP:enhancer: (rs35753505) PMID:18585932|REF_RGD_ID:39131291 12208208 NRG1 neuregulin 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:731515 D RGD:9068941 20200609 RGD PMID:20691195|REF_RGD_ID:10449015 12208208 NRG1 neuregulin 1 gene DOID:399 tuberculosis susceptibility ISO RGD:731515 D RGD:9068941 20201001 RGD DNA:SNP, haplotype: (rs16879814) PMID:25919455|REF_RGD_ID:39456091 12208208 NRG1 neuregulin 1 gene DOID:480 movement disease ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22226049 12208208 NRG1 neuregulin 1 gene DOID:5419 schizophrenia ISO RGD:621341 D RGD:9068941 20210423 RGD protein:increased expression:prefrontal cortex, hippocampus PMID:20467458|REF_RGD_ID:126790484 12208208 NRG1 neuregulin 1 gene DOID:5419 schizophrenia ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12145742|PMID:17333138|PMID:17460065|PMID:17905522|PMID:20561508|PMID:20582876|PMID:20701826 12208208 NRG1 neuregulin 1 gene DOID:5419 schizophrenia ISO RGD:735609 D RGD:9068941 20220825 MouseDO OMIM:181500 12208208 NRG1 neuregulin 1 gene DOID:571 median neuropathy ISO RGD:621341 D RGD:9068941 20200609 RGD PMID:19296522|REF_RGD_ID:10449020 12208208 NRG1 neuregulin 1 gene DOID:5844 myocardial infarction treatment ISO RGD:731515 D RGD:9068941 20200609 RGD PMID:24200746|REF_RGD_ID:10449026 12208208 NRG1 neuregulin 1 gene DOID:6000 congestive heart failure ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19801490 12208208 NRG1 neuregulin 1 gene DOID:630 genetic disease ISO RGD:731515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208208 NRG1 neuregulin 1 gene DOID:670 amphetamine abuse ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12208208 NRG1 neuregulin 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12208208 NRG1 neuregulin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:731515 D RGD:9068941 20201002 RGD mRNA:increased expression:liver (human) PMID:27514687|REF_RGD_ID:39456110 12208208 NRG1 neuregulin 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731515 D RGD:9068941 20201002 RGD associated with hepatitis C;mRNA:altered expression:liver (human PMID:17393520|REF_RGD_ID:39456104 12208208 NRG1 neuregulin 1 gene DOID:8469 influenza ISO RGD:735609 D RGD:9068941 20201001 RGD neurotropic influenza A in Tap1-/- strain;mRNA (type III):decreased expression:prefrontal cortex (mouse) PMID:19362585|REF_RGD_ID:39456087 12208208 NRG1 neuregulin 1 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:731515 D RGD:9068941 20220421 RGD PMID:28756200|REF_RGD_ID:151893490 12208208 NRG1 neuregulin 1 gene DOID:9000469 Viral Myocarditis ISO RGD:735609 D RGD:9068941 20201001 RGD associated with Coxsackievirus Infections;protein:increased expression:heart (mouse) PMID:31396490|REF_RGD_ID:39131284 12208208 NRG1 neuregulin 1 gene DOID:9000641 Pain ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561508 12208208 NRG1 neuregulin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12208208 NRG1 neuregulin 1 gene DOID:9002211 Hyperalgesia ISO RGD:621341 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:22212401|REF_RGD_ID:10449019 12208208 NRG1 neuregulin 1 gene DOID:9002371 Cardiotoxicity ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29305325 12208208 NRG1 neuregulin 1 gene DOID:9002514 Neointima ISO RGD:621341 D RGD:9068941 20200609 RGD PMID:17438359|REF_RGD_ID:2289992 12208208 NRG1 neuregulin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19617202 12208208 NRG1 neuregulin 1 gene DOID:9005172 Lung Neoplasms ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28604730 12208208 NRG1 neuregulin 1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:621341 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expresssion:left ventricle myocardium PMID:22285193|REF_RGD_ID:10449013 12208208 NRG1 neuregulin 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19617202 12208208 NRG1 neuregulin 1 gene DOID:9007956 Febrile Seizures ISO RGD:731515 D RGD:9068941 20201002 RGD associated with influenza;mRNA:increased expression:blood (human) PMID:16690933|REF_RGD_ID:39456106 12208208 NRG1 neuregulin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19617202 12208208 NRG1 neuregulin 1 gene DOID:9743 diabetic neuropathy treatment ISO RGD:621341 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24288572|REF_RGD_ID:10053667 12208251 ANAPC11 anaphase promoting complex subunit 11 gene DOID:630 genetic disease ISO RGD:1343647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208262 MFSD12 major facilitator superfamily domain containing 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12208276 DGKD diacylglycerol kinase delta gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:1323100 D RGD:9068941 20220825 MouseDO OMIM:606369 12208276 DGKD diacylglycerol kinase delta gene DOID:0060476 Perlman syndrome ISO RGD:1323099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12208276 DGKD diacylglycerol kinase delta gene DOID:0110991 Joubert syndrome 22 ISO RGD:1323099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12208276 DGKD diacylglycerol kinase delta gene DOID:630 genetic disease ISO RGD:1323099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12208276 DGKD diacylglycerol kinase delta gene DOID:9352 type 2 diabetes mellitus ISO RGD:1323099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 12208319 LOC486353 SEC14-like protein 4 gene DOID:630 genetic disease ISO RGD:1343842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208335 CSAD cysteine sulfinic acid decarboxylase gene DOID:630 genetic disease ISO RGD:732204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208335 CSAD cysteine sulfinic acid decarboxylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 12208357 ABCC12 ATP binding cassette subfamily C member 12 gene DOID:0111041 glycogen storage disease IXb ISO RGD:1342698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 12208357 ABCC12 ATP binding cassette subfamily C member 12 gene DOID:4961 bone marrow disease ISO RGD:1342698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18466103 12208357 ABCC12 ATP binding cassette subfamily C member 12 gene DOID:630 genetic disease ISO RGD:1342698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208357 ABCC12 ATP binding cassette subfamily C member 12 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1342698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18466103 12208391 RNF182 ring finger protein 182 gene DOID:630 genetic disease ISO RGD:1351673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208391 RNF182 ring finger protein 182 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 12208391 RNF182 ring finger protein 182 gene DOID:9008939 Breast Neoplasms ISO RGD:1351673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 12208397 SPC25 SPC25 component of NDC80 kinetochore complex gene DOID:630 genetic disease ISO RGD:1606531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208397 SPC25 SPC25 component of NDC80 kinetochore complex gene DOID:684 hepatocellular carcinoma ISO RGD:1606531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12208408 SLC38A8 solute carrier family 38 member 8 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:2290191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12208408 SLC38A8 solute carrier family 38 member 8 gene DOID:14791 Leber congenital amaurosis ISO RGD:2290191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:17576681|PMID:28492532|PMID:28714225|PMID:33594928|PMID:9536098 12208408 SLC38A8 solute carrier family 38 member 8 gene DOID:630 genetic disease ISO RGD:2290191 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12208408 SLC38A8 solute carrier family 38 member 8 gene DOID:9001923 Foveal Hypoplasia ISO RGD:2290191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Foveal hypoplasia PMID:24045842 12208408 SLC38A8 solute carrier family 38 member 8 gene DOID:9005126 Malonic Aciduria ISO RGD:2290191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of malonyl-CoA decarboxylase PMID:12955715|PMID:17186413|PMID:28492532 12208408 SLC38A8 solute carrier family 38 member 8 gene DOID:9005271 Foveal Hypoplasia and Anterior Segment Dysgenesis ISO RGD:2290191 D RGD:7240710 20180130 OMIM 12208408 SLC38A8 solute carrier family 38 member 8 gene DOID:9005271 Foveal Hypoplasia and Anterior Segment Dysgenesis ISO RGD:2290191 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE DECUSSATION DEFECTS AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM | ClinVar Annotator: match by term: Foveal hypoplasia 2 | ClinVar Annotator: match by term: Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis PMID:19590516|PMID:24045842|PMID:24290379|PMID:25741868|PMID:28492532|PMID:28546991|PMID:29345414|PMID:32032626|PMID:33498813 12208408 SLC38A8 solute carrier family 38 member 8 gene DOID:9562 primary ciliary dyskinesia ISO RGD:2290191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12208422 PRKCB protein kinase C beta gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:731404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 12208422 PRKCB protein kinase C beta gene DOID:10003 sensorineural hearing loss ISO RGD:731404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27329761 12208422 PRKCB protein kinase C beta gene DOID:10325 silicosis ISO RGD:3396 D RGD:9068941 20200609 RGD protein:increased activation:alveolar macrophage PMID:14680365|REF_RGD_ID:1625527 12208422 PRKCB protein kinase C beta gene DOID:10652 Alzheimer's disease ISO RGD:731404 D RGD:9068941 20200609 RGD PMID:8534418|REF_RGD_ID:13825140 12208422 PRKCB protein kinase C beta gene DOID:10763 hypertension ISO RGD:3396 D RGD:9068941 20200609 RGD PMID:15804434|REF_RGD_ID:1625513 12208422 PRKCB protein kinase C beta gene DOID:12849 autistic disorder ISO RGD:731404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16027742 12208422 PRKCB protein kinase C beta gene DOID:12930 dilated cardiomyopathy ISO RGD:731404 D RGD:9068941 20200609 RGD PMID:9918525|REF_RGD_ID:1581274 12208422 PRKCB protein kinase C beta gene DOID:1824 status epilepticus ISO RGD:3396 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:15058486|REF_RGD_ID:1625525 12208422 PRKCB protein kinase C beta gene DOID:2914 immune system disease ISO RGD:1550017 D RGD:9068941 20200609 RGD PMID:12118249|REF_RGD_ID:737729 12208422 PRKCB protein kinase C beta gene DOID:3908 lung non-small cell carcinoma ISO RGD:731404 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter:lung PMID:28422739|REF_RGD_ID:13503321 12208422 PRKCB protein kinase C beta gene DOID:4195 hyperglycemia ISO RGD:3396 D RGD:9068941 20200609 RGD PMID:15616014|REF_RGD_ID:1625514 12208422 PRKCB protein kinase C beta gene DOID:4195 hyperglycemia ISO RGD:731404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17443133 12208422 PRKCB protein kinase C beta gene DOID:6000 congestive heart failure ISO RGD:3396 D RGD:9068941 20200609 RGD associated with hypertension PMID:12392998|REF_RGD_ID:1625516 12208422 PRKCB protein kinase C beta gene DOID:630 genetic disease ISO RGD:731404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208422 PRKCB protein kinase C beta gene DOID:9000217 Stomach Neoplasms ISO RGD:731404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17003101 12208422 PRKCB protein kinase C beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12208422 PRKCB protein kinase C beta gene DOID:9001984 Fetal Diseases ISO RGD:3396 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression PMID:15496608|REF_RGD_ID:1625524 12208422 PRKCB protein kinase C beta gene DOID:9002165 Diabetic Nephropathies ISO RGD:3396 D RGD:9068941 20200609 RGD associated with hypertension;protein:increased expression:glomerular mesangium PMID:12540629|REF_RGD_ID:729635 12208422 PRKCB protein kinase C beta gene DOID:9002211 Hyperalgesia ISO RGD:3396 D RGD:9068941 20200609 RGD associated with inflammation;protein:increased activity:spinal cord PMID:16360284|REF_RGD_ID:1625519 12208422 PRKCB protein kinase C beta gene DOID:9003936 Cardiomegaly ISO RGD:3396 D RGD:9068941 20200609 RGD PMID:12887134|REF_RGD_ID:1581276 12208422 PRKCB protein kinase C beta gene DOID:9003936 Cardiomegaly ISO RGD:731404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17121852 12208422 PRKCB protein kinase C beta gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3396 D RGD:9068941 20200609 RGD PMID:16900949|REF_RGD_ID:1581275 12208422 PRKCB protein kinase C beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3396 D RGD:9068941 20200609 RGD protein:increased expression:myocardium PMID:17250813|REF_RGD_ID:1625511 12208422 PRKCB protein kinase C beta gene DOID:9007692 Insulin Resistance ISO RGD:3396 D RGD:9068941 20200609 RGD PMID:12665248|REF_RGD_ID:1625515 12208422 PRKCB protein kinase C beta gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3396 D RGD:9068941 20200609 RGD PMID:15878997|REF_RGD_ID:1625520 12208422 PRKCB protein kinase C beta gene DOID:9008443 Colorectal Neoplasms ISO RGD:731404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7705931 12208422 PRKCB protein kinase C beta gene DOID:9352 type 2 diabetes mellitus ISO RGD:731404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15531508 12208422 PRKCB protein kinase C beta gene DOID:9970 obesity ISO RGD:3396 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mononuclear cell PMID:17180352|REF_RGD_ID:1625512 12208442 H2AL3 H2A.L variant histone 3 gene DOID:12849 autistic disorder ISO RGD:14700715 D RGD:8554872 20220531 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12208447 LOC492173 putative MAGE domain-containing protein MAGEA13P gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12208447 LOC492173 putative MAGE domain-containing protein MAGEA13P gene DOID:12849 autistic disorder ISO RGD:1603580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12208447 LOC492173 putative MAGE domain-containing protein MAGEA13P gene DOID:630 genetic disease ISO RGD:1603580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208452 TFDP1 transcription factor Dp-1 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1346598 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 12208452 TFDP1 transcription factor Dp-1 gene DOID:2222 factor X deficiency ISO RGD:1346598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12208452 TFDP1 transcription factor Dp-1 gene DOID:630 genetic disease ISO RGD:1346598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208452 TFDP1 transcription factor Dp-1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1346598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12208466 LCN9 lipocalin 9 gene DOID:0050777 Joubert syndrome ISO RGD:1345733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12208466 LCN9 lipocalin 9 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1345733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12208466 LCN9 lipocalin 9 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1345733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12208466 LCN9 lipocalin 9 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1345733 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12208466 LCN9 lipocalin 9 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1345733 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12208466 LCN9 lipocalin 9 gene DOID:0081097 Rafiq syndrome ISO RGD:1345733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12208466 LCN9 lipocalin 9 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1345733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12208466 LCN9 lipocalin 9 gene DOID:3652 Leigh disease ISO RGD:1345733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12208466 LCN9 lipocalin 9 gene DOID:630 genetic disease ISO RGD:1345733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208466 LCN9 lipocalin 9 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1345733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 12208475 ATP8A1 ATPase phospholipid transporting 8A1 gene DOID:630 genetic disease ISO RGD:1320053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208530 COL26A1 collagen type XXVI alpha 1 chain gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12208530 COL26A1 collagen type XXVI alpha 1 chain gene DOID:630 genetic disease ISO RGD:1345849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208547 OR51T1 olfactory receptor family 51 subfamily T member 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1352520 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12208547 OR51T1 olfactory receptor family 51 subfamily T member 1 gene DOID:630 genetic disease ISO RGD:1352520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208550 GARRE1 granule associated Rac and RHOG effector 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1318189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12208550 GARRE1 granule associated Rac and RHOG effector 1 gene DOID:630 genetic disease ISO RGD:1318189 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208568 LIMS2 LIM zinc finger domain containing 2 gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1313204 D RGD:7240710 20190315 OMIM 12208568 LIMS2 LIM zinc finger domain containing 2 gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1313204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:16199547|PMID:17576681|PMID:25589244|PMID:25741868|PMID:28492532|PMID:9536098 12208568 LIMS2 LIM zinc finger domain containing 2 gene DOID:0111220 centronuclear myopathy 2 ISO RGD:1313204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 12208568 LIMS2 LIM zinc finger domain containing 2 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1313204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 12208568 LIMS2 LIM zinc finger domain containing 2 gene DOID:1227 neutropenia ISO RGD:1313204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 12208568 LIMS2 LIM zinc finger domain containing 2 gene DOID:630 genetic disease ISO RGD:1313204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25589244|PMID:25741868|PMID:28492532 12208594 C18H11orf24 chromosome 18 C11orf24 homolog gene DOID:1059 intellectual disability ISO RGD:1323665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12208594 C18H11orf24 chromosome 18 C11orf24 homolog gene DOID:630 genetic disease ISO RGD:1323665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208594 C18H11orf24 chromosome 18 C11orf24 homolog gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1323665 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12208594 C18H11orf24 chromosome 18 C11orf24 homolog gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1323665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12208615 GPR174 G protein-coupled receptor 174 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12208615 GPR174 G protein-coupled receptor 174 gene DOID:12849 autistic disorder ISO RGD:1345699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12208615 GPR174 G protein-coupled receptor 174 gene DOID:630 genetic disease ISO RGD:1345699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208620 MRM2 mitochondrial rRNA methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1314273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208620 MRM2 mitochondrial rRNA methyltransferase 2 gene DOID:9005661 Mitochondrial DNA Depletion Syndrome 17 ISO RGD:1314273 D RGD:7240710 20190911 OMIM 12208620 MRM2 mitochondrial rRNA methyltransferase 2 gene DOID:9005661 Mitochondrial DNA Depletion Syndrome 17 ISO RGD:1314273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 17 PMID:28973171 12208632 SLCO4C1 solute carrier organic anion transporter family member 4C1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1354473 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12208632 SLCO4C1 solute carrier organic anion transporter family member 4C1 gene DOID:1074 kidney failure ISO RGD:1303048 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:14993604|REF_RGD_ID:1303977 12208632 SLCO4C1 solute carrier organic anion transporter family member 4C1 gene DOID:630 genetic disease ISO RGD:1354473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208632 SLCO4C1 solute carrier organic anion transporter family member 4C1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12208632 SLCO4C1 solute carrier organic anion transporter family member 4C1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354473 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12208650 XRCC3 X-ray repair cross complementing 3 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1315699 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12208650 XRCC3 X-ray repair cross complementing 3 gene DOID:1612 breast cancer ISO RGD:1315699 D RGD:7240710 20230517 OMIM 12208650 XRCC3 X-ray repair cross complementing 3 gene DOID:1612 breast cancer ISO RGD:1315699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to PMID:12023982 12208650 XRCC3 X-ray repair cross complementing 3 gene DOID:1793 pancreatic cancer ISO RGD:1315699 D RGD:9068941 20200609 RGD DNA:SNP:cd:rs861539 (human) PMID:18559563|REF_RGD_ID:2317130 12208650 XRCC3 X-ray repair cross complementing 3 gene DOID:1909 melanoma ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11059748 12208650 XRCC3 X-ray repair cross complementing 3 gene DOID:2394 ovarian cancer ISO RGD:1315699 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 12208650 XRCC3 X-ray repair cross complementing 3 gene DOID:2513 basal cell carcinoma ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16501254 12208650 XRCC3 X-ray repair cross complementing 3 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315699 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 PMID:25741868 12208650 XRCC3 X-ray repair cross complementing 3 gene DOID:630 genetic disease ISO RGD:1315699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12208650 XRCC3 X-ray repair cross complementing 3 gene DOID:6846 familial melanoma ISO RGD:1315699 D RGD:7240710 20230517 OMIM 12208650 XRCC3 X-ray repair cross complementing 3 gene DOID:6846 familial melanoma ISO RGD:1315699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 6 PMID:11059748 12208650 XRCC3 X-ray repair cross complementing 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21347786 12208650 XRCC3 X-ray repair cross complementing 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21347786 12208650 XRCC3 X-ray repair cross complementing 3 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22613844 12208650 XRCC3 X-ray repair cross complementing 3 gene DOID:9003566 Mesothelioma ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16564556 12208650 XRCC3 X-ray repair cross complementing 3 gene DOID:9004464 Skin Neoplasms ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11059748|PMID:16501254 12208650 XRCC3 X-ray repair cross complementing 3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21283680 12208650 XRCC3 X-ray repair cross complementing 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21283680 12208650 XRCC3 X-ray repair cross complementing 3 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22613844 12208650 XRCC3 X-ray repair cross complementing 3 gene DOID:9008914 Lead Poisoning ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23803535 12208650 XRCC3 X-ray repair cross complementing 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12023982 12208669 OTUD3 OTU deubiquitinase 3 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1604042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12208669 OTUD3 OTU deubiquitinase 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604042 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12208669 OTUD3 OTU deubiquitinase 3 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1604042 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12208669 OTUD3 OTU deubiquitinase 3 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1604042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12208669 OTUD3 OTU deubiquitinase 3 gene DOID:630 genetic disease ISO RGD:1604042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208669 OTUD3 OTU deubiquitinase 3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1604042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12208689 TMEM123 transmembrane protein 123 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 12208689 TMEM123 transmembrane protein 123 gene DOID:0080600 COVID-19 ISO RGD:1605596 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12208689 TMEM123 transmembrane protein 123 gene DOID:1059 intellectual disability ISO RGD:1605596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12208689 TMEM123 transmembrane protein 123 gene DOID:12704 ataxia telangiectasia ISO RGD:1605596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12208689 TMEM123 transmembrane protein 123 gene DOID:630 genetic disease ISO RGD:1605596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208773 PSMA1 proteasome 20S subunit alpha 1 gene DOID:1059 intellectual disability ISO RGD:733996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12208773 PSMA1 proteasome 20S subunit alpha 1 gene DOID:630 genetic disease ISO RGD:733996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208788 MAPKAPK2 MAPK activated protein kinase 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12208788 MAPKAPK2 MAPK activated protein kinase 2 gene DOID:12849 autistic disorder ISO RGD:1606829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12208788 MAPKAPK2 MAPK activated protein kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1606829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12208788 MAPKAPK2 MAPK activated protein kinase 2 gene DOID:630 genetic disease ISO RGD:1606829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208788 MAPKAPK2 MAPK activated protein kinase 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606829 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12208788 MAPKAPK2 MAPK activated protein kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12208788 MAPKAPK2 MAPK activated protein kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12208810 REPS2 RALBP1 associated Eps domain containing 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12208810 REPS2 RALBP1 associated Eps domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1347143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12208810 REPS2 RALBP1 associated Eps domain containing 2 gene DOID:630 genetic disease ISO RGD:1347143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208810 REPS2 RALBP1 associated Eps domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12208810 REPS2 RALBP1 associated Eps domain containing 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1347143 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19776672 12208847 PBDC1 polysaccharide biosynthesis domain containing 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12208847 PBDC1 polysaccharide biosynthesis domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1344013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12208847 PBDC1 polysaccharide biosynthesis domain containing 1 gene DOID:630 genetic disease ISO RGD:1344013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208860 SAP30L SAP30 like gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606218 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12208860 SAP30L SAP30 like gene DOID:11612 polycystic ovary syndrome ISO RGD:1606218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12208860 SAP30L SAP30 like gene DOID:630 genetic disease ISO RGD:1606218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208860 SAP30L SAP30 like gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606218 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12208880 ZFP30 ZFP30 zinc finger protein gene DOID:630 genetic disease ISO RGD:1605092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12208880 ZFP30 ZFP30 zinc finger protein gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1605092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 12208957 THRB thyroid hormone receptor beta gene DOID:0060224 atrial fibrillation ISO RGD:734423 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12208957 THRB thyroid hormone receptor beta gene DOID:0111374 selective pituitary thyroid hormone resistance ISO RGD:734423 D RGD:7240710 20180130 OMIM 12208957 THRB thyroid hormone receptor beta gene DOID:0111374 selective pituitary thyroid hormone resistance ISO RGD:734423 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Selective pituitary resistance to thyroid hormone PMID:10022392|PMID:11518118|PMID:1159077|PMID:12554782|PMID:1358935|PMID:1400873|PMID:15802373|PMID:16464943|PMID:16804041|PMID:20237409|PMID:21703645|PMID:21795843|PMID:21871106|PMID:22551329|PMID:24174637|PMID:25040256|PMID:25502991|PMID:25741868|PMID:26041374|PMID:26467025|PMID:28492532|PMID:30148208|PMID:31341516|PMID:32635414|PMID:33353459|PMID:34382419|PMID:7593433|PMID:7838159|PMID:8013151|PMID:8040303|PMID:8200958|PMID:8381821|PMID:8384535|PMID:8496318|PMID:8514853|PMID:8563471|PMID:8674808|PMID:8889584|PMID:8958790|PMID:9086567|PMID:9140079|PMID:9141558 12208957 THRB thyroid hormone receptor beta gene DOID:10283 prostate cancer ISO RGD:734423 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity (human) PMID:18336598|REF_RGD_ID:2315095 12208957 THRB thyroid hormone receptor beta gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:737557 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 12208957 THRB thyroid hormone receptor beta gene DOID:11633 thyroid hormone resistance syndrome ISO RGD:734423 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Generalized resistance to thyroid hormone | ClinVar Annotator: match by term: Thyroid hormone resistance syndrome PMID:1324420|PMID:1400869|PMID:1548332|PMID:20808683|PMID:22947347|PMID:25040256|PMID:25741868|PMID:26273722|PMID:26467025|PMID:28235578|PMID:30430796|PMID:30497070|PMID:8013151|PMID:8828460|PMID:9804773 12208957 THRB thyroid hormone receptor beta gene DOID:11633 thyroid hormone resistance syndrome susceptibility ISO RGD:734423 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.I276L (human) PMID:15913586|REF_RGD_ID:1601659 12208957 THRB thyroid hormone receptor beta gene DOID:1612 breast cancer ISO RGD:3858 D RGD:9068941 20200609 RGD PMID:20082849|REF_RGD_ID:2315977 12208957 THRB thyroid hormone receptor beta gene DOID:1612 breast cancer ISO RGD:734423 D RGD:9068941 20200609 RGD PMID:12082618|REF_RGD_ID:2315096 12208957 THRB thyroid hormone receptor beta gene DOID:3459 breast carcinoma ISO RGD:734423 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity (human) PMID:2573734|REF_RGD_ID:2315100 12208957 THRB thyroid hormone receptor beta gene DOID:3962 thyroid gland follicular carcinoma ISO RGD:734423 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27440272 12208957 THRB thyroid hormone receptor beta gene DOID:3962 thyroid gland follicular carcinoma ISO RGD:737557 D RGD:9068941 20220825 MouseDO OMIM:188470 12208957 THRB thyroid hormone receptor beta gene DOID:4450 renal cell carcinoma ISO RGD:734423 D RGD:9068941 20200609 RGD DNA:mutations (human) PMID:11756220|REF_RGD_ID:2315097 12208957 THRB thyroid hormone receptor beta gene DOID:630 genetic disease ISO RGD:734423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10918302|PMID:1314846|PMID:26467025|PMID:8514853 12208957 THRB thyroid hormone receptor beta gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:734423 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity (human) PMID:11483913|REF_RGD_ID:2315099 12208957 THRB thyroid hormone receptor beta gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:734423 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity (human) PMID:9462708|REF_RGD_ID:2289906 12208957 THRB thyroid hormone receptor beta gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3858 D RGD:9068941 20200609 RGD associated with Myocardial Infarction;protein:decreased expression:heart PMID:17389455|REF_RGD_ID:2314321 12208957 THRB thyroid hormone receptor beta gene DOID:9006576 Generalized Thyroid Hormone Resistance, Autosomal Recessive ISO RGD:734423 D RGD:7240710 20180130 OMIM 12208957 THRB thyroid hormone receptor beta gene DOID:9006576 Generalized Thyroid Hormone Resistance, Autosomal Recessive ISO RGD:734423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal recessive PMID:1653889|PMID:1682340|PMID:1991834|PMID:22319036|PMID:24393243|PMID:25135573|PMID:26467025|PMID:4163616|PMID:8013151 12208957 THRB thyroid hormone receptor beta gene DOID:9007743 Generalized Thyroid Hormone Resistance, Autosomal Dominant ISO RGD:734423 D RGD:7240710 20180130 OMIM 12208957 THRB thyroid hormone receptor beta gene DOID:9007743 Generalized Thyroid Hormone Resistance, Autosomal Dominant ISO RGD:734423 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal dominant PMID:10350052|PMID:10487671|PMID:10852467|PMID:10918302|PMID:11167935|PMID:11518118|PMID:1159077|PMID:11701667|PMID:11704998|PMID:11734632|PMID:12201835|PMID:12356724|PMID:12554782|PMID:1314846|PMID:1324420|PMID:1358935|PMID:1400869|PMID:1400873|PMID:15598685|PMID:1563081|PMID:15771554|PMID:15802373|PMID:15815068|PMID:1587388|PMID:16099238|PMID:1619012|PMID:1653889|PMID:1661299|PMID:1677564|PMID:16804041|PMID:1682340|PMID:17610520|PMID:18363280|PMID:1846005|PMID:18844476|PMID:19268523|PMID:19378427|PMID:19439650|PMID:1973914|PMID:1991834|PMID:20050372|PMID:20237409|PMID:21340159|PMID:2153155|PMID:21622532|PMID:21703645|PMID:21760978|PMID:21795843|PMID:21871106|PMID:22319036|PMID:22551329|PMID:22947347|PMID:23457315|PMID:23633200|PMID:23926384|PMID:24174637|PMID:24393243|PMID:24722129|PMID:25040256|PMID:25063548|PMID:2510172|PMID:25135573|PMID:25502991|PMID:2555064|PMID:25738994|PMID:25741868|PMID:25867808|PMID:25905418|PMID:26041374|PMID:26273722|PMID:26425626|PMID:26467025|PMID:27168936|PMID:27980311|PMID:28235578|PMID:28257829|PMID:28492532|PMID:2879243|PMID:28938413|PMID:29262478|PMID:30148208|PMID:30430796|PMID:30497070|PMID:30672388|PMID:30707410|PMID:30976996|PMID:31341516|PMID:32581500|PMID:32635414|PMID:33353459|PMID:33768782|PMID:34382419|PMID:3571851|PMID:7200565|PMID:7528740|PMID:7593433|PMID:7616549|PMID:7833659|PMID:7838159|PMID:8013151|PMID:8040303|PMID:8175986|PMID:8200958|PMID:8319599|PMID:8381821|PMID:8384535|PMID:8496318|PMID:8514853|PMID:8535442|PMID:8563471|PMID:8664910|PMID:8670802|PMID:8674808|PMID:8786093|PMID:8828460|PMID:8875752|PMID:8889584|PMID:8958790|PMID:9001191|PMID:9086567|PMID:9086569|PMID:9092799|PMID:9100577|PMID:9140079|PMID:9141558|PMID:9315673|PMID:9605924|PMID:9707435|PMID:9804773 12208957 THRB thyroid hormone receptor beta gene DOID:9008731 Craniofacial Abnormalities ISO RGD:734423 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10660344 12208957 THRB thyroid hormone receptor beta gene DOID:9009073 Diaphragmatic Hernia ISO RGD:734423 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11685700 12208987 CTF1 cardiotrophin 1 gene DOID:0050700 cardiomyopathy ISO RGD:1350898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 12208987 CTF1 cardiotrophin 1 gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:736471 D RGD:9068941 20220825 MouseDO 12208987 CTF1 cardiotrophin 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1350898 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11058912|PMID:24033266|PMID:26084686|PMID:28492532 12208987 CTF1 cardiotrophin 1 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1350898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12208987 CTF1 cardiotrophin 1 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1350898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 12208987 CTF1 cardiotrophin 1 gene DOID:10763 hypertension ISO RGD:1350898 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15716706|REF_RGD_ID:1626411 12208987 CTF1 cardiotrophin 1 gene DOID:10763 hypertension ISO RGD:2442 D RGD:9068941 20200917 RGD mRNA:increased expression:cardiac ventricle PMID:8604995|REF_RGD_ID:69823 12208987 CTF1 cardiotrophin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1350898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 12208987 CTF1 cardiotrophin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1350898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11058912|PMID:24033266|PMID:25741868|PMID:27149842|PMID:28492532 12208987 CTF1 cardiotrophin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1350898 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11058912|PMID:24033266|PMID:25741868|PMID:26084686|PMID:27149842|PMID:28492532 12208987 CTF1 cardiotrophin 1 gene DOID:557 kidney disease ISO RGD:1350898 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23335628 12208987 CTF1 cardiotrophin 1 gene DOID:630 genetic disease ISO RGD:1350898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12208987 CTF1 cardiotrophin 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1350898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21803294 12208987 CTF1 cardiotrophin 1 gene DOID:9003936 Cardiomegaly ISO RGD:1350898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18400235|PMID:19100119 12208987 CTF1 cardiotrophin 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1350898 D RGD:9068941 20200917 RGD associated with hypertension;protein:increased expression:plasma PMID:15716706|REF_RGD_ID:1626411 12208987 CTF1 cardiotrophin 1 gene DOID:9005749 Necrosis ISO RGD:1350898 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23335628 12208987 CTF1 cardiotrophin 1 gene DOID:9006024 Hypotension ISO RGD:1350898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11304496 12208987 CTF1 cardiotrophin 1 gene DOID:9007692 Insulin Resistance ISO RGD:1350898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21803294 12208987 CTF1 cardiotrophin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736471 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 12208987 CTF1 cardiotrophin 1 gene DOID:9970 obesity ISO RGD:1350898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21803294 12208994 SRSF12 serine and arginine rich splicing factor 12 gene DOID:630 genetic disease ISO RGD:1606967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209006 IMMT inner membrane mitochondrial protein gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1321729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 12209006 IMMT inner membrane mitochondrial protein gene DOID:630 genetic disease ISO RGD:1321729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209006 IMMT inner membrane mitochondrial protein gene DOID:8398 osteoarthritis ISO RGD:1321729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12209006 IMMT inner membrane mitochondrial protein gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1321729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 12209006 IMMT inner membrane mitochondrial protein gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12209033 AHNAK AHNAK nucleoprotein gene DOID:0080600 COVID-19 ISO RGD:1345625 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 12209033 AHNAK AHNAK nucleoprotein gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1345625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12209033 AHNAK AHNAK nucleoprotein gene DOID:10487 Hirschsprung's disease ISO RGD:1345625 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:28492532 12209033 AHNAK AHNAK nucleoprotein gene DOID:1059 intellectual disability ISO RGD:1345625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12209033 AHNAK AHNAK nucleoprotein gene DOID:11372 megacolon ISO RGD:1345625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12209033 AHNAK AHNAK nucleoprotein gene DOID:417 autoimmune disease ISO RGD:619779 D RGD:9068941 20200609 RGD PMID:11866458|REF_RGD_ID:625427 12209033 AHNAK AHNAK nucleoprotein gene DOID:4450 renal cell carcinoma ISO RGD:1345625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 12209033 AHNAK AHNAK nucleoprotein gene DOID:630 genetic disease ISO RGD:1345625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12209033 AHNAK AHNAK nucleoprotein gene DOID:9001341 Chloracne ISO RGD:1345625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12209033 AHNAK AHNAK nucleoprotein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12209033 AHNAK AHNAK nucleoprotein gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1345625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388789 12209046 SLC66A2 solute carrier family 66 member 2 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1313123 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12209046 SLC66A2 solute carrier family 66 member 2 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1313123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 12209046 SLC66A2 solute carrier family 66 member 2 gene DOID:630 genetic disease ISO RGD:1313123 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209046 SLC66A2 solute carrier family 66 member 2 gene DOID:6420 pulmonary valve stenosis ISO RGD:1313123 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12209046 SLC66A2 solute carrier family 66 member 2 gene DOID:8445 intestinal volvulus ISO RGD:1313123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12209046 SLC66A2 solute carrier family 66 member 2 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1313123 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 12209046 SLC66A2 solute carrier family 66 member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12209046 SLC66A2 solute carrier family 66 member 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1313123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12209054 CARNMT1 carnosine N-methyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:1323541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 12209054 CARNMT1 carnosine N-methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1323541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209069 PDHB pyruvate dehydrogenase E1 subunit beta gene DOID:1826 epilepsy ISO RGD:1343920 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12209069 PDHB pyruvate dehydrogenase E1 subunit beta gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:1343920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12209069 PDHB pyruvate dehydrogenase E1 subunit beta gene DOID:4450 renal cell carcinoma ISO RGD:1343920 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 12209069 PDHB pyruvate dehydrogenase E1 subunit beta gene DOID:630 genetic disease ISO RGD:1343920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12209069 PDHB pyruvate dehydrogenase E1 subunit beta gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1343920 D RGD:7240710 20180130 OMIM 12209069 PDHB pyruvate dehydrogenase E1 subunit beta gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1343920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:15138885|PMID:16199547|PMID:17576681|PMID:18164639|PMID:19924563|PMID:21914562|PMID:25356417|PMID:25741868|PMID:26014431|PMID:26865159|PMID:28492532|PMID:9536098 12209069 PDHB pyruvate dehydrogenase E1 subunit beta gene DOID:9005740 Pyruvate Dehydrogenase Phosphatase Deficiency ISO RGD:1343920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency PMID:25741868|PMID:28492532 12209092 NELL2 neural EGFL like 2 gene DOID:630 genetic disease ISO RGD:732316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209120 MCM4 minichromosome maintenance complex component 4 gene DOID:0111961 immunodeficiency 26 ISO RGD:735578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency PMID:28492532 12209120 MCM4 minichromosome maintenance complex component 4 gene DOID:0111967 immunodeficiency 54 ISO RGD:735578 D RGD:7240710 20180130 OMIM 12209120 MCM4 minichromosome maintenance complex component 4 gene DOID:0111967 immunodeficiency 54 ISO RGD:735578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency PMID:16199547|PMID:16532402|PMID:17576681|PMID:22354167|PMID:22354170|PMID:22499342|PMID:24033266|PMID:25741868|PMID:26633542|PMID:28492532|PMID:9536098 12209120 MCM4 minichromosome maintenance complex component 4 gene DOID:10907 microcephaly ISO RGD:735578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12209120 MCM4 minichromosome maintenance complex component 4 gene DOID:630 genetic disease ISO RGD:735578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12209140 LARP7 La ribonucleoprotein 7, transcriptional regulator gene DOID:1059 intellectual disability ISO RGD:1604813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12209140 LARP7 La ribonucleoprotein 7, transcriptional regulator gene DOID:12271 aniridia ISO RGD:1604813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 12209140 LARP7 La ribonucleoprotein 7, transcriptional regulator gene DOID:630 genetic disease ISO RGD:1604813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12209140 LARP7 La ribonucleoprotein 7, transcriptional regulator gene DOID:9001793 Generalized Epilepsy ISO RGD:1604813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 12209140 LARP7 La ribonucleoprotein 7, transcriptional regulator gene DOID:9004307 Alazami Syndrome ISO RGD:1604813 D RGD:7240710 20180130 OMIM 12209140 LARP7 La ribonucleoprotein 7, transcriptional regulator gene DOID:9004307 Alazami Syndrome ISO RGD:1604813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alazami syndrome PMID:21937992|PMID:22865833|PMID:25741868|PMID:26374271|PMID:26607181|PMID:28492532|PMID:30006060|PMID:31074943|PMID:32860008 12209140 LARP7 La ribonucleoprotein 7, transcriptional regulator gene DOID:9004446 Alazami-Yuan Syndrome ISO RGD:1604813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Alazami-Yuan syndrome PMID:25741868|PMID:26374271|PMID:29619239|PMID:30006060|PMID:30426380|PMID:31074943 12209157 RDX radixin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1348654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29341352 12209157 RDX radixin gene DOID:0110482 autosomal recessive nonsyndromic deafness 24 ISO RGD:1348654 D RGD:7240710 20180130 OMIM 12209157 RDX radixin gene DOID:0110482 autosomal recessive nonsyndromic deafness 24 ISO RGD:1348654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 24 PMID:17226784|PMID:19215054|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27231709|PMID:28492532|PMID:29986705|PMID:30311386|PMID:32747562 12209157 RDX radixin gene DOID:1059 intellectual disability ISO RGD:1348654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12209157 RDX radixin gene DOID:12308 Dubin-Johnson syndrome ISO RGD:1553217 D RGD:9068941 20220825 MouseDO OMIM:237500 12209157 RDX radixin gene DOID:12704 ataxia telangiectasia ISO RGD:1348654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12209157 RDX radixin gene DOID:13580 cholestasis ISO RGD:1348654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17681005 12209157 RDX radixin gene DOID:630 genetic disease ISO RGD:1348654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12209157 RDX radixin gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12209157 RDX radixin gene DOID:9004538 Hearing Loss ISO RGD:1348654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:25741868|PMID:30311386 12209196 SRRT serrate, RNA effector molecule gene DOID:3068 glioblastoma ISO RGD:1604811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30542699 12209196 SRRT serrate, RNA effector molecule gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12209196 SRRT serrate, RNA effector molecule gene DOID:630 genetic disease ISO RGD:1604811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209227 SNX8 sorting nexin 8 gene DOID:0080600 COVID-19 ISO RGD:1314037 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12209227 SNX8 sorting nexin 8 gene DOID:630 genetic disease ISO RGD:1314037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0050471 Carney complex ISO RGD:735732 D RGD:7240710 20180130 OMIM 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0050471 Carney complex ISO RGD:735732 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carney complex | ClinVar Annotator: match by term: Carney complex, type 1 PMID:10973256|PMID:10974026|PMID:11115848|PMID:12213893|PMID:12424709|PMID:12950501|PMID:15371594|PMID:15992699|PMID:16199547|PMID:16569736|PMID:17396442|PMID:17576681|PMID:18056771|PMID:18223213|PMID:18241045|PMID:18445140|PMID:19265501|PMID:19293268|PMID:20358582|PMID:20924687|PMID:21047926|PMID:21651393|PMID:21850686|PMID:21900385|PMID:22112814|PMID:22259056|PMID:22341669|PMID:22464250|PMID:22464252|PMID:22785148|PMID:23043190|PMID:23425300|PMID:23942052|PMID:24033266|PMID:24170103|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26354069|PMID:26405036|PMID:26822237|PMID:27589370|PMID:27825928|PMID:27930734|PMID:28051113|PMID:28255981|PMID:28492532|PMID:28640241|PMID:28804209|PMID:29264456|PMID:32287321|PMID:32443704|PMID:35586626|PMID:9536098 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:735732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15521956 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0050902 medulloblastoma ISO RGD:735732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26822237|PMID:28492532 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0060280 primary pigmented nodular adrenocortical disease ISO RGD:735733 D RGD:9068941 20220825 MouseDO OMIM:610475 | OMIM:610489 | OMIM:614190 | OMIM:615830 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0060318 acute promyelocytic leukemia ISO RGD:735732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17712046 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0080074 neural tube defect ISO RGD:735732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0110066 amelogenesis imperfecta type 1G ISO RGD:735732 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G PMID:21990045|PMID:23434854|PMID:23468644|PMID:24196488|PMID:25741868|PMID:28492532|PMID:32246227 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0110081 arrhythmogenic right ventricular dysplasia 10 ISO RGD:735732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 PMID:25741868 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:14669 acrodysostosis ISO RGD:735732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrodysostosis PMID:25741868|PMID:28492532 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:3962 thyroid gland follicular carcinoma ISO RGD:735733 D RGD:9068941 20220825 MouseDO OMIM:188470 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:4195 hyperglycemia ISO RGD:735732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29367455 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:4367 apparent mineralocorticoid excess syndrome ISO RGD:735732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15521956 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:630 genetic disease ISO RGD:735732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:767 muscular atrophy ISO RGD:735732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29367455 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9001451 Acrodysostosis 1, with or without Hormone Resistance ISO RGD:735732 D RGD:7240710 20180130 OMIM 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9001451 Acrodysostosis 1, with or without Hormone Resistance ISO RGD:735732 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acrodysostosis 1 with or without hormone resistance PMID:11200992|PMID:21651393|PMID:22464250|PMID:22464252|PMID:23043190|PMID:23425300|PMID:25741868|PMID:26405036|PMID:27589370|PMID:28051113|PMID:28492532|PMID:28804209|PMID:29264456|PMID:32443704 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9003253 Myxoma ISO RGD:735732 D RGD:9068941 20200609 RGD PMID:10973256|REF_RGD_ID:1581267 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9005158 Cushing Syndrome ISO RGD:735732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15521956|PMID:29367455 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9005158 Cushing Syndrome ISO RGD:735732 D RGD:9068941 20200609 RGD PMID:12213893|REF_RGD_ID:1581269 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9005209 Usher Syndrome Type 4 ISO RGD:735732 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 4 PMID:28492532|PMID:33300174|PMID:36317447 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9005321 Primary Pigmented Nodular Adrenocortical Disease, 1 ISO RGD:735732 D RGD:7240710 20180130 OMIM 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9005321 Primary Pigmented Nodular Adrenocortical Disease, 1 ISO RGD:735732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 1 PMID:12213893|PMID:17576681|PMID:21651393|PMID:22464250|PMID:23043190|PMID:25741868|PMID:26405036|PMID:27589370|PMID:28492532|PMID:28804209|PMID:9536098 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9005582 Adrenal Cortex Neoplasms ISO RGD:735732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortical tumor, somatic PMID:12203783|PMID:14500362 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735732 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15371594|PMID:17576681|PMID:18241045|PMID:18445140|PMID:20358582|PMID:23942052|PMID:25637381|PMID:25741868|PMID:26822237|PMID:27825928|PMID:27930734|PMID:28051113|PMID:28492532|PMID:29264456|PMID:32287321|PMID:32443704|PMID:9536098 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735732 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15371594|PMID:17576681|PMID:18241045|PMID:18445140|PMID:20358582|PMID:23942052|PMID:25637381|PMID:25741868|PMID:26822237|PMID:27825928|PMID:27930734|PMID:28051113|PMID:28492532|PMID:29264456|PMID:32287321|PMID:32443704|PMID:35586626|PMID:9536098 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9007692 Insulin Resistance ISO RGD:735732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29367455 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9007814 Familial Atrial Myxoma ISO RGD:735732 D RGD:7240710 20180130 OMIM 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9007814 Familial Atrial Myxoma ISO RGD:735732 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial atrial myxoma PMID:10973256|PMID:1263542 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:987 alopecia ISO RGD:735732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29367455 12209244 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9970 obesity ISO RGD:735732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29367455 12209268 GABRR2 gamma-aminobutyric acid type A receptor subunit rho2 gene DOID:10003 sensorineural hearing loss ISO RGD:733076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 12209268 GABRR2 gamma-aminobutyric acid type A receptor subunit rho2 gene DOID:12849 autistic disorder ISO RGD:733076 D RGD:9068941 20200609 RGD DNA:SNP: : PMID:16080114|REF_RGD_ID:6480256 12209268 GABRR2 gamma-aminobutyric acid type A receptor subunit rho2 gene DOID:3602 toxic encephalopathy ISO RGD:733076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12209268 GABRR2 gamma-aminobutyric acid type A receptor subunit rho2 gene DOID:409 liver disease ISO RGD:733076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12209268 GABRR2 gamma-aminobutyric acid type A receptor subunit rho2 gene DOID:630 genetic disease ISO RGD:733076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209281 TNPO3 transportin 3 gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1318997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:28492532 12209281 TNPO3 transportin 3 gene DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 ISO RGD:1318997 D RGD:7240710 20180130 OMIM 12209281 TNPO3 transportin 3 gene DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 ISO RGD:1318997 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F PMID:11222786|PMID:16199547|PMID:17576681|PMID:23543484|PMID:23667635|PMID:25741868|PMID:28492532|PMID:30567601|PMID:31071488|PMID:31217819|PMID:31674007|PMID:31953240|PMID:9536098 12209281 TNPO3 transportin 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12209281 TNPO3 transportin 3 gene DOID:630 genetic disease ISO RGD:1318997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12209312 CCT8L2 chaperonin containing TCP1 subunit 8 like 2 gene DOID:630 genetic disease ISO RGD:1605278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209312 CCT8L2 chaperonin containing TCP1 subunit 8 like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12209317 ACP7 acid phosphatase 7, tartrate resistant (putative) gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1604436 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12209317 ACP7 acid phosphatase 7, tartrate resistant (putative) gene DOID:630 genetic disease ISO RGD:1604436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209317 ACP7 acid phosphatase 7, tartrate resistant (putative) gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604436 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12209339 ABHD8 abhydrolase domain containing 8 gene DOID:630 genetic disease ISO RGD:1313870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209354 CLEC4G C-type lectin domain family 4 member G gene DOID:0080490 mucolipidosis type IV ISO RGD:1354383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12209354 CLEC4G C-type lectin domain family 4 member G gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1354383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 12209354 CLEC4G C-type lectin domain family 4 member G gene DOID:630 genetic disease ISO RGD:1354383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209354 CLEC4G C-type lectin domain family 4 member G gene DOID:684 hepatocellular carcinoma ISO RGD:1354383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12209372 TM4SF1 transmembrane 4 L six family member 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:1320105 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12209372 TM4SF1 transmembrane 4 L six family member 1 gene DOID:630 genetic disease ISO RGD:1320105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209382 VWC2L von Willebrand factor C domain containing 2 like gene DOID:630 genetic disease ISO RGD:2859445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209382 VWC2L von Willebrand factor C domain containing 2 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2859445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12209390 CD48 CD48 molecule gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1352782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12209390 CD48 CD48 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1352782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12209390 CD48 CD48 molecule gene DOID:630 genetic disease ISO RGD:1352782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209390 CD48 CD48 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12209390 CD48 CD48 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12209398 RBP3 retinol binding protein 3 gene DOID:0050572 cone-rod dystrophy ISO RGD:735986 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 12209398 RBP3 retinol binding protein 3 gene DOID:0110393 retinitis pigmentosa 66 ISO RGD:735986 D RGD:7240710 20180130 OMIM 12209398 RBP3 retinol binding protein 3 gene DOID:0110393 retinitis pigmentosa 66 ISO RGD:735986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 66 PMID:19074801|PMID:21067480|PMID:23105016|PMID:23486466|PMID:24963161|PMID:25741868|PMID:25766589|PMID:27829784|PMID:28492532|PMID:9614228 12209398 RBP3 retinol binding protein 3 gene DOID:10584 retinitis pigmentosa ISO RGD:735986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:19074801|PMID:21067480|PMID:23105016|PMID:24963161|PMID:25741868|PMID:27829784|PMID:28492532|PMID:28512305 12209398 RBP3 retinol binding protein 3 gene DOID:10584 retinitis pigmentosa ISO RGD:735986 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:19074801|PMID:21067480|PMID:23105016|PMID:24963161|PMID:25741868|PMID:27829784|PMID:28492532 12209398 RBP3 retinol binding protein 3 gene DOID:13141 uveitis ISO RGD:735986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21850155 12209398 RBP3 retinol binding protein 3 gene DOID:417 autoimmune disease ISO RGD:735986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20007828|PMID:21850155 12209398 RBP3 retinol binding protein 3 gene DOID:5419 schizophrenia ISO RGD:735986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12209398 RBP3 retinol binding protein 3 gene DOID:630 genetic disease ISO RGD:735986 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12209398 RBP3 retinol binding protein 3 gene DOID:8501 fundus dystrophy ISO RGD:735986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:23105016|PMID:25766589|PMID:26872967|PMID:28492532|PMID:9614228 12209405 BEGAIN brain enriched guanylate kinase associated gene DOID:0080600 COVID-19 ISO RGD:731845 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12209405 BEGAIN brain enriched guanylate kinase associated gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:731845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 12209405 BEGAIN brain enriched guanylate kinase associated gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:731845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12209405 BEGAIN brain enriched guanylate kinase associated gene DOID:630 genetic disease ISO RGD:731845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209405 BEGAIN brain enriched guanylate kinase associated gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:731845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12209433 NHS NHS actin remodeling regulator gene DOID:0060599 Nance-Horan syndrome ISO RGD:1352036 D RGD:7240710 20180130 OMIM 12209433 NHS NHS actin remodeling regulator gene DOID:0060599 Nance-Horan syndrome ISO RGD:1352036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:14564667|PMID:15466011|PMID:15623749|PMID:16199547|PMID:16736028|PMID:17256798|PMID:17304053|PMID:17576681|PMID:18018428|PMID:18076117|PMID:18949062|PMID:19414485|PMID:20882036|PMID:2246772|PMID:23265383|PMID:23757202|PMID:24968223|PMID:25266737|PMID:25315662|PMID:25741868|PMID:26633542|PMID:27148795|PMID:27159028|PMID:28492532|PMID:28557584|PMID:29611406|PMID:30642278|PMID:30945684|PMID:458526|PMID:9536098 12209433 NHS NHS actin remodeling regulator gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12209433 NHS NHS actin remodeling regulator gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1352036 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:19780792|PMID:21770923|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684 12209433 NHS NHS actin remodeling regulator gene DOID:0110272 cataract 40 ISO RGD:1352036 D RGD:7240710 20180130 OMIM 12209433 NHS NHS actin remodeling regulator gene DOID:0110272 cataract 40 ISO RGD:1352036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 40 PMID:19414485|PMID:23757202|PMID:25741868|PMID:28492532 12209433 NHS NHS actin remodeling regulator gene DOID:0111042 glycogen storage disease IXa ISO RGD:1352036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12209433 NHS NHS actin remodeling regulator gene DOID:10283 prostate cancer ISO RGD:1352036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 12209433 NHS NHS actin remodeling regulator gene DOID:1059 intellectual disability ISO RGD:1352036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12209433 NHS NHS actin remodeling regulator gene DOID:12849 autistic disorder ISO RGD:1352036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12209433 NHS NHS actin remodeling regulator gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1352036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12209433 NHS NHS actin remodeling regulator gene DOID:630 genetic disease ISO RGD:1352036 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14564667|PMID:19414485|PMID:23265383|PMID:23757202|PMID:25741868|PMID:28492532 12209433 NHS NHS actin remodeling regulator gene DOID:83 cataract ISO RGD:1352036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:26694549 12209433 NHS NHS actin remodeling regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12209450 SLITRK2 SLIT and NTRK like family member 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12209450 SLITRK2 SLIT and NTRK like family member 2 gene DOID:1059 intellectual disability ISO RGD:1344547 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual disability 12209450 SLITRK2 SLIT and NTRK like family member 2 gene DOID:12849 autistic disorder ISO RGD:1344547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12209450 SLITRK2 SLIT and NTRK like family member 2 gene DOID:630 genetic disease ISO RGD:1344547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209450 SLITRK2 SLIT and NTRK like family member 2 gene DOID:9007793 X-Linked Intellectual Developmental Disorder 111 ISO RGD:1344547 D RGD:7240710 20230505 OMIM 12209459 GCSAML germinal center associated signaling and motility like gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1605281 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12209459 GCSAML germinal center associated signaling and motility like gene DOID:1540 parathyroid carcinoma ISO RGD:1605281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12209459 GCSAML germinal center associated signaling and motility like gene DOID:630 genetic disease ISO RGD:1605281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209459 GCSAML germinal center associated signaling and motility like gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1605281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 12209459 GCSAML germinal center associated signaling and motility like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12209469 SCIMP SLP adaptor and CSK interacting membrane protein gene DOID:0080600 COVID-19 ISO RGD:1604451 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12209469 SCIMP SLP adaptor and CSK interacting membrane protein gene DOID:11934 head and neck cancer ISO RGD:1604451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Head and neck cancer PMID:32266149 12209469 SCIMP SLP adaptor and CSK interacting membrane protein gene DOID:630 genetic disease ISO RGD:1604451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209481 C25H8orf58 chromosome 25 C8orf58 homolog gene DOID:630 genetic disease ISO RGD:1604880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209481 C25H8orf58 chromosome 25 C8orf58 homolog gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1604880 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12209498 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:0060041 autism spectrum disorder ISO RGD:1351578 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12209498 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:0080952 AMED syndrome ISO RGD:1351578 D RGD:7240710 20210210 OMIM 12209498 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:0080952 AMED syndrome ISO RGD:1351578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AMED syndrome, digenic PMID:25741868|PMID:33355142 12209498 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:13580 cholestasis ISO RGD:2292706 D RGD:9068941 20220922 RGD mRNA, protein:decreased expression:liver PMID:19806079|REF_RGD_ID:5129088 12209498 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:1574 alcohol use disorder ISO RGD:2292706 D RGD:9068941 20220922 RGD PMID:8462548|REF_RGD_ID:5129091 12209498 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:2841 asthma ISO RGD:1351578 D RGD:9068941 20200609 RGD PMID:19514054|REF_RGD_ID:5128890 12209498 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:2841 asthma ISO RGD:1351578 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:19395503|REF_RGD_ID:5128891 12209498 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:2841 asthma ISO RGD:1615209 D RGD:9068941 20200609 RGD PMID:15919956|REF_RGD_ID:5128892 12209498 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:2841 asthma susceptibility ISO RGD:1351578 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1154404, rs28730619 (human) PMID:17543375|REF_RGD_ID:5128882 12209498 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:630 genetic disease ISO RGD:1351578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209498 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:6432 pulmonary hypertension ISO RGD:1615209 D RGD:9068941 20200609 RGD PMID:20431245|REF_RGD_ID:5128886 12209509 GPT glutamic--pyruvic transaminase gene DOID:0050654 Baller-Gerold syndrome ISO RGD:734191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:28492532 12209509 GPT glutamic--pyruvic transaminase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:734191 D RGD:9068941 20200609 RGD protein:increased activity:plasma PMID:22922605|REF_RGD_ID:14975251 12209509 GPT glutamic--pyruvic transaminase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:734191 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 12209509 GPT glutamic--pyruvic transaminase gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:734191 D RGD:9068941 20200609 RGD PMID:24768200|REF_RGD_ID:14975160 12209509 GPT glutamic--pyruvic transaminase gene DOID:0080546 non-alcoholic fatty liver ISO RGD:734192 D RGD:9068941 20200609 RGD protein:increased expression:liver,serum PMID:18710424|REF_RGD_ID:14975250 12209509 GPT glutamic--pyruvic transaminase gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:734191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 12209509 GPT glutamic--pyruvic transaminase gene DOID:0111670 primary hyperoxaluria type 1 treatment ISO RGD:734192 D RGD:9068941 20200609 RGD PMID:27239044|REF_RGD_ID:13782155 12209509 GPT glutamic--pyruvic transaminase gene DOID:3571 liver cancer treatment ISO RGD:734191 D RGD:9068941 20200609 RGD PMID:22922605|REF_RGD_ID:14975251 12209509 GPT glutamic--pyruvic transaminase gene DOID:409 liver disease ISO RGD:734191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25455894 12209509 GPT glutamic--pyruvic transaminase gene DOID:4621 holoprosencephaly ISO RGD:734191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12209509 GPT glutamic--pyruvic transaminase gene DOID:5082 liver cirrhosis severity ISO RGD:734191 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic; PMID:30665287|REF_RGD_ID:14975252 12209509 GPT glutamic--pyruvic transaminase gene DOID:630 genetic disease ISO RGD:734191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209509 GPT glutamic--pyruvic transaminase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 12209509 GPT glutamic--pyruvic transaminase gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:621720 D RGD:9068941 20200609 RGD PMID:22706148|REF_RGD_ID:8552768 12209509 GPT glutamic--pyruvic transaminase gene DOID:9003018 Halothane Hepatitis treatment ISO RGD:621720 D RGD:9068941 20200609 RGD PMID:28921207|REF_RGD_ID:14975164 12209509 GPT glutamic--pyruvic transaminase gene DOID:9004009 Reperfusion Injury ISO RGD:734191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8215636 12209509 GPT glutamic--pyruvic transaminase gene DOID:9004017 Chronic Hepatitis C ISO RGD:734191 D RGD:9068941 20200609 RGD protein:increased activity:plasma PMID:22922605|REF_RGD_ID:14975251 12209509 GPT glutamic--pyruvic transaminase gene DOID:9004484 Sepsis treatment ISO RGD:621720 D RGD:9068941 20200609 RGD PMID:26814114|REF_RGD_ID:14975161 12209509 GPT glutamic--pyruvic transaminase gene DOID:9004590 Acute Liver Failure ISO RGD:734191 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:28513770|REF_RGD_ID:14975169 12209509 GPT glutamic--pyruvic transaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:621720 D RGD:9068941 20200609 RGD protein:increased expression, activity:serum: PMID:19085960|REF_RGD_ID:14975249 12209509 GPT glutamic--pyruvic transaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:145039|PMID:19481104 12209509 GPT glutamic--pyruvic transaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734192 D RGD:9068941 20200609 RGD protein:increased expression, activity:serum: PMID:19085960|REF_RGD_ID:14975249 12209509 GPT glutamic--pyruvic transaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:621720 D RGD:9068941 20200609 RGD PMID:21772750|PMID:27293452|REF_RGD_ID:14975166|REF_RGD_ID:14975168 12209509 GPT glutamic--pyruvic transaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:734192 D RGD:9068941 20200609 RGD PMID:28487901|REF_RGD_ID:14975162 12209509 GPT glutamic--pyruvic transaminase gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:734191 D RGD:9068941 20200609 RGD PMID:28007350|REF_RGD_ID:14975240 12209509 GPT glutamic--pyruvic transaminase gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:734191 D RGD:9068941 20200609 RGD PMID:29279233|REF_RGD_ID:14975159 12209509 GPT glutamic--pyruvic transaminase gene DOID:9352 type 2 diabetes mellitus ISO RGD:621720 D RGD:9068941 20200609 RGD protein:increased expression, activity:liver: PMID:25865565|REF_RGD_ID:11342811 12209509 GPT glutamic--pyruvic transaminase gene DOID:9452 fatty liver disease ISO RGD:734191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19481104 12209509 GPT glutamic--pyruvic transaminase gene DOID:9452 fatty liver disease ISO RGD:734191 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:30185098|REF_RGD_ID:14975167 12209522 CEP295 centrosomal protein 295 gene DOID:0050778 Meckel syndrome ISO RGD:1602084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 12209522 CEP295 centrosomal protein 295 gene DOID:1059 intellectual disability ISO RGD:1602084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12209522 CEP295 centrosomal protein 295 gene DOID:630 genetic disease ISO RGD:1602084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209567 TSHZ1 teashirt zinc finger homeobox 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1323269 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12209567 TSHZ1 teashirt zinc finger homeobox 1 gene DOID:1059 intellectual disability ISO RGD:1323269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 12209567 TSHZ1 teashirt zinc finger homeobox 1 gene DOID:630 genetic disease ISO RGD:1323269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209567 TSHZ1 teashirt zinc finger homeobox 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1323269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12209567 TSHZ1 teashirt zinc finger homeobox 1 gene DOID:8445 intestinal volvulus ISO RGD:1323269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12209567 TSHZ1 teashirt zinc finger homeobox 1 gene DOID:9004309 Congenital Aural Atresia ISO RGD:1323269 D RGD:7240710 20180130 OMIM 12209567 TSHZ1 teashirt zinc finger homeobox 1 gene DOID:9004309 Congenital Aural Atresia ISO RGD:1323269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aural atresia, congenital PMID:22152683|PMID:24487590|PMID:25741868 12209567 TSHZ1 teashirt zinc finger homeobox 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12209567 TSHZ1 teashirt zinc finger homeobox 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1323269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12209567 TSHZ1 teashirt zinc finger homeobox 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1323269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12209583 LOC102154491 natural cytotoxicity triggering receptor 3 ligand 1-like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12209590 MAP10 microtubule associated protein 10 gene DOID:1540 parathyroid carcinoma ISO RGD:1607026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12209590 MAP10 microtubule associated protein 10 gene DOID:630 genetic disease ISO RGD:1607026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209590 MAP10 microtubule associated protein 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12209662 YBX3 Y-box binding protein 3 gene DOID:630 genetic disease ISO RGD:733766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209662 YBX3 Y-box binding protein 3 gene DOID:9008091 Optic Nerve Injuries ISO RGD:621056 D RGD:9068941 20200609 RGD mRNA:increased expression:retinal ganglion cell PMID:11750989|REF_RGD_ID:2311250 12209673 NUP107 nucleoporin 107 gene DOID:0080385 nephrotic syndrome type 11 ISO RGD:732596 D RGD:7240710 20190315 OMIM 12209673 NUP107 nucleoporin 107 gene DOID:0080385 nephrotic syndrome type 11 ISO RGD:732596 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 11 PMID:25741868|PMID:26411495|PMID:28492532|PMID:30179222 12209673 NUP107 nucleoporin 107 gene DOID:0080498 ovarian dysgenesis 6 ISO RGD:732596 D RGD:7240710 20190315 OMIM 12209673 NUP107 nucleoporin 107 gene DOID:0080498 ovarian dysgenesis 6 ISO RGD:732596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 6 PMID:26485283 12209673 NUP107 nucleoporin 107 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:732596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 12209673 NUP107 nucleoporin 107 gene DOID:5426 primary ovarian insufficiency ISO RGD:732596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12209673 NUP107 nucleoporin 107 gene DOID:630 genetic disease ISO RGD:732596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12209673 NUP107 nucleoporin 107 gene DOID:9001199 Galloway-Mowat Syndrome 7 ISO RGD:732596 D RGD:7240710 20190315 OMIM 12209673 NUP107 nucleoporin 107 gene DOID:9001199 Galloway-Mowat Syndrome 7 ISO RGD:732596 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 PMID:25558065|PMID:25741868|PMID:28117080|PMID:28280135|PMID:28492532|PMID:30179222 12209673 NUP107 nucleoporin 107 gene DOID:9008086 Developmental Disabilities ISO RGD:732596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:25741868|PMID:28117080|PMID:28280135|PMID:30179222 12209713 NSG1 neuronal vesicle trafficking associated 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:737576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12209720 ERAL1 Era like 12S mitochondrial rRNA chaperone 1 gene DOID:0050857 Perrault syndrome ISO RGD:1312320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:28449065 12209720 ERAL1 Era like 12S mitochondrial rRNA chaperone 1 gene DOID:0080256 Perrault syndrome 6 ISO RGD:1312320 D RGD:7240710 20190315 OMIM 12209720 ERAL1 Era like 12S mitochondrial rRNA chaperone 1 gene DOID:0080256 Perrault syndrome 6 ISO RGD:1312320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perrault syndrome 6 PMID:25741868|PMID:28449065 12209720 ERAL1 Era like 12S mitochondrial rRNA chaperone 1 gene DOID:0080600 COVID-19 ISO RGD:1312320 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12209720 ERAL1 Era like 12S mitochondrial rRNA chaperone 1 gene DOID:630 genetic disease ISO RGD:1312320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209720 ERAL1 Era like 12S mitochondrial rRNA chaperone 1 gene DOID:9004538 Hearing Loss ISO RGD:1312320 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hearing impairment 12209734 SKIDA1 SKI/DACH domain containing 1 gene DOID:630 genetic disease ISO RGD:1606383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209741 MUC4 mucin 4, cell surface associated gene DOID:0050625 biliary tract benign neoplasm ISO RGD:735893 D RGD:9068941 20200609 RGD protein:increased expression:bile,biliary tract PMID:18475301|REF_RGD_ID:2324916 12209741 MUC4 mucin 4, cell surface associated gene DOID:0080178 mucositis ISO RGD:621331 D RGD:9068941 20200609 RGD protein:decreased expression:intestine PMID:18998135|REF_RGD_ID:2303603 12209741 MUC4 mucin 4, cell surface associated gene DOID:0080599 Coronavirus infectious disease ISO RGD:735894 D RGD:9068941 20220825 MouseDO 12209741 MUC4 mucin 4, cell surface associated gene DOID:10754 otitis media ISO RGD:621331 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections;mRNA:increased expression:middle ear PMID:11576628|REF_RGD_ID:2303743 12209741 MUC4 mucin 4, cell surface associated gene DOID:10754 otitis media ISO RGD:735893 D RGD:9068941 20200609 RGD mRNA:increased expression:middle ear PMID:14690056|REF_RGD_ID:7349395 12209741 MUC4 mucin 4, cell surface associated gene DOID:11204 allergic conjunctivitis ISO RGD:735894 D RGD:9068941 20200609 RGD PMID:11581187|REF_RGD_ID:7349400 12209741 MUC4 mucin 4, cell surface associated gene DOID:11204 allergic conjunctivitis severity ISO RGD:735893 D RGD:9068941 20200609 RGD PMID:17177679|REF_RGD_ID:7349351 12209741 MUC4 mucin 4, cell surface associated gene DOID:11382 corneal neovascularization ISO RGD:621331 D RGD:9068941 20200609 RGD PMID:17169838|REF_RGD_ID:7349391 12209741 MUC4 mucin 4, cell surface associated gene DOID:12895 keratoconjunctivitis sicca ISO RGD:731951 D RGD:9068941 20200609 RGD PMID:14507865|REF_RGD_ID:7349377 12209741 MUC4 mucin 4, cell surface associated gene DOID:1324 lung cancer ISO RGD:735893 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12209741 MUC4 mucin 4, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:735893 D RGD:9068941 20200609 RGD PMID:17595659|REF_RGD_ID:2324922 12209741 MUC4 mucin 4, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:735893 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:11751498|REF_RGD_ID:2324891 12209741 MUC4 mucin 4, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:735893 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell PMID:16274046|REF_RGD_ID:2324931 12209741 MUC4 mucin 4, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:735893 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:20303649|REF_RGD_ID:2324914 12209741 MUC4 mucin 4, cell surface associated gene DOID:1793 pancreatic cancer disease_progression ISO RGD:735893 D RGD:9068941 20200609 RGD PMID:17406026|REF_RGD_ID:2324923 12209741 MUC4 mucin 4, cell surface associated gene DOID:3030 mucinous adenocarcinoma severity ISO RGD:735893 D RGD:9068941 20200609 RGD associated with pancreatic disease;protein:increased expression:pancreas PMID:17079945|REF_RGD_ID:2324927 12209741 MUC4 mucin 4, cell surface associated gene DOID:3587 pancreatic ductal carcinoma ISO RGD:735893 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:12657964|REF_RGD_ID:2324946 12209741 MUC4 mucin 4, cell surface associated gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:735893 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:16049287|REF_RGD_ID:2324942 12209741 MUC4 mucin 4, cell surface associated gene DOID:3905 lung carcinoma ISO RGD:735893 D RGD:9068941 20200609 RGD protein:altered expression:lung PMID:11596032|REF_RGD_ID:5131258 12209741 MUC4 mucin 4, cell surface associated gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:735893 D RGD:9068941 20200609 RGD protein:increased expression:trachea PMID:17126950|REF_RGD_ID:5131208 12209741 MUC4 mucin 4, cell surface associated gene DOID:4450 renal cell carcinoma ISO RGD:735893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 12209741 MUC4 mucin 4, cell surface associated gene DOID:4608 common bile duct neoplasm ISO RGD:735893 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:8143972|REF_RGD_ID:2324890 12209741 MUC4 mucin 4, cell surface associated gene DOID:4947 cholangiocarcinoma ISO RGD:621331 D RGD:9068941 20200609 RGD PMID:19082442|REF_RGD_ID:2303602 12209741 MUC4 mucin 4, cell surface associated gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:735893 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:14752841|REF_RGD_ID:2324944 12209741 MUC4 mucin 4, cell surface associated gene DOID:5409 lung small cell carcinoma ISO RGD:735893 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 12209741 MUC4 mucin 4, cell surface associated gene DOID:684 hepatocellular carcinoma ISO RGD:735893 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 12209741 MUC4 mucin 4, cell surface associated gene DOID:9000011 Gallbladder Neoplasms ISO RGD:735893 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:gallbladder PMID:18397823|REF_RGD_ID:2324921 12209741 MUC4 mucin 4, cell surface associated gene DOID:9000965 Neoplasm Metastasis ISO RGD:621331 D RGD:9068941 20200609 RGD associated with Melanoma PMID:10918186|REF_RGD_ID:2303746 12209741 MUC4 mucin 4, cell surface associated gene DOID:9002159 Liver Reperfusion Injury ISO RGD:621331 D RGD:9068941 20200609 RGD mRNA:decreased expression:bile duct PMID:21775928|REF_RGD_ID:7364757 12209741 MUC4 mucin 4, cell surface associated gene DOID:9002231 Fetal Growth Retardation ISO RGD:621331 D RGD:9068941 20200609 RGD PMID:19287349|REF_RGD_ID:7349369 12209741 MUC4 mucin 4, cell surface associated gene DOID:9002304 Prostatic Neoplasms ISO RGD:735893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12209741 MUC4 mucin 4, cell surface associated gene DOID:9002936 Bile Duct Neoplasms disease_progression ISO RGD:735893 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:16857800|REF_RGD_ID:2324929 12209741 MUC4 mucin 4, cell surface associated gene DOID:9002992 Nematode Infections ISO RGD:621331 D RGD:9068941 20200609 RGD mRNA:increased expression:intestine PMID:16689826|REF_RGD_ID:2303607 12209741 MUC4 mucin 4, cell surface associated gene DOID:9002992 Nematode Infections ISO RGD:735894 D RGD:9068941 20200609 RGD protein:increased expression:cecum, glycocalyx PMID:21155842|REF_RGD_ID:7364766 12209741 MUC4 mucin 4, cell surface associated gene DOID:9003281 Spontaneous Abortions ISO RGD:735893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12209741 MUC4 mucin 4, cell surface associated gene DOID:9004283 Transplant Rejection ISO RGD:621331 D RGD:9068941 20200609 RGD PMID:12717211|REF_RGD_ID:7349372 12209768 PDCD10 programmed cell death 10 gene DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies ISO RGD:1351056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies PMID:28492532 12209768 PDCD10 programmed cell death 10 gene DOID:0060669 cerebral cavernous malformation ISO RGD:1351056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation PMID:15543491|PMID:18035376|PMID:18300272|PMID:23485406|PMID:23595507|PMID:23801932|PMID:25741868|PMID:26896283|PMID:28492532 12209768 PDCD10 programmed cell death 10 gene DOID:0060671 cerebral cavernous malformation 3 ISO RGD:1351056 D RGD:7240710 20180130 OMIM 12209768 PDCD10 programmed cell death 10 gene DOID:0060671 cerebral cavernous malformation 3 ISO RGD:1351056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 3 PMID:15543491|PMID:16199547|PMID:16329096|PMID:17576681|PMID:18035376|PMID:18060436|PMID:18300272|PMID:23485406|PMID:23595507|PMID:23801932|PMID:24466005|PMID:24689081|PMID:25122144|PMID:25354366|PMID:25741868|PMID:26246098|PMID:26896283|PMID:28492532|PMID:30161288|PMID:9536098 12209768 PDCD10 programmed cell death 10 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1351056 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:16329096|PMID:17576681|PMID:24466005|PMID:25122144|PMID:25741868|PMID:28492532|PMID:9536098 12209768 PDCD10 programmed cell death 10 gene DOID:0080491 cerebral cavernous malformation 1 ISO RGD:1351056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 1 PMID:25741868 12209768 PDCD10 programmed cell death 10 gene DOID:630 genetic disease ISO RGD:1351056 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24689081|PMID:28492532 12209780 LRIT2 leucine rich repeat, Ig-like and transmembrane domains 2 gene DOID:630 genetic disease ISO RGD:1352534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209785 EIF4E1B eukaryotic translation initiation factor 4E family member 1B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1601810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12209785 EIF4E1B eukaryotic translation initiation factor 4E family member 1B gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1601810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12209785 EIF4E1B eukaryotic translation initiation factor 4E family member 1B gene DOID:0112103 Sotos syndrome 1 ISO RGD:1601810 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12209785 EIF4E1B eukaryotic translation initiation factor 4E family member 1B gene DOID:630 genetic disease ISO RGD:1601810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209785 EIF4E1B eukaryotic translation initiation factor 4E family member 1B gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1601810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12209785 EIF4E1B eukaryotic translation initiation factor 4E family member 1B gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1601810 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 12209796 SLC16A11 solute carrier family 16 member 11 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1322416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12209796 SLC16A11 solute carrier family 16 member 11 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1322416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 12209796 SLC16A11 solute carrier family 16 member 11 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1322416 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12209796 SLC16A11 solute carrier family 16 member 11 gene DOID:12177 common variable immunodeficiency ISO RGD:1322416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12209796 SLC16A11 solute carrier family 16 member 11 gene DOID:2729 dyskeratosis congenita ISO RGD:1322416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12209796 SLC16A11 solute carrier family 16 member 11 gene DOID:630 genetic disease ISO RGD:1322416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209817 OTOF otoferlin gene DOID:0050563 nonsyndromic deafness ISO RGD:1344284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:10903124|PMID:12114484|PMID:12127154|PMID:12525542|PMID:14635104|PMID:16226319|PMID:16371502|PMID:17036997|PMID:18381613|PMID:19250381|PMID:19461658|PMID:20146813|PMID:20224275|PMID:20301429|PMID:21117948|PMID:21557232|PMID:22575033|PMID:22906306|PMID:24033266|PMID:24053799|PMID:24746455|PMID:24814232|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26445815|PMID:26467025|PMID:26969326|PMID:27082237|PMID:27177047|PMID:27621663|PMID:27652356|PMID:27729456|PMID:28492532|PMID:28766844|PMID:29196752|PMID:29484972|PMID:30303587|PMID:30311386|PMID:30368385|PMID:31095577|PMID:31589614|PMID:31827501|PMID:31980526|PMID:32906206|PMID:33256196|PMID:33426078|PMID:34536124|PMID:34652575 12209817 OTOF otoferlin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1344284 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:12525542|PMID:14635104|PMID:19250381|PMID:20301429|PMID:24033266|PMID:25741868|PMID:26632695|PMID:27082237|PMID:28492532|PMID:30303587 12209817 OTOF otoferlin gene DOID:0060744 Pendred syndrome ISO RGD:1344284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:30311386 12209817 OTOF otoferlin gene DOID:0080600 COVID-19 ISO RGD:1344284 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12209817 OTOF otoferlin gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1344284 D RGD:7240710 20180130 OMIM 12209817 OTOF otoferlin gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1344284 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Auditory neuropathy, autosomal recessive, 1 | ClinVar Annotator: match by term: Deafness, autosomal recessive 9 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 PMID:10192385|PMID:10878664|PMID:10903124|PMID:11483641|PMID:12114484|PMID:12127154|PMID:12525542|PMID:14635104|PMID:16097006|PMID:16226319|PMID:16283880|PMID:16371502|PMID:17036997|PMID:17512949|PMID:17576681|PMID:18381613|PMID:18804553|PMID:19250381|PMID:19461658|PMID:19636622|PMID:20146813|PMID:20211493|PMID:20224275|PMID:20230791|PMID:20301429|PMID:20504331|PMID:21117948|PMID:21216247|PMID:21557232|PMID:21935370|PMID:22575033|PMID:22607986|PMID:22906306|PMID:23208854|PMID:23562982|PMID:24033266|PMID:24053799|PMID:24746455|PMID:24814232|PMID:25262649|PMID:25326637|PMID:25525159|PMID:25741868|PMID:25991456|PMID:26186295|PMID:26434960|PMID:26445815|PMID:26467025|PMID:26632695|PMID:26763877|PMID:26818607|PMID:26969326|PMID:27018795|PMID:27068579|PMID:27082237|PMID:27177047|PMID:27621663|PMID:27652356|PMID:27657688|PMID:27729456|PMID:27766948|PMID:27821677|PMID:28492532|PMID:28766844|PMID:29048421|PMID:29362361|PMID:29484972|PMID:29752989|PMID:30096381|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30368385|PMID:31095577|PMID:31589614|PMID:31827501|PMID:31980526|PMID:32747562|PMID:32906206|PMID:33095980|PMID:33256196|PMID:34113375|PMID:34536124|PMID:34599368|PMID:34652575|PMID:8789454|PMID:9536098|PMID:9657592 12209817 OTOF otoferlin gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1344284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Auditory neuropathy, autosomal recessive, 1 | ClinVar Annotator: match by term: Deafness, autosomal recessive 9 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 PMID:10192385|PMID:10878664|PMID:10903124|PMID:11483641|PMID:12114484|PMID:12127154|PMID:12525542|PMID:14635104|PMID:16097006|PMID:16226319|PMID:16283880|PMID:16371502|PMID:17036997|PMID:17512949|PMID:17576681|PMID:18381613|PMID:18804553|PMID:19250381|PMID:19461658|PMID:19636622|PMID:20146813|PMID:20211493|PMID:20224275|PMID:20230791|PMID:20301429|PMID:20504331|PMID:21117948|PMID:21216247|PMID:21557232|PMID:21935370|PMID:22575033|PMID:22607986|PMID:22906306|PMID:23208854|PMID:23562982|PMID:24033266|PMID:24053799|PMID:24746455|PMID:24814232|PMID:25262649|PMID:25326637|PMID:25525159|PMID:25741868|PMID:25991456|PMID:26186295|PMID:26188103|PMID:26434960|PMID:26445815|PMID:26467025|PMID:26632695|PMID:26763877|PMID:26818607|PMID:26969326|PMID:27018795|PMID:27068579|PMID:27082237|PMID:27177047|PMID:27621663|PMID:27652356|PMID:27657688|PMID:27729456|PMID:27766948|PMID:27821677|PMID:28335750|PMID:28492532|PMID:28766844|PMID:29048421|PMID:29196752|PMID:29362361|PMID:29484972|PMID:29752989|PMID:30096381|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30368385|PMID:31095577|PMID:31589614|PMID:31827501|PMID:31980526|PMID:32747562|PMID:32906206|PMID:33095980|PMID:33256196|PMID:34113375|PMID:34536124|PMID:34599368|PMID:34652575|PMID:8789454|PMID:9536098|PMID:9657592 12209817 OTOF otoferlin gene DOID:0110553 autosomal dominant nonsyndromic deafness 23 ISO RGD:1344284 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 23 PMID:19461658|PMID:24033266|PMID:25741868|PMID:30311386|PMID:34599368|PMID:34652575 12209817 OTOF otoferlin gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1344284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12209817 OTOF otoferlin gene DOID:10003 sensorineural hearing loss ISO RGD:1344284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:12525542|PMID:16371502|PMID:18381613|PMID:19250381|PMID:19461658|PMID:19636622|PMID:20146813|PMID:20301429|PMID:21117948|PMID:22575033|PMID:22906306|PMID:24033266|PMID:24746455|PMID:25741868|PMID:26188103|PMID:26445815|PMID:26467025|PMID:27082237|PMID:27729456|PMID:28492532|PMID:29196752|PMID:29484972|PMID:30311386|PMID:31589614|PMID:31980526|PMID:32747562|PMID:32906206|PMID:33256196|PMID:34536124|PMID:34599368|PMID:34652575 12209817 OTOF otoferlin gene DOID:1459 hypothyroidism ISO RGD:620646 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cochlea (rat) PMID:17376979|REF_RGD_ID:9491752 12209817 OTOF otoferlin gene DOID:630 genetic disease ISO RGD:1344284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 12209817 OTOF otoferlin gene DOID:9002687 Arthrogryposis and Ectodermal Dysplasia ISO RGD:1344284 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Trichooculodermovertebral syndrome PMID:35802133|PMID:36633841 12209817 OTOF otoferlin gene DOID:9004538 Hearing Loss ISO RGD:1344284 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:18381613|PMID:20146813|PMID:20301429|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27068579|PMID:28492532|PMID:30311386|PMID:31581539 12209817 OTOF otoferlin gene DOID:9008681 Deafness ISO RGD:1344284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 12209888 LRP10 LDL receptor related protein 10 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1321391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12209888 LRP10 LDL receptor related protein 10 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1321391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex 12209888 LRP10 LDL receptor related protein 10 gene DOID:2661 myoepithelioma ISO RGD:1321391 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12209888 LRP10 LDL receptor related protein 10 gene DOID:630 genetic disease ISO RGD:1321391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209888 LRP10 LDL receptor related protein 10 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1321391 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12209888 LRP10 LDL receptor related protein 10 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321391 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12209899 RALGPS1 Ral GEF with PH domain and SH3 binding motif 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12209899 RALGPS1 Ral GEF with PH domain and SH3 binding motif 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1344179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12209899 RALGPS1 Ral GEF with PH domain and SH3 binding motif 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12209899 RALGPS1 Ral GEF with PH domain and SH3 binding motif 1 gene DOID:11054 urinary bladder cancer ISO RGD:1344179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 12209899 RALGPS1 Ral GEF with PH domain and SH3 binding motif 1 gene DOID:630 genetic disease ISO RGD:1344179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209954 MRPL4 mitochondrial ribosomal protein L4 gene DOID:630 genetic disease ISO RGD:1323408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209967 CHTF8 chromosome transmission fidelity factor 8 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1606282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12209967 CHTF8 chromosome transmission fidelity factor 8 gene DOID:630 genetic disease ISO RGD:1606282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209981 OR51F1 olfactory receptor family 51 subfamily F member 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1353833 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12209981 OR51F1 olfactory receptor family 51 subfamily F member 1 gene DOID:630 genetic disease ISO RGD:1353833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209984 RGP1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1323378 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12209984 RGP1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1323378 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12209984 RGP1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:1323378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12209984 RGP1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1323378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12209984 RGP1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1323378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12209984 RGP1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:630 genetic disease ISO RGD:1323378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12209984 RGP1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1323378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12209984 RGP1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1323378 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12209984 RGP1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:9870 galactosemia ISO RGD:1323378 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12210006 TEKTIP1 tektin bundle interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2301120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12210041 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:736397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12210041 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:736397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12210041 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:0080690 RASopathy ISO RGD:736397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12210041 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:0081330 glycogen storage disease Ib ISO RGD:736397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12210041 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:0110651 long QT syndrome 10 ISO RGD:736397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12210041 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:736397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12210041 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:736397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12210041 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:736397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12210041 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:736397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12210041 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:1059 intellectual disability ISO RGD:736397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12210041 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:10754 otitis media ISO RGD:3633 D RGD:9068941 20200609 RGD PMID:12206256|REF_RGD_ID:6484586 12210041 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:11832 visual epilepsy ISO RGD:3633 D RGD:9068941 20200609 RGD Scn2b mRNA levels in hippocampus respond to intraperitoneal kainate, which produces seizures PMID:9672387|REF_RGD_ID:2317305 12210041 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:736397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 12210041 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:630 genetic disease ISO RGD:736397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210041 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:736397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12210041 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:9004100 Familial Atrial Fibrillation 14 ISO RGD:736397 D RGD:7240710 20180130 OMIM 12210041 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:9004100 Familial Atrial Fibrillation 14 ISO RGD:736397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 PMID:17556197|PMID:17576681|PMID:17623065|PMID:19808477|PMID:23559163|PMID:23861362|PMID:24144883|PMID:25741868|PMID:26220970|PMID:28202948|PMID:28341588|PMID:28492532|PMID:28597987|PMID:30662450|PMID:30821013|PMID:31110529|PMID:34320850|PMID:9536098 12210041 SCN2B sodium voltage-gated channel beta subunit 2 gene DOID:9007661 Dwarfism ISO RGD:736397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12210049 SLC35A2 solute carrier family 35 member A2 gene DOID:0060179 Renpenning syndrome ISO RGD:1353471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renpenning syndrome PMID:25741868|PMID:28492532|PMID:32903913 12210049 SLC35A2 solute carrier family 35 member A2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12210049 SLC35A2 solute carrier family 35 member A2 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1353471 D RGD:7240710 20180130 OMIM 12210049 SLC35A2 solute carrier family 35 member A2 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1353471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CDG IIm | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:23561849|PMID:24115232|PMID:25262651|PMID:25741868|PMID:25877686|PMID:26350515|PMID:26467025|PMID:28492532|PMID:28771251|PMID:29907092|PMID:30194038|PMID:30653653|PMID:30746764|PMID:30817854 12210049 SLC35A2 solute carrier family 35 member A2 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1353471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12210049 SLC35A2 solute carrier family 35 member A2 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1353471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12210049 SLC35A2 solute carrier family 35 member A2 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1353471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12210049 SLC35A2 solute carrier family 35 member A2 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1353471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12210049 SLC35A2 solute carrier family 35 member A2 gene DOID:12849 autistic disorder ISO RGD:1353471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12210049 SLC35A2 solute carrier family 35 member A2 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1353471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868 12210049 SLC35A2 solute carrier family 35 member A2 gene DOID:630 genetic disease ISO RGD:1353471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 12210049 SLC35A2 solute carrier family 35 member A2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1353471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 12210061 PBRM1 polybromo 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1605656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12210061 PBRM1 polybromo 1 gene DOID:3275 thymoma ISO RGD:1605656 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24974848 12210061 PBRM1 polybromo 1 gene DOID:3495 extrahepatic bile duct adenocarcinoma disease_progression ISO RGD:1605656 D RGD:9068941 20210827 RGD PMID:25536104|REF_RGD_ID:150340631 12210061 PBRM1 polybromo 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1605656 D RGD:9068941 20210827 RGD PMID:32195359|REF_RGD_ID:150340625 12210061 PBRM1 polybromo 1 gene DOID:4450 renal cell carcinoma ISO RGD:1605656 D RGD:7240710 20210707 OMIM 12210061 PBRM1 polybromo 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1605656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:25911086 12210061 PBRM1 polybromo 1 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:1605656 D RGD:9068941 20210827 RGD PMID:27864835|REF_RGD_ID:150340628 12210061 PBRM1 polybromo 1 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1605656 D RGD:9068941 20220708 RGD protein:increased expression:intrahepatic bile duct (human) PMID:30377796|REF_RGD_ID:152998946 12210061 PBRM1 polybromo 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1605656 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24185509 12210061 PBRM1 polybromo 1 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:1605656 D RGD:9068941 20210827 RGD PMID:29748005|REF_RGD_ID:127285383 12210061 PBRM1 polybromo 1 gene DOID:8778 Crohn's disease ISO RGD:1605656 D RGD:9068941 20210827 RGD mRNA:decreased expression:colon PMID:28940253|REF_RGD_ID:150340627 12210061 PBRM1 polybromo 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1565549 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:heart left ventricle PMID:23702776|REF_RGD_ID:9586349 12210061 PBRM1 polybromo 1 gene DOID:9256 colorectal cancer severity ISO RGD:1605656 D RGD:9068941 20210827 RGD PMID:28940253|REF_RGD_ID:150340627 12210134 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0050451 Brugada syndrome ISO RGD:1349086 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:11527630|PMID:11901046|PMID:12417552|PMID:1309182|PMID:15381640|PMID:15655131|PMID:16199547|PMID:16943940|PMID:17576681|PMID:18355654|PMID:20129283|PMID:21646736|PMID:22789973|PMID:23115331|PMID:23986244|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25301907|PMID:25437880|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:26220970|PMID:26423924|PMID:26711856|PMID:26733327|PMID:27272739|PMID:28074886|PMID:28078312|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29247119|PMID:29911575|PMID:29992996|PMID:30099632|PMID:30135145|PMID:31106349|PMID:31195250|PMID:31292628|PMID:31780880|PMID:32581362|PMID:32948286|PMID:33352116|PMID:9536098 12210134 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0050451 Brugada syndrome ISO RGD:1349086 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:11527630|PMID:11901046|PMID:12097481|PMID:12417552|PMID:1309182|PMID:15381640|PMID:15655131|PMID:16199547|PMID:16943940|PMID:17576681|PMID:18355654|PMID:20129283|PMID:21646736|PMID:22789973|PMID:23115331|PMID:23986244|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25301907|PMID:25437880|PMID:25650408|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:26220970|PMID:26423924|PMID:26711856|PMID:26733327|PMID:27272739|PMID:27711072|PMID:27727376|PMID:27884173|PMID:28074849|PMID:28074886|PMID:28078312|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29016797|PMID:29181379|PMID:29247119|PMID:29264398|PMID:29273096|PMID:29502107|PMID:29874177|PMID:29884292|PMID:29911575|PMID:29992996|PMID:30099632|PMID:30135145|PMID:30177317|PMID:30403391|PMID:30554136|PMID:30662450|PMID:30664616|PMID:30821013|PMID:30847666|PMID:31106349|PMID:31195250|PMID:31292628|PMID:31571979|PMID:31780880|PMID:32581362|PMID:32948286|PMID:33352116|PMID:9536098 12210134 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0050451 Brugada syndrome ISO RGD:1349086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome, lidocaine-induced | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:11527630|PMID:11901046|PMID:12097481|PMID:12417552|PMID:1309182|PMID:15381640|PMID:15655131|PMID:16199547|PMID:16943940|PMID:17576681|PMID:18355654|PMID:19763152|PMID:20129283|PMID:20307669|PMID:21270786|PMID:21646736|PMID:22406018|PMID:22789973|PMID:23115331|PMID:23986244|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25250524|PMID:25301907|PMID:25437880|PMID:25650408|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:25974703|PMID:25998140|PMID:26220970|PMID:26423924|PMID:26711856|PMID:26733327|PMID:27272739|PMID:27711072|PMID:27727376|PMID:27884173|PMID:28074849|PMID:28074886|PMID:28078312|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29016797|PMID:29181379|PMID:29247119|PMID:29264398|PMID:29273096|PMID:29502107|PMID:29874177|PMID:29884292|PMID:29911575|PMID:29992996|PMID:30086531|PMID:30099632|PMID:30135145|PMID:30177317|PMID:30403391|PMID:30554136|PMID:30662450|PMID:30664616|PMID:30821013|PMID:30847666|PMID:30975432|PMID:31106349|PMID:31195250|PMID:31292628|PMID:31571979|PMID:31780880|PMID:31928344|PMID:31977013|PMID:32581362|PMID:32917565|PMID:32948286|PMID:33352116|PMID:34385907|PMID:9536098 12210134 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0050451 Brugada syndrome ISO RGD:1349086 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:11527630|PMID:11901046|PMID:12097481|PMID:12417552|PMID:1309182|PMID:15381640|PMID:15655131|PMID:16199547|PMID:16943940|PMID:17576681|PMID:18355654|PMID:19763152|PMID:20129283|PMID:20307669|PMID:21646736|PMID:22406018|PMID:22789973|PMID:23115331|PMID:23986244|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25250524|PMID:25301907|PMID:25437880|PMID:25650408|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:25998140|PMID:26220970|PMID:26423924|PMID:26711856|PMID:26733327|PMID:27272739|PMID:27711072|PMID:27727376|PMID:27884173|PMID:28074849|PMID:28074886|PMID:28078312|PMID:28106320|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29016797|PMID:29181379|PMID:29247119|PMID:29264398|PMID:29273096|PMID:29502107|PMID:29874177|PMID:29884292|PMID:29911575|PMID:29992996|PMID:30086531|PMID:30099632|PMID:30135145|PMID:30177317|PMID:30403391|PMID:30554136|PMID:30662450|PMID:30664616|PMID:30821013|PMID:30847666|PMID:30975432|PMID:31106349|PMID:31195250|PMID:31292628|PMID:31571979|PMID:31780880|PMID:31928344|PMID:31977013|PMID:32581362|PMID:32917565|PMID:32948286|PMID:33352116|PMID:34385907|PMID:9536098 12210134 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0060224 atrial fibrillation ISO RGD:1349086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062060|PMID:29892015|PMID:30061737 12210134 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0070149 hereditary sensory and autonomic neuropathy type 7 ISO RGD:1349086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 7 PMID:28492532 12210134 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0081075 Marsili syndrome ISO RGD:1349086 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Impaired thermal sensitivity PMID:25741868|PMID:28492532|PMID:32581362 12210134 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0110218 Brugada syndrome 1 ISO RGD:1349086 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:24998131|PMID:25053638|PMID:25085921|PMID:25650408|PMID:25691538|PMID:25691686|PMID:25741868|PMID:26733327|PMID:27711072|PMID:27884173|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29874177|PMID:30662450|PMID:32581362 12210134 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0111730 familial episodic pain syndrome 2 ISO RGD:1349086 D RGD:7240710 20180130 OMIM 12210134 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0111730 familial episodic pain syndrome 2 ISO RGD:1349086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic pain syndrome, familial, 2 PMID:17576681|PMID:23115331|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:26220970|PMID:26423924|PMID:26733327|PMID:27711072|PMID:28074886|PMID:28078312|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29247119|PMID:29874177|PMID:29911575|PMID:30135145|PMID:30403391|PMID:30554136|PMID:30662450|PMID:30821013|PMID:31195250|PMID:31780880|PMID:31928344|PMID:32581362|PMID:32917565|PMID:32948286|PMID:9536098 12210134 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:11446 sciatic neuropathy ISO RGD:3629 D RGD:9068941 20200609 RGD PMID:21965668|REF_RGD_ID:6484251 12210134 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:630 genetic disease ISO RGD:1349086 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11527630|PMID:11901046|PMID:12417552|PMID:1309182|PMID:15381640|PMID:15655131|PMID:16943940|PMID:18355654|PMID:21646736|PMID:23115331|PMID:24998131|PMID:25053638|PMID:25301907|PMID:25437880|PMID:25741868|PMID:28078312|PMID:28106320|PMID:28492532 12210134 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1349086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062061 12210134 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:9002211 Hyperalgesia ISO RGD:1349086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16545521 12210134 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:9002211 Hyperalgesia ISO RGD:3629 D RGD:9068941 20200609 RGD PMID:19070548|REF_RGD_ID:6484253 12210134 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1349086 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:11527630|PMID:11901046|PMID:12097481|PMID:12417552|PMID:1309182|PMID:15381640|PMID:15655131|PMID:16199547|PMID:16943940|PMID:17576681|PMID:18355654|PMID:21646736|PMID:23115331|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25250524|PMID:25301907|PMID:25437880|PMID:25650408|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:25998140|PMID:26220970|PMID:26423924|PMID:26711856|PMID:26733327|PMID:27272739|PMID:27711072|PMID:27727376|PMID:27884173|PMID:28074849|PMID:28074886|PMID:28078312|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29016797|PMID:29181379|PMID:29247119|PMID:29264398|PMID:29273096|PMID:29502107|PMID:29874177|PMID:29884292|PMID:29911575|PMID:29992996|PMID:30086531|PMID:30099632|PMID:30135145|PMID:30177317|PMID:30403391|PMID:30554136|PMID:30662450|PMID:30664616|PMID:30821013|PMID:30847666|PMID:30975432|PMID:31106349|PMID:31195250|PMID:31292628|PMID:31571979|PMID:31780880|PMID:31977013|PMID:32581362|PMID:32917565|PMID:32948286|PMID:34385907|PMID:9536098 12210134 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:9003163 Heart Block ISO RGD:1349086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062061 12210134 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:9005968 Neuralgia ISO RGD:1349086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18400411 12210134 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1349086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 12210134 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:9240 erythromelalgia ISO RGD:1349086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sodium channelopathy-related small fiber neuropathy PMID:25741868|PMID:28492532 12210176 MRPS31 mitochondrial ribosomal protein S31 gene DOID:630 genetic disease ISO RGD:1316990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210191 ATP11B ATPase phospholipid transporting 11B (putative) gene DOID:0111546 Currarino syndrome ISO RGD:1348822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12210191 ATP11B ATPase phospholipid transporting 11B (putative) gene DOID:630 genetic disease ISO RGD:1348822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210225 TRA2B transformer 2 beta homolog gene DOID:0080600 COVID-19 ISO RGD:732515 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12210225 TRA2B transformer 2 beta homolog gene DOID:4448 macular degeneration ISO RGD:732515 D RGD:9068941 20200609 RGD protein:increased expression:retina (human) PMID:24098751|REF_RGD_ID:11038792 12210225 TRA2B transformer 2 beta homolog gene DOID:630 genetic disease ISO RGD:732515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210225 TRA2B transformer 2 beta homolog gene DOID:678 progressive supranuclear palsy ISO RGD:732515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25402454 12210243 SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1603684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy PMID:25741868 12210243 SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1603684 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12210243 SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 gene DOID:1059 intellectual disability ISO RGD:1603684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12210243 SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 gene DOID:12849 autistic disorder ISO RGD:1603684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12210243 SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1603684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12210243 SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1603684 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12210243 SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12210326 LUC7L LUC7 like gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1316796 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12210326 LUC7L LUC7 like gene DOID:1826 epilepsy ISO RGD:1316796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 12210326 LUC7L LUC7 like gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1316796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12210326 LUC7L LUC7 like gene DOID:630 genetic disease ISO RGD:1316796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210355 SCYL3 SCY1 like pseudokinase 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1603625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12210355 SCYL3 SCY1 like pseudokinase 3 gene DOID:630 genetic disease ISO RGD:1603625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210355 SCYL3 SCY1 like pseudokinase 3 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1603625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12210355 SCYL3 SCY1 like pseudokinase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12210390 ASTN2 astrotactin 2 gene DOID:0110133 Bardet-Biedl syndrome 11 ISO RGD:1314130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 11 PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:16606853|PMID:17994549|PMID:19349376|PMID:21775502|PMID:22025579|PMID:22981120|PMID:23142638|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29921608|PMID:31624253|PMID:33296226|PMID:4269389 12210390 ASTN2 astrotactin 2 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1314130 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:23541687|PMID:25351777|PMID:25741868|PMID:28492532 12210390 ASTN2 astrotactin 2 gene DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H ISO RGD:1314130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sarcotubular myopathy PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:17994549|PMID:19349376|PMID:21775502|PMID:22025579|PMID:22981120|PMID:23142638|PMID:23541687|PMID:24033266|PMID:25351777|PMID:25741868|PMID:26467025|PMID:27491411|PMID:28492532|PMID:29921608|PMID:30823891|PMID:31624253|PMID:32419263|PMID:32528171|PMID:33296226|PMID:4269389 12210390 ASTN2 astrotactin 2 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1314130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:24033266 12210390 ASTN2 astrotactin 2 gene DOID:12783 migraine without aura ISO RGD:1314130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683712 12210390 ASTN2 astrotactin 2 gene DOID:12849 autistic disorder ISO RGD:1314130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12210390 ASTN2 astrotactin 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1314130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:16606853|PMID:17994549|PMID:19349376|PMID:21775502|PMID:22025579|PMID:22981120|PMID:23142638|PMID:23541687|PMID:24033266|PMID:25351777|PMID:25741868|PMID:26467025|PMID:27491411|PMID:28492532|PMID:28812413|PMID:29921608|PMID:30564623|PMID:30823891|PMID:31624253|PMID:32419263|PMID:32528171|PMID:33296226|PMID:4269389 12210390 ASTN2 astrotactin 2 gene DOID:423 myopathy ISO RGD:1314130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:17994549|PMID:19349376|PMID:21775502|PMID:22981120|PMID:23142638|PMID:25741868|PMID:28492532|PMID:4269389 12210390 ASTN2 astrotactin 2 gene DOID:5419 schizophrenia ISO RGD:1314130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12210390 ASTN2 astrotactin 2 gene DOID:630 genetic disease ISO RGD:1314130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12210390 ASTN2 astrotactin 2 gene DOID:670 amphetamine abuse ISO RGD:1314130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12210390 ASTN2 astrotactin 2 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1314130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 12210423 REV3L REV3 like, DNA directed polymerase zeta catalytic subunit gene DOID:1520 colon carcinoma ISO RGD:1316069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:25058500|PMID:27165003 12210423 REV3L REV3 like, DNA directed polymerase zeta catalytic subunit gene DOID:630 genetic disease ISO RGD:1316069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12210471 CBLN2 cerebellin 2 precursor gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1320203 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12210471 CBLN2 cerebellin 2 precursor gene DOID:630 genetic disease ISO RGD:1320203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210471 CBLN2 cerebellin 2 precursor gene DOID:6420 pulmonary valve stenosis ISO RGD:1320203 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12210471 CBLN2 cerebellin 2 precursor gene DOID:6432 pulmonary hypertension ISO RGD:1320203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23502781 12210471 CBLN2 cerebellin 2 precursor gene DOID:8445 intestinal volvulus ISO RGD:1320203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12210471 CBLN2 cerebellin 2 precursor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12210471 CBLN2 cerebellin 2 precursor gene DOID:9008419 Volvulus Of Midgut ISO RGD:1320203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12210477 CCNE1 cyclin E1 gene DOID:0050902 medulloblastoma ISO RGD:736488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 12210477 CCNE1 cyclin E1 gene DOID:10763 hypertension ISO RGD:2294 D RGD:9068941 20200609 RGD protein:increased expression:vascular associated smooth muscle cell PMID:12847112|REF_RGD_ID:2289296 12210477 CCNE1 cyclin E1 gene DOID:11054 urinary bladder cancer ISO RGD:736488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20972438|PMID:27514407 12210477 CCNE1 cyclin E1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:736488 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:18047954|REF_RGD_ID:2296035 12210477 CCNE1 cyclin E1 gene DOID:11054 urinary bladder cancer severity ISO RGD:736488 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:16739882|REF_RGD_ID:2289267 12210477 CCNE1 cyclin E1 gene DOID:1612 breast cancer disease_progression ISO RGD:736488 D RGD:9068941 20200609 RGD PMID:17483245|REF_RGD_ID:2289231 12210477 CCNE1 cyclin E1 gene DOID:2237 hepatitis ISO RGD:736489 D RGD:9068941 20220728 RGD PMID:29551768|REF_RGD_ID:153297807 12210477 CCNE1 cyclin E1 gene DOID:3458 breast adenocarcinoma ISO RGD:736488 D RGD:9068941 20200609 RGD DNA:amplification PMID:18089785|REF_RGD_ID:2289225 12210477 CCNE1 cyclin E1 gene DOID:3571 liver cancer disease_progression ISO RGD:2294 D RGD:9068941 20220224 RGD protein:increased expression:liver (rat) PMID:11797828|REF_RGD_ID:151356973 12210477 CCNE1 cyclin E1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:736488 D RGD:9068941 20200609 RGD PMID:11212263|REF_RGD_ID:13673913 12210477 CCNE1 cyclin E1 gene DOID:4001 ovarian carcinoma ISO RGD:2294 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:12713563|REF_RGD_ID:2289335 12210477 CCNE1 cyclin E1 gene DOID:4450 renal cell carcinoma ISO RGD:736488 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:17726548|REF_RGD_ID:2289228 12210477 CCNE1 cyclin E1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:736488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29464035 12210477 CCNE1 cyclin E1 gene DOID:630 genetic disease ISO RGD:736488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210477 CCNE1 cyclin E1 gene DOID:684 hepatocellular carcinoma ISO RGD:2294 D RGD:9068941 20200609 RGD PMID:17196522|REF_RGD_ID:2289277 12210477 CCNE1 cyclin E1 gene DOID:684 hepatocellular carcinoma ISO RGD:736488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12029619|PMID:22634754 12210477 CCNE1 cyclin E1 gene DOID:684 hepatocellular carcinoma ISO RGD:736489 D RGD:9068941 20220728 RGD PMID:29551768|REF_RGD_ID:153297807 12210477 CCNE1 cyclin E1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:736489 D RGD:9068941 20210702 RGD PMID:28100771|REF_RGD_ID:127285675 12210477 CCNE1 cyclin E1 gene DOID:8634 prostate carcinoma in situ ISO RGD:736489 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:14968434|REF_RGD_ID:2289283 12210477 CCNE1 cyclin E1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:736488 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:18301453|REF_RGD_ID:2293574 12210477 CCNE1 cyclin E1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2294 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:16759516|REF_RGD_ID:2289281 12210477 CCNE1 cyclin E1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736488 D RGD:9068941 20200609 RGD associated with Carcinoma, Transitional Cell;protein:decreased expression PMID:16949911|REF_RGD_ID:2289266 12210477 CCNE1 cyclin E1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:736488 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:testis PMID:11358847|REF_RGD_ID:2296041 12210477 CCNE1 cyclin E1 gene DOID:9000918 Disease Progression ISO RGD:736488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19385967 12210477 CCNE1 cyclin E1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736488 D RGD:9068941 20200609 RGD associated with non-small cell lung carcinoma PMID:11212263|REF_RGD_ID:13673913 12210477 CCNE1 cyclin E1 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:736489 D RGD:9068941 20200609 RGD protein:altered processing PMID:17671189|REF_RGD_ID:2289229 12210477 CCNE1 cyclin E1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2294 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17825795|REF_RGD_ID:2289273 12210477 CCNE1 cyclin E1 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:736489 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:14968434|REF_RGD_ID:2289283 12210477 CCNE1 cyclin E1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 12210477 CCNE1 cyclin E1 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:736488 D RGD:9068941 20200609 RGD protein:alternative forms, increased expression:ovary PMID:17647260|REF_RGD_ID:2296042 12210477 CCNE1 cyclin E1 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:736488 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:16116079|REF_RGD_ID:2289287 12210477 CCNE1 cyclin E1 gene DOID:9002801 Recurrence ISO RGD:736488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19385967 12210477 CCNE1 cyclin E1 gene DOID:9002928 Colonic Neoplasms ISO RGD:2294 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:colon PMID:14614307|REF_RGD_ID:2289293 12210477 CCNE1 cyclin E1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:736489 D RGD:9068941 20200609 RGD protein:increased expression:cervix, epithelial cell PMID:17308103|REF_RGD_ID:2289265 12210477 CCNE1 cyclin E1 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:736488 D RGD:9068941 20200609 RGD protein:increased expression:cervix PMID:16538218|REF_RGD_ID:2289268 12210477 CCNE1 cyclin E1 gene DOID:9004009 Reperfusion Injury ISO RGD:2294 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:17584601|REF_RGD_ID:2289275 12210477 CCNE1 cyclin E1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:736488 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:17483252|REF_RGD_ID:2289230 12210477 CCNE1 cyclin E1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2294 D RGD:9068941 20200609 RGD PMID:12602925|REF_RGD_ID:2289337 12210477 CCNE1 cyclin E1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2294 D RGD:9068941 20200609 RGD protein:decreased expression:mammary gland PMID:12649181|REF_RGD_ID:2289336 12210477 CCNE1 cyclin E1 gene DOID:9007170 Bowen's Disease ISO RGD:736488 D RGD:9068941 20200609 RGD associated with Vulvar Neoplasms;mRNA:increased expression:vulva PMID:17471573|REF_RGD_ID:2289255 12210477 CCNE1 cyclin E1 gene DOID:9008939 Breast Neoplasms ISO RGD:736488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19385967|PMID:23624423 12210490 TRIM35 tripartite motif containing 35 gene DOID:630 genetic disease ISO RGD:1344257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210500 ARVCF ARVCF delta catenin family member gene DOID:0060041 autism spectrum disorder ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12210500 ARVCF ARVCF delta catenin family member gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1315392 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12210500 ARVCF ARVCF delta catenin family member gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1315392 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12210500 ARVCF ARVCF delta catenin family member gene DOID:0080600 COVID-19 ISO RGD:1315392 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12210500 ARVCF ARVCF delta catenin family member gene DOID:0111996 immunodeficiency 51 ISO RGD:1315392 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12210500 ARVCF ARVCF delta catenin family member gene DOID:1059 intellectual disability ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12210500 ARVCF ARVCF delta catenin family member gene DOID:10907 microcephaly ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12210500 ARVCF ARVCF delta catenin family member gene DOID:11198 DiGeorge syndrome ISO RGD:1315392 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12210500 ARVCF ARVCF delta catenin family member gene DOID:11372 megacolon ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12210500 ARVCF ARVCF delta catenin family member gene DOID:12583 velocardiofacial syndrome ISO RGD:1315392 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12210500 ARVCF ARVCF delta catenin family member gene DOID:12849 autistic disorder ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12210500 ARVCF ARVCF delta catenin family member gene DOID:12930 dilated cardiomyopathy ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 12210500 ARVCF ARVCF delta catenin family member gene DOID:1826 epilepsy ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12210500 ARVCF ARVCF delta catenin family member gene DOID:2213 hemorrhagic disease ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 12210500 ARVCF ARVCF delta catenin family member gene DOID:2843 long QT syndrome ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12210500 ARVCF ARVCF delta catenin family member gene DOID:5419 schizophrenia ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12210500 ARVCF ARVCF delta catenin family member gene DOID:612 primary immunodeficiency disease ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12210500 ARVCF ARVCF delta catenin family member gene DOID:630 genetic disease ISO RGD:1315392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210500 ARVCF ARVCF delta catenin family member gene DOID:9003871 Venous Thrombosis ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 12210500 ARVCF ARVCF delta catenin family member gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12210500 ARVCF ARVCF delta catenin family member gene DOID:9007661 Dwarfism ISO RGD:1315392 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12210500 ARVCF ARVCF delta catenin family member gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1315392 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12210526 PI4K2A phosphatidylinositol 4-kinase type 2 alpha gene DOID:630 genetic disease ISO RGD:1605063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210539 CHMP2B charged multivesicular body protein 2B gene DOID:0111227 chromosome 3-linked frontotemporal dementia ISO RGD:1603668 D RGD:7240710 20180130 OMIM 12210539 CHMP2B charged multivesicular body protein 2B gene DOID:0111227 chromosome 3-linked frontotemporal dementia ISO RGD:1603668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 PMID:16041373|PMID:16431024|PMID:16807408|PMID:16941655|PMID:16954699|PMID:17576681|PMID:17956895|PMID:20301378|PMID:20352044|PMID:20592581|PMID:20625756|PMID:21222599|PMID:22521643|PMID:22527221|PMID:23155438|PMID:25558820|PMID:25741868|PMID:26467025|PMID:26777436|PMID:26836416|PMID:28166811|PMID:28430856|PMID:28492532|PMID:29411640|PMID:29431110|PMID:29486463|PMID:29525180|PMID:30054184|PMID:30766798|PMID:32638105|PMID:9536098 12210539 CHMP2B charged multivesicular body protein 2B gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1603668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16807408 12210539 CHMP2B charged multivesicular body protein 2B gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1603668 D RGD:9068941 20200609 RGD DNA:mutations:cds:Q206H, I29V (human) PMID:16807408|REF_RGD_ID:5688711 12210539 CHMP2B charged multivesicular body protein 2B gene DOID:630 genetic disease ISO RGD:1603668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210539 CHMP2B charged multivesicular body protein 2B gene DOID:8725 vascular dementia ISO RGD:1603668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 12210539 CHMP2B charged multivesicular body protein 2B gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1603668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17956895 12210539 CHMP2B charged multivesicular body protein 2B gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1603668 D RGD:9068941 20200609 RGD PMID:22366797|REF_RGD_ID:5688397 12210539 CHMP2B charged multivesicular body protein 2B gene DOID:9002031 Frontotemporal Lobar Degeneration no_association ISO RGD:1603668 D RGD:9068941 20200609 RGD PMID:20412296|REF_RGD_ID:5688712 12210539 CHMP2B charged multivesicular body protein 2B gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:1603668 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 PMID:25741868|PMID:26467025 12210539 CHMP2B charged multivesicular body protein 2B gene DOID:9008340 Combined Pituitary Hormone Deficiency, 2 ISO RGD:1603668 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive PMID:25741868|PMID:26467025|PMID:28492532 12210539 CHMP2B charged multivesicular body protein 2B gene DOID:9255 frontotemporal dementia ISO RGD:1603668 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868|PMID:26467025|PMID:28492532 12210539 CHMP2B charged multivesicular body protein 2B gene DOID:9255 frontotemporal dementia no_association ISO RGD:1603668 D RGD:9068941 20200609 RGD PMID:16979267|REF_RGD_ID:5688721 12210549 F2RL1 F2R like trypsin receptor 1 gene DOID:0060496 respiratory allergy ISO RGD:733704 D RGD:9068941 20200609 RGD PMID:20186875|REF_RGD_ID:4892588 12210549 F2RL1 F2R like trypsin receptor 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:733704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 12210549 F2RL1 F2R like trypsin receptor 1 gene DOID:1909 melanoma ISO RGD:733704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 12210549 F2RL1 F2R like trypsin receptor 1 gene DOID:2326 gastroenteritis ISO RGD:733704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12682265 12210549 F2RL1 F2R like trypsin receptor 1 gene DOID:2841 asthma ISO RGD:733704 D RGD:9068941 20200609 RGD PMID:19864598|REF_RGD_ID:4892589 12210549 F2RL1 F2R like trypsin receptor 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:733704 D RGD:9068941 20200609 RGD PMID:21245013|REF_RGD_ID:4892586 12210549 F2RL1 F2R like trypsin receptor 1 gene DOID:630 genetic disease ISO RGD:733704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210549 F2RL1 F2R like trypsin receptor 1 gene DOID:850 lung disease ISO RGD:620866 D RGD:9068941 20200609 RGD PMID:19766246|REF_RGD_ID:4892587 12210549 F2RL1 F2R like trypsin receptor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:1553673 D RGD:9068941 20200609 RGD PMID:12511586|REF_RGD_ID:735010 12210549 F2RL1 F2R like trypsin receptor 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:733704 D RGD:9068941 20200609 RGD PMID:17727088|REF_RGD_ID:4892590 12210549 F2RL1 F2R like trypsin receptor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12210549 F2RL1 F2R like trypsin receptor 1 gene DOID:9005372 Inflammation ISO RGD:733704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12682265|PMID:24795235 12210549 F2RL1 F2R like trypsin receptor 1 gene DOID:9006202 Pruritus ISO RGD:733704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19712758 12210549 F2RL1 F2R like trypsin receptor 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:733704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12210553 ACTA1 actin alpha 1, skeletal muscle gene DOID:0080102 congenital fiber-type disproportion ISO RGD:737580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10508519|PMID:10528865|PMID:12921789|PMID:15226407|PMID:15236405|PMID:15468086|PMID:17387733|PMID:17576681|PMID:18059071|PMID:18414213|PMID:19206168|PMID:19562689|PMID:20301436|PMID:21520333|PMID:22825594|PMID:23757202|PMID:24033266|PMID:24356988|PMID:24642510|PMID:25741868|PMID:26172852|PMID:26467025|PMID:27447704|PMID:28492532|PMID:29172004|PMID:9536098 12210553 ACTA1 actin alpha 1, skeletal muscle gene DOID:0080685 aortic dissection ISO RGD:737580 D RGD:9068941 20220929 RGD protein:decreased expression:aorta (human) PMID:28167124|REF_RGD_ID:155260287 12210553 ACTA1 actin alpha 1, skeletal muscle gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:737580 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy with rigid spine PMID:25182138|PMID:27854218 12210553 ACTA1 actin alpha 1, skeletal muscle gene DOID:0110927 nemaline myopathy 3 ISO RGD:737580 D RGD:7240710 20180130 OMIM 12210553 ACTA1 actin alpha 1, skeletal muscle gene DOID:0110927 nemaline myopathy 3 ISO RGD:737580 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital myopathy 2B, severe infantile, autosomal recessive | ClinVar Annotator: match by term: Congenital myopathy 2C, severe infantile, autosomal dominant | ClinVar Annotator: match by term: Nemaline myopathy 3 | ClinVar Annotator: match by term: Nemaline myopathy 3, autosomal dominant or recessive PMID:10508519|PMID:11333380|PMID:12921789|PMID:1351946|PMID:15226407|PMID:15236405|PMID:15468086|PMID:17187373|PMID:17387733|PMID:18059071|PMID:18414213|PMID:19206168|PMID:19562689|PMID:20301436|PMID:21303860|PMID:22067542|PMID:22095987|PMID:22174871|PMID:22442437|PMID:22825594|PMID:23394784|PMID:24356988|PMID:24642510|PMID:25182138|PMID:25741868|PMID:25938801|PMID:26172852|PMID:26337181|PMID:27447704|PMID:27854218|PMID:28492532|PMID:29288010|PMID:30732915|PMID:30792901|PMID:4952447|PMID:9185179|PMID:9401010 12210553 ACTA1 actin alpha 1, skeletal muscle gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:737580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12210553 ACTA1 actin alpha 1, skeletal muscle gene DOID:1540 parathyroid carcinoma ISO RGD:737580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12210553 ACTA1 actin alpha 1, skeletal muscle gene DOID:3191 nemaline myopathy ISO RGD:737580 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nemaline myopathy PMID:23757202|PMID:25741868|PMID:28492532 12210553 ACTA1 actin alpha 1, skeletal muscle gene DOID:397 restrictive cardiomyopathy ISO RGD:737580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy PMID:10528865|PMID:17576681|PMID:18414213|PMID:19562689|PMID:23757202|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 12210553 ACTA1 actin alpha 1, skeletal muscle gene DOID:422 congenital structural myopathy ISO RGD:737580 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:10508519|PMID:12921789|PMID:15226407|PMID:15236405|PMID:15468086|PMID:18059071|PMID:19562689|PMID:20301436|PMID:22825594|PMID:24356988|PMID:24642510|PMID:25741868|PMID:26172852|PMID:28492532 12210553 ACTA1 actin alpha 1, skeletal muscle gene DOID:440 neuromuscular disease ISO RGD:737580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:12921789|PMID:15226407|PMID:17227580|PMID:19562689|PMID:24033266|PMID:25470062|PMID:25525159|PMID:28492532 12210553 ACTA1 actin alpha 1, skeletal muscle gene DOID:630 genetic disease ISO RGD:737580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12921789|PMID:19284548|PMID:25741868|PMID:28492532 12210553 ACTA1 actin alpha 1, skeletal muscle gene DOID:9000184 Ventricular Fibrillation ISO RGD:2025 D RGD:9068941 20200609 RGD PMID:16452123|REF_RGD_ID:1598720 12210553 ACTA1 actin alpha 1, skeletal muscle gene DOID:9002252 Scapulohumeroperoneal Myopathy ISO RGD:737580 D RGD:7240710 20190315 OMIM 12210553 ACTA1 actin alpha 1, skeletal muscle gene DOID:9002252 Scapulohumeroperoneal Myopathy ISO RGD:737580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, scapulohumeroperoneal PMID:10508519|PMID:12921789|PMID:1351946|PMID:15226407|PMID:15236405|PMID:15468086|PMID:18059071|PMID:19562689|PMID:20301436|PMID:22095987|PMID:22825594|PMID:23394784|PMID:24356988|PMID:24642510|PMID:24787270|PMID:24852243|PMID:25741868|PMID:25938801|PMID:26172852|PMID:26337181|PMID:27447704|PMID:28492532|PMID:29288010|PMID:30732915|PMID:30792901|PMID:4952447|PMID:9401010 12210553 ACTA1 actin alpha 1, skeletal muscle gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10601118 12210553 ACTA1 actin alpha 1, skeletal muscle gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:737580 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:10508519|PMID:10528865|PMID:11166164|PMID:11333380|PMID:11525890|PMID:12921789|PMID:1351946|PMID:14733965|PMID:15138616|PMID:15198992|PMID:15226407|PMID:15236405|PMID:15336687|PMID:15468086|PMID:15520409|PMID:16199547|PMID:16427282|PMID:16945536|PMID:17187373|PMID:17227580|PMID:17387733|PMID:17576681|PMID:17705262|PMID:18059071|PMID:18414213|PMID:19206168|PMID:19553121|PMID:19562689|PMID:20179953|PMID:20301436|PMID:20303757|PMID:20621480|PMID:21514153|PMID:21520333|PMID:22095987|PMID:22825594|PMID:23102861|PMID:23294764|PMID:23305948|PMID:23394784|PMID:23650303|PMID:23757202|PMID:24033266|PMID:24313005|PMID:24356988|PMID:24642510|PMID:24787270|PMID:24852243|PMID:25088345|PMID:25182138|PMID:25214167|PMID:25326635|PMID:25470062|PMID:25525159|PMID:25635128|PMID:25741868|PMID:25747004|PMID:25938801|PMID:25987458|PMID:26172852|PMID:26337181|PMID:26436962|PMID:26467025|PMID:27074222|PMID:27112274|PMID:27447704|PMID:27854218|PMID:28256728|PMID:28357410|PMID:28416349|PMID:28492532|PMID:28606400|PMID:28780987|PMID:29172004|PMID:29274205|PMID:29288010|PMID:29731279|PMID:29792937|PMID:30253894|PMID:30354303|PMID:30732915|PMID:30792901|PMID:31127727|PMID:31321302|PMID:31680123|PMID:31724238|PMID:32154989|PMID:32222963|PMID:32989108|PMID:4952447|PMID:9185179|PMID:9401010|PMID:9536098 12210553 ACTA1 actin alpha 1, skeletal muscle gene DOID:9008386 Hydrops Fetalis ISO RGD:737580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 12210553 ACTA1 actin alpha 1, skeletal muscle gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12210564 GRID1 glutamate ionotropic receptor delta type subunit 1 gene DOID:10283 prostate cancer ISO RGD:68523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12210564 GRID1 glutamate ionotropic receptor delta type subunit 1 gene DOID:630 genetic disease ISO RGD:68523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210564 GRID1 glutamate ionotropic receptor delta type subunit 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:68523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 12210583 MYBBP1A MYB binding protein 1a gene DOID:12849 autistic disorder ISO RGD:69133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12210583 MYBBP1A MYB binding protein 1a gene DOID:630 genetic disease ISO RGD:69133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210583 MYBBP1A MYB binding protein 1a gene DOID:9002304 Prostatic Neoplasms ISO RGD:69133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12210611 LCN2 lipocalin 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:69453 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12210611 LCN2 lipocalin 2 gene DOID:0050855 renal fibrosis ISO RGD:69454 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney cortex: PMID:22342673|REF_RGD_ID:7245951 12210611 LCN2 lipocalin 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:69453 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12210611 LCN2 lipocalin 2 gene DOID:0080322 polycystic kidney disease ISO RGD:69454 D RGD:9068941 20210430 RGD mRNA:increased expression:kidney, epithelial cell PMID:22258321|REF_RGD_ID:126790531 12210611 LCN2 lipocalin 2 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:69453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12210611 LCN2 lipocalin 2 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:69453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 12210611 LCN2 lipocalin 2 gene DOID:0080600 COVID-19 ISO RGD:69453 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 12210611 LCN2 lipocalin 2 gene DOID:0080784 urinary tract infection ISO RGD:69453 D RGD:9068941 20210409 RGD protein:increased expression:urine: PMID:24937428|REF_RGD_ID:126779579 12210611 LCN2 lipocalin 2 gene DOID:0080784 urinary tract infection ameliorates ISO RGD:69454 D RGD:9068941 20210409 RGD PMID:24937428|REF_RGD_ID:126779579 12210611 LCN2 lipocalin 2 gene DOID:0080784 urinary tract infection disease_progression ISO RGD:69454 D RGD:9068941 20210409 RGD PMID:25398327|REF_RGD_ID:126779559 12210611 LCN2 lipocalin 2 gene DOID:0080784 urinary tract infection treatment ISO RGD:69453 D RGD:9068941 20210409 RGD PMID:24937428|REF_RGD_ID:126779579 12210611 LCN2 lipocalin 2 gene DOID:0081292 traumatic brain injury ISO RGD:69408 D RGD:9068941 20210423 RGD PMID:31539545|REF_RGD_ID:126781751 12210611 LCN2 lipocalin 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:69453 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12210611 LCN2 lipocalin 2 gene DOID:10591 pre-eclampsia ISO RGD:69453 D RGD:9068941 20210416 RGD protein:increased expression:serum,urine PMID:23957217|REF_RGD_ID:126781721 12210611 LCN2 lipocalin 2 gene DOID:10608 celiac disease ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 12210611 LCN2 lipocalin 2 gene DOID:10825 essential hypertension ISO RGD:69453 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:22923545|REF_RGD_ID:7245500 12210611 LCN2 lipocalin 2 gene DOID:11111 hydronephrosis ISO RGD:69453 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:21279810|REF_RGD_ID:7245985 12210611 LCN2 lipocalin 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12210611 LCN2 lipocalin 2 gene DOID:12241 beta thalassemia ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16755567 12210611 LCN2 lipocalin 2 gene DOID:13141 uveitis ISO RGD:69408 D RGD:9068941 20210423 RGD protein:increased expression:retina, M��ller cell PMID:29590655|REF_RGD_ID:126781759 12210611 LCN2 lipocalin 2 gene DOID:13148 acute cystitis disease_progression ISO RGD:69453 D RGD:9068941 20210409 RGD associated with urinary tract infection; PMID:25398327|REF_RGD_ID:126779559 12210611 LCN2 lipocalin 2 gene DOID:13272 Klebsiella pneumonia ISO RGD:69454 D RGD:9068941 20210409 RGD protein:increased expression:lung PMID:19342674|REF_RGD_ID:126725085 12210611 LCN2 lipocalin 2 gene DOID:13272 Klebsiella pneumonia ISO RGD:69454 D RGD:9068941 20210409 RGD protein:increased expression:serum PMID:25234944|REF_RGD_ID:126725084 12210611 LCN2 lipocalin 2 gene DOID:13272 Klebsiella pneumonia ameliorates ISO RGD:737014 D RGD:9068941 20210409 RGD PMID:19342674|REF_RGD_ID:126725085 12210611 LCN2 lipocalin 2 gene DOID:13272 Klebsiella pneumonia exacerbates ISO RGD:69454 D RGD:9068941 20210409 RGD PMID:19342674|PMID:25234944|PMID:29633303|REF_RGD_ID:126725082|REF_RGD_ID:126725084|REF_RGD_ID:126725085 12210611 LCN2 lipocalin 2 gene DOID:14262 oral candidiasis ISO RGD:69454 D RGD:9068941 20210409 RGD mRNA:increased expression:tongues: PMID:24343647|REF_RGD_ID:126725083 12210611 LCN2 lipocalin 2 gene DOID:14262 oral candidiasis no_association ISO RGD:69454 D RGD:9068941 20210409 RGD PMID:24343647|REF_RGD_ID:126725083 12210611 LCN2 lipocalin 2 gene DOID:14566 disease of cellular proliferation ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17114340 12210611 LCN2 lipocalin 2 gene DOID:1591 renovascular hypertension ISO RGD:69453 D RGD:9068941 20200609 RGD protein:increased expression:urine,plasma PMID:22923545|REF_RGD_ID:7245500 12210611 LCN2 lipocalin 2 gene DOID:182 calcinosis ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12210611 LCN2 lipocalin 2 gene DOID:1920 hyperuricemia ISO RGD:69453 D RGD:9068941 20200609 RGD PMID:23673972|REF_RGD_ID:7244371 12210611 LCN2 lipocalin 2 gene DOID:219 colon cancer treatment ISO RGD:69408 D RGD:9068941 20200609 RGD PMID:20043115|REF_RGD_ID:2316492 12210611 LCN2 lipocalin 2 gene DOID:224 transient cerebral ischemia ISO RGD:69408 D RGD:9068941 20210423 RGD PMID:24916903|REF_RGD_ID:126790489 12210611 LCN2 lipocalin 2 gene DOID:224 transient cerebral ischemia ISO RGD:69408 D RGD:9068941 20210423 RGD protein:increased expression:brain PMID:29122651|REF_RGD_ID:126781757 12210611 LCN2 lipocalin 2 gene DOID:2280 hidradenitis suppurativa disease_progression ISO RGD:69453 D RGD:9068941 20210416 RGD PMID:28256718|REF_RGD_ID:126781708 12210611 LCN2 lipocalin 2 gene DOID:2365 West Nile encephalitis ISO RGD:69454 D RGD:9068941 20210423 RGD mRNA,protein:increased expression:brain PMID:24173226|REF_RGD_ID:126781836 12210611 LCN2 lipocalin 2 gene DOID:2773 contact dermatitis ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12210611 LCN2 lipocalin 2 gene DOID:2957 pulmonary tuberculosis disease_progression ISO RGD:69454 D RGD:9068941 20210409 RGD PMID:30534124|REF_RGD_ID:126779565 12210611 LCN2 lipocalin 2 gene DOID:2957 pulmonary tuberculosis exacerbates ISO RGD:69454 D RGD:9068941 20210409 RGD PMID:19050270|REF_RGD_ID:126779558 12210611 LCN2 lipocalin 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:69453 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:21467131|REF_RGD_ID:7245983 12210611 LCN2 lipocalin 2 gene DOID:3021 acute kidney failure ISO RGD:69408 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:23683031|REF_RGD_ID:7244370 12210611 LCN2 lipocalin 2 gene DOID:3021 acute kidney failure ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750|PMID:22005293|PMID:23052191|PMID:27888128|PMID:28885000 12210611 LCN2 lipocalin 2 gene DOID:3021 acute kidney failure ISO RGD:69453 D RGD:9068941 20210409 RGD associated with open cardiac surgeries;protein:increased expression:urine: PMID:28411423|REF_RGD_ID:125973912 12210611 LCN2 lipocalin 2 gene DOID:3021 acute kidney failure ISO RGD:69453 D RGD:9068941 20210416 RGD protein:increased expression:urine PMID:23336369|REF_RGD_ID:126781714 12210611 LCN2 lipocalin 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:69408 D RGD:9068941 20210423 RGD protein:increased expression:spinal cord PMID:23431168|REF_RGD_ID:126781758 12210611 LCN2 lipocalin 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:69408 D RGD:9068941 20210430 RGD mRNA:decreased expression:lung PMID:27592368|REF_RGD_ID:126790533 12210611 LCN2 lipocalin 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:69453 D RGD:9068941 20210430 RGD protein:decreased expression:amniotic fluid PMID:27592368|REF_RGD_ID:126790533 12210611 LCN2 lipocalin 2 gene DOID:4079 heart valve disease ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12210611 LCN2 lipocalin 2 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:69453 D RGD:9068941 20210423 RGD Protein:increased expression:bile duct PMID:24939880|REF_RGD_ID:126790491 12210611 LCN2 lipocalin 2 gene DOID:4928 intrahepatic cholangiocarcinoma treatment ISO RGD:69408 D RGD:9068941 20210423 RGD PMID:24939880|REF_RGD_ID:126790491 12210611 LCN2 lipocalin 2 gene DOID:552 pneumonia exacerbates ISO RGD:69454 D RGD:9068941 20210409 RGD associated with Escherichia Coli Infections PMID:20633248|REF_RGD_ID:126779583 12210611 LCN2 lipocalin 2 gene DOID:557 kidney disease ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19349640|PMID:20181666|PMID:20438795|PMID:27026710 12210611 LCN2 lipocalin 2 gene DOID:557 kidney disease disease_progression ISO RGD:69453 D RGD:9068941 20200609 RGD associated with Antineutrophil Cytoplasmic Antibody-associated Vasculitis; PMID:23547217|REF_RGD_ID:7244373 12210611 LCN2 lipocalin 2 gene DOID:5844 myocardial infarction ameliorates ISO RGD:69454 D RGD:9068941 20210430 RGD PMID:27800610|REF_RGD_ID:126790572 12210611 LCN2 lipocalin 2 gene DOID:630 genetic disease ISO RGD:69453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210611 LCN2 lipocalin 2 gene DOID:6432 pulmonary hypertension ISO RGD:69408 D RGD:9068941 20210423 RGD mRNA,protein:increased expression:lung PMID:25076856|REF_RGD_ID:126781744 12210611 LCN2 lipocalin 2 gene DOID:6432 pulmonary hypertension ISO RGD:69453 D RGD:9068941 20210423 RGD associated with congenital heart disease; protein:increased expression:plasma PMID:25076856|REF_RGD_ID:126781744 12210611 LCN2 lipocalin 2 gene DOID:7148 rheumatoid arthritis ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7554268 12210611 LCN2 lipocalin 2 gene DOID:783 end stage renal disease onset ISO RGD:69453 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:22542304|REF_RGD_ID:7245503 12210611 LCN2 lipocalin 2 gene DOID:784 chronic kidney disease ISO RGD:69453 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:24714768|PMID:33052911 12210611 LCN2 lipocalin 2 gene DOID:784 chronic kidney disease disease_progression ISO RGD:69454 D RGD:9068941 20210423 RGD PMID:20921623|REF_RGD_ID:126781837 12210611 LCN2 lipocalin 2 gene DOID:820 myocarditis ISO RGD:69408 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:20057160|REF_RGD_ID:2316490 12210611 LCN2 lipocalin 2 gene DOID:8466 retinal degeneration ameliorates ISO RGD:69408 D RGD:9068941 20210423 RGD PMID:30574656|REF_RGD_ID:126781752 12210611 LCN2 lipocalin 2 gene DOID:8466 retinal degeneration exacerbates ISO RGD:69408 D RGD:9068941 20210423 RGD PMID:30574656|REF_RGD_ID:126781752 12210611 LCN2 lipocalin 2 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:69453 D RGD:9068941 20210430 RGD protein:increased expression:serum, urine PMID:22258321|REF_RGD_ID:126790531 12210611 LCN2 lipocalin 2 gene DOID:898 autosomal dominant polycystic kidney disease disease_progression ISO RGD:69453 D RGD:9068941 20210423 RGD PMID:20921623|REF_RGD_ID:126781837 12210611 LCN2 lipocalin 2 gene DOID:9000109 Haemophilus Infections ISO RGD:69454 D RGD:9068941 20210416 RGD mRNA,protein:increased expression:respiratory epithelium, olfactory mucosa epithelium PMID:16153241|REF_RGD_ID:126781709 12210611 LCN2 lipocalin 2 gene DOID:9000325 Abscess ISO RGD:69408 D RGD:9068941 20210423 RGD mRNA,Protein:increased expression:kidney, liver, serum PMID:22249220|REF_RGD_ID:126781756 12210611 LCN2 lipocalin 2 gene DOID:9000438 Subarachnoid Hemorrhage ameliorates ISO RGD:69454 D RGD:9068941 20210423 RGD PMID:26463936|REF_RGD_ID:126781835 12210611 LCN2 lipocalin 2 gene DOID:9000722 Animal Hepatitis ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18559427 12210611 LCN2 lipocalin 2 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:69408 D RGD:9068941 20210430 RGD mRNA,protein:increased expression:liver, heart, kidney,spleen, serum, PMID:23331620|REF_RGD_ID:126790570 12210611 LCN2 lipocalin 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24570342 12210611 LCN2 lipocalin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 12210611 LCN2 lipocalin 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69408 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:22997966|REF_RGD_ID:7245497 12210611 LCN2 lipocalin 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69453 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus,Type 2;protein:increased expression:urine: PMID:22015481|REF_RGD_ID:7245960 12210611 LCN2 lipocalin 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:69408 D RGD:9068941 20210423 RGD PMID:23416150|REF_RGD_ID:126790480 12210611 LCN2 lipocalin 2 gene DOID:9002953 Escherichia Coli Infections ISO RGD:69454 D RGD:9068941 20210409 RGD protein:increased expression:serum PMID:25234944|REF_RGD_ID:126725084 12210611 LCN2 lipocalin 2 gene DOID:9002953 Escherichia Coli Infections exacerbates ISO RGD:69454 D RGD:9068941 20210409 RGD PMID:16446425|PMID:25234944|REF_RGD_ID:126725084|REF_RGD_ID:126779557 12210611 LCN2 lipocalin 2 gene DOID:9004484 Sepsis exacerbates ISO RGD:69454 D RGD:9068941 20210416 RGD PMID:22786765|REF_RGD_ID:126781712 12210611 LCN2 lipocalin 2 gene DOID:9005372 Inflammation ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20118187 12210611 LCN2 lipocalin 2 gene DOID:9005465 Renal Ischemia ISO RGD:69454 D RGD:9068941 20210430 RGD protein:increased expression:urine PMID:27800610|REF_RGD_ID:126790572 12210611 LCN2 lipocalin 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69408 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (rat) PMID:15623795|REF_RGD_ID:2316515 12210611 LCN2 lipocalin 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69408 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:23085980|REF_RGD_ID:7245484 12210611 LCN2 lipocalin 2 gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:69408 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:urine PMID:23085980|REF_RGD_ID:7245484 12210611 LCN2 lipocalin 2 gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:69408 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:23335628|REF_RGD_ID:7245471 12210611 LCN2 lipocalin 2 gene DOID:9005930 Endotoxemia ISO RGD:69454 D RGD:9068941 20210409 RGD mRNA:increased expression:brain,liver PMID:21943033|REF_RGD_ID:126779582 12210611 LCN2 lipocalin 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:69408 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:23364806|REF_RGD_ID:7245469 12210611 LCN2 lipocalin 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:69453 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:23085062|REF_RGD_ID:7245489 12210611 LCN2 lipocalin 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:69454 D RGD:9068941 20210409 RGD mRNA,protein:increased expression:kidney: PMID:20181666|REF_RGD_ID:126779563 12210611 LCN2 lipocalin 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:69454 D RGD:9068941 20210430 RGD mRNA,protein:increased expression:kidney,urine PMID:27800610|REF_RGD_ID:126790572 12210611 LCN2 lipocalin 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12210611 LCN2 lipocalin 2 gene DOID:9006844 Streptococcal Infections ISO RGD:69454 D RGD:9068941 20210416 RGD mRNA,protein:increased expression:respiratory epithelium, olfactory mucosa epithelium PMID:16153241|REF_RGD_ID:126781709 12210611 LCN2 lipocalin 2 gene DOID:9007096 Stroke ISO RGD:69453 D RGD:9068941 20210423 RGD protein:increased expression:brain, neuron PMID:24916903|REF_RGD_ID:126790489 12210611 LCN2 lipocalin 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:69453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20362651|PMID:20623750 12210611 LCN2 lipocalin 2 gene DOID:9008114 Helicobacter Infections ISO RGD:69453 D RGD:9068941 20210416 RGD protein:increased expression:gastric mucosa PMID:19727808|REF_RGD_ID:126781713 12210611 LCN2 lipocalin 2 gene DOID:9008527 Chlamydophila Infections exacerbates ISO RGD:69454 D RGD:9068941 20210416 RGD PMID:23317919|REF_RGD_ID:126781720 12210611 LCN2 lipocalin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69453 D RGD:9068941 20210416 RGD protein:increased expression:serum: PMID:19949414|REF_RGD_ID:126779589 12210611 LCN2 lipocalin 2 gene DOID:9970 obesity ISO RGD:69408 D RGD:9068941 20200609 RGD mRNA:increased expression:epididymal fat pad, adipose cell (rat) PMID:18292240|REF_RGD_ID:2316514 12210611 LCN2 lipocalin 2 gene DOID:9970 obesity ISO RGD:69408 D RGD:9068941 20210423 RGD mRNA:decreased expression:ovary, testicle PMID:32627017|REF_RGD_ID:126790490 12210611 LCN2 lipocalin 2 gene DOID:9970 obesity ISO RGD:69453 D RGD:9068941 20210430 RGD protein:increased expression:serum PMID:21143924|REF_RGD_ID:126790530 12210623 BTNL9 butyrophilin like 9 gene DOID:630 genetic disease ISO RGD:1353775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210638 RRAGB Ras related GTP binding B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12210638 RRAGB Ras related GTP binding B gene DOID:12849 autistic disorder ISO RGD:1343212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12210638 RRAGB Ras related GTP binding B gene DOID:630 genetic disease ISO RGD:1343212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210659 MTMR2 myotubularin related protein 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1323545 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10802647|PMID:11335693|PMID:11354824|PMID:12398840|PMID:16199547|PMID:17576681|PMID:20981092|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:32214227|PMID:32376792|PMID:9536098 12210659 MTMR2 myotubularin related protein 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1323545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10802647|PMID:11335693|PMID:11354824|PMID:12045210|PMID:12398840|PMID:14530412|PMID:16199547|PMID:17576681|PMID:17973976|PMID:20981092|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:32214227|PMID:32376792|PMID:8190646|PMID:9536098 12210659 MTMR2 myotubularin related protein 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1323545 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:10802647|PMID:10856930|PMID:11283303|PMID:11335693|PMID:11354824|PMID:12045210|PMID:12398840|PMID:12668758|PMID:12925573|PMID:14530412|PMID:16162938|PMID:16199547|PMID:17576681|PMID:17973976|PMID:19587293|PMID:20410104|PMID:20981092|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:32214227|PMID:32376792|PMID:32657593|PMID:8190646|PMID:9536098 12210659 MTMR2 myotubularin related protein 2 gene DOID:0080142 mosaic variegated aneuploidy syndrome 2 ISO RGD:1323545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 2 PMID:28492532 12210659 MTMR2 myotubularin related protein 2 gene DOID:0110191 Charcot-Marie-Tooth disease type 4B1 ISO RGD:1323545 D RGD:7240710 20180130 OMIM 12210659 MTMR2 myotubularin related protein 2 gene DOID:0110191 Charcot-Marie-Tooth disease type 4B1 ISO RGD:1323545 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B1 PMID:10802647|PMID:11354824|PMID:12398840|PMID:17576681|PMID:20301641|PMID:20981092|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:31070812|PMID:31680794|PMID:32214227|PMID:32376792|PMID:9536098 12210659 MTMR2 myotubularin related protein 2 gene DOID:1059 intellectual disability ISO RGD:1323545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12210659 MTMR2 myotubularin related protein 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1323545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10802647|PMID:11335693|PMID:11354824|PMID:12045210|PMID:12398840|PMID:14530412|PMID:15469949|PMID:15505184|PMID:17973976|PMID:20981092|PMID:23781969|PMID:25025039|PMID:25231362|PMID:25741868|PMID:26467025|PMID:27582484|PMID:28492532|PMID:32376792 12210659 MTMR2 myotubularin related protein 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1323545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12210659 MTMR2 myotubularin related protein 2 gene DOID:630 genetic disease ISO RGD:1323545 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10802647|PMID:10856930|PMID:11283303|PMID:12668758|PMID:12925573|PMID:14530412|PMID:15998640|PMID:16162938|PMID:17576681|PMID:19587293|PMID:20410104|PMID:25741868|PMID:26467025|PMID:27582484|PMID:28492532|PMID:31070812|PMID:31680794|PMID:32376792|PMID:32657593|PMID:9536098 12210694 KLF15 KLF transcription factor 15 gene DOID:12932 endomyocardial fibrosis ISO RGD:737261 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34310909 12210694 KLF15 KLF transcription factor 15 gene DOID:3627 aortic aneurysm ISO RGD:737262 D RGD:9068941 20220825 MouseDO 12210694 KLF15 KLF transcription factor 15 gene DOID:630 genetic disease ISO RGD:737261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210694 KLF15 KLF transcription factor 15 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737261 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12210694 KLF15 KLF transcription factor 15 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:737261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12210694 KLF15 KLF transcription factor 15 gene DOID:9270 alkaptonuria ISO RGD:737261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12210704 LRRC24 leucine rich repeat containing 24 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1605162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:12952869|PMID:28492532 12210704 LRRC24 leucine rich repeat containing 24 gene DOID:630 genetic disease ISO RGD:1605162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210718 PIGB phosphatidylinositol glycan anchor biosynthesis class B gene DOID:0060833 Griscelli syndrome type 2 ISO RGD:1316334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 2 PMID:10835631|PMID:23160464|PMID:28492532 12210718 PIGB phosphatidylinositol glycan anchor biosynthesis class B gene DOID:0112216 developmental and epileptic encephalopathy 80 ISO RGD:1316334 D RGD:7240710 20191002 OMIM 12210718 PIGB phosphatidylinositol glycan anchor biosynthesis class B gene DOID:0112216 developmental and epileptic encephalopathy 80 ISO RGD:1316334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 80 PMID:17343268|PMID:25326635|PMID:25741868|PMID:28492532|PMID:31256876|PMID:34400385 12210718 PIGB phosphatidylinositol glycan anchor biosynthesis class B gene DOID:2717 Bloom syndrome ISO RGD:1316334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12210718 PIGB phosphatidylinositol glycan anchor biosynthesis class B gene DOID:630 genetic disease ISO RGD:1316334 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12210718 PIGB phosphatidylinositol glycan anchor biosynthesis class B gene DOID:9002100 Hyperphosphatasia with Mental Retardation Syndrome 1 ISO RGD:1316334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 PMID:25326635|PMID:25741868|PMID:31256876 12210718 PIGB phosphatidylinositol glycan anchor biosynthesis class B gene DOID:9256 colorectal cancer ISO RGD:1316334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12210734 ADGRG3 adhesion G protein-coupled receptor G3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1313843 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12210734 ADGRG3 adhesion G protein-coupled receptor G3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1313843 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12210734 ADGRG3 adhesion G protein-coupled receptor G3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12210734 ADGRG3 adhesion G protein-coupled receptor G3 gene DOID:630 genetic disease ISO RGD:1313843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210750 SYT8 synaptotagmin 8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1347431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12210750 SYT8 synaptotagmin 8 gene DOID:0080773 delta beta-thalassemia ISO RGD:1347431 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12210750 SYT8 synaptotagmin 8 gene DOID:0111969 immunodeficiency 39 ISO RGD:1347431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12210750 SYT8 synaptotagmin 8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1347431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12210750 SYT8 synaptotagmin 8 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1347431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12210750 SYT8 synaptotagmin 8 gene DOID:630 genetic disease ISO RGD:1347431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210750 SYT8 synaptotagmin 8 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1347431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12210772 NKX2-3 NK2 homeobox 3 gene DOID:630 genetic disease ISO RGD:1318340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210772 NKX2-3 NK2 homeobox 3 gene DOID:8577 ulcerative colitis ISO RGD:1318340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438405|PMID:18438406|PMID:20228799 12210772 NKX2-3 NK2 homeobox 3 gene DOID:8778 Crohn's disease ISO RGD:1318340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17554261|PMID:18438405|PMID:18438406 12210778 SERTM1 serine rich and transmembrane domain containing 1 gene DOID:630 genetic disease ISO RGD:1601910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210796 CATSPER4 cation channel sperm associated 4 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1350186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 12210796 CATSPER4 cation channel sperm associated 4 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1350186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12210796 CATSPER4 cation channel sperm associated 4 gene DOID:630 genetic disease ISO RGD:1350186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210815 ZNF35 zinc finger protein 35 gene DOID:630 genetic disease ISO RGD:1320503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210831 MIR433 microRNA mir-433 gene DOID:0050700 cardiomyopathy ISO RGD:1604872 D RGD:9068941 20200609 RGD PMID:27698941|REF_RGD_ID:14700802 12210831 MIR433 microRNA mir-433 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1604872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 12210831 MIR433 microRNA mir-433 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1604872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12210831 MIR433 microRNA mir-433 gene DOID:9002170 Experimental Neoplasms ISO RGD:1604872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12210831 MIR433 microRNA mir-433 gene DOID:9003139 Cardiac Fibrosis ISO RGD:1607585 D RGD:9068941 20200609 RGD associated with myocardial infarction PMID:27698941|REF_RGD_ID:14700802 12210831 MIR433 microRNA mir-433 gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:1607585 D RGD:9068941 20200609 RGD associated with myocardial infarction PMID:27698941|REF_RGD_ID:14700802 12210831 MIR433 microRNA mir-433 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1604872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12210917 ZNF566 zinc finger protein 566 gene DOID:630 genetic disease ISO RGD:1349368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210951 DMKN dermokine gene DOID:0110222 Brugada syndrome 5 ISO RGD:1605012 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12210951 DMKN dermokine gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12210951 DMKN dermokine gene DOID:543 dystonia ISO RGD:1605012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12210951 DMKN dermokine gene DOID:630 genetic disease ISO RGD:1605012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:0050700 cardiomyopathy ISO RGD:734022 D RGD:9068941 20210122 RGD mRNA, protein:alternative form, increased expression:heart PMID:23462508|REF_RGD_ID:40924663 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:0050933 ovarian serous carcinoma disease_progression ISO RGD:734022 D RGD:9068941 20210115 RGD PMID:25455994|REF_RGD_ID:40907066 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:0060318 acute promyelocytic leukemia disease_progression ISO RGD:734022 D RGD:9068941 20210115 RGD PMID:24296270|REF_RGD_ID:40907062 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:1059 intellectual disability ISO RGD:734022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:10652 Alzheimer's disease ISO RGD:67378 D RGD:9068941 20210122 RGD PMID:31028587|REF_RGD_ID:40925918 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:11260 rabies ISO RGD:736988 D RGD:9068941 20210115 RGD PMID:9696812|REF_RGD_ID:40907065 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:1459 hypothyroidism ISO RGD:67378 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:20412599|REF_RGD_ID:2326028 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:1596 depressive disorder treatment ISO RGD:67378 D RGD:9068941 20210122 RGD PMID:29217494|REF_RGD_ID:13703051 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:734022 D RGD:9068941 20200609 RGD PMID:11249065|REF_RGD_ID:2326074 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:1793 pancreatic cancer severity ISO RGD:734022 D RGD:9068941 20200609 RGD PMID:10374842|REF_RGD_ID:2326075 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:3073 brain glioblastoma multiforme disease_progression ISO RGD:734022 D RGD:9068941 20210122 RGD PMID:20219118|REF_RGD_ID:40924672 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:3312 bipolar disorder ISO RGD:734022 D RGD:9068941 20200609 RGD DNA:snps:introns:IVS6+32T>C, IVS7+11G>C, IVS12+21C>A (human) PMID:15050861|REF_RGD_ID:1358750 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:67378 D RGD:9068941 20210122 RGD PMID:29497380|REF_RGD_ID:40925919 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:734022 D RGD:9068941 20210115 RGD PMID:32962079|REF_RGD_ID:40924633 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:3892 insulinoma ISO RGD:734022 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:8972754|REF_RGD_ID:2326080 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:4947 cholangiocarcinoma ISO RGD:734022 D RGD:9068941 20200609 RGD associated with hepatitis PMID:12031086|REF_RGD_ID:2326079 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:5419 schizophrenia ISO RGD:734022 D RGD:9068941 20210122 RGD PMID:30664618|REF_RGD_ID:40925920 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:734022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:5844 myocardial infarction ISO RGD:67378 D RGD:9068941 20210122 RGD protein:alternative form, increased expression:myocardium PMID:23462508|REF_RGD_ID:40924663 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:5844 myocardial infarction ISO RGD:736988 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart PMID:19853610|REF_RGD_ID:2325979 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:6000 congestive heart failure ISO RGD:67378 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart PMID:19853610|REF_RGD_ID:2325979 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:734022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:657 adenoma ISO RGD:734022 D RGD:9068941 20200609 RGD protein:increased expression:gallbladder PMID:15100237|REF_RGD_ID:2326070 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:9000011 Gallbladder Neoplasms disease_progression ISO RGD:734022 D RGD:9068941 20200609 RGD protein:increased expression:epithelial cell PMID:15100237|REF_RGD_ID:2326070 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:734022 D RGD:9068941 20210115 RGD PMID:28529158|REF_RGD_ID:40924632 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736988 D RGD:9068941 20200609 RGD PMID:10086383|REF_RGD_ID:2326067 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:67378 D RGD:9068941 20210122 RGD protein:decreased expression:hippocampus PMID:17064783|REF_RGD_ID:40924670 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:9002936 Bile Duct Neoplasms ISO RGD:734022 D RGD:9068941 20200609 RGD PMID:9851639|REF_RGD_ID:2326076 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:9002936 Bile Duct Neoplasms disease_progression ISO RGD:734022 D RGD:9068941 20200609 RGD PMID:8501910|REF_RGD_ID:2326077 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:734022 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:734022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:9004332 Osteoarthritis, Experimental ISO RGD:67378 D RGD:9068941 20210122 RGD protein:decreased expression:skeletal joint PMID:31742919|REF_RGD_ID:40924673 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:734022 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19700239 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:9008091 Optic Nerve Injuries ISO RGD:736988 D RGD:9068941 20230223 RGD PMID:18757519|REF_RGD_ID:2326023 12210984 NCAM1 neural cell adhesion molecule 1 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:734022 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic islet PMID:15714132|REF_RGD_ID:2326066 12211050 USP42 ubiquitin specific peptidase 42 gene DOID:630 genetic disease ISO RGD:1313136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211078 PSMD10 proteasome 26S subunit, non-ATPase 10 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:736379 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 12211078 PSMD10 proteasome 26S subunit, non-ATPase 10 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12211078 PSMD10 proteasome 26S subunit, non-ATPase 10 gene DOID:12849 autistic disorder ISO RGD:736379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12211078 PSMD10 proteasome 26S subunit, non-ATPase 10 gene DOID:630 genetic disease ISO RGD:736379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211090 PPP6R2 protein phosphatase 6 regulatory subunit 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1347490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12211090 PPP6R2 protein phosphatase 6 regulatory subunit 2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1347490 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12211090 PPP6R2 protein phosphatase 6 regulatory subunit 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1347490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12211090 PPP6R2 protein phosphatase 6 regulatory subunit 2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1347490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12211090 PPP6R2 protein phosphatase 6 regulatory subunit 2 gene DOID:0110194 Charcot-Marie-Tooth disease type 4B3 ISO RGD:1347490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3 PMID:23749797|PMID:33987933 12211090 PPP6R2 protein phosphatase 6 regulatory subunit 2 gene DOID:10283 prostate cancer ISO RGD:1347490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12211090 PPP6R2 protein phosphatase 6 regulatory subunit 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1347490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12211090 PPP6R2 protein phosphatase 6 regulatory subunit 2 gene DOID:1059 intellectual disability ISO RGD:1347490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12211090 PPP6R2 protein phosphatase 6 regulatory subunit 2 gene DOID:630 genetic disease ISO RGD:1347490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211124 STX19 syntaxin 19 gene DOID:0111003 Joubert syndrome 8 ISO RGD:1605776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 8 PMID:28492532 12211124 STX19 syntaxin 19 gene DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency ISO RGD:1605776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive PMID:16363235|PMID:22627709|PMID:28492532|PMID:9241758 12211124 STX19 syntaxin 19 gene DOID:2451 protein S deficiency ISO RGD:1605776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Protein S deficiency disease PMID:32581362 12211124 STX19 syntaxin 19 gene DOID:630 genetic disease ISO RGD:1605776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211135 SLIT3 slit guidance ligand 3 gene DOID:0060224 atrial fibrillation ISO RGD:733245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12211135 SLIT3 slit guidance ligand 3 gene DOID:0111951 immunodeficiency 40 ISO RGD:733245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 12211135 SLIT3 slit guidance ligand 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:69311 D RGD:9068941 20230406 RGD mRNA:increased expression:lung PMID:19944214|REF_RGD_ID:243048459 12211135 SLIT3 slit guidance ligand 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:735860 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 12211135 SLIT3 slit guidance ligand 3 gene DOID:630 genetic disease ISO RGD:733245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211135 SLIT3 slit guidance ligand 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:735860 D RGD:9068941 20200609 RGD PMID:16262652|REF_RGD_ID:2316136 12211135 SLIT3 slit guidance ligand 3 gene DOID:9000998 Brain Injuries ISO RGD:69311 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:16262652|REF_RGD_ID:2316136 12211135 SLIT3 slit guidance ligand 3 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:733245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17436238 12211174 FRMD6 FERM domain containing 6 gene DOID:630 genetic disease ISO RGD:1347019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211200 USP26 ubiquitin specific peptidase 26 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12211200 USP26 ubiquitin specific peptidase 26 gene DOID:12849 autistic disorder ISO RGD:1354275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12211200 USP26 ubiquitin specific peptidase 26 gene DOID:630 genetic disease ISO RGD:1354275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211200 USP26 ubiquitin specific peptidase 26 gene DOID:9005967 X-Linked Spermatogenic Failure 6 ISO RGD:1354275 D RGD:7240710 20230505 OMIM 12211200 USP26 ubiquitin specific peptidase 26 gene DOID:9005967 X-Linked Spermatogenic Failure 6 ISO RGD:1354275 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 6 PMID:34202084 12211215 HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:0060544 Hermansky-Pudlak syndrome 6 ISO RGD:1347712 D RGD:7240710 20180130 OMIM 12211215 HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:0060544 Hermansky-Pudlak syndrome 6 ISO RGD:1347712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 6 PMID:12548288|PMID:17041891|PMID:19843503|PMID:20158590|PMID:24033266|PMID:25741868|PMID:25949529|PMID:27225848|PMID:28492532|PMID:29345414|PMID:30369044|PMID:30387913|PMID:31064749|PMID:31898847|PMID:32581362|PMID:32725903|PMID:32830442|PMID:33878481|PMID:35054407 12211215 HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:11983 Prader-Willi syndrome ISO RGD:1347712 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:25741868|PMID:27593200|PMID:28492532|PMID:30387913 12211215 HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:2213 hemorrhagic disease ISO RGD:1347712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:28492532 12211215 HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:2223 platelet storage pool deficiency ISO RGD:1347712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Storage pool disease of platelets PMID:25741868|PMID:28492532|PMID:31064749 12211215 HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1347712 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:12548288|PMID:17041891|PMID:19843503|PMID:24033266|PMID:25741868|PMID:26575419|PMID:27225848|PMID:28492532|PMID:29345414|PMID:31064749|PMID:35054407 12211215 HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:630 genetic disease ISO RGD:1347712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12211220 DOCK6 dedicator of cytokinesis 6 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1315180 D RGD:9068941 20221222 RGD PMID:34742001|REF_RGD_ID:155791563 12211220 DOCK6 dedicator of cytokinesis 6 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1315180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12211220 DOCK6 dedicator of cytokinesis 6 gene DOID:0060227 Adams-Oliver syndrome ISO RGD:1315180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome PMID:21820096|PMID:24033266|PMID:25558065|PMID:25824905|PMID:28492532 12211220 DOCK6 dedicator of cytokinesis 6 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1315180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12211220 DOCK6 dedicator of cytokinesis 6 gene DOID:0111254 glutaric acidemia I ISO RGD:1315180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12211220 DOCK6 dedicator of cytokinesis 6 gene DOID:10534 stomach cancer disease_progression ISO RGD:1315180 D RGD:9068941 20221222 RGD PMID:32753649|REF_RGD_ID:155791565 12211220 DOCK6 dedicator of cytokinesis 6 gene DOID:10534 stomach cancer severity ISO RGD:1315180 D RGD:9068941 20221222 RGD PMID:29587866|REF_RGD_ID:155791564 12211220 DOCK6 dedicator of cytokinesis 6 gene DOID:1059 intellectual disability ISO RGD:1315180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12211220 DOCK6 dedicator of cytokinesis 6 gene DOID:10907 microcephaly ISO RGD:1315180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12211220 DOCK6 dedicator of cytokinesis 6 gene DOID:10908 hydrocephalus ISO RGD:1315180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 1 12211220 DOCK6 dedicator of cytokinesis 6 gene DOID:13810 familial hypercholesterolemia ISO RGD:1315180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:14756670|PMID:17094996|PMID:19538517|PMID:20045108|PMID:22698793|PMID:25741868 12211220 DOCK6 dedicator of cytokinesis 6 gene DOID:3413 alpha-mannosidosis ISO RGD:1315180 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12211220 DOCK6 dedicator of cytokinesis 6 gene DOID:5408 Paget's disease of bone ISO RGD:1315180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone Paget disease PMID:25741868|PMID:28492532 12211220 DOCK6 dedicator of cytokinesis 6 gene DOID:630 genetic disease ISO RGD:1315180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:21820096|PMID:23522784|PMID:25091416|PMID:25724810|PMID:25741868|PMID:25824905|PMID:26457590|PMID:28160419|PMID:28492532|PMID:28884918|PMID:29961505|PMID:30111349|PMID:30293987 12211220 DOCK6 dedicator of cytokinesis 6 gene DOID:9002962 Adams-Oliver Syndrome 2 ISO RGD:1315180 D RGD:7240710 20180130 OMIM 12211220 DOCK6 dedicator of cytokinesis 6 gene DOID:9002962 Adams-Oliver Syndrome 2 ISO RGD:1315180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 2 PMID:16199547|PMID:17159513|PMID:21820096|PMID:23522784|PMID:25091416|PMID:25558065|PMID:25741868|PMID:25824905|PMID:26457590|PMID:28135719|PMID:28492532|PMID:28884918|PMID:29924900|PMID:29961505|PMID:30111349|PMID:8849019 12211220 DOCK6 dedicator of cytokinesis 6 gene DOID:9004220 Adams-Oliver Syndrome 1 ISO RGD:1315180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 1 PMID:25741868|PMID:26457590|PMID:29924900 12211220 DOCK6 dedicator of cytokinesis 6 gene DOID:9005961 Familial Hypercholanemia 1 ISO RGD:1315180 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial 1 12211220 DOCK6 dedicator of cytokinesis 6 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:1315180 D RGD:9068941 20221222 RGD associated with stomach cancer; PMID:29587866|REF_RGD_ID:155791564 12211285 LSM6 LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1345160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 12211299 MAP1S microtubule associated protein 1S gene DOID:630 genetic disease ISO RGD:1317942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211317 CDC20 cell division cycle 20 gene DOID:0080600 COVID-19 ISO RGD:731833 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12211317 CDC20 cell division cycle 20 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12211317 CDC20 cell division cycle 20 gene DOID:630 genetic disease ISO RGD:731833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211317 CDC20 cell division cycle 20 gene DOID:684 hepatocellular carcinoma ISO RGD:731833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12211317 CDC20 cell division cycle 20 gene DOID:9007104 Oocyte/Zygote/Embryo Maturation Arrest 14 ISO RGD:731833 D RGD:7240710 20230505 OMIM 12211317 CDC20 cell division cycle 20 gene DOID:9007104 Oocyte/Zygote/Embryo Maturation Arrest 14 ISO RGD:731833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 14 PMID:32666501|PMID:33683667|PMID:33898437|PMID:34218387 12211364 RAB5C RAB5C, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1316083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12211383 GNAI2 G protein subunit alpha i2 gene DOID:0050117 disease by infectious agent ISO RGD:730993 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Recurrent infections 12211383 GNAI2 G protein subunit alpha i2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12211383 GNAI2 G protein subunit alpha i2 gene DOID:0050820 atrioventricular block ISO RGD:730993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17277016 12211383 GNAI2 G protein subunit alpha i2 gene DOID:0110887 inflammatory bowel disease 12 ISO RGD:730994 D RGD:9068941 20220825 MouseDO OMIM:612241 12211383 GNAI2 G protein subunit alpha i2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12211383 GNAI2 G protein subunit alpha i2 gene DOID:10763 hypertension ISO RGD:620243 D RGD:9068941 20200609 RGD PMID:27912212|REF_RGD_ID:13507308 12211383 GNAI2 G protein subunit alpha i2 gene DOID:10763 hypertension treatment ISO RGD:620243 D RGD:9068941 20200609 RGD PMID:15106810|REF_RGD_ID:13508592 12211383 GNAI2 G protein subunit alpha i2 gene DOID:2999 granulosa cell tumor ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulosa cell tumor, somatic PMID:2116665 12211383 GNAI2 G protein subunit alpha i2 gene DOID:305 carcinoma ISO RGD:730993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12211383 GNAI2 G protein subunit alpha i2 gene DOID:3946 pituitary-dependent Cushing's disease ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary dependent hypercortisolism PMID:7737262 12211383 GNAI2 G protein subunit alpha i2 gene DOID:630 genetic disease ISO RGD:730993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211383 GNAI2 G protein subunit alpha i2 gene DOID:9000064 Cardiac Arrhythmias treatment ISO RGD:620243 D RGD:9068941 20200609 RGD associated with Myocardial Reperfusion Injury PMID:11941407|REF_RGD_ID:13508594 12211383 GNAI2 G protein subunit alpha i2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:730993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12211383 GNAI2 G protein subunit alpha i2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12211383 GNAI2 G protein subunit alpha i2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12211383 GNAI2 G protein subunit alpha i2 gene DOID:9002210 Granulosa Cell Tumor of the Ovary ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulosa cell tumor of the ovary PMID:2116665 12211383 GNAI2 G protein subunit alpha i2 gene DOID:9002365 Ovarian Granulosa Cell Tumor ISO RGD:730993 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ovarian granulosa cell tumor PMID:2116665 12211383 GNAI2 G protein subunit alpha i2 gene DOID:9004009 Reperfusion Injury ISO RGD:620243 D RGD:9068941 20200609 RGD PMID:11367746|REF_RGD_ID:13513922 12211383 GNAI2 G protein subunit alpha i2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:730993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 12211383 GNAI2 G protein subunit alpha i2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia, somatic PMID:9637720 12211383 GNAI2 G protein subunit alpha i2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12211383 GNAI2 G protein subunit alpha i2 gene DOID:9005582 Adrenal Cortex Neoplasms ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortical tumor, somatic PMID:2116665 12211383 GNAI2 G protein subunit alpha i2 gene DOID:9007001 Bradycardia ISO RGD:730993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17277016 12211383 GNAI2 G protein subunit alpha i2 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:730993 D RGD:7240710 20180130 OMIM 12211383 GNAI2 G protein subunit alpha i2 gene DOID:9007661 Dwarfism ISO RGD:730993 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Short stature 12211383 GNAI2 G protein subunit alpha i2 gene DOID:9007671 Familial Isolated Pituitary Adenoma ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial isolated pituitary adenoma PMID:25741868 12211383 GNAI2 G protein subunit alpha i2 gene DOID:9008813 Thecoma ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thecoma, somatic PMID:2116665 12211383 GNAI2 G protein subunit alpha i2 gene DOID:9008939 Breast Neoplasms ISO RGD:730993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 12211383 GNAI2 G protein subunit alpha i2 gene DOID:9406 hypopituitarism ISO RGD:730993 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypopituitarism 12211383 GNAI2 G protein subunit alpha i2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:730993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:0050440 familial partial lipodystrophy ISO RGD:732407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19793595 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:732407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:15166380|PMID:17327441|PMID:17576681|PMID:19164855|PMID:21479466|PMID:25157968|PMID:25741868|PMID:28166811|PMID:28341696|PMID:28492532|PMID:9536098 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy ISO RGD:732407 D RGD:7240710 20180130 OMIM 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy ISO RGD:732407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypoinsulinemic hypoglycemia and body hemihypertrophy PMID:21979934|PMID:25741868|PMID:28166811|PMID:28492532 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:10283 prostate cancer ISO RGD:732407 D RGD:9068941 20200609 RGD DNA:SNP: :rs7254617 (human) PMID:22815832|REF_RGD_ID:13504675 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:10286 prostate carcinoma treatment ISO RGD:732407 D RGD:9068941 20200609 RGD PMID:24838891|REF_RGD_ID:13504674 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:10763 hypertension ISO RGD:2082 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex (rat) PMID:12902546|REF_RGD_ID:2313350 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:10132 D RGD:9068941 20220825 MouseDO OMIM:184700 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:732407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:732407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:1380 endometrial cancer severity ISO RGD:732407 D RGD:9068941 20200609 RGD DNA:snp:intron:c.287+993G>A (rs892119) (human) PMID:22146979|REF_RGD_ID:13432140 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:2340 craniosynostosis ISO RGD:732407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:732407 D RGD:9068941 20200609 RGD PMID:20638364|REF_RGD_ID:13504677 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:299 adenocarcinoma ISO RGD:732407 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:33129824 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:3069 malignant astrocytoma severity ISO RGD:732407 D RGD:9068941 20200609 RGD PMID:20167810|REF_RGD_ID:13674163 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:3070 high grade glioma ISO RGD:2082 D RGD:9068941 20200609 RGD PMID:19330838|REF_RGD_ID:2313297 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:3070 high grade glioma ISO RGD:732407 D RGD:9068941 20200609 RGD protein:increased expression:cytoplasm (human) PMID:19330838|REF_RGD_ID:2313297 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:326 ischemia ISO RGD:2082 D RGD:9068941 20200609 RGD PMID:19084003|REF_RGD_ID:2313316 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:21479466|PMID:25157968|PMID:28492532 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:4001 ovarian carcinoma ISO RGD:732407 D RGD:9068941 20200609 RGD DNA:amplification (human) PMID:16721043|REF_RGD_ID:2315603 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:630 genetic disease ISO RGD:732407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17327441|PMID:17576681|PMID:28341696|PMID:28492532|PMID:9536098 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:10132 D RGD:9068941 20210702 RGD protein:increased phosphorylation:liver (mouse) PMID:28100771|REF_RGD_ID:127285675 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:2082 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver cancer cell (rat) PMID:19309364|REF_RGD_ID:2313299 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732407 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:19491266|REF_RGD_ID:2315599 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732407 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:33129824 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:732407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:10132 D RGD:9068941 20200609 RGD PMID:21743498|REF_RGD_ID:13504676 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:10132 D RGD:9068941 20200609 RGD PMID:17210696|REF_RGD_ID:2315600 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:9007692 Insulin Resistance no_association ISO RGD:732407 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17327441|REF_RGD_ID:1601155 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2082 D RGD:9068941 20200609 RGD PMID:16418318|REF_RGD_ID:2313347 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:16094359|PMID:25157968 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19075277 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:9256 colorectal cancer onset ISO RGD:2082 D RGD:9068941 20200609 RGD protein:increased expression:colon (rat) PMID:11756242|REF_RGD_ID:2313394 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:9256 colorectal cancer onset ISO RGD:732407 D RGD:9068941 20200609 RGD protein:increased expression:colon (human) PMID:11756242|REF_RGD_ID:2313394 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:9269 maple syrup urine disease ISO RGD:732407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732407 D RGD:7240710 20180130 OMIM 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:15166380|PMID:17327441|PMID:17576681|PMID:19164855|PMID:25741868|PMID:28166811|PMID:28341696|PMID:28492532|PMID:9536098 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:15166380|PMID:17327441|PMID:17576681|PMID:19164855|PMID:21479466|PMID:25157968|PMID:25741868|PMID:28166811|PMID:28341696|PMID:28492532|PMID:9536098 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:9970 obesity ISO RGD:10132 D RGD:9068941 20200609 RGD PMID:17923673|REF_RGD_ID:2313406 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:9970 obesity ISO RGD:2082 D RGD:9068941 20200609 RGD protein:decreased expression:plantaris (rat) PMID:18508911|REF_RGD_ID:2313320 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:9970 obesity ISO RGD:732407 D RGD:9068941 20200609 RGD protein:decreased activity:rectus abdominis (human) PMID:12663464|REF_RGD_ID:2313409 12211396 AKT2 AKT serine/threonine kinase 2 gene DOID:9993 hypoglycemia ISO RGD:732407 D RGD:9068941 20200609 RGD PMID:21979934|REF_RGD_ID:7248543 12211429 BLTP3B bridge-like lipid transfer protein family member 3B gene DOID:630 genetic disease ISO RGD:1604632 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211429 BLTP3B bridge-like lipid transfer protein family member 3B gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1604632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12211461 PIK3R4 phosphoinositide-3-kinase regulatory subunit 4 gene DOID:0111947 immunodeficiency 21 ISO RGD:1323457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12211461 PIK3R4 phosphoinositide-3-kinase regulatory subunit 4 gene DOID:630 genetic disease ISO RGD:1323457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211461 PIK3R4 phosphoinositide-3-kinase regulatory subunit 4 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1323457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868|PMID:28492532 12211461 PIK3R4 phosphoinositide-3-kinase regulatory subunit 4 gene DOID:9270 alkaptonuria ISO RGD:1323457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12211487 TASP1 taspase 1 gene DOID:630 genetic disease ISO RGD:1318453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211487 TASP1 taspase 1 gene DOID:9000991 SULEIMAN-EL-HATTAB SYNDROME ISO RGD:1318453 D RGD:7240710 20201118 OMIM 12211487 TASP1 taspase 1 gene DOID:9000991 SULEIMAN-EL-HATTAB SYNDROME ISO RGD:1318453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Suleiman-El-Hattab syndrome PMID:25741868|PMID:29633245|PMID:31209944 12211487 TASP1 taspase 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:1318453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies PMID:25741868|PMID:29633245|PMID:31209944 12211487 TASP1 taspase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1318453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:31209944 12211517 FKBP4 FKBP prolyl isomerase 4 gene DOID:4674 androgen insensitivity syndrome ISO RGD:1551632 D RGD:9068941 20220825 MouseDO OMIM:300068 12211517 FKBP4 FKBP prolyl isomerase 4 gene DOID:630 genetic disease ISO RGD:733402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211517 FKBP4 FKBP prolyl isomerase 4 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:733402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12211531 CCNI cyclin I gene DOID:630 genetic disease ISO RGD:1319424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211531 CCNI cyclin I gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1319424 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12211548 NUDT9 nudix hydrolase 9 gene DOID:630 genetic disease ISO RGD:1352650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211548 NUDT9 nudix hydrolase 9 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1352650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12211560 SLC40A1 solute carrier family 40 member 1 gene DOID:0050711 aceruloplasminemia ISO RGD:733072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20655381 12211560 SLC40A1 solute carrier family 40 member 1 gene DOID:0111028 hemochromatosis type 4 ISO RGD:733072 D RGD:7240710 20180130 OMIM 12211560 SLC40A1 solute carrier family 40 member 1 gene DOID:0111028 hemochromatosis type 4 ISO RGD:733072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 4 PMID:11431687|PMID:11518736|PMID:12730114|PMID:12857562|PMID:12865285|PMID:12873829|PMID:14636642|PMID:15030991|PMID:15338274|PMID:15692071|PMID:15727899|PMID:15831700|PMID:15956209|PMID:16135412|PMID:16351644|PMID:16440176|PMID:16457665|PMID:16813613|PMID:16885049|PMID:17276706|PMID:17490902|PMID:17576681|PMID:17951290|PMID:17997113|PMID:18160816|PMID:19150361|PMID:19383972|PMID:20460119|PMID:21094556|PMID:21199650|PMID:21231898|PMID:21411349|PMID:22584997|PMID:23065513|PMID:23943237|PMID:24714983|PMID:25396007|PMID:25741868|PMID:26059880|PMID:27896572|PMID:28110135|PMID:28492532|PMID:30002125|PMID:30130274|PMID:31640930|PMID:32360131|PMID:9536098 12211560 SLC40A1 solute carrier family 40 member 1 gene DOID:0111029 hemochromatosis type 1 ISO RGD:733072 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 1 PMID:28492532 12211560 SLC40A1 solute carrier family 40 member 1 gene DOID:0111944 immunodeficiency 31B ISO RGD:733072 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 12211560 SLC40A1 solute carrier family 40 member 1 gene DOID:12849 autistic disorder ISO RGD:733072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15446388 12211560 SLC40A1 solute carrier family 40 member 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:20648054|PMID:23587214|PMID:28492532 12211560 SLC40A1 solute carrier family 40 member 1 gene DOID:2352 hemochromatosis ISO RGD:733072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary hemochromatosis 12211560 SLC40A1 solute carrier family 40 member 1 gene DOID:2355 anemia ISO RGD:733072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16434484 12211560 SLC40A1 solute carrier family 40 member 1 gene DOID:289 endometriosis ISO RGD:733072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12211560 SLC40A1 solute carrier family 40 member 1 gene DOID:630 genetic disease ISO RGD:733072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12211560 SLC40A1 solute carrier family 40 member 1 gene DOID:9001287 Ehlers-Danlos Syndrome Type 4 ISO RGD:733072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:20648054|PMID:23587214|PMID:28492532 12211560 SLC40A1 solute carrier family 40 member 1 gene DOID:9003603 Hemolysis ISO RGD:733072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25247420 12211560 SLC40A1 solute carrier family 40 member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12211560 SLC40A1 solute carrier family 40 member 1 gene DOID:9005725 Iron Overload ISO RGD:733072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17052926 12211560 SLC40A1 solute carrier family 40 member 1 gene DOID:9007188 Liver Neoplasms ISO RGD:733072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21785164 12211560 SLC40A1 solute carrier family 40 member 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21785164 12211575 BUD31 BUD31 homolog gene DOID:1395 schistosomiasis ISO RGD:621103 D RGD:9068941 20200609 RGD Protein:increased expression:serum (human) PMID:22686541|REF_RGD_ID:10058982 12211575 BUD31 BUD31 homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12211575 BUD31 BUD31 homolog gene DOID:630 genetic disease ISO RGD:1604400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211591 SS18 SS18 subunit of BAF chromatin remodeling complex gene DOID:1059 intellectual disability ISO RGD:1323627 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12211591 SS18 SS18 subunit of BAF chromatin remodeling complex gene DOID:5485 synovial sarcoma ISO RGD:1323627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27572315|PMID:9428816 12211591 SS18 SS18 subunit of BAF chromatin remodeling complex gene DOID:5485 synovial sarcoma ISO RGD:1323627 D RGD:9068941 20200609 RGD PMID:7951320|REF_RGD_ID:1599184 12211591 SS18 SS18 subunit of BAF chromatin remodeling complex gene DOID:630 genetic disease ISO RGD:1323627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211626 NAB2 NGFI-A binding protein 2 gene DOID:630 genetic disease ISO RGD:1323313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211626 NAB2 NGFI-A binding protein 2 gene DOID:9002958 Solitary Fibrous Tumors ISO RGD:1323313 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23313952|PMID:23313954 12211640 OGFRL1 opioid growth factor receptor like 1 gene DOID:630 genetic disease ISO RGD:1318300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211650 FLNC filamin C gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1318791 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy PMID:25741868|PMID:28492532|PMID:32112656 12211650 FLNC filamin C gene DOID:0050700 cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25351925|PMID:25741868|PMID:28492532|PMID:30418145|PMID:30919686 12211650 FLNC filamin C gene DOID:0050700 cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:25351925|PMID:25741868|PMID:26467025|PMID:26555887|PMID:26666891|PMID:27171548|PMID:27908349|PMID:28356264|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28781516|PMID:30086531|PMID:30418145|PMID:30847666|PMID:30919686|PMID:31245841|PMID:32112656 12211650 FLNC filamin C gene DOID:0050952 spastic ataxia ISO RGD:1318791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 12211650 FLNC filamin C gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1318791 D RGD:7240710 20180130 OMIM 12211650 FLNC filamin C gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1318791 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29030401|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32112656|PMID:32160020|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34935411|PMID:9536098 12211650 FLNC filamin C gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1318791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FILAMINOPATHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25640679|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28798025|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29551499|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32112656|PMID:32160020|PMID:32165824|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:32870709|PMID:32880476|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:9536098 12211650 FLNC filamin C gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1318791 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25640679|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28798025|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29551499|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:32870709|PMID:32880476|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:35026164|PMID:35463915|PMID:35470680|PMID:36104822|PMID:9536098 12211650 FLNC filamin C gene DOID:0080307 myofibrillar myopathy ISO RGD:1318791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy PMID:15929027|PMID:22961544|PMID:25741868|PMID:26472074|PMID:26969713|PMID:28492532|PMID:32022900 12211650 FLNC filamin C gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:26555887|PMID:28492532|PMID:31513939|PMID:32112656 12211650 FLNC filamin C gene DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 ISO RGD:1318791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F PMID:28492532 12211650 FLNC filamin C gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1318791 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:26555887|PMID:28492532|PMID:31513939|PMID:32112656 12211650 FLNC filamin C gene DOID:0110327 hypertrophic cardiomyopathy 26 ISO RGD:1318791 D RGD:7240710 20190315 OMIM 12211650 FLNC filamin C gene DOID:0110327 hypertrophic cardiomyopathy 26 ISO RGD:1318791 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 26 | ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 5 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32037394|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:32870709|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:35026164|PMID:35463915|PMID:35470680|PMID:35903116|PMID:36104822|PMID:9536098 12211650 FLNC filamin C gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1318791 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:27908349|PMID:28492532|PMID:32112656 12211650 FLNC filamin C gene DOID:0111190 distal muscular dystrophy 4 ISO RGD:1318791 D RGD:7240710 20180130 OMIM 12211650 FLNC filamin C gene DOID:0111190 distal muscular dystrophy 4 ISO RGD:1318791 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement | ClinVar Annotator: match by term: Myopathy, distal, 4 | ClinVar Annotator: match by term: WILLIAMS DISTAL MYOPATHY PMID:15824355|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:21620354|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:35026164|PMID:35463915|PMID:35470680|PMID:35903116|PMID:36104822|PMID:9536098 12211650 FLNC filamin C gene DOID:0111425 restrictive cardiomyopathy 1 ISO RGD:1318791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 PMID:28492532 12211650 FLNC filamin C gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:26467025|PMID:26555887|PMID:28492532|PMID:31513939|PMID:32112656 12211650 FLNC filamin C gene DOID:12930 dilated cardiomyopathy ISO RGD:1318791 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15929027|PMID:16199547|PMID:21520333|PMID:25741868|PMID:26436962|PMID:26666891|PMID:27908349|PMID:28356264|PMID:28492532|PMID:29858533|PMID:31245841|PMID:31627847|PMID:32112656|PMID:32603605 12211650 FLNC filamin C gene DOID:12930 dilated cardiomyopathy ISO RGD:1318791 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29517769|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32160020|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34935411|PMID:9536098 12211650 FLNC filamin C gene DOID:12930 dilated cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Cardiomyopathy, fatal infantile | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29517769|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32160020|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34935411|PMID:9536098 12211650 FLNC filamin C gene DOID:12930 dilated cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29517769|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32160020|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:9536098 12211650 FLNC filamin C gene DOID:12930 dilated cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29517769|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32160020|PMID:32165824|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:9536098 12211650 FLNC filamin C gene DOID:12930 dilated cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:35026164|PMID:35463915|PMID:35470680|PMID:36104822|PMID:9536098 12211650 FLNC filamin C gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1318791 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532 12211650 FLNC filamin C gene DOID:397 restrictive cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:25741868|PMID:28356264|PMID:28492532|PMID:30260051|PMID:30418145 12211650 FLNC filamin C gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12211650 FLNC filamin C gene DOID:630 genetic disease ISO RGD:1318791 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21520333|PMID:25741868|PMID:26436962|PMID:28356264|PMID:28492532|PMID:29858533|PMID:30067491 12211650 FLNC filamin C gene DOID:6419 tetralogy of Fallot ISO RGD:1318791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:27908349 12211650 FLNC filamin C gene DOID:9003163 Heart Block ISO RGD:1318791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868|PMID:27908349|PMID:28492532 12211650 FLNC filamin C gene DOID:9005532 Muscle Weakness ISO RGD:1318791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness 12211650 FLNC filamin C gene DOID:9007 sudden infant death syndrome ISO RGD:1318791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12211650 FLNC filamin C gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318791 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 12211703 OTOP3 otopetrin 3 gene DOID:630 genetic disease ISO RGD:1315404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211714 CRY2 cryptochrome circadian regulator 2 gene DOID:0050444 infantile Refsum disease ISO RGD:732507 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 12211714 CRY2 cryptochrome circadian regulator 2 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:732507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12211714 CRY2 cryptochrome circadian regulator 2 gene DOID:1059 intellectual disability ISO RGD:732507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12211714 CRY2 cryptochrome circadian regulator 2 gene DOID:630 genetic disease ISO RGD:732507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211714 CRY2 cryptochrome circadian regulator 2 gene DOID:8552 chronic myeloid leukemia ISO RGD:732507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16999817 12211714 CRY2 cryptochrome circadian regulator 2 gene DOID:905 Zellweger syndrome ISO RGD:732507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 12211734 GIPR gastric inhibitory polypeptide receptor gene DOID:10603 glucose intolerance ISO RGD:1557958 D RGD:9068941 20200609 RGD PMID:10611300|REF_RGD_ID:737713 12211734 GIPR gastric inhibitory polypeptide receptor gene DOID:1287 cardiovascular system disease ISO RGD:732777 D RGD:9068941 20200609 RGD DNA:missense mutation:p.E354Q (human) PMID:17624916|REF_RGD_ID:2312618 12211734 GIPR gastric inhibitory polypeptide receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:732777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 12211734 GIPR gastric inhibitory polypeptide receptor gene DOID:4195 hyperglycemia ISO RGD:1557958 D RGD:9068941 20200609 RGD PMID:10611300|REF_RGD_ID:737713 12211734 GIPR gastric inhibitory polypeptide receptor gene DOID:4195 hyperglycemia ISO RGD:2689 D RGD:9068941 20200609 RGD protein:decreased expression:pancreatic islet (rat) PMID:17505054|REF_RGD_ID:2312603 12211734 GIPR gastric inhibitory polypeptide receptor gene DOID:630 genetic disease ISO RGD:732777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211734 GIPR gastric inhibitory polypeptide receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:732777 D RGD:9068941 20200609 RGD PMID:19211686|REF_RGD_ID:2306734 12211734 GIPR gastric inhibitory polypeptide receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2689 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (rat) PMID:12789546|REF_RGD_ID:2312548 12211734 GIPR gastric inhibitory polypeptide receptor gene DOID:9007633 Body Weight ISO RGD:732777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344221 12211734 GIPR gastric inhibitory polypeptide receptor gene DOID:9351 diabetes mellitus ISO RGD:732777 D RGD:9068941 20200609 RGD human gene, mouse model PMID:15582721|REF_RGD_ID:2312617 12211734 GIPR gastric inhibitory polypeptide receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:2689 D RGD:9068941 20200609 RGD PMID:11334402|REF_RGD_ID:68929 12211734 GIPR gastric inhibitory polypeptide receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:732777 D RGD:9068941 20200609 RGD protein:decreased expression:pancreatic islet (human) PMID:19386626|REF_RGD_ID:2312454 12211734 GIPR gastric inhibitory polypeptide receptor gene DOID:9970 obesity ISO RGD:1557958 D RGD:9068941 20200609 RGD mRNA:splice variant:pancreatic islet (mouse) PMID:17971513|REF_RGD_ID:2312612 12211734 GIPR gastric inhibitory polypeptide receptor gene DOID:9970 obesity ISO RGD:732777 D RGD:9068941 20200609 RGD DNA:polymorphism:intron 1 C>A (rs2302382) (human) PMID:19254363|REF_RGD_ID:2312615 12211734 GIPR gastric inhibitory polypeptide receptor gene DOID:9970 obesity ISO RGD:732777 D RGD:9068941 20200609 RGD mRNA:reduced expression:fat tissue (human) PMID:17395281|REF_RGD_ID:2312616 12211734 GIPR gastric inhibitory polypeptide receptor gene DOID:9970 obesity susceptibility ISO RGD:1557958 D RGD:9068941 20200609 RGD PMID:12068290|REF_RGD_ID:737714 12211780 ATRNL1 attractin like 1 gene DOID:630 genetic disease ISO RGD:1607060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211820 MFAP2 microfibril associated protein 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1314413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12211820 MFAP2 microfibril associated protein 2 gene DOID:5119 ovarian cyst ISO RGD:1314413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12211820 MFAP2 microfibril associated protein 2 gene DOID:630 genetic disease ISO RGD:1314413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211836 CRTC3 CREB regulated transcription coactivator 3 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1604314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12211836 CRTC3 CREB regulated transcription coactivator 3 gene DOID:10283 prostate cancer ISO RGD:1604314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12211836 CRTC3 CREB regulated transcription coactivator 3 gene DOID:2717 Bloom syndrome ISO RGD:1604314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12211836 CRTC3 CREB regulated transcription coactivator 3 gene DOID:630 genetic disease ISO RGD:1604314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211836 CRTC3 CREB regulated transcription coactivator 3 gene DOID:9256 colorectal cancer ISO RGD:1604314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12211859 TBC1D2B TBC1 domain family member 2B gene DOID:2717 Bloom syndrome ISO RGD:1604393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12211859 TBC1D2B TBC1 domain family member 2B gene DOID:630 genetic disease ISO RGD:1604393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211859 TBC1D2B TBC1 domain family member 2B gene DOID:9002993 NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH ISO RGD:1604393 D RGD:7240710 20210818 OMIM 12211859 TBC1D2B TBC1 domain family member 2B gene DOID:9002993 NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH ISO RGD:1604393 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and gingival overgrowth PMID:25741868|PMID:32623794 12211859 TBC1D2B TBC1 domain family member 2B gene DOID:9256 colorectal cancer ISO RGD:1604393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12211880 KCNIP1 potassium voltage-gated channel interacting protein 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:732298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy 12211880 KCNIP1 potassium voltage-gated channel interacting protein 1 gene DOID:630 genetic disease ISO RGD:732298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211880 KCNIP1 potassium voltage-gated channel interacting protein 1 gene DOID:9008282 Diastolic Hypertension, Resistance to ISO RGD:732298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension, diastolic, resistance to PMID:15057310|PMID:16155733 12211896 POU2F1 POU class 2 homeobox 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1344654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12211896 POU2F1 POU class 2 homeobox 1 gene DOID:630 genetic disease ISO RGD:1344654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211896 POU2F1 POU class 2 homeobox 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12211928 ZFYVE1 zinc finger FYVE-type containing 1 gene DOID:1059 intellectual disability ISO RGD:1317194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12211928 ZFYVE1 zinc finger FYVE-type containing 1 gene DOID:630 genetic disease ISO RGD:1317194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211957 GPR65 G protein-coupled receptor 65 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:1323495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 12211957 GPR65 G protein-coupled receptor 65 gene DOID:630 genetic disease ISO RGD:1323495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211957 GPR65 G protein-coupled receptor 65 gene DOID:8577 ulcerative colitis ISO RGD:1323495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30616622 12211968 PRR14 proline rich 14 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1604599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12211968 PRR14 proline rich 14 gene DOID:630 genetic disease ISO RGD:1604599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211984 RGS18 regulator of G protein signaling 18 gene DOID:1540 parathyroid carcinoma ISO RGD:1315187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12211984 RGS18 regulator of G protein signaling 18 gene DOID:630 genetic disease ISO RGD:1315187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12211984 RGS18 regulator of G protein signaling 18 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1315187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 12211984 RGS18 regulator of G protein signaling 18 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12211993 FAAP100 FA core complex associated protein 100 gene DOID:630 genetic disease ISO RGD:1604593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212010 LOC609026 C1q and TNF related 9 gene DOID:1826 epilepsy ISO RGD:1605504 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12212010 LOC609026 C1q and TNF related 9 gene DOID:5419 schizophrenia ISO RGD:1605504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12212010 LOC609026 C1q and TNF related 9 gene DOID:630 genetic disease ISO RGD:1605504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212018 XYLB xylulokinase gene DOID:0050451 Brugada syndrome ISO RGD:1316534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 12212018 XYLB xylulokinase gene DOID:630 genetic disease ISO RGD:1316534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212018 XYLB xylulokinase gene DOID:9001436 Immunodeficiency 68 ISO RGD:1316534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532 12212018 XYLB xylulokinase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1316534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12212018 XYLB xylulokinase gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1316534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 12212044 ASTE1 asteroid homolog 1 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1606299 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 12212044 ASTE1 asteroid homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:1606299 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 12212044 ASTE1 asteroid homolog 1 gene DOID:630 genetic disease ISO RGD:1606299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212044 ASTE1 asteroid homolog 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1606299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12212044 ASTE1 asteroid homolog 1 gene DOID:9270 alkaptonuria ISO RGD:1606299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12212067 GPA33 glycoprotein A33 gene DOID:1540 parathyroid carcinoma ISO RGD:1315484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12212067 GPA33 glycoprotein A33 gene DOID:630 genetic disease ISO RGD:1315484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212067 GPA33 glycoprotein A33 gene DOID:9007432 Latent Tuberculosis ISO RGD:1315484 D RGD:9068941 20210212 RGD mRNA, protein:decreased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human) PMID:29602771|REF_RGD_ID:41404732 12212067 GPA33 glycoprotein A33 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12212084 TAS2R38 taste 2 receptor member 38 gene DOID:0080690 RASopathy ISO RGD:1346793 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12212084 TAS2R38 taste 2 receptor member 38 gene DOID:1574 alcohol use disorder ISO RGD:1346793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17250611 12212084 TAS2R38 taste 2 receptor member 38 gene DOID:630 genetic disease ISO RGD:1346793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212084 TAS2R38 taste 2 receptor member 38 gene DOID:9004935 Thiourea Tasting ISO RGD:1346793 D RGD:7240710 20180130 OMIM 12212084 TAS2R38 taste 2 receptor member 38 gene DOID:9004935 Thiourea Tasting ISO RGD:1346793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phenylthiocarbamide tasting PMID:12595690|PMID:28492532 12212084 TAS2R38 taste 2 receptor member 38 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1346793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 12212095 C1QTNF12 C1q and TNF related 12 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12212095 C1QTNF12 C1q and TNF related 12 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603827 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12212095 C1QTNF12 C1q and TNF related 12 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1603827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12212095 C1QTNF12 C1q and TNF related 12 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1603827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12212095 C1QTNF12 C1q and TNF related 12 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1603827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12212095 C1QTNF12 C1q and TNF related 12 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12212095 C1QTNF12 C1q and TNF related 12 gene DOID:0111934 immunodeficiency 38 ISO RGD:1603827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12212095 C1QTNF12 C1q and TNF related 12 gene DOID:0111935 immunodeficiency 16 ISO RGD:1603827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12212095 C1QTNF12 C1q and TNF related 12 gene DOID:630 genetic disease ISO RGD:1603827 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212095 C1QTNF12 C1q and TNF related 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12212095 C1QTNF12 C1q and TNF related 12 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1603827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12212095 C1QTNF12 C1q and TNF related 12 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12212112 PRDM2 PR/SET domain 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1348506 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12212112 PRDM2 PR/SET domain 2 gene DOID:11054 urinary bladder cancer ISO RGD:1348506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 12212112 PRDM2 PR/SET domain 2 gene DOID:630 genetic disease ISO RGD:1348506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212112 PRDM2 PR/SET domain 2 gene DOID:670 amphetamine abuse ISO RGD:1348506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12212112 PRDM2 PR/SET domain 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1348506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17103461 12212112 PRDM2 PR/SET domain 2 gene DOID:9006836 Contracture ISO RGD:1348506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 12212130 TIGD5 tigger transposable element derived 5 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1323107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12212130 TIGD5 tigger transposable element derived 5 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1323107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12212130 TIGD5 tigger transposable element derived 5 gene DOID:4621 holoprosencephaly ISO RGD:1323107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12212130 TIGD5 tigger transposable element derived 5 gene DOID:630 genetic disease ISO RGD:1323107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212138 GFY golgi associated olfactory signaling regulator gene DOID:630 genetic disease ISO RGD:7818825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212146 H2BC8 H2B clustered histone 8 gene DOID:630 genetic disease ISO RGD:1312785 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212152 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:0060786 hypomyelinating leukodystrophy ISO RGD:731553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy PMID:11704758|PMID:15136673|PMID:17646634|PMID:21307862|PMID:25089094|PMID:25741868|PMID:28492532|PMID:30755392 12212152 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:731553 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:11704758|PMID:12325082|PMID:12499492|PMID:12707859|PMID:14566705|PMID:14572143|PMID:14694060|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15136689|PMID:15507143|PMID:15670229|PMID:15723074|PMID:15776425|PMID:16041584|PMID:16864840|PMID:17439913|PMID:17646634|PMID:18005052|PMID:18263758|PMID:18266750|PMID:18294360|PMID:18519871|PMID:18678442|PMID:18813718|PMID:18845387|PMID:19023445|PMID:19158808|PMID:19170749|PMID:19531691|PMID:19625339|PMID:19909266|PMID:20016818|PMID:20301435|PMID:20826436|PMID:20958979|PMID:20975056|PMID:21307862|PMID:21560189|PMID:22073122|PMID:22238342|PMID:22430157|PMID:22699478|PMID:22952606|PMID:23065789|PMID:24033266|PMID:24482476|PMID:24938145|PMID:25089094|PMID:25230711|PMID:25326635|PMID:25457085|PMID:25525159|PMID:25681447|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26112719|PMID:26467025|PMID:26506339|PMID:26626314|PMID:26671108|PMID:26901872|PMID:27651498|PMID:27665184|PMID:27779215|PMID:28306143|PMID:28334938|PMID:28492532|PMID:28914269|PMID:28939701|PMID:28953922|PMID:29933199|PMID:29995139|PMID:30315562|PMID:30755392|PMID:31418856|PMID:32293553|PMID:33432707|PMID:34745209 12212152 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:731553 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12212152 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:731553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12212152 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:0111546 Currarino syndrome ISO RGD:731553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12212152 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:10579 leukodystrophy ISO RGD:731553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:11704758|PMID:15136673|PMID:17646634|PMID:21307862|PMID:25089094|PMID:25741868|PMID:28492532|PMID:30755392 12212152 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:3910 lung adenocarcinoma ISO RGD:731553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24366584 12212152 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:543 dystonia ISO RGD:731553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:11704758|PMID:15136673|PMID:17646634|PMID:21307862|PMID:25089094|PMID:25741868|PMID:28492532|PMID:30755392 12212152 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:630 genetic disease ISO RGD:731553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11704758|PMID:12707859|PMID:14993275|PMID:22699478|PMID:25089094|PMID:25326635|PMID:25741868|PMID:28492532|PMID:31418856 12212152 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:9002704 Leukoencephalopathies ISO RGD:731553 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CACH syndrome | ClinVar Annotator: match by term: CACH/VWM syndrome | ClinVar Annotator: match by term: Childhood ataxia with diffuse central nervous system hypomyelination | ClinVar Annotator: match by term: Leukoencephalopathy | ClinVar Annotator: match by term: Myelinosis centralis diffusa PMID:11704758|PMID:12325082|PMID:12499492|PMID:12707859|PMID:14566705|PMID:14572143|PMID:14694060|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15136689|PMID:15507143|PMID:15670229|PMID:15723074|PMID:15776425|PMID:16041584|PMID:16864840|PMID:17439913|PMID:17646634|PMID:18005052|PMID:18263758|PMID:18266750|PMID:18294360|PMID:18519871|PMID:18678442|PMID:18813718|PMID:18845387|PMID:19023445|PMID:19158808|PMID:19170749|PMID:19531691|PMID:19625339|PMID:19909266|PMID:20016818|PMID:20301435|PMID:20826436|PMID:20958979|PMID:20975056|PMID:21307862|PMID:21560189|PMID:22073122|PMID:22238342|PMID:22430157|PMID:22699478|PMID:22952606|PMID:23065789|PMID:24033266|PMID:24482476|PMID:24938145|PMID:25089094|PMID:25230711|PMID:25326635|PMID:25457085|PMID:25525159|PMID:25681447|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26112719|PMID:26467025|PMID:26506339|PMID:26626314|PMID:26671108|PMID:26901872|PMID:27651498|PMID:27665184|PMID:27779215|PMID:28306143|PMID:28334938|PMID:28492532|PMID:28914269|PMID:28939701|PMID:28953922|PMID:29933199|PMID:29995139|PMID:30315562|PMID:30755392|PMID:31418856|PMID:32293553|PMID:33432707|PMID:34745209 12212152 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:9004484 Sepsis ISO RGD:708380 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:gastrocnemius PMID:12376332|REF_RGD_ID:11041880 12212152 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:9005314 Leukoencephalopathy with Vanishing White Matter 5 ISO RGD:731553 D RGD:7240710 20230505 OMIM 12212152 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:9005314 Leukoencephalopathy with Vanishing White Matter 5 ISO RGD:731553 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 5 PMID:11704758|PMID:12325082|PMID:12499492|PMID:12707859|PMID:14694060|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15136689|PMID:15136690|PMID:15507143|PMID:15723074|PMID:15776425|PMID:16041584|PMID:17439913|PMID:17646634|PMID:18005052|PMID:18266750|PMID:18294360|PMID:18678442|PMID:18813718|PMID:18845387|PMID:19023445|PMID:19170749|PMID:19531691|PMID:19625339|PMID:20301435|PMID:20958979|PMID:20975056|PMID:21307862|PMID:21484434|PMID:21560189|PMID:22238342|PMID:22699478|PMID:22952606|PMID:23065789|PMID:24033266|PMID:24482476|PMID:24938145|PMID:25089094|PMID:25525159|PMID:25681447|PMID:25741868|PMID:25761052|PMID:26112719|PMID:26467025|PMID:26506339|PMID:26626314|PMID:28492532|PMID:28914269|PMID:33432707 12212152 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:9005348 Leukoencephalopathy with Vanishing White Matter 1 ISO RGD:731553 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1 PMID:11704758|PMID:12325082|PMID:12499492|PMID:12707859|PMID:14566705|PMID:14572143|PMID:14694060|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15136689|PMID:15507143|PMID:15670229|PMID:15723074|PMID:15776425|PMID:16041584|PMID:16864840|PMID:17439913|PMID:17646634|PMID:18005052|PMID:18263758|PMID:18266750|PMID:18294360|PMID:18519871|PMID:18678442|PMID:18813718|PMID:18845387|PMID:19023445|PMID:19158808|PMID:19170749|PMID:19531691|PMID:19625339|PMID:19909266|PMID:20016818|PMID:20301435|PMID:20826436|PMID:20958979|PMID:20975056|PMID:21307862|PMID:21560189|PMID:22073122|PMID:22238342|PMID:22430157|PMID:22699478|PMID:22952606|PMID:23065789|PMID:24033266|PMID:24482476|PMID:24938145|PMID:25089094|PMID:25230711|PMID:25326635|PMID:25457085|PMID:25525159|PMID:25681447|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26112719|PMID:26467025|PMID:26506339|PMID:26626314|PMID:26671108|PMID:26901872|PMID:27651498|PMID:27665184|PMID:27779215|PMID:28306143|PMID:28334938|PMID:28492532|PMID:28914269|PMID:28939701|PMID:28953922|PMID:29933199|PMID:29995139|PMID:30315562|PMID:30755392|PMID:31418856|PMID:32293553|PMID:33432707|PMID:34745209 12212152 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:9008824 Sarcopenia ISO RGD:708380 D RGD:9068941 20200609 RGD PMID:15187001|REF_RGD_ID:10395315 12212210 LOC106557492 adhesion G-protein coupled receptor D2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1350453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12212230 LOC106559648 zinc finger protein OZF-like gene DOID:13938 amenorrhea ISO RGD:1606957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12212230 LOC106559648 zinc finger protein OZF-like gene DOID:630 genetic disease ISO RGD:1606957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212231 ABHD2 abhydrolase domain containing 2, acylglycerol lipase gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1322825 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12212231 ABHD2 abhydrolase domain containing 2, acylglycerol lipase gene DOID:13938 amenorrhea ISO RGD:1322825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12212231 ABHD2 abhydrolase domain containing 2, acylglycerol lipase gene DOID:2717 Bloom syndrome ISO RGD:1322825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12212231 ABHD2 abhydrolase domain containing 2, acylglycerol lipase gene DOID:630 genetic disease ISO RGD:1322825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212231 ABHD2 abhydrolase domain containing 2, acylglycerol lipase gene DOID:9256 colorectal cancer ISO RGD:1322825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12212248 PREP prolyl endopeptidase gene DOID:10914 amnestic disorder ISO RGD:732518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8691432 12212248 PREP prolyl endopeptidase gene DOID:1596 depressive disorder ISO RGD:620841 D RGD:9068941 20211224 RGD protein:altered activity:frontal cortex, striatum, hypothalamus (rat) PMID:17415460|REF_RGD_ID:1626457 12212248 PREP prolyl endopeptidase gene DOID:4543 retrograde amnesia ISO RGD:732518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18318186 12212248 PREP prolyl endopeptidase gene DOID:630 genetic disease ISO RGD:732518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212248 PREP prolyl endopeptidase gene DOID:9000217 Stomach Neoplasms ISO RGD:732518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12212248 PREP prolyl endopeptidase gene DOID:9000918 Disease Progression ISO RGD:732518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12212267 GJB4 gap junction protein beta 4 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:1352157 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.F137L (human) PMID:11017804|REF_RGD_ID:1598971 12212267 GJB4 gap junction protein beta 4 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:1352157 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.C86S (c.256T>A) (human) PMID:23037955|REF_RGD_ID:12437072 12212267 GJB4 gap junction protein beta 4 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:1352157 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:multiple PMID:12648223|REF_RGD_ID:1598970 12212267 GJB4 gap junction protein beta 4 gene DOID:0080248 erythrokeratodermia variabilis et progressiva 2 ISO RGD:1352157 D RGD:7240710 20190315 OMIM 12212267 GJB4 gap junction protein beta 4 gene DOID:0080248 erythrokeratodermia variabilis et progressiva 2 ISO RGD:1352157 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 2 PMID:11017804|PMID:11933201|PMID:12648223|PMID:148984|PMID:25741868|PMID:28492532|PMID:6437964 12212267 GJB4 gap junction protein beta 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1352157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12212267 GJB4 gap junction protein beta 4 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1352157 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:17259707|PMID:25333454|PMID:25741868|PMID:28492532 12212267 GJB4 gap junction protein beta 4 gene DOID:0110564 autosomal dominant nonsyndromic deafness 3A ISO RGD:1352157 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3a PMID:17259707|PMID:25333454|PMID:25741868|PMID:28492532 12212267 GJB4 gap junction protein beta 4 gene DOID:0111195 erythrokeratodermia variabilis et progressiva 1 ISO RGD:1352157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 PMID:25741868 12212267 GJB4 gap junction protein beta 4 gene DOID:4603 epidermolytic hyperkeratosis ISO RGD:1352157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16297190 12212267 GJB4 gap junction protein beta 4 gene DOID:630 genetic disease ISO RGD:1352157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12212277 TRAPPC10 trafficking protein particle complex subunit 10 gene DOID:0060341 agnathia-otocephaly complex ISO RGD:1621362 D RGD:9068941 20220825 MouseDO OMIM:202650 12212277 TRAPPC10 trafficking protein particle complex subunit 10 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1322626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 12212277 TRAPPC10 trafficking protein particle complex subunit 10 gene DOID:0110266 cataract 9 multiple types ISO RGD:1322626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12212277 TRAPPC10 trafficking protein particle complex subunit 10 gene DOID:1059 intellectual disability ISO RGD:1322626 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:30167849|PMID:35298461 12212277 TRAPPC10 trafficking protein particle complex subunit 10 gene DOID:12583 velocardiofacial syndrome ISO RGD:1621362 D RGD:9068941 20220825 MouseDO OMIM:192430 12212277 TRAPPC10 trafficking protein particle complex subunit 10 gene DOID:12849 autistic disorder ISO RGD:1322626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12212277 TRAPPC10 trafficking protein particle complex subunit 10 gene DOID:37 skin disease ISO RGD:1322626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12212277 TRAPPC10 trafficking protein particle complex subunit 10 gene DOID:630 genetic disease ISO RGD:1322626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212277 TRAPPC10 trafficking protein particle complex subunit 10 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1322626 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12212277 TRAPPC10 trafficking protein particle complex subunit 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12212277 TRAPPC10 trafficking protein particle complex subunit 10 gene DOID:9007964 Arsenic Poisoning ISO RGD:1322626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12212277 TRAPPC10 trafficking protein particle complex subunit 10 gene DOID:9263 homocystinuria ISO RGD:1322626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12212277 TRAPPC10 trafficking protein particle complex subunit 10 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12212308 ZNF710 zinc finger protein 710 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1606391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12212308 ZNF710 zinc finger protein 710 gene DOID:2717 Bloom syndrome ISO RGD:1606391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12212308 ZNF710 zinc finger protein 710 gene DOID:630 genetic disease ISO RGD:1606391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212308 ZNF710 zinc finger protein 710 gene DOID:9256 colorectal cancer ISO RGD:1606391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12212320 MPP3 MAGUK p55 scaffold protein 3 gene DOID:630 genetic disease ISO RGD:1343815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212351 AMMECR1 AMMECR nuclear protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12212351 AMMECR1 AMMECR nuclear protein 1 gene DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ISO RGD:1347096 D RGD:7240710 20190315 OMIM 12212351 AMMECR1 AMMECR nuclear protein 1 gene DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ISO RGD:1347096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis PMID:21681106|PMID:25741868|PMID:27811305|PMID:28089922|PMID:28492532|PMID:29174631|PMID:29193635 12212351 AMMECR1 AMMECR nuclear protein 1 gene DOID:12849 autistic disorder ISO RGD:1347096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12212351 AMMECR1 AMMECR nuclear protein 1 gene DOID:5419 schizophrenia ISO RGD:1347096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12212351 AMMECR1 AMMECR nuclear protein 1 gene DOID:630 genetic disease ISO RGD:1347096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212351 AMMECR1 AMMECR nuclear protein 1 gene DOID:9007661 Dwarfism ISO RGD:1347096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12212361 VGLL1 vestigial like family member 1 gene DOID:0060022 CD40 ligand deficiency ISO RGD:1352400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12212361 VGLL1 vestigial like family member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12212361 VGLL1 vestigial like family member 1 gene DOID:0060825 Christianson syndrome ISO RGD:1352400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12212361 VGLL1 vestigial like family member 1 gene DOID:12849 autistic disorder ISO RGD:1352400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12212361 VGLL1 vestigial like family member 1 gene DOID:630 genetic disease ISO RGD:1352400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212361 VGLL1 vestigial like family member 1 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1352400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12212361 VGLL1 vestigial like family member 1 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1352400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12212361 VGLL1 vestigial like family member 1 gene DOID:9007823 Chromosome Xq26.3 Duplication Syndrome ISO RGD:1352400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome PMID:25712922|PMID:26935837 12212367 MTMR1 myotubularin related protein 1 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:1315259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 12212367 MTMR1 myotubularin related protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1315259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12212367 MTMR1 myotubularin related protein 1 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:1315259 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 12212367 MTMR1 myotubularin related protein 1 gene DOID:12849 autistic disorder ISO RGD:1315259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12212367 MTMR1 myotubularin related protein 1 gene DOID:630 genetic disease ISO RGD:1315259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212398 RNF41 ring finger protein 41 gene DOID:630 genetic disease ISO RGD:1319962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212417 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:10598 D RGD:9068941 20220825 MouseDO OMIM:178500 12212417 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:733116 D RGD:9068941 20220825 RGD mRNA,protein:increased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 12212417 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:0050866 oral squamous cell carcinoma ISO RGD:733116 D RGD:9068941 20220826 RGD mRNA, protein:increased expression:mouth (human) PMID:34111459|REF_RGD_ID:153344573 12212417 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:733116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12212417 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:234 colon adenocarcinoma ISO RGD:733116 D RGD:9068941 20220826 RGD protein:increased expression:colon (human) PMID:22419013|REF_RGD_ID:153344572 12212417 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:3068 glioblastoma ISO RGD:733116 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23582323 12212417 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:733116 D RGD:9068941 20220818 RGD protein:increased expression:lung (human) PMID:25375657|REF_RGD_ID:11074609 12212417 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:418 systemic scleroderma ISO RGD:10598 D RGD:9068941 20220825 MouseDO OMIM:181750 12212417 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:4451 renal carcinoma ISO RGD:2628 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:9405228|REF_RGD_ID:2293758 12212417 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:630 genetic disease ISO RGD:733116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212417 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733116 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12212417 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:684 hepatocellular carcinoma ISO RGD:733116 D RGD:9068941 20220819 RGD mRNA:increased expression:liver (human) PMID:30086463|PMID:32048611|REF_RGD_ID:153344517|REF_RGD_ID:153344521 12212417 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:9004009 Reperfusion Injury ISO RGD:2628 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:15121240|REF_RGD_ID:2293779 12212417 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:9005172 Lung Neoplasms ISO RGD:733116 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12212417 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:9006618 Liver Metastasis ISO RGD:733116 D RGD:9068941 20220825 RGD human cells in mouse model PMID:30114390|REF_RGD_ID:153344554 12212417 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:9009121 lung metastasis ISO RGD:733116 D RGD:9068941 20220825 RGD human cells in mouse model PMID:30326930|REF_RGD_ID:153344557 12212417 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:9256 colorectal cancer ISO RGD:733116 D RGD:9068941 20220825 RGD MRNA, protein:increased expression:colon (human) PMID:35034245|REF_RGD_ID:153344553 12212417 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:9256 colorectal cancer ISO RGD:733116 D RGD:9068941 20220825 RGD mRNA:increased expression:colon (human) PMID:30114390|REF_RGD_ID:153344554 12212417 FOSL2 FOS like 2, AP-1 transcription factor subunit gene DOID:9261 nasopharynx carcinoma ISO RGD:733116 D RGD:9068941 20220825 RGD mRNA:increased expression:nasopharynx (human) PMID:30326930|REF_RGD_ID:153344557 12212439 DISP3 dispatched RND transporter family member 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1603018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12212439 DISP3 dispatched RND transporter family member 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603018 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12212439 DISP3 dispatched RND transporter family member 3 gene DOID:630 genetic disease ISO RGD:1603018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212439 DISP3 dispatched RND transporter family member 3 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1603018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 12212467 BRICD5 BRICHOS domain containing 5 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1602822 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 12212467 BRICD5 BRICHOS domain containing 5 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1602822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 12212467 BRICD5 BRICHOS domain containing 5 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1602822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12212467 BRICD5 BRICHOS domain containing 5 gene DOID:1826 epilepsy ISO RGD:1602822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12212467 BRICD5 BRICHOS domain containing 5 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1602822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12212467 BRICD5 BRICHOS domain containing 5 gene DOID:2871 endometrial carcinoma ISO RGD:1602822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 12212467 BRICD5 BRICHOS domain containing 5 gene DOID:630 genetic disease ISO RGD:1602822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212467 BRICD5 BRICHOS domain containing 5 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1602822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12212476 RFLNB refilin B gene DOID:13580 cholestasis ISO RGD:1601917 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12212483 GRHPR glyoxylate and hydroxypyruvate reductase gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1318860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12212483 GRHPR glyoxylate and hydroxypyruvate reductase gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1318860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis PMID:25741868|PMID:28492532 12212483 GRHPR glyoxylate and hydroxypyruvate reductase gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1318860 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12212483 GRHPR glyoxylate and hydroxypyruvate reductase gene DOID:0080600 COVID-19 ISO RGD:1318860 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12212483 GRHPR glyoxylate and hydroxypyruvate reductase gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1318860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12212483 GRHPR glyoxylate and hydroxypyruvate reductase gene DOID:0111671 primary hyperoxaluria type 2 ISO RGD:1318860 D RGD:7240710 20180130 OMIM 12212483 GRHPR glyoxylate and hydroxypyruvate reductase gene DOID:0111671 primary hyperoxaluria type 2 ISO RGD:1318860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:10484776|PMID:11030416|PMID:11477177|PMID:12185464|PMID:14635115|PMID:14987413|PMID:15327387|PMID:16199547|PMID:16306119|PMID:17510093|PMID:17576681|PMID:18560364|PMID:19296982|PMID:20301742|PMID:24033266|PMID:24116921|PMID:25410531|PMID:25525159|PMID:25629080|PMID:25644115|PMID:25741868|PMID:26484032|PMID:28492532|PMID:28553045|PMID:28569194|PMID:28893421|PMID:31685312|PMID:9536098 12212483 GRHPR glyoxylate and hydroxypyruvate reductase gene DOID:12679 nephrocalcinosis ISO RGD:1318860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:10484776|PMID:11030416|PMID:12185464|PMID:14635115|PMID:15327387|PMID:17576681|PMID:18560364|PMID:24033266|PMID:24116921|PMID:25644115|PMID:25741868|PMID:28492532|PMID:28893421|PMID:9536098 12212483 GRHPR glyoxylate and hydroxypyruvate reductase gene DOID:2977 primary hyperoxaluria ISO RGD:1318860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:11030416|PMID:14635115|PMID:24116921|PMID:25629080|PMID:25644115|PMID:25741868|PMID:28492532|PMID:31685312 12212483 GRHPR glyoxylate and hydroxypyruvate reductase gene DOID:630 genetic disease ISO RGD:1318860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12212483 GRHPR glyoxylate and hydroxypyruvate reductase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12212483 GRHPR glyoxylate and hydroxypyruvate reductase gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12212483 GRHPR glyoxylate and hydroxypyruvate reductase gene DOID:9870 galactosemia ISO RGD:1318860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12212496 AMER2 APC membrane recruitment protein 2 gene DOID:630 genetic disease ISO RGD:1604720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212506 SLC17A4 solute carrier family 17 member 4 gene DOID:630 genetic disease ISO RGD:1314119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212523 MIR195 microRNA mir-195 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1343846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12212523 MIR195 microRNA mir-195 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1343846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 12212523 MIR195 microRNA mir-195 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1343846 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12212523 MIR195 microRNA mir-195 gene DOID:10487 Hirschsprung's disease ISO RGD:1343846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25007945 12212523 MIR195 microRNA mir-195 gene DOID:12177 common variable immunodeficiency ISO RGD:1343846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12212523 MIR195 microRNA mir-195 gene DOID:1574 alcohol use disorder onset ISO RGD:2325346 D RGD:9068941 20200716 RGD PMID:32135570|REF_RGD_ID:35673317 12212523 MIR195 microRNA mir-195 gene DOID:224 transient cerebral ischemia severity ISO RGD:2325346 D RGD:9068941 20210716 RGD PMID:32272873|REF_RGD_ID:45073134 12212523 MIR195 microRNA mir-195 gene DOID:2729 dyskeratosis congenita ISO RGD:1343846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12212523 MIR195 microRNA mir-195 gene DOID:3393 coronary artery disease ISO RGD:1343846 D RGD:9068941 20230202 RGD miRNA:decreased expression:blood plasma (human) PMID:25728840|REF_RGD_ID:11056497 12212523 MIR195 microRNA mir-195 gene DOID:6000 congestive heart failure ISO RGD:1343846 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12212523 MIR195 microRNA mir-195 gene DOID:684 hepatocellular carcinoma ISO RGD:1343846 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver (human) PMID:25607636|REF_RGD_ID:15042896 12212523 MIR195 microRNA mir-195 gene DOID:684 hepatocellular carcinoma ISO RGD:1608301 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver (human) PMID:25607636|REF_RGD_ID:15042896 12212523 MIR195 microRNA mir-195 gene DOID:684 hepatocellular carcinoma ISO RGD:2325346 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver (human) PMID:25607636|REF_RGD_ID:15042896 12212523 MIR195 microRNA mir-195 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1343846 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver (mouse) PMID:25607636|REF_RGD_ID:15042896 12212523 MIR195 microRNA mir-195 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1608301 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver (mouse) PMID:25607636|REF_RGD_ID:15042896 12212523 MIR195 microRNA mir-195 gene DOID:684 hepatocellular carcinoma severity ISO RGD:2325346 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver (mouse) PMID:25607636|REF_RGD_ID:15042896 12212523 MIR195 microRNA mir-195 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1343846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12212523 MIR195 microRNA mir-195 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478399 12212542 TSHB thyroid stimulating hormone subunit beta gene DOID:0050328 congenital hypothyroidism ISO RGD:732605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:25741868 12212542 TSHB thyroid stimulating hormone subunit beta gene DOID:0070123 congenital nongoitrous hypothyroidism 4 ISO RGD:732605 D RGD:7240710 20180130 OMIM 12212542 TSHB thyroid stimulating hormone subunit beta gene DOID:0070123 congenital nongoitrous hypothyroidism 4 ISO RGD:732605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pituitary cretinism PMID:11297590|PMID:11549695|PMID:11788671|PMID:12364478|PMID:15292359|PMID:15297803|PMID:1971148|PMID:22606512|PMID:24423284|PMID:25741868|PMID:25950606|PMID:26416826|PMID:27362444|PMID:27387040|PMID:2792087|PMID:28492532|PMID:31166470|PMID:8636437|PMID:9589689 12212542 TSHB thyroid stimulating hormone subunit beta gene DOID:0080690 RASopathy ISO RGD:732605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12212542 TSHB thyroid stimulating hormone subunit beta gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:732605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 12212542 TSHB thyroid stimulating hormone subunit beta gene DOID:12361 Graves' disease ISO RGD:732605 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 12212542 TSHB thyroid stimulating hormone subunit beta gene DOID:1459 hypothyroidism ISO RGD:732605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TSH deficiency PMID:11297590|PMID:11549695|PMID:11788671|PMID:12364478|PMID:15292359|PMID:15297803|PMID:1971148|PMID:22606512|PMID:24423284|PMID:25741868|PMID:25950606|PMID:26416826|PMID:27362444|PMID:27387040|PMID:2792087|PMID:28492532|PMID:31166470|PMID:8636437|PMID:9589689 12212542 TSHB thyroid stimulating hormone subunit beta gene DOID:2945 severe acute respiratory syndrome ISO RGD:732605 D RGD:9068941 20200609 RGD protein:decreased expression:adenohypophysis (human) PMID:20651845|REF_RGD_ID:28711759 12212542 TSHB thyroid stimulating hormone subunit beta gene DOID:3312 bipolar disorder ISO RGD:732605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6455462 12212542 TSHB thyroid stimulating hormone subunit beta gene DOID:4195 hyperglycemia ISO RGD:732605 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:7956715|REF_RGD_ID:1624160 12212542 TSHB thyroid stimulating hormone subunit beta gene DOID:630 genetic disease ISO RGD:732605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212542 TSHB thyroid stimulating hormone subunit beta gene DOID:9000366 Isolated Thyrotropin Deficiency ISO RGD:732605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thyrotropin deficiency, isolated PMID:11297590|PMID:11549695|PMID:11788671|PMID:12364478|PMID:15292359|PMID:15297803|PMID:1971148|PMID:22606512|PMID:24423284|PMID:25741868|PMID:25950606|PMID:26416826|PMID:27362444|PMID:27387040|PMID:2792087|PMID:28492532|PMID:31166470|PMID:8636437|PMID:9589689 12212542 TSHB thyroid stimulating hormone subunit beta gene DOID:9002395 Hypothermia ISO RGD:732605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 12212542 TSHB thyroid stimulating hormone subunit beta gene DOID:9006462 Coma ISO RGD:732605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24729111 12212555 CCDC171 coiled-coil domain containing 171 gene DOID:10283 prostate cancer ISO RGD:1348779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12212555 CCDC171 coiled-coil domain containing 171 gene DOID:630 genetic disease ISO RGD:1348779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212600 SMU1 SMU1 DNA replication regulator and spliceosomal factor gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1343755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12212600 SMU1 SMU1 DNA replication regulator and spliceosomal factor gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1343755 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12212600 SMU1 SMU1 DNA replication regulator and spliceosomal factor gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1343755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12212600 SMU1 SMU1 DNA replication regulator and spliceosomal factor gene DOID:630 genetic disease ISO RGD:1343755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212600 SMU1 SMU1 DNA replication regulator and spliceosomal factor gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12212600 SMU1 SMU1 DNA replication regulator and spliceosomal factor gene DOID:9870 galactosemia ISO RGD:1343755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12212620 IQUB IQ motif and ubiquitin domain containing gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12212620 IQUB IQ motif and ubiquitin domain containing gene DOID:630 genetic disease ISO RGD:1606694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212649 GDAP2 ganglioside induced differentiation associated protein 2 gene DOID:0111616 autosomal recessive spinocerebellar ataxia 27 ISO RGD:1314445 D RGD:7240710 20190424 OMIM 12212649 GDAP2 ganglioside induced differentiation associated protein 2 gene DOID:0111616 autosomal recessive spinocerebellar ataxia 27 ISO RGD:1314445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 27 PMID:25741868|PMID:30084953 12212649 GDAP2 ganglioside induced differentiation associated protein 2 gene DOID:630 genetic disease ISO RGD:1314445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212676 TIMM21 translocase of inner mitochondrial membrane 21 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1351951 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12212676 TIMM21 translocase of inner mitochondrial membrane 21 gene DOID:630 genetic disease ISO RGD:1351951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212676 TIMM21 translocase of inner mitochondrial membrane 21 gene DOID:6420 pulmonary valve stenosis ISO RGD:1351951 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12212676 TIMM21 translocase of inner mitochondrial membrane 21 gene DOID:8445 intestinal volvulus ISO RGD:1351951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12212676 TIMM21 translocase of inner mitochondrial membrane 21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12212676 TIMM21 translocase of inner mitochondrial membrane 21 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1351951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12212686 RPL15 ribosomal protein L15 gene DOID:0111882 Diamond-Blackfan anemia 12 ISO RGD:736821 D RGD:7240710 20180130 OMIM 12212686 RPL15 ribosomal protein L15 gene DOID:0111882 Diamond-Blackfan anemia 12 ISO RGD:736821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 PMID:23812780|PMID:25741868|PMID:28492532 12212686 RPL15 ribosomal protein L15 gene DOID:630 genetic disease ISO RGD:736821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12212686 RPL15 ribosomal protein L15 gene DOID:9000217 Stomach Neoplasms ISO RGD:736821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12212686 RPL15 ribosomal protein L15 gene DOID:9000918 Disease Progression ISO RGD:736821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12212697 RBP2 retinol binding protein 2 gene DOID:630 genetic disease ISO RGD:734415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212705 CASS4 Cas scaffold protein family member 4 gene DOID:10652 Alzheimer's disease ISO RGD:1321668 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:30320580|PMID:33589840 12212705 CASS4 Cas scaffold protein family member 4 gene DOID:630 genetic disease ISO RGD:1321668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212716 CRYZL1 crystallin zeta like 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1320993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12212716 CRYZL1 crystallin zeta like 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1320993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12212716 CRYZL1 crystallin zeta like 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1320993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12212716 CRYZL1 crystallin zeta like 1 gene DOID:630 genetic disease ISO RGD:1320993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212716 CRYZL1 crystallin zeta like 1 gene DOID:9005698 ZTTK Syndrome ISO RGD:1320993 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 12212743 LDB2 LIM domain binding 2 gene DOID:630 genetic disease ISO RGD:1317395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212772 CCSAP centriole, cilia and spindle associated protein gene DOID:1540 parathyroid carcinoma ISO RGD:1602440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12212772 CCSAP centriole, cilia and spindle associated protein gene DOID:630 genetic disease ISO RGD:1602440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212772 CCSAP centriole, cilia and spindle associated protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12212783 TTC12 tetratricopeptide repeat domain 12 gene DOID:0111857 primary ciliary dyskinesia 45 ISO RGD:1347109 D RGD:7240710 20200318 OMIM 12212783 TTC12 tetratricopeptide repeat domain 12 gene DOID:0111857 primary ciliary dyskinesia 45 ISO RGD:1347109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 45 PMID:1978331|PMID:25741868 12212783 TTC12 tetratricopeptide repeat domain 12 gene DOID:1059 intellectual disability ISO RGD:1347109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12212783 TTC12 tetratricopeptide repeat domain 12 gene DOID:630 genetic disease ISO RGD:1347109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212783 TTC12 tetratricopeptide repeat domain 12 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1347109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12212817 DCAF6 DDB1 and CUL4 associated factor 6 gene DOID:0111942 immunodeficiency 25 ISO RGD:1350946 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 12212817 DCAF6 DDB1 and CUL4 associated factor 6 gene DOID:12336 male infertility ISO RGD:1350946 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Male infertility 12212817 DCAF6 DDB1 and CUL4 associated factor 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1350946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12212817 DCAF6 DDB1 and CUL4 associated factor 6 gene DOID:630 genetic disease ISO RGD:1350946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12212817 DCAF6 DDB1 and CUL4 associated factor 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 12212817 DCAF6 DDB1 and CUL4 associated factor 6 gene DOID:9005047 Hypercalciuria, Absorptive, 2 ISO RGD:1350946 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial idiopathic hypercalciuria PMID:11932268|PMID:17576681|PMID:25741868|PMID:26787776|PMID:28492532|PMID:9536098 12212817 DCAF6 DDB1 and CUL4 associated factor 6 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1350946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 12212817 DCAF6 DDB1 and CUL4 associated factor 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12212878 VTI1B vesicle transport through interaction with t-SNAREs 1B gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1352901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 12212878 VTI1B vesicle transport through interaction with t-SNAREs 1B gene DOID:630 genetic disease ISO RGD:1352901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212891 HEATR4 HEAT repeat containing 4 gene DOID:0080600 COVID-19 ISO RGD:1602622 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12212891 HEATR4 HEAT repeat containing 4 gene DOID:1059 intellectual disability ISO RGD:1602622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild 12212891 HEATR4 HEAT repeat containing 4 gene DOID:630 genetic disease ISO RGD:1602622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212891 HEATR4 HEAT repeat containing 4 gene DOID:9005603 Muscle Hypotonia ISO RGD:1602622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia 12212931 GPR45 G protein-coupled receptor 45 gene DOID:630 genetic disease ISO RGD:1314767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12212936 PTP4A1 protein tyrosine phosphatase 4A1 gene DOID:630 genetic disease ISO RGD:1352872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212951 HTR1E 5-hydroxytryptamine receptor 1E gene DOID:630 genetic disease ISO RGD:1350220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212962 HOXA4 homeobox A4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12212962 HOXA4 homeobox A4 gene DOID:630 genetic disease ISO RGD:736245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212968 ERMP1 endoplasmic reticulum metallopeptidase 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1348332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12212968 ERMP1 endoplasmic reticulum metallopeptidase 1 gene DOID:630 genetic disease ISO RGD:1348332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12212990 CC2D2B coiled-coil and C2 domain containing 2B gene DOID:0060027 agammaglobulinemia 4 ISO RGD:1321297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:28492532 12212990 CC2D2B coiled-coil and C2 domain containing 2B gene DOID:630 genetic disease ISO RGD:1321297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213052 DRAXIN dorsal inhibitory axon guidance protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1605526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12213052 DRAXIN dorsal inhibitory axon guidance protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1605526 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12213052 DRAXIN dorsal inhibitory axon guidance protein gene DOID:0080600 COVID-19 ISO RGD:1605526 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12213052 DRAXIN dorsal inhibitory axon guidance protein gene DOID:14330 Parkinson's disease ISO RGD:1605526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 12213052 DRAXIN dorsal inhibitory axon guidance protein gene DOID:630 genetic disease ISO RGD:1605526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213052 DRAXIN dorsal inhibitory axon guidance protein gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1605526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 12213063 TFAP2A transcription factor AP-2 alpha gene DOID:0050567 orofacial cleft ISO RGD:1321068 D RGD:9068941 20220825 MouseDO OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892 12213063 TFAP2A transcription factor AP-2 alpha gene DOID:0050691 branchiooculofacial syndrome ISO RGD:1321067 D RGD:7240710 20180725 OMIM 12213063 TFAP2A transcription factor AP-2 alpha gene DOID:0050691 branchiooculofacial syndrome ISO RGD:1321067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Branchio-Oculo-Facial Syndrome | ClinVar Annotator: match by term: Branchiooculofacial syndrome PMID:10767004|PMID:18423521|PMID:19685247|PMID:19764023|PMID:20358615|PMID:20461149|PMID:21204207|PMID:21539471|PMID:21728810|PMID:22276601|PMID:22963965|PMID:23578821|PMID:25325184|PMID:25590586|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31829210|PMID:7747785 12213063 TFAP2A transcription factor AP-2 alpha gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:1321067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 13 with adult I phenotype PMID:28492532 12213063 TFAP2A transcription factor AP-2 alpha gene DOID:10376 amblyopia ISO RGD:1321067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amblyopia PMID:25741868 12213063 TFAP2A transcription factor AP-2 alpha gene DOID:10629 microphthalmia ISO RGD:1321067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmos PMID:25741868 12213063 TFAP2A transcription factor AP-2 alpha gene DOID:11364 lens subluxation ISO RGD:1321067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lens subluxation PMID:25741868 12213063 TFAP2A transcription factor AP-2 alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:1321067 D RGD:9068941 20200609 RGD protein:increased expression:myocardium PMID:14752511|REF_RGD_ID:1578494 12213063 TFAP2A transcription factor AP-2 alpha gene DOID:14702 branchiootorenal syndrome ISO RGD:1321067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melnick-Fraser syndrome PMID:30311386 12213063 TFAP2A transcription factor AP-2 alpha gene DOID:557 kidney disease ISO RGD:1321067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19685247 12213063 TFAP2A transcription factor AP-2 alpha gene DOID:630 genetic disease ISO RGD:1321067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19764023|PMID:20358615|PMID:20461149|PMID:21204207|PMID:22191992|PMID:22276601|PMID:22963965|PMID:23578821|PMID:25325184|PMID:25590586|PMID:25741868|PMID:27607113|PMID:28492532|PMID:31829210|PMID:7747785 12213063 TFAP2A transcription factor AP-2 alpha gene DOID:9001575 IRIS COLOBOMA ISO RGD:1321067 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Iris coloboma PMID:25741868 12213063 TFAP2A transcription factor AP-2 alpha gene DOID:9003133 Hypertelorism ISO RGD:1321067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 12213063 TFAP2A transcription factor AP-2 alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12213063 TFAP2A transcription factor AP-2 alpha gene DOID:9008296 Eye Abnormalities ISO RGD:1321067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19685247 12213063 TFAP2A transcription factor AP-2 alpha gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1321067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14534133|PMID:19685247 12213063 TFAP2A transcription factor AP-2 alpha gene DOID:9008939 Breast Neoplasms ISO RGD:1321067 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16204029 12213063 TFAP2A transcription factor AP-2 alpha gene DOID:9650 pathologic nystagmus ISO RGD:1321067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:25741868 12213063 TFAP2A transcription factor AP-2 alpha gene DOID:9840 esotropia ISO RGD:1321067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esotropia PMID:25741868 12213094 ACOT12 acyl-CoA thioesterase 12 gene DOID:3571 liver cancer ISO RGD:619752 D RGD:9068941 20200609 RGD PMID:2566591|REF_RGD_ID:13831129 12213094 ACOT12 acyl-CoA thioesterase 12 gene DOID:630 genetic disease ISO RGD:736721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213094 ACOT12 acyl-CoA thioesterase 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12213113 FAF2 Fas associated factor family member 2 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1604379 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12213113 FAF2 Fas associated factor family member 2 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1604379 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12213113 FAF2 Fas associated factor family member 2 gene DOID:630 genetic disease ISO RGD:1604379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213113 FAF2 Fas associated factor family member 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604379 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12213113 FAF2 Fas associated factor family member 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1604379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12213113 FAF2 Fas associated factor family member 2 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1604379 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 12213136 LOC489328 olfactory receptor 8D2 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1354280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12213136 LOC489328 olfactory receptor 8D2 gene DOID:5419 schizophrenia ISO RGD:1354280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12213136 LOC489328 olfactory receptor 8D2 gene DOID:630 genetic disease ISO RGD:1354280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213136 LOC489328 olfactory receptor 8D2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1354280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12213136 LOC489328 olfactory receptor 8D2 gene DOID:9007661 Dwarfism ISO RGD:1354280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12213137 FBXL18 F-box and leucine rich repeat protein 18 gene DOID:630 genetic disease ISO RGD:1352891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213137 FBXL18 F-box and leucine rich repeat protein 18 gene DOID:684 hepatocellular carcinoma ISO RGD:1352891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12213145 ECI1 enoyl-CoA delta isomerase 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1352961 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 12213145 ECI1 enoyl-CoA delta isomerase 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1352961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 12213145 ECI1 enoyl-CoA delta isomerase 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1352961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12213145 ECI1 enoyl-CoA delta isomerase 1 gene DOID:1826 epilepsy ISO RGD:1352961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12213145 ECI1 enoyl-CoA delta isomerase 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1352961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12213145 ECI1 enoyl-CoA delta isomerase 1 gene DOID:2871 endometrial carcinoma ISO RGD:1352961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 12213145 ECI1 enoyl-CoA delta isomerase 1 gene DOID:630 genetic disease ISO RGD:1352961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213156 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1349412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12213156 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:0111940 immunodeficiency 42 ISO RGD:1349412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12213156 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1349412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12213156 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1349412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12213156 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:0112376 muscular dystrophy-dystroglycanopathy type B15 ISO RGD:1349412 D RGD:7240710 20200902 OMIM 12213156 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:0112376 muscular dystrophy-dystroglycanopathy type B15 ISO RGD:1349412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 PMID:31469168 12213156 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:1540 parathyroid carcinoma ISO RGD:1349412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12213156 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:423 myopathy ISO RGD:1349412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 12213156 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:5812 MHC class II deficiency ISO RGD:1349412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12213156 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:630 genetic disease ISO RGD:1349412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12213156 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:9006227 Congenital Disorder of Glycosylation Type 1O ISO RGD:1349412 D RGD:7240710 20180130 OMIM 12213156 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:9006227 Congenital Disorder of Glycosylation Type 1O ISO RGD:1349412 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1O | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DPM3-RELATED PMID:19576565|PMID:25741868|PMID:28492532|PMID:28803818|PMID:29246662|PMID:30931530|PMID:31266720|PMID:31469168 12213156 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12213162 SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:0050574 L-2-hydroxyglutaric aciduria ISO RGD:1346295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria PMID:15385440 12213162 SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:0060587 Noonan syndrome 9 ISO RGD:1346295 D RGD:7240710 20180130 OMIM 12213162 SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:0060587 Noonan syndrome 9 ISO RGD:1346295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome 9 PMID:16199547|PMID:17143282|PMID:17143285|PMID:17576681|PMID:17586837|PMID:18854871|PMID:19352411|PMID:19953625|PMID:21533187|PMID:24033266|PMID:25640679|PMID:25741868|PMID:25795793|PMID:26173643|PMID:26686981|PMID:27942422|PMID:28166811|PMID:28492532|PMID:29493581|PMID:29696744|PMID:30417923|PMID:30455982|PMID:30707178|PMID:31573083|PMID:32037394|PMID:32788663|PMID:33452774|PMID:9536098 12213162 SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:0080690 RASopathy ISO RGD:1346295 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: RASopathy PMID:25741868|PMID:25795793|PMID:26173643|PMID:27942422|PMID:28492532|PMID:29493581|PMID:30417923|PMID:30707178|PMID:32788663|PMID:33452774 12213162 SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:3490 Noonan syndrome ISO RGD:1346295 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:25741868|PMID:25795793|PMID:26173643|PMID:27942422|PMID:28492532|PMID:29493581|PMID:30417923|PMID:30707178|PMID:32788663|PMID:33452774 12213162 SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:630 genetic disease ISO RGD:1346295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17143282|PMID:17143285|PMID:17576681|PMID:17586837|PMID:18854871|PMID:19352411|PMID:19953625|PMID:25741868|PMID:26686981|PMID:28492532|PMID:29696744|PMID:9536098 12213162 SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1346295 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12213162 SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:9008582 Developmental Disease ISO RGD:1346295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12213188 GABRQ gamma-aminobutyric acid type A receptor subunit theta gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12213188 GABRQ gamma-aminobutyric acid type A receptor subunit theta gene DOID:12849 autistic disorder ISO RGD:731793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12213188 GABRQ gamma-aminobutyric acid type A receptor subunit theta gene DOID:630 genetic disease ISO RGD:731793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213201 USE1 unconventional SNARE in the ER 1 gene DOID:630 genetic disease ISO RGD:1603634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213214 SLC10A7 solute carrier family 10 member 7 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1351041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 12213214 SLC10A7 solute carrier family 10 member 7 gene DOID:13580 cholestasis ISO RGD:1351041 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12213214 SLC10A7 solute carrier family 10 member 7 gene DOID:225 syndrome ISO RGD:1316406 D RGD:9068941 20220825 MouseDO 12213214 SLC10A7 solute carrier family 10 member 7 gene DOID:630 genetic disease ISO RGD:1351041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213214 SLC10A7 solute carrier family 10 member 7 gene DOID:9000420 Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis ISO RGD:1351041 D RGD:7240710 20190424 OMIM 12213214 SLC10A7 solute carrier family 10 member 7 gene DOID:9000420 Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis ISO RGD:1351041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis PMID:25741868|PMID:29878199|PMID:30082715 12213214 SLC10A7 solute carrier family 10 member 7 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351041 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12213231 TAS2R39 taste 2 receptor member 39 gene DOID:630 genetic disease ISO RGD:1350058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213234 GPR52 G protein-coupled receptor 52 gene DOID:1540 parathyroid carcinoma ISO RGD:1353875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12213234 GPR52 G protein-coupled receptor 52 gene DOID:3755 antithrombin III deficiency ISO RGD:1353875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 12213234 GPR52 G protein-coupled receptor 52 gene DOID:630 genetic disease ISO RGD:1353875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213234 GPR52 G protein-coupled receptor 52 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1353875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 12213234 GPR52 G protein-coupled receptor 52 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12213240 HAPLN4 hyaluronan and proteoglycan link protein 4 gene DOID:630 genetic disease ISO RGD:1348635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213240 HAPLN4 hyaluronan and proteoglycan link protein 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1348635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12213251 H2AC21 H2A clustered histone 21 gene DOID:1540 parathyroid carcinoma ISO RGD:1350646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12213251 H2AC21 H2A clustered histone 21 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12213256 PROK1 prokineticin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736057 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12213256 PROK1 prokineticin 1 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:736057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 12213256 PROK1 prokineticin 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:736057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12213256 PROK1 prokineticin 1 gene DOID:12849 autistic disorder ISO RGD:736057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12213256 PROK1 prokineticin 1 gene DOID:630 genetic disease ISO RGD:736057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213267 LOC102152531 synaptonemal complex protein 3-like gene DOID:0070176 spermatogenic failure 4 ISO RGD:733070 D RGD:7240710 20180130 OMIM 12213267 LOC102152531 synaptonemal complex protein 3-like gene DOID:0070176 spermatogenic failure 4 ISO RGD:733070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 4 PMID:14643120|PMID:19110213|PMID:28492532|PMID:28801929|PMID:29713536 12213267 LOC102152531 synaptonemal complex protein 3-like gene DOID:0111910 spermatogenic failure ISO RGD:733070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic Failure 12213267 LOC102152531 synaptonemal complex protein 3-like gene DOID:12336 male infertility ISO RGD:733070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 12213267 LOC102152531 synaptonemal complex protein 3-like gene DOID:14227 azoospermia ISO RGD:11368 D RGD:9068941 20221103 MouseDO OMIM:102530 | OMIM:108420 | OMIM:243060 | OMIM:258150 | OMIM:270960 | OMIM:309120 | OMIM:415000 | OMIM:606766 | OMIM:612997 | OMIM:613957 | OMIM:613958 | OMIM:614822 | OMIM:615081 | OMIM:615413 | OMIM:615841 | OMIM:615842 12213267 LOC102152531 synaptonemal complex protein 3-like gene DOID:14227 azoospermia ISO RGD:733070 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:14643120 12213267 LOC102152531 synaptonemal complex protein 3-like gene DOID:630 genetic disease ISO RGD:733070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213267 LOC102152531 synaptonemal complex protein 3-like gene DOID:9007479 Habitual Abortions ISO RGD:733070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19110213 12213327 OR13S1P olfactory receptor family 13 subfamily S member 1, pseudogene gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12213327 OR13S1P olfactory receptor family 13 subfamily S member 1, pseudogene gene DOID:12849 autistic disorder ISO RGD:1344200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12213327 OR13S1P olfactory receptor family 13 subfamily S member 1, pseudogene gene DOID:630 genetic disease ISO RGD:1344200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213361 CLPS colipase gene DOID:0050553 JMP syndrome ISO RGD:731525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12213361 CLPS colipase gene DOID:630 genetic disease ISO RGD:731525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213361 CLPS colipase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2363 D RGD:9068941 20200609 RGD PMID:19577003|REF_RGD_ID:2314624 12213361 CLPS colipase gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:731525 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.R109C (human) PMID:16189801|REF_RGD_ID:2314627 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:0050553 JMP syndrome ISO RGD:735341 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:12162767|REF_RGD_ID:8662376 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:0050866 oral squamous cell carcinoma ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:10873097|REF_RGD_ID:8662371 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:15817070|REF_RGD_ID:8662374 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:0050866 oral squamous cell carcinoma no_association ISO RGD:735341 D RGD:9068941 20200609 RGD DNA:polymorphism: :98C>A(human) PMID:18251939|REF_RGD_ID:8662395 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:735341 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:149A>G(human) PMID:10873097|REF_RGD_ID:8662371 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:69328 D RGD:9068941 20200609 RGD PMID:23857431|REF_RGD_ID:10043364 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:12628841|REF_RGD_ID:2289659 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:0060224 atrial fibrillation ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:0060224 atrial fibrillation ISO RGD:735341 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:atriim PMID:16043935|REF_RGD_ID:8662360 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:16462758|REF_RGD_ID:8662844 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:20369488|REF_RGD_ID:8547768 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:10283 prostate cancer ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:18237448|REF_RGD_ID:2289639 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:1070 primary open angle glaucoma no_association ISO RGD:735341 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.S31R(human) PMID:15807891|REF_RGD_ID:8661806 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:735341 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.S31R(human) PMID:14738489|REF_RGD_ID:8661807 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:1073 renal hypertension ISO RGD:69328 D RGD:9068941 20200609 RGD protein:decreased expression:vascular associated smooth muscle cell PMID:17439406|REF_RGD_ID:2289672 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:10964 cholesteatoma of middle ear ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression: PMID:23324739|REF_RGD_ID:8661795 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:10966 lipoid nephrosis treatment ISO RGD:69328 D RGD:9068941 20200609 RGD PMID:24119646|REF_RGD_ID:10043363 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:11054 urinary bladder cancer ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18640142 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:11335 sarcoidosis ISO RGD:735341 D RGD:9068941 20200609 RGD mRNA:increased expression:skin: PMID:12885947|REF_RGD_ID:8662819 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:11555 Fuchs' endothelial dystrophy ISO RGD:732911 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cornea,nucleus: PMID:22956607|REF_RGD_ID:8661808 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:11555 Fuchs' endothelial dystrophy ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:22956607|REF_RGD_ID:8661808 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:12236 primary biliary cholangitis ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:epithelial cell: PMID:18456456|REF_RGD_ID:8662434 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:12689 acoustic neuroma ISO RGD:735341 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:myelinated nerve: PMID:20600642|REF_RGD_ID:8661792 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:1749 squamous cell carcinoma ISO RGD:735341 D RGD:9068941 20200609 RGD associated with Varicose Ulcer;protein:increased expression:skin: PMID:11028856|REF_RGD_ID:8662856 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:1749 squamous cell carcinoma disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:9655223|REF_RGD_ID:8662356 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:1790 malignant mesothelioma ISO RGD:735341 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:11453316 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:1909 melanoma ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:22311377|REF_RGD_ID:8662421 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:1909 melanoma ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:9194578|REF_RGD_ID:8662817 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:2615 papilloma ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:10430900|REF_RGD_ID:8662432 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:2615 papilloma ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151359 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:2615 papilloma ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:11684723|REF_RGD_ID:8662351 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:2671 transitional cell carcinoma ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151359|PMID:18640142 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:2876 laryngeal squamous cell carcinoma ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:15646812|REF_RGD_ID:8662837 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:305 carcinoma ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:10430900|REF_RGD_ID:8662432 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:3070 high grade glioma severity ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:18791688|REF_RGD_ID:13702128 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:3070 high grade glioma severity ISO RGD:735341 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:20844987|REF_RGD_ID:13702125 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:3070 high grade glioma treatment ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:9144534|REF_RGD_ID:13702129 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735341 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35303175 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:3114 serous cystadenocarcinoma disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:16012716|REF_RGD_ID:8662305 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:3179 inverted papilloma ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:19863319|PMID:21608063|REF_RGD_ID:8662353|REF_RGD_ID:8662357 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:17671118|REF_RGD_ID:8662851 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15375580 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:735341 D RGD:9068941 20210910 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:4448 macular degeneration ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:20054800|REF_RGD_ID:10043353 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:4905 pancreatic carcinoma ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:9252195|REF_RGD_ID:8662427 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:5517 stomach carcinoma disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:11745255|REF_RGD_ID:8662389 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:557 kidney disease ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16968891 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:5759 sebaceous gland neoplasm ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:12354803|REF_RGD_ID:8662839 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:pituitary gland: PMID:18981426|REF_RGD_ID:8662821 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:630 genetic disease ISO RGD:735341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:6432 pulmonary hypertension treatment ISO RGD:69328 D RGD:9068941 20200609 RGD PMID:24412385|REF_RGD_ID:10043361 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:6432 pulmonary hypertension treatment ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:24334871|REF_RGD_ID:10043360 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:684 hepatocellular carcinoma ISO RGD:732911 D RGD:9068941 20220825 MouseDO OMIM:114550 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:7910 maxillary sinus squamous cell carcinoma ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:15040115|REF_RGD_ID:8662355 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:8472 localized scleroderma ISO RGD:732911 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:skin: PMID:15803328|REF_RGD_ID:8662838 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:8577 ulcerative colitis disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:15743319|REF_RGD_ID:8662406 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:8893 psoriasis ISO RGD:735341 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:skin: PMID:7636313|REF_RGD_ID:8662825 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:69328 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:17714589|REF_RGD_ID:2289666 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:735341 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:17714589|REF_RGD_ID:2289666 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:epithelial cell: PMID:9546362|REF_RGD_ID:8662446 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9000040 Hypertrophy ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27652271 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9000081 Lymphatic Metastasis ISO RGD:735341 D RGD:9068941 20200609 RGD associated with Eyelid Neoplasms; PMID:19628749|REF_RGD_ID:8661799 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9000081 Lymphatic Metastasis ISO RGD:735341 D RGD:9068941 20200609 RGD associated with Oral Squamous Cell Carcinoma; PMID:15817070|REF_RGD_ID:8662374 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9000117 Esophageal Neoplasms disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:11903577|REF_RGD_ID:8662379 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9000217 Stomach Neoplasms ISO RGD:69328 D RGD:9068941 20200609 RGD protein:increased expression:stomach PMID:23890812|REF_RGD_ID:13792775 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9000217 Stomach Neoplasms ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14647439 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9000332 Hypovolemia ISO RGD:69328 D RGD:9068941 20200609 RGD PMID:10451498|REF_RGD_ID:10043817 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9000403 Animal Mammary Neoplasms onset ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:11103935|REF_RGD_ID:8662404 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9000965 Neoplasm Metastasis ISO RGD:735341 D RGD:9068941 20200609 RGD associated with Melanoma; PMID:9194578|REF_RGD_ID:8662817 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9000998 Brain Injuries ISO RGD:69328 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:9914434|REF_RGD_ID:8662346 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:69328 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:8640740|REF_RGD_ID:8662309 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9002085 Congenital Cholesteatoma ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression: PMID:23324739|REF_RGD_ID:8661795 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9002165 Diabetic Nephropathies ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27652271 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9002221 Hyperplasia ISO RGD:69328 D RGD:9068941 20200609 RGD protein:increased expression PMID:23890812|REF_RGD_ID:13792775 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9002234 Pituitary Neoplasms ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:18981426|REF_RGD_ID:8662821 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9002245 Intestinal Neoplasms ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:11212250|REF_RGD_ID:8662377 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9002245 Intestinal Neoplasms ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11535846|PMID:12468628 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9002304 Prostatic Neoplasms ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12727815|PMID:15598783 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9002644 Premature Aging ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:23207764|REF_RGD_ID:10043192 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9002762 Ovarian Neoplasms ISO RGD:735341 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:9006333|REF_RGD_ID:2289661 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:21187137|REF_RGD_ID:8661793 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9002928 Colonic Neoplasms ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20876807 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9003036 Oral Lichen Planus ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:mucosa: PMID:12076323|REF_RGD_ID:8662419 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9003216 Salivary Gland Neoplasms onset ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:11103935|REF_RGD_ID:8662404 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:735341 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:18203777|REF_RGD_ID:2289651 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9004009 Reperfusion Injury ISO RGD:69328 D RGD:9068941 20200609 RGD PMID:10451498|REF_RGD_ID:10043817 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9004009 Reperfusion Injury ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16968891 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9004240 Phyllodes Tumor severity ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:17090194|REF_RGD_ID:2289654 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9004464 Skin Neoplasms ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:9264409|REF_RGD_ID:8662813 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9004484 Sepsis ISO RGD:69328 D RGD:9068941 20200609 RGD PMID:10451498|REF_RGD_ID:10043817 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9004547 Thyroid Neoplasms ISO RGD:69328 D RGD:9068941 20200609 RGD protein:decreased expression:thyroid gland PMID:23890812|REF_RGD_ID:13792775 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9004994 Embryo Loss ISO RGD:735341 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038060 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9005172 Lung Neoplasms ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12466968|PMID:18508827 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69328 D RGD:9068941 20200609 RGD protein:increased expression:testes: PMID:24828139|REF_RGD_ID:8662307 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9005873 Tongue Neoplasms disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:11488071|REF_RGD_ID:8662423 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9007170 Bowen's Disease ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:10583111|REF_RGD_ID:8662826 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9007188 Liver Neoplasms ISO RGD:735341 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9007400 Lip Neoplasms ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:17238970|REF_RGD_ID:8662391 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9007479 Habitual Abortions ISO RGD:735341 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038060 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9007480 Hyperoxia ISO RGD:69328 D RGD:9068941 20200609 RGD PMID:18082050|REF_RGD_ID:2289663 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9007480 Hyperoxia ISO RGD:732911 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:9476904|REF_RGD_ID:10043823 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:69328 D RGD:9068941 20200609 RGD PMID:10451498|REF_RGD_ID:10043817 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9007715 Endometrial Neoplasms ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:16837908|REF_RGD_ID:2289683 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9007715 Endometrial Neoplasms susceptibility ISO RGD:735341 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.S31R PMID:15099969|REF_RGD_ID:2296047 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9007964 Arsenic Poisoning ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:11860939|REF_RGD_ID:8662429 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9008824 Sarcopenia treatment ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:20022929|REF_RGD_ID:10043356 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9008939 Breast Neoplasms ISO RGD:735341 D RGD:9068941 20200609 RGD DNA:snp: :rs3176336 PMID:18174243|REF_RGD_ID:2289652 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:16537179|REF_RGD_ID:2289656 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9074 systemic lupus erythematosus ISO RGD:732911 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:916 liver benign neoplasm ISO RGD:69328 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:23890812|REF_RGD_ID:13792775 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9206 Barrett's esophagus ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:nucleus of esophagus mucosa: PMID:11753681|REF_RGD_ID:8662398 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9282 ocular hypertension ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:14985792|REF_RGD_ID:8661805 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9655 oral mucosa leukoplakia ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:10873097|REF_RGD_ID:8662371 12213368 CDKN1A cyclin dependent kinase inhibitor 1A gene DOID:9655 oral mucosa leukoplakia susceptibility ISO RGD:735341 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:149A>G(human) PMID:10873097|REF_RGD_ID:8662371 12213379 AGA aspartylglucosaminidase gene DOID:0050461 aspartylglucosaminuria ISO RGD:1320096 D RGD:7240710 20180130 OMIM 12213379 AGA aspartylglucosaminidase gene DOID:0050461 aspartylglucosaminuria ISO RGD:1320096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aspartylglucosaminuria | ClinVar Annotator: match by term: Aspartylglucosaminuria, finnish type PMID:10399108|PMID:10571008|PMID:11309371|PMID:11754099|PMID:15365992|PMID:1559710|PMID:16199547|PMID:1703489|PMID:1722323|PMID:1756604|PMID:17576681|PMID:1765378|PMID:1879549|PMID:18992224|PMID:1904874|PMID:2011603|PMID:21228398|PMID:23271757|PMID:24033266|PMID:25456816|PMID:25525159|PMID:25741868|PMID:27876883|PMID:2811876|PMID:28492532|PMID:29247835|PMID:29930972|PMID:29993127|PMID:30564628|PMID:33439067|PMID:6883788|PMID:7627186|PMID:7881426|PMID:8064811|PMID:8172656|PMID:8457202|PMID:8702913|PMID:8776587|PMID:8830180|PMID:9137882|PMID:9536098|PMID:9737998|PMID:9742145 12213379 AGA aspartylglucosaminidase gene DOID:1059 intellectual disability ISO RGD:1320096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:11309371|PMID:1722323|PMID:18992224|PMID:25456816|PMID:25741868|PMID:28492532|PMID:9737998 12213379 AGA aspartylglucosaminidase gene DOID:3211 lysosomal storage disease susceptibility ISO RGD:1320096 D RGD:9068941 20200609 RGD PMID:1703489|REF_RGD_ID:1598773 12213379 AGA aspartylglucosaminidase gene DOID:630 genetic disease ISO RGD:1320096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11309371|PMID:1722323|PMID:25741868|PMID:28492532|PMID:29247835|PMID:7627186 12213379 AGA aspartylglucosaminidase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320096 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:11309371|PMID:1722323|PMID:18992224|PMID:25456816|PMID:25741868|PMID:28492532|PMID:9737998 12213392 WSB1 WD repeat and SOCS box containing 1 gene DOID:630 genetic disease ISO RGD:1317261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213409 KLK8 kallikrein related peptidase 8 gene DOID:630 genetic disease ISO RGD:1314360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213426 TBC1D4 TBC1 domain family member 4 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1345136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12213426 TBC1D4 TBC1 domain family member 4 gene DOID:3138 acanthosis nigricans ISO RGD:1345136 D RGD:9068941 20200609 RGD PMID:19470471|REF_RGD_ID:7248544 12213426 TBC1D4 TBC1 domain family member 4 gene DOID:630 genetic disease ISO RGD:1345136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12213426 TBC1D4 TBC1 domain family member 4 gene DOID:9005905 Type 2 Diabetes Mellitus 5 ISO RGD:1345136 D RGD:7240710 20180130 OMIM 12213426 TBC1D4 TBC1 domain family member 4 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:1345136 D RGD:9068941 20200609 RGD PMID:19470471|REF_RGD_ID:7248544 12213426 TBC1D4 TBC1 domain family member 4 gene DOID:9007692 Insulin Resistance ISO RGD:1345136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Insulin resistance 12213452 LOC491382 zinc finger protein 658 gene DOID:37 skin disease ISO RGD:1345425 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28720099 12213452 LOC491382 zinc finger protein 658 gene DOID:630 genetic disease ISO RGD:1345425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213469 ADAT2 adenosine deaminase tRNA specific 2 gene DOID:630 genetic disease ISO RGD:1320091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213484 PCP4L1 Purkinje cell protein 4 like 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1602138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12213484 PCP4L1 Purkinje cell protein 4 like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12213484 PCP4L1 Purkinje cell protein 4 like 1 gene DOID:630 genetic disease ISO RGD:1602138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213484 PCP4L1 Purkinje cell protein 4 like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12213497 HS6ST1 heparan sulfate 6-O-sulfotransferase 1 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1319437 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 12213497 HS6ST1 heparan sulfate 6-O-sulfotransferase 1 gene DOID:0090075 hypogonadotropic hypogonadism 15 with or without anosmia ISO RGD:1319437 D RGD:7240710 20180130 OMIM 12213497 HS6ST1 heparan sulfate 6-O-sulfotransferase 1 gene DOID:0090075 hypogonadotropic hypogonadism 15 with or without anosmia ISO RGD:1319437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with or without anosmia PMID:21700882|PMID:23643382|PMID:24033266|PMID:25077900|PMID:25636053|PMID:25741868|PMID:27535533|PMID:28492532|PMID:6881209 12213497 HS6ST1 heparan sulfate 6-O-sulfotransferase 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1319437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:21700882|PMID:23643382|PMID:24033266|PMID:25636053|PMID:25741868|PMID:27535533|PMID:28492532 12213497 HS6ST1 heparan sulfate 6-O-sulfotransferase 1 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1319437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 12213497 HS6ST1 heparan sulfate 6-O-sulfotransferase 1 gene DOID:1921 Klinefelter syndrome ISO RGD:1319437 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 12213497 HS6ST1 heparan sulfate 6-O-sulfotransferase 1 gene DOID:630 genetic disease ISO RGD:1319437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213503 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:0111458 galactose epimerase deficiency ISO RGD:733716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: UDPglucose-4-epimerase deficiency 12213503 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:630 genetic disease ISO RGD:733716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15308132|PMID:15752612|PMID:17692550|PMID:19177531|PMID:23465862|PMID:25741868|PMID:25872961|PMID:28257639|PMID:28492532|PMID:28583327|PMID:9163320|PMID:9439591 12213503 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:733716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:10916782|PMID:14518825|PMID:15122894|PMID:15308132|PMID:16199547|PMID:16330550|PMID:17173698|PMID:17692550|PMID:19036343|PMID:19177531|PMID:19932602|PMID:23465862|PMID:25741868|PMID:25872961|PMID:28488182|PMID:28492532|PMID:28583327|PMID:28747690|PMID:8798725|PMID:9439591|PMID:9463337|PMID:9784232|PMID:9817922 12213503 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620554 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:5667251|REF_RGD_ID:2326171 12213503 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:733716 D RGD:7240710 20180130 OMIM 12213503 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:733716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:10916782|PMID:11129331|PMID:11461194|PMID:12746442|PMID:14518825|PMID:15122894|PMID:15308132|PMID:15752612|PMID:16199547|PMID:16330550|PMID:16601870|PMID:17173698|PMID:17576681|PMID:17628222|PMID:17692550|PMID:19036343|PMID:19177531|PMID:19932602|PMID:20532825|PMID:23465862|PMID:2443756|PMID:25741868|PMID:25872961|PMID:28220407|PMID:28257639|PMID:28488182|PMID:28492532|PMID:28583327|PMID:28747690|PMID:32059735|PMID:6085636|PMID:7479590|PMID:8617516|PMID:8798725|PMID:8978493|PMID:9163320|PMID:9439591|PMID:9463337|PMID:9536098|PMID:9784232|PMID:9817922 12213503 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:9252 amino acid metabolic disorder ISO RGD:733716 D RGD:9068941 20200609 RGD Hydroxymethylglutaric aciduria/HMG-CoA lyase deficiency DNA:deletion, frameshift_mutation:CDS:2-bp deletion in the serine-69 codon PMID:8440722|REF_RGD_ID:1599500 12213548 FABP1 fatty acid binding protein 1 gene DOID:10763 hypertension ISO RGD:736881 D RGD:9068941 20200609 RGD protein:increased excretion:urine:possibly related to arteriosclerosis (MeSH:D001161) PMID:15830271|REF_RGD_ID:1626441 12213548 FABP1 fatty acid binding protein 1 gene DOID:12556 acute kidney tubular necrosis ISO RGD:736881 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18368030 12213548 FABP1 fatty acid binding protein 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:736881 D RGD:9068941 20200609 RGD protein:increased expression:urine (human) PMID:16118482|REF_RGD_ID:1578453 12213548 FABP1 fatty acid binding protein 1 gene DOID:630 genetic disease ISO RGD:736881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213548 FABP1 fatty acid binding protein 1 gene DOID:783 end stage renal disease ISO RGD:736881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 12213548 FABP1 fatty acid binding protein 1 gene DOID:9004590 Acute Liver Failure ISO RGD:736881 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 12213548 FABP1 fatty acid binding protein 1 gene DOID:9452 fatty liver disease ISO RGD:10563 D RGD:9068941 20200609 RGD Western diet-induced hepatic steatosis; DNA:mutation::Fabp1 knockout mice PMID:17058218|REF_RGD_ID:1626440 12213548 FABP1 fatty acid binding protein 1 gene DOID:9455 lipid storage disease ISO RGD:736881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414 12213548 FABP1 fatty acid binding protein 1 gene DOID:9970 obesity ISO RGD:10563 D RGD:9068941 20200609 RGD Western diet-induced obesity; DNA:mutation::Fabp1 knockout mice PMID:17058218|REF_RGD_ID:1626440 12213556 ACO2 aconitase 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:733187 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12213556 ACO2 aconitase 2 gene DOID:0050883 infantile cerebellar-retinal degeneration ISO RGD:733187 D RGD:7240710 20180130 OMIM 12213556 ACO2 aconitase 2 gene DOID:0050883 infantile cerebellar-retinal degeneration ISO RGD:733187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration PMID:17576681|PMID:22405087|PMID:24088041|PMID:25351951|PMID:25741868|PMID:26992325|PMID:28492532|PMID:28545339|PMID:28559085|PMID:29564393|PMID:29577077|PMID:30689204|PMID:31130284|PMID:32214227|PMID:32449285|PMID:32519519|PMID:34056600|PMID:9536098 12213556 ACO2 aconitase 2 gene DOID:0080600 COVID-19 ISO RGD:733187 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12213556 ACO2 aconitase 2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:733187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 12213556 ACO2 aconitase 2 gene DOID:0111442 optic atrophy 9 ISO RGD:733187 D RGD:7240710 20180130 OMIM 12213556 ACO2 aconitase 2 gene DOID:0111442 optic atrophy 9 ISO RGD:733187 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: ACO2-related disorder | ClinVar Annotator: match by term: OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Optic atrophy 9 PMID:25351951|PMID:25741868|PMID:28492532|PMID:30689204|PMID:32449285|PMID:32519519|PMID:34056600 12213556 ACO2 aconitase 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:733187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12213556 ACO2 aconitase 2 gene DOID:630 genetic disease ISO RGD:733187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:30689204|PMID:32519519|PMID:34056600|PMID:9536098 12213556 ACO2 aconitase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:733187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12213556 ACO2 aconitase 2 gene DOID:8501 fundus dystrophy ISO RGD:733187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532|PMID:34056600 12213556 ACO2 aconitase 2 gene DOID:9008086 Developmental Disabilities ISO RGD:733187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12213578 ABHD16A abhydrolase domain containing 16A, phospholipase gene DOID:0050553 JMP syndrome ISO RGD:1351609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12213578 ABHD16A abhydrolase domain containing 16A, phospholipase gene DOID:0112342 hereditary spastic paraplegia 86 ISO RGD:1351609 D RGD:7240710 20220223 OMIM 12213578 ABHD16A abhydrolase domain containing 16A, phospholipase gene DOID:0112342 hereditary spastic paraplegia 86 ISO RGD:1351609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 86, autosomal recessive PMID:25741868|PMID:34587489|PMID:34866177 12213578 ABHD16A abhydrolase domain containing 16A, phospholipase gene DOID:11372 megacolon ISO RGD:1351609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12213578 ABHD16A abhydrolase domain containing 16A, phospholipase gene DOID:2476 hereditary spastic paraplegia ISO RGD:1351609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia | ClinVar Annotator: match by term: Complex hereditary spastic paraplegia PMID:25741868 12213578 ABHD16A abhydrolase domain containing 16A, phospholipase gene DOID:607 paraplegia ISO RGD:1351609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:34587489 12213578 ABHD16A abhydrolase domain containing 16A, phospholipase gene DOID:630 genetic disease ISO RGD:1351609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213578 ABHD16A abhydrolase domain containing 16A, phospholipase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351609 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12213610 CFAP206 cilia and flagella associated protein 206 gene DOID:630 genetic disease ISO RGD:1321665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213653 PCCB propionyl-CoA carboxylase subunit beta gene DOID:14701 propionic acidemia ISO RGD:731965 D RGD:7240710 20180130 OMIM 12213653 PCCB propionyl-CoA carboxylase subunit beta gene DOID:14701 propionic acidemia ISO RGD:731965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:10447268|PMID:10502773|PMID:10780784|PMID:10820128|PMID:10910839|PMID:11136555|PMID:11749052|PMID:12007220|PMID:12189489|PMID:12409268|PMID:12559849|PMID:12757933|PMID:12888983|PMID:15059621|PMID:15235904|PMID:15464417|PMID:15890657|PMID:15949719|PMID:16199547|PMID:17051315|PMID:17415538|PMID:17576681|PMID:17966092|PMID:18599334|PMID:19099776|PMID:19238581|PMID:19342984|PMID:20549364|PMID:20725044|PMID:21125326|PMID:2154743|PMID:22033733|PMID:22156789|PMID:22334403|PMID:22593918|PMID:22863191|PMID:23053474|PMID:23430860|PMID:24033266|PMID:24059531|PMID:24516753|PMID:24863100|PMID:24916042|PMID:25047749|PMID:25087612|PMID:25636094|PMID:25741868|PMID:25851414|PMID:25865301|PMID:26467025|PMID:26589311|PMID:26830710|PMID:27227689|PMID:27243974|PMID:27578510|PMID:27776753|PMID:27825584|PMID:27896094|PMID:27900673|PMID:28492532|PMID:28649556|PMID:28853722|PMID:29033250|PMID:29247206|PMID:29679984|PMID:30013935|PMID:30274917|PMID:30705822|PMID:31757659|PMID:31808324|PMID:31916709|PMID:32252659|PMID:32778825|PMID:32860008|PMID:33028371|PMID:33473339|PMID:33587123|PMID:33725819|PMID:33923806|PMID:33981581|PMID:34006296|PMID:8023851|PMID:8225321|PMID:8295402|PMID:8411997|PMID:8852656|PMID:9452096|PMID:9536098|PMID:9683601 12213653 PCCB propionyl-CoA carboxylase subunit beta gene DOID:630 genetic disease ISO RGD:731965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11136555|PMID:11749052|PMID:12757933|PMID:15059621|PMID:15464417|PMID:22033733|PMID:22334403|PMID:22593918|PMID:23053474|PMID:23430860|PMID:24863100|PMID:25741868|PMID:28492532|PMID:30274917|PMID:33473339|PMID:33725819|PMID:9683601 12213653 PCCB propionyl-CoA carboxylase subunit beta gene DOID:9008086 Developmental Disabilities ISO RGD:731965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 12213653 PCCB propionyl-CoA carboxylase subunit beta gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:731965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12213653 PCCB propionyl-CoA carboxylase subunit beta gene DOID:9252 amino acid metabolic disorder ISO RGD:731965 D RGD:9068941 20200609 RGD propionic acidemia, OMIM:606054, DNA:point mutation:exon:R412W PMID:8411997|REF_RGD_ID:1600331 12213672 CLTCL1 clathrin heavy chain like 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1350184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12213672 CLTCL1 clathrin heavy chain like 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1350184 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12213672 CLTCL1 clathrin heavy chain like 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1350184 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12213672 CLTCL1 clathrin heavy chain like 1 gene DOID:0080600 COVID-19 ISO RGD:1350184 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12213672 CLTCL1 clathrin heavy chain like 1 gene DOID:0111996 immunodeficiency 51 ISO RGD:1350184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12213672 CLTCL1 clathrin heavy chain like 1 gene DOID:1059 intellectual disability ISO RGD:1350184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12213672 CLTCL1 clathrin heavy chain like 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1350184 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12213672 CLTCL1 clathrin heavy chain like 1 gene DOID:11372 megacolon ISO RGD:1350184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12213672 CLTCL1 clathrin heavy chain like 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1350184 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12213672 CLTCL1 clathrin heavy chain like 1 gene DOID:12849 autistic disorder ISO RGD:1350184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:22511880|PMID:25741868|PMID:28492532|PMID:30208311 12213672 CLTCL1 clathrin heavy chain like 1 gene DOID:1826 epilepsy ISO RGD:1350184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12213672 CLTCL1 clathrin heavy chain like 1 gene DOID:5419 schizophrenia ISO RGD:1350184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12213672 CLTCL1 clathrin heavy chain like 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1350184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12213672 CLTCL1 clathrin heavy chain like 1 gene DOID:630 genetic disease ISO RGD:1350184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213672 CLTCL1 clathrin heavy chain like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12213672 CLTCL1 clathrin heavy chain like 1 gene DOID:9007661 Dwarfism ISO RGD:1350184 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12213672 CLTCL1 clathrin heavy chain like 1 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1350184 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12213721 DCAF8 DDB1 and CUL4 associated factor 8 gene DOID:0060178 familial hemiplegic migraine ISO RGD:1349472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 12213721 DCAF8 DDB1 and CUL4 associated factor 8 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1349472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:28492532 12213721 DCAF8 DDB1 and CUL4 associated factor 8 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1349472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12213721 DCAF8 DDB1 and CUL4 associated factor 8 gene DOID:0090069 giant axonal neuropathy 2 ISO RGD:1349472 D RGD:7240710 20180130 OMIM 12213721 DCAF8 DDB1 and CUL4 associated factor 8 gene DOID:0090069 giant axonal neuropathy 2 ISO RGD:1349472 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 2 PMID:24500646|PMID:25741868|PMID:28492532|PMID:3859241 12213721 DCAF8 DDB1 and CUL4 associated factor 8 gene DOID:1540 parathyroid carcinoma ISO RGD:1349472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12213721 DCAF8 DDB1 and CUL4 associated factor 8 gene DOID:630 genetic disease ISO RGD:1349472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213721 DCAF8 DDB1 and CUL4 associated factor 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12213742 PKNOX2 PBX/knotted 1 homeobox 2 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1348448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12213742 PKNOX2 PBX/knotted 1 homeobox 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1348448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12213742 PKNOX2 PBX/knotted 1 homeobox 2 gene DOID:5419 schizophrenia ISO RGD:1348448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12213742 PKNOX2 PBX/knotted 1 homeobox 2 gene DOID:630 genetic disease ISO RGD:1348448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213742 PKNOX2 PBX/knotted 1 homeobox 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12213742 PKNOX2 PBX/knotted 1 homeobox 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1348448 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12213742 PKNOX2 PBX/knotted 1 homeobox 2 gene DOID:9007661 Dwarfism ISO RGD:1348448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12213775 WRAP73 WD repeat containing, antisense to TP73 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1350775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12213775 WRAP73 WD repeat containing, antisense to TP73 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1350775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12213775 WRAP73 WD repeat containing, antisense to TP73 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1350775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12213775 WRAP73 WD repeat containing, antisense to TP73 gene DOID:0111934 immunodeficiency 38 ISO RGD:1350775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12213775 WRAP73 WD repeat containing, antisense to TP73 gene DOID:0111935 immunodeficiency 16 ISO RGD:1350775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12213775 WRAP73 WD repeat containing, antisense to TP73 gene DOID:630 genetic disease ISO RGD:1350775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213775 WRAP73 WD repeat containing, antisense to TP73 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12213775 WRAP73 WD repeat containing, antisense to TP73 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1350775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12213793 SF3B3 splicing factor 3b subunit 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1323197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12213793 SF3B3 splicing factor 3b subunit 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1323197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12213793 SF3B3 splicing factor 3b subunit 3 gene DOID:10283 prostate cancer ISO RGD:1323197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12213793 SF3B3 splicing factor 3b subunit 3 gene DOID:630 genetic disease ISO RGD:1323197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213826 SLC25A48 solute carrier family 25 member 48 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601716 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12213826 SLC25A48 solute carrier family 25 member 48 gene DOID:630 genetic disease ISO RGD:1601716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213826 SLC25A48 solute carrier family 25 member 48 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12213826 SLC25A48 solute carrier family 25 member 48 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601716 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12213859 SNRPF small nuclear ribonucleoprotein polypeptide F gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313451 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased protein binding:multiple (human) PMID:23799036|REF_RGD_ID:10768838 12213859 SNRPF small nuclear ribonucleoprotein polypeptide F gene DOID:9261 nasopharynx carcinoma ISO RGD:1313451 D RGD:9068941 20200609 RGD mRNA:increased expression:nasopharynx (human) PMID:24080422|REF_RGD_ID:10755709 12213869 EPS15L1 epidermal growth factor receptor pathway substrate 15 like 1 gene DOID:630 genetic disease ISO RGD:1345399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213909 AIRE autoimmune regulator gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1322440 D RGD:7240710 20180130 OMIM 12213909 AIRE autoimmune regulator gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1322440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:10084559|PMID:10677297|PMID:10720083|PMID:10946904|PMID:11275943|PMID:11343230|PMID:11524731|PMID:11524733|PMID:11600535|PMID:11836330|PMID:12050215|PMID:12471056|PMID:12503856|PMID:12542742|PMID:12625412|PMID:12843157|PMID:14557425|PMID:14582926|PMID:14974083|PMID:15511668|PMID:15712268|PMID:15811934|PMID:16114041|PMID:16166780|PMID:16199547|PMID:16313305|PMID:16684821|PMID:16774540|PMID:16784312|PMID:16792967|PMID:16965330|PMID:17101293|PMID:17118990|PMID:17189144|PMID:17220063|PMID:17289071|PMID:17539912|PMID:17576681|PMID:17675238|PMID:18200029|PMID:18248641|PMID:18264745|PMID:18274776|PMID:18320920|PMID:1836330|PMID:18399903|PMID:18414213|PMID:18414681|PMID:18426830|PMID:18616706|PMID:18682433|PMID:18708298|PMID:18713028|PMID:18728167|PMID:19037923|PMID:19209622|PMID:19246027|PMID:19265170|PMID:19322061|PMID:19758376|PMID:19807739|PMID:19863576|PMID:20140861|PMID:20185822|PMID:20407228|PMID:20453472|PMID:20718774|PMID:21070315|PMID:21295522|PMID:21505073|PMID:21508664|PMID:21724609|PMID:21865375|PMID:21932610|PMID:22024611|PMID:22104652|PMID:22162465|PMID:23000069|PMID:23074189|PMID:23133448|PMID:23320549|PMID:23342054|PMID:23620608|PMID:23643663|PMID:24014553|PMID:24033266|PMID:24158785|PMID:24703644|PMID:24948345|PMID:25064028|PMID:25068407|PMID:25361846|PMID:25367057|PMID:25402387|PMID:25707324|PMID:25741868|PMID:26084028|PMID:26114819|PMID:26141571|PMID:26467025|PMID:26650942|PMID:26915675|PMID:27048654|PMID:27105486|PMID:27253668|PMID:27266815|PMID:27504588|PMID:27588307|PMID:27646917|PMID:27884173|PMID:28323927|PMID:28446514|PMID:28472507|PMID:28492532|PMID:28567288|PMID:28911151|PMID:28919897|PMID:29129473|PMID:29335648|PMID:2943776|PMID:29437776|PMID:29666621|PMID:30003128|PMID:30287219|PMID:30290665|PMID:30863741|PMID:31420020|PMID:31433868|PMID:31588815|PMID:31874111|PMID:32373116|PMID:32441320|PMID:32531373|PMID:32627016|PMID:32767280|PMID:33225392|PMID:33352647|PMID:33468135|PMID:33574239|PMID:33599910|PMID:34008892|PMID:34573280|PMID:35521792|PMID:6031738|PMID:9398839|PMID:9398840|PMID:9536098|PMID:9717837|PMID:9837820|PMID:9856486|PMID:9888391|PMID:9921903 12213909 AIRE autoimmune regulator gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1322440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12213909 AIRE autoimmune regulator gene DOID:0110266 cataract 9 multiple types ISO RGD:1322440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12213909 AIRE autoimmune regulator gene DOID:12842 Guillain-Barre syndrome ISO RGD:1322441 D RGD:9068941 20220825 MouseDO OMIM:139393 12213909 AIRE autoimmune regulator gene DOID:12849 autistic disorder ISO RGD:1322440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12213909 AIRE autoimmune regulator gene DOID:12894 Sjogren's syndrome ISO RGD:1322441 D RGD:9068941 20220825 MouseDO OMIM:270150 12213909 AIRE autoimmune regulator gene DOID:14040 autoimmune polyendocrine syndrome ISO RGD:1311139 D RGD:9068941 20200910 RGD PMID:29959280|REF_RGD_ID:38599145 12213909 AIRE autoimmune regulator gene DOID:14040 autoimmune polyendocrine syndrome ISO RGD:1322440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16982213 12213909 AIRE autoimmune regulator gene DOID:14040 autoimmune polyendocrine syndrome susceptibility ISO RGD:1322440 D RGD:9068941 20200609 RGD PMID:9921903|REF_RGD_ID:1599008 12213909 AIRE autoimmune regulator gene DOID:1508 candidiasis ISO RGD:1322440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12050215 12213909 AIRE autoimmune regulator gene DOID:612 primary immunodeficiency disease ISO RGD:1322440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:16965330|PMID:19758376|PMID:25741868|PMID:28446514|PMID:28492532|PMID:28911151 12213909 AIRE autoimmune regulator gene DOID:630 genetic disease ISO RGD:1322440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12213909 AIRE autoimmune regulator gene DOID:891 progressive myoclonus epilepsy ISO RGD:1322440 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12213909 AIRE autoimmune regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12213909 AIRE autoimmune regulator gene DOID:9004464 Skin Neoplasms ISO RGD:1322440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26168014 12213909 AIRE autoimmune regulator gene DOID:9005643 Experimental Diabetes Mellitus susceptibility ISO RGD:1322441 D RGD:9068941 20200609 RGD PMID:18399912|REF_RGD_ID:2306853 12213909 AIRE autoimmune regulator gene DOID:9263 homocystinuria ISO RGD:1322440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12213909 AIRE autoimmune regulator gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12213926 SIRT1 sirtuin 1 gene DOID:0060180 colitis ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19940103|PMID:24548422|PMID:24782617 12213926 SIRT1 sirtuin 1 gene DOID:0060224 atrial fibrillation ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12213926 SIRT1 sirtuin 1 gene DOID:0060903 thrombosis ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25339356 12213926 SIRT1 sirtuin 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26026874 12213926 SIRT1 sirtuin 1 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:1318374 D RGD:9068941 20200609 RGD associated with Obesity, Morbid;mRNA:decreased expression:visceral abdominal adipose tissue PMID:20033348|REF_RGD_ID:9586021 12213926 SIRT1 sirtuin 1 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:1318374 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:22902550|REF_RGD_ID:9585746 12213926 SIRT1 sirtuin 1 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:17498258|REF_RGD_ID:9585663 12213926 SIRT1 sirtuin 1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 12213926 SIRT1 sirtuin 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1318374 D RGD:9068941 20200609 RGD PMID:23038275|REF_RGD_ID:9585760 12213926 SIRT1 sirtuin 1 gene DOID:10603 glucose intolerance ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21321189 12213926 SIRT1 sirtuin 1 gene DOID:10652 Alzheimer's disease ISO RGD:1318375 D RGD:9068941 20200609 RGD protein:increased expression:forebrain (mouse) PMID:17581637|REF_RGD_ID:2290573 12213926 SIRT1 sirtuin 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:1318375 D RGD:9068941 20200609 RGD PMID:16751189|REF_RGD_ID:10047116 12213926 SIRT1 sirtuin 1 gene DOID:114 heart disease ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23217256 12213926 SIRT1 sirtuin 1 gene DOID:11476 osteoporosis treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:22555620|PMID:25377437|REF_RGD_ID:10047129|REF_RGD_ID:10053568 12213926 SIRT1 sirtuin 1 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:1318375 D RGD:9068941 20220825 MouseDO OMIM:125800 | OMIM:304800 12213926 SIRT1 sirtuin 1 gene DOID:12858 Huntington's disease ISO RGD:1318374 D RGD:9068941 20200609 RGD human gene in a mouse model;DNA:repeat:exon:p.18(Q)82 (human) PMID:9949199|REF_RGD_ID:10395240 12213926 SIRT1 sirtuin 1 gene DOID:12858 Huntington's disease ISO RGD:1318374 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex PMID:18538940|REF_RGD_ID:9586004 12213926 SIRT1 sirtuin 1 gene DOID:12858 Huntington's disease ISO RGD:1318375 D RGD:9068941 20200609 RGD PMID:22179316|REF_RGD_ID:9585998 12213926 SIRT1 sirtuin 1 gene DOID:1289 neurodegenerative disease ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17581637|PMID:17652729 12213926 SIRT1 sirtuin 1 gene DOID:1826 epilepsy ISO RGD:1308542 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:23644113|REF_RGD_ID:9585747 12213926 SIRT1 sirtuin 1 gene DOID:1826 epilepsy ISO RGD:1318374 D RGD:9068941 20200609 RGD protein:increased expression:temporal lobe PMID:23644113|REF_RGD_ID:9585747 12213926 SIRT1 sirtuin 1 gene DOID:1875 impotence treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:24467772|REF_RGD_ID:9495931 12213926 SIRT1 sirtuin 1 gene DOID:1936 atherosclerosis ISO RGD:1308542 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;mRNA:decreased expression:abdominal aorta PMID:21810449|REF_RGD_ID:9585743 12213926 SIRT1 sirtuin 1 gene DOID:1936 atherosclerosis ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20068143 12213926 SIRT1 sirtuin 1 gene DOID:3021 acute kidney failure ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21416250 12213926 SIRT1 sirtuin 1 gene DOID:3021 acute kidney failure severity ISO RGD:1308542 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:21416250|REF_RGD_ID:10047111 12213926 SIRT1 sirtuin 1 gene DOID:3213 demyelinating disease ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23547115 12213926 SIRT1 sirtuin 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1318375 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (mouse) PMID:17581637|REF_RGD_ID:2290573 12213926 SIRT1 sirtuin 1 gene DOID:3347 osteosarcoma ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793039 12213926 SIRT1 sirtuin 1 gene DOID:3454 brain infarction ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22878646 12213926 SIRT1 sirtuin 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:1318375 D RGD:9068941 20200609 RGD PMID:23600725|REF_RGD_ID:9585664 12213926 SIRT1 sirtuin 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:23600725|REF_RGD_ID:9585664 12213926 SIRT1 sirtuin 1 gene DOID:417 autoimmune disease ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23993977 12213926 SIRT1 sirtuin 1 gene DOID:418 systemic scleroderma ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25707573 12213926 SIRT1 sirtuin 1 gene DOID:4448 macular degeneration ISO RGD:1318374 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:21890195|REF_RGD_ID:9585773 12213926 SIRT1 sirtuin 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19720090 12213926 SIRT1 sirtuin 1 gene DOID:552 pneumonia ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24633890 12213926 SIRT1 sirtuin 1 gene DOID:5679 retinal disease ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23217256 12213926 SIRT1 sirtuin 1 gene DOID:5844 myocardial infarction ISO RGD:1308542 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:20089851|REF_RGD_ID:2316169 12213926 SIRT1 sirtuin 1 gene DOID:6000 congestive heart failure ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24535859 12213926 SIRT1 sirtuin 1 gene DOID:630 genetic disease ISO RGD:1318374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213926 SIRT1 sirtuin 1 gene DOID:8947 diabetic retinopathy ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24894401 12213926 SIRT1 sirtuin 1 gene DOID:9000040 Hypertrophy ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23297412 12213926 SIRT1 sirtuin 1 gene DOID:9000310 Lung Injury ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24633890 12213926 SIRT1 sirtuin 1 gene DOID:9000784 Fibrosis ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20651248 12213926 SIRT1 sirtuin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793039 12213926 SIRT1 sirtuin 1 gene DOID:9000998 Brain Injuries treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:17970622|REF_RGD_ID:9497541 12213926 SIRT1 sirtuin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26435214 12213926 SIRT1 sirtuin 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:1308542 D RGD:9068941 20200609 RGD protein:decreased expression:heart left ventricle PMID:21554952|REF_RGD_ID:9585770 12213926 SIRT1 sirtuin 1 gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:22113495|REF_RGD_ID:7240568 12213926 SIRT1 sirtuin 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24894820 12213926 SIRT1 sirtuin 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:24557422|REF_RGD_ID:9497542 12213926 SIRT1 sirtuin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21062352 12213926 SIRT1 sirtuin 1 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:17322642|REF_RGD_ID:9586020 12213926 SIRT1 sirtuin 1 gene DOID:9002498 Wallerian Degeneration ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24252177 12213926 SIRT1 sirtuin 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23547115 12213926 SIRT1 sirtuin 1 gene DOID:9002955 Nerve Degeneration ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17581637 12213926 SIRT1 sirtuin 1 gene DOID:9002981 Genomic Instability ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23217256 12213926 SIRT1 sirtuin 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:25281201|REF_RGD_ID:13514043 12213926 SIRT1 sirtuin 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1308542 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:myocardium PMID:18192848|REF_RGD_ID:2293330 12213926 SIRT1 sirtuin 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1308542 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA, protein:increased expression:heart PMID:19142216|REF_RGD_ID:9495934 12213926 SIRT1 sirtuin 1 gene DOID:9005246 Paralysis ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23547115 12213926 SIRT1 sirtuin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23090186|PMID:23792339 12213926 SIRT1 sirtuin 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:22179968|REF_RGD_ID:9586012 12213926 SIRT1 sirtuin 1 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:22324445|REF_RGD_ID:9495930 12213926 SIRT1 sirtuin 1 gene DOID:9006302 Binge Drinking ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:24416161|REF_RGD_ID:9495933 12213926 SIRT1 sirtuin 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:1308542 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus (rat) PMID:25356430|REF_RGD_ID:10053569 12213926 SIRT1 sirtuin 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20068143 12213926 SIRT1 sirtuin 1 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:21514307|REF_RGD_ID:9585758 12213926 SIRT1 sirtuin 1 gene DOID:9006778 Carotid Atherosclerosis ISO RGD:1318374 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:carotid artery segment PMID:23224247|REF_RGD_ID:9495924 12213926 SIRT1 sirtuin 1 gene DOID:9007502 Brain Neoplasms ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22523472 12213926 SIRT1 sirtuin 1 gene DOID:9007692 Insulin Resistance ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20068143|PMID:21321189|PMID:24442997|PMID:25849131|PMID:26026874 12213926 SIRT1 sirtuin 1 gene DOID:9007692 Insulin Resistance treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD associated with Obesity PMID:19996381|REF_RGD_ID:9585759 12213926 SIRT1 sirtuin 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21060073 12213926 SIRT1 sirtuin 1 gene DOID:9008691 Liver Injury treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD associated with Sepsis PMID:25004063|REF_RGD_ID:9586016 12213926 SIRT1 sirtuin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19839049 12213926 SIRT1 sirtuin 1 gene DOID:9351 diabetes mellitus ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24894401 12213926 SIRT1 sirtuin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23834033 12213926 SIRT1 sirtuin 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:19549853|REF_RGD_ID:9585997 12213926 SIRT1 sirtuin 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:1318375 D RGD:9068941 20200609 RGD associated with Obesity PMID:18046409|REF_RGD_ID:9585769 12213926 SIRT1 sirtuin 1 gene DOID:9452 fatty liver disease ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21321189|PMID:23834033|PMID:24184811|PMID:24210820|PMID:24442997 12213926 SIRT1 sirtuin 1 gene DOID:9452 fatty liver disease ISO RGD:1318375 D RGD:9068941 20200609 RGD associated with Obesity PMID:21540183|REF_RGD_ID:9585751 12213926 SIRT1 sirtuin 1 gene DOID:9452 fatty liver disease ISO RGD:1318375 D RGD:9068941 20220825 MouseDO OMIM:228100 12213926 SIRT1 sirtuin 1 gene DOID:9669 senile cataract ISO RGD:1318374 D RGD:9068941 20200609 RGD PMID:21501079|REF_RGD_ID:10045354 12213926 SIRT1 sirtuin 1 gene DOID:9970 obesity ISO RGD:1308542 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:24135502|REF_RGD_ID:9586064 12213926 SIRT1 sirtuin 1 gene DOID:9970 obesity ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24184811 12213926 SIRT1 sirtuin 1 gene DOID:9970 obesity treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:24773342|REF_RGD_ID:9585762 12213942 TLX3 T cell leukemia homeobox 3 gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:1615148 D RGD:9068941 20220825 MouseDO OMIM:209880 12213942 TLX3 T cell leukemia homeobox 3 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1353737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12213942 TLX3 T cell leukemia homeobox 3 gene DOID:630 genetic disease ISO RGD:1353737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213949 MEAK7 MTOR associated protein, eak-7 homolog gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1605650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12213949 MEAK7 MTOR associated protein, eak-7 homolog gene DOID:630 genetic disease ISO RGD:1605650 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213966 PRSS22 serine protease 22 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1322033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12213966 PRSS22 serine protease 22 gene DOID:10283 prostate cancer ISO RGD:1322033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12213966 PRSS22 serine protease 22 gene DOID:1826 epilepsy ISO RGD:1322033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12213966 PRSS22 serine protease 22 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1322033 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12213966 PRSS22 serine protease 22 gene DOID:630 genetic disease ISO RGD:1322033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213976 GAS2L2 growth arrest specific 2 like 2 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:1317311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 12213976 GAS2L2 growth arrest specific 2 like 2 gene DOID:0111858 primary ciliary dyskinesia 41 ISO RGD:1317311 D RGD:7240710 20190626 OMIM 12213976 GAS2L2 growth arrest specific 2 like 2 gene DOID:0111858 primary ciliary dyskinesia 41 ISO RGD:1317311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 41 PMID:25741868|PMID:30665704 12213976 GAS2L2 growth arrest specific 2 like 2 gene DOID:630 genetic disease ISO RGD:1317311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12213976 GAS2L2 growth arrest specific 2 like 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:30665704 12213985 RASL10B RAS like family 10 member B gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:1322024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 12213985 RASL10B RAS like family 10 member B gene DOID:11612 polycystic ovary syndrome ISO RGD:1322024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12213985 RASL10B RAS like family 10 member B gene DOID:630 genetic disease ISO RGD:1322024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12213992 LOC491519 caspase recruitment domain family, member 8 gene DOID:0112154 inflammatory bowel disease 30 ISO RGD:1351599 D RGD:7240710 20201111 OMIM 12213992 LOC491519 caspase recruitment domain family, member 8 gene DOID:0112154 inflammatory bowel disease 30 ISO RGD:1351599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 30 PMID:25741868|PMID:28492532|PMID:29408806 12213992 LOC491519 caspase recruitment domain family, member 8 gene DOID:13189 gout ISO RGD:1351599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26462562 12213992 LOC491519 caspase recruitment domain family, member 8 gene DOID:1532 pleural disease ISO RGD:1351599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 12213992 LOC491519 caspase recruitment domain family, member 8 gene DOID:630 genetic disease ISO RGD:1351599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12213992 LOC491519 caspase recruitment domain family, member 8 gene DOID:9005463 Occupational Diseases ISO RGD:1351599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 12214016 CT55 cancer/testis antigen 55 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12214016 CT55 cancer/testis antigen 55 gene DOID:12849 autistic disorder ISO RGD:1353544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12214016 CT55 cancer/testis antigen 55 gene DOID:630 genetic disease ISO RGD:1353544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214016 CT55 cancer/testis antigen 55 gene DOID:9005480 X-Linked Spermatogenic Failure 7 ISO RGD:1353544 D RGD:7240710 20230505 OMIM 12214016 CT55 cancer/testis antigen 55 gene DOID:9005480 X-Linked Spermatogenic Failure 7 ISO RGD:1353544 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 7 PMID:36481789 12214025 LYPD6 LY6/PLAUR domain containing 6 gene DOID:630 genetic disease ISO RGD:1605579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214034 CCDC190 coiled-coil domain containing 190 gene DOID:1540 parathyroid carcinoma ISO RGD:1606402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12214034 CCDC190 coiled-coil domain containing 190 gene DOID:630 genetic disease ISO RGD:1606402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214034 CCDC190 coiled-coil domain containing 190 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12214047 PATL1 PAT1 homolog 1, processing body mRNA decay factor gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606423 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12214047 PATL1 PAT1 homolog 1, processing body mRNA decay factor gene DOID:1059 intellectual disability ISO RGD:1606423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12214047 PATL1 PAT1 homolog 1, processing body mRNA decay factor gene DOID:630 genetic disease ISO RGD:1606423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214070 C1H19orf47 chromosome 1 C19orf47 homolog gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1605879 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12214070 C1H19orf47 chromosome 1 C19orf47 homolog gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1605879 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12214070 C1H19orf47 chromosome 1 C19orf47 homolog gene DOID:1342 congenital hypoplastic anemia ISO RGD:1605879 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12214070 C1H19orf47 chromosome 1 C19orf47 homolog gene DOID:2340 craniosynostosis ISO RGD:1605879 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12214070 C1H19orf47 chromosome 1 C19orf47 homolog gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1605879 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12214070 C1H19orf47 chromosome 1 C19orf47 homolog gene DOID:9269 maple syrup urine disease ISO RGD:1605879 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12214070 C1H19orf47 chromosome 1 C19orf47 homolog gene DOID:9352 type 2 diabetes mellitus ISO RGD:1605879 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12214102 AGPAT4 1-acylglycerol-3-phosphate O-acyltransferase 4 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1354001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 12214102 AGPAT4 1-acylglycerol-3-phosphate O-acyltransferase 4 gene DOID:630 genetic disease ISO RGD:1354001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214126 CRIP1 cysteine rich protein 1 gene DOID:630 genetic disease ISO RGD:1348993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214135 TMEM179 transmembrane protein 179 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1346739 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12214146 SHOC1 shortage in chiasmata 1 gene DOID:9003010 Spermatogenic Failure 75 ISO RGD:1351188 D RGD:7240710 20221109 OMIM 12214146 SHOC1 shortage in chiasmata 1 gene DOID:9003010 Spermatogenic Failure 75 ISO RGD:1351188 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 75 PMID:32741963|PMID:32900840|PMID:35485979 12214180 EPS8L2 EPS8 like 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1322090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12214180 EPS8L2 EPS8 like 2 gene DOID:0050729 neutral lipid storage disease ISO RGD:1322090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 12214180 EPS8L2 EPS8 like 2 gene DOID:0080261 autosomal recessive nonsyndromic deafness 106 ISO RGD:1322090 D RGD:7240710 20190315 OMIM 12214180 EPS8L2 EPS8 like 2 gene DOID:0080261 autosomal recessive nonsyndromic deafness 106 ISO RGD:1322090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 106 PMID:25741868|PMID:26282398|PMID:28281779|PMID:28492532|PMID:32747562 12214180 EPS8L2 EPS8 like 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1322090 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12214180 EPS8L2 EPS8 like 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:1322090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12214180 EPS8L2 EPS8 like 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1322090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12214180 EPS8L2 EPS8 like 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1322090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12214180 EPS8L2 EPS8 like 2 gene DOID:630 genetic disease ISO RGD:1322090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 12214180 EPS8L2 EPS8 like 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1322090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12214210 MIRLET7F microRNA let-7f gene DOID:12642 hiatus hernia ISO RGD:1350549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hiatus hernia 12214213 MIR378 microRNA mir-378 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1345940 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12214213 MIR378 microRNA mir-378 gene DOID:2043 hepatitis B ISO RGD:1345940 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12214213 MIR378 microRNA mir-378 gene DOID:3770 pulmonary fibrosis ISO RGD:1345940 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 12214213 MIR378 microRNA mir-378 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12214213 MIR378 microRNA mir-378 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345940 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12214213 MIR378 microRNA mir-378 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345940 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12214269 TPBG trophoblast glycoprotein gene DOID:0111953 immunodeficiency 23 ISO RGD:1345613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:24931394 12214269 TPBG trophoblast glycoprotein gene DOID:630 genetic disease ISO RGD:1345613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214269 TPBG trophoblast glycoprotein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12214293 PDE5A phosphodiesterase 5A gene DOID:10591 pre-eclampsia ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:18538317|REF_RGD_ID:2314465 12214293 PDE5A phosphodiesterase 5A gene DOID:12236 primary biliary cholangitis ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:17610866|REF_RGD_ID:2314466 12214293 PDE5A phosphodiesterase 5A gene DOID:1875 impotence ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:15667904|REF_RGD_ID:2314520 12214293 PDE5A phosphodiesterase 5A gene DOID:1875 impotence ISO RGD:620995 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:15578039|REF_RGD_ID:2314521 12214293 PDE5A phosphodiesterase 5A gene DOID:1875 impotence ISO RGD:620995 D RGD:9068941 20200609 RGD associated with Hypercholesterolemia PMID:15920460|REF_RGD_ID:2314519 12214293 PDE5A phosphodiesterase 5A gene DOID:2986 IgA glomerulonephritis ISO RGD:732674 D RGD:9068941 20200609 RGD DNA:SNP: :rs13124532(human) PMID:20563733|REF_RGD_ID:7248685 12214293 PDE5A phosphodiesterase 5A gene DOID:4762 vasculogenic impotence ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:17287493|REF_RGD_ID:2314469 12214293 PDE5A phosphodiesterase 5A gene DOID:5844 myocardial infarction ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:17339532|REF_RGD_ID:2314468 12214293 PDE5A phosphodiesterase 5A gene DOID:630 genetic disease ISO RGD:732674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214293 PDE5A phosphodiesterase 5A gene DOID:6432 pulmonary hypertension ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:19881228|REF_RGD_ID:2314460 12214293 PDE5A phosphodiesterase 5A gene DOID:9000965 Neoplasm Metastasis ISO RGD:732674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12972520 12214293 PDE5A phosphodiesterase 5A gene DOID:9003936 Cardiomegaly treatment ISO RGD:737352 D RGD:9068941 20200609 RGD PMID:15665834|REF_RGD_ID:1581008 12214293 PDE5A phosphodiesterase 5A gene DOID:9004009 Reperfusion Injury ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:19474186|REF_RGD_ID:2314462 12214293 PDE5A phosphodiesterase 5A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12214293 PDE5A phosphodiesterase 5A gene DOID:9004538 Hearing Loss treatment ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:22270721|REF_RGD_ID:7775056 12214293 PDE5A phosphodiesterase 5A gene DOID:9004538 Hearing Loss treatment ISO RGD:737352 D RGD:9068941 20200609 RGD PMID:22270721|REF_RGD_ID:7775056 12214293 PDE5A phosphodiesterase 5A gene DOID:9005372 Inflammation ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:19129291|REF_RGD_ID:2314463 12214293 PDE5A phosphodiesterase 5A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:19542492|REF_RGD_ID:2314461 12214293 PDE5A phosphodiesterase 5A gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:17606845|REF_RGD_ID:2314467 12214293 PDE5A phosphodiesterase 5A gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:732674 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium PMID:17606845|REF_RGD_ID:2314467 12214293 PDE5A phosphodiesterase 5A gene DOID:9006599 Hypertriglyceridemia ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:18787522|REF_RGD_ID:2314464 12214293 PDE5A phosphodiesterase 5A gene DOID:9007096 Stroke ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:19729580|REF_RGD_ID:2314459 12214333 TPT1 tumor protein, translationally-controlled 1 gene DOID:630 genetic disease ISO RGD:735250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214333 TPT1 tumor protein, translationally-controlled 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:735250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 12214333 TPT1 tumor protein, translationally-controlled 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12214343 NAA20 N-alpha-acetyltransferase 20, NatB catalytic subunit gene DOID:0081233 autosomal recessive intellectual developmental disorder 73 ISO RGD:1317063 D RGD:7240710 20220323 OMIM 12214343 NAA20 N-alpha-acetyltransferase 20, NatB catalytic subunit gene DOID:0081233 autosomal recessive intellectual developmental disorder 73 ISO RGD:1317063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 73 12214343 NAA20 N-alpha-acetyltransferase 20, NatB catalytic subunit gene DOID:630 genetic disease ISO RGD:1317063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214358 FBXO8 F-box protein 8 gene DOID:630 genetic disease ISO RGD:1316882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214358 FBXO8 F-box protein 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12214369 ARL8A ADP ribosylation factor like GTPase 8A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1348114 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12214369 ARL8A ADP ribosylation factor like GTPase 8A gene DOID:1540 parathyroid carcinoma ISO RGD:1348114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12214369 ARL8A ADP ribosylation factor like GTPase 8A gene DOID:630 genetic disease ISO RGD:1348114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214369 ARL8A ADP ribosylation factor like GTPase 8A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348114 D RGD:9068941 20211224 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12214369 ARL8A ADP ribosylation factor like GTPase 8A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1348114 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12214369 ARL8A ADP ribosylation factor like GTPase 8A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12214389 PEAK1 pseudopodium enriched atypical kinase 1 gene DOID:2717 Bloom syndrome ISO RGD:7374592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12214389 PEAK1 pseudopodium enriched atypical kinase 1 gene DOID:5419 schizophrenia ISO RGD:7374592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12214389 PEAK1 pseudopodium enriched atypical kinase 1 gene DOID:630 genetic disease ISO RGD:7374592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214389 PEAK1 pseudopodium enriched atypical kinase 1 gene DOID:9256 colorectal cancer ISO RGD:7374592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12214422 ZBTB20 zinc finger and BTB domain containing 20 gene DOID:0060041 autism spectrum disorder ISO RGD:1351632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12214422 ZBTB20 zinc finger and BTB domain containing 20 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1351632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28220687 12214422 ZBTB20 zinc finger and BTB domain containing 20 gene DOID:0080600 COVID-19 ISO RGD:1351632 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12214422 ZBTB20 zinc finger and BTB domain containing 20 gene DOID:1059 intellectual disability ISO RGD:1351632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12214422 ZBTB20 zinc finger and BTB domain containing 20 gene DOID:12849 autistic disorder ISO RGD:1351632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 12214422 ZBTB20 zinc finger and BTB domain containing 20 gene DOID:630 genetic disease ISO RGD:1351632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10940247|PMID:25017102|PMID:25741868|PMID:28462983|PMID:28492532 12214422 ZBTB20 zinc finger and BTB domain containing 20 gene DOID:9000217 Stomach Neoplasms ISO RGD:1351632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22037551 12214422 ZBTB20 zinc finger and BTB domain containing 20 gene DOID:9001681 Primrose Syndrome ISO RGD:1351632 D RGD:7240710 20180130 OMIM 12214422 ZBTB20 zinc finger and BTB domain containing 20 gene DOID:9001681 Primrose Syndrome ISO RGD:1351632 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primrose syndrome PMID:21567911|PMID:21910247|PMID:25017102|PMID:25741868|PMID:28327206|PMID:28492532|PMID:29737001|PMID:30256248 12214422 ZBTB20 zinc finger and BTB domain containing 20 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28319090 12214422 ZBTB20 zinc finger and BTB domain containing 20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351632 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12214422 ZBTB20 zinc finger and BTB domain containing 20 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1351632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12214475 ZBTB4 zinc finger and BTB domain containing 4 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1316223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12214475 ZBTB4 zinc finger and BTB domain containing 4 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1316223 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12214475 ZBTB4 zinc finger and BTB domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1316223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12214475 ZBTB4 zinc finger and BTB domain containing 4 gene DOID:12177 common variable immunodeficiency ISO RGD:1316223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12214475 ZBTB4 zinc finger and BTB domain containing 4 gene DOID:2729 dyskeratosis congenita ISO RGD:1316223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12214475 ZBTB4 zinc finger and BTB domain containing 4 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1316223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12214475 ZBTB4 zinc finger and BTB domain containing 4 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1316223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12214475 ZBTB4 zinc finger and BTB domain containing 4 gene DOID:630 genetic disease ISO RGD:1316223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214475 ZBTB4 zinc finger and BTB domain containing 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12214506 PDILT protein disulfide isomerase like, testis expressed gene DOID:630 genetic disease ISO RGD:1602970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214531 RAB25 RAB25, member RAS oncogene family gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1318219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12214531 RAB25 RAB25, member RAS oncogene family gene DOID:0060586 Noonan syndrome 8 ISO RGD:1318219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 12214531 RAB25 RAB25, member RAS oncogene family gene DOID:0111940 immunodeficiency 42 ISO RGD:1318219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12214531 RAB25 RAB25, member RAS oncogene family gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1318219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12214531 RAB25 RAB25, member RAS oncogene family gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1318219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12214531 RAB25 RAB25, member RAS oncogene family gene DOID:1540 parathyroid carcinoma ISO RGD:1318219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12214531 RAB25 RAB25, member RAS oncogene family gene DOID:5812 MHC class II deficiency ISO RGD:1318219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12214531 RAB25 RAB25, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1318219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214531 RAB25 RAB25, member RAS oncogene family gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12214553 FAM241A family with sequence similarity 241 member A gene DOID:12271 aniridia ISO RGD:1606723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 12214559 CYLC1 cylicin 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12214559 CYLC1 cylicin 1 gene DOID:12849 autistic disorder ISO RGD:1348149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12214559 CYLC1 cylicin 1 gene DOID:630 genetic disease ISO RGD:1348149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214572 POLR2K RNA polymerase II, I and III subunit K gene DOID:0050144 Kartagener syndrome ISO RGD:1352672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:24055112 12214572 POLR2K RNA polymerase II, I and III subunit K gene DOID:0110607 primary ciliary dyskinesia 28 ISO RGD:1352672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 28 PMID:24055112 12214572 POLR2K RNA polymerase II, I and III subunit K gene DOID:0111590 Cohen syndrome ISO RGD:1352672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12214572 POLR2K RNA polymerase II, I and III subunit K gene DOID:630 genetic disease ISO RGD:1352672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214607 PMCH pro-melanin concentrating hormone gene DOID:630 genetic disease ISO RGD:731886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214607 PMCH pro-melanin concentrating hormone gene DOID:9007692 Insulin Resistance ISO RGD:3358 D RGD:9068941 20200609 RGD PMID:16002548|REF_RGD_ID:1642484 12214607 PMCH pro-melanin concentrating hormone gene DOID:9970 obesity ISO RGD:1553120 D RGD:9068941 20200609 RGD associated with Hyperphagia PMID:12453827|REF_RGD_ID:1642486 12214607 PMCH pro-melanin concentrating hormone gene DOID:9970 obesity ISO RGD:3358 D RGD:9068941 20200609 RGD associated with Hyperphagia;protein:increased expression:hypothalamus PMID:15363890|REF_RGD_ID:1624360 12214607 PMCH pro-melanin concentrating hormone gene DOID:9970 obesity ISO RGD:731886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12355323 12214612 MKRN1 makorin ring finger protein 1 gene DOID:0080690 RASopathy ISO RGD:1347564 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12214612 MKRN1 makorin ring finger protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12214612 MKRN1 makorin ring finger protein 1 gene DOID:630 genetic disease ISO RGD:1347564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214624 FBL fibrillarin gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1313628 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12214624 FBL fibrillarin gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1313628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12214624 FBL fibrillarin gene DOID:1342 congenital hypoplastic anemia ISO RGD:1313628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12214624 FBL fibrillarin gene DOID:2340 craniosynostosis ISO RGD:1313628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12214624 FBL fibrillarin gene DOID:3910 lung adenocarcinoma ISO RGD:1313628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12214624 FBL fibrillarin gene DOID:417 autoimmune disease ISO RGD:1313628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19077085|PMID:8738957|PMID:9693280 12214624 FBL fibrillarin gene DOID:630 genetic disease ISO RGD:1313628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214624 FBL fibrillarin gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1313628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12214624 FBL fibrillarin gene DOID:9006205 Animal Disease Models ISO RGD:1313628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12214624 FBL fibrillarin gene DOID:9008939 Breast Neoplasms ISO RGD:1313628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12214624 FBL fibrillarin gene DOID:9269 maple syrup urine disease ISO RGD:1313628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12214624 FBL fibrillarin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1313628 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12214637 IL18BP interleukin 18 binding protein gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1348622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 12214637 IL18BP interleukin 18 binding protein gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1348622 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acute promyelocytic leukemia PMID:25741868|PMID:28492532 12214637 IL18BP interleukin 18 binding protein gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1348622 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12214637 IL18BP interleukin 18 binding protein gene DOID:1059 intellectual disability ISO RGD:1348622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12214637 IL18BP interleukin 18 binding protein gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1348622 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:15566508|REF_RGD_ID:14696666 12214637 IL18BP interleukin 18 binding protein gene DOID:1485 cystic fibrosis ISO RGD:1348622 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20026745|REF_RGD_ID:4889551 12214637 IL18BP interleukin 18 binding protein gene DOID:1884 viral hepatitis ISO RGD:1348622 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatitis, fulminant viral, susceptibility to PMID:25741868|PMID:28492532|PMID:31213488 12214637 IL18BP interleukin 18 binding protein gene DOID:2349 arteriosclerosis ISO RGD:1551696 D RGD:9068941 20200609 RGD PMID:11577031|REF_RGD_ID:4892618 12214637 IL18BP interleukin 18 binding protein gene DOID:3042 allergic contact dermatitis treatment ISO RGD:1348622 D RGD:9068941 20200609 RGD PMID:12874202|REF_RGD_ID:8655940 12214637 IL18BP interleukin 18 binding protein gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348622 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20026745|REF_RGD_ID:4889551 12214637 IL18BP interleukin 18 binding protein gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1348622 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:12462332|REF_RGD_ID:14695542 12214637 IL18BP interleukin 18 binding protein gene DOID:5844 myocardial infarction ISO RGD:1348622 D RGD:9068941 20200609 RGD PMID:19805173|REF_RGD_ID:4889400 12214637 IL18BP interleukin 18 binding protein gene DOID:630 genetic disease ISO RGD:1348622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12214637 IL18BP interleukin 18 binding protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348622 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12214637 IL18BP interleukin 18 binding protein gene DOID:9002159 Liver Reperfusion Injury ISO RGD:620042 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver PMID:25919765|REF_RGD_ID:14696667 12214637 IL18BP interleukin 18 binding protein gene DOID:9004283 Transplant Rejection ISO RGD:620042 D RGD:9068941 20200609 RGD PMID:21962809|REF_RGD_ID:8655943 12214637 IL18BP interleukin 18 binding protein gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:620042 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:18959458|REF_RGD_ID:2313895 12214637 IL18BP interleukin 18 binding protein gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1348622 D RGD:9068941 20200609 RGD PMID:19805173|REF_RGD_ID:4889400 12214637 IL18BP interleukin 18 binding protein gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1551696 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:19164288|REF_RGD_ID:4889578 12214654 DAZL deleted in azoospermia like gene DOID:0060417 3p deletion syndrome ISO RGD:1352695 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12214654 DAZL deleted in azoospermia like gene DOID:630 genetic disease ISO RGD:1352695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214654 DAZL deleted in azoospermia like gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1352695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23666240 12214674 ARHGAP26 Rho GTPase activating protein 26 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1322105 D RGD:7240710 20180130 OMIM 12214674 ARHGAP26 Rho GTPase activating protein 26 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1322105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:10908648 12214674 ARHGAP26 Rho GTPase activating protein 26 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1322105 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12214674 ARHGAP26 Rho GTPase activating protein 26 gene DOID:0081082 acute myelomonocytic leukemia ISO RGD:1322105 D RGD:9068941 20200609 RGD juvenile myelomonocytic leukemia, OMIM:607785 translocation t(5;11)(q31;q23) fusing ARHGAP26 to MLL in one allele and point mutation A1255G/Asn417Ser or one of two insertions in second allele PMID:10908648|REF_RGD_ID:1599311 12214674 ARHGAP26 Rho GTPase activating protein 26 gene DOID:630 genetic disease ISO RGD:1322105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214674 ARHGAP26 Rho GTPase activating protein 26 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12214674 ARHGAP26 Rho GTPase activating protein 26 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322105 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12214718 ALG3 ALG3 alpha-1,3- mannosyltransferase gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1314369 D RGD:7240710 20180130 OMIM 12214718 ALG3 ALG3 alpha-1,3- mannosyltransferase gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1314369 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CDGS, TYPE IV | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:10581255|PMID:11181649|PMID:15108280|PMID:15359379|PMID:15840742|PMID:16006436|PMID:17551933|PMID:22642865|PMID:23806237|PMID:25741868|PMID:27172925|PMID:28492532|PMID:29667327|PMID:30167849|PMID:31067009|PMID:33583022|PMID:34090370|PMID:8552211 12214718 ALG3 ALG3 alpha-1,3- mannosyltransferase gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1314369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12214718 ALG3 ALG3 alpha-1,3- mannosyltransferase gene DOID:0111546 Currarino syndrome ISO RGD:1314369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12214718 ALG3 ALG3 alpha-1,3- mannosyltransferase gene DOID:1059 intellectual disability ISO RGD:1314369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28492532|PMID:30167849 12214718 ALG3 ALG3 alpha-1,3- mannosyltransferase gene DOID:1826 epilepsy ISO RGD:1314369 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12214718 ALG3 ALG3 alpha-1,3- mannosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1314369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 12214718 ALG3 ALG3 alpha-1,3- mannosyltransferase gene DOID:630 genetic disease ISO RGD:1314369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33583022 12214737 MTX2 metaxin 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1315110 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12214737 MTX2 metaxin 2 gene DOID:11372 megacolon ISO RGD:1315110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12214737 MTX2 metaxin 2 gene DOID:630 genetic disease ISO RGD:1315110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214737 MTX2 metaxin 2 gene DOID:9007744 Mandibuloacral Dysplasia Progeroid Syndrome ISO RGD:1315110 D RGD:7240710 20201223 OMIM 12214737 MTX2 metaxin 2 gene DOID:9007744 Mandibuloacral Dysplasia Progeroid Syndrome ISO RGD:1315110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progeroid mandibuloacral dysplasia PMID:32917887 12214756 TYW5 tRNA-yW synthesizing protein 5 gene DOID:630 genetic disease ISO RGD:1604998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214756 TYW5 tRNA-yW synthesizing protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12214769 LCAT lecithin-cholesterol acyltransferase gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:737383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12214769 LCAT lecithin-cholesterol acyltransferase gene DOID:1168 familial hyperlipidemia ISO RGD:2993 D RGD:9068941 20200609 RGD PMID:12935429|REF_RGD_ID:1581787 12214769 LCAT lecithin-cholesterol acyltransferase gene DOID:1391 Norum disease ISO RGD:737383 D RGD:7240710 20180130 OMIM 12214769 LCAT lecithin-cholesterol acyltransferase gene DOID:1391 Norum disease ISO RGD:737383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: Norum disease PMID:1516702|PMID:15297675|PMID:1571050|PMID:15994445|PMID:1662503|PMID:1681161|PMID:1737840|PMID:17526537|PMID:1859405|PMID:2052566|PMID:21600519|PMID:21875686|PMID:21901787|PMID:22090275|PMID:22189200|PMID:22629316|PMID:22701329|PMID:22923420|PMID:23236364|PMID:2370048|PMID:24503134|PMID:24507774|PMID:24636183|PMID:24715031|PMID:25727495|PMID:25741868|PMID:26195816|PMID:28492532|PMID:28870971|PMID:28983876|PMID:29030428|PMID:29083407|PMID:30333156|PMID:31164121|PMID:32041611|PMID:33816482|PMID:6078131|PMID:6624548|PMID:7613477|PMID:8432868|PMID:8620346|PMID:8675648|PMID:8755645|PMID:9261271|PMID:9541390|PMID:9741700 12214769 LCAT lecithin-cholesterol acyltransferase gene DOID:2349 arteriosclerosis ISO RGD:10859 D RGD:9068941 20200609 RGD PMID:11809774|REF_RGD_ID:1581783 12214769 LCAT lecithin-cholesterol acyltransferase gene DOID:2349 arteriosclerosis susceptibility ISO RGD:737383 D RGD:9068941 20200609 RGD PMID:12673583|REF_RGD_ID:1581779 12214769 LCAT lecithin-cholesterol acyltransferase gene DOID:5844 myocardial infarction ISO RGD:2993 D RGD:9068941 20200609 RGD PMID:16640830|REF_RGD_ID:1581773 12214769 LCAT lecithin-cholesterol acyltransferase gene DOID:630 genetic disease ISO RGD:737383 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12214769 LCAT lecithin-cholesterol acyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:737383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12214769 LCAT lecithin-cholesterol acyltransferase gene DOID:783 end stage renal disease ISO RGD:2993 D RGD:9068941 20200609 RGD PMID:15280162|REF_RGD_ID:1581769 12214769 LCAT lecithin-cholesterol acyltransferase gene DOID:9006599 Hypertriglyceridemia ISO RGD:10859 D RGD:9068941 20200609 RGD PMID:14668345|REF_RGD_ID:1581782 12214779 CCN1 cellular communication network factor 1 gene DOID:0050651 atrioventricular septal defect ISO RGD:731721 D RGD:9068941 20220825 MouseDO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 12214779 CCN1 cellular communication network factor 1 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:731721 D RGD:9068941 20220825 MouseDO OMIM:108800 12214779 CCN1 cellular communication network factor 1 gene DOID:418 systemic scleroderma ISO RGD:731720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27482699 12214779 CCN1 cellular communication network factor 1 gene DOID:630 genetic disease ISO RGD:731720 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214779 CCN1 cellular communication network factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:731720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17699798 12214779 CCN1 cellular communication network factor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:731720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 12214779 CCN1 cellular communication network factor 1 gene DOID:9002457 Experimental Arthritis ameliorates ISO RGD:620763 D RGD:9068941 20210924 RGD PMID:27653023|REF_RGD_ID:150429754 12214779 CCN1 cellular communication network factor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:731720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12214788 MLLT3 MLLT3 super elongation complex subunit gene DOID:630 genetic disease ISO RGD:737507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214788 MLLT3 MLLT3 super elongation complex subunit gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:620940 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23077601|REF_RGD_ID:9686143 12214806 MND1 meiotic nuclear divisions 1 gene DOID:630 genetic disease ISO RGD:1604777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214827 CATSPERG cation channel sperm associated auxiliary subunit gamma gene DOID:630 genetic disease ISO RGD:1322128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214875 COL5A3 collagen type V alpha 3 chain gene DOID:10126 keratoconus ISO RGD:736080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 12214875 COL5A3 collagen type V alpha 3 chain gene DOID:12849 autistic disorder ISO RGD:736080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12214875 COL5A3 collagen type V alpha 3 chain gene DOID:630 genetic disease ISO RGD:736080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214875 COL5A3 collagen type V alpha 3 chain gene DOID:9002304 Prostatic Neoplasms ISO RGD:736080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12214950 TRAK1 trafficking kinesin protein 1 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1604830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 12214950 TRAK1 trafficking kinesin protein 1 gene DOID:0112204 developmental and epileptic encephalopathy 68 ISO RGD:1604830 D RGD:7240710 20190315 OMIM 12214950 TRAK1 trafficking kinesin protein 1 gene DOID:0112204 developmental and epileptic encephalopathy 68 ISO RGD:1604830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 68 PMID:25741868|PMID:28364549|PMID:28492532|PMID:28940097|PMID:29846532 12214950 TRAK1 trafficking kinesin protein 1 gene DOID:13366 Stiff-Person syndrome ISO RGD:1317275 D RGD:9068941 20220825 MouseDO OMIM:184850 12214950 TRAK1 trafficking kinesin protein 1 gene DOID:5419 schizophrenia ISO RGD:1604830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12214950 TRAK1 trafficking kinesin protein 1 gene DOID:630 genetic disease ISO RGD:1604830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12214995 ARHGEF28 Rho guanine nucleotide exchange factor 28 gene DOID:630 genetic disease ISO RGD:6892765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12214995 ARHGEF28 Rho guanine nucleotide exchange factor 28 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:6892765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12215059 CEP85 centrosomal protein 85 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1604312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 12215059 CEP85 centrosomal protein 85 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1604312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12215059 CEP85 centrosomal protein 85 gene DOID:630 genetic disease ISO RGD:1604312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215090 IMP3 IMP U3 small nucleolar ribonucleoprotein 3 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1315660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 12215090 IMP3 IMP U3 small nucleolar ribonucleoprotein 3 gene DOID:1826 epilepsy ISO RGD:1315660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12215090 IMP3 IMP U3 small nucleolar ribonucleoprotein 3 gene DOID:2717 Bloom syndrome ISO RGD:1315660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12215090 IMP3 IMP U3 small nucleolar ribonucleoprotein 3 gene DOID:5419 schizophrenia ISO RGD:1315660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12215090 IMP3 IMP U3 small nucleolar ribonucleoprotein 3 gene DOID:630 genetic disease ISO RGD:1315660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215090 IMP3 IMP U3 small nucleolar ribonucleoprotein 3 gene DOID:9256 colorectal cancer ISO RGD:1315660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12215100 DSCAML1 DS cell adhesion molecule like 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12215100 DSCAML1 DS cell adhesion molecule like 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12215100 DSCAML1 DS cell adhesion molecule like 1 gene DOID:0080690 RASopathy ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12215100 DSCAML1 DS cell adhesion molecule like 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12215100 DSCAML1 DS cell adhesion molecule like 1 gene DOID:0111123 nephronophthisis 15 ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 12215100 DSCAML1 DS cell adhesion molecule like 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12215100 DSCAML1 DS cell adhesion molecule like 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12215100 DSCAML1 DS cell adhesion molecule like 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12215100 DSCAML1 DS cell adhesion molecule like 1 gene DOID:10283 prostate cancer ISO RGD:1312583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12215100 DSCAML1 DS cell adhesion molecule like 1 gene DOID:1059 intellectual disability ISO RGD:1312583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12215100 DSCAML1 DS cell adhesion molecule like 1 gene DOID:630 genetic disease ISO RGD:1312583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:33501714 12215100 DSCAML1 DS cell adhesion molecule like 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1312583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12215100 DSCAML1 DS cell adhesion molecule like 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1312583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12215100 DSCAML1 DS cell adhesion molecule like 1 gene DOID:9007661 Dwarfism ISO RGD:1312583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12215144 EFNA1 ephrin A1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:730990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12215144 EFNA1 ephrin A1 gene DOID:0111940 immunodeficiency 42 ISO RGD:730990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12215144 EFNA1 ephrin A1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:730990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12215144 EFNA1 ephrin A1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:730990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12215144 EFNA1 ephrin A1 gene DOID:1540 parathyroid carcinoma ISO RGD:730990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12215144 EFNA1 ephrin A1 gene DOID:5812 MHC class II deficiency ISO RGD:730990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12215144 EFNA1 ephrin A1 gene DOID:630 genetic disease ISO RGD:730990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215144 EFNA1 ephrin A1 gene DOID:9008939 Breast Neoplasms ISO RGD:730990 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20154726 12215144 EFNA1 ephrin A1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12215165 NUP210L nucleoporin 210 like gene DOID:0070048 GAND syndrome ISO RGD:1344758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 12215165 NUP210L nucleoporin 210 like gene DOID:0111940 immunodeficiency 42 ISO RGD:1344758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12215165 NUP210L nucleoporin 210 like gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12215165 NUP210L nucleoporin 210 like gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 12215165 NUP210L nucleoporin 210 like gene DOID:1540 parathyroid carcinoma ISO RGD:1344758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12215165 NUP210L nucleoporin 210 like gene DOID:5812 MHC class II deficiency ISO RGD:1344758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12215165 NUP210L nucleoporin 210 like gene DOID:630 genetic disease ISO RGD:1344758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215165 NUP210L nucleoporin 210 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12215213 JKAMP JNK1/MAPK8 associated membrane protein gene DOID:630 genetic disease ISO RGD:1318960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215228 STK32C serine/threonine kinase 32C gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1314150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12215228 STK32C serine/threonine kinase 32C gene DOID:630 genetic disease ISO RGD:1314150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215247 FAM170A family with sequence similarity 170 member A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602273 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12215247 FAM170A family with sequence similarity 170 member A gene DOID:630 genetic disease ISO RGD:1602273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215247 FAM170A family with sequence similarity 170 member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12215247 FAM170A family with sequence similarity 170 member A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602273 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12215259 PRRX1 paired related homeobox 1 gene DOID:0060224 atrial fibrillation ISO RGD:1606834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22544366 12215259 PRRX1 paired related homeobox 1 gene DOID:0060341 agnathia-otocephaly complex ISO RGD:1606834 D RGD:7240710 20180130 OMIM 12215259 PRRX1 paired related homeobox 1 gene DOID:0060341 agnathia-otocephaly complex ISO RGD:1606834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agnathia-otocephaly complex PMID:12244557|PMID:21294718|PMID:22211708|PMID:22674740|PMID:23444262|PMID:25741868 12215259 PRRX1 paired related homeobox 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12215259 PRRX1 paired related homeobox 1 gene DOID:3213 demyelinating disease ISO RGD:1606834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30566868 12215259 PRRX1 paired related homeobox 1 gene DOID:630 genetic disease ISO RGD:1606834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215259 PRRX1 paired related homeobox 1 gene DOID:9001031 Retrognathia ISO RGD:1606834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23444262 12215259 PRRX1 paired related homeobox 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 12215259 PRRX1 paired related homeobox 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1606834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12215259 PRRX1 paired related homeobox 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12215273 LOC609540 DDB1- and CUL4-associated factor 12-like protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12215273 LOC609540 DDB1- and CUL4-associated factor 12-like protein 2 gene DOID:12849 autistic disorder ISO RGD:1603495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12215273 LOC609540 DDB1- and CUL4-associated factor 12-like protein 2 gene DOID:630 genetic disease ISO RGD:1603495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215274 DUSP29 dual specificity phosphatase 29 gene DOID:630 genetic disease ISO RGD:1321010 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215274 DUSP29 dual specificity phosphatase 29 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1321010 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 12215284 TMEM254 transmembrane protein 254 gene DOID:630 genetic disease ISO RGD:1313865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215284 TMEM254 transmembrane protein 254 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12215297 AGXT2 alanine--glyoxylate aminotransferase 2 gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:1352542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 12215297 AGXT2 alanine--glyoxylate aminotransferase 2 gene DOID:630 genetic disease ISO RGD:1352542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215297 AGXT2 alanine--glyoxylate aminotransferase 2 gene DOID:655 inherited metabolic disorder ISO RGD:1352542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21572414 12215297 AGXT2 alanine--glyoxylate aminotransferase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12215297 AGXT2 alanine--glyoxylate aminotransferase 2 gene DOID:9008474 Beta-Aminoisobutyric Acid, Urinary Excretion of ISO RGD:1352542 D RGD:7240710 20200304 OMIM 12215297 AGXT2 alanine--glyoxylate aminotransferase 2 gene DOID:9008474 Beta-Aminoisobutyric Acid, Urinary Excretion of ISO RGD:1352542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-aminoisobutyric acid, urinary excretion of PMID:21572414 12215317 SELENOV selenoprotein V gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1603489 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12215317 SELENOV selenoprotein V gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12215317 SELENOV selenoprotein V gene DOID:1342 congenital hypoplastic anemia ISO RGD:1603489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12215317 SELENOV selenoprotein V gene DOID:2340 craniosynostosis ISO RGD:1603489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12215317 SELENOV selenoprotein V gene DOID:630 genetic disease ISO RGD:1603489 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215317 SELENOV selenoprotein V gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1603489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12215317 SELENOV selenoprotein V gene DOID:9269 maple syrup urine disease ISO RGD:1603489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12215317 SELENOV selenoprotein V gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603489 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12215338 OR6AA6 olfactory receptor family 6 subfamily AA member 6 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1342706 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12215338 OR6AA6 olfactory receptor family 6 subfamily AA member 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1342706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12215338 OR6AA6 olfactory receptor family 6 subfamily AA member 6 gene DOID:630 genetic disease ISO RGD:1342706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215338 OR6AA6 olfactory receptor family 6 subfamily AA member 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12215338 OR6AA6 olfactory receptor family 6 subfamily AA member 6 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1342706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 12215338 OR6AA6 olfactory receptor family 6 subfamily AA member 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1342706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12215342 PLLP plasmolipin gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736785 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12215342 PLLP plasmolipin gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736785 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12215342 PLLP plasmolipin gene DOID:1790 malignant mesothelioma ISO RGD:736785 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12215342 PLLP plasmolipin gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12215342 PLLP plasmolipin gene DOID:5419 schizophrenia ISO RGD:736785 D RGD:9068941 20200609 RGD PMID:15334603|REF_RGD_ID:1358792 12215342 PLLP plasmolipin gene DOID:630 genetic disease ISO RGD:736785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215356 IRAG1 inositol 1,4,5-triphosphate receptor associated 1 gene DOID:630 genetic disease ISO RGD:1320377 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215397 MIR21 microRNA mir-21 gene DOID:0040088 autoimmune uveitis ameliorates ISO RGD:1608349 D RGD:9068941 20210205 RGD PMID:31228813|REF_RGD_ID:41404699 12215397 MIR21 microRNA mir-21 gene DOID:0050777 Joubert syndrome ISO RGD:1349265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12215397 MIR21 microRNA mir-21 gene DOID:0060108 brain glioma ISO RGD:1349265 D RGD:9068941 20220630 RGD human cells in mouse model; RNA:increased expression:brain (human) PMID:25059666|REF_RGD_ID:152998875 12215397 MIR21 microRNA mir-21 gene DOID:0080522 thyroid gland anaplastic carcinoma ISO RGD:1349265 D RGD:9068941 20210205 RGD RNA:increased expression:thyroid gland: PMID:20956945|REF_RGD_ID:41404697 12215397 MIR21 microRNA mir-21 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1349265 D RGD:9068941 20210205 RGD RNA:increased expression:liver PMID:26338827|REF_RGD_ID:41404659 12215397 MIR21 microRNA mir-21 gene DOID:0080547 non-alcoholic steatohepatitis ameliorates ISO RGD:1608349 D RGD:9068941 20210205 RGD PMID:26338827|REF_RGD_ID:41404659 12215397 MIR21 microRNA mir-21 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1349265 D RGD:9068941 20200609 RGD miRNA:increased expression:peripheral blood mononuclear cell PMID:29658610|REF_RGD_ID:21081544 12215397 MIR21 microRNA mir-21 gene DOID:10534 stomach cancer ISO RGD:1349265 D RGD:9068941 20220630 RGD RNA:increased expression:blood serum (human) PMID:22638884|REF_RGD_ID:152998900 12215397 MIR21 microRNA mir-21 gene DOID:11166 papillomavirus infectious disease ISO RGD:1349265 D RGD:9068941 20210129 RGD RNA:increased expression:cervical cell PMID:26010154|REF_RGD_ID:41404529 12215397 MIR21 microRNA mir-21 gene DOID:11263 chlamydia ISO RGD:1608349 D RGD:9068941 20210205 RGD associated with asthma;RNA:increased expression:lung PMID:27448447|REF_RGD_ID:41404696 12215397 MIR21 microRNA mir-21 gene DOID:114 heart disease ISO RGD:1349265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29355689 12215397 MIR21 microRNA mir-21 gene DOID:11446 sciatic neuropathy ISO RGD:2325598 D RGD:9068941 20220421 RGD RNA:increased expression:dorsal root ganglion neuron PMID:25484256|REF_RGD_ID:151893491 12215397 MIR21 microRNA mir-21 gene DOID:11516 hypertensive heart disease ISO RGD:1349265 D RGD:9068941 20210205 RGD RNA:increased expression:serum,heart: PMID:32040481|REF_RGD_ID:41404711 12215397 MIR21 microRNA mir-21 gene DOID:11573 listeriosis exacerbates ISO RGD:1608349 D RGD:9068941 20210205 RGD PMID:28589100|REF_RGD_ID:41404664 12215397 MIR21 microRNA mir-21 gene DOID:12205 dengue disease ISO RGD:1349265 D RGD:9068941 20210205 RGD RNA:increased expression:serum: PMID:26941580|REF_RGD_ID:41404658 12215397 MIR21 microRNA mir-21 gene DOID:12236 primary biliary cholangitis severity ISO RGD:1349265 D RGD:9068941 20200609 RGD PMID:28886078|REF_RGD_ID:21408577 12215397 MIR21 microRNA mir-21 gene DOID:1273 respiratory syncytial virus infectious disease ameliorates ISO RGD:1608349 D RGD:9068941 20210205 RGD associated with asthma; PMID:27448447|REF_RGD_ID:41404696 12215397 MIR21 microRNA mir-21 gene DOID:1324 lung cancer ISO RGD:1349265 D RGD:9068941 20220630 RGD RNA:increased expression:blood serum (human) PMID:22638884|REF_RGD_ID:152998900 12215397 MIR21 microRNA mir-21 gene DOID:1324 lung cancer ISO RGD:1608349 D RGD:9068941 20220715 RGD RNA:increased expression:lung (human) PMID:20237410|REF_RGD_ID:152995484 12215397 MIR21 microRNA mir-21 gene DOID:1324 lung cancer ameliorates ISO RGD:1608349 D RGD:9068941 20220701 RGD PMID:22618808|REF_RGD_ID:152998905 12215397 MIR21 microRNA mir-21 gene DOID:1380 endometrial cancer ISO RGD:1349265 D RGD:9068941 20210409 RGD miRNA:increased expression:endometrium PMID:33408517|REF_RGD_ID:126775148 12215397 MIR21 microRNA mir-21 gene DOID:14115 toxic shock syndrome ameliorates ISO RGD:1608349 D RGD:9068941 20210205 RGD PMID:31189875|REF_RGD_ID:41404698 12215397 MIR21 microRNA mir-21 gene DOID:14115 toxic shock syndrome exacerbates ISO RGD:1608349 D RGD:9068941 20210129 RGD PMID:28437377|REF_RGD_ID:41404641 12215397 MIR21 microRNA mir-21 gene DOID:14330 Parkinson's disease ISO RGD:2325598 D RGD:9068941 20210129 RGD RNA:increased expression: plasma extracellular vesicle PMID:32326590|REF_RGD_ID:41404531 12215397 MIR21 microRNA mir-21 gene DOID:1612 breast cancer ISO RGD:1349265 D RGD:9068941 20220630 RGD RNA:increased expression:blood serum (human) PMID:22638884|REF_RGD_ID:152998900 12215397 MIR21 microRNA mir-21 gene DOID:1612 breast cancer ISO RGD:1349265 D RGD:9068941 20220722 RGD RNA:increased expression:peripheral blood mononuclear cell (human) PMID:32104069|REF_RGD_ID:153297766 12215397 MIR21 microRNA mir-21 gene DOID:1612 breast cancer ISO RGD:2325598 D RGD:9068941 20220428 RGD RNA:increased expression:thoracic lymph node PMID:32157513|REF_RGD_ID:152025189 12215397 MIR21 microRNA mir-21 gene DOID:1612 breast cancer severity ISO RGD:1349265 D RGD:9068941 20220630 RGD miRNA:increased expression:breast (human) PMID:18812439|REF_RGD_ID:152998878 12215397 MIR21 microRNA mir-21 gene DOID:1733 cryptosporidiosis ISO RGD:1608349 D RGD:9068941 20210129 RGD RNA:increased expression:ileum PMID:25838265|REF_RGD_ID:40925950 12215397 MIR21 microRNA mir-21 gene DOID:1781 thyroid gland cancer ameliorates ISO RGD:2325598 D RGD:9068941 20210205 RGD PMID:20956945|REF_RGD_ID:41404697 12215397 MIR21 microRNA mir-21 gene DOID:1824 status epilepticus ISO RGD:2325598 D RGD:9068941 20210205 RGD RNA:increased expression: hippocampus PMID:22019057|REF_RGD_ID:41404707 12215397 MIR21 microRNA mir-21 gene DOID:1824 status epilepticus ameliorates ISO RGD:2325598 D RGD:9068941 20210205 RGD PMID:29751355|REF_RGD_ID:41404714 12215397 MIR21 microRNA mir-21 gene DOID:1883 hepatitis C ISO RGD:1349265 D RGD:9068941 20210205 RGD RNA:increased expression:liver PMID:30938910|REF_RGD_ID:41404662 12215397 MIR21 microRNA mir-21 gene DOID:1883 hepatitis C disease_progression ISO RGD:1349265 D RGD:9068941 20210205 RGD PMID:20625373|REF_RGD_ID:41404667 12215397 MIR21 microRNA mir-21 gene DOID:1936 atherosclerosis severity ISO RGD:1349265 D RGD:9068941 20200609 RGD miRNA:increased expression:peripheral blood mononuclear cell, plasma PMID:31866771|REF_RGD_ID:21081515 12215397 MIR21 microRNA mir-21 gene DOID:219 colon cancer ISO RGD:1349265 D RGD:9068941 20220722 RGD RNA:increased expression:peripheral blood mononuclear cell (human) PMID:32104069|REF_RGD_ID:153297766 12215397 MIR21 microRNA mir-21 gene DOID:219 colon cancer disease_progression ISO RGD:1349265 D RGD:9068941 20220630 RGD RNA:increased expression:colon (human) PMID:27798874|REF_RGD_ID:152995486 12215397 MIR21 microRNA mir-21 gene DOID:2568 cervicitis ISO RGD:1349265 D RGD:9068941 20210129 RGD RNA:increased expression:cervical cell PMID:26010154|REF_RGD_ID:41404529 12215397 MIR21 microRNA mir-21 gene DOID:2876 laryngeal squamous cell carcinoma exacerbates ISO RGD:1349265 D RGD:9068941 20220825 RGD miRNA:increased expression:blood serum (human) PMID:35117730|REF_RGD_ID:153344530 12215397 MIR21 microRNA mir-21 gene DOID:289 endometriosis ISO RGD:1349265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12215397 MIR21 microRNA mir-21 gene DOID:3042 allergic contact dermatitis treatment ISO RGD:2325598 D RGD:9068941 20210205 RGD PMID:29282578|REF_RGD_ID:41404666 12215397 MIR21 microRNA mir-21 gene DOID:3068 glioblastoma ameliorates ISO RGD:2325598 D RGD:9068941 20210129 RGD PMID:31730913|REF_RGD_ID:41404645 12215397 MIR21 microRNA mir-21 gene DOID:3178 skin papilloma ameliorates ISO RGD:1608349 D RGD:9068941 20210205 RGD PMID:21646541|REF_RGD_ID:41404663 12215397 MIR21 microRNA mir-21 gene DOID:3393 coronary artery disease ISO RGD:1349265 D RGD:9068941 20200609 RGD miRNA:increased expression:peripheral blood mononuclear cell, plasma PMID:31866771|REF_RGD_ID:21081515 12215397 MIR21 microRNA mir-21 gene DOID:3393 coronary artery disease ISO RGD:1349265 D RGD:9068941 20230202 RGD miRNA:increased expression:blood plasma (human) PMID:25728840|REF_RGD_ID:11056497 12215397 MIR21 microRNA mir-21 gene DOID:3526 cerebral infarction ISO RGD:2325598 D RGD:9068941 20210219 RGD RNA:increased expression:brain PMID:20840605|REF_RGD_ID:41410884 12215397 MIR21 microRNA mir-21 gene DOID:3744 cervical squamous cell carcinoma ISO RGD:1349265 D RGD:9068941 20210129 RGD RNA:increased expression:cervical cell PMID:26010154|REF_RGD_ID:41404529 12215397 MIR21 microRNA mir-21 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:2325598 D RGD:9068941 20210205 RGD PMID:29084974|REF_RGD_ID:41404715 12215397 MIR21 microRNA mir-21 gene DOID:3905 lung carcinoma ISO RGD:1608349 D RGD:9068941 20210205 RGD RNA:increased expression:lung: PMID:20956945|REF_RGD_ID:41404697 12215397 MIR21 microRNA mir-21 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1349265 D RGD:9068941 20220630 RGD RNA:increased expression:blood serum (human) PMID:25477028|REF_RGD_ID:152998899 12215397 MIR21 microRNA mir-21 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1349265 D RGD:9068941 20220630 RGD RNA:increased expression:lung (human) PMID:22956424|PMID:33467964|REF_RGD_ID:152998886|REF_RGD_ID:152998889 12215397 MIR21 microRNA mir-21 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1349265 D RGD:9068941 20210205 RGD PMID:20956945|REF_RGD_ID:41404697 12215397 MIR21 microRNA mir-21 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1349265 D RGD:9068941 20220630 RGD RNA:increased expression:blood serum (human) PMID:26880855|REF_RGD_ID:152998885 12215397 MIR21 microRNA mir-21 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1349265 D RGD:9068941 20220630 RGD RNA:increased expression:lung (human) PMID:20223231|REF_RGD_ID:152998901 12215397 MIR21 microRNA mir-21 gene DOID:3910 lung adenocarcinoma ISO RGD:1608349 D RGD:9068941 20220708 RGD miRNA:increased expression:sputum (human) PMID:27777637|REF_RGD_ID:152998954 12215397 MIR21 microRNA mir-21 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1349265 D RGD:9068941 20220630 RGD RNA:increased expression:lung (human) PMID:29892003|REF_RGD_ID:152998892 12215397 MIR21 microRNA mir-21 gene DOID:4362 cervical cancer severity ISO RGD:1349265 D RGD:9068941 20210129 RGD PMID:32256824|REF_RGD_ID:40925949 12215397 MIR21 microRNA mir-21 gene DOID:4914 esophagus adenocarcinoma disease_progression ISO RGD:1349265 D RGD:9068941 20210205 RGD PMID:26481465|REF_RGD_ID:41404702 12215397 MIR21 microRNA mir-21 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:1349265 D RGD:9068941 20200609 RGD RNA:increased expression:liver,plasma PMID:27685844|REF_RGD_ID:14928335 12215397 MIR21 microRNA mir-21 gene DOID:4947 cholangiocarcinoma ISO RGD:1349265 D RGD:9068941 20210205 RGD RNA:increased expression:urine PMID:26456596|REF_RGD_ID:41404678 12215397 MIR21 microRNA mir-21 gene DOID:5041 esophageal cancer ISO RGD:1349265 D RGD:9068941 20220630 RGD RNA:increased expression:blood serum (human) PMID:22638884|REF_RGD_ID:152998900 12215397 MIR21 microRNA mir-21 gene DOID:5041 esophageal cancer ISO RGD:1349265 D RGD:9068941 20220630 RGD RNA:increased expression:esophagus (human) PMID:27188433|REF_RGD_ID:152995510 12215397 MIR21 microRNA mir-21 gene DOID:5082 liver cirrhosis ameliorates ISO RGD:1608349 D RGD:9068941 20210129 RGD PMID:26946098|REF_RGD_ID:40925947 12215397 MIR21 microRNA mir-21 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1349265 D RGD:9068941 20210205 RGD associated with chronic hepatitis B PMID:30147020|REF_RGD_ID:41404701 12215397 MIR21 microRNA mir-21 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1608349 D RGD:9068941 20210205 RGD PMID:20625373|REF_RGD_ID:41404667 12215397 MIR21 microRNA mir-21 gene DOID:5082 liver cirrhosis onset ISO RGD:2325598 D RGD:9068941 20200609 RGD associated with nonalcoholic fatty liver disease;miRNA:increased expression:liver, plasma PMID:27320964|REF_RGD_ID:14695024 12215397 MIR21 microRNA mir-21 gene DOID:5082 liver cirrhosis treatment ISO RGD:2325598 D RGD:9068941 20210205 RGD PMID:30419452|REF_RGD_ID:41404717 12215397 MIR21 microRNA mir-21 gene DOID:5386 lung adenoma ISO RGD:1608349 D RGD:9068941 20210205 RGD RNA:increased expression:lung: PMID:20956945|REF_RGD_ID:41404697 12215397 MIR21 microRNA mir-21 gene DOID:557 kidney disease ISO RGD:1349265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23469132 12215397 MIR21 microRNA mir-21 gene DOID:6000 congestive heart failure ISO RGD:1349265 D RGD:9068941 20210205 RGD RNA:increased expression:left ventricular myocardium PMID:19043405|REF_RGD_ID:41404712 12215397 MIR21 microRNA mir-21 gene DOID:6000 congestive heart failure ISO RGD:1349265 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12215397 MIR21 microRNA mir-21 gene DOID:6000 congestive heart failure ISO RGD:2325598 D RGD:9068941 20210205 RGD RNA:increased expression:heart, myofibroblast: PMID:19043405|REF_RGD_ID:41404712 12215397 MIR21 microRNA mir-21 gene DOID:6000 congestive heart failure disease_progression ISO RGD:1608349 D RGD:9068941 20210205 RGD PMID:19043405|REF_RGD_ID:41404712 12215397 MIR21 microRNA mir-21 gene DOID:6000 congestive heart failure treatment ISO RGD:1608349 D RGD:9068941 20210205 RGD PMID:19043405|REF_RGD_ID:41404712 12215397 MIR21 microRNA mir-21 gene DOID:6432 pulmonary hypertension ISO RGD:2325598 D RGD:9068941 20210219 RGD RNA:increased expression:lung PMID:32402408|REF_RGD_ID:41410883 12215397 MIR21 microRNA mir-21 gene DOID:684 hepatocellular carcinoma ISO RGD:1349265 D RGD:9068941 20200609 RGD miRNA:increased expression:liver PMID:20447717|REF_RGD_ID:14695022 12215397 MIR21 microRNA mir-21 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1349265 D RGD:9068941 20210129 RGD PMID:24963487|REF_RGD_ID:40925952 12215397 MIR21 microRNA mir-21 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1349265 D RGD:9068941 20210129 RGD PMID:21749846|REF_RGD_ID:41404642 12215397 MIR21 microRNA mir-21 gene DOID:687 hepatoblastoma ISO RGD:1349265 D RGD:9068941 20200609 RGD miRNA:increased expression:plasma, extracellular exosome PMID:27601233|REF_RGD_ID:14695023 12215397 MIR21 microRNA mir-21 gene DOID:8283 peritonitis ISO RGD:1608349 D RGD:9068941 20210129 RGD PMID:26382295|REF_RGD_ID:11342022 12215397 MIR21 microRNA mir-21 gene DOID:8437 intestinal obstruction ISO RGD:1349265 D RGD:9068941 20210205 RGD RNA:increased expression:colon PMID:23826144|REF_RGD_ID:41404691 12215397 MIR21 microRNA mir-21 gene DOID:8469 influenza ameliorates ISO RGD:1608349 D RGD:9068941 20210205 RGD associated with asthma; PMID:27448447|REF_RGD_ID:41404696 12215397 MIR21 microRNA mir-21 gene DOID:8584 Burkitt lymphoma treatment ISO RGD:1349265 D RGD:9068941 20210129 RGD PMID:27991481|REF_RGD_ID:41404643 12215397 MIR21 microRNA mir-21 gene DOID:8778 Crohn's disease ISO RGD:1349265 D RGD:9068941 20210129 RGD RNA:increased expression:leukocyte PMID:25144570|REF_RGD_ID:41404530 12215397 MIR21 microRNA mir-21 gene DOID:8923 skin melanoma disease_progression ISO RGD:1349265 D RGD:9068941 20220630 RGD RNA:increased expression:skin (human) PMID:26150475|REF_RGD_ID:11342032 12215397 MIR21 microRNA mir-21 gene DOID:8947 diabetic retinopathy ISO RGD:2325598 D RGD:9068941 20210219 RGD RNA:increased expression:retina PMID:31759996|REF_RGD_ID:41410819 12215397 MIR21 microRNA mir-21 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1349265 D RGD:9068941 20210129 RGD RNA:increased expression:cervical cell PMID:26010154|REF_RGD_ID:41404529 12215397 MIR21 microRNA mir-21 gene DOID:9000027 Microsatellite Instability ISO RGD:1349265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 12215397 MIR21 microRNA mir-21 gene DOID:9000039 Spinal Cord Injuries exacerbates ISO RGD:2325598 D RGD:9068941 20210219 RGD PMID:31102912|REF_RGD_ID:41410823 12215397 MIR21 microRNA mir-21 gene DOID:9000099 Experimental Colitis ameliorates ISO RGD:1608349 D RGD:9068941 20210205 RGD PMID:23826144|REF_RGD_ID:41404691 12215397 MIR21 microRNA mir-21 gene DOID:9000109 Haemophilus Infections ameliorates ISO RGD:1608349 D RGD:9068941 20210205 RGD associated with asthma; PMID:27448447|REF_RGD_ID:41404696 12215397 MIR21 microRNA mir-21 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1349265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21248297 12215397 MIR21 microRNA mir-21 gene DOID:9000469 Viral Myocarditis ameliorates ISO RGD:1608349 D RGD:9068941 20210205 RGD associated with Coxsackievirus Infections PMID:23544605|PMID:23588407|REF_RGD_ID:41404640|REF_RGD_ID:41404700 12215397 MIR21 microRNA mir-21 gene DOID:9000483 Angina Pectoris ISO RGD:1349265 D RGD:9068941 20200609 RGD miRNA:increased expression:peripheral blood mononuclear cell, plasma PMID:31866771|REF_RGD_ID:21081515 12215397 MIR21 microRNA mir-21 gene DOID:9000784 Fibrosis ISO RGD:1349265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23469132 12215397 MIR21 microRNA mir-21 gene DOID:9000918 Disease Progression ISO RGD:1349265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27816459 12215397 MIR21 microRNA mir-21 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349265 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26101800 12215397 MIR21 microRNA mir-21 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1349265 D RGD:9068941 20220630 RGD human cells in mouse model;associated with breast cancer PMID:18270520|REF_RGD_ID:152998897 12215397 MIR21 microRNA mir-21 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1349265 D RGD:9068941 20220630 RGD associated with prostate carcinoma; human cells in mouse model PMID:32736696|REF_RGD_ID:152998873 12215397 MIR21 microRNA mir-21 gene DOID:9001724 Fusobacterium Infections severity ISO RGD:1349265 D RGD:9068941 20210129 RGD associated with colorectal cancer PMID:27876571|REF_RGD_ID:40925941 12215397 MIR21 microRNA mir-21 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2325598 D RGD:9068941 20210219 RGD RNA:increased expression:liver PMID:29187695|REF_RGD_ID:41410824 12215397 MIR21 microRNA mir-21 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2325598 D RGD:9068941 20210219 RGD RNA:increased expression:kidney PMID:30847937|REF_RGD_ID:41410820 12215397 MIR21 microRNA mir-21 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23272133 12215397 MIR21 microRNA mir-21 gene DOID:9002312 Atrial Remodeling treatment ISO RGD:2325598 D RGD:9068941 20210205 RGD PMID:30203914|REF_RGD_ID:41404716 12215397 MIR21 microRNA mir-21 gene DOID:9002488 Peritoneal Fibrosis ISO RGD:2325598 D RGD:9068941 20210129 RGD RNA:increased expression:peritoneal fluid,tissue PMID:30515805|REF_RGD_ID:40925948 12215397 MIR21 microRNA mir-21 gene DOID:9003936 Cardiomegaly ISO RGD:1349265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17525252 12215397 MIR21 microRNA mir-21 gene DOID:9003936 Cardiomegaly ISO RGD:1608349 D RGD:9068941 20210205 RGD RNA:increased expression:heart: PMID:32040481|REF_RGD_ID:41404711 12215397 MIR21 microRNA mir-21 gene DOID:9004237 Hyperoxic Lung Injury ameliorates ISO RGD:2325598 D RGD:9068941 20210205 RGD PMID:31537223|REF_RGD_ID:41404709 12215397 MIR21 microRNA mir-21 gene DOID:9004237 Hyperoxic Lung Injury exacerbates ISO RGD:2325598 D RGD:9068941 20210205 RGD PMID:28627345|REF_RGD_ID:41404708 12215397 MIR21 microRNA mir-21 gene DOID:9004272 Varicose Ulcer ISO RGD:1349265 D RGD:9068941 20200609 RGD miRNA:increased expression:skin: PMID:22773832|REF_RGD_ID:10412021 12215397 MIR21 microRNA mir-21 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1349265 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26101800|PMID:29501572 12215397 MIR21 microRNA mir-21 gene DOID:9004610 Acute Lung Injury ISO RGD:2325598 D RGD:9068941 20210219 RGD RNA:increased expression:lung PMID:30542412|REF_RGD_ID:41410885 12215397 MIR21 microRNA mir-21 gene DOID:9004657 Weight Gain ISO RGD:1608349 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26996129 12215397 MIR21 microRNA mir-21 gene DOID:9005172 Lung Neoplasms ISO RGD:1349265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27323401 12215397 MIR21 microRNA mir-21 gene DOID:9005372 Inflammation ISO RGD:1349265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29355689 12215397 MIR21 microRNA mir-21 gene DOID:9005837 Cholangiofibrosis ISO RGD:1349265 D RGD:9068941 20210205 RGD RNA:increased expression:urine PMID:26456596|REF_RGD_ID:41404678 12215397 MIR21 microRNA mir-21 gene DOID:9007325 Cardio-Renal Syndrome ameliorates ISO RGD:2325598 D RGD:9068941 20210219 RGD PMID:28760335|REF_RGD_ID:41410821 12215397 MIR21 microRNA mir-21 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12215397 MIR21 microRNA mir-21 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1349265 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:26101800|PMID:27323401|PMID:27344173|PMID:28881718|PMID:29501572 12215397 MIR21 microRNA mir-21 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:2325598 D RGD:9068941 20210219 RGD PMID:30309483|REF_RGD_ID:41410822 12215397 MIR21 microRNA mir-21 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1349265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12215397 MIR21 microRNA mir-21 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2325598 D RGD:9068941 20230128 RGD miRNA:increased expression:heart (rat) PMID:19380620|REF_RGD_ID:155882541 12215397 MIR21 microRNA mir-21 gene DOID:9007838 Myocardial Reperfusion Injury exacerbates ISO RGD:1608349 D RGD:9068941 20210205 RGD PMID:24825878|REF_RGD_ID:41404665 12215397 MIR21 microRNA mir-21 gene DOID:9008510 Chronic Hepatitis ISO RGD:1349265 D RGD:9068941 20210129 RGD RNA:increased expression:plasma PMID:21749846|REF_RGD_ID:41404642 12215397 MIR21 microRNA mir-21 gene DOID:9146 visceral leishmaniasis treatment ISO RGD:1608349 D RGD:9068941 20210129 RGD PMID:31608064|REF_RGD_ID:40925951 12215397 MIR21 microRNA mir-21 gene DOID:9256 colorectal cancer ISO RGD:1349265 D RGD:9068941 20210129 RGD RNA:increased expression:colorectum PMID:27876571|REF_RGD_ID:40925941 12215397 MIR21 microRNA mir-21 gene DOID:9256 colorectal cancer ISO RGD:1349265 D RGD:9068941 20220630 RGD RNA:increased expression:blood serum (human) PMID:22638884|REF_RGD_ID:152998900 12215397 MIR21 microRNA mir-21 gene DOID:9256 colorectal cancer ISO RGD:1349265 D RGD:9068941 20220728 RGD RNA:increased expression:colorectum (human) PMID:29928882|REF_RGD_ID:153297812 12215397 MIR21 microRNA mir-21 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1608349 D RGD:9068941 20210129 RGD associated with Fusobacterium Infections PMID:27876571|REF_RGD_ID:40925941 12215397 MIR21 microRNA mir-21 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1349265 D RGD:9068941 20220630 RGD RNA:increased expression:colorectum (human) PMID:19921579|REF_RGD_ID:152995509 12215397 MIR21 microRNA mir-21 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1349265 D RGD:9068941 20220630 RGD RNA:increased expression:colorectum (human) PMID:26957558|REF_RGD_ID:152995497 12215397 MIR21 microRNA mir-21 gene DOID:9256 colorectal cancer severity ISO RGD:1349265 D RGD:9068941 20220630 RGD RNA:increased expression:colorectum (human) PMID:26419959|REF_RGD_ID:11538337 12215397 MIR21 microRNA mir-21 gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:1608349 D RGD:9068941 20220630 RGD RNA:increased expression:colorectum, blood serum (human) PMID:29552756|REF_RGD_ID:152995508 12215397 MIR21 microRNA mir-21 gene DOID:9408 acute myocardial infarction ISO RGD:1349265 D RGD:9068941 20200609 RGD miRNA:increased expression:peripheral blood mononuclear cell, plasma PMID:31866771|REF_RGD_ID:21081515 12215397 MIR21 microRNA mir-21 gene DOID:9778 irritable bowel syndrome ISO RGD:1349265 D RGD:9068941 20210205 RGD RNA:increased expression:colon PMID:23826144|REF_RGD_ID:41404691 12215397 MIR21 microRNA mir-21 gene DOID:9970 obesity ISO RGD:1349265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23954404 12215438 INSL5 insulin like 5 gene DOID:1059 intellectual disability ISO RGD:1350939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12215438 INSL5 insulin like 5 gene DOID:630 genetic disease ISO RGD:1350939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215478 SELP selectin P gene DOID:0060180 colitis ISO RGD:3656 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:19147805|REF_RGD_ID:2312310 12215478 SELP selectin P gene DOID:0060903 thrombosis ISO RGD:737162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10544909 12215478 SELP selectin P gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:3656 D RGD:9068941 20200609 RGD PMID:19451746|REF_RGD_ID:2312307 12215478 SELP selectin P gene DOID:0112313 brain small vessel disease ISO RGD:737162 D RGD:9068941 20200609 RGD protein:increased expression:platelet PMID:20885295|REF_RGD_ID:6296592 12215478 SELP selectin P gene DOID:10247 pleurisy ISO RGD:734150 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21147071|REF_RGD_ID:6219005 12215478 SELP selectin P gene DOID:10247 pleurisy ISO RGD:737162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422 12215478 SELP selectin P gene DOID:10652 Alzheimer's disease severity ISO RGD:737162 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:21484243|REF_RGD_ID:5685677 12215478 SELP selectin P gene DOID:10763 hypertension ISO RGD:737162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15513305 12215478 SELP selectin P gene DOID:10923 sickle cell anemia ISO RGD:734150 D RGD:9068941 20200609 RGD PMID:21071696|REF_RGD_ID:6219007 12215478 SELP selectin P gene DOID:1205 allergic disease ISO RGD:737162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12929084 12215478 SELP selectin P gene DOID:12894 Sjogren's syndrome ISO RGD:737162 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19832990|REF_RGD_ID:6478702 12215478 SELP selectin P gene DOID:13378 Kawasaki disease ISO RGD:737162 D RGD:9068941 20200609 RGD PMID:20079717|REF_RGD_ID:6478695 12215478 SELP selectin P gene DOID:1540 parathyroid carcinoma ISO RGD:737162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12215478 SELP selectin P gene DOID:1596 depressive disorder ISO RGD:737162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25451969 12215478 SELP selectin P gene DOID:1936 atherosclerosis ISO RGD:3656 D RGD:9068941 20200609 RGD PMID:22340239|REF_RGD_ID:6480102 12215478 SELP selectin P gene DOID:1936 atherosclerosis ISO RGD:734150 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:19834105|REF_RGD_ID:6478699 12215478 SELP selectin P gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:737162 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20646456|REF_RGD_ID:6478682 12215478 SELP selectin P gene DOID:326 ischemia ISO RGD:734150 D RGD:9068941 20200609 RGD PMID:21885854|REF_RGD_ID:6218989 12215478 SELP selectin P gene DOID:3310 atopic dermatitis ISO RGD:737162 D RGD:9068941 20200609 RGD atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:point_mutation:CDS:amino acid Val640Leu PMID:12929084|REF_RGD_ID:1599904 12215478 SELP selectin P gene DOID:3393 coronary artery disease ISO RGD:737162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature coronary artery atherosclerosis 12215478 SELP selectin P gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:3656 D RGD:9068941 20200609 RGD PMID:21894146|REF_RGD_ID:6218988 12215478 SELP selectin P gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737162 D RGD:9068941 20200609 RGD PMID:22156911|REF_RGD_ID:6218986 12215478 SELP selectin P gene DOID:5844 myocardial infarction ISO RGD:3656 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21567088|REF_RGD_ID:6218991 12215478 SELP selectin P gene DOID:5844 myocardial infarction ISO RGD:737162 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes:cds:p.S290N, p.N562D, p.T715P (human) PMID:12165563|REF_RGD_ID:1580075 12215478 SELP selectin P gene DOID:5844 myocardial infarction ISO RGD:737162 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21162967|REF_RGD_ID:6219003 12215478 SELP selectin P gene DOID:5844 myocardial infarction susceptibility ISO RGD:737162 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:plasma PMID:17391113|REF_RGD_ID:2312304 12215478 SELP selectin P gene DOID:6000 congestive heart failure ISO RGD:3656 D RGD:9068941 20200609 RGD PMID:19193626|REF_RGD_ID:2312309 12215478 SELP selectin P gene DOID:630 genetic disease ISO RGD:737162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215478 SELP selectin P gene DOID:676 juvenile rheumatoid arthritis severity ISO RGD:737162 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21124648|REF_RGD_ID:6219006 12215478 SELP selectin P gene DOID:8577 ulcerative colitis ISO RGD:737162 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21526498|REF_RGD_ID:6218993 12215478 SELP selectin P gene DOID:8805 intermediate coronary syndrome ISO RGD:737162 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21162967|REF_RGD_ID:6219003 12215478 SELP selectin P gene DOID:9000528 Coronary Disease ISO RGD:737162 D RGD:9068941 20200609 RGD protein:altered expression:serum PMID:11597943|REF_RGD_ID:1580074 12215478 SELP selectin P gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:737162 D RGD:9068941 20200609 RGD atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:point_mutation:CDS:amino acid Val640Leu PMID:12929084|REF_RGD_ID:1599904 12215478 SELP selectin P gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3656 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow PMID:19333758|REF_RGD_ID:2312308 12215478 SELP selectin P gene DOID:9002165 Diabetic Nephropathies ISO RGD:3656 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney, serum PMID:18471420|REF_RGD_ID:2312294 12215478 SELP selectin P gene DOID:9002165 Diabetic Nephropathies severity ISO RGD:737162 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:18026823|REF_RGD_ID:2312302 12215478 SELP selectin P gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:737162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25451969 12215478 SELP selectin P gene DOID:9002514 Neointima treatment ISO RGD:3656 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:12377736|REF_RGD_ID:729766 12215478 SELP selectin P gene DOID:9002850 Immediate Hypersensitivity ISO RGD:737162 D RGD:9068941 20200609 RGD atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:point_mutation:CDS:amino acid Val640Leu PMID:12929084|REF_RGD_ID:1599904 12215478 SELP selectin P gene DOID:9003505 Venous Thromboembolism ISO RGD:737162 D RGD:9068941 20200609 RGD associated with HIV Infections;protein:increased expression:plasma PMID:21412059|REF_RGD_ID:6219001 12215478 SELP selectin P gene DOID:9004009 Reperfusion Injury ISO RGD:3656 D RGD:9068941 20200609 RGD PMID:18521901|REF_RGD_ID:2312314 12215478 SELP selectin P gene DOID:9004009 Reperfusion Injury ISO RGD:734150 D RGD:9068941 20200609 RGD PMID:21701413|REF_RGD_ID:6218990 12215478 SELP selectin P gene DOID:9004484 Sepsis ISO RGD:734150 D RGD:9068941 20200609 RGD protein:increased expression:multiple PMID:20690979|REF_RGD_ID:6478679 12215478 SELP selectin P gene DOID:9005125 Lupus Vasculitis, Central Nervous System ISO RGD:737162 D RGD:9068941 20200609 RGD PMID:20179168|REF_RGD_ID:6478687 12215478 SELP selectin P gene DOID:9005372 Inflammation ISO RGD:734150 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix, vagina PMID:22391529|REF_RGD_ID:6480101 12215478 SELP selectin P gene DOID:9006262 Cytomegalovirus Infections ISO RGD:734150 D RGD:9068941 20200609 RGD PMID:21457388|REF_RGD_ID:6219000 12215478 SELP selectin P gene DOID:9006646 Metabolic Syndrome ISO RGD:737162 D RGD:9068941 20200609 RGD PMID:19061719|REF_RGD_ID:2312292 12215478 SELP selectin P gene DOID:9006709 Primary Graft Dysfunction ISO RGD:737162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 12215478 SELP selectin P gene DOID:9007096 Stroke ISO RGD:734150 D RGD:9068941 20200609 RGD PMID:20122276|REF_RGD_ID:6478688 12215478 SELP selectin P gene DOID:9007102 Myocardial Ischemia ISO RGD:737162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12215478 SELP selectin P gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:737162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12215478 SELP selectin P gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3656 D RGD:9068941 20200609 RGD PMID:21146547|REF_RGD_ID:6480105 12215478 SELP selectin P gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:737162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12087064 12215478 SELP selectin P gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12215478 SELP selectin P gene DOID:9352 type 2 diabetes mellitus ISO RGD:737162 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17598012|REF_RGD_ID:2312303 12215478 SELP selectin P gene DOID:9970 obesity ISO RGD:737162 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:altered localization:platelet PMID:19228864|REF_RGD_ID:2312291 12215508 PLA2G1B phospholipase A2 group IB gene DOID:630 genetic disease ISO RGD:735909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215508 PLA2G1B phospholipase A2 group IB gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:62242 D RGD:9068941 20200609 RGD PMID:12376327|REF_RGD_ID:1302550 12215516 XRCC6 X-ray repair cross complementing 6 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:732846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12215516 XRCC6 X-ray repair cross complementing 6 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:732846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 12215516 XRCC6 X-ray repair cross complementing 6 gene DOID:1749 squamous cell carcinoma ISO RGD:732846 D RGD:9068941 20200609 RGD protein:increased expression:epidermal cell, squamous cell of epidermis (human) PMID:16497868|REF_RGD_ID:8698657 12215516 XRCC6 X-ray repair cross complementing 6 gene DOID:2513 basal cell carcinoma ISO RGD:732846 D RGD:9068941 20200609 RGD protein:increased expression:epidermal cell, basal cell of epidermis (human) PMID:16497868|REF_RGD_ID:8698657 12215516 XRCC6 X-ray repair cross complementing 6 gene DOID:3910 lung adenocarcinoma ISO RGD:732846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12215516 XRCC6 X-ray repair cross complementing 6 gene DOID:630 genetic disease ISO RGD:732846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215516 XRCC6 X-ray repair cross complementing 6 gene DOID:9006205 Animal Disease Models ISO RGD:732846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12215536 NELFE negative elongation factor complex member E gene DOID:0050553 JMP syndrome ISO RGD:1344973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12215536 NELFE negative elongation factor complex member E gene DOID:0111414 trichohepatoenteric syndrome ISO RGD:1344973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome 12215536 NELFE negative elongation factor complex member E gene DOID:630 genetic disease ISO RGD:1344973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215556 GPM6A glycoprotein M6A gene DOID:630 genetic disease ISO RGD:736321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215556 GPM6A glycoprotein M6A gene DOID:684 hepatocellular carcinoma ISO RGD:736321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12215556 GPM6A glycoprotein M6A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12215567 FAM162A family with sequence similarity 162 member A gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1603057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12215567 FAM162A family with sequence similarity 162 member A gene DOID:630 genetic disease ISO RGD:1603057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215567 FAM162A family with sequence similarity 162 member A gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1603057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12215567 FAM162A family with sequence similarity 162 member A gene DOID:9270 alkaptonuria ISO RGD:1603057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12215576 SERPINC1 serpin family C member 1 gene DOID:0060903 thrombosis ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11132655|PMID:2133253|PMID:6889048|PMID:8967151 12215576 SERPINC1 serpin family C member 1 gene DOID:0060903 thrombosis ISO RGD:1316583 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.F229L (human) PMID:12595305|REF_RGD_ID:1580119 12215576 SERPINC1 serpin family C member 1 gene DOID:0060903 thrombosis treatment ISO RGD:1307404 D RGD:9068941 20200609 RGD PMID:17293494|REF_RGD_ID:11035267 12215576 SERPINC1 serpin family C member 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1316583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:21264449|PMID:23932013|PMID:25298121|PMID:28492532 12215576 SERPINC1 serpin family C member 1 gene DOID:10159 osteonecrosis ISO RGD:1316583 D RGD:9068941 20200625 RGD associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) PMID:16547717|PMID:16677567|REF_RGD_ID:30309948|REF_RGD_ID:30309951 12215576 SERPINC1 serpin family C member 1 gene DOID:11247 disseminated intravascular coagulation ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:6233579|PMID:8810955|PMID:9637888 12215576 SERPINC1 serpin family C member 1 gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:2679067|REF_RGD_ID:11035251 12215576 SERPINC1 serpin family C member 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8810955 12215576 SERPINC1 serpin family C member 1 gene DOID:1168 familial hyperlipidemia ISO RGD:1307404 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17283885|REF_RGD_ID:11035268 12215576 SERPINC1 serpin family C member 1 gene DOID:1184 nephrotic syndrome ISO RGD:1307404 D RGD:9068941 20200609 RGD PMID:7532794|REF_RGD_ID:11035294 12215576 SERPINC1 serpin family C member 1 gene DOID:1184 nephrotic syndrome ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11304663 12215576 SERPINC1 serpin family C member 1 gene DOID:1184 nephrotic syndrome disease_progression ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:8979144|REF_RGD_ID:11038563 12215576 SERPINC1 serpin family C member 1 gene DOID:1247 blood coagulation disease ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:62897 12215576 SERPINC1 serpin family C member 1 gene DOID:14115 toxic shock syndrome treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:16732381|REF_RGD_ID:1599323 12215576 SERPINC1 serpin family C member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1316583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12215576 SERPINC1 serpin family C member 1 gene DOID:2213 hemorrhagic disease ISO RGD:1316583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:12907439|PMID:1906811|PMID:19277409|PMID:2012760|PMID:20683322|PMID:23329010|PMID:24055113|PMID:25341889|PMID:25637381|PMID:25741868|PMID:28317092|PMID:28492532|PMID:29902631|PMID:8664906|PMID:9493570 12215576 SERPINC1 serpin family C member 1 gene DOID:2394 ovarian cancer ISO RGD:1307404 D RGD:9068941 20200609 RGD PMID:22818854|REF_RGD_ID:11035257 12215576 SERPINC1 serpin family C member 1 gene DOID:3021 acute kidney failure ISO RGD:1316583 D RGD:9068941 20200609 RGD associated with heart failure; protein:decreased activity:plasma: PMID:26108065|REF_RGD_ID:11354006 12215576 SERPINC1 serpin family C member 1 gene DOID:3755 antithrombin III deficiency ISO RGD:1316583 D RGD:7240710 20180130 OMIM 12215576 SERPINC1 serpin family C member 1 gene DOID:3755 antithrombin III deficiency ISO RGD:1316583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency PMID:10361121|PMID:11192751|PMID:11307839|PMID:11686319|PMID:11713457|PMID:12399451|PMID:12591924|PMID:12907439|PMID:1325679|PMID:1360174|PMID:1421387|PMID:14347873|PMID:1469094|PMID:14754620|PMID:1483705|PMID:1483709|PMID:15164384|PMID:1536946|PMID:1551681|PMID:1555650|PMID:16268490|PMID:16620552|PMID:16705712|PMID:17576681|PMID:17849067|PMID:1868237|PMID:1873224|PMID:18954896|PMID:1906811|PMID:19277409|PMID:1932746|PMID:1977621|PMID:1998601|PMID:20088933|PMID:2012760|PMID:20683322|PMID:2093312|PMID:21264449|PMID:21325262|PMID:2229057|PMID:22398878|PMID:22481271|PMID:22498748|PMID:22627591|PMID:23329010|PMID:23358206|PMID:2336381|PMID:2349545|PMID:2363123|PMID:2365065|PMID:2372510|PMID:23910795|PMID:23932013|PMID:24055113|PMID:24072242|PMID:24082793|PMID:24121110|PMID:24158114|PMID:24162787|PMID:24196373|PMID:24956267|PMID:25298121|PMID:25312341|PMID:25341889|PMID:25466846|PMID:25522812|PMID:25637381|PMID:25741868|PMID:25837307|PMID:2602168|PMID:2615648|PMID:26748602|PMID:27098529|PMID:27283015|PMID:27322195|PMID:27749296|PMID:27838551|PMID:2794060|PMID:28166811|PMID:28174134|PMID:28300866|PMID:28317092|PMID:28492532|PMID:28607330|PMID:28743742|PMID:29071478|PMID:29153735|PMID:2917133|PMID:29215785|PMID:29296762|PMID:29662868|PMID:29708875|PMID:2983542|PMID:29902631|PMID:30046692|PMID:3055413|PMID:30721820|PMID:3080419|PMID:31030036|PMID:31064749|PMID:31157679|PMID:3141397|PMID:3162733|PMID:3169232|PMID:3179438|PMID:3179448|PMID:3187951|PMID:31885188|PMID:3191114|PMID:3238650|PMID:33367661|PMID:3350974|PMID:3360140|PMID:33614741|PMID:33917853|PMID:3413737|PMID:34355501|PMID:3472589|PMID:34800304|PMID:3512602|PMID:3563966|PMID:3563974|PMID:3567355|PMID:3580302|PMID:3605071|PMID:3663508|PMID:3715788|PMID:3775688|PMID:3805013|PMID:3828226|PMID:3960724|PMID:4049307|PMID:4082101|PMID:6204398|PMID:6572945|PMID:6582486|PMID:6636045|PMID:6871107|PMID:6871478|PMID:7082587|PMID:7455996|PMID:7734360|PMID:7863481|PMID:7949130|PMID:7981186|PMID:7989582|PMID:8217824|PMID:8274732|PMID:8401542|PMID:8443391|PMID:8476848|PMID:8486379|PMID:8664906|PMID:9157604|PMID:9493570|PMID:9536098|PMID:9845533 12215576 SERPINC1 serpin family C member 1 gene DOID:3755 antithrombin III deficiency susceptibility ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:3162535|REF_RGD_ID:1599321 12215576 SERPINC1 serpin family C member 1 gene DOID:4193 intracranial thrombosis ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6636041 12215576 SERPINC1 serpin family C member 1 gene DOID:630 genetic disease ISO RGD:1316583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12215576 SERPINC1 serpin family C member 1 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1316583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 12215576 SERPINC1 serpin family C member 1 gene DOID:8805 intermediate coronary syndrome treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:8122184|REF_RGD_ID:11035255 12215576 SERPINC1 serpin family C member 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:15792522|REF_RGD_ID:1599333 12215576 SERPINC1 serpin family C member 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1316584 D RGD:9068941 20200609 RGD associated with Melanoma PMID:16440418|REF_RGD_ID:1599327 12215576 SERPINC1 serpin family C member 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD associated with Adenocarcinoma, Colon PMID:16440418|REF_RGD_ID:1599327 12215576 SERPINC1 serpin family C member 1 gene DOID:9000998 Brain Injuries ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21534203 12215576 SERPINC1 serpin family C member 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD associated with Inflammatory Bowel Diseases PMID:16124052|REF_RGD_ID:1599330 12215576 SERPINC1 serpin family C member 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7923645 12215576 SERPINC1 serpin family C member 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1307404 D RGD:9068941 20200609 RGD PMID:24726586|REF_RGD_ID:10450597 12215576 SERPINC1 serpin family C member 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:8589354|REF_RGD_ID:11038771 12215576 SERPINC1 serpin family C member 1 gene DOID:9002457 Experimental Arthritis ISO RGD:1307404 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:22781611|REF_RGD_ID:11035273 12215576 SERPINC1 serpin family C member 1 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD associated with Peritonitis PMID:18458955|REF_RGD_ID:11035266 12215576 SERPINC1 serpin family C member 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6636041 12215576 SERPINC1 serpin family C member 1 gene DOID:9002906 Multiple Organ Failure disease_progression ISO RGD:1316583 D RGD:9068941 20200609 RGD associated with Disseminated Intravascular Coagulation PMID:9630308|REF_RGD_ID:11035250 12215576 SERPINC1 serpin family C member 1 gene DOID:9003121 Thromboembolism ISO RGD:1316583 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thromboembolism PMID:1483705|PMID:1977621|PMID:25741868|PMID:28492532|PMID:31064749|PMID:3472589 12215576 SERPINC1 serpin family C member 1 gene DOID:9003505 Venous Thromboembolism ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:453287 12215576 SERPINC1 serpin family C member 1 gene DOID:9003871 Venous Thrombosis ISO RGD:1316583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:1483705|PMID:1555650|PMID:1977621|PMID:22498748|PMID:2336381|PMID:24072242|PMID:24158114|PMID:25741868|PMID:26748602|PMID:28492532|PMID:29215785|PMID:31064749|PMID:3472589 12215576 SERPINC1 serpin family C member 1 gene DOID:9004590 Acute Liver Failure ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4089794 12215576 SERPINC1 serpin family C member 1 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:22563168|REF_RGD_ID:11035263 12215576 SERPINC1 serpin family C member 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:17940748|REF_RGD_ID:11035256 12215576 SERPINC1 serpin family C member 1 gene DOID:9004649 Heat Stroke treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD associated with Inflammation PMID:20047080|REF_RGD_ID:10402179 12215576 SERPINC1 serpin family C member 1 gene DOID:9005036 Bacteremia treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:2679067|REF_RGD_ID:11035251 12215576 SERPINC1 serpin family C member 1 gene DOID:9005372 Inflammation ISO RGD:1307404 D RGD:9068941 20200609 RGD PMID:17850787|REF_RGD_ID:11035259 12215576 SERPINC1 serpin family C member 1 gene DOID:9005372 Inflammation treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:16095456|REF_RGD_ID:1599331 12215576 SERPINC1 serpin family C member 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1307404 D RGD:9068941 20200609 RGD PMID:22309505|PMID:24671746|REF_RGD_ID:11035271|REF_RGD_ID:11035293 12215576 SERPINC1 serpin family C member 1 gene DOID:9005930 Endotoxemia ISO RGD:1307404 D RGD:9068941 20200609 RGD PMID:15995859|PMID:20519137|PMID:21396682|REF_RGD_ID:1599332|REF_RGD_ID:5147765|REF_RGD_ID:5147779 12215576 SERPINC1 serpin family C member 1 gene DOID:9005930 Endotoxemia treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:16457847|REF_RGD_ID:1599326 12215576 SERPINC1 serpin family C member 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1307404 D RGD:9068941 20201211 RGD PMID:26108065|REF_RGD_ID:11354006 12215576 SERPINC1 serpin family C member 1 gene DOID:9006223 Kidney Reperfusion Injury severity ISO RGD:1307404 D RGD:9068941 20200609 RGD PMID:26108065|REF_RGD_ID:11354006 12215576 SERPINC1 serpin family C member 1 gene DOID:9007096 Stroke ISO RGD:1316583 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868 12215576 SERPINC1 serpin family C member 1 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:19546838|REF_RGD_ID:11035262 12215576 SERPINC1 serpin family C member 1 gene DOID:9007621 Craniocerebral Trauma ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8810955 12215576 SERPINC1 serpin family C member 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1316583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 12215576 SERPINC1 serpin family C member 1 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:1307404 D RGD:9068941 20200609 RGD PMID:21046505|REF_RGD_ID:11035258 12215576 SERPINC1 serpin family C member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12215576 SERPINC1 serpin family C member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1316583 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:7974333|REF_RGD_ID:2312416 12215587 RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:11830 myopia ISO RGD:1344062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 12215587 RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:2717 Bloom syndrome ISO RGD:1344062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12215587 RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:1344062 D RGD:9068941 20200609 RGD protein:decreased expression:temporal neocortex (human) PMID:23200899|REF_RGD_ID:10003135 12215587 RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:630 genetic disease ISO RGD:1344062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215587 RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:9002189 High Myopia ISO RGD:1344062 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS1+7218 (human) PMID:24150758|REF_RGD_ID:10003136 12215587 RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620395 D RGD:9068941 20200609 RGD protein:decreased expression:brain, membrane (rat) PMID:19002579|REF_RGD_ID:10003129 12215587 RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:9007090 Experimental Seizures ISO RGD:620395 D RGD:9068941 20200609 RGD protein:decreased expression:dentate gyrus, hippocampus CA1, cerebral cortex (rat) PMID:23200899|REF_RGD_ID:10003135 12215587 RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:1344062 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21115823 12215587 RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:9008675 Dyskinesias susceptibility ISO RGD:1551710 D RGD:9068941 20200609 RGD PMID:21115823|REF_RGD_ID:10003138 12215587 RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:9256 colorectal cancer ISO RGD:1344062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12215587 RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:9835 refractive error ISO RGD:1344062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20835236 12215618 PITPNM3 PITPNM family member 3 gene DOID:0050572 cone-rod dystrophy ISO RGD:1317841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant PMID:28492532 12215618 PITPNM3 PITPNM family member 3 gene DOID:0050795 cone dystrophy ISO RGD:1317841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25741868 12215618 PITPNM3 PITPNM family member 3 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1317841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 12215618 PITPNM3 PITPNM family member 3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1317841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 12215618 PITPNM3 PITPNM family member 3 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1317841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 12215618 PITPNM3 PITPNM family member 3 gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:1317841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 12215618 PITPNM3 PITPNM family member 3 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1317841 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12215618 PITPNM3 PITPNM family member 3 gene DOID:0111010 cone-rod dystrophy 5 ISO RGD:1317841 D RGD:7240710 20180130 OMIM 12215618 PITPNM3 PITPNM family member 3 gene DOID:0111010 cone-rod dystrophy 5 ISO RGD:1317841 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 5 PMID:17377520|PMID:22405330|PMID:25472526|PMID:25741868|PMID:27160483|PMID:28492532|PMID:30718709|PMID:8586428 12215618 PITPNM3 PITPNM family member 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1317841 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17377520|PMID:22405330|PMID:25472526|PMID:25741868|PMID:27160483|PMID:28492532|PMID:30718709|PMID:8586428 12215618 PITPNM3 PITPNM family member 3 gene DOID:630 genetic disease ISO RGD:1317841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12215618 PITPNM3 PITPNM family member 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1317841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12215618 PITPNM3 PITPNM family member 3 gene DOID:8501 fundus dystrophy ISO RGD:1317841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 12215651 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:0060043 sexual health disorder ISO RGD:737336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19295509 12215651 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:737336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15264227 12215651 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:0060706 X-linked lymphoproliferative syndrome 2 ISO RGD:737336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked PMID:17080092|PMID:17989220|PMID:21119115|PMID:25666262|PMID:26581487|PMID:28492532 12215651 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12215651 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:0060823 syndromic X-linked intellectual disability 94 ISO RGD:737336 D RGD:7240710 20180130 OMIM 12215651 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:0060823 syndromic X-linked intellectual disability 94 ISO RGD:737336 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: GRIA3-Related Disorder | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 94 PMID:17989220|PMID:19022251|PMID:20716669|PMID:24721225|PMID:25326635|PMID:25741868|PMID:25985138|PMID:26467025|PMID:28492532|PMID:28708303|PMID:29016847|PMID:32977175|PMID:35031858 12215651 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:1059 intellectual disability ISO RGD:737336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:32581362|PMID:33818783 12215651 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:12849 autistic disorder ISO RGD:737336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12215651 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:1826 epilepsy ISO RGD:737336 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:33818783 12215651 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:543 dystonia ISO RGD:737336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868|PMID:32581362 12215651 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:630 genetic disease ISO RGD:737336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20716669|PMID:25741868|PMID:25985138|PMID:26467025|PMID:28492532|PMID:29016847|PMID:31209962|PMID:9536098 12215651 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:9001793 Generalized Epilepsy ISO RGD:737336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:32581362 12215651 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:9003937 X Chromosome, Trisomy Xq25 ISO RGD:737336 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Xq25 duplication syndrome 12215651 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25326635|PMID:25741868 12215651 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:9008086 Developmental Disabilities ISO RGD:737336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741907 12215708 RABGGTB Rab geranylgeranyltransferase subunit beta gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:736470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:28492532 12215708 RABGGTB Rab geranylgeranyltransferase subunit beta gene DOID:630 genetic disease ISO RGD:736470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215724 SH2D1A SH2 domain containing 1A gene DOID:0060704 lymphoproliferative syndrome ISO RGD:1346207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Duncan disease | ClinVar Annotator: match by term: Lymphoproliferative disorder | ClinVar Annotator: match by term: X-linked lymphoproliferative syndrome PMID:10549287|PMID:10556288|PMID:10598819|PMID:10691868|PMID:10694488|PMID:10898506|PMID:10934222|PMID:11034354|PMID:11049992|PMID:11133747|PMID:11159547|PMID:11414741|PMID:11477068|PMID:11493483|PMID:11520777|PMID:11678908|PMID:12224001|PMID:12356686|PMID:14583885|PMID:15359110|PMID:15632210|PMID:15661030|PMID:15711562|PMID:15908972|PMID:15992610|PMID:16199547|PMID:16720617|PMID:17576681|PMID:18055393|PMID:19621458|PMID:19937601|PMID:20632414|PMID:20660790|PMID:21119115|PMID:21707584|PMID:21815800|PMID:22433061|PMID:22493517|PMID:22970278|PMID:23143765|PMID:23280491|PMID:23829589|PMID:24616127|PMID:24723092|PMID:24923536|PMID:24985396|PMID:25741868|PMID:26305518|PMID:27209435|PMID:28492532|PMID:28816794|PMID:29604111|PMID:29709555|PMID:30572125|PMID:31415280|PMID:32150605|PMID:32542393|PMID:32888943|PMID:33329693|PMID:3658675|PMID:9536098|PMID:9771704|PMID:9811875 12215724 SH2D1A SH2 domain containing 1A gene DOID:0060705 X-linked lymphoproliferative syndrome 1 ISO RGD:1346207 D RGD:7240710 20200619 OMIM 12215724 SH2D1A SH2 domain containing 1A gene DOID:0060705 X-linked lymphoproliferative syndrome 1 ISO RGD:1346207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked PMID:10549287|PMID:10556288|PMID:10598819|PMID:10691868|PMID:10694488|PMID:10898506|PMID:10934222|PMID:11034354|PMID:11049992|PMID:11133747|PMID:11159547|PMID:11414741|PMID:11477068|PMID:11493483|PMID:11520777|PMID:11678908|PMID:12224001|PMID:12356686|PMID:14583885|PMID:15359110|PMID:15632210|PMID:15661030|PMID:15711562|PMID:15908972|PMID:15992610|PMID:16199547|PMID:16720617|PMID:17576681|PMID:18055393|PMID:19621458|PMID:19937601|PMID:20632414|PMID:20660790|PMID:21119115|PMID:21707584|PMID:21815800|PMID:22493517|PMID:22970278|PMID:23280491|PMID:23829589|PMID:24616127|PMID:24723092|PMID:24923536|PMID:24985396|PMID:25741868|PMID:27209435|PMID:28492532|PMID:28816794|PMID:29604111|PMID:29709555|PMID:30572125|PMID:31415280|PMID:32150605|PMID:32542393|PMID:32888943|PMID:33329693|PMID:3658675|PMID:9536098|PMID:9771704|PMID:9811875 12215724 SH2D1A SH2 domain containing 1A gene DOID:0060706 X-linked lymphoproliferative syndrome 2 ISO RGD:1346207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked PMID:17080092|PMID:17989220|PMID:21119115|PMID:25666262|PMID:26581487|PMID:28492532 12215724 SH2D1A SH2 domain containing 1A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12215724 SH2D1A SH2 domain containing 1A gene DOID:0111845 Mullegama-Klein-Martinez syndrome ISO RGD:1346207 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER, X-LINKED, WITH CRANIOFACIAL ABNORMALITIES PMID:25741868|PMID:28492532 12215724 SH2D1A SH2 domain containing 1A gene DOID:12849 autistic disorder ISO RGD:1346207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12215724 SH2D1A SH2 domain containing 1A gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1346207 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:11049992|PMID:15711562|PMID:22970278|PMID:25741868|PMID:28492532|PMID:31415280|PMID:9771704 12215724 SH2D1A SH2 domain containing 1A gene DOID:630 genetic disease ISO RGD:1346207 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12215724 SH2D1A SH2 domain containing 1A gene DOID:9003937 X Chromosome, Trisomy Xq25 ISO RGD:1346207 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Xq25 duplication syndrome 12215724 SH2D1A SH2 domain containing 1A gene DOID:9008492 Holoprosencephaly 13 ISO RGD:1346207 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 13, X-linked PMID:25741868|PMID:28492532 12215732 LOC100682654 zinc finger protein 709 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1605565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12215732 LOC100682654 zinc finger protein 709 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1605565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12215732 LOC100682654 zinc finger protein 709 gene DOID:0111254 glutaric acidemia I ISO RGD:1605565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12215732 LOC100682654 zinc finger protein 709 gene DOID:3413 alpha-mannosidosis ISO RGD:1605565 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12215732 LOC100682654 zinc finger protein 709 gene DOID:630 genetic disease ISO RGD:1605565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215791 TACR1 tachykinin receptor 1 gene DOID:0060001 withdrawal disorder ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7692360 12215791 TACR1 tachykinin receptor 1 gene DOID:0060180 colitis ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:18715640|REF_RGD_ID:2304260 12215791 TACR1 tachykinin receptor 1 gene DOID:0080821 exercise-induced bronchoconstriction ISO RGD:731008 D RGD:9068941 20200609 RGD PMID:8630576|REF_RGD_ID:5147837 12215791 TACR1 tachykinin receptor 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:3811 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung PMID:12857498|REF_RGD_ID:5147821 12215791 TACR1 tachykinin receptor 1 gene DOID:10763 hypertension ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21294877 12215791 TACR1 tachykinin receptor 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19204064 12215791 TACR1 tachykinin receptor 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731009 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 12215791 TACR1 tachykinin receptor 1 gene DOID:11396 pulmonary edema ISO RGD:731009 D RGD:9068941 20200609 RGD PMID:19633070|REF_RGD_ID:5147816 12215791 TACR1 tachykinin receptor 1 gene DOID:1176 bronchial disease ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15774269 12215791 TACR1 tachykinin receptor 1 gene DOID:1273 respiratory syncytial virus infectious disease treatment ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:10516226|REF_RGD_ID:5147822 12215791 TACR1 tachykinin receptor 1 gene DOID:1574 alcohol use disorder ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19204064 12215791 TACR1 tachykinin receptor 1 gene DOID:1679 cystitis ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:17382773|REF_RGD_ID:2304340 12215791 TACR1 tachykinin receptor 1 gene DOID:2841 asthma ISO RGD:3811 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung PMID:16409782|REF_RGD_ID:5147475 12215791 TACR1 tachykinin receptor 1 gene DOID:2841 asthma ISO RGD:3811 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:17392578|REF_RGD_ID:2304339 12215791 TACR1 tachykinin receptor 1 gene DOID:2841 asthma ISO RGD:731008 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:8240667|REF_RGD_ID:5147645 12215791 TACR1 tachykinin receptor 1 gene DOID:3312 bipolar disorder ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19204064 12215791 TACR1 tachykinin receptor 1 gene DOID:4481 allergic rhinitis ISO RGD:3811 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal mucosa PMID:12768696|REF_RGD_ID:5147835 12215791 TACR1 tachykinin receptor 1 gene DOID:4989 pancreatitis ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:18580444|REF_RGD_ID:2304266 12215791 TACR1 tachykinin receptor 1 gene DOID:4989 pancreatitis ISO RGD:731009 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, pancreas PMID:16369913|REF_RGD_ID:5147636 12215791 TACR1 tachykinin receptor 1 gene DOID:630 genetic disease ISO RGD:731008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215791 TACR1 tachykinin receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:12662901|REF_RGD_ID:5147638 12215791 TACR1 tachykinin receptor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:18945947|REF_RGD_ID:2304258 12215791 TACR1 tachykinin receptor 1 gene DOID:9000310 Lung Injury ISO RGD:731009 D RGD:9068941 20200609 RGD PMID:17565047|REF_RGD_ID:5147820 12215791 TACR1 tachykinin receptor 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:17542534|REF_RGD_ID:1626451 12215791 TACR1 tachykinin receptor 1 gene DOID:9000641 Pain ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:18407414|REF_RGD_ID:2304276 12215791 TACR1 tachykinin receptor 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:18063836|REF_RGD_ID:5147833 12215791 TACR1 tachykinin receptor 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:731009 D RGD:9068941 20200609 RGD PMID:15272104|REF_RGD_ID:5147834 12215791 TACR1 tachykinin receptor 1 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:20176632|REF_RGD_ID:5147811 12215791 TACR1 tachykinin receptor 1 gene DOID:9001579 Neurogenic Inflammation ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:18326823|REF_RGD_ID:2304321 12215791 TACR1 tachykinin receptor 1 gene DOID:9001579 Neurogenic Inflammation ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17257769|PMID:21570423 12215791 TACR1 tachykinin receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964684|PMID:17123731 12215791 TACR1 tachykinin receptor 1 gene DOID:9004610 Acute Lung Injury ISO RGD:731009 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:18523300|REF_RGD_ID:5147819 12215791 TACR1 tachykinin receptor 1 gene DOID:9004657 Weight Gain ISO RGD:731009 D RGD:9068941 20200609 RGD PMID:21467195|REF_RGD_ID:5147668 12215791 TACR1 tachykinin receptor 1 gene DOID:9005372 Inflammation ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:18053315|REF_RGD_ID:2304327 12215791 TACR1 tachykinin receptor 1 gene DOID:9006024 Hypotension ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:18337316|PMID:19261870|REF_RGD_ID:2304250|REF_RGD_ID:2304320 12215791 TACR1 tachykinin receptor 1 gene DOID:9007001 Bradycardia ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9696263 12215791 TACR1 tachykinin receptor 1 gene DOID:9007480 Hyperoxia ISO RGD:731009 D RGD:9068941 20200609 RGD PMID:19633070|REF_RGD_ID:5147816 12215791 TACR1 tachykinin receptor 1 gene DOID:9007730 Burns ISO RGD:731009 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:18523300|REF_RGD_ID:5147819 12215791 TACR1 tachykinin receptor 1 gene DOID:9008385 Vomiting ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15680276 12215791 TACR1 tachykinin receptor 1 gene DOID:9220 central sleep apnea ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:18420958|REF_RGD_ID:2304275 12215791 TACR1 tachykinin receptor 1 gene DOID:9675 pulmonary emphysema ISO RGD:731009 D RGD:9068941 20200609 RGD PMID:19445658|REF_RGD_ID:5147818 12215798 CYP21A2 cytochrome P450c21 gene DOID:0050553 JMP syndrome ISO RGD:1346271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12215798 CYP21A2 cytochrome P450c21 gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:1346271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid CAH PMID:10323382|PMID:10364682|PMID:10408786|PMID:10720040|PMID:10857554|PMID:10908170|PMID:11220701|PMID:11232002|PMID:11600539|PMID:12038604|PMID:12050257|PMID:12220458|PMID:12222711|PMID:12384784|PMID:12788866|PMID:12788880|PMID:12887291|PMID:12915679|PMID:1406699|PMID:1406709|PMID:14513879|PMID:14715874|PMID:1496017|PMID:15623806|PMID:15670187|PMID:15858147|PMID:16430727|PMID:1644925|PMID:17164306|PMID:17666484|PMID:18039588|PMID:18319307|PMID:18381579|PMID:1864962|PMID:1869518|PMID:19208730|PMID:19449670|PMID:19773403|PMID:1985465|PMID:20301350|PMID:20587039|PMID:20661889|PMID:20926536|PMID:20970527|PMID:21117955|PMID:21228398|PMID:21274396|PMID:21444649|PMID:21532487|PMID:21609351|PMID:21635882|PMID:21646730|PMID:21843885|PMID:22017335|PMID:22156666|PMID:22270556|PMID:2249999|PMID:23073904|PMID:23269230|PMID:23337727|PMID:23359698|PMID:23359706|PMID:23769969|PMID:23926370|PMID:23936690|PMID:24033266|PMID:24312389|PMID:24503005|PMID:24622265|PMID:24953648|PMID:25041270|PMID:25227725|PMID:25356970|PMID:25481255|PMID:25525159|PMID:25538881|PMID:25741868|PMID:26206692|PMID:26209023|PMID:26278268|PMID:26291314|PMID:26467025|PMID:26804566|PMID:27041116|PMID:27785393|PMID:2788081|PMID:27896104|PMID:27966633|PMID:28161392|PMID:28392195|PMID:28401898|PMID:28492532|PMID:28644547|PMID:28819757|PMID:29035424|PMID:29386111|PMID:29412390|PMID:29450859|PMID:29525066|PMID:29715434|PMID:29996815|PMID:30048636|PMID:3038528|PMID:30487145|PMID:30609409|PMID:30611409|PMID:30656636|PMID:30811025|PMID:30816000|PMID:30833958|PMID:30889569|PMID:30968594|PMID:30995443|PMID:31159521|PMID:31333583|PMID:31344365|PMID:31446012|PMID:31571129|PMID:31586465|PMID:31605362|PMID:31637888|PMID:31980526|PMID:32185686|PMID:32272826|PMID:32289882|PMID:32358738|PMID:32367404|PMID:32442933|PMID:3260007|PMID:32614782|PMID:32616876|PMID:32647925|PMID:32659761|PMID:3267225|PMID:32714392|PMID:32903448|PMID:32965796|PMID:32966723|PMID:33083013|PMID:33240318|PMID:33552137|PMID:33604243|PMID:33710594|PMID:33715135|PMID:33864926|PMID:34171085|PMID:34355878|PMID:34540367|PMID:35714169|PMID:7635470|PMID:7749410|PMID:8034294|PMID:8081391|PMID:8741909|PMID:8989258|PMID:9378109|PMID:9385370|PMID:9518489|PMID:9661649 12215798 CYP21A2 cytochrome P450c21 gene DOID:0060041 autism spectrum disorder ISO RGD:1346271 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12215798 CYP21A2 cytochrome P450c21 gene DOID:0080731 Ehlers-Danlos syndrome classic-like 1 ISO RGD:1346271 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency PMID:25741868 12215798 CYP21A2 cytochrome P450c21 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1346271 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868 12215798 CYP21A2 cytochrome P450c21 gene DOID:630 genetic disease ISO RGD:1346271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10408786|PMID:10720040|PMID:10857554|PMID:10908170|PMID:12038604|PMID:12213891|PMID:12788880|PMID:12915679|PMID:14513879|PMID:1496017|PMID:16075929|PMID:1644925|PMID:17042033|PMID:17275379|PMID:18381579|PMID:1864962|PMID:1937474|PMID:19420818|PMID:19750867|PMID:1985465|PMID:20080860|PMID:20301350|PMID:20661889|PMID:20926536|PMID:21098686|PMID:21609351|PMID:21646730|PMID:22270556|PMID:2249999|PMID:2303461|PMID:2325662|PMID:23359698|PMID:23359706|PMID:23769969|PMID:24033266|PMID:24667412|PMID:24671123|PMID:24904866|PMID:24953648|PMID:25041270|PMID:25227725|PMID:25353971|PMID:25356970|PMID:25481255|PMID:25501839|PMID:25538881|PMID:25630015|PMID:25741868|PMID:26206692|PMID:26467025|PMID:26804566|PMID:26985347|PMID:27041116|PMID:27785393|PMID:2788081|PMID:28161392|PMID:28392195|PMID:2845408|PMID:28492532|PMID:28644547|PMID:29412390|PMID:29525066|PMID:29996815|PMID:30487145|PMID:30609409|PMID:30656636|PMID:30968594|PMID:30995443|PMID:31159521|PMID:31344365|PMID:31446012|PMID:31586465|PMID:31605362|PMID:31980526|PMID:32289882|PMID:32442933|PMID:3257825|PMID:3260007|PMID:32714392|PMID:32959514|PMID:33604243|PMID:34355878|PMID:5804199|PMID:7096533|PMID:7635470|PMID:7749410|PMID:8081391|PMID:8112748|PMID:8175971|PMID:8698338|PMID:8968761|PMID:9215318|PMID:9661649 12215798 CYP21A2 cytochrome P450c21 gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:1346271 D RGD:7240710 20180130 OMIM 12215798 CYP21A2 cytochrome P450c21 gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:1346271 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CYP21 deficiency | ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency PMID:10229037|PMID:10323382|PMID:10364682|PMID:10408786|PMID:10443693|PMID:10496074|PMID:10720040|PMID:10790214|PMID:10792340|PMID:10857554|PMID:10908170|PMID:10931088|PMID:11093272|PMID:11220701|PMID:11232002|PMID:11600539|PMID:11739456|PMID:12038604|PMID:12050231|PMID:12050257|PMID:12213891|PMID:12220458|PMID:12222711|PMID:12384784|PMID:12788866|PMID:12788880|PMID:12887291|PMID:12915679|PMID:1406699|PMID:1406709|PMID:14502362|PMID:14513879|PMID:14715874|PMID:1496017|PMID:15110320|PMID:15126570|PMID:15623806|PMID:15670187|PMID:15858147|PMID:16075929|PMID:16427797|PMID:16430727|PMID:1644925|PMID:16483186|PMID:16487445|PMID:16728546|PMID:16788163|PMID:16793961|PMID:17042033|PMID:17119906|PMID:17164306|PMID:17275379|PMID:17666484|PMID:17803691|PMID:18039588|PMID:18319307|PMID:18381579|PMID:18445671|PMID:18478071|PMID:1864962|PMID:1869518|PMID:18702679|PMID:19058224|PMID:19169499|PMID:19204079|PMID:19208730|PMID:19263525|PMID:19347184|PMID:1937474|PMID:19420818|PMID:19449670|PMID:19501079|PMID:19505723|PMID:19531083|PMID:19624807|PMID:19750867|PMID:19773403|PMID:19778530|PMID:1985465|PMID:19856253|PMID:19961824|PMID:20080860|PMID:20233785|PMID:20301350|PMID:20587039|PMID:20661889|PMID:2072928|PMID:20818501|PMID:20838032|PMID:20926536|PMID:20970527|PMID:21098686|PMID:21117955|PMID:21134444|PMID:21169732|PMID:21228398|PMID:21274396|PMID:21329531|PMID:21444649|PMID:21521936|PMID:21532487|PMID:21534945|PMID:21609351|PMID:21635882|PMID:21646284|PMID:21646730|PMID:21750395|PMID:21843885|PMID:22017335|PMID:22156666|PMID:22262854|PMID:22270556|PMID:22313422|PMID:2249999|PMID:22629504|PMID:22841790|PMID:22985688|PMID:2303461|PMID:23073904|PMID:23142378|PMID:23166432|PMID:23241443|PMID:2325662|PMID:23269230|PMID:23322511|PMID:23337727|PMID:23342490|PMID:23359698|PMID:23359706|PMID:23570880|PMID:23769969|PMID:23926370|PMID:23927611|PMID:23936690|PMID:24033266|PMID:24071710|PMID:24077358|PMID:24196000|PMID:24312389|PMID:24503005|PMID:24622265|PMID:24667412|PMID:24671123|PMID:24799024|PMID:24904866|PMID:24953648|PMID:25041270|PMID:25121463|PMID:25227725|PMID:25353971|PMID:25356970|PMID:25481255|PMID:25501839|PMID:25525159|PMID:25538881|PMID:25553759|PMID:25630015|PMID:25741868|PMID:26172259|PMID:26184415|PMID:2620669|PMID:26206692|PMID:26209023|PMID:26278268|PMID:26291314|PMID:26300845|PMID:26425475|PMID:26467025|PMID:26804566|PMID:26985347|PMID:27041116|PMID:27082632|PMID:27185867|PMID:27721825|PMID:27785393|PMID:2788081|PMID:27890570|PMID:27896104|PMID:27966633|PMID:28161392|PMID:2827462|PMID:28275658|PMID:28392195|PMID:28401898|PMID:2845408|PMID:28487735|PMID:28492532|PMID:28539365|PMID:28644547|PMID:28676275|PMID:28741757|PMID:28819757|PMID:29035424|PMID:29074860|PMID:29266270|PMID:29386111|PMID:29412390|PMID:29450859|PMID:29525066|PMID:29684512|PMID:29715434|PMID:29892641|PMID:29996815|PMID:30048636|PMID:3038528|PMID:30487145|PMID:30609409|PMID:30611409|PMID:30656636|PMID:30811025|PMID:30816000|PMID:30833958|PMID:30889569|PMID:30968594|PMID:30995443|PMID:31159521|PMID:31333583|PMID:31344365|PMID:31446012|PMID:31571129|PMID:31586465|PMID:31605362|PMID:31637888|PMID:31980526|PMID:32185686|PMID:32236851|PMID:32272826|PMID:32289882|PMID:32358738|PMID:32367404|PMID:32442933|PMID:3257825|PMID:3260007|PMID:3260033|PMID:32614782|PMID:32616876|PMID:32647925|PMID:32659761|PMID:3267225|PMID:32714392|PMID:32903448|PMID:32959514|PMID:32965796|PMID:32966723|PMID:33083013|PMID:33240318|PMID:33552137|PMID:33604243|PMID:33666875|PMID:33710594|PMID:33715135|PMID:33809035|PMID:33864926|PMID:34171085|PMID:34355878|PMID:34540367|PMID:35079965|PMID:35094236|PMID:35112591|PMID:35714169|PMID:5804199|PMID:7096533|PMID:7635470|PMID:7749410|PMID:8034294|PMID:8081391|PMID:8112748|PMID:8175971|PMID:8518786|PMID:8698338|PMID:8731325|PMID:8741909|PMID:8968761|PMID:8989258|PMID:9067760|PMID:9099839|PMID:9187661|PMID:9215318|PMID:9378109|PMID:9385370|PMID:9497336|PMID:9518489|PMID:9661649 12215798 CYP21A2 cytochrome P450c21 gene DOID:9003787 Lipoid Congenital Adrenal Hyperplasia ISO RGD:1346271 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lipoid hyperplasia congenital of adrenal cortex with male pseudohermaphroditism PMID:10323382|PMID:10364682|PMID:10720040|PMID:11232002|PMID:11600539|PMID:12050257|PMID:12222711|PMID:12788866|PMID:12887291|PMID:1406699|PMID:1406709|PMID:1496017|PMID:18381579|PMID:19208730|PMID:20301350|PMID:20926536|PMID:21228398|PMID:21274396|PMID:21444649|PMID:21635882|PMID:21843885|PMID:22017335|PMID:22270556|PMID:23073904|PMID:23359706|PMID:24953648|PMID:25481255|PMID:25538881|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28644547|PMID:29996815|PMID:30968594|PMID:31333583|PMID:31586465|PMID:32616876|PMID:32966723|PMID:8989258 12215798 CYP21A2 cytochrome P450c21 gene DOID:9009048 Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency ISO RGD:1346271 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency PMID:12050257|PMID:23359698|PMID:25741868|PMID:29035424|PMID:30611409|PMID:33552137 12215821 CAMP cathelicidin antimicrobial peptide gene DOID:0080600 COVID-19 ISO RGD:1343513 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12215821 CAMP cathelicidin antimicrobial peptide gene DOID:630 genetic disease ISO RGD:1343513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215821 CAMP cathelicidin antimicrobial peptide gene DOID:8881 rosacea ISO RGD:1343513 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35926563 12215821 CAMP cathelicidin antimicrobial peptide gene DOID:9000113 Pneumococcal Meningitis ISO RGD:1559878 D RGD:9068941 20200609 RGD protein:increased expression:brain, coronal section (rat) PMID:19879657|REF_RGD_ID:2316237 12215821 CAMP cathelicidin antimicrobial peptide gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1343513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12215821 CAMP cathelicidin antimicrobial peptide gene DOID:9004484 Sepsis ISO RGD:1559878 D RGD:9068941 20200609 RGD PMID:17142779|REF_RGD_ID:2316243 12215821 CAMP cathelicidin antimicrobial peptide gene DOID:9006976 Erythema ISO RGD:1343513 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35926563 12215829 GPAA1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1353728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12215829 GPAA1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1353728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12215829 GPAA1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:4621 holoprosencephaly ISO RGD:1353728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12215829 GPAA1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:630 genetic disease ISO RGD:1353728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:34703884|PMID:9536098 12215829 GPAA1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:9009067 Glycosylphosphatidylinositol Biosynthesis Defect 15 ISO RGD:1353728 D RGD:7240710 20190315 OMIM 12215829 GPAA1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:9009067 Glycosylphosphatidylinositol Biosynthesis Defect 15 ISO RGD:1353728 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 15 PMID:17576681|PMID:25741868|PMID:28492532|PMID:29100095|PMID:32637629|PMID:34703884|PMID:9536098 12215845 ZFYVE9 zinc finger FYVE-type containing 9 gene DOID:630 genetic disease ISO RGD:1321999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215874 WEE2 WEE2 oocyte meiosis inhibiting kinase gene DOID:0080690 RASopathy ISO RGD:1352233 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12215874 WEE2 WEE2 oocyte meiosis inhibiting kinase gene DOID:630 genetic disease ISO RGD:1352233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215874 WEE2 WEE2 oocyte meiosis inhibiting kinase gene DOID:9009251 Oocyte Maturation Defect 5 ISO RGD:1352233 D RGD:7240710 20190315 OMIM 12215874 WEE2 WEE2 oocyte meiosis inhibiting kinase gene DOID:9009251 Oocyte Maturation Defect 5 ISO RGD:1352233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 5 PMID:29606300|PMID:30628060 12215888 SYMPK symplekin scaffold protein gene DOID:630 genetic disease ISO RGD:1315523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215888 SYMPK symplekin scaffold protein gene DOID:9000217 Stomach Neoplasms ISO RGD:1315523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12215888 SYMPK symplekin scaffold protein gene DOID:9000918 Disease Progression ISO RGD:1315523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12215924 EBF1 EBF transcription factor 1 gene DOID:0050873 follicular lymphoma ISO RGD:1349579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 12215924 EBF1 EBF transcription factor 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1349579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12215924 EBF1 EBF transcription factor 1 gene DOID:630 genetic disease ISO RGD:1349579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215924 EBF1 EBF transcription factor 1 gene DOID:811 lipodystrophy ISO RGD:732633 D RGD:9068941 20220825 MouseDO OMIM:608709 12215924 EBF1 EBF transcription factor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1349579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 12215956 CNN3 calponin 3 gene DOID:305 carcinoma ISO RGD:731963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12215956 CNN3 calponin 3 gene DOID:630 genetic disease ISO RGD:731963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215956 CNN3 calponin 3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12215956 CNN3 calponin 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12215956 CNN3 calponin 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12215966 MRPS14 mitochondrial ribosomal protein S14 gene DOID:0111466 combined oxidative phosphorylation deficiency 38 ISO RGD:1319772 D RGD:7240710 20190911 OMIM 12215966 MRPS14 mitochondrial ribosomal protein S14 gene DOID:0111466 combined oxidative phosphorylation deficiency 38 ISO RGD:1319772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 38 PMID:30358850 12215966 MRPS14 mitochondrial ribosomal protein S14 gene DOID:1540 parathyroid carcinoma ISO RGD:1319772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12215966 MRPS14 mitochondrial ribosomal protein S14 gene DOID:3755 antithrombin III deficiency ISO RGD:1319772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 12215966 MRPS14 mitochondrial ribosomal protein S14 gene DOID:630 genetic disease ISO RGD:1319772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215966 MRPS14 mitochondrial ribosomal protein S14 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1319772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 12215966 MRPS14 mitochondrial ribosomal protein S14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12215981 RPP25L ribonuclease P/MRP subunit p25 like gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1315272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12215981 RPP25L ribonuclease P/MRP subunit p25 like gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1315272 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12215981 RPP25L ribonuclease P/MRP subunit p25 like gene DOID:0080942 anauxetic dysplasia ISO RGD:1315272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12215981 RPP25L ribonuclease P/MRP subunit p25 like gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1315272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12215981 RPP25L ribonuclease P/MRP subunit p25 like gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1315272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12215981 RPP25L ribonuclease P/MRP subunit p25 like gene DOID:630 genetic disease ISO RGD:1315272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12215981 RPP25L ribonuclease P/MRP subunit p25 like gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1315272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12215981 RPP25L ribonuclease P/MRP subunit p25 like gene DOID:9562 primary ciliary dyskinesia ISO RGD:1315272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12215981 RPP25L ribonuclease P/MRP subunit p25 like gene DOID:9870 galactosemia ISO RGD:1315272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12215990 ZNF292 zinc finger protein 292 gene DOID:1059 intellectual disability ISO RGD:1354082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25363760|PMID:25741868|PMID:28492532|PMID:31723249 12215990 ZNF292 zinc finger protein 292 gene DOID:1826 epilepsy ISO RGD:1354082 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12215990 ZNF292 zinc finger protein 292 gene DOID:630 genetic disease ISO RGD:1354082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:31723249 12215990 ZNF292 zinc finger protein 292 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475|PMID:29662167 12215990 ZNF292 zinc finger protein 292 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: ZNF292-related neurodevelopmental condition PMID:25363760|PMID:25741868|PMID:27824329|PMID:28492532|PMID:30564305|PMID:31723249 12215990 ZNF292 zinc finger protein 292 gene DOID:9005687 Autosomal Dominant Intellectual Developmental Disorder 64 ISO RGD:1354082 D RGD:7240710 20210303 OMIM 12215990 ZNF292 zinc finger protein 292 gene DOID:9005687 Autosomal Dominant Intellectual Developmental Disorder 64 ISO RGD:1354082 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 64 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 64 PMID:25363760|PMID:25741868|PMID:27824329|PMID:28492532|PMID:28808027|PMID:30564305|PMID:31723249 12215990 ZNF292 zinc finger protein 292 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1354082 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868 12215990 ZNF292 zinc finger protein 292 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1354082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25559195 12215990 ZNF292 zinc finger protein 292 gene DOID:9009213 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES ISO RGD:1354082 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities PMID:25741868 12216006 PGGHG protein-glucosylgalactosylhydroxylysine glucosidase gene DOID:0110344 osteogenesis imperfecta type 5 ISO RGD:1604792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 5 PMID:22863190|PMID:22863195|PMID:23977282|PMID:25251575|PMID:25741868|PMID:28492532|PMID:31099171|PMID:31159867|PMID:32383316 12216006 PGGHG protein-glucosylgalactosylhydroxylysine glucosidase gene DOID:0111969 immunodeficiency 39 ISO RGD:1604792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12216006 PGGHG protein-glucosylgalactosylhydroxylysine glucosidase gene DOID:12347 osteogenesis imperfecta ISO RGD:1604792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:22863190|PMID:22863195|PMID:23977282|PMID:25251575|PMID:25741868|PMID:28492532|PMID:31099171|PMID:31159867|PMID:32383316 12216006 PGGHG protein-glucosylgalactosylhydroxylysine glucosidase gene DOID:630 genetic disease ISO RGD:1604792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216006 PGGHG protein-glucosylgalactosylhydroxylysine glucosidase gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:1604792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Postmenopausal osteoporosis PMID:22863190|PMID:22863195|PMID:23977282|PMID:25251575|PMID:25741868|PMID:28492532|PMID:31099171|PMID:31159867|PMID:32383316 12216030 A1BG alpha-1-B glycoprotein gene DOID:5419 schizophrenia ISO RGD:69466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25821032 12216030 A1BG alpha-1-B glycoprotein gene DOID:630 genetic disease ISO RGD:69466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216030 A1BG alpha-1-B glycoprotein gene DOID:9005369 Hepatomegaly ISO RGD:69466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12216043 ANKRD49 ankyrin repeat domain 49 gene DOID:1059 intellectual disability ISO RGD:1606551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12216043 ANKRD49 ankyrin repeat domain 49 gene DOID:12704 ataxia telangiectasia ISO RGD:1606551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12216043 ANKRD49 ankyrin repeat domain 49 gene DOID:630 genetic disease ISO RGD:1606551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216053 VEPH1 ventricular zone expressed PH domain containing 1 gene DOID:630 genetic disease ISO RGD:1353776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216082 PDS5B PDS5 cohesin associated factor B gene DOID:630 genetic disease ISO RGD:1321969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216131 ADGRG1 adhesion G protein-coupled receptor G1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1352005 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12216131 ADGRG1 adhesion G protein-coupled receptor G1 gene DOID:0080922 bilateral frontoparietal polymicrogyria ISO RGD:1352005 D RGD:7240710 20190315 OMIM 12216131 ADGRG1 adhesion G protein-coupled receptor G1 gene DOID:0080922 bilateral frontoparietal polymicrogyria ISO RGD:1352005 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bilateral frontoparietal polymicrogyria PMID:15044805|PMID:18414213|PMID:19016831|PMID:20929962|PMID:21349848|PMID:22238662|PMID:24033266|PMID:24949629|PMID:25642806|PMID:25741868|PMID:25922261|PMID:26467025|PMID:27657451|PMID:28097321|PMID:28424266|PMID:28492532|PMID:29707406|PMID:34513772 12216131 ADGRG1 adhesion G protein-coupled receptor G1 gene DOID:0080924 bilateral perisylvian polymicrogyria ISO RGD:1352005 D RGD:7240710 20190315 OMIM 12216131 ADGRG1 adhesion G protein-coupled receptor G1 gene DOID:0080924 bilateral perisylvian polymicrogyria ISO RGD:1352005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polymicrogyria, bilateral perisylvian, autosomal recessive PMID:25741868 12216131 ADGRG1 adhesion G protein-coupled receptor G1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1352005 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12216131 ADGRG1 adhesion G protein-coupled receptor G1 gene DOID:1826 epilepsy ISO RGD:1352005 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12216131 ADGRG1 adhesion G protein-coupled receptor G1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12216131 ADGRG1 adhesion G protein-coupled receptor G1 gene DOID:630 genetic disease ISO RGD:1352005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15044805|PMID:16240336|PMID:17576745|PMID:18042463|PMID:18414213|PMID:20929962|PMID:21349848|PMID:21723461|PMID:24949629|PMID:25741868|PMID:26467025|PMID:27818281|PMID:28424266|PMID:28492532 12216131 ADGRG1 adhesion G protein-coupled receptor G1 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1352005 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 12216131 ADGRG1 adhesion G protein-coupled receptor G1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1352005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12216131 ADGRG1 adhesion G protein-coupled receptor G1 gene DOID:9006534 Nervous System Malformations ISO RGD:1352005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:15044805|PMID:25741868 12216131 ADGRG1 adhesion G protein-coupled receptor G1 gene DOID:9008086 Developmental Disabilities ISO RGD:1352005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12216158 FMOD fibromodulin gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1353289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12216158 FMOD fibromodulin gene DOID:1540 parathyroid carcinoma ISO RGD:1353289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12216158 FMOD fibromodulin gene DOID:3087 gingivitis ISO RGD:1353289 D RGD:9068941 20200609 RGD protein:increased expression:gingiva PMID:15196146|REF_RGD_ID:2315079 12216158 FMOD fibromodulin gene DOID:630 genetic disease ISO RGD:1353289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216158 FMOD fibromodulin gene DOID:824 periodontitis ISO RGD:1353289 D RGD:9068941 20200609 RGD protein:increased expression:gingiva PMID:15196146|REF_RGD_ID:2315079 12216158 FMOD fibromodulin gene DOID:824 periodontitis ISO RGD:733886 D RGD:9068941 20200609 RGD protein:increased expression:gingiva PMID:15196146|REF_RGD_ID:2315079 12216158 FMOD fibromodulin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1353289 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:Kidney Glomerulus PMID:11259366|REF_RGD_ID:2311416 12216158 FMOD fibromodulin gene DOID:9002165 Diabetic Nephropathies ISO RGD:733886 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;mRNA:decreased expression:kidney cortex PMID:16868749|REF_RGD_ID:2311412 12216158 FMOD fibromodulin gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1353289 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12216158 FMOD fibromodulin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12216158 FMOD fibromodulin gene DOID:971 tendinitis ISO RGD:619769 D RGD:9068941 20200609 RGD PMID:19955224|REF_RGD_ID:2315073 12216168 MMP7 matrix metallopeptidase 7 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:736005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 12216168 MMP7 matrix metallopeptidase 7 gene DOID:0060071 pre-malignant neoplasm ISO RGD:10906 D RGD:9068941 20200609 RGD PMID:9850086|REF_RGD_ID:9685350 12216168 MMP7 matrix metallopeptidase 7 gene DOID:0080365 endometrial hyperplasia ISO RGD:736005 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:17352221|REF_RGD_ID:2298522 12216168 MMP7 matrix metallopeptidase 7 gene DOID:10283 prostate cancer ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:15894268|REF_RGD_ID:9685352 12216168 MMP7 matrix metallopeptidase 7 gene DOID:10286 prostate carcinoma ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:11406539|REF_RGD_ID:1582381 12216168 MMP7 matrix metallopeptidase 7 gene DOID:1059 intellectual disability ISO RGD:736005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12216168 MMP7 matrix metallopeptidase 7 gene DOID:1073 renal hypertension ISO RGD:3100 D RGD:9068941 20200609 RGD protein:increased expression:kidney medulla PMID:12923405|REF_RGD_ID:1302333 12216168 MMP7 matrix metallopeptidase 7 gene DOID:10763 hypertension ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:19398663|REF_RGD_ID:9685347 12216168 MMP7 matrix metallopeptidase 7 gene DOID:10763 hypertension treatment ISO RGD:10906 D RGD:9068941 20200609 RGD PMID:19398663|REF_RGD_ID:9685347 12216168 MMP7 matrix metallopeptidase 7 gene DOID:10763 hypertension treatment ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:19398663|REF_RGD_ID:9685347 12216168 MMP7 matrix metallopeptidase 7 gene DOID:12704 ataxia telangiectasia ISO RGD:736005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12216168 MMP7 matrix metallopeptidase 7 gene DOID:1380 endometrial cancer disease_progression ISO RGD:736005 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:17352221|REF_RGD_ID:2298522 12216168 MMP7 matrix metallopeptidase 7 gene DOID:13948 bladder neck obstruction treatment ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:23313213|REF_RGD_ID:7257549 12216168 MMP7 matrix metallopeptidase 7 gene DOID:2957 pulmonary tuberculosis ISO RGD:736005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24890593 12216168 MMP7 matrix metallopeptidase 7 gene DOID:3068 glioblastoma severity ISO RGD:736005 D RGD:9068941 20200609 RGD protein:increased expression:brain (human) PMID:7616276|REF_RGD_ID:7207145 12216168 MMP7 matrix metallopeptidase 7 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736005 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19596921|REF_RGD_ID:5129528 12216168 MMP7 matrix metallopeptidase 7 gene DOID:4247 coronary restenosis treatment ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:21139058|REF_RGD_ID:9685362 12216168 MMP7 matrix metallopeptidase 7 gene DOID:5199 ureteral obstruction ISO RGD:736005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 12216168 MMP7 matrix metallopeptidase 7 gene DOID:5844 myocardial infarction ISO RGD:10906 D RGD:9068941 20200609 RGD PMID:16769909|REF_RGD_ID:1582373 12216168 MMP7 matrix metallopeptidase 7 gene DOID:630 genetic disease ISO RGD:736005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216168 MMP7 matrix metallopeptidase 7 gene DOID:9000217 Stomach Neoplasms ISO RGD:736005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25847246 12216168 MMP7 matrix metallopeptidase 7 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:21567117|PMID:21935365|REF_RGD_ID:9685338|REF_RGD_ID:9685370 12216168 MMP7 matrix metallopeptidase 7 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:17027671|REF_RGD_ID:2325934 12216168 MMP7 matrix metallopeptidase 7 gene DOID:9001600 Wounds and Injuries ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:9888422|REF_RGD_ID:9685353 12216168 MMP7 matrix metallopeptidase 7 gene DOID:9002055 Chronic Allograft Nephropathy treatment ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:18209025|REF_RGD_ID:9685339 12216168 MMP7 matrix metallopeptidase 7 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:9549496|REF_RGD_ID:8547909 12216168 MMP7 matrix metallopeptidase 7 gene DOID:9002801 Recurrence ISO RGD:736005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25596746 12216168 MMP7 matrix metallopeptidase 7 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:10906 D RGD:9068941 20200609 RGD PMID:23100416|REF_RGD_ID:9685340 12216168 MMP7 matrix metallopeptidase 7 gene DOID:9002928 Colonic Neoplasms ISO RGD:736005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12216168 MMP7 matrix metallopeptidase 7 gene DOID:9003139 Cardiac Fibrosis ISO RGD:3100 D RGD:9068941 20200609 RGD associated with Heart Failure PMID:12875773|REF_RGD_ID:9685341 12216168 MMP7 matrix metallopeptidase 7 gene DOID:9003281 Spontaneous Abortions ISO RGD:736005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12216168 MMP7 matrix metallopeptidase 7 gene DOID:9004610 Acute Lung Injury ISO RGD:3100 D RGD:9068941 20200609 RGD associated with Sepsis PMID:21567117|REF_RGD_ID:9685338 12216168 MMP7 matrix metallopeptidase 7 gene DOID:9005172 Lung Neoplasms ISO RGD:736005 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19596921|REF_RGD_ID:5129528 12216168 MMP7 matrix metallopeptidase 7 gene DOID:9005233 Experimental Mammary Neoplasms onset ISO RGD:10906 D RGD:9068941 20200609 RGD PMID:9850086|REF_RGD_ID:9685350 12216168 MMP7 matrix metallopeptidase 7 gene DOID:9005396 Intimal Hyperplasia ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:20098355|REF_RGD_ID:9685369 12216168 MMP7 matrix metallopeptidase 7 gene DOID:9006081 Osteolysis ISO RGD:10906 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:15894268|REF_RGD_ID:9685352 12216168 MMP7 matrix metallopeptidase 7 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:9546322|REF_RGD_ID:9685357 12216168 MMP7 matrix metallopeptidase 7 gene DOID:9007730 Burns ISO RGD:3100 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum PMID:15182445|REF_RGD_ID:9685358 12216177 TP73 tumor protein p73 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1316062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 12216177 TP73 tumor protein p73 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1316062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12216177 TP73 tumor protein p73 gene DOID:0050861 colorectal adenocarcinoma exacerbates ISO RGD:1316062 D RGD:9068941 20220128 RGD protein:increased expression:colon (human) PMID:19956069|REF_RGD_ID:151347585 12216177 TP73 tumor protein p73 gene DOID:0060081 triple-receptor negative breast cancer ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:17446929|REF_RGD_ID:2290583 12216177 TP73 tumor protein p73 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1316062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12216177 TP73 tumor protein p73 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1316062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12216177 TP73 tumor protein p73 gene DOID:0111934 immunodeficiency 38 ISO RGD:1316062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12216177 TP73 tumor protein p73 gene DOID:0111935 immunodeficiency 16 ISO RGD:1316062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12216177 TP73 tumor protein p73 gene DOID:10283 prostate cancer ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA:alternative forms PMID:15492805|REF_RGD_ID:2298529 12216177 TP73 tumor protein p73 gene DOID:10286 prostate carcinoma disease_progression ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:16254107|REF_RGD_ID:2290587 12216177 TP73 tumor protein p73 gene DOID:10534 stomach cancer exacerbates ISO RGD:1316062 D RGD:9068941 20220128 RGD mRNA:decreased expression:stomach (human) PMID:16190407|REF_RGD_ID:151347595 12216177 TP73 tumor protein p73 gene DOID:10754 otitis media ISO RGD:1316063 D RGD:9068941 20220825 MouseDO OMIM:166760 12216177 TP73 tumor protein p73 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:10383132|REF_RGD_ID:2291836 12216177 TP73 tumor protein p73 gene DOID:11132 prostatic hypertrophy ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA:alternative forms PMID:15492805|REF_RGD_ID:2298529 12216177 TP73 tumor protein p73 gene DOID:11162 respiratory failure ISO RGD:1316062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Respiratory failure PMID:34077761 12216177 TP73 tumor protein p73 gene DOID:1324 lung cancer ISO RGD:1316062 D RGD:9068941 20200609 RGD PMID:11139314|REF_RGD_ID:2291830 12216177 TP73 tumor protein p73 gene DOID:1324 lung cancer susceptibility ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:SNPs:exon 2:4G>A, 14C>T (human) PMID:32063627|REF_RGD_ID:151347583 12216177 TP73 tumor protein p73 gene DOID:1612 breast cancer ISO RGD:1316062 D RGD:9068941 20200609 RGD PMID:11139314|REF_RGD_ID:2291830 12216177 TP73 tumor protein p73 gene DOID:1612 breast cancer ISO RGD:1316062 D RGD:9068941 20200609 RGD DNA, mRNA:loss of heterozygosity, decreased expression:breast PMID:11103943|REF_RGD_ID:2291831 12216177 TP73 tumor protein p73 gene DOID:1612 breast cancer ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:deletion:intron:IVS1-489_-417del (human) PMID:14732927|REF_RGD_ID:151347588 12216177 TP73 tumor protein p73 gene DOID:1612 breast cancer disease_progression ISO RGD:1316062 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16950799|REF_RGD_ID:2290584 12216177 TP73 tumor protein p73 gene DOID:1612 breast cancer no_association ISO RGD:1316062 D RGD:9068941 20200609 RGD DNA:mutations PMID:10634515|REF_RGD_ID:2291835 12216177 TP73 tumor protein p73 gene DOID:2154 nephroblastoma ISO RGD:1316062 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:kidney PMID:10760569|REF_RGD_ID:2291834 12216177 TP73 tumor protein p73 gene DOID:234 colon adenocarcinoma ISO RGD:1316062 D RGD:9068941 20220128 RGD mRNA:increased expression:colon (human) PMID:30420492|REF_RGD_ID:151347580 12216177 TP73 tumor protein p73 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:15492852|REF_RGD_ID:2290588 12216177 TP73 tumor protein p73 gene DOID:3007 breast ductal carcinoma ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast PMID:17011986|REF_RGD_ID:2290492 12216177 TP73 tumor protein p73 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1316062 D RGD:9068941 20220128 RGD mRNA:increased expression:lung (human) PMID:30420492|REF_RGD_ID:151347580 12216177 TP73 tumor protein p73 gene DOID:3907 lung squamous cell carcinoma treatment ISO RGD:1316062 D RGD:9068941 20230216 RGD DNA:SNP:: rs2273953(human) PMID:27246533|REF_RGD_ID:151347584 12216177 TP73 tumor protein p73 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:SNP:intron: (rs3765701) (human) PMID:21965272|REF_RGD_ID:151347589 12216177 TP73 tumor protein p73 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:1316062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245298 12216177 TP73 tumor protein p73 gene DOID:4362 cervical cancer susceptibility ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:SNPs:exon 2:4G>A, 14C>T (rs2273953, rs1801173) (human) PMID:30420492|REF_RGD_ID:151347580 12216177 TP73 tumor protein p73 gene DOID:4450 renal cell carcinoma ISO RGD:1316062 D RGD:9068941 20200609 RGD PMID:9796703|REF_RGD_ID:2291837 12216177 TP73 tumor protein p73 gene DOID:5409 lung small cell carcinoma ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:mutations:multiple: (human) PMID:26168399|REF_RGD_ID:151347582 12216177 TP73 tumor protein p73 gene DOID:630 genetic disease ISO RGD:1316062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216177 TP73 tumor protein p73 gene DOID:657 adenoma ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:hypermethylation:promoter: (human) PMID:29945573|REF_RGD_ID:151347590 12216177 TP73 tumor protein p73 gene DOID:684 hepatocellular carcinoma ISO RGD:1316062 D RGD:9068941 20220128 RGD mRNA:increased expression:liver (human) PMID:14760085|PMID:19664633|PMID:31429776|REF_RGD_ID:151347592|REF_RGD_ID:151347593|REF_RGD_ID:151347594 12216177 TP73 tumor protein p73 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1316062 D RGD:9068941 20220128 RGD protein:decreased phosphorylation:liver (human) PMID:27359056|REF_RGD_ID:151347579 12216177 TP73 tumor protein p73 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1316062 D RGD:9068941 20220128 RGD human cells in a mouse model PMID:25371988|REF_RGD_ID:151347596 12216177 TP73 tumor protein p73 gene DOID:769 neuroblastoma no_association ISO RGD:1316062 D RGD:9068941 20200609 RGD PMID:9288759|REF_RGD_ID:1599583 12216177 TP73 tumor protein p73 gene DOID:8923 skin melanoma ISO RGD:1316062 D RGD:9068941 20220128 RGD mRNA:increased expression:skin of body (human) PMID:30420492|REF_RGD_ID:151347580 12216177 TP73 tumor protein p73 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:11870517|REF_RGD_ID:2290589 12216177 TP73 tumor protein p73 gene DOID:9000509 Epstein-Barr Virus Infections ISO RGD:1316062 D RGD:9068941 20220128 RGD associated with stomach carcinoma;DNA:hypermethylation:promoter (human) PMID:23829175|REF_RGD_ID:151347586 12216177 TP73 tumor protein p73 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1316062 D RGD:9068941 20200609 RGD PMID:11051237|REF_RGD_ID:2291833 12216177 TP73 tumor protein p73 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1316062 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:ovary PMID:10760569|REF_RGD_ID:2291834 12216177 TP73 tumor protein p73 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1316062 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:12928725|REF_RGD_ID:2298530 12216177 TP73 tumor protein p73 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA, protein:splice variant, increased expression:uterine cervix PMID:11870517|REF_RGD_ID:2290589 12216177 TP73 tumor protein p73 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:17504382|REF_RGD_ID:2290582 12216177 TP73 tumor protein p73 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:1316062 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:16818688|REF_RGD_ID:2290586 12216177 TP73 tumor protein p73 gene DOID:9003814 Neurologic Manifestations ISO RGD:1316063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24190996 12216177 TP73 tumor protein p73 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30057029 12216177 TP73 tumor protein p73 gene DOID:9005172 Lung Neoplasms ISO RGD:1316062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28212736 12216177 TP73 tumor protein p73 gene DOID:9005352 CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY ISO RGD:1316062 D RGD:7240710 20210818 OMIM 12216177 TP73 tumor protein p73 gene DOID:9005352 CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY ISO RGD:1316062 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly PMID:25741868|PMID:34077761 12216177 TP73 tumor protein p73 gene DOID:9005372 Inflammation ISO RGD:1316062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28212736 12216177 TP73 tumor protein p73 gene DOID:9005804 Vulvar Neoplasms ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA, protein:splice variant, increased expression:vulva PMID:11720444|REF_RGD_ID:2290590 12216177 TP73 tumor protein p73 gene DOID:9006534 Nervous System Malformations ISO RGD:1316063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24190996 12216177 TP73 tumor protein p73 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1316062 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:16928264|REF_RGD_ID:2290585 12216177 TP73 tumor protein p73 gene DOID:9007715 Endometrial Neoplasms susceptibility ISO RGD:1316062 D RGD:9068941 20200609 RGD DNA:polymorphism:exon PMID:15723718|REF_RGD_ID:2298528 12216177 TP73 tumor protein p73 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1316062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12216177 TP73 tumor protein p73 gene DOID:9008939 Breast Neoplasms ISO RGD:1316062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28212736 12216177 TP73 tumor protein p73 gene DOID:9256 colorectal cancer ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:deletion:intron:IVS1-489_-417del (human) PMID:14732927|REF_RGD_ID:151347588 12216177 TP73 tumor protein p73 gene DOID:9256 colorectal cancer ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:hypermethylation:promoter: (human) PMID:29945573|REF_RGD_ID:151347590 12216177 TP73 tumor protein p73 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:SNP:intron:g.3636226T>C (rs747828) (human) PMID:31090204|REF_RGD_ID:151347587 12216177 TP73 tumor protein p73 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:SNPs:exon 2:4G>A, 14C>T (rs2273953, rs1801173) (human) PMID:21672615|PMID:30420492|REF_RGD_ID:151347580|REF_RGD_ID:151347581 12216201 COG4 component of oligomeric golgi complex 4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1321515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12216201 COG4 component of oligomeric golgi complex 4 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1321515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12216201 COG4 component of oligomeric golgi complex 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1321515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12216201 COG4 component of oligomeric golgi complex 4 gene DOID:0070262 congenital disorder of glycosylation type IIj ISO RGD:1321515 D RGD:7240710 20180130 OMIM 12216201 COG4 component of oligomeric golgi complex 4 gene DOID:0070262 congenital disorder of glycosylation type IIj ISO RGD:1321515 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: COG4-CDG PMID:16199547|PMID:19494034|PMID:19651599|PMID:21185756|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30290151|PMID:31949312|PMID:32078278|PMID:34298581|PMID:8074143 12216201 COG4 component of oligomeric golgi complex 4 gene DOID:0111673 Saul-Wilson syndrome ISO RGD:1321515 D RGD:7240710 20190315 OMIM 12216201 COG4 component of oligomeric golgi complex 4 gene DOID:0111673 Saul-Wilson syndrome ISO RGD:1321515 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC DYSPLASIA | ClinVar Annotator: match by term: Microcephalic osteodysplastic dysplasia, Saul-Wilson type PMID:2309787|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30290151|PMID:31949312|PMID:32078278|PMID:8074143 12216201 COG4 component of oligomeric golgi complex 4 gene DOID:630 genetic disease ISO RGD:1321515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:30290151|PMID:31949312|PMID:32078278|PMID:8074143 12216201 COG4 component of oligomeric golgi complex 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1321515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12216227 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050944 spastic ataxia 5 ISO RGD:1313183 D RGD:7240710 20180130 OMIM 12216227 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050944 spastic ataxia 5 ISO RGD:1313183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia 5 PMID:22022284|PMID:25401298|PMID:25741868|PMID:26454370|PMID:26467025|PMID:27165006|PMID:28492532|PMID:30773800|PMID:31111429|PMID:32219868 12216227 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050952 spastic ataxia ISO RGD:1313183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 12216227 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050952 spastic ataxia onset ISO RGD:1313183 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.Y616C (c.1847G>A) (human) PMID:22022284|REF_RGD_ID:11532672 12216227 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050977 spinocerebellar ataxia type 28 ISO RGD:1313183 D RGD:7240710 20180130 OMIM 12216227 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050977 spinocerebellar ataxia type 28 ISO RGD:1313183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 28 PMID:16251216|PMID:20208537|PMID:20354562|PMID:20725928|PMID:23777634|PMID:25401298|PMID:25741868|PMID:25741869|PMID:26454370|PMID:26467025|PMID:26633542|PMID:27165006|PMID:28444220|PMID:28492532|PMID:29053796|PMID:30773800|PMID:31111429|PMID:31327635|PMID:33956305 12216227 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1313183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12216227 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0080840 optic atrophy 12 ISO RGD:1313183 D RGD:7240710 20200902 OMIM 12216227 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0080840 optic atrophy 12 ISO RGD:1313183 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Optic atrophy 12 PMID:25741868|PMID:26467025|PMID:26539208|PMID:26633542|PMID:28492532|PMID:29181157|PMID:32219868|PMID:32600459 12216227 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1313183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:32219868 12216227 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:1059 intellectual disability ISO RGD:1313183 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12216227 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1313183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:26467025|PMID:28492532 12216227 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:543 dystonia ISO RGD:1313183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:26467025|PMID:28492532|PMID:32219868 12216227 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:5723 optic atrophy ISO RGD:1313183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:26539208|PMID:29181157|PMID:32219868 12216227 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:630 genetic disease ISO RGD:1313183 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30773800|PMID:31111429|PMID:9536098 12216227 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1313183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 12216227 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1313183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20208537 12216248 PAX9 paired box 9 gene DOID:0050591 tooth agenesis ISO RGD:1352334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Selective tooth agenesis | ClinVar Annotator: match by term: Tooth agenesis PMID:25741868|PMID:29969831 12216248 PAX9 paired box 9 gene DOID:12859 choreatic disease ISO RGD:1352334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign hereditary chorea PMID:11971878 12216248 PAX9 paired box 9 gene DOID:13714 anodontia ISO RGD:1352334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Partial congenital absence of teeth PMID:11827258|PMID:12605438|PMID:14571272|PMID:14607846|PMID:16236760|PMID:16479262|PMID:19429910|PMID:22581971|PMID:25741868|PMID:28166811|PMID:28492532|PMID:28910570 12216248 PAX9 paired box 9 gene DOID:630 genetic disease ISO RGD:1352334 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28166811|PMID:28492532 12216248 PAX9 paired box 9 gene DOID:674 cleft palate ISO RGD:733158 D RGD:9068941 20200609 RGD PMID:17097601|REF_RGD_ID:12801424 12216248 PAX9 paired box 9 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1352334 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12216248 PAX9 paired box 9 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1352334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12216248 PAX9 paired box 9 gene DOID:9007839 Selective Tooth Agenesis 3 ISO RGD:1352334 D RGD:7240710 20180130 OMIM 12216248 PAX9 paired box 9 gene DOID:9007839 Selective Tooth Agenesis 3 ISO RGD:1352334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 3 PMID:10615120|PMID:11781684|PMID:11827258|PMID:11941488|PMID:12605438|PMID:12786960|PMID:14571272|PMID:14607846|PMID:14689302|PMID:15615874|PMID:16191360|PMID:16479262|PMID:17910065|PMID:18414213|PMID:19429910|PMID:25741868|PMID:28492532|PMID:29023497 12216256 TGFB3 transforming growth factor beta 3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28798025|PMID:31568572 12216256 TGFB3 transforming growth factor beta 3 gene DOID:0050451 Brugada syndrome ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:25741868 12216256 TGFB3 transforming growth factor beta 3 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:735686 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:28492532 12216256 TGFB3 transforming growth factor beta 3 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:735686 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS PMID:25741868|PMID:28492532 12216256 TGFB3 transforming growth factor beta 3 gene DOID:0050563 nonsyndromic deafness ISO RGD:735686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27356075 12216256 TGFB3 transforming growth factor beta 3 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 12216256 TGFB3 transforming growth factor beta 3 gene DOID:0050700 cardiomyopathy ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28240702|PMID:28492532 12216256 TGFB3 transforming growth factor beta 3 gene DOID:0060480 left ventricular noncompaction ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28798025|PMID:31568572 12216256 TGFB3 transforming growth factor beta 3 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:735686 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:24798638|PMID:25741868|PMID:25835445|PMID:2618446|PMID:28425089|PMID:28492532 12216256 TGFB3 transforming growth factor beta 3 gene DOID:0070236 Loeys-Dietz syndrome 5 ISO RGD:735686 D RGD:7240710 20180130 OMIM 12216256 TGFB3 transforming growth factor beta 3 gene DOID:0070236 Loeys-Dietz syndrome 5 ISO RGD:735686 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 5 | ClinVar Annotator: match by term: Rienhoff syndrome PMID:12529708|PMID:15639475|PMID:16199547|PMID:17576681|PMID:23824657|PMID:23861362|PMID:24125834|PMID:24238504|PMID:24798638|PMID:25136781|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:25835445|PMID:2618446|PMID:26184463|PMID:26188975|PMID:27848944|PMID:28087566|PMID:28166282|PMID:28240702|PMID:28425089|PMID:28492532|PMID:28798025|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29907982|PMID:31568572|PMID:31898322|PMID:32746448|PMID:32897753|PMID:34659991|PMID:7737999|PMID:9536098|PMID:9683588 12216256 TGFB3 transforming growth factor beta 3 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:735686 D RGD:7240710 20180130 OMIM 12216256 TGFB3 transforming growth factor beta 3 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:735686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:12529708|PMID:15639475|PMID:16199547|PMID:23824657|PMID:23861362|PMID:24798638|PMID:25741868|PMID:25835445|PMID:26184463|PMID:26188975|PMID:28087566|PMID:28166282|PMID:28492532|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29907982|PMID:31898322|PMID:32746448|PMID:32897753 12216256 TGFB3 transforming growth factor beta 3 gene DOID:1059 intellectual disability ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12216256 TGFB3 transforming growth factor beta 3 gene DOID:10763 hypertension no_association ISO RGD:735686 D RGD:9068941 20200609 RGD DNA:polymorphism, SNPs PMID:15924806|REF_RGD_ID:1625704 12216256 TGFB3 transforming growth factor beta 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25637381|PMID:25741868|PMID:25835445|PMID:28492532|PMID:28798025|PMID:31568572 12216256 TGFB3 transforming growth factor beta 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 12216256 TGFB3 transforming growth factor beta 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:735686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:23824657|PMID:23861362|PMID:24125834|PMID:24238504|PMID:24798638|PMID:25136781|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:25835445|PMID:26184463|PMID:26188975|PMID:27848944|PMID:28087566|PMID:28166282|PMID:28240702|PMID:28492532|PMID:28798025|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29907982|PMID:31568572|PMID:31898322|PMID:32746448|PMID:32897753|PMID:7737999|PMID:9536098|PMID:9683588 12216256 TGFB3 transforming growth factor beta 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:735686 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:23824657|PMID:23861362|PMID:24125834|PMID:24238504|PMID:24798638|PMID:25136781|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:25835445|PMID:26184463|PMID:26188975|PMID:27848944|PMID:28087566|PMID:28166282|PMID:28240702|PMID:28492532|PMID:28798025|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29907982|PMID:31568572|PMID:31898322|PMID:32746448|PMID:32897753|PMID:34659991|PMID:7737999|PMID:9536098|PMID:9683588 12216256 TGFB3 transforming growth factor beta 3 gene DOID:219 colon cancer disease_progression ISO RGD:735686 D RGD:9068941 20200609 RGD PMID:18360718|REF_RGD_ID:13432091 12216256 TGFB3 transforming growth factor beta 3 gene DOID:3498 pancreatic ductal adenocarcinoma ameliorates ISO RGD:735686 D RGD:9068941 20221027 RGD protein:decreased expression:pancreas (human) PMID:8253361|REF_RGD_ID:155630628 12216256 TGFB3 transforming growth factor beta 3 gene DOID:630 genetic disease ISO RGD:735686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12216256 TGFB3 transforming growth factor beta 3 gene DOID:674 cleft palate ISO RGD:733158 D RGD:9068941 20200609 RGD PMID:17097601|REF_RGD_ID:12801424 12216256 TGFB3 transforming growth factor beta 3 gene DOID:674 cleft palate ISO RGD:735686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26971374|PMID:7493022 12216256 TGFB3 transforming growth factor beta 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12216256 TGFB3 transforming growth factor beta 3 gene DOID:9001600 Wounds and Injuries ISO RGD:3851 D RGD:9068941 20200609 RGD PMID:18205704|REF_RGD_ID:2292158 12216256 TGFB3 transforming growth factor beta 3 gene DOID:9006836 Contracture ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 12216256 TGFB3 transforming growth factor beta 3 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction 12216256 TGFB3 transforming growth factor beta 3 gene DOID:9007870 Respiratory System Abnormalities ISO RGD:735686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7493022 12216256 TGFB3 transforming growth factor beta 3 gene DOID:9008582 Developmental Disease ISO RGD:735686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:25835445|PMID:26188975|PMID:28492532|PMID:31898322 12216256 TGFB3 transforming growth factor beta 3 gene DOID:9256 colorectal cancer treatment ISO RGD:735686 D RGD:9068941 20200609 RGD PMID:12778073|REF_RGD_ID:13432088 12216256 TGFB3 transforming growth factor beta 3 gene DOID:9743 diabetic neuropathy ISO RGD:3851 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:sciatic nerve PMID:18406405|REF_RGD_ID:2302086 12216267 GGT6 gamma-glutamyltransferase 6 gene DOID:630 genetic disease ISO RGD:1603275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216280 SNX31 sorting nexin 31 gene DOID:0111590 Cohen syndrome ISO RGD:1603261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12216280 SNX31 sorting nexin 31 gene DOID:630 genetic disease ISO RGD:1603261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216300 COL23A1 collagen type XXIII alpha 1 chain gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1353219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12216300 COL23A1 collagen type XXIII alpha 1 chain gene DOID:0060071 pre-malignant neoplasm ISO RGD:1353219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12216300 COL23A1 collagen type XXIII alpha 1 chain gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1353219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12216300 COL23A1 collagen type XXIII alpha 1 chain gene DOID:0112103 Sotos syndrome 1 ISO RGD:1353219 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12216300 COL23A1 collagen type XXIII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1353219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216300 COL23A1 collagen type XXIII alpha 1 chain gene DOID:9005539 Familial Prostate Cancer ISO RGD:1353219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12216340 ITGB3BP integrin subunit beta 3 binding protein gene DOID:1059 intellectual disability ISO RGD:1320718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12216340 ITGB3BP integrin subunit beta 3 binding protein gene DOID:289 endometriosis ISO RGD:1320718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12216340 ITGB3BP integrin subunit beta 3 binding protein gene DOID:630 genetic disease ISO RGD:1320718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216371 KSR1 kinase suppressor of ras 1 gene DOID:1612 breast cancer disease_progression ISO RGD:1317686 D RGD:9068941 20210604 RGD PMID:24909178|REF_RGD_ID:127229932 12216371 KSR1 kinase suppressor of ras 1 gene DOID:3458 breast adenocarcinoma severity ISO RGD:1317686 D RGD:9068941 20210604 RGD PMID:24909178|REF_RGD_ID:127229932 12216371 KSR1 kinase suppressor of ras 1 gene DOID:630 genetic disease ISO RGD:1317686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216411 DMRTB1 DMRT like family B with proline rich C-terminal 1 gene DOID:630 genetic disease ISO RGD:1349847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216442 CRIP2 cysteine rich protein 2 gene DOID:0080600 COVID-19 ISO RGD:1351980 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12216442 CRIP2 cysteine rich protein 2 gene DOID:630 genetic disease ISO RGD:1351980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216468 POU2AF2 POU class 2 homeobox associating factor 2 gene DOID:1059 intellectual disability ISO RGD:1605809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12216468 POU2AF2 POU class 2 homeobox associating factor 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1605809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12216468 POU2AF2 POU class 2 homeobox associating factor 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12216477 BOLA1 bolA family member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12216477 BOLA1 bolA family member 1 gene DOID:630 genetic disease ISO RGD:1606296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216477 BOLA1 bolA family member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12216488 ACKR4 atypical chemokine receptor 4 gene DOID:12712 nephronophthisis ISO RGD:1602221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 12216488 ACKR4 atypical chemokine receptor 4 gene DOID:630 genetic disease ISO RGD:1602221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216488 ACKR4 atypical chemokine receptor 4 gene DOID:9003281 Spontaneous Abortions ISO RGD:1602221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12216488 ACKR4 atypical chemokine receptor 4 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1602221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12216488 ACKR4 atypical chemokine receptor 4 gene DOID:9270 alkaptonuria ISO RGD:1602221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12216494 MIR423A microRNA mir-423a gene DOID:10591 pre-eclampsia ISO RGD:1350017 D RGD:9068941 20230323 RGD miRNA:increased expression:plasma PMID:30587375|REF_RGD_ID:158014896 12216494 MIR423A microRNA mir-423a gene DOID:13207 proliferative diabetic retinopathy ISO RGD:1350017 D RGD:9068941 20230202 RGD miRNA:increased expression:vitreous humor (human) PMID:24970617|REF_RGD_ID:155882576 12216494 MIR423A microRNA mir-423a gene DOID:13207 proliferative diabetic retinopathy ISO RGD:1350017 D RGD:9068941 20230323 RGD miRNA:decreased expression:serum PMID:31422516|REF_RGD_ID:158014897 12216494 MIR423A microRNA mir-423a gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1350017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12216494 MIR423A microRNA mir-423a gene DOID:3021 acute kidney failure disease_progression ISO RGD:1350017 D RGD:9068941 20230323 RGD miRNA:increased expression:serum, urine PMID:32984995|REF_RGD_ID:158014895 12216494 MIR423A microRNA mir-423a gene DOID:3393 coronary artery disease ISO RGD:1350017 D RGD:9068941 20230323 RGD DNA:SNP: :rs6505162 (human) PMID:30289085|REF_RGD_ID:158014893 12216494 MIR423A microRNA mir-423a gene DOID:3393 coronary artery disease disease_progression ISO RGD:1350017 D RGD:9068941 20230323 RGD miRNA:decreased expression:serum PMID:32404537|REF_RGD_ID:158014898 12216494 MIR423A microRNA mir-423a gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1350017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24205249 12216494 MIR423A microRNA mir-423a gene DOID:5844 myocardial infarction ISO RGD:1350017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24253456 12216494 MIR423A microRNA mir-423a gene DOID:6000 congestive heart failure ISO RGD:1350017 D RGD:9068941 20230323 RGD miRNA:increased expression:plasma PMID:20185794|REF_RGD_ID:158014892 12216494 MIR423A microRNA mir-423a gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2325359 D RGD:9068941 20230323 RGD PMID:29137244|REF_RGD_ID:158014894 12216494 MIR423A microRNA mir-423a gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12216494 MIR423A microRNA mir-423a gene DOID:9009121 lung metastasis ISO RGD:1350017 D RGD:9068941 20220825 RGD human cells in mouse model PMID:30326930|REF_RGD_ID:153344557 12216494 MIR423A microRNA mir-423a gene DOID:9256 colorectal cancer ISO RGD:1350017 D RGD:9068941 20220722 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12216494 MIR423A microRNA mir-423a gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:1350017 D RGD:9068941 20220825 RGD mRNA:decreased expression:nasopharynx (human) PMID:30326930|REF_RGD_ID:153344557 12216494 MIR423A microRNA mir-423a gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478399 12216513 C4H5orf47 chromosome 4 C5orf47 homolog gene DOID:630 genetic disease ISO RGD:2298818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216556 CPA1 carboxypeptidase A1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12216556 CPA1 carboxypeptidase A1 gene DOID:630 genetic disease ISO RGD:1313664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216556 CPA1 carboxypeptidase A1 gene DOID:9002669 Hypoxia ISO RGD:1313664 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 12216571 IMMP1L inner mitochondrial membrane peptidase subunit 1 gene DOID:1059 intellectual disability ISO RGD:1601711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12216571 IMMP1L inner mitochondrial membrane peptidase subunit 1 gene DOID:12271 aniridia ISO RGD:1601711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 12216571 IMMP1L inner mitochondrial membrane peptidase subunit 1 gene DOID:3764 Denys-Drash syndrome ISO RGD:1601711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Drash syndrome PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28492532 12216571 IMMP1L inner mitochondrial membrane peptidase subunit 1 gene DOID:5419 schizophrenia ISO RGD:1601711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12216571 IMMP1L inner mitochondrial membrane peptidase subunit 1 gene DOID:630 genetic disease ISO RGD:1601711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216571 IMMP1L inner mitochondrial membrane peptidase subunit 1 gene DOID:9002455 Aniridia 1 ISO RGD:1601711 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aniridia 1 PMID:10737978|PMID:11284764|PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28231309|PMID:28492532 12216589 PLCD4 phospholipase C delta 4 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1346447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12216589 PLCD4 phospholipase C delta 4 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1346447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12216589 PLCD4 phospholipase C delta 4 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1346447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12216589 PLCD4 phospholipase C delta 4 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1346447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12216589 PLCD4 phospholipase C delta 4 gene DOID:630 genetic disease ISO RGD:1346447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216589 PLCD4 phospholipase C delta 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12216615 ITGB1BP2 integrin subunit beta 1 binding protein 2 gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:1350069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532 12216615 ITGB1BP2 integrin subunit beta 1 binding protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12216615 ITGB1BP2 integrin subunit beta 1 binding protein 2 gene DOID:12849 autistic disorder ISO RGD:1350069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12216615 ITGB1BP2 integrin subunit beta 1 binding protein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1558623 D RGD:9068941 20200609 RGD PMID:12496958|REF_RGD_ID:1582491 12216615 ITGB1BP2 integrin subunit beta 1 binding protein 2 gene DOID:630 genetic disease ISO RGD:1350069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216615 ITGB1BP2 integrin subunit beta 1 binding protein 2 gene DOID:9007898 FG Syndrome 1 ISO RGD:1350069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 12216635 SLC5A8 solute carrier family 5 member 8 gene DOID:1920 hyperuricemia ISO RGD:1352176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20589576 12216635 SLC5A8 solute carrier family 5 member 8 gene DOID:630 genetic disease ISO RGD:1352176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216635 SLC5A8 solute carrier family 5 member 8 gene DOID:9002928 Colonic Neoplasms ISO RGD:1352176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15090606|PMID:16670197 12216654 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1352399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 12216654 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:10283 prostate cancer ISO RGD:1352399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12216654 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:13580 cholestasis ISO RGD:620266 D RGD:9068941 20200609 RGD protein:altered expression:kidney, liver PMID:15030973|REF_RGD_ID:2301085 12216654 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:13580 cholestasis treatment ISO RGD:620266 D RGD:9068941 20200609 RGD PMID:30223280|REF_RGD_ID:15045612 12216654 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:13619 extrahepatic cholestasis treatment ISO RGD:620266 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:29360226|REF_RGD_ID:14995480 12216654 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:1561 cognitive disorder ISO RGD:1352399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 12216654 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:289 endometriosis ISO RGD:1352399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25446850 12216654 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:303 substance-related disorder ISO RGD:1352399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12216654 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:630 genetic disease ISO RGD:1352399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216654 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1352399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 12216654 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17003774 12216654 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17003774 12216654 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:9002661 Diabetes Complications ISO RGD:1352399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 12216654 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1352399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12216654 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1352399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23222202 12216654 ABCC4 ATP binding cassette subfamily C member 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12216687 RCC1 regulator of chromosome condensation 1 gene DOID:630 genetic disease ISO RGD:1343250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216733 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0050777 Joubert syndrome ISO RGD:733597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12216733 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:733597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12216733 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:733597 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12216733 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12216733 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733597 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12216733 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0081097 Rafiq syndrome ISO RGD:733597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12216733 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:733597 D RGD:9068941 20200609 RGD DNA:deletion:intron:c.1159-14_-22del (human) PMID:17235395|REF_RGD_ID:11567265 12216733 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0090085 hypogonadotropic hypogonadism 9 with or without anosmia ISO RGD:733597 D RGD:7240710 20180130 OMIM 12216733 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0090085 hypogonadotropic hypogonadism 9 with or without anosmia ISO RGD:733597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 9 with or without anosmia PMID:15362570|PMID:17235395|PMID:21700882|PMID:25741868 12216733 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:1826 epilepsy ISO RGD:733597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12216733 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:305 carcinoma ISO RGD:733597 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12216733 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:630 genetic disease ISO RGD:733597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216733 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733597 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12216733 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733597 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12216733 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:733597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 12216733 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733597 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12216733 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:733597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12216768 GDF11 growth differentiation factor 11 gene DOID:0050567 orofacial cleft ISO RGD:731907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofacial cleft PMID:31215115 12216768 GDF11 growth differentiation factor 11 gene DOID:0080600 COVID-19 ISO RGD:731907 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12216768 GDF11 growth differentiation factor 11 gene DOID:630 genetic disease ISO RGD:731907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216768 GDF11 growth differentiation factor 11 gene DOID:9004229 VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES ISO RGD:731907 D RGD:7240710 20220406 OMIM 12216768 GDF11 growth differentiation factor 11 gene DOID:9004229 VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES ISO RGD:731907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vertebral hypersegmentation and orofacial anomalies PMID:25741868|PMID:31215115 12216786 CFAP96 cilia and flagella associated protein 96 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:2298813 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome PMID:25741868|PMID:28492532|PMID:33473208 12216786 CFAP96 cilia and flagella associated protein 96 gene DOID:0111367 Beukes hip dysplasia ISO RGD:2298813 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Hip dysplasia, Beukes type PMID:25741868 12216786 CFAP96 cilia and flagella associated protein 96 gene DOID:1059 intellectual disability ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:33473208 12216786 CFAP96 cilia and flagella associated protein 96 gene DOID:10907 microcephaly ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:33473208 12216786 CFAP96 cilia and flagella associated protein 96 gene DOID:12849 autistic disorder ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12216786 CFAP96 cilia and flagella associated protein 96 gene DOID:12930 dilated cardiomyopathy ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 12216786 CFAP96 cilia and flagella associated protein 96 gene DOID:14784 olivopontocerebellar atrophy ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia PMID:25741868|PMID:28492532|PMID:33473208 12216786 CFAP96 cilia and flagella associated protein 96 gene DOID:1826 epilepsy ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:28492532|PMID:33473208 12216786 CFAP96 cilia and flagella associated protein 96 gene DOID:2234 focal epilepsy ISO RGD:2298813 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868|PMID:28492532|PMID:33473208 12216786 CFAP96 cilia and flagella associated protein 96 gene DOID:630 genetic disease ISO RGD:2298813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216786 CFAP96 cilia and flagella associated protein 96 gene DOID:9001793 Generalized Epilepsy ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:28492532|PMID:33473208 12216786 CFAP96 cilia and flagella associated protein 96 gene DOID:9002016 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE ISO RGD:2298813 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, di rocco type PMID:25741868 12216786 CFAP96 cilia and flagella associated protein 96 gene DOID:9003512 Developmental and Epileptic Encephalopathy 106 ISO RGD:2298813 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 106 PMID:25741868|PMID:28492532|PMID:33473208 12216786 CFAP96 cilia and flagella associated protein 96 gene DOID:9006534 Nervous System Malformations ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28492532|PMID:33473208 12216786 CFAP96 cilia and flagella associated protein 96 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:2298813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 12216822 ZNF782 zinc finger protein 782 gene DOID:1059 intellectual disability ISO RGD:1603891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12216822 ZNF782 zinc finger protein 782 gene DOID:630 genetic disease ISO RGD:1603891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216835 NUP42 nucleoporin 42 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12216835 NUP42 nucleoporin 42 gene DOID:630 genetic disease ISO RGD:1344412 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216846 LDLRAD2 low density lipoprotein receptor class A domain containing 2 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1606368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12216846 LDLRAD2 low density lipoprotein receptor class A domain containing 2 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1606368 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12216846 LDLRAD2 low density lipoprotein receptor class A domain containing 2 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1606368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12216846 LDLRAD2 low density lipoprotein receptor class A domain containing 2 gene DOID:0090005 Schwartz-Jampel syndrome 1 ISO RGD:1606368 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar Annotator: match by term: Schwartz-Jampel syndrome type 1 PMID:11038441|PMID:11941538|PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532 12216846 LDLRAD2 low density lipoprotein receptor class A domain containing 2 gene DOID:10907 microcephaly ISO RGD:1606368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12216846 LDLRAD2 low density lipoprotein receptor class A domain containing 2 gene DOID:630 genetic disease ISO RGD:1606368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532 12216846 LDLRAD2 low density lipoprotein receptor class A domain containing 2 gene DOID:65 connective tissue disease ISO RGD:1606368 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532 12216846 LDLRAD2 low density lipoprotein receptor class A domain containing 2 gene DOID:9005084 Kniest Like Dysplasia Lethal ISO RGD:1606368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal Kniest-like syndrome PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532 12216846 LDLRAD2 low density lipoprotein receptor class A domain containing 2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1606368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12216947 C2CD4C C2 calcium dependent domain containing 4C gene DOID:630 genetic disease ISO RGD:1351171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216953 SLC6A12 solute carrier family 6 member 12 gene DOID:630 genetic disease ISO RGD:731509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12216953 SLC6A12 solute carrier family 6 member 12 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 12216953 SLC6A12 solute carrier family 6 member 12 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:731509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12216993 INVS inversin gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1604022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 12216993 INVS inversin gene DOID:0080322 polycystic kidney disease severity ISO RGD:1557314 D RGD:9068941 20230107 RGD PMID:16999740|REF_RGD_ID:155794378 12216993 INVS inversin gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1604022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 12216993 INVS inversin gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1604022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 12216993 INVS inversin gene DOID:0111112 nephronophthisis 1 ISO RGD:1604022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:17855640|PMID:24033266|PMID:25741868|PMID:28492532 12216993 INVS inversin gene DOID:0111113 nephronophthisis 2 ISO RGD:1604022 D RGD:7240710 20180130 OMIM 12216993 INVS inversin gene DOID:0111113 nephronophthisis 2 ISO RGD:1604022 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Infantile nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 2, infantile PMID:12872123|PMID:15852005|PMID:16199547|PMID:16522655|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19177160|PMID:20798123|PMID:21866095|PMID:23559409|PMID:23713026|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26489027|PMID:2702088|PMID:28492532|PMID:30029678|PMID:31131822|PMID:32173348|PMID:32335886|PMID:33532864|PMID:34031707|PMID:34295353|PMID:34298581|PMID:9536098 12216993 INVS inversin gene DOID:1059 intellectual disability ISO RGD:1604022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12216993 INVS inversin gene DOID:10763 hypertension ISO RGD:1604022 D RGD:9068941 20230107 RGD associated with nephronophthisis 2; PMID:19177160|REF_RGD_ID:155791686 12216993 INVS inversin gene DOID:12712 nephronophthisis ISO RGD:1604022 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:12872123|PMID:16199547|PMID:16522655|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19177160|PMID:20798123|PMID:21866095|PMID:23559409|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26489027|PMID:26862157|PMID:28492532|PMID:33532864|PMID:34298581|PMID:9536098 12216993 INVS inversin gene DOID:12712 nephronophthisis ISO RGD:1604022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:11935322|PMID:12872123|PMID:15852005|PMID:16199547|PMID:16522655|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19177160|PMID:20798123|PMID:21866095|PMID:23559409|PMID:23713026|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26489027|PMID:26862157|PMID:2702088|PMID:28492532|PMID:30029678|PMID:31131822|PMID:32173348|PMID:32335886|PMID:33532864|PMID:34031707|PMID:34295353|PMID:34298581|PMID:9536098 12216993 INVS inversin gene DOID:12712 nephronophthisis ISO RGD:1604022 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:11935322|PMID:12872123|PMID:15852005|PMID:16199547|PMID:16522655|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19177160|PMID:20798123|PMID:21866095|PMID:23559409|PMID:23713026|PMID:24033266|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26489027|PMID:26862157|PMID:2702088|PMID:28492532|PMID:30029678|PMID:31131822|PMID:32173348|PMID:32335886|PMID:33532864|PMID:34031707|PMID:34295353|PMID:34298581|PMID:9536098 12216993 INVS inversin gene DOID:13580 cholestasis ISO RGD:1557314 D RGD:9068941 20230107 RGD PMID:10421642|REF_RGD_ID:155791685 12216993 INVS inversin gene DOID:14004 thoracic aortic aneurysm ISO RGD:1604022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 12216993 INVS inversin gene DOID:2975 cystic kidney disease ISO RGD:1557314 D RGD:9068941 20230107 RGD PMID:24586938|REF_RGD_ID:155794377 12216993 INVS inversin gene DOID:557 kidney disease ISO RGD:1604022 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:17855640|PMID:24033266|PMID:25741868|PMID:28492532 12216993 INVS inversin gene DOID:630 genetic disease ISO RGD:1604022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12216993 INVS inversin gene DOID:6419 tetralogy of Fallot ISO RGD:1557314 D RGD:9068941 20220825 MouseDO OMIM:187500 12216993 INVS inversin gene DOID:9004898 Jaundice ISO RGD:1557314 D RGD:9068941 20230107 RGD PMID:10421642|REF_RGD_ID:155791685 12217035 USP34 ubiquitin specific peptidase 34 gene DOID:0060224 atrial fibrillation ISO RGD:1318847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12217035 USP34 ubiquitin specific peptidase 34 gene DOID:0060415 chromosome 2p16.1-p15 deletion syndrome ISO RGD:1318847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 2p16.1-p15 deletion syndrome 12217035 USP34 ubiquitin specific peptidase 34 gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:1318847 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:28492532 12217035 USP34 ubiquitin specific peptidase 34 gene DOID:5419 schizophrenia ISO RGD:1318847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12217035 USP34 ubiquitin specific peptidase 34 gene DOID:630 genetic disease ISO RGD:1318847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217117 EXOC1 exocyst complex component 1 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1312667 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 12217117 EXOC1 exocyst complex component 1 gene DOID:630 genetic disease ISO RGD:1312667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217150 TTC27 tetratricopeptide repeat domain 27 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1604350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914|PMID:25741868 12217150 TTC27 tetratricopeptide repeat domain 27 gene DOID:607 paraplegia ISO RGD:1604350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 12217150 TTC27 tetratricopeptide repeat domain 27 gene DOID:630 genetic disease ISO RGD:1604350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217174 HBS1L HBS1 like translational GTPase gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1318318 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12217174 HBS1L HBS1 like translational GTPase gene DOID:12241 beta thalassemia ISO RGD:1318318 D RGD:9068941 20200609 RGD DNA:SNP:exon:32C>T (human) PMID:18839276|REF_RGD_ID:11353877 12217174 HBS1L HBS1 like translational GTPase gene DOID:630 genetic disease ISO RGD:1318318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217204 ANKRD10 ankyrin repeat domain 10 gene DOID:2222 factor X deficiency ISO RGD:1321439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12217204 ANKRD10 ankyrin repeat domain 10 gene DOID:630 genetic disease ISO RGD:1321439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217204 ANKRD10 ankyrin repeat domain 10 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1321439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12217214 PANK2 pantothenate kinase 2 gene DOID:0050572 cone-rod dystrophy ISO RGD:1313038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:11479594|PMID:12510040|PMID:16023068|PMID:28492532 12217214 PANK2 pantothenate kinase 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1313038 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12217214 PANK2 pantothenate kinase 2 gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1313038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 1, atypical PMID:11479594|PMID:12510040|PMID:15565311|PMID:15659606|PMID:15834858|PMID:16023068|PMID:16272150|PMID:16437574|PMID:16450344|PMID:22221393|PMID:22416811|PMID:23166001|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:25802776|PMID:26087139|PMID:26547561|PMID:26795593|PMID:27185474|PMID:28492532|PMID:28708303|PMID:28781879|PMID:29590070 12217214 PANK2 pantothenate kinase 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1313038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11479594|PMID:12510040|PMID:15659606|PMID:15834858|PMID:16272150|PMID:16450344|PMID:22221393|PMID:22416811|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:26497376|PMID:26795593|PMID:28492532|PMID:28708303|PMID:29590070 12217214 PANK2 pantothenate kinase 2 gene DOID:1289 neurodegenerative disease ISO RGD:1313038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:25741868 12217214 PANK2 pantothenate kinase 2 gene DOID:14791 Leber congenital amaurosis ISO RGD:1313038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:12510040|PMID:16437574|PMID:28492532 12217214 PANK2 pantothenate kinase 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1313038 D RGD:7240710 20180130 OMIM 12217214 PANK2 pantothenate kinase 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1313038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:11479594|PMID:12058097|PMID:12510040|PMID:1301187|PMID:14638969|PMID:15465096|PMID:15565311|PMID:15659606|PMID:15747360|PMID:15834858|PMID:15843062|PMID:15911822|PMID:16023068|PMID:16157712|PMID:16199547|PMID:16240131|PMID:16272150|PMID:16437574|PMID:16450344|PMID:1734303|PMID:17576681|PMID:17903678|PMID:18006953|PMID:19224615|PMID:20076801|PMID:20193558|PMID:20497339|PMID:20551478|PMID:20603201|PMID:20629144|PMID:21198414|PMID:21459825|PMID:21480873|PMID:21877312|PMID:22103354|PMID:22127788|PMID:22221393|PMID:22416811|PMID:22547525|PMID:22682757|PMID:23166001|PMID:23634310|PMID:23757202|PMID:23968566|PMID:24033266|PMID:24075960|PMID:24209433|PMID:24215330|PMID:24348190|PMID:24689511|PMID:24712887|PMID:24868354|PMID:25268133|PMID:25741868|PMID:25802776|PMID:25915509|PMID:26087139|PMID:26467025|PMID:26547561|PMID:26795593|PMID:26828213|PMID:27185474|PMID:27815806|PMID:28094106|PMID:28113101|PMID:28357202|PMID:28492532|PMID:28680084|PMID:28708303|PMID:28781879|PMID:28821231|PMID:28845923|PMID:28863176|PMID:28881514|PMID:29590070|PMID:29801903|PMID:30363610|PMID:30681573|PMID:31088771|PMID:31540697|PMID:32043823|PMID:32310012|PMID:32581362|PMID:32654475|PMID:32851917|PMID:33072517|PMID:33098801|PMID:34272103|PMID:7898702|PMID:9536098 12217214 PANK2 pantothenate kinase 2 gene DOID:543 dystonia ISO RGD:1313038 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:11479594|PMID:12058097|PMID:12510040|PMID:1734303|PMID:25741868|PMID:28492532|PMID:32581362 12217214 PANK2 pantothenate kinase 2 gene DOID:630 genetic disease ISO RGD:1313038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11479594|PMID:12058097|PMID:12510040|PMID:14638969|PMID:15565311|PMID:15659606|PMID:15834858|PMID:16199547|PMID:16272150|PMID:16437574|PMID:16450344|PMID:22221393|PMID:22416811|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:25802776|PMID:26087139|PMID:26795593|PMID:27185474|PMID:28492532|PMID:28708303|PMID:28781879|PMID:28863176|PMID:29590070|PMID:31540697|PMID:32654475|PMID:7898702 12217214 PANK2 pantothenate kinase 2 gene DOID:9002955 Nerve Degeneration ISO RGD:1313038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20493851 12217214 PANK2 pantothenate kinase 2 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1313038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 12217214 PANK2 pantothenate kinase 2 gene DOID:9004936 Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration ISO RGD:1313038 D RGD:7240710 20180130 OMIM 12217214 PANK2 pantothenate kinase 2 gene DOID:9004936 Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration ISO RGD:1313038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration PMID:11479594|PMID:12058097|PMID:12510040|PMID:12523119|PMID:14631201|PMID:14638969|PMID:14743358|PMID:15565311|PMID:15659606|PMID:15834858|PMID:16199547|PMID:16272150|PMID:16437574|PMID:16450344|PMID:1734303|PMID:20629144|PMID:22221393|PMID:22416811|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:25802776|PMID:26087139|PMID:26467025|PMID:26795593|PMID:27185474|PMID:28492532|PMID:28708303|PMID:28781879|PMID:28863176|PMID:29590070|PMID:31540697|PMID:32581362|PMID:32654475|PMID:33072517|PMID:7898702 12217224 MRPL1 mitochondrial ribosomal protein L1 gene DOID:630 genetic disease ISO RGD:1315701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217224 MRPL1 mitochondrial ribosomal protein L1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1315701 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12217247 FCER1A Fc epsilon receptor Ia gene DOID:0060500 drug allergy ISO RGD:736318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17125826|PMID:20485159 12217247 FCER1A Fc epsilon receptor Ia gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:736318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12217247 FCER1A Fc epsilon receptor Ia gene DOID:1540 parathyroid carcinoma ISO RGD:736318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12217247 FCER1A Fc epsilon receptor Ia gene DOID:1555 urticaria ISO RGD:736318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481|PMID:20485159 12217247 FCER1A Fc epsilon receptor Ia gene DOID:2841 asthma ISO RGD:736318 D RGD:9068941 20200609 RGD Asthma symptoms persistent despite steroids PMID:21388666|REF_RGD_ID:5128711 12217247 FCER1A Fc epsilon receptor Ia gene DOID:2841 asthma severity ISO RGD:736318 D RGD:9068941 20200609 RGD Fatal asthma subjects PMID:20937062|REF_RGD_ID:5128717 12217247 FCER1A Fc epsilon receptor Ia gene DOID:4483 rhinitis ISO RGD:736318 D RGD:9068941 20200609 RGD PMID:20650300|REF_RGD_ID:5128714 12217247 FCER1A Fc epsilon receptor Ia gene DOID:630 genetic disease ISO RGD:736318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217247 FCER1A Fc epsilon receptor Ia gene DOID:9005236 Drug Eruptions ISO RGD:736318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 12217247 FCER1A Fc epsilon receptor Ia gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12217256 GEMIN5 gem nuclear organelle associated protein 5 gene DOID:4990 essential tremor ISO RGD:1321352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 12217256 GEMIN5 gem nuclear organelle associated protein 5 gene DOID:630 genetic disease ISO RGD:1321352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:33963192|PMID:35295849 12217256 GEMIN5 gem nuclear organelle associated protein 5 gene DOID:9000830 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION ISO RGD:1321352 D RGD:7240710 20210818 OMIM 12217256 GEMIN5 gem nuclear organelle associated protein 5 gene DOID:9000830 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION ISO RGD:1321352 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction PMID:25741868|PMID:28492532|PMID:33963192 12217290 L3MBTL2 L3MBTL histone methyl-lysine binding protein 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1318418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12217290 L3MBTL2 L3MBTL histone methyl-lysine binding protein 2 gene DOID:0050902 medulloblastoma ISO RGD:1318418 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 12217290 L3MBTL2 L3MBTL histone methyl-lysine binding protein 2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1318418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 12217290 L3MBTL2 L3MBTL histone methyl-lysine binding protein 2 gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1318418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:28492532 12217290 L3MBTL2 L3MBTL histone methyl-lysine binding protein 2 gene DOID:630 genetic disease ISO RGD:1318418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217320 RWDD2A RWD domain containing 2A gene DOID:0111953 immunodeficiency 23 ISO RGD:1314728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:24931394 12217320 RWDD2A RWD domain containing 2A gene DOID:630 genetic disease ISO RGD:1314728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217332 LOC482199 butyrophilin-like protein 10 gene DOID:630 genetic disease ISO RGD:1349753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217340 FBXO41 F-box protein 41 gene DOID:0050473 Alstrom syndrome ISO RGD:1351223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 12217340 FBXO41 F-box protein 41 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1351223 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12217340 FBXO41 F-box protein 41 gene DOID:543 dystonia ISO RGD:1351223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12217340 FBXO41 F-box protein 41 gene DOID:630 genetic disease ISO RGD:1351223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217340 FBXO41 F-box protein 41 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1351223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12217357 RAB27B RAB27B, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:732208 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12217357 RAB27B RAB27B, member RAS oncogene family gene DOID:11054 urinary bladder cancer ISO RGD:732208 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 12217357 RAB27B RAB27B, member RAS oncogene family gene DOID:2223 platelet storage pool deficiency ISO RGD:1553220 D RGD:9068941 20220825 MouseDO OMIM:185050 12217357 RAB27B RAB27B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:732208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217357 RAB27B RAB27B, member RAS oncogene family gene DOID:9000918 Disease Progression ISO RGD:732208 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 12217357 RAB27B RAB27B, member RAS oncogene family gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732208 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 12217374 KLF12 KLF transcription factor 12 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1319416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12217374 KLF12 KLF transcription factor 12 gene DOID:303 substance-related disorder ISO RGD:1319416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12217374 KLF12 KLF transcription factor 12 gene DOID:5419 schizophrenia ISO RGD:1319416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12217374 KLF12 KLF transcription factor 12 gene DOID:630 genetic disease ISO RGD:1319416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217404 IL17RA interleukin 17 receptor A gene DOID:0111996 immunodeficiency 51 ISO RGD:1315246 D RGD:7240710 20180130 OMIM 12217404 IL17RA interleukin 17 receptor A gene DOID:0111996 immunodeficiency 51 ISO RGD:1315246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 | ClinVar Annotator: match by term: Immunodeficiency 51 PMID:16199547|PMID:17576681|PMID:21350122|PMID:24033266|PMID:24552284|PMID:24552285|PMID:25741868|PMID:26607704|PMID:26871944|PMID:27930337|PMID:28492532|PMID:9536098 12217404 IL17RA interleukin 17 receptor A gene DOID:10533 viral pneumonia ISO RGD:1315246 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12217404 IL17RA interleukin 17 receptor A gene DOID:2058 chronic mucocutaneous candidiasis ISO RGD:1315246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Candidiasis, Recessive PMID:24033266|PMID:25741868|PMID:28492532 12217404 IL17RA interleukin 17 receptor A gene DOID:2316 brain ischemia ISO RGD:1315246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 12217404 IL17RA interleukin 17 receptor A gene DOID:630 genetic disease ISO RGD:1315246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12217404 IL17RA interleukin 17 receptor A gene DOID:841 extrinsic allergic alveolitis ISO RGD:1315247 D RGD:9068941 20200609 RGD PMID:19414809|REF_RGD_ID:5144217 12217404 IL17RA interleukin 17 receptor A gene DOID:8893 psoriasis ISO RGD:1315246 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Psoriasis 12217404 IL17RA interleukin 17 receptor A gene DOID:9001488 Human Influenza ISO RGD:1315247 D RGD:9068941 20200609 RGD PMID:19783685|REF_RGD_ID:4889102 12217404 IL17RA interleukin 17 receptor A gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1306559 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 12217404 IL17RA interleukin 17 receptor A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12217404 IL17RA interleukin 17 receptor A gene DOID:9005372 Inflammation ISO RGD:1315246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29724254 12217404 IL17RA interleukin 17 receptor A gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1315246 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12217404 IL17RA interleukin 17 receptor A gene DOID:9675 pulmonary emphysema ISO RGD:1315247 D RGD:9068941 20200609 RGD PMID:21647421|REF_RGD_ID:5144212 12217419 ONECUT1 one cut homeobox 1 gene DOID:0050770 polycystic liver disease ISO RGD:732947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 12217419 ONECUT1 one cut homeobox 1 gene DOID:2717 Bloom syndrome ISO RGD:732947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12217419 ONECUT1 one cut homeobox 1 gene DOID:607 paraplegia ISO RGD:732947 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 12217419 ONECUT1 one cut homeobox 1 gene DOID:630 genetic disease ISO RGD:732947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217419 ONECUT1 one cut homeobox 1 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:732947 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 12217419 ONECUT1 one cut homeobox 1 gene DOID:9256 colorectal cancer ISO RGD:732947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 12217425 GPRIN3 GPRIN family member 3 gene DOID:630 genetic disease ISO RGD:1604710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217425 GPRIN3 GPRIN family member 3 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1604710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12217437 KAT2A lysine acetyltransferase 2A gene DOID:0080074 neural tube defect ISO RGD:1316320 D RGD:9068941 20200609 RGD DNA:missense mutations:exons:p.E568A, p.D609A (mouse) PMID:17325035|REF_RGD_ID:9590240 12217437 KAT2A lysine acetyltransferase 2A gene DOID:2043 hepatitis B treatment ISO RGD:1316320 D RGD:9068941 20200609 RGD PMID:23913178|REF_RGD_ID:9590262 12217437 KAT2A lysine acetyltransferase 2A gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1316319 D RGD:9068941 20200609 RGD PMID:23543735|REF_RGD_ID:9590260 12217437 KAT2A lysine acetyltransferase 2A gene DOID:630 genetic disease ISO RGD:1316319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217437 KAT2A lysine acetyltransferase 2A gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1316320 D RGD:9068941 20200609 RGD protein:increased expression:retina (mouse) PMID:15932940|REF_RGD_ID:9590239 12217468 KRT34 keratin 34 gene DOID:630 genetic disease ISO RGD:1350893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217479 KRT33A keratin 33A gene DOID:10283 prostate cancer ISO RGD:1314759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12217479 KRT33A keratin 33A gene DOID:630 genetic disease ISO RGD:1314759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217493 FHL1 four and a half LIM domains 1 gene DOID:0060022 CD40 ligand deficiency ISO RGD:1342641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12217493 FHL1 four and a half LIM domains 1 gene DOID:0060253 scapuloperoneal myopathy ISO RGD:10588 D RGD:9068941 20220825 MouseDO OMIM:181430 | OMIM:300695 12217493 FHL1 four and a half LIM domains 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12217493 FHL1 four and a half LIM domains 1 gene DOID:0060825 Christianson syndrome ISO RGD:1342641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12217493 FHL1 four and a half LIM domains 1 gene DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 ISO RGD:1342641 D RGD:7240710 20180130 OMIM 12217493 FHL1 four and a half LIM domains 1 gene DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 ISO RGD:1342641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 6 | ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy PMID:16199547|PMID:17576681|PMID:18179888|PMID:18179901|PMID:18274675|PMID:19171836|PMID:19181672|PMID:19377476|PMID:19687455|PMID:19716112|PMID:20186852|PMID:20571991|PMID:20633900|PMID:21520333|PMID:21629301|PMID:21683594|PMID:22094483|PMID:22523091|PMID:22923418|PMID:23169582|PMID:23500067|PMID:24114807|PMID:24634512|PMID:25191266|PMID:25246303|PMID:25274776|PMID:25741868|PMID:26265627|PMID:26467025|PMID:26627873|PMID:26857240|PMID:27409453|PMID:27443559|PMID:27532257|PMID:27841901|PMID:28444561|PMID:28492532|PMID:28611399|PMID:28694073|PMID:29434030|PMID:29926425|PMID:31204143|PMID:31273321|PMID:31568572|PMID:31803991|PMID:32001145|PMID:32102154|PMID:32587768|PMID:32815737|PMID:7722535|PMID:9536098 12217493 FHL1 four and a half LIM domains 1 gene DOID:0080090 reducing body myopathy 1A ISO RGD:1342641 D RGD:7240710 20180130 OMIM 12217493 FHL1 four and a half LIM domains 1 gene DOID:0080090 reducing body myopathy 1A ISO RGD:1342641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, reducing body, X-linked, early-onset, severe PMID:18274675|PMID:19171836|PMID:19181672|PMID:19716112|PMID:20633900|PMID:24634512|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7722535 12217493 FHL1 four and a half LIM domains 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25246303|PMID:26857240|PMID:28492532 12217493 FHL1 four and a half LIM domains 1 gene DOID:0080687 reducing body myopathy 1B ISO RGD:1342641 D RGD:7240710 20180130 OMIM 12217493 FHL1 four and a half LIM domains 1 gene DOID:0080687 reducing body myopathy 1B ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, reducing body, X-linked, childhood-onset PMID:16919903|PMID:18274675|PMID:18952429|PMID:19171836|PMID:20571991|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31273321|PMID:31803991|PMID:32001145 12217493 FHL1 four and a half LIM domains 1 gene DOID:0080687 reducing body myopathy 1B ISO RGD:1342641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, reducing body, X-linked, childhood-onset PMID:16919903|PMID:18274675|PMID:18952429|PMID:19171836|PMID:19716112|PMID:20571991|PMID:21520333|PMID:24634512|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31273321|PMID:31803991|PMID:32001145 12217493 FHL1 four and a half LIM domains 1 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1342641 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532 12217493 FHL1 four and a half LIM domains 1 gene DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome ISO RGD:1342641 D RGD:7240710 20200401 OMIM 12217493 FHL1 four and a half LIM domains 1 gene DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome ISO RGD:1342641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Uruguay Faciocardiomusculoskeletal syndrome PMID:11102932|PMID:19716112|PMID:24634512|PMID:25741868|PMID:26467025|PMID:26933038|PMID:28492532 12217493 FHL1 four and a half LIM domains 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12217493 FHL1 four and a half LIM domains 1 gene DOID:12849 autistic disorder ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12217493 FHL1 four and a half LIM domains 1 gene DOID:630 genetic disease ISO RGD:1342641 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12217493 FHL1 four and a half LIM domains 1 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1342641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12217493 FHL1 four and a half LIM domains 1 gene DOID:9001526 X-Linked Scapuloperoneal Muscular Dystrophy ISO RGD:1342641 D RGD:7240710 20180130 OMIM 12217493 FHL1 four and a half LIM domains 1 gene DOID:9001526 X-Linked Scapuloperoneal Muscular Dystrophy ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scapuloperoneal myopathy, X-linked dominant | ClinVar Annotator: match by term: X-linked scapuloperoneal muscular dystrophy PMID:18179888|PMID:18179901|PMID:19181672|PMID:21629301|PMID:25274776|PMID:25741868|PMID:26467025|PMID:26752647|PMID:28492532|PMID:30260394 12217493 FHL1 four and a half LIM domains 1 gene DOID:9001526 X-Linked Scapuloperoneal Muscular Dystrophy ISO RGD:1342641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Scapuloperoneal myopathy, X-linked dominant | ClinVar Annotator: match by term: X-linked scapuloperoneal muscular dystrophy PMID:18179888|PMID:18179901|PMID:19181672|PMID:19716112|PMID:21629301|PMID:24634512|PMID:25274776|PMID:25741868|PMID:26467025|PMID:26752647|PMID:28492532|PMID:30260394 12217493 FHL1 four and a half LIM domains 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342641 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12217493 FHL1 four and a half LIM domains 1 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1342641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12217493 FHL1 four and a half LIM domains 1 gene DOID:9005532 Muscle Weakness ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868 12217493 FHL1 four and a half LIM domains 1 gene DOID:9775 diastolic heart failure ISO RGD:1342641 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12217516 DPPA4 developmental pluripotency associated 4 gene DOID:10283 prostate cancer ISO RGD:1343152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12217525 CEP78 centrosomal protein 78 gene DOID:0050572 cone-rod dystrophy ISO RGD:1346976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868 12217525 CEP78 centrosomal protein 78 gene DOID:0080075 Neu-Laxova syndrome 2 ISO RGD:1346976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neu-Laxova syndrome 2 PMID:17436247|PMID:25152457|PMID:28492532 12217525 CEP78 centrosomal protein 78 gene DOID:0080600 COVID-19 ISO RGD:1346976 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12217525 CEP78 centrosomal protein 78 gene DOID:10003 sensorineural hearing loss ISO RGD:1346976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:27588451|PMID:27588452|PMID:27627988|PMID:28492532 12217525 CEP78 centrosomal protein 78 gene DOID:630 genetic disease ISO RGD:1346976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12217525 CEP78 centrosomal protein 78 gene DOID:8501 fundus dystrophy ISO RGD:1346976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:27588451|PMID:27588452|PMID:27627988|PMID:28492532 12217525 CEP78 centrosomal protein 78 gene DOID:9000376 Cone-Rod Dystrophy and Hearing Loss 1 ISO RGD:1346976 D RGD:7240710 20220105 OMIM 12217525 CEP78 centrosomal protein 78 gene DOID:9000376 Cone-Rod Dystrophy and Hearing Loss 1 ISO RGD:1346976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 1 PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:27588451|PMID:27588452|PMID:27627988|PMID:28492532|PMID:31999394|PMID:34259627|PMID:9536098 12217549 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:0050700 cardiomyopathy ISO RGD:732730 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20378996 12217549 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:0070355 overactive bladder syndrome ISO RGD:732730 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16322346 12217549 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:0080855 Parkinsonism ISO RGD:2037 D RGD:9068941 20200609 RGD PMID:16888218|REF_RGD_ID:2325295 12217549 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:2037 D RGD:9068941 20200609 RGD PMID:15702783|REF_RGD_ID:2325308 12217549 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:12849 autistic disorder ISO RGD:732730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12217549 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:1679 cystitis ISO RGD:2037 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder urothelium PMID:18563302|REF_RGD_ID:2315964 12217549 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:2018 hyperinsulinism ISO RGD:10084 D RGD:9068941 20200609 RGD PMID:14742740|REF_RGD_ID:2325255 12217549 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:3602 toxic encephalopathy ISO RGD:732730 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29604313 12217549 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12217549 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:630 genetic disease ISO RGD:732730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217549 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2037 D RGD:9068941 20200609 RGD PMID:15913892|REF_RGD_ID:2325306 12217549 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2037 D RGD:9068941 20200609 RGD protein:altered expression:spinal cord,dorsal root ganglion, urinary bladder PMID:15698618|REF_RGD_ID:2325309 12217549 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:9000998 Brain Injuries ISO RGD:2037 D RGD:9068941 20200609 RGD PMID:16689670|REF_RGD_ID:2325298 12217549 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:9001366 Psychomotor Agitation ISO RGD:732730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17658665 12217549 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:9002221 Hyperplasia ISO RGD:10084 D RGD:9068941 20200609 RGD PMID:14742740|REF_RGD_ID:2325255 12217549 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:9003165 Miosis ISO RGD:732730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8637627 12217549 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:9004001 Facial Nerve Injuries ISO RGD:2037 D RGD:9068941 20200609 RGD mRNA:increased expression:facial VII nucleus PMID:19427307|REF_RGD_ID:2325258 12217549 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2037 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampal granule cell PMID:19647005|REF_RGD_ID:2315956 12217549 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12217549 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2037 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, hypothalamus PMID:9864055|REF_RGD_ID:2325314 12217549 ADCYAP1 adenylate cyclase activating polypeptide 1 gene DOID:9009039 Hyperemia ISO RGD:732730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8637627 12217563 WBP1L WW domain binding protein 1 like gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1314041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:22508808|PMID:25403219|PMID:28492532|PMID:31639285 12217563 WBP1L WW domain binding protein 1 like gene DOID:630 genetic disease ISO RGD:1314041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217575 IL18R1 interleukin 18 receptor 1 gene DOID:0080685 aortic dissection ISO RGD:1318449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:34409081 12217575 IL18R1 interleukin 18 receptor 1 gene DOID:13241 Behcet's disease ISO RGD:1318449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Behcet disease PMID:25741868 12217575 IL18R1 interleukin 18 receptor 1 gene DOID:13406 pulmonary sarcoidosis severity ISO RGD:1318449 D RGD:9068941 20200609 RGD PMID:14641797|REF_RGD_ID:5024944 12217575 IL18R1 interleukin 18 receptor 1 gene DOID:2841 asthma ISO RGD:1318449 D RGD:9068941 20200609 RGD PMID:19910030|REF_RGD_ID:5024945 12217575 IL18R1 interleukin 18 receptor 1 gene DOID:2841 asthma ISO RGD:1318449 D RGD:9068941 20200609 RGD DNA:SNP: :rs3771166 (human) PMID:20860503|REF_RGD_ID:5024942 12217575 IL18R1 interleukin 18 receptor 1 gene DOID:2841 asthma ISO RGD:1318449 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18382474|PMID:18774397|REF_RGD_ID:5024946|REF_RGD_ID:5024947 12217575 IL18R1 interleukin 18 receptor 1 gene DOID:2841 asthma ISO RGD:1318450 D RGD:9068941 20200609 RGD PMID:11972614|REF_RGD_ID:5024948 12217575 IL18R1 interleukin 18 receptor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1318449 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15308504|REF_RGD_ID:4889841 12217575 IL18R1 interleukin 18 receptor 1 gene DOID:417 autoimmune disease ISO RGD:1318450 D RGD:9068941 20200609 RGD PMID:15470078|REF_RGD_ID:5024943 12217575 IL18R1 interleukin 18 receptor 1 gene DOID:630 genetic disease ISO RGD:1318449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217575 IL18R1 interleukin 18 receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1318449 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:26893476|REF_RGD_ID:11538094 12217575 IL18R1 interleukin 18 receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1318450 D RGD:9068941 20200609 RGD PMID:26893476|REF_RGD_ID:11538094 12217575 IL18R1 interleukin 18 receptor 1 gene DOID:850 lung disease ISO RGD:1318449 D RGD:9068941 20200609 RGD Lung Injury;protein:increased expression:lung PMID:19265174|REF_RGD_ID:4889574 12217575 IL18R1 interleukin 18 receptor 1 gene DOID:850 lung disease ISO RGD:1318450 D RGD:9068941 20200609 RGD Lung Injury PMID:19265174|REF_RGD_ID:4889574 12217575 IL18R1 interleukin 18 receptor 1 gene DOID:9000998 Brain Injuries ISO RGD:1318449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 12217575 IL18R1 interleukin 18 receptor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1308589 D RGD:9068941 20200609 RGD mRNA:increased expression:lymph node PMID:19269041|REF_RGD_ID:2311529 12217592 PPP1R14C protein phosphatase 1 regulatory inhibitor subunit 14C gene DOID:0080599 Coronavirus infectious disease ISO RGD:735967 D RGD:9068941 20220825 MouseDO 12217592 PPP1R14C protein phosphatase 1 regulatory inhibitor subunit 14C gene DOID:630 genetic disease ISO RGD:735966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217607 INTS5 integrator complex subunit 5 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1603295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 12217607 INTS5 integrator complex subunit 5 gene DOID:0110860 polycystic kidney disease 3 ISO RGD:1603295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 3 12217607 INTS5 integrator complex subunit 5 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12217607 INTS5 integrator complex subunit 5 gene DOID:1059 intellectual disability ISO RGD:1603295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12217607 INTS5 integrator complex subunit 5 gene DOID:630 genetic disease ISO RGD:1603295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217613 METRN meteorin, glial cell differentiation regulator gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1353878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12217613 METRN meteorin, glial cell differentiation regulator gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1353878 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12217613 METRN meteorin, glial cell differentiation regulator gene DOID:1826 epilepsy ISO RGD:1353878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12217613 METRN meteorin, glial cell differentiation regulator gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1353878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12217613 METRN meteorin, glial cell differentiation regulator gene DOID:630 genetic disease ISO RGD:1353878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217628 SNX12 sorting nexin 12 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12217628 SNX12 sorting nexin 12 gene DOID:12849 autistic disorder ISO RGD:1350610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12217628 SNX12 sorting nexin 12 gene DOID:630 genetic disease ISO RGD:1350610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217628 SNX12 sorting nexin 12 gene DOID:9007898 FG Syndrome 1 ISO RGD:1350610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 12217646 INPP5F inositol polyphosphate-5-phosphatase F gene DOID:630 genetic disease ISO RGD:1314013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217767 ADRB3 adrenoceptor beta 3 gene DOID:0060180 colitis ISO RGD:2061 D RGD:9068941 20200609 RGD mRNA:decreased expression:distal colon, mucosa (rat) PMID:18492028|REF_RGD_ID:5684890 12217767 ADRB3 adrenoceptor beta 3 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R (rs4994) (human) PMID:15318095|REF_RGD_ID:5684892 12217767 ADRB3 adrenoceptor beta 3 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:737467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 12217767 ADRB3 adrenoceptor beta 3 gene DOID:0110429 dilated cardiomyopathy 1H susceptibility ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype:cds:p.W64R rs4994 (human) PMID:20123316|REF_RGD_ID:5684357 12217767 ADRB3 adrenoceptor beta 3 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:737467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 12217767 ADRB3 adrenoceptor beta 3 gene DOID:10652 Alzheimer's disease ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R (human) PMID:17440948|REF_RGD_ID:2311642 12217767 ADRB3 adrenoceptor beta 3 gene DOID:10763 hypertension ISO RGD:737467 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.W64R (human) PMID:10981554|REF_RGD_ID:2313166 12217767 ADRB3 adrenoceptor beta 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:2061 D RGD:9068941 20200609 RGD mRNA:increased expression:gastrointestinal system mesentery, adipose tissue PMID:19158405|REF_RGD_ID:2313167 12217767 ADRB3 adrenoceptor beta 3 gene DOID:1168 familial hyperlipidemia ISO RGD:737467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16027735 12217767 ADRB3 adrenoceptor beta 3 gene DOID:13025 retinopathy of prematurity ISO RGD:10110 D RGD:9068941 20200609 RGD protein:increased expression:retina (mouse) PMID:20739470|REF_RGD_ID:5684355 12217767 ADRB3 adrenoceptor beta 3 gene DOID:13189 gout ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:21285172|REF_RGD_ID:5684422 12217767 ADRB3 adrenoceptor beta 3 gene DOID:1380 endometrial cancer susceptibility ISO RGD:737467 D RGD:9068941 20200609 RGD associated with Obesity;DNA:polymorphism: :p.W64R (human) PMID:15743038|REF_RGD_ID:2313164 12217767 ADRB3 adrenoceptor beta 3 gene DOID:1485 cystic fibrosis ISO RGD:737467 D RGD:9068941 20200609 RGD protein:increased expression:bronchus PMID:20203292|REF_RGD_ID:5129107 12217767 ADRB3 adrenoceptor beta 3 gene DOID:2018 hyperinsulinism ISO RGD:10110 D RGD:9068941 20200609 RGD associated with Obesity;mRNA:decreased expression:epidydimis, white fat PMID:11014217|REF_RGD_ID:2313165 12217767 ADRB3 adrenoceptor beta 3 gene DOID:3393 coronary artery disease ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R (human) PMID:9126344|REF_RGD_ID:1559325 12217767 ADRB3 adrenoceptor beta 3 gene DOID:3393 coronary artery disease no_association ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:11229427|REF_RGD_ID:5684412 12217767 ADRB3 adrenoceptor beta 3 gene DOID:6000 congestive heart failure ISO RGD:2061 D RGD:9068941 20200609 RGD protein:increased expression:heart ventricle (rat) PMID:21549119|REF_RGD_ID:5684917 12217767 ADRB3 adrenoceptor beta 3 gene DOID:6000 congestive heart failure ISO RGD:737467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15009959|PMID:17440824 12217767 ADRB3 adrenoceptor beta 3 gene DOID:6000 congestive heart failure ISO RGD:737467 D RGD:9068941 20200609 RGD protein:increased expression:left ventricle, myocardium (human) PMID:11273992|REF_RGD_ID:5684398 12217767 ADRB3 adrenoceptor beta 3 gene DOID:607 paraplegia ISO RGD:737467 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12217767 ADRB3 adrenoceptor beta 3 gene DOID:630 genetic disease ISO RGD:737467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12217767 ADRB3 adrenoceptor beta 3 gene DOID:7148 rheumatoid arthritis ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:12739037|REF_RGD_ID:5684893 12217767 ADRB3 adrenoceptor beta 3 gene DOID:8947 diabetic retinopathy ISO RGD:737467 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:9313761|REF_RGD_ID:5684400 12217767 ADRB3 adrenoceptor beta 3 gene DOID:9000099 Experimental Colitis no_association ISO RGD:2061 D RGD:9068941 20200609 RGD mRNA:unaltered expression:colon (rat) PMID:11803250|REF_RGD_ID:5684894 12217767 ADRB3 adrenoceptor beta 3 gene DOID:9000528 Coronary Disease ISO RGD:737467 D RGD:9068941 20200609 RGD PMID:10421225|REF_RGD_ID:1559326 12217767 ADRB3 adrenoceptor beta 3 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:737467 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.W64R rs4994(human) PMID:20536507|REF_RGD_ID:5684776 12217767 ADRB3 adrenoceptor beta 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2061 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:19785950|REF_RGD_ID:5129118 12217767 ADRB3 adrenoceptor beta 3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737467 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:9867224|REF_RGD_ID:5684403 12217767 ADRB3 adrenoceptor beta 3 gene DOID:9004484 Sepsis ISO RGD:737467 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart left ventricle (human) PMID:17999941|REF_RGD_ID:2292119 12217767 ADRB3 adrenoceptor beta 3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17345787 12217767 ADRB3 adrenoceptor beta 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2061 D RGD:9068941 20200609 RGD protein:increased expression:left ventricle muscular part PMID:21054861|REF_RGD_ID:5129115 12217767 ADRB3 adrenoceptor beta 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17622774 12217767 ADRB3 adrenoceptor beta 3 gene DOID:9007692 Insulin Resistance ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:10582543|REF_RGD_ID:5684421 12217767 ADRB3 adrenoceptor beta 3 gene DOID:9007692 Insulin Resistance ISO RGD:737467 D RGD:9068941 20200609 RGD associated with Obesity;DNA:polymorphism: :p.W64R (human) PMID:17299491|REF_RGD_ID:2313158 12217767 ADRB3 adrenoceptor beta 3 gene DOID:9007692 Insulin Resistance no_association ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:10421225|REF_RGD_ID:1559326 12217767 ADRB3 adrenoceptor beta 3 gene DOID:9008856 HIV-Associated Lipodystrophy Syndrome ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:10930169|REF_RGD_ID:5684895 12217767 ADRB3 adrenoceptor beta 3 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:19659999|REF_RGD_ID:2313148 12217767 ADRB3 adrenoceptor beta 3 gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.I62M (human) PMID:16444766|REF_RGD_ID:2313163 12217767 ADRB3 adrenoceptor beta 3 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.W64R (human) PMID:17727676|REF_RGD_ID:2313149 12217767 ADRB3 adrenoceptor beta 3 gene DOID:9970 obesity ISO RGD:737467 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Obesity PMID:10323390|PMID:10323402|PMID:10999801|PMID:11095426|PMID:15472194|PMID:25741868|PMID:7609750|PMID:7609752|PMID:8903328|PMID:8954053|PMID:9054940|PMID:9100608|PMID:9112025|PMID:9449691|PMID:9709965|PMID:9814483|PMID:9892244 12217767 ADRB3 adrenoceptor beta 3 gene DOID:9970 obesity no_association ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:11882399|REF_RGD_ID:5684409 12217767 ADRB3 adrenoceptor beta 3 gene DOID:9970 obesity susceptibility ISO RGD:737467 D RGD:7240710 20230505 OMIM 12217771 AQP11 aquaporin 11 gene DOID:1059 intellectual disability ISO RGD:736750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12217771 AQP11 aquaporin 11 gene DOID:630 genetic disease ISO RGD:736750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217779 PLEKHA7 pleckstrin homology domain containing A7 gene DOID:0050851 glomerulosclerosis ISO RGD:1598216 D RGD:9068941 20200609 RGD PMID:25136115|REF_RGD_ID:11079199 12217779 PLEKHA7 pleckstrin homology domain containing A7 gene DOID:0050851 glomerulosclerosis ameliorates ISO XCO:0000795 D RGD:9068941 20220204 RGD compared to wild type PMID:25136115|REF_RGD_ID:11079199 12217779 PLEKHA7 pleckstrin homology domain containing A7 gene DOID:1059 intellectual disability ISO RGD:1350975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12217779 PLEKHA7 pleckstrin homology domain containing A7 gene DOID:10763 hypertension ameliorates ISO XCO:0000795 D RGD:9068941 20210416 RGD PMID:25136115|REF_RGD_ID:11079199 12217779 PLEKHA7 pleckstrin homology domain containing A7 gene DOID:13550 angle-closure glaucoma ISO RGD:1350975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22922875|PMID:27064256 12217779 PLEKHA7 pleckstrin homology domain containing A7 gene DOID:630 genetic disease ISO RGD:1350975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217779 PLEKHA7 pleckstrin homology domain containing A7 gene DOID:9003139 Cardiac Fibrosis ISO RGD:1598216 D RGD:9068941 20200609 RGD PMID:25136115|REF_RGD_ID:11079199 12217779 PLEKHA7 pleckstrin homology domain containing A7 gene DOID:9003139 Cardiac Fibrosis ameliorates ISO XCO:0000795 D RGD:9068941 20220204 RGD compared to wild type PMID:25136115|REF_RGD_ID:11079199 12217779 PLEKHA7 pleckstrin homology domain containing A7 gene DOID:9296 cleft lip ISO RGD:1350975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft lip with or without cleft palate PMID:29805042 12217828 RAD1 RAD1 checkpoint DNA exonuclease gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:1315145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 12217828 RAD1 RAD1 checkpoint DNA exonuclease gene DOID:630 genetic disease ISO RGD:1315145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217828 RAD1 RAD1 checkpoint DNA exonuclease gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12217844 ANGPTL2 angiopoietin like 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12217844 ANGPTL2 angiopoietin like 2 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:733949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12217844 ANGPTL2 angiopoietin like 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12217844 ANGPTL2 angiopoietin like 2 gene DOID:10223 dermatomyositis ISO RGD:733950 D RGD:9068941 20220825 MouseDO 12217844 ANGPTL2 angiopoietin like 2 gene DOID:630 genetic disease ISO RGD:733949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217853 SYTL5 synaptotagmin like 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12217853 SYTL5 synaptotagmin like 5 gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:736279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:22929960|PMID:27701760|PMID:28492532 12217853 SYTL5 synaptotagmin like 5 gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:736279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 12217853 SYTL5 synaptotagmin like 5 gene DOID:12849 autistic disorder ISO RGD:736279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12217853 SYTL5 synaptotagmin like 5 gene DOID:630 genetic disease ISO RGD:736279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217853 SYTL5 synaptotagmin like 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12217853 SYTL5 synaptotagmin like 5 gene DOID:9007661 Dwarfism ISO RGD:736279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12217853 SYTL5 synaptotagmin like 5 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:736279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16786505|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 12217853 SYTL5 synaptotagmin like 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:736279 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12217893 HOXA9 homeobox A9 gene DOID:0060739 hand-foot-genital syndrome ISO RGD:1320652 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hand-foot-genital syndrome 12217893 HOXA9 homeobox A9 gene DOID:11054 urinary bladder cancer ISO RGD:1320652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26332997 12217893 HOXA9 homeobox A9 gene DOID:1909 melanoma ISO RGD:1320652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 12217893 HOXA9 homeobox A9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12217893 HOXA9 homeobox A9 gene DOID:630 genetic disease ISO RGD:1320652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217893 HOXA9 homeobox A9 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1320652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26332997 12217893 HOXA9 homeobox A9 gene DOID:9119 acute myeloid leukemia ISO RGD:1320652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22541086 12217902 RFTN1 raftlin, lipid raft linker 1 gene DOID:0060417 3p deletion syndrome ISO RGD:1604380 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12217902 RFTN1 raftlin, lipid raft linker 1 gene DOID:1686 glaucoma ISO RGD:1563347 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (rat) PMID:28990066|REF_RGD_ID:155630605 12217902 RFTN1 raftlin, lipid raft linker 1 gene DOID:1686 glaucoma ISO RGD:1604380 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (human) PMID:28990066|REF_RGD_ID:155630605 12217902 RFTN1 raftlin, lipid raft linker 1 gene DOID:630 genetic disease ISO RGD:1604380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217915 VAMP1 vesicle associated membrane protein 1 gene DOID:0050772 spastic ataxia 1 ISO RGD:736120 D RGD:7240710 20180130 OMIM 12217915 VAMP1 vesicle associated membrane protein 1 gene DOID:0050772 spastic ataxia 1 ISO RGD:736120 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spastic ataxia 1 PMID:11774073|PMID:22958904|PMID:25741868|PMID:26467025|PMID:28168212|PMID:28492532 12217915 VAMP1 vesicle associated membrane protein 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:736120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12217915 VAMP1 vesicle associated membrane protein 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:736120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12217915 VAMP1 vesicle associated membrane protein 1 gene DOID:0111621 Temtamy syndrome ISO RGD:736120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12217915 VAMP1 vesicle associated membrane protein 1 gene DOID:3635 congenital myasthenic syndrome ISO RGD:736120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:28253535 12217915 VAMP1 vesicle associated membrane protein 1 gene DOID:607 paraplegia ISO RGD:736120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:11774073|PMID:17576681|PMID:22958904|PMID:25741868|PMID:26467025|PMID:28168212|PMID:28253535|PMID:28492532|PMID:30293248|PMID:33631708|PMID:9536098 12217915 VAMP1 vesicle associated membrane protein 1 gene DOID:9004718 Congenital Myasthenic Syndrome 25 ISO RGD:736120 D RGD:7240710 20190315 OMIM 12217915 VAMP1 vesicle associated membrane protein 1 gene DOID:9004718 Congenital Myasthenic Syndrome 25 ISO RGD:736120 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 25, presynaptic PMID:25741868|PMID:26467025|PMID:28168212|PMID:28253535|PMID:28492532|PMID:28600779 12217915 VAMP1 vesicle associated membrane protein 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:736120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12217931 ZKSCAN5 zinc finger with KRAB and SCAN domains 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12217931 ZKSCAN5 zinc finger with KRAB and SCAN domains 5 gene DOID:630 genetic disease ISO RGD:1322493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217964 MOSPD2 motile sperm domain containing 2 gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1350806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 12217964 MOSPD2 motile sperm domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1350806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12217964 MOSPD2 motile sperm domain containing 2 gene DOID:13636 Fanconi anemia ISO RGD:1350806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 12217964 MOSPD2 motile sperm domain containing 2 gene DOID:630 genetic disease ISO RGD:1350806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12217964 MOSPD2 motile sperm domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12217989 INTS2 integrator complex subunit 2 gene DOID:11372 megacolon ISO RGD:1606257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12217989 INTS2 integrator complex subunit 2 gene DOID:630 genetic disease ISO RGD:1606257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218028 ASCL4 achaete-scute family bHLH transcription factor 4 gene DOID:630 genetic disease ISO RGD:1316784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218033 CTSA cathepsin A gene DOID:0080540 galactosialidosis ISO RGD:1319205 D RGD:7240710 20180130 OMIM 12218033 CTSA cathepsin A gene DOID:0080540 galactosialidosis ISO RGD:1319205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase | ClinVar Annotator: match by term: Galactosialidosis, adult | ClinVar Annotator: match by term: Galactosialidosis, early infantile | ClinVar Annotator: match by term: Galactosialidosis, late infantile PMID:10333491|PMID:10571006|PMID:10944848|PMID:12649068|PMID:15110321|PMID:16199547|PMID:16538002|PMID:1756715|PMID:17576681|PMID:18937050|PMID:2148053|PMID:22386972|PMID:23806086|PMID:23915561|PMID:24033266|PMID:24088042|PMID:24769197|PMID:24779613|PMID:25075748|PMID:25741868|PMID:26036949|PMID:26259553|PMID:27664989|PMID:27848944|PMID:28334938|PMID:28454995|PMID:28492532|PMID:28603679|PMID:28702507|PMID:29333829|PMID:29876240|PMID:3149149|PMID:32036093|PMID:8514852|PMID:8968752|PMID:9536098|PMID:9603439 12218033 CTSA cathepsin A gene DOID:1826 epilepsy ISO RGD:1319205 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12218033 CTSA cathepsin A gene DOID:2234 focal epilepsy ISO RGD:1319205 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12218033 CTSA cathepsin A gene DOID:3211 lysosomal storage disease ISO RGD:1319205 D RGD:9068941 20200609 RGD PMID:8514852|REF_RGD_ID:1599169 12218033 CTSA cathepsin A gene DOID:630 genetic disease ISO RGD:1319205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18937050|PMID:28492532 12218033 CTSA cathepsin A gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1319205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12218033 CTSA cathepsin A gene DOID:9008386 Hydrops Fetalis ISO RGD:1319205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 12218051 RBM33 RNA binding motif protein 33 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1604982 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 12218051 RBM33 RNA binding motif protein 33 gene DOID:12849 autistic disorder ISO RGD:1604982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12218051 RBM33 RNA binding motif protein 33 gene DOID:630 genetic disease ISO RGD:1604982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218091 PALM3 paralemmin 3 gene DOID:630 genetic disease ISO RGD:2803038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218097 C20H3orf62 chromosome 20 C3orf62 homolog gene DOID:0060852 Pierson syndrome ISO RGD:1602042 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 12218097 C20H3orf62 chromosome 20 C3orf62 homolog gene DOID:630 genetic disease ISO RGD:1602042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218097 C20H3orf62 chromosome 20 C3orf62 homolog gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1602042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12218123 MYH7 myosin heavy chain 7 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:736718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:10024460|PMID:10725281|PMID:12974739|PMID:16650083|PMID:17125710|PMID:17192269|PMID:17703256|PMID:19150014|PMID:20031618|PMID:21310275|PMID:21674835|PMID:21750094|PMID:22429680|PMID:22765922|PMID:23074333|PMID:23283745|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24793961|PMID:25031304|PMID:25351510|PMID:25611685|PMID:25741868|PMID:27247418|PMID:27519903|PMID:27532257|PMID:28492532|PMID:28640247|PMID:28771489|PMID:29300372|PMID:29875424|PMID:30297972|PMID:30847666|PMID:31447099|PMID:31513939|PMID:31737537|PMID:32746448|PMID:32894683|PMID:33087929|PMID:33673806|PMID:34067482|PMID:7731997|PMID:7796500|PMID:8483915|PMID:8541871|PMID:9172070 12218123 MYH7 myosin heavy chain 7 gene DOID:0050700 cardiomyopathy ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11106718|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11499719|PMID:11723028|PMID:11748309|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12016059|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12749056|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14520662|PMID:14563299|PMID:14656445|PMID:1472461|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15699387|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:15940186|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16715312|PMID:16754800|PMID:16858239|PMID:16870472|PMID:16918501|PMID:16938236|PMID:16983074|PMID:17019812|PMID:17095604|PMID:17097032|PMID:17118657|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17336526|PMID:17351073|PMID:17372140|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17599605|PMID:17612745|PMID:17703256|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18076673|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19035361|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:19913502|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20309391|PMID:20350521|PMID:20359594|PMID:20376763|PMID:20378854|PMID:20394946|PMID:20428263|PMID:20439259|PMID:20474083|PMID:20530761|PMID:2062450|PMID:20624503|PMID:20641121|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20738943|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20952769|PMID:20965760|PMID:20975235|PMID:20981092|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21425739|PMID:21426742|PMID:21483645|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21817903|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21846512|PMID:21896538|PMID:21943931|PMID:21958740|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22177269|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22784669|PMID:22811549|PMID:22857948|PMID:22859017|PMID:22918376|PMID:22949430|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23313350|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:23870641|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113 12218123 MYH7 myosin heavy chain 7 gene DOID:0050700 cardiomyopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24215330|PMID:24268868|PMID:24298987|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24558114|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24749114|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25228707|PMID:25239116|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25447171|PMID:25448463|PMID:25467552|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25607779|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25931334|PMID:25935763|PMID:25937279|PMID:25937619|PMID:25961035|PMID:25979592|PMID:26025024|PMID:26084686|PMID:26150528|PMID:26162782|PMID:26187847|PMID:26199943|PMID:26220970|PMID:26223264|PMID:26246073|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26406308|PMID:26446785|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26654849|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26782017|PMID:26846766|PMID:26899768|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161882|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27282841|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27519903|PMID:2753225|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27600940|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27788187|PMID:27831900|PMID:27841901|PMID:27854218|PMID:27884173|PMID:27885498|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28002430|PMID:28005231|PMID:28045975|PMID:28067235|PMID:28087426|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28396031|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28449774|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28699631|PMID:28704380|PMID:28706299|PMID:28750076|PMID:28771251|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28912206|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29073106|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29178653|PMID:29192238|PMID:29212898|PMID:29253866|PMID:29255176|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29398688|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29517769|PMID:29540472|PMID:29631964|PMID:29661763|PMID:29666183|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29867217|PMID:29875424|PMID:29892087|PMID:29907873|PMID:29915097|PMID:29915098|PMID:29970176|PMID:29997562|PMID:30022097|PMID:30052928|PMID:30105547|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30359267|PMID:30371277|PMID:30384889|PMID:30385303|PMID:30403391|PMID:30462978|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30615648|PMID:30665703|PMID:30696458|PMID:30731207|PMID:30745532|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30972196|PMID:30996762|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31064352|PMID:31110529|PMID:31112422|PMID:31130284|PMID:31156706|PMID:31195250|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31514951|PMID:31517061|PMID:31534214|PMID:31568572|PMID:31582565|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31735781|PMID:31737537|PMID:31771441|PMID:31918855|PMID:31919335|PMID:31931472|PMID:31931689|PMID:31941943|PMID:31977013|PMID:31980526|PMID:31983221 12218123 MYH7 myosin heavy chain 7 gene DOID:0050700 cardiomyopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:32013205|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32381727|PMID:32458740|PMID:32481709|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32731933|PMID:32746448|PMID:32789579|PMID:32830170|PMID:32833721|PMID:32880476|PMID:32894683|PMID:32931854|PMID:32960281|PMID:32968017|PMID:32969603|PMID:33087929|PMID:33190526|PMID:33232181|PMID:33297573|PMID:33302605|PMID:33309763|PMID:33382884|PMID:33407484|PMID:33448881|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33586461|PMID:33658040|PMID:33673806|PMID:33764162|PMID:33906374|PMID:34008892|PMID:34036930|PMID:34135346|PMID:34263907|PMID:34310159|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34615813|PMID:34621001|PMID:34675999|PMID:34819141|PMID:34949102|PMID:35050212|PMID:35063694|PMID:35265679|PMID:35288587|PMID:35456187|PMID:35535697|PMID:35544052|PMID:35653365|PMID:36129056|PMID:7532257|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8250038|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8343162|PMID:8375803|PMID:8435239|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9047366|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9476679|PMID:9503187|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9874056|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:0050821 first-degree atrioventricular block ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: First degree atrioventricular block PMID:21127202|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26150528|PMID:28492532|PMID:28798025|PMID:32880476|PMID:33495597|PMID:34542152 12218123 MYH7 myosin heavy chain 7 gene DOID:0060036 intrinsic cardiomyopathy ISO RGD:736718 D RGD:9068941 20221110 RGD protein:increased expression:heart (human) PMID:27249171|REF_RGD_ID:155646134 12218123 MYH7 myosin heavy chain 7 gene DOID:0060041 autism spectrum disorder ISO RGD:736718 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:22958901|PMID:24033266|PMID:24111713|PMID:24793961|PMID:25611685|PMID:25741868|PMID:26076356|PMID:26468400|PMID:27247418|PMID:27532257|PMID:27600940|PMID:28492532|PMID:28790153|PMID:28807990 12218123 MYH7 myosin heavy chain 7 gene DOID:0060224 atrial fibrillation ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:25741868 12218123 MYH7 myosin heavy chain 7 gene DOID:0060253 scapuloperoneal myopathy ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE | ClinVar Annotator: match by term: Scapuloperoneal muscular dystrophy | ClinVar Annotator: match by term: Scapuloperoneal myopathy | ClinVar Annotator: match by term: Scapuloperoneal syndrome, myopathic type PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:15000344|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17383184|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25576864|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27082122|PMID:27153395 12218123 MYH7 myosin heavy chain 7 gene DOID:0060253 scapuloperoneal myopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE | ClinVar Annotator: match by term: Scapuloperoneal muscular dystrophy | ClinVar Annotator: match by term: Scapuloperoneal myopathy | ClinVar Annotator: match by term: Scapuloperoneal syndrome, myopathic type PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28912206|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29253866|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29398688|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29892087|PMID:29907873|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30371277|PMID:30403391|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32458740|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34008892|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34949102|PMID:35535697|PMID:35653365|PMID:36129056|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:0060439 lysinuric protein intolerance ISO RGD:736718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12218123 MYH7 myosin heavy chain 7 gene DOID:0060480 left ventricular noncompaction ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:10900182|PMID:12749056|PMID:15322983|PMID:16199547|PMID:16754800|PMID:17372140|PMID:17947214|PMID:18159245|PMID:18258667|PMID:18506004|PMID:18519860|PMID:19808347|PMID:19864899|PMID:20031602|PMID:20031619|PMID:20530761|PMID:20624503|PMID:20733148|PMID:20800588|PMID:20965760|PMID:21127202|PMID:21310275|PMID:2136805|PMID:21499742|PMID:21511876|PMID:21551322|PMID:22464770|PMID:22763267|PMID:22859017|PMID:22918376|PMID:22958901|PMID:23281406|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23426552|PMID:23707328|PMID:23861362|PMID:23956225|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24691700|PMID:25125180|PMID:25163546|PMID:25351510|PMID:25524337|PMID:25666907|PMID:25741868|PMID:26332594|PMID:26743238|PMID:27153395|PMID:27532257|PMID:27788187|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28807990|PMID:28971120|PMID:29121657|PMID:29253866|PMID:29300372|PMID:29892087|PMID:29915098|PMID:30371277|PMID:30775854|PMID:31006259|PMID:3203908|PMID:32458740|PMID:7883988|PMID:7909436|PMID:8614836|PMID:8981935|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:0070197 distal myopathy 1 ISO RGD:736718 D RGD:7240710 20180912 OMIM 12218123 MYH7 myosin heavy chain 7 gene DOID:0070197 distal myopathy 1 ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Laing early-onset distal myopathy | ClinVar Annotator: match by term: Myopathy, distal, 1 PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17383184|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24726209|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:24953931|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25447691|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25576864|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166 12218123 MYH7 myosin heavy chain 7 gene DOID:0070197 distal myopathy 1 ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Laing early-onset distal myopathy | ClinVar Annotator: match by term: Myopathy, distal, 1 PMID:27066506|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28912206|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29398688|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30403391|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:30996762|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33298082|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34008892|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34949102|PMID:35535697|PMID:35653365|PMID:36129056|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:0080000 muscular disease ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:15358028|PMID:16938236|PMID:19149795|PMID:20975235|PMID:22958901|PMID:24033266|PMID:24093860|PMID:24111713|PMID:24793961|PMID:25086479|PMID:25611685|PMID:25741868|PMID:25937619|PMID:26187847|PMID:27247418|PMID:27532257|PMID:28492532|PMID:28498465|PMID:31513939|PMID:31589614|PMID:32894683|PMID:34542152 12218123 MYH7 myosin heavy chain 7 gene DOID:0080100 congenital myopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital myopathy PMID:24033266|PMID:25741868|PMID:27854218|PMID:28492532|PMID:33500567 12218123 MYH7 myosin heavy chain 7 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10024460|PMID:10065021|PMID:10328076|PMID:10521296|PMID:10725281|PMID:10750581|PMID:10882745|PMID:11133230|PMID:11186938|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11968089|PMID:12081993|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12975413|PMID:1430197|PMID:1472461|PMID:15010274|PMID:15136674|PMID:15358028|PMID:15483641|PMID:15528230|PMID:1552912|PMID:15563892|PMID:15757018|PMID:15856146|PMID:15858117|PMID:16199542|PMID:16267253|PMID:1638703|PMID:16630449|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17125710|PMID:17438619|PMID:17560888|PMID:17612745|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:18761664|PMID:19149795|PMID:19150014|PMID:1944483|PMID:1975517|PMID:19880069|PMID:20031618|PMID:20350521|PMID:20359594|PMID:20800588|PMID:20975235|PMID:21127202|PMID:21239446|PMID:21310275|PMID:21750094|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23197161|PMID:23233322|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23396983|PMID:23403236|PMID:23549607|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24298987|PMID:24503780|PMID:24510615|PMID:24691700|PMID:24704860|PMID:24749114|PMID:24793961|PMID:25031304|PMID:25086479|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:25937619|PMID:26187847|PMID:26573135|PMID:26743238|PMID:26914223|PMID:26936621|PMID:26969327|PMID:27082122|PMID:27153395|PMID:27247418|PMID:27532257|PMID:27600940|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27974200|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28606303|PMID:28615295|PMID:28790153|PMID:29121657|PMID:29212898|PMID:29300372|PMID:30297972|PMID:30511546|PMID:30731207|PMID:30847666|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31110529|PMID:31199839|PMID:31333075|PMID:31493341|PMID:31513939|PMID:31568572|PMID:32381727|PMID:7581410|PMID:7662452|PMID:7731997|PMID:7848420|PMID:8186698|PMID:8254035|PMID:8268932|PMID:8490051|PMID:9105042|PMID:9140839|PMID:9826622|PMID:9835779 12218123 MYH7 myosin heavy chain 7 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:736718 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:10024460|PMID:10065021|PMID:10328076|PMID:10521296|PMID:10725281|PMID:10750581|PMID:10882745|PMID:11133230|PMID:11186938|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11968089|PMID:12081993|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12975413|PMID:1430197|PMID:1472461|PMID:15010274|PMID:15136674|PMID:15358028|PMID:15483641|PMID:15528230|PMID:1552912|PMID:15563892|PMID:15757018|PMID:15856146|PMID:15858117|PMID:16199542|PMID:16267253|PMID:1638703|PMID:16630449|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17125710|PMID:17438619|PMID:17560888|PMID:17612745|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:18761664|PMID:19149795|PMID:19150014|PMID:1944483|PMID:19666645|PMID:1975517|PMID:19880069|PMID:20031618|PMID:20301436|PMID:20350521|PMID:20359594|PMID:20800588|PMID:20975235|PMID:21127202|PMID:21239446|PMID:21288719|PMID:21310275|PMID:21750094|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23197161|PMID:23233322|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23396983|PMID:23403236|PMID:23549607|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24183960|PMID:24298987|PMID:24503780|PMID:24510615|PMID:24691700|PMID:24704860|PMID:24749114|PMID:24793961|PMID:25031304|PMID:25086479|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:25937619|PMID:26187847|PMID:26573135|PMID:26743238|PMID:26914223|PMID:26936621|PMID:26969327|PMID:27082122|PMID:27153395|PMID:27247418|PMID:27532257|PMID:27600940|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27974200|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28606303|PMID:28615295|PMID:28790153|PMID:29121657|PMID:29212898|PMID:29300372|PMID:29907873|PMID:30217213|PMID:30291343|PMID:30297972|PMID:30511546|PMID:30731207|PMID:30755392|PMID:30847666|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31110529|PMID:31199839|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31931472|PMID:32233023|PMID:32284968|PMID:32381727|PMID:33297573|PMID:33673806|PMID:34540771|PMID:7581410|PMID:7662452|PMID:7731997|PMID:7848420|PMID:8186698|PMID:8254035|PMID:8268932|PMID:8490051|PMID:9105042|PMID:9140839|PMID:9826622|PMID:9835779 12218123 MYH7 myosin heavy chain 7 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:736718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:1472461|PMID:15000344|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18565996|PMID:18660445|PMID:18761664|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20301436|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21288719|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24749114|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163546|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27483260|PMID:27532257|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465 12218123 MYH7 myosin heavy chain 7 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:736718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:28518168|PMID:28566242|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29447731|PMID:29517769|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:30022097|PMID:30122538|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32381727|PMID:32492895|PMID:32531501|PMID:32612965|PMID:32880476|PMID:32894683|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:34426522|PMID:34540771|PMID:34542152|PMID:35535697|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8375803|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:1472461|PMID:15000344|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18565996|PMID:18660445|PMID:18761664|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20301436|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21288719|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24749114|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:27532257|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356 12218123 MYH7 myosin heavy chain 7 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28927399|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29447731|PMID:29517769|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:30022097|PMID:30122538|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32381727|PMID:32492895|PMID:32531501|PMID:32612965|PMID:32659924|PMID:32880476|PMID:32894683|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34426522|PMID:34540771|PMID:34542152|PMID:35535697|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8375803|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:1472461|PMID:15000344|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15857933|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18565996|PMID:18660445|PMID:18761664|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20301436|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21288719|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24749114|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:27532257|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666 12218123 MYH7 myosin heavy chain 7 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28912206|PMID:28927399|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29447731|PMID:29517769|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:30022097|PMID:30122538|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32381727|PMID:32492895|PMID:32531501|PMID:32612965|PMID:32659924|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34949102|PMID:35535697|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8375803|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28912206|PMID:28927399|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29447731|PMID:29517769|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:30022097|PMID:30122538|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32381727|PMID:32492895|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34949102|PMID:35535697|PMID:35653365|PMID:36129056|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8375803|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10024460|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14656445|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15136674|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630450|PMID:16650083|PMID:16715312|PMID:16858239|PMID:16918501|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17351073|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17560888|PMID:17599605|PMID:17703256|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18175163|PMID:18258667|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18533079|PMID:18565996|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808356|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20428263|PMID:20624503|PMID:20664766|PMID:20800588|PMID:20819418|PMID:20865685|PMID:20975235|PMID:21127202|PMID:21211974|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:21425739|PMID:21511876|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21817903|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23508784|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24183960|PMID:24268868|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24704860|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25239116|PMID:25326637|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26246073|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26573135|PMID:26627873|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161364|PMID:27247418|PMID:27318203|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28087426|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28518168|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28971120 12218123 MYH7 myosin heavy chain 7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29661763|PMID:29709087|PMID:29773157|PMID:29875424|PMID:29907873|PMID:30022097|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30297972|PMID:30403391|PMID:30531895|PMID:30588760|PMID:30623132|PMID:30731207|PMID:30775854|PMID:30847666|PMID:30871747|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31199839|PMID:31308319|PMID:31333075|PMID:31493341|PMID:31568572|PMID:31638223|PMID:31722741|PMID:31790337|PMID:31918855|PMID:32481709|PMID:32880476|PMID:32894683|PMID:33673806|PMID:34542152|PMID:7581410|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7848441|PMID:7874131|PMID:7883988|PMID:7994801|PMID:8250038|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8435239|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9271024|PMID:9541509|PMID:9544842|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779 12218123 MYH7 myosin heavy chain 7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10024460|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14656445|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15136674|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630450|PMID:16650083|PMID:16715312|PMID:16858239|PMID:16918501|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17351073|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17560888|PMID:17599605|PMID:17703256|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18533079|PMID:18565996|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808356|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20428263|PMID:20624503|PMID:20664766|PMID:20800588|PMID:20819418|PMID:20865685|PMID:20975235|PMID:21127202|PMID:21211974|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:21425739|PMID:21511876|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21817903|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23508784|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24183960|PMID:24268868|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24704860|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25239116|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26246073|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26573135|PMID:26627873|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161364|PMID:27247418|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28087426|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28518168|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025 12218123 MYH7 myosin heavy chain 7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29661763|PMID:29709087|PMID:29773157|PMID:29875424|PMID:29907873|PMID:30022097|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30531895|PMID:30588760|PMID:30623132|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30871747|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31199839|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:32013205|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32481709|PMID:32746448|PMID:32880476|PMID:32894683|PMID:33087929|PMID:33297573|PMID:33673806|PMID:34067482|PMID:34542152|PMID:7581410|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7848441|PMID:7874131|PMID:7883988|PMID:7994801|PMID:8250038|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8435239|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9271024|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779 12218123 MYH7 myosin heavy chain 7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10024460|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14656445|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15136674|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630450|PMID:16650083|PMID:16715312|PMID:16858239|PMID:16918501|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17351073|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17560888|PMID:17599605|PMID:17703256|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18533079|PMID:18565996|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808356|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20428263|PMID:20624503|PMID:20664766|PMID:20800588|PMID:20819418|PMID:20865685|PMID:20975235|PMID:21127202|PMID:21211974|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:21425739|PMID:21511876|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21817903|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23508784|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24183960|PMID:24268868|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24704860|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25239116|PMID:25326637|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26246073|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26573135|PMID:26627873|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161364|PMID:27247418|PMID:27318203|PMID:27373729|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28087426|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28518168|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025 12218123 MYH7 myosin heavy chain 7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29300372|PMID:29343710|PMID:29420653|PMID:29661763|PMID:29709087|PMID:29773157|PMID:29875424|PMID:29907873|PMID:30022097|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30531895|PMID:30588760|PMID:30623132|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30871747|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31199839|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:32013205|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32481709|PMID:32746448|PMID:32833721|PMID:32880476|PMID:32894683|PMID:33087929|PMID:33297573|PMID:33673806|PMID:34067482|PMID:34542152|PMID:35535697|PMID:7581410|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7874131|PMID:7883988|PMID:7994801|PMID:8250038|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8435239|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9271024|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779 12218123 MYH7 myosin heavy chain 7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10024460|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14656445|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15136674|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630450|PMID:16650083|PMID:16715312|PMID:16858239|PMID:16918501|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17351073|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17560888|PMID:17599605|PMID:17703256|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18533079|PMID:18565996|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808356|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20428263|PMID:20624503|PMID:20664766|PMID:20800588|PMID:20819418|PMID:20865685|PMID:20975235|PMID:21127202|PMID:21211974|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:21425739|PMID:21511876|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21817903|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23508784|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24183960|PMID:24268868|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24704860|PMID:24714796|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26246073|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161364|PMID:27247418|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28087426|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28255936|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28518168 12218123 MYH7 myosin heavy chain 7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29300372|PMID:29343710|PMID:29420653|PMID:29661763|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:30022097|PMID:30165862|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30531895|PMID:30588760|PMID:30623132|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30871747|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31199839|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:32013205|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32481709|PMID:32492895|PMID:32612965|PMID:32746448|PMID:32833721|PMID:32880476|PMID:32894683|PMID:32960281|PMID:32968017|PMID:33087929|PMID:33190526|PMID:33297573|PMID:33302605|PMID:33382884|PMID:33487615|PMID:33673806|PMID:34067482|PMID:34310159|PMID:34542152|PMID:34598319|PMID:34615813|PMID:35535697|PMID:35544052|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7815466|PMID:7874131|PMID:7883988|PMID:7994801|PMID:8180512|PMID:8194835|PMID:8196066|PMID:8250038|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8435239|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779 12218123 MYH7 myosin heavy chain 7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10024460|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14656445|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15136674|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630450|PMID:16650083|PMID:16715312|PMID:16858239|PMID:16918501|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17351073|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17560888|PMID:17576681|PMID:17599605|PMID:17703256|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18533079|PMID:18565996|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808356|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20428263|PMID:20624503|PMID:20664766|PMID:20800588|PMID:20819418|PMID:20865685|PMID:20975235|PMID:21127202|PMID:21211974|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:21425739|PMID:21511876|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21817903|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23508784|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24183960|PMID:24268868|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26246073|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161364|PMID:27247418|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28002430|PMID:28087426|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28255936|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356 12218123 MYH7 myosin heavy chain 7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532|PMID:28518168|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29661763|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:30022097|PMID:30165862|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30531895|PMID:30588760|PMID:30623132|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30871747|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31199839|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:32013205|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32481709|PMID:32492895|PMID:32612965|PMID:32746448|PMID:32833721|PMID:32880476|PMID:32894683|PMID:32960281|PMID:32968017|PMID:33087929|PMID:33190526|PMID:33297573|PMID:33302605|PMID:33382884|PMID:33487615|PMID:33673806|PMID:34067482|PMID:34310159|PMID:34542152|PMID:34598319|PMID:34615813|PMID:35535697|PMID:35544052|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7815466|PMID:7874131|PMID:7883988|PMID:7994801|PMID:8180512|PMID:8194835|PMID:8196066|PMID:8250038|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8435239|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779 12218123 MYH7 myosin heavy chain 7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10024460|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14656445|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15136674|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630450|PMID:16650083|PMID:16715312|PMID:16858239|PMID:16918501|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17351073|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17560888|PMID:17576681|PMID:17599605|PMID:17703256|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18533079|PMID:18565996|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808356|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20428263|PMID:20624503|PMID:20664766|PMID:20800588|PMID:20819418|PMID:20865685|PMID:20975235|PMID:21127202|PMID:21211974|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:21425739|PMID:21511876|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21817903|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23508784|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24183960|PMID:24268868|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25214167|PMID:25239116|PMID:25326637|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26246073|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161364|PMID:27247418|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28002430|PMID:28087426|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28255936|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28420666 12218123 MYH7 myosin heavy chain 7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28481356|PMID:28492532|PMID:28518168|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29661763|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:30022097|PMID:30165862|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30531895|PMID:30588760|PMID:30623132|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30871747|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31199839|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:32013205|PMID:32165824|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32481709|PMID:32492895|PMID:32612965|PMID:32746448|PMID:32833721|PMID:32880476|PMID:32894683|PMID:32960281|PMID:32968017|PMID:33087929|PMID:33190526|PMID:33297573|PMID:33302605|PMID:33382884|PMID:33487615|PMID:33673806|PMID:34067482|PMID:34310159|PMID:34542152|PMID:34598319|PMID:34615813|PMID:35535697|PMID:35544052|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7815466|PMID:7874131|PMID:7883988|PMID:7994801|PMID:8180512|PMID:8194835|PMID:8196066|PMID:8250038|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8435239|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779 12218123 MYH7 myosin heavy chain 7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532|PMID:28518168|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28840316|PMID:28912206|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29661763|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:30022097|PMID:30052928|PMID:30165862|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30531895|PMID:30588760|PMID:30623132|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30871747|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31199839|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:32013205|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32481709|PMID:32492895|PMID:32612965|PMID:32627857|PMID:32746448|PMID:32833721|PMID:32880476|PMID:32894683|PMID:32931854|PMID:32960281|PMID:32968017|PMID:33087929|PMID:33190526|PMID:33297573|PMID:33302605|PMID:33309763|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33673806|PMID:34067482|PMID:34310159|PMID:34426522|PMID:34503678|PMID:34542152|PMID:34598319|PMID:34615813|PMID:34949102|PMID:35535697|PMID:35544052|PMID:35653365|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7815466|PMID:7874131|PMID:7883988|PMID:7994801|PMID:8180512|PMID:8194835|PMID:8196066|PMID:8250038|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8435239|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779 12218123 MYH7 myosin heavy chain 7 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:736718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:25741868 12218123 MYH7 myosin heavy chain 7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:7240710 20180130 OMIM 12218123 MYH7 myosin heavy chain 7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11733062|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12749056|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:1361491|PMID:13732753|PMID:1423936|PMID:1430197|PMID:1472461|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16630450|PMID:16650083|PMID:16684601|PMID:16715312|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17019812|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17336526|PMID:17351073|PMID:17372140|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17599605|PMID:17612745|PMID:17703256|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18076673|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18761664|PMID:18953637|PMID:19134269|PMID:19138847|PMID:19149795|PMID:19150014|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808347|PMID:19808356|PMID:19864899|PMID:19880069|PMID:19913502|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20215591|PMID:20298698|PMID:20309391|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20394946|PMID:20428263|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20573160|PMID:20624503|PMID:20641121|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20738943|PMID:20800588|PMID:20811150|PMID:20817590|PMID:20819418|PMID:20865685|PMID:20965760|PMID:20975235|PMID:20981092|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21425739|PMID:21426742|PMID:21483645|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21943931|PMID:21958740|PMID:21959974|PMID:22112859|PMID:22213221|PMID:22260945|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22784669|PMID:22811549|PMID:22857948|PMID:22859017|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086 12218123 MYH7 myosin heavy chain 7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25228707|PMID:25239116|PMID:25326635|PMID:25326637|PMID:25327599|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25448463|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26199943|PMID:26220970|PMID:26332594|PMID:26446785|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26688388|PMID:26743238|PMID:26782017|PMID:26846766|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27066506|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161882|PMID:27247418|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27600940|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27788187|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28005231|PMID:28067235|PMID:28087426|PMID:28125727|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28588093|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28878402|PMID:28971120|PMID:28973424|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29178653|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29447731|PMID:29661763|PMID:29709087|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915097|PMID:29970176|PMID:30022097|PMID:30165862|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30511546|PMID:30531895|PMID:30731207|PMID:30745532|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31517061|PMID:31568572|PMID:31589614|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:32013205|PMID:3203908|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32380161|PMID:32381727|PMID:32481709|PMID:32528171|PMID:32746448|PMID:32894683|PMID:33087929|PMID:33297573|PMID:33673806|PMID:34008892|PMID:34067482|PMID:34135346|PMID:34540771|PMID:4104682|PMID:7581410|PMID:7662452|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7848420|PMID:7848441|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8186698|PMID:8250038|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8343162|PMID:8435239|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9271024|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9874056|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25228707|PMID:25239116|PMID:25326635|PMID:25326637|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26076356|PMID:26187847|PMID:26199943|PMID:26220970|PMID:26246073|PMID:26332594|PMID:26446785|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26688388|PMID:26743238|PMID:26782017|PMID:26846766|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27066506|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161882|PMID:27247418|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27600940|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27788187|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28005231|PMID:28067235|PMID:28087426|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28588093|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28878402|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29178653|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29540472|PMID:29661763|PMID:29709087|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915097|PMID:29970176|PMID:30022097|PMID:30165862|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30731207|PMID:30745532|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31199839|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31517061|PMID:31568572|PMID:31589614|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:31931689|PMID:32013205|PMID:3203908|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32381727|PMID:32481709|PMID:32528171|PMID:32746448|PMID:32880476|PMID:32894683|PMID:33087929|PMID:33297573|PMID:33673806|PMID:34008892|PMID:34067482|PMID:34135346|PMID:34540771|PMID:35535697|PMID:4104682|PMID:7581410|PMID:7662452|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7848420|PMID:7848441|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8186698|PMID:8250038|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8343162|PMID:8435239|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9271024|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9874056|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25228707|PMID:25239116|PMID:25326635|PMID:25326637|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26199943|PMID:26220970|PMID:26246073|PMID:26332594|PMID:26446785|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26688388|PMID:26743238|PMID:26782017|PMID:26846766|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27066506|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161882|PMID:27247418|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27600940|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27788187|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28005231|PMID:28067235|PMID:28087426|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28588093|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28878402|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29178653|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29540472|PMID:29661763|PMID:29709087|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915097|PMID:29970176|PMID:30022097|PMID:30165862|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30731207|PMID:30745532|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31199839|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31517061|PMID:31568572|PMID:31589614|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:31931689|PMID:32013205|PMID:3203908|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32381727|PMID:32481709|PMID:32528171|PMID:32746448|PMID:32880476|PMID:32894683|PMID:33087929|PMID:33297573|PMID:33673806|PMID:34008892|PMID:34067482|PMID:34135346|PMID:34540771|PMID:35535697|PMID:4104682|PMID:7581410|PMID:7662452|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7848420|PMID:7848441|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8186698|PMID:8250038|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8343162|PMID:8435239|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9271024|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9874056|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11733062|PMID:11748309|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12016059|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12749056|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:1361491|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14656445|PMID:1472461|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15386449|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16630450|PMID:16650083|PMID:16684601|PMID:16715312|PMID:16754800|PMID:16858239|PMID:16870472|PMID:16918501|PMID:16938236|PMID:17019812|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17336526|PMID:17351073|PMID:17372140|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17599605|PMID:17612745|PMID:17703256|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18076673|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18761664|PMID:18953637|PMID:19138847|PMID:19149795|PMID:19150014|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808347|PMID:19808356|PMID:19864899|PMID:19880069|PMID:19913502|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20309391|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20394946|PMID:20428263|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20641121|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20738943|PMID:20800588|PMID:20811150|PMID:20817590|PMID:20819418|PMID:20865685|PMID:20965760|PMID:20975235|PMID:20981092|PMID:21127202|PMID:21211974|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21425739|PMID:21426742|PMID:21483645|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21943931|PMID:21958740|PMID:21959974|PMID:22112859|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22784669|PMID:22811549|PMID:22857948|PMID:22859017|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24691700|PMID:24704860 12218123 MYH7 myosin heavy chain 7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24721642|PMID:24749114|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25228707|PMID:25239116|PMID:25326635|PMID:25326637|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26199943|PMID:26220970|PMID:26246073|PMID:26332594|PMID:26446785|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26782017|PMID:26846766|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161882|PMID:27247418|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27600940|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27788187|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28005231|PMID:28067235|PMID:28087426|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28588093|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29073106|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29178653|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29447731|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915097|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30105547|PMID:30165862|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30615648|PMID:30731207|PMID:30745532|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31195250|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31517061|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:31931689|PMID:32013205|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32381727|PMID:32481709|PMID:32492895|PMID:32528171|PMID:32612965|PMID:32659924|PMID:32746448|PMID:32880476|PMID:32894683|PMID:32960281|PMID:32968017|PMID:33019804|PMID:33087929|PMID:33297573|PMID:33302605|PMID:33382884|PMID:33407484|PMID:33487615|PMID:33658040|PMID:33673806|PMID:33764162|PMID:34008892|PMID:34067482|PMID:34135346|PMID:34310159|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34615813|PMID:34621001|PMID:35535697|PMID:4104682|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7815466|PMID:7848420|PMID:7848441|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8250038|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8343162|PMID:8375803|PMID:8435239|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9047366|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541100 12218123 MYH7 myosin heavy chain 7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9874056|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11733062|PMID:11748309|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12016059|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12749056|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:1361491|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14656445|PMID:14659406|PMID:1472461|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15386449|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16630450|PMID:16650083|PMID:16684601|PMID:16715312|PMID:16754800|PMID:16858239|PMID:16870472|PMID:16918501|PMID:16938236|PMID:17019812|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17336526|PMID:17351073|PMID:17372140|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17599605|PMID:17612745|PMID:17703256|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18076673|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19138847|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:19913502|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20309391|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20394946|PMID:20428263|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20641121|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20738943|PMID:20800588|PMID:20811150|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20865685|PMID:20965760|PMID:20975235|PMID:20981092|PMID:21127202|PMID:21211974|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21425739|PMID:21426742|PMID:21483645|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21817903|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21943931|PMID:21958740|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22784669|PMID:22811549|PMID:22857948|PMID:22859017|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960 12218123 MYH7 myosin heavy chain 7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24215330|PMID:24268868|PMID:24298987|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24749114|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25228707|PMID:25239116|PMID:25326635|PMID:25326637|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26199943|PMID:26220970|PMID:26246073|PMID:26332594|PMID:26383716|PMID:26446785|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26782017|PMID:26846766|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161882|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27282841|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27600940|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27788187|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28005231|PMID:28067235|PMID:28087426|PMID:28125727|PMID:28138913|PMID:28152038|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28971120|PMID:28973424|PMID:28986452|PMID:28986455|PMID:29029073|PMID:29030401|PMID:29073106|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29178653|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915097|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30025578|PMID:30105547|PMID:30122538|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30403391|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30615648|PMID:30696458|PMID:30731207|PMID:30745532|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31195250|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31517061|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:31931689|PMID:32013205|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32381727|PMID:32481709|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32659924|PMID:32746448|PMID:32815737|PMID:32880476|PMID:32894683|PMID:32960281|PMID:32968017|PMID:33019804|PMID:33087929|PMID:33190526|PMID:33297573|PMID:33302605|PMID:33382884|PMID:33407484|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33764162|PMID:34008892|PMID:34067482|PMID:34135346|PMID:34310159|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34615813|PMID:34621001|PMID:35535697|PMID:35544052|PMID:4104682|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380 12218123 MYH7 myosin heavy chain 7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:7796500|PMID:7815466|PMID:7848420|PMID:7848441|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8250038|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8343162|PMID:8375803|PMID:8435239|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9047366|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9874056|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11733062|PMID:11748309|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12016059|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12749056|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:1361491|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14656445|PMID:14659406|PMID:1472461|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15386449|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16630450|PMID:16650083|PMID:16684601|PMID:16715312|PMID:16754800|PMID:16858239|PMID:16870472|PMID:16918501|PMID:16938236|PMID:17019812|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17336526|PMID:17351073|PMID:17372140|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17599605|PMID:17612745|PMID:17703256|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18076673|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19138847|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:19913502|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20309391|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20394946|PMID:20428263|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20641121|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20738943|PMID:20800588|PMID:20811150|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20865685|PMID:20965760|PMID:20975235|PMID:20981092|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21425739|PMID:21426742|PMID:21483645|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21817903|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21943931|PMID:21958740|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22784669|PMID:22811549|PMID:22857948|PMID:22859017|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960 12218123 MYH7 myosin heavy chain 7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24215330|PMID:24268868|PMID:24298987|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24749114|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25228707|PMID:25239116|PMID:25326635|PMID:25326637|PMID:25327599|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26178432|PMID:26187847|PMID:26199943|PMID:26220970|PMID:26246073|PMID:26332594|PMID:26383716|PMID:26446785|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26782017|PMID:26846766|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161882|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27282841|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27600940|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27788187|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28005231|PMID:28067235|PMID:28087426|PMID:28125727|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28699631|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28912206|PMID:28971120|PMID:28973424|PMID:28986452|PMID:28986455|PMID:29029073|PMID:29030401|PMID:29073106|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29178653|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29398688|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915097|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30025578|PMID:30052928|PMID:30105547|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30403391|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30615648|PMID:30696458|PMID:30731207|PMID:30745532|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31195250|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31517061|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:31931689|PMID:31983221|PMID:32013205|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32381727|PMID:32481709|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32710294|PMID:32746448|PMID:32815737|PMID:32833721|PMID:32880476|PMID:32894683|PMID:32931854|PMID:32960281|PMID:32968017|PMID:33019804|PMID:33087929|PMID:33190526|PMID:33232181|PMID:33297573|PMID:33302605|PMID:33309763|PMID:33382884|PMID:33407484|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33764162|PMID:33906374|PMID:34008892|PMID:34036930 12218123 MYH7 myosin heavy chain 7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:34067482|PMID:34135346|PMID:34310159|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34615813|PMID:34621001|PMID:34691145|PMID:34949102|PMID:35063694|PMID:35456187|PMID:35535697|PMID:35544052|PMID:35653365|PMID:36129056|PMID:4104682|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7815466|PMID:7848420|PMID:7848441|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8250038|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8343162|PMID:8375803|PMID:8435239|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9047366|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9874056|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:23233322|PMID:24111713|PMID:25741868|PMID:28492532|PMID:34460321 12218123 MYH7 myosin heavy chain 7 gene DOID:0110320 hypertrophic cardiomyopathy 14 ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 PMID:28492532 12218123 MYH7 myosin heavy chain 7 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:24033266|PMID:25741868|PMID:28492532|PMID:30105547 12218123 MYH7 myosin heavy chain 7 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:10521296|PMID:11186938|PMID:11447480|PMID:12951062|PMID:15358028|PMID:15769782|PMID:16858239|PMID:17125710|PMID:17192269|PMID:18029407|PMID:19880069|PMID:20031618|PMID:21302287|PMID:21310275|PMID:21482996|PMID:21750094|PMID:21943931|PMID:22464770|PMID:22857948|PMID:22975586|PMID:23233322|PMID:23283745|PMID:23299917|PMID:24033266|PMID:24038877|PMID:24093860|PMID:24111713|PMID:24503780|PMID:24793961|PMID:25031304|PMID:25351510|PMID:25448463|PMID:25637381|PMID:25741868|PMID:26025024|PMID:26743238|PMID:26969327|PMID:27247418|PMID:27532257|PMID:27600940|PMID:27737317|PMID:27831900|PMID:28138913|PMID:28420666|PMID:28492532|PMID:28606303|PMID:28615295|PMID:28790153|PMID:29093449|PMID:29300372|PMID:29773157|PMID:30291343|PMID:30755392|PMID:31006259|PMID:31110529|PMID:31447099|PMID:31589614|PMID:32233023|PMID:32880476|PMID:33297573|PMID:33673806|PMID:7581410 12218123 MYH7 myosin heavy chain 7 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:736718 D RGD:7240710 20180130 OMIM 12218123 MYH7 myosin heavy chain 7 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Biventricular noncompaction cardiomyopathy | ClinVar Annotator: match by term: Dilated cardiomyopathy 1S | ClinVar Annotator: match by term: Left ventricular noncompaction 5 PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11106718|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12749056|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:15000344|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16684601|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:16983074|PMID:17019812|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17336526|PMID:17351073|PMID:17372140|PMID:17383184|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18258667|PMID:18374998|PMID:18380764|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19138847|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20738943|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20965760|PMID:20975235|PMID:20981092|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21425739|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21943931|PMID:21958740|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22177269|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22859017|PMID:22918376|PMID:22949430|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23313350|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25228707|PMID:25239116|PMID:25326635|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25447171|PMID:25448463|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25607779|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937279 12218123 MYH7 myosin heavy chain 7 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Biventricular noncompaction cardiomyopathy | ClinVar Annotator: match by term: Dilated cardiomyopathy 1S | ClinVar Annotator: match by term: Left ventricular noncompaction 5 PMID:25937619|PMID:25961035|PMID:26025024|PMID:26187847|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26446785|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26846766|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:2753225|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27788187|PMID:27831900|PMID:27841901|PMID:27884173|PMID:2790153|PMID:27930701|PMID:27965028|PMID:27974200|PMID:28045975|PMID:28125727|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28912206|PMID:28971120|PMID:28973424|PMID:28986452|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29178653|PMID:29192238|PMID:29212898|PMID:29253866|PMID:29255176|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29398688|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29666183|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29867217|PMID:29875424|PMID:29892087|PMID:29907873|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30371277|PMID:30403391|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30578397|PMID:30588760|PMID:30665703|PMID:30674652|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:30996762|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31771441|PMID:31918855|PMID:31931472|PMID:31931689|PMID:31983221|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32458740|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32746448|PMID:32789579|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33764162|PMID:33906374|PMID:34008892|PMID:34011823|PMID:34036930|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34949102|PMID:35050212|PMID:35265679|PMID:35535697|PMID:35653365|PMID:36129056|PMID:4104682|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:0111267 hyaline body myopathy ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyaline body myopathy | ClinVar Annotator: match by term: Myosin storage myopathy PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14520662|PMID:14563299|PMID:14659406|PMID:14663035|PMID:15000344|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15699387|PMID:15699411|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15857933|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16684601|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17097032|PMID:17118657|PMID:17125710|PMID:17180650|PMID:17336526|PMID:17351073|PMID:17372140|PMID:17383184|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19138847|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20301436|PMID:20350521|PMID:20359594|PMID:20376763|PMID:20378854|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21288719|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25576864|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175 12218123 MYH7 myosin heavy chain 7 gene DOID:0111267 hyaline body myopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hyaline body myopathy | ClinVar Annotator: match by term: Myosin storage myopathy PMID:26688388|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28125727|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28912206|PMID:28927399|PMID:28971120|PMID:28973424|PMID:28986452|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29253866|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29398688|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29892087|PMID:29907873|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30371277|PMID:30403391|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32458740|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34008892|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34949102|PMID:35535697|PMID:35653365|PMID:36129056|PMID:4104682|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:0111268 autosomal recessive hyaline body myopathy ISO RGD:736718 D RGD:7240710 20180130 OMIM 12218123 MYH7 myosin heavy chain 7 gene DOID:0111268 autosomal recessive hyaline body myopathy ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Myopathy, myosin storage, autosomal recessive PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:15000344|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17383184|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18565996|PMID:18660445|PMID:18761664|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20439259|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:27532257|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:2790153|PMID:27974200|PMID:28125727|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639 12218123 MYH7 myosin heavy chain 7 gene DOID:0111268 autosomal recessive hyaline body myopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Myopathy, myosin storage, autosomal recessive PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28912206|PMID:28971120|PMID:28973424|PMID:28986452|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29398688|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30122538|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32492895|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32710294|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34691145|PMID:34949102|PMID:35535697|PMID:35653365|PMID:36129056|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:0111269 autosomal dominant hyaline body myopathy ISO RGD:736718 D RGD:7240710 20180130 OMIM 12218123 MYH7 myosin heavy chain 7 gene DOID:0111269 autosomal dominant hyaline body myopathy ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT PMID:10024460|PMID:10065021|PMID:10328076|PMID:10521296|PMID:10725281|PMID:10750581|PMID:10882745|PMID:10900182|PMID:11133230|PMID:11186938|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11968089|PMID:12081993|PMID:12379228|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:1430197|PMID:14520662|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15699387|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16253604|PMID:16267253|PMID:1638703|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:17125710|PMID:17336526|PMID:17372140|PMID:17438619|PMID:17476457|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18519860|PMID:18533079|PMID:18555187|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19645038|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20086309|PMID:20350521|PMID:20359594|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20664766|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20975235|PMID:21127202|PMID:21239446|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24298987|PMID:24503780|PMID:24510615|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24721642|PMID:24758099|PMID:24793961|PMID:25031304|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25576864|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25935763|PMID:25937619|PMID:26220970|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26688388|PMID:26743238|PMID:26914223|PMID:26936621|PMID:26969327|PMID:27066506|PMID:27082122|PMID:27153395|PMID:27247418|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28704380|PMID:28750076|PMID:28790153|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28878402|PMID:28971120|PMID:29121657|PMID:29212898|PMID:29253866|PMID:29300372|PMID:29540472|PMID:29892087|PMID:29907873|PMID:29915098|PMID:30165862|PMID:30217213|PMID:30291343|PMID:30297972|PMID:30371277|PMID:30403391|PMID:30511546|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31110529|PMID:31199839|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32458740|PMID:32528171|PMID:32659924|PMID:32880476|PMID:33297573|PMID:33673806|PMID:34008892|PMID:34540771|PMID:34542152|PMID:34598319|PMID:7581410|PMID:7662452|PMID:7731997|PMID:7848420|PMID:7883988|PMID:7909436|PMID:8186698|PMID:8254035|PMID:8268932|PMID:8533830|PMID:8614836|PMID:8981935|PMID:9105042|PMID:9140839|PMID:9536098 12218123 MYH7 myosin heavy chain 7 gene DOID:0111269 autosomal dominant hyaline body myopathy ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT PMID:9826622|PMID:9835779|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:0111269 autosomal dominant hyaline body myopathy ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Scapuloperoneal myopathy, MYH7-related PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:15000344|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17383184|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25576864|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27082122|PMID:27153395 12218123 MYH7 myosin heavy chain 7 gene DOID:0111269 autosomal dominant hyaline body myopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Scapuloperoneal myopathy, MYH7-related PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28912206|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29253866|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29398688|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29892087|PMID:29907873|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30371277|PMID:30403391|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32458740|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34008892|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34949102|PMID:35535697|PMID:35653365|PMID:36129056|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:0111962 combined immunodeficiency ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:10521296|PMID:11186938|PMID:11447480|PMID:15358028|PMID:16858239|PMID:17125710|PMID:18029407|PMID:19880069|PMID:20031618|PMID:21310275|PMID:22857948|PMID:22975586|PMID:23233322|PMID:23283745|PMID:23299917|PMID:24033266|PMID:24038877|PMID:24093860|PMID:24111713|PMID:24793961|PMID:25031304|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26743238|PMID:26969327|PMID:27247418|PMID:27532257|PMID:27737317|PMID:27831900|PMID:28138913|PMID:28420666|PMID:28492532|PMID:28606303|PMID:28615295|PMID:28790153|PMID:30291343|PMID:30755392|PMID:31006259|PMID:31110529|PMID:31447099|PMID:31589614|PMID:32233023|PMID:33297573|PMID:33673806|PMID:7581410 12218123 MYH7 myosin heavy chain 7 gene DOID:10763 hypertension ISO RGD:62030 D RGD:9068941 20200609 RGD protein:decreased expression:heart left ventricle, arteriole PMID:9686760|REF_RGD_ID:9835388 12218123 MYH7 myosin heavy chain 7 gene DOID:10763 hypertension ISO RGD:736718 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32147540 12218123 MYH7 myosin heavy chain 7 gene DOID:114 heart disease ISO RGD:736718 D RGD:9068941 20221027 RGD mRNA, protein:increased expression:heart (human) PMID:26597775|REF_RGD_ID:11554891 12218123 MYH7 myosin heavy chain 7 gene DOID:11720 distal myopathy ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10024460|PMID:10065021|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10725281|PMID:10750581|PMID:10882745|PMID:10900182|PMID:11133230|PMID:11186938|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11968089|PMID:12081993|PMID:12379228|PMID:12566107|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:1430197|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16253604|PMID:16267253|PMID:1638703|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:17125710|PMID:17372140|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:18555187|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19645038|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20086309|PMID:20350521|PMID:20359594|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20664766|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21239446|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21811976|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24298987|PMID:24503780|PMID:24510615|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24721642|PMID:24726209|PMID:24758099|PMID:24793961|PMID:24953931|PMID:25031304|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25342278|PMID:25351510|PMID:25447691|PMID:25524337|PMID:25576864|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25935763|PMID:25937619|PMID:26220970|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26688388|PMID:26743238|PMID:26914223|PMID:26936621|PMID:26969327|PMID:27066506|PMID:27082122|PMID:27153395|PMID:27247418|PMID:27483260|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28704380|PMID:28750076|PMID:28790153|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28878402|PMID:28971120|PMID:29121657|PMID:29212898|PMID:29300372|PMID:29540472|PMID:29907873|PMID:29915098|PMID:30165862|PMID:30166250|PMID:30217213|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30511546|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31110529|PMID:31199839|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32528171|PMID:32659924|PMID:32880476|PMID:32894683|PMID:33297573|PMID:33298082|PMID:33673806|PMID:34008892|PMID:34540771|PMID:34542152|PMID:34598319|PMID:7581410|PMID:7662452|PMID:7731997 12218123 MYH7 myosin heavy chain 7 gene DOID:11720 distal myopathy ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:7786104|PMID:7848420|PMID:7883988|PMID:7909436|PMID:8186698|PMID:8254035|PMID:8268932|PMID:8533830|PMID:8614836|PMID:8981935|PMID:9105042|PMID:9140839|PMID:9536098|PMID:9826622|PMID:9835779|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:11720 distal myopathy ISO RGD:736718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal myopathy | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24726209|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:24953931|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25447691|PMID:25467552|PMID:25524337|PMID:25576864|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27483260|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468 12218123 MYH7 myosin heavy chain 7 gene DOID:11720 distal myopathy ISO RGD:736718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal myopathy | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:30022097|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30403391|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32659924|PMID:32880476|PMID:32894683|PMID:33297573|PMID:33298082|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:34008892|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34598319|PMID:35535697|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:11720 distal myopathy ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24726209|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:24953931|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25447691|PMID:25467552|PMID:25524337|PMID:25576864|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980 12218123 MYH7 myosin heavy chain 7 gene DOID:11720 distal myopathy ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:27483260|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:30022097|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30403391|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:30996762|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32659924|PMID:32880476|PMID:32894683|PMID:33232181|PMID:33297573|PMID:33298082|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34008892|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34598319|PMID:35535697|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:11720 distal myopathy ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17383184|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24726209|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:24953931|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25447691|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25576864|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166 12218123 MYH7 myosin heavy chain 7 gene DOID:11720 distal myopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:27066506|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28912206|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29398688|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30403391|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:30996762|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33298082|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34008892|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34949102|PMID:35535697|PMID:35653365|PMID:36129056|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10679957|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11106718|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11499719|PMID:11723028|PMID:11733062|PMID:11748309|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12016059|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12473556|PMID:12566107|PMID:12590187|PMID:12601548|PMID:12707239|PMID:12749056|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:1361491|PMID:13732753|PMID:1417858|PMID:1423936|PMID:1430197|PMID:14520662|PMID:14563299|PMID:14656445|PMID:14659406|PMID:1472461|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15184651|PMID:15322983|PMID:15358028|PMID:15386449|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15699387|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15857933|PMID:15858117|PMID:15940186|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16630450|PMID:16650083|PMID:16684601|PMID:16715312|PMID:16754800|PMID:16858239|PMID:16870472|PMID:16918501|PMID:16938236|PMID:16983074|PMID:17019812|PMID:17095604|PMID:17097032|PMID:17118657|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17336526|PMID:17351073|PMID:17372140|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17599605|PMID:17612745|PMID:17643520|PMID:17703256|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18076673|PMID:18159245|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18380764|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19035361|PMID:19134269|PMID:19138847|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19586842|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808347|PMID:19808356|PMID:19843903|PMID:19854198|PMID:19864899|PMID:19880069|PMID:19913502|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20038417|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20301436|PMID:20309391|PMID:20350521|PMID:20359594|PMID:20376763|PMID:20378854|PMID:20394946|PMID:20428263|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20573160|PMID:2062450|PMID:20624503|PMID:20641121|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20738943|PMID:20800588|PMID:20811150|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20865685|PMID:20952769|PMID:20965760|PMID:20975235|PMID:20981092|PMID:21127202|PMID:21183079|PMID:21185001|PMID:21211974|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21288719|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21425739|PMID:21426742|PMID:21482996|PMID:21483645|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21817903|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21846512|PMID:21896538|PMID:21943931|PMID:21958740|PMID:21959974|PMID:22037585|PMID:22112859|PMID:22155079|PMID:22177269|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22784669|PMID:22811549|PMID:22857948|PMID:22859017|PMID:22918376|PMID:22949430|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321 12218123 MYH7 myosin heavy chain 7 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23153285|PMID:23197161|PMID:23197398|PMID:23233322|PMID:23271734|PMID:23274168|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23313350|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23426552|PMID:23478172|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:23870641|PMID:23956225|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24215330|PMID:24268868|PMID:24298987|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24558114|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24749114|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:24963656|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25182012|PMID:25189259|PMID:25214167|PMID:25228707|PMID:25239116|PMID:25326635|PMID:25327599|PMID:25332820|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25422285|PMID:25447171|PMID:25447691|PMID:25448463|PMID:25467552|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25547560|PMID:25558701|PMID:25569433|PMID:25576864|PMID:25607779|PMID:25611685|PMID:25637381|PMID:25640679|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25931334|PMID:25935763|PMID:25937279|PMID:25937619|PMID:25961035|PMID:25979592|PMID:26025024|PMID:26084686|PMID:26150528|PMID:26162782|PMID:26178432|PMID:26187847|PMID:26199943|PMID:26220970|PMID:26223264|PMID:26246073|PMID:26271555|PMID:26272908|PMID:26332594|PMID:26337809|PMID:26383716|PMID:26406308|PMID:26446785|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26654849|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26782017|PMID:26846766|PMID:26899768|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161364|PMID:27161882|PMID:27194543|PMID:27217341|PMID:27224906|PMID:27247418|PMID:27282841|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27519903|PMID:27527004|PMID:2753225|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27600940|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27788187|PMID:27831900|PMID:27841901|PMID:27854218|PMID:27884173|PMID:27885498|PMID:2790153|PMID:27930701|PMID:27965028|PMID:27974200|PMID:28002430|PMID:28005231|PMID:28045975|PMID:28067235|PMID:28087426|PMID:28125727|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28395747|PMID:28396031|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28449774|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28642161|PMID:28687478|PMID:28699631|PMID:28704380|PMID:28706299|PMID:28750076|PMID:28759816|PMID:28771489|PMID:28775348|PMID:28777849|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28815794|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28912206|PMID:28927399|PMID:28971120|PMID:28973424|PMID:28986452|PMID:28986455|PMID:29029073|PMID:29030401|PMID:29073106|PMID:29093449|PMID:29095814|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29178653|PMID:29192238|PMID:29212898|PMID:29253866|PMID:29255176|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29386531|PMID:29398688|PMID:29420653|PMID:29447731|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29540472|PMID:29624713|PMID:29631964|PMID:29661763|PMID:29666183|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29867217|PMID:29875424|PMID:29892087|PMID:29907873|PMID:29915097|PMID:29915098|PMID:29970176 12218123 MYH7 myosin heavy chain 7 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:29997562|PMID:30022097|PMID:30025578|PMID:30052928|PMID:30095857|PMID:30105547|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30298955|PMID:30327538|PMID:30359267|PMID:30371277|PMID:30384889|PMID:30385303|PMID:30403391|PMID:30462978|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30578397|PMID:30588760|PMID:30615648|PMID:30623132|PMID:30665703|PMID:30674652|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30745532|PMID:30755392|PMID:30775854|PMID:30794915|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30972196|PMID:30984009|PMID:30996762|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31064352|PMID:31110529|PMID:31112422|PMID:31130284|PMID:31130376|PMID:31147515|PMID:31156706|PMID:31195250|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31424582|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31514951|PMID:31517061|PMID:31534214|PMID:31568572|PMID:31582565|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31735781|PMID:31737537|PMID:31771441|PMID:31783775|PMID:31790337|PMID:31918855|PMID:31919335|PMID:31931472|PMID:31931689|PMID:31941943|PMID:31977013|PMID:31980526|PMID:31983221|PMID:31983222|PMID:32013205|PMID:3203908|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32381727|PMID:32403337|PMID:32410215|PMID:32422568|PMID:32458740|PMID:32481709|PMID:32492895|PMID:32516855|PMID:32528171|PMID:32531501|PMID:32607476|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32710294|PMID:32731933|PMID:32746448|PMID:32789579|PMID:32815737|PMID:32830170|PMID:32833721|PMID:32880476|PMID:32894683|PMID:32931854|PMID:32960281|PMID:32968017|PMID:32969603|PMID:33019804|PMID:33087929|PMID:33190526|PMID:33232181|PMID:33297573|PMID:33302605|PMID:33309763|PMID:33382884|PMID:33407484|PMID:33448871|PMID:33448881|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33586461|PMID:33605878|PMID:33658040|PMID:33673806|PMID:33764162|PMID:33874732|PMID:33906374|PMID:34008892|PMID:34011823|PMID:34036930|PMID:34067482|PMID:34135346|PMID:34213952|PMID:34263907|PMID:34310159|PMID:34426522|PMID:34460321|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34598319|PMID:34615813|PMID:34621001|PMID:34667957|PMID:34675999|PMID:34691145|PMID:34752814|PMID:34935411|PMID:34949102|PMID:35050212|PMID:35063694|PMID:35265679|PMID:35288587|PMID:35456187|PMID:35535697|PMID:35544052|PMID:35653365|PMID:36129056|PMID:4104682|PMID:7532257|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7648684|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7739336|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7815466|PMID:7848420|PMID:7848441|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8250038|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8343162|PMID:8375803|PMID:8435239|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9047366|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9476679|PMID:9503187|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9874056|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:11984 hypertrophic cardiomyopathy severity ISO RGD:736718 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.R719W (human) PMID:9154300|REF_RGD_ID:11065270 12218123 MYH7 myosin heavy chain 7 gene DOID:11984 hypertrophic cardiomyopathy treatment ISO RGD:62322 D RGD:9068941 20221110 RGD protein:increased expression:heart (human) PMID:27249171|REF_RGD_ID:155646134 12218123 MYH7 myosin heavy chain 7 gene DOID:12930 dilated cardiomyopathy ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10662815|PMID:10900182|PMID:11106718|PMID:11133230|PMID:12084606|PMID:12379228|PMID:12707239|PMID:12881443|PMID:12951062|PMID:12974739|PMID:12975413|PMID:15001446|PMID:15322983|PMID:15358028|PMID:1552912|PMID:15556047|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16715312|PMID:16754800|PMID:16983074|PMID:17192269|PMID:17351073|PMID:17372140|PMID:1739523|PMID:17495353|PMID:17576681|PMID:17599605|PMID:17947214|PMID:18175163|PMID:18258667|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18555187|PMID:18660445|PMID:19293840|PMID:19412328|PMID:19477645|PMID:1975599|PMID:19808347|PMID:19854198|PMID:19864899|PMID:20031602|PMID:20031619|PMID:20428263|PMID:20474083|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20733148|PMID:20800588|PMID:20965760|PMID:21211974|PMID:21310275|PMID:2136805|PMID:21482996|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21839045|PMID:21943931|PMID:22155079|PMID:22260945|PMID:22337857|PMID:22464770|PMID:22763267|PMID:22918376|PMID:22949430|PMID:22958901|PMID:23054336|PMID:23153285|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23299917|PMID:23313350|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23707328|PMID:23798412|PMID:23861362|PMID:24033266|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24344137|PMID:24503780|PMID:24664454|PMID:24691700|PMID:24721642|PMID:24758099|PMID:24829265|PMID:25031304|PMID:25125180|PMID:25163446|PMID:25163546|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25576864|PMID:25607779|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25741868|PMID:25937279|PMID:25961035|PMID:26025024|PMID:26220970|PMID:26383716|PMID:26467025|PMID:26497160|PMID:26688388|PMID:26743238|PMID:27153395|PMID:27247418|PMID:27387980|PMID:2753225|PMID:27532257|PMID:27576561|PMID:27600940|PMID:28045975|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28588093|PMID:28750076|PMID:28771251|PMID:28790153|PMID:28798025|PMID:28855170|PMID:29093449|PMID:29212898|PMID:29300372|PMID:29447731|PMID:29666183|PMID:29709087|PMID:29773157|PMID:29867217|PMID:30122538|PMID:30775854|PMID:31006259|PMID:31317183|PMID:31333075|PMID:31568572|PMID:3203908|PMID:32458740|PMID:33673806|PMID:34008892|PMID:34460321|PMID:7731997|PMID:7883988|PMID:7909436|PMID:8250038|PMID:8335820|PMID:8614836|PMID:8655135|PMID:8981935|PMID:9536098|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:12930 dilated cardiomyopathy ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10662815|PMID:10900182|PMID:11106718|PMID:11133230|PMID:12084606|PMID:12379228|PMID:12707239|PMID:12881443|PMID:12951062|PMID:12974739|PMID:12975413|PMID:15001446|PMID:15322983|PMID:15358028|PMID:1552912|PMID:15556047|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16715312|PMID:16754800|PMID:16983074|PMID:17192269|PMID:17351073|PMID:17372140|PMID:1739523|PMID:17495353|PMID:17576681|PMID:17599605|PMID:17947214|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18555187|PMID:18660445|PMID:19293840|PMID:19412328|PMID:19477645|PMID:1975599|PMID:19808347|PMID:19854198|PMID:19864899|PMID:20031602|PMID:20031619|PMID:20428263|PMID:20474083|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20733148|PMID:20800588|PMID:20965760|PMID:21211974|PMID:21310275|PMID:2136805|PMID:21482996|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21750094|PMID:21839045|PMID:21943931|PMID:22155079|PMID:22260945|PMID:22337857|PMID:22464770|PMID:22763267|PMID:22918376|PMID:22949430|PMID:22958901|PMID:23054336|PMID:23153285|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23299917|PMID:23313350|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23707328|PMID:23798412|PMID:23861362|PMID:24033266|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24344137|PMID:24503780|PMID:24664454|PMID:24691700|PMID:24721642|PMID:24758099|PMID:24829265|PMID:25031304|PMID:25125180|PMID:25163446|PMID:25163546|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25576864|PMID:25607779|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25741868|PMID:25937279|PMID:25961035|PMID:26025024|PMID:26220970|PMID:26383716|PMID:26467025|PMID:26497160|PMID:26688388|PMID:26743238|PMID:27153395|PMID:27247418|PMID:27373729|PMID:27387980|PMID:2753225|PMID:27532257|PMID:27576561|PMID:27600940|PMID:28045975|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28588093|PMID:28750076|PMID:28771251|PMID:28790153|PMID:28798025|PMID:28855170|PMID:29029073|PMID:29093449|PMID:29212898|PMID:29300372|PMID:29447731|PMID:29666183|PMID:29709087|PMID:29773157|PMID:29867217|PMID:29907873|PMID:30122538|PMID:30775854|PMID:31006259|PMID:31317183|PMID:31333075|PMID:31513939|PMID:31568572|PMID:32013205|PMID:3203908|PMID:32283115|PMID:32458740|PMID:33673806|PMID:34008892|PMID:34213952|PMID:34460321|PMID:7731997|PMID:7883988|PMID:7909436|PMID:8250038|PMID:8335820|PMID:8614836|PMID:8655135|PMID:8981935|PMID:9536098|PMID:9541100|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:12930 dilated cardiomyopathy ISO RGD:736718 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10662815|PMID:10900182|PMID:11106718|PMID:11133230|PMID:12084606|PMID:12379228|PMID:12707239|PMID:12881443|PMID:12951062|PMID:12974739|PMID:12975413|PMID:15001446|PMID:15322983|PMID:15358028|PMID:1552912|PMID:15556047|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16715312|PMID:16754800|PMID:16983074|PMID:17192269|PMID:17351073|PMID:17372140|PMID:1739523|PMID:17495353|PMID:17576681|PMID:17599605|PMID:17947214|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18555187|PMID:18660445|PMID:19412328|PMID:19477645|PMID:1975599|PMID:19808347|PMID:19854198|PMID:19864899|PMID:20031602|PMID:20031619|PMID:20428263|PMID:20474083|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20733148|PMID:20800588|PMID:20965760|PMID:21211974|PMID:21310275|PMID:2136805|PMID:21482996|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21943931|PMID:22155079|PMID:22260945|PMID:22337857|PMID:22464770|PMID:22763267|PMID:22918376|PMID:22949430|PMID:22958901|PMID:23054336|PMID:23153285|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23299917|PMID:23313350|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23707328|PMID:23798412|PMID:23861362|PMID:24033266|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24344137|PMID:24503780|PMID:24664454|PMID:24691700|PMID:24721642|PMID:24758099|PMID:24829265|PMID:25031304|PMID:25125180|PMID:25163446|PMID:25163546|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25576864|PMID:25607779|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25741868|PMID:25937279|PMID:25961035|PMID:26025024|PMID:26220970|PMID:26383716|PMID:26467025|PMID:26497160|PMID:26688388|PMID:26743238|PMID:27153395|PMID:27247418|PMID:27373729|PMID:2753225|PMID:27532257|PMID:27576561|PMID:27600940|PMID:28045975|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28588093|PMID:28750076|PMID:28771251|PMID:28790153|PMID:28798025|PMID:28855170|PMID:29029073|PMID:29093449|PMID:29212898|PMID:29300372|PMID:29447731|PMID:29666183|PMID:29709087|PMID:29773157|PMID:29867217|PMID:29907873|PMID:30122538|PMID:30775854|PMID:31006259|PMID:31317183|PMID:31333075|PMID:31513939|PMID:31568572|PMID:31638223|PMID:31931689|PMID:32013205|PMID:3203908|PMID:32283115|PMID:32458740|PMID:33673806|PMID:34008892|PMID:34213952|PMID:34460321|PMID:7731997|PMID:7883988|PMID:7909436|PMID:8250038|PMID:8335820|PMID:8614836|PMID:8655135|PMID:8981935|PMID:9536098|PMID:9541100|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:12930 dilated cardiomyopathy ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10662815|PMID:10900182|PMID:11106718|PMID:11133230|PMID:12084606|PMID:12379228|PMID:12707239|PMID:12881443|PMID:12951062|PMID:12974739|PMID:12975413|PMID:15001446|PMID:15322983|PMID:15358028|PMID:1552912|PMID:15556047|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16715312|PMID:16754800|PMID:16983074|PMID:17192269|PMID:17351073|PMID:17372140|PMID:1739523|PMID:17495353|PMID:17576681|PMID:17599605|PMID:17947214|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18555187|PMID:18660445|PMID:19293840|PMID:19412328|PMID:19477645|PMID:1975599|PMID:19808347|PMID:19854198|PMID:19864899|PMID:20031602|PMID:20031619|PMID:20428263|PMID:20474083|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20733148|PMID:20800588|PMID:20965760|PMID:21211974|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21482996|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21750094|PMID:21839045|PMID:21943931|PMID:22155079|PMID:22260945|PMID:22337857|PMID:22464770|PMID:22763267|PMID:22918376|PMID:22949430|PMID:22958901|PMID:23054336|PMID:23153285|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23299917|PMID:23313350|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23707328|PMID:23798412|PMID:23861362|PMID:24033266|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24344137|PMID:24503780|PMID:24664454|PMID:24691700|PMID:24721642|PMID:24758099|PMID:24829265|PMID:25031304|PMID:25125180|PMID:25163446|PMID:25163546|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25576864|PMID:25607779|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25741868|PMID:25937279|PMID:25961035|PMID:26025024|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26467025|PMID:26497160|PMID:26688388|PMID:26743238|PMID:27153395|PMID:27247418|PMID:27373729|PMID:2753225|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:28045975|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28588093|PMID:28750076|PMID:28771251|PMID:28790153|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28971120|PMID:29029073|PMID:29093449|PMID:29212898|PMID:29253866|PMID:29300372|PMID:29447731|PMID:29666183|PMID:29709087|PMID:29773157|PMID:29867217|PMID:29892087|PMID:29907873|PMID:29915098|PMID:30095857|PMID:30122538|PMID:30188508|PMID:30298955|PMID:30371277|PMID:30775854|PMID:30847666|PMID:31006259|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31638223|PMID:31737537|PMID:31783775|PMID:31931689|PMID:31983221|PMID:32013205|PMID:3203908|PMID:32228044|PMID:32283115|PMID:32458740|PMID:32528171|PMID:32659924|PMID:32789579|PMID:33673806|PMID:34008892|PMID:34213952|PMID:34460321|PMID:34935411|PMID:7731997|PMID:7883988|PMID:7909436|PMID:8250038|PMID:8335820|PMID:8614836|PMID:8655135|PMID:8981935|PMID:9536098|PMID:9541100|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:12930 dilated cardiomyopathy ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10662815|PMID:10900182|PMID:11106718|PMID:11133230|PMID:12084606|PMID:12379228|PMID:12707239|PMID:12881443|PMID:12951062|PMID:12974739|PMID:12975413|PMID:15001446|PMID:15322983|PMID:15358028|PMID:1552912|PMID:15556047|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16715312|PMID:16754800|PMID:16983074|PMID:17192269|PMID:17351073|PMID:17372140|PMID:1739523|PMID:17495353|PMID:17576681|PMID:17599605|PMID:17947214|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18555187|PMID:18660445|PMID:19293840|PMID:19412328|PMID:19477645|PMID:1975599|PMID:19808347|PMID:19854198|PMID:19864899|PMID:20031602|PMID:20031619|PMID:20428263|PMID:20474083|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20733148|PMID:20800588|PMID:20965760|PMID:21211974|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21482996|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21750094|PMID:21839045|PMID:21943931|PMID:22155079|PMID:22260945|PMID:22337857|PMID:22464770|PMID:22763267|PMID:22918376|PMID:22949430|PMID:22958901|PMID:23054336|PMID:23153285|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23299917|PMID:23313350|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23707328|PMID:23798412|PMID:23861362|PMID:24033266|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24344137|PMID:24503780|PMID:24664454|PMID:24691700|PMID:24721642|PMID:24758099|PMID:24829265|PMID:25031304|PMID:25125180|PMID:25163446|PMID:25163546|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25576864|PMID:25607779|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25741868|PMID:25937279|PMID:25961035|PMID:26025024|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26467025|PMID:26497160|PMID:26688388|PMID:26743238|PMID:27153395|PMID:27247418|PMID:27373729|PMID:2753225|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:28045975|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28498465|PMID:28588093|PMID:28750076|PMID:28771251|PMID:28790153|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28971120|PMID:29029073|PMID:29093449|PMID:29212898|PMID:29253866|PMID:29300372|PMID:29447731|PMID:29666183|PMID:29709087|PMID:29773157|PMID:29867217|PMID:29892087|PMID:29907873|PMID:29915098|PMID:30095857|PMID:30122538|PMID:30188508|PMID:30298955|PMID:30371277|PMID:30775854|PMID:30794915|PMID:30847666|PMID:30996762|PMID:31006259|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31638223|PMID:31737537|PMID:31783775|PMID:31931689|PMID:31983221|PMID:32013205|PMID:3203908|PMID:32228044|PMID:32283115|PMID:32458740|PMID:32528171|PMID:32659924|PMID:32789579|PMID:32880476|PMID:33673806|PMID:34008892|PMID:34213952|PMID:34460321|PMID:34935411|PMID:7731997|PMID:7883988|PMID:7909436|PMID:8250038|PMID:8335820|PMID:8614836|PMID:8655135|PMID:8981935|PMID:9536098|PMID:9541100|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:12930 dilated cardiomyopathy ISO RGD:736718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10662815|PMID:10900182|PMID:11106718|PMID:11133230|PMID:12084606|PMID:12379228|PMID:12707239|PMID:12881443|PMID:12951062|PMID:12974739|PMID:12975413|PMID:15001446|PMID:15322983|PMID:15358028|PMID:1552912|PMID:15556047|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16715312|PMID:16754800|PMID:16983074|PMID:17192269|PMID:17351073|PMID:17372140|PMID:1739523|PMID:17495353|PMID:17576681|PMID:17599605|PMID:17947214|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18555187|PMID:18660445|PMID:19293840|PMID:19412328|PMID:19477645|PMID:1975599|PMID:19808347|PMID:19854198|PMID:19864899|PMID:20031602|PMID:20031619|PMID:20428263|PMID:20474083|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20733148|PMID:20800588|PMID:20965760|PMID:21211974|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21482996|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21750094|PMID:21839045|PMID:21943931|PMID:22155079|PMID:22260945|PMID:22337857|PMID:22464770|PMID:22763267|PMID:22918376|PMID:22949430|PMID:22958901|PMID:23054336|PMID:23153285|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23299917|PMID:23313350|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23707328|PMID:23798412|PMID:23861362|PMID:24033266|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24344137|PMID:24503780|PMID:24664454|PMID:24691700|PMID:24721642|PMID:24758099|PMID:24829265|PMID:25031304|PMID:25125180|PMID:25163446|PMID:25163546|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25576864|PMID:25607779|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25741868|PMID:25937279|PMID:25961035|PMID:26025024|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26467025|PMID:26497160|PMID:26688388|PMID:26743238|PMID:27153395|PMID:27247418|PMID:27373729|PMID:2753225|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:28045975|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28498465|PMID:28588093|PMID:28750076|PMID:28771251|PMID:28790153|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28971120|PMID:29029073|PMID:29093449|PMID:29212898|PMID:29253866|PMID:29300372|PMID:29447731|PMID:29666183|PMID:29709087|PMID:29773157|PMID:29867217|PMID:29892087|PMID:29907873|PMID:29915098|PMID:30095857|PMID:30122538|PMID:30188508|PMID:30298955|PMID:30371277|PMID:30775854|PMID:30794915|PMID:30847666|PMID:30996762|PMID:31006259|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31638223|PMID:31737537|PMID:31783775|PMID:31931689|PMID:31983221|PMID:32013205|PMID:3203908|PMID:32228044|PMID:32283115|PMID:32458740|PMID:32528171|PMID:32659924|PMID:32789579|PMID:32880476|PMID:33673806|PMID:34008892|PMID:34213952|PMID:34460321|PMID:34935411|PMID:7731997|PMID:7883988|PMID:7909436|PMID:8250038|PMID:8335820|PMID:8614836|PMID:8655135|PMID:8981935|PMID:9536098|PMID:9541100|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:12930 dilated cardiomyopathy ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10662815|PMID:10900182|PMID:11106718|PMID:11133230|PMID:12084606|PMID:12379228|PMID:12707239|PMID:12881443|PMID:12951062|PMID:12974739|PMID:12975413|PMID:15001446|PMID:15322983|PMID:15358028|PMID:1552912|PMID:15556047|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16715312|PMID:16754800|PMID:16983074|PMID:17192269|PMID:17351073|PMID:17372140|PMID:1739523|PMID:17495353|PMID:17576681|PMID:17599605|PMID:17947214|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18555187|PMID:18660445|PMID:19293840|PMID:19412328|PMID:19477645|PMID:1975599|PMID:19808347|PMID:19854198|PMID:19864899|PMID:20031602|PMID:20031619|PMID:20428263|PMID:20474083|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20733148|PMID:20800588|PMID:20965760|PMID:21211974|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21482996|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21750094|PMID:21839045|PMID:21943931|PMID:22155079|PMID:22260945|PMID:22337857|PMID:22464770|PMID:22763267|PMID:22918376|PMID:22949430|PMID:22958901|PMID:23054336|PMID:23153285|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23299917|PMID:23313350|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23707328|PMID:23798412|PMID:23861362|PMID:24033266|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24344137|PMID:24503780|PMID:24664454|PMID:24691700|PMID:24721642|PMID:24758099|PMID:24829265|PMID:25031304|PMID:25125180|PMID:25163446|PMID:25163546|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25576864|PMID:25607779|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25741868|PMID:25937279|PMID:25961035|PMID:26025024|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26467025|PMID:26497160|PMID:26688388|PMID:26743238|PMID:27153395|PMID:27247418|PMID:27373729|PMID:2753225|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:28045975|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28498465|PMID:28588093|PMID:28750076|PMID:28771251|PMID:28790153|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28971120|PMID:29029073|PMID:29093449|PMID:29212898|PMID:29253866|PMID:29300372|PMID:29447731|PMID:29666183|PMID:29709087|PMID:29773157|PMID:29867217|PMID:29892087|PMID:29907873|PMID:29915098|PMID:30095857|PMID:30122538|PMID:30188508|PMID:30298955|PMID:30371277|PMID:30775854|PMID:30794915|PMID:30847666|PMID:30996762|PMID:31006259|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31638223|PMID:31737537|PMID:31783775|PMID:31931689|PMID:31983221|PMID:32013205|PMID:3203908|PMID:32228044|PMID:32283115|PMID:32458740|PMID:32528171|PMID:32659924|PMID:32789579|PMID:32880476|PMID:33673806|PMID:34008892|PMID:34213952|PMID:34460321|PMID:34935411|PMID:35288587|PMID:7731997|PMID:7883988|PMID:7909436|PMID:8250038|PMID:8335820|PMID:8614836|PMID:8655135|PMID:8981935|PMID:9536098|PMID:9541100|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:12930 dilated cardiomyopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10662815|PMID:10900182|PMID:11106718|PMID:11133230|PMID:12084606|PMID:12379228|PMID:12707239|PMID:12881443|PMID:12951062|PMID:12974739|PMID:12975413|PMID:15001446|PMID:15322983|PMID:15358028|PMID:1552912|PMID:15556047|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16715312|PMID:16754800|PMID:16983074|PMID:17192269|PMID:17351073|PMID:17372140|PMID:1739523|PMID:17495353|PMID:17576681|PMID:17599605|PMID:17947214|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18555187|PMID:18660445|PMID:19293840|PMID:19412328|PMID:19477645|PMID:1975599|PMID:19808347|PMID:19854198|PMID:19864899|PMID:20031602|PMID:20031619|PMID:20428263|PMID:20474083|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20733148|PMID:20800588|PMID:20965760|PMID:21211974|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21482996|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21750094|PMID:21839045|PMID:21943931|PMID:22155079|PMID:22260945|PMID:22337857|PMID:22464770|PMID:22763267|PMID:22918376|PMID:22949430|PMID:22958901|PMID:23054336|PMID:23153285|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23299917|PMID:23313350|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23707328|PMID:23798412|PMID:23861362|PMID:24033266|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24344137|PMID:24503780|PMID:24664454|PMID:24691700|PMID:24721642|PMID:24758099|PMID:24829265|PMID:25031304|PMID:25125180|PMID:25163446|PMID:25163546|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25576864|PMID:25607779|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25741868|PMID:25937279|PMID:25961035|PMID:26025024|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26467025|PMID:26497160|PMID:26688388|PMID:26743238|PMID:27153395|PMID:27247418|PMID:27373729|PMID:2753225|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:28045975|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28498465|PMID:28588093|PMID:28750076|PMID:28771251|PMID:28790153|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28971120|PMID:29029073|PMID:29093449|PMID:29212898|PMID:29253866|PMID:29300372|PMID:29447731|PMID:29666183|PMID:29709087|PMID:29773157|PMID:29867217|PMID:29892087|PMID:29907873|PMID:29915098|PMID:30095857|PMID:30122538|PMID:30188508|PMID:30298955|PMID:30371277|PMID:30775854|PMID:30794915|PMID:30847666|PMID:30996762|PMID:31006259|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31638223|PMID:31737537|PMID:31783775|PMID:31931689|PMID:31983221|PMID:32013205|PMID:3203908|PMID:32228044|PMID:32283115|PMID:32458740|PMID:32528171|PMID:32659924|PMID:32789579|PMID:32880476|PMID:33500567|PMID:33673806|PMID:34008892|PMID:34213952|PMID:34460321|PMID:34542152|PMID:34935411|PMID:35288587|PMID:7731997|PMID:7883988|PMID:7909436|PMID:8250038|PMID:8335820|PMID:8614836|PMID:8655135|PMID:8981935|PMID:9536098|PMID:9541100|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:12930 dilated cardiomyopathy onset ISO RGD:736718 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:p.S532P, p.F764L (human) PMID:11106718|REF_RGD_ID:1556469 12218123 MYH7 myosin heavy chain 7 gene DOID:14289 Ebstein anomaly ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ebstein anomaly PMID:21127202|PMID:23956225|PMID:24033266|PMID:27153395|PMID:28492532|PMID:29300372 12218123 MYH7 myosin heavy chain 7 gene DOID:1459 hypothyroidism ISO RGD:62030 D RGD:9068941 20200609 RGD PMID:1703406|PMID:2950137|REF_RGD_ID:12792943|REF_RGD_ID:12798563 12218123 MYH7 myosin heavy chain 7 gene DOID:14791 Leber congenital amaurosis ISO RGD:736718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:10862102|PMID:12975413|PMID:19149795|PMID:20075948|PMID:20298698|PMID:20975235|PMID:22112859|PMID:23299917|PMID:24033266|PMID:24621997|PMID:25132132|PMID:25637381|PMID:25741868|PMID:27247418|PMID:27532257|PMID:28492532|PMID:28771489|PMID:29300372|PMID:29907873|PMID:30022097|PMID:30206291|PMID:30217213|PMID:32165824|PMID:32492895 12218123 MYH7 myosin heavy chain 7 gene DOID:1682 congenital heart disease ISO RGD:736718 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R281T (c.842G>C) (human) PMID:18159245|REF_RGD_ID:11098258 12218123 MYH7 myosin heavy chain 7 gene DOID:1882 atrial heart septal defect ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect 12218123 MYH7 myosin heavy chain 7 gene DOID:2340 craniosynostosis ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lambdoid synostosis PMID:25741868|PMID:28492532|PMID:29892087|PMID:31737537 12218123 MYH7 myosin heavy chain 7 gene DOID:2843 long QT syndrome ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prolonged QT interval PMID:25741868|PMID:27532257|PMID:28492532 12218123 MYH7 myosin heavy chain 7 gene DOID:2843 long QT syndrome ISO RGD:736718 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 12218123 MYH7 myosin heavy chain 7 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:10521296|PMID:11186938|PMID:11447480|PMID:12749056|PMID:15358028|PMID:15757018|PMID:16267253|PMID:16858239|PMID:17125710|PMID:18029407|PMID:18409188|PMID:18506004|PMID:19150014|PMID:19880069|PMID:20031618|PMID:20624503|PMID:20965760|PMID:21127202|PMID:21239446|PMID:21310275|PMID:21551322|PMID:21799269|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23074333|PMID:23140321|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23794396|PMID:24033266|PMID:24038877|PMID:24093860|PMID:24111713|PMID:24714796|PMID:24793961|PMID:25031304|PMID:25214167|PMID:25342278|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26497160|PMID:26743238|PMID:26969327|PMID:27066506|PMID:27247418|PMID:27387980|PMID:27532257|PMID:27737317|PMID:27788187|PMID:27831900|PMID:28138913|PMID:28356264|PMID:28420666|PMID:28492532|PMID:28606303|PMID:28615295|PMID:28790153|PMID:28912206|PMID:29121657|PMID:29300372|PMID:29447731|PMID:30291343|PMID:30755392|PMID:30871747|PMID:31006259|PMID:31110529|PMID:31447099|PMID:31589614|PMID:32233023|PMID:33297573|PMID:33673806|PMID:7581410 12218123 MYH7 myosin heavy chain 7 gene DOID:397 restrictive cardiomyopathy ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:11861413|PMID:12707239|PMID:15358028|PMID:15483641|PMID:15769782|PMID:17125710|PMID:17336526|PMID:18076673|PMID:18380764|PMID:18409188|PMID:19150014|PMID:20394946|PMID:20800588|PMID:20818890|PMID:20981092|PMID:21302287|PMID:21310275|PMID:21425739|PMID:22260945|PMID:22763267|PMID:22765922|PMID:22958901|PMID:23299917|PMID:23396983|PMID:23549607|PMID:23690394|PMID:23861362|PMID:23870641|PMID:24033266|PMID:25125180|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25741868|PMID:25935763|PMID:26084686|PMID:26467025|PMID:26654849|PMID:26846766|PMID:26914223|PMID:27224906|PMID:27247418|PMID:27532257|PMID:27600940|PMID:27884173|PMID:27965028|PMID:28067235|PMID:28356264|PMID:28492532|PMID:28606303|PMID:28855170|PMID:29178653|PMID:29300372|PMID:29631964|PMID:30105547|PMID:30745532|PMID:32013205|PMID:33495597|PMID:34542152 12218123 MYH7 myosin heavy chain 7 gene DOID:422 congenital structural myopathy ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:10024460|PMID:10065021|PMID:10328076|PMID:10521296|PMID:10725281|PMID:10750581|PMID:10882745|PMID:11133230|PMID:11186938|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11968089|PMID:12081993|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12975413|PMID:1430197|PMID:15010274|PMID:15136674|PMID:15358028|PMID:15483641|PMID:15528230|PMID:1552912|PMID:15563892|PMID:15757018|PMID:15856146|PMID:15858117|PMID:16199542|PMID:16267253|PMID:1638703|PMID:16630449|PMID:16858239|PMID:16918501|PMID:17125710|PMID:17438619|PMID:17560888|PMID:17612745|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:18761664|PMID:19150014|PMID:1944483|PMID:19666645|PMID:1975517|PMID:19880069|PMID:20031618|PMID:20350521|PMID:20800588|PMID:21127202|PMID:21239446|PMID:21310275|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22429680|PMID:22455086|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23197161|PMID:23233322|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23396983|PMID:23403236|PMID:23549607|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24183960|PMID:24298987|PMID:24503780|PMID:24510615|PMID:24691700|PMID:24704860|PMID:24793961|PMID:25031304|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:25937619|PMID:26573135|PMID:26743238|PMID:26914223|PMID:26936621|PMID:26969327|PMID:27082122|PMID:27153395|PMID:27247418|PMID:27532257|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27974200|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28518168|PMID:28606303|PMID:28615295|PMID:28790153|PMID:29121657|PMID:29212898|PMID:29300372|PMID:29907873|PMID:30217213|PMID:30291343|PMID:30297972|PMID:30511546|PMID:30731207|PMID:30755392|PMID:30847666|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31110529|PMID:31199839|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31931472|PMID:32233023|PMID:32284968|PMID:32381727|PMID:33297573|PMID:33673806|PMID:34540771|PMID:7581410|PMID:7662452|PMID:7731997|PMID:7848420|PMID:8186698|PMID:8254035|PMID:8268932|PMID:9105042|PMID:9140839|PMID:9826622|PMID:9835779 12218123 MYH7 myosin heavy chain 7 gene DOID:422 congenital structural myopathy ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:15000344|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18565996|PMID:18660445|PMID:18761664|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:27532257|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28606303 12218123 MYH7 myosin heavy chain 7 gene DOID:422 congenital structural myopathy ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:28615295|PMID:28640247|PMID:28687478|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29447731|PMID:29517769|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:30022097|PMID:30122538|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32381727|PMID:32492895|PMID:32531501|PMID:32612965|PMID:32659924|PMID:32880476|PMID:32894683|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34426522|PMID:34540771|PMID:34542152|PMID:35535697|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:422 congenital structural myopathy ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:28615295|PMID:28640247|PMID:28687478|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28912206|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29447731|PMID:29517769|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:30022097|PMID:30122538|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32381727|PMID:32492895|PMID:32531501|PMID:32612965|PMID:32659924|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34949102|PMID:35535697|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:422 congenital structural myopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:28615295|PMID:28640247|PMID:28687478|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28912206|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29447731|PMID:29517769|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:30022097|PMID:30122538|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32381727|PMID:32492895|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34949102|PMID:35535697|PMID:35653365|PMID:36129056|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:423 myopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myopathy PMID:15358028|PMID:16938236|PMID:19149795|PMID:20975235|PMID:22958901|PMID:24033266|PMID:24093860|PMID:24111713|PMID:24793961|PMID:25086479|PMID:25611685|PMID:25741868|PMID:25937619|PMID:26187847|PMID:27247418|PMID:27532257|PMID:28492532|PMID:28498465|PMID:31513939|PMID:31589614|PMID:32894683|PMID:34542152 12218123 MYH7 myosin heavy chain 7 gene DOID:4248 coronary stenosis ISO RGD:736718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12721106 12218123 MYH7 myosin heavy chain 7 gene DOID:440 neuromuscular disease ISO RGD:736718 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neuromuscular disorder PMID:19477645|PMID:22918376|PMID:24033266|PMID:24503780|PMID:24664454|PMID:25576864|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28855170|PMID:29300372 12218123 MYH7 myosin heavy chain 7 gene DOID:5810 adenosine deaminase deficiency ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bubble boy disease PMID:10521296|PMID:11186938|PMID:11447480|PMID:15358028|PMID:16858239|PMID:17125710|PMID:18029407|PMID:19880069|PMID:20031618|PMID:21310275|PMID:22857948|PMID:22975586|PMID:23233322|PMID:23283745|PMID:23299917|PMID:24033266|PMID:24038877|PMID:24093860|PMID:24111713|PMID:24793961|PMID:25031304|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26743238|PMID:26969327|PMID:27247418|PMID:27532257|PMID:27737317|PMID:27831900|PMID:28138913|PMID:28420666|PMID:28492532|PMID:28606303|PMID:28615295|PMID:28790153|PMID:30291343|PMID:30755392|PMID:31006259|PMID:31110529|PMID:31447099|PMID:31589614|PMID:32233023|PMID:33297573|PMID:33673806|PMID:7581410 12218123 MYH7 myosin heavy chain 7 gene DOID:5844 myocardial infarction ISO RGD:62030 D RGD:9068941 20200609 RGD PMID:15090263|REF_RGD_ID:11565830 12218123 MYH7 myosin heavy chain 7 gene DOID:5844 myocardial infarction ISO RGD:736718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11743230 12218123 MYH7 myosin heavy chain 7 gene DOID:6000 congestive heart failure treatment ISO RGD:62030 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:18088389|REF_RGD_ID:12792974 12218123 MYH7 myosin heavy chain 7 gene DOID:614 lymphopenia ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lymphopenia PMID:10521296|PMID:11186938|PMID:11447480|PMID:15358028|PMID:16858239|PMID:17125710|PMID:18029407|PMID:19880069|PMID:20031618|PMID:21310275|PMID:22857948|PMID:22975586|PMID:23233322|PMID:23283745|PMID:23299917|PMID:24033266|PMID:24038877|PMID:24093860|PMID:24111713|PMID:24793961|PMID:25031304|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26743238|PMID:26969327|PMID:27247418|PMID:27532257|PMID:27737317|PMID:27831900|PMID:28138913|PMID:28420666|PMID:28492532|PMID:28606303|PMID:28615295|PMID:28790153|PMID:30291343|PMID:30755392|PMID:31006259|PMID:31110529|PMID:31447099|PMID:31589614|PMID:32233023|PMID:33297573|PMID:33673806|PMID:7581410 12218123 MYH7 myosin heavy chain 7 gene DOID:627 severe combined immunodeficiency ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:10521296|PMID:11186938|PMID:11447480|PMID:15358028|PMID:16858239|PMID:17125710|PMID:18029407|PMID:19880069|PMID:20031618|PMID:21310275|PMID:22857948|PMID:22975586|PMID:23233322|PMID:23283745|PMID:23299917|PMID:24033266|PMID:24038877|PMID:24093860|PMID:24111713|PMID:24793961|PMID:25031304|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26743238|PMID:26969327|PMID:27247418|PMID:27532257|PMID:27737317|PMID:27831900|PMID:28138913|PMID:28420666|PMID:28492532|PMID:28606303|PMID:28615295|PMID:28790153|PMID:30291343|PMID:30755392|PMID:31006259|PMID:31110529|PMID:31447099|PMID:31589614|PMID:32233023|PMID:33297573|PMID:33673806|PMID:7581410 12218123 MYH7 myosin heavy chain 7 gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined T and B cell immunodeficiency PMID:10521296|PMID:11186938|PMID:11447480|PMID:15358028|PMID:16858239|PMID:17125710|PMID:18029407|PMID:19880069|PMID:20031618|PMID:21310275|PMID:22857948|PMID:22975586|PMID:23233322|PMID:23283745|PMID:23299917|PMID:24033266|PMID:24038877|PMID:24093860|PMID:24111713|PMID:24793961|PMID:25031304|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26743238|PMID:26969327|PMID:27247418|PMID:27532257|PMID:27737317|PMID:27831900|PMID:28138913|PMID:28420666|PMID:28492532|PMID:28606303|PMID:28615295|PMID:28790153|PMID:30291343|PMID:30755392|PMID:31006259|PMID:31110529|PMID:31447099|PMID:31589614|PMID:32233023|PMID:33297573|PMID:33673806|PMID:7581410 12218123 MYH7 myosin heavy chain 7 gene DOID:630 genetic disease ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10900182|PMID:11433818|PMID:12820698|PMID:12974739|PMID:14656445|PMID:15322983|PMID:15358028|PMID:15563892|PMID:16754800|PMID:17372140|PMID:17502101|PMID:17947214|PMID:18383048|PMID:19808347|PMID:19864899|PMID:20031602|PMID:20624503|PMID:20733148|PMID:20800588|PMID:21252143|PMID:2136805|PMID:21499742|PMID:21511876|PMID:21839045|PMID:22455086|PMID:22763267|PMID:22765922|PMID:22918376|PMID:22958901|PMID:23281406|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23426552|PMID:23707328|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:25086479|PMID:25125180|PMID:25163546|PMID:25351510|PMID:25524337|PMID:25666907|PMID:25741868|PMID:26246073|PMID:26332594|PMID:26743238|PMID:26914223|PMID:27532257|PMID:28193612|PMID:28265379|PMID:28408708|PMID:28416588|PMID:28492532|PMID:28615295|PMID:28771489|PMID:28807990|PMID:28971120|PMID:29300372|PMID:29915098|PMID:30588760|PMID:30775854|PMID:31006259|PMID:3203908|PMID:32344918|PMID:32894683|PMID:33309763|PMID:33495597|PMID:33673806|PMID:34542152|PMID:34598319|PMID:35653365|PMID:7883988|PMID:7909436|PMID:8533830|PMID:8614836|PMID:8981935|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:24793961|PMID:25741868|PMID:27532257|PMID:28492532 12218123 MYH7 myosin heavy chain 7 gene DOID:9000184 Ventricular Fibrillation ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:15483641|PMID:20624503|PMID:21310275|PMID:22958901|PMID:23054336|PMID:23197161|PMID:23299917|PMID:23403236|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24047955|PMID:24510615|PMID:25637381|PMID:25741868|PMID:26573135|PMID:27153395|PMID:27247418|PMID:27574918|PMID:28492532|PMID:29300372 12218123 MYH7 myosin heavy chain 7 gene DOID:9000265 Specific Granule Deficiency ISO RGD:736718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 12218123 MYH7 myosin heavy chain 7 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:10024460|PMID:12379228|PMID:12707239|PMID:12749056|PMID:12818575|PMID:12974739|PMID:1430197|PMID:15358028|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15769782|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199547|PMID:16253604|PMID:16630449|PMID:17125710|PMID:17476457|PMID:17576681|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19412328|PMID:19477645|PMID:19645038|PMID:19864899|PMID:20086309|PMID:20359594|PMID:20474083|PMID:20664766|PMID:20975235|PMID:21127202|PMID:21551322|PMID:21750094|PMID:21959974|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22763267|PMID:22859017|PMID:22918376|PMID:22958901|PMID:23233322|PMID:23299917|PMID:23403236|PMID:23508784|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24664454|PMID:24721642|PMID:24758099|PMID:24793961|PMID:25086479|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25576864|PMID:25607779|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26743238|PMID:27082122|PMID:27247418|PMID:27532257|PMID:27600940|PMID:27707468|PMID:27788187|PMID:27930701|PMID:28255936|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28606303|PMID:28704380|PMID:28706299|PMID:28750076|PMID:28790153|PMID:28807990|PMID:28855170|PMID:28878402|PMID:29300372|PMID:30165862|PMID:30471092|PMID:30847666|PMID:31028938|PMID:31333075|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32528171|PMID:32880476|PMID:32894683|PMID:33495597|PMID:33500567|PMID:34008892|PMID:34426522|PMID:34540771|PMID:34542152|PMID:35653365|PMID:7731997|PMID:8533830|PMID:9536098 12218123 MYH7 myosin heavy chain 7 gene DOID:9000590 Dyspnea ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dyspnea PMID:18258667|PMID:24033266|PMID:24111713|PMID:25741868|PMID:26914223|PMID:27930701|PMID:28492532|PMID:28771489|PMID:31737537 12218123 MYH7 myosin heavy chain 7 gene DOID:9000655 Hereditary Motor Neuropathy with Myopathic Features ISO RGD:736718 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neuromyopathy PMID:19477645|PMID:22918376|PMID:24033266|PMID:24503780|PMID:24664454|PMID:25576864|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28855170|PMID:29300372 12218123 MYH7 myosin heavy chain 7 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:16199547|PMID:25741868|PMID:28492532|PMID:29343803 12218123 MYH7 myosin heavy chain 7 gene DOID:9003163 Heart Block ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:16199547|PMID:25741868|PMID:28492532|PMID:29343803 12218123 MYH7 myosin heavy chain 7 gene DOID:9003936 Cardiomegaly ISO RGD:62030 D RGD:9068941 20200609 RGD PMID:1703406|REF_RGD_ID:12798563 12218123 MYH7 myosin heavy chain 7 gene DOID:9003936 Cardiomegaly ISO RGD:62322 D RGD:9068941 20221027 RGD mRNA, protein:increased expression:heart (mouse) PMID:26597775|REF_RGD_ID:11554891 12218123 MYH7 myosin heavy chain 7 gene DOID:9004470 Craniosynostosis 4 ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniosynostosis 4 PMID:25741868|PMID:28492532|PMID:29892087|PMID:31737537 12218123 MYH7 myosin heavy chain 7 gene DOID:9004493 Camptocormia ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Bent Spine Syndrome PMID:12707239|PMID:23861362|PMID:24033266|PMID:24793961|PMID:25467552|PMID:25741868|PMID:25961035|PMID:26627873|PMID:26969127|PMID:27247418|PMID:27532257|PMID:28492532|PMID:29300372|PMID:31918855|PMID:32894683|PMID:33673806|PMID:34542152 12218123 MYH7 myosin heavy chain 7 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Increased left ventricular wall thickness | ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:10900182|PMID:15322983|PMID:16754800|PMID:17372140|PMID:17947214|PMID:19808347|PMID:19864899|PMID:20031602|PMID:20624503|PMID:20733148|PMID:20800588|PMID:2136805|PMID:21499742|PMID:21511876|PMID:22763267|PMID:22918376|PMID:22958901|PMID:23281406|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23426552|PMID:23707328|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24119082|PMID:24503780|PMID:25125180|PMID:25163546|PMID:25351510|PMID:25524337|PMID:25666907|PMID:25741868|PMID:26332594|PMID:26743238|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28807990|PMID:28971120|PMID:29300372|PMID:29915098|PMID:30775854|PMID:31006259|PMID:3203908|PMID:7883988|PMID:7909436|PMID:8614836|PMID:8981935|PMID:9884344 12218123 MYH7 myosin heavy chain 7 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12218123 MYH7 myosin heavy chain 7 gene DOID:9005141 Ventricular Tachycardia ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532 12218123 MYH7 myosin heavy chain 7 gene DOID:9005930 Endotoxemia ISO RGD:62030 D RGD:9068941 20200609 RGD PMID:7874842|REF_RGD_ID:12792976 12218123 MYH7 myosin heavy chain 7 gene DOID:9007820 Sudden Death ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:15358028|PMID:15856146|PMID:16335287|PMID:19808356|PMID:19913502|PMID:20800588|PMID:22857948|PMID:23074333|PMID:23283745|PMID:23396983|PMID:23782526|PMID:23861362|PMID:24047955|PMID:25351510|PMID:25741868|PMID:26688388|PMID:27247418|PMID:27532257|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28687478|PMID:29300372|PMID:30165862|PMID:31199839 12218123 MYH7 myosin heavy chain 7 gene DOID:9007925 Sudden Cardiac Death ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868 12218123 MYH7 myosin heavy chain 7 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:736718 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:18414213|PMID:20474083|PMID:23233322|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29300372 12218123 MYH7 myosin heavy chain 7 gene DOID:9775 diastolic heart failure ISO RGD:736718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12218123 MYH7 myosin heavy chain 7 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:737147 D RGD:9068941 20200609 RGD PMID:27789736|REF_RGD_ID:12798513 12218156 GUSB glucuronidase beta gene DOID:0060041 autism spectrum disorder ISO RGD:737258 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12218156 GUSB glucuronidase beta gene DOID:10283 prostate cancer ISO RGD:737258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12218156 GUSB glucuronidase beta gene DOID:1059 intellectual disability ISO RGD:737258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:19224584|PMID:21504867|PMID:23777470|PMID:25741868|PMID:28492532|PMID:7573038|PMID:9490302 12218156 GUSB glucuronidase beta gene DOID:12798 mucopolysaccharidosis disease_progression ISO RGD:2772 D RGD:9068941 20210312 RGD protein:decreases activity:spleen, kidney, lung (rat) PMID:2879381|REF_RGD_ID:42724461 12218156 GUSB glucuronidase beta gene DOID:12800 mucopolysaccharidosis VI ISO RGD:737258 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Maroteaux Lamy syndrome PMID:12403825|PMID:12859417|PMID:19224584|PMID:25741868|PMID:26908836|PMID:28124119|PMID:28492532|PMID:28884947|PMID:29698805|PMID:30413728|PMID:30838730|PMID:7573038|PMID:8089138|PMID:8644704|PMID:9490302|PMID:9921904 12218156 GUSB glucuronidase beta gene DOID:12803 Sly syndrome IAGP D RGD:12801476 20230111 OMIA Mucopolysaccharidosis VII PMID:2158095|PMID:2515056|PMID:1905109|PMID:1632054|PMID:6436780|PMID:9521879|PMID:9736382|PMID:9987917|PMID:10871735|PMID:12232044|PMID:15289379|PMID:15110316|PMID:14989549|PMID:16275036|PMID:20044292|PMID:19918911|PMID:18707908|PMID:17882020|PMID:20930106|PMID:11829521|PMID:22510705|PMID:22513347|PMID:22815736|PMID:23121383|PMID:23628461|PMID:2164946|PMID:23860311|PMID:23856419|PMID:24069350|PMID:24343103|PMID:24607662|PMID:26447927|PMID:26422116|PMID:32189222|PMID:32219101|PMID:8006122|PMID:8907377|PMID:33719080|PMID:34154922|PMID:31442675|PMID:30653816|PMID:36570425 12218156 GUSB glucuronidase beta gene DOID:12803 Sly syndrome ISO RGD:737258 D RGD:7240710 20180130 OMIM 12218156 GUSB glucuronidase beta gene DOID:12803 Sly syndrome ISO RGD:737258 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MPS VII | ClinVar Annotator: match by term: Mucopolysaccharidosis type VII | ClinVar Annotator: match by term: Sly syndrome PMID:11226217|PMID:12403825|PMID:12522561|PMID:12859417|PMID:144057|PMID:14711113|PMID:16199547|PMID:1702266|PMID:17576681|PMID:1779626|PMID:1833732|PMID:19224584|PMID:1992472|PMID:2115490|PMID:21504867|PMID:23777470|PMID:24033266|PMID:24260279|PMID:25741868|PMID:26036949|PMID:26415878|PMID:26908836|PMID:28124119|PMID:28492532|PMID:28595941|PMID:28884947|PMID:29620724|PMID:29698805|PMID:30410095|PMID:30413728|PMID:30442200|PMID:30653816|PMID:30838730|PMID:31130284|PMID:31497474|PMID:33686258|PMID:6811712|PMID:7573038|PMID:7633414|PMID:7633417|PMID:7680524|PMID:8089138|PMID:8111412|PMID:8111413|PMID:8644704|PMID:8707294|PMID:9099834|PMID:9224584|PMID:9490302|PMID:9536098|PMID:9921904 12218156 GUSB glucuronidase beta gene DOID:14755 argininosuccinic aciduria ISO RGD:737258 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Argininosuccinic Aciduria PMID:19224584|PMID:28492532 12218156 GUSB glucuronidase beta gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:737258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12218156 GUSB glucuronidase beta gene DOID:576 proteinuria ISO RGD:737258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2880436 12218156 GUSB glucuronidase beta gene DOID:630 genetic disease ISO RGD:737258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12218156 GUSB glucuronidase beta gene DOID:8283 peritonitis ISO RGD:2772 D RGD:9068941 20210305 RGD protein:altered expression:peritoneal cells (rat) PMID:185091|REF_RGD_ID:42722008 12218156 GUSB glucuronidase beta gene DOID:863 nervous system disease ISO RGD:737258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7073948|PMID:7107415 12218156 GUSB glucuronidase beta gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2772 D RGD:9068941 20210312 RGD PMID:827200|REF_RGD_ID:42724460 12218156 GUSB glucuronidase beta gene DOID:9008386 Hydrops Fetalis ISO RGD:737258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:1702266|PMID:1779626|PMID:19224584|PMID:25741868|PMID:26036949|PMID:28492532|PMID:29620724|PMID:31130284|PMID:31497474|PMID:7573038|PMID:7680524|PMID:8644704|PMID:9099834 12218156 GUSB glucuronidase beta gene DOID:9008821 Otitis Media with Effusion ISO RGD:8837974 D RGD:9068941 20200609 RGD PMID:2837976|REF_RGD_ID:11557999 12218183 TBX2 T-box transcription factor 2 gene DOID:0050777 Joubert syndrome ISO RGD:1322243 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12218183 TBX2 T-box transcription factor 2 gene DOID:0070073 autosomal dominant intellectual developmental disorder 43 ISO RGD:1322243 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 43 PMID:25741868 12218183 TBX2 T-box transcription factor 2 gene DOID:0070345 vertebral anomalies and variable endocrine and T-cell dysfunction ISO RGD:1322243 D RGD:7240710 20190626 OMIM 12218183 TBX2 T-box transcription factor 2 gene DOID:0070345 vertebral anomalies and variable endocrine and T-cell dysfunction ISO RGD:1322243 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Vertebral anomalies and variable endocrine and T-cell dysfunction PMID:25741868|PMID:28492532|PMID:29726930 12218183 TBX2 T-box transcription factor 2 gene DOID:10907 microcephaly ISO RGD:1322243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12218183 TBX2 T-box transcription factor 2 gene DOID:11372 megacolon ISO RGD:1322243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12218183 TBX2 T-box transcription factor 2 gene DOID:3393 coronary artery disease ISO RGD:1322243 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35590109 12218183 TBX2 T-box transcription factor 2 gene DOID:630 genetic disease ISO RGD:1322243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29726930 12218183 TBX2 T-box transcription factor 2 gene DOID:769 neuroblastoma ISO RGD:1322243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30127528 12218201 NECTIN3 nectin cell adhesion molecule 3 gene DOID:630 genetic disease ISO RGD:1319897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218201 NECTIN3 nectin cell adhesion molecule 3 gene DOID:83 cataract ISO RGD:1319897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract 12218201 NECTIN3 nectin cell adhesion molecule 3 gene DOID:9002321 Teratozoospermia ISO RGD:1319897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28689229 12218214 APOBEC3Z3 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3Z3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1604731 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12218214 APOBEC3Z3 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3Z3 gene DOID:630 genetic disease ISO RGD:1604731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218214 APOBEC3Z3 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3Z3 gene DOID:9006623 Murine Acquired Immunodeficiency Syndrome disease_progression ISO RGD:1317203 D RGD:9068941 20201211 RGD associated with Arterivirus Infections PMID:23725696|REF_RGD_ID:40902617 12218226 EHBP1 EH domain binding protein 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12218226 EHBP1 EH domain binding protein 1 gene DOID:2661 myoepithelioma ISO RGD:1346487 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12218226 EHBP1 EH domain binding protein 1 gene DOID:630 genetic disease ISO RGD:1346487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218226 EHBP1 EH domain binding protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23593118 12218226 EHBP1 EH domain binding protein 1 gene DOID:9007256 Prostate Cancer, Hereditary, 12 ISO RGD:1346487 D RGD:7240710 20180130 OMIM 12218226 EHBP1 EH domain binding protein 1 gene DOID:9007256 Prostate Cancer, Hereditary, 12 ISO RGD:1346487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 12 PMID:18264098 12218270 BAK1 BCL2 antagonist/killer 1 gene DOID:0050553 JMP syndrome ISO RGD:1353034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12218270 BAK1 BCL2 antagonist/killer 1 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1353034 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 12218270 BAK1 BCL2 antagonist/killer 1 gene DOID:10652 Alzheimer's disease ISO RGD:1353034 D RGD:9068941 20200609 RGD protein:increased expression:temporal cortex, membrane PMID:9507158|REF_RGD_ID:10053642 12218270 BAK1 BCL2 antagonist/killer 1 gene DOID:127 leiomyoma ISO RGD:1353034 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell;protein:decreased expression:myometrium PMID:16962107|REF_RGD_ID:1643479 12218270 BAK1 BCL2 antagonist/killer 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1353034 D RGD:9068941 20200609 RGD DNA:mutation:exon:c.342C>T(human) PMID:19898928|REF_RGD_ID:14394817 12218270 BAK1 BCL2 antagonist/killer 1 gene DOID:2893 cervix carcinoma ISO RGD:1353034 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:multiple (human) PMID:12771926|REF_RGD_ID:2315701 12218270 BAK1 BCL2 antagonist/killer 1 gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:1552456 D RGD:9068941 20200609 RGD PMID:20890041|REF_RGD_ID:13506803 12218270 BAK1 BCL2 antagonist/killer 1 gene DOID:3669 intermittent claudication ISO RGD:621635 D RGD:9068941 20200609 RGD PMID:23658678|REF_RGD_ID:9586024 12218270 BAK1 BCL2 antagonist/killer 1 gene DOID:4450 renal cell carcinoma severity ISO RGD:1353034 D RGD:9068941 20200609 RGD PMID:9894249|REF_RGD_ID:2315703 12218270 BAK1 BCL2 antagonist/killer 1 gene DOID:5844 myocardial infarction ISO RGD:1353034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29122578 12218270 BAK1 BCL2 antagonist/killer 1 gene DOID:630 genetic disease ISO RGD:1353034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218270 BAK1 BCL2 antagonist/killer 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621635 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11232245|REF_RGD_ID:2315709 12218270 BAK1 BCL2 antagonist/killer 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1353034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 12218270 BAK1 BCL2 antagonist/killer 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1353034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18349538 12218270 BAK1 BCL2 antagonist/killer 1 gene DOID:9002955 Nerve Degeneration ISO RGD:1353034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19740541 12218270 BAK1 BCL2 antagonist/killer 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:621635 D RGD:9068941 20200609 RGD PMID:18993028|REF_RGD_ID:2316133 12218270 BAK1 BCL2 antagonist/killer 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1552456 D RGD:9068941 20200609 RGD PMID:19222350|REF_RGD_ID:2315700 12218293 DLK2 delta like non-canonical Notch ligand 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1319320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12218293 DLK2 delta like non-canonical Notch ligand 2 gene DOID:630 genetic disease ISO RGD:1319320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218293 DLK2 delta like non-canonical Notch ligand 2 gene DOID:905 Zellweger syndrome ISO RGD:1319320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12218306 FERD3L Fer3 like bHLH transcription factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12218306 FERD3L Fer3 like bHLH transcription factor gene DOID:630 genetic disease ISO RGD:1323462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218309 ZNF692 zinc finger protein 692 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1604343 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12218309 ZNF692 zinc finger protein 692 gene DOID:630 genetic disease ISO RGD:1604343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218309 ZNF692 zinc finger protein 692 gene DOID:9002189 High Myopia ISO RGD:1604343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12218325 CBLL1 Cbl proto-oncogene like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12218325 CBLL1 Cbl proto-oncogene like 1 gene DOID:630 genetic disease ISO RGD:1321764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218343 GADD45G growth arrest and DNA damage inducible gamma gene DOID:4783 mesangial proliferative glomerulonephritis ISO RGD:1311796 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney PMID:16736195|REF_RGD_ID:14700866 12218343 GADD45G growth arrest and DNA damage inducible gamma gene DOID:630 genetic disease ISO RGD:1323436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218351 LRRN1 leucine rich repeat neuronal 1 gene DOID:10534 stomach cancer severity ISO RGD:1345511 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 12218351 LRRN1 leucine rich repeat neuronal 1 gene DOID:630 genetic disease ISO RGD:1345511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218351 LRRN1 leucine rich repeat neuronal 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12218363 SCARA3 scavenger receptor class A member 3 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1319520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12218363 SCARA3 scavenger receptor class A member 3 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1319520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12218363 SCARA3 scavenger receptor class A member 3 gene DOID:630 genetic disease ISO RGD:1319520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218375 CCAR2 cell cycle and apoptosis regulator 2 gene DOID:630 genetic disease ISO RGD:1605357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218375 CCAR2 cell cycle and apoptosis regulator 2 gene DOID:9002498 Wallerian Degeneration ISO RGD:1605357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24252177 12218375 CCAR2 cell cycle and apoptosis regulator 2 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1605357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12218411 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:0050572 cone-rod dystrophy ISO RGD:1351565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:32679203 12218411 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:0050633 ocular albinism ISO RGD:1351565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ocular albinism PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:32679203 12218411 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:0090059 enhanced S-cone syndrome ISO RGD:1351565 D RGD:7240710 20180130 OMIM 12218411 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:0090059 enhanced S-cone syndrome ISO RGD:1351565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enhanced S-cone syndrome | ClinVar Annotator: match by term: Goldmann-Favre syndrome | ClinVar Annotator: match by term: NR2E3-Related Disorders PMID:10655056|PMID:11071390|PMID:11773633|PMID:12963616|PMID:15459973|PMID:15689355|PMID:16024868|PMID:16199547|PMID:16225923|PMID:17438525|PMID:17564971|PMID:17576681|PMID:17601449|PMID:18294254|PMID:18436841|PMID:18835469|PMID:19006237|PMID:19139342|PMID:19273793|PMID:19718767|PMID:19823680|PMID:19898638|PMID:19933183|PMID:21217109|PMID:21364904|PMID:22711506|PMID:23105016|PMID:23374571|PMID:23591405|PMID:23604511|PMID:23989059|PMID:24033266|PMID:24069298|PMID:24265693|PMID:24339724|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25356976|PMID:25703721|PMID:25741868|PMID:25999674|PMID:26229699|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27013732|PMID:27032803|PMID:27522502|PMID:27573156|PMID:27874104|PMID:28041643|PMID:28224992|PMID:28300834|PMID:28418496|PMID:28492532|PMID:28541266|PMID:28559085|PMID:28771251|PMID:28944237|PMID:29193891|PMID:29343940|PMID:29431110|PMID:29785639|PMID:30054919|PMID:30285900|PMID:30324420|PMID:30543658|PMID:30718709|PMID:31054281|PMID:31370859|PMID:32037395|PMID:32679203|PMID:33781268|PMID:9536098 12218411 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:0110399 retinitis pigmentosa 37 ISO RGD:1351565 D RGD:7240710 20180130 OMIM 12218411 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:0110399 retinitis pigmentosa 37 ISO RGD:1351565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 37 PMID:10655056|PMID:11071390|PMID:11773633|PMID:12963616|PMID:15459973|PMID:15689355|PMID:16024868|PMID:16199547|PMID:16225923|PMID:17438525|PMID:17564971|PMID:17601449|PMID:17982421|PMID:18294254|PMID:18436841|PMID:18835469|PMID:19006237|PMID:19139342|PMID:19273793|PMID:19718767|PMID:19823680|PMID:19898638|PMID:19933183|PMID:21217109|PMID:23039133|PMID:23105016|PMID:23374571|PMID:23591405|PMID:23989059|PMID:24033266|PMID:24069298|PMID:24265693|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25326637|PMID:25703721|PMID:25741868|PMID:26355662|PMID:26894784|PMID:26910043|PMID:27522502|PMID:27573156|PMID:27874104|PMID:28041643|PMID:28224992|PMID:28300834|PMID:28492532|PMID:28559085|PMID:28771251|PMID:28944237|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30054919|PMID:30324420|PMID:30543658|PMID:30718709|PMID:32679203|PMID:33781268 12218411 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1351565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10655056|PMID:11071390|PMID:11773633|PMID:12963616|PMID:15453866|PMID:15459973|PMID:15689355|PMID:16024868|PMID:16199547|PMID:16225923|PMID:17438525|PMID:17564971|PMID:17982421|PMID:18294254|PMID:18436841|PMID:18835469|PMID:19006237|PMID:19139342|PMID:19273793|PMID:19718767|PMID:19823680|PMID:19898638|PMID:19933183|PMID:21217109|PMID:21364904|PMID:22711506|PMID:23039133|PMID:23105016|PMID:23374571|PMID:23591405|PMID:23989059|PMID:24033266|PMID:24069298|PMID:24339724|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25326637|PMID:25703721|PMID:25741868|PMID:26355662|PMID:26894784|PMID:26910043|PMID:27032803|PMID:27522502|PMID:27573156|PMID:27874104|PMID:28041643|PMID:28224992|PMID:28300834|PMID:28492532|PMID:28541266|PMID:28559085|PMID:28771251|PMID:28944237|PMID:28981474|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30054919|PMID:30324420|PMID:30718709|PMID:31054281 12218411 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1351565 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10655056|PMID:11071390|PMID:11773633|PMID:12963616|PMID:15459973|PMID:15689355|PMID:16024868|PMID:16199547|PMID:16225923|PMID:17438525|PMID:17564971|PMID:17576681|PMID:17982421|PMID:18294254|PMID:18436841|PMID:18835469|PMID:19006237|PMID:19139342|PMID:19273793|PMID:19718767|PMID:19823680|PMID:19898638|PMID:19933183|PMID:21217109|PMID:21364904|PMID:22711506|PMID:23105016|PMID:23374571|PMID:23591405|PMID:23989059|PMID:24033266|PMID:24069298|PMID:24339724|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25326637|PMID:25703721|PMID:25741868|PMID:26355662|PMID:26894784|PMID:26910043|PMID:27032803|PMID:27522502|PMID:27573156|PMID:27874104|PMID:28041643|PMID:28224992|PMID:28300834|PMID:28492532|PMID:28541266|PMID:28559085|PMID:28771251|PMID:28944237|PMID:28981474|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30054919|PMID:30324420|PMID:30718709|PMID:32037395|PMID:32679203|PMID:32901917|PMID:9536098 12218411 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:14791 Leber congenital amaurosis ISO RGD:1351565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:10655056|PMID:19898638|PMID:24069298|PMID:24891813|PMID:25703721|PMID:28300834|PMID:28492532 12218411 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:2717 Bloom syndrome ISO RGD:1351565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12218411 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:3320 Tay-Sachs disease ISO RGD:1351565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 12218411 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:630 genetic disease ISO RGD:1351565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:32679203 12218411 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:8501 fundus dystrophy ISO RGD:1351565 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10655056|PMID:11071390|PMID:11773633|PMID:12963616|PMID:15459973|PMID:15689355|PMID:16024868|PMID:16199547|PMID:16225923|PMID:17438525|PMID:17564971|PMID:17982421|PMID:18294254|PMID:18436841|PMID:18835469|PMID:19006237|PMID:19139342|PMID:19273793|PMID:19718767|PMID:19823680|PMID:19898638|PMID:21217109|PMID:21364904|PMID:22711506|PMID:23374571|PMID:23591405|PMID:23989059|PMID:24033266|PMID:24069298|PMID:24339724|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25326637|PMID:25356976|PMID:25703721|PMID:25741868|PMID:25999674|PMID:26229699|PMID:26355662|PMID:26894784|PMID:26910043|PMID:27013732|PMID:27032803|PMID:27522502|PMID:27573156|PMID:27874104|PMID:28041643|PMID:28224992|PMID:28300834|PMID:28418496|PMID:28492532|PMID:28541266|PMID:28559085|PMID:28771251|PMID:28944237|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30054919|PMID:30324420|PMID:30543658|PMID:30718709|PMID:32037395|PMID:32581362|PMID:32679203|PMID:32901917 12218411 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:9000343 Vision Disorders ISO RGD:1351565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:32679203 12218411 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:9008296 Eye Abnormalities ISO RGD:1351565 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25079116|PMID:26894784|PMID:28041643|PMID:28492532|PMID:28559085|PMID:32581362|PMID:32679203 12218411 NR2E3 nuclear receptor subfamily 2 group E member 3 gene DOID:9256 colorectal cancer ISO RGD:1351565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 | ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA PMID:15016963|PMID:15254419|PMID:15520168|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:18074223|PMID:18676830|PMID:18725974|PMID:18829572|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20581867|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22228622|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729222|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23246288|PMID:23946963|PMID:24033266|PMID:24459181|PMID:24497998|PMID:24559322|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25599672|PMID:25741868|PMID:25915946|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26851524|PMID:27283355|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:28941273|PMID:29549527|PMID:30063105|PMID:30231930|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32595695|PMID:32778138|PMID:33077954|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21173233 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0050902 medulloblastoma ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0050902 medulloblastoma ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27626068|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0050902 medulloblastoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0050902 medulloblastoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532|PMID:31568861 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0060075 estrogen-receptor positive breast cancer treatment ISO RGD:1352691 D RGD:9068941 20200609 RGD DNA:mutations:plasma: PMID:28881720|REF_RGD_ID:14402408 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0060586 Noonan syndrome 8 ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:25741868|PMID:26619011|PMID:27631024 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple hamartoma syndrome PMID:15930273|PMID:17376864|PMID:18829572|PMID:19366826|PMID:21824802|PMID:22120714|PMID:22228622|PMID:22729224|PMID:22949682|PMID:24033266|PMID:24497998|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26351730|PMID:26619011|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:28941273|PMID:30231930|PMID:31568861|PMID:32595695|PMID:33077954 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1352691 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Multiple hamartoma syndrome PMID:15930273|PMID:19366826|PMID:21824802|PMID:22228622|PMID:22729224|PMID:24033266|PMID:24497998|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26351730|PMID:26619011|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:28941273|PMID:30231930|PMID:31568861|PMID:32595695|PMID:33077954 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1352691 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Multiple hamartoma syndrome PMID:15930273|PMID:19366826|PMID:21824802|PMID:22228622|PMID:22729224|PMID:24033266|PMID:24497998|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26351730|PMID:26619011|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:28941273|PMID:30063105|PMID:30231930|PMID:31568861|PMID:32595695|PMID:33077954 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:15016963|PMID:15254419|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:18074223|PMID:18676830|PMID:18725974|PMID:18829572|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20581867|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22228622|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23246288|PMID:24033266|PMID:24497998|PMID:24559322|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25599672|PMID:25741868|PMID:25915946|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26851524|PMID:27283355|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:28941273|PMID:30063105|PMID:30231930|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32595695|PMID:32778138|PMID:33077954|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:15016963|PMID:15254419|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:18074223|PMID:18676830|PMID:18725974|PMID:18829572|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20581867|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22228622|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23246288|PMID:24033266|PMID:24459181|PMID:24497998|PMID:24559322|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25599672|PMID:25741868|PMID:25915946|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26851524|PMID:27283355|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:28941273|PMID:29549527|PMID:30063105|PMID:30231930|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32595695|PMID:32778138|PMID:33077954|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080199 colorectal carcinoma severity ISO RGD:1352691 D RGD:9068941 20200609 RGD DNA:mutations:exons: PMID:17546593|REF_RGD_ID:14402406 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:15930273|PMID:17376864|PMID:19366826|PMID:22120714|PMID:22658544|PMID:23946963|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27631024|PMID:28151489|PMID:28492532|PMID:34008892 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080322 polycystic kidney disease ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:25741868 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080351 CLOVES syndrome ISO RGD:1352691 D RGD:7240710 20180130 OMIM 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080351 CLOVES syndrome ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CLOVE SYNDROME | ClinVar Annotator: match by term: CLOVES syndrome | ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES | ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0081001 Cowden syndrome 5 ISO RGD:1352691 D RGD:7240710 20180130 OMIM 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0081001 Cowden syndrome 5 ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cowden syndrome 5 PMID:17376864|PMID:19366826|PMID:21824802|PMID:22228622|PMID:22729222|PMID:22729224|PMID:22949682|PMID:23246288|PMID:24033266|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:30197175|PMID:30231930|PMID:31568861|PMID:32595695|PMID:33077954 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0081284 rosette-forming glioneuronal tumor ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22729223 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:620916 D RGD:9068941 20200609 RGD protein:increased expression:cholangiocyte PMID:24498161|REF_RGD_ID:10040950 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0111162 epidermal nevus ISO RGD:1352691 D RGD:7240710 20180130 OMIM 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0111162 epidermal nevus ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermal nevus | ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC PMID:15016963|PMID:15254419|PMID:15520168|PMID:15647370|PMID:15805248|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19366826|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22729224|PMID:24033266|PMID:24265155|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0111529 familial multiple nevi flammei ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Capillary malformations, congenital PMID:22658544|PMID:23946963|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:34008892 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0111546 Currarino syndrome ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:10283 prostate cancer ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer PMID:15016963|PMID:15254419|PMID:15520168|PMID:15647370|PMID:15805248|PMID:18676830|PMID:18725974|PMID:19366826|PMID:19903786|PMID:20453058|PMID:20619739|PMID:22162582|PMID:22162589|PMID:22271473|PMID:25157968|PMID:25741868|PMID:26619011 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:10480 diaphragmatic eventration ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diaphragmatic eventration PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532|PMID:31568861 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:10534 stomach cancer ISO RGD:1352691 D RGD:7240710 20220209 OMIM 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:10534 stomach cancer ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:10534 stomach cancer disease_progression ISO RGD:1352691 D RGD:9068941 20201112 RGD Epstein-Barr Virus negative patient PMID:26980034|REF_RGD_ID:40818111 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:10534 stomach cancer disease_progression ISO RGD:1352691 D RGD:9068941 20201112 RGD associated with Epstein-Barr Virus Infections; DNA,protein:mutations:exon: PMID:30952761|REF_RGD_ID:40818110 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:10534 stomach cancer disease_progression ISO RGD:1352691 D RGD:9068941 20210430 RGD protein:increased expression:stomach (human) PMID:30747208|REF_RGD_ID:126790641 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1107 esophageal carcinoma ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1107 esophageal carcinoma ISO RGD:1352691 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1107 esophageal carcinoma ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1107 esophageal carcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1115 sarcoma ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23888070|PMID:23946963|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:11934 head and neck cancer ISO RGD:1352691 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Head and neck neoplasm PMID:15016963|PMID:15254419|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21430269|PMID:22162582|PMID:22162589|PMID:23408298|PMID:25157968|PMID:26619011 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1324 lung cancer ISO RGD:1352691 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:19366826|PMID:25157968|PMID:25741868|PMID:26619011 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:14250 Down syndrome ISO RGD:1352691 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Down syndrome PMID:25741868 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:14566 disease of cellular proliferation ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neoplasms PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1520 colon carcinoma ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1520 colon carcinoma ISO RGD:1352691 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1520 colon carcinoma ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1520 colon carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1520 colon carcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1612 breast cancer ISO RGD:1352691 D RGD:7240710 20180711 OMIM 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1612 breast cancer ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1612 breast cancer ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1749 squamous cell carcinoma ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24224046 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1909 melanoma ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1909 melanoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1909 melanoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1984 rectal benign neoplasm susceptibility ISO RGD:1352691 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs7651265) (human) PMID:20622004|REF_RGD_ID:5685669 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:234 colon adenocarcinoma ISO RGD:1352691 D RGD:9068941 20200609 RGD DNA:mutation PMID:17575153|REF_RGD_ID:5685670 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:2394 ovarian cancer ISO RGD:1352691 D RGD:7240710 20190213 OMIM 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:2513 basal cell carcinoma ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:2526 prostate adenocarcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate | ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:2671 transitional cell carcinoma ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:2752 glycogen storage disease II ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:15016963|PMID:21266528|PMID:23334666 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:2871 endometrial carcinoma ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:2926 Klippel-Trenaunay syndrome ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Angio-osteohypertrophy syndrome PMID:18829572|PMID:22228622|PMID:22729224|PMID:22949682|PMID:23246288|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:30231930|PMID:32595695|PMID:33077954 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:299 adenocarcinoma ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3068 glioblastoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3070 high grade glioma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3070 high grade glioma ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3121 gallbladder cancer ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Gallbladder cancer PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23888070|PMID:23946963|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3149 keratoacanthoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Keratoacanthoma PMID:22949682|PMID:23246288|PMID:25741868|PMID:26619011|PMID:27283355|PMID:28151489|PMID:28492532 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3450 cutaneous Paget's disease severity ISO RGD:1352691 D RGD:9068941 20200609 RGD DNA:mutations:multiple: PMID:22522847|REF_RGD_ID:14402410 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3458 breast adenocarcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast adenocarcinoma, somatic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3459 breast carcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carcinoma of breast PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3571 liver cancer susceptibility ISO RGD:1551142 D RGD:9068941 20200609 RGD PMID:20583210|REF_RGD_ID:14402407 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:363 uterine cancer ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3717 gastric adenocarcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3905 lung carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15647370|PMID:15805248|PMID:17376864|PMID:18676830|PMID:18725974|PMID:19366826|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22729224|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3907 lung squamous cell carcinoma ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer | ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3910 lung adenocarcinoma ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3948 adrenocortical carcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma | ClinVar Annotator: match by term: Adrenocortical carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:4450 renal cell carcinoma ISO RGD:1352691 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:4450 renal cell carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:4450 renal cell carcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:4465 papillary renal cell carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26851524|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:4511 breast angiosarcoma ISO RGD:1352691 D RGD:9068941 20220310 RGD DNA:mutation:multiple (human) PMID:32123305|REF_RGD_ID:151665102 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:4914 esophagus adenocarcinoma ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:4948 gallbladder carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of gallbladder PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:32778138 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:5041 esophageal cancer ISO RGD:1352691 D RGD:9068941 20220630 RGD protein:increased expression:esophagus (human) PMID:27188433|REF_RGD_ID:152995510 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:5409 lung small cell carcinoma ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26851524|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:5409 lung small cell carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26851524|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:5411 lung oat cell carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung oat cell carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26851524|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352691 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:6171 uterine carcinosarcoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:630 genetic disease ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15930273|PMID:17376864|PMID:20952405|PMID:22209294|PMID:22729224|PMID:24265155|PMID:24497998|PMID:25741868|PMID:26351730|PMID:26619011|PMID:27631024|PMID:28492532|PMID:28941273|PMID:29549527 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:6457 Cowden syndrome ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cowden disease | ClinVar Annotator: match by term: Cowden syndrome | ClinVar Annotator: match by term: Cowden's syndrome PMID:15016963|PMID:15254419|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16199547|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17576681|PMID:18074223|PMID:18676830|PMID:18725974|PMID:18829572|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20581867|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22228622|PMID:22271473|PMID:22357840|PMID:22430209|PMID:22658544|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23754335|PMID:24033266|PMID:24459181|PMID:24497998|PMID:24559322|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25599672|PMID:25741868|PMID:25915946|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26749308|PMID:26851524|PMID:27283355|PMID:27631024|PMID:28151489|PMID:28475857|PMID:28492532|PMID:28502725|PMID:28941273|PMID:29549527|PMID:30063105|PMID:30231930|PMID:31536475|PMID:31568861|PMID:31775759|PMID:31780696|PMID:32595695|PMID:32778138|PMID:33077954|PMID:34402524|PMID:34496175|PMID:9536098 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:6498 seborrheic keratosis ISO RGD:1352691 D RGD:7240710 20180130 OMIM 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:6498 seborrheic keratosis ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keratosis Seborrheica | ClinVar Annotator: match by term: Seborrheic keratosis PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:6536 plasma cell neoplasm ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:17376864|PMID:18074223|PMID:20581867|PMID:25741868|PMID:26619011|PMID:28492532 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1352691 D RGD:7240710 20180130 OMIM 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:684 hepatocellular carcinoma no_association ISO RGD:1352691 D RGD:9068941 20200609 RGD DNA:mutation:exon: PMID:16331247|REF_RGD_ID:14402405 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:684 hepatocellular carcinoma severity ISO RGD:1352691 D RGD:9068941 20200609 RGD DNA:mutations:exons: PMID:24673525|REF_RGD_ID:14402404 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1352691 D RGD:9068941 20200609 RGD DNA:SNPs: :rs17849071,rs17849079(human) PMID:26823876|REF_RGD_ID:11556371 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:684 hepatocellular carcinoma treatment ISO RGD:620916 D RGD:9068941 20220520 RGD PMID:25999787|REF_RGD_ID:152177911 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:769 neuroblastoma ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:17376864|PMID:18074223|PMID:20581867|PMID:25741868|PMID:26619011|PMID:28492532 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:8923 skin melanoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:8923 skin melanoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9000081 Lymphatic Metastasis ISO RGD:1352691 D RGD:9068941 20200609 RGD associated with Colorectal Neoplasms PMID:25550888|REF_RGD_ID:13432030 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9000217 Stomach Neoplasms ISO RGD:1352691 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Stomach Neoplasms PMID:17376864|PMID:21824802|PMID:22729224|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9000918 Disease Progression ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29106415 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29106415 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1352691 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutations:: PMID:23302486|REF_RGD_ID:14402409 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:19366826|PMID:22228622|PMID:22729224|PMID:22949682|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26619011|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:28941273|PMID:30231930|PMID:32595695|PMID:33077954 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9001282 Cerebral Cavernous Malformation 4 ISO RGD:1352691 D RGD:7240710 20220629 OMIM 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31025080 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868|PMID:28492532 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9002221 Hyperplasia ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22729222 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9002221 Hyperplasia ISO RGD:1551142 D RGD:9068941 20200609 RGD PMID:22214849|REF_RGD_ID:13207413 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:29610475 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9002403 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22729224 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9002647 Megalencephaly - Cutis Marmorata Telangiectatica Congenita ISO RGD:1352691 D RGD:7240710 20180130 OMIM 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9002647 Megalencephaly - Cutis Marmorata Telangiectatica Congenita ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION | ClinVar Annotator: match by term: Macrocephaly cutis marmorata telangiectatica congenita | ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome | ClinVar Annotator: match by term: PIK3CA related overgrowth spectrum PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:18829572|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21266528|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22228622|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24459181|PMID:24497998|PMID:24782230|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26749308|PMID:26822237|PMID:27126994|PMID:27191687|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28191889|PMID:28425981|PMID:28492532|PMID:28502725|PMID:28941273|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30231930|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32595695|PMID:32733937|PMID:32778138|PMID:33077954|PMID:34008892|PMID:34170046|PMID:34402524|PMID:34496175|PMID:34733958 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22228622|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28502725|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30231930|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32595695|PMID:33077954|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9002762 Ovarian Neoplasms ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:18829572|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:33077954|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9003133 Hypertelorism ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532|PMID:31568861 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9003191 Vascular Malformations ISO RGD:1551142 D RGD:9068941 20200609 RGD DNA:missense mutation:exon 20:p.H1047R (mouse) PMID:25958091|REF_RGD_ID:13207411 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9003196 Penile Neoplasms ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18355852 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9003571 Paraproteinemias ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:17376864|PMID:18074223|PMID:20581867|PMID:25741868|PMID:26619011|PMID:28492532 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9003816 Macrocephaly ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megalencephaly, autosomal dominant PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532|PMID:31568861 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9004547 Thyroid Neoplasms ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:15930273|PMID:17376864|PMID:22120714|PMID:22949682|PMID:23246288|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27283355|PMID:28151489|PMID:28492532 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9004657 Weight Gain ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9005172 Lung Neoplasms ISO RGD:1352691 D RGD:7240710 20180130 OMIM 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nasopharyngeal Neoplasms PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:32778138 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9006085 Megalodactyly ISO RGD:1352691 D RGD:7240710 20200304 OMIM 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9006085 Megalodactyly ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Macrodactyly PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Head and Neck Neoplasms PMID:15016963|PMID:15254419|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21430269|PMID:22162582|PMID:22162589|PMID:23408298|PMID:25157968|PMID:26619011 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9006257 Growth Disorders ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22729222 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9006394 CLAPO Syndrome ISO RGD:1352691 D RGD:7240710 20200923 OMIM 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9006394 CLAPO Syndrome ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CLAPO syndrome | ClinVar Annotator: match by term: Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:1551142 D RGD:9068941 20230302 RGD PMID:36044268|REF_RGD_ID:156430337 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9007096 Stroke ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Stroke PMID:15016963|PMID:15254419|PMID:15520168|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22729222|PMID:23946963|PMID:25157968|PMID:25741868|PMID:26619011|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9007364 Mouth Neoplasms ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of floor of mouth PMID:17376864|PMID:21824802|PMID:22729224|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9007502 Brain Neoplasms ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26851524|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9008086 Developmental Disabilities ISO RGD:1352691 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9008237 Hemimegalencephaly ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Unilateral Megalencephaly PMID:25741868|PMID:28492532 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9008797 Facial Asymmetry ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Facial asymmetry PMID:25741868|PMID:28492532 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9008939 Breast Neoplasms ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9008952 Breast Cancer, Familial ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9256 colorectal cancer ISO RGD:1352691 D RGD:7240710 20200226 OMIM 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9256 colorectal cancer ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:15016963|PMID:15254419|PMID:15520168|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22729222|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9256 colorectal cancer ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:15016963|PMID:15254419|PMID:15520168|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22729222|PMID:23946963|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:34496175 12218420 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9538 multiple myeloma ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:17376864|PMID:18074223|PMID:20581867|PMID:25741868|PMID:26619011|PMID:28492532 12218445 UBTD2 ubiquitin domain containing 2 gene DOID:630 genetic disease ISO RGD:1601834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218452 MCAM melanoma cell adhesion molecule gene DOID:0060017 CD3epsilon deficiency ISO RGD:732868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12218452 MCAM melanoma cell adhesion molecule gene DOID:0060837 isolated microphthalmia 5 ISO RGD:732868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12218452 MCAM melanoma cell adhesion molecule gene DOID:0080690 RASopathy ISO RGD:732868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12218452 MCAM melanoma cell adhesion molecule gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:732868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12218452 MCAM melanoma cell adhesion molecule gene DOID:0111971 immunodeficiency 18 ISO RGD:732868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12218452 MCAM melanoma cell adhesion molecule gene DOID:0111972 immunodeficiency 19 ISO RGD:732868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12218452 MCAM melanoma cell adhesion molecule gene DOID:0111973 immunodeficiency 17 ISO RGD:732868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12218452 MCAM melanoma cell adhesion molecule gene DOID:1790 malignant mesothelioma ISO RGD:732868 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:22784439|PMID:23621518 12218452 MCAM melanoma cell adhesion molecule gene DOID:1790 malignant mesothelioma disease_progression ISO RGD:620463 D RGD:9068941 20200609 RGD PMID:23621518|REF_RGD_ID:7364782 12218452 MCAM melanoma cell adhesion molecule gene DOID:1875 impotence ISO RGD:620463 D RGD:9068941 20200609 RGD protein:decreased expression:penis erectile tissue PMID:24023647|REF_RGD_ID:7364777 12218452 MCAM melanoma cell adhesion molecule gene DOID:2377 multiple sclerosis ISO RGD:732868 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23595028 12218452 MCAM melanoma cell adhesion molecule gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732868 D RGD:9068941 20200609 RGD PMID:23649916|REF_RGD_ID:7364780 12218452 MCAM melanoma cell adhesion molecule gene DOID:438 autoimmune disease of the nervous system ISO RGD:732868 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23595028 12218452 MCAM melanoma cell adhesion molecule gene DOID:5419 schizophrenia ISO RGD:732868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12218452 MCAM melanoma cell adhesion molecule gene DOID:6039 uveal melanoma disease_progression ISO RGD:732868 D RGD:9068941 20200609 RGD PMID:19958117|REF_RGD_ID:7364775 12218452 MCAM melanoma cell adhesion molecule gene DOID:630 genetic disease ISO RGD:732868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218452 MCAM melanoma cell adhesion molecule gene DOID:9001579 Neurogenic Inflammation ISO RGD:732868 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23595028 12218452 MCAM melanoma cell adhesion molecule gene DOID:9001834 Peritoneal Neoplasms ISO RGD:732868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22784439|PMID:23621518 12218452 MCAM melanoma cell adhesion molecule gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:620463 D RGD:9068941 20200609 RGD PMID:10076889|REF_RGD_ID:7364787 12218452 MCAM melanoma cell adhesion molecule gene DOID:9002884 Emphysema ISO RGD:620463 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:23649916|REF_RGD_ID:7364780 12218452 MCAM melanoma cell adhesion molecule gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:732868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12218452 MCAM melanoma cell adhesion molecule gene DOID:9007661 Dwarfism ISO RGD:732868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12218474 RABEP1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:0111379 fetal akinesia deformation sequence syndrome 4 ISO RGD:1346664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 PMID:25741868 12218474 RABEP1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:3307 teratoma ISO RGD:1346664 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 12218474 RABEP1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:630 genetic disease ISO RGD:1346664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218494 ZFP3 ZFP3 zinc finger protein gene DOID:630 genetic disease ISO RGD:1346211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218514 KPNA7 karyopherin subunit alpha 7 gene DOID:1059 intellectual disability ISO RGD:2306472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild PMID:24088041|PMID:26633545|PMID:28492532 12218514 KPNA7 karyopherin subunit alpha 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2306472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12218514 KPNA7 karyopherin subunit alpha 7 gene DOID:630 genetic disease ISO RGD:2306472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12218514 KPNA7 karyopherin subunit alpha 7 gene DOID:9005201 Oocyte/Zygote/Embryo Maturation Arrest 17 ISO RGD:2306472 D RGD:7240710 20230505 OMIM 12218514 KPNA7 karyopherin subunit alpha 7 gene DOID:9005201 Oocyte/Zygote/Embryo Maturation Arrest 17 ISO RGD:2306472 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 17 PMID:28492532|PMID:36647821 12218529 REM2 RRAD and GEM like GTPase 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:733550 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12218529 REM2 RRAD and GEM like GTPase 2 gene DOID:630 genetic disease ISO RGD:733550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218529 REM2 RRAD and GEM like GTPase 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:733550 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12218529 REM2 RRAD and GEM like GTPase 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:733550 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12218543 NYNRIN NYN domain and retroviral integrase containing gene DOID:0060439 lysinuric protein intolerance ISO RGD:1345252 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12218543 NYNRIN NYN domain and retroviral integrase containing gene DOID:630 genetic disease ISO RGD:1345252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218543 NYNRIN NYN domain and retroviral integrase containing gene DOID:687 hepatoblastoma ISO RGD:1345252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 12218543 NYNRIN NYN domain and retroviral integrase containing gene DOID:9000265 Specific Granule Deficiency ISO RGD:1345252 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12218543 NYNRIN NYN domain and retroviral integrase containing gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1345252 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12218555 PGAP3 post-GPI attachment to proteins phospholipase 3 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1352306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 12218555 PGAP3 post-GPI attachment to proteins phospholipase 3 gene DOID:1826 epilepsy ISO RGD:1352306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:30345601 12218555 PGAP3 post-GPI attachment to proteins phospholipase 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1352306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of hemidiaphragm PMID:25741868|PMID:30345601 12218555 PGAP3 post-GPI attachment to proteins phospholipase 3 gene DOID:630 genetic disease ISO RGD:1352306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29310717|PMID:34582790|PMID:35887114 12218555 PGAP3 post-GPI attachment to proteins phospholipase 3 gene DOID:674 cleft palate ISO RGD:1352306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:25741868|PMID:30345601 12218555 PGAP3 post-GPI attachment to proteins phospholipase 3 gene DOID:9005046 Hyperphosphatasia with Impaired Intellectual Development Syndrome ISO RGD:1352306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12218555 PGAP3 post-GPI attachment to proteins phospholipase 3 gene DOID:9007958 Hyperphosphatasia with Mental Retardation Syndrome 4 ISO RGD:1352306 D RGD:7240710 20180130 OMIM 12218555 PGAP3 post-GPI attachment to proteins phospholipase 3 gene DOID:9007958 Hyperphosphatasia with Mental Retardation Syndrome 4 ISO RGD:1352306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 10 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4 PMID:16199547|PMID:17576681|PMID:22315194|PMID:2443911|PMID:24439110|PMID:25741868|PMID:27120253|PMID:28327575|PMID:28390064|PMID:28492532|PMID:29310717|PMID:29531774|PMID:29620724|PMID:30217754|PMID:30345601|PMID:32845056|PMID:32860008|PMID:34582790|PMID:35887114|PMID:9536098 12218555 PGAP3 post-GPI attachment to proteins phospholipase 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1352306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:30345601 12218565 HOXB8 homeobox B8 gene DOID:0050587 trichotillomania ISO RGD:1345658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11779477 12218565 HOXB8 homeobox B8 gene DOID:0050587 trichotillomania ISO RGD:1557995 D RGD:9068941 20220825 MouseDO OMIM:613229 12218565 HOXB8 homeobox B8 gene DOID:10933 obsessive-compulsive disorder ISO RGD:1345658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11779477 12218565 HOXB8 homeobox B8 gene DOID:630 genetic disease ISO RGD:1345658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218575 HEPH hephaestin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:734284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12218575 HEPH hephaestin gene DOID:12849 autistic disorder ISO RGD:734284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12218575 HEPH hephaestin gene DOID:1686 glaucoma ISO RGD:734284 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (human) PMID:28990066|REF_RGD_ID:155630605 12218575 HEPH hephaestin gene DOID:1790 malignant mesothelioma ISO RGD:734284 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26818092 12218575 HEPH hephaestin gene DOID:630 genetic disease ISO RGD:734284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:737311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:10205047|PMID:10364675|PMID:10567493|PMID:10761708|PMID:10900011|PMID:11106358|PMID:11114638|PMID:11257211|PMID:11409863|PMID:11739384|PMID:11987242|PMID:12000816|PMID:12114495|PMID:12393546|PMID:12414898|PMID:12415268|PMID:12702509|PMID:12844285|PMID:14604959|PMID:14722919|PMID:14726398|PMID:14767570|PMID:14973063|PMID:15300849|PMID:15574766|PMID:15642664|PMID:15932632|PMID:16210343|PMID:16884327|PMID:17024664|PMID:17102069|PMID:17264095|PMID:17992257|PMID:18446368|PMID:18836774|PMID:19030229|PMID:19228690|PMID:19270817|PMID:19304954|PMID:19408298|PMID:19464396|PMID:19494350|PMID:19574279|PMID:19602254|PMID:19906784|PMID:20120764|PMID:20447124|PMID:20660572|PMID:21362373|PMID:21454469|PMID:21463266|PMID:21606165|PMID:21685897|PMID:21876117|PMID:21993671|PMID:22234250|PMID:22393103|PMID:22799452|PMID:23015148|PMID:23403324|PMID:23434161|PMID:23512077|PMID:23842656|PMID:23990664|PMID:23990666|PMID:24033266|PMID:24206762|PMID:24301059|PMID:24466223|PMID:24707167|PMID:24728327|PMID:25119015|PMID:25157968|PMID:25371412|PMID:25563310|PMID:25637381|PMID:25720320|PMID:25741868|PMID:25867206|PMID:26822237|PMID:27034144|PMID:27057652|PMID:27146957|PMID:27527340|PMID:27539324|PMID:27617348|PMID:28492532|PMID:28503092|PMID:28944243|PMID:29595810|PMID:29616089|PMID:29790589|PMID:30042107|PMID:30338240|PMID:30877234|PMID:31132167|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7784063|PMID:7987306|PMID:7987327|PMID:8270255|PMID:8522307|PMID:8592333|PMID:8634692|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8956040|PMID:9058738|PMID:9156047|PMID:9398721|PMID:9399847|PMID:9452032|PMID:9663592|PMID:9829911|PMID:9829912 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:0050771 pheochromocytoma ISO RGD:737311 D RGD:7240710 20191009 OMIM 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:0050771 pheochromocytoma ISO RGD:737311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:10408776|PMID:10900011|PMID:11331612|PMID:11483638|PMID:12000816|PMID:12393546|PMID:12414898|PMID:12844285|PMID:14722919|PMID:14973063|PMID:15300849|PMID:15611064|PMID:15642680|PMID:16452184|PMID:17102069|PMID:17102080|PMID:17661816|PMID:17922902|PMID:18567581|PMID:18836774|PMID:19030229|PMID:19228690|PMID:19336503|PMID:19464396|PMID:19574279|PMID:19602254|PMID:19763184|PMID:19808854|PMID:20151405|PMID:20660572|PMID:21204227|PMID:21463266|PMID:22145147|PMID:22438210|PMID:22799452|PMID:23397066|PMID:23512077|PMID:23772956|PMID:24033266|PMID:24555745|PMID:24977658|PMID:25119015|PMID:25157968|PMID:25563310|PMID:25741868|PMID:26323595|PMID:26822237|PMID:26845104|PMID:27539324|PMID:28388566|PMID:28432847|PMID:28492532|PMID:28873162|PMID:28944243|PMID:29124493|PMID:29616089|PMID:29891534|PMID:30042107|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7987306|PMID:8270255|PMID:8592333|PMID:8707293|PMID:8772572|PMID:8956040|PMID:9156047|PMID:9329368|PMID:9663592|PMID:9829911|PMID:9829912 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:0060221 Maffucci syndrome ISO RGD:737311 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maffucci syndrome PMID:16884327|PMID:24728327|PMID:25741868|PMID:28492532|PMID:9663592 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:0060474 familial erythrocytosis 2 ISO RGD:737311 D RGD:7240710 20191009 OMIM 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:0060474 familial erythrocytosis 2 ISO RGD:737311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chuvash polycythemia | ClinVar Annotator: match by term: Erythrocytosis, familial, 2 PMID:10088816|PMID:10102622|PMID:10205047|PMID:10326868|PMID:10340905|PMID:10364675|PMID:10408776|PMID:10458336|PMID:10533030|PMID:1056348|PMID:10563480|PMID:10567493|PMID:10570625|PMID:10587522|PMID:10612827|PMID:10612832|PMID:10627136|PMID:10697963|PMID:10761708|PMID:10766184|PMID:10823831|PMID:10830910|PMID:10862095|PMID:10878807|PMID:10900011|PMID:11024059|PMID:11058902|PMID:11106358|PMID:11114638|PMID:11160785|PMID:11257211|PMID:11309459|PMID:11331612|PMID:11331613|PMID:11409863|PMID:11483638|PMID:11505222|PMID:11536052|PMID:11688393|PMID:11688398|PMID:11709017|PMID:11739384|PMID:11865071|PMID:11896624|PMID:11921283|PMID:11986208|PMID:11987242|PMID:12000816|PMID:12004076|PMID:12050673|PMID:12081237|PMID:12114475|PMID:12114495|PMID:12202531|PMID:12351569|PMID:12393546|PMID:12414898|PMID:12415268|PMID:12500216|PMID:12510195|PMID:12538644|PMID:12603429|PMID:12624160|PMID:12629069|PMID:12702509|PMID:12807974|PMID:12844285|PMID:12853836|PMID:12912922|PMID:13985160|PMID:14500403|PMID:14556007|PMID:14604959|PMID:14722919|PMID:14726398|PMID:14767570|PMID:14965365|PMID:14973063|PMID:14987375|PMID:15002726|PMID:15109448|PMID:15177666|PMID:15241800|PMID:15300849|PMID:15574766|PMID:15607616|PMID:15611064|PMID:15642664|PMID:15642680|PMID:15709172|PMID:15881703|PMID:15921368|PMID:15921386|PMID:15932632|PMID:16103922|PMID:16142346|PMID:16199547|PMID:16210343|PMID:16261165|PMID:16314641|PMID:16452184|PMID:16488999|PMID:16502427|PMID:16505488|PMID:16572651|PMID:16595991|PMID:16669786|PMID:16775032|PMID:16809612|PMID:16847331|PMID:16868829|PMID:16884327|PMID:16884328|PMID:16952288|PMID:16969113|PMID:17001110|PMID:17006605|PMID:17024664|PMID:17060462|PMID:17102069|PMID:17102080|PMID:17102082|PMID:17102087|PMID:17102088|PMID:17159241|PMID:17264095|PMID:17350623|PMID:17392848|PMID:17406817|PMID:17407064|PMID:17526729|PMID:17537157|PMID:17576681|PMID:17640059|PMID:17661816|PMID:17688370|PMID:17906660|PMID:17919893|PMID:17922902|PMID:17967880|PMID:17992257|PMID:17997830|PMID:18031321|PMID:18067796|PMID:18195360|PMID:18205710|PMID:18209888|PMID:18446368|PMID:18544564|PMID:18551016|PMID:18567581|PMID:18580449|PMID:18584357|PMID:18676741|PMID:18685280|PMID:18836774|PMID:18928468|PMID:19009041|PMID:19029228|PMID:19030229|PMID:19215943|PMID:19228690|PMID:19252526|PMID:19258401|PMID:19270817|PMID:19280651|PMID:19293973|PMID:19304954|PMID:19309509|PMID:19336503|PMID:19408298|PMID:19464396|PMID:19494350|PMID:19558618|PMID:19574279|PMID:19576851|PMID:19602254|PMID:19620968|PMID:19694021|PMID:19763184|PMID:19764026|PMID:19808854|PMID:19906784|PMID:19949673|PMID:19958924|PMID:19996202|PMID:20034980|PMID:20054297|PMID:20064270|PMID:20120764|PMID:20151405|PMID:20223044|PMID:20233476|PMID:20300531|PMID:20351605|PMID:20388653|PMID:20447124|PMID:20518900|PMID:20560986|PMID:20567917|PMID:20583150|PMID:20660572|PMID:20844582|PMID:20846682|PMID:20850701|PMID:20855504|PMID:20952280|PMID:21204227|PMID:21258414|PMID:21362373|PMID:21384277|PMID:21389259|PMID:21449869|PMID:21454469|PMID:21463266|PMID:21606165|PMID:21685897|PMID:21713522|PMID:21715564|PMID:21784903|PMID:21791076|PMID:21876117|PMID:21972040|PMID:21993671|PMID:22071692|PMID:22105611|PMID:22105711|PMID:22156657|PMID:22234250|PMID:22241717|PMID:22357542|PMID:22393103|PMID:22438210|PMID:22462637|PMID:22517557|PMID:22649785|PMID:22683710|PMID:22703879|PMID:22799452|PMID:22825683|PMID:23015148|PMID:23036577|PMID:23070752|PMID:23102223|PMID:23143947|PMID:23224817|PMID:23298237|PMID:23315997|PMID:23318261|PMID:23327821|PMID:23384228|PMID:23397066|PMID:23403324|PMID:23407287|PMID:23407919|PMID:23434161|PMID:23512077|PMID:23538339|PMID:23541568|PMID:23606570|PMID:23626751|PMID:23660872|PMID:23673869|PMID:23772956|PMID:23788753|PMID:23840444|PMID:23842656|PMID:23845641|PMID:23859443|PMID:23990664|PMID:23990666|PMID:24002598|PMID:24033266|PMID:24055113|PMID:24102379|PMID:24115288|PMID:24132471|PMID:24134185|PMID:24206762|PMID:24301059|PMID:24335534|PMID:24339559|PMID:24446253|PMID:24466223|PMID:24518179 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:0060474 familial erythrocytosis 2 ISO RGD:737311 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chuvash polycythemia | ClinVar Annotator: match by term: Erythrocytosis, familial, 2 PMID:24555745|PMID:24581539|PMID:24583008|PMID:24678776|PMID:24707167|PMID:24727139|PMID:24728327|PMID:24729484|PMID:24779271|PMID:24969085|PMID:24977658|PMID:25069792|PMID:25078357|PMID:25119015|PMID:25157968|PMID:25282218|PMID:25310726|PMID:25371412|PMID:25405498|PMID:25557216|PMID:25562111|PMID:25563310|PMID:25583177|PMID:25586603|PMID:25637381|PMID:25640679|PMID:25715769|PMID:25720320|PMID:25741868|PMID:25825477|PMID:25867206|PMID:25885250|PMID:25952756|PMID:25966224|PMID:25985138|PMID:26206375|PMID:26211615|PMID:26224408|PMID:26228213|PMID:26268347|PMID:26323595|PMID:26332594|PMID:26467025|PMID:26503325|PMID:26580448|PMID:26622630|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26920352|PMID:26934580|PMID:26957611|PMID:26973240|PMID:27034144|PMID:27057652|PMID:27146957|PMID:27311873|PMID:27439424|PMID:27498913|PMID:27527340|PMID:27530247|PMID:27539324|PMID:27578599|PMID:27617348|PMID:27651169|PMID:27682873|PMID:27730413|PMID:27785399|PMID:27811160|PMID:28052007|PMID:28202063|PMID:28288108|PMID:28379443|PMID:28388566|PMID:28432847|PMID:2844285|PMID:28454591|PMID:28469506|PMID:28492532|PMID:28503092|PMID:28643803|PMID:28650583|PMID:28724667|PMID:28775317|PMID:28849724|PMID:28873162|PMID:28944243|PMID:28951115|PMID:28973655|PMID:29022557|PMID:29124493|PMID:29294023|PMID:29595810|PMID:29607586|PMID:29616089|PMID:29625052|PMID:29662268|PMID:29684080|PMID:29748190|PMID:29749453|PMID:29790589|PMID:29871882|PMID:29891534|PMID:29946849|PMID:29949369|PMID:29978187|PMID:30006056|PMID:30042107|PMID:30093976|PMID:30105105|PMID:30185211|PMID:30194449|PMID:30278534|PMID:30338240|PMID:30477447|PMID:30522901|PMID:30548481|PMID:30877234|PMID:30900640|PMID:30902965|PMID:30943211|PMID:30946460|PMID:31034483|PMID:31087189|PMID:31132167|PMID:31149315|PMID:31159747|PMID:31337753|PMID:31350093|PMID:31368132|PMID:31383958|PMID:31397861|PMID:31447099|PMID:31528828|PMID:31538058|PMID:31620170|PMID:31666924|PMID:31779674|PMID:31996412|PMID:32101665|PMID:32106822|PMID:32238909|PMID:32303605|PMID:32420132|PMID:32561571|PMID:32671223|PMID:32869749|PMID:33004005|PMID:33151962|PMID:33219105|PMID:33362715|PMID:33720516|PMID:33840814|PMID:33938902|PMID:34036514|PMID:34109129|PMID:34416425|PMID:34439168|PMID:34566400|PMID:35008334|PMID:35448166|PMID:35734542|PMID:36281577|PMID:7553625|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7915601|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8069305|PMID:8187067|PMID:8239848|PMID:8270255|PMID:8493574|PMID:8522307|PMID:8550742|PMID:8592333|PMID:8634692|PMID:8641695|PMID:8641976|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8825918|PMID:8825919|PMID:8863170|PMID:8956040|PMID:9058738|PMID:9156047|PMID:9209471|PMID:9215674|PMID:9329368|PMID:9398721|PMID:9399847|PMID:9435426|PMID:9447969|PMID:9452032|PMID:9463336|PMID:9523203|PMID:9536098|PMID:9663592|PMID:9671762|PMID:9681856|PMID:9681858|PMID:9751722|PMID:9770531|PMID:982991|PMID:9829911|PMID:9829912|PMID:9880225 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:737311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:0080855 Parkinsonism ISO RGD:3960 D RGD:9068941 20200609 RGD PMID:20302395|REF_RGD_ID:2325190 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:0110671 congenital myasthenic syndrome 6 ISO RGD:737311 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC PMID:10567493|PMID:12000816|PMID:12114495|PMID:14722919|PMID:14767570|PMID:15300849|PMID:18446368|PMID:19270817|PMID:20120764|PMID:21362373|PMID:23842656|PMID:24206762|PMID:24301059|PMID:24707167|PMID:25157968|PMID:25720320|PMID:25741868|PMID:25867206|PMID:27527340|PMID:27617348|PMID:28492532|PMID:7728151|PMID:7784063|PMID:7987306|PMID:7987327|PMID:8522307|PMID:8730290|PMID:8956040|PMID:9452032|PMID:9829911|PMID:9829912 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:737311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:10763 hypertension ISO RGD:737311 D RGD:9068941 20200609 RGD PMID:12500216|REF_RGD_ID:1580371 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:11054 urinary bladder cancer ISO RGD:3960 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:19399409|REF_RGD_ID:2325183 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:13636 Fanconi anemia ISO RGD:737311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:17436244|PMID:28492532 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:14175 von Hippel-Lindau disease ISO RGD:737311 D RGD:7240710 20191009 OMIM 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:14175 von Hippel-Lindau disease ISO RGD:737311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Von Hippel-Lindau syndrome PMID:10088816|PMID:10102622|PMID:10205047|PMID:10326868|PMID:10340905|PMID:10364675|PMID:10408776|PMID:10458336|PMID:10533030|PMID:1056348|PMID:10563480|PMID:10567493|PMID:10570625|PMID:10581162|PMID:10587522|PMID:10612827|PMID:10627136|PMID:10697963|PMID:10761708|PMID:10766184|PMID:10823831|PMID:10862095|PMID:10878807|PMID:10900011|PMID:10955664|PMID:11058902|PMID:11106358|PMID:11114638|PMID:11160785|PMID:11257211|PMID:11309459|PMID:11331612|PMID:11331613|PMID:11409863|PMID:11483638|PMID:11505222|PMID:11536052|PMID:11688393|PMID:11688398|PMID:11709017|PMID:11739384|PMID:11865071|PMID:11896624|PMID:11921283|PMID:11987242|PMID:12000816|PMID:12004076|PMID:12050673|PMID:12056827|PMID:12081237|PMID:12114475|PMID:12114495|PMID:12202531|PMID:12351569|PMID:12393546|PMID:12414898|PMID:12415268|PMID:12500216|PMID:12510195|PMID:12538644|PMID:12603429|PMID:12624160|PMID:12629069|PMID:12702509|PMID:12807974|PMID:12844285|PMID:12853836|PMID:12912922|PMID:13985160|PMID:14500403|PMID:14556007|PMID:14604959|PMID:14722919|PMID:14726398|PMID:14767570|PMID:14965365|PMID:14973063|PMID:14987375|PMID:15109448|PMID:15177666|PMID:15300849|PMID:15574766|PMID:15611064|PMID:15642664|PMID:15642680|PMID:15881703|PMID:15932632|PMID:16142346|PMID:16199547|PMID:16210343|PMID:16261165|PMID:16314641|PMID:16452184|PMID:16488999|PMID:16502427|PMID:16505488|PMID:16572651|PMID:16595991|PMID:16669786|PMID:16775032|PMID:16809612|PMID:16847331|PMID:16868829|PMID:16884327|PMID:16952288|PMID:16969113|PMID:17001110|PMID:17024664|PMID:17060462|PMID:17102069|PMID:17102082|PMID:17102087|PMID:17159241|PMID:17264095|PMID:17350623|PMID:17406817|PMID:17407064|PMID:17526729|PMID:17576681|PMID:17640059|PMID:17661816|PMID:17688370|PMID:17906660|PMID:17919893|PMID:17922902|PMID:17967880|PMID:17992257|PMID:17997830|PMID:18067796|PMID:18195360|PMID:18205710|PMID:18209888|PMID:18446368|PMID:18544564|PMID:18551016|PMID:18567581|PMID:18580449|PMID:18584357|PMID:18676741|PMID:18685280|PMID:18836774|PMID:18928468|PMID:19009041|PMID:19029228|PMID:19030229|PMID:19096585|PMID:19215943|PMID:19228690|PMID:19252526|PMID:19258401|PMID:19270817|PMID:19280651|PMID:19293973|PMID:19304954|PMID:19309509|PMID:19336503|PMID:19408298|PMID:19464396|PMID:19494350|PMID:19574279|PMID:19576851|PMID:19602254|PMID:19620968|PMID:19694021|PMID:19734639|PMID:19763184|PMID:19764026|PMID:19808854|PMID:19906784|PMID:19949673|PMID:19958924|PMID:19996202|PMID:20034980|PMID:20054297|PMID:20064270|PMID:20120764|PMID:20151405|PMID:20223044|PMID:20233476|PMID:20351605|PMID:20388653|PMID:20447124|PMID:20518900|PMID:20560986|PMID:20567917|PMID:20583150|PMID:20660572|PMID:20846682|PMID:20850701|PMID:20855504|PMID:20952280|PMID:21204227|PMID:21258414|PMID:21362373|PMID:21384277|PMID:21389259|PMID:21454469|PMID:21463266|PMID:21606165|PMID:21685897|PMID:21713522|PMID:21715564|PMID:21784903|PMID:21791076|PMID:21876117|PMID:21972040|PMID:21993671|PMID:22071692|PMID:22105611|PMID:22105711|PMID:22156657|PMID:22234250|PMID:22241717|PMID:22357542|PMID:22393103|PMID:22438210|PMID:22462637|PMID:22517557|PMID:22649785|PMID:22683710|PMID:22799452|PMID:22825683|PMID:23015148|PMID:23036577|PMID:23070752|PMID:23102223|PMID:23143947|PMID:23224817|PMID:23298237|PMID:23315997|PMID:23318261|PMID:23327821|PMID:23384228|PMID:23397066|PMID:23403324|PMID:23407919|PMID:23434161|PMID:23512077|PMID:23541568|PMID:23606570|PMID:23626751|PMID:23660872|PMID:23673869|PMID:23772956|PMID:23788753|PMID:23840444|PMID:23842656|PMID:23845641|PMID:23859443|PMID:23990664|PMID:23990666|PMID:24002598|PMID:24033266|PMID:24055113|PMID:24102379|PMID:24115288|PMID:24132471|PMID:24134185|PMID:24147197|PMID:24206762|PMID:24301059|PMID:24335534|PMID:24339559|PMID:24446253|PMID:24555745|PMID:24581539|PMID:24583008|PMID:24678776|PMID:24707167|PMID:24727139|PMID:24728327|PMID:24729484|PMID:24779271|PMID:24969085|PMID:24977658|PMID:24986515|PMID:25078357|PMID:25119015|PMID:25157968|PMID:25282218|PMID:25310726|PMID:25371412|PMID:25405498|PMID:25557216|PMID:25562111 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:14175 von Hippel-Lindau disease ISO RGD:737311 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Von Hippel-Lindau syndrome PMID:25563310|PMID:25583177|PMID:25586603|PMID:25637381|PMID:25715769|PMID:25720320|PMID:25741868|PMID:25741896|PMID:25825477|PMID:25867206|PMID:25952756|PMID:25966224|PMID:25985138|PMID:26206375|PMID:26211615|PMID:26228213|PMID:26268347|PMID:26332594|PMID:26467025|PMID:26503325|PMID:26580448|PMID:26622630|PMID:26681312|PMID:26763786|PMID:26822237|PMID:26845104|PMID:26920352|PMID:26934580|PMID:26973240|PMID:27034144|PMID:27057652|PMID:27146957|PMID:27179072|PMID:27311873|PMID:27439424|PMID:27498913|PMID:27527340|PMID:27530247|PMID:27539324|PMID:27617348|PMID:27651169|PMID:27730413|PMID:27785399|PMID:28052007|PMID:28202063|PMID:28349240|PMID:28379443|PMID:28388566|PMID:28432847|PMID:2844285|PMID:28454591|PMID:28469506|PMID:28492532|PMID:28503092|PMID:28643803|PMID:28650583|PMID:28775317|PMID:28849724|PMID:28873162|PMID:28944243|PMID:28951115|PMID:28973655|PMID:29022557|PMID:29124493|PMID:29294023|PMID:29437867|PMID:29595810|PMID:29616089|PMID:29625052|PMID:29662268|PMID:29684080|PMID:29748190|PMID:29749453|PMID:29789510|PMID:29790589|PMID:29871882|PMID:29891534|PMID:29946849|PMID:29949369|PMID:29978187|PMID:30042107|PMID:30093976|PMID:30105105|PMID:30185211|PMID:30194449|PMID:30278534|PMID:30338240|PMID:30522901|PMID:30877234|PMID:30900640|PMID:30902965|PMID:30943211|PMID:30946460|PMID:31034483|PMID:31087189|PMID:31132167|PMID:31149315|PMID:31159747|PMID:31350093|PMID:31368132|PMID:31383958|PMID:31397861|PMID:31447099|PMID:31528828|PMID:31538058|PMID:31620170|PMID:31666924|PMID:31779674|PMID:32106822|PMID:32238909|PMID:32869749|PMID:33004005|PMID:33151962|PMID:33219105|PMID:33362715|PMID:33618821|PMID:33720516|PMID:33840814|PMID:33938902|PMID:34036514|PMID:34109129|PMID:34416425|PMID:34439168|PMID:34566400|PMID:35008334|PMID:35448166|PMID:35734542|PMID:7553625|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7915601|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8069849|PMID:8187067|PMID:8239848|PMID:8270255|PMID:8493574|PMID:8522307|PMID:8550742|PMID:8592333|PMID:8634692|PMID:8641695|PMID:8641976|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8825918|PMID:8825919|PMID:8863170|PMID:8956040|PMID:9058738|PMID:9143408|PMID:9156047|PMID:9209471|PMID:9215674|PMID:9329368|PMID:9398721|PMID:9399847|PMID:9435426|PMID:9452032|PMID:9536098|PMID:9663592|PMID:9671762|PMID:9681856|PMID:9681858|PMID:9751722|PMID:9770531|PMID:982991|PMID:9829911|PMID:9829912|PMID:9880225 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:14566 disease of cellular proliferation ISO RGD:737311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:10567493|PMID:10761708|PMID:11106358|PMID:11309459|PMID:11409863|PMID:11739384|PMID:12414898|PMID:16809612|PMID:17024664|PMID:17661816|PMID:18676741|PMID:19228690|PMID:19408298|PMID:19906784|PMID:20054297|PMID:20151405|PMID:20447124|PMID:21715564|PMID:22234250|PMID:22357542|PMID:23990664|PMID:23990666|PMID:24033266|PMID:25078357|PMID:25157968|PMID:25637381|PMID:25741868|PMID:27527340|PMID:28469506|PMID:28492532|PMID:28503092|PMID:29748190|PMID:29790589|PMID:29949369|PMID:30877234|PMID:7563486|PMID:8634692|PMID:8707293|PMID:8772572|PMID:8956040|PMID:9829911 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:1793 pancreatic cancer ISO RGD:737311 D RGD:9068941 20200609 RGD DNA:hypermethylation, deletion:promoter (human) PMID:19690016|REF_RGD_ID:2325169 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:1793 pancreatic cancer ISO RGD:737311 D RGD:9068941 20200609 RGD associated with Hippel-Lindau Disease;DNA:missense mutation:exon:p.R238Q (human) PMID:9488521|REF_RGD_ID:2325176 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:2154 nephroblastoma ISO RGD:3960 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:11880179|REF_RGD_ID:625549 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:2154 nephroblastoma ISO RGD:737311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11880179 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:2377 multiple sclerosis ISO RGD:737311 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:2394 ovarian cancer ISO RGD:737311 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24727139|PMID:24728327|PMID:25741868|PMID:27498913|PMID:28492532 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:2975 cystic kidney disease ISO RGD:737311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal cyst PMID:25741868 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:305 carcinoma ISO RGD:737311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16061637 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737311 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:19065635|REF_RGD_ID:2325022 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:4450 renal cell carcinoma ISO RGD:737311 D RGD:7240710 20191009 OMIM 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:4450 renal cell carcinoma ISO RGD:737311 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma with paraneoplastic erythrocytosis PMID:10567493|PMID:10900011|PMID:11309459|PMID:11331612|PMID:11921283|PMID:11986208|PMID:12000816|PMID:12114495|PMID:14722919|PMID:14767570|PMID:14973063|PMID:15300849|PMID:15607616|PMID:16452184|PMID:17102069|PMID:17661816|PMID:18446368|PMID:18567581|PMID:18836774|PMID:19270817|PMID:19464396|PMID:19574279|PMID:19602254|PMID:20120764|PMID:20660572|PMID:21362373|PMID:21463266|PMID:22799452|PMID:23512077|PMID:23772956|PMID:23842656|PMID:24206762|PMID:24301059|PMID:24707167|PMID:25119015|PMID:25157968|PMID:25563310|PMID:25720320|PMID:25741868|PMID:25867206|PMID:26822237|PMID:27527340|PMID:27539324|PMID:27617348|PMID:28492532|PMID:28944243|PMID:29124493|PMID:29616089|PMID:30042107|PMID:33720516|PMID:35008334|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7784063|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8270255|PMID:8522307|PMID:8592333|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8956040|PMID:9156047|PMID:9452032|PMID:9829911|PMID:9829912 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:4465 papillary renal cell carcinoma ISO RGD:737311 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 PMID:10567493|PMID:10900011|PMID:11921283|PMID:12000816|PMID:12114495|PMID:14722919|PMID:14767570|PMID:14973063|PMID:15300849|PMID:17102069|PMID:18446368|PMID:18836774|PMID:19270817|PMID:19464396|PMID:19574279|PMID:19602254|PMID:20120764|PMID:20660572|PMID:21362373|PMID:21463266|PMID:22799452|PMID:23512077|PMID:23842656|PMID:24206762|PMID:24301059|PMID:24707167|PMID:25119015|PMID:25157968|PMID:25563310|PMID:25720320|PMID:25741868|PMID:25867206|PMID:26822237|PMID:27527340|PMID:27539324|PMID:27617348|PMID:28492532|PMID:28944243|PMID:29616089|PMID:30042107|PMID:33720516|PMID:7660122|PMID:7728151|PMID:7784063|PMID:7987306|PMID:7987327|PMID:8270255|PMID:8522307|PMID:8592333|PMID:8730290|PMID:8956040|PMID:9156047|PMID:9452032|PMID:9829911|PMID:9829912 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:4624 Ollier disease ISO RGD:737311 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Enchondromatosis PMID:10088816|PMID:10567493|PMID:10612827|PMID:10761708|PMID:11106358|PMID:11257211|PMID:11739384|PMID:12202531|PMID:12414898|PMID:15300849|PMID:17024664|PMID:19228690|PMID:19408298|PMID:19574279|PMID:19906784|PMID:20151405|PMID:20447124|PMID:21715564|PMID:22234250|PMID:23990664|PMID:23990666|PMID:24033266|PMID:24055113|PMID:24969085|PMID:25157968|PMID:25637381|PMID:25741868|PMID:26211615|PMID:27527340|PMID:28492532|PMID:28503092|PMID:29790589|PMID:30877234|PMID:7563486|PMID:7987306|PMID:8634692|PMID:8707293|PMID:8772572|PMID:8956040|PMID:9681856|PMID:9829911|PMID:9829912 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:5119 ovarian cyst susceptibility ISO RGD:1318722 D RGD:9068941 20230128 RGD PMID:29684361|REF_RGD_ID:155804292 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:630 genetic disease ISO RGD:737311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12202531|PMID:16199547|PMID:20233476|PMID:20518900|PMID:20850701|PMID:27527340|PMID:28492532|PMID:29891534|PMID:30900640|PMID:31350093|PMID:8956040|PMID:9829912 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:6500 cerebellar angioblastoma ISO RGD:737311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar hemangioblastoma PMID:10567493|PMID:12114495|PMID:15611064|PMID:22799452|PMID:23384228|PMID:25741868|PMID:28492532|PMID:7728151|PMID:7987306 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:657 adenoma ISO RGD:737311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16061637 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737311 D RGD:9068941 20230202 RGD PMID:31321740|REF_RGD_ID:155882550 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:687 hepatoblastoma ISO RGD:737311 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:10567493|PMID:10612827|PMID:10761708|PMID:11106358|PMID:11257211|PMID:11739384|PMID:12202531|PMID:12414898|PMID:15300849|PMID:19228690|PMID:19574279|PMID:19906784|PMID:20447124|PMID:22234250|PMID:23990664|PMID:23990666|PMID:24033266|PMID:24055113|PMID:25157968|PMID:25637381|PMID:25741868|PMID:26211615|PMID:27527340|PMID:28492532|PMID:28503092|PMID:29790589|PMID:30877234|PMID:7563486|PMID:8634692|PMID:8707293|PMID:8772572|PMID:8956040|PMID:9829911|PMID:9829912 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:8432 polycythemia ISO RGD:737311 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Polycythemia PMID:15642680|PMID:25637381|PMID:28492532 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:9000039 Spinal Cord Injuries ISO RGD:3960 D RGD:9068941 20200609 RGD PMID:20125055|REF_RGD_ID:2325181 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:9002265 Kidney Neoplasms ISO RGD:3960 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:11880179|REF_RGD_ID:625549 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:9002265 Kidney Neoplasms ISO RGD:737311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11880179 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:737311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:10900011|PMID:12000816|PMID:14722919|PMID:14973063|PMID:15300849|PMID:17102069|PMID:18836774|PMID:19464396|PMID:19574279|PMID:19602254|PMID:20660572|PMID:21463266|PMID:22799452|PMID:23512077|PMID:25119015|PMID:25157968|PMID:25563310|PMID:25741868|PMID:26822237|PMID:27539324|PMID:28492532|PMID:28944243|PMID:29616089|PMID:30042107|PMID:7660122|PMID:7728151|PMID:7784063|PMID:7987306|PMID:8270255|PMID:8592333|PMID:8956040|PMID:9156047|PMID:9829911|PMID:9829912 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:9005172 Lung Neoplasms ISO RGD:737311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16061637 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:737311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:737311 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10567493|PMID:10900011|PMID:11309459|PMID:11331612|PMID:11921283|PMID:12000816|PMID:12114495|PMID:14722919|PMID:14767570|PMID:14973063|PMID:15300849|PMID:16452184|PMID:17102069|PMID:17661816|PMID:18446368|PMID:18567581|PMID:18836774|PMID:19270817|PMID:19464396|PMID:19574279|PMID:19602254|PMID:20120764|PMID:20660572|PMID:21362373|PMID:21463266|PMID:22799452|PMID:23512077|PMID:23772956|PMID:23842656|PMID:24206762|PMID:24301059|PMID:24707167|PMID:25119015|PMID:25157968|PMID:25563310|PMID:25720320|PMID:25741868|PMID:25867206|PMID:26822237|PMID:27527340|PMID:27539324|PMID:27617348|PMID:28492532|PMID:28944243|PMID:29616089|PMID:30042107|PMID:33720516|PMID:35008334|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7784063|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8270255|PMID:8522307|PMID:8592333|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8956040|PMID:9156047|PMID:9452032|PMID:9829911|PMID:9829912 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:9007 sudden infant death syndrome ISO RGD:11485 D RGD:9068941 20220825 MouseDO OMIM:272120 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28643803|PMID:28724667|PMID:28775317|PMID:28873162|PMID:28944243|PMID:29124493|PMID:29595810|PMID:29607586|PMID:29616089|PMID:29748190|PMID:29790589|PMID:29891534|PMID:29949369|PMID:29978187|PMID:30042107|PMID:30093976|PMID:30105105|PMID:30185211|PMID:30338240|PMID:30877234|PMID:30943211|PMID:30946460|PMID:31034483|PMID:31132167|PMID:31149315|PMID:31159747|PMID:31337753|PMID:31383958|PMID:31397861|PMID:31528828|PMID:31779674|PMID:32106822|PMID:32238909|PMID:32671223|PMID:33362715|PMID:34439168|PMID:7553625|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7915601|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8187067|PMID:8270255|PMID:8493574|PMID:8522307|PMID:8550742|PMID:8592333|PMID:8634692|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8825918|PMID:8825919|PMID:8829648|PMID:8863170|PMID:8956040|PMID:9058738|PMID:9143408|PMID:9156047|PMID:9215674|PMID:9398721|PMID:9399847|PMID:9435426|PMID:9452032|PMID:9452106|PMID:9463336|PMID:9536098|PMID:9663592|PMID:9671762|PMID:9681856|PMID:9751722|PMID:9770531|PMID:9829911|PMID:9829912|PMID:9880225 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10088816|PMID:10102622|PMID:10340905|PMID:10364675|PMID:10408776|PMID:10458336|PMID:1056348|PMID:10563480|PMID:10567493|PMID:10570625|PMID:10581162|PMID:10587522|PMID:10612827|PMID:10697963|PMID:10761708|PMID:10766184|PMID:10823831|PMID:10862095|PMID:10878807|PMID:10900011|PMID:11058902|PMID:11106358|PMID:11160785|PMID:11257211|PMID:11309459|PMID:11331612|PMID:11331613|PMID:11409863|PMID:11483638|PMID:11505222|PMID:11688398|PMID:11709017|PMID:11739384|PMID:11793370|PMID:11921283|PMID:11987242|PMID:12000816|PMID:12004076|PMID:12050673|PMID:12114495|PMID:12202531|PMID:12351569|PMID:12393546|PMID:12414898|PMID:12415268|PMID:12510195|PMID:12538644|PMID:12624160|PMID:12629069|PMID:12702509|PMID:12807974|PMID:12844285|PMID:12912922|PMID:14500403|PMID:14556007|PMID:14604959|PMID:14636579|PMID:14722919|PMID:14726398|PMID:14767570|PMID:14965365|PMID:14973063|PMID:15109448|PMID:15177666|PMID:15300849|PMID:15574766|PMID:15607616|PMID:15611064|PMID:15642664|PMID:15642680|PMID:15824109|PMID:15932632|PMID:16142346|PMID:16210343|PMID:16261165|PMID:16314641|PMID:16452184|PMID:16488999|PMID:16502427|PMID:16505488|PMID:16595991|PMID:16775032|PMID:16809612|PMID:16847331|PMID:16884327|PMID:16952288|PMID:16969113|PMID:17024664|PMID:17102069|PMID:17102082|PMID:17102088|PMID:17264095|PMID:17350623|PMID:17392848|PMID:17406817|PMID:17407064|PMID:17526729|PMID:17537157|PMID:17576681|PMID:17640059|PMID:17661816|PMID:17688370|PMID:17906660|PMID:17992257|PMID:17997830|PMID:18205710|PMID:18209888|PMID:18446368|PMID:18544564|PMID:18551016|PMID:18567581|PMID:18580449|PMID:18584357|PMID:18676741|PMID:18685280|PMID:18836774|PMID:19009041|PMID:19029228|PMID:19030229|PMID:19215943|PMID:19228690|PMID:19252526|PMID:19270817|PMID:19280651|PMID:19304954|PMID:19336503|PMID:19408298|PMID:19464396|PMID:19494350|PMID:19574279|PMID:19576851|PMID:19602254|PMID:19620968|PMID:19694021|PMID:19763184|PMID:19808854|PMID:19906784|PMID:19958924|PMID:19996202|PMID:20034980|PMID:20054297|PMID:20120764|PMID:20145706|PMID:20151405|PMID:20223044|PMID:20233476|PMID:20351605|PMID:20388653|PMID:20447124|PMID:20518900|PMID:20567917|PMID:20583150|PMID:20660572|PMID:20846682|PMID:20855504|PMID:20952280|PMID:21204227|PMID:21362373|PMID:21389259|PMID:21454469|PMID:21463266|PMID:21606165|PMID:21685897|PMID:21715564|PMID:21784903|PMID:21876117|PMID:21972040|PMID:21993671|PMID:22071692|PMID:22105611|PMID:22145147|PMID:22156657|PMID:22234250|PMID:22241717|PMID:22357542|PMID:22393103|PMID:22438210|PMID:22462637|PMID:22517557|PMID:22649785|PMID:22683710|PMID:22799452|PMID:22825683|PMID:23015148|PMID:23070752|PMID:23102223|PMID:23143947|PMID:23298237|PMID:23318261|PMID:23397066|PMID:23403324|PMID:23434161|PMID:23512077|PMID:23541568|PMID:23606570|PMID:23660872|PMID:23673869|PMID:23772956|PMID:23840444|PMID:23842656|PMID:23845641|PMID:23859443|PMID:23990664|PMID:23990666|PMID:24033266|PMID:24055113|PMID:24102379|PMID:24115288|PMID:24132471|PMID:24134185|PMID:24206762|PMID:24301059|PMID:24466223|PMID:24518179|PMID:24555745|PMID:24581539|PMID:24583008|PMID:24707167|PMID:24727139|PMID:24728327|PMID:24729484|PMID:24969085|PMID:24977658|PMID:25078357|PMID:25119015|PMID:25157968|PMID:25371412|PMID:25405498|PMID:25562111|PMID:25563310|PMID:25583177|PMID:25637381|PMID:25661653|PMID:25715769|PMID:25720320|PMID:25741868|PMID:25825477|PMID:25867206|PMID:25952756|PMID:25966224|PMID:25985138|PMID:26211615|PMID:26228213|PMID:26268347|PMID:26323595|PMID:26332594|PMID:26467025|PMID:26503325|PMID:26580448|PMID:26681312|PMID:26763786|PMID:26822237|PMID:26845104|PMID:27057652|PMID:27146957|PMID:27179072|PMID:27311873|PMID:27439424|PMID:27498913|PMID:27527340|PMID:27530247|PMID:27539324|PMID:27617348|PMID:27651169|PMID:27682873|PMID:27730413|PMID:27811160|PMID:28052007|PMID:28202063|PMID:28388566|PMID:28454591|PMID:28469506|PMID:28492532|PMID:28503092|PMID:28643803|PMID:28724667|PMID:28775317|PMID:28873162|PMID:28944243|PMID:29124493|PMID:29595810|PMID:29607586|PMID:29616089|PMID:29748190|PMID:29790589 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29891534|PMID:29949369|PMID:29978187|PMID:30042107|PMID:30093976|PMID:30105105|PMID:30185211|PMID:30338240|PMID:30877234|PMID:30943211|PMID:30946460|PMID:31034483|PMID:31132167|PMID:31149315|PMID:31159747|PMID:31337753|PMID:31350093|PMID:31368132|PMID:31383958|PMID:31397861|PMID:31528828|PMID:31779674|PMID:32106822|PMID:32238909|PMID:32671223|PMID:33362715|PMID:33720516|PMID:34439168|PMID:7553625|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7915601|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8187067|PMID:8270255|PMID:8493574|PMID:8522307|PMID:8550742|PMID:8592333|PMID:8634692|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8825918|PMID:8825919|PMID:8829648|PMID:8863170|PMID:8956040|PMID:9058738|PMID:9143408|PMID:9156047|PMID:9398721|PMID:9399847|PMID:9435426|PMID:9452032|PMID:9452106|PMID:9463336|PMID:9536098|PMID:9663592|PMID:9671762|PMID:9681856|PMID:9751722|PMID:9770531|PMID:9829911|PMID:9829912|PMID:9880225 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25885250|PMID:25952756|PMID:25966224|PMID:25985138|PMID:26211615|PMID:26228213|PMID:26268347|PMID:26323595|PMID:26332594|PMID:26467025|PMID:26503325|PMID:26580448|PMID:26622630|PMID:26681312|PMID:26763786|PMID:26822237|PMID:26845104|PMID:26920352|PMID:26934580|PMID:26957611|PMID:26973240|PMID:27034144|PMID:27057652|PMID:27146957|PMID:27179072|PMID:27311873|PMID:27439424|PMID:27498913|PMID:27527340|PMID:27530247|PMID:27539324|PMID:27617348|PMID:27651169|PMID:27682873|PMID:27730413|PMID:27785399|PMID:27811160|PMID:28052007|PMID:28202063|PMID:28288108|PMID:28388566|PMID:28432847|PMID:2844285|PMID:28454591|PMID:28469506|PMID:28492532|PMID:28503092|PMID:28643803|PMID:28724667|PMID:28775317|PMID:28849724|PMID:28873162|PMID:28944243|PMID:28951115|PMID:28973655|PMID:29022557|PMID:29124493|PMID:29294023|PMID:29595810|PMID:29607586|PMID:29616089|PMID:29625052|PMID:29662268|PMID:29684080|PMID:29748190|PMID:29790589|PMID:29891534|PMID:29946849|PMID:29949369|PMID:29978187|PMID:30006056|PMID:30042107|PMID:30093976|PMID:30105105|PMID:30185211|PMID:30194449|PMID:30338240|PMID:30522901|PMID:30548481|PMID:30877234|PMID:30902965|PMID:30943211|PMID:30946460|PMID:31034483|PMID:31087189|PMID:31132167|PMID:31149315|PMID:31159747|PMID:31337753|PMID:31350093|PMID:31368132|PMID:31383958|PMID:31397861|PMID:31447099|PMID:31453227|PMID:31528828|PMID:31538058|PMID:31620170|PMID:31666924|PMID:31779674|PMID:32106822|PMID:32238909|PMID:32303605|PMID:32671223|PMID:32869749|PMID:33151962|PMID:33219105|PMID:33362715|PMID:33720516|PMID:33840814|PMID:33938902|PMID:34109129|PMID:34416425|PMID:34439168|PMID:34566400|PMID:35734542|PMID:7553625|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7915601|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8187067|PMID:8239848|PMID:8270255|PMID:8493574|PMID:8522307|PMID:8550742|PMID:8592333|PMID:8634692|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8825918|PMID:8825919|PMID:8829648|PMID:8863170|PMID:8956040|PMID:9058738|PMID:9143408|PMID:9156047|PMID:9215674|PMID:9329368|PMID:9398721|PMID:9399847|PMID:9435426|PMID:9452032|PMID:9452106|PMID:9463336|PMID:9536098|PMID:9663592|PMID:9671762|PMID:9681856|PMID:9681858|PMID:9751722|PMID:9770531|PMID:9829911|PMID:9829912|PMID:9880225 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10088816|PMID:10102622|PMID:10205047|PMID:10340905|PMID:10364675|PMID:10408776|PMID:10458336|PMID:10533030|PMID:1056348|PMID:10563480|PMID:10567493|PMID:10570625|PMID:10581162|PMID:10587522|PMID:10612827|PMID:10612832|PMID:10627136|PMID:10697963|PMID:10761708|PMID:10766184|PMID:10823831|PMID:10862095|PMID:10878807|PMID:10900011|PMID:11058902|PMID:11106358|PMID:11114638|PMID:11160785|PMID:11257211|PMID:11309459|PMID:11331612|PMID:11331613|PMID:11409863|PMID:11483638|PMID:11505222|PMID:11688398|PMID:11709017|PMID:11739384|PMID:11793370|PMID:11865071|PMID:11896624|PMID:11921283|PMID:11986208|PMID:11987242|PMID:12000816|PMID:12004076|PMID:12050673|PMID:12114475|PMID:12114495|PMID:12202531|PMID:12351569|PMID:12393546|PMID:12414898|PMID:12415268|PMID:12500216|PMID:12510195|PMID:12538644|PMID:12603429|PMID:12624160|PMID:12629069|PMID:12702509|PMID:12807974|PMID:12844285|PMID:12912922|PMID:13985160|PMID:14500403|PMID:14556007|PMID:14604959|PMID:14636579|PMID:14722919|PMID:14726398|PMID:14767570|PMID:14965365|PMID:14973063|PMID:15109448|PMID:15177666|PMID:15241800|PMID:15300849|PMID:15574766|PMID:15607616|PMID:15611064|PMID:15642664|PMID:15642680|PMID:15709172|PMID:15824109|PMID:15881703|PMID:15921368|PMID:15921386|PMID:15932632|PMID:16142346|PMID:16210343|PMID:16261165|PMID:16314641|PMID:16452184|PMID:16488999|PMID:16502427|PMID:16505488|PMID:16595991|PMID:16669786|PMID:16775032|PMID:16809612|PMID:16847331|PMID:16868829|PMID:16884327|PMID:16952288|PMID:16969113|PMID:17024664|PMID:17102069|PMID:17102080|PMID:17102082|PMID:17102087|PMID:17102088|PMID:17159241|PMID:17264095|PMID:17350623|PMID:17392848|PMID:17406817|PMID:17407064|PMID:17526729|PMID:17537157|PMID:17576681|PMID:17640059|PMID:17661816|PMID:17688370|PMID:17906660|PMID:17922902|PMID:17992257|PMID:17997830|PMID:18067796|PMID:18195360|PMID:18205710|PMID:18209888|PMID:18446368|PMID:18544564|PMID:18551016|PMID:18567581|PMID:18580449|PMID:18584357|PMID:18676741|PMID:18685280|PMID:18836774|PMID:18928468|PMID:19009041|PMID:19029228|PMID:19030229|PMID:19215943|PMID:19228690|PMID:19252526|PMID:19270817|PMID:19280651|PMID:19304954|PMID:19336503|PMID:19408298|PMID:19464396|PMID:19494350|PMID:19558618|PMID:19574279|PMID:19576851|PMID:19602254|PMID:19620968|PMID:19694021|PMID:19763184|PMID:19808854|PMID:19906784|PMID:19949673|PMID:19958924|PMID:19996202|PMID:20034980|PMID:20054297|PMID:20064270|PMID:20120764|PMID:20145706|PMID:20151405|PMID:20223044|PMID:20233476|PMID:20351605|PMID:20388653|PMID:20447124|PMID:20518900|PMID:20560986|PMID:20567917|PMID:20583150|PMID:20660572|PMID:20846682|PMID:20855504|PMID:20952280|PMID:21204227|PMID:21362373|PMID:21389259|PMID:21449869|PMID:21454469|PMID:21463266|PMID:21606165|PMID:21685897|PMID:21713522|PMID:21715564|PMID:21784903|PMID:21791076|PMID:21876117|PMID:21972040|PMID:21993671|PMID:22071692|PMID:22105611|PMID:22105711|PMID:22145147|PMID:22156657|PMID:22234250|PMID:22241717|PMID:22357542|PMID:22393103|PMID:22438210|PMID:22462637|PMID:22517557|PMID:22649785|PMID:22683710|PMID:22703879|PMID:22799452|PMID:22825683|PMID:23015148|PMID:23056405|PMID:23070752|PMID:23102223|PMID:23143947|PMID:23298237|PMID:23318261|PMID:23327821|PMID:23384228|PMID:23397066|PMID:23403324|PMID:23407919|PMID:23434161|PMID:23512077|PMID:23541568|PMID:23606570|PMID:23626751|PMID:23660872|PMID:23673869|PMID:23772956|PMID:23840444|PMID:23842656|PMID:23845641|PMID:23859443|PMID:23990664|PMID:23990666|PMID:24002598|PMID:24033266|PMID:24055113|PMID:24102379|PMID:24115288|PMID:24132471|PMID:24134185|PMID:24147197|PMID:24206762|PMID:24301059|PMID:24335534|PMID:24339559|PMID:24466223|PMID:24518179|PMID:24555745|PMID:24581539|PMID:24583008|PMID:24707167|PMID:24727139|PMID:24728327|PMID:24729484|PMID:24969085|PMID:24977658|PMID:24986515|PMID:25069792|PMID:25078357|PMID:25119015|PMID:25157968|PMID:25282218|PMID:25310726|PMID:25371412|PMID:25405498|PMID:25562111|PMID:25563310|PMID:25583177|PMID:25586603|PMID:25637381|PMID:25661653|PMID:25715769|PMID:25720320|PMID:25741868 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25825477|PMID:25867206|PMID:25885250|PMID:25952756|PMID:25966224|PMID:25985138|PMID:26211615|PMID:26228213|PMID:26268347|PMID:26323595|PMID:26332594|PMID:26467025|PMID:26503325|PMID:26580448|PMID:26622630|PMID:26681312|PMID:26763786|PMID:26822237|PMID:26845104|PMID:26920352|PMID:26934580|PMID:26957611|PMID:26973240|PMID:27034144|PMID:27057652|PMID:27146957|PMID:27179072|PMID:27311873|PMID:27439424|PMID:27498913|PMID:27527340|PMID:27530247|PMID:27539324|PMID:27617348|PMID:27651169|PMID:27682873|PMID:27730413|PMID:27785399|PMID:27811160|PMID:28052007|PMID:28202063|PMID:28288108|PMID:28388566|PMID:28432847|PMID:2844285|PMID:28454591|PMID:28469506|PMID:28492532|PMID:28503092|PMID:28643803|PMID:28650583|PMID:28724667|PMID:28775317|PMID:28849724|PMID:28873162|PMID:28944243|PMID:28951115|PMID:28973655|PMID:29022557|PMID:29124493|PMID:29294023|PMID:29595810|PMID:29607586|PMID:29616089|PMID:29625052|PMID:29662268|PMID:29684080|PMID:29748190|PMID:29749453|PMID:29790589|PMID:29891534|PMID:29946849|PMID:29949369|PMID:29978187|PMID:30006056|PMID:30042107|PMID:30093976|PMID:30105105|PMID:30185211|PMID:30194449|PMID:30278534|PMID:30338240|PMID:30522901|PMID:30548481|PMID:30877234|PMID:30902965|PMID:30943211|PMID:30946460|PMID:31034483|PMID:31087189|PMID:31132167|PMID:31149315|PMID:31159747|PMID:31337753|PMID:31350093|PMID:31368132|PMID:31383958|PMID:31397861|PMID:31447099|PMID:31453227|PMID:31528828|PMID:31538058|PMID:31620170|PMID:31666924|PMID:31779674|PMID:32106822|PMID:32238909|PMID:32303605|PMID:32671223|PMID:32869749|PMID:33151962|PMID:33219105|PMID:33362715|PMID:33720516|PMID:33840814|PMID:33938902|PMID:34036514|PMID:34109129|PMID:34416425|PMID:34439168|PMID:34566400|PMID:35008334|PMID:35734542|PMID:36281577|PMID:7553625|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7915601|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8187067|PMID:8239848|PMID:8270255|PMID:8493574|PMID:8522307|PMID:8550742|PMID:8592333|PMID:8634692|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8825918|PMID:8825919|PMID:8829648|PMID:8863170|PMID:8956040|PMID:9058738|PMID:9143408|PMID:9156047|PMID:9215674|PMID:9329368|PMID:9398721|PMID:9399847|PMID:9435426|PMID:9452032|PMID:9452106|PMID:9463336|PMID:9536098|PMID:9663592|PMID:9671762|PMID:9681856|PMID:9681858|PMID:9751722|PMID:9770531|PMID:9829911|PMID:9829912|PMID:9880225 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:9008952 Breast Cancer, Familial ISO RGD:737311 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:10567493|PMID:10761708|PMID:11106358|PMID:11739384|PMID:12414898|PMID:19228690|PMID:19906784|PMID:20447124|PMID:22234250|PMID:23990664|PMID:23990666|PMID:24033266|PMID:25157968|PMID:25637381|PMID:25741868|PMID:27527340|PMID:28492532|PMID:28503092|PMID:29790589|PMID:30877234|PMID:7563486|PMID:8634692|PMID:8707293|PMID:8772572|PMID:8956040|PMID:9829911 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:737311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:25516202|PMID:28492532 12218605 VHL von Hippel-Lindau tumor suppressor gene DOID:9970 obesity ISO RGD:737311 D RGD:9068941 20230202 RGD associated with hepatocellular carcinoma;RNA:decreased expression:liver: PMID:31321740|REF_RGD_ID:155882550 12218617 METTL1 methyltransferase 1, tRNA methylguanosine gene DOID:630 genetic disease ISO RGD:1352209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12218617 METTL1 methyltransferase 1, tRNA methylguanosine gene DOID:6846 familial melanoma ISO RGD:1352209 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 12218630 TMEM95 transmembrane protein 95 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1603857 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12218630 TMEM95 transmembrane protein 95 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1603857 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12218630 TMEM95 transmembrane protein 95 gene DOID:1059 intellectual disability ISO RGD:1603857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12218630 TMEM95 transmembrane protein 95 gene DOID:12177 common variable immunodeficiency ISO RGD:1603857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12218630 TMEM95 transmembrane protein 95 gene DOID:2729 dyskeratosis congenita ISO RGD:1603857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12218630 TMEM95 transmembrane protein 95 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1603857 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12218630 TMEM95 transmembrane protein 95 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1603857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12218630 TMEM95 transmembrane protein 95 gene DOID:630 genetic disease ISO RGD:1603857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218644 LOC609637 ubiquitin-conjugating enzyme E2 N-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12218644 LOC609637 ubiquitin-conjugating enzyme E2 N-like gene DOID:12849 autistic disorder ISO RGD:1343621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12218644 LOC609637 ubiquitin-conjugating enzyme E2 N-like gene DOID:630 genetic disease ISO RGD:1343621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218648 TAF12 TATA-box binding protein associated factor 12 gene DOID:630 genetic disease ISO RGD:1348553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218669 LOC611528 protein PET100 homolog, mitochondrial gene DOID:0080490 mucolipidosis type IV ISO RGD:5135069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12218669 LOC611528 protein PET100 homolog, mitochondrial gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:5135069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 12218669 LOC611528 protein PET100 homolog, mitochondrial gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:5135069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex IV deficiency PMID:24462369|PMID:25293719|PMID:25741868|PMID:32313153 12218669 LOC611528 protein PET100 homolog, mitochondrial gene DOID:630 genetic disease ISO RGD:5135069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12218669 LOC611528 protein PET100 homolog, mitochondrial gene DOID:9004872 Congenital Infantile Lactic Acidosis ISO RGD:5135069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital lactic acidosis PMID:25293719|PMID:25741868 12218669 LOC611528 protein PET100 homolog, mitochondrial gene DOID:9006173 Mitochondrial Complex IV Deficiency, Nuclear Type 12 ISO RGD:5135069 D RGD:7240710 20201111 OMIM 12218669 LOC611528 protein PET100 homolog, mitochondrial gene DOID:9006173 Mitochondrial Complex IV Deficiency, Nuclear Type 12 ISO RGD:5135069 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 PMID:17576681|PMID:24462369|PMID:25293719|PMID:25741868|PMID:28492532|PMID:32313153|PMID:9536098 12218669 LOC611528 protein PET100 homolog, mitochondrial gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:5135069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:24462369|PMID:25293719|PMID:25741868|PMID:32313153 12218677 FAM187B family with sequence similarity 187 member B gene DOID:0110222 Brugada syndrome 5 ISO RGD:1603571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12218677 FAM187B family with sequence similarity 187 member B gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12218677 FAM187B family with sequence similarity 187 member B gene DOID:543 dystonia ISO RGD:1603571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12218677 FAM187B family with sequence similarity 187 member B gene DOID:630 genetic disease ISO RGD:1603571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218687 PTPN20 protein tyrosine phosphatase non-receptor type 20 gene DOID:5419 schizophrenia ISO RGD:1353047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12218687 PTPN20 protein tyrosine phosphatase non-receptor type 20 gene DOID:630 genetic disease ISO RGD:1353047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218713 ALDH3A2 aldehyde dehydrogenase 3 family member A2 gene DOID:0050777 Joubert syndrome ISO RGD:737085 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12218713 ALDH3A2 aldehyde dehydrogenase 3 family member A2 gene DOID:0060041 autism spectrum disorder ISO RGD:737085 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12218713 ALDH3A2 aldehyde dehydrogenase 3 family member A2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:737085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12218713 ALDH3A2 aldehyde dehydrogenase 3 family member A2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:737085 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12218713 ALDH3A2 aldehyde dehydrogenase 3 family member A2 gene DOID:12849 autistic disorder ISO RGD:737085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12218713 ALDH3A2 aldehyde dehydrogenase 3 family member A2 gene DOID:14501 Sjogren-Larsson syndrome ISO RGD:737085 D RGD:7240710 20180130 OMIM 12218713 ALDH3A2 aldehyde dehydrogenase 3 family member A2 gene DOID:14501 Sjogren-Larsson syndrome ISO RGD:737085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sjögren-Larsson syndrome PMID:10384396|PMID:10577908|PMID:10792573|PMID:10854114|PMID:11408337|PMID:15241804|PMID:15931689|PMID:16199547|PMID:16536828|PMID:16546179|PMID:16837225|PMID:16903323|PMID:17576681|PMID:17902024|PMID:17971613|PMID:17998529|PMID:18035827|PMID:19124283|PMID:19197545|PMID:19965611|PMID:20049467|PMID:21531120|PMID:21872273|PMID:21968182|PMID:22397046|PMID:23034980|PMID:23450279|PMID:24033266|PMID:25047030|PMID:25532748|PMID:25741868|PMID:25855245|PMID:27717089|PMID:28025403|PMID:28257279|PMID:28471629|PMID:28492532|PMID:29071827|PMID:29130490|PMID:29159939|PMID:29183715|PMID:29704247|PMID:30157790|PMID:30372562|PMID:30925032|PMID:31273323|PMID:31953843|PMID:32005694|PMID:8528251|PMID:9204959|PMID:9250352|PMID:9254849|PMID:9467812|PMID:9536098|PMID:9829906 12218713 ALDH3A2 aldehyde dehydrogenase 3 family member A2 gene DOID:630 genetic disease ISO RGD:737085 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12218713 ALDH3A2 aldehyde dehydrogenase 3 family member A2 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:737085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 12218734 SOCS2 suppressor of cytokine signaling 2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1352815 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:12888825|REF_RGD_ID:2298909 12218734 SOCS2 suppressor of cytokine signaling 2 gene DOID:1380 endometrial cancer ISO RGD:1352815 D RGD:9068941 20200609 RGD DNA:hypermethylated PMID:15159323|REF_RGD_ID:2298926 12218734 SOCS2 suppressor of cytokine signaling 2 gene DOID:3008 invasive ductal carcinoma ISO RGD:1352815 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:12888825|REF_RGD_ID:2298909 12218734 SOCS2 suppressor of cytokine signaling 2 gene DOID:3042 allergic contact dermatitis ISO RGD:1352815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 12218734 SOCS2 suppressor of cytokine signaling 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352815 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35305058 12218734 SOCS2 suppressor of cytokine signaling 2 gene DOID:4001 ovarian carcinoma ISO RGD:1352815 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:15361843|REF_RGD_ID:2298907 12218734 SOCS2 suppressor of cytokine signaling 2 gene DOID:630 genetic disease ISO RGD:1352815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218734 SOCS2 suppressor of cytokine signaling 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1352815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12218734 SOCS2 suppressor of cytokine signaling 2 gene DOID:8986 narcolepsy ISO RGD:1352815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17521418 12218734 SOCS2 suppressor of cytokine signaling 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:69273 D RGD:9068941 20200609 RGD PMID:11723173|REF_RGD_ID:2298928 12218734 SOCS2 suppressor of cytokine signaling 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1352815 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:16707422|REF_RGD_ID:2298925 12218734 SOCS2 suppressor of cytokine signaling 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12218734 SOCS2 suppressor of cytokine signaling 2 gene DOID:9004484 Sepsis ISO RGD:69273 D RGD:9068941 20200609 RGD protein:increased expression:gastrocnemius PMID:12644450|REF_RGD_ID:2298924 12218734 SOCS2 suppressor of cytokine signaling 2 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1352815 D RGD:9068941 20200609 RGD PMID:17651480|REF_RGD_ID:2298902 12218756 MISP mitotic spindle positioning gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1317766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 12218756 MISP mitotic spindle positioning gene DOID:5339 cyclic hematopoiesis ISO RGD:1317766 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12218756 MISP mitotic spindle positioning gene DOID:630 genetic disease ISO RGD:1317766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218765 TSN translin gene DOID:630 genetic disease ISO RGD:1351634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218775 CH25H cholesterol 25-hydroxylase gene DOID:630 genetic disease ISO RGD:1321560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218775 CH25H cholesterol 25-hydroxylase gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1321560 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 12218775 CH25H cholesterol 25-hydroxylase gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1321560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:28492532 12218846 EXT2 exostosin glycosyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1317052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12218846 EXT2 exostosin glycosyltransferase 2 gene DOID:206 hereditary multiple exostoses ISO RGD:1317052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis | ClinVar Annotator: match by term: Multiple osteochondromas PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12218846 EXT2 exostosin glycosyltransferase 2 gene DOID:2394 ovarian cancer ISO RGD:1317052 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532|PMID:28849184 12218846 EXT2 exostosin glycosyltransferase 2 gene DOID:4624 Ollier disease ISO RGD:1317052 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OSTEOCHONDROMATOSIS PMID:25741868|PMID:28492532 12218846 EXT2 exostosin glycosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1317052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10679937|PMID:19810120|PMID:21520333|PMID:25741868|PMID:28492532|PMID:32293802 12218846 EXT2 exostosin glycosyltransferase 2 gene DOID:687 hepatoblastoma ISO RGD:1317052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 12218846 EXT2 exostosin glycosyltransferase 2 gene DOID:9001680 SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS ISO RGD:1317052 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans PMID:25741868 12218846 EXT2 exostosin glycosyltransferase 2 gene DOID:9003693 Multiple Exostoses Type II ISO RGD:1317052 D RGD:7240710 20180130 OMIM 12218846 EXT2 exostosin glycosyltransferase 2 gene DOID:9003693 Multiple Exostoses Type II ISO RGD:1317052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE II | ClinVar Annotator: match by term: Exostoses, multiple, type 2 PMID:10480354|PMID:10671060|PMID:10679937|PMID:10713884|PMID:10750558|PMID:11169766|PMID:11170095|PMID:11432960|PMID:11668521|PMID:12239711|PMID:12490068|PMID:15221792|PMID:15586175|PMID:15796962|PMID:16088908|PMID:16199547|PMID:16283885|PMID:17041877|PMID:17301954|PMID:17576681|PMID:17589361|PMID:18165274|PMID:18373409|PMID:18666861|PMID:18976157|PMID:19309273|PMID:19344451|PMID:19504431|PMID:19810120|PMID:19839753|PMID:20425833|PMID:21520333|PMID:21703028|PMID:22258776|PMID:22382802|PMID:22820392|PMID:23262345|PMID:23439489|PMID:23629877|PMID:24496678|PMID:24532482|PMID:24728327|PMID:24728384|PMID:25230886|PMID:25449079|PMID:25468659|PMID:25591329|PMID:25741868|PMID:25744876|PMID:26246518|PMID:26402641|PMID:26961984|PMID:28166811|PMID:28492532|PMID:28690282|PMID:28849184|PMID:29126381|PMID:29529714|PMID:29625052|PMID:30075207|PMID:30288735|PMID:30334991|PMID:30806661|PMID:30997052|PMID:31030431|PMID:31096510|PMID:32293802|PMID:34070849|PMID:34092239|PMID:8894688|PMID:9326317|PMID:9463333|PMID:9536098 12218846 EXT2 exostosin glycosyltransferase 2 gene DOID:9005285 Osteochondromatosis ISO RGD:1317052 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OSTEOCHONDROMATOSIS PMID:25741868|PMID:28492532 12218846 EXT2 exostosin glycosyltransferase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10679937|PMID:11432960|PMID:17589361|PMID:19344451|PMID:19810120|PMID:24496678|PMID:25741868|PMID:28492532|PMID:8894688|PMID:9463333 12218846 EXT2 exostosin glycosyltransferase 2 gene DOID:9009204 SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME ISO RGD:1317052 D RGD:7240710 20180822 OMIM 12218846 EXT2 exostosin glycosyltransferase 2 gene DOID:9009204 SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME ISO RGD:1317052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizures, scoliosis, and macrocephaly syndrome PMID:10679937|PMID:10713884|PMID:10750558|PMID:11432960|PMID:16199547|PMID:16283885|PMID:17041877|PMID:19344451|PMID:19810120|PMID:23439489|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30075207|PMID:30288735|PMID:30997052|PMID:34092239|PMID:9326317 12218863 SUMF2 sulfatase modifying factor 2 gene DOID:0050441 mucosulfatidosis ISO RGD:1349479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple sulfatase deficiency PMID:12757706 12218863 SUMF2 sulfatase modifying factor 2 gene DOID:0050724 PSPH deficiency ISO RGD:1349479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency PMID:28492532 12218863 SUMF2 sulfatase modifying factor 2 gene DOID:12849 autistic disorder ISO RGD:1349479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12218863 SUMF2 sulfatase modifying factor 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12218863 SUMF2 sulfatase modifying factor 2 gene DOID:630 genetic disease ISO RGD:1349479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218879 RNF2 ring finger protein 2 gene DOID:0080016 spina bifida ISO RGD:1305491 D RGD:9068941 20200609 RGD PMID:20515739|REF_RGD_ID:9491842 12218879 RNF2 ring finger protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1313548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12218879 RNF2 ring finger protein 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1313548 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19585519|REF_RGD_ID:9491843 12218879 RNF2 ring finger protein 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1313549 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19585519|REF_RGD_ID:9491843 12218879 RNF2 ring finger protein 2 gene DOID:630 genetic disease ISO RGD:1313548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218879 RNF2 ring finger protein 2 gene DOID:9000444 LUO-SCHOCH-YAMAMOTO SYNDROME ISO RGD:1313548 D RGD:7240710 20211027 OMIM 12218879 RNF2 ring finger protein 2 gene DOID:9000444 LUO-SCHOCH-YAMAMOTO SYNDROME ISO RGD:1313548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Luo-Schoch-Yamamoto syndrome | ClinVar Annotator: match by term: RNF2-associated neurodevelopmental condition PMID:25741868|PMID:33864376 12218879 RNF2 ring finger protein 2 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:1305491 D RGD:9068941 20200609 RGD PMID:20740046|REF_RGD_ID:9491844 12218879 RNF2 ring finger protein 2 gene DOID:9006190 Chronic Pancreatitis ISO RGD:1313548 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19585519|REF_RGD_ID:9491843 12218879 RNF2 ring finger protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:0050625 biliary tract benign neoplasm disease_progression ISO RGD:737024 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18475301|REF_RGD_ID:2324916 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:0080773 delta beta-thalassemia ISO RGD:737024 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:0111969 immunodeficiency 39 ISO RGD:737024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:10140 dry eye syndrome ISO RGD:62293 D RGD:9068941 20200609 RGD PMID:21283525|PMID:23272068|REF_RGD_ID:7364730|REF_RGD_ID:7364762 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:10140 dry eye syndrome ISO RGD:62293 D RGD:9068941 20220825 MouseDO 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:10140 dry eye syndrome ISO RGD:737024 D RGD:9068941 20200609 RGD PMID:23538614|REF_RGD_ID:7349402 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:10140 dry eye syndrome treatment ISO RGD:62001 D RGD:9068941 20200609 RGD protein:decreased expression:cornea PMID:19415319|REF_RGD_ID:2324954 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:10140 dry eye syndrome treatment ISO RGD:737024 D RGD:9068941 20200609 RGD associated with Graft vs Host Disease PMID:17982500|REF_RGD_ID:7364737 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:10754 otitis media ISO RGD:1616427 D RGD:9068941 20200609 RGD associated with CHARGE Syndrome PMID:22539951|REF_RGD_ID:7349405 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:10754 otitis media ISO RGD:62001 D RGD:9068941 20200609 RGD mRNA:increased expression:ear PMID:11425202|REF_RGD_ID:2324973 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:10808 gastric ulcer ISO RGD:62001 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:stomach PMID:11956390|REF_RGD_ID:2324968 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:10808 gastric ulcer treatment ISO RGD:62001 D RGD:9068941 20200609 RGD PMID:16240224|REF_RGD_ID:7364759 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:62293 D RGD:9068941 20200609 RGD associated with Respiratory Hypersensitivity; protein:increased expression:lung PMID:15130904|REF_RGD_ID:5131205 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:12894 Sjogren's syndrome ISO RGD:737024 D RGD:9068941 20200609 RGD mRNA:decreased expression:conjunctival epithelial cell PMID:18184611|REF_RGD_ID:7364736 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:12895 keratoconjunctivitis sicca ISO RGD:731951 D RGD:9068941 20200609 RGD PMID:14507865|REF_RGD_ID:7349377 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:13550 angle-closure glaucoma ISO RGD:737024 D RGD:9068941 20200609 RGD associated with Cataract;protein:decreased expression:tear PMID:21139981|REF_RGD_ID:7364742 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:737024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:1485 cystic fibrosis ISO RGD:737024 D RGD:9068941 20200609 RGD PMID:17255563|REF_RGD_ID:5131191 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:1679 cystitis ISO RGD:737024 D RGD:9068941 20200609 RGD PMID:17659847|REF_RGD_ID:7349345 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:1686 glaucoma ISO RGD:737024 D RGD:9068941 20200609 RGD protein:increased expression:conjunctival epithelial cell PMID:16809382|REF_RGD_ID:7364743 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:1749 squamous cell carcinoma ISO RGD:737024 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:1793 pancreatic cancer ISO RGD:737024 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:14654947|REF_RGD_ID:2317984 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:1793 pancreatic cancer ISO RGD:737024 D RGD:9068941 20200609 RGD protein:increased glycosylation:serum PMID:19377061|REF_RGD_ID:2325129 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:62001 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung PMID:17590487|REF_RGD_ID:2324962 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:62293 D RGD:9068941 20200609 RGD PMID:14594655|REF_RGD_ID:7349354 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:62293 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:21780541|REF_RGD_ID:7349407 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:737024 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:17698377|REF_RGD_ID:5131204 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:2841 asthma treatment ISO RGD:62293 D RGD:9068941 20200609 RGD PMID:21549818|REF_RGD_ID:7364729 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma ISO RGD:737024 D RGD:9068941 20200609 RGD associated with pancreatic diseases;protein:decreased expression:pancreas PMID:19954814|REF_RGD_ID:2324889 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma ISO RGD:737024 D RGD:9068941 20200609 RGD associated with pancreatic neoplasms;protein:increased expression:pancreas PMID:17708554|REF_RGD_ID:2324887 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma disease_progression ISO RGD:737024 D RGD:9068941 20200609 RGD associated with pancreatic neoplasms; mRNA:increased expression:pancreas PMID:10227724|REF_RGD_ID:2324907 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737024 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:17637221|REF_RGD_ID:4145655 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737024 D RGD:9068941 20200609 RGD protein:increased expression:bronchi PMID:19723147|REF_RGD_ID:5131190 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:62001 D RGD:9068941 20200609 RGD PMID:22282955|REF_RGD_ID:7349406 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737024 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:7657125|REF_RGD_ID:2324986 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:737024 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:10227724|REF_RGD_ID:2324907 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:3770 pulmonary fibrosis ISO RGD:62001 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:14680076|REF_RGD_ID:5131207 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:3770 pulmonary fibrosis ISO RGD:62293 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19154443|REF_RGD_ID:2314537 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:3910 lung adenocarcinoma ISO RGD:737024 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:4481 allergic rhinitis ISO RGD:62001 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nasal cavity epithelium PMID:22972875|REF_RGD_ID:7364746 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:4483 rhinitis ISO RGD:62001 D RGD:9068941 20200609 RGD mRNA:increased expression:nose PMID:20696593|REF_RGD_ID:4145454 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:4483 rhinitis ISO RGD:737024 D RGD:9068941 20200609 RGD PMID:15715404|REF_RGD_ID:7364740 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:4608 common bile duct neoplasm ISO RGD:737024 D RGD:9068941 20200609 RGD protein:altered expression:pancreas PMID:8143972|REF_RGD_ID:2324890 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:4947 cholangiocarcinoma ISO RGD:737024 D RGD:9068941 20200609 RGD mRNA:increased expression:bile duct PMID:11680592|REF_RGD_ID:2324948 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:737024 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14508831|REF_RGD_ID:2324990 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:76 stomach disease treatment ISO RGD:62001 D RGD:9068941 20200609 RGD PMID:23200466|REF_RGD_ID:7364745 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:8463 corneal ulcer ISO RGD:737024 D RGD:9068941 20200609 RGD associated with Hypersensitivity;mRNA:decreased expression:eye PMID:16251127|REF_RGD_ID:7364739 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9000011 Gallbladder Neoplasms ISO RGD:737024 D RGD:9068941 20200609 RGD protein:decreased expression:gallbladder PMID:15260848|REF_RGD_ID:2324651 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9000081 Lymphatic Metastasis ISO RGD:737024 D RGD:9068941 20200609 RGD associated with chloangiocarcinoma;protein:increased expression:bile duct PMID:16842244|REF_RGD_ID:2325168 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9000156 Metaplasia ISO RGD:737024 D RGD:9068941 20200609 RGD associated with Duodenal Diseases PMID:12612884|REF_RGD_ID:7364761 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9000965 Neoplasm Metastasis ISO RGD:737024 D RGD:9068941 20200609 RGD associated with chloangiocarcinoma;protein:increased expression:bile duct PMID:16124042|REF_RGD_ID:2324987 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9001472 Nasal Polyps ISO RGD:737024 D RGD:9068941 20200609 RGD PMID:15715404|REF_RGD_ID:7364740 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9002992 Nematode Infections resistance ISO RGD:62001 D RGD:9068941 20200609 RGD PMID:22269441|REF_RGD_ID:7364747 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9002992 Nematode Infections resistance ISO RGD:62293 D RGD:9068941 20200609 RGD mRNA:increased expression:cecum PMID:20138044|REF_RGD_ID:7349349 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9003470 Picornaviridae Infections ISO RGD:62293 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive PMID:19748999|REF_RGD_ID:4145626 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9003470 Picornaviridae Infections severity ISO RGD:737024 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20525715|REF_RGD_ID:5131431 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:737024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9005941 Rhinosinusitis treatment ISO RGD:62001 D RGD:9068941 20200609 RGD PMID:19389874|PMID:23131200|REF_RGD_ID:7349403|REF_RGD_ID:7364734 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9007425 Diffuse Panbronchiolitis ISO RGD:737024 D RGD:9068941 20200609 RGD protein:decreased expression:bronchiole epithelium PMID:15364771|REF_RGD_ID:7364741 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9008821 Otitis Media with Effusion ISO RGD:1551003 D RGD:9068941 20200609 RGD mRNA:decreased expression:ear PMID:22336013|REF_RGD_ID:7364764 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9008821 Otitis Media with Effusion ISO RGD:737024 D RGD:9068941 20200609 RGD mRNA:increased expression:middle ear PMID:20713760|REF_RGD_ID:7364731 12218892 MUC5AC mucin 5AC, oligomeric mucus/gel-forming gene DOID:9368 keratoconjunctivitis ISO RGD:737024 D RGD:9068941 20200609 RGD mRNA:decreased expression:conjunctival epithelial cell PMID:18782111|REF_RGD_ID:7364735 12218946 TMCC1 transmembrane and coiled-coil domain family 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1349742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12218946 TMCC1 transmembrane and coiled-coil domain family 1 gene DOID:630 genetic disease ISO RGD:1349742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12218946 TMCC1 transmembrane and coiled-coil domain family 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1349742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 12218946 TMCC1 transmembrane and coiled-coil domain family 1 gene DOID:9270 alkaptonuria ISO RGD:1349742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12218972 IL12RB1 interleukin 12 receptor subunit beta 1 gene DOID:0111955 immunodeficiency 27A ISO RGD:1349194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:19460324|PMID:24033266|PMID:25741868|PMID:28492532 12218972 IL12RB1 interleukin 12 receptor subunit beta 1 gene DOID:0111990 immunodeficiency 30 ISO RGD:1349194 D RGD:7240710 20180130 OMIM 12218972 IL12RB1 interleukin 12 receptor subunit beta 1 gene DOID:0111990 immunodeficiency 30 ISO RGD:1349194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency PMID:11313259|PMID:11368122|PMID:11424023|PMID:11992283|PMID:12591909|PMID:12594833|PMID:12830418|PMID:15178580|PMID:15736007|PMID:16088278|PMID:16199547|PMID:16293671|PMID:16418797|PMID:16531420|PMID:17392024|PMID:17576681|PMID:19379268|PMID:19460324|PMID:20213287|PMID:21057261|PMID:21812800|PMID:21905505|PMID:24033266|PMID:24186907|PMID:24678409|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26343451|PMID:26621323|PMID:27141500|PMID:27329137|PMID:28492532|PMID:29025965|PMID:29256176|PMID:29995221|PMID:30715640|PMID:30740107|PMID:30998751|PMID:31158284|PMID:31367980|PMID:32221732|PMID:32888943|PMID:33732252|PMID:34060650|PMID:9536098|PMID:9603732|PMID:9603733 12218972 IL12RB1 interleukin 12 receptor subunit beta 1 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:1349194 D RGD:9068941 20200609 RGD RNA:increased expression:peripheral blood mononuclear cell (human) PMID:23910013|REF_RGD_ID:14700865 12218972 IL12RB1 interleukin 12 receptor subunit beta 1 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:1550152 D RGD:9068941 20200609 RGD RNA:increased expression:peripheral blood mononuclear cell (human) PMID:23910013|REF_RGD_ID:14700865 12218972 IL12RB1 interleukin 12 receptor subunit beta 1 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:620025 D RGD:9068941 20200609 RGD RNA:increased expression:peripheral blood mononuclear cell (human) PMID:23910013|REF_RGD_ID:14700865 12218972 IL12RB1 interleukin 12 receptor subunit beta 1 gene DOID:2316 brain ischemia ISO RGD:1349194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 12218972 IL12RB1 interleukin 12 receptor subunit beta 1 gene DOID:399 tuberculosis ISO RGD:1349194 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:12591909|PMID:28492532|PMID:9603733 12218972 IL12RB1 interleukin 12 receptor subunit beta 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1349194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:11368122|PMID:12591909|PMID:16293671|PMID:16418797|PMID:20213287|PMID:25741868|PMID:28492532 12218972 IL12RB1 interleukin 12 receptor subunit beta 1 gene DOID:630 genetic disease ISO RGD:1349194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11313259|PMID:11424023|PMID:12591909|PMID:16293671|PMID:21057261|PMID:28492532|PMID:31367980 12218972 IL12RB1 interleukin 12 receptor subunit beta 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1349194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12219000 MTRF1 mitochondrial translation release factor 1 gene DOID:630 genetic disease ISO RGD:1352853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219036 SLC11A2 solute carrier family 11 member 2 gene DOID:0050425 restless legs syndrome ISO RGD:737578 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pons, thalamus PMID:21710629|REF_RGD_ID:5688410 12219036 SLC11A2 solute carrier family 11 member 2 gene DOID:0080855 Parkinsonism ISO RGD:3684 D RGD:9068941 20200609 RGD PMID:19011085|PMID:20125122|REF_RGD_ID:5688713|REF_RGD_ID:5688715 12219036 SLC11A2 solute carrier family 11 member 2 gene DOID:0080855 Parkinsonism ISO RGD:737579 D RGD:9068941 20200609 RGD PMID:19011085|REF_RGD_ID:5688713 12219036 SLC11A2 solute carrier family 11 member 2 gene DOID:11758 iron deficiency anemia ISO RGD:3684 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity olfactory epithelium PMID:17116743|REF_RGD_ID:2311409 12219036 SLC11A2 solute carrier family 11 member 2 gene DOID:11758 iron deficiency anemia ISO RGD:737578 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17116712 12219036 SLC11A2 solute carrier family 11 member 2 gene DOID:11759 hypochromic anemia ISO RGD:3684 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G185R (human) PMID:9448300|REF_RGD_ID:729808 12219036 SLC11A2 solute carrier family 11 member 2 gene DOID:11759 hypochromic anemia ISO RGD:737578 D RGD:9068941 20200609 RGD DNA:deletion, missense mutation:cds:428_430delGTG, p.G212V (human) PMID:16439678|REF_RGD_ID:1580430 12219036 SLC11A2 solute carrier family 11 member 2 gene DOID:11759 hypochromic anemia ISO RGD:737579 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G185R (human) PMID:9241278|REF_RGD_ID:9743973 12219036 SLC11A2 solute carrier family 11 member 2 gene DOID:14330 Parkinson's disease ISO RGD:737578 D RGD:9068941 20200609 RGD PMID:19011085|REF_RGD_ID:5688713 12219036 SLC11A2 solute carrier family 11 member 2 gene DOID:14330 Parkinson's disease ISO RGD:737578 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:1254T>C(human) PMID:21777657|REF_RGD_ID:5688403 12219036 SLC11A2 solute carrier family 11 member 2 gene DOID:1724 duodenal ulcer ISO RGD:3684 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:duodenal mucosa PMID:19342511|REF_RGD_ID:11541091 12219036 SLC11A2 solute carrier family 11 member 2 gene DOID:2316 brain ischemia ISO RGD:3684 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:21325818|REF_RGD_ID:5688411 12219036 SLC11A2 solute carrier family 11 member 2 gene DOID:2352 hemochromatosis ISO RGD:737578 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11439223 12219036 SLC11A2 solute carrier family 11 member 2 gene DOID:2355 anemia ISO RGD:737578 D RGD:9068941 20200609 RGD associated with Restless leg syndrome: DNA:SNPs:introns: PMID:17510944|REF_RGD_ID:5688718 12219036 SLC11A2 solute carrier family 11 member 2 gene DOID:332 amyotrophic lateral sclerosis onset ISO RGD:737578 D RGD:9068941 20200609 RGD DNA:SNP: :rs407135 (human) PMID:21276595|REF_RGD_ID:5688710 12219036 SLC11A2 solute carrier family 11 member 2 gene DOID:552 pneumonia ISO RGD:3684 D RGD:9068941 20200609 RGD PMID:21278260|REF_RGD_ID:5688709 12219036 SLC11A2 solute carrier family 11 member 2 gene DOID:630 genetic disease ISO RGD:737578 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12219036 SLC11A2 solute carrier family 11 member 2 gene DOID:9000310 Lung Injury ISO RGD:737579 D RGD:9068941 20200609 RGD PMID:20336479|REF_RGD_ID:5688724 12219036 SLC11A2 solute carrier family 11 member 2 gene DOID:9001631 Hypochromic Microcytic Anemia with Iron Overload ISO RGD:737578 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcytic anemia with liver iron overload PMID:15459009|PMID:16023393|PMID:16091455|PMID:16140868|PMID:16160008|PMID:16439678|PMID:25741868|PMID:28492532|PMID:35457224 12219036 SLC11A2 solute carrier family 11 member 2 gene DOID:9005215 Hypochromic Microcytic Anemia with Iron Overload 1 ISO RGD:737578 D RGD:7240710 20190315 OMIM 12219036 SLC11A2 solute carrier family 11 member 2 gene DOID:9005725 Iron Overload ISO RGD:737578 D RGD:9068941 20200609 RGD DNA:snp:exon:c.1285G>C (human) PMID:15459009|REF_RGD_ID:1580431 12219036 SLC11A2 solute carrier family 11 member 2 gene DOID:9007188 Liver Neoplasms ISO RGD:737578 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12219084 LAMP5 lysosomal associated membrane protein family member 5 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1315920 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 12219084 LAMP5 lysosomal associated membrane protein family member 5 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1315920 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 12219084 LAMP5 lysosomal associated membrane protein family member 5 gene DOID:630 genetic disease ISO RGD:1315920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219084 LAMP5 lysosomal associated membrane protein family member 5 gene DOID:9245 Alagille syndrome ISO RGD:1315920 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532|PMID:32733715 12219094 BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 gene DOID:0111097 Fanconi anemia complementation group J ISO RGD:1315693 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group J PMID:25741868 12219094 BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 gene DOID:2223 platelet storage pool deficiency ISO RGD:1315694 D RGD:9068941 20220825 MouseDO OMIM:185050 12219094 BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1315693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:32565547 12219094 BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 gene DOID:630 genetic disease ISO RGD:1315693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219094 BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 gene DOID:9001110 Hermansky-Pudlak Syndrome 11 ISO RGD:1315693 D RGD:7240710 20210203 OMIM 12219094 BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 gene DOID:9001110 Hermansky-Pudlak Syndrome 11 ISO RGD:1315693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 11 PMID:32565547 12219122 CHST12 carbohydrate sulfotransferase 12 gene DOID:0060041 autism spectrum disorder ISO RGD:1317861 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12219122 CHST12 carbohydrate sulfotransferase 12 gene DOID:10763 hypertension ISO RGD:1308214 D RGD:9068941 20210122 RGD mRNA:decreased expression:renal cortex and medulla (rat) PMID:25001272|REF_RGD_ID:8693701 12219122 CHST12 carbohydrate sulfotransferase 12 gene DOID:630 genetic disease ISO RGD:1317861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219142 CCN5 cellular communication network factor 5 gene DOID:2234 focal epilepsy ISO RGD:1351496 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12219142 CCN5 cellular communication network factor 5 gene DOID:630 genetic disease ISO RGD:1351496 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219142 CCN5 cellular communication network factor 5 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1351496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12219153 FANCL FA complementation group L gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1322885 D RGD:9068941 20200609 RGD PMID:17409780|REF_RGD_ID:11049143 12219153 FANCL FA complementation group L gene DOID:0111082 Fanconi anemia complementation group L ISO RGD:1322885 D RGD:7240710 20180130 OMIM 12219153 FANCL FA complementation group L gene DOID:0111082 Fanconi anemia complementation group L ISO RGD:1322885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group L PMID:16199547|PMID:17576681|PMID:19405097|PMID:21279724|PMID:23613520|PMID:24033266|PMID:25239263|PMID:25659033|PMID:25741868|PMID:25754594|PMID:26149689|PMID:26740942|PMID:26822237|PMID:26822949|PMID:27153395|PMID:27986371|PMID:28104920|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29335925|PMID:29625052|PMID:30306255|PMID:30995915|PMID:31300551|PMID:31513304|PMID:31980526|PMID:32235514|PMID:32420600|PMID:32789750|PMID:34008892|PMID:9536098 12219153 FANCL FA complementation group L gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1322885 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:17576681|PMID:19405097|PMID:21279724|PMID:23613520|PMID:25741868|PMID:26822237|PMID:26822949|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:30306255|PMID:32235514|PMID:9536098 12219153 FANCL FA complementation group L gene DOID:0111766 X-linked VACTERL association ISO RGD:1322885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus PMID:19405097|PMID:23613520|PMID:25754594|PMID:28492532|PMID:29625052 12219153 FANCL FA complementation group L gene DOID:13636 Fanconi anemia ISO RGD:1322885 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:16199547|PMID:17576681|PMID:19405097|PMID:21279724|PMID:23613520|PMID:24033266|PMID:25239263|PMID:25659033|PMID:25741868|PMID:25754594|PMID:26149689|PMID:26822237|PMID:26822949|PMID:27153395|PMID:27986371|PMID:28104920|PMID:28492532|PMID:29335925|PMID:29478780|PMID:29625052|PMID:30995915|PMID:31300551|PMID:31513304|PMID:32789750|PMID:34008892|PMID:9536098 12219153 FANCL FA complementation group L gene DOID:13636 Fanconi anemia ISO RGD:1322885 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:16199547|PMID:17576681|PMID:19405097|PMID:21279724|PMID:23613520|PMID:24033266|PMID:25239263|PMID:25659033|PMID:25741868|PMID:25754594|PMID:26149689|PMID:26822237|PMID:26822949|PMID:27153395|PMID:27986371|PMID:28104920|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29335925|PMID:29416752|PMID:29478780|PMID:29625052|PMID:30306255|PMID:30995915|PMID:31300551|PMID:31513304|PMID:31942411|PMID:31980526|PMID:32008151|PMID:32235514|PMID:32420600|PMID:32789750|PMID:34008892|PMID:34647594|PMID:9536098 12219153 FANCL FA complementation group L gene DOID:13636 Fanconi anemia ISO RGD:1322885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:12973351|PMID:16199547|PMID:17576681|PMID:17938197|PMID:19111657|PMID:19405097|PMID:21279724|PMID:22720145|PMID:23613520|PMID:24033266|PMID:24389026|PMID:25239263|PMID:25659033|PMID:25741868|PMID:25754594|PMID:26149689|PMID:26740942|PMID:26822237|PMID:26822949|PMID:27153395|PMID:27986371|PMID:28104920|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29335925|PMID:29416752|PMID:29478780|PMID:29625052|PMID:30306255|PMID:30995915|PMID:31300551|PMID:31513304|PMID:31942411|PMID:31980526|PMID:32008151|PMID:32235514|PMID:32420600|PMID:32789750|PMID:34008892|PMID:34647594|PMID:9536098 12219153 FANCL FA complementation group L gene DOID:14450 46 XX gonadal dysgenesis ISO RGD:1618380 D RGD:9068941 20220825 MouseDO OMIM:233300 | OMIM:278850 | OMIM:300833 | OMIM:400045 | OMIM:611812 | OMIM:614324 12219153 FANCL FA complementation group L gene DOID:14679 VACTERL association ISO RGD:1322885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: VATER association PMID:19405097|PMID:23613520|PMID:25754594|PMID:28492532 12219153 FANCL FA complementation group L gene DOID:5426 primary ovarian insufficiency ISO RGD:1322885 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:19405097|PMID:23613520|PMID:24033266|PMID:25239263|PMID:25659033|PMID:25741868|PMID:27153395|PMID:28104920|PMID:28492532|PMID:31980526 12219153 FANCL FA complementation group L gene DOID:630 genetic disease ISO RGD:1322885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12219177 SHISAL1 shisa like 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:2303456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12219177 SHISAL1 shisa like 1 gene DOID:1059 intellectual disability ISO RGD:2303456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12219187 RYR3 ryanodine receptor 3 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:69015 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:28492532 12219187 RYR3 ryanodine receptor 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:69015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12219187 RYR3 ryanodine receptor 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:69015 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy PMID:28492532 12219187 RYR3 ryanodine receptor 3 gene DOID:13938 amenorrhea ISO RGD:69015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12219187 RYR3 ryanodine receptor 3 gene DOID:1826 epilepsy ISO RGD:69015 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12219187 RYR3 ryanodine receptor 3 gene DOID:2717 Bloom syndrome ISO RGD:69015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12219187 RYR3 ryanodine receptor 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:69015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868|PMID:28492532 12219187 RYR3 ryanodine receptor 3 gene DOID:630 genetic disease ISO RGD:69015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10664581|PMID:25741868|PMID:28492532 12219187 RYR3 ryanodine receptor 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:69015 D RGD:9068941 20230128 RGD DNA:SNP:3'UTR:rs1044129(human) PMID:26309413|REF_RGD_ID:155882454 12219187 RYR3 ryanodine receptor 3 gene DOID:9001793 Generalized Epilepsy ISO RGD:69015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:25262651|PMID:25640679|PMID:25741868|PMID:28492532|PMID:29498452|PMID:31230720|PMID:9536098 12219187 RYR3 ryanodine receptor 3 gene DOID:9006540 Congenital Myopathy 20 ISO RGD:69015 D RGD:7240710 20230505 OMIM 12219187 RYR3 ryanodine receptor 3 gene DOID:9006540 Congenital Myopathy 20 ISO RGD:69015 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital myopathy 20 PMID:28492532|PMID:29498452|PMID:31230720 12219187 RYR3 ryanodine receptor 3 gene DOID:9006836 Contracture ISO RGD:69015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Contractures PMID:28492532|PMID:29498452|PMID:31230720 12219187 RYR3 ryanodine receptor 3 gene DOID:9008386 Hydrops Fetalis ISO RGD:69015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrops fetalis PMID:25741868 12219187 RYR3 ryanodine receptor 3 gene DOID:9256 colorectal cancer ISO RGD:69015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12219187 RYR3 ryanodine receptor 3 gene DOID:9256 colorectal cancer ISO RGD:69015 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:730879 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:730879 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:10652 Alzheimer's disease ISO RGD:1553329 D RGD:9068941 20211217 RGD PMID:16444595|REF_RGD_ID:6480619 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:10652 Alzheimer's disease ISO RGD:730879 D RGD:9068941 20211217 RGD PMID:19619132|REF_RGD_ID:6480534 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:10652 Alzheimer's disease ISO RGD:730879 D RGD:9068941 20211217 RGD mRNA:decreased expression:brain PMID:1464312|REF_RGD_ID:6480485 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:10652 Alzheimer's disease ISO RGD:730879 D RGD:9068941 20211217 RGD mRNA:increased expression:brain PMID:10595827|REF_RGD_ID:9685805 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:11054 urinary bladder cancer ISO RGD:730879 D RGD:9068941 20211217 CTD CTD Direct Evidence: marker/mechanism PMID:16854967 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:11394 adult respiratory distress syndrome ISO RGD:730879 D RGD:9068941 20211217 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:11832 visual epilepsy treatment ISO RGD:621252 D RGD:9068941 20211217 RGD PMID:23266720|REF_RGD_ID:9685809 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:1459 hypothyroidism ISO RGD:621252 D RGD:9068941 20211217 RGD mRNA:increased expression:brain PMID:10407136|REF_RGD_ID:9685800 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:730879 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:224 transient cerebral ischemia ISO RGD:621252 D RGD:9068941 20211217 RGD mRNA, protein:increased expression:brain PMID:10069533|REF_RGD_ID:9685804 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:231 motor neuron disease ISO RGD:621252 D RGD:9068941 20211217 RGD PMID:16382788|REF_RGD_ID:6480623 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:2468 psychotic disorder ISO RGD:730879 D RGD:9068941 20211217 RGD mRNA: increased expression: brain PMID:18992145|REF_RGD_ID:6480540 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1553329 D RGD:9068941 20211217 RGD PMID:12388585|PMID:17097207|REF_RGD_ID:6480495|REF_RGD_ID:6480627 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:730879 D RGD:9068941 20211217 RGD PMID:12417341|REF_RGD_ID:6480625 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:3525 middle cerebral artery infarction ISO RGD:621252 D RGD:9068941 20211217 RGD protein:decreased expression:brain PMID:8869568|REF_RGD_ID:9685807 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730879 D RGD:9068941 20211217 CTD CTD Direct Evidence: marker/mechanism PMID:17043644 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:4752 multiple system atrophy ISO RGD:730879 D RGD:9068941 20211217 RGD protein: increased expression: visual cortex PMID:20039155|REF_RGD_ID:6480516 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:5154 borna disease ISO RGD:621252 D RGD:9068941 20211217 RGD PMID:16612977|REF_RGD_ID:2289373 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:571 median neuropathy treatment ISO RGD:621252 D RGD:9068941 20211217 RGD PMID:22253198|REF_RGD_ID:6483815 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:630 genetic disease ISO RGD:730879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:9000998 Brain Injuries ISO RGD:621252 D RGD:9068941 20211217 RGD PMID:10218634|PMID:10595827|REF_RGD_ID:9685803|REF_RGD_ID:9685805 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:9000998 Brain Injuries treatment ISO RGD:621252 D RGD:9068941 20211217 RGD PMID:16314047|REF_RGD_ID:6480628 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:9001191 Cadmium Poisoning ISO RGD:1553329 D RGD:9068941 20211217 RGD PMID:20371971|REF_RGD_ID:6480494 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1553329 D RGD:9068941 20211217 RGD PMID:19799968|REF_RGD_ID:6480520 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1553329 D RGD:9068941 20211217 RGD mRNA:increased expression:brain (mouse) PMID:19619133|REF_RGD_ID:6484112 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:9004001 Facial Nerve Injuries treatment ISO RGD:621252 D RGD:9068941 20211217 RGD PMID:14625437|REF_RGD_ID:9685806 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:9004009 Reperfusion Injury ISO RGD:1553329 D RGD:9068941 20211217 RGD PMID:19635467|REF_RGD_ID:6480529 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730879 D RGD:9068941 20211217 CTD CTD Direct Evidence: marker/mechanism PMID:23794209 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:9005930 Endotoxemia ISO RGD:621252 D RGD:9068941 20211217 RGD PMID:12135776|REF_RGD_ID:10412330 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:9007480 Hyperoxia ISO RGD:621252 D RGD:9068941 20211217 RGD PMID:15680347|REF_RGD_ID:9686051 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:9008939 Breast Neoplasms ISO RGD:730879 D RGD:9068941 20211217 CTD CTD Direct Evidence: marker/mechanism PMID:21170156 12219312 MT-III transcription initiation factor TFIID subunit 4 gene DOID:9970 obesity ISO RGD:1553329 D RGD:9068941 20211217 RGD PMID:21726645|REF_RGD_ID:6480475 12219312 Mt3 metallothionein 3 gene DOID:8466 retinal degeneration ISO RGD:1553329 D RGD:9068941 20211217 RGD mRNA:increased expression:retina PMID:23132798|REF_RGD_ID:10412646 12219339 DPRX divergent-paired related homeobox gene DOID:630 genetic disease ISO RGD:1604883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219339 DPRX divergent-paired related homeobox gene DOID:9007661 Dwarfism ISO RGD:1604883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12219345 BAG6 BAG cochaperone 6 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:733092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia PMID:31474318 12219345 BAG6 BAG cochaperone 6 gene DOID:0050553 JMP syndrome ISO RGD:733092 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12219345 BAG6 BAG cochaperone 6 gene DOID:11372 megacolon ISO RGD:733092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12219345 BAG6 BAG cochaperone 6 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:733092 D RGD:9068941 20200609 RGD DNA:SNP: :rs3117582(human) PMID:25884493|REF_RGD_ID:14390136 12219345 BAG6 BAG cochaperone 6 gene DOID:630 genetic disease ISO RGD:733092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219345 BAG6 BAG cochaperone 6 gene DOID:8398 osteoarthritis susceptibility ISO RGD:733092 D RGD:9068941 20200609 RGD DNA:SNP: :rs3117582(human) PMID:25231575|REF_RGD_ID:14390133 12219345 BAG6 BAG cochaperone 6 gene DOID:9004283 Transplant Rejection susceptibility ISO RGD:733092 D RGD:9068941 20200609 RGD DNA:haplotype: :rs10484558(human) PMID:25111513|REF_RGD_ID:14390152 12219345 BAG6 BAG cochaperone 6 gene DOID:9253 gastrointestinal stromal tumor disease_progression ISO RGD:733092 D RGD:9068941 20200609 RGD PMID:28197361|REF_RGD_ID:14390153 12219398 PRMT9 protein arginine methyltransferase 9 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1601836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 12219398 PRMT9 protein arginine methyltransferase 9 gene DOID:630 genetic disease ISO RGD:1601836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219398 PRMT9 protein arginine methyltransferase 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868 12219417 PEPD peptidase D gene DOID:0050117 disease by infectious agent ISO RGD:1354493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16470701 12219417 PEPD peptidase D gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1354493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12219417 PEPD peptidase D gene DOID:0111540 prolidase deficiency ISO RGD:1354493 D RGD:7240710 20180130 OMIM 12219417 PEPD peptidase D gene DOID:0111540 prolidase deficiency ISO RGD:1354493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Prolidase deficiency PMID:10721675|PMID:12384772|PMID:15309682|PMID:16199547|PMID:16470701|PMID:1688567|PMID:17142620|PMID:17576681|PMID:19308961|PMID:1972707|PMID:2010534|PMID:23516557|PMID:2365824|PMID:24033266|PMID:25460580|PMID:25741868|PMID:27067078|PMID:28062424|PMID:28492532|PMID:29943458|PMID:33877262|PMID:6637477|PMID:8198124|PMID:8900231|PMID:9536098 12219417 PEPD peptidase D gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:11075 D RGD:9068941 20220825 MouseDO 12219417 PEPD peptidase D gene DOID:1579 respiratory system disease ISO RGD:1354493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16470701 12219417 PEPD peptidase D gene DOID:630 genetic disease ISO RGD:1354493 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12219417 PEPD peptidase D gene DOID:8549 chronic ulcer of skin ISO RGD:1354493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16470701 12219417 PEPD peptidase D gene DOID:9002720 Splenomegaly ISO RGD:1354493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16470701 12219417 PEPD peptidase D gene DOID:9005292 Organophosphate Poisoning ISO RGD:1354493 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22982776 12219417 PEPD peptidase D gene DOID:9005369 Hepatomegaly ISO RGD:1354493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16470701 12219417 PEPD peptidase D gene DOID:9008086 Developmental Disabilities ISO RGD:1354493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28492532 12219417 PEPD peptidase D gene DOID:9352 type 2 diabetes mellitus ISO RGD:1354493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158537 12219440 DIABLO diablo IAP-binding mitochondrial protein gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:1322043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA PMID:25741868 12219440 DIABLO diablo IAP-binding mitochondrial protein gene DOID:0110585 autosomal dominant nonsyndromic deafness 64 ISO RGD:1322043 D RGD:7240710 20180130 OMIM 12219440 DIABLO diablo IAP-binding mitochondrial protein gene DOID:0110585 autosomal dominant nonsyndromic deafness 64 ISO RGD:1322043 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 64 PMID:21722859|PMID:25741868 12219440 DIABLO diablo IAP-binding mitochondrial protein gene DOID:12858 Huntington's disease ISO RGD:1322043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12930891 12219440 DIABLO diablo IAP-binding mitochondrial protein gene DOID:2316 brain ischemia ISO RGD:1322043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11756504 12219440 DIABLO diablo IAP-binding mitochondrial protein gene DOID:3908 lung non-small cell carcinoma ISO RGD:1322043 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:16231180|REF_RGD_ID:13434909 12219440 DIABLO diablo IAP-binding mitochondrial protein gene DOID:630 genetic disease ISO RGD:1322043 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266 12219440 DIABLO diablo IAP-binding mitochondrial protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322043 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17718901 12219440 DIABLO diablo IAP-binding mitochondrial protein gene DOID:9004538 Hearing Loss ISO RGD:1322043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386 12219440 DIABLO diablo IAP-binding mitochondrial protein gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1322043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 12219440 DIABLO diablo IAP-binding mitochondrial protein gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1322043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14998631 12219450 HPGDS hematopoietic prostaglandin D synthase gene DOID:409 liver disease ISO RGD:732845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12219450 HPGDS hematopoietic prostaglandin D synthase gene DOID:630 genetic disease ISO RGD:732845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219450 HPGDS hematopoietic prostaglandin D synthase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12219450 HPGDS hematopoietic prostaglandin D synthase gene DOID:9002265 Kidney Neoplasms ISO RGD:732845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 12219450 HPGDS hematopoietic prostaglandin D synthase gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:732845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23666239 12219460 MAP3K20 mitogen-activated protein kinase kinase kinase 20 gene DOID:0090020 split hand-foot malformation ISO RGD:1601997 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SPLIT-HAND DEFORMITY PMID:26755636 12219460 MAP3K20 mitogen-activated protein kinase kinase kinase 20 gene DOID:0090021 split hand-foot malformation 1 ISO RGD:1601997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Split-hand/foot malformation 1 PMID:26755636 12219460 MAP3K20 mitogen-activated protein kinase kinase kinase 20 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1601997 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12219460 MAP3K20 mitogen-activated protein kinase kinase kinase 20 gene DOID:0111221 centronuclear myopathy 6 with fiber-type disproportion ISO RGD:1601997 D RGD:7240710 20190315 OMIM 12219460 MAP3K20 mitogen-activated protein kinase kinase kinase 20 gene DOID:0111221 centronuclear myopathy 6 with fiber-type disproportion ISO RGD:1601997 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 6, with fiber-type disproportion PMID:16760198|PMID:25741868|PMID:27816943|PMID:28492532 12219460 MAP3K20 mitogen-activated protein kinase kinase kinase 20 gene DOID:630 genetic disease ISO RGD:1601997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12219460 MAP3K20 mitogen-activated protein kinase kinase kinase 20 gene DOID:9008338 Split-Foot Malformation with Mesoaxial Polydactyly ISO RGD:1601997 D RGD:7240710 20190315 OMIM 12219460 MAP3K20 mitogen-activated protein kinase kinase kinase 20 gene DOID:9008338 Split-Foot Malformation with Mesoaxial Polydactyly ISO RGD:1601997 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Split-foot malformation with mesoaxial polydactyly PMID:25741868|PMID:26755636|PMID:28492532 12219493 LRRC8B leucine rich repeat containing 8 VRAC subunit B gene DOID:630 genetic disease ISO RGD:1606820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219502 ZNF24 zinc finger protein 24 gene DOID:1059 intellectual disability ISO RGD:1344102 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12219502 ZNF24 zinc finger protein 24 gene DOID:630 genetic disease ISO RGD:1344102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219514 ZNF830 zinc finger protein 830 gene DOID:0080600 COVID-19 ISO RGD:1605313 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12219514 ZNF830 zinc finger protein 830 gene DOID:630 genetic disease ISO RGD:1605313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219514 ZNF830 zinc finger protein 830 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12219519 B3GAT2 beta-1,3-glucuronyltransferase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348026 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12219519 B3GAT2 beta-1,3-glucuronyltransferase 2 gene DOID:5419 schizophrenia susceptibility ISO RGD:1348026 D RGD:9068941 20200609 RGD DNA:SNP: :rs2460691, rrs1094527(human) PMID:20950796|REF_RGD_ID:14390078 12219519 B3GAT2 beta-1,3-glucuronyltransferase 2 gene DOID:630 genetic disease ISO RGD:1348026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219519 B3GAT2 beta-1,3-glucuronyltransferase 2 gene DOID:9003505 Venous Thromboembolism ISO RGD:1348026 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1304029,rs2748331(human) PMID:28011674|REF_RGD_ID:14390077 12219519 B3GAT2 beta-1,3-glucuronyltransferase 2 gene DOID:9206 Barrett's esophagus ISO RGD:1348026 D RGD:9068941 20200609 RGD DNA:hypermethylation:esophageal squamous epithelium PMID:26545406|REF_RGD_ID:11552890 12219525 KCNU1 potassium calcium-activated channel subfamily U member 1 gene DOID:630 genetic disease ISO RGD:1348220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219525 KCNU1 potassium calcium-activated channel subfamily U member 1 gene DOID:9003192 Spermatogenic Failure 79 ISO RGD:1348220 D RGD:7240710 20230125 OMIM 12219525 KCNU1 potassium calcium-activated channel subfamily U member 1 gene DOID:9003192 Spermatogenic Failure 79 ISO RGD:1348220 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 79 PMID:34980136|PMID:35551387 12219525 KCNU1 potassium calcium-activated channel subfamily U member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 12219557 LRRTM4 leucine rich repeat transmembrane neuronal 4 gene DOID:630 genetic disease ISO RGD:1352645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219573 PYCR1 pyrroline-5-carboxylate reductase 1 gene DOID:0070137 autosomal recessive cutis laxa type IIB ISO RGD:1317303 D RGD:7240710 20180130 OMIM 12219573 PYCR1 pyrroline-5-carboxylate reductase 1 gene DOID:0070137 autosomal recessive cutis laxa type IIB ISO RGD:1317303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive cutis laxa type 2B | ClinVar Annotator: match by term: CUTIS LAXA WITH PROGEROID FEATURES PMID:11424136|PMID:16045708|PMID:18304158|PMID:18348262|PMID:19576563|PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:25741869|PMID:25865492|PMID:26516448|PMID:28294978|PMID:28492532|PMID:28499588|PMID:30450527|PMID:32860008|PMID:33125268 12219573 PYCR1 pyrroline-5-carboxylate reductase 1 gene DOID:0070138 autosomal recessive cutis laxa type IIIB ISO RGD:1317303 D RGD:7240710 20180130 OMIM 12219573 PYCR1 pyrroline-5-carboxylate reductase 1 gene DOID:0070138 autosomal recessive cutis laxa type IIIB ISO RGD:1317303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DE BARSY SYNDROME B PMID:16233902|PMID:18348262|PMID:19648921|PMID:21567914|PMID:22052856|PMID:23406396|PMID:24035636|PMID:25741868|PMID:28492532|PMID:30138938|PMID:30450527|PMID:4076251 12219573 PYCR1 pyrroline-5-carboxylate reductase 1 gene DOID:0080600 COVID-19 ISO RGD:1317303 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12219573 PYCR1 pyrroline-5-carboxylate reductase 1 gene DOID:0081333 Wiedemann-Rautenstrauch syndrome ISO RGD:1317303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome PMID:16199547|PMID:16233902|PMID:18348262|PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:28492532|PMID:30450527|PMID:32860008|PMID:4076251 12219573 PYCR1 pyrroline-5-carboxylate reductase 1 gene DOID:10907 microcephaly ISO RGD:1317303 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:21739576|PMID:24913064|PMID:25741868|PMID:28492532 12219573 PYCR1 pyrroline-5-carboxylate reductase 1 gene DOID:3144 cutis laxa ISO RGD:1317303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:16199547|PMID:16233902|PMID:18304158|PMID:19576563|PMID:19648921|PMID:21739576|PMID:21834030|PMID:23963297|PMID:24035636|PMID:24913064|PMID:25741868|PMID:25741869|PMID:25865492|PMID:26516448|PMID:28294978|PMID:28492532|PMID:30138938|PMID:30450527|PMID:33125268 12219573 PYCR1 pyrroline-5-carboxylate reductase 1 gene DOID:3911 progeria ISO RGD:1317303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19648921 12219573 PYCR1 pyrroline-5-carboxylate reductase 1 gene DOID:630 genetic disease ISO RGD:1317303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:16233902|PMID:18304158|PMID:19576563|PMID:19648921|PMID:24035636|PMID:25741868|PMID:25741869|PMID:26516448|PMID:28294978|PMID:28492532|PMID:30138938|PMID:30450527|PMID:33125268|PMID:4076251 12219573 PYCR1 pyrroline-5-carboxylate reductase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12219573 PYCR1 pyrroline-5-carboxylate reductase 1 gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:1317303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, recessive 12219585 CHAF1A chromatin assembly factor 1 subunit A gene DOID:13938 amenorrhea ISO RGD:1353205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12219585 CHAF1A chromatin assembly factor 1 subunit A gene DOID:219 colon cancer ISO RGD:1353205 D RGD:9068941 20200609 RGD PMID:24845563|REF_RGD_ID:9587457 12219585 CHAF1A chromatin assembly factor 1 subunit A gene DOID:219 colon cancer disease_progression ISO RGD:1353205 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:colonic mucosa: PMID:24845563|REF_RGD_ID:9587457 12219585 CHAF1A chromatin assembly factor 1 subunit A gene DOID:3070 high grade glioma susceptibility ISO RGD:1353205 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs243356(human) PMID:18048407|REF_RGD_ID:9587459 12219585 CHAF1A chromatin assembly factor 1 subunit A gene DOID:403 mouth disease ISO RGD:1353205 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 12219585 CHAF1A chromatin assembly factor 1 subunit A gene DOID:630 genetic disease ISO RGD:1353205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219585 CHAF1A chromatin assembly factor 1 subunit A gene DOID:769 neuroblastoma ISO RGD:1353205 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:24335960|REF_RGD_ID:9587458 12219585 CHAF1A chromatin assembly factor 1 subunit A gene DOID:769 neuroblastoma disease_progression ISO RGD:1353205 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:24335960|REF_RGD_ID:9587458 12219585 CHAF1A chromatin assembly factor 1 subunit A gene DOID:9074 systemic lupus erythematosus ISO RGD:1353205 D RGD:9068941 20200609 RGD PMID:24836587|REF_RGD_ID:9587742 12219604 ADARB1 adenosine deaminase RNA specific B1 gene DOID:0050888 syndromic intellectual disability ISO RGD:732582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:32220291 12219604 ADARB1 adenosine deaminase RNA specific B1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:732582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12219604 ADARB1 adenosine deaminase RNA specific B1 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:732582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 12219604 ADARB1 adenosine deaminase RNA specific B1 gene DOID:0110266 cataract 9 multiple types ISO RGD:732582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12219604 ADARB1 adenosine deaminase RNA specific B1 gene DOID:10907 microcephaly ISO RGD:732582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12219604 ADARB1 adenosine deaminase RNA specific B1 gene DOID:11612 polycystic ovary syndrome ISO RGD:732582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12219604 ADARB1 adenosine deaminase RNA specific B1 gene DOID:11832 visual epilepsy ISO RGD:10082 D RGD:9068941 20200609 RGD PMID:10894545|REF_RGD_ID:1300255 12219604 ADARB1 adenosine deaminase RNA specific B1 gene DOID:12849 autistic disorder ISO RGD:732582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12219604 ADARB1 adenosine deaminase RNA specific B1 gene DOID:224 transient cerebral ischemia ISO RGD:2033 D RGD:9068941 20200609 RGD PMID:16504947|REF_RGD_ID:10755337 12219604 ADARB1 adenosine deaminase RNA specific B1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:10082 D RGD:9068941 20220825 MouseDO 12219604 ADARB1 adenosine deaminase RNA specific B1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732582 D RGD:9068941 20200609 RGD PMID:20372915|REF_RGD_ID:10755336 12219604 ADARB1 adenosine deaminase RNA specific B1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732582 D RGD:9068941 20200609 RGD mRNA:decreased expression:motor neuron: PMID:22226999|REF_RGD_ID:13432092 12219604 ADARB1 adenosine deaminase RNA specific B1 gene DOID:630 genetic disease ISO RGD:732582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219604 ADARB1 adenosine deaminase RNA specific B1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:732582 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12219604 ADARB1 adenosine deaminase RNA specific B1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2033 D RGD:9068941 20200609 RGD PMID:20456005|REF_RGD_ID:10755338 12219604 ADARB1 adenosine deaminase RNA specific B1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12219604 ADARB1 adenosine deaminase RNA specific B1 gene DOID:9008601 Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures ISO RGD:732582 D RGD:7240710 20200617 OMIM 12219604 ADARB1 adenosine deaminase RNA specific B1 gene DOID:9008601 Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures ISO RGD:732582 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures PMID:25741868|PMID:32220291|PMID:32719099 12219604 ADARB1 adenosine deaminase RNA specific B1 gene DOID:9263 homocystinuria ISO RGD:732582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12219604 ADARB1 adenosine deaminase RNA specific B1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:732582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12219604 ADARB1 adenosine deaminase RNA specific B1 gene DOID:9970 obesity ISO RGD:2033 D RGD:9068941 20200609 RGD associated with Hyperphagia PMID:17567573|REF_RGD_ID:10450894 12219630 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:0050871 fibroma ISO RGD:1346318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12973667|PMID:14508707 12219630 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:0050871 fibroma susceptibility ISO RGD:1346318 D RGD:9068941 20200609 RGD PMID:14508707|REF_RGD_ID:1599125 12219630 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:0111445 progressive myoclonus epilepsy 10 ISO RGD:1346318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Lafora body disease PMID:28492532 12219630 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:0111669 hyaline fibromatosis syndrome ISO RGD:1346318 D RGD:7240710 20180130 OMIM 12219630 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:0111669 hyaline fibromatosis syndrome ISO RGD:1346318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyaline fibromatosis syndrome PMID:12973667|PMID:14508707|PMID:15725249|PMID:20331448|PMID:22383261|PMID:23386947|PMID:24088041|PMID:25741868|PMID:26335786|PMID:26633545|PMID:28492532|PMID:32860008 12219630 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:11476 osteoporosis ISO RGD:1346318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12973667 12219630 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:3529 central core disease ISO RGD:1346318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:25741868 12219630 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:5338 gingival hypertrophy ISO RGD:1346318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12973667|PMID:14508707 12219630 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1346318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219630 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:7147 ankylosing spondylitis ISO RGD:1346318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062062|PMID:21743469 12219630 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:7427 anthrax disease ISO RGD:1561294 D RGD:9068941 20200609 RGD PMID:17054395|REF_RGD_ID:1599126 12219630 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1346318 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12219630 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 12219630 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:9006081 Osteolysis ISO RGD:1346318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12973667 12219630 ANTXR2 ANTXR cell adhesion molecule 2 gene DOID:9006836 Contracture ISO RGD:1346318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12973667|PMID:14508707 12219657 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:0050770 polycystic liver disease ISO RGD:1353787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 12219657 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:0080322 polycystic kidney disease ISO RGD:1353787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:10405208|PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:17699277|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19158373|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20408813|PMID:20881056|PMID:21115670|PMID:21551026|PMID:22008521|PMID:22114106|PMID:22383692|PMID:22508176|PMID:22797899|PMID:22863349|PMID:22995991|PMID:23300259|PMID:23376035|PMID:24374109|PMID:24658975|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25741868|PMID:26150605|PMID:26453610|PMID:26467025|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27165007|PMID:27366664|PMID:27401137|PMID:27499327|PMID:27782177|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:29338003|PMID:29378535|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30369598|PMID:30639418|PMID:30820006|PMID:31317121|PMID:31488014|PMID:31514750|PMID:31740684|PMID:32332171|PMID:32816041|PMID:32970388|PMID:33095447|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33964006|PMID:34101167|PMID:35778421|PMID:9326320|PMID:9402976|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210 12219657 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:0110859 polycystic kidney disease 2 ISO RGD:1353787 D RGD:7240710 20180418 OMIM 12219657 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:0110859 polycystic kidney disease 2 ISO RGD:1353787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 2 PMID:10405208|PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10648666|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:17699277|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19158373|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20408813|PMID:20881056|PMID:20950398|PMID:21115670|PMID:21551026|PMID:21719175|PMID:22008521|PMID:22034641|PMID:22114106|PMID:22185115|PMID:22383692|PMID:22508176|PMID:22797899|PMID:22863349|PMID:22995991|PMID:23300259|PMID:23376035|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25149526|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25741868|PMID:25741894|PMID:25741902|PMID:26150605|PMID:26453610|PMID:26467025|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27165007|PMID:27366664|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27782177|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29321346|PMID:29338003|PMID:29378535|PMID:29520754|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30369598|PMID:30639418|PMID:30816285|PMID:30820006|PMID:30989420|PMID:31317121|PMID:31488014|PMID:31514750|PMID:31740684|PMID:31948117|PMID:31979107|PMID:32332171|PMID:32384474|PMID:32457805|PMID:32816041|PMID:32970388|PMID:33095447|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33964006|PMID:34008892|PMID:34101167|PMID:35005812|PMID:35778421|PMID:8650545|PMID:9175744|PMID:9326320|PMID:9402976|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210 12219657 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1353787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:25741868 12219657 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:0111002 Joubert syndrome 7 ISO RGD:1353787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 7 PMID:19936001|PMID:25741868|PMID:28492532 12219657 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:1353787 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:12842373|REF_RGD_ID:1580867 12219657 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:12215 oligohydramnios ISO RGD:1353787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: anhydramnios PMID:25741868|PMID:35005812 12219657 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:1289 neurodegenerative disease ISO RGD:1353787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25013951 12219657 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:14323 Marfan syndrome ISO RGD:1353787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868 12219657 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:178 vascular disease ISO RGD:1353787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25013951 12219657 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:3021 acute kidney failure ISO RGD:1559992 D RGD:9068941 20200609 RGD protein:altered localization PMID:12089381|REF_RGD_ID:7175293 12219657 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:5679 retinal disease ISO RGD:1353787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25013951 12219657 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:630 genetic disease ISO RGD:1353787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10411676|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11968093|PMID:12707387|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16540757|PMID:17100995|PMID:17576681|PMID:17582161|PMID:18837007|PMID:22383692|PMID:22863349|PMID:23300259|PMID:25574838|PMID:25741868|PMID:26467025|PMID:26692149|PMID:28356211|PMID:28492532|PMID:29529603|PMID:30333007|PMID:30820006|PMID:31317121|PMID:31740684|PMID:32332171|PMID:32457805|PMID:32816041|PMID:33437033|PMID:33454723|PMID:33532864|PMID:34101167|PMID:35778421|PMID:9326320|PMID:9402976|PMID:9536098|PMID:9573526 12219657 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:8466 retinal degeneration ISO RGD:1353787 D RGD:9068941 20200609 RGD PMID:16943309|REF_RGD_ID:13524568 12219657 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1353787 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10648666|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20881056|PMID:21115670|PMID:21551026|PMID:22008521|PMID:22185115|PMID:22383692|PMID:22508176|PMID:22863349|PMID:22995991|PMID:23300259|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25149526|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29321346|PMID:29338003|PMID:29378535|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30816285|PMID:31740684|PMID:31948117|PMID:31979107|PMID:32384474|PMID:32457805|PMID:32970388|PMID:33095447|PMID:33532864|PMID:33569422|PMID:33964006|PMID:34101167|PMID:8650545|PMID:9326320|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210 12219657 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1353787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10648666|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19158373|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20881056|PMID:20950398|PMID:21115670|PMID:21551026|PMID:22008521|PMID:22034641|PMID:22114106|PMID:22185115|PMID:22383692|PMID:22508176|PMID:22797899|PMID:22863349|PMID:22995991|PMID:23300259|PMID:23376035|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25149526|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27782177|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29321346|PMID:29338003|PMID:29378535|PMID:29520754|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30369598|PMID:30639418|PMID:30816285|PMID:30820006|PMID:30989420|PMID:31317121|PMID:31740684|PMID:31948117|PMID:31979107|PMID:32332171|PMID:32384474|PMID:32457805|PMID:32816041|PMID:32970388|PMID:33095447|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33964006|PMID:34101167|PMID:35778421|PMID:8650545|PMID:9326320|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210 12219657 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:898 autosomal dominant polycystic kidney disease onset ISO RGD:1353787 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:22863349|REF_RGD_ID:7175273 12219657 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12219657 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1353787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Polycystic liver disease 1 PMID:25741868 12219657 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1559992 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:12454224|REF_RGD_ID:1580868 12219657 PKD2 polycystin 2, transient receptor potential cation channel gene DOID:9912 hydrocele ISO RGD:1353787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrocele PMID:25741868 12219677 MESD mesoderm development LRP chaperone gene DOID:0050726 tyrosinemia type I ISO RGD:1321194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:28492532 12219677 MESD mesoderm development LRP chaperone gene DOID:0111849 osteogenesis imperfecta type 20 ISO RGD:1321194 D RGD:7240710 20191030 OMIM 12219677 MESD mesoderm development LRP chaperone gene DOID:0111849 osteogenesis imperfecta type 20 ISO RGD:1321194 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type 20 PMID:31564437|PMID:33596325 12219677 MESD mesoderm development LRP chaperone gene DOID:2717 Bloom syndrome ISO RGD:1321194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12219677 MESD mesoderm development LRP chaperone gene DOID:630 genetic disease ISO RGD:1321194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219677 MESD mesoderm development LRP chaperone gene DOID:9256 colorectal cancer ISO RGD:1321194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12219683 FNDC7 fibronectin type III domain containing 7 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1604516 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12219683 FNDC7 fibronectin type III domain containing 7 gene DOID:12849 autistic disorder ISO RGD:1604516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12219683 FNDC7 fibronectin type III domain containing 7 gene DOID:630 genetic disease ISO RGD:1604516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219698 METTL13 methyltransferase 13, eEF1A lysine and N-terminal methyltransferase gene DOID:1540 parathyroid carcinoma ISO RGD:1604624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12219698 METTL13 methyltransferase 13, eEF1A lysine and N-terminal methyltransferase gene DOID:630 genetic disease ISO RGD:1604624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219698 METTL13 methyltransferase 13, eEF1A lysine and N-terminal methyltransferase gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1604624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 12219698 METTL13 methyltransferase 13, eEF1A lysine and N-terminal methyltransferase gene DOID:9003159 Nonsyndromic Deafness, Modifier 1 ISO RGD:1604624 D RGD:7240710 20190315 OMIM 12219698 METTL13 methyltransferase 13, eEF1A lysine and N-terminal methyltransferase gene DOID:9003159 Nonsyndromic Deafness, Modifier 1 ISO RGD:1604624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DFNM1 PMID:29408807 12219698 METTL13 methyltransferase 13, eEF1A lysine and N-terminal methyltransferase gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1604624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12219698 METTL13 methyltransferase 13, eEF1A lysine and N-terminal methyltransferase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12219715 VRK1 VRK serine/threonine kinase 1 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1314472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:28492532 12219715 VRK1 VRK serine/threonine kinase 1 gene DOID:0060265 pontocerebellar hypoplasia type 1A ISO RGD:1314472 D RGD:7240710 20180130 OMIM 12219715 VRK1 VRK serine/threonine kinase 1 gene DOID:0060265 pontocerebellar hypoplasia type 1A ISO RGD:1314472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital pontocerebellar hypoplasia type 1 | ClinVar Annotator: match by term: Distal hereditary motor neuropathy associated with upper motor neuron signs | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1A | ClinVar Annotator: match by term: Pontocerebellar hypoplasia with anterior horn cell disease PMID:16199547|PMID:17576681|PMID:18414213|PMID:19646678|PMID:19763152|PMID:20307669|PMID:21937992|PMID:22406018|PMID:24088041|PMID:24126608|PMID:25356970|PMID:25741868|PMID:26467025|PMID:26583493|PMID:26633545|PMID:27281532|PMID:28492532|PMID:30617279|PMID:30847374|PMID:31090908|PMID:31167812|PMID:31178479|PMID:31527692|PMID:31560180|PMID:31837156|PMID:32242460|PMID:32298515|PMID:32365420|PMID:34169149|PMID:9536098 12219715 VRK1 VRK serine/threonine kinase 1 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1314472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1B PMID:25741868|PMID:28492532 12219715 VRK1 VRK serine/threonine kinase 1 gene DOID:0060839 isolated microphthalmia 2 ISO RGD:1314472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 2 PMID:25741868|PMID:28492532 12219715 VRK1 VRK serine/threonine kinase 1 gene DOID:0112322 pontocerebellar hypoplasia type 1 ISO RGD:1314472 D RGD:9068941 20220721 CTD CTD Direct Evidence: marker/mechanism 12219715 VRK1 VRK serine/threonine kinase 1 gene DOID:1059 intellectual disability ISO RGD:1314472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12219715 VRK1 VRK serine/threonine kinase 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1314472 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:18414213|PMID:25741868|PMID:27281532|PMID:28492532|PMID:31527692 12219715 VRK1 VRK serine/threonine kinase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1314472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:31090908 12219715 VRK1 VRK serine/threonine kinase 1 gene DOID:630 genetic disease ISO RGD:1314472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:18414213|PMID:19646678|PMID:24126608|PMID:25356970|PMID:25741868|PMID:27281532|PMID:28492532|PMID:31527692|PMID:31837156|PMID:34169149|PMID:9536098 12219715 VRK1 VRK serine/threonine kinase 1 gene DOID:9000276 Juvenile Amyotrophic Lateral Sclerosis ISO RGD:1314472 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis PMID:25741868|PMID:26583493|PMID:26633545|PMID:28492532|PMID:31167812|PMID:31527692 12219715 VRK1 VRK serine/threonine kinase 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:1314472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies PMID:19646678|PMID:24126608|PMID:25356970|PMID:25741868|PMID:27281532|PMID:28492532 12219739 TNS3 tensin 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12219739 TNS3 tensin 3 gene DOID:630 genetic disease ISO RGD:1323398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219775 TRABD TraB domain containing gene DOID:0060041 autism spectrum disorder ISO RGD:1601961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12219775 TRABD TraB domain containing gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1601961 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12219775 TRABD TraB domain containing gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1601961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12219775 TRABD TraB domain containing gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1601961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12219775 TRABD TraB domain containing gene DOID:10581 metachromatic leukodystrophy ISO RGD:1601961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12219775 TRABD TraB domain containing gene DOID:1059 intellectual disability ISO RGD:1601961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12219775 TRABD TraB domain containing gene DOID:630 genetic disease ISO RGD:1601961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0050572 cone-rod dystrophy ISO RGD:1343997 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:19668216|PMID:23034536|PMID:23386033|PMID:25741868|PMID:26092869|PMID:28492532|PMID:29146704|PMID:29186038|PMID:34188062 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0050572 cone-rod dystrophy ISO RGD:1343997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:19668216|PMID:23034536|PMID:23386033|PMID:23847139|PMID:25741868|PMID:25999675|PMID:26092869|PMID:28125082|PMID:28492532|PMID:28559085|PMID:29146704|PMID:29186038|PMID:31456290|PMID:34188062 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0050777 Joubert syndrome ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:10577920|PMID:15786477|PMID:16025100|PMID:17576681|PMID:18414213|PMID:19597493|PMID:19668215|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:23847139|PMID:24257694|PMID:25132448|PMID:25516202|PMID:25741868|PMID:25818971|PMID:25963545|PMID:25999675|PMID:26092869|PMID:26748598|PMID:26820064|PMID:27081510|PMID:27401686|PMID:28125082|PMID:28454995|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28771248|PMID:29052317|PMID:29146704|PMID:29186038|PMID:29230161|PMID:29555955|PMID:29915382|PMID:29987673|PMID:30202406|PMID:31456290|PMID:31589614|PMID:32304219|PMID:33270637|PMID:33749171|PMID:34188062|PMID:9536098 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1343997 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1343997 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1343997 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1343997 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0081097 Rafiq syndrome ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343997 D RGD:7240710 20180130 OMIM 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 PMID:10577920|PMID:15786477|PMID:17576681|PMID:18414213|PMID:19668215|PMID:19668216|PMID:23034536|PMID:23386033|PMID:23847139|PMID:25133751|PMID:25741868|PMID:25818971|PMID:25999675|PMID:26092869|PMID:27081510|PMID:28125082|PMID:28454995|PMID:28492532|PMID:28559085|PMID:28771248|PMID:29052317|PMID:29186038|PMID:29230161|PMID:29555955|PMID:29915382|PMID:29987673|PMID:30202406|PMID:31589614|PMID:33270637|PMID:9536098 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343997 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 PMID:15786477|PMID:18414213|PMID:19668216|PMID:25741868|PMID:26092869|PMID:27081510|PMID:28454995|PMID:28492532|PMID:28559085|PMID:28771248|PMID:29186038|PMID:29915382 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Joubert syndrome 1 PMID:10577920|PMID:15786477|PMID:17576681|PMID:18414213|PMID:19668215|PMID:19668216|PMID:23034536|PMID:23386033|PMID:23847139|PMID:24257694|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25999675|PMID:26092869|PMID:26748598|PMID:27081510|PMID:27401686|PMID:28125082|PMID:28454995|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28771248|PMID:29052317|PMID:29146704|PMID:29186038|PMID:29230161|PMID:29555955|PMID:29915382|PMID:29987673|PMID:30202406|PMID:31456290|PMID:31506345|PMID:31589614|PMID:32304219|PMID:33270637|PMID:33749171|PMID:34188062|PMID:9536098 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1 PMID:15786477|PMID:18414213|PMID:19668216|PMID:23034536|PMID:23386033|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26092869|PMID:26748598|PMID:27081510|PMID:27401686|PMID:28454995|PMID:28492532|PMID:28559085|PMID:28771248|PMID:29052317|PMID:29186038|PMID:29230161|PMID:29915382|PMID:30202406|PMID:31506345|PMID:33749171|PMID:34188062 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:1059 intellectual disability ISO RGD:1343997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19668215 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:11836 clubfoot ISO RGD:1343997 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:15786477|PMID:19668216|PMID:25741868|PMID:26748598|PMID:27401686|PMID:28492532|PMID:29186038|PMID:33749171|PMID:34188062 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:14791 Leber congenital amaurosis ISO RGD:1343997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:23034536|PMID:23386033|PMID:25741868|PMID:28492532|PMID:28559085|PMID:29146704|PMID:29186038|PMID:31456290|PMID:34188062 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:1529 penile disease ISO RGD:1343997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19668215 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:3652 Leigh disease ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:630 genetic disease ISO RGD:1343997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10577920|PMID:15786477|PMID:19668216|PMID:25741868|PMID:26748598|PMID:27081510|PMID:27401686|PMID:28454995|PMID:28492532|PMID:28559085|PMID:28771248|PMID:29186038|PMID:29915382|PMID:33749171|PMID:34188062 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:8501 fundus dystrophy ISO RGD:1343997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15786477|PMID:19668216|PMID:23034536|PMID:23386033|PMID:25741868|PMID:25818971|PMID:26092869|PMID:28125082|PMID:28492532|PMID:29186038|PMID:29230161|PMID:30202406|PMID:34188062 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:9001591 Ciliary Motility Disorders ISO RGD:1343997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19668215|PMID:19668216 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:9002525 Hereditary Eye Diseases ISO RGD:1343997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19668215 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:9005249 Immunodeficiency 103 ISO RGD:1343997 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS PMID:28492532 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:9006992 MORM Syndrome ISO RGD:1343997 D RGD:7240710 20180130 OMIM 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:9006992 MORM Syndrome ISO RGD:1343997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MORM syndrome PMID:19668215|PMID:19668216|PMID:23034536|PMID:23847139|PMID:25741868|PMID:28492532|PMID:28559085|PMID:29186038|PMID:34188062 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:9970 obesity ISO RGD:1332343 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle, white adipose tissue PMID:23349329|REF_RGD_ID:12911211 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:9970 obesity ISO RGD:1343997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19668215 12219786 INPP5E inositol polyphosphate-5-phosphatase E gene DOID:9970 obesity treatment ISO RGD:620478 D RGD:9068941 20200609 RGD PMID:23349329|REF_RGD_ID:12911211 12219803 HES2 hes family bHLH transcription factor 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736308 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12219803 HES2 hes family bHLH transcription factor 2 gene DOID:630 genetic disease ISO RGD:736308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219803 HES2 hes family bHLH transcription factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12219817 ANAPC13 anaphase promoting complex subunit 13 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1346286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12219835 CD99 CD99 molecule gene DOID:12849 autistic disorder ISO RGD:1344139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12219835 CD99 CD99 molecule gene DOID:3369 Ewing sarcoma ISO RGD:1344139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CD99 Positive Neoplastic Cells Present PMID:25741868 12219835 CD99 CD99 molecule gene DOID:4545 mesenchymal chondrosarcoma ISO RGD:1344139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12817616 12219854 TCEANC2 transcription elongation factor A N-terminal and central domain containing 2 gene DOID:630 genetic disease ISO RGD:1606976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219872 OTOGL otogelin like gene DOID:0110530 autosomal recessive nonsyndromic deafness 84B ISO RGD:1603526 D RGD:7240710 20180130 OMIM 12219872 OTOGL otogelin like gene DOID:0110530 autosomal recessive nonsyndromic deafness 84B ISO RGD:1603526 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 84b PMID:16199547|PMID:17576681|PMID:23122586|PMID:23850727|PMID:24033266|PMID:25719458|PMID:25741868|PMID:26969326|PMID:28492532|PMID:35802133|PMID:36633841|PMID:9536098 12219872 OTOGL otogelin like gene DOID:0111223 centronuclear myopathy 1 ISO RGD:1603526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 3 PMID:28492532 12219872 OTOGL otogelin like gene DOID:11372 megacolon ISO RGD:1603526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12219872 OTOGL otogelin like gene DOID:630 genetic disease ISO RGD:1603526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:23122586|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12219872 OTOGL otogelin like gene DOID:9004538 Hearing Loss ISO RGD:1603526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:28492532|PMID:30311386 12219934 FBXO46 F-box protein 46 gene DOID:630 genetic disease ISO RGD:1318136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219944 WNT16 Wnt family member 16 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12219944 WNT16 Wnt family member 16 gene DOID:630 genetic disease ISO RGD:1345805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219956 TOPAZ1 testis and ovary specific TOPAZ 1 gene DOID:630 genetic disease ISO RGD:2311615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12219979 LYPD8 LY6/PLAUR domain containing 8 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:6771298 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12219992 SPATA46 spermatogenesis associated 46 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1603514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12219992 SPATA46 spermatogenesis associated 46 gene DOID:1540 parathyroid carcinoma ISO RGD:1603514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12219992 SPATA46 spermatogenesis associated 46 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12220029 WDR93 WD repeat domain 93 gene DOID:0060041 autism spectrum disorder ISO RGD:1604328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic spectrum disorder with isolated skills PMID:25558065 12220029 WDR93 WD repeat domain 93 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1604328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12220029 WDR93 WD repeat domain 93 gene DOID:2717 Bloom syndrome ISO RGD:1604328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12220029 WDR93 WD repeat domain 93 gene DOID:630 genetic disease ISO RGD:1604328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12220029 WDR93 WD repeat domain 93 gene DOID:9256 colorectal cancer ISO RGD:1604328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12220072 ASCL5 achaete-scute family bHLH transcription factor 5 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1603722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12220072 ASCL5 achaete-scute family bHLH transcription factor 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1603722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12220072 ASCL5 achaete-scute family bHLH transcription factor 5 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1603722 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12220072 ASCL5 achaete-scute family bHLH transcription factor 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12220132 ATRAID all-trans retinoic acid induced differentiation factor gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1323150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12220132 ATRAID all-trans retinoic acid induced differentiation factor gene DOID:630 genetic disease ISO RGD:1323150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12220143 MRPS28 mitochondrial ribosomal protein S28 gene DOID:0112114 combined oxidative phosphorylation deficiency 47 ISO RGD:1313591 D RGD:7240710 20200812 OMIM 12220143 MRPS28 mitochondrial ribosomal protein S28 gene DOID:0112114 combined oxidative phosphorylation deficiency 47 ISO RGD:1313591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 47 PMID:30566640 12220143 MRPS28 mitochondrial ribosomal protein S28 gene DOID:630 genetic disease ISO RGD:1313591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12220143 MRPS28 mitochondrial ribosomal protein S28 gene DOID:9008939 Breast Neoplasms ISO RGD:1313591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12220150 MARCHF6 membrane associated ring-CH-type finger 6 gene DOID:0111695 familial adult myoclonic epilepsy 3 ISO RGD:1343716 D RGD:7240710 20191127 OMIM 12220150 MARCHF6 membrane associated ring-CH-type finger 6 gene DOID:0111695 familial adult myoclonic epilepsy 3 ISO RGD:1343716 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 3 12220150 MARCHF6 membrane associated ring-CH-type finger 6 gene DOID:630 genetic disease ISO RGD:1343716 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12220183 BRIX1 biogenesis of ribosomes BRX1 gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:1605358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 12220183 BRIX1 biogenesis of ribosomes BRX1 gene DOID:630 genetic disease ISO RGD:1605358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12220183 BRIX1 biogenesis of ribosomes BRX1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12220197 TBC1D30 TBC1 domain family member 30 gene DOID:630 genetic disease ISO RGD:2291766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12220227 CEP290 centrosomal protein 290 gene DOID:0050545 visceral heterotaxy ISO RGD:1323204 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 12220227 CEP290 centrosomal protein 290 gene DOID:0050572 cone-rod dystrophy ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:16909394|PMID:17345604|PMID:20690115|PMID:25741868|PMID:28492532|PMID:29641573|PMID:30193310|PMID:30718709|PMID:32865313 12220227 CEP290 centrosomal protein 290 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia PMID:25741868|PMID:28492532 12220227 CEP290 centrosomal protein 290 gene DOID:0050777 Joubert syndrome ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19763152|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20130272|PMID:20301475|PMID:20307669|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21786365|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22406018|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27032803|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27821535|PMID:27848944|PMID:27894351|PMID:28041643|PMID:28127548|PMID:28157192|PMID:28224992|PMID:28418496|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28973549|PMID:29053603|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29261186|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29754767|PMID:29771326|PMID:29844330|PMID:29970488|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30902645|PMID:31054281|PMID:31091803|PMID:31411728|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32386258|PMID:32581362|PMID:32600475|PMID:32619255|PMID:32856788|PMID:32864857|PMID:32865313|PMID:33105651|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33576794|PMID:33726816|PMID:33886416|PMID:33946315|PMID:33970760|PMID:34096792|PMID:34196655|PMID:34795310|PMID:9536098 12220227 CEP290 centrosomal protein 290 gene DOID:0050778 Meckel syndrome ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32165824|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 12220227 CEP290 centrosomal protein 290 gene DOID:0050952 spastic ataxia ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:16909394|PMID:17345604|PMID:17564974|PMID:20690115|PMID:21602930|PMID:23027964|PMID:25741868|PMID:28492532|PMID:29398085 12220227 CEP290 centrosomal protein 290 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1604786 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica PMID:16199547|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26673778|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29641573|PMID:30718709|PMID:30902645|PMID:31630094|PMID:32865313|PMID:33546218 12220227 CEP290 centrosomal protein 290 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1604786 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:16199547|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26529047|PMID:26673778|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 12220227 CEP290 centrosomal protein 290 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1604786 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome PMID:16199547|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32165824|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 12220227 CEP290 centrosomal protein 290 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32165824|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 12220227 CEP290 centrosomal protein 290 gene DOID:0070117 Meckel syndrome 3 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 3 PMID:16199547|PMID:16909394|PMID:17345604|PMID:20690115|PMID:25445212|PMID:25741868|PMID:28492532|PMID:32139166|PMID:32165824 12220227 CEP290 centrosomal protein 290 gene DOID:0070118 Meckel syndrome 4 ISO RGD:1604786 D RGD:7240710 20180130 OMIM 12220227 CEP290 centrosomal protein 290 gene DOID:0070118 Meckel syndrome 4 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4 PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22446187|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24265693|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26667666|PMID:26673778|PMID:27353947|PMID:27375279|PMID:27894351|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:28912962|PMID:29053603|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:29754767|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30902645|PMID:31091803|PMID:31411728|PMID:31624253|PMID:31680349|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33726816|PMID:33970760|PMID:34196655|PMID:34795310|PMID:9536098 12220227 CEP290 centrosomal protein 290 gene DOID:0070120 Meckel syndrome 6 ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 6 PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:18327255|PMID:18414213|PMID:20690115|PMID:21068128|PMID:21245082|PMID:22355252|PMID:22693042|PMID:23591405|PMID:23954617|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28492532|PMID:30718709 12220227 CEP290 centrosomal protein 290 gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:18414213|PMID:20690115|PMID:21068128|PMID:21245082|PMID:22355252|PMID:22693042|PMID:23591405|PMID:23954617|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28492532|PMID:30718709 12220227 CEP290 centrosomal protein 290 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1604786 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25439097|PMID:25741868|PMID:28224992|PMID:28492532|PMID:29482223|PMID:31624253|PMID:33726816|PMID:34795310 12220227 CEP290 centrosomal protein 290 gene DOID:0080322 polycystic kidney disease ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:16909394|PMID:17345604|PMID:17564967|PMID:17705300|PMID:19466712|PMID:19764032|PMID:20683928|PMID:20690115|PMID:21245082|PMID:25741868|PMID:28041643|PMID:28492532|PMID:31734136 12220227 CEP290 centrosomal protein 290 gene DOID:0110136 Bardet-Biedl syndrome 14 ISO RGD:1604786 D RGD:7240710 20180130 OMIM 12220227 CEP290 centrosomal protein 290 gene DOID:0110136 Bardet-Biedl syndrome 14 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17964524|PMID:18327255|PMID:18414213|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24265693|PMID:25097241|PMID:25324289|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26673778|PMID:27353947|PMID:27375279|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:28912962|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30718709|PMID:30776697|PMID:30902645|PMID:31091803|PMID:31624253|PMID:31734136|PMID:31816670|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33308271|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33726816|PMID:33970760|PMID:34196655|PMID:34795310|PMID:9536098 12220227 CEP290 centrosomal protein 290 gene DOID:0110291 Leber congenital amaurosis 10 ISO RGD:1604786 D RGD:7240710 20180130 OMIM 12220227 CEP290 centrosomal protein 290 gene DOID:0110291 Leber congenital amaurosis 10 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 10 PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17554762|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20130272|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28829391|PMID:28912962|PMID:28973549|PMID:29146704|PMID:29178642|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:29754767|PMID:29771326|PMID:29844330|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30902645|PMID:31091803|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33726816|PMID:33886416|PMID:33970760|PMID:34196655|PMID:34795310|PMID:9536098 12220227 CEP290 centrosomal protein 290 gene DOID:0110873 holoprosencephaly 9 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebellar cyst PMID:16909394|PMID:17345604|PMID:17564967|PMID:17705300|PMID:19466712|PMID:19764032|PMID:20683928|PMID:20690115|PMID:21245082|PMID:25741868|PMID:28041643|PMID:28492532|PMID:31734136 12220227 CEP290 centrosomal protein 290 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:27375279|PMID:27491411|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29146704|PMID:29186038|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30776697|PMID:30902645|PMID:31091803|PMID:31624253|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32165824|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33576794|PMID:33726816|PMID:33970760|PMID:34795310|PMID:9536098 12220227 CEP290 centrosomal protein 290 gene DOID:0111000 Joubert syndrome 5 ISO RGD:1604786 D RGD:7240710 20180130 OMIM 12220227 CEP290 centrosomal protein 290 gene DOID:0111000 Joubert syndrome 5 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome 5 PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18327255|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22446187|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26673778|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27491411|PMID:27848944|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:28844315|PMID:28912962|PMID:29146704|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29754767|PMID:29844330|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30902645|PMID:31091803|PMID:31624253|PMID:31630094|PMID:31734136|PMID:31816670|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32208788|PMID:32581362|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33726816|PMID:33970760|PMID:34196655|PMID:34795310|PMID:9536098 12220227 CEP290 centrosomal protein 290 gene DOID:0111112 nephronophthisis 1 ISO RGD:1604786 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:16199547|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32165824|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 12220227 CEP290 centrosomal protein 290 gene DOID:0111112 nephronophthisis 1 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32165824|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 12220227 CEP290 centrosomal protein 290 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1604786 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency PMID:16909394|PMID:17345604|PMID:20690115|PMID:21866095|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28497568 12220227 CEP290 centrosomal protein 290 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1604786 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:16909394|PMID:17345604|PMID:17564967|PMID:20690115|PMID:21866095|PMID:23847139|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28497568|PMID:29146704|PMID:31630094|PMID:31734136 12220227 CEP290 centrosomal protein 290 gene DOID:10584 retinitis pigmentosa ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17564974|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20079931|PMID:20690115|PMID:21068128|PMID:21245082|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23559409|PMID:23591405|PMID:23954617|PMID:25377065|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29343940|PMID:29844330|PMID:30718709|PMID:33546218 12220227 CEP290 centrosomal protein 290 gene DOID:10584 retinitis pigmentosa ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17564974|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21068128|PMID:21245082|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23954617|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29343940|PMID:29844330|PMID:30190494|PMID:30718709|PMID:33546218 12220227 CEP290 centrosomal protein 290 gene DOID:1059 intellectual disability ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:16909394|PMID:17345604|PMID:17564967|PMID:17964524|PMID:23343883|PMID:23344081|PMID:24265693|PMID:25097241|PMID:25741868|PMID:26477546|PMID:28492532|PMID:33546218 12220227 CEP290 centrosomal protein 290 gene DOID:1059 intellectual disability ISO RGD:1604786 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:16909394|PMID:17345604|PMID:17564967|PMID:17964524|PMID:20301475|PMID:23343883|PMID:23344081|PMID:24265693|PMID:25097241|PMID:25741868|PMID:26477546|PMID:28492532|PMID:33546218 12220227 CEP290 centrosomal protein 290 gene DOID:1059 intellectual disability ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:16909394|PMID:17345604|PMID:17564967|PMID:17576681|PMID:17964524|PMID:20301475|PMID:23343883|PMID:23344081|PMID:24265693|PMID:25097241|PMID:25741868|PMID:26477546|PMID:28492532|PMID:33546218|PMID:9536098 12220227 CEP290 centrosomal protein 290 gene DOID:10907 microcephaly ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12220227 CEP290 centrosomal protein 290 gene DOID:12712 nephronophthisis ISO RGD:1604786 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:16199547|PMID:16682970|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26529047|PMID:26673778|PMID:27422788|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28844315|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29641573|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31884610|PMID:32037395|PMID:32581362|PMID:32865313|PMID:33105651|PMID:33546218|PMID:9536098 12220227 CEP290 centrosomal protein 290 gene DOID:12712 nephronophthisis ISO RGD:1604786 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:16199547|PMID:16682970|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26529047|PMID:26673778|PMID:27422788|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28844315|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32581362|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 12220227 CEP290 centrosomal protein 290 gene DOID:12712 nephronophthisis ISO RGD:1604786 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:16199547|PMID:16682970|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26529047|PMID:26673778|PMID:27422788|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28844315|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32208788|PMID:32581362|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 12220227 CEP290 centrosomal protein 290 gene DOID:12712 nephronophthisis ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:27422788|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:28844315|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32165824|PMID:32208788|PMID:32581362|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 12220227 CEP290 centrosomal protein 290 gene DOID:1432 blindness ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Blindness PMID:16909394|PMID:17345604|PMID:17564967|PMID:20683928|PMID:20690115|PMID:21866095|PMID:23188109|PMID:23847139|PMID:25525159|PMID:25741868|PMID:25920555|PMID:26092869|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29398085|PMID:31091803|PMID:31734136 12220227 CEP290 centrosomal protein 290 gene DOID:14791 Leber congenital amaurosis ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27422788|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28973549|PMID:29146704|PMID:29178642|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29844330|PMID:30718709|PMID:31091803|PMID:31630094|PMID:31680349|PMID:31734136|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33546218|PMID:34196655|PMID:9536098 12220227 CEP290 centrosomal protein 290 gene DOID:14791 Leber congenital amaurosis ISO RGD:1604786 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:29146704|PMID:29178642|PMID:29398085|PMID:29482223|PMID:29588463|PMID:30718709|PMID:30776697|PMID:30902645|PMID:31091803|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33546218|PMID:33726816|PMID:34196655|PMID:34795310|PMID:9536098 12220227 CEP290 centrosomal protein 290 gene DOID:14791 Leber congenital amaurosis ISO RGD:1604786 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:29146704|PMID:29178642|PMID:29398085|PMID:29482223|PMID:29588463|PMID:30718709|PMID:30776697|PMID:30902645|PMID:31091803|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31884610|PMID:32037395|PMID:32208788|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33546218|PMID:33726816|PMID:34196655|PMID:34795310|PMID:9536098 12220227 CEP290 centrosomal protein 290 gene DOID:14791 Leber congenital amaurosis ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22446187|PMID:22693042|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:29146704|PMID:29178642|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29771326|PMID:29844330|PMID:29974258|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30902645|PMID:31091803|PMID:31411728|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31884610|PMID:32036094|PMID:32037395|PMID:32208788|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33249554|PMID:33546218|PMID:33726816|PMID:34196655|PMID:34795310|PMID:9536098 12220227 CEP290 centrosomal protein 290 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:18414213|PMID:25741868|PMID:28492532 12220227 CEP290 centrosomal protein 290 gene DOID:2975 cystic kidney disease ISO RGD:1323204 D RGD:9068941 20220825 MouseDO 12220227 CEP290 centrosomal protein 290 gene DOID:557 kidney disease ISO RGD:1604786 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:16909394|PMID:17345604|PMID:17564967|PMID:20690115|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31970223|PMID:32856788|PMID:33502066|PMID:33574314|PMID:33970760 12220227 CEP290 centrosomal protein 290 gene DOID:630 genetic disease ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17617513|PMID:20690115|PMID:21866095|PMID:23847139|PMID:25741868|PMID:26092869|PMID:26673778|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29754767|PMID:29771326|PMID:31734136|PMID:31816670|PMID:32036094|PMID:32865313 12220227 CEP290 centrosomal protein 290 gene DOID:8466 retinal degeneration ISO RGD:1323204 D RGD:9068941 20200609 RGD PMID:16632484|REF_RGD_ID:8662295 12220227 CEP290 centrosomal protein 290 gene DOID:8466 retinal degeneration onset ISO RGD:1557212 D RGD:9068941 20200609 RGD PMID:26936822|REF_RGD_ID:11537380 12220227 CEP290 centrosomal protein 290 gene DOID:8499 night blindness ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Night blindness PMID:16909394|PMID:17345604|PMID:20683928|PMID:20690115|PMID:25741868|PMID:28492532 12220227 CEP290 centrosomal protein 290 gene DOID:8501 fundus dystrophy ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21245082|PMID:22355252|PMID:22693042|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25097241|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26673778|PMID:27032803|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27491411|PMID:28041643|PMID:28418496|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28829391|PMID:29178642|PMID:29398085|PMID:29771326|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31734136|PMID:31884610|PMID:32036094|PMID:32037395|PMID:32865313|PMID:33546218|PMID:33576794 12220227 CEP290 centrosomal protein 290 gene DOID:9000378 Congenital Anosmia ISO RGD:1323204 D RGD:9068941 20200609 RGD PMID:17898177|REF_RGD_ID:8662303 12220227 CEP290 centrosomal protein 290 gene DOID:9000983 Encephalocele ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalocele | ClinVar Annotator: match by term: Occipital encephalocele PMID:16909394|PMID:17345604|PMID:17564967|PMID:17564974|PMID:17705300|PMID:20683928|PMID:20690115|PMID:21866095|PMID:23847139|PMID:25525159|PMID:25741868|PMID:26092869|PMID:27894351|PMID:28492532|PMID:28497568|PMID:29398085|PMID:31680349|PMID:31734136 12220227 CEP290 centrosomal protein 290 gene DOID:9006534 Nervous System Malformations ISO RGD:1604786 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:18414213|PMID:20690115|PMID:21068128|PMID:21245082|PMID:22355252|PMID:22693042|PMID:23591405|PMID:23954617|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28492532|PMID:30718709 12220227 CEP290 centrosomal protein 290 gene DOID:9008086 Developmental Disabilities ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:20690115|PMID:21866095|PMID:23847139|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28497568|PMID:29588463|PMID:31734136 12220227 CEP290 centrosomal protein 290 gene DOID:9008709 Senior-Loken Syndrome 6 ISO RGD:1604786 D RGD:7240710 20180130 OMIM 12220227 CEP290 centrosomal protein 290 gene DOID:9008709 Senior-Loken Syndrome 6 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 6 PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24265693|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26673778|PMID:27353947|PMID:27375279|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:28912962|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30718709|PMID:30776697|PMID:30902645|PMID:31091803|PMID:31624253|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33308271|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33726816|PMID:33970760|PMID:34196655|PMID:34795310|PMID:9536098 12220227 CEP290 centrosomal protein 290 gene DOID:9650 pathologic nystagmus ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:16909394|PMID:17345604|PMID:17564967|PMID:20683928|PMID:20690115|PMID:23188109|PMID:25525159|PMID:25741868|PMID:25920555|PMID:26092869|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29398085|PMID:31091803|PMID:31734136 12220284 GDPD5 glycerophosphodiester phosphodiesterase domain containing 5 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1604590 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12220284 GDPD5 glycerophosphodiester phosphodiesterase domain containing 5 gene DOID:1059 intellectual disability ISO RGD:1604590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12220284 GDPD5 glycerophosphodiester phosphodiesterase domain containing 5 gene DOID:630 genetic disease ISO RGD:1604590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12220314 SS18L1 SS18L1 subunit of BAF chromatin remodeling complex gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1345361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12220314 SS18L1 SS18L1 subunit of BAF chromatin remodeling complex gene DOID:630 genetic disease ISO RGD:1345361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12220328 POPDC2 popeye domain containing 2 gene DOID:630 genetic disease ISO RGD:1352577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12220334 CBL Cbl proto-oncogene gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1345184 D RGD:7240710 20190315 OMIM 12220334 CBL Cbl proto-oncogene gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1345184 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:16199547|PMID:17576681|PMID:18698078|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20543203|PMID:20619386|PMID:20694012|PMID:20951944|PMID:20955399|PMID:21828135|PMID:21901340|PMID:22733026|PMID:23010802|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24451042|PMID:24728327|PMID:24803665|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25741868|PMID:25939664|PMID:25952305|PMID:27069254|PMID:27609087|PMID:28414188|PMID:28492532|PMID:28589114|PMID:29296819|PMID:29696744|PMID:31057598|PMID:32933826|PMID:33337535|PMID:9536098 12220334 CBL Cbl proto-oncogene gene DOID:0060017 CD3epsilon deficiency ISO RGD:1345184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12220334 CBL Cbl proto-oncogene gene DOID:0060578 Noonan syndrome 1 ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:25741868 12220334 CBL Cbl proto-oncogene gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1345184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12220334 CBL Cbl proto-oncogene gene DOID:0070004 myeloid neoplasm ISO RGD:1345184 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:22315494|REF_RGD_ID:11038804 12220334 CBL Cbl proto-oncogene gene DOID:0070004 myeloid neoplasm disease_progression ISO RGD:1345184 D RGD:9068941 20200609 RGD DNA:mutations:exons: PMID:19387008|REF_RGD_ID:11038808 12220334 CBL Cbl proto-oncogene gene DOID:0070004 myeloid neoplasm disease_progression ISO RGD:1558608 D RGD:9068941 20200609 RGD PMID:20951944|REF_RGD_ID:11038798 12220334 CBL Cbl proto-oncogene gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:22742743|PMID:28492532 12220334 CBL Cbl proto-oncogene gene DOID:0080646 B-lymphoblastic leukemia/lymphoma with hyperdiploidy ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy PMID:24033266|PMID:25741868|PMID:28492532 12220334 CBL Cbl proto-oncogene gene DOID:0080690 RASopathy ISO RGD:1345184 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: RASopathy PMID:17446348|PMID:17576681|PMID:18698078|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20543203|PMID:20595524|PMID:20619386|PMID:20694012|PMID:20951944|PMID:20955399|PMID:21828135|PMID:21901340|PMID:22246246|PMID:22733026|PMID:22742743|PMID:22817890|PMID:23010802|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24493670|PMID:24728327|PMID:24801577|PMID:24803665|PMID:24896146|PMID:25178484|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25426838|PMID:25731833|PMID:25741868|PMID:25952305|PMID:26580448|PMID:26847329|PMID:27069254|PMID:27784745|PMID:27941868|PMID:28414188|PMID:28492532|PMID:28589114|PMID:29177441|PMID:29296819|PMID:29696744|PMID:31057598|PMID:31101757|PMID:31102422|PMID:31333075|PMID:31568572|PMID:31970404|PMID:32933826|PMID:9536098 12220334 CBL Cbl proto-oncogene gene DOID:0080690 RASopathy ISO RGD:1345184 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: RASopathy PMID:14640702|PMID:15581361|PMID:16199547|PMID:17446348|PMID:17576681|PMID:18698078|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20543203|PMID:20595524|PMID:20619386|PMID:20644105|PMID:20694012|PMID:20951944|PMID:20955399|PMID:21828135|PMID:21901340|PMID:22246246|PMID:22266821|PMID:22733026|PMID:22742743|PMID:22817890|PMID:23010802|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24451042|PMID:24458550|PMID:24493670|PMID:24728327|PMID:24801577|PMID:24803665|PMID:24896146|PMID:25178484|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25426838|PMID:25731833|PMID:25741868|PMID:25952305|PMID:26580448|PMID:26676746|PMID:26847329|PMID:27069254|PMID:27609087|PMID:27784745|PMID:27854218|PMID:27941868|PMID:28414188|PMID:28492532|PMID:28589114|PMID:28957739|PMID:29177441|PMID:29296819|PMID:29696744|PMID:31057598|PMID:31101757|PMID:31102422|PMID:31333075|PMID:31568572|PMID:31664448|PMID:31970404|PMID:32533790|PMID:32933826|PMID:33318624|PMID:33550024|PMID:33627783|PMID:9536098 12220334 CBL Cbl proto-oncogene gene DOID:0080690 RASopathy ISO RGD:1345184 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:14640702|PMID:15581361|PMID:16199547|PMID:17446348|PMID:17576681|PMID:18698078|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20543203|PMID:20595524|PMID:20619386|PMID:20644105|PMID:20694012|PMID:20951944|PMID:20955399|PMID:21828135|PMID:21901340|PMID:22246246|PMID:22266821|PMID:22733026|PMID:22742743|PMID:22817890|PMID:23010802|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24451042|PMID:24458550|PMID:24493670|PMID:24728327|PMID:24801577|PMID:24803665|PMID:24896146|PMID:25178484|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25426838|PMID:25731833|PMID:25741868|PMID:25952305|PMID:26580448|PMID:26676746|PMID:26847329|PMID:27069254|PMID:27609087|PMID:27784745|PMID:27941868|PMID:28414188|PMID:28492532|PMID:28589114|PMID:28957739|PMID:29177441|PMID:29296819|PMID:29696744|PMID:31057598|PMID:31101757|PMID:31102422|PMID:31333075|PMID:31568572|PMID:31664448|PMID:31970404|PMID:32533790|PMID:32933826|PMID:33318624|PMID:33550024|PMID:33627783|PMID:9536098 12220334 CBL Cbl proto-oncogene gene DOID:0110651 long QT syndrome 10 ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12220334 CBL Cbl proto-oncogene gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:22742743|PMID:28492532 12220334 CBL Cbl proto-oncogene gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1345184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12220334 CBL Cbl proto-oncogene gene DOID:0111971 immunodeficiency 18 ISO RGD:1345184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12220334 CBL Cbl proto-oncogene gene DOID:0111972 immunodeficiency 19 ISO RGD:1345184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12220334 CBL Cbl proto-oncogene gene DOID:0111973 immunodeficiency 17 ISO RGD:1345184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12220334 CBL Cbl proto-oncogene gene DOID:10907 microcephaly ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12220334 CBL Cbl proto-oncogene gene DOID:11383 cryptorchidism ISO RGD:1345184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20694012 12220334 CBL Cbl proto-oncogene gene DOID:12336 male infertility ISO RGD:1345184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16301331 12220334 CBL Cbl proto-oncogene gene DOID:2155 malignant ovarian germ cell neoplasm ISO RGD:1345184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant germ cell tumor of ovary PMID:16199547|PMID:19571318|PMID:20694012|PMID:20955399|PMID:21901340|PMID:24033266|PMID:25741868|PMID:28492532 12220334 CBL Cbl proto-oncogene gene DOID:2156 ovarian germ cell cancer ISO RGD:1345184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian germ cell cancer PMID:16199547|PMID:19571318|PMID:20694012|PMID:20955399|PMID:21901340|PMID:24033266|PMID:25741868|PMID:28492532 12220334 CBL Cbl proto-oncogene gene DOID:224 transient cerebral ischemia treatment ISO RGD:1561386 D RGD:9068941 20200609 RGD PMID:18773943|REF_RGD_ID:4108486 12220334 CBL Cbl proto-oncogene gene DOID:3247 rhabdomyosarcoma ISO RGD:1345184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:17446348|PMID:20619386|PMID:22246246|PMID:25178484|PMID:25741868|PMID:28492532|PMID:33318624|PMID:33627783 12220334 CBL Cbl proto-oncogene gene DOID:3347 osteosarcoma ISO RGD:1345184 D RGD:9068941 20210521 RGD protein:decreased expression:bone PMID:22623369|REF_RGD_ID:126925238 12220334 CBL Cbl proto-oncogene gene DOID:3490 Noonan syndrome ISO RGD:1345184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome PMID:16199547|PMID:18698078|PMID:19571318|PMID:19620960|PMID:20595524|PMID:20619386|PMID:20644105|PMID:20694012|PMID:20955399|PMID:21901340|PMID:23823657|PMID:24033266|PMID:24458550|PMID:25358541|PMID:25741868|PMID:25952305|PMID:28492532|PMID:28589114 12220334 CBL Cbl proto-oncogene gene DOID:3529 central core disease ISO RGD:1345184 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:19387008|PMID:19620960|PMID:19901108|PMID:20951944|PMID:21828135|PMID:22733026|PMID:23690417|PMID:24033266|PMID:24728327|PMID:25224413|PMID:25741868|PMID:27069254|PMID:27854218|PMID:28492532|PMID:29296819 12220334 CBL Cbl proto-oncogene gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1561386 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: PMID:23143077|REF_RGD_ID:11038813 12220334 CBL Cbl proto-oncogene gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345184 D RGD:9068941 20200609 RGD DNA:missense mutations, loss of heterozygosity:multiple (human) PMID:20126411|REF_RGD_ID:11576301 12220334 CBL Cbl proto-oncogene gene DOID:4195 hyperglycemia ISO RGD:1561386 D RGD:9068941 20200609 RGD mRNA:increased expression:islet of Langerhans (rat) PMID:16644676|REF_RGD_ID:11576321 12220334 CBL Cbl proto-oncogene gene DOID:5419 schizophrenia ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12220334 CBL Cbl proto-oncogene gene DOID:6000 congestive heart failure ISO RGD:1345184 D RGD:9068941 20200609 RGD protein:increased expression:left ventricle myocardium, muscle cell (human) PMID:24583314|REF_RGD_ID:11251947 12220334 CBL Cbl proto-oncogene gene DOID:6000 congestive heart failure disease_progression ISO RGD:1345184 D RGD:9068941 20221027 RGD DNA:mutations: : PMID:33779075|REF_RGD_ID:155630627 12220334 CBL Cbl proto-oncogene gene DOID:614 lymphopenia onset ISO RGD:1558608 D RGD:9068941 20200609 RGD PMID:20404156|REF_RGD_ID:11038797 12220334 CBL Cbl proto-oncogene gene DOID:630 genetic disease ISO RGD:1345184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18698078|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20619386|PMID:20644105|PMID:20694012|PMID:20951944|PMID:21828135|PMID:22733026|PMID:22817890|PMID:23010802|PMID:23690417|PMID:23823657|PMID:24033266|PMID:24458550|PMID:24728327|PMID:24801577|PMID:25224413|PMID:25358541|PMID:25426838|PMID:25741868|PMID:25952305|PMID:26847329|PMID:27069254|PMID:27941868|PMID:28492532|PMID:28589114|PMID:29296819|PMID:31664448|PMID:33550024 12220334 CBL Cbl proto-oncogene gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1345184 D RGD:9068941 20210521 RGD PMID:26474280|REF_RGD_ID:11536137 12220334 CBL Cbl proto-oncogene gene DOID:865 vasculitis ISO RGD:1345184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20694012 12220334 CBL Cbl proto-oncogene gene DOID:9000081 Lymphatic Metastasis ISO RGD:1345184 D RGD:9068941 20210521 RGD associated with stomach carcinoma;protein:increased expression:stomach PMID:31611438|REF_RGD_ID:126925223 12220334 CBL Cbl proto-oncogene gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 12220334 CBL Cbl proto-oncogene gene DOID:9000941 Elliptocytosis 2 ISO RGD:1345184 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE PMID:17446348|PMID:20619386|PMID:22246246|PMID:25178484|PMID:25741868|PMID:28492532|PMID:33318624|PMID:33627783 12220334 CBL Cbl proto-oncogene gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:1561386 D RGD:9068941 20210521 RGD mRNA:increased expression:spinal cord PMID:30021515|REF_RGD_ID:126925240 12220334 CBL Cbl proto-oncogene gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1345184 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:CD5+ B cell: PMID:17804547|REF_RGD_ID:11038803 12220334 CBL Cbl proto-oncogene gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:1345184 D RGD:9068941 20200609 RGD DNA:hypophosphorylation:CD5+ B cell: PMID:17804547|REF_RGD_ID:11038803 12220334 CBL Cbl proto-oncogene gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1561386 D RGD:9068941 20200609 RGD PMID:16984225|REF_RGD_ID:2306289 12220334 CBL Cbl proto-oncogene gene DOID:9002854 Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia ISO RGD:1345184 D RGD:7240710 20180130 OMIM 12220334 CBL Cbl proto-oncogene gene DOID:9002854 Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia ISO RGD:1345184 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CBL SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia PMID:16199547|PMID:17446348|PMID:17576681|PMID:18698078|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20543203|PMID:20595524|PMID:20619386|PMID:20694012|PMID:20951944|PMID:20955399|PMID:21828135|PMID:21901340|PMID:22246246|PMID:22733026|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24458550|PMID:24493670|PMID:24728327|PMID:24803665|PMID:24896146|PMID:25178484|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25731833|PMID:25741868|PMID:25939664|PMID:25952305|PMID:26580448|PMID:27069254|PMID:27784745|PMID:28414188|PMID:28492532|PMID:28589114|PMID:28957739|PMID:29296819|PMID:31101757|PMID:31333075|PMID:31568572|PMID:31664448|PMID:31970404|PMID:32533790|PMID:32933826|PMID:33318624|PMID:33337535|PMID:33550024|PMID:33627783|PMID:9536098 12220334 CBL Cbl proto-oncogene gene DOID:9003091 Noonan Like Syndrome ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan-like syndrome PMID:19620960|PMID:20951944|PMID:24033266|PMID:25741868|PMID:27069254|PMID:28492532|PMID:29296819 12220334 CBL Cbl proto-oncogene gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12220334 CBL Cbl proto-oncogene gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345184 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12220334 CBL Cbl proto-oncogene gene DOID:9004441 Experimental Leukemia treatment ISO RGD:1558608 D RGD:9068941 20200609 RGD PMID:20890046|REF_RGD_ID:11038805 12220334 CBL Cbl proto-oncogene gene DOID:9006182 Carotid Artery Injuries ISO RGD:1561386 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:tyrosine: PMID:18663086|REF_RGD_ID:11038825 12220334 CBL Cbl proto-oncogene gene DOID:9006257 Growth Disorders ISO RGD:1345184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20694012 12220334 CBL Cbl proto-oncogene gene DOID:9006532 Hematologic Neoplasms ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hematologic neoplasm PMID:19571318|PMID:20543203|PMID:20694012|PMID:23696637|PMID:24803665|PMID:25283271|PMID:25741868|PMID:25952305|PMID:28414188|PMID:28492532|PMID:32933826 12220334 CBL Cbl proto-oncogene gene DOID:9007096 Stroke ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868 12220334 CBL Cbl proto-oncogene gene DOID:9007661 Dwarfism ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12220334 CBL Cbl proto-oncogene gene DOID:9007838 Myocardial Reperfusion Injury severity ISO RGD:1558608 D RGD:9068941 20200609 RGD PMID:24583314|REF_RGD_ID:11251947 12220334 CBL Cbl proto-oncogene gene DOID:9008086 Developmental Disabilities ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12220334 CBL Cbl proto-oncogene gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1345184 D RGD:9068941 20200609 RGD associated with Myelodysplastic Syndromes;DNA:mutations:exons: PMID:22131879|REF_RGD_ID:11038796 12220334 CBL Cbl proto-oncogene gene DOID:9256 colorectal cancer disease_progression ISO RGD:1345184 D RGD:9068941 20210521 RGD PMID:30029779|REF_RGD_ID:126925222 12220334 CBL Cbl proto-oncogene gene DOID:9538 multiple myeloma ISO RGD:1345184 D RGD:9068941 20200609 RGD mRNA:decreased expression:mononuclear cell: PMID:23948411|REF_RGD_ID:11038794 12220334 CBL Cbl proto-oncogene gene DOID:9744 type 1 diabetes mellitus ISO RGD:1561386 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic lymph node, mast cell (rat) PMID:17082646|REF_RGD_ID:1598972 12220354 RASA4B RAS p21 protein activator 4B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2306251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12220385 RYR1 ryanodine receptor 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:18813041|PMID:20301325|PMID:21878807|PMID:21918424|PMID:22473935|PMID:23329375|PMID:23394784|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27058611|PMID:27147545|PMID:27153395|PMID:28492532 12220385 RYR1 ryanodine receptor 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:18813041|PMID:20301325|PMID:21878807|PMID:21918424|PMID:22473935|PMID:23329375|PMID:23394784|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27058611|PMID:27147545|PMID:27153395|PMID:28492532|PMID:30155738|PMID:30236257|PMID:30406384|PMID:30842289|PMID:33646171 12220385 RYR1 ryanodine receptor 1 gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 PMID:25741868|PMID:28492532 12220385 RYR1 ryanodine receptor 1 gene DOID:0050646 distal arthrogryposis ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:25741868 12220385 RYR1 ryanodine receptor 1 gene DOID:0050700 cardiomyopathy ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 12220385 RYR1 ryanodine receptor 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SLEEP APNEA/HYPOPNEA SYNDROME PMID:25741868|PMID:28492532 12220385 RYR1 ryanodine receptor 1 gene DOID:0060249 scoliosis ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:17483490|PMID:18253926|PMID:19191329|PMID:19645060|PMID:21062345|PMID:22473935|PMID:23553787|PMID:23919265|PMID:24033266|PMID:24091937|PMID:25741868|PMID:28492532|PMID:32899693|PMID:34106991 12220385 RYR1 ryanodine receptor 1 gene DOID:0060260 ptosis ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ptosis PMID:10484775|PMID:11575529|PMID:12059893|PMID:12220451|PMID:12434264|PMID:16084090|PMID:16835904|PMID:16917943|PMID:18564|PMID:19648156|PMID:19919814|PMID:21118704|PMID:21514828|PMID:23558838|PMID:23919265|PMID:24033266|PMID:24433488|PMID:25558065|PMID:25741868|PMID:25960145|PMID:27586648|PMID:28492532|PMID:30236257|PMID:31206373|PMID:9497245 12220385 RYR1 ryanodine receptor 1 gene DOID:0060604 ankyloglossia ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tongue tie PMID:16835904|PMID:24033266|PMID:25741868 12220385 RYR1 ryanodine receptor 1 gene DOID:0080000 muscular disease ISO RGD:1316413 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:12467748|PMID:12565913|PMID:1256913|PMID:14670767|PMID:15731587|PMID:16199547|PMID:16917943|PMID:18414213|PMID:20583297|PMID:20839240|PMID:22473935|PMID:23183335|PMID:23553787|PMID:23558838|PMID:23919265|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25960145|PMID:28325813|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29576327|PMID:30155738 12220385 RYR1 ryanodine receptor 1 gene DOID:0080100 congenital myopathy ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myopathy PMID:17033962|PMID:18414213|PMID:20080402|PMID:20583297|PMID:20839240|PMID:21911697|PMID:22473935|PMID:23035052|PMID:23394784|PMID:23553787|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24195946|PMID:25428687|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:26019235|PMID:26332594|PMID:27382027|PMID:28492532|PMID:28818389|PMID:30122538|PMID:30325262|PMID:30652412|PMID:30724636|PMID:31407473|PMID:31680123|PMID:32054689|PMID:32236737|PMID:32978841|PMID:33458582|PMID:33767344|PMID:34463354 12220385 RYR1 ryanodine receptor 1 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10097181|PMID:11274444|PMID:11575529|PMID:11709545|PMID:11741831|PMID:12123492|PMID:12642598|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15448513|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16380615|PMID:16621918|PMID:16732084|PMID:16917943|PMID:16940|PMID:16940308|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:18171678|PMID:18253|PMID:18253926|PMID:18414213|PMID:18564801|PMID:18765655|PMID:19191333|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19825159|PMID:20142353|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:21062345|PMID:21157159|PMID:21674524|PMID:21825032|PMID:21911697|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22992668|PMID:23329375|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24950660|PMID:25084811|PMID:25214167|PMID:25256590|PMID:25326635|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26381711|PMID:26467025|PMID:26633545|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28818389|PMID:29172004|PMID:29293505|PMID:29382405|PMID:30155738|PMID:30236257|PMID:30611313|PMID:30652412|PMID:30788618|PMID:31055738|PMID:31407473|PMID:31559918|PMID:31680123|PMID:34008892|PMID:4149045|PMID:7299413|PMID:8661021|PMID:9199552 12220385 RYR1 ryanodine receptor 1 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1316413 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10097181|PMID:11274444|PMID:11709545|PMID:11741831|PMID:12123492|PMID:12642598|PMID:15175001|PMID:15210166|PMID:15221887|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16380615|PMID:16621918|PMID:16732084|PMID:16917943|PMID:16940|PMID:16940308|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:18171678|PMID:18253|PMID:18253926|PMID:18414213|PMID:18564801|PMID:18765655|PMID:19191333|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19825159|PMID:20142353|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:21062345|PMID:21157159|PMID:21674524|PMID:21825032|PMID:21911697|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22992668|PMID:23329375|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24950660|PMID:25084811|PMID:25214167|PMID:25256590|PMID:25326635|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28818389|PMID:29172004|PMID:29298851|PMID:29382405|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30611313|PMID:30652412|PMID:30788618|PMID:31055738|PMID:31127727|PMID:31407473|PMID:31559918|PMID:31680123|PMID:31903994|PMID:32528171|PMID:32978841|PMID:33333461|PMID:34008892|PMID:34463354|PMID:35535697|PMID:4149045|PMID:7299413|PMID:8661021|PMID:9199552 12220385 RYR1 ryanodine receptor 1 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27918309|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:35285867|PMID:35535697|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 12220385 RYR1 ryanodine receptor 1 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:35285867|PMID:35535697|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 12220385 RYR1 ryanodine receptor 1 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:35285867|PMID:35535697|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 12220385 RYR1 ryanodine receptor 1 gene DOID:0080700 caudal regression syndrome ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of sacrum PMID:10484775|PMID:11575529|PMID:12059893|PMID:12220451|PMID:12434264|PMID:16084090|PMID:16835904|PMID:16917943|PMID:18564|PMID:19648156|PMID:19919814|PMID:21118704|PMID:21514828|PMID:23558838|PMID:23919265|PMID:24033266|PMID:24433488|PMID:25558065|PMID:25741868|PMID:25960145|PMID:27586648|PMID:28492532|PMID:30236257|PMID:31206373|PMID:9497245 12220385 RYR1 ryanodine receptor 1 gene DOID:0080718 GNE myopathy ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing PMID:25741868|PMID:28492532 12220385 RYR1 ryanodine receptor 1 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita | ClinVar Annotator: match by term: Guérin-Stern syndrome | ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis PMID:20839240|PMID:21911697|PMID:22473935|PMID:22526018|PMID:23394784|PMID:23826317|PMID:24195946|PMID:25658027|PMID:25735680|PMID:25741868|PMID:28492532|PMID:28818389|PMID:30611313|PMID:30652412|PMID:31407473|PMID:31559918|PMID:31680123|PMID:32978841|PMID:34463354 12220385 RYR1 ryanodine receptor 1 gene DOID:0080990 King Denborough syndrome ISO RGD:1316413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: King Denborough syndrome | ClinVar Annotator: match by term: King syndrome PMID:10051009|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21514828|PMID:21795085|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22415532|PMID:22473935|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25086907|PMID:25214167|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25558065|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26578207|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30155738|PMID:30236257|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:35285867|PMID:35535697|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 12220385 RYR1 ryanodine receptor 1 gene DOID:0080991 multiminicore disease ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 12220385 RYR1 ryanodine receptor 1 gene DOID:0080991 multiminicore disease ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:10888602|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12719381|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19807743|PMID:19825159|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26467025|PMID:26565425|PMID:26633545|PMID:26841830|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27066551|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27353517|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27854218|PMID:28003660|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34463354|PMID:34528764|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35535697|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8828983|PMID:9334205 12220385 RYR1 ryanodine receptor 1 gene DOID:0080991 multiminicore disease susceptibility ISO RGD:1316413 D RGD:7240710 20230505 OMIM 12220385 RYR1 ryanodine receptor 1 gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:1316413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Multi-minicore disease and atypical periodic paralysis | ClinVar Annotator: match by term: Multiminicore/minicore/multicore disease PMID:17033962|PMID:18414213|PMID:20080402|PMID:20583297|PMID:20839240|PMID:21674524|PMID:21911697|PMID:22473935|PMID:23553787|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24950660|PMID:24951453|PMID:25214167|PMID:25476234|PMID:25525159|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25958340|PMID:25960145|PMID:26332594|PMID:26633545|PMID:27854218|PMID:28492532|PMID:28818389|PMID:30609409|PMID:30611313|PMID:31680349|PMID:33333461|PMID:34008892 12220385 RYR1 ryanodine receptor 1 gene DOID:0110660 congenital myasthenic syndrome 12 ISO RGD:1316413 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Myasthenia, congenital, 12, with tubular aggregates PMID:25741868|PMID:28492532|PMID:29635721 12220385 RYR1 ryanodine receptor 1 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:24195946|PMID:25741868|PMID:28259615|PMID:28492532|PMID:33564012|PMID:34008892 12220385 RYR1 ryanodine receptor 1 gene DOID:0111375 fetal akinesia deformation sequence syndrome ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 PMID:20839240|PMID:21911697|PMID:22473935|PMID:23394784|PMID:25658027|PMID:25735680|PMID:25741868|PMID:28492532|PMID:30652412|PMID:31407473|PMID:31680123|PMID:32978841|PMID:34463354 12220385 RYR1 ryanodine receptor 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence PMID:20839240|PMID:21911697|PMID:22473935|PMID:23394784|PMID:25658027|PMID:25735680|PMID:25741868|PMID:28492532|PMID:30652412|PMID:31407473|PMID:31680123|PMID:32978841|PMID:34463354 12220385 RYR1 ryanodine receptor 1 gene DOID:11476 osteoporosis ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:25741868|PMID:28492532 12220385 RYR1 ryanodine receptor 1 gene DOID:11836 clubfoot ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Talipes Equinovarus PMID:16380615|PMID:17033962|PMID:17365175|PMID:17483490|PMID:18253|PMID:18253926|PMID:21911697|PMID:25741868|PMID:28492532|PMID:30611313|PMID:7299413 12220385 RYR1 ryanodine receptor 1 gene DOID:14717 centronuclear myopathy ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Centronuclear myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:22473935|PMID:25741868|PMID:28492532 12220385 RYR1 ryanodine receptor 1 gene DOID:1657 ventricular septal defect ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:16835904|PMID:24033266|PMID:25741868 12220385 RYR1 ryanodine receptor 1 gene DOID:1686 glaucoma ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma PMID:25741868|PMID:28492532 12220385 RYR1 ryanodine receptor 1 gene DOID:1882 atrial heart septal defect ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:16835904|PMID:24033266|PMID:25741868 12220385 RYR1 ryanodine receptor 1 gene DOID:3529 central core disease ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease of muscle | ClinVar Annotator: match by term: Central core disease, autosomal recessive | ClinVar Annotator: match by term: Central core myopathy | ClinVar Annotator: match by term: Shy-Magee syndrome PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12112081|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:12566385|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958053|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204054|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18312400|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21156754|PMID:21157159|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:21989361|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28750945|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409 12220385 RYR1 ryanodine receptor 1 gene DOID:3529 central core disease ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease of muscle | ClinVar Annotator: match by term: Central core disease, autosomal recessive | ClinVar Annotator: match by term: Central core myopathy | ClinVar Annotator: match by term: Shy-Magee syndrome PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31321302|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680123|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32573669|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34463354|PMID:34535181|PMID:34539730|PMID:34809703|PMID:35285867|PMID:35535697|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9030597|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 12220385 RYR1 ryanodine receptor 1 gene DOID:3529 central core disease susceptibility ISO RGD:1316413 D RGD:7240710 20230505 OMIM 12220385 RYR1 ryanodine receptor 1 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:25741868|PMID:28492532 12220385 RYR1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:10097181|PMID:11274444|PMID:11575529|PMID:11709545|PMID:11741831|PMID:12123492|PMID:12642598|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15448513|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16380615|PMID:16621918|PMID:16732084|PMID:16917943|PMID:16940|PMID:16940308|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:18171678|PMID:18253|PMID:18253926|PMID:18414213|PMID:18564801|PMID:18765655|PMID:19191333|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19825159|PMID:20142353|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:21062345|PMID:21157159|PMID:21674524|PMID:21825032|PMID:21911697|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22992668|PMID:23329375|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24950660|PMID:25084811|PMID:25214167|PMID:25256590|PMID:25326635|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28818389|PMID:29172004|PMID:29293505|PMID:29298851|PMID:29382405|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30611313|PMID:30652412|PMID:30788618|PMID:31055738|PMID:31127727|PMID:31407473|PMID:31559918|PMID:31680123|PMID:31903994|PMID:32528171|PMID:33333461|PMID:34008892|PMID:4149045|PMID:7299413|PMID:8661021|PMID:9199552 12220385 RYR1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:10097181|PMID:11274444|PMID:11709545|PMID:11741831|PMID:12123492|PMID:12642598|PMID:15175001|PMID:15210166|PMID:15221887|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16380615|PMID:16621918|PMID:16732084|PMID:16917943|PMID:16940|PMID:16940308|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:18171678|PMID:18253|PMID:18253926|PMID:18414213|PMID:18564801|PMID:18765655|PMID:19191333|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19825159|PMID:20142353|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:21062345|PMID:21157159|PMID:21674524|PMID:21825032|PMID:21911697|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22992668|PMID:23329375|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24950660|PMID:25084811|PMID:25214167|PMID:25256590|PMID:25326635|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28818389|PMID:29172004|PMID:29298851|PMID:29382405|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30611313|PMID:30652412|PMID:30788618|PMID:31055738|PMID:31127727|PMID:31407473|PMID:31559918|PMID:31680123|PMID:31903994|PMID:32528171|PMID:32978841|PMID:33333461|PMID:34008892|PMID:34463354|PMID:4149045|PMID:7299413|PMID:8661021|PMID:9199552 12220385 RYR1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:35285867|PMID:35535697|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 12220385 RYR1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:35285867|PMID:35535697|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 12220385 RYR1 ryanodine receptor 1 gene DOID:423 myopathy ISO RGD:1316413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myopathy PMID:12467748|PMID:12565913|PMID:1256913|PMID:14670767|PMID:15731587|PMID:16199547|PMID:16917943|PMID:18414213|PMID:20583297|PMID:20839240|PMID:22473935|PMID:23183335|PMID:23553787|PMID:23558838|PMID:23919265|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25960145|PMID:28325813|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29576327|PMID:30155738 12220385 RYR1 ryanodine receptor 1 gene DOID:440 neuromuscular disease ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuromuscular disorder PMID:16917943|PMID:17033962|PMID:17483490|PMID:17576681|PMID:18253926|PMID:18414213|PMID:19191329|PMID:19645060|PMID:20080402|PMID:20583297|PMID:20839240|PMID:21062345|PMID:21455645|PMID:21911697|PMID:22473935|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23628358|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24627108|PMID:24951453|PMID:25476234|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26019235|PMID:26332594|PMID:26633545|PMID:27854218|PMID:28492532|PMID:28818389|PMID:30609409|PMID:30611313|PMID:30842289|PMID:31680349|PMID:33190635|PMID:33333461|PMID:9536098 12220385 RYR1 ryanodine receptor 1 gene DOID:4450 renal cell carcinoma ISO RGD:1316413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 12220385 RYR1 ryanodine receptor 1 gene DOID:543 dystonia ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868 12220385 RYR1 ryanodine receptor 1 gene DOID:630 genetic disease ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10051009|PMID:10352931|PMID:10484775|PMID:10700782|PMID:10756965|PMID:10793526|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:12059893|PMID:12066726|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:17033962|PMID:17081152|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18193641|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18945287|PMID:19191329|PMID:19191333|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:20142353|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20952238|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21965348|PMID:22473935|PMID:22992668|PMID:23394784|PMID:23459219|PMID:23476141|PMID:23553484|PMID:23558838|PMID:23628358|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24195946|PMID:24433488|PMID:24706162|PMID:25268394|PMID:25517095|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25882082|PMID:25957634|PMID:25960145|PMID:25987458|PMID:25989378|PMID:26381711|PMID:26467025|PMID:26951757|PMID:26994242|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27586648|PMID:27646467|PMID:27831900|PMID:27918309|PMID:28063098|PMID:28326467|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29178655|PMID:29382405|PMID:29635721|PMID:29792937|PMID:30155320|PMID:30236257|PMID:30236258|PMID:30406384|PMID:30499100|PMID:30611313|PMID:30788618|PMID:31016048|PMID:31135626|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33333461|PMID:34463354|PMID:34535181|PMID:34809703|PMID:35535697|PMID:4149045|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9030597|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9497245|PMID:9520251|PMID:9873004 12220385 RYR1 ryanodine receptor 1 gene DOID:8534 gastroesophageal reflux disease ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux PMID:25741868|PMID:28492532 12220385 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21088110|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:214555645|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25356970|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:28003660|PMID:28063098|PMID:28078069|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29576327|PMID:29608462|PMID:29635721|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384 12220385 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:31016048|PMID:31055738|PMID:31135626|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33490280|PMID:33625594|PMID:34008892|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 12220385 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29635721|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100 12220385 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:31016048|PMID:31055738|PMID:31135626|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:33625594|PMID:34008892|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 12220385 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29635721|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384 12220385 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:31016048|PMID:31055738|PMID:31135626|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:33625594|PMID:33767344|PMID:34008892|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 12220385 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29635721|PMID:29792937|PMID:30115273 12220385 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31135626|PMID:31206373|PMID:31301762|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34008892|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 12220385 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004 12220385 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32165824|PMID:32236737|PMID:32337335|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 12220385 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389 12220385 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32337335|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34463354|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 12220385 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721 12220385 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34463354|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 12220385 RYR1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia susceptibility ISO RGD:1316413 D RGD:7240710 20190502 OMIM 12220385 RYR1 ryanodine receptor 1 gene DOID:8927 learning disability ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:25741868|PMID:28492532 12220385 RYR1 ryanodine receptor 1 gene DOID:9000655 Hereditary Motor Neuropathy with Myopathic Features ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuromyopathy PMID:16917943|PMID:17033962|PMID:17483490|PMID:17576681|PMID:18253926|PMID:18414213|PMID:19191329|PMID:19645060|PMID:20080402|PMID:20583297|PMID:20839240|PMID:21062345|PMID:21455645|PMID:21911697|PMID:22473935|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23628358|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24627108|PMID:24951453|PMID:25476234|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26019235|PMID:26332594|PMID:26633545|PMID:27854218|PMID:28492532|PMID:28818389|PMID:30609409|PMID:30611313|PMID:30842289|PMID:31680349|PMID:33190635|PMID:33333461|PMID:9536098 12220385 RYR1 ryanodine receptor 1 gene DOID:9000884 Rhabdomyolysis ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:25741868|PMID:28779239 12220385 RYR1 ryanodine receptor 1 gene DOID:9002119 Malignant Hypothermia ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant hypothermia PMID:14732627|PMID:16163667|PMID:16732084|PMID:16917943|PMID:18253926|PMID:18414213|PMID:19191329|PMID:19191333|PMID:20839240|PMID:20981092|PMID:21455645|PMID:21503806|PMID:21674524|PMID:22913516|PMID:22995991|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23558838|PMID:23628358|PMID:24195946|PMID:25735680|PMID:25741868|PMID:25957634|PMID:26467025|PMID:26994242|PMID:27153395|PMID:28003660|PMID:28492532|PMID:30611313|PMID:30724636|PMID:33333461|PMID:33458582 12220385 RYR1 ryanodine receptor 1 gene DOID:9003163 Heart Block ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Heart block PMID:16835904|PMID:24033266|PMID:25741868 12220385 RYR1 ryanodine receptor 1 gene DOID:9003760 Myalgia ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myalgia PMID:24195946|PMID:25741868|PMID:28259615|PMID:28492532|PMID:33564012|PMID:34008892 12220385 RYR1 ryanodine receptor 1 gene DOID:9004757 Axial Myopathy, Late-Onset ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Axial myopathy, late-onset PMID:23329375|PMID:24033266|PMID:25741868|PMID:28492532 12220385 RYR1 ryanodine receptor 1 gene DOID:9005001 Congenital Neuromuscular Disease, with Uniform Type 1 Fiber ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuromuscular disease, congenital, with uniform type 1 fiber PMID:10888602|PMID:11709545|PMID:11741831|PMID:12565913|PMID:14670767|PMID:14732627|PMID:14985404|PMID:15731587|PMID:16163667|PMID:16372898|PMID:16621918|PMID:16732084|PMID:16835904|PMID:16917943|PMID:16940308|PMID:17081152|PMID:17226826|PMID:17365175|PMID:17483490|PMID:17538032|PMID:17576681|PMID:18414213|PMID:18719443|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19807743|PMID:20142353|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20981092|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21965348|PMID:22415532|PMID:22473935|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23460944|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25461839|PMID:25521991|PMID:25614869|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26332594|PMID:26467025|PMID:26565425|PMID:26994242|PMID:27147545|PMID:27153395|PMID:28003660|PMID:28326467|PMID:28492532|PMID:28496993|PMID:28687594|PMID:28818389|PMID:29178655|PMID:29298851|PMID:29382405|PMID:30122538|PMID:30325262|PMID:30724636|PMID:31135626|PMID:31559918|PMID:31742715|PMID:32098966|PMID:32528171|PMID:9536098 12220385 RYR1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28325813|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29382405|PMID:29576327|PMID:29608462|PMID:29635721|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:31016048|PMID:31055738|PMID:31135626|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994 12220385 RYR1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33625594|PMID:33767344|PMID:34008892|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 12220385 RYR1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29576327|PMID:29608462|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289 12220385 RYR1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31135626|PMID:31206373|PMID:31301762|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34008892|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 12220385 RYR1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30236258 12220385 RYR1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 12220385 RYR1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fulminating hyperpyrexia | ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538 12220385 RYR1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fulminating hyperpyrexia | ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34463354|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 12220385 RYR1 ryanodine receptor 1 gene DOID:9005532 Muscle Weakness ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868|PMID:28492532 12220385 RYR1 ryanodine receptor 1 gene DOID:9005560 Congenital Hip Dislocation ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital hip dislocation PMID:18813041|PMID:20301325|PMID:21878807|PMID:21918424|PMID:22473935|PMID:23329375|PMID:23394784|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27058611|PMID:27147545|PMID:27153395|PMID:28492532|PMID:30155738|PMID:30236257|PMID:30406384|PMID:30842289|PMID:33646171 12220385 RYR1 ryanodine receptor 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia PMID:16835904|PMID:24033266|PMID:25741868|PMID:28492532 12220385 RYR1 ryanodine receptor 1 gene DOID:9007052 Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, progressive axial with cataracts PMID:18813041|PMID:20301325|PMID:21878807|PMID:21918424|PMID:22473935|PMID:23329375|PMID:23394784|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27058611|PMID:27147545|PMID:27153395|PMID:28492532|PMID:30155738|PMID:30236257|PMID:30406384|PMID:30842289|PMID:33646171 12220385 RYR1 ryanodine receptor 1 gene DOID:9007661 Dwarfism ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:19191333|PMID:25741868|PMID:28492532|PMID:32403337|PMID:33333461|PMID:34106991 12220385 RYR1 ryanodine receptor 1 gene DOID:9007908 Aortic Coarctation ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Aorta coarctation PMID:16835904|PMID:24033266|PMID:25741868 12220385 RYR1 ryanodine receptor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12220385 RYR1 ryanodine receptor 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1316413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hydrops fetalis PMID:17033962|PMID:18414213|PMID:20080402|PMID:20583297|PMID:20839240|PMID:21911697|PMID:22473935|PMID:23553787|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24951453|PMID:25476234|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26633545|PMID:27854218|PMID:28492532|PMID:28818389|PMID:30609409|PMID:30611313|PMID:31680349|PMID:33333461 12220385 RYR1 ryanodine receptor 1 gene DOID:9008675 Dyskinesias ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Involuntary movements PMID:25741868 12220385 RYR1 ryanodine receptor 1 gene DOID:9008965 Bronchomalacia ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bronchomalacia PMID:16835904|PMID:24033266|PMID:25741868 12220385 RYR1 ryanodine receptor 1 gene DOID:9008993 Myotonia ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myotonia PMID:25741868|PMID:28492532 12220385 RYR1 ryanodine receptor 1 gene DOID:9410 panhypopituitarism ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Panhypopituitarism PMID:25741868|PMID:28492532 12220385 RYR1 ryanodine receptor 1 gene DOID:9970 obesity ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:28492532 12220385 Ryr1 ryanodine receptor 1, skeletal muscle gene DOID:9004649 Heat Stroke treatment ISO RGD:1316414 D RGD:9068941 20230520 RGD PMID:34257294|REF_RGD_ID:329812001 12220494 TANK TRAF family member associated NFKB activator gene DOID:0080600 COVID-19 ISO RGD:734196 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12220494 TANK TRAF family member associated NFKB activator gene DOID:12849 autistic disorder ISO RGD:734196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 12220494 TANK TRAF family member associated NFKB activator gene DOID:630 genetic disease ISO RGD:734196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12220494 TANK TRAF family member associated NFKB activator gene DOID:9008939 Breast Neoplasms ISO RGD:734196 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 12220532 ARFIP2 ADP ribosylation factor interacting protein 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1349532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12220532 ARFIP2 ADP ribosylation factor interacting protein 2 gene DOID:630 genetic disease ISO RGD:1349532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12220546 HSPB2 heat shock protein family B (small) member 2 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:731772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 12220546 HSPB2 heat shock protein family B (small) member 2 gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:731772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:25966638|PMID:28492532 12220546 HSPB2 heat shock protein family B (small) member 2 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:731772 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 12220546 HSPB2 heat shock protein family B (small) member 2 gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:731772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 12220546 HSPB2 heat shock protein family B (small) member 2 gene DOID:1059 intellectual disability ISO RGD:731772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12220546 HSPB2 heat shock protein family B (small) member 2 gene DOID:12704 ataxia telangiectasia ISO RGD:731772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12220546 HSPB2 heat shock protein family B (small) member 2 gene DOID:630 genetic disease ISO RGD:731772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12220546 HSPB2 heat shock protein family B (small) member 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:731772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12220546 HSPB2 heat shock protein family B (small) member 2 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:731772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 12220552 BAG1 BAG cochaperone 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1313091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12220552 BAG1 BAG cochaperone 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1313091 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12220552 BAG1 BAG cochaperone 1 gene DOID:0080600 COVID-19 ISO RGD:1313091 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12220552 BAG1 BAG cochaperone 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1313091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12220552 BAG1 BAG cochaperone 1 gene DOID:10283 prostate cancer ISO RGD:1313091 D RGD:9068941 20200609 RGD DNA, protein:amplification, increased expression:prostate gland PMID:17503439|REF_RGD_ID:2293885 12220552 BAG1 BAG cochaperone 1 gene DOID:12528 lesion of sciatic nerve ISO RGD:1305203 D RGD:9068941 20200609 RGD PMID:23108487|REF_RGD_ID:13506903 12220552 BAG1 BAG cochaperone 1 gene DOID:12858 Huntington's disease treatment ISO RGD:1313092 D RGD:9068941 20200609 RGD PMID:18400759|REF_RGD_ID:13506921 12220552 BAG1 BAG cochaperone 1 gene DOID:1380 endometrial cancer ISO RGD:1313091 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:15297164|REF_RGD_ID:2293886 12220552 BAG1 BAG cochaperone 1 gene DOID:1612 breast cancer disease_progression ISO RGD:1313091 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:11181661|REF_RGD_ID:2293888 12220552 BAG1 BAG cochaperone 1 gene DOID:2893 cervix carcinoma ISO RGD:1313091 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:10047462|REF_RGD_ID:2293889 12220552 BAG1 BAG cochaperone 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:1313091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19066611 12220552 BAG1 BAG cochaperone 1 gene DOID:630 genetic disease ISO RGD:1313091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12220552 BAG1 BAG cochaperone 1 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1313091 D RGD:9068941 20200609 RGD associated with Breast Neoplasms:protein:increased expression:breast PMID:18430249|REF_RGD_ID:2292908 12220552 BAG1 BAG cochaperone 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1305203 D RGD:9068941 20200609 RGD PMID:12215270|REF_RGD_ID:2296021 12220552 BAG1 BAG cochaperone 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1313091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19066611 12220552 BAG1 BAG cochaperone 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12220552 BAG1 BAG cochaperone 1 gene DOID:9870 galactosemia ISO RGD:1313091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12220563 CMC4 C-X9-C motif containing 4 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:2308876 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12220563 CMC4 C-X9-C motif containing 4 gene DOID:0050476 Barth syndrome ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12220563 CMC4 C-X9-C motif containing 4 gene DOID:0050800 creatine transporter deficiency ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12220563 CMC4 C-X9-C motif containing 4 gene DOID:0112003 immunodeficiency 33 ISO RGD:2308876 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12220563 CMC4 C-X9-C motif containing 4 gene DOID:10588 adrenoleukodystrophy ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12220563 CMC4 C-X9-C motif containing 4 gene DOID:11372 megacolon ISO RGD:2308876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12220563 CMC4 C-X9-C motif containing 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12220563 CMC4 C-X9-C motif containing 4 gene DOID:12849 autistic disorder ISO RGD:2308876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12220563 CMC4 C-X9-C motif containing 4 gene DOID:13628 favism ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12220563 CMC4 C-X9-C motif containing 4 gene DOID:2729 dyskeratosis congenita ISO RGD:2308876 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12220563 CMC4 C-X9-C motif containing 4 gene DOID:607 paraplegia ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12220563 CMC4 C-X9-C motif containing 4 gene DOID:630 genetic disease ISO RGD:2308876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12220563 CMC4 C-X9-C motif containing 4 gene DOID:9002720 Splenomegaly ISO RGD:2308876 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12220588 ERBIN erbb2 interacting protein gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1321667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12220588 ERBIN erbb2 interacting protein gene DOID:10283 prostate cancer ISO RGD:1321667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12220588 ERBIN erbb2 interacting protein gene DOID:630 genetic disease ISO RGD:1321667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12220588 ERBIN erbb2 interacting protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12220628 CCL21 C-C motif chemokine ligand 21 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1323745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12220628 CCL21 C-C motif chemokine ligand 21 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1323745 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12220628 CCL21 C-C motif chemokine ligand 21 gene DOID:0080942 anauxetic dysplasia ISO RGD:1323745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12220628 CCL21 C-C motif chemokine ligand 21 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1323745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12220628 CCL21 C-C motif chemokine ligand 21 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1323745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12220628 CCL21 C-C motif chemokine ligand 21 gene DOID:3770 pulmonary fibrosis ISO RGD:1323745 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17717200|REF_RGD_ID:5130910 12220628 CCL21 C-C motif chemokine ligand 21 gene DOID:630 genetic disease ISO RGD:1323745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12220628 CCL21 C-C motif chemokine ligand 21 gene DOID:7148 rheumatoid arthritis ISO RGD:1323745 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18794853|PMID:20453842|PMID:23143596 12220628 CCL21 C-C motif chemokine ligand 21 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1323745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12220628 CCL21 C-C motif chemokine ligand 21 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:1323745 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:23593305|REF_RGD_ID:38508895 12220628 CCL21 C-C motif chemokine ligand 21 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1323745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12220628 CCL21 C-C motif chemokine ligand 21 gene DOID:9870 galactosemia ISO RGD:1323745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12220633 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:0050713 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency ISO RGD:1601870 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency PMID:10545952|PMID:11673586|PMID:12020273|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18924171|PMID:19879173|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:27290639|PMID:28492532|PMID:28798025|PMID:29193756|PMID:29351582|PMID:31589614|PMID:31623504|PMID:32668698|PMID:33098801|PMID:34426522|PMID:34691145 12220633 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:0060041 autism spectrum disorder ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12220633 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1601870 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12220633 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:0080119 mitochondrial DNA depletion syndrome 1 ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 PMID:23643385|PMID:25741868|PMID:28492532 12220633 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:23643385|PMID:25741868|PMID:28492532 12220633 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12220633 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:0080357 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 ISO RGD:1601870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 PMID:10545952|PMID:10749987|PMID:11673586|PMID:12020273|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18804471|PMID:18924171|PMID:19879173|PMID:20159436|PMID:23345593|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:25959673|PMID:27290639|PMID:28492532|PMID:28518168|PMID:28798025|PMID:29193756|PMID:29351582|PMID:30593977|PMID:31589614|PMID:31623504|PMID:32461654|PMID:32668698|PMID:33098801|PMID:33171185|PMID:34426522|PMID:34691145 12220633 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12220633 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1601870 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 12220633 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1601870 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12220633 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:1059 intellectual disability ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12220633 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:11832 visual epilepsy ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:10545952|PMID:11673586|PMID:12020273|PMID:14970747|PMID:15210538|PMID:16326995|PMID:16765077|PMID:23643385|PMID:23719228|PMID:25741868|PMID:28492532 12220633 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1601870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10545952|PMID:15210538|PMID:19879173|PMID:20159436|PMID:25741868|PMID:28492532 12220633 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:1826 epilepsy ISO RGD:1601870 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizures PMID:10545952|PMID:11673586|PMID:12020273|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18924171|PMID:19879173|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:27290639|PMID:28492532|PMID:28798025|PMID:29193756|PMID:29351582|PMID:31589614|PMID:31623504|PMID:32668698|PMID:33098801|PMID:34426522|PMID:34691145 12220633 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1601870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:23643385|PMID:25741868|PMID:25959673|PMID:28492532|PMID:28518168|PMID:32461654 12220633 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:630 genetic disease ISO RGD:1601870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23643385|PMID:25741868|PMID:25959673|PMID:28492532|PMID:28518168|PMID:32461654 12220633 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:9001263 Mitochondrial DNA Depletion Syndrome, MNGIE Type ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:23643385|PMID:25741868|PMID:28492532 12220633 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:9004853 Myopia 6 ISO RGD:1601870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopia 6 | ClinVar Annotator: match by term: Myopia, susceptibility to PMID:10545952|PMID:10749987|PMID:11673586|PMID:12020273|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18924171|PMID:19879173|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:25959673|PMID:27290639|PMID:28492532|PMID:28518168|PMID:28798025|PMID:29193756|PMID:29351582|PMID:31589614|PMID:31623504|PMID:32461654|PMID:32668698|PMID:33098801|PMID:33171185|PMID:34426522|PMID:34691145 12220633 NCAPH2 non-SMC condensin II complex subunit H2 gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:23643385|PMID:25741868|PMID:28492532 12220674 TMEM131 transmembrane protein 131 gene DOID:630 genetic disease ISO RGD:1606821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12220719 SLC27A6 solute carrier family 27 member 6 gene DOID:0060224 atrial fibrillation ISO RGD:1323714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12220719 SLC27A6 solute carrier family 27 member 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323714 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12220719 SLC27A6 solute carrier family 27 member 6 gene DOID:5844 myocardial infarction ISO RGD:1311977 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:17034771|REF_RGD_ID:1642800 12220719 SLC27A6 solute carrier family 27 member 6 gene DOID:630 genetic disease ISO RGD:1323714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12220719 SLC27A6 solute carrier family 27 member 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1323714 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 12220719 SLC27A6 solute carrier family 27 member 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12220719 SLC27A6 solute carrier family 27 member 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323714 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12220734 GOLM1 golgi membrane protein 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1322921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12220734 GOLM1 golgi membrane protein 1 gene DOID:630 genetic disease ISO RGD:1322921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12220734 GOLM1 golgi membrane protein 1 gene DOID:9006205 Animal Disease Models ISO RGD:1322921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12220747 C3 complement C3 gene DOID:0060284 paroxysmal nocturnal hemoglobinuria ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased processing:erythrocyte PMID:6915939|REF_RGD_ID:11040769 12220747 C3 complement C3 gene DOID:0080162 lupus nephritis ISO RGD:735504 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21888025|REF_RGD_ID:7175544 12220747 C3 complement C3 gene DOID:0080162 lupus nephritis ISO RGD:735504 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:31182691 12220747 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome PMID:14639503|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20301541|PMID:20595690|PMID:21125405|PMID:23307876|PMID:23314101|PMID:23431077|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25951460|PMID:26283675|PMID:26613027|PMID:28492532|PMID:28596415|PMID:29566171|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30773290|PMID:32950058|PMID:33213850 12220747 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735504 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome PMID:14639503|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20203157|PMID:20301541|PMID:20595690|PMID:21125405|PMID:22246034|PMID:22669319|PMID:23307876|PMID:23314101|PMID:23431077|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25879158|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:28187980|PMID:28492532|PMID:28596415|PMID:29500241|PMID:29566171|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30773290|PMID:30890598|PMID:31865800|PMID:32265146|PMID:32342491|PMID:32950058|PMID:33213850 12220747 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome PMID:14639503|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20203157|PMID:20301541|PMID:20595690|PMID:21125405|PMID:22246034|PMID:22669319|PMID:23307876|PMID:23314101|PMID:23431077|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25879158|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:28187980|PMID:28492532|PMID:28596415|PMID:28752844|PMID:29500241|PMID:29566171|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30773290|PMID:30890598|PMID:31865800|PMID:32265146|PMID:32342491|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33456446|PMID:33609329|PMID:34169201 12220747 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome susceptibility ISO RGD:735504 D RGD:7240710 20230505 OMIM 12220747 C3 complement C3 gene DOID:0080490 mucolipidosis type IV ISO RGD:735504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12220747 C3 complement C3 gene DOID:0080600 COVID-19 severity ISO RGD:735504 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32434211|REF_RGD_ID:30310238 12220747 C3 complement C3 gene DOID:0080600 COVID-19 severity ISO RGD:735504 D RGD:9068941 20200813 RGD DNA:SNPs: :rs1047286,rs2230203,rs2230199(human) PMID:32747830|REF_RGD_ID:38500238 12220747 C3 complement C3 gene DOID:0080750 erythema nodosum ISO RGD:735504 D RGD:9068941 20200609 RGD associated with Leprosy PMID:2783924|REF_RGD_ID:7421527 12220747 C3 complement C3 gene DOID:0110019 age related macular degeneration 7 ISO RGD:735504 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :multiple PMID:19899988|REF_RGD_ID:7401252 12220747 C3 complement C3 gene DOID:0110021 age related macular degeneration 9 ISO RGD:735504 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 9 | ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO PMID:12462331|PMID:14639503|PMID:16687714|PMID:17576681|PMID:17634448|PMID:17767156|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19259132|PMID:19590060|PMID:1976733|PMID:20595690|PMID:20664795|PMID:21125405|PMID:21501302|PMID:21576320|PMID:22669319|PMID:22718507|PMID:23112567|PMID:23307876|PMID:23314101|PMID:23431077|PMID:23455636|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25431709|PMID:25608561|PMID:25741868|PMID:25951460|PMID:26283675|PMID:26613027|PMID:27722136|PMID:28492532|PMID:28596415|PMID:28752844|PMID:29566171|PMID:29888403|PMID:30046676|PMID:30131807|PMID:31042289|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33609329|PMID:34169201|PMID:7870343|PMID:9536098 12220747 C3 complement C3 gene DOID:0110021 age related macular degeneration 9 susceptibility ISO RGD:735504 D RGD:7240710 20230505 OMIM 12220747 C3 complement C3 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:10256 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:kidney PMID:17960140|REF_RGD_ID:7175542 12220747 C3 complement C3 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:735504 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:kidney PMID:17960140|REF_RGD_ID:7175542 12220747 C3 complement C3 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:735504 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:17634448|PMID:18325906|PMID:19168221|PMID:1976733|PMID:25741868|PMID:28492532 12220747 C3 complement C3 gene DOID:10247 pleurisy ISO RGD:10256 D RGD:9068941 20200609 RGD protein:increased activity:pleural cavity PMID:18256172|REF_RGD_ID:5129520 12220747 C3 complement C3 gene DOID:10325 silicosis ISO RGD:735504 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:12096683|REF_RGD_ID:5129516 12220747 C3 complement C3 gene DOID:10591 pre-eclampsia treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:23685261|REF_RGD_ID:7411624 12220747 C3 complement C3 gene DOID:10652 Alzheimer's disease ISO RGD:735504 D RGD:9068941 20200609 RGD DNA:SNP: :rs22300199 (human) PMID:22300950|REF_RGD_ID:7401250 12220747 C3 complement C3 gene DOID:10690 mastitis ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:8746955|REF_RGD_ID:7401278 12220747 C3 complement C3 gene DOID:10754 otitis media ISO RGD:10256 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections PMID:21502587|REF_RGD_ID:7401269 12220747 C3 complement C3 gene DOID:10754 otitis media ISO RGD:8719081 D RGD:9068941 20200609 RGD PMID:19139190|REF_RGD_ID:11554035 12220747 C3 complement C3 gene DOID:10763 hypertension ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:22416803|REF_RGD_ID:11040890 12220747 C3 complement C3 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:735504 D RGD:9068941 20200609 RGD DNA:SNP: :rs2241394 (human) PMID:22174912|REF_RGD_ID:7401249 12220747 C3 complement C3 gene DOID:10887 lepromatous leprosy severity ISO RGD:735504 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:6342123|REF_RGD_ID:7411735 12220747 C3 complement C3 gene DOID:10923 sickle cell anemia severity ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:3896597|REF_RGD_ID:11040777 12220747 C3 complement C3 gene DOID:10923 sickle cell anemia severity ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased processing PMID:7554454|REF_RGD_ID:11040773 12220747 C3 complement C3 gene DOID:10976 membranous glomerulonephritis ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:10729746|REF_RGD_ID:5129563 12220747 C3 complement C3 gene DOID:10976 membranous glomerulonephritis ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25954969 12220747 C3 complement C3 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1353212 12220747 C3 complement C3 gene DOID:11339 pneumocystosis ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:17169032|REF_RGD_ID:5129525 12220747 C3 complement C3 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased activation:respiratory system fluid/secretion PMID:3826891|REF_RGD_ID:5130153 12220747 C3 complement C3 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:2784515|REF_RGD_ID:5129694 12220747 C3 complement C3 gene DOID:11446 sciatic neuropathy ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve PMID:18052971|REF_RGD_ID:5129535 12220747 C3 complement C3 gene DOID:11555 Fuchs' endothelial dystrophy ISO RGD:735504 D RGD:9068941 20200609 RGD protein:decreased expression:aqueous humour PMID:21139973|REF_RGD_ID:7401271 12220747 C3 complement C3 gene DOID:12134 factor VIII deficiency ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:6912882|REF_RGD_ID:11041156 12220747 C3 complement C3 gene DOID:12306 vitiligo ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:12121667|REF_RGD_ID:7401277 12220747 C3 complement C3 gene DOID:12894 Sjogren's syndrome ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:17675493|REF_RGD_ID:7401265 12220747 C3 complement C3 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:735504 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:16687714|PMID:17634448|PMID:17767156|PMID:18325906|PMID:19168221|PMID:19259132|PMID:1976733|PMID:20664795|PMID:21576320|PMID:22718507|PMID:23112567|PMID:23455636|PMID:25741868|PMID:28492532|PMID:7870343 12220747 C3 complement C3 gene DOID:13406 pulmonary sarcoidosis ISO RGD:735504 D RGD:9068941 20200609 RGD protein:altered expression:lung PMID:18069416|REF_RGD_ID:5129502 12220747 C3 complement C3 gene DOID:1407 anterior uveitis ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:eye anterior chamber, ciliary body, iris PMID:16751365|REF_RGD_ID:1600478 12220747 C3 complement C3 gene DOID:1407 anterior uveitis ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:6610667|REF_RGD_ID:7411736 12220747 C3 complement C3 gene DOID:14095 boutonneuse fever ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:3361150|REF_RGD_ID:11041575 12220747 C3 complement C3 gene DOID:1909 melanoma treatment ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:17146472|REF_RGD_ID:7401279 12220747 C3 complement C3 gene DOID:224 transient cerebral ischemia ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23199288 12220747 C3 complement C3 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:22004711|REF_RGD_ID:7411628 12220747 C3 complement C3 gene DOID:2316 brain ischemia ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:14561876|REF_RGD_ID:5129543 12220747 C3 complement C3 gene DOID:2452 thrombophilia treatment ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:15986360|REF_RGD_ID:11040779 12220747 C3 complement C3 gene DOID:2841 asthma ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:11591733|REF_RGD_ID:5129517 12220747 C3 complement C3 gene DOID:2841 asthma ISO RGD:10256 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:20802484|REF_RGD_ID:5129681 12220747 C3 complement C3 gene DOID:2841 asthma ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:20402389|REF_RGD_ID:5129537 12220747 C3 complement C3 gene DOID:2841 asthma ISO RGD:735504 D RGD:9068941 20200609 RGD DNA:SNP: :4896C>T (human) PMID:15278436|REF_RGD_ID:5129512 12220747 C3 complement C3 gene DOID:2841 asthma ISO RGD:735504 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs11569562 (human) PMID:18566738|REF_RGD_ID:5129501 12220747 C3 complement C3 gene DOID:2841 asthma ISO RGD:735504 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:16355111|REF_RGD_ID:5129505 12220747 C3 complement C3 gene DOID:2841 asthma ISO RGD:735504 D RGD:9068941 20200609 RGD Interaction with IL4RA PMID:20395963|REF_RGD_ID:5129538 12220747 C3 complement C3 gene DOID:2841 asthma severity ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20589464|REF_RGD_ID:5129519 12220747 C3 complement C3 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:735504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis PMID:32581362 12220747 C3 complement C3 gene DOID:2921 glomerulonephritis ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:11950907|REF_RGD_ID:5129550 12220747 C3 complement C3 gene DOID:2957 pulmonary tuberculosis ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:19472039|REF_RGD_ID:5129500 12220747 C3 complement C3 gene DOID:2986 IgA glomerulonephritis ISO RGD:735504 D RGD:9068941 20200609 RGD mRNA,protein:increased expression, increased activity:kidney PMID:11287758|REF_RGD_ID:7175543 12220747 C3 complement C3 gene DOID:3021 acute kidney failure ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12220747 C3 complement C3 gene DOID:3070 high grade glioma treatment ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:21678475|REF_RGD_ID:7401275 12220747 C3 complement C3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:17975205|REF_RGD_ID:5129504 12220747 C3 complement C3 gene DOID:321 tropical spastic paraparesis ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased processing:plasma PMID:7561187|REF_RGD_ID:11040775 12220747 C3 complement C3 gene DOID:3310 atopic dermatitis ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:3923750|REF_RGD_ID:7401273 12220747 C3 complement C3 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:19050293|REF_RGD_ID:5130169 12220747 C3 complement C3 gene DOID:3525 middle cerebral artery infarction ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22103620|REF_RGD_ID:7175514 12220747 C3 complement C3 gene DOID:3525 middle cerebral artery infarction ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23199288 12220747 C3 complement C3 gene DOID:418 systemic scleroderma ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:2803327|REF_RGD_ID:7421518 12220747 C3 complement C3 gene DOID:4448 macular degeneration ISO RGD:735504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:25741868|PMID:28492532 12220747 C3 complement C3 gene DOID:4483 rhinitis ISO RGD:2232 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:17345707|REF_RGD_ID:5129524 12220747 C3 complement C3 gene DOID:4483 rhinitis ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:20109314|REF_RGD_ID:5129539 12220747 C3 complement C3 gene DOID:5162 arteriolosclerosis ISO RGD:735504 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:serum: PMID:22863782|REF_RGD_ID:7175516 12220747 C3 complement C3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:7561187|REF_RGD_ID:11040775 12220747 C3 complement C3 gene DOID:5426 primary ovarian insufficiency ISO RGD:735504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868|PMID:28492532|PMID:31042289 12220747 C3 complement C3 gene DOID:552 pneumonia ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:10886251|REF_RGD_ID:5129562 12220747 C3 complement C3 gene DOID:557 kidney disease ISO RGD:735504 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532|PMID:29888403 12220747 C3 complement C3 gene DOID:5844 myocardial infarction ISO RGD:2232 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium PMID:16996480|REF_RGD_ID:1600605 12220747 C3 complement C3 gene DOID:589 congenital hemolytic anemia ISO RGD:735504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868 12220747 C3 complement C3 gene DOID:612 primary immunodeficiency disease ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1350678 12220747 C3 complement C3 gene DOID:6195 conjunctivitis ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:tear PMID:3875643|REF_RGD_ID:7421524 12220747 C3 complement C3 gene DOID:630 genetic disease ISO RGD:735504 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16687714|PMID:17634448|PMID:17767156|PMID:18325906|PMID:19168221|PMID:19259132|PMID:1976733|PMID:20664795|PMID:21576320|PMID:22718507|PMID:23112567|PMID:23455636|PMID:25741868|PMID:28492532|PMID:7870343 12220747 C3 complement C3 gene DOID:684 hepatocellular carcinoma ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:23245919|REF_RGD_ID:11040806 12220747 C3 complement C3 gene DOID:7148 rheumatoid arthritis ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:7561187|REF_RGD_ID:11040775 12220747 C3 complement C3 gene DOID:8354 complement component 3 deficiency IAGP D RGD:12801476 20210603 OMIA C3 deficiency PMID:1864020|PMID:3789016|PMID:9510185|PMID:20003027|PMID:19060316|PMID:16817728|PMID:8031472|PMID:8284953|PMID:8340676|PMID:2782718|PMID:3346548|PMID:3105954|PMID:3562462|PMID:4002610|PMID:2982527|PMID:3997206|PMID:6345600|PMID:7142701|PMID:7233211 12220747 C3 complement C3 gene DOID:8354 complement component 3 deficiency ISO RGD:735504 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: C3 deficiency | ClinVar Annotator: match by term: Complement component 3 deficiency | ClinVar Annotator: match by term: Complement component 3 deficiency, autosomal recessive PMID:1350678|PMID:14639503|PMID:15781264|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20595690|PMID:21125405|PMID:22669319|PMID:23307876|PMID:23314101|PMID:23431077|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25951460|PMID:26283675|PMID:26613027|PMID:28492532|PMID:28596415|PMID:28752844|PMID:29566171|PMID:29888403|PMID:30046676|PMID:30131807|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33609329|PMID:4117597 12220747 C3 complement C3 gene DOID:8354 complement component 3 deficiency susceptibility ISO RGD:735504 D RGD:7240710 20230505 OMIM 12220747 C3 complement C3 gene DOID:8466 retinal degeneration ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:21467172|REF_RGD_ID:7364947 12220747 C3 complement C3 gene DOID:8466 retinal degeneration ISO RGD:2232 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:21571681|REF_RGD_ID:7401257 12220747 C3 complement C3 gene DOID:850 lung disease ISO RGD:10256 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:21421909|REF_RGD_ID:5129564 12220747 C3 complement C3 gene DOID:8566 herpes simplex ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:11509581|REF_RGD_ID:7401276 12220747 C3 complement C3 gene DOID:8577 ulcerative colitis ISO RGD:735504 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 12220747 C3 complement C3 gene DOID:874 bacterial pneumonia ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:16014897|REF_RGD_ID:5129508 12220747 C3 complement C3 gene DOID:9000326 Thrombotic Microangiopathies treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:11532096|REF_RGD_ID:5129554 12220747 C3 complement C3 gene DOID:9000363 Hematuria ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:renal arteriole: PMID:10955930|REF_RGD_ID:7183083 12220747 C3 complement C3 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:26518242|REF_RGD_ID:11040780 12220747 C3 complement C3 gene DOID:9000656 Penetrating Wounds treatment ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:22007700|REF_RGD_ID:11040781 12220747 C3 complement C3 gene DOID:9000998 Brain Injuries ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:23808389|REF_RGD_ID:10054313 12220747 C3 complement C3 gene DOID:9001488 Human Influenza ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:21408070|REF_RGD_ID:5129492 12220747 C3 complement C3 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:15972516|REF_RGD_ID:5129509 12220747 C3 complement C3 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:735504 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:20405|REF_RGD_ID:5130163 12220747 C3 complement C3 gene DOID:9002106 Pneumococcal Pneumonia disease_progression ISO RGD:2232 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis, Experimental;protein:decreased expression:respiratory system fluid/secretion PMID:17956621|REF_RGD_ID:5129523 12220747 C3 complement C3 gene DOID:9002153 Chronic Allograft Dysfunction treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:25122638|REF_RGD_ID:11040803 12220747 C3 complement C3 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:19854450|REF_RGD_ID:11040888 12220747 C3 complement C3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:10256 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1; protein:increased expression:kidney: PMID:19200691|REF_RGD_ID:7183082 12220747 C3 complement C3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2232 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:25662584|REF_RGD_ID:11040807 12220747 C3 complement C3 gene DOID:9002211 Hyperalgesia ISO RGD:2232 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy;mRNA, protein:increased expression:spinal cord PMID:23588254|REF_RGD_ID:7401259 12220747 C3 complement C3 gene DOID:9002457 Experimental Arthritis ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:20051658|REF_RGD_ID:7411688 12220747 C3 complement C3 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:7347767|REF_RGD_ID:11041098 12220747 C3 complement C3 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:17114852|REF_RGD_ID:5129540 12220747 C3 complement C3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:22320401|REF_RGD_ID:7175513 12220747 C3 complement C3 gene DOID:9002834 Herpesviridae Infections ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:12196286|REF_RGD_ID:5129514 12220747 C3 complement C3 gene DOID:9003565 Paratuberculosis ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22633222 12220747 C3 complement C3 gene DOID:9003690 Carcinoma, Lewis Lung treatment ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:16947020|REF_RGD_ID:7401280 12220747 C3 complement C3 gene DOID:9004009 Reperfusion Injury ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:intestine PMID:17981193|REF_RGD_ID:5129536 12220747 C3 complement C3 gene DOID:9004484 Sepsis ISO RGD:10256 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:24154627|REF_RGD_ID:11040886 12220747 C3 complement C3 gene DOID:9004484 Sepsis ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:3339873|REF_RGD_ID:7411622 12220747 C3 complement C3 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:22763771|REF_RGD_ID:11040808 12220747 C3 complement C3 gene DOID:9005941 Rhinosinusitis ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19593977|REF_RGD_ID:4889484 12220747 C3 complement C3 gene DOID:9005969 Refractory Anemia with Excess of Blasts disease_progression ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:9741227|REF_RGD_ID:11041158 12220747 C3 complement C3 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:19691975|REF_RGD_ID:7411689 12220747 C3 complement C3 gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:16143328|REF_RGD_ID:7401262 12220747 C3 complement C3 gene DOID:9006646 Metabolic Syndrome ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:16488421|REF_RGD_ID:2314030 12220747 C3 complement C3 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12220747 C3 complement C3 gene DOID:9006928 Viral Bronchiolitis ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:12235218|REF_RGD_ID:5129513 12220747 C3 complement C3 gene DOID:9006928 Viral Bronchiolitis resistance ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:19258923|REF_RGD_ID:4142862 12220747 C3 complement C3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 12220747 C3 complement C3 gene DOID:9007692 Insulin Resistance ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18615583 12220747 C3 complement C3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:myocardium PMID:11560858|REF_RGD_ID:1582136 12220747 C3 complement C3 gene DOID:9008091 Optic Nerve Injuries ISO RGD:2232 D RGD:9068941 20200609 RGD mRNA:increased expression:optic nerve PMID:14577867|REF_RGD_ID:5129542 12220747 C3 complement C3 gene DOID:9008261 Chemically-Induced Disorders ISO RGD:735504 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 12220747 C3 complement C3 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:17962462|REF_RGD_ID:7401263 12220747 C3 complement C3 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:147324|REF_RGD_ID:11040804 12220747 C3 complement C3 gene DOID:9008366 Meningococcal Infections severity ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:3491693|REF_RGD_ID:11041157 12220747 C3 complement C3 gene DOID:9008604 Radiation Pneumonitis ISO RGD:735504 D RGD:9068941 20200609 RGD Protein: increased expression: plasma PMID:20510197|REF_RGD_ID:5129484 12220747 C3 complement C3 gene DOID:9008821 Otitis Media with Effusion disease_progression ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:11037838|REF_RGD_ID:7401253 12220747 C3 complement C3 gene DOID:9065 leishmaniasis ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:15378355|REF_RGD_ID:7401274 12220747 C3 complement C3 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased processing PMID:7510492|REF_RGD_ID:11040772 12220747 C3 complement C3 gene DOID:9182 pemphigus ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:74171 12220747 C3 complement C3 gene DOID:9282 ocular hypertension ISO RGD:2232 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina PMID:16677633|REF_RGD_ID:1599509 12220747 C3 complement C3 gene DOID:9282 ocular hypertension ISO RGD:735504 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina PMID:16677633|REF_RGD_ID:1599509 12220747 C3 complement C3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20504758 12220747 C3 complement C3 gene DOID:9408 acute myocardial infarction ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:26476955|REF_RGD_ID:11552746 12220747 C3 complement C3 gene DOID:9498 pulmonary eosinophilia ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:23549917|REF_RGD_ID:7401272 12220747 C3 complement C3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:3253105|REF_RGD_ID:2314031 12220747 C3 complement C3 gene DOID:9970 obesity treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:23118029|REF_RGD_ID:7411625 12220791 OSBPL2 oxysterol binding protein like 2 gene DOID:0110588 autosomal dominant nonsyndromic deafness 67 ISO RGD:1322700 D RGD:9068941 20220908 MouseDO OMIM:616340 12220813 CLCN3 chloride voltage-gated channel 3 gene DOID:0110731 neuronal ceroid lipofuscinosis 3 ISO RGD:730987 D RGD:9068941 20220825 MouseDO OMIM:204200 12220813 CLCN3 chloride voltage-gated channel 3 gene DOID:10003 sensorineural hearing loss ISO RGD:730986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 12220813 CLCN3 chloride voltage-gated channel 3 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:730987 D RGD:9068941 20200609 RGD PMID:12059962|REF_RGD_ID:734783 12220813 CLCN3 chloride voltage-gated channel 3 gene DOID:3070 high grade glioma ISO RGD:730986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12843258 12220813 CLCN3 chloride voltage-gated channel 3 gene DOID:630 genetic disease ISO RGD:730986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17652080|PMID:26342074 12220813 CLCN3 chloride voltage-gated channel 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:730986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12220813 CLCN3 chloride voltage-gated channel 3 gene DOID:9000918 Disease Progression ISO RGD:730986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12220813 CLCN3 chloride voltage-gated channel 3 gene DOID:9001042 Neurodevelopmental Disorder with Seizures and Brain Abnormalities ISO RGD:730986 D RGD:7240710 20221123 OMIM 12220813 CLCN3 chloride voltage-gated channel 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24033266|PMID:25741868|PMID:34186028 12220813 CLCN3 chloride voltage-gated channel 3 gene DOID:9005415 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES ISO RGD:730986 D RGD:7240710 20211027 OMIM 12220813 CLCN3 chloride voltage-gated channel 3 gene DOID:9005415 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES ISO RGD:730986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and brain abnormalities PMID:24033266|PMID:25741868|PMID:34186028 12220845 NDUFB4 NADH:ubiquinone oxidoreductase subunit B4 gene DOID:630 genetic disease ISO RGD:1316046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12220845 NDUFB4 NADH:ubiquinone oxidoreductase subunit B4 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1316046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:0050771 pheochromocytoma ISO RGD:1345704 D RGD:7240710 20180130 OMIM 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:0050771 pheochromocytoma ISO RGD:1345704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15479192|PMID:15623805|PMID:16080474|PMID:16314641|PMID:16317055|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17973943|PMID:18414213|PMID:18551016|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23083876|PMID:23175444|PMID:23433498|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27634942|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28492532|PMID:28873162|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29792313|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30877234|PMID:30951038|PMID:31194233|PMID:32035780|PMID:32741965|PMID:33748650|PMID:34012134|PMID:34906457|PMID:9536098|PMID:9683583 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:0050773 paraganglioma ISO RGD:1345704 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12811540|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15479192|PMID:15531530|PMID:15623805|PMID:16080474|PMID:16317055|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17667967|PMID:17804857|PMID:17973943|PMID:18551016|PMID:18678321|PMID:18692411|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20111059|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22241717|PMID:22290790|PMID:22382802|PMID:22456618|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23433498|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:26008905|PMID:26096992|PMID:26467025|PMID:27153395|PMID:27279923|PMID:28128698|PMID:28164237|PMID:28492532|PMID:28873162|PMID:29386252|PMID:30273935|PMID:30484866|PMID:32035780|PMID:34012134|PMID:34906457|PMID:9683583 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:0050773 paraganglioma ISO RGD:1345704 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15479192|PMID:15531530|PMID:15623805|PMID:16080474|PMID:16317055|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17973943|PMID:18551016|PMID:18678321|PMID:18692411|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20111059|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22382802|PMID:22456618|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23083876|PMID:23175444|PMID:23433498|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27634942|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28492532|PMID:28873162|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29777207|PMID:29792313|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31194241|PMID:32035780|PMID:32741965|PMID:33748650|PMID:34906457|PMID:9536098|PMID:9683583 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:0060537 mitochondrial complex II deficiency ISO RGD:1345704 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mitochondrial complex II deficiency | ClinVar Annotator: match by term: Succinate CoQ reductase deficiency PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11897817|PMID:12811540|PMID:15479192|PMID:17102085|PMID:19454582|PMID:20301715|PMID:21348866|PMID:21937622|PMID:22241717|PMID:22290790|PMID:23175444|PMID:23433498|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24758185|PMID:25014000|PMID:25326637|PMID:25494863|PMID:25695889|PMID:25741868|PMID:28492532|PMID:30050099|PMID:30375904|PMID:30484866|PMID:30951038|PMID:31194233|PMID:32741965|PMID:33748650|PMID:34012134 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1345704 D RGD:7240710 20180130 OMIM 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1345704 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: Paraganglioma and gastric stromal sarcoma | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15531530|PMID:15623805|PMID:15905695|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19584903|PMID:19802898|PMID:19825962|PMID:19936639|PMID:20098451|PMID:20111059|PMID:20208144|PMID:20301715|PMID:20418362|PMID:20842377|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22382802|PMID:22456618|PMID:22517554|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:27785149|PMID:27986441|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28492532|PMID:28748451|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29510530|PMID:29545045|PMID:29625052|PMID:29777207|PMID:29792313|PMID:29875428|PMID:29925701|PMID:30050099|PMID:30093976|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30548481|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31212687|PMID:31492822|PMID:31666924|PMID:32035780|PMID:32741965|PMID:32948182|PMID:33219105|PMID:33362715|PMID:33397040|PMID:33745191|PMID:33748650|PMID:34012134|PMID:34439168|PMID:34906457|PMID:9536098|PMID:9683583 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:0080600 COVID-19 ISO RGD:1345704 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1345704 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:1345704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:0111479 combined oxidative phosphorylation deficiency 8 ISO RGD:1345704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fatal infantile mitochondrial cardiomyopathy PMID:26008905 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:1059 intellectual disability ISO RGD:1345704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:10907 microcephaly ISO RGD:1345704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:12704 ataxia telangiectasia ISO RGD:1345704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:1909 melanoma ISO RGD:1345704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25261935 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:630 genetic disease ISO RGD:1345704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21318381|PMID:22041456|PMID:22138625 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:9002162 Carotid Body Tumor ISO RGD:1345704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carotid body paraganglioma PMID:11391796|PMID:15066320|PMID:17576205|PMID:19351833|PMID:19454582|PMID:21945342|PMID:22241717|PMID:28492532 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:9002199 Paragangliomas 1 ISO RGD:1345704 D RGD:7240710 20190130 OMIM 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:9002199 Paragangliomas 1 ISO RGD:1345704 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Paragangliomas 1 PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12696072|PMID:12782822|PMID:12811540|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15479192|PMID:15531530|PMID:15623805|PMID:15905695|PMID:16080474|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:19550080|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20098451|PMID:20208144|PMID:20301715|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21822798|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23433498|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25694510|PMID:25695889|PMID:25741868|PMID:25791839|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28255624|PMID:28492532|PMID:28873162|PMID:29386252|PMID:29792313|PMID:29925701|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30951038|PMID:31194233|PMID:31212687|PMID:32035780|PMID:32741965|PMID:33362715|PMID:33397040|PMID:33748650|PMID:9683583 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:9002449 Glomus Jugulare Tumor ISO RGD:1345704 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Glomus tumors familial 1 PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12696072|PMID:12782822|PMID:12811540|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15479192|PMID:15623805|PMID:16080474|PMID:16317055|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:18678321|PMID:18692411|PMID:19258401|PMID:19351833|PMID:19454582|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20301715|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23433498|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25694510|PMID:25695889|PMID:25741868|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27153395|PMID:27279923|PMID:28128698|PMID:28164237|PMID:28492532|PMID:28873162|PMID:29386252|PMID:29792313|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30951038|PMID:31194233|PMID:32035780|PMID:32741965|PMID:33748650|PMID:9683583 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:9003007 Mitochondrial Complex II Deficiency Nuclear Type 3 ISO RGD:1345704 D RGD:7240710 20210203 OMIM 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:9003007 Mitochondrial Complex II Deficiency Nuclear Type 3 ISO RGD:1345704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 PMID:10657297|PMID:11156372|PMID:11526495|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12386824|PMID:15032977|PMID:18678321|PMID:21565294|PMID:21979946|PMID:22584711|PMID:22703879|PMID:23175444|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24367056|PMID:24728327|PMID:24886695|PMID:25149476|PMID:25741868|PMID:26008905|PMID:26467025|PMID:27153395|PMID:28492532|PMID:34012134 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:9003055 Mitochondrial Complex II Deficiency Nuclear Type 1 ISO RGD:1345704 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11897817|PMID:12811540|PMID:15479192|PMID:17102085|PMID:19454582|PMID:20301715|PMID:21348866|PMID:21937622|PMID:22241717|PMID:22290790|PMID:23175444|PMID:23433498|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24758185|PMID:25014000|PMID:25326637|PMID:25494863|PMID:25695889|PMID:25741868|PMID:28492532|PMID:30050099|PMID:30375904|PMID:30484866|PMID:30951038|PMID:31194233|PMID:32741965|PMID:33748650|PMID:34012134 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:9003626 Paragangliomas 3 ISO RGD:1345704 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:10657297|PMID:11391798|PMID:12000816|PMID:12114404|PMID:19584903|PMID:20301715|PMID:21348866|PMID:25300370|PMID:25741868|PMID:26008905|PMID:28492532|PMID:9683583 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:9004109 Intestinal Carcinoid Tumors ISO RGD:1345704 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoid tumors, intestinal PMID:12007193|PMID:12111639|PMID:12386824|PMID:12696072|PMID:14557476|PMID:15623805|PMID:18678321|PMID:21565294|PMID:21979946|PMID:22703879|PMID:23175444|PMID:24728327|PMID:25149476|PMID:25694510|PMID:25695889|PMID:25741868|PMID:26467025|PMID:27279923|PMID:28128698|PMID:28164237|PMID:28492532|PMID:29386252|PMID:29792313 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:1345704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15479192|PMID:15623805|PMID:16080474|PMID:16317055|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17973943|PMID:18551016|PMID:18678321|PMID:18692411|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23083876|PMID:23175444|PMID:23433498|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27634942|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28492532|PMID:28873162|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29792313|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30877234|PMID:30951038|PMID:31194233|PMID:32035780|PMID:32741965|PMID:33748650|PMID:34012134|PMID:34906457|PMID:9536098|PMID:9683583 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:1345704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11897817|PMID:12000816|PMID:12114404|PMID:12218630|PMID:12509798|PMID:12782822|PMID:12807974|PMID:12811540|PMID:15066320|PMID:15328326|PMID:15479192|PMID:15531530|PMID:16080474|PMID:16317055|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17973943|PMID:18551016|PMID:18692411|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20111059|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21792967|PMID:21937622|PMID:21945342|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22382802|PMID:22456618|PMID:22566194|PMID:22829200|PMID:23083876|PMID:23175444|PMID:23433498|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24758185|PMID:25014000|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27279923|PMID:27634942|PMID:28179334|PMID:28492532|PMID:28873162|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29777207|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31194241|PMID:32035780|PMID:32741965|PMID:33748650|PMID:34906457|PMID:9536098|PMID:9683583 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:9006360 Paragangliomas with Sensorineural Hearing Loss ISO RGD:1345704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paragangliomas 1 with sensorineural hearing loss | ClinVar Annotator: match by term: Paragangliomas with sensorineural hearing loss PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15479192|PMID:15623805|PMID:16080474|PMID:16317055|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17973943|PMID:18551016|PMID:18678321|PMID:18692411|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23083876|PMID:23175444|PMID:23433498|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27634942|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28492532|PMID:28873162|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29792313|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30877234|PMID:30951038|PMID:31194233|PMID:32035780|PMID:32741965|PMID:33748650|PMID:34012134|PMID:34906457|PMID:9536098|PMID:9683583 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345704 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12386824|PMID:12612654|PMID:12696072|PMID:12782822|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20098451|PMID:20208144|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28492532|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29925701|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30484866|PMID:30877234|PMID:31666924|PMID:32035780|PMID:9683583 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345704 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12612654|PMID:12696072|PMID:12782822|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28492532|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29925701|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30484866|PMID:30877234|PMID:31666924|PMID:32035780|PMID:34906457|PMID:9683583 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345704 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12612654|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15905695|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:19936639|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21822798|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28255624|PMID:28492532|PMID:28748451|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29625052|PMID:29777207|PMID:29925701|PMID:30050099|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30548481|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31194241|PMID:31212687|PMID:31666924|PMID:32035780|PMID:32741965|PMID:32948182|PMID:33362715|PMID:33397040|PMID:33745191|PMID:33748650|PMID:34012134|PMID:34439168|PMID:34906457|PMID:9536098|PMID:9683583 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345704 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12612654|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15905695|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:19936639|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21822798|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28255624|PMID:28492532|PMID:28748451|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29625052|PMID:29777207|PMID:29792313|PMID:29925701|PMID:30050099|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30548481|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31194241|PMID:31212687|PMID:31666924|PMID:32035780|PMID:32741965|PMID:32948182|PMID:33362715|PMID:33397040|PMID:33745191|PMID:33748650|PMID:34012134|PMID:34439168|PMID:34906457|PMID:9536098|PMID:9683583 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345704 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15905695|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:19936639|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21822798|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28255624|PMID:28492532|PMID:28748451|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29510530|PMID:29545045|PMID:29625052|PMID:29777207|PMID:29792313|PMID:29875428|PMID:29925701|PMID:30050099|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30548481|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31194241|PMID:31212687|PMID:31492822|PMID:31666924|PMID:32035780|PMID:32741965|PMID:32948182|PMID:33219105|PMID:33362715|PMID:33397040|PMID:33745191|PMID:33748650|PMID:34012134|PMID:34439168|PMID:34906457|PMID:9536098|PMID:9683583 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:9008037 Paragangliomas 4 ISO RGD:1345704 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Paragangliomas 4 PMID:10657297|PMID:11391798|PMID:12000816|PMID:12114404|PMID:19584903|PMID:20301715|PMID:21348866|PMID:25300370|PMID:25741868|PMID:26008905|PMID:28492532|PMID:9683583 12220852 SDHD succinate dehydrogenase complex subunit D gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1345704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 12220864 RNF31 ring finger protein 31 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1348836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12220864 RNF31 ring finger protein 31 gene DOID:630 genetic disease ISO RGD:1348836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12220864 RNF31 ring finger protein 31 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1348836 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12220864 RNF31 ring finger protein 31 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12220864 RNF31 ring finger protein 31 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1348836 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12220864 RNF31 ring finger protein 31 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:1348836 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532 12220864 RNF31 ring finger protein 31 gene DOID:9007661 Dwarfism ISO RGD:1348836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:28492532 12220896 TTC7B tetratricopeptide repeat domain 7B gene DOID:0080054 achondrogenesis type IA ISO RGD:1314238 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12220896 TTC7B tetratricopeptide repeat domain 7B gene DOID:630 genetic disease ISO RGD:1314238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12220925 TMEM151A transmembrane protein 151A gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1606118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 12220925 TMEM151A transmembrane protein 151A gene DOID:1059 intellectual disability ISO RGD:1606118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12220925 TMEM151A transmembrane protein 151A gene DOID:11612 polycystic ovary syndrome ISO RGD:1606118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12220925 TMEM151A transmembrane protein 151A gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12220925 TMEM151A transmembrane protein 151A gene DOID:2746 glycogen storage disease V ISO RGD:1606118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12220925 TMEM151A transmembrane protein 151A gene DOID:630 genetic disease ISO RGD:1606118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12220925 TMEM151A transmembrane protein 151A gene DOID:9002567 Episodic Kinesigenic Dyskinesia 3 ISO RGD:1606118 D RGD:7240710 20230505 OMIM 12220925 TMEM151A transmembrane protein 151A gene DOID:9002567 Episodic Kinesigenic Dyskinesia 3 ISO RGD:1606118 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia 3 PMID:34518509|PMID:34820915|PMID:34970790|PMID:35587630|PMID:35727387 12220925 TMEM151A transmembrane protein 151A gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1606118 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12220925 TMEM151A transmembrane protein 151A gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1606118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12220931 ANKRD27 ankyrin repeat domain 27 gene DOID:13922 eosinophilic esophagitis ISO RGD:1316102 D RGD:9068941 20200609 RGD DNA:SNPs:intron: (rs3815700, rs10410895) (human) PMID:25407941|REF_RGD_ID:11100048 12220931 ANKRD27 ankyrin repeat domain 27 gene DOID:630 genetic disease ISO RGD:1316102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12220965 SCP2D1 SCP2 sterol binding domain containing 1 gene DOID:630 genetic disease ISO RGD:1318122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12220971 MYLK4 myosin light chain kinase family member 4 gene DOID:2843 long QT syndrome ISO RGD:1604705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12220971 MYLK4 myosin light chain kinase family member 4 gene DOID:630 genetic disease ISO RGD:1604705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12220996 STXBP4 syntaxin binding protein 4 gene DOID:630 genetic disease ISO RGD:1317366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12220996 STXBP4 syntaxin binding protein 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1317366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12221051 PPP1R26 protein phosphatase 1 regulatory subunit 26 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1352865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12221051 PPP1R26 protein phosphatase 1 regulatory subunit 26 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1352865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12221051 PPP1R26 protein phosphatase 1 regulatory subunit 26 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1352865 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12221051 PPP1R26 protein phosphatase 1 regulatory subunit 26 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1352865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12221051 PPP1R26 protein phosphatase 1 regulatory subunit 26 gene DOID:0081097 Rafiq syndrome ISO RGD:1352865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12221051 PPP1R26 protein phosphatase 1 regulatory subunit 26 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1352865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12221051 PPP1R26 protein phosphatase 1 regulatory subunit 26 gene DOID:3652 Leigh disease ISO RGD:1352865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12221051 PPP1R26 protein phosphatase 1 regulatory subunit 26 gene DOID:630 genetic disease ISO RGD:1352865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221051 PPP1R26 protein phosphatase 1 regulatory subunit 26 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1352865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:28492532|PMID:29907982 12221059 NCR3 natural cytotoxicity triggering receptor 3 gene DOID:0050553 JMP syndrome ISO RGD:1353948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12221059 NCR3 natural cytotoxicity triggering receptor 3 gene DOID:0080600 COVID-19 ISO RGD:1353948 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12221059 NCR3 natural cytotoxicity triggering receptor 3 gene DOID:11372 megacolon ISO RGD:1353948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12221059 NCR3 natural cytotoxicity triggering receptor 3 gene DOID:12365 malaria ISO RGD:1353948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malaria, severe, susceptibility to PMID:17208487 12221059 NCR3 natural cytotoxicity triggering receptor 3 gene DOID:12365 malaria susceptibility ISO RGD:1353948 D RGD:7240710 20190502 OMIM 12221059 NCR3 natural cytotoxicity triggering receptor 3 gene DOID:1883 hepatitis C disease_progression ISO RGD:1353948 D RGD:9068941 20201112 RGD protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:17553896|REF_RGD_ID:40400745 12221059 NCR3 natural cytotoxicity triggering receptor 3 gene DOID:630 genetic disease ISO RGD:1353948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221059 NCR3 natural cytotoxicity triggering receptor 3 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1353948 D RGD:9068941 20201117 RGD protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) PMID:27382604|REF_RGD_ID:40818276 12221059 NCR3 natural cytotoxicity triggering receptor 3 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1353948 D RGD:9068941 20201112 RGD protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:20550548|REF_RGD_ID:40818079 12221059 NCR3 natural cytotoxicity triggering receptor 3 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1353948 D RGD:9068941 20201118 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:23813131|REF_RGD_ID:40818297 12221059 NCR3 natural cytotoxicity triggering receptor 3 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1353948 D RGD:9068941 20201106 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:21168454|REF_RGD_ID:40400738 12221059 NCR3 natural cytotoxicity triggering receptor 3 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1353948 D RGD:9068941 20201118 RGD PMID:16322112|PMID:21695691|REF_RGD_ID:40818295|REF_RGD_ID:40818296 12221077 TCAP titin-cap gene DOID:0050451 Brugada syndrome ISO RGD:1348921 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:23861362|PMID:24033266|PMID:24037902|PMID:25741868|PMID:26332198|PMID:26467025|PMID:28492532|PMID:30871747|PMID:31303467 12221077 TCAP titin-cap gene DOID:0050700 cardiomyopathy ISO RGD:1348921 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:16911908|PMID:18585512|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:22194935|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25741868|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27532257|PMID:28492532|PMID:29884292|PMID:30871747|PMID:31303467 12221077 TCAP titin-cap gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1348921 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10655062|PMID:15582318|PMID:16352453|PMID:16911908|PMID:17097056|PMID:18408010|PMID:18414213|PMID:18585512|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21530252|PMID:21959314|PMID:22194935|PMID:23299917|PMID:23479141|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25298746|PMID:25351510|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27055092|PMID:27532257|PMID:28492532|PMID:28518168|PMID:28771489|PMID:29884292|PMID:30531895|PMID:30847666|PMID:30871747|PMID:31114860|PMID:31303467|PMID:31980526|PMID:31983221|PMID:32233023|PMID:32451364|PMID:32880476|PMID:35026164 12221077 TCAP titin-cap gene DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G ISO RGD:1348921 D RGD:7240710 20180130 OMIM 12221077 TCAP titin-cap gene DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G ISO RGD:1348921 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2G | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2G PMID:10655062|PMID:15582318|PMID:16352453|PMID:16911908|PMID:17097056|PMID:18414213|PMID:18585512|PMID:18948002|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21530252|PMID:22194935|PMID:23299917|PMID:23479141|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25298746|PMID:25326637|PMID:25351510|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:27055092|PMID:27532257|PMID:27618135|PMID:28492532|PMID:28518168|PMID:28771489|PMID:29884292|PMID:29935994|PMID:30531895|PMID:30847666|PMID:30871747|PMID:31114860|PMID:31303467|PMID:31980526|PMID:31983221|PMID:32140910|PMID:32233023|PMID:32451364|PMID:32528171|PMID:32880476|PMID:35026164 12221077 TCAP titin-cap gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1348921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10655062|PMID:16911908|PMID:18414213|PMID:18585512|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21530252|PMID:22194935|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27532257|PMID:28166811|PMID:28492532|PMID:30871747|PMID:31303467 12221077 TCAP titin-cap gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1348921 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10655062|PMID:15582318|PMID:16911908|PMID:18408010|PMID:18414213|PMID:18585512|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21530252|PMID:21959314|PMID:22194935|PMID:23299917|PMID:23479141|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25298746|PMID:25351510|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27532257|PMID:28492532|PMID:28518168|PMID:28771489|PMID:29884292|PMID:30531895|PMID:30847666|PMID:30871747|PMID:31303467|PMID:31983221|PMID:32233023|PMID:32451364 12221077 TCAP titin-cap gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1348921 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10655062|PMID:15582318|PMID:16352453|PMID:16911908|PMID:17097056|PMID:18408010|PMID:18414213|PMID:18585512|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21530252|PMID:21959314|PMID:22194935|PMID:23299917|PMID:23479141|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25298746|PMID:25351510|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27055092|PMID:27532257|PMID:28492532|PMID:28518168|PMID:28771489|PMID:29884292|PMID:30531895|PMID:30847666|PMID:30871747|PMID:31114860|PMID:31303467|PMID:31980526|PMID:31983221|PMID:32233023|PMID:32451364|PMID:32880476|PMID:35026164 12221077 TCAP titin-cap gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1348921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:12507422|PMID:15582318|PMID:28492532 12221077 TCAP titin-cap gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1348921 D RGD:7240710 20180130 OMIM 12221077 TCAP titin-cap gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1348921 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:10655062|PMID:12507422|PMID:15582318|PMID:16352453|PMID:16911908|PMID:17097056|PMID:17576681|PMID:18408010|PMID:18414213|PMID:18585512|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21520333|PMID:21530252|PMID:21959314|PMID:22194935|PMID:23299917|PMID:23479141|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25298746|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27066551|PMID:27532257|PMID:27618135|PMID:28492532|PMID:29797799|PMID:30871747|PMID:31303467|PMID:31983221|PMID:32005491|PMID:32451364|PMID:32761539|PMID:32880476|PMID:9536098 12221077 TCAP titin-cap gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1348921 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:10655062|PMID:12507422|PMID:15582318|PMID:16352453|PMID:16911908|PMID:17097056|PMID:17576681|PMID:18408010|PMID:18414213|PMID:18585512|PMID:18948002|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21530252|PMID:21959314|PMID:22194935|PMID:23299917|PMID:23479141|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25298746|PMID:25351510|PMID:25724973|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27055092|PMID:27066551|PMID:27532257|PMID:27618135|PMID:28492532|PMID:28518168|PMID:28771489|PMID:29797799|PMID:29884292|PMID:29935994|PMID:30531895|PMID:30564623|PMID:30847666|PMID:30871747|PMID:31114860|PMID:31303467|PMID:31308319|PMID:31980526|PMID:31983221|PMID:32005491|PMID:32140910|PMID:32233023|PMID:32451364|PMID:32528171|PMID:32565061|PMID:32588437|PMID:32761539|PMID:32880476|PMID:35026164|PMID:9536098 12221077 TCAP titin-cap gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1348921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase PMID:25741868 12221077 TCAP titin-cap gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1348921 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16352453|PMID:17097056|PMID:19035361|PMID:20474083|PMID:22194935|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24037902|PMID:25741868|PMID:26084686|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27055092|PMID:27532257|PMID:28492532|PMID:30847666|PMID:31114860|PMID:31980526|PMID:32451364|PMID:32880476|PMID:35026164 12221077 TCAP titin-cap gene DOID:12930 dilated cardiomyopathy ISO RGD:1348921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10655062|PMID:23479141|PMID:25298746|PMID:25741868|PMID:27618135|PMID:28492532 12221077 TCAP titin-cap gene DOID:12930 dilated cardiomyopathy ISO RGD:1348921 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10655062|PMID:24037902|PMID:25298746|PMID:25741868|PMID:27618135|PMID:28492532 12221077 TCAP titin-cap gene DOID:12930 dilated cardiomyopathy ISO RGD:1348921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10655062|PMID:23479141|PMID:24037902|PMID:25298746|PMID:25741868|PMID:27618135|PMID:28492532 12221077 TCAP titin-cap gene DOID:2843 long QT syndrome ISO RGD:1348921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26636822|PMID:28492532 12221077 TCAP titin-cap gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1348921 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532|PMID:28771489|PMID:32233023 12221077 TCAP titin-cap gene DOID:630 genetic disease ISO RGD:1348921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12221077 TCAP titin-cap gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1348921 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:31983221 12221077 TCAP titin-cap gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1348921 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:23861362|PMID:24033266|PMID:24037902|PMID:25741868|PMID:26332198|PMID:26467025|PMID:28492532|PMID:30871747|PMID:31303467 12221077 TCAP titin-cap gene DOID:9005141 Ventricular Tachycardia ISO RGD:1348921 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532|PMID:31983221 12221083 RNF152 ring finger protein 152 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1313171 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12221083 RNF152 ring finger protein 152 gene DOID:630 genetic disease ISO RGD:1313171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221089 CFAP161 cilia and flagella associated protein 161 gene DOID:2717 Bloom syndrome ISO RGD:1321239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12221089 CFAP161 cilia and flagella associated protein 161 gene DOID:630 genetic disease ISO RGD:1321239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221089 CFAP161 cilia and flagella associated protein 161 gene DOID:9256 colorectal cancer ISO RGD:1321239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12221101 ARHGEF39 Rho guanine nucleotide exchange factor 39 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1321248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12221101 ARHGEF39 Rho guanine nucleotide exchange factor 39 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1321248 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12221101 ARHGEF39 Rho guanine nucleotide exchange factor 39 gene DOID:0080942 anauxetic dysplasia ISO RGD:1321248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12221101 ARHGEF39 Rho guanine nucleotide exchange factor 39 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1321248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12221101 ARHGEF39 Rho guanine nucleotide exchange factor 39 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1321248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12221101 ARHGEF39 Rho guanine nucleotide exchange factor 39 gene DOID:630 genetic disease ISO RGD:1321248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221101 ARHGEF39 Rho guanine nucleotide exchange factor 39 gene DOID:684 hepatocellular carcinoma ISO RGD:1321248 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12221101 ARHGEF39 Rho guanine nucleotide exchange factor 39 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1321248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12221101 ARHGEF39 Rho guanine nucleotide exchange factor 39 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12221101 ARHGEF39 Rho guanine nucleotide exchange factor 39 gene DOID:9870 galactosemia ISO RGD:1321248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12221124 NCMAP non-compact myelin associated protein gene DOID:630 genetic disease ISO RGD:1606072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221133 CBLC Cbl proto-oncogene C gene DOID:630 genetic disease ISO RGD:1316966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221157 DEFB129 defensin beta 129 gene DOID:630 genetic disease ISO RGD:1347595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221157 DEFB129 defensin beta 129 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12221295 QRSL1 glutaminyl-tRNA amidotransferase subunit QRSL1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1343877 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 12221295 QRSL1 glutaminyl-tRNA amidotransferase subunit QRSL1 gene DOID:0112117 combined oxidative phosphorylation deficiency 40 ISO RGD:1343877 D RGD:7240710 20200429 OMIM 12221295 QRSL1 glutaminyl-tRNA amidotransferase subunit QRSL1 gene DOID:0112117 combined oxidative phosphorylation deficiency 40 ISO RGD:1343877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 40 PMID:17576681|PMID:25741868|PMID:26741492|PMID:28492532|PMID:29440775|PMID:30283131|PMID:9536098 12221295 QRSL1 glutaminyl-tRNA amidotransferase subunit QRSL1 gene DOID:630 genetic disease ISO RGD:1343877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12221295 QRSL1 glutaminyl-tRNA amidotransferase subunit QRSL1 gene DOID:9000777 Mitochondrial Cardiomyopathy ISO RGD:1343877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial PMID:26741492|PMID:30283131 12221295 QRSL1 glutaminyl-tRNA amidotransferase subunit QRSL1 gene DOID:9008086 Developmental Disabilities ISO RGD:1343877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12221310 CADPS2 calcium dependent secretion activator 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1557036 D RGD:9068941 20220825 MouseDO 12221310 CADPS2 calcium dependent secretion activator 2 gene DOID:12849 autistic disorder ISO RGD:1342691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17380209 12221310 CADPS2 calcium dependent secretion activator 2 gene DOID:13580 cholestasis ISO RGD:1342691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12221310 CADPS2 calcium dependent secretion activator 2 gene DOID:303 substance-related disorder ISO RGD:1342691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12221310 CADPS2 calcium dependent secretion activator 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1342691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12221310 CADPS2 calcium dependent secretion activator 2 gene DOID:630 genetic disease ISO RGD:1342691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221310 CADPS2 calcium dependent secretion activator 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12221347 FRA10AC1 FRA10A associated CGG repeat 1 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:1319845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:24206907|PMID:28492532 12221347 FRA10AC1 FRA10A associated CGG repeat 1 gene DOID:630 genetic disease ISO RGD:1319845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221347 FRA10AC1 FRA10A associated CGG repeat 1 gene DOID:9000628 Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities ISO RGD:1319845 D RGD:7240710 20221123 OMIM 12221347 FRA10AC1 FRA10A associated CGG repeat 1 gene DOID:9000628 Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities ISO RGD:1319845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities PMID:25741868|PMID:34694367|PMID:35821753|PMID:35871492 12221382 ZBTB39 zinc finger and BTB domain containing 39 gene DOID:630 genetic disease ISO RGD:1605102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221388 MOB1B MOB kinase activator 1B gene DOID:630 genetic disease ISO RGD:1312955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221388 MOB1B MOB kinase activator 1B gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1312955 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12221398 PKP3 plakophilin 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1319304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12221398 PKP3 plakophilin 3 gene DOID:0111969 immunodeficiency 39 ISO RGD:1319304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12221398 PKP3 plakophilin 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1319304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12221398 PKP3 plakophilin 3 gene DOID:1227 neutropenia ISO RGD:1319304 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 12221398 PKP3 plakophilin 3 gene DOID:630 genetic disease ISO RGD:1319304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221398 PKP3 plakophilin 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12221414 ZNF438 zinc finger protein 438 gene DOID:1909 melanoma ISO RGD:1603538 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12221414 ZNF438 zinc finger protein 438 gene DOID:630 genetic disease ISO RGD:1603538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221435 CEP164 centrosomal protein 164 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1605084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12221435 CEP164 centrosomal protein 164 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1605084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12221435 CEP164 centrosomal protein 164 gene DOID:0080690 RASopathy ISO RGD:1605084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12221435 CEP164 centrosomal protein 164 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1605084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12221435 CEP164 centrosomal protein 164 gene DOID:0111123 nephronophthisis 15 ISO RGD:1605084 D RGD:7240710 20180130 OMIM 12221435 CEP164 centrosomal protein 164 gene DOID:0111123 nephronophthisis 15 ISO RGD:1605084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:16199547|PMID:17576681|PMID:17954613|PMID:22863007|PMID:24033266|PMID:24882706|PMID:25340510|PMID:25741868|PMID:27708425|PMID:28125082|PMID:28492532|PMID:29974258|PMID:31785789|PMID:32055034|PMID:32367404|PMID:34013113|PMID:34132027|PMID:34499853|PMID:9536098 12221435 CEP164 centrosomal protein 164 gene DOID:0111971 immunodeficiency 18 ISO RGD:1605084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12221435 CEP164 centrosomal protein 164 gene DOID:0111972 immunodeficiency 19 ISO RGD:1605084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12221435 CEP164 centrosomal protein 164 gene DOID:0111973 immunodeficiency 17 ISO RGD:1605084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12221435 CEP164 centrosomal protein 164 gene DOID:1059 intellectual disability ISO RGD:1605084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12221435 CEP164 centrosomal protein 164 gene DOID:12712 nephronophthisis ISO RGD:1605084 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 12221435 CEP164 centrosomal protein 164 gene DOID:630 genetic disease ISO RGD:1605084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12221435 CEP164 centrosomal protein 164 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1605084 D RGD:9068941 20220317 RGD associated with Chronic Hepatitis C;DNA:SNP: :rs573455 (human) PMID:22004425|REF_RGD_ID:151665169 12221435 CEP164 centrosomal protein 164 gene DOID:8501 fundus dystrophy ISO RGD:1605084 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 12221435 CEP164 centrosomal protein 164 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12221435 CEP164 centrosomal protein 164 gene DOID:9007661 Dwarfism ISO RGD:1605084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12221484 PTPN2 protein tyrosine phosphatase non-receptor type 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:733575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12221484 PTPN2 protein tyrosine phosphatase non-receptor type 2 gene DOID:1059 intellectual disability ISO RGD:733575 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12221484 PTPN2 protein tyrosine phosphatase non-receptor type 2 gene DOID:10591 pre-eclampsia disease_progression ISO RGD:733575 D RGD:9068941 20220930 RGD mRNA:decreased expression:placenta (human) PMID:27746364|REF_RGD_ID:155260325 12221484 PTPN2 protein tyrosine phosphatase non-receptor type 2 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:733575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20473312 12221484 PTPN2 protein tyrosine phosphatase non-receptor type 2 gene DOID:630 genetic disease ISO RGD:733575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221484 PTPN2 protein tyrosine phosphatase non-receptor type 2 gene DOID:7148 rheumatoid arthritis ISO RGD:733575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 12221484 PTPN2 protein tyrosine phosphatase non-receptor type 2 gene DOID:8577 ulcerative colitis ISO RGD:733575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438405 12221484 PTPN2 protein tyrosine phosphatase non-receptor type 2 gene DOID:8778 Crohn's disease ISO RGD:733575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17554261 12221513 VSTM2A V-set and transmembrane domain containing 2A gene DOID:12849 autistic disorder ISO RGD:1604199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12221513 VSTM2A V-set and transmembrane domain containing 2A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12221513 VSTM2A V-set and transmembrane domain containing 2A gene DOID:630 genetic disease ISO RGD:1604199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221537 BAALC BAALC binder of MAP3K1 and KLF4 gene DOID:0111590 Cohen syndrome ISO RGD:736795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12221537 BAALC BAALC binder of MAP3K1 and KLF4 gene DOID:630 genetic disease ISO RGD:736795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221537 BAALC BAALC binder of MAP3K1 and KLF4 gene DOID:9119 acute myeloid leukemia ISO RGD:736795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19822134 12221560 ADAM20 ADAM metallopeptidase domain 20 gene DOID:630 genetic disease ISO RGD:1345378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221575 TMEM196 transmembrane protein 196 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12221575 TMEM196 transmembrane protein 196 gene DOID:630 genetic disease ISO RGD:1606932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221602 ME1 malic enzyme 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:736133 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 12221602 ME1 malic enzyme 1 gene DOID:0080600 COVID-19 ISO RGD:736133 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12221602 ME1 malic enzyme 1 gene DOID:0111953 immunodeficiency 23 ISO RGD:736133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:24931394 12221602 ME1 malic enzyme 1 gene DOID:630 genetic disease ISO RGD:736133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221602 ME1 malic enzyme 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 12221602 ME1 malic enzyme 1 gene DOID:9004657 Weight Gain ISO RGD:736133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12221602 ME1 malic enzyme 1 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3074 D RGD:9068941 20220224 RGD mRNA:increased expression:right ventricle PMID:23794090|REF_RGD_ID:151361111 12221602 ME1 malic enzyme 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12221602 ME1 malic enzyme 1 gene DOID:9970 obesity ISO RGD:736133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270708 12221620 GLB1 galactosidase beta 1 gene DOID:0050952 spastic ataxia ISO RGD:1347574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:10841810|PMID:15714521|PMID:18524657|PMID:21497194|PMID:25741868|PMID:28492532|PMID:8922281 12221620 GLB1 galactosidase beta 1 gene DOID:0080006 bone development disease ISO RGD:1347574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7586649 12221620 GLB1 galactosidase beta 1 gene DOID:0080489 GM1 gangliosidosis type 3 ISO RGD:1347574 D RGD:7240710 20190227 OMIM 12221620 GLB1 galactosidase beta 1 gene DOID:0080489 GM1 gangliosidosis type 3 ISO RGD:1347574 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GM1 gangliosidosis type 3 | ClinVar Annotator: match by term: Type 3 (adult) GM1 gangliosidosis PMID:10338095|PMID:10737981|PMID:11504597|PMID:11511921|PMID:11727201|PMID:12393180|PMID:12644936|PMID:12673792|PMID:1353343|PMID:15714521|PMID:15906092|PMID:15986423|PMID:16617000|PMID:16626397|PMID:16941474|PMID:17309651|PMID:17576681|PMID:17664528|PMID:18524657|PMID:1907800|PMID:1909089|PMID:19472408|PMID:19644515|PMID:20175788|PMID:20301601|PMID:21497194|PMID:21520340|PMID:21637542|PMID:22128166|PMID:23337983|PMID:23430499|PMID:24156116|PMID:25326637|PMID:25443580|PMID:25557439|PMID:25600812|PMID:25741868|PMID:25936995|PMID:26108645|PMID:26646981|PMID:28492532|PMID:28554332|PMID:28716012|PMID:29160035|PMID:29439846|PMID:30267299|PMID:31761138|PMID:31776384|PMID:6791574|PMID:8068159|PMID:8112731|PMID:8198123|PMID:8199591|PMID:8213816|PMID:8652017|PMID:8922281|PMID:9203065|PMID:9536098|PMID:9781688 12221620 GLB1 galactosidase beta 1 gene DOID:0080501 GM1 gangliosidosis type 2 ISO RGD:1347574 D RGD:7240710 20190306 OMIM 12221620 GLB1 galactosidase beta 1 gene DOID:0080501 GM1 gangliosidosis type 2 ISO RGD:1347574 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GM1 gangliosidosis type 2 PMID:10338095|PMID:10737981|PMID:10744681|PMID:10839995|PMID:10841810|PMID:11504597|PMID:11511921|PMID:11727201|PMID:12393180|PMID:12644936|PMID:12673792|PMID:1353343|PMID:1487238|PMID:15365997|PMID:15714521|PMID:15906092|PMID:15943552|PMID:15986423|PMID:1606711|PMID:16199547|PMID:16314480|PMID:16538002|PMID:16617000|PMID:16626397|PMID:16674934|PMID:16941474|PMID:17221873|PMID:17309651|PMID:17661814|PMID:17664528|PMID:18524657|PMID:18571950|PMID:1907800|PMID:1909089|PMID:1928092|PMID:19472408|PMID:19644515|PMID:20175788|PMID:20301601|PMID:20920281|PMID:21214877|PMID:2149194|PMID:21497194|PMID:21520340|PMID:21637542|PMID:22128166|PMID:22675082|PMID:23046582|PMID:23151865|PMID:23337983|PMID:23430499|PMID:23430803|PMID:23757202|PMID:23831247|PMID:24033266|PMID:24156116|PMID:24767253|PMID:24777551|PMID:25326635|PMID:25326637|PMID:25443580|PMID:25525159|PMID:25557439|PMID:25600812|PMID:25741868|PMID:25936995|PMID:26108645|PMID:26169295|PMID:26646981|PMID:26990548|PMID:27619815|PMID:27679996|PMID:27750150|PMID:28332257|PMID:28476546|PMID:28492532|PMID:28554332|PMID:28716012|PMID:28976722|PMID:29352662|PMID:29439846|PMID:29451896|PMID:30138938|PMID:30267299|PMID:30442161|PMID:30548430|PMID:30675867|PMID:30809705|PMID:31367523|PMID:31761138|PMID:31776384|PMID:32779865|PMID:33083013|PMID:33240792|PMID:33558080|PMID:33737400|PMID:34426522|PMID:6791574|PMID:7586649|PMID:8068159|PMID:8112731|PMID:8198123|PMID:8213816|PMID:8500799|PMID:8652017|PMID:8922281|PMID:9203065|PMID:9781688 12221620 GLB1 galactosidase beta 1 gene DOID:0080502 GM1 gangliosidosis type 1 ISO RGD:1347574 D RGD:7240710 20190306 OMIM 12221620 GLB1 galactosidase beta 1 gene DOID:0080502 GM1 gangliosidosis type 1 ISO RGD:1347574 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement | ClinVar Annotator: match by term: Infantile GM1 gangliosidosis PMID:10338095|PMID:10737981|PMID:10839995|PMID:10841810|PMID:11504597|PMID:11511921|PMID:12644936|PMID:1353343|PMID:1487238|PMID:15365997|PMID:15714521|PMID:15906092|PMID:15943552|PMID:15986423|PMID:1606711|PMID:16199547|PMID:16314480|PMID:16538002|PMID:16617000|PMID:16626397|PMID:16674934|PMID:16941474|PMID:17221873|PMID:17309651|PMID:17576681|PMID:17664528|PMID:18524657|PMID:1907800|PMID:1909089|PMID:1928092|PMID:19472408|PMID:19644515|PMID:20175788|PMID:20920281|PMID:21497194|PMID:21520340|PMID:21637542|PMID:22128166|PMID:22234367|PMID:22371915|PMID:22675082|PMID:23151865|PMID:23337983|PMID:23430499|PMID:23430803|PMID:24033266|PMID:24156116|PMID:24767253|PMID:25326635|PMID:25443580|PMID:25557439|PMID:25600812|PMID:25741868|PMID:25936995|PMID:26169295|PMID:26646981|PMID:27619815|PMID:28332257|PMID:28492532|PMID:28554332|PMID:28716012|PMID:28976722|PMID:29160035|PMID:29439846|PMID:30138938|PMID:30267299|PMID:30408610|PMID:30548430|PMID:30809705|PMID:31761138|PMID:31776384|PMID:32219518|PMID:33737400|PMID:7586649|PMID:8068159|PMID:8112731|PMID:8198123|PMID:8199591|PMID:8213816|PMID:8500799|PMID:8652017|PMID:8922281|PMID:9203065|PMID:9536098|PMID:9781688 12221620 GLB1 galactosidase beta 1 gene DOID:0080502 GM1 gangliosidosis type 1 ISO RGD:1347574 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement | ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1 | ClinVar Annotator: match by term: Infantile GM1 gangliosidosis PMID:10338095|PMID:10737981|PMID:10839995|PMID:10841810|PMID:11504597|PMID:11511921|PMID:11727201|PMID:12644936|PMID:12673792|PMID:1353343|PMID:1487238|PMID:15365997|PMID:15714521|PMID:15906092|PMID:15943552|PMID:15986423|PMID:1606711|PMID:16199547|PMID:16314480|PMID:16538002|PMID:16617000|PMID:16626397|PMID:16674934|PMID:16941474|PMID:17221873|PMID:17309651|PMID:17576681|PMID:17664528|PMID:18524657|PMID:1907800|PMID:1909089|PMID:1928092|PMID:19472408|PMID:19644515|PMID:20175788|PMID:20301601|PMID:20920281|PMID:21497194|PMID:21520340|PMID:21637542|PMID:22128166|PMID:22234367|PMID:22371915|PMID:22675082|PMID:23151865|PMID:23337983|PMID:23430499|PMID:23430803|PMID:24033266|PMID:24156116|PMID:24767253|PMID:25326635|PMID:25443580|PMID:25557439|PMID:25600812|PMID:25741868|PMID:25936995|PMID:26169295|PMID:26646981|PMID:27619815|PMID:27679996|PMID:28332257|PMID:28492532|PMID:28554332|PMID:28716012|PMID:28976722|PMID:29160035|PMID:29439846|PMID:30138938|PMID:30267299|PMID:30408610|PMID:30548430|PMID:30809705|PMID:31761138|PMID:31776384|PMID:32219518|PMID:33737400|PMID:7586649|PMID:8068159|PMID:8112731|PMID:8198123|PMID:8199591|PMID:8213816|PMID:8500799|PMID:8652017|PMID:8922281|PMID:9203065|PMID:9536098|PMID:9781688 12221620 GLB1 galactosidase beta 1 gene DOID:0110337 osteogenesis imperfecta type 7 ISO RGD:1347574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 PMID:28492532 12221620 GLB1 galactosidase beta 1 gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:1347574 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 6 PMID:10338095|PMID:11727201|PMID:12673792|PMID:15986423|PMID:16941474|PMID:17309651|PMID:18524657|PMID:20301601|PMID:21637542|PMID:24156116|PMID:25741868|PMID:25936995|PMID:28492532|PMID:31761138 12221620 GLB1 galactosidase beta 1 gene DOID:0111392 mucopolysaccharidosis type IVB ISO RGD:1347574 D RGD:7240710 20191030 OMIM 12221620 GLB1 galactosidase beta 1 gene DOID:0111392 mucopolysaccharidosis type IVB ISO RGD:1347574 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B PMID:10338095|PMID:10737981|PMID:10744681|PMID:10839995|PMID:10841810|PMID:11504597|PMID:11511921|PMID:11727201|PMID:12393180|PMID:12644936|PMID:12673792|PMID:1353343|PMID:1487238|PMID:15365997|PMID:15714521|PMID:15791924|PMID:15906092|PMID:15943552|PMID:15986423|PMID:16199547|PMID:16314480|PMID:16538002|PMID:16617000|PMID:16626397|PMID:16674934|PMID:16941474|PMID:17221873|PMID:17309651|PMID:17576681|PMID:17661814|PMID:17664528|PMID:18353697|PMID:18524657|PMID:18546276|PMID:18571950|PMID:1907800|PMID:1909089|PMID:1928092|PMID:19472408|PMID:19644515|PMID:19763152|PMID:20175788|PMID:20301601|PMID:20307669|PMID:20409738|PMID:20920281|PMID:21214877|PMID:2149194|PMID:21497194|PMID:21520340|PMID:21637542|PMID:22128166|PMID:22234367|PMID:22371915|PMID:22406018|PMID:22675082|PMID:23046582|PMID:23151865|PMID:23337983|PMID:23430499|PMID:23430803|PMID:23757202|PMID:23831247|PMID:24033266|PMID:24156116|PMID:24777551|PMID:25326635|PMID:25326637|PMID:25443580|PMID:25525159|PMID:25557439|PMID:25600812|PMID:25741868|PMID:25936995|PMID:26108645|PMID:26169295|PMID:26646981|PMID:26990548|PMID:27619815|PMID:27679996|PMID:28332257|PMID:28476546|PMID:28492532|PMID:28554332|PMID:28716012|PMID:28976722|PMID:29160035|PMID:29352662|PMID:29396849|PMID:29439846|PMID:29451896|PMID:30138938|PMID:30187681|PMID:30267299|PMID:30408610|PMID:30442161|PMID:30548430|PMID:30555092|PMID:30675867|PMID:30703229|PMID:30809705|PMID:31367523|PMID:31497487|PMID:31761138|PMID:31776384|PMID:31905715|PMID:32005694|PMID:32219518|PMID:32779865|PMID:33083013|PMID:33240792|PMID:33558080|PMID:33673364|PMID:33737400|PMID:34426522|PMID:6791574|PMID:7586649|PMID:8068159|PMID:8112731|PMID:8198123|PMID:8199591|PMID:8213816|PMID:8500799|PMID:8652017|PMID:8922281|PMID:9203065|PMID:9536098|PMID:9781688 12221620 GLB1 galactosidase beta 1 gene DOID:0112280 spondyloepiphyseal dysplasia ISO RGD:1347574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia PMID:10841810|PMID:19472408|PMID:21497194|PMID:23831247|PMID:25741868|PMID:26646981|PMID:28492532|PMID:8922281 12221620 GLB1 galactosidase beta 1 gene DOID:1059 intellectual disability ISO RGD:1347574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12221620 GLB1 galactosidase beta 1 gene DOID:12804 mucopolysaccharidosis IV ISO RGD:1347574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Morquio syndrome 12221620 GLB1 galactosidase beta 1 gene DOID:2256 osteochondrodysplasia ISO RGD:1347574 D RGD:9068941 20230511 CTD CTD Direct Evidence: marker/mechanism PMID:817853 12221620 GLB1 galactosidase beta 1 gene DOID:2773 contact dermatitis ISO RGD:1347574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12221620 GLB1 galactosidase beta 1 gene DOID:3070 high grade glioma ISO RGD:1347574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12221620 GLB1 galactosidase beta 1 gene DOID:3310 atopic dermatitis ISO RGD:1347574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23042114 12221620 GLB1 galactosidase beta 1 gene DOID:3322 GM1 gangliosidosis IAGP D RGD:12801476 20220810 OMIA Gangliosidosis, GM1 PMID:2125250|PMID:1546746|PMID:1388413|PMID:7757284|PMID:9700604|PMID:10887996|PMID:10985700|PMID:11032334|PMID:12555949|PMID:12655116|PMID:15460336|PMID:15944348|PMID:16511797|PMID:19607915|PMID:18088383|PMID:18562164|PMID:20224082|PMID:18840960|PMID:18182512|PMID:17196562|PMID:15305740|PMID:15152837|PMID:11355658|PMID:2494322|PMID:3136586|PMID:3925555|PMID:6813429|PMID:6796586|PMID:6778205|PMID:824730|PMID:22536126|PMID:23121383|PMID:22362802|PMID:22083095|PMID:23819787|PMID:24069350|PMID:24386203|PMID:27036194|PMID:35625088 12221620 GLB1 galactosidase beta 1 gene DOID:3322 GM1 gangliosidosis ISO RGD:1347574 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Beta galactosidase 1 deficiency | ClinVar Annotator: match by term: GM1 gangliosidosis PMID:10338095|PMID:10737981|PMID:10839995|PMID:10841810|PMID:11504597|PMID:11511921|PMID:11727201|PMID:12393180|PMID:12644936|PMID:12673792|PMID:1353343|PMID:1487238|PMID:15365997|PMID:15714521|PMID:15906092|PMID:15943552|PMID:15986423|PMID:16314480|PMID:16538002|PMID:16617000|PMID:16626397|PMID:16674934|PMID:16941474|PMID:17221873|PMID:17309651|PMID:17664528|PMID:18524657|PMID:1907800|PMID:1909089|PMID:1928092|PMID:19472408|PMID:20175788|PMID:20301601|PMID:21214877|PMID:2149194|PMID:21497194|PMID:21520340|PMID:21637542|PMID:22128166|PMID:22675082|PMID:23151865|PMID:23337983|PMID:23430499|PMID:23430803|PMID:24033266|PMID:24156116|PMID:24777551|PMID:25326635|PMID:25443580|PMID:25557439|PMID:25600812|PMID:25741868|PMID:25936995|PMID:26108645|PMID:26169295|PMID:26646981|PMID:26990548|PMID:28332257|PMID:28476546|PMID:28492532|PMID:28554332|PMID:28716012|PMID:28976722|PMID:29352662|PMID:29396849|PMID:29439846|PMID:30267299|PMID:30408610|PMID:30548430|PMID:30555092|PMID:30809705|PMID:31367523|PMID:31761138|PMID:31776384|PMID:33083013|PMID:33240792|PMID:33737400|PMID:34426522|PMID:7586649|PMID:8068159|PMID:8112731|PMID:8213816|PMID:8500799|PMID:8652017|PMID:8922281|PMID:9203065|PMID:9781688 12221620 GLB1 galactosidase beta 1 gene DOID:3322 GM1 gangliosidosis treatment ISO RGD:10651 D RGD:9068941 20200609 RGD PMID:25964428|REF_RGD_ID:11086251 12221620 GLB1 galactosidase beta 1 gene DOID:5419 schizophrenia ISO RGD:1347574 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12221620 GLB1 galactosidase beta 1 gene DOID:630 genetic disease ISO RGD:1347574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10338095|PMID:11511921|PMID:15714521|PMID:15986423|PMID:17309651|PMID:17661814|PMID:19472408|PMID:20175788|PMID:21497194|PMID:21520340|PMID:22128166|PMID:23337983|PMID:25326637|PMID:25557439|PMID:25741868|PMID:28476546|PMID:28492532|PMID:28554332|PMID:29352662|PMID:30267299|PMID:30442161|PMID:31367523|PMID:31761138|PMID:33240792|PMID:33737400|PMID:6791574|PMID:8198123|PMID:8213816|PMID:8652017 12221620 GLB1 galactosidase beta 1 gene DOID:9008606 Corneal Opacity ISO RGD:1347574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:817853 12221620 GLB1 galactosidase beta 1 gene DOID:9008821 Otitis Media with Effusion ISO RGD:8953752 D RGD:9068941 20200609 RGD PMID:2837976|REF_RGD_ID:11557999 12221639 RNASEH1 ribonuclease H1 gene DOID:0111515 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 ISO RGD:1319116 D RGD:7240710 20180130 OMIM 12221639 RNASEH1 ribonuclease H1 gene DOID:0111515 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 ISO RGD:1319116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 PMID:25741868|PMID:26094573|PMID:28492532|PMID:28508084 12221639 RNASEH1 ribonuclease H1 gene DOID:0111881 Diamond-Blackfan anemia 8 ISO RGD:1319116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 PMID:28492532 12221639 RNASEH1 ribonuclease H1 gene DOID:630 genetic disease ISO RGD:1319116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12221655 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:0111590 Cohen syndrome ISO RGD:736756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12221655 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:10763 hypertension treatment ISO RGD:3980 D RGD:9068941 20200609 RGD PMID:22984478|REF_RGD_ID:9587480 12221655 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:11832 visual epilepsy ISO RGD:3980 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:16981892|REF_RGD_ID:1625714 12221655 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:1825 childhood absence epilepsy ISO RGD:3980 D RGD:9068941 20200609 RGD protein:increased expression:parietal lobe PMID:21310218|REF_RGD_ID:9587483 12221655 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:305 carcinoma ISO RGD:736756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12221655 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:5419 schizophrenia ISO RGD:11498 D RGD:9068941 20220825 MouseDO OMIM:181500 12221655 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:684 hepatocellular carcinoma severity ISO RGD:736756 D RGD:9068941 20200609 RGD PMID:27811373|REF_RGD_ID:14700875 12221655 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12221655 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12221655 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:736756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16849584 12221655 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12221655 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:9007993 Dehydration ISO RGD:3980 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:supraoptic nucleus, pituitary PMID:17927670|REF_RGD_ID:9587478 12221669 MGLL monoglyceride lipase gene DOID:0111947 immunodeficiency 21 ISO RGD:734078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12221669 MGLL monoglyceride lipase gene DOID:11476 osteoporosis ISO RGD:734078 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12221669 MGLL monoglyceride lipase gene DOID:13938 amenorrhea ISO RGD:734078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12221669 MGLL monoglyceride lipase gene DOID:5082 liver cirrhosis ISO RGD:734078 D RGD:9068941 20201218 CTD CTD Direct Evidence: therapeutic PMID:30301768 12221669 MGLL monoglyceride lipase gene DOID:630 genetic disease ISO RGD:734078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221669 MGLL monoglyceride lipase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:734078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 12221669 MGLL monoglyceride lipase gene DOID:9270 alkaptonuria ISO RGD:734078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12221689 ZMYND8 zinc finger MYND-type containing 8 gene DOID:1059 intellectual disability ISO RGD:1319938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12221689 ZMYND8 zinc finger MYND-type containing 8 gene DOID:2234 focal epilepsy ISO RGD:1319938 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12221689 ZMYND8 zinc finger MYND-type containing 8 gene DOID:630 genetic disease ISO RGD:1319938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221765 HTR7 5-hydroxytryptamine receptor 7 gene DOID:0080000 muscular disease ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17600820 12221765 HTR7 5-hydroxytryptamine receptor 7 gene DOID:10914 amnestic disorder ISO RGD:71034 D RGD:9068941 20200609 RGD PMID:18570192|REF_RGD_ID:6482184 12221765 HTR7 5-hydroxytryptamine receptor 7 gene DOID:10933 obsessive-compulsive disorder ISO RGD:732164 D RGD:9068941 20200609 RGD PMID:17267119|REF_RGD_ID:6482188 12221765 HTR7 5-hydroxytryptamine receptor 7 gene DOID:1561 cognitive disorder ISO RGD:71034 D RGD:9068941 20200609 RGD PMID:21558435|REF_RGD_ID:6480666 12221765 HTR7 5-hydroxytryptamine receptor 7 gene DOID:1574 alcohol use disorder ISO RGD:1346949 D RGD:9068941 20211008 RGD DNA:SNP:intron: (rs7916403) (human) PMID:21184583|REF_RGD_ID:150429835 12221765 HTR7 5-hydroxytryptamine receptor 7 gene DOID:1596 depressive disorder ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21859099 12221765 HTR7 5-hydroxytryptamine receptor 7 gene DOID:1596 depressive disorder ISO RGD:732164 D RGD:9068941 20200609 RGD PMID:16828124|REF_RGD_ID:6482189 12221765 HTR7 5-hydroxytryptamine receptor 7 gene DOID:1825 childhood absence epilepsy ISO RGD:71034 D RGD:9068941 20200609 RGD PMID:15050708|REF_RGD_ID:6480686 12221765 HTR7 5-hydroxytryptamine receptor 7 gene DOID:1826 epilepsy ISO RGD:732164 D RGD:9068941 20200609 RGD PMID:17485199|REF_RGD_ID:6482190 12221765 HTR7 5-hydroxytryptamine receptor 7 gene DOID:2030 anxiety disorder ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21859099 12221765 HTR7 5-hydroxytryptamine receptor 7 gene DOID:2030 anxiety disorder ISO RGD:71034 D RGD:9068941 20200609 RGD PMID:16828124|REF_RGD_ID:6482189 12221765 HTR7 5-hydroxytryptamine receptor 7 gene DOID:2030 anxiety disorder ISO RGD:732164 D RGD:9068941 20200609 RGD PMID:16828124|REF_RGD_ID:6482189 12221765 HTR7 5-hydroxytryptamine receptor 7 gene DOID:535 sleep disorder ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21859099 12221765 HTR7 5-hydroxytryptamine receptor 7 gene DOID:5419 schizophrenia ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12165372 12221765 HTR7 5-hydroxytryptamine receptor 7 gene DOID:630 genetic disease ISO RGD:1346949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221765 HTR7 5-hydroxytryptamine receptor 7 gene DOID:6364 migraine ISO RGD:71034 D RGD:9068941 20200609 RGD PMID:20236348|REF_RGD_ID:6482182 12221765 HTR7 5-hydroxytryptamine receptor 7 gene DOID:8927 learning disability ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21859099 12221765 HTR7 5-hydroxytryptamine receptor 7 gene DOID:9000641 Pain ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17600820 12221765 HTR7 5-hydroxytryptamine receptor 7 gene DOID:9000998 Brain Injuries ISO RGD:71034 D RGD:9068941 20200609 RGD PMID:22465320|REF_RGD_ID:6482178 12221765 HTR7 5-hydroxytryptamine receptor 7 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:71034 D RGD:9068941 20200609 RGD protein:decreased expression: : PMID:21693130|REF_RGD_ID:6480665 12221765 HTR7 5-hydroxytryptamine receptor 7 gene DOID:9002211 Hyperalgesia ISO RGD:71034 D RGD:9068941 20200609 RGD PMID:21693130|PMID:21843960|REF_RGD_ID:6480665|REF_RGD_ID:6482179 12221765 HTR7 5-hydroxytryptamine receptor 7 gene DOID:9002362 Hyperkinesis ISO RGD:732164 D RGD:9068941 20200609 RGD PMID:18332680|REF_RGD_ID:6482186 12221765 HTR7 5-hydroxytryptamine receptor 7 gene DOID:9008023 Memory Disorders ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21859099 12221765 HTR7 5-hydroxytryptamine receptor 7 gene DOID:9778 irritable bowel syndrome ISO RGD:71034 D RGD:9068941 20200609 RGD protein:increased expression:brain, intestine PMID:18167178|REF_RGD_ID:6480673 12221775 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:0050827 rheumatic heart disease ISO RGD:3831 D RGD:9068941 20230202 RGD mRNA, protein:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 12221775 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 12221775 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:0060457 posterior polymorphous corneal dystrophy ISO RGD:1299953 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy PMID:25741868 12221775 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:0110855 posterior polymorphous corneal dystrophy 1 ISO RGD:1299953 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CORNEAL DYSTROPHY, HEREDITARY POLYMORPHOUS POSTERIOR | ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1 PMID:25741868 12221775 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:0110857 posterior polymorphous corneal dystrophy 3 ISO RGD:1299953 D RGD:7240710 20180130 OMIM 12221775 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:0110857 posterior polymorphous corneal dystrophy 3 ISO RGD:1299953 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 3 PMID:12654361|PMID:16252232|PMID:23599324|PMID:25741868|PMID:28492532|PMID:36613650 12221775 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:1686 glaucoma ISO RGD:1299953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma PMID:25741868 12221775 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:2566 corneal dystrophy ISO RGD:1299953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal dystrophy PMID:25741868 12221775 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:321 tropical spastic paraparesis ISO RGD:1552190 D RGD:9068941 20220825 MouseDO OMIM:159580 12221775 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12221775 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:5773 oral submucous fibrosis ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26934322 12221775 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:630 genetic disease ISO RGD:1299953 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12221775 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:8541 Sezary's disease ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 12221775 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:9000918 Disease Progression ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19839049 12221775 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:9002352 Corneal Dystrophy, Fuchs Endothelial, 6 ISO RGD:1299953 D RGD:7240710 20180130 OMIM 12221775 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:9002352 Corneal Dystrophy, Fuchs Endothelial, 6 ISO RGD:1299953 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 6 PMID:20036349|PMID:23599324|PMID:25741868|PMID:26622166|PMID:28492532|PMID:33116287 12221775 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18622689 12221775 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21954225 12221775 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12221775 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21954225 12221775 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18622689 12221775 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19839049|PMID:21501481 12221775 ZEB1 zinc finger E-box binding homeobox 1 gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:3831 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 12221805 FETUB fetuin B gene DOID:0060575 3MC syndrome 1 ISO RGD:1348659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 12221805 FETUB fetuin B gene DOID:630 genetic disease ISO RGD:1348659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221805 FETUB fetuin B gene DOID:9003281 Spontaneous Abortions ISO RGD:1348659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12221817 SEMA6C semaphorin 6C gene DOID:0111940 immunodeficiency 42 ISO RGD:732717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12221817 SEMA6C semaphorin 6C gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12221817 SEMA6C semaphorin 6C gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12221817 SEMA6C semaphorin 6C gene DOID:1540 parathyroid carcinoma ISO RGD:732717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12221817 SEMA6C semaphorin 6C gene DOID:5812 MHC class II deficiency ISO RGD:732717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12221817 SEMA6C semaphorin 6C gene DOID:630 genetic disease ISO RGD:732717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221817 SEMA6C semaphorin 6C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12221858 CENPB centromere protein B gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1312443 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12221858 CENPB centromere protein B gene DOID:12236 primary biliary cholangitis ISO RGD:1312443 D RGD:9068941 20200609 RGD PMID:8911074|REF_RGD_ID:27226708 12221858 CENPB centromere protein B gene DOID:2952 inner ear disease ISO RGD:1312443 D RGD:9068941 20200609 RGD associated with limited scleroderma PMID:18520322|REF_RGD_ID:27226707 12221858 CENPB centromere protein B gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1312443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12221858 CENPB centromere protein B gene DOID:630 genetic disease ISO RGD:1312443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221858 CENPB centromere protein B gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1312443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 12221864 LOC485809 signal-regulatory protein beta-1 gene DOID:630 genetic disease ISO RGD:1347883 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221871 LOC486307 piwi-like protein 1 gene DOID:14228 oligospermia ISO RGD:1351572 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20940137 12221871 LOC486307 piwi-like protein 1 gene DOID:630 genetic disease ISO RGD:1351572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221896 USP5 ubiquitin specific peptidase 5 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1318206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12221896 USP5 ubiquitin specific peptidase 5 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1318206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12221896 USP5 ubiquitin specific peptidase 5 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1318206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12221896 USP5 ubiquitin specific peptidase 5 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1318206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12221896 USP5 ubiquitin specific peptidase 5 gene DOID:0111621 Temtamy syndrome ISO RGD:1318206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12221896 USP5 ubiquitin specific peptidase 5 gene DOID:630 genetic disease ISO RGD:1318206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221896 USP5 ubiquitin specific peptidase 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1318206 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12221896 USP5 ubiquitin specific peptidase 5 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1318206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12221927 MEGF11 multiple EGF like domains 11 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1603600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12221927 MEGF11 multiple EGF like domains 11 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12221927 MEGF11 multiple EGF like domains 11 gene DOID:2717 Bloom syndrome ISO RGD:1603600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12221927 MEGF11 multiple EGF like domains 11 gene DOID:630 genetic disease ISO RGD:1603600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221927 MEGF11 multiple EGF like domains 11 gene DOID:9256 colorectal cancer ISO RGD:1603600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12221960 NMUR2 neuromedin U receptor 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343070 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12221960 NMUR2 neuromedin U receptor 2 gene DOID:630 genetic disease ISO RGD:1343070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12221960 NMUR2 neuromedin U receptor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343070 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:0050827 rheumatic heart disease treatment ISO RGD:69272 D RGD:9068941 20220121 RGD PMID:31894293|REF_RGD_ID:151347417 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:0050861 colorectal adenocarcinoma no_association ISO RGD:1347441 D RGD:9068941 20220107 RGD PMID:25339048|REF_RGD_ID:150573690 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1347441 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:12888825|REF_RGD_ID:2298909 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:0060180 colitis ISO RGD:737488 D RGD:9068941 20220114 RGD PMID:16717119|REF_RGD_ID:150573704 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:0080199 colorectal carcinoma ISO RGD:737488 D RGD:9068941 20220114 RGD PMID:16717119|REF_RGD_ID:150573704 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1347441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:10283 prostate cancer ISO RGD:1347441 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:16458425|REF_RGD_ID:2290486 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:11054 urinary bladder cancer ISO RGD:1347441 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:17522834|REF_RGD_ID:2298903 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1347441 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:16242928|REF_RGD_ID:2298906 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:12351 alcoholic hepatitis ISO RGD:69272 D RGD:9068941 20220121 RGD mRNA:decreased expression:liver PMID:32317960|REF_RGD_ID:151347420 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:14115 toxic shock syndrome severity ISO RGD:732457 D RGD:9068941 20220114 RGD PMID:19469017|REF_RGD_ID:150573701 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:1909 melanoma ameliorates ISO RGD:732457 D RGD:9068941 20220114 RGD PMID:19469017|REF_RGD_ID:150573701 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:219 colon cancer ameliorates ISO RGD:732457 D RGD:9068941 20220114 RGD PMID:19469017|REF_RGD_ID:150573701 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:69272 D RGD:9068941 20220121 RGD PMID:33081480|REF_RGD_ID:151347423 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1347441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:2600 laryngeal carcinoma severity ISO RGD:1347441 D RGD:9068941 20220114 RGD PMID:20164024|REF_RGD_ID:150573814 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:1347441 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:12888825|REF_RGD_ID:2298909 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1347441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347441 D RGD:9068941 20220114 RGD mRNA:decreased expression:esophagus PMID:31728180|REF_RGD_ID:150573815 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1347441 D RGD:9068941 20220107 RGD PMID:21385099|REF_RGD_ID:150573691 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:3748 esophagus squamous cell carcinoma treatment ISO RGD:732457 D RGD:9068941 20220114 RGD PMID:28233302|REF_RGD_ID:150573812 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1347441 D RGD:9068941 20220114 RGD PMID:31910343|REF_RGD_ID:150573699 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:4001 ovarian carcinoma ISO RGD:1347441 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:15361843|REF_RGD_ID:2298907 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:409 liver disease ISO RGD:1347441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15197228 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:5041 esophageal cancer ISO RGD:1347441 D RGD:9068941 20220114 RGD mRNA,protein:decreased expression:esophagus: PMID:33862112|REF_RGD_ID:151232285 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:5082 liver cirrhosis exacerbates ISO RGD:732457 D RGD:9068941 20220114 RGD associated with Chemical and Drug Induced Liver Injury; PMID:30097285|REF_RGD_ID:150573810 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1347441 D RGD:9068941 20200609 RGD mRNA:decreased expression:uterine cervix PMID:16878360|REF_RGD_ID:2298904 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:5812 MHC class II deficiency ISO RGD:1347441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:5844 myocardial infarction ISO RGD:69272 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:16377761|REF_RGD_ID:2298918 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:630 genetic disease ISO RGD:1347441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1347441 D RGD:9068941 20220107 RGD associated with liver cirrhosis;DNA:altered methylation:liver: PMID:14614012|REF_RGD_ID:150573687 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1347441 D RGD:9068941 20220114 RGD DNA:hypermethylation:CpG island, 5'untranslated region: PMID:15235874|REF_RGD_ID:150573700 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:684 hepatocellular carcinoma ISO RGD:69272 D RGD:9068941 20220107 RGD PMID:18843197|REF_RGD_ID:150573689 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1347441 D RGD:9068941 20220114 RGD PMID:22318090|REF_RGD_ID:150573703 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:718 autoimmune hemolytic anemia ISO RGD:1347441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic autoimmune hemolytic anemia PMID:32853638|PMID:33087723 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1347441 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoimmune thrombocytopenic purpura | ClinVar Annotator: match by term: Idiopathic thrombocytopenic purpura PMID:32853638|PMID:33087723 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15197228 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1347441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15197228 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:9002063 Familial Autoinflammatory Syndrome, with or without Immunodeficiency ISO RGD:1347441 D RGD:7240710 20210707 OMIM 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:9002063 Familial Autoinflammatory Syndrome, with or without Immunodeficiency ISO RGD:1347441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY PMID:25741868|PMID:32499645|PMID:32853638|PMID:33087723 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:69272 D RGD:9068941 20220121 RGD PMID:31599432|REF_RGD_ID:151347182 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1347441 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25780291 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:9004484 Sepsis ISO RGD:69272 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11312157|REF_RGD_ID:634751 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:9004484 Sepsis ISO RGD:69272 D RGD:9068941 20200609 RGD protein:increased expression:gastrocnemius PMID:12644450|REF_RGD_ID:2298924 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347441 D RGD:9068941 20200609 RGD PMID:20354188|REF_RGD_ID:21079418 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732457 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:18381452|REF_RGD_ID:2298899 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:9005647 Experimental Autoimmune Uveitis ameliorates ISO RGD:732457 D RGD:9068941 20220114 RGD PMID:24993154|REF_RGD_ID:151232288 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:9005930 Endotoxemia ISO RGD:732457 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, skeletal muscle PMID:15169905|REF_RGD_ID:2298923 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:9005968 Neuralgia treatment ISO RGD:69272 D RGD:9068941 20220121 RGD PMID:27059231|REF_RGD_ID:151347419 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:732457 D RGD:9068941 20200609 RGD associated with Obesity PMID:15240880|REF_RGD_ID:1625677 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:9007204 Dysbiosis ISO RGD:732457 D RGD:9068941 20220107 RGD PMID:30820436|REF_RGD_ID:150573685 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:9007692 Insulin Resistance ISO RGD:732457 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:15240880|REF_RGD_ID:1625677 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:69272 D RGD:9068941 20220121 RGD PMID:27538408|REF_RGD_ID:151347179 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:9008907 Immuno-Hemolytic Anemia ISO RGD:1347441 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Immuno-hemolytic anemia PMID:32853638|PMID:33087723 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1347441 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:15361843|REF_RGD_ID:2298907 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1347441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus PMID:33087723 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1347441 D RGD:9068941 20220114 RGD DNA:hypermethylation: : PMID:12759928|REF_RGD_ID:150573811 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1347441 D RGD:9068941 20220107 RGD PMID:27133036|REF_RGD_ID:150573688 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:9351 diabetes mellitus ameliorates ISO RGD:732457 D RGD:9068941 20220114 RGD PMID:15100317|REF_RGD_ID:151232286 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:9452 fatty liver disease ISO RGD:732457 D RGD:9068941 20200609 RGD associated with Obesity PMID:15240880|REF_RGD_ID:1625677 12221974 SOCS1 suppressor of cytokine signaling 1 gene DOID:9970 obesity ISO RGD:69272 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:white fat PMID:11027633|REF_RGD_ID:2298920 12221978 ILDR2 immunoglobulin like domain containing receptor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1345788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12221978 ILDR2 immunoglobulin like domain containing receptor 2 gene DOID:630 genetic disease ISO RGD:1345788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12221978 ILDR2 immunoglobulin like domain containing receptor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12222012 GPR143 G protein-coupled receptor 143 gene DOID:0050633 ocular albinism ISO RGD:1558529 D RGD:9068941 20220825 MouseDO OMIM:300500 12222012 GPR143 G protein-coupled receptor 143 gene DOID:0111795 congenital nystagmus 6 ISO RGD:1353035 D RGD:7240710 20180130 OMIM 12222012 GPR143 G protein-coupled receptor 143 gene DOID:0111795 congenital nystagmus 6 ISO RGD:1353035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nystagmus 6, congenital, X-linked PMID:15965158|PMID:17516023|PMID:18523664|PMID:18978956|PMID:19390656|PMID:21541274|PMID:25741868|PMID:26160353|PMID:28211458|PMID:28492532 12222012 GPR143 G protein-coupled receptor 143 gene DOID:12849 autistic disorder ISO RGD:1353035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12222012 GPR143 G protein-coupled receptor 143 gene DOID:630 genetic disease ISO RGD:1353035 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11115845|PMID:11214907|PMID:16704458|PMID:21541274|PMID:21739261|PMID:25741868|PMID:27734839|PMID:28492532|PMID:28559085|PMID:29345414|PMID:34251969|PMID:7647783 12222012 GPR143 G protein-coupled receptor 143 gene DOID:9001386 Albinism ISO RGD:1353035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Albinism PMID:28041643|PMID:8634705 12222012 GPR143 G protein-coupled receptor 143 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12222012 GPR143 G protein-coupled receptor 143 gene DOID:9005467 Ocular Albinism Type 1 ISO RGD:1353035 D RGD:7240710 20180130 OMIM 12222012 GPR143 G protein-coupled receptor 143 gene DOID:9005467 Ocular Albinism Type 1 ISO RGD:1353035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ocular albinism, type I PMID:11214907|PMID:11520764|PMID:1427786|PMID:15965158|PMID:16199547|PMID:1652548|PMID:16646960|PMID:17576681|PMID:17960122|PMID:18978956|PMID:19390656|PMID:19610097|PMID:21541274|PMID:25741868|PMID:26160353|PMID:28211458|PMID:28492532|PMID:5125647|PMID:7647783|PMID:8400292|PMID:8634705|PMID:9529334|PMID:9536098|PMID:9887374 12222012 GPR143 G protein-coupled receptor 143 gene DOID:9650 pathologic nystagmus ISO RGD:1353035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:15965158|PMID:18978956|PMID:19390656|PMID:21541274|PMID:25741868|PMID:26160353|PMID:28211458|PMID:28492532 12222053 MAP3K15 mitogen-activated protein kinase kinase kinase 15 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1345894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12222053 MAP3K15 mitogen-activated protein kinase kinase kinase 15 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12222053 MAP3K15 mitogen-activated protein kinase kinase kinase 15 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1345894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12222053 MAP3K15 mitogen-activated protein kinase kinase kinase 15 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1345894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12222053 MAP3K15 mitogen-activated protein kinase kinase kinase 15 gene DOID:12849 autistic disorder ISO RGD:1345894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12222053 MAP3K15 mitogen-activated protein kinase kinase kinase 15 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1345894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12222053 MAP3K15 mitogen-activated protein kinase kinase kinase 15 gene DOID:630 genetic disease ISO RGD:1345894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222053 MAP3K15 mitogen-activated protein kinase kinase kinase 15 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:1345894 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:25741868 12222053 MAP3K15 mitogen-activated protein kinase kinase kinase 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12222084 PADI4 peptidyl arginine deiminase 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1348860 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12222084 PADI4 peptidyl arginine deiminase 4 gene DOID:305 carcinoma ISO RGD:1348860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12222084 PADI4 peptidyl arginine deiminase 4 gene DOID:630 genetic disease ISO RGD:1348860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222084 PADI4 peptidyl arginine deiminase 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1348860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis 12222084 PADI4 peptidyl arginine deiminase 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1348860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12222084 PADI4 peptidyl arginine deiminase 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1348860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12222104 CRLS1 cardiolipin synthase 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1322279 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12222104 CRLS1 cardiolipin synthase 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1322279 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12222104 CRLS1 cardiolipin synthase 1 gene DOID:630 genetic disease ISO RGD:1322279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222104 CRLS1 cardiolipin synthase 1 gene DOID:9001293 Combined Oxidative Phosphorylation Deficiency 57 ISO RGD:1322279 D RGD:7240710 20230125 OMIM 12222104 CRLS1 cardiolipin synthase 1 gene DOID:9001293 Combined Oxidative Phosphorylation Deficiency 57 ISO RGD:1322279 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 57 PMID:35147173 12222120 HOXC8 homeobox C8 gene DOID:630 genetic disease ISO RGD:1353627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222120 HOXC8 homeobox C8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12222129 TENT2 terminal nucleotidyltransferase 2 gene DOID:630 genetic disease ISO RGD:1315054 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222129 TENT2 terminal nucleotidyltransferase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12222156 TMEM126A transmembrane protein 126A gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1604272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 12222156 TMEM126A transmembrane protein 126A gene DOID:0111437 optic atrophy 7 ISO RGD:1604272 D RGD:7240710 20180130 OMIM 12222156 TMEM126A transmembrane protein 126A gene DOID:0111437 optic atrophy 7 ISO RGD:1604272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy 7 PMID:19327736|PMID:20405026|PMID:22815638|PMID:25741868|PMID:28492532|PMID:30369941 12222156 TMEM126A transmembrane protein 126A gene DOID:1059 intellectual disability ISO RGD:1604272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12222156 TMEM126A transmembrane protein 126A gene DOID:630 genetic disease ISO RGD:1604272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12222156 TMEM126A transmembrane protein 126A gene DOID:9005850 Hereditary Optic Atrophies ISO RGD:1604272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic Atrophy, Recessive 12222184 SLC66A3 solute carrier family 66 member 3 gene DOID:5419 schizophrenia ISO RGD:1315648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12222184 SLC66A3 solute carrier family 66 member 3 gene DOID:630 genetic disease ISO RGD:1315648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222184 SLC66A3 solute carrier family 66 member 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315648 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12222184 SLC66A3 solute carrier family 66 member 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1315648 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 12222195 LIPM lipase family member M gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1312623 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:18456716|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9467011 12222195 LIPM lipase family member M gene DOID:630 genetic disease ISO RGD:1312623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222195 LIPM lipase family member M gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1312623 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 12222208 SLAIN1 SLAIN motif family member 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1603921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12222208 SLAIN1 SLAIN motif family member 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10528251|PMID:20127975|PMID:20157158|PMID:22589734|PMID:28492532|PMID:30394532|PMID:31406620|PMID:32393339|PMID:8001159 12222208 SLAIN1 SLAIN motif family member 1 gene DOID:630 genetic disease ISO RGD:1603921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222223 HCFC1R1 host cell factor C1 regulator 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1351730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12222223 HCFC1R1 host cell factor C1 regulator 1 gene DOID:1826 epilepsy ISO RGD:1351730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12222223 HCFC1R1 host cell factor C1 regulator 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1351730 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12222223 HCFC1R1 host cell factor C1 regulator 1 gene DOID:630 genetic disease ISO RGD:1351730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222243 TXNL4B thioredoxin like 4B gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1344635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12222243 TXNL4B thioredoxin like 4B gene DOID:630 genetic disease ISO RGD:1344635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222258 ZNF689 zinc finger protein 689 gene DOID:630 genetic disease ISO RGD:1602103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222272 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1347522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 12222272 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:1347522 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 PMID:25741868 12222272 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1347522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12222272 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1347522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12222272 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:12849 autistic disorder ISO RGD:1347522 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 12222272 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:1826 epilepsy ISO RGD:1347522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:28492532 12222272 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1347522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12222272 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:630 genetic disease ISO RGD:1347522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30612693|PMID:30945334 12222272 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:9004009 Reperfusion Injury ISO RGD:1563691 D RGD:9068941 20200609 RGD protein:increased activity:hippocampus PMID:16805806|REF_RGD_ID:2293339 12222272 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347522 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30612693|PMID:30945334 12222272 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:9005897 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES ISO RGD:1347522 D RGD:7240710 20190918 OMIM 12222272 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:9005897 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES ISO RGD:1347522 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES PMID:25741868|PMID:30612693|PMID:30945334 12222272 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1347522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12222272 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:9008582 Developmental Disease ISO RGD:1347522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12222308 FOXF2 forkhead box F2 gene DOID:630 genetic disease ISO RGD:1352114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222308 FOXF2 forkhead box F2 gene DOID:9007096 Stroke ISO RGD:1352114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 12222313 NT5DC2 5'-nucleotidase domain containing 2 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1601740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12222313 NT5DC2 5'-nucleotidase domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1601740 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12222313 NT5DC2 5'-nucleotidase domain containing 2 gene DOID:630 genetic disease ISO RGD:1601740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222384 MRPL9 mitochondrial ribosomal protein L9 gene DOID:0111940 immunodeficiency 42 ISO RGD:1350314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12222384 MRPL9 mitochondrial ribosomal protein L9 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1350314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12222384 MRPL9 mitochondrial ribosomal protein L9 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1350314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12222384 MRPL9 mitochondrial ribosomal protein L9 gene DOID:1540 parathyroid carcinoma ISO RGD:1350314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12222384 MRPL9 mitochondrial ribosomal protein L9 gene DOID:5812 MHC class II deficiency ISO RGD:1350314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12222384 MRPL9 mitochondrial ribosomal protein L9 gene DOID:630 genetic disease ISO RGD:1350314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222384 MRPL9 mitochondrial ribosomal protein L9 gene DOID:9008939 Breast Neoplasms ISO RGD:1350314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12222384 MRPL9 mitochondrial ribosomal protein L9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12222410 DDX41 DEAD-box helicase 41 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1323380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12222410 DDX41 DEAD-box helicase 41 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1323380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome PMID:25741868|PMID:26712909|PMID:27133828|PMID:27795557|PMID:28492532|PMID:28547672|PMID:30963592|PMID:31484648|PMID:32098966|PMID:33585199 12222410 DDX41 DEAD-box helicase 41 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1323380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12222410 DDX41 DEAD-box helicase 41 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1323380 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 12222410 DDX41 DEAD-box helicase 41 gene DOID:12449 aplastic anemia ISO RGD:1323380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aplastic anemia 12222410 DDX41 DEAD-box helicase 41 gene DOID:2226 myeloproliferative neoplasm ISO RGD:1323380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to PMID:17576681|PMID:25741868|PMID:25920683|PMID:26712909|PMID:27133828|PMID:27174803|PMID:27721487|PMID:27795557|PMID:28492532|PMID:28547672|PMID:30963592|PMID:31484648|PMID:31713024|PMID:32054657|PMID:32098966|PMID:33585199|PMID:33626862|PMID:9536098 12222410 DDX41 DEAD-box helicase 41 gene DOID:2226 myeloproliferative neoplasm susceptibility ISO RGD:1323380 D RGD:7240710 20230118 OMIM 12222410 DDX41 DEAD-box helicase 41 gene DOID:4961 bone marrow disease ISO RGD:1323380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bone marrow hypocellularity PMID:25741868|PMID:26712909|PMID:27133828|PMID:27795557|PMID:28492532|PMID:28547672|PMID:30963592|PMID:31484648|PMID:32054657|PMID:32098966|PMID:33585199 12222410 DDX41 DEAD-box helicase 41 gene DOID:630 genetic disease ISO RGD:1323380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12222410 DDX41 DEAD-box helicase 41 gene DOID:9000647 Acute Erythroleukemia ISO RGD:1323380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 12222410 DDX41 DEAD-box helicase 41 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1323380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12222410 DDX41 DEAD-box helicase 41 gene DOID:9119 acute myeloid leukemia ISO RGD:1323380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:25741868|PMID:25920683|PMID:26712909|PMID:27133828|PMID:28492532|PMID:28547672|PMID:30963592|PMID:33585199 12222437 FMO2 flavin containing dimethylaniline monoxygenase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733627 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12222437 FMO2 flavin containing dimethylaniline monoxygenase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:733627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12222437 FMO2 flavin containing dimethylaniline monoxygenase 2 gene DOID:289 endometriosis ISO RGD:733627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12222437 FMO2 flavin containing dimethylaniline monoxygenase 2 gene DOID:630 genetic disease ISO RGD:733627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222437 FMO2 flavin containing dimethylaniline monoxygenase 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:733627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12222437 FMO2 flavin containing dimethylaniline monoxygenase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12222453 PYCR2 pyrroline-5-carboxylate reductase 2 gene DOID:0060788 hypomyelinating leukodystrophy 10 ISO RGD:1320768 D RGD:7240710 20180130 OMIM 12222453 PYCR2 pyrroline-5-carboxylate reductase 2 gene DOID:0060788 hypomyelinating leukodystrophy 10 ISO RGD:1320768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 10 PMID:25741868|PMID:25865492|PMID:27130255|PMID:27860360|PMID:28492532 12222453 PYCR2 pyrroline-5-carboxylate reductase 2 gene DOID:10907 microcephaly ISO RGD:1320768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12222453 PYCR2 pyrroline-5-carboxylate reductase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1320768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12222453 PYCR2 pyrroline-5-carboxylate reductase 2 gene DOID:630 genetic disease ISO RGD:1320768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12222453 PYCR2 pyrroline-5-carboxylate reductase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12222467 AASDH aminoadipate-semialdehyde dehydrogenase gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1606160 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 12222467 AASDH aminoadipate-semialdehyde dehydrogenase gene DOID:630 genetic disease ISO RGD:1606160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222497 RMDN2 regulator of microtubule dynamics 2 gene DOID:0080690 RASopathy ISO RGD:1605570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12222497 RMDN2 regulator of microtubule dynamics 2 gene DOID:3883 Lynch syndrome ISO RGD:1605570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12222497 RMDN2 regulator of microtubule dynamics 2 gene DOID:630 genetic disease ISO RGD:1605570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222497 RMDN2 regulator of microtubule dynamics 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12222524 DMBT1 deleted in malignant brain tumors 1 gene DOID:0050771 pheochromocytoma ISO RGD:61984 D RGD:9068941 20200609 RGD mRNA:decreased expression PMID:17102098|REF_RGD_ID:1599780 12222524 DMBT1 deleted in malignant brain tumors 1 gene DOID:2340 craniosynostosis ISO RGD:735357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 12222524 DMBT1 deleted in malignant brain tumors 1 gene DOID:3068 glioblastoma ISO RGD:735357 D RGD:9068941 20200609 RGD DNA:deletion PMID:9288095|REF_RGD_ID:1599778 12222524 DMBT1 deleted in malignant brain tumors 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12222524 DMBT1 deleted in malignant brain tumors 1 gene DOID:630 genetic disease ISO RGD:735357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222524 DMBT1 deleted in malignant brain tumors 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:735357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12222524 DMBT1 deleted in malignant brain tumors 1 gene DOID:9007971 Nose Neoplasms ISO RGD:61984 D RGD:9068941 20200609 RGD mRNA, Protein:increased expression PMID:12419858|REF_RGD_ID:1599782 12222599 DRD1 dopamine receptor D1 gene DOID:0060001 withdrawal disorder ISO RGD:2518 D RGD:9068941 20200609 RGD protein:increased expression:nucleus accumbens (rat) PMID:20435100|REF_RGD_ID:7248622 12222599 DRD1 dopamine receptor D1 gene DOID:0081292 traumatic brain injury treatment ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:24047867|REF_RGD_ID:13506948 12222599 DRD1 dopamine receptor D1 gene DOID:10652 Alzheimer's disease ISO RGD:70828 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex, neuron PMID:17182012|REF_RGD_ID:5686412 12222599 DRD1 dopamine receptor D1 gene DOID:1074 kidney failure ISO RGD:70828 D RGD:9068941 20200609 RGD DNA:polymorphism:5' utr:g.-94G>A (human) PMID:19675531|REF_RGD_ID:7248447 12222599 DRD1 dopamine receptor D1 gene DOID:10763 hypertension ISO RGD:10485 D RGD:9068941 20200609 RGD PMID:8636408|REF_RGD_ID:1300303 12222599 DRD1 dopamine receptor D1 gene DOID:10763 hypertension ISO RGD:70828 D RGD:9068941 20200609 RGD PMID:10948075|REF_RGD_ID:1580869 12222599 DRD1 dopamine receptor D1 gene DOID:12849 autistic disorder ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18205172 12222599 DRD1 dopamine receptor D1 gene DOID:12858 Huntington's disease ISO RGD:10485 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (mouse) PMID:16905556|REF_RGD_ID:7248682 12222599 DRD1 dopamine receptor D1 gene DOID:12858 Huntington's disease ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:18815258|REF_RGD_ID:2302117 12222599 DRD1 dopamine receptor D1 gene DOID:12858 Huntington's disease ISO RGD:68472 D RGD:9068941 20200609 RGD PMID:12111832|REF_RGD_ID:5686414 12222599 DRD1 dopamine receptor D1 gene DOID:14330 Parkinson's disease ISO RGD:2518 D RGD:9068941 20200609 RGD protein:decreased expression:striatum (rat) PMID:16365282|REF_RGD_ID:7248455 12222599 DRD1 dopamine receptor D1 gene DOID:14330 Parkinson's disease ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8558425 12222599 DRD1 dopamine receptor D1 gene DOID:14330 Parkinson's disease treatment ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:23041629|REF_RGD_ID:7248595 12222599 DRD1 dopamine receptor D1 gene DOID:1596 depressive disorder ISO RGD:2518 D RGD:9068941 20200609 RGD mRNA:increased expression:caudate putamen (rat) PMID:17558292|REF_RGD_ID:2311588 12222599 DRD1 dopamine receptor D1 gene DOID:3227 tracheal stenosis ISO RGD:2518 D RGD:9068941 20200609 RGD mRNA:decreased expression:medial dorsal nucleus of thalamus (rat) PMID:21527662|REF_RGD_ID:7248613 12222599 DRD1 dopamine receptor D1 gene DOID:3312 bipolar disorder ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19153942 12222599 DRD1 dopamine receptor D1 gene DOID:4195 hyperglycemia ISO RGD:2518 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:decreased expression:renal cortex (rat) PMID:20339101|REF_RGD_ID:7248446 12222599 DRD1 dopamine receptor D1 gene DOID:480 movement disease ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6858777 12222599 DRD1 dopamine receptor D1 gene DOID:5199 ureteral obstruction ISO RGD:10485 D RGD:9068941 20200609 RGD protein:decreased expression:kidney (rat) PMID:14612384|REF_RGD_ID:7248457 12222599 DRD1 dopamine receptor D1 gene DOID:5199 ureteral obstruction ISO RGD:2518 D RGD:9068941 20200609 RGD protein:decreased expression:kidney (rat) PMID:14612384|REF_RGD_ID:7248457 12222599 DRD1 dopamine receptor D1 gene DOID:5419 schizophrenia ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 12222599 DRD1 dopamine receptor D1 gene DOID:630 genetic disease ISO RGD:70828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222599 DRD1 dopamine receptor D1 gene DOID:670 amphetamine abuse ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18363855|PMID:19444617 12222599 DRD1 dopamine receptor D1 gene DOID:783 end stage renal disease treatment ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:18402547|REF_RGD_ID:7248448 12222599 DRD1 dopamine receptor D1 gene DOID:9000972 Fever ISO RGD:2518 D RGD:9068941 20200609 RGD mRNA:increased expression:brain meninges, brain vasculature (rat) PMID:19582783|REF_RGD_ID:2314489 12222599 DRD1 dopamine receptor D1 gene DOID:9001542 Albuminuria ISO RGD:70828 D RGD:9068941 20200609 RGD DNA:polymorphism:5' utr:g.-94G>A rs5326 (human) PMID:17353515|REF_RGD_ID:7248452 12222599 DRD1 dopamine receptor D1 gene DOID:9002362 Hyperkinesis ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24418703 12222599 DRD1 dopamine receptor D1 gene DOID:9002457 Experimental Arthritis ISO RGD:2518 D RGD:9068941 20200609 RGD mRNA:increased expression:corpus striatum (rat) PMID:23762129|REF_RGD_ID:7248592 12222599 DRD1 dopamine receptor D1 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:23762129|REF_RGD_ID:7248592 12222599 DRD1 dopamine receptor D1 gene DOID:9003805 Catalepsy ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1365866|PMID:3283778|PMID:7845605 12222599 DRD1 dopamine receptor D1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15295029|PMID:16014726|PMID:16541082|PMID:20456009 12222599 DRD1 dopamine receptor D1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2518 D RGD:9068941 20200609 RGD protein:decreased activity:striatum (rat) PMID:1386820|REF_RGD_ID:2311600 12222599 DRD1 dopamine receptor D1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:20513244|REF_RGD_ID:7248621 12222599 DRD1 dopamine receptor D1 gene DOID:9005968 Neuralgia ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:22171983|REF_RGD_ID:6907447 12222599 DRD1 dopamine receptor D1 gene DOID:9006024 Hypotension ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12946566|PMID:1724532 12222599 DRD1 dopamine receptor D1 gene DOID:9007692 Insulin Resistance ISO RGD:2518 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased serine phosphorylation:renal proximal tubule PMID:15798088|REF_RGD_ID:2302119 12222599 DRD1 dopamine receptor D1 gene DOID:9007980 Sleep Deprivation ISO RGD:2518 D RGD:9068941 20200609 RGD protein:increased expression:hypothalamus PMID:25433096|REF_RGD_ID:13506946 12222599 DRD1 dopamine receptor D1 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10858612|PMID:16982285|PMID:19520364|PMID:7845605 12222599 DRD1 dopamine receptor D1 gene DOID:9008953 Binge-Eating Disorder ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:28821448|REF_RGD_ID:13506951 12222599 DRD1 dopamine receptor D1 gene DOID:9970 obesity ISO RGD:2518 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:renal proximal tubule, membrane (rat) PMID:15983225|REF_RGD_ID:7248449 12222599 DRD1 dopamine receptor D1 gene DOID:9970 obesity treatment ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:17191082|REF_RGD_ID:7248552 12222599 DRD1 dopamine receptor D1 gene DOID:9976 heroin dependence ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:28598964|REF_RGD_ID:13506959 12222608 OR51G1 olfactory receptor family 51 subfamily G member 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1345426 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12222608 OR51G1 olfactory receptor family 51 subfamily G member 1 gene DOID:630 genetic disease ISO RGD:1345426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222611 HEXD hexosaminidase D gene DOID:630 genetic disease ISO RGD:1602417 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222612 HAPSTR2 HUWE1 associated protein modifying stress responses 2 gene DOID:12849 autistic disorder ISO RGD:38668552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12222613 IL6R interleukin 6 receptor gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:736525 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21859801|REF_RGD_ID:10402826 12222613 IL6R interleukin 6 receptor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12222613 IL6R interleukin 6 receptor gene DOID:0050847 sleep apnea ISO RGD:736525 D RGD:9068941 20200609 RGD PMID:16983050|REF_RGD_ID:5128666 12222613 IL6R interleukin 6 receptor gene DOID:0060257 dyschromatosis symmetrica hereditaria ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities PMID:22974014|PMID:28492532 12222613 IL6R interleukin 6 receptor gene DOID:0111940 immunodeficiency 42 ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12222613 IL6R interleukin 6 receptor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12222613 IL6R interleukin 6 receptor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:736525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 12222613 IL6R interleukin 6 receptor gene DOID:10534 stomach cancer ISO RGD:736525 D RGD:9068941 20200609 RGD DNA:SNP: :rs2228145 (human) PMID:28442395|REF_RGD_ID:14975291 12222613 IL6R interleukin 6 receptor gene DOID:10652 Alzheimer's disease ISO RGD:736525 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:-530G>T, 48867A/>C (p.D358A, rs8192284) (human) PMID:20197062|REF_RGD_ID:10402810 12222613 IL6R interleukin 6 receptor gene DOID:10652 Alzheimer's disease ISO RGD:736525 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid, plasma PMID:12664314|REF_RGD_ID:10402808 12222613 IL6R interleukin 6 receptor gene DOID:10652 Alzheimer's disease no_association ISO RGD:736525 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-208G>A (rs4845617) (human) PMID:20197062|REF_RGD_ID:10402810 12222613 IL6R interleukin 6 receptor gene DOID:10763 hypertension severity ISO RGD:736525 D RGD:9068941 20200609 RGD Hypertension, Pregnancy-Induced;protein:increased expression:serum PMID:11778537|REF_RGD_ID:1625432 12222613 IL6R interleukin 6 receptor gene DOID:11446 sciatic neuropathy ISO RGD:2902 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion PMID:20519054|REF_RGD_ID:5128675 12222613 IL6R interleukin 6 receptor gene DOID:11476 osteoporosis ISO RGD:736525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15995586 12222613 IL6R interleukin 6 receptor gene DOID:11832 visual epilepsy ISO RGD:2902 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:12591161|REF_RGD_ID:1625441 12222613 IL6R interleukin 6 receptor gene DOID:12361 Graves' disease ISO RGD:736525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 12222613 IL6R interleukin 6 receptor gene DOID:12361 Graves' disease disease_progression ISO RGD:736525 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:12818091|REF_RGD_ID:7829750 12222613 IL6R interleukin 6 receptor gene DOID:12858 Huntington's disease treatment ISO RGD:736525 D RGD:9068941 20200609 RGD PMID:11860469|REF_RGD_ID:10402809 12222613 IL6R interleukin 6 receptor gene DOID:13141 uveitis ISO RGD:736525 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor: PMID:10420202|REF_RGD_ID:7829723 12222613 IL6R interleukin 6 receptor gene DOID:13207 proliferative diabetic retinopathy ISO RGD:736525 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17401618|REF_RGD_ID:10402814 12222613 IL6R interleukin 6 receptor gene DOID:1540 parathyroid carcinoma ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12222613 IL6R interleukin 6 receptor gene DOID:1596 depressive disorder ISO RGD:2902 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:23589140|REF_RGD_ID:10402829 12222613 IL6R interleukin 6 receptor gene DOID:2518 orchitis ISO RGD:2902 D RGD:9068941 20200609 RGD protein:increased expression:male germ cell PMID:16458979|REF_RGD_ID:1625434 12222613 IL6R interleukin 6 receptor gene DOID:2841 asthma ISO RGD:10803 D RGD:9068941 20200609 RGD PMID:17496315|PMID:21115736|REF_RGD_ID:5128630|REF_RGD_ID:5128662 12222613 IL6R interleukin 6 receptor gene DOID:2841 asthma ISO RGD:736525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29902480 12222613 IL6R interleukin 6 receptor gene DOID:2957 pulmonary tuberculosis ISO RGD:736525 D RGD:9068941 20200609 RGD protein:decreased expression:T cell PMID:20019339|REF_RGD_ID:5128632 12222613 IL6R interleukin 6 receptor gene DOID:3525 middle cerebral artery infarction ISO RGD:10803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21940958 12222613 IL6R interleukin 6 receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:736525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22552503 12222613 IL6R interleukin 6 receptor gene DOID:4450 renal cell carcinoma ISO RGD:736525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7834629 12222613 IL6R interleukin 6 receptor gene DOID:5419 schizophrenia ISO RGD:736525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8067274 12222613 IL6R interleukin 6 receptor gene DOID:5812 MHC class II deficiency ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12222613 IL6R interleukin 6 receptor gene DOID:5844 myocardial infarction ISO RGD:2902 D RGD:9068941 20200609 RGD PMID:12123772|REF_RGD_ID:1625444 12222613 IL6R interleukin 6 receptor gene DOID:6000 congestive heart failure ISO RGD:2902 D RGD:9068941 20200609 RGD protein:increased expression:paraventricular hypothalamic nucleus PMID:17095650|REF_RGD_ID:1625433 12222613 IL6R interleukin 6 receptor gene DOID:630 genetic disease ISO RGD:736525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12222613 IL6R interleukin 6 receptor gene DOID:7148 rheumatoid arthritis ISO RGD:736525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16729287|PMID:23143596 12222613 IL6R interleukin 6 receptor gene DOID:9000217 Stomach Neoplasms ISO RGD:736525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12222613 IL6R interleukin 6 receptor gene DOID:9000230 Hyper-IgE Recurrent Infection Syndrome 5 ISO RGD:736525 D RGD:7240710 20200812 OMIM 12222613 IL6R interleukin 6 receptor gene DOID:9000230 Hyper-IgE Recurrent Infection Syndrome 5 ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 5, autosomal recessive PMID:25741868|PMID:28492532|PMID:31235509|PMID:8467812 12222613 IL6R interleukin 6 receptor gene DOID:9000972 Fever ISO RGD:10803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25429137 12222613 IL6R interleukin 6 receptor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2902 D RGD:9068941 20200609 RGD PMID:21492407|REF_RGD_ID:10402827 12222613 IL6R interleukin 6 receptor gene DOID:9002211 Hyperalgesia ISO RGD:2902 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion PMID:23953943|REF_RGD_ID:10402830 12222613 IL6R interleukin 6 receptor gene DOID:9002765 Systemic Juvenile Rheumatoid Arthritis treatment ISO RGD:736525 D RGD:9068941 20200609 RGD PMID:18358927|REF_RGD_ID:10402823 12222613 IL6R interleukin 6 receptor gene DOID:9004009 Reperfusion Injury ISO RGD:10803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21940958 12222613 IL6R interleukin 6 receptor gene DOID:9004649 Heat Stroke ISO RGD:10803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 12222613 IL6R interleukin 6 receptor gene DOID:9004713 Acute-Phase Reaction ISO RGD:2902 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:2174054|REF_RGD_ID:729416 12222613 IL6R interleukin 6 receptor gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:736525 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.D358A PMID:16817825|REF_RGD_ID:1625430 12222613 IL6R interleukin 6 receptor gene DOID:9007355 Hashimoto Disease ISO RGD:736525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 12222613 IL6R interleukin 6 receptor gene DOID:9007692 Insulin Resistance ISO RGD:736525 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:14962155|REF_RGD_ID:1625431 12222613 IL6R interleukin 6 receptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:736525 D RGD:9068941 20200609 RGD PMID:16056242|REF_RGD_ID:1625435 12222613 IL6R interleukin 6 receptor gene DOID:9008523 Subretinal Fibrosis treatment ISO RGD:10803 D RGD:9068941 20200609 RGD PMID:24790857|REF_RGD_ID:10402815 12222613 IL6R interleukin 6 receptor gene DOID:9008680 Respiratory Tract Infections ISO RGD:736525 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, exon:-183G>A (human) PMID:20951753|REF_RGD_ID:5128631 12222613 IL6R interleukin 6 receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12222613 IL6R interleukin 6 receptor gene DOID:9970 obesity ISO RGD:736525 D RGD:9068941 20200609 RGD DNA:SNP, haplotypes:promoter:-208G>A (rs4845617) (human) PMID:17984249|REF_RGD_ID:10402807 12222613 IL6R interleukin 6 receptor gene DOID:9970 obesity ISO RGD:736525 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17434052|REF_RGD_ID:1625429 12222613 IL6R interleukin 6 receptor gene DOID:9970 obesity susceptibility ISO RGD:736525 D RGD:9068941 20200609 RGD DNA:duplication PMID:12917504|REF_RGD_ID:1625428 12222613 IL6R interleukin 6 receptor gene DOID:9970 obesity susceptibility ISO RGD:736525 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.D358A PMID:16817825|REF_RGD_ID:1625430 12222665 NANOGNB NANOG neighbor homeobox gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:2881521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12222665 NANOGNB NANOG neighbor homeobox gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:2881521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12222665 NANOGNB NANOG neighbor homeobox gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:2881521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12222665 NANOGNB NANOG neighbor homeobox gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:2881521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12222665 NANOGNB NANOG neighbor homeobox gene DOID:0111621 Temtamy syndrome ISO RGD:2881521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12222665 NANOGNB NANOG neighbor homeobox gene DOID:630 genetic disease ISO RGD:2881521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222665 NANOGNB NANOG neighbor homeobox gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:2881521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12222667 MIR145 microRNA mir-145 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1353686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12222667 MIR145 microRNA mir-145 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353686 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12222667 MIR145 microRNA mir-145 gene DOID:0080685 aortic dissection ISO RGD:1353686 D RGD:9068941 20220929 RGD miRNA:decreased expression:aorta (human) PMID:28167124|PMID:30787994|REF_RGD_ID:155260287|REF_RGD_ID:155260309 12222667 MIR145 microRNA mir-145 gene DOID:0080685 aortic dissection severity ISO RGD:1353686 D RGD:9068941 20220929 RGD miRNA:decreased expression:aorta (human) PMID:30900421|REF_RGD_ID:155260292 12222667 MIR145 microRNA mir-145 gene DOID:10763 hypertension ISO RGD:1353686 D RGD:9068941 20220929 RGD miRNA:increased expression:artery wall (human) PMID:23339529|REF_RGD_ID:155260305 12222667 MIR145 microRNA mir-145 gene DOID:10941 intracranial aneurysm ISO RGD:1353686 D RGD:9068941 20230202 RGD RNA:decreased expression:serum PMID:30201338|REF_RGD_ID:155883158 12222667 MIR145 microRNA mir-145 gene DOID:11054 urinary bladder cancer ISO RGD:1353686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 12222667 MIR145 microRNA mir-145 gene DOID:13608 biliary atresia ISO RGD:1353686 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver (human) PMID:28902846|REF_RGD_ID:15039396 12222667 MIR145 microRNA mir-145 gene DOID:13608 biliary atresia ISO RGD:1608328 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver (human) PMID:28902846|REF_RGD_ID:15039396 12222667 MIR145 microRNA mir-145 gene DOID:13608 biliary atresia ISO RGD:2325565 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver (human) PMID:28902846|REF_RGD_ID:15039396 12222667 MIR145 microRNA mir-145 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1353686 D RGD:9068941 20220929 RGD RNA:decreased expression:thoracic aorta (human) PMID:30989723|REF_RGD_ID:155260298 12222667 MIR145 microRNA mir-145 gene DOID:1612 breast cancer ISO RGD:1353686 D RGD:9068941 20220722 RGD RNA:increased expression:peripheral blood mononuclear cell (human) PMID:32104069|REF_RGD_ID:153297766 12222667 MIR145 microRNA mir-145 gene DOID:1686 glaucoma ameliorates ISO RGD:2325565 D RGD:9068941 20220929 RGD PMID:34291866|REF_RGD_ID:155260301 12222667 MIR145 microRNA mir-145 gene DOID:1936 atherosclerosis ameliorates ISO RGD:733604 D RGD:9068941 20220929 RGD PMID:29710501|REF_RGD_ID:155260303 12222667 MIR145 microRNA mir-145 gene DOID:219 colon cancer ISO RGD:1353686 D RGD:9068941 20220722 RGD RNA:increased expression:peripheral blood mononuclear cell (human) PMID:32104069|REF_RGD_ID:153297766 12222667 MIR145 microRNA mir-145 gene DOID:2671 transitional cell carcinoma ISO RGD:1353686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 12222667 MIR145 microRNA mir-145 gene DOID:3393 coronary artery disease disease_progression ISO RGD:1353686 D RGD:9068941 20220929 RGD miRNA:decreased expression:artery wall (human) PMID:25938589|REF_RGD_ID:11054026 12222667 MIR145 microRNA mir-145 gene DOID:3526 cerebral infarction ISO RGD:1353686 D RGD:9068941 20220929 RGD miRNA:increased expression:blood (human) PMID:22370881|REF_RGD_ID:155260291 12222667 MIR145 microRNA mir-145 gene DOID:3526 cerebral infarction ameliorates ISO RGD:1608328 D RGD:9068941 20220929 RGD PMID:26722607|REF_RGD_ID:155260295 12222667 MIR145 microRNA mir-145 gene DOID:3627 aortic aneurysm disease_progression ISO RGD:1353686 D RGD:9068941 20220929 RGD miRNA:increased expression:aorta (human) PMID:25465469|REF_RGD_ID:155260284 12222667 MIR145 microRNA mir-145 gene DOID:3770 pulmonary fibrosis ISO RGD:1608328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 12222667 MIR145 microRNA mir-145 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1353686 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20097187 12222667 MIR145 microRNA mir-145 gene DOID:4001 ovarian carcinoma ISO RGD:1353686 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:30365097 12222667 MIR145 microRNA mir-145 gene DOID:5082 liver cirrhosis ISO RGD:1353686 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver (human) PMID:27289031|REF_RGD_ID:15039397 12222667 MIR145 microRNA mir-145 gene DOID:5082 liver cirrhosis ISO RGD:1608328 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver (human) PMID:27289031|REF_RGD_ID:15039397 12222667 MIR145 microRNA mir-145 gene DOID:5082 liver cirrhosis ISO RGD:2325565 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver (human) PMID:27289031|REF_RGD_ID:15039397 12222667 MIR145 microRNA mir-145 gene DOID:5844 myocardial infarction ISO RGD:1353686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29956747 12222667 MIR145 microRNA mir-145 gene DOID:5844 myocardial infarction ameliorates ISO RGD:2325565 D RGD:9068941 20220929 RGD PMID:32890431|REF_RGD_ID:155260294 12222667 MIR145 microRNA mir-145 gene DOID:5844 myocardial infarction treatment ISO RGD:1608328 D RGD:9068941 20220929 RGD PMID:30146700|REF_RGD_ID:155260296 12222667 MIR145 microRNA mir-145 gene DOID:6000 congestive heart failure ISO RGD:1353686 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12222667 MIR145 microRNA mir-145 gene DOID:6000 congestive heart failure disease_progression ISO RGD:2325565 D RGD:9068941 20220929 RGD associated with acute myocardial infarction; miRNA:decreased expression:blood plasma (rat) PMID:28051023|REF_RGD_ID:155260283 12222667 MIR145 microRNA mir-145 gene DOID:6000 congestive heart failure treatment ISO RGD:2325565 D RGD:9068941 20220929 RGD PMID:32554856|REF_RGD_ID:155260293 12222667 MIR145 microRNA mir-145 gene DOID:6432 pulmonary hypertension ISO RGD:2325565 D RGD:9068941 20220922 RGD mRNA:decreased expression:pulmonary artery (rat) PMID:35369850|REF_RGD_ID:155230820 12222667 MIR145 microRNA mir-145 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1353686 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver (human) PMID:30572504|REF_RGD_ID:15039395 12222667 MIR145 microRNA mir-145 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1608328 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver (human) PMID:30572504|REF_RGD_ID:15039395 12222667 MIR145 microRNA mir-145 gene DOID:684 hepatocellular carcinoma severity ISO RGD:2325565 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver (human) PMID:30572504|REF_RGD_ID:15039395 12222667 MIR145 microRNA mir-145 gene DOID:707 B-cell lymphoma ISO RGD:1353686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892514 12222667 MIR145 microRNA mir-145 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1353686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21248297 12222667 MIR145 microRNA mir-145 gene DOID:9000146 Plaque, Atherosclerotic disease_progression ISO RGD:1608328 D RGD:9068941 20220929 RGD miRNA:decreased expression:artery wall (human) PMID:30456333|REF_RGD_ID:155260307 12222667 MIR145 microRNA mir-145 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1353686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24447120 12222667 MIR145 microRNA mir-145 gene DOID:9000918 Disease Progression ISO RGD:1353686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 12222667 MIR145 microRNA mir-145 gene DOID:9001542 Albuminuria ISO RGD:1353686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24223694 12222667 MIR145 microRNA mir-145 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1353686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12222667 MIR145 microRNA mir-145 gene DOID:9001686 Acute Coronary Syndrome disease_progression ISO RGD:1353686 D RGD:9068941 20220922 RGD RNA:decreased expression:blood serum (human) PMID:32178736|REF_RGD_ID:155230830 12222667 MIR145 microRNA mir-145 gene DOID:9001686 Acute Coronary Syndrome treatment ISO RGD:2325565 D RGD:9068941 20220922 RGD PMID:32178736|REF_RGD_ID:155230830 12222667 MIR145 microRNA mir-145 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2325565 D RGD:9068941 20220922 RGD mRNA:decreased expression:small intestine (rat) PMID:23166305|REF_RGD_ID:155230822 12222667 MIR145 microRNA mir-145 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1353686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24223694 12222667 MIR145 microRNA mir-145 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1353686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892514 12222667 MIR145 microRNA mir-145 gene DOID:9003936 Cardiomegaly ISO RGD:1608328 D RGD:9068941 20220929 RGD miRNA:increased expression:blood serum (human) PMID:35139769|REF_RGD_ID:155260312 12222667 MIR145 microRNA mir-145 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1608328 D RGD:9068941 20220929 RGD PMID:35139769|REF_RGD_ID:155260312 12222667 MIR145 microRNA mir-145 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12222667 MIR145 microRNA mir-145 gene DOID:9006182 Carotid Artery Injuries ISO RGD:2325565 D RGD:9068941 20220929 RGD miRNA:altered expression:wall of blood vessel (rat) PMID:19542014|REF_RGD_ID:13210556 12222667 MIR145 microRNA mir-145 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353686 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12222667 MIR145 microRNA mir-145 gene DOID:9007102 Myocardial Ischemia ISO RGD:1608328 D RGD:9068941 20220929 RGD miRNA:decreased expression:myocardium (mouse) PMID:23028672|REF_RGD_ID:10047368 12222667 MIR145 microRNA mir-145 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2325565 D RGD:9068941 20220923 RGD PMID:31583047|REF_RGD_ID:155230831 12222667 MIR145 microRNA mir-145 gene DOID:9007964 Arsenic Poisoning ISO RGD:1353686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29705342 12222667 MIR145 microRNA mir-145 gene DOID:9008939 Breast Neoplasms ISO RGD:1353686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21463514 12222667 MIR145 microRNA mir-145 gene DOID:9206 Barrett's esophagus ISO RGD:1353686 D RGD:9068941 20220825 RGD miRNA:increased expression:esophagus (human) PMID:29906417|REF_RGD_ID:153344526 12222667 MIR145 microRNA mir-145 gene DOID:9256 colorectal cancer ISO RGD:1353686 D RGD:9068941 20220728 RGD miRNA:decreased expression:colorectal mucosa (human) PMID:19242066|REF_RGD_ID:153297808 12222667 MIR145 microRNA mir-145 gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:1353686 D RGD:9068941 20220630 RGD RNA:decreased expression:blood serum, colorectum (human) PMID:29552756|REF_RGD_ID:152995508 12222667 MIR145 microRNA mir-145 gene DOID:9351 diabetes mellitus ISO RGD:2325565 D RGD:9068941 20220929 RGD miRNA:decreased expression:blood plasma (rat) PMID:28051023|REF_RGD_ID:155260283 12222680 SPN sialophorin gene DOID:0060041 autism spectrum disorder ISO RGD:737577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12222680 SPN sialophorin gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:737577 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12222680 SPN sialophorin gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:737577 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12222680 SPN sialophorin gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:737577 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12222680 SPN sialophorin gene DOID:12849 autistic disorder ISO RGD:737577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12222680 SPN sialophorin gene DOID:182 calcinosis ISO RGD:737577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12222680 SPN sialophorin gene DOID:1882 atrial heart septal defect ISO RGD:737577 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12222680 SPN sialophorin gene DOID:4079 heart valve disease ISO RGD:737577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12222680 SPN sialophorin gene DOID:5419 schizophrenia ISO RGD:737577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12222680 SPN sialophorin gene DOID:630 genetic disease ISO RGD:737577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222680 SPN sialophorin gene DOID:9002457 Experimental Arthritis ISO RGD:3750 D RGD:9068941 20200609 RGD associated with Staphylococcal Infections PMID:7927732|REF_RGD_ID:2303983 12222680 SPN sialophorin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12222680 SPN sialophorin gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:737577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12222706 RHOA ras homolog family member A gene DOID:0050665 fetal alcohol syndrome ISO RGD:619921 D RGD:9068941 20200609 RGD protein:increased activation:neuron, cerebellum PMID:17109064|REF_RGD_ID:2298867 12222706 RHOA ras homolog family member A gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413734|PMID:24413737 12222706 RHOA ras homolog family member A gene DOID:0060001 withdrawal disorder ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 12222706 RHOA ras homolog family member A gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:26619011 12222706 RHOA ras homolog family member A gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 12222706 RHOA ras homolog family member A gene DOID:0060852 Pierson syndrome ISO RGD:1347797 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 12222706 RHOA ras homolog family member A gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24584070 12222706 RHOA ras homolog family member A gene DOID:10763 hypertension ISO RGD:619921 D RGD:9068941 20200609 RGD protein:altered localization:mesenteric artery PMID:17620967|REF_RGD_ID:1642801 12222706 RHOA ras homolog family member A gene DOID:1091 tooth disease ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31570889 12222706 RHOA ras homolog family member A gene DOID:10976 membranous glomerulonephritis ISO RGD:619921 D RGD:9068941 20200609 RGD protein:increased activity:epithelial cell PMID:17376765|REF_RGD_ID:1642963 12222706 RHOA ras homolog family member A gene DOID:11054 urinary bladder cancer ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19896475 12222706 RHOA ras homolog family member A gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1347797 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:12855641|REF_RGD_ID:2298872 12222706 RHOA ras homolog family member A gene DOID:1107 esophageal carcinoma ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:26619011 12222706 RHOA ras homolog family member A gene DOID:1612 breast cancer disease_progression ISO RGD:1347797 D RGD:9068941 20200609 RGD PMID:18575772|REF_RGD_ID:2298866 12222706 RHOA ras homolog family member A gene DOID:1612 breast cancer severity ISO RGD:1347797 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:12237774|REF_RGD_ID:2298874 12222706 RHOA ras homolog family member A gene DOID:2121 ectodermal dysplasia ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31570889 12222706 RHOA ras homolog family member A gene DOID:2377 multiple sclerosis ISO RGD:1347797 D RGD:9068941 20200609 RGD protein:increased expression:microglial cell, brain PMID:17983427|REF_RGD_ID:2298887 12222706 RHOA ras homolog family member A gene DOID:2841 asthma ISO RGD:619921 D RGD:9068941 20200609 RGD PMID:18391481|REF_RGD_ID:2298885 12222706 RHOA ras homolog family member A gene DOID:305 carcinoma ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24816255 12222706 RHOA ras homolog family member A gene DOID:3459 breast carcinoma ISO RGD:1347797 D RGD:9068941 20200609 RGD PMID:17007568|REF_RGD_ID:2298868 12222706 RHOA ras homolog family member A gene DOID:3717 gastric adenocarcinoma ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:26619011 12222706 RHOA ras homolog family member A gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25783350 12222706 RHOA ras homolog family member A gene DOID:3910 lung adenocarcinoma ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:26619011 12222706 RHOA ras homolog family member A gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:1347797 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary PMID:12808121|REF_RGD_ID:2298873 12222706 RHOA ras homolog family member A gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:26619011 12222706 RHOA ras homolog family member A gene DOID:576 proteinuria ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19955829 12222706 RHOA ras homolog family member A gene DOID:630 genetic disease ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222706 RHOA ras homolog family member A gene DOID:6432 pulmonary hypertension ISO RGD:619921 D RGD:9068941 20200609 RGD protein:altered localization:membrane, artery, lung PMID:18091588|REF_RGD_ID:2298877 12222706 RHOA ras homolog family member A gene DOID:6432 pulmonary hypertension ISO RGD:619921 D RGD:9068941 20200609 RGD protein:altered localization:pulmonary artery PMID:16322374|REF_RGD_ID:1642819 12222706 RHOA ras homolog family member A gene DOID:9000039 Spinal Cord Injuries ISO RGD:619921 D RGD:9068941 20230401 RGD mRNA,protein:increased expression:spinal cord: PMID:27893610|REF_RGD_ID:243048440 12222706 RHOA ras homolog family member A gene DOID:9000081 Lymphatic Metastasis ISO RGD:1347797 D RGD:9068941 20200609 RGD associated with Bladder Neoplasms;protein:increased expression:lymph node PMID:12855641|REF_RGD_ID:2298872 12222706 RHOA ras homolog family member A gene DOID:9000081 Lymphatic Metastasis ISO RGD:1347797 D RGD:9068941 20200609 RGD associated with colorectal cancer PMID:17597401|REF_RGD_ID:13432052 12222706 RHOA ras homolog family member A gene DOID:9000217 Stomach Neoplasms ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15448013|PMID:24816253|PMID:24816255 12222706 RHOA ras homolog family member A gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1347797 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:15269155|REF_RGD_ID:2298869 12222706 RHOA ras homolog family member A gene DOID:9000457 Germ Cell and Embryonal Neoplasms disease_progression ISO RGD:1347797 D RGD:9068941 20200609 RGD mRNA:increased expression:testis PMID:11872041|REF_RGD_ID:2298875 12222706 RHOA ras homolog family member A gene DOID:9000784 Fibrosis ISO RGD:619921 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased activation:heart PMID:17184496|REF_RGD_ID:1642810 12222706 RHOA ras homolog family member A gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347797 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms PMID:12808121|REF_RGD_ID:2298873 12222706 RHOA ras homolog family member A gene DOID:9000998 Brain Injuries ISO RGD:619921 D RGD:9068941 20200609 RGD protein:increased expression:microglial cell, brain PMID:17929039|REF_RGD_ID:2298888 12222706 RHOA ras homolog family member A gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12222706 RHOA ras homolog family member A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:619921 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:16492715|PMID:17596891|REF_RGD_ID:1642803|REF_RGD_ID:2298879 12222706 RHOA ras homolog family member A gene DOID:9001734 Neurocutaneous Syndromes ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31570889 12222706 RHOA ras homolog family member A gene DOID:9002704 Leukoencephalopathies ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31570889 12222706 RHOA ras homolog family member A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis severity ISO RGD:619921 D RGD:9068941 20200609 RGD protein:increased expression:microglial cell, brain PMID:17983427|REF_RGD_ID:2298887 12222706 RHOA ras homolog family member A gene DOID:9003047 ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES ISO RGD:1347797 D RGD:7240710 20210818 OMIM 12222706 RHOA ras homolog family member A gene DOID:9003047 ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES, SOMATIC MOSAIC | ClinVar Annotator: match by term: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies PMID:25741868|PMID:31570889 12222706 RHOA ras homolog family member A gene DOID:9003936 Cardiomegaly ISO RGD:619921 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased activation:heart PMID:17184496|REF_RGD_ID:1642810 12222706 RHOA ras homolog family member A gene DOID:9003936 Cardiomegaly ISO RGD:731060 D RGD:9068941 20200609 RGD protein:increased expression:cardiac muscle cell PMID:17316608|REF_RGD_ID:1642807 12222706 RHOA ras homolog family member A gene DOID:9004253 Immunoblastic Lymphadenopathy ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413737|PMID:24584070 12222706 RHOA ras homolog family member A gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19896475 12222706 RHOA ras homolog family member A gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:619921 D RGD:9068941 20200609 RGD PMID:17316608|REF_RGD_ID:1642807 12222706 RHOA ras homolog family member A gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:1347797 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:renal/urinary system PMID:12581011|REF_RGD_ID:1547861 12222706 RHOA ras homolog family member A gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 12222706 RHOA ras homolog family member A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619921 D RGD:9068941 20200609 RGD PMID:17589825|REF_RGD_ID:1642825 12222706 RHOA ras homolog family member A gene DOID:9005660 Hypopigmentation ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31570889 12222706 RHOA ras homolog family member A gene DOID:9006205 Animal Disease Models ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25783350 12222706 RHOA ras homolog family member A gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:619921 D RGD:9068941 20200609 RGD protein:increased expression:spinal ganglion, macrophage, T cell PMID:17367505|REF_RGD_ID:1642966 12222706 RHOA ras homolog family member A gene DOID:9007828 Abnormalities, Drug-Induced ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25783350 12222706 RHOA ras homolog family member A gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:619921 D RGD:9068941 20200609 RGD protein:altered localization:heart PMID:17322412|REF_RGD_ID:1642967 12222706 RHOA ras homolog family member A gene DOID:9008091 Optic Nerve Injuries ISO RGD:619921 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:retina PMID:17534117|REF_RGD_ID:1642826 12222706 RHOA ras homolog family member A gene DOID:9008443 Colorectal Neoplasms ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:26619011 12222706 RHOA ras homolog family member A gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31570889 12222706 RHOA ras homolog family member A gene DOID:9008939 Breast Neoplasms ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:26619011 12222706 RHOA ras homolog family member A gene DOID:9256 colorectal cancer ISO RGD:1347797 D RGD:9068941 20200609 RGD PMID:17597401|REF_RGD_ID:13432052 12222706 RHOA ras homolog family member A gene DOID:9268 glycine encephalopathy ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:28492532 12222706 RHOA ras homolog family member A gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:619921 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 12222706 RHOA ras homolog family member A gene DOID:987 alopecia ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31570889 12222706 RHOA ras homolog family member A gene DOID:9970 obesity ISO RGD:619921 D RGD:9068941 20200609 RGD protein:increased expression:membrane, aorta, skeletal muscle PMID:16267124|REF_RGD_ID:2298881 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:0050156 idiopathic pulmonary fibrosis susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:21373184|REF_RGD_ID:5147566 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:0050168 autoimmune polyendocrine syndrome type 2 susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:HLA-DRB1*03, HLA-DRB1*04, HLA-DRB1*15 (human) PMID:21388354|REF_RGD_ID:5147565 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:0050553 JMP syndrome ISO RGD:1349823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:0050784 primary progressive multiple sclerosis severity ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype: :HLA-DR2, HLA-DRB1*1501 (human) PMID:19616314|REF_RGD_ID:5147610 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:0050827 rheumatic heart disease ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:17578051|REF_RGD_ID:5147630 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:0050827 rheumatic heart disease susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:HLA-DRB1*13 (human) PMID:16426242|REF_RGD_ID:5147643 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1349823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22096508 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:0060500 drug allergy ISO RGD:1349823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:0060532 latex allergy ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:15536412|REF_RGD_ID:5147656 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:0080162 lupus nephritis susceptibility ISO RGD:1349823 D RGD:9068941 20201225 RGD DNA:polymorphisms:cds:HLA-DRB1*1501 (human) PMID:12651073|REF_RGD_ID:40902999 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:0080600 COVID-19 ISO RGD:1349823 D RGD:9068941 20200709 RGD mRNA:decreased expression:memory B cells (human) PMID:32377375|REF_RGD_ID:32716422 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:0080822 aspirin-induced respiratory disease susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD PMID:25975240|REF_RGD_ID:11074090 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:10003 sensorineural hearing loss susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism: :DRB1*0301(human) PMID:8712634|REF_RGD_ID:7365101 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:1024 leprosy ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:19698125|REF_RGD_ID:5147788 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:1024 leprosy susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:20003324|REF_RGD_ID:5147585 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:10283 prostate cancer susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD PMID:10672954|REF_RGD_ID:2314702 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:10322 berylliosis ISO RGD:1349823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16272364|PMID:17927685 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:104 bacterial infectious disease onset ISO RGD:1349823 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:polymorphism (human) PMID:16987934|REF_RGD_ID:5147635 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:10608 celiac disease ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:12404952|REF_RGD_ID:5147803 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:10652 Alzheimer's disease ISO RGD:1349823 D RGD:9068941 20200609 RGD PMID:21473952|REF_RGD_ID:5147563 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:10976 membranous glomerulonephritis ISO RGD:1349823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11436868 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:10983 Alport syndrome susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism: :HLA-DRB1*16(human) PMID:15182324|REF_RGD_ID:7365078 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:11166 papillomavirus infectious disease susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD PMID:12918070|PMID:12941545|PMID:19272325|REF_RGD_ID:2306228|REF_RGD_ID:2314693|REF_RGD_ID:2314694 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome susceptibility ISO RGD:1349823 D RGD:9068941 20201203 RGD DNA:polymorphism:cds:HLA-DRB1*0401-0411, HLA-DRB1*1001, HLA-DRB1*1101-1105, HLA-DRB1*1201-1202 and HLA-DRB1*1305 (human) PMID:25169964|REF_RGD_ID:40818303 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:11335 sarcoidosis ISO RGD:1349823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14508706 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:11335 sarcoidosis susceptibility ISO RGD:1349823 D RGD:7240710 20190502 OMIM 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:11656 cicatricial pemphigoid susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism: :DRB1*1101, DRB1*0701(human) PMID:9683867|REF_RGD_ID:7365096 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:11656 cicatricial pemphigoid susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism: :HLA-DRB1*04(human) PMID:8052655|REF_RGD_ID:7365103 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:11713 diabetic angiopathy susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus Type 1;DNA:polymorphism: :HLA-DRB1*03:01(human) PMID:23376458|REF_RGD_ID:7365114 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:1184 nephrotic syndrome ISO RGD:1349823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11095018|PMID:6420562 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:12029 sympathetic ophthalmia susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism: :HLA-DRB1*04(human) PMID:9062965|REF_RGD_ID:7365100 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:12029 sympathetic ophthalmia susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism: :HLA-DRB1*0404(human) PMID:11222331|REF_RGD_ID:7365091 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:1205 allergic disease ISO RGD:1349823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8725357 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:1205 allergic disease ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:10689122|PMID:16112029|REF_RGD_ID:5147814|REF_RGD_ID:5147826 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:1205 allergic disease susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:15853900|REF_RGD_ID:5147651 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:1210 optic neuritis ISO RGD:1349823 D RGD:9068941 20200609 RGD associated with Encephalomyelitis, Autoimmune, Experimental; PMID:22167100|REF_RGD_ID:7365050 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:12140 Chagas disease susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms:exon (human) PMID:19811437|REF_RGD_ID:5147589 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:12148 alveolar echinococcosis ISO RGD:1349823 D RGD:9068941 20200723 RGD DNA:polymorphisms: :HLA-DRB1*03, DRB1*11(human) PMID:9756400|REF_RGD_ID:36174003 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:12297 Vogt-Koyanagi-Harada disease ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:15603876|REF_RGD_ID:5147653 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:12297 Vogt-Koyanagi-Harada disease ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:10527396|REF_RGD_ID:5147857 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:12297 Vogt-Koyanagi-Harada disease susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism: :HLA-DRB1*0405(human) PMID:9548078|REF_RGD_ID:7365099 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:12297 Vogt-Koyanagi-Harada disease susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms: :HLA-DRB1*0405, HLA-DRB1*0410(human) PMID:20216938|REF_RGD_ID:7365067 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:12306 vitiligo ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:16420246|REF_RGD_ID:5147644 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:12306 vitiligo susceptibility ISO RGD:1349823 D RGD:9068941 20200723 RGD DNA:polymorphism: : HLA-DRB1*0701(human) PMID:9653015|REF_RGD_ID:36174006 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:12361 Graves' disease susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism: :HLA-DRB1*03(human) PMID:15219383|REF_RGD_ID:7365073 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:12361 Graves' disease susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism: :HLA-DRB1*0301(human) PMID:11263477|REF_RGD_ID:7365089 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:12361 Graves' disease susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism: :HLA-DRB1*12:02, HLA-DRB1*16:02(human) PMID:21307958|REF_RGD_ID:7365065 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:1245 vulva cancer susceptibility ISO RGD:1349823 D RGD:9068941 20200723 RGD associated with Papillomavirus Infections;DNA:polymorphisms: :HLA-DRB1*11,DRB1*01,DRB1*13(human) PMID:12543794|REF_RGD_ID:2314696 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:12662 paracoccidioidomycosis severity ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype:cds:HLA-DRB1*11 (human) PMID:17325942|REF_RGD_ID:5147631 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:12849 autistic disorder ISO RGD:1349823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8765331 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:12849 autistic disorder ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:21716163|REF_RGD_ID:5147556 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:12859 choreatic disease ISO RGD:1349823 D RGD:9068941 20200609 RGD associated with Rheumatic Fever;DNA:polymorphism (human) PMID:17559688|REF_RGD_ID:5147792 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:12894 Sjogren's syndrome susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:HLA-DRB1*0301 (human) PMID:11555411|REF_RGD_ID:5147809 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:13025 retinopathy of prematurity susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism: :HLA-DRB1*09, HLA-DRB1*14(human) PMID:24033735|REF_RGD_ID:7365093 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:13141 uveitis susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD associated Arthritis, Juvenile;DNA:polymorphism: :HLA-DRB1*13(human) PMID:16495319|REF_RGD_ID:7365070 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:13141 uveitis susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD associated with Inflammatory Bowel Diseases;DNA:polymorphism: :HLA-DRB1*0103(human) PMID:12198697|REF_RGD_ID:7364926 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:13166 allergic bronchopulmonary aspergillosis susceptibility ISO RGD:1349823 D RGD:9068941 20200717 RGD associated with cystic fibrosis; DNA:polymorphisms: : PMID:23278646|REF_RGD_ID:36049760 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:13241 Behcet's disease susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism: :DRB1*0802(human) PMID:1358857|REF_RGD_ID:7365104 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:13258 typhoid fever ISO RGD:1349823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25383971 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:13258 typhoid fever susceptibility ISO RGD:1349823 D RGD:9068941 20200716 RGD DNA:polymorphisms:: PMID:11120931|REF_RGD_ID:36049756 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:13258 typhoid fever susceptibility ISO RGD:1349823 D RGD:9068941 20200730 RGD DNA:polymorphism: :HLA-DRB1*04:05, rs7765379(human) PMID:25383971|REF_RGD_ID:36174025 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:13375 temporal arteritis ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:16846526|REF_RGD_ID:5147974 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:13375 temporal arteritis onset ISO RGD:1349823 D RGD:9068941 20200609 RGD associated with Polymyalgia Rheumatica;DNA:polymorphisms (human) PMID:20064872|REF_RGD_ID:5147583 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:1340 pure red-cell aplasia susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:cds:HLA-DRB1*09 (human) PMID:18689790|REF_RGD_ID:11041748 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:13404 uveoparotid fever susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:21565911|REF_RGD_ID:5147562 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:13406 pulmonary sarcoidosis severity ISO RGD:1349823 D RGD:9068941 20201203 RGD DNA:polymorphism:cds:DRB1*03 (human) PMID:15881283|REF_RGD_ID:40818305 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:13406 pulmonary sarcoidosis susceptibility ISO RGD:1349823 D RGD:9068941 20201203 RGD DNA:polymorphism:cds:DRB1*15 (human) PMID:15881283|REF_RGD_ID:40818305 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:13774 Addison's disease ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:19858318|REF_RGD_ID:5147588 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:13774 Addison's disease ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:21816777|REF_RGD_ID:5147553 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:1389 polyneuropathy ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:cds:HLA-DRB1*15 (human) PMID:20211906|REF_RGD_ID:5147579 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:1395 schistosomiasis treatment ISO RGD:1349823 D RGD:9068941 20200723 RGD DNA:polymorphism: :HLA-DRB1*13 PMID:16709874|REF_RGD_ID:36049813 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:14040 autoimmune polyendocrine syndrome susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:HLA-DRB1*0405, HLA-DRB1*0802 (human) PMID:16254435|REF_RGD_ID:5147646 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:14115 toxic shock syndrome ISO RGD:1349823 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood PMID:15644645|REF_RGD_ID:5490203 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:14330 Parkinson's disease ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism: :HLA-DRB1*03 (human) PMID:20462916|REF_RGD_ID:5147576 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:1459 hypothyroidism ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:17588142|REF_RGD_ID:5147628 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:1495 cystic echinococcosis ISO RGD:1349823 D RGD:9068941 20200724 RGD DNA:polymorphism: :HLA-DRB1*03, DRB1*07(human) PMID:22308705|REF_RGD_ID:36174019 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:1555 urticaria ISO RGD:1349823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:1555 urticaria ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:20559009|REF_RGD_ID:5147574 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:1555 urticaria ISO RGD:1349823 D RGD:9068941 20200609 RGD aspirin induced urticaria (AIU) PMID:16502481|REF_RGD_ID:4144844 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:1558 angioedema ISO RGD:1349823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15784113 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:1586 rheumatic fever ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes:multiple PMID:17559688|REF_RGD_ID:5147792 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:1612 breast cancer ISO RGD:1349823 D RGD:9068941 20200609 RGD PMID:16799707|REF_RGD_ID:2306231 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:1612 breast cancer susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD PMID:11349219|REF_RGD_ID:2314699 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:1686 glaucoma susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:Haplotype: :HLA-DRB1*0407(human) PMID:10511023|REF_RGD_ID:7365116 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:1883 hepatitis C susceptibility ISO RGD:1349823 D RGD:9068941 20201225 RGD DNA:polymorphism:cds:HLA-DRB1*11 (human) PMID:21535077|REF_RGD_ID:40902997 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:2048 autoimmune hepatitis ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:11182227|REF_RGD_ID:5147810 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:2048 autoimmune hepatitis ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:17050030|REF_RGD_ID:5147634 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:2048 autoimmune hepatitis susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:15763345|REF_RGD_ID:5147652 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:2048 autoimmune hepatitis susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:10573514|REF_RGD_ID:5147856 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:2377 multiple sclerosis ISO RGD:1349823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25911099 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:2377 multiple sclerosis onset ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism: :HLA-DRB1*0801 (human) PMID:20580995|REF_RGD_ID:5147573 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1349823 D RGD:7240710 20190502 OMIM 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:2841 asthma ISO RGD:1349823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16792590 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:2841 asthma ISO RGD:1349823 D RGD:9068941 20200609 RGD PMID:19528258|REF_RGD_ID:4144196 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:2841 asthma ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:10051703|REF_RGD_ID:1331670 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:2841 asthma ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:19439981|REF_RGD_ID:5147663 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:2841 asthma no_association ISO RGD:1349823 D RGD:9068941 20200609 RGD PMID:23331206|REF_RGD_ID:13506906 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:2841 asthma severity ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:20486920|REF_RGD_ID:5147607 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:2841 asthma susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD PMID:20214848|REF_RGD_ID:4144181 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:2841 asthma susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:20159242|REF_RGD_ID:13506913 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:289 endometriosis severity ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:SNP: :rs660895 (human) PMID:20797713|REF_RGD_ID:5147572 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:2945 severe acute respiratory syndrome ISO RGD:1349823 D RGD:9068941 20200625 RGD DNA:polymorphism:cds:HLA-DRB1*12 (human) PMID:19445991|REF_RGD_ID:32716374 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:2945 severe acute respiratory syndrome ISO RGD:1349823 D RGD:9068941 20200626 RGD DNA:polymorphism:cds:HLA-DRB1*0301 (human) PMID:15243926|REF_RGD_ID:32716381 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:2957 pulmonary tuberculosis ISO RGD:1349823 D RGD:9068941 20200717 RGD DNA:polymorphism: :HLA-DRB1*09:01(human) PMID:28612994|REF_RGD_ID:36049765 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1349823 D RGD:9068941 20200716 RGD DNA:polymorphism:cds:HLA-DRB1*0201(human) PMID:24024195|REF_RGD_ID:36049753 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:2988 antiphospholipid syndrome ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:11157139|REF_RGD_ID:5147862 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:3459 breast carcinoma ISO RGD:1349823 D RGD:9068941 20200609 RGD PMID:15382064|REF_RGD_ID:2306233 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:3492 mixed connective tissue disease ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:HLA-DRB1*04 (human) PMID:12559632|REF_RGD_ID:5147801 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:399 tuberculosis ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:17153701|PMID:21251479|REF_RGD_ID:5147605|REF_RGD_ID:5147633 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:399 tuberculosis susceptibility ISO RGD:1349823 D RGD:9068941 20200723 RGD associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-BRB1*10 PMID:19030725|REF_RGD_ID:36049809 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:401 multidrug-resistant tuberculosis ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:14522182|REF_RGD_ID:5147828 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:417 autoimmune disease ISO RGD:1349823 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphisms: :multiple (human) PMID:21744463|REF_RGD_ID:5147554 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:417 autoimmune disease susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD associated with glucoma;DNA:polymorphism: :HLA-DRB1*1502(human) PMID:16005081|REF_RGD_ID:7365071 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:437 myasthenia gravis onset ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism: :HLA-DRB1*0901, HLA-DRB1*1302(human) PMID:15003812|REF_RGD_ID:7365079 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:437 myasthenia gravis susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism: :HLA-DRB1∗09,HLA- DRB1∗08(human) PMID:21924912|REF_RGD_ID:7365051 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1349823 D RGD:9068941 20200609 RGD PMID:12771724|REF_RGD_ID:2314695 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD PMID:10895068|PMID:9044854|REF_RGD_ID:2314701|REF_RGD_ID:2314704 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:4780 anti-basement membrane glomerulonephritis susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:21569485|REF_RGD_ID:5147561 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:4989 pancreatitis ISO RGD:1349823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25217962 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:5082 liver cirrhosis susceptibility ISO RGD:1349823 D RGD:9068941 20200716 RGD associated with Schistosomiasis Japonica;DNA:polymorphisms: :HLA-DRB1*0901, HLA-DRB1*1302, HLA-DRB1*1501(human) PMID:11336748|REF_RGD_ID:36049755 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:20345872|REF_RGD_ID:5147659 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:526 human immunodeficiency virus infectious disease disease_progression ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:21257739|REF_RGD_ID:5147591 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:1349823 D RGD:9068941 20201225 RGD DNA:polymorphism:cds:HLA-DRB1*08, HLA-B*35, HLA-C*04 (human) PMID:28244954|REF_RGD_ID:40903000 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:5419 schizophrenia ISO RGD:1349823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16223876 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:576 proteinuria ISO RGD:1349823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11436868|PMID:6420562 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:633 myositis ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:HLA-DRB1*0301 (human) PMID:16609350|REF_RGD_ID:5147793 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:633 myositis ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes:cds:HLA-DRB1*02, HLA-DRB1*03 (human) PMID:17586554|REF_RGD_ID:5147629 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:633 myositis ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms:multiple PMID:21125283|REF_RGD_ID:5147568 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:639 acute disseminated encephalomyelitis susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:19722042|REF_RGD_ID:5147662 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:639 acute disseminated encephalomyelitis susceptibility ISO RGD:1349823 D RGD:9068941 20200717 RGD DNA:polymorphism, haplotype: : PMID:22786832|REF_RGD_ID:36049763 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:639 acute disseminated encephalomyelitis susceptibility ISO RGD:1349823 D RGD:9068941 20201127 RGD DNA:polymorphism:cds:HLA-DRB1*1501 (human) PMID:15201511|REF_RGD_ID:40818409 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1349823 D RGD:9068941 20200609 RGD PMID:19908388|REF_RGD_ID:5147587 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:10457895|REF_RGD_ID:5147863 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:7147 ankylosing spondylitis severity ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:HLA-DRB1*0801, HLA-DRB1*0804 (human) PMID:19565552|REF_RGD_ID:5147611 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:7148 rheumatoid arthritis ISO RGD:1349823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19898480|PMID:20453842|PMID:22286218 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:7148 rheumatoid arthritis ISO RGD:1349823 D RGD:9068941 20200609 RGD PMID:18512783|REF_RGD_ID:4144826 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:7148 rheumatoid arthritis ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:11454644|REF_RGD_ID:5147860 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:7148 rheumatoid arthritis ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:19117368|REF_RGD_ID:5147616 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:21246357|REF_RGD_ID:5147567 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:7188 autoimmune thyroiditis ISO RGD:1349823 D RGD:9068941 20200609 RGD PMID:21683551|REF_RGD_ID:5147557 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:7188 autoimmune thyroiditis ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:12126634|PMID:20825955|REF_RGD_ID:5147571|REF_RGD_ID:5147805 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:750 peptic ulcer disease susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD associated with Helicobacter Infections;DNA:polymorphisms:cds:HLA-DRB1*07, HLA-DRB1*17 (human) PMID:20405713|REF_RGD_ID:5147609 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:7693 abdominal aortic aneurysm ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:16879749|REF_RGD_ID:5147825 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:8568 infectious mononucleosis susceptibility ISO RGD:1349823 D RGD:9068941 20201127 RGD DNA:polymorphism:cds:HLA-DRB1*0101 (human) PMID:21482926|REF_RGD_ID:40818406 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:8577 ulcerative colitis ISO RGD:1349823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25559196 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:8778 Crohn's disease ISO RGD:1349823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25559196 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:8869 neuromyelitis optica ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:21748712|REF_RGD_ID:5147590 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:8869 neuromyelitis optica susceptibility ISO RGD:1349823 D RGD:9068941 20200723 RGD DNA:polymorphism:: HLA-DRB1*04:04, DRB1*07:01, DRB1*10:01(human) PMID:27049564|REF_RGD_ID:11530523 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:HLA-DRB1*0901, HLA-DRB1*0410 (human) PMID:10435723|REF_RGD_ID:11041758 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:8929 atrophic gastritis ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:20082482|REF_RGD_ID:5147582 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus Type 1;DNA:polymorphism::DRB1*0301,DRB1*0402(human) PMID:23837223|REF_RGD_ID:7365113 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:8986 narcolepsy ISO RGD:1349823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20711174 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:8986 narcolepsy susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:multiple (human) PMID:11179016|REF_RGD_ID:5147861 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1349823 D RGD:9068941 20200609 RGD PMID:15458897|REF_RGD_ID:2306232 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1349823 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections PMID:10073700|PMID:18351579|REF_RGD_ID:2306230|REF_RGD_ID:2314703 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9000457 Germ Cell and Embryonal Neoplasms susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD PMID:8712095|PMID:9374382|REF_RGD_ID:2314705|REF_RGD_ID:2314706 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9000906 Oropharyngeal Neoplasms ISO RGD:1349823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27749845 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9000942 Actinic Prurigo susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:Polymorphism: :HLA-DRB1*14(human) PMID:11369906|REF_RGD_ID:7365088 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9001365 Amebic Liver Abscess susceptibility ISO RGD:1349823 D RGD:9068941 20200723 RGD DNA:polymorphism, haplotype: :HLA-DRB1*08 PMID:25938667|REF_RGD_ID:36049810 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9001415 Mycobacterium Infections susceptibility ISO RGD:1349823 D RGD:9068941 20201127 RGD associated with pulmonary sarcoidosis PMID:15881283|REF_RGD_ID:40818305 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9001472 Nasal Polyps ISO RGD:1349823 D RGD:9068941 20200609 RGD associated with intrinsic asthma;DNA:polymorphisms:cds:HLA-DR7 (human) PMID:10718431|REF_RGD_ID:5147813 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9001488 Human Influenza ISO RGD:1349823 D RGD:9068941 20200609 RGD PMID:19386707|REF_RGD_ID:4144816 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1593282 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9002457 Experimental Arthritis ISO RGD:1349823 D RGD:9068941 20200609 RGD PMID:19950279|PMID:21665435|REF_RGD_ID:5147558|REF_RGD_ID:5147586 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9002762 Ovarian Neoplasms ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:amplification, deletion PMID:18561316|REF_RGD_ID:2306229 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1349823 D RGD:9068941 20200609 RGD PMID:16194572|REF_RGD_ID:5147647 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9002780 Recurrent Respiratory Papillomatosis severity ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:HLA-DRB1*0301, HLA-DRB1*0102 (human) PMID:15336778|REF_RGD_ID:5147657 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9003284 HIV Seropositivity ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:20224785|REF_RGD_ID:5147578 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1349823 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections PMID:10755413|REF_RGD_ID:2314700 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9003373 Uterine Cervical Neoplasms susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD PMID:12447731|PMID:19272325|REF_RGD_ID:2306228|REF_RGD_ID:2314697 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9003817 Sudden Hearing Loss ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism: :HLA-DRB1*14,HLA-DRB1*04(human) PMID:11099146|REF_RGD_ID:7365092 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9003817 Sudden Hearing Loss susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism: :HLA-DRB1*0403(human) PMID:16303674|REF_RGD_ID:7365115 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9004017 Chronic Hepatitis C ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:18925312|REF_RGD_ID:5147618 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1349823 D RGD:9068941 20200730 RGD DNA:polymorphisms:cds:HLA-DRB1*030101, DRB1*0701(human) PMID:17489060|REF_RGD_ID:36174022 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9004422 Chagas Cardiomyopathy susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism:exon (human) PMID:19811437|REF_RGD_ID:5147589 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9004735 Idiopathic Hypersomnolence ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:19927159|REF_RGD_ID:5147660 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9005723 Multibacillary Leprosy ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:20353806|REF_RGD_ID:5147577 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9006404 Tubulointerstitial Nephritis and Uveitis ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:12556395|REF_RGD_ID:5147802 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9006862 PERITONEAL GLIOMATOSIS ISO RGD:1349823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peritoneal Gliomatosis 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9007019 Pneumocystis Infections ISO RGD:1593282 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchoalveolar lavage, alveolar macrophage (rat) PMID:20377877|REF_RGD_ID:4144112 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9007096 Stroke susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:HLA-DRB1*0802 (human) PMID:12373032|REF_RGD_ID:5147804 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9007098 Pulmonary Atresia ISO RGD:1349823 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9007355 Hashimoto Disease susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:19254248|REF_RGD_ID:5147613 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21570397 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9007647 Trichiasis susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism: :HLA-DRB1*11(human) PMID:18824733|REF_RGD_ID:7364877 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9007996 End Stage Liver Disease susceptibility ISO RGD:1349823 D RGD:9068941 20200724 RGD associated with hepatitis C;DNA:polymorphism: : HLA-DRB1*11(human) PMID:11302974|REF_RGD_ID:36174014 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9008114 Helicobacter Infections ISO RGD:1349823 D RGD:9068941 20200609 RGD associated with Purpura, Thrombocytopenic, Idiopathic;DNA:polymorphisms (human) PMID:16011982|REF_RGD_ID:5147649 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9008114 Helicobacter Infections susceptibility ISO RGD:1349823 D RGD:9068941 20200717 RGD DNA:polymorphisms: :HLA-DRB1*11, HLA-DRB1*12(human) PMID:15833172|REF_RGD_ID:36049761 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:haplotype:: PMID:16883532|REF_RGD_ID:14398840 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1349823 D RGD:9068941 20200717 RGD DNA:polymorphisms: : PMID:16237774|REF_RGD_ID:36049762 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1349823 D RGD:9068941 20201127 RGD DNA:polymorphism:cds:HLA-DRB1*07 (human) PMID:16094724|REF_RGD_ID:40818403 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9008276 Juvenile Pauciarticular Chronic Arthritis susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism: :HLA-DRB1*1104, HLA-DRB1*080(human) PMID:7955632|REF_RGD_ID:7365102 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9074 systemic lupus erythematosus ISO RGD:1349823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11436868 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9074 systemic lupus erythematosus ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:21658414|REF_RGD_ID:5147560 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9074 systemic lupus erythematosus ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:HLA-DRB1*0301, HLA-DRB1*1501 (human) PMID:20191587|REF_RGD_ID:5147581 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1349823 D RGD:9068941 20201225 RGD DNA:polymorphisms:cds:HLA-DRB1*0301 (human) PMID:12651073|REF_RGD_ID:40902999 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9146 visceral leishmaniasis ISO RGD:1349823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291585 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9182 pemphigus ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:18780165|REF_RGD_ID:5147619 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9182 pemphigus susceptibility ISO RGD:1349823 D RGD:9068941 20201203 RGD DNA:polymorphism:cds:HLA-DRB1*0403, *0406, *1401, *1405, *1406 (human) PMID:9347787|REF_RGD_ID:40818304 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9415 allergic asthma susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD PMID:22397267|REF_RGD_ID:13506905 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9744 type 1 diabetes mellitus ISO RGD:1349823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26168013 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9744 type 1 diabetes mellitus ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:20858521|REF_RGD_ID:5147569 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:20510319|REF_RGD_ID:5147575 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD PMID:12270547|REF_RGD_ID:2314698 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:9849 Meniere's disease susceptibility ISO RGD:1349823 D RGD:9068941 20200609 RGD DNA:polymorphism: : HLA-DRB1*15(human) PMID:12542204|REF_RGD_ID:7364921 12222722 HLA-DRB1 MHC class II DLA DRB1 beta chain gene DOID:998 eosinophilia-myalgia syndrome ISO RGD:1349823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19790128 12222732 ARHGAP15 Rho GTPase activating protein 15 gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1348610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 12222732 ARHGAP15 Rho GTPase activating protein 15 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1348610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:21981781|PMID:23632792 12222732 ARHGAP15 Rho GTPase activating protein 15 gene DOID:630 genetic disease ISO RGD:1348610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222756 DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1603338 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12222756 DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 gene DOID:0110610 primary ciliary dyskinesia 34 ISO RGD:1603338 D RGD:7240710 20190315 OMIM 12222756 DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 gene DOID:0110610 primary ciliary dyskinesia 34 ISO RGD:1603338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 34 PMID:25741868|PMID:27486783|PMID:28492532 12222756 DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 gene DOID:1059 intellectual disability ISO RGD:1603338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12222756 DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 gene DOID:630 genetic disease ISO RGD:1603338 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12222756 DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 gene DOID:9007073 Cough ISO RGD:1603338 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cough PMID:25741868|PMID:28492532 12222756 DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1603338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 12222778 DHX36 DEAH-box helicase 36 gene DOID:630 genetic disease ISO RGD:1318732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222809 HK1 hexokinase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868|PMID:28492532|PMID:30778173 12222809 HK1 hexokinase 1 gene DOID:0080600 COVID-19 ISO RGD:737450 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12222809 HK1 hexokinase 1 gene DOID:0110196 Charcot-Marie-Tooth disease type 4G ISO RGD:737450 D RGD:7240710 20180130 OMIM 12222809 HK1 hexokinase 1 gene DOID:0110196 Charcot-Marie-Tooth disease type 4G ISO RGD:737450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4G | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4G | ClinVar Annotator: match by term: Neuropathy, hereditary motor and sensory, Russe type PMID:10915613|PMID:11601496|PMID:17576681|PMID:19536174|PMID:22978647|PMID:23996628|PMID:25741868|PMID:28492532|PMID:30778173|PMID:9536098 12222809 HK1 hexokinase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:737450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:30778173 12222809 HK1 hexokinase 1 gene DOID:10923 sickle cell anemia ISO RGD:737450 D RGD:9068941 20200609 RGD protein:alternative form:erythrocyte PMID:5686464|REF_RGD_ID:11353884 12222809 HK1 hexokinase 1 gene DOID:11054 urinary bladder cancer treatment ISO RGD:2796 D RGD:9068941 20200609 RGD PMID:23893687|REF_RGD_ID:11353960 12222809 HK1 hexokinase 1 gene DOID:1826 epilepsy ISO RGD:737450 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12222809 HK1 hexokinase 1 gene DOID:2355 anemia ISO RGD:737450 D RGD:9068941 20200609 RGD DNA:SNP: :rs7072268 (human) PMID:19651813|REF_RGD_ID:11353879 12222809 HK1 hexokinase 1 gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:10710 D RGD:9068941 20200609 RGD DNA, protein:insertion, decreased activity:intron, kidney, spleen, erythrocyte PMID:11783948|REF_RGD_ID:11353878 12222809 HK1 hexokinase 1 gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:737450 D RGD:9068941 20200609 RGD DNA:deletion, missense mutation:CDS:577_672del, 1677T>C (p.L529S) (human) PMID:7655856|REF_RGD_ID:1601519 12222809 HK1 hexokinase 1 gene DOID:3612 retinitis ISO RGD:737450 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Retinitis PMID:25741868|PMID:28492532 12222809 HK1 hexokinase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12222809 HK1 hexokinase 1 gene DOID:4448 macular degeneration ISO RGD:737450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25741868|PMID:28492532 12222809 HK1 hexokinase 1 gene DOID:630 genetic disease ISO RGD:737450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30778173 12222809 HK1 hexokinase 1 gene DOID:6432 pulmonary hypertension ISO RGD:2796 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:25767292|REF_RGD_ID:11353880 12222809 HK1 hexokinase 1 gene DOID:8501 fundus dystrophy ISO RGD:737450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25190649|PMID:25316723|PMID:25741868|PMID:26427411|PMID:28492532|PMID:28765615 12222809 HK1 hexokinase 1 gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:2796 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cardiac ventricle PMID:24525799|REF_RGD_ID:11353961 12222809 HK1 hexokinase 1 gene DOID:9000780 Hexokinase Deficiency Hemolytic Anemia ISO RGD:737450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hexokinase deficiency hemolytic anemia PMID:11783948|PMID:12211198|PMID:12393545|PMID:19536174|PMID:19608687|PMID:22978647|PMID:25741868|PMID:27282571|PMID:28492532|PMID:30778173|PMID:31119733|PMID:34532855|PMID:6848140|PMID:7655856 12222809 HK1 hexokinase 1 gene DOID:9003818 NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES ISO RGD:737450 D RGD:7240710 20191016 OMIM 12222809 HK1 hexokinase 1 gene DOID:9003818 NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES ISO RGD:737450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with visual defects and brain anomalies PMID:25741868|PMID:28492532|PMID:30778173 12222809 HK1 hexokinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:30778173 12222809 HK1 hexokinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12222809 HK1 hexokinase 1 gene DOID:9006205 Animal Disease Models ISO RGD:737450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12222809 HK1 hexokinase 1 gene DOID:9006276 Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency ISO RGD:737450 D RGD:7240710 20180130 OMIM 12222809 HK1 hexokinase 1 gene DOID:9006276 Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency ISO RGD:737450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY PMID:11783948|PMID:12211198|PMID:12393545|PMID:19536174|PMID:19608687|PMID:22978647|PMID:25741868|PMID:27282571|PMID:28492532|PMID:30778173|PMID:31119733|PMID:34532855|PMID:6848140|PMID:7655856 12222809 HK1 hexokinase 1 gene DOID:9006996 Retinitis Pigmentosa 79 ISO RGD:737450 D RGD:7240710 20190315 OMIM 12222809 HK1 hexokinase 1 gene DOID:9006996 Retinitis Pigmentosa 79 ISO RGD:737450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 79 PMID:25190649|PMID:25316723|PMID:25741868|PMID:26427411|PMID:28492532|PMID:28765615|PMID:30778173 12222809 HK1 hexokinase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:737450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12222809 HK1 hexokinase 1 gene DOID:9256 colorectal cancer ISO RGD:2796 D RGD:9068941 20200609 RGD PMID:19877886|REF_RGD_ID:11353883 12222809 HK1 hexokinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12222809 HK1 hexokinase 1 gene DOID:9538 multiple myeloma ISO RGD:737450 D RGD:9068941 20200609 RGD PMID:19996089|REF_RGD_ID:11353882 12222809 HK1 hexokinase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737450 D RGD:9068941 20200609 RGD protein:decreased activity:platelet PMID:21921332|REF_RGD_ID:11353881 12222809 HK1 hexokinase 1 gene DOID:9970 obesity ISO RGD:737450 D RGD:9068941 20200609 RGD PMID:131232|REF_RGD_ID:1601527 12222809 HK1 hexokinase 1 gene DOID:9970 obesity susceptibility ISO RGD:2796 D RGD:9068941 20200609 RGD PMID:12524468|REF_RGD_ID:1601528 12222840 C9 complement C9 gene DOID:0060303 complement component 9 deficiency ISO RGD:1320687 D RGD:7240710 20230510 OMIM 12222840 C9 complement C9 gene DOID:0060303 complement component 9 deficiency ISO RGD:1320687 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Complement component 9 deficiency PMID:11359403|PMID:12596049|PMID:22190594|PMID:2241452|PMID:25741868|PMID:28492532|PMID:28617419|PMID:9144525|PMID:9182899|PMID:9570574|PMID:9634479|PMID:9703418 12222840 C9 complement C9 gene DOID:0080176 meningococcal meningitis ISO RGD:1320687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9570574 12222840 C9 complement C9 gene DOID:0080322 polycystic kidney disease treatment ISO RGD:620319 D RGD:9068941 20200609 RGD PMID:24494798|REF_RGD_ID:8661641 12222840 C9 complement C9 gene DOID:0080322 polycystic kidney disease treatment ISO RGD:732832 D RGD:9068941 20200609 RGD PMID:24494798|REF_RGD_ID:8661641 12222840 C9 complement C9 gene DOID:0110027 age related macular degeneration 15 ISO RGD:1320687 D RGD:7240710 20230510 OMIM 12222840 C9 complement C9 gene DOID:0110027 age related macular degeneration 15 ISO RGD:1320687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 15 PMID:24036952|PMID:28492532 12222840 C9 complement C9 gene DOID:10223 dermatomyositis ISO RGD:1320687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11359403 12222840 C9 complement C9 gene DOID:1790 malignant mesothelioma ISO RGD:1320687 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 12222840 C9 complement C9 gene DOID:2559 opiate dependence ISO RGD:1320687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 12222840 C9 complement C9 gene DOID:3134 facial dermatosis ISO RGD:1320687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11359403 12222840 C9 complement C9 gene DOID:4448 macular degeneration ISO RGD:1320687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036952 12222840 C9 complement C9 gene DOID:612 primary immunodeficiency disease ISO RGD:1320687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11359403|PMID:9570574 12222840 C9 complement C9 gene DOID:630 genetic disease ISO RGD:1320687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12222840 C9 complement C9 gene DOID:684 hepatocellular carcinoma ISO RGD:1320687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144|PMID:28284560 12222840 C9 complement C9 gene DOID:898 autosomal dominant polycystic kidney disease disease_progression ISO RGD:1320687 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:24494798|REF_RGD_ID:8661641 12222840 C9 complement C9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12222840 C9 complement C9 gene DOID:9006976 Erythema ISO RGD:1320687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11359403 12222855 ERICH3 glutamate rich 3 gene DOID:630 genetic disease ISO RGD:1603912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222875 CCL16 C-C motif chemokine ligand 16 gene DOID:630 genetic disease ISO RGD:1352726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222875 CCL16 C-C motif chemokine ligand 16 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:1352726 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:23593305|REF_RGD_ID:38508895 12222882 FAM78A family with sequence similarity 78 member A gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1354321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12222882 FAM78A family with sequence similarity 78 member A gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1354321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 12222882 FAM78A family with sequence similarity 78 member A gene DOID:630 genetic disease ISO RGD:1354321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222888 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1347474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF PMID:25741868|PMID:25772934 12222888 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12222888 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 12222888 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0080198 infantile histiocytoid cardiomyopathy ISO RGD:1347474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Foamy myocardial transformation of infancy PMID:25741868|PMID:25772934 12222888 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12222888 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12222888 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0111808 linear skin defects with multiple congenital anomalies 1 ISO RGD:1347474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1 PMID:25741868|PMID:25772934 12222888 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0111875 MLS syndrome ISO RGD:1347474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MLS syndrome PMID:25741868|PMID:25772934 12222888 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0111876 linear skin defects with multiple congenital anomalies 3 ISO RGD:1347474 D RGD:7240710 20180130 OMIM 12222888 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0111876 linear skin defects with multiple congenital anomalies 3 ISO RGD:1347474 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: LINEAR SKIN DEFECTS WITH CARDIOMYOPATHY AND OTHER CONGENITAL ANOMALIES | ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 3 PMID:25741868|PMID:25772934|PMID:26741492|PMID:27488349|PMID:28050600|PMID:30423443|PMID:31243186 12222888 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1347474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:25772934 12222888 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0112098 nuclear type mitochondrial complex I deficiency 30 ISO RGD:1347474 D RGD:7240710 20190315 OMIM 12222888 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0112098 nuclear type mitochondrial complex I deficiency 30 ISO RGD:1347474 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 PMID:25741868|PMID:25772934|PMID:26741492|PMID:27488349|PMID:28050600|PMID:30423443|PMID:31243186 12222888 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 12222888 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347474 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12222888 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:12849 autistic disorder ISO RGD:1347474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12222888 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:630 genetic disease ISO RGD:1347474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12222888 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12222895 TAF7L TATA-box binding protein associated factor 7 like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12222895 TAF7L TATA-box binding protein associated factor 7 like gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1350801 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 12222895 TAF7L TATA-box binding protein associated factor 7 like gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1350801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 12222895 TAF7L TATA-box binding protein associated factor 7 like gene DOID:12849 autistic disorder ISO RGD:1350801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12222895 TAF7L TATA-box binding protein associated factor 7 like gene DOID:14499 Fabry disease ISO RGD:1350801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:10666480|PMID:12175777|PMID:28492532 12222895 TAF7L TATA-box binding protein associated factor 7 like gene DOID:630 genetic disease ISO RGD:1350801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222895 TAF7L TATA-box binding protein associated factor 7 like gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1350801 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 12222915 IL22 interleukin 22 gene DOID:2048 autoimmune hepatitis ISO RGD:1344987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 12222915 IL22 interleukin 22 gene DOID:2841 asthma ISO RGD:1344987 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21297073|REF_RGD_ID:5147403 12222915 IL22 interleukin 22 gene DOID:2841 asthma severity ISO RGD:1344987 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell PMID:21535180|REF_RGD_ID:5147409 12222915 IL22 interleukin 22 gene DOID:2841 asthma treatment ISO RGD:1561292 D RGD:9068941 20200609 RGD PMID:21998459|REF_RGD_ID:11046261 12222915 IL22 interleukin 22 gene DOID:3525 middle cerebral artery infarction ISO RGD:1344987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 12222915 IL22 interleukin 22 gene DOID:399 tuberculosis ISO RGD:1344987 D RGD:9068941 20200609 RGD PMID:21767990|REF_RGD_ID:5147402 12222915 IL22 interleukin 22 gene DOID:4483 rhinitis severity ISO RGD:1344987 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell PMID:21535180|REF_RGD_ID:5147409 12222915 IL22 interleukin 22 gene DOID:630 genetic disease ISO RGD:1344987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222915 IL22 interleukin 22 gene DOID:820 myocarditis ISO RGD:1561292 D RGD:9068941 20200609 RGD PMID:16951323|REF_RGD_ID:5147414 12222915 IL22 interleukin 22 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:1344987 D RGD:9068941 20200609 RGD PMID:20463292|REF_RGD_ID:5147406 12222915 IL22 interleukin 22 gene DOID:9000955 Acute Otitis Media disease_progression ISO RGD:1561292 D RGD:9068941 20201118 RGD protein:increased expression:serum (rat) PMID:27497403|REF_RGD_ID:40818299 12222915 IL22 interleukin 22 gene DOID:9001415 Mycobacterium Infections ISO RGD:1344987 D RGD:9068941 20200609 RGD PMID:19864591|REF_RGD_ID:5147407 12222915 IL22 interleukin 22 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1561292 D RGD:9068941 20200609 RGD PMID:19269041|REF_RGD_ID:2311529 12222915 IL22 interleukin 22 gene DOID:9004484 Sepsis ISO RGD:1561292 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19664145|REF_RGD_ID:5147412 12222915 IL22 interleukin 22 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344987 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15122762|PMID:16212920|PMID:23375450 12222922 BMP10 bone morphogenetic protein 10 gene DOID:630 genetic disease ISO RGD:1353352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222922 BMP10 bone morphogenetic protein 10 gene DOID:6419 tetralogy of Fallot ISO RGD:1558624 D RGD:9068941 20220825 MouseDO OMIM:187500 12222922 BMP10 bone morphogenetic protein 10 gene DOID:9000784 Fibrosis ISO RGD:1353352 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31712309 12222922 BMP10 bone morphogenetic protein 10 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1562986 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA:increased expression:heart left ventricle PMID:17921333|REF_RGD_ID:2302083 12222922 BMP10 bone morphogenetic protein 10 gene DOID:9651 systolic heart failure ISO RGD:1353352 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31712309 12222928 PPIC peptidylprolyl isomerase C gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1344607 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12222928 PPIC peptidylprolyl isomerase C gene DOID:630 genetic disease ISO RGD:1344607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222928 PPIC peptidylprolyl isomerase C gene DOID:9000217 Stomach Neoplasms ISO RGD:1344607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12222928 PPIC peptidylprolyl isomerase C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12222928 PPIC peptidylprolyl isomerase C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344607 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12222928 PPIC peptidylprolyl isomerase C gene DOID:9007386 Congenital Lower Urinary Tract Obstruction ISO RGD:1344607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital PMID:31690835 12222942 PCED1A PC-esterase domain containing 1A gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1318837 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12222942 PCED1A PC-esterase domain containing 1A gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1318837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12222942 PCED1A PC-esterase domain containing 1A gene DOID:630 genetic disease ISO RGD:1318837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222958 TWIST2 twist family bHLH transcription factor 2 gene DOID:0060549 Barber-Say syndrome ISO RGD:735468 D RGD:7240710 20180130 OMIM 12222958 TWIST2 twist family bHLH transcription factor 2 gene DOID:0060549 Barber-Say syndrome ISO RGD:735468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Barber-Say syndrome PMID:16650233|PMID:1867254|PMID:19760652|PMID:20799330|PMID:20830793|PMID:25741868|PMID:26119818|PMID:27092433|PMID:28680619|PMID:8368246|PMID:9674915 12222958 TWIST2 twist family bHLH transcription factor 2 gene DOID:0060550 ablepharon macrostomia syndrome ISO RGD:735468 D RGD:7240710 20180130 OMIM 12222958 TWIST2 twist family bHLH transcription factor 2 gene DOID:0060550 ablepharon macrostomia syndrome ISO RGD:735468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ablepharon macrostomia syndrome PMID:11038439|PMID:11807864|PMID:15103726|PMID:2036354|PMID:21595001|PMID:25741868|PMID:26119818|PMID:8746822 12222958 TWIST2 twist family bHLH transcription factor 2 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:735468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12222958 TWIST2 twist family bHLH transcription factor 2 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:735468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12222958 TWIST2 twist family bHLH transcription factor 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:735468 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12222958 TWIST2 twist family bHLH transcription factor 2 gene DOID:1059 intellectual disability ISO RGD:735468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12222958 TWIST2 twist family bHLH transcription factor 2 gene DOID:630 genetic disease ISO RGD:735468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11038439|PMID:11807864|PMID:15103726|PMID:2036354|PMID:21595001|PMID:25741868|PMID:26119818|PMID:8746822 12222958 TWIST2 twist family bHLH transcription factor 2 gene DOID:9000745 Focal Facial Dermal Dysplasia ISO RGD:735468 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism 12222958 TWIST2 twist family bHLH transcription factor 2 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:735468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12222958 TWIST2 twist family bHLH transcription factor 2 gene DOID:9003398 Focal Facial Dermal Dysplasia 3 ISO RGD:735468 D RGD:7240710 20180130 OMIM 12222958 TWIST2 twist family bHLH transcription factor 2 gene DOID:9003398 Focal Facial Dermal Dysplasia 3 ISO RGD:735468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal facial dermal dysplasia 3, Setleis type PMID:14069095|PMID:20691403|PMID:21931173|PMID:8818454 12222967 CD1C CD1c molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1344711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12222967 CD1C CD1c molecule gene DOID:630 genetic disease ISO RGD:1344711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222967 CD1C CD1c molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12222975 OR10K2 olfactory receptor family 10 subfamily K member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1349498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12222975 OR10K2 olfactory receptor family 10 subfamily K member 2 gene DOID:630 genetic disease ISO RGD:1349498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222975 OR10K2 olfactory receptor family 10 subfamily K member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12222979 PTPN18 protein tyrosine phosphatase non-receptor type 18 gene DOID:630 genetic disease ISO RGD:1323122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12222979 PTPN18 protein tyrosine phosphatase non-receptor type 18 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12222994 CUL4A cullin 4A gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1351332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 12222994 CUL4A cullin 4A gene DOID:0060224 atrial fibrillation ISO RGD:1351332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12222994 CUL4A cullin 4A gene DOID:2222 factor X deficiency ISO RGD:1351332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12222994 CUL4A cullin 4A gene DOID:630 genetic disease ISO RGD:1351332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223019 SLC25A27 solute carrier family 25 member 27 gene DOID:5419 schizophrenia susceptibility ISO RGD:1344458 D RGD:9068941 20200609 RGD DNA:SNPs:intron, 3' utr: (rs10807344, rs2270450) PMID:17066476|REF_RGD_ID:6482844 12223019 SLC25A27 solute carrier family 25 member 27 gene DOID:630 genetic disease ISO RGD:1344458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223019 SLC25A27 solute carrier family 25 member 27 gene DOID:9000039 Spinal Cord Injuries ISO RGD:732894 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:18534681|REF_RGD_ID:6482843 12223056 CATIP ciliogenesis associated TTC17 interacting protein gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1602043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12223056 CATIP ciliogenesis associated TTC17 interacting protein gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1602043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12223056 CATIP ciliogenesis associated TTC17 interacting protein gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1602043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12223056 CATIP ciliogenesis associated TTC17 interacting protein gene DOID:0112335 spermatogenic failure 54 ISO RGD:1602043 D RGD:7240710 20210623 OMIM 12223056 CATIP ciliogenesis associated TTC17 interacting protein gene DOID:0112335 spermatogenic failure 54 ISO RGD:1602043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 54 PMID:32503832 12223056 CATIP ciliogenesis associated TTC17 interacting protein gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1602043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12223056 CATIP ciliogenesis associated TTC17 interacting protein gene DOID:630 genetic disease ISO RGD:1602043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223056 CATIP ciliogenesis associated TTC17 interacting protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12223066 CD81 CD81 molecule gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12223066 CD81 CD81 molecule gene DOID:0080773 delta beta-thalassemia ISO RGD:731700 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12223066 CD81 CD81 molecule gene DOID:0081149 common variable immunodeficiency 6 ISO RGD:731700 D RGD:7240710 20190327 OMIM 12223066 CD81 CD81 molecule gene DOID:0081149 common variable immunodeficiency 6 ISO RGD:731700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 6 PMID:20237408|PMID:25741868|PMID:28492532 12223066 CD81 CD81 molecule gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12223066 CD81 CD81 molecule gene DOID:12177 common variable immunodeficiency ISO RGD:731700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12223066 CD81 CD81 molecule gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:731700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12223066 CD81 CD81 molecule gene DOID:1883 hepatitis C ISO RGD:731700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17517063 12223066 CD81 CD81 molecule gene DOID:630 genetic disease ISO RGD:731700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12223066 CD81 CD81 molecule gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:731700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12223091 MRPL35 mitochondrial ribosomal protein L35 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1316034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 12223091 MRPL35 mitochondrial ribosomal protein L35 gene DOID:630 genetic disease ISO RGD:1316034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223091 MRPL35 mitochondrial ribosomal protein L35 gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1316034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 12223099 RAB13 RAB13, member RAS oncogene family gene DOID:0070048 GAND syndrome ISO RGD:733233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 12223099 RAB13 RAB13, member RAS oncogene family gene DOID:0080600 COVID-19 ISO RGD:733233 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12223099 RAB13 RAB13, member RAS oncogene family gene DOID:0111940 immunodeficiency 42 ISO RGD:733233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12223099 RAB13 RAB13, member RAS oncogene family gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:733233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12223099 RAB13 RAB13, member RAS oncogene family gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:733233 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12223099 RAB13 RAB13, member RAS oncogene family gene DOID:1540 parathyroid carcinoma ISO RGD:733233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12223099 RAB13 RAB13, member RAS oncogene family gene DOID:5812 MHC class II deficiency ISO RGD:733233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12223099 RAB13 RAB13, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:733233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223099 RAB13 RAB13, member RAS oncogene family gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12223125 FAM124A family with sequence similarity 124 member A gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1602826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12223125 FAM124A family with sequence similarity 124 member A gene DOID:1059 intellectual disability ISO RGD:1602826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12223125 FAM124A family with sequence similarity 124 member A gene DOID:630 genetic disease ISO RGD:1602826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223125 FAM124A family with sequence similarity 124 member A gene DOID:893 Wilson disease ISO RGD:1602826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:28492532 12223136 MRC2 mannose receptor C type 2 gene DOID:305 carcinoma ISO RGD:1320297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12223136 MRC2 mannose receptor C type 2 gene DOID:630 genetic disease ISO RGD:1320297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223136 MRC2 mannose receptor C type 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1320297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12223136 MRC2 mannose receptor C type 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1320297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12223136 MRC2 mannose receptor C type 2 gene DOID:9009194 Autosomal Dominant Intellectual Developmental Disorder 57 ISO RGD:1320297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 57 PMID:25741868 12223280 LTB4R leukotriene B4 receptor gene DOID:0060439 lysinuric protein intolerance ISO RGD:1348020 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12223280 LTB4R leukotriene B4 receptor gene DOID:10754 otitis media ISO RGD:8702169 D RGD:9068941 20200609 RGD PMID:20433028|REF_RGD_ID:11553910 12223280 LTB4R leukotriene B4 receptor gene DOID:11664 nephrosclerosis ISO RGD:1550123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 12223280 LTB4R leukotriene B4 receptor gene DOID:2349 arteriosclerosis ISO RGD:1550123 D RGD:9068941 20200609 RGD PMID:16043658|REF_RGD_ID:1581956 12223280 LTB4R leukotriene B4 receptor gene DOID:3407 carotid artery disease ISO RGD:620410 D RGD:9068941 20200609 RGD PMID:16293697|REF_RGD_ID:1581954 12223280 LTB4R leukotriene B4 receptor gene DOID:409 liver disease ISO RGD:1348020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12223280 LTB4R leukotriene B4 receptor gene DOID:630 genetic disease ISO RGD:1348020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223280 LTB4R leukotriene B4 receptor gene DOID:9000265 Specific Granule Deficiency ISO RGD:1348020 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12223280 LTB4R leukotriene B4 receptor gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1348020 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12223280 LTB4R leukotriene B4 receptor gene DOID:9005372 Inflammation ISO RGD:1348020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10934231 12223280 LTB4R leukotriene B4 receptor gene DOID:9007278 Anaphylaxis ISO RGD:1348020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10934231 12223280 LTB4R leukotriene B4 receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1550123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28487374 12223280 LTB4R leukotriene B4 receptor gene DOID:9008114 Helicobacter Infections treatment ISO RGD:1348020 D RGD:9068941 20210108 RGD PMID:18571838|REF_RGD_ID:40903061 12223301 LRP1B LDL receptor related protein 1B gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1314617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 12223301 LRP1B LDL receptor related protein 1B gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1314617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:21981781|PMID:23632792 12223301 LRP1B LDL receptor related protein 1B gene DOID:10283 prostate cancer ISO RGD:1314617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12223301 LRP1B LDL receptor related protein 1B gene DOID:10534 stomach cancer ISO RGD:1314617 D RGD:9068941 20211001 RGD DNA:hypermethylation PMID:20095042|REF_RGD_ID:150429774 12223301 LRP1B LDL receptor related protein 1B gene DOID:10652 Alzheimer's disease onset ISO RGD:1314618 D RGD:9068941 20220311 RGD mRNA:increased expression:hippocampus (mouse) PMID:23150673|REF_RGD_ID:151665140 12223301 LRP1B LDL receptor related protein 1B gene DOID:1324 lung cancer ISO RGD:1314617 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12223301 LRP1B LDL receptor related protein 1B gene DOID:1324 lung cancer severity ISO RGD:1314617 D RGD:9068941 20220224 RGD DNA:mutations: :multiple (human) PMID:33219256|REF_RGD_ID:150429789 12223301 LRP1B LDL receptor related protein 1B gene DOID:162 cancer ISO RGD:1314617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cancer 12223301 LRP1B LDL receptor related protein 1B gene DOID:1909 melanoma ISO RGD:1314617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22197931 12223301 LRP1B LDL receptor related protein 1B gene DOID:1909 melanoma ameliorates ISO RGD:1314617 D RGD:9068941 20211001 RGD DNA:mutations:multiple: (human) PMID:31164891|REF_RGD_ID:150429775 12223301 LRP1B LDL receptor related protein 1B gene DOID:219 colon cancer ISO RGD:1314617 D RGD:9068941 20211001 RGD human cells in a mouse moel PMID:28408316|REF_RGD_ID:150429777 12223301 LRP1B LDL receptor related protein 1B gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1314617 D RGD:9068941 20211001 RGD associated with lung adenocarcinoma;DNA:mutations:multiple: (human) PMID:28522810|REF_RGD_ID:150429784 12223301 LRP1B LDL receptor related protein 1B gene DOID:3121 gallbladder cancer ameliorates ISO RGD:1314617 D RGD:9068941 20211001 RGD DNA:mutations:multiple: (human) PMID:32898339|REF_RGD_ID:150429787 12223301 LRP1B LDL receptor related protein 1B gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1314617 D RGD:9068941 20211001 RGD DNA:mutations:multiple: (human) PMID:31164891|REF_RGD_ID:150429775 12223301 LRP1B LDL receptor related protein 1B gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1314617 D RGD:9068941 20211001 RGD DNA:mutations:multiple: (human) PMID:18948947|REF_RGD_ID:11064706 12223301 LRP1B LDL receptor related protein 1B gene DOID:4450 renal cell carcinoma ISO RGD:1314617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 12223301 LRP1B LDL receptor related protein 1B gene DOID:4928 intrahepatic cholangiocarcinoma exacerbates ISO RGD:1314617 D RGD:9068941 20211001 RGD DNA:mutations:multiple: (human) PMID:33014052|REF_RGD_ID:150429786 12223301 LRP1B LDL receptor related protein 1B gene DOID:5409 lung small cell carcinoma ISO RGD:1314617 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 12223301 LRP1B LDL receptor related protein 1B gene DOID:630 genetic disease ISO RGD:1314617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12223301 LRP1B LDL receptor related protein 1B gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1314617 D RGD:9068941 20211001 RGD DNA:mutations:multiple: (human) PMID:33391418|REF_RGD_ID:150429785 12223301 LRP1B LDL receptor related protein 1B gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1314617 D RGD:9068941 20211001 RGD protein:increased expression:liver (human) PMID:33324588|REF_RGD_ID:150429776 12223301 LRP1B LDL receptor related protein 1B gene DOID:9002189 High Myopia ISO RGD:1314617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12223301 LRP1B LDL receptor related protein 1B gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 12223301 LRP1B LDL receptor related protein 1B gene DOID:9256 colorectal cancer exacerbates ISO RGD:1314617 D RGD:9068941 20211001 RGD DNA:mutations, haplotype:multiple: (human) PMID:33836681|REF_RGD_ID:150429788 12223301 LRP1B LDL receptor related protein 1B gene DOID:9256 colorectal cancer exacerbates ISO RGD:1314617 D RGD:9068941 20211001 RGD DNA:mutations, hpalotype:multiple (human) PMID:31693169|REF_RGD_ID:150429790 12223401 RASA3 RAS p21 protein activator 3 gene DOID:12449 aplastic anemia ISO RGD:737295 D RGD:9068941 20220825 MouseDO OMIM:609135 12223401 RASA3 RAS p21 protein activator 3 gene DOID:2222 factor X deficiency ISO RGD:1343935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12223401 RASA3 RAS p21 protein activator 3 gene DOID:630 genetic disease ISO RGD:1343935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223401 RASA3 RAS p21 protein activator 3 gene DOID:9007661 Dwarfism ISO RGD:1343935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12223438 PRKCQ protein kinase C theta gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1350580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 12223438 PRKCQ protein kinase C theta gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1350580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12223438 PRKCQ protein kinase C theta gene DOID:0110892 inflammatory bowel disease 1 ISO RGD:1350580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 12223438 PRKCQ protein kinase C theta gene DOID:2018 hyperinsulinism ISO RGD:620968 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:decreased expression:soleus PMID:8826977|REF_RGD_ID:1625605 12223438 PRKCQ protein kinase C theta gene DOID:2526 prostate adenocarcinoma ISO RGD:620968 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate PMID:8180127|REF_RGD_ID:1625625 12223438 PRKCQ protein kinase C theta gene DOID:5327 retinal detachment ISO RGD:1350580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26978024 12223438 PRKCQ protein kinase C theta gene DOID:5327 retinal detachment ISO RGD:1551360 D RGD:9068941 20220825 MouseDO 12223438 PRKCQ protein kinase C theta gene DOID:630 genetic disease ISO RGD:1350580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223438 PRKCQ protein kinase C theta gene DOID:7148 rheumatoid arthritis ISO RGD:1350580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18794853|PMID:20453842|PMID:23143596 12223438 PRKCQ protein kinase C theta gene DOID:8778 Crohn's disease ISO RGD:1350580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 12223438 PRKCQ protein kinase C theta gene DOID:9004484 Sepsis ISO RGD:620968 D RGD:9068941 20200609 RGD protein:decreased expression:lymphocyte PMID:11735277|REF_RGD_ID:1625613 12223438 PRKCQ protein kinase C theta gene DOID:9007692 Insulin Resistance ISO RGD:620968 D RGD:9068941 20200609 RGD associated with Obesity;protein:decreased expression:skeletal muscle PMID:10923637|REF_RGD_ID:1625603 12223438 PRKCQ protein kinase C theta gene DOID:9007692 Insulin Resistance ISO RGD:620968 D RGD:9068941 20200609 RGD protein:altered localization:skeletal muscle PMID:9000691|REF_RGD_ID:1625604 12223438 PRKCQ protein kinase C theta gene DOID:9008972 Hyperammonemia ISO RGD:620968 D RGD:9068941 20200609 RGD protein:altered localization:neuron PMID:15606904|REF_RGD_ID:1625610 12223438 PRKCQ protein kinase C theta gene DOID:9744 type 1 diabetes mellitus ISO RGD:1350580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18978792 12223473 GPAT3 glycerol-3-phosphate acyltransferase 3 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1606210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 12223473 GPAT3 glycerol-3-phosphate acyltransferase 3 gene DOID:630 genetic disease ISO RGD:1606210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223489 KBTBD3 kelch repeat and BTB domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1322060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12223489 KBTBD3 kelch repeat and BTB domain containing 3 gene DOID:12704 ataxia telangiectasia ISO RGD:1322060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12223489 KBTBD3 kelch repeat and BTB domain containing 3 gene DOID:630 genetic disease ISO RGD:1322060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223489 KBTBD3 kelch repeat and BTB domain containing 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12223499 TPRG1L tumor protein p63 regulated 1 like gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1601827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12223499 TPRG1L tumor protein p63 regulated 1 like gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1601827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12223499 TPRG1L tumor protein p63 regulated 1 like gene DOID:0110994 Joubert syndrome 25 ISO RGD:1601827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12223499 TPRG1L tumor protein p63 regulated 1 like gene DOID:0111934 immunodeficiency 38 ISO RGD:1601827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12223499 TPRG1L tumor protein p63 regulated 1 like gene DOID:0111935 immunodeficiency 16 ISO RGD:1601827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12223499 TPRG1L tumor protein p63 regulated 1 like gene DOID:630 genetic disease ISO RGD:1601827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223499 TPRG1L tumor protein p63 regulated 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12223499 TPRG1L tumor protein p63 regulated 1 like gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1601827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12223507 NBAS NBAS subunit of NRZ tethering complex gene DOID:0080716 infantile liver failure syndrome ISO RGD:1604810 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Infantile liver failure syndrome PMID:24033266|PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28492532|PMID:31761904 12223507 NBAS NBAS subunit of NRZ tethering complex gene DOID:0080778 transient infantile liver failure ISO RGD:1604810 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28252636|PMID:28492532|PMID:30825388|PMID:31761904|PMID:33042920 12223507 NBAS NBAS subunit of NRZ tethering complex gene DOID:13938 amenorrhea ISO RGD:1604810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12223507 NBAS NBAS subunit of NRZ tethering complex gene DOID:5419 schizophrenia ISO RGD:1604810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12223507 NBAS NBAS subunit of NRZ tethering complex gene DOID:630 genetic disease ISO RGD:1604810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12223507 NBAS NBAS subunit of NRZ tethering complex gene DOID:9000217 Stomach Neoplasms ISO RGD:1604810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12223507 NBAS NBAS subunit of NRZ tethering complex gene DOID:9000918 Disease Progression ISO RGD:1604810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12223507 NBAS NBAS subunit of NRZ tethering complex gene DOID:9002596 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly ISO RGD:1604810 D RGD:7240710 20180130 OMIM 12223507 NBAS NBAS subunit of NRZ tethering complex gene DOID:9002596 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly ISO RGD:1604810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature, optic nerve atrophy, and Pelger-Huet anomaly PMID:16199547|PMID:17576681|PMID:20577004|PMID:24033266|PMID:24884844|PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28115293|PMID:28425089|PMID:28492532|PMID:30542205|PMID:30825388|PMID:31761904|PMID:32768688|PMID:32805445|PMID:32812336|PMID:33042920|PMID:34386911|PMID:9536098 12223507 NBAS NBAS subunit of NRZ tethering complex gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1604810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 12223507 NBAS NBAS subunit of NRZ tethering complex gene DOID:9004590 Acute Liver Failure ISO RGD:1604810 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:26541327|REF_RGD_ID:25671408 12223507 NBAS NBAS subunit of NRZ tethering complex gene DOID:9007272 Infantile Liver Failure Syndrome 2 ISO RGD:1604810 D RGD:7240710 20180130 OMIM 12223507 NBAS NBAS subunit of NRZ tethering complex gene DOID:9007272 Infantile Liver Failure Syndrome 2 ISO RGD:1604810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fever-associated acute infantile liver failure syndrome | ClinVar Annotator: match by term: Infantile liver failure syndrome 2 PMID:16199547|PMID:24033266|PMID:25741868|PMID:26073778|PMID:26286438|PMID:26541327|PMID:26578240|PMID:27789416|PMID:28031453|PMID:28252636|PMID:28492532|PMID:28576691|PMID:30558828|PMID:30825388|PMID:31761904|PMID:32313153|PMID:32768688|PMID:32805445|PMID:32812336|PMID:33042920|PMID:34298581|PMID:34386911 12223569 OR5M9 olfactory receptor family 5 subfamily M member 9 gene DOID:1059 intellectual disability ISO RGD:1347852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12223569 OR5M9 olfactory receptor family 5 subfamily M member 9 gene DOID:630 genetic disease ISO RGD:1347852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223572 TRAPPC5 trafficking protein particle complex subunit 5 gene DOID:0080490 mucolipidosis type IV ISO RGD:1344244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12223572 TRAPPC5 trafficking protein particle complex subunit 5 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1344244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 12223572 TRAPPC5 trafficking protein particle complex subunit 5 gene DOID:630 genetic disease ISO RGD:1344244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223582 PLEKHG4 pleckstrin homology and RhoGEF domain containing G4 gene DOID:0050980 spinocerebellar ataxia type 31 ISO RGD:1604025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 31 PMID:16001362|PMID:16614795|PMID:16780885 12223582 PLEKHG4 pleckstrin homology and RhoGEF domain containing G4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12223582 PLEKHG4 pleckstrin homology and RhoGEF domain containing G4 gene DOID:630 genetic disease ISO RGD:1604025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223618 ZNF711 zinc finger protein 711 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1347410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 12223618 ZNF711 zinc finger protein 711 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12223618 ZNF711 zinc finger protein 711 gene DOID:0080859 primary ovarian insufficiency 2B ISO RGD:1347410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 2B 12223618 ZNF711 zinc finger protein 711 gene DOID:0112046 non-syndromic X-linked intellectual disability 97 ISO RGD:1347410 D RGD:7240710 20180130 OMIM 12223618 ZNF711 zinc finger protein 711 gene DOID:0112046 non-syndromic X-linked intellectual disability 97 ISO RGD:1347410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 97 PMID:10398247|PMID:19377476|PMID:25741868|PMID:27993705|PMID:28492532 12223618 ZNF711 zinc finger protein 711 gene DOID:1059 intellectual disability ISO RGD:1347410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:10398247|PMID:25741868|PMID:27993705 12223618 ZNF711 zinc finger protein 711 gene DOID:12849 autistic disorder ISO RGD:1347410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12223618 ZNF711 zinc finger protein 711 gene DOID:630 genetic disease ISO RGD:1347410 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12223618 ZNF711 zinc finger protein 711 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1347410 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19377476 12223649 MYL10 myosin light chain 10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12223649 MYL10 myosin light chain 10 gene DOID:630 genetic disease ISO RGD:1603931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223660 FGF18 fibroblast growth factor 18 gene DOID:10908 hydrocephalus ISO RGD:737083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 12223660 FGF18 fibroblast growth factor 18 gene DOID:11612 polycystic ovary syndrome ISO RGD:737083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12223660 FGF18 fibroblast growth factor 18 gene DOID:1790 malignant mesothelioma ISO RGD:737083 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12223660 FGF18 fibroblast growth factor 18 gene DOID:3910 lung adenocarcinoma ISO RGD:737083 D RGD:9068941 20220520 RGD mRNA:decreased expression:lung (human) PMID:19296538|REF_RGD_ID:150429981 12223660 FGF18 fibroblast growth factor 18 gene DOID:630 genetic disease ISO RGD:737083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223660 FGF18 fibroblast growth factor 18 gene DOID:8398 osteoarthritis ISO RGD:737083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 12223660 FGF18 fibroblast growth factor 18 gene DOID:9007661 Dwarfism ISO RGD:737083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12223660 FGF18 fibroblast growth factor 18 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:737083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303798 12223675 MEIOB meiosis specific with OB-fold gene DOID:0070177 spermatogenic failure 22 ISO RGD:1604193 D RGD:7240710 20190315 OMIM 12223675 MEIOB meiosis specific with OB-fold gene DOID:0070177 spermatogenic failure 22 ISO RGD:1604193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 22 PMID:28206990 12223675 MEIOB meiosis specific with OB-fold gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1604193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 12223675 MEIOB meiosis specific with OB-fold gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12223675 MEIOB meiosis specific with OB-fold gene DOID:14227 azoospermia ISO RGD:1604193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 12223675 MEIOB meiosis specific with OB-fold gene DOID:1826 epilepsy ISO RGD:1604193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12223675 MEIOB meiosis specific with OB-fold gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12223675 MEIOB meiosis specific with OB-fold gene DOID:630 genetic disease ISO RGD:1604193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223709 ARMCX1 armadillo repeat containing X-linked 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12223709 ARMCX1 armadillo repeat containing X-linked 1 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1345943 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 12223709 ARMCX1 armadillo repeat containing X-linked 1 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1345943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 12223709 ARMCX1 armadillo repeat containing X-linked 1 gene DOID:12849 autistic disorder ISO RGD:1345943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12223709 ARMCX1 armadillo repeat containing X-linked 1 gene DOID:630 genetic disease ISO RGD:1345943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223709 ARMCX1 armadillo repeat containing X-linked 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345943 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12223751 LMAN2L lectin, mannose binding 2 like gene DOID:0081215 autosomal recessive intellectual developmental disorder 52 ISO RGD:1322831 D RGD:7240710 20190315 OMIM 12223751 LMAN2L lectin, mannose binding 2 like gene DOID:0081215 autosomal recessive intellectual developmental disorder 52 ISO RGD:1322831 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 52 PMID:25741868|PMID:26566883 12223751 LMAN2L lectin, mannose binding 2 like gene DOID:1059 intellectual disability ISO RGD:1322831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12223751 LMAN2L lectin, mannose binding 2 like gene DOID:3312 bipolar disorder ISO RGD:1322831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12223751 LMAN2L lectin, mannose binding 2 like gene DOID:4450 renal cell carcinoma ISO RGD:1322831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 12223751 LMAN2L lectin, mannose binding 2 like gene DOID:5419 schizophrenia ISO RGD:1322831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12223751 LMAN2L lectin, mannose binding 2 like gene DOID:630 genetic disease ISO RGD:1322831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223751 LMAN2L lectin, mannose binding 2 like gene DOID:9003904 Autosomal Dominant Intellectual Developmental Disorder 69 ISO RGD:1322831 D RGD:7240710 20220720 OMIM 12223751 LMAN2L lectin, mannose binding 2 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322831 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12223765 RTN4 reticulon 4 gene DOID:11832 visual epilepsy ISO RGD:620989 D RGD:9068941 20200609 RGD PMID:17439704|REF_RGD_ID:2314957 12223765 RTN4 reticulon 4 gene DOID:5419 schizophrenia ISO RGD:730919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20071518 12223765 RTN4 reticulon 4 gene DOID:630 genetic disease ISO RGD:730919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223765 RTN4 reticulon 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12223780 GNMT glycine N-methyltransferase gene DOID:0050444 infantile Refsum disease ISO RGD:732912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:26669662|PMID:27779215|PMID:28492532|PMID:8670792 12223780 GNMT glycine N-methyltransferase gene DOID:0050544 hypermethioninemia ISO RGD:732912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11596649|PMID:11810299 12223780 GNMT glycine N-methyltransferase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:732912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31086990 12223780 GNMT glycine N-methyltransferase gene DOID:0111037 glycine N-methyltransferase deficiency ISO RGD:732912 D RGD:7240710 20180214 OMIM 12223780 GNMT glycine N-methyltransferase gene DOID:0111037 glycine N-methyltransferase deficiency ISO RGD:732912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycine N-methyltransferase deficiency PMID:11596649|PMID:11810299|PMID:14739680|PMID:28492532 12223780 GNMT glycine N-methyltransferase gene DOID:2237 hepatitis ISO RGD:732912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21137059 12223780 GNMT glycine N-methyltransferase gene DOID:630 genetic disease ISO RGD:732912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12223780 GNMT glycine N-methyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:10671 D RGD:9068941 20220825 MouseDO OMIM:114550 12223780 GNMT glycine N-methyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:732912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19146867|PMID:31086990 12223780 GNMT glycine N-methyltransferase gene DOID:9002304 Prostatic Neoplasms ISO RGD:732912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17332283 12223780 GNMT glycine N-methyltransferase gene DOID:9007188 Liver Neoplasms ISO RGD:732912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21137059 12223780 GNMT glycine N-methyltransferase gene DOID:9008510 Chronic Hepatitis ISO RGD:732912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19146867 12223780 GNMT glycine N-methyltransferase gene DOID:905 Zellweger syndrome ISO RGD:732912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:26669662|PMID:27779215|PMID:28492532|PMID:8670792 12223780 GNMT glycine N-methyltransferase gene DOID:9279 hyperhomocysteinemia ISO RGD:732912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16317120 12223790 SMC4 structural maintenance of chromosomes 4 gene DOID:630 genetic disease ISO RGD:1315434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223822 AP1S3 adaptor related protein complex 1 subunit sigma 3 gene DOID:0111281 psoriasis 15 ISO RGD:1323403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Psoriasis 15, pustular, susceptibility to PMID:24033266|PMID:24791904|PMID:25741868|PMID:28887889 12223822 AP1S3 adaptor related protein complex 1 subunit sigma 3 gene DOID:0111281 psoriasis 15 susceptibility ISO RGD:1323403 D RGD:7240710 20190904 OMIM 12223822 AP1S3 adaptor related protein complex 1 subunit sigma 3 gene DOID:630 genetic disease ISO RGD:1323403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223822 AP1S3 adaptor related protein complex 1 subunit sigma 3 gene DOID:8893 psoriasis ISO RGD:1323403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12223822 AP1S3 adaptor related protein complex 1 subunit sigma 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12223830 TIMM8A translocase of inner mitochondrial membrane 8A gene DOID:0050757 deafness-dystonia-optic neuronopathy syndrome ISO RGD:1350353 D RGD:7240710 20180613 OMIM 12223830 TIMM8A translocase of inner mitochondrial membrane 8A gene DOID:0050757 deafness-dystonia-optic neuronopathy syndrome ISO RGD:1350353 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Deafness dystonia syndrome PMID:10878669|PMID:11405816|PMID:11601506|PMID:11803487|PMID:15037720|PMID:15710860|PMID:16411215|PMID:17851739|PMID:17936919|PMID:17999202|PMID:20301395|PMID:24033266|PMID:25741868|PMID:8841189 12223830 TIMM8A translocase of inner mitochondrial membrane 8A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12223830 TIMM8A translocase of inner mitochondrial membrane 8A gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1350353 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 12223830 TIMM8A translocase of inner mitochondrial membrane 8A gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1350353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:11956200|PMID:21984432|PMID:22736418|PMID:28492532|PMID:7711734|PMID:9445504|PMID:9545398 12223830 TIMM8A translocase of inner mitochondrial membrane 8A gene DOID:12849 autistic disorder ISO RGD:1350353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12223830 TIMM8A translocase of inner mitochondrial membrane 8A gene DOID:14499 Fabry disease ISO RGD:1350353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:10666480|PMID:12175777|PMID:28492532 12223830 TIMM8A translocase of inner mitochondrial membrane 8A gene DOID:3910 lung adenocarcinoma ISO RGD:1551300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12223830 TIMM8A translocase of inner mitochondrial membrane 8A gene DOID:543 dystonia ISO RGD:1350353 D RGD:9068941 20200609 RGD DNA:deletion:cds:108delG(human) PMID:11601506|REF_RGD_ID:13209134 12223830 TIMM8A translocase of inner mitochondrial membrane 8A gene DOID:543 dystonia susceptibility ISO RGD:1350353 D RGD:9068941 20200609 RGD DNA:mutation:exon; associated with deafness PMID:11405816|REF_RGD_ID:1600152 12223830 TIMM8A translocase of inner mitochondrial membrane 8A gene DOID:630 genetic disease ISO RGD:1350353 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 12223830 TIMM8A translocase of inner mitochondrial membrane 8A gene DOID:9006205 Animal Disease Models ISO RGD:1551300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12223830 TIMM8A translocase of inner mitochondrial membrane 8A gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1350353 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 12223836 APPL2 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 gene DOID:303 substance-related disorder ISO RGD:1605653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12223836 APPL2 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 gene DOID:630 genetic disease ISO RGD:1605653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223836 APPL2 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12223867 KDR kinase insert domain receptor gene DOID:0001816 angiosarcoma ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 12223867 KDR kinase insert domain receptor gene DOID:0002116 pterygium ISO RGD:731018 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:conjunctiva: PMID:15885787|REF_RGD_ID:8549762 12223867 KDR kinase insert domain receptor gene DOID:0002116 pterygium disease_progression ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:conjunctiva: PMID:23376569|REF_RGD_ID:8549754 12223867 KDR kinase insert domain receptor gene DOID:0050861 colorectal adenocarcinoma severity ISO RGD:731018 D RGD:9068941 20210507 RGD protein:altered phosphorylation:colon PMID:25372416|REF_RGD_ID:126848811 12223867 KDR kinase insert domain receptor gene DOID:0050861 colorectal adenocarcinoma treatment ISO RGD:731018 D RGD:9068941 20210507 RGD PMID:26325365|REF_RGD_ID:11529678 12223867 KDR kinase insert domain receptor gene DOID:0050865 tongue squamous cell carcinoma treatment ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:19380367|REF_RGD_ID:8551769 12223867 KDR kinase insert domain receptor gene DOID:0050904 salivary gland carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20210507 RGD PMID:26498950|REF_RGD_ID:126907998 12223867 KDR kinase insert domain receptor gene DOID:0060108 brain glioma ISO RGD:731018 D RGD:9068941 20220310 RGD protein:increased expression:brain (human) PMID:33900414|REF_RGD_ID:151660356 12223867 KDR kinase insert domain receptor gene DOID:0060180 colitis ISO RGD:2965 D RGD:9068941 20200609 RGD protein:increased expression:colon: PMID:22261574|REF_RGD_ID:7207796 12223867 KDR kinase insert domain receptor gene DOID:0060669 cerebral cavernous malformation ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell: PMID:11220380|REF_RGD_ID:8551824 12223867 KDR kinase insert domain receptor gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell: PMID:11220380|REF_RGD_ID:8551824 12223867 KDR kinase insert domain receptor gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:731018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 12223867 KDR kinase insert domain receptor gene DOID:0080158 herpes simplex virus keratitis ISO RGD:10836 D RGD:9068941 20200609 RGD protein:increased expression:cornea: PMID:16951377|REF_RGD_ID:8549742 12223867 KDR kinase insert domain receptor gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:16951377|REF_RGD_ID:8549742 12223867 KDR kinase insert domain receptor gene DOID:10283 prostate cancer ISO RGD:731018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12223867 KDR kinase insert domain receptor gene DOID:10487 Hirschsprung's disease ISO RGD:731018 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:24728327|PMID:28492532 12223867 KDR kinase insert domain receptor gene DOID:10534 stomach cancer disease_progression ISO RGD:731018 D RGD:9068941 20210507 RGD DNA:SNP: :rs1870377 (human) PMID:30380970|REF_RGD_ID:126907999 12223867 KDR kinase insert domain receptor gene DOID:10534 stomach cancer no_association ISO RGD:731018 D RGD:9068941 20210507 RGD DNA:SNPs: :rs7667298, rs2071559, rs2305948 (human) PMID:30380970|REF_RGD_ID:126907999 12223867 KDR kinase insert domain receptor gene DOID:10763 hypertension ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:15838270|REF_RGD_ID:5684418 12223867 KDR kinase insert domain receptor gene DOID:10763 hypertension treatment ISO RGD:731018 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.H472Q(human) PMID:20630084|REF_RGD_ID:8552374 12223867 KDR kinase insert domain receptor gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:731018 D RGD:9068941 20200609 RGD DNA:SNP: :rs2071559(human) PMID:22919317|REF_RGD_ID:8549752 12223867 KDR kinase insert domain receptor gene DOID:11054 urinary bladder cancer ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:12215294|REF_RGD_ID:2301758 12223867 KDR kinase insert domain receptor gene DOID:11054 urinary bladder cancer severity ISO RGD:731018 D RGD:9068941 20200609 RGD protein::tumor:expression in >50% of non-endothelial cells associated with increased survival (p=0.0119) PMID:12940780|REF_RGD_ID:2291949 12223867 KDR kinase insert domain receptor gene DOID:11132 prostatic hypertrophy ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:15999482|REF_RGD_ID:2292079 12223867 KDR kinase insert domain receptor gene DOID:1115 sarcoma ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:uterus PMID:15823121|REF_RGD_ID:2289964 12223867 KDR kinase insert domain receptor gene DOID:11212 hydrophthalmos ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:22426483|REF_RGD_ID:8549773 12223867 KDR kinase insert domain receptor gene DOID:11382 corneal neovascularization treatment ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:18263815|PMID:21691137|REF_RGD_ID:8549714|REF_RGD_ID:8549755 12223867 KDR kinase insert domain receptor gene DOID:13025 retinopathy of prematurity ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:21731737|REF_RGD_ID:5684426 12223867 KDR kinase insert domain receptor gene DOID:13025 retinopathy of prematurity ISO RGD:2965 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:15039215|REF_RGD_ID:8549753 12223867 KDR kinase insert domain receptor gene DOID:13025 retinopathy of prematurity ISO RGD:731018 D RGD:9068941 20200609 RGD associated with premature birth;protein:increased expression:plasma: PMID:18408080|REF_RGD_ID:8549746 12223867 KDR kinase insert domain receptor gene DOID:13025 retinopathy of prematurity treatment ISO RGD:2965 D RGD:9068941 20221117 RGD PMID:30652694|REF_RGD_ID:155663485 12223867 KDR kinase insert domain receptor gene DOID:13812 adhesions of uterus severity ISO RGD:731018 D RGD:9068941 20210514 RGD mRNA, protein:increased expression:endometrium PMID:31596310|REF_RGD_ID:126925216 12223867 KDR kinase insert domain receptor gene DOID:13812 adhesions of uterus treatment ISO RGD:2965 D RGD:9068941 20210514 RGD PMID:31596310|REF_RGD_ID:126925216 12223867 KDR kinase insert domain receptor gene DOID:1475 lymphangioma ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:;lymphatic endothelial cell: PMID:17584927|REF_RGD_ID:8552338 12223867 KDR kinase insert domain receptor gene DOID:1520 colon carcinoma ISO RGD:731018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon 12223867 KDR kinase insert domain receptor gene DOID:1520 colon carcinoma treatment ISO RGD:10836 D RGD:9068941 20210514 RGD PMID:12415261|REF_RGD_ID:126925192 12223867 KDR kinase insert domain receptor gene DOID:1577 limited scleroderma ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19886888|REF_RGD_ID:8551850 12223867 KDR kinase insert domain receptor gene DOID:1580 diffuse scleroderma ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19886888|REF_RGD_ID:8551850 12223867 KDR kinase insert domain receptor gene DOID:1612 breast cancer ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:tumor:increased activated KDR in mammary carcinomas vs adjacent normal tissues PMID:10371349|REF_RGD_ID:2291951 12223867 KDR kinase insert domain receptor gene DOID:1679 cystitis ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:21412823|REF_RGD_ID:5684428 12223867 KDR kinase insert domain receptor gene DOID:1749 squamous cell carcinoma ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:16251423|REF_RGD_ID:8551848 12223867 KDR kinase insert domain receptor gene DOID:1793 pancreatic cancer ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12385004 12223867 KDR kinase insert domain receptor gene DOID:1793 pancreatic cancer ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:19930156|REF_RGD_ID:5684397 12223867 KDR kinase insert domain receptor gene DOID:1875 impotence ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:16422887|REF_RGD_ID:5684417 12223867 KDR kinase insert domain receptor gene DOID:1909 melanoma ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21730877|REF_RGD_ID:8552360 12223867 KDR kinase insert domain receptor gene DOID:1909 melanoma disease_progression ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression, altered expression:skin: PMID:15714119|REF_RGD_ID:8551851 12223867 KDR kinase insert domain receptor gene DOID:1909 melanoma treatment ISO RGD:10836 D RGD:9068941 20210514 RGD PMID:12415261|REF_RGD_ID:126925192 12223867 KDR kinase insert domain receptor gene DOID:1936 atherosclerosis treatment ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:17303776|REF_RGD_ID:8551768 12223867 KDR kinase insert domain receptor gene DOID:2256 osteochondrodysplasia ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17954590 12223867 KDR kinase insert domain receptor gene DOID:2316 brain ischemia ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:18951929|REF_RGD_ID:5684407 12223867 KDR kinase insert domain receptor gene DOID:2349 arteriosclerosis ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:15665766|REF_RGD_ID:1581706 12223867 KDR kinase insert domain receptor gene DOID:2349 arteriosclerosis ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:16873710|REF_RGD_ID:1581713 12223867 KDR kinase insert domain receptor gene DOID:2526 prostate adenocarcinoma ISO RGD:2965 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:20808233|REF_RGD_ID:5684541 12223867 KDR kinase insert domain receptor gene DOID:2526 prostate adenocarcinoma ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:tumor:relative to benign prostatic hypertrophy (BPH) tissue PMID:17491265|REF_RGD_ID:2291925 12223867 KDR kinase insert domain receptor gene DOID:264 hemangiopericytoma ISO RGD:731018 D RGD:9068941 20221110 RGD mRNA:increased expression:anterior temporal lobe PMID:26951238|REF_RGD_ID:155663351 12223867 KDR kinase insert domain receptor gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:18645275|REF_RGD_ID:2301755 12223867 KDR kinase insert domain receptor gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20200609 RGD transitional cell cancer of the bladder; protein:increased expression:tumor:correlated with stage (p=0.05) and invasion into muscle (p<0.01) PMID:16515971|REF_RGD_ID:2291934 12223867 KDR kinase insert domain receptor gene DOID:2773 contact dermatitis ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:15500639|REF_RGD_ID:5684424 12223867 KDR kinase insert domain receptor gene DOID:2841 asthma ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:20921519|REF_RGD_ID:5684385 12223867 KDR kinase insert domain receptor gene DOID:2841 asthma ISO RGD:731018 D RGD:9068941 20200609 RGD associated with Rhinitis,Allergic,Seasonal;protein:increased expression:nasal cavity of mucosa: PMID:17651148|REF_RGD_ID:8551771 12223867 KDR kinase insert domain receptor gene DOID:289 endometriosis ISO RGD:2965 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:20056215|REF_RGD_ID:5135061 12223867 KDR kinase insert domain receptor gene DOID:299 adenocarcinoma ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 12223867 KDR kinase insert domain receptor gene DOID:3042 allergic contact dermatitis ISO RGD:731018 D RGD:9068941 20200609 RGD mRNA:protein:skin: PMID:7876550|REF_RGD_ID:7421586 12223867 KDR kinase insert domain receptor gene DOID:3068 glioblastoma treatment ISO RGD:731018 D RGD:9068941 20210507 RGD PMID:26325365|REF_RGD_ID:11529678 12223867 KDR kinase insert domain receptor gene DOID:3070 high grade glioma disease_progression ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:20501615|REF_RGD_ID:5684393 12223867 KDR kinase insert domain receptor gene DOID:3070 high grade glioma severity ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:10506722|REF_RGD_ID:5684425 12223867 KDR kinase insert domain receptor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15681497|REF_RGD_ID:5684420 12223867 KDR kinase insert domain receptor gene DOID:3179 inverted papilloma ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:inferior nasal concha: PMID:12541477|REF_RGD_ID:8551779 12223867 KDR kinase insert domain receptor gene DOID:3192 neurilemmoma ISO RGD:731018 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain: PMID:17570036|REF_RGD_ID:8552334 12223867 KDR kinase insert domain receptor gene DOID:3307 teratoma ISO RGD:731018 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 12223867 KDR kinase insert domain receptor gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731018 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:16410746|REF_RGD_ID:1580568 12223867 KDR kinase insert domain receptor gene DOID:3328 temporal lobe epilepsy ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17533168 12223867 KDR kinase insert domain receptor gene DOID:3459 breast carcinoma no_association ISO RGD:731018 D RGD:9068941 20200609 RGD protein::tumor:no correlation with survival, metastasis or relapse in univariate analysis PMID:15753992|REF_RGD_ID:2291952 12223867 KDR kinase insert domain receptor gene DOID:3459 breast carcinoma severity ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:tumor:correlated with nuclear grade of invasive carcinomas (p=0.003) PMID:12378509|REF_RGD_ID:2291950 12223867 KDR kinase insert domain receptor gene DOID:3512 neurofibrosarcoma ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:10554031|REF_RGD_ID:8552377 12223867 KDR kinase insert domain receptor gene DOID:3905 lung carcinoma treatment ISO RGD:10836 D RGD:9068941 20210514 RGD PMID:16763608|PMID:20118536|REF_RGD_ID:126925177|REF_RGD_ID:126925190 12223867 KDR kinase insert domain receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:731018 D RGD:9068941 20210514 RGD protein:increased expression:plasma PMID:21481963|REF_RGD_ID:126925199 12223867 KDR kinase insert domain receptor gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20210507 RGD DNA:CNVs PMID:21724587|REF_RGD_ID:126908001 12223867 KDR kinase insert domain receptor gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20210514 RGD PMID:16697074|REF_RGD_ID:126925189 12223867 KDR kinase insert domain receptor gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20210514 RGD DNA, protein:CNVs, increased expression:lung PMID:25561764|REF_RGD_ID:126925188 12223867 KDR kinase insert domain receptor gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20210514 RGD DNA:SNP:promoter:���906T>C (rs2071559) (human) PMID:25975224|REF_RGD_ID:126925198 12223867 KDR kinase insert domain receptor gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:10836 D RGD:9068941 20210514 RGD PMID:12415261|REF_RGD_ID:126925192 12223867 KDR kinase insert domain receptor gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:731018 D RGD:9068941 20220310 RGD PMID:32626543|REF_RGD_ID:151665104 12223867 KDR kinase insert domain receptor gene DOID:418 systemic scleroderma ISO RGD:731018 D RGD:9068941 20200609 RGD protein:decreased expression:bone marrow: PMID:22271757|REF_RGD_ID:8551843 12223867 KDR kinase insert domain receptor gene DOID:418 systemic scleroderma ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:21865112|REF_RGD_ID:8552335 12223867 KDR kinase insert domain receptor gene DOID:4448 macular degeneration ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:21731737|REF_RGD_ID:5684426 12223867 KDR kinase insert domain receptor gene DOID:4448 macular degeneration treatment ISO RGD:731018 D RGD:9068941 20200609 RGD DNA:SNPs:: rs4576072,rs6828477(human) PMID:24365177|REF_RGD_ID:8549717 12223867 KDR kinase insert domain receptor gene DOID:4449 macular retinal edema ISO RGD:731018 D RGD:9068941 20200609 RGD associated with retinal vein occlusion;protein:increased expression:vitreous humor PMID:23411880|REF_RGD_ID:8549772 12223867 KDR kinase insert domain receptor gene DOID:4450 renal cell carcinoma ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:17332933|PMID:17653245|REF_RGD_ID:2301756|REF_RGD_ID:8552363 12223867 KDR kinase insert domain receptor gene DOID:4450 renal cell carcinoma treatment ISO RGD:10836 D RGD:9068941 20210514 RGD PMID:16763608|REF_RGD_ID:126925190 12223867 KDR kinase insert domain receptor gene DOID:4511 breast angiosarcoma ISO RGD:731018 D RGD:9068941 20220310 RGD DNA:mutation:multiple (human) PMID:32123305|REF_RGD_ID:151665102 12223867 KDR kinase insert domain receptor gene DOID:4676 uremia ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 12223867 KDR kinase insert domain receptor gene DOID:4905 pancreatic carcinoma treatment ISO RGD:731018 D RGD:9068941 20210507 RGD PMID:17414626|REF_RGD_ID:126848809 12223867 KDR kinase insert domain receptor gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:731018 D RGD:9068941 20210521 RGD DNA:SNP:5'utr: (rs11941492) (human) PMID:21472143|REF_RGD_ID:126925218 12223867 KDR kinase insert domain receptor gene DOID:5082 liver cirrhosis disease_progression ISO RGD:731018 D RGD:9068941 20210507 RGD associated with Chronic Hepatitis PMID:27323788|REF_RGD_ID:126908000 12223867 KDR kinase insert domain receptor gene DOID:5419 schizophrenia ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21647420 12223867 KDR kinase insert domain receptor gene DOID:5425 ovarian hyperstimulation syndrome treatment ISO RGD:2965 D RGD:9068941 20210514 RGD PMID:25151950|REF_RGD_ID:126925217 12223867 KDR kinase insert domain receptor gene DOID:5426 primary ovarian insufficiency ISO RGD:731018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:24728327|PMID:25741868 12223867 KDR kinase insert domain receptor gene DOID:5844 myocardial infarction ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:16698275|REF_RGD_ID:1581717 12223867 KDR kinase insert domain receptor gene DOID:5844 myocardial infarction treatment ISO RGD:2965 D RGD:9068941 20210514 RGD PMID:25936512|REF_RGD_ID:126925214 12223867 KDR kinase insert domain receptor gene DOID:6039 uveal melanoma disease_progression ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:21984395|REF_RGD_ID:8549718 12223867 KDR kinase insert domain receptor gene DOID:630 genetic disease ISO RGD:731018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12223867 KDR kinase insert domain receptor gene DOID:684 hepatocellular carcinoma ISO RGD:731018 D RGD:9068941 20210507 RGD associated with alcoholic liver cirrhosis;DNA:SNP: :1416A>T (human) PMID:24445728|REF_RGD_ID:126848814 12223867 KDR kinase insert domain receptor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20210507 RGD protein:decreased expression:liver PMID:25333267|REF_RGD_ID:126848812 12223867 KDR kinase insert domain receptor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20210507 RGD protein:increased expression:liver PMID:19177438|REF_RGD_ID:126848810 12223867 KDR kinase insert domain receptor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731018 D RGD:9068941 20210507 RGD PMID:23660204|REF_RGD_ID:126848813 12223867 KDR kinase insert domain receptor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731018 D RGD:9068941 20210507 RGD DNA:SNPs: :rs1870377, rs2071559, rs2305948 (human) PMID:25182707|REF_RGD_ID:126848806 12223867 KDR kinase insert domain receptor gene DOID:687 hepatoblastoma ISO RGD:731018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 12223867 KDR kinase insert domain receptor gene DOID:7736 retinal telangiectasia ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression,increased phosphorylation:eye: PMID:23221067|REF_RGD_ID:8549759 12223867 KDR kinase insert domain receptor gene DOID:8577 ulcerative colitis ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:19013462|REF_RGD_ID:5684406 12223867 KDR kinase insert domain receptor gene DOID:8717 decubitus ulcer ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:12692851|REF_RGD_ID:8551845 12223867 KDR kinase insert domain receptor gene DOID:8778 Crohn's disease ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:19013462|REF_RGD_ID:5684406 12223867 KDR kinase insert domain receptor gene DOID:8893 psoriasis ISO RGD:731018 D RGD:9068941 20200609 RGD mRNA:increased expression:skin: PMID:20071151|REF_RGD_ID:8552376 12223867 KDR kinase insert domain receptor gene DOID:8893 psoriasis treatment ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:23732650|REF_RGD_ID:8552361 12223867 KDR kinase insert domain receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2965 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord, astrocyte, macrophage PMID:17409380|REF_RGD_ID:5684414 12223867 KDR kinase insert domain receptor gene DOID:9000081 Lymphatic Metastasis treatment ISO RGD:10836 D RGD:9068941 20200609 RGD associated with Squamous Cell Carcinoma of the Tongue PMID:19380367|REF_RGD_ID:8551769 12223867 KDR kinase insert domain receptor gene DOID:9000099 Experimental Colitis ISO RGD:10836 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:19013462|REF_RGD_ID:5684406 12223867 KDR kinase insert domain receptor gene DOID:9000117 Esophageal Neoplasms ISO RGD:731018 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:21472143|PMID:35917945 12223867 KDR kinase insert domain receptor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:19888452|REF_RGD_ID:5684399 12223867 KDR kinase insert domain receptor gene DOID:9000528 Coronary Disease ISO RGD:731018 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ventricle myocardium PMID:16139132|REF_RGD_ID:2313728 12223867 KDR kinase insert domain receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:731018 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell PMID:17465216|REF_RGD_ID:2301757 12223867 KDR kinase insert domain receptor gene DOID:9000998 Brain Injuries ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:19733172|REF_RGD_ID:5684402 12223867 KDR kinase insert domain receptor gene DOID:9000998 Brain Injuries ISO RGD:2965 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:21307798|REF_RGD_ID:5684382 12223867 KDR kinase insert domain receptor gene DOID:9001044 Choroidal Neovascularization ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:22997228|REF_RGD_ID:8549738 12223867 KDR kinase insert domain receptor gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:19085383|REF_RGD_ID:8549713 12223867 KDR kinase insert domain receptor gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:12937991|PMID:15249365|REF_RGD_ID:8549716|REF_RGD_ID:8549747 12223867 KDR kinase insert domain receptor gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:18436847|REF_RGD_ID:8549741 12223867 KDR kinase insert domain receptor gene DOID:9001472 Nasal Polyps ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:inferior nasal concha: PMID:12515274|REF_RGD_ID:8551781 12223867 KDR kinase insert domain receptor gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11956651 12223867 KDR kinase insert domain receptor gene DOID:9001795 Lathyrism ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:20058324|REF_RGD_ID:5684396 12223867 KDR kinase insert domain receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18630688 12223867 KDR kinase insert domain receptor gene DOID:9002189 High Myopia ISO RGD:731018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe Myopia PMID:26422291|PMID:28492532 12223867 KDR kinase insert domain receptor gene DOID:9002265 Kidney Neoplasms ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:12036917|REF_RGD_ID:2301759 12223867 KDR kinase insert domain receptor gene DOID:9002676 Cerebral Hemorrhage ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17888890 12223867 KDR kinase insert domain receptor gene DOID:9002762 Ovarian Neoplasms ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:epithelial ovarian carcinoma cells PMID:16835828|REF_RGD_ID:2291926 12223867 KDR kinase insert domain receptor gene DOID:9002762 Ovarian Neoplasms ISO RGD:731018 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35917945 12223867 KDR kinase insert domain receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:19233483|REF_RGD_ID:5684404 12223867 KDR kinase insert domain receptor gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:17349140|REF_RGD_ID:8549715 12223867 KDR kinase insert domain receptor gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:15951738|REF_RGD_ID:1581593 12223867 KDR kinase insert domain receptor gene DOID:9002928 Colonic Neoplasms ISO RGD:10836 D RGD:9068941 20200609 RGD associated with Colitis;mRNA, protein:increased expression:colon PMID:21098094|REF_RGD_ID:5684533 12223867 KDR kinase insert domain receptor gene DOID:9003204 Neovascularization, Pathologic ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17533168 12223867 KDR kinase insert domain receptor gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:11218896|REF_RGD_ID:2301761 12223867 KDR kinase insert domain receptor gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:21277350|REF_RGD_ID:5684383 12223867 KDR kinase insert domain receptor gene DOID:9003871 Venous Thrombosis ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26600200 12223867 KDR kinase insert domain receptor gene DOID:9004009 Reperfusion Injury ISO RGD:2965 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:17402857|REF_RGD_ID:5684415 12223867 KDR kinase insert domain receptor gene DOID:9004009 Reperfusion Injury ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 12223867 KDR kinase insert domain receptor gene DOID:9004059 Eye Neoplasms ISO RGD:731018 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35917945 12223867 KDR kinase insert domain receptor gene DOID:9004090 Tufted Angioma ISO RGD:731018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tufted angioma PMID:26422291|PMID:28492532 12223867 KDR kinase insert domain receptor gene DOID:9004265 Endometrioid Carcinomas severity ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:tumor:pKDR expression associated with poor overall survival (P=0.009) PMID:16557278|REF_RGD_ID:2291929 12223867 KDR kinase insert domain receptor gene DOID:9004283 Transplant Rejection ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:22997228|REF_RGD_ID:8549738 12223867 KDR kinase insert domain receptor gene DOID:9004610 Acute Lung Injury ISO RGD:2965 D RGD:9068941 20200609 RGD associated with Endotoxemia;mRNA, protein:decreased expression:lung PMID:21528367|REF_RGD_ID:5684427 12223867 KDR kinase insert domain receptor gene DOID:9005172 Lung Neoplasms ISO RGD:731018 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35917945 12223867 KDR kinase insert domain receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2965 D RGD:9068941 20200609 RGD inhibition prevents DMBA-induced atypical ductal hyperplasia and carcinoma in situ PMID:15170218|REF_RGD_ID:2291936 12223867 KDR kinase insert domain receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:19888452|REF_RGD_ID:5684399 12223867 KDR kinase insert domain receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10836 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:16816123|REF_RGD_ID:2313725 12223867 KDR kinase insert domain receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2965 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:16741021|REF_RGD_ID:2313724 12223867 KDR kinase insert domain receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2965 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:22121831|REF_RGD_ID:5684538 12223867 KDR kinase insert domain receptor gene DOID:9005708 Hand-Foot Syndrome treatment ISO RGD:731018 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.H472Q(human) PMID:20630084|REF_RGD_ID:8552374 12223867 KDR kinase insert domain receptor gene DOID:9005968 Neuralgia ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:20705122|REF_RGD_ID:5684389 12223867 KDR kinase insert domain receptor gene DOID:9007096 Stroke ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:20101028|REF_RGD_ID:5684395 12223867 KDR kinase insert domain receptor gene DOID:9007102 Myocardial Ischemia ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12223867 KDR kinase insert domain receptor gene DOID:9007715 Endometrial Neoplasms ISO RGD:731018 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:12485477|REF_RGD_ID:2301252 12223867 KDR kinase insert domain receptor gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:11745191|REF_RGD_ID:2301760 12223867 KDR kinase insert domain receptor gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity of mucosa: PMID:17651148|REF_RGD_ID:8551771 12223867 KDR kinase insert domain receptor gene DOID:9008443 Colorectal Neoplasms ISO RGD:731018 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20346928|PMID:35917945 12223867 KDR kinase insert domain receptor gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:731018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY PMID:11807987|PMID:18931684|PMID:24033266|PMID:24728327 12223867 KDR kinase insert domain receptor gene DOID:9008660 Infantile Capillary Hemangioma susceptibility ISO RGD:731018 D RGD:7240710 20230517 OMIM 12223867 KDR kinase insert domain receptor gene DOID:9008821 Otitis Media with Effusion ISO RGD:2965 D RGD:9068941 20200609 RGD mRNA:increased expression:mucosa of the middle ear; PMID:12875575|REF_RGD_ID:8547977 12223867 KDR kinase insert domain receptor gene DOID:9008939 Breast Neoplasms ISO RGD:731018 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:20135347|PMID:35917945 12223867 KDR kinase insert domain receptor gene DOID:9008939 Breast Neoplasms treatment ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:14511401|REF_RGD_ID:8551844 12223867 KDR kinase insert domain receptor gene DOID:9256 colorectal cancer no_association ISO RGD:731018 D RGD:9068941 20210507 RGD DNA:SNPs:exons:rs1870377, rs2305948 (human) PMID:22182247|REF_RGD_ID:126848807 12223867 KDR kinase insert domain receptor gene DOID:9256 colorectal cancer treatment ISO RGD:731018 D RGD:9068941 20210507 RGD DNA:SNPs:promoter:rs10013228, rs2071559 (human) PMID:22182247|REF_RGD_ID:126848807 12223867 KDR kinase insert domain receptor gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20210514 RGD PMID:16480593|REF_RGD_ID:126925191 12223867 KDR kinase insert domain receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:731018 D RGD:9068941 20200609 RGD protein:decreased expression:skin, blood vessel PMID:17898089|REF_RGD_ID:5684411 12223899 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:10316 pneumoconiosis ISO RGD:731607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 12223899 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:11832 visual epilepsy ISO RGD:3455 D RGD:9068941 20200609 RGD PMID:14637091|REF_RGD_ID:9589824 12223899 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:1824 status epilepticus ISO RGD:3455 D RGD:9068941 20200609 RGD PMID:10582521|REF_RGD_ID:9589822 12223899 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:3455 D RGD:9068941 20200609 RGD PMID:25113670|REF_RGD_ID:9590123 12223899 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:3328 temporal lobe epilepsy ISO RGD:3455 D RGD:9068941 20200609 RGD PMID:11292447|REF_RGD_ID:9589829 12223899 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:3525 middle cerebral artery infarction ISO RGD:3455 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:15869933|REF_RGD_ID:9590118 12223899 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:3717 gastric adenocarcinoma ISO RGD:731607 D RGD:9068941 20220304 RGD associated with metastasis; protein:increased expression:gastric mucosa (human) PMID:16338072|REF_RGD_ID:151660348 12223899 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12223899 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:630 genetic disease ISO RGD:731607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223899 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3455 D RGD:9068941 20200609 RGD PMID:12895450|REF_RGD_ID:9590113 12223899 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:3455 D RGD:9068941 20200609 RGD PMID:15016081|PMID:18065151|REF_RGD_ID:9589823|REF_RGD_ID:9590124 12223899 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:9000998 Brain Injuries ISO RGD:3455 D RGD:9068941 20200609 RGD PMID:12088737|REF_RGD_ID:727637 12223899 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:9002189 High Myopia ISO RGD:731607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12223899 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:9002598 Spastic Paraparesis ISO RGD:731607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraparesis PMID:25741868 12223899 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:3455 D RGD:9068941 20200609 RGD PMID:16041802|REF_RGD_ID:9590116 12223899 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:9003740 Nerve Injuries ISO RGD:3455 D RGD:9068941 20200609 RGD mRNA:increased expression:sciatic nerve PMID:9748513|REF_RGD_ID:9589118 12223899 PTPRZ1 protein tyrosine phosphatase receptor type Z1 gene DOID:9008114 Helicobacter Infections ISO RGD:731607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17030583 12223934 GDA guanine deaminase gene DOID:10534 stomach cancer ISO RGD:734048 D RGD:9068941 20220616 RGD protein:increased expression:stomach: PMID:8076377|REF_RGD_ID:152995290 12223934 GDA guanine deaminase gene DOID:305 carcinoma ISO RGD:734048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12223934 GDA guanine deaminase gene DOID:630 genetic disease ISO RGD:734048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223934 GDA guanine deaminase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:734048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12223934 GDA guanine deaminase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12223934 GDA guanine deaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12223955 OR2D3 olfactory receptor family 2 subfamily D member 3 gene DOID:630 genetic disease ISO RGD:1354348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223958 TFAP2C transcription factor AP-2 gamma gene DOID:10907 microcephaly ISO RGD:1346626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12223958 TFAP2C transcription factor AP-2 gamma gene DOID:630 genetic disease ISO RGD:1346626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223958 TFAP2C transcription factor AP-2 gamma gene DOID:9000217 Stomach Neoplasms ISO RGD:1346626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12223972 MLF2 myeloid leukemia factor 2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1314832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12223972 MLF2 myeloid leukemia factor 2 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1314832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12223972 MLF2 myeloid leukemia factor 2 gene DOID:0111621 Temtamy syndrome ISO RGD:1314832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12223972 MLF2 myeloid leukemia factor 2 gene DOID:630 genetic disease ISO RGD:1314832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12223972 MLF2 myeloid leukemia factor 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1314832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12223985 CPXM2 carboxypeptidase X, M14 family member 2 gene DOID:3007 breast ductal carcinoma ISO RGD:1345488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12223985 CPXM2 carboxypeptidase X, M14 family member 2 gene DOID:630 genetic disease ISO RGD:1345488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224012 SLC30A5 solute carrier family 30 member 5 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1315825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:33547425 12224012 SLC30A5 solute carrier family 30 member 5 gene DOID:630 genetic disease ISO RGD:1315825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224012 SLC30A5 solute carrier family 30 member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12224012 SLC30A5 solute carrier family 30 member 5 gene DOID:9007001 Bradycardia ISO RGD:1315826 D RGD:9068941 20200609 RGD PMID:12095919|REF_RGD_ID:1580628 12224032 PITX2 paired like homeodomain 2 gene DOID:0050647 Arts syndrome ISO RGD:731390 D RGD:9068941 20200609 RGD DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) PMID:17701896|REF_RGD_ID:12910562 12224032 PITX2 paired like homeodomain 2 gene DOID:0050786 iridogoniodysgenesis syndrome ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Iridogoniodysgenesis syndrome PMID:25741868|PMID:28492532 12224032 PITX2 paired like homeodomain 2 gene DOID:0060224 atrial fibrillation ISO RGD:731390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12224032 PITX2 paired like homeodomain 2 gene DOID:0060648 anterior segment dysgenesis ISO RGD:731390 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:15591271|PMID:25741868|PMID:32499604|PMID:35882526|PMID:7581385|PMID:9437321 12224032 PITX2 paired like homeodomain 2 gene DOID:0060673 Peters anomaly ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:15378534|PMID:25741868|PMID:26220699|PMID:28492532 12224032 PITX2 paired like homeodomain 2 gene DOID:0080606 anterior segment dysgenesis 1 ISO RGD:731390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 1 PMID:15378534|PMID:25741868|PMID:26220699|PMID:28492532 12224032 PITX2 paired like homeodomain 2 gene DOID:0080609 anterior segment dysgenesis 4 ISO RGD:731390 D RGD:7240710 20180130 OMIM 12224032 PITX2 paired like homeodomain 2 gene DOID:0080609 anterior segment dysgenesis 4 ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 4 | ClinVar Annotator: match by term: Iris hypoplasia with early onset glaucoma, autosomal dominant PMID:25741868|PMID:28492532|PMID:32499604|PMID:7581385|PMID:8942889|PMID:9437321|PMID:9618168 12224032 PITX2 paired like homeodomain 2 gene DOID:0080610 anterior segment dysgenesis 5 ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 PMID:15378534|PMID:25741868|PMID:26220699|PMID:28492532 12224032 PITX2 paired like homeodomain 2 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:731390 D RGD:7240710 20180130 OMIM 12224032 PITX2 paired like homeodomain 2 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 PMID:10051017|PMID:10490637|PMID:11301317|PMID:11487566|PMID:12130547|PMID:12381896|PMID:12612071|PMID:15378534|PMID:15591271|PMID:15728254|PMID:15895993|PMID:16389592|PMID:16498627|PMID:16936096|PMID:17167399|PMID:17576681|PMID:18045789|PMID:18723525|PMID:19052653|PMID:19218601|PMID:19513095|PMID:20881294|PMID:22224469|PMID:22569110|PMID:24604414|PMID:25741868|PMID:26220699|PMID:28492532|PMID:28611552|PMID:28730073|PMID:29100920|PMID:29506241|PMID:30457409|PMID:31529555|PMID:32499604|PMID:33304895|PMID:33492563|PMID:35882526|PMID:8944018|PMID:9536098|PMID:9685346 12224032 PITX2 paired like homeodomain 2 gene DOID:0111548 ring dermoid of cornea ISO RGD:731390 D RGD:7240710 20180130 OMIM 12224032 PITX2 paired like homeodomain 2 gene DOID:0111548 ring dermoid of cornea ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ring dermoid of cornea PMID:15378534|PMID:15591271|PMID:25741868|PMID:26220699|PMID:28492532|PMID:32499604|PMID:35882526 12224032 PITX2 paired like homeodomain 2 gene DOID:10283 prostate cancer ISO RGD:731390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12224032 PITX2 paired like homeodomain 2 gene DOID:1459 hypothyroidism ISO RGD:3331 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:ovary, granulosa cell PMID:17982271|REF_RGD_ID:5131997 12224032 PITX2 paired like homeodomain 2 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:731390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome | ClinVar Annotator: match by term: Rieger anomaly PMID:25741868 12224032 PITX2 paired like homeodomain 2 gene DOID:1681 heart septal defect ISO RGD:731391 D RGD:9068941 20200609 RGD PMID:23361844|REF_RGD_ID:12910561 12224032 PITX2 paired like homeodomain 2 gene DOID:1682 congenital heart disease ISO RGD:731390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10499585 12224032 PITX2 paired like homeodomain 2 gene DOID:1686 glaucoma ISO RGD:731391 D RGD:9068941 20220825 MouseDO 12224032 PITX2 paired like homeodomain 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:731390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 12224032 PITX2 paired like homeodomain 2 gene DOID:3910 lung adenocarcinoma ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 12224032 PITX2 paired like homeodomain 2 gene DOID:630 genetic disease ISO RGD:731390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15895993|PMID:25741868|PMID:28492532|PMID:35882526|PMID:8944018 12224032 PITX2 paired like homeodomain 2 gene DOID:674 cleft palate ISO RGD:731391 D RGD:9068941 20200609 RGD PMID:12975342|REF_RGD_ID:12910559 12224032 PITX2 paired like homeodomain 2 gene DOID:83 cataract ISO RGD:731390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:15378534|PMID:25741868|PMID:26220699|PMID:28166811|PMID:28492532 12224032 PITX2 paired like homeodomain 2 gene DOID:83 cataract ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cataract PMID:15378534|PMID:25741868|PMID:26220699|PMID:28492532 12224032 PITX2 paired like homeodomain 2 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:3331 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:20926632|REF_RGD_ID:5131995 12224032 PITX2 paired like homeodomain 2 gene DOID:9000045 De Hauwere syndrome ISO RGD:731390 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities PMID:25741868 12224032 PITX2 paired like homeodomain 2 gene DOID:9005162 Familial Atrial Fibrillation 1 ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ATFB1 PMID:28492532 12224032 PITX2 paired like homeodomain 2 gene DOID:9007096 Stroke ISO RGD:731390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 12224032 PITX2 paired like homeodomain 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:731390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10499585|PMID:14623826 12224032 PITX2 paired like homeodomain 2 gene DOID:9009007 Tooth Abnormalities ISO RGD:731390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10499585 12224045 DGKG diacylglycerol kinase gamma gene DOID:630 genetic disease ISO RGD:733742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224084 CPEB2 cytoplasmic polyadenylation element binding protein 2 gene DOID:630 genetic disease ISO RGD:1316707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224114 CCKAR cholecystokinin A receptor gene DOID:10211 cholelithiasis ISO RGD:731770 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; mRNA:decreased expression:gallbladder,smooth muscle PMID:15908333|REF_RGD_ID:2314139 12224114 CCKAR cholecystokinin A receptor gene DOID:1574 alcohol use disorder ISO RGD:731770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9922984 12224114 CCKAR cholecystokinin A receptor gene DOID:1793 pancreatic cancer ISO RGD:2289 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:8222074|REF_RGD_ID:4110822 12224114 CCKAR cholecystokinin A receptor gene DOID:1793 pancreatic cancer ISO RGD:731770 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:10457335|REF_RGD_ID:4110817 12224114 CCKAR cholecystokinin A receptor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:731770 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreatic duct PMID:9239407|REF_RGD_ID:4110818 12224114 CCKAR cholecystokinin A receptor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:731770 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:12851875|REF_RGD_ID:4110816 12224114 CCKAR cholecystokinin A receptor gene DOID:630 genetic disease ISO RGD:731770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224114 CCKAR cholecystokinin A receptor gene DOID:9000011 Gallbladder Neoplasms ISO RGD:731770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25025063 12224114 CCKAR cholecystokinin A receptor gene DOID:9003126 Hallucinations ISO RGD:731770 D RGD:9068941 20200609 RGD associated with Parkinson Disease;DNA:polymorphism, haplotype: :779T>C (human) PMID:12777967|REF_RGD_ID:1625802 12224114 CCKAR cholecystokinin A receptor gene DOID:9003126 Hallucinations ISO RGD:731770 D RGD:9068941 20200609 RGD associated with Schizophrenia PMID:10572328|REF_RGD_ID:1358451 12224114 CCKAR cholecystokinin A receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:2289 D RGD:9068941 20200609 RGD DNA:deletion PMID:16815799|REF_RGD_ID:1625200 12224114 CCKAR cholecystokinin A receptor gene DOID:9970 obesity ISO RGD:2289 D RGD:9068941 20200609 RGD DNA:deletion PMID:9530226|REF_RGD_ID:7257724 12224114 CCKAR cholecystokinin A receptor gene DOID:9970 obesity ISO RGD:731770 D RGD:9068941 20200609 RGD PMID:9192855|REF_RGD_ID:734711 12224121 LCP2 lymphocyte cytosolic protein 2 gene DOID:630 genetic disease ISO RGD:732713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224121 LCP2 lymphocyte cytosolic protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12224121 LCP2 lymphocyte cytosolic protein 2 gene DOID:9008093 Immunodeficiency 81 ISO RGD:732713 D RGD:7240710 20210707 OMIM 12224121 LCP2 lymphocyte cytosolic protein 2 gene DOID:9008093 Immunodeficiency 81 ISO RGD:732713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 81 PMID:25741868|PMID:33231617 12224146 MPDU1 mannose-P-dolichol utilization defect 1 gene DOID:0050570 congenital disorder of glycosylation type I ISO RGD:1317039 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type I PMID:11733564|PMID:28492532 12224146 MPDU1 mannose-P-dolichol utilization defect 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1317039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12224146 MPDU1 mannose-P-dolichol utilization defect 1 gene DOID:0080558 congenital disorder of glycosylation If ISO RGD:1317039 D RGD:7240710 20180130 OMIM 12224146 MPDU1 mannose-P-dolichol utilization defect 1 gene DOID:0080558 congenital disorder of glycosylation If ISO RGD:1317039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1F PMID:11733556|PMID:11733564|PMID:16199547|PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532|PMID:28940310 12224146 MPDU1 mannose-P-dolichol utilization defect 1 gene DOID:0080600 COVID-19 ISO RGD:1317039 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12224146 MPDU1 mannose-P-dolichol utilization defect 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1317039 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12224146 MPDU1 mannose-P-dolichol utilization defect 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1317039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12224146 MPDU1 mannose-P-dolichol utilization defect 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1317039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12224146 MPDU1 mannose-P-dolichol utilization defect 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1317039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12224146 MPDU1 mannose-P-dolichol utilization defect 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1317039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 12224146 MPDU1 mannose-P-dolichol utilization defect 1 gene DOID:630 genetic disease ISO RGD:1317039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532 12224157 ZBTB1 zinc finger and BTB domain containing 1 gene DOID:630 genetic disease ISO RGD:1343689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224175 CCDC103 coiled-coil domain containing 103 gene DOID:0050144 Kartagener syndrome ISO RGD:1602038 D RGD:9068941 20221013 CTD CTD Direct Evidence: marker/mechanism PMID:22581229 12224175 CCDC103 coiled-coil domain containing 103 gene DOID:0110621 primary ciliary dyskinesia 17 ISO RGD:1602038 D RGD:7240710 20180130 OMIM 12224175 CCDC103 coiled-coil domain containing 103 gene DOID:0110621 primary ciliary dyskinesia 17 ISO RGD:1602038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 17 PMID:22581229|PMID:23891469|PMID:24033266|PMID:24357714|PMID:25326635|PMID:25741868|PMID:26123568|PMID:27637300|PMID:28492532|PMID:28790179|PMID:30067075 12224175 CCDC103 coiled-coil domain containing 103 gene DOID:5223 infertility ISO RGD:1602038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infertility PMID:22581229|PMID:23891469|PMID:24033266|PMID:24357714|PMID:25326635|PMID:25741868|PMID:26123568|PMID:27637300|PMID:28492532|PMID:28790179|PMID:30067075 12224175 CCDC103 coiled-coil domain containing 103 gene DOID:630 genetic disease ISO RGD:1602038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224175 CCDC103 coiled-coil domain containing 103 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1602038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:17576681|PMID:22581229|PMID:23891469|PMID:24033266|PMID:24357714|PMID:25326635|PMID:25741868|PMID:26123568|PMID:27637300|PMID:28492532|PMID:28790179|PMID:30067075|PMID:9536098 12224191 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0050585 congenital generalized lipodystrophy ISO RGD:1319453 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital generalized lipodystrophy PMID:19226263|PMID:24498038|PMID:25741868 12224191 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0050777 Joubert syndrome ISO RGD:1319453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12224191 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1319453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12224191 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1319453 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12224191 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1319453 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12224191 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12224191 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1319453 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12224191 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12224191 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319453 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12224191 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0080600 COVID-19 ISO RGD:1319453 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12224191 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1319453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12224191 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0111135 congenital generalized lipodystrophy type 1 ISO RGD:1319453 D RGD:7240710 20180314 OMIM 12224191 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0111135 congenital generalized lipodystrophy type 1 ISO RGD:1319453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 1 PMID:11967537|PMID:12765973|PMID:14557463|PMID:14715872|PMID:15181077|PMID:15629135|PMID:18414213|PMID:18640396|PMID:19026526|PMID:21744063|PMID:22831748|PMID:24498038|PMID:25195639|PMID:25741868|PMID:26072926|PMID:26336158|PMID:27144933|PMID:28492532|PMID:30319454|PMID:32117065 12224191 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:10283 prostate cancer ISO RGD:1319453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12224191 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:1826 epilepsy ISO RGD:1319453 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12224191 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:3652 Leigh disease ISO RGD:1319453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12224191 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:630 genetic disease ISO RGD:1319453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12224191 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:811 lipodystrophy susceptibility ISO RGD:1319453 D RGD:9068941 20200609 RGD PMID:11967537|REF_RGD_ID:1598785 12224191 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1319453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12224191 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:9351 diabetes mellitus ISO RGD:1319453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:22831748|PMID:25741868|PMID:26336158|PMID:28492532|PMID:30319454 12224204 RPS6KA6 ribosomal protein S6 kinase A6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12224204 RPS6KA6 ribosomal protein S6 kinase A6 gene DOID:12849 autistic disorder ISO RGD:1350176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12224204 RPS6KA6 ribosomal protein S6 kinase A6 gene DOID:630 genetic disease ISO RGD:1350176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224231 HSD17B8 hydroxysteroid 17-beta dehydrogenase 8 gene DOID:0050553 JMP syndrome ISO RGD:1351353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12224231 HSD17B8 hydroxysteroid 17-beta dehydrogenase 8 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1351353 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 12224231 HSD17B8 hydroxysteroid 17-beta dehydrogenase 8 gene DOID:630 genetic disease ISO RGD:1351353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224251 UBAC2 UBA domain containing 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1323278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 12224251 UBAC2 UBA domain containing 2 gene DOID:14701 propionic acidemia ISO RGD:1323278 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 12224251 UBAC2 UBA domain containing 2 gene DOID:4621 holoprosencephaly ISO RGD:1323278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 12224251 UBAC2 UBA domain containing 2 gene DOID:630 genetic disease ISO RGD:1323278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224251 UBAC2 UBA domain containing 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1323278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12224264 CATSPER2 cation channel sperm associated 2 gene DOID:0070173 spermatogenic failure 7 ISO RGD:1316921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12224264 CATSPER2 cation channel sperm associated 2 gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1316921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 16 PMID:11687802|PMID:21681106|PMID:25741868|PMID:26011646 12224264 CATSPER2 cation channel sperm associated 2 gene DOID:12336 male infertility ISO RGD:1316921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 12224264 CATSPER2 cation channel sperm associated 2 gene DOID:2717 Bloom syndrome ISO RGD:1316921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12224264 CATSPER2 cation channel sperm associated 2 gene DOID:5223 infertility ISO RGD:1316921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infertility 12224264 CATSPER2 cation channel sperm associated 2 gene DOID:630 genetic disease ISO RGD:1316921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224264 CATSPER2 cation channel sperm associated 2 gene DOID:9002477 Sensorineural Deafness and Male Infertility ISO RGD:1316921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness-infertility syndrome PMID:19344877|PMID:24033266|PMID:25741868 12224264 CATSPER2 cation channel sperm associated 2 gene DOID:9004538 Hearing Loss ISO RGD:1316921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment 12224264 CATSPER2 cation channel sperm associated 2 gene DOID:9256 colorectal cancer ISO RGD:1316921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12224287 SLC16A8 solute carrier family 16 member 8 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:736227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12224287 SLC16A8 solute carrier family 16 member 8 gene DOID:0080600 COVID-19 ISO RGD:736227 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12224287 SLC16A8 solute carrier family 16 member 8 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:736227 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12224287 SLC16A8 solute carrier family 16 member 8 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:736227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12224287 SLC16A8 solute carrier family 16 member 8 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:736227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12224287 SLC16A8 solute carrier family 16 member 8 gene DOID:4448 macular degeneration ISO RGD:736227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26691988 12224287 SLC16A8 solute carrier family 16 member 8 gene DOID:630 genetic disease ISO RGD:736227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224295 RTN4RL2 reticulon 4 receptor like 2 gene DOID:1059 intellectual disability ISO RGD:1344970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12224295 RTN4RL2 reticulon 4 receptor like 2 gene DOID:630 genetic disease ISO RGD:1344970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224303 UBC ubiquitin C gene DOID:0080600 COVID-19 ISO RGD:1346853 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12224303 UBC ubiquitin C gene DOID:630 genetic disease ISO RGD:1346853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224309 TIMM29 translocase of inner mitochondrial membrane 29 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1602195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12224309 TIMM29 translocase of inner mitochondrial membrane 29 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1602195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12224309 TIMM29 translocase of inner mitochondrial membrane 29 gene DOID:0111254 glutaric acidemia I ISO RGD:1602195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12224309 TIMM29 translocase of inner mitochondrial membrane 29 gene DOID:13810 familial hypercholesterolemia ISO RGD:1602195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:28492532 12224309 TIMM29 translocase of inner mitochondrial membrane 29 gene DOID:3413 alpha-mannosidosis ISO RGD:1602195 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12224315 OTUB1 OTU deubiquitinase, ubiquitin aldehyde binding 1 gene DOID:0080162 lupus nephritis ISO RGD:1322723 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:22279542|REF_RGD_ID:7175260 12224315 OTUB1 OTU deubiquitinase, ubiquitin aldehyde binding 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1322723 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12224315 OTUB1 OTU deubiquitinase, ubiquitin aldehyde binding 1 gene DOID:1059 intellectual disability ISO RGD:1322723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12224315 OTUB1 OTU deubiquitinase, ubiquitin aldehyde binding 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1322723 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:22279542|REF_RGD_ID:7175260 12224315 OTUB1 OTU deubiquitinase, ubiquitin aldehyde binding 1 gene DOID:3070 high grade glioma ISO RGD:1322723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12224315 OTUB1 OTU deubiquitinase, ubiquitin aldehyde binding 1 gene DOID:630 genetic disease ISO RGD:1322723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224320 LOC611751 protein FAM122A-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12224320 LOC611751 protein FAM122A-like gene DOID:12849 autistic disorder ISO RGD:1605854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12224320 LOC611751 protein FAM122A-like gene DOID:630 genetic disease ISO RGD:1605854 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224350 OR2L3B olfactory receptor family 2 subfamily L member 3B gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1347355 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12224350 OR2L3B olfactory receptor family 2 subfamily L member 3B gene DOID:1540 parathyroid carcinoma ISO RGD:1347355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12224350 OR2L3B olfactory receptor family 2 subfamily L member 3B gene DOID:630 genetic disease ISO RGD:1347355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224350 OR2L3B olfactory receptor family 2 subfamily L member 3B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12224350 OR2L3B olfactory receptor family 2 subfamily L member 3B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12224354 ECT2L epithelial cell transforming 2 like gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1353624 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12224354 ECT2L epithelial cell transforming 2 like gene DOID:630 genetic disease ISO RGD:1353624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224378 PUSL1 pseudouridine synthase like 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1353807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12224378 PUSL1 pseudouridine synthase like 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1353807 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12224378 PUSL1 pseudouridine synthase like 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1353807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12224378 PUSL1 pseudouridine synthase like 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1353807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12224378 PUSL1 pseudouridine synthase like 1 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1353807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12224378 PUSL1 pseudouridine synthase like 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1353807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12224378 PUSL1 pseudouridine synthase like 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:1353807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12224378 PUSL1 pseudouridine synthase like 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:1353807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12224378 PUSL1 pseudouridine synthase like 1 gene DOID:630 genetic disease ISO RGD:1353807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224378 PUSL1 pseudouridine synthase like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12224378 PUSL1 pseudouridine synthase like 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1353807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12224378 PUSL1 pseudouridine synthase like 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1353807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12224390 MIR30E microRNA mir-30e gene DOID:557 kidney disease ISO RGD:1354313 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 12224390 MIR30E microRNA mir-30e gene DOID:9000784 Fibrosis ISO RGD:1354313 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 12224390 MIR30E microRNA mir-30e gene DOID:9000965 Neoplasm Metastasis ISO RGD:1354313 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 12224390 MIR30E microRNA mir-30e gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1354313 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12224390 MIR30E microRNA mir-30e gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1354313 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 12224390 MIR30E microRNA mir-30e gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:1354313 D RGD:9068941 20200710 RGD RNA:increased expression:plasma PMID:27528406|REF_RGD_ID:35673289 12224390 MIR30E microRNA mir-30e gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:2325460 D RGD:9068941 20200710 RGD RNA:increased expression:plasma PMID:27528406|REF_RGD_ID:35673289 12224486 TMIGD3 transmembrane and immunoglobulin domain containing 3 gene DOID:0080600 COVID-19 ISO RGD:9590048 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12224486 TMIGD3 transmembrane and immunoglobulin domain containing 3 gene DOID:630 genetic disease ISO RGD:9590048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224500 CYP2C18 cytochrome P450 2C21 gene DOID:3071 gliosarcoma ISO RGD:1322740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9766669 12224500 CYP2C18 cytochrome P450 2C21 gene DOID:630 genetic disease ISO RGD:1322740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224500 CYP2C18 cytochrome P450 2C21 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 12224513 HEMGN hemogen gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1351335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 12224513 HEMGN hemogen gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1351335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 12224513 HEMGN hemogen gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1351335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 12224513 HEMGN hemogen gene DOID:1059 intellectual disability ISO RGD:1351335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12224513 HEMGN hemogen gene DOID:12712 nephronophthisis ISO RGD:1351335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 12224513 HEMGN hemogen gene DOID:14004 thoracic aortic aneurysm ISO RGD:1351335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 12224513 HEMGN hemogen gene DOID:630 genetic disease ISO RGD:1351335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224513 HEMGN hemogen gene DOID:9001793 Generalized Epilepsy ISO RGD:1351335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 12224529 MRPL58 mitochondrial ribosomal protein L58 gene DOID:630 genetic disease ISO RGD:1317429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224537 DRAP1 DR1 associated protein 1 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1318268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 12224537 DRAP1 DR1 associated protein 1 gene DOID:1059 intellectual disability ISO RGD:1318268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12224537 DRAP1 DR1 associated protein 1 gene DOID:1909 melanoma ISO RGD:1318268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12224537 DRAP1 DR1 associated protein 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1318268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12224537 DRAP1 DR1 associated protein 1 gene DOID:2746 glycogen storage disease V ISO RGD:1318268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12224537 DRAP1 DR1 associated protein 1 gene DOID:630 genetic disease ISO RGD:1318268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224537 DRAP1 DR1 associated protein 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1318268 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12224537 DRAP1 DR1 associated protein 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1318268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12224546 ITSN1 intersectin 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:737072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12224546 ITSN1 intersectin 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:737072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12224546 ITSN1 intersectin 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:737072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12224546 ITSN1 intersectin 1 gene DOID:0080600 COVID-19 ISO RGD:737072 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12224546 ITSN1 intersectin 1 gene DOID:1184 nephrotic syndrome ISO RGD:737072 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:29773874 12224546 ITSN1 intersectin 1 gene DOID:12849 autistic disorder ISO RGD:737072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 12224546 ITSN1 intersectin 1 gene DOID:1826 epilepsy ISO RGD:737072 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Generalized-onset seizure PMID:25741868 12224546 ITSN1 intersectin 1 gene DOID:630 genetic disease ISO RGD:737072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224546 ITSN1 intersectin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12224546 ITSN1 intersectin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12224546 ITSN1 intersectin 1 gene DOID:9005698 ZTTK Syndrome ISO RGD:737072 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 12224546 ITSN1 intersectin 1 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:737072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 12224599 ZCCHC9 zinc finger CCHC-type containing 9 gene DOID:630 genetic disease ISO RGD:1316648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224599 ZCCHC9 zinc finger CCHC-type containing 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12224632 OR10H5B olfactory receptor family 10 subfamily H member 5B gene DOID:630 genetic disease ISO RGD:1350293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224635 HMBOX1 homeobox containing 1 gene DOID:630 genetic disease ISO RGD:1603011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224665 PES1 pescadillo ribosomal biogenesis factor 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1345815 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34845814 12224665 PES1 pescadillo ribosomal biogenesis factor 1 gene DOID:630 genetic disease ISO RGD:1345815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224684 USP53 ubiquitin specific peptidase 53 gene DOID:0070224 progressive familial intrahepatic cholestasis 4 ISO RGD:1315332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, (PFIC4-like) PMID:25741868|PMID:32124521 12224684 USP53 ubiquitin specific peptidase 53 gene DOID:13580 cholestasis ISO RGD:1315332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cholestasis PMID:25741868|PMID:32124521|PMID:34608165 12224684 USP53 ubiquitin specific peptidase 53 gene DOID:5426 primary ovarian insufficiency ISO RGD:1315332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12224684 USP53 ubiquitin specific peptidase 53 gene DOID:630 genetic disease ISO RGD:1315332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32124521 12224684 USP53 ubiquitin specific peptidase 53 gene DOID:9002460 Progressive Familial Intrahepatic Cholestasis 7 ISO RGD:1315332 D RGD:7240710 20211222 OMIM 12224684 USP53 ubiquitin specific peptidase 53 gene DOID:9002460 Progressive Familial Intrahepatic Cholestasis 7 ISO RGD:1315332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss PMID:25741868|PMID:28492532|PMID:30250217|PMID:32124521|PMID:33075013|PMID:34608165 12224684 USP53 ubiquitin specific peptidase 53 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:0050589 inflammatory bowel disease ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:15844718|REF_RGD_ID:1626117 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:0050784 primary progressive multiple sclerosis disease_progression ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:15732261|REF_RGD_ID:1626118 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:19207313|REF_RGD_ID:12910858 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:0080600 COVID-19 ISO RGD:736042 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:10283 prostate cancer ISO RGD:736042 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs2854744, homozygous C allele associated with 2x increased risk PMID:17724372|REF_RGD_ID:2290008 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:10283 prostate cancer no_association ISO RGD:736042 D RGD:9068941 20200609 RGD DNA:SNP:promoter:no association with rs2854744, 440 cases and 480 related controls from Cleveland, OH and Detroit, MI PMID:15006930|REF_RGD_ID:2290012 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:10283 prostate cancer severity ISO RGD:736042 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs2854744 C allele associated with low grade tumors only, odds ratio=4.1 for low grade vs 1.0 for high grade PMID:17668637|REF_RGD_ID:2290015 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:10456 tonsillitis treatment ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:27738609|REF_RGD_ID:12743605 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:10534 stomach cancer treatment ISO RGD:736042 D RGD:9068941 20220901 RGD human cells in mouse model PMID:16052530|REF_RGD_ID:153344579 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:10652 Alzheimer's disease ISO RGD:10774 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:24964199|REF_RGD_ID:10402572 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:10652 Alzheimer's disease ISO RGD:736042 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:23473966|REF_RGD_ID:10402570 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:10652 Alzheimer's disease treatment ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:10399774|REF_RGD_ID:10402576 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:11054 urinary bladder cancer ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21347663 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:11054 urinary bladder cancer ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:plasma:level significantly lower in cases than controls (p<0.01), highest quartile levels associated with reduced risk (OR=0.38) PMID:12544349|REF_RGD_ID:2290028 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:11476 osteoporosis ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:9284698|REF_RGD_ID:10402579 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:12241 beta thalassemia ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:9666877|REF_RGD_ID:12743604 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:12689 acoustic neuroma susceptibility ISO RGD:736042 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21788435|REF_RGD_ID:8548833 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:12849 autistic disorder ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17547689 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:13025 retinopathy of prematurity ISO RGD:736042 D RGD:9068941 20200609 RGD associated with Obstetric Labor, Premature; protein:decreased expression:plasma: PMID:23202391|REF_RGD_ID:12743584 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:14250 Down syndrome ISO RGD:736042 D RGD:9068941 20200609 RGD protein:increased expression:blood: PMID:9469274|REF_RGD_ID:12743600 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:1485 cystic fibrosis ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:15310308|REF_RGD_ID:12743589 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:1612 breast cancer ISO RGD:736042 D RGD:9068941 20200609 RGD DNA:SNP:promoter,CDS:variant allele of multiple SNPs including rs2854744, associated with increased risk singly and in combination, 1,193 patients and 1,310 control Chinese women in Shanghai PMID:15298948|REF_RGD_ID:2290011 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:1612 breast cancer ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:10069662|PMID:17287408|REF_RGD_ID:2301715|REF_RGD_ID:2301716 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:1612 breast cancer no_association ISO RGD:736042 D RGD:9068941 20200609 RGD DNA:SNP:promoter:no association with rs2854744, 677 cases and 834 controls from the Nurses' Health Study PMID:12925957|REF_RGD_ID:2290009 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:1697 ichthyosis ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:18780604|REF_RGD_ID:12743608 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:1858 McCune Albright syndrome treatment ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:16720661|REF_RGD_ID:12743609 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:1875 impotence ISO RGD:2874 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:penis PMID:21595839|REF_RGD_ID:10402765 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:1875 impotence treatment ISO RGD:2874 D RGD:9068941 20200609 RGD PMID:24576658|REF_RGD_ID:10402763 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:2349 arteriosclerosis ISO RGD:736042 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:15625284|REF_RGD_ID:2313768 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:2671 transitional cell carcinoma ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21347663 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:736042 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:17541304|REF_RGD_ID:2301466 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:3070 high grade glioma severity ISO RGD:736042 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21788435|REF_RGD_ID:8548833 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:3491 Turner syndrome ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:17067837|REF_RGD_ID:12743588 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:3491 Turner syndrome treatment ISO RGD:736042 D RGD:9068941 20200609 RGD DNA:SNP: :¿¿¿202 A>C(rs2854744)(human) PMID:22278433|REF_RGD_ID:12743598 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:3770 pulmonary fibrosis ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:15681824|REF_RGD_ID:1626120 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:2874 D RGD:9068941 20200609 RGD PMID:19844724|REF_RGD_ID:10402761 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:418 systemic scleroderma ISO RGD:736042 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19004037|REF_RGD_ID:12743606 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:4450 renal cell carcinoma ISO RGD:736042 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:tumor:27/43 (63%) by cDNA microarray, 43/58 (74%) by immunohistochemistry PMID:18076934|REF_RGD_ID:2290003 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:4959 epidermolysis bullosa dystrophica ISO RGD:736042 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:skin: PMID:15140235|REF_RGD_ID:12743601 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:630 genetic disease ISO RGD:736042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:7147 ankylosing spondylitis ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:9851264|REF_RGD_ID:10402573 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:7148 rheumatoid arthritis ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:8398 osteoarthritis ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:18775662|REF_RGD_ID:10402575 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:8692 myeloid leukemia ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:blood: PMID:23716272|REF_RGD_ID:12743616 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:736042 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03) PMID:17709267|REF_RGD_ID:2290004 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01) PMID:14675666|REF_RGD_ID:2290021 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9000121 Malocclusion ISO RGD:2874 D RGD:9068941 20200609 RGD PMID:22758598|REF_RGD_ID:10045831 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9000528 Coronary Disease ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:15521962|REF_RGD_ID:1626121 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2874 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:16923367|REF_RGD_ID:10402581 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:736042 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:21924014|REF_RGD_ID:12743583 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:736042 D RGD:9068941 20200609 RGD mRNA:increased expression:placenta: PMID:21823995|REF_RGD_ID:12743585 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:19591553|REF_RGD_ID:12743590 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:736042 D RGD:9068941 20200609 RGD protein:increased expression:Amniotic fluid: PMID:19217707|REF_RGD_ID:12743599 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:2874 D RGD:9068941 20200609 RGD PMID:15506645|REF_RGD_ID:1600258 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9002278 Metabolic Bone Diseases treatment ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:8619365|REF_RGD_ID:10402812 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15318950|PMID:16000583|PMID:24586243 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9002407 Spinal Fractures ISO RGD:736042 D RGD:9068941 20200609 RGD associated with Osteoporosis;protein:decreased expression:serum PMID:9258758|REF_RGD_ID:10402578 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9002427 Fetal Macrosomia ISO RGD:736042 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:17113804|REF_RGD_ID:12743591 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9002457 Experimental Arthritis ISO RGD:2874 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, serum PMID:14642797|REF_RGD_ID:10402760 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:17332286|REF_RGD_ID:2301467 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:736042 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, ovary PMID:16445635|REF_RGD_ID:2301468 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum:significantly decreased (p<0.001), levels inversely associated with serum IGF-II levels (p<0.01) PMID:14675666|REF_RGD_ID:2290021 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2874 D RGD:9068941 20200609 RGD PMID:10709766|REF_RGD_ID:10402756 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:736042 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21636299|REF_RGD_ID:12910854 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9004265 Endometrioid Carcinomas disease_progression ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:17952116|REF_RGD_ID:2301465 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9004713 Acute-Phase Reaction treatment ISO RGD:736042 D RGD:9068941 20200609 RGD associated with Burns PMID:10714634|REF_RGD_ID:10402777 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10774 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:16180585|REF_RGD_ID:2313766 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2874 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:penis PMID:18068478|REF_RGD_ID:2289159 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2874 D RGD:9068941 20200609 RGD PMID:25582342|REF_RGD_ID:12743617 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9005930 Endotoxemia ISO RGD:2874 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver, serum PMID:18492809|REF_RGD_ID:10402757 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9006008 Closed Head Injuries ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:12002507|REF_RGD_ID:8548865 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9007661 Dwarfism ISO RGD:736042 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell; PMID:17396438|REF_RGD_ID:12743603 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9007692 Insulin Resistance ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:17237715|REF_RGD_ID:2313762 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:plasma:significantly lower circulating levels in 80 cases vs 80 controls (p<0.001), significantly decreased risk in the highest quartile of expression PMID:15159305|REF_RGD_ID:2290018 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9007730 Burns ISO RGD:2874 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney, liver, muscle PMID:10827012|REF_RGD_ID:12910869 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9206 Barrett's esophagus ISO RGD:736042 D RGD:9068941 20200609 RGD associated with Aneuploidy; protein:increased expression:serum: PMID:18006928|REF_RGD_ID:12743582 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9271 ornithine carbamoyltransferase deficiency treatment ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:16703326|REF_RGD_ID:12743607 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:16005252|REF_RGD_ID:2313767 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:15356074|REF_RGD_ID:2313769 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9744 type 1 diabetes mellitus severity ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:16887362|REF_RGD_ID:2313765 12224708 IGFBP3 insulin like growth factor binding protein 3 gene DOID:9970 obesity ISO RGD:2874 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:pancreatic fat pad PMID:22067319|REF_RGD_ID:10402755 12224717 FRG1 FSHD region gene 1 gene DOID:0111192 facioscapulohumeral muscular dystrophy 1 ISO RGD:1320772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12224717 FRG1 FSHD region gene 1 gene DOID:2229 factor XI deficiency ISO RGD:1320772 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:34355501 12224717 FRG1 FSHD region gene 1 gene DOID:630 genetic disease ISO RGD:1320772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224717 FRG1 FSHD region gene 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12224717 FRG1 FSHD region gene 1 gene DOID:9007098 Pulmonary Atresia ISO RGD:1320772 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 12224788 SULT1C4 sulfotransferase family 1C member 4 gene DOID:0111201 distal hereditary motor neuronopathy type 7A ISO RGD:1347018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:28492532 12224788 SULT1C4 sulfotransferase family 1C member 4 gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1347018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PMID:10431241|PMID:10431242|PMID:18854857|PMID:20979233|PMID:28492532|PMID:28981473 12224788 SULT1C4 sulfotransferase family 1C member 4 gene DOID:630 genetic disease ISO RGD:1347018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224788 SULT1C4 sulfotransferase family 1C member 4 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1347018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:28492532 12224799 NHP2 NHP2 ribonucleoprotein gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12224799 NHP2 NHP2 ribonucleoprotein gene DOID:0070015 autosomal recessive dyskeratosis congenita 1 ISO RGD:1319777 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 PMID:18523010|PMID:20301779|PMID:25741868|PMID:28492532|PMID:31681265 12224799 NHP2 NHP2 ribonucleoprotein gene DOID:0070017 autosomal recessive dyskeratosis congenita 2 ISO RGD:1319777 D RGD:7240710 20180130 OMIM 12224799 NHP2 NHP2 ribonucleoprotein gene DOID:0070017 autosomal recessive dyskeratosis congenita 2 ISO RGD:1319777 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2 PMID:18523010|PMID:20301779|PMID:25741868|PMID:28492532 12224799 NHP2 NHP2 ribonucleoprotein gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1319777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12224799 NHP2 NHP2 ribonucleoprotein gene DOID:0112103 Sotos syndrome 1 ISO RGD:1319777 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12224799 NHP2 NHP2 ribonucleoprotein gene DOID:2729 dyskeratosis congenita ISO RGD:1319777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:16199547|PMID:17576681|PMID:18523010|PMID:25741868|PMID:28492532|PMID:31681265|PMID:31985013|PMID:9536098 12224799 NHP2 NHP2 ribonucleoprotein gene DOID:630 genetic disease ISO RGD:1319777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31681265 12224799 NHP2 NHP2 ribonucleoprotein gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:1319777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12224812 DCTN3 dynactin subunit 3 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1319944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12224812 DCTN3 dynactin subunit 3 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1319944 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12224812 DCTN3 dynactin subunit 3 gene DOID:0080942 anauxetic dysplasia ISO RGD:1319944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12224812 DCTN3 dynactin subunit 3 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1319944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12224812 DCTN3 dynactin subunit 3 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1319944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12224812 DCTN3 dynactin subunit 3 gene DOID:630 genetic disease ISO RGD:1319944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224812 DCTN3 dynactin subunit 3 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1319944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12224812 DCTN3 dynactin subunit 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1319944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12224812 DCTN3 dynactin subunit 3 gene DOID:9870 galactosemia ISO RGD:1319944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12224823 HOOK3 hook microtubule tethering protein 3 gene DOID:0090039 torsion dystonia 6 ISO RGD:1346925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 12224823 HOOK3 hook microtubule tethering protein 3 gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:1346925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 PMID:28492532 12224823 HOOK3 hook microtubule tethering protein 3 gene DOID:0111959 immunodeficiency 15B ISO RGD:1346925 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 12224823 HOOK3 hook microtubule tethering protein 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1346925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12224823 HOOK3 hook microtubule tethering protein 3 gene DOID:630 genetic disease ISO RGD:1346925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224823 HOOK3 hook microtubule tethering protein 3 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:1346925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 12224823 HOOK3 hook microtubule tethering protein 3 gene DOID:9007661 Dwarfism ISO RGD:1346925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12224823 HOOK3 hook microtubule tethering protein 3 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1346925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 12224854 GSR glutathione-disulfide reductase gene DOID:0050859 hemorrhagic cystitis ISO RGD:621747 D RGD:9068941 20200609 RGD protein:increased activity:urinary bladder: PMID:19107871|REF_RGD_ID:7257548 12224854 GSR glutathione-disulfide reductase gene DOID:0080108 myoglobinuria ISO RGD:621747 D RGD:9068941 20200609 RGD protein:decreased activity:kidney: PMID:15452363|REF_RGD_ID:7257577 12224854 GSR glutathione-disulfide reductase gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24622831|REF_RGD_ID:10401873 12224854 GSR glutathione-disulfide reductase gene DOID:0080855 Parkinsonism ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22721943 12224854 GSR glutathione-disulfide reductase gene DOID:0080855 Parkinsonism treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:20951685|REF_RGD_ID:5128840 12224854 GSR glutathione-disulfide reductase gene DOID:0111363 Heinz body anemia treatment ISO RGD:732221 D RGD:9068941 20200609 RGD PMID:20692194|REF_RGD_ID:11059501 12224854 GSR glutathione-disulfide reductase gene DOID:1037 lymphoid leukemia ISO RGD:732221 D RGD:9068941 20200609 RGD protein:increased activity:erythrocyte: PMID:8569275|REF_RGD_ID:11059504 12224854 GSR glutathione-disulfide reductase gene DOID:10652 Alzheimer's disease ISO RGD:732221 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:10096042|REF_RGD_ID:10401847 12224854 GSR glutathione-disulfide reductase gene DOID:10652 Alzheimer's disease ISO RGD:732221 D RGD:9068941 20200609 RGD protein:decreased expression:blood PMID:17721818|REF_RGD_ID:10401827 12224854 GSR glutathione-disulfide reductase gene DOID:10652 Alzheimer's disease treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:19374888|REF_RGD_ID:10401849 12224854 GSR glutathione-disulfide reductase gene DOID:10652 Alzheimer's disease treatment ISO RGD:732222 D RGD:9068941 20200609 RGD PMID:21376020|REF_RGD_ID:10401857 12224854 GSR glutathione-disulfide reductase gene DOID:10763 hypertension ISO RGD:732221 D RGD:9068941 20200609 RGD protein,mRNA:decreased_expression:mononuclear_cells:after treatment, activity increased but mRNA expression decreased further PMID:17198913|REF_RGD_ID:1600704 12224854 GSR glutathione-disulfide reductase gene DOID:10923 sickle cell anemia ISO RGD:732222 D RGD:9068941 20200609 RGD protein:increased activity:erythrocyte: PMID:14717789|REF_RGD_ID:11059503 12224854 GSR glutathione-disulfide reductase gene DOID:11476 osteoporosis ISO RGD:732221 D RGD:9068941 20200609 RGD protein:decreased expression:blood PMID:19464221|REF_RGD_ID:10401828 12224854 GSR glutathione-disulfide reductase gene DOID:11713 diabetic angiopathy ISO RGD:732221 D RGD:9068941 20200609 RGD cardiovascular complications in type 2 diabetics; protein:reduced_activity:blood PMID:16338763|REF_RGD_ID:1600708 12224854 GSR glutathione-disulfide reductase gene DOID:11758 iron deficiency anemia ISO RGD:732221 D RGD:9068941 20200609 RGD protein:increased activity:plasma: PMID:25097522|REF_RGD_ID:11059505 12224854 GSR glutathione-disulfide reductase gene DOID:12241 beta thalassemia ISO RGD:732221 D RGD:9068941 20200609 RGD protein:decreased activity:erythrocyte: PMID:20126808|REF_RGD_ID:11052141 12224854 GSR glutathione-disulfide reductase gene DOID:12556 acute kidney tubular necrosis ISO RGD:621747 D RGD:9068941 20200609 RGD protein:decreased activity:renal cortex: PMID:12885594|REF_RGD_ID:7257573 12224854 GSR glutathione-disulfide reductase gene DOID:12556 acute kidney tubular necrosis ISO RGD:732222 D RGD:9068941 20200609 RGD PMID:17078987|REF_RGD_ID:7257555 12224854 GSR glutathione-disulfide reductase gene DOID:12858 Huntington's disease treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:11490092|REF_RGD_ID:10401927 12224854 GSR glutathione-disulfide reductase gene DOID:1289 neurodegenerative disease ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 12224854 GSR glutathione-disulfide reductase gene DOID:1307 dementia ISO RGD:732221 D RGD:9068941 20200609 RGD associated with Uremia PMID:19242659|REF_RGD_ID:10401864 12224854 GSR glutathione-disulfide reductase gene DOID:13328 diabetic cataract ISO RGD:732221 D RGD:9068941 20200609 RGD PMID:12518238|REF_RGD_ID:10401829 12224854 GSR glutathione-disulfide reductase gene DOID:224 transient cerebral ischemia treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:15525350|REF_RGD_ID:10401855 12224854 GSR glutathione-disulfide reductase gene DOID:2355 anemia ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:5984971 12224854 GSR glutathione-disulfide reductase gene DOID:251 alcohol-induced mental disorder treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24972622|REF_RGD_ID:10401897 12224854 GSR glutathione-disulfide reductase gene DOID:2773 contact dermatitis ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12224854 GSR glutathione-disulfide reductase gene DOID:3021 acute kidney failure ISO RGD:621747 D RGD:9068941 20200609 RGD glycerol-induced PMID:1870354|REF_RGD_ID:7257559 12224854 GSR glutathione-disulfide reductase gene DOID:3021 acute kidney failure ISO RGD:732222 D RGD:9068941 20200609 RGD protein:decreased activity:kidney: PMID:22286819|REF_RGD_ID:7257585 12224854 GSR glutathione-disulfide reductase gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16681429 12224854 GSR glutathione-disulfide reductase gene DOID:3393 coronary artery disease ISO RGD:732221 D RGD:9068941 20200609 RGD cardiovascular complications in type 2 diabetics; protein:reduced_activity:blood PMID:16338763|REF_RGD_ID:1600708 12224854 GSR glutathione-disulfide reductase gene DOID:4448 macular degeneration ISO RGD:732221 D RGD:9068941 20200609 RGD protein:decreased expression:blood PMID:7803358|REF_RGD_ID:10401825 12224854 GSR glutathione-disulfide reductase gene DOID:4450 renal cell carcinoma ISO RGD:732221 D RGD:9068941 20200609 RGD protein:decreased expression:kidney: PMID:18312938|REF_RGD_ID:7257550 12224854 GSR glutathione-disulfide reductase gene DOID:583 hemolytic anemia ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:13931269 12224854 GSR glutathione-disulfide reductase gene DOID:5844 myocardial infarction treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:25119867|REF_RGD_ID:10401898 12224854 GSR glutathione-disulfide reductase gene DOID:585 nephrolithiasis ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:16670437|REF_RGD_ID:7257558 12224854 GSR glutathione-disulfide reductase gene DOID:589 congenital hemolytic anemia ISO RGD:732221 D RGD:9068941 20200609 RGD protein:reduced_expression:erythrocytes,leukocytes:hemolysis triggered by consumption of fava beans PMID:947404|REF_RGD_ID:1600697 12224854 GSR glutathione-disulfide reductase gene DOID:630 genetic disease ISO RGD:732221 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12224854 GSR glutathione-disulfide reductase gene DOID:750 peptic ulcer disease treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24480520|REF_RGD_ID:10401900 12224854 GSR glutathione-disulfide reductase gene DOID:783 end stage renal disease ISO RGD:732221 D RGD:9068941 20200609 RGD protein:increased activity:blood: PMID:20181004|REF_RGD_ID:7257547 12224854 GSR glutathione-disulfide reductase gene DOID:783 end stage renal disease ISO RGD:732221 D RGD:9068941 20200609 RGD protein:increased activity:lymphocyte: PMID:6463365|REF_RGD_ID:7257560 12224854 GSR glutathione-disulfide reductase gene DOID:7998 hyperthyroidism ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19914224 12224854 GSR glutathione-disulfide reductase gene DOID:7998 hyperthyroidism treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:25242845|REF_RGD_ID:10401891 12224854 GSR glutathione-disulfide reductase gene DOID:83 cataract ISO RGD:732221 D RGD:9068941 20200609 RGD protein:reduced_expression PMID:947404|REF_RGD_ID:1600697 12224854 GSR glutathione-disulfide reductase gene DOID:83 cataract treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24530554|REF_RGD_ID:10401885 12224854 GSR glutathione-disulfide reductase gene DOID:8997 polycythemia vera ISO RGD:732221 D RGD:9068941 20200609 RGD protein:increased activity:erythrocyte: PMID:8569275|REF_RGD_ID:11059504 12224854 GSR glutathione-disulfide reductase gene DOID:9000197 Edema ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 12224854 GSR glutathione-disulfide reductase gene DOID:9000310 Lung Injury treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24479952|REF_RGD_ID:10401875 12224854 GSR glutathione-disulfide reductase gene DOID:9000808 Hypercholesterolemia treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24120393|PMID:24770475|REF_RGD_ID:10401874|REF_RGD_ID:10401896 12224854 GSR glutathione-disulfide reductase gene DOID:9001191 Cadmium Poisoning treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24200859|REF_RGD_ID:10401881 12224854 GSR glutathione-disulfide reductase gene DOID:9002165 Diabetic Nephropathies ISO RGD:732221 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:decreased activity:kidney PMID:23626958|REF_RGD_ID:7257582 12224854 GSR glutathione-disulfide reductase gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:621747 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24947049|REF_RGD_ID:10401899 12224854 GSR glutathione-disulfide reductase gene DOID:9002331 Knee Osteoarthritis ISO RGD:732221 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid PMID:16289733|REF_RGD_ID:10401830 12224854 GSR glutathione-disulfide reductase gene DOID:9002644 Premature Aging ISO RGD:732222 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex PMID:16542809|REF_RGD_ID:10401826 12224854 GSR glutathione-disulfide reductase gene DOID:9002644 Premature Aging treatment ISO RGD:732222 D RGD:9068941 20200609 RGD PMID:21903878|REF_RGD_ID:10401863 12224854 GSR glutathione-disulfide reductase gene DOID:9002775 Cognitive Dysfunction ISO RGD:732221 D RGD:9068941 20200609 RGD PMID:18320305|REF_RGD_ID:10401853 12224854 GSR glutathione-disulfide reductase gene DOID:9004009 Reperfusion Injury treatment ISO RGD:621747 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24904723|REF_RGD_ID:10401882 12224854 GSR glutathione-disulfide reductase gene DOID:9004610 Acute Lung Injury ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:7896613|REF_RGD_ID:7257562 12224854 GSR glutathione-disulfide reductase gene DOID:9004989 Protein Deficiency ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15865262 12224854 GSR glutathione-disulfide reductase gene DOID:9005292 Organophosphate Poisoning treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24188896|REF_RGD_ID:10401876 12224854 GSR glutathione-disulfide reductase gene DOID:9005452 Ureteral Calculi ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24360074 12224854 GSR glutathione-disulfide reductase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621747 D RGD:9068941 20200609 RGD protein:decreased activity:plasma: PMID:20187988|REF_RGD_ID:7257587 12224854 GSR glutathione-disulfide reductase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20620209 12224854 GSR glutathione-disulfide reductase gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:25050809|REF_RGD_ID:10401889 12224854 GSR glutathione-disulfide reductase gene DOID:9005930 Endotoxemia treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:25469663|REF_RGD_ID:10401928 12224854 GSR glutathione-disulfide reductase gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24630969|REF_RGD_ID:10401866 12224854 GSR glutathione-disulfide reductase gene DOID:9006411 Testicular Injury treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:25446862|REF_RGD_ID:10401887 12224854 GSR glutathione-disulfide reductase gene DOID:9007213 Hemolytic Anemia due to Glutathione Reductase Deficiency ISO RGD:732221 D RGD:7240710 20191211 OMIM 12224854 GSR glutathione-disulfide reductase gene DOID:9007213 Hemolytic Anemia due to Glutathione Reductase Deficiency ISO RGD:732221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemolytic anemia due to glutathione reductase deficiency PMID:25741868|PMID:28492532 12224854 GSR glutathione-disulfide reductase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:621747 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:23554813|REF_RGD_ID:7257532 12224854 GSR glutathione-disulfide reductase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513|PMID:28069987 12224854 GSR glutathione-disulfide reductase gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24154663|REF_RGD_ID:10401878 12224854 GSR glutathione-disulfide reductase gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24769323|REF_RGD_ID:10401892 12224854 GSR glutathione-disulfide reductase gene DOID:9007964 Arsenic Poisoning ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:25209654|REF_RGD_ID:10401880 12224854 GSR glutathione-disulfide reductase gene DOID:9007980 Sleep Deprivation ISO RGD:621747 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, cortex, amygdala: PMID:21621560|REF_RGD_ID:11059509 12224854 GSR glutathione-disulfide reductase gene DOID:9008691 Liver Injury ISO RGD:621747 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:22120977|REF_RGD_ID:10401865 12224854 GSR glutathione-disulfide reductase gene DOID:9119 acute myeloid leukemia ISO RGD:732221 D RGD:9068941 20200609 RGD PMID:24191316|REF_RGD_ID:11059506 12224854 GSR glutathione-disulfide reductase gene DOID:9351 diabetes mellitus ISO RGD:732221 D RGD:9068941 20200609 RGD protein:decreased activity:blood: PMID:22540111|REF_RGD_ID:7257584 12224854 GSR glutathione-disulfide reductase gene DOID:9669 senile cataract ISO RGD:732221 D RGD:9068941 20200609 RGD PMID:12518238|REF_RGD_ID:10401829 12224854 GSR glutathione-disulfide reductase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732221 D RGD:9068941 20200609 RGD PMID:24191316|REF_RGD_ID:11059506 12224854 GSR glutathione-disulfide reductase gene DOID:9993 hypoglycemia ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20620209 12224877 CCDC110 coiled-coil domain containing 110 gene DOID:12849 autistic disorder ISO RGD:1606416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12224877 CCDC110 coiled-coil domain containing 110 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 12224877 CCDC110 coiled-coil domain containing 110 gene DOID:630 genetic disease ISO RGD:1606416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224877 CCDC110 coiled-coil domain containing 110 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1606416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 12224887 USP38 ubiquitin specific peptidase 38 gene DOID:630 genetic disease ISO RGD:1323709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224901 IZUMO2 IZUMO family member 2 gene DOID:630 genetic disease ISO RGD:1606978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224916 USP1 ubiquitin specific peptidase 1 gene DOID:1059 intellectual disability ISO RGD:1315093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12224916 USP1 ubiquitin specific peptidase 1 gene DOID:13636 Fanconi anemia ISO RGD:1315094 D RGD:9068941 20220825 MouseDO 12224916 USP1 ubiquitin specific peptidase 1 gene DOID:630 genetic disease ISO RGD:1315093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12224943 PDK3 pyruvate dehydrogenase kinase 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12224943 PDK3 pyruvate dehydrogenase kinase 3 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1343163 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:19439424|PMID:19738637|PMID:24643514|PMID:26337422|PMID:28492532 12224943 PDK3 pyruvate dehydrogenase kinase 3 gene DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 ISO RGD:1343163 D RGD:7240710 20180130 OMIM 12224943 PDK3 pyruvate dehydrogenase kinase 3 gene DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 ISO RGD:1343163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 6 PMID:16199547|PMID:17576681|PMID:23297365|PMID:25741868|PMID:26801680|PMID:27388934|PMID:28106320|PMID:28492532|PMID:32504000|PMID:34387338|PMID:9536098 12224943 PDK3 pyruvate dehydrogenase kinase 3 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1343163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532 12224943 PDK3 pyruvate dehydrogenase kinase 3 gene DOID:12849 autistic disorder ISO RGD:1343163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12224943 PDK3 pyruvate dehydrogenase kinase 3 gene DOID:630 genetic disease ISO RGD:1343163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23297365|PMID:25741868|PMID:26801680|PMID:27388934|PMID:28106320|PMID:28492532|PMID:32504000|PMID:34387338 12224943 PDK3 pyruvate dehydrogenase kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12224969 EML6 EMAP like 6 gene DOID:10126 keratoconus ISO RGD:2302327 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 12224969 EML6 EMAP like 6 gene DOID:630 genetic disease ISO RGD:2302327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225013 PDLIM4 PDZ and LIM domain 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353458 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12225013 PDLIM4 PDZ and LIM domain 4 gene DOID:11476 osteoporosis ISO RGD:1353458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 15 PMID:12908099 12225013 PDLIM4 PDZ and LIM domain 4 gene DOID:11476 osteoporosis susceptibility ISO RGD:1353458 D RGD:7240710 20230505 OMIM 12225013 PDLIM4 PDZ and LIM domain 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:1353458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12225013 PDLIM4 PDZ and LIM domain 4 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1353458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:20574985|PMID:28492532 12225013 PDLIM4 PDZ and LIM domain 4 gene DOID:630 genetic disease ISO RGD:1353458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225013 PDLIM4 PDZ and LIM domain 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12225013 PDLIM4 PDZ and LIM domain 4 gene DOID:9005172 Lung Neoplasms ISO RGD:1353458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12225013 PDLIM4 PDZ and LIM domain 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353458 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12225026 CTTNBP2NL CTTNBP2 N-terminal like gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1607020 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 12225026 CTTNBP2NL CTTNBP2 N-terminal like gene DOID:630 genetic disease ISO RGD:1607020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225026 CTTNBP2NL CTTNBP2 N-terminal like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1607020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12225043 RSPH3 radial spoke head 3 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1322691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 12225043 RSPH3 radial spoke head 3 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1322691 D RGD:7240710 20180130 OMIM 12225043 RSPH3 radial spoke head 3 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1322691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:16199547|PMID:17576681|PMID:25741868|PMID:26073779|PMID:28492532|PMID:9536098 12225043 RSPH3 radial spoke head 3 gene DOID:630 genetic disease ISO RGD:1322691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12225043 RSPH3 radial spoke head 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 12225054 NLRP13 NLR family pyrin domain containing 13 gene DOID:2843 long QT syndrome ISO RGD:1353277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12225054 NLRP13 NLR family pyrin domain containing 13 gene DOID:630 genetic disease ISO RGD:1353277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225065 UGGT2 UDP-glucose glycoprotein glucosyltransferase 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1351683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 12225065 UGGT2 UDP-glucose glycoprotein glucosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1351683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225065 UGGT2 UDP-glucose glycoprotein glucosyltransferase 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1351683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12225112 FHIP2B FHF complex subunit HOOK interacting protein 2B gene DOID:630 genetic disease ISO RGD:1318892 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225112 FHIP2B FHF complex subunit HOOK interacting protein 2B gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1318892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12225132 NCKAP1L NCK associated protein 1 like gene DOID:0112015 immunodeficiency 72 ISO RGD:1323803 D RGD:7240710 20200902 OMIM 12225132 NCKAP1L NCK associated protein 1 like gene DOID:0112015 immunodeficiency 72 ISO RGD:1323803 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 72 with autoinflammation PMID:25741868|PMID:28492532|PMID:32646852|PMID:32647003|PMID:32766723 12225132 NCKAP1L NCK associated protein 1 like gene DOID:630 genetic disease ISO RGD:1323803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12225132 NCKAP1L NCK associated protein 1 like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12225169 ATG101 autophagy related 101 gene DOID:219 colon cancer disease_progression ISO RGD:1602213 D RGD:9068941 20220908 RGD PMID:34315829|REF_RGD_ID:153350092 12225169 ATG101 autophagy related 101 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1602213 D RGD:9068941 20220908 RGD PMID:35592424|REF_RGD_ID:153350091 12225169 ATG101 autophagy related 101 gene DOID:630 genetic disease ISO RGD:1602213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225169 ATG101 autophagy related 101 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1602213 D RGD:9068941 20220908 RGD PMID:35592424|REF_RGD_ID:153350091 12225169 ATG101 autophagy related 101 gene DOID:9005172 Lung Neoplasms ISO RGD:1602213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0060001 withdrawal disorder ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18184829 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0060041 autism spectrum disorder ISO RGD:736847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:19050728|PMID:19289393|PMID:20506139|PMID:20506140|PMID:21844811|PMID:22420048|PMID:23044707|PMID:25255310|PMID:25741868|PMID:27569545 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0060321 umbilical hernia ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22473653 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:736847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:736847 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome PMID:31690835 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0080600 COVID-19 ISO RGD:736847 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0111321 idiopathic generalized epilepsy 7 ISO RGD:736847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 PMID:25326635|PMID:25741868 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:10652 Alzheimer's disease ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18071042 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:10652 Alzheimer's disease ISO RGD:736847 D RGD:9068941 20200609 RGD PMID:15465084|REF_RGD_ID:1358509 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:10357 D RGD:9068941 20220414 RGD PMID:14970827|REF_RGD_ID:151708703 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:12217 Lewy body dementia ISO RGD:736847 D RGD:9068941 20200609 RGD PMID:15465084|REF_RGD_ID:1358509 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:12849 autistic disorder ISO RGD:736847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:1324 lung cancer disease_progression ISO RGD:736847 D RGD:9068941 20220414 RGD DNA:CNV:: CNV-3956(human) PMID:25407004|REF_RGD_ID:11074492 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:1561 cognitive disorder ameliorates ISO RGD:2348 D RGD:9068941 20220414 RGD PMID:19158670|REF_RGD_ID:151708702 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:736847 D RGD:9068941 20220414 RGD DNA:CNV:: CNV-3956(human) PMID:25407004|REF_RGD_ID:11074492 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736847 D RGD:9068941 20220224 RGD mRNA:increased expression:esophagus (human) PMID:27610024|REF_RGD_ID:151361143 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:736847 D RGD:9068941 20220414 RGD PMID:33603170|REF_RGD_ID:151667905 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:736847 D RGD:9068941 20220414 RGD PMID:33603170|REF_RGD_ID:151667905 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:736847 D RGD:9068941 20220414 RGD PMID:19151195|PMID:19326440|REF_RGD_ID:151667906|REF_RGD_ID:151667908 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:5419 schizophrenia ISO RGD:736847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:630 genetic disease ISO RGD:736847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:7148 rheumatoid arthritis ISO RGD:2348 D RGD:9068941 20220414 RGD mRNA,protein:increased expression:joint, spleen: PMID:31279484|REF_RGD_ID:151676715 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:7474 malignant pleural mesothelioma ameliorates ISO RGD:736847 D RGD:9068941 20220414 RGD PMID:18722110|REF_RGD_ID:151667912 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:8577 ulcerative colitis ISO RGD:736847 D RGD:9068941 20220414 RGD mRNA:increased expression:intestine: PMID:27051591|REF_RGD_ID:151667910 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:8778 Crohn's disease ISO RGD:736847 D RGD:9068941 20220414 RGD mRNA:increased expression:colon: PMID:27051591|REF_RGD_ID:151667910 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9000099 Experimental Colitis treatment ISO RGD:2348 D RGD:9068941 20220623 RGD PMID:29572553|REF_RGD_ID:152995414 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9000998 Brain Injuries ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9001310 Tobacco Use Disorder ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24289814 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9001793 Generalized Epilepsy ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19136953 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9002211 Hyperalgesia ameliorates ISO RGD:2348 D RGD:9068941 20220414 RGD associated with sciatic neuropathy; PMID:20619541|REF_RGD_ID:151708701 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19898479 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9002886 Auditory Perceptual Disorders ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10578459 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9002955 Nerve Degeneration ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21715663 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18844224 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9005172 Lung Neoplasms ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24089524 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9007 sudden infant death syndrome ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22000980 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9007921 Spina Bifida Cystica ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22473653 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9008023 Memory Disorders ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18848931 12225176 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9256 colorectal cancer ISO RGD:736847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 12225203 MED28 mediator complex subunit 28 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12225203 MED28 mediator complex subunit 28 gene DOID:630 genetic disease ISO RGD:1354293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225203 MED28 mediator complex subunit 28 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1354293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21942447 12225203 MED28 mediator complex subunit 28 gene DOID:9008939 Breast Neoplasms ISO RGD:1354293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21942447 12225214 IRF8 interferon regulatory factor 8 gene DOID:0060761 familial chronic myelocytic leukemia-like syndrome ISO RGD:1621626 D RGD:9068941 20220825 MouseDO OMIM:600080 12225214 IRF8 interferon regulatory factor 8 gene DOID:0070004 myeloid neoplasm ISO RGD:1621626 D RGD:9068941 20200609 RGD PMID:20585039|REF_RGD_ID:11530030 12225214 IRF8 interferon regulatory factor 8 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1621626 D RGD:9068941 20200609 RGD PMID:20585039|REF_RGD_ID:11530030 12225214 IRF8 interferon regulatory factor 8 gene DOID:0111985 immunodeficiency 32B ISO RGD:1351360 D RGD:7240710 20190315 OMIM 12225214 IRF8 interferon regulatory factor 8 gene DOID:0111985 immunodeficiency 32B ISO RGD:1351360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 32B PMID:16199547|PMID:17576681|PMID:21524210|PMID:24435047|PMID:25122610|PMID:25741868|PMID:26038974|PMID:27893462|PMID:28492532|PMID:30840779|PMID:32499645|PMID:6279813|PMID:9536098 12225214 IRF8 interferon regulatory factor 8 gene DOID:0111986 immunodeficiency 32A ISO RGD:1351360 D RGD:7240710 20180130 OMIM 12225214 IRF8 interferon regulatory factor 8 gene DOID:0111986 immunodeficiency 32A ISO RGD:1351360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency PMID:21524210|PMID:25741868|PMID:28492532 12225214 IRF8 interferon regulatory factor 8 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1351360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12225214 IRF8 interferon regulatory factor 8 gene DOID:2377 multiple sclerosis ISO RGD:1351360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19525953 12225214 IRF8 interferon regulatory factor 8 gene DOID:612 primary immunodeficiency disease ISO RGD:1351360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868|PMID:28492532|PMID:32499645 12225214 IRF8 interferon regulatory factor 8 gene DOID:630 genetic disease ISO RGD:1351360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225214 IRF8 interferon regulatory factor 8 gene DOID:7148 rheumatoid arthritis ISO RGD:1351360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 12225214 IRF8 interferon regulatory factor 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12225214 IRF8 interferon regulatory factor 8 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1351360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 12225227 PHF8 PHD finger protein 8 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12225227 PHF8 PHD finger protein 8 gene DOID:0060812 syndromic X-linked intellectual disability Siderius type ISO RGD:1347460 D RGD:7240710 20180130 OMIM 12225227 PHF8 PHD finger protein 8 gene DOID:0060812 syndromic X-linked intellectual disability Siderius type ISO RGD:1347460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Siderius type PMID:10398231|PMID:16199551|PMID:17594395|PMID:17661819|PMID:25741868|PMID:28492532 12225227 PHF8 PHD finger protein 8 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1347460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 12225227 PHF8 PHD finger protein 8 gene DOID:10283 prostate cancer ISO RGD:1347460 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate (human) PMID:22120715|REF_RGD_ID:9586733 12225227 PHF8 PHD finger protein 8 gene DOID:1059 intellectual disability ISO RGD:1347460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868|PMID:28492532 12225227 PHF8 PHD finger protein 8 gene DOID:12849 autistic disorder ISO RGD:1347460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12225227 PHF8 PHD finger protein 8 gene DOID:630 genetic disease ISO RGD:1347460 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 12225266 LAMP3 lysosomal associated membrane protein 3 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1317407 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12225266 LAMP3 lysosomal associated membrane protein 3 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1317407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12225266 LAMP3 lysosomal associated membrane protein 3 gene DOID:0111546 Currarino syndrome ISO RGD:1317407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12225266 LAMP3 lysosomal associated membrane protein 3 gene DOID:630 genetic disease ISO RGD:1317407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225266 LAMP3 lysosomal associated membrane protein 3 gene DOID:9001488 Human Influenza ISO RGD:1317407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12225279 QRFP pyroglutamylated RFamide peptide gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606909 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12225279 QRFP pyroglutamylated RFamide peptide gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1606909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 12225279 QRFP pyroglutamylated RFamide peptide gene DOID:630 genetic disease ISO RGD:1606909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225286 WWTR1 WW domain containing transcription regulator 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:1349820 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12225286 WWTR1 WW domain containing transcription regulator 1 gene DOID:12712 nephronophthisis ISO RGD:1617441 D RGD:9068941 20220825 MouseDO 12225286 WWTR1 WW domain containing transcription regulator 1 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:1349820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31494105 12225286 WWTR1 WW domain containing transcription regulator 1 gene DOID:630 genetic disease ISO RGD:1349820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225286 WWTR1 WW domain containing transcription regulator 1 gene DOID:767 muscular atrophy ISO RGD:1349820 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24550007 12225296 KIAA0232 KIAA0232 gene DOID:630 genetic disease ISO RGD:1602497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225329 RDH8 retinol dehydrogenase 8 gene DOID:12849 autistic disorder ISO RGD:1319361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12225329 RDH8 retinol dehydrogenase 8 gene DOID:630 genetic disease ISO RGD:1319361 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225383 RGS13 regulator of G protein signaling 13 gene DOID:1540 parathyroid carcinoma ISO RGD:1604849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12225383 RGS13 regulator of G protein signaling 13 gene DOID:630 genetic disease ISO RGD:1604849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225383 RGS13 regulator of G protein signaling 13 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1604849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 12225383 RGS13 regulator of G protein signaling 13 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12225394 DEFB4A defensin, beta 4A gene DOID:10459 common cold ISO RGD:1348794 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nasal cavity epithelium, nasal mucus PMID:15034083|REF_RGD_ID:4892264 12225394 DEFB4A defensin, beta 4A gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1348794 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:17000097|REF_RGD_ID:4892262 12225394 DEFB4A defensin, beta 4A gene DOID:13406 pulmonary sarcoidosis ISO RGD:1348794 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17000097|REF_RGD_ID:4892262 12225394 DEFB4A defensin, beta 4A gene DOID:1485 cystic fibrosis ISO RGD:1348794 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:9843998|REF_RGD_ID:4892267 12225394 DEFB4A defensin, beta 4A gene DOID:3770 pulmonary fibrosis ISO RGD:1348794 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17000097|REF_RGD_ID:4892262 12225394 DEFB4A defensin, beta 4A gene DOID:630 genetic disease ISO RGD:1348794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225394 DEFB4A defensin, beta 4A gene DOID:850 lung disease ISO RGD:1348794 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:9843998|REF_RGD_ID:4892267 12225394 DEFB4A defensin, beta 4A gene DOID:874 bacterial pneumonia ISO RGD:1348794 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:10213993|REF_RGD_ID:4892266 12225394 DEFB4A defensin, beta 4A gene DOID:9001415 Mycobacterium Infections ISO RGD:1348794 D RGD:9068941 20200609 RGD protein:increased expression:plasma, respiratory system fluid/secretion PMID:11296379|REF_RGD_ID:4892261 12225394 DEFB4A defensin, beta 4A gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1348794 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24894820 12225394 DEFB4A defensin, beta 4A gene DOID:9005446 Mandibular Neoplasms ISO RGD:1348794 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:11934727|REF_RGD_ID:4892265 12225401 DEFB127 defensin beta 127 gene DOID:630 genetic disease ISO RGD:1343760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225405 KRT3 keratin 3 gene DOID:0080671 Meesmann corneal dystrophy 2 ISO RGD:1353879 D RGD:7240710 20200226 OMIM 12225405 KRT3 keratin 3 gene DOID:0080671 Meesmann corneal dystrophy 2 ISO RGD:1353879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, Meesmann, 2 PMID:16227835|PMID:18806880|PMID:25741868|PMID:9171831 12225405 KRT3 keratin 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1353879 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12225405 KRT3 keratin 3 gene DOID:630 genetic disease ISO RGD:1353879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225422 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:10283 prostate cancer ISO RGD:733485 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland (human) PMID:19401687|REF_RGD_ID:10054425 12225422 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:10300 Raynaud disease ISO RGD:733485 D RGD:9068941 20221007 RGD PMID:25172934|REF_RGD_ID:155260370 12225422 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:1059 intellectual disability ISO RGD:733485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12225422 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:332 amyotrophic lateral sclerosis ISO RGD:733486 D RGD:9068941 20200609 RGD protein:decreased expression:lumbar spinal cord ventral horn, astrocyte (mouse) PMID:19323997|REF_RGD_ID:10058964 12225422 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:630 genetic disease ISO RGD:733485 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26173930|PMID:36130591 12225422 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:9000612 Cardiac Allograft Vasculopathy ISO RGD:733485 D RGD:9068941 20221007 RGD PMID:21489814|REF_RGD_ID:155260371 12225422 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:9002234 Pituitary Neoplasms ISO RGD:71058 D RGD:9068941 20200609 RGD mRNA:decreased expression:pituitary gland (rat) PMID:12716410|REF_RGD_ID:10058970 12225422 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:733486 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland (mouse) PMID:22015967|REF_RGD_ID:10054424 12225422 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:9003837 Au-Kline Syndrome ISO RGD:733485 D RGD:7240710 20180130 OMIM 12225422 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:9003837 Au-Kline Syndrome ISO RGD:733485 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AU-KLINE SYNDROME PMID:18414213|PMID:25741868|PMID:26173930|PMID:26220823|PMID:26954065|PMID:28374925|PMID:28771707|PMID:29904177|PMID:30998304|PMID:36130591 12225422 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:9005603 Muscle Hypotonia ISO RGD:733485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868 12225422 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:71058 D RGD:9068941 20200609 RGD PMID:16837467|REF_RGD_ID:10002795 12225422 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:9005775 Perinatal Asphyxia treatment ISO RGD:71058 D RGD:9068941 20221013 RGD PMID:33951501|REF_RGD_ID:155269042 12225422 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:9008939 Breast Neoplasms ISO RGD:733485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12225422 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:9256 colorectal cancer severity ISO RGD:733485 D RGD:9068941 20200609 RGD protein:increased expression:colonic epithelium, cytoplasm (human) PMID:21194727|REF_RGD_ID:9999439 12225422 HNRNPK heterogeneous nuclear ribonucleoprotein K gene DOID:936 brain disease ISO RGD:733485 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 12225510 CFAP91 cilia and flagella associated protein 91 gene DOID:0111919 spermatogenic failure 38 ISO RGD:1346781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility with teratozoospermia due to single gene mutation PMID:32161152 12225510 CFAP91 cilia and flagella associated protein 91 gene DOID:0112273 spermatogenic failure 51 ISO RGD:1346781 D RGD:7240710 20210303 OMIM 12225510 CFAP91 cilia and flagella associated protein 91 gene DOID:0112273 spermatogenic failure 51 ISO RGD:1346781 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 51 PMID:25741868|PMID:32161152 12225510 CFAP91 cilia and flagella associated protein 91 gene DOID:630 genetic disease ISO RGD:1346781 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:68533 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:0050685 small cell carcinoma ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20946520 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:0050746 mantle cell lymphoma ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17148679 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:0060041 autism spectrum disorder ISO RGD:68533 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:68533 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:68533 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:0080162 lupus nephritis ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:17283580|REF_RGD_ID:7245502 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:0080322 polycystic kidney disease ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:22160773|REF_RGD_ID:7245545 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:0080448 developmental and epileptic encephalopathy 48 ISO RGD:68533 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 48 PMID:25741868 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:0080855 Parkinsonism treatment ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:20089925|REF_RGD_ID:10040992 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22729223 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:68371 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:cholangiocyte PMID:24498161|REF_RGD_ID:10040950 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:0111936 immunodeficiency 14 ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:10283 prostate cancer treatment ISO RGD:68533 D RGD:9068941 20200609 RGD PMID:23094058|REF_RGD_ID:10041034 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:1059 intellectual disability ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:23636326|PMID:24631838|PMID:25741868|PMID:25851998|PMID:26542245|PMID:27159400|PMID:27513193|PMID:27753196|PMID:28475857|PMID:28492532|PMID:28892148|PMID:31441589|PMID:32581362|PMID:33077954 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:10762 portal hypertension treatment ISO RGD:68371 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis PMID:24404143|REF_RGD_ID:10041031 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:10763 hypertension ISO RGD:68371 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:kidney PMID:23323219|REF_RGD_ID:10041025 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:10763 hypertension ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19289642 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:10952 nephritis ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:22696604|REF_RGD_ID:7245508 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:11054 urinary bladder cancer ISO RGD:68533 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:11054 urinary bladder cancer treatment ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:19261747|REF_RGD_ID:10040979 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:11446 sciatic neuropathy ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:20452291|REF_RGD_ID:10041037 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:12118 pulmonary hemosiderosis ISO RGD:68533 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic pulmonary hemosiderosis PMID:25741868 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:13139 crescentic glomerulonephritis ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:21403644|REF_RGD_ID:7245940 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:13316 exocrine pancreatic insufficiency ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29384525 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:13949 interstitial cystitis ISO RGD:68533 D RGD:9068941 20200609 RGD PMID:22738385|REF_RGD_ID:7245526 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:1793 pancreatic cancer ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:23149918|REF_RGD_ID:10040959 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:1824 status epilepticus ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:23724051|REF_RGD_ID:10041026 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:1824 status epilepticus ISO RGD:68371 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:hippocampus PMID:23211629|REF_RGD_ID:7175521 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:1826 epilepsy ISO RGD:68533 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:27830187|PMID:28492532 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:1909 melanoma ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:20190810|PMID:24631838|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:1936 atherosclerosis ameliorates ISO RGD:68534 D RGD:9068941 20230330 RGD ApoE knockout mice PMID:30529164|REF_RGD_ID:243048424 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:219 colon cancer treatment ISO RGD:68371 D RGD:9068941 20210611 RGD PMID:33360052|REF_RGD_ID:127229954 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:224 transient cerebral ischemia treatment ISO RGD:68371 D RGD:9068941 20230105 RGD PMID:30712471|REF_RGD_ID:155791663 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:2671 transitional cell carcinoma ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:24625776 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:2797 idiopathic interstitial pneumonia ISO RGD:68533 D RGD:9068941 20200609 RGD PMID:21444868|REF_RGD_ID:7245946 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:28 endocrine system disease ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29384525 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:299 adenocarcinoma ISO RGD:68533 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:18058806|PMID:33129824 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:3021 acute kidney failure ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:23022334|REF_RGD_ID:7245507 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:3068 glioblastoma ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:20190810|PMID:22729223|PMID:24631838|PMID:25599672|PMID:25741868|PMID:25799227|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187|PMID:28492532|PMID:28864461|PMID:28892148|PMID:29281825 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:3070 high grade glioma severity ISO RGD:68533 D RGD:9068941 20200609 RGD PMID:20878445|REF_RGD_ID:13702868 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:3328 temporal lobe epilepsy ISO RGD:68371 D RGD:9068941 20200609 RGD associated with Status Epilepticus PMID:19474323|REF_RGD_ID:10041000 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:3371 chondrosarcoma disease_progression ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:22761648|REF_RGD_ID:10040952 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:3525 middle cerebral artery infarction ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:24583056|REF_RGD_ID:10040971 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:21185267|PMID:23777415|REF_RGD_ID:10040974|REF_RGD_ID:10041016 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:3602 toxic encephalopathy ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16955484 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:363 uterine cancer ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:20190810|PMID:24631838|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:3717 gastric adenocarcinoma ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:26619011 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:3770 pulmonary fibrosis ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28936961 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:4450 renal cell carcinoma ISO RGD:68533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:20190810|PMID:22729223|PMID:24631838|PMID:25599672|PMID:25741868|PMID:25799227|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187|PMID:28492532|PMID:28864461|PMID:28892148|PMID:29281825 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:4451 renal carcinoma ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal carcinoma PMID:17360675|PMID:20190810|PMID:24622468|PMID:24631838|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27482884|PMID:27830187|PMID:29281825 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:68533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:20190810|PMID:24631838|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:4905 pancreatic carcinoma treatment ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:25425965|REF_RGD_ID:11570510 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:5199 ureteral obstruction ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:22085202|REF_RGD_ID:10041001 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:68533 D RGD:9068941 20200609 RGD DNA:SNP: :rs2536(human) PMID:28280736|REF_RGD_ID:13825123 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:5419 schizophrenia ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:5419 schizophrenia treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:23027611|REF_RGD_ID:10041022 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19246562 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:5844 myocardial infarction ISO RGD:68371 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:heart PMID:20352476|REF_RGD_ID:10041035 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:5844 myocardial infarction treatment ISO RGD:68371 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23773982|REF_RGD_ID:10041040 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:6000 congestive heart failure ISO RGD:68533 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart PMID:20861467|REF_RGD_ID:10003169 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:630 genetic disease ISO RGD:68533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23636326|PMID:24631838|PMID:25741868|PMID:25851998|PMID:26542245|PMID:27159400|PMID:27513193|PMID:27753196|PMID:28475857|PMID:28492532|PMID:28892148|PMID:31441589|PMID:32581362|PMID:33077954 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:6432 pulmonary hypertension ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:23470622|REF_RGD_ID:10041039 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:684 hepatocellular carcinoma ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:684 hepatocellular carcinoma severity ISO RGD:68533 D RGD:9068941 20220623 RGD mRNA, protein:increased expression:liver (human) PMID:25371154|REF_RGD_ID:152995471 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:767 muscular atrophy treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:19260063|REF_RGD_ID:10041027 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:783 end stage renal disease treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:22427849|REF_RGD_ID:10040968 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:8398 osteoarthritis ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:24651621|REF_RGD_ID:10003163 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:8398 osteoarthritis treatment ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:22084394|REF_RGD_ID:10003165 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:8411 kidney angiomyolipoma treatment ISO RGD:68533 D RGD:9068941 20200609 RGD associated with Tuberous Sclerosis PMID:23054313|REF_RGD_ID:7245506 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:8725 vascular dementia ISO RGD:68371 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:23053837|REF_RGD_ID:10401142 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:8923 skin melanoma ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:20190810|PMID:24631838|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:68533 D RGD:9068941 20200609 RGD PMID:23195001|REF_RGD_ID:7245504 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:20678995|REF_RGD_ID:10040962 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9000081 Lymphatic Metastasis ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9000310 Lung Injury ISO RGD:68533 D RGD:9068941 20200609 RGD PMID:22483544|REF_RGD_ID:7245567 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9000547 CEBALID Syndrome ISO RGD:68533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CEBALID syndrome | ClinVar Annotator: match by term: MN1 C-TERMINAL TRUNCATION SYNDROME PMID:22729223|PMID:23636326|PMID:24625776|PMID:24631838|PMID:25599672|PMID:25741868|PMID:25799227|PMID:25851998|PMID:26542245|PMID:26619011|PMID:27159400|PMID:27513193|PMID:27753196|PMID:27830187|PMID:28475857|PMID:28492532|PMID:28892148|PMID:29051493|PMID:30569621|PMID:31441589|PMID:32581362|PMID:33077954 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9000887 Muscular Dystrophy, Animal ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:20008564|REF_RGD_ID:10040985 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:68371 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:23149918|REF_RGD_ID:10040959 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:25454463|REF_RGD_ID:10040998 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:24204984|REF_RGD_ID:10041042 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9002153 Chronic Allograft Dysfunction treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:23985719|REF_RGD_ID:10041002 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9002165 Diabetic Nephropathies ISO RGD:68371 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23827786|REF_RGD_ID:10003168 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9002165 Diabetic Nephropathies ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:21606597|REF_RGD_ID:7245564 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:68533 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :rs7212142(human) PMID:28536139|REF_RGD_ID:13506787 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9002211 Hyperalgesia ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:24382350|REF_RGD_ID:10040983 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:68533 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:33129824 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9002457 Experimental Arthritis treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:22391142|REF_RGD_ID:10041007 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:24602288|REF_RGD_ID:10041041 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9002762 Ovarian Neoplasms ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20138251|PMID:30705370 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9002928 Colonic Neoplasms ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:20190810|PMID:24631838|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9003566 Mesothelioma ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21358348 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9003816 Macrocephaly ISO RGD:68533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:28492532|PMID:33077954|PMID:34197453 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9003936 Cardiomegaly ISO RGD:68371 D RGD:9068941 20200609 RGD associated with Aortic Valve Stenosis PMID:20861467|REF_RGD_ID:10003169 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9004356 Smith-Kingsmore Syndrome ISO RGD:68533 D RGD:7240710 20180130 OMIM 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9004356 Smith-Kingsmore Syndrome ISO RGD:68533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MINDS SYNDROME | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder, MTOR related | ClinVar Annotator: match by term: Smith-Kingsmore syndrome PMID:17576681|PMID:21210909|PMID:23322780|PMID:23636326|PMID:24631838|PMID:25741868|PMID:25799227|PMID:25851998|PMID:26542245|PMID:26619011|PMID:27159400|PMID:27279227|PMID:27482884|PMID:27513193|PMID:27753196|PMID:27830187|PMID:28475857|PMID:28492532|PMID:28554332|PMID:28892148|PMID:29051493|PMID:29281825|PMID:31441589|PMID:31444548|PMID:32581362|PMID:33077954|PMID:9536098 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68533 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9004484 Sepsis ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:20577146|REF_RGD_ID:10041013 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:15367823|REF_RGD_ID:1582609 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19289642 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9005172 Lung Neoplasms treatment ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:19966866|REF_RGD_ID:11568678 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:22349822|REF_RGD_ID:10040957 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9005290 Diabetes Mellitus, New-Onset after Transplantation ISO RGD:68533 D RGD:9068941 20200609 RGD PMID:22645144|REF_RGD_ID:10040997 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9005369 Hepatomegaly ISO RGD:68533 D RGD:9068941 20210312 CTD CTD Direct Evidence: therapeutic PMID:30641053 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9005372 Inflammation treatment ISO RGD:68371 D RGD:9068941 20200609 RGD associated with Status Epilepticus PMID:23211629|REF_RGD_ID:7175521 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:68371 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:muscle PMID:28536139|REF_RGD_ID:13506787 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:21357504|REF_RGD_ID:10041003 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9006281 Temporomandibular Joint Disorders ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:23386193|REF_RGD_ID:10041017 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9006599 Hypertriglyceridemia ISO RGD:68371 D RGD:9068941 20200609 RGD associated with Insulin Resistance PMID:20566415|REF_RGD_ID:10040984 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:68534 D RGD:9068941 20230302 RGD PMID:36044268|REF_RGD_ID:156430337 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:68533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:20190810|PMID:22729223|PMID:24631838|PMID:25599672|PMID:25741868|PMID:25799227|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187|PMID:28492532|PMID:28864461|PMID:28892148|PMID:29281825 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9007730 Burns ISO RGD:68371 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:skeletal muscle PMID:20594757|REF_RGD_ID:10041043 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9007748 Retinal Neovascularization ISO RGD:68534 D RGD:9068941 20200609 RGD associated with Oxygen-Induced Retinopathy PMID:25366488|REF_RGD_ID:10003164 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:20190810|PMID:24631838|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9008237 Hemimegalencephaly ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Unilateral Megalencephaly PMID:24631838|PMID:25799227|PMID:26619011|PMID:28864461|PMID:29281825 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9008394 Drug-Induced Dyskinesia treatment ISO RGD:68371 D RGD:9068941 20200609 RGD associated with Parkinsonian Disorders PMID:23938307|REF_RGD_ID:10040953 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:68533 D RGD:7240710 20190315 OMIM 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:68533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia type 2 PMID:17360675|PMID:17576681|PMID:20190810|PMID:23636326|PMID:24631838|PMID:25741868|PMID:25799227|PMID:25851998|PMID:25878179|PMID:26018084|PMID:26542245|PMID:26619011|PMID:27159400|PMID:27482884|PMID:27513193|PMID:27753196|PMID:27830187|PMID:28475857|PMID:28492532|PMID:28892148|PMID:29281825|PMID:30569621|PMID:31441589|PMID:32581362|PMID:33077954|PMID:9536098 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9008443 Colorectal Neoplasms ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:20190810|PMID:24631838|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9008782 AIDS-Associated Nephropathy ISO RGD:68533 D RGD:9068941 20200609 RGD PMID:23678040|REF_RGD_ID:7245474 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9008782 AIDS-Associated Nephropathy ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:23678040|REF_RGD_ID:7245474 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9008939 Breast Neoplasms ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:22729223|PMID:24631838|PMID:25599672|PMID:25741868|PMID:25799227|PMID:26619011|PMID:28492532|PMID:28864461|PMID:28892148|PMID:29281825 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:68371 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:hippocampus PMID:23165862|REF_RGD_ID:13506788 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:68533 D RGD:9068941 20200609 RGD DNA:SNP: :rs7212142(human) PMID:28536139|REF_RGD_ID:13506787 12225589 MTOR mechanistic target of rapamycin kinase gene DOID:9970 obesity ISO RGD:68371 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:hypothalamus PMID:25807795|REF_RGD_ID:11570513 12225655 IFT57 intraflagellar transport 57 gene DOID:12858 Huntington's disease ISO RGD:1314280 D RGD:9068941 20200609 RGD protein:altered localization:cilia PMID:25989602|REF_RGD_ID:13432581 12225655 IFT57 intraflagellar transport 57 gene DOID:630 genetic disease ISO RGD:1314279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12225655 IFT57 intraflagellar transport 57 gene DOID:9006510 Orofaciodigital Syndrome XVIII ISO RGD:1314279 D RGD:7240710 20190315 OMIM 12225655 IFT57 intraflagellar transport 57 gene DOID:9006510 Orofaciodigital Syndrome XVIII ISO RGD:1314279 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome 18 PMID:25741868|PMID:27060890|PMID:28492532|PMID:32860008 12225670 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:0050573 2-hydroxyglutaric aciduria IAGP D RGD:12801476 20210603 OMIA L-2-hydroxyglutaricacidemia PMID:11708646|PMID:12892307|PMID:12892272|PMID:15715007|PMID:17475916|PMID:18295785|PMID:20852250|PMID:22843824|PMID:22834903|PMID:24830757|PMID:27729589 12225670 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:0050574 L-2-hydroxyglutaric aciduria ISO RGD:1314761 D RGD:7240710 20180307 OMIM 12225670 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:0050574 L-2-hydroxyglutaric aciduria ISO RGD:1314761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria PMID:15385440|PMID:15548604|PMID:16134148|PMID:16199547|PMID:17576681|PMID:18362286|PMID:18414213|PMID:18415700|PMID:18780161|PMID:19863265|PMID:19911013|PMID:20052767|PMID:21937992|PMID:22030381|PMID:24573090|PMID:25033591|PMID:25741868|PMID:26467025|PMID:26829733|PMID:28492532|PMID:29458334|PMID:32626804|PMID:9536098 12225670 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:0050753 cerebellar ataxia ISO RGD:1314761 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.241A4G(p.K81E)(human) PMID:24573090|REF_RGD_ID:13506824 12225670 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:0060587 Noonan syndrome 9 ISO RGD:1314761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Noonan syndrome 9 PMID:28492532 12225670 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:0111040 glycogen storage disease IXd ISO RGD:1314761 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXd PMID:16134148|PMID:20052767|PMID:25741868|PMID:28492532 12225670 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:1059 intellectual disability ISO RGD:1314761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12225670 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:11832 visual epilepsy ISO RGD:1314761 D RGD:9068941 20200609 RGD DNA:mutations:exons:c.1015delA,c.1319C>A, c.169G>A(human) PMID:24894778|REF_RGD_ID:13506818 12225670 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:1826 epilepsy ISO RGD:1314761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15385440 12225670 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:2476 hereditary spastic paraplegia ISO RGD:1314761 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.241A4G(p.K81E)(human) PMID:24573090|REF_RGD_ID:13506824 12225670 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:630 genetic disease ISO RGD:1314761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 12225670 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314761 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12225670 L2HGDH L-2-hydroxyglutarate dehydrogenase gene DOID:9006534 Nervous System Malformations ISO RGD:1314761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15385440 12225685 ZMYND12 zinc finger MYND-type containing 12 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1316209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12225685 ZMYND12 zinc finger MYND-type containing 12 gene DOID:630 genetic disease ISO RGD:1316209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225704 DTNB dystrobrevin beta gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1319991 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 12225704 DTNB dystrobrevin beta gene DOID:630 genetic disease ISO RGD:1319991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225749 OSBPL10 oxysterol binding protein like 10 gene DOID:630 genetic disease ISO RGD:1350183 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28106320 12225769 KDM2B lysine demethylase 2B gene DOID:0080074 neural tube defect ISO RGD:1320990 D RGD:9068941 20200609 RGD PMID:21220025|REF_RGD_ID:9588256 12225769 KDM2B lysine demethylase 2B gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1310217 D RGD:9068941 20200609 RGD DNA:insertions:promoter:multiple (rat) PMID:18250326|REF_RGD_ID:9588252 12225769 KDM2B lysine demethylase 2B gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:1320989 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas (human) PMID:23321669|REF_RGD_ID:9588253 12225769 KDM2B lysine demethylase 2B gene DOID:5419 schizophrenia ISO RGD:1320989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 12225769 KDM2B lysine demethylase 2B gene DOID:630 genetic disease ISO RGD:1320989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225769 KDM2B lysine demethylase 2B gene DOID:9008086 Developmental Disabilities ISO RGD:1320989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12225769 KDM2B lysine demethylase 2B gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1320989 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow (human) PMID:21310926|REF_RGD_ID:9588255 12225830 DAO D-amino acid oxidase gene DOID:12849 autistic disorder ISO RGD:1350103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17629951 12225830 DAO D-amino acid oxidase gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1350103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12225830 DAO D-amino acid oxidase gene DOID:5419 schizophrenia ISO RGD:1350103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 12225830 DAO D-amino acid oxidase gene DOID:5419 schizophrenia susceptibility ISO RGD:1350103 D RGD:9068941 20200806 RGD DNA:SNPs: : PMID:14966479|REF_RGD_ID:1358627 12225830 DAO D-amino acid oxidase gene DOID:630 genetic disease ISO RGD:1350103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225830 DAO D-amino acid oxidase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12225845 DBNDD1 dysbindin domain containing 1 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1604304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12225845 DBNDD1 dysbindin domain containing 1 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1604304 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12225845 DBNDD1 dysbindin domain containing 1 gene DOID:13636 Fanconi anemia ISO RGD:1604304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 12225845 DBNDD1 dysbindin domain containing 1 gene DOID:630 genetic disease ISO RGD:1604304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225872 ATP2A3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:10763 hypertension ISO RGD:2175 D RGD:9068941 20200609 RGD PMID:11208768|REF_RGD_ID:68726 12225872 ATP2A3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:630 genetic disease ISO RGD:732893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225872 ATP2A3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:657 adenoma ISO RGD:732893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23913004 12225872 ATP2A3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2175 D RGD:9068941 20200609 RGD PMID:20122173|REF_RGD_ID:13782130 12225872 ATP2A3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12225872 ATP2A3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12225908 DPP7 dipeptidyl peptidase 7 gene DOID:0050777 Joubert syndrome ISO RGD:733882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12225908 DPP7 dipeptidyl peptidase 7 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:733882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12225908 DPP7 dipeptidyl peptidase 7 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:733882 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12225908 DPP7 dipeptidyl peptidase 7 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:733882 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12225908 DPP7 dipeptidyl peptidase 7 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12225908 DPP7 dipeptidyl peptidase 7 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:733882 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12225908 DPP7 dipeptidyl peptidase 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12225908 DPP7 dipeptidyl peptidase 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733882 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12225908 DPP7 dipeptidyl peptidase 7 gene DOID:0081097 Rafiq syndrome ISO RGD:733882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12225908 DPP7 dipeptidyl peptidase 7 gene DOID:1826 epilepsy ISO RGD:733882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12225908 DPP7 dipeptidyl peptidase 7 gene DOID:3652 Leigh disease ISO RGD:733882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12225908 DPP7 dipeptidyl peptidase 7 gene DOID:630 genetic disease ISO RGD:733882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225908 DPP7 dipeptidyl peptidase 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12225908 DPP7 dipeptidyl peptidase 7 gene DOID:9005749 Necrosis ISO RGD:733882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16725115 12225908 DPP7 dipeptidyl peptidase 7 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:733882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12225925 GSG1L GSG1 like gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 12225925 GSG1L GSG1 like gene DOID:630 genetic disease ISO RGD:1604995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225953 TOMM20L translocase of outer mitochondrial membrane 20 like gene DOID:0110992 Joubert syndrome 23 ISO RGD:1602627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 23 PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532 12225953 TOMM20L translocase of outer mitochondrial membrane 20 like gene DOID:630 genetic disease ISO RGD:1602627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225969 MMGT1 membrane magnesium transporter 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12225969 MMGT1 membrane magnesium transporter 1 gene DOID:12849 autistic disorder ISO RGD:1343591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12225969 MMGT1 membrane magnesium transporter 1 gene DOID:630 genetic disease ISO RGD:1343591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225983 UBE2D2 ubiquitin conjugating enzyme E2 D2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:69475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12225983 UBE2D2 ubiquitin conjugating enzyme E2 D2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:69475 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12225983 UBE2D2 ubiquitin conjugating enzyme E2 D2 gene DOID:630 genetic disease ISO RGD:69475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12225983 UBE2D2 ubiquitin conjugating enzyme E2 D2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12225983 UBE2D2 ubiquitin conjugating enzyme E2 D2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69475 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12226028 RPS14 ribosomal protein S14 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731753 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12226028 RPS14 ribosomal protein S14 gene DOID:0090016 chromosome 5q deletion syndrome ISO RGD:731753 D RGD:7240710 20180130 OMIM 12226028 RPS14 ribosomal protein S14 gene DOID:1227 neutropenia ISO RGD:731753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 12226028 RPS14 ribosomal protein S14 gene DOID:305 carcinoma ISO RGD:731753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12226028 RPS14 ribosomal protein S14 gene DOID:630 genetic disease ISO RGD:731753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226028 RPS14 ribosomal protein S14 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12226028 RPS14 ribosomal protein S14 gene DOID:9002669 Hypoxia ISO RGD:731753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18258771 12226028 RPS14 ribosomal protein S14 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12226028 RPS14 ribosomal protein S14 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731753 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12226040 VPS54 VPS54 subunit of GARP complex gene DOID:0050591 tooth agenesis ISO RGD:1350552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tooth agenesis 12226040 VPS54 VPS54 subunit of GARP complex gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1553179 D RGD:9068941 20220825 MouseDO OMIM:105400 12226040 VPS54 VPS54 subunit of GARP complex gene DOID:13137 Werdnig-Hoffmann disease ISO RGD:1553179 D RGD:9068941 20220825 MouseDO OMIM:253300 12226040 VPS54 VPS54 subunit of GARP complex gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1350552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12226040 VPS54 VPS54 subunit of GARP complex gene DOID:630 genetic disease ISO RGD:1350552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226040 VPS54 VPS54 subunit of GARP complex gene DOID:9002955 Nerve Degeneration ISO RGD:1350552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19693665 12226081 ODC1 ornithine decarboxylase 1 gene DOID:0060689 atrichia with papular lesions ISO RGD:1551973 D RGD:9068941 20220825 MouseDO OMIM:209500 12226081 ODC1 ornithine decarboxylase 1 gene DOID:2615 papilloma ISO RGD:731324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17928125 12226081 ODC1 ornithine decarboxylase 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:731324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 12226081 ODC1 ornithine decarboxylase 1 gene DOID:630 genetic disease ISO RGD:731324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226081 ODC1 ornithine decarboxylase 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:731324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12810952 12226081 ODC1 ornithine decarboxylase 1 gene DOID:9003013 Neurodevelopmental Disorder with Alopecia and Brain Abnormalities ISO RGD:731324 D RGD:7240710 20201111 OMIM 12226081 ODC1 ornithine decarboxylase 1 gene DOID:9003013 Neurodevelopmental Disorder with Alopecia and Brain Abnormalities ISO RGD:731324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with alopecia and brain abnormalities PMID:25741868|PMID:30239107 12226081 ODC1 ornithine decarboxylase 1 gene DOID:9004464 Skin Neoplasms ISO RGD:731324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2591024|PMID:7653998 12226081 ODC1 ornithine decarboxylase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21930798 12226097 FMO5 flavin containing dimethylaniline monoxygenase 5 gene DOID:0060041 autism spectrum disorder ISO RGD:733168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 12226097 FMO5 flavin containing dimethylaniline monoxygenase 5 gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:733168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome 12226097 FMO5 flavin containing dimethylaniline monoxygenase 5 gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:733168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 12226097 FMO5 flavin containing dimethylaniline monoxygenase 5 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:733168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 12226097 FMO5 flavin containing dimethylaniline monoxygenase 5 gene DOID:1540 parathyroid carcinoma ISO RGD:733168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12226097 FMO5 flavin containing dimethylaniline monoxygenase 5 gene DOID:5419 schizophrenia ISO RGD:733168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12226097 FMO5 flavin containing dimethylaniline monoxygenase 5 gene DOID:630 genetic disease ISO RGD:733168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226097 FMO5 flavin containing dimethylaniline monoxygenase 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12226097 FMO5 flavin containing dimethylaniline monoxygenase 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12226113 EIF1AD eukaryotic translation initiation factor 1A domain containing gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1601944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 12226113 EIF1AD eukaryotic translation initiation factor 1A domain containing gene DOID:0081334 Nestor-Guillermo progeria syndrome ISO RGD:1601944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome 12226113 EIF1AD eukaryotic translation initiation factor 1A domain containing gene DOID:1059 intellectual disability ISO RGD:1601944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12226113 EIF1AD eukaryotic translation initiation factor 1A domain containing gene DOID:1909 melanoma ISO RGD:1601944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12226113 EIF1AD eukaryotic translation initiation factor 1A domain containing gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1601944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12226113 EIF1AD eukaryotic translation initiation factor 1A domain containing gene DOID:2746 glycogen storage disease V ISO RGD:1601944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12226113 EIF1AD eukaryotic translation initiation factor 1A domain containing gene DOID:630 genetic disease ISO RGD:1601944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226113 EIF1AD eukaryotic translation initiation factor 1A domain containing gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1601944 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12226113 EIF1AD eukaryotic translation initiation factor 1A domain containing gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1601944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12226123 FIBP FGF1 intracellular binding protein gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1353732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 12226123 FIBP FGF1 intracellular binding protein gene DOID:1059 intellectual disability ISO RGD:1353732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12226123 FIBP FGF1 intracellular binding protein gene DOID:12270 coloboma ISO RGD:1353732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coloboma of eye PMID:26660953 12226123 FIBP FGF1 intracellular binding protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12226123 FIBP FGF1 intracellular binding protein gene DOID:2746 glycogen storage disease V ISO RGD:1353732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12226123 FIBP FGF1 intracellular binding protein gene DOID:630 genetic disease ISO RGD:1353732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226123 FIBP FGF1 intracellular binding protein gene DOID:8927 learning disability ISO RGD:1353732 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Learning disability PMID:26660953 12226123 FIBP FGF1 intracellular binding protein gene DOID:9001487 Facies ISO RGD:1353732 D RGD:8554872 20221018 ClinVar ClinVar Annotator: match by term: facial dysmorphism PMID:26660953 12226123 FIBP FGF1 intracellular binding protein gene DOID:9003816 Macrocephaly ISO RGD:1353732 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:26660953 12226123 FIBP FGF1 intracellular binding protein gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1353732 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12226123 FIBP FGF1 intracellular binding protein gene DOID:9007012 THAUVIN-ROBINET-FAIVRE SYNDROME ISO RGD:1353732 D RGD:7240710 20190315 OMIM 12226123 FIBP FGF1 intracellular binding protein gene DOID:9007012 THAUVIN-ROBINET-FAIVRE SYNDROME ISO RGD:1353732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndrome PMID:25741868|PMID:26660953|PMID:27183861 12226123 FIBP FGF1 intracellular binding protein gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1353732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12226137 CDHR4 cadherin related family member 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12226137 CDHR4 cadherin related family member 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12226137 CDHR4 cadherin related family member 4 gene DOID:630 genetic disease ISO RGD:1605792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226137 CDHR4 cadherin related family member 4 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1605792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12226207 MFSD4A major facilitator superfamily domain containing 4A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1605282 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12226207 MFSD4A major facilitator superfamily domain containing 4A gene DOID:12849 autistic disorder ISO RGD:1605282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12226207 MFSD4A major facilitator superfamily domain containing 4A gene DOID:1540 parathyroid carcinoma ISO RGD:1605282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12226207 MFSD4A major facilitator superfamily domain containing 4A gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1605282 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 12226207 MFSD4A major facilitator superfamily domain containing 4A gene DOID:630 genetic disease ISO RGD:1605282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226207 MFSD4A major facilitator superfamily domain containing 4A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1605282 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12226207 MFSD4A major facilitator superfamily domain containing 4A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12226221 RC3H1 ring finger and CCCH-type domains 1 gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1557447 D RGD:9068941 20220825 MouseDO 12226221 RC3H1 ring finger and CCCH-type domains 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1604740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12226221 RC3H1 ring finger and CCCH-type domains 1 gene DOID:3755 antithrombin III deficiency ISO RGD:1604740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 12226221 RC3H1 ring finger and CCCH-type domains 1 gene DOID:630 genetic disease ISO RGD:1604740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226221 RC3H1 ring finger and CCCH-type domains 1 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1604740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 12226221 RC3H1 ring finger and CCCH-type domains 1 gene DOID:9004766 Familial Hemophagocytic Lymphohistiocytosis 6 ISO RGD:1604740 D RGD:7240710 20200930 OMIM 12226221 RC3H1 ring finger and CCCH-type domains 1 gene DOID:9004766 Familial Hemophagocytic Lymphohistiocytosis 6 ISO RGD:1604740 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 6 PMID:25741868 12226221 RC3H1 ring finger and CCCH-type domains 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1604740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 12226221 RC3H1 ring finger and CCCH-type domains 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1557447 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12226221 RC3H1 ring finger and CCCH-type domains 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12226249 IFT172 intraflagellar transport 172 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:731569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12226249 IFT172 intraflagellar transport 172 gene DOID:0050651 atrioventricular septal defect ISO RGD:1552058 D RGD:9068941 20220825 MouseDO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 12226249 IFT172 intraflagellar transport 172 gene DOID:0050777 Joubert syndrome ISO RGD:731569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:24140113|PMID:25741868|PMID:26092869 12226249 IFT172 intraflagellar transport 172 gene DOID:0081009 Bardet-Biedl syndrome 20 ISO RGD:731569 D RGD:7240710 20210818 OMIM 12226249 IFT172 intraflagellar transport 172 gene DOID:0081009 Bardet-Biedl syndrome 20 ISO RGD:731569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 20 PMID:24290075|PMID:25168386|PMID:25741868|PMID:26763875|PMID:28492532|PMID:31587445|PMID:32451492 12226249 IFT172 intraflagellar transport 172 gene DOID:0081011 Bardet-Biedl syndrome 22 ISO RGD:731569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 22 PMID:24290075|PMID:25741868|PMID:28492532|PMID:31587445|PMID:32451492 12226249 IFT172 intraflagellar transport 172 gene DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly ISO RGD:731569 D RGD:7240710 20180130 OMIM 12226249 IFT172 intraflagellar transport 172 gene DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly ISO RGD:731569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with polydactyly | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 without polydactyly PMID:11030072|PMID:16199547|PMID:17576681|PMID:24033266|PMID:24140113|PMID:24290075|PMID:25168386|PMID:25640679|PMID:25664603|PMID:25741868|PMID:26092869|PMID:26893459|PMID:28492532|PMID:28559085|PMID:29068549|PMID:31054281|PMID:31475041|PMID:31587445|PMID:32451492|PMID:32783370|PMID:32939031|PMID:33393400|PMID:34567078|PMID:9536098 12226249 IFT172 intraflagellar transport 172 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:731569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:24140113|PMID:25741868|PMID:28492532|PMID:29068549 12226249 IFT172 intraflagellar transport 172 gene DOID:0110363 retinitis pigmentosa 71 ISO RGD:731569 D RGD:7240710 20180130 OMIM 12226249 IFT172 intraflagellar transport 172 gene DOID:0110363 retinitis pigmentosa 71 ISO RGD:731569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 71 PMID:16199547|PMID:24140113|PMID:25168386|PMID:25741868|PMID:28492532|PMID:32783370 12226249 IFT172 intraflagellar transport 172 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:731569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459|PMID:28492532 12226249 IFT172 intraflagellar transport 172 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:731569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12226249 IFT172 intraflagellar transport 172 gene DOID:10584 retinitis pigmentosa ISO RGD:731569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11030072|PMID:24140113|PMID:25664603|PMID:25741868|PMID:28492532 12226249 IFT172 intraflagellar transport 172 gene DOID:12712 nephronophthisis ISO RGD:731569 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868 12226249 IFT172 intraflagellar transport 172 gene DOID:14679 VACTERL association ISO RGD:1552058 D RGD:9068941 20220825 MouseDO OMIM:192350 | OMIM:276950 12226249 IFT172 intraflagellar transport 172 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:731569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:24033266|PMID:24140113|PMID:25168386|PMID:25741868|PMID:28492532 12226249 IFT172 intraflagellar transport 172 gene DOID:630 genetic disease ISO RGD:731569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31475041 12226249 IFT172 intraflagellar transport 172 gene DOID:8466 retinal degeneration ISO RGD:1552058 D RGD:9068941 20220825 MouseDO 12226249 IFT172 intraflagellar transport 172 gene DOID:8501 fundus dystrophy ISO RGD:731569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24140113|PMID:25741868|PMID:28492532|PMID:28559085 12226249 IFT172 intraflagellar transport 172 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731569 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 12226249 IFT172 intraflagellar transport 172 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12226302 NOCT nocturnin gene DOID:630 genetic disease ISO RGD:1349348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226302 NOCT nocturnin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12226319 SYTL1 synaptotagmin like 1 gene DOID:630 genetic disease ISO RGD:1321784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226341 ARID1A AT-rich interaction domain 1A gene DOID:0050902 medulloblastoma ISO RGD:1321437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26822237 12226341 ARID1A AT-rich interaction domain 1A gene DOID:0050934 ovarian clear cell carcinoma treatment ISO RGD:1321437 D RGD:9068941 20210409 RGD human cell in mouse model PMID:21900401|REF_RGD_ID:126725086 12226341 ARID1A AT-rich interaction domain 1A gene DOID:0060041 autism spectrum disorder ISO RGD:1321437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 12226341 ARID1A AT-rich interaction domain 1A gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 12226341 ARID1A AT-rich interaction domain 1A gene DOID:0060857 septooptic dysplasia ISO RGD:1321437 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:25741868|PMID:35885948 12226341 ARID1A AT-rich interaction domain 1A gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1321437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 PMID:22426308|PMID:25741868 12226341 ARID1A AT-rich interaction domain 1A gene DOID:0070044 Coffin-Siris syndrome 2 ISO RGD:1321437 D RGD:7240710 20180130 OMIM 12226341 ARID1A AT-rich interaction domain 1A gene DOID:0070044 Coffin-Siris syndrome 2 ISO RGD:1321437 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 PMID:18414213|PMID:22426308|PMID:23010866|PMID:23556151|PMID:23637025|PMID:23906836|PMID:23929686|PMID:24728327|PMID:25168959|PMID:25169878|PMID:25326635|PMID:25741868|PMID:28262751|PMID:28492532|PMID:30123105|PMID:35353340 12226341 ARID1A AT-rich interaction domain 1A gene DOID:0070338 cerebellar hypoplasia ISO RGD:1321437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:28492532 12226341 ARID1A AT-rich interaction domain 1A gene DOID:0080199 colorectal carcinoma onset ISO RGD:1321437 D RGD:9068941 20210430 RGD protein:decreased expression:colorectum (human) PMID:24925223|REF_RGD_ID:126790632 12226341 ARID1A AT-rich interaction domain 1A gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12226341 ARID1A AT-rich interaction domain 1A gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 12226341 ARID1A AT-rich interaction domain 1A gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1321437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12226341 ARID1A AT-rich interaction domain 1A gene DOID:10534 stomach cancer ISO RGD:1321437 D RGD:9068941 20210430 RGD mRNA:decreased expression:stomach (human) PMID:29317648|REF_RGD_ID:126781705 12226341 ARID1A AT-rich interaction domain 1A gene DOID:10534 stomach cancer ISO RGD:1321437 D RGD:9068941 20210430 RGD protein:decreased expression:stomach (human) PMID:28031120|REF_RGD_ID:125097489 12226341 ARID1A AT-rich interaction domain 1A gene DOID:10534 stomach cancer disease_progression ISO RGD:1321437 D RGD:9068941 20210423 RGD associated with Epstein-Barr Virus Infections;protein:decreased expression:stomach (human) PMID:22915242|REF_RGD_ID:126781706 12226341 ARID1A AT-rich interaction domain 1A gene DOID:10534 stomach cancer disease_progression ISO RGD:1321437 D RGD:9068941 20210430 RGD protein:decreased expression:stomach (human) PMID:26067140|PMID:26468418|PMID:30747208|PMID:32387347|REF_RGD_ID:126781704|REF_RGD_ID:126781773|REF_RGD_ID:126790633|REF_RGD_ID:126790641 12226341 ARID1A AT-rich interaction domain 1A gene DOID:10534 stomach cancer exacerbates ISO RGD:1321437 D RGD:9068941 20210430 RGD associated with Epstein-Barr Virus Infections;protein:decreased expression:stomach (human) PMID:30664822|REF_RGD_ID:126848733 12226341 ARID1A AT-rich interaction domain 1A gene DOID:10534 stomach cancer exacerbates ISO RGD:1321437 D RGD:9068941 20210430 RGD protein:decreased expression:stomach (human) PMID:26637902|PMID:29689245|REF_RGD_ID:126781725|REF_RGD_ID:126848744 12226341 ARID1A AT-rich interaction domain 1A gene DOID:10534 stomach cancer susceptibility ISO RGD:1321437 D RGD:9068941 20210430 RGD DNA:missense mutation, nonsense mutation:exon 9: Pro912Thr (C>A), Gln920Ter (C >T) (Human) PMID:32377988|REF_RGD_ID:126848772 12226341 ARID1A AT-rich interaction domain 1A gene DOID:10534 stomach cancer treatment ISO RGD:1321437 D RGD:9068941 20210402 RGD human gene in mouse model PMID:27323812|REF_RGD_ID:125097523 12226341 ARID1A AT-rich interaction domain 1A gene DOID:1059 intellectual disability ISO RGD:1321437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 12226341 ARID1A AT-rich interaction domain 1A gene DOID:1059 intellectual disability ISO RGD:1321437 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 12226341 ARID1A AT-rich interaction domain 1A gene DOID:10591 pre-eclampsia disease_progression ISO RGD:1321437 D RGD:9068941 20230413 RGD associated with Fetal Growth Retardation; protein:increased expression:placenta, nucleus (human) PMID:32529396|REF_RGD_ID:243065143 12226341 ARID1A AT-rich interaction domain 1A gene DOID:10907 microcephaly ISO RGD:1321437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12226341 ARID1A AT-rich interaction domain 1A gene DOID:11054 urinary bladder cancer ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 12226341 ARID1A AT-rich interaction domain 1A gene DOID:13088 periventricular leukomalacia ISO RGD:1321437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Periventricular leukomalacia PMID:25741868|PMID:28492532 12226341 ARID1A AT-rich interaction domain 1A gene DOID:1324 lung cancer ISO RGD:1321437 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12226341 ARID1A AT-rich interaction domain 1A gene DOID:1380 endometrial cancer onset ISO RGD:1321437 D RGD:9068941 20210409 RGD protein:decreased expression:endometrium (human) PMID:23887303|REF_RGD_ID:126779522 12226341 ARID1A AT-rich interaction domain 1A gene DOID:1612 breast cancer treatment ISO RGD:1321437 D RGD:9068941 20210507 RGD human cells in mouse model PMID:26069190|REF_RGD_ID:11072938 12226341 ARID1A AT-rich interaction domain 1A gene DOID:1826 epilepsy ISO RGD:1321437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12226341 ARID1A AT-rich interaction domain 1A gene DOID:1925 Coffin-Siris syndrome ISO RGD:1321437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome PMID:25741868 12226341 ARID1A AT-rich interaction domain 1A gene DOID:2154 nephroblastoma ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 12226341 ARID1A AT-rich interaction domain 1A gene DOID:219 colon cancer treatment ISO RGD:1321437 D RGD:9068941 20210507 RGD human cells in mouse model PMID:26069190|REF_RGD_ID:11072938 12226341 ARID1A AT-rich interaction domain 1A gene DOID:234 colon adenocarcinoma disease_progression ISO RGD:1321437 D RGD:9068941 20210430 RGD protein:decreased expression:colorectum (human) PMID:26980037|REF_RGD_ID:126790569 12226341 ARID1A AT-rich interaction domain 1A gene DOID:2671 transitional cell carcinoma ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 12226341 ARID1A AT-rich interaction domain 1A gene DOID:2870 endometrial adenocarcinoma treatment ISO RGD:1321437 D RGD:9068941 20210409 RGD human cell in mouse model PMID:21900401|REF_RGD_ID:126725086 12226341 ARID1A AT-rich interaction domain 1A gene DOID:299 adenocarcinoma ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 12226341 ARID1A AT-rich interaction domain 1A gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29376028 12226341 ARID1A AT-rich interaction domain 1A gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:1321437 D RGD:9068941 20210430 RGD protein:decreased expression:stomach (human) PMID:25717252|REF_RGD_ID:126848753 12226341 ARID1A AT-rich interaction domain 1A gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:1321437 D RGD:9068941 20210409 RGD mRNA, protein:decreased expression:mucosa of stomach (human) PMID:22808142|REF_RGD_ID:125097488 12226341 ARID1A AT-rich interaction domain 1A gene DOID:3717 gastric adenocarcinoma severity ISO RGD:1321437 D RGD:9068941 20210402 RGD mRNA:decreased expression:mucosa of stomach (human) PMID:24293408|REF_RGD_ID:125097521 12226341 ARID1A AT-rich interaction domain 1A gene DOID:3907 lung squamous cell carcinoma exacerbates ISO RGD:1321437 D RGD:9068941 20210430 RGD protein:decreased expression:lung (human) PMID:32823232|REF_RGD_ID:126848760 12226341 ARID1A AT-rich interaction domain 1A gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1321437 D RGD:9068941 20210507 RGD protein:decreased expression:lung (human) PMID:24566899|REF_RGD_ID:126848781 12226341 ARID1A AT-rich interaction domain 1A gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1321437 D RGD:9068941 20210507 RGD DNA:mutations PMID:32791957|REF_RGD_ID:126848874 12226341 ARID1A AT-rich interaction domain 1A gene DOID:4907 small intestine carcinoma exacerbates ISO RGD:1321437 D RGD:9068941 20210416 RGD protein:decreased expression:small intestine (human) PMID:25400081|REF_RGD_ID:126781719 12226341 ARID1A AT-rich interaction domain 1A gene DOID:4914 esophagus adenocarcinoma ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 12226341 ARID1A AT-rich interaction domain 1A gene DOID:4914 esophagus adenocarcinoma disease_progression ISO RGD:1321437 D RGD:9068941 20210625 RGD PMID:31906887|REF_RGD_ID:127285649 12226341 ARID1A AT-rich interaction domain 1A gene DOID:4927 Klatskin's tumor disease_progression ISO RGD:1321437 D RGD:9068941 20210430 RGD DNA:deletions PMID:33387086|REF_RGD_ID:126848756 12226341 ARID1A AT-rich interaction domain 1A gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1321437 D RGD:9068941 20200609 RGD PMID:30849962|REF_RGD_ID:14974231 12226341 ARID1A AT-rich interaction domain 1A gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1321437 D RGD:9068941 20210423 RGD mRNA,protein:decreased expression:intrahepatic bile duct (human) PMID:27433094|REF_RGD_ID:126775257 12226341 ARID1A AT-rich interaction domain 1A gene DOID:4928 intrahepatic cholangiocarcinoma exacerbates ISO RGD:1321437 D RGD:9068941 20210423 RGD protein:decreased expression:intrahepatic bile duct (human) PMID:31665232|REF_RGD_ID:126781775 12226341 ARID1A AT-rich interaction domain 1A gene DOID:4947 cholangiocarcinoma ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24185509 12226341 ARID1A AT-rich interaction domain 1A gene DOID:5517 stomach carcinoma disease_progression ISO RGD:1321437 D RGD:9068941 20210423 RGD protein:decreased expression:stomach (human) PMID:24767857|REF_RGD_ID:125097484 12226341 ARID1A AT-rich interaction domain 1A gene DOID:5744 ovary serous adenocarcinoma ISO RGD:1321437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary low grade serous adenocarcinoma of ovary 12226341 ARID1A AT-rich interaction domain 1A gene DOID:630 genetic disease ISO RGD:1321437 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22009941|PMID:22037554|PMID:25741868|PMID:28401006|PMID:28492532 12226341 ARID1A AT-rich interaction domain 1A gene DOID:684 hepatocellular carcinoma ISO RGD:1321437 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 12226341 ARID1A AT-rich interaction domain 1A gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1321437 D RGD:9068941 20210430 RGD human gene in mouse model PMID:29136504|REF_RGD_ID:126790634 12226341 ARID1A AT-rich interaction domain 1A gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1321438 D RGD:9068941 20210423 RGD associated with non-alcoholic steatohepatitis PMID:26569409|REF_RGD_ID:11344640 12226341 ARID1A AT-rich interaction domain 1A gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1321438 D RGD:9068941 20210430 RGD PMID:29136504|REF_RGD_ID:126790634 12226341 ARID1A AT-rich interaction domain 1A gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1321438 D RGD:9068941 20210402 RGD PMID:29113912|REF_RGD_ID:125097519 12226341 ARID1A AT-rich interaction domain 1A gene DOID:687 hepatoblastoma ISO RGD:1321437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:26822237 12226341 ARID1A AT-rich interaction domain 1A gene DOID:769 neuroblastoma ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23202128 12226341 ARID1A AT-rich interaction domain 1A gene DOID:769 neuroblastoma ISO RGD:1321437 D RGD:9068941 20200609 RGD DNA:mutations,loss of heterozygosity: : PMID:23202128|REF_RGD_ID:13439724 12226341 ARID1A AT-rich interaction domain 1A gene DOID:7698 non-functioning pancreatic endocrine tumor exacerbates ISO RGD:1321437 D RGD:9068941 20210430 RGD protein:decreased expression:endocrine pancreas (human) PMID:32282764|REF_RGD_ID:126790640 12226341 ARID1A AT-rich interaction domain 1A gene DOID:8541 Sezary's disease ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 12226341 ARID1A AT-rich interaction domain 1A gene DOID:8584 Burkitt lymphoma ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 12226341 ARID1A AT-rich interaction domain 1A gene DOID:9000027 Microsatellite Instability ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 12226341 ARID1A AT-rich interaction domain 1A gene DOID:9000217 Stomach Neoplasms ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22037554|PMID:22484628|PMID:24816253 12226341 ARID1A AT-rich interaction domain 1A gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1321438 D RGD:9068941 20210402 RGD in lung; associated with hepatocellular carcinoma PMID:25975202|REF_RGD_ID:125097495 12226341 ARID1A AT-rich interaction domain 1A gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:1321438 D RGD:9068941 20210423 RGD PMID:26569409|REF_RGD_ID:11344640 12226341 ARID1A AT-rich interaction domain 1A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475|PMID:29662167 12226341 ARID1A AT-rich interaction domain 1A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12226341 ARID1A AT-rich interaction domain 1A gene DOID:9006741 Acute Hepatitis exacerbates ISO RGD:1321438 D RGD:9068941 20210423 RGD PMID:26569409|REF_RGD_ID:11344640 12226341 ARID1A AT-rich interaction domain 1A gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1321437 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:28492532 12226341 ARID1A AT-rich interaction domain 1A gene DOID:9007715 Endometrial Neoplasms ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 12226341 ARID1A AT-rich interaction domain 1A gene DOID:9008386 Hydrops Fetalis ISO RGD:1321437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 12226341 ARID1A AT-rich interaction domain 1A gene DOID:9008443 Colorectal Neoplasms ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27941798 12226341 ARID1A AT-rich interaction domain 1A gene DOID:9008939 Breast Neoplasms ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31932695 12226341 ARID1A AT-rich interaction domain 1A gene DOID:9256 colorectal cancer ISO RGD:1321437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 12226341 ARID1A AT-rich interaction domain 1A gene DOID:9256 colorectal cancer disease_progression ISO RGD:1321437 D RGD:9068941 20210409 RGD protein:decreased expression:colorectum (human) PMID:25561809|REF_RGD_ID:126779574 12226341 ARID1A AT-rich interaction domain 1A gene DOID:9256 colorectal cancer exacerbates ISO RGD:1321437 D RGD:9068941 20210409 RGD protein:decreased expression:colorectum (human) PMID:31263894|REF_RGD_ID:126777686 12226341 ARID1A AT-rich interaction domain 1A gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:1321437 D RGD:9068941 20210416 RGD protein:decreased expression:nasopharynx(human) PMID:31213911|REF_RGD_ID:126781707 12226378 PIMREG PICALM interacting mitotic regulator gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1604005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 12226378 PIMREG PICALM interacting mitotic regulator gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1604005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 12226378 PIMREG PICALM interacting mitotic regulator gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:1604005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 12226378 PIMREG PICALM interacting mitotic regulator gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1604005 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12226378 PIMREG PICALM interacting mitotic regulator gene DOID:0111010 cone-rod dystrophy 5 ISO RGD:1604005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 5 12226378 PIMREG PICALM interacting mitotic regulator gene DOID:630 genetic disease ISO RGD:1604005 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226390 DTNA dystrobrevin alpha gene DOID:0050700 cardiomyopathy ISO RGD:1343196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:28492532 12226390 DTNA dystrobrevin alpha gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1343196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 12226390 DTNA dystrobrevin alpha gene DOID:1059 intellectual disability ISO RGD:1343196 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12226390 DTNA dystrobrevin alpha gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1343196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:30086531|PMID:31568572 12226390 DTNA dystrobrevin alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:1343196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 12226390 DTNA dystrobrevin alpha gene DOID:630 genetic disease ISO RGD:1343196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12226390 DTNA dystrobrevin alpha gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1343196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:21520333|PMID:25741868|PMID:28492532 12226390 DTNA dystrobrevin alpha gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1343196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532 12226390 DTNA dystrobrevin alpha gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1343196 D RGD:7240710 20180425 OMIM 12226390 DTNA dystrobrevin alpha gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1343196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:11238270|PMID:16199547|PMID:17576681|PMID:21520333|PMID:23861362|PMID:24033266|PMID:25305078|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29118297|PMID:29247119|PMID:30086531|PMID:31568572|PMID:32746448|PMID:33500567|PMID:33789662|PMID:35148685|PMID:9536098 12226390 DTNA dystrobrevin alpha gene DOID:9849 Meniere's disease ISO RGD:1343196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:25305078|PMID:25741868|PMID:28492532 12226469 DMAC2L distal membrane arm assembly component 2 like gene DOID:0050574 L-2-hydroxyglutaric aciduria ISO RGD:1343474 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria PMID:17576681|PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 12226469 DMAC2L distal membrane arm assembly component 2 like gene DOID:630 genetic disease ISO RGD:1343474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:26467025|PMID:28492532|PMID:9536098 12226480 QPRT quinolinate phosphoribosyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:1321139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12226480 QPRT quinolinate phosphoribosyltransferase gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1321139 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12226480 QPRT quinolinate phosphoribosyltransferase gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1321139 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12226480 QPRT quinolinate phosphoribosyltransferase gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1321139 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12226480 QPRT quinolinate phosphoribosyltransferase gene DOID:12849 autistic disorder ISO RGD:1321139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12226480 QPRT quinolinate phosphoribosyltransferase gene DOID:12858 Huntington's disease ISO RGD:1310309 D RGD:9068941 20200609 RGD PMID:2527078|REF_RGD_ID:13524507 12226480 QPRT quinolinate phosphoribosyltransferase gene DOID:1882 atrial heart septal defect ISO RGD:1321139 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12226480 QPRT quinolinate phosphoribosyltransferase gene DOID:5419 schizophrenia ISO RGD:1321139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12226480 QPRT quinolinate phosphoribosyltransferase gene DOID:630 genetic disease ISO RGD:1321139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226480 QPRT quinolinate phosphoribosyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12226480 QPRT quinolinate phosphoribosyltransferase gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1321139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12226488 PRKRIP1 PRKR interacting protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12226488 PRKRIP1 PRKR interacting protein 1 gene DOID:630 genetic disease ISO RGD:1316893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226498 NAA11 N-alpha-acetyltransferase 11, NatA catalytic subunit gene DOID:630 genetic disease ISO RGD:1625645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226498 NAA11 N-alpha-acetyltransferase 11, NatA catalytic subunit gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1625645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12226509 LCMT1 leucine carboxyl methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1351587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226509 LCMT1 leucine carboxyl methyltransferase 1 gene DOID:9004994 Embryo Loss ISO RGD:1351587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17724024 12226526 CMTM6 CKLF like MARVEL transmembrane domain containing 6 gene DOID:630 genetic disease ISO RGD:1317145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226534 CRABP1 cellular retinoic acid binding protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1345653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12226534 CRABP1 cellular retinoic acid binding protein 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1345653 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:17438526 12226534 CRABP1 cellular retinoic acid binding protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:1345653 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:16254461 12226534 CRABP1 cellular retinoic acid binding protein 1 gene DOID:630 genetic disease ISO RGD:1345653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226534 CRABP1 cellular retinoic acid binding protein 1 gene DOID:9000058 Keloid ISO RGD:1345653 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12226534 CRABP1 cellular retinoic acid binding protein 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1345653 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12226534 CRABP1 cellular retinoic acid binding protein 1 gene DOID:9256 colorectal cancer ISO RGD:1345653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12226538 PPP3R2 protein phosphatase 3 regulatory subunit B, beta gene DOID:0081292 traumatic brain injury ISO RGD:69232 D RGD:9068941 20200609 RGD PMID:20713027|REF_RGD_ID:13830881 12226538 PPP3R2 protein phosphatase 3 regulatory subunit B, beta gene DOID:1059 intellectual disability ISO RGD:1346251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12226538 PPP3R2 protein phosphatase 3 regulatory subunit B, beta gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:1346251 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 12226538 PPP3R2 protein phosphatase 3 regulatory subunit B, beta gene DOID:630 genetic disease ISO RGD:1346251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226538 PPP3R2 protein phosphatase 3 regulatory subunit B, beta gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:1346251 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532 12226543 CDHR1 cadherin related family member 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:737398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:16199547|PMID:17576681|PMID:23044944|PMID:23233793|PMID:23591405|PMID:24033266|PMID:25741868|PMID:26103963|PMID:26261414|PMID:27353947|PMID:28224992|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:30718709|PMID:31387115|PMID:32681094|PMID:33546218|PMID:9536098 12226543 CDHR1 cadherin related family member 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:737398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:16199547|PMID:17576681|PMID:23044944|PMID:23233793|PMID:23591405|PMID:24033266|PMID:25741868|PMID:26103963|PMID:26261414|PMID:27353947|PMID:28224992|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:30718709|PMID:31387115|PMID:32681094|PMID:33546218|PMID:35627310|PMID:9536098 12226543 CDHR1 cadherin related family member 1 gene DOID:0050795 cone dystrophy ISO RGD:737398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25741868|PMID:26766544|PMID:28041643|PMID:28492532|PMID:28765526|PMID:30718709|PMID:33546218|PMID:35627310 12226543 CDHR1 cadherin related family member 1 gene DOID:0080600 COVID-19 ISO RGD:737398 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12226543 CDHR1 cadherin related family member 1 gene DOID:0111021 cone-rod dystrophy 15 ISO RGD:737398 D RGD:7240710 20180130 OMIM 12226543 CDHR1 cadherin related family member 1 gene DOID:0111021 cone-rod dystrophy 15 ISO RGD:737398 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 15 | ClinVar Annotator: match by term: Retinitis pigmentosa 65 PMID:16199547|PMID:17576681|PMID:20087419|PMID:20805371|PMID:23044944|PMID:23233793|PMID:23591405|PMID:24033266|PMID:24154662|PMID:25741868|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26766544|PMID:27353947|PMID:27623334|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:29785639|PMID:30576320|PMID:30718709|PMID:30992995|PMID:31387115|PMID:32681094|PMID:33546218|PMID:33691693|PMID:33946315|PMID:34926197|PMID:35627310|PMID:9536098 12226543 CDHR1 cadherin related family member 1 gene DOID:10584 retinitis pigmentosa ISO RGD:737398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:20805371|PMID:23044944|PMID:23591405|PMID:24033266|PMID:25741868|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26766544|PMID:27353947|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:30718709|PMID:31387115|PMID:32681094|PMID:33546218|PMID:9536098 12226543 CDHR1 cadherin related family member 1 gene DOID:10584 retinitis pigmentosa ISO RGD:737398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:20805371|PMID:23044944|PMID:23591405|PMID:24033266|PMID:25741868|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26766544|PMID:27353947|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:30718709|PMID:31387115|PMID:32681094|PMID:33546218|PMID:35627310|PMID:9536098 12226543 CDHR1 cadherin related family member 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:737398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:20805371|PMID:23044944|PMID:23591405|PMID:25741868|PMID:26103963|PMID:26261414|PMID:28492532|PMID:30718709 12226543 CDHR1 cadherin related family member 1 gene DOID:630 genetic disease ISO RGD:737398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12226543 CDHR1 cadherin related family member 1 gene DOID:8501 fundus dystrophy ISO RGD:737398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:17576681|PMID:20087419|PMID:23044944|PMID:23233793|PMID:23591405|PMID:24033266|PMID:25741868|PMID:26103963|PMID:26261414|PMID:26350383|PMID:26766544|PMID:27353947|PMID:27623334|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:30718709|PMID:31387115|PMID:32681094|PMID:33546218|PMID:35627310|PMID:9536098 12226563 MFSD2B MFSD2 lysolipid transporter B, sphingolipid gene DOID:630 genetic disease ISO RGD:3476989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226580 TK2 thymidine kinase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1319538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12226580 TK2 thymidine kinase 2 gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1319538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:12682338|PMID:16504786|PMID:19154348|PMID:19265691|PMID:24033266|PMID:25446393|PMID:25741868|PMID:25948719|PMID:26224072|PMID:27839525|PMID:28492532|PMID:29602790|PMID:29735374|PMID:30831263|PMID:31060578 12226580 TK2 thymidine kinase 2 gene DOID:0080120 mitochondrial DNA depletion syndrome 2 ISO RGD:1319538 D RGD:7240710 20180130 OMIM 12226580 TK2 thymidine kinase 2 gene DOID:0080120 mitochondrial DNA depletion syndrome 2 ISO RGD:1319538 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 2 PMID:25741868|PMID:28492532|PMID:29783828|PMID:33013660 12226580 TK2 thymidine kinase 2 gene DOID:0080600 COVID-19 ISO RGD:1319538 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12226580 TK2 thymidine kinase 2 gene DOID:0110255 cataract 5 multiple types ISO RGD:1319538 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 12226580 TK2 thymidine kinase 2 gene DOID:0111523 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 ISO RGD:1319538 D RGD:7240710 20190315 OMIM 12226580 TK2 thymidine kinase 2 gene DOID:0111523 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 ISO RGD:1319538 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 PMID:12655576|PMID:12682338|PMID:15907288|PMID:18819985|PMID:19265691|PMID:21937588|PMID:25326635|PMID:25741868|PMID:28492532|PMID:29602790 12226580 TK2 thymidine kinase 2 gene DOID:423 myopathy ISO RGD:1319538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy PMID:22345218 12226580 TK2 thymidine kinase 2 gene DOID:630 genetic disease ISO RGD:1319538 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12226580 TK2 thymidine kinase 2 gene DOID:699 mitochondrial myopathy ISO RGD:1319538 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial Myopathies PMID:25741868|PMID:28492532|PMID:29783828|PMID:33013660 12226580 TK2 thymidine kinase 2 gene DOID:9002774 Mitochondrial DNA Depletion Syndrome, Myopathic Form ISO RGD:1319538 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome, myopathic form PMID:11687801|PMID:12391347|PMID:12493767|PMID:12655576|PMID:12682338|PMID:12873860|PMID:15639197|PMID:15907288|PMID:16504786|PMID:16908738|PMID:1734306|PMID:17576681|PMID:18508266|PMID:18819985|PMID:19154348|PMID:19265691|PMID:19736010|PMID:20083405|PMID:20421844|PMID:21937588|PMID:22345218|PMID:23303857|PMID:23932787|PMID:23963299|PMID:24033266|PMID:24484525|PMID:25326635|PMID:25446393|PMID:25741868|PMID:25948719|PMID:26224072|PMID:26467025|PMID:26925861|PMID:27660820|PMID:27839525|PMID:28492532|PMID:28812460|PMID:29602790|PMID:29735374|PMID:29783828|PMID:31060578|PMID:31125140|PMID:33013660|PMID:9536098 12226592 RPP25 ribonuclease P and MRP subunit p25 gene DOID:12849 autistic disorder ISO RGD:1313231 D RGD:9068941 20200609 RGD mRNA:decreased expression:prefrontal cortex PMID:20632321|REF_RGD_ID:9743931 12226592 RPP25 ribonuclease P and MRP subunit p25 gene DOID:2717 Bloom syndrome ISO RGD:1313231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12226592 RPP25 ribonuclease P and MRP subunit p25 gene DOID:5419 schizophrenia ISO RGD:1313231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12226592 RPP25 ribonuclease P and MRP subunit p25 gene DOID:630 genetic disease ISO RGD:1313231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226592 RPP25 ribonuclease P and MRP subunit p25 gene DOID:9256 colorectal cancer ISO RGD:1313231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12226597 TBC1D12 TBC1 domain family member 12 gene DOID:630 genetic disease ISO RGD:1343312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226631 LARP1 La ribonucleoprotein 1, translational regulator gene DOID:630 genetic disease ISO RGD:1603686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226656 DHX32 DEAH-box helicase 32 (putative) gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1323353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12226656 DHX32 DEAH-box helicase 32 (putative) gene DOID:630 genetic disease ISO RGD:1323353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12226656 DHX32 DEAH-box helicase 32 (putative) gene DOID:9004547 Thyroid Neoplasms ISO RGD:1323353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:32989326 12226675 SOCS4 suppressor of cytokine signaling 4 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1315155 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 12226675 SOCS4 suppressor of cytokine signaling 4 gene DOID:630 genetic disease ISO RGD:1315155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226675 SOCS4 suppressor of cytokine signaling 4 gene DOID:9004009 Reperfusion Injury ISO RGD:1306503 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:17880360|REF_RGD_ID:2303397 12226686 TOR1B torsin family 1 member B gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1318195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12226686 TOR1B torsin family 1 member B gene DOID:630 genetic disease ISO RGD:1318195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226686 TOR1B torsin family 1 member B gene DOID:9001488 Human Influenza ISO RGD:1318195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12226695 CA14 carbonic anhydrase 14 gene DOID:0111940 immunodeficiency 42 ISO RGD:1317436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12226695 CA14 carbonic anhydrase 14 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1317436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12226695 CA14 carbonic anhydrase 14 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1317436 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12226695 CA14 carbonic anhydrase 14 gene DOID:1540 parathyroid carcinoma ISO RGD:1317436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12226695 CA14 carbonic anhydrase 14 gene DOID:5812 MHC class II deficiency ISO RGD:1317436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12226695 CA14 carbonic anhydrase 14 gene DOID:630 genetic disease ISO RGD:1317436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226695 CA14 carbonic anhydrase 14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12226751 DMRTC2 DMRT like family C2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1345316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12226751 DMRTC2 DMRT like family C2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1345316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12226751 DMRTC2 DMRT like family C2 gene DOID:2340 craniosynostosis ISO RGD:1345316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12226751 DMRTC2 DMRT like family C2 gene DOID:5419 schizophrenia ISO RGD:1345316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12226751 DMRTC2 DMRT like family C2 gene DOID:630 genetic disease ISO RGD:1345316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226751 DMRTC2 DMRT like family C2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1345316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12226751 DMRTC2 DMRT like family C2 gene DOID:9269 maple syrup urine disease ISO RGD:1345316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12226776 MIR506 microRNA 506 gene DOID:9008939 Breast Neoplasms ISO RGD:1603430 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:36156333 12226776 MIR506 microRNA mir-506 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603430 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12226776 MIR506 microRNA mir-506 gene DOID:12849 autistic disorder ISO RGD:1603430 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12226776 MIR506 microRNA mir-506 gene DOID:14227 azoospermia ISO RGD:1603430 D RGD:9068941 20200709 CTD CTD Direct Evidence: marker/mechanism PMID:27107421 12226776 MIR506 microRNA mir-506 gene DOID:9002170 Experimental Neoplasms ISO RGD:1603430 D RGD:9068941 20200709 CTD CTD Direct Evidence: therapeutic PMID:21726609 12226779 LCNL1 lipocalin like 1 gene DOID:0050777 Joubert syndrome ISO RGD:1601788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12226779 LCNL1 lipocalin like 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1601788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12226779 LCNL1 lipocalin like 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1601788 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12226779 LCNL1 lipocalin like 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1601788 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12226779 LCNL1 lipocalin like 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1601788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12226779 LCNL1 lipocalin like 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1601788 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12226779 LCNL1 lipocalin like 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1601788 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12226779 LCNL1 lipocalin like 1 gene DOID:0080600 COVID-19 ISO RGD:1601788 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12226779 LCNL1 lipocalin like 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1601788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12226779 LCNL1 lipocalin like 1 gene DOID:1826 epilepsy ISO RGD:1601788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12226779 LCNL1 lipocalin like 1 gene DOID:3652 Leigh disease ISO RGD:1601788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12226779 LCNL1 lipocalin like 1 gene DOID:630 genetic disease ISO RGD:1601788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226779 LCNL1 lipocalin like 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1601788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12226847 SGMS2 sphingomyelin synthase 2 gene DOID:0080721 calvarial doughnut lesions with bone fragility ISO RGD:1605563 D RGD:7240710 20190731 OMIM 12226847 SGMS2 sphingomyelin synthase 2 gene DOID:0080721 calvarial doughnut lesions with bone fragility ISO RGD:1605563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia | ClinVar Annotator: match by term: Doughnut lesions of skull, familial PMID:19839042|PMID:25741868|PMID:28492532|PMID:30779713|PMID:32028018 12226847 SGMS2 sphingomyelin synthase 2 gene DOID:630 genetic disease ISO RGD:1605563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19839042|PMID:25741868|PMID:28492532|PMID:30779713|PMID:32028018 12226847 SGMS2 sphingomyelin synthase 2 gene DOID:9001715 3-Hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:1605563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of 3-hydroxyacyl-CoA dehydrogenase PMID:28492532 12226889 TMED9 transmembrane p24 trafficking protein 9 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1344143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12226889 TMED9 transmembrane p24 trafficking protein 9 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1344143 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12226889 TMED9 transmembrane p24 trafficking protein 9 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1344143 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 12226889 TMED9 transmembrane p24 trafficking protein 9 gene DOID:630 genetic disease ISO RGD:1344143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226889 TMED9 transmembrane p24 trafficking protein 9 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:1344143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 12226889 TMED9 transmembrane p24 trafficking protein 9 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1344143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12226898 MLN motilin gene DOID:0050553 JMP syndrome ISO RGD:1347043 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12226898 MLN motilin gene DOID:0060500 drug allergy ISO RGD:1347043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16538176 12226898 MLN motilin gene DOID:630 genetic disease ISO RGD:1347043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226932 CARM1 coactivator associated arginine methyltransferase 1 gene DOID:0050868 hepatocellular adenoma ISO RGD:1305879 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:23912631|REF_RGD_ID:9586718 12226932 CARM1 coactivator associated arginine methyltransferase 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1314176 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12226932 CARM1 coactivator associated arginine methyltransferase 1 gene DOID:0060075 estrogen-receptor positive breast cancer disease_progression ISO RGD:1314176 D RGD:9068941 20200609 RGD protein:increased expression:breast: PMID:23887673|REF_RGD_ID:9586721 12226932 CARM1 coactivator associated arginine methyltransferase 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1314176 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12226932 CARM1 coactivator associated arginine methyltransferase 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1314176 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12226932 CARM1 coactivator associated arginine methyltransferase 1 gene DOID:13810 familial hypercholesterolemia ISO RGD:1314176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:28492532 12226932 CARM1 coactivator associated arginine methyltransferase 1 gene DOID:2841 asthma ISO RGD:1305879 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:20423833|REF_RGD_ID:9491823 12226932 CARM1 coactivator associated arginine methyltransferase 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1314176 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12226932 CARM1 coactivator associated arginine methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1314176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226932 CARM1 coactivator associated arginine methyltransferase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1305879 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:23912631|REF_RGD_ID:9586718 12226932 CARM1 coactivator associated arginine methyltransferase 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:1314176 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:15221992|REF_RGD_ID:2293206 12226932 CARM1 coactivator associated arginine methyltransferase 1 gene DOID:8893 psoriasis ISO RGD:1314176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143594 12226932 CARM1 coactivator associated arginine methyltransferase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314176 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:15221992|REF_RGD_ID:2293206 12226951 SWT1 SWT1 RNA endoribonuclease homolog gene DOID:11372 megacolon ISO RGD:1318617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12226951 SWT1 SWT1 RNA endoribonuclease homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1318617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12226951 SWT1 SWT1 RNA endoribonuclease homolog gene DOID:630 genetic disease ISO RGD:1318617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226951 SWT1 SWT1 RNA endoribonuclease homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12226995 COLEC12 collectin subfamily member 12 gene DOID:12849 autistic disorder ISO RGD:1347237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12226995 COLEC12 collectin subfamily member 12 gene DOID:303 substance-related disorder ISO RGD:1347237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12226995 COLEC12 collectin subfamily member 12 gene DOID:630 genetic disease ISO RGD:1347237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12226995 COLEC12 collectin subfamily member 12 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12226995 COLEC12 collectin subfamily member 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12227009 ZMYM5 zinc finger MYM-type containing 5 gene DOID:11612 polycystic ovary syndrome ISO RGD:1343268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12227009 ZMYM5 zinc finger MYM-type containing 5 gene DOID:630 genetic disease ISO RGD:1343268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227047 EXOSC5 exosome component 5 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1317301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12227047 EXOSC5 exosome component 5 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1317301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12227047 EXOSC5 exosome component 5 gene DOID:2340 craniosynostosis ISO RGD:1317301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12227047 EXOSC5 exosome component 5 gene DOID:630 genetic disease ISO RGD:1317301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227047 EXOSC5 exosome component 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:1317301 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12227047 EXOSC5 exosome component 5 gene DOID:9000918 Disease Progression ISO RGD:1317301 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12227047 EXOSC5 exosome component 5 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1317301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12227047 EXOSC5 exosome component 5 gene DOID:9003258 CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS ISO RGD:1317301 D RGD:7240710 20211208 OMIM 12227047 EXOSC5 exosome component 5 gene DOID:9003258 CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS ISO RGD:1317301 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects PMID:25741868|PMID:29302074|PMID:30950035|PMID:32504085|PMID:34089229 12227047 EXOSC5 exosome component 5 gene DOID:9269 maple syrup urine disease ISO RGD:1317301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12227057 LIN52 lin-52 DREAM MuvB core complex component gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1315617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 12227057 LIN52 lin-52 DREAM MuvB core complex component gene DOID:1059 intellectual disability ISO RGD:1315617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12227057 LIN52 lin-52 DREAM MuvB core complex component gene DOID:630 genetic disease ISO RGD:1315617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227084 TDRD12 tudor domain containing 12 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:2292096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12227084 TDRD12 tudor domain containing 12 gene DOID:630 genetic disease ISO RGD:2292096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:732524 D RGD:9068941 20200609 RGD protein:increased expression:tonsil, T cell PMID:18490405|REF_RGD_ID:4888517 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:0060500 drug allergy ISO RGD:732524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16630147 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:732524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481|PMID:17641958|PMID:20485159 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:10283 prostate cancer ISO RGD:732524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:1205 allergic disease severity ISO RGD:732524 D RGD:9068941 20200609 RGD DNA:SNP: :927T>C (human) PMID:16776674|REF_RGD_ID:4782072 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:12849 autistic disorder ISO RGD:732524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:219 colon cancer ISO RGD:732525 D RGD:9068941 20210108 RGD associated with Experimental Colitis PMID:28410235|REF_RGD_ID:40903055 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma ISO RGD:732524 D RGD:9068941 20200609 RGD PMID:11591188|PMID:8087328|REF_RGD_ID:4848936|REF_RGD_ID:4888514 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma ISO RGD:732524 D RGD:9068941 20200609 RGD DNA:SNP: :927T>C (human) PMID:17153879|REF_RGD_ID:4781742 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma ISO RGD:732524 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-634C>T, -475A>C, -336A>G (human) PMID:16630147|REF_RGD_ID:4784257 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma ISO RGD:732525 D RGD:9068941 20200609 RGD PMID:16387808|PMID:17689528|REF_RGD_ID:4781449|REF_RGD_ID:4843543 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma no_association ISO RGD:732524 D RGD:9068941 20200609 RGD DNA:SNP: :927T>C (human) PMID:16776674|REF_RGD_ID:4782072 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma no_association ISO RGD:732524 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:multiple (human) PMID:16771777|REF_RGD_ID:4889116 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma severity ISO RGD:732524 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:respiratory system mucosa PMID:16123393|REF_RGD_ID:4847129 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:2942 bronchiolitis ISO RGD:732525 D RGD:9068941 20200609 RGD associated with Pneumovirus Infections PMID:16337014|REF_RGD_ID:4843953 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:619796 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20959046|REF_RGD_ID:4781441 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:732525 D RGD:9068941 20200609 RGD associated with Pneumonia PMID:14970333|REF_RGD_ID:4847792 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:4483 rhinitis ISO RGD:732524 D RGD:9068941 20200609 RGD PMID:18946234|REF_RGD_ID:4888516 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:4483 rhinitis ISO RGD:732524 D RGD:9068941 20200609 RGD associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium PMID:16689996|REF_RGD_ID:4783198 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:4483 rhinitis ISO RGD:732525 D RGD:9068941 20200609 RGD PMID:15379985|PMID:17627772|REF_RGD_ID:4781451|REF_RGD_ID:4847512 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:630 genetic disease ISO RGD:732524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:619796 D RGD:9068941 20200609 RGD associated with Anoxia PMID:12910720|REF_RGD_ID:4848274 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:850 lung disease ISO RGD:732525 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:11325876|REF_RGD_ID:4888512 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:9000076 Closed Fractures ISO RGD:732524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19544365 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:9000113 Pneumococcal Meningitis disease_progression ISO RGD:619796 D RGD:9068941 20210219 RGD mRNA, protein:increased expression:brain (rat) PMID:31933824|REF_RGD_ID:40903068 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:9000590 Dyspnea ISO RGD:619796 D RGD:9068941 20200609 RGD PMID:2825489|REF_RGD_ID:4888515 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:732525 D RGD:9068941 20200609 RGD associated with Respiratory Syncytial Virus Infections PMID:16238585|REF_RGD_ID:4846883 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:9001472 Nasal Polyps ISO RGD:732524 D RGD:9068941 20200609 RGD associated with Asthma PMID:11591188|REF_RGD_ID:4848936 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:9001472 Nasal Polyps ISO RGD:732524 D RGD:9068941 20200609 RGD associated with Rhinitis;mRNA:increased expression:nasal cavity epithelium PMID:16689996|REF_RGD_ID:4783198 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:9001472 Nasal Polyps ISO RGD:732524 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium PMID:16739673|REF_RGD_ID:4889117 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:9002906 Multiple Organ Failure ISO RGD:619796 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:17499745|REF_RGD_ID:4781453 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:619796 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:18790177|REF_RGD_ID:4781446 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:732525 D RGD:9068941 20210108 RGD associated with Endotoxemia PMID:27703200|REF_RGD_ID:40903067 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:9005372 Inflammation ISO RGD:732524 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:12487226|REF_RGD_ID:4848616 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:9008114 Helicobacter Infections treatment ISO RGD:732524 D RGD:9068941 20210108 RGD PMID:18571838|REF_RGD_ID:40903061 12227133 CYSLTR1 cysteinyl leukotriene receptor 1 gene DOID:9415 allergic asthma treatment ISO RGD:732525 D RGD:9068941 20210108 RGD PMID:23933317|REF_RGD_ID:40903070 12227144 TTC9B tetratricopeptide repeat domain 9B gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1603894 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12227144 TTC9B tetratricopeptide repeat domain 9B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12227144 TTC9B tetratricopeptide repeat domain 9B gene DOID:1342 congenital hypoplastic anemia ISO RGD:1603894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12227144 TTC9B tetratricopeptide repeat domain 9B gene DOID:2340 craniosynostosis ISO RGD:1603894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12227144 TTC9B tetratricopeptide repeat domain 9B gene DOID:630 genetic disease ISO RGD:1603894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227144 TTC9B tetratricopeptide repeat domain 9B gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1603894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12227144 TTC9B tetratricopeptide repeat domain 9B gene DOID:9269 maple syrup urine disease ISO RGD:1603894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12227144 TTC9B tetratricopeptide repeat domain 9B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603894 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12227151 KIF5B kinesin family member 5B gene DOID:1059 intellectual disability ISO RGD:1344841 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 12227151 KIF5B kinesin family member 5B gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21757253 12227151 KIF5B kinesin family member 5B gene DOID:630 genetic disease ISO RGD:1344841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227151 KIF5B kinesin family member 5B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621559 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:23776493|REF_RGD_ID:11059542 12227151 KIF5B kinesin family member 5B gene DOID:9008086 Developmental Disabilities ISO RGD:1344841 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12227151 KIF5B kinesin family member 5B gene DOID:9351 diabetes mellitus ISO RGD:1344841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23776493 12227207 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:68993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 12227207 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:0080325 tuberous sclerosis 2 ISO RGD:68993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12227207 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:68993 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12227207 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:11446 sciatic neuropathy ISO RGD:68943 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion PMID:22972512|REF_RGD_ID:15042903 12227207 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:12241 beta thalassemia ISO RGD:68993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31542421 12227207 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:12849 autistic disorder ISO RGD:68993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16754686 12227207 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:1825 childhood absence epilepsy ISO RGD:68993 D RGD:8554872 20221101 ClinVar ClinVar Annotator: match by term: CACNA1H-related disorder PMID:28492532 12227207 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:1826 epilepsy ISO RGD:68993 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12227207 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:1827 idiopathic generalized epilepsy ISO RGD:68993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, juvenile myoclonic, susceptibility to, 10 | ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:12891677|PMID:14729682|PMID:15048902|PMID:15852375|PMID:15888660|PMID:16199547|PMID:16529636|PMID:16754686|PMID:17576681|PMID:17696120|PMID:21099341|PMID:23757202|PMID:24277868|PMID:24972929|PMID:25640679|PMID:25741868|PMID:25773295|PMID:25907736|PMID:26467025|PMID:26587300|PMID:26706850|PMID:27066544|PMID:27148582|PMID:27331657|PMID:27729216|PMID:28166811|PMID:28488083|PMID:28492532|PMID:28842445|PMID:30860130|PMID:31070086|PMID:31130284|PMID:31139143|PMID:31651342|PMID:32227660|PMID:33083721|PMID:9536098 12227207 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:2234 focal epilepsy ISO RGD:68993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:25741868 12227207 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:3007 breast ductal carcinoma ISO RGD:68993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma PMID:26467025|PMID:27148582|PMID:28492532 12227207 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:446 primary hyperaldosteronism ISO RGD:68993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperaldosteronism | ClinVar Annotator: match by term: Primary aldosteronism PMID:25741868|PMID:25907736|PMID:28492532 12227207 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:574 peripheral nervous system disease ISO RGD:68993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30552955 12227207 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:630 genetic disease ISO RGD:68993 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12227207 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:9001945 Childhood Absence Epilepsy 6 ISO RGD:68993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 6 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 6 PMID:12891677|PMID:14729682|PMID:15048902|PMID:15852375|PMID:15888660|PMID:16199547|PMID:16529636|PMID:16754686|PMID:17576681|PMID:17696120|PMID:21099341|PMID:24277868|PMID:25741868|PMID:26467025|PMID:26539891|PMID:26587300|PMID:27331657|PMID:28488083|PMID:28492532|PMID:30860130|PMID:31130284|PMID:31651342|PMID:32227660|PMID:33083721|PMID:9536098 12227207 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:9001945 Childhood Absence Epilepsy 6 susceptibility ISO RGD:68993 D RGD:7240710 20230510 OMIM 12227207 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:9002211 Hyperalgesia ISO RGD:68993 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:19577366|PMID:30552955|PMID:34286406 12227207 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:9003950 Familial Hyperaldosteronism, Type IV ISO RGD:68993 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperaldosteronism, familial, type IV PMID:17696120|PMID:25741868|PMID:25907736|PMID:26467025|PMID:27331657|PMID:27729216|PMID:28492532 12227207 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:9003950 Familial Hyperaldosteronism, Type IV susceptibility ISO RGD:68993 D RGD:7240710 20230510 OMIM 12227207 CACNA1H calcium voltage-gated channel subunit alpha1 H gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:68993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30552955 12227250 SLC4A8 solute carrier family 4 member 8 gene DOID:11716 prediabetes syndrome ISO RGD:735164 D RGD:9068941 20200609 RGD PMID:24105628|REF_RGD_ID:9999379 12227250 SLC4A8 solute carrier family 4 member 8 gene DOID:630 genetic disease ISO RGD:1346907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227292 DENND5A DENN domain containing 5A gene DOID:0080441 developmental and epileptic encephalopathy 49 ISO RGD:1315561 D RGD:7240710 20190315 OMIM 12227292 DENND5A DENN domain containing 5A gene DOID:0080441 developmental and epileptic encephalopathy 49 ISO RGD:1315561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 49 PMID:25741868|PMID:27431290|PMID:27866705|PMID:28492532 12227292 DENND5A DENN domain containing 5A gene DOID:1826 epilepsy ISO RGD:1315561 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:27431290|PMID:27866705|PMID:28492532 12227292 DENND5A DENN domain containing 5A gene DOID:630 genetic disease ISO RGD:1315561 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27431290|PMID:27866705|PMID:28492532 12227320 MPHOSPH9 M-phase phosphoprotein 9 gene DOID:0111487 combined oxidative phosphorylation deficiency 7 ISO RGD:1313543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 12227320 MPHOSPH9 M-phase phosphoprotein 9 gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1313543 D RGD:9068941 20200609 RGD DNA:snp:intron:122222678G>T rs1790100 (human) PMID:19879194|REF_RGD_ID:2316985 12227320 MPHOSPH9 M-phase phosphoprotein 9 gene DOID:630 genetic disease ISO RGD:1313543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227378 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:0060581 Noonan syndrome 3 ISO RGD:1317750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:25741868|PMID:28492532 12227378 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:0080212 polycystic kidney disease 4 ISO RGD:1317750 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28492532|PMID:30348783|PMID:34008892 12227378 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1317750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 12227378 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:1317750 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 12227378 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:0080690 RASopathy ISO RGD:1317750 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: RASopathy PMID:17576681|PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25137548|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26519477|PMID:27466182|PMID:28074886|PMID:28166811|PMID:28301460|PMID:28492532|PMID:29907801|PMID:30348783|PMID:34008892|PMID:9536098 12227378 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:0080690 RASopathy ISO RGD:1317750 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:17576681|PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25137548|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28074886|PMID:28166811|PMID:28301460|PMID:28492532|PMID:29907801|PMID:30348783|PMID:34008892|PMID:9536098 12227378 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:0080690 RASopathy ISO RGD:1317750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:17576681|PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25137548|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:27763634|PMID:28074886|PMID:28301460|PMID:28492532|PMID:29907801|PMID:30348783|PMID:33673806|PMID:34008892|PMID:9536098 12227378 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:0080691 Noonan syndrome-like disorder with loose anagen hair ISO RGD:1317750 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22670144|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28492532|PMID:30348783|PMID:34008892 12227378 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 ISO RGD:1317750 D RGD:7240710 20180130 OMIM 12227378 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 ISO RGD:1317750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 1 PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22670144|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25137548|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28074886|PMID:28301460|PMID:28492532|PMID:29907801|PMID:30348783|PMID:33673806|PMID:34008892 12227378 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:0110447 dilated cardiomyopathy 1DD ISO RGD:1317750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532 12227378 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:1059 intellectual disability ISO RGD:1317750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12227378 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:3310 atopic dermatitis ISO RGD:1317750 D RGD:9068941 20230112 RGD associated with Noonan syndrome and related diseases; DNA:mutation:cds:c.4A>G (p.S2G)(human) PMID:20882035|REF_RGD_ID:11071178 12227378 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:3490 Noonan syndrome ISO RGD:1317750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28492532|PMID:30348783|PMID:33673806|PMID:34008892 12227378 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:421 hair disease ISO RGD:1317750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19684605 12227378 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:630 genetic disease ISO RGD:1317750 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25137548|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28492532|PMID:29907801|PMID:30348783|PMID:34008892 12227378 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1308146 D RGD:9068941 20230112 RGD mRNA:decreased expression:brain: PMID:34368865|REF_RGD_ID:155804268 12227378 SHOC2 SHOC2 leucine rich repeat scaffold protein gene DOID:9008386 Hydrops Fetalis ISO RGD:1317750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25137548|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30348783 12227395 ART3 ADP-ribosyltransferase 3 (inactive) gene DOID:630 genetic disease ISO RGD:1320437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227395 ART3 ADP-ribosyltransferase 3 (inactive) gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 12227395 ART3 ADP-ribosyltransferase 3 (inactive) gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1320437 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12227416 SERPINB6 serpin family B member 6 gene DOID:0050439 Usher syndrome ISO RGD:1348161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:24033266|PMID:28492532|PMID:30311386 12227416 SERPINB6 serpin family B member 6 gene DOID:0110536 autosomal recessive nonsyndromic deafness 91 ISO RGD:1348161 D RGD:7240710 20180130 OMIM 12227416 SERPINB6 serpin family B member 6 gene DOID:0110536 autosomal recessive nonsyndromic deafness 91 ISO RGD:1348161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 91 PMID:17576681|PMID:20451170|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 12227416 SERPINB6 serpin family B member 6 gene DOID:630 genetic disease ISO RGD:1348161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532|PMID:30311386 12227416 SERPINB6 serpin family B member 6 gene DOID:9004538 Hearing Loss ISO RGD:1348161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 12227416 SERPINB6 serpin family B member 6 gene DOID:9004657 Weight Gain ISO RGD:1552475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12227427 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1317498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 12227427 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1317498 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 12227427 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:0080820 occupational asthma ISO RGD:1317498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25918132 12227427 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:0081203 autosomal recessive intellectual developmental disorder 38 ISO RGD:1317498 D RGD:7240710 20180130 OMIM 12227427 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:0081203 autosomal recessive intellectual developmental disorder 38 ISO RGD:1317498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 38 PMID:23065719|PMID:23243086|PMID:24033266|PMID:25741868|PMID:28492532 12227427 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1317498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:25741868|PMID:30755392 12227427 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:1059 intellectual disability ISO RGD:1317498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12227427 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:11983 Prader-Willi syndrome ISO RGD:1317498 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:25741868|PMID:28492532|PMID:28631899 12227427 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:12849 autistic disorder ISO RGD:1317498 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 12227427 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:1932 Angelman syndrome ISO RGD:1317498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:26633545 12227427 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:5419 schizophrenia ISO RGD:1317498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12227427 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:543 dystonia ISO RGD:1317498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868|PMID:30755392 12227427 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1317498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18442486|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30755392 12227427 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:8577 ulcerative colitis ISO RGD:1317498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438405 12227427 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 ISO RGD:1317498 D RGD:7240710 20180130 OMIM 12227427 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 ISO RGD:1317498 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 1 PMID:17236130|PMID:17952075|PMID:18172690|PMID:18252221|PMID:18252222|PMID:22234890|PMID:25741868|PMID:28492532 12227427 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9000884 Rhabdomyolysis ISO RGD:1317498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:25741868|PMID:30755392 12227427 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12227427 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:1317498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:25741868 12227427 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1317498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:30755392 12227427 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9008173 Paraparesis ISO RGD:1317498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paraparesis PMID:25741868 12227427 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9008675 Dyskinesias ISO RGD:1317498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Involuntary movements PMID:25741868|PMID:30755392 12227427 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1317498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:16397024|PMID:23220880 12227427 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:1317498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:26068938|PMID:28492532 12227538 NFATC3 nuclear factor of activated T cells 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1318613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12227538 NFATC3 nuclear factor of activated T cells 3 gene DOID:10126 keratoconus ISO RGD:1318613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 12227538 NFATC3 nuclear factor of activated T cells 3 gene DOID:630 genetic disease ISO RGD:1318613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227538 NFATC3 nuclear factor of activated T cells 3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1615176 D RGD:9068941 20200609 RGD PMID:9568714|REF_RGD_ID:1579956 12227538 NFATC3 nuclear factor of activated T cells 3 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1615176 D RGD:9068941 20200609 RGD PMID:9568714|REF_RGD_ID:1579956 12227556 LMO4 LIM domain only 4 gene DOID:0060668 anencephaly ISO RGD:1313838 D RGD:9068941 20220825 MouseDO OMIM:206500 12227556 LMO4 LIM domain only 4 gene DOID:630 genetic disease ISO RGD:1313837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227568 LYG2 lysozyme g2 gene DOID:630 genetic disease ISO RGD:1603530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227584 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:733138 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12227584 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:0060180 colitis ISO RGD:70547 D RGD:9068941 20200609 RGD PMID:21330446|REF_RGD_ID:5490987 12227584 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:0060180 colitis ISO RGD:70547 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:intestine, myenteric nerve plexus PMID:17586086|REF_RGD_ID:5131259 12227584 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:733138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 12227584 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:10763 hypertension ISO RGD:733138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10742107 12227584 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:1596 depressive disorder ISO RGD:70547 D RGD:9068941 20200609 RGD PMID:20860876|REF_RGD_ID:5147490 12227584 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:2030 anxiety disorder ISO RGD:733138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10742108 12227584 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:2841 asthma ISO RGD:733138 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18408560|REF_RGD_ID:5130938 12227584 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:326 ischemia ISO RGD:70547 D RGD:9068941 20200609 RGD PMID:19429103|REF_RGD_ID:5130953 12227584 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:3877 functional colonic disease ISO RGD:70547 D RGD:9068941 20200609 RGD PMID:20096320|REF_RGD_ID:5130948 12227584 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:4483 rhinitis ISO RGD:733138 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nasal cavity epithelium PMID:17597629|REF_RGD_ID:5130940 12227584 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12227584 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:552 pneumonia ISO RGD:733139 D RGD:9068941 20200609 RGD PMID:16855006|REF_RGD_ID:5130933 12227584 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:630 genetic disease ISO RGD:733138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227584 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:767 muscular atrophy ISO RGD:70547 D RGD:9068941 20200609 RGD PMID:21235761|REF_RGD_ID:5130936 12227584 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:850 lung disease ISO RGD:733138 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16855006 12227584 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:9001109 Anorexia ISO RGD:70547 D RGD:9068941 20200609 RGD PMID:17050037|REF_RGD_ID:5131264 12227584 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:9001109 Anorexia ISO RGD:733138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17627984 12227584 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:733139 D RGD:9068941 20200609 RGD PMID:21774994|REF_RGD_ID:5147472 12227584 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:70547 D RGD:9068941 20200609 RGD mRNA:decreased expression:left ventricle (rat) PMID:11087261|REF_RGD_ID:1642796 12227584 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:9005372 Inflammation ISO RGD:733138 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16855006 12227584 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:733138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17437087 12227584 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:9006024 Hypotension ISO RGD:70547 D RGD:9068941 20200609 RGD PMID:11036160|REF_RGD_ID:1581302 12227584 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:9007877 Fetal Hypoxia ISO RGD:70547 D RGD:9068941 20200609 RGD protein:decreased expression:paraventricular nucleus of hypothalamus (rat) PMID:19409200|REF_RGD_ID:5491006 12227584 CRHR2 corticotropin releasing hormone receptor 2 gene DOID:9778 irritable bowel syndrome ISO RGD:70547 D RGD:9068941 20200609 RGD associated with Anxiety Disorders; protein:decreased expression:distal colon (rat) PMID:20096320|REF_RGD_ID:5130948 12227618 LTA4H leukotriene A4 hydrolase gene DOID:0080600 COVID-19 ISO RGD:1322731 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12227618 LTA4H leukotriene A4 hydrolase gene DOID:10754 otitis media ISO RGD:9009488 D RGD:9068941 20200609 RGD PMID:20433028|REF_RGD_ID:11553910 12227618 LTA4H leukotriene A4 hydrolase gene DOID:1749 squamous cell carcinoma ISO RGD:1311333 D RGD:9068941 20200609 RGD protein:increased expression:tongue, carcinoma, stroma (rat) PMID:17985342|REF_RGD_ID:2316582 12227618 LTA4H leukotriene A4 hydrolase gene DOID:1936 atherosclerosis ISO RGD:1322731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16698924 12227618 LTA4H leukotriene A4 hydrolase gene DOID:2841 asthma ISO RGD:1311333 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, cerebral cortex (rat) PMID:15715933|REF_RGD_ID:2316607 12227618 LTA4H leukotriene A4 hydrolase gene DOID:299 adenocarcinoma ISO RGD:1311333 D RGD:9068941 20200609 RGD protein:increased expression:esophagus (rat) PMID:12865451|REF_RGD_ID:2316606 12227618 LTA4H leukotriene A4 hydrolase gene DOID:630 genetic disease ISO RGD:1322731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227618 LTA4H leukotriene A4 hydrolase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12227644 ITGBL1 integrin subunit beta like 1 gene DOID:0050976 spinocerebellar ataxia type 27 ISO RGD:1348863 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 PMID:25741868 12227644 ITGBL1 integrin subunit beta like 1 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1348863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 12227644 ITGBL1 integrin subunit beta like 1 gene DOID:14701 propionic acidemia ISO RGD:1348863 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 12227644 ITGBL1 integrin subunit beta like 1 gene DOID:630 genetic disease ISO RGD:1348863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227644 ITGBL1 integrin subunit beta like 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1348863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12227664 ILKAP ILK associated serine/threonine phosphatase gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:731849 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12227664 ILKAP ILK associated serine/threonine phosphatase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:731849 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12227664 ILKAP ILK associated serine/threonine phosphatase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:731849 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12227664 ILKAP ILK associated serine/threonine phosphatase gene DOID:1059 intellectual disability ISO RGD:731849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12227664 ILKAP ILK associated serine/threonine phosphatase gene DOID:630 genetic disease ISO RGD:731849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227664 ILKAP ILK associated serine/threonine phosphatase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:731849 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12227691 ITGA8 integrin subunit alpha 8 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:736147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12227691 ITGA8 integrin subunit alpha 8 gene DOID:14766 renal agenesis ISO RGD:736147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12227691 ITGA8 integrin subunit alpha 8 gene DOID:2394 ovarian cancer ISO RGD:736147 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17303177|REF_RGD_ID:2302241 12227691 ITGA8 integrin subunit alpha 8 gene DOID:4783 mesangial proliferative glomerulonephritis ISO RGD:621634 D RGD:9068941 20200609 RGD mRNA:increased expression:cortex of kidney PMID:25482639|REF_RGD_ID:12910487 12227691 ITGA8 integrin subunit alpha 8 gene DOID:5419 schizophrenia treatment ISO RGD:736147 D RGD:9068941 20200609 RGD DNA:SNP:cds: rs2298033(human) PMID:23153507|REF_RGD_ID:13601982 12227691 ITGA8 integrin subunit alpha 8 gene DOID:630 genetic disease ISO RGD:736147 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12227691 ITGA8 integrin subunit alpha 8 gene DOID:783 end stage renal disease ISO RGD:736147 D RGD:9068941 20200609 RGD associated with Polycystic Kidney, Autosomal Dominant;DNA:polymorphism: :-414T>C(human) PMID:18277079|REF_RGD_ID:7257723 12227691 ITGA8 integrin subunit alpha 8 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736147 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:18277079|REF_RGD_ID:7257723 12227691 ITGA8 integrin subunit alpha 8 gene DOID:9000217 Stomach Neoplasms ISO RGD:736147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17786296 12227691 ITGA8 integrin subunit alpha 8 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303177 12227691 ITGA8 integrin subunit alpha 8 gene DOID:9003763 Renal Hypodysplasia/Aplasia 1 ISO RGD:736147 D RGD:7240710 20180711 OMIM 12227691 ITGA8 integrin subunit alpha 8 gene DOID:9003763 Renal Hypodysplasia/Aplasia 1 ISO RGD:736147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 1 PMID:24439109|PMID:25741868|PMID:28492532|PMID:33532864 12227727 APBA2 amyloid beta precursor protein binding family A member 2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:733396 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 12227727 APBA2 amyloid beta precursor protein binding family A member 2 gene DOID:1059 intellectual disability ISO RGD:733396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12227727 APBA2 amyloid beta precursor protein binding family A member 2 gene DOID:12849 autistic disorder ISO RGD:733396 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 12227727 APBA2 amyloid beta precursor protein binding family A member 2 gene DOID:1932 Angelman syndrome ISO RGD:733396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome 12227727 APBA2 amyloid beta precursor protein binding family A member 2 gene DOID:37 skin disease ISO RGD:733396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28720099 12227727 APBA2 amyloid beta precursor protein binding family A member 2 gene DOID:5419 schizophrenia ISO RGD:733396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12227727 APBA2 amyloid beta precursor protein binding family A member 2 gene DOID:630 genetic disease ISO RGD:733396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227749 COTL1 coactosin like F-actin binding protein 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1313560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12227749 COTL1 coactosin like F-actin binding protein 1 gene DOID:5419 schizophrenia ISO RGD:1313560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12227749 COTL1 coactosin like F-actin binding protein 1 gene DOID:630 genetic disease ISO RGD:1313560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227749 COTL1 coactosin like F-actin binding protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12227749 COTL1 coactosin like F-actin binding protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1313560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 12227756 COBL cordon-bleu WH2 repeat protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12227756 COBL cordon-bleu WH2 repeat protein gene DOID:630 genetic disease ISO RGD:1323755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227777 GMPPA GDP-mannose pyrophosphorylase A gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1607034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12227777 GMPPA GDP-mannose pyrophosphorylase A gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1607034 D RGD:7240710 20180130 OMIM 12227777 GMPPA GDP-mannose pyrophosphorylase A gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1607034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:24035193|PMID:25741868|PMID:28492532|PMID:28574218|PMID:29593478 12227777 GMPPA GDP-mannose pyrophosphorylase A gene DOID:1148 polydactyly ISO RGD:1607034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 12227777 GMPPA GDP-mannose pyrophosphorylase A gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1607034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12227777 GMPPA GDP-mannose pyrophosphorylase A gene DOID:630 genetic disease ISO RGD:1607034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12227777 GMPPA GDP-mannose pyrophosphorylase A gene DOID:8534 gastroesophageal reflux disease ISO RGD:1607034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux PMID:24035193 12227777 GMPPA GDP-mannose pyrophosphorylase A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12227777 GMPPA GDP-mannose pyrophosphorylase A gene DOID:9008086 Developmental Disabilities ISO RGD:1607034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24035193 12227824 IL3RA interleukin 3 receptor subunit alpha gene DOID:12849 autistic disorder ISO RGD:1348134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12227850 SC5D sterol-C5-desaturase gene DOID:0060017 CD3epsilon deficiency ISO RGD:1351356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12227850 SC5D sterol-C5-desaturase gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1351356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12227850 SC5D sterol-C5-desaturase gene DOID:0080690 RASopathy ISO RGD:1351356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12227850 SC5D sterol-C5-desaturase gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1351356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12227850 SC5D sterol-C5-desaturase gene DOID:0111971 immunodeficiency 18 ISO RGD:1351356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12227850 SC5D sterol-C5-desaturase gene DOID:0111972 immunodeficiency 19 ISO RGD:1351356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12227850 SC5D sterol-C5-desaturase gene DOID:0111973 immunodeficiency 17 ISO RGD:1351356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12227850 SC5D sterol-C5-desaturase gene DOID:1059 intellectual disability ISO RGD:1351356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189593 12227850 SC5D sterol-C5-desaturase gene DOID:409 liver disease ISO RGD:1351356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189593 12227850 SC5D sterol-C5-desaturase gene DOID:5419 schizophrenia ISO RGD:1351356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12227850 SC5D sterol-C5-desaturase gene DOID:630 genetic disease ISO RGD:1351356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12227850 SC5D sterol-C5-desaturase gene DOID:9001858 Lathosterolosis ISO RGD:1351356 D RGD:7240710 20190315 OMIM 12227850 SC5D sterol-C5-desaturase gene DOID:9001858 Lathosterolosis ISO RGD:1351356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lathosterolosis PMID:12189593|PMID:12812989|PMID:24142275|PMID:25741868|PMID:28492532|PMID:30097991 12227850 SC5D sterol-C5-desaturase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12227850 SC5D sterol-C5-desaturase gene DOID:9007661 Dwarfism ISO RGD:1351356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12227863 RILPL2 Rab interacting lysosomal protein like 2 gene DOID:630 genetic disease ISO RGD:1606943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227884 FSIP2 fibrous sheath interacting protein 2 gene DOID:0111911 spermatogenic failure 34 ISO RGD:1602400 D RGD:7240710 20190315 OMIM 12227884 FSIP2 fibrous sheath interacting protein 2 gene DOID:0111911 spermatogenic failure 34 ISO RGD:1602400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 34 PMID:25741868|PMID:30137358 12227884 FSIP2 fibrous sheath interacting protein 2 gene DOID:2843 long QT syndrome ISO RGD:1602400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12227884 FSIP2 fibrous sheath interacting protein 2 gene DOID:630 genetic disease ISO RGD:1602400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227884 FSIP2 fibrous sheath interacting protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12227914 CLEC7A C-type lectin domain containing 7A gene DOID:13564 aspergillosis ISO RGD:1350458 D RGD:7240710 20230517 OMIM 12227914 CLEC7A C-type lectin domain containing 7A gene DOID:13564 aspergillosis ISO RGD:1350458 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aspergillosis, susceptibility to PMID:19864674|PMID:20807886|PMID:24033266|PMID:25741868 12227914 CLEC7A C-type lectin domain containing 7A gene DOID:630 genetic disease ISO RGD:1350458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227914 CLEC7A C-type lectin domain containing 7A gene DOID:9004055 Fungal Keratitis ISO RGD:1558559 D RGD:9068941 20210528 RGD mRNA:increased expression:cornea PMID:26963514|REF_RGD_ID:11526921 12227914 CLEC7A C-type lectin domain containing 7A gene DOID:9004055 Fungal Keratitis treatment ISO RGD:1558559 D RGD:9068941 20210528 RGD PMID:26963514|REF_RGD_ID:11526921 12227914 CLEC7A C-type lectin domain containing 7A gene DOID:9009037 Candidiasis, Familial, 4 ISO RGD:1350458 D RGD:7240710 20230517 OMIM 12227914 CLEC7A C-type lectin domain containing 7A gene DOID:9009037 Candidiasis, Familial, 4 ISO RGD:1350458 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial chronic mucocutaneous candidiasis PMID:19864674|PMID:20807886|PMID:24033266|PMID:25741868|PMID:28492532 12227925 CD247 CD247 molecule gene DOID:0080600 COVID-19 ISO RGD:736538 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12227925 CD247 CD247 molecule gene DOID:0111942 immunodeficiency 25 ISO RGD:736538 D RGD:7240710 20180130 OMIM 12227925 CD247 CD247 molecule gene DOID:0111942 immunodeficiency 25 ISO RGD:736538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:16672702|PMID:17170122|PMID:17576681|PMID:25741868|PMID:26542031|PMID:28492532|PMID:9536098 12227925 CD247 CD247 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:736538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12227925 CD247 CD247 molecule gene DOID:418 systemic scleroderma ISO RGD:736538 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20383147 12227925 CD247 CD247 molecule gene DOID:630 genetic disease ISO RGD:736538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12227925 CD247 CD247 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12227934 LOC612524 putative protein SSX6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12227934 LOC612524 putative protein SSX6 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1354257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 12227934 LOC612524 putative protein SSX6 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1354257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12227934 LOC612524 putative protein SSX6 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1354257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12227934 LOC612524 putative protein SSX6 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1354257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12227934 LOC612524 putative protein SSX6 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1354257 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12227934 LOC612524 putative protein SSX6 gene DOID:12849 autistic disorder ISO RGD:1354257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12227934 LOC612524 putative protein SSX6 gene DOID:3307 teratoma ISO RGD:1354257 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 12227934 LOC612524 putative protein SSX6 gene DOID:5485 synovial sarcoma ISO RGD:1354257 D RGD:9068941 20230506 CTD CTD Direct Evidence: marker/mechanism PMID:27572315|PMID:9428816 12227934 LOC612524 putative protein SSX6 gene DOID:630 genetic disease ISO RGD:1354257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227934 LOC612524 putative protein SSX6 gene DOID:684 hepatocellular carcinoma ISO RGD:1354257 D RGD:9068941 20201203 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12227934 LOC612524 putative protein SSX6 gene DOID:9003990 X-Linked Spermatogenic Failure 5 ISO RGD:1354257 D RGD:7240710 20230505 OMIM 12227934 LOC612524 putative protein SSX6 gene DOID:9003990 X-Linked Spermatogenic Failure 5 ISO RGD:1354257 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 5 PMID:36796361 12227950 CEACAM24 carcinoembryonic antigen-related cell adhesion molecule 24 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:737213 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12227950 CEACAM24 carcinoembryonic antigen-related cell adhesion molecule 24 gene DOID:1342 congenital hypoplastic anemia ISO RGD:737213 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12227950 CEACAM24 carcinoembryonic antigen-related cell adhesion molecule 24 gene DOID:2340 craniosynostosis ISO RGD:737213 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12227950 CEACAM24 carcinoembryonic antigen-related cell adhesion molecule 24 gene DOID:5419 schizophrenia ISO RGD:737213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12227950 CEACAM24 carcinoembryonic antigen-related cell adhesion molecule 24 gene DOID:630 genetic disease ISO RGD:737213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227950 CEACAM24 carcinoembryonic antigen-related cell adhesion molecule 24 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:737213 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12227950 CEACAM24 carcinoembryonic antigen-related cell adhesion molecule 24 gene DOID:9269 maple syrup urine disease ISO RGD:737213 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12227962 KHNYN KH and NYN domain containing gene DOID:0060439 lysinuric protein intolerance ISO RGD:1316201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12227962 KHNYN KH and NYN domain containing gene DOID:630 genetic disease ISO RGD:1316201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227962 KHNYN KH and NYN domain containing gene DOID:9000265 Specific Granule Deficiency ISO RGD:1316201 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12227962 KHNYN KH and NYN domain containing gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316201 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12227974 ZNF556 zinc finger protein 556 gene DOID:630 genetic disease ISO RGD:1353094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227974 ZNF556 zinc finger protein 556 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12227985 AQP12 aquaporin 12 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1352752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12227985 AQP12 aquaporin 12 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1352752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12227985 AQP12 aquaporin 12 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1352752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 12227985 AQP12 aquaporin 12 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1352752 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12227985 AQP12 aquaporin 12 gene DOID:1059 intellectual disability ISO RGD:1352752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12227985 AQP12 aquaporin 12 gene DOID:630 genetic disease ISO RGD:1352752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227985 AQP12 aquaporin 12 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1352752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12227994 HDGF heparin binding growth factor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:735331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12227994 HDGF heparin binding growth factor gene DOID:0111940 immunodeficiency 42 ISO RGD:735331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12227994 HDGF heparin binding growth factor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:735331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12227994 HDGF heparin binding growth factor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:735331 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12227994 HDGF heparin binding growth factor gene DOID:1540 parathyroid carcinoma ISO RGD:735331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12227994 HDGF heparin binding growth factor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12227994 HDGF heparin binding growth factor gene DOID:5812 MHC class II deficiency ISO RGD:735331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12227994 HDGF heparin binding growth factor gene DOID:630 genetic disease ISO RGD:735331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12227994 HDGF heparin binding growth factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12228003 MIR125B-1 microRNA mir-125b-1 gene DOID:5419 schizophrenia ISO RGD:1352829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12228003 MIR125B-1 microRNA mir-125b-1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1352829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12228003 MIR125B-1 microRNA mir-125b-1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352829 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12228003 MIR125B-1 microRNA mir-125b-1 gene DOID:9007661 Dwarfism ISO RGD:1352829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12228003 MIR125B-1 microRNA mir-125b-1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352829 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478399 12228006 MIR497 microRNA mir-497 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1603766 D RGD:9068941 20210514 RGD PMID:31115562|REF_RGD_ID:126925181 12228006 MIR497 microRNA mir-497 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1603766 D RGD:9068941 20210514 RGD miRNA:decreased expression:lung PMID:31115562|REF_RGD_ID:126925181 12228006 MIR497 microRNA mir-497 gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:1603766 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 12228006 MIR497 microRNA mir-497 gene DOID:657 adenoma ISO RGD:1603766 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 12228006 MIR497 microRNA mir-497 gene DOID:9002170 Experimental Neoplasms ISO RGD:1603766 D RGD:9068941 20220908 CTD CTD Direct Evidence: therapeutic PMID:35066776 12228006 MIR497 microRNA mir-497 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1603766 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35066776 12228006 MIR497 microRNA mir-497 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1603766 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35066776 12228006 MIR497 microRNA mir-497 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603766 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12228006 MIR497 microRNA mir-497 gene DOID:9743 diabetic neuropathy ISO RGD:1603766 D RGD:9068941 20230406 CTD CTD Direct Evidence: therapeutic PMID:35478295 12228019 CALHM4 calcium homeostasis modulator family member 4 gene DOID:0060163 body dysmorphic disorder ISO RGD:1314099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 12228019 CALHM4 calcium homeostasis modulator family member 4 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1314099 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12228019 CALHM4 calcium homeostasis modulator family member 4 gene DOID:1059 intellectual disability ISO RGD:1314099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 12228019 CALHM4 calcium homeostasis modulator family member 4 gene DOID:10907 microcephaly ISO RGD:1314099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 12228019 CALHM4 calcium homeostasis modulator family member 4 gene DOID:1826 epilepsy ISO RGD:1314099 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12228019 CALHM4 calcium homeostasis modulator family member 4 gene DOID:630 genetic disease ISO RGD:1314099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228019 CALHM4 calcium homeostasis modulator family member 4 gene DOID:9000495 Tremor ISO RGD:1314099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12228090 ADORA2A adenosine A2a receptor gene DOID:0050700 cardiomyopathy ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20363887 12228090 ADORA2A adenosine A2a receptor gene DOID:0060001 withdrawal disorder ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14756803|PMID:16226742|PMID:16470403 12228090 ADORA2A adenosine A2a receptor gene DOID:0060500 drug allergy ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19019667 12228090 ADORA2A adenosine A2a receptor gene DOID:10763 hypertension no_association ISO RGD:730999 D RGD:9068941 20200609 RGD PMID:15257174|REF_RGD_ID:1625367 12228090 ADORA2A adenosine A2a receptor gene DOID:11396 pulmonary edema ISO RGD:10092 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:19909990|REF_RGD_ID:4890361 12228090 ADORA2A adenosine A2a receptor gene DOID:11830 myopia ISO RGD:10092 D RGD:9068941 20220825 MouseDO OMIM:160700 | OMIM:255500 | OMIM:300613 | OMIM:310460 | OMIM:603221 | OMIM:608367 | OMIM:608474 | OMIM:608908 | OMIM:609256 | OMIM:609257 | OMIM:609258 | OMIM:609259 | OMIM:609994 | OMIM:609995 | OMIM:610320 | OMIM:612554 | OMIM:612717 | OMIM:613959 | OMIM:613969 | OMIM:614166 | OMIM:614167 | OMIM:615420 | OMIM:615431 | OMIM:615946 12228090 ADORA2A adenosine A2a receptor gene DOID:14557 primary pulmonary hypertension ISO RGD:10092 D RGD:9068941 20220825 MouseDO OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 12228090 ADORA2A adenosine A2a receptor gene DOID:1596 depressive disorder ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26860412 12228090 ADORA2A adenosine A2a receptor gene DOID:1826 epilepsy ISO RGD:730999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12228090 ADORA2A adenosine A2a receptor gene DOID:2030 anxiety disorder ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12825092|PMID:16118787|PMID:18305461|PMID:20532872 12228090 ADORA2A adenosine A2a receptor gene DOID:2799 bronchiolitis obliterans ISO RGD:10092 D RGD:9068941 20200609 RGD PMID:19766783|REF_RGD_ID:4890362 12228090 ADORA2A adenosine A2a receptor gene DOID:2841 asthma ISO RGD:10092 D RGD:9068941 20200609 RGD PMID:16339780|PMID:17293374|REF_RGD_ID:4890380|REF_RGD_ID:4890385 12228090 ADORA2A adenosine A2a receptor gene DOID:2841 asthma ISO RGD:10092 D RGD:9068941 20200609 RGD mRNA:decreased expression:aorta PMID:18310516|REF_RGD_ID:4890366 12228090 ADORA2A adenosine A2a receptor gene DOID:2841 asthma ISO RGD:730999 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:19019667|REF_RGD_ID:4890386 12228090 ADORA2A adenosine A2a receptor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:10092 D RGD:9068941 20200609 RGD PMID:16339780|REF_RGD_ID:4890385 12228090 ADORA2A adenosine A2a receptor gene DOID:480 movement disease ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26526685 12228090 ADORA2A adenosine A2a receptor gene DOID:5419 schizophrenia ISO RGD:730999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12228090 ADORA2A adenosine A2a receptor gene DOID:552 pneumonia ISO RGD:10092 D RGD:9068941 20200609 RGD PMID:17601796|REF_RGD_ID:4890376 12228090 ADORA2A adenosine A2a receptor gene DOID:552 pneumonia ISO RGD:10092 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell PMID:20798237|REF_RGD_ID:4890358 12228090 ADORA2A adenosine A2a receptor gene DOID:552 pneumonia ISO RGD:10092 D RGD:9068941 20200609 RGD associated with Lung Injury PMID:18703794|REF_RGD_ID:4890364 12228090 ADORA2A adenosine A2a receptor gene DOID:594 panic disorder ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12825092 12228090 ADORA2A adenosine A2a receptor gene DOID:630 genetic disease ISO RGD:730999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228090 ADORA2A adenosine A2a receptor gene DOID:670 amphetamine abuse ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20799992 12228090 ADORA2A adenosine A2a receptor gene DOID:7148 rheumatoid arthritis ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 12228090 ADORA2A adenosine A2a receptor gene DOID:850 lung disease ISO RGD:10092 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:17617618|REF_RGD_ID:4890370 12228090 ADORA2A adenosine A2a receptor gene DOID:850 lung disease ISO RGD:2049 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury PMID:19487932|REF_RGD_ID:4890363 12228090 ADORA2A adenosine A2a receptor gene DOID:850 lung disease ISO RGD:2049 D RGD:9068941 20200609 RGD associated with Shock PMID:16484904|REF_RGD_ID:4890383 12228090 ADORA2A adenosine A2a receptor gene DOID:8646 substance-induced psychosis ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20799992 12228090 ADORA2A adenosine A2a receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2049 D RGD:9068941 20200609 RGD PMID:17559837|REF_RGD_ID:4890378 12228090 ADORA2A adenosine A2a receptor gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19019667 12228090 ADORA2A adenosine A2a receptor gene DOID:9000495 Tremor ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16780890 12228090 ADORA2A adenosine A2a receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16783407 12228090 ADORA2A adenosine A2a receptor gene DOID:9001981 Weight Loss ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26526685 12228090 ADORA2A adenosine A2a receptor gene DOID:9002362 Hyperkinesis ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15187444 12228090 ADORA2A adenosine A2a receptor gene DOID:9004009 Reperfusion Injury ISO RGD:2049 D RGD:9068941 20200609 RGD PMID:17937935|REF_RGD_ID:4890367 12228090 ADORA2A adenosine A2a receptor gene DOID:9004009 Reperfusion Injury ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27757725 12228090 ADORA2A adenosine A2a receptor gene DOID:9004484 Sepsis ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27757725 12228090 ADORA2A adenosine A2a receptor gene DOID:9004576 Sleep Initiation and Maintenance Disorders ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20532872 12228090 ADORA2A adenosine A2a receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2049 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:16256246|REF_RGD_ID:2313805 12228090 ADORA2A adenosine A2a receptor gene DOID:9006024 Hypotension ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15641640|PMID:1592228|PMID:18313046 12228090 ADORA2A adenosine A2a receptor gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15641640 12228090 ADORA2A adenosine A2a receptor gene DOID:9007039 Ventricular Dysfunction ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15641640 12228096 KATNA1 katanin catalytic subunit A1 gene DOID:630 genetic disease ISO RGD:1353857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228111 SMOC2 SPARC related modular calcium binding 2 gene DOID:5419 schizophrenia ISO RGD:1315436 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12228111 SMOC2 SPARC related modular calcium binding 2 gene DOID:630 genetic disease ISO RGD:1315436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12228111 SMOC2 SPARC related modular calcium binding 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315436 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12228111 SMOC2 SPARC related modular calcium binding 2 gene DOID:9003504 Dentin Dysplasia, Type 1 ISO RGD:1315436 D RGD:7240710 20180130 OMIM 12228111 SMOC2 SPARC related modular calcium binding 2 gene DOID:9003504 Dentin Dysplasia, Type 1 ISO RGD:1315436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dentin dysplasia type I | ClinVar Annotator: match by term: Dentin dysplasia, type I, with extreme microdontia and misshapen teeth PMID:22152679|PMID:23317772|PMID:25741868 12228145 USP10 ubiquitin specific peptidase 10 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1352341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12228145 USP10 ubiquitin specific peptidase 10 gene DOID:5419 schizophrenia ISO RGD:1352341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12228145 USP10 ubiquitin specific peptidase 10 gene DOID:630 genetic disease ISO RGD:1352341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228162 ZC2HC1B zinc finger C2HC-type containing 1B gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1349089 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532 12228162 ZC2HC1B zinc finger C2HC-type containing 1B gene DOID:630 genetic disease ISO RGD:1349089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228180 ETV6 ETS variant transcription factor 6 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1345405 D RGD:9068941 20200609 RGD PMID:12203785|REF_RGD_ID:1581019 12228180 ETV6 ETS variant transcription factor 6 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1345405 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:9171997|REF_RGD_ID:10450601 12228180 ETV6 ETS variant transcription factor 6 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1345405 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:18476590|REF_RGD_ID:10450605 12228180 ETV6 ETS variant transcription factor 6 gene DOID:0070004 myeloid neoplasm ISO RGD:1345405 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:9044825|REF_RGD_ID:10450608 12228180 ETV6 ETS variant transcription factor 6 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1345405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12228180 ETV6 ETS variant transcription factor 6 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1345405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12228180 ETV6 ETS variant transcription factor 6 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1345405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15217836|PMID:24413735|PMID:25807284 12228180 ETV6 ETS variant transcription factor 6 gene DOID:1037 lymphoid leukemia ISO RGD:1345405 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:9539781|REF_RGD_ID:10450724 12228180 ETV6 ETS variant transcription factor 6 gene DOID:1240 leukemia ISO RGD:1345405 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:9326218|REF_RGD_ID:10450609 12228180 ETV6 ETS variant transcription factor 6 gene DOID:1588 thrombocytopenia ISO RGD:1345405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25581430|PMID:25741868|PMID:26522332|PMID:27365488|PMID:28492532|PMID:31064749|PMID:32581362 12228180 ETV6 ETS variant transcription factor 6 gene DOID:2213 hemorrhagic disease ISO RGD:1345405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 12228180 ETV6 ETS variant transcription factor 6 gene DOID:2226 myeloproliferative neoplasm ISO RGD:1345405 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:12181402|REF_RGD_ID:10450606 12228180 ETV6 ETS variant transcription factor 6 gene DOID:303 substance-related disorder ISO RGD:1345405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12228180 ETV6 ETS variant transcription factor 6 gene DOID:630 genetic disease ISO RGD:1345405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12228180 ETV6 ETS variant transcription factor 6 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12228180 ETV6 ETS variant transcription factor 6 gene DOID:9001067 Familial Macrocytosis ISO RGD:1345405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25807284 12228180 ETV6 ETS variant transcription factor 6 gene DOID:9005805 Thrombocytopenia 5 ISO RGD:1345405 D RGD:7240710 20180130 OMIM 12228180 ETV6 ETS variant transcription factor 6 gene DOID:9005805 Thrombocytopenia 5 ISO RGD:1345405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 5 PMID:15806161|PMID:17988997|PMID:18305557|PMID:21680795|PMID:21714648|PMID:24904105|PMID:24997145|PMID:25581430|PMID:25741868|PMID:25807284|PMID:26102509|PMID:26522332|PMID:27365488|PMID:27895058|PMID:28492532|PMID:29365323|PMID:31064749|PMID:31248877|PMID:31704777|PMID:32693409|PMID:33179473|PMID:33226740|PMID:33768492|PMID:34355501|PMID:9694803 12228180 ETV6 ETS variant transcription factor 6 gene DOID:9006532 Hematologic Neoplasms ISO RGD:1345405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hematologic neoplasm PMID:15806161|PMID:18305557|PMID:21680795|PMID:21714648|PMID:24904105|PMID:24997145|PMID:25581430|PMID:25741868|PMID:25807284|PMID:26102509|PMID:26522332|PMID:27895058|PMID:28492532|PMID:31248877|PMID:31704777|PMID:32693409|PMID:33226740|PMID:33768492|PMID:9694803 12228180 ETV6 ETS variant transcription factor 6 gene DOID:9119 acute myeloid leukemia ISO RGD:1345405 D RGD:7240710 20180130 OMIM 12228180 ETV6 ETS variant transcription factor 6 gene DOID:9119 acute myeloid leukemia ISO RGD:1345405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:15806161|PMID:25581430|PMID:25741868|PMID:25807284|PMID:28492532|PMID:31248877|PMID:31704777|PMID:33226740|PMID:33768492 12228180 ETV6 ETS variant transcription factor 6 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1345405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute lymphoid leukemia 12228197 PRXL2B peroxiredoxin like 2B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12228197 PRXL2B peroxiredoxin like 2B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12228197 PRXL2B peroxiredoxin like 2B gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1603910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12228197 PRXL2B peroxiredoxin like 2B gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1603910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12228197 PRXL2B peroxiredoxin like 2B gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12228197 PRXL2B peroxiredoxin like 2B gene DOID:0111934 immunodeficiency 38 ISO RGD:1603910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12228197 PRXL2B peroxiredoxin like 2B gene DOID:0111935 immunodeficiency 16 ISO RGD:1603910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12228197 PRXL2B peroxiredoxin like 2B gene DOID:10316 pneumoconiosis ISO RGD:1603910 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 12228197 PRXL2B peroxiredoxin like 2B gene DOID:630 genetic disease ISO RGD:1603910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228197 PRXL2B peroxiredoxin like 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12228197 PRXL2B peroxiredoxin like 2B gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1603910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12228197 PRXL2B peroxiredoxin like 2B gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12228211 FRMPD3 FERM and PDZ domain containing 3 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1601735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 12228211 FRMPD3 FERM and PDZ domain containing 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1601735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12228211 FRMPD3 FERM and PDZ domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1601735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12228227 HAND2 heart and neural crest derivatives expressed 2 gene DOID:0060224 atrial fibrillation ISO RGD:731603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28416822|PMID:29892015|PMID:30061737 12228227 HAND2 heart and neural crest derivatives expressed 2 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:731603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:26676105 12228227 HAND2 heart and neural crest derivatives expressed 2 gene DOID:1682 congenital heart disease ISO RGD:731603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9671575 12228227 HAND2 heart and neural crest derivatives expressed 2 gene DOID:6000 congestive heart failure ISO RGD:731603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12228227 HAND2 heart and neural crest derivatives expressed 2 gene DOID:630 genetic disease ISO RGD:731603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228227 HAND2 heart and neural crest derivatives expressed 2 gene DOID:6419 tetralogy of Fallot ISO RGD:731603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25093829 12228227 HAND2 heart and neural crest derivatives expressed 2 gene DOID:769 neuroblastoma ISO RGD:731603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30127528 12228227 HAND2 heart and neural crest derivatives expressed 2 gene DOID:9003936 Cardiomegaly ISO RGD:621207 D RGD:9068941 20200609 RGD mRNA:altered expression:cardiac ventricle PMID:12359233|REF_RGD_ID:727442 12228227 HAND2 heart and neural crest derivatives expressed 2 gene DOID:9003936 Cardiomegaly ISO RGD:731603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12228227 HAND2 heart and neural crest derivatives expressed 2 gene DOID:9003936 Cardiomegaly ISO RGD:731604 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart right ventricle PMID:12359233|REF_RGD_ID:727442 12228227 HAND2 heart and neural crest derivatives expressed 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12228227 HAND2 heart and neural crest derivatives expressed 2 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:621207 D RGD:9068941 20200609 RGD protein:increased expression:heart right ventricle PMID:12955401|REF_RGD_ID:5132894 12228227 HAND2 heart and neural crest derivatives expressed 2 gene DOID:9006205 Animal Disease Models ISO RGD:731603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12228227 HAND2 heart and neural crest derivatives expressed 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:731603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12228233 IBSP integrin binding sialoprotein gene DOID:630 genetic disease ISO RGD:735575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228233 IBSP integrin binding sialoprotein gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:735575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12228233 IBSP integrin binding sialoprotein gene DOID:9000965 Neoplasm Metastasis ISO RGD:735575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22407340|PMID:24980816 12228233 IBSP integrin binding sialoprotein gene DOID:9006081 Osteolysis ISO RGD:735575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22407340 12228233 IBSP integrin binding sialoprotein gene DOID:9008939 Breast Neoplasms ISO RGD:735575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24980816 12228244 SLC30A1 solute carrier family 30 member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:731339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12228244 SLC30A1 solute carrier family 30 member 1 gene DOID:630 genetic disease ISO RGD:731339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228244 SLC30A1 solute carrier family 30 member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12228251 OR5K4 olfactory receptor family 5 subfamily K member 4 gene DOID:4990 essential tremor ISO RGD:1342893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 12228251 OR5K4 olfactory receptor family 5 subfamily K member 4 gene DOID:630 genetic disease ISO RGD:1342893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228265 MIR10A microRNA mir-10a gene DOID:10534 stomach cancer ISO RGD:1348739 D RGD:9068941 20220819 RGD miRNA:increased expression:stomach (human) PMID:34969361|REF_RGD_ID:153344525 12228265 MIR10A microRNA mir-10a gene DOID:11294 arteriovenous malformation ISO RGD:1348739 D RGD:9068941 20221013 RGD miRNA:decreased expression:blood plasma (human) PMID:23051042|REF_RGD_ID:155582214 12228265 MIR10A microRNA mir-10a gene DOID:219 colon cancer disease_progression ISO RGD:1348739 D RGD:9068941 20220825 RGD human cells in mouse model;RNA:increased expression:colon,exosome (human) PMID:28211508|REF_RGD_ID:153344546 12228265 MIR10A microRNA mir-10a gene DOID:2876 laryngeal squamous cell carcinoma severity ISO RGD:1348739 D RGD:9068941 20220825 RGD miRNA:decreased expression:blood serum (human) PMID:35117730|REF_RGD_ID:153344530 12228265 MIR10A microRNA mir-10a gene DOID:3021 acute kidney failure ISO RGD:1348739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 12228265 MIR10A microRNA mir-10a gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348739 D RGD:9068941 20220818 RGD miRNA:increased expression:esophagus squamous epithelium (human) PMID:32997362|REF_RGD_ID:153323343 12228265 MIR10A microRNA mir-10a gene DOID:3770 pulmonary fibrosis ISO RGD:1348739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 12228265 MIR10A microRNA mir-10a gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1348739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24447120 12228265 MIR10A microRNA mir-10a gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1348739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12228265 MIR10A microRNA mir-10a gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1348739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 12228265 MIR10A microRNA mir-10a gene DOID:9003613 Laryngeal Neoplasms sexual_dimorphism ISO RGD:1348739 D RGD:9068941 20220825 RGD miRNA:decreased expression:larynx epithelium (human) PMID:25266939|REF_RGD_ID:153344531 12228265 MIR10A microRNA mir-10a gene DOID:9005172 Lung Neoplasms ISO RGD:1348739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12228265 MIR10A microRNA mir-10a gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12228265 MIR10A microRNA mir-10a gene DOID:9007787 Carcinoid Tumor ISO RGD:1348739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12228265 MIR10A microRNA mir-10a gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1348739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12228265 MIR10A microRNA mir-10a gene DOID:9008939 Breast Neoplasms ISO RGD:1348739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:0050553 JMP syndrome ISO RGD:619564 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:0050700 cardiomyopathy ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10620750 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:0080199 colorectal carcinoma ameliorates ISO RGD:619564 D RGD:9068941 20220331 RGD human cell line in a mouse model PMID:25548290|PMID:27286263|REF_RGD_ID:151665507|REF_RGD_ID:151665508 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:0080199 colorectal carcinoma treatment ISO RGD:619564 D RGD:9068941 20220324 RGD PMID:23624232|REF_RGD_ID:151665352 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:10652 Alzheimer's disease ISO RGD:70496 D RGD:9068941 20200609 RGD mRNA:increased expression:frontal lobe cortex, hippocampus CA2 (rat) PMID:20529587|REF_RGD_ID:10047076 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:10652 Alzheimer's disease treatment ISO RGD:619565 D RGD:9068941 20200609 RGD PMID:17784957|REF_RGD_ID:10047104 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:114 heart disease ISO RGD:619565 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19617408|REF_RGD_ID:2311565 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:11476 osteoporosis treatment ISO RGD:70496 D RGD:9068941 20200609 RGD PMID:18442314|REF_RGD_ID:10045965 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:12236 primary biliary cholangitis ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:13580 cholestasis ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20626112 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:13619 extrahepatic cholestasis ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:1561 cognitive disorder ISO RGD:619565 D RGD:9068941 20200609 RGD associated with Chronic Cerebral Hypoperfusion; PMID:24371084|REF_RGD_ID:10412307 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:1909 melanoma ameliorates ISO RGD:619565 D RGD:9068941 20220331 RGD mouse cell line in a mouse model PMID:29907597|REF_RGD_ID:151665504 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:1993 rectum cancer susceptibility ISO RGD:619564 D RGD:9068941 20220407 RGD DNA:SNPs:introns: (rs851011, rs851006) (human) PMID:23859041|REF_RGD_ID:150573807 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:219 colon cancer susceptibility ISO RGD:619564 D RGD:9068941 20220407 RGD DNA:SNP:intron: (rs10807156) (human) PMID:23859041|REF_RGD_ID:150573807 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:219 colon cancer susceptibility ISO RGD:619564 D RGD:9068941 20220407 RGD DNA:SNP:intron: (rs851016) (human) PMID:23027623|REF_RGD_ID:13217411 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:619565 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:motor neuron: PMID:15910777|REF_RGD_ID:10412312 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:3571 liver cancer exacerbates ISO RGD:619565 D RGD:9068941 20220324 RGD PMID:17468757|REF_RGD_ID:151665350 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:619564 D RGD:9068941 20220324 RGD mRNA:increased expression:stomach (human) PMID:32243890|REF_RGD_ID:151665345 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:619564 D RGD:9068941 20220407 RGD mRNA:increased expression:stomach (human) PMID:30238991|REF_RGD_ID:151665792 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:619565 D RGD:9068941 20220331 RGD mRNA:increased expression:lung (human) PMID:31969449|REF_RGD_ID:151665505 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:397 restrictive cardiomyopathy ISO RGD:1315342|RGD:732805 D RGD:9068941 20200609 RGD PMID:11593045|REF_RGD_ID:1302548 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:70496 D RGD:9068941 20200609 RGD PMID:21894146|REF_RGD_ID:6218988 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:5082 liver cirrhosis exacerbates ISO RGD:619565 D RGD:9068941 20220324 RGD PMID:23271722|REF_RGD_ID:151665348 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:630 genetic disease ISO RGD:619564 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:619565 D RGD:9068941 20220324 RGD PMID:23271722|REF_RGD_ID:151665348 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:619565 D RGD:9068941 20220324 RGD PMID:25216638|REF_RGD_ID:151665347 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:8552 chronic myeloid leukemia ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16818652 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:9002165 Diabetic Nephropathies ISO RGD:619565 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased activity:kidney PMID:19066844|REF_RGD_ID:2311566 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:9003690 Carcinoma, Lewis Lung ameliorates ISO RGD:619565 D RGD:9068941 20220331 RGD mouse cell line in a mouse model PMID:29907597|REF_RGD_ID:151665504 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:9004250 Hepatic Insufficiency ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:9004831 Colitis-Associated Neoplasms ameliorates ISO RGD:619565 D RGD:9068941 20220331 RGD PMID:29907597|PMID:30541887|REF_RGD_ID:151665503|REF_RGD_ID:151665504 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:9004831 Colitis-Associated Neoplasms exacerbates ISO RGD:619565 D RGD:9068941 20220331 RGD PMID:24684847|REF_RGD_ID:151665506 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:9005172 Lung Neoplasms ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468755 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:9005172 Lung Neoplasms ameliorates ISO RGD:619565 D RGD:9068941 20220331 RGD PMID:31969449|REF_RGD_ID:151665505 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:9005369 Hepatomegaly ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:9005930 Endotoxemia ISO RGD:70496 D RGD:9068941 20200609 RGD protein:increased activity:small intestine mucosa PMID:21641970|REF_RGD_ID:5135029 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:9005930 Endotoxemia treatment ISO RGD:70496 D RGD:9068941 20200609 RGD PMID:24312512|REF_RGD_ID:10047418 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions susceptibility ISO RGD:619564 D RGD:9068941 20220324 RGD associated with lung non-small cell carcinoma;DNA:SNP:3' utr, intron: (rs3804451) (human) PMID:26993769|REF_RGD_ID:151665351 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:9007102 Myocardial Ischemia ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:9007188 Liver Neoplasms ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468757 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:619565 D RGD:9068941 20200609 RGD PMID:14749328|REF_RGD_ID:7495840 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:619565 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:corpus callosum, endothelial cell, astrocyte: PMID:24371084|REF_RGD_ID:10412307 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:9256 colorectal cancer exacerbates ISO RGD:619565 D RGD:9068941 20220324 RGD associated with experimental colitis PMID:22828150|REF_RGD_ID:151665346 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:9261 nasopharynx carcinoma treatment ISO RGD:619564 D RGD:9068941 20220331 RGD human cell line in a mouse model PMID:32449282|REF_RGD_ID:151665502 12228288 MAPK14 mitogen-activated protein kinase 14 gene DOID:9743 diabetic neuropathy ISO RGD:70496 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18579738|REF_RGD_ID:2311567 12228312 LAMB3 laminin subunit beta 3 gene DOID:0060737 junctional epidermolysis bullosa Herlitz type ISO RGD:1344175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz PMID:10577906|PMID:11023379|PMID:11296269|PMID:11298117|PMID:11451332|PMID:11689492|PMID:11810295|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:15725250|PMID:16199547|PMID:16403119|PMID:16439963|PMID:16473856|PMID:16971478|PMID:17476356|PMID:20301304|PMID:21801158|PMID:22931927|PMID:23278291|PMID:24033266|PMID:24947307|PMID:25525159|PMID:25708563|PMID:25741868|PMID:25950805|PMID:27062385|PMID:27375110|PMID:27480391|PMID:28087116|PMID:28392661|PMID:28492532|PMID:28830826|PMID:29334134|PMID:29900604|PMID:30544381|PMID:32484238|PMID:34231856|PMID:7550237|PMID:7698759|PMID:7706760|PMID:8362910|PMID:8541876|PMID:8755931|PMID:8824879|PMID:8983017|PMID:9160387|PMID:9205497|PMID:9242513|PMID:9326326|PMID:9457915|PMID:9579554|PMID:9690563|PMID:9767254|PMID:9856852 12228312 LAMB3 laminin subunit beta 3 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:1344175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:10577906|PMID:11023379|PMID:11298117|PMID:11451332|PMID:11689492|PMID:12813757|PMID:15311214|PMID:15538630|PMID:15663509|PMID:15725250|PMID:16439963|PMID:16473856|PMID:17115047|PMID:17476356|PMID:21801158|PMID:22931927|PMID:23278291|PMID:24617447|PMID:25708563|PMID:25741868|PMID:27062385|PMID:27375110|PMID:28087116|PMID:28492532|PMID:28830826|PMID:29334134|PMID:30544381|PMID:7698759|PMID:7706760|PMID:8824879|PMID:8983017|PMID:9038345|PMID:9205497|PMID:9242513|PMID:9501007|PMID:9690563|PMID:9767254|PMID:9856855 12228312 LAMB3 laminin subunit beta 3 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:1344175 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:10577906|PMID:11023379|PMID:11298117|PMID:11451332|PMID:11689492|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:15725250|PMID:16439963|PMID:16473856|PMID:17115047|PMID:17476356|PMID:17576681|PMID:19369679|PMID:20301304|PMID:20574443|PMID:21801158|PMID:22931927|PMID:23278291|PMID:25708563|PMID:25741868|PMID:25950805|PMID:27062385|PMID:27375110|PMID:27480391|PMID:28087116|PMID:28492532|PMID:28830826|PMID:29334134|PMID:29900604|PMID:30046887|PMID:30544381|PMID:7550237|PMID:7698759|PMID:7706760|PMID:8824879|PMID:8983017|PMID:9038345|PMID:9205497|PMID:9242513|PMID:9501007|PMID:9536098|PMID:9690563|PMID:9767254|PMID:9856855 12228312 LAMB3 laminin subunit beta 3 gene DOID:0110054 amelogenesis imperfecta type 1A ISO RGD:1344175 D RGD:7240710 20180130 OMIM 12228312 LAMB3 laminin subunit beta 3 gene DOID:0110054 amelogenesis imperfecta type 1A ISO RGD:1344175 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A PMID:10577906|PMID:11023379|PMID:11298117|PMID:11451332|PMID:11689492|PMID:11810295|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:16199547|PMID:16439963|PMID:16473856|PMID:16674655|PMID:17476356|PMID:17576681|PMID:20301304|PMID:21801158|PMID:23278291|PMID:23632796|PMID:23958762|PMID:24617447|PMID:25708563|PMID:25741868|PMID:25950805|PMID:27062385|PMID:27375110|PMID:27480391|PMID:28492532|PMID:28561256|PMID:28830826|PMID:30544381|PMID:7550237|PMID:7698759|PMID:7706760|PMID:8824879|PMID:8983017|PMID:9160387|PMID:9205497|PMID:9242513|PMID:9536098|PMID:9767254 12228312 LAMB3 laminin subunit beta 3 gene DOID:12849 autistic disorder ISO RGD:1344175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12228312 LAMB3 laminin subunit beta 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1344175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12228312 LAMB3 laminin subunit beta 3 gene DOID:3209 junctional epidermolysis bullosa ISO RGD:1344175 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa PMID:10577906|PMID:11023379|PMID:11296269|PMID:11298117|PMID:11451332|PMID:11689492|PMID:11810295|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:16199547|PMID:16473856|PMID:17476356|PMID:17576681|PMID:17916201|PMID:19369679|PMID:20301304|PMID:20574443|PMID:21801158|PMID:22931927|PMID:24033266|PMID:24617447|PMID:24947307|PMID:25525159|PMID:25708563|PMID:25741868|PMID:25950805|PMID:27062385|PMID:27375110|PMID:27480391|PMID:28492532|PMID:28561256|PMID:28830826|PMID:29334134|PMID:29900604|PMID:30046887|PMID:32484238|PMID:33274474|PMID:34231856|PMID:7550237|PMID:7698759|PMID:7706760|PMID:8824879|PMID:8983017|PMID:9038345|PMID:9205497|PMID:9242513|PMID:9326326|PMID:9501007|PMID:9536098|PMID:9690563|PMID:9767254|PMID:9856855 12228312 LAMB3 laminin subunit beta 3 gene DOID:3209 junctional epidermolysis bullosa susceptibility ISO RGD:1344175 D RGD:9068941 20200609 RGD DNA:nonsense mutation PMID:7698759|REF_RGD_ID:1600209 12228312 LAMB3 laminin subunit beta 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344175 D RGD:9068941 20200609 RGD mRNA:increased expression:lung: PMID:10964684|REF_RGD_ID:13793368 12228312 LAMB3 laminin subunit beta 3 gene DOID:5409 lung small cell carcinoma ISO RGD:1344175 D RGD:9068941 20200609 RGD DNA:hyper-methylation:promoter: PMID:12855645|REF_RGD_ID:13793369 12228312 LAMB3 laminin subunit beta 3 gene DOID:630 genetic disease ISO RGD:1344175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31036833 12228312 LAMB3 laminin subunit beta 3 gene DOID:9000850 Junctional Epidermolysis Bullosa 1A, Intermediate ISO RGD:1344175 D RGD:7240710 20220608 OMIM 12228312 LAMB3 laminin subunit beta 3 gene DOID:9001145 Junctional Epidermolysis Bullosa 1B, Severe ISO RGD:1344175 D RGD:7240710 20220608 OMIM 12228312 LAMB3 laminin subunit beta 3 gene DOID:9001600 Wounds and Injuries ISO RGD:1344175 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15541073 12228312 LAMB3 laminin subunit beta 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12228338 CCT2 chaperonin containing TCP1 subunit 2 gene DOID:11476 osteoporosis ISO RGD:1352326 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12228338 CCT2 chaperonin containing TCP1 subunit 2 gene DOID:630 genetic disease ISO RGD:1352326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12228366 ENSA endosulfine alpha gene DOID:0111940 immunodeficiency 42 ISO RGD:736594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12228366 ENSA endosulfine alpha gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:736594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12228366 ENSA endosulfine alpha gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:736594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12228366 ENSA endosulfine alpha gene DOID:1540 parathyroid carcinoma ISO RGD:736594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12228366 ENSA endosulfine alpha gene DOID:5812 MHC class II deficiency ISO RGD:736594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12228366 ENSA endosulfine alpha gene DOID:9000039 Spinal Cord Injuries ISO RGD:62007 D RGD:9068941 20200609 RGD mRNA:decreased expression:spinal cord PMID:16344894|REF_RGD_ID:2303423 12228366 ENSA endosulfine alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:736594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12228366 ENSA endosulfine alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12228377 UROC1 urocanate hydratase 1 gene DOID:0112180 urocanase deficiency ISO RGD:1347314 D RGD:7240710 20180130 OMIM 12228377 UROC1 urocanate hydratase 1 gene DOID:0112180 urocanase deficiency ISO RGD:1347314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Urocanate hydratase deficiency PMID:18414213|PMID:19304569|PMID:25741868|PMID:28492532 12228377 UROC1 urocanate hydratase 1 gene DOID:1059 intellectual disability ISO RGD:1347314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19304569 12228377 UROC1 urocanate hydratase 1 gene DOID:630 genetic disease ISO RGD:1347314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228377 UROC1 urocanate hydratase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1347314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12228377 UROC1 urocanate hydratase 1 gene DOID:9004866 Ataxia ISO RGD:1347314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19304569 12228377 UROC1 urocanate hydratase 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12228377 UROC1 urocanate hydratase 1 gene DOID:9270 alkaptonuria ISO RGD:1347314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12228409 MICOS13 mitochondrial contact site and cristae organizing system subunit 13 gene DOID:0111499 combined oxidative phosphorylation deficiency 37 ISO RGD:1601829 D RGD:7240710 20190315 OMIM 12228409 MICOS13 mitochondrial contact site and cristae organizing system subunit 13 gene DOID:0111499 combined oxidative phosphorylation deficiency 37 ISO RGD:1601829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 37 | ClinVar Annotator: match by term: Mitochondrial hepato-encephalopathy PMID:27485409|PMID:27623147|PMID:29618761 12228417 KIF13B kinesin family member 13B gene DOID:630 genetic disease ISO RGD:1349792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228461 FFAR4 free fatty acid receptor 4 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:1317919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:24206907|PMID:28492532 12228461 FFAR4 free fatty acid receptor 4 gene DOID:630 genetic disease ISO RGD:1317919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228461 FFAR4 free fatty acid receptor 4 gene DOID:9970 obesity ISO RGD:1317919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Body mass index quantitative trait locus 10 PMID:22343897|PMID:27068006 12228461 FFAR4 free fatty acid receptor 4 gene DOID:9970 obesity susceptibility ISO RGD:1317919 D RGD:7240710 20190502 OMIM 12228467 KIF2A kinesin family member 2A gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:735496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23603762 12228467 KIF2A kinesin family member 2A gene DOID:0090134 complex cortical dysplasia with other brain malformations 3 ISO RGD:735496 D RGD:7240710 20180130 OMIM 12228467 KIF2A kinesin family member 2A gene DOID:0090134 complex cortical dysplasia with other brain malformations 3 ISO RGD:735496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 3 PMID:23603762|PMID:25741868|PMID:27747449|PMID:28492532 12228467 KIF2A kinesin family member 2A gene DOID:10907 microcephaly ISO RGD:735496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12228467 KIF2A kinesin family member 2A gene DOID:1826 epilepsy ISO RGD:735496 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12228467 KIF2A kinesin family member 2A gene DOID:630 genetic disease ISO RGD:735496 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12228467 KIF2A kinesin family member 2A gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:735496 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 12228467 KIF2A kinesin family member 2A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12228504 ZCCHC17 zinc finger CCHC-type containing 17 gene DOID:630 genetic disease ISO RGD:1604815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228526 ENOSF1 enolase superfamily member 1 gene DOID:12849 autistic disorder ISO RGD:1346972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12228526 ENOSF1 enolase superfamily member 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1346972 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:25741868|PMID:35931051 12228526 ENOSF1 enolase superfamily member 1 gene DOID:630 genetic disease ISO RGD:1346972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228526 ENOSF1 enolase superfamily member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12228526 ENOSF1 enolase superfamily member 1 gene DOID:9006803 DYSKERATOSIS CONGENITA, DIGENIC ISO RGD:1346972 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, digenic PMID:25741868|PMID:35931051 12228526 ENOSF1 enolase superfamily member 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1346972 D RGD:9068941 20220616 RGD DNA:SNP:cds:rs699517 (human) PMID:28347776|REF_RGD_ID:152995291 12228548 SEL1L SEL1L adaptor subunit of ERAD E3 ubiquitin ligase gene DOID:0050753 cerebellar ataxia IAGP D RGD:12801476 20210603 OMIA Ataxia, cerebellar, progressive early-onset, SEL1L-related PMID:22719266 12228548 SEL1L SEL1L adaptor subunit of ERAD E3 ubiquitin ligase gene DOID:1793 pancreatic cancer ISO RGD:1351070 D RGD:9068941 20200609 RGD PMID:14508516|REF_RGD_ID:2317190 12228548 SEL1L SEL1L adaptor subunit of ERAD E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1351070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228574 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12228574 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868|PMID:28492532 12228574 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:1351399 D RGD:7240710 20180130 OMIM 12228574 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:1351399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36 PMID:16199547|PMID:17576681|PMID:22492991|PMID:23033978|PMID:23934111|PMID:24476948|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26467025|PMID:26482601|PMID:27781031|PMID:28492532|PMID:28777499|PMID:28778787|PMID:28887793|PMID:28940310|PMID:31130284|PMID:32238909|PMID:32681751|PMID:33734437|PMID:9536098 12228574 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:1059 intellectual disability ISO RGD:1351399 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 12228574 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:10907 microcephaly ISO RGD:1351399 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 12228574 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:12849 autistic disorder ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12228574 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:1826 epilepsy ISO RGD:1351399 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizure PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 12228574 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:5212 congenital disorder of glycosylation ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:32681751|PMID:33734437 12228574 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:5419 schizophrenia ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12228574 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:630 genetic disease ISO RGD:1351399 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23033978|PMID:23934111|PMID:24476948|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26467025|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 12228574 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9001793 Generalized Epilepsy ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 12228574 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 12228574 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9005603 Muscle Hypotonia ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular hypotonia PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 12228574 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9005603 Muscle Hypotonia ISO RGD:1351399 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 12228574 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9007 sudden infant death syndrome ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 12228574 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32681751 12228605 KCNK12 potassium two pore domain channel subfamily K member 12 gene DOID:0070271 Lynch syndrome 1 ISO RGD:68984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 12228605 KCNK12 potassium two pore domain channel subfamily K member 12 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:68984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 12228605 KCNK12 potassium two pore domain channel subfamily K member 12 gene DOID:3883 Lynch syndrome ISO RGD:68984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:18269114|PMID:24323032|PMID:24362816|PMID:28135145|PMID:28492532 12228605 KCNK12 potassium two pore domain channel subfamily K member 12 gene DOID:630 genetic disease ISO RGD:68984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228605 KCNK12 potassium two pore domain channel subfamily K member 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:68984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:24728327|PMID:25741868 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:0050593 primary congenital glaucoma ISO RGD:736765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary congenital glaucoma PMID:10227395|PMID:10655546|PMID:11184479|PMID:11403040|PMID:11980847|PMID:12036985|PMID:12525557|PMID:14507861|PMID:15037581|PMID:15255109|PMID:15342693|PMID:16384942|PMID:16735994|PMID:17224759|PMID:17363580|PMID:17563717|PMID:17591938|PMID:18227148|PMID:18414103|PMID:18537981|PMID:18622259|PMID:18852424|PMID:19195637|PMID:19204079|PMID:19234632|PMID:20151268|PMID:20664688|PMID:21081970|PMID:21168818|PMID:21306220|PMID:21600657|PMID:21850185|PMID:21854771|PMID:22942166|PMID:23218183|PMID:23218701|PMID:24033266|PMID:24227805|PMID:24940937|PMID:25109919|PMID:25261878|PMID:25741868|PMID:25978063|PMID:26550445|PMID:27243976|PMID:27272408|PMID:27508083|PMID:27820421|PMID:28492532|PMID:30662834|PMID:31024815|PMID:32830442|PMID:32832252|PMID:32860008|PMID:9463332|PMID:94927261|PMID:9497261 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:0060648 anterior segment dysgenesis ISO RGD:736765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: Ocular anterior segment dysgenesis PMID:10655546|PMID:11403040|PMID:11527932|PMID:12036985|PMID:15342693|PMID:15475877|PMID:17591938|PMID:18470941|PMID:18622259|PMID:18852424|PMID:19179758|PMID:19234632|PMID:19643970|PMID:22004014|PMID:23218701|PMID:23922489|PMID:24033266|PMID:24281366|PMID:24940937|PMID:25741868|PMID:26550445|PMID:27243976|PMID:27272408|PMID:27508083|PMID:27777502|PMID:27820421|PMID:28192799|PMID:28448622|PMID:28492532|PMID:30520782|PMID:32499604|PMID:32832252|PMID:9097971|PMID:9497261 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:0060673 Peters anomaly ISO RGD:736765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:10655546|PMID:11403040|PMID:11527932|PMID:11558822|PMID:11774072|PMID:11854439|PMID:11980847|PMID:12036985|PMID:12525557|PMID:14507861|PMID:15037581|PMID:15255109|PMID:15342693|PMID:16688110|PMID:16735991|PMID:16735994|PMID:16862072|PMID:17363580|PMID:17563717|PMID:17591938|PMID:17718864|PMID:18470941|PMID:18537981|PMID:18622259|PMID:18852424|PMID:19204079|PMID:19234632|PMID:19236111|PMID:19536304|PMID:19597567|PMID:19643970|PMID:19744731|PMID:19793111|PMID:20151268|PMID:20198978|PMID:20664688|PMID:21081970|PMID:21168818|PMID:21572728|PMID:21815720|PMID:21850185|PMID:21854771|PMID:22004014|PMID:22128238|PMID:22942166|PMID:23028769|PMID:23218183|PMID:23218701|PMID:23922489|PMID:24033266|PMID:24123366|PMID:24227805|PMID:24281366|PMID:25091052|PMID:25333069|PMID:25527694|PMID:25580891|PMID:25646030|PMID:25741868|PMID:25950505|PMID:25978063|PMID:26550445|PMID:26997785|PMID:27060699|PMID:27243976|PMID:27270415|PMID:27272408|PMID:27408750|PMID:27508083|PMID:27535533|PMID:27777502|PMID:27820421|PMID:28384041|PMID:28448622|PMID:28492532|PMID:28620713|PMID:29142762|PMID:29556725|PMID:30108387|PMID:30484747|PMID:30520782|PMID:30653986|PMID:30788381|PMID:31024815|PMID:32476818|PMID:32499604|PMID:32510024|PMID:32830442|PMID:32832252|PMID:32883240|PMID:34956319|PMID:9097971|PMID:9497261 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:0080610 anterior segment dysgenesis 5 ISO RGD:736765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 PMID:10655546|PMID:11403040|PMID:11527932|PMID:11558822|PMID:11774072|PMID:11854439|PMID:11980847|PMID:12036985|PMID:12525557|PMID:14507861|PMID:15037581|PMID:15255109|PMID:15342693|PMID:16688110|PMID:16735991|PMID:16735994|PMID:16862072|PMID:17363580|PMID:17563717|PMID:17591938|PMID:17718864|PMID:18470941|PMID:18537981|PMID:18622259|PMID:18852424|PMID:19204079|PMID:19234632|PMID:19236111|PMID:19536304|PMID:19597567|PMID:19643970|PMID:19744731|PMID:19793111|PMID:20151268|PMID:20198978|PMID:20664688|PMID:21081970|PMID:21168818|PMID:21572728|PMID:21815720|PMID:21850185|PMID:21854771|PMID:22004014|PMID:22128238|PMID:22942166|PMID:23028769|PMID:23218183|PMID:23218701|PMID:23922489|PMID:24033266|PMID:24123366|PMID:24227805|PMID:24281366|PMID:25091052|PMID:25333069|PMID:25527694|PMID:25580891|PMID:25646030|PMID:25741868|PMID:25950505|PMID:25978063|PMID:26550445|PMID:26997785|PMID:27060699|PMID:27243976|PMID:27270415|PMID:27272408|PMID:27408750|PMID:27508083|PMID:27535533|PMID:27777502|PMID:27820421|PMID:28384041|PMID:28448622|PMID:28492532|PMID:28620713|PMID:29142762|PMID:29556725|PMID:30108387|PMID:30484747|PMID:30520782|PMID:30653986|PMID:30788381|PMID:31024815|PMID:32476818|PMID:32499604|PMID:32510024|PMID:32830442|PMID:32832252|PMID:32883240|PMID:34956319|PMID:9097971|PMID:9497261 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:0080611 anterior segment dysgenesis 6 ISO RGD:736765 D RGD:7240710 20190315 OMIM 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:0080611 anterior segment dysgenesis 6 ISO RGD:736765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 6 | ClinVar Annotator: match by term: Anterior segment dysgenesis 6, multiple subtypes PMID:10227395|PMID:10426814|PMID:10655546|PMID:10739169|PMID:10910054|PMID:11403040|PMID:11527932|PMID:11774072|PMID:11980847|PMID:12036985|PMID:12372064|PMID:12525557|PMID:15037581|PMID:15342693|PMID:15621878|PMID:16384942|PMID:16735994|PMID:17164573|PMID:17563717|PMID:17591938|PMID:17893647|PMID:18055790|PMID:18227148|PMID:18414103|PMID:18470941|PMID:18537981|PMID:18622259|PMID:18852424|PMID:19204079|PMID:19234632|PMID:19247456|PMID:19536304|PMID:19597567|PMID:19643970|PMID:19744731|PMID:19793111|PMID:20151268|PMID:21081970|PMID:21168818|PMID:21572728|PMID:21600657|PMID:21850185|PMID:21854771|PMID:22004014|PMID:22878448|PMID:22942166|PMID:23218183|PMID:23218701|PMID:23922489|PMID:24033266|PMID:24281366|PMID:24940937|PMID:25091052|PMID:25109919|PMID:25527694|PMID:25646030|PMID:25741868|PMID:25950505|PMID:25978063|PMID:26550445|PMID:26550974|PMID:26997785|PMID:27060699|PMID:27243976|PMID:27272408|PMID:27508083|PMID:27777502|PMID:27820421|PMID:28448622|PMID:28492532|PMID:28644236|PMID:31024815|PMID:32224865|PMID:32476818|PMID:32499604|PMID:32832252|PMID:9097971|PMID:9463332|PMID:94927261|PMID:9497261 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:0080690 RASopathy ISO RGD:736765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:0111222 centronuclear myopathy 5 ISO RGD:736765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 5 PMID:10655546|PMID:11774072|PMID:11980847|PMID:14507861|PMID:15037581|PMID:16688110|PMID:16735991|PMID:16735994|PMID:17563717|PMID:17591938|PMID:17718864|PMID:18622259|PMID:18852424|PMID:19204079|PMID:19236111|PMID:19536304|PMID:19597567|PMID:19643970|PMID:19744731|PMID:19793111|PMID:21081970|PMID:21168818|PMID:23028769|PMID:24033266|PMID:24123366|PMID:24281366|PMID:25091052|PMID:25333069|PMID:25580891|PMID:25741868|PMID:25978063|PMID:26997785|PMID:27243976|PMID:27408750|PMID:27508083|PMID:27535533|PMID:28384041|PMID:28492532|PMID:28620713|PMID:29142762|PMID:29556725|PMID:30108387|PMID:30653986|PMID:30788381|PMID:32510024 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:10603 glucose intolerance ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27036855 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:1068 juvenile glaucoma ISO RGD:736765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Glaucoma of childhood PMID:10227395|PMID:15342693|PMID:16735994|PMID:18227148|PMID:18414103|PMID:18537981|PMID:21081970|PMID:21600657|PMID:21854771|PMID:23218183|PMID:23218701|PMID:24033266|PMID:25109919|PMID:25741868|PMID:27243976|PMID:27272408|PMID:27820421|PMID:28492532|PMID:32832252|PMID:94927261|PMID:9497261 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:1070 primary open angle glaucoma ISO RGD:736765 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:10655546|PMID:15342693|PMID:18470941|PMID:19234632|PMID:22004014|PMID:24281366|PMID:25741868|PMID:26550445|PMID:27508083|PMID:27777502|PMID:28492532|PMID:30520782 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:1070 primary open angle glaucoma severity ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:snp:cds:p.N453S (human) PMID:16319821|REF_RGD_ID:7800664 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:missense mutations:exons:p.P193L, p.E229K, p.M292K (human) PMID:17563717|REF_RGD_ID:7800695 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:snp, missense mutations, haplotype:promoter, cds:multiple (human) PMID:18055790|REF_RGD_ID:7800696 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:snp:cds:p.L432V (human) PMID:18483560|REF_RGD_ID:7800658 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:11054 urinary bladder cancer ISO RGD:736765 D RGD:9068941 20200609 RGD PMID:21990318|REF_RGD_ID:7257730 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:11211 buphthalmos ISO RGD:736765 D RGD:7240710 20180130 OMIM 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:11211 buphthalmos ISO RGD:736765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital glaucoma | ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A | ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset PMID:10227395|PMID:10426814|PMID:10655546|PMID:10739169|PMID:10910054|PMID:11184479|PMID:11403040|PMID:11527932|PMID:11558822|PMID:11774072|PMID:11854439|PMID:11980847|PMID:12036985|PMID:12372064|PMID:12525557|PMID:14507861|PMID:14635112|PMID:15037581|PMID:15255109|PMID:15342693|PMID:15621878|PMID:16384942|PMID:16688110|PMID:16735991|PMID:16735994|PMID:16862072|PMID:17164573|PMID:17363580|PMID:17563717|PMID:17576681|PMID:17591938|PMID:17718864|PMID:17893647|PMID:18055790|PMID:18227148|PMID:18414103|PMID:18470941|PMID:18537981|PMID:18622259|PMID:18852424|PMID:19195637|PMID:19204079|PMID:19234632|PMID:19236111|PMID:19247456|PMID:19536304|PMID:19597567|PMID:19643970|PMID:19744731|PMID:19793111|PMID:19807744|PMID:20057908|PMID:20151268|PMID:20198978|PMID:20664688|PMID:21081970|PMID:21168818|PMID:21572728|PMID:21600657|PMID:21815720|PMID:21850185|PMID:21854771|PMID:22004014|PMID:22128238|PMID:22942166|PMID:23028769|PMID:23218183|PMID:23218701|PMID:23922489|PMID:24033266|PMID:24123366|PMID:24227805|PMID:24281366|PMID:24940937|PMID:25091052|PMID:25109919|PMID:25261878|PMID:25333069|PMID:25527694|PMID:25580891|PMID:25646030|PMID:25741868|PMID:25950505|PMID:25978063|PMID:26550445|PMID:26550974|PMID:26997785|PMID:27060699|PMID:27243976|PMID:27270415|PMID:27272408|PMID:27408750|PMID:27508083|PMID:27535533|PMID:27777502|PMID:2782041|PMID:27820421|PMID:28192799|PMID:28384041|PMID:28448622|PMID:28492532|PMID:28620713|PMID:28644236|PMID:29142762|PMID:29556725|PMID:30108387|PMID:30484747|PMID:30520782|PMID:30653986|PMID:30662834|PMID:30788381|PMID:31024815|PMID:31251480|PMID:32224865|PMID:32476818|PMID:32499604|PMID:32510024|PMID:32830442|PMID:32832252|PMID:32860008|PMID:32883240|PMID:34956319|PMID:9097971|PMID:9463332|PMID:94927261|PMID:9497261|PMID:9536098 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:11211 buphthalmos susceptibility ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:deletion, snp:exons:g.4339delG, p.G61E (human) PMID:20664688|REF_RGD_ID:7800680 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:11211 buphthalmos susceptibility ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N (human) PMID:19597567|REF_RGD_ID:7800689 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:11211 buphthalmos susceptibility ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:polymorphisms:multiple (human) PMID:23922489|REF_RGD_ID:7800657 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:11211 buphthalmos susceptibility ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E387K (human) PMID:10227395|REF_RGD_ID:7800670 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:11212 hydrophthalmos ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:insertion, deletions:exons, intron:g.1209_1214insC, g.1410_1422del, g.1389-?-1422+?del (human) PMID:9097971|REF_RGD_ID:1599716 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:12270 coloboma ISO RGD:736765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coloboma of eye PMID:10655546|PMID:11558822|PMID:11774072|PMID:11980847|PMID:14507861|PMID:15037581|PMID:15342693|PMID:16688110|PMID:16735991|PMID:16735994|PMID:17563717|PMID:17591938|PMID:17718864|PMID:17893647|PMID:18470941|PMID:18622259|PMID:18852424|PMID:19204079|PMID:19234632|PMID:19236111|PMID:19536304|PMID:19597567|PMID:19643970|PMID:19744731|PMID:19793111|PMID:21081970|PMID:21168818|PMID:21854771|PMID:22004014|PMID:23028769|PMID:24033266|PMID:24123366|PMID:24281366|PMID:25091052|PMID:25333069|PMID:25580891|PMID:25741868|PMID:25950505|PMID:25978063|PMID:26550445|PMID:26997785|PMID:27243976|PMID:27408750|PMID:27508083|PMID:27535533|PMID:27777502|PMID:28384041|PMID:28492532|PMID:28620713|PMID:29142762|PMID:29556725|PMID:30108387|PMID:30520782|PMID:30653986|PMID:30788381|PMID:32510024|PMID:9097971|PMID:9497261 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:1612 breast cancer susceptibility ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:snp:cds:p.A119S (human) PMID:10739169|REF_RGD_ID:7829734 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:1749 squamous cell carcinoma ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22114726 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:1909 melanoma ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:2773 contact dermatitis ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:3458 breast adenocarcinoma ISO RGD:2460 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary epithelium (rat) PMID:11097088|REF_RGD_ID:7829735 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:2460 D RGD:9068941 20200609 RGD protein:increased expression:esophagus (rat) PMID:18618592|REF_RGD_ID:7829715 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:3883 Lynch syndrome ISO RGD:736765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:736765 D RGD:9068941 20200609 RGD Carcinoma, Squamous Cell;DNA:snp:cds:p.A119S (human) PMID:10739169|REF_RGD_ID:7829734 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:3910 lung adenocarcinoma ISO RGD:736765 D RGD:9068941 20220519 RGD protein:increased expression:lung (human) PMID:19358281|REF_RGD_ID:152177688 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:5844 myocardial infarction ameliorates ISO RGD:2460 D RGD:9068941 20230330 RGD PMID:33389498|REF_RGD_ID:242905187 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:630 genetic disease ISO RGD:736765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:657 adenoma ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11376689 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17704407 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17372243 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9003936 Cardiomegaly ISO RGD:10439 D RGD:9068941 20200609 RGD associated with Hypertension PMID:20805442|REF_RGD_ID:7829714 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9003936 Cardiomegaly ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18725507 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:2460 D RGD:9068941 20200609 RGD associated with Hypertension PMID:20805442|REF_RGD_ID:7829714 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9005172 Lung Neoplasms ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11376689 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9005369 Hepatomegaly ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27036855 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9007147 Glaucoma 3, Primary Infantile, B ISO RGD:736765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary congenital glaucoma type 3B PMID:10227395|PMID:10426814|PMID:10739169|PMID:11403040|PMID:11527932|PMID:11774072|PMID:11980847|PMID:12036985|PMID:12372064|PMID:12525557|PMID:15037581|PMID:15342693|PMID:15621878|PMID:16384942|PMID:16735994|PMID:17164573|PMID:17563717|PMID:17591938|PMID:17893647|PMID:18055790|PMID:18227148|PMID:18414103|PMID:18470941|PMID:18537981|PMID:18622259|PMID:18852424|PMID:19234632|PMID:19247456|PMID:19597567|PMID:19643970|PMID:19744731|PMID:19793111|PMID:20151268|PMID:21081970|PMID:21572728|PMID:21600657|PMID:21850185|PMID:21854771|PMID:22004014|PMID:22942166|PMID:23218183|PMID:23218701|PMID:23922489|PMID:24033266|PMID:24281366|PMID:25091052|PMID:25109919|PMID:25527694|PMID:25646030|PMID:25741868|PMID:25950505|PMID:25978063|PMID:26550445|PMID:26550974|PMID:26997785|PMID:27060699|PMID:27243976|PMID:27272408|PMID:27777502|PMID:27820421|PMID:28448622|PMID:28492532|PMID:28644236|PMID:31024815|PMID:32224865|PMID:32476818|PMID:32499604|PMID:32832252|PMID:9097971|PMID:9463332|PMID:94927261|PMID:9497261 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22114726 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736765 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:33814510 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20878130 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037|PMID:17297925 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9452 fatty liver disease ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27036855 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22674224 12228611 CYP1B1 cytochrome P450 family 1 subfamily B member 1 gene DOID:9970 obesity ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27036855 12228617 POU2F2 POU class 2 homeobox 2 gene DOID:0050888 syndromic intellectual disability ISO RGD:1347223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 12228617 POU2F2 POU class 2 homeobox 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1347223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12228617 POU2F2 POU class 2 homeobox 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1347223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12228617 POU2F2 POU class 2 homeobox 2 gene DOID:2340 craniosynostosis ISO RGD:1347223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:28492532 12228617 POU2F2 POU class 2 homeobox 2 gene DOID:5419 schizophrenia ISO RGD:1347223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12228617 POU2F2 POU class 2 homeobox 2 gene DOID:630 genetic disease ISO RGD:1347223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228617 POU2F2 POU class 2 homeobox 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1347223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12228617 POU2F2 POU class 2 homeobox 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1347223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12228617 POU2F2 POU class 2 homeobox 2 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1347223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 12228617 POU2F2 POU class 2 homeobox 2 gene DOID:9269 maple syrup urine disease ISO RGD:1347223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12228645 DUSP7 dual specificity phosphatase 7 gene DOID:0080600 COVID-19 ISO RGD:1350752 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12228645 DUSP7 dual specificity phosphatase 7 gene DOID:630 genetic disease ISO RGD:1350752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228652 RELT RELT TNF receptor gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1313376 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12228652 RELT RELT TNF receptor gene DOID:0111722 amelogenesis imperfecta type 3C ISO RGD:1313376 D RGD:7240710 20190424 OMIM 12228652 RELT RELT TNF receptor gene DOID:0111722 amelogenesis imperfecta type 3C ISO RGD:1313376 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3c PMID:28492532|PMID:30506946|PMID:32052416 12228652 RELT RELT TNF receptor gene DOID:1059 intellectual disability ISO RGD:1313376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12228652 RELT RELT TNF receptor gene DOID:630 genetic disease ISO RGD:1313376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228685 DOK2 docking protein 2 gene DOID:3069 malignant astrocytoma disease_progression ISO RGD:1322166 D RGD:9068941 20220512 RGD mRNA,protein:increased expression, increased phosphorylation:astrocytoma (human) PMID:27975172|REF_RGD_ID:152177494 12228685 DOK2 docking protein 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1322166 D RGD:9068941 20220519 RGD mRNA:decreased expression:lung (human) PMID:20139980|REF_RGD_ID:152177521 12228685 DOK2 docking protein 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1322167 D RGD:9068941 20220519 RGD PMID:20139980|REF_RGD_ID:152177521 12228685 DOK2 docking protein 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1332569 D RGD:9068941 20220512 RGD PMID:30475228|REF_RGD_ID:152177492 12228685 DOK2 docking protein 2 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1322167 D RGD:9068941 20220512 RGD PMID:24255704|REF_RGD_ID:152177493 12228685 DOK2 docking protein 2 gene DOID:630 genetic disease ISO RGD:1322166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228685 DOK2 docking protein 2 gene DOID:8778 Crohn's disease ISO RGD:1322166 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 12228685 DOK2 docking protein 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1322166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20139980 12228695 IQSEC3 IQ motif and Sec7 domain ArfGEF 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1605175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12228695 IQSEC3 IQ motif and Sec7 domain ArfGEF 3 gene DOID:630 genetic disease ISO RGD:1605175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228695 IQSEC3 IQ motif and Sec7 domain ArfGEF 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12228730 ARMC1 armadillo repeat containing 1 gene DOID:630 genetic disease ISO RGD:1343337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228743 ECHDC3 enoyl-CoA hydratase domain containing 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1351756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12228743 ECHDC3 enoyl-CoA hydratase domain containing 3 gene DOID:0080600 COVID-19 ISO RGD:1351756 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12228743 ECHDC3 enoyl-CoA hydratase domain containing 3 gene DOID:630 genetic disease ISO RGD:1351756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228755 LOC487174 protocadherin beta-7 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1314071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12228755 LOC487174 protocadherin beta-7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314071 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12228755 LOC487174 protocadherin beta-7 gene DOID:630 genetic disease ISO RGD:1314071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228755 LOC487174 protocadherin beta-7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12228755 LOC487174 protocadherin beta-7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314071 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12228760 B4GALT3 beta-1,4-galactosyltransferase 3 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1354334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12228760 B4GALT3 beta-1,4-galactosyltransferase 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1354334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12228760 B4GALT3 beta-1,4-galactosyltransferase 3 gene DOID:630 genetic disease ISO RGD:1354334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228760 B4GALT3 beta-1,4-galactosyltransferase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12228778 ZNF276 zinc finger protein 276 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1316682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12228778 ZNF276 zinc finger protein 276 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1316682 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12228778 ZNF276 zinc finger protein 276 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1316682 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:09399890|PMID:09721219|PMID:10090479|PMID:10094191|PMID:10521298|PMID:11091222|PMID:12444097|PMID:12955722|PMID:15059067|PMID:15522956|PMID:15523645|PMID:15643609|PMID:16084127|PMID:16199547|PMID:17327415|PMID:17576681|PMID:17924555|PMID:18414213|PMID:19109555|PMID:19139070|PMID:19278965|PMID:19367192|PMID:21273304|PMID:21659346|PMID:22178060|PMID:22778927|PMID:23021409|PMID:23613520|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24584348|PMID:24728327|PMID:24793135|PMID:25168418|PMID:25741868|PMID:26296701|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27041517|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28873162|PMID:29098742|PMID:29904161|PMID:30032139|PMID:30792206|PMID:30919572|PMID:31248416|PMID:31586946|PMID:32546565|PMID:33172906|PMID:33686268|PMID:33718801|PMID:34512202|PMID:9371798|PMID:9399890|PMID:9536098 12228778 ZNF276 zinc finger protein 276 gene DOID:10907 microcephaly ISO RGD:1316682 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:26689913|PMID:28202063|PMID:28492532|PMID:30032139 12228778 ZNF276 zinc finger protein 276 gene DOID:13636 Fanconi anemia ISO RGD:1316682 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:10090479|PMID:10094191|PMID:10521298|PMID:11091222|PMID:12444097|PMID:15059067|PMID:15523645|PMID:15643609|PMID:16084127|PMID:16199547|PMID:17576681|PMID:17924555|PMID:18414213|PMID:19278965|PMID:19367192|PMID:21273304|PMID:21659346|PMID:22178060|PMID:22778927|PMID:23021409|PMID:23613520|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24584348|PMID:24728327|PMID:24793135|PMID:25741868|PMID:26296701|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27041517|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28623394|PMID:28717661|PMID:28767289|PMID:29098742|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30792206|PMID:30919572|PMID:31586946|PMID:32546565|PMID:33172906|PMID:33686268|PMID:33718801|PMID:34512202|PMID:9371798|PMID:9536098|PMID:9721219 12228778 ZNF276 zinc finger protein 276 gene DOID:13636 Fanconi anemia ISO RGD:1316682 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:10090479|PMID:10094191|PMID:10521298|PMID:11091222|PMID:12444097|PMID:12697994|PMID:15059067|PMID:15523645|PMID:15643609|PMID:16084127|PMID:16199547|PMID:17327415|PMID:17576681|PMID:17924555|PMID:18414213|PMID:19278965|PMID:19367192|PMID:21273304|PMID:21659346|PMID:22178060|PMID:22778927|PMID:23021409|PMID:23613520|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24584348|PMID:24728327|PMID:24793135|PMID:25640679|PMID:25741868|PMID:26296701|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27041517|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28623394|PMID:28717661|PMID:28767289|PMID:29098742|PMID:29779353|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30792206|PMID:30919572|PMID:31248416|PMID:31586946|PMID:32546565|PMID:33172906|PMID:33686268|PMID:33718801|PMID:34512202|PMID:9371798|PMID:9536098|PMID:9721219 12228778 ZNF276 zinc finger protein 276 gene DOID:14780 KBG syndrome ISO RGD:1316682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 12228778 ZNF276 zinc finger protein 276 gene DOID:2394 ovarian cancer ISO RGD:1316682 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:26467025|PMID:28202063|PMID:28492532|PMID:30032139|PMID:9371798 12228778 ZNF276 zinc finger protein 276 gene DOID:630 genetic disease ISO RGD:1316682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12228778 ZNF276 zinc finger protein 276 gene DOID:769 neuroblastoma ISO RGD:1316682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:15059067|PMID:17576681|PMID:24584348|PMID:27041517|PMID:28060124|PMID:28492532|PMID:29098742|PMID:9536098 12228796 SARM1 sterile alpha and TIR motif containing 1 gene DOID:0111678 hereditary folate malabsorption ISO RGD:1320776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital defect of folate absorption PMID:11807405|PMID:17129779|PMID:17446347|PMID:19740703|PMID:20301716|PMID:20686069|PMID:21489556|PMID:22345511|PMID:25741868|PMID:27664775|PMID:28492532 12228796 SARM1 sterile alpha and TIR motif containing 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1320776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478430 12228796 SARM1 sterile alpha and TIR motif containing 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1320776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12228796 SARM1 sterile alpha and TIR motif containing 1 gene DOID:630 genetic disease ISO RGD:1320776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11807405|PMID:17129779|PMID:19740703|PMID:20301716|PMID:21489556|PMID:25741868|PMID:27664775|PMID:28492532 12228809 NOX1 NADPH oxidase 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:732308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very early onset inflammatory bowel disease PMID:28492532|PMID:30709874 12228809 NOX1 NADPH oxidase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12228809 NOX1 NADPH oxidase 1 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:732308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:21053371|PMID:23712037|PMID:27179713|PMID:28492532|PMID:29377098 12228809 NOX1 NADPH oxidase 1 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:732308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 12228809 NOX1 NADPH oxidase 1 gene DOID:12849 autistic disorder ISO RGD:732308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12228809 NOX1 NADPH oxidase 1 gene DOID:6000 congestive heart failure ISO RGD:732308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 12228809 NOX1 NADPH oxidase 1 gene DOID:630 genetic disease ISO RGD:732308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228809 NOX1 NADPH oxidase 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:732308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20832062 12228809 NOX1 NADPH oxidase 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:732308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20715105 12228809 NOX1 NADPH oxidase 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:732308 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:peripheral blood mononuclear cell (human) PMID:16380495|REF_RGD_ID:1580973 12228809 NOX1 NADPH oxidase 1 gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:732308 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 12228826 SPOUT1 SPOUT domain containing methyltransferase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1343592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12228826 SPOUT1 SPOUT domain containing methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1343592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228845 FAM117A family with sequence similarity 117 member A gene DOID:630 genetic disease ISO RGD:1604587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:0050742 nicotine dependence ISO RGD:733809 D RGD:7240710 20230505 OMIM 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:0050742 nicotine dependence ISO RGD:733809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tobacco addiction, susceptibility to PMID:25741868|PMID:28263315|PMID:28492532 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:733809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:0080855 Parkinsonism ISO RGD:3715 D RGD:9068941 20200609 RGD protein:decreased expression:striatum PMID:15680936|REF_RGD_ID:1625663 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:10763 hypertension ISO RGD:3715 D RGD:9068941 20200609 RGD protein:increased expression:caudate-putamen PMID:9074541|REF_RGD_ID:1625656 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:11315 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12699766|PMID:15059031|PMID:19120712|PMID:22034972 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:733809 D RGD:9068941 20200609 RGD with prenatal smoke exposure;DNA:repeat:3' utr: (human) PMID:12915833|REF_RGD_ID:1358582 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:11315 D RGD:9068941 20220825 MouseDO OMIM:137580 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:12700 hyperprolactinemia treatment ISO RGD:3715 D RGD:9068941 20200609 RGD PMID:26297122|REF_RGD_ID:13506955 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:1307 dementia ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18579413 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:14330 Parkinson's disease ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16112329|PMID:16963468|PMID:19590691|PMID:9763484 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:1574 alcohol use disorder ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27219321 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:2030 anxiety disorder ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19120712 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:2769 tic disorder ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19120712 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:3070 high grade glioma ISO RGD:3715 D RGD:9068941 20200609 RGD protein:decreased expression PMID:14698456|REF_RGD_ID:1625668 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:535 sleep disorder ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24403155 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:5419 schizophrenia ISO RGD:11315 D RGD:9068941 20220825 MouseDO OMIM:181500 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:5419 schizophrenia ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762269 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:630 genetic disease ISO RGD:733809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10889530|PMID:16103889|PMID:16171832|PMID:16212992|PMID:18614672|PMID:19590515|PMID:20427663|PMID:25313507|PMID:25331903|PMID:25741868|PMID:26931468|PMID:28492532|PMID:29559554 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:670 amphetamine abuse ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12931138 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:863 nervous system disease ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12890883 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:8646 substance-induced psychosis ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12931138 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:9000123 Deglutition Disorders ISO RGD:733809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysphagia 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27219321 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:9001129 Alcohol Withdrawal Delirium ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27219321 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:9002362 Hyperkinesis ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18347339|PMID:18588534 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:9002955 Nerve Degeneration ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12871582|PMID:18206288 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:9004120 Alcohol Withdrawal Seizures ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27219321 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:9004890 Paranoid Disorders ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8825631 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:733809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:10889530|PMID:16103889|PMID:16171832|PMID:16199547|PMID:16212992|PMID:17576681|PMID:18614672|PMID:19590515|PMID:20427663|PMID:21112253|PMID:22495311|PMID:22514303|PMID:23436987|PMID:23979605|PMID:24613933|PMID:25313507|PMID:25331903|PMID:25741436|PMID:25741868|PMID:25747272|PMID:25774383|PMID:26931468|PMID:28263315|PMID:28492532|PMID:29559554|PMID:9536098 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11320258|PMID:11746736|PMID:16537431|PMID:19602552 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:9005659 Parkinsonism-Dystonia, Infantile, 1 ISO RGD:733809 D RGD:7240710 20190424 OMIM 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:9005659 Parkinsonism-Dystonia, Infantile, 1 ISO RGD:733809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile, 1 PMID:10889530|PMID:16103889|PMID:16171832|PMID:16199547|PMID:16212992|PMID:18614672|PMID:19478460|PMID:19590515|PMID:20427663|PMID:21112253|PMID:22279524|PMID:22495311|PMID:23979605|PMID:25313507|PMID:25331903|PMID:25741436|PMID:25741868|PMID:26931468|PMID:28492532|PMID:29559554 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20875051 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:9008023 Memory Disorders ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17992686 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:9970 obesity no_association ISO RGD:733809 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16674552|REF_RGD_ID:1625653 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:9970 obesity susceptibility ISO RGD:733809 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:12490667|REF_RGD_ID:1625655 12228863 SLC6A3 solute carrier family 6 member 3 gene DOID:9976 heroin dependence ISO RGD:3715 D RGD:9068941 20200609 RGD PMID:28598964|REF_RGD_ID:13506959 12228880 KAZALD1 Kazal type serine peptidase inhibitor domain 1 gene DOID:630 genetic disease ISO RGD:1321754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228893 CHPT1 choline phosphotransferase 1 gene DOID:0070176 spermatogenic failure 4 ISO RGD:1349185 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 4 PMID:28492532 12228893 CHPT1 choline phosphotransferase 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1349185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16292752 12228893 CHPT1 choline phosphotransferase 1 gene DOID:3343 glycoproteinosis ISO RGD:1349185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy PMID:16200072|PMID:16465621|PMID:16630736|PMID:19634183|PMID:25741868|PMID:27662472|PMID:28492532 12228893 CHPT1 choline phosphotransferase 1 gene DOID:630 genetic disease ISO RGD:1349185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228913 JMY junction mediating and regulatory protein, p53 cofactor gene DOID:630 genetic disease ISO RGD:1603907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228913 JMY junction mediating and regulatory protein, p53 cofactor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12228928 SCAMP3 secretory carrier membrane protein 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:68495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12228928 SCAMP3 secretory carrier membrane protein 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:68495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12228928 SCAMP3 secretory carrier membrane protein 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:68495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12228928 SCAMP3 secretory carrier membrane protein 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:68495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12228928 SCAMP3 secretory carrier membrane protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:68495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12228928 SCAMP3 secretory carrier membrane protein 3 gene DOID:5812 MHC class II deficiency ISO RGD:68495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12228928 SCAMP3 secretory carrier membrane protein 3 gene DOID:630 genetic disease ISO RGD:68495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228928 SCAMP3 secretory carrier membrane protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:68495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12228945 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:0050451 Brugada syndrome ISO RGD:731942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:17576681|PMID:20817017|PMID:21383000|PMID:22840528|PMID:23414114|PMID:25527503|PMID:25741868|PMID:26220970|PMID:26467025|PMID:26498160|PMID:28166811|PMID:28492532|PMID:9536098 12228945 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:0050451 Brugada syndrome ISO RGD:731942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:17576681|PMID:20817017|PMID:21383000|PMID:22840528|PMID:23414114|PMID:25527503|PMID:25640679|PMID:25741868|PMID:26220970|PMID:26467025|PMID:26498160|PMID:27711072|PMID:28166811|PMID:28492532|PMID:29247119|PMID:30821013|PMID:30847666|PMID:9536098 12228945 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:0050793 short QT syndrome ISO RGD:731942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short QT syndrome PMID:25741868|PMID:26467025|PMID:28492532 12228945 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:0050834 CHARGE syndrome ISO RGD:731942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 12228945 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:0060319 cardiac arrest ISO RGD:731942 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:20817017|PMID:21383000|PMID:22840528|PMID:25527503|PMID:25741868|PMID:28492532 12228945 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:10763 hypertension ISO RGD:731942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22949532 12228945 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:1826 epilepsy ISO RGD:731942 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 12228945 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:2843 long QT syndrome ISO RGD:731942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12228945 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:3459 breast carcinoma ISO RGD:731942 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Carcinoma of breast PMID:20817017|PMID:25527503|PMID:25741868|PMID:28492532 12228945 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12228945 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:5419 schizophrenia ISO RGD:731942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12228945 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:630 genetic disease ISO RGD:731942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12228945 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9000184 Ventricular Fibrillation ISO RGD:731942 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:20817017|PMID:25527503|PMID:25741868|PMID:28492532 12228945 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9000641 Pain ISO RGD:731942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17088553 12228945 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9002211 Hyperalgesia ISO RGD:731942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11245671|PMID:17881535|PMID:24133248 12228945 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:731942 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:17576681|PMID:20817017|PMID:21383000|PMID:22840528|PMID:23414114|PMID:25527503|PMID:25741868|PMID:26220970|PMID:26467025|PMID:26498160|PMID:27711072|PMID:28166811|PMID:28492532|PMID:29247119|PMID:30821013|PMID:30847666|PMID:9536098 12228945 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:731942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12228945 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12228945 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9005910 Developmental and Epileptic Encephalopathy 110 ISO RGD:731942 D RGD:7240710 20221214 OMIM 12228945 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9005910 Developmental and Epileptic Encephalopathy 110 ISO RGD:731942 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 110 PMID:35293990 12228945 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9005968 Neuralgia ISO RGD:731942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17442347|PMID:18400411|PMID:19339603|PMID:24133248 12228945 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9007614 Paroxysmal Atrial Fibrillation ISO RGD:731942 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Paroxysmal atrial fibrillation PMID:20817017|PMID:25527503|PMID:25741868|PMID:28492532 12228988 PUDP pseudouridine 5'-phosphatase gene DOID:12849 autistic disorder ISO RGD:1344399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12228988 PUDP pseudouridine 5'-phosphatase gene DOID:13938 amenorrhea ISO RGD:1344399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12228988 PUDP pseudouridine 5'-phosphatase gene DOID:1700 X-linked ichthyosis ISO RGD:1344399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recessive X-linked ichthyosis PMID:18413370|PMID:3007328|PMID:7208152 12228988 PUDP pseudouridine 5'-phosphatase gene DOID:1969 cerebral palsy ISO RGD:1344399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12228988 PUDP pseudouridine 5'-phosphatase gene DOID:5419 schizophrenia ISO RGD:1344399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12228988 PUDP pseudouridine 5'-phosphatase gene DOID:543 dystonia ISO RGD:1344399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12228988 PUDP pseudouridine 5'-phosphatase gene DOID:630 genetic disease ISO RGD:1344399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228988 PUDP pseudouridine 5'-phosphatase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12228997 LBH LBH regulator of WNT signaling pathway gene DOID:630 genetic disease ISO RGD:1604281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12228997 LBH LBH regulator of WNT signaling pathway gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12229004 FBXO47 F-box protein 47 gene DOID:630 genetic disease ISO RGD:1606618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229029 MIR144 microRNA mir-144 gene DOID:10591 pre-eclampsia ISO RGD:1350288 D RGD:9068941 20230128 RGD miRNA:decreased expression:blood serum (human) PMID:25017274|REF_RGD_ID:155882496 12229029 MIR144 microRNA mir-144 gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:1350288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 12229029 MIR144 microRNA mir-144 gene DOID:6000 congestive heart failure ISO RGD:1350288 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12229029 MIR144 microRNA mir-144 gene DOID:657 adenoma ISO RGD:1350288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 12229029 MIR144 microRNA mir-144 gene DOID:9000998 Brain Injuries ISO RGD:2325428 D RGD:9068941 20200609 RGD PMID:25089700|REF_RGD_ID:11576302 12229029 MIR144 microRNA mir-144 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12229064 LOC106557449 alveolar macrophage chemotactic factor-like gene DOID:0050127 sinusitis ISO RGD:1348297 D RGD:9068941 20200609 RGD associated with Rhinitis;mRNA:increased expression:paranasal sinus PMID:19153309|REF_RGD_ID:5135257 12229064 LOC106557449 alveolar macrophage chemotactic factor-like gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1348297 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-156G>C (human) PMID:20137269|REF_RGD_ID:5135241 12229064 LOC106557449 alveolar macrophage chemotactic factor-like gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1348297 D RGD:9068941 20200609 RGD protein:increased expression:lung, macrophage, type II pneumocyte PMID:11751193|REF_RGD_ID:5135250 12229064 LOC106557449 alveolar macrophage chemotactic factor-like gene DOID:10459 common cold ISO RGD:1348297 D RGD:9068941 20200609 RGD associated with Asthma PMID:12751040|REF_RGD_ID:5135264 12229064 LOC106557449 alveolar macrophage chemotactic factor-like gene DOID:11394 adult respiratory distress syndrome ISO RGD:1348297 D RGD:9068941 20200609 RGD PMID:8810593|REF_RGD_ID:4143190 12229064 LOC106557449 alveolar macrophage chemotactic factor-like gene DOID:1205 allergic disease ISO RGD:1348297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12229064 LOC106557449 alveolar macrophage chemotactic factor-like gene DOID:13406 pulmonary sarcoidosis disease_progression ISO RGD:1348297 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:17052298|REF_RGD_ID:5135244 12229064 LOC106557449 alveolar macrophage chemotactic factor-like gene DOID:1580 diffuse scleroderma ISO RGD:1348297 D RGD:9068941 20200609 RGD PMID:18432520|REF_RGD_ID:5135258 12229064 LOC106557449 alveolar macrophage chemotactic factor-like gene DOID:2797 idiopathic interstitial pneumonia ISO RGD:1348297 D RGD:9068941 20200609 RGD associated with Scleroderma, Diffuse PMID:18432520|REF_RGD_ID:5135258 12229064 LOC106557449 alveolar macrophage chemotactic factor-like gene DOID:2797 idiopathic interstitial pneumonia ISO RGD:1348297 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16085216|REF_RGD_ID:5135260 12229064 LOC106557449 alveolar macrophage chemotactic factor-like gene DOID:2841 asthma ISO RGD:1348297 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchus epithelium PMID:17234659|REF_RGD_ID:5135243 12229064 LOC106557449 alveolar macrophage chemotactic factor-like gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1348297 D RGD:9068941 20200609 RGD PMID:12857718|REF_RGD_ID:5135248 12229064 LOC106557449 alveolar macrophage chemotactic factor-like gene DOID:552 pneumonia ISO RGD:1348297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12229064 LOC106557449 alveolar macrophage chemotactic factor-like gene DOID:552 pneumonia ISO RGD:1348297 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:18410262|REF_RGD_ID:5135259 12229064 LOC106557449 alveolar macrophage chemotactic factor-like gene DOID:630 genetic disease ISO RGD:1348297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229064 LOC106557449 alveolar macrophage chemotactic factor-like gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1348297 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12229064 LOC106557449 alveolar macrophage chemotactic factor-like gene DOID:9002801 Recurrence ISO RGD:1348297 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22607768 12229064 LOC106557449 alveolar macrophage chemotactic factor-like gene DOID:9256 colorectal cancer ISO RGD:1348297 D RGD:9068941 20220721 RGD mRNA:increased expression:colon (human) PMID:33717244|REF_RGD_ID:152999433 12229064 LOC106557449 alveolar macrophage chemotactic factor-like gene DOID:9256 colorectal cancer disease_progression ISO RGD:1348297 D RGD:9068941 20200609 RGD PMID:18413816|REF_RGD_ID:5135268 12229064 LOC106557449 alveolar macrophage chemotactic factor-like gene DOID:9279 hyperhomocysteinemia ISO RGD:1348297 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11950713|REF_RGD_ID:5135249 12229093 PMM1 phosphomannomutase 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1322064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12229093 PMM1 phosphomannomutase 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1322064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 12229093 PMM1 phosphomannomutase 1 gene DOID:630 genetic disease ISO RGD:1322064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229104 ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif 6 gene DOID:5426 primary ovarian insufficiency ISO RGD:1317007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12229104 ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif 6 gene DOID:630 genetic disease ISO RGD:1317007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229104 ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12229143 PEG10 paternally expressed 10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12229143 PEG10 paternally expressed 10 gene DOID:630 genetic disease ISO RGD:1349907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229154 ATG13 autophagy related 13 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1602498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12229154 ATG13 autophagy related 13 gene DOID:10283 prostate cancer ISO RGD:1602498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12229154 ATG13 autophagy related 13 gene DOID:1059 intellectual disability ISO RGD:1602498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12229154 ATG13 autophagy related 13 gene DOID:630 genetic disease ISO RGD:1602498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229193 RALB RAS like proto-oncogene B gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:1351800 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:17174914|REF_RGD_ID:14394417 12229193 RALB RAS like proto-oncogene B gene DOID:630 genetic disease ISO RGD:1351800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229209 PAN3 poly(A) specific ribonuclease subunit PAN3 gene DOID:630 genetic disease ISO RGD:1603874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229241 GIGYF1 GRB10 interacting GYF protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1320542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12229241 GIGYF1 GRB10 interacting GYF protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12229241 GIGYF1 GRB10 interacting GYF protein 1 gene DOID:630 genetic disease ISO RGD:1320542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229241 GIGYF1 GRB10 interacting GYF protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320542 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33057194|PMID:34234147|PMID:34732801 12229290 PFN2 profilin 2 gene DOID:0050579 glycogen storage disease XV ISO RGD:734176 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12229290 PFN2 profilin 2 gene DOID:630 genetic disease ISO RGD:734176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229290 PFN2 profilin 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:734176 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 12229298 CLEC16A C-type lectin domain containing 16A gene DOID:0060025 immunoglobulin alpha deficiency ISO RGD:1604037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20694011|PMID:27723758 12229298 CLEC16A C-type lectin domain containing 16A gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1604037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 12229298 CLEC16A C-type lectin domain containing 16A gene DOID:12236 primary biliary cholangitis ISO RGD:1604037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 12229298 CLEC16A C-type lectin domain containing 16A gene DOID:1289 neurodegenerative disease ISO RGD:1314008 D RGD:9068941 20220825 MouseDO 12229298 CLEC16A C-type lectin domain containing 16A gene DOID:13774 Addison's disease ISO RGD:1604037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18593762 12229298 CLEC16A C-type lectin domain containing 16A gene DOID:13774 Addison's disease ISO RGD:1604037 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:rs12917716C PMID:18593762|REF_RGD_ID:5491177 12229298 CLEC16A C-type lectin domain containing 16A gene DOID:2377 multiple sclerosis ISO RGD:1604037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18946483|PMID:19525955 12229298 CLEC16A C-type lectin domain containing 16A gene DOID:2377 multiple sclerosis ISO RGD:1604037 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:g.194570G>A, rs7184083 PMID:21653641|REF_RGD_ID:5491175 12229298 CLEC16A C-type lectin domain containing 16A gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1604037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 12229298 CLEC16A C-type lectin domain containing 16A gene DOID:5812 MHC class II deficiency ISO RGD:1604037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12229298 CLEC16A C-type lectin domain containing 16A gene DOID:630 genetic disease ISO RGD:1604037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229298 CLEC16A C-type lectin domain containing 16A gene DOID:7148 rheumatoid arthritis ISO RGD:1604037 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:rs6498169G PMID:19221398|REF_RGD_ID:5491176 12229298 CLEC16A C-type lectin domain containing 16A gene DOID:9074 systemic lupus erythematosus ISO RGD:1604037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838195 12229298 CLEC16A C-type lectin domain containing 16A gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632545|PMID:18946483 12229298 CLEC16A C-type lectin domain containing 16A gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604037 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:rs2903692A PMID:19221398|REF_RGD_ID:5491176 12229298 CLEC16A C-type lectin domain containing 16A gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604037 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:rs725613 (human) PMID:18946483|REF_RGD_ID:2313978 12229414 ASB17 ankyrin repeat and SOCS box containing 17 gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:1343895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:28492532 12229414 ASB17 ankyrin repeat and SOCS box containing 17 gene DOID:630 genetic disease ISO RGD:1343895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229421 UCP2 uncoupling protein 2 gene DOID:0050770 polycystic liver disease ISO RGD:69171 D RGD:9068941 20220825 MouseDO OMIM:174050 12229421 UCP2 uncoupling protein 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:3932 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:18543254|REF_RGD_ID:7204434 12229421 UCP2 uncoupling protein 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69170 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:18308829|REF_RGD_ID:7204435 12229421 UCP2 uncoupling protein 2 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:3932 D RGD:9068941 20200609 RGD PMID:21359922|REF_RGD_ID:7175312 12229421 UCP2 uncoupling protein 2 gene DOID:0080600 COVID-19 ISO RGD:69170 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 12229421 UCP2 uncoupling protein 2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:69170 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12229421 UCP2 uncoupling protein 2 gene DOID:1059 intellectual disability ISO RGD:69170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12229421 UCP2 uncoupling protein 2 gene DOID:10763 hypertension ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16685210 12229421 UCP2 uncoupling protein 2 gene DOID:10763 hypertension ISO RGD:69170 D RGD:9068941 20200609 RGD PMID:15106800|REF_RGD_ID:1580794 12229421 UCP2 uncoupling protein 2 gene DOID:10763 hypertension treatment ISO RGD:3932 D RGD:9068941 20200609 RGD PMID:20404217|REF_RGD_ID:7175297 12229421 UCP2 uncoupling protein 2 gene DOID:12858 Huntington's disease ISO RGD:69170 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood (human) PMID:23029535|REF_RGD_ID:10045655 12229421 UCP2 uncoupling protein 2 gene DOID:13603 obstructive jaundice ISO RGD:3932 D RGD:9068941 20200609 RGD PMID:19632092|REF_RGD_ID:7204429 12229421 UCP2 uncoupling protein 2 gene DOID:1459 hypothyroidism ISO RGD:3932 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:21190599|REF_RGD_ID:7175296 12229421 UCP2 uncoupling protein 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:3932 D RGD:9068941 20200609 RGD PMID:19772611|REF_RGD_ID:7204428 12229421 UCP2 uncoupling protein 2 gene DOID:2316 brain ischemia ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17052689 12229421 UCP2 uncoupling protein 2 gene DOID:305 carcinoma ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12229421 UCP2 uncoupling protein 2 gene DOID:3407 carotid artery disease ISO RGD:69170 D RGD:9068941 20200609 RGD PMID:15604415|REF_RGD_ID:1580793 12229421 UCP2 uncoupling protein 2 gene DOID:6000 congestive heart failure ISO RGD:3932 D RGD:9068941 20200609 RGD PMID:20193183|REF_RGD_ID:7204426 12229421 UCP2 uncoupling protein 2 gene DOID:6000 congestive heart failure ISO RGD:3932 D RGD:9068941 20200609 RGD protein:decreased expression:heart, mitochondria PMID:20809120|REF_RGD_ID:7204424 12229421 UCP2 uncoupling protein 2 gene DOID:630 genetic disease ISO RGD:69170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12229421 UCP2 uncoupling protein 2 gene DOID:767 muscular atrophy ISO RGD:69171 D RGD:9068941 20200609 RGD mRNA:altered expression:quadriceps muscle (mouse) PMID:19462004|REF_RGD_ID:10045654 12229421 UCP2 uncoupling protein 2 gene DOID:783 end stage renal disease ISO RGD:69170 D RGD:9068941 20200609 RGD DNA:deletion PMID:18242170|REF_RGD_ID:7175299 12229421 UCP2 uncoupling protein 2 gene DOID:783 end stage renal disease susceptibility ISO RGD:69170 D RGD:9068941 20200609 RGD DNA:polymorphism: :-866G>A (human) PMID:19406964|REF_RGD_ID:7175298 12229421 UCP2 uncoupling protein 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12229421 UCP2 uncoupling protein 2 gene DOID:9000998 Brain Injuries ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12858170 12229421 UCP2 uncoupling protein 2 gene DOID:9000998 Brain Injuries ISO RGD:69170 D RGD:9068941 20200609 RGD PMID:12858170|REF_RGD_ID:7204436 12229421 UCP2 uncoupling protein 2 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:3932 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:22195248|REF_RGD_ID:7175309 12229421 UCP2 uncoupling protein 2 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:69171 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22848482|REF_RGD_ID:7175295 12229421 UCP2 uncoupling protein 2 gene DOID:9003936 Cardiomegaly ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25703824 12229421 UCP2 uncoupling protein 2 gene DOID:9004538 Hearing Loss ISO RGD:3932 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cochlea (rat) PMID:22543089|REF_RGD_ID:10045653 12229421 UCP2 uncoupling protein 2 gene DOID:9004590 Acute Liver Failure ISO RGD:3932 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:21272461|REF_RGD_ID:7175313 12229421 UCP2 uncoupling protein 2 gene DOID:9004786 Carbon Tetrachloride Poisoning ISO RGD:3932 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19104935|REF_RGD_ID:7204431 12229421 UCP2 uncoupling protein 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12229421 UCP2 uncoupling protein 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3932 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:19227473|REF_RGD_ID:2313501 12229421 UCP2 uncoupling protein 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563825|PMID:16123366 12229421 UCP2 uncoupling protein 2 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3932 D RGD:9068941 20200609 RGD PMID:17704287|REF_RGD_ID:2302404 12229421 UCP2 uncoupling protein 2 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:69170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hyperinsulinism PMID:25741868 12229421 UCP2 uncoupling protein 2 gene DOID:9007096 Stroke ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12858170 12229421 UCP2 uncoupling protein 2 gene DOID:9007096 Stroke ISO RGD:69170 D RGD:9068941 20200609 RGD PMID:12858170|REF_RGD_ID:7204436 12229421 UCP2 uncoupling protein 2 gene DOID:9007692 Insulin Resistance ISO RGD:69170 D RGD:9068941 20200609 RGD DNA:polymorphism, insertion:promoter:-866G>A (rs659366)(human) PMID:17870627|REF_RGD_ID:2313512 12229421 UCP2 uncoupling protein 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3932 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium PMID:19526854|REF_RGD_ID:2313528 12229421 UCP2 uncoupling protein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3932 D RGD:9068941 20200609 RGD PMID:18344121|REF_RGD_ID:7175300 12229421 UCP2 uncoupling protein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3932 D RGD:9068941 20200609 RGD associated with Obesity PMID:15356383|REF_RGD_ID:2313517 12229421 UCP2 uncoupling protein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15562023|PMID:16123366 12229421 UCP2 uncoupling protein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69171 D RGD:9068941 20200609 RGD PMID:11440717|REF_RGD_ID:737760 12229421 UCP2 uncoupling protein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69171 D RGD:9068941 20200609 RGD mRNA:increased expression:brown fat, white fat, skeletal muscle PMID:11587528|REF_RGD_ID:2313630 12229421 UCP2 uncoupling protein 2 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:69170 D RGD:9068941 20200609 RGD DNA:polymorphism:exon (human) PMID:10382588|REF_RGD_ID:2313525 12229421 UCP2 uncoupling protein 2 gene DOID:9452 fatty liver disease ISO RGD:3932 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:21114362|REF_RGD_ID:7204423 12229421 UCP2 uncoupling protein 2 gene DOID:9452 fatty liver disease ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10860543 12229421 UCP2 uncoupling protein 2 gene DOID:9743 diabetic neuropathy susceptibility ISO RGD:69170 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism:promoter:-866G>A (rs659366)(human) PMID:16373902|REF_RGD_ID:2313516 12229421 UCP2 uncoupling protein 2 gene DOID:9965 toxoplasmosis susceptibility ISO RGD:69171 D RGD:9068941 20200609 RGD PMID:11101840|REF_RGD_ID:737759 12229421 UCP2 uncoupling protein 2 gene DOID:9970 obesity ISO RGD:69170 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Body mass index quantitative trait locus 4 PMID:11381268|PMID:15562023|PMID:18414213|PMID:25741868|PMID:28492532 12229421 UCP2 uncoupling protein 2 gene DOID:9970 obesity susceptibility ISO RGD:69170 D RGD:7240710 20190502 OMIM 12229436 SRSF6 serine and arginine rich splicing factor 6 gene DOID:0070168 spermatogenic failure 3 susceptibility ISO RGD:1342668 D RGD:9068941 20200609 RGD DNA:snp:intron:g.IVS2+305T>C (rs6103330) (human) PMID:24661730|REF_RGD_ID:11039404 12229436 SRSF6 serine and arginine rich splicing factor 6 gene DOID:12858 Huntington's disease ISO RGD:1342668 D RGD:9068941 20200609 RGD protein:increased expression:striatum (human) PMID:25038828|REF_RGD_ID:11039484 12229436 SRSF6 serine and arginine rich splicing factor 6 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:1342668 D RGD:9068941 20200609 RGD DNA:snp:exon:p.P281P (rs2235611) (human) PMID:21309690|REF_RGD_ID:11039452 12229436 SRSF6 serine and arginine rich splicing factor 6 gene DOID:1324 lung cancer ISO RGD:1342668 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:23132731|REF_RGD_ID:11039482 12229436 SRSF6 serine and arginine rich splicing factor 6 gene DOID:2234 focal epilepsy ISO RGD:1342668 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12229436 SRSF6 serine and arginine rich splicing factor 6 gene DOID:234 colon adenocarcinoma ISO RGD:1342668 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon mucosa (human) PMID:9865741|REF_RGD_ID:11039405 12229436 SRSF6 serine and arginine rich splicing factor 6 gene DOID:4159 skin cancer ISO RGD:1342668 D RGD:9068941 20200609 RGD protein:increased expression:skin (human) PMID:24440982|REF_RGD_ID:11039481 12229436 SRSF6 serine and arginine rich splicing factor 6 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1342668 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney (human) PMID:21082031|REF_RGD_ID:11039407 12229436 SRSF6 serine and arginine rich splicing factor 6 gene DOID:630 genetic disease ISO RGD:1342668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229436 SRSF6 serine and arginine rich splicing factor 6 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1342668 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms;mRNA:increased expression:epithelium of female gonad (human) PMID:23748175|REF_RGD_ID:11039469 12229436 SRSF6 serine and arginine rich splicing factor 6 gene DOID:9006285 Epidermal Hyperplasia ISO RGD:1342668 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:24440982|REF_RGD_ID:11039481 12229450 TUSC3 tumor suppressor candidate 3 gene DOID:0081183 autosomal recessive intellectual developmental disorder 7 ISO RGD:1606831 D RGD:7240710 20180130 OMIM 12229450 TUSC3 tumor suppressor candidate 3 gene DOID:0081183 autosomal recessive intellectual developmental disorder 7 ISO RGD:1606831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER 22 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 22 PMID:17576681|PMID:18452889|PMID:18455129|PMID:21681106|PMID:21739581|PMID:23806237|PMID:25626710|PMID:25741868|PMID:27148795|PMID:28492532|PMID:28820871|PMID:9536098 12229450 TUSC3 tumor suppressor candidate 3 gene DOID:1059 intellectual disability ISO RGD:1606831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18455129|PMID:23806237|PMID:25626710|PMID:25741868|PMID:28492532|PMID:30167849 12229450 TUSC3 tumor suppressor candidate 3 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1606831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:18455129|PMID:23806237|PMID:25626710|PMID:25741868|PMID:28492532|PMID:28820871 12229450 TUSC3 tumor suppressor candidate 3 gene DOID:630 genetic disease ISO RGD:1606831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28820871 12229450 TUSC3 tumor suppressor candidate 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12229450 TUSC3 tumor suppressor candidate 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12229450 TUSC3 tumor suppressor candidate 3 gene DOID:9006534 Nervous System Malformations ISO RGD:1606831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:21739581|PMID:25741868 12229464 HNRNPF heterogeneous nuclear ribonucleoprotein F gene DOID:630 genetic disease ISO RGD:1349083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229464 HNRNPF heterogeneous nuclear ribonucleoprotein F gene DOID:9432 renal glycosuria ISO RGD:731709 D RGD:9068941 20220825 MouseDO OMIM:233100 12229486 CPQ carboxypeptidase Q gene DOID:4450 renal cell carcinoma ISO RGD:736012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 12229486 CPQ carboxypeptidase Q gene DOID:630 genetic disease ISO RGD:736012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229486 CPQ carboxypeptidase Q gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12229504 HARS1 histidyl-tRNA synthetase 1 gene DOID:0050439 Usher syndrome ISO RGD:1350214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome 12229504 HARS1 histidyl-tRNA synthetase 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1350214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:28492532|PMID:32333447 12229504 HARS1 histidyl-tRNA synthetase 1 gene DOID:0050952 spastic ataxia ISO RGD:1350214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532|PMID:32333447 12229504 HARS1 histidyl-tRNA synthetase 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1350214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12229504 HARS1 histidyl-tRNA synthetase 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12229504 HARS1 histidyl-tRNA synthetase 1 gene DOID:0110162 Charcot-Marie-Tooth disease, axonal type 2W ISO RGD:1350214 D RGD:7240710 20180130 OMIM 12229504 HARS1 histidyl-tRNA synthetase 1 gene DOID:0110162 Charcot-Marie-Tooth disease, axonal type 2W ISO RGD:1350214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2W | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2w PMID:22930593|PMID:25741868|PMID:26072516|PMID:26752306|PMID:27353947|PMID:28492532|PMID:29235198|PMID:29790872|PMID:32543048 12229504 HARS1 histidyl-tRNA synthetase 1 gene DOID:0110828 Usher syndrome type 3 ISO RGD:1350214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 3 PMID:28492532 12229504 HARS1 histidyl-tRNA synthetase 1 gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1350214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome 12229504 HARS1 histidyl-tRNA synthetase 1 gene DOID:0110842 Usher syndrome type 3B ISO RGD:1350214 D RGD:7240710 20180130 OMIM 12229504 HARS1 histidyl-tRNA synthetase 1 gene DOID:0110842 Usher syndrome type 3B ISO RGD:1350214 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Usher syndrome type 3B PMID:16199547|PMID:17576681|PMID:22279524|PMID:22279824|PMID:22930593|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26072516|PMID:26752306|PMID:27353947|PMID:28492532|PMID:28632987|PMID:29235198|PMID:29790872|PMID:31028937|PMID:31211171|PMID:32333447|PMID:32543048|PMID:9536098 12229504 HARS1 histidyl-tRNA synthetase 1 gene DOID:4450 renal cell carcinoma ISO RGD:1350214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 12229504 HARS1 histidyl-tRNA synthetase 1 gene DOID:574 peripheral nervous system disease ISO RGD:1350214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532|PMID:32333447 12229504 HARS1 histidyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1350214 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22279524|PMID:22279824|PMID:22930593|PMID:24033266|PMID:25741868|PMID:27353947|PMID:28492532|PMID:28632987|PMID:29235198|PMID:29790872|PMID:31028937|PMID:32543048 12229504 HARS1 histidyl-tRNA synthetase 1 gene DOID:8501 fundus dystrophy ISO RGD:1350214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 12229504 HARS1 histidyl-tRNA synthetase 1 gene DOID:870 neuropathy ISO RGD:1350214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532|PMID:32333447 12229504 HARS1 histidyl-tRNA synthetase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12229504 HARS1 histidyl-tRNA synthetase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12229504 HARS1 histidyl-tRNA synthetase 1 gene DOID:9008305 Talipes Cavus ISO RGD:1350214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pes cavus 12229527 CWC27 CWC27 spliceosome associated cyclophilin gene DOID:10584 retinitis pigmentosa ISO RGD:1321753 D RGD:9068941 20220825 MouseDO 12229527 CWC27 CWC27 spliceosome associated cyclophilin gene DOID:630 genetic disease ISO RGD:1321752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 12229527 CWC27 CWC27 spliceosome associated cyclophilin gene DOID:8501 fundus dystrophy ISO RGD:1321752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28285769|PMID:28492532 12229527 CWC27 CWC27 spliceosome associated cyclophilin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12229527 CWC27 CWC27 spliceosome associated cyclophilin gene DOID:9006431 Metaphyseal Chondrodysplasia with Retinitis Pigmentosa ISO RGD:1321752 D RGD:7240710 20190315 OMIM 12229527 CWC27 CWC27 spliceosome associated cyclophilin gene DOID:9006431 Metaphyseal Chondrodysplasia with Retinitis Pigmentosa ISO RGD:1321752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa with or without skeletal anomalies PMID:10420199|PMID:17576681|PMID:25741868|PMID:28285769|PMID:28492532|PMID:9536098 12229545 COQ10B coenzyme Q10B gene DOID:630 genetic disease ISO RGD:1604595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229545 COQ10B coenzyme Q10B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12229554 SLC12A4 solute carrier family 12 member 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:736767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12229554 SLC12A4 solute carrier family 12 member 4 gene DOID:1391 Norum disease ISO RGD:736767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency PMID:1571050|PMID:15994445|PMID:1662503|PMID:21875686|PMID:21901787|PMID:22189200|PMID:24636183|PMID:24715031|PMID:25727495|PMID:25741868|PMID:26195816|PMID:28492532|PMID:29030428|PMID:30333156|PMID:33816482|PMID:7613477|PMID:9541390|PMID:9741700 12229554 SLC12A4 solute carrier family 12 member 4 gene DOID:630 genetic disease ISO RGD:736767 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12229596 CNIH4 cornichon family AMPA receptor auxiliary protein 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1606011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12229596 CNIH4 cornichon family AMPA receptor auxiliary protein 4 gene DOID:630 genetic disease ISO RGD:1606011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229596 CNIH4 cornichon family AMPA receptor auxiliary protein 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12229603 GPATCH4 G-patch domain containing 4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12229603 GPATCH4 G-patch domain containing 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12229603 GPATCH4 G-patch domain containing 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12229603 GPATCH4 G-patch domain containing 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606544 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12229603 GPATCH4 G-patch domain containing 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1606544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12229603 GPATCH4 G-patch domain containing 4 gene DOID:5812 MHC class II deficiency ISO RGD:1606544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12229603 GPATCH4 G-patch domain containing 4 gene DOID:630 genetic disease ISO RGD:1606544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229603 GPATCH4 G-patch domain containing 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12229618 GALNT1 polypeptide N-acetylgalactosaminyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:736264 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12229618 GALNT1 polypeptide N-acetylgalactosaminyltransferase 1 gene DOID:4079 heart valve disease ISO RGD:733502 D RGD:9068941 20220825 MouseDO 12229618 GALNT1 polypeptide N-acetylgalactosaminyltransferase 1 gene DOID:630 genetic disease ISO RGD:736264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229638 EFS embryonal Fyn-associated substrate gene DOID:0060439 lysinuric protein intolerance ISO RGD:1319047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12229638 EFS embryonal Fyn-associated substrate gene DOID:630 genetic disease ISO RGD:1319047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229638 EFS embryonal Fyn-associated substrate gene DOID:8778 Crohn's disease ISO RGD:1319048 D RGD:9068941 20220825 MouseDO 12229638 EFS embryonal Fyn-associated substrate gene DOID:9000265 Specific Granule Deficiency ISO RGD:1319047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 12229638 EFS embryonal Fyn-associated substrate gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319047 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:0050328 congenital hypothyroidism ISO RGD:2645 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:23693027|REF_RGD_ID:10449124 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:0050454 periventricular nodular heterotopia ISO RGD:736474 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:0050476 Barth syndrome ISO RGD:736474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:0050800 creatine transporter deficiency ISO RGD:736474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:20211032|REF_RGD_ID:10449177 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:0080941 acquired angioedema ISO RGD:736474 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Susceptibility to angioedema induced by ACE inhibitors PMID:10782016|PMID:11445808|PMID:12064920|PMID:12497642|PMID:12768444|PMID:14278484|PMID:15315792|PMID:15502081|PMID:1551674|PMID:15727905|PMID:16119988|PMID:16143877|PMID:18046504|PMID:18226470|PMID:18568599|PMID:19594365|PMID:1972698|PMID:1978554|PMID:1978555|PMID:21507207|PMID:22018328|PMID:22452742|PMID:2253938|PMID:22552160|PMID:22770933|PMID:22906047|PMID:22906837|PMID:23006493|PMID:2321910|PMID:23479361|PMID:2393028|PMID:24134566|PMID:24460025|PMID:24586352|PMID:2503817|PMID:25326637|PMID:25541721|PMID:25741868|PMID:27519946|PMID:27853304|PMID:28492532|PMID:2912069|PMID:29300386|PMID:31863082|PMID:32425388|PMID:32860008|PMID:33072997|PMID:33636823|PMID:3393536|PMID:34966093|PMID:35840819|PMID:4974311|PMID:5305539|PMID:5369703|PMID:5641629|PMID:5673160|PMID:6698555|PMID:7203486|PMID:7390473|PMID:7577654|PMID:7590755|PMID:7959686|PMID:8370579|PMID:8447319|PMID:8611726|PMID:8860013|PMID:9017974|PMID:9233561|PMID:9250351|PMID:9342374 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:0081078 ectodermal dysplasia and immunodeficiency 1 ISO RGD:736474 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 PMID:25741868 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:736474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:0111936 immunodeficiency 14 ISO RGD:736474 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT PMID:10734064|PMID:11852882|PMID:1303173|PMID:16356170|PMID:17018380|PMID:18677765|PMID:1924316|PMID:21153663|PMID:21479984|PMID:21931771|PMID:23006493|PMID:23057857|PMID:23144702|PMID:24033266|PMID:24505519|PMID:25201310|PMID:2572288|PMID:25741868|PMID:27040960|PMID:2836867|PMID:28492532|PMID:28756180|PMID:29300386|PMID:30045279|PMID:32387609|PMID:33636823|PMID:3393536|PMID:34620237|PMID:4359638|PMID:5448|PMID:5641629|PMID:6015571|PMID:7959686|PMID:8860013 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:0112003 immunodeficiency 33 ISO RGD:736474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:0112105 X-linked parkinsonism-spasticity syndrome ISO RGD:736474 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: X-linked parkinsonism-spasticity syndrome PMID:10734064|PMID:11852882|PMID:1303173|PMID:16356170|PMID:17018380|PMID:18677765|PMID:1924316|PMID:21153663|PMID:21479984|PMID:21931771|PMID:23006493|PMID:23057857|PMID:23144702|PMID:24033266|PMID:24505519|PMID:25201310|PMID:2572288|PMID:25741868|PMID:27040960|PMID:2836867|PMID:28492532|PMID:28756180|PMID:29300386|PMID:30045279|PMID:32387609|PMID:33636823|PMID:3393536|PMID:34620237|PMID:4359638|PMID:5448|PMID:5641629|PMID:6015571|PMID:7959686|PMID:8860013 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:10588 adrenoleukodystrophy ISO RGD:736474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:11476 osteoporosis ISO RGD:736474 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 PMID:10734064|PMID:12367584|PMID:12737938|PMID:1303173|PMID:14014720|PMID:14278484|PMID:1631957|PMID:16356170|PMID:18452027|PMID:1978554|PMID:21479984|PMID:21931771|PMID:22307442|PMID:22963789|PMID:23006493|PMID:23144702|PMID:2321910|PMID:2503817|PMID:25071003|PMID:25201310|PMID:2572288|PMID:25741868|PMID:26633385|PMID:26990548|PMID:27287612|PMID:27535533|PMID:27853304|PMID:27884173|PMID:28195434|PMID:2836867|PMID:28492532|PMID:28852037|PMID:29072585|PMID:29141760|PMID:30161219|PMID:30314477|PMID:31525211|PMID:33636823|PMID:3393536|PMID:3446582|PMID:4359638|PMID:4388132|PMID:5448|PMID:6015571|PMID:7949118|PMID:8611726|PMID:8860013|PMID:8956035|PMID:9858856 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:736474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:12365 malaria ISO RGD:736474 D RGD:7240710 20230505 OMIM 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:12365 malaria ISO RGD:736474 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10734064|PMID:10782016|PMID:11445808|PMID:11499668|PMID:11793482|PMID:12028056|PMID:12064920|PMID:12367584|PMID:12497642|PMID:12737938|PMID:12768444|PMID:1303173|PMID:14278484|PMID:14505231|PMID:15223006|PMID:15315792|PMID:15349799|PMID:15502081|PMID:1551674|PMID:15625830|PMID:1562739|PMID:15766741|PMID:15906717|PMID:16119988|PMID:16136268|PMID:16155737|PMID:1631957|PMID:16356170|PMID:16528451|PMID:16777444|PMID:16927025|PMID:17726510|PMID:17959407|PMID:18046504|PMID:1805484|PMID:18329300|PMID:1924316|PMID:1953767|PMID:19589177|PMID:19594365|PMID:1972698|PMID:1978554|PMID:1978555|PMID:20007901|PMID:20236109|PMID:20602793|PMID:21446359|PMID:21479984|PMID:21677401|PMID:21931771|PMID:21989994|PMID:22018328|PMID:22165289|PMID:22293322|PMID:22307442|PMID:22906047|PMID:23144702|PMID:2321910|PMID:23479361|PMID:23926329|PMID:23965028|PMID:24033266|PMID:24460025|PMID:24551785|PMID:24586352|PMID:2503817|PMID:25201310|PMID:25326637|PMID:25548459|PMID:2572288|PMID:25741868|PMID:25775246|PMID:26060661|PMID:26226515|PMID:2633878|PMID:26633385|PMID:26990548|PMID:27053284|PMID:27213370|PMID:27287612|PMID:27535533|PMID:27853304|PMID:27880809|PMID:27884173|PMID:27980749|PMID:28195434|PMID:2836867|PMID:28492532|PMID:2849540|PMID:29072585|PMID:2912069|PMID:29141760|PMID:29339739|PMID:30161219|PMID:30315739|PMID:31525211|PMID:32860008|PMID:33051526|PMID:3338798|PMID:33413378|PMID:3393536|PMID:3446582|PMID:4359638|PMID:4388132|PMID:4435794|PMID:4837298|PMID:4974311|PMID:5305539|PMID:5369703|PMID:5448|PMID:5770172|PMID:6015571|PMID:6698555|PMID:7203486|PMID:7327562|PMID:7390473|PMID:7803800|PMID:7806085|PMID:7947239|PMID:7947250|PMID:7949118|PMID:8118045|PMID:8611726|PMID:8807321|PMID:8860013|PMID:8956035|PMID:9192788|PMID:9342374|PMID:9589612|PMID:9858856 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:12365 malaria ISO RGD:736474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10221015|PMID:10502785|PMID:10643148|PMID:10734064|PMID:10782016|PMID:11024211|PMID:11146567|PMID:11243133|PMID:11400791|PMID:11445808|PMID:11499668|PMID:11601226|PMID:11793482|PMID:12028056|PMID:12064920|PMID:12105841|PMID:12367584|PMID:12497642|PMID:12737938|PMID:12768444|PMID:1303173|PMID:14014720|PMID:14278484|PMID:14505231|PMID:1459579|PMID:15223006|PMID:15315792|PMID:15349799|PMID:15502081|PMID:1551674|PMID:15625830|PMID:1562739|PMID:15727905|PMID:15766741|PMID:15906717|PMID:16088936|PMID:16119988|PMID:16136268|PMID:16143877|PMID:16155737|PMID:1631957|PMID:16329560|PMID:16356170|PMID:16513531|PMID:16528451|PMID:16607506|PMID:16777444|PMID:16832|PMID:16927025|PMID:17587269|PMID:17726510|PMID:17959407|PMID:18046504|PMID:1805484|PMID:18226470|PMID:18270558|PMID:18329300|PMID:18452027|PMID:18568599|PMID:1924316|PMID:1945893|PMID:1953767|PMID:19589177|PMID:19594365|PMID:1972698|PMID:1978554|PMID:1978555|PMID:20007901|PMID:20200584|PMID:20203002|PMID:20236109|PMID:20602793|PMID:21446359|PMID:21479984|PMID:21507207|PMID:21637675|PMID:21677401|PMID:21874587|PMID:21931771|PMID:21989994|PMID:22018328|PMID:22164279|PMID:22165289|PMID:22171972|PMID:22293322|PMID:22307442|PMID:22452742|PMID:2253938|PMID:22552160|PMID:2263506|PMID:22770933|PMID:22906047|PMID:22906837|PMID:22963789|PMID:23006493|PMID:23144702|PMID:2321910|PMID:23479361|PMID:23926329|PMID:2393028|PMID:23965028|PMID:24033266|PMID:24134566|PMID:24460025|PMID:24551785|PMID:24586352|PMID:2503817|PMID:25071003|PMID:25201310|PMID:25326637|PMID:25440321|PMID:25536053|PMID:25541721|PMID:25548459|PMID:2572288|PMID:25741868|PMID:25775246|PMID:26060661|PMID:26226515|PMID:2633878|PMID:26633385|PMID:26823837|PMID:26990548|PMID:27053284|PMID:27213370|PMID:27287612|PMID:27519946|PMID:27535533|PMID:27853304|PMID:27880809|PMID:27884173|PMID:27980749|PMID:28195434|PMID:2836867|PMID:28492532|PMID:2849540|PMID:28852037|PMID:29072585|PMID:2912069|PMID:29141760|PMID:29300386|PMID:29339739|PMID:30045279|PMID:30077011|PMID:30096395|PMID:30161219|PMID:30314477|PMID:30315739|PMID:30674319|PMID:31489982|PMID:31525211|PMID:31862010|PMID:31863082|PMID:3198117|PMID:32180910|PMID:32425388|PMID:32860008|PMID:33051526|PMID:33072997|PMID:3338798|PMID:33413378|PMID:33636823|PMID:3393536|PMID:3446582|PMID:34620237|PMID:34659341|PMID:34762759|PMID:34895177|PMID:34934109|PMID:34966093|PMID:35313968|PMID:35840819|PMID:4283789|PMID:4359638|PMID:4379606|PMID:4388132|PMID:4392654|PMID:4435794|PMID:4721339|PMID:4837298|PMID:4974311|PMID:5081671|PMID:5305539|PMID:5369703|PMID:5448|PMID:5485383|PMID:5641629|PMID:5673160|PMID:5770172|PMID:5844610|PMID:6015571|PMID:6698555|PMID:6714986|PMID:7203486|PMID:7327562|PMID:7390473|PMID:7440223|PMID:7577654|PMID:7590755|PMID:7789945|PMID:7803800|PMID:7806085|PMID:7825590|PMID:7947239|PMID:7947250|PMID:7949118|PMID:7959686|PMID:8118045|PMID:8193373|PMID:8244337|PMID:8370579|PMID:8447319|PMID:8471773|PMID:8490627|PMID:8537082|PMID:8611726|PMID:8807321|PMID:8860013|PMID:8956035|PMID:9017974|PMID:9192788|PMID:9233561|PMID:9250351|PMID:9342374|PMID:9589612|PMID:9858856 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:12365 malaria severity ISO RGD:736474 D RGD:9068941 20200609 RGD DNA:point mutation:cds:c.968T>C (human) PMID:24615128|REF_RGD_ID:10449115 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:12365 malaria susceptibility ISO RGD:736474 D RGD:9068941 20230506 RGD DNA:SNPs: :multiple PMID:25015414|REF_RGD_ID:10449111 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:12849 autistic disorder ISO RGD:736474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:13413 hepatic encephalopathy ISO RGD:2645 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum PMID:20405262|REF_RGD_ID:10449131 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:13580 cholestasis ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:18802767|REF_RGD_ID:2307352 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:13628 favism ISO RGD:736474 D RGD:7240710 20180130 OMIM 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:13628 favism ISO RGD:736474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: FAVISM, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Favism, susceptibility to | ClinVar Annotator: match by term: G6PD A- | ClinVar Annotator: match by term: G6PD AURES | ClinVar Annotator: match by term: G6PD MALAGA | ClinVar Annotator: match by term: G6PD MINNESOTA | ClinVar Annotator: match by term: G6PD SANTIAGO | ClinVar Annotator: match by term: G6PD SANTIAGO DE CUBA | ClinVar Annotator: match by term: G6PD SERRES PMID:1008056|PMID:10192449|PMID:10221015|PMID:10502785|PMID:10556177|PMID:10571945|PMID:10627140|PMID:10643148|PMID:10666231|PMID:10734064|PMID:10772881|PMID:10782016|PMID:10916676|PMID:11024211|PMID:11042039|PMID:11112389|PMID:11146567|PMID:11243133|PMID:11261779|PMID:11271380|PMID:11295127|PMID:11400791|PMID:11445808|PMID:11484161|PMID:11499668|PMID:11594515|PMID:11601226|PMID:11780463|PMID:11793482|PMID:11852882|PMID:12028056|PMID:12064901|PMID:12064902|PMID:12064920|PMID:12105841|PMID:12130518|PMID:12187030|PMID:12215013|PMID:12367584|PMID:12497642|PMID:1270075|PMID:12737938|PMID:12737940|PMID:12768444|PMID:12850494|PMID:1303173|PMID:1303182|PMID:14014720|PMID:14278484|PMID:14505231|PMID:1459579|PMID:14757424|PMID:14757426|PMID:15065213|PMID:15223006|PMID:15315792|PMID:15349799|PMID:1536798|PMID:15466166|PMID:15502081|PMID:1551674|PMID:15625830|PMID:1562739|PMID:15727905|PMID:15766741|PMID:15858258|PMID:15906717|PMID:15914531|PMID:16079115|PMID:16088936|PMID:1611091|PMID:16119988|PMID:16136268|PMID:16143877|PMID:16155737|PMID:16193512|PMID:1631957|PMID:16329560|PMID:16356170|PMID:16461316|PMID:16513531|PMID:16528451|PMID:16607506|PMID:16753852|PMID:16777444|PMID:16832|PMID:16927025|PMID:16934959|PMID:16944148|PMID:17018380|PMID:17233850|PMID:17524386|PMID:17576681|PMID:17587269|PMID:17611006|PMID:17726510|PMID:17877203|PMID:17959407|PMID:18043863|PMID:18046504|PMID:1805484|PMID:18056001|PMID:18066402|PMID:18086567|PMID:18177777|PMID:18226470|PMID:18270558|PMID:18329300|PMID:18452027|PMID:18568599|PMID:18677765|PMID:1879833|PMID:18985093|PMID:1924316|PMID:19422023|PMID:1945893|PMID:19465117|PMID:1953767|PMID:19589177|PMID:19594365|PMID:19632868|PMID:1972698|PMID:1978554|PMID:1978555|PMID:1999339|PMID:1999409|PMID:20007901|PMID:20052779|PMID:20085579|PMID:20200584|PMID:20203002|PMID:20236109|PMID:20582980|PMID:20602793|PMID:20621077|PMID:20713184|PMID:20949590|PMID:21063220|PMID:21153663|PMID:21302115|PMID:21397531|PMID:21441392|PMID:21446359|PMID:21479984|PMID:21507207|PMID:2157298|PMID:21637675|PMID:21677401|PMID:21874587|PMID:2190319|PMID:21931771|PMID:21989994|PMID:22018328|PMID:22139979|PMID:22164279|PMID:22165289|PMID:22171972|PMID:2222408|PMID:22237549|PMID:22293322|PMID:22307442|PMID:22452742|PMID:2253938|PMID:22552160|PMID:2255919|PMID:2263506|PMID:22770933|PMID:22906047|PMID:22906837|PMID:22963789|PMID:22963798|PMID:23006493|PMID:23057857|PMID:2307454|PMID:23144702|PMID:2321910|PMID:23365477|PMID:23389243|PMID:23479361|PMID:23757202|PMID:23926329|PMID:2393028|PMID:23965028|PMID:24022758|PMID:24033266|PMID:24117340|PMID:24134566|PMID:24460025|PMID:24505519|PMID:24551785|PMID:24586352|PMID:24711023|PMID:24787449|PMID:2503817|PMID:25071003|PMID:25141282|PMID:25189226|PMID:25201310|PMID:25326637|PMID:25407525|PMID:25440321|PMID:25536053|PMID:25541721|PMID:25548459|PMID:2572288|PMID:25741868|PMID:25775246|PMID:25925739|PMID:2602358|PMID:2606066|PMID:26060661|PMID:26226515|PMID:26275698|PMID:2633878|PMID:26479991|PMID:26633385|PMID:26693676|PMID:26823837|PMID:26827633|PMID:26829728|PMID:26990548|PMID:27040960|PMID:27053284|PMID:27213370|PMID:27287612|PMID:27408423|PMID:27495838|PMID:27519946|PMID:27535533|PMID:27853304|PMID:27880809|PMID:27884173|PMID:27914961|PMID:27980749|PMID:28028996|PMID:28059001|PMID:28195434|PMID:28356147|PMID:2836867|PMID:28492532|PMID:2849540|PMID:28583873|PMID:28756180|PMID:28852037|PMID:2895981|PMID:29072585|PMID:2912069|PMID:2912886|PMID:29141760|PMID:29248304|PMID:29300386|PMID:29333274|PMID:29339739|PMID:29396846|PMID:30045279|PMID:30077011|PMID:30096395|PMID:30097005|PMID:30161219|PMID:30314477|PMID:30315739|PMID:30674319|PMID:31294066|PMID:31489982|PMID:31525211|PMID:31590661|PMID:31609781|PMID:31862010|PMID:31863082|PMID:3198117|PMID:3201886|PMID:32180910|PMID:32387441|PMID:32387609|PMID:32425388|PMID:32680472|PMID:32702756|PMID:32860008|PMID:32987391|PMID:33051526|PMID:33069889|PMID:33072997|PMID:3338798|PMID:33413378|PMID:33636823|PMID:3393536|PMID:34007417|PMID:3446582|PMID:34620237 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:13628 favism ISO RGD:736474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: FAVISM, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Favism, susceptibility to | ClinVar Annotator: match by term: G6PD A- | ClinVar Annotator: match by term: G6PD AURES | ClinVar Annotator: match by term: G6PD MALAGA | ClinVar Annotator: match by term: G6PD MINNESOTA | ClinVar Annotator: match by term: G6PD SANTIAGO | ClinVar Annotator: match by term: G6PD SANTIAGO DE CUBA | ClinVar Annotator: match by term: G6PD SERRES PMID:34643346|PMID:34659341|PMID:34762759|PMID:34895177|PMID:34934109|PMID:34966093|PMID:34989400|PMID:35313968|PMID:3565372|PMID:35695473|PMID:35840819|PMID:3591235|PMID:3740052|PMID:4154774|PMID:4283789|PMID:4359638|PMID:4379606|PMID:4388132|PMID:4392654|PMID:4435794|PMID:4721339|PMID:4837298|PMID:4838696|PMID:4974311|PMID:5081671|PMID:511159|PMID:5305539|PMID:5316621|PMID:5369703|PMID:5413384|PMID:5448|PMID:5485383|PMID:5641629|PMID:5673160|PMID:5770172|PMID:5775246|PMID:5779160|PMID:5844610|PMID:6015571|PMID:6344088|PMID:6500558|PMID:6698555|PMID:6714978|PMID:6714986|PMID:7055648|PMID:7129446|PMID:7160841|PMID:7203486|PMID:7327562|PMID:736032|PMID:7390473|PMID:7440223|PMID:7577654|PMID:7590755|PMID:7655862|PMID:7789945|PMID:7803800|PMID:7806085|PMID:7825590|PMID:7849299|PMID:7858267|PMID:7870632|PMID:7947239|PMID:7947250|PMID:7949118|PMID:7959686|PMID:7959695|PMID:8118045|PMID:8141125|PMID:8193373|PMID:8241497|PMID:8244337|PMID:835572|PMID:8364584|PMID:8370579|PMID:8436389|PMID:8447319|PMID:8471773|PMID:8477268|PMID:848857|PMID:8490627|PMID:853376|PMID:8533762|PMID:8537082|PMID:8611726|PMID:8807085|PMID:8807321|PMID:8807322|PMID:8813094|PMID:8860013|PMID:8956035|PMID:9017974|PMID:9192788|PMID:9233561|PMID:9250351|PMID:9290617|PMID:9298828|PMID:9299858|PMID:9332310|PMID:9342374|PMID:9410474|PMID:9444913|PMID:9536098|PMID:9589612|PMID:9674740|PMID:9858856 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:14067 Plasmodium falciparum malaria severity ISO RGD:736474 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:202G>A (p.V68M) (human) PMID:24943486|REF_RGD_ID:10449113 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:1591 renovascular hypertension treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:22684021|REF_RGD_ID:10449172 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:224 transient cerebral ischemia ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:22580330|REF_RGD_ID:10449127 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:2355 anemia ISO RGD:736474 D RGD:9068941 20200609 RGD PMID:25940869|REF_RGD_ID:10449105 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:2355 anemia ISO RGD:736474 D RGD:9068941 20200609 RGD associated with Malaria, Falciparum;DNA:SNPs: :rs1050828, rs1050829 (human) PMID:24934404|REF_RGD_ID:10449114 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:2355 anemia treatment ISO RGD:736474 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:25261071|REF_RGD_ID:10449108 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:2383 neonatal jaundice ISO RGD:736474 D RGD:9068941 20200609 RGD DNA:point mutation: :563C>T (human) PMID:24460025|REF_RGD_ID:10449116 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:2729 dyskeratosis congenita ISO RGD:736474 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:2773 contact dermatitis ISO RGD:736474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:736474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10666231|PMID:4125296 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:736474 D RGD:9068941 20200609 RGD DNA:point mutations: :1376G>T, 1502T>G (human) PMID:24923766|REF_RGD_ID:10449107 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:736474 D RGD:9068941 20200609 RGD DNA:point mutations:exon:637G>T, 1178G>A, 1089C>A (human) PMID:1999409|REF_RGD_ID:1599812 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:736474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: G6PD WALTER REED | ClinVar Annotator: match by term: G6PD deficiency | ClinVar Annotator: match by term: Glucose 6 phosphate dehydrogenase deficiency | ClinVar Annotator: match by term: Glucose-6-phosphate dehydrogenase deficiency | ClinVar Annotator: match by term: Hemolytic anemia due to G6PD deficiency PMID:10192449|PMID:10221015|PMID:10502785|PMID:10571945|PMID:10643148|PMID:10666231|PMID:10734064|PMID:10782016|PMID:10916676|PMID:11024211|PMID:11042039|PMID:11112389|PMID:11146567|PMID:11243133|PMID:11400791|PMID:11445808|PMID:11499668|PMID:11601226|PMID:11793482|PMID:11852882|PMID:12028056|PMID:12064920|PMID:12105841|PMID:12187030|PMID:12215013|PMID:12367584|PMID:12497642|PMID:12737938|PMID:12768444|PMID:1303173|PMID:1303182|PMID:14014720|PMID:14278484|PMID:14505231|PMID:1459579|PMID:15223006|PMID:15315792|PMID:15349799|PMID:1536798|PMID:15466166|PMID:15502081|PMID:1551674|PMID:15625830|PMID:1562739|PMID:15727905|PMID:15766741|PMID:15906717|PMID:15914531|PMID:16088936|PMID:1611091|PMID:16119988|PMID:16136268|PMID:16143877|PMID:16155737|PMID:16193512|PMID:1631957|PMID:16329560|PMID:16356170|PMID:16461316|PMID:16513531|PMID:16528451|PMID:16607506|PMID:16777444|PMID:16832|PMID:16927025|PMID:16934959|PMID:17018380|PMID:17233850|PMID:17524386|PMID:17576681|PMID:17587269|PMID:17726510|PMID:17959407|PMID:18043863|PMID:18046504|PMID:1805484|PMID:18056001|PMID:18177777|PMID:18226470|PMID:18270558|PMID:18329300|PMID:18452027|PMID:18568599|PMID:18677765|PMID:18985093|PMID:1924316|PMID:1945893|PMID:19465117|PMID:1953767|PMID:19589177|PMID:19594365|PMID:1972698|PMID:1978554|PMID:1978555|PMID:1999339|PMID:1999409|PMID:20007901|PMID:20200584|PMID:20203002|PMID:20236109|PMID:20582980|PMID:20602793|PMID:20621077|PMID:20949590|PMID:21153663|PMID:21302115|PMID:21441392|PMID:21446359|PMID:21479984|PMID:21507207|PMID:2157298|PMID:21637675|PMID:21677401|PMID:21874587|PMID:2190319|PMID:21931771|PMID:21989994|PMID:22018328|PMID:22164279|PMID:22165289|PMID:22171972|PMID:2222408|PMID:22237549|PMID:22293322|PMID:22307442|PMID:22452742|PMID:2253938|PMID:22552160|PMID:2255919|PMID:2263506|PMID:22770933|PMID:22906047|PMID:22906837|PMID:22963789|PMID:22963798|PMID:23006493|PMID:23057857|PMID:2307454|PMID:23144702|PMID:2321910|PMID:23365477|PMID:23389243|PMID:23479361|PMID:23757202|PMID:23926329|PMID:2393028|PMID:23965028|PMID:24033266|PMID:24117340|PMID:24134566|PMID:24460025|PMID:24505519|PMID:24551785|PMID:24586352|PMID:2503817|PMID:25071003|PMID:25141282|PMID:25201310|PMID:25326637|PMID:25407525|PMID:25440321|PMID:25536053|PMID:25541721|PMID:25548459|PMID:2572288|PMID:25741868|PMID:25775246|PMID:2602358|PMID:26060661|PMID:26226515|PMID:2633878|PMID:26633385|PMID:26823837|PMID:26829728|PMID:26990548|PMID:27040960|PMID:27053284|PMID:27213370|PMID:27287612|PMID:27519946|PMID:27535533|PMID:27853304|PMID:27880809|PMID:27884173|PMID:27980749|PMID:28028996|PMID:28059001|PMID:28195434|PMID:2836867|PMID:28492532|PMID:2849540|PMID:28583873|PMID:28756180|PMID:28852037|PMID:2895981|PMID:29072585|PMID:2912069|PMID:29141760|PMID:29248304|PMID:29300386|PMID:29333274|PMID:29339739|PMID:30045279|PMID:30077011|PMID:30096395|PMID:30097005|PMID:30161219|PMID:30314477|PMID:30315739|PMID:30674319|PMID:31294066|PMID:31489982|PMID:31525211|PMID:31590661|PMID:31609781|PMID:31862010|PMID:31863082|PMID:3198117|PMID:3201886|PMID:32180910|PMID:32387609|PMID:32425388|PMID:32680472|PMID:32702756|PMID:32860008|PMID:33051526|PMID:33069889|PMID:33072997|PMID:3338798|PMID:33413378|PMID:33636823|PMID:3393536|PMID:3446582|PMID:34620237|PMID:34643346|PMID:34659341|PMID:34762759|PMID:34895177|PMID:34934109|PMID:34966093|PMID:35313968|PMID:35840819|PMID:3740052|PMID:4154774|PMID:4283789|PMID:4359638|PMID:4379606|PMID:4388132|PMID:4392654|PMID:4435794|PMID:4721339|PMID:472761|PMID:4837298|PMID:4974311|PMID:5081671|PMID:5305539|PMID:5369703|PMID:5413384|PMID:5448|PMID:5485383|PMID:5641629|PMID:5673160|PMID:5770172|PMID:5844610|PMID:6015571|PMID:6344088|PMID:6698555|PMID:6714978|PMID:6714986|PMID:7055648|PMID:7129446|PMID:7160841|PMID:7203486|PMID:7327562|PMID:736032|PMID:7390473|PMID:7440223|PMID:7577654|PMID:7590755|PMID:7789945|PMID:7803800|PMID:7806085|PMID:7825590|PMID:7858267|PMID:7947239|PMID:7947250|PMID:7949118|PMID:7959686|PMID:8118045|PMID:8193373|PMID:8244337|PMID:8364584 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:736474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: G6PD WALTER REED | ClinVar Annotator: match by term: G6PD deficiency | ClinVar Annotator: match by term: Glucose 6 phosphate dehydrogenase deficiency | ClinVar Annotator: match by term: Glucose-6-phosphate dehydrogenase deficiency | ClinVar Annotator: match by term: Hemolytic anemia due to G6PD deficiency PMID:8370579|PMID:8447319|PMID:8471773|PMID:848857|PMID:8490627|PMID:853376|PMID:8533762|PMID:8537082|PMID:8611726|PMID:8807321|PMID:8807322|PMID:8860013|PMID:8956035|PMID:9017974|PMID:9192788|PMID:9233561|PMID:9250351|PMID:9299858|PMID:9342374|PMID:9410474|PMID:9536098|PMID:9589612|PMID:9674740|PMID:9858856 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:3021 acute kidney failure ISO RGD:736474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4794122|PMID:602954|PMID:734759 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:3262 phagocyte bactericidal dysfunction ISO RGD:736474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4125296 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:3265 chronic granulomatous disease ISO RGD:736474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4125296 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:557 kidney disease treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:22549094|REF_RGD_ID:10449175 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:583 hemolytic anemia ISO RGD:736474 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:12064901|PMID:25741868|PMID:29300386 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:5844 myocardial infarction treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:20462747|REF_RGD_ID:10449173 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:589 congenital hemolytic anemia ISO RGD:736474 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868|PMID:29300386|PMID:5316621 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:607 paraplegia ISO RGD:736474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:630 genetic disease ISO RGD:736474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10502785|PMID:10734064|PMID:10772881|PMID:10782016|PMID:11261779|PMID:11445808|PMID:11499668|PMID:11601226|PMID:11793482|PMID:11852882|PMID:12028056|PMID:12064920|PMID:12367584|PMID:12497642|PMID:1270075|PMID:12737938|PMID:12768444|PMID:1303173|PMID:14014720|PMID:14278484|PMID:14505231|PMID:1459579|PMID:15223006|PMID:15315792|PMID:15502081|PMID:1551674|PMID:15625830|PMID:15727905|PMID:15766741|PMID:15858258|PMID:15906717|PMID:16119988|PMID:16136268|PMID:16143877|PMID:16155737|PMID:1631957|PMID:16329560|PMID:16356170|PMID:16513531|PMID:16528451|PMID:16607506|PMID:16777444|PMID:16927025|PMID:17018380|PMID:17726510|PMID:18046504|PMID:1805484|PMID:18226470|PMID:18329300|PMID:18452027|PMID:18568599|PMID:18677765|PMID:1924316|PMID:1945893|PMID:1953767|PMID:19589177|PMID:19594365|PMID:1972698|PMID:1978554|PMID:1978555|PMID:1999409|PMID:20200584|PMID:20236109|PMID:20602793|PMID:21153663|PMID:21446359|PMID:21479984|PMID:21507207|PMID:21677401|PMID:21931771|PMID:22018328|PMID:22164279|PMID:22293322|PMID:22307442|PMID:22452742|PMID:2253938|PMID:22552160|PMID:22770933|PMID:22906047|PMID:22906837|PMID:22963789|PMID:23006493|PMID:23057857|PMID:23144702|PMID:2321910|PMID:23479361|PMID:2393028|PMID:23965028|PMID:24033266|PMID:24134566|PMID:24460025|PMID:24505519|PMID:24551785|PMID:24586352|PMID:2503817|PMID:25071003|PMID:25201310|PMID:25326637|PMID:25536053|PMID:25541721|PMID:25548459|PMID:2572288|PMID:25741868|PMID:25775246|PMID:26060661|PMID:26226515|PMID:2633878|PMID:26633385|PMID:26990548|PMID:27040960|PMID:27053284|PMID:27213370|PMID:27287612|PMID:27408423|PMID:27519946|PMID:27535533|PMID:27853304|PMID:27884173|PMID:27980749|PMID:28195434|PMID:2836867|PMID:28492532|PMID:2849540|PMID:28756180|PMID:28852037|PMID:29072585|PMID:2912069|PMID:29141760|PMID:29300386|PMID:29339739|PMID:30045279|PMID:30161219|PMID:30314477|PMID:30315739|PMID:31489982|PMID:31525211|PMID:31862010|PMID:31863082|PMID:3198117|PMID:32180910|PMID:32387609|PMID:32425388|PMID:32860008|PMID:33051526|PMID:33072997|PMID:3338798|PMID:33413378|PMID:33636823|PMID:3393536|PMID:3446582|PMID:34620237|PMID:34659341|PMID:34762759|PMID:34895177|PMID:34934109|PMID:34966093|PMID:35313968|PMID:35840819|PMID:4359638|PMID:4388132|PMID:4721339|PMID:4837298|PMID:4974311|PMID:5305539|PMID:5369703|PMID:5448|PMID:5641629|PMID:5673160|PMID:6015571|PMID:6698555|PMID:7203486|PMID:7327562|PMID:7390473|PMID:7577654|PMID:7590755|PMID:7803800|PMID:7949118|PMID:7959686|PMID:8193373|PMID:8244337|PMID:8370579|PMID:8447319|PMID:8471773|PMID:8611726|PMID:8860013|PMID:8956035|PMID:9017974|PMID:9192788|PMID:9233561|PMID:9250351|PMID:9342374|PMID:9589612|PMID:9858856 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:6713 cerebrovascular disease ISO RGD:736474 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell PMID:26072930|REF_RGD_ID:10449106 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:684 hepatocellular carcinoma ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:25473368|REF_RGD_ID:10449118 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736474 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:83 cataract treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:24886740|REF_RGD_ID:10449123 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:9000808 Hypercholesterolemia treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:21966115|REF_RGD_ID:10449170 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:9000972 Fever ISO RGD:736474 D RGD:9068941 20200609 RGD associated with Malaria, Falciparum;DNA:SNP: :rs1050829 (human) PMID:24934404|REF_RGD_ID:10449114 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:9000998 Brain Injuries ISO RGD:2645 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:18501200|REF_RGD_ID:2307353 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2645 D RGD:9068941 20200609 RGD associated with Hypertension PMID:21987533|REF_RGD_ID:10449128 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:9002532 Neonatal Hyperbilirubinemia ISO RGD:736474 D RGD:9068941 20200609 RGD protein:decreased activity:blood PMID:25092943|REF_RGD_ID:10449110 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:9002720 Splenomegaly ISO RGD:736474 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:9003603 Hemolysis ISO RGD:736474 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: G6PD GIFU PMID:10502785|PMID:10643148|PMID:11024211|PMID:11499668|PMID:11793482|PMID:12497642|PMID:1562739|PMID:15727905|PMID:16329560|PMID:16607506|PMID:16832|PMID:17587269|PMID:17726510|PMID:20203002|PMID:21446359|PMID:21874587|PMID:22164279|PMID:22171972|PMID:2263506|PMID:22963789|PMID:25440321|PMID:25541721|PMID:25741868|PMID:25775246|PMID:26823837|PMID:28492532|PMID:29300386|PMID:30045279|PMID:31489982|PMID:31862010|PMID:31863082|PMID:33636823|PMID:35840819|PMID:4283789|PMID:4379606|PMID:4435794|PMID:4721339|PMID:5485383|PMID:6714986|PMID:7440223|PMID:7590755|PMID:7803800|PMID:8244337|PMID:8471773|PMID:8537082|PMID:9589612 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:9004009 Reperfusion Injury ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:17250641|REF_RGD_ID:2307361 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:9005181 Multi-Infarct Dementia treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:21279683|REF_RGD_ID:10449132 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2645 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:19374864|REF_RGD_ID:2307337 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2645 D RGD:9068941 20200609 RGD protein:increased expression:lens PMID:16718375|REF_RGD_ID:2307345 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:25116122|REF_RGD_ID:10449121 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:25063801|REF_RGD_ID:10449119 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:9006411 Testicular Injury treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:25446862|REF_RGD_ID:10401887 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:9006599 Hypertriglyceridemia treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:22947172|REF_RGD_ID:10449176 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:9006646 Metabolic Syndrome ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:19374165|REF_RGD_ID:2307350 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:24868532|REF_RGD_ID:10449117 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:9006693 ALAD-Deficiency Porphyria ISO RGD:2645 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:23390166|REF_RGD_ID:10449130 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:21864513|REF_RGD_ID:10449168 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:9007692 Insulin Resistance ISO RGD:2645 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased expression:pancreas PMID:23015612|REF_RGD_ID:10449129 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:9008691 Liver Injury treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:20950607|REF_RGD_ID:10449174 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:9279 hyperhomocysteinemia ISO RGD:2645 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:21717134|REF_RGD_ID:10449171 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:9281 phenylketonuria ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:24488205|REF_RGD_ID:10449120 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:9351 diabetes mellitus ISO RGD:736474 D RGD:9068941 20200609 RGD protein:decreased activity:blood PMID:24865682|REF_RGD_ID:10449112 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:9352 type 2 diabetes mellitus ISO RGD:736474 D RGD:9068941 20200609 RGD protein:decreased expression:reticulocyte, erythrocyte PMID:12853069|REF_RGD_ID:2307349 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:9744 type 1 diabetes mellitus ISO RGD:736474 D RGD:9068941 20200609 RGD protein:decreased expression:erythrocyte PMID:15914531|REF_RGD_ID:2307348 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:9970 obesity ISO RGD:10608 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:white fat PMID:15923630|REF_RGD_ID:2307347 12229654 G6PD glucose-6-phosphate dehydrogenase gene DOID:9970 obesity ISO RGD:2645 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:liver PMID:19230846|REF_RGD_ID:2307340 12229674 NOTCH4 notch receptor 4 gene DOID:0050553 JMP syndrome ISO RGD:1354309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12229674 NOTCH4 notch receptor 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1354309 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12229674 NOTCH4 notch receptor 4 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1354309 D RGD:9068941 20200609 RGD PMID:17440163|REF_RGD_ID:2299156 12229674 NOTCH4 notch receptor 4 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1354309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868|PMID:27231971 12229674 NOTCH4 notch receptor 4 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1354309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459|PMID:28492532 12229674 NOTCH4 notch receptor 4 gene DOID:10487 Hirschsprung's disease ISO RGD:1354309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 12229674 NOTCH4 notch receptor 4 gene DOID:1307 dementia ISO RGD:1354309 D RGD:9068941 20200609 RGD PMID:21297263|REF_RGD_ID:6480775 12229674 NOTCH4 notch receptor 4 gene DOID:1380 endometrial cancer ISO RGD:1354309 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium PMID:11078798|REF_RGD_ID:2299153 12229674 NOTCH4 notch receptor 4 gene DOID:1749 squamous cell carcinoma ISO RGD:1354309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 12229674 NOTCH4 notch receptor 4 gene DOID:2349 arteriosclerosis ISO RGD:1354309 D RGD:9068941 20200609 RGD PMID:18802018|REF_RGD_ID:6480862 12229674 NOTCH4 notch receptor 4 gene DOID:2377 multiple sclerosis ISO RGD:1354309 D RGD:9068941 20200609 RGD DNA: snps: cds: rs422951 PMID:21654846|REF_RGD_ID:6480692 12229674 NOTCH4 notch receptor 4 gene DOID:264 hemangiopericytoma ISO RGD:1354309 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:anterior temporal lobe PMID:26951238|REF_RGD_ID:155663351 12229674 NOTCH4 notch receptor 4 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1354309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 12229674 NOTCH4 notch receptor 4 gene DOID:418 systemic scleroderma ISO RGD:1354309 D RGD:9068941 20200609 RGD DNA: SNPs: non-coding :multiple PMID:21779181|REF_RGD_ID:6480691 12229674 NOTCH4 notch receptor 4 gene DOID:5241 hemangioblastoma ISO RGD:1354309 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:temporal lobe : PMID:27388534|REF_RGD_ID:155641257 12229674 NOTCH4 notch receptor 4 gene DOID:5419 schizophrenia ISO RGD:1354309 D RGD:9068941 20200609 RGD DNA: SNP: intron: rs520692 PMID:16894623|REF_RGD_ID:6480689 12229674 NOTCH4 notch receptor 4 gene DOID:5419 schizophrenia no_association ISO RGD:1354309 D RGD:9068941 20200609 RGD DNA: SNPs: :five SNPs in a Japanese population PMID:15211628|REF_RGD_ID:6480690 12229674 NOTCH4 notch receptor 4 gene DOID:5419 schizophrenia susceptibility ISO RGD:1354309 D RGD:9068941 20200609 RGD DNA:snps, haplotype:5' utr:g.-1725T>G, g.-25T>C (human) PMID:14732589|REF_RGD_ID:1358753 12229674 NOTCH4 notch receptor 4 gene DOID:630 genetic disease ISO RGD:1354309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229674 NOTCH4 notch receptor 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1354309 D RGD:9068941 20200609 RGD mRNA : increased expression: : cd4+ cells PMID:20132067|REF_RGD_ID:6480790 12229674 NOTCH4 notch receptor 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1553588 D RGD:9068941 20200609 RGD DNA, mRNA:mutation, alternative form PMID:8030284|REF_RGD_ID:2299155 12229674 NOTCH4 notch receptor 4 gene DOID:9004464 Skin Neoplasms ISO RGD:1354309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 12229674 NOTCH4 notch receptor 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1354309 D RGD:9068941 20200609 RGD PMID:15531924|REF_RGD_ID:2299154 12229674 NOTCH4 notch receptor 4 gene DOID:9008782 AIDS-Associated Nephropathy ISO RGD:1303282 D RGD:9068941 20200609 RGD protein: increased expression: kidney PMID:20706108|REF_RGD_ID:6480788 12229674 NOTCH4 notch receptor 4 gene DOID:9008782 AIDS-Associated Nephropathy ISO RGD:1354309 D RGD:9068941 20200609 RGD protein: increased expression: kidney PMID:20706108|REF_RGD_ID:6480788 12229674 NOTCH4 notch receptor 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1354309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696|PMID:21679465 12229674 NOTCH4 notch receptor 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1354309 D RGD:9068941 20200609 RGD DNA: SNP: 5' utr: rs2395106 PMID:19143814|REF_RGD_ID:6480791 12229674 NOTCH4 notch receptor 4 gene DOID:986 alopecia areata ISO RGD:1354309 D RGD:9068941 20200609 RGD PMID:12589427|REF_RGD_ID:6480681 12229705 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:0050700 cardiomyopathy ISO RGD:731052 D RGD:9068941 20200609 RGD PMID:21220706|REF_RGD_ID:10400890 12229705 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:0060778 congenital diarrhea 7 with exudative enteropathy ISO RGD:731052 D RGD:7240710 20190904 OMIM 12229705 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:0060778 congenital diarrhea 7 with exudative enteropathy ISO RGD:731052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital diarrhea 7 with exudative enteropathy PMID:16199547|PMID:23114594|PMID:25326635|PMID:25741868|PMID:26883093|PMID:28373485|PMID:28492532|PMID:29604290|PMID:30237576|PMID:31778854|PMID:33607125 12229705 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:0070223 progressive familial intrahepatic cholestasis 3 ISO RGD:731052 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis PMID:25741868|PMID:28492532 12229705 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:731052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12229705 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12229705 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:1184 nephrotic syndrome ISO RGD:628673 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:15200432|REF_RGD_ID:10400845 12229705 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:13250 diarrhea ISO RGD:731052 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12229705 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:4621 holoprosencephaly ISO RGD:731052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12229705 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:5082 liver cirrhosis treatment ISO RGD:731053 D RGD:9068941 20200609 RGD associated with Non-alcoholic Fatty Liver Disease; PMID:18000880|REF_RGD_ID:10400849 12229705 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:630 genetic disease ISO RGD:731052 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23114594|PMID:25326635|PMID:25741868|PMID:26883093|PMID:28492532 12229705 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:784 chronic kidney disease ISO RGD:628673 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:23045433|REF_RGD_ID:10400847 12229705 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:9006599 Hypertriglyceridemia treatment ISO RGD:731053 D RGD:9068941 20200609 RGD PMID:18183944|REF_RGD_ID:10401058 12229705 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:731053 D RGD:9068941 20200609 RGD PMID:21990351|REF_RGD_ID:10401057 12229705 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:9008550 Vitamin A Deficiency ISO RGD:628673 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:17047345|REF_RGD_ID:13782261 12229705 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:9970 obesity ISO RGD:731053 D RGD:9068941 20200609 RGD PMID:10802663|REF_RGD_ID:734536 12229705 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:9970 obesity no_association ISO RGD:731052 D RGD:9068941 20200609 RGD DNA:polymorphism:C97T PMID:14569040|REF_RGD_ID:1625597 12229705 DGAT1 diacylglycerol O-acyltransferase 1 gene DOID:9970 obesity treatment ISO RGD:731053 D RGD:9068941 20200609 RGD PMID:18183944|REF_RGD_ID:10401058 12229726 GGA3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 gene DOID:0080392 nephrotic syndrome type 17 ISO RGD:1319955 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 17 PMID:25741868|PMID:28492532|PMID:30179222 12229726 GGA3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 gene DOID:0111497 combined oxidative phosphorylation deficiency 34 ISO RGD:1319955 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 34 PMID:25741868|PMID:28492532 12229726 GGA3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 gene DOID:630 genetic disease ISO RGD:1319955 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12229765 CADPS calcium dependent secretion activator gene DOID:10283 prostate cancer ISO RGD:1344966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12229765 CADPS calcium dependent secretion activator gene DOID:630 genetic disease ISO RGD:1344966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229802 SGTA small glutamine rich tetratricopeptide repeat co-chaperone alpha gene DOID:630 genetic disease ISO RGD:735887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229802 SGTA small glutamine rich tetratricopeptide repeat co-chaperone alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12229833 MKKS MKKS centrosomal shuttling protein gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1318801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 12229833 MKKS MKKS centrosomal shuttling protein gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1318801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of PMID:12837689 12229833 MKKS MKKS centrosomal shuttling protein gene DOID:0110128 Bardet-Biedl syndrome 6 ISO RGD:1318801 D RGD:7240710 20180130 OMIM 12229833 MKKS MKKS centrosomal shuttling protein gene DOID:0110128 Bardet-Biedl syndrome 6 ISO RGD:1318801 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 6 PMID:10802661|PMID:10973238|PMID:10973251|PMID:11179009|PMID:11567139|PMID:12107442|PMID:12920096|PMID:15637713|PMID:15731008|PMID:17576681|PMID:18094050|PMID:20080638|PMID:20177705|PMID:20226561|PMID:20472660|PMID:20498079|PMID:21209035|PMID:22446187|PMID:22500027|PMID:25741868|PMID:25982971|PMID:26900326|PMID:27491411|PMID:28492532|PMID:28761321|PMID:29127258|PMID:9536098 12229833 MKKS MKKS centrosomal shuttling protein gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1318801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 12229833 MKKS MKKS centrosomal shuttling protein gene DOID:0111255 McKusick-Kaufman syndrome ISO RGD:1318801 D RGD:7240710 20180130 OMIM 12229833 MKKS MKKS centrosomal shuttling protein gene DOID:0111255 McKusick-Kaufman syndrome ISO RGD:1318801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: McKusick-Kaufman syndrome PMID:10802661|PMID:10973251|PMID:11179009|PMID:11567139|PMID:12107442|PMID:12920096|PMID:15666242|PMID:18094050|PMID:20080638|PMID:20142850|PMID:20177705|PMID:20226561|PMID:20472660|PMID:20498079|PMID:21209035|PMID:22446187|PMID:22500027|PMID:24400638|PMID:25741868|PMID:25982971|PMID:26900326|PMID:27491411|PMID:28492532|PMID:28761321|PMID:29127258|PMID:30614526|PMID:33520300 12229833 MKKS MKKS centrosomal shuttling protein gene DOID:12712 nephronophthisis ISO RGD:1318801 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:10802661|PMID:10973251|PMID:11567139|PMID:18094050|PMID:20177705|PMID:20226561|PMID:20498079|PMID:21209035|PMID:25741868|PMID:25982971|PMID:28492532 12229833 MKKS MKKS centrosomal shuttling protein gene DOID:1682 congenital heart disease ISO RGD:1318801 D RGD:9068941 20200609 RGD PMID:12107442|REF_RGD_ID:1582516 12229833 MKKS MKKS centrosomal shuttling protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1318801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:10802661|PMID:10973238|PMID:10973251|PMID:11179009|PMID:11567139|PMID:12107442|PMID:12920096|PMID:15637713|PMID:15731008|PMID:15770229|PMID:16104012|PMID:17576681|PMID:18094050|PMID:20080638|PMID:20142850|PMID:20177705|PMID:20226561|PMID:20472660|PMID:20498079|PMID:20502701|PMID:21209035|PMID:22353939|PMID:22446187|PMID:22500027|PMID:24400638|PMID:25741868|PMID:25982971|PMID:26355662|PMID:26900326|PMID:27491411|PMID:28492532|PMID:28624958|PMID:28753627|PMID:28761321|PMID:2896767|PMID:29127258|PMID:30614526|PMID:30718709|PMID:33138063|PMID:33520300|PMID:9536098 12229833 MKKS MKKS centrosomal shuttling protein gene DOID:630 genetic disease ISO RGD:1318801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10802661|PMID:10973251|PMID:11567139|PMID:15637713|PMID:15666242|PMID:17576681|PMID:18094050|PMID:20177705|PMID:20226561|PMID:20498079|PMID:21209035|PMID:22446187|PMID:25741868|PMID:25982971|PMID:28492532|PMID:9536098 12229833 MKKS MKKS centrosomal shuttling protein gene DOID:8501 fundus dystrophy ISO RGD:1318801 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10802661|PMID:10973251|PMID:11567139|PMID:18094050|PMID:20177705|PMID:20226561|PMID:20498079|PMID:21209035|PMID:25741868|PMID:25982971|PMID:28492532 12229833 MKKS MKKS centrosomal shuttling protein gene DOID:9000726 Bardet-Biedl Syndrome 2/6, Digenic ISO RGD:1318801 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bardet-biedl syndrome 2/6, digenic PMID:10802661|PMID:10973251|PMID:11567139|PMID:18094050|PMID:20177705|PMID:20226561|PMID:20498079|PMID:21209035|PMID:22446187|PMID:25741868|PMID:25982971|PMID:28492532 12229833 MKKS MKKS centrosomal shuttling protein gene DOID:9245 Alagille syndrome ISO RGD:1318801 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:10213047|PMID:16575836|PMID:19058200|PMID:22382802|PMID:28492532|PMID:32733715 12229833 MKKS MKKS centrosomal shuttling protein gene DOID:9970 obesity ISO RGD:1318801 D RGD:9068941 20200609 RGD PMID:10973251|REF_RGD_ID:1581208 12229833 MKKS MKKS centrosomal shuttling protein gene DOID:9970 obesity ISO RGD:1318801 D RGD:9068941 20200609 RGD protein:substitution:A242S possible contribution PMID:15483080|REF_RGD_ID:1601414 12229833 MKKS MKKS centrosomal shuttling protein gene DOID:9970 obesity ISO RGD:1318802 D RGD:9068941 20220825 MouseDO OMIM:601665 12229833 MKKS MKKS centrosomal shuttling protein gene DOID:9970 obesity no_association ISO RGD:1318801 D RGD:9068941 20200609 RGD unlikely to play a major role in the pathogenesis of nonsyndromic obesity PMID:15483080|REF_RGD_ID:1601414 12229855 ZNF341 zinc finger protein 341 gene DOID:0080595 hyper IgE recurrent infection syndrome 3 ISO RGD:1346802 D RGD:7240710 20190315 OMIM 12229855 ZNF341 zinc finger protein 341 gene DOID:0080595 hyper IgE recurrent infection syndrome 3 ISO RGD:1346802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 3, autosomal recessive PMID:25741868|PMID:28492532|PMID:29907690|PMID:29907691 12229855 ZNF341 zinc finger protein 341 gene DOID:2843 long QT syndrome ISO RGD:1346802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555|PMID:28492532 12229855 ZNF341 zinc finger protein 341 gene DOID:630 genetic disease ISO RGD:1346802 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12229877 FZD3 frizzled class receptor 3 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:732935 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12229877 FZD3 frizzled class receptor 3 gene DOID:0070338 cerebellar hypoplasia ISO RGD:732935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 12229877 FZD3 frizzled class receptor 3 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:732935 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12229877 FZD3 frizzled class receptor 3 gene DOID:1928 Williams-Beuren syndrome ISO RGD:732935 D RGD:9068941 20200609 RGD maps to 2 Mb in chromosome band 7q11.23 deleted in WS PMID:9147651|REF_RGD_ID:1582654 12229877 FZD3 frizzled class receptor 3 gene DOID:5419 schizophrenia ISO RGD:732935 D RGD:9068941 20200609 RGD IVS3+258T>C polymorphism and/or IVS3+258T−435G haplotype in a Japanese population PMID:14642436|REF_RGD_ID:1582649 12229877 FZD3 frizzled class receptor 3 gene DOID:5419 schizophrenia ISO RGD:732935 D RGD:9068941 20200609 RGD SNPs rs2323019 or rs880481 and/or three-locus haplotype ATG or GCG for SNPs rs2323019-rs352203-rs880481; Chinese Han population PMID:15274031|REF_RGD_ID:1582650 12229877 FZD3 frizzled class receptor 3 gene DOID:5419 schizophrenia no_association ISO RGD:732935 D RGD:9068941 20200609 RGD SNPs rs960914, rs2241802, rs2323019 and rs352203; Japanese population PMID:15657645|REF_RGD_ID:1582651 12229877 FZD3 frizzled class receptor 3 gene DOID:630 genetic disease ISO RGD:732935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229877 FZD3 frizzled class receptor 3 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:732935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:31474318 12229877 FZD3 frizzled class receptor 3 gene DOID:9256 colorectal cancer ISO RGD:732935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 12229891 TMEM41A transmembrane protein 41A gene DOID:0111546 Currarino syndrome ISO RGD:1352042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12229891 TMEM41A transmembrane protein 41A gene DOID:630 genetic disease ISO RGD:1352042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229903 ZNF496 zinc finger protein 496 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1312150 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12229903 ZNF496 zinc finger protein 496 gene DOID:1540 parathyroid carcinoma ISO RGD:1312150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12229903 ZNF496 zinc finger protein 496 gene DOID:630 genetic disease ISO RGD:1312150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229903 ZNF496 zinc finger protein 496 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12229920 FGF16 fibroblast growth factor 16 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12229920 FGF16 fibroblast growth factor 16 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:733065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12229920 FGF16 fibroblast growth factor 16 gene DOID:0111813 syndactyly type 8 ISO RGD:733065 D RGD:7240710 20180130 OMIM 12229920 FGF16 fibroblast growth factor 16 gene DOID:0111813 syndactyly type 8 ISO RGD:733065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndactyly type 8 PMID:23709756|PMID:24878828 12229920 FGF16 fibroblast growth factor 16 gene DOID:12849 autistic disorder ISO RGD:733065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12229927 GPR119 G protein-coupled receptor 119 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12229927 GPR119 G protein-coupled receptor 119 gene DOID:12849 autistic disorder ISO RGD:736973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12229927 GPR119 G protein-coupled receptor 119 gene DOID:630 genetic disease ISO RGD:736973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229934 FBXO16 F-box protein 16 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1312847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12229934 FBXO16 F-box protein 16 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1312847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12229934 FBXO16 F-box protein 16 gene DOID:630 genetic disease ISO RGD:1312847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229969 PRM3 protamine 3 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1345034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 12229969 PRM3 protamine 3 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1345034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 12229969 PRM3 protamine 3 gene DOID:5812 MHC class II deficiency ISO RGD:1345034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12229969 PRM3 protamine 3 gene DOID:630 genetic disease ISO RGD:1345034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229974 BCL3 BCL3 transcription coactivator gene DOID:1936 atherosclerosis ISO RGD:1314971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25374339 12229974 BCL3 BCL3 transcription coactivator gene DOID:630 genetic disease ISO RGD:1314971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12229974 BCL3 BCL3 transcription coactivator gene DOID:649 prion disease severity ISO RGD:1314972 D RGD:9068941 20201218 RGD PMID:17573907|REF_RGD_ID:40902830 12229974 BCL3 BCL3 transcription coactivator gene DOID:9003370 Dyslipidemias ISO RGD:1314971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29670124 12229983 AMACR alpha-methylacyl-CoA racemase gene DOID:0050632 oculocutaneous albinism ISO RGD:735888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:25741868|PMID:28492532 12229983 AMACR alpha-methylacyl-CoA racemase gene DOID:0050952 spastic ataxia ISO RGD:735888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 12229983 AMACR alpha-methylacyl-CoA racemase gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:735888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:20818383|PMID:25741868|PMID:28492532 12229983 AMACR alpha-methylacyl-CoA racemase gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:735888 D RGD:7240710 20180130 OMIM 12229983 AMACR alpha-methylacyl-CoA racemase gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:735888 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:10655068|PMID:12438241|PMID:12512044|PMID:15249642|PMID:16199547|PMID:17576681|PMID:18032455|PMID:20558530|PMID:20818383|PMID:20821052|PMID:21576695|PMID:21686617|PMID:23286897|PMID:25133958|PMID:25741868|PMID:28492532|PMID:30369941|PMID:34440436|PMID:9536098 12229983 AMACR alpha-methylacyl-CoA racemase gene DOID:0111068 congenital bile acid synthesis defect 4 ISO RGD:735888 D RGD:7240710 20180130 OMIM 12229983 AMACR alpha-methylacyl-CoA racemase gene DOID:0111068 congenital bile acid synthesis defect 4 ISO RGD:735888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 PMID:10655068|PMID:12512044|PMID:15249642|PMID:18032455|PMID:20818383|PMID:20821052|PMID:21576695|PMID:21686617|PMID:25741868|PMID:28492532|PMID:30369941|PMID:9584266 12229983 AMACR alpha-methylacyl-CoA racemase gene DOID:11054 urinary bladder cancer severity ISO RGD:735888 D RGD:9068941 20200609 RGD PMID:18648853|REF_RGD_ID:2315629 12229983 AMACR alpha-methylacyl-CoA racemase gene DOID:1826 epilepsy ISO RGD:735888 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12229983 AMACR alpha-methylacyl-CoA racemase gene DOID:2477 motor peripheral neuropathy ISO RGD:735888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10655068 12229983 AMACR alpha-methylacyl-CoA racemase gene DOID:3459 breast carcinoma severity ISO RGD:735888 D RGD:9068941 20200609 RGD PMID:15941950|REF_RGD_ID:2315635 12229983 AMACR alpha-methylacyl-CoA racemase gene DOID:409 liver disease ISO RGD:735888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12512044 12229983 AMACR alpha-methylacyl-CoA racemase gene DOID:4450 renal cell carcinoma ISO RGD:735888 D RGD:9068941 20200609 RGD PMID:14707866|REF_RGD_ID:2315633 12229983 AMACR alpha-methylacyl-CoA racemase gene DOID:630 genetic disease ISO RGD:735888 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12229983 AMACR alpha-methylacyl-CoA racemase gene DOID:657 adenoma ISO RGD:735888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17684125 12229983 AMACR alpha-methylacyl-CoA racemase gene DOID:8634 prostate carcinoma in situ disease_progression ISO RGD:735888 D RGD:9068941 20200609 RGD PMID:18343427|REF_RGD_ID:2315630 12229983 AMACR alpha-methylacyl-CoA racemase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 12229983 AMACR alpha-methylacyl-CoA racemase gene DOID:9002304 Prostatic Neoplasms ISO RGD:735888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17173048|PMID:22919386|PMID:24763052 12229983 AMACR alpha-methylacyl-CoA racemase gene DOID:9002304 Prostatic Neoplasms ISO RGD:735888 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:20003233|REF_RGD_ID:2315628 12229983 AMACR alpha-methylacyl-CoA racemase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12229983 AMACR alpha-methylacyl-CoA racemase gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:735888 D RGD:9068941 20200609 RGD PMID:16315020|REF_RGD_ID:2315632 12229983 AMACR alpha-methylacyl-CoA racemase gene DOID:9008443 Colorectal Neoplasms ISO RGD:735888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17684125 12229993 TRIM27 tripartite motif containing 27 gene DOID:11372 megacolon ISO RGD:1320820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12229993 TRIM27 tripartite motif containing 27 gene DOID:630 genetic disease ISO RGD:1320820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230005 SOX4 SRY-box transcription factor 4 gene DOID:0060058 lymphoma ISO RGD:1319855 D RGD:9068941 20200609 RGD PMID:15231650|REF_RGD_ID:1581305 12230005 SOX4 SRY-box transcription factor 4 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1319854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12230005 SOX4 SRY-box transcription factor 4 gene DOID:0112371 Coffin-Siris syndrome 10 ISO RGD:1319854 D RGD:7240710 20190731 OMIM 12230005 SOX4 SRY-box transcription factor 4 gene DOID:0112371 Coffin-Siris syndrome 10 ISO RGD:1319854 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 10 PMID:25741868|PMID:30661772|PMID:35232796 12230005 SOX4 SRY-box transcription factor 4 gene DOID:1059 intellectual disability ISO RGD:1319854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild PMID:30661772 12230005 SOX4 SRY-box transcription factor 4 gene DOID:11054 urinary bladder cancer ISO RGD:1319854 D RGD:9068941 20200609 RGD PMID:16585165|REF_RGD_ID:1581304 12230005 SOX4 SRY-box transcription factor 4 gene DOID:114 heart disease ISO RGD:1319855 D RGD:9068941 20200609 RGD PMID:9815146|REF_RGD_ID:1581306 12230005 SOX4 SRY-box transcription factor 4 gene DOID:1923 disorder of sexual development ISO RGD:1319854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 12230005 SOX4 SRY-box transcription factor 4 gene DOID:3459 breast carcinoma ISO RGD:1319854 D RGD:9068941 20220728 RGD protein:increased expression:breast PMID:29882245|REF_RGD_ID:153297792 12230005 SOX4 SRY-box transcription factor 4 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1319854 D RGD:9068941 20220728 RGD PMID:16052521|REF_RGD_ID:153297793 12230005 SOX4 SRY-box transcription factor 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1319854 D RGD:9068941 20220728 RGD protein:increased expression:lung PMID:29882245|REF_RGD_ID:153297792 12230005 SOX4 SRY-box transcription factor 4 gene DOID:6000 congestive heart failure ISO RGD:1319854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12230005 SOX4 SRY-box transcription factor 4 gene DOID:630 genetic disease ISO RGD:1319854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230005 SOX4 SRY-box transcription factor 4 gene DOID:9001041 Asphyxia ISO RGD:1309488 D RGD:9068941 20200609 RGD PMID:12011571|REF_RGD_ID:1581119 12230005 SOX4 SRY-box transcription factor 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12230005 SOX4 SRY-box transcription factor 4 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1319854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147764 12230005 SOX4 SRY-box transcription factor 4 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1319854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12230005 SOX4 SRY-box transcription factor 4 gene DOID:9003936 Cardiomegaly ISO RGD:1319854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12230005 SOX4 SRY-box transcription factor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12230012 EXO1 exonuclease 1 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1319820 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12230012 EXO1 exonuclease 1 gene DOID:0080600 COVID-19 ISO RGD:1319820 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12230012 EXO1 exonuclease 1 gene DOID:0111261 fumarase deficiency ISO RGD:1319820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12761039|PMID:21398687|PMID:22069215|PMID:28300276|PMID:28492532 12230012 EXO1 exonuclease 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1319820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12230012 EXO1 exonuclease 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12230012 EXO1 exonuclease 1 gene DOID:630 genetic disease ISO RGD:1319820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230012 EXO1 exonuclease 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1319820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12230012 EXO1 exonuclease 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12230012 EXO1 exonuclease 1 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1319820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 12230012 EXO1 exonuclease 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17656264 12230012 EXO1 exonuclease 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1319820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25751625 12230012 EXO1 exonuclease 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12230040 CRAMP1 cramped chromatin regulator homolog 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1323669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 12230040 CRAMP1 cramped chromatin regulator homolog 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1323669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12230040 CRAMP1 cramped chromatin regulator homolog 1 gene DOID:1826 epilepsy ISO RGD:1323669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12230040 CRAMP1 cramped chromatin regulator homolog 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1323669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12230040 CRAMP1 cramped chromatin regulator homolog 1 gene DOID:630 genetic disease ISO RGD:1323669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230067 MIR33B microRNA mir-33b gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1603136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 12230067 MIR33B microRNA mir-33b gene DOID:0050777 Joubert syndrome ISO RGD:1603136 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12230067 MIR33B microRNA mir-33b gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1603136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis syndrome PMID:25087610 12230067 MIR33B microRNA mir-33b gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1603136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12230067 MIR33B microRNA mir-33b gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1603136 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12230067 MIR33B microRNA mir-33b gene DOID:11054 urinary bladder cancer ISO RGD:1603136 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 12230067 MIR33B microRNA mir-33b gene DOID:12849 autistic disorder ISO RGD:1603136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12230067 MIR33B microRNA mir-33b gene DOID:2671 transitional cell carcinoma ISO RGD:1603136 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 12230067 MIR33B microRNA mir-33b gene DOID:9000918 Disease Progression ISO RGD:1603136 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 12230067 MIR33B microRNA mir-33b gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603136 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12230067 MIR33B microRNA mir-33b gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603136 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12230070 MIR19B-2 microRNA mir-19b-2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12230070 MIR19B-2 microRNA mir-19b-2 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:1347760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency PMID:11018746|PMID:15571220|PMID:17027311|PMID:22157001|PMID:23975452|PMID:28492532|PMID:6087154 12230070 MIR19B-2 microRNA mir-19b-2 gene DOID:12849 autistic disorder ISO RGD:1347760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12230130 RAB11A RAB11A, member RAS oncogene family gene DOID:0070297 primary microcephaly ISO RGD:1343833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:25741868 12230130 RAB11A RAB11A, member RAS oncogene family gene DOID:0110935 nemaline myopathy 6 ISO RGD:1343833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12230130 RAB11A RAB11A, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1343833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild PMID:25741868 12230130 RAB11A RAB11A, member RAS oncogene family gene DOID:10907 microcephaly ISO RGD:1343833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital microcephaly PMID:25741868 12230130 RAB11A RAB11A, member RAS oncogene family gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1343833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12230130 RAB11A RAB11A, member RAS oncogene family gene DOID:2717 Bloom syndrome ISO RGD:1343833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12230130 RAB11A RAB11A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1343833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12230130 RAB11A RAB11A, member RAS oncogene family gene DOID:9001341 Chloracne ISO RGD:1343833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12230130 RAB11A RAB11A, member RAS oncogene family gene DOID:9256 colorectal cancer ISO RGD:1343833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12230139 PTHLH parathyroid hormone like hormone gene DOID:0080011 bone resorption disease ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16769263 12230139 PTHLH parathyroid hormone like hormone gene DOID:0080053 Albright's hereditary osteodystrophy ISO RGD:11188 D RGD:9068941 20220825 MouseDO OMIM:103580 12230139 PTHLH parathyroid hormone like hormone gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25035110 12230139 PTHLH parathyroid hormone like hormone gene DOID:0110976 brachydactyly type E2 ISO RGD:736996 D RGD:7240710 20180130 OMIM 12230139 PTHLH parathyroid hormone like hormone gene DOID:0110976 brachydactyly type E2 ISO RGD:736996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly type E2 PMID:20170896|PMID:25741868|PMID:25801215|PMID:26763883|PMID:29947179|PMID:31283647 12230139 PTHLH parathyroid hormone like hormone gene DOID:12678 hypercalcemia ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10638776|PMID:11054717|PMID:12358896|PMID:3616618 12230139 PTHLH parathyroid hormone like hormone gene DOID:169 neuroendocrine tumor ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17625444 12230139 PTHLH parathyroid hormone like hormone gene DOID:1793 pancreatic cancer ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17625444 12230139 PTHLH parathyroid hormone like hormone gene DOID:3908 lung non-small cell carcinoma ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17676588 12230139 PTHLH parathyroid hormone like hormone gene DOID:4480 achondroplasia ISO RGD:11188 D RGD:9068941 20220825 MouseDO OMIM:100800 12230139 PTHLH parathyroid hormone like hormone gene DOID:4988 alcoholic pancreatitis ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22280800 12230139 PTHLH parathyroid hormone like hormone gene DOID:630 genetic disease ISO RGD:736996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20170896|PMID:24028571|PMID:25801215|PMID:26640227|PMID:26733284|PMID:26763883|PMID:28211986|PMID:28492532 12230139 PTHLH parathyroid hormone like hormone gene DOID:850 lung disease ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20857298 12230139 PTHLH parathyroid hormone like hormone gene DOID:9000067 Congenital Foot Deformities ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20170896 12230139 PTHLH parathyroid hormone like hormone gene DOID:9000139 Superior Vena Cava Syndrome ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12358896 12230139 PTHLH parathyroid hormone like hormone gene DOID:9000197 Edema ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25035110 12230139 PTHLH parathyroid hormone like hormone gene DOID:9002211 Hyperalgesia ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16769263 12230139 PTHLH parathyroid hormone like hormone gene DOID:9002304 Prostatic Neoplasms ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16243370 12230139 PTHLH parathyroid hormone like hormone gene DOID:9003281 Spontaneous Abortions ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12230139 PTHLH parathyroid hormone like hormone gene DOID:9004795 Congenital Hand Deformities ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20170896 12230139 PTHLH parathyroid hormone like hormone gene DOID:9006081 Osteolysis ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11054717 12230139 PTHLH parathyroid hormone like hormone gene DOID:9006190 Chronic Pancreatitis ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25035110 12230139 PTHLH parathyroid hormone like hormone gene DOID:9006257 Growth Disorders ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20170896 12230139 PTHLH parathyroid hormone like hormone gene DOID:9007346 Cachexia ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17878525 12230139 PTHLH parathyroid hormone like hormone gene DOID:9008939 Breast Neoplasms ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22267197 12230139 PTHLH parathyroid hormone like hormone gene DOID:9538 multiple myeloma ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11054717 12230167 SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:0050572 cone-rod dystrophy ISO RGD:1351534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:23847139|PMID:25741868|PMID:27735924|PMID:28492532|PMID:28559085 12230167 SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:0050817 Stargardt disease ISO RGD:1351534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:30718709 12230167 SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:0110366 retinitis pigmentosa 33 ISO RGD:1351534 D RGD:7240710 20180130 OMIM 12230167 SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:0110366 retinitis pigmentosa 33 ISO RGD:1351534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 33 PMID:16612614|PMID:19710410|PMID:19878916|PMID:21618346|PMID:23029027|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24516651|PMID:24938718|PMID:24940031|PMID:25097241|PMID:25741868|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28559085|PMID:30360737|PMID:30718709|PMID:31260034|PMID:31486839|PMID:33546218 12230167 SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:10584 retinitis pigmentosa ISO RGD:1351534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16612614|PMID:17576681|PMID:19878916|PMID:21618346|PMID:23887765|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24516651|PMID:24940031|PMID:25741868|PMID:26355662|PMID:26720483|PMID:28041643|PMID:28076437|PMID:28166811|PMID:28492532|PMID:28559085|PMID:30360737|PMID:30718709|PMID:9536098 12230167 SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:10584 retinitis pigmentosa ISO RGD:1351534 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16612614|PMID:17576681|PMID:19878916|PMID:21618346|PMID:23887765|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24940031|PMID:25741868|PMID:26355662|PMID:26720483|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28559085|PMID:30360737|PMID:30718709|PMID:9536098 12230167 SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:10584 retinitis pigmentosa ISO RGD:1351534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:16612614|PMID:17576681|PMID:19878916|PMID:21618346|PMID:23887765|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24516651|PMID:24940031|PMID:25741868|PMID:26355662|PMID:26720483|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28559085|PMID:30360737|PMID:30718709|PMID:31054281|PMID:9536098 12230167 SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:1059 intellectual disability ISO RGD:1351534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12230167 SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:5419 schizophrenia ISO RGD:1351534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12230167 SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:630 genetic disease ISO RGD:1351534 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12230167 SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:8501 fundus dystrophy ISO RGD:1351534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16612614|PMID:19878916|PMID:21618346|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24516651|PMID:24940031|PMID:25741868|PMID:27208204|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28559085|PMID:30360737|PMID:32037395|PMID:33429167|PMID:33576794 12230216 STAC SH3 and cysteine rich domain gene DOID:3042 allergic contact dermatitis ISO RGD:1313960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 12230216 STAC SH3 and cysteine rich domain gene DOID:630 genetic disease ISO RGD:1313960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230236 LRRC57 leucine rich repeat containing 57 gene DOID:2717 Bloom syndrome ISO RGD:1602825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12230236 LRRC57 leucine rich repeat containing 57 gene DOID:630 genetic disease ISO RGD:1602825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230236 LRRC57 leucine rich repeat containing 57 gene DOID:9256 colorectal cancer ISO RGD:1602825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12230249 SNX4 sorting nexin 4 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1320273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12230249 SNX4 sorting nexin 4 gene DOID:630 genetic disease ISO RGD:1320273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230249 SNX4 sorting nexin 4 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1320273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 12230249 SNX4 sorting nexin 4 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1320273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12230249 SNX4 sorting nexin 4 gene DOID:9270 alkaptonuria ISO RGD:1320273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12230265 IFT22 intraflagellar transport 22 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12230265 IFT22 intraflagellar transport 22 gene DOID:630 genetic disease ISO RGD:1313356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230283 PLPPR5 phospholipid phosphatase related 5 gene DOID:630 genetic disease ISO RGD:1604517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230292 PSMA3 proteasome 20S subunit alpha 3 gene DOID:0050553 JMP syndrome ISO RGD:732188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC PMID:21953331|PMID:26524591 12230292 PSMA3 proteasome 20S subunit alpha 3 gene DOID:0110992 Joubert syndrome 23 ISO RGD:732188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 23 PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532 12230292 PSMA3 proteasome 20S subunit alpha 3 gene DOID:630 genetic disease ISO RGD:732188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12230308 NUDT7 nudix hydrolase 7 gene DOID:0060041 autism spectrum disorder ISO RGD:1350832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12230308 NUDT7 nudix hydrolase 7 gene DOID:630 genetic disease ISO RGD:1350832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230308 NUDT7 nudix hydrolase 7 gene DOID:9007188 Liver Neoplasms ISO RGD:1350832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 12230319 CUX1 cut like homeobox 1 gene DOID:10534 stomach cancer exacerbates ISO RGD:1319831 D RGD:9068941 20220609 RGD protein:decreased activity:stomach (human) PMID:23255599|REF_RGD_ID:152985542 12230319 CUX1 cut like homeobox 1 gene DOID:1059 intellectual disability ISO RGD:1319831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12230319 CUX1 cut like homeobox 1 gene DOID:1798 pancreatic endocrine carcinoma exacerbates ISO RGD:1319831 D RGD:9068941 20220728 RGD protein:increased expression:pancreas (human) PMID:32707646|REF_RGD_ID:153297777 12230319 CUX1 cut like homeobox 1 gene DOID:3892 insulinoma disease_progression ISO RGD:733203 D RGD:9068941 20220609 RGD mRNA:increased expression:pancreas (mouse) PMID:25248790|REF_RGD_ID:152985543 12230319 CUX1 cut like homeobox 1 gene DOID:3892 insulinoma exacerbates ISO RGD:1319831 D RGD:9068941 20220609 RGD protein:increased expression:pancreas (human) PMID:25248790|REF_RGD_ID:152985543 12230319 CUX1 cut like homeobox 1 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1319831 D RGD:9068941 20220609 RGD mRNA:increased expression:lung (human) PMID:28405678|REF_RGD_ID:152985544 12230319 CUX1 cut like homeobox 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12230319 CUX1 cut like homeobox 1 gene DOID:630 genetic disease ISO RGD:1319831 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12230319 CUX1 cut like homeobox 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1319831 D RGD:9068941 20220609 RGD mRNA:increased expression:liver (human) PMID:30561038|REF_RGD_ID:152985541 12230319 CUX1 cut like homeobox 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12230319 CUX1 cut like homeobox 1 gene DOID:9007702 Carcinogenesis ISO RGD:1319831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24316979 12230319 CUX1 cut like homeobox 1 gene DOID:9008363 GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT ISO RGD:1319831 D RGD:7240710 20190710 OMIM 12230319 CUX1 cut like homeobox 1 gene DOID:9008363 GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT ISO RGD:1319831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay with or without impaired intellectual development PMID:25741868|PMID:30014507 12230319 CUX1 cut like homeobox 1 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1319831 D RGD:9068941 20220609 RGD mRNA:increased expression:colorectum (human) PMID:33014778|REF_RGD_ID:152985540 12230373 MSMP microseminoprotein, prostate associated gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:2304156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12230373 MSMP microseminoprotein, prostate associated gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:2304156 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12230373 MSMP microseminoprotein, prostate associated gene DOID:0080942 anauxetic dysplasia ISO RGD:2304156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12230373 MSMP microseminoprotein, prostate associated gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:2304156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12230373 MSMP microseminoprotein, prostate associated gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:2304156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12230373 MSMP microseminoprotein, prostate associated gene DOID:630 genetic disease ISO RGD:2304156 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230373 MSMP microseminoprotein, prostate associated gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:2304156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12230373 MSMP microseminoprotein, prostate associated gene DOID:9562 primary ciliary dyskinesia ISO RGD:2304156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12230373 MSMP microseminoprotein, prostate associated gene DOID:9870 galactosemia ISO RGD:2304156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12230380 LRTM2 leucine rich repeats and transmembrane domains 2 gene DOID:630 genetic disease ISO RGD:1605448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230380 LRTM2 leucine rich repeats and transmembrane domains 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12230402 GPN3 GPN-loop GTPase 3 gene DOID:630 genetic disease ISO RGD:1606002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230450 KRT1 keratin 1 gene DOID:0050428 nonepidermolytic palmoplantar keratoderma ISO RGD:1346930 D RGD:7240710 20180130 OMIM 12230450 KRT1 keratin 1 gene DOID:0050428 nonepidermolytic palmoplantar keratoderma ISO RGD:1346930 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diffuse nonepidermolytic palmoplantar keratoderma PMID:12406346|PMID:19470048|PMID:25741868|PMID:28492532|PMID:7528239 12230450 KRT1 keratin 1 gene DOID:0080223 epidermolytic palmoplantar keratoderma ISO RGD:1346930 D RGD:7240710 20180130 OMIM 12230450 KRT1 keratin 1 gene DOID:0080223 epidermolytic palmoplantar keratoderma ISO RGD:1346930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma PMID:11286630|PMID:28492532 12230450 KRT1 keratin 1 gene DOID:0081110 keratosis palmoplantaris striata 3 ISO RGD:1346930 D RGD:7240710 20180130 OMIM 12230450 KRT1 keratin 1 gene DOID:0081110 keratosis palmoplantaris striata 3 ISO RGD:1346930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata 3 PMID:11286616|PMID:11982762 12230450 KRT1 keratin 1 gene DOID:10283 prostate cancer ISO RGD:1346930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12230450 KRT1 keratin 1 gene DOID:161 keratosis ISO RGD:1346930 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35363433 12230450 KRT1 keratin 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1346930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 12230450 KRT1 keratin 1 gene DOID:4603 epidermolytic hyperkeratosis ISO RGD:1346930 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma PMID:11531804|PMID:11559215|PMID:12406348|PMID:1380725|PMID:1381288|PMID:25741868|PMID:26581228|PMID:28492532|PMID:33363884|PMID:7511022|PMID:7512983 12230450 KRT1 keratin 1 gene DOID:4603 epidermolytic hyperkeratosis susceptibility ISO RGD:1346930 D RGD:9068941 20200609 RGD DNA:mutation: ; 5191/5192GG>A PMID:11286616|REF_RGD_ID:1600166 12230450 KRT1 keratin 1 gene DOID:630 genetic disease ISO RGD:1346930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230450 KRT1 keratin 1 gene DOID:9000550 Epidermolytic Hyperkeratosis, Late-Onset ISO RGD:1346930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolytic hyperkeratosis, late-onset PMID:12648226 12230450 KRT1 keratin 1 gene DOID:9002744 Ichthyosis Hystrix, Curth Macklin Type ISO RGD:1346930 D RGD:7240710 20180130 OMIM 12230450 KRT1 keratin 1 gene DOID:9002744 Ichthyosis Hystrix, Curth Macklin Type ISO RGD:1346930 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ichthyosis hystrix, Curth Macklin type PMID:16417221|PMID:21844476|PMID:22834809 12230450 KRT1 keratin 1 gene DOID:9004464 Skin Neoplasms ISO RGD:1346930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 12230450 KRT1 keratin 1 gene DOID:9005778 Annular Epidermolytic Ichthyosis ISO RGD:1346930 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Annular epidermolytic ichthyosis PMID:10053007|PMID:14708600|PMID:15214894|PMID:22250628|PMID:25741868|PMID:28492532|PMID:30152556|PMID:31046801|PMID:8751983 12230450 KRT1 keratin 1 gene DOID:9006135 Epidermolytic Hyperkeratosis 1 ISO RGD:1346930 D RGD:7240710 20230517 OMIM 12230450 KRT1 keratin 1 gene DOID:9006224 Reticular Erythrokeratoderma ISO RGD:1346930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital reticular ichthyosiform erythroderma PMID:25774499 12230450 KRT1 keratin 1 gene DOID:9006935 Annular Epidermolytic Ichthyosis 2 ISO RGD:1346930 D RGD:7240710 20221214 OMIM 12230450 KRT1 keratin 1 gene DOID:9006935 Annular Epidermolytic Ichthyosis 2 ISO RGD:1346930 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ichthyosis, annular epidermolytic, 2 PMID:10053007|PMID:15214894|PMID:22250628|PMID:25741868|PMID:28492532|PMID:30152556 12230461 STOML2 stomatin like 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1317972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12230461 STOML2 stomatin like 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1317972 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12230461 STOML2 stomatin like 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:1317972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12230461 STOML2 stomatin like 2 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1317972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12230461 STOML2 stomatin like 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1317972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12230461 STOML2 stomatin like 2 gene DOID:2773 contact dermatitis ISO RGD:1317972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12230461 STOML2 stomatin like 2 gene DOID:630 genetic disease ISO RGD:1317972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230461 STOML2 stomatin like 2 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1317972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12230461 STOML2 stomatin like 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12230461 STOML2 stomatin like 2 gene DOID:9870 galactosemia ISO RGD:1317972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12230475 MRPL50 mitochondrial ribosomal protein L50 gene DOID:1059 intellectual disability ISO RGD:1317530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12230475 MRPL50 mitochondrial ribosomal protein L50 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:1317530 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 12230475 MRPL50 mitochondrial ribosomal protein L50 gene DOID:630 genetic disease ISO RGD:1317530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230475 MRPL50 mitochondrial ribosomal protein L50 gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:1317530 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:0050553 JMP syndrome ISO RGD:737219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:0060058 lymphoma ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:17609424|REF_RGD_ID:6483350 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:0080199 colorectal carcinoma ISO RGD:737219 D RGD:9068941 20200609 RGD protein: decreased expression PMID:14750179|REF_RGD_ID:6483362 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:10316 pneumoconiosis ISO RGD:737219 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:11394 adult respiratory distress syndrome ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:22363101|REF_RGD_ID:6483444 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:12306 vitiligo ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:14551602|REF_RGD_ID:1578358 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:12858 Huntington's disease ISO RGD:11180 D RGD:9068941 20200609 RGD PMID:14684867|REF_RGD_ID:6483364 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:12858 Huntington's disease ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:14684867|REF_RGD_ID:6483364 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:13976 peptic esophagitis ISO RGD:3427 D RGD:9068941 20200609 RGD protein:decreased expression:esophageal epithelium (rat) PMID:23942904|REF_RGD_ID:9854630 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:1459 hypothyroidism ISO RGD:11180 D RGD:9068941 20200609 RGD PMID:19924240|REF_RGD_ID:6483332 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:2377 multiple sclerosis ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:20174631|REF_RGD_ID:6483446 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:2722 acrodermatitis ISO RGD:737219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:3459 breast carcinoma ISO RGD:3427 D RGD:9068941 20200609 RGD protein:altered expression:tumor (rat) PMID:21889127|REF_RGD_ID:9854639 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:19492245|REF_RGD_ID:6482249 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:4450 renal cell carcinoma ISO RGD:737219 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-151G>T (human) PMID:11788900|REF_RGD_ID:9999148 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:630 genetic disease ISO RGD:737219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:7147 ankylosing spondylitis ISO RGD:737219 D RGD:9068941 20200609 RGD DNA: snp: rs17587 PMID:22034108|REF_RGD_ID:6483349 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:7188 autoimmune thyroiditis ISO RGD:737219 D RGD:9068941 20200609 RGD DNA:missense mutation: cds: Arg60His PMID:12189117|REF_RGD_ID:6483439 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:8161 thyroid gland Hurthle cell carcinoma ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:19924240|REF_RGD_ID:6483332 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:8893 psoriasis ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:17581627|REF_RGD_ID:6482263 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:9000380 Spondylarthritis ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:15603870|REF_RGD_ID:6483462 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:9000380 Spondylarthritis no_association ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:9496154|REF_RGD_ID:6483495 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:9004268 Uterine Neoplasms ISO RGD:11180 D RGD:9068941 20200609 RGD PMID:11782352|REF_RGD_ID:6483440 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:9004283 Transplant Rejection severity ISO RGD:3427 D RGD:9068941 20200609 RGD protein:increased expression:liver, kidney (rat) PMID:22834313|REF_RGD_ID:9854627 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3427 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:20968039|REF_RGD_ID:9850284 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:9007355 Hashimoto Disease ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:19924240|REF_RGD_ID:6483332 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:9009202 Proteasome-Associated Autoinflammatory Syndrome 3 ISO RGD:737219 D RGD:7240710 20190315 OMIM 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:9009202 Proteasome-Associated Autoinflammatory Syndrome 3 ISO RGD:737219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 3 PMID:25741868|PMID:26524591 12230481 PSMB9 proteasome 20S subunit beta 9 gene DOID:9744 type 1 diabetes mellitus ISO RGD:11180 D RGD:9068941 20200609 RGD PMID:11717249|REF_RGD_ID:6483441 12230491 DCAF13 DDB1 and CUL4 associated factor 13 gene DOID:0111590 Cohen syndrome ISO RGD:1604028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12230491 DCAF13 DDB1 and CUL4 associated factor 13 gene DOID:630 genetic disease ISO RGD:1604028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230509 PPCS phosphopantothenoylcysteine synthetase gene DOID:0081159 dilated cardiomyopathy 2C ISO RGD:1605955 D RGD:7240710 20190315 OMIM 12230509 PPCS phosphopantothenoylcysteine synthetase gene DOID:0081159 dilated cardiomyopathy 2C ISO RGD:1605955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2c PMID:25741868|PMID:28492532|PMID:29754768 12230509 PPCS phosphopantothenoylcysteine synthetase gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12230509 PPCS phosphopantothenoylcysteine synthetase gene DOID:630 genetic disease ISO RGD:1605955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12230522 RALA RAS like proto-oncogene A gene DOID:1059 intellectual disability ISO RGD:1354223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:11701921|PMID:15950903|PMID:15980073|PMID:25741868|PMID:28492532|PMID:30500825|PMID:30761613 12230522 RALA RAS like proto-oncogene A gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1354223 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:10441570|PMID:15739154|PMID:18000979|PMID:20672375|PMID:24736735|PMID:28492532|PMID:29236091 12230522 RALA RAS like proto-oncogene A gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:1354223 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (human) PMID:29113235|REF_RGD_ID:14394418 12230522 RALA RAS like proto-oncogene A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1354223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12230522 RALA RAS like proto-oncogene A gene DOID:630 genetic disease ISO RGD:1354223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11701921|PMID:15950903|PMID:15980073|PMID:25741868|PMID:28492532|PMID:30500825|PMID:30761613 12230522 RALA RAS like proto-oncogene A gene DOID:9008002 HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME ISO RGD:1354223 D RGD:7240710 20210623 OMIM 12230522 RALA RAS like proto-oncogene A gene DOID:9008002 HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME ISO RGD:1354223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hiatt-Neu-Cooper neurodevelopmental syndrome PMID:11701921|PMID:15950903|PMID:15980073|PMID:25741868|PMID:28492532|PMID:30500825|PMID:30761613 12230530 SGMS1 sphingomyelin synthase 1 gene DOID:11372 megacolon ISO RGD:1352309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12230530 SGMS1 sphingomyelin synthase 1 gene DOID:630 genetic disease ISO RGD:1352309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230530 Sgms1 sphingomyelin synthase 1 gene DOID:11396 pulmonary edema ISO RGD:727912 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:12353928|REF_RGD_ID:1302423 12230565 TINAGL1 tubulointerstitial nephritis antigen like 1 gene DOID:630 genetic disease ISO RGD:1352792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230581 MRPS18C mitochondrial ribosomal protein S18C gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1317511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 12230581 MRPS18C mitochondrial ribosomal protein S18C gene DOID:630 genetic disease ISO RGD:1317511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230597 HIRIP3 HIRA interacting protein 3 gene DOID:0060019 coronin-1A deficiency ISO RGD:1315096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12230597 HIRIP3 HIRA interacting protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1315096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12230597 HIRIP3 HIRA interacting protein 3 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1315096 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12230597 HIRIP3 HIRA interacting protein 3 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1315096 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12230597 HIRIP3 HIRA interacting protein 3 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1315096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12230597 HIRIP3 HIRA interacting protein 3 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1315096 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12230597 HIRIP3 HIRA interacting protein 3 gene DOID:12849 autistic disorder ISO RGD:1315096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12230597 HIRIP3 HIRA interacting protein 3 gene DOID:1882 atrial heart septal defect ISO RGD:1315096 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12230597 HIRIP3 HIRA interacting protein 3 gene DOID:5419 schizophrenia ISO RGD:1315096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12230597 HIRIP3 HIRA interacting protein 3 gene DOID:630 genetic disease ISO RGD:1315096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230597 HIRIP3 HIRA interacting protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12230597 HIRIP3 HIRA interacting protein 3 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1315096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12230597 HIRIP3 HIRA interacting protein 3 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1315096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12230608 AXDND1 axonemal dynein light chain domain containing 1 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1605000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12230608 AXDND1 axonemal dynein light chain domain containing 1 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1605000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:10742096|PMID:11805166|PMID:12464671|PMID:12707396|PMID:14675423|PMID:14978175|PMID:15015071|PMID:15253708|PMID:15327385|PMID:15496146|PMID:15769810|PMID:15817495|PMID:16354237|PMID:16898497|PMID:17371932|PMID:17576681|PMID:17899208|PMID:18216321|PMID:18443213|PMID:18709391|PMID:18823551|PMID:19145239|PMID:19406966|PMID:19876656|PMID:20507940|PMID:20798252|PMID:20947785|PMID:21171529|PMID:21355056|PMID:21415313|PMID:22565185|PMID:22578956|PMID:22763815|PMID:23242530|PMID:23349334|PMID:23515051|PMID:23595123|PMID:23645318|PMID:24033266|PMID:24227627|PMID:24413855|PMID:24509478|PMID:24742477|PMID:24856380|PMID:25349199|PMID:25525159|PMID:25741868|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:26594346|PMID:26668027|PMID:28476686|PMID:28492532|PMID:28658201|PMID:28780565|PMID:29382718|PMID:29644057|PMID:29660491|PMID:29982877|PMID:30013592|PMID:30260545|PMID:30295827|PMID:30406062|PMID:30450462|PMID:30655312|PMID:31308032|PMID:32581362|PMID:32604935|PMID:33532864|PMID:8589695|PMID:9536098 12230608 AXDND1 axonemal dynein light chain domain containing 1 gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1605000 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Idiopathic nephrotic syndrome PMID:11805166|PMID:12464671|PMID:12707396|PMID:14978175|PMID:15253708|PMID:15769810|PMID:16354237|PMID:16898497|PMID:18823551|PMID:19145239|PMID:19876656|PMID:20798252|PMID:20947785|PMID:21355056|PMID:21415313|PMID:23349334|PMID:23515051|PMID:23645318|PMID:24227627|PMID:24509478|PMID:25349199|PMID:25741868|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:28492532|PMID:28780565|PMID:29382718|PMID:29644057|PMID:29660491|PMID:29982877|PMID:32604935 12230608 AXDND1 axonemal dynein light chain domain containing 1 gene DOID:1184 nephrotic syndrome ISO RGD:1605000 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome PMID:10742096|PMID:11805166|PMID:12464671|PMID:12707396|PMID:15253708|PMID:15327385|PMID:18823551|PMID:19145239|PMID:19406966|PMID:20798252|PMID:20947785|PMID:21355056|PMID:22763815|PMID:23515051|PMID:23645318|PMID:24509478|PMID:24742477|PMID:25349199|PMID:25741868|PMID:26413278|PMID:28492532|PMID:28780565|PMID:29127259|PMID:29382718|PMID:29644057|PMID:29660491|PMID:30655312|PMID:32581362|PMID:8589695 12230608 AXDND1 axonemal dynein light chain domain containing 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1605000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:10742096|PMID:11805166|PMID:15253708|PMID:15327385|PMID:18823551|PMID:19406966|PMID:20947785|PMID:21355056|PMID:24509478|PMID:24742477|PMID:25741868|PMID:28492532|PMID:30655312|PMID:32581362|PMID:8589695 12230608 AXDND1 axonemal dynein light chain domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1605000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12230608 AXDND1 axonemal dynein light chain domain containing 1 gene DOID:557 kidney disease ISO RGD:1605000 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 12230608 AXDND1 axonemal dynein light chain domain containing 1 gene DOID:576 proteinuria ISO RGD:1605000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proteinuria 12230608 AXDND1 axonemal dynein light chain domain containing 1 gene DOID:630 genetic disease ISO RGD:1605000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230608 AXDND1 axonemal dynein light chain domain containing 1 gene DOID:784 chronic kidney disease ISO RGD:1605000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:10742096|PMID:11805166|PMID:15253708|PMID:15327385|PMID:18823551|PMID:19406966|PMID:20947785|PMID:21355056|PMID:24509478|PMID:24742477|PMID:25741868|PMID:28492532|PMID:30655312|PMID:32581362|PMID:8589695 12230608 AXDND1 axonemal dynein light chain domain containing 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12230608 AXDND1 axonemal dynein light chain domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12230642 AP1G2 adaptor related protein complex 1 subunit gamma 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1313902 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12230642 AP1G2 adaptor related protein complex 1 subunit gamma 2 gene DOID:630 genetic disease ISO RGD:1313902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230642 AP1G2 adaptor related protein complex 1 subunit gamma 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1313902 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12230642 AP1G2 adaptor related protein complex 1 subunit gamma 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1313902 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12230642 AP1G2 adaptor related protein complex 1 subunit gamma 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1313902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12230642 AP1G2 adaptor related protein complex 1 subunit gamma 2 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1313902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 12230669 AHSA1 activator of HSP90 ATPase activity 1 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1346562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 12230669 AHSA1 activator of HSP90 ATPase activity 1 gene DOID:630 genetic disease ISO RGD:1346562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230682 PJA1 praja ring finger ubiquitin ligase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12230682 PJA1 praja ring finger ubiquitin ligase 1 gene DOID:12849 autistic disorder ISO RGD:1353522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12230682 PJA1 praja ring finger ubiquitin ligase 1 gene DOID:14737 craniofrontonasal syndrome ISO RGD:1353522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17941886 12230682 PJA1 praja ring finger ubiquitin ligase 1 gene DOID:630 genetic disease ISO RGD:1353522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230698 MED20 mediator complex subunit 20 gene DOID:0050444 infantile Refsum disease ISO RGD:1606323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12230698 MED20 mediator complex subunit 20 gene DOID:630 genetic disease ISO RGD:1606323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230698 MED20 mediator complex subunit 20 gene DOID:905 Zellweger syndrome ISO RGD:1606323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12230709 MSR1 macrophage scavenger receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1347158 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12230709 MSR1 macrophage scavenger receptor 1 gene DOID:0110034 X-linked Alport syndrome ISO RGD:1347158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome PMID:12244320|PMID:12958598|PMID:21791690|PMID:24082139|PMID:25333069|PMID:25741868|PMID:28492532 12230709 MSR1 macrophage scavenger receptor 1 gene DOID:10283 prostate cancer ISO RGD:1347158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:12244320|PMID:12958598|PMID:21791690|PMID:24082139|PMID:25333069|PMID:25741868|PMID:28492532 12230709 MSR1 macrophage scavenger receptor 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:1347158 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17903305|REF_RGD_ID:2306127 12230709 MSR1 macrophage scavenger receptor 1 gene DOID:2349 arteriosclerosis ISO RGD:1347158 D RGD:9068941 20200609 RGD PMID:14664792|REF_RGD_ID:2306130 12230709 MSR1 macrophage scavenger receptor 1 gene DOID:2349 arteriosclerosis ISO RGD:1557852 D RGD:9068941 20200609 RGD PMID:15567863|PMID:9069289|REF_RGD_ID:1582314|REF_RGD_ID:1582669 12230709 MSR1 macrophage scavenger receptor 1 gene DOID:2394 ovarian cancer ISO RGD:1347158 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 12230709 MSR1 macrophage scavenger receptor 1 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1347158 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 12230709 MSR1 macrophage scavenger receptor 1 gene DOID:630 genetic disease ISO RGD:1347158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230709 MSR1 macrophage scavenger receptor 1 gene DOID:783 end stage renal disease ISO RGD:1347158 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 12230709 MSR1 macrophage scavenger receptor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347158 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16998812 12230709 MSR1 macrophage scavenger receptor 1 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1557852 D RGD:9068941 20200609 RGD PMID:17510407|REF_RGD_ID:2306128 12230709 MSR1 macrophage scavenger receptor 1 gene DOID:9003023 Heart Rupture, Post-Infarction ISO RGD:1557852 D RGD:9068941 20200609 RGD PMID:17389263|REF_RGD_ID:2306129 12230709 MSR1 macrophage scavenger receptor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12244320|PMID:12958598|PMID:21791690|PMID:24082139|PMID:25333069|PMID:25741868|PMID:28492532 12230709 MSR1 macrophage scavenger receptor 1 gene DOID:9007102 Myocardial Ischemia disease_progression ISO RGD:1347158 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell PMID:17945237|REF_RGD_ID:2306126 12230709 MSR1 macrophage scavenger receptor 1 gene DOID:9206 Barrett's esophagus ISO RGD:1347158 D RGD:7240710 20180130 OMIM 12230709 MSR1 macrophage scavenger receptor 1 gene DOID:9206 Barrett's esophagus ISO RGD:1347158 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Barrett esophagus | ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma PMID:12244320|PMID:12958598|PMID:21791690|PMID:24082139|PMID:25333069|PMID:25741868|PMID:28492532 12230726 HYAL2 hyaluronidase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12230726 HYAL2 hyaluronidase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12230726 HYAL2 hyaluronidase 2 gene DOID:630 genetic disease ISO RGD:733698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230726 HYAL2 hyaluronidase 2 gene DOID:6432 pulmonary hypertension ISO RGD:620321 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:19915162|REF_RGD_ID:9588633 12230726 HYAL2 hyaluronidase 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:620321 D RGD:9068941 20200609 RGD PMID:22529164|REF_RGD_ID:9588636 12230726 HYAL2 hyaluronidase 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:733698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12230746 SLC25A20 solute carrier family 25 member 20 gene DOID:0060041 autism spectrum disorder ISO RGD:732535 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12230746 SLC25A20 solute carrier family 25 member 20 gene DOID:0111585 carnitine-acylcarnitine translocase deficiency ISO RGD:732535 D RGD:7240710 20180130 OMIM 12230746 SLC25A20 solute carrier family 25 member 20 gene DOID:0111585 carnitine-acylcarnitine translocase deficiency ISO RGD:732535 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency PMID:10384384|PMID:10697964|PMID:11162577|PMID:11350184|PMID:11592821|PMID:12559850|PMID:12801121|PMID:12859414|PMID:15057979|PMID:15365988|PMID:1598097|PMID:16199547|PMID:16919490|PMID:17277394|PMID:17576681|PMID:21605995|PMID:22020112|PMID:24088670|PMID:25032985|PMID:25459972|PMID:25614308|PMID:25741868|PMID:26238931|PMID:27066551|PMID:28492532|PMID:31319225|PMID:31589614|PMID:32340404|PMID:33634872|PMID:5365988|PMID:9399886|PMID:9536098|PMID:9686371 12230746 SLC25A20 solute carrier family 25 member 20 gene DOID:630 genetic disease ISO RGD:732535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12230746 SLC25A20 solute carrier family 25 member 20 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:732535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12230746 SLC25A20 solute carrier family 25 member 20 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:732535 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12230759 PODNL1 podocan like 1 gene DOID:630 genetic disease ISO RGD:1602677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230777 PIP5K1C phosphatidylinositol-4-phosphate 5-kinase type 1 gamma gene DOID:0060653 lethal congenital contracture syndrome 3 ISO RGD:1320550 D RGD:7240710 20180130 OMIM 12230777 PIP5K1C phosphatidylinositol-4-phosphate 5-kinase type 1 gamma gene DOID:0060653 lethal congenital contracture syndrome 3 ISO RGD:1320550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 3 PMID:17701898|PMID:25741868 12230777 PIP5K1C phosphatidylinositol-4-phosphate 5-kinase type 1 gamma gene DOID:630 genetic disease ISO RGD:1320550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12230801 PHB2 prohibitin 2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1604641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12230801 PHB2 prohibitin 2 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1604641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12230801 PHB2 prohibitin 2 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1604641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12230801 PHB2 prohibitin 2 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1604641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12230801 PHB2 prohibitin 2 gene DOID:0111621 Temtamy syndrome ISO RGD:1604641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12230801 PHB2 prohibitin 2 gene DOID:630 genetic disease ISO RGD:1604641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230801 PHB2 prohibitin 2 gene DOID:9000998 Brain Injuries ISO RGD:620203 D RGD:9068941 20200609 RGD PMID:24566151|REF_RGD_ID:12903261 12230801 PHB2 prohibitin 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1604641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12230815 DOK4 docking protein 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320786 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12230815 DOK4 docking protein 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320786 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12230815 DOK4 docking protein 4 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1320786 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12230815 DOK4 docking protein 4 gene DOID:630 genetic disease ISO RGD:1320786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230828 ANKRD34C ankyrin repeat domain 34C gene DOID:2717 Bloom syndrome ISO RGD:2291762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12230828 ANKRD34C ankyrin repeat domain 34C gene DOID:630 genetic disease ISO RGD:2291762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230828 ANKRD34C ankyrin repeat domain 34C gene DOID:9256 colorectal cancer ISO RGD:2291762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12230835 LRRC47 leucine rich repeat containing 47 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12230835 LRRC47 leucine rich repeat containing 47 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12230835 LRRC47 leucine rich repeat containing 47 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12230835 LRRC47 leucine rich repeat containing 47 gene DOID:0111934 immunodeficiency 38 ISO RGD:1603205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12230835 LRRC47 leucine rich repeat containing 47 gene DOID:0111935 immunodeficiency 16 ISO RGD:1603205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12230835 LRRC47 leucine rich repeat containing 47 gene DOID:630 genetic disease ISO RGD:1603205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230835 LRRC47 leucine rich repeat containing 47 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12230835 LRRC47 leucine rich repeat containing 47 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12230845 CPSF4 cleavage and polyadenylation specific factor 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12230845 CPSF4 cleavage and polyadenylation specific factor 4 gene DOID:630 genetic disease ISO RGD:736724 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230868 MSTO1 misato mitochondrial distribution and morphology regulator 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12230868 MSTO1 misato mitochondrial distribution and morphology regulator 1 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1602702 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532|PMID:30684668|PMID:31463572 12230868 MSTO1 misato mitochondrial distribution and morphology regulator 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1602702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12230868 MSTO1 misato mitochondrial distribution and morphology regulator 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1602702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12230868 MSTO1 misato mitochondrial distribution and morphology regulator 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1602702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12230868 MSTO1 misato mitochondrial distribution and morphology regulator 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12230868 MSTO1 misato mitochondrial distribution and morphology regulator 1 gene DOID:5812 MHC class II deficiency ISO RGD:1602702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12230868 MSTO1 misato mitochondrial distribution and morphology regulator 1 gene DOID:630 genetic disease ISO RGD:1602702 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28544275|PMID:31463572|PMID:31607746|PMID:33222031 12230868 MSTO1 misato mitochondrial distribution and morphology regulator 1 gene DOID:9007424 Mitochondrial Myopathy, and Ataxia ISO RGD:1602702 D RGD:7240710 20190315 OMIM 12230868 MSTO1 misato mitochondrial distribution and morphology regulator 1 gene DOID:9007424 Mitochondrial Myopathy, and Ataxia ISO RGD:1602702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MSTO1-related disorder | ClinVar Annotator: match by term: MYOPATHY, MITOCHONDRIAL, AND ATAXIA PMID:25741868|PMID:28492532|PMID:28544275|PMID:28554942|PMID:29339779|PMID:30684668|PMID:31463572|PMID:31607746|PMID:33222031 12230868 MSTO1 misato mitochondrial distribution and morphology regulator 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12230886 HIC1 HIC ZBTB transcriptional repressor 1 gene DOID:0050902 medulloblastoma ISO RGD:1316774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18347096 12230886 HIC1 HIC ZBTB transcriptional repressor 1 gene DOID:0060469 Miller-Dieker lissencephaly syndrome ISO RGD:1316775 D RGD:9068941 20220825 MouseDO OMIM:247200 12230886 HIC1 HIC ZBTB transcriptional repressor 1 gene DOID:4448 macular degeneration ISO RGD:1316774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30742112 12230886 HIC1 HIC ZBTB transcriptional repressor 1 gene DOID:630 genetic disease ISO RGD:1316774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230886 HIC1 HIC ZBTB transcriptional repressor 1 gene DOID:9003896 Polyps ISO RGD:1316774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297660 12230886 HIC1 HIC ZBTB transcriptional repressor 1 gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:1316774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297660 12230886 HIC1 HIC ZBTB transcriptional repressor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1316774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20154726 12230896 P2RY10 P2Y receptor family member 10 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12230896 P2RY10 P2Y receptor family member 10 gene DOID:12849 autistic disorder ISO RGD:1343009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12230896 P2RY10 P2Y receptor family member 10 gene DOID:630 genetic disease ISO RGD:1343009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230907 MCAT malonyl-CoA-acyl carrier protein transacylase gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1607045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12230907 MCAT malonyl-CoA-acyl carrier protein transacylase gene DOID:1059 intellectual disability ISO RGD:1607045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12230907 MCAT malonyl-CoA-acyl carrier protein transacylase gene DOID:630 genetic disease ISO RGD:1607045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230907 MCAT malonyl-CoA-acyl carrier protein transacylase gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1607045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 12230915 FSD2 fibronectin type III and SPRY domain containing 2 gene DOID:13938 amenorrhea ISO RGD:1346005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12230915 FSD2 fibronectin type III and SPRY domain containing 2 gene DOID:2717 Bloom syndrome ISO RGD:1346005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12230915 FSD2 fibronectin type III and SPRY domain containing 2 gene DOID:630 genetic disease ISO RGD:1346005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230915 FSD2 fibronectin type III and SPRY domain containing 2 gene DOID:9256 colorectal cancer ISO RGD:1346005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12230934 CNBD2 cyclic nucleotide binding domain containing 2 gene DOID:630 genetic disease ISO RGD:1323261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230964 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1346613 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12230964 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1346613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12230964 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1346613 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:28774887|REF_RGD_ID:15045601 12230964 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1346613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12230964 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1346613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12230964 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:1059 intellectual disability ISO RGD:1346613 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10775536|PMID:11181744|PMID:12933951|PMID:14741198|PMID:16157755|PMID:16278884|PMID:16816916|PMID:17697869|PMID:18227423|PMID:19092443|PMID:2019602|PMID:20402754|PMID:21073839|PMID:21645175|PMID:21955034|PMID:21958693|PMID:22878431|PMID:24002088|PMID:24033266|PMID:24584636|PMID:24746394|PMID:25447658|PMID:25741868|PMID:25862734|PMID:25941960|PMID:25983621|PMID:26156051|PMID:26206375|PMID:26861945|PMID:26906304|PMID:28324197|PMID:28492532|PMID:28623566|PMID:29095540|PMID:29321515|PMID:32523054|PMID:8950197|PMID:9186905|PMID:9790667 12230964 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:13580 cholestasis ISO RGD:1346613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15795599 12230964 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:13619 extrahepatic cholestasis treatment ISO RGD:727915 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:29360226|REF_RGD_ID:14995480 12230964 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:1936 atherosclerosis ISO RGD:1346613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11166758|PMID:19801147 12230964 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1346613 D RGD:7240710 20180130 OMIM 12230964 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1346613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cholestanol storage disease PMID:10206677|PMID:10406988|PMID:10430841|PMID:10519880|PMID:10741487|PMID:10775536|PMID:11181744|PMID:11313766|PMID:11737215|PMID:11903362|PMID:12000359|PMID:12270007|PMID:12555943|PMID:12933951|PMID:14741198|PMID:14999499|PMID:15795599|PMID:16157755|PMID:16199547|PMID:16278884|PMID:16816916|PMID:17030721|PMID:17319284|PMID:17444890|PMID:17576681|PMID:17697869|PMID:18227423|PMID:18414213|PMID:19092443|PMID:19204079|PMID:19373932|PMID:2019602|PMID:20301583|PMID:20402754|PMID:20450308|PMID:20558929|PMID:20602799|PMID:20925952|PMID:20981092|PMID:21073839|PMID:21228398|PMID:21345536|PMID:21404287|PMID:21553098|PMID:21627786|PMID:21645175|PMID:21764626|PMID:21955034|PMID:21958693|PMID:21966169|PMID:22197981|PMID:22336472|PMID:22849591|PMID:22878431|PMID:23212406|PMID:23287330|PMID:23659550|PMID:24002088|PMID:24033266|PMID:24080357|PMID:24174808|PMID:24584636|PMID:24627108|PMID:24746394|PMID:25112387|PMID:25447658|PMID:25525159|PMID:25558065|PMID:25741868|PMID:25862734|PMID:25941960|PMID:25983621|PMID:26156051|PMID:26206375|PMID:26467025|PMID:26519892|PMID:26622071|PMID:26643207|PMID:26861945|PMID:26906304|PMID:26937392|PMID:27084087|PMID:27142713|PMID:27225395|PMID:27455001|PMID:27535533|PMID:27678445|PMID:27680221|PMID:27858369|PMID:27878435|PMID:27879219|PMID:27884173|PMID:28324197|PMID:28337550|PMID:28492532|PMID:28590052|PMID:28623566|PMID:28749476|PMID:28894950|PMID:28937538|PMID:29095540|PMID:29242796|PMID:29269672|PMID:29321515|PMID:29434128|PMID:30366773|PMID:31450232|PMID:31743419|PMID:31796091|PMID:32523054|PMID:32581172|PMID:32714376|PMID:33313117|PMID:33400472|PMID:33414089|PMID:33624863|PMID:33830582|PMID:34012265|PMID:34145886|PMID:34930075|PMID:7697869|PMID:7860076|PMID:7915755|PMID:8006521|PMID:8014582|PMID:8309576|PMID:8514861|PMID:8730343|PMID:8827518|PMID:8931710|PMID:8950197|PMID:9008528|PMID:9186905|PMID:9254865|PMID:9392430|PMID:9521761|PMID:9536098|PMID:9548584|PMID:9654207|PMID:9790667 12230964 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:5082 liver cirrhosis ISO RGD:1346613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 12230964 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:543 dystonia ISO RGD:1346613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Regression of motor development with severe dystonia and corresponding basal ganglia lesions PMID:25558065|PMID:25741868|PMID:26643207|PMID:28492532 12230964 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1346613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10775536|PMID:12000359|PMID:25558065|PMID:25741868|PMID:26467025|PMID:26643207|PMID:26937392|PMID:28492532|PMID:32581172|PMID:9392430 12230964 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1346613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 12230964 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12230964 CYP27A1 cytochrome P450 family 27 subfamily A member 1 gene DOID:905 Zellweger syndrome ISO RGD:1550475 D RGD:9068941 20200609 RGD PMID:14673138|REF_RGD_ID:13782195 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349422 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0050476 Barth syndrome ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0050781 Ogden syndrome ISO RGD:1349422 D RGD:7240710 20180130 OMIM 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0050781 Ogden syndrome ISO RGD:1349422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ogden syndrome PMID:18414213|PMID:21700266|PMID:23020937|PMID:25099252|PMID:25326635|PMID:25489052|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28327206|PMID:28492532|PMID:28708303|PMID:29558889|PMID:29957440|PMID:31127942|PMID:31174490|PMID:34200686|PMID:35039925 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0050800 creatine transporter deficiency ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0060165 Kleine-Levin syndrome ISO RGD:1349422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kleine-Levin syndrome 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111799 syndromic microphthalmia 1 ISO RGD:1349422 D RGD:7240710 20180130 OMIM 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111799 syndromic microphthalmia 1 ISO RGD:1349422 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microphthalmia, syndromic 1 PMID:11426460|PMID:16114045|PMID:1679229|PMID:24033266|PMID:24431331|PMID:25741868|PMID:28492532|PMID:30842225 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349422 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0112003 immunodeficiency 33 ISO RGD:1349422 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:10588 adrenoleukodystrophy ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:1059 intellectual disability ISO RGD:1349422 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:18414213|PMID:24033266|PMID:25741868|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:34200686|PMID:35039925 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:12849 autistic disorder ISO RGD:1349422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:13628 favism ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:2729 dyskeratosis congenita ISO RGD:1349422 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:3910 lung adenocarcinoma ISO RGD:1349422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:607 paraplegia ISO RGD:1349422 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:630 genetic disease ISO RGD:1349422 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:34200686 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9002720 Splenomegaly ISO RGD:1349422 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24033266|PMID:25741868 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 12230976 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9006205 Animal Disease Models ISO RGD:1349422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12230991 PPP1R14A protein phosphatase 1 regulatory inhibitor subunit 14A gene DOID:10534 stomach cancer severity ISO RGD:733523 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 12230991 PPP1R14A protein phosphatase 1 regulatory inhibitor subunit 14A gene DOID:630 genetic disease ISO RGD:733523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12230991 PPP1R14A protein phosphatase 1 regulatory inhibitor subunit 14A gene DOID:9003566 Mesothelioma ISO RGD:733523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18835652 12230991 PPP1R14A protein phosphatase 1 regulatory inhibitor subunit 14A gene DOID:9008443 Colorectal Neoplasms ISO RGD:733523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 12231009 ZNF432 zinc finger protein 432 gene DOID:630 genetic disease ISO RGD:1350152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12231009 ZNF432 zinc finger protein 432 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 12231009 ZNF432 zinc finger protein 432 gene DOID:9008939 Breast Neoplasms ISO RGD:1350152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 12231027 CFB complement factor B gene DOID:0050127 sinusitis ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:14510109|REF_RGD_ID:7411729 12231027 CFB complement factor B gene DOID:0050553 JMP syndrome ISO RGD:1350557 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12231027 CFB complement factor B gene DOID:0060295 complement component 2 deficiency ISO RGD:1350557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: C2 deficiency | ClinVar Annotator: match by term: Complement component 2 deficiency PMID:16518403|PMID:16936732|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:23847193|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962 12231027 CFB complement factor B gene DOID:0080162 lupus nephritis ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:10623824|PMID:3183062|REF_RGD_ID:7242736|REF_RGD_ID:7242763 12231027 CFB complement factor B gene DOID:0080162 lupus nephritis ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:21893562|REF_RGD_ID:7242755 12231027 CFB complement factor B gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1350557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:16518403|PMID:16936732|PMID:17182750|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:23847193|PMID:24033266|PMID:24652797|PMID:25741868|PMID:26054779|PMID:28492532|PMID:6308626|PMID:7452889|PMID:8181962 12231027 CFB complement factor B gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1350557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:1577763|PMID:16199547|PMID:16518403|PMID:16936732|PMID:17182750|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:23847193|PMID:24033266|PMID:24652797|PMID:25741868|PMID:26054779|PMID:26283675|PMID:26826462|PMID:27268256|PMID:27870017|PMID:28461395|PMID:28492532|PMID:28682564|PMID:29148534|PMID:29563339|PMID:34169201|PMID:34177949|PMID:6308626|PMID:7452889|PMID:8181962|PMID:9616367 12231027 CFB complement factor B gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1350557 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:15661753|PMID:1577763|PMID:16199547|PMID:16518403|PMID:16936732|PMID:17182750|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:23847193|PMID:24033266|PMID:24652797|PMID:25741868|PMID:26054779|PMID:26283675|PMID:26826462|PMID:27268256|PMID:27870017|PMID:28461395|PMID:28492532|PMID:28682564|PMID:29148534|PMID:29563339|PMID:34169201|PMID:34177949|PMID:6308626|PMID:7452889|PMID:8181962|PMID:9616367 12231027 CFB complement factor B gene DOID:0080301 atypical hemolytic-uremic syndrome susceptibility ISO RGD:1350557 D RGD:7240710 20230517 OMIM 12231027 CFB complement factor B gene DOID:0080322 polycystic kidney disease treatment ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:24494798|REF_RGD_ID:8661641 12231027 CFB complement factor B gene DOID:0080322 polycystic kidney disease treatment ISO RGD:2204 D RGD:9068941 20200609 RGD PMID:24494798|REF_RGD_ID:8661641 12231027 CFB complement factor B gene DOID:0080750 erythema nodosum ISO RGD:1350557 D RGD:9068941 20200609 RGD associated with Leprosy PMID:2783924|REF_RGD_ID:7421527 12231027 CFB complement factor B gene DOID:0110019 age related macular degeneration 7 no_association ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L9H, p.R32L (rs4151667, rs641153) (human) PMID:19899988|REF_RGD_ID:7401252 12231027 CFB complement factor B gene DOID:0110026 age related macular degeneration 14 ISO RGD:1350557 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 14 PMID:16518403|PMID:16936732|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962 12231027 CFB complement factor B gene DOID:0110026 age related macular degeneration 14 susceptibility ISO RGD:1350557 D RGD:7240710 20230517 OMIM 12231027 CFB complement factor B gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1350557 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:16518403|PMID:16936732|PMID:18806293|PMID:21541267|PMID:2249879|PMID:24033266|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962 12231027 CFB complement factor B gene DOID:10754 otitis media ISO RGD:10236 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections PMID:20065024|REF_RGD_ID:7411716 12231027 CFB complement factor B gene DOID:10887 lepromatous leprosy severity ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:6342123|REF_RGD_ID:7411735 12231027 CFB complement factor B gene DOID:10923 sickle cell anemia ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:10440069|REF_RGD_ID:11041159 12231027 CFB complement factor B gene DOID:10923 sickle cell anemia ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:decreased activity PMID:12793071|REF_RGD_ID:11041160 12231027 CFB complement factor B gene DOID:10976 membranous glomerulonephritis susceptibility ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:3272818|REF_RGD_ID:7242764 12231027 CFB complement factor B gene DOID:11400 pyelonephritis ISO RGD:1350557 D RGD:9068941 20200609 RGD associated with pregnancy complications;protein:increased activity:plasma PMID:20218820|REF_RGD_ID:7242756 12231027 CFB complement factor B gene DOID:12134 factor VIII deficiency ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:6912882|REF_RGD_ID:11041156 12231027 CFB complement factor B gene DOID:12241 beta thalassemia ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:6914868|REF_RGD_ID:11041572 12231027 CFB complement factor B gene DOID:1227 neutropenia ISO RGD:1350557 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 12231027 CFB complement factor B gene DOID:12662 paracoccidioidomycosis ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:7921333|REF_RGD_ID:7421526 12231027 CFB complement factor B gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1350557 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:16518403|PMID:16936732|PMID:18806293|PMID:21541267|PMID:2249879|PMID:24033266|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962 12231027 CFB complement factor B gene DOID:13241 Behcet's disease ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:6900632|REF_RGD_ID:7411737 12231027 CFB complement factor B gene DOID:1407 anterior uveitis ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:6610667|REF_RGD_ID:7411736 12231027 CFB complement factor B gene DOID:1407 anterior uveitis ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:SNP: :rs1048709 (human) PMID:22714898|REF_RGD_ID:7411695 12231027 CFB complement factor B gene DOID:1407 anterior uveitis no_association ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:SNP: :rs537160, rs4151657, rs2072633 (human) PMID:22714898|REF_RGD_ID:7411695 12231027 CFB complement factor B gene DOID:14095 boutonneuse fever ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:3361150|REF_RGD_ID:11041575 12231027 CFB complement factor B gene DOID:1612 breast cancer treatment ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:15274022|REF_RGD_ID:7411730 12231027 CFB complement factor B gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:12091909|REF_RGD_ID:734771 12231027 CFB complement factor B gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:2329415|REF_RGD_ID:7242760 12231027 CFB complement factor B gene DOID:2986 IgA glomerulonephritis ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:3118258|REF_RGD_ID:7242754 12231027 CFB complement factor B gene DOID:2986 IgA glomerulonephritis ISO RGD:1350557 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:8567024|REF_RGD_ID:7242737 12231027 CFB complement factor B gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17385664|REF_RGD_ID:7242759 12231027 CFB complement factor B gene DOID:418 systemic scleroderma ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:2803327|REF_RGD_ID:7421518 12231027 CFB complement factor B gene DOID:437 myasthenia gravis ISO RGD:1350557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6605118 12231027 CFB complement factor B gene DOID:4448 macular degeneration ISO RGD:1350557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:1577763|PMID:16199547|PMID:16518403|PMID:16936732|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:23847193|PMID:24033266|PMID:24652797|PMID:25741868|PMID:26054779|PMID:26283675|PMID:26826462|PMID:27268256|PMID:27870017|PMID:28461395|PMID:28492532|PMID:28682564|PMID:29148534|PMID:29563339|PMID:34169201|PMID:34177949|PMID:6308626|PMID:8181962|PMID:9616367 12231027 CFB complement factor B gene DOID:4448 macular degeneration no_association ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:18806293|REF_RGD_ID:7411713 12231027 CFB complement factor B gene DOID:4448 macular degeneration no_association ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L9H, p.R32Q (rs4151667, rs641153) (human) PMID:22273503|REF_RGD_ID:7411731 12231027 CFB complement factor B gene DOID:4448 macular degeneration susceptibility ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:snp:intron:c.1169-69T>C (rs541862) (human) PMID:22232432|REF_RGD_ID:7411694 12231027 CFB complement factor B gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:22492944|REF_RGD_ID:7242700 12231027 CFB complement factor B gene DOID:557 kidney disease ISO RGD:1350557 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:23847193|PMID:24652797|PMID:25741868|PMID:28492532 12231027 CFB complement factor B gene DOID:6195 conjunctivitis ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:increased expression:tear PMID:3875643|REF_RGD_ID:7421524 12231027 CFB complement factor B gene DOID:630 genetic disease ISO RGD:1350557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12231027 CFB complement factor B gene DOID:783 end stage renal disease ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:17522263|REF_RGD_ID:7242704 12231027 CFB complement factor B gene DOID:783 end stage renal disease severity ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:1837062|REF_RGD_ID:7242753 12231027 CFB complement factor B gene DOID:8466 retinal degeneration treatment ISO RGD:2204 D RGD:9068941 20200609 RGD PMID:21467172|REF_RGD_ID:7364947 12231027 CFB complement factor B gene DOID:8506 bullous pemphigoid ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:17024247|REF_RGD_ID:7421522 12231027 CFB complement factor B gene DOID:8577 ulcerative colitis ISO RGD:1350557 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 12231027 CFB complement factor B gene DOID:8893 psoriasis ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:6559061|REF_RGD_ID:7411727 12231027 CFB complement factor B gene DOID:8893 psoriasis no_association ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:2609873|REF_RGD_ID:7421520 12231027 CFB complement factor B gene DOID:8947 diabetic retinopathy ISO RGD:1350557 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs1048709 (human) PMID:23864767|REF_RGD_ID:7365019 12231027 CFB complement factor B gene DOID:8947 diabetic retinopathy no_association ISO RGD:1350557 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs537160, rs4151657, rs2072633 (human) PMID:23864767|REF_RGD_ID:7365019 12231027 CFB complement factor B gene DOID:898 autosomal dominant polycystic kidney disease disease_progression ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:24494798|REF_RGD_ID:8661641 12231027 CFB complement factor B gene DOID:9000998 Brain Injuries ISO RGD:1350557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17474994 12231027 CFB complement factor B gene DOID:9001044 Choroidal Neovascularization ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:16849499|REF_RGD_ID:7411733 12231027 CFB complement factor B gene DOID:9004484 Sepsis treatment ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:24154627|REF_RGD_ID:11040886 12231027 CFB complement factor B gene DOID:9005169 Complement Factor B Deficiency ISO RGD:1350557 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Complement factor B deficiency | ClinVar Annotator: match by term: Complement factor b deficiency PMID:16518403|PMID:16936732|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:23847193|PMID:24033266|PMID:24152280|PMID:24652797|PMID:25741868|PMID:28492532 12231027 CFB complement factor B gene DOID:9005169 Complement Factor B Deficiency susceptibility ISO RGD:1350557 D RGD:7240710 20230517 OMIM 12231027 CFB complement factor B gene DOID:9005969 Refractory Anemia with Excess of Blasts disease_progression ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:9741227|REF_RGD_ID:11041158 12231027 CFB complement factor B gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:12538716|PMID:16467447|REF_RGD_ID:7242709|REF_RGD_ID:7242734 12231027 CFB complement factor B gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:2204 D RGD:9068941 20200609 RGD PMID:21216963|REF_RGD_ID:7411732 12231027 CFB complement factor B gene DOID:9006642 Experimental Autoimmune Uveoretinitis treatment ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:20806290|REF_RGD_ID:7411717 12231027 CFB complement factor B gene DOID:9007189 Multifocal Choroiditis no_association ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L9H, p.R32Q (rs4151667, rs641153) (human) PMID:19001225|REF_RGD_ID:7411728 12231027 CFB complement factor B gene DOID:9008261 Chemically-Induced Disorders ISO RGD:1350557 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 12231027 CFB complement factor B gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis treatment ISO RGD:2204 D RGD:9068941 20200609 RGD PMID:25355917|REF_RGD_ID:11041161 12231027 CFB complement factor B gene DOID:9008366 Meningococcal Infections severity ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:3491693|REF_RGD_ID:11041157 12231027 CFB complement factor B gene DOID:9008537 Polypoidal Choroidal Vasculopathy susceptibility ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:snp:intron:c.1169-69T>C (rs541862) (human) PMID:22232432|REF_RGD_ID:7411694 12231027 CFB complement factor B gene DOID:9074 systemic lupus erythematosus ISO RGD:1350557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838195 12231027 CFB complement factor B gene DOID:9744 type 1 diabetes mellitus ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:19000152|REF_RGD_ID:2311335 12231027 CFB complement factor B gene DOID:9744 type 1 diabetes mellitus ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:3907907|REF_RGD_ID:2311338 12231027 CFB complement factor B gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:missense mutation:p.R32Q b(human) PMID:6958349|REF_RGD_ID:11041155 12231049 PROB1 proline rich basic protein 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:5486560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12231049 PROB1 proline rich basic protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:5486560 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12231049 PROB1 proline rich basic protein 1 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:5486560 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12231049 PROB1 proline rich basic protein 1 gene DOID:630 genetic disease ISO RGD:5486560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12231049 PROB1 proline rich basic protein 1 gene DOID:9003318 Keratoconus 1 ISO RGD:5486560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 1 12231049 PROB1 proline rich basic protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:5486560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12231049 PROB1 proline rich basic protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:5486560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12231049 PROB1 proline rich basic protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:5486560 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12231054 USP31 ubiquitin specific peptidase 31 gene DOID:10003 sensorineural hearing loss ISO RGD:1317813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 12231054 USP31 ubiquitin specific peptidase 31 gene DOID:630 genetic disease ISO RGD:1317813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12231135 PDE6D phosphodiesterase 6D gene DOID:0060476 Perlman syndrome ISO RGD:1314689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12231135 PDE6D phosphodiesterase 6D gene DOID:0110991 Joubert syndrome 22 ISO RGD:1314689 D RGD:7240710 20180130 OMIM 12231135 PDE6D phosphodiesterase 6D gene DOID:0110991 Joubert syndrome 22 ISO RGD:1314689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:17496142|PMID:17576681|PMID:24166846|PMID:25741868|PMID:28492532|PMID:30423442|PMID:9536098 12231135 PDE6D phosphodiesterase 6D gene DOID:630 genetic disease ISO RGD:1314689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12231144 DIP2B disco interacting protein 2 homolog B gene DOID:0060041 autism spectrum disorder ISO RGD:1605978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12231144 DIP2B disco interacting protein 2 homolog B gene DOID:0070309 absence epilepsy ISO RGD:1605978 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Absence seizures PMID:25741868 12231144 DIP2B disco interacting protein 2 homolog B gene DOID:630 genetic disease ISO RGD:1605978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12231144 DIP2B disco interacting protein 2 homolog B gene DOID:9005790 Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type ISO RGD:1605978 D RGD:7240710 20180130 OMIM 12231144 DIP2B disco interacting protein 2 homolog B gene DOID:9005790 Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type ISO RGD:1605978 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability, FRA12A type PMID:17236128|PMID:25741868 12231144 DIP2B disco interacting protein 2 homolog B gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1605978 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 12231194 CNTNAP4 contactin associated protein family member 4 gene DOID:630 genetic disease ISO RGD:1315089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12231194 CNTNAP4 contactin associated protein family member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1315089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12231222 CBY3 chibby family member 3 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1605449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 12231222 CBY3 chibby family member 3 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1605449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12231222 CBY3 chibby family member 3 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1605449 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12231222 CBY3 chibby family member 3 gene DOID:630 genetic disease ISO RGD:1605449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12231228 PTPRN2 protein tyrosine phosphatase receptor type N2 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1349626 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 12231228 PTPRN2 protein tyrosine phosphatase receptor type N2 gene DOID:10283 prostate cancer ISO RGD:1349626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12231228 PTPRN2 protein tyrosine phosphatase receptor type N2 gene DOID:11716 prediabetes syndrome ISO RGD:1349626 D RGD:9068941 20200609 RGD PMID:15004204|REF_RGD_ID:2311683 12231228 PTPRN2 protein tyrosine phosphatase receptor type N2 gene DOID:12849 autistic disorder ISO RGD:1349626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12231228 PTPRN2 protein tyrosine phosphatase receptor type N2 gene DOID:630 genetic disease ISO RGD:1349626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12231228 PTPRN2 protein tyrosine phosphatase receptor type N2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1349626 D RGD:9068941 20200609 RGD PMID:18193190|REF_RGD_ID:2311682 12231228 PTPRN2 protein tyrosine phosphatase receptor type N2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:62197 D RGD:9068941 20200609 RGD PMID:12419281|REF_RGD_ID:2311684 12231228 PTPRN2 protein tyrosine phosphatase receptor type N2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:62197 D RGD:9068941 20220825 MouseDO OMIM:222100 12231291 CDH8 cadherin 8 gene DOID:630 genetic disease ISO RGD:735375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12231310 ABCB7 ATP binding cassette subfamily B member 7 gene DOID:0050554 X-linked sideroblastic anemia with ataxia ISO RGD:1351480 D RGD:7240710 20180130 OMIM 12231310 ABCB7 ATP binding cassette subfamily B member 7 gene DOID:0050554 X-linked sideroblastic anemia with ataxia ISO RGD:1351480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia PMID:10196363|PMID:11050011|PMID:11843825|PMID:17576681|PMID:22398176|PMID:25741868|PMID:28492532|PMID:4045952|PMID:9536098 12231310 ABCB7 ATP binding cassette subfamily B member 7 gene DOID:0050554 X-linked sideroblastic anemia with ataxia susceptibility ISO RGD:1351480 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.I400M (human) PMID:10196363|REF_RGD_ID:1598600 12231310 ABCB7 ATP binding cassette subfamily B member 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12231310 ABCB7 ATP binding cassette subfamily B member 7 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:1351480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked PMID:26242992 12231310 ABCB7 ATP binding cassette subfamily B member 7 gene DOID:12849 autistic disorder ISO RGD:1351480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12231310 ABCB7 ATP binding cassette subfamily B member 7 gene DOID:630 genetic disease ISO RGD:1351480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26242992 12231310 ABCB7 ATP binding cassette subfamily B member 7 gene DOID:8955 sideroblastic anemia ISO RGD:1351480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16892088|PMID:18637800 12231310 ABCB7 ATP binding cassette subfamily B member 7 gene DOID:8955 sideroblastic anemia ISO RGD:1351480 D RGD:9068941 20200609 RGD PMID:18398482|REF_RGD_ID:11038732 12231310 ABCB7 ATP binding cassette subfamily B member 7 gene DOID:9004866 Ataxia ISO RGD:1351480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16892088 12231334 ZNF275 zinc finger protein 275 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:30306898 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12231334 ZNF275 zinc finger protein 275 gene DOID:0050476 Barth syndrome ISO RGD:30306898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12231334 ZNF275 zinc finger protein 275 gene DOID:0050800 creatine transporter deficiency ISO RGD:30306898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12231334 ZNF275 zinc finger protein 275 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:30306898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12231334 ZNF275 zinc finger protein 275 gene DOID:10588 adrenoleukodystrophy ISO RGD:30306898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12231334 ZNF275 zinc finger protein 275 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:30306898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12231334 ZNF275 zinc finger protein 275 gene DOID:12849 autistic disorder ISO RGD:30306898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12231334 ZNF275 zinc finger protein 275 gene DOID:13628 favism ISO RGD:30306898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12231334 ZNF275 zinc finger protein 275 gene DOID:2729 dyskeratosis congenita ISO RGD:30306898 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12231334 ZNF275 zinc finger protein 275 gene DOID:607 paraplegia ISO RGD:30306898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12231334 ZNF275 zinc finger protein 275 gene DOID:630 genetic disease ISO RGD:30306898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12231343 ACOT13 acyl-CoA thioesterase 13 gene DOID:630 genetic disease ISO RGD:1315172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12231361 C20H3orf20 chromosome 20 C3orf20 homolog gene DOID:0060417 3p deletion syndrome ISO RGD:1343380 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12231361 C20H3orf20 chromosome 20 C3orf20 homolog gene DOID:630 genetic disease ISO RGD:1343380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12231433 CGA glycoprotein hormones, alpha polypeptide gene DOID:0060224 atrial fibrillation ISO RGD:1348590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12231433 CGA glycoprotein hormones, alpha polypeptide gene DOID:10286 prostate carcinoma ISO RGD:1348590 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:12180238|REF_RGD_ID:2293634 12231433 CGA glycoprotein hormones, alpha polypeptide gene DOID:10969 hemiplegia ISO RGD:1348590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10566621 12231433 CGA glycoprotein hormones, alpha polypeptide gene DOID:1100 ovarian disease ISO RGD:1348590 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20146381 12231433 CGA glycoprotein hormones, alpha polypeptide gene DOID:14228 oligospermia ISO RGD:1348590 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16483355 12231433 CGA glycoprotein hormones, alpha polypeptide gene DOID:1612 breast cancer disease_progression ISO RGD:1348590 D RGD:9068941 20200609 RGD PMID:11687975|REF_RGD_ID:2293635 12231433 CGA glycoprotein hormones, alpha polypeptide gene DOID:2696 Leydig cell tumor ISO RGD:1348590 D RGD:9068941 20200609 RGD PMID:16007123|REF_RGD_ID:2293633 12231433 CGA glycoprotein hormones, alpha polypeptide gene DOID:345 uterine disease ISO RGD:1348590 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20146381 12231433 CGA glycoprotein hormones, alpha polypeptide gene DOID:9000918 Disease Progression ISO RGD:1348590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10566621 12231433 CGA glycoprotein hormones, alpha polypeptide gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348590 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:serum PMID:6768680|REF_RGD_ID:2293637 12231433 CGA glycoprotein hormones, alpha polypeptide gene DOID:9005147 Hydatidiform Mole ISO RGD:1348590 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:2473429|REF_RGD_ID:2293636 12231433 CGA glycoprotein hormones, alpha polypeptide gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:1348590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10566621 12231433 CGA glycoprotein hormones, alpha polypeptide gene DOID:9553 adrenal gland disease ISO RGD:1348590 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20146381 12231445 PPP1CA protein phosphatase 1 catalytic subunit alpha gene DOID:1059 intellectual disability ISO RGD:732541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12231445 PPP1CA protein phosphatase 1 catalytic subunit alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:11132 D RGD:9068941 20200609 RGD PMID:12024026|REF_RGD_ID:737728 12231445 PPP1CA protein phosphatase 1 catalytic subunit alpha gene DOID:6000 congestive heart failure ISO RGD:11132 D RGD:9068941 20200609 RGD PMID:12024026|REF_RGD_ID:737728 12231445 PPP1CA protein phosphatase 1 catalytic subunit alpha gene DOID:630 genetic disease ISO RGD:732541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12231445 PPP1CA protein phosphatase 1 catalytic subunit alpha gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:732541 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12231445 PPP1CA protein phosphatase 1 catalytic subunit alpha gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:732541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12231456 SLC30A3 solute carrier family 30 member 3 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1346114 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12231456 SLC30A3 solute carrier family 30 member 3 gene DOID:630 genetic disease ISO RGD:1346114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12231456 SLC30A3 solute carrier family 30 member 3 gene DOID:9007956 Febrile Seizures ISO RGD:1346114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Febrile seizures 12231468 CHORDC1 cysteine and histidine rich domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1312263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12231468 CHORDC1 cysteine and histidine rich domain containing 1 gene DOID:630 genetic disease ISO RGD:1312263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12231468 CHORDC1 cysteine and histidine rich domain containing 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:1312264 D RGD:9068941 20220825 MouseDO OMIM:608232 12231468 CHORDC1 cysteine and histidine rich domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12231483 EPHX2 epoxide hydrolase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:731054 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:30890645|PMID:35663546 12231483 EPHX2 epoxide hydrolase 2 gene DOID:0060319 cardiac arrest ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:17728042|REF_RGD_ID:5688386 12231483 EPHX2 epoxide hydrolase 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:731054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12231483 EPHX2 epoxide hydrolase 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:731054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12231483 EPHX2 epoxide hydrolase 2 gene DOID:10763 hypertension ISO RGD:620732 D RGD:9068941 20200609 RGD PMID:16157792|PMID:21720266|REF_RGD_ID:1580985|REF_RGD_ID:5688733 12231483 EPHX2 epoxide hydrolase 2 gene DOID:10763 hypertension ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:11001943|PMID:19553349|REF_RGD_ID:1580987|REF_RGD_ID:5688730 12231483 EPHX2 epoxide hydrolase 2 gene DOID:10763 hypertension susceptibility ISO RGD:731054 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.K55R (human) PMID:20065888|REF_RGD_ID:5688727 12231483 EPHX2 epoxide hydrolase 2 gene DOID:13810 familial hypercholesterolemia ISO RGD:731054 D RGD:7240710 20180130 OMIM 12231483 EPHX2 epoxide hydrolase 2 gene DOID:13810 familial hypercholesterolemia ISO RGD:731054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10862610|PMID:12522687|PMID:14673705|PMID:14732757|PMID:15845398|PMID:25741868 12231483 EPHX2 epoxide hydrolase 2 gene DOID:14330 Parkinson's disease no_association ISO RGD:731054 D RGD:9068941 20200609 RGD DNA:missense mutation, insertion:exons:p.R287Q (898G>A), p.S402_R403insR (1246_1247insTCG) (human) PMID:11692079|REF_RGD_ID:5688390 12231483 EPHX2 epoxide hydrolase 2 gene DOID:1936 atherosclerosis ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:20224052|REF_RGD_ID:5688357 12231483 EPHX2 epoxide hydrolase 2 gene DOID:3021 acute kidney failure ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26165641 12231483 EPHX2 epoxide hydrolase 2 gene DOID:3393 coronary artery disease ISO RGD:731054 D RGD:9068941 20200609 RGD PMID:14732757|REF_RGD_ID:1580982 12231483 EPHX2 epoxide hydrolase 2 gene DOID:3526 cerebral infarction ISO RGD:620732 D RGD:9068941 20200609 RGD PMID:16306811|REF_RGD_ID:1580986 12231483 EPHX2 epoxide hydrolase 2 gene DOID:5419 schizophrenia ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30890645 12231483 EPHX2 epoxide hydrolase 2 gene DOID:5844 myocardial infarction ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:19716829|REF_RGD_ID:5688358 12231483 EPHX2 epoxide hydrolase 2 gene DOID:6000 congestive heart failure ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18443590 12231483 EPHX2 epoxide hydrolase 2 gene DOID:630 genetic disease ISO RGD:731054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12231483 EPHX2 epoxide hydrolase 2 gene DOID:6432 pulmonary hypertension ISO RGD:620732 D RGD:9068941 20200609 RGD PMID:19226702|REF_RGD_ID:5688731 12231483 EPHX2 epoxide hydrolase 2 gene DOID:783 end stage renal disease disease_progression ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:20694143|REF_RGD_ID:5688726 12231483 EPHX2 epoxide hydrolase 2 gene DOID:9000146 Plaque, Atherosclerotic susceptibility ISO RGD:731054 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:exon, intron:p.R287Q, IVS11-883C>G (rs751141, rs721619) (human) PMID:16545818|REF_RGD_ID:5688389 12231483 EPHX2 epoxide hydrolase 2 gene DOID:9000528 Coronary Disease ISO RGD:731054 D RGD:9068941 20200609 RGD PMID:16595607|REF_RGD_ID:1580981 12231483 EPHX2 epoxide hydrolase 2 gene DOID:9000998 Brain Injuries ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:21075124|REF_RGD_ID:5688356 12231483 EPHX2 epoxide hydrolase 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19834332 12231483 EPHX2 epoxide hydrolase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:731055 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21832210|REF_RGD_ID:5688728 12231483 EPHX2 epoxide hydrolase 2 gene DOID:9002211 Hyperalgesia ISO RGD:620732 D RGD:9068941 20200609 RGD PMID:16962614|REF_RGD_ID:5688387 12231483 EPHX2 epoxide hydrolase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:19471280|REF_RGD_ID:5688359 12231483 EPHX2 epoxide hydrolase 2 gene DOID:9004610 Acute Lung Injury ISO RGD:620732 D RGD:9068941 20200609 RGD PMID:22051199|REF_RGD_ID:5688354 12231483 EPHX2 epoxide hydrolase 2 gene DOID:9005930 Endotoxemia ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:19154430|REF_RGD_ID:5688360 12231483 EPHX2 epoxide hydrolase 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:620732 D RGD:9068941 20200609 RGD PMID:22007192|REF_RGD_ID:5688391 12231483 EPHX2 epoxide hydrolase 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26165641 12231483 EPHX2 epoxide hydrolase 2 gene DOID:9007096 Stroke ISO RGD:620732 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:-255T>C, -111G>A, 25C>T (rat) PMID:18086949|REF_RGD_ID:5688363 12231483 EPHX2 epoxide hydrolase 2 gene DOID:9007096 Stroke susceptibility ISO RGD:731054 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS16 (rs2291635) (human) PMID:18323494|REF_RGD_ID:5688362 12231483 EPHX2 epoxide hydrolase 2 gene DOID:9007096 Stroke susceptibility ISO RGD:731054 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.K55R (human) PMID:20065888|REF_RGD_ID:5688727 12231483 EPHX2 epoxide hydrolase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29298899 12231483 EPHX2 epoxide hydrolase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19834332 12231506 SLC38A1 solute carrier family 38 member 1 gene DOID:11832 visual epilepsy ISO RGD:69645 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:21138736|REF_RGD_ID:9999229 12231506 SLC38A1 solute carrier family 38 member 1 gene DOID:630 genetic disease ISO RGD:735316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12231506 SLC38A1 solute carrier family 38 member 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:735316 D RGD:9068941 20220224 RGD PMID:26389641|REF_RGD_ID:151361140 12231506 SLC38A1 solute carrier family 38 member 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735316 D RGD:9068941 20220224 RGD PMID:26389641|REF_RGD_ID:151361140 12231537 UBE2D3 ubiquitin conjugating enzyme E2 D3 gene DOID:3633 beta-mannosidosis ISO RGD:1344235 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 12231549 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha gene DOID:0112147 retinitis pigmentosa 90 ISO RGD:733177 D RGD:7240710 20200930 OMIM 12231549 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha gene DOID:0112147 retinitis pigmentosa 90 ISO RGD:733177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 90 PMID:25741868|PMID:28058510|PMID:28412069|PMID:28492532|PMID:30058936|PMID:31012789|PMID:31456290 12231549 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha gene DOID:10584 retinitis pigmentosa ISO RGD:733177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28058510|PMID:28412069|PMID:28492532|PMID:31456290 12231549 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha gene DOID:2717 Bloom syndrome ISO RGD:733177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12231549 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha gene DOID:630 genetic disease ISO RGD:733177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12231549 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha gene DOID:8398 osteoarthritis ISO RGD:733177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12231549 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha gene DOID:9256 colorectal cancer ISO RGD:733177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12231570 KMT2A lysine methyltransferase 2A gene DOID:0060017 CD3epsilon deficiency ISO RGD:1347719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12231570 KMT2A lysine methyltransferase 2A gene DOID:0060041 autism spectrum disorder ISO RGD:1347719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 12231570 KMT2A lysine methyltransferase 2A gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1347719 D RGD:9068941 20200609 RGD DNA:rearrangements PMID:8361504|REF_RGD_ID:1625285 12231570 KMT2A lysine methyltransferase 2A gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1347719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12231570 KMT2A lysine methyltransferase 2A gene DOID:0070052 autosomal dominant intellectual developmental disorder 22 ISO RGD:1347719 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 22 PMID:25741868 12231570 KMT2A lysine methyltransferase 2A gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:25574841 12231570 KMT2A lysine methyltransferase 2A gene DOID:0080690 RASopathy ISO RGD:1347719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12231570 KMT2A lysine methyltransferase 2A gene DOID:0081082 acute myelomonocytic leukemia ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8282816 12231570 KMT2A lysine methyltransferase 2A gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1347719 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:25741868|PMID:29255178 12231570 KMT2A lysine methyltransferase 2A gene DOID:0081330 glycogen storage disease Ib ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12231570 KMT2A lysine methyltransferase 2A gene DOID:0110651 long QT syndrome 10 ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12231570 KMT2A lysine methyltransferase 2A gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1347719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12231570 KMT2A lysine methyltransferase 2A gene DOID:0111971 immunodeficiency 18 ISO RGD:1347719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12231570 KMT2A lysine methyltransferase 2A gene DOID:0111972 immunodeficiency 19 ISO RGD:1347719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12231570 KMT2A lysine methyltransferase 2A gene DOID:0111973 immunodeficiency 17 ISO RGD:1347719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12231570 KMT2A lysine methyltransferase 2A gene DOID:10283 prostate cancer ISO RGD:1347719 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland (human) PMID:24200674|REF_RGD_ID:9587761 12231570 KMT2A lysine methyltransferase 2A gene DOID:1037 lymphoid leukemia ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17463288 12231570 KMT2A lysine methyltransferase 2A gene DOID:1059 intellectual disability ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:29574747 12231570 KMT2A lysine methyltransferase 2A gene DOID:10907 microcephaly ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12231570 KMT2A lysine methyltransferase 2A gene DOID:11054 urinary bladder cancer ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 12231570 KMT2A lysine methyltransferase 2A gene DOID:1240 leukemia ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11731795|PMID:12937054 12231570 KMT2A lysine methyltransferase 2A gene DOID:12849 autistic disorder ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12231570 KMT2A lysine methyltransferase 2A gene DOID:224 transient cerebral ischemia treatment ISO RGD:1586165 D RGD:9068941 20230209 RGD PMID:34694864|REF_RGD_ID:155888565 12231570 KMT2A lysine methyltransferase 2A gene DOID:2671 transitional cell carcinoma ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 12231570 KMT2A lysine methyltransferase 2A gene DOID:299 adenocarcinoma ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 12231570 KMT2A lysine methyltransferase 2A gene DOID:3948 adrenocortical carcinoma ISO RGD:1347719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma PMID:22795537|PMID:25356970|PMID:25741868|PMID:25810209|PMID:27959697|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29574747 12231570 KMT2A lysine methyltransferase 2A gene DOID:4362 cervical cancer ISO RGD:1347719 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:22926525|REF_RGD_ID:9588221 12231570 KMT2A lysine methyltransferase 2A gene DOID:4971 myelofibrosis exacerbates ISO RGD:1347719 D RGD:9068941 20230330 RGD DNA:mutations:multiple (human) PMID:35731275|REF_RGD_ID:156420157 12231570 KMT2A lysine methyltransferase 2A gene DOID:5409 lung small cell carcinoma ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941188 12231570 KMT2A lysine methyltransferase 2A gene DOID:630 genetic disease ISO RGD:1347719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22795537|PMID:25356970|PMID:25741868|PMID:25810209|PMID:27759909|PMID:27959697|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29453417|PMID:29574747|PMID:30138938 12231570 KMT2A lysine methyltransferase 2A gene DOID:684 hepatocellular carcinoma ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22634756 12231570 KMT2A lysine methyltransferase 2A gene DOID:8692 myeloid leukemia ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17463288|PMID:8282816 12231570 KMT2A lysine methyltransferase 2A gene DOID:8864 acute monocytic leukemia ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8282816 12231570 KMT2A lysine methyltransferase 2A gene DOID:9000217 Stomach Neoplasms ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 12231570 KMT2A lysine methyltransferase 2A gene DOID:9000647 Acute Erythroleukemia ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 12231570 KMT2A lysine methyltransferase 2A gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:29255178 12231570 KMT2A lysine methyltransferase 2A gene DOID:9002112 Growth Deficiency and Mental Retardation with Facial Dysmorphism ISO RGD:1347719 D RGD:7240710 20180130 OMIM 12231570 KMT2A lysine methyltransferase 2A gene DOID:9002112 Growth Deficiency and Mental Retardation with Facial Dysmorphism ISO RGD:1347719 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Wiedemann-Steiner syndrome PMID:18414213|PMID:22795537|PMID:24088041|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25574841|PMID:25724810|PMID:25741868|PMID:25741869|PMID:25810209|PMID:26633545|PMID:26690532|PMID:27441994|PMID:27959697|PMID:28120103|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29203834|PMID:29255178|PMID:29453417|PMID:29574747|PMID:30305169|PMID:31157197|PMID:31337854|PMID:32860008|PMID:33004838|PMID:5519603 12231570 KMT2A lysine methyltransferase 2A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12231570 KMT2A lysine methyltransferase 2A gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12231570 KMT2A lysine methyltransferase 2A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12231570 KMT2A lysine methyltransferase 2A gene DOID:9004507 Hirsutism ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirsutism 12231570 KMT2A lysine methyltransferase 2A gene DOID:9004814 Chromosome Aberrations ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24736461 12231570 KMT2A lysine methyltransferase 2A gene DOID:9005985 Rubinstein Taybi like Syndrome ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rubinstein Taybi like syndrome PMID:30806792 12231570 KMT2A lysine methyltransferase 2A gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10900 D RGD:9068941 20230209 RGD protein:increased expression:kidney (mouse) PMID:31570196|REF_RGD_ID:155888490 12231570 KMT2A lysine methyltransferase 2A gene DOID:9007661 Dwarfism ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12231570 KMT2A lysine methyltransferase 2A gene DOID:9119 acute myeloid leukemia ISO RGD:10900 D RGD:9068941 20220825 MouseDO OMIM:601626 12231570 KMT2A lysine methyltransferase 2A gene DOID:9119 acute myeloid leukemia ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10339604|PMID:26237430 12231570 KMT2A lysine methyltransferase 2A gene DOID:9119 acute myeloid leukemia ISO RGD:1347719 D RGD:9068941 20200609 RGD DNA:rearrangements PMID:8361504|REF_RGD_ID:1625285 12231570 KMT2A lysine methyltransferase 2A gene DOID:9119 acute myeloid leukemia ameliorates ISO RGD:10900 D RGD:9068941 20230209 RGD PMID:26927674|REF_RGD_ID:11530086 12231570 KMT2A lysine methyltransferase 2A gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1347719 D RGD:9068941 20230209 RGD human cell line in a mouse model PMID:33542482|REF_RGD_ID:155888491 12231570 KMT2A lysine methyltransferase 2A gene DOID:93 language disorder ISO RGD:1347719 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Language disorder PMID:25741868 12231570 KMT2A lysine methyltransferase 2A gene DOID:9952 acute lymphoblastic leukemia ISO RGD:10900 D RGD:9068941 20220825 MouseDO OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 12231570 KMT2A lysine methyltransferase 2A gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24736461|PMID:25730765 12231611 CHRNE cholinergic receptor nicotinic epsilon subunit gene DOID:0050941 spastic ataxia 2 ISO RGD:734106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 12231611 CHRNE cholinergic receptor nicotinic epsilon subunit gene DOID:0110662 congenital myasthenic syndrome 1B ISO RGD:734106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 1B, fast-channel PMID:17878953|PMID:26467025|PMID:28492532|PMID:8755487 12231611 CHRNE cholinergic receptor nicotinic epsilon subunit gene DOID:0110663 congenital myasthenic syndrome 1A ISO RGD:734106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic slow-channel PMID:20301347|PMID:20562457|PMID:22678886|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29054425|PMID:29383513|PMID:9708546 12231611 CHRNE cholinergic receptor nicotinic epsilon subunit gene DOID:0110677 congenital myasthenic syndrome 4B ISO RGD:734106 D RGD:7240710 20180214 OMIM 12231611 CHRNE cholinergic receptor nicotinic epsilon subunit gene DOID:0110677 congenital myasthenic syndrome 4B ISO RGD:734106 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4B | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4b, fast-channel PMID:10211467|PMID:10382905|PMID:10496269|PMID:10514102|PMID:10534268|PMID:10962020|PMID:11030414|PMID:11960891|PMID:12417530|PMID:15322984|PMID:15367858|PMID:15951177|PMID:16087917|PMID:17878953|PMID:18414213|PMID:19064877|PMID:19544078|PMID:20301347|PMID:20562457|PMID:21175599|PMID:21940170|PMID:22592360|PMID:22678886|PMID:24033266|PMID:24295813|PMID:25326635|PMID:25741868|PMID:26467025|PMID:27634344|PMID:28024842|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29383513|PMID:31980526|PMID:8232384|PMID:8663316|PMID:8755487|PMID:8957026|PMID:9097970|PMID:9158150|PMID:9443457|PMID:9606190|PMID:9668239|PMID:9708546 12231611 CHRNE cholinergic receptor nicotinic epsilon subunit gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:734106 D RGD:7240710 20180130 OMIM 12231611 CHRNE cholinergic receptor nicotinic epsilon subunit gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:734106 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel PMID:10211467|PMID:10382905|PMID:10496269|PMID:10514102|PMID:10534268|PMID:10962020|PMID:11030414|PMID:11408331|PMID:11960891|PMID:12034803|PMID:12141316|PMID:12356851|PMID:12417530|PMID:12536367|PMID:14532324|PMID:14592868|PMID:15145336|PMID:15322984|PMID:15367858|PMID:15951177|PMID:16061559|PMID:16087917|PMID:16198106|PMID:16199547|PMID:16550914|PMID:17576681|PMID:17878953|PMID:18414213|PMID:19064877|PMID:19153382|PMID:19289485|PMID:19544078|PMID:20157724|PMID:20301347|PMID:20562457|PMID:21150643|PMID:21175599|PMID:21520333|PMID:21822932|PMID:21940170|PMID:22178625|PMID:22382357|PMID:22678886|PMID:22865819|PMID:24033266|PMID:24295813|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26284228|PMID:26467025|PMID:27634344|PMID:27717316|PMID:27779167|PMID:28024842|PMID:28464723|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29367459|PMID:29383513|PMID:29702980|PMID:30124556|PMID:30542963|PMID:30898524|PMID:30931400|PMID:31773638|PMID:31980526|PMID:32721234|PMID:33756069|PMID:3651795|PMID:7531341|PMID:7538206|PMID:7863154|PMID:8232384|PMID:8663316|PMID:8755487|PMID:8872460|PMID:8957026|PMID:9097970|PMID:9158150|PMID:9443457|PMID:9536098|PMID:9539130|PMID:9606190|PMID:9668239|PMID:9708546 12231611 CHRNE cholinergic receptor nicotinic epsilon subunit gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:734106 D RGD:7240710 20180130 OMIM 12231611 CHRNE cholinergic receptor nicotinic epsilon subunit gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:734106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic, associated with acetylcholine receptor deficiency PMID:10211467|PMID:10496269|PMID:10514102|PMID:10534268|PMID:11030414|PMID:12417530|PMID:14532324|PMID:15322984|PMID:15367858|PMID:15951177|PMID:16087917|PMID:16199547|PMID:16550914|PMID:17576681|PMID:17878953|PMID:18414213|PMID:19064877|PMID:19544078|PMID:20301347|PMID:20562457|PMID:21175599|PMID:21940170|PMID:22678886|PMID:24033266|PMID:24295813|PMID:25326635|PMID:25741868|PMID:26467025|PMID:27634344|PMID:28024842|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29383513|PMID:31980526|PMID:8755487|PMID:8957026|PMID:9097970|PMID:9158150|PMID:9443457|PMID:9536098|PMID:9668239|PMID:9708546 12231611 CHRNE cholinergic receptor nicotinic epsilon subunit gene DOID:3635 congenital myasthenic syndrome IAGP D RGD:12801476 20210603 OMIA Myasthenic syndrome, congenital, CHRNE-related PMID:741601|PMID:26429099|PMID:4446286|PMID:6543919|PMID:6543920|PMID:6719791|PMID:28508416|PMID:32668077 12231611 CHRNE cholinergic receptor nicotinic epsilon subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:734106 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital PMID:10496269|PMID:10514102|PMID:10534268|PMID:11030414|PMID:11408331|PMID:12141316|PMID:12417530|PMID:12536367|PMID:15322984|PMID:15367858|PMID:15951177|PMID:16087917|PMID:16199547|PMID:17363247|PMID:17576681|PMID:17878953|PMID:18414213|PMID:19064877|PMID:19153382|PMID:19544078|PMID:20157724|PMID:20301347|PMID:20562457|PMID:21150643|PMID:21175599|PMID:21940170|PMID:22382357|PMID:22678886|PMID:22865819|PMID:24033266|PMID:24295813|PMID:25326635|PMID:25741868|PMID:26284228|PMID:26467025|PMID:27634344|PMID:27717316|PMID:28024842|PMID:28464723|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29383513|PMID:31980526|PMID:8755487|PMID:8957026|PMID:9097970|PMID:9158150|PMID:9443457|PMID:9536098|PMID:9539130|PMID:9668239|PMID:9708546 12231611 CHRNE cholinergic receptor nicotinic epsilon subunit gene DOID:630 genetic disease ISO RGD:734106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12231611 CHRNE cholinergic receptor nicotinic epsilon subunit gene DOID:9006988 Congenital Myasthenic Syndrome, Fast-Channel ISO RGD:734106 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12231642 EIF3B eukaryotic translation initiation factor 3 subunit B gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1319125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12231642 EIF3B eukaryotic translation initiation factor 3 subunit B gene DOID:630 genetic disease ISO RGD:1319125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12231665 STAT2 signal transducer and activator of transcription 2 gene DOID:0060478 Zika fever susceptibility ISO RGD:1323217 D RGD:9068941 20210226 RGD human gene in a mouse model PMID:29746837|REF_RGD_ID:41789627 12231665 STAT2 signal transducer and activator of transcription 2 gene DOID:0060478 Zika fever susceptibility ISO RGD:1323218 D RGD:9068941 20210226 RGD PMID:28278235|REF_RGD_ID:41789631 12231665 STAT2 signal transducer and activator of transcription 2 gene DOID:0081013 severe COVID-19 ISO RGD:1323217 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 PMID:25741868|PMID:28492532|PMID:32135276 12231665 STAT2 signal transducer and activator of transcription 2 gene DOID:0111975 immunodeficiency 44 ISO RGD:1323217 D RGD:7240710 20180130 OMIM 12231665 STAT2 signal transducer and activator of transcription 2 gene DOID:0111975 immunodeficiency 44 ISO RGD:1323217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 44 PMID:16199547|PMID:17576681|PMID:23391734|PMID:24033266|PMID:25741868|PMID:26122121|PMID:28087227|PMID:28492532|PMID:32092142|PMID:32135276|PMID:33679716|PMID:9536098 12231665 STAT2 signal transducer and activator of transcription 2 gene DOID:12155 lymphocytic choriomeningitis ISO RGD:1323218 D RGD:9068941 20210305 RGD PMID:32094187|REF_RGD_ID:42722006 12231665 STAT2 signal transducer and activator of transcription 2 gene DOID:12155 lymphocytic choriomeningitis ISO RGD:732185 D RGD:9068941 20210326 RGD PMID:24760883|REF_RGD_ID:124715479 12231665 STAT2 signal transducer and activator of transcription 2 gene DOID:12205 dengue disease susceptibility ISO RGD:1323218 D RGD:9068941 20210226 RGD PMID:21075352|PMID:21379341|REF_RGD_ID:41789625|REF_RGD_ID:41789629 12231665 STAT2 signal transducer and activator of transcription 2 gene DOID:1227 neutropenia susceptibility ISO RGD:1323217 D RGD:9068941 20210226 RGD associated with Chronic Hepatitis C;DNA:SNP:intron 5:g.4757G>T (human) PMID:19200137|REF_RGD_ID:41789633 12231665 STAT2 signal transducer and activator of transcription 2 gene DOID:1883 hepatitis C ISO RGD:1323217 D RGD:9068941 20210326 RGD protein:increased expression:liver PMID:26216956|REF_RGD_ID:11074283 12231665 STAT2 signal transducer and activator of transcription 2 gene DOID:3717 gastric adenocarcinoma ISO RGD:1323217 D RGD:9068941 20220729 RGD mRNA:increased expression:stomach (human) PMID:33042401|REF_RGD_ID:153298934 12231665 STAT2 signal transducer and activator of transcription 2 gene DOID:3944 Arenaviridae infectious disease ameliorates ISO RGD:1323218 D RGD:9068941 20210226 RGD PMID:15723812|REF_RGD_ID:41789630 12231665 STAT2 signal transducer and activator of transcription 2 gene DOID:630 genetic disease ISO RGD:1323217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12231665 STAT2 signal transducer and activator of transcription 2 gene DOID:9000371 influenza A exacerbates ISO RGD:1323218 D RGD:9068941 20210226 RGD PMID:30337919|REF_RGD_ID:41789626 12231665 STAT2 signal transducer and activator of transcription 2 gene DOID:9004009 Reperfusion Injury ISO RGD:1311649 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:17880360|REF_RGD_ID:2303397 12231665 STAT2 signal transducer and activator of transcription 2 gene DOID:9004137 Bunyaviridae Infections exacerbates ISO RGD:1323218 D RGD:9068941 20210305 RGD PMID:30814285|REF_RGD_ID:41789623 12231665 STAT2 signal transducer and activator of transcription 2 gene DOID:9004379 Vesicular Stomatitis exacerbates ISO RGD:1323218 D RGD:9068941 20210226 RGD PMID:32759968|REF_RGD_ID:41789624 12231665 STAT2 signal transducer and activator of transcription 2 gene DOID:9006262 Cytomegalovirus Infections exacerbates ISO RGD:1323218 D RGD:9068941 20210226 RGD PMID:29743368|REF_RGD_ID:41789628 12231665 STAT2 signal transducer and activator of transcription 2 gene DOID:9006806 Pseudo-TORCH Syndrome 3 ISO RGD:1323217 D RGD:7240710 20200610 OMIM 12231665 STAT2 signal transducer and activator of transcription 2 gene DOID:9006806 Pseudo-TORCH Syndrome 3 ISO RGD:1323217 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pseudo-TORCH syndrome 3 PMID:25741868|PMID:28492532|PMID:31836668|PMID:32092142 12231665 STAT2 signal transducer and activator of transcription 2 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1323217 D RGD:9068941 20210226 RGD mRNA:decreased expression:monocyte (human) PMID:30842274|REF_RGD_ID:41789632 12231665 STAT2 signal transducer and activator of transcription 2 gene DOID:9008885 Staphylococcal Infections ameliorates ISO RGD:1323218 D RGD:9068941 20210226 RGD associated with influenza A PMID:30337919|REF_RGD_ID:41789626 12231665 STAT2 signal transducer and activator of transcription 2 gene DOID:9682 yellow fever susceptibility ISO RGD:1323218 D RGD:9068941 20210226 RGD PMID:31043530|REF_RGD_ID:41789622 12231700 LCA5 lebercilin LCA5 gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1318396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:17576681|PMID:18334959|PMID:25741868|PMID:28492532|PMID:32865313|PMID:9536098 12231700 LCA5 lebercilin LCA5 gene DOID:0110215 Leber congenital amaurosis 5 ISO RGD:1318396 D RGD:7240710 20180130 OMIM 12231700 LCA5 lebercilin LCA5 gene DOID:0110215 Leber congenital amaurosis 5 ISO RGD:1318396 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 5 PMID:10631161|PMID:12642313|PMID:16123401|PMID:16199547|PMID:17546029|PMID:17576681|PMID:18000884|PMID:19503738|PMID:20301475|PMID:21606596|PMID:23661368|PMID:23946133|PMID:24144451|PMID:24265693|PMID:24474277|PMID:25356970|PMID:25412400|PMID:25741868|PMID:26352687|PMID:27624628|PMID:28041643|PMID:28418496|PMID:28492532|PMID:32214227|PMID:32531858|PMID:33776059|PMID:8571951|PMID:9536098 12231700 LCA5 lebercilin LCA5 gene DOID:10584 retinitis pigmentosa ISO RGD:1318396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17546029|PMID:23946133|PMID:24265693|PMID:25741868|PMID:28492532|PMID:32531858|PMID:33776059 12231700 LCA5 lebercilin LCA5 gene DOID:1432 blindness ISO RGD:1318396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17546029 12231700 LCA5 lebercilin LCA5 gene DOID:14791 Leber congenital amaurosis ISO RGD:1318396 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:12642313|PMID:17546029|PMID:17576681|PMID:19503738|PMID:20301475|PMID:21606596|PMID:23946133|PMID:25356970|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26352687|PMID:27624628|PMID:28041643|PMID:28418496|PMID:28492532|PMID:31456290|PMID:32531858|PMID:8571951|PMID:9536098 12231700 LCA5 lebercilin LCA5 gene DOID:630 genetic disease ISO RGD:1318396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17546029|PMID:19503738|PMID:20301475|PMID:21606596|PMID:23946133|PMID:25356970|PMID:25412400|PMID:25741868|PMID:28041643|PMID:28492532|PMID:8571951 12231700 LCA5 lebercilin LCA5 gene DOID:8501 fundus dystrophy ISO RGD:1318396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:17546029|PMID:19503738|PMID:20301475|PMID:21606596|PMID:23946133|PMID:25356970|PMID:25412400|PMID:25741868|PMID:27624628|PMID:28041643|PMID:28492532|PMID:8571951 12231700 LCA5 lebercilin LCA5 gene DOID:9269 maple syrup urine disease ISO RGD:1318396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:16786533|PMID:22593002|PMID:24571530|PMID:28492532 12231731 AMD1 adenosylmethionine decarboxylase 1 gene DOID:0112221 developmental and epileptic encephalopathy 87 ISO RGD:1351440 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 87 PMID:25741868|PMID:32330417|PMID:33134521|PMID:33495529|PMID:33568421 12231731 AMD1 adenosylmethionine decarboxylase 1 gene DOID:10283 prostate cancer ISO RGD:1351440 D RGD:9068941 20200609 RGD protein:increased expression:prostate PMID:30397274|REF_RGD_ID:14390073 12231731 AMD1 adenosylmethionine decarboxylase 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1351440 D RGD:9068941 20200609 RGD DNA:SNP: :rs1279590(human) PMID:30650190|REF_RGD_ID:14390072 12231731 AMD1 adenosylmethionine decarboxylase 1 gene DOID:630 genetic disease ISO RGD:1351440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12231731 AMD1 adenosylmethionine decarboxylase 1 gene DOID:9002569 Overweight ISO RGD:1351440 D RGD:9068941 20200609 RGD DNA:SNP: :rs2796749(human) PMID:22496743|REF_RGD_ID:14390074 12231748 SGCZ sarcoglycan zeta gene DOID:37 skin disease ISO RGD:1317183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28720099 12231748 SGCZ sarcoglycan zeta gene DOID:630 genetic disease ISO RGD:1317183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12231748 SGCZ sarcoglycan zeta gene DOID:670 amphetamine abuse ISO RGD:1317183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12231758 SEPTIN9 septin 9 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1349459 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532|PMID:32122354 12231758 SEPTIN9 septin 9 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1349459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 12231758 SEPTIN9 septin 9 gene DOID:10383 amyotrophic neuralgia ISO RGD:1349459 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic neuralgia | ClinVar Annotator: match by term: Hereditary Neuralgic Amyotrophy (HNA) PMID:16186812|PMID:17546647|PMID:18492087|PMID:19139049|PMID:19204161|PMID:19451530|PMID:20019224|PMID:20301569|PMID:22981636|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28503616|PMID:31619932 12231758 SEPTIN9 septin 9 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1349459 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25025039|PMID:28492532 12231758 SEPTIN9 septin 9 gene DOID:3689 brachial plexus neuritis ISO RGD:1349459 D RGD:7240710 20180130 OMIM 12231758 SEPTIN9 septin 9 gene DOID:3689 brachial plexus neuritis ISO RGD:1349459 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic neuralgia | ClinVar Annotator: match by term: Hereditary Neuralgic Amyotrophy (HNA) PMID:16186812|PMID:17546647|PMID:18492087|PMID:19139049|PMID:19204161|PMID:19451530|PMID:20019224|PMID:20301569|PMID:22981636|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28503616|PMID:31619932 12231758 SEPTIN9 septin 9 gene DOID:630 genetic disease ISO RGD:1349459 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12231758 SEPTIN9 septin 9 gene DOID:9001441 Adenomatous Polyps severity ISO RGD:1349459 D RGD:9068941 20220825 RGD DNA:altered methylation:plasma: PMID:20140221|REF_RGD_ID:153344541 12231758 SEPTIN9 septin 9 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1349459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388789 12231758 SEPTIN9 septin 9 gene DOID:9119 acute myeloid leukemia ISO RGD:1349459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10339604 12231758 SEPTIN9 septin 9 gene DOID:9240 erythromelalgia ISO RGD:1349459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sodium channelopathy-related small fiber neuropathy 12231758 SEPTIN9 septin 9 gene DOID:9256 colorectal cancer ISO RGD:1349459 D RGD:9068941 20220825 RGD DNA:hypermethylation:urine: PMID:33504902|REF_RGD_ID:153344542 12231774 VGLL2 vestigial like family member 2 gene DOID:0060163 body dysmorphic disorder ISO RGD:1323604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 12231774 VGLL2 vestigial like family member 2 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1323604 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12231774 VGLL2 vestigial like family member 2 gene DOID:1059 intellectual disability ISO RGD:1323604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 12231774 VGLL2 vestigial like family member 2 gene DOID:10907 microcephaly ISO RGD:1323604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 12231774 VGLL2 vestigial like family member 2 gene DOID:1826 epilepsy ISO RGD:1323604 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12231774 VGLL2 vestigial like family member 2 gene DOID:1909 melanoma ISO RGD:1323604 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12231774 VGLL2 vestigial like family member 2 gene DOID:630 genetic disease ISO RGD:1323604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12231774 VGLL2 vestigial like family member 2 gene DOID:9000495 Tremor ISO RGD:1323604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12231796 XAB2 XPA binding protein 2 gene DOID:0080490 mucolipidosis type IV ISO RGD:1342496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12231796 XAB2 XPA binding protein 2 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1342496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 12231796 XAB2 XPA binding protein 2 gene DOID:630 genetic disease ISO RGD:1342496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12231819 CHRNA10 cholinergic receptor nicotinic alpha 10 subunit gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12231819 CHRNA10 cholinergic receptor nicotinic alpha 10 subunit gene DOID:0080773 delta beta-thalassemia ISO RGD:735581 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12231819 CHRNA10 cholinergic receptor nicotinic alpha 10 subunit gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12231819 CHRNA10 cholinergic receptor nicotinic alpha 10 subunit gene DOID:630 genetic disease ISO RGD:735581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12231828 TMEM67 transmembrane protein 67 gene DOID:0050545 visceral heterotaxy ISO RGD:1316347 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 12231828 TMEM67 transmembrane protein 67 gene DOID:0050777 Joubert syndrome ISO RGD:1606753 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:10567047|PMID:12368986|PMID:16199547|PMID:16541367|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:19763152|PMID:20232449|PMID:20307669|PMID:20607301|PMID:21068128|PMID:21493627|PMID:21633164|PMID:21866095|PMID:22406018|PMID:23034536|PMID:23351400|PMID:23559409|PMID:24033266|PMID:24039893|PMID:25326635|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26123494|PMID:26191240|PMID:26467025|PMID:26546361|PMID:26729329|PMID:27434533|PMID:27457812|PMID:27491411|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28719906|PMID:28771248|PMID:28973083|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29568536|PMID:29891882|PMID:29947050|PMID:29974258|PMID:30455918|PMID:31019026|PMID:31411728|PMID:31589614|PMID:31738409|PMID:32000717|PMID:32404165|PMID:33532864|PMID:34032358|PMID:34645491|PMID:34675960|PMID:34964473|PMID:8862632|PMID:9375913|PMID:9536098 12231828 TMEM67 transmembrane protein 67 gene DOID:0050778 Meckel syndrome ISO RGD:1606753 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:17160906|PMID:17377820|PMID:17397051|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21493627|PMID:21866095|PMID:23559409|PMID:24033266|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:29127258|PMID:29146704|PMID:29891882|PMID:9375913 12231828 TMEM67 transmembrane protein 67 gene DOID:0050952 spastic ataxia ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 12231828 TMEM67 transmembrane protein 67 gene DOID:0060340 ciliopathy ISO RGD:1606753 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ciliopathy PMID:25741868|PMID:28492532|PMID:28771248 12231828 TMEM67 transmembrane protein 67 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1606753 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:17377820|PMID:17397051|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:24033266|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28492532|PMID:29891882|PMID:9375913 12231828 TMEM67 transmembrane protein 67 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1606753 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome PMID:17160906|PMID:17377820|PMID:17397051|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28289063|PMID:28431631|PMID:28492532|PMID:29127258|PMID:29146704|PMID:29891882|PMID:9375913 12231828 TMEM67 transmembrane protein 67 gene DOID:0070117 Meckel syndrome 3 ISO RGD:1606753 D RGD:7240710 20180130 OMIM 12231828 TMEM67 transmembrane protein 67 gene DOID:0070117 Meckel syndrome 3 ISO RGD:1606753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3 | ClinVar Annotator: match by term: Meckel syndrome, type 3 PMID:16199547|PMID:16415887|PMID:16541367|PMID:17160906|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21633164|PMID:21866095|PMID:22121117|PMID:23351400|PMID:23559409|PMID:25326635|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26123494|PMID:26467025|PMID:26546361|PMID:26729329|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28771248|PMID:28973083|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29891882|PMID:29974258|PMID:31411728|PMID:34032358|PMID:34675960|PMID:9375913|PMID:9536098 12231828 TMEM67 transmembrane protein 67 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1606753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:28492532 12231828 TMEM67 transmembrane protein 67 gene DOID:0110136 Bardet-Biedl syndrome 14 ISO RGD:1606753 D RGD:7240710 20180130 OMIM 12231828 TMEM67 transmembrane protein 67 gene DOID:0110136 Bardet-Biedl syndrome 14 ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 PMID:17397051|PMID:18327255|PMID:18414213|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28492532|PMID:29127258 12231828 TMEM67 transmembrane protein 67 gene DOID:0110136 Bardet-Biedl syndrome 14 ISO RGD:1606753 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 14, modifier of PMID:17377820|PMID:17397051|PMID:18327255|PMID:18414213|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28492532|PMID:29127258|PMID:29146704|PMID:29891882|PMID:9375913 12231828 TMEM67 transmembrane protein 67 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1586167 D RGD:9068941 20201211 RGD PMID:11095650|PMID:15052665|PMID:30705305|REF_RGD_ID:1300514|REF_RGD_ID:14995942|REF_RGD_ID:15014788 12231828 TMEM67 transmembrane protein 67 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1606753 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:17160906|PMID:17377820|PMID:17397051|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28289063|PMID:28431631|PMID:28492532|PMID:29127258|PMID:29146704|PMID:29891882|PMID:9375913 12231828 TMEM67 transmembrane protein 67 gene DOID:0111001 Joubert syndrome 6 ISO RGD:1606753 D RGD:7240710 20180130 OMIM 12231828 TMEM67 transmembrane protein 67 gene DOID:0111001 Joubert syndrome 6 ISO RGD:1606753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 6 PMID:10567047|PMID:12368986|PMID:16199547|PMID:16541367|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21633164|PMID:21866095|PMID:23351400|PMID:23559409|PMID:25326635|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26467025|PMID:26729329|PMID:27434533|PMID:27457812|PMID:27491411|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28508964|PMID:28719906|PMID:28771248|PMID:28973083|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29568536|PMID:29891882|PMID:29974258|PMID:30055837|PMID:30455918|PMID:31019026|PMID:31319225|PMID:31589614|PMID:31738409|PMID:32000717|PMID:32404165|PMID:34645491|PMID:34675960|PMID:34964473|PMID:36617405|PMID:8862632|PMID:9375913|PMID:9536098 12231828 TMEM67 transmembrane protein 67 gene DOID:0111112 nephronophthisis 1 ISO RGD:1606753 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:17160906|PMID:18327255|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28289063|PMID:28492532 12231828 TMEM67 transmembrane protein 67 gene DOID:0111118 nephronophthisis 11 ISO RGD:1606753 D RGD:7240710 20180130 OMIM 12231828 TMEM67 transmembrane protein 67 gene DOID:0111118 nephronophthisis 11 ISO RGD:1606753 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis 11 PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26467025|PMID:26729329|PMID:28289063|PMID:28492532|PMID:28771248|PMID:29127258|PMID:29146704|PMID:29891882|PMID:29974258|PMID:33532864|PMID:9375913|PMID:9536098 12231828 TMEM67 transmembrane protein 67 gene DOID:0111589 COACH syndrome ISO RGD:1606753 D RGD:9068941 20201203 RGD DNA:missense mutations: :multiple PMID:19058225|PMID:19574260|REF_RGD_ID:11535944|REF_RGD_ID:11535946 12231828 TMEM67 transmembrane protein 67 gene DOID:0111589 COACH syndrome ISO RGD:1606753 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism 12231828 TMEM67 transmembrane protein 67 gene DOID:1059 intellectual disability ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 12231828 TMEM67 transmembrane protein 67 gene DOID:10907 microcephaly ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12231828 TMEM67 transmembrane protein 67 gene DOID:10908 hydrocephalus ISO RGD:1586167 D RGD:9068941 20201211 RGD PMID:15052665|PMID:30705305|REF_RGD_ID:14995942|REF_RGD_ID:15014788 12231828 TMEM67 transmembrane protein 67 gene DOID:12215 oligohydramnios ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligohydramnios | ClinVar Annotator: match by term: anhydramnios PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532|PMID:35005812 12231828 TMEM67 transmembrane protein 67 gene DOID:12270 coloboma ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coloboma of eye | ClinVar Annotator: match by term: Congenital ocular coloboma PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23351400|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 12231828 TMEM67 transmembrane protein 67 gene DOID:12712 nephronophthisis ISO RGD:1606753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:17160906|PMID:17397051|PMID:18327255|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28289063|PMID:28492532|PMID:28497568|PMID:29568536 12231828 TMEM67 transmembrane protein 67 gene DOID:1573 communicating hydrocephalus ISO RGD:1586167 D RGD:9068941 20200609 RGD PMID:30705305|REF_RGD_ID:14995942 12231828 TMEM67 transmembrane protein 67 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606753 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16415887|PMID:25741868 12231828 TMEM67 transmembrane protein 67 gene DOID:2975 cystic kidney disease ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystic kidney disease PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 12231828 TMEM67 transmembrane protein 67 gene DOID:4989 pancreatitis ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatitis PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 12231828 TMEM67 transmembrane protein 67 gene DOID:5082 liver cirrhosis ISO RGD:1606753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19508969 12231828 TMEM67 transmembrane protein 67 gene DOID:557 kidney disease ISO RGD:1606753 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:17160906|PMID:18327255|PMID:18414213|PMID:25741868|PMID:28289063|PMID:28492532|PMID:29127258 12231828 TMEM67 transmembrane protein 67 gene DOID:576 proteinuria ISO RGD:1586167 D RGD:9068941 20201211 RGD compared to RGD:14995941 PMID:11095650|REF_RGD_ID:1300514 12231828 TMEM67 transmembrane protein 67 gene DOID:630 genetic disease ISO RGD:1606753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23351400|PMID:23559409|PMID:25326635|PMID:25741868|PMID:26035863|PMID:26092869|PMID:27491411|PMID:28492532|PMID:28719906 12231828 TMEM67 transmembrane protein 67 gene DOID:8283 peritonitis ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peritonitis PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 12231828 TMEM67 transmembrane protein 67 gene DOID:9000343 Vision Disorders ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 12231828 TMEM67 transmembrane protein 67 gene DOID:9000495 Tremor ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 12231828 TMEM67 transmembrane protein 67 gene DOID:9000639 COACH Syndrome 1 ISO RGD:1606753 D RGD:7240710 20201202 OMIM 12231828 TMEM67 transmembrane protein 67 gene DOID:9000639 COACH Syndrome 1 ISO RGD:1606753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COACH syndrome 1 PMID:12368986|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21633164|PMID:21866095|PMID:23351400|PMID:23559409|PMID:24033266|PMID:25326635|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26467025|PMID:26729329|PMID:27434533|PMID:27491411|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28719906|PMID:28771248|PMID:28973083|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29568536|PMID:29891882|PMID:29974258|PMID:36617405|PMID:8862632|PMID:9375913|PMID:9536098 12231828 TMEM67 transmembrane protein 67 gene DOID:9001575 IRIS COLOBOMA ISO RGD:1606753 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Iris coloboma PMID:20232449|PMID:23559409|PMID:24033266|PMID:25741868|PMID:26729329|PMID:28492532 12231828 TMEM67 transmembrane protein 67 gene DOID:9005786 RHYNS Syndrome ISO RGD:1606753 D RGD:7240710 20221207 OMIM 12231828 TMEM67 transmembrane protein 67 gene DOID:9005786 RHYNS Syndrome ISO RGD:1606753 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RHYNS syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa syndrome PMID:17377820|PMID:17397051|PMID:18327255|PMID:18414213|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28492532|PMID:29127258|PMID:29146704|PMID:29891882|PMID:9375913 12231828 TMEM67 transmembrane protein 67 gene DOID:9006534 Nervous System Malformations ISO RGD:1606753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:19574260|PMID:23559409|PMID:25741868|PMID:26092869|PMID:27491411|PMID:28492532|PMID:28719906 12231828 TMEM67 transmembrane protein 67 gene DOID:9008086 Developmental Disabilities ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 12231828 TMEM67 transmembrane protein 67 gene DOID:9650 pathologic nystagmus ISO RGD:1606753 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 12231866 KPNA6 karyopherin subunit alpha 6 gene DOID:630 genetic disease ISO RGD:1315261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12231888 PFKL phosphofructokinase, liver type gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:731398 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 12231888 PFKL phosphofructokinase, liver type gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:731398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12231888 PFKL phosphofructokinase, liver type gene DOID:0110266 cataract 9 multiple types ISO RGD:731398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12231888 PFKL phosphofructokinase, liver type gene DOID:12849 autistic disorder ISO RGD:731398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12231888 PFKL phosphofructokinase, liver type gene DOID:630 genetic disease ISO RGD:731398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12231888 PFKL phosphofructokinase, liver type gene DOID:891 progressive myoclonus epilepsy ISO RGD:731398 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12231888 PFKL phosphofructokinase, liver type gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12231888 PFKL phosphofructokinase, liver type gene DOID:9263 homocystinuria ISO RGD:731398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12231888 PFKL phosphofructokinase, liver type gene DOID:9562 primary ciliary dyskinesia ISO RGD:731398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12231914 PANK3 pantothenate kinase 3 gene DOID:0111951 immunodeficiency 40 ISO RGD:1321488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 12231914 PANK3 pantothenate kinase 3 gene DOID:630 genetic disease ISO RGD:1321488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12231925 APOA5 apolipoprotein A5 gene DOID:0111123 nephronophthisis 15 ISO RGD:736192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 12231925 APOA5 apolipoprotein A5 gene DOID:0111421 familial apolipoprotein A5 deficiency ISO RGD:736192 D RGD:7240710 20230517 OMIM 12231925 APOA5 apolipoprotein A5 gene DOID:1059 intellectual disability ISO RGD:736192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12231925 APOA5 apolipoprotein A5 gene DOID:1171 hyperlipoproteinemia type V ISO RGD:736192 D RGD:7240710 20230517 OMIM 12231925 APOA5 apolipoprotein A5 gene DOID:1171 hyperlipoproteinemia type V ISO RGD:736192 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial type 5 hyperlipoproteinemia PMID:12417524|PMID:12417525|PMID:16200213|PMID:16806135|PMID:18324930|PMID:19447388|PMID:21993410|PMID:23151256|PMID:23307945|PMID:24591733|PMID:24793350|PMID:25487149|PMID:25741868|PMID:26046366|PMID:27108409|PMID:27578109|PMID:27678447|PMID:28492532|PMID:28951076|PMID:29954705|PMID:31619059|PMID:31980526|PMID:32041611|PMID:33111339|PMID:33462484 12231925 APOA5 apolipoprotein A5 gene DOID:1172 hyperlipoproteinemia type IV ISO RGD:736192 D RGD:7240710 20230517 OMIM 12231925 APOA5 apolipoprotein A5 gene DOID:14118 familial lipoprotein lipase deficiency ISO RGD:736192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia, type I PMID:25741868 12231925 APOA5 apolipoprotein A5 gene DOID:1459 hypothyroidism ISO RGD:70903 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:15941710|REF_RGD_ID:1601661 12231925 APOA5 apolipoprotein A5 gene DOID:3145 hyperlipoproteinemia type III ISO RGD:736192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16143024 12231925 APOA5 apolipoprotein A5 gene DOID:3393 coronary artery disease ISO RGD:736192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097064 12231925 APOA5 apolipoprotein A5 gene DOID:3393 coronary artery disease ISO RGD:736192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-1131T>C (human) PMID:15177130|REF_RGD_ID:2313322 12231925 APOA5 apolipoprotein A5 gene DOID:3393 coronary artery disease no_association ISO RGD:736192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-1131T>C, c.56C>G (human) PMID:15306190|REF_RGD_ID:1578412 12231925 APOA5 apolipoprotein A5 gene DOID:3526 cerebral infarction ISO RGD:736192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C (human) PMID:19107359|REF_RGD_ID:2313314 12231925 APOA5 apolipoprotein A5 gene DOID:630 genetic disease ISO RGD:736192 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16806135|PMID:28492532|PMID:30420299 12231925 APOA5 apolipoprotein A5 gene DOID:9000810 HYPERTRIGLYCERIDEMIA 1 ISO RGD:736192 D RGD:7240710 20230517 OMIM 12231925 APOA5 apolipoprotein A5 gene DOID:9000810 HYPERTRIGLYCERIDEMIA 1 ISO RGD:736192 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia, familial PMID:11588264|PMID:12417524|PMID:12417525|PMID:12915450|PMID:18324930|PMID:19447388|PMID:23151256|PMID:23307945|PMID:24387992|PMID:24591733|PMID:24793350|PMID:25487149|PMID:25741868|PMID:26046366|PMID:27108409|PMID:28492532|PMID:29954705|PMID:31980526|PMID:32041611|PMID:33462484 12231925 APOA5 apolipoprotein A5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:736192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12231925 APOA5 apolipoprotein A5 gene DOID:9004581 Pediatric Obesity ISO RGD:736192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25137265 12231925 APOA5 apolipoprotein A5 gene DOID:9006599 Hypertriglyceridemia ISO RGD:736192 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia PMID:18324930|PMID:19447388|PMID:23151256|PMID:23307945|PMID:24591733|PMID:24793350|PMID:25487149|PMID:25741868|PMID:27108409|PMID:28492532|PMID:32041611 12231925 APOA5 apolipoprotein A5 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:736192 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.S19W (human) PMID:18789138|REF_RGD_ID:2313315 12231925 APOA5 apolipoprotein A5 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:736192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C, p.S19W (human) PMID:18468520|REF_RGD_ID:2313317 12231925 APOA5 apolipoprotein A5 gene DOID:9007661 Dwarfism ISO RGD:736192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12231925 APOA5 apolipoprotein A5 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736192 D RGD:9068941 20200609 RGD PMID:16039297|REF_RGD_ID:2313321 12231925 APOA5 apolipoprotein A5 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736192 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1131T>C (human) PMID:17548321|REF_RGD_ID:2313318 12231925 APOA5 apolipoprotein A5 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:736192 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.553G>T (human) PMID:17087641|REF_RGD_ID:2313319 12231935 FXR2 FMR1 autosomal homolog 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1315950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12231935 FXR2 FMR1 autosomal homolog 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1315950 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12231935 FXR2 FMR1 autosomal homolog 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1315950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12231935 FXR2 FMR1 autosomal homolog 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1315950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12231935 FXR2 FMR1 autosomal homolog 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1315950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12231935 FXR2 FMR1 autosomal homolog 2 gene DOID:630 genetic disease ISO RGD:1315950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12231962 CCDC27 coiled-coil domain containing 27 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1602432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12231962 CCDC27 coiled-coil domain containing 27 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12231962 CCDC27 coiled-coil domain containing 27 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1602432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12231962 CCDC27 coiled-coil domain containing 27 gene DOID:0111934 immunodeficiency 38 ISO RGD:1602432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12231962 CCDC27 coiled-coil domain containing 27 gene DOID:0111935 immunodeficiency 16 ISO RGD:1602432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12231962 CCDC27 coiled-coil domain containing 27 gene DOID:630 genetic disease ISO RGD:1602432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12231962 CCDC27 coiled-coil domain containing 27 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12231962 CCDC27 coiled-coil domain containing 27 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1602432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12231982 GOSR1 golgi SNAP receptor complex member 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737606 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 12231982 GOSR1 golgi SNAP receptor complex member 1 gene DOID:630 genetic disease ISO RGD:737606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232000 SMYD4 SET and MYND domain containing 4 gene DOID:0050902 medulloblastoma ISO RGD:1316528 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 12232000 SMYD4 SET and MYND domain containing 4 gene DOID:630 genetic disease ISO RGD:1316528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232024 LSM4 LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:1936 atherosclerosis ISO RGD:1315632 D RGD:9068941 20230128 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) PMID:33381146|REF_RGD_ID:155882464 12232024 LSM4 LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:630 genetic disease ISO RGD:1315632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232024 LSM4 LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1315632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12232033 PPAT phosphoribosyl pyrophosphate amidotransferase gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:733613 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 12232033 PPAT phosphoribosyl pyrophosphate amidotransferase gene DOID:4450 renal cell carcinoma ISO RGD:620237 D RGD:9068941 20200609 RGD protein:increased activity:tumor (rat) PMID:476627|REF_RGD_ID:5135050 12232033 PPAT phosphoribosyl pyrophosphate amidotransferase gene DOID:630 genetic disease ISO RGD:733613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232033 PPAT phosphoribosyl pyrophosphate amidotransferase gene DOID:684 hepatocellular carcinoma ISO RGD:620237 D RGD:9068941 20200609 RGD protein:increased activity:hepatoma (rat) PMID:6327016|REF_RGD_ID:5135035 12232033 PPAT phosphoribosyl pyrophosphate amidotransferase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:733613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:761203 12232033 PPAT phosphoribosyl pyrophosphate amidotransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620237 D RGD:9068941 20200609 RGD protein:increased activity:kidney (rat) PMID:2451505|REF_RGD_ID:5135016 12232033 PPAT phosphoribosyl pyrophosphate amidotransferase gene DOID:9007102 Myocardial Ischemia ISO RGD:733613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12232048 GGCT gamma-glutamylcyclotransferase gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1312569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 12232048 GGCT gamma-glutamylcyclotransferase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12232048 GGCT gamma-glutamylcyclotransferase gene DOID:630 genetic disease ISO RGD:1312569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232048 GGCT gamma-glutamylcyclotransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12232056 CRABP2 cellular retinoic acid binding protein 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:731412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12232056 CRABP2 cellular retinoic acid binding protein 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:731412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12232056 CRABP2 cellular retinoic acid binding protein 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:731412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12232056 CRABP2 cellular retinoic acid binding protein 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:731412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12232056 CRABP2 cellular retinoic acid binding protein 2 gene DOID:14749 methylmalonic acidemia ISO RGD:731412 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 12232056 CRABP2 cellular retinoic acid binding protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:731412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12232056 CRABP2 cellular retinoic acid binding protein 2 gene DOID:5812 MHC class II deficiency ISO RGD:731412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12232056 CRABP2 cellular retinoic acid binding protein 2 gene DOID:630 genetic disease ISO RGD:731412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232056 CRABP2 cellular retinoic acid binding protein 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:731412 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35442568 12232056 CRABP2 cellular retinoic acid binding protein 2 gene DOID:9002801 Recurrence ISO RGD:731412 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8400267 12232056 CRABP2 cellular retinoic acid binding protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12232067 RCCD1 RCC1 domain containing 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1605899 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12232067 RCCD1 RCC1 domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1605899 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12232067 RCCD1 RCC1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1605899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232067 RCCD1 RCC1 domain containing 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1605899 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12232084 PID1 phosphotyrosine interaction domain containing 1 gene DOID:630 genetic disease ISO RGD:1605994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232110 MIR224 microRNA mir-224 gene DOID:0050860 colorectal adenoma ISO RGD:1346129 D RGD:9068941 20200609 RGD mRNA:increased expression:colorectal mucosa: PMID:25919696|REF_RGD_ID:14398749 12232110 MIR224 microRNA mir-224 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12232110 MIR224 microRNA mir-224 gene DOID:12849 autistic disorder ISO RGD:1346129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12232110 MIR224 microRNA mir-224 gene DOID:684 hepatocellular carcinoma ISO RGD:1346129 D RGD:9068941 20200609 RGD associated with hepatitis B;miRNA:increased expression:liver (human) PMID:23913306|REF_RGD_ID:18182923 12232110 MIR224 microRNA mir-224 gene DOID:684 hepatocellular carcinoma ISO RGD:1346129 D RGD:9068941 20200609 RGD miRNA:increased expression:liver (human) PMID:22459148|PMID:23922662|REF_RGD_ID:18182921|REF_RGD_ID:18182922 12232110 MIR224 microRNA mir-224 gene DOID:684 hepatocellular carcinoma ISO RGD:1608162 D RGD:9068941 20200609 RGD associated with hepatitis B;miRNA:increased expression:liver (human) PMID:23913306|REF_RGD_ID:18182923 12232110 MIR224 microRNA mir-224 gene DOID:684 hepatocellular carcinoma ISO RGD:1608162 D RGD:9068941 20200609 RGD miRNA:increased expression:liver (human) PMID:22459148|PMID:23922662|REF_RGD_ID:18182921|REF_RGD_ID:18182922 12232110 MIR224 microRNA mir-224 gene DOID:684 hepatocellular carcinoma ISO RGD:2325530 D RGD:9068941 20200609 RGD associated with hepatitis B;miRNA:increased expression:liver (human) PMID:23913306|REF_RGD_ID:18182923 12232110 MIR224 microRNA mir-224 gene DOID:684 hepatocellular carcinoma ISO RGD:2325530 D RGD:9068941 20200609 RGD miRNA:increased expression:liver (human) PMID:22459148|PMID:23922662|REF_RGD_ID:18182921|REF_RGD_ID:18182922 12232110 MIR224 microRNA mir-224 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1346129 D RGD:9068941 20200609 RGD miRNA:increased expression:liver (human) PMID:24923856|REF_RGD_ID:18182924 12232110 MIR224 microRNA mir-224 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1346129 D RGD:9068941 20200609 RGD miRNA:increased expression:plasma (human) PMID:27462777|REF_RGD_ID:18182926 12232110 MIR224 microRNA mir-224 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1608162 D RGD:9068941 20200609 RGD miRNA:increased expression:liver (human) PMID:24923856|REF_RGD_ID:18182924 12232110 MIR224 microRNA mir-224 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1608162 D RGD:9068941 20200609 RGD miRNA:increased expression:plasma (human) PMID:27462777|REF_RGD_ID:18182926 12232110 MIR224 microRNA mir-224 gene DOID:684 hepatocellular carcinoma severity ISO RGD:2325530 D RGD:9068941 20200609 RGD miRNA:increased expression:liver (human) PMID:24923856|REF_RGD_ID:18182924 12232110 MIR224 microRNA mir-224 gene DOID:684 hepatocellular carcinoma severity ISO RGD:2325530 D RGD:9068941 20200609 RGD miRNA:increased expression:plasma (human) PMID:27462777|REF_RGD_ID:18182926 12232110 MIR224 microRNA mir-224 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1346129 D RGD:9068941 20200609 RGD associated with colorectal cancer; mRNA:decreased expression:colorectal mucosa: PMID:25919696|REF_RGD_ID:14398749 12232110 MIR224 microRNA mir-224 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1346129 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 12232110 MIR224 microRNA mir-224 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1346129 D RGD:9068941 20200609 RGD associated with colorectal cancer; mRNA:increased expression:colorectal mucosa: PMID:25919696|REF_RGD_ID:14398749 12232110 MIR224 microRNA mir-224 gene DOID:9005172 Lung Neoplasms ISO RGD:1346129 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12232110 MIR224 microRNA mir-224 gene DOID:9007787 Carcinoid Tumor ISO RGD:1346129 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12232110 MIR224 microRNA mir-224 gene DOID:9256 colorectal cancer ISO RGD:1346129 D RGD:9068941 20200609 RGD mRNA:increased expression:colorectal mucosa: PMID:25919696|REF_RGD_ID:14398749 12232110 MIR224 microRNA mir-224 gene DOID:9256 colorectal cancer ISO RGD:1346129 D RGD:9068941 20220721 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12232110 MIR224 microRNA mir-224 gene DOID:9452 fatty liver disease ISO RGD:1346129 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;miRNA:increased expression:liver (human) PMID:25386083|REF_RGD_ID:18182925 12232110 MIR224 microRNA mir-224 gene DOID:9452 fatty liver disease ISO RGD:1608162 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;miRNA:increased expression:liver (human) PMID:25386083|REF_RGD_ID:18182925 12232110 MIR224 microRNA mir-224 gene DOID:9452 fatty liver disease ISO RGD:2325530 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;miRNA:increased expression:liver (human) PMID:25386083|REF_RGD_ID:18182925 12232149 SMIM43 small integral membrane protein 43 gene DOID:630 genetic disease ISO RGD:1604239 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232149 SMIM43 small integral membrane protein 43 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1604239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 12232149 SMIM43 small integral membrane protein 43 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12232149 SMIM43 small integral membrane protein 43 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604239 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 12232163 PATE3 prostate and testis expressed 3 gene DOID:0110877 holoprosencephaly 11 ISO RGD:2302531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12232163 PATE3 prostate and testis expressed 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:2302531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12232163 PATE3 prostate and testis expressed 3 gene DOID:5419 schizophrenia ISO RGD:2302531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12232163 PATE3 prostate and testis expressed 3 gene DOID:630 genetic disease ISO RGD:2302531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232163 PATE3 prostate and testis expressed 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:2302531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12232163 PATE3 prostate and testis expressed 3 gene DOID:9007661 Dwarfism ISO RGD:2302531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12232174 RBM11 RNA binding motif protein 11 gene DOID:10652 Alzheimer's disease ISO RGD:1313079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 12232174 RBM11 RNA binding motif protein 11 gene DOID:630 genetic disease ISO RGD:1313079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232174 RBM11 RNA binding motif protein 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0050731 vitamin B12 deficiency ISO RGD:621283 D RGD:9068941 20200609 RGD protein:decreased expression,decreased activity:liver: PMID:14646334|REF_RGD_ID:8694080 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0050733 methylmalonic aciduria and homocystinuria type cblG ISO RGD:731933 D RGD:7240710 20230510 OMIM 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0050733 methylmalonic aciduria and homocystinuria type cblG ISO RGD:731933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG PMID:10323741|PMID:12068375|PMID:12154064|PMID:12375236|PMID:12923861|PMID:16199547|PMID:17576681|PMID:20890936|PMID:21615938|PMID:22887477|PMID:25227144|PMID:25526710|PMID:25558065|PMID:25741868|PMID:25856670|PMID:26198278|PMID:28492532|PMID:28666289|PMID:32581362|PMID:8968736|PMID:8968737|PMID:9013615|PMID:9235907|PMID:9536098|PMID:9683607 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0050873 follicular lymphoma ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16410450 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:731933 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0060058 lymphoma ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16799656 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:731933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:28492532 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:731933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0080016 spina bifida ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:polymorphism: :2756A>G(human) PMID:12375236|REF_RGD_ID:1302512 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0110428 dilated cardiomyopathy 1AA ISO RGD:731933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:28492532 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0112256 homocystinuria-megaloblastic anemia cblG type ISO RGD:731933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG PMID:10323741|PMID:12068375|PMID:12154064|PMID:12375236|PMID:12923861|PMID:16199547|PMID:17576681|PMID:20890936|PMID:21615938|PMID:22887477|PMID:25227144|PMID:25526710|PMID:25558065|PMID:25741868|PMID:25856670|PMID:26198278|PMID:28492532|PMID:28666289|PMID:32581362|PMID:8968736|PMID:8968737|PMID:9013615|PMID:9235907|PMID:9536098|PMID:9683607 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:1059 intellectual disability ISO RGD:731933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:10763 hypertension ISO RGD:731933 D RGD:9068941 20200609 RGD PMID:15148588|REF_RGD_ID:1581050 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:polymorphism: :2756A>G(human) PMID:19837268|REF_RGD_ID:6893521 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:114 heart disease ISO RGD:731933 D RGD:9068941 20200609 RGD PMID:15202865|REF_RGD_ID:1581049 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:12336 male infertility ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16861746 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:12849 autistic disorder susceptibility ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:polymorphism: :66A>G (human) PMID:19440165|REF_RGD_ID:5508202 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:1540 parathyroid carcinoma ISO RGD:731933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:1793 pancreatic cancer no_association ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:Polymorphism: :rs1805087 (human) PMID:16737574|REF_RGD_ID:2317120 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:1793 pancreatic cancer susceptibility ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:Polymorphism: :rs1805087 (human) PMID:18843018|REF_RGD_ID:2317118 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:1826 epilepsy ISO RGD:731933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:12068375|PMID:25526710|PMID:25558065|PMID:25741868|PMID:25856670|PMID:28492532|PMID:28666289|PMID:32581362|PMID:8968736|PMID:9235907 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:2986 IgA glomerulonephritis ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:polymorphism:Cds :2756A>G(human) PMID:21737517|REF_RGD_ID:7207085 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:630 genetic disease ISO RGD:731933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12068375|PMID:25526710|PMID:25558065|PMID:25741868|PMID:25856670|PMID:26198278|PMID:28492532|PMID:28666289|PMID:32581362|PMID:8968736|PMID:9235907 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:655 inherited metabolic disorder ISO RGD:731933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:10323741|PMID:12068375|PMID:12154064|PMID:12375236|PMID:12923861|PMID:20890936|PMID:21615938|PMID:25227144|PMID:25526710|PMID:25558065|PMID:25741868|PMID:25856670|PMID:26198278|PMID:28492532|PMID:28666289|PMID:32581362|PMID:8968736|PMID:8968737|PMID:9013615|PMID:9235907 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:674 cleft palate ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:74 hematopoietic system disease ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19159907 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:768 retinoblastoma susceptibility ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:SNP::2756A>G(human) PMID:20310006|REF_RGD_ID:8694083 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:77 gastrointestinal system disease ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19159907 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:731933 D RGD:7240710 20230510 OMIM 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:731933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to PMID:10323741|PMID:12154064|PMID:12375236|PMID:12923861|PMID:25227144|PMID:25741868|PMID:28492532|PMID:8968737|PMID:9013615 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9002704 Leukoencephalopathies ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15753437 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9003817 Sudden Hearing Loss susceptibility ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:SNP::2756A>G(human) PMID:16778415|REF_RGD_ID:8694081 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9004538 Hearing Loss susceptibility ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:SNP::2756A>G(human) PMID:21385350|REF_RGD_ID:7387225 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621283 D RGD:9068941 20200609 RGD protein:decreased activity:liver PMID:18936199|REF_RGD_ID:7207081 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9005695 Malnutrition ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16709328 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15753437|PMID:19159907 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9008939 Breast Neoplasms ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17595805 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:10323741|PMID:12154064|PMID:12375236|PMID:12923861|PMID:25227144|PMID:25741868|PMID:28492532|PMID:8968737|PMID:9013615 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9263 homocystinuria ISO RGD:731933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Homocystinuria PMID:12068375|PMID:25526710|PMID:25558065|PMID:25741868|PMID:25856670|PMID:28492532|PMID:28666289|PMID:32581362|PMID:8968736|PMID:9235907 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9279 hyperhomocysteinemia ISO RGD:731933 D RGD:9068941 20200609 RGD PMID:12068375|REF_RGD_ID:1601425 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9296 cleft lip ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9352 type 2 diabetes mellitus ISO RGD:621283 D RGD:9068941 20200609 RGD PMID:21818837|REF_RGD_ID:7207079 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9538 multiple myeloma susceptibility ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:polymorphism: :2756A>G(human) PMID:17655928|REF_RGD_ID:11075095 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:SNP::rs10925235(human) PMID:26605150|REF_RGD_ID:11531136 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:polymorphism: :66A>G(human) PMID:21618417|REF_RGD_ID:11531141 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:polymorphism: :2756A>G(human) PMID:22453148|REF_RGD_ID:11531137 12232190 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:polymorphism: :2756A>G(human) PMID:15159311|REF_RGD_ID:11531140 12232238 GID4 GID complex subunit 4 homolog gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1322085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 12232238 GID4 GID complex subunit 4 homolog gene DOID:0050777 Joubert syndrome ISO RGD:1322085 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12232238 GID4 GID complex subunit 4 homolog gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1322085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12232238 GID4 GID complex subunit 4 homolog gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1322085 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12232238 GID4 GID complex subunit 4 homolog gene DOID:12849 autistic disorder ISO RGD:1322085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12232238 GID4 GID complex subunit 4 homolog gene DOID:630 genetic disease ISO RGD:1322085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232248 MTMR4 myotubularin related protein 4 gene DOID:0050777 Joubert syndrome ISO RGD:1321134 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12232248 MTMR4 myotubularin related protein 4 gene DOID:0111096 Fanconi anemia complementation group O ISO RGD:1321134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group O PMID:28492532 12232248 MTMR4 myotubularin related protein 4 gene DOID:1790 malignant mesothelioma ISO RGD:1321134 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12232248 MTMR4 myotubularin related protein 4 gene DOID:630 genetic disease ISO RGD:1321134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232248 MTMR4 myotubularin related protein 4 gene DOID:767 muscular atrophy ISO RGD:1310306 D RGD:9068941 20200609 RGD protein:decreased expression:gastrocnemius PMID:19125695|REF_RGD_ID:7242174 12232283 FATE1 fetal and adult testis expressed 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12232283 FATE1 fetal and adult testis expressed 1 gene DOID:12849 autistic disorder ISO RGD:1353364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12232283 FATE1 fetal and adult testis expressed 1 gene DOID:630 genetic disease ISO RGD:1353364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232283 FATE1 fetal and adult testis expressed 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1353364 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15580283 12232303 SLITRK1 SLIT and NTRK like family member 1 gene DOID:0050587 trichotillomania ISO RGD:1318872 D RGD:7240710 20180130 OMIM 12232303 SLITRK1 SLIT and NTRK like family member 1 gene DOID:0050587 trichotillomania ISO RGD:1318872 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Trichotillomania PMID:20301778|PMID:25741868 12232303 SLITRK1 SLIT and NTRK like family member 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1318872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12232303 SLITRK1 SLIT and NTRK like family member 1 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:1318872 D RGD:7240710 20180130 OMIM 12232303 SLITRK1 SLIT and NTRK like family member 1 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:1318872 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Tourette syndrome PMID:17003809|PMID:17035247|PMID:18413575|PMID:19018236|PMID:20301778|PMID:20351724|PMID:22942103|PMID:23528612|PMID:23835198|PMID:23990902|PMID:25741868|PMID:27812321|PMID:28492532 12232303 SLITRK1 SLIT and NTRK like family member 1 gene DOID:630 genetic disease ISO RGD:1318872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232309 SEC22C SEC22 homolog C, vesicle trafficking protein gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1607079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 12232309 SEC22C SEC22 homolog C, vesicle trafficking protein gene DOID:630 genetic disease ISO RGD:1607079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232331 WNT10B Wnt family member 10B gene DOID:0090026 split hand-foot malformation 6 ISO RGD:1312744 D RGD:7240710 20210728 OMIM 12232331 WNT10B Wnt family member 10B gene DOID:0090026 split hand-foot malformation 6 ISO RGD:1312744 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 6 PMID:12072797|PMID:18515319|PMID:20635353|PMID:25741868|PMID:28492532 12232331 WNT10B Wnt family member 10B gene DOID:630 genetic disease ISO RGD:1312744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12232331 WNT10B Wnt family member 10B gene DOID:9001843 Selective Tooth Agenesis 8 ISO RGD:1312744 D RGD:7240710 20210728 OMIM 12232331 WNT10B Wnt family member 10B gene DOID:9001843 Selective Tooth Agenesis 8 ISO RGD:1312744 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 8 PMID:25741868|PMID:27321946|PMID:28492532 12232331 WNT10B Wnt family member 10B gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312744 D RGD:9068941 20210730 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 12232331 WNT10B Wnt family member 10B gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1312744 D RGD:9068941 20210730 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 12232331 WNT10B Wnt family member 10B gene DOID:9008939 Breast Neoplasms ISO RGD:1312744 D RGD:9068941 20210730 CTD CTD Direct Evidence: marker/mechanism PMID:12437293 12232331 WNT10B Wnt family member 10B gene DOID:9970 obesity ISO RGD:1312744 D RGD:9068941 20210730 RGD DNA:SNP:CDS:amino acid C256Y, mutant unable to activate WNT/beta-catenin signaling pathway PMID:16477437|REF_RGD_ID:2300029 12232331 WNT10B Wnt family member 10B gene DOID:9970 obesity ISO RGD:1312745 D RGD:9068941 20210730 RGD PMID:17578883|REF_RGD_ID:2326237 12232348 PLXNB3 plexin B3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1350171 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12232348 PLXNB3 plexin B3 gene DOID:0050476 Barth syndrome ISO RGD:1350171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12232348 PLXNB3 plexin B3 gene DOID:0050800 creatine transporter deficiency ISO RGD:1350171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 12232348 PLXNB3 plexin B3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12232348 PLXNB3 plexin B3 gene DOID:0080574 congenital disorder of glycosylation Iy ISO RGD:1350171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y 12232348 PLXNB3 plexin B3 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1350171 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 12232348 PLXNB3 plexin B3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1350171 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12232348 PLXNB3 plexin B3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1350171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12232348 PLXNB3 plexin B3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1350171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12232348 PLXNB3 plexin B3 gene DOID:12849 autistic disorder ISO RGD:1350171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12232348 PLXNB3 plexin B3 gene DOID:13628 favism ISO RGD:1350171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12232348 PLXNB3 plexin B3 gene DOID:2729 dyskeratosis congenita ISO RGD:1350171 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12232348 PLXNB3 plexin B3 gene DOID:607 paraplegia ISO RGD:1350171 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12232348 PLXNB3 plexin B3 gene DOID:630 genetic disease ISO RGD:1350171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232348 PLXNB3 plexin B3 gene DOID:9002720 Splenomegaly ISO RGD:1350171 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12232348 PLXNB3 plexin B3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12232388 TAMALIN trafficking regulator and scaffold protein tamalin gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:733545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 12232388 TAMALIN trafficking regulator and scaffold protein tamalin gene DOID:630 genetic disease ISO RGD:733545 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232400 LOC610882 keratin-associated protein 12-1-like gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1350615 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 12232400 LOC610882 keratin-associated protein 12-1-like gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1350615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12232400 LOC610882 keratin-associated protein 12-1-like gene DOID:0110266 cataract 9 multiple types ISO RGD:1350615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12232400 LOC610882 keratin-associated protein 12-1-like gene DOID:12849 autistic disorder ISO RGD:1350615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12232400 LOC610882 keratin-associated protein 12-1-like gene DOID:630 genetic disease ISO RGD:1350615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232400 LOC610882 keratin-associated protein 12-1-like gene DOID:891 progressive myoclonus epilepsy ISO RGD:1350615 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12232400 LOC610882 keratin-associated protein 12-1-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12232400 LOC610882 keratin-associated protein 12-1-like gene DOID:9263 homocystinuria ISO RGD:1350615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12232400 LOC610882 keratin-associated protein 12-1-like gene DOID:9562 primary ciliary dyskinesia ISO RGD:1350615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12232405 UEVLD UEV and lactate/malate dehyrogenase domains gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1605360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 12232405 UEVLD UEV and lactate/malate dehyrogenase domains gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1605360 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 12232405 UEVLD UEV and lactate/malate dehyrogenase domains gene DOID:1059 intellectual disability ISO RGD:1605360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12232405 UEVLD UEV and lactate/malate dehyrogenase domains gene DOID:630 genetic disease ISO RGD:1605360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232466 HELT helt bHLH transcription factor gene DOID:630 genetic disease ISO RGD:2292703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232474 MIR181D microRNA mir-181d gene DOID:0060041 autism spectrum disorder ISO RGD:1608166 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:20868653 12232474 MIR181D microRNA mir-181d gene DOID:1540 parathyroid carcinoma ISO RGD:1351688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12232474 MIR181D microRNA mir-181d gene DOID:3963 thyroid gland carcinoma ISO RGD:1351688 D RGD:9068941 20220428 RGD RNA:increased expression:thyroid gland PMID:16728577|REF_RGD_ID:152023739 12232474 MIR181D microRNA mir-181d gene DOID:3963 thyroid gland carcinoma ISO RGD:1608166 D RGD:9068941 20220428 RGD RNA:increased expression:thyroid gland PMID:16728577|REF_RGD_ID:152023739 12232474 MIR181D microRNA mir-181d gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12232499 SEC11A SEC11 homolog A, signal peptidase complex subunit gene DOID:0080600 COVID-19 ISO RGD:1344783 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12232499 SEC11A SEC11 homolog A, signal peptidase complex subunit gene DOID:2717 Bloom syndrome ISO RGD:1344783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12232499 SEC11A SEC11 homolog A, signal peptidase complex subunit gene DOID:630 genetic disease ISO RGD:1344783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232499 SEC11A SEC11 homolog A, signal peptidase complex subunit gene DOID:9256 colorectal cancer ISO RGD:1344783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12232515 SOCS5 suppressor of cytokine signaling 5 gene DOID:3883 Lynch syndrome ISO RGD:1346055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12232515 SOCS5 suppressor of cytokine signaling 5 gene DOID:630 genetic disease ISO RGD:1346055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232521 POLK DNA polymerase kappa gene DOID:0070064 autosomal dominant intellectual developmental disorder 34 ISO RGD:1343998 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 34 PMID:25741868 12232521 POLK DNA polymerase kappa gene DOID:10283 prostate cancer ISO RGD:1343998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:25741868|PMID:26046662 12232521 POLK DNA polymerase kappa gene DOID:1059 intellectual disability ISO RGD:1343998 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12232521 POLK DNA polymerase kappa gene DOID:10907 microcephaly ISO RGD:1343998 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12232521 POLK DNA polymerase kappa gene DOID:1826 epilepsy ISO RGD:1343998 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26046662 12232521 POLK DNA polymerase kappa gene DOID:3068 glioblastoma ISO RGD:1343998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26651356 12232521 POLK DNA polymerase kappa gene DOID:3323 Sandhoff disease ISO RGD:1343998 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 12232521 POLK DNA polymerase kappa gene DOID:630 genetic disease ISO RGD:1343998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232521 POLK DNA polymerase kappa gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26046662 12232521 POLK DNA polymerase kappa gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12232521 POLK DNA polymerase kappa gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1343998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26651356 12232552 HIGD2A HIG1 hypoxia inducible domain family member 2A gene DOID:0060071 pre-malignant neoplasm ISO RGD:1603886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12232552 HIGD2A HIG1 hypoxia inducible domain family member 2A gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1603886 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12232552 HIGD2A HIG1 hypoxia inducible domain family member 2A gene DOID:0112103 Sotos syndrome 1 ISO RGD:1603886 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12232552 HIGD2A HIG1 hypoxia inducible domain family member 2A gene DOID:630 genetic disease ISO RGD:1603886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232552 HIGD2A HIG1 hypoxia inducible domain family member 2A gene DOID:9007188 Liver Neoplasms ISO RGD:1603886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12232558 NRGN neurogranin gene DOID:0110877 holoprosencephaly 11 ISO RGD:733655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12232558 NRGN neurogranin gene DOID:0111723 Jacobsen Syndrome ISO RGD:733655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12232558 NRGN neurogranin gene DOID:10652 Alzheimer's disease ISO RGD:733655 D RGD:9068941 20200609 RGD PMID:9329454|REF_RGD_ID:9835394 12232558 NRGN neurogranin gene DOID:11832 visual epilepsy ISO RGD:61833 D RGD:9068941 20200609 RGD PMID:11054811|REF_RGD_ID:9685329 12232558 NRGN neurogranin gene DOID:1459 hypothyroidism ISO RGD:61833 D RGD:9068941 20200609 RGD protein:decreased expression:dentate gyrus of hippocampal formation, Ammon's horn PMID:20041985|REF_RGD_ID:9835423 12232558 NRGN neurogranin gene DOID:1459 hypothyroidism treatment ISO RGD:61833 D RGD:9068941 20200609 RGD PMID:16004982|REF_RGD_ID:9835430 12232558 NRGN neurogranin gene DOID:5419 schizophrenia ISO RGD:733655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12232558 NRGN neurogranin gene DOID:630 genetic disease ISO RGD:733655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232558 NRGN neurogranin gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:61833 D RGD:9068941 20200609 RGD PMID:17579784|REF_RGD_ID:9835426 12232558 NRGN neurogranin gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12232558 NRGN neurogranin gene DOID:9007661 Dwarfism ISO RGD:733655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12232558 NRGN neurogranin gene DOID:9007980 Sleep Deprivation ISO RGD:61833 D RGD:9068941 20200609 RGD PMID:7583240|REF_RGD_ID:9835425 12232566 RBM23 RNA binding motif protein 23 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1352302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12232566 RBM23 RNA binding motif protein 23 gene DOID:630 genetic disease ISO RGD:1352302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232566 RBM23 RNA binding motif protein 23 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1352302 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12232566 RBM23 RNA binding motif protein 23 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1352302 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12232587 GAPVD1 GTPase activating protein and VPS9 domains 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12232627 EDAR ectodysplasin A receptor gene DOID:0050591 tooth agenesis ISO RGD:1344202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligodontia PMID:23210707 12232627 EDAR ectodysplasin A receptor gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:1344202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:10431241|PMID:18231121|PMID:20236127|PMID:20979233|PMID:25741868|PMID:28492532 12232627 EDAR ectodysplasin A receptor gene DOID:0111201 distal hereditary motor neuronopathy type 7A ISO RGD:1344202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:28492532 12232627 EDAR ectodysplasin A receptor gene DOID:0111654 ectodermal dysplasia 11B ISO RGD:1344202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive PMID:10431241|PMID:11035039|PMID:15013427|PMID:16435307|PMID:18231121|PMID:20979233|PMID:23401279|PMID:25741868|PMID:27657131|PMID:28492532 12232627 EDAR ectodysplasin A receptor gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1344202 D RGD:7240710 20180130 OMIM 12232627 EDAR ectodysplasin A receptor gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1344202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant PMID:10431241|PMID:10431242|PMID:11035039|PMID:15013427|PMID:16029325|PMID:16199547|PMID:16435307|PMID:17125505|PMID:17576681|PMID:18065779|PMID:18231121|PMID:18561327|PMID:18704500|PMID:18854857|PMID:19438931|PMID:20236127|PMID:20979233|PMID:21771270|PMID:21876339|PMID:22032522|PMID:23401279|PMID:23991204|PMID:24033266|PMID:24641098|PMID:24884697|PMID:25741868|PMID:26077850|PMID:26336973|PMID:27305980|PMID:27657131|PMID:28265457|PMID:28492532|PMID:28981473|PMID:32274043|PMID:32325225|PMID:33205897|PMID:9536098 12232627 EDAR ectodysplasin A receptor gene DOID:0111665 ectodermal dysplasia 10B ISO RGD:1344202 D RGD:7240710 20180130 OMIM 12232627 EDAR ectodysplasin A receptor gene DOID:0111665 ectodermal dysplasia 10B ISO RGD:1344202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive PMID:10431241|PMID:11279189|PMID:15373768|PMID:16435307|PMID:18065779|PMID:18231121|PMID:18561327|PMID:18704500|PMID:18816645|PMID:20236127|PMID:20979233|PMID:22032522|PMID:24033266|PMID:25741868|PMID:28492532 12232627 EDAR ectodysplasin A receptor gene DOID:10754 otitis media treatment ISO RGD:1557662 D RGD:9068941 20200609 RGD PMID:31028034|REF_RGD_ID:14398763 12232627 EDAR ectodysplasin A receptor gene DOID:13714 anodontia ISO RGD:1344202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic oligodontia PMID:10431241|PMID:17125505|PMID:18065779|PMID:18561327|PMID:18704500|PMID:24884697|PMID:25741868|PMID:26336973|PMID:27305980|PMID:28492532 12232627 EDAR ectodysplasin A receptor gene DOID:14793 hypohidrotic ectodermal dysplasia ISO RGD:1344202 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia PMID:18065779|PMID:18561327|PMID:18704500|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28808699 12232627 EDAR ectodysplasin A receptor gene DOID:2121 ectodermal dysplasia ISO RGD:1344202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant PMID:16435307|PMID:18065779|PMID:18561327|PMID:18704500|PMID:18816645|PMID:23210707|PMID:24033266|PMID:25741868|PMID:28492532 12232627 EDAR ectodysplasin A receptor gene DOID:630 genetic disease ISO RGD:1344202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23401279|PMID:28492532 12232627 EDAR ectodysplasin A receptor gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1344202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ENCEPHALOPATHY, ACUTE NECROTIZING, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:28492532 12232643 TLL1 tolloid like 1 gene DOID:0110111 atrial heart septal defect 6 ISO RGD:1314549 D RGD:7240710 20180130 OMIM 12232643 TLL1 tolloid like 1 gene DOID:0110111 atrial heart septal defect 6 ISO RGD:1314549 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Atrial septal defect 6 PMID:10331975|PMID:18830233|PMID:25741868|PMID:31570783 12232643 TLL1 tolloid like 1 gene DOID:1681 heart septal defect ISO RGD:1550401 D RGD:9068941 20230202 RGD PMID:10331975|REF_RGD_ID:155882595 12232643 TLL1 tolloid like 1 gene DOID:1682 congenital heart disease ISO RGD:1314549 D RGD:9068941 20230202 RGD DNA:insertion:exon:exon 10 (human) PMID:22883091|REF_RGD_ID:155882571 12232643 TLL1 tolloid like 1 gene DOID:3393 coronary artery disease severity ISO RGD:1314549 D RGD:9068941 20230202 RGD associated with type 2 diabetes:DNA:SNP:CDS:rs1503298 (human) PMID:21911782|REF_RGD_ID:155883159 12232643 TLL1 tolloid like 1 gene DOID:630 genetic disease ISO RGD:1314549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232671 CCDC102B coiled-coil domain containing 102B gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1344849 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12232671 CCDC102B coiled-coil domain containing 102B gene DOID:11372 megacolon ISO RGD:1344849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12232671 CCDC102B coiled-coil domain containing 102B gene DOID:630 genetic disease ISO RGD:1344849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232671 CCDC102B coiled-coil domain containing 102B gene DOID:8445 intestinal volvulus ISO RGD:1344849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12232671 CCDC102B coiled-coil domain containing 102B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12232671 CCDC102B coiled-coil domain containing 102B gene DOID:9008419 Volvulus Of Midgut ISO RGD:1344849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12232700 RAD23A RAD23 homolog A, nucleotide excision repair protein gene DOID:0050990 episodic ataxia type 2 ISO RGD:1320493 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12232700 RAD23A RAD23 homolog A, nucleotide excision repair protein gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1320493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12232700 RAD23A RAD23 homolog A, nucleotide excision repair protein gene DOID:0111254 glutaric acidemia I ISO RGD:1320493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12232700 RAD23A RAD23 homolog A, nucleotide excision repair protein gene DOID:3413 alpha-mannosidosis ISO RGD:1320493 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12232700 RAD23A RAD23 homolog A, nucleotide excision repair protein gene DOID:630 genetic disease ISO RGD:1320493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232700 RAD23A RAD23 homolog A, nucleotide excision repair protein gene DOID:9000217 Stomach Neoplasms ISO RGD:1320493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12232700 RAD23A RAD23 homolog A, nucleotide excision repair protein gene DOID:9000918 Disease Progression ISO RGD:1320493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12232717 IGSF22 immunoglobulin superfamily member 22 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1601807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 12232717 IGSF22 immunoglobulin superfamily member 22 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1601807 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 12232717 IGSF22 immunoglobulin superfamily member 22 gene DOID:1059 intellectual disability ISO RGD:1601807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12232717 IGSF22 immunoglobulin superfamily member 22 gene DOID:630 genetic disease ISO RGD:1601807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232743 BLK BLK proto-oncogene, Src family tyrosine kinase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1318874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young 12232743 BLK BLK proto-oncogene, Src family tyrosine kinase gene DOID:0111109 maturity-onset diabetes of the young type 11 ISO RGD:1318874 D RGD:7240710 20180130 OMIM 12232743 BLK BLK proto-oncogene, Src family tyrosine kinase gene DOID:0111109 maturity-onset diabetes of the young type 11 ISO RGD:1318874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 11 PMID:18204098|PMID:18414213|PMID:19667185|PMID:24023612|PMID:24033266|PMID:25741868|PMID:27634015|PMID:27913849|PMID:28095440|PMID:28492532|PMID:31101814|PMID:31670388|PMID:31683055|PMID:32313195|PMID:33116287 12232743 BLK BLK proto-oncogene, Src family tyrosine kinase gene DOID:13378 Kawasaki disease ISO RGD:1318874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446961 12232743 BLK BLK proto-oncogene, Src family tyrosine kinase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1318874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 12232743 BLK BLK proto-oncogene, Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:1318874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12232743 BLK BLK proto-oncogene, Src family tyrosine kinase gene DOID:7148 rheumatoid arthritis ISO RGD:1318874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 12232743 BLK BLK proto-oncogene, Src family tyrosine kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12232743 BLK BLK proto-oncogene, Src family tyrosine kinase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1308859 D RGD:9068941 20200609 RGD mRNA:increased expression:left ventricle (rat) PMID:17562528|REF_RGD_ID:1642307 12232743 BLK BLK proto-oncogene, Src family tyrosine kinase gene DOID:9074 systemic lupus erythematosus ISO RGD:1318874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus PMID:18204098|PMID:19667185|PMID:24023612|PMID:25741868|PMID:28492532|PMID:29663334|PMID:30191644|PMID:31101814|PMID:31670388|PMID:31683055|PMID:32313195 12232743 BLK BLK proto-oncogene, Src family tyrosine kinase gene DOID:9351 diabetes mellitus ISO RGD:1318874 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18204098|PMID:18414213|PMID:19667185|PMID:24023612|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31670388|PMID:32313195 12232760 KIF1A kinesin family member 1A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25265257|PMID:25326635|PMID:25741868|PMID:26125038|PMID:26354034|PMID:28492532|PMID:28554332|PMID:32935419|PMID:33880452 12232760 KIF1A kinesin family member 1A gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1312759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:25741868|PMID:26467025|PMID:28492532 12232760 KIF1A kinesin family member 1A gene DOID:0050888 syndromic intellectual disability ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452 12232760 KIF1A kinesin family member 1A gene DOID:0050890 synucleinopathy ISO RGD:1304996 D RGD:9068941 20200609 RGD PMID:19295143|REF_RGD_ID:11049591 12232760 KIF1A kinesin family member 1A gene DOID:0050952 spastic ataxia ISO RGD:1312759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 12232760 KIF1A kinesin family member 1A gene DOID:0070039 NESCAV syndrome ISO RGD:1312759 D RGD:7240710 20180130 OMIM 12232760 KIF1A kinesin family member 1A gene DOID:0070039 NESCAV syndrome ISO RGD:1312759 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 9 | ClinVar Annotator: match by term: NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT PMID:17576681|PMID:21376300|PMID:25253658|PMID:25265257|PMID:25326635|PMID:25533962|PMID:25741868|PMID:26077850|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:26486474|PMID:26994895|PMID:27034427|PMID:27124789|PMID:27146152|PMID:28106320|PMID:28333917|PMID:28492532|PMID:28554332|PMID:28708303|PMID:28832565|PMID:28834584|PMID:28970574|PMID:29915382|PMID:30144970|PMID:30385166|PMID:30564185|PMID:31488895|PMID:31616253|PMID:31785789|PMID:31796088|PMID:31805580|PMID:31813911|PMID:32096284|PMID:32165824|PMID:32746806|PMID:32860008|PMID:33753861|PMID:33880452|PMID:9536098 12232760 KIF1A kinesin family member 1A gene DOID:0070147 hereditary sensory neuropathy type 2C ISO RGD:1312759 D RGD:7240710 20180130 OMIM 12232760 KIF1A kinesin family member 1A gene DOID:0070147 hereditary sensory neuropathy type 2C ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIC | ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type 2C PMID:17576681|PMID:21376300|PMID:21820098|PMID:22258533|PMID:25265257|PMID:25741868|PMID:26077850|PMID:26467025|PMID:27034427|PMID:27146152|PMID:28106320|PMID:28333917|PMID:28492532|PMID:28970574|PMID:29915382|PMID:31488895|PMID:31616253|PMID:9536098 12232760 KIF1A kinesin family member 1A gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:21820098|PMID:22258533|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:28106320|PMID:28492532|PMID:28554332|PMID:28970574|PMID:30564185|PMID:31616253|PMID:32096284|PMID:32860008 12232760 KIF1A kinesin family member 1A gene DOID:0070161 hereditary sensory and autonomic neuropathy type 2 ISO RGD:1312759 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 2 PMID:25741868|PMID:26467025|PMID:28492532 12232760 KIF1A kinesin family member 1A gene DOID:0080539 PEHO syndrome ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PEHO syndrome PMID:21376300|PMID:25253658|PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452 12232760 KIF1A kinesin family member 1A gene DOID:0081120 Graves ophthalmopathy ISO RGD:1312759 D RGD:9068941 20200609 RGD PMID:26451909|REF_RGD_ID:12911230 12232760 KIF1A kinesin family member 1A gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1312759 D RGD:7240710 20180130 OMIM 12232760 KIF1A kinesin family member 1A gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1312759 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive PMID:16081310|PMID:16199547|PMID:16434418|PMID:17576681|PMID:18414213|PMID:20020533|PMID:20691407|PMID:21376300|PMID:21384162|PMID:21487076|PMID:21820098|PMID:22258533|PMID:24088041|PMID:24715439|PMID:25140959|PMID:25253658|PMID:25265257|PMID:25326635|PMID:25533962|PMID:25585697|PMID:25640679|PMID:25741868|PMID:26077850|PMID:26125038|PMID:26350204|PMID:26354034|PMID:26410750|PMID:26467025|PMID:26486474|PMID:26633545|PMID:26752160|PMID:26994895|PMID:27034427|PMID:27124789|PMID:27146152|PMID:27681307|PMID:28106320|PMID:28333917|PMID:28362824|PMID:28492532|PMID:28554332|PMID:28708303|PMID:28832565|PMID:28834584|PMID:28970574|PMID:29159194|PMID:29590070|PMID:29915382|PMID:29934652|PMID:30144970|PMID:30385166|PMID:30564185|PMID:30848064|PMID:31227335|PMID:31455732|PMID:31488895|PMID:31616253|PMID:31628766|PMID:31785789|PMID:31796088|PMID:31805580|PMID:31813911|PMID:32096284|PMID:32165824|PMID:32746806|PMID:32860008|PMID:32935419|PMID:33753861|PMID:33880452|PMID:34354735|PMID:34487232|PMID:34782662|PMID:9536098 12232760 KIF1A kinesin family member 1A gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1312759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12232760 KIF1A kinesin family member 1A gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1312759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 12232760 KIF1A kinesin family member 1A gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1312759 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12232760 KIF1A kinesin family member 1A gene DOID:1059 intellectual disability ISO RGD:1312759 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26077850|PMID:26467025|PMID:28492532 12232760 KIF1A kinesin family member 1A gene DOID:12849 autistic disorder ISO RGD:1312759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30559488 12232760 KIF1A kinesin family member 1A gene DOID:1826 epilepsy ISO RGD:1312759 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12232760 KIF1A kinesin family member 1A gene DOID:2476 hereditary spastic paraplegia ISO RGD:1312759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:21376300|PMID:25265257|PMID:25585697|PMID:25741868|PMID:26077850|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:27034427|PMID:27681307|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28970574|PMID:29159194|PMID:29590070|PMID:31488895|PMID:32096284|PMID:32860008 12232760 KIF1A kinesin family member 1A gene DOID:2476 hereditary spastic paraplegia ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:21376300|PMID:25265257|PMID:25585697|PMID:25741868|PMID:26077850|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:27034427|PMID:27681307|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28970574|PMID:29159194|PMID:29590070|PMID:31488895|PMID:31796088|PMID:32096284|PMID:32860008|PMID:33880452 12232760 KIF1A kinesin family member 1A gene DOID:2785 Dandy-Walker syndrome ISO RGD:1312759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:25741868 12232760 KIF1A kinesin family member 1A gene DOID:607 paraplegia ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:17576681|PMID:24088041|PMID:25265257|PMID:25326635|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:26633545|PMID:28492532|PMID:28554332|PMID:28834584|PMID:32935419|PMID:33880452|PMID:9536098 12232760 KIF1A kinesin family member 1A gene DOID:630 genetic disease ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:21376300|PMID:25209998|PMID:25265257|PMID:25533962|PMID:25741868|PMID:25975756|PMID:26125038|PMID:26350204|PMID:26354034|PMID:26467025|PMID:26486474|PMID:27034427|PMID:27146152|PMID:27681307|PMID:28106320|PMID:28333917|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28970574|PMID:29589274|PMID:29590070|PMID:29915382|PMID:30564185|PMID:31488895|PMID:31628766|PMID:31805580|PMID:32096284|PMID:32860008|PMID:33880452|PMID:9536098 12232760 KIF1A kinesin family member 1A gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1312759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12232760 KIF1A kinesin family member 1A gene DOID:9005219 Abnormal Reflexes ISO RGD:1312759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperreflexia PMID:25741868|PMID:28492532|PMID:31488895 12232760 KIF1A kinesin family member 1A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1304996 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:23776493|REF_RGD_ID:11059542 12232760 KIF1A kinesin family member 1A gene DOID:9008086 Developmental Disabilities ISO RGD:1312759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30559488 12232760 KIF1A kinesin family member 1A gene DOID:9008582 Developmental Disease ISO RGD:1312759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12232760 KIF1A kinesin family member 1A gene DOID:9351 diabetes mellitus ISO RGD:1312759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23776493 12232839 ASAP3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 gene DOID:630 genetic disease ISO RGD:1346642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232839 ASAP3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1346642 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12232839 ASAP3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 gene DOID:9256 colorectal cancer ISO RGD:1618153 D RGD:9068941 20220811 RGD PMID:28502111|REF_RGD_ID:153305906 12232839 ASAP3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1346642 D RGD:9068941 20220811 RGD mRNA, protein:increased expression:colon (human) PMID:28502111|REF_RGD_ID:153305906 12232863 CDK18 cyclin dependent kinase 18 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1319906 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12232863 CDK18 cyclin dependent kinase 18 gene DOID:12849 autistic disorder ISO RGD:1319906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12232863 CDK18 cyclin dependent kinase 18 gene DOID:1540 parathyroid carcinoma ISO RGD:1319906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12232863 CDK18 cyclin dependent kinase 18 gene DOID:630 genetic disease ISO RGD:1319906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232863 CDK18 cyclin dependent kinase 18 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1319906 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12232863 CDK18 cyclin dependent kinase 18 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12232882 MACROH2A2 macroH2A.2 histone gene DOID:630 genetic disease ISO RGD:1347144 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232894 RGR retinal G protein coupled receptor gene DOID:0050795 cone dystrophy ISO RGD:1319366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:10581022|PMID:25741868|PMID:27623334|PMID:28492532|PMID:30337596|PMID:34229535 12232894 RGR retinal G protein coupled receptor gene DOID:0110394 retinitis pigmentosa 44 ISO RGD:1319366 D RGD:7240710 20180130 OMIM 12232894 RGR retinal G protein coupled receptor gene DOID:0110394 retinitis pigmentosa 44 ISO RGD:1319366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 44 PMID:10581022|PMID:17576681|PMID:25741868|PMID:27623334|PMID:27748892|PMID:28041643|PMID:28492532|PMID:28838317|PMID:30337596|PMID:30347075|PMID:33546218|PMID:34229535|PMID:9536098 12232894 RGR retinal G protein coupled receptor gene DOID:10584 retinitis pigmentosa ISO RGD:1319366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10581022|PMID:16199547|PMID:24265693|PMID:25741868|PMID:28492532 12232894 RGR retinal G protein coupled receptor gene DOID:630 genetic disease ISO RGD:1319366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12232894 RGR retinal G protein coupled receptor gene DOID:8501 fundus dystrophy ISO RGD:1319366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10581022|PMID:28041643 12232905 BATF3 basic leucine zipper ATF-like transcription factor 3 gene DOID:1024 leprosy ISO RGD:1602111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25642632 12232905 BATF3 basic leucine zipper ATF-like transcription factor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1602111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12232905 BATF3 basic leucine zipper ATF-like transcription factor 3 gene DOID:630 genetic disease ISO RGD:1602111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232905 BATF3 basic leucine zipper ATF-like transcription factor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12232962 ZDHHC12 zinc finger DHHC-type palmitoyltransferase 12 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1315298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12232962 ZDHHC12 zinc finger DHHC-type palmitoyltransferase 12 gene DOID:630 genetic disease ISO RGD:1315298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12232975 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1342669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12232975 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1342669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12232975 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:0060879 primary hypomagnesemia ISO RGD:1342669 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11062458 12232975 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:0060885 renal hypomagnesemia 2 ISO RGD:1342669 D RGD:7240710 20180130 OMIM 12232975 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:0060885 renal hypomagnesemia 2 ISO RGD:1342669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant | ClinVar Annotator: match by term: Renal hypomagnesemia 2 PMID:11062458|PMID:11929868|PMID:12763860|PMID:17576681|PMID:25741868|PMID:25765846|PMID:28492532|PMID:3298795|PMID:9536098 12232975 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:0080690 RASopathy ISO RGD:1342669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12232975 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1342669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12232975 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:0111123 nephronophthisis 15 ISO RGD:1342669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 12232975 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:1342669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12232975 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:1342669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12232975 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:1342669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12232975 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:1059 intellectual disability ISO RGD:1342669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12232975 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:10763 hypertension ISO RGD:1342669 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 12232975 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:630 genetic disease ISO RGD:1342669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12232975 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342669 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12232975 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1342669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12232975 FXYD2 FXYD domain containing ion transport regulator 2 gene DOID:9007661 Dwarfism ISO RGD:1342669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12233010 NAA80 N-alpha-acetyltransferase 80, NatH catalytic subunit gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12233010 NAA80 N-alpha-acetyltransferase 80, NatH catalytic subunit gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12233010 NAA80 N-alpha-acetyltransferase 80, NatH catalytic subunit gene DOID:630 genetic disease ISO RGD:1350941 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233010 NAA80 N-alpha-acetyltransferase 80, NatH catalytic subunit gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1350941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12233010 NAA80 N-alpha-acetyltransferase 80, NatH catalytic subunit gene DOID:9562 primary ciliary dyskinesia ISO RGD:1350941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12233029 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1601958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NAFLD1 | ClinVar Annotator: match by term: Susceptibility to Nonalcoholic Fatty Liver Disease PMID:18820647|PMID:21381068|PMID:24033266|PMID:24917523|PMID:25290313|PMID:26200108|PMID:27288299|PMID:28073161|PMID:28492532|PMID:29158695 12233029 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:1601958 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:26740948|REF_RGD_ID:13463463 12233029 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1601958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12233029 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1601958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12233029 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1601958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19946271|PMID:26482880 12233029 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:1459 hypothyroidism treatment ISO RGD:1595843 D RGD:9068941 20200609 RGD PMID:19619606|REF_RGD_ID:14985223 12233029 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:3393 coronary artery disease ISO RGD:1601958 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus;DNA:SNP: :rs738409 (p.I148M) (human) PMID:31377187|REF_RGD_ID:14981594 12233029 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:5082 liver cirrhosis ISO RGD:1601958 D RGD:9068941 20200609 RGD associated with non-alcoholic fatty liver disease:DNA:SNP: :rs738409 (p.I148M) (human) PMID:20648474|REF_RGD_ID:14981584 12233029 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1601958 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNP: :rs738409 (p.I148M) (human) PMID:29674183|REF_RGD_ID:14981591 12233029 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:5082 liver cirrhosis severity ISO RGD:1601958 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus;DNA:SNP: :rs738409 (p.I148M) (human) PMID:31377187|REF_RGD_ID:14981594 12233029 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:630 genetic disease ISO RGD:1601958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233029 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1601958 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNP: :rs738409 (p.I148M) (human) PMID:21319195|REF_RGD_ID:14981585 12233029 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1601958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19946271 12233029 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1601958 D RGD:9068941 20200609 RGD DNA:SNP: :rs738409 (p.I148M) (human) PMID:31377187|REF_RGD_ID:14981594 12233029 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:9452 fatty liver disease ISO RGD:1601958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25678388 12233029 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:9452 fatty liver disease ISO RGD:1601958 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic;DNA:SNP: :rs738409 (p.I148M) (human) PMID:25284145|REF_RGD_ID:14981590 12233029 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:9452 fatty liver disease ISO RGD:1601958 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNP: :rs738409 (p.I148M) (human) PMID:21319195|REF_RGD_ID:14981585 12233029 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:9452 fatty liver disease ISO RGD:1601958 D RGD:9068941 20200609 RGD associated with Wilson disease;DNA:SNP: :rs738409 (p.I148M) (human) PMID:25678388|REF_RGD_ID:11055420 12233029 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:9452 fatty liver disease severity ISO RGD:1601958 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic;DNA:SNP: :rs738409 (p.I148M) (human) PMID:23564580|REF_RGD_ID:14981583 12233029 PNPLA3 patatin like phospholipase domain containing 3 gene DOID:9970 obesity ISO RGD:1595843 D RGD:9068941 20200609 RGD PMID:11431482|REF_RGD_ID:14985224 12233042 SUPT4H1 SPT4 homolog, DSIF elongation factor subunit gene DOID:0050777 Joubert syndrome ISO RGD:1314951 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12233042 SUPT4H1 SPT4 homolog, DSIF elongation factor subunit gene DOID:1059 intellectual disability ISO RGD:1314951 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12233042 SUPT4H1 SPT4 homolog, DSIF elongation factor subunit gene DOID:630 genetic disease ISO RGD:1314951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233051 ADGRF2 adhesion G protein-coupled receptor F2 gene DOID:630 genetic disease ISO RGD:1343922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233068 DUSP2 dual specificity phosphatase 2 gene DOID:0080600 COVID-19 ISO RGD:1314060 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12233068 DUSP2 dual specificity phosphatase 2 gene DOID:1059 intellectual disability ISO RGD:1314060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12233068 DUSP2 dual specificity phosphatase 2 gene DOID:5419 schizophrenia ISO RGD:1314060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12233068 DUSP2 dual specificity phosphatase 2 gene DOID:630 genetic disease ISO RGD:1314060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233068 DUSP2 dual specificity phosphatase 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1314060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12233076 EIF1AX eukaryotic translation initiation factor 1A X-linked gene DOID:0060599 Nance-Horan syndrome ISO RGD:1351588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12233076 EIF1AX eukaryotic translation initiation factor 1A X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12233076 EIF1AX eukaryotic translation initiation factor 1A X-linked gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1351588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12233076 EIF1AX eukaryotic translation initiation factor 1A X-linked gene DOID:0111042 glycogen storage disease IXa ISO RGD:1351588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12233076 EIF1AX eukaryotic translation initiation factor 1A X-linked gene DOID:12849 autistic disorder ISO RGD:1351588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12233076 EIF1AX eukaryotic translation initiation factor 1A X-linked gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1351588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12233076 EIF1AX eukaryotic translation initiation factor 1A X-linked gene DOID:6039 uveal melanoma ISO RGD:1351588 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:23793026 12233076 EIF1AX eukaryotic translation initiation factor 1A X-linked gene DOID:630 genetic disease ISO RGD:1351588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233076 EIF1AX eukaryotic translation initiation factor 1A X-linked gene DOID:6438 malignant choroid melanoma ISO RGD:1351588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Choroidal melanoma PMID:25741868 12233076 EIF1AX eukaryotic translation initiation factor 1A X-linked gene DOID:9000965 Neoplasm Metastasis ISO RGD:1351588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 12233076 EIF1AX eukaryotic translation initiation factor 1A X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12233076 EIF1AX eukaryotic translation initiation factor 1A X-linked gene DOID:9538 multiple myeloma ISO RGD:1351588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12233087 GPR137 G protein-coupled receptor 137 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12233087 GPR137 G protein-coupled receptor 137 gene DOID:1059 intellectual disability ISO RGD:1604608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12233087 GPR137 G protein-coupled receptor 137 gene DOID:3070 high grade glioma ISO RGD:1604608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12233087 GPR137 G protein-coupled receptor 137 gene DOID:630 genetic disease ISO RGD:1604608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233153 LRRN4CL LRRN4 C-terminal like gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1603349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 12233153 LRRN4CL LRRN4 C-terminal like gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12233153 LRRN4CL LRRN4 C-terminal like gene DOID:1059 intellectual disability ISO RGD:1603349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12233153 LRRN4CL LRRN4 C-terminal like gene DOID:630 genetic disease ISO RGD:1603349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233212 FAM177A1 family with sequence similarity 177 member A1 gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:30308104 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:28492532 12233212 FAM177A1 family with sequence similarity 177 member A1 gene DOID:630 genetic disease ISO RGD:30308104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233212 FAM177A1 family with sequence similarity 177 member A1 gene DOID:9003816 Macrocephaly ISO RGD:30308104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25558065 12233212 FAM177A1 family with sequence similarity 177 member A1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:30308104 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12233225 GRXCR2 glutaredoxin and cysteine rich domain containing 2 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:2301277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12233225 GRXCR2 glutaredoxin and cysteine rich domain containing 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:2301277 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12233225 GRXCR2 glutaredoxin and cysteine rich domain containing 2 gene DOID:0110462 autosomal recessive nonsyndromic deafness 101 ISO RGD:2301277 D RGD:7240710 20180130 OMIM 12233225 GRXCR2 glutaredoxin and cysteine rich domain containing 2 gene DOID:0110462 autosomal recessive nonsyndromic deafness 101 ISO RGD:2301277 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 101 PMID:24619944|PMID:25741868|PMID:28492532 12233225 GRXCR2 glutaredoxin and cysteine rich domain containing 2 gene DOID:630 genetic disease ISO RGD:2301277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12233225 GRXCR2 glutaredoxin and cysteine rich domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2301277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12233225 GRXCR2 glutaredoxin and cysteine rich domain containing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2301277 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type PMID:15181170|PMID:15351195|PMID:16401742|PMID:19578034|PMID:19752458|PMID:21880868|PMID:22647225|PMID:23426270|PMID:23811324|PMID:24122062|PMID:24259288|PMID:24331360|PMID:24508722|PMID:25193669|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29029963|PMID:30255931|PMID:30373890|PMID:31571979|PMID:31658717|PMID:31669236|PMID:32234506 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0050700 cardiomyopathy ISO RGD:732179 D RGD:9068941 20200609 RGD PMID:17310215|REF_RGD_ID:8694182 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0050753 cerebellar ataxia ISO RGD:732179 D RGD:9068941 20200609 RGD associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations:cds: PMID:20803511|REF_RGD_ID:8694192 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:732179 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary progressive multiple sclerosis PMID:16401742|PMID:21880868|PMID:25741868|PMID:26467025|PMID:28480171|PMID:28492532|PMID:32504279 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0050908 myelodysplastic syndrome ISO RGD:732180 D RGD:9068941 20220825 MouseDO OMIM:614286 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0060794 hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:732179 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 4h syndrome | ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome PMID:16545482|PMID:17538929|PMID:18716558|PMID:19195941|PMID:21670405|PMID:21824913|PMID:21880868|PMID:21953457|PMID:22084276|PMID:24642831|PMID:25741868|PMID:26467025|PMID:28492532 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0060898 Parkinson's disease 20 ISO RGD:732179 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:18414213|PMID:21357833|PMID:21880868|PMID:25741868|PMID:26467025|PMID:28337550|PMID:28492532|PMID:28776642 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:732179 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:16401742|PMID:18487244|PMID:21301859|PMID:21880868|PMID:22000311|PMID:22114710|PMID:22357363|PMID:24033266|PMID:24508722|PMID:24642831|PMID:25203713|PMID:25741868|PMID:26077851|PMID:26095671|PMID:26467025|PMID:27538604|PMID:27987238|PMID:28074849|PMID:28337550|PMID:28480171|PMID:28492532|PMID:30609409|PMID:32504279|PMID:33671400 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080119 mitochondrial DNA depletion syndrome 1 ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MNGIE, TYMP-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25462018|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:27119776|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:29029963|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30369941|PMID:30373890|PMID:30423451|PMID:30487145|PMID:30818899|PMID:30936349|PMID:31085725|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32445240|PMID:32567010|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:7240710 20181219 OMIM 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:11301032|PMID:11431686|PMID:11555352|PMID:11571332|PMID:11897778|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14467368|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16857757|PMID:16919951|PMID:16929381|PMID:16940310|PMID:16943369|PMID:16957900|PMID:17067213|PMID:17088268|PMID:17280874|PMID:17310215|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17538929|PMID:17576681|PMID:17725985|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19275594|PMID:19307547|PMID:19344718|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19837034|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20400524|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:2067633|PMID:20691285|PMID:20701905|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21447491|PMID:21455106|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21704543|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22334187|PMID:22342071|PMID:22357363|PMID:22377773|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22552686|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22778364|PMID:22863191|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23665194|PMID:23719791|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23836942|PMID:23873972|PMID:23921535|PMID:2392416|PMID:24033266|PMID:24086434|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24194468|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24398692|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25065347|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25412673|PMID:25429852|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25497598|PMID:25525159|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25771874|PMID:25850945|PMID:25914719|PMID:25940035|PMID:26050231|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26554610|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27381400|PMID:27422324|PMID:27450679 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:27538604|PMID:27538665|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28430993|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28815208|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29302508|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29950568|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30818899|PMID:30838265|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30951992|PMID:31147703|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31613174|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:31996268|PMID:32019516|PMID:32234506|PMID:32347949|PMID:32348839|PMID:32502631|PMID:32600829|PMID:32703289|PMID:33258288|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34194468|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370|PMID:9500334|PMID:9536098 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:11301032|PMID:11431686|PMID:11555352|PMID:11571332|PMID:11897778|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14467368|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16919951|PMID:16929381|PMID:16940310|PMID:16943369|PMID:16957900|PMID:17067213|PMID:17088268|PMID:17280874|PMID:17310215|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17538929|PMID:17576681|PMID:17725985|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19275594|PMID:19307547|PMID:19344718|PMID:19364868|PMID:19478085|PMID:19500334|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19837034|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20220442|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20400524|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:2067633|PMID:20691285|PMID:20701905|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21447491|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21704543|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22215559|PMID:22237560|PMID:22277967|PMID:22334187|PMID:22342071|PMID:22357363|PMID:22377773|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22552686|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22778364|PMID:22863191|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23665194|PMID:23719791|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23830586|PMID:23836942|PMID:23873972|PMID:23921535|PMID:2392416|PMID:24033266|PMID:24086434|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24194468|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24398692|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25065347|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25412673|PMID:25429852|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25497598|PMID:25525159|PMID:25585994|PMID:25638290|PMID:25660390|PMID:25713120|PMID:25724872|PMID:25741868|PMID:25742477|PMID:25771874|PMID:25850945|PMID:25914719|PMID:25940035|PMID:26050231|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26554610|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:27111573|PMID:27119776|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27349602|PMID:27381400|PMID:27422324|PMID:27450679|PMID:27475922|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28430993|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28815208|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29278894|PMID:29302508|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29644085|PMID:29655203|PMID:29712893|PMID:29915382|PMID:29920680|PMID:29950568|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30385167|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30609409|PMID:30634555|PMID:30637288|PMID:30678510|PMID:30755392|PMID:30818899|PMID:30831263|PMID:30838265|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31085725|PMID:31147703|PMID:31164858|PMID:31425757|PMID:31475037|PMID:31521625|PMID:31571979|PMID:31589614|PMID:31613174|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31731261|PMID:31762033|PMID:31980526|PMID:31996268|PMID:32005694|PMID:32019516|PMID:32042919|PMID:32161153|PMID:32234506|PMID:32347949|PMID:32348839|PMID:32445240|PMID:32502631|PMID:32504279|PMID:32567010|PMID:32600829|PMID:32703289|PMID:32964447|PMID:33233646|PMID:33258288|PMID:33278787|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33579567|PMID:33600046|PMID:33671400|PMID:33726816|PMID:33791913|PMID:34008892|PMID:34194468|PMID:34690748|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370|PMID:9536098 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:11301032|PMID:11431686|PMID:11555352|PMID:11571332|PMID:11897778|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14467368|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16919951|PMID:16929381|PMID:16940310|PMID:16943369|PMID:16957900|PMID:17067213|PMID:17088268|PMID:17280874|PMID:17310215|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17538929|PMID:17576681|PMID:17725985|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19275594|PMID:19307547|PMID:19344718|PMID:19364868|PMID:19478085|PMID:19500334|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19837034|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20220442|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20400524|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:2067633|PMID:20691285|PMID:20701905|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21447491|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21704543|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22215559|PMID:22237560|PMID:22277967|PMID:22334187|PMID:22342071|PMID:22357363|PMID:22377773|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22552686|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22778364|PMID:22805437|PMID:22863191|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23665194|PMID:23719791|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23830586|PMID:23836942|PMID:23873972|PMID:23921535|PMID:2392416|PMID:24033266|PMID:24086434|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24194468|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24398692|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25065347|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25412673|PMID:25429852|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25497598|PMID:25525159|PMID:25585994|PMID:25638290|PMID:25660390|PMID:25713120|PMID:25724872|PMID:25741868|PMID:25742477|PMID:25771874|PMID:25850945|PMID:25914719|PMID:25940035|PMID:26050231|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26554610|PMID:26557169|PMID:26607151|PMID:26640698|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:26968897|PMID:27016405|PMID:27111573|PMID:27119776|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27349602|PMID:27381400|PMID:27422324|PMID:27450679|PMID:27475922|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28430993|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28815208|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29278894|PMID:29302508|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29644085|PMID:29655203|PMID:29712893|PMID:29915382|PMID:29920680|PMID:29950568|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30385167|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30609409|PMID:30634555|PMID:30637288|PMID:30678510|PMID:30755392|PMID:30818899|PMID:30831263|PMID:30838265|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31085725|PMID:31147703|PMID:31164858|PMID:31425757|PMID:31475037|PMID:31521625|PMID:31571979|PMID:31589614|PMID:31613174|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31731261|PMID:31762033|PMID:31980526|PMID:31996268|PMID:32005694|PMID:32019516|PMID:32042919|PMID:32161153|PMID:32234506|PMID:32347949|PMID:32348839|PMID:32445240|PMID:32502631|PMID:32504279|PMID:32567010|PMID:32600829|PMID:32703289|PMID:32964447|PMID:33233646|PMID:33258288|PMID:33278787|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33579567|PMID:33600046|PMID:33671400|PMID:33726816|PMID:33791913|PMID:34008892|PMID:34194468|PMID:34690748|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370|PMID:9536098 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome susceptibility ISO RGD:620057 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P1073L (3218C>T) (human) PMID:20142534|REF_RGD_ID:15039298 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome susceptibility ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P1073L (3218C>T) (human) PMID:20142534|REF_RGD_ID:15039298 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome susceptibility ISO RGD:732180 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P1073L (3218C>T) (human) PMID:20142534|REF_RGD_ID:15039298 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080123 mitochondrial DNA depletion syndrome 4B ISO RGD:732179 D RGD:7240710 20180130 OMIM 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080123 mitochondrial DNA depletion syndrome 4B ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4B, MNGIE type | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4b PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16940310|PMID:16957900|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22277967|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25914719|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28958595|PMID:29029963|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30634555|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30951992|PMID:31085725|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:32005694|PMID:32042919|PMID:32234506|PMID:32348839|PMID:32445240|PMID:32502631|PMID:32567010|PMID:33233646|PMID:33396418 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080123 mitochondrial DNA depletion syndrome 4B ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4B, MNGIE type | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4b PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34690748|PMID:34782754|PMID:632821|PMID:7847370 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080126 mitochondrial DNA depletion syndrome 7 ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: mitochondrial hepatopathy PMID:25741868 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16621917|PMID:16638794|PMID:16639411|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21357833|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23811324|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25462018|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:27119776|PMID:27538604|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:29029963|PMID:29341116|PMID:29474836|PMID:29482223|PMID:29588995|PMID:30255931|PMID:30290626|PMID:30373890|PMID:31571979|PMID:31658717|PMID:31669236|PMID:32234506|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25462018|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:27119776|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:29029963|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30369941|PMID:30373890|PMID:30423451|PMID:30487145|PMID:30818899|PMID:30936349|PMID:31085725|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32445240|PMID:32567010|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0080855 Parkinsonism ISO RGD:732179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923349 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U PMID:14557557|PMID:14635118|PMID:16401742|PMID:16940310|PMID:18546365|PMID:19578034|PMID:21880868|PMID:23921535|PMID:24508722|PMID:25118206|PMID:25462018|PMID:25741868|PMID:26095671|PMID:26357557|PMID:26467025|PMID:27119776|PMID:27987238|PMID:28128857|PMID:28492532|PMID:29474836|PMID:30404819|PMID:30637288 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0111091 Fanconi anemia complementation group I ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group I PMID:18414213|PMID:22778927|PMID:23524600|PMID:25741868|PMID:26467025|PMID:27987238|PMID:28492532|PMID:28678401 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:732179 D RGD:7240710 20180130 OMIM 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:732179 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16919951|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29029963|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32234506|PMID:33469851|PMID:33473333|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:732179 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16919951|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19344718|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29029963|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32234506|PMID:32567010|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:732179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16919951|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19344718|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29029963|PMID:29272804|PMID:29302508|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31085725|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32445240|PMID:32567010|PMID:33233646|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33600046|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:732179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 ISO RGD:732179 D RGD:7240710 20180130 OMIM 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 ISO RGD:732179 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 PMID:11431686|PMID:11555352|PMID:11571332|PMID:11897778|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14467368|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17310215|PMID:17418573|PMID:17420318|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17725985|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20220442|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:2067633|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24398692|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25914719|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26554610|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28430993|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31085725|PMID:31147703|PMID:31164858|PMID:31475037|PMID:31521625|PMID:31571979 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 ISO RGD:732179 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32161153|PMID:32234506|PMID:32445240|PMID:32567010|PMID:33233646|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33600046|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 ISO RGD:732179 D RGD:7240710 20191127 OMIM 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16919951|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20701905|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20883824|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22189570|PMID:22334187|PMID:22342071|PMID:22494076|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25914719|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27381400|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:29029963|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31085725|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31762033|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32445240|PMID:32567010|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:1059 intellectual disability ISO RGD:732179 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:14745080|PMID:15181170|PMID:15351195|PMID:16401742|PMID:16545482|PMID:17426723|PMID:17538929|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18487244|PMID:18546365|PMID:18716558|PMID:19103152|PMID:19195941|PMID:19251978|PMID:19478085|PMID:19578034|PMID:19752458|PMID:19862739|PMID:20185557|PMID:20818383|PMID:21259344|PMID:21654874|PMID:21670405|PMID:21824913|PMID:21880868|PMID:21953457|PMID:22000311|PMID:22494076|PMID:22647225|PMID:23084792|PMID:23299917|PMID:23426270|PMID:23430834|PMID:23811324|PMID:24122062|PMID:24259288|PMID:24331360|PMID:24508722|PMID:24642831|PMID:25193669|PMID:25741868|PMID:26467025|PMID:27538665|PMID:28130605|PMID:28492532|PMID:29029963|PMID:29474836|PMID:30167885|PMID:30255931|PMID:30373890|PMID:30818899|PMID:31571979|PMID:31658717|PMID:31669236|PMID:32234506|PMID:33486010 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:1059 intellectual disability ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:14745080|PMID:15181170|PMID:15351195|PMID:16401742|PMID:16545482|PMID:17426723|PMID:17538929|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18487244|PMID:18546365|PMID:18716558|PMID:19103152|PMID:19195941|PMID:19251978|PMID:19478085|PMID:19578034|PMID:19752458|PMID:19862739|PMID:20185557|PMID:20818383|PMID:21259344|PMID:21484424|PMID:21654874|PMID:21670405|PMID:21824913|PMID:21880868|PMID:21953457|PMID:22000311|PMID:22084276|PMID:22494076|PMID:22647225|PMID:23084792|PMID:23299917|PMID:23426270|PMID:23430834|PMID:23811324|PMID:24122062|PMID:24259288|PMID:24331360|PMID:24508722|PMID:24642831|PMID:25193669|PMID:25741868|PMID:26467025|PMID:27538665|PMID:28130605|PMID:28480171|PMID:28492532|PMID:29029963|PMID:29474836|PMID:30167885|PMID:30255931|PMID:30373890|PMID:30818899|PMID:31085725|PMID:31571979|PMID:31658717|PMID:31669236|PMID:32234506|PMID:32445240|PMID:32504279|PMID:32964447|PMID:33233646|PMID:33486010 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:10787 premature menopause ISO RGD:732179 D RGD:9068941 20200609 RGD associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations: : PMID:15351195|REF_RGD_ID:8694175 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:10907 microcephaly ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:11832 visual epilepsy ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29474836|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30255931|PMID:30373890|PMID:30404819|PMID:30637288|PMID:30843307|PMID:30951992|PMID:31571979|PMID:31655921|PMID:31658717|PMID:31669236|PMID:32019516|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33469851|PMID:34008892|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21880868|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:33396418|PMID:34008892|PMID:7847370 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:12336 male infertility ISO RGD:732179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923349 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:732179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923349 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human) PMID:12565911|REF_RGD_ID:8694170 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:12975295|PMID:16401742|REF_RGD_ID:8694163|REF_RGD_ID:8694183 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human) PMID:17420318|REF_RGD_ID:8694204 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human) PMID:11431686|REF_RGD_ID:737726 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:12849 autistic disorder ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:18156159|PMID:21880868|PMID:25741868|PMID:26467025|PMID:28492532 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:12849 autistic disorder ISO RGD:732179 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:18156159|PMID:21880868|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33600046 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:13636 Fanconi anemia ISO RGD:732179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452773|PMID:17460694|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:22720145|PMID:23783014|PMID:24033266|PMID:24989076|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:26590883|PMID:28492532|PMID:28678401 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:1389 polyneuropathy ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyneuropathy 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:14264 benign neonatal seizures ISO RGD:732179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: neonatal seizures PMID:14635118|PMID:16919951|PMID:20185557|PMID:21357833|PMID:21550804|PMID:21880868|PMID:25741868|PMID:28471437|PMID:28492532 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:14330 Parkinson's disease ISO RGD:732179 D RGD:9068941 20200609 RGD associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutation:cds:p.K512M(human) PMID:23865558|REF_RGD_ID:8694203 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:14330 Parkinson's disease ISO RGD:732179 D RGD:9068941 20200609 RGD associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations: : PMID:15351195|REF_RGD_ID:8694175 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:14330 Parkinson's disease onset ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:missense mutations:exons:p.R853W,p.G737R(human) PMID:16634032|REF_RGD_ID:8694201 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:1824 status epilepticus ISO RGD:620057 D RGD:9068941 20200609 RGD PMID:18295498|REF_RGD_ID:2317139 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizure Disorders | ClinVar Annotator: match by term: Seizures PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32234506|PMID:33469851|PMID:33473333|PMID:33726816|PMID:34008892|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder | ClinVar Annotator: match by term: Seizures PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30951992|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32019516|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33469851|PMID:33473333|PMID:33726816|PMID:34008892|PMID:34782754|PMID:35307828|PMID:632821 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder | ClinVar Annotator: match by term: Seizures PMID:7847370 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30951992|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32019516|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34782754 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:35307828|PMID:632821|PMID:7847370 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30951992|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:32019516|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:34008892|PMID:34690748|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:15181170|PMID:15351195|PMID:16401742|PMID:16545482|PMID:17538929|PMID:18156159|PMID:18716558|PMID:19195941|PMID:19578034|PMID:19752458|PMID:21670405|PMID:21824913|PMID:21880868|PMID:21953457|PMID:22084276|PMID:22647225|PMID:23426270|PMID:23811324|PMID:24122062|PMID:24259288|PMID:24331360|PMID:24508722|PMID:24642831|PMID:25193669|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29029963|PMID:30255931|PMID:30373890|PMID:31571979|PMID:31658717|PMID:31669236|PMID:32234506|PMID:33600046 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:2377 multiple sclerosis ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:missense mutations:cds: PMID:20837861|REF_RGD_ID:8694283 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:2476 hereditary spastic paraplegia ISO RGD:732179 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16715201|PMID:16857757|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20176107|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21301859|PMID:21357833|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27422324|PMID:27538604|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29588995|PMID:29655203|PMID:29992832|PMID:30167885|PMID:30255931|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30843307|PMID:30936349|PMID:30951992|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33473333|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:2476 hereditary spastic paraplegia ISO RGD:732179 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16715201|PMID:16857757|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20176107|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21301859|PMID:21357833|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27422324|PMID:27538604|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29588995|PMID:29655203|PMID:29992832|PMID:30167885|PMID:30255931|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30843307|PMID:30936349|PMID:30951992|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34690748|PMID:34782754|PMID:632821|PMID:7847370 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:2476 hereditary spastic paraplegia ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20176107|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21301859|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27422324|PMID:27538604|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29588995|PMID:29655203|PMID:29992832|PMID:30167885|PMID:30255931|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30843307|PMID:30936349|PMID:30951992|PMID:31085725|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:32234506|PMID:32348839|PMID:32445240|PMID:32502631|PMID:32964447|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33671400|PMID:33726816|PMID:33791913|PMID:34008892|PMID:34690748|PMID:34782754|PMID:632821|PMID:7847370 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:2717 Bloom syndrome ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:3312 bipolar disorder ISO RGD:732180 D RGD:9068941 20220825 MouseDO 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:3324 mood disorder ISO RGD:732180 D RGD:9068941 20200609 RGD PMID:16619054|REF_RGD_ID:8694301 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:3324 mood disorder ISO RGD:732180 D RGD:9068941 20220825 MouseDO 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:3687 MELAS syndrome ISO RGD:732179 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke PMID:25741868|PMID:28492532 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:5426 primary ovarian insufficiency ISO RGD:732179 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:14635118|PMID:25741868|PMID:27987238 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:630 genetic disease ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15800909|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16929381|PMID:16940310|PMID:16943369|PMID:16957900|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17576681|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22215559|PMID:22237560|PMID:22277967|PMID:22342071|PMID:22357363|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22778364|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25638290|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25914719|PMID:25940035|PMID:26050231|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30306720 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:630 genetic disease ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30678510|PMID:30755392|PMID:30831263|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31085725|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31613174|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:32019516|PMID:32161153|PMID:32234506|PMID:32347949|PMID:32348839|PMID:32445240|PMID:32502631|PMID:32504279|PMID:32567010|PMID:32964447|PMID:33233646|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33600046|PMID:33671400|PMID:33726816|PMID:34008892|PMID:34194468|PMID:34690748|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370|PMID:9536098 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:620057 D RGD:9068941 20200609 RGD DNA:SNPs:introns: (rs1061316, rs758130) (human) PMID:28457473|REF_RGD_ID:15039387 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:SNPs:introns: (rs1061316, rs758130) (human) PMID:28457473|REF_RGD_ID:15039387 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732180 D RGD:9068941 20200609 RGD DNA:SNPs:introns: (rs1061316, rs758130) (human) PMID:28457473|REF_RGD_ID:15039387 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:700 mitochondrial metabolism disease ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder | ClinVar Annotator: match by term: mitochondrial disorder PMID:11431686|PMID:11555352|PMID:11571332|PMID:11897778|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14467368|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16940310|PMID:16957900|PMID:17088268|PMID:17310215|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17576681|PMID:17725985|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19500334|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:2067633|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21305355|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22470557|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23324391|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23836942|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24265579|PMID:24272679|PMID:24398692|PMID:24508722|PMID:24725338|PMID:25025039|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26554610|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27111573|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28430993|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30306720|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30678510|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31147703|PMID:31164858|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31645654|PMID:31980526|PMID:32161153|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370|PMID:9536098 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:8725 vascular dementia ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:25850945|PMID:26467025|PMID:28492532|PMID:35307828 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:890 mitochondrial encephalomyopathy ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:mutations:cds:p.N846S, p.P587L(human) PMID:12825077|REF_RGD_ID:8694177 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:9000307 Presbycusis ISO RGD:732180 D RGD:9068941 20200609 RGD PMID:21664445|REF_RGD_ID:8694161 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:9001263 Mitochondrial DNA Depletion Syndrome, MNGIE Type ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MNGIE syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25462018|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:27119776|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:29029963|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30369941|PMID:30373890|PMID:30423451|PMID:30487145|PMID:30818899|PMID:30936349|PMID:31085725|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32445240|PMID:32567010|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:732179 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spinocerebellar atrophy PMID:17436221|PMID:18546365|PMID:19364868|PMID:19762913|PMID:19887119|PMID:20176107|PMID:21880868|PMID:24091540|PMID:25462018|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28958595|PMID:29992832|PMID:30951992|PMID:31655921|PMID:31665838|PMID:32348839|PMID:32502631|PMID:34690748 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:9002375 Childhood Myocerebrohepatopathy Spectrum ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Childhood myocerebrohepatopathy spectrum PMID:12707443|PMID:16621917|PMID:18487244|PMID:18546365|PMID:19752458|PMID:20185557|PMID:21305355|PMID:21880868|PMID:22189570|PMID:23208208|PMID:24265579|PMID:25741868|PMID:27111573|PMID:28471437|PMID:28492532|PMID:30021052|PMID:30167885 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:9002644 Premature Aging ISO RGD:732180 D RGD:9068941 20200609 RGD PMID:15164064|REF_RGD_ID:8694320 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:9003108 CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:29029963|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30936349|PMID:31085725|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32445240|PMID:32567010|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:9004493 Camptocormia ISO RGD:732179 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Bent Spine Syndrome PMID:16621917|PMID:17452231|PMID:18546365|PMID:19189930|PMID:19578034|PMID:19752458|PMID:19815814|PMID:20227526|PMID:20301791|PMID:20803511|PMID:21856450|PMID:21880868|PMID:22647225|PMID:22727047|PMID:23808377|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27271921|PMID:28130605|PMID:28492532 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:9004866 Ataxia ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.A467T,p.Q497H,p.W748S(human) PMID:15824347|REF_RGD_ID:8694191 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:9005213 Dysmyelinating Leukodystrophy with Oligodontia ISO RGD:732179 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dentoleukoencephalopathy PMID:16545482|PMID:17538929|PMID:18716558|PMID:19195941|PMID:21670405|PMID:21824913|PMID:21880868|PMID:21953457|PMID:22084276|PMID:24642831|PMID:25741868|PMID:26467025|PMID:28492532 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732180 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:retina,mitochondrion: PMID:22229649|REF_RGD_ID:8694187 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:9005815 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic PMID:12210792|PMID:12872260|PMID:15349879|PMID:15689359|PMID:15929042|PMID:16177225|PMID:17426723|PMID:17980715|PMID:18500570|PMID:18828154|PMID:19307547|PMID:19478085|PMID:20301791|PMID:20513108|PMID:20818383|PMID:21228000|PMID:21670405|PMID:21880868|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:23448099|PMID:24272679|PMID:25585994|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34782754 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:9006476 Spinocerebellar Ataxia with Epilepsy ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia with epilepsy PMID:11431686|PMID:11571332|PMID:12565911|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:1582434|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19251978|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20301791|PMID:20438629|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:23808377|PMID:24033266|PMID:24122062|PMID:24272679|PMID:24725338|PMID:25025039|PMID:25065347|PMID:25286830|PMID:25497598|PMID:25585994|PMID:25713120|PMID:25741868|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26467025|PMID:26607151|PMID:26735972|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27290639|PMID:27422324|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28130605|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30306720|PMID:30369941|PMID:30423451|PMID:30843307|PMID:30860128|PMID:31164858|PMID:31475037|PMID:31589614|PMID:31980526|PMID:33469851|PMID:33473333|PMID:33726816|PMID:34782754|PMID:632821 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:9006534 Nervous System Malformations ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:19752458|PMID:20185557|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21305355|PMID:21880868|PMID:22189570|PMID:22616202|PMID:23208208|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27111573|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30021052|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:33396418|PMID:34008892|PMID:7847370 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:9007096 Stroke ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stroke PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21880868|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:33396418|PMID:34008892|PMID:7847370 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18208989|PMID:20138553 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury no_association ISO RGD:620057 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.Q1236H, p.E1143G (33708G>T, 3428A>G) (human) PMID:30255931|REF_RGD_ID:15039297 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury no_association ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.Q1236H, p.E1143G (33708G>T, 3428A>G) (human) PMID:30255931|REF_RGD_ID:15039297 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury no_association ISO RGD:732180 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.Q1236H, p.E1143G (33708G>T, 3428A>G) (human) PMID:30255931|REF_RGD_ID:15039297 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:620057 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W748S, p.E1143G (2243G>C, 3428A>G) (human) PMID:25065347|REF_RGD_ID:15039302 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W748S, p.E1143G (2243G>C, 3428A>G) (human) PMID:25065347|REF_RGD_ID:15039302 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:732180 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W748S, p.E1143G (2243G>C, 3428A>G) (human) PMID:25065347|REF_RGD_ID:15039302 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:9008086 Developmental Disabilities ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21880868|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:32019516|PMID:33396418|PMID:34008892|PMID:7847370 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:9008631 progressive myoclonus epilepsy 5 ISO RGD:732179 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19344718|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29029963|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31085725|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32445240|PMID:32567010|PMID:33233646|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33600046|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:9009021 Plagiocephaly ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plagiocephaly PMID:21550804|PMID:21880868|PMID:25741868|PMID:28492532|PMID:30755392 12233232 POLG DNA polymerase gamma, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12233232 Polg DNA polymerase gamma, catalytic subunit gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620057 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:22743328|REF_RGD_ID:8694093 12233261 KIAA1614 KIAA1614 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1605647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12233261 KIAA1614 KIAA1614 gene DOID:1540 parathyroid carcinoma ISO RGD:1605647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12233261 KIAA1614 KIAA1614 gene DOID:630 genetic disease ISO RGD:1605647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233261 KIAA1614 KIAA1614 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12233261 KIAA1614 KIAA1614 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12233358 ARPC4 actin related protein 2/3 complex subunit 4 gene DOID:14250 Down syndrome ISO RGD:1320803 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (human) PMID:12054546|REF_RGD_ID:11570562 12233358 ARPC4 actin related protein 2/3 complex subunit 4 gene DOID:2843 long QT syndrome ISO RGD:1320803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12233358 ARPC4 actin related protein 2/3 complex subunit 4 gene DOID:630 genetic disease ISO RGD:1320803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:35047857 12233358 ARPC4 actin related protein 2/3 complex subunit 4 gene DOID:8893 psoriasis ISO RGD:1320804 D RGD:9068941 20220825 MouseDO OMIM:177900 | OMIM:601454 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106 12233358 ARPC4 actin related protein 2/3 complex subunit 4 gene DOID:9000955 Acute Otitis Media ISO RGD:8803523 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mucosa of middle ear PMID:26711468|REF_RGD_ID:11553828 12233358 ARPC4 actin related protein 2/3 complex subunit 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12233358 ARPC4 actin related protein 2/3 complex subunit 4 gene DOID:9005464 Developmental Delay, Language Impairment, and Ocular Abnormalities ISO RGD:1320803 D RGD:7240710 20221214 OMIM 12233358 ARPC4 actin related protein 2/3 complex subunit 4 gene DOID:9005464 Developmental Delay, Language Impairment, and Ocular Abnormalities ISO RGD:1320803 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental delay, language impairment, and ocular abnormalities PMID:35047857 12233358 ARPC4 actin related protein 2/3 complex subunit 4 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1320803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12233369 MS4A14 membrane spanning 4-domains A14 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12233369 MS4A14 membrane spanning 4-domains A14 gene DOID:1059 intellectual disability ISO RGD:1606761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12233369 MS4A14 membrane spanning 4-domains A14 gene DOID:4990 essential tremor ISO RGD:1606761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 12233369 MS4A14 membrane spanning 4-domains A14 gene DOID:630 genetic disease ISO RGD:1606761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233379 A4GALT alpha 1,4-galactosyltransferase gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:734223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 12233379 A4GALT alpha 1,4-galactosyltransferase gene DOID:1059 intellectual disability ISO RGD:734223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12233379 A4GALT alpha 1,4-galactosyltransferase gene DOID:4257 Caffey disease ISO RGD:734223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile cortical hyperostosis PMID:20971946 12233379 A4GALT alpha 1,4-galactosyltransferase gene DOID:630 genetic disease ISO RGD:734223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12233379 A4GALT alpha 1,4-galactosyltransferase gene DOID:8584 Burkitt lymphoma ISO RGD:734223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11482875 12233379 A4GALT alpha 1,4-galactosyltransferase gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:734223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 12233379 A4GALT alpha 1,4-galactosyltransferase gene DOID:9005170 polyagglutination ISO RGD:734223 D RGD:7240710 20230505 OMIM 12233379 A4GALT alpha 1,4-galactosyltransferase gene DOID:9005651 NOR POLYAGGLUTINATION SYNDROME ISO RGD:734223 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: NOR polyagglutination syndrome PMID:22965229|PMID:7072192|PMID:9920164 12233397 CDC25A cell division cycle 25A gene DOID:0050770 polycystic liver disease ISO RGD:731492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 12233397 CDC25A cell division cycle 25A gene DOID:0050770 polycystic liver disease treatment ISO RGD:731493 D RGD:9068941 20200609 RGD PMID:22155366|REF_RGD_ID:14700990 12233397 CDC25A cell division cycle 25A gene DOID:0080600 COVID-19 ISO RGD:731492 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12233397 CDC25A cell division cycle 25A gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:621498 D RGD:9068941 20200609 RGD protein:increased expression:cholangiocyte: PMID:22155366|REF_RGD_ID:14700990 12233397 CDC25A cell division cycle 25A gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:731492 D RGD:9068941 20200609 RGD protein:increased expression:cholangiocyte: PMID:22155366|REF_RGD_ID:14700990 12233397 CDC25A cell division cycle 25A gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:731493 D RGD:9068941 20200609 RGD protein:increased expression:cholangiocyte: PMID:22155366|REF_RGD_ID:14700990 12233397 CDC25A cell division cycle 25A gene DOID:0110861 autosomal recessive polycystic kidney disease treatment ISO RGD:621498 D RGD:9068941 20200609 RGD PMID:22155366|REF_RGD_ID:14700990 12233397 CDC25A cell division cycle 25A gene DOID:10283 prostate cancer ISO RGD:731492 D RGD:9068941 20200609 RGD PMID:18974148|REF_RGD_ID:2743964 12233397 CDC25A cell division cycle 25A gene DOID:11054 urinary bladder cancer ISO RGD:731492 D RGD:9068941 20200609 RGD PMID:17145867|REF_RGD_ID:2715645 12233397 CDC25A cell division cycle 25A gene DOID:2101 vulva squamous cell carcinoma ISO RGD:731492 D RGD:9068941 20200609 RGD protein:increased expression:vulva PMID:20500813|REF_RGD_ID:2729590 12233397 CDC25A cell division cycle 25A gene DOID:3459 breast carcinoma disease_progression ISO RGD:731492 D RGD:9068941 20200609 RGD PMID:19555767|REF_RGD_ID:2734052 12233397 CDC25A cell division cycle 25A gene DOID:4362 cervical cancer ISO RGD:731492 D RGD:9068941 20200609 RGD PMID:18299147|REF_RGD_ID:2296067 12233397 CDC25A cell division cycle 25A gene DOID:630 genetic disease ISO RGD:731492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233397 CDC25A cell division cycle 25A gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:731492 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Isolated polycystic liver disease 12233397 CDC25A cell division cycle 25A gene DOID:9002221 Hyperplasia ISO RGD:731492 D RGD:9068941 20200609 RGD PMID:17283130|REF_RGD_ID:2764000 12233397 CDC25A cell division cycle 25A gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:731492 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12233397 CDC25A cell division cycle 25A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731492 D RGD:9068941 20200609 RGD PMID:17283130|REF_RGD_ID:2764000 12233397 CDC25A cell division cycle 25A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731493 D RGD:9068941 20200609 RGD PMID:16951165|PMID:17638870|REF_RGD_ID:2754551|REF_RGD_ID:2771824 12233422 MBD3 methyl-CpG binding domain protein 3 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1316562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 12233422 MBD3 methyl-CpG binding domain protein 3 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1316562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12233422 MBD3 methyl-CpG binding domain protein 3 gene DOID:11832 visual epilepsy ISO RGD:1307389 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:12123686|REF_RGD_ID:9587847 12233422 MBD3 methyl-CpG binding domain protein 3 gene DOID:12849 autistic disorder ISO RGD:1316562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19921286 12233422 MBD3 methyl-CpG binding domain protein 3 gene DOID:224 transient cerebral ischemia ISO RGD:1307389 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:12421618|REF_RGD_ID:9587846 12233422 MBD3 methyl-CpG binding domain protein 3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1316562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12233422 MBD3 methyl-CpG binding domain protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12233449 FHIP2A FHF complex subunit HOOK interacting protein 2A gene DOID:0050888 syndromic intellectual disability ISO RGD:1314542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 12233449 FHIP2A FHF complex subunit HOOK interacting protein 2A gene DOID:1909 melanoma ISO RGD:1314542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12233449 FHIP2A FHF complex subunit HOOK interacting protein 2A gene DOID:630 genetic disease ISO RGD:1314542 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233470 TIFA TRAF interacting protein with forkhead associated domain gene DOID:12271 aniridia ISO RGD:1606192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 12233470 TIFA TRAF interacting protein with forkhead associated domain gene DOID:630 genetic disease ISO RGD:1606192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233480 SCRN3 secernin 3 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1312871 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12233480 SCRN3 secernin 3 gene DOID:630 genetic disease ISO RGD:1312871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233492 HOXD3 homeobox D3 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1344554 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12233492 HOXD3 homeobox D3 gene DOID:630 genetic disease ISO RGD:1344554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233492 HOXD3 homeobox D3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19283074 12233507 PPP1R1C protein phosphatase 1 regulatory inhibitor subunit 1C gene DOID:630 genetic disease ISO RGD:1351328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233533 CRB3 crumbs cell polarity complex component 3 gene DOID:0080490 mucolipidosis type IV ISO RGD:1348954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12233533 CRB3 crumbs cell polarity complex component 3 gene DOID:630 genetic disease ISO RGD:1348954 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233617 MSTN myostatin gene DOID:0111072 myostatin-related muscle hypertrophy ISO RGD:736334 D RGD:7240710 20180822 OMIM 12233617 MSTN myostatin gene DOID:0111072 myostatin-related muscle hypertrophy ISO RGD:736334 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Myostatin-related muscle hypertrophy PMID:10610713|PMID:11555072|PMID:15215484|PMID:19232494|PMID:20301671|PMID:21283721|PMID:24479661|PMID:28492532 12233617 MSTN myostatin gene DOID:0111944 immunodeficiency 31B ISO RGD:736334 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 12233617 MSTN myostatin gene DOID:1459 hypothyroidism ISO RGD:3115 D RGD:9068941 20200609 RGD PMID:18997488|REF_RGD_ID:2303545 12233617 MSTN myostatin gene DOID:332 amyotrophic lateral sclerosis ISO RGD:3115 D RGD:9068941 20200609 RGD PMID:16837207|REF_RGD_ID:2303556 12233617 MSTN myostatin gene DOID:341 peripheral vascular disease ISO RGD:3115 D RGD:9068941 20200609 RGD PMID:19125275|REF_RGD_ID:2303544 12233617 MSTN myostatin gene DOID:4676 uremia ISO RGD:3115 D RGD:9068941 20211126 RGD associated with Kidney Failure, Chronic PMID:16871256|REF_RGD_ID:2303558 12233617 MSTN myostatin gene DOID:6000 congestive heart failure ISO RGD:3115 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium PMID:16968467|REF_RGD_ID:2303554 12233617 MSTN myostatin gene DOID:6000 congestive heart failure ISO RGD:736334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16968467 12233617 MSTN myostatin gene DOID:630 genetic disease ISO RGD:736334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233617 MSTN myostatin gene DOID:767 muscular atrophy ISO RGD:3115 D RGD:9068941 20200609 RGD associated with Addison's Disease PMID:15738643|REF_RGD_ID:2303596 12233617 MSTN myostatin gene DOID:767 muscular atrophy ISO RGD:3115 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:skeletal muscle PMID:15758361|REF_RGD_ID:2303594 12233617 MSTN myostatin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12233617 MSTN myostatin gene DOID:9007346 Cachexia ISO RGD:3115 D RGD:9068941 20200609 RGD associated with Carcinoma, Hepatocellular;mRNA:increased expression:skeletal muscle PMID:18578694|REF_RGD_ID:2303552 12233617 MSTN myostatin gene DOID:9007730 Burns ISO RGD:3115 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:11481237|REF_RGD_ID:2303598 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:68977 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:0050851 glomerulosclerosis ISO RGD:2070 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:12495295|REF_RGD_ID:6903859 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:0060224 atrial fibrillation ISO RGD:68977 D RGD:9068941 20200609 RGD associated with Mitral Valve Insufficiency PMID:20080265|REF_RGD_ID:5147453 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:0080600 COVID-19 ISO RGD:68977 D RGD:9068941 20200702 RGD associated with hypertension PMID:32228222|REF_RGD_ID:30296671 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:0111682 diffuse cystic renal dysplasia ISO RGD:68977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to PMID:25741868|PMID:35005812 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:10652 Alzheimer's disease ISO RGD:68977 D RGD:9068941 20200609 RGD protein:decreased expression:substantia nigra: PMID:8666063|REF_RGD_ID:10047397 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:68977 D RGD:9068941 20200609 RGD PMID:21929736|REF_RGD_ID:10047395 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:1073 renal hypertension ISO RGD:2070 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney: PMID:7591011|REF_RGD_ID:10047107 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:10763 hypertension ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:21346625|PMID:9622148|REF_RGD_ID:5129176|REF_RGD_ID:8549458 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:10763 hypertension ISO RGD:2070 D RGD:9068941 20200609 RGD associated with Sleep Apnea Syndromes PMID:21040717|REF_RGD_ID:5129169 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:10763 hypertension ISO RGD:2070 D RGD:9068941 20200609 RGD mRNA:increased expression:aortic endothelial cell PMID:8181542|REF_RGD_ID:5147456 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:10763 hypertension ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19047579|PMID:23603059|PMID:27292124|PMID:8952600 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:10763 hypertension no_association ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1166A>C PMID:9456365|REF_RGD_ID:1601152 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:10763 hypertension susceptibility ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:g.1166A>C PMID:16519598|REF_RGD_ID:1601148 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:10825 essential hypertension ISO RGD:68977 D RGD:7240710 20180130 OMIM 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:10825 essential hypertension ISO RGD:68977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Essential hypertension | ClinVar Annotator: match by term: Essential hypertension, genetic | ClinVar Annotator: match by term: Hypertension, essential, susceptibility to PMID:15042429|PMID:25741868|PMID:28492532|PMID:28973083|PMID:8021009|PMID:9084931 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:10825 essential hypertension treatment ISO RGD:68977 D RGD:9068941 20200609 RGD PMID:18604484|REF_RGD_ID:10047396 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:10952 nephritis ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:12077487|REF_RGD_ID:6903864 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:11335 sarcoidosis ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism: :1166A>C (human) PMID:20560294|REF_RGD_ID:5129165 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:11335 sarcoidosis no_association ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism: :1166A>C (human) PMID:21319597|REF_RGD_ID:5129164 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:12858 Huntington's disease ISO RGD:68977 D RGD:9068941 20200609 RGD protein:decreased expression:putamen: PMID:8666063|REF_RGD_ID:10047397 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:20886512|REF_RGD_ID:5129198 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:12930 dilated cardiomyopathy treatment ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:22120037|REF_RGD_ID:8549486 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:2070 D RGD:9068941 20200609 RGD protein:increased expression:kidney cortex PMID:21357516|REF_RGD_ID:5129175 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:13832 patent ductus arteriosus ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12904590|PMID:19336370 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:14330 Parkinson's disease ISO RGD:68977 D RGD:9068941 20200609 RGD protein:decreased expression:caudate nucleus,putamen,substantia nigra: PMID:8666063|REF_RGD_ID:10047397 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:1591 renovascular hypertension ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:16796846|PMID:21326341|REF_RGD_ID:5129177|REF_RGD_ID:5147455 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:1591 renovascular hypertension ISO RGD:2070 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney: PMID:9644212|REF_RGD_ID:10047119 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:1612 breast cancer ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype: :1166A>C (human) PMID:23828384|REF_RGD_ID:8548866 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:2018 hyperinsulinism ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:16565309|REF_RGD_ID:1642975 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:2841 asthma ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:19080339|REF_RGD_ID:5147457 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:68977 D RGD:9068941 20200609 RGD protein:increased expression:kidney tubule PMID:15930094|REF_RGD_ID:6903851 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:3393 coronary artery disease ISO RGD:68977 D RGD:9068941 20200609 RGD PMID:12975417|REF_RGD_ID:1566498 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:3407 carotid artery disease susceptibility ISO RGD:68977 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphism:3' utr:g.1166A>C PMID:16519598|REF_RGD_ID:1601148 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17481528 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:3891 placental insufficiency ISO RGD:2070 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:placenta PMID:20621762|REF_RGD_ID:5147460 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:4450 renal cell carcinoma severity ISO RGD:68977 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:21102591|REF_RGD_ID:6903280 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:2070 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:21282555|REF_RGD_ID:5129185 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:557 kidney disease ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15213268 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:576 proteinuria ISO RGD:2070 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:20042458|REF_RGD_ID:6903284 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:576 proteinuria ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17021606 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:5844 myocardial infarction ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:9652322|REF_RGD_ID:10047101 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:5844 myocardial infarction no_association ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1166A>C (human) PMID:9857918|REF_RGD_ID:1566499 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1166A>C PMID:16061119|REF_RGD_ID:1601150 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:6000 congestive heart failure ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17208988|PMID:18214293|PMID:18586661 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:6000 congestive heart failure treatment ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:21963897|REF_RGD_ID:8549482 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:630 genetic disease ISO RGD:68977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:6432 pulmonary hypertension onset ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1166A>C (human) PMID:19332265|REF_RGD_ID:5147450 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:6713 cerebrovascular disease susceptibility ISO RGD:68977 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphism:3' utr:1166A>C PMID:16109907|REF_RGD_ID:1601149 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22539767 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:784 chronic kidney disease ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:12089373|REF_RGD_ID:6903863 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:784 chronic kidney disease disease_progression ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1166A>C (human) PMID:12832734|REF_RGD_ID:8548869 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:8805 intermediate coronary syndrome ISO RGD:68977 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium PMID:11451295|REF_RGD_ID:8548894 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:8947 diabetic retinopathy ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16601577 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:68977 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic;DNA:polymorphism: :1166A>C (human PMID:16105049|REF_RGD_ID:8548864 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:9000528 Coronary Disease no_association ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1166A>C (human) PMID:9857918|REF_RGD_ID:1566499 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1166A>C PMID:9456365|REF_RGD_ID:1601152 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:9000784 Fibrosis ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:21367774|REF_RGD_ID:5129174 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:14982483|REF_RGD_ID:6903857 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18059164 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2070 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:12172324|REF_RGD_ID:6903861 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:68977 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism: :1166A>C (human) PMID:12476891|REF_RGD_ID:8548891 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:21303825|REF_RGD_ID:5129179 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:9002234 Pituitary Neoplasms ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16977796 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:9003234 Hypertensive Nephropathy treatment ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:22089474|REF_RGD_ID:8548895 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:9003936 Cardiomegaly ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:11324571|PMID:21367774|REF_RGD_ID:10047105|REF_RGD_ID:5129174 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:9003936 Cardiomegaly ISO RGD:68977 D RGD:9068941 20200609 RGD PMID:10639182|REF_RGD_ID:737777 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:9004616 Left Ventricular Hypertrophy susceptibility ISO RGD:68977 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphism:3' utr:1166A>C PMID:15612584|REF_RGD_ID:1601151 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:18421211|REF_RGD_ID:2292665 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:68977 D RGD:7240710 20180130 OMIM 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:68977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal tubular dysgenesis | ClinVar Annotator: match by term: Renal tubular dysgenesis of genetic origin PMID:15042429|PMID:16116425|PMID:18641512|PMID:20948563|PMID:21179236|PMID:22095942|PMID:22569962|PMID:24033266|PMID:25741868|PMID:26220970|PMID:28492532|PMID:35005812|PMID:8021009|PMID:9084931 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:2070 D RGD:9068941 20200609 RGD mRNA:increased expression:artery: PMID:9918604|REF_RGD_ID:10047106 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:9006358 Postoperative Cognitive Dysfunction ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:24814703|REF_RGD_ID:10047100 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.5186A>C PMID:17211857|REF_RGD_ID:1601146 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:9007174 Ventricular Remodeling ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:18252761|REF_RGD_ID:10047108 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2070 D RGD:9068941 20200609 RGD protein:increased expression:myocardium PMID:21078800|REF_RGD_ID:5129194 12233622 AGTR1 angiotensin II receptor type 1 gene DOID:9620 vesicoureteral reflux ISO RGD:68977 D RGD:9068941 20200609 RGD PMID:11819209|REF_RGD_ID:6903866 12233631 CYC1 cytochrome c1 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1315303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12233631 CYC1 cytochrome c1 gene DOID:0080115 mitochondrial complex III deficiency nuclear type 6 ISO RGD:1315303 D RGD:7240710 20180130 OMIM 12233631 CYC1 cytochrome c1 gene DOID:0080115 mitochondrial complex III deficiency nuclear type 6 ISO RGD:1315303 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 6 PMID:23910460|PMID:25741868|PMID:28492532 12233631 CYC1 cytochrome c1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1315303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12233631 CYC1 cytochrome c1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1315303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12233631 CYC1 cytochrome c1 gene DOID:4621 holoprosencephaly ISO RGD:1315303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12233631 CYC1 cytochrome c1 gene DOID:630 genetic disease ISO RGD:1315303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12233642 RPL8 ribosomal protein L8 gene DOID:630 genetic disease ISO RGD:735772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233652 TLE1 TLE family member 1, transcriptional corepressor gene DOID:630 genetic disease ISO RGD:1319465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233675 TIMM50 translocase of inner mitochondrial membrane 50 gene DOID:0070002 3-methylglutaconic aciduria type 9 ISO RGD:1606193 D RGD:7240710 20190315 OMIM 12233675 TIMM50 translocase of inner mitochondrial membrane 50 gene DOID:0070002 3-methylglutaconic aciduria type 9 ISO RGD:1606193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 9 PMID:25741868|PMID:27573165|PMID:28492532|PMID:30190335|PMID:31058414|PMID:32369862 12233675 TIMM50 translocase of inner mitochondrial membrane 50 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1606193 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12233675 TIMM50 translocase of inner mitochondrial membrane 50 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1606193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12233675 TIMM50 translocase of inner mitochondrial membrane 50 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1606193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12233675 TIMM50 translocase of inner mitochondrial membrane 50 gene DOID:2340 craniosynostosis ISO RGD:1606193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12233675 TIMM50 translocase of inner mitochondrial membrane 50 gene DOID:630 genetic disease ISO RGD:1606193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:30765764|PMID:31058414|PMID:9536098 12233675 TIMM50 translocase of inner mitochondrial membrane 50 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1606193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12233675 TIMM50 translocase of inner mitochondrial membrane 50 gene DOID:9007385 Mitochondrial Encephalopathy ISO RGD:1606193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalopathy PMID:25741868|PMID:30190335 12233675 TIMM50 translocase of inner mitochondrial membrane 50 gene DOID:9269 maple syrup urine disease ISO RGD:1606193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12233675 TIMM50 translocase of inner mitochondrial membrane 50 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1606193 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12233690 HSPBAP1 HSPB1 associated protein 1 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1352308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12233690 HSPBAP1 HSPB1 associated protein 1 gene DOID:630 genetic disease ISO RGD:1352308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233690 HSPBAP1 HSPB1 associated protein 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1352308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12233690 HSPBAP1 HSPB1 associated protein 1 gene DOID:9270 alkaptonuria ISO RGD:1352308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12233715 ZC3H14 zinc finger CCCH-type containing 14 gene DOID:0081217 autosomal recessive intellectual developmental disorder 56 ISO RGD:732811 D RGD:7240710 20190315 OMIM 12233715 ZC3H14 zinc finger CCCH-type containing 14 gene DOID:0081217 autosomal recessive intellectual developmental disorder 56 ISO RGD:732811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 56 PMID:21734151|PMID:25741868|PMID:28492532 12233715 ZC3H14 zinc finger CCCH-type containing 14 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:732811 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 12233715 ZC3H14 zinc finger CCCH-type containing 14 gene DOID:1059 intellectual disability ISO RGD:732811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12233715 ZC3H14 zinc finger CCCH-type containing 14 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12233715 ZC3H14 zinc finger CCCH-type containing 14 gene DOID:630 genetic disease ISO RGD:732811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12233742 TOP2A DNA topoisomerase II alpha gene DOID:0060074 ductal carcinoma in situ severity ISO RGD:1352729 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:11070118|REF_RGD_ID:2315133 12233742 TOP2A DNA topoisomerase II alpha gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1352729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dna topoisomerase II, resistance to inhibition of, by amsacrine PMID:1651812 12233742 TOP2A DNA topoisomerase II alpha gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12233742 TOP2A DNA topoisomerase II alpha gene DOID:0080600 COVID-19 ISO RGD:1352729 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12233742 TOP2A DNA topoisomerase II alpha gene DOID:10283 prostate cancer ISO RGD:1352729 D RGD:9068941 20200609 RGD PMID:18347174|REF_RGD_ID:2315130 12233742 TOP2A DNA topoisomerase II alpha gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1352729 D RGD:9068941 20200609 RGD PMID:19913893|REF_RGD_ID:2315121 12233742 TOP2A DNA topoisomerase II alpha gene DOID:11612 polycystic ovary syndrome ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12233742 TOP2A DNA topoisomerase II alpha gene DOID:11624 penile benign neoplasm severity ISO RGD:1352729 D RGD:9068941 20200609 RGD PMID:18489530|REF_RGD_ID:2315128 12233742 TOP2A DNA topoisomerase II alpha gene DOID:1240 leukemia ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15833037 12233742 TOP2A DNA topoisomerase II alpha gene DOID:2154 nephroblastoma ISO RGD:1352729 D RGD:9068941 20200609 RGD PMID:16556665|REF_RGD_ID:2315131 12233742 TOP2A DNA topoisomerase II alpha gene DOID:2154 nephroblastoma ISO RGD:1352729 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:12438255|REF_RGD_ID:2315132 12233742 TOP2A DNA topoisomerase II alpha gene DOID:2843 long QT syndrome ISO RGD:1352729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12233742 TOP2A DNA topoisomerase II alpha gene DOID:3070 high grade glioma ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18402387 12233742 TOP2A DNA topoisomerase II alpha gene DOID:3910 lung adenocarcinoma ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12233742 TOP2A DNA topoisomerase II alpha gene DOID:3948 adrenocortical carcinoma ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23533247 12233742 TOP2A DNA topoisomerase II alpha gene DOID:630 genetic disease ISO RGD:1352729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233742 TOP2A DNA topoisomerase II alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12233742 TOP2A DNA topoisomerase II alpha gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1352729 D RGD:9068941 20200609 RGD PMID:19051821|REF_RGD_ID:2315126 12233742 TOP2A DNA topoisomerase II alpha gene DOID:9000918 Disease Progression ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22204715|PMID:30132517 12233742 TOP2A DNA topoisomerase II alpha gene DOID:9002265 Kidney Neoplasms disease_progression ISO RGD:1352729 D RGD:9068941 20200609 RGD PMID:19539329|REF_RGD_ID:2315122 12233742 TOP2A DNA topoisomerase II alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17363613 12233742 TOP2A DNA topoisomerase II alpha gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1352729 D RGD:9068941 20200609 RGD PMID:19270648|REF_RGD_ID:2315125 12233742 TOP2A DNA topoisomerase II alpha gene DOID:9002801 Recurrence ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20079691|PMID:22204715|PMID:30132517 12233742 TOP2A DNA topoisomerase II alpha gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12233742 TOP2A DNA topoisomerase II alpha gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1352729 D RGD:9068941 20200609 RGD PMID:19347305|REF_RGD_ID:2315124 12233742 TOP2A DNA topoisomerase II alpha gene DOID:9004484 Sepsis ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27978524 12233742 TOP2A DNA topoisomerase II alpha gene DOID:9006205 Animal Disease Models ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12233742 TOP2A DNA topoisomerase II alpha gene DOID:9007188 Liver Neoplasms ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30132517 12233742 TOP2A DNA topoisomerase II alpha gene DOID:9008939 Breast Neoplasms ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11583189|PMID:12006526|PMID:16234514|PMID:22204715 12233742 TOP2A DNA topoisomerase II alpha gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1352729 D RGD:9068941 20200609 RGD PMID:19996222|REF_RGD_ID:2315120 12233742 TOP2A DNA topoisomerase II alpha gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1352729 D RGD:9068941 20200609 RGD DNA:amplification, deletion (human) PMID:18465341|REF_RGD_ID:2315129 12233742 TOP2A DNA topoisomerase II alpha gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1352729 D RGD:9068941 20200609 RGD DNA:deletion (human) PMID:18702822|REF_RGD_ID:2315127 12233787 LAS1L LAS1 like ribosome biogenesis factor gene DOID:0060041 autism spectrum disorder ISO RGD:1354295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12233787 LAS1L LAS1 like ribosome biogenesis factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12233787 LAS1L LAS1 like ribosome biogenesis factor gene DOID:0060814 Wilson-Turner syndrome ISO RGD:1354295 D RGD:7240710 20190315 OMIM 12233787 LAS1L LAS1 like ribosome biogenesis factor gene DOID:0060814 Wilson-Turner syndrome ISO RGD:1354295 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wilson-Turner syndrome PMID:1746601|PMID:24647030|PMID:25644381|PMID:25741868|PMID:28492532 12233787 LAS1L LAS1 like ribosome biogenesis factor gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1354295 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:9383023 12233787 LAS1L LAS1 like ribosome biogenesis factor gene DOID:1059 intellectual disability ISO RGD:1354295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12233787 LAS1L LAS1 like ribosome biogenesis factor gene DOID:12849 autistic disorder ISO RGD:1354295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12233787 LAS1L LAS1 like ribosome biogenesis factor gene DOID:630 genetic disease ISO RGD:1354295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12233787 LAS1L LAS1 like ribosome biogenesis factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12233787 LAS1L LAS1 like ribosome biogenesis factor gene DOID:9008086 Developmental Disabilities ISO RGD:1354295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25644381|PMID:28492532 12233812 CKAP4 cytoskeleton associated protein 4 gene DOID:630 genetic disease ISO RGD:1323735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233812 CKAP4 cytoskeleton associated protein 4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1323735 D RGD:9068941 20220616 RGD associated with tumor vascularization; mRNA,protein:increased expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 12233818 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:0050722 PHGDH deficiency ISO RGD:1318588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:14645240|PMID:24836451|PMID:28492532 12233818 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:1318588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia PMID:10599696|PMID:10651755|PMID:10656999|PMID:10770215|PMID:10973654|PMID:11196452|PMID:12050213|PMID:12050224|PMID:15585552|PMID:18252794|PMID:21340167|PMID:22579964|PMID:24033266|PMID:25211449|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30029738|PMID:30668521|PMID:30719691|PMID:31006099|PMID:31533357|PMID:31950145|PMID:34055358|PMID:34628416|PMID:7633460|PMID:7651769|PMID:8004103|PMID:8060486 12233818 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1318588 D RGD:9068941 20200609 RGD mRNA:altered expression:cerebellum, hippocampus (human) PMID:18180323|REF_RGD_ID:4889108 12233818 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:10763 hypertension ISO RGD:67377 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus (rat) PMID:16116051|REF_RGD_ID:1599701 12233818 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:10892 hypospadias ISO RGD:1318588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14764821 12233818 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:10892 hypospadias ISO RGD:1318588 D RGD:9068941 20200609 RGD DNA:point mutation:CDS:heterozygous S213T or S284R, result in decreased enzyme activity PMID:14764821|REF_RGD_ID:1625114 12233818 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:11383 cryptorchidism ISO RGD:1318588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26050606 12233818 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1318588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22381227 12233818 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1318588 D RGD:9068941 20200609 RGD protein:increased activity:ovary follicle, theca cell (human) PMID:11739466|REF_RGD_ID:4888511 12233818 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:12700 hyperprolactinemia ISO RGD:67377 D RGD:9068941 20200609 RGD mRNA:increased expression:skin (rat) PMID:8027581|REF_RGD_ID:4889559 12233818 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1318588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 12233818 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:3070 high grade glioma ISO RGD:1318588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12233818 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:630 genetic disease ISO RGD:1318588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233818 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1318588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 12233818 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:9000779 Hypospadias 1, X-Linked ISO RGD:1318588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypospadias 1, X-linked 12233818 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17823934 12233818 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:9004890 Paranoid Disorders ISO RGD:1318588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22356824 12233818 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:9005105 Adrenal Hyperplasia 2 ISO RGD:1318588 D RGD:7240710 20180130 OMIM 12233818 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:9005105 Adrenal Hyperplasia 2 ISO RGD:1318588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3 beta-Hydroxysteroid dehydrogenase deficiency PMID:10486704|PMID:10599696|PMID:10651755|PMID:10656999|PMID:10770215|PMID:10843183|PMID:10973654|PMID:11196452|PMID:11287026|PMID:1196451|PMID:12050213|PMID:12050224|PMID:1363812|PMID:14966389|PMID:16648810|PMID:17689071|PMID:1825279|PMID:18252794|PMID:22343390|PMID:22579964|PMID:24033266|PMID:25741868|PMID:26021573|PMID:26288759|PMID:26467025|PMID:2755580|PMID:27626911|PMID:27796263|PMID:27899157|PMID:28207417|PMID:28492532|PMID:28870780|PMID:295036|PMID:30029738|PMID:30668521|PMID:30719691|PMID:31006099|PMID:31533357|PMID:31611844|PMID:31950145|PMID:34055358|PMID:4539073|PMID:7633460|PMID:8060486|PMID:8185809|PMID:8316254|PMID:9719627 12233826 ARL2 ADP ribosylation factor like GTPase 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12233826 ARL2 ADP ribosylation factor like GTPase 2 gene DOID:1059 intellectual disability ISO RGD:735885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12233826 ARL2 ADP ribosylation factor like GTPase 2 gene DOID:1909 melanoma ISO RGD:735885 D RGD:9068941 20210528 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12233826 ARL2 ADP ribosylation factor like GTPase 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:735885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12233826 ARL2 ADP ribosylation factor like GTPase 2 gene DOID:2746 glycogen storage disease V ISO RGD:735885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12233826 ARL2 ADP ribosylation factor like GTPase 2 gene DOID:3070 high grade glioma ISO RGD:735885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12233826 ARL2 ADP ribosylation factor like GTPase 2 gene DOID:630 genetic disease ISO RGD:735885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233826 ARL2 ADP ribosylation factor like GTPase 2 gene DOID:9008938 Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 ISO RGD:735885 D RGD:7240710 20210526 OMIM 12233826 ARL2 ADP ribosylation factor like GTPase 2 gene DOID:9008938 Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 ISO RGD:735885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 PMID:30945270 12233845 PTBP1 polypyrimidine tract binding protein 1 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:732339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 12233845 PTBP1 polypyrimidine tract binding protein 1 gene DOID:305 carcinoma ISO RGD:732339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12233845 PTBP1 polypyrimidine tract binding protein 1 gene DOID:3347 osteosarcoma ISO RGD:732339 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34508303 12233845 PTBP1 polypyrimidine tract binding protein 1 gene DOID:5339 cyclic hematopoiesis ISO RGD:732339 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12233845 PTBP1 polypyrimidine tract binding protein 1 gene DOID:630 genetic disease ISO RGD:732339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233845 PTBP1 polypyrimidine tract binding protein 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:732339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12233845 PTBP1 polypyrimidine tract binding protein 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12233871 DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1317589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:24218364|PMID:25118025|PMID:27270108 12233871 DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:0111251 Parkinson's disease 21 ISO RGD:1317589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease 21 PMID:24218364|PMID:25118025|PMID:27270108|PMID:28492532 12233871 DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:12712 nephronophthisis ISO RGD:1317589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 12233871 DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:14330 Parkinson's disease ISO RGD:1317589 D RGD:9068941 20200609 RGD PMID:25701813|REF_RGD_ID:10450845 12233871 DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:4990 essential tremor ISO RGD:1317589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:24218364|PMID:25118025|PMID:27270108 12233871 DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:630 genetic disease ISO RGD:1317589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233871 DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:8725 vascular dementia ISO RGD:1317589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 12233871 DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1317589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12233871 DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:9270 alkaptonuria ISO RGD:1317589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12233947 NKAIN4 sodium/potassium transporting ATPase interacting 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12233947 NKAIN4 sodium/potassium transporting ATPase interacting 4 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1314067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12233947 NKAIN4 sodium/potassium transporting ATPase interacting 4 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1314067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12233947 NKAIN4 sodium/potassium transporting ATPase interacting 4 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1314067 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12233947 NKAIN4 sodium/potassium transporting ATPase interacting 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12233947 NKAIN4 sodium/potassium transporting ATPase interacting 4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1314067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12233947 NKAIN4 sodium/potassium transporting ATPase interacting 4 gene DOID:630 genetic disease ISO RGD:1314067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233963 SH3PXD2A SH3 and PX domains 2A gene DOID:0060224 atrial fibrillation ISO RGD:1322510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28416822 12233963 SH3PXD2A SH3 and PX domains 2A gene DOID:630 genetic disease ISO RGD:1322510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12233963 SH3PXD2A SH3 and PX domains 2A gene DOID:9007096 Stroke ISO RGD:1322510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 12233989 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:0050674 congenital bile acid synthesis defect ISO RGD:735270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect PMID:25741868|PMID:28492532 12233989 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:0050952 spastic ataxia ISO RGD:735270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 12233989 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:735270 D RGD:7240710 20180130 OMIM 12233989 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:735270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A PMID:12874406|PMID:15007371|PMID:16199547|PMID:17576681|PMID:18252231|PMID:18855023|PMID:19187859|PMID:19363635|PMID:19439320|PMID:1943942|PMID:19439420|PMID:19812052|PMID:21214876|PMID:21452256|PMID:21541746|PMID:21567895|PMID:21623769|PMID:21966169|PMID:22384504|PMID:22652365|PMID:23812641|PMID:24033266|PMID:24117163|PMID:2411763|PMID:24340040|PMID:24519355|PMID:24658845|PMID:24927729|PMID:25326635|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26370385|PMID:26374131|PMID:26467025|PMID:26714052|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27879220|PMID:27957547|PMID:28039895|PMID:28492532|PMID:28832565|PMID:29126212|PMID:29228183|PMID:29482223|PMID:29980238|PMID:31227335|PMID:31407473|PMID:32202070|PMID:7987300|PMID:9536098|PMID:9802883 12233989 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:0111070 congenital bile acid synthesis defect 3 ISO RGD:735270 D RGD:7240710 20180130 OMIM 12233989 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:0111070 congenital bile acid synthesis defect 3 ISO RGD:735270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 3 PMID:18252231|PMID:18367963|PMID:19363635|PMID:19439420|PMID:19812052|PMID:21541746|PMID:21567895|PMID:21623769|PMID:23812641|PMID:24117163|PMID:24641183|PMID:25741868|PMID:28039895|PMID:28492532|PMID:29980238|PMID:9802883 12233989 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:13580 cholestasis ISO RGD:735270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9802883 12233989 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:735270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:12874406|PMID:15007371|PMID:18252231|PMID:18367963|PMID:18855023|PMID:19187859|PMID:19363635|PMID:19439420|PMID:19812052|PMID:21214876|PMID:21541746|PMID:21567895|PMID:21623769|PMID:21966169|PMID:22384504|PMID:23812641|PMID:24033266|PMID:24117163|PMID:2411763|PMID:24340040|PMID:24641183|PMID:24658845|PMID:24927729|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26370385|PMID:26467025|PMID:26714052|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27957547|PMID:28492532|PMID:28832565|PMID:29228183|PMID:29980238|PMID:7987300 12233989 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:735270 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:12874406|PMID:15007371|PMID:17576681|PMID:18252231|PMID:18367963|PMID:18855023|PMID:19187859|PMID:19363635|PMID:1943942|PMID:19439420|PMID:19812052|PMID:21214876|PMID:21541746|PMID:21567895|PMID:21623769|PMID:21966169|PMID:22384504|PMID:23812641|PMID:24033266|PMID:24117163|PMID:2411763|PMID:24340040|PMID:24641183|PMID:24658845|PMID:24927729|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26370385|PMID:26467025|PMID:26714052|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27879220|PMID:27957547|PMID:28039895|PMID:28492532|PMID:28832565|PMID:29126212|PMID:29228183|PMID:29246610|PMID:29980238|PMID:32202070|PMID:7987300|PMID:9536098|PMID:9802883 12233989 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:299 adenocarcinoma ISO RGD:735270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17639508 12233989 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:3146 lipid metabolism disorder ISO RGD:735270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18252231 12233989 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:409 liver disease ISO RGD:735270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9802883 12233989 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:607 paraplegia ISO RGD:735270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:15007371|PMID:16199547|PMID:17576681|PMID:18252231|PMID:18367963|PMID:18855023|PMID:19187859|PMID:19363635|PMID:19439320|PMID:1943942|PMID:19439420|PMID:19812052|PMID:21214876|PMID:21452256|PMID:21541746|PMID:21567895|PMID:21623769|PMID:21966169|PMID:22384504|PMID:22652365|PMID:23812641|PMID:24033266|PMID:24117163|PMID:2411763|PMID:24340040|PMID:24482476|PMID:24519355|PMID:24641183|PMID:24658845|PMID:24927729|PMID:25326635|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26370385|PMID:26374131|PMID:26467025|PMID:26714052|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27879220|PMID:27957547|PMID:28039895|PMID:28492532|PMID:28832565|PMID:29126212|PMID:29228183|PMID:29246610|PMID:29482223|PMID:29980238|PMID:31227335|PMID:31407473|PMID:7987300|PMID:9536098|PMID:9802883 12233989 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:630 genetic disease ISO RGD:735270 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18367963|PMID:19363635|PMID:19439420|PMID:21541746|PMID:21567895|PMID:24117163|PMID:24641183|PMID:25741868|PMID:28039895|PMID:28492532|PMID:29980238|PMID:9802883 12233989 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17639508 12233989 CYP7B1 cytochrome P450 family 7 subfamily B member 1 gene DOID:9452 fatty liver disease ISO RGD:735270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23391614 12234009 GID8 GID complex subunit 8 homolog gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12234009 GID8 GID complex subunit 8 homolog gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1346039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12234009 GID8 GID complex subunit 8 homolog gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1346039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12234009 GID8 GID complex subunit 8 homolog gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1346039 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12234009 GID8 GID complex subunit 8 homolog gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12234009 GID8 GID complex subunit 8 homolog gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12234009 GID8 GID complex subunit 8 homolog gene DOID:630 genetic disease ISO RGD:1346039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234026 TBCCD1 TBCC domain containing 1 gene DOID:0060575 3MC syndrome 1 ISO RGD:1605661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 12234026 TBCCD1 TBCC domain containing 1 gene DOID:630 genetic disease ISO RGD:1605661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234055 NAB1 NGFI-A binding protein 1 gene DOID:0111944 immunodeficiency 31B ISO RGD:736700 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 12234055 NAB1 NGFI-A binding protein 1 gene DOID:630 genetic disease ISO RGD:736700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234055 NAB1 NGFI-A binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:0050753 cerebellar ataxia ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:19289823|PMID:19420365|PMID:20651251|PMID:20807765|PMID:32581362 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:0060178 familial hemiplegic migraine ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:0060484 EAST syndrome IAGP D RGD:12801476 20221221 OMIA Ataxia, cerebellar, KCNJ10-related PMID:4747697|PMID:2061870|PMID:15320590|PMID:21488963|PMID:22634896|PMID:22872628|PMID:24736825|PMID:24736826|PMID:24708069|PMID:25998802|PMID:27724896|PMID:27966545|PMID:28007838|PMID:28079058|PMID:33769611|PMID:36426918 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:0060484 EAST syndrome ISO RGD:731912 D RGD:7240710 20180130 OMIM 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:0060484 EAST syndrome ISO RGD:731912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy | ClinVar Annotator: match by term: SeSAME-like syndrome | ClinVar Annotator: match by term: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome PMID:19289823|PMID:19420365|PMID:19426954|PMID:20651251|PMID:20678478|PMID:20807765|PMID:21088294|PMID:21221631|PMID:21458570|PMID:21849804|PMID:22612257|PMID:22782654|PMID:23869231|PMID:23918157|PMID:23924083|PMID:23965030|PMID:24193250|PMID:24378235|PMID:24480364|PMID:24561201|PMID:24860705|PMID:25372295|PMID:25741868|PMID:26467025|PMID:26867573|PMID:27171548|PMID:27182706|PMID:27500072|PMID:27535533|PMID:27677466|PMID:27875746|PMID:27884173|PMID:28492532|PMID:28747464|PMID:28835827|PMID:29191078|PMID:29615871|PMID:30304693|PMID:30733538|PMID:32062759|PMID:32233732|PMID:32581362|PMID:33084218 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:0060744 Pendred syndrome ISO RGD:731912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome PMID:19289823|PMID:20651251|PMID:20678478|PMID:20807765|PMID:21088294|PMID:21458570|PMID:21849804|PMID:22612257|PMID:23869231|PMID:23924083|PMID:24193250|PMID:24561201|PMID:25741868|PMID:26467025|PMID:26867573|PMID:27171548|PMID:27677466|PMID:27875746|PMID:28492532|PMID:28747464|PMID:32062759 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:731912 D RGD:7240710 20180130 OMIM 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:731912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-Related Disorders | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 PMID:19289823|PMID:19426954|PMID:20651251|PMID:20678478|PMID:20807765|PMID:21088294|PMID:21458570|PMID:21849804|PMID:22612257|PMID:23869231|PMID:23918157|PMID:23924083|PMID:24193250|PMID:24378235|PMID:24561201|PMID:24860705|PMID:25372295|PMID:25741868|PMID:26467025|PMID:26867573|PMID:27171548|PMID:27677466|PMID:27875746|PMID:28492532|PMID:28747464|PMID:30733538|PMID:32062759|PMID:32233732 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:10003 sensorineural hearing loss ISO RGD:61822 D RGD:9068941 20200609 RGD protein:decreased expression:cochlea: PMID:23827367|REF_RGD_ID:7349365 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:1059 intellectual disability ISO RGD:731912 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23869231|PMID:24378235|PMID:25741868|PMID:26467025|PMID:27677466|PMID:27875746|PMID:28492532 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:1206 Rett syndrome ISO RGD:62113 D RGD:9068941 20200609 RGD protein:increased expression:locus ceruleus PMID:21307341|REF_RGD_ID:8662896 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:12849 autistic disorder ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21458570|PMID:23965030|PMID:25741868|PMID:26467025|PMID:27182706|PMID:27535533|PMID:27677466|PMID:27884173|PMID:28492532|PMID:29615871|PMID:30304693 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:13141 uveitis ISO RGD:61822 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:retina PMID:17356517|REF_RGD_ID:8662881 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:1540 parathyroid carcinoma ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:1727 retinal vein occlusion ISO RGD:61822 D RGD:9068941 20200609 RGD PMID:21487926|REF_RGD_ID:5490120 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:1826 epilepsy ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:21458570|PMID:23965030|PMID:24378235|PMID:25741868|PMID:26467025|PMID:27182706|PMID:27535533|PMID:27677466|PMID:27884173|PMID:28492532|PMID:29615871|PMID:30304693 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:1826 epilepsy ISO RGD:731912 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:24378235|PMID:26467025|PMID:28492532 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:224 transient cerebral ischemia ISO RGD:61822 D RGD:9068941 20200609 RGD protein:decreased expression:CA1 field of hippocampus, astrocyte, astrocyte projection PMID:20833221|REF_RGD_ID:8662899 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:2377 multiple sclerosis ISO RGD:731912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24070676 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:2548 reflex epilepsy treatment ISO RGD:61822 D RGD:9068941 20200609 RGD PMID:30813600|REF_RGD_ID:14995940 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:2661 myoepithelioma ISO RGD:731912 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:3213 demyelinating disease ISO RGD:62113 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, blood vessel PMID:24070676|REF_RGD_ID:8662892 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:61822 D RGD:9068941 20200609 RGD protein:decreased expression:brainstem PMID:22987392|REF_RGD_ID:8662893 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:574 peripheral nervous system disease ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:630 genetic disease ISO RGD:731912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19289823|PMID:20651251|PMID:20678478|PMID:20807765|PMID:21088294|PMID:21221631|PMID:21458570|PMID:23869231|PMID:23918157|PMID:23924083|PMID:23965030|PMID:24193250|PMID:24378235|PMID:24480364|PMID:24860705|PMID:25372295|PMID:25741868|PMID:26467025|PMID:27171548|PMID:27182706|PMID:27500072|PMID:27535533|PMID:27677466|PMID:27875746|PMID:27884173|PMID:28492532|PMID:29191078|PMID:29615871|PMID:30304693|PMID:32062759|PMID:32233732 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:61822 D RGD:9068941 20200609 RGD protein:decreased expression:dorsal plus ventral thalamus, cerebral cortex, astrocyte projection PMID:23603404|REF_RGD_ID:8662897 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:8466 retinal degeneration ISO RGD:61822 D RGD:9068941 20200609 RGD PMID:22055109|REF_RGD_ID:8662888 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:870 neuropathy ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:8947 diabetic retinopathy treatment ISO RGD:61822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21672350|PMID:22143324|REF_RGD_ID:8662869|REF_RGD_ID:8662907 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9000039 Spinal Cord Injuries ISO RGD:61822 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:20375134|REF_RGD_ID:8662905 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:61822 D RGD:9068941 20200609 RGD PMID:22420318|REF_RGD_ID:8662908 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9000998 Brain Injuries ISO RGD:61822 D RGD:9068941 20200609 RGD PMID:20861444|REF_RGD_ID:8662901 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:61822 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:16330144|REF_RGD_ID:8662868 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:62113 D RGD:9068941 20200609 RGD protein:decreased expression:retina, blood vessel PMID:20132867|REF_RGD_ID:8662890 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9004538 Hearing Loss ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:25741868|PMID:26467025|PMID:27171548|PMID:28492532 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9004590 Acute Liver Failure ISO RGD:61822 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cerebral cortex PMID:21538466|REF_RGD_ID:8662894 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9006534 Nervous System Malformations ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9008091 Optic Nerve Injuries ISO RGD:61822 D RGD:9068941 20200609 RGD PMID:20216911|REF_RGD_ID:2326035 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9008681 Deafness ISO RGD:62113 D RGD:9068941 20200609 RGD PMID:12618319|REF_RGD_ID:8662867 12234066 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12234079 LRRC8D leucine rich repeat containing 8 VRAC subunit D gene DOID:630 genetic disease ISO RGD:1320026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234091 ANGEL2 angel homolog 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1601837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12234091 ANGEL2 angel homolog 2 gene DOID:630 genetic disease ISO RGD:1601837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234091 ANGEL2 angel homolog 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12234128 CCDC3 coiled-coil domain containing 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1351886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12234128 CCDC3 coiled-coil domain containing 3 gene DOID:1070 primary open angle glaucoma ISO RGD:1351886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:28492532 12234128 CCDC3 coiled-coil domain containing 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1351886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:26614431 12234128 CCDC3 coiled-coil domain containing 3 gene DOID:630 genetic disease ISO RGD:1351886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234135 FBXL17 F-box and leucine rich repeat protein 17 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348950 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12234135 FBXL17 F-box and leucine rich repeat protein 17 gene DOID:630 genetic disease ISO RGD:1348950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234135 FBXL17 F-box and leucine rich repeat protein 17 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12234135 FBXL17 F-box and leucine rich repeat protein 17 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12234135 FBXL17 F-box and leucine rich repeat protein 17 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348950 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12234147 KLHL38 kelch like family member 38 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:2300033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12234147 KLHL38 kelch like family member 38 gene DOID:630 genetic disease ISO RGD:2300033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234155 FAM219B family with sequence similarity 219 member B gene DOID:0080554 congenital disorder of glycosylation Ib ISO RGD:1321800 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Saguenay Lac Saint Jean syndrome 12234155 FAM219B family with sequence similarity 219 member B gene DOID:2717 Bloom syndrome ISO RGD:1321800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12234155 FAM219B family with sequence similarity 219 member B gene DOID:5419 schizophrenia ISO RGD:1321800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12234155 FAM219B family with sequence similarity 219 member B gene DOID:630 genetic disease ISO RGD:1321800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234155 FAM219B family with sequence similarity 219 member B gene DOID:9256 colorectal cancer ISO RGD:1321800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12234175 SPACA1 sperm acrosome associated 1 gene DOID:630 genetic disease ISO RGD:1344211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234192 MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:0060067 Pearson syndrome ISO RGD:1344993 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pearson syndrome PMID:32906214|PMID:33633954 12234192 MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1344993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:12707444|PMID:16120329|PMID:8644732 12234192 MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:10652 Alzheimer's disease ISO RGD:1344993 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:10447460|REF_RGD_ID:5508713 12234192 MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:1344993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24088041|PMID:26633545 12234192 MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:12934 Kearns-Sayre syndrome ISO RGD:1344993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kearns-Sayre syndrome PMID:20301382 12234192 MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:14330 Parkinson's disease ISO RGD:1344993 D RGD:9068941 20200609 RGD DNA:missense mutations: :11253T>C, 12084C>T (human) PMID:10737123|REF_RGD_ID:5507832 12234192 MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:1826 epilepsy ISO RGD:1344993 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28027978 12234192 MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:3070 high grade glioma ISO RGD:1344993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12234192 MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:3652 Leigh disease ISO RGD:1344993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:12707444|PMID:1323207|PMID:14581685|PMID:1469456|PMID:15972314|PMID:16120329|PMID:17022785|PMID:20301353|PMID:25741868|PMID:28027978|PMID:30143805|PMID:3395302|PMID:8213827|PMID:8644732 12234192 MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:3687 MELAS syndrome ISO RGD:1344993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke PMID:1323207|PMID:3395302|PMID:8213827 12234192 MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:4448 macular degeneration ISO RGD:1344993 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:cds:m.11812A>G (human) PMID:19434233|REF_RGD_ID:5508704 12234192 MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:5419 schizophrenia ISO RGD:1344993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14623372 12234192 MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:5419 schizophrenia ISO RGD:1344993 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.I423T (human) PMID:14623372|REF_RGD_ID:5508711 12234192 MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:5419 schizophrenia ISO RGD:1344993 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L446H (human) PMID:16538224|REF_RGD_ID:5508705 12234192 MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:543 dystonia ISO RGD:1344993 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:28027978 12234192 MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:700 mitochondrial metabolism disease ISO RGD:1344993 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:10976107|PMID:11169561|PMID:11854175|PMID:12402249|PMID:12560876|PMID:12707444|PMID:1346348|PMID:1352537|PMID:1417830|PMID:16120329|PMID:16431939|PMID:16477364|PMID:16532388|PMID:1734726|PMID:1763894|PMID:1770533|PMID:1770665|PMID:1866007|PMID:18771762|PMID:1900003|PMID:19026397|PMID:1937476|PMID:1959619|PMID:1959931|PMID:20301353|PMID:20301382|PMID:2039048|PMID:2286378|PMID:2346190|PMID:2346203|PMID:2390098|PMID:2566021|PMID:2566116|PMID:25741868|PMID:2575667|PMID:2817063|PMID:30143805|PMID:3201231|PMID:7763260|PMID:8101084|PMID:8240101|PMID:8240102|PMID:8448903|PMID:8449667|PMID:8457609|PMID:8474822|PMID:8489402|PMID:8489411|PMID:8644732|PMID:9150158 12234192 MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1344993 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia PMID:10976107|PMID:11169561|PMID:11854175|PMID:12402249|PMID:12560876|PMID:12707444|PMID:1346348|PMID:1352537|PMID:1417830|PMID:1469456|PMID:16120329|PMID:16431939|PMID:16477364|PMID:16532388|PMID:1734726|PMID:1763894|PMID:1770533|PMID:1770665|PMID:1866007|PMID:18771762|PMID:1900003|PMID:19026397|PMID:1937476|PMID:1959619|PMID:1959931|PMID:20301353|PMID:2039048|PMID:2286378|PMID:2346190|PMID:2346203|PMID:2390098|PMID:2566021|PMID:2566116|PMID:25741868|PMID:2575667|PMID:2817063|PMID:30143805|PMID:3201231|PMID:7763260|PMID:8101084|PMID:8240101|PMID:8240102|PMID:8448903|PMID:8449667|PMID:8457609|PMID:8474822|PMID:8489402|PMID:8489411|PMID:8644732|PMID:9150158 12234192 MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:9000343 Vision Disorders ISO RGD:1344993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:25741868 12234192 MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1344993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy 12234192 MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:9004196 Leber Optic Atrophy, Susceptibility To ISO RGD:1344993 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leber optic atrophy, susceptibility to PMID:10976107|PMID:11169561|PMID:11854175|PMID:12402249|PMID:12560876|PMID:1346348|PMID:1352537|PMID:1417830|PMID:16431939|PMID:16477364|PMID:16532388|PMID:1734726|PMID:1763894|PMID:1770533|PMID:1770665|PMID:1866007|PMID:18771762|PMID:1900003|PMID:19026397|PMID:1937476|PMID:1959619|PMID:1959931|PMID:20301353|PMID:2039048|PMID:2286378|PMID:2346190|PMID:2346203|PMID:2390098|PMID:2566021|PMID:2566116|PMID:25741868|PMID:2575667|PMID:2817063|PMID:30143805|PMID:3201231|PMID:7763260|PMID:8101084|PMID:8240101|PMID:8240102|PMID:8448903|PMID:8449667|PMID:8457609|PMID:8474822|PMID:8489402|PMID:8489411|PMID:9150158 12234192 MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:9004538 Hearing Loss ISO RGD:1344993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28027978 12234192 MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:9005850 Hereditary Optic Atrophies ISO RGD:1344993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11695835|PMID:8662757 12234192 MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1344993 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:28027978 12234237 RNASE10 ribonuclease A family member 10 (inactive) gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1347818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12234237 RNASE10 ribonuclease A family member 10 (inactive) gene DOID:630 genetic disease ISO RGD:1347818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234253 SRARP steroid receptor associated and regulated protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603359 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12234292 GARIN5A golgi associated RAB2 interactor 5A gene DOID:630 genetic disease ISO RGD:1604551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234292 GARIN5A golgi associated RAB2 interactor 5A gene DOID:9007229 Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures ISO RGD:1604551 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and variable seizures PMID:25741868|PMID:35684946 12234301 TUBGCP2 tubulin gamma complex associated protein 2 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1320019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12234301 TUBGCP2 tubulin gamma complex associated protein 2 gene DOID:0081266 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures ISO RGD:1320019 D RGD:7240710 20200226 OMIM 12234301 TUBGCP2 tubulin gamma complex associated protein 2 gene DOID:0081266 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures ISO RGD:1320019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures PMID:25741868|PMID:31630790 12234301 TUBGCP2 tubulin gamma complex associated protein 2 gene DOID:630 genetic disease ISO RGD:1320019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234322 GPKOW G-patch domain and KOW motifs gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12234322 GPKOW G-patch domain and KOW motifs gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1343451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12234322 GPKOW G-patch domain and KOW motifs gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1343451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12234322 GPKOW G-patch domain and KOW motifs gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1343451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12234322 GPKOW G-patch domain and KOW motifs gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1343451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12234322 GPKOW G-patch domain and KOW motifs gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1343451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12234322 GPKOW G-patch domain and KOW motifs gene DOID:12849 autistic disorder ISO RGD:1343451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12234322 GPKOW G-patch domain and KOW motifs gene DOID:630 genetic disease ISO RGD:1343451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234346 ZBTB12 zinc finger and BTB domain containing 12 gene DOID:0050553 JMP syndrome ISO RGD:1342499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12234346 ZBTB12 zinc finger and BTB domain containing 12 gene DOID:630 genetic disease ISO RGD:1342499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234360 ZFPL1 zinc finger protein like 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12234360 ZFPL1 zinc finger protein like 1 gene DOID:1059 intellectual disability ISO RGD:1350269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12234360 ZFPL1 zinc finger protein like 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1350269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12234360 ZFPL1 zinc finger protein like 1 gene DOID:2746 glycogen storage disease V ISO RGD:1350269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12234360 ZFPL1 zinc finger protein like 1 gene DOID:3070 high grade glioma ISO RGD:1350269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12234360 ZFPL1 zinc finger protein like 1 gene DOID:630 genetic disease ISO RGD:1350269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234374 IGFLR1 IGF like family receptor 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1605956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12234374 IGFLR1 IGF like family receptor 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12234374 IGFLR1 IGF like family receptor 1 gene DOID:543 dystonia ISO RGD:1605956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12234374 IGFLR1 IGF like family receptor 1 gene DOID:630 genetic disease ISO RGD:1605956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234382 USP12 ubiquitin specific peptidase 12 gene DOID:630 genetic disease ISO RGD:1317587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234398 SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 gene DOID:0112372 Coffin-Siris syndrome 11 ISO RGD:1313419 D RGD:7240710 20200226 OMIM 12234398 SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 gene DOID:0112372 Coffin-Siris syndrome 11 ISO RGD:1313419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 11 PMID:25741868|PMID:30879640 12234398 SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 gene DOID:1168 familial hyperlipidemia ISO RGD:1305406 D RGD:9068941 20200609 RGD mRNA:decreased expression:thoracic aorta PMID:24615205|REF_RGD_ID:9586357 12234398 SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 gene DOID:630 genetic disease ISO RGD:1313419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12234398 SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1313419 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12234398 SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 gene DOID:987 alopecia ISO RGD:1313419 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Alopecia, androgenetic, 1 12234415 C3AR1 complement C3a receptor 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1353843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12234415 C3AR1 complement C3a receptor 1 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 12234415 C3AR1 complement C3a receptor 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1353843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12234415 C3AR1 complement C3a receptor 1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1353843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12234415 C3AR1 complement C3a receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1353843 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12234415 C3AR1 complement C3a receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1353843 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12234415 C3AR1 complement C3a receptor 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1353843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12234415 C3AR1 complement C3a receptor 1 gene DOID:0111621 Temtamy syndrome ISO RGD:1353843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12234415 C3AR1 complement C3a receptor 1 gene DOID:10283 prostate cancer ISO RGD:1353843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12234415 C3AR1 complement C3a receptor 1 gene DOID:11394 adult respiratory distress syndrome treatment ISO RGD:620537 D RGD:9068941 20200609 RGD PMID:16782534|REF_RGD_ID:2303017 12234415 C3AR1 complement C3a receptor 1 gene DOID:2841 asthma ISO RGD:620537 D RGD:9068941 20200609 RGD protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 12234415 C3AR1 complement C3a receptor 1 gene DOID:2841 asthma ISO RGD:731620 D RGD:9068941 20200609 RGD PMID:20802484|REF_RGD_ID:5129681 12234415 C3AR1 complement C3a receptor 1 gene DOID:2841 asthma ISO RGD:731620 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20045013|REF_RGD_ID:5129686 12234415 C3AR1 complement C3a receptor 1 gene DOID:2841 asthma ISO RGD:731620 D RGD:9068941 20200609 RGD protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 12234415 C3AR1 complement C3a receptor 1 gene DOID:2841 asthma severity ISO RGD:1353843 D RGD:9068941 20200609 RGD PMID:15278436|PMID:15940127|REF_RGD_ID:5129512|REF_RGD_ID:5129561 12234415 C3AR1 complement C3a receptor 1 gene DOID:4483 rhinitis severity ISO RGD:1353843 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity PMID:18538384|REF_RGD_ID:5129559 12234415 C3AR1 complement C3a receptor 1 gene DOID:552 pneumonia ISO RGD:731620 D RGD:9068941 20200609 RGD associated with Respiratory Syncytial Virus Infections PMID:17079327|REF_RGD_ID:5129688 12234415 C3AR1 complement C3a receptor 1 gene DOID:630 genetic disease ISO RGD:1353843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234415 C3AR1 complement C3a receptor 1 gene DOID:850 lung disease ISO RGD:620537 D RGD:9068941 20200609 RGD Acute Lung Injury;protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 12234415 C3AR1 complement C3a receptor 1 gene DOID:850 lung disease ISO RGD:731620 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:21421909|REF_RGD_ID:5129564 12234415 C3AR1 complement C3a receptor 1 gene DOID:850 lung disease ISO RGD:731620 D RGD:9068941 20200609 RGD Acute Lung Injury;protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 12234415 C3AR1 complement C3a receptor 1 gene DOID:874 bacterial pneumonia ISO RGD:731620 D RGD:9068941 20200609 RGD PMID:16461429|REF_RGD_ID:5129690 12234415 C3AR1 complement C3a receptor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:620537 D RGD:9068941 20200609 RGD PMID:15159277|REF_RGD_ID:5129702 12234415 C3AR1 complement C3a receptor 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1353843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12234415 C3AR1 complement C3a receptor 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:731620 D RGD:9068941 20200609 RGD protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 12234424 KIAA0513 KIAA0513 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1351889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12234424 KIAA0513 KIAA0513 gene DOID:5419 schizophrenia ISO RGD:1351889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12234424 KIAA0513 KIAA0513 gene DOID:630 genetic disease ISO RGD:1351889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234447 INO80E INO80 complex subunit E gene DOID:0060019 coronin-1A deficiency ISO RGD:1605827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12234447 INO80E INO80 complex subunit E gene DOID:0060041 autism spectrum disorder ISO RGD:1605827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12234447 INO80E INO80 complex subunit E gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1605827 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12234447 INO80E INO80 complex subunit E gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1605827 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12234447 INO80E INO80 complex subunit E gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1605827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12234447 INO80E INO80 complex subunit E gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1605827 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12234447 INO80E INO80 complex subunit E gene DOID:12849 autistic disorder ISO RGD:1605827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12234447 INO80E INO80 complex subunit E gene DOID:1882 atrial heart septal defect ISO RGD:1605827 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12234447 INO80E INO80 complex subunit E gene DOID:5419 schizophrenia ISO RGD:1605827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12234447 INO80E INO80 complex subunit E gene DOID:630 genetic disease ISO RGD:1605827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234447 INO80E INO80 complex subunit E gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12234447 INO80E INO80 complex subunit E gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1605827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12234447 INO80E INO80 complex subunit E gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1605827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12234464 GZMB granzyme B gene DOID:0060439 lysinuric protein intolerance ISO RGD:1353495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12234464 GZMB granzyme B gene DOID:0060500 drug allergy ISO RGD:1353495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19706026 12234464 GZMB granzyme B gene DOID:0080600 COVID-19 ISO RGD:1353495 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 12234464 GZMB granzyme B gene DOID:12849 autistic disorder ISO RGD:1353495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18762240 12234464 GZMB granzyme B gene DOID:2237 hepatitis ISO RGD:1353495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19706026 12234464 GZMB granzyme B gene DOID:2799 bronchiolitis obliterans ISO RGD:1353495 D RGD:9068941 20200609 RGD PMID:19737140|REF_RGD_ID:5135518 12234464 GZMB granzyme B gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1353495 D RGD:9068941 20200609 RGD PMID:20540777|REF_RGD_ID:5135516 12234464 GZMB granzyme B gene DOID:3454 brain infarction ISO RGD:620018 D RGD:9068941 20230216 RGD protein:increased expression:brain (rat) PMID:19895873|REF_RGD_ID:2325193 12234464 GZMB granzyme B gene DOID:630 genetic disease ISO RGD:1353495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234464 GZMB granzyme B gene DOID:9000265 Specific Granule Deficiency ISO RGD:1353495 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12234464 GZMB granzyme B gene DOID:9004610 Acute Lung Injury ISO RGD:733022 D RGD:9068941 20200609 RGD PMID:20018616|REF_RGD_ID:5135517 12234464 GZMB granzyme B gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1353495 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12234464 GZMB granzyme B gene DOID:9008939 Breast Neoplasms ISO RGD:1353495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19446661 12234473 TBX21 T-box transcription factor 21 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1317938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to PMID:15806396 12234473 TBX21 T-box transcription factor 21 gene DOID:0111579 asthma, nasal polyps, and aspirin intolerance ISO RGD:1317938 D RGD:7240710 20180130 OMIM 12234473 TBX21 T-box transcription factor 21 gene DOID:0111579 asthma, nasal polyps, and aspirin intolerance ISO RGD:1317938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance PMID:25741868 12234473 TBX21 T-box transcription factor 21 gene DOID:12365 malaria ISO RGD:1317938 D RGD:9068941 20200807 RGD PMID:19338000|REF_RGD_ID:38455985 12234473 TBX21 T-box transcription factor 21 gene DOID:2841 asthma ISO RGD:1317938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15806396 12234473 TBX21 T-box transcription factor 21 gene DOID:2841 asthma ISO RGD:1317939 D RGD:9068941 20220825 MouseDO OMIM:600807 12234473 TBX21 T-box transcription factor 21 gene DOID:630 genetic disease ISO RGD:1317938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234473 TBX21 T-box transcription factor 21 gene DOID:783 end stage renal disease ISO RGD:1317938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26970513 12234473 TBX21 T-box transcription factor 21 gene DOID:9000762 Immunodeficiency 88 ISO RGD:1317938 D RGD:7240710 20211201 OMIM 12234473 TBX21 T-box transcription factor 21 gene DOID:9000762 Immunodeficiency 88 ISO RGD:1317938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 88 PMID:25741868 12234473 TBX21 T-box transcription factor 21 gene DOID:9004484 Sepsis severity ISO RGD:1317938 D RGD:9068941 20200806 RGD PMID:25403265|REF_RGD_ID:38455982 12234473 TBX21 T-box transcription factor 21 gene DOID:9005372 Inflammation ISO RGD:1317938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22325453 12234473 TBX21 T-box transcription factor 21 gene DOID:9006961 Asthma and Nasal Polyps ISO RGD:1317938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma and nasal polyps PMID:15806396 12234483 ZNF630 zinc finger protein 630 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12234483 ZNF630 zinc finger protein 630 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1352524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 12234483 ZNF630 zinc finger protein 630 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1352524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12234483 ZNF630 zinc finger protein 630 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1352524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12234483 ZNF630 zinc finger protein 630 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1352524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12234483 ZNF630 zinc finger protein 630 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1352524 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12234483 ZNF630 zinc finger protein 630 gene DOID:12849 autistic disorder ISO RGD:1352524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12234483 ZNF630 zinc finger protein 630 gene DOID:630 genetic disease ISO RGD:1352524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234500 KDELR2 KDEL endoplasmic reticulum protein retention receptor 2 gene DOID:0112201 osteogenesis imperfecta type 21 ISO RGD:1312161 D RGD:7240710 20201223 OMIM 12234500 KDELR2 KDEL endoplasmic reticulum protein retention receptor 2 gene DOID:0112201 osteogenesis imperfecta type 21 ISO RGD:1312161 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type 21 PMID:25741868|PMID:33053334|PMID:33964184 12234500 KDELR2 KDEL endoplasmic reticulum protein retention receptor 2 gene DOID:630 genetic disease ISO RGD:1312161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234513 STXBP5L syntaxin binding protein 5L gene DOID:630 genetic disease ISO RGD:1323085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234513 STXBP5L syntaxin binding protein 5L gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1323085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12234513 STXBP5L syntaxin binding protein 5L gene DOID:9270 alkaptonuria ISO RGD:1323085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12234553 DIAPH1 diaphanous related formin 1 gene DOID:0060744 Pendred syndrome ISO RGD:1321771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:30311386 12234553 DIAPH1 diaphanous related formin 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1321771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12234553 DIAPH1 diaphanous related formin 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321771 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12234553 DIAPH1 diaphanous related formin 1 gene DOID:0110541 autosomal dominant nonsyndromic deafness 1 ISO RGD:1321771 D RGD:7240710 20180130 OMIM 12234553 DIAPH1 diaphanous related formin 1 gene DOID:0110541 autosomal dominant nonsyndromic deafness 1 ISO RGD:1321771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA | ClinVar Annotator: match by term: Deafness, autosomal dominant 1 | ClinVar Annotator: match by term: KONIGSMARK SYNDROME PMID:16199547|PMID:17576681|PMID:22938506|PMID:23804846|PMID:24033266|PMID:24781755|PMID:25342930|PMID:25741868|PMID:26011067|PMID:26463574|PMID:26467025|PMID:26912466|PMID:27707755|PMID:27808407|PMID:27911912|PMID:28492532|PMID:28815995|PMID:28983057|PMID:30311386|PMID:30896630|PMID:32678080|PMID:35307828|PMID:9360932|PMID:9536098 12234553 DIAPH1 diaphanous related formin 1 gene DOID:10003 sensorineural hearing loss susceptibility ISO RGD:1321771 D RGD:9068941 20200609 RGD autosomal dominant nonsyndromic sensorineural deafness 1, OMIM:124900;DNA:splice-site mutation PMID:9360932|REF_RGD_ID:1601058 12234553 DIAPH1 diaphanous related formin 1 gene DOID:10907 microcephaly ISO RGD:1321771 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24781755|PMID:25558065|PMID:25741868|PMID:28492532 12234553 DIAPH1 diaphanous related formin 1 gene DOID:14264 benign neonatal seizures ISO RGD:1321771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal seizure 12234553 DIAPH1 diaphanous related formin 1 gene DOID:1826 epilepsy ISO RGD:1321771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure Disorders PMID:24781755|PMID:25558065 12234553 DIAPH1 diaphanous related formin 1 gene DOID:3633 beta-mannosidosis ISO RGD:1321771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:28492532|PMID:30311386 12234553 DIAPH1 diaphanous related formin 1 gene DOID:630 genetic disease ISO RGD:1321771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22938506|PMID:24033266|PMID:28492532 12234553 DIAPH1 diaphanous related formin 1 gene DOID:8725 vascular dementia ISO RGD:1321771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:28492532|PMID:35307828 12234553 DIAPH1 diaphanous related formin 1 gene DOID:9001276 Failure to Thrive ISO RGD:1321771 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:24781755|PMID:25558065 12234553 DIAPH1 diaphanous related formin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12234553 DIAPH1 diaphanous related formin 1 gene DOID:9004538 Hearing Loss ISO RGD:1321771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:32581362 12234553 DIAPH1 diaphanous related formin 1 gene DOID:9005489 Seizures, Cortical Blindness, and Microcephaly Syndrome ISO RGD:1321771 D RGD:7240710 20180130 OMIM 12234553 DIAPH1 diaphanous related formin 1 gene DOID:9005489 Seizures, Cortical Blindness, and Microcephaly Syndrome ISO RGD:1321771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome PMID:16199547|PMID:17576681|PMID:22938506|PMID:23804846|PMID:24033266|PMID:24781755|PMID:25342930|PMID:25558065|PMID:25741868|PMID:26011067|PMID:26463574|PMID:26467025|PMID:26912466|PMID:27707755|PMID:27808407|PMID:27911912|PMID:28492532|PMID:28815995|PMID:28983057|PMID:30311386|PMID:30896630|PMID:32678080|PMID:35307828|PMID:9360932|PMID:9536098 12234553 DIAPH1 diaphanous related formin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321771 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12234553 DIAPH1 diaphanous related formin 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1321771 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24781755|PMID:25558065 12234609 ERFE erythroferrone gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1606147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12234609 ERFE erythroferrone gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1606147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12234609 ERFE erythroferrone gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1606147 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12234609 ERFE erythroferrone gene DOID:1059 intellectual disability ISO RGD:1606147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12234609 ERFE erythroferrone gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1606147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12234627 LMX1B LIM homeobox transcription factor 1 beta gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12234627 LMX1B LIM homeobox transcription factor 1 beta gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1345352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12234627 LMX1B LIM homeobox transcription factor 1 beta gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12234627 LMX1B LIM homeobox transcription factor 1 beta gene DOID:10966 lipoid nephrosis ISO RGD:1345352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lipoid nephrosis PMID:23687361|PMID:32581362 12234627 LMX1B LIM homeobox transcription factor 1 beta gene DOID:1168 familial hyperlipidemia ISO RGD:1345352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20199424 12234627 LMX1B LIM homeobox transcription factor 1 beta gene DOID:11836 clubfoot ISO RGD:1345352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19147669 12234627 LMX1B LIM homeobox transcription factor 1 beta gene DOID:1184 nephrotic syndrome ISO RGD:1345352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:23687361|PMID:24042019|PMID:25741868|PMID:26560070|PMID:28059119|PMID:28492532|PMID:29127259|PMID:32356190|PMID:32791958|PMID:33532864 12234627 LMX1B LIM homeobox transcription factor 1 beta gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1345352 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868|PMID:28492532 12234627 LMX1B LIM homeobox transcription factor 1 beta gene DOID:150 disease of mental health ISO RGD:1345352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20199424 12234627 LMX1B LIM homeobox transcription factor 1 beta gene DOID:557 kidney disease ISO RGD:1345352 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 12234627 LMX1B LIM homeobox transcription factor 1 beta gene DOID:576 proteinuria ISO RGD:1345352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19147669|PMID:20199424 12234627 LMX1B LIM homeobox transcription factor 1 beta gene DOID:630 genetic disease ISO RGD:1345352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12234627 LMX1B LIM homeobox transcription factor 1 beta gene DOID:9000363 Hematuria ISO RGD:1345352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19147669 12234627 LMX1B LIM homeobox transcription factor 1 beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12234627 LMX1B LIM homeobox transcription factor 1 beta gene DOID:9004576 Sleep Initiation and Maintenance Disorders ISO RGD:1345352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20199424 12234627 LMX1B LIM homeobox transcription factor 1 beta gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1345352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 12234627 LMX1B LIM homeobox transcription factor 1 beta gene DOID:9006677 Salcedo Syndrome ISO RGD:1345352 D RGD:7240710 20201223 OMIM 12234627 LMX1B LIM homeobox transcription factor 1 beta gene DOID:9006677 Salcedo Syndrome ISO RGD:1345352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nail-patella-like renal disease PMID:23687361|PMID:24042019|PMID:25741868|PMID:26560070|PMID:28059119|PMID:28492532|PMID:29127259|PMID:32356190|PMID:32581362|PMID:32791958|PMID:33532864 12234627 LMX1B LIM homeobox transcription factor 1 beta gene DOID:9467 nail-patella syndrome ISO RGD:1345352 D RGD:7240710 20180130 OMIM 12234627 LMX1B LIM homeobox transcription factor 1 beta gene DOID:9467 nail-patella syndrome ISO RGD:1345352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nail-patella syndrome PMID:10854116|PMID:15498463|PMID:15774843|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18414507|PMID:23687361|PMID:24042019|PMID:24720768|PMID:25741868|PMID:25898926|PMID:26380986|PMID:26560070|PMID:27450397|PMID:28059119|PMID:28335748|PMID:28492532|PMID:28780565|PMID:29127259|PMID:29869118|PMID:30881852|PMID:32356190|PMID:32791958|PMID:33532864|PMID:9536098|PMID:9590287|PMID:9618165|PMID:9837817 12234638 CES5A carboxylesterase 5A gene DOID:630 genetic disease ISO RGD:1606422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234658 CCNB3 cyclin B3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12234658 CCNB3 cyclin B3 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1352366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 12234658 CCNB3 cyclin B3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1352366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12234658 CCNB3 cyclin B3 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1352366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12234658 CCNB3 cyclin B3 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1352366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12234658 CCNB3 cyclin B3 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1352366 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 12234658 CCNB3 cyclin B3 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1352366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12234658 CCNB3 cyclin B3 gene DOID:12849 autistic disorder ISO RGD:1352366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12234658 CCNB3 cyclin B3 gene DOID:3347 osteosarcoma ISO RGD:1352366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22387997 12234658 CCNB3 cyclin B3 gene DOID:630 genetic disease ISO RGD:1352366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234658 CCNB3 cyclin B3 gene DOID:9007479 Habitual Abortions ISO RGD:1352366 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 1 12234689 TMEM14A transmembrane protein 14A gene DOID:630 genetic disease ISO RGD:1317058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234703 ORC3 origin recognition complex subunit 3 gene DOID:630 genetic disease ISO RGD:1318236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234736 ADAM32 ADAM metallopeptidase domain 32 gene DOID:630 genetic disease ISO RGD:1345583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234775 ANKRD37 ankyrin repeat domain 37 gene DOID:12849 autistic disorder ISO RGD:1604164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12234775 ANKRD37 ankyrin repeat domain 37 gene DOID:12930 dilated cardiomyopathy ISO RGD:1604164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 12234775 ANKRD37 ankyrin repeat domain 37 gene DOID:630 genetic disease ISO RGD:1604164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234775 ANKRD37 ankyrin repeat domain 37 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1604164 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 12234775 ANKRD37 ankyrin repeat domain 37 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1604164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 12234784 CEP15 centrosomal protein 15 gene DOID:630 genetic disease ISO RGD:1347639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234800 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1606289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25901006 12234800 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:0112095 nuclear type mitochondrial complex I deficiency 28 ISO RGD:1606289 D RGD:7240710 20190315 OMIM 12234800 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:0112095 nuclear type mitochondrial complex I deficiency 28 ISO RGD:1606289 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 PMID:25741868|PMID:25901006 12234800 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:14330 Parkinson's disease ISO RGD:1606289 D RGD:9068941 20200609 RGD PMID:26605748|REF_RGD_ID:13504667 12234800 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:3652 Leigh disease ISO RGD:1606289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868 12234800 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:630 genetic disease ISO RGD:1606289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12234800 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:8161 thyroid gland Hurthle cell carcinoma ISO RGD:1606289 D RGD:7240710 20180130 OMIM 12234800 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:8161 thyroid gland Hurthle cell carcinoma ISO RGD:1606289 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hurthle cell carcinoma of the thyroid PMID:15841082|PMID:25741868 12234809 PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:0080307 myofibrillar myopathy ISO RGD:1605346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12234809 PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:0080308 myofibrillar myopathy 8 ISO RGD:1605346 D RGD:7240710 20190315 OMIM 12234809 PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:0080308 myofibrillar myopathy 8 ISO RGD:1605346 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 8 PMID:17576681|PMID:25741868|PMID:27745833|PMID:28492532|PMID:30345904|PMID:30515627|PMID:31455395|PMID:32037607|PMID:33694278|PMID:9536098 12234809 PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:1605346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532 12234809 PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:32566746 12234809 PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:630 genetic disease ISO RGD:1605346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12234809 PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532|PMID:30224651 12234809 PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605346 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:28724667|PMID:29351780|PMID:30224651|PMID:32566746 12234831 CAPZA3 capping actin protein of muscle Z-line subunit alpha 3 gene DOID:12336 male infertility ISO RGD:1353508 D RGD:9068941 20200609 RGD mRNA:decreased expression:semen PMID:27114798|REF_RGD_ID:18899565 12234831 CAPZA3 capping actin protein of muscle Z-line subunit alpha 3 gene DOID:12336 male infertility ISO RGD:736848 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.M44K (human) PMID:19341723|REF_RGD_ID:19165126 12234831 CAPZA3 capping actin protein of muscle Z-line subunit alpha 3 gene DOID:630 genetic disease ISO RGD:1353508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234836 RPL7 ribosomal protein L7 gene DOID:630 genetic disease ISO RGD:1350931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234847 MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 gene DOID:1059 intellectual disability ISO RGD:1343433 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual disability 12234847 MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 gene DOID:1826 epilepsy ISO RGD:1343433 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12234847 MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 gene DOID:630 genetic disease ISO RGD:1343433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234847 MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343433 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12234871 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:0050214 Lambert-Eaton myasthenic syndrome ISO RGD:1347795 D RGD:9068941 20200609 RGD PMID:16289869|REF_RGD_ID:1626312 12234871 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:0050777 Joubert syndrome ISO RGD:1347795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12234871 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1347795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:28492532|PMID:30982612|PMID:31209758 12234871 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1347795 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12234871 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1347795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12234871 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1347795 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12234871 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:0081097 Rafiq syndrome ISO RGD:1347795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12234871 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:0090051 dystonia 23 ISO RGD:1347795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 23 PMID:21370267|PMID:25296916|PMID:25741868|PMID:26157024|PMID:28492532 12234871 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:1826 epilepsy ISO RGD:1347795 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:28492532 12234871 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:2377 multiple sclerosis ISO RGD:1347795 D RGD:9068941 20200609 RGD PMID:11353727|REF_RGD_ID:1580151 12234871 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:574 peripheral nervous system disease ISO RGD:1347795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22891239 12234871 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:630 genetic disease ISO RGD:1347795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12234871 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:9001474 Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements ISO RGD:1347795 D RGD:7240710 20190918 OMIM 12234871 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:9001474 Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements ISO RGD:1347795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements PMID:17576681|PMID:25741868|PMID:28492532|PMID:30982612|PMID:9536098 12234871 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:735793 D RGD:9068941 20200609 RGD PMID:27273361|REF_RGD_ID:13506726 12234871 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:9002211 Hyperalgesia ISO RGD:628852 D RGD:9068941 20200609 RGD PMID:17567797|REF_RGD_ID:1626313 12234871 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:628852 D RGD:9068941 20200609 RGD PMID:11353727|REF_RGD_ID:1580151 12234871 CACNA1B calcium voltage-gated channel subunit alpha1 B gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1347795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12234923 GARNL3 GTPase activating Rap/RanGAP domain like 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12234923 GARNL3 GTPase activating Rap/RanGAP domain like 3 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1346418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12234923 GARNL3 GTPase activating Rap/RanGAP domain like 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12234923 GARNL3 GTPase activating Rap/RanGAP domain like 3 gene DOID:1059 intellectual disability ISO RGD:1346418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 12234923 GARNL3 GTPase activating Rap/RanGAP domain like 3 gene DOID:630 genetic disease ISO RGD:1346418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234970 TSPAN6 tetraspanin 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12234970 TSPAN6 tetraspanin 6 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1347181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:21053371|PMID:23712037|PMID:27179713|PMID:28492532|PMID:29377098 12234970 TSPAN6 tetraspanin 6 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1347181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 12234970 TSPAN6 tetraspanin 6 gene DOID:12849 autistic disorder ISO RGD:1347181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12234970 TSPAN6 tetraspanin 6 gene DOID:630 genetic disease ISO RGD:1347181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234987 TSPAN10 tetraspanin 10 gene DOID:630 genetic disease ISO RGD:1602455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234994 CCNA2 cyclin A2 gene DOID:0080600 COVID-19 ISO RGD:1348754 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12234994 CCNA2 cyclin A2 gene DOID:1059 intellectual disability ISO RGD:1348754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12234994 CCNA2 cyclin A2 gene DOID:3308 embryonal carcinoma ISO RGD:1348754 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:14696091|REF_RGD_ID:2293346 12234994 CCNA2 cyclin A2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1348754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29464035 12234994 CCNA2 cyclin A2 gene DOID:5844 myocardial infarction ISO RGD:621059 D RGD:9068941 20200609 RGD protein:increased expression:cardiomyocyte: PMID:23634243|REF_RGD_ID:10054471 12234994 CCNA2 cyclin A2 gene DOID:6000 congestive heart failure ISO RGD:1550849 D RGD:9068941 20200609 RGD PMID:16820573|REF_RGD_ID:2293348 12234994 CCNA2 cyclin A2 gene DOID:630 genetic disease ISO RGD:1348754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12234994 CCNA2 cyclin A2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348754 D RGD:9068941 20200609 RGD associated with Seminoma;protein:increased expression:testis PMID:14696091|REF_RGD_ID:2293346 12234994 CCNA2 cyclin A2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12234994 CCNA2 cyclin A2 gene DOID:9002304 Prostatic Neoplasms severity ISO RGD:1550849 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:16452231|REF_RGD_ID:2293344 12234994 CCNA2 cyclin A2 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1348754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 12234994 CCNA2 cyclin A2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12234994 CCNA2 cyclin A2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1550849 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland PMID:10713672|REF_RGD_ID:2293347 12234994 CCNA2 cyclin A2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621059 D RGD:9068941 20200609 RGD PMID:20031167|REF_RGD_ID:2316310 12234994 CCNA2 cyclin A2 gene DOID:9006182 Carotid Artery Injuries ISO RGD:621059 D RGD:9068941 20200609 RGD mRNA:increased expression:artery: PMID:18667424|REF_RGD_ID:10054494 12234994 CCNA2 cyclin A2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1550849 D RGD:9068941 20200609 RGD PMID:17382628|REF_RGD_ID:10054468 12235006 IQCF2 IQ motif containing F2 gene DOID:630 genetic disease ISO RGD:1350039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12235013 INKA1 inka box actin regulator 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12235013 INKA1 inka box actin regulator 1 gene DOID:0080600 COVID-19 ISO RGD:1602805 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12235013 INKA1 inka box actin regulator 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12235013 INKA1 inka box actin regulator 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1602805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12235025 CDH10 cadherin 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1350088 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12235025 CDH10 cadherin 10 gene DOID:12849 autistic disorder ISO RGD:1350088 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19404256 12235025 CDH10 cadherin 10 gene DOID:1324 lung cancer ISO RGD:1350088 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12235025 CDH10 cadherin 10 gene DOID:630 genetic disease ISO RGD:1350088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12235025 CDH10 cadherin 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12235046 N4BP2L1 NEDD4 binding protein 2 like 1 gene DOID:630 genetic disease ISO RGD:1604555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12235055 ADAM23 ADAM metallopeptidase domain 23 gene DOID:14557 primary pulmonary hypertension ISO RGD:1313949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12235055 ADAM23 ADAM metallopeptidase domain 23 gene DOID:630 genetic disease ISO RGD:1313949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12235055 ADAM23 ADAM metallopeptidase domain 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12235085 GTPBP6 GTP binding protein 6 (putative) gene DOID:12849 autistic disorder ISO RGD:1353569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12235120 CRACR2B calcium release activated channel regulator 2B gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12235120 CRACR2B calcium release activated channel regulator 2B gene DOID:0080773 delta beta-thalassemia ISO RGD:1603869 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12235120 CRACR2B calcium release activated channel regulator 2B gene DOID:0111969 immunodeficiency 39 ISO RGD:1603869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12235120 CRACR2B calcium release activated channel regulator 2B gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12235120 CRACR2B calcium release activated channel regulator 2B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12235120 CRACR2B calcium release activated channel regulator 2B gene DOID:630 genetic disease ISO RGD:1603869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12235120 CRACR2B calcium release activated channel regulator 2B gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1603869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12235144 TP53INP1 tumor protein p53 inducible nuclear protein 1 gene DOID:14221 abdominal obesity-metabolic syndrome 1 ISO RGD:1332277 D RGD:9068941 20220825 MouseDO OMIM:605552 12235144 TP53INP1 tumor protein p53 inducible nuclear protein 1 gene DOID:630 genetic disease ISO RGD:1349699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12235162 IFNLR1 interferon lambda receptor 1 gene DOID:630 genetic disease ISO RGD:1603554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12235162 IFNLR1 interferon lambda receptor 1 gene DOID:8893 psoriasis ISO RGD:1603554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953190 12235162 IFNLR1 interferon lambda receptor 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1603554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12235171 TPGS1 tubulin polyglutamylase complex subunit 1 gene DOID:630 genetic disease ISO RGD:1323455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:0050453 lissencephaly ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:18391202|PMID:24033266|PMID:25741868|PMID:26017485|PMID:26436109|PMID:28166811|PMID:28492532|PMID:31664448 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:0050453 lissencephaly ISO RGD:1348797 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:18391202|PMID:24033266|PMID:25741868|PMID:26017485|PMID:26436109|PMID:28492532|PMID:31664448 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:0050453 lissencephaly ISO RGD:1348797 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:18391202|PMID:24033266|PMID:25741868|PMID:26017485|PMID:26436109|PMID:28492532|PMID:28679693|PMID:30122538|PMID:31664448 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1348797 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction PMID:25741868|PMID:31389005 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:0112235 lissencephaly 4 ISO RGD:1348797 D RGD:7240710 20180130 OMIM 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:0112235 lissencephaly 4 ISO RGD:1348797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) PMID:18414213|PMID:21529751|PMID:21529752|PMID:24033266|PMID:25326635|PMID:25332407|PMID:25741868|PMID:26206584|PMID:26467025|PMID:28492532|PMID:30637988 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:1059 intellectual disability ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18414213|PMID:25326635|PMID:25741868|PMID:28492532 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:12849 autistic disorder ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16199547|PMID:16444274|PMID:17576681|PMID:18391202|PMID:20226094|PMID:21937134|PMID:22001912|PMID:23099432|PMID:23142374|PMID:24033266|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26436109|PMID:26467025|PMID:27146836|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:28074631|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30122538|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32238909|PMID:32368696|PMID:9536098 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348797 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16199547|PMID:16444274|PMID:17576681|PMID:18391202|PMID:20226094|PMID:21937134|PMID:22001912|PMID:23099432|PMID:23142374|PMID:24033266|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26436109|PMID:26467025|PMID:27146836|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:28074631|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30122538|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32238909|PMID:32368696|PMID:32600061|PMID:9536098 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:1826 epilepsy ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum PMID:16541094 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:3627 aortic aneurysm ISO RGD:1348797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm PMID:22001912|PMID:25741868|PMID:28492532 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:4080 tricuspid valve insufficiency ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tricuspid regurgitation PMID:25741868 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:520 aortic disease ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:24033266|PMID:25741868|PMID:28492532 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:5419 schizophrenia ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:630 genetic disease ISO RGD:1348797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25500235|PMID:25637381|PMID:25741868|PMID:28492532|PMID:9536098 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:65 connective tissue disease ISO RGD:1348797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:17576681|PMID:22001912|PMID:25500235|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:26188975|PMID:27153395|PMID:28492532|PMID:29543232|PMID:29907982|PMID:32238909|PMID:32368696|PMID:9536098 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:8445 intestinal volvulus ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:9000664 Familial Thoracic Aortic Aneurysm 4 ISO RGD:1348797 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:16199547|PMID:16444274|PMID:17576681|PMID:18391202|PMID:20226094|PMID:21698135|PMID:21937134|PMID:22001912|PMID:22318994|PMID:23099432|PMID:23142374|PMID:24033266|PMID:25407000|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26436109|PMID:26467025|PMID:27146836|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:27884122|PMID:28074631|PMID:28166811|PMID:28195393|PMID:28367076|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29179725|PMID:29441698|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29907982|PMID:30122538|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32238909|PMID:32368696|PMID:32600061|PMID:35535697|PMID:9536098 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:9000924 Gastrointestinal Motility Disorders ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal and colonic dysmotility PMID:18391202 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 ISO RGD:1348797 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 PMID:17576681|PMID:22001912|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29543232|PMID:29907982|PMID:32238909|PMID:9536098 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1348797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:25500235|PMID:25637381|PMID:25741868|PMID:28492532 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:9002767 Microhydranencephaly ISO RGD:1348797 D RGD:7240710 20180130 OMIM 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:9002767 Microhydranencephaly ISO RGD:1348797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydranencephaly and microcephaly PMID:10762554|PMID:18414213|PMID:22526350|PMID:25326635|PMID:25332407|PMID:25741868|PMID:28492532|PMID:30637988 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:9007096 Stroke ISO RGD:1348797 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28492532 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:1348797 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:24581741|PMID:26601923|PMID:28492532|PMID:30554721 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:25741868|PMID:28492532 12235184 NDE1 nudE neurodevelopment protein 1 gene DOID:9009175 Visceral Myopathy 2 ISO RGD:1348797 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: VISCERAL MYOPATHY 2 | ClinVar Annotator: match by term: Visceral myopathy 2 PMID:17576681|PMID:18391202|PMID:22001912|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29543232|PMID:29907982|PMID:31389005|PMID:32238909|PMID:9536098 12235209 ENHO energy homeostasis associated gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1603336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12235209 ENHO energy homeostasis associated gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1603336 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12235209 ENHO energy homeostasis associated gene DOID:0080942 anauxetic dysplasia ISO RGD:1603336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12235209 ENHO energy homeostasis associated gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1603336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12235209 ENHO energy homeostasis associated gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1603336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12235209 ENHO energy homeostasis associated gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1603336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12235209 ENHO energy homeostasis associated gene DOID:9562 primary ciliary dyskinesia ISO RGD:1603336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12235209 ENHO energy homeostasis associated gene DOID:9870 galactosemia ISO RGD:1603336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12235222 MIR132 microRNA mir-132 gene DOID:10652 Alzheimer's disease ISO RGD:1346883 D RGD:9068941 20230223 RGD RNA:decreased expression:brain PMID:23585551|REF_RGD_ID:7327146 12235222 MIR132 microRNA mir-132 gene DOID:11054 urinary bladder cancer ISO RGD:1346883 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 12235222 MIR132 microRNA mir-132 gene DOID:12858 Huntington's disease ISO RGD:1608339 D RGD:9068941 20200609 RGD down-regulated PMID:21035445|REF_RGD_ID:11041745 12235222 MIR132 microRNA mir-132 gene DOID:14330 Parkinson's disease ISO RGD:1346883 D RGD:9068941 20200609 RGD PMID:25553963|REF_RGD_ID:10450788 12235222 MIR132 microRNA mir-132 gene DOID:9000998 Brain Injuries ISO RGD:1346883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 12235222 MIR132 microRNA mir-132 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12235222 MIR132 microRNA mir-132 gene DOID:9008939 Breast Neoplasms ISO RGD:1346883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 12235222 MIR132 microRNA mir-132 gene DOID:9261 nasopharynx carcinoma treatment ISO RGD:1346883 D RGD:9068941 20220331 RGD PMID:29442000|REF_RGD_ID:151665745 12235228 MIR374B microRNA mir-374b gene DOID:12849 autistic disorder ISO RGD:2290238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12235228 MIR374B microRNA mir-374b gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:2290238 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22048643 12235298 ZDHHC3 zinc finger DHHC-type palmitoyltransferase 3 gene DOID:630 genetic disease ISO RGD:1319160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12235318 CCAR1 cell division cycle and apoptosis regulator 1 gene DOID:630 genetic disease ISO RGD:1345566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12235360 MYL11 myosin light chain 11 gene DOID:0050646 distal arthrogryposis ISO RGD:1603646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:32707087 12235360 MYL11 myosin light chain 11 gene DOID:0112190 distal arthrogryposis type 1C ISO RGD:1603646 D RGD:7240710 20201223 OMIM 12235360 MYL11 myosin light chain 11 gene DOID:0112190 distal arthrogryposis type 1C ISO RGD:1603646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1C PMID:25741868|PMID:32707087 12235360 MYL11 myosin light chain 11 gene DOID:630 genetic disease ISO RGD:1603646 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12235371 GIMAP2 GTPase, IMAP family member 2 gene DOID:2843 long QT syndrome ISO RGD:1346525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 12235371 GIMAP2 GTPase, IMAP family member 2 gene DOID:630 genetic disease ISO RGD:1346525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12235379 GOPC golgi associated PDZ and coiled-coil motif containing gene DOID:0060163 body dysmorphic disorder ISO RGD:1319891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 12235379 GOPC golgi associated PDZ and coiled-coil motif containing gene DOID:0060224 atrial fibrillation ISO RGD:1319891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12235379 GOPC golgi associated PDZ and coiled-coil motif containing gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1319891 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12235379 GOPC golgi associated PDZ and coiled-coil motif containing gene DOID:1059 intellectual disability ISO RGD:1319891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 12235379 GOPC golgi associated PDZ and coiled-coil motif containing gene DOID:10907 microcephaly ISO RGD:1319891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 12235379 GOPC golgi associated PDZ and coiled-coil motif containing gene DOID:12849 autistic disorder ISO RGD:1319891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 12235379 GOPC golgi associated PDZ and coiled-coil motif containing gene DOID:14227 azoospermia ISO RGD:1551284 D RGD:9068941 20220825 MouseDO OMIM:102530 | OMIM:108420 | OMIM:243060 | OMIM:258150 | OMIM:270960 | OMIM:309120 | OMIM:415000 | OMIM:606766 | OMIM:612997 | OMIM:613957 | OMIM:613958 | OMIM:614822 | OMIM:615081 | OMIM:615413 | OMIM:615841 | OMIM:615842 12235379 GOPC golgi associated PDZ and coiled-coil motif containing gene DOID:1826 epilepsy ISO RGD:1319891 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12235379 GOPC golgi associated PDZ and coiled-coil motif containing gene DOID:1909 melanoma ISO RGD:1319891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12235379 GOPC golgi associated PDZ and coiled-coil motif containing gene DOID:630 genetic disease ISO RGD:1319891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12235379 GOPC golgi associated PDZ and coiled-coil motif containing gene DOID:9000495 Tremor ISO RGD:1319891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12235393 HSH2D hematopoietic SH2 domain containing gene DOID:630 genetic disease ISO RGD:1313876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12235406 SOX17 SRY-box transcription factor 17 gene DOID:13608 biliary atresia ISO RGD:1313359 D RGD:9068941 20220825 MouseDO 12235406 SOX17 SRY-box transcription factor 17 gene DOID:4947 cholangiocarcinoma severity ISO RGD:1305371 D RGD:9068941 20200609 RGD PMID:20816680|REF_RGD_ID:4889598 12235406 SOX17 SRY-box transcription factor 17 gene DOID:630 genetic disease ISO RGD:1313358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12235406 SOX17 SRY-box transcription factor 17 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1313358 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension 12235406 SOX17 SRY-box transcription factor 17 gene DOID:9004716 Vesicoureteral Reflux 3 ISO RGD:1313358 D RGD:7240710 20180130 OMIM 12235406 SOX17 SRY-box transcription factor 17 gene DOID:9004716 Vesicoureteral Reflux 3 ISO RGD:1313358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vesicoureteral reflux 3 PMID:20960469|PMID:25741868|PMID:28492532|PMID:28566479 12235406 SOX17 SRY-box transcription factor 17 gene DOID:9007337 Teratogenesis ISO RGD:1313358 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24154490 12235406 SOX17 SRY-box transcription factor 17 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313358 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18413743 12235406 SOX17 SRY-box transcription factor 17 gene DOID:9620 vesicoureteral reflux ISO RGD:1313358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vesicoureteral reflux PMID:25741868 12235417 DRD5 dopamine receptor D5 gene DOID:0050840 cervical dystonia ISO RGD:731837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11459908 12235417 DRD5 dopamine receptor D5 gene DOID:0060040 pervasive developmental disorder ISO RGD:731837 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood PMID:21906006|REF_RGD_ID:5686422 12235417 DRD5 dopamine receptor D5 gene DOID:10652 Alzheimer's disease ISO RGD:731837 D RGD:9068941 20200609 RGD protein:increased expression:frontal cortex, neuron PMID:17182012|REF_RGD_ID:5686412 12235417 DRD5 dopamine receptor D5 gene DOID:10763 hypertension ISO RGD:10489 D RGD:9068941 20200609 RGD PMID:12486173|REF_RGD_ID:1580887 12235417 DRD5 dopamine receptor D5 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731837 D RGD:9068941 20230511 CTD CTD Direct Evidence: marker/mechanism PMID:14699430|PMID:14732906 12235417 DRD5 dopamine receptor D5 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731837 D RGD:9068941 20230511 RGD PMID:14699430|REF_RGD_ID:1358609 12235417 DRD5 dopamine receptor D5 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731837 D RGD:9068941 20230511 RGD DNA:repeat PMID:11032390|REF_RGD_ID:5686417 12235417 DRD5 dopamine receptor D5 gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:731837 D RGD:9068941 20200609 RGD PMID:15389755|REF_RGD_ID:5686411 12235417 DRD5 dopamine receptor D5 gene DOID:1094 attention deficit hyperactivity disorder susceptibility ISO RGD:731837 D RGD:7240710 20230505 OMIM 12235417 DRD5 dopamine receptor D5 gene DOID:12858 Huntington's disease ISO RGD:68472 D RGD:9068941 20200609 RGD PMID:12111832|REF_RGD_ID:5686414 12235417 DRD5 dopamine receptor D5 gene DOID:14330 Parkinson's disease ISO RGD:731837 D RGD:9068941 20200609 RGD protein:increased expression:blood, lymphocyte PMID:10495037|REF_RGD_ID:5686418 12235417 DRD5 dopamine receptor D5 gene DOID:1596 depressive disorder ISO RGD:731837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12235417 DRD5 dopamine receptor D5 gene DOID:2468 psychotic disorder ISO RGD:731837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12235417 DRD5 dopamine receptor D5 gene DOID:3312 bipolar disorder ISO RGD:731837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12235417 DRD5 dopamine receptor D5 gene DOID:529 blepharospasm ISO RGD:731837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11781417 12235417 DRD5 dopamine receptor D5 gene DOID:529 blepharospasm ISO RGD:731837 D RGD:9068941 20200609 RGD DNA:repeat PMID:11781417|REF_RGD_ID:734899 12235417 DRD5 dopamine receptor D5 gene DOID:630 genetic disease ISO RGD:731837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12235417 DRD5 dopamine receptor D5 gene DOID:9002584 Benign Essential Blepharospasm ISO RGD:731837 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 12235417 DRD5 dopamine receptor D5 gene DOID:9002584 Benign Essential Blepharospasm susceptibility ISO RGD:731837 D RGD:7240710 20230505 OMIM 12235422 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:0050477 Liddle syndrome ISO RGD:732847 D RGD:9068941 20200609 RGD DNA:nonsense mutation:exon:p.W574X (human) PMID:7550319|REF_RGD_ID:737754 12235422 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:0060041 autism spectrum disorder ISO RGD:732847 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12235422 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 ISO RGD:732847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive PMID:10391210|PMID:11231969|PMID:12473862|PMID:15198480|PMID:17460608|PMID:17634077|PMID:18424465|PMID:18507830|PMID:19462466|PMID:21956615|PMID:22995991|PMID:23149595|PMID:24033266|PMID:24882431|PMID:25741868|PMID:25900089|PMID:26135620|PMID:26467025|PMID:26537344|PMID:27884173|PMID:28492532|PMID:28497567|PMID:29229744|PMID:31655555|PMID:8640238 12235422 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 ISO RGD:732847 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 PMID:10391210|PMID:12473862|PMID:15198480|PMID:17460608|PMID:17560176|PMID:17634077|PMID:18424465|PMID:18507830|PMID:19017867|PMID:19462466|PMID:21956615|PMID:22995991|PMID:23149595|PMID:24033266|PMID:24882431|PMID:25741868|PMID:25900089|PMID:26135620|PMID:26467025|PMID:26537344|PMID:27884173|PMID:28492532|PMID:28497567|PMID:29229744|PMID:31655555 12235422 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:732847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 12235422 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:0080528 bronchiectasis 3 ISO RGD:732847 D RGD:7240710 20180130 OMIM 12235422 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:0080528 bronchiectasis 3 ISO RGD:732847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 3 PMID:10391210|PMID:12473862|PMID:17460608|PMID:17560176|PMID:17634077|PMID:18507830|PMID:19017867|PMID:19462466|PMID:21956615|PMID:22995991|PMID:24033266|PMID:24882431|PMID:25741868|PMID:25900089|PMID:26467025|PMID:26537344|PMID:27884173|PMID:28492532|PMID:28497567|PMID:29229744|PMID:31655555 12235422 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:10763 hypertension ISO RGD:732847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15198480 12235422 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:1485 cystic fibrosis ISO RGD:732847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16463024 12235422 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:2661 myoepithelioma ISO RGD:732847 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12235422 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:4479 pseudohypoaldosteronism ISO RGD:732847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8640238 12235422 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:4479 pseudohypoaldosteronism ISO RGD:732847 D RGD:9068941 20200609 RGD PHA type I,OMIM:264350;DNA:splice-site mutation:318-1G>A PMID:8640238|REF_RGD_ID:1624147 12235422 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:630 genetic disease ISO RGD:732847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12235422 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:9005031 Liddle Syndrome 1 ISO RGD:732847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Liddle syndrome 1 12235422 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:9006024 Hypotension ISO RGD:732847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11463765 12235422 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:9006708 PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE ISO RGD:732847 D RGD:7240710 20230308 OMIM 12235422 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:9006708 PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE ISO RGD:732847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB3, autosomal recessive PMID:11231969|PMID:8640238 12235422 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:9007420 Liddle Syndrome 2 ISO RGD:732847 D RGD:7240710 20190315 OMIM 12235422 SCNN1G sodium channel epithelial 1 subunit gamma gene DOID:9007420 Liddle Syndrome 2 ISO RGD:732847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Liddle syndrome 2 PMID:10391210|PMID:12473862|PMID:15198480|PMID:17460608|PMID:17634077|PMID:18507830|PMID:19462466|PMID:20376790|PMID:21956615|PMID:22995991|PMID:23149595|PMID:24033266|PMID:24882431|PMID:25741868|PMID:25900089|PMID:26135620|PMID:26467025|PMID:26537344|PMID:27884173|PMID:28492532|PMID:28497567|PMID:29229744|PMID:31655555|PMID:7550319 12235461 ZNF518A zinc finger protein 518A gene DOID:0060027 agammaglobulinemia 4 ISO RGD:1348764 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:10583958|PMID:17576681|PMID:24582315|PMID:25741868|PMID:28492532|PMID:9536098 12235461 ZNF518A zinc finger protein 518A gene DOID:630 genetic disease ISO RGD:1348764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12235481 ZFYVE19 zinc finger FYVE-type containing 19 gene DOID:2717 Bloom syndrome ISO RGD:1345411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12235481 ZFYVE19 zinc finger FYVE-type containing 19 gene DOID:630 genetic disease ISO RGD:1345411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12235481 ZFYVE19 zinc finger FYVE-type containing 19 gene DOID:9002381 Progressive Familial Intrahepatic Cholestasis 9 ISO RGD:1345411 D RGD:7240710 20220518 OMIM 12235481 ZFYVE19 zinc finger FYVE-type containing 19 gene DOID:9002381 Progressive Familial Intrahepatic Cholestasis 9 ISO RGD:1345411 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 9 PMID:32737136|PMID:33853651 12235481 ZFYVE19 zinc finger FYVE-type containing 19 gene DOID:9256 colorectal cancer ISO RGD:1345411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12235512 LAMA1 laminin subunit alpha 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1316264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12235512 LAMA1 laminin subunit alpha 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1316264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 12235512 LAMA1 laminin subunit alpha 1 gene DOID:0081292 traumatic brain injury ISO RGD:1316264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25668593 12235512 LAMA1 laminin subunit alpha 1 gene DOID:1059 intellectual disability ISO RGD:1316264 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12235512 LAMA1 laminin subunit alpha 1 gene DOID:5419 schizophrenia ISO RGD:1316264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 12235512 LAMA1 laminin subunit alpha 1 gene DOID:630 genetic disease ISO RGD:1316264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:25105227|PMID:25741868|PMID:26350204|PMID:26932191|PMID:28492532|PMID:32590954|PMID:34423300 12235512 LAMA1 laminin subunit alpha 1 gene DOID:9008073 PORETTI-BOLTSHAUSER SYNDROME ISO RGD:1316264 D RGD:7240710 20180130 OMIM 12235512 LAMA1 laminin subunit alpha 1 gene DOID:9008073 PORETTI-BOLTSHAUSER SYNDROME ISO RGD:1316264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Poretti-Boltshauser syndrome PMID:16199547|PMID:17576681|PMID:24033266|PMID:25105227|PMID:25741868|PMID:26932191|PMID:28492532|PMID:33101984|PMID:33767182|PMID:34423300|PMID:9536098 12235512 LAMA1 laminin subunit alpha 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 12235597 CCR4 C-C motif chemokine receptor 4 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1347259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 12235597 CCR4 C-C motif chemokine receptor 4 gene DOID:10608 celiac disease ISO RGD:1347259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 12235597 CCR4 C-C motif chemokine receptor 4 gene DOID:1793 pancreatic cancer ISO RGD:1347259 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:12761880|REF_RGD_ID:2317610 12235597 CCR4 C-C motif chemokine receptor 4 gene DOID:2316 brain ischemia ISO RGD:1347259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 12235597 CCR4 C-C motif chemokine receptor 4 gene DOID:2841 asthma ISO RGD:620594 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 12235597 CCR4 C-C motif chemokine receptor 4 gene DOID:3070 high grade glioma ISO RGD:1347259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17522861 12235597 CCR4 C-C motif chemokine receptor 4 gene DOID:3744 cervical squamous cell carcinoma severity ISO RGD:1347259 D RGD:9068941 20200807 RGD PMID:28086903|REF_RGD_ID:38455996 12235597 CCR4 C-C motif chemokine receptor 4 gene DOID:3770 pulmonary fibrosis ISO RGD:620594 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 12235597 CCR4 C-C motif chemokine receptor 4 gene DOID:630 genetic disease ISO RGD:1347259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12235597 CCR4 C-C motif chemokine receptor 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1347259 D RGD:9068941 20200609 RGD mRNA:increased expression:synovium: PMID:25430645|REF_RGD_ID:10054499 12235597 CCR4 C-C motif chemokine receptor 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1347259 D RGD:9068941 20200609 RGD protein:increased expression:synovial membrane: PMID:19942450|REF_RGD_ID:10054497 12235597 CCR4 C-C motif chemokine receptor 4 gene DOID:8398 osteoarthritis ISO RGD:1347259 D RGD:9068941 20200609 RGD protein:increased expression:synovial membrane: PMID:19942450|REF_RGD_ID:10054497 12235597 CCR4 C-C motif chemokine receptor 4 gene DOID:8541 Sezary's disease ISO RGD:1347259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 12235597 CCR4 C-C motif chemokine receptor 4 gene DOID:9007188 Liver Neoplasms ISO RGD:1347259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12235605 SLC22A2 solute carrier family 22 member 2 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1342518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 12235605 SLC22A2 solute carrier family 22 member 2 gene DOID:1074 kidney failure ISO RGD:61936 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney cortex PMID:21167265|REF_RGD_ID:7243878 12235605 SLC22A2 solute carrier family 22 member 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:61936 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:20814153|REF_RGD_ID:7243879 12235605 SLC22A2 solute carrier family 22 member 2 gene DOID:1852 intrahepatic cholestasis ISO RGD:61936 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:19002567|REF_RGD_ID:7243885 12235605 SLC22A2 solute carrier family 22 member 2 gene DOID:1920 hyperuricemia ISO RGD:61936 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:15748710|REF_RGD_ID:7243882 12235605 SLC22A2 solute carrier family 22 member 2 gene DOID:1920 hyperuricemia treatment ISO RGD:62229 D RGD:9068941 20200609 RGD PMID:21154198|PMID:21909718|REF_RGD_ID:7243180|REF_RGD_ID:7244192 12235605 SLC22A2 solute carrier family 22 member 2 gene DOID:3021 acute kidney failure ISO RGD:61936 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:18612803|REF_RGD_ID:7243880 12235605 SLC22A2 solute carrier family 22 member 2 gene DOID:3021 acute kidney failure susceptibility ISO RGD:1342518 D RGD:9068941 20200609 RGD DNA:SNP: :808G>T (rs316019) human PMID:19625999|REF_RGD_ID:7243884 12235605 SLC22A2 solute carrier family 22 member 2 gene DOID:3021 acute kidney failure treatment ISO RGD:61936 D RGD:9068941 20200609 RGD PMID:22414646|REF_RGD_ID:7243179 12235605 SLC22A2 solute carrier family 22 member 2 gene DOID:557 kidney disease ISO RGD:1342518 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22525860 12235605 SLC22A2 solute carrier family 22 member 2 gene DOID:630 genetic disease ISO RGD:1342518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12235605 SLC22A2 solute carrier family 22 member 2 gene DOID:783 end stage renal disease ISO RGD:61936 D RGD:9068941 20200609 RGD PMID:23280877|REF_RGD_ID:7243177 12235605 SLC22A2 solute carrier family 22 member 2 gene DOID:783 end stage renal disease ISO RGD:61936 D RGD:9068941 20200609 RGD protein:decreased expression:kidney, plasma membrane PMID:12110012|REF_RGD_ID:7243883 12235605 SLC22A2 solute carrier family 22 member 2 gene DOID:9000046 Poisoning ISO RGD:1342518 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22525860 12235605 SLC22A2 solute carrier family 22 member 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:62229 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:23228442|REF_RGD_ID:7243178 12235605 SLC22A2 solute carrier family 22 member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61936 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:19356064|REF_RGD_ID:2312728 12235605 SLC22A2 solute carrier family 22 member 2 gene DOID:9005930 Endotoxemia treatment ISO RGD:61936 D RGD:9068941 20200609 RGD PMID:18313662|REF_RGD_ID:7243881 12235605 SLC22A2 solute carrier family 22 member 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:61936 D RGD:9068941 20200609 RGD PMID:21835768|REF_RGD_ID:7243877 12235605 SLC22A2 solute carrier family 22 member 2 gene DOID:9970 obesity ISO RGD:1342518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27401566 12235618 IL4 interleukin 4 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23962110 12235618 IL4 interleukin 4 gene DOID:0050625 biliary tract benign neoplasm ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:18798553|REF_RGD_ID:2317263 12235618 IL4 interleukin 4 gene DOID:0050634 alopecia universalis ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20671941|REF_RGD_ID:7829773 12235618 IL4 interleukin 4 gene DOID:0050700 cardiomyopathy ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7578376 12235618 IL4 interleukin 4 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:736306 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:7963654|REF_RGD_ID:7829823 12235618 IL4 interleukin 4 gene DOID:0060180 colitis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24314293 12235618 IL4 interleukin 4 gene DOID:0060180 colitis treatment ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:9389741|REF_RGD_ID:8142400 12235618 IL4 interleukin 4 gene DOID:0060496 respiratory allergy ISO RGD:10796 D RGD:9068941 20200609 RGD associated with Pneumonia, Pneumocystis carinii PMID:21343358|REF_RGD_ID:5128506 12235618 IL4 interleukin 4 gene DOID:0060496 respiratory allergy ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18394133 12235618 IL4 interleukin 4 gene DOID:0060500 drug allergy ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15867870|PMID:20485159 12235618 IL4 interleukin 4 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 12235618 IL4 interleukin 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736306 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12235618 IL4 interleukin 4 gene DOID:0080600 COVID-19 severity ISO RGD:736306 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 12235618 IL4 interleukin 4 gene DOID:0080745 polymyositis ISO RGD:736306 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:19953283|REF_RGD_ID:7794747 12235618 IL4 interleukin 4 gene DOID:0080822 aspirin-induced respiratory disease susceptibility ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNPs:promoter,5'UTR,intron:multiple PMID:20921925|REF_RGD_ID:11528633 12235618 IL4 interleukin 4 gene DOID:1003 pelvic inflammatory disease treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24589604|REF_RGD_ID:10402794 12235618 IL4 interleukin 4 gene DOID:10113 trypanosomiasis treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24731531|REF_RGD_ID:10402804 12235618 IL4 interleukin 4 gene DOID:10223 dermatomyositis ISO RGD:736306 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:19953283|REF_RGD_ID:7794747 12235618 IL4 interleukin 4 gene DOID:10316 pneumoconiosis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21857939 12235618 IL4 interleukin 4 gene DOID:10459 common cold ISO RGD:10796 D RGD:9068941 20200609 RGD associated with Asthma;mRNA, protein:increased expression:alveolar macrophage, respiratory system fluid/secretion PMID:20644177|REF_RGD_ID:4140459 12235618 IL4 interleukin 4 gene DOID:10652 Alzheimer's disease ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter PMID:20213229|REF_RGD_ID:10402788 12235618 IL4 interleukin 4 gene DOID:10952 nephritis ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:7967345|REF_RGD_ID:5128564 12235618 IL4 interleukin 4 gene DOID:11168 anogenital venereal wart ISO RGD:736306 D RGD:9068941 20201105 RGD protein:increased expression:peripheral blood mononuclear cells (human) PMID:23754510|REF_RGD_ID:40400714 12235618 IL4 interleukin 4 gene DOID:11168 anogenital venereal wart treatment ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:16114559|REF_RGD_ID:7829774 12235618 IL4 interleukin 4 gene DOID:1184 nephrotic syndrome treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24812565|REF_RGD_ID:10402803 12235618 IL4 interleukin 4 gene DOID:1205 allergic disease ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16095146|PMID:21625544 12235618 IL4 interleukin 4 gene DOID:12236 primary biliary cholangitis treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:20442198|REF_RGD_ID:7829828 12235618 IL4 interleukin 4 gene DOID:12306 vitiligo ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22342018|REF_RGD_ID:8663475 12235618 IL4 interleukin 4 gene DOID:12361 Graves' disease ISO RGD:736306 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 12235618 IL4 interleukin 4 gene DOID:12849 autistic disorder ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16360218 12235618 IL4 interleukin 4 gene DOID:12894 Sjogren's syndrome ISO RGD:10796 D RGD:9068941 20220825 MouseDO OMIM:270150 12235618 IL4 interleukin 4 gene DOID:13001 carotid stenosis treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:20498142|REF_RGD_ID:7829829 12235618 IL4 interleukin 4 gene DOID:13241 Behcet's disease ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:-33T>C (human) PMID:21640045|REF_RGD_ID:5147902 12235618 IL4 interleukin 4 gene DOID:13375 temporal arteritis ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :rs2227284 (human) PMID:15570643|REF_RGD_ID:7829811 12235618 IL4 interleukin 4 gene DOID:13378 Kawasaki disease treatment ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:22367425|REF_RGD_ID:7829825 12235618 IL4 interleukin 4 gene DOID:13580 cholestasis ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:20031157|REF_RGD_ID:2317270 12235618 IL4 interleukin 4 gene DOID:1459 hypothyroidism treatment ISO RGD:2898 D RGD:9068941 20200903 RGD PMID:29896255|REF_RGD_ID:38549578 12235618 IL4 interleukin 4 gene DOID:1495 cystic echinococcosis treatment ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:25726962|REF_RGD_ID:14696685 12235618 IL4 interleukin 4 gene DOID:1532 pleural disease ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21357438 12235618 IL4 interleukin 4 gene DOID:1561 cognitive disorder treatment ISO RGD:2898 D RGD:9068941 20200609 RGD associated with Radiation Injuries, Experimental PMID:24713401|REF_RGD_ID:10402800 12235618 IL4 interleukin 4 gene DOID:1679 cystitis ISO RGD:2898 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:18848347|REF_RGD_ID:2317284 12235618 IL4 interleukin 4 gene DOID:1790 malignant mesothelioma ISO RGD:736306 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 12235618 IL4 interleukin 4 gene DOID:1793 pancreatic cancer ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:10404069|REF_RGD_ID:2317267 12235618 IL4 interleukin 4 gene DOID:1793 pancreatic cancer ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:12097255|REF_RGD_ID:2317265 12235618 IL4 interleukin 4 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:19957810|REF_RGD_ID:2317261 12235618 IL4 interleukin 4 gene DOID:1883 hepatitis C ISO RGD:736306 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:28368861|REF_RGD_ID:14696680 12235618 IL4 interleukin 4 gene DOID:1883 hepatitis C susceptibility ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-589C>T (human) PMID:28368861|REF_RGD_ID:14696680 12235618 IL4 interleukin 4 gene DOID:1926 Gaucher's disease ISO RGD:10796 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21223590|REF_RGD_ID:5128511 12235618 IL4 interleukin 4 gene DOID:2043 hepatitis B treatment ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2243250,rs2227284(human) PMID:28051794|REF_RGD_ID:14696676 12235618 IL4 interleukin 4 gene DOID:2048 autoimmune hepatitis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 12235618 IL4 interleukin 4 gene DOID:2048 autoimmune hepatitis ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:30034292|REF_RGD_ID:14696683 12235618 IL4 interleukin 4 gene DOID:2048 autoimmune hepatitis susceptibility ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-590C>T,-33T>C (human) PMID:26735262|REF_RGD_ID:14696677 12235618 IL4 interleukin 4 gene DOID:2048 autoimmune hepatitis treatment ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:30034292|REF_RGD_ID:14696683 12235618 IL4 interleukin 4 gene DOID:2377 multiple sclerosis onset ISO RGD:736306 D RGD:9068941 20200806 RGD DNA:repeat:intron 3:allele B1 (human) PMID:9184650|REF_RGD_ID:1358745 12235618 IL4 interleukin 4 gene DOID:2723 dermatitis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31330126 12235618 IL4 interleukin 4 gene DOID:2772 irritant dermatitis ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:19690449|REF_RGD_ID:2317271 12235618 IL4 interleukin 4 gene DOID:2773 contact dermatitis treatment ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:12188032|REF_RGD_ID:7829776 12235618 IL4 interleukin 4 gene DOID:2799 bronchiolitis obliterans ISO RGD:2898 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18557728|REF_RGD_ID:2317286 12235618 IL4 interleukin 4 gene DOID:2841 asthma ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:21375458|REF_RGD_ID:5128557 12235618 IL4 interleukin 4 gene DOID:2841 asthma ISO RGD:10796 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:21354484|REF_RGD_ID:5128502 12235618 IL4 interleukin 4 gene DOID:2841 asthma ISO RGD:2898 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, spleen PMID:21364926|REF_RGD_ID:5128500 12235618 IL4 interleukin 4 gene DOID:2841 asthma ISO RGD:2898 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:18211752|REF_RGD_ID:2317290 12235618 IL4 interleukin 4 gene DOID:2841 asthma ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18357729 12235618 IL4 interleukin 4 gene DOID:2841 asthma ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:21103062|REF_RGD_ID:4889866 12235618 IL4 interleukin 4 gene DOID:2841 asthma ISO RGD:736306 D RGD:9068941 20200609 RGD mRNA, protein:increase expression:leukocyte, serum PMID:24450480|REF_RGD_ID:10402791 12235618 IL4 interleukin 4 gene DOID:2841 asthma no_association ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNP: :589C>T (human) PMID:20524005|REF_RGD_ID:5128560 12235618 IL4 interleukin 4 gene DOID:2841 asthma treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24946644|REF_RGD_ID:10402799 12235618 IL4 interleukin 4 gene DOID:2957 pulmonary tuberculosis severity ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:20832364|REF_RGD_ID:5128550 12235618 IL4 interleukin 4 gene DOID:3042 allergic contact dermatitis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12484431|PMID:21804303 12235618 IL4 interleukin 4 gene DOID:3070 high grade glioma treatment ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:9973213|REF_RGD_ID:8142389 12235618 IL4 interleukin 4 gene DOID:3310 atopic dermatitis ISO RGD:10796 D RGD:9068941 20220825 MouseDO OMIM:603165 12235618 IL4 interleukin 4 gene DOID:3310 atopic dermatitis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11886533|PMID:12230500|PMID:18249437 12235618 IL4 interleukin 4 gene DOID:3310 atopic dermatitis ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-590C>T (human) PMID:9643293|REF_RGD_ID:7829786 12235618 IL4 interleukin 4 gene DOID:3310 atopic dermatitis ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8363440|REF_RGD_ID:7829795 12235618 IL4 interleukin 4 gene DOID:3525 middle cerebral artery infarction ISO RGD:2898 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:23028794|REF_RGD_ID:7204480 12235618 IL4 interleukin 4 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:17942922|REF_RGD_ID:2317264 12235618 IL4 interleukin 4 gene DOID:3770 pulmonary fibrosis ISO RGD:10796 D RGD:9068941 20200609 RGD associated with Alveolitis, Extrinsic Allergic;mRNA:increased expression:lung PMID:20861649|REF_RGD_ID:5128548 12235618 IL4 interleukin 4 gene DOID:3770 pulmonary fibrosis ISO RGD:10796 D RGD:9068941 20200609 RGD associated with Silicosis;protein:increased expression:respiratory system fluid/secretion PMID:20490462|REF_RGD_ID:5128555 12235618 IL4 interleukin 4 gene DOID:3770 pulmonary fibrosis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12574379|PMID:15322207 12235618 IL4 interleukin 4 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24269241|REF_RGD_ID:10402793 12235618 IL4 interleukin 4 gene DOID:417 autoimmune disease ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19077085|PMID:7871386|PMID:8898950 12235618 IL4 interleukin 4 gene DOID:418 systemic scleroderma ISO RGD:736306 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, splice variant:blood, mononuclear cell, plasma PMID:10473513|REF_RGD_ID:7829819 12235618 IL4 interleukin 4 gene DOID:418 systemic scleroderma ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9034992|REF_RGD_ID:5684371 12235618 IL4 interleukin 4 gene DOID:4481 allergic rhinitis treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24620662|REF_RGD_ID:11522769 12235618 IL4 interleukin 4 gene DOID:4481 allergic rhinitis treatment ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:14653048|PMID:8908280|PMID:9893928|REF_RGD_ID:7829796|REF_RGD_ID:7829802|REF_RGD_ID:7829827 12235618 IL4 interleukin 4 gene DOID:4483 rhinitis ISO RGD:10796 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:21208219|REF_RGD_ID:5128558 12235618 IL4 interleukin 4 gene DOID:4483 rhinitis ISO RGD:2898 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18826099|REF_RGD_ID:2317285 12235618 IL4 interleukin 4 gene DOID:4483 rhinitis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19672097 12235618 IL4 interleukin 4 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:17898087|PMID:9350645|REF_RGD_ID:2307059|REF_RGD_ID:2317673 12235618 IL4 interleukin 4 gene DOID:552 pneumonia ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12235618 IL4 interleukin 4 gene DOID:552 pneumonia ISO RGD:736306 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12235618 IL4 interleukin 4 gene DOID:630 genetic disease ISO RGD:736306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12235618 IL4 interleukin 4 gene DOID:6432 pulmonary hypertension ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:20889544|REF_RGD_ID:5128515 12235618 IL4 interleukin 4 gene DOID:7188 autoimmune thyroiditis ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:9892610|REF_RGD_ID:8142396 12235618 IL4 interleukin 4 gene DOID:8536 herpes zoster ISO RGD:736306 D RGD:9068941 20200609 RGD protein:decreased expression:: PMID:21954956|REF_RGD_ID:8663478 12235618 IL4 interleukin 4 gene DOID:8893 psoriasis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19169254 12235618 IL4 interleukin 4 gene DOID:8893 psoriasis ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15039646|REF_RGD_ID:7829812 12235618 IL4 interleukin 4 gene DOID:8893 psoriasis treatment ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:19729876|REF_RGD_ID:7829826 12235618 IL4 interleukin 4 gene DOID:8924 autoimmune thrombocytopenic purpura disease_progression ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:repeat:intron PMID:25051072|REF_RGD_ID:11041894 12235618 IL4 interleukin 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:20623539|REF_RGD_ID:5128562 12235618 IL4 interleukin 4 gene DOID:9000197 Edema treatment ISO RGD:736306 D RGD:9068941 20200609 RGD associated with Inflammation PMID:23972727|REF_RGD_ID:10402790 12235618 IL4 interleukin 4 gene DOID:9000784 Fibrosis ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:10486156|REF_RGD_ID:7829775 12235618 IL4 interleukin 4 gene DOID:9000784 Fibrosis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24286936 12235618 IL4 interleukin 4 gene DOID:9000998 Brain Injuries ISO RGD:2898 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:24519543|REF_RGD_ID:10402802 12235618 IL4 interleukin 4 gene DOID:9001011 Bovine Tuberculosis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17387165 12235618 IL4 interleukin 4 gene DOID:9001488 Human Influenza ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:21092162|REF_RGD_ID:5128546 12235618 IL4 interleukin 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:10796 D RGD:9068941 20201023 RGD protein:decreased expression:serum (mouse) PMID:28465467|REF_RGD_ID:39939037 12235618 IL4 interleukin 4 gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24986445|REF_RGD_ID:10402801 12235618 IL4 interleukin 4 gene DOID:9001981 Weight Loss ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24314293 12235618 IL4 interleukin 4 gene DOID:9002019 Granuloma treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24372369|REF_RGD_ID:10402806 12235618 IL4 interleukin 4 gene DOID:9002331 Knee Osteoarthritis ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:18182309|REF_RGD_ID:2317291 12235618 IL4 interleukin 4 gene DOID:9002331 Knee Osteoarthritis susceptibility ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:repeat:intron: (rs8179190) (human) PMID:24406619|REF_RGD_ID:10402787 12235618 IL4 interleukin 4 gene DOID:9002457 Experimental Arthritis ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:16869003|REF_RGD_ID:2317300 12235618 IL4 interleukin 4 gene DOID:9002457 Experimental Arthritis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10444273 12235618 IL4 interleukin 4 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:23140046|REF_RGD_ID:7193038 12235618 IL4 interleukin 4 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:23972727|REF_RGD_ID:10402790 12235618 IL4 interleukin 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:1383385|REF_RGD_ID:8142395 12235618 IL4 interleukin 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:18239607|REF_RGD_ID:7829778 12235618 IL4 interleukin 4 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12755381|PMID:20485159|PMID:22967010 12235618 IL4 interleukin 4 gene DOID:9002992 Nematode Infections ISO RGD:2898 D RGD:9068941 20200609 RGD mRNA:increased expression:spleen PMID:17570971|REF_RGD_ID:2317296 12235618 IL4 interleukin 4 gene DOID:9003157 Respiratory Sounds ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18410779 12235618 IL4 interleukin 4 gene DOID:9003507 Premature Birth ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26055944 12235618 IL4 interleukin 4 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:21171297|REF_RGD_ID:5128559 12235618 IL4 interleukin 4 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9237816|REF_RGD_ID:7829817 12235618 IL4 interleukin 4 gene DOID:9003657 Perennial Allergic Rhinitis treatment ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:15329007|REF_RGD_ID:7829804 12235618 IL4 interleukin 4 gene DOID:9004017 Chronic Hepatitis C ISO RGD:736306 D RGD:9068941 20200609 RGD associated with factor VIII deficiency;protein:increased expression:serum: PMID:23591975|REF_RGD_ID:14696686 12235618 IL4 interleukin 4 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-590C>T,-33T>C (human) PMID:22594992|REF_RGD_ID:14696678 12235618 IL4 interleukin 4 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:736306 D RGD:9068941 20200813 RGD PMID:25708446|REF_RGD_ID:38456002 12235618 IL4 interleukin 4 gene DOID:9004203 Chromosome Breakage ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27634759 12235618 IL4 interleukin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12235618 IL4 interleukin 4 gene DOID:9004484 Sepsis ISO RGD:736306 D RGD:9068941 20200806 RGD protein:increased expression:plasma PMID:25403265|REF_RGD_ID:38455982 12235618 IL4 interleukin 4 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24681349|REF_RGD_ID:10402798 12235618 IL4 interleukin 4 gene DOID:9005040 Hand Osteoarthritis no_association ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, 5' utr, intron:multiple PMID:20219689|REF_RGD_ID:10402786 12235618 IL4 interleukin 4 gene DOID:9005236 Drug Eruptions ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19351467 12235618 IL4 interleukin 4 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:25191525|REF_RGD_ID:10402795 12235618 IL4 interleukin 4 gene DOID:9005941 Rhinosinusitis treatment ISO RGD:736306 D RGD:9068941 20200609 RGD associated with Asthma PMID:12787306|REF_RGD_ID:7829803 12235618 IL4 interleukin 4 gene DOID:9006511 Xerostomia ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:16413168|REF_RGD_ID:7829771 12235618 IL4 interleukin 4 gene DOID:9006642 Experimental Autoimmune Uveoretinitis disease_progression ISO RGD:2898 D RGD:9068941 20200609 RGD mRNA:increased expression:uvea: PMID:7803357|REF_RGD_ID:8662946 12235618 IL4 interleukin 4 gene DOID:9006741 Acute Hepatitis ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:9367542|REF_RGD_ID:8142397 12235618 IL4 interleukin 4 gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24365768|REF_RGD_ID:10402797 12235618 IL4 interleukin 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736306 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12235618 IL4 interleukin 4 gene DOID:9007096 Stroke ISO RGD:736306 D RGD:9068941 20230225 RGD mRNA:increased expression:lymphocyte PMID:31465536|REF_RGD_ID:156430320 12235618 IL4 interleukin 4 gene DOID:9007278 Anaphylaxis ISO RGD:10796 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, intestine, spleen PMID:24468678|REF_RGD_ID:10402796 12235618 IL4 interleukin 4 gene DOID:9007278 Anaphylaxis ISO RGD:736306 D RGD:9068941 20200609 RGD associated with cystic echinococcosis; protein:increased expression:blood PMID:28095662|REF_RGD_ID:14696684 12235618 IL4 interleukin 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21094227|PMID:21735453|PMID:22107450 12235618 IL4 interleukin 4 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24876883|REF_RGD_ID:10402805 12235618 IL4 interleukin 4 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:736306 D RGD:9068941 20200609 RGD mRNA:increased expression:nose: PMID:7551298|REF_RGD_ID:8662960 12235618 IL4 interleukin 4 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9237816|REF_RGD_ID:7829817 12235618 IL4 interleukin 4 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-590C>T (human) PMID:26281177|REF_RGD_ID:14696675 12235618 IL4 interleukin 4 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:21331994|REF_RGD_ID:14696697 12235618 IL4 interleukin 4 gene DOID:9008366 Meningococcal Infections susceptibility ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-524C>T(human) PMID:20016407|REF_RGD_ID:14696700 12235618 IL4 interleukin 4 gene DOID:9008680 Respiratory Tract Infections ISO RGD:736306 D RGD:9068941 20200609 RGD associated with Asthma PMID:20573437|REF_RGD_ID:5128554 12235618 IL4 interleukin 4 gene DOID:9008821 Otitis Media with Effusion ISO RGD:2898 D RGD:9068941 20200609 RGD protein:increased expression:middle ear PMID:18975780|REF_RGD_ID:2317282 12235618 IL4 interleukin 4 gene DOID:9008885 Staphylococcal Infections susceptibility ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-542C>T (human) PMID:18422436|REF_RGD_ID:7829791 12235618 IL4 interleukin 4 gene DOID:9065 leishmaniasis ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:2145107|REF_RGD_ID:7829781 12235618 IL4 interleukin 4 gene DOID:9065 leishmaniasis treatment ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:2521244|REF_RGD_ID:7829820 12235618 IL4 interleukin 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18158872 12235618 IL4 interleukin 4 gene DOID:9111 cutaneous leishmaniasis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20102417 12235618 IL4 interleukin 4 gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:2898 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 12235618 IL4 interleukin 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:10796 D RGD:9068941 20220825 MouseDO OMIM:222100 12235618 IL4 interleukin 4 gene DOID:9790 toxocariasis treatment ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:26732352|REF_RGD_ID:11534298 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short ribs PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:29620724|PMID:7695699|PMID:8218237|PMID:9016532 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0050663 Bethlem myopathy ISO RGD:734037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, benign congenital PMID:17078022|PMID:17347327|PMID:19344236|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:28492532|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0050817 Stargardt disease ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:16752401|PMID:20513134|PMID:28492532 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0060221 Maffucci syndrome ISO RGD:734037 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Maffucci syndrome PMID:25741868 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0080006 bone development disease ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0080011 bone resorption disease ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27028940 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive PMID:25326635|PMID:25741868 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0080027 spondyloepimetaphyseal dysplasia ISO RGD:10373 D RGD:9068941 20220825 MouseDO 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type ISO RGD:734037 D RGD:7240710 20180130 OMIM 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SMED Strudwick type | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Strudwick type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia PMID:15895462|PMID:16088915|PMID:17078022|PMID:17347327|PMID:17509551|PMID:18272325|PMID:18276201|PMID:1905723|PMID:19344236|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26467025|PMID:26626311|PMID:28492532|PMID:30792901|PMID:34008892|PMID:7550321|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8423604|PMID:8486375|PMID:8702139|PMID:8723096|PMID:8893763|PMID:9016532 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0080044 hypochondrogenesis ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypochondrogenesis PMID:1429602|PMID:2572591|PMID:3195588 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0080045 Kniest dysplasia ISO RGD:734037 D RGD:7240710 20180130 OMIM 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0080045 Kniest dysplasia ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kniest dysplasia PMID:10406661|PMID:12995812|PMID:17078022|PMID:17347327|PMID:17576681|PMID:18272325|PMID:18276201|PMID:19344236|PMID:22791362|PMID:23188137|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26467025|PMID:28492532|PMID:29620724|PMID:29758562|PMID:30408610|PMID:4014370|PMID:4214536|PMID:7695699|PMID:7700721|PMID:7849719|PMID:7874117|PMID:7977371|PMID:7981752|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532|PMID:9066888|PMID:9468540|PMID:9536098 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0080046 Stickler syndrome ISO RGD:734037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Stickler Syndrome, Dominant | ClinVar Annotator: match by term: Stickler syndrome PMID:24033266|PMID:25741868|PMID:26443184|PMID:28492532|PMID:30311386 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0080056 achondrogenesis type II ISO RGD:734037 D RGD:7240710 20180130 OMIM 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0080056 achondrogenesis type II ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Achondrogenesis type II | ClinVar Annotator: match by term: Chondrogenesis imperfecta PMID:10797431|PMID:10982970|PMID:11007540|PMID:12429249|PMID:12544472|PMID:12939326|PMID:15054848|PMID:15895462|PMID:16199547|PMID:16752401|PMID:17078022|PMID:17347327|PMID:17576681|PMID:17994563|PMID:18272325|PMID:18276201|PMID:19344236|PMID:20179744|PMID:20301479|PMID:21472893|PMID:21924244|PMID:22496037|PMID:22522174|PMID:23592912|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25735649|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26467025|PMID:26626311|PMID:26747767|PMID:27234559|PMID:27390512|PMID:28492532|PMID:28559085|PMID:29453956|PMID:29620724|PMID:30181686|PMID:31755234|PMID:32756486|PMID:34573377|PMID:7695699|PMID:7752132|PMID:7757081|PMID:7829510|PMID:7977371|PMID:8218237|PMID:8325895|PMID:8702139|PMID:8893763|PMID:9016532|PMID:9101290|PMID:9536098 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0080676 Stickler syndrome 1 ISO RGD:734037 D RGD:7240710 20180130 OMIM 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0080676 Stickler syndrome 1 ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthroophthalmopathy, hereditary progressive | ClinVar Annotator: match by term: Stickler syndrome type 1 PMID:10486316|PMID:10706362|PMID:10982970|PMID:11007540|PMID:12544472|PMID:12939326|PMID:14299791|PMID:1444917|PMID:15671297|PMID:15895462|PMID:16189708|PMID:16199547|PMID:16752401|PMID:1677770|PMID:17078022|PMID:17347327|PMID:17576681|PMID:17638425|PMID:17721977|PMID:17726487|PMID:18272325|PMID:18276201|PMID:1905723|PMID:19344236|PMID:19764028|PMID:20131279|PMID:20179744|PMID:20301479|PMID:20513134|PMID:22496037|PMID:22522174|PMID:22574936|PMID:22791362|PMID:24664531|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:25809783|PMID:26037341|PMID:26467025|PMID:26626311|PMID:26709265|PMID:26747767|PMID:27183340|PMID:27234559|PMID:27390512|PMID:27408751|PMID:2803268|PMID:28492532|PMID:29095814|PMID:29453956|PMID:30181686|PMID:30311386|PMID:31736238|PMID:31872526|PMID:32071555|PMID:32510848|PMID:32756486|PMID:34008892|PMID:35052477|PMID:7487609|PMID:7695699|PMID:7849719|PMID:7977371|PMID:8218237|PMID:8244341|PMID:8406454|PMID:8423604|PMID:8434604|PMID:8702139|PMID:8737653|PMID:8893763|PMID:9016532|PMID:9536098 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant PMID:25741868 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness ISO RGD:734037 D RGD:7240710 20180130 OMIM 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, with myopia and conductive deafness | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia, Beighton type PMID:17078022|PMID:17347327|PMID:18272325|PMID:18276201|PMID:19344236|PMID:22496037|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26467025|PMID:27390512|PMID:28018693|PMID:28492532|PMID:28983407|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532|PMID:9800905 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0111508 Torrance type platyspondylic dysplasia ISO RGD:734037 D RGD:7240710 20180130 OMIM 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0111508 Torrance type platyspondylic dysplasia ISO RGD:734037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Platyspondylic dysplasia, Torrance type | ClinVar Annotator: match by term: Thanatophoric dysplasia torrance variant PMID:14729840|PMID:15266623|PMID:17078022|PMID:17347327|PMID:17726487|PMID:18272325|PMID:18276201|PMID:19344236|PMID:21442341|PMID:22791362|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26443184|PMID:26467025|PMID:28492532|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0112195 spondyloperipheral dysplasia ISO RGD:734037 D RGD:7240710 20180130 OMIM 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0112195 spondyloperipheral dysplasia ISO RGD:734037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spondyloperipheral dysplasia | ClinVar Annotator: match by term: Spondyloperipheral dysplasia with short ulna | ClinVar Annotator: match by term: Spondyloperipheral dysplasia-short ulna syndrome PMID:11746045|PMID:14729840|PMID:15266623|PMID:15316962|PMID:15895462|PMID:17078022|PMID:17347327|PMID:17509551|PMID:17726487|PMID:18272325|PMID:18276201|PMID:1905723|PMID:19344236|PMID:21472893|PMID:21924244|PMID:23079993|PMID:24033266|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25735649|PMID:25741868|PMID:25741869|PMID:25900302|PMID:26037341|PMID:26467025|PMID:26626311|PMID:28492532|PMID:34008892|PMID:7550321|PMID:7695699|PMID:7752132|PMID:7977371|PMID:8218237|PMID:8325895|PMID:8423604|PMID:8702139|PMID:8723097|PMID:8893763|PMID:9016532|PMID:9101290 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0112281 spondyloepiphyseal dysplasia Stanescu type ISO RGD:734037 D RGD:7240710 20180130 OMIM 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0112281 spondyloepiphyseal dysplasia Stanescu type ISO RGD:734037 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: SED, STANESCU TYPE | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, Stanescu type | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, stanescu type PMID:17078022|PMID:17347327|PMID:18272325|PMID:18276201|PMID:19344236|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26183434|PMID:26420734|PMID:26467025|PMID:28492532|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0112295 spondylometaphyseal dysplasia ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia PMID:25741868|PMID:28492532 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:0112297 spondylometaphyseal dysplasia corner fracture type ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type PMID:17078022|PMID:17163530|PMID:17347327|PMID:18272325|PMID:18276201|PMID:19344236|PMID:22791362|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26402641|PMID:26443184|PMID:26467025|PMID:26626311|PMID:27888646|PMID:28492532|PMID:32200603|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:10003 sensorineural hearing loss ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16189708 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:1059 intellectual disability ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:1123 spondyloarthropathy ISO RGD:734037 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.G274S(human) PMID:7866404|REF_RGD_ID:12108857 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:11830 myopia ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopia PMID:22496037|PMID:25741868|PMID:27390512|PMID:28018693|PMID:28492532|PMID:28983407|PMID:9800905 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:11830 myopia susceptibility ISO RGD:734037 D RGD:9068941 20200609 RGD associated with Stickler Syndrome, Type 1; DNA:mutations: exons: PMID:18276201|REF_RGD_ID:12436723 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:1222 cartilage disease ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27028940 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:14323 Marfan syndrome ISO RGD:734037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:14415 Legg-Calve-Perthes disease ISO RGD:734037 D RGD:7240710 20180130 OMIM 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:14415 Legg-Calve-Perthes disease ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coxa plana | ClinVar Annotator: match by term: Legg-Calve-Perthes disease | ClinVar Annotator: match by term: Osteochondritis deformans PMID:15930420|PMID:17078022|PMID:17347327|PMID:17394019|PMID:18272325|PMID:18276201|PMID:19344236|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:25809783|PMID:26037341|PMID:26467025|PMID:28492532|PMID:29750297|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:1459 hypothyroidism treatment ISO RGD:2375 D RGD:9068941 20200609 RGD PMID:17310101|REF_RGD_ID:8661259 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:734037 D RGD:7240710 20180130 OMIM 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, congenital type PMID:10678662|PMID:11746045|PMID:15643621|PMID:15895462|PMID:17078022|PMID:17347327|PMID:18272325|PMID:18276201|PMID:1905723|PMID:19344236|PMID:20179744|PMID:20513134|PMID:21472893|PMID:21924244|PMID:2339128|PMID:24033266|PMID:2543071|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25735649|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26380986|PMID:26467025|PMID:26626311|PMID:26985960|PMID:27234559|PMID:28492532|PMID:31755234|PMID:32860008|PMID:34008892|PMID:35052477|PMID:7695699|PMID:7752132|PMID:7977371|PMID:8218237|PMID:8325895|PMID:8423604|PMID:8702139|PMID:8893763|PMID:9016532|PMID:9101290 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:1682 congenital heart disease ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:12544472|PMID:20179744|PMID:22496037|PMID:25741868|PMID:26747767|PMID:28492532 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:1909 melanoma ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:2256 osteochondrodysplasia ISO RGD:10373 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.G1170S(mouse) PMID:24475193|REF_RGD_ID:11667103 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:2256 osteochondrodysplasia ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8486375 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:2256 osteochondrodysplasia ISO RGD:734037 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R519C(human) PMID:15476249|REF_RGD_ID:11667106 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:2703 synovitis ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194622 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:3371 chondrosarcoma ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770606 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:3371 chondrosarcoma ISO RGD:734037 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:23770606|REF_RGD_ID:8657387 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:5327 retinal detachment ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal detachment 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:5614 eye disease ISO RGD:734037 D RGD:9068941 20200609 RGD associated with Toxoplasmosis, Congenital;DNA:snps:multiple (human) PMID:19430638|REF_RGD_ID:8657386 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:630 genetic disease ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10353778|PMID:10745044|PMID:12848929|PMID:12925722|PMID:15895462|PMID:17078022|PMID:17509551|PMID:19344236|PMID:1971141|PMID:20179744|PMID:20513134|PMID:22791362|PMID:23079993|PMID:24736929|PMID:25604898|PMID:25741868|PMID:25823796|PMID:25900302|PMID:26250472|PMID:26345137|PMID:26358419|PMID:26626311|PMID:28095098|PMID:28492532|PMID:28738883|PMID:30170566|PMID:31758797|PMID:7550321|PMID:7695699|PMID:7741714|PMID:8218237|PMID:8486375|PMID:9016532|PMID:9724608 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:65 connective tissue disease ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:12205109|PMID:12544472|PMID:15895462|PMID:17078022|PMID:18272325|PMID:18276201|PMID:1905723|PMID:19344236|PMID:20179744|PMID:22496037|PMID:25504618|PMID:25604898|PMID:25741868|PMID:26467025|PMID:26626311|PMID:26747767|PMID:27183340|PMID:27234559|PMID:28492532|PMID:34008892|PMID:7695699|PMID:8218237|PMID:8423604|PMID:9016532 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:674 cleft palate ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15562585 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:674 cleft palate susceptibility ISO RGD:734037 D RGD:9068941 20200609 RGD DNA:SNP,haplotype:intron:rs1793949(human) PMID:20672350|REF_RGD_ID:12436724 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:7148 rheumatoid arthritis ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27028940|PMID:29935983 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:83 cataract ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8317498 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:8398 osteoarthritis ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16189708|PMID:9061443 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:8398 osteoarthritis onset ISO RGD:734037 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R75C (human) PMID:16755660|REF_RGD_ID:8657384 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:8398 osteoarthritis treatment ISO RGD:2375 D RGD:9068941 20200609 RGD PMID:19216861|REF_RGD_ID:8661226 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:848 arthritis ISO RGD:734037 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:17299831|PMID:24144632|PMID:26640276|PMID:36121554 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:8501 fundus dystrophy ISO RGD:734037 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10706362|PMID:11007540|PMID:15895462|PMID:16199547|PMID:16752401|PMID:20179744|PMID:20513134|PMID:22496037|PMID:22522174|PMID:25741868|PMID:26747767|PMID:27234559|PMID:27390512|PMID:27408751|PMID:28492532|PMID:29453956|PMID:30181686|PMID:31736238 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:8886 chorioretinitis ISO RGD:734037 D RGD:9068941 20200609 RGD associated with Toxoplasmosis, Congenital;DNA:snp:intron:IVS2-218 (rs1793958) (human) PMID:18523590|REF_RGD_ID:8657355 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:90 degenerative disc disease ISO RGD:2375 D RGD:9068941 20200609 RGD PMID:24285589|REF_RGD_ID:11570539 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:90 degenerative disc disease ISO RGD:2375 D RGD:9068941 20200609 RGD mRNA:decreased expression:intervertebral disc (rat) PMID:20948465|REF_RGD_ID:8661231 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:90 degenerative disc disease treatment ISO RGD:2375 D RGD:9068941 20200609 RGD associated with Renal Insufficiency PMID:19063844|REF_RGD_ID:10043178 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9000197 Edema ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194622|PMID:27028940|PMID:29908986|PMID:29935983 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9001210 Osteoarthritis with Mild Chondrodysplasia ISO RGD:734037 D RGD:7240710 20180130 OMIM 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9001210 Osteoarthritis with Mild Chondrodysplasia ISO RGD:734037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Namaqualand hip dysplasia | ClinVar Annotator: match by term: Osteoarthritis with mild chondrodysplasia PMID:10372559|PMID:15895462|PMID:16155195|PMID:17078022|PMID:17347327|PMID:18272325|PMID:18276201|PMID:1905723|PMID:19344236|PMID:1975693|PMID:1985108|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26443184|PMID:26467025|PMID:26626311|PMID:28492532|PMID:34008892|PMID:7695699|PMID:7757086|PMID:7977371|PMID:8218237|PMID:8423604|PMID:8507190|PMID:8702139|PMID:8893763|PMID:9016532|PMID:9711874 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:734037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:17078022|PMID:17347327|PMID:19344236|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:28492532|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9001679 Collagenopathy, Type 2 Alpha 1 ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cartilage collagen PMID:15895462|PMID:17078022|PMID:17163530|PMID:17347327|PMID:19344236|PMID:20179744|PMID:20301479|PMID:22791362|PMID:25741868|PMID:26402641|PMID:26443184|PMID:27234559|PMID:27888646|PMID:28492532|PMID:32200603|PMID:7695699|PMID:8218237|PMID:9016532 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9001680 SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS ISO RGD:734037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans PMID:25741868|PMID:28492532 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9001981 Weight Loss ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26070417|PMID:29908986 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9002189 High Myopia severity ISO RGD:734037 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:19387081|REF_RGD_ID:8657342 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9002221 Hyperplasia ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25481498 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9002231 Fetal Growth Retardation ISO RGD:2375 D RGD:9068941 20200609 RGD mRNA:decreased expression:distal epiphyseal plate of femur (rat) PMID:22995397|REF_RGD_ID:8661261 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9002457 Experimental Arthritis ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16200597|PMID:21188452|PMID:23326410|PMID:24709313|PMID:25194622|PMID:25481498|PMID:26070417|PMID:29908986|PMID:29935983 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9003049 Femur Head Necrosis ISO RGD:734037 D RGD:7240710 20180130 OMIM 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9003049 Femur Head Necrosis ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary | ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary, 1 PMID:15930420|PMID:17078022|PMID:17347327|PMID:17394019|PMID:18272325|PMID:18276201|PMID:19344236|PMID:21671384|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:25809783|PMID:26037341|PMID:26467025|PMID:28492532|PMID:29750297|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9003576 Prognathism susceptibility ISO RGD:734037 D RGD:9068941 20200609 RGD DNA:SNP: : rs1793953(human) PMID:24386886|REF_RGD_ID:11667107 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9003716 Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia ISO RGD:734037 D RGD:7240710 20210414 OMIM 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9003716 Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia ISO RGD:734037 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Vitreoretinopathy with phalangeal epiphyseal dysplasia PMID:12205109|PMID:17078022|PMID:17347327|PMID:18272325|PMID:18276201|PMID:19344236|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26467025|PMID:28492532|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9003722 Bronchial Fistula treatment ISO RGD:2375 D RGD:9068941 20200609 RGD PMID:24647564|REF_RGD_ID:8661658 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9004538 Hearing Loss ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:26626311|PMID:28492532|PMID:30311386 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9005372 Inflammation ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24144632|PMID:27028940 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9005817 Czech Dysplasia, Metatarsal Type ISO RGD:734037 D RGD:7240710 20180130 OMIM 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9005817 Czech Dysplasia, Metatarsal Type ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Czech dysplasia, metatarsal type | ClinVar Annotator: match by term: Pseudorheumatoid dysplasia progressive, with hypoplastic toes | ClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS PMID:17078022|PMID:17347327|PMID:17726487|PMID:18272325|PMID:18276201|PMID:19344236|PMID:19764028|PMID:22791362|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:25967556|PMID:26037341|PMID:26467025|PMID:26626311|PMID:28492532|PMID:32071555|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8244341|PMID:8702139|PMID:8893763|PMID:9016532 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9005830 Hyaloideoretinal Degeneration of Wagner ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11812423 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9005830 Hyaloideoretinal Degeneration of Wagner ISO RGD:734037 D RGD:9068941 20200609 RGD DNA:frameshift mutation:exon:p.C57X (human) PMID:11812423|REF_RGD_ID:8657385 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9005830 Hyaloideoretinal Degeneration of Wagner ISO RGD:734037 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.G67D (human) PMID:8317498|REF_RGD_ID:8657389 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9006205 Animal Disease Models ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17299831 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9006763 Stickler Syndrome, Type I, Nonsyndromic Ocular ISO RGD:734037 D RGD:7240710 20180130 OMIM 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9006763 Stickler Syndrome, Type I, Nonsyndromic Ocular ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: STICKLER SYNDROME, ATYPICAL | ClinVar Annotator: match by term: Stickler syndrome, type I, nonsyndromic ocular PMID:11007540|PMID:11410667|PMID:15671297|PMID:15895462|PMID:16752401|PMID:17078022|PMID:17347327|PMID:17721977|PMID:18272325|PMID:18276201|PMID:19344236|PMID:20179744|PMID:20301479|PMID:20513134|PMID:22496037|PMID:22522174|PMID:22574936|PMID:22791362|PMID:25060605|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26358419|PMID:26443184|PMID:26467025|PMID:26747767|PMID:27234559|PMID:27390512|PMID:27408751|PMID:28492532|PMID:29453956|PMID:30181686|PMID:7695699|PMID:7849719|PMID:7977371|PMID:8218237|PMID:8317498|PMID:8702139|PMID:8893763|PMID:9016532 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9006976 Erythema ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194622|PMID:27028940 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9007109 Rhegmatogenous Retinal Detachment, Autosomal Dominant ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant rhegmatogenous retinal detachment PMID:10982970|PMID:12544472|PMID:12939326|PMID:15671297|PMID:17078022|PMID:19344236|PMID:20179744|PMID:20301479|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9007661 Dwarfism ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9007706 MASS Syndrome ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MASS syndrome PMID:25741868|PMID:28492532 12235626 COL2A1 collagen type II alpha 1 chain gene DOID:9008731 Craniofacial Abnormalities ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15562585|PMID:9061443 12235693 CD44 CD44 molecule gene DOID:0050424 familial adenomatous polyposis ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28255344 12235693 CD44 CD44 molecule gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA, protein:splice variant, increased expression:large intestine PMID:16425351|REF_RGD_ID:2289356 12235693 CD44 CD44 molecule gene DOID:0060318 acute promyelocytic leukemia ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16208414|PMID:17349212 12235693 CD44 CD44 molecule gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:737036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:24886237 12235693 CD44 CD44 molecule gene DOID:10283 prostate cancer disease_progression ISO RGD:737036 D RGD:9068941 20211126 RGD DNA:hypermethylation:prostate gland PMID:17998819|REF_RGD_ID:2289346 12235693 CD44 CD44 molecule gene DOID:1059 intellectual disability ISO RGD:737036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12235693 CD44 CD44 molecule gene DOID:11054 urinary bladder cancer ISO RGD:737036 D RGD:9068941 20200609 RGD PMID:16321281|REF_RGD_ID:2289357 12235693 CD44 CD44 molecule gene DOID:12306 vitiligo ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 12235693 CD44 CD44 molecule gene DOID:13580 cholestasis ISO RGD:2307 D RGD:9068941 20200609 RGD protein:decreased expression:jejunum, ileum PMID:16804311|REF_RGD_ID:2289372 12235693 CD44 CD44 molecule gene DOID:1793 pancreatic cancer ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17446842 12235693 CD44 CD44 molecule gene DOID:2154 nephroblastoma ISO RGD:737036 D RGD:9068941 20200609 RGD PMID:12131349|REF_RGD_ID:2289361 12235693 CD44 CD44 molecule gene DOID:2377 multiple sclerosis ISO RGD:737036 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 12235693 CD44 CD44 molecule gene DOID:2671 transitional cell carcinoma ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA:splice variants:kidney pelvis, ureter PMID:10022688|REF_RGD_ID:2289363 12235693 CD44 CD44 molecule gene DOID:2773 contact dermatitis ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12235693 CD44 CD44 molecule gene DOID:2986 IgA glomerulonephritis ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 12235693 CD44 CD44 molecule gene DOID:3007 breast ductal carcinoma disease_progression ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA, protein:splice variant, increased expression:breast PMID:16425351|REF_RGD_ID:2289356 12235693 CD44 CD44 molecule gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:737036 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17059779|REF_RGD_ID:2289352 12235693 CD44 CD44 molecule gene DOID:3021 acute kidney failure ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23052191 12235693 CD44 CD44 molecule gene DOID:3457 invasive lobular carcinoma ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA, protein:splice variants, altered localization:breast PMID:11245336|REF_RGD_ID:2289362 12235693 CD44 CD44 molecule gene DOID:37 skin disease ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12235693 CD44 CD44 molecule gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA, protein:splice variant, increased expression:stomach PMID:16425351|REF_RGD_ID:2289356 12235693 CD44 CD44 molecule gene DOID:3883 Lynch syndrome ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28255344 12235693 CD44 CD44 molecule gene DOID:3910 lung adenocarcinoma ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA:splice variants:lung PMID:18091389|REF_RGD_ID:2289345 12235693 CD44 CD44 molecule gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:737036 D RGD:9068941 20210723 RGD mRNA:increased expression:lung (human) PMID:29537891|REF_RGD_ID:149735539 12235693 CD44 CD44 molecule gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:737036 D RGD:9068941 20200609 RGD PMID:12833185|REF_RGD_ID:2289360 12235693 CD44 CD44 molecule gene DOID:4450 renal cell carcinoma severity ISO RGD:737036 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17284111|REF_RGD_ID:2289351 12235693 CD44 CD44 molecule gene DOID:5138 leiomyomatosis ISO RGD:737036 D RGD:9068941 20200609 RGD PMID:15762960|REF_RGD_ID:2296043 12235693 CD44 CD44 molecule gene DOID:5154 borna disease ISO RGD:2307 D RGD:9068941 20200609 RGD PMID:16612977|REF_RGD_ID:2289373 12235693 CD44 CD44 molecule gene DOID:585 nephrolithiasis ISO RGD:737036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Calcium oxalate urolithiasis PMID:24886237 12235693 CD44 CD44 molecule gene DOID:630 genetic disease ISO RGD:737036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12235693 CD44 CD44 molecule gene DOID:769 neuroblastoma ISO RGD:737036 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 12235693 CD44 CD44 molecule gene DOID:9000081 Lymphatic Metastasis ISO RGD:737036 D RGD:9068941 20200609 RGD associated with Breast Neoplasms, Colorectal Neoplasms, Stomach Neoplasms;mRNA, protein:splice variant, increased expression:breast, large intestine, stomach PMID:16425351|REF_RGD_ID:2289356 12235693 CD44 CD44 molecule gene DOID:9000217 Stomach Neoplasms ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21471434 12235693 CD44 CD44 molecule gene DOID:9000918 Disease Progression ISO RGD:737036 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 12235693 CD44 CD44 molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23098472 12235693 CD44 CD44 molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:737036 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell;protein:increased expression:kidney PMID:18026989|REF_RGD_ID:2289347 12235693 CD44 CD44 molecule gene DOID:9002315 Kidney Calculi ISO RGD:2307 D RGD:9068941 20200609 RGD PMID:16850024|REF_RGD_ID:2289370 12235693 CD44 CD44 molecule gene DOID:9002457 Experimental Arthritis ISO RGD:2307 D RGD:9068941 20200609 RGD protein:increased expression:joint, macrophage, lymphocyte PMID:8639178|REF_RGD_ID:2289388 12235693 CD44 CD44 molecule gene DOID:9002762 Ovarian Neoplasms ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA:splice variants:ovary PMID:18091389|REF_RGD_ID:2289345 12235693 CD44 CD44 molecule gene DOID:9002955 Nerve Degeneration ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15191797 12235693 CD44 CD44 molecule gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737036 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:16998464|REF_RGD_ID:2289353 12235693 CD44 CD44 molecule gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA:splice variants:uterine cervix PMID:17464868|REF_RGD_ID:2289350 12235693 CD44 CD44 molecule gene DOID:9003936 Cardiomegaly ISO RGD:2307 D RGD:9068941 20200609 RGD protein:increased expression:coronary artery PMID:18196276|REF_RGD_ID:2289364 12235693 CD44 CD44 molecule gene DOID:9004009 Reperfusion Injury ISO RGD:2307 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:16786159|REF_RGD_ID:2289354 12235693 CD44 CD44 molecule gene DOID:9004009 Reperfusion Injury ISO RGD:2307 D RGD:9068941 20200609 RGD protein:increased expression:testis, macrophage PMID:16891795|REF_RGD_ID:2289369 12235693 CD44 CD44 molecule gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21283680 12235693 CD44 CD44 molecule gene DOID:9006618 Liver Metastasis ISO RGD:737036 D RGD:9068941 20200609 RGD associated with Breast Neoplasm;protein:increased expression:liver PMID:17991717|REF_RGD_ID:2289349 12235693 CD44 CD44 molecule gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA:splice variants:gastrointestinal system PMID:18091389|REF_RGD_ID:2289345 12235693 CD44 CD44 molecule gene DOID:9007096 Stroke ISO RGD:2307 D RGD:9068941 20200609 RGD PMID:16837837|REF_RGD_ID:2289371 12235693 CD44 CD44 molecule gene DOID:9007715 Endometrial Neoplasms ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA, protein:splice variant, increased expression:endometrium PMID:16308159|REF_RGD_ID:2289358 12235693 CD44 CD44 molecule gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:737036 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium PMID:14658589|REF_RGD_ID:2296044 12235693 CD44 CD44 molecule gene DOID:9007964 Arsenic Poisoning ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12235693 CD44 CD44 molecule gene DOID:9008939 Breast Neoplasms ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA:splice variants:breast PMID:18091389|REF_RGD_ID:2289345 12235693 CD44 CD44 molecule gene DOID:9119 acute myeloid leukemia ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23098472 12235693 CD44 CD44 molecule gene DOID:9498 pulmonary eosinophilia ISO RGD:10310 D RGD:9068941 20200609 RGD PMID:12750406|REF_RGD_ID:4145437 12235693 CD44 CD44 molecule gene DOID:9597 Krukenberg carcinoma ISO RGD:737036 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:16124061|REF_RGD_ID:2289359 12235737 KCNA2 potassium voltage-gated channel subfamily A member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:735518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 12235737 KCNA2 potassium voltage-gated channel subfamily A member 2 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:735518 D RGD:7240710 20180130 OMIM 12235737 KCNA2 potassium voltage-gated channel subfamily A member 2 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:735518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 32 | ClinVar Annotator: match by term: KCNA2-Related Disorder PMID:15694325|PMID:16002579|PMID:17634333|PMID:18414213|PMID:20696761|PMID:21044565|PMID:25477152|PMID:25741868|PMID:25751627|PMID:25950944|PMID:26467025|PMID:26599217|PMID:27062609|PMID:27117551|PMID:27457812|PMID:27543892|PMID:27733563|PMID:28019661|PMID:28032718|PMID:28204960|PMID:28492532|PMID:28806589|PMID:29050392|PMID:29100083|PMID:30182498|PMID:30283815|PMID:31170314|PMID:33232902|PMID:33624935|PMID:33802230|PMID:8663992|PMID:8663993 12235737 KCNA2 potassium voltage-gated channel subfamily A member 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:735518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:15694325|PMID:16002579|PMID:21044565|PMID:25477152|PMID:25741868|PMID:25751627|PMID:27733563|PMID:28492532|PMID:8663992|PMID:8663993 12235737 KCNA2 potassium voltage-gated channel subfamily A member 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:735518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12235737 KCNA2 potassium voltage-gated channel subfamily A member 2 gene DOID:1059 intellectual disability ISO RGD:735518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25751627 12235737 KCNA2 potassium voltage-gated channel subfamily A member 2 gene DOID:12849 autistic disorder ISO RGD:735518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12235737 KCNA2 potassium voltage-gated channel subfamily A member 2 gene DOID:1826 epilepsy ISO RGD:735518 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12235737 KCNA2 potassium voltage-gated channel subfamily A member 2 gene DOID:630 genetic disease ISO RGD:735518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15694325|PMID:16002579|PMID:21044565|PMID:25477152|PMID:25741868|PMID:25751627|PMID:26467025|PMID:26648591|PMID:27062609|PMID:27457812|PMID:27543892|PMID:27733563|PMID:28019661|PMID:28032718|PMID:28492532|PMID:28806589|PMID:29050392|PMID:30182498|PMID:33232902|PMID:33802230|PMID:8663992|PMID:8663993 12235737 KCNA2 potassium voltage-gated channel subfamily A member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:15694325|PMID:16002579|PMID:21044565|PMID:25477152|PMID:25741868|PMID:25751627|PMID:27733563|PMID:28492532|PMID:8663992|PMID:8663993 12235737 KCNA2 potassium voltage-gated channel subfamily A member 2 gene DOID:9005466 Language Development Disorders ISO RGD:735518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25751627 12235737 KCNA2 potassium voltage-gated channel subfamily A member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2950 D RGD:9068941 20200609 RGD PMID:17982915|REF_RGD_ID:7242761 12235737 KCNA2 potassium voltage-gated channel subfamily A member 2 gene DOID:9008086 Developmental Disabilities ISO RGD:735518 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12235737 KCNA2 potassium voltage-gated channel subfamily A member 2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:735518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15088113 12235750 UFL1 UFM1 specific ligase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12235750 UFL1 UFM1 specific ligase 1 gene DOID:630 genetic disease ISO RGD:1319587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12235773 KIF2C kinesin family member 2C gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:734428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12235773 KIF2C kinesin family member 2C gene DOID:0080600 COVID-19 ISO RGD:734428 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12235773 KIF2C kinesin family member 2C gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:734428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12235773 KIF2C kinesin family member 2C gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:734428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12235773 KIF2C kinesin family member 2C gene DOID:2773 contact dermatitis ISO RGD:734428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12235773 KIF2C kinesin family member 2C gene DOID:630 genetic disease ISO RGD:734428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12235773 KIF2C kinesin family member 2C gene DOID:684 hepatocellular carcinoma ISO RGD:734428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12235773 KIF2C kinesin family member 2C gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:734428 D RGD:9068941 20200609 RGD associated with colorectal cancer PMID:18506187|REF_RGD_ID:27372891 12235773 KIF2C kinesin family member 2C gene DOID:9256 colorectal cancer disease_progression ISO RGD:734428 D RGD:9068941 20200609 RGD PMID:18506187|REF_RGD_ID:27372891 12235809 NAF1 nuclear assembly factor 1 ribonucleoprotein gene DOID:1909 melanoma ISO RGD:1606990 D RGD:9068941 20220610 RGD DNA:SNP:cds:rs7675988 (human) PMID:25231748|REF_RGD_ID:152995261 12235809 NAF1 nuclear assembly factor 1 ribonucleoprotein gene DOID:3770 pulmonary fibrosis ISO RGD:1606990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:25741868 12235809 NAF1 nuclear assembly factor 1 ribonucleoprotein gene DOID:630 genetic disease ISO RGD:1606990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12235809 NAF1 nuclear assembly factor 1 ribonucleoprotein gene DOID:9005771 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 7 ISO RGD:1606990 D RGD:7240710 20230517 OMIM 12235820 DNAH17 dynein axonemal heavy chain 17 gene DOID:0111926 spermatogenic failure 39 ISO RGD:1345551 D RGD:7240710 20191030 OMIM 12235820 DNAH17 dynein axonemal heavy chain 17 gene DOID:0111926 spermatogenic failure 39 ISO RGD:1345551 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 39 PMID:25741868|PMID:31178125|PMID:31658987|PMID:33070343 12235820 DNAH17 dynein axonemal heavy chain 17 gene DOID:630 genetic disease ISO RGD:1345551 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12235820 DNAH17 dynein axonemal heavy chain 17 gene DOID:9007661 Dwarfism ISO RGD:1345551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12235905 SOD2 superoxide dismutase 2 gene DOID:0050424 familial adenomatous polyposis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12907644 12235905 SOD2 superoxide dismutase 2 gene DOID:0050464 Farber lipogranulomatosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10428046 12235905 SOD2 superoxide dismutase 2 gene DOID:0050700 cardiomyopathy ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:15890620|REF_RGD_ID:1581220 12235905 SOD2 superoxide dismutase 2 gene DOID:0050700 cardiomyopathy ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23536361 12235905 SOD2 superoxide dismutase 2 gene DOID:0050700 cardiomyopathy ISO RGD:730872 D RGD:9068941 20200609 RGD associated with hemochromatosis;DNA:polymorphism: :p.A16V (human) PMID:15591282|REF_RGD_ID:1580836 12235905 SOD2 superoxide dismutase 2 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 12235905 SOD2 superoxide dismutase 2 gene DOID:0050855 renal fibrosis ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:19458120|REF_RGD_ID:7175536 12235905 SOD2 superoxide dismutase 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332|PMID:21472284 12235905 SOD2 superoxide dismutase 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:11330 D RGD:9068941 20220825 MouseDO OMIM:105400 12235905 SOD2 superoxide dismutase 2 gene DOID:0060326 myelomeningocele ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22972774 12235905 SOD2 superoxide dismutase 2 gene DOID:0080132 Sengers syndrome ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23266196 12235905 SOD2 superoxide dismutase 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15094225|REF_RGD_ID:1581245 12235905 SOD2 superoxide dismutase 2 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:24597775|REF_RGD_ID:11352823 12235905 SOD2 superoxide dismutase 2 gene DOID:0080522 thyroid gland anaplastic carcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15887859 12235905 SOD2 superoxide dismutase 2 gene DOID:0080547 non-alcoholic steatohepatitis susceptibility ISO RGD:3732 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:20606728|REF_RGD_ID:21076282 12235905 SOD2 superoxide dismutase 2 gene DOID:0080547 non-alcoholic steatohepatitis susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:24649902|REF_RGD_ID:26923960 12235905 SOD2 superoxide dismutase 2 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:730872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 12235905 SOD2 superoxide dismutase 2 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:730872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 12235905 SOD2 superoxide dismutase 2 gene DOID:10003 sensorineural hearing loss ISO RGD:3732 D RGD:9068941 20200609 RGD protein:increased activity:cochlea: PMID:15109710|REF_RGD_ID:8547516 12235905 SOD2 superoxide dismutase 2 gene DOID:10534 stomach cancer ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:12469139|REF_RGD_ID:1581255 12235905 SOD2 superoxide dismutase 2 gene DOID:10584 retinitis pigmentosa ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:19293779|REF_RGD_ID:8158049 12235905 SOD2 superoxide dismutase 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16319717 12235905 SOD2 superoxide dismutase 2 gene DOID:10652 Alzheimer's disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19374891 12235905 SOD2 superoxide dismutase 2 gene DOID:10652 Alzheimer's disease ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:16369462|REF_RGD_ID:1579972 12235905 SOD2 superoxide dismutase 2 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs2842980(human) PMID:23638916|REF_RGD_ID:8158079 12235905 SOD2 superoxide dismutase 2 gene DOID:10763 hypertension ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:16716903|REF_RGD_ID:1580833 12235905 SOD2 superoxide dismutase 2 gene DOID:10763 hypertension ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11834524|PMID:21593737|PMID:25101153 12235905 SOD2 superoxide dismutase 2 gene DOID:10763 hypertension ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:16716903|REF_RGD_ID:1580833 12235905 SOD2 superoxide dismutase 2 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.V16A(rs4880)(human) PMID:18573360|REF_RGD_ID:8158102 12235905 SOD2 superoxide dismutase 2 gene DOID:11054 urinary bladder cancer ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14729580|PMID:18930813 12235905 SOD2 superoxide dismutase 2 gene DOID:11054 urinary bladder cancer ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:17974967|REF_RGD_ID:7175539 12235905 SOD2 superoxide dismutase 2 gene DOID:11088 asphyxia neonatorum ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963755 12235905 SOD2 superoxide dismutase 2 gene DOID:11335 sarcoidosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10673208 12235905 SOD2 superoxide dismutase 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:3732 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:25070658|REF_RGD_ID:11035305 12235905 SOD2 superoxide dismutase 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12235905 SOD2 superoxide dismutase 2 gene DOID:11476 osteoporosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12235905 SOD2 superoxide dismutase 2 gene DOID:11476 osteoporosis no_association ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr, exon, intron:multiple PMID:26336112|REF_RGD_ID:11035299 12235905 SOD2 superoxide dismutase 2 gene DOID:11476 osteoporosis susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:SNPs:intron, exon:g.31A>G, g.327C>T (p.A16V) (rs5746094, rs4880) (human) PMID:26336112|REF_RGD_ID:11035299 12235905 SOD2 superoxide dismutase 2 gene DOID:11713 diabetic angiopathy ISO RGD:730872 D RGD:7240710 20180130 OMIM 12235905 SOD2 superoxide dismutase 2 gene DOID:11713 diabetic angiopathy ISO RGD:730872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUPEROXIDE DISMUTASE 2 POLYMORPHISM PMID:10425186|PMID:12624725|PMID:15591282|PMID:16538174|PMID:17192491|PMID:8633092 12235905 SOD2 superoxide dismutase 2 gene DOID:11714 gestational diabetes ISO RGD:730872 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:23956348|PMID:30738174|PMID:34175429 12235905 SOD2 superoxide dismutase 2 gene DOID:1184 nephrotic syndrome ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9152291 12235905 SOD2 superoxide dismutase 2 gene DOID:1184 nephrotic syndrome ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:9152291|REF_RGD_ID:11035285 12235905 SOD2 superoxide dismutase 2 gene DOID:11963 esophagitis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11121210 12235905 SOD2 superoxide dismutase 2 gene DOID:1210 optic neuritis ISO RGD:11330 D RGD:9068941 20200609 RGD associated with Encephalomyelitis, Autoimmune, Experimental; PMID:17251466|REF_RGD_ID:8158052 12235905 SOD2 superoxide dismutase 2 gene DOID:1210 optic neuritis ISO RGD:730872 D RGD:9068941 20200609 RGD associated with Encephalomyelitis, Autoimmune, Experimental; PMID:17251466|REF_RGD_ID:8158052 12235905 SOD2 superoxide dismutase 2 gene DOID:12217 Lewy body dementia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16141792 12235905 SOD2 superoxide dismutase 2 gene DOID:12236 primary biliary cholangitis ISO RGD:730872 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:1682406|REF_RGD_ID:2317411 12235905 SOD2 superoxide dismutase 2 gene DOID:12306 vitiligo disease_progression ISO RGD:730872 D RGD:9068941 20200609 RGD DNA, mRNA, protein:SNPs, increased expression:cds:p.L84F (rs11575993), p.T58I (rs35289490), skin, leukocyte (human) PMID:24036105|REF_RGD_ID:8547522 12235905 SOD2 superoxide dismutase 2 gene DOID:12336 male infertility ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22206979 12235905 SOD2 superoxide dismutase 2 gene DOID:12556 acute kidney tubular necrosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19917352 12235905 SOD2 superoxide dismutase 2 gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11907800|PMID:14680979 12235905 SOD2 superoxide dismutase 2 gene DOID:12858 Huntington's disease susceptibility ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:11161607|REF_RGD_ID:13464352 12235905 SOD2 superoxide dismutase 2 gene DOID:1289 neurodegenerative disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10942521|PMID:12709579|PMID:15964507 12235905 SOD2 superoxide dismutase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:11677043|REF_RGD_ID:1581260 12235905 SOD2 superoxide dismutase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:11330 D RGD:9068941 20220825 MouseDO 12235905 SOD2 superoxide dismutase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16155095|PMID:21195081 12235905 SOD2 superoxide dismutase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:10425186|REF_RGD_ID:1580837 12235905 SOD2 superoxide dismutase 2 gene DOID:13141 uveitis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578012|PMID:21850155 12235905 SOD2 superoxide dismutase 2 gene DOID:1324 lung cancer ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15213518|REF_RGD_ID:1581247 12235905 SOD2 superoxide dismutase 2 gene DOID:13641 exfoliation syndrome ISO RGD:730872 D RGD:9068941 20200609 RGD associated with cataract;mRNA:increased expression:lens epithelium: PMID:23805041|REF_RGD_ID:8158048 12235905 SOD2 superoxide dismutase 2 gene DOID:13641 exfoliation syndrome ISO RGD:730872 D RGD:9068941 20200609 RGD associated with glaucoma,primary open angle; mRNA:increased expression: ciliary body, iris: PMID:18055805|REF_RGD_ID:7794853 12235905 SOD2 superoxide dismutase 2 gene DOID:1389 polyneuropathy ISO RGD:730872 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphism:exon:p.A-9V (human) PMID:12815947|REF_RGD_ID:1581254 12235905 SOD2 superoxide dismutase 2 gene DOID:13948 bladder neck obstruction ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:21060756|REF_RGD_ID:7175518 12235905 SOD2 superoxide dismutase 2 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19731237 12235905 SOD2 superoxide dismutase 2 gene DOID:14018 alcoholic liver cirrhosis susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:SNP: : 47T>C(human) PMID:26873981|REF_RGD_ID:11060603 12235905 SOD2 superoxide dismutase 2 gene DOID:14323 Marfan syndrome ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 12235905 SOD2 superoxide dismutase 2 gene DOID:14330 Parkinson's disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17188257|PMID:18353766|PMID:25279756 12235905 SOD2 superoxide dismutase 2 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:11161607|REF_RGD_ID:13464352 12235905 SOD2 superoxide dismutase 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:12946273|REF_RGD_ID:1581253 12235905 SOD2 superoxide dismutase 2 gene DOID:14566 disease of cellular proliferation ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:14679299|REF_RGD_ID:8158045 12235905 SOD2 superoxide dismutase 2 gene DOID:14566 disease of cellular proliferation ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11165872|PMID:11278550|PMID:11853549|PMID:12032862|PMID:17632733|PMID:19676086 12235905 SOD2 superoxide dismutase 2 gene DOID:1459 hypothyroidism treatment ISO RGD:3732 D RGD:9068941 20200903 RGD PMID:29896255|REF_RGD_ID:38549578 12235905 SOD2 superoxide dismutase 2 gene DOID:1470 major depressive disorder ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20471444 12235905 SOD2 superoxide dismutase 2 gene DOID:14749 methylmalonic acidemia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 12235905 SOD2 superoxide dismutase 2 gene DOID:1555 urticaria ISO RGD:730872 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:12780723|REF_RGD_ID:8547524 12235905 SOD2 superoxide dismutase 2 gene DOID:1612 breast cancer ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15883815|REF_RGD_ID:1581240 12235905 SOD2 superoxide dismutase 2 gene DOID:1679 cystitis ISO RGD:3732 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:26109091|REF_RGD_ID:11035303 12235905 SOD2 superoxide dismutase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12543247|PMID:15274141 12235905 SOD2 superoxide dismutase 2 gene DOID:178 vascular disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18596060 12235905 SOD2 superoxide dismutase 2 gene DOID:1790 malignant mesothelioma ISO RGD:730872 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:20617513 12235905 SOD2 superoxide dismutase 2 gene DOID:1793 pancreatic cancer ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17895890 12235905 SOD2 superoxide dismutase 2 gene DOID:1793 pancreatic cancer ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:12700280|REF_RGD_ID:1581235 12235905 SOD2 superoxide dismutase 2 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:730872 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:12499913|REF_RGD_ID:2317410 12235905 SOD2 superoxide dismutase 2 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.A16V (human) PMID:18205184|REF_RGD_ID:2317406 12235905 SOD2 superoxide dismutase 2 gene DOID:1824 status epilepticus ISO RGD:3732 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus PMID:25333348|REF_RGD_ID:11035304 12235905 SOD2 superoxide dismutase 2 gene DOID:1909 melanoma ISO RGD:730872 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:8541726|REF_RGD_ID:8547533 12235905 SOD2 superoxide dismutase 2 gene DOID:1936 atherosclerosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12677255|PMID:20720404 12235905 SOD2 superoxide dismutase 2 gene DOID:224 transient cerebral ischemia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11333366 12235905 SOD2 superoxide dismutase 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:30716316|REF_RGD_ID:27095883 12235905 SOD2 superoxide dismutase 2 gene DOID:2316 brain ischemia ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:10212301|REF_RGD_ID:1625695 12235905 SOD2 superoxide dismutase 2 gene DOID:2316 brain ischemia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15060315|PMID:17901229|PMID:19429140 12235905 SOD2 superoxide dismutase 2 gene DOID:2355 anemia ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:8790408|REF_RGD_ID:1581262 12235905 SOD2 superoxide dismutase 2 gene DOID:2355 anemia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20800516 12235905 SOD2 superoxide dismutase 2 gene DOID:2394 ovarian cancer ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:16179351|REF_RGD_ID:1581239 12235905 SOD2 superoxide dismutase 2 gene DOID:2615 papilloma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11507057 12235905 SOD2 superoxide dismutase 2 gene DOID:2738 pseudoxanthoma elasticum onset ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:c.47C>T(rs4880)(human) PMID:17693525|REF_RGD_ID:8547520 12235905 SOD2 superoxide dismutase 2 gene DOID:2741 bilirubin metabolic disorder treatment ISO RGD:730872 D RGD:9068941 20200609 RGD associated with acute lymphoblastic leukemia;DNA:SNP: :(rs4880)(human) PMID:27019981|REF_RGD_ID:11060605 12235905 SOD2 superoxide dismutase 2 gene DOID:2841 asthma ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15743779|REF_RGD_ID:1581231 12235905 SOD2 superoxide dismutase 2 gene DOID:299 adenocarcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12907644 12235905 SOD2 superoxide dismutase 2 gene DOID:3008 invasive ductal carcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23964924 12235905 SOD2 superoxide dismutase 2 gene DOID:305 carcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10853026|PMID:11053990 12235905 SOD2 superoxide dismutase 2 gene DOID:3082 interstitial lung disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10673208 12235905 SOD2 superoxide dismutase 2 gene DOID:326 ischemia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11328670|PMID:18227068 12235905 SOD2 superoxide dismutase 2 gene DOID:331 central nervous system disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10942521 12235905 SOD2 superoxide dismutase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8866423 12235905 SOD2 superoxide dismutase 2 gene DOID:3407 carotid artery disease ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:12732398|REF_RGD_ID:1580838 12235905 SOD2 superoxide dismutase 2 gene DOID:3429 inclusion body myositis ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:11837748|REF_RGD_ID:1581257 12235905 SOD2 superoxide dismutase 2 gene DOID:3491 Turner syndrome ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 12235905 SOD2 superoxide dismutase 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21940958 12235905 SOD2 superoxide dismutase 2 gene DOID:3613 Canavan disease ISO RGD:11330 D RGD:9068941 20220825 MouseDO OMIM:271900 12235905 SOD2 superoxide dismutase 2 gene DOID:3652 Leigh disease ISO RGD:11330 D RGD:9068941 20220825 MouseDO OMIM:220111 | OMIM:256000 12235905 SOD2 superoxide dismutase 2 gene DOID:3687 MELAS syndrome ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11907800 12235905 SOD2 superoxide dismutase 2 gene DOID:37 skin disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12235905 SOD2 superoxide dismutase 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18167182|PMID:21517111 12235905 SOD2 superoxide dismutase 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:3732 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:26534761|REF_RGD_ID:11035301 12235905 SOD2 superoxide dismutase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11731445|PMID:17094902 12235905 SOD2 superoxide dismutase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 12235905 SOD2 superoxide dismutase 2 gene DOID:417 autoimmune disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21850155 12235905 SOD2 superoxide dismutase 2 gene DOID:4448 macular degeneration ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:17898259|REF_RGD_ID:8158047 12235905 SOD2 superoxide dismutase 2 gene DOID:4450 renal cell carcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 12235905 SOD2 superoxide dismutase 2 gene DOID:4661 multiple chemical sensitivity ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23967348 12235905 SOD2 superoxide dismutase 2 gene DOID:4905 pancreatic carcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11328670 12235905 SOD2 superoxide dismutase 2 gene DOID:4914 esophagus adenocarcinoma ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:17785574|REF_RGD_ID:2317403 12235905 SOD2 superoxide dismutase 2 gene DOID:5082 liver cirrhosis ISO RGD:730872 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32659284 12235905 SOD2 superoxide dismutase 2 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.Ala16Val(rs1799725)(human) PMID:19731237|REF_RGD_ID:26923907 12235905 SOD2 superoxide dismutase 2 gene DOID:520 aortic disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 12235905 SOD2 superoxide dismutase 2 gene DOID:5295 intestinal disease treatment ISO RGD:3732 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic PMID:26301045|REF_RGD_ID:11035302 12235905 SOD2 superoxide dismutase 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20618948 12235905 SOD2 superoxide dismutase 2 gene DOID:557 kidney disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19917352|PMID:21571061 12235905 SOD2 superoxide dismutase 2 gene DOID:574 peripheral nervous system disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 12235905 SOD2 superoxide dismutase 2 gene DOID:583 hemolytic anemia ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:11304553|REF_RGD_ID:11035277 12235905 SOD2 superoxide dismutase 2 gene DOID:5844 myocardial infarction ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:14575298|PMID:9250167|REF_RGD_ID:1580839|REF_RGD_ID:1581148 12235905 SOD2 superoxide dismutase 2 gene DOID:5844 myocardial infarction ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12160945 12235905 SOD2 superoxide dismutase 2 gene DOID:5844 myocardial infarction ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:2313102|REF_RGD_ID:1580840 12235905 SOD2 superoxide dismutase 2 gene DOID:6000 congestive heart failure ISO RGD:11330 D RGD:9068941 20220825 MouseDO 12235905 SOD2 superoxide dismutase 2 gene DOID:6000 congestive heart failure ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16105639|PMID:16155095|PMID:20304815|PMID:21195081|PMID:21284947 12235905 SOD2 superoxide dismutase 2 gene DOID:6196 reactive arthritis ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:14687717|REF_RGD_ID:1581251 12235905 SOD2 superoxide dismutase 2 gene DOID:630 genetic disease ISO RGD:730872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12235905 SOD2 superoxide dismutase 2 gene DOID:6432 pulmonary hypertension ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20110409 12235905 SOD2 superoxide dismutase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15869407|REF_RGD_ID:1581242 12235905 SOD2 superoxide dismutase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730872 D RGD:9068941 20200609 RGD protein:increased expression:saliva PMID:31041878|REF_RGD_ID:27095881 12235905 SOD2 superoxide dismutase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730872 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:16767786|PMID:18760346|PMID:19731237|PMID:21472284|PMID:33010264 12235905 SOD2 superoxide dismutase 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:27221200|REF_RGD_ID:26923955 12235905 SOD2 superoxide dismutase 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD associated with liver cirrhosis; DNA:SNP:cds:p.Ala16Val(rs1799725)(human) PMID:19731237|REF_RGD_ID:26923907 12235905 SOD2 superoxide dismutase 2 gene DOID:700 mitochondrial metabolism disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9917329 12235905 SOD2 superoxide dismutase 2 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:12601034|REF_RGD_ID:8158104 12235905 SOD2 superoxide dismutase 2 gene DOID:705 Leber hereditary optic neuropathy treatment ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15293270|REF_RGD_ID:8158101 12235905 SOD2 superoxide dismutase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524|PMID:15292528|PMID:24313545 12235905 SOD2 superoxide dismutase 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:3732 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta PMID:17196988|REF_RGD_ID:1625699 12235905 SOD2 superoxide dismutase 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17196988 12235905 SOD2 superoxide dismutase 2 gene DOID:7998 hyperthyroidism ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19914224 12235905 SOD2 superoxide dismutase 2 gene DOID:8398 osteoarthritis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292528|PMID:18784066|PMID:22108257 12235905 SOD2 superoxide dismutase 2 gene DOID:841 extrinsic allergic alveolitis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10673208 12235905 SOD2 superoxide dismutase 2 gene DOID:850 lung disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8063194 12235905 SOD2 superoxide dismutase 2 gene DOID:8568 infectious mononucleosis ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:7964476|REF_RGD_ID:11035288 12235905 SOD2 superoxide dismutase 2 gene DOID:8646 substance-induced psychosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16807759 12235905 SOD2 superoxide dismutase 2 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 12235905 SOD2 superoxide dismutase 2 gene DOID:8691 mycosis fungoides ISO RGD:730872 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:20833513|REF_RGD_ID:8547521 12235905 SOD2 superoxide dismutase 2 gene DOID:8893 psoriasis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7744320 12235905 SOD2 superoxide dismutase 2 gene DOID:8893 psoriasis ISO RGD:730872 D RGD:9068941 20200609 RGD mRNA:increased expression:skin: PMID:7744320|REF_RGD_ID:8547526 12235905 SOD2 superoxide dismutase 2 gene DOID:8955 sideroblastic anemia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16910769|PMID:21326867 12235905 SOD2 superoxide dismutase 2 gene DOID:9000025 Central Nervous System Infections ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15337840|REF_RGD_ID:1581246 12235905 SOD2 superoxide dismutase 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:15454275|REF_RGD_ID:1581234 12235905 SOD2 superoxide dismutase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10853026|PMID:19381893|PMID:20618948 12235905 SOD2 superoxide dismutase 2 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:730872 D RGD:9068941 20200609 RGD associated with tongue neoplasms; PMID:20618948|REF_RGD_ID:8547519 12235905 SOD2 superoxide dismutase 2 gene DOID:9000111 Radiation Injuries ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16540396|PMID:21945096 12235905 SOD2 superoxide dismutase 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11053990|PMID:15986332 12235905 SOD2 superoxide dismutase 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10853026|PMID:14503839|PMID:19424620|PMID:25279216 12235905 SOD2 superoxide dismutase 2 gene DOID:9000307 Presbycusis ISO RGD:3732 D RGD:9068941 20200609 RGD protein:decreased expression,decreased activity:auditory cortex: PMID:24505357|REF_RGD_ID:8158103 12235905 SOD2 superoxide dismutase 2 gene DOID:9000582 Reticulocytosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20800516 12235905 SOD2 superoxide dismutase 2 gene DOID:9000784 Fibrosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19293248 12235905 SOD2 superoxide dismutase 2 gene DOID:9000815 Aortic Calcification ISO RGD:3732 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta PMID:25430697|REF_RGD_ID:11038653 12235905 SOD2 superoxide dismutase 2 gene DOID:9000837 Esophageal Stenosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11121210 12235905 SOD2 superoxide dismutase 2 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11121210|PMID:20726721 12235905 SOD2 superoxide dismutase 2 gene DOID:9000918 Disease Progression ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10673208|PMID:11283936|PMID:16081686|PMID:18930813|PMID:20618948|PMID:21749277|PMID:22547077 12235905 SOD2 superoxide dismutase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12538496|PMID:18930813|PMID:19487542|PMID:22580338 12235905 SOD2 superoxide dismutase 2 gene DOID:9000972 Fever ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11165872 12235905 SOD2 superoxide dismutase 2 gene DOID:9000998 Brain Injuries ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:16248885|REF_RGD_ID:1581214 12235905 SOD2 superoxide dismutase 2 gene DOID:9000998 Brain Injuries ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24462953 12235905 SOD2 superoxide dismutase 2 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:32236798|REF_RGD_ID:27095880 12235905 SOD2 superoxide dismutase 2 gene DOID:9001312 Tardive Dyskinesia ISO RGD:730872 D RGD:9068941 20200609 RGD associated with schizophrenia PMID:12960753|REF_RGD_ID:1581250 12235905 SOD2 superoxide dismutase 2 gene DOID:9001472 Nasal Polyps ISO RGD:730872 D RGD:9068941 20200609 RGD associated with Rhinosinusitis;mRNA,protein:decreased expression:nasal mucosa: PMID:23921602|REF_RGD_ID:8547534 12235905 SOD2 superoxide dismutase 2 gene DOID:9001542 Albuminuria ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17942768 12235905 SOD2 superoxide dismutase 2 gene DOID:9001607 Hypopharyngeal Neoplasms susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs5746134(human) PMID:21940907|REF_RGD_ID:8158078 12235905 SOD2 superoxide dismutase 2 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 12235905 SOD2 superoxide dismutase 2 gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:26073907|REF_RGD_ID:26923954 12235905 SOD2 superoxide dismutase 2 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:3732 D RGD:9068941 20200609 RGD protein:decreased activity:retina: PMID:22240151|REF_RGD_ID:8158043 12235905 SOD2 superoxide dismutase 2 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:22240151|REF_RGD_ID:8158043 12235905 SOD2 superoxide dismutase 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19293248 12235905 SOD2 superoxide dismutase 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:3732 D RGD:9068941 20200609 RGD protein:decreased expression:pulmonary artery PMID:20529999|REF_RGD_ID:27095884 12235905 SOD2 superoxide dismutase 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:730872 D RGD:9068941 20200609 RGD protein:decreased expression:small pulmonary artery PMID:20529999|REF_RGD_ID:27095884 12235905 SOD2 superoxide dismutase 2 gene DOID:9001946 Skin Abnormalities ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24494196 12235905 SOD2 superoxide dismutase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24819633 12235905 SOD2 superoxide dismutase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:17192491|REF_RGD_ID:7175540 12235905 SOD2 superoxide dismutase 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 12235905 SOD2 superoxide dismutase 2 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10673208 12235905 SOD2 superoxide dismutase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12592389|PMID:17465268|PMID:17646272|PMID:18829485|PMID:19074884|PMID:22564066|PMID:23315858|PMID:26468117 12235905 SOD2 superoxide dismutase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15512801|REF_RGD_ID:1581244 12235905 SOD2 superoxide dismutase 2 gene DOID:9002669 Hypoxia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18258771|PMID:19579223 12235905 SOD2 superoxide dismutase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16179351|PMID:18594523 12235905 SOD2 superoxide dismutase 2 gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.V16A(rs4880)(human) PMID:20534900|REF_RGD_ID:8158046 12235905 SOD2 superoxide dismutase 2 gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:polymorphisms:intron:IVS3-23T>G, IVS3-60T>G (human) PMID:15345661|REF_RGD_ID:8158044 12235905 SOD2 superoxide dismutase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 12235905 SOD2 superoxide dismutase 2 gene DOID:9002955 Nerve Degeneration ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11146106 12235905 SOD2 superoxide dismutase 2 gene DOID:9003507 Premature Birth ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26055944 12235905 SOD2 superoxide dismutase 2 gene DOID:9003566 Mesothelioma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11283936|PMID:15039138|PMID:17290392|PMID:9533946 12235905 SOD2 superoxide dismutase 2 gene DOID:9003936 Cardiomegaly ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19293248 12235905 SOD2 superoxide dismutase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:3732 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:15612529|REF_RGD_ID:1582141 12235905 SOD2 superoxide dismutase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16682413|PMID:19193722|PMID:19917352|PMID:21940958|PMID:23743330|PMID:8215636 12235905 SOD2 superoxide dismutase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15087276|REF_RGD_ID:1581259 12235905 SOD2 superoxide dismutase 2 gene DOID:9004464 Skin Neoplasms ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:12032821|REF_RGD_ID:8547517 12235905 SOD2 superoxide dismutase 2 gene DOID:9004464 Skin Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11507057|PMID:20454814|PMID:22009531|PMID:25362851 12235905 SOD2 superoxide dismutase 2 gene DOID:9004464 Skin Neoplasms ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15130280|REF_RGD_ID:8547532 12235905 SOD2 superoxide dismutase 2 gene DOID:9004464 Skin Neoplasms disease_progression ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:22009531|REF_RGD_ID:8547525 12235905 SOD2 superoxide dismutase 2 gene DOID:9004484 Sepsis ISO RGD:3732 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:26266917|REF_RGD_ID:11035300 12235905 SOD2 superoxide dismutase 2 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD associated with female breast cancer;DNA:missense mutation:cds:p.V16A (rs4880) (human) PMID:20309628|REF_RGD_ID:11035278 12235905 SOD2 superoxide dismutase 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15887859|REF_RGD_ID:1581241 12235905 SOD2 superoxide dismutase 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10853026|PMID:11053990|PMID:15048980|PMID:15654357|PMID:21749277|PMID:22580338 12235905 SOD2 superoxide dismutase 2 gene DOID:9005036 Bacteremia ISO RGD:11330 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:24253037|REF_RGD_ID:26923958 12235905 SOD2 superoxide dismutase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23964924 12235905 SOD2 superoxide dismutase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3732 D RGD:9068941 20200609 RGD protein:increased activity:testes PMID:19891634|REF_RGD_ID:2317382 12235905 SOD2 superoxide dismutase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15855331|PMID:23090186 12235905 SOD2 superoxide dismutase 2 gene DOID:9005749 Necrosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19293248|PMID:9548797 12235905 SOD2 superoxide dismutase 2 gene DOID:9005873 Tongue Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20618948 12235905 SOD2 superoxide dismutase 2 gene DOID:9005873 Tongue Neoplasms ISO RGD:730872 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:tongue: PMID:20618948|REF_RGD_ID:8547519 12235905 SOD2 superoxide dismutase 2 gene DOID:9005930 Endotoxemia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16741687 12235905 SOD2 superoxide dismutase 2 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:28875871|REF_RGD_ID:26923956 12235905 SOD2 superoxide dismutase 2 gene DOID:9006924 Cardiogenic Shock ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21062213 12235905 SOD2 superoxide dismutase 2 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:11477087|REF_RGD_ID:1625694 12235905 SOD2 superoxide dismutase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:15681709|REF_RGD_ID:1581233 12235905 SOD2 superoxide dismutase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12235905 SOD2 superoxide dismutase 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12543247|PMID:15274141 12235905 SOD2 superoxide dismutase 2 gene DOID:9007364 Mouth Neoplasms susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs4342445(human) PMID:21940907|REF_RGD_ID:8158078 12235905 SOD2 superoxide dismutase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12235905 SOD2 superoxide dismutase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:19647030|REF_RGD_ID:26923961 12235905 SOD2 superoxide dismutase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:19332662|REF_RGD_ID:26923959 12235905 SOD2 superoxide dismutase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.Val16Ala(human) PMID:20578157|REF_RGD_ID:26923957 12235905 SOD2 superoxide dismutase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:730872 D RGD:9068941 20200609 RGD associated with acute lymphoblastic leukemia;DNA:SNP: :(rs4880)(human) PMID:27019981|REF_RGD_ID:11060605 12235905 SOD2 superoxide dismutase 2 gene DOID:9007480 Hyperoxia ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:2001291|REF_RGD_ID:729952 12235905 SOD2 superoxide dismutase 2 gene DOID:9007502 Brain Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21749277 12235905 SOD2 superoxide dismutase 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20516118|PMID:21742780|PMID:23964924|PMID:25448439|PMID:9067545 12235905 SOD2 superoxide dismutase 2 gene DOID:9007692 Insulin Resistance ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22829583 12235905 SOD2 superoxide dismutase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:11864929|REF_RGD_ID:1581222 12235905 SOD2 superoxide dismutase 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:12668130|REF_RGD_ID:11035287 12235905 SOD2 superoxide dismutase 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12235905 SOD2 superoxide dismutase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10853026|PMID:12907644 12235905 SOD2 superoxide dismutase 2 gene DOID:9008443 Colorectal Neoplasms onset ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:11836586|REF_RGD_ID:1581258 12235905 SOD2 superoxide dismutase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17965603|PMID:19385967|PMID:19756960|PMID:20562527 12235905 SOD2 superoxide dismutase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15168344|REF_RGD_ID:1581248 12235905 SOD2 superoxide dismutase 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :1183C>T (human) PMID:14611903|REF_RGD_ID:1581249 12235905 SOD2 superoxide dismutase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:730872 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:1596865|REF_RGD_ID:11035286 12235905 SOD2 superoxide dismutase 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:16769586|REF_RGD_ID:11035289 12235905 SOD2 superoxide dismutase 2 gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:24563435|REF_RGD_ID:11035307 12235905 SOD2 superoxide dismutase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15531508 12235905 SOD2 superoxide dismutase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A16V (human) PMID:18423055|REF_RGD_ID:2312364 12235905 SOD2 superoxide dismutase 2 gene DOID:9452 fatty liver disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10860543 12235905 SOD2 superoxide dismutase 2 gene DOID:9538 multiple myeloma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15908783 12235905 SOD2 superoxide dismutase 2 gene DOID:9538 multiple myeloma ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15908783|REF_RGD_ID:1581238 12235905 SOD2 superoxide dismutase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A16V (human) PMID:18423055|REF_RGD_ID:2312364 12235905 SOD2 superoxide dismutase 2 gene DOID:9970 obesity ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16317704|PMID:23956348|PMID:30738174 12235905 SOD2 superoxide dismutase 2 gene DOID:9993 hypoglycemia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20620209 12235949 SNTB1 syntrophin beta 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1317088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12235949 SNTB1 syntrophin beta 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1317088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:28595731 12235949 SNTB1 syntrophin beta 1 gene DOID:630 genetic disease ISO RGD:1317088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12235964 POLR3C RNA polymerase III subunit C gene DOID:1227 neutropenia ISO RGD:1323060 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 12235964 POLR3C RNA polymerase III subunit C gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1323060 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 12235964 POLR3C RNA polymerase III subunit C gene DOID:1540 parathyroid carcinoma ISO RGD:1323060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12235964 POLR3C RNA polymerase III subunit C gene DOID:5419 schizophrenia ISO RGD:1323060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12235964 POLR3C RNA polymerase III subunit C gene DOID:630 genetic disease ISO RGD:1323060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12235964 POLR3C RNA polymerase III subunit C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12235988 TIPARP TCDD inducible poly(ADP-ribose) polymerase gene DOID:630 genetic disease ISO RGD:1314636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12235988 TIPARP TCDD inducible poly(ADP-ribose) polymerase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1314636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20852632 12235997 MVK mevalonate kinase gene DOID:0050452 mevalonic aciduria ISO RGD:732031 D RGD:7240710 20180130 OMIM 12235997 MVK mevalonate kinase gene DOID:0050452 mevalonic aciduria ISO RGD:732031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyperimmunoglobulinemia D | ClinVar Annotator: match by term: Mevalonic aciduria | ClinVar Annotator: match by term: Periodic fever Dutch type PMID:10369261|PMID:10369262|PMID:10401001|PMID:10417275|PMID:10896296|PMID:11111075|PMID:11313768|PMID:11313769|PMID:12387810|PMID:12444096|PMID:12563048|PMID:12634869|PMID:13130485|PMID:1377680|PMID:15149516|PMID:15188372|PMID:15457465|PMID:15536479|PMID:15804303|PMID:16197847|PMID:16199547|PMID:16255052|PMID:16435210|PMID:16707534|PMID:16835861|PMID:17105862|PMID:17171314|PMID:17576681|PMID:18414213|PMID:18839211|PMID:19011501|PMID:19786432|PMID:19877056|PMID:20194276|PMID:21225694|PMID:21228398|PMID:21399979|PMID:21425920|PMID:21478439|PMID:21548022|PMID:21708801|PMID:22038276|PMID:22246419|PMID:22271696|PMID:22566169|PMID:22983302|PMID:23006543|PMID:23146290|PMID:23692791|PMID:23707710|PMID:23834120|PMID:23979089|PMID:23998246|PMID:24033266|PMID:24084495|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24411001|PMID:24470648|PMID:24531851|PMID:24561416|PMID:24656624|PMID:25677409|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26202976|PMID:26299986|PMID:26386126|PMID:26409462|PMID:26633545|PMID:26935981|PMID:26977311|PMID:26986117|PMID:27012807|PMID:27142780|PMID:27213830|PMID:28095071|PMID:28359055|PMID:28492532|PMID:28501347|PMID:28638818|PMID:28814775|PMID:29047407|PMID:29290516|PMID:30148429|PMID:31096039|PMID:31278138|PMID:31325964|PMID:31474985|PMID:32060250|PMID:32822427|PMID:33168400|PMID:33917151|PMID:34145613|PMID:34751146|PMID:35387795|PMID:8386351|PMID:9334262|PMID:9536098 12235997 MVK mevalonate kinase gene DOID:0050486 exanthem ISO RGD:732031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10369261 12235997 MVK mevalonate kinase gene DOID:0060743 methylmalonic acidemia cblB type ISO RGD:732031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblB type PMID:15781192|PMID:16199547|PMID:16410054|PMID:20556797|PMID:23707710|PMID:24033266|PMID:25741868|PMID:27591164|PMID:28492532|PMID:30022420|PMID:34796408 12235997 MVK mevalonate kinase gene DOID:0110936 nemaline myopathy 5 ISO RGD:732031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5 PMID:16835861|PMID:22246419|PMID:23006543|PMID:24411001|PMID:25741868|PMID:28492532 12235997 MVK mevalonate kinase gene DOID:0111664 ectodermal dysplasia 1 ISO RGD:732031 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia PMID:25741868 12235997 MVK mevalonate kinase gene DOID:14749 methylmalonic acidemia ISO RGD:732031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:24033266|PMID:25741868|PMID:28492532 12235997 MVK mevalonate kinase gene DOID:2935 Chediak-Higashi syndrome ISO RGD:732031 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10369261|PMID:10369262|PMID:10401001|PMID:10417275|PMID:11111075|PMID:11313769|PMID:12444096|PMID:12634869|PMID:1377680|PMID:15536479|PMID:16255052|PMID:16835861|PMID:17105862|PMID:18414213|PMID:19011501|PMID:21228398|PMID:21425920|PMID:22038276|PMID:22246419|PMID:23006543|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24084495|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24411001|PMID:24470648|PMID:24561416|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26299986|PMID:26633545|PMID:26977311|PMID:26986117|PMID:27142780|PMID:27213830|PMID:28359055|PMID:28492532|PMID:32822427|PMID:33917151|PMID:35387795 12235997 MVK mevalonate kinase gene DOID:2935 Chediak-Higashi syndrome ISO RGD:732031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10369261|PMID:10369262|PMID:10401001|PMID:10417275|PMID:11111075|PMID:11313769|PMID:12444096|PMID:12634869|PMID:1377680|PMID:15149516|PMID:15188372|PMID:15536479|PMID:16255052|PMID:16835861|PMID:17105862|PMID:18414213|PMID:18839211|PMID:19011501|PMID:20194276|PMID:21228398|PMID:21425920|PMID:22038276|PMID:22246419|PMID:23006543|PMID:23692791|PMID:23834120|PMID:23979089|PMID:24033266|PMID:24084495|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24411001|PMID:24470648|PMID:24561416|PMID:24656624|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26299986|PMID:26409462|PMID:26633545|PMID:26977311|PMID:26986117|PMID:27142780|PMID:27213830|PMID:28359055|PMID:28492532|PMID:28638818|PMID:29047407|PMID:29290516|PMID:31474985|PMID:32060250|PMID:32822427|PMID:33917151|PMID:34145613|PMID:35387795 12235997 MVK mevalonate kinase gene DOID:3146 lipid metabolism disorder ISO RGD:732031 D RGD:9068941 20200609 RGD mevalonic aciduria, OMIM:610377, DNA:point mutation:exon:N301T PMID:1377680|REF_RGD_ID:1600528 12235997 MVK mevalonate kinase gene DOID:630 genetic disease ISO RGD:732031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10369261|PMID:10369262|PMID:10401001|PMID:10417275|PMID:11313769|PMID:12444096|PMID:12634869|PMID:15149516|PMID:15536479|PMID:17105862|PMID:18839211|PMID:19011501|PMID:21228398|PMID:21425920|PMID:22038276|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24084495|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26409462|PMID:26633545|PMID:26977311|PMID:26986117|PMID:27142780|PMID:27213830|PMID:28359055|PMID:28492532|PMID:28814775|PMID:29290516|PMID:31278138|PMID:31474985|PMID:32060250|PMID:32822427|PMID:33917151|PMID:34145613|PMID:35387795 12235997 MVK mevalonate kinase gene DOID:684 hepatocellular carcinoma ISO RGD:732031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 12235997 MVK mevalonate kinase gene DOID:8501 fundus dystrophy ISO RGD:732031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15457465 12235997 MVK mevalonate kinase gene DOID:9000408 Porokeratosis 3, Multiple Types ISO RGD:732031 D RGD:7240710 20180130 OMIM 12235997 MVK mevalonate kinase gene DOID:9000408 Porokeratosis 3, Multiple Types ISO RGD:732031 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: POROKERATOSIS 3, MULTIPLE TYPES | ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1 PMID:10369261|PMID:10369262|PMID:10401001|PMID:10417275|PMID:10896296|PMID:11111075|PMID:11313768|PMID:11313769|PMID:12387810|PMID:12444096|PMID:12563048|PMID:12634869|PMID:1377680|PMID:15149516|PMID:15188372|PMID:15536479|PMID:15804303|PMID:16197847|PMID:16199547|PMID:16255052|PMID:16435210|PMID:16835861|PMID:17105862|PMID:17171314|PMID:18414213|PMID:18839211|PMID:19011501|PMID:19786432|PMID:19877056|PMID:20194276|PMID:21228398|PMID:21399979|PMID:21425920|PMID:21478439|PMID:21548022|PMID:21708801|PMID:22038276|PMID:22246419|PMID:22566169|PMID:22983302|PMID:23006543|PMID:23146290|PMID:23692791|PMID:23834120|PMID:23979089|PMID:23998246|PMID:24033266|PMID:24084495|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24411001|PMID:24470648|PMID:24531851|PMID:24561416|PMID:24656624|PMID:24781643|PMID:24794831|PMID:25677409|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26202976|PMID:26299986|PMID:26386126|PMID:26409462|PMID:26633545|PMID:26935981|PMID:26977311|PMID:26986117|PMID:27012807|PMID:27142780|PMID:27213830|PMID:28095071|PMID:28359055|PMID:28492532|PMID:28501347|PMID:28638818|PMID:28814775|PMID:29047407|PMID:29290516|PMID:31096039|PMID:31278138|PMID:31474985|PMID:32060250|PMID:32822427|PMID:33168400|PMID:33917151|PMID:34145613|PMID:35387795|PMID:8386351|PMID:9334262 12235997 MVK mevalonate kinase gene DOID:9000972 Fever ISO RGD:732031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10369261 12235997 MVK mevalonate kinase gene DOID:9005372 Inflammation ISO RGD:732031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24073415 12235997 MVK mevalonate kinase gene DOID:9006065 Arthralgia ISO RGD:732031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10369261 12236015 TLL2 tolloid like 2 gene DOID:12377 spinal muscular atrophy ISO RGD:1312462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy PMID:25741868 12236015 TLL2 tolloid like 2 gene DOID:630 genetic disease ISO RGD:1312462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236041 DNAH2 dynein axonemal heavy chain 2 gene DOID:0070297 primary microcephaly ISO RGD:1343596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:25741868 12236041 DNAH2 dynein axonemal heavy chain 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1343596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12236041 DNAH2 dynein axonemal heavy chain 2 gene DOID:0112163 spermatogenic failure 45 ISO RGD:1343596 D RGD:7240710 20201202 OMIM 12236041 DNAH2 dynein axonemal heavy chain 2 gene DOID:0112163 spermatogenic failure 45 ISO RGD:1343596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 45 PMID:25741868|PMID:30811583 12236041 DNAH2 dynein axonemal heavy chain 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1343596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12236041 DNAH2 dynein axonemal heavy chain 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1343596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12236041 DNAH2 dynein axonemal heavy chain 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1343596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12236041 DNAH2 dynein axonemal heavy chain 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1343596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12236041 DNAH2 dynein axonemal heavy chain 2 gene DOID:630 genetic disease ISO RGD:1343596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236133 CCDC78 coiled-coil domain containing 78 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1345830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12236133 CCDC78 coiled-coil domain containing 78 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1345830 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12236133 CCDC78 coiled-coil domain containing 78 gene DOID:0111224 centronuclear myopathy 4 ISO RGD:1345830 D RGD:7240710 20180130 OMIM 12236133 CCDC78 coiled-coil domain containing 78 gene DOID:0111224 centronuclear myopathy 4 ISO RGD:1345830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 4 PMID:16199547|PMID:17576681|PMID:18414213|PMID:22818856|PMID:25741868|PMID:26467025|PMID:26633542|PMID:28492532|PMID:9536098 12236133 CCDC78 coiled-coil domain containing 78 gene DOID:1826 epilepsy ISO RGD:1345830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12236133 CCDC78 coiled-coil domain containing 78 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1345830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12236133 CCDC78 coiled-coil domain containing 78 gene DOID:422 congenital structural myopathy ISO RGD:1345830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12236133 CCDC78 coiled-coil domain containing 78 gene DOID:630 genetic disease ISO RGD:1345830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12236166 KLHL14 kelch like family member 14 gene DOID:1059 intellectual disability ISO RGD:1321388 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12236166 KLHL14 kelch like family member 14 gene DOID:630 genetic disease ISO RGD:1321388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236185 PNMT phenylethanolamine N-methyltransferase gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:732850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 12236185 PNMT phenylethanolamine N-methyltransferase gene DOID:10652 Alzheimer's disease onset ISO RGD:732850 D RGD:9068941 20200609 RGD DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human) PMID:11378842|REF_RGD_ID:5130171 12236185 PNMT phenylethanolamine N-methyltransferase gene DOID:10763 hypertension ISO RGD:3361 D RGD:9068941 20200609 RGD protein:decreased activity:adrenal gland (rat) PMID:20378607|REF_RGD_ID:5130152 12236185 PNMT phenylethanolamine N-methyltransferase gene DOID:10763 hypertension ISO RGD:732850 D RGD:9068941 20200609 RGD DNA:snp:5' utr:g.-390G>A (human) PMID:14553966|REF_RGD_ID:5130164 12236185 PNMT phenylethanolamine N-methyltransferase gene DOID:10763 hypertension no_association ISO RGD:732850 D RGD:9068941 20200609 RGD DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human) PMID:17645789|REF_RGD_ID:5130172 12236185 PNMT phenylethanolamine N-methyltransferase gene DOID:2377 multiple sclerosis ISO RGD:732850 D RGD:9068941 20200609 RGD DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human) PMID:11958827|REF_RGD_ID:1358561 12236185 PNMT phenylethanolamine N-methyltransferase gene DOID:630 genetic disease ISO RGD:732850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236185 PNMT phenylethanolamine N-methyltransferase gene DOID:9004009 Reperfusion Injury ISO RGD:732850 D RGD:9068941 20200609 RGD protein:increased expression:medulla oblongata (human) PMID:21061149|REF_RGD_ID:5128821 12236185 PNMT phenylethanolamine N-methyltransferase gene DOID:9005166 Contusions ISO RGD:3361 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland (rat) PMID:18987458|REF_RGD_ID:5129532 12236185 PNMT phenylethanolamine N-methyltransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3361 D RGD:9068941 20200609 RGD protein:increased expression:adrenal gland (rat) PMID:16396986|REF_RGD_ID:5130724 12236185 PNMT phenylethanolamine N-methyltransferase gene DOID:9993 hypoglycemia ISO RGD:3361 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA:decreased expression:adrenal gland (rat) PMID:15494609|REF_RGD_ID:5130725 12236192 CDK12 cyclin dependent kinase 12 gene DOID:10534 stomach cancer exacerbates ISO RGD:733880 D RGD:9068941 20220303 RGD protein:decreased expression:stomach (human) PMID:32534699|REF_RGD_ID:151361171 12236192 CDK12 cyclin dependent kinase 12 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:733880 D RGD:9068941 20220303 RGD protein:increased expression:stomach (human) PMID:31523177|REF_RGD_ID:151361173 12236192 CDK12 cyclin dependent kinase 12 gene DOID:3910 lung adenocarcinoma ISO RGD:733880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma 12236192 CDK12 cyclin dependent kinase 12 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733880 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24728327|PMID:25741868 12236192 CDK12 cyclin dependent kinase 12 gene DOID:630 genetic disease ISO RGD:733880 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236192 CDK12 cyclin dependent kinase 12 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:733880 D RGD:9068941 20220303 RGD mRNA, protein:increased expression:liver (human) PMID:31519701|REF_RGD_ID:151361172 12236192 CDK12 cyclin dependent kinase 12 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12236234 IGF2BP1 insulin like growth factor 2 mRNA binding protein 1 gene DOID:0050912 colon adenoma ISO RGD:1623845 D RGD:9068941 20201218 RGD PMID:26194191|REF_RGD_ID:11086893 12236234 IGF2BP1 insulin like growth factor 2 mRNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1606571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236234 IGF2BP1 insulin like growth factor 2 mRNA binding protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1606571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12236234 IGF2BP1 insulin like growth factor 2 mRNA binding protein 1 gene DOID:8566 herpes simplex ISO RGD:1623845 D RGD:9068941 20201218 RGD PMID:30050136|REF_RGD_ID:40902865 12236234 IGF2BP1 insulin like growth factor 2 mRNA binding protein 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1606571 D RGD:9068941 20220609 CTD CTD Direct Evidence: therapeutic PMID:34974052 12236255 RAB18 RAB18, member RAS oncogene family gene DOID:0060237 Warburg micro syndrome ISO RGD:1318941 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome PMID:25741868|PMID:28492532 12236255 RAB18 RAB18, member RAS oncogene family gene DOID:0110718 Warburg micro syndrome 3 ISO RGD:1318941 D RGD:7240710 20180130 OMIM 12236255 RAB18 RAB18, member RAS oncogene family gene DOID:0110718 Warburg micro syndrome 3 ISO RGD:1318941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome 3 PMID:21473985|PMID:23420520|PMID:25741868|PMID:28492532|PMID:29300443 12236255 RAB18 RAB18, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1318941 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12236277 NIF3L1 NGG1 interacting factor 3 like 1 gene DOID:630 genetic disease ISO RGD:1321170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236277 NIF3L1 NGG1 interacting factor 3 like 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1321170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12236277 NIF3L1 NGG1 interacting factor 3 like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12236321 RING1 ring finger protein 1 gene DOID:0050553 JMP syndrome ISO RGD:1353088 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12236321 RING1 ring finger protein 1 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1353088 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 12236321 RING1 ring finger protein 1 gene DOID:630 genetic disease ISO RGD:1353088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236332 IL24 interleukin 24 gene DOID:0050589 inflammatory bowel disease ISO RGD:1605405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 12236332 IL24 interleukin 24 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1605405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 12236332 IL24 interleukin 24 gene DOID:12849 autistic disorder ISO RGD:1605405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12236332 IL24 interleukin 24 gene DOID:1540 parathyroid carcinoma ISO RGD:1605405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12236332 IL24 interleukin 24 gene DOID:1793 pancreatic cancer ISO RGD:1605405 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15580305 12236332 IL24 interleukin 24 gene DOID:3388 periodontal disease ISO RGD:621484 D RGD:9068941 20200609 RGD mRNA:increased expression:lymph node, T cell PMID:20618701|REF_RGD_ID:5024938 12236332 IL24 interleukin 24 gene DOID:630 genetic disease ISO RGD:1605405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236332 IL24 interleukin 24 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605405 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14678967|PMID:21671747 12236332 IL24 interleukin 24 gene DOID:9003281 Spontaneous Abortions ISO RGD:1605405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12236332 IL24 interleukin 24 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1605405 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12236332 IL24 interleukin 24 gene DOID:9005172 Lung Neoplasms ISO RGD:1605405 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12830052|PMID:15713900 12236332 IL24 interleukin 24 gene DOID:9007417 Pseudomonas Infections ISO RGD:1605405 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:19399182|REF_RGD_ID:5147421 12236332 IL24 interleukin 24 gene DOID:9008939 Breast Neoplasms ISO RGD:1605405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16298037|PMID:21671747 12236332 IL24 interleukin 24 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12236341 GPR21 G protein-coupled receptor 21 gene DOID:630 genetic disease ISO RGD:1351876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236346 E4F1 E4F transcription factor 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1348626 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 12236346 E4F1 E4F transcription factor 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1348626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 12236346 E4F1 E4F transcription factor 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1348626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12236346 E4F1 E4F transcription factor 1 gene DOID:1826 epilepsy ISO RGD:1348626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12236346 E4F1 E4F transcription factor 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1348626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12236346 E4F1 E4F transcription factor 1 gene DOID:2871 endometrial carcinoma ISO RGD:1348626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 12236346 E4F1 E4F transcription factor 1 gene DOID:630 genetic disease ISO RGD:1348626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236346 E4F1 E4F transcription factor 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1348626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12236346 E4F1 E4F transcription factor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1348626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30506647 12236367 LOC100686048 keratin-associated protein 4-11-like gene DOID:630 genetic disease ISO RGD:1352061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236375 C4BPA complement component 4 binding protein alpha gene DOID:0050589 inflammatory bowel disease ISO RGD:736103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 12236375 C4BPA complement component 4 binding protein alpha gene DOID:0080600 COVID-19 severity ISO RGD:736103 D RGD:9068941 20200813 RGD DNA:SNP: :rs61821041(human) PMID:32747830|REF_RGD_ID:38500238 12236375 C4BPA complement component 4 binding protein alpha gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:736103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 12236375 C4BPA complement component 4 binding protein alpha gene DOID:12849 autistic disorder ISO RGD:736103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12236375 C4BPA complement component 4 binding protein alpha gene DOID:1540 parathyroid carcinoma ISO RGD:736103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12236375 C4BPA complement component 4 binding protein alpha gene DOID:630 genetic disease ISO RGD:736103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236375 C4BPA complement component 4 binding protein alpha gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736103 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12236375 C4BPA complement component 4 binding protein alpha gene DOID:9008604 Radiation Pneumonitis ISO RGD:736103 D RGD:9068941 20200609 RGD Protein: increased expression: plasma PMID:20510197|REF_RGD_ID:5129484 12236375 C4BPA complement component 4 binding protein alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12236396 FGFBP3 fibroblast growth factor binding protein 3 gene DOID:630 genetic disease ISO RGD:1347294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236419 CROCC2 ciliary rootlet coiled-coil, rootletin family member 2 gene DOID:0080600 COVID-19 ISO RGD:10040878 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12236419 CROCC2 ciliary rootlet coiled-coil, rootletin family member 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:10040878 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12236476 LOC102156789 immunoglobulin lambda variable 8-61-like gene DOID:12849 autistic disorder ISO RGD:1344347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12236476 LOC102156789 immunoglobulin lambda variable 8-61-like gene DOID:5419 schizophrenia ISO RGD:1344347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12236529 RPL23 ribosomal protein L23 gene DOID:630 genetic disease ISO RGD:1354324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12236539 PTPRF protein tyrosine phosphatase receptor type F gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:734202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12236539 PTPRF protein tyrosine phosphatase receptor type F gene DOID:1790 malignant mesothelioma ISO RGD:734202 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12236539 PTPRF protein tyrosine phosphatase receptor type F gene DOID:2018 hyperinsulinism ISO RGD:734202 D RGD:9068941 20200609 RGD protein:increased expression::mouse model overexpressing human transgene, fasting plasma insulin increased 2.5-fold, glucose disposal and uptake into muscle reduced PMID:11309481|REF_RGD_ID:1642735 12236539 PTPRF protein tyrosine phosphatase receptor type F gene DOID:6000 congestive heart failure ISO RGD:734202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28751527 12236539 PTPRF protein tyrosine phosphatase receptor type F gene DOID:630 genetic disease ISO RGD:734202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236539 PTPRF protein tyrosine phosphatase receptor type F gene DOID:9000217 Stomach Neoplasms ISO RGD:734202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12236539 PTPRF protein tyrosine phosphatase receptor type F gene DOID:9000918 Disease Progression ISO RGD:734202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12236539 PTPRF protein tyrosine phosphatase receptor type F gene DOID:9001437 Aplasia or Hypoplasia of Breasts and/or Nipples 2 ISO RGD:734202 D RGD:7240710 20180130 OMIM 12236539 PTPRF protein tyrosine phosphatase receptor type F gene DOID:9001437 Aplasia or Hypoplasia of Breasts and/or Nipples 2 ISO RGD:734202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breasts and/or nipples, aplasia or hypoplasia of, 2 12236539 PTPRF protein tyrosine phosphatase receptor type F gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:734202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28751527 12236539 PTPRF protein tyrosine phosphatase receptor type F gene DOID:9007692 Insulin Resistance ISO RGD:734202 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:skeletal muscle:activity increased to 140-170% of control in insulin-resistant obese (BMI>30) nondiabetic subjects (p<0.05); activity decreased to 39% in obese NIDDM subjects (p<0.05) PMID:9218523|REF_RGD_ID:1642733 12236539 PTPRF protein tyrosine phosphatase receptor type F gene DOID:9007692 Insulin Resistance ISO RGD:734202 D RGD:9068941 20200609 RGD protein:increased expression::mouse model overexpressing human transgene, fasting plasma insulin increased 2.5-fold, glucose disposal and uptake into muscle reduced PMID:11309481|REF_RGD_ID:1642735 12236539 PTPRF protein tyrosine phosphatase receptor type F gene DOID:9970 obesity ISO RGD:3453 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle:increased 42% in insulin-resistant obese (fa/fa) and 50% in diabetic (ZDF/Drt-fa/fa) Zucker rats (P<0.05) PMID:7666792|REF_RGD_ID:1642732 12236539 PTPRF protein tyrosine phosphatase receptor type F gene DOID:9970 obesity ISO RGD:734202 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:skeletal muscle:activity increased to 140-170% of control in insulin-resistant obese (BMI>30) nondiabetic subjects (p<0.05); activity decreased to 39% in obese NIDDM subjects (p<0.05) PMID:9218523|REF_RGD_ID:1642733 12236539 PTPRF protein tyrosine phosphatase receptor type F gene DOID:9970 obesity ISO RGD:734202 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:subcutaneous adipose tissue:2.03-fold higher activity in obese than lean individuals (P < 0.001) PMID:7769120|REF_RGD_ID:1642727 12236586 ATP1B3 ATPase Na+/K+ transporting subunit beta 3 gene DOID:630 genetic disease ISO RGD:733031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236596 GTF3C3 general transcription factor IIIC subunit 3 gene DOID:630 genetic disease ISO RGD:1319385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236596 GTF3C3 general transcription factor IIIC subunit 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319385 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28097321|PMID:28940097|PMID:30552426 12236618 EPB41L4A erythrocyte membrane protein band 4.1 like 4A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314419 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12236618 EPB41L4A erythrocyte membrane protein band 4.1 like 4A gene DOID:630 genetic disease ISO RGD:1314419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236618 EPB41L4A erythrocyte membrane protein band 4.1 like 4A gene DOID:9001276 Failure to Thrive ISO RGD:1314419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25558065 12236618 EPB41L4A erythrocyte membrane protein band 4.1 like 4A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12236618 EPB41L4A erythrocyte membrane protein band 4.1 like 4A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314419 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12236645 EIF2S3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12236645 EIF2S3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:0060801 MEHMO syndrome ISO RGD:1346365 D RGD:7240710 20190315 OMIM 12236645 EIF2S3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:0060801 MEHMO syndrome ISO RGD:1346365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MEHMO syndrome PMID:23063529|PMID:25741868|PMID:25741869|PMID:27333055|PMID:28055140 12236645 EIF2S3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:12849 autistic disorder ISO RGD:1346365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12236645 EIF2S3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:630 genetic disease ISO RGD:1346365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236645 EIF2S3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12236661 TCF23 transcription factor 23 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1606698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12236661 TCF23 transcription factor 23 gene DOID:630 genetic disease ISO RGD:1606698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236669 INHBA inhibin subunit beta A gene DOID:0050827 rheumatic heart disease ISO RGD:62074 D RGD:9068941 20230202 RGD mRNA, protein:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 12236669 INHBA inhibin subunit beta A gene DOID:10591 pre-eclampsia ISO RGD:732688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17332518 12236669 INHBA inhibin subunit beta A gene DOID:11714 gestational diabetes ISO RGD:732688 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:14663836|REF_RGD_ID:2313391 12236669 INHBA inhibin subunit beta A gene DOID:11714 gestational diabetes ISO RGD:732688 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:7852520|REF_RGD_ID:2313385 12236669 INHBA inhibin subunit beta A gene DOID:127 leiomyoma ISO RGD:732688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228119 12236669 INHBA inhibin subunit beta A gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:732688 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 12236669 INHBA inhibin subunit beta A gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:732688 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:10441570|PMID:15739154|PMID:18000979|PMID:20672375|PMID:24736735|PMID:28492532|PMID:29236091 12236669 INHBA inhibin subunit beta A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12236669 INHBA inhibin subunit beta A gene DOID:5844 myocardial infarction ISO RGD:62074 D RGD:9068941 20230427 RGD mRNA:increased expression:heart (rat) PMID:14993131|REF_RGD_ID:1580888 12236669 INHBA inhibin subunit beta A gene DOID:6000 congestive heart failure severity ISO RGD:732688 D RGD:9068941 20230427 RGD mRNA, protein:increased expression:PBMC, Tcells, serum (human) PMID:14993131|REF_RGD_ID:1580888 12236669 INHBA inhibin subunit beta A gene DOID:630 genetic disease ISO RGD:732688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236669 INHBA inhibin subunit beta A gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:62074 D RGD:9068941 20230427 RGD mRNA:increased expression:brain (rat) PMID:10415398|REF_RGD_ID:329322882 12236669 INHBA inhibin subunit beta A gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:732688 D RGD:9068941 20230427 RGD human construct in rat model PMID:10415398|REF_RGD_ID:329322882 12236669 INHBA inhibin subunit beta A gene DOID:9004265 Endometrioid Carcinomas ISO RGD:732688 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium PMID:16423381|REF_RGD_ID:2301688 12236669 INHBA inhibin subunit beta A gene DOID:9004268 Uterine Neoplasms ISO RGD:732688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228119 12236669 INHBA inhibin subunit beta A gene DOID:9004590 Acute Liver Failure ISO RGD:732688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12560755 12236675 SPHK1 sphingosine kinase 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18283525 12236675 SPHK1 sphingosine kinase 1 gene DOID:1240 leukemia ISO RGD:1346404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18283525 12236675 SPHK1 sphingosine kinase 1 gene DOID:299 adenocarcinoma ISO RGD:620048 D RGD:9068941 20200609 RGD protein, mRNA:increased expression:colon mucosa (rat) PMID:16319132|REF_RGD_ID:2311380 12236675 SPHK1 sphingosine kinase 1 gene DOID:3070 high grade glioma ISO RGD:620048 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell (rat) PMID:17316399|REF_RGD_ID:2311379 12236675 SPHK1 sphingosine kinase 1 gene DOID:630 genetic disease ISO RGD:1346404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236675 SPHK1 sphingosine kinase 1 gene DOID:8577 ulcerative colitis ISO RGD:1346404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24055189 12236675 SPHK1 sphingosine kinase 1 gene DOID:9000784 Fibrosis ISO RGD:1346404 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19657322 12236675 SPHK1 sphingosine kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346404 D RGD:9068941 20200609 RGD PMID:17265031|REF_RGD_ID:2311390 12236684 SLC26A1 solute carrier family 26 member 1 gene DOID:0060222 Scheie syndrome ISO RGD:736905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE V | ClinVar Annotator: match by term: Scheie Syndrome PMID:10215409|PMID:11159948|PMID:11735025|PMID:12203999|PMID:12509712|PMID:12559846|PMID:1301941|PMID:14559116|PMID:1505961|PMID:15862278|PMID:18796143|PMID:19396826|PMID:19839758|PMID:21394825|PMID:21480867|PMID:21831683|PMID:22306676|PMID:22976768|PMID:23786846|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24314423|PMID:24368159|PMID:25741868|PMID:27896125|PMID:28492532|PMID:28752568|PMID:29393969|PMID:7550242|PMID:7951228|PMID:8401515|PMID:8664897|PMID:9427149|PMID:9748610|PMID:9787109 12236684 SLC26A1 solute carrier family 26 member 1 gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:736905 D RGD:7240710 20190315 OMIM 12236684 SLC26A1 solute carrier family 26 member 1 gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:736905 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:25741868|PMID:27125215|PMID:27210743|PMID:27238910|PMID:27939258|PMID:28492532|PMID:32432561 12236684 SLC26A1 solute carrier family 26 member 1 gene DOID:0080653 urolithiasis ISO RGD:736905 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19002488|PMID:20160351 12236684 SLC26A1 solute carrier family 26 member 1 gene DOID:0111389 mucopolysaccharidosis Ih/s ISO RGD:736905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S PMID:10215409|PMID:11159948|PMID:11735025|PMID:12203999|PMID:12509712|PMID:12559846|PMID:1301941|PMID:14559116|PMID:1505961|PMID:15862278|PMID:18796143|PMID:19396826|PMID:19839758|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21831683|PMID:22306676|PMID:22976768|PMID:23786846|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24314423|PMID:24368159|PMID:25741868|PMID:27896125|PMID:28492532|PMID:28752568|PMID:29282708|PMID:29393969|PMID:7550242|PMID:7951228|PMID:8213840|PMID:8401515|PMID:8664897|PMID:8680403|PMID:9427149|PMID:9748610|PMID:9787109 12236684 SLC26A1 solute carrier family 26 member 1 gene DOID:0111390 mucopolysaccharidosis Ih ISO RGD:736905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome | ClinVar Annotator: match by term: Hurler syndrome PMID:10215409|PMID:11159948|PMID:11735025|PMID:12189649|PMID:12203999|PMID:12509712|PMID:12559846|PMID:1301941|PMID:14559116|PMID:1505961|PMID:15300847|PMID:15862278|PMID:16438163|PMID:18796143|PMID:19396826|PMID:19839758|PMID:20217237|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21831683|PMID:22306676|PMID:22976768|PMID:23430803|PMID:23465405|PMID:23786846|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24314423|PMID:24368159|PMID:24798265|PMID:25009127|PMID:25256405|PMID:25557439|PMID:25741868|PMID:27146977|PMID:27238910|PMID:27511503|PMID:27843123|PMID:27896125|PMID:27939258|PMID:28492532|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:29282708|PMID:29393969|PMID:29843745|PMID:31194252|PMID:31236806|PMID:32432561|PMID:6821579|PMID:7550232|PMID:7550242|PMID:7951228|PMID:8019563|PMID:8213840|PMID:8328452|PMID:8401515|PMID:8477267|PMID:8664897|PMID:8680403|PMID:9427149|PMID:9748610|PMID:9787109 12236684 SLC26A1 solute carrier family 26 member 1 gene DOID:12679 nephrocalcinosis ISO RGD:736905 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20160351 12236684 SLC26A1 solute carrier family 26 member 1 gene DOID:12802 mucopolysaccharidosis I ISO RGD:736905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency | ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 PMID:10215409|PMID:11159948|PMID:11735025|PMID:12189649|PMID:12203999|PMID:12509712|PMID:12559846|PMID:1301941|PMID:14559116|PMID:1505961|PMID:15300847|PMID:15862278|PMID:16199547|PMID:16438163|PMID:17407067|PMID:18796143|PMID:19396826|PMID:19839758|PMID:20217237|PMID:21176924|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21734815|PMID:21831683|PMID:22306676|PMID:22976768|PMID:23430803|PMID:23465405|PMID:23786846|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24314423|PMID:24368159|PMID:24781210|PMID:25009127|PMID:25256405|PMID:25557439|PMID:25741868|PMID:27146977|PMID:27238910|PMID:27511503|PMID:27766162|PMID:27843123|PMID:27896125|PMID:27939258|PMID:28492532|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:29143201|PMID:29282708|PMID:29393969|PMID:29843745|PMID:30755342|PMID:31194252|PMID:31236806|PMID:32432561|PMID:6821579|PMID:7550232|PMID:7550242|PMID:7951228|PMID:8019563|PMID:8213840|PMID:8328452|PMID:8401515|PMID:8477267|PMID:8664897|PMID:8680403|PMID:9427149|PMID:9748610|PMID:9787109 12236684 SLC26A1 solute carrier family 26 member 1 gene DOID:1856 cherubism ISO RGD:736905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12236684 SLC26A1 solute carrier family 26 member 1 gene DOID:2978 carbohydrate metabolic disorder ISO RGD:736905 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormality of mucopolysaccharide metabolism PMID:11735025|PMID:21176924|PMID:21480867|PMID:25741868|PMID:28492532|PMID:30755342|PMID:7550242 12236684 SLC26A1 solute carrier family 26 member 1 gene DOID:3082 interstitial lung disease ISO RGD:736905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial pneumonitis PMID:10215409|PMID:11159948|PMID:11735025|PMID:1301941|PMID:1505961|PMID:18796143|PMID:19396826|PMID:21394825|PMID:21480867|PMID:21831683|PMID:22976768|PMID:23786846|PMID:24033266|PMID:24314423|PMID:24368159|PMID:25741868|PMID:28492532|PMID:28752568|PMID:29393969|PMID:7951228|PMID:8401515|PMID:9427149|PMID:9787109 12236684 SLC26A1 solute carrier family 26 member 1 gene DOID:585 nephrolithiasis ISO RGD:736905 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis | ClinVar Annotator: match by term: Calcium oxalate urolithiasis PMID:25741868|PMID:27125215|PMID:27210743|PMID:27238910|PMID:27939258|PMID:28492532|PMID:32432561 12236684 SLC26A1 solute carrier family 26 member 1 gene DOID:630 genetic disease ISO RGD:736905 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15300847|PMID:23465405|PMID:25741868|PMID:27843123|PMID:27939258|PMID:28492532|PMID:28721335|PMID:28725570|PMID:28728811 12236684 SLC26A1 solute carrier family 26 member 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:736905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 12236684 SLC26A1 solute carrier family 26 member 1 gene DOID:9004912 Hyperoxaluria ISO RGD:736905 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20160351 12236684 SLC26A1 solute carrier family 26 member 1 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:736905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 12236698 VSIG2 V-set and immunoglobulin domain containing 2 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1344618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12236698 VSIG2 V-set and immunoglobulin domain containing 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1344618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12236698 VSIG2 V-set and immunoglobulin domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1344618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12236698 VSIG2 V-set and immunoglobulin domain containing 2 gene DOID:630 genetic disease ISO RGD:1344618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236698 VSIG2 V-set and immunoglobulin domain containing 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12236698 VSIG2 V-set and immunoglobulin domain containing 2 gene DOID:9007661 Dwarfism ISO RGD:1344618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12236709 NLK nemo like kinase gene DOID:5844 myocardial infarction ISO RGD:1561602 D RGD:9068941 20230330 RGD mRNA, protein:decreased expression:heart PMID:26861724|REF_RGD_ID:242905213 12236709 NLK nemo like kinase gene DOID:630 genetic disease ISO RGD:1321854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236709 NLK nemo like kinase gene DOID:9000039 Spinal Cord Injuries ISO RGD:1561602 D RGD:9068941 20200609 RGD protein:increased expression:grey matter: PMID:24395089|REF_RGD_ID:12791278 12236709 NLK nemo like kinase gene DOID:9000438 Subarachnoid Hemorrhage disease_progression ISO RGD:1561602 D RGD:9068941 20200609 RGD PMID:23325309|REF_RGD_ID:12791279 12236724 CCDC71L coiled-coil domain containing 71 like gene DOID:3007 breast ductal carcinoma ISO RGD:1602288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12236724 CCDC71L coiled-coil domain containing 71 like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12236724 CCDC71L coiled-coil domain containing 71 like gene DOID:630 genetic disease ISO RGD:1602288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236729 LMO1 LIM domain only 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1352109 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:19246562|PMID:2034676|PMID:3259177 12236729 LMO1 LIM domain only 1 gene DOID:630 genetic disease ISO RGD:1352109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236743 ITFG2 integrin alpha FG-GAP repeat containing 2 gene DOID:630 genetic disease ISO RGD:1603635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236743 ITFG2 integrin alpha FG-GAP repeat containing 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12236765 SLC15A3 solute carrier family 15 member 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1348958 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12236765 SLC15A3 solute carrier family 15 member 3 gene DOID:1059 intellectual disability ISO RGD:1348958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12236765 SLC15A3 solute carrier family 15 member 3 gene DOID:630 genetic disease ISO RGD:1348958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236765 SLC15A3 solute carrier family 15 member 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12236776 C6H16orf96 chromosome 6 C16orf96 homolog gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:5487050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12236776 C6H16orf96 chromosome 6 C16orf96 homolog gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:5487050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 12236776 C6H16orf96 chromosome 6 C16orf96 homolog gene DOID:1826 epilepsy ISO RGD:5487050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12236776 C6H16orf96 chromosome 6 C16orf96 homolog gene DOID:1827 idiopathic generalized epilepsy ISO RGD:5487050 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12236776 C6H16orf96 chromosome 6 C16orf96 homolog gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:5487050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12236776 C6H16orf96 chromosome 6 C16orf96 homolog gene DOID:630 genetic disease ISO RGD:5487050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236817 RPL27 ribosomal protein L27 gene DOID:0111893 Diamond-Blackfan anemia 16 ISO RGD:735597 D RGD:7240710 20190315 OMIM 12236817 RPL27 ribosomal protein L27 gene DOID:0111893 Diamond-Blackfan anemia 16 ISO RGD:735597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 16 PMID:25424902|PMID:25741868|PMID:28492532 12236817 RPL27 ribosomal protein L27 gene DOID:630 genetic disease ISO RGD:735597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236826 IFT27 intraflagellar transport 27 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1318628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12236826 IFT27 intraflagellar transport 27 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1318628 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12236826 IFT27 intraflagellar transport 27 gene DOID:0110141 Bardet-Biedl syndrome 19 ISO RGD:1318628 D RGD:7240710 20180130 OMIM 12236826 IFT27 intraflagellar transport 27 gene DOID:0110141 Bardet-Biedl syndrome 19 ISO RGD:1318628 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 19 PMID:24488770|PMID:25741868|PMID:28492532|PMID:29704304|PMID:30761183 12236826 IFT27 intraflagellar transport 27 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1318628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12236826 IFT27 intraflagellar transport 27 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1318628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12236826 IFT27 intraflagellar transport 27 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1318628 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532|PMID:29704304|PMID:30761183 12236826 IFT27 intraflagellar transport 27 gene DOID:630 genetic disease ISO RGD:1318628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12236838 EPHB6 EPH receptor B6 gene DOID:12365 malaria ISO RGD:1314624 D RGD:9068941 20210625 RGD PMID:25784101|REF_RGD_ID:127285023 12236838 EPHB6 EPH receptor B6 gene DOID:2661 myoepithelioma ISO RGD:1314623 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12236838 EPHB6 EPH receptor B6 gene DOID:630 genetic disease ISO RGD:1314623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236860 LETM2 leucine zipper and EF-hand containing transmembrane protein 2 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1322565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 12236860 LETM2 leucine zipper and EF-hand containing transmembrane protein 2 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1322565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 12236860 LETM2 leucine zipper and EF-hand containing transmembrane protein 2 gene DOID:607 paraplegia ISO RGD:1322565 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12236860 LETM2 leucine zipper and EF-hand containing transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:1322565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236930 ZUP1 zinc finger containing ubiquitin peptidase 1 gene DOID:0060163 body dysmorphic disorder ISO RGD:1316997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 12236930 ZUP1 zinc finger containing ubiquitin peptidase 1 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1316997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12236930 ZUP1 zinc finger containing ubiquitin peptidase 1 gene DOID:1059 intellectual disability ISO RGD:1316997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 12236930 ZUP1 zinc finger containing ubiquitin peptidase 1 gene DOID:10907 microcephaly ISO RGD:1316997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 12236930 ZUP1 zinc finger containing ubiquitin peptidase 1 gene DOID:1826 epilepsy ISO RGD:1316997 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12236930 ZUP1 zinc finger containing ubiquitin peptidase 1 gene DOID:630 genetic disease ISO RGD:1316997 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236930 ZUP1 zinc finger containing ubiquitin peptidase 1 gene DOID:9000495 Tremor ISO RGD:1316997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12236930 ZUP1 zinc finger containing ubiquitin peptidase 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12236944 NMNAT3 nicotinamide nucleotide adenylyltransferase 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1319314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12236944 NMNAT3 nicotinamide nucleotide adenylyltransferase 3 gene DOID:1686 glaucoma treatment ISO RGD:1309140 D RGD:9068941 20200609 RGD PMID:24136224|REF_RGD_ID:13782046 12236944 NMNAT3 nicotinamide nucleotide adenylyltransferase 3 gene DOID:630 genetic disease ISO RGD:1319314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12236970 PCBP2 poly(rC) binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12237004 ENOPH1 enolase-phosphatase 1 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1603616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 12237004 ENOPH1 enolase-phosphatase 1 gene DOID:10316 pneumoconiosis ISO RGD:1603616 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 12237004 ENOPH1 enolase-phosphatase 1 gene DOID:630 genetic disease ISO RGD:1603616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237004 ENOPH1 enolase-phosphatase 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1603616 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12237017 LOC478678 IQCJ-SCHIP1 readthrough transcript protein gene DOID:630 genetic disease ISO RGD:5013858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237044 MARCHF9 membrane associated ring-CH-type finger 9 gene DOID:630 genetic disease ISO RGD:1351043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237044 MARCHF9 membrane associated ring-CH-type finger 9 gene DOID:6846 familial melanoma ISO RGD:1351043 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 12237051 TBX18 T-box transcription factor 18 gene DOID:0080205 CAKUT ISO RGD:1350500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:26235987|PMID:30143558 12237051 TBX18 T-box transcription factor 18 gene DOID:0080207 CAKUT2 ISO RGD:1350500 D RGD:7240710 20180130 OMIM 12237051 TBX18 T-box transcription factor 18 gene DOID:0080207 CAKUT2 ISO RGD:1350500 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction PMID:25741868|PMID:25741890|PMID:26235987|PMID:28492532|PMID:30143558 12237051 TBX18 T-box transcription factor 18 gene DOID:630 genetic disease ISO RGD:1350500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12237051 TBX18 T-box transcription factor 18 gene DOID:784 chronic kidney disease ISO RGD:1350500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 12237063 ARID5A AT-rich interaction domain 5A gene DOID:1059 intellectual disability ISO RGD:1322287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12237063 ARID5A AT-rich interaction domain 5A gene DOID:5419 schizophrenia ISO RGD:1322287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12237063 ARID5A AT-rich interaction domain 5A gene DOID:630 genetic disease ISO RGD:1322287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237076 ZNF579 zinc finger protein 579 gene DOID:630 genetic disease ISO RGD:1318265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237082 GPR87 G protein-coupled receptor 87 gene DOID:0050579 glycogen storage disease XV ISO RGD:1317287 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12237082 GPR87 G protein-coupled receptor 87 gene DOID:630 genetic disease ISO RGD:1317287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237092 GGT5 gamma-glutamyltransferase 5 gene DOID:1826 epilepsy ISO RGD:733414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12237092 GGT5 gamma-glutamyltransferase 5 gene DOID:5419 schizophrenia ISO RGD:733414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12237092 GGT5 gamma-glutamyltransferase 5 gene DOID:630 genetic disease ISO RGD:733414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237092 GGT5 gamma-glutamyltransferase 5 gene DOID:9005172 Lung Neoplasms ISO RGD:2684 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:9374738|REF_RGD_ID:69846 12237108 TSPYL5 TSPY like 5 gene DOID:630 genetic disease ISO RGD:1322624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237114 MBOAT1 membrane bound O-acyltransferase domain containing 1 gene DOID:13580 cholestasis ISO RGD:1322766 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12237114 MBOAT1 membrane bound O-acyltransferase domain containing 1 gene DOID:630 genetic disease ISO RGD:1322766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237157 RABEP2 rabaptin, RAB GTPase binding effector protein 2 gene DOID:0050692 Brody myopathy ISO RGD:1344154 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brody myopathy PMID:28492532 12237157 RABEP2 rabaptin, RAB GTPase binding effector protein 2 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1344154 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 12237157 RABEP2 rabaptin, RAB GTPase binding effector protein 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 12237157 RABEP2 rabaptin, RAB GTPase binding effector protein 2 gene DOID:2661 myoepithelioma ISO RGD:1344154 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12237157 RABEP2 rabaptin, RAB GTPase binding effector protein 2 gene DOID:5419 schizophrenia ISO RGD:1344154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12237157 RABEP2 rabaptin, RAB GTPase binding effector protein 2 gene DOID:630 genetic disease ISO RGD:1344154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237157 RABEP2 rabaptin, RAB GTPase binding effector protein 2 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1344154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 12237174 ZFHX2 zinc finger homeobox 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1351762 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12237174 ZFHX2 zinc finger homeobox 2 gene DOID:0081075 Marsili syndrome ISO RGD:1351762 D RGD:7240710 20200311 OMIM 12237174 ZFHX2 zinc finger homeobox 2 gene DOID:0081075 Marsili syndrome ISO RGD:1351762 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal dominant PMID:25741868|PMID:29253101 12237174 ZFHX2 zinc finger homeobox 2 gene DOID:630 genetic disease ISO RGD:1351762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237174 ZFHX2 zinc finger homeobox 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1351762 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12237174 ZFHX2 zinc finger homeobox 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1351762 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12237208 GMNC geminin coiled-coil domain containing gene DOID:5419 schizophrenia ISO RGD:5455041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12237208 GMNC geminin coiled-coil domain containing gene DOID:630 genetic disease ISO RGD:5455041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237216 C37H2orf66 chromosome 37 C2orf66 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12237235 CAMKK1 calcium/calmodulin dependent protein kinase kinase 1 gene DOID:3613 Canavan disease ISO RGD:1349409 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:12638939|PMID:19932039|PMID:28492532 12237235 CAMKK1 calcium/calmodulin dependent protein kinase kinase 1 gene DOID:630 genetic disease ISO RGD:1349409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237235 CAMKK1 calcium/calmodulin dependent protein kinase kinase 1 gene DOID:863 nervous system disease ISO RGD:1349409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 12237255 PARPBP PARP1 binding protein gene DOID:630 genetic disease ISO RGD:1605996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237283 KAT6A lysine acetyltransferase 6A gene DOID:0050888 syndromic intellectual disability ISO RGD:1312590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25728777 12237283 KAT6A lysine acetyltransferase 6A gene DOID:0050902 medulloblastoma ISO RGD:1312590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 12237283 KAT6A lysine acetyltransferase 6A gene DOID:0060041 autism spectrum disorder ISO RGD:1312590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930 12237283 KAT6A lysine acetyltransferase 6A gene DOID:0070062 Arboleda-Tham syndrome ISO RGD:1312590 D RGD:7240710 20180130 OMIM 12237283 KAT6A lysine acetyltransferase 6A gene DOID:0070062 Arboleda-Tham syndrome ISO RGD:1312590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ClinVar Annotator: match by term: KAT6A syndrome PMID:17374998|PMID:23431171|PMID:25728775|PMID:25728777|PMID:25741868|PMID:26938784|PMID:27133397|PMID:28492532|PMID:30245513|PMID:31292255|PMID:32041641|PMID:33318932|PMID:34748993 12237283 KAT6A lysine acetyltransferase 6A gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1312590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12237283 KAT6A lysine acetyltransferase 6A gene DOID:0090039 torsion dystonia 6 ISO RGD:1312590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 12237283 KAT6A lysine acetyltransferase 6A gene DOID:0111959 immunodeficiency 15B ISO RGD:1312590 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 12237283 KAT6A lysine acetyltransferase 6A gene DOID:0112018 non-syndromic X-linked intellectual disability 104 ISO RGD:1312590 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 PMID:25741868|PMID:28492532 12237283 KAT6A lysine acetyltransferase 6A gene DOID:1059 intellectual disability ISO RGD:1312590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12237283 KAT6A lysine acetyltransferase 6A gene DOID:11198 DiGeorge syndrome ISO RGD:1312591 D RGD:9068941 20200609 RGD PMID:22921202|REF_RGD_ID:9590333 12237283 KAT6A lysine acetyltransferase 6A gene DOID:11198 DiGeorge syndrome ISO RGD:1312591 D RGD:9068941 20220825 MouseDO OMIM:188400 12237283 KAT6A lysine acetyltransferase 6A gene DOID:630 genetic disease ISO RGD:1312590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28135719|PMID:28492532|PMID:30245513|PMID:32041641 12237283 KAT6A lysine acetyltransferase 6A gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1304892 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:17083329|REF_RGD_ID:2312274 12237283 KAT6A lysine acetyltransferase 6A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 12237283 KAT6A lysine acetyltransferase 6A gene DOID:9002789 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE ISO RGD:1312590 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE PMID:25741868|PMID:28492532 12237283 KAT6A lysine acetyltransferase 6A gene DOID:9003879 Vein of Galen Aneurysm ISO RGD:1312590 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galen vein aneurysm PMID:30578106 12237283 KAT6A lysine acetyltransferase 6A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12237283 KAT6A lysine acetyltransferase 6A gene DOID:9008086 Developmental Disabilities ISO RGD:1312590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12237283 KAT6A lysine acetyltransferase 6A gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1312590 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:30245513|PMID:31292255 12237283 KAT6A lysine acetyltransferase 6A gene DOID:9008939 Breast Neoplasms severity ISO RGD:1312590 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:25220592|REF_RGD_ID:9590335 12237283 KAT6A lysine acetyltransferase 6A gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1312590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 12237283 KAT6A lysine acetyltransferase 6A gene DOID:9119 acute myeloid leukemia ISO RGD:1312590 D RGD:9068941 20200609 RGD human gene in a mouse model;DNA:translocation:exon PMID:12676584|REF_RGD_ID:9590334 12237313 NEK5 NIMA related kinase 5 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1344374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12237313 NEK5 NIMA related kinase 5 gene DOID:1059 intellectual disability ISO RGD:1344374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12237313 NEK5 NIMA related kinase 5 gene DOID:630 genetic disease ISO RGD:1344374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237333 OR13C4 olfactory receptor family 13 subfamily C member 4 gene DOID:630 genetic disease ISO RGD:1344868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237337 DTX3 deltex E3 ubiquitin ligase 3 gene DOID:607 paraplegia ISO RGD:1347578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12237337 DTX3 deltex E3 ubiquitin ligase 3 gene DOID:630 genetic disease ISO RGD:1347578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237337 DTX3 deltex E3 ubiquitin ligase 3 gene DOID:6846 familial melanoma ISO RGD:1347578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 12237337 DTX3 deltex E3 ubiquitin ligase 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1347578 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 12237343 KLHL9 kelch like family member 9 gene DOID:5419 schizophrenia ISO RGD:1347061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12237343 KLHL9 kelch like family member 9 gene DOID:630 genetic disease ISO RGD:1347061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12237349 FNDC9 fibronectin type III domain containing 9 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1606861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 12237349 FNDC9 fibronectin type III domain containing 9 gene DOID:630 genetic disease ISO RGD:1606861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237355 ARPC3 actin related protein 2/3 complex subunit 3 gene DOID:14330 Parkinson's disease treatment ISO RGD:1311985 D RGD:9068941 20200609 RGD PMID:20713051|REF_RGD_ID:11049454 12237355 ARPC3 actin related protein 2/3 complex subunit 3 gene DOID:9351 diabetes mellitus ISO RGD:1323728 D RGD:9068941 20200609 RGD associated with Obesity, Morbid;mRNA:decreased expression:omentum, adipose tissue (human) PMID:26504501|REF_RGD_ID:11049459 12237369 MEIKIN meiotic kinetochore factor gene DOID:5419 schizophrenia ISO RGD:9685644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12237393 MIR30C-2 microRNA mir-30c-2 gene DOID:5082 liver cirrhosis ISO RGD:1348464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12237396 MINAR2 membrane integral NOTCH2 associated receptor 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:2291767 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12237396 MINAR2 membrane integral NOTCH2 associated receptor 2 gene DOID:14330 Parkinson's disease ISO RGD:1323760 D RGD:9068941 20220825 MouseDO 12237396 MINAR2 membrane integral NOTCH2 associated receptor 2 gene DOID:9000161 Autosomal Recessive Nonsyndromic Deafness 120 ISO RGD:2291767 D RGD:7240710 20230215 OMIM 12237396 MINAR2 membrane integral NOTCH2 associated receptor 2 gene DOID:9000161 Autosomal Recessive Nonsyndromic Deafness 120 ISO RGD:2291767 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 120 PMID:35727972 12237396 MINAR2 membrane integral NOTCH2 associated receptor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2291767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12237396 MINAR2 membrane integral NOTCH2 associated receptor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2291767 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12237435 LOC102153882 NLR family CARD domain-containing protein 4 gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1614838 D RGD:9068941 20220825 MouseDO OMIM:616115 12237451 MYZAP myocardial zonula adherens protein gene DOID:12930 dilated cardiomyopathy ISO RGD:5509958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy PMID:25741868 12237451 MYZAP myocardial zonula adherens protein gene DOID:2717 Bloom syndrome ISO RGD:5509958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12237451 MYZAP myocardial zonula adherens protein gene DOID:630 genetic disease ISO RGD:5509958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237451 MYZAP myocardial zonula adherens protein gene DOID:676 juvenile rheumatoid arthritis ISO RGD:5509958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12237451 MYZAP myocardial zonula adherens protein gene DOID:9256 colorectal cancer ISO RGD:5509958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12237494 RABAC1 Rab acceptor 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12237494 RABAC1 Rab acceptor 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12237494 RABAC1 Rab acceptor 1 gene DOID:2340 craniosynostosis ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:28492532 12237494 RABAC1 Rab acceptor 1 gene DOID:5419 schizophrenia ISO RGD:736141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12237494 RABAC1 Rab acceptor 1 gene DOID:630 genetic disease ISO RGD:736141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237494 RABAC1 Rab acceptor 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12237494 RABAC1 Rab acceptor 1 gene DOID:9269 maple syrup urine disease ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12237503 QTRT1 queuine tRNA-ribosyltransferase catalytic subunit 1 gene DOID:630 genetic disease ISO RGD:732681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237517 FSIP1 fibrous sheath interacting protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1315740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12237517 FSIP1 fibrous sheath interacting protein 1 gene DOID:630 genetic disease ISO RGD:1315740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237517 FSIP1 fibrous sheath interacting protein 1 gene DOID:9256 colorectal cancer ISO RGD:1315740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12237540 ZCCHC4 zinc finger CCHC-type containing 4 gene DOID:630 genetic disease ISO RGD:1322864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237559 ZDHHC4 zinc finger DHHC-type palmitoyltransferase 4 gene DOID:630 genetic disease ISO RGD:1318128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237575 P4HB prolyl 4-hydroxylase subunit beta gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:733481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 12237575 P4HB prolyl 4-hydroxylase subunit beta gene DOID:0060438 Cole-Carpenter syndrome ISO RGD:733481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cole-Carpenter syndrome PMID:25741868 12237575 P4HB prolyl 4-hydroxylase subunit beta gene DOID:11476 osteoporosis ISO RGD:733481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12237575 P4HB prolyl 4-hydroxylase subunit beta gene DOID:630 genetic disease ISO RGD:733481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12237575 P4HB prolyl 4-hydroxylase subunit beta gene DOID:9002304 Prostatic Neoplasms ISO RGD:733481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12237575 P4HB prolyl 4-hydroxylase subunit beta gene DOID:9007102 Myocardial Ischemia ISO RGD:733481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12237575 P4HB prolyl 4-hydroxylase subunit beta gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12237575 P4HB prolyl 4-hydroxylase subunit beta gene DOID:9009043 Cole-Carpenter Syndrome 1 ISO RGD:733481 D RGD:7240710 20180130 OMIM 12237575 P4HB prolyl 4-hydroxylase subunit beta gene DOID:9009043 Cole-Carpenter Syndrome 1 ISO RGD:733481 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 PMID:25683117|PMID:25741868|PMID:28492532 12237590 CAB39L calcium binding protein 39 like gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1319011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12237590 CAB39L calcium binding protein 39 like gene DOID:1059 intellectual disability ISO RGD:1319011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12237590 CAB39L calcium binding protein 39 like gene DOID:630 genetic disease ISO RGD:1319011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237623 MTUS2 microtubule associated scaffold protein 2 gene DOID:630 genetic disease ISO RGD:1346037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237667 PDLIM2 PDZ and LIM domain 2 gene DOID:630 genetic disease ISO RGD:1345506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237667 PDLIM2 PDZ and LIM domain 2 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1345506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12237699 CLCNKA chloride voltage-gated channel Ka gene DOID:0050450 Gitelman syndrome ISO RGD:736095 D RGD:9068941 20200609 RGD PMID:11102542|REF_RGD_ID:1300379 12237699 CLCNKA chloride voltage-gated channel Ka gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736095 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12237699 CLCNKA chloride voltage-gated channel Ka gene DOID:0080130 mitochondrial DNA depletion syndrome 12a ISO RGD:736095 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant PMID:21415153|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12237699 CLCNKA chloride voltage-gated channel Ka gene DOID:0110144 Bartter disease type 3 ISO RGD:736095 D RGD:7240710 20180130 OMIM 12237699 CLCNKA chloride voltage-gated channel Ka gene DOID:0110144 Bartter disease type 3 ISO RGD:736095 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bartter disease type 3 PMID:10831588|PMID:10906158|PMID:11102542|PMID:11734858|PMID:15531551|PMID:15875219|PMID:16902263|PMID:17185149|PMID:17622951|PMID:21415153|PMID:21631963|PMID:21865213|PMID:23703872|PMID:23991001|PMID:24033266|PMID:24058621|PMID:24271511|PMID:24830959|PMID:24965226|PMID:25326637|PMID:25525159|PMID:25741868|PMID:25810436|PMID:26467025|PMID:26920127|PMID:28288174|PMID:28381550|PMID:28492532|PMID:28555925|PMID:29254190|PMID:30773290|PMID:31115572|PMID:31672324|PMID:31690835|PMID:31803959|PMID:31834604|PMID:32576985|PMID:32857947|PMID:33532864|PMID:9326936 12237699 CLCNKA chloride voltage-gated channel Ka gene DOID:0110146 Bartter disease type 4b ISO RGD:736095 D RGD:7240710 20180130 OMIM 12237699 CLCNKA chloride voltage-gated channel Ka gene DOID:0110146 Bartter disease type 4b ISO RGD:736095 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bartter disease type 4B PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12237699 CLCNKA chloride voltage-gated channel Ka gene DOID:10763 hypertension ISO RGD:736095 D RGD:9068941 20200609 RGD DNA:polymorphism:T481S PMID:15148291|REF_RGD_ID:1600684 12237699 CLCNKA chloride voltage-gated channel Ka gene DOID:10763 hypertension no_association ISO RGD:736095 D RGD:9068941 20200609 RGD DNA:polymorphism:T481S PMID:16003175|REF_RGD_ID:1600683 12237699 CLCNKA chloride voltage-gated channel Ka gene DOID:445 Bartter disease ISO RGD:736095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10561751 12237699 CLCNKA chloride voltage-gated channel Ka gene DOID:445 Bartter disease ISO RGD:736096 D RGD:9068941 20220825 MouseDO 12237699 CLCNKA chloride voltage-gated channel Ka gene DOID:576 proteinuria ISO RGD:736095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:24830959|PMID:25741868|PMID:26920127|PMID:28381550|PMID:28492532|PMID:29254190 12237699 CLCNKA chloride voltage-gated channel Ka gene DOID:630 genetic disease ISO RGD:736095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12237699 CLCNKA chloride voltage-gated channel Ka gene DOID:9001601 Familial Focal Epilepsy, with Variable Foci 1 ISO RGD:736095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 1 PMID:25741868|PMID:30773290 12237699 CLCNKA chloride voltage-gated channel Ka gene DOID:9007758 Bartter Syndrome Type 3, with Hypocalciuria ISO RGD:736095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria PMID:15531551|PMID:16902263|PMID:17622951|PMID:24830959|PMID:24965226|PMID:25741868|PMID:26920127|PMID:28381550|PMID:28492532|PMID:29254190 12237723 DNAJB14 DnaJ heat shock protein family (Hsp40) member B14 gene DOID:630 genetic disease ISO RGD:1605332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237735 MFSD1 major facilitator superfamily domain containing 1 gene DOID:630 genetic disease ISO RGD:1346472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237755 PPP1R9B protein phosphatase 1 regulatory subunit 9B gene DOID:0050127 sinusitis ISO RGD:733635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18391768 12237755 PPP1R9B protein phosphatase 1 regulatory subunit 9B gene DOID:0060058 lymphoma susceptibility ISO RGD:1552611 D RGD:9068941 20200609 RGD PMID:21670604|REF_RGD_ID:10043812 12237755 PPP1R9B protein phosphatase 1 regulatory subunit 9B gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:733635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:23949819|PMID:25944380|PMID:26478226|PMID:28492532|PMID:7942841|PMID:9295084|PMID:9443882 12237755 PPP1R9B protein phosphatase 1 regulatory subunit 9B gene DOID:10652 Alzheimer's disease ISO RGD:1552611 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (mouse) PMID:23764848|REF_RGD_ID:10043802 12237755 PPP1R9B protein phosphatase 1 regulatory subunit 9B gene DOID:10652 Alzheimer's disease severity ISO RGD:733635 D RGD:9068941 20200609 RGD protein:decreased expression:brain, synaptosome (human) PMID:23764848|REF_RGD_ID:10043802 12237755 PPP1R9B protein phosphatase 1 regulatory subunit 9B gene DOID:14330 Parkinson's disease ISO RGD:632281 D RGD:9068941 20200609 RGD protein:altered localization:striate nucleus (rat) PMID:18372251|REF_RGD_ID:10043801 12237755 PPP1R9B protein phosphatase 1 regulatory subunit 9B gene DOID:5419 schizophrenia ISO RGD:733635 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampal formation (human) PMID:15465982|REF_RGD_ID:9999381 12237755 PPP1R9B protein phosphatase 1 regulatory subunit 9B gene DOID:630 genetic disease ISO RGD:733635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237755 PPP1R9B protein phosphatase 1 regulatory subunit 9B gene DOID:684 hepatocellular carcinoma severity ISO RGD:733635 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver (human) PMID:23591196|REF_RGD_ID:10043803 12237755 PPP1R9B protein phosphatase 1 regulatory subunit 9B gene DOID:9001472 Nasal Polyps ISO RGD:733635 D RGD:9068941 20200609 RGD associated with Chronic Rhinosinusitis;mRNA:increased expression:mucosa of paranasal sinus (human) PMID:18391768|REF_RGD_ID:9999402 12237755 PPP1R9B protein phosphatase 1 regulatory subunit 9B gene DOID:9002775 Cognitive Dysfunction ISO RGD:632281 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus, insoluble fraction (rat) PMID:24069387|REF_RGD_ID:9999367 12237755 PPP1R9B protein phosphatase 1 regulatory subunit 9B gene DOID:9005172 Lung Neoplasms severity ISO RGD:733635 D RGD:9068941 20200609 RGD protein:decreased expression:lung (human) PMID:21598252|REF_RGD_ID:10043809 12237755 PPP1R9B protein phosphatase 1 regulatory subunit 9B gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:733635 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:colorectal carcinoma (human) PMID:23729363|REF_RGD_ID:9999401 12237769 SNRPA1 small nuclear ribonucleoprotein polypeptide A' gene DOID:630 genetic disease ISO RGD:1321959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237769 SNRPA1 small nuclear ribonucleoprotein polypeptide A' gene DOID:65 connective tissue disease ISO RGD:1321959 D RGD:9068941 20200609 RGD PMID:2968364|REF_RGD_ID:10448928 12237782 OPALIN oligodendrocytic myelin paranodal and inner loop protein gene DOID:630 genetic disease ISO RGD:1317163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237797 GINS2 GINS complex subunit 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1602113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12237797 GINS2 GINS complex subunit 2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1602113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12237797 GINS2 GINS complex subunit 2 gene DOID:630 genetic disease ISO RGD:1602113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237797 GINS2 GINS complex subunit 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1602113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12237806 SPINK2 serine peptidase inhibitor, Kazal type 2 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1349585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:28492532 12237806 SPINK2 serine peptidase inhibitor, Kazal type 2 gene DOID:0111930 spermatogenic failure 29 ISO RGD:1349585 D RGD:7240710 20190315 OMIM 12237806 SPINK2 serine peptidase inhibitor, Kazal type 2 gene DOID:0111930 spermatogenic failure 29 ISO RGD:1349585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 29 PMID:25741868|PMID:28554943 12237806 SPINK2 serine peptidase inhibitor, Kazal type 2 gene DOID:630 genetic disease ISO RGD:1349585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237816 U2AF2 U2 small nuclear RNA auxiliary factor 2 gene DOID:630 genetic disease ISO RGD:1321740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237816 U2AF2 U2 small nuclear RNA auxiliary factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 12237880 HSPB8 heat shock protein family B (small) member 8 gene DOID:0110174 Charcot-Marie-Tooth disease axonal type 2L ISO RGD:1346187 D RGD:7240710 20180130 OMIM 12237880 HSPB8 heat shock protein family B (small) member 8 gene DOID:0110174 Charcot-Marie-Tooth disease axonal type 2L ISO RGD:1346187 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2L PMID:15021985|PMID:15122253|PMID:15565283|PMID:17344846|PMID:20157854|PMID:20538880|PMID:20858900|PMID:21985219|PMID:23389032|PMID:25206829|PMID:25741868|PMID:26467025|PMID:26718575|PMID:26986878|PMID:28251916|PMID:28492532|PMID:28501893|PMID:28747872|PMID:28780615|PMID:32376792 12237880 HSPB8 heat shock protein family B (small) member 8 gene DOID:0111208 distal hereditary motor neuronopathy type 2A ISO RGD:1346187 D RGD:7240710 20180130 OMIM 12237880 HSPB8 heat shock protein family B (small) member 8 gene DOID:0111208 distal hereditary motor neuronopathy type 2A ISO RGD:1346187 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2A PMID:15122253|PMID:1517763|PMID:17344846|PMID:20538880|PMID:21985219|PMID:25741868|PMID:26467025|PMID:26718575|PMID:26986878|PMID:28251916|PMID:28492532|PMID:32376792 12237880 HSPB8 heat shock protein family B (small) member 8 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1346187 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:15021985|PMID:15122253|PMID:15565283|PMID:20157854|PMID:20538880|PMID:20858900|PMID:21985219|PMID:23389032|PMID:23796487|PMID:25206829|PMID:26467025|PMID:28747872|PMID:28780615 12237880 HSPB8 heat shock protein family B (small) member 8 gene DOID:11720 distal myopathy ISO RGD:1346187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal myopathy PMID:25741868|PMID:26976520|PMID:28501893|PMID:29029362 12237880 HSPB8 heat shock protein family B (small) member 8 gene DOID:630 genetic disease ISO RGD:1346187 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17344846|PMID:25741868|PMID:26467025|PMID:26718575|PMID:28492532|PMID:32376792 12237885 APOH apolipoprotein H gene DOID:0060903 thrombosis ISO RGD:1310625 D RGD:9068941 20200609 RGD PMID:24642748|REF_RGD_ID:10054118 12237885 APOH apolipoprotein H gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1321637 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 12237885 APOH apolipoprotein H gene DOID:2349 arteriosclerosis ISO RGD:1321637 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:6613192|REF_RGD_ID:2313992 12237885 APOH apolipoprotein H gene DOID:2988 antiphospholipid syndrome ISO RGD:1321637 D RGD:9068941 20200609 RGD PMID:24642748|REF_RGD_ID:10054118 12237885 APOH apolipoprotein H gene DOID:341 peripheral vascular disease ISO RGD:1321637 D RGD:9068941 20200609 RGD PMID:17626983|REF_RGD_ID:2313983 12237885 APOH apolipoprotein H gene DOID:4449 macular retinal edema ISO RGD:1321637 D RGD:9068941 20200609 RGD associated with Proliferative Diabetic Retinopathy;protein:decreased expression:vitreous: PMID:16080911|REF_RGD_ID:2315548 12237885 APOH apolipoprotein H gene DOID:5844 myocardial infarction ISO RGD:1310625 D RGD:9068941 20200609 RGD PMID:12826288|REF_RGD_ID:10054111 12237885 APOH apolipoprotein H gene DOID:5844 myocardial infarction ISO RGD:1321637 D RGD:9068941 20200609 RGD PMID:15322656|REF_RGD_ID:2313985 12237885 APOH apolipoprotein H gene DOID:630 genetic disease ISO RGD:1321637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237885 APOH apolipoprotein H gene DOID:8947 diabetic retinopathy ISO RGD:1321637 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:18695102|REF_RGD_ID:2313982 12237885 APOH apolipoprotein H gene DOID:9000888 Pregnancy in Diabetics ISO RGD:1321637 D RGD:9068941 20200609 RGD PMID:11795690|REF_RGD_ID:2313988 12237885 APOH apolipoprotein H gene DOID:9002165 Diabetic Nephropathies ISO RGD:1321637 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum PMID:11302005|REF_RGD_ID:2313989 12237885 APOH apolipoprotein H gene DOID:9002231 Fetal Growth Retardation ISO RGD:1321638 D RGD:9068941 20200609 RGD PMID:24642748|REF_RGD_ID:10054118 12237885 APOH apolipoprotein H gene DOID:9003002 Fetal Resorption ISO RGD:1321638 D RGD:9068941 20200609 RGD PMID:24642748|REF_RGD_ID:10054118 12237885 APOH apolipoprotein H gene DOID:9007096 Stroke ISO RGD:1321637 D RGD:9068941 20200609 RGD PMID:14595478|REF_RGD_ID:2313986 12237885 APOH apolipoprotein H gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1310625 D RGD:9068941 20200609 RGD mRNA:increased expression:plasma: PMID:23288050|REF_RGD_ID:10054107 12237885 APOH apolipoprotein H gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321637 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 12237885 APOH apolipoprotein H gene DOID:9007571 Hyperlipoproteinemias ISO RGD:1321637 D RGD:9068941 20200609 RGD PMID:6613192|REF_RGD_ID:2313992 12237885 APOH apolipoprotein H gene DOID:9351 diabetes mellitus ISO RGD:1321637 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:18695102|REF_RGD_ID:2313982 12237885 APOH apolipoprotein H gene DOID:9351 diabetes mellitus ISO RGD:1321637 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:9377806|REF_RGD_ID:2313991 12237885 APOH apolipoprotein H gene DOID:9352 type 2 diabetes mellitus ISO RGD:1321637 D RGD:9068941 20200609 RGD PMID:16126948|REF_RGD_ID:2313984 12237885 APOH apolipoprotein H gene DOID:9744 type 1 diabetes mellitus ISO RGD:1321638 D RGD:9068941 20200609 RGD PMID:9472678|REF_RGD_ID:2313990 12237897 RTCB RNA 2',3'-cyclic phosphate and 5'-OH ligase gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1605075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 12237897 RTCB RNA 2',3'-cyclic phosphate and 5'-OH ligase gene DOID:630 genetic disease ISO RGD:1605075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237897 RTCB RNA 2',3'-cyclic phosphate and 5'-OH ligase gene DOID:9001750 Glucose-Galactose Malabsorption ISO RGD:1605075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption PMID:28492532 12237913 TDRD7 tudor domain containing 7 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1350621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 12237913 TDRD7 tudor domain containing 7 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1350621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 12237913 TDRD7 tudor domain containing 7 gene DOID:0110247 cataract 36 ISO RGD:1350621 D RGD:7240710 20180130 OMIM 12237913 TDRD7 tudor domain containing 7 gene DOID:0110247 cataract 36 ISO RGD:1350621 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cataract 36 PMID:25741868|PMID:28418495|PMID:28492532 12237913 TDRD7 tudor domain containing 7 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1350621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 12237913 TDRD7 tudor domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1350621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12237913 TDRD7 tudor domain containing 7 gene DOID:12336 male infertility ISO RGD:1350621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21436445 12237913 TDRD7 tudor domain containing 7 gene DOID:12712 nephronophthisis ISO RGD:1350621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 12237913 TDRD7 tudor domain containing 7 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1350621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 12237913 TDRD7 tudor domain containing 7 gene DOID:1686 glaucoma ISO RGD:1350621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21436445 12237913 TDRD7 tudor domain containing 7 gene DOID:630 genetic disease ISO RGD:1350621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12237913 TDRD7 tudor domain containing 7 gene DOID:83 cataract ISO RGD:1350621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract 12237913 TDRD7 tudor domain containing 7 gene DOID:9001488 Human Influenza ISO RGD:1350621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12237913 TDRD7 tudor domain containing 7 gene DOID:9001793 Generalized Epilepsy ISO RGD:1350621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 12237939 PRSS38 serine protease 38 gene DOID:1540 parathyroid carcinoma ISO RGD:1606403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12237939 PRSS38 serine protease 38 gene DOID:630 genetic disease ISO RGD:1606403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237939 PRSS38 serine protease 38 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12237947 CATSPER1 cation channel sperm associated 1 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1321252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 12237947 CATSPER1 cation channel sperm associated 1 gene DOID:0070173 spermatogenic failure 7 ISO RGD:1321252 D RGD:7240710 20180130 OMIM 12237947 CATSPER1 cation channel sperm associated 1 gene DOID:0070173 spermatogenic failure 7 ISO RGD:1321252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 7 PMID:19344877|PMID:20301780|PMID:21255775|PMID:24442342|PMID:25741868|PMID:28492532 12237947 CATSPER1 cation channel sperm associated 1 gene DOID:1059 intellectual disability ISO RGD:1321252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12237947 CATSPER1 cation channel sperm associated 1 gene DOID:12336 male infertility ISO RGD:1321252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 12237947 CATSPER1 cation channel sperm associated 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1321252 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12237947 CATSPER1 cation channel sperm associated 1 gene DOID:2746 glycogen storage disease V ISO RGD:1321252 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12237947 CATSPER1 cation channel sperm associated 1 gene DOID:630 genetic disease ISO RGD:1321252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237947 CATSPER1 cation channel sperm associated 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1321252 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12237947 CATSPER1 cation channel sperm associated 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1321252 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12237967 MAN1A1 mannosidase alpha class 1A member 1 gene DOID:1059 intellectual disability ISO RGD:1322054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 12237967 MAN1A1 mannosidase alpha class 1A member 1 gene DOID:10907 microcephaly ISO RGD:1322054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 12237967 MAN1A1 mannosidase alpha class 1A member 1 gene DOID:1826 epilepsy ISO RGD:1322054 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12237967 MAN1A1 mannosidase alpha class 1A member 1 gene DOID:630 genetic disease ISO RGD:1322054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12237967 MAN1A1 mannosidase alpha class 1A member 1 gene DOID:9000495 Tremor ISO RGD:1322054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12237983 ATP13A1 ATPase 13A1 gene DOID:630 genetic disease ISO RGD:1346886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238013 ITM2B integral membrane protein 2B gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1353059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12238013 ITM2B integral membrane protein 2B gene DOID:0070029 ITM2B-related cerebral amyloid angiopathy 1 ISO RGD:1353059 D RGD:7240710 20180130 OMIM 12238013 ITM2B integral membrane protein 2B gene DOID:0070029 ITM2B-related cerebral amyloid angiopathy 1 ISO RGD:1353059 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Presenile dementia with spastic ataxia PMID:10391242|PMID:21610757|PMID:25741868|PMID:28492532|PMID:31719132 12238013 ITM2B integral membrane protein 2B gene DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 ISO RGD:1353059 D RGD:7240710 20180130 OMIM 12238013 ITM2B integral membrane protein 2B gene DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 ISO RGD:1353059 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica PMID:10781099|PMID:25741868|PMID:28492532|PMID:31719132|PMID:5457846 12238013 ITM2B integral membrane protein 2B gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1353059 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:17301081|PMID:26475597|PMID:28492532 12238013 ITM2B integral membrane protein 2B gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1353059 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:25741868 12238013 ITM2B integral membrane protein 2B gene DOID:1059 intellectual disability ISO RGD:1353059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12238013 ITM2B integral membrane protein 2B gene DOID:10763 hypertension ISO RGD:1353059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 12238013 ITM2B integral membrane protein 2B gene DOID:630 genetic disease ISO RGD:1353059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12238013 ITM2B integral membrane protein 2B gene DOID:768 retinoblastoma ISO RGD:1353059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:14722923|PMID:15877282|PMID:17096365|PMID:17301081|PMID:22180099|PMID:26475597|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 12238013 ITM2B integral membrane protein 2B gene DOID:768 retinoblastoma ISO RGD:1353059 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:14722923|PMID:17096365|PMID:22180099|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 12238013 ITM2B integral membrane protein 2B gene DOID:8725 vascular dementia ISO RGD:1353059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:33268848 12238013 ITM2B integral membrane protein 2B gene DOID:9004745 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES ISO RGD:1353059 D RGD:7240710 20180130 OMIM 12238013 ITM2B integral membrane protein 2B gene DOID:9004745 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES ISO RGD:1353059 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities PMID:24026677|PMID:25741868|PMID:28492532|PMID:31719132 12238013 ITM2B integral membrane protein 2B gene DOID:9246 cerebral amyloid angiopathy ISO RGD:1557698 D RGD:9068941 20220825 MouseDO 12238022 SLCO5A1 solute carrier organic anion transporter family member 5A1 gene DOID:630 genetic disease ISO RGD:1316144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12238036 ATG3 autophagy related 3 gene DOID:630 genetic disease ISO RGD:1353416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238052 PPP1R2 protein phosphatase 1 regulatory inhibitor subunit 2 gene DOID:630 genetic disease ISO RGD:1343622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238062 GALNT13 polypeptide N-acetylgalactosaminyltransferase 13 gene DOID:630 genetic disease ISO RGD:1343318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238062 GALNT13 polypeptide N-acetylgalactosaminyltransferase 13 gene DOID:9005369 Hepatomegaly ISO RGD:1343318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12238079 ZNF248 zinc finger protein 248 gene DOID:630 genetic disease ISO RGD:1349221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238103 ZNHIT1 zinc finger HIT-type containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12238103 ZNHIT1 zinc finger HIT-type containing 1 gene DOID:630 genetic disease ISO RGD:1318185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238112 NME2 non-metastatic cells 2, protein (NM23B) expressed in gene DOID:11054 urinary bladder cancer ISO RGD:1346564 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:7614395|REF_RGD_ID:2299071 12238112 NME2 non-metastatic cells 2, protein (NM23B) expressed in gene DOID:11132 prostatic hypertrophy ISO RGD:1346564 D RGD:9068941 20200609 RGD PMID:7693635|REF_RGD_ID:2299076 12238112 NME2 non-metastatic cells 2, protein (NM23B) expressed in gene DOID:2349 arteriosclerosis ISO RGD:1346564 D RGD:9068941 20200609 RGD protein:decreased expression:artery PMID:17272673|REF_RGD_ID:2299058 12238112 NME2 non-metastatic cells 2, protein (NM23B) expressed in gene DOID:2394 ovarian cancer ISO RGD:1346564 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:8519661|REF_RGD_ID:2299066 12238112 NME2 non-metastatic cells 2, protein (NM23B) expressed in gene DOID:3307 teratoma ISO RGD:1346564 D RGD:9068941 20200609 RGD DNA:deletion PMID:7518576|REF_RGD_ID:2299072 12238112 NME2 non-metastatic cells 2, protein (NM23B) expressed in gene DOID:4001 ovarian carcinoma ISO RGD:1346564 D RGD:9068941 20200609 RGD PMID:7907945|REF_RGD_ID:2299073 12238112 NME2 non-metastatic cells 2, protein (NM23B) expressed in gene DOID:6000 congestive heart failure ISO RGD:1346564 D RGD:9068941 20200609 RGD protein:increased expression:heart, left ventricle, sarcolemma (human) PMID:11121795|REF_RGD_ID:5132888 12238112 NME2 non-metastatic cells 2, protein (NM23B) expressed in gene DOID:8398 osteoarthritis ISO RGD:1346564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12238112 NME2 non-metastatic cells 2, protein (NM23B) expressed in gene DOID:9000081 Lymphatic Metastasis ISO RGD:1346564 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms; associated with Endometrial Neoplasms PMID:8855975|REF_RGD_ID:2299062 12238112 NME2 non-metastatic cells 2, protein (NM23B) expressed in gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1346564 D RGD:9068941 20200609 RGD mRNA:increased expression:testis PMID:9334657|REF_RGD_ID:2299060 12238112 NME2 non-metastatic cells 2, protein (NM23B) expressed in gene DOID:9000965 Neoplasm Metastasis resistance ISO RGD:619877 D RGD:9068941 20200609 RGD PMID:8621239|REF_RGD_ID:2299081 12238112 NME2 non-metastatic cells 2, protein (NM23B) expressed in gene DOID:9002762 Ovarian Neoplasms ISO RGD:1346564 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15674352 12238112 NME2 non-metastatic cells 2, protein (NM23B) expressed in gene DOID:9003566 Mesothelioma ISO RGD:1346564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15920167 12238112 NME2 non-metastatic cells 2, protein (NM23B) expressed in gene DOID:9004464 Skin Neoplasms ISO RGD:1552274 D RGD:9068941 20200609 RGD protein:increased expression:tumor (mouse) PMID:14623877|REF_RGD_ID:5132889 12238112 NME2 non-metastatic cells 2, protein (NM23B) expressed in gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12238112 NME2 non-metastatic cells 2, protein (NM23B) expressed in gene DOID:9008443 Colorectal Neoplasms ISO RGD:1346564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 12238124 E2F7 E2F transcription factor 7 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1321054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 12238124 E2F7 E2F transcription factor 7 gene DOID:630 genetic disease ISO RGD:1321054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238124 E2F7 E2F transcription factor 7 gene DOID:9000918 Disease Progression ISO RGD:1321054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 12238148 STEAP3 STEAP3 metalloreductase gene DOID:0080600 COVID-19 ISO RGD:1605372 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12238148 STEAP3 STEAP3 metalloreductase gene DOID:630 genetic disease ISO RGD:1605372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12238148 STEAP3 STEAP3 metalloreductase gene DOID:9001631 Hypochromic Microcytic Anemia with Iron Overload ISO RGD:1605372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12238148 STEAP3 STEAP3 metalloreductase gene DOID:9008190 Hypochromic Microcytic Anemia with Iron Overload 2 ISO RGD:1605372 D RGD:7240710 20180130 OMIM 12238148 STEAP3 STEAP3 metalloreductase gene DOID:9008190 Hypochromic Microcytic Anemia with Iron Overload 2 ISO RGD:1605372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypochromic microcytic anemia with iron overload 2 PMID:22031863 12238168 MEGF8 multiple EGF like domains 8 gene DOID:0050545 visceral heterotaxy ISO RGD:737435 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 12238168 MEGF8 multiple EGF like domains 8 gene DOID:0060234 Carpenter syndrome ISO RGD:737434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 12238168 MEGF8 multiple EGF like domains 8 gene DOID:1148 polydactyly ISO RGD:737434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:23063620|PMID:25741868|PMID:28914635|PMID:29168297 12238168 MEGF8 multiple EGF like domains 8 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:737434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12238168 MEGF8 multiple EGF like domains 8 gene DOID:1342 congenital hypoplastic anemia ISO RGD:737434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12238168 MEGF8 multiple EGF like domains 8 gene DOID:2340 craniosynostosis ISO RGD:737434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12238168 MEGF8 multiple EGF like domains 8 gene DOID:5419 schizophrenia ISO RGD:737434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12238168 MEGF8 multiple EGF like domains 8 gene DOID:630 genetic disease ISO RGD:737434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12238168 MEGF8 multiple EGF like domains 8 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:737434 D RGD:7240710 20180130 OMIM 12238168 MEGF8 multiple EGF like domains 8 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:737434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:16199547|PMID:17576681|PMID:23063620|PMID:25326635|PMID:25741868|PMID:28492532|PMID:29168297|PMID:9536098 12238168 MEGF8 multiple EGF like domains 8 gene DOID:9269 maple syrup urine disease ISO RGD:737434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12238213 NFIX nuclear factor I X gene DOID:0050858 Marshall-Smith syndrome ISO RGD:69161 D RGD:7240710 20180130 OMIM 12238213 NFIX nuclear factor I X gene DOID:0050858 Marshall-Smith syndrome ISO RGD:69161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome PMID:16086394|PMID:16199547|PMID:17576681|PMID:20673863|PMID:20949508|PMID:22301465|PMID:23495138|PMID:24924640|PMID:25118028|PMID:25356970|PMID:25640679|PMID:25736188|PMID:25741868|PMID:26193383|PMID:26200704|PMID:26927468|PMID:27688808|PMID:28333917|PMID:28475857|PMID:28492532|PMID:29142766|PMID:29184170|PMID:29897170|PMID:31036916|PMID:33767182|PMID:8910820|PMID:9536098|PMID:9717599 12238213 NFIX nuclear factor I X gene DOID:0050990 episodic ataxia type 2 ISO RGD:69161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532|PMID:29184170 12238213 NFIX nuclear factor I X gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:69161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 PMID:25741868 12238213 NFIX nuclear factor I X gene DOID:0080833 laryngomalacia ISO RGD:69161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital laryngomalacia PMID:25741868 12238213 NFIX nuclear factor I X gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:69161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12238213 NFIX nuclear factor I X gene DOID:0111254 glutaric acidemia I ISO RGD:69161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12238213 NFIX nuclear factor I X gene DOID:0112102 Sotos syndrome 2 ISO RGD:69161 D RGD:7240710 20180130 OMIM 12238213 NFIX nuclear factor I X gene DOID:0112102 Sotos syndrome 2 ISO RGD:69161 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malan overgrowth syndrome PMID:20673863|PMID:20949508|PMID:22301465|PMID:24088041|PMID:24375697|PMID:24924640|PMID:25118028|PMID:25356970|PMID:25590979|PMID:25741868|PMID:26193383|PMID:26633545|PMID:28475857|PMID:28492532|PMID:28708303|PMID:29897170|PMID:31036916|PMID:8910820 12238213 NFIX nuclear factor I X gene DOID:1059 intellectual disability ISO RGD:69161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12238213 NFIX nuclear factor I X gene DOID:13300 Scheuermann's disease ISO RGD:69162 D RGD:9068941 20220825 MouseDO OMIM:181440 12238213 NFIX nuclear factor I X gene DOID:3413 alpha-mannosidosis ISO RGD:69161 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12238213 NFIX nuclear factor I X gene DOID:630 genetic disease ISO RGD:69161 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20673863|PMID:22301465|PMID:25356970|PMID:25741868|PMID:26193383|PMID:28492532|PMID:29897170|PMID:33767182|PMID:8910820 12238213 NFIX nuclear factor I X gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:69161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12238245 DLG4 discs large MAGUK scaffold protein 4 gene DOID:0060041 autism spectrum disorder ISO RGD:68630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12238245 DLG4 discs large MAGUK scaffold protein 4 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:68630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:16199547|PMID:23169530|PMID:23480858|PMID:25741868|PMID:28492532|PMID:32581362|PMID:9973285 12238245 DLG4 discs large MAGUK scaffold protein 4 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:68630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 12238245 DLG4 discs large MAGUK scaffold protein 4 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:68630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 12238245 DLG4 discs large MAGUK scaffold protein 4 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:68630 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12238245 DLG4 discs large MAGUK scaffold protein 4 gene DOID:0112044 non-syndromic X-linked intellectual disability 98 ISO RGD:68630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98 PMID:25741868 12238245 DLG4 discs large MAGUK scaffold protein 4 gene DOID:1059 intellectual disability ISO RGD:68630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12238245 DLG4 discs large MAGUK scaffold protein 4 gene DOID:10652 Alzheimer's disease ISO RGD:68630 D RGD:9068941 20200609 RGD PMID:24156266|REF_RGD_ID:13792688 12238245 DLG4 discs large MAGUK scaffold protein 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:68630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12238245 DLG4 discs large MAGUK scaffold protein 4 gene DOID:12177 common variable immunodeficiency ISO RGD:68630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12238245 DLG4 discs large MAGUK scaffold protein 4 gene DOID:12858 Huntington's disease ISO RGD:68631 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex, synapse PMID:25568121|REF_RGD_ID:13432154 12238245 DLG4 discs large MAGUK scaffold protein 4 gene DOID:12858 Huntington's disease ISO RGD:68631 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex PMID:24728190|REF_RGD_ID:13432155 12238245 DLG4 discs large MAGUK scaffold protein 4 gene DOID:14330 Parkinson's disease ISO RGD:68424 D RGD:9068941 20200609 RGD protein:altered localization, decreased expression:striatum:redistribution from synapse to vesicles PMID:15703272|REF_RGD_ID:2306834 12238245 DLG4 discs large MAGUK scaffold protein 4 gene DOID:1928 Williams-Beuren syndrome ISO RGD:68630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20952458 12238245 DLG4 discs large MAGUK scaffold protein 4 gene DOID:1928 Williams-Beuren syndrome ISO RGD:68631 D RGD:9068941 20220825 MouseDO OMIM:194050 12238245 DLG4 discs large MAGUK scaffold protein 4 gene DOID:2729 dyskeratosis congenita ISO RGD:68630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12238245 DLG4 discs large MAGUK scaffold protein 4 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:68630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12238245 DLG4 discs large MAGUK scaffold protein 4 gene DOID:3328 temporal lobe epilepsy ISO RGD:68424 D RGD:9068941 20200609 RGD protein:decreased expression:forebrain, postsynaptic density PMID:11226670|REF_RGD_ID:5147998 12238245 DLG4 discs large MAGUK scaffold protein 4 gene DOID:630 genetic disease ISO RGD:68630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30504930|PMID:33597769 12238245 DLG4 discs large MAGUK scaffold protein 4 gene DOID:9000884 Rhabdomyolysis ISO RGD:68630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:32581362 12238245 DLG4 discs large MAGUK scaffold protein 4 gene DOID:9002211 Hyperalgesia ISO RGD:68424 D RGD:9068941 20200609 RGD associated with Diabetic neuropathies; PMID:20531396|REF_RGD_ID:7257680 12238245 DLG4 discs large MAGUK scaffold protein 4 gene DOID:9003710 Autosomal Dominant Intellectual Developmental Disorder 62 ISO RGD:68630 D RGD:7240710 20200318 OMIM 12238245 DLG4 discs large MAGUK scaffold protein 4 gene DOID:9003710 Autosomal Dominant Intellectual Developmental Disorder 62 ISO RGD:68630 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62 | ClinVar Annotator: match by term: Intellectual developmental disorder 62 PMID:16199547|PMID:25741868|PMID:26350515|PMID:27479843|PMID:27618451|PMID:28492532|PMID:29460436|PMID:33597769 12238245 DLG4 discs large MAGUK scaffold protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12238245 DLG4 discs large MAGUK scaffold protein 4 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:68630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:25741868|PMID:26350515|PMID:27479843|PMID:33597769 12238245 DLG4 discs large MAGUK scaffold protein 4 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:68630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:29460436|PMID:33597769 12238245 DLG4 discs large MAGUK scaffold protein 4 gene DOID:9008104 Cancer Pain ameliorates ISO RGD:68424 D RGD:9068941 20230401 RGD PMID:26738857|REF_RGD_ID:243048441 12238269 CHST4 carbohydrate sulfotransferase 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1321907 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12238269 CHST4 carbohydrate sulfotransferase 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1321907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12238269 CHST4 carbohydrate sulfotransferase 4 gene DOID:630 genetic disease ISO RGD:1321907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238282 LIMK1 LIM domain kinase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12238282 LIMK1 LIM domain kinase 1 gene DOID:10923 sickle cell anemia ISO RGD:732406 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12238282 LIMK1 LIM domain kinase 1 gene DOID:12849 autistic disorder ISO RGD:732406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12238282 LIMK1 LIM domain kinase 1 gene DOID:1928 Williams-Beuren syndrome ISO RGD:732406 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 12238282 LIMK1 LIM domain kinase 1 gene DOID:1929 supravalvular aortic stenosis ISO RGD:732406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740 12238282 LIMK1 LIM domain kinase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12238282 LIMK1 LIM domain kinase 1 gene DOID:5419 schizophrenia ISO RGD:732406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12238282 LIMK1 LIM domain kinase 1 gene DOID:630 genetic disease ISO RGD:732406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12238282 LIMK1 LIM domain kinase 1 gene DOID:8445 intestinal volvulus ISO RGD:732406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12238282 LIMK1 LIM domain kinase 1 gene DOID:9002189 High Myopia ISO RGD:732406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12238282 LIMK1 LIM domain kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12238282 LIMK1 LIM domain kinase 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:732406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12238302 ZKSCAN1 zinc finger with KRAB and SCAN domains 1 gene DOID:10283 prostate cancer ISO RGD:1347183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12238302 ZKSCAN1 zinc finger with KRAB and SCAN domains 1 gene DOID:1059 intellectual disability ISO RGD:1347183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12238302 ZKSCAN1 zinc finger with KRAB and SCAN domains 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12238302 ZKSCAN1 zinc finger with KRAB and SCAN domains 1 gene DOID:630 genetic disease ISO RGD:1347183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238350 NAGLU N-acetyl-alpha-glucosaminidase gene DOID:0050952 spastic ataxia ISO RGD:1351904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 12238350 NAGLU N-acetyl-alpha-glucosaminidase gene DOID:0110178 Charcot-Marie-Tooth disease axonal type 2V ISO RGD:1351904 D RGD:7240710 20180130 OMIM 12238350 NAGLU N-acetyl-alpha-glucosaminidase gene DOID:0110178 Charcot-Marie-Tooth disease axonal type 2V ISO RGD:1351904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2V PMID:10094189|PMID:20852935|PMID:22976768|PMID:25741868|PMID:25818867|PMID:28492532|PMID:29979746|PMID:33747789|PMID:8650226|PMID:9443875|PMID:9950362 12238350 NAGLU N-acetyl-alpha-glucosaminidase gene DOID:0111394 mucopolysaccharidosis type IIIB ISO RGD:1351904 D RGD:7240710 20191106 OMIM 12238350 NAGLU N-acetyl-alpha-glucosaminidase gene DOID:0111394 mucopolysaccharidosis type IIIB ISO RGD:1351904 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIB (Sanfilippo B) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B PMID:10094189|PMID:11068184|PMID:11153910|PMID:11286389|PMID:11668611|PMID:11793481|PMID:11836372|PMID:12202988|PMID:14984474|PMID:15300983|PMID:15933803|PMID:16151907|PMID:16199547|PMID:16447797|PMID:17576681|PMID:18218046|PMID:19046346|PMID:20040070|PMID:20138557|PMID:20852935|PMID:21204211|PMID:21685203|PMID:217121855|PMID:21712855|PMID:21910976|PMID:21937992|PMID:22002444|PMID:22908982|PMID:22976768|PMID:23084433|PMID:23100014|PMID:23380547|PMID:23430803|PMID:23661660|PMID:23667853|PMID:23840811|PMID:24314109|PMID:24347096|PMID:25256447|PMID:25466957|PMID:25520920|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25818867|PMID:26075876|PMID:26907177|PMID:27243974|PMID:27590925|PMID:28018442|PMID:28101780|PMID:28306536|PMID:28492532|PMID:28751108|PMID:28836185|PMID:28844463|PMID:29269699|PMID:29606097|PMID:29661560|PMID:29881562|PMID:29979746|PMID:30070758|PMID:30802506|PMID:30809705|PMID:30903511|PMID:31236806|PMID:31319225|PMID:31342580|PMID:31413257|PMID:31536183|PMID:31969655|PMID:32014045|PMID:32056211|PMID:32578945|PMID:32883051|PMID:33246910|PMID:33747789|PMID:33763395|PMID:34396902|PMID:8650226|PMID:9443875|PMID:9443878|PMID:9536098|PMID:9832037|PMID:9950362 12238350 NAGLU N-acetyl-alpha-glucosaminidase gene DOID:1059 intellectual disability ISO RGD:1351904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20852935|PMID:24314109|PMID:25741868|PMID:26075876|PMID:26907177|PMID:28492532|PMID:29606097|PMID:29979746|PMID:9443878 12238350 NAGLU N-acetyl-alpha-glucosaminidase gene DOID:10754 otitis media ISO RGD:1623263 D RGD:9068941 20220825 MouseDO OMIM:166760 12238350 NAGLU N-acetyl-alpha-glucosaminidase gene DOID:12798 mucopolysaccharidosis ISO RGD:1351904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis PMID:10094189|PMID:11068184|PMID:16151907|PMID:18218046|PMID:20040070|PMID:20852935|PMID:21204211|PMID:217121855|PMID:21712855|PMID:22976768|PMID:23084433|PMID:23667853|PMID:25256447|PMID:25520920|PMID:25741868|PMID:26907177|PMID:27590925|PMID:28306536|PMID:28492532|PMID:28751108|PMID:28836185|PMID:29661560|PMID:29979746|PMID:31413257|PMID:31536183|PMID:33747789|PMID:8650226|PMID:9443875|PMID:9832037|PMID:9950362 12238350 NAGLU N-acetyl-alpha-glucosaminidase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1351904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: N-acetyl-alpha-d-glucosaminidase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome PMID:10094189|PMID:14984474|PMID:15300983|PMID:15933803|PMID:18218046|PMID:20852935|PMID:21204211|PMID:21937992|PMID:22976768|PMID:23380547|PMID:23430803|PMID:25741868|PMID:28492532|PMID:28751108|PMID:29979746|PMID:33747789|PMID:8650226|PMID:9443875|PMID:9950362 12238350 NAGLU N-acetyl-alpha-glucosaminidase gene DOID:420 hypertrichosis ISO RGD:1351904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrichosis PMID:10094189|PMID:11153910|PMID:14984474|PMID:16151907|PMID:25741868|PMID:26907177|PMID:28492532|PMID:30809705|PMID:8650226|PMID:9443875|PMID:9443878|PMID:9832037|PMID:9950362 12238350 NAGLU N-acetyl-alpha-glucosaminidase gene DOID:630 genetic disease ISO RGD:1351904 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10094189|PMID:12202988|PMID:16151907|PMID:18218046|PMID:21204211|PMID:21937992|PMID:24314109|PMID:24347096|PMID:25525159|PMID:25741868|PMID:28492532|PMID:28844463|PMID:29269699|PMID:29979746|PMID:31342580|PMID:31969655|PMID:32056211|PMID:32883051|PMID:33747789|PMID:9443878|PMID:9832037 12238350 NAGLU N-acetyl-alpha-glucosaminidase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12238350 NAGLU N-acetyl-alpha-glucosaminidase gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1564228 D RGD:9068941 20220616 RGD protein:increased activity:brain: PMID:25720338|REF_RGD_ID:152995398 12238369 OR4C6 olfactory receptor family 4 subfamily C member 6 gene DOID:1059 intellectual disability ISO RGD:1345291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12238369 OR4C6 olfactory receptor family 4 subfamily C member 6 gene DOID:630 genetic disease ISO RGD:1345291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238372 HEXIM1 HEXIM P-TEFb complex subunit 1 gene DOID:630 genetic disease ISO RGD:1606576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238372 HEXIM1 HEXIM P-TEFb complex subunit 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12238377 TTI2 TELO2 interacting protein 2 gene DOID:0081204 autosomal recessive intellectual developmental disorder 39 ISO RGD:1604785 D RGD:7240710 20180130 OMIM 12238377 TTI2 TELO2 interacting protein 2 gene DOID:0081204 autosomal recessive intellectual developmental disorder 39 ISO RGD:1604785 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome PMID:21937992|PMID:23956177|PMID:25741868|PMID:31737043|PMID:32061250 12238377 TTI2 TELO2 interacting protein 2 gene DOID:1059 intellectual disability ISO RGD:1604785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12238377 TTI2 TELO2 interacting protein 2 gene DOID:10907 microcephaly ISO RGD:1604785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12238377 TTI2 TELO2 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1604785 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12238392 TRIM4 tripartite motif containing 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12238392 TRIM4 tripartite motif containing 4 gene DOID:630 genetic disease ISO RGD:1351905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238402 TMEM109 transmembrane protein 109 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1601968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12238402 TMEM109 transmembrane protein 109 gene DOID:1059 intellectual disability ISO RGD:1601968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12238402 TMEM109 transmembrane protein 109 gene DOID:630 genetic disease ISO RGD:1601968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:0050855 renal fibrosis ISO RGD:1309063 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic PMID:15647835|REF_RGD_ID:7244136 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:0080162 lupus nephritis disease_progression ISO RGD:1319195 D RGD:9068941 20200609 RGD PMID:12874250|REF_RGD_ID:7244140 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:0080322 polycystic kidney disease ISO RGD:1319195 D RGD:9068941 20200609 RGD PMID:22025716|REF_RGD_ID:7243974 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:10283 prostate cancer disease_progression ISO RGD:1319194 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:fibromuscular stroma, malignant epithelia:correlated with high histological grade and increased tumor size PMID:17705178|REF_RGD_ID:2298559 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:10286 prostate carcinoma ISO RGD:1319194 D RGD:9068941 20200609 RGD protein:increased activity:tumor:significant increase in constitutive activation vs adjacent normal tissue and unrelated normal prostate, by EMSA PMID:11912448|REF_RGD_ID:2298560 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:10966 lipoid nephrosis ISO RGD:1319194 D RGD:9068941 20200609 RGD DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 (human) PMID:19011907|REF_RGD_ID:7244144 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:10966 lipoid nephrosis no_association ISO RGD:1319194 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:2964G>A (human) PMID:15687724|REF_RGD_ID:7244146 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:10966 lipoid nephrosis severity ISO RGD:1319194 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:g.2964G>A (human) PMID:12900808|REF_RGD_ID:7244138 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:12361 Graves' disease ISO RGD:1319195 D RGD:9068941 20200609 RGD PMID:15117875|REF_RGD_ID:7244137 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:13139 crescentic glomerulonephritis ISO RGD:1319195 D RGD:9068941 20200609 RGD PMID:21985369|REF_RGD_ID:7243976 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:1394 urinary schistosomiasis severity ISO RGD:1319194 D RGD:9068941 20200609 RGD DNA:SNP:enhancer: (rs324013) PMID:18273035|REF_RGD_ID:7243977 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:1996 rectum adenocarcinoma ISO RGD:1319194 D RGD:9068941 20220812 RGD DNA:SNP:intron: (rs3024979) (human) PMID:22121102|REF_RGD_ID:153323313 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:234 colon adenocarcinoma ISO RGD:1319194 D RGD:9068941 20220812 RGD DNA:SNP:3' utr: (rs324015) (human) PMID:22121102|REF_RGD_ID:153323313 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:2841 asthma ISO RGD:1309063 D RGD:9068941 20200609 RGD PMID:19087723|REF_RGD_ID:7244151 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:2841 asthma treatment ISO RGD:1309063 D RGD:9068941 20200609 RGD PMID:16083555|REF_RGD_ID:7244153 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:3310 atopic dermatitis ISO RGD:1319194 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15306842 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:1319194 D RGD:9068941 20220729 RGD mRNA:increased expression:stomach (human) PMID:33042401|REF_RGD_ID:153298934 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:3770 pulmonary fibrosis ISO RGD:1319194 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26699812 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:417 autoimmune disease ISO RGD:732669 D RGD:9068941 20200609 RGD PMID:22867713|REF_RGD_ID:7243973 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:630 genetic disease ISO RGD:1319194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:820 myocarditis ISO RGD:1309063 D RGD:9068941 20200609 RGD mRNA:increased expression:left heart ventricle PMID:22134058|REF_RGD_ID:7244150 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1319194 D RGD:9068941 20200609 RGD protein:increased expression:kidney, epithelial cell PMID:16399078|REF_RGD_ID:7243978 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:9000197 Edema ISO RGD:1319194 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15306842 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:9000784 Fibrosis ISO RGD:1319195 D RGD:9068941 20200609 RGD PMID:10486156|REF_RGD_ID:7829775 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:9002958 Solitary Fibrous Tumors ISO RGD:1319194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23313952|PMID:23313954 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:9004009 Reperfusion Injury ISO RGD:1309063 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:17880360|REF_RGD_ID:2303397 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:9004484 Sepsis severity ISO RGD:1319195 D RGD:9068941 20200609 RGD PMID:11257135|REF_RGD_ID:7207876 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1319195 D RGD:9068941 20200609 RGD DNA:gene knockout::Balb/C-derived Stat6(-/-) mice resistant to growth of implanted Balb/C mammary tumors PMID:11086031|REF_RGD_ID:2298563 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1319194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21765211 12238418 STAT6 signal transducer and activator of transcription 6 gene DOID:9006223 Kidney Reperfusion Injury severity ISO RGD:1319195 D RGD:9068941 20200609 RGD PMID:12709397|REF_RGD_ID:7244143 12238458 OR5W2 olfactory receptor family 5 subfamily W member 2 gene DOID:1059 intellectual disability ISO RGD:1342811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12238458 OR5W2 olfactory receptor family 5 subfamily W member 2 gene DOID:630 genetic disease ISO RGD:1342811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238462 SEMA5B semaphorin 5B gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1318955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12238462 SEMA5B semaphorin 5B gene DOID:630 genetic disease ISO RGD:1318955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238462 SEMA5B semaphorin 5B gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1318955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12238462 SEMA5B semaphorin 5B gene DOID:9270 alkaptonuria ISO RGD:1318955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12238496 RPRML reprimo like gene DOID:630 genetic disease ISO RGD:1604446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238538 CCDC185 coiled-coil domain containing 185 gene DOID:1540 parathyroid carcinoma ISO RGD:1602974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12238538 CCDC185 coiled-coil domain containing 185 gene DOID:630 genetic disease ISO RGD:1602974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238538 CCDC185 coiled-coil domain containing 185 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:0060180 colitis susceptibility ISO RGD:732638 D RGD:9068941 20200609 RGD PMID:20650341|REF_RGD_ID:5509936 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15309680 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:0080000 muscular disease ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19683050 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23603006 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:732638 D RGD:9068941 20200609 RGD PMID:31211621|REF_RGD_ID:14747028 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:737309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:1059 intellectual disability ISO RGD:737309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:10652 Alzheimer's disease ISO RGD:737309 D RGD:9068941 20200609 RGD DNA:SNP:CDS:rs1800206, p.L162V PMID:12938026|REF_RGD_ID:5561899 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:10652 Alzheimer's disease no_association ISO RGD:737309 D RGD:9068941 20200609 RGD No association found for any polymorphisms of PPARA, including rs1800206 PMID:17850927|REF_RGD_ID:5561928 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:10763 hypertension ISO RGD:3369 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:19763017|REF_RGD_ID:2313778 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:10763 hypertension ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16054168|PMID:19834340 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:10763 hypertension treatment ISO RGD:3369 D RGD:9068941 20200609 RGD PMID:15967866|REF_RGD_ID:1580222 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:10908 hydrocephalus ISO RGD:3369 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain:Hydrocephalus-Texas (HTX, RS:0000399) vs. SD (RS:0000681) rats PMID:15964663|REF_RGD_ID:1624238 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:1168 familial hyperlipidemia ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21640707 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:12351 alcoholic hepatitis treatment ISO RGD:3369 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:12556 acute kidney tubular necrosis ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19834340 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:14566 disease of cellular proliferation ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17405874 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:1485 cystic fibrosis ISO RGD:737309 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression, decreased activity:peripheral blood lymphocytes PMID:16875506|REF_RGD_ID:5683626 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:305 carcinoma ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11137312 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:3146 lipid metabolism disorder ISO RGD:737309 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L162V (human) PMID:10828087|REF_RGD_ID:1580230 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:3310 atopic dermatitis ISO RGD:732638 D RGD:9068941 20200609 RGD potential therapeutic target with or without glucocorticoid therapy PMID:21633371|REF_RGD_ID:5509940 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:3310 atopic dermatitis ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:3393 coronary artery disease susceptibility ISO RGD:737309 D RGD:9068941 20200609 RGD DNA:snp:intron: (human) PMID:16043164|REF_RGD_ID:1580228 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:732638 D RGD:9068941 20200609 RGD PMID:17888025|REF_RGD_ID:5563035 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:5419 schizophrenia ISO RGD:732638 D RGD:9068941 20220825 MouseDO OMIM:181500 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:557 kidney disease ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316343 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:576 proteinuria ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16054168 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:5844 myocardial infarction ISO RGD:737309 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs4253623, minor allele associated with increased risk PMID:18549840|REF_RGD_ID:5562819 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:630 genetic disease ISO RGD:737309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:3369 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:missense mutation:cds:p.L162V (human) PMID:19119483|REF_RGD_ID:15042881 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732638 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:missense mutation:cds:p.L162V (human) PMID:19119483|REF_RGD_ID:15042881 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737309 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:missense mutation:cds:p.L162V (human) PMID:19119483|REF_RGD_ID:15042881 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:783 end stage renal disease ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:824 periodontitis ISO RGD:3369 D RGD:9068941 20200609 RGD possible therapeutic target PMID:21253492|REF_RGD_ID:5509938 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:8778 Crohn's disease ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21829567 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11137312 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9000998 Brain Injuries ISO RGD:3369 D RGD:9068941 20200609 RGD agonist more effective in combination with simvastatin PMID:18562561|REF_RGD_ID:5508455 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9001285 Alcoholic Liver Diseases severity ISO RGD:732638 D RGD:9068941 20200609 RGD DNA:knockout::increased severity in knockouts PMID:15382117|REF_RGD_ID:5683636 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22919386 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17261635 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9002906 Multiple Organ Failure severity ISO RGD:732638 D RGD:9068941 20200609 RGD associated with Drug Toxicity (CTD:0005347), Zymosan (CHEBI:37671); DNA:knockout::knockout increases severity PMID:17047518|REF_RGD_ID:5683625 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9003234 Hypertensive Nephropathy ISO RGD:3369 D RGD:9068941 20200609 RGD Strain: SHRSP PMID:20671072|REF_RGD_ID:5509943 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9003370 Dyslipidemias ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16168052 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9003936 Cardiomegaly ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22198280 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9004009 Reperfusion Injury ISO RGD:3369 D RGD:9068941 20200609 RGD liver ischemia/reperfusion injury PMID:21305343|REF_RGD_ID:5509942 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9004009 Reperfusion Injury ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19151258 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9004017 Chronic Hepatitis C ISO RGD:3369 D RGD:9068941 20200609 RGD associated with liver cirrhosis;mRNA, protein:decreased expression:liver (human) PMID:15685545|REF_RGD_ID:5683635 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9004017 Chronic Hepatitis C ISO RGD:732638 D RGD:9068941 20200609 RGD associated with liver cirrhosis;mRNA, protein:decreased expression:liver (human) PMID:15685545|REF_RGD_ID:5683635 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9004017 Chronic Hepatitis C ISO RGD:737309 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver hepatocytes PMID:15685545|REF_RGD_ID:5683635 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9004484 Sepsis severity ISO RGD:732638 D RGD:9068941 20200609 RGD DNA:knockout::associated with more severe disease PMID:22089192|REF_RGD_ID:5562037 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9004484 Sepsis severity ISO RGD:737309 D RGD:9068941 20200609 RGD RNA:decreased expression:blood:associated with more severe disease PMID:22089192|REF_RGD_ID:5562037 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737309 D RGD:9068941 20200609 RGD DNA:snp:intron: (human) PMID:11864924|REF_RGD_ID:1580229 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11137312 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9005369 Hepatomegaly ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14982965 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9005372 Inflammation ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21300114 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12967931|PMID:14563825|PMID:23090186 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9005911 Hyperapobetalipoproteinemia ISO RGD:737309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperapobetalipoproteinemia, susceptibility to PMID:10828087|PMID:12006394|PMID:15309680 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9006599 Hypertriglyceridemia ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15309680 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19683050 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18703563 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:3369 D RGD:9068941 20200609 RGD Strain: ZDF PMID:19317897|REF_RGD_ID:5509944 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9007188 Liver Neoplasms ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20143881|PMID:29134746 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9007346 Cachexia ISO RGD:737309 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive (COPD, MeSH:D029424); RNA:decreased expression:skeletal muscle PMID:17459894|REF_RGD_ID:5683621 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732638 D RGD:9068941 20200609 RGD LPS-induced acute liver damage PMID:21262334|REF_RGD_ID:5509941 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24385052 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9007571 Hyperlipoproteinemias ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10828087 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9007692 Insulin Resistance ISO RGD:732638 D RGD:9068941 20200609 RGD PMID:19322024|REF_RGD_ID:5683642 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9007692 Insulin Resistance ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16168052|PMID:21324916 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16411023 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9351 diabetes mellitus ISO RGD:732638 D RGD:9068941 20220825 MouseDO 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17317762|PMID:31626838 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9427 hypertensive encephalopathy ISO RGD:3369 D RGD:9068941 20200609 RGD Strain: SHRSP PMID:20671072|REF_RGD_ID:5509943 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9452 fatty liver disease ISO RGD:3369 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;mRNA:decreased expression:liver (human) PMID:16393287|REF_RGD_ID:15042851 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9452 fatty liver disease ISO RGD:732638 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus (CTD:0000249); in high fat-fed foz/foz obese/diabetic mice PMID:21929649|REF_RGD_ID:5509939 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9452 fatty liver disease ISO RGD:732638 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;mRNA:decreased expression:liver (human) PMID:16393287|REF_RGD_ID:15042851 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9452 fatty liver disease ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19124612 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9452 fatty liver disease ISO RGD:737309 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;mRNA:decreased expression:liver (human) PMID:16393287|REF_RGD_ID:15042851 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:732638 D RGD:9068941 20200609 RGD PMID:19472040|REF_RGD_ID:2313779 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9970 obesity ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11089532|PMID:30738174 12238554 PPARA peroxisome proliferator activated receptor alpha gene DOID:9993 hypoglycemia ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16777972 12238582 SPCS2 signal peptidase complex subunit 2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1345346 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12238582 SPCS2 signal peptidase complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:1345346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12238582 SPCS2 signal peptidase complex subunit 2 gene DOID:630 genetic disease ISO RGD:1345346 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238591 SMC6 structural maintenance of chromosomes 6 gene DOID:630 genetic disease ISO RGD:1322555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238622 ACADSB acyl-CoA dehydrogenase short/branched chain gene DOID:10907 microcephaly ISO RGD:735869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12238622 ACADSB acyl-CoA dehydrogenase short/branched chain gene DOID:12849 autistic disorder ISO RGD:735869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17883863 12238622 ACADSB acyl-CoA dehydrogenase short/branched chain gene DOID:1826 epilepsy ISO RGD:735869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizure PMID:17945527|PMID:20547083|PMID:25741868|PMID:28492532|PMID:30626930|PMID:36147814 12238622 ACADSB acyl-CoA dehydrogenase short/branched chain gene DOID:2340 craniosynostosis ISO RGD:735869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 12238622 ACADSB acyl-CoA dehydrogenase short/branched chain gene DOID:630 genetic disease ISO RGD:735869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15615815|PMID:17945527|PMID:20547083|PMID:25741868|PMID:28492532|PMID:30730842 12238622 ACADSB acyl-CoA dehydrogenase short/branched chain gene DOID:9003149 2-Methylbutyryl-CoA Dehydrogenase Deficiency ISO RGD:735869 D RGD:7240710 20180130 OMIM 12238622 ACADSB acyl-CoA dehydrogenase short/branched chain gene DOID:9003149 2-Methylbutyryl-CoA Dehydrogenase Deficiency ISO RGD:735869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase PMID:10832746|PMID:11013134|PMID:12837870|PMID:15615815|PMID:16199547|PMID:16317551|PMID:17576681|PMID:17945527|PMID:20547083|PMID:23712021|PMID:25741868|PMID:26284228|PMID:28492532|PMID:30626930|PMID:30730842|PMID:31555323|PMID:31785789|PMID:36147814|PMID:9536098 12238642 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28220687 12238642 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:10603 glucose intolerance ISO RGD:732865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19934007 12238642 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:12858 Huntington's disease ISO RGD:1550489 D RGD:9068941 20200609 RGD protein:increased phosphorylation, altered localization:nucleus PMID:21768291|REF_RGD_ID:6484534 12238642 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:12858 Huntington's disease ISO RGD:732865 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:21768291|REF_RGD_ID:6484534 12238642 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:13580 cholestasis treatment ISO RGD:3387 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:27090119|REF_RGD_ID:15090804 12238642 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:13938 amenorrhea ISO RGD:732865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12238642 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:1612 breast cancer ISO RGD:732865 D RGD:9068941 20200609 RGD DNA:SNP: :rs10074991 (human) PMID:22562547|REF_RGD_ID:6484541 12238642 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:219 colon cancer ISO RGD:732865 D RGD:9068941 20200609 RGD PMID:20622004|REF_RGD_ID:5685669 12238642 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732865 D RGD:9068941 20210903 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 12238642 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:630 genetic disease ISO RGD:732865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238642 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098866 12238642 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9002661 Diabetes Complications ISO RGD:3387 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21548839|REF_RGD_ID:6484542 12238642 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis severity ISO RGD:1550489 D RGD:9068941 20200609 RGD PMID:19486896|REF_RGD_ID:6484540 12238642 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12238642 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9004610 Acute Lung Injury ISO RGD:1550489 D RGD:9068941 20200609 RGD PMID:21595935|REF_RGD_ID:6484539 12238642 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9005930 Endotoxemia ISO RGD:1550489 D RGD:9068941 20200609 RGD mRNA:decreased expression:epididymal fat pad PMID:20421294|REF_RGD_ID:6484543 12238642 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:1550489 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 12238642 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:3387 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 12238642 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9007692 Insulin Resistance ISO RGD:3387 D RGD:9068941 20200609 RGD associated with Obesity PMID:22231922|REF_RGD_ID:6484545 12238642 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9007692 Insulin Resistance ISO RGD:732865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19934007 12238642 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9008114 Helicobacter Infections ISO RGD:732865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28220687 12238642 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3387 D RGD:9068941 20200609 RGD PMID:20054491|REF_RGD_ID:2316808 12238642 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9452 fatty liver disease ISO RGD:1550489 D RGD:9068941 20200609 RGD PMID:19162361|REF_RGD_ID:6484544 12238656 NKAPD1 NKAP domain containing 1 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1605379 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 12238656 NKAPD1 NKAP domain containing 1 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1605379 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 12238656 NKAPD1 NKAP domain containing 1 gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:1605379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 12238656 NKAPD1 NKAP domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1605379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12238656 NKAPD1 NKAP domain containing 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1605379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12238656 NKAPD1 NKAP domain containing 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12238656 NKAPD1 NKAP domain containing 1 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1605379 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 12238684 AQP9 aquaporin 9 gene DOID:0060041 autism spectrum disorder ISO RGD:735505 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12238684 AQP9 aquaporin 9 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:735505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23563754 12238684 AQP9 aquaporin 9 gene DOID:1240 leukemia ISO RGD:735505 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15336539 12238684 AQP9 aquaporin 9 gene DOID:2717 Bloom syndrome ISO RGD:735505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12238684 AQP9 aquaporin 9 gene DOID:630 genetic disease ISO RGD:735505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238684 AQP9 aquaporin 9 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12238684 AQP9 aquaporin 9 gene DOID:9005968 Neuralgia ameliorates ISO RGD:68433 D RGD:9068941 20220623 RGD PMID:31746418|REF_RGD_ID:152995474 12238684 AQP9 aquaporin 9 gene DOID:9006854 MPTP Poisoning ISO RGD:735505 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:29566083 12238684 AQP9 aquaporin 9 gene DOID:9007964 Arsenic Poisoning ISO RGD:735505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19805235 12238684 AQP9 aquaporin 9 gene DOID:9008091 Optic Nerve Injuries ISO RGD:68433 D RGD:9068941 20200609 RGD PMID:20216911|REF_RGD_ID:2326035 12238684 AQP9 aquaporin 9 gene DOID:9119 acute myeloid leukemia ISO RGD:735505 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16968895 12238684 AQP9 aquaporin 9 gene DOID:9256 colorectal cancer ISO RGD:735505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12238694 MAN2A1 mannosidase alpha class 2A member 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735705 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12238694 MAN2A1 mannosidase alpha class 2A member 1 gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:735706 D RGD:9068941 20220825 MouseDO OMIM:105600 | OMIM:224100 | OMIM:224120 | OMIM:613673 | OMIM:615631 12238694 MAN2A1 mannosidase alpha class 2A member 1 gene DOID:630 genetic disease ISO RGD:735705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238694 MAN2A1 mannosidase alpha class 2A member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12238694 MAN2A1 mannosidase alpha class 2A member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12238694 MAN2A1 mannosidase alpha class 2A member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735705 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12238694 MAN2A1 mannosidase alpha class 2A member 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:735706 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12238721 SLC36A4 solute carrier family 36 member 4 gene DOID:1059 intellectual disability ISO RGD:1323033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12238721 SLC36A4 solute carrier family 36 member 4 gene DOID:630 genetic disease ISO RGD:1323033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238736 CALB2 calbindin 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:731363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12238736 CALB2 calbindin 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:731363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12238736 CALB2 calbindin 2 gene DOID:13141 uveitis ISO RGD:731363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578012 12238736 CALB2 calbindin 2 gene DOID:1790 malignant mesothelioma ISO RGD:731363 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 12238736 CALB2 calbindin 2 gene DOID:630 genetic disease ISO RGD:731363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238736 CALB2 calbindin 2 gene DOID:9001834 Peritoneal Neoplasms ISO RGD:731363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 12238736 CALB2 calbindin 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:731363 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium PMID:18604736|REF_RGD_ID:2315881 12238750 PLEKHD1 pleckstrin homology and coiled-coil domain containing D1 gene DOID:630 genetic disease ISO RGD:1347482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238750 PLEKHD1 pleckstrin homology and coiled-coil domain containing D1 gene DOID:9008939 Breast Neoplasms ISO RGD:1347482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12238808 TMEM229A transmembrane protein 229A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:3102903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12238808 TMEM229A transmembrane protein 229A gene DOID:630 genetic disease ISO RGD:3102903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238816 GJB2 gap junction protein beta 2 gene DOID:0050563 nonsyndromic deafness ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10980526|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11354642|PMID:11386851|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12081719|PMID:12111646|PMID:12112666|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12372058|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12668604|PMID:12684873|PMID:12700168|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12872268|PMID:12910486|PMID:14070830|PMID:14505035|PMID:14556203|PMID:14643477|PMID:14676473|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15146674|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15504600|PMID:15547422|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15757815|PMID:15790391|PMID:15832357|PMID:15841999|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:15996214|PMID:16059934|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16945493|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17331080|PMID:17357124|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17462767|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17567887|PMID:17567889|PMID:17576681|PMID:17581693|PMID:17660464|PMID:17661817|PMID:17666888|PMID:17671735|PMID:17935238|PMID:17993581|PMID:18294064|PMID:18414213|PMID:18451998|PMID:18472371|PMID:18560174|PMID:18570691|PMID:18649181|PMID:18668259|PMID:18684989|PMID:18776652|PMID:18793701|PMID:18804553|PMID:18924167|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19051073|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19274344|PMID:19283857|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19723508|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20096356|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20442751|PMID:20497192|PMID:20542681|PMID:20553101|PMID:20563649|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20890442|PMID:20937258|PMID:20956747|PMID:21040787|PMID:2104787|PMID:21094084|PMID:21094651|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298213|PMID:21366436 12238816 GJB2 gap junction protein beta 2 gene DOID:0050563 nonsyndromic deafness ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:21388256|PMID:21392827|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21510145|PMID:21728791|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21868108|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22037723|PMID:22103400|PMID:22106692|PMID:22208444|PMID:22281373|PMID:22384008|PMID:22389666|PMID:22429511|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22567861|PMID:22574200|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22704424|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23451214|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23668481|PMID:23680645|PMID:23684175|PMID:23757202|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24078562|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24158896|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24387126|PMID:24507663|PMID:24529908|PMID:24596593|PMID:24611097|PMID:24645897|PMID:24654934|PMID:24706568|PMID:24737404|PMID:24762805|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25153233|PMID:25162826|PMID:25188385|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25288386|PMID:25326637|PMID:25388846|PMID:25401782|PMID:25555641|PMID:25560255|PMID:25587757|PMID:25625422|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25788563|PMID:25999548|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26186295|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26482070|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26769242|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26969326|PMID:26990548|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27316387|PMID:27398341|PMID:27466889|PMID:27481527|PMID:27501294|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27792752|PMID:27843504|PMID:27884173|PMID:27884957|PMID:28012523|PMID:28263784|PMID:28271504|PMID:28383030|PMID:28405014|PMID:28428247|PMID:28489599|PMID:28492532|PMID:29062245|PMID:29106882|PMID:29140768|PMID:29293505|PMID:29311818|PMID:29362677|PMID:29501291|PMID:29542069|PMID:2956987|PMID:29605365|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30168495|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30466042|PMID:30589569|PMID:30693673|PMID:30733538|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31162818|PMID:31163360|PMID:31195736|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31581539|PMID:31620696|PMID:31827275|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32455934|PMID:32645618|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33333757|PMID:33524517|PMID:33597575|PMID:34062854|PMID:34335733|PMID:34440441|PMID:35301649|PMID:35396755|PMID:6409293|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9716127|PMID:9819448|PMID:9856479 12238816 GJB2 gap junction protein beta 2 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:10204859|PMID:10218527|PMID:10376574|PMID:10422812|PMID:10477435|PMID:10508996|PMID:10544226|PMID:10607953|PMID:10633133|PMID:10713883|PMID:10751669|PMID:10782932|PMID:10980526|PMID:10982182|PMID:11313751|PMID:11313763|PMID:11354642|PMID:11386851|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551104|PMID:11556849|PMID:11668644|PMID:11698809|PMID:11807148|PMID:11935342|PMID:11968091|PMID:12081719|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:12239718|PMID:12372058|PMID:12522556|PMID:12668604|PMID:12684873|PMID:12700168|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:14070830|PMID:14643477|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14985372|PMID:14986832|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15151513|PMID:15219044|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15464308|PMID:15479191|PMID:15617550|PMID:15656949|PMID:15666300|PMID:15790391|PMID:15855033|PMID:15954104|PMID:15964725|PMID:15967879|PMID:15996214|PMID:16059934|PMID:16076412|PMID:16088916|PMID:16125251|PMID:16222667|PMID:16336662|PMID:16379542|PMID:16380907|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16868655|PMID:16945493|PMID:17146393|PMID:17253936|PMID:17406097|PMID:17428550|PMID:17462767|PMID:17553572|PMID:17576681|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18294064|PMID:18414213|PMID:18570691|PMID:18776652|PMID:18793701|PMID:18804553|PMID:18924167|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:19072567|PMID:19157576|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19715472|PMID:19814620|PMID:19925344|PMID:19929407|PMID:19929408|PMID:20022641|PMID:20073550|PMID:20086291|PMID:20096356|PMID:20201936|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20407643|PMID:20563649|PMID:20739944|PMID:20815033|PMID:20890442|PMID:21040787|PMID:2104787|PMID:21122151|PMID:21220926|PMID:21465647|PMID:21468573|PMID:21510145|PMID:21776002|PMID:21910243|PMID:22000900|PMID:22281373|PMID:22567152|PMID:22567369|PMID:22613756|PMID:22695344|PMID:22855627|PMID:22975760|PMID:22981120|PMID:22995991|PMID:23073770|PMID:23141775|PMID:23451214|PMID:23489192|PMID:23504403|PMID:23638949|PMID:23668481|PMID:23680645|PMID:23757202|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24158611|PMID:24346070|PMID:24387126|PMID:24529908|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25153233|PMID:25262649|PMID:25288386|PMID:25388846|PMID:25555641|PMID:25636251|PMID:25741868|PMID:25999548|PMID:26059209|PMID:26096904|PMID:26188157|PMID:26381000|PMID:26467025|PMID:26778469|PMID:26969326|PMID:2706105|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27316387|PMID:27481527|PMID:27843504|PMID:28492532|PMID:29062245|PMID:29362677|PMID:29501291|PMID:29921236|PMID:3|PMID:30086704|PMID:30094485|PMID:30303587|PMID:30311386|PMID:30431684|PMID:30872814|PMID:30989077|PMID:31346875|PMID:32747562|PMID:33524517|PMID:34440441|PMID:35396755|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9482292|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9819448|PMID:9856479 12238816 GJB2 gap junction protein beta 2 gene DOID:0050658 Bart-Pumphrey syndrome ISO RGD:1351211 D RGD:7240710 20180130 OMIM 12238816 GJB2 gap junction protein beta 2 gene DOID:0050658 Bart-Pumphrey syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bart-Pumphrey syndrome | ClinVar Annotator: match by term: KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12673800|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15482471|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15952212|PMID:15954104|PMID:15964725|PMID:15967879|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17106596|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17431919|PMID:17444514|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18668259|PMID:18684989|PMID:18776652|PMID:18804553|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20956747|PMID:20981092|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21738759|PMID:21776002|PMID:21777984 12238816 GJB2 gap junction protein beta 2 gene DOID:0050658 Bart-Pumphrey syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bart-Pumphrey syndrome | ClinVar Annotator: match by term: KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22106692|PMID:22281373|PMID:22384008|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23695287|PMID:23757202|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24611097|PMID:24645897|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30565282|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:35396755|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448 12238816 GJB2 gap junction protein beta 2 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1351211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:30311386 12238816 GJB2 gap junction protein beta 2 gene DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome ISO RGD:1351211 D RGD:7240710 20180130 OMIM 12238816 GJB2 gap junction protein beta 2 gene DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11918723|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12072059|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12548749|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12673800|PMID:12684873|PMID:12746422|PMID:12752120|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12872268|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14691997|PMID:14694360|PMID:14700667|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15633193|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15769851|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:16885744|PMID:1693158|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17330861|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17428836|PMID:17431919|PMID:17444514|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17660464|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18024254|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18668259|PMID:18684989|PMID:18776652|PMID:18804553|PMID:18843290|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20101161|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20412116|PMID:20441744|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20956747|PMID:20981092|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395 12238816 GJB2 gap junction protein beta 2 gene DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant PMID:21220926|PMID:21281533|PMID:21287563|PMID:21292415|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21738759|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22031297|PMID:22037723|PMID:22103400|PMID:22106692|PMID:22281373|PMID:22384008|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23695287|PMID:23757202|PMID:23797420|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23924173|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24611097|PMID:24645897|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25575739|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26763877|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27087580|PMID:27141831|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27761313|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30466042|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34008892|PMID:34062854|PMID:34335733|PMID:34440441|PMID:35396755|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448|PMID:9856479 12238816 GJB2 gap junction protein beta 2 gene DOID:0110253 cataract 14 multiple types ISO RGD:1351211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 12238816 GJB2 gap junction protein beta 2 gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:1351211 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:24367894|PMID:25741868 12238816 GJB2 gap junction protein beta 2 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1351211 D RGD:7240710 20180130 OMIM 12238816 GJB2 gap junction protein beta 2 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10369869|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10704187|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10980526|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11445873|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12081719|PMID:12111646|PMID:12112666|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12372058|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12457340|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12673800|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12872268|PMID:12885339|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14571368|PMID:14643477|PMID:14676473|PMID:14681040|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14978038|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15146674|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15603707|PMID:15617546|PMID:15617550|PMID:15633193|PMID:15638823|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15757815|PMID:15790391|PMID:15832357|PMID:15841999|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:15994881|PMID:15996214|PMID:16059934|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16645853|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:16885744|PMID:1693158|PMID:16931589|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17077310|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17309986|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17428836|PMID:17431919|PMID:17444514|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17567887|PMID:17567889|PMID:17576681|PMID:17581693|PMID:17660464|PMID:17661817|PMID:17666888|PMID:17671735|PMID:17935238|PMID:17993581|PMID:18024254|PMID:18196482|PMID:18294064|PMID:18316665|PMID:18324688|PMID:18353197|PMID:18414213|PMID:18451998|PMID:18472371|PMID:18519481|PMID:18560174|PMID:18570691|PMID:18580690|PMID:18607988|PMID:18649181|PMID:18668259|PMID:18684989|PMID:18688874|PMID:18758381|PMID:18776652|PMID:18804553|PMID:18809215|PMID:18837651|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:18990456|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19101659|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19283857|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19384972|PMID:19390476|PMID:19465004|PMID:19567088|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19877196|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641 12238816 GJB2 gap junction protein beta 2 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 PMID:20031451|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20096356|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20412116|PMID:20441744|PMID:20497192|PMID:20542681|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20601923|PMID:20607074|PMID:20639189|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20956747|PMID:20981092|PMID:21040787|PMID:2104787|PMID:21055240|PMID:21094084|PMID:21094651|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21292415|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21388256|PMID:21392827|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21557232|PMID:21728791|PMID:21738759|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21912263|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22031297|PMID:22037723|PMID:22103400|PMID:22106692|PMID:22208444|PMID:22281373|PMID:22384008|PMID:22389666|PMID:22429511|PMID:22450542|PMID:22484064|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22567861|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22704424|PMID:22747691|PMID:22785241|PMID:22787277|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23120683|PMID:23141775|PMID:23266159|PMID:23328711|PMID:23418865|PMID:23451214|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23684175|PMID:23695287|PMID:23751281|PMID:23757202|PMID:23804846|PMID:23812555|PMID:23826813|PMID:23856378|PMID:23873582|PMID:23900770|PMID:23967136|PMID:23967202|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24078562|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24158896|PMID:24224790|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24372583|PMID:24503448|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24596593|PMID:24611097|PMID:24612839|PMID:24645897|PMID:24654934|PMID:24706568|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25153233|PMID:25162826|PMID:25188385|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25560255|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25752103|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26046157|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26186295|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26397989|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26763877|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27067584|PMID:27087580|PMID:27153395|PMID:27169813|PMID:27177978|PMID:27224056|PMID:27247933|PMID:27316387|PMID:27340645|PMID:27398341|PMID:27466889|PMID:27481527|PMID:27501294|PMID:27518711|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27761313|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884173|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28263784|PMID:28271504|PMID:28383030|PMID:28405014|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896 12238816 GJB2 gap junction protein beta 2 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 PMID:28900111|PMID:29062245|PMID:29106882|PMID:29148562|PMID:29196752|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:29542069|PMID:2956987|PMID:29605365|PMID:29625052|PMID:29665173|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30068397|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30168495|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30466042|PMID:30473554|PMID:30589569|PMID:30693673|PMID:30733538|PMID:30828346|PMID:30872814|PMID:30896630|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31152317|PMID:31160754|PMID:31162818|PMID:31163360|PMID:31195736|PMID:31346875|PMID:31370293|PMID:31379920|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32645618|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33297549|PMID:33333757|PMID:33466560|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:35396755|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448|PMID:9838096|PMID:9856479 12238816 GJB2 gap junction protein beta 2 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:10049954|PMID:10204859|PMID:10218527|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11445873|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11807148|PMID:11912510|PMID:11935342|PMID:11968091|PMID:12064630|PMID:12081719|PMID:12111646|PMID:12112666|PMID:12121355|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12352684|PMID:12384501|PMID:12384781|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12865758|PMID:12885339|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14571368|PMID:14694360|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:15113126|PMID:15146474|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15479191|PMID:15617550|PMID:15638823|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:15994881|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17331080|PMID:17357124|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18684989|PMID:18776652|PMID:18804553|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19707039|PMID:19715472|PMID:19814620|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20095872|PMID:20154630|PMID:20201936|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20497192|PMID:20563649|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20981092|PMID:21094084|PMID:21122151|PMID:21162657|PMID:21220926|PMID:21465647|PMID:21468573|PMID:21488715|PMID:21776002|PMID:21811586|PMID:21910243|PMID:22000900|PMID:22011219|PMID:22037723|PMID:22106692|PMID:22281373|PMID:22567152|PMID:22567369|PMID:22567861|PMID:22574200|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22855627|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23489192|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23668481|PMID:23680645|PMID:23757202|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24158611|PMID:24341454|PMID:24346070|PMID:24529908|PMID:24611097|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25087612|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25288386|PMID:25326637|PMID:25388846|PMID:25401782|PMID:25555641|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25999548|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26336802|PMID:26444186|PMID:26467025 12238816 GJB2 gap junction protein beta 2 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:26482070|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26969326|PMID:27045574|PMID:2706105|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27481527|PMID:27610647|PMID:27623246|PMID:27785406|PMID:27792752|PMID:27843504|PMID:27884957|PMID:28012523|PMID:28428247|PMID:28489599|PMID:28492532|PMID:29293505|PMID:29311818|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29921236|PMID:29926981|PMID:3|PMID:30086704|PMID:30094485|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30589569|PMID:30693673|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31562289|PMID:32090102|PMID:32258544|PMID:32747562|PMID:33126609|PMID:33297549|PMID:33333757|PMID:33524517|PMID:34440441|PMID:35396755|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9422505|PMID:9482292|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9716127|PMID:9819448 12238816 GJB2 gap junction protein beta 2 gene DOID:0110564 autosomal dominant nonsyndromic deafness 3A ISO RGD:1351211 D RGD:7240710 20180130 OMIM 12238816 GJB2 gap junction protein beta 2 gene DOID:0110564 autosomal dominant nonsyndromic deafness 3A ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3a PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10369869|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10704187|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10807696|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10980526|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11298683|PMID:11313751|PMID:11313763|PMID:11354642|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12372058|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12457340|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12668604|PMID:12673800|PMID:12684873|PMID:12700168|PMID:12746422|PMID:12786758|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12872268|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14676473|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14978038|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15757815|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:15996214|PMID:16059934|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16645853|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16931589|PMID:16945493|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17309986|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17431919|PMID:17444514|PMID:17462767|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17567887|PMID:17576681|PMID:17581693|PMID:17660464|PMID:17661817|PMID:17666888|PMID:17671735|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18353197|PMID:18414213|PMID:18451998|PMID:18472371|PMID:18560174|PMID:18570691|PMID:18607988|PMID:18668259|PMID:18684989|PMID:18688874|PMID:18776652|PMID:18793701|PMID:18804553|PMID:18924167|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19101659|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19274344|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19384972|PMID:19465004|PMID:19567088|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19877196|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20031451|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20096356|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449 12238816 GJB2 gap junction protein beta 2 gene DOID:0110564 autosomal dominant nonsyndromic deafness 3A ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3a PMID:20381175|PMID:20407643|PMID:20441744|PMID:20442751|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20854437|PMID:20863150|PMID:20890442|PMID:20937258|PMID:20956747|PMID:20981092|PMID:21040787|PMID:2104787|PMID:21055240|PMID:21094084|PMID:21094651|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21388256|PMID:21392827|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21510145|PMID:21738759|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21868108|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22103400|PMID:22106692|PMID:22208444|PMID:22281373|PMID:22384008|PMID:22389666|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22567861|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22704424|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23266159|PMID:23328711|PMID:23451214|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23684175|PMID:23695287|PMID:23757202|PMID:23804846|PMID:23826813|PMID:23856378|PMID:23873582|PMID:23900770|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24078562|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24158896|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24372583|PMID:24387126|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24596593|PMID:24611097|PMID:24612839|PMID:24645897|PMID:24654934|PMID:24706568|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25153233|PMID:25162826|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25752103|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26397989|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26763877|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27153395|PMID:27169813|PMID:27177978|PMID:27224056|PMID:27247933|PMID:27316387|PMID:27398341|PMID:27481527|PMID:27501294|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884173|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28263784|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29140768|PMID:29148562|PMID:29196752|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29605365|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30068397|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30168495|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30466042|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30896630|PMID:30989077|PMID:31035178 12238816 GJB2 gap junction protein beta 2 gene DOID:0110564 autosomal dominant nonsyndromic deafness 3A ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3a PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31379920|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31827275|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32455934|PMID:32645618|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:35301649|PMID:35396755|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448|PMID:9856479 12238816 GJB2 gap junction protein beta 2 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1351211 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:28492532 12238816 GJB2 gap junction protein beta 2 gene DOID:0111339 Vohwinkel syndrome ISO RGD:1351211 D RGD:7240710 20180130 OMIM 12238816 GJB2 gap junction protein beta 2 gene DOID:0111339 Vohwinkel syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Keratoderma hereditarium mutilans | ClinVar Annotator: match by term: Mutilating keratoderma PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10369869|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11918723|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12072059|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12548749|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12673800|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15633193|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15769851|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17330861|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17431919|PMID:17444514|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18668259|PMID:18684989|PMID:18776652|PMID:18804553|PMID:18843290|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20101161|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20956747|PMID:20981092|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21465647 12238816 GJB2 gap junction protein beta 2 gene DOID:0111339 Vohwinkel syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Keratoderma hereditarium mutilans | ClinVar Annotator: match by term: Mutilating keratoderma PMID:21468573|PMID:21481246|PMID:21488715|PMID:21738759|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22106692|PMID:22281373|PMID:22384008|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23695287|PMID:23757202|PMID:23797420|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23924173|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24611097|PMID:24645897|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25575739|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27141831|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30068397|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:35396755|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9326398|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448 12238816 GJB2 gap junction protein beta 2 gene DOID:0111505 palmoplantar keratoderma-deafness syndrome ISO RGD:1351211 D RGD:7240710 20180130 OMIM 12238816 GJB2 gap junction protein beta 2 gene DOID:0111505 palmoplantar keratoderma-deafness syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Keratoderma palmoplantar, with deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10980526|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11354642|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12372058|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12668604|PMID:12673800|PMID:12684873|PMID:12700168|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:15996214|PMID:16059934|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16945493|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17431919|PMID:17444514|PMID:17462767|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18668259|PMID:18684989|PMID:18776652|PMID:18793701|PMID:18804553|PMID:18924167|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20096356|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20890442|PMID:20956747|PMID:20981092|PMID:21040787|PMID:2104787|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926 12238816 GJB2 gap junction protein beta 2 gene DOID:0111505 palmoplantar keratoderma-deafness syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Keratoderma palmoplantar, with deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21510145|PMID:21738759|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22106692|PMID:22281373|PMID:22384008|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23451214|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23695287|PMID:23757202|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24387126|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24611097|PMID:24645897|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25153233|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27316387|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:35396755|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448|PMID:9856479 12238816 GJB2 gap junction protein beta 2 gene DOID:0111737 X-linked deafness 2 ISO RGD:1351211 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10369869|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10782932|PMID:10807696|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11918723|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12072059|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12384781|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12673800|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15040442|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15482471|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:16076412|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17431919|PMID:17444514|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18668259|PMID:18684989|PMID:18776652|PMID:18804553|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20956747|PMID:20981092|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949 12238816 GJB2 gap junction protein beta 2 gene DOID:0111737 X-linked deafness 2 ISO RGD:1351211 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22106692|PMID:22281373|PMID:22384008|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23695287|PMID:23757202|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24645897|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25937001|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28590052|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32747562|PMID:33096615|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9819448 12238816 GJB2 gap junction protein beta 2 gene DOID:0111737 X-linked deafness 2 ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12384781|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12673800|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:16076412|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17431919|PMID:17444514|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18668259|PMID:18684989|PMID:18776652|PMID:18804553|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20956747|PMID:20981092|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22106692|PMID:22281373 12238816 GJB2 gap junction protein beta 2 gene DOID:0111737 X-linked deafness 2 ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear PMID:22384008|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23695287|PMID:23757202|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24645897|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32747562|PMID:33096615|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:35396755|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9819448 12238816 GJB2 gap junction protein beta 2 gene DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome PMID:25741868|PMID:28492532|PMID:30431684 12238816 GJB2 gap junction protein beta 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Progressive sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:10204859|PMID:10369869|PMID:10376574|PMID:10422812|PMID:10477435|PMID:10508996|PMID:10544226|PMID:10607953|PMID:10633133|PMID:10713883|PMID:10751669|PMID:10782932|PMID:10874298|PMID:10982180|PMID:10982182|PMID:11313751|PMID:11313763|PMID:11386851|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11551104|PMID:11668644|PMID:11807148|PMID:11912510|PMID:11918723|PMID:12072059|PMID:12081719|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12189493|PMID:12239718|PMID:12522556|PMID:12548749|PMID:12562518|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12865758|PMID:14070830|PMID:14643477|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14986832|PMID:15070423|PMID:15113126|PMID:15146474|PMID:15359540|PMID:15365987|PMID:15617550|PMID:15633193|PMID:15656949|PMID:15666300|PMID:15757815|PMID:15769851|PMID:15954104|PMID:15967879|PMID:16088916|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16380907|PMID:16532460|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16868655|PMID:17330861|PMID:17426645|PMID:17428550|PMID:17553572|PMID:17660464|PMID:17666888|PMID:17671735|PMID:17993581|PMID:18294064|PMID:18414213|PMID:18472371|PMID:18776652|PMID:18804553|PMID:18843290|PMID:18925674|PMID:18941476|PMID:18985073|PMID:18987669|PMID:19043807|PMID:19101659|PMID:19125024|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19925344|PMID:19929408|PMID:20073550|PMID:20086291|PMID:20086306|PMID:20101161|PMID:20236118|PMID:20301449|PMID:20668687|PMID:20739944|PMID:20815033|PMID:21220926|PMID:21366436|PMID:21465647|PMID:21468573|PMID:21910243|PMID:22037723|PMID:22281373|PMID:22389666|PMID:22567152|PMID:22567369|PMID:22567861|PMID:22613756|PMID:22704424|PMID:22855627|PMID:22975760|PMID:22981120|PMID:22995991|PMID:23489192|PMID:23668481|PMID:23757202|PMID:23797420|PMID:23924173|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24158611|PMID:24158896|PMID:24346070|PMID:24774219|PMID:25262649|PMID:25266519|PMID:25388846|PMID:25575739|PMID:25741868|PMID:25999548|PMID:26059209|PMID:26096904|PMID:26178431|PMID:26188157|PMID:26467025|PMID:26553399|PMID:26749107|PMID:26778469|PMID:26969326|PMID:2706105|PMID:27141831|PMID:27153395|PMID:27884173|PMID:28492532|PMID:29362677|PMID:29501291|PMID:30086704|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30431684|PMID:30872814|PMID:33524517|PMID:34440441|PMID:35396755|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9482292|PMID:9529365|PMID:9600457|PMID:9620796|PMID:9819448 12238816 GJB2 gap junction protein beta 2 gene DOID:12577 urethral obstruction ISO RGD:728891 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:urothelium: PMID:11900482|REF_RGD_ID:11568666 12238816 GJB2 gap junction protein beta 2 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:1351211 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:25741868 12238816 GJB2 gap junction protein beta 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:728891 D RGD:9068941 20200609 RGD PMID:7762611|REF_RGD_ID:7349397 12238816 GJB2 gap junction protein beta 2 gene DOID:14693 Clouston syndrome ISO RGD:1351211 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 12238816 GJB2 gap junction protein beta 2 gene DOID:1697 ichthyosis ISO RGD:1351211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16172043 12238816 GJB2 gap junction protein beta 2 gene DOID:2121 ectodermal dysplasia ISO RGD:1351211 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 12238816 GJB2 gap junction protein beta 2 gene DOID:2280 hidradenitis suppurativa ISO RGD:1351211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16172043 12238816 GJB2 gap junction protein beta 2 gene DOID:326 ischemia ISO RGD:728891 D RGD:9068941 20200609 RGD in urinary bladder; protein:increased expression:urothelium: PMID:24728265|REF_RGD_ID:11568671 12238816 GJB2 gap junction protein beta 2 gene DOID:3390 palmoplantar keratosis ISO RGD:1351211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16172043 12238816 GJB2 gap junction protein beta 2 gene DOID:3488 cellulitis ISO RGD:1351211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16172043 12238816 GJB2 gap junction protein beta 2 gene DOID:3910 lung adenocarcinoma ISO RGD:728891 D RGD:9068941 20200609 RGD DNA, mRNA:hypermethylation, decreased expression:lung PMID:16637067|REF_RGD_ID:11568669 12238816 GJB2 gap junction protein beta 2 gene DOID:4677 keratitis ISO RGD:1351211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16172043 12238816 GJB2 gap junction protein beta 2 gene DOID:630 genetic disease ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10049954|PMID:10204859|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10903123|PMID:10982180|PMID:10982182|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11386851|PMID:11483639|PMID:11493200|PMID:11551104|PMID:11556849|PMID:11668644|PMID:11746015|PMID:11807148|PMID:11935342|PMID:12081719|PMID:12121355|PMID:12172392|PMID:12176036|PMID:12189493|PMID:12239718|PMID:12384501|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12560944|PMID:12684873|PMID:12786762|PMID:12792423|PMID:12865758|PMID:14070830|PMID:14694360|PMID:14735592|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:15113126|PMID:15235031|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15479191|PMID:15666300|PMID:15700112|PMID:15954104|PMID:15967879|PMID:16077952|PMID:16088916|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16380907|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16868655|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17331080|PMID:17357124|PMID:17426645|PMID:17428550|PMID:17553572|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18294064|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18804553|PMID:18925674|PMID:18985073|PMID:19027181|PMID:19125024|PMID:19173109|PMID:19235794|PMID:19371219|PMID:19375528|PMID:19707039|PMID:19925344|PMID:19941053|PMID:20073550|PMID:20083784|PMID:20236118|PMID:20301449|PMID:20708129|PMID:20739944|PMID:20815033|PMID:21131880|PMID:21220926|PMID:21287563|PMID:21465647|PMID:21468573|PMID:21488715|PMID:21811586|PMID:21910243|PMID:22106692|PMID:22281373|PMID:22567152|PMID:22574200|PMID:22668073|PMID:22695344|PMID:22785241|PMID:22855627|PMID:22975760|PMID:22981120|PMID:23141775|PMID:23489192|PMID:23555729|PMID:23637863|PMID:23668481|PMID:23680645|PMID:23757202|PMID:23804846|PMID:23826813|PMID:23873582|PMID:24033266|PMID:24039984|PMID:24158611|PMID:24346070|PMID:24529908|PMID:24611097|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24945352|PMID:25085072|PMID:25262649|PMID:25288386|PMID:25326637|PMID:25741868|PMID:25999548|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26236732|PMID:26346709|PMID:26399936|PMID:26467025|PMID:26482070|PMID:26885124|PMID:26896187|PMID:26969326|PMID:2706105|PMID:27623246|PMID:27884957|PMID:28428247|PMID:28489599|PMID:28492532|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29773520|PMID:29926981|PMID:30086704|PMID:30303587|PMID:30311386|PMID:30431684|PMID:30872814|PMID:31160754|PMID:31370293|PMID:31562289|PMID:31620164|PMID:32258544|PMID:33126609|PMID:33524517|PMID:34440441|PMID:35396755|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9422505|PMID:9482292|PMID:9529365|PMID:9600457|PMID:9620796|PMID:9716127|PMID:9819448 12238816 GJB2 gap junction protein beta 2 gene DOID:684 hepatocellular carcinoma ISO RGD:728891 D RGD:9068941 20200609 RGD DNA, mRNA:promoter hypermethylation, decreased expression:liver PMID:17295234|REF_RGD_ID:2289638 12238816 GJB2 gap junction protein beta 2 gene DOID:7188 autoimmune thyroiditis ISO RGD:728891 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression, altered expression:thyroid gland: PMID:8770903|REF_RGD_ID:7349390 12238816 GJB2 gap junction protein beta 2 gene DOID:8893 psoriasis ISO RGD:1351211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953187|PMID:24212883 12238816 GJB2 gap junction protein beta 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:728891 D RGD:9068941 20200609 RGD PMID:1336494|REF_RGD_ID:7349398 12238816 GJB2 gap junction protein beta 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1351211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868 12238816 GJB2 gap junction protein beta 2 gene DOID:9002633 Premature Obstetric Labor ISO RGD:728891 D RGD:9068941 20200609 RGD PMID:8612484|REF_RGD_ID:11568660 12238816 GJB2 gap junction protein beta 2 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:728891 D RGD:9068941 20200609 RGD protein:increased expression:cochlea: PMID:15224875|REF_RGD_ID:7349367 12238816 GJB2 gap junction protein beta 2 gene DOID:9004464 Skin Neoplasms ISO RGD:1351211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7586191 12238816 GJB2 gap junction protein beta 2 gene DOID:9004538 Hearing Loss ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10369869|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10704187|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11386851|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11918723|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12072059|PMID:12081719|PMID:12111646|PMID:12112666|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12457340|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12548749|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12865758|PMID:12872268|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14681040|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:15113126|PMID:15146474|PMID:15146674|PMID:15150777|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15479191|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15633193|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15769851|PMID:15790391|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16931589|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17330861|PMID:17331080|PMID:17357124|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18519481|PMID:18560174|PMID:18570691|PMID:18684989|PMID:18758381|PMID:18776652|PMID:18804553|PMID:18843290|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19723508|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20096356|PMID:20101161|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20441744|PMID:20442751|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20639189|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20937258|PMID:20981092|PMID:21040787|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298644|PMID:21366436|PMID:21388256|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21510145|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21868108|PMID:21910243|PMID:21912263|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22037723|PMID:22106692|PMID:22208444|PMID:22281373|PMID:22384008|PMID:22429511|PMID:22498363 12238816 GJB2 gap junction protein beta 2 gene DOID:9004538 Hearing Loss ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:22567152|PMID:22567369|PMID:22574200|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22995991|PMID:23039283|PMID:23120683|PMID:23141775|PMID:23328711|PMID:23418865|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23668481|PMID:23680645|PMID:23757202|PMID:23797420|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23924173|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24158611|PMID:24256046|PMID:24346070|PMID:24503448|PMID:24529908|PMID:24611097|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25162826|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25388846|PMID:25401782|PMID:25555641|PMID:25575739|PMID:25587757|PMID:25625422|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25808784|PMID:25999548|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26482070|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27141831|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27340645|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27623246|PMID:27785406|PMID:27792752|PMID:27843504|PMID:27884957|PMID:28012523|PMID:28263784|PMID:28271504|PMID:28428247|PMID:28489599|PMID:28492532|PMID:29106882|PMID:29140768|PMID:29293505|PMID:29311818|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29605365|PMID:29625052|PMID:29921236|PMID:29926981|PMID:3|PMID:30068397|PMID:30086704|PMID:30094485|PMID:30168495|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30589569|PMID:30693673|PMID:30733538|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31562289|PMID:31569309|PMID:31581539|PMID:31589614|PMID:31620696|PMID:31827275|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32455934|PMID:32645618|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33333757|PMID:33524517|PMID:34335733|PMID:34440441|PMID:35301649|PMID:35396755|PMID:6409293|PMID:9139825|PMID:9285800|PMID:9326398|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9716127|PMID:9819448 12238816 GJB2 gap junction protein beta 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:728891 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:retina: PMID:22110070|REF_RGD_ID:7364887 12238816 GJB2 gap junction protein beta 2 gene DOID:9005709 Keratitis-Ichthyosis-Deafness Syndrome ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Keratitis-Ichthyosis-Deafness Syndrome PMID:10049954|PMID:10508996|PMID:10596881|PMID:10903123|PMID:10982182|PMID:11074495|PMID:11386851|PMID:11556849|PMID:11668644|PMID:11935342|PMID:15967879|PMID:16380907|PMID:17666888|PMID:18414213|PMID:19125024|PMID:20301449|PMID:20739944|PMID:21465647|PMID:22567369|PMID:22695344|PMID:22785241|PMID:24033266|PMID:24158611|PMID:24529908|PMID:25741868|PMID:26096904|PMID:26236732|PMID:26467025|PMID:26896187|PMID:28428247|PMID:28492532|PMID:30311386|PMID:31160754|PMID:9285800|PMID:9819448 12238816 GJB2 gap junction protein beta 2 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant | ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss PMID:10049954|PMID:10376574|PMID:10508996|PMID:10596881|PMID:10903123|PMID:10982182|PMID:11074495|PMID:11102979|PMID:11216656|PMID:11313763|PMID:11386851|PMID:11493200|PMID:11556849|PMID:11584050|PMID:11668644|PMID:11935342|PMID:12189487|PMID:12560944|PMID:12865758|PMID:12925341|PMID:14681040|PMID:14694360|PMID:14722929|PMID:15070423|PMID:15150777|PMID:15365987|PMID:15617550|PMID:15666300|PMID:15967879|PMID:16217030|PMID:16222667|PMID:16380907|PMID:16467727|PMID:16931589|PMID:16950989|PMID:17041943|PMID:17146393|PMID:17666888|PMID:17935238|PMID:18414213|PMID:18758381|PMID:19125024|PMID:19371219|PMID:19384972|PMID:19715472|PMID:19929407|PMID:20086306|PMID:20234132|PMID:20301449|PMID:20381175|PMID:20553101|PMID:20739944|PMID:20863150|PMID:21094084|PMID:21287563|PMID:21465647|PMID:21912263|PMID:22567369|PMID:22613756|PMID:22695344|PMID:22785241|PMID:23266159|PMID:24033266|PMID:24158611|PMID:24256046|PMID:24529908|PMID:24706568|PMID:25162826|PMID:25388846|PMID:25401782|PMID:25741868|PMID:26096904|PMID:26236732|PMID:26346709|PMID:26467025|PMID:26749107|PMID:26763877|PMID:26896187|PMID:27045574|PMID:27247933|PMID:27501294|PMID:27534436|PMID:28428247|PMID:28492532|PMID:29196752|PMID:29501291|PMID:30311386|PMID:30896630|PMID:31160754|PMID:9285800|PMID:9819448 12238816 GJB2 gap junction protein beta 2 gene DOID:9008681 Deafness ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness PMID:10204859|PMID:10218527|PMID:10376574|PMID:10422812|PMID:10477435|PMID:10508996|PMID:10544226|PMID:10607953|PMID:10633133|PMID:10713883|PMID:10751669|PMID:10782932|PMID:10830906|PMID:10982180|PMID:10982182|PMID:11313751|PMID:11313763|PMID:11386851|PMID:11483639|PMID:11493200|PMID:11551104|PMID:11668644|PMID:11807148|PMID:12081719|PMID:12172392|PMID:12176036|PMID:12176179|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12684873|PMID:12786762|PMID:14070830|PMID:14694360|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15070423|PMID:15113126|PMID:15146474|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15666300|PMID:15954104|PMID:15967879|PMID:16088916|PMID:16300957|PMID:16336662|PMID:163800907|PMID:16380907|PMID:16773579|PMID:16849369|PMID:16868655|PMID:17041943|PMID:17428550|PMID:17553572|PMID:17661817|PMID:17993581|PMID:18294064|PMID:18414213|PMID:18804553|PMID:18925674|PMID:18985073|PMID:19173109|PMID:19371219|PMID:19375528|PMID:19925344|PMID:19941053|PMID:20073550|PMID:20236118|PMID:20301449|PMID:20739944|PMID:20815033|PMID:21094084|PMID:21220926|PMID:21465647|PMID:21468573|PMID:21910243|PMID:22037723|PMID:22281373|PMID:22567152|PMID:22855627|PMID:22975760|PMID:22981120|PMID:23489192|PMID:23757202|PMID:24033266|PMID:24039984|PMID:24158611|PMID:24346070|PMID:24793888|PMID:25189242|PMID:25214170|PMID:25637381|PMID:25741868|PMID:25999548|PMID:26059209|PMID:26096904|PMID:26467025|PMID:26896187|PMID:26969326|PMID:2706105|PMID:28492532|PMID:29293505|PMID:29311818|PMID:29362677|PMID:29501291|PMID:30086704|PMID:30303587|PMID:30311386|PMID:30431684|PMID:30872814|PMID:33333757|PMID:33524517|PMID:34440441|PMID:35396755|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9482292|PMID:9600457|PMID:9620796|PMID:9819448 12238816 GJB2 gap junction protein beta 2 gene DOID:9008762 HID Syndrome ISO RGD:1351211 D RGD:7240710 20180130 OMIM 12238816 GJB2 gap junction protein beta 2 gene DOID:9008762 HID Syndrome ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HID SYNDROME | ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10369869|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10980526|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11918723|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12072059|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12548749|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12673800|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12872268|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14978038|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15633193|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15757815|PMID:15769851|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16645853|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17309986|PMID:17330861|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17431919|PMID:17444514|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17660464|PMID:17661817|PMID:17666888|PMID:17671735|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18353197|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18607988|PMID:18668259|PMID:18684989|PMID:18776652|PMID:18804553|PMID:18843290|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19384972|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19877196|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20031451|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20101161|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20956747|PMID:20981092 12238816 GJB2 gap junction protein beta 2 gene DOID:9008762 HID Syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HID SYNDROME | ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness PMID:21055240|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21392827|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21738759|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22103400|PMID:22106692|PMID:22281373|PMID:22384008|PMID:22389666|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22567861|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22704424|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23266159|PMID:23328711|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23684175|PMID:23695287|PMID:23757202|PMID:23797420|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23924173|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24078562|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24158896|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24596593|PMID:24611097|PMID:24612839|PMID:24645897|PMID:24654934|PMID:24706568|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25162826|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25575739|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26763877|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27141831|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27247933|PMID:27398341|PMID:27481527|PMID:27501294|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884173|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29148562|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30466042|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30896630|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:35396755|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098 12238816 GJB2 gap junction protein beta 2 gene DOID:9008762 HID Syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HID SYNDROME | ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448|PMID:9856479 12238825 LACC1 laccase domain containing 1 gene DOID:1024 leprosy ISO RGD:1602651 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 PMID:25741868 12238825 LACC1 laccase domain containing 1 gene DOID:630 genetic disease ISO RGD:1602651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238825 LACC1 laccase domain containing 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1602651 D RGD:7240710 20200318 OMIM 12238825 LACC1 laccase domain containing 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1602651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: JUVENILE ARTHRITIS PMID:25147203|PMID:25220867|PMID:25741868|PMID:27881174|PMID:29717096|PMID:31811059 12238846 COPS5 COP9 signalosome subunit 5 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1321125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 12238846 COPS5 COP9 signalosome subunit 5 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1321125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:28492532 12238846 COPS5 COP9 signalosome subunit 5 gene DOID:630 genetic disease ISO RGD:1321125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238846 COPS5 COP9 signalosome subunit 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1321125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20698225 12238846 COPS5 COP9 signalosome subunit 5 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1321125 D RGD:9068941 20220707 RGD protein:increased expression:liver (human) PMID:26606000|REF_RGD_ID:11354707 12238846 COPS5 COP9 signalosome subunit 5 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1310301 D RGD:9068941 20220707 RGD protein:increased expression:liver (rat) PMID:26606000|REF_RGD_ID:11354707 12238865 VPS13D vacuolar protein sorting 13 homolog D gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1318152 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12238865 VPS13D vacuolar protein sorting 13 homolog D gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1318152 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12238865 VPS13D vacuolar protein sorting 13 homolog D gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1318152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28492532|PMID:31680123 12238865 VPS13D vacuolar protein sorting 13 homolog D gene DOID:0111611 autosomal recessive spinocerebellar ataxia 4 ISO RGD:1318152 D RGD:7240710 20190315 OMIM 12238865 VPS13D vacuolar protein sorting 13 homolog D gene DOID:0111611 autosomal recessive spinocerebellar ataxia 4 ISO RGD:1318152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome PMID:11960835|PMID:25741868|PMID:28492532|PMID:29518281|PMID:29604224|PMID:34906502 12238865 VPS13D vacuolar protein sorting 13 homolog D gene DOID:3652 Leigh disease ISO RGD:1318152 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868 12238865 VPS13D vacuolar protein sorting 13 homolog D gene DOID:630 genetic disease ISO RGD:1318152 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:24776741|PMID:25741868|PMID:28492532|PMID:29518281|PMID:9536098 12238865 VPS13D vacuolar protein sorting 13 homolog D gene DOID:9004657 Weight Gain ISO RGD:1318152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12238865 VPS13D vacuolar protein sorting 13 homolog D gene DOID:9008386 Hydrops Fetalis ISO RGD:1318152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 12238938 CMKLR2 chemerin chemokine-like receptor 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:732710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12238938 CMKLR2 chemerin chemokine-like receptor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12238962 S100A6 S100 calcium binding protein A6 gene DOID:0050902 medulloblastoma ISO RGD:1354055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17579622 12238962 S100A6 S100 calcium binding protein A6 gene DOID:0111940 immunodeficiency 42 ISO RGD:1354055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12238962 S100A6 S100 calcium binding protein A6 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1354055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12238962 S100A6 S100 calcium binding protein A6 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1354055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12238962 S100A6 S100 calcium binding protein A6 gene DOID:13100 intracranial vasospasm ISO RGD:1354055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12186470 12238962 S100A6 S100 calcium binding protein A6 gene DOID:1540 parathyroid carcinoma ISO RGD:1354055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12238962 S100A6 S100 calcium binding protein A6 gene DOID:305 carcinoma ISO RGD:1354055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12238962 S100A6 S100 calcium binding protein A6 gene DOID:5812 MHC class II deficiency ISO RGD:1354055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12238962 S100A6 S100 calcium binding protein A6 gene DOID:630 genetic disease ISO RGD:1354055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12238962 S100A6 S100 calcium binding protein A6 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1354055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12238962 S100A6 S100 calcium binding protein A6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12238962 S100A6 S100 calcium binding protein A6 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1354055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12238962 S100A6 S100 calcium binding protein A6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1354055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12238962 S100A6 S100 calcium binding protein A6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12238962 S100A6 S100 calcium binding protein A6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1354055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12238969 CEP192 centrosomal protein 192 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1605669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12238969 CEP192 centrosomal protein 192 gene DOID:1059 intellectual disability ISO RGD:1605669 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12238969 CEP192 centrosomal protein 192 gene DOID:630 genetic disease ISO RGD:1605669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12239020 SVOPL SVOP like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12239020 SVOPL SVOP like gene DOID:630 genetic disease ISO RGD:1603906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12239020 SVOPL SVOP like gene DOID:9008386 Hydrops Fetalis ISO RGD:1603906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 12239036 NXF1 nuclear RNA export factor 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:737301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12239036 NXF1 nuclear RNA export factor 1 gene DOID:1059 intellectual disability ISO RGD:737301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12239036 NXF1 nuclear RNA export factor 1 gene DOID:630 genetic disease ISO RGD:737301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype:cds:p.V64I(human) PMID:21883707|REF_RGD_ID:8661694 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:0060189 ileitis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:22848538|REF_RGD_ID:8661712 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism: :190A>G(human) PMID:26591766|REF_RGD_ID:14995492 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:0080599 Coronavirus infectious disease ISO RGD:1552061 D RGD:9068941 20220825 MouseDO 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:0080600 COVID-19 ISO RGD:1603716 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:0080600 COVID-19 ISO RGD:1603716 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:33307546 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:0080745 polymyositis ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:limb muscle: PMID:15772970|REF_RGD_ID:8661727 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:10140 dry eye syndrome ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:19597109|REF_RGD_ID:8661637 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:10223 dermatomyositis ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:limb muscle: PMID:15772970|REF_RGD_ID:8661727 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:10303 sialadenitis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:17284325|REF_RGD_ID:8661704 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:106 pleural tuberculosis ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:19159432|REF_RGD_ID:4145106 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:10871 age related macular degeneration ISO RGD:1552061 D RGD:9068941 20220825 MouseDO 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:monocyte: PMID:22789920|REF_RGD_ID:8661669 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:11335 sarcoidosis ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:18513341|REF_RGD_ID:4144898 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:11382 corneal neovascularization ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:12827053|PMID:19421039|REF_RGD_ID:8657360|REF_RGD_ID:9491750 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:11446 sciatic neuropathy ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:24907405|REF_RGD_ID:8661781 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:11716 prediabetes syndrome ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-960T>A (rs3918359) (human) PMID:18096169|REF_RGD_ID:2313557 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:1205 allergic disease ISO RGD:1603716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:12574 posterior uveitis ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.V64I(human) PMID:17417600|REF_RGD_ID:8551817 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:12732 intermediate uveitis susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.V64I(human) PMID:17417600|REF_RGD_ID:8551817 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:10946288|REF_RGD_ID:8661731 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:13378 Kawasaki disease susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype:cds:p.V64I(human) PMID:17672867|REF_RGD_ID:8551811 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:1474 aggressive periodontitis susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype:cds:p.V64I(human) PMID:21264360|REF_RGD_ID:8661707 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:1555 urticaria susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype::190G>A(human) PMID:23727176|REF_RGD_ID:8551831 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:1564 fungal infectious disease ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:22287435|REF_RGD_ID:7483612 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:1577 limited scleroderma ISO RGD:1552061 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:skin: PMID:12925209|REF_RGD_ID:8661733 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:1824 status epilepticus ISO RGD:1603716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19490431|PMID:20034406 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:2030 anxiety disorder ISO RGD:1552061 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy; PMID:24907405|REF_RGD_ID:8661781 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:2799 bronchiolitis obliterans ISO RGD:1552061 D RGD:9068941 20200609 RGD mRNA:increased expression:trachea: PMID:11518728|REF_RGD_ID:4145124 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:2841 asthma ISO RGD:1552061 D RGD:9068941 20200609 RGD protein:increased expression:lung, dendritic cell (mouse) PMID:19917684|REF_RGD_ID:8549811 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:2841 asthma ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:haplotype:cds:p.V64I(human) PMID:23454776|REF_RGD_ID:8551842 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:2841 asthma susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.V64I (human) PMID:17298432|REF_RGD_ID:4145110 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:2957 pulmonary tuberculosis disease_progression ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:11438742|REF_RGD_ID:734715 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:3042 allergic contact dermatitis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:10899907|REF_RGD_ID:8661227 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:3042 allergic contact dermatitis ISO RGD:1603716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:3082 interstitial lung disease severity ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression: T cell PMID:16095529|REF_RGD_ID:4145064 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:3213 demyelinating disease ISO RGD:620876 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:dorsal root ganglion: PMID:18076762|REF_RGD_ID:4890034 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:3310 atopic dermatitis ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:skin,monocyte: PMID:15370700|REF_RGD_ID:8661734 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:16857270|REF_RGD_ID:8657363 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:decreased expression:monocyte: PMID:16857270|REF_RGD_ID:8657363 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:3393 coronary artery disease ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:12426226|REF_RGD_ID:1581178 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:3429 inclusion body myositis ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:limb muscle: PMID:15772970|REF_RGD_ID:8661727 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:3612 retinitis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:24142887|REF_RGD_ID:8661224 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:15743780|REF_RGD_ID:4145065 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1603716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14609568 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:409 liver disease ISO RGD:1603716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12845637 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:418 systemic scleroderma ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:23142052|REF_RGD_ID:9479741 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:4448 macular degeneration ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:16857270|REF_RGD_ID:8657363 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:4448 macular degeneration no_association ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:18172114|REF_RGD_ID:7794843 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:4483 rhinitis susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD Rhinitis, Allergic, Seasonal; DNA:SNP:cds:p.V64I (human) PMID:17135764|REF_RGD_ID:4145111 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:4617 periapical granuloma ISO RGD:1603716 D RGD:9068941 20200609 RGD mRNA:increased expression:gingiva: PMID:16101967|REF_RGD_ID:8661719 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1603716 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:25741868|PMID:9252328|PMID:9662369 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:1603716 D RGD:7240710 20230125 OMIM 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:552 pneumonia ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:14615370|PMID:17284325|REF_RGD_ID:4145068|REF_RGD_ID:8661704 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:552 pneumonia ISO RGD:1603716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:5844 myocardial infarction ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:12719858|PMID:12853162|REF_RGD_ID:1581174|REF_RGD_ID:1581177 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:6000 congestive heart failure ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:12719858|REF_RGD_ID:1581177 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:630 genetic disease ISO RGD:1603716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:823 periapical periodontitis ISO RGD:620876 D RGD:9068941 20200609 RGD PMID:24631631|REF_RGD_ID:8661717 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:8466 retinal degeneration ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:23022404|REF_RGD_ID:8657362 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:850 lung disease ISO RGD:1552061 D RGD:9068941 20200609 RGD acute lung injury PMID:20152938|REF_RGD_ID:4144896 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:850 lung disease ISO RGD:1552061 D RGD:9068941 20200609 RGD acute lung injury associated with anoxia PMID:17222215|REF_RGD_ID:4145002 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:850 lung disease ISO RGD:1603716 D RGD:9068941 20200609 RGD lung injury associated with sepsis; protein:increased expression:macrophage alveolar PMID:19733456|REF_RGD_ID:4144897 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:865 vasculitis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:23074996|REF_RGD_ID:8661749 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:8683 myeloid sarcoma ISO RGD:1603716 D RGD:9068941 20200609 RGD associated with Leukemia, Myeloid, Acute;protein:increased expression:blood, leukocyte PMID:20582977|REF_RGD_ID:8661751 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:874 bacterial pneumonia ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:20042590|REF_RGD_ID:4891443 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:8893 psoriasis ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:skin,monocyte: PMID:15370700|REF_RGD_ID:8661734 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620876 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:18338959|REF_RGD_ID:4144888 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9000226 Periodontal Cyst ISO RGD:1603716 D RGD:9068941 20200609 RGD mRNA:increased expression:gingiva: PMID:16101967|REF_RGD_ID:8661719 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9000585 Intervertebral Disc Disease ISO RGD:620876 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:neuron,macrophage: PMID:24462503|REF_RGD_ID:8661788 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9000641 Pain ISO RGD:1552061 D RGD:9068941 20200609 RGD associated with Osteoarthritis, Knee; PMID:23185004|REF_RGD_ID:8661785 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9000641 Pain ISO RGD:620876 D RGD:9068941 20200609 RGD PMID:18419759|REF_RGD_ID:2307043 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:10438957|REF_RGD_ID:4145126 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9000927 Alveolar Bone Loss ISO RGD:1552061 D RGD:9068941 20200609 RGD associated with Periodontitis; PMID:21241302|REF_RGD_ID:8661687 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9001004 Chronic Periodontitis ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:20059422|REF_RGD_ID:8661721 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:22205983|REF_RGD_ID:8657364 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9001427 Geographic Atrophy ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:24142887|REF_RGD_ID:8661224 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9001472 Nasal Polyps ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:22287435|REF_RGD_ID:7483612 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9001954 Thoracic Injuries ISO RGD:620876 D RGD:9068941 20200609 RGD PMID:20543668|REF_RGD_ID:4144894 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9002159 Liver Reperfusion Injury severity ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:27229110|REF_RGD_ID:14995460 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1552061 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:17631861|REF_RGD_ID:2313558 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:1603716 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.V64I (human) PMID:11756347|REF_RGD_ID:2313563 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:1552061 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy; PMID:24907405|REF_RGD_ID:8661781 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:620876 D RGD:9068941 20200609 RGD PMID:18419759|REF_RGD_ID:2307043 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:620876 D RGD:9068941 20200609 RGD associated with Bone Neoplasms;protein:increased expression:spinal cord: PMID:23511129|REF_RGD_ID:8661772 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:620876 D RGD:9068941 20200609 RGD associated with Demyelinating Diseases; PMID:18076762|REF_RGD_ID:4890034 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:620876 D RGD:9068941 20200609 RGD associated with Intervertebral disc disease; PMID:24462503|REF_RGD_ID:8661788 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:620876 D RGD:9068941 20200609 RGD protein:increased expression:dorsal horn of spinal cord: PMID:22721162|REF_RGD_ID:8548831 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1552061 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:dorsal root ganglion: PMID:23185004|REF_RGD_ID:8661785 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9002457 Experimental Arthritis ISO RGD:620876 D RGD:9068941 20200609 RGD PMID:16320322|REF_RGD_ID:4144893 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9002699 Periapical Diseases ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:20113782|REF_RGD_ID:8661683 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:620876 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:9655467|REF_RGD_ID:632391 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1603716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9002834 Herpesviridae Infections ISO RGD:1552061 D RGD:9068941 20200609 RGD associated with pulmonary fibrosis PMID:18187693|REF_RGD_ID:4144903 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:17075702|REF_RGD_ID:8657356 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1603716 D RGD:9068941 20200609 RGD mRNA:increased expression:Nasal Mucosa PMID:17982926|REF_RGD_ID:4145109 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620876 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:18095591|REF_RGD_ID:4144890 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:22377584|REF_RGD_ID:8661752 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9003969 Peri-Implantitis ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:20059422|REF_RGD_ID:8661721 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:14662900|REF_RGD_ID:8657367 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:19741601|REF_RGD_ID:8661685 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9005396 Intimal Hyperplasia ISO RGD:1552061 D RGD:9068941 20200609 RGD associated with Vascular System Injuries; PMID:20836883|REF_RGD_ID:8661636 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:24736166|REF_RGD_ID:8657357 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9005647 Experimental Autoimmune Uveitis no_association ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:19357362|REF_RGD_ID:8657383 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:1552061 D RGD:9068941 20200609 RGD mRNA:increased expression:eye: PMID:12605265|REF_RGD_ID:8661671 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9006944 Alcoholic Fatty Liver treatment ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:25557254|REF_RGD_ID:14995489 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9007364 Mouth Neoplasms susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:pV64I(human) PMID:21570337|REF_RGD_ID:8661698 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:decreased expression:monocyte: PMID:15786508|REF_RGD_ID:4892017 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9008 psoriatic arthritis susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD associated with Psoriasis;DNA:SNP:p.V64I(rs1799864)(human) PMID:20153665|REF_RGD_ID:8661745 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9065 leishmaniasis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:10899907|REF_RGD_ID:8661227 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1552061 D RGD:9068941 20200609 RGD mRNA:increased expression:foot, lymph node PMID:12874303|REF_RGD_ID:5688168 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:16631114|REF_RGD_ID:2313561 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V64I (human) PMID:10400139|REF_RGD_ID:2313564 12239061 CCR2 C-C motif chemokine receptor 2 gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:12770795|REF_RGD_ID:2313562 12239061 Ccr2 chemokine (C-C motif) receptor 2 gene DOID:11712 lipoatrophic diabetes mellitus ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:19277603|REF_RGD_ID:8657358 12239061 Ccr2 chemokine (C-C motif) receptor 2 gene DOID:9146 visceral leishmaniasis ISO RGD:1552061 D RGD:9068941 20200609 RGD associated with Malnutrition;mRNA:increased expression:lymph node,spleen: PMID:24818662|REF_RGD_ID:8661728 12239075 ILF3 interleukin enhancer binding factor 3 gene DOID:630 genetic disease ISO RGD:731671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12239112 ARHGAP31 Rho GTPase activating protein 31 gene DOID:0060227 Adams-Oliver syndrome ISO RGD:1606256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome PMID:28492532 12239112 ARHGAP31 Rho GTPase activating protein 31 gene DOID:0080600 COVID-19 ISO RGD:1606256 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12239112 ARHGAP31 Rho GTPase activating protein 31 gene DOID:1969 cerebral palsy ISO RGD:1606256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12239112 ARHGAP31 Rho GTPase activating protein 31 gene DOID:630 genetic disease ISO RGD:1606256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12239112 ARHGAP31 Rho GTPase activating protein 31 gene DOID:9004220 Adams-Oliver Syndrome 1 ISO RGD:1606256 D RGD:7240710 20190315 OMIM 12239112 ARHGAP31 Rho GTPase activating protein 31 gene DOID:9004220 Adams-Oliver Syndrome 1 ISO RGD:1606256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 1 PMID:16451141|PMID:21565291|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29924900|PMID:474617 12239128 PRSS36 serine protease 36 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1604524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12239128 PRSS36 serine protease 36 gene DOID:630 genetic disease ISO RGD:1604524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12239150 ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354318 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12239150 ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1354318 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12239150 ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1354318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12239150 ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1354318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 12239150 ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1354318 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12239150 ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1354318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:15879500|PMID:20414677|PMID:28492532 12239150 ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:630 genetic disease ISO RGD:1354318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12239184 CREB3L2 cAMP responsive element binding protein 3 like 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12239184 CREB3L2 cAMP responsive element binding protein 3 like 2 gene DOID:630 genetic disease ISO RGD:1314429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12239200 SNTG2 syntrophin gamma 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1350202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20808228 12239200 SNTG2 syntrophin gamma 2 gene DOID:12849 autistic disorder ISO RGD:1350202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17292328 12239200 SNTG2 syntrophin gamma 2 gene DOID:630 genetic disease ISO RGD:1350202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12239200 SNTG2 syntrophin gamma 2 gene DOID:9002189 High Myopia ISO RGD:1350202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12239220 GNG4 G protein subunit gamma 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1353997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12239220 GNG4 G protein subunit gamma 4 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1353997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:28492532 12239220 GNG4 G protein subunit gamma 4 gene DOID:630 genetic disease ISO RGD:1353997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12239220 GNG4 G protein subunit gamma 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12239235 CLDN16 claudin 16 gene DOID:0060879 primary hypomagnesemia ISO RGD:1351544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hypomagnesemia PMID:10390358|PMID:10878661|PMID:11518780|PMID:15856319|PMID:16234325|PMID:16501001|PMID:16705067|PMID:18003771|PMID:20607983|PMID:24033266|PMID:25477417|PMID:25741868|PMID:25852890|PMID:26426912|PMID:28492532|PMID:28893421|PMID:32860008|PMID:33532864|PMID:668721 12239235 CLDN16 claudin 16 gene DOID:0060880 renal hypomagnesemia 3 ISO RGD:1351544 D RGD:7240710 20180228 OMIM 12239235 CLDN16 claudin 16 gene DOID:0060881 renal hypomagnesemia 5 with ocular involvement ISO RGD:1351544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement 12239235 CLDN16 claudin 16 gene DOID:10763 hypertension ISO RGD:620322 D RGD:9068941 20200609 RGD Protein:decreased serine phosphorylation:kidney PMID:16959063|REF_RGD_ID:1599616 12239235 CLDN16 claudin 16 gene DOID:12679 nephrocalcinosis ISO RGD:1351544 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:10390358|PMID:25741868|PMID:28893421 12239235 CLDN16 claudin 16 gene DOID:447 renal tubular transport disease susceptibility ISO RGD:1351544 D RGD:9068941 20200609 RGD DNA:mutation: ; PRIMARY HYPOMAGNESEMIA, OMIM#248250 PMID:10390358|REF_RGD_ID:1599615 12239235 CLDN16 claudin 16 gene DOID:5419 schizophrenia ISO RGD:1351544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12239235 CLDN16 claudin 16 gene DOID:630 genetic disease ISO RGD:1351544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33532864 12239235 CLDN16 claudin 16 gene DOID:9001738 Hypercalciuria ISO RGD:1351544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercalciuria, childhood, self-limiting PMID:14628289 12239235 CLDN16 claudin 16 gene DOID:9007711 Nisch syndrome ISO RGD:1351544 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome PMID:12164927|PMID:15521008|PMID:16619213|PMID:25741868|PMID:28492532 12239245 LPGAT1 lysophosphatidylglycerol acyltransferase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1353817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12239245 LPGAT1 lysophosphatidylglycerol acyltransferase 1 gene DOID:630 genetic disease ISO RGD:1353817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12239245 LPGAT1 lysophosphatidylglycerol acyltransferase 1 gene DOID:9004657 Weight Gain ISO RGD:1353817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12239245 LPGAT1 lysophosphatidylglycerol acyltransferase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12239267 COL6A6 collagen type VI alpha 6 chain gene DOID:0111947 immunodeficiency 21 ISO RGD:3052729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12239267 COL6A6 collagen type VI alpha 6 chain gene DOID:630 genetic disease ISO RGD:3052729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12239267 COL6A6 collagen type VI alpha 6 chain gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:3052729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868|PMID:28492532 12239267 COL6A6 collagen type VI alpha 6 chain gene DOID:9270 alkaptonuria ISO RGD:3052729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12239308 CD177 CD177 molecule gene DOID:5419 schizophrenia ISO RGD:1603627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12239308 CD177 CD177 molecule gene DOID:630 genetic disease ISO RGD:1603627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12239320 HHIPL1 HHIP like 1 gene DOID:10283 prostate cancer ISO RGD:1349549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12239320 HHIPL1 HHIP like 1 gene DOID:3393 coronary artery disease ISO RGD:1349549 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 12239320 HHIPL1 HHIP like 1 gene DOID:630 genetic disease ISO RGD:1349549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12239345 FAM13B family with sequence similarity 13 member B gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1321412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12239345 FAM13B family with sequence similarity 13 member B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321412 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12239345 FAM13B family with sequence similarity 13 member B gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1321412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12239345 FAM13B family with sequence similarity 13 member B gene DOID:630 genetic disease ISO RGD:1321412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12239345 FAM13B family with sequence similarity 13 member B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12239345 FAM13B family with sequence similarity 13 member B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321412 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12239400 DNAJC28 DnaJ heat shock protein family (Hsp40) member C28 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1353353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12239400 DNAJC28 DnaJ heat shock protein family (Hsp40) member C28 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1353353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12239400 DNAJC28 DnaJ heat shock protein family (Hsp40) member C28 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1353353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12239400 DNAJC28 DnaJ heat shock protein family (Hsp40) member C28 gene DOID:630 genetic disease ISO RGD:1353353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12239400 DNAJC28 DnaJ heat shock protein family (Hsp40) member C28 gene DOID:9005698 ZTTK Syndrome ISO RGD:1353353 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 12239524 PHLDB2 pleckstrin homology like domain family B member 2 gene DOID:0060224 atrial fibrillation ISO RGD:1350676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12239524 PHLDB2 pleckstrin homology like domain family B member 2 gene DOID:630 genetic disease ISO RGD:1350676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12239554 TP53I11 tumor protein p53 inducible protein 11 gene DOID:1059 intellectual disability ISO RGD:1318140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12239565 SNX21 sorting nexin family member 21 gene DOID:2234 focal epilepsy ISO RGD:1322486 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12239565 SNX21 sorting nexin family member 21 gene DOID:630 genetic disease ISO RGD:1322486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12239565 SNX21 sorting nexin family member 21 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1322486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12239573 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:25741868|PMID:26477325|PMID:28252636|PMID:28492532|PMID:28806457|PMID:29264397|PMID:31512327|PMID:31513310|PMID:31600826|PMID:32581362|PMID:32954514|PMID:33951346 12239573 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:732211 D RGD:7240710 20180130 OMIM 12239573 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:732211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 | ClinVar Annotator: match by term: KCNB1-related disorder PMID:17576681|PMID:19029374|PMID:25131622|PMID:25164438|PMID:25741868|PMID:26467025|PMID:26477325|PMID:26503721|PMID:26648591|PMID:27652284|PMID:27928161|PMID:28173649|PMID:28252636|PMID:28492532|PMID:28806457|PMID:29264397|PMID:29322350|PMID:31512327|PMID:31513310|PMID:31600826|PMID:31780880|PMID:31791873|PMID:32036363|PMID:32581362|PMID:32954514|PMID:33132203|PMID:33951346|PMID:8698327|PMID:9536098 12239573 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:0080461 developmental and epileptic encephalopathy 26 exacerbates ISO RGD:732212 D RGD:9068941 20210507 RGD DNA:missense mutation:CDS:p.G379R (mouse) PMID:33132203|REF_RGD_ID:126908009 12239573 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:0080461 developmental and epileptic encephalopathy 26 susceptibility ISO RGD:732211 D RGD:9068941 20210507 RGD DNA:missense mutations, nonsense mutations, frameshift mutation:CDS:multiple (human) PMID:28806457|REF_RGD_ID:126908008 12239573 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:28492532|PMID:31600826|PMID:32954514 12239573 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:1059 intellectual disability ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26477325|PMID:27652284|PMID:28492532|PMID:28806457|PMID:29264397|PMID:31512327|PMID:31513310|PMID:31600826|PMID:32581362|PMID:32954514 12239573 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:12377 spinal muscular atrophy ISO RGD:732212 D RGD:9068941 20210507 RGD protein:decreased expression:second lumbar spinal cord segment, motor neuron, neuronal cell body (mouse) PMID:28504671|REF_RGD_ID:126908005 12239573 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:1826 epilepsy ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:31600826|PMID:32954514 12239573 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:1826 epilepsy disease_progression ISO RGD:732212 D RGD:9068941 20210507 RGD PMID:24494598|REF_RGD_ID:126908006 12239573 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:1826 epilepsy susceptibility ISO RGD:732211 D RGD:9068941 20210507 RGD DNA:missense mutations, nonsense mutations, frameshift mutation:CDS:multiple (human) PMID:32954514|REF_RGD_ID:126908007 12239573 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:5419 schizophrenia ISO RGD:732211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26240432 12239573 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:630 genetic disease ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1881453|PMID:23705070|PMID:25164438|PMID:25741868|PMID:27652284|PMID:28492532|PMID:31600826|PMID:33144682|PMID:8398157|PMID:8541859|PMID:9526001 12239573 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2954 D RGD:9068941 20210507 RGD protein:decreased expression:tibial nerve, motor neuron, neuronal cell body (rat) PMID:24355600|REF_RGD_ID:126908004 12239573 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25164438|PMID:25741868|PMID:26477325|PMID:28492532|PMID:28806457|PMID:29264397|PMID:31512327|PMID:31513310|PMID:31600826|PMID:32581362|PMID:32954514 12239573 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:28492532 12239573 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:732211 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Myoclonic absence seizure PMID:25741868|PMID:26477325|PMID:28492532|PMID:28806457|PMID:29264397|PMID:31512327|PMID:31513310|PMID:32581362 12239573 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:28492532|PMID:31600826|PMID:32954514 12239573 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:732211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12239573 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:9007114 Mobility Limitation ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:25741868|PMID:28492532|PMID:31600826|PMID:32954514 12239573 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:732211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15088113 12239585 ACTRT3 actin related protein T3 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1607001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 12239585 ACTRT3 actin related protein T3 gene DOID:1062 Fanconi syndrome ISO RGD:1607001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 12239585 ACTRT3 actin related protein T3 gene DOID:630 genetic disease ISO RGD:1607001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12239596 NPY4R neuropeptide Y receptor Y4 gene DOID:5419 schizophrenia ISO RGD:731662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12239596 NPY4R neuropeptide Y receptor Y4 gene DOID:630 genetic disease ISO RGD:731662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12239601 ULK2 unc-51 like autophagy activating kinase 2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1320930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12239601 ULK2 unc-51 like autophagy activating kinase 2 gene DOID:10283 prostate cancer ISO RGD:1320930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12239601 ULK2 unc-51 like autophagy activating kinase 2 gene DOID:12849 autistic disorder ISO RGD:1320930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12239601 ULK2 unc-51 like autophagy activating kinase 2 gene DOID:1790 malignant mesothelioma ISO RGD:1320930 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 12239601 ULK2 unc-51 like autophagy activating kinase 2 gene DOID:630 genetic disease ISO RGD:1320930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12239601 ULK2 unc-51 like autophagy activating kinase 2 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1320930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 12239635 PERM1 PPARGC1 and ESRR induced regulator, muscle 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606208 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12239656 FCSK fucose kinase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1315934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12239656 FCSK fucose kinase gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1315934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12239656 FCSK fucose kinase gene DOID:0070262 congenital disorder of glycosylation type IIj ISO RGD:1315934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COG4-CDG PMID:19494034 12239656 FCSK fucose kinase gene DOID:630 genetic disease ISO RGD:1315934 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12239656 FCSK fucose kinase gene DOID:9001022 Congenital Disorder of Glycosylation with Defective Fucosylation ISO RGD:1315934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation PMID:28492532 12239656 FCSK fucose kinase gene DOID:9001746 Congenital Disorder of Glycosylation with Defective Fucosylation 2 ISO RGD:1315934 D RGD:7240710 20190315 OMIM 12239656 FCSK fucose kinase gene DOID:9001746 Congenital Disorder of Glycosylation with Defective Fucosylation 2 ISO RGD:1315934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation 2 PMID:16199547|PMID:25741868|PMID:28492532|PMID:30503518 12239710 RBBP9 RB binding protein 9, serine hydrolase gene DOID:0111401 congenital dyserythropoietic anemia type II ISO RGD:1349258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II PMID:28492532 12239710 RBBP9 RB binding protein 9, serine hydrolase gene DOID:630 genetic disease ISO RGD:1349258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12239719 GTF2A1 general transcription factor IIA subunit 1 gene DOID:630 genetic disease ISO RGD:733620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12239732 SCNM1 sodium channel modifier 1 gene DOID:0080422 Dravet syndrome ISO RGD:36174167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 12239732 SCNM1 sodium channel modifier 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:36174167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12239732 SCNM1 sodium channel modifier 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:36174167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12239732 SCNM1 sodium channel modifier 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:36174167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12239732 SCNM1 sodium channel modifier 1 gene DOID:1540 parathyroid carcinoma ISO RGD:36174167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12239732 SCNM1 sodium channel modifier 1 gene DOID:5812 MHC class II deficiency ISO RGD:36174167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12239732 SCNM1 sodium channel modifier 1 gene DOID:630 genetic disease ISO RGD:36174167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12239732 SCNM1 sodium channel modifier 1 gene DOID:9000935 Orofaciodigital Syndrome XIX ISO RGD:36174167 D RGD:7240710 20221102 OMIM 12239732 SCNM1 sodium channel modifier 1 gene DOID:9000935 Orofaciodigital Syndrome XIX ISO RGD:36174167 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XIX PMID:36084634 12239732 SCNM1 sodium channel modifier 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:36174167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12239745 RFX8 regulatory factor X8 gene DOID:630 genetic disease ISO RGD:2793201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12239783 AICDA activation induced cytidine deaminase gene DOID:0050211 swine influenza disease_progression ISO RGD:1347771 D RGD:9068941 20200626 RGD PMID:23028320|REF_RGD_ID:32716383 12239783 AICDA activation induced cytidine deaminase gene DOID:0050211 swine influenza treatment ISO RGD:1347771 D RGD:9068941 20200702 RGD PMID:22281510|REF_RGD_ID:32716408 12239783 AICDA activation induced cytidine deaminase gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1347771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12239783 AICDA activation induced cytidine deaminase gene DOID:0060758 immunodeficiency with hyper-IgM type 2 ISO RGD:1347771 D RGD:7240710 20180829 OMIM 12239783 AICDA activation induced cytidine deaminase gene DOID:0060758 immunodeficiency with hyper-IgM type 2 ISO RGD:1347771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 PMID:11007475|PMID:11112359|PMID:12715918|PMID:12910268|PMID:14564357|PMID:14769937|PMID:14962793|PMID:15358621|PMID:15893695|PMID:16199547|PMID:16964591|PMID:17560278|PMID:17576681|PMID:18838546|PMID:20652909|PMID:21192628|PMID:22715099|PMID:23803409|PMID:24033266|PMID:24349193|PMID:24591601|PMID:25025377|PMID:25064858|PMID:25741868|PMID:26551569|PMID:27142677|PMID:27577878|PMID:28492532|PMID:32423680|PMID:9536098 12239783 AICDA activation induced cytidine deaminase gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1347771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12239783 AICDA activation induced cytidine deaminase gene DOID:0080544 hyper IgM syndrome ISO RGD:1347771 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12239783 AICDA activation induced cytidine deaminase gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1347771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12239783 AICDA activation induced cytidine deaminase gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1347771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12239783 AICDA activation induced cytidine deaminase gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1551301 D RGD:9068941 20200609 RGD PMID:20357822|REF_RGD_ID:11039456 12239783 AICDA activation induced cytidine deaminase gene DOID:0111546 Currarino syndrome ISO RGD:1347771 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:25741868 12239783 AICDA activation induced cytidine deaminase gene DOID:0111621 Temtamy syndrome ISO RGD:1347771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12239783 AICDA activation induced cytidine deaminase gene DOID:1037 lymphoid leukemia ISO RGD:1347771 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23589568 12239783 AICDA activation induced cytidine deaminase gene DOID:12365 malaria ISO RGD:1551301 D RGD:9068941 20200625 RGD protein:increased expression: B cell PMID:27980783|REF_RGD_ID:30310233 12239783 AICDA activation induced cytidine deaminase gene DOID:1273 respiratory syncytial virus infectious disease treatment ISO RGD:1551301 D RGD:9068941 20210625 RGD PMID:27721128|REF_RGD_ID:127285642 12239783 AICDA activation induced cytidine deaminase gene DOID:2043 hepatitis B treatment ISO RGD:1551301 D RGD:9068941 20200625 RGD PMID:28063995|REF_RGD_ID:30310232 12239783 AICDA activation induced cytidine deaminase gene DOID:2959 hyperimmunoglobulin syndrome ISO RGD:1347771 D RGD:9068941 20200609 RGD DNA:missense mutations:CDS:p.E58K (c.172G>A), p.C87R (c.259T>C), p.L113P (c.338T>C) (human) PMID:17553565|REF_RGD_ID:11039457 12239783 AICDA activation induced cytidine deaminase gene DOID:2959 hyperimmunoglobulin syndrome ISO RGD:1347771 D RGD:9068941 20200609 RGD DNA:splice-site mutation:intron:IVS2+1G>T (human) PMID:15372234|REF_RGD_ID:11039485 12239783 AICDA activation induced cytidine deaminase gene DOID:2959 hyperimmunoglobulin syndrome onset ISO RGD:1347771 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutation:exon:p.W84X, p.R112C, p.R112H (human) PMID:11112359|REF_RGD_ID:11039483 12239783 AICDA activation induced cytidine deaminase gene DOID:2959 hyperimmunoglobulin syndrome susceptibility ISO RGD:1347771 D RGD:9068941 20200609 RGD PMID:11007475|REF_RGD_ID:1598906 12239783 AICDA activation induced cytidine deaminase gene DOID:3721 plasmacytoma treatment ISO RGD:1551301 D RGD:9068941 20200609 RGD PMID:20404277|REF_RGD_ID:11039454 12239783 AICDA activation induced cytidine deaminase gene DOID:4029 gastritis ISO RGD:1551301 D RGD:9068941 20200609 RGD associated with Autoimmune Diseases PMID:18716662|REF_RGD_ID:11039453 12239783 AICDA activation induced cytidine deaminase gene DOID:417 autoimmune disease ISO RGD:1347771 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21305519 12239783 AICDA activation induced cytidine deaminase gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1347771 D RGD:9068941 20210625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:30219203|REF_RGD_ID:127285639 12239783 AICDA activation induced cytidine deaminase gene DOID:630 genetic disease ISO RGD:1347771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12239783 AICDA activation induced cytidine deaminase gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1347771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome PMID:24033266|PMID:25741868|PMID:28492532 12239783 AICDA activation induced cytidine deaminase gene DOID:684 hepatocellular carcinoma ISO RGD:731885 D RGD:9068941 20210625 RGD PMID:18997814|REF_RGD_ID:127285629 12239783 AICDA activation induced cytidine deaminase gene DOID:707 B-cell lymphoma ISO RGD:1551301 D RGD:9068941 20200609 RGD PMID:17251349|REF_RGD_ID:11039449 12239783 AICDA activation induced cytidine deaminase gene DOID:9000081 Lymphatic Metastasis ISO RGD:1347771 D RGD:9068941 20210625 RGD associated with stomach cancer;protein:increased expression:stomach (human) PMID:21538122|REF_RGD_ID:127285638 12239783 AICDA activation induced cytidine deaminase gene DOID:9000242 Lymphoma, AIDS-Related disease_progression ISO RGD:1347771 D RGD:9068941 20200702 RGD PMID:18090274|REF_RGD_ID:32716407 12239783 AICDA activation induced cytidine deaminase gene DOID:9000386 Polyomavirus Infections ISO RGD:1347771 D RGD:9068941 20200625 RGD associated with Merkel cell carcinoma;protein:decreased expression:: PMID:28959124|REF_RGD_ID:30310234 12239783 AICDA activation induced cytidine deaminase gene DOID:9000509 Epstein-Barr Virus Infections ISO RGD:1347771 D RGD:9068941 20200626 RGD associated with malaria;mRNA:increased expression:B cell PMID:25099163|REF_RGD_ID:32716377 12239783 AICDA activation induced cytidine deaminase gene DOID:9000509 Epstein-Barr Virus Infections ISO RGD:1347771 D RGD:9068941 20200709 RGD mRNA:increased expression:T cell, natural killer cell PMID:21697063|REF_RGD_ID:32716387 12239783 AICDA activation induced cytidine deaminase gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1551301 D RGD:9068941 20200626 RGD PMID:26456931|REF_RGD_ID:11098923 12239783 AICDA activation induced cytidine deaminase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:1347771 D RGD:9068941 20200609 RGD PMID:21133730|REF_RGD_ID:11039455 12239783 AICDA activation induced cytidine deaminase gene DOID:9002473 Blast Crisis ISO RGD:1347771 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21570118 12239783 AICDA activation induced cytidine deaminase gene DOID:9003369 Strongylida Infections ISO RGD:1551301 D RGD:9068941 20200702 RGD PMID:23630966|REF_RGD_ID:32716404 12239783 AICDA activation induced cytidine deaminase gene DOID:9004017 Chronic Hepatitis C ISO RGD:1347771 D RGD:9068941 20200618 RGD mRNA:increased expression:B cell PMID:26219420|REF_RGD_ID:30296664 12239783 AICDA activation induced cytidine deaminase gene DOID:9004017 Chronic Hepatitis C ISO RGD:1347771 D RGD:9068941 20200626 RGD mRNA, protein:increased expression:B cell, CD19-positive (human) PMID:20189883|REF_RGD_ID:32716380 12239783 AICDA activation induced cytidine deaminase gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1347771 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26946048|REF_RGD_ID:32716369 12239783 AICDA activation induced cytidine deaminase gene DOID:9004092 cryoglobulinemic vasculitis ISO RGD:1347771 D RGD:9068941 20200618 RGD associated with Chronic Hepatitis C; mRNA:increased expression:B cell, CD19-positive (human) PMID:26219420|REF_RGD_ID:30296664 12239783 AICDA activation induced cytidine deaminase gene DOID:9005099 Salmonella Infections, Animal severity ISO RGD:1551301 D RGD:9068941 20210625 RGD PMID:29743315|REF_RGD_ID:127285640 12239783 AICDA activation induced cytidine deaminase gene DOID:9006644 Retroviridae Infections exacerbates ISO RGD:1551301 D RGD:9068941 20210625 RGD PMID:16782033|REF_RGD_ID:127285628 12239783 AICDA activation induced cytidine deaminase gene DOID:9006644 Retroviridae Infections treatment ISO RGD:1551301 D RGD:9068941 20210625 RGD PMID:25378499|REF_RGD_ID:127285643 12239783 AICDA activation induced cytidine deaminase gene DOID:9007339 Alphavirus Infections severity ISO RGD:1551301 D RGD:9068941 20210625 RGD PMID:29321331|REF_RGD_ID:127285644 12239783 AICDA activation induced cytidine deaminase gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1347771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12239783 AICDA activation induced cytidine deaminase gene DOID:9008114 Helicobacter Infections ISO RGD:1347771 D RGD:9068941 20210625 RGD protein:increased expression:mucosa of stomach (human) PMID:23591766|REF_RGD_ID:127285627 12239783 AICDA activation induced cytidine deaminase gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1347771 D RGD:9068941 20200609 RGD PMID:19759560|REF_RGD_ID:11039451 12239783 Aicda activation-induced cytidine deaminase gene DOID:9146 visceral leishmaniasis ISO RGD:1551301 D RGD:9068941 20200626 RGD mRNA:altered expression:Bcell,CD4Tcell PMID:31001826|REF_RGD_ID:32716386 12239792 CYP2B6 cytochrome P450 2B11 gene DOID:0050742 nicotine dependence ISO RGD:1346751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20418888 12239792 CYP2B6 cytochrome P450 2B11 gene DOID:0060041 autism spectrum disorder ISO RGD:1346751 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12239792 CYP2B6 cytochrome P450 2B11 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1346751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12239792 CYP2B6 cytochrome P450 2B11 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1346751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12239792 CYP2B6 cytochrome P450 2B11 gene DOID:13580 cholestasis ISO RGD:1558311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461449 12239792 CYP2B6 cytochrome P450 2B11 gene DOID:2340 craniosynostosis ISO RGD:1346751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12239792 CYP2B6 cytochrome P450 2B11 gene DOID:3071 gliosarcoma ISO RGD:1346751 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11389073|PMID:9766669 12239792 CYP2B6 cytochrome P450 2B11 gene DOID:399 tuberculosis treatment ISO RGD:1346751 D RGD:9068941 20210219 RGD DNA:SNPs: :c.516G>T (rs3745274) and c.785A>G (rs2279343)(human) PMID:28389387|REF_RGD_ID:41410886 12239792 CYP2B6 cytochrome P450 2B11 gene DOID:399 tuberculosis treatment ISO RGD:1346751 D RGD:9068941 20210219 RGD associated with human immunodeficiency virus infectious disease; ;DNA:SNP: :516G>T (rs3745274)(human) PMID:30239753|REF_RGD_ID:41412160 12239792 CYP2B6 cytochrome P450 2B11 gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:1346751 D RGD:9068941 20210219 RGD DNA:SNPs: :516G>T,983T>C (human) PMID:18281305|REF_RGD_ID:11097175 12239792 CYP2B6 cytochrome P450 2B11 gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:1346751 D RGD:9068941 20210219 RGD DNA:haplotype: :CYP2B6*6(human) PMID:21862974|REF_RGD_ID:11098366 12239792 CYP2B6 cytochrome P450 2B11 gene DOID:630 genetic disease ISO RGD:1346751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12239792 CYP2B6 cytochrome P450 2B11 gene DOID:684 hepatocellular carcinoma ISO RGD:1346751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12239792 CYP2B6 cytochrome P450 2B11 gene DOID:783 end stage renal disease ISO RGD:1346751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15248218 12239792 CYP2B6 cytochrome P450 2B11 gene DOID:9001273 Efavirenz, Poor Metabolism of ISO RGD:1346751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Efavirenz, poor metabolism of PMID:15194512|PMID:15622315|PMID:15668854|PMID:15825040|PMID:15864119|PMID:16267764|PMID:16392089|PMID:16495778|PMID:16857630|PMID:17047492|PMID:17235330|PMID:17356468|PMID:17918089|PMID:17968817|PMID:18057928|PMID:18281305|PMID:18503405|PMID:18655316|PMID:18728241|PMID:18784455|PMID:18839779|PMID:19124658|PMID:19218571|PMID:19228205|PMID:19371316|PMID:19433561|PMID:19474465|PMID:19531981|PMID:19659438|PMID:19704172|PMID:19779319|PMID:20338069|PMID:20441246|PMID:20625352|PMID:20639527|PMID:20720517|PMID:20723261|PMID:20841522|PMID:20860463|PMID:20952418|PMID:21393201|PMID:21441248|PMID:21633320|PMID:21715435|PMID:21860339|PMID:22057858|PMID:22111602|PMID:22354160|PMID:22471906|PMID:22481606|PMID:22680342|PMID:22927450|PMID:22950382|PMID:22992668|PMID:23080225|PMID:23172109|PMID:23254426|PMID:23399569|PMID:23418033|PMID:23640958|PMID:23734829|PMID:23763943|PMID:23859571|PMID:23970651|PMID:23982262|PMID:24080498|PMID:24145522|PMID:24217698|PMID:24299220|PMID:24316028|PMID:24517233|PMID:24521642|PMID:24551111|PMID:24831655|PMID:24956253|PMID:25303294|PMID:25501988|PMID:25611810|PMID:25669165|PMID:25831219|PMID:25882300|PMID:25889207|PMID:25974723|PMID:26107645|PMID:26196596|PMID:26348712|PMID:26774523|PMID:26779253|PMID:26831894|PMID:27195527|PMID:27299708|PMID:27655857|PMID:28145050|PMID:28187506|PMID:28492729|PMID:28692529|PMID:28718515|PMID:28816644|PMID:28886044|PMID:28947469|PMID:29624706|PMID:31628422|PMID:32106141|PMID:32209837 12239792 CYP2B6 cytochrome P450 2B11 gene DOID:9001273 Efavirenz, Poor Metabolism of susceptibility ISO RGD:1346751 D RGD:7240710 20230505 OMIM 12239792 CYP2B6 cytochrome P450 2B11 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1346751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12239792 CYP2B6 cytochrome P450 2B11 gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features susceptibility ISO RGD:1346751 D RGD:9068941 20200609 RGD DNA:polymorphism:G15631T PMID:19144407|REF_RGD_ID:6480472 12239792 CYP2B6 cytochrome P450 2B11 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1558311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22342832 12239792 CYP2B6 cytochrome P450 2B11 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346751 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:28762043|PMID:33814510 12239792 CYP2B6 cytochrome P450 2B11 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1346751 D RGD:9068941 20200609 RGD DNA:polymorphism:G15631T PMID:19144407|REF_RGD_ID:6480472 12239792 CYP2B6 cytochrome P450 2B11 gene DOID:9269 maple syrup urine disease ISO RGD:1346751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12239805 PLAA phospholipase A2 activating protein gene DOID:0090020 split hand-foot malformation ISO RGD:737277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectrodactyly PMID:16199547|PMID:25741868|PMID:28492532|PMID:30755392 12239805 PLAA phospholipase A2 activating protein gene DOID:630 genetic disease ISO RGD:737277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:25741868|PMID:28492532|PMID:30755392 12239805 PLAA phospholipase A2 activating protein gene DOID:9005372 Inflammation ISO RGD:737277 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11094054 12239805 PLAA phospholipase A2 activating protein gene DOID:9006140 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies ISO RGD:737277 D RGD:7240710 20190315 OMIM 12239805 PLAA phospholipase A2 activating protein gene DOID:9006140 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies ISO RGD:737277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies PMID:25741868|PMID:28007986|PMID:28413018|PMID:28492532|PMID:31322726 12239828 NAA35 N-alpha-acetyltransferase 35, NatC auxiliary subunit gene DOID:630 genetic disease ISO RGD:1347911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12239867 THOP1 thimet oligopeptidase 1 gene DOID:630 genetic disease ISO RGD:68460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12239867 THOP1 thimet oligopeptidase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12239884 SOX6 SRY-box transcription factor 6 gene DOID:0050700 cardiomyopathy ISO RGD:1319099 D RGD:9068941 20230323 RGD PMID:26029872|REF_RGD_ID:158014899 12239884 SOX6 SRY-box transcription factor 6 gene DOID:0080000 muscular disease ISO RGD:1319099 D RGD:9068941 20200609 RGD PMID:10760285|REF_RGD_ID:1580857 12239884 SOX6 SRY-box transcription factor 6 gene DOID:1059 intellectual disability ISO RGD:1319098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12239884 SOX6 SRY-box transcription factor 6 gene DOID:3070 high grade glioma ISO RGD:1319098 D RGD:9068941 20200609 RGD PMID:15696967|REF_RGD_ID:1580007 12239884 SOX6 SRY-box transcription factor 6 gene DOID:630 genetic disease ISO RGD:1319098 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12239884 SOX6 SRY-box transcription factor 6 gene DOID:9003163 Heart Block ISO RGD:1319099 D RGD:9068941 20200609 RGD PMID:10760285|REF_RGD_ID:1580857 12239884 SOX6 SRY-box transcription factor 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319098 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32442410 12239884 SOX6 SRY-box transcription factor 6 gene DOID:9005634 Tolchin-Le Caignec Syndrome ISO RGD:1319098 D RGD:7240710 20200812 OMIM 12239884 SOX6 SRY-box transcription factor 6 gene DOID:9005634 Tolchin-Le Caignec Syndrome ISO RGD:1319098 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Tolchin-Le Caignec syndrome PMID:25741868|PMID:32442410 12239884 SOX6 SRY-box transcription factor 6 gene DOID:9007692 Insulin Resistance ISO RGD:1319099 D RGD:9068941 20200609 RGD PMID:16148004|REF_RGD_ID:1581307 12239884 SOX6 SRY-box transcription factor 6 gene DOID:9008582 Developmental Disease ISO RGD:1319098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12239972 ABLIM1 actin binding LIM protein 1 gene DOID:303 substance-related disorder ISO RGD:1346152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12239972 ABLIM1 actin binding LIM protein 1 gene DOID:630 genetic disease ISO RGD:1346152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240031 RAD17 RAD17 checkpoint clamp loader component gene DOID:630 genetic disease ISO RGD:1319895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240031 RAD17 RAD17 checkpoint clamp loader component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12240053 LOC478277 creatine kinase U-type, mitochondrial gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1603442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 16 PMID:25741868 12240053 LOC478277 creatine kinase U-type, mitochondrial gene DOID:2717 Bloom syndrome ISO RGD:1603442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12240053 LOC478277 creatine kinase U-type, mitochondrial gene DOID:630 genetic disease ISO RGD:1603442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240053 LOC478277 creatine kinase U-type, mitochondrial gene DOID:9002477 Sensorineural Deafness and Male Infertility ISO RGD:1603442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness-infertility syndrome PMID:25741868 12240053 LOC478277 creatine kinase U-type, mitochondrial gene DOID:9004538 Hearing Loss ISO RGD:1603442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment 12240053 LOC478277 creatine kinase U-type, mitochondrial gene DOID:9256 colorectal cancer ISO RGD:1603442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12240066 ST6GAL1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:0060575 3MC syndrome 1 ISO RGD:1601776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 12240066 ST6GAL1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:1574 alcohol use disorder severity ISO RGD:1601776 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver: PMID:17697868|REF_RGD_ID:10043133 12240066 ST6GAL1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1601776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 12240066 ST6GAL1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:3070 high grade glioma treatment ISO RGD:3676 D RGD:9068941 20200609 RGD PMID:11559557|REF_RGD_ID:10043143 12240066 ST6GAL1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:630 genetic disease ISO RGD:1601776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240066 ST6GAL1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736316 D RGD:9068941 20200609 RGD protein:increased activity:liver: PMID:9331085|REF_RGD_ID:10043141 12240066 ST6GAL1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:9008691 Liver Injury ISO RGD:736316 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:19046688|REF_RGD_ID:10043142 12240066 ST6GAL1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1601776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21874001 12240081 NUMB NUMB endocytic adaptor protein gene DOID:1059 intellectual disability ISO RGD:1348962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12240081 NUMB NUMB endocytic adaptor protein gene DOID:630 genetic disease ISO RGD:1348962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240108 AMOT angiomotin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12240108 AMOT angiomotin gene DOID:12849 autistic disorder ISO RGD:1344662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12240108 AMOT angiomotin gene DOID:5419 schizophrenia ISO RGD:1344662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12240108 AMOT angiomotin gene DOID:630 genetic disease ISO RGD:1344662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12240108 AMOT angiomotin gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1344662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 12240108 AMOT angiomotin gene DOID:9007502 Brain Neoplasms ISO RGD:1344662 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 12240130 CNNM3 cyclin and CBS domain divalent metal cation transport mediator 3 gene DOID:1059 intellectual disability ISO RGD:1317403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12240130 CNNM3 cyclin and CBS domain divalent metal cation transport mediator 3 gene DOID:5419 schizophrenia ISO RGD:1317403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12240130 CNNM3 cyclin and CBS domain divalent metal cation transport mediator 3 gene DOID:630 genetic disease ISO RGD:1317403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240144 GLP1R glucagon like peptide 1 receptor gene DOID:10603 glucose intolerance susceptibility ISO RGD:10655 D RGD:9068941 20200609 RGD PMID:8898756|REF_RGD_ID:1624349 12240144 GLP1R glucagon like peptide 1 receptor gene DOID:10763 hypertension ISO RGD:2703 D RGD:9068941 20200609 RGD PMID:12093887|REF_RGD_ID:625448 12240144 GLP1R glucagon like peptide 1 receptor gene DOID:10763 hypertension ISO RGD:736638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 12240144 GLP1R glucagon like peptide 1 receptor gene DOID:14566 disease of cellular proliferation ISO RGD:736638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23471186 12240144 GLP1R glucagon like peptide 1 receptor gene DOID:1824 status epilepticus ISO RGD:10655 D RGD:9068941 20200609 RGD PMID:12925848|REF_RGD_ID:1598440 12240144 GLP1R glucagon like peptide 1 receptor gene DOID:4195 hyperglycemia ISO RGD:2703 D RGD:9068941 20200609 RGD PMID:15879053|REF_RGD_ID:1624350 12240144 GLP1R glucagon like peptide 1 receptor gene DOID:630 genetic disease ISO RGD:736638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240144 GLP1R glucagon like peptide 1 receptor gene DOID:9002221 Hyperplasia ISO RGD:736638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23471186 12240144 GLP1R glucagon like peptide 1 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2703 D RGD:9068941 20200609 RGD PMID:10580413|REF_RGD_ID:1624356 12240144 GLP1R glucagon like peptide 1 receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:736638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 12240144 GLP1R glucagon like peptide 1 receptor gene DOID:9970 obesity ISO RGD:2703 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus medial zone PMID:15279492|REF_RGD_ID:1624351 12240161 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:0060043 sexual health disorder ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19295509 12240161 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:0081182 autosomal recessive intellectual developmental disorder 6 ISO RGD:733691 D RGD:7240710 20180130 OMIM 12240161 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:0081182 autosomal recessive intellectual developmental disorder 6 ISO RGD:733691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 6 PMID:17847003|PMID:25039795|PMID:25627829|PMID:25741868|PMID:28492532 12240161 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:0111962 combined immunodeficiency ISO RGD:733691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25039795|PMID:25627829 12240161 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:1059 intellectual disability ISO RGD:733691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28180184|PMID:34375587 12240161 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:12849 autistic disorder ISO RGD:733691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:34375587 12240161 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:12858 Huntington's disease onset ISO RGD:733691 D RGD:9068941 20200609 RGD DNA:repeat: (human) PMID:10522893|REF_RGD_ID:1358638 12240161 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:1826 epilepsy ISO RGD:733691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:34375587 12240161 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:303 substance-related disorder ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12240161 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:3068 glioblastoma ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12240161 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:3312 bipolar disorder ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18332879 12240161 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12240161 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:5419 schizophrenia ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18923069 12240161 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:26614431 12240161 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:733691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined T and B cell immunodeficiency PMID:25039795|PMID:25627829 12240161 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:630 genetic disease ISO RGD:733691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28180184|PMID:34375587 12240161 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12240161 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12240161 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12240161 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12240161 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9004009 Reperfusion Injury ISO RGD:2733 D RGD:9068941 20200609 RGD PMID:17639597|REF_RGD_ID:2316528 12240161 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9005714 NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES ISO RGD:733691 D RGD:7240710 20221221 OMIM 12240161 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9005714 NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES ISO RGD:733691 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired language and ataxia and with or without seizures PMID:25741868|PMID:28180184|PMID:28492532|PMID:34375587 12240161 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9007188 Liver Neoplasms ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12240161 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9008582 Developmental Disease ISO RGD:733691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12240161 GRIK2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9008939 Breast Neoplasms ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12240199 GALM galactose mutarotase gene DOID:0080690 RASopathy ISO RGD:1350990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12240199 GALM galactose mutarotase gene DOID:11211 buphthalmos ISO RGD:1350990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glaucoma PMID:19234632|PMID:28492532|PMID:31251480|PMID:9097971|PMID:9497261 12240199 GALM galactose mutarotase gene DOID:3883 Lynch syndrome ISO RGD:1350990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12240199 GALM galactose mutarotase gene DOID:630 genetic disease ISO RGD:1350990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240199 GALM galactose mutarotase gene DOID:9004085 Galactosemia IV ISO RGD:1350990 D RGD:7240710 20200520 OMIM 12240199 GALM galactose mutarotase gene DOID:9004085 Galactosemia IV ISO RGD:1350990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GALACTOSE MUTAROTASE DEFICIENCY | ClinVar Annotator: match by term: GALACTOSEMIA IV PMID:25741868|PMID:28492532|PMID:30451973|PMID:30910422 12240216 TMEM94 transmembrane protein 94 gene DOID:10283 prostate cancer ISO RGD:1605409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12240216 TMEM94 transmembrane protein 94 gene DOID:630 genetic disease ISO RGD:1605409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12240216 TMEM94 transmembrane protein 94 gene DOID:9001399 Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies ISO RGD:1605409 D RGD:7240710 20190417 OMIM 12240216 TMEM94 transmembrane protein 94 gene DOID:9001399 Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies ISO RGD:1605409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with cardiac defects and dysmorphic facies | ClinVar Annotator: match by term: TMEM94-related condition PMID:25741868|PMID:28097321|PMID:30526868|PMID:32825426 12240216 TMEM94 transmembrane protein 94 gene DOID:9006534 Nervous System Malformations ISO RGD:1605409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12240277 GNA15 G protein subunit alpha 15 gene DOID:630 genetic disease ISO RGD:732130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240277 GNA15 G protein subunit alpha 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12240290 P2RY2 purinergic receptor P2Y2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1352486 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12240290 P2RY2 purinergic receptor P2Y2 gene DOID:1059 intellectual disability ISO RGD:1352486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12240290 P2RY2 purinergic receptor P2Y2 gene DOID:1875 impotence ISO RGD:62088 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19303093|REF_RGD_ID:2315809 12240290 P2RY2 purinergic receptor P2Y2 gene DOID:630 genetic disease ISO RGD:1352486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240290 P2RY2 purinergic receptor P2Y2 gene DOID:9007993 Dehydration ISO RGD:62088 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:inner renal medulla PMID:15687250|REF_RGD_ID:2316687 12240313 COMMD2 COMM domain containing 2 gene DOID:0050579 glycogen storage disease XV ISO RGD:1319139 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12240313 COMMD2 COMM domain containing 2 gene DOID:630 genetic disease ISO RGD:1319139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240322 RSPO4 R-spondin 4 gene DOID:0080082 nonsyndromic congenital nail disorder 4 ISO RGD:1344766 D RGD:7240710 20190123 OMIM 12240322 RSPO4 R-spondin 4 gene DOID:0080082 nonsyndromic congenital nail disorder 4 ISO RGD:1344766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anonychia PMID:17041604|PMID:17186469|PMID:17914448|PMID:18070203|PMID:4702713 12240322 RSPO4 R-spondin 4 gene DOID:630 genetic disease ISO RGD:1344766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240329 NBL1 NBL1, DAN family BMP antagonist gene DOID:0060369 Parkinson's disease 6 ISO RGD:736912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12240329 NBL1 NBL1, DAN family BMP antagonist gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736912 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12240329 NBL1 NBL1, DAN family BMP antagonist gene DOID:0080543 hyperprolinemia type 2 ISO RGD:736912 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12240329 NBL1 NBL1, DAN family BMP antagonist gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:736912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12240329 NBL1 NBL1, DAN family BMP antagonist gene DOID:630 genetic disease ISO RGD:736912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240329 NBL1 NBL1, DAN family BMP antagonist gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:736912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12240347 UNC80 unc-80 homolog, NALCN channel complex subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1350674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12240347 UNC80 unc-80 homolog, NALCN channel complex subunit gene DOID:1059 intellectual disability ISO RGD:1350674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 12240347 UNC80 unc-80 homolog, NALCN channel complex subunit gene DOID:10907 microcephaly ISO RGD:1350674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12240347 UNC80 unc-80 homolog, NALCN channel complex subunit gene DOID:14557 primary pulmonary hypertension ISO RGD:1350674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12240347 UNC80 unc-80 homolog, NALCN channel complex subunit gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1350674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12240347 UNC80 unc-80 homolog, NALCN channel complex subunit gene DOID:630 genetic disease ISO RGD:1350674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:25741868|PMID:26545877|PMID:26708751|PMID:26708753|PMID:28191889|PMID:28492532|PMID:9536098 12240347 UNC80 unc-80 homolog, NALCN channel complex subunit gene DOID:9000999 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 ISO RGD:1350674 D RGD:7240710 20190315 OMIM 12240347 UNC80 unc-80 homolog, NALCN channel complex subunit gene DOID:9000999 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 ISO RGD:1350674 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | ClinVar Annotator: match by term: UNC80-Related Disorder PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:25741873|PMID:26545877|PMID:26708751|PMID:26708753|PMID:28492532|PMID:28708303|PMID:29430593|PMID:30167850|PMID:30771478|PMID:31130284|PMID:31607746|PMID:31839005|PMID:32712949|PMID:9536098 12240347 UNC80 unc-80 homolog, NALCN channel complex subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12240347 UNC80 unc-80 homolog, NALCN channel complex subunit gene DOID:9006603 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies ISO RGD:1350674 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies PMID:24033266|PMID:25741868|PMID:26545877|PMID:26708751|PMID:26708753|PMID:28492532 12240347 UNC80 unc-80 homolog, NALCN channel complex subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1350674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 12240347 UNC80 unc-80 homolog, NALCN channel complex subunit gene DOID:936 brain disease ISO RGD:1350674 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868|PMID:26708753 12240415 SPOCK2 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 2 gene DOID:0111330 combined saposin deficiency ISO RGD:1318416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency PMID:28492532 12240415 SPOCK2 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 2 gene DOID:630 genetic disease ISO RGD:1318416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240430 ATXN1L ataxin 1 like gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1626546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12240430 ATXN1L ataxin 1 like gene DOID:630 genetic disease ISO RGD:1626546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240430 ATXN1L ataxin 1 like gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1626546 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17322884 12240441 PAQR4 progestin and adipoQ receptor family member 4 gene DOID:0080600 COVID-19 ISO RGD:1319922 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12240441 PAQR4 progestin and adipoQ receptor family member 4 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1319922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12240441 PAQR4 progestin and adipoQ receptor family member 4 gene DOID:1826 epilepsy ISO RGD:1319922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12240441 PAQR4 progestin and adipoQ receptor family member 4 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319922 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12240441 PAQR4 progestin and adipoQ receptor family member 4 gene DOID:630 genetic disease ISO RGD:1319922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240441 PAQR4 progestin and adipoQ receptor family member 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 12240441 PAQR4 progestin and adipoQ receptor family member 4 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1319922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 12240453 KIF26B kinesin family member 26B gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1605983 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12240453 KIF26B kinesin family member 26B gene DOID:10907 microcephaly ISO RGD:1605983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 12240453 KIF26B kinesin family member 26B gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1605983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:29053796 12240453 KIF26B kinesin family member 26B gene DOID:1540 parathyroid carcinoma ISO RGD:1605983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12240453 KIF26B kinesin family member 26B gene DOID:630 genetic disease ISO RGD:1605983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240453 KIF26B kinesin family member 26B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12240453 KIF26B kinesin family member 26B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12240472 FUNDC1 FUN14 domain containing 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12240472 FUNDC1 FUN14 domain containing 1 gene DOID:0080006 bone development disease ISO RGD:1351437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 12240472 FUNDC1 FUN14 domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1351437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12240472 FUNDC1 FUN14 domain containing 1 gene DOID:630 genetic disease ISO RGD:1351437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240472 FUNDC1 FUN14 domain containing 1 gene DOID:9002669 Hypoxia ISO RGD:1557033 D RGD:9068941 20200609 RGD protein:decreased expression:brain (mouse) PMID:22267086|REF_RGD_ID:12738373 12240472 FUNDC1 FUN14 domain containing 1 gene DOID:9002669 Hypoxia severity ISO RGD:1557033 D RGD:9068941 20200609 RGD PMID:27995894|REF_RGD_ID:12738374 12240472 FUNDC1 FUN14 domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12240472 FUNDC1 FUN14 domain containing 1 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1351437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:25972376|PMID:28492532 12240481 NHSL2 NHS like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12240481 NHSL2 NHS like 2 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:1603499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked PMID:26242992 12240481 NHSL2 NHS like 2 gene DOID:12849 autistic disorder ISO RGD:1603499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12240481 NHSL2 NHS like 2 gene DOID:630 genetic disease ISO RGD:1603499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240518 LCN15 lipocalin 15 gene DOID:0050777 Joubert syndrome ISO RGD:1603824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12240518 LCN15 lipocalin 15 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1603824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12240518 LCN15 lipocalin 15 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1603824 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12240518 LCN15 lipocalin 15 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1603824 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12240518 LCN15 lipocalin 15 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1603824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12240518 LCN15 lipocalin 15 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1603824 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12240518 LCN15 lipocalin 15 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1603824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12240518 LCN15 lipocalin 15 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1603824 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12240518 LCN15 lipocalin 15 gene DOID:0081097 Rafiq syndrome ISO RGD:1603824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12240518 LCN15 lipocalin 15 gene DOID:3652 Leigh disease ISO RGD:1603824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12240518 LCN15 lipocalin 15 gene DOID:630 genetic disease ISO RGD:1603824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240518 LCN15 lipocalin 15 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1603824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12240534 IL21R interleukin 21 receptor gene DOID:0050589 inflammatory bowel disease ISO RGD:1312687 D RGD:9068941 20200609 RGD protein:increased expression:gut mucosa,leukocytes, mononuclear PMID:19322899|REF_RGD_ID:6892935 12240534 IL21R interleukin 21 receptor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1312687 D RGD:9068941 20200609 RGD diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region PMID:11821949|REF_RGD_ID:1600111 12240534 IL21R interleukin 21 receptor gene DOID:0081267 graft-versus-host disease ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:21596854|REF_RGD_ID:6892927 12240534 IL21R interleukin 21 receptor gene DOID:0111946 immunodeficiency 31C ISO RGD:1312687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31C PMID:25741868 12240534 IL21R interleukin 21 receptor gene DOID:0111982 immunodeficiency 56 ISO RGD:1312687 D RGD:7240710 20180130 OMIM 12240534 IL21R interleukin 21 receptor gene DOID:0111982 immunodeficiency 56 ISO RGD:1312687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IL21R immunodeficiency PMID:16199547|PMID:17576681|PMID:22235133|PMID:23440042|PMID:24033266|PMID:25398835|PMID:25741868|PMID:26193622|PMID:28492532|PMID:33929673|PMID:9536098 12240534 IL21R interleukin 21 receptor gene DOID:12155 lymphocytic choriomeningitis ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:19478140|REF_RGD_ID:6892934 12240534 IL21R interleukin 21 receptor gene DOID:12177 common variable immunodeficiency ISO RGD:1312687 D RGD:9068941 20200609 RGD DNA:SNPs:exons: PMID:18254984|REF_RGD_ID:6892941 12240534 IL21R interleukin 21 receptor gene DOID:13141 uveitis ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:21593413|REF_RGD_ID:6892928 12240534 IL21R interleukin 21 receptor gene DOID:13141 uveitis ISO RGD:1312688 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lymph node, spleen PMID:20057909|REF_RGD_ID:6892932 12240534 IL21R interleukin 21 receptor gene DOID:13241 Behcet's disease ISO RGD:1312687 D RGD:9068941 20200609 RGD PMID:21724243|REF_RGD_ID:6892926 12240534 IL21R interleukin 21 receptor gene DOID:13375 temporal arteritis ISO RGD:1312687 D RGD:9068941 20200609 RGD PMID:22147555|REF_RGD_ID:6892962 12240534 IL21R interleukin 21 receptor gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1312687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 12240534 IL21R interleukin 21 receptor gene DOID:2377 multiple sclerosis ISO RGD:1312687 D RGD:9068941 20200609 RGD PMID:21281812|REF_RGD_ID:6892963 12240534 IL21R interleukin 21 receptor gene DOID:2377 multiple sclerosis ISO RGD:1312687 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:20072140|REF_RGD_ID:6892695 12240534 IL21R interleukin 21 receptor gene DOID:3310 atopic dermatitis ISO RGD:1312687 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:19075398|REF_RGD_ID:6892938 12240534 IL21R interleukin 21 receptor gene DOID:3310 atopic dermatitis ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:19075398|REF_RGD_ID:6892938 12240534 IL21R interleukin 21 receptor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1312687 D RGD:9068941 20200609 RGD PMID:22530560|REF_RGD_ID:6892924 12240534 IL21R interleukin 21 receptor gene DOID:630 genetic disease ISO RGD:1312687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22235133|PMID:25741868|PMID:28492532 12240534 IL21R interleukin 21 receptor gene DOID:707 B-cell lymphoma ISO RGD:1312687 D RGD:9068941 20200609 RGD diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region PMID:11821949|REF_RGD_ID:1600111 12240534 IL21R interleukin 21 receptor gene DOID:7148 rheumatoid arthritis ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:19342640|REF_RGD_ID:6892964 12240534 IL21R interleukin 21 receptor gene DOID:820 myocarditis no_association ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:18546146|REF_RGD_ID:6892939 12240534 IL21R interleukin 21 receptor gene DOID:8778 Crohn's disease ISO RGD:1312687 D RGD:9068941 20200609 RGD DNA:altered methylation: : PMID:22021194|REF_RGD_ID:6482789 12240534 IL21R interleukin 21 receptor gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:17920666|REF_RGD_ID:6892942 12240534 IL21R interleukin 21 receptor gene DOID:9001953 Pneumovirus Infections ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:22238461|REF_RGD_ID:6892925 12240534 IL21R interleukin 21 receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:18353312|REF_RGD_ID:6892940 12240534 IL21R interleukin 21 receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis no_association ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:18546146|REF_RGD_ID:6892939 12240534 IL21R interleukin 21 receptor gene DOID:9008727 Ige Responsiveness, Atopic ISO RGD:1312687 D RGD:7240710 20180130 OMIM 12240534 IL21R interleukin 21 receptor gene DOID:9008727 Ige Responsiveness, Atopic ISO RGD:1312687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: IgE responsiveness, atopic | ClinVar Annotator: match by term: Ige, elevated level of PMID:12700598|PMID:25741868|PMID:28492532 12240534 IL21R interleukin 21 receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:1312687 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17911475 12240534 IL21R interleukin 21 receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:1312687 D RGD:9068941 20200609 RGD DNA:polymorphism: : rs3093301 (human) PMID:19644854|REF_RGD_ID:6892933 12240534 IL21R interleukin 21 receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:19164519|PMID:20424514|REF_RGD_ID:6892931|REF_RGD_ID:6892937 12240534 IL21R interleukin 21 receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:19208913|REF_RGD_ID:6892930 12240550 SNX24 sorting nexin 24 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1315725 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12240550 SNX24 sorting nexin 24 gene DOID:630 genetic disease ISO RGD:1315725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240550 SNX24 sorting nexin 24 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12240550 SNX24 sorting nexin 24 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315725 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12240550 SNX24 sorting nexin 24 gene DOID:9007386 Congenital Lower Urinary Tract Obstruction ISO RGD:1315725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital PMID:31690835 12240592 C11H9orf43 chromosome 11 C9orf43 homolog gene DOID:630 genetic disease ISO RGD:1345519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240646 CFAP276 cilia and flagella associated protein 276 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:1319313 D RGD:9068941 20220825 MouseDO 12240646 CFAP276 cilia and flagella associated protein 276 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1604538 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12240646 CFAP276 cilia and flagella associated protein 276 gene DOID:12849 autistic disorder ISO RGD:1604538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12240666 JPT2 Jupiter microtubule associated homolog 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1312960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 12240666 JPT2 Jupiter microtubule associated homolog 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12240666 JPT2 Jupiter microtubule associated homolog 2 gene DOID:1826 epilepsy ISO RGD:1312960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12240666 JPT2 Jupiter microtubule associated homolog 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12240666 JPT2 Jupiter microtubule associated homolog 2 gene DOID:630 genetic disease ISO RGD:1312960 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240675 FYTTD1 forty-two-three domain containing 1 gene DOID:630 genetic disease ISO RGD:1345293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240759 MST1R macrophage stimulating 1 receptor gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12240759 MST1R macrophage stimulating 1 receptor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12240759 MST1R macrophage stimulating 1 receptor gene DOID:3347 osteosarcoma ISO RGD:1315099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22235915 12240759 MST1R macrophage stimulating 1 receptor gene DOID:630 genetic disease ISO RGD:1315099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240759 MST1R macrophage stimulating 1 receptor gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1315099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12240759 MST1R macrophage stimulating 1 receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1315099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22575169 12240759 MST1R macrophage stimulating 1 receptor gene DOID:9261 nasopharynx carcinoma ISO RGD:1315099 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nasopharyngeal carcinoma, susceptibility to, 3 PMID:25741868|PMID:26951679|PMID:28492532 12240759 MST1R macrophage stimulating 1 receptor gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:1315099 D RGD:7240710 20201104 OMIM 12240759 MST1R macrophage stimulating 1 receptor gene DOID:9538 multiple myeloma ISO RGD:1315099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12240759 MST1R macrophage stimulating 1 receptor gene DOID:9562 primary ciliary dyskinesia ISO RGD:1315099 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12240788 RAB14 RAB14, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:737104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240799 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0050700 cardiomyopathy ISO RGD:1316107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14729820 12240799 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1316107 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:20818383|PMID:20819849|PMID:22200994|PMID:24215330|PMID:24642831|PMID:25741868|PMID:27502960|PMID:27604308|PMID:28492532 12240799 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1316107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12240799 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0112066 nuclear type mitochondrial complex I deficiency 6 ISO RGD:1316107 D RGD:7240710 20190315 OMIM 12240799 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0112066 nuclear type mitochondrial complex I deficiency 6 ISO RGD:1316107 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 PMID:11220739|PMID:22200994|PMID:25741868|PMID:28492532|PMID:31411514 12240799 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1316107 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:17576681|PMID:22200994|PMID:25741868|PMID:28492532|PMID:9536098 12240799 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:11984 hypertrophic cardiomyopathy susceptibility ISO RGD:1316107 D RGD:9068941 20200609 RGD associated with Mitochondrial Encephalomyopathies;DNA:missense mutations: :p.R228Q, p.P229Q, p.S413P (human) PMID:11220739|REF_RGD_ID:1600573 12240799 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:1540 parathyroid carcinoma ISO RGD:1316107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12240799 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:2377 multiple sclerosis ISO RGD:1316107 D RGD:9068941 20200609 RGD PMID:18682780|REF_RGD_ID:6482255 12240799 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:3652 Leigh disease ISO RGD:1316107 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.M292T (human) PMID:20819849|REF_RGD_ID:6482269 12240799 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:630 genetic disease ISO RGD:1316107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20818383|PMID:25741868|PMID:28050010|PMID:28492532 12240799 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:655 inherited metabolic disorder ISO RGD:1316107 D RGD:9068941 20200609 RGD mitochondrial complex I deficiency, OMIM:252010, DNA:point mutation:exon:R228Q PMID:11220739|REF_RGD_ID:1600573 12240799 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1316107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber optic atrophy PMID:25741868 12240799 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1316107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14729820 12240799 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307109 D RGD:9068941 20200609 RGD protein:decreased expression:dorsal root ganglia (rat) PMID:20876714|REF_RGD_ID:6484699 12240799 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12240817 PRDM16 PR/SET domain 16 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1353101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12240817 PRDM16 PR/SET domain 16 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1353101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12240817 PRDM16 PR/SET domain 16 gene DOID:0060480 left ventricular noncompaction ISO RGD:1620785 D RGD:9068941 20220825 MouseDO OMIM:604169 12240817 PRDM16 PR/SET domain 16 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1353101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 12240817 PRDM16 PR/SET domain 16 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1353101 D RGD:7240710 20180130 OMIM 12240817 PRDM16 PR/SET domain 16 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1353101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1LL | ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:16199547|PMID:17576681|PMID:23768516|PMID:24033266|PMID:24140581|PMID:25640679|PMID:25741868|PMID:26350513|PMID:27535533|PMID:28492532|PMID:28798025|PMID:29367541|PMID:30847666|PMID:31333075|PMID:31568572|PMID:31648988|PMID:31983221|PMID:32041989|PMID:32233023|PMID:32746448|PMID:32880476|PMID:33500567|PMID:34540771|PMID:9536098 12240817 PRDM16 PR/SET domain 16 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1353101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12240817 PRDM16 PR/SET domain 16 gene DOID:0111934 immunodeficiency 38 ISO RGD:1353101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12240817 PRDM16 PR/SET domain 16 gene DOID:0111935 immunodeficiency 16 ISO RGD:1353101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12240817 PRDM16 PR/SET domain 16 gene DOID:10907 microcephaly ISO RGD:1353101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12240817 PRDM16 PR/SET domain 16 gene DOID:12930 dilated cardiomyopathy ISO RGD:1353101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23768516|PMID:25741868|PMID:28492532 12240817 PRDM16 PR/SET domain 16 gene DOID:3393 coronary artery disease ISO RGD:1353101 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35590109 12240817 PRDM16 PR/SET domain 16 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1353101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532|PMID:32233023 12240817 PRDM16 PR/SET domain 16 gene DOID:397 restrictive cardiomyopathy ISO RGD:1353101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy PMID:23768516|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 12240817 PRDM16 PR/SET domain 16 gene DOID:630 genetic disease ISO RGD:1353101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:32746448 12240817 PRDM16 PR/SET domain 16 gene DOID:6364 migraine ISO RGD:1353101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21666692 12240817 PRDM16 PR/SET domain 16 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1353101 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:23768516|PMID:25741868|PMID:31333075|PMID:31568572|PMID:34540771 12240817 PRDM16 PR/SET domain 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12240817 PRDM16 PR/SET domain 16 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1353101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12240844 NVL nuclear VCP like gene DOID:1540 parathyroid carcinoma ISO RGD:1322636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12240844 NVL nuclear VCP like gene DOID:630 genetic disease ISO RGD:1322636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240844 NVL nuclear VCP like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12240895 SUGCT succinyl-CoA:glutarate-CoA transferase gene DOID:0112246 glutaric acidemia type 3 ISO RGD:1317700 D RGD:7240710 20190315 OMIM 12240895 SUGCT succinyl-CoA:glutarate-CoA transferase gene DOID:0112246 glutaric acidemia type 3 ISO RGD:1317700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaryl-CoA oxidase deficiency PMID:12555941|PMID:18926513|PMID:1909402|PMID:25741868|PMID:28492532 12240895 SUGCT succinyl-CoA:glutarate-CoA transferase gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1317700 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:10441570|PMID:15739154|PMID:18000979|PMID:20672375|PMID:24736735|PMID:28492532|PMID:29236091 12240895 SUGCT succinyl-CoA:glutarate-CoA transferase gene DOID:1793 pancreatic cancer ISO RGD:1317700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098869 12240895 SUGCT succinyl-CoA:glutarate-CoA transferase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12240895 SUGCT succinyl-CoA:glutarate-CoA transferase gene DOID:630 genetic disease ISO RGD:1317700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12240895 SUGCT succinyl-CoA:glutarate-CoA transferase gene DOID:6364 migraine ISO RGD:1317700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23793025 12240895 SUGCT succinyl-CoA:glutarate-CoA transferase gene DOID:9005539 Familial Prostate Cancer ISO RGD:1317700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12240917 LRRC3B leucine rich repeat containing 3B gene DOID:630 genetic disease ISO RGD:1345434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240917 LRRC3B leucine rich repeat containing 3B gene DOID:9000217 Stomach Neoplasms ISO RGD:1345434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18757430 12240917 LRRC3B leucine rich repeat containing 3B gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18815942 12240917 LRRC3B leucine rich repeat containing 3B gene DOID:9008939 Breast Neoplasms ISO RGD:1345434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12240941 TUBAL3 tubulin alpha like 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1313230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12240941 TUBAL3 tubulin alpha like 3 gene DOID:5419 schizophrenia ISO RGD:1313230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12240941 TUBAL3 tubulin alpha like 3 gene DOID:630 genetic disease ISO RGD:1313230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240949 GLIS1 GLIS family zinc finger 1 gene DOID:630 genetic disease ISO RGD:1343612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240968 KIF4A kinesin family member 4A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12240968 KIF4A kinesin family member 4A gene DOID:0070338 cerebellar hypoplasia ISO RGD:1342700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 12240968 KIF4A kinesin family member 4A gene DOID:0080600 COVID-19 ISO RGD:1342700 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12240968 KIF4A kinesin family member 4A gene DOID:0112040 non-syndromic X-linked intellectual disability 100 ISO RGD:1342700 D RGD:7240710 20180130 OMIM 12240968 KIF4A kinesin family member 4A gene DOID:0112040 non-syndromic X-linked intellectual disability 100 ISO RGD:1342700 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked 100 PMID:25741868|PMID:28492532 12240968 KIF4A kinesin family member 4A gene DOID:1059 intellectual disability ISO RGD:1342700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31690835 12240968 KIF4A kinesin family member 4A gene DOID:12849 autistic disorder ISO RGD:1342700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12240968 KIF4A kinesin family member 4A gene DOID:1826 epilepsy ISO RGD:1342700 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12240968 KIF4A kinesin family member 4A gene DOID:630 genetic disease ISO RGD:1342700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12240968 KIF4A kinesin family member 4A gene DOID:684 hepatocellular carcinoma ISO RGD:1342700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12240968 KIF4A kinesin family member 4A gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1342700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:31474318 12240968 KIF4A kinesin family member 4A gene DOID:9970 obesity ISO RGD:1342700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 12241008 SLC35B3 solute carrier family 35 member B3 gene DOID:630 genetic disease ISO RGD:1316221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12241034 CNPY3 canopy FGF signaling regulator 3 gene DOID:0050444 infantile Refsum disease ISO RGD:1319430 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12241034 CNPY3 canopy FGF signaling regulator 3 gene DOID:0080432 developmental and epileptic encephalopathy 60 ISO RGD:1319430 D RGD:7240710 20190315 OMIM 12241034 CNPY3 canopy FGF signaling regulator 3 gene DOID:0080432 developmental and epileptic encephalopathy 60 ISO RGD:1319430 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 60 PMID:25741868|PMID:29394991 12241034 CNPY3 canopy FGF signaling regulator 3 gene DOID:630 genetic disease ISO RGD:1319430 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12241034 CNPY3 canopy FGF signaling regulator 3 gene DOID:905 Zellweger syndrome ISO RGD:1319430 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12241044 WFDC5 WAP four-disulfide core domain 5 gene DOID:2234 focal epilepsy ISO RGD:1312741 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12241044 WFDC5 WAP four-disulfide core domain 5 gene DOID:630 genetic disease ISO RGD:1312741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12241044 WFDC5 WAP four-disulfide core domain 5 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1312741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12241052 FCRL5 Fc receptor like 5 gene DOID:0080600 COVID-19 ISO RGD:1606497 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12241052 FCRL5 Fc receptor like 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1606497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12241052 FCRL5 Fc receptor like 5 gene DOID:630 genetic disease ISO RGD:1606497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12241052 FCRL5 Fc receptor like 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12241079 SLC25A10 solute carrier family 25 member 10 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1350550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868|PMID:29211846 12241079 SLC25A10 solute carrier family 25 member 10 gene DOID:305 carcinoma ISO RGD:1350550 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12241079 SLC25A10 solute carrier family 25 member 10 gene DOID:630 genetic disease ISO RGD:1350550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12241079 SLC25A10 solute carrier family 25 member 10 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1350550 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12241079 SLC25A10 solute carrier family 25 member 10 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1350550 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12241079 SLC25A10 solute carrier family 25 member 10 gene DOID:9006004 Mitochondrial DNA Depletion Syndrome 19 ISO RGD:1350550 D RGD:7240710 20200812 OMIM 12241079 SLC25A10 solute carrier family 25 member 10 gene DOID:9006004 Mitochondrial DNA Depletion Syndrome 19 ISO RGD:1350550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 19 PMID:25741868|PMID:29211846 12241116 CCL19 C-C motif chemokine ligand 19 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1321181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12241116 CCL19 C-C motif chemokine ligand 19 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1321181 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12241116 CCL19 C-C motif chemokine ligand 19 gene DOID:0080942 anauxetic dysplasia ISO RGD:1321181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12241116 CCL19 C-C motif chemokine ligand 19 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1321181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12241116 CCL19 C-C motif chemokine ligand 19 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1321181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12241116 CCL19 C-C motif chemokine ligand 19 gene DOID:1205 allergic disease ISO RGD:1321181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12241116 CCL19 C-C motif chemokine ligand 19 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1321181 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:12626344|REF_RGD_ID:5130912 12241116 CCL19 C-C motif chemokine ligand 19 gene DOID:13564 aspergillosis ISO RGD:1321182 D RGD:9068941 20200609 RGD associated with Neutropenia;mRNA:increased expression:lung PMID:19783686|REF_RGD_ID:5130908 12241116 CCL19 C-C motif chemokine ligand 19 gene DOID:2841 asthma ISO RGD:1321181 D RGD:9068941 20200609 RGD protein:increased expression:bronchus submucosa, mast cell PMID:16959919|REF_RGD_ID:5130911 12241116 CCL19 C-C motif chemokine ligand 19 gene DOID:2957 pulmonary tuberculosis ISO RGD:1321182 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19933855|REF_RGD_ID:5130906 12241116 CCL19 C-C motif chemokine ligand 19 gene DOID:3042 allergic contact dermatitis ISO RGD:1321181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17597826 12241116 CCL19 C-C motif chemokine ligand 19 gene DOID:3770 pulmonary fibrosis ISO RGD:1321181 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17717200|REF_RGD_ID:5130910 12241116 CCL19 C-C motif chemokine ligand 19 gene DOID:4483 rhinitis ISO RGD:1321182 D RGD:9068941 20200609 RGD PMID:17947663|REF_RGD_ID:5130909 12241116 CCL19 C-C motif chemokine ligand 19 gene DOID:552 pneumonia ISO RGD:1321181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12241116 CCL19 C-C motif chemokine ligand 19 gene DOID:630 genetic disease ISO RGD:1321181 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12241116 CCL19 C-C motif chemokine ligand 19 gene DOID:874 bacterial pneumonia ISO RGD:1321182 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:20176793|REF_RGD_ID:5130918 12241116 CCL19 C-C motif chemokine ligand 19 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1321181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12241116 CCL19 C-C motif chemokine ligand 19 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12241116 CCL19 C-C motif chemokine ligand 19 gene DOID:9870 galactosemia ISO RGD:1321181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12241122 RNF20 ring finger protein 20 gene DOID:1059 intellectual disability ISO RGD:1323649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities 12241122 RNF20 ring finger protein 20 gene DOID:1612 breast cancer ISO RGD:1323649 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:18832071|REF_RGD_ID:9831404 12241122 RNF20 ring finger protein 20 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:1323649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 12241122 RNF20 ring finger protein 20 gene DOID:630 genetic disease ISO RGD:1323649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12241122 RNF20 ring finger protein 20 gene DOID:9007964 Arsenic Poisoning ISO RGD:1323649 D RGD:9068941 20200609 RGD protein:increased expression:urine (human) PMID:21136906|REF_RGD_ID:9831407 12241122 RNF20 ring finger protein 20 gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:1323649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532 12241122 RNF20 ring finger protein 20 gene DOID:9953 acute biphenotypic leukemia disease_progression ISO RGD:1323650 D RGD:9068941 20200609 RGD PMID:23412334|REF_RGD_ID:9831405 12241149 RYK receptor like tyrosine kinase gene DOID:630 genetic disease ISO RGD:1346179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12241149 RYK receptor like tyrosine kinase gene DOID:674 cleft palate ISO RGD:1346179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10932185 12241149 RYK receptor like tyrosine kinase gene DOID:9004657 Weight Gain ISO RGD:1346179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12241149 RYK receptor like tyrosine kinase gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1346179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10932185 12241149 RYK receptor like tyrosine kinase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1346179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12241175 COX15 cytochrome c oxidase assembly homolog COX15 gene DOID:0050700 cardiomyopathy ISO RGD:1323821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 12241175 COX15 cytochrome c oxidase assembly homolog COX15 gene DOID:0080357 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 ISO RGD:1323821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12241175 COX15 cytochrome c oxidase assembly homolog COX15 gene DOID:0080358 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 ISO RGD:1323821 D RGD:7240710 20180130 OMIM 12241175 COX15 cytochrome c oxidase assembly homolog COX15 gene DOID:0080358 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 ISO RGD:1323821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 PMID:12474143|PMID:15235026|PMID:15863660|PMID:17576681|PMID:21412973|PMID:2175025|PMID:22310368|PMID:25741868|PMID:26940873|PMID:26959537|PMID:28492532|PMID:31967322|PMID:32232962|PMID:33746038|PMID:9536098 12241175 COX15 cytochrome c oxidase assembly homolog COX15 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1323821 D RGD:9068941 20200609 RGD PMID:12474143|REF_RGD_ID:1598468 12241175 COX15 cytochrome c oxidase assembly homolog COX15 gene DOID:3652 Leigh disease ISO RGD:1323821 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:12474143|PMID:15863660|PMID:17576681|PMID:21412973|PMID:22310368|PMID:25741868|PMID:26959537|PMID:28492532|PMID:32232962|PMID:33746038|PMID:9536098 12241175 COX15 cytochrome c oxidase assembly homolog COX15 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1323821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:28492532 12241175 COX15 cytochrome c oxidase assembly homolog COX15 gene DOID:630 genetic disease ISO RGD:1323821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12474143|PMID:15235026|PMID:21412973|PMID:2175025|PMID:25741868|PMID:26940873|PMID:28492532|PMID:31967322|PMID:32232962 12241188 RNF19B ring finger protein 19B gene DOID:0080600 COVID-19 ISO RGD:1313515 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12241188 RNF19B ring finger protein 19B gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12241188 RNF19B ring finger protein 19B gene DOID:630 genetic disease ISO RGD:1313515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12241201 UBL7 ubiquitin like 7 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12241201 UBL7 ubiquitin like 7 gene DOID:2717 Bloom syndrome ISO RGD:1602843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12241201 UBL7 ubiquitin like 7 gene DOID:5419 schizophrenia ISO RGD:1602843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12241201 UBL7 ubiquitin like 7 gene DOID:630 genetic disease ISO RGD:1602843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12241201 UBL7 ubiquitin like 7 gene DOID:9256 colorectal cancer ISO RGD:1602843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12241229 WDR12 WD repeat domain 12 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1353160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12241229 WDR12 WD repeat domain 12 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1353160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12241229 WDR12 WD repeat domain 12 gene DOID:12930 dilated cardiomyopathy ISO RGD:1353160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25915632 12241229 WDR12 WD repeat domain 12 gene DOID:14557 primary pulmonary hypertension ISO RGD:1353160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12241229 WDR12 WD repeat domain 12 gene DOID:3393 coronary artery disease ISO RGD:1353160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 12241229 WDR12 WD repeat domain 12 gene DOID:5844 myocardial infarction ISO RGD:1353160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198609|PMID:25915632 12241229 WDR12 WD repeat domain 12 gene DOID:630 genetic disease ISO RGD:1353160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12241229 WDR12 WD repeat domain 12 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1353160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12241229 WDR12 WD repeat domain 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12241229 WDR12 WD repeat domain 12 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1353160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12241250 NSL1 NSL1 component of MIS12 kinetochore complex gene DOID:1540 parathyroid carcinoma ISO RGD:1345295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12241250 NSL1 NSL1 component of MIS12 kinetochore complex gene DOID:630 genetic disease ISO RGD:1345295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12241250 NSL1 NSL1 component of MIS12 kinetochore complex gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12241278 DGKB diacylglycerol kinase beta gene DOID:0060224 atrial fibrillation ISO RGD:731815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12241278 DGKB diacylglycerol kinase beta gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12241278 DGKB diacylglycerol kinase beta gene DOID:630 genetic disease ISO RGD:731815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12241315 TRIML2 tripartite motif family like 2 gene DOID:12849 autistic disorder ISO RGD:1602827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12241315 TRIML2 tripartite motif family like 2 gene DOID:2229 factor XI deficiency ISO RGD:1602827 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:34355501 12241315 TRIML2 tripartite motif family like 2 gene DOID:630 genetic disease ISO RGD:1602827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12241315 TRIML2 tripartite motif family like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:732660 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:29940770|REF_RGD_ID:14985218 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:732660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:10283 prostate cancer ISO RGD:732660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:10652 Alzheimer's disease ISO RGD:732660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15750215 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:12217 Lewy body dementia ISO RGD:732660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:12932 endomyocardial fibrosis ISO RGD:732660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30450786 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:14330 Parkinson's disease ISO RGD:732660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:1520 colon carcinoma ISO RGD:732660 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:29940770|REF_RGD_ID:14985218 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:2154 nephroblastoma ISO RGD:732660 D RGD:9068941 20200609 RGD PMID:9070652|REF_RGD_ID:7242956 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:2661 myoepithelioma ISO RGD:732660 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:332 amyotrophic lateral sclerosis ISO RGD:2871 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, astrocyte PMID:18441505|REF_RGD_ID:2311519 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:3459 breast carcinoma ISO RGD:732660 D RGD:9068941 20200609 RGD protein:increased expression:serum,urine: PMID:29940770|REF_RGD_ID:14985218 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:3827 congenital diaphragmatic hernia ISO RGD:732660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20620343|PMID:21433279 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:3910 lung adenocarcinoma ISO RGD:2871 D RGD:9068941 20200609 RGD mRNA:deletions: :c.3698_4902del, c.3366_4902del, c.3817_4697del (rat) PMID:12503077|REF_RGD_ID:1298968 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:5426 primary ovarian insufficiency ISO RGD:732660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:630 genetic disease ISO RGD:732660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:732660 D RGD:7240710 20180130 OMIM 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:732660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:25741868|PMID:9722161 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:732660 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:liver PMID:18322954|REF_RGD_ID:14985219 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:684 hepatocellular carcinoma no_association ISO RGD:732660 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity,mutations:liver: PMID:10347113|REF_RGD_ID:14985220 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:732660 D RGD:9068941 20200609 RGD PMID:30720132|REF_RGD_ID:14985221 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:850 lung disease ISO RGD:732660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20620343|PMID:21433279 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:8719 in situ carcinoma ISO RGD:732660 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA:loss of heterozygosity, missense mutations (human) PMID:8649861|REF_RGD_ID:2311631 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:8791 breast carcinoma in situ ISO RGD:732660 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity PMID:8649861|REF_RGD_ID:2311631 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2871 D RGD:9068941 20200609 RGD PMID:15057872|PMID:9652747|REF_RGD_ID:2311623|REF_RGD_ID:2311630 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:9002231 Fetal Growth Retardation ISO RGD:2871 D RGD:9068941 20200609 RGD mRNA:increased expresssion:fetus: PMID:1408464|REF_RGD_ID:14985247 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:732660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732661 D RGD:9068941 20200609 RGD protein:increased expression:oviduct PMID:18676006|REF_RGD_ID:2311502 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:9006487 Reoviridae Infections resistance ISO RGD:2871 D RGD:9068941 20200609 RGD PMID:15333144|REF_RGD_ID:2311622 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:9007039 Ventricular Dysfunction ISO RGD:732660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30450786 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:732660 D RGD:9068941 20200609 RGD DNA:insertion, deletion:3' utr (human) PMID:16868148|REF_RGD_ID:2311514 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:9538 multiple myeloma ISO RGD:732660 D RGD:9068941 20200609 RGD protein:increased expression:serum,urine: PMID:29940770|REF_RGD_ID:14985218 12241341 IGF2R insulin like growth factor 2 receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:732660 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:15531531|REF_RGD_ID:2311611 12241410 GDAP1L1 ganglioside induced differentiation associated protein 1 like 1 gene DOID:2234 focal epilepsy ISO RGD:1312703 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12241410 GDAP1L1 ganglioside induced differentiation associated protein 1 like 1 gene DOID:630 genetic disease ISO RGD:1312703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12241410 GDAP1L1 ganglioside induced differentiation associated protein 1 like 1 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1312703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12241420 KRT83 keratin 83 gene DOID:0050472 monilethrix ISO RGD:1352979 D RGD:7240710 20180130 OMIM 12241420 KRT83 keratin 83 gene DOID:0050472 monilethrix ISO RGD:1352979 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nodose hair PMID:10469314|PMID:10594761|PMID:10878478|PMID:15050877|PMID:15744029|PMID:19400537|PMID:25326635|PMID:25741868|PMID:28492532|PMID:7556444|PMID:9241275|PMID:9402962|PMID:9457912|PMID:9665406|PMID:9804356 12241420 KRT83 keratin 83 gene DOID:1612 breast cancer susceptibility ISO RGD:1352979 D RGD:9068941 20230128 RGD DNA:SNP:3'UTR:rs3660(human) PMID:32678982|REF_RGD_ID:155882455 12241420 KRT83 keratin 83 gene DOID:421 hair disease susceptibility ISO RGD:1352979 D RGD:9068941 20200609 RGD protein:mutation: ; E403K; monilethrix, OMIM:158000 PMID:9402962|REF_RGD_ID:1600197 12241420 KRT83 keratin 83 gene DOID:630 genetic disease ISO RGD:1352979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12241433 PHC3 polyhomeotic homolog 3 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1317513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 12241433 PHC3 polyhomeotic homolog 3 gene DOID:1062 Fanconi syndrome ISO RGD:1317513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 12241433 PHC3 polyhomeotic homolog 3 gene DOID:630 genetic disease ISO RGD:1317513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12241464 LPAR3 lysophosphatidic acid receptor 3 gene DOID:630 genetic disease ISO RGD:1323219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12241474 ZIC3 Zic family member 3 gene DOID:0050545 visceral heterotaxy ISO RGD:1557273 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 12241474 ZIC3 Zic family member 3 gene DOID:0060022 CD40 ligand deficiency ISO RGD:1347201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12241474 ZIC3 Zic family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12241474 ZIC3 Zic family member 3 gene DOID:0060825 Christianson syndrome ISO RGD:1347201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12241474 ZIC3 Zic family member 3 gene DOID:0080006 bone development disease ISO RGD:1347201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17127413 12241474 ZIC3 Zic family member 3 gene DOID:0111766 X-linked VACTERL association ISO RGD:1347201 D RGD:7240710 20180130 OMIM 12241474 ZIC3 Zic family member 3 gene DOID:0111766 X-linked VACTERL association ISO RGD:1347201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus PMID:10980576|PMID:14681828|PMID:17764085|PMID:23427188|PMID:24033266|PMID:24123890|PMID:25741868|PMID:2629409|PMID:26294094|PMID:28492532|PMID:32753700 12241474 ZIC3 Zic family member 3 gene DOID:12849 autistic disorder ISO RGD:1347201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12241474 ZIC3 Zic family member 3 gene DOID:2907 Goldenhar syndrome ISO RGD:1557273 D RGD:9068941 20220825 MouseDO OMIM:164210 12241474 ZIC3 Zic family member 3 gene DOID:630 genetic disease ISO RGD:1347201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12241474 ZIC3 Zic family member 3 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1347201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12241474 ZIC3 Zic family member 3 gene DOID:758 situs inversus ISO RGD:1347201 D RGD:9068941 20200609 RGD X-linked visceral heterotaxy, OMIM:306955 PMID:9354794|REF_RGD_ID:1599909 12241474 ZIC3 Zic family member 3 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1347201 D RGD:9068941 20200609 RGD X-linked visceral heterotaxy, OMIM:306955 PMID:9354794|REF_RGD_ID:1599909 12241474 ZIC3 Zic family member 3 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1347201 D RGD:7240710 20180130 OMIM 12241474 ZIC3 Zic family member 3 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1347201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 1, X-linked | ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked | ClinVar Annotator: match by term: Visceral heterotaxia PMID:10980576|PMID:14681828|PMID:15319456|PMID:15358621|PMID:16019685|PMID:17295247|PMID:17764085|PMID:18342287|PMID:18716025|PMID:21465648|PMID:23427188|PMID:23872418|PMID:24033266|PMID:24123890|PMID:25741868|PMID:26014430|PMID:2629409|PMID:26294094|PMID:27406248|PMID:28492532|PMID:30622330|PMID:32753700|PMID:3674105|PMID:9354794 12241474 ZIC3 Zic family member 3 gene DOID:9008310 Preaxial Polydactyly IV ISO RGD:1314554 D RGD:9068941 20200609 RGD PMID:22234993|REF_RGD_ID:12738220 12241474 ZIC3 Zic family member 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1347201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17127413 12241474 ZIC3 Zic family member 3 gene DOID:9008797 Facial Asymmetry ISO RGD:1347201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17127413 12241474 ZIC3 Zic family member 3 gene DOID:9565 dextrocardia ISO RGD:1347201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17127413 12241487 GPR37L1 G protein-coupled receptor 37 like 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12241487 GPR37L1 G protein-coupled receptor 37 like 1 gene DOID:13938 amenorrhea ISO RGD:1606828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12241487 GPR37L1 G protein-coupled receptor 37 like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12241487 GPR37L1 G protein-coupled receptor 37 like 1 gene DOID:630 genetic disease ISO RGD:1606828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12241487 GPR37L1 G protein-coupled receptor 37 like 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606828 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12241487 GPR37L1 G protein-coupled receptor 37 like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12241493 HNRNPA3 heterogeneous nuclear ribonucleoprotein A3 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1343696 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12241493 HNRNPA3 heterogeneous nuclear ribonucleoprotein A3 gene DOID:10325 silicosis ISO RGD:727807 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19534998|REF_RGD_ID:10059658 12241493 HNRNPA3 heterogeneous nuclear ribonucleoprotein A3 gene DOID:5419 schizophrenia ISO RGD:1343696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16223876 12241528 STXBP1 syntaxin binding protein 1 gene DOID:0050562 West syndrome ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant | ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: West syndrome PMID:20887364|PMID:21193638|PMID:22612257|PMID:23934111|PMID:25326390|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:29186148|PMID:30174244|PMID:30185235|PMID:30266908|PMID:30540253|PMID:30842647|PMID:31221716|PMID:31474318|PMID:32112430 12241528 STXBP1 syntaxin binding protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20876469|PMID:20887364|PMID:21762454|PMID:21770924|PMID:22211739|PMID:22368301|PMID:22495311|PMID:22612257|PMID:22722545|PMID:23409955|PMID:23662938|PMID:23708187|PMID:23757202|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:24623842|PMID:24781210|PMID:25008876|PMID:25131622|PMID:25356970|PMID:25418441|PMID:25497044|PMID:25533962|PMID:25556537|PMID:25658047|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27184330|PMID:27779742|PMID:28133863|PMID:28135719|PMID:28387360|PMID:28387369|PMID:28492532|PMID:28628100|PMID:28947817|PMID:29056246|PMID:29186148|PMID:29264391|PMID:29314583|PMID:29655203|PMID:29896790|PMID:30109124|PMID:30397338|PMID:30504930|PMID:30842647|PMID:31255830|PMID:31474318|PMID:32238909|PMID:32581362|PMID:9536098 12241528 STXBP1 syntaxin binding protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737322 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20887364|PMID:21762454|PMID:21770924|PMID:22495311|PMID:22612257|PMID:22722545|PMID:23409955|PMID:23757202|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:24623842|PMID:24781210|PMID:25131622|PMID:25356970|PMID:25418441|PMID:25497044|PMID:25533962|PMID:25556537|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27779742|PMID:28133863|PMID:28135719|PMID:28492532|PMID:29186148|PMID:29264391|PMID:29655203|PMID:29761117|PMID:30397338|PMID:30504930|PMID:30842647|PMID:31255830|PMID:31474318|PMID:32238909|PMID:32581362|PMID:9536098 12241528 STXBP1 syntaxin binding protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737322 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20603329|PMID:20876469|PMID:20887364|PMID:21062273|PMID:21193638|PMID:21364700|PMID:21762454|PMID:21770924|PMID:21900502|PMID:22211739|PMID:22368301|PMID:22495311|PMID:22612257|PMID:22722545|PMID:23020937|PMID:23409955|PMID:23662938|PMID:23708187|PMID:23757202|PMID:23858467|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:24623842|PMID:24781210|PMID:25008876|PMID:25131622|PMID:25326390|PMID:25356970|PMID:25418441|PMID:25497044|PMID:25533962|PMID:25556537|PMID:25640679|PMID:25658047|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27184330|PMID:27652284|PMID:27779742|PMID:27798625|PMID:28133863|PMID:28135719|PMID:28387360|PMID:28387369|PMID:28492532|PMID:28628100|PMID:28947817|PMID:29056246|PMID:29067685|PMID:29186148|PMID:29264391|PMID:29314583|PMID:29538625|PMID:29655203|PMID:29761117|PMID:29896790|PMID:30174244|PMID:30185235|PMID:30266908|PMID:30397338|PMID:30488659|PMID:30504930|PMID:30540253|PMID:30842647|PMID:31175295|PMID:31221716|PMID:31255830|PMID:31332438|PMID:31474318|PMID:31780880|PMID:32112430|PMID:32238909|PMID:32521962|PMID:32581362|PMID:32643187|PMID:32960281|PMID:33004838|PMID:33196034|PMID:33206935|PMID:33272087|PMID:34489640|PMID:35007884|PMID:35655584|PMID:9536098 12241528 STXBP1 syntaxin binding protein 1 gene DOID:0050753 cerebellar ataxia ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:20887364|PMID:24033266|PMID:25533962|PMID:25741868|PMID:26384463|PMID:26865513|PMID:26918652|PMID:27159321|PMID:28135719|PMID:28492532 12241528 STXBP1 syntaxin binding protein 1 gene DOID:0050889 non-syndromic intellectual disability ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic intellectual disability PMID:25741868|PMID:28708303 12241528 STXBP1 syntaxin binding protein 1 gene DOID:0050952 spastic ataxia ISO RGD:737322 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:18414213|PMID:24781210|PMID:25356970|PMID:25741868|PMID:26795593|PMID:26865513|PMID:26993267|PMID:28492532|PMID:29264391|PMID:32643187 12241528 STXBP1 syntaxin binding protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737322 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:23858467|PMID:25741868|PMID:28492532|PMID:30504930|PMID:31175295|PMID:33272087 12241528 STXBP1 syntaxin binding protein 1 gene DOID:0060470 salt and pepper syndrome ISO RGD:737322 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: GM3 synthase deficiency | ClinVar Annotator: match by term: Infantile epilepsy syndrome PMID:18414213|PMID:19557857|PMID:20887364|PMID:21762454|PMID:22495311|PMID:22612257|PMID:23409955|PMID:23934111|PMID:24033266|PMID:24781210|PMID:25326635|PMID:25356970|PMID:25497044|PMID:25533962|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27779742|PMID:28135719|PMID:28492532|PMID:29186148|PMID:29264391|PMID:29761117|PMID:30842647|PMID:31474318|PMID:32238909 12241528 STXBP1 syntaxin binding protein 1 gene DOID:0060470 salt and pepper syndrome ISO RGD:737322 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Infantile epilepsy syndrome PMID:18414213|PMID:19557857|PMID:20887364|PMID:21762454|PMID:22495311|PMID:22612257|PMID:23409955|PMID:23934111|PMID:24033266|PMID:24781210|PMID:25326635|PMID:25356970|PMID:25497044|PMID:25533962|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27779742|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28947817|PMID:29186148|PMID:29264391|PMID:29761117|PMID:30185235|PMID:30842647|PMID:31474318|PMID:32238909|PMID:32643187 12241528 STXBP1 syntaxin binding protein 1 gene DOID:0060470 salt and pepper syndrome ISO RGD:737322 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Infantile epilepsy syndrome PMID:18414213|PMID:19557857|PMID:20887364|PMID:21762454|PMID:22495311|PMID:22612257|PMID:23409955|PMID:23934111|PMID:24033266|PMID:24781210|PMID:25326635|PMID:25356970|PMID:25473036|PMID:25497044|PMID:25533962|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27779742|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28947817|PMID:29186148|PMID:29264391|PMID:29761117|PMID:30185235|PMID:30842647|PMID:31474318|PMID:32238909|PMID:32643187 12241528 STXBP1 syntaxin binding protein 1 gene DOID:0060470 salt and pepper syndrome ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile epilepsy syndrome PMID:17576681|PMID:18414213|PMID:19557857|PMID:20887364|PMID:21762454|PMID:21770924|PMID:22495311|PMID:22612257|PMID:23409955|PMID:23708187|PMID:23934111|PMID:24033266|PMID:24315539|PMID:24781210|PMID:25008876|PMID:25326635|PMID:25356970|PMID:25473036|PMID:25497044|PMID:25533962|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26544041|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27184330|PMID:27779742|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28947817|PMID:29186148|PMID:29264391|PMID:29761117|PMID:30185235|PMID:30842647|PMID:31474318|PMID:32238909|PMID:32643187|PMID:9536098 12241528 STXBP1 syntaxin binding protein 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:737322 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm PMID:18414213|PMID:20887364|PMID:22612257|PMID:24781210|PMID:25356970|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26795593|PMID:26865513|PMID:26993267|PMID:27779742|PMID:28492532|PMID:29264391|PMID:30185235|PMID:30842647|PMID:32643187 12241528 STXBP1 syntaxin binding protein 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:737322 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12241528 STXBP1 syntaxin binding protein 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:21193638|PMID:23934111|PMID:25326390|PMID:25533962|PMID:25741868|PMID:26865513|PMID:28492532|PMID:29186148|PMID:29761117|PMID:30174244|PMID:30266908|PMID:30540253|PMID:31221716|PMID:31474318|PMID:32112430 12241528 STXBP1 syntaxin binding protein 1 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:737322 D RGD:7240710 20180130 OMIM 12241528 STXBP1 syntaxin binding protein 1 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:737322 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 | ClinVar Annotator: match by term: STXBP1-associated neurodevelopmental disorder PMID:16199547|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20876469|PMID:20887364|PMID:21062273|PMID:21193638|PMID:21204804|PMID:21364700|PMID:21762454|PMID:21770924|PMID:22495311|PMID:22612257|PMID:23409955|PMID:23533165|PMID:23662938|PMID:23708187|PMID:23757202|PMID:23858467|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:24623842|PMID:24781210|PMID:25008876|PMID:25131622|PMID:25284778|PMID:25326390|PMID:25326635|PMID:25356970|PMID:25418441|PMID:25473036|PMID:25497044|PMID:25533962|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:25951140|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26648591|PMID:26740508|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27184330|PMID:27652284|PMID:27779742|PMID:28133863|PMID:28135719|PMID:28191889|PMID:28387369|PMID:28492532|PMID:28628100|PMID:28947817|PMID:29067685|PMID:29186148|PMID:29264391|PMID:29314583|PMID:29389947|PMID:29655203|PMID:29758562|PMID:29761117|PMID:29896790|PMID:30174244|PMID:30185235|PMID:30266908|PMID:30488659|PMID:30504930|PMID:30540253|PMID:30842647|PMID:31175295|PMID:31221716|PMID:31255830|PMID:31474318|PMID:31780880|PMID:31855252|PMID:32112430|PMID:32238909|PMID:32581362|PMID:32643187|PMID:33004838|PMID:33196034|PMID:33272087|PMID:34008892|PMID:34906502|PMID:35002760|PMID:35007884|PMID:35655584|PMID:9536098 12241528 STXBP1 syntaxin binding protein 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12241528 STXBP1 syntaxin binding protein 1 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 12241528 STXBP1 syntaxin binding protein 1 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:11361 D RGD:9068941 20200609 RGD PMID:26216965|REF_RGD_ID:11532386 12241528 STXBP1 syntaxin binding protein 1 gene DOID:0110139 Bardet-Biedl syndrome 17 ISO RGD:11361 D RGD:9068941 20200609 RGD protein:increased expression:photoreceptor outer segment layer PMID:26216965|REF_RGD_ID:11532386 12241528 STXBP1 syntaxin binding protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737322 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20603329|PMID:20876469|PMID:20887364|PMID:21062273|PMID:21193638|PMID:21364700|PMID:21762454|PMID:21770924|PMID:21900502|PMID:22211739|PMID:22368301|PMID:22495311|PMID:22612257|PMID:22722545|PMID:23020937|PMID:23409955|PMID:23662938|PMID:23708187|PMID:23757202|PMID:23858467|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:24623842|PMID:24781210|PMID:25008876|PMID:25131622|PMID:25326390|PMID:25356970|PMID:25418441|PMID:25497044|PMID:25533962|PMID:25556537|PMID:25640679|PMID:25658047|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27184330|PMID:27652284|PMID:27779742|PMID:27798625|PMID:28133863|PMID:28135719|PMID:28387360|PMID:28387369|PMID:28492532|PMID:28628100|PMID:28947817|PMID:29056246|PMID:29067685|PMID:29186148|PMID:29264391|PMID:29314583|PMID:29538625|PMID:29655203|PMID:29761117|PMID:29896790|PMID:30174244|PMID:30185235|PMID:30266908|PMID:30397338|PMID:30488659|PMID:30504930|PMID:30540253|PMID:30842647|PMID:31175295|PMID:31221716|PMID:31255830|PMID:31332438|PMID:31474318|PMID:31780880|PMID:32112430|PMID:32238909|PMID:32521962|PMID:32581362|PMID:32643187|PMID:32960281|PMID:33004838|PMID:33196034|PMID:33206935|PMID:33272087|PMID:34489640|PMID:35007884|PMID:35655584|PMID:9536098 12241528 STXBP1 syntaxin binding protein 1 gene DOID:10283 prostate cancer ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12241528 STXBP1 syntaxin binding protein 1 gene DOID:1059 intellectual disability ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:20887364|PMID:21770924|PMID:22612257|PMID:23708187|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:25008876|PMID:25418441|PMID:25533962|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26865513|PMID:26918652|PMID:27159321|PMID:27779742|PMID:28133863|PMID:28135719|PMID:28492532|PMID:30842647|PMID:32581362 12241528 STXBP1 syntaxin binding protein 1 gene DOID:1059 intellectual disability ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Severe intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:20887364|PMID:21770924|PMID:22612257|PMID:23708187|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:25008876|PMID:25418441|PMID:25533962|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26865513|PMID:26918652|PMID:27159321|PMID:27779742|PMID:28133863|PMID:28135719|PMID:28492532|PMID:29067685|PMID:29186148|PMID:30185235|PMID:30842647|PMID:32581362|PMID:33196034 12241528 STXBP1 syntaxin binding protein 1 gene DOID:10907 microcephaly ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12241528 STXBP1 syntaxin binding protein 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:11361 D RGD:9068941 20200609 RGD PMID:26604869|REF_RGD_ID:12903957 12241528 STXBP1 syntaxin binding protein 1 gene DOID:12849 autistic disorder ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:23708187|PMID:23934111|PMID:26514728|PMID:26544041|PMID:26633542|PMID:28492532|PMID:32581362 12241528 STXBP1 syntaxin binding protein 1 gene DOID:12849 autistic disorder ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic disorder PMID:23708187|PMID:23934111|PMID:25741868|PMID:26514728|PMID:26544041|PMID:26633542|PMID:28492532|PMID:32581362 12241528 STXBP1 syntaxin binding protein 1 gene DOID:1289 neurodegenerative disease ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:23708187|PMID:23934111|PMID:25741868|PMID:26514728|PMID:26544041|PMID:26633542|PMID:28492532|PMID:32581362 12241528 STXBP1 syntaxin binding protein 1 gene DOID:1826 epilepsy ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:24189369|PMID:25418441|PMID:25741868|PMID:28133863|PMID:28492532 12241528 STXBP1 syntaxin binding protein 1 gene DOID:540 strabismus ISO RGD:737322 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Strabismus PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 12241528 STXBP1 syntaxin binding protein 1 gene DOID:630 genetic disease ISO RGD:737322 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16806828|PMID:16829045|PMID:17301226|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20196795|PMID:20876469|PMID:20887364|PMID:21062273|PMID:21204804|PMID:21364700|PMID:21762454|PMID:21770924|PMID:22495311|PMID:22722545|PMID:23020937|PMID:23409955|PMID:23708187|PMID:23858467|PMID:23934111|PMID:24315539|PMID:24623842|PMID:24781210|PMID:24836964|PMID:25008876|PMID:25131622|PMID:25284778|PMID:25356970|PMID:25533962|PMID:25556537|PMID:25621899|PMID:25714420|PMID:25741868|PMID:25914188|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26537360|PMID:26544041|PMID:26633542|PMID:26740508|PMID:26795593|PMID:26865513|PMID:26993267|PMID:27069701|PMID:27184330|PMID:27652284|PMID:27779742|PMID:27798625|PMID:28492532|PMID:29067685|PMID:29186148|PMID:29264391|PMID:29761117|PMID:29896790|PMID:30504930|PMID:31175295|PMID:31255830|PMID:32238909|PMID:32581362|PMID:32643187|PMID:33196034|PMID:33272087|PMID:35007884|PMID:35655584|PMID:9536098|PMID:9545644 12241528 STXBP1 syntaxin binding protein 1 gene DOID:9000495 Tremor ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: tremors PMID:20887364|PMID:24033266|PMID:25533962|PMID:25741868|PMID:26384463|PMID:26865513|PMID:26918652|PMID:27159321|PMID:28135719|PMID:28492532 12241528 STXBP1 syntaxin binding protein 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:20887364|PMID:21762454|PMID:23934111|PMID:24033266|PMID:25533962|PMID:25741868|PMID:26384463|PMID:26648591|PMID:26865513|PMID:26918652|PMID:27159321|PMID:27171548|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28947817|PMID:32581362 12241528 STXBP1 syntaxin binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737322 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889|PMID:29942082 12241528 STXBP1 syntaxin binding protein 1 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:737322 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:18469812|PMID:29929108 12241528 STXBP1 syntaxin binding protein 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:737322 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 12241528 STXBP1 syntaxin binding protein 1 gene DOID:9007428 Muscle Spasticity ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spasticity 12241528 STXBP1 syntaxin binding protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:737322 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 12241528 STXBP1 syntaxin binding protein 1 gene DOID:9008582 Developmental Disease ISO RGD:737322 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:22495311|PMID:23409955|PMID:25741868|PMID:26467025|PMID:26514728|PMID:26865513|PMID:27069701|PMID:28492532 12241528 STXBP1 syntaxin binding protein 1 gene DOID:9650 pathologic nystagmus ISO RGD:737322 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Horizontal nystagmus PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 12241554 ZNF318 zinc finger protein 318 gene DOID:0050444 infantile Refsum disease ISO RGD:1318587 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12241554 ZNF318 zinc finger protein 318 gene DOID:630 genetic disease ISO RGD:1318587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12241554 ZNF318 zinc finger protein 318 gene DOID:905 Zellweger syndrome ISO RGD:1318587 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12241578 LOC609513 signal-regulatory protein delta-like gene DOID:0080600 COVID-19 ISO RGD:1353362 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12241578 LOC609513 signal-regulatory protein delta-like gene DOID:630 genetic disease ISO RGD:1353362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12241587 NRTN neurturin gene DOID:10487 Hirschsprung's disease ISO RGD:731950 D RGD:9068941 20200609 RGD PMID:9700200|REF_RGD_ID:1600267 12241587 NRTN neurturin gene DOID:12895 keratoconjunctivitis sicca ISO RGD:731951 D RGD:9068941 20200609 RGD PMID:14507865|REF_RGD_ID:7349377 12241587 NRTN neurturin gene DOID:630 genetic disease ISO RGD:731950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12241612 CKS2 CDC28 protein kinase regulatory subunit 2 gene DOID:0080600 COVID-19 ISO RGD:1348782 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12241612 CKS2 CDC28 protein kinase regulatory subunit 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1348782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12241626 LOC100688839 uncharacterized LOC100688839 gene DOID:630 genetic disease ISO RGD:16567992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12241627 SMPDL3B sphingomyelin phosphodiesterase acid like 3B gene DOID:630 genetic disease ISO RGD:1316663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12241791 HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:0050632 oculocutaneous albinism ISO RGD:1605436 D RGD:9068941 20200609 RGD associated with Hermanski-Pudlak Syndrome;DNA:mutations:multiple: PMID:16185271|REF_RGD_ID:11354899 12241791 HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:0060539 Hermansky-Pudlak syndrome 1 ISO RGD:1605436 D RGD:7240710 20180130 OMIM 12241791 HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:0060539 Hermansky-Pudlak syndrome 1 ISO RGD:1605436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1 PMID:10971344|PMID:12442288|PMID:14510955|PMID:15952982|PMID:16185271|PMID:16199547|PMID:17365864|PMID:17576681|PMID:18326704|PMID:19334085|PMID:20301464|PMID:20514622|PMID:20662851|PMID:21458243|PMID:21833017|PMID:24033266|PMID:24583434|PMID:25741868|PMID:26785811|PMID:26806224|PMID:27593200|PMID:28081892|PMID:28492532|PMID:29941477|PMID:30634918|PMID:31064749|PMID:31141302|PMID:32581362|PMID:8274781|PMID:8896559|PMID:9345105|PMID:9497254|PMID:9536098|PMID:9562579|PMID:9705234 12241791 HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:0060542 Hermansky-Pudlak syndrome 4 ISO RGD:1605436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome with pulmonary fibrosis PMID:12442288|PMID:16185271|PMID:25741868|PMID:28492532 12241791 HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:2223 platelet storage pool deficiency ISO RGD:69205 D RGD:9068941 20220825 MouseDO OMIM:185050 12241791 HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1605436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:12442288|PMID:14510955|PMID:15952982|PMID:16185271|PMID:16199547|PMID:17365864|PMID:19334085|PMID:19398212|PMID:19665357|PMID:20301464|PMID:20514622|PMID:20662851|PMID:21458243|PMID:23103514|PMID:24033266|PMID:25741868|PMID:26575419|PMID:26785811|PMID:26806224|PMID:27593200|PMID:28081892|PMID:28492532|PMID:29941477|PMID:30387913|PMID:30985222|PMID:31064749|PMID:31141302|PMID:31898847|PMID:32581362|PMID:8274781|PMID:8896559|PMID:9345105|PMID:9497254|PMID:9562579|PMID:9705234 12241791 HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:630 genetic disease ISO RGD:1605436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12442288|PMID:16185271|PMID:20662851|PMID:24033266|PMID:25741868|PMID:27593200|PMID:28492532|PMID:8896559|PMID:9345105|PMID:9497254|PMID:9562579 12241829 STK36 serine/threonine kinase 36 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1316442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12241829 STK36 serine/threonine kinase 36 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1316442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12241829 STK36 serine/threonine kinase 36 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1316442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12241829 STK36 serine/threonine kinase 36 gene DOID:10908 hydrocephalus ISO RGD:1550700 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 12241829 STK36 serine/threonine kinase 36 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1316442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12241829 STK36 serine/threonine kinase 36 gene DOID:630 genetic disease ISO RGD:1316442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12241829 STK36 serine/threonine kinase 36 gene DOID:9001692 Primary Ciliary Dyskinesia 46 ISO RGD:1316442 D RGD:7240710 20210728 OMIM 12241829 STK36 serine/threonine kinase 36 gene DOID:9001692 Primary Ciliary Dyskinesia 46 ISO RGD:1316442 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 46 PMID:25741868|PMID:28492532|PMID:28543983 12241829 STK36 serine/threonine kinase 36 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12241829 STK36 serine/threonine kinase 36 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12241922 IRF5 interferon regulatory factor 5 gene DOID:0050211 swine influenza disease_progression ISO RGD:1321355 D RGD:9068941 20210115 RGD PMID:29046356|REF_RGD_ID:40924628 12241922 IRF5 interferon regulatory factor 5 gene DOID:0050521 Oropouche fever ISO RGD:1321355 D RGD:9068941 20210115 RGD PMID:26468541|REF_RGD_ID:11075056 12241922 IRF5 interferon regulatory factor 5 gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1321354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:28492532 12241922 IRF5 interferon regulatory factor 5 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1321354 D RGD:9068941 20210115 RGD mRNA:increased expression:liver PMID:27942586|REF_RGD_ID:40924562 12241922 IRF5 interferon regulatory factor 5 gene DOID:0080600 COVID-19 ISO RGD:1321354 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12241922 IRF5 interferon regulatory factor 5 gene DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 ISO RGD:1321354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F PMID:28492532 12241922 IRF5 interferon regulatory factor 5 gene DOID:0110895 inflammatory bowel disease 14 ISO RGD:1321354 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 12241922 IRF5 interferon regulatory factor 5 gene DOID:0110895 inflammatory bowel disease 14 susceptibility ISO RGD:1321354 D RGD:7240710 20230505 OMIM 12241922 IRF5 interferon regulatory factor 5 gene DOID:13603 obstructive jaundice ISO RGD:1310447 D RGD:9068941 20210122 RGD mRNA,protein:increased expression:liver,nucleus: PMID:21737101|REF_RGD_ID:10402168 12241922 IRF5 interferon regulatory factor 5 gene DOID:1883 hepatitis C ISO RGD:1321354 D RGD:9068941 20210115 RGD mRNA:increased expression:liver PMID:27942586|REF_RGD_ID:40924562 12241922 IRF5 interferon regulatory factor 5 gene DOID:1883 hepatitis C treatment ISO RGD:1321354 D RGD:9068941 20210115 RGD PMID:28259968|REF_RGD_ID:40924642 12241922 IRF5 interferon regulatory factor 5 gene DOID:2366 West Nile fever disease_progression ISO RGD:1321355 D RGD:9068941 20210115 RGD PMID:25031348|REF_RGD_ID:40924561 12241922 IRF5 interferon regulatory factor 5 gene DOID:2377 multiple sclerosis ISO RGD:1321354 D RGD:9068941 20210115 RGD PMID:25392335|REF_RGD_ID:11055911 12241922 IRF5 interferon regulatory factor 5 gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1321354 D RGD:9068941 20210115 RGD DNA:SNPs: :rs3807306, rs4728142 (human) PMID:20861862|REF_RGD_ID:40924643 12241922 IRF5 interferon regulatory factor 5 gene DOID:418 systemic scleroderma ISO RGD:1321354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20383147 12241922 IRF5 interferon regulatory factor 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12241922 IRF5 interferon regulatory factor 5 gene DOID:5082 liver cirrhosis ISO RGD:1321355 D RGD:9068941 20210115 RGD PMID:27942586|REF_RGD_ID:40924562 12241922 IRF5 interferon regulatory factor 5 gene DOID:5082 liver cirrhosis severity ISO RGD:1321354 D RGD:9068941 20210115 RGD PMID:27942586|REF_RGD_ID:40924562 12241922 IRF5 interferon regulatory factor 5 gene DOID:5199 ureteral obstruction treatment ISO RGD:1310447 D RGD:9068941 20210122 RGD PMID:31177020|REF_RGD_ID:40924651 12241922 IRF5 interferon regulatory factor 5 gene DOID:552 pneumonia severity ISO RGD:1321354 D RGD:9068941 20210115 RGD PMID:29847542|REF_RGD_ID:40907064 12241922 IRF5 interferon regulatory factor 5 gene DOID:630 genetic disease ISO RGD:1321354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12241922 IRF5 interferon regulatory factor 5 gene DOID:7148 rheumatoid arthritis ISO RGD:1321354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis PMID:15657875|PMID:16642019|PMID:17599733|PMID:18063667 12241922 IRF5 interferon regulatory factor 5 gene DOID:820 myocarditis treatment ISO RGD:1321355 D RGD:9068941 20210115 RGD associated with Coxsackievirus Infections; PMID:31279856|REF_RGD_ID:40907063 12241922 IRF5 interferon regulatory factor 5 gene DOID:848 arthritis ISO RGD:1321355 D RGD:9068941 20210115 RGD PMID:32743529|REF_RGD_ID:40924631 12241922 IRF5 interferon regulatory factor 5 gene DOID:8566 herpes simplex susceptibility ISO RGD:1321354 D RGD:9068941 20210115 RGD associated with multiple sclerosis;DNA:SNP: :rs3807306 (human) PMID:20861862|REF_RGD_ID:40924643 12241922 IRF5 interferon regulatory factor 5 gene DOID:8577 ulcerative colitis ISO RGD:1321354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 12241922 IRF5 interferon regulatory factor 5 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1310447 D RGD:9068941 20210122 RGD PMID:24968269|REF_RGD_ID:40924652 12241922 IRF5 interferon regulatory factor 5 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:1310447 D RGD:9068941 20210122 RGD protein:increased expression:spinal dorsal horn PMID:29927790|REF_RGD_ID:40924654 12241922 IRF5 interferon regulatory factor 5 gene DOID:9006439 Electric Burns treatment ISO RGD:1321355 D RGD:9068941 20210115 RGD PMID:28620671|REF_RGD_ID:40907061 12241922 IRF5 interferon regulatory factor 5 gene DOID:9074 systemic lupus erythematosus ISO RGD:1321354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, association with susceptibility to, 10 | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 10 PMID:15657875|PMID:16642019|PMID:17189288|PMID:17393452|PMID:17476532|PMID:17599733|PMID:18063667|PMID:25741868 12241922 IRF5 interferon regulatory factor 5 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1321354 D RGD:7240710 20190502 OMIM 12241922 IRF5 interferon regulatory factor 5 gene DOID:9146 visceral leishmaniasis ISO RGD:1321355 D RGD:9068941 20210115 RGD PMID:32038622|REF_RGD_ID:40924560 12241922 IRF5 interferon regulatory factor 5 gene DOID:9146 visceral leishmaniasis ISO RGD:1321355 D RGD:9068941 20210115 RGD protein:increased expression:CD4 T cell, nucleus PMID:30067973|REF_RGD_ID:40924629 12241951 STOX2 storkhead box 2 gene DOID:630 genetic disease ISO RGD:1601982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12241980 IL16 interleukin 16 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1351288 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs1131445) T>C (human) PMID:27354594|REF_RGD_ID:152177496 12241980 IL16 interleukin 16 gene DOID:10283 prostate cancer ISO RGD:1351288 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs4072111 (human) PMID:18264096|REF_RGD_ID:2293182 12241980 IL16 interleukin 16 gene DOID:1205 allergic disease ISO RGD:1351288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23624239 12241980 IL16 interleukin 16 gene DOID:2717 Bloom syndrome ISO RGD:1351288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12241980 IL16 interleukin 16 gene DOID:2841 asthma ISO RGD:1351288 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-295T>C (human) PMID:16387589|REF_RGD_ID:5024934 12241980 IL16 interleukin 16 gene DOID:2841 asthma ISO RGD:1351288 D RGD:9068941 20200609 RGD associated with Rhinitis;protein:increased expression:respiratory system fluid/secretion PMID:16734115|REF_RGD_ID:5024928 12241980 IL16 interleukin 16 gene DOID:2841 asthma ISO RGD:1557964 D RGD:9068941 20200609 RGD PMID:10585533|REF_RGD_ID:5024937 12241980 IL16 interleukin 16 gene DOID:2841 asthma no_association ISO RGD:1351288 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-295T>C (human) PMID:15784111|REF_RGD_ID:5024935 12241980 IL16 interleukin 16 gene DOID:2841 asthma severity ISO RGD:1351288 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12872394|REF_RGD_ID:5024930 12241980 IL16 interleukin 16 gene DOID:3068 glioblastoma ISO RGD:1583872 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17221335|REF_RGD_ID:5024941 12241980 IL16 interleukin 16 gene DOID:3069 malignant astrocytoma ISO RGD:1351288 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17221335|REF_RGD_ID:5024941 12241980 IL16 interleukin 16 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1351288 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20079227|REF_RGD_ID:5024924 12241980 IL16 interleukin 16 gene DOID:3388 periodontal disease ISO RGD:1583872 D RGD:9068941 20200609 RGD mRNA:increased expression:T cell PMID:20618701|REF_RGD_ID:5024938 12241980 IL16 interleukin 16 gene DOID:4483 rhinitis ISO RGD:1351288 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18254318|REF_RGD_ID:5024932 12241980 IL16 interleukin 16 gene DOID:4483 rhinitis ISO RGD:1557964 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium, serum PMID:19295235|REF_RGD_ID:5024931 12241980 IL16 interleukin 16 gene DOID:5154 borna disease ISO RGD:1583872 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:14698845|REF_RGD_ID:1354526 12241980 IL16 interleukin 16 gene DOID:630 genetic disease ISO RGD:1351288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12241980 IL16 interleukin 16 gene DOID:8544 chronic fatigue syndrome ISO RGD:1351288 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:26615570|REF_RGD_ID:11538286 12241980 IL16 interleukin 16 gene DOID:9000998 Brain Injuries ISO RGD:1583872 D RGD:9068941 20200609 RGD PMID:17983426|REF_RGD_ID:5024939 12241980 IL16 interleukin 16 gene DOID:9001363 Heavy Metal Poisoning, Nervous System ISO RGD:1583872 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:14698845|REF_RGD_ID:1354526 12241980 IL16 interleukin 16 gene DOID:9001472 Nasal Polyps ISO RGD:1351288 D RGD:9068941 20200609 RGD associated with Sinusitis PMID:17431659|REF_RGD_ID:5024933 12241980 IL16 interleukin 16 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264096 12241980 IL16 interleukin 16 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1583872 D RGD:9068941 20200609 RGD PMID:17641011|REF_RGD_ID:5024940 12241980 IL16 interleukin 16 gene DOID:9003281 Spontaneous Abortions ISO RGD:1351288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12241980 IL16 interleukin 16 gene DOID:9004484 Sepsis ISO RGD:1557964 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic;protein:increased expression:lung PMID:19641139|REF_RGD_ID:5024925 12241980 IL16 interleukin 16 gene DOID:9008680 Respiratory Tract Infections ISO RGD:1351288 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14633438|REF_RGD_ID:4145665 12241980 IL16 interleukin 16 gene DOID:9256 colorectal cancer ISO RGD:1351288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12242024 JAKMIP1 janus kinase and microtubule interacting protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1619087 D RGD:9068941 20220825 MouseDO 12242024 JAKMIP1 janus kinase and microtubule interacting protein 1 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1605275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:27799067 12242024 JAKMIP1 janus kinase and microtubule interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:1605275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12242024 JAKMIP1 janus kinase and microtubule interacting protein 1 gene DOID:12849 autistic disorder ISO RGD:1605275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17519220 12242024 JAKMIP1 janus kinase and microtubule interacting protein 1 gene DOID:630 genetic disease ISO RGD:1605275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242024 JAKMIP1 janus kinase and microtubule interacting protein 1 gene DOID:6678 tooth and nail syndrome ISO RGD:1605275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 12242074 HBEGF heparin binding EGF like growth factor gene DOID:0050851 glomerulosclerosis induced ISO RGD:1605733 D RGD:9068941 20200910 RGD PMID:16107576|REF_RGD_ID:1556472 12242074 HBEGF heparin binding EGF like growth factor gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1605733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12242074 HBEGF heparin binding EGF like growth factor gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605733 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12242074 HBEGF heparin binding EGF like growth factor gene DOID:289 endometriosis ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12242074 HBEGF heparin binding EGF like growth factor gene DOID:3021 acute kidney failure ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7635938 12242074 HBEGF heparin binding EGF like growth factor gene DOID:3021 acute kidney failure ISO RGD:2526 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:11340354|REF_RGD_ID:10395241 12242074 HBEGF heparin binding EGF like growth factor gene DOID:630 genetic disease ISO RGD:1605733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242074 HBEGF heparin binding EGF like growth factor gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12242074 HBEGF heparin binding EGF like growth factor gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023256 12242074 HBEGF heparin binding EGF like growth factor gene DOID:783 end stage renal disease ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937979 12242074 HBEGF heparin binding EGF like growth factor gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16567187 12242074 HBEGF heparin binding EGF like growth factor gene DOID:8677 perinatal necrotizing enterocolitis treatment ISO RGD:1605733 D RGD:9068941 20200609 RGD PMID:18607263|REF_RGD_ID:10395236 12242074 HBEGF heparin binding EGF like growth factor gene DOID:9000217 Stomach Neoplasms ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15723263 12242074 HBEGF heparin binding EGF like growth factor gene DOID:9002371 Cardiotoxicity ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29305325 12242074 HBEGF heparin binding EGF like growth factor gene DOID:9004009 Reperfusion Injury ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7635938 12242074 HBEGF heparin binding EGF like growth factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12242074 HBEGF heparin binding EGF like growth factor gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9709397 12242074 HBEGF heparin binding EGF like growth factor gene DOID:9006205 Animal Disease Models ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937979 12242074 HBEGF heparin binding EGF like growth factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605733 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12242105 PLXNC1 plexin C1 gene DOID:0111125 nephronophthisis 18 ISO RGD:1316607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis 18 PMID:28492532 12242105 PLXNC1 plexin C1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1316607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 12242105 PLXNC1 plexin C1 gene DOID:289 endometriosis ISO RGD:1316607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12242105 PLXNC1 plexin C1 gene DOID:630 genetic disease ISO RGD:1316607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242146 LOC100686162 interferon alpha-2-like gene DOID:5419 schizophrenia ISO RGD:1350481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12242146 LOC100686162 interferon alpha-2-like gene DOID:630 genetic disease ISO RGD:1350481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242150 SLC25A18 solute carrier family 25 member 18 gene DOID:0111996 immunodeficiency 51 ISO RGD:1350192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12242150 SLC25A18 solute carrier family 25 member 18 gene DOID:630 genetic disease ISO RGD:1350192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242150 SLC25A18 solute carrier family 25 member 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12242150 SLC25A18 solute carrier family 25 member 18 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1350192 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12242208 ERLEC1 endoplasmic reticulum lectin 1 gene DOID:13580 cholestasis ISO RGD:1315163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12242208 ERLEC1 endoplasmic reticulum lectin 1 gene DOID:630 genetic disease ISO RGD:1315163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242208 ERLEC1 endoplasmic reticulum lectin 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1315163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12242208 ERLEC1 endoplasmic reticulum lectin 1 gene DOID:9007478 Malocclusion, Angle Class III ISO RGD:1315163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hapsburg jaw 12242230 PROP1 PROP paired-like homeobox 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1344010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12242230 PROP1 PROP paired-like homeobox 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1344010 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12242230 PROP1 PROP paired-like homeobox 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1344010 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12242230 PROP1 PROP paired-like homeobox 1 gene DOID:13938 amenorrhea ISO RGD:1344010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:28492532|PMID:32870266 12242230 PROP1 PROP paired-like homeobox 1 gene DOID:1923 disorder of sexual development ISO RGD:1344010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 12242230 PROP1 PROP paired-like homeobox 1 gene DOID:1924 hypogonadism ISO RGD:1344010 D RGD:9068941 20200609 RGD DNA:point mutation:exon:W194X PMID:15941866|REF_RGD_ID:1601504 12242230 PROP1 PROP paired-like homeobox 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1344010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12242230 PROP1 PROP paired-like homeobox 1 gene DOID:630 genetic disease ISO RGD:1344010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12519826|PMID:18157385|PMID:25741868|PMID:28492532 12242230 PROP1 PROP paired-like homeobox 1 gene DOID:9003666 Combined Pituitary Hormone Deficiency ISO RGD:1344010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined PMID:15963055|PMID:18157385|PMID:25741868|PMID:26467025|PMID:27756091|PMID:28492532|PMID:9462743|PMID:9745452 12242230 PROP1 PROP paired-like homeobox 1 gene DOID:9008340 Combined Pituitary Hormone Deficiency, 2 ISO RGD:1344010 D RGD:7240710 20180130 OMIM 12242230 PROP1 PROP paired-like homeobox 1 gene DOID:9008340 Combined Pituitary Hormone Deficiency, 2 ISO RGD:1344010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 2 PMID:10323394|PMID:10599689|PMID:10946881|PMID:11134108|PMID:11549674|PMID:11549703|PMID:12153609|PMID:12519826|PMID:12859410|PMID:14614227|PMID:15126542|PMID:15472232|PMID:15531542|PMID:15670191|PMID:15941866|PMID:15963055|PMID:16131601|PMID:16544023|PMID:16735499|PMID:16759034|PMID:16984240|PMID:17526936|PMID:17526949|PMID:18157385|PMID:19128366|PMID:20381582|PMID:20981092|PMID:21132537|PMID:21863341|PMID:22024773|PMID:22111336|PMID:23624138|PMID:24033266|PMID:25557026|PMID:25741868|PMID:26059845|PMID:26467025|PMID:26608600|PMID:26886902|PMID:27756091|PMID:28492532|PMID:28734020|PMID:30266296|PMID:32870266|PMID:9462743|PMID:9661653|PMID:9745452|PMID:9768691|PMID:9824293 12242230 PROP1 PROP paired-like homeobox 1 gene DOID:9406 hypopituitarism ISO RGD:1344010 D RGD:9068941 20200609 RGD combined pituitary hormone deficiency,OMIM:262600;DNA:point mutation:exon:R120C PMID:9768691|REF_RGD_ID:1601503 12242230 PROP1 PROP paired-like homeobox 1 gene DOID:9406 hypopituitarism ISO RGD:733046 D RGD:9068941 20220825 MouseDO OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 12242230 PROP1 PROP paired-like homeobox 1 gene DOID:9410 panhypopituitarism ISO RGD:1344010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Panhypopituitarism | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined PMID:11549674|PMID:15126542|PMID:15472232|PMID:15963055|PMID:16735499|PMID:17526936|PMID:18157385|PMID:21863341|PMID:22024773|PMID:25741868|PMID:26059845|PMID:26467025|PMID:26608600|PMID:26886902|PMID:27756091|PMID:28492532|PMID:28734020|PMID:30266296|PMID:9462743|PMID:9745452|PMID:9768691 12242235 GBA2 glucosylceramidase beta 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1313721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12242235 GBA2 glucosylceramidase beta 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1313721 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12242235 GBA2 glucosylceramidase beta 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:1313721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12242235 GBA2 glucosylceramidase beta 2 gene DOID:0110798 hereditary spastic paraplegia 46 ISO RGD:1313721 D RGD:7240710 20180130 OMIM 12242235 GBA2 glucosylceramidase beta 2 gene DOID:0110798 hereditary spastic paraplegia 46 ISO RGD:1313721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 46 PMID:16199547|PMID:20593214|PMID:23332916|PMID:23332917|PMID:24252062|PMID:25741868|PMID:26220345|PMID:28492532|PMID:28832565|PMID:30308956 12242235 GBA2 glucosylceramidase beta 2 gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:1313721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A PMID:25741868|PMID:28492532|PMID:29453417 12242235 GBA2 glucosylceramidase beta 2 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1313721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12242235 GBA2 glucosylceramidase beta 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1313721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12242235 GBA2 glucosylceramidase beta 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1313721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 12242235 GBA2 glucosylceramidase beta 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1313721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:20593214|PMID:23332916|PMID:23332917|PMID:25741868|PMID:26220345|PMID:28492532|PMID:28832565 12242235 GBA2 glucosylceramidase beta 2 gene DOID:607 paraplegia ISO RGD:1313721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:23332916|PMID:23332917|PMID:25741868|PMID:26220345|PMID:28052128|PMID:28492532|PMID:29453417|PMID:32590105|PMID:9536098 12242235 GBA2 glucosylceramidase beta 2 gene DOID:630 genetic disease ISO RGD:1313721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23332916|PMID:23332917|PMID:25741868|PMID:28492532 12242235 GBA2 glucosylceramidase beta 2 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1313721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12242235 GBA2 glucosylceramidase beta 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12242235 GBA2 glucosylceramidase beta 2 gene DOID:9870 galactosemia ISO RGD:1313721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12242256 SNX10 sorting nexin 10 gene DOID:0080600 COVID-19 ISO RGD:1314019 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12242256 SNX10 sorting nexin 10 gene DOID:0110940 autosomal recessive osteopetrosis 8 ISO RGD:1314019 D RGD:7240710 20180130 OMIM 12242256 SNX10 sorting nexin 10 gene DOID:0110940 autosomal recessive osteopetrosis 8 ISO RGD:1314019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 8 PMID:22499339|PMID:23123320|PMID:23280965|PMID:25212774|PMID:25741868|PMID:25811986|PMID:28492532 12242256 SNX10 sorting nexin 10 gene DOID:13533 osteopetrosis ISO RGD:1314019 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Infantile osteopetrosis PMID:25741868 12242256 SNX10 sorting nexin 10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12242256 SNX10 sorting nexin 10 gene DOID:630 genetic disease ISO RGD:1314019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12242256 SNX10 sorting nexin 10 gene DOID:9007188 Liver Neoplasms ISO RGD:1314019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12242272 CHKA choline kinase alpha gene DOID:0050912 colon adenoma ISO RGD:1604072 D RGD:9068941 20200609 RGD protein:increased expression:colonic mucosa (human) PMID:10363580|REF_RGD_ID:10401945 12242272 CHKA choline kinase alpha gene DOID:0080016 spina bifida ISO RGD:1604072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17184542 12242272 CHKA choline kinase alpha gene DOID:1059 intellectual disability ISO RGD:1604072 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:35202461 12242272 CHKA choline kinase alpha gene DOID:10907 microcephaly ISO RGD:1604072 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:35202461 12242272 CHKA choline kinase alpha gene DOID:1826 epilepsy ISO RGD:1604072 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:35202461 12242272 CHKA choline kinase alpha gene DOID:219 colon cancer ISO RGD:61944 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:colon (rat) PMID:10622531|REF_RGD_ID:10401869 12242272 CHKA choline kinase alpha gene DOID:224 transient cerebral ischemia ISO RGD:61944 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex (rat) PMID:16300643|REF_RGD_ID:10401831 12242272 CHKA choline kinase alpha gene DOID:630 genetic disease ISO RGD:1604072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242272 CHKA choline kinase alpha gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1604072 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12242272 CHKA choline kinase alpha gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12242303 CDC37L1 cell division cycle 37 like 1, HSP90 cochaperone gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1319564 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12242303 CDC37L1 cell division cycle 37 like 1, HSP90 cochaperone gene DOID:630 genetic disease ISO RGD:1319564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242314 HNRNPUL1 heterogeneous nuclear ribonucleoprotein U like 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1316659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12242314 HNRNPUL1 heterogeneous nuclear ribonucleoprotein U like 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1316659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12242314 HNRNPUL1 heterogeneous nuclear ribonucleoprotein U like 1 gene DOID:2340 craniosynostosis ISO RGD:1316659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12242314 HNRNPUL1 heterogeneous nuclear ribonucleoprotein U like 1 gene DOID:630 genetic disease ISO RGD:1316659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242314 HNRNPUL1 heterogeneous nuclear ribonucleoprotein U like 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1316659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12242314 HNRNPUL1 heterogeneous nuclear ribonucleoprotein U like 1 gene DOID:9269 maple syrup urine disease ISO RGD:1316659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12242345 ATP2B2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:736839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA 12242345 ATP2B2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:736839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 12242345 ATP2B2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy ISO RGD:736839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy PMID:15829536|PMID:22047666|PMID:25741868|PMID:27535533|PMID:28492532 12242345 ATP2B2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:736839 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:25741868 12242345 ATP2B2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:736839 D RGD:7240710 20180130 OMIM 12242345 ATP2B2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:736839 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12, modifier of PMID:15829536|PMID:22047666|PMID:25741868|PMID:27535533|PMID:28492532|PMID:29452611 12242345 ATP2B2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:630 genetic disease ISO RGD:736839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12242345 ATP2B2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:9001133 Autosomal Dominant Nonsyndromic Deafness 82 ISO RGD:736839 D RGD:7240710 20220406 OMIM 12242345 ATP2B2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:9001133 Autosomal Dominant Nonsyndromic Deafness 82 ISO RGD:736839 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ATP2B2-related Progressive hearing impairment | ClinVar Annotator: match by term: Deafness, autosomal dominant 82 PMID:25741868|PMID:28492532|PMID:30535804 12242345 ATP2B2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12242345 ATP2B2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:9004538 Hearing Loss ISO RGD:736839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 12242345 ATP2B2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:736839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12242401 ESF1 ESF1 nucleolar pre-rRNA processing protein homolog gene DOID:630 genetic disease ISO RGD:1314468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242434 DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 gene DOID:0060575 3MC syndrome 1 ISO RGD:1316536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 12242434 DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 gene DOID:12215 oligohydramnios ISO RGD:1316536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: anhydramnios PMID:25741868|PMID:35005812 12242434 DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 gene DOID:2975 cystic kidney disease ISO RGD:1316536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal cyst PMID:25741868 12242434 DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 gene DOID:630 genetic disease ISO RGD:1316536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:32631624 12242434 DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 gene DOID:9009199 Polycystic Kidney Disease 6 with or without Polycystic Liver Disease ISO RGD:1316536 D RGD:7240710 20190315 OMIM 12242434 DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 gene DOID:9009199 Polycystic Kidney Disease 6 with or without Polycystic Liver Disease ISO RGD:1316536 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 6 with or without polycystic liver disease PMID:25741868|PMID:29706351|PMID:32631624 12242447 COQ7 coenzyme Q7, hydroxylase gene DOID:0060859 salmonellosis susceptibility ISO RGD:10379 D RGD:9068941 20200609 RGD PMID:23166727|REF_RGD_ID:10402105 12242447 COQ7 coenzyme Q7, hydroxylase gene DOID:0070245 primary coenzyme Q10 deficiency 8 ISO RGD:737189 D RGD:7240710 20190315 OMIM 12242447 COQ7 coenzyme Q7, hydroxylase gene DOID:0070245 primary coenzyme Q10 deficiency 8 ISO RGD:737189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary coenzyme Q10 deficiency 8 PMID:25741868|PMID:26084283|PMID:28492532|PMID:30369941|PMID:31240163|PMID:32963807 12242447 COQ7 coenzyme Q7, hydroxylase gene DOID:224 transient cerebral ischemia severity ISO RGD:10379 D RGD:9068941 20200609 RGD PMID:20170652|REF_RGD_ID:10402096 12242447 COQ7 coenzyme Q7, hydroxylase gene DOID:630 genetic disease ISO RGD:737189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12242447 COQ7 coenzyme Q7, hydroxylase gene DOID:890 mitochondrial encephalomyopathy ISO RGD:10379 D RGD:9068941 20200609 RGD protein:decreased expression:heart (mouse) PMID:23255162|REF_RGD_ID:10402107 12242447 COQ7 coenzyme Q7, hydroxylase gene DOID:9002644 Premature Aging ISO RGD:10379 D RGD:9068941 20200609 RGD PMID:19478076|REF_RGD_ID:10402088 12242447 COQ7 coenzyme Q7, hydroxylase gene DOID:9003690 Carcinoma, Lewis Lung susceptibility ISO RGD:10379 D RGD:9068941 20200609 RGD PMID:23166727|REF_RGD_ID:10402105 12242447 COQ7 coenzyme Q7, hydroxylase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:2381 D RGD:9068941 20200609 RGD associated with Hypertension;protein:altered expression:heart PMID:17130255|REF_RGD_ID:2313649 12242447 COQ7 coenzyme Q7, hydroxylase gene DOID:9007346 Cachexia susceptibility ISO RGD:10379 D RGD:9068941 20200609 RGD PMID:23166727|REF_RGD_ID:10402105 12242466 AP2B1 adaptor related protein complex 2 subunit beta 1 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:734047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 12242466 AP2B1 adaptor related protein complex 2 subunit beta 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:71048 D RGD:9068941 20200609 RGD protein:increased degradation:brain PMID:19240038|REF_RGD_ID:13461853 12242466 AP2B1 adaptor related protein complex 2 subunit beta 1 gene DOID:630 genetic disease ISO RGD:734047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242498 PGK1 phosphoglycerate kinase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12242498 PGK1 phosphoglycerate kinase 1 gene DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ISO RGD:1353723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia PMID:28492532 12242498 PGK1 phosphoglycerate kinase 1 gene DOID:0111933 phosphoglycerate kinase 1 deficiency ISO RGD:1353723 D RGD:7240710 20180130 OMIM 12242498 PGK1 phosphoglycerate kinase 1 gene DOID:0111933 phosphoglycerate kinase 1 deficiency ISO RGD:1353723 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | ClinVar Annotator: match by term: PGK1-Related Disorder PMID:1547346|PMID:1586722|PMID:16412025|PMID:16567715|PMID:16671097|PMID:16740138|PMID:19157875|PMID:2001457|PMID:22348148|PMID:25741868|PMID:2715616|PMID:27848944|PMID:28492532|PMID:31175295|PMID:3840329|PMID:411673|PMID:4676843|PMID:5764452|PMID:6770677|PMID:6933565|PMID:7391028|PMID:7577653|PMID:8043870|PMID:9512313|PMID:9744480 12242498 PGK1 phosphoglycerate kinase 1 gene DOID:12849 autistic disorder ISO RGD:1353723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12242498 PGK1 phosphoglycerate kinase 1 gene DOID:1838 Menkes disease ISO RGD:1353723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:28492532 12242498 PGK1 phosphoglycerate kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:1353723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 12242498 PGK1 phosphoglycerate kinase 1 gene DOID:583 hemolytic anemia ISO RGD:1353723 D RGD:9068941 20200609 RGD PMID:16740138|REF_RGD_ID:1599123 12242498 PGK1 phosphoglycerate kinase 1 gene DOID:630 genetic disease ISO RGD:1353723 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12242498 PGK1 phosphoglycerate kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1353723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12242498 PGK1 phosphoglycerate kinase 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1353723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 12242498 PGK1 phosphoglycerate kinase 1 gene DOID:9006783 Young Syndrome ISO RGD:1353723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility due to obstructive azoospermia 12242513 TMTC2 transmembrane O-mannosyltransferase targeting cadherins 2 gene DOID:0080600 COVID-19 ISO RGD:1605852 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12242513 TMTC2 transmembrane O-mannosyltransferase targeting cadherins 2 gene DOID:630 genetic disease ISO RGD:1605852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242513 TMTC2 transmembrane O-mannosyltransferase targeting cadherins 2 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss susceptibility ISO RGD:1605852 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs35725509(human) PMID:27311106|REF_RGD_ID:11252147 12242513 TMTC2 transmembrane O-mannosyltransferase targeting cadherins 2 gene DOID:9008681 Deafness ISO RGD:1605852 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27311106 12242529 MINDY1 MINDY lysine 48 deubiquitinase 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12242529 MINDY1 MINDY lysine 48 deubiquitinase 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12242529 MINDY1 MINDY lysine 48 deubiquitinase 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12242529 MINDY1 MINDY lysine 48 deubiquitinase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1603985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12242529 MINDY1 MINDY lysine 48 deubiquitinase 1 gene DOID:5812 MHC class II deficiency ISO RGD:1603985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12242529 MINDY1 MINDY lysine 48 deubiquitinase 1 gene DOID:630 genetic disease ISO RGD:1603985 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242529 MINDY1 MINDY lysine 48 deubiquitinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12242557 MICU2 mitochondrial calcium uptake 2 gene DOID:630 genetic disease ISO RGD:1353196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242573 STC1 stanniocalcin 1 gene DOID:630 genetic disease ISO RGD:730961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242573 STC1 stanniocalcin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:621776 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:15485913|REF_RGD_ID:2324700 12242581 ETFBKMT electron transfer flavoprotein subunit beta lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1602640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242594 FABP12 fatty acid binding protein 12 gene DOID:630 genetic disease ISO RGD:2302158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242603 EPHA8 EPH receptor A8 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1350663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12242603 EPHA8 EPH receptor A8 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1350663 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12242603 EPHA8 EPH receptor A8 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1350663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12242603 EPHA8 EPH receptor A8 gene DOID:630 genetic disease ISO RGD:1350663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242603 EPHA8 EPH receptor A8 gene DOID:9002189 High Myopia ISO RGD:1350663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12242603 EPHA8 EPH receptor A8 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1350663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12242625 KCNJ6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1313992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12242625 KCNJ6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1313992 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12242625 KCNJ6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:14250 Down syndrome ISO RGD:731945 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:22178330|REF_RGD_ID:6483052 12242625 KCNJ6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:1574 alcohol use disorder ISO RGD:1313992 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs2836016 (human) PMID:21307845|REF_RGD_ID:6483053 12242625 KCNJ6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:1826 epilepsy ISO RGD:1313992 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12242625 KCNJ6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:5419 schizophrenia ISO RGD:1313992 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12242625 KCNJ6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:630 genetic disease ISO RGD:1313992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12242625 KCNJ6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:9002955 Nerve Degeneration ISO RGD:1313992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15256069 12242625 KCNJ6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:9007674 Keppen-Lubinsky Syndrome ISO RGD:1313992 D RGD:7240710 20180130 OMIM 12242625 KCNJ6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:9007674 Keppen-Lubinsky Syndrome ISO RGD:1313992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keppen-Lubinsky syndrome PMID:19610118|PMID:25620207|PMID:25741868|PMID:28492532 12242625 KCNJ6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:9976 heroin dependence ISO RGD:1313992 D RGD:9068941 20200609 RGD DNA:SNP: :rs2070995 (human) PMID:20220551|REF_RGD_ID:6483055 12242637 DRD3 dopamine receptor D3 gene DOID:0050425 restless legs syndrome ISO RGD:735750 D RGD:9068941 20220825 MouseDO OMIM:102300 | OMIM:610438 | OMIM:610439 | OMIM:611185 | OMIM:611242 | OMIM:612853 | OMIM:615197 12242637 DRD3 dopamine receptor D3 gene DOID:0080855 Parkinsonism ISO RGD:2521 D RGD:9068941 20200609 RGD PMID:12535962|REF_RGD_ID:1358605 12242637 DRD3 dopamine receptor D3 gene DOID:0111428 essential tremor 1 ISO RGD:1605735 D RGD:7240710 20180130 OMIM 12242637 DRD3 dopamine receptor D3 gene DOID:0111428 essential tremor 1 ISO RGD:1605735 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Tremor, hereditary essential, 1 PMID:1362221|PMID:16650084|PMID:16809426|PMID:17339592|PMID:25741868|PMID:28492532|PMID:8225313|PMID:8411064|PMID:9514583 12242637 DRD3 dopamine receptor D3 gene DOID:10652 Alzheimer's disease ISO RGD:1605735 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex, neuron PMID:17182012|REF_RGD_ID:5686412 12242637 DRD3 dopamine receptor D3 gene DOID:10763 hypertension ISO RGD:2521 D RGD:9068941 20200609 RGD PMID:11675403|REF_RGD_ID:1580882 12242637 DRD3 dopamine receptor D3 gene DOID:10763 hypertension ISO RGD:735750 D RGD:9068941 20200609 RGD PMID:9691085|REF_RGD_ID:734898 12242637 DRD3 dopamine receptor D3 gene DOID:10914 amnestic disorder ISO RGD:2521 D RGD:9068941 20200609 RGD PMID:15619116|REF_RGD_ID:7175071 12242637 DRD3 dopamine receptor D3 gene DOID:10937 impulse control disorder ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17332411|PMID:19940168|PMID:20671181 12242637 DRD3 dopamine receptor D3 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10523822 12242637 DRD3 dopamine receptor D3 gene DOID:11832 visual epilepsy ISO RGD:2521 D RGD:9068941 20200609 RGD mRNA, increased expression:accumbens nucleus PMID:11597777|REF_RGD_ID:5686415 12242637 DRD3 dopamine receptor D3 gene DOID:12399 pathological gambling ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10523822 12242637 DRD3 dopamine receptor D3 gene DOID:12849 autistic disorder ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19058789 12242637 DRD3 dopamine receptor D3 gene DOID:12858 Huntington's disease ISO RGD:68472 D RGD:9068941 20200609 RGD PMID:12111832|REF_RGD_ID:5686414 12242637 DRD3 dopamine receptor D3 gene DOID:14330 Parkinson's disease ISO RGD:1605735 D RGD:9068941 20200609 RGD protein:increased expression:blood, lymphocyte PMID:10495037|REF_RGD_ID:5686418 12242637 DRD3 dopamine receptor D3 gene DOID:14330 Parkinson's disease severity ISO RGD:1605735 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood, lymphocyte PMID:8618685|REF_RGD_ID:5686419 12242637 DRD3 dopamine receptor D3 gene DOID:1561 cognitive disorder ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15619116 12242637 DRD3 dopamine receptor D3 gene DOID:480 movement disease ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12535962 12242637 DRD3 dopamine receptor D3 gene DOID:4990 essential tremor ISO RGD:1605735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor, susceptibility to | ClinVar Annotator: match by term: Hereditary essential tremor PMID:1362221|PMID:16650084|PMID:16809426|PMID:17339592|PMID:8225313|PMID:8411064|PMID:9514583 12242637 DRD3 dopamine receptor D3 gene DOID:4990 essential tremor treatment ISO RGD:2521 D RGD:9068941 20200609 RGD PMID:26459182|REF_RGD_ID:13506957 12242637 DRD3 dopamine receptor D3 gene DOID:5419 schizophrenia ISO RGD:1605735 D RGD:7240710 20180130 OMIM 12242637 DRD3 dopamine receptor D3 gene DOID:5419 schizophrenia ISO RGD:1605735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia, susceptibility to PMID:1362221|PMID:16650084|PMID:16809426|PMID:17339592|PMID:8225313|PMID:8411064|PMID:9514583 12242637 DRD3 dopamine receptor D3 gene DOID:5419 schizophrenia no_association ISO RGD:1605735 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:BalI polymorphism, amino acid S9G, no association with allele frequency or zygosity PMID:8225313|REF_RGD_ID:1626358 12242637 DRD3 dopamine receptor D3 gene DOID:5419 schizophrenia susceptibility ISO RGD:1605735 D RGD:9068941 20230511 RGD DNA:polymorphism:CDS:BalI polymorphism, amino acid S9G,homozygosity for either allele associated with increased risk PMID:1362221|REF_RGD_ID:1626357 12242637 DRD3 dopamine receptor D3 gene DOID:630 genetic disease ISO RGD:1605735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242637 DRD3 dopamine receptor D3 gene DOID:670 amphetamine abuse ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19940168 12242637 DRD3 dopamine receptor D3 gene DOID:679 basal ganglia disease ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19506579 12242637 DRD3 dopamine receptor D3 gene DOID:9001312 Tardive Dyskinesia ISO RGD:1605735 D RGD:9068941 20200609 RGD associated with schizophrenia PMID:12960753|REF_RGD_ID:1581250 12242637 DRD3 dopamine receptor D3 gene DOID:9002211 Hyperalgesia ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20433900 12242637 DRD3 dopamine receptor D3 gene DOID:9002362 Hyperkinesis ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16026479 12242637 DRD3 dopamine receptor D3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10523822|PMID:15100700|PMID:17332411|PMID:18566292|PMID:20494958 12242637 DRD3 dopamine receptor D3 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2521 D RGD:9068941 20200609 RGD PMID:25989500|REF_RGD_ID:13506961 12242637 DRD3 dopamine receptor D3 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20945430 12242637 DRD3 dopamine receptor D3 gene DOID:9008967 Brain Concussion ISO RGD:2521 D RGD:9068941 20200609 RGD PMID:26448536|REF_RGD_ID:13506960 12242637 DRD3 dopamine receptor D3 gene DOID:9976 heroin dependence ISO RGD:2521 D RGD:9068941 20200609 RGD PMID:28598964|REF_RGD_ID:13506959 12242655 BOLL boule homolog, RNA binding protein gene DOID:630 genetic disease ISO RGD:1352689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242655 BOLL boule homolog, RNA binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12242655 BOLL boule homolog, RNA binding protein gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352689 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 12242677 CLNK cytokine dependent hematopoietic cell linker gene DOID:12306 vitiligo ISO RGD:1605010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 12242677 CLNK cytokine dependent hematopoietic cell linker gene DOID:630 genetic disease ISO RGD:1605010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242700 SLC7A6 solute carrier family 7 member 6 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1319397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12242700 SLC7A6 solute carrier family 7 member 6 gene DOID:630 genetic disease ISO RGD:1319397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242730 ITPK1 inositol-tetrakisphosphate 1-kinase gene DOID:0080054 achondrogenesis type IA ISO RGD:1312967 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12242730 ITPK1 inositol-tetrakisphosphate 1-kinase gene DOID:630 genetic disease ISO RGD:1312967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242730 ITPK1 inositol-tetrakisphosphate 1-kinase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1312967 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 12242752 CAPZA2 capping actin protein of muscle Z-line subunit alpha 2 gene DOID:0080600 COVID-19 ISO RGD:1350794 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12242752 CAPZA2 capping actin protein of muscle Z-line subunit alpha 2 gene DOID:1059 intellectual disability ISO RGD:1350794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:32338762 12242752 CAPZA2 capping actin protein of muscle Z-line subunit alpha 2 gene DOID:4450 renal cell carcinoma ISO RGD:1350794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:28492532 12242752 CAPZA2 capping actin protein of muscle Z-line subunit alpha 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12242752 CAPZA2 capping actin protein of muscle Z-line subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1350794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242752 CAPZA2 capping actin protein of muscle Z-line subunit alpha 2 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1350794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:28492532 12242767 DTWD2 DTW domain containing 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604482 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12242767 DTWD2 DTW domain containing 2 gene DOID:630 genetic disease ISO RGD:1604482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242767 DTWD2 DTW domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12242767 DTWD2 DTW domain containing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604482 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12242778 GPR62 G protein-coupled receptor 62 gene DOID:630 genetic disease ISO RGD:1351718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242783 PLEKHB1 pleckstrin homology domain containing B1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1343334 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12242783 PLEKHB1 pleckstrin homology domain containing B1 gene DOID:1059 intellectual disability ISO RGD:1343334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12242783 PLEKHB1 pleckstrin homology domain containing B1 gene DOID:630 genetic disease ISO RGD:1343334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242783 PLEKHB1 pleckstrin homology domain containing B1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12242808 CSPG5 chondroitin sulfate proteoglycan 5 gene DOID:630 genetic disease ISO RGD:733098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242808 CSPG5 chondroitin sulfate proteoglycan 5 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:733098 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12242815 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1607015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:28317099|PMID:31230720 12242815 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 ISO RGD:1607015 D RGD:7240710 20200805 OMIM 12242815 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 ISO RGD:1607015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 2, neurogenic type PMID:28317099|PMID:5491443 12242815 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1607015 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 12242815 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:10908 hydrocephalus ISO RGD:1607015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 12242815 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:630 genetic disease ISO RGD:1607015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12242815 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:9006836 Contracture ISO RGD:1607015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 12242815 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:1607015 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 12242869 LOC102151856 ATP synthase subunit f, mitochondrial gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12242883 TRIM32 tripartite motif containing 32 gene DOID:0110133 Bardet-Biedl syndrome 11 ISO RGD:1313150 D RGD:7240710 20180130 OMIM 12242883 TRIM32 tripartite motif containing 32 gene DOID:0110133 Bardet-Biedl syndrome 11 ISO RGD:1313150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 11 PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:16606853|PMID:17994549|PMID:19349376|PMID:21775502|PMID:22025579|PMID:22981120|PMID:23142638|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29921608|PMID:31624253|PMID:33296226|PMID:4269389 12242883 TRIM32 tripartite motif containing 32 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1313150 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:23541687|PMID:25351777|PMID:25741868|PMID:28492532 12242883 TRIM32 tripartite motif containing 32 gene DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H ISO RGD:1313150 D RGD:7240710 20180130 OMIM 12242883 TRIM32 tripartite motif containing 32 gene DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H ISO RGD:1313150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sarcotubular myopathy PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:17994549|PMID:19349376|PMID:21775502|PMID:22025579|PMID:22981120|PMID:23142638|PMID:23541687|PMID:24033266|PMID:25351777|PMID:25741868|PMID:26467025|PMID:27491411|PMID:28492532|PMID:29921608|PMID:30823891|PMID:31624253|PMID:32419263|PMID:32528171|PMID:33296226|PMID:4269389 12242883 TRIM32 tripartite motif containing 32 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1313150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:24033266 12242883 TRIM32 tripartite motif containing 32 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:16606853|PMID:17994549|PMID:19349376|PMID:21775502|PMID:22025579|PMID:22981120|PMID:23142638|PMID:23541687|PMID:24033266|PMID:25351777|PMID:25741868|PMID:26467025|PMID:27491411|PMID:28492532|PMID:28812413|PMID:29921608|PMID:30564623|PMID:30823891|PMID:31624253|PMID:32419263|PMID:32528171|PMID:33296226|PMID:4269389 12242883 TRIM32 tripartite motif containing 32 gene DOID:1935 Bardet-Biedl syndrome susceptibility ISO RGD:1313150 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.P130S PMID:16606853|REF_RGD_ID:1624129 12242883 TRIM32 tripartite motif containing 32 gene DOID:423 myopathy ISO RGD:1313150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:17994549|PMID:19349376|PMID:21775502|PMID:22981120|PMID:23142638|PMID:25741868|PMID:28492532|PMID:4269389 12242883 TRIM32 tripartite motif containing 32 gene DOID:5419 schizophrenia ISO RGD:1313150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12242883 TRIM32 tripartite motif containing 32 gene DOID:630 genetic disease ISO RGD:1313150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12242883 TRIM32 tripartite motif containing 32 gene DOID:9884 muscular dystrophy susceptibility ISO RGD:1313150 D RGD:9068941 20200609 RGD Limb-girdle muscular dystrophy type 2H, OMIM:254110;DNA:missense mutation:exon:p.D487N PMID:11822024|REF_RGD_ID:1624127 12243013 FGF7 fibroblast growth factor 7 gene DOID:10283 prostate cancer ISO RGD:69203 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland stroma, hormone insensitive tumors PMID:9285567|REF_RGD_ID:2289086 12243013 FGF7 fibroblast growth factor 7 gene DOID:11132 prostatic hypertrophy ISO RGD:62097 D RGD:9068941 20200609 RGD PMID:9000125|REF_RGD_ID:2301094 12243013 FGF7 fibroblast growth factor 7 gene DOID:11132 prostatic hypertrophy ISO RGD:69203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14999240 12243013 FGF7 fibroblast growth factor 7 gene DOID:11132 prostatic hypertrophy ISO RGD:69203 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate PMID:11482780|REF_RGD_ID:2289085 12243013 FGF7 fibroblast growth factor 7 gene DOID:11132 prostatic hypertrophy no_association ISO RGD:69203 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:9285567|REF_RGD_ID:2289086 12243013 FGF7 fibroblast growth factor 7 gene DOID:127 leiomyoma ISO RGD:69203 D RGD:9068941 20200609 RGD PMID:18566572|REF_RGD_ID:2301090 12243013 FGF7 fibroblast growth factor 7 gene DOID:1749 squamous cell carcinoma ISO RGD:69203 D RGD:9068941 20200609 RGD cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells PMID:17306351|REF_RGD_ID:2289084 12243013 FGF7 fibroblast growth factor 7 gene DOID:2394 ovarian cancer ISO RGD:69203 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:11000522|REF_RGD_ID:2289080 12243013 FGF7 fibroblast growth factor 7 gene DOID:2717 Bloom syndrome ISO RGD:69203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12243013 FGF7 fibroblast growth factor 7 gene DOID:2871 endometrial carcinoma ISO RGD:69203 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium PMID:9070494|REF_RGD_ID:2301091 12243013 FGF7 fibroblast growth factor 7 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:69203 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 12243013 FGF7 fibroblast growth factor 7 gene DOID:3744 cervical squamous cell carcinoma ISO RGD:69203 D RGD:9068941 20200609 RGD cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells PMID:17306351|REF_RGD_ID:2289084 12243013 FGF7 fibroblast growth factor 7 gene DOID:3770 pulmonary fibrosis ISO RGD:69203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15677771 12243013 FGF7 fibroblast growth factor 7 gene DOID:5082 liver cirrhosis ISO RGD:69203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17692400 12243013 FGF7 fibroblast growth factor 7 gene DOID:630 genetic disease ISO RGD:69203 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243013 FGF7 fibroblast growth factor 7 gene DOID:674 cleft palate ISO RGD:69203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 12243013 FGF7 fibroblast growth factor 7 gene DOID:8577 ulcerative colitis ISO RGD:69203 D RGD:9068941 20210604 RGD mRNA:increased expression:colon, lamina propria, myofibroblasts (human) PMID:9358773|REF_RGD_ID:126928145 12243013 FGF7 fibroblast growth factor 7 gene DOID:8778 Crohn's disease ISO RGD:69203 D RGD:9068941 20210604 RGD mRNA:increased expression:colon, ileum, myofibroblasts (human) PMID:9358773|REF_RGD_ID:126928145 12243013 FGF7 fibroblast growth factor 7 gene DOID:9000099 Experimental Colitis treatment ISO RGD:69203 D RGD:9068941 20210528 RGD human protein in mouse model PMID:10219846|REF_RGD_ID:126928136 12243013 FGF7 fibroblast growth factor 7 gene DOID:9000310 Lung Injury ISO RGD:69203 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18385170 12243013 FGF7 fibroblast growth factor 7 gene DOID:9002221 Hyperplasia ISO RGD:62097 D RGD:9068941 20210604 RGD mRNA:increased expression:distal colon (mouse) PMID:10338516|REF_RGD_ID:126928149 12243013 FGF7 fibroblast growth factor 7 gene DOID:9003281 Spontaneous Abortions ISO RGD:69203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12243013 FGF7 fibroblast growth factor 7 gene DOID:9003491 Enterobacteriaceae Infections ISO RGD:62097 D RGD:9068941 20210604 RGD mRNA:increased expression:distal colon (mouse) PMID:10338516|REF_RGD_ID:126928149 12243013 FGF7 fibroblast growth factor 7 gene DOID:9004009 Reperfusion Injury ISO RGD:69203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 12243013 FGF7 fibroblast growth factor 7 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:62097 D RGD:9068941 20200609 RGD PMID:9000125|REF_RGD_ID:2301094 12243013 FGF7 fibroblast growth factor 7 gene DOID:9006010 Gingival Hyperplasia ISO RGD:69203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11023675 12243013 FGF7 fibroblast growth factor 7 gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:69203 D RGD:9068941 20210528 RGD human protein in rat model PMID:11076810|REF_RGD_ID:126928130 12243013 FGF7 fibroblast growth factor 7 gene DOID:9256 colorectal cancer ISO RGD:69203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12243013 FGF7 fibroblast growth factor 7 gene DOID:9296 cleft lip ISO RGD:69203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 12243026 TMEM30A transmembrane protein 30A gene DOID:630 genetic disease ISO RGD:1345323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243038 SERPING1 serpin family G member 1 gene DOID:0080162 lupus nephritis ISO RGD:1344082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4014294 12243038 SERPING1 serpin family G member 1 gene DOID:0080600 COVID-19 severity ISO RGD:1344082 D RGD:9068941 20200813 RGD DNA:SNP: : PMID:32747830|REF_RGD_ID:38500238 12243038 SERPING1 serpin family G member 1 gene DOID:0080939 hereditary angioedema type I ISO RGD:1344082 D RGD:7240710 20180418 OMIM 12243038 SERPING1 serpin family G member 1 gene DOID:0080939 hereditary angioedema type I ISO RGD:1344082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary C1 esterase inhibitor deficiency - dysfunctional factor | ClinVar Annotator: match by term: Hereditary angioedema type 1 | ClinVar Annotator: match by term: Hereditary angioedema with C1Inh deficiency PMID:12402344|PMID:1339401|PMID:1363816|PMID:1451784|PMID:16813612|PMID:1684567|PMID:17137866|PMID:17576681|PMID:18586324|PMID:18758157|PMID:1885769|PMID:20804470|PMID:20864152|PMID:21832835|PMID:22129507|PMID:2296585|PMID:22994404|PMID:23437219|PMID:2365061|PMID:24033266|PMID:25258140|PMID:2563376|PMID:25741868|PMID:26812872|PMID:2723063|PMID:28194776|PMID:28359783|PMID:28492532|PMID:2890659|PMID:29343682|PMID:29753808|PMID:30398465|PMID:30508583|PMID:30847342|PMID:3178731|PMID:31959500|PMID:31982983|PMID:32065705|PMID:33034800|PMID:3587308|PMID:8396558|PMID:8755917|PMID:9536098 12243038 SERPING1 serpin family G member 1 gene DOID:0080941 acquired angioedema ISO RGD:1344082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:23406939|PMID:9734886 12243038 SERPING1 serpin family G member 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:735225 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:10360224|REF_RGD_ID:8661651 12243038 SERPING1 serpin family G member 1 gene DOID:1059 intellectual disability ISO RGD:1344082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12243038 SERPING1 serpin family G member 1 gene DOID:14115 toxic shock syndrome treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:8172580|REF_RGD_ID:8661646 12243038 SERPING1 serpin family G member 1 gene DOID:14735 hereditary angioedema ISO RGD:1344082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary angioneurotic edema 12243038 SERPING1 serpin family G member 1 gene DOID:14735 hereditary angioedema treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:22800873|REF_RGD_ID:8661265 12243038 SERPING1 serpin family G member 1 gene DOID:1558 angioedema ISO RGD:1344082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angioedema 12243038 SERPING1 serpin family G member 1 gene DOID:1558 angioedema susceptibility ISO RGD:1344082 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:12402344|REF_RGD_ID:1600545 12243038 SERPING1 serpin family G member 1 gene DOID:3068 glioblastoma treatment ISO RGD:735225 D RGD:9068941 20200609 RGD PMID:28880870|REF_RGD_ID:13525003 12243038 SERPING1 serpin family G member 1 gene DOID:3526 cerebral infarction treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD associated with Venous Thrombosis PMID:10446335|REF_RGD_ID:8661653 12243038 SERPING1 serpin family G member 1 gene DOID:4448 macular degeneration ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:21852020|REF_RGD_ID:8661263 12243038 SERPING1 serpin family G member 1 gene DOID:4448 macular degeneration ISO RGD:1344082 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron:c.1030-865C>T (rs2511989) (human) PMID:20576771|REF_RGD_ID:8661638 12243038 SERPING1 serpin family G member 1 gene DOID:4448 macular degeneration no_association ISO RGD:1344082 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron:c.1030-865C>T (rs2511989) (human) PMID:21526158|REF_RGD_ID:8661639 12243038 SERPING1 serpin family G member 1 gene DOID:4448 macular degeneration no_association ISO RGD:1344082 D RGD:9068941 20200609 RGD DNA:SNP:intron:c.1029+312T>C (rs11603020) (human) PMID:20606025|REF_RGD_ID:8661640 12243038 SERPING1 serpin family G member 1 gene DOID:4448 macular degeneration no_association ISO RGD:1344082 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:19169411|REF_RGD_ID:8661264 12243038 SERPING1 serpin family G member 1 gene DOID:4448 macular degeneration susceptibility ISO RGD:1344082 D RGD:9068941 20200609 RGD DNA:SNPs:introns:c.52-130C>T, c.1030-865C>T (rs1005510, rs2511989) (human) PMID:20606025|REF_RGD_ID:8661640 12243038 SERPING1 serpin family G member 1 gene DOID:4989 pancreatitis treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:9176084|REF_RGD_ID:8661649 12243038 SERPING1 serpin family G member 1 gene DOID:5082 liver cirrhosis ISO RGD:1344082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 12243038 SERPING1 serpin family G member 1 gene DOID:630 genetic disease ISO RGD:1344082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12402344|PMID:1451784|PMID:14635117|PMID:15971231|PMID:16470590|PMID:17576681|PMID:18586324|PMID:18758157|PMID:21864911|PMID:22994404|PMID:23123409|PMID:23437219|PMID:2365061|PMID:24033266|PMID:24456027|PMID:25258140|PMID:2563376|PMID:25741868|PMID:26535898|PMID:28492532|PMID:29753808|PMID:3178731|PMID:3756141|PMID:8125476|PMID:9536098 12243038 SERPING1 serpin family G member 1 gene DOID:898 autosomal dominant polycystic kidney disease disease_progression ISO RGD:1344082 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:24494798|REF_RGD_ID:8661641 12243038 SERPING1 serpin family G member 1 gene DOID:9000113 Pneumococcal Meningitis treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:17538891|REF_RGD_ID:8661645 12243038 SERPING1 serpin family G member 1 gene DOID:9000728 Traumatic Shock treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:9377162|REF_RGD_ID:8661648 12243038 SERPING1 serpin family G member 1 gene DOID:9001488 Human Influenza ISO RGD:1344082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12243038 SERPING1 serpin family G member 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:16367929|REF_RGD_ID:1580273 12243038 SERPING1 serpin family G member 1 gene DOID:9002625 Complement Component 4, Partial Deficiency Of ISO RGD:1344082 D RGD:7240710 20180130 OMIM 12243038 SERPING1 serpin family G member 1 gene DOID:9002625 Complement Component 4, Partial Deficiency Of ISO RGD:1344082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor PMID:7883978 12243038 SERPING1 serpin family G member 1 gene DOID:9003104 Intracranial Hemorrhages treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD associated with Stroke PMID:21779364|REF_RGD_ID:6484131 12243038 SERPING1 serpin family G member 1 gene DOID:9004009 Reperfusion Injury treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:23991040|REF_RGD_ID:8661644 12243038 SERPING1 serpin family G member 1 gene DOID:9004347 Skeletal Muscle Reperfusion Injury treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:24585935|PMID:29395422|REF_RGD_ID:13525001|REF_RGD_ID:13542089 12243038 SERPING1 serpin family G member 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:11685347|REF_RGD_ID:8661650 12243038 SERPING1 serpin family G member 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1344082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12243038 SERPING1 serpin family G member 1 gene DOID:9005372 Inflammation treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:27153875|REF_RGD_ID:13525005 12243038 SERPING1 serpin family G member 1 gene DOID:9005930 Endotoxemia treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:18652771|REF_RGD_ID:8661643 12243038 SERPING1 serpin family G member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12243038 SERPING1 serpin family G member 1 gene DOID:9007730 Burns treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:22447201|REF_RGD_ID:6903314 12243038 SERPING1 serpin family G member 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:16942749|REF_RGD_ID:8661647 12243038 SERPING1 serpin family G member 1 gene DOID:9408 acute myocardial infarction ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:26476955|REF_RGD_ID:11552746 12243038 SERPING1 serpin family G member 1 gene DOID:9408 acute myocardial infarction ISO RGD:735225 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:26476955|REF_RGD_ID:11552746 12243048 M6PR mannose-6-phosphate receptor, cation dependent gene DOID:4450 renal cell carcinoma ISO RGD:1354089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 12243048 M6PR mannose-6-phosphate receptor, cation dependent gene DOID:630 genetic disease ISO RGD:1354089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243048 M6PR mannose-6-phosphate receptor, cation dependent gene DOID:9000217 Stomach Neoplasms ISO RGD:1354089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12243048 M6PR mannose-6-phosphate receptor, cation dependent gene DOID:9000918 Disease Progression ISO RGD:1354089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12243048 M6PR mannose-6-phosphate receptor, cation dependent gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12243048 M6PR mannose-6-phosphate receptor, cation dependent gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1354089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12243062 ABL2 ABL proto-oncogene 2, non-receptor tyrosine kinase gene DOID:1540 parathyroid carcinoma ISO RGD:1352263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12243062 ABL2 ABL proto-oncogene 2, non-receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1352263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23707396|PMID:23842646 12243062 ABL2 ABL proto-oncogene 2, non-receptor tyrosine kinase gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1352263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12243062 ABL2 ABL proto-oncogene 2, non-receptor tyrosine kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12243083 SPMIP3 sperm associated microtubule inner protein 3 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1603542 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12243083 SPMIP3 sperm associated microtubule inner protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1603542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12243083 SPMIP3 sperm associated microtubule inner protein 3 gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:1603542 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 PMID:25087610 12243083 SPMIP3 sperm associated microtubule inner protein 3 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1603542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 12243083 SPMIP3 sperm associated microtubule inner protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12243092 SLC39A4 solute carrier family 39 member 4 gene DOID:0050605 acrodermatitis enteropathica ISO RGD:1315470 D RGD:7240710 20180130 OMIM 12243092 SLC39A4 solute carrier family 39 member 4 gene DOID:0050605 acrodermatitis enteropathica ISO RGD:1315470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica PMID:11035780|PMID:11254458|PMID:12032886|PMID:12068297|PMID:12787121|PMID:12955721|PMID:14709598|PMID:16199547|PMID:19370757|PMID:20981092|PMID:21165302|PMID:21762381|PMID:24033266|PMID:25741868|PMID:26351177|PMID:28492532|PMID:31979155|PMID:33837739 12243092 SLC39A4 solute carrier family 39 member 4 gene DOID:0060496 respiratory allergy ISO RGD:1315470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085522 12243092 SLC39A4 solute carrier family 39 member 4 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1315470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12243092 SLC39A4 solute carrier family 39 member 4 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1315470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12243092 SLC39A4 solute carrier family 39 member 4 gene DOID:2722 acrodermatitis ISO RGD:1315470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16714095|PMID:16819703|PMID:16889938|PMID:17190629|PMID:17202136 12243092 SLC39A4 solute carrier family 39 member 4 gene DOID:4621 holoprosencephaly ISO RGD:1315470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12243092 SLC39A4 solute carrier family 39 member 4 gene DOID:630 genetic disease ISO RGD:1315470 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12032886|PMID:12955721|PMID:16199547|PMID:21762381|PMID:25741868|PMID:28492532 12243092 SLC39A4 solute carrier family 39 member 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20957146 12243092 SLC39A4 solute carrier family 39 member 4 gene DOID:9007023 Prenatal Injuries ISO RGD:1315470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17483098 12243107 RNF213 ring finger protein 213 gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1351712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:28492532 12243107 RNF213 ring finger protein 213 gene DOID:13099 Moyamoya disease ISO RGD:1351712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Moyamoya disease PMID:33568546 12243107 RNF213 ring finger protein 213 gene DOID:13620 patent foramen ovale ISO RGD:1351712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Patent foramen ovale PMID:25741868 12243107 RNF213 ring finger protein 213 gene DOID:1826 epilepsy ISO RGD:1351712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure 12243107 RNF213 ring finger protein 213 gene DOID:5889 anaplastic ependymoma ISO RGD:1351712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anaplastic ependymoma PMID:26822237 12243107 RNF213 ring finger protein 213 gene DOID:630 genetic disease ISO RGD:1351712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243107 RNF213 ring finger protein 213 gene DOID:9007096 Stroke ISO RGD:1351712 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25278557|PMID:25741868|PMID:28492532 12243107 RNF213 ring finger protein 213 gene DOID:9007536 Moyamoya Disease 2 ISO RGD:1351712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Moyamoya disease 2 PMID:21048783|PMID:21799892|PMID:22377813|PMID:22931863|PMID:23110205|PMID:25278557|PMID:25741868|PMID:25956231|PMID:26126547|PMID:26530418|PMID:27515544|PMID:27736983|PMID:28492532|PMID:29483232|PMID:31474762 12243107 RNF213 ring finger protein 213 gene DOID:9007536 Moyamoya Disease 2 susceptibility ISO RGD:1351712 D RGD:7240710 20190502 OMIM 12243107 RNF213 ring finger protein 213 gene DOID:9007908 Aortic Coarctation ISO RGD:1351712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Midaortic syndrome PMID:29483232 12243107 RNF213 ring finger protein 213 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1351712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 12243170 MAML2 mastermind like transcriptional coactivator 2 gene DOID:1059 intellectual disability ISO RGD:1313593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12243170 MAML2 mastermind like transcriptional coactivator 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1313593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12243170 MAML2 mastermind like transcriptional coactivator 2 gene DOID:630 genetic disease ISO RGD:1313593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243170 MAML2 mastermind like transcriptional coactivator 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1313593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12243179 CTSB cathepsin B gene DOID:0060180 colitis ISO RGD:1558619 D RGD:9068941 20200609 RGD protein:increased activity:cecum, colon, spinal cord PMID:21802389|REF_RGD_ID:5686873 12243179 CTSB cathepsin B gene DOID:0080000 muscular disease ISO RGD:734437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7099197 12243179 CTSB cathepsin B gene DOID:0080322 polycystic kidney disease ISO RGD:621509 D RGD:9068941 20200609 RGD protein:increased expression:kidney proximal tubule PMID:8840269|REF_RGD_ID:5686402 12243179 CTSB cathepsin B gene DOID:0080600 COVID-19 ISO RGD:734437 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12243179 CTSB cathepsin B gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:621509 D RGD:9068941 20200609 RGD protein:increased activity:pancreas (rat) PMID:17723883|REF_RGD_ID:2315517 12243179 CTSB cathepsin B gene DOID:10754 otitis media ISO RGD:621509 D RGD:9068941 20200609 RGD mRNA:increased expression:middle ear mucosa (rat) PMID:15179208|REF_RGD_ID:1342442 12243179 CTSB cathepsin B gene DOID:10941 intracranial aneurysm ISO RGD:621509 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:Circle of Willis (rat) PMID:18635848|REF_RGD_ID:2306495 12243179 CTSB cathepsin B gene DOID:10941 intracranial aneurysm ISO RGD:734437 D RGD:9068941 20200609 RGD protein:increased expression:cerebral aneurysm (human) PMID:18635848|REF_RGD_ID:2306495 12243179 CTSB cathepsin B gene DOID:11054 urinary bladder cancer ISO RGD:734437 D RGD:9068941 20200609 RGD protein:increased activity:transitional cell carcinoma (human) PMID:15183956|REF_RGD_ID:2315615 12243179 CTSB cathepsin B gene DOID:12842 Guillain-Barre syndrome ISO RGD:734437 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:11134381|REF_RGD_ID:5686395 12243179 CTSB cathepsin B gene DOID:14004 thoracic aortic aneurysm ISO RGD:734437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 12243179 CTSB cathepsin B gene DOID:14219 renal tubular acidosis ISO RGD:621509 D RGD:9068941 20200609 RGD protein:decreased activity:renal proximal tubule (rat) PMID:7873730|REF_RGD_ID:2315534 12243179 CTSB cathepsin B gene DOID:1612 breast cancer ISO RGD:734437 D RGD:9068941 20200609 RGD protein:increased expression:breast carcinoma, cytosol (human) PMID:9508185|REF_RGD_ID:2315523 12243179 CTSB cathepsin B gene DOID:1936 atherosclerosis ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:12213722|REF_RGD_ID:5687152 12243179 CTSB cathepsin B gene DOID:2316 brain ischemia ISO RGD:621509 D RGD:9068941 20200609 RGD protein:increased activity:cerebrum (rat) PMID:18404379|REF_RGD_ID:2315571 12243179 CTSB cathepsin B gene DOID:2377 multiple sclerosis ISO RGD:1558619 D RGD:9068941 20200609 RGD PMID:17086443|REF_RGD_ID:5686392 12243179 CTSB cathepsin B gene DOID:2377 multiple sclerosis ISO RGD:734437 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:11134381|REF_RGD_ID:5686395 12243179 CTSB cathepsin B gene DOID:2671 transitional cell carcinoma ISO RGD:734437 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:15183956|REF_RGD_ID:2315615 12243179 CTSB cathepsin B gene DOID:3068 glioblastoma ISO RGD:734437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22287159 12243179 CTSB cathepsin B gene DOID:3068 glioblastoma ISO RGD:734437 D RGD:9068941 20200609 RGD protein:increased expression:glioma cell (human) PMID:17898873|REF_RGD_ID:2315515 12243179 CTSB cathepsin B gene DOID:3070 high grade glioma ISO RGD:621509 D RGD:9068941 20200609 RGD PMID:17287256|REF_RGD_ID:2315520 12243179 CTSB cathepsin B gene DOID:3454 brain infarction ISO RGD:621509 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortical segment, cytoplasm (rat) PMID:19941836|REF_RGD_ID:2315502 12243179 CTSB cathepsin B gene DOID:4450 renal cell carcinoma ISO RGD:734437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 12243179 CTSB cathepsin B gene DOID:4914 esophagus adenocarcinoma ISO RGD:734437 D RGD:9068941 20200609 RGD PMID:9770500|REF_RGD_ID:734853 12243179 CTSB cathepsin B gene DOID:576 proteinuria ISO RGD:734437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3669494 12243179 CTSB cathepsin B gene DOID:5844 myocardial infarction ISO RGD:621509 D RGD:9068941 20200609 RGD protein:increased activity:serum, heart (rat) PMID:19958779|REF_RGD_ID:2315501 12243179 CTSB cathepsin B gene DOID:630 genetic disease ISO RGD:734437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12243179 CTSB cathepsin B gene DOID:684 hepatocellular carcinoma ISO RGD:621509 D RGD:9068941 20200609 RGD PMID:15641152|REF_RGD_ID:2315605 12243179 CTSB cathepsin B gene DOID:885 fascioliasis ISO RGD:621509 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:19696938|REF_RGD_ID:2315504 12243179 CTSB cathepsin B gene DOID:9000918 Disease Progression ISO RGD:734437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22287159 12243179 CTSB cathepsin B gene DOID:9000965 Neoplasm Metastasis ISO RGD:734437 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:12589965|REF_RGD_ID:5686394 12243179 CTSB cathepsin B gene DOID:9001542 Albuminuria ISO RGD:621509 D RGD:9068941 20200609 RGD associated with Hypertension PMID:19023196|REF_RGD_ID:2315726 12243179 CTSB cathepsin B gene DOID:9002304 Prostatic Neoplasms ISO RGD:734437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19503093 12243179 CTSB cathepsin B gene DOID:9002457 Experimental Arthritis ISO RGD:621509 D RGD:9068941 20200609 RGD mRNA:increased expression:knee joint, synovium (rat) PMID:17195213|REF_RGD_ID:2315521 12243179 CTSB cathepsin B gene DOID:9003833 Keratolytic Winter Erythema ISO RGD:734437 D RGD:7240710 20190315 OMIM 12243179 CTSB cathepsin B gene DOID:9003833 Keratolytic Winter Erythema ISO RGD:734437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratolytic winter erythema PMID:25741868|PMID:28492532 12243179 CTSB cathepsin B gene DOID:9004009 Reperfusion Injury ISO RGD:621509 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, mitochondrion (rat) PMID:18938146|REF_RGD_ID:2315506 12243179 CTSB cathepsin B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12243179 CTSB cathepsin B gene DOID:9004575 Neoplasm Invasiveness ISO RGD:734437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19700239|PMID:19747051 12243179 CTSB cathepsin B gene DOID:9004871 Mercury Poisoning, Nervous System ISO RGD:621509 D RGD:9068941 20200609 RGD PMID:18638529|REF_RGD_ID:2315510 12243179 CTSB cathepsin B gene DOID:9005166 Contusions ISO RGD:621509 D RGD:9068941 20211224 RGD mRNA, protein:increased expression, increased activity:gastrocnemius (rat) PMID:11788364|REF_RGD_ID:631244 12243179 CTSB cathepsin B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621509 D RGD:9068941 20200609 RGD protein:decreased activity:glomerulus (rat) PMID:10393385|REF_RGD_ID:2315531 12243179 CTSB cathepsin B gene DOID:9005749 Necrosis ISO RGD:734437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22287159 12243179 CTSB cathepsin B gene DOID:9006487 Reoviridae Infections ISO RGD:1558619 D RGD:9068941 20200609 RGD PMID:19640986|REF_RGD_ID:5686877 12243179 CTSB cathepsin B gene DOID:9006684 Inflammatory Breast Neoplasms ISO RGD:734437 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32512068 12243179 CTSB cathepsin B gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:621509 D RGD:9068941 20200609 RGD protein:increased activity:liver, cytosol (rat) PMID:17850215|REF_RGD_ID:2315516 12243179 CTSB cathepsin B gene DOID:9007732 Squalene Synthase Deficiency ISO RGD:734437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squalene synthase deficiency PMID:25741868|PMID:29909962 12243179 CTSB cathepsin B gene DOID:9008091 Optic Nerve Injuries ISO RGD:621509 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:18775855|REF_RGD_ID:2315508 12243179 CTSB cathepsin B gene DOID:9008444 Skeletal Muscle Injuries ISO RGD:621509 D RGD:9068941 20211217 RGD protein:increased activity:gastrocnemius (rat) PMID:11788364|REF_RGD_ID:631244 12243179 CTSB cathepsin B gene DOID:9351 diabetes mellitus onset ISO RGD:734437 D RGD:9068941 20200609 RGD DNA:transversion:cds:p.L26V (human) PMID:18706099|REF_RGD_ID:2315528 12243179 CTSB cathepsin B gene DOID:9352 type 2 diabetes mellitus ISO RGD:734437 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet (human) PMID:19367387|REF_RGD_ID:2315527 12243179 CTSB cathepsin B gene DOID:9452 fatty liver disease ISO RGD:621509 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:liver, cytosol (rat) PMID:18452148|REF_RGD_ID:2315513 12243179 CTSB cathepsin B gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1558619 D RGD:9068941 20200609 RGD PMID:19664906|REF_RGD_ID:2315524 12243192 LHPP phospholysine phosphohistidine inorganic pyrophosphate phosphatase gene DOID:630 genetic disease ISO RGD:1606248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243206 FBXO44 F-box protein 44 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12243206 FBXO44 F-box protein 44 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606989 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12243206 FBXO44 F-box protein 44 gene DOID:11612 polycystic ovary syndrome ISO RGD:1606989 D RGD:9068941 20211217 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12243206 FBXO44 F-box protein 44 gene DOID:630 genetic disease ISO RGD:1606989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243206 FBXO44 F-box protein 44 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606989 D RGD:9068941 20211217 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12243206 FBXO44 F-box protein 44 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1606989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 12243215 FBXO40 F-box protein 40 gene DOID:12849 autistic disorder ISO RGD:1320304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19404257 12243215 FBXO40 F-box protein 40 gene DOID:630 genetic disease ISO RGD:1320304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243215 FBXO40 F-box protein 40 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1320304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12243215 FBXO40 F-box protein 40 gene DOID:9270 alkaptonuria ISO RGD:1320304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12243224 SLC25A25 solute carrier family 25 member 25 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12243224 SLC25A25 solute carrier family 25 member 25 gene DOID:0060041 autism spectrum disorder ISO RGD:1351086 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12243224 SLC25A25 solute carrier family 25 member 25 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1351086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12243224 SLC25A25 solute carrier family 25 member 25 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1351086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12243224 SLC25A25 solute carrier family 25 member 25 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1351086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 12243224 SLC25A25 solute carrier family 25 member 25 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12243224 SLC25A25 solute carrier family 25 member 25 gene DOID:585 nephrolithiasis ISO RGD:1351086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrolithiasis 12243224 SLC25A25 solute carrier family 25 member 25 gene DOID:630 genetic disease ISO RGD:1351086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243224 SLC25A25 solute carrier family 25 member 25 gene DOID:9002189 High Myopia ISO RGD:1351086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12243256 GALNT6 polypeptide N-acetylgalactosaminyltransferase 6 gene DOID:630 genetic disease ISO RGD:1321517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243273 PTPN23 protein tyrosine phosphatase non-receptor type 23 gene DOID:630 genetic disease ISO RGD:1348801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31395947 12243273 PTPN23 protein tyrosine phosphatase non-receptor type 23 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1348801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12243273 PTPN23 protein tyrosine phosphatase non-receptor type 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12243273 PTPN23 protein tyrosine phosphatase non-receptor type 23 gene DOID:9005433 NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY ISO RGD:1348801 D RGD:7240710 20200812 OMIM 12243273 PTPN23 protein tyrosine phosphatase non-receptor type 23 gene DOID:9005433 NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY ISO RGD:1348801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity PMID:25558065|PMID:25741868|PMID:27848944|PMID:28492532|PMID:29090338|PMID:29899372|PMID:31395947 12243273 PTPN23 protein tyrosine phosphatase non-receptor type 23 gene DOID:9008051 Luscan-Lumish Syndrome ISO RGD:1348801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Luscan-Lumish syndrome PMID:28492532 12243273 PTPN23 protein tyrosine phosphatase non-receptor type 23 gene DOID:9008086 Developmental Disabilities ISO RGD:1348801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:25741868|PMID:28492532|PMID:31395947 12243299 FSTL3 follistatin like 3 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1348302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 12243299 FSTL3 follistatin like 3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1348302 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12243299 FSTL3 follistatin like 3 gene DOID:630 genetic disease ISO RGD:1348302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243317 DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0060336 3-methylglutaconic aciduria ISO RGD:1603908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria PMID:25741868 12243317 DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0110000 3-methylglutaconic aciduria type 5 ISO RGD:1603908 D RGD:7240710 20180130 OMIM 12243317 DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0110000 3-methylglutaconic aciduria type 5 ISO RGD:1603908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 PMID:16055927|PMID:16199547|PMID:17576681|PMID:22797137|PMID:22981120|PMID:25741868|PMID:27426421|PMID:27928778|PMID:28492532|PMID:29625556|PMID:34008892|PMID:9536098 12243317 DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0110004 3-methylglutaconic aciduria type 3 ISO RGD:1603908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 PMID:16055927|PMID:27928778|PMID:28492532 12243317 DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0111546 Currarino syndrome ISO RGD:1603908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12243317 DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1603908 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 12243317 DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:630 genetic disease ISO RGD:1603908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12243336 SLC39A11 solute carrier family 39 member 11 gene DOID:0080600 COVID-19 ISO RGD:1323721 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12243336 SLC39A11 solute carrier family 39 member 11 gene DOID:3070 high grade glioma ISO RGD:1323721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12243336 SLC39A11 solute carrier family 39 member 11 gene DOID:630 genetic disease ISO RGD:1323721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243345 NOS3 nitric oxide synthase 3 gene DOID:0050700 cardiomyopathy ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:heart PMID:17589825|REF_RGD_ID:1642825 12243345 NOS3 nitric oxide synthase 3 gene DOID:0050700 cardiomyopathy susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia;DNA:repeats:intron: PMID:25699607|REF_RGD_ID:11533642 12243345 NOS3 nitric oxide synthase 3 gene DOID:0050848 obstructive sleep apnea ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: p. E298D (human) PMID:18651156|REF_RGD_ID:4892052 12243345 NOS3 nitric oxide synthase 3 gene DOID:0050848 obstructive sleep apnea ISO RGD:735618 D RGD:9068941 20200609 RGD associated with heart failure; protein:decreased expression:serum PMID:16806535|REF_RGD_ID:4892059 12243345 NOS3 nitric oxide synthase 3 gene DOID:0050848 obstructive sleep apnea ISO RGD:735618 D RGD:9068941 20200609 RGD protein:decreased expression, decreased phosphorylation:endothelial cells PMID:20159829|REF_RGD_ID:4892051 12243345 NOS3 nitric oxide synthase 3 gene DOID:0050848 obstructive sleep apnea severity ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell PMID:18413499|REF_RGD_ID:4891909 12243345 NOS3 nitric oxide synthase 3 gene DOID:0050852 limb ischemia ISO RGD:735618 D RGD:9068941 20200609 RGD human gene in rat model PMID:12171788|REF_RGD_ID:7794776 12243345 NOS3 nitric oxide synthase 3 gene DOID:0050852 limb ischemia treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:28979692|REF_RGD_ID:13450931 12243345 NOS3 nitric oxide synthase 3 gene DOID:0050852 limb ischemia treatment ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19080171|REF_RGD_ID:7794710 12243345 NOS3 nitric oxide synthase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:735618 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12243345 NOS3 nitric oxide synthase 3 gene DOID:0060180 colitis ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:17947450|REF_RGD_ID:2292124 12243345 NOS3 nitric oxide synthase 3 gene DOID:0060224 atrial fibrillation ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11761419 12243345 NOS3 nitric oxide synthase 3 gene DOID:0060496 respiratory allergy ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphism: :c. -786C>T (human) PMID:18086269|REF_RGD_ID:4892054 12243345 NOS3 nitric oxide synthase 3 gene DOID:0080322 polycystic kidney disease ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:12675853|REF_RGD_ID:11534000 12243345 NOS3 nitric oxide synthase 3 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:735618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 12243345 NOS3 nitric oxide synthase 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.E298D (human) PMID:16458450|REF_RGD_ID:2292076 12243345 NOS3 nitric oxide synthase 3 gene DOID:10591 pre-eclampsia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12243345 NOS3 nitric oxide synthase 3 gene DOID:10591 pre-eclampsia treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29250138|REF_RGD_ID:13504712 12243345 NOS3 nitric oxide synthase 3 gene DOID:10652 Alzheimer's disease ISO RGD:735618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to PMID:10475066|PMID:10510054|PMID:10514107|PMID:11026457|PMID:11354626|PMID:11394896|PMID:11745998|PMID:15007011|PMID:16059745|PMID:16813604|PMID:17165044|PMID:24033266|PMID:25741868|PMID:9737779|PMID:9894802 12243345 NOS3 nitric oxide synthase 3 gene DOID:10652 Alzheimer's disease onset ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E298D (human) PMID:10514107|REF_RGD_ID:1358752 12243345 NOS3 nitric oxide synthase 3 gene DOID:1070 primary open angle glaucoma ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:duplication:intron:IVS4?-?+27 (human) PMID:20069064|REF_RGD_ID:7771573 12243345 NOS3 nitric oxide synthase 3 gene DOID:1070 primary open angle glaucoma ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-690C>T (human) PMID:9493554|REF_RGD_ID:7771575 12243345 NOS3 nitric oxide synthase 3 gene DOID:1070 primary open angle glaucoma ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snps, haplotype:promoter, intron:g.-457C>T, g.IVS5+1182G>A (rs11771443, rs3793342) (human) PMID:21245953|REF_RGD_ID:7775039 12243345 NOS3 nitric oxide synthase 3 gene DOID:1070 primary open angle glaucoma no_association ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:intron:g.IVS15+1759C>A (rs3918188) (human) PMID:21245953|REF_RGD_ID:7775039 12243345 NOS3 nitric oxide synthase 3 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snps, haplotype:promoter, cds:g.-786T>C, p.E298D (human) PMID:22561696|REF_RGD_ID:7775055 12243345 NOS3 nitric oxide synthase 3 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD High Tension;DNA:snps:promoter, intron:g.-786T>C, g.IVS15+1759C>A (rs3918188) (human) PMID:19815736|REF_RGD_ID:7771543 12243345 NOS3 nitric oxide synthase 3 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:snp:promoter:g.-786T>C (rs2070744) (human) PMID:21670344|REF_RGD_ID:7771542 12243345 NOS3 nitric oxide synthase 3 gene DOID:1073 renal hypertension ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:20938214|REF_RGD_ID:4891989 12243345 NOS3 nitric oxide synthase 3 gene DOID:10762 portal hypertension ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:16142243|REF_RGD_ID:1580269 12243345 NOS3 nitric oxide synthase 3 gene DOID:10762 portal hypertension ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta (rat) PMID:10889169|REF_RGD_ID:7794685 12243345 NOS3 nitric oxide synthase 3 gene DOID:10762 portal hypertension ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18070013 12243345 NOS3 nitric oxide synthase 3 gene DOID:10762 portal hypertension treatment ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis, Biliary PMID:29263339|REF_RGD_ID:13504710 12243345 NOS3 nitric oxide synthase 3 gene DOID:10763 hypertension ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:11882615|REF_RGD_ID:1580271 12243345 NOS3 nitric oxide synthase 3 gene DOID:10763 hypertension ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Pregnancy Complications PMID:18047920|REF_RGD_ID:2292113 12243345 NOS3 nitric oxide synthase 3 gene DOID:10763 hypertension ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:brain PMID:20813549|REF_RGD_ID:4891993 12243345 NOS3 nitric oxide synthase 3 gene DOID:10763 hypertension ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11457755|PMID:12947532|PMID:16331104|PMID:19008412|PMID:19407804 12243345 NOS3 nitric oxide synthase 3 gene DOID:10763 hypertension ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E298D (human) PMID:9674630|REF_RGD_ID:1580282 12243345 NOS3 nitric oxide synthase 3 gene DOID:10763 hypertension no_association ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:duplication, snp:intron, cds:IVS4?-?+27, p.E298D (human) PMID:10981549|REF_RGD_ID:1580278 12243345 NOS3 nitric oxide synthase 3 gene DOID:10763 hypertension treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29084084|PMID:29285068|REF_RGD_ID:13446414|REF_RGD_ID:13504683 12243345 NOS3 nitric oxide synthase 3 gene DOID:10808 gastric ulcer ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19066340 12243345 NOS3 nitric oxide synthase 3 gene DOID:10808 gastric ulcer treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29095895|REF_RGD_ID:13446410 12243345 NOS3 nitric oxide synthase 3 gene DOID:10825 essential hypertension ISO RGD:735618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential hypertension PMID:25741868 12243345 NOS3 nitric oxide synthase 3 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:cds:c.894G>T (rs1799983) (human) PMID:23276910|REF_RGD_ID:7771558 12243345 NOS3 nitric oxide synthase 3 gene DOID:10923 sickle cell anemia severity ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphisms,haplotype:intron,cds:894G>T, -786T>C(human) PMID:24088668|REF_RGD_ID:11533647 12243345 NOS3 nitric oxide synthase 3 gene DOID:10941 intracranial aneurysm ISO RGD:10997 D RGD:9068941 20200609 RGD PMID:21321533|REF_RGD_ID:5131897 12243345 NOS3 nitric oxide synthase 3 gene DOID:10941 intracranial aneurysm ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:21321533|REF_RGD_ID:5131897 12243345 NOS3 nitric oxide synthase 3 gene DOID:10952 nephritis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Purpura, Schoenlein-Henoch;DNA:polymorphisms,haplotype: :894G>T,-786T>C (human) PMID:22895845|REF_RGD_ID:11533935 12243345 NOS3 nitric oxide synthase 3 gene DOID:11054 urinary bladder cancer ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:10475345|REF_RGD_ID:2292089 12243345 NOS3 nitric oxide synthase 3 gene DOID:11396 pulmonary edema ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:14767587|REF_RGD_ID:5132626 12243345 NOS3 nitric oxide synthase 3 gene DOID:11396 pulmonary edema ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16844920 12243345 NOS3 nitric oxide synthase 3 gene DOID:1168 familial hyperlipidemia ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased phosphorylation:aorta PMID:17895290|REF_RGD_ID:2292129 12243345 NOS3 nitric oxide synthase 3 gene DOID:1168 familial hyperlipidemia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11457755 12243345 NOS3 nitric oxide synthase 3 gene DOID:11713 diabetic angiopathy ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:cochlea PMID:19241604|REF_RGD_ID:4891384 12243345 NOS3 nitric oxide synthase 3 gene DOID:11713 diabetic angiopathy ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12124201 12243345 NOS3 nitric oxide synthase 3 gene DOID:11713 diabetic angiopathy treatment ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:29329611|REF_RGD_ID:13504708 12243345 NOS3 nitric oxide synthase 3 gene DOID:11840 coronary artery vasospasm ISO RGD:735618 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Coronary artery spasm 1, susceptibility to PMID:10359729|PMID:10475066|PMID:10510054|PMID:10514107|PMID:11026457|PMID:11354626|PMID:11394896|PMID:11745998|PMID:15007011|PMID:16059745|PMID:16813604|PMID:17165044|PMID:24033266|PMID:25741868|PMID:9737779|PMID:9894802 12243345 NOS3 nitric oxide synthase 3 gene DOID:12010 anterior ischemic optic neuropathy susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-786T>C (human) PMID:16633797|REF_RGD_ID:7775040 12243345 NOS3 nitric oxide synthase 3 gene DOID:12236 primary biliary cholangitis ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12243345 NOS3 nitric oxide synthase 3 gene DOID:12336 male infertility ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25517965 12243345 NOS3 nitric oxide synthase 3 gene DOID:1245 vulva cancer disease_progression ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:repeat:intron PMID:15196865|REF_RGD_ID:2292078 12243345 NOS3 nitric oxide synthase 3 gene DOID:127 leiomyoma ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:smooth muscle cell PMID:10671823|REF_RGD_ID:2292088 12243345 NOS3 nitric oxide synthase 3 gene DOID:1272 telangiectasis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with radiation treatment of Breast Neoplasms;DNA:polymorphisms PMID:18027873|REF_RGD_ID:2292067 12243345 NOS3 nitric oxide synthase 3 gene DOID:12858 Huntington's disease ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum (rat) PMID:17850874|REF_RGD_ID:2292130 12243345 NOS3 nitric oxide synthase 3 gene DOID:1287 cardiovascular system disease ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12947532|PMID:20610621 12243345 NOS3 nitric oxide synthase 3 gene DOID:13025 retinopathy of prematurity severity ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:duplication:intron:IVS4?-?+27 (human) PMID:18334945|REF_RGD_ID:7771560 12243345 NOS3 nitric oxide synthase 3 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:10997 D RGD:9068941 20220825 MouseDO OMIM:265380 12243345 NOS3 nitric oxide synthase 3 gene DOID:13241 Behcet's disease no_association ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:duplication:intron:g.IVS4?-?+27 (human) PMID:21957880|REF_RGD_ID:7775050 12243345 NOS3 nitric oxide synthase 3 gene DOID:13241 Behcet's disease no_association ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E298D PMID:16463158|REF_RGD_ID:7771577 12243345 NOS3 nitric oxide synthase 3 gene DOID:13241 Behcet's disease susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human) PMID:15705632|REF_RGD_ID:7775048 12243345 NOS3 nitric oxide synthase 3 gene DOID:13241 Behcet's disease susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E298D (human) PMID:11908569|REF_RGD_ID:7771576 12243345 NOS3 nitric oxide synthase 3 gene DOID:13550 angle-closure glaucoma ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:duplication:intron:IVS4?-?+27 (human) PMID:20069064|REF_RGD_ID:7771573 12243345 NOS3 nitric oxide synthase 3 gene DOID:13550 angle-closure glaucoma susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snps:introns:g.IVS5+1182G>A, g.IVS25+11C>A (rs3793342, rs7830) (human) PMID:23422825|REF_RGD_ID:7775046 12243345 NOS3 nitric oxide synthase 3 gene DOID:13580 cholestasis ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:11352814|REF_RGD_ID:7775033 12243345 NOS3 nitric oxide synthase 3 gene DOID:13619 extrahepatic cholestasis ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12243345 NOS3 nitric oxide synthase 3 gene DOID:13948 bladder neck obstruction ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:21256554|REF_RGD_ID:4891960 12243345 NOS3 nitric oxide synthase 3 gene DOID:14228 oligospermia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29983398 12243345 NOS3 nitric oxide synthase 3 gene DOID:14566 disease of cellular proliferation ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18344980 12243345 NOS3 nitric oxide synthase 3 gene DOID:1459 hypothyroidism ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased activity:ovary (rat) PMID:29214681|REF_RGD_ID:13504721 12243345 NOS3 nitric oxide synthase 3 gene DOID:1485 cystic fibrosis ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: c. 894G>T (human) PMID:12406848|REF_RGD_ID:4892049 12243345 NOS3 nitric oxide synthase 3 gene DOID:1584 acute chest syndrome susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:polymorphism: :-786T>C(human) PMID:14687036|REF_RGD_ID:11533934 12243345 NOS3 nitric oxide synthase 3 gene DOID:1584 acute chest syndrome susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:repeats:intron: PMID:25263931|REF_RGD_ID:11533931 12243345 NOS3 nitric oxide synthase 3 gene DOID:1591 renovascular hypertension ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18641695 12243345 NOS3 nitric oxide synthase 3 gene DOID:1612 breast cancer disease_progression ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:17891484|REF_RGD_ID:2292068 12243345 NOS3 nitric oxide synthase 3 gene DOID:1612 breast cancer no_association ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.E298D (human) PMID:16807677|REF_RGD_ID:2292075 12243345 NOS3 nitric oxide synthase 3 gene DOID:1612 breast cancer susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-786T>C (human) PMID:17063466|REF_RGD_ID:2292074 12243345 NOS3 nitric oxide synthase 3 gene DOID:1875 impotence ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Cocaine-Related Disorders;protein:decreased expression:penis PMID:17420087|REF_RGD_ID:2292142 12243345 NOS3 nitric oxide synthase 3 gene DOID:1875 impotence ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression, decreased activity PMID:20807325|REF_RGD_ID:4891999 12243345 NOS3 nitric oxide synthase 3 gene DOID:1875 impotence ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12002441|PMID:17071732 12243345 NOS3 nitric oxide synthase 3 gene DOID:1875 impotence treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29260891|REF_RGD_ID:13504711 12243345 NOS3 nitric oxide synthase 3 gene DOID:1936 atherosclerosis ISO RGD:10997 D RGD:9068941 20200609 RGD PMID:12163452|REF_RGD_ID:7771607 12243345 NOS3 nitric oxide synthase 3 gene DOID:1936 atherosclerosis ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12677255|PMID:20720404 12243345 NOS3 nitric oxide synthase 3 gene DOID:1936 atherosclerosis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:exon:c.894G>T (human) PMID:21114134|REF_RGD_ID:7771564 12243345 NOS3 nitric oxide synthase 3 gene DOID:2018 hyperinsulinism ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19008412 12243345 NOS3 nitric oxide synthase 3 gene DOID:2074 intestinal perforation ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18030227 12243345 NOS3 nitric oxide synthase 3 gene DOID:224 transient cerebral ischemia ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:29298658|REF_RGD_ID:13503353 12243345 NOS3 nitric oxide synthase 3 gene DOID:224 transient cerebral ischemia treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:28944915|PMID:29312485|REF_RGD_ID:13450951|REF_RGD_ID:13503330 12243345 NOS3 nitric oxide synthase 3 gene DOID:2316 brain ischemia ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:17600658|PMID:21212863|REF_RGD_ID:2292134|REF_RGD_ID:4891961 12243345 NOS3 nitric oxide synthase 3 gene DOID:2349 arteriosclerosis ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14736551 12243345 NOS3 nitric oxide synthase 3 gene DOID:2394 ovarian cancer disease_progression ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:repeat:intron PMID:12144818|REF_RGD_ID:2298575 12243345 NOS3 nitric oxide synthase 3 gene DOID:2799 bronchiolitis obliterans ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15136885|REF_RGD_ID:4892068 12243345 NOS3 nitric oxide synthase 3 gene DOID:2841 asthma susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:c. -786C>T, -691C>T (human) PMID:16837812|REF_RGD_ID:4892058 12243345 NOS3 nitric oxide synthase 3 gene DOID:2841 asthma susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:repeats:intron PMID:16081038|REF_RGD_ID:4892062 12243345 NOS3 nitric oxide synthase 3 gene DOID:2841 asthma susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snps, repeat, haplotype:promoter, introns, exons:multiple (human) PMID:18486767|REF_RGD_ID:4892053 12243345 NOS3 nitric oxide synthase 3 gene DOID:2843 long QT syndrome ISO RGD:735618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 12243345 NOS3 nitric oxide synthase 3 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:9276029|REF_RGD_ID:2292090 12243345 NOS3 nitric oxide synthase 3 gene DOID:299 adenocarcinoma ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 12243345 NOS3 nitric oxide synthase 3 gene DOID:3021 acute kidney failure ISO RGD:3186 D RGD:9068941 20200609 RGD in females;mRNA:increased expression:cortex of kidney (rat) PMID:28947737|REF_RGD_ID:13450947 12243345 NOS3 nitric oxide synthase 3 gene DOID:3021 acute kidney failure ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9788586 12243345 NOS3 nitric oxide synthase 3 gene DOID:3070 high grade glioma ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:blood vessel endothelial cell PMID:14672505|REF_RGD_ID:2292080 12243345 NOS3 nitric oxide synthase 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21843929 12243345 NOS3 nitric oxide synthase 3 gene DOID:326 ischemia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15036356 12243345 NOS3 nitric oxide synthase 3 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11306434|REF_RGD_ID:4892080 12243345 NOS3 nitric oxide synthase 3 gene DOID:3393 coronary artery disease ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10510054|PMID:14989558|PMID:17267746|PMID:19696404 12243345 NOS3 nitric oxide synthase 3 gene DOID:3393 coronary artery disease ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:duplication:intron:IVS4?-?+27 (human) PMID:8564837|REF_RGD_ID:7421529 12243345 NOS3 nitric oxide synthase 3 gene DOID:3393 coronary artery disease susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:cds:c.894G>T (human) PMID:16284093|REF_RGD_ID:7771567 12243345 NOS3 nitric oxide synthase 3 gene DOID:3393 coronary artery disease susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-786T>C (human) PMID:19761682|REF_RGD_ID:7771578 12243345 NOS3 nitric oxide synthase 3 gene DOID:3426 vestibular disease ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18776599 12243345 NOS3 nitric oxide synthase 3 gene DOID:3526 cerebral infarction ISO RGD:735618 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ischemic stroke PMID:10475066|PMID:10510054|PMID:10514107|PMID:11026457|PMID:11354626|PMID:11394896|PMID:11745998|PMID:15007011|PMID:16059745|PMID:16813604|PMID:17165044|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9737779|PMID:9894802 12243345 NOS3 nitric oxide synthase 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased expression:pulmonary artery (rat) PMID:29216632|REF_RGD_ID:13504720 12243345 NOS3 nitric oxide synthase 3 gene DOID:4195 hyperglycemia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11696579 12243345 NOS3 nitric oxide synthase 3 gene DOID:4449 macular retinal edema susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human) PMID:15333482|REF_RGD_ID:7775044 12243345 NOS3 nitric oxide synthase 3 gene DOID:4676 uremia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 12243345 NOS3 nitric oxide synthase 3 gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:735618 D RGD:9068941 20210521 RGD DNA:SNP:3'utr: (rs2070744) (human) PMID:21472143|REF_RGD_ID:126925218 12243345 NOS3 nitric oxide synthase 3 gene DOID:5082 liver cirrhosis ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:10535886|REF_RGD_ID:7775034 12243345 NOS3 nitric oxide synthase 3 gene DOID:5082 liver cirrhosis treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:12759254|REF_RGD_ID:7794774 12243345 NOS3 nitric oxide synthase 3 gene DOID:5199 ureteral obstruction ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26207612 12243345 NOS3 nitric oxide synthase 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:735618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12243345 NOS3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:22012955|REF_RGD_ID:7771563 12243345 NOS3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (rat) PMID:28980197|REF_RGD_ID:13450930 12243345 NOS3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10510054|PMID:16337503 12243345 NOS3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction ISO RGD:735618 D RGD:9068941 20200609 RGD PMID:12362496|REF_RGD_ID:1580283 12243345 NOS3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:duplication:intron:IVS4?-?+27 (human) PMID:11903359|REF_RGD_ID:1580284 12243345 NOS3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction ISO RGD:735618 D RGD:9068941 20200609 RGD human gene in rat model PMID:17637430|REF_RGD_ID:7771561 12243345 NOS3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:repeats:intron PMID:10531147|REF_RGD_ID:5128481 12243345 NOS3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction treatment ISO RGD:10997 D RGD:9068941 20200609 RGD PMID:29311930|REF_RGD_ID:13503346 12243345 NOS3 nitric oxide synthase 3 gene DOID:6000 congestive heart failure ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19168511|PMID:20304815 12243345 NOS3 nitric oxide synthase 3 gene DOID:6000 congestive heart failure treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29351461|REF_RGD_ID:13504746 12243345 NOS3 nitric oxide synthase 3 gene DOID:62 aortic valve disease ISO RGD:10997 D RGD:9068941 20220825 MouseDO 12243345 NOS3 nitric oxide synthase 3 gene DOID:630 genetic disease ISO RGD:735618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243345 NOS3 nitric oxide synthase 3 gene DOID:6364 migraine ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Glaucoma;DNA:snp, haplotype:promoter:g.-786T>C (human) PMID:16123422|REF_RGD_ID:7771539 12243345 NOS3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:10997 D RGD:9068941 20200609 RGD PMID:19487814|REF_RGD_ID:4892039 12243345 NOS3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:10997 D RGD:9068941 20200609 RGD RNA:increased expression:lung PMID:11686901|REF_RGD_ID:5132631 12243345 NOS3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:17065228|PMID:20215577|REF_RGD_ID:4892038|REF_RGD_ID:4892043 12243345 NOS3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pulmonary endothelial cell PMID:20724942|REF_RGD_ID:4892004 12243345 NOS3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21144100 12243345 NOS3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.E298D (human) PMID:21144100|REF_RGD_ID:4892009 12243345 NOS3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:735618 D RGD:9068941 20200609 RGD associated with chronic obstructive pulmonary disease; DNA:polymorphism:cds:p.G894T (human) PMID:18953956|REF_RGD_ID:4892042 12243345 NOS3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:735618 D RGD:9068941 20200609 RGD associated with heart disease; protein:increased expression:endothelial cell PMID:19912632|REF_RGD_ID:5132602 12243345 NOS3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:arteriole PMID:21111729|REF_RGD_ID:4892010 12243345 NOS3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia;DNA:repeats:intron: PMID:25699607|REF_RGD_ID:11533642 12243345 NOS3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29151278|REF_RGD_ID:13504742 12243345 NOS3 nitric oxide synthase 3 gene DOID:654 overnutrition ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:decreased expression:renal artery (rat) PMID:28958692|REF_RGD_ID:13450942 12243345 NOS3 nitric oxide synthase 3 gene DOID:674 cleft palate ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 12243345 NOS3 nitric oxide synthase 3 gene DOID:783 end stage renal disease ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus PMID:18089446|REF_RGD_ID:2292109 12243345 NOS3 nitric oxide synthase 3 gene DOID:783 end stage renal disease susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:duplication, snp:intron, cds:g.IVS4?-?+27, p.E298D (human) PMID:12701818|REF_RGD_ID:7777097 12243345 NOS3 nitric oxide synthase 3 gene DOID:784 chronic kidney disease susceptibility ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:decreased expression:cortex of kidney (rat) PMID:29018182|REF_RGD_ID:13450920 12243345 NOS3 nitric oxide synthase 3 gene DOID:784 chronic kidney disease treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29247650|REF_RGD_ID:13504713 12243345 NOS3 nitric oxide synthase 3 gene DOID:8440 ileus treatment ISO RGD:3186 D RGD:9068941 20220421 RGD PMID:30852906|REF_RGD_ID:151893492 12243345 NOS3 nitric oxide synthase 3 gene DOID:8466 retinal degeneration ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:16209285|REF_RGD_ID:7775035 12243345 NOS3 nitric oxide synthase 3 gene DOID:8466 retinal degeneration treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:16209285|REF_RGD_ID:7775035 12243345 NOS3 nitric oxide synthase 3 gene DOID:850 lung disease ISO RGD:10997 D RGD:9068941 20200609 RGD lung injury associated with hyperoxia PMID:20497690|REF_RGD_ID:4891426 12243345 NOS3 nitric oxide synthase 3 gene DOID:850 lung disease ISO RGD:10997 D RGD:9068941 20200609 RGD ventilator-induced lung injury PMID:20453164|REF_RGD_ID:4892013 12243345 NOS3 nitric oxide synthase 3 gene DOID:850 lung disease ISO RGD:3186 D RGD:9068941 20200609 RGD lung injury associated with reperfusion injury; protein:decreased expression:lung PMID:21056587|REF_RGD_ID:4892011 12243345 NOS3 nitric oxide synthase 3 gene DOID:865 vasculitis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.E298D (human) PMID:14583572|REF_RGD_ID:7775052 12243345 NOS3 nitric oxide synthase 3 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23650378 12243345 NOS3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:retina (rat) PMID:23059402|REF_RGD_ID:7771569 12243345 NOS3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:duplication:intron:IVS4?-?+27 (human) PMID:11918626|REF_RGD_ID:7421532 12243345 NOS3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snps, duplication, haplotype:promoter, cds, intron:g.-786T>C, p.E298N, IVS4?-?+27 (human) PMID:17973941|REF_RGD_ID:7421533 12243345 NOS3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy no_association ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:duplication:intron:IVS4?-?+27 (human) PMID:16581274|PMID:17558849|REF_RGD_ID:7421531|REF_RGD_ID:7775042 12243345 NOS3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy no_association ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snps, duplication, haplotype:promoter, cds, intron:g.-786T>C, p.E298N, IVS4?-?+27 (human) PMID:22017289|REF_RGD_ID:7777101 12243345 NOS3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy onset ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snps:promoter, exon:c.-786T>C, c.774C>T (human) PMID:15890549|REF_RGD_ID:7771565 12243345 NOS3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy severity ISO RGD:10997 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:20435587|REF_RGD_ID:7771568 12243345 NOS3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snp:exon:c.894G>T (human) PMID:23776381|REF_RGD_ID:7777103 12243345 NOS3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy treatment ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18840783|REF_RGD_ID:7771606 12243345 NOS3 nitric oxide synthase 3 gene DOID:900 hepatopulmonary syndrome ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis;protein:increased expression:lung PMID:18081228|REF_RGD_ID:2292110 12243345 NOS3 nitric oxide synthase 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:17287083|REF_RGD_ID:4891407 12243345 NOS3 nitric oxide synthase 3 gene DOID:9000081 Lymphatic Metastasis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA:polymorphisms:promoter, exon:-786T>C,p.E298D (human) PMID:17262178|REF_RGD_ID:2292070 12243345 NOS3 nitric oxide synthase 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 12243345 NOS3 nitric oxide synthase 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12243345 NOS3 nitric oxide synthase 3 gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased expression:kidney: PMID:10908153|REF_RGD_ID:11533936 12243345 NOS3 nitric oxide synthase 3 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:increased expression:parietal cortex, arteriole (rat) PMID:11273938|REF_RGD_ID:7794687 12243345 NOS3 nitric oxide synthase 3 gene DOID:9000641 Pain ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:18079061|REF_RGD_ID:2292111 12243345 NOS3 nitric oxide synthase 3 gene DOID:9000669 Ventricular Dysfunction, Right ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary PMID:16820570|REF_RGD_ID:4892044 12243345 NOS3 nitric oxide synthase 3 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10997 D RGD:9068941 20200609 RGD PMID:16714207|REF_RGD_ID:4892061 12243345 NOS3 nitric oxide synthase 3 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10997 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:19286931|REF_RGD_ID:5132864 12243345 NOS3 nitric oxide synthase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:blood vessel endothelial cell PMID:14672505|REF_RGD_ID:2292080 12243345 NOS3 nitric oxide synthase 3 gene DOID:9000965 Neoplasm Metastasis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA:polymorphism:promoter:-786T>C (human) PMID:14623178|REF_RGD_ID:2292081 12243345 NOS3 nitric oxide synthase 3 gene DOID:9000965 Neoplasm Metastasis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;DNA:polymorphism PMID:12445681|REF_RGD_ID:2292087 12243345 NOS3 nitric oxide synthase 3 gene DOID:9001390 Testis Reperfusion Injury ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:18205898|REF_RGD_ID:2292105 12243345 NOS3 nitric oxide synthase 3 gene DOID:9001472 Nasal Polyps ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa (human) PMID:15942806|REF_RGD_ID:7771559 12243345 NOS3 nitric oxide synthase 3 gene DOID:9001553 Spinal Cord Compression treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29323048|REF_RGD_ID:13504709 12243345 NOS3 nitric oxide synthase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:17918268|REF_RGD_ID:2292126 12243345 NOS3 nitric oxide synthase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased expression:spleen PMID:17481668|REF_RGD_ID:2292140 12243345 NOS3 nitric oxide synthase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18555214 12243345 NOS3 nitric oxide synthase 3 gene DOID:9001650 Pregnancy-Induced Hypertension ISO RGD:735618 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertension, pregnancy-induced, susceptibility to PMID:10475066|PMID:10510054|PMID:10514107|PMID:11026457|PMID:11354626|PMID:11394896|PMID:11745998|PMID:15007011|PMID:16059745|PMID:16813604|PMID:17165044|PMID:24033266|PMID:25741868|PMID:9737779|PMID:9894802 12243345 NOS3 nitric oxide synthase 3 gene DOID:9001708 Hemorrhagic Shock ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:increased expression: :multiple PMID:15854664|REF_RGD_ID:1580937 12243345 NOS3 nitric oxide synthase 3 gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29122552|REF_RGD_ID:13450929 12243345 NOS3 nitric oxide synthase 3 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:altered expression:retina (rat) PMID:9950605|REF_RGD_ID:7771570 12243345 NOS3 nitric oxide synthase 3 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:retinal vasculature, retinal ganglion cell layer (rat) PMID:12634478|REF_RGD_ID:7775037 12243345 NOS3 nitric oxide synthase 3 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:11496119|REF_RGD_ID:7775036 12243345 NOS3 nitric oxide synthase 3 gene DOID:9001955 Diabetic Gastroparesis ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:decreased expression:pyloric antrum (rat) PMID:29071981|REF_RGD_ID:13446417 12243345 NOS3 nitric oxide synthase 3 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:28966130|REF_RGD_ID:13450941 12243345 NOS3 nitric oxide synthase 3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20042665 12243345 NOS3 nitric oxide synthase 3 gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:duplication:intron:IVS4?-?+27 (human) PMID:10741691|REF_RGD_ID:7421534 12243345 NOS3 nitric oxide synthase 3 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:duplication:intron:IVS4?-?+27 (human) PMID:10868974|REF_RGD_ID:7421530 12243345 NOS3 nitric oxide synthase 3 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:29336891|REF_RGD_ID:13504726 12243345 NOS3 nitric oxide synthase 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3186 D RGD:9068941 20200609 RGD RNA, protein:increased expression:thoracic aorta: PMID:29741931|REF_RGD_ID:13792602 12243345 NOS3 nitric oxide synthase 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3186 D RGD:9068941 20200609 RGD associated with hyperinsulinemia; protein:decreased expression:placenta PMID:19709742|REF_RGD_ID:5132592 12243345 NOS3 nitric oxide synthase 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22421449|PMID:23667712 12243345 NOS3 nitric oxide synthase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12429631|PMID:12445681|PMID:16458450 12243345 NOS3 nitric oxide synthase 3 gene DOID:9002321 Teratozoospermia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29983398 12243345 NOS3 nitric oxide synthase 3 gene DOID:9002371 Cardiotoxicity treatment ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphism: :894G>T(human) PMID:26345518|REF_RGD_ID:11533645 12243345 NOS3 nitric oxide synthase 3 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29337196|REF_RGD_ID:13504725 12243345 NOS3 nitric oxide synthase 3 gene DOID:9002669 Hypoxia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10956627 12243345 NOS3 nitric oxide synthase 3 gene DOID:9003104 Intracranial Hemorrhages treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29203281|REF_RGD_ID:13504724 12243345 NOS3 nitric oxide synthase 3 gene DOID:9003121 Thromboembolism susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:repeats:intron PMID:10531147|REF_RGD_ID:5128481 12243345 NOS3 nitric oxide synthase 3 gene DOID:9003197 Vaso-occlusive Crisis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:repeats:intron: PMID:25263931|REF_RGD_ID:11533931 12243345 NOS3 nitric oxide synthase 3 gene DOID:9003230 Graft Occlusion, Vascular susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:repeats:intron PMID:17365407|REF_RGD_ID:11533930 12243345 NOS3 nitric oxide synthase 3 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-786T>C (human) PMID:18086269|REF_RGD_ID:4892054 12243345 NOS3 nitric oxide synthase 3 gene DOID:9003817 Sudden Hearing Loss ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E298D (rs1799983) (human) PMID:23560644|REF_RGD_ID:7771541 12243345 NOS3 nitric oxide synthase 3 gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with orthopedic surgery;DNA:SNP::rs1799983(human) PMID:23922896|REF_RGD_ID:11533639 12243345 NOS3 nitric oxide synthase 3 gene DOID:9003936 Cardiomegaly ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:17487232|REF_RGD_ID:2289120 12243345 NOS3 nitric oxide synthase 3 gene DOID:9003936 Cardiomegaly ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11504159|PMID:12224825|PMID:16844920|PMID:17487232 12243345 NOS3 nitric oxide synthase 3 gene DOID:9003936 Cardiomegaly treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29331788|REF_RGD_ID:13504707 12243345 NOS3 nitric oxide synthase 3 gene DOID:9004009 Reperfusion Injury ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21968084 12243345 NOS3 nitric oxide synthase 3 gene DOID:9004240 Phyllodes Tumor ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15917410|REF_RGD_ID:2292077 12243345 NOS3 nitric oxide synthase 3 gene DOID:9004250 Hepatic Insufficiency ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12243345 NOS3 nitric oxide synthase 3 gene DOID:9004283 Transplant Rejection treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29218089|REF_RGD_ID:13504718 12243345 NOS3 nitric oxide synthase 3 gene DOID:9004484 Sepsis ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20035746 12243345 NOS3 nitric oxide synthase 3 gene DOID:9004484 Sepsis ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:17999941|REF_RGD_ID:2292119 12243345 NOS3 nitric oxide synthase 3 gene DOID:9004590 Acute Liver Failure ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:17276928|REF_RGD_ID:2292148 12243345 NOS3 nitric oxide synthase 3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:cardiac myocyte (rat) PMID:9747440|REF_RGD_ID:7794715 12243345 NOS3 nitric oxide synthase 3 gene DOID:9004756 Brain Hypoxia ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:caudate putamen (rat) PMID:14980808|REF_RGD_ID:7794714 12243345 NOS3 nitric oxide synthase 3 gene DOID:9005141 Ventricular Tachycardia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11761419 12243345 NOS3 nitric oxide synthase 3 gene DOID:9005369 Hepatomegaly ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12243345 NOS3 nitric oxide synthase 3 gene DOID:9005396 Intimal Hyperplasia treatment ISO RGD:735618 D RGD:9068941 20200609 RGD PMID:9576106|REF_RGD_ID:11534002 12243345 NOS3 nitric oxide synthase 3 gene DOID:9005605 Arteriovenous Fistula ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:vena cava PMID:17344190|REF_RGD_ID:2292146 12243345 NOS3 nitric oxide synthase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10997 D RGD:9068941 20200609 RGD protein:decreased expression:thoracic aorta (mouse) PMID:21050844|REF_RGD_ID:7777108 12243345 NOS3 nitric oxide synthase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:18825362|REF_RGD_ID:4892007 12243345 NOS3 nitric oxide synthase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:18287592|REF_RGD_ID:2292100 12243345 NOS3 nitric oxide synthase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11696579|PMID:14871415|PMID:15490108|PMID:16959961|PMID:18266981|PMID:19478208|PMID:22191573|PMID:22933112 12243345 NOS3 nitric oxide synthase 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:10997 D RGD:9068941 20200609 RGD PMID:21050844|REF_RGD_ID:7777108 12243345 NOS3 nitric oxide synthase 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:28976888|REF_RGD_ID:13450939 12243345 NOS3 nitric oxide synthase 3 gene DOID:9005930 Endotoxemia ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:aorta (rat) PMID:10462376|REF_RGD_ID:7794732 12243345 NOS3 nitric oxide synthase 3 gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary PMID:22022327|REF_RGD_ID:7794708 12243345 NOS3 nitric oxide synthase 3 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:pulmonary artery PMID:9950873|REF_RGD_ID:11533933 12243345 NOS3 nitric oxide synthase 3 gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29207649|REF_RGD_ID:13504723 12243345 NOS3 nitric oxide synthase 3 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29291552|REF_RGD_ID:13504682 12243345 NOS3 nitric oxide synthase 3 gene DOID:9006599 Hypertriglyceridemia ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased expression:aorta PMID:17824809|REF_RGD_ID:2292131 12243345 NOS3 nitric oxide synthase 3 gene DOID:9006646 Metabolic Syndrome ISO RGD:735618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to PMID:28361419 12243345 NOS3 nitric oxide synthase 3 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:28967023|REF_RGD_ID:13461762 12243345 NOS3 nitric oxide synthase 3 gene DOID:9006738 Hypertension Resistant to Conventional Therapy ISO RGD:735618 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertension resistant to conventional therapy PMID:10475066|PMID:10510054|PMID:10514107|PMID:11026457|PMID:11354626|PMID:11394896|PMID:11745998|PMID:15007011|PMID:16059745|PMID:16813604|PMID:17165044|PMID:24033266|PMID:25741868|PMID:9737779|PMID:9894802 12243345 NOS3 nitric oxide synthase 3 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:10997 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:25382268|REF_RGD_ID:11533932 12243345 NOS3 nitric oxide synthase 3 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:20815765|REF_RGD_ID:4892012 12243345 NOS3 nitric oxide synthase 3 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:29274332|REF_RGD_ID:13504685 12243345 NOS3 nitric oxide synthase 3 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11761419 12243345 NOS3 nitric oxide synthase 3 gene DOID:9007096 Stroke ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:18234158|REF_RGD_ID:2292103 12243345 NOS3 nitric oxide synthase 3 gene DOID:9007096 Stroke susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:repeats:intron: PMID:25263931|REF_RGD_ID:11533931 12243345 NOS3 nitric oxide synthase 3 gene DOID:9007096 Stroke treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29152647|REF_RGD_ID:13504814 12243345 NOS3 nitric oxide synthase 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:735618 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ischemic heart disease, susceptibility to PMID:10475066|PMID:10510054|PMID:10514107|PMID:11026457|PMID:11354626|PMID:11394896|PMID:11745998|PMID:15007011|PMID:16059745|PMID:16813604|PMID:17165044|PMID:24033266|PMID:25741868|PMID:9737779|PMID:9894802 12243345 NOS3 nitric oxide synthase 3 gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:duplication, snp:intron, cds:g.IVS4?-?+27, p.E298D (human) PMID:15007011|REF_RGD_ID:7777100 12243345 NOS3 nitric oxide synthase 3 gene DOID:9007370 Child Behavior Disorders susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated withPrecursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymprphism,haplotype: :-786T>C(human) PMID:23612386|REF_RGD_ID:11533937 12243345 NOS3 nitric oxide synthase 3 gene DOID:9007480 Hyperoxia ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:17937862|REF_RGD_ID:2292125 12243345 NOS3 nitric oxide synthase 3 gene DOID:9007692 Insulin Resistance ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:18298918|REF_RGD_ID:2292098 12243345 NOS3 nitric oxide synthase 3 gene DOID:9007692 Insulin Resistance ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11457755|PMID:12716763|PMID:12947532|PMID:19008412 12243345 NOS3 nitric oxide synthase 3 gene DOID:9007692 Insulin Resistance treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:28946194|REF_RGD_ID:13450950 12243345 NOS3 nitric oxide synthase 3 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:16610051|REF_RGD_ID:7777112 12243345 NOS3 nitric oxide synthase 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:18390819|PMID:20828747|REF_RGD_ID:2292091|REF_RGD_ID:4891991 12243345 NOS3 nitric oxide synthase 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12354446 12243345 NOS3 nitric oxide synthase 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29274587|PMID:29299201|REF_RGD_ID:13503347|REF_RGD_ID:13504684 12243345 NOS3 nitric oxide synthase 3 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:15703700|REF_RGD_ID:13824977 12243345 NOS3 nitric oxide synthase 3 gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung;DNA:SNP:cds:c.894G>T rs1799983 (human) PMID:20811626|REF_RGD_ID:5131286 12243345 NOS3 nitric oxide synthase 3 gene DOID:9008939 Breast Neoplasms ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15375496|PMID:19671875 12243345 NOS3 nitric oxide synthase 3 gene DOID:9009039 Hyperemia ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:SNP: :894G>T (human) PMID:11668050|REF_RGD_ID:7777102 12243345 NOS3 nitric oxide synthase 3 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:7576705|REF_RGD_ID:5132862 12243345 NOS3 nitric oxide synthase 3 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7576705|PMID:8863223 12243345 NOS3 nitric oxide synthase 3 gene DOID:9009107 Drug-Induced Enteropathy treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29064425|REF_RGD_ID:13450913 12243345 NOS3 nitric oxide synthase 3 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphgism: : 894 G>T(human) PMID:24684492|REF_RGD_ID:11533640 12243345 NOS3 nitric oxide synthase 3 gene DOID:9220 central sleep apnea ISO RGD:735618 D RGD:9068941 20200609 RGD associated with heart failure; protein:decreased expression:serum PMID:16806535|REF_RGD_ID:4892059 12243345 NOS3 nitric oxide synthase 3 gene DOID:9296 cleft lip ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 12243345 NOS3 nitric oxide synthase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:18356581|REF_RGD_ID:2292097 12243345 NOS3 nitric oxide synthase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12716763|PMID:16959961 12243345 NOS3 nitric oxide synthase 3 gene DOID:9477 pulmonary embolism ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:17219957|REF_RGD_ID:2292151 12243345 NOS3 nitric oxide synthase 3 gene DOID:9498 pulmonary eosinophilia ISO RGD:10997 D RGD:9068941 20200609 RGD PMID:16714207|REF_RGD_ID:4892061 12243345 NOS3 nitric oxide synthase 3 gene DOID:9667 placental abruption ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11354626 12243345 NOS3 nitric oxide synthase 3 gene DOID:9675 pulmonary emphysema ISO RGD:10997 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung PMID:20956973|REF_RGD_ID:4891415 12243345 NOS3 nitric oxide synthase 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21666113 12243345 NOS3 nitric oxide synthase 3 gene DOID:9778 irritable bowel syndrome ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:23691109|REF_RGD_ID:7771566 12243345 NOS3 nitric oxide synthase 3 gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype:cds,intron:P.E298D,-786T>C(human) PMID:20510681|REF_RGD_ID:11533646 12243345 NOS3 nitric oxide synthase 3 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:SNP: :rs3918186(human) PMID:23922896|REF_RGD_ID:11533639 12243345 NOS3 nitric oxide synthase 3 gene DOID:9970 obesity ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased expression:artery PMID:17623751|REF_RGD_ID:2292133 12243345 NOS3 nitric oxide synthase 3 gene DOID:9970 obesity treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29180887|REF_RGD_ID:13504728 12243388 EMSY EMSY transcriptional repressor, BRCA2 interacting gene DOID:1059 intellectual disability ISO RGD:1345109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12243388 EMSY EMSY transcriptional repressor, BRCA2 interacting gene DOID:11612 polycystic ovary syndrome ISO RGD:1345109 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12243388 EMSY EMSY transcriptional repressor, BRCA2 interacting gene DOID:3310 atopic dermatitis ISO RGD:1345109 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23042114 12243388 EMSY EMSY transcriptional repressor, BRCA2 interacting gene DOID:630 genetic disease ISO RGD:1345109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243388 EMSY EMSY transcriptional repressor, BRCA2 interacting gene DOID:9005539 Familial Prostate Cancer ISO RGD:1345109 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12243388 EMSY EMSY transcriptional repressor, BRCA2 interacting gene DOID:9008939 Breast Neoplasms ISO RGD:1345109 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19636701 12243417 CAPN7 calpain 7 gene DOID:0060417 3p deletion syndrome ISO RGD:1312532 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12243417 CAPN7 calpain 7 gene DOID:630 genetic disease ISO RGD:1312532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243442 ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:736641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 PMID:28492532 12243442 ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:1059 intellectual disability ISO RGD:736641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26467025|PMID:28492532 12243442 ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:10907 microcephaly ISO RGD:736641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12243442 ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:630 genetic disease ISO RGD:736641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12243442 ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:9000345 Periventricular Laminar Heterotopia ISO RGD:736641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Periventricular laminar heterotopia PMID:28492532 12243442 ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:9002205 Periventricular Nodular Heterotopia 2 ISO RGD:736641 D RGD:7240710 20180130 OMIM 12243442 ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:9002205 Periventricular Nodular Heterotopia 2 ISO RGD:736641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periventricular heterotopia with microcephaly, autosomal recessive PMID:12682315|PMID:14647276|PMID:17576681|PMID:18414213|PMID:23812912|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532|PMID:9536098 12243442 ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:9008086 Developmental Disabilities ISO RGD:736641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 12243485 DECR1 2,4-dienoyl-CoA reductase 1 gene DOID:3146 lipid metabolism disorder ISO RGD:733605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2332510 12243485 DECR1 2,4-dienoyl-CoA reductase 1 gene DOID:630 genetic disease ISO RGD:733605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243485 DECR1 2,4-dienoyl-CoA reductase 1 gene DOID:7400 Nijmegen breakage syndrome ISO RGD:733605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency PMID:28492532 12243485 DECR1 2,4-dienoyl-CoA reductase 1 gene DOID:9005948 2,4-Dienoyl-CoA Reductase Deficiency ISO RGD:733605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 2,4-Dienoyl-CoA reductase deficiency PMID:25741868|PMID:28492532 12243503 REEP3 receptor accessory protein 3 gene DOID:0060224 atrial fibrillation ISO RGD:1603350 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12243503 REEP3 receptor accessory protein 3 gene DOID:12849 autistic disorder ISO RGD:1603350 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17290275 12243503 REEP3 receptor accessory protein 3 gene DOID:630 genetic disease ISO RGD:1603350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243514 C5H17orf49 chromosome 5 C17orf49 homolog gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1606738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12243514 C5H17orf49 chromosome 5 C17orf49 homolog gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1606738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 12243514 C5H17orf49 chromosome 5 C17orf49 homolog gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1606738 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12243514 C5H17orf49 chromosome 5 C17orf49 homolog gene DOID:12177 common variable immunodeficiency ISO RGD:1606738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12243514 C5H17orf49 chromosome 5 C17orf49 homolog gene DOID:2729 dyskeratosis congenita ISO RGD:1606738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12243541 IL25 interleukin 25 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1344819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12243541 IL25 interleukin 25 gene DOID:10808 gastric ulcer treatment ISO RGD:1561632 D RGD:9068941 20201218 RGD PMID:26054198|REF_RGD_ID:40902976 12243541 IL25 interleukin 25 gene DOID:2841 asthma ISO RGD:1557614 D RGD:9068941 20201218 RGD mRNA, protein:increased expression:lung PMID:25273095|REF_RGD_ID:39128256 12243541 IL25 interleukin 25 gene DOID:3310 atopic dermatitis ISO RGD:1344819 D RGD:9068941 20201218 RGD protein:increased expression:arm skin PMID:23657503|REF_RGD_ID:39128244 12243541 IL25 interleukin 25 gene DOID:630 genetic disease ISO RGD:1344819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243541 IL25 interleukin 25 gene DOID:8893 psoriasis ISO RGD:1344819 D RGD:9068941 20201218 RGD protein:increased expression:arm skin PMID:23657503|REF_RGD_ID:39128244 12243541 IL25 interleukin 25 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1557614 D RGD:9068941 20201218 RGD PMID:19118508|REF_RGD_ID:39456129 12243541 IL25 interleukin 25 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1344819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 12243541 IL25 interleukin 25 gene DOID:9000917 Amoebic Dysentery due to Entamoeba Histolytica ISO RGD:1344819 D RGD:9068941 20201218 RGD protein:decreased expression:intestine PMID:28246365|REF_RGD_ID:39128243 12243541 IL25 interleukin 25 gene DOID:9000917 Amoebic Dysentery due to Entamoeba Histolytica ISO RGD:1557614 D RGD:9068941 20201218 RGD protein:decreased expression:intestine PMID:28246365|REF_RGD_ID:39128243 12243541 IL25 interleukin 25 gene DOID:9003470 Picornaviridae Infections ISO RGD:1344819 D RGD:9068941 20201218 RGD protein:increased expression:nasal mucus PMID:25273095|REF_RGD_ID:39128256 12243541 IL25 interleukin 25 gene DOID:9003470 Picornaviridae Infections ISO RGD:1557614 D RGD:9068941 20201218 RGD mRNA, protein:increased expression:lung PMID:25273095|REF_RGD_ID:39128256 12243541 IL25 interleukin 25 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1344819 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12243541 IL25 interleukin 25 gene DOID:9415 allergic asthma treatment ISO RGD:1557614 D RGD:9068941 20201218 RGD PMID:17889290|REF_RGD_ID:40902975 12243548 PPP2R5E protein phosphatase 2 regulatory subunit B'epsilon gene DOID:224 transient cerebral ischemia treatment ISO RGD:1305657 D RGD:9068941 20230105 RGD PMID:30712471|REF_RGD_ID:155791663 12243548 PPP2R5E protein phosphatase 2 regulatory subunit B'epsilon gene DOID:630 genetic disease ISO RGD:1313814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243548 PPP2R5E protein phosphatase 2 regulatory subunit B'epsilon gene DOID:9003882 Chromosomal Instability ISO RGD:1313814 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25772433 12243548 PPP2R5E protein phosphatase 2 regulatory subunit B'epsilon gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1313814 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25772433 12243568 KLHL11 kelch like family member 11 gene DOID:630 genetic disease ISO RGD:1315423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243580 CDC23 cell division cycle 23 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1312484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12243580 CDC23 cell division cycle 23 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1312484 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12243580 CDC23 cell division cycle 23 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1312484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12243580 CDC23 cell division cycle 23 gene DOID:630 genetic disease ISO RGD:1312484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243580 CDC23 cell division cycle 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12243580 CDC23 cell division cycle 23 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312484 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12243600 NFKBIL1 NFKB inhibitor like 1 gene DOID:0050553 JMP syndrome ISO RGD:1351897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12243600 NFKBIL1 NFKB inhibitor like 1 gene DOID:11372 megacolon ISO RGD:1351897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12243600 NFKBIL1 NFKB inhibitor like 1 gene DOID:630 genetic disease ISO RGD:1351897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243600 NFKBIL1 NFKB inhibitor like 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1351897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis PMID:12509789 12243600 NFKBIL1 NFKB inhibitor like 1 gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1351897 D RGD:7240710 20190329 OMIM 12243617 DENND2C DENN domain containing 2C gene DOID:0080690 RASopathy ISO RGD:1604979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12243617 DENND2C DENN domain containing 2C gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1604979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 12243617 DENND2C DENN domain containing 2C gene DOID:630 genetic disease ISO RGD:1604979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243647 DMWD DM1 locus, WD repeat containing gene DOID:630 genetic disease ISO RGD:1346083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243655 SCN11A sodium voltage-gated channel alpha subunit 11 gene DOID:0050451 Brugada syndrome ISO RGD:1342640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 12243655 SCN11A sodium voltage-gated channel alpha subunit 11 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:735313 D RGD:9068941 20220825 MouseDO 12243655 SCN11A sodium voltage-gated channel alpha subunit 11 gene DOID:0070145 hereditary sensory and autonomic neuropathy type 5 ISO RGD:1342640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers PMID:24207120|PMID:25741868 12243655 SCN11A sodium voltage-gated channel alpha subunit 11 gene DOID:0070149 hereditary sensory and autonomic neuropathy type 7 ISO RGD:1342640 D RGD:7240710 20180130 OMIM 12243655 SCN11A sodium voltage-gated channel alpha subunit 11 gene DOID:0070149 hereditary sensory and autonomic neuropathy type 7 ISO RGD:1342640 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 7 PMID:16199547|PMID:17576681|PMID:24036948|PMID:24207120|PMID:24776970|PMID:25118027|PMID:25741868|PMID:25791876|PMID:26220970|PMID:26423924|PMID:26746779|PMID:27224030|PMID:27503742|PMID:27781142|PMID:28166811|PMID:28289907|PMID:28298626|PMID:28492532|PMID:29213238|PMID:29389947|PMID:29419974|PMID:30046661|PMID:30395542|PMID:30533233|PMID:30554136|PMID:30557356|PMID:32581362|PMID:34169998|PMID:9536098 12243655 SCN11A sodium voltage-gated channel alpha subunit 11 gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1342640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:24776970|PMID:25741868|PMID:28492532 12243655 SCN11A sodium voltage-gated channel alpha subunit 11 gene DOID:0111731 familial episodic pain syndrome 3 ISO RGD:1342640 D RGD:7240710 20180130 OMIM 12243655 SCN11A sodium voltage-gated channel alpha subunit 11 gene DOID:0111731 familial episodic pain syndrome 3 ISO RGD:1342640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Episodic pain syndrome, familial, 3 PMID:24207120|PMID:24776970|PMID:25741868|PMID:25791876|PMID:28298626|PMID:28492532|PMID:30046661|PMID:30554136|PMID:30557356 12243655 SCN11A sodium voltage-gated channel alpha subunit 11 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1342640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:16199547|PMID:24776970|PMID:25741868|PMID:25791876|PMID:28492532|PMID:29213238|PMID:30554136 12243655 SCN11A sodium voltage-gated channel alpha subunit 11 gene DOID:2491 sensory peripheral neuropathy ISO RGD:1342640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensory neuropathy PMID:28492532|PMID:32581362 12243655 SCN11A sodium voltage-gated channel alpha subunit 11 gene DOID:630 genetic disease ISO RGD:1342640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:24207120|PMID:24776970|PMID:25741868|PMID:25791876|PMID:28166811|PMID:28298626|PMID:28492532|PMID:29213238|PMID:30046661|PMID:30533233|PMID:30554136|PMID:30557356|PMID:32581362|PMID:34169998|PMID:9536098 12243655 SCN11A sodium voltage-gated channel alpha subunit 11 gene DOID:9002211 Hyperalgesia ISO RGD:1342640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23264124 12243655 SCN11A sodium voltage-gated channel alpha subunit 11 gene DOID:9008482 Congenital Pain Insensitivity ISO RGD:1342640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036948 12243655 SCN11A sodium voltage-gated channel alpha subunit 11 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1342640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1353888 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:0060249 scoliosis ISO RGD:1353888 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:0080001 bone disease ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9207788 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:0080205 CAKUT ISO RGD:1353888 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:28492532 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1353888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1353888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:13375 temporal arteritis ISO RGD:1353888 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:temporal artery,leukocytes, mononuclear PMID:21220737|REF_RGD_ID:6482238 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:1682 congenital heart disease ISO RGD:1353888 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Isolated Nonsyndromic Congenital Heart Disease PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:12497640|PMID:16575836|PMID:19948535|PMID:20437614|PMID:21752016|PMID:22040217|PMID:23956173|PMID:24033266|PMID:25260786|PMID:25326637|PMID:25741868|PMID:26760175|PMID:28372585|PMID:28492532|PMID:30074189|PMID:9585603 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:1682 congenital heart disease ISO RGD:1353888 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Isolated Nonsyndromic Congenital Heart Disease PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:12497640|PMID:16575836|PMID:19948535|PMID:20437614|PMID:21752016|PMID:22040217|PMID:23956173|PMID:24033266|PMID:25260786|PMID:25741868|PMID:26760175|PMID:28372585|PMID:28492532|PMID:30074189|PMID:9585603 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:1682 congenital heart disease ISO RGD:1353888 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Heart, malformation of | ClinVar Annotator: match by term: Isolated Nonsyndromic Congenital Heart Disease PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:12497640|PMID:16575836|PMID:19948535|PMID:20437614|PMID:21752016|PMID:22040217|PMID:23956173|PMID:24033266|PMID:25260786|PMID:25741868|PMID:26760175|PMID:28492532|PMID:9585603 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:2377 multiple sclerosis ISO RGD:1353888 D RGD:9068941 20200609 RGD PMID:16934875|REF_RGD_ID:6482240 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:2377 multiple sclerosis disease_progression ISO RGD:1353888 D RGD:9068941 20200609 RGD PMID:20805994|REF_RGD_ID:6482233 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:3068 glioblastoma ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:735466 D RGD:9068941 20200609 RGD protein:increased expression:spinal chord PMID:26067594|REF_RGD_ID:13524575 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:3571 liver cancer treatment ISO RGD:735466 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver PMID:25311838|REF_RGD_ID:14694834 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:3627 aortic aneurysm ISO RGD:1353888 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aortic dilatation PMID:25741868 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:3770 pulmonary fibrosis ISO RGD:2937 D RGD:9068941 20221201 RGD protein:increased expression:lung PMID:27982686|REF_RGD_ID:155663660 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:630 genetic disease ISO RGD:1353888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12497640|PMID:24033266|PMID:25741868|PMID:28492532 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1353888 D RGD:7240710 20180130 OMIM 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1353888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11152664|PMID:11157803|PMID:12442286|PMID:12497640|PMID:12649809|PMID:16575836|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:21752016|PMID:22040217|PMID:22487239|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25676721|PMID:25741868|PMID:26760175|PMID:28492532|PMID:30293987|PMID:32065591|PMID:33433009|PMID:9585603 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1353888 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:30660174|REF_RGD_ID:14694832 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:8398 osteoarthritis ISO RGD:1353888 D RGD:9068941 20200609 RGD PMID:18354251|REF_RGD_ID:6482239 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:8501 fundus dystrophy ISO RGD:1353888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11180599|PMID:28492532 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:8947 diabetic retinopathy ISO RGD:735466 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:retina: PMID:30787185|REF_RGD_ID:155663348 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:9001487 Facies ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9207787|PMID:9207788 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:9002114 Charcot-Marie-Tooth Disease Axonal Type 2HH ISO RGD:1353888 D RGD:7240710 20211110 OMIM 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:9002114 Charcot-Marie-Tooth Disease Axonal Type 2HH ISO RGD:1353888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2HH | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2HH | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2HH PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11157803|PMID:12442286|PMID:12497640|PMID:16575836|PMID:19948535|PMID:20301450|PMID:20437614|PMID:21752016|PMID:22040217|PMID:22487239|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25676721|PMID:25741868|PMID:26760175|PMID:28492532|PMID:32065591|PMID:9585603 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:9002457 Experimental Arthritis ISO RGD:735466 D RGD:9068941 20200609 RGD PMID:19265135|REF_RGD_ID:6482234 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:735466 D RGD:9068941 20200609 RGD PMID:17947672|REF_RGD_ID:6482235 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17804716 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:2937 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery PMID:21330605|REF_RGD_ID:6482230 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:9006190 Chronic Pancreatitis ISO RGD:1353888 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:pancreas PMID:17114010|REF_RGD_ID:6482236 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:9007096 Stroke ISO RGD:1353888 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28492532 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:9007573 Flatfoot ISO RGD:1353888 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: flatfoot PMID:25741868 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1353888 D RGD:9068941 20200609 RGD PMID:18691378|REF_RGD_ID:2299152 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:9007908 Aortic Coarctation ISO RGD:1353888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Midaortic syndrome PMID:10220506|PMID:11139247|PMID:11180599|PMID:16199547|PMID:24748328|PMID:28492532|PMID:29483232|PMID:30074189|PMID:31343788|PMID:34185059 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12022040|PMID:9207787|PMID:9207788 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:9008606 Corneal Opacity ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12022040 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:9008681 Deafness ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12022040 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:9008743 Deafness, Congenital Heart Defects, and Posterior Embryotoxon ISO RGD:1353888 D RGD:7240710 20210203 OMIM 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:9008743 Deafness, Congenital Heart Defects, and Posterior Embryotoxon ISO RGD:1353888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, congenital heart defects, and posterior embryotoxon PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11157803|PMID:12022040|PMID:12442286|PMID:12497640|PMID:16575836|PMID:19948535|PMID:20301450|PMID:20437614|PMID:21752016|PMID:22040217|PMID:22487239|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25676721|PMID:25741868|PMID:26760175|PMID:28492532|PMID:9585603 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:7240710 20180130 OMIM 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:12022040|PMID:12239725|PMID:12244555|PMID:12297837|PMID:12442286|PMID:12497640|PMID:12649809|PMID:15358557|PMID:15712272|PMID:15772854|PMID:16199547|PMID:16575836|PMID:16875832|PMID:17241866|PMID:17576681|PMID:17720887|PMID:17949281|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:20586101|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22487239|PMID:22488849|PMID:23891399|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25525159|PMID:25676721|PMID:25741868|PMID:26076142|PMID:26548814|PMID:26633542|PMID:26760175|PMID:27256232|PMID:27760138|PMID:28166811|PMID:28372585|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:29783821|PMID:30074189|PMID:30651579|PMID:31343788|PMID:31475041|PMID:33532864|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603|PMID:9700188 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:12239725|PMID:12244555|PMID:12297837|PMID:12497640|PMID:12649809|PMID:15712272|PMID:15772854|PMID:16199547|PMID:16575836|PMID:17241866|PMID:17576681|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:20586101|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:27760138|PMID:28372585|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:33433009|PMID:33532864|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:12239725|PMID:12244555|PMID:12297837|PMID:12497640|PMID:12649809|PMID:15712272|PMID:15772854|PMID:15990638|PMID:16199547|PMID:16575836|PMID:17241866|PMID:17576681|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:20586101|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:22759690|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25326637|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:27760138|PMID:28372585|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:33433009|PMID:33532864|PMID:34071626|PMID:34185059|PMID:34746741|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:12239725|PMID:12244555|PMID:12297837|PMID:12497640|PMID:12649809|PMID:15712272|PMID:15772854|PMID:15990638|PMID:16199547|PMID:16575836|PMID:17241866|PMID:17576681|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:20586101|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:22759690|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25326637|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:27760138|PMID:28372585|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:29707407|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:31595668|PMID:33433009|PMID:33532864|PMID:34071626|PMID:34185059|PMID:34746741|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:12239725|PMID:12244555|PMID:12297837|PMID:12497640|PMID:12649809|PMID:15712272|PMID:15772854|PMID:15990638|PMID:16199547|PMID:16575836|PMID:17241866|PMID:17576681|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:20586101|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:22759690|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:27760138|PMID:28372585|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:29707407|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:31595668|PMID:32065591|PMID:33433009|PMID:33532864|PMID:34071626|PMID:34185059|PMID:34746741|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:11259677|PMID:12239725|PMID:12244555|PMID:12442286|PMID:12497640|PMID:12649809|PMID:15358557|PMID:15712272|PMID:15772854|PMID:15990638|PMID:16199547|PMID:16575836|PMID:17241866|PMID:17576681|PMID:17720887|PMID:17949281|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:22759690|PMID:23891399|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25326637|PMID:25525159|PMID:25606387|PMID:25676721|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:26785492|PMID:27256232|PMID:27760138|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:29707407|PMID:29783821|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:31595668|PMID:32065591|PMID:33433009|PMID:33532864|PMID:34071626|PMID:34185059|PMID:34746741|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603|PMID:9700188 12243691 JAG1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:11259677|PMID:12239725|PMID:12244555|PMID:12442286|PMID:12497640|PMID:12649809|PMID:15358557|PMID:15712272|PMID:15772854|PMID:15990638|PMID:16199547|PMID:16575836|PMID:16875832|PMID:17241866|PMID:17576681|PMID:17720887|PMID:17949281|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:22759690|PMID:23891399|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25525159|PMID:25606387|PMID:25676721|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:26785492|PMID:27256232|PMID:27760138|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:29707407|PMID:29783821|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:31595668|PMID:32065591|PMID:32733715|PMID:33433009|PMID:33532864|PMID:34071626|PMID:34150014|PMID:34185059|PMID:34746741|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603|PMID:9700188 12243721 B3GNT4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 gene DOID:0110585 autosomal dominant nonsyndromic deafness 64 ISO RGD:1320043 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 64 PMID:25741868 12243721 B3GNT4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 gene DOID:630 genetic disease ISO RGD:1320043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243721 B3GNT4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 gene DOID:9004538 Hearing Loss ISO RGD:1320043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386 12243726 HSPB7 heat shock protein family B (small) member 7 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736091 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12243726 HSPB7 heat shock protein family B (small) member 7 gene DOID:13501 Moebius syndrome ISO RGD:736091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 12243726 HSPB7 heat shock protein family B (small) member 7 gene DOID:630 genetic disease ISO RGD:736091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243739 H1-6 H1.6 linker histone, cluster member gene DOID:630 genetic disease ISO RGD:737047 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243744 RFESD Rieske Fe-S domain containing gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605818 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12243744 RFESD Rieske Fe-S domain containing gene DOID:630 genetic disease ISO RGD:1605818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243744 RFESD Rieske Fe-S domain containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12243744 RFESD Rieske Fe-S domain containing gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605818 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12243755 PRR35 proline rich 35 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1602296 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12243755 PRR35 proline rich 35 gene DOID:1826 epilepsy ISO RGD:1602296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:24463883|PMID:25558065|PMID:28492532 12243755 PRR35 proline rich 35 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1602296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12243755 PRR35 proline rich 35 gene DOID:630 genetic disease ISO RGD:1602296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1345118 D RGD:9068941 20200609 RGD mRNA,protein:increased expression, increased activity:fibroblast PMID:23260200|REF_RGD_ID:10413908 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:0050700 cardiomyopathy ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:0080855 Parkinsonism ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17640816 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:0081292 traumatic brain injury ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829224|PMID:28642177 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:10534 stomach cancer treatment ISO RGD:1345118 D RGD:9068941 20210611 RGD human cells in a mouse model PMID:29408335|REF_RGD_ID:127284846 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:10534 stomach cancer treatment ISO RGD:1345118 D RGD:9068941 20210625 RGD human cells in mouse model PMID:32106377|REF_RGD_ID:127284886 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:1059 intellectual disability ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:22051244|REF_RGD_ID:5510011 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1551988 D RGD:9068941 20200609 RGD protein:increased activity:brain: PMID:21616968|REF_RGD_ID:10413888 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1345118 D RGD:9068941 20200609 RGD DNA:haplotypes: : PMID:17290104|REF_RGD_ID:10413885 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1345118 D RGD:9068941 20200609 RGD DNA:haplotypes:cds:rs1136410,rs1805404 (human) PMID:20486200|REF_RGD_ID:10413887 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:1074 kidney failure ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:19833176|REF_RGD_ID:10413912 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:10952 nephritis ISO RGD:1345118 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;DNA:SNPs:promoter, exon:-1963A>G, 28077G>A (human) PMID:16461442|REF_RGD_ID:1601085 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:19741160|REF_RGD_ID:5683903 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:11396 pulmonary edema ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11818323 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:127 leiomyoma treatment ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:21896544|REF_RGD_ID:10413890 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:12858 Huntington's disease ISO RGD:1345118 D RGD:9068941 20200609 RGD protein:increased expression:neuron,astrocyte: PMID:15668790|REF_RGD_ID:10413886 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:13088 periventricular leukomalacia ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:21596035|REF_RGD_ID:5683904 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:14115 toxic shock syndrome ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:12445868|REF_RGD_ID:10414070 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:14330 Parkinson's disease no_association ISO RGD:1345118 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:21767974|REF_RGD_ID:5510021 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1345118 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, exon:g.-410C>T, g.845_846dupAC (human) PMID:17362997|REF_RGD_ID:5510024 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1345118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:1790 malignant mesothelioma ISO RGD:1345118 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:21543585 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:1909 melanoma ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28759004 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:1936 atherosclerosis ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18093987|PMID:19124646 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:1936 atherosclerosis ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:18093987|REF_RGD_ID:5683916 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:2237 hepatitis ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:224 transient cerebral ischemia ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:19840223|REF_RGD_ID:2325713 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:19840223|REF_RGD_ID:2325713 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:2316 brain ischemia ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17640816 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:2355 anemia ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:2723 dermatitis ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:2841 asthma ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18261157 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:2841 asthma ISO RGD:1345118 D RGD:9068941 20200609 RGD protein:increased activation:lung, blood, mononuclear cell PMID:26205779|REF_RGD_ID:11073727 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:2841 asthma ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:12594058|REF_RGD_ID:5683910 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:2841 asthma treatment ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:26205779|REF_RGD_ID:11073727 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:2921 glomerulonephritis severity ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:19454727|REF_RGD_ID:5684011 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:3021 acute kidney failure ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:21884784|REF_RGD_ID:5510015 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:21311064|REF_RGD_ID:5683909 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:25882840|REF_RGD_ID:13792686 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:23801245|REF_RGD_ID:11073732 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:23143152|REF_RGD_ID:10054501 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27704718 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:23260200|REF_RGD_ID:10413908 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:417 autoimmune disease ISO RGD:1345118 D RGD:9068941 20200609 RGD coeliac disease PMID:16026592|REF_RGD_ID:1601087 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:4195 hyperglycemia susceptibility ISO RGD:1551988 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:10077636|REF_RGD_ID:1300264 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:4455 hereditary renal cell carcinoma ISO RGD:1345118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary renal cell carcinoma 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:4989 pancreatitis ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16127429 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:5082 liver cirrhosis ISO RGD:1345118 D RGD:9068941 20200609 RGD associated with Hepatitis B;mRNA:decreased expression:blood, mononuclear cell PMID:25755481|REF_RGD_ID:11073733 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:5154 borna disease ISO RGD:2053 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased activity:neuron, glial cell: PMID:18057239|REF_RGD_ID:2316738 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:5199 ureteral obstruction treatment ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:29781318|REF_RGD_ID:13782341 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:5517 stomach carcinoma susceptibility ISO RGD:1345118 D RGD:9068941 20200609 RGD DNA:snp:cds:p.V762A rs1136410 (human) PMID:18716896|REF_RGD_ID:5683907 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:552 pneumonia ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:557 kidney disease ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561897|PMID:21884784 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:5844 myocardial infarction ISO RGD:1551988 D RGD:9068941 20200609 RGD protein:altered processing:left ventricle (mouse) PMID:21282286|REF_RGD_ID:5684012 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:6000 congestive heart failure treatment ISO RGD:2053 D RGD:9068941 20200609 RGD associated with Hypertension PMID:19443425|REF_RGD_ID:11074236 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:630 genetic disease ISO RGD:1345118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18695907 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30354818 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:824 periodontitis ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:14630900|REF_RGD_ID:10413909 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:848 arthritis ISO RGD:1345118 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;DNA:SNPs:promoter, exon:-1963A>G, p.V762A (40329T>C) (human) PMID:16461442|REF_RGD_ID:1601085 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1345118 D RGD:9068941 20200609 RGD protein:increased expression:intestinal mucosa PMID:21399558|REF_RGD_ID:10413911 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:8677 perinatal necrotizing enterocolitis severity ISO RGD:2053 D RGD:9068941 20200609 RGD protein:increased expression:intestinal mucosa PMID:21399558|REF_RGD_ID:10413911 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15696051 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:21748659|REF_RGD_ID:10053608 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18093987|PMID:19124646 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9000310 Lung Injury ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16127429 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9000784 Fibrosis ISO RGD:1551988 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:21613422|REF_RGD_ID:5683902 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9000927 Alveolar Bone Loss ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:14630900|REF_RGD_ID:10413909 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9000998 Brain Injuries ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17640816 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1551988 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:20621183|REF_RGD_ID:11073737 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342424 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9002457 Experimental Arthritis severity ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:16356201|REF_RGD_ID:5684009 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9002514 Neointima ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:15044192|REF_RGD_ID:10413907 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9003358 Kyphosis ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15696051|PMID:16798486 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:9390645|REF_RGD_ID:5510018 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2053 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:21850691|REF_RGD_ID:5510020 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9004610 Acute Lung Injury ISO RGD:1551988 D RGD:9068941 20200609 RGD associated with Pancreatitis, Experimental, Acute PMID:16127429|REF_RGD_ID:11075069 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9004922 Spinal Cord Ischemia ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15696051 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:23404339|REF_RGD_ID:10053670 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9005246 Paralysis ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15696051 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9005372 Inflammation ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18261157 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:18657544|REF_RGD_ID:2312287 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:2053 D RGD:9068941 20200609 RGD protein:increased expression:blood vessel: PMID:15044192|REF_RGD_ID:10413907 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:16127429|REF_RGD_ID:11075069 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1345118 D RGD:9068941 20210604 CTD CTD Direct Evidence: therapeutic PMID:33771647 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:23598272|PMID:9670921|REF_RGD_ID:11073735|REF_RGD_ID:5683917 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27694308 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9008550 Vitamin A Deficiency ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18676402 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20941507 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:17182544|REF_RGD_ID:11074797 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345118 D RGD:9068941 20200609 RGD PMID:15895395|REF_RGD_ID:11075068 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9470 bacterial meningitis susceptibility ISO RGD:1345118 D RGD:9068941 20200609 RGD DNA:snp:cds:p.V762A rs1136410 (human) PMID:21651918|REF_RGD_ID:5683901 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9538 multiple myeloma ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21917757 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9743 diabetic neuropathy ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:17976390|PMID:21978940|REF_RGD_ID:5510012|REF_RGD_ID:5683915 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:987 alopecia ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 12243761 PARP1 poly(ADP-ribose) polymerase 1 gene DOID:9970 obesity ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 12243789 KRT39 keratin 39 gene DOID:630 genetic disease ISO RGD:1604916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243805 OR4Q3 olfactory receptor family 4 subfamily Q member 3 gene DOID:630 genetic disease ISO RGD:1344620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243811 MRPS22 mitochondrial ribosomal protein S22 gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1353996 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:28492532 12243811 MRPS22 mitochondrial ribosomal protein S22 gene DOID:0080499 ovarian dysgenesis 7 ISO RGD:1353996 D RGD:7240710 20190315 OMIM 12243811 MRPS22 mitochondrial ribosomal protein S22 gene DOID:0080499 ovarian dysgenesis 7 ISO RGD:1353996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 7 PMID:25741868|PMID:28492532|PMID:29566152|PMID:31042289 12243811 MRPS22 mitochondrial ribosomal protein S22 gene DOID:0111473 combined oxidative phosphorylation deficiency 5 ISO RGD:1353996 D RGD:7240710 20180130 OMIM 12243811 MRPS22 mitochondrial ribosomal protein S22 gene DOID:0111473 combined oxidative phosphorylation deficiency 5 ISO RGD:1353996 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypotonia with lactic acidemia and hyperammonemia PMID:17576681|PMID:17873122|PMID:18539099|PMID:21189481|PMID:25663021|PMID:25741868|PMID:28492532|PMID:28752220|PMID:29096039|PMID:31683770|PMID:9536098 12243811 MRPS22 mitochondrial ribosomal protein S22 gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1353996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 PMID:25741868 12243811 MRPS22 mitochondrial ribosomal protein S22 gene DOID:14450 46 XX gonadal dysgenesis ISO RGD:1353996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46 XX gonadal dysgenesis PMID:28492532|PMID:29566152 12243811 MRPS22 mitochondrial ribosomal protein S22 gene DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome ISO RGD:1353996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome 12243811 MRPS22 mitochondrial ribosomal protein S22 gene DOID:5426 primary ovarian insufficiency ISO RGD:1353996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:29566152|PMID:31042289 12243811 MRPS22 mitochondrial ribosomal protein S22 gene DOID:630 genetic disease ISO RGD:1353996 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12243811 MRPS22 mitochondrial ribosomal protein S22 gene DOID:9008540 46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs ISO RGD:1353996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46 XX gonadal dysgenesis PMID:28492532|PMID:29566152 12243811 MRPS22 mitochondrial ribosomal protein S22 gene DOID:9008939 Breast Neoplasms ISO RGD:1353996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12243827 AIP aryl hydrocarbon receptor interacting protein gene DOID:0112009 pituitary adenoma 1 ISO RGD:1354071 D RGD:7240710 20200826 OMIM 12243827 AIP aryl hydrocarbon receptor interacting protein gene DOID:0112009 pituitary adenoma 1 ISO RGD:1354071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PITUITARY ADENOMA 1, MULTIPLE TYPES PMID:16728643|PMID:17341560|PMID:17360484|PMID:18381572|PMID:19366855|PMID:20506337|PMID:20530095|PMID:21454441|PMID:21753072|PMID:22319033|PMID:22720333|PMID:23300914|PMID:23321498|PMID:23633209|PMID:24033266|PMID:25093619|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25741868|PMID:27153395|PMID:28492532|PMID:29074612|PMID:30461320|PMID:32324286 12243827 AIP aryl hydrocarbon receptor interacting protein gene DOID:1059 intellectual disability ISO RGD:1354071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12243827 AIP aryl hydrocarbon receptor interacting protein gene DOID:3946 pituitary-dependent Cushing's disease ISO RGD:1354071 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pituitary dependent hypercortisolism PMID:17360484|PMID:18381572|PMID:19366855|PMID:20506337|PMID:20530095|PMID:21454441|PMID:21753072|PMID:22319033|PMID:22720333|PMID:23300914|PMID:23321498|PMID:23633209|PMID:24033266|PMID:24050928|PMID:25093619|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25741868|PMID:27153395|PMID:28492532|PMID:29074612|PMID:30461320|PMID:32324286 12243827 AIP aryl hydrocarbon receptor interacting protein gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:1354071 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Somatotroph adenoma PMID:12213383|PMID:12810716|PMID:16728643|PMID:17242703|PMID:17244780|PMID:17299063|PMID:17341560|PMID:17360484|PMID:17371465|PMID:17576681|PMID:17609395|PMID:18381572|PMID:18410548|PMID:18484068|PMID:19366855|PMID:19474519|PMID:19556287|PMID:19684062|PMID:19955762|PMID:20354355|PMID:20457215|PMID:20506337|PMID:20507346|PMID:20530095|PMID:20570174|PMID:20595802|PMID:20685857|PMID:21208107|PMID:21340166|PMID:21348957|PMID:21454441|PMID:21512261|PMID:21753072|PMID:21984905|PMID:2200621|PMID:22287093|PMID:22319033|PMID:22720333|PMID:22915287|PMID:23038625|PMID:23038925|PMID:23300914|PMID:23321498|PMID:23371967|PMID:23633209|PMID:23743763|PMID:24033266|PMID:24050928|PMID:24078436|PMID:24423289|PMID:24789813|PMID:25019383|PMID:25093619|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25350067|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:27033541|PMID:27153395|PMID:27253664|PMID:27267386|PMID:27650164|PMID:28220018|PMID:28255869|PMID:28427099|PMID:28492532|PMID:28634279|PMID:29036195|PMID:29074612|PMID:29308445|PMID:29455389|PMID:29507682|PMID:29632148|PMID:29729370|PMID:30262796|PMID:30461320|PMID:30822274|PMID:30941100|PMID:32324286|PMID:34588620|PMID:35586626|PMID:5320367|PMID:9482716|PMID:9536098 12243827 AIP aryl hydrocarbon receptor interacting protein gene DOID:630 genetic disease ISO RGD:1354071 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243827 AIP aryl hydrocarbon receptor interacting protein gene DOID:657 adenoma ISO RGD:1354071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22975028 12243827 AIP aryl hydrocarbon receptor interacting protein gene DOID:7004 ACTH-secreting pituitary adenoma ISO RGD:1354071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PITUITARY ADENOMA 4, ACTH-SECRETING PMID:17360484|PMID:18381572|PMID:19366855|PMID:20506337|PMID:20530095|PMID:21454441|PMID:21753072|PMID:22319033|PMID:22720333|PMID:23300914|PMID:23321498|PMID:23633209|PMID:24033266|PMID:25093619|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25741868|PMID:27153395|PMID:28492532|PMID:29074612|PMID:30461320|PMID:32324286 12243827 AIP aryl hydrocarbon receptor interacting protein gene DOID:9001520 Symmetric Acroleukopathy ISO RGD:1354071 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acroleukopathy, symmetric PMID:22319033|PMID:23038625|PMID:25741868|PMID:26792934|PMID:27253664|PMID:28255869|PMID:28492532|PMID:29036195 12243827 AIP aryl hydrocarbon receptor interacting protein gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1354071 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12243827 AIP aryl hydrocarbon receptor interacting protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12213383|PMID:16728643|PMID:17242703|PMID:17244780|PMID:17360484|PMID:17371465|PMID:17576681|PMID:17609395|PMID:18381572|PMID:18484068|PMID:19366855|PMID:19474519|PMID:19556287|PMID:19684062|PMID:19955762|PMID:20354355|PMID:20457215|PMID:20506337|PMID:20507346|PMID:20530095|PMID:20595802|PMID:20833337|PMID:21208107|PMID:21340166|PMID:21348957|PMID:21454441|PMID:21512261|PMID:21753072|PMID:21984905|PMID:2200621|PMID:22287093|PMID:22319033|PMID:22720333|PMID:22915287|PMID:23038625|PMID:23038925|PMID:23300914|PMID:23321498|PMID:23371967|PMID:23633209|PMID:23743763|PMID:24033266|PMID:24050928|PMID:24078436|PMID:24423289|PMID:25019383|PMID:25093619|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25350067|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:27033541|PMID:27153395|PMID:27253664|PMID:27267386|PMID:27650164|PMID:28166811|PMID:28220018|PMID:28255869|PMID:28427099|PMID:28492532|PMID:28634279|PMID:29036195|PMID:29074612|PMID:29308445|PMID:29440248|PMID:29632148|PMID:29729370|PMID:30262796|PMID:30461320|PMID:32324286|PMID:5320367|PMID:9536098 12243827 AIP aryl hydrocarbon receptor interacting protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354071 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12213383|PMID:16728643|PMID:17242703|PMID:17244780|PMID:17360484|PMID:17371465|PMID:17576681|PMID:17609395|PMID:18381572|PMID:18484068|PMID:19366855|PMID:19474519|PMID:19556287|PMID:19684062|PMID:19955762|PMID:20354355|PMID:20457215|PMID:20506337|PMID:20507346|PMID:20530095|PMID:20595802|PMID:20833337|PMID:21208107|PMID:21340166|PMID:21348957|PMID:21454441|PMID:21512261|PMID:21753072|PMID:21984905|PMID:2200621|PMID:22287093|PMID:22319033|PMID:22720333|PMID:22915287|PMID:23038625|PMID:23038925|PMID:23300914|PMID:23321498|PMID:23371967|PMID:23633209|PMID:23743763|PMID:24033266|PMID:24050928|PMID:24078436|PMID:24423289|PMID:25019383|PMID:25093619|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25350067|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:27033541|PMID:27153395|PMID:27253664|PMID:27267386|PMID:27650164|PMID:28220018|PMID:28255869|PMID:28427099|PMID:28492532|PMID:28634279|PMID:29036195|PMID:29074612|PMID:29308445|PMID:29440248|PMID:29632148|PMID:29729370|PMID:30262796|PMID:30461320|PMID:32324286|PMID:5320367|PMID:9536098 12243827 AIP aryl hydrocarbon receptor interacting protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354071 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12213383|PMID:12810716|PMID:16728643|PMID:17242703|PMID:17244780|PMID:17360484|PMID:17371465|PMID:17576681|PMID:17609395|PMID:18381572|PMID:18410548|PMID:18484068|PMID:19366855|PMID:19474519|PMID:19556287|PMID:19684062|PMID:19955762|PMID:20354355|PMID:20457215|PMID:20506337|PMID:20507346|PMID:20530095|PMID:20595802|PMID:21208107|PMID:21340166|PMID:21348957|PMID:21454441|PMID:21512261|PMID:21753072|PMID:21984905|PMID:2200621|PMID:22287093|PMID:22319033|PMID:22720333|PMID:22915287|PMID:23038625|PMID:23038925|PMID:23300914|PMID:23321498|PMID:23371967|PMID:23633209|PMID:23743763|PMID:24033266|PMID:24050928|PMID:24078436|PMID:24423289|PMID:24789813|PMID:25019383|PMID:25093619|PMID:25136448|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25350067|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:27033541|PMID:27153395|PMID:27253664|PMID:27267386|PMID:27650164|PMID:28220018|PMID:28255869|PMID:28427099|PMID:28492532|PMID:28634279|PMID:29036195|PMID:29074612|PMID:29308445|PMID:29440248|PMID:29455389|PMID:29507682|PMID:29632148|PMID:29729370|PMID:30262796|PMID:30461320|PMID:30822274|PMID:30941100|PMID:32324286|PMID:33029249|PMID:35586626|PMID:5320367|PMID:9482716|PMID:9536098 12243827 AIP aryl hydrocarbon receptor interacting protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12213383|PMID:12810716|PMID:16199547|PMID:16728643|PMID:17242703|PMID:17244780|PMID:17360484|PMID:17371465|PMID:17576681|PMID:17609395|PMID:18381572|PMID:18410548|PMID:18484068|PMID:19366855|PMID:19474519|PMID:19556287|PMID:19684062|PMID:19955762|PMID:20354355|PMID:20457215|PMID:20506337|PMID:20507346|PMID:20530095|PMID:20595802|PMID:21208107|PMID:21340166|PMID:21348957|PMID:21454441|PMID:21512261|PMID:21753072|PMID:21984905|PMID:2200621|PMID:22287093|PMID:22319033|PMID:22720333|PMID:22915287|PMID:23038625|PMID:23038925|PMID:23300914|PMID:23321498|PMID:23371967|PMID:23633209|PMID:23743763|PMID:24033266|PMID:24050928|PMID:24078436|PMID:24423289|PMID:24789813|PMID:25019383|PMID:25093619|PMID:25136448|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25350067|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:27033541|PMID:27153395|PMID:27253664|PMID:27267386|PMID:27650164|PMID:28220018|PMID:28255869|PMID:28427099|PMID:28492532|PMID:28634279|PMID:29036195|PMID:29074612|PMID:29308445|PMID:29440248|PMID:29455389|PMID:29507682|PMID:29632148|PMID:29729370|PMID:30262796|PMID:30461320|PMID:30822274|PMID:30941100|PMID:32324286|PMID:32621582|PMID:33029249|PMID:34588620|PMID:35586626|PMID:5320367|PMID:9482716|PMID:9536098 12243827 AIP aryl hydrocarbon receptor interacting protein gene DOID:9007671 Familial Isolated Pituitary Adenoma ISO RGD:1354071 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Familial isolated pituitary adenoma PMID:16728643|PMID:17242703|PMID:17244780|PMID:17609395|PMID:18484068|PMID:19474519|PMID:20506337|PMID:21348957|PMID:21753072|PMID:22319033|PMID:22720333|PMID:22915287|PMID:24050928|PMID:25184284|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:28255869|PMID:28492532|PMID:29074612 12243827 AIP aryl hydrocarbon receptor interacting protein gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1354071 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12243851 PITHD1 PITH domain containing 1 gene DOID:630 genetic disease ISO RGD:1603974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243851 PITHD1 PITH domain containing 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1603974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12243861 MAGEL2 MAGE family member L2 gene DOID:0060041 autism spectrum disorder ISO RGD:1320098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 12243861 MAGEL2 MAGE family member L2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1320098 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 12243861 MAGEL2 MAGE family member L2 gene DOID:0111715 Schaaf-Yang syndrome ISO RGD:1320098 D RGD:7240710 20180130 OMIM 12243861 MAGEL2 MAGE family member L2 gene DOID:0111715 Schaaf-Yang syndrome ISO RGD:1320098 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Schaaf-Yang syndrome PMID:24076603|PMID:24088041|PMID:25326635|PMID:25473036|PMID:25590979|PMID:25741868|PMID:26365340|PMID:26633545|PMID:27195816|PMID:27632685|PMID:28281571|PMID:28492532|PMID:29581464|PMID:29599419|PMID:29660409|PMID:30302899|PMID:31152388|PMID:31397880|PMID:31680349|PMID:32860008|PMID:33371171 12243861 MAGEL2 MAGE family member L2 gene DOID:1059 intellectual disability ISO RGD:1320098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12243861 MAGEL2 MAGE family member L2 gene DOID:11983 Prader-Willi syndrome ISO RGD:1320098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:25741868|PMID:27195816|PMID:28281571|PMID:28492532|PMID:28631899 12243861 MAGEL2 MAGE family member L2 gene DOID:12849 autistic disorder ISO RGD:1320098 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:28492532|PMID:30208311|PMID:31690835 12243861 MAGEL2 MAGE family member L2 gene DOID:1826 epilepsy ISO RGD:1320098 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12243861 MAGEL2 MAGE family member L2 gene DOID:1923 disorder of sexual development ISO RGD:1320098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ambiguous genitalia PMID:24076603|PMID:25741868|PMID:26365340|PMID:27195816|PMID:28492532|PMID:30302899|PMID:31152388|PMID:31680349 12243861 MAGEL2 MAGE family member L2 gene DOID:1932 Angelman syndrome ISO RGD:1320098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:26633545 12243861 MAGEL2 MAGE family member L2 gene DOID:5419 schizophrenia ISO RGD:1320098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12243861 MAGEL2 MAGE family member L2 gene DOID:630 genetic disease ISO RGD:1320098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28281571|PMID:28492532|PMID:29581464|PMID:29599419|PMID:29660409|PMID:30302899|PMID:30323850 12243861 MAGEL2 MAGE family member L2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320098 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:29660409|PMID:30302899 12243861 MAGEL2 MAGE family member L2 gene DOID:9008582 Developmental Disease ISO RGD:1320098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12243870 KRTAP11-1 keratin associated protein 11-1 gene DOID:630 genetic disease ISO RGD:1350814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243878 MYO19 myosin XIX gene DOID:0060041 autism spectrum disorder ISO RGD:1352895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 12243878 MYO19 myosin XIX gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1352895 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 12243878 MYO19 myosin XIX gene DOID:12849 autistic disorder ISO RGD:1352895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12243878 MYO19 myosin XIX gene DOID:5419 schizophrenia ISO RGD:1352895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12243878 MYO19 myosin XIX gene DOID:630 genetic disease ISO RGD:1352895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30679815 12243878 MYO19 myosin XIX gene DOID:674 cleft palate ISO RGD:1352895 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:25741868|PMID:28492532 12243878 MYO19 myosin XIX gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12243878 MYO19 myosin XIX gene DOID:9006834 Glycosylphosphatidylinositol Deficiency ISO RGD:1352895 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 PMID:25741868 12243878 MYO19 myosin XIX gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1352895 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:24367057|PMID:25741868|PMID:27626616|PMID:28492532|PMID:30679815|PMID:30813920|PMID:32198969|PMID:32466763 12243878 MYO19 myosin XIX gene DOID:9008086 Developmental Disabilities ISO RGD:1352895 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 12243916 SLC2A6 solute carrier family 2 member 6 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1319599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12243916 SLC2A6 solute carrier family 2 member 6 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12243916 SLC2A6 solute carrier family 2 member 6 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1319599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12243916 SLC2A6 solute carrier family 2 member 6 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12243916 SLC2A6 solute carrier family 2 member 6 gene DOID:0081097 Rafiq syndrome ISO RGD:1319599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12243916 SLC2A6 solute carrier family 2 member 6 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1319599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12243916 SLC2A6 solute carrier family 2 member 6 gene DOID:3652 Leigh disease ISO RGD:1319599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12243916 SLC2A6 solute carrier family 2 member 6 gene DOID:630 genetic disease ISO RGD:1319599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243930 PPP1R1A protein phosphatase 1 regulatory inhibitor subunit 1A gene DOID:0050700 cardiomyopathy ISO RGD:737038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20071777 12243930 PPP1R1A protein phosphatase 1 regulatory inhibitor subunit 1A gene DOID:6000 congestive heart failure ISO RGD:737038 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20071777 12243930 PPP1R1A protein phosphatase 1 regulatory inhibitor subunit 1A gene DOID:630 genetic disease ISO RGD:737038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12243930 PPP1R1A protein phosphatase 1 regulatory inhibitor subunit 1A gene DOID:684 hepatocellular carcinoma ISO RGD:737038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15010824 12243930 PPP1R1A protein phosphatase 1 regulatory inhibitor subunit 1A gene DOID:9000064 Cardiac Arrhythmias ISO RGD:737038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20071777 12243939 ARL3 ADP ribosylation factor like GTPase 3 gene DOID:0110415 retinitis pigmentosa 2 ISO RGD:737247 D RGD:9068941 20220825 MouseDO OMIM:312600 12243939 ARL3 ADP ribosylation factor like GTPase 3 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:737247 D RGD:9068941 20220825 MouseDO OMIM:263200 12243939 ARL3 ADP ribosylation factor like GTPase 3 gene DOID:0112140 retinitis pigmentosa 83 ISO RGD:734227 D RGD:7240710 20190315 OMIM 12243939 ARL3 ADP ribosylation factor like GTPase 3 gene DOID:0112140 retinitis pigmentosa 83 ISO RGD:734227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 83 PMID:25741868|PMID:26964041|PMID:28492532|PMID:30932721 12243939 ARL3 ADP ribosylation factor like GTPase 3 gene DOID:10584 retinitis pigmentosa ISO RGD:734227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:33748123 12243939 ARL3 ADP ribosylation factor like GTPase 3 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:734227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:22508808|PMID:25403219|PMID:28492532|PMID:31639285 12243939 ARL3 ADP ribosylation factor like GTPase 3 gene DOID:630 genetic disease ISO RGD:734227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12243939 ARL3 ADP ribosylation factor like GTPase 3 gene DOID:9001060 JOUBERT SYNDROME 35 ISO RGD:734227 D RGD:7240710 20190315 OMIM 12243939 ARL3 ADP ribosylation factor like GTPase 3 gene DOID:9001060 JOUBERT SYNDROME 35 ISO RGD:734227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 35 PMID:25741868|PMID:28492532|PMID:30269812 12243956 ZNF544 zinc finger protein 544 gene DOID:630 genetic disease ISO RGD:1345922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244017 DSG3 desmoglein 3 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1348238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:28492532 12244017 DSG3 desmoglein 3 gene DOID:0060851 pemphigus vulgaris ISO RGD:1620126 D RGD:9068941 20220825 MouseDO OMIM:169610 12244017 DSG3 desmoglein 3 gene DOID:1059 intellectual disability ISO RGD:1348238 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12244017 DSG3 desmoglein 3 gene DOID:630 genetic disease ISO RGD:1348238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244017 DSG3 desmoglein 3 gene DOID:9005119 BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA ISO RGD:1348238 D RGD:7240710 20210407 OMIM 12244017 DSG3 desmoglein 3 gene DOID:9005119 BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA ISO RGD:1348238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blistering, acantholytic, of oral and laryngeal mucosa PMID:30528827 12244037 ZC3H6 zinc finger CCCH-type containing 6 gene DOID:630 genetic disease ISO RGD:1322317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244053 IMPA1 inositol monophosphatase 1 gene DOID:0081221 autosomal recessive intellectual developmental disorder 59 ISO RGD:737559 D RGD:7240710 20190315 OMIM 12244053 IMPA1 inositol monophosphatase 1 gene DOID:0081221 autosomal recessive intellectual developmental disorder 59 ISO RGD:737559 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 59 PMID:25741868|PMID:26416544|PMID:32839513 12244053 IMPA1 inositol monophosphatase 1 gene DOID:1059 intellectual disability ISO RGD:737559 D RGD:9068941 20210416 RGD DNA:frameshift mutation:CDS:c.489_493dupGGGCT (human) PMID:26416544|REF_RGD_ID:126781710 12244053 IMPA1 inositol monophosphatase 1 gene DOID:630 genetic disease ISO RGD:737559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12244053 IMPA1 inositol monophosphatase 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:737560 D RGD:9068941 20210416 RGD PMID:30604625|REF_RGD_ID:126781711 12244070 VBP1 VHL binding protein 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1352433 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12244070 VBP1 VHL binding protein 1 gene DOID:0050476 Barth syndrome ISO RGD:1352433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12244070 VBP1 VHL binding protein 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1352433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12244070 VBP1 VHL binding protein 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1352433 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12244070 VBP1 VHL binding protein 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1352433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12244070 VBP1 VHL binding protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1352433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12244070 VBP1 VHL binding protein 1 gene DOID:12849 autistic disorder ISO RGD:1352433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12244070 VBP1 VHL binding protein 1 gene DOID:13628 favism ISO RGD:1352433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12244070 VBP1 VHL binding protein 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1352433 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12244070 VBP1 VHL binding protein 1 gene DOID:3070 high grade glioma ISO RGD:1352433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12244070 VBP1 VHL binding protein 1 gene DOID:607 paraplegia ISO RGD:1352433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12244070 VBP1 VHL binding protein 1 gene DOID:630 genetic disease ISO RGD:1352433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244070 VBP1 VHL binding protein 1 gene DOID:9002720 Splenomegaly ISO RGD:1352433 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12244083 CCDC12 coiled-coil domain containing 12 gene DOID:0111044 gray platelet syndrome ISO RGD:1343271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gray platelet syndrome 12244083 CCDC12 coiled-coil domain containing 12 gene DOID:630 genetic disease ISO RGD:1343271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244083 CCDC12 coiled-coil domain containing 12 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1343271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12244096 VPS18 VPS18 core subunit of CORVET and HOPS complexes gene DOID:2717 Bloom syndrome ISO RGD:1323077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12244096 VPS18 VPS18 core subunit of CORVET and HOPS complexes gene DOID:630 genetic disease ISO RGD:1323077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244096 VPS18 VPS18 core subunit of CORVET and HOPS complexes gene DOID:9256 colorectal cancer ISO RGD:1323077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12244105 MAIP1 matrix AAA peptidase interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12244114 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:0050765 neuroacanthocytosis ISO RGD:1351512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11761473|PMID:8619554 12244114 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12244114 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1351512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:20729109|PMID:22929960|PMID:27701760|PMID:28492532|PMID:8634410|PMID:9585602 12244114 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1351512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 12244114 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1351512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase 12244114 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:0112107 McLeod syndrome ISO RGD:1351512 D RGD:7240710 20180130 OMIM 12244114 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:0112107 McLeod syndrome ISO RGD:1351512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome PMID:10426139|PMID:11261514|PMID:11703337|PMID:11761473|PMID:11961232|PMID:13860532|PMID:17133513|PMID:17302777|PMID:25741868|PMID:28492532|PMID:30800707|PMID:8004674|PMID:8619554 12244114 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:12849 autistic disorder ISO RGD:1351512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12244114 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:150 disease of mental health ISO RGD:1351512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11261514 12244114 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:440 neuromuscular disease ISO RGD:1351512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8004674|PMID:8619554 12244114 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:480 movement disease ISO RGD:1351512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11261514 12244114 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:574 peripheral nervous system disease ISO RGD:1351512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11761473 12244114 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:630 genetic disease ISO RGD:1351512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12244114 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:74 hematopoietic system disease ISO RGD:1351512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8004674|PMID:8619554 12244114 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:74 hematopoietic system disease ISO RGD:1351512 D RGD:9068941 20200609 RGD McLeod syndrome, OMIM:314850 PMID:8004674|REF_RGD_ID:1354522 12244114 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12244114 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1351512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16786505|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 12244114 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12244121 SAAL1 serum amyloid A like 1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1606985 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 12244121 SAAL1 serum amyloid A like 1 gene DOID:1059 intellectual disability ISO RGD:1606985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12244121 SAAL1 serum amyloid A like 1 gene DOID:630 genetic disease ISO RGD:1606985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244137 PLP2 proteolipid protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12244137 PLP2 proteolipid protein 2 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1349250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12244137 PLP2 proteolipid protein 2 gene DOID:0080600 COVID-19 ISO RGD:1349250 D RGD:9068941 20211217 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12244137 PLP2 proteolipid protein 2 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1349250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12244137 PLP2 proteolipid protein 2 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1349250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12244137 PLP2 proteolipid protein 2 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1349250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12244137 PLP2 proteolipid protein 2 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1349250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12244137 PLP2 proteolipid protein 2 gene DOID:12849 autistic disorder ISO RGD:1349250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12244137 PLP2 proteolipid protein 2 gene DOID:630 genetic disease ISO RGD:1349250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244139 TLR8 toll like receptor 8 gene DOID:0050777 Joubert syndrome ISO RGD:1605396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 12244139 TLR8 toll like receptor 8 gene DOID:11168 anogenital venereal wart ISO RGD:1605396 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 12244139 TLR8 toll like receptor 8 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1605396 D RGD:9068941 20200609 RGD associated with Bronchiolitis; mRNA:increased expression:nasopharynx (human) PMID:19386802|REF_RGD_ID:5129471 12244139 TLR8 toll like receptor 8 gene DOID:12849 autistic disorder ISO RGD:1605396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12244139 TLR8 toll like receptor 8 gene DOID:1883 hepatitis C ISO RGD:1605396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27385120 12244139 TLR8 toll like receptor 8 gene DOID:2773 contact dermatitis ISO RGD:1605396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12244139 TLR8 toll like receptor 8 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1620654 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (mouse) PMID:18256364|REF_RGD_ID:7246909 12244139 TLR8 toll like receptor 8 gene DOID:630 genetic disease ISO RGD:1605396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12244139 TLR8 toll like receptor 8 gene DOID:718 autoimmune hemolytic anemia ISO RGD:1605396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune hemolytic anemia PMID:25741868|PMID:33512449|PMID:34981838 12244139 TLR8 toll like receptor 8 gene DOID:8398 osteoarthritis ISO RGD:1605396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteoarthritis 12244139 TLR8 toll like receptor 8 gene DOID:9004058 Immunodeficiency 98 with Autoinflammation, X-Linked ISO RGD:1605396 D RGD:7240710 20220427 OMIM 12244139 TLR8 toll like receptor 8 gene DOID:9004058 Immunodeficiency 98 with Autoinflammation, X-Linked ISO RGD:1605396 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Immunodeficiency 98 with autoinflammation, X-linked PMID:25741868|PMID:28492532|PMID:33512449|PMID:34981838 12244139 TLR8 toll like receptor 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12244150 CENPE centromere protein E gene DOID:0070283 primary autosomal recessive microcephaly 13 ISO RGD:1316119 D RGD:7240710 20180130 OMIM 12244150 CENPE centromere protein E gene DOID:0070283 primary autosomal recessive microcephaly 13 ISO RGD:1316119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 13, primary, autosomal recessive PMID:24748105|PMID:25741868 12244150 CENPE centromere protein E gene DOID:12849 autistic disorder ISO RGD:1316119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12244150 CENPE centromere protein E gene DOID:3633 beta-mannosidosis ISO RGD:1316119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 12244150 CENPE centromere protein E gene DOID:630 genetic disease ISO RGD:1316119 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12244150 CENPE centromere protein E gene DOID:684 hepatocellular carcinoma ISO RGD:1316119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12244264 OCLN occludin gene DOID:0050656 pseudo-TORCH syndrome 1 ISO RGD:732985 D RGD:7240710 20180130 OMIM 12244264 OCLN occludin gene DOID:0050656 pseudo-TORCH syndrome 1 ISO RGD:732985 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pseudo-TORCH syndrome 1 PMID:18414213|PMID:19012351|PMID:20727516|PMID:25741868|PMID:28492532 12244264 OCLN occludin gene DOID:0080177 hepatic veno-occlusive disease ISO RGD:732985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17015055 12244264 OCLN occludin gene DOID:0081292 traumatic brain injury ISO RGD:732985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25668593 12244264 OCLN occludin gene DOID:10825 essential hypertension ISO RGD:732985 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 12244264 OCLN occludin gene DOID:13938 amenorrhea ISO RGD:732985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12244264 OCLN occludin gene DOID:14566 disease of cellular proliferation ISO RGD:732985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16982755 12244264 OCLN occludin gene DOID:3021 acute kidney failure ISO RGD:732985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19766176 12244264 OCLN occludin gene DOID:4481 allergic rhinitis ISO RGD:732985 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:33441633 12244264 OCLN occludin gene DOID:5679 retinal disease ISO RGD:732985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19324842 12244264 OCLN occludin gene DOID:630 genetic disease ISO RGD:732985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28386946|PMID:28492532 12244264 OCLN occludin gene DOID:8778 Crohn's disease ISO RGD:732985 D RGD:9068941 20200609 RGD PMID:21748286|REF_RGD_ID:11341809 12244264 OCLN occludin gene DOID:8947 diabetic retinopathy treatment ISO RGD:620089 D RGD:9068941 20200609 RGD PMID:25685822|REF_RGD_ID:11341734 12244264 OCLN occludin gene DOID:9002720 Splenomegaly ISO RGD:732985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17015055 12244264 OCLN occludin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12244264 OCLN occludin gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 12244264 OCLN occludin gene DOID:9007730 Burns ISO RGD:620089 D RGD:9068941 20200609 RGD associated with Binge Drinking;protein:decreased expression, decreased tyrosine, threonine phosphorylation:intestine mucosa: PMID:22001439|REF_RGD_ID:8655996 12244264 OCLN occludin gene DOID:9008086 Developmental Disabilities ISO RGD:732985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 12244264 OCLN occludin gene DOID:9008939 Breast Neoplasms ISO RGD:732985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17459053|PMID:24014025 12244276 PNN pinin, desmosome associated protein gene DOID:630 genetic disease ISO RGD:1313105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244276 PNN pinin, desmosome associated protein gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1313105 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16497974 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:0050685 small cell carcinoma ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15981204 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:737482 D RGD:9068941 20220721 RGD protein:increased expression:oral cavity (human) PMID:20967871|REF_RGD_ID:152999012 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:737482 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:16421596|REF_RGD_ID:2293106 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:0060108 brain glioma exacerbates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:brain (human) PMID:31964418|REF_RGD_ID:153344516 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27770503 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:0080365 endometrial hyperplasia ISO RGD:737482 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:16803539|REF_RGD_ID:2298940 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:0080600 COVID-19 ISO RGD:737482 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:70499 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:12604914|REF_RGD_ID:2293139 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:10283 prostate cancer ISO RGD:737482 D RGD:9068941 20200609 RGD PMID:17804712|REF_RGD_ID:2293100 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:10283 prostate cancer severity ISO RGD:737482 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:18336887|REF_RGD_ID:2293091 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:11054 urinary bladder cancer ISO RGD:732772 D RGD:9068941 20200609 RGD PMID:18089718|REF_RGD_ID:2293094 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:737482 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:17905101|REF_RGD_ID:2293096 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:1749 squamous cell carcinoma ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:2671 transitional cell carcinoma ISO RGD:737482 D RGD:9068941 20200609 RGD PMID:18172282|REF_RGD_ID:2293093 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:2671 transitional cell carcinoma ISO RGD:737482 D RGD:9068941 20200609 RGD mRNA:increased expression:urine PMID:17559031|REF_RGD_ID:2298937 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:737482 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:17828507|REF_RGD_ID:2293099 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:289 endometriosis ISO RGD:70499 D RGD:9068941 20200609 RGD PMID:18386577|REF_RGD_ID:2293122 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:2913 acute pancreatitis ISO RGD:70499 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:pancreas PMID:19726343|REF_RGD_ID:9586043 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:299 adenocarcinoma ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:3070 high grade glioma ISO RGD:70499 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17701349|REF_RGD_ID:2293131 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:3275 thymoma ameliorates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:thymus (human) PMID:31964418|REF_RGD_ID:153344516 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:3459 breast carcinoma exacerbates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:breast (human) PMID:31964418|REF_RGD_ID:153344516 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:lung (human) PMID:31964418|REF_RGD_ID:153344516 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:3908 lung non-small cell carcinoma ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16382892 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:lung (human) PMID:31964418|REF_RGD_ID:153344516 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:lung (human) PMID:31964418|REF_RGD_ID:153344516 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:3948 adrenocortical carcinoma exacerbates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland (human) PMID:31964418|REF_RGD_ID:153344516 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:3963 thyroid gland carcinoma exacerbates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:thyroid gland (human) PMID:31964418|REF_RGD_ID:153344516 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:4006 bladder urothelial carcinoma disease_progression ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:urinary bladder (human) PMID:31964418|REF_RGD_ID:153344516 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:4074 pancreatic adenocarcinoma exacerbates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:pancreas (human) PMID:31964418|REF_RGD_ID:153344516 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:4450 renal cell carcinoma ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16188142 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:4450 renal cell carcinoma ISO RGD:737482 D RGD:9068941 20200609 RGD mRNA:splice variant PMID:12115583|REF_RGD_ID:2293108 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:737482 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17363528|REF_RGD_ID:2293102 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:4465 papillary renal cell carcinoma disease_progression ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:4467 clear cell renal cell carcinoma exacerbates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:4471 chromophobe renal cell carcinoma exacerbates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:5517 stomach carcinoma ISO RGD:70499 D RGD:9068941 20200609 RGD protein:increased expression:stomach PMID:12854136|REF_RGD_ID:2293138 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:5844 myocardial infarction ISO RGD:70499 D RGD:9068941 20200609 RGD PMID:15081314|REF_RGD_ID:2293137 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:6000 congestive heart failure ISO RGD:70499 D RGD:9068941 20200609 RGD associated with Hypertension;protein:decreased expression:cardiac muscle cell PMID:16257070|REF_RGD_ID:2293134 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:630 genetic disease ISO RGD:737482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:6432 pulmonary hypertension ISO RGD:737482 D RGD:9068941 20200609 RGD protein:increased expression:pulmonary artery PMID:15931388|REF_RGD_ID:2293135 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:684 hepatocellular carcinoma ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16086872|PMID:20514400 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:liver (human) PMID:31964418|REF_RGD_ID:153344516 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:7474 malignant pleural mesothelioma exacerbates ISO RGD:737482 D RGD:9068941 20220825 RGD mRNA:increased expression:pleura, lung (human) PMID:17253596|REF_RGD_ID:153344528 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:8552 chronic myeloid leukemia ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16254145 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16166298 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9000081 Lymphatic Metastasis ISO RGD:737482 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms;mRNA:splice variant PMID:17877643|REF_RGD_ID:2293098 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:737482 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:17285241|REF_RGD_ID:2293103 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15993841 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9000300 Refractory Anemia ISO RGD:737482 D RGD:9068941 20200609 RGD PMID:18426652|REF_RGD_ID:11038658 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:737482 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17441339|REF_RGD_ID:2298939 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9000998 Brain Injuries ISO RGD:70499 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain, astrocyte, neuron PMID:15453988|REF_RGD_ID:2293136 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70499 D RGD:9068941 20200609 RGD PMID:17938867|REF_RGD_ID:2293129 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:70499 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:18246794|REF_RGD_ID:2293125 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9002265 Kidney Neoplasms disease_progression ISO RGD:737482 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:11150435|REF_RGD_ID:2293109 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29541389 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15970709|PMID:16202317|PMID:16211241|PMID:18567002 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:737482 D RGD:9068941 20200609 RGD PMID:18171606|PMID:18567002|REF_RGD_ID:2298935|REF_RGD_ID:2298936 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9002928 Colonic Neoplasms ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16224667|PMID:19147571 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737482 D RGD:9068941 20200609 RGD PMID:17364499|REF_RGD_ID:2293101 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737482 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:17877643|REF_RGD_ID:2293098 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:737482 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17890889|REF_RGD_ID:2293097 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9003566 Mesothelioma exacerbates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:mesothelium (human) PMID:31964418|REF_RGD_ID:153344516 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9003654 Testicular Germ Cell Tumor exacerbates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:testis (human) PMID:31964418|REF_RGD_ID:153344516 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9004009 Reperfusion Injury ISO RGD:70499 D RGD:9068941 20200609 RGD PMID:18053646|REF_RGD_ID:2293127 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9004009 Reperfusion Injury ISO RGD:70499 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:18159002|REF_RGD_ID:2293126 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:737482 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:16803539|REF_RGD_ID:2298940 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:737482 D RGD:9068941 20200609 RGD mRNA:increased expression:urine PMID:18055328|REF_RGD_ID:2293095 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9005172 Lung Neoplasms ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15981204|PMID:16108013 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9005969 Refractory Anemia with Excess of Blasts ISO RGD:737482 D RGD:9068941 20200609 RGD PMID:18426652|REF_RGD_ID:11038658 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9007715 Endometrial Neoplasms ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363521 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16364925 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9008939 Breast Neoplasms ISO RGD:737482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16322251|PMID:16818634 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:737482 D RGD:9068941 20200609 RGD PMID:17240580|PMID:18451232|REF_RGD_ID:2293090|REF_RGD_ID:2293104 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:737482 D RGD:9068941 20200609 RGD mRNA:increased expression:blood PMID:17086357|REF_RGD_ID:2293105 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:737482 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:18227733|REF_RGD_ID:2293092 12244289 BIRC5 baculoviral IAP repeat containing 5 gene DOID:9256 colorectal cancer ISO RGD:737482 D RGD:9068941 20220825 RGD mRNA, protein:increased expression:colonic mucosa (human) PMID:27827395|REF_RGD_ID:153344527 12244289 Birc5 baculoviral IAP repeat-containing 5 gene DOID:6432 pulmonary hypertension ISO RGD:70499 D RGD:9068941 20200609 RGD protein:increased expression:pulmonary artery PMID:15931388|REF_RGD_ID:2293135 12244297 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:0050332 enlarged vestibular aqueduct ISO RGD:1321628 D RGD:9068941 20220825 MouseDO OMIM:600791 12244297 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:0050439 Usher syndrome ISO RGD:1321627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:30311386 12244297 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1321628 D RGD:9068941 20220825 MouseDO OMIM:607197 12244297 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:12679 nephrocalcinosis ISO RGD:1321627 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:12414817|PMID:16769747|PMID:18368028|PMID:22509993|PMID:25741868|PMID:28233610|PMID:28492532|PMID:28893421|PMID:31959358|PMID:9916796 12244297 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:14219 renal tubular acidosis ISO RGD:1321627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis | ClinVar Annotator: match by term: Renal tubular acidosis PMID:12414817|PMID:16611712|PMID:16769747|PMID:18368028|PMID:19364879|PMID:22509993|PMID:23923981|PMID:25741868|PMID:26571219|PMID:27247958|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28893421|PMID:31959358|PMID:9916796 12244297 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:14219 renal tubular acidosis susceptibility ISO RGD:1321627 D RGD:9068941 20200609 RGD DNA:mutation;associated with Hearing Loss, Sensorineural PMID:9916796|REF_RGD_ID:1599372 12244297 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:543 dystonia ISO RGD:1321627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12244297 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:630 genetic disease ISO RGD:1321627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12566520|PMID:17669226|PMID:18368028|PMID:23923981|PMID:24033266|PMID:25285676|PMID:25498251|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34159584|PMID:9916796 12244297 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1321627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12244297 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:9000683 Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness ISO RGD:1321627 D RGD:7240710 20190315 OMIM 12244297 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:9000683 Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness ISO RGD:1321627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal tubular acidosis with progressive nerve deafness PMID:12414817|PMID:12566520|PMID:12579397|PMID:16199547|PMID:16433694|PMID:16611712|PMID:16769747|PMID:17669226|PMID:18368028|PMID:18798332|PMID:20805693|PMID:21614596|PMID:22509993|PMID:22966473|PMID:23923981|PMID:24033266|PMID:24448499|PMID:24975934|PMID:25164082|PMID:25285676|PMID:25296721|PMID:25498251|PMID:25741868|PMID:26453614|PMID:26467025|PMID:27247958|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28893421|PMID:29310826|PMID:29627839|PMID:30076350|PMID:30311386|PMID:30558562|PMID:31949730|PMID:31959358|PMID:34159584|PMID:35738466|PMID:8651253|PMID:9916796 12244297 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1321627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 PMID:16199547|PMID:16611712|PMID:18368028|PMID:25285676|PMID:28492532|PMID:31549751|PMID:31733597|PMID:9916796 12244297 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:9004538 Hearing Loss ISO RGD:1321627 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:16769747|PMID:18368028|PMID:24033266|PMID:25741868|PMID:30311386|PMID:9916796 12244297 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:9004538 Hearing Loss ISO RGD:1321627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:16769747|PMID:18368028|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:34159584|PMID:9916796 12244297 ATP6V1B1 ATPase H+ transporting V1 subunit B1 gene DOID:9007406 Distal Renal Tubular Acidosis ISO RGD:1321627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:12414817|PMID:16611712|PMID:16769747|PMID:18368028|PMID:22509993|PMID:23923981|PMID:25741868|PMID:27247958|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28893421|PMID:31959358|PMID:9916796 12244316 CAP1 cyclase associated actin cytoskeleton regulatory protein 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1349457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12244316 CAP1 cyclase associated actin cytoskeleton regulatory protein 1 gene DOID:11476 osteoporosis ISO RGD:1349457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12244316 CAP1 cyclase associated actin cytoskeleton regulatory protein 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1349457 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:19188911|REF_RGD_ID:2326238 12244316 CAP1 cyclase associated actin cytoskeleton regulatory protein 1 gene DOID:630 genetic disease ISO RGD:1349457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244316 CAP1 cyclase associated actin cytoskeleton regulatory protein 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349457 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms; mRNA, protein:increased expression:pancreas PMID:19188911|REF_RGD_ID:2326238 12244316 CAP1 cyclase associated actin cytoskeleton regulatory protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12244351 G3BP2 G3BP stress granule assembly factor 2 gene DOID:630 genetic disease ISO RGD:1602228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244351 G3BP2 G3BP stress granule assembly factor 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1602228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 12244351 G3BP2 G3BP stress granule assembly factor 2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1602228 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12244370 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0050459 hyperphosphatemia ISO RGD:1315063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17710231 12244370 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12244370 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 12244370 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12244370 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12244370 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12244370 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12244370 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 12244370 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0111063 hyperphosphatemic familial tumoral calcinosis ISO RGD:1315063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome 12244370 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0111112 nephronophthisis 1 ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 12244370 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0111295 generalized epilepsy with febrile seizures plus 7 ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12244370 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12244370 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:12712 nephronophthisis ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 12244370 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial neonatal seizures PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12244370 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:182 calcinosis ISO RGD:1315063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17710231 12244370 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:1826 epilepsy ISO RGD:1315063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 12244370 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:630 genetic disease ISO RGD:1315063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12244370 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12244370 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1315063 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34520102 12244370 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1315063 D RGD:7240710 20190508 OMIM 12244370 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1315063 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:13774168|PMID:15133511|PMID:15599692|PMID:15687324|PMID:16528452|PMID:16940445|PMID:17311862|PMID:17351710|PMID:17576681|PMID:18322299|PMID:18618993|PMID:18982401|PMID:20358599|PMID:21347749|PMID:24668887|PMID:25326635|PMID:25351881|PMID:25741868|PMID:26337219|PMID:27164190|PMID:27867679|PMID:28492532|PMID:3839626|PMID:3998061|PMID:8338191|PMID:9536098 12244391 NUBP1 NUBP iron-sulfur cluster assembly factor 1, cytosolic gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1321458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 12244391 NUBP1 NUBP iron-sulfur cluster assembly factor 1, cytosolic gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1321458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 12244391 NUBP1 NUBP iron-sulfur cluster assembly factor 1, cytosolic gene DOID:5812 MHC class II deficiency ISO RGD:1321458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:26271388|PMID:28492532|PMID:8402893|PMID:9099848 12244391 NUBP1 NUBP iron-sulfur cluster assembly factor 1, cytosolic gene DOID:630 genetic disease ISO RGD:1321458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244409 THOC6 THO complex subunit 6 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1601739 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12244409 THOC6 THO complex subunit 6 gene DOID:1826 epilepsy ISO RGD:1601739 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12244409 THOC6 THO complex subunit 6 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1601739 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12244409 THOC6 THO complex subunit 6 gene DOID:630 genetic disease ISO RGD:1601739 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26739162|PMID:27102954|PMID:27295358|PMID:30476144|PMID:31421288|PMID:32790266 12244409 THOC6 THO complex subunit 6 gene DOID:9006768 Beaulieu-Boycott-Innes Syndrome ISO RGD:1601739 D RGD:7240710 20180130 OMIM 12244409 THOC6 THO complex subunit 6 gene DOID:9006768 Beaulieu-Boycott-Innes Syndrome ISO RGD:1601739 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome | ClinVar Annotator: match by term: Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations PMID:18414213|PMID:23621916|PMID:25741868|PMID:26739162|PMID:27102954|PMID:27295358|PMID:30238602|PMID:30476144|PMID:31421288|PMID:32790266 12244428 BCAP31 B cell receptor associated protein 31 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349319 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12244428 BCAP31 B cell receptor associated protein 31 gene DOID:0050476 Barth syndrome ISO RGD:1349319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12244428 BCAP31 B cell receptor associated protein 31 gene DOID:0050800 creatine transporter deficiency ISO RGD:1349319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 12244428 BCAP31 B cell receptor associated protein 31 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12244428 BCAP31 B cell receptor associated protein 31 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349319 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 12244428 BCAP31 B cell receptor associated protein 31 gene DOID:0112003 immunodeficiency 33 ISO RGD:1349319 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12244428 BCAP31 B cell receptor associated protein 31 gene DOID:0112123 deafness, dystonia, and cerebral hypomyelination ISO RGD:1349319 D RGD:7240710 20180130 OMIM 12244428 BCAP31 B cell receptor associated protein 31 gene DOID:0112123 deafness, dystonia, and cerebral hypomyelination ISO RGD:1349319 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome PMID:24011989|PMID:25741868 12244428 BCAP31 B cell receptor associated protein 31 gene DOID:10003 sensorineural hearing loss ISO RGD:1349319 D RGD:9068941 20200609 RGD DNA:mutation, deletion:exon:p.Q33X (human) PMID:24011989|REF_RGD_ID:7483567 12244428 BCAP31 B cell receptor associated protein 31 gene DOID:10588 adrenoleukodystrophy ISO RGD:1349319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:25741868|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12244428 BCAP31 B cell receptor associated protein 31 gene DOID:10907 microcephaly ISO RGD:1349319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12244428 BCAP31 B cell receptor associated protein 31 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12244428 BCAP31 B cell receptor associated protein 31 gene DOID:12849 autistic disorder ISO RGD:1349319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12244428 BCAP31 B cell receptor associated protein 31 gene DOID:13628 favism ISO RGD:1349319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12244428 BCAP31 B cell receptor associated protein 31 gene DOID:2729 dyskeratosis congenita ISO RGD:1349319 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12244428 BCAP31 B cell receptor associated protein 31 gene DOID:607 paraplegia ISO RGD:1349319 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12244428 BCAP31 B cell receptor associated protein 31 gene DOID:630 genetic disease ISO RGD:1349319 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10329713|PMID:17056546|PMID:18287538|PMID:24597975|PMID:25741868|PMID:28492532 12244428 BCAP31 B cell receptor associated protein 31 gene DOID:9002720 Splenomegaly ISO RGD:1349319 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12244428 BCAP31 B cell receptor associated protein 31 gene DOID:9008086 Developmental Disabilities ISO RGD:1349319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12244446 EGR1 early growth response 1 gene DOID:0050328 congenital hypothyroidism ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:23079472|REF_RGD_ID:10395304 12244446 EGR1 early growth response 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:10512 D RGD:9068941 20220825 MouseDO OMIM:614286 12244446 EGR1 early growth response 1 gene DOID:0070004 myeloid neoplasm ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:17420284|REF_RGD_ID:5131859 12244446 EGR1 early growth response 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:737111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12244446 EGR1 early growth response 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:737111 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12244446 EGR1 early growth response 1 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:10512 D RGD:9068941 20200626 RGD PMID:17420284|REF_RGD_ID:5131859 12244446 EGR1 early growth response 1 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:737111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12244446 EGR1 early growth response 1 gene DOID:10325 silicosis ISO RGD:2544 D RGD:9068941 20200609 RGD protein:increased expression:lung, epithelial cell, macrophage (rat) PMID:15033019|REF_RGD_ID:5131937 12244446 EGR1 early growth response 1 gene DOID:10652 Alzheimer's disease ISO RGD:737111 D RGD:9068941 20200609 RGD protein:increased expression:temporal cortex, hippocampus (human) PMID:21489990|REF_RGD_ID:5131647 12244446 EGR1 early growth response 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:21969301|PMID:23642031|REF_RGD_ID:10395277|REF_RGD_ID:10395279 12244446 EGR1 early growth response 1 gene DOID:11111 hydronephrosis ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25015655 12244446 EGR1 early growth response 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:10512 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:16713977|REF_RGD_ID:5131902 12244446 EGR1 early growth response 1 gene DOID:11832 visual epilepsy ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:23744421|REF_RGD_ID:10395306 12244446 EGR1 early growth response 1 gene DOID:12858 Huntington's disease ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:12191502|REF_RGD_ID:10395281 12244446 EGR1 early growth response 1 gene DOID:13406 pulmonary sarcoidosis ISO RGD:737111 D RGD:9068941 20200609 RGD protein:increased expression:lung (human) PMID:16933469|REF_RGD_ID:5131899 12244446 EGR1 early growth response 1 gene DOID:13580 cholestasis ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 12244446 EGR1 early growth response 1 gene DOID:1612 breast cancer ISO RGD:2544 D RGD:9068941 20200609 RGD protein:decreased expression:tumor (rat) PMID:9212230|REF_RGD_ID:5131943 12244446 EGR1 early growth response 1 gene DOID:1612 breast cancer ISO RGD:737111 D RGD:9068941 20200609 RGD protein:decreased expression:tumor (human) PMID:9212230|REF_RGD_ID:5131943 12244446 EGR1 early growth response 1 gene DOID:1712 aortic valve stenosis ISO RGD:737111 D RGD:9068941 20200609 RGD protein:increased expression:aortic valve cusp PMID:15597579|REF_RGD_ID:1626496 12244446 EGR1 early growth response 1 gene DOID:1724 duodenal ulcer ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:24385009|REF_RGD_ID:8694318 12244446 EGR1 early growth response 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737111 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 12244446 EGR1 early growth response 1 gene DOID:1826 epilepsy ISO RGD:10512 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (mouse) PMID:21559295|REF_RGD_ID:5131860 12244446 EGR1 early growth response 1 gene DOID:1852 intrahepatic cholestasis ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18364083|PMID:22094456 12244446 EGR1 early growth response 1 gene DOID:2316 brain ischemia ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17394460 12244446 EGR1 early growth response 1 gene DOID:2349 arteriosclerosis ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:14670837|REF_RGD_ID:5131652 12244446 EGR1 early growth response 1 gene DOID:2349 arteriosclerosis ISO RGD:10512 D RGD:9068941 20200609 RGD protein:increased expression:atherosclerotic lesions, vascular associated smooth muscle cell, nucleus (mouse) PMID:21099169|REF_RGD_ID:5131874 12244446 EGR1 early growth response 1 gene DOID:2349 arteriosclerosis ISO RGD:737111 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:carotid artery, plaque (human) PMID:10712437|REF_RGD_ID:5131645 12244446 EGR1 early growth response 1 gene DOID:2841 asthma ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:11254538|REF_RGD_ID:5131985 12244446 EGR1 early growth response 1 gene DOID:2841 asthma ISO RGD:737111 D RGD:9068941 20200609 RGD DNA:snp:5' utr:g.-4071A>G rs7729723 (human) PMID:18507785|REF_RGD_ID:5131993 12244446 EGR1 early growth response 1 gene DOID:2841 asthma ISO RGD:737111 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchoalveolar lavage cell (human) PMID:18774390|REF_RGD_ID:5130915 12244446 EGR1 early growth response 1 gene DOID:289 endometriosis ISO RGD:2544 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary PMID:23427178|REF_RGD_ID:10395305 12244446 EGR1 early growth response 1 gene DOID:305 carcinoma disease_progression ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:19200397|REF_RGD_ID:5131888 12244446 EGR1 early growth response 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:10512 D RGD:9068941 20200609 RGD associated with Tobacco Use Disorder PMID:20417178|REF_RGD_ID:5131878 12244446 EGR1 early growth response 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737111 D RGD:9068941 20200609 RGD associated with Tobacco Use Disorder;mRNA:increased expression:lung (human) PMID:15469929|REF_RGD_ID:5131854 12244446 EGR1 early growth response 1 gene DOID:326 ischemia ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12468449 12244446 EGR1 early growth response 1 gene DOID:3347 osteosarcoma ISO RGD:737111 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor (human) PMID:21283769|REF_RGD_ID:5131662 12244446 EGR1 early growth response 1 gene DOID:3355 fibrosarcoma ISO RGD:10512 D RGD:9068941 20200609 RGD human tumor line expressing mouse gene in mouse model PMID:7585551|REF_RGD_ID:5131944 12244446 EGR1 early growth response 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:22645329|REF_RGD_ID:10395314 12244446 EGR1 early growth response 1 gene DOID:3770 pulmonary fibrosis ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:19679873|REF_RGD_ID:5131644 12244446 EGR1 early growth response 1 gene DOID:3770 pulmonary fibrosis ISO RGD:10512 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:20539010|REF_RGD_ID:5131877 12244446 EGR1 early growth response 1 gene DOID:3770 pulmonary fibrosis disease_progression ISO RGD:737111 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19347046|REF_RGD_ID:4144870 12244446 EGR1 early growth response 1 gene DOID:3908 lung non-small cell carcinoma resistance ISO RGD:737111 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor (human) PMID:15774784|REF_RGD_ID:5131925 12244446 EGR1 early growth response 1 gene DOID:417 autoimmune disease ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 12244446 EGR1 early growth response 1 gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:737111 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor (human) PMID:11948124|REF_RGD_ID:5131942 12244446 EGR1 early growth response 1 gene DOID:4989 pancreatitis ISO RGD:2544 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas (rat) PMID:16124058|REF_RGD_ID:5131939 12244446 EGR1 early growth response 1 gene DOID:5082 liver cirrhosis ISO RGD:2544 D RGD:9068941 20200609 RGD protein:increased expression:liver, nucleus PMID:22292946|REF_RGD_ID:10395298 12244446 EGR1 early growth response 1 gene DOID:552 pneumonia ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29787794 12244446 EGR1 early growth response 1 gene DOID:6132 bronchitis ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:17384085|REF_RGD_ID:5132266 12244446 EGR1 early growth response 1 gene DOID:630 genetic disease ISO RGD:737111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244446 EGR1 early growth response 1 gene DOID:6432 pulmonary hypertension ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:20889906|REF_RGD_ID:5131875 12244446 EGR1 early growth response 1 gene DOID:6432 pulmonary hypertension ISO RGD:10512 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (mouse) PMID:18599502|REF_RGD_ID:5131890 12244446 EGR1 early growth response 1 gene DOID:6432 pulmonary hypertension ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:21924231|REF_RGD_ID:10395308 12244446 EGR1 early growth response 1 gene DOID:6432 pulmonary hypertension ISO RGD:2544 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (rat) PMID:20023177|REF_RGD_ID:5131883 12244446 EGR1 early growth response 1 gene DOID:6432 pulmonary hypertension ISO RGD:737111 D RGD:9068941 20200609 RGD protein:increased expression:lung (human) PMID:20889906|REF_RGD_ID:5131875 12244446 EGR1 early growth response 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12244446 EGR1 early growth response 1 gene DOID:684 hepatocellular carcinoma ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12244446 EGR1 early growth response 1 gene DOID:8398 osteoarthritis ISO RGD:737111 D RGD:9068941 20200609 RGD mRNA, protein: decreased expression PMID:10806043|REF_RGD_ID:1626498 12244446 EGR1 early growth response 1 gene DOID:850 lung disease ISO RGD:10512 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury PMID:20110555|REF_RGD_ID:5131881 12244446 EGR1 early growth response 1 gene DOID:850 lung disease ISO RGD:10512 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury; protein:increased expression:lung (mouse) PMID:18356564|REF_RGD_ID:5131893 12244446 EGR1 early growth response 1 gene DOID:850 lung disease ISO RGD:2544 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury; mRNA:increased expression:lung (rat) PMID:12816737|REF_RGD_ID:5131898 12244446 EGR1 early growth response 1 gene DOID:9001472 Nasal Polyps ISO RGD:737111 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal polyp (human) PMID:19158123|REF_RGD_ID:4890001 12244446 EGR1 early growth response 1 gene DOID:9001488 Human Influenza ISO RGD:10512 D RGD:9068941 20200609 RGD mRNA:increased expression:frontal cortex (mouse) PMID:21289196|REF_RGD_ID:5131660 12244446 EGR1 early growth response 1 gene DOID:9001553 Spinal Cord Compression ISO RGD:2544 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord dorsal horn (rat) PMID:20675054|REF_RGD_ID:5131876 12244446 EGR1 early growth response 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16552752 12244446 EGR1 early growth response 1 gene DOID:9002669 Hypoxia ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12468449 12244446 EGR1 early growth response 1 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:19188657|REF_RGD_ID:5131872 12244446 EGR1 early growth response 1 gene DOID:9003163 Heart Block ISO RGD:10512 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (mouse) PMID:15809371|REF_RGD_ID:5131924 12244446 EGR1 early growth response 1 gene DOID:9003230 Graft Occlusion, Vascular treatment ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:23586030|REF_RGD_ID:10395312 12244446 EGR1 early growth response 1 gene DOID:9003566 Mesothelioma ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15878867 12244446 EGR1 early growth response 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:737111 D RGD:9068941 20200609 RGD DNA:snp:5' utr:g.-4071A>G rs7729723 (human) PMID:19833116|REF_RGD_ID:5131984 12244446 EGR1 early growth response 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2544 D RGD:9068941 20200609 RGD mRNA:increased expression:forebrain (rat) PMID:7684483|REF_RGD_ID:2289081 12244446 EGR1 early growth response 1 gene DOID:9003936 Cardiomegaly ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:16025126|REF_RGD_ID:5131654 12244446 EGR1 early growth response 1 gene DOID:9004009 Reperfusion Injury ISO RGD:10512 D RGD:9068941 20200609 RGD Lung Reperfusion Injury PMID:16551742|REF_RGD_ID:5131903 12244446 EGR1 early growth response 1 gene DOID:9004009 Reperfusion Injury ISO RGD:10512 D RGD:9068941 20200609 RGD Lung Reperfusion Injury; protein:increased expression:lung, nucleus (mouse) PMID:19342415|REF_RGD_ID:5131887 12244446 EGR1 early growth response 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2544 D RGD:9068941 20200609 RGD Lung Reperfusion Injury; protein:increased expression:lung, nucleus (rat) PMID:16488723|REF_RGD_ID:5131904 12244446 EGR1 early growth response 1 gene DOID:9004009 Reperfusion Injury ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12468449 12244446 EGR1 early growth response 1 gene DOID:9004118 Experimental Melanoma ISO RGD:10512 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:salivary gland (mouse) PMID:19517020|REF_RGD_ID:5131885 12244446 EGR1 early growth response 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12244446 EGR1 early growth response 1 gene DOID:9005172 Lung Neoplasms ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12244446 EGR1 early growth response 1 gene DOID:9005372 Inflammation ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22094456 12244446 EGR1 early growth response 1 gene DOID:9005396 Intimal Hyperplasia treatment ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:23774133|REF_RGD_ID:10395302 12244446 EGR1 early growth response 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16157275|PMID:16738229|PMID:18311559 12244446 EGR1 early growth response 1 gene DOID:9005632 Cocaine-Related Disorders treatment ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:21309948|PMID:25309368|REF_RGD_ID:10395309|REF_RGD_ID:10400880 12244446 EGR1 early growth response 1 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:23232597|REF_RGD_ID:10395299 12244446 EGR1 early growth response 1 gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:22878149|REF_RGD_ID:10395282 12244446 EGR1 early growth response 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737111 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12244446 EGR1 early growth response 1 gene DOID:9007877 Fetal Hypoxia ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:23427086|REF_RGD_ID:10395301 12244446 EGR1 early growth response 1 gene DOID:9008023 Memory Disorders treatment ISO RGD:2544 D RGD:9068941 20200609 RGD associated with Congenital Hypothyroidism PMID:22192600|REF_RGD_ID:10395310 12244446 EGR1 early growth response 1 gene DOID:9008113 Tissue Adhesions ISO RGD:2544 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:peritoneum, adhesion (rat) PMID:14961185|REF_RGD_ID:5131938 12244446 EGR1 early growth response 1 gene DOID:9008331 Tendon Injuries treatment ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:23519232|REF_RGD_ID:10395300 12244446 EGR1 early growth response 1 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:22153973|REF_RGD_ID:10395307 12244446 EGR1 early growth response 1 gene DOID:9008884 Decompression Sickness ISO RGD:2544 D RGD:9068941 20200609 RGD mRNA:increased expression:lungs (rat) PMID:17310878|REF_RGD_ID:5131894 12244446 EGR1 early growth response 1 gene DOID:9446 cholangitis ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 12244446 EGR1 early growth response 1 gene DOID:9675 pulmonary emphysema ISO RGD:10512 D RGD:9068941 20200609 RGD associated with Tobacco Use Disorder;protein:increased expression:lung, epithelial cell (mouse) PMID:16601242|REF_RGD_ID:5131892 12244446 EGR1 early growth response 1 gene DOID:9675 pulmonary emphysema ISO RGD:737111 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (human) PMID:11021835|REF_RGD_ID:5131973 12244446 EGR1 early growth response 1 gene DOID:9675 pulmonary emphysema resistance ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:18830406|REF_RGD_ID:5131853 12244453 SYT3 synaptotagmin 3 gene DOID:630 genetic disease ISO RGD:736653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244484 CDH26 cadherin 26 gene DOID:630 genetic disease ISO RGD:1323191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244503 RNF215 ring finger protein 215 gene DOID:630 genetic disease ISO RGD:1606686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244516 LOC486523 keratin 6A gene DOID:0050449 pachyonychia congenita ISO RGD:1346482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12244516 LOC486523 keratin 6A gene DOID:630 genetic disease ISO RGD:1346482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244516 LOC486523 keratin 6A gene DOID:9000914 Pachyonychia Congenita 3 ISO RGD:1346482 D RGD:7240710 20190327 OMIM 12244516 LOC486523 keratin 6A gene DOID:9000914 Pachyonychia Congenita 3 ISO RGD:1346482 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pachyonychia congenita 3 PMID:11886499|PMID:16250206|PMID:17309457|PMID:21326300|PMID:22668561|PMID:24611874|PMID:25741868|PMID:28492532|PMID:31823354|PMID:32662074 12244539 GSG1 germ cell associated 1 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1315222 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12244539 GSG1 germ cell associated 1 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1315222 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12244539 GSG1 germ cell associated 1 gene DOID:630 genetic disease ISO RGD:1315222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244553 GALNT7 polypeptide N-acetylgalactosaminyltransferase 7 gene DOID:630 genetic disease ISO RGD:1347952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244553 GALNT7 polypeptide N-acetylgalactosaminyltransferase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12244569 GPATCH3 G-patch domain containing 3 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1347677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12244569 GPATCH3 G-patch domain containing 3 gene DOID:630 genetic disease ISO RGD:1347677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244580 PDE11A phosphodiesterase 11A gene DOID:0090022 split hand-foot malformation 5 ISO RGD:737612 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12244580 PDE11A phosphodiesterase 11A gene DOID:0110138 Bardet-Biedl syndrome 16 ISO RGD:737612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 PMID:16767104|PMID:19671705|PMID:20351491|PMID:21047926|PMID:24033266|PMID:25741868|PMID:27535533|PMID:28492532 12244580 PDE11A phosphodiesterase 11A gene DOID:5419 schizophrenia ISO RGD:737612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12244580 PDE11A phosphodiesterase 11A gene DOID:630 genetic disease ISO RGD:737612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244580 PDE11A phosphodiesterase 11A gene DOID:9002348 Primary Pigmented Nodular Adrenocortical Disease, 2 ISO RGD:737612 D RGD:7240710 20180130 OMIM 12244580 PDE11A phosphodiesterase 11A gene DOID:9002348 Primary Pigmented Nodular Adrenocortical Disease, 2 ISO RGD:737612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 2 PMID:16767104|PMID:19671705|PMID:20351491|PMID:21047926|PMID:21681106|PMID:24033266|PMID:25741868|PMID:27535533|PMID:28492532 12244611 PRC1 protein regulator of cytokinesis 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1323372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12244611 PRC1 protein regulator of cytokinesis 1 gene DOID:2717 Bloom syndrome ISO RGD:1323372 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12244611 PRC1 protein regulator of cytokinesis 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1323372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 12244611 PRC1 protein regulator of cytokinesis 1 gene DOID:3459 breast carcinoma ISO RGD:1323372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast carcinoma 12244611 PRC1 protein regulator of cytokinesis 1 gene DOID:630 genetic disease ISO RGD:1323372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244611 PRC1 protein regulator of cytokinesis 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1323372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12244611 PRC1 protein regulator of cytokinesis 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1323372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043753 12244611 PRC1 protein regulator of cytokinesis 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1323372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25038754 12244611 PRC1 protein regulator of cytokinesis 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1323372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 12244631 SH3PXD2B SH3 and PX domains 2B gene DOID:0080006 bone development disease ISO RGD:1349978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19669234 12244631 SH3PXD2B SH3 and PX domains 2B gene DOID:0080600 COVID-19 ISO RGD:1349978 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12244631 SH3PXD2B SH3 and PX domains 2B gene DOID:0111789 Frank-Ter Haar syndrome ISO RGD:1349978 D RGD:7240710 20180130 OMIM 12244631 SH3PXD2B SH3 and PX domains 2B gene DOID:0111789 Frank-Ter Haar syndrome ISO RGD:1349978 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Frank-Ter Haar syndrome PMID:15523657|PMID:20137777|PMID:22509100|PMID:23140272|PMID:24105366|PMID:25741868|PMID:28492532|PMID:29276006|PMID:31931872|PMID:31978614|PMID:7158646|PMID:8484415 12244631 SH3PXD2B SH3 and PX domains 2B gene DOID:10754 otitis media ISO RGD:1320533 D RGD:9068941 20220825 MouseDO OMIM:166760 12244631 SH3PXD2B SH3 and PX domains 2B gene DOID:13550 angle-closure glaucoma ISO RGD:1349978 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:28719234 12244631 SH3PXD2B SH3 and PX domains 2B gene DOID:1686 glaucoma ISO RGD:1320533 D RGD:9068941 20220825 MouseDO 12244631 SH3PXD2B SH3 and PX domains 2B gene DOID:630 genetic disease ISO RGD:1349978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29620724|PMID:35205281 12244631 SH3PXD2B SH3 and PX domains 2B gene DOID:9004538 Hearing Loss ISO RGD:1349978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19669234 12244631 SH3PXD2B SH3 and PX domains 2B gene DOID:9006205 Animal Disease Models ISO RGD:1349978 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:28719234 12244631 SH3PXD2B SH3 and PX domains 2B gene DOID:9006257 Growth Disorders ISO RGD:1349978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19669234 12244631 SH3PXD2B SH3 and PX domains 2B gene DOID:9008296 Eye Abnormalities ISO RGD:1349978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19669234 12244631 SH3PXD2B SH3 and PX domains 2B gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1349978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19669234 12244631 SH3PXD2B SH3 and PX domains 2B gene DOID:9282 ocular hypertension ISO RGD:1349978 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:28719234 12244648 BCL6B BCL6B transcription repressor gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1349060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12244648 BCL6B BCL6B transcription repressor gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1349060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 12244648 BCL6B BCL6B transcription repressor gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1349060 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12244648 BCL6B BCL6B transcription repressor gene DOID:12177 common variable immunodeficiency ISO RGD:1349060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12244648 BCL6B BCL6B transcription repressor gene DOID:2729 dyskeratosis congenita ISO RGD:1349060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12244648 BCL6B BCL6B transcription repressor gene DOID:630 genetic disease ISO RGD:1349060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244661 AK5 adenylate kinase 5 gene DOID:630 genetic disease ISO RGD:1353587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244661 AK5 adenylate kinase 5 gene DOID:670 amphetamine abuse ISO RGD:1353587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12244683 CEBPE CCAAT enhancer binding protein epsilon gene DOID:0060318 acute promyelocytic leukemia ISO RGD:733093 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16788101 12244683 CEBPE CCAAT enhancer binding protein epsilon gene DOID:0060439 lysinuric protein intolerance ISO RGD:733093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12244683 CEBPE CCAAT enhancer binding protein epsilon gene DOID:630 genetic disease ISO RGD:733093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12244683 CEBPE CCAAT enhancer binding protein epsilon gene DOID:9000056 Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain ISO RGD:733093 D RGD:7240710 20220921 OMIM 12244683 CEBPE CCAAT enhancer binding protein epsilon gene DOID:9000056 Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain ISO RGD:733093 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pelger-Huet-like anomaly and episodic fever with abdominal pain PMID:31201888|PMID:4831644 12244683 CEBPE CCAAT enhancer binding protein epsilon gene DOID:9000265 Specific Granule Deficiency ISO RGD:733093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:25741868|PMID:28492532 12244683 CEBPE CCAAT enhancer binding protein epsilon gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:733093 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12244683 CEBPE CCAAT enhancer binding protein epsilon gene DOID:9009082 Specific Granule Deficiency 1 ISO RGD:733093 D RGD:7240710 20190327 OMIM 12244683 CEBPE CCAAT enhancer binding protein epsilon gene DOID:9009082 Specific Granule Deficiency 1 ISO RGD:733093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Specific granule deficiency 1 PMID:10359588|PMID:11313242|PMID:17244686|PMID:25741868|PMID:26019275|PMID:28492532|PMID:29651288|PMID:32391290|PMID:35726044|PMID:4129798|PMID:7088114|PMID:758416 12244683 CEBPE CCAAT enhancer binding protein epsilon gene DOID:9952 acute lymphoblastic leukemia ISO RGD:733093 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19684604 12244689 CEP170B centrosomal protein 170B gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1345091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12244689 CEP170B centrosomal protein 170B gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1345091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 12244689 CEP170B centrosomal protein 170B gene DOID:1682 congenital heart disease ISO RGD:1345091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:23087211|PMID:25741868|PMID:31680349 12244689 CEP170B centrosomal protein 170B gene DOID:630 genetic disease ISO RGD:1345091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244713 RETREG3 reticulophagy regulator family member 3 gene DOID:630 genetic disease ISO RGD:1601713 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244726 LRRC8A leucine rich repeat containing 8 VRAC subunit A gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1323279 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12244726 LRRC8A leucine rich repeat containing 8 VRAC subunit A gene DOID:0080588 agammaglobulinemia 5 ISO RGD:1323279 D RGD:7240710 20190327 OMIM 12244726 LRRC8A leucine rich repeat containing 8 VRAC subunit A gene DOID:0080588 agammaglobulinemia 5 ISO RGD:1323279 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 5, autosomal dominant PMID:24033266|PMID:25741868|PMID:28492532 12244726 LRRC8A leucine rich repeat containing 8 VRAC subunit A gene DOID:2583 agammaglobulinemia ISO RGD:1323279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12244726 LRRC8A leucine rich repeat containing 8 VRAC subunit A gene DOID:2583 agammaglobulinemia ISO RGD:1323279 D RGD:9068941 20200609 RGD PMID:14660746|REF_RGD_ID:1599837 12244726 LRRC8A leucine rich repeat containing 8 VRAC subunit A gene DOID:630 genetic disease ISO RGD:1323279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12244740 PXMP4 peroxisomal membrane protein 4 gene DOID:2843 long QT syndrome ISO RGD:1348847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12244740 PXMP4 peroxisomal membrane protein 4 gene DOID:630 genetic disease ISO RGD:1348847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244753 EEF1G eukaryotic translation elongation factor 1 gamma gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1349957 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12244753 EEF1G eukaryotic translation elongation factor 1 gamma gene DOID:1059 intellectual disability ISO RGD:1349957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12244753 EEF1G eukaryotic translation elongation factor 1 gamma gene DOID:630 genetic disease ISO RGD:1349957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244767 MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:0060067 Pearson syndrome ISO RGD:1344922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pearson syndrome 12244767 MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:0080198 infantile histiocytoid cardiomyopathy ISO RGD:1344922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Foamy myocardial transformation of infancy PMID:19188198|PMID:26803244 12244767 MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1344922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve 12244767 MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:0111753 infantile hypertrophic cardiomyopathy ISO RGD:1344922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, infantile hypertrophic PMID:19188198|PMID:26803244 12244767 MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:10952 nephritis susceptibility ISO RGD:735408 D RGD:9068941 20200609 RGD DNA:transversion: :m.7778G>T (mouse) PMID:19759059|REF_RGD_ID:5490297 12244767 MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:11054 urinary bladder cancer ISO RGD:1344922 D RGD:9068941 20200609 RGD DNA:deletion: :(human) PMID:15254717|REF_RGD_ID:2302294 12244767 MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:12930 dilated cardiomyopathy ISO RGD:1344922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24088041|PMID:26633545 12244767 MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:12934 Kearns-Sayre syndrome ISO RGD:1344922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kearns-Sayre syndrome PMID:20301382 12244767 MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:1891 optic nerve disease ISO RGD:1344922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic neuropathy PMID:28027978 12244767 MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:2377 multiple sclerosis ISO RGD:1344922 D RGD:9068941 20200609 RGD DNA:point mutation: :m.8406C>T (human) PMID:17619138|REF_RGD_ID:5490263 12244767 MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:3652 Leigh disease ISO RGD:1344922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:11062027|PMID:14697245|PMID:17101920|PMID:1757091|PMID:18682780|PMID:20207608|PMID:24153443|PMID:25741868|PMID:25941154|PMID:26993169|PMID:7633428|PMID:9243242 12244767 MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:4989 pancreatitis susceptibility ISO RGD:735408 D RGD:9068941 20200609 RGD DNA:transversion: :m.7778G>T (mouse) PMID:19759059|REF_RGD_ID:5490297 12244767 MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:700 mitochondrial metabolism disease ISO RGD:1344922 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:19188198|PMID:20301382|PMID:26803244 12244767 MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:9001276 Failure to Thrive ISO RGD:1344922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 12244767 MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:9002457 Experimental Arthritis susceptibility ISO RGD:735408 D RGD:9068941 20200609 RGD DNA:transversion: :m.7778G>T (mouse) PMID:19759059|REF_RGD_ID:5490297 12244767 MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:9004009 Reperfusion Injury ISO RGD:621240 D RGD:9068941 20200609 RGD PMID:20450733|REF_RGD_ID:5490294 12244767 MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:9004590 Acute Liver Failure disease_progression ISO RGD:735408 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:21167184|REF_RGD_ID:5490296 12244767 MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1344922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain pseudoatrophy, reversible, valproate-induced, susceptibility to PMID:17101920|PMID:9243242 12244767 MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:9008137 Apical Hypertrophic Cardiomyopathy and Neuropathy ISO RGD:1344922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy PMID:21686774 12244767 MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:735408 D RGD:9068941 20200609 RGD DNA:transversion: :m.7778G>T (mouse) PMID:19759059|REF_RGD_ID:5490297 12244768 NOXA1 NADPH oxidase activator 1 gene DOID:0050777 Joubert syndrome ISO RGD:1315446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12244768 NOXA1 NADPH oxidase activator 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1315446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12244768 NOXA1 NADPH oxidase activator 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1315446 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12244768 NOXA1 NADPH oxidase activator 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1315446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12244768 NOXA1 NADPH oxidase activator 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1315446 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12244768 NOXA1 NADPH oxidase activator 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1315446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12244768 NOXA1 NADPH oxidase activator 1 gene DOID:1826 epilepsy ISO RGD:1315446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12244768 NOXA1 NADPH oxidase activator 1 gene DOID:630 genetic disease ISO RGD:1315446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244768 NOXA1 NADPH oxidase activator 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1315446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12244795 PSMD1 proteasome 26S subunit, non-ATPase 1 gene DOID:0060476 Perlman syndrome ISO RGD:734088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12244795 PSMD1 proteasome 26S subunit, non-ATPase 1 gene DOID:0110991 Joubert syndrome 22 ISO RGD:734088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12244795 PSMD1 proteasome 26S subunit, non-ATPase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:734088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:29127258 12244795 PSMD1 proteasome 26S subunit, non-ATPase 1 gene DOID:630 genetic disease ISO RGD:734088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244837 CIB4 calcium and integrin binding family member 4 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1606728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12244837 CIB4 calcium and integrin binding family member 4 gene DOID:630 genetic disease ISO RGD:1606728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244856 MIR377 microRNA mir-377 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1342565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 12244856 MIR377 microRNA mir-377 gene DOID:13580 cholestasis ISO RGD:1342565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12244856 MIR377 microRNA mir-377 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1342565 D RGD:9068941 20200609 RGD miRNA:decreased expression:lung PMID:27874949|REF_RGD_ID:13464321 12244856 MIR377 microRNA mir-377 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1342565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12244856 MIR377 microRNA mir-377 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1342565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12244873 CFAP77 cilia and flagella associated protein 77 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1604151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12244873 CFAP77 cilia and flagella associated protein 77 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1604151 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12244873 CFAP77 cilia and flagella associated protein 77 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1604151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12244873 CFAP77 cilia and flagella associated protein 77 gene DOID:0081097 Rafiq syndrome ISO RGD:1604151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12244873 CFAP77 cilia and flagella associated protein 77 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1604151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12244873 CFAP77 cilia and flagella associated protein 77 gene DOID:3652 Leigh disease ISO RGD:1604151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12244873 CFAP77 cilia and flagella associated protein 77 gene DOID:630 genetic disease ISO RGD:1604151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244933 PAPOLB poly(A) polymerase beta gene DOID:630 genetic disease ISO RGD:1322134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244956 LOC477570 tubulin alpha-3 chain gene DOID:0050453 lissencephaly ISO RGD:1604550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:25558065 12244956 LOC477570 tubulin alpha-3 chain gene DOID:630 genetic disease ISO RGD:1604550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244965 PPHLN1 periphilin 1 gene DOID:630 genetic disease ISO RGD:1314694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12244999 RAD51C RAD51 paralog C gene DOID:0050777 Joubert syndrome ISO RGD:1350974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12244999 RAD51C RAD51 paralog C gene DOID:0111096 Fanconi anemia complementation group O ISO RGD:1350974 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group O PMID:12442171|PMID:12966089|PMID:14704354|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:19763152|PMID:20052722|PMID:20307669|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22406018|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29020732|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30680046|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33047316|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34570441|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36988593|PMID:9536098 12244999 RAD51C RAD51 paralog C gene DOID:0111096 Fanconi anemia complementation group O susceptibility ISO RGD:1350974 D RGD:7240710 20230517 OMIM 12244999 RAD51C RAD51 paralog C gene DOID:10534 stomach cancer ISO RGD:1350974 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:16199547|PMID:17576681|PMID:20400964|PMID:21616938|PMID:21990120|PMID:22725699|PMID:24800917|PMID:25086635|PMID:25470109|PMID:25741868|PMID:26270727|PMID:26467025|PMID:26720728|PMID:26824983|PMID:27433846|PMID:27913932|PMID:28492532|PMID:28802053|PMID:29566657|PMID:30093976|PMID:30322717|PMID:30875412|PMID:30927251|PMID:31300551|PMID:31815095|PMID:32107557|PMID:33333735|PMID:33471991|PMID:36988593|PMID:9536098 12244999 RAD51C RAD51 paralog C gene DOID:10907 microcephaly ISO RGD:1350974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:32566746 12244999 RAD51C RAD51 paralog C gene DOID:13636 Fanconi anemia ISO RGD:1350974 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:20400964|PMID:20697805|PMID:20723205|PMID:21537932|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22725699|PMID:23117857|PMID:24082139|PMID:24504028|PMID:25086635|PMID:25470109|PMID:25741868|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26740214|PMID:27153395|PMID:28492532|PMID:32606146 12244999 RAD51C RAD51 paralog C gene DOID:1520 colon carcinoma ISO RGD:1350974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:16199547|PMID:20400964|PMID:21537932|PMID:21990120|PMID:22538716|PMID:23117857|PMID:24800917|PMID:25186627|PMID:25318351|PMID:25470109|PMID:25741868|PMID:26261251|PMID:26467025|PMID:26740214|PMID:28492532|PMID:29641532|PMID:30309722|PMID:30924587|PMID:30949688 12244999 RAD51C RAD51 paralog C gene DOID:1612 breast cancer ISO RGD:1350974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:21537932|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23149936|PMID:24082139|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25086635|PMID:25154786|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27149507|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28829762|PMID:29416752|PMID:29458332|PMID:29566657|PMID:29785153|PMID:30306255|PMID:30374176|PMID:30426508|PMID:31874108|PMID:32659497|PMID:32885271|PMID:33471991|PMID:9536098 12244999 RAD51C RAD51 paralog C gene DOID:1612 breast cancer ISO RGD:1350974 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:21537932|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:24082139|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25086635|PMID:25154786|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27149507|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28829762|PMID:29416752|PMID:29458332|PMID:29566657|PMID:29785153|PMID:30306255|PMID:30374176|PMID:30426508|PMID:31874108|PMID:32659497|PMID:32885271|PMID:33333735|PMID:33471991|PMID:9536098 12244999 RAD51C RAD51 paralog C gene DOID:1612 breast cancer ISO RGD:1350974 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:24082139|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25086635|PMID:25154786|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27149507|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28829762|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29785153|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30949688|PMID:31874108|PMID:32068069|PMID:32606146|PMID:32659497|PMID:32885271|PMID:33333735|PMID:33471991|PMID:33858678|PMID:35565380|PMID:9536098 12244999 RAD51C RAD51 paralog C gene DOID:2394 ovarian cancer ISO RGD:1350974 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:20400964|PMID:21537932|PMID:21597919|PMID:21980511|PMID:22167183|PMID:23117857|PMID:25186627|PMID:25292178|PMID:25338684|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26467025|PMID:27443514|PMID:28492532|PMID:28864920|PMID:29158291|PMID:29263802|PMID:29641532|PMID:30093976|PMID:30982232|PMID:31567591|PMID:32068069|PMID:32566746|PMID:32658311|PMID:33471991|PMID:34284872|PMID:34426522|PMID:35039523 12244999 RAD51C RAD51 paralog C gene DOID:2871 endometrial carcinoma ISO RGD:1350974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:20400964|PMID:21990120|PMID:24800917|PMID:25741868|PMID:26681312|PMID:26687385|PMID:26822949|PMID:28492532|PMID:32295079 12244999 RAD51C RAD51 paralog C gene DOID:3459 breast carcinoma ISO RGD:1350974 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:20400964|PMID:21990120|PMID:22538716|PMID:22725699|PMID:23117857|PMID:24240112|PMID:24800917|PMID:25086635|PMID:25470109|PMID:25741868|PMID:26261251|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27433846|PMID:27913932|PMID:28492532|PMID:28588062|PMID:30322717|PMID:30847381|PMID:30949688|PMID:31300551|PMID:32658311|PMID:33077847|PMID:33471991|PMID:36988593 12244999 RAD51C RAD51 paralog C gene DOID:5426 primary ovarian insufficiency ISO RGD:1350974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure | ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:21537932|PMID:22476429|PMID:22538716|PMID:23117857|PMID:25186627|PMID:25318351|PMID:25470109|PMID:25741868|PMID:26261251|PMID:26467025|PMID:26740214|PMID:28492532|PMID:29641532|PMID:30309722|PMID:30924587 12244999 RAD51C RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30772928|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31472684|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32659497|PMID:32832836|PMID:32885271|PMID:32957588|PMID:33134171|PMID:33471991|PMID:9536098 12244999 RAD51C RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30772928|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31472684|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32659497|PMID:32832836|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33134171|PMID:33333735|PMID:33471991|PMID:9536098 12244999 RAD51C RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30772928|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31472684|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33134171|PMID:33258288|PMID:33326660|PMID:33333735|PMID:33471991|PMID:34426522|PMID:9536098 12244999 RAD51C RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30772928|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31472684|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33134171|PMID:33258288|PMID:33326660|PMID:33333735|PMID:33471991|PMID:34426522|PMID:35806449|PMID:9536098 12244999 RAD51C RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098 12244999 RAD51C RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098 12244999 RAD51C RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36988593|PMID:9536098 12244999 RAD51C RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome susceptibility ISO RGD:1350974 D RGD:7240710 20230517 OMIM 12244999 RAD51C RAD51 paralog C gene DOID:630 genetic disease ISO RGD:1350974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12244999 RAD51C RAD51 paralog C gene DOID:6901 familiar ovarian carcinoma ISO RGD:1350974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial ovarian carcinoma PMID:33832919 12244999 RAD51C RAD51 paralog C gene DOID:9002762 Ovarian Neoplasms ISO RGD:1350974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:16199547|PMID:20400963|PMID:20400964|PMID:21616938|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22538716|PMID:23117857|PMID:23176254|PMID:24139550|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24800917|PMID:25086635|PMID:25452441|PMID:25470109|PMID:25741868|PMID:26261251|PMID:26354865|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26848151|PMID:27230542|PMID:27433846|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28767289|PMID:28802053|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29416752|PMID:29522266|PMID:29625052|PMID:29922827|PMID:30216591|PMID:30306255|PMID:30426508|PMID:30927251|PMID:31874108|PMID:32295079|PMID:32359370|PMID:32659497|PMID:32854451|PMID:32885271|PMID:33471991 12244999 RAD51C RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12442171|PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23149936|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30924587|PMID:30927251|PMID:30949688|PMID:31159747|PMID:31173646|PMID:31300551|PMID:31422574|PMID:31742824|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32885271|PMID:32957588|PMID:33471991|PMID:9536098 12244999 RAD51C RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12442171|PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30924587|PMID:30949688|PMID:31159747|PMID:31173646|PMID:31300551|PMID:31422574|PMID:31742824|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33258288|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33858678|PMID:34426522|PMID:35806449|PMID:9536098 12244999 RAD51C RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12442171|PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30924587|PMID:30949688|PMID:31159747|PMID:31173646|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31742824|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33258288|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33858678|PMID:34426522|PMID:35806449|PMID:9536098 12244999 RAD51C RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098 12244999 RAD51C RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098 12244999 RAD51C RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098 12244999 RAD51C RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34570441|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36988593|PMID:9536098 12244999 RAD51C RAD51 paralog C gene DOID:9008939 Breast Neoplasms ISO RGD:1350974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20400964|PMID:28825726 12244999 RAD51C RAD51 paralog C gene DOID:9008952 Breast Cancer, Familial ISO RGD:1350974 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:20400964|PMID:21616938|PMID:21750962|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22538716|PMID:22725699|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25292178|PMID:25470109|PMID:25741868|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26740214|PMID:26976419|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28492532|PMID:28678401|PMID:28829762|PMID:29458332|PMID:29785153|PMID:30374176 12244999 RAD51C RAD51 paralog C gene DOID:9460 uterine corpus cancer ISO RGD:1350974 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:12966089|PMID:17576681|PMID:22538716|PMID:24139550|PMID:25741868|PMID:26057125|PMID:26681312|PMID:27616075|PMID:27621404|PMID:28492532|PMID:28905878|PMID:29255180|PMID:29978187|PMID:30086788|PMID:30257646|PMID:30374176|PMID:31843900|PMID:31882575|PMID:32295079|PMID:32854451|PMID:33333735|PMID:9536098 12245015 SCML4 Scm polycomb group protein like 4 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1322066 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 12245015 SCML4 Scm polycomb group protein like 4 gene DOID:630 genetic disease ISO RGD:1322066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245039 INCENP inner centromere protein gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1313235 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12245039 INCENP inner centromere protein gene DOID:1059 intellectual disability ISO RGD:1313235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12245039 INCENP inner centromere protein gene DOID:12712 nephronophthisis ISO RGD:1313235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:26489029 12245039 INCENP inner centromere protein gene DOID:1909 melanoma ISO RGD:1313235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12245039 INCENP inner centromere protein gene DOID:630 genetic disease ISO RGD:1313235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245039 INCENP inner centromere protein gene DOID:9005539 Familial Prostate Cancer ISO RGD:1313235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12245078 KCNK15 potassium two pore domain channel subfamily K member 15 gene DOID:2234 focal epilepsy ISO RGD:1345243 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12245078 KCNK15 potassium two pore domain channel subfamily K member 15 gene DOID:630 genetic disease ISO RGD:1345243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245078 KCNK15 potassium two pore domain channel subfamily K member 15 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1345243 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12245084 SEZ6L seizure related 6 homolog like gene DOID:0110271 cataract 23 ISO RGD:1344560 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 12245084 SEZ6L seizure related 6 homolog like gene DOID:10283 prostate cancer ISO RGD:1344560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12245084 SEZ6L seizure related 6 homolog like gene DOID:630 genetic disease ISO RGD:1344560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245111 SNX20 sorting nexin 20 gene DOID:0111122 nephronophthisis 14 ISO RGD:1604540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 12245111 SNX20 sorting nexin 20 gene DOID:630 genetic disease ISO RGD:1604540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245119 TSTD1 thiosulfate sulfurtransferase like domain containing 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:2859136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12245119 TSTD1 thiosulfate sulfurtransferase like domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:2859136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12245119 TSTD1 thiosulfate sulfurtransferase like domain containing 1 gene DOID:630 genetic disease ISO RGD:2859136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245119 TSTD1 thiosulfate sulfurtransferase like domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:2859136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12245127 CD19 CD19 molecule gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1319228 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 12245127 CD19 CD19 molecule gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1319228 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:25741868|PMID:28492532 12245127 CD19 CD19 molecule gene DOID:0081146 common variable immunodeficiency 3 ISO RGD:1319228 D RGD:7240710 20190710 OMIM 12245127 CD19 CD19 molecule gene DOID:0081146 common variable immunodeficiency 3 ISO RGD:1319228 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 3 PMID:16672701|PMID:17882224|PMID:21159371|PMID:21330302|PMID:24033266|PMID:25741868|PMID:28492532 12245127 CD19 CD19 molecule gene DOID:12177 common variable immunodeficiency ISO RGD:1319228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16672701 12245127 CD19 CD19 molecule gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1319228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 12245127 CD19 CD19 molecule gene DOID:2583 agammaglobulinemia ISO RGD:1319228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16672701 12245127 CD19 CD19 molecule gene DOID:5419 schizophrenia ISO RGD:1319228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12245127 CD19 CD19 molecule gene DOID:612 primary immunodeficiency disease ISO RGD:1319228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12245127 CD19 CD19 molecule gene DOID:630 genetic disease ISO RGD:1319228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12245127 CD19 CD19 molecule gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1319228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:0060368 Parkinson's disease 2 ISO RGD:730938 D RGD:7240710 20180502 OMIM 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:0060368 Parkinson's disease 2 ISO RGD:730938 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 | ClinVar Annotator: match by term: Parkinsonism, early onset, with diurnal fluctuation | ClinVar Annotator: match by term: Young-onset Parkinson disease PMID:10072423|PMID:10319889|PMID:10824074|PMID:10894217|PMID:10939576|PMID:10983716|PMID:11009195|PMID:11163284|PMID:11179010|PMID:11222808|PMID:11402119|PMID:11405814|PMID:11487568|PMID:11558785|PMID:11889248|PMID:11971093|PMID:12056932|PMID:12114481|PMID:12116199|PMID:12397156|PMID:12629236|PMID:12707451|PMID:12707457|PMID:12730996|PMID:12764050|PMID:12764051|PMID:12781588|PMID:12891670|PMID:12975291|PMID:14519684|PMID:14639672|PMID:15090472|PMID:15193026|PMID:15197707|PMID:15254940|PMID:15266615|PMID:15390068|PMID:15606901|PMID:15729528|PMID:15816865|PMID:15823482|PMID:15970950|PMID:16049031|PMID:16086186|PMID:16130111|PMID:16227559|PMID:16269266|PMID:16328510|PMID:16339143|PMID:16367892|PMID:16476817|PMID:16500134|PMID:16606767|PMID:16714300|PMID:16769863|PMID:16793319|PMID:17095157|PMID:17187375|PMID:17415800|PMID:17766365|PMID:17914726|PMID:18211709|PMID:18413468|PMID:18485927|PMID:18486522|PMID:18514563|PMID:18519021|PMID:18685134|PMID:18785233|PMID:18927607|PMID:18951541|PMID:18973255|PMID:19006224|PMID:19087301|PMID:19162522|PMID:19205068|PMID:19351622|PMID:19405094|PMID:19636047|PMID:19715670|PMID:19801972|PMID:19891003|PMID:19922375|PMID:19946270|PMID:20301651|PMID:20399249|PMID:20404107|PMID:20457763|PMID:20558392|PMID:20604804|PMID:20643691|PMID:20798600|PMID:21215313|PMID:21322020|PMID:21348451|PMID:21534944|PMID:21625934|PMID:21681106|PMID:21694720|PMID:21993715|PMID:21996382|PMID:22118943|PMID:22233331|PMID:22243833|PMID:22302706|PMID:22523156|PMID:22555654|PMID:22766139|PMID:22777964|PMID:22956510|PMID:22995991|PMID:23275044|PMID:23531835|PMID:23727886|PMID:23751051|PMID:23818421|PMID:23835509|PMID:23880019|PMID:23986421|PMID:24033266|PMID:24082139|PMID:24167364|PMID:24375549|PMID:24647965|PMID:24677602|PMID:24816432|PMID:24831986|PMID:25174650|PMID:25238391|PMID:25284222|PMID:25558820|PMID:25591737|PMID:25640679|PMID:25741868|PMID:25815004|PMID:25833766|PMID:25877876|PMID:25907632|PMID:25939424|PMID:26116755|PMID:26161729|PMID:26188007|PMID:26274610|PMID:26467025|PMID:26556299|PMID:26683220|PMID:26764160|PMID:26830385|PMID:26836416|PMID:26855076|PMID:27094865|PMID:27182553|PMID:27206984|PMID:27294386|PMID:27776828|PMID:28492532|PMID:28862745|PMID:29353703|PMID:29530980|PMID:29606608|PMID:29910155|PMID:29967542|PMID:30099245|PMID:30200940|PMID:30502028|PMID:30537300|PMID:30609409|PMID:30994895|PMID:31147223|PMID:31182772|PMID:31217084|PMID:31324919|PMID:31409571|PMID:31429726|PMID:31660654|PMID:31695088|PMID:31929871|PMID:32214227|PMID:32870915|PMID:32970363|PMID:33045815|PMID:33150996|PMID:33166806|PMID:33845304|PMID:34426522|PMID:7565830|PMID:9560156|PMID:9634531|PMID:9731209|PMID:9802278|PMID:9851438 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:0080855 Parkinsonism ISO RGD:730938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Juvenile parkinsonism | ClinVar Annotator: match by term: Parkinson Disease, Juvenile PMID:10072423|PMID:11971093|PMID:12116199|PMID:12629236|PMID:12730996|PMID:12764050|PMID:14519684|PMID:15823482|PMID:16049031|PMID:16227559|PMID:16367892|PMID:16476817|PMID:16714300|PMID:17766365|PMID:18211709|PMID:18519021|PMID:18973255|PMID:19205068|PMID:19405094|PMID:19636047|PMID:23275044|PMID:24167364|PMID:25591737|PMID:25741868|PMID:25877876|PMID:25939424|PMID:26274610|PMID:26467025|PMID:26556299|PMID:28492532|PMID:28862745|PMID:30200940|PMID:30994895|PMID:31409571|PMID:32870915|PMID:33045815|PMID:34426522 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:730938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:1024 leprosy ISO RGD:730938 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 2 PMID:10072423|PMID:11558785|PMID:11889248|PMID:12730996|PMID:12891670|PMID:14519684|PMID:15390068|PMID:15970950|PMID:16049031|PMID:16714300|PMID:17766365|PMID:19162522|PMID:19636047|PMID:19801972|PMID:20457763|PMID:20798600|PMID:22118943|PMID:22555654|PMID:23531835|PMID:24033266|PMID:24082139|PMID:24647965|PMID:24831986|PMID:25591737|PMID:25741868|PMID:25815004|PMID:25907632|PMID:25939424|PMID:26188007|PMID:26467025|PMID:26683220|PMID:26764160|PMID:26836416|PMID:26855076|PMID:27182553|PMID:27294386|PMID:28492532|PMID:29353703|PMID:30200940|PMID:30537300|PMID:30609409|PMID:30994895|PMID:31409571|PMID:32970363|PMID:33045815|PMID:33845304 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:10652 Alzheimer's disease ISO RGD:730938 D RGD:9068941 20200609 RGD protein:increased expression:vessel,astrocyte: PMID:19716418|REF_RGD_ID:10412736 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:10652 Alzheimer's disease treatment ISO RGD:62089 D RGD:9068941 20200609 RGD PMID:24105468|REF_RGD_ID:10412735 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:12217 Lewy body dementia ISO RGD:730938 D RGD:9068941 20200609 RGD PMID:17467279|REF_RGD_ID:10412737 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:12849 autistic disorder ISO RGD:730938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:12858 Huntington's disease ISO RGD:62089 D RGD:9068941 20200609 RGD PMID:19464273|REF_RGD_ID:10412729 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:1324 lung cancer ISO RGD:730938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:25741868|PMID:25939424|PMID:28492532|PMID:28862745 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:13548 secondary Parkinson disease ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15993444 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease ISO RGD:62089 D RGD:9068941 20200609 RGD PMID:28695462|REF_RGD_ID:13432207 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12588799|PMID:15198987|PMID:15882845|PMID:16573651|PMID:17010972|PMID:19946270|PMID:22043175|PMID:22841634|PMID:23628791|PMID:24582596|PMID:25149416|PMID:25631236|PMID:28284907 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease ISO RGD:730938 D RGD:9068941 20200609 RGD PMID:25639775|PMID:26223426|REF_RGD_ID:10450518|REF_RGD_ID:10450521 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease ISO RGD:730938 D RGD:9068941 20200609 RGD DNA:deletions:exons: (human) PMID:9560156|REF_RGD_ID:9693725 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease ISO RGD:730938 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:12629236|REF_RGD_ID:737763 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease ISO RGD:730938 D RGD:9068941 20200609 RGD protein:increased tyrosine-phosphorylation:substantia nigra, striatum, PMID:20823226|REF_RGD_ID:8693409 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease treatment ISO RGD:61797 D RGD:9068941 20200609 RGD PMID:28526446|REF_RGD_ID:13432567 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease treatment ISO RGD:62089 D RGD:9068941 20200609 RGD PMID:28583715|REF_RGD_ID:13432563 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease treatment ISO RGD:730938 D RGD:9068941 20200609 RGD PMID:16914382|REF_RGD_ID:10413859 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:1561 cognitive disorder treatment ISO RGD:62089 D RGD:9068941 20200609 RGD PMID:28532818|REF_RGD_ID:13432566 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:224 transient cerebral ischemia ISO RGD:62089 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex, striatum: PMID:12415119|REF_RGD_ID:10413862 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:2377 multiple sclerosis ISO RGD:730938 D RGD:9068941 20200609 RGD protein:increased expression:white matter,astrocyte: PMID:19716418|REF_RGD_ID:10412736 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:2394 ovarian cancer ISO RGD:730938 D RGD:7240710 20190213 OMIM 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:3068 glioblastoma ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19946270 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:3910 lung adenocarcinoma ISO RGD:730938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:12719539 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:4362 cervical cancer disease_progression ISO RGD:730938 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix (human) PMID:28631565|REF_RGD_ID:13432557 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:5119 ovarian cyst ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:5419 schizophrenia ISO RGD:730938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:684 hepatocellular carcinoma severity ISO RGD:62089 D RGD:9068941 20200609 RGD protein:decreased expression:liver (human) PMID:28862485|REF_RGD_ID:13432206 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:8927 learning disability ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12915482 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9000304 Manganese Poisoning ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20089134 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:61797 D RGD:9068941 20200609 RGD PMID:28546552|REF_RGD_ID:13432565 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:62089 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:28663335|REF_RGD_ID:13432209 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:61797 D RGD:9068941 20200609 RGD PMID:26882442|REF_RGD_ID:12910839 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9002762 Ovarian Neoplasms ISO RGD:730938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:10072423|PMID:11558785|PMID:11889248|PMID:11971093|PMID:12116199|PMID:12629236|PMID:12719539|PMID:12730996|PMID:12764050|PMID:12891670|PMID:14519684|PMID:15390068|PMID:15823482|PMID:15970950|PMID:16049031|PMID:16227559|PMID:16367892|PMID:16476817|PMID:16714300|PMID:17766365|PMID:18211709|PMID:18519021|PMID:18973255|PMID:19162522|PMID:19205068|PMID:19405094|PMID:19636047|PMID:19801972|PMID:20457763|PMID:20798600|PMID:22118943|PMID:22555654|PMID:23275044|PMID:23531835|PMID:24033266|PMID:24082139|PMID:24167364|PMID:24831986|PMID:25591737|PMID:25741868|PMID:25815004|PMID:25877876|PMID:25907632|PMID:25939424|PMID:26188007|PMID:26274610|PMID:26467025|PMID:26764160|PMID:26836416|PMID:26855076|PMID:27182553|PMID:27294386|PMID:28492532 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9002762 Ovarian Neoplasms ISO RGD:730938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:10072423|PMID:11971093|PMID:12116199|PMID:12629236|PMID:12719539|PMID:12730996|PMID:12764050|PMID:14519684|PMID:15823482|PMID:16049031|PMID:16227559|PMID:16367892|PMID:16476817|PMID:16714300|PMID:17766365|PMID:18211709|PMID:18519021|PMID:18973255|PMID:19205068|PMID:19405094|PMID:19636047|PMID:23275044|PMID:24167364|PMID:25591737|PMID:25741868|PMID:25877876|PMID:25939424|PMID:26274610|PMID:26467025|PMID:26556299|PMID:28492532|PMID:28862745|PMID:30200940|PMID:30994895|PMID:31409571|PMID:32870915|PMID:33045815|PMID:34426522 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9002928 Colonic Neoplasms ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19946270 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9002955 Nerve Degeneration ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17687034 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:62089 D RGD:9068941 20200609 RGD PMID:28522833|REF_RGD_ID:13432569 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9005172 Lung Neoplasms ISO RGD:730938 D RGD:7240710 20180130 OMIM 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9005930 Endotoxemia ISO RGD:62089 D RGD:9068941 20200609 RGD protein:increased expression:liver, mitochondrion (mouse) PMID:28615325|REF_RGD_ID:13432559 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9006205 Animal Disease Models ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15882845 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9008023 Memory Disorders ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12915482 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9255 frontotemporal dementia disease_progression ISO RGD:62089 D RGD:9068941 20200609 RGD PMID:18817929|REF_RGD_ID:10412726 12245153 PRKN parkin RBR E3 ubiquitin protein ligase gene DOID:9352 type 2 diabetes mellitus ISO RGD:61797 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (rat) PMID:28573460|REF_RGD_ID:13432564 12245170 UGT2A3 UDP glucuronosyltransferase family 2 member A3 gene DOID:0060041 autism spectrum disorder ISO RGD:1605934 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12245170 UGT2A3 UDP glucuronosyltransferase family 2 member A3 gene DOID:630 genetic disease ISO RGD:1605934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245170 UGT2A3 UDP glucuronosyltransferase family 2 member A3 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1605934 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12245225 GSS glutathione synthetase gene DOID:0080699 glutathione synthetase deficiency ISO RGD:735330 D RGD:9068941 20220224 RGD DNA:missense mutations:cds:multiple (human) PMID:9215686|REF_RGD_ID:1302516 12245225 GSS glutathione synthetase gene DOID:0080699 glutathione synthetase deficiency ISO RGD:735330 D RGD:9068941 20220224 RGD DNA:mutations: :multiple (human) PMID:8896573|REF_RGD_ID:1599324 12245225 GSS glutathione synthetase gene DOID:0080699 glutathione synthetase deficiency ISO RGD:735330 D RGD:9068941 20220303 CTD CTD Direct Evidence: marker/mechanism 12245225 GSS glutathione synthetase gene DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria ISO RGD:735330 D RGD:7240710 20220223 OMIM 12245225 GSS glutathione synthetase gene DOID:0112252 glutathione synthetase deficiency of erythrocytes ISO RGD:735330 D RGD:7240710 20180130 OMIM 12245225 GSS glutathione synthetase gene DOID:0112252 glutathione synthetase deficiency of erythrocytes ISO RGD:735330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to PMID:11167850|PMID:15717202|PMID:25741868|PMID:28492532|PMID:5476481|PMID:8896573 12245225 GSS glutathione synthetase gene DOID:10652 Alzheimer's disease ISO RGD:735330 D RGD:9068941 20200609 RGD PMID:15693022|REF_RGD_ID:5508441 12245225 GSS glutathione synthetase gene DOID:2773 contact dermatitis ISO RGD:735330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12245225 GSS glutathione synthetase gene DOID:2843 long QT syndrome ISO RGD:735330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12245225 GSS glutathione synthetase gene DOID:305 carcinoma ISO RGD:735330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12245225 GSS glutathione synthetase gene DOID:403 mouth disease ISO RGD:735330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 12245225 GSS glutathione synthetase gene DOID:5419 schizophrenia ISO RGD:735330 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12245225 GSS glutathione synthetase gene DOID:630 genetic disease ISO RGD:735330 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15717202|PMID:17479648|PMID:17576681|PMID:25741868|PMID:25851806|PMID:28492532|PMID:28822442|PMID:8896573|PMID:9536098 12245225 GSS glutathione synthetase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12245225 GSS glutathione synthetase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12245225 GSS glutathione synthetase gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:2752 D RGD:9068941 20200609 RGD PMID:17897920|REF_RGD_ID:11353819 12245252 KCNMB4 potassium calcium-activated channel subfamily M regulatory beta subunit 4 gene DOID:630 genetic disease ISO RGD:1343155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245259 MLIP muscular LMNA interacting protein gene DOID:630 genetic disease ISO RGD:1315218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245259 MLIP muscular LMNA interacting protein gene DOID:9001244 Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis ISO RGD:1315218 D RGD:7240710 20221214 OMIM 12245259 MLIP muscular LMNA interacting protein gene DOID:9001244 Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis ISO RGD:1315218 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis PMID:34581780|PMID:34935254|PMID:35672413|PMID:35915960 12245309 HAUS5 HAUS augmin like complex subunit 5 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1317198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12245309 HAUS5 HAUS augmin like complex subunit 5 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1317198 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12245309 HAUS5 HAUS augmin like complex subunit 5 gene DOID:543 dystonia ISO RGD:1317198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12245309 HAUS5 HAUS augmin like complex subunit 5 gene DOID:630 genetic disease ISO RGD:1317198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245336 ARHGAP19 Rho GTPase activating protein 19 gene DOID:630 genetic disease ISO RGD:1351019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245355 ACBD5 acyl-CoA binding domain containing 5 gene DOID:0050572 cone-rod dystrophy ISO RGD:1319743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:28492532 12245355 ACBD5 acyl-CoA binding domain containing 5 gene DOID:0080946 retinal dystrophy with leukodystrophy ISO RGD:1319743 D RGD:7240710 20200819 OMIM 12245355 ACBD5 acyl-CoA binding domain containing 5 gene DOID:0080946 retinal dystrophy with leukodystrophy ISO RGD:1319743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy with leukodystrophy PMID:23105016|PMID:25741868|PMID:28492532 12245355 ACBD5 acyl-CoA binding domain containing 5 gene DOID:1588 thrombocytopenia ISO RGD:1319743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532 12245355 ACBD5 acyl-CoA binding domain containing 5 gene DOID:630 genetic disease ISO RGD:1319743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12245355 ACBD5 acyl-CoA binding domain containing 5 gene DOID:9003390 Thrombocytopenia 2 ISO RGD:1319743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 2 PMID:25741868|PMID:28492532 12245355 ACBD5 acyl-CoA binding domain containing 5 gene DOID:9005280 Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities ISO RGD:1319743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities PMID:25741868 12245355 ACBD5 acyl-CoA binding domain containing 5 gene DOID:906 peroxisomal disease ISO RGD:1319744 D RGD:9068941 20220825 MouseDO 12245387 PITRM1 pitrilysin metallopeptidase 1 gene DOID:0060673 Peters anomaly ISO RGD:1322218 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459|PMID:28492532 12245387 PITRM1 pitrilysin metallopeptidase 1 gene DOID:0080126 mitochondrial DNA depletion syndrome 7 ISO RGD:1322218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia PMID:29764912 12245387 PITRM1 pitrilysin metallopeptidase 1 gene DOID:5419 schizophrenia ISO RGD:1322218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12245387 PITRM1 pitrilysin metallopeptidase 1 gene DOID:630 genetic disease ISO RGD:1322218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12245387 PITRM1 pitrilysin metallopeptidase 1 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1322218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29216386 12245387 PITRM1 pitrilysin metallopeptidase 1 gene DOID:9006343 Autosomal Recessive Spinocerebellar Ataxia 30 ISO RGD:1322218 D RGD:7240710 20210728 OMIM 12245387 PITRM1 pitrilysin metallopeptidase 1 gene DOID:9006343 Autosomal Recessive Spinocerebellar Ataxia 30 ISO RGD:1322218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 30 PMID:26697887|PMID:29383861|PMID:29764912 12245418 RBP7 retinol binding protein 7 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1348730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12245418 RBP7 retinol binding protein 7 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1348730 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12245418 RBP7 retinol binding protein 7 gene DOID:0111936 immunodeficiency 14 ISO RGD:1348730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 12245418 RBP7 retinol binding protein 7 gene DOID:630 genetic disease ISO RGD:1348730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245430 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:730972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12245430 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:730972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 12245430 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:10283 prostate cancer ISO RGD:730972 D RGD:9068941 20210806 RGD PMID:15026365|REF_RGD_ID:1581413 12245430 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:730972 D RGD:9068941 20210806 RGD PMID:15026365|REF_RGD_ID:1581413 12245430 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:1115 sarcoma treatment ISO RGD:730972 D RGD:9068941 20220303 RGD PMID:31089155|REF_RGD_ID:151660332 12245430 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:3407 carotid artery disease ISO RGD:730972 D RGD:9068941 20210806 RGD PMID:12801623|REF_RGD_ID:1581414 12245430 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:630 genetic disease ISO RGD:730972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245430 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730972 D RGD:9068941 20210806 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 12245430 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:783 end stage renal disease ISO RGD:730972 D RGD:9068941 20210806 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 12245430 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:8725 vascular dementia ISO RGD:730972 D RGD:9068941 20210806 RGD DNA:SNPs, haplotype: :24489C>T, 34995G>T, 68891C>T (human) PMID:16082694|REF_RGD_ID:1581412 12245430 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:730972 D RGD:9068941 20210806 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12245430 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:9000808 Hypercholesterolemia ISO RGD:730972 D RGD:9068941 20210806 RGD PMID:18095312|REF_RGD_ID:2308813 12245430 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:9000808 Hypercholesterolemia ISO RGD:730972 D RGD:9068941 20210806 RGD DNA:mutations:exon:p.V623M, p.R645Q (human) PMID:11950857|REF_RGD_ID:1625197 12245430 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:9000808 Hypercholesterolemia ISO RGD:730972 D RGD:9068941 20210806 RGD DNA:polymorphism: :1784G>C (human) PMID:15547298|REF_RGD_ID:1581415 12245430 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:9000918 Disease Progression ISO RGD:730972 D RGD:9068941 20210806 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12245430 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730972 D RGD:9068941 20210806 CTD CTD Direct Evidence: marker/mechanism PMID:30394316 12245430 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:9007692 Insulin Resistance ISO RGD:730972 D RGD:9068941 20210806 CTD CTD Direct Evidence: marker/mechanism PMID:20699619 12245430 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730972 D RGD:9068941 20210806 CTD CTD Direct Evidence: marker/mechanism PMID:30394316 12245430 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730972 D RGD:9068941 20210806 RGD PMID:15644403|REF_RGD_ID:1581419 12245430 SREBF2 sterol regulatory element binding transcription factor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730972 D RGD:9068941 20210806 RGD PMID:18682608|REF_RGD_ID:2308812 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:0050553 JMP syndrome ISO RGD:1350403 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:0050563 nonsyndromic deafness ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Deafness PMID:25633957 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:0060465 fibrochondrogenesis ISO RGD:1350403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1350403 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive ISO RGD:1350403 D RGD:7240710 20180130 OMIM 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Insley-Astley syndrome | ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive PMID:10677296|PMID:15558753|PMID:15922184|PMID:16637051|PMID:17576681|PMID:21204229|PMID:22938506|PMID:23967202|PMID:24033266|PMID:25240749|PMID:25633957|PMID:25741868|PMID:26467025|PMID:26691295|PMID:27068579|PMID:28492532|PMID:28692176|PMID:30311386|PMID:32747562|PMID:7859284|PMID:9188673|PMID:9536098 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:0080046 Stickler syndrome ISO RGD:1350403 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Stickler Syndrome, Dominant PMID:15922184|PMID:22938506|PMID:23967202|PMID:24033266|PMID:25240749|PMID:25633957|PMID:25741868|PMID:26467025|PMID:26691295|PMID:27068579|PMID:28492532 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:25741868|PMID:28492532 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:0080672 fibrochondrogenesis 1 ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 1 PMID:24033266|PMID:25741868|PMID:28492532 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:0080673 fibrochondrogenesis 2 ISO RGD:1350403 D RGD:7240710 20180130 OMIM 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:0080673 fibrochondrogenesis 2 ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 2 PMID:10677296|PMID:15558753|PMID:15922184|PMID:17576681|PMID:21204229|PMID:22246659|PMID:22938506|PMID:23967202|PMID:24033266|PMID:25240749|PMID:25633957|PMID:25741868|PMID:26467025|PMID:26691295|PMID:27068579|PMID:28492532|PMID:28692176|PMID:30311386|PMID:9536098 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant ISO RGD:1350403 D RGD:7240710 20180130 OMIM 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant | ClinVar Annotator: match by term: Pierre Robin syndrome with fetal chondrodysplasia PMID:10677296|PMID:14234962|PMID:15372529|PMID:15558753|PMID:15922184|PMID:17576681|PMID:21204229|PMID:22938506|PMID:23967202|PMID:24033266|PMID:25240749|PMID:25633957|PMID:25741868|PMID:26467025|PMID:26691295|PMID:26969326|PMID:27068579|PMID:28492532|PMID:28692176|PMID:30311386|PMID:33297549|PMID:33348901|PMID:7833911|PMID:7859284|PMID:9506662|PMID:9536098|PMID:9805126 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:0110509 autosomal recessive nonsyndromic deafness 53 ISO RGD:1350403 D RGD:7240710 20180130 OMIM 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:0110509 autosomal recessive nonsyndromic deafness 53 ISO RGD:1350403 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 53 PMID:10677296|PMID:15558753|PMID:16033917|PMID:21204229|PMID:22246659|PMID:23967202|PMID:24033266|PMID:25633957|PMID:25741868|PMID:26445815|PMID:28492532|PMID:29456477|PMID:30311386|PMID:31299979|PMID:31680349|PMID:33111345 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:0110545 autosomal dominant nonsyndromic deafness 13 ISO RGD:1350403 D RGD:7240710 20180130 OMIM 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:0110545 autosomal dominant nonsyndromic deafness 13 ISO RGD:1350403 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 13 PMID:10581026|PMID:10677296|PMID:15372529|PMID:15558753|PMID:21204229|PMID:23967202|PMID:24033266|PMID:25633957|PMID:25741868|PMID:26969326|PMID:28492532|PMID:35802133|PMID:36633841 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:0110914 infantile hypophosphatasia ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile hypophosphatasia PMID:28492532 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:10003 sensorineural hearing loss ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:1059 intellectual disability ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:1222 cartilage disease ISO RGD:1350403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11668593 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:14250 Down syndrome ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complete trisomy 21 syndrome PMID:28492532|PMID:30311386 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:1682 congenital heart disease ISO RGD:1350403 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:10677296|PMID:21204229|PMID:22246659|PMID:24033266|PMID:25741868|PMID:26445815|PMID:28492532|PMID:29456477|PMID:31299979|PMID:31680349|PMID:33111345 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:1350403 D RGD:9068941 20200609 RGD otospondylomegaepiphyseal dysplasia, OMIM:215150;DNA:mutations PMID:10677296|REF_RGD_ID:1600883 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:3081 cystic lymphangioma ISO RGD:1350403 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cystic hygroma PMID:10677296|PMID:21204229|PMID:22246659|PMID:24033266|PMID:25741868|PMID:26445815|PMID:28492532|PMID:29456477|PMID:31299979|PMID:31680349|PMID:33111345 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1350403 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: WEISSENBACHER-ZWEYMULLER SYNDROME | ClinVar Annotator: match by term: Weissenbacher-Zweymuller syndrome PMID:10677296|PMID:15372529|PMID:15558753|PMID:23967202|PMID:24033266|PMID:25633957|PMID:25741868|PMID:28492532 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: WEISSENBACHER-ZWEYMULLER SYNDROME | ClinVar Annotator: match by term: Weissenbacher-Zweymuller syndrome PMID:10677296|PMID:15372529|PMID:15558753|PMID:21204229|PMID:23967202|PMID:24033266|PMID:25633957|PMID:25741868|PMID:26969326|PMID:28492532 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:630 genetic disease ISO RGD:1350403 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:65 connective tissue disease ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:15922184|PMID:24033266|PMID:25240749|PMID:25633957|PMID:25741868|PMID:26691295|PMID:28492532|PMID:30311386 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:65 connective tissue disease ISO RGD:1350403 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:15922184|PMID:23967202|PMID:24033266|PMID:25240749|PMID:25633957|PMID:25741868|PMID:26467025|PMID:26691295|PMID:27068579|PMID:28492532|PMID:28692176|PMID:30311386 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:674 cleft palate ISO RGD:1350403 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :multiple PMID:20672350|REF_RGD_ID:12436724 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:674 cleft palate ISO RGD:1350403 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :rs3129208 (human) PMID:22112025|REF_RGD_ID:12904711 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:8501 fundus dystrophy ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:9003816 Macrocephaly ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:24033266|PMID:28492532 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:9004538 Hearing Loss ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:16033917|PMID:24033266|PMID:25633957|PMID:25741868|PMID:28492532|PMID:30311386|PMID:33229591 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:9006294 Congenital Limb Deformities ISO RGD:1350403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16637051 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:9007661 Dwarfism IAGP D RGD:12801476 20210603 OMIA Skeletal dysplasia 2, COL11A2-related PMID:23527306 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:24033266|PMID:28492532 12245456 COL11A2 collagen type XI alpha 2 chain gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1350403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16637051 12245546 MMS22L MMS22 like, DNA repair protein gene DOID:630 genetic disease ISO RGD:1312286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245574 BVES blood vessel epicardial substance gene DOID:0110290 autosomal recessive limb-girdle muscular dystrophy type 2X ISO RGD:1344210 D RGD:7240710 20190315 OMIM 12245574 BVES blood vessel epicardial substance gene DOID:0110290 autosomal recessive limb-girdle muscular dystrophy type 2X ISO RGD:1344210 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2X PMID:25741868|PMID:26642364|PMID:28492532|PMID:31119192|PMID:35660068 12245574 BVES blood vessel epicardial substance gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1344210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:25741868|PMID:31119192 12245574 BVES blood vessel epicardial substance gene DOID:630 genetic disease ISO RGD:1344210 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12245595 FEZ2 fasciculation and elongation protein zeta 2 gene DOID:630 genetic disease ISO RGD:735511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245595 FEZ2 fasciculation and elongation protein zeta 2 gene DOID:9004657 Weight Gain ISO RGD:735511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12245595 FEZ2 fasciculation and elongation protein zeta 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:735511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12245612 PRDM5 PR/SET domain 5 gene DOID:0080729 brittle cornea syndrome 2 ISO RGD:1318295 D RGD:7240710 20180130 OMIM 12245612 PRDM5 PR/SET domain 5 gene DOID:0080729 brittle cornea syndrome 2 ISO RGD:1318295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome 2 PMID:17576681|PMID:21664999|PMID:22122778|PMID:25741868|PMID:26395458|PMID:28492532|PMID:33739556|PMID:34008892|PMID:8458232|PMID:9536098 12245612 PRDM5 PR/SET domain 5 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:1318295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 PMID:26489929 12245612 PRDM5 PR/SET domain 5 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1318295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:21664999|PMID:25741868|PMID:26395458|PMID:28492532|PMID:33739556|PMID:34008892 12245612 PRDM5 PR/SET domain 5 gene DOID:14775 brittle cornea syndrome 1 ISO RGD:1318295 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility PMID:25741868|PMID:28492532 12245612 PRDM5 PR/SET domain 5 gene DOID:630 genetic disease ISO RGD:1318295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12245612 PRDM5 PR/SET domain 5 gene DOID:65 connective tissue disease ISO RGD:1318295 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 12245612 PRDM5 PR/SET domain 5 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1318295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 12245612 PRDM5 PR/SET domain 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12245632 POLR2D RNA polymerase II subunit D gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1318411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 12245632 POLR2D RNA polymerase II subunit D gene DOID:630 genetic disease ISO RGD:1318411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245643 MTFR2 mitochondrial fission regulator 2 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1344625 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12245643 MTFR2 mitochondrial fission regulator 2 gene DOID:0111955 immunodeficiency 27A ISO RGD:1344625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 12245643 MTFR2 mitochondrial fission regulator 2 gene DOID:630 genetic disease ISO RGD:1344625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245654 RASEF RAS and EF-hand domain containing gene DOID:630 genetic disease ISO RGD:1315020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245680 ABHD17A abhydrolase domain containing 17A, depalmitoylase gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1347246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12245680 ABHD17A abhydrolase domain containing 17A, depalmitoylase gene DOID:5339 cyclic hematopoiesis ISO RGD:1347246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12245680 ABHD17A abhydrolase domain containing 17A, depalmitoylase gene DOID:630 genetic disease ISO RGD:1347246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245680 ABHD17A abhydrolase domain containing 17A, depalmitoylase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12245689 ZNF214 zinc finger protein 214 gene DOID:630 genetic disease ISO RGD:1349128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245707 LAG3 lymphocyte activating 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1344873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12245707 LAG3 lymphocyte activating 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1344873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12245707 LAG3 lymphocyte activating 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1344873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12245707 LAG3 lymphocyte activating 3 gene DOID:630 genetic disease ISO RGD:1344873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245707 LAG3 lymphocyte activating 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1344873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12245718 KLF6 KLF transcription factor 6 gene DOID:0080600 COVID-19 ISO RGD:1349381 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12245718 KLF6 KLF transcription factor 6 gene DOID:10283 prostate cancer ISO RGD:1349381 D RGD:7240710 20180418 OMIM 12245718 KLF6 KLF transcription factor 6 gene DOID:10534 stomach cancer ISO RGD:1349381 D RGD:7240710 20220209 OMIM 12245718 KLF6 KLF transcription factor 6 gene DOID:10534 stomach cancer ISO RGD:1349381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric cancer 12245718 KLF6 KLF transcription factor 6 gene DOID:5419 schizophrenia ISO RGD:1349381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12245718 KLF6 KLF transcription factor 6 gene DOID:630 genetic disease ISO RGD:1349381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245718 KLF6 KLF transcription factor 6 gene DOID:9000217 Stomach Neoplasms ISO RGD:1349381 D RGD:9068941 20220217 CTD CTD Direct Evidence: marker/mechanism 12245718 KLF6 KLF transcription factor 6 gene DOID:9000466 Prostate Cancer, Somatic ISO RGD:1349381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer, somatic PMID:11752579 12245718 KLF6 KLF transcription factor 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12245718 KLF6 KLF transcription factor 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12245718 KLF6 KLF transcription factor 6 gene DOID:9006024 Hypotension ISO RGD:1349381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotension PMID:28492532 12245726 TMPRSS2 transmembrane serine protease 2 gene DOID:0080599 Coronavirus infectious disease ISO RGD:152020083 D RGD:9068941 20220428 CTD CTD Direct Evidence: marker/mechanism PMID:24027332|PMID:24227843|PMID:27550352|PMID:27733646|PMID:28778717 12245726 TMPRSS2 transmembrane serine protease 2 gene DOID:0080600 COVID-19 ISO RGD:152020083 D RGD:9068941 20220428 CTD CTD Direct Evidence: marker/mechanism PMID:32142651|PMID:32165541|PMID:32404436 12245726 TMPRSS2 transmembrane serine protease 2 gene DOID:12849 autistic disorder ISO RGD:152020083 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12245726 TMPRSS2 transmembrane serine protease 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:152020083 D RGD:9068941 20220428 CTD CTD Direct Evidence: marker/mechanism PMID:22496216|PMID:24227843|PMID:30626688 12245726 TMPRSS2 transmembrane serine protease 2 gene DOID:630 genetic disease ISO RGD:152020083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245726 TMPRSS2 transmembrane serine protease 2 gene DOID:9001488 Human Influenza ISO RGD:152020083 D RGD:9068941 20220428 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20237084|PMID:21123387|PMID:23072892|PMID:26889029|PMID:28778717|PMID:31391268 12245726 TMPRSS2 transmembrane serine protease 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:152020083 D RGD:9068941 20220428 CTD CTD Direct Evidence: marker/mechanism PMID:18798265|PMID:25735316|PMID:28783165|PMID:29610475 12245726 TMPRSS2 transmembrane serine protease 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:152020083 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12245726 TMPRSS2 transmembrane serine protease 2 gene DOID:9008104 Cancer Pain ISO RGD:152020083 D RGD:9068941 20220428 CTD CTD Direct Evidence: marker/mechanism PMID:25734995 12245743 RTP1 receptor transporter protein 1 gene DOID:0060575 3MC syndrome 1 ISO RGD:1604751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 12245743 RTP1 receptor transporter protein 1 gene DOID:630 genetic disease ISO RGD:1604751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245748 H2AC13 H2A clustered histone 13 gene DOID:630 genetic disease ISO RGD:1344301 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245753 PFAS phosphoribosylformylglycinamidine synthase gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1312648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12245753 PFAS phosphoribosylformylglycinamidine synthase gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1312648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:28492532 12245753 PFAS phosphoribosylformylglycinamidine synthase gene DOID:234 colon adenocarcinoma ISO RGD:1312648 D RGD:9068941 20211119 RGD PMID:6722784|REF_RGD_ID:5135276 12245753 PFAS phosphoribosylformylglycinamidine synthase gene DOID:2729 dyskeratosis congenita ISO RGD:1312648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:16199547|PMID:17576681|PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:24115768|PMID:25741868|PMID:28492532|PMID:29111009|PMID:29481669|PMID:9536098 12245753 PFAS phosphoribosylformylglycinamidine synthase gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1312648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12245753 PFAS phosphoribosylformylglycinamidine synthase gene DOID:3905 lung carcinoma ISO RGD:1614154 D RGD:9068941 20211119 RGD PMID:6722784|REF_RGD_ID:5135276 12245753 PFAS phosphoribosylformylglycinamidine synthase gene DOID:4450 renal cell carcinoma ISO RGD:1312648 D RGD:9068941 20211119 RGD PMID:6722784|REF_RGD_ID:5135276 12245753 PFAS phosphoribosylformylglycinamidine synthase gene DOID:630 genetic disease ISO RGD:1312648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12245753 PFAS phosphoribosylformylglycinamidine synthase gene DOID:684 hepatocellular carcinoma ISO RGD:1304926 D RGD:9068941 20200609 RGD protein:increased activity:hepatoma (rat) PMID:6722784|REF_RGD_ID:5135276 12245753 PFAS phosphoribosylformylglycinamidine synthase gene DOID:684 hepatocellular carcinoma ISO RGD:1312648 D RGD:9068941 20211119 RGD protein:increased expression:liver PMID:6722784|REF_RGD_ID:5135276 12245753 PFAS phosphoribosylformylglycinamidine synthase gene DOID:9003371 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 ISO RGD:1312648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 PMID:22267198|PMID:22387016|PMID:24115768|PMID:25741868|PMID:28492532|PMID:29111009|PMID:29481669 12245753 PFAS phosphoribosylformylglycinamidine synthase gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:1312648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive 12245753 PFAS phosphoribosylformylglycinamidine synthase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1304926 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:3043317|REF_RGD_ID:5135485 12245796 PPP2R5A protein phosphatase 2 regulatory subunit B'alpha gene DOID:1540 parathyroid carcinoma ISO RGD:1317550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12245796 PPP2R5A protein phosphatase 2 regulatory subunit B'alpha gene DOID:630 genetic disease ISO RGD:1317550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245796 PPP2R5A protein phosphatase 2 regulatory subunit B'alpha gene DOID:9002884 Emphysema ISO RGD:1317550 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22223484 12245796 PPP2R5A protein phosphatase 2 regulatory subunit B'alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12245813 SLC7A7 solute carrier family 7 member 7 gene DOID:0060439 lysinuric protein intolerance ISO RGD:733448 D RGD:7240710 20180130 OMIM 12245813 SLC7A7 solute carrier family 7 member 7 gene DOID:0060439 lysinuric protein intolerance ISO RGD:733448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:10080182|PMID:10080183|PMID:10631139|PMID:10655553|PMID:10737982|PMID:10980538|PMID:11377971|PMID:11544277|PMID:11883940|PMID:12402335|PMID:15756301|PMID:15776427|PMID:16199547|PMID:17530437|PMID:17576681|PMID:17666782|PMID:17764084|PMID:18716612|PMID:18846669|PMID:20301535|PMID:21110863|PMID:21716135|PMID:22325938|PMID:23430825|PMID:23542076|PMID:23772603|PMID:23940088|PMID:25326635|PMID:25419514|PMID:25614305|PMID:25640679|PMID:25741868|PMID:26865117|PMID:28028301|PMID:28492532|PMID:29058386|PMID:29795570|PMID:30054302|PMID:30832686|PMID:31014432|PMID:31211457|PMID:31427715|PMID:32249831|PMID:32542393|PMID:34095032|PMID:9536098|PMID:9829974 12245813 SLC7A7 solute carrier family 7 member 7 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:733448 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10631139|PMID:15776427|PMID:17764084|PMID:20301535|PMID:25741868|PMID:28492532|PMID:29795570|PMID:34095032 12245813 SLC7A7 solute carrier family 7 member 7 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:733448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10631139|PMID:15776427|PMID:17530437|PMID:17764084|PMID:20301535|PMID:25741868|PMID:28492532|PMID:29795570|PMID:34095032 12245813 SLC7A7 solute carrier family 7 member 7 gene DOID:630 genetic disease ISO RGD:733448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12245813 SLC7A7 solute carrier family 7 member 7 gene DOID:9000265 Specific Granule Deficiency ISO RGD:733448 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12245813 SLC7A7 solute carrier family 7 member 7 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:733448 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12245813 SLC7A7 solute carrier family 7 member 7 gene DOID:9252 amino acid metabolic disorder ISO RGD:733448 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11544277 12245832 SERPINA4 serpin family A member 4 gene DOID:0081063 DICER1 syndrome ISO RGD:1348774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 12245832 SERPINA4 serpin family A member 4 gene DOID:1790 malignant mesothelioma ISO RGD:1348774 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 12245832 SERPINA4 serpin family A member 4 gene DOID:630 genetic disease ISO RGD:1348774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245832 SERPINA4 serpin family A member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1348774 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19709125 12245832 SERPINA4 serpin family A member 4 gene DOID:8947 diabetic retinopathy ISO RGD:1348774 D RGD:9068941 20200609 RGD protein:decreased expression:vitreous fluid (human) PMID:8950506|REF_RGD_ID:1580289 12245832 SERPINA4 serpin family A member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12245841 KRT36 keratin 36 gene DOID:630 genetic disease ISO RGD:1314039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245852 RMC1 regulator of MON1-CCZ1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1323450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 12245852 RMC1 regulator of MON1-CCZ1 gene DOID:1059 intellectual disability ISO RGD:1323450 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12245875 NKX2-8 NK2 homeobox 8 gene DOID:0080016 spina bifida IAGP D RGD:12801476 20210603 OMIA Spinal dysraphism PMID:5893238|PMID:5023160|PMID:5339905|PMID:22843830|PMID:8578905|PMID:1641930|PMID:23874236|PMID:6756222|PMID:6756221|PMID:4434313|PMID:4732250|PMID:5318050 12245875 NKX2-8 NK2 homeobox 8 gene DOID:12859 choreatic disease ISO RGD:1321643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign hereditary chorea PMID:11971878 12245875 NKX2-8 NK2 homeobox 8 gene DOID:630 genetic disease ISO RGD:1321643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245875 NKX2-8 NK2 homeobox 8 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321643 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12245880 EYA3 EYA transcriptional coactivator and phosphatase 3 gene DOID:630 genetic disease ISO RGD:1320540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245904 WWOX WW domain containing oxidoreductase gene DOID:0050562 West syndrome ISO RGD:1320534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive PMID:25741868|PMID:28492532|PMID:29808465|PMID:30356099|PMID:30853297 12245904 WWOX WW domain containing oxidoreductase gene DOID:0060041 autism spectrum disorder ISO RGD:1320534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12245904 WWOX WW domain containing oxidoreductase gene DOID:0080060 autosomal recessive spinocerebellar ataxia 12 ISO RGD:1320534 D RGD:7240710 20180130 OMIM 12245904 WWOX WW domain containing oxidoreductase gene DOID:0080060 autosomal recessive spinocerebellar ataxia 12 ISO RGD:1320534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY PMID:11572989|PMID:16199547|PMID:17470496|PMID:17576681|PMID:20480411|PMID:21983861|PMID:24082139|PMID:24369382|PMID:24456803|PMID:25411445|PMID:25612104|PMID:25741868|PMID:26467025|PMID:27884173|PMID:27959697|PMID:28492532|PMID:29358611|PMID:29675105|PMID:29808465|PMID:29905011|PMID:30356099|PMID:30853297|PMID:31216405|PMID:32214227|PMID:9536098 12245904 WWOX WW domain containing oxidoreductase gene DOID:0080452 developmental and epileptic encephalopathy 28 ISO RGD:1320534 D RGD:7240710 20180130 OMIM 12245904 WWOX WW domain containing oxidoreductase gene DOID:0080452 developmental and epileptic encephalopathy 28 ISO RGD:1320534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28 PMID:11572989|PMID:16199547|PMID:17576681|PMID:20480411|PMID:21983861|PMID:24082139|PMID:24456803|PMID:25411445|PMID:25558065|PMID:25612104|PMID:25741868|PMID:26467025|PMID:27717089|PMID:27848944|PMID:27884173|PMID:28492532|PMID:29358611|PMID:29675105|PMID:29808465|PMID:29852413|PMID:29905011|PMID:30356099|PMID:30746283|PMID:30853297|PMID:30919572|PMID:31216405|PMID:31618474|PMID:31623504|PMID:9536098 12245904 WWOX WW domain containing oxidoreductase gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1320534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome | ClinVar Annotator: match by term: X-linked infantile spasms PMID:11572989|PMID:11956080|PMID:16199547|PMID:17576681|PMID:20480411|PMID:21983861|PMID:24082139|PMID:24369382|PMID:24456803|PMID:25403906|PMID:25411445|PMID:25558065|PMID:25612104|PMID:25640679|PMID:25741868|PMID:26077850|PMID:26467025|PMID:27495153|PMID:27569545|PMID:27717089|PMID:27848944|PMID:27884173|PMID:27959697|PMID:28130116|PMID:28492532|PMID:29358611|PMID:29390993|PMID:29675105|PMID:29808465|PMID:29852413|PMID:29905011|PMID:30356099|PMID:30746283|PMID:30853297|PMID:30919572|PMID:31130284|PMID:31216405|PMID:31618474|PMID:31623504|PMID:31780880|PMID:31957018|PMID:9536098 12245904 WWOX WW domain containing oxidoreductase gene DOID:0110256 cataract 21 multiple types ISO RGD:1320534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 21 multiple types PMID:28492532 12245904 WWOX WW domain containing oxidoreductase gene DOID:1059 intellectual disability ISO RGD:1320534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12245904 WWOX WW domain containing oxidoreductase gene DOID:10652 Alzheimer's disease ISO RGD:1320534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30820047 12245904 WWOX WW domain containing oxidoreductase gene DOID:13374 fibrodysplasia ossificans progressiva ISO RGD:1320534 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Progressive myositis ossificans PMID:25741868 12245904 WWOX WW domain containing oxidoreductase gene DOID:1749 squamous cell carcinoma ISO RGD:1320534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17575124 12245904 WWOX WW domain containing oxidoreductase gene DOID:1749 squamous cell carcinoma ISO RGD:1320534 D RGD:9068941 20200609 RGD esophageal squamous cell carcinoma, OMIM:133239 PMID:11956080|REF_RGD_ID:1599874 12245904 WWOX WW domain containing oxidoreductase gene DOID:1826 epilepsy ISO RGD:1320534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12245904 WWOX WW domain containing oxidoreductase gene DOID:1923 disorder of sexual development ISO RGD:1320534 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 12245904 WWOX WW domain containing oxidoreductase gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1320534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 12245904 WWOX WW domain containing oxidoreductase gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1320534 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic PMID:11956080|PMID:28492532 12245904 WWOX WW domain containing oxidoreductase gene DOID:5041 esophageal cancer ISO RGD:1320534 D RGD:7240710 20180418 OMIM 12245904 WWOX WW domain containing oxidoreductase gene DOID:5041 esophageal cancer ISO RGD:1320534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Esophagus cancer PMID:24456803|PMID:25411445|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611|PMID:29808465|PMID:30356099|PMID:30853297 12245904 WWOX WW domain containing oxidoreductase gene DOID:5419 schizophrenia ISO RGD:1320534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12245904 WWOX WW domain containing oxidoreductase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 12245904 WWOX WW domain containing oxidoreductase gene DOID:630 genetic disease ISO RGD:1320534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24456803|PMID:25411445|PMID:25741868|PMID:26467025|PMID:28492532 12245904 WWOX WW domain containing oxidoreductase gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1320534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12245904 WWOX WW domain containing oxidoreductase gene DOID:9000117 Esophageal Neoplasms ISO RGD:1320534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12245904 WWOX WW domain containing oxidoreductase gene DOID:9000217 Stomach Neoplasms ISO RGD:1320534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17575124 12245904 WWOX WW domain containing oxidoreductase gene DOID:9001793 Generalized Epilepsy ISO RGD:1320534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:24456803|PMID:25411445|PMID:25741868|PMID:27848944|PMID:28492532|PMID:31623504 12245904 WWOX WW domain containing oxidoreductase gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1320534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12245904 WWOX WW domain containing oxidoreductase gene DOID:9002563 Gait Ataxia ISO RGD:1309927 D RGD:9068941 20211022 RGD compared to wild type and heterozygotes PMID:17803050|REF_RGD_ID:150429978 12245904 WWOX WW domain containing oxidoreductase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorders 12245904 WWOX WW domain containing oxidoreductase gene DOID:9004643 Urologic Neoplasms ISO RGD:1320534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23618899 12245904 WWOX WW domain containing oxidoreductase gene DOID:9006534 Nervous System Malformations ISO RGD:1320534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28492532|PMID:29808465|PMID:30356099|PMID:30853297 12245904 WWOX WW domain containing oxidoreductase gene DOID:9007661 Dwarfism ISO RGD:1309927 D RGD:9068941 20211008 RGD DNA:deletion:cds:exon 9, 13bp nucleotides 1190-1202 PMID:19500159|REF_RGD_ID:150429979 12245904 WWOX WW domain containing oxidoreductase gene DOID:9007661 Dwarfism ISO RGD:1309927 D RGD:9068941 20211022 RGD compared to wild type and heterozygotes PMID:17803050|PMID:18676360|REF_RGD_ID:150429974|REF_RGD_ID:150429978 12245904 WWOX WW domain containing oxidoreductase gene DOID:9008086 Developmental Disabilities ISO RGD:1320534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay PMID:16199547|PMID:24456803|PMID:25411445|PMID:25558065|PMID:25741868|PMID:27717089|PMID:28492532|PMID:29852413|PMID:36937954 12245904 WWOX WW domain containing oxidoreductase gene DOID:9008939 Breast Neoplasms ISO RGD:1320534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17200365 12245933 SLC39A3 solute carrier family 39 member 3 gene DOID:630 genetic disease ISO RGD:1322010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245933 SLC39A3 solute carrier family 39 member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12245940 WDR27 WD repeat domain 27 gene DOID:630 genetic disease ISO RGD:1351994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245986 FAM227B family with sequence similarity 227 member B gene DOID:2717 Bloom syndrome ISO RGD:1605268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12245986 FAM227B family with sequence similarity 227 member B gene DOID:630 genetic disease ISO RGD:1605268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12245986 FAM227B family with sequence similarity 227 member B gene DOID:9256 colorectal cancer ISO RGD:1605268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12246011 NDST2 N-deacetylase and N-sulfotransferase 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1312297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 12246011 NDST2 N-deacetylase and N-sulfotransferase 2 gene DOID:630 genetic disease ISO RGD:1312297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246011 NDST2 N-deacetylase and N-sulfotransferase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12246039 CPSF3 cleavage and polyadenylation specific factor 3 gene DOID:630 genetic disease ISO RGD:1313998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246039 CPSF3 cleavage and polyadenylation specific factor 3 gene DOID:9008601 Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures ISO RGD:1313998 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures PMID:35121750 12246072 LOC102151131 uncharacterized LOC102151131 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1347634 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12246072 LOC102151131 uncharacterized LOC102151131 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1347634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12246072 LOC102151131 uncharacterized LOC102151131 gene DOID:630 genetic disease ISO RGD:1347634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246140 SLC46A2 solute carrier family 46 member 2 gene DOID:630 genetic disease ISO RGD:1321413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246150 METTL3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1348378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11528500|PMID:23105016|PMID:28492532 12246150 METTL3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1348378 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12246150 METTL3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit gene DOID:630 genetic disease ISO RGD:1348378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246150 METTL3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit gene DOID:9002884 Emphysema ISO RGD:1348378 D RGD:9068941 20210709 CTD CTD Direct Evidence: therapeutic PMID:33660100 12246150 METTL3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1348378 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12246150 METTL3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit gene DOID:9538 multiple myeloma ISO RGD:1348378 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038059 12246165 KMO kynurenine 3-monooxygenase gene DOID:0111261 fumarase deficiency ISO RGD:737300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12761039|PMID:21398687|PMID:22069215|PMID:28300276|PMID:28492532 12246165 KMO kynurenine 3-monooxygenase gene DOID:1540 parathyroid carcinoma ISO RGD:737300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12246165 KMO kynurenine 3-monooxygenase gene DOID:1596 depressive disorder ISO RGD:620610 D RGD:9068941 20200609 RGD protein:decreased activity:plasma PMID:29217494|REF_RGD_ID:13703051 12246165 KMO kynurenine 3-monooxygenase gene DOID:3042 allergic contact dermatitis ISO RGD:737300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 12246165 KMO kynurenine 3-monooxygenase gene DOID:5419 schizophrenia ISO RGD:737300 D RGD:9068941 20200609 RGD protein:decreased activity:brain: PMID:21036897|REF_RGD_ID:13513905 12246165 KMO kynurenine 3-monooxygenase gene DOID:5419 schizophrenia treatment ISO RGD:620610 D RGD:9068941 20200609 RGD PMID:29030243|REF_RGD_ID:13703052 12246165 KMO kynurenine 3-monooxygenase gene DOID:630 genetic disease ISO RGD:737300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246165 KMO kynurenine 3-monooxygenase gene DOID:9000039 Spinal Cord Injuries ISO RGD:620610 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord: PMID:26524415|REF_RGD_ID:13703043 12246165 KMO kynurenine 3-monooxygenase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12246165 KMO kynurenine 3-monooxygenase gene DOID:9002211 Hyperalgesia treatment ISO RGD:620610 D RGD:9068941 20200609 RGD PMID:26524415|REF_RGD_ID:13703043 12246165 KMO kynurenine 3-monooxygenase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12246165 KMO kynurenine 3-monooxygenase gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:737300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 12246165 KMO kynurenine 3-monooxygenase gene DOID:9007558 Acute Experimental Pancreatitis disease_progression ISO RGD:620610 D RGD:9068941 20200609 RGD PMID:28398044|REF_RGD_ID:13703053 12246165 KMO kynurenine 3-monooxygenase gene DOID:9007558 Acute Experimental Pancreatitis disease_progression ISO RGD:734253 D RGD:9068941 20200609 RGD PMID:26752518|REF_RGD_ID:11342439 12246165 KMO kynurenine 3-monooxygenase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12246184 KIAA0319L KIAA0319 like gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12246184 KIAA0319L KIAA0319 like gene DOID:630 genetic disease ISO RGD:1605339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:0050589 inflammatory bowel disease ISO RGD:1317504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983784 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:0080690 RASopathy ISO RGD:1317504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:0081120 Graves ophthalmopathy ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1468682, rs4729535 and rs17467232 (human) PMID:17608818|REF_RGD_ID:7829763 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:0081267 graft-versus-host disease susceptibility ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-1123G>C (rs2488457) (human) PMID:23025987|REF_RGD_ID:11534005 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1317504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1317504 D RGD:9068941 20200609 RGD protein:increased expression:B cell (human) PMID:22569400|REF_RGD_ID:11535006 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:1040 chronic lymphocytic leukemia susceptibility ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:snp:cds:p.R620W (rs2476601) (human) PMID:23287625|REF_RGD_ID:11533998 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:12306 vitiligo ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp : cds: rs2476601 PMID:16015369|REF_RGD_ID:6484552 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:12306 vitiligo ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:polymorphism: :1858C>T (p.R620W) (human) PMID:18426414|REF_RGD_ID:7829737 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:12361 Graves' disease ISO RGD:1317504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21190368 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:12361 Graves' disease ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: SNP: cds: C1858T PMID:15504986|REF_RGD_ID:6484538 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:12361 Graves' disease ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:promoter:-1123G>C (human) PMID:18687223|REF_RGD_ID:7829738 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:12361 Graves' disease no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1468682, rs4729535, rs17155601, rs17467232 (human) PMID:17608818|REF_RGD_ID:7829763 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:12894 Sjogren's syndrome ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:snp:cds:c.1858C>T (human) PMID:16163373|REF_RGD_ID:11534998 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:12894 Sjogren's syndrome no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:snp:cds:c.1858C>T (human) PMID:15933742|REF_RGD_ID:11534999 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:13241 Behcet's disease ISO RGD:1317504 D RGD:9068941 20200609 RGD PMID:17660222|REF_RGD_ID:6484733 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:13241 Behcet's disease no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human) PMID:22396730|REF_RGD_ID:7829745 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:13375 temporal arteritis ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R620W (rs2476601) (human) PMID:23946333|REF_RGD_ID:7829739 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:13375 temporal arteritis no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:polymorphism: :1858C>T (human) PMID:16078327|REF_RGD_ID:7829744 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:13774 Addison's disease ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp: cds: rs2476601 PMID:18301444|REF_RGD_ID:6484549 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:1459 hypothyroidism ISO RGD:1317504 D RGD:9068941 20200609 RGD PMID:22493691|REF_RGD_ID:6484670 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:1555 urticaria ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs1310182, rs2488457, rs3811021 (human) PMID:22722472|REF_RGD_ID:7829761 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:2377 multiple sclerosis no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:missense mutation: :R620W (rs2476601) (human) PMID:15934099|REF_RGD_ID:6484550 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:289 endometriosis ISO RGD:1317504 D RGD:9068941 20200609 RGD PMID:20070289|REF_RGD_ID:6484710 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:2957 pulmonary tuberculosis ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNPs:cds:788G>A, 1858C>T (human) PMID:19563523|REF_RGD_ID:6484723 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:3393 coronary artery disease ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp: cds: rs2476601 PMID:21846984|REF_RGD_ID:6484553 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:417 autoimmune disease ISO RGD:1317504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21341673 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:418 systemic scleroderma ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp: cds: rs2476601 PMID:21131644|REF_RGD_ID:6484551 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:418 systemic scleroderma no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R620W (rs2476601) (human) PMID:16464986|REF_RGD_ID:7829741 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:437 myasthenia gravis ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp: cds: 1858T PMID:19693092|REF_RGD_ID:6484722 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:630 genetic disease ISO RGD:1317504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp : cds : rs2476601 PMID:15934099|REF_RGD_ID:6484550 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:7148 rheumatoid arthritis ISO RGD:1317504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO PMID:15004560|PMID:15208781|PMID:15273934|PMID:15580548|PMID:15719322|PMID:15744042|PMID:16273109|PMID:16339849|PMID:16470599|PMID:17170052|PMID:17436241|PMID:17554300|PMID:17878369|PMID:18301444|PMID:18978792|PMID:19265110|PMID:19430480|PMID:19898480|PMID:21841778|PMID:28492532 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:7148 rheumatoid arthritis no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNP::1858C>T (human) PMID:21467606|REF_RGD_ID:7829746 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1317504 D RGD:7240710 20190329 OMIM 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:7188 autoimmune thyroiditis ISO RGD:1317504 D RGD:9068941 20200609 RGD PMID:22374238|REF_RGD_ID:6484667 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:8778 Crohn's disease ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNP:cds:rs2476601 (human) PMID:18587394|REF_RGD_ID:6484668 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:8893 psoriasis no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:1858C>T (p.R620W) (rs2476601) (human) PMID:20039785|REF_RGD_ID:7829765 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:8893 psoriasis no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R620W (rs2476601) (human) PMID:18341666|REF_RGD_ID:7829762 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:8893 psoriasis onset ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNPs:intron, 3' utr: (rs1217414, rs3789604) (human) PMID:18341666|REF_RGD_ID:7829762 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:8893 psoriasis susceptibility ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNP:3' utr: (rs3789604) (human) PMID:18923449|REF_RGD_ID:7829764 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp: cds: C1858T PMID:21597364|REF_RGD_ID:6484673 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:8924 autoimmune thrombocytopenic purpura no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:snp:cds:c.1858C>T (rs2476601) (human) PMID:27309885|REF_RGD_ID:11535019 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9002457 Experimental Arthritis ISO RGD:1307992 D RGD:9068941 20200609 RGD protein:increased expression:metatarsophalangeal joint, mononuclear cell (rat) PMID:24998229|REF_RGD_ID:11532752 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis susceptibility ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:snp:cds:c.1858C>T (rs2476601) (human) PMID:22880107|REF_RGD_ID:11533997 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9003997 Familial Idiopathic Inflammatory Myopathy susceptibility ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:snp:cds:p.R620W (rs2476601) (human) PMID:18821667|REF_RGD_ID:11535001 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9007355 Hashimoto Disease ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp: cds: rs2476601 PMID:15719322|REF_RGD_ID:6484548 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9008 psoriatic arthritis ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp: cds: rs2476601 PMID:21410964|REF_RGD_ID:6484592 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9008 psoriatic arthritis no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:missense mutation: :R620W (rs2476601) (human) PMID:15934099|REF_RGD_ID:6484550 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9074 systemic lupus erythematosus ISO RGD:1317504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:15004560|PMID:15208781|PMID:15273934|PMID:15580548|PMID:15719322|PMID:15744042|PMID:16273109|PMID:16339849|PMID:16470599|PMID:17170052|PMID:17436241|PMID:17554300|PMID:17878369|PMID:18301444|PMID:18978792|PMID:19265110|PMID:19430480|PMID:19898480|PMID:21841778|PMID:28492532 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1317504 D RGD:7240710 20230505 OMIM 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9351 diabetes mellitus ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp: cds: C1858T PMID:18764813|REF_RGD_ID:6484729 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1317504 D RGD:9068941 20230506 CTD CTD Direct Evidence: marker/mechanism PMID:21190368|PMID:30224649 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1317504 D RGD:9068941 20230506 RGD DNA: snp: cds: C1858T PMID:15004560|REF_RGD_ID:6484524 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:1317504 D RGD:9068941 20200609 RGD PMID:21873553|REF_RGD_ID:6484692 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1317504 D RGD:7240710 20230505 OMIM 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9849 Meniere's disease ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R620W (c.1858C>T) (rs2476601) (human) PMID:19780033|REF_RGD_ID:7829747 12246208 PTPN22 protein tyrosine phosphatase non-receptor type 22 gene DOID:986 alopecia areata severity ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:snp:cds:c.1858C>T (human) PMID:16829308|REF_RGD_ID:6484734 12246208 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) gene DOID:417 autoimmune disease ISO RGD:1552858 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R619W (mouse) PMID:23619366|REF_RGD_ID:7829736 12246237 BPIFB2 BPI fold containing family B member 2 gene DOID:630 genetic disease ISO RGD:1322016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246254 ECEL1 endothelin converting enzyme like 1 gene DOID:0050646 distal arthrogryposis ISO RGD:62098 D RGD:9068941 20220825 MouseDO OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065 12246254 ECEL1 endothelin converting enzyme like 1 gene DOID:0060476 Perlman syndrome ISO RGD:731078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12246254 ECEL1 endothelin converting enzyme like 1 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:731078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:31694722 12246254 ECEL1 endothelin converting enzyme like 1 gene DOID:0110991 Joubert syndrome 22 ISO RGD:731078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12246254 ECEL1 endothelin converting enzyme like 1 gene DOID:0111594 distal arthrogryposis type 5D ISO RGD:731078 D RGD:7240710 20180130 OMIM 12246254 ECEL1 endothelin converting enzyme like 1 gene DOID:0111594 distal arthrogryposis type 5D ISO RGD:731078 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis type 5D PMID:18414213|PMID:23236030|PMID:23261301|PMID:24782201|PMID:25099528|PMID:25173900|PMID:25741868|PMID:26752647|PMID:28492532|PMID:31694722|PMID:32566668 12246254 ECEL1 endothelin converting enzyme like 1 gene DOID:11162 respiratory failure ISO RGD:62098 D RGD:9068941 20200609 RGD PMID:10400672|REF_RGD_ID:734911 12246254 ECEL1 endothelin converting enzyme like 1 gene DOID:630 genetic disease ISO RGD:731078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31694722 12246278 IRAG2 inositol 1,4,5-triphosphate receptor associated 2 gene DOID:630 genetic disease ISO RGD:1343006 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246313 SPRY4 sprouty RTK signaling antagonist 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313286 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12246313 SPRY4 sprouty RTK signaling antagonist 4 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1313286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 12246313 SPRY4 sprouty RTK signaling antagonist 4 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1313286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12246313 SPRY4 sprouty RTK signaling antagonist 4 gene DOID:0090079 hypogonadotropic hypogonadism 17 with or without anosmia ISO RGD:1313286 D RGD:7240710 20180130 OMIM 12246313 SPRY4 sprouty RTK signaling antagonist 4 gene DOID:0090079 hypogonadotropic hypogonadism 17 with or without anosmia ISO RGD:1313286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 17 with or without anosmia PMID:23643382|PMID:24033266|PMID:28492532|PMID:32870266 12246313 SPRY4 sprouty RTK signaling antagonist 4 gene DOID:13938 amenorrhea ISO RGD:1313286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:23643382|PMID:24033266|PMID:28492532|PMID:32870266 12246313 SPRY4 sprouty RTK signaling antagonist 4 gene DOID:1921 Klinefelter syndrome ISO RGD:1313286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 12246313 SPRY4 sprouty RTK signaling antagonist 4 gene DOID:1923 disorder of sexual development ISO RGD:1313286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 12246313 SPRY4 sprouty RTK signaling antagonist 4 gene DOID:630 genetic disease ISO RGD:1313286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246313 SPRY4 sprouty RTK signaling antagonist 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12246313 SPRY4 sprouty RTK signaling antagonist 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313286 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12246313 SPRY4 sprouty RTK signaling antagonist 4 gene DOID:9119 acute myeloid leukemia ISO RGD:1313286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25822087 12246322 L3HYPDH trans-L-3-hydroxyproline dehydratase gene DOID:630 genetic disease ISO RGD:1313918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246322 L3HYPDH trans-L-3-hydroxyproline dehydratase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12246331 PCGF2 polycomb group ring finger 2 gene DOID:1059 intellectual disability ISO RGD:1352511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:15525528|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942 12246331 PCGF2 polycomb group ring finger 2 gene DOID:630 genetic disease ISO RGD:1352511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15525528|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942 12246331 PCGF2 polycomb group ring finger 2 gene DOID:9001203 Turnpenny-Fry Syndrome ISO RGD:1352511 D RGD:7240710 20190424 OMIM 12246331 PCGF2 polycomb group ring finger 2 gene DOID:9001203 Turnpenny-Fry Syndrome ISO RGD:1352511 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Turnpenny-fry syndrome PMID:15525528|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942 12246331 PCGF2 polycomb group ring finger 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1352511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:15525528|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942 12246363 CCDC167 coiled-coil domain containing 167 gene DOID:630 genetic disease ISO RGD:1352845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246377 NDP norrin cystine knot growth factor NDP gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1558298 D RGD:9068941 20220825 MouseDO OMIM:133780 | OMIM:305390 | OMIM:601813 | OMIM:605750 | OMIM:613310 12246377 NDP norrin cystine knot growth factor NDP gene DOID:0060282 persistent hyperplastic primary vitreous ISO RGD:1343189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous PMID:25741868 12246377 NDP norrin cystine knot growth factor NDP gene DOID:0060693 Brunner syndrome ISO RGD:1343189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brunner syndrome PMID:17296899|PMID:20340138|PMID:22382802|PMID:28492532|PMID:30452590|PMID:8211186 12246377 NDP norrin cystine knot growth factor NDP gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12246377 NDP norrin cystine knot growth factor NDP gene DOID:0060844 Norrie disease ISO RGD:1343189 D RGD:7240710 20180130 OMIM 12246377 NDP norrin cystine knot growth factor NDP gene DOID:0060844 Norrie disease ISO RGD:1343189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrophia bulborum hereditaria PMID:10484772|PMID:10773814|PMID:11748312|PMID:1303235|PMID:1303264|PMID:1307245|PMID:14635119|PMID:15776010|PMID:16970763|PMID:17296899|PMID:17334993|PMID:20340138|PMID:20385941|PMID:22563645|PMID:22786811|PMID:23141577|PMID:25711638|PMID:25741868|PMID:26547627|PMID:28492532|PMID:30097784|PMID:30311386|PMID:30452590|PMID:31030433|PMID:31456290|PMID:7627181|PMID:7814011|PMID:8069314|PMID:8240113|PMID:8268931|PMID:8790105|PMID:8990009|PMID:9143918|PMID:9382152 12246377 NDP norrin cystine knot growth factor NDP gene DOID:0111413 X-linked exudative vitreoretinopathy 2 ISO RGD:1343189 D RGD:7240710 20180214 OMIM 12246377 NDP norrin cystine knot growth factor NDP gene DOID:0111413 X-linked exudative vitreoretinopathy 2 ISO RGD:1343189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 2, X-linked | ClinVar Annotator: match by term: Exudative vitreoretinopathy, X-linked PMID:17050281|PMID:17296899|PMID:20491809|PMID:25741868|PMID:26158506|PMID:28492532|PMID:7558002|PMID:7795608|PMID:8252044|PMID:8457509|PMID:8535448|PMID:8832723|PMID:8946107|PMID:9143917|PMID:9382152|PMID:95062|PMID:9618247 12246377 NDP norrin cystine knot growth factor NDP gene DOID:12849 autistic disorder ISO RGD:1343189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12246377 NDP norrin cystine knot growth factor NDP gene DOID:13025 retinopathy of prematurity severity ISO RGD:1343189 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:p.R121W, p.L108P (human) PMID:9152134|REF_RGD_ID:8694210 12246377 NDP norrin cystine knot growth factor NDP gene DOID:3612 retinitis ISO RGD:1343189 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29654250 12246377 NDP norrin cystine knot growth factor NDP gene DOID:4449 macular retinal edema ISO RGD:1343189 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29654250 12246377 NDP norrin cystine knot growth factor NDP gene DOID:5327 retinal detachment ISO RGD:1343189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal detachment PMID:25741868 12246377 NDP norrin cystine knot growth factor NDP gene DOID:630 genetic disease ISO RGD:1343189 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20340138|PMID:28492532 12246377 NDP norrin cystine knot growth factor NDP gene DOID:7765 Coats disease ISO RGD:1343189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative retinopathy PMID:26908610 12246377 NDP norrin cystine knot growth factor NDP gene DOID:9002525 Hereditary Eye Diseases ISO RGD:1343189 D RGD:9068941 20200609 RGD Norrie Disease, OMIM:310600, DNA:point mutations:exon PMID:1303235|REF_RGD_ID:1600222 12246377 NDP norrin cystine knot growth factor NDP gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:1558298 D RGD:9068941 20200609 RGD PMID:20053900|REF_RGD_ID:8694208 12246377 NDP norrin cystine knot growth factor NDP gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12246377 NDP norrin cystine knot growth factor NDP gene DOID:9004538 Hearing Loss ISO RGD:1343189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:14635119|PMID:25741868|PMID:28492532|PMID:30311386|PMID:31456290 12246377 NDP norrin cystine knot growth factor NDP gene DOID:9007748 Retinal Neovascularization ISO RGD:1343189 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29654250 12246377 NDP norrin cystine knot growth factor NDP gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1343189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:25972376|PMID:28492532 12246388 GAPT GRB2 binding adaptor protein, transmembrane gene DOID:630 genetic disease ISO RGD:1604723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246388 GAPT GRB2 binding adaptor protein, transmembrane gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12246409 SYNGR2 synaptogyrin 2 gene DOID:630 genetic disease ISO RGD:732040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246431 IPCEF1 interaction protein for cytohesin exchange factors 1 gene DOID:1037 lymphoid leukemia ISO RGD:1603404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24292274 12246431 IPCEF1 interaction protein for cytohesin exchange factors 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1603404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 12246431 IPCEF1 interaction protein for cytohesin exchange factors 1 gene DOID:630 genetic disease ISO RGD:1603404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246481 SOD1 superoxide dismutase 1 gene DOID:0050700 cardiomyopathy ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:15890620|REF_RGD_ID:1581220 12246481 SOD1 superoxide dismutase 1 gene DOID:0050879 fragile X-associated tremor/ataxia syndrome ISO RGD:11329 D RGD:9068941 20200609 RGD mRNA:increased expression:prefrontal cortex, brain stem (mouse) PMID:24418349|REF_RGD_ID:8655858 12246481 SOD1 superoxide dismutase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730855 D RGD:7240710 20180130 OMIM 12246481 SOD1 superoxide dismutase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730855 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:10321246|PMID:10400992|PMID:10430435|PMID:10439968|PMID:10540008|PMID:10593307|PMID:10624810|PMID:10732812|PMID:10735277|PMID:10809943|PMID:10889018|PMID:11220750|PMID:11284995|PMID:11304046|PMID:11369193|PMID:11464950|PMID:11467054|PMID:11676987|PMID:11854285|PMID:11997070|PMID:12039658|PMID:12165567|PMID:12215228|PMID:12358759|PMID:12402272|PMID:12442272|PMID:12482932|PMID:1248932|PMID:1259395|PMID:12729761|PMID:12732844|PMID:12783432|PMID:12792143|PMID:12963370|PMID:13129804|PMID:13804989|PMID:14506936|PMID:14517684|PMID:14623191|PMID:1463506|PMID:14658402|PMID:14755739|PMID:14875225|PMID:14970233|PMID:15050437|PMID:15056757|PMID:15069187|PMID:15208263|PMID:15258228|PMID:15465081|PMID:15579468|PMID:15634772|PMID:15952898|PMID:15987780|PMID:16020530|PMID:16035108|PMID:16038516|PMID:16291929|PMID:16423367|PMID:16476815|PMID:16674979|PMID:16793335|PMID:16945901|PMID:16963403|PMID:17146286|PMID:17255946|PMID:17257622|PMID:17319283|PMID:17333220|PMID:17394531|PMID:17420412|PMID:17483589|PMID:17486090|PMID:17513298|PMID:17543992|PMID:17888947|PMID:18055113|PMID:18273717|PMID:18301754|PMID:18319614|PMID:18428003|PMID:18504130|PMID:18608106|PMID:18666828|PMID:18669821|PMID:18703498|PMID:18951903|PMID:19063897|PMID:19074999|PMID:19165329|PMID:19176896|PMID:19259395|PMID:19332692|PMID:19344917|PMID:19363716|PMID:19483195|PMID:19488901|PMID:19618436|PMID:19635794|PMID:19703565|PMID:19800308|PMID:19815002|PMID:19847927|PMID:19922144|PMID:19922148|PMID:19965850|PMID:20075587|PMID:20079423|PMID:20184515|PMID:20184521|PMID:20184893|PMID:20189984|PMID:20309572|PMID:20399791|PMID:20404329|PMID:20404910|PMID:20460594|PMID:20472325|PMID:20540686|PMID:20562451|PMID:20577002|PMID:21073275|PMID:21120636|PMID:21226712|PMID:21257910|PMID:21329474|PMID:21506602|PMID:21549128|PMID:21549454|PMID:21574856|PMID:21603025|PMID:21651514|PMID:21700707|PMID:21700728|PMID:21755517|PMID:21901496|PMID:22094223|PMID:22244934|PMID:22264771|PMID:22292843|PMID:22332887|PMID:22475618|PMID:22499346|PMID:22595972|PMID:22632445|PMID:22647583|PMID:22941224|PMID:22985433|PMID:23062701|PMID:23100398|PMID:23264618|PMID:23280792|PMID:23286750|PMID:23291526|PMID:23447461|PMID:23541756|PMID:23726301|PMID:23744890|PMID:23773010|PMID:23792044|PMID:23837654|PMID:23869403|PMID:23872456|PMID:23873540|PMID:23949607|PMID:23962495|PMID:24094577|PMID:24134191|PMID:24312616|PMID:24325798|PMID:24369116|PMID:24439480|PMID:24472010|PMID:24908169|PMID:24971881|PMID:25025039|PMID:25052939|PMID:25109764|PMID:2517465|PMID:25174650|PMID:25178511|PMID:25299611|PMID:25382069|PMID:25509359|PMID:25572957|PMID:25578810|PMID:25585530|PMID:25600987|PMID:25623562|PMID:25681989|PMID:25741868|PMID:25792239|PMID:25806427|PMID:26069299|PMID:26362407|PMID:26467025|PMID:26551617|PMID:26601740|PMID:26622980|PMID:26733601|PMID:26742954|PMID:26791423|PMID:26843957|PMID:27154192|PMID:27257061|PMID:27261500|PMID:27348463|PMID:27470954|PMID:27604643|PMID:27884173|PMID:27974499|PMID:27978769|PMID:28089114|PMID:28105640|PMID:28222900|PMID:28291249|PMID:28430856|PMID:28492532|PMID:28620717|PMID:28709720|PMID:29149916|PMID:29411640|PMID:29564924|PMID:29650794|PMID:29861044|PMID:29895397|PMID:30626575|PMID:30637102|PMID:31134679|PMID:31170830|PMID:31781168|PMID:31788332|PMID:32166880|PMID:32579787|PMID:32619288|PMID:32672072|PMID:32951934|PMID:32987860|PMID:33479441|PMID:34721532|PMID:7496169|PMID:7501156|PMID:7635196|PMID:7643359|PMID:7647793|PMID:7655469|PMID:7655471|PMID:7673954|PMID:7755363|PMID:7836951|PMID:7881433|PMID:7887412|PMID:7891072|PMID:7911198|PMID:7951249|PMID:7951252|PMID:7985500|PMID:7997024|PMID:8004110|PMID:8058797|PMID:8069312|PMID:8105280|PMID:8179602|PMID:8298637|PMID:8351519|PMID:8446170|PMID:8528216|PMID:8560268|PMID:8572658|PMID:8650157|PMID:8682505|PMID:8813280|PMID:8830861|PMID:8875253|PMID:8891072|PMID:8900247|PMID:8907321|PMID:8909456|PMID:8938700|PMID:8971099|PMID:8990014|PMID:9008494|PMID:9029070|PMID:9052802|PMID:9065559|PMID:9101297|PMID:9228005|PMID:9365366|PMID:9409355 12246481 SOD1 superoxide dismutase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730855 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:9455977|PMID:9556377|PMID:9743498|PMID:9817920|PMID:9857958 12246481 SOD1 superoxide dismutase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730855 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:10321246|PMID:10400992|PMID:10430435|PMID:10439968|PMID:10540008|PMID:10593307|PMID:10624810|PMID:10732812|PMID:10735277|PMID:10809943|PMID:10889018|PMID:11220750|PMID:11284995|PMID:11304046|PMID:11346368|PMID:11369193|PMID:11408340|PMID:11464950|PMID:11467054|PMID:11602336|PMID:11676987|PMID:11854285|PMID:11951178|PMID:11997070|PMID:12039658|PMID:12165567|PMID:12210393|PMID:12215228|PMID:12358759|PMID:12402272|PMID:12424972|PMID:12442272|PMID:12482932|PMID:1248932|PMID:1259395|PMID:12729761|PMID:12732844|PMID:12783432|PMID:12792143|PMID:12963370|PMID:13129803|PMID:13129804|PMID:13804989|PMID:14506936|PMID:14517684|PMID:14623191|PMID:1463506|PMID:14658402|PMID:14755739|PMID:14759637|PMID:14875225|PMID:14970233|PMID:15050437|PMID:15056757|PMID:15069187|PMID:15208263|PMID:15235802|PMID:15258228|PMID:15465081|PMID:15579468|PMID:15634772|PMID:15952898|PMID:15987780|PMID:16020530|PMID:16035108|PMID:16038516|PMID:16291929|PMID:16423367|PMID:16435343|PMID:16476815|PMID:16674979|PMID:16793335|PMID:16945901|PMID:16952453|PMID:16963403|PMID:17146286|PMID:17237124|PMID:17255946|PMID:17257622|PMID:17319283|PMID:17333220|PMID:17394531|PMID:17420412|PMID:17453632|PMID:17483589|PMID:17486090|PMID:17513298|PMID:17543992|PMID:17576681|PMID:17888947|PMID:18055113|PMID:18273717|PMID:18301754|PMID:18319614|PMID:18428003|PMID:18504130|PMID:18608106|PMID:18666828|PMID:18669821|PMID:18703498|PMID:18852346|PMID:18951903|PMID:19000626|PMID:19063897|PMID:19074999|PMID:19091752|PMID:19165329|PMID:19176896|PMID:19196430|PMID:19259395|PMID:19332692|PMID:19344917|PMID:19363716|PMID:19483195|PMID:19488901|PMID:19618436|PMID:19635794|PMID:19703565|PMID:19800308|PMID:19815002|PMID:19847927|PMID:19922144|PMID:19922148|PMID:19965850|PMID:20075587|PMID:20079423|PMID:20184515|PMID:20184521|PMID:20184893|PMID:20189984|PMID:20309572|PMID:20385392|PMID:20399791|PMID:20404329|PMID:20404910|PMID:20460594|PMID:20472325|PMID:20515040|PMID:20540686|PMID:20562451|PMID:20577002|PMID:21073275|PMID:21120636|PMID:21226712|PMID:21257910|PMID:21329474|PMID:21506602|PMID:21549128|PMID:21549454|PMID:21574856|PMID:21603025|PMID:21651514|PMID:21700707|PMID:21700728|PMID:21755517|PMID:21901496|PMID:22049684|PMID:22094223|PMID:22244934|PMID:22264771|PMID:22292843|PMID:22332887|PMID:22475618|PMID:22499346|PMID:22595972|PMID:22632444|PMID:22632445|PMID:22647583|PMID:22670878|PMID:22722621|PMID:22941224|PMID:22985433|PMID:23062701|PMID:23100398|PMID:23118898|PMID:23182243|PMID:23264618|PMID:23280792|PMID:23286750|PMID:23291526|PMID:23447461|PMID:23512985|PMID:23541756|PMID:23726301|PMID:23744890|PMID:23773010|PMID:23792044|PMID:23837654|PMID:23853506|PMID:23869403|PMID:23872456|PMID:23873540|PMID:23898858|PMID:23949607|PMID:23962495|PMID:24094577|PMID:24134191|PMID:24312616|PMID:24325798|PMID:24369116|PMID:24439480|PMID:24472010|PMID:24769475|PMID:24908169|PMID:24971881|PMID:25025039|PMID:25052939|PMID:25109764|PMID:2517465|PMID:25174650|PMID:25178511|PMID:25299611|PMID:25382069|PMID:25509359|PMID:25572957|PMID:25578810|PMID:25585530|PMID:25600987|PMID:25623562|PMID:25681989|PMID:25741868|PMID:25792239|PMID:25806427|PMID:26069299|PMID:26084641|PMID:26362407|PMID:26467025|PMID:26551617|PMID:26601740|PMID:26622980|PMID:26733601|PMID:26742954|PMID:26791423|PMID:26843957|PMID:27090969|PMID:27154192|PMID:27257061|PMID:27261500|PMID:27348463|PMID:27470954|PMID:27604643|PMID:27884173|PMID:27974499|PMID:27978769|PMID:28035186|PMID:28089114|PMID:28105640|PMID:28222900|PMID:28291249|PMID:28430856|PMID:28492532|PMID:28620717|PMID:28709720|PMID:29149916|PMID:29411640|PMID:29540513|PMID:29564924|PMID:29650794|PMID:29861044|PMID:29895397|PMID:29982983|PMID:30029678|PMID:30626575|PMID:30637102|PMID:30887850|PMID:31086828|PMID:31134679|PMID:31170830|PMID:31781168|PMID:31788332|PMID:32166880|PMID:32174179|PMID:32397312|PMID:32579787|PMID:32672072|PMID:32729724|PMID:32729725|PMID:32948071|PMID:32951934|PMID:32987860|PMID:33381076|PMID:33479441|PMID:33618928|PMID:33785574|PMID:34721532|PMID:7496169 12246481 SOD1 superoxide dismutase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730855 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:7501156|PMID:7635196|PMID:7643359|PMID:7647793|PMID:7655469|PMID:7655471|PMID:7673954|PMID:7755363|PMID:7836951|PMID:7870076|PMID:7881433|PMID:7887412|PMID:7891072|PMID:7911198|PMID:7951249|PMID:7951252|PMID:7985500|PMID:7997024|PMID:8004110|PMID:8058797|PMID:8069312|PMID:8105280|PMID:8179602|PMID:8298637|PMID:8351519|PMID:8446170|PMID:8528216|PMID:8560268|PMID:8572658|PMID:8650157|PMID:8682505|PMID:8813280|PMID:8830861|PMID:8875253|PMID:8900247|PMID:8907321|PMID:8909456|PMID:8938700|PMID:8971099|PMID:8990014|PMID:9008494|PMID:9029070|PMID:9052802|PMID:9065559|PMID:9101297|PMID:9131652|PMID:9228005|PMID:9365366|PMID:9409355|PMID:9455977|PMID:9462467|PMID:9506558|PMID:9536098|PMID:9556377|PMID:9706719|PMID:9743498|PMID:9817920|PMID:9857958 12246481 SOD1 superoxide dismutase 1 gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:730855 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 PMID:11464950|PMID:11467054|PMID:12729761|PMID:12732844|PMID:12963370|PMID:14506936|PMID:14658402|PMID:15634772|PMID:17319283|PMID:19483195|PMID:20079423|PMID:20184515|PMID:21257910|PMID:21506602|PMID:21700707|PMID:21901496|PMID:22292843|PMID:22332887|PMID:22647583|PMID:23280792|PMID:23291526|PMID:23447461|PMID:23837654|PMID:24369116|PMID:24472010|PMID:25578810|PMID:25741868|PMID:26362407|PMID:26467025|PMID:26742954|PMID:26791423|PMID:28105640|PMID:28291249|PMID:28492532|PMID:7891072|PMID:8351519|PMID:8446170|PMID:9008494|PMID:9029070 12246481 SOD1 superoxide dismutase 1 gene DOID:0060224 atrial fibrillation ISO RGD:730855 D RGD:9068941 20200609 RGD associated with Mitral Valve Insufficiency;mRNA, protein:increased expression:posterior wall of left atrium (human) PMID:21954878|REF_RGD_ID:8655869 12246481 SOD1 superoxide dismutase 1 gene DOID:0060319 cardiac arrest ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:15843790|REF_RGD_ID:1581221 12246481 SOD1 superoxide dismutase 1 gene DOID:0060326 myelomeningocele ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22972774 12246481 SOD1 superoxide dismutase 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:730855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12246481 SOD1 superoxide dismutase 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:730855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12246481 SOD1 superoxide dismutase 1 gene DOID:0080322 polycystic kidney disease ISO RGD:3731 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney (rat) PMID:23006058|REF_RGD_ID:8657020 12246481 SOD1 superoxide dismutase 1 gene DOID:0080547 non-alcoholic steatohepatitis susceptibility ISO RGD:3731 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:20606728|REF_RGD_ID:21076282 12246481 SOD1 superoxide dismutase 1 gene DOID:10140 dry eye syndrome ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:24168989|REF_RGD_ID:8655609 12246481 SOD1 superoxide dismutase 1 gene DOID:10140 dry eye syndrome ISO RGD:11329 D RGD:9068941 20220825 MouseDO 12246481 SOD1 superoxide dismutase 1 gene DOID:10584 retinitis pigmentosa severity ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:21736939|REF_RGD_ID:8655617 12246481 SOD1 superoxide dismutase 1 gene DOID:10584 retinitis pigmentosa severity ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:19293779|REF_RGD_ID:8158049 12246481 SOD1 superoxide dismutase 1 gene DOID:10652 Alzheimer's disease ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:22072713|REF_RGD_ID:8655610 12246481 SOD1 superoxide dismutase 1 gene DOID:10652 Alzheimer's disease ISO RGD:3731 D RGD:9068941 20200609 RGD mRNA:altered expression:hippocampus, hypothalamus (rat) PMID:20027333|REF_RGD_ID:8657017 12246481 SOD1 superoxide dismutase 1 gene DOID:10652 Alzheimer's disease ISO RGD:730855 D RGD:9068941 20200609 RGD protein:decreased expression:frontal lobe (human) PMID:22072713|REF_RGD_ID:8655610 12246481 SOD1 superoxide dismutase 1 gene DOID:10763 hypertension ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:16864745|REF_RGD_ID:1581232 12246481 SOD1 superoxide dismutase 1 gene DOID:10763 hypertension ISO RGD:11329 D RGD:9068941 20200609 RGD associated with Hydronephrosis PMID:19403858|REF_RGD_ID:2312366 12246481 SOD1 superoxide dismutase 1 gene DOID:10763 hypertension ISO RGD:3731 D RGD:9068941 20200609 RGD mRNA:decreased expression:rostral ventrolateral medulla (rat) PMID:16716903|REF_RGD_ID:1580833 12246481 SOD1 superoxide dismutase 1 gene DOID:10763 hypertension ISO RGD:730855 D RGD:9068941 20200609 RGD protein,mRNA:decreased_expression:mononuclear_cells:after treatment, activity increased but mRNA expression decreased further PMID:17198913|REF_RGD_ID:1600704 12246481 SOD1 superoxide dismutase 1 gene DOID:10763 hypertension ISO RGD:730855 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:25101153|PMID:32165127|PMID:9024144 12246481 SOD1 superoxide dismutase 1 gene DOID:10763 hypertension treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a rat model PMID:16716903|REF_RGD_ID:1580833 12246481 SOD1 superoxide dismutase 1 gene DOID:11054 urinary bladder cancer ISO RGD:730855 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 12246481 SOD1 superoxide dismutase 1 gene DOID:11088 asphyxia neonatorum ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963755 12246481 SOD1 superoxide dismutase 1 gene DOID:11446 sciatic neuropathy severity ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a rat model;DNA:missense mutation:cds:p.G93A (human) PMID:21489258|REF_RGD_ID:8655638 12246481 SOD1 superoxide dismutase 1 gene DOID:11446 sciatic neuropathy treatment ISO RGD:3731 D RGD:9068941 20200609 RGD PMID:15707675|REF_RGD_ID:8655979 12246481 SOD1 superoxide dismutase 1 gene DOID:11713 diabetic angiopathy ISO RGD:730855 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:16338763|REF_RGD_ID:1600708 12246481 SOD1 superoxide dismutase 1 gene DOID:11758 iron deficiency anemia ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17057260 12246481 SOD1 superoxide dismutase 1 gene DOID:11823 hepatorenal syndrome ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:15531919|REF_RGD_ID:1581228 12246481 SOD1 superoxide dismutase 1 gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11907800 12246481 SOD1 superoxide dismutase 1 gene DOID:12716 newborn respiratory distress syndrome susceptibility ISO RGD:730855 D RGD:9068941 20200609 RGD DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human) PMID:22574884|REF_RGD_ID:8655661 12246481 SOD1 superoxide dismutase 1 gene DOID:13025 retinopathy of prematurity susceptibility ISO RGD:730855 D RGD:9068941 20200609 RGD DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human) PMID:22958044|REF_RGD_ID:8655635 12246481 SOD1 superoxide dismutase 1 gene DOID:13241 Behcet's disease ISO RGD:730855 D RGD:9068941 20200609 RGD protein:increased activity:serum (human) PMID:12458889|REF_RGD_ID:1580846 12246481 SOD1 superoxide dismutase 1 gene DOID:13544 low tension glaucoma ISO RGD:11329 D RGD:9068941 20220825 MouseDO OMIM:606657 12246481 SOD1 superoxide dismutase 1 gene DOID:13544 low tension glaucoma ISO RGD:730855 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:21421868|REF_RGD_ID:8655579 12246481 SOD1 superoxide dismutase 1 gene DOID:14250 Down syndrome ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181815 12246481 SOD1 superoxide dismutase 1 gene DOID:14250 Down syndrome ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:15464862|REF_RGD_ID:8655616 12246481 SOD1 superoxide dismutase 1 gene DOID:14323 Marfan syndrome ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 12246481 SOD1 superoxide dismutase 1 gene DOID:14330 Parkinson's disease ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15824117|PMID:16353238|PMID:21318773 12246481 SOD1 superoxide dismutase 1 gene DOID:14330 Parkinson's disease treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a rat model PMID:16353238|REF_RGD_ID:8655933 12246481 SOD1 superoxide dismutase 1 gene DOID:1459 hypothyroidism ISO RGD:3731 D RGD:9068941 20200609 RGD mRNA:decreased expression:renal cortex (rat) PMID:21607622|REF_RGD_ID:8655989 12246481 SOD1 superoxide dismutase 1 gene DOID:1459 hypothyroidism treatment ISO RGD:3731 D RGD:9068941 20200609 RGD PMID:22076484|REF_RGD_ID:8655983 12246481 SOD1 superoxide dismutase 1 gene DOID:1596 depressive disorder ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19605942 12246481 SOD1 superoxide dismutase 1 gene DOID:1679 cystitis ISO RGD:3731 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:26109091|REF_RGD_ID:11035303 12246481 SOD1 superoxide dismutase 1 gene DOID:1793 pancreatic cancer ISO RGD:730855 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:12499913|REF_RGD_ID:2317410 12246481 SOD1 superoxide dismutase 1 gene DOID:1936 atherosclerosis ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20720404 12246481 SOD1 superoxide dismutase 1 gene DOID:1936 atherosclerosis severity ISO RGD:11329 D RGD:9068941 20200609 RGD mRNA:decreased expression:thoracic aorta (mouse) PMID:20347443|REF_RGD_ID:8655856 12246481 SOD1 superoxide dismutase 1 gene DOID:224 transient cerebral ischemia ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12629175|PMID:15829915|PMID:16538228|PMID:16868554 12246481 SOD1 superoxide dismutase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a rat model PMID:17110031|REF_RGD_ID:8655986 12246481 SOD1 superoxide dismutase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human protein in a rat model PMID:21531066|REF_RGD_ID:8655885 12246481 SOD1 superoxide dismutase 1 gene DOID:231 motor neuron disease ISO RGD:730855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:10400992|PMID:10593307|PMID:10732812|PMID:12165567|PMID:12358759|PMID:1259395|PMID:15056757|PMID:15208263|PMID:15258228|PMID:16423367|PMID:16674979|PMID:17394531|PMID:17543992|PMID:18273717|PMID:18301754|PMID:18951903|PMID:19259395|PMID:19483195|PMID:20184521|PMID:20399791|PMID:20540686|PMID:21120636|PMID:21257910|PMID:21549128|PMID:22292843|PMID:23264618|PMID:23280792|PMID:23726301|PMID:23773010|PMID:23873540|PMID:24325798|PMID:24439480|PMID:2517465|PMID:25741868|PMID:26362407|PMID:26467025|PMID:28089114|PMID:28105640|PMID:28291249|PMID:28430856|PMID:28492532|PMID:30637102|PMID:31788332|PMID:7635196|PMID:7673954|PMID:7997024|PMID:8004110|PMID:8058797|PMID:8069312|PMID:8446170|PMID:8528216|PMID:8572658|PMID:8875253|PMID:9029070 12246481 SOD1 superoxide dismutase 1 gene DOID:2316 brain ischemia ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11756504 12246481 SOD1 superoxide dismutase 1 gene DOID:2527 nephrosis ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2273594 12246481 SOD1 superoxide dismutase 1 gene DOID:2773 contact dermatitis ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12246481 SOD1 superoxide dismutase 1 gene DOID:2841 asthma ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22867017 12246481 SOD1 superoxide dismutase 1 gene DOID:2972 renal artery obstruction ISO RGD:3731 D RGD:9068941 20200609 RGD protein:decreased expression:kidney (rat) PMID:17959751|REF_RGD_ID:8655955 12246481 SOD1 superoxide dismutase 1 gene DOID:3021 acute kidney failure ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12246481 SOD1 superoxide dismutase 1 gene DOID:3070 high grade glioma ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11861405 12246481 SOD1 superoxide dismutase 1 gene DOID:319 spinal cord disease IAGP D RGD:12801476 20230517 OMIA Degenerative myelopathy PMID:8143248|PMID:12592926|PMID:18196743|PMID:19188595|PMID:20732599|PMID:19276068|PMID:22105877|PMID:23328634|PMID:21628865|PMID:22542607|PMID:23839236|PMID:23990410|PMID:24069350|PMID:23707216|PMID:24450472|PMID:24524809|PMID:24662024|PMID:26401327|PMID:27185954|PMID:27387721|PMID:26432396|PMID:27838005|PMID:27941298|PMID:27917507|PMID:31336405|PMID:31914665|PMID:32219101|PMID:32742795|PMID:33196688|PMID:33494906|PMID:34166783|PMID:34316194|PMID:30273700|PMID:34544496|PMID:34830115|PMID:21848967|PMID:35364344|PMID:35804546|PMID:36615350|PMID:36848350|PMID:37106965|PMID:37156398|PMID:37179117 12246481 SOD1 superoxide dismutase 1 gene DOID:326 ischemia ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10698074 12246481 SOD1 superoxide dismutase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:730855 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:10439968|PMID:10809943|PMID:10889018|PMID:11220750|PMID:11284995|PMID:11369193|PMID:11467054|PMID:11997070|PMID:12442272|PMID:12482932|PMID:14506936|PMID:14517684|PMID:14623191|PMID:15069187|PMID:15258228|PMID:15465081|PMID:15952898|PMID:16020530|PMID:16945901|PMID:17146286|PMID:17255946|PMID:17420412|PMID:17483589|PMID:18319614|PMID:18428003|PMID:18608106|PMID:18951903|PMID:19344917|PMID:19483195|PMID:19635794|PMID:19703565|PMID:19922148|PMID:19965850|PMID:20189984|PMID:20309572|PMID:20399791|PMID:20460594|PMID:20540686|PMID:22264771|PMID:22292843|PMID:22475618|PMID:22632444|PMID:23062701|PMID:23100398|PMID:23280792|PMID:23962495|PMID:25025039|PMID:25052939|PMID:25299611|PMID:25509359|PMID:25600987|PMID:25741868|PMID:25792239|PMID:25806427|PMID:26362407|PMID:26467025|PMID:26742954|PMID:27348463|PMID:28105640|PMID:28430856|PMID:28492532|PMID:29411640|PMID:29861044|PMID:30637102|PMID:31788332|PMID:7647793|PMID:7655469|PMID:7836951|PMID:8298637|PMID:8813280|PMID:8875253|PMID:8909456|PMID:9365366|PMID:9817920 12246481 SOD1 superoxide dismutase 1 gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:730855 D RGD:9068941 20200609 RGD PMID:26826269|REF_RGD_ID:13524551 12246481 SOD1 superoxide dismutase 1 gene DOID:3393 coronary artery disease ISO RGD:730855 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:16338763|REF_RGD_ID:1600708 12246481 SOD1 superoxide dismutase 1 gene DOID:3491 Turner syndrome ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 12246481 SOD1 superoxide dismutase 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:3731 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex (rat) PMID:22133807|REF_RGD_ID:8657023 12246481 SOD1 superoxide dismutase 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3731 D RGD:9068941 20200609 RGD PMID:22001340|REF_RGD_ID:8657021 12246481 SOD1 superoxide dismutase 1 gene DOID:3687 MELAS syndrome ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11907800 12246481 SOD1 superoxide dismutase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26699812 12246481 SOD1 superoxide dismutase 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:3731 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:26534761|REF_RGD_ID:11035301 12246481 SOD1 superoxide dismutase 1 gene DOID:409 liver disease ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17877538 12246481 SOD1 superoxide dismutase 1 gene DOID:4195 hyperglycemia treatment ISO RGD:730855 D RGD:9068941 20200609 RGD associated with Ischemic Attack, Transient; human gene in a rat model PMID:17272778|REF_RGD_ID:1642027 12246481 SOD1 superoxide dismutase 1 gene DOID:4448 macular degeneration ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:16844785|REF_RGD_ID:1581207 12246481 SOD1 superoxide dismutase 1 gene DOID:4448 macular degeneration susceptibility ISO RGD:730855 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23848218|REF_RGD_ID:8655651 12246481 SOD1 superoxide dismutase 1 gene DOID:5113 nutritional deficiency disease ISO RGD:3731 D RGD:9068941 20200609 RGD Copper Deficiency; protein:decreased activity:erythrocyte (rat) PMID:15337829|REF_RGD_ID:1358244 12246481 SOD1 superoxide dismutase 1 gene DOID:5113 nutritional deficiency disease ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12514262 12246481 SOD1 superoxide dismutase 1 gene DOID:520 aortic disease ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 12246481 SOD1 superoxide dismutase 1 gene DOID:5434 scrapie ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11701772 12246481 SOD1 superoxide dismutase 1 gene DOID:576 proteinuria ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2273594 12246481 SOD1 superoxide dismutase 1 gene DOID:5844 myocardial infarction ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:11864929|REF_RGD_ID:1581222 12246481 SOD1 superoxide dismutase 1 gene DOID:5844 myocardial infarction ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21600015 12246481 SOD1 superoxide dismutase 1 gene DOID:5844 myocardial infarction treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a rat model PMID:22006090|REF_RGD_ID:8655953 12246481 SOD1 superoxide dismutase 1 gene DOID:6000 congestive heart failure ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 12246481 SOD1 superoxide dismutase 1 gene DOID:630 genetic disease ISO RGD:730855 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14506936|PMID:16674979|PMID:18504130|PMID:19363716|PMID:21603025|PMID:23949607|PMID:26467025|PMID:27884173|PMID:28492532|PMID:28620717|PMID:8938700|PMID:9365366 12246481 SOD1 superoxide dismutase 1 gene DOID:649 prion disease disease_progression ISO RGD:730855 D RGD:9068941 20200609 RGD PMID:18559949|REF_RGD_ID:13782161 12246481 SOD1 superoxide dismutase 1 gene DOID:678 progressive supranuclear palsy ISO RGD:730855 D RGD:9068941 20200609 RGD protein:increased activity:brain (human) PMID:11879807|REF_RGD_ID:8655859 12246481 SOD1 superoxide dismutase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:730855 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 12246481 SOD1 superoxide dismutase 1 gene DOID:767 muscular atrophy ISO RGD:730855 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:24163136|PMID:29374221 12246481 SOD1 superoxide dismutase 1 gene DOID:7998 hyperthyroidism ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19914224 12246481 SOD1 superoxide dismutase 1 gene DOID:7998 hyperthyroidism treatment ISO RGD:3731 D RGD:9068941 20200609 RGD PMID:22476324|REF_RGD_ID:8655984 12246481 SOD1 superoxide dismutase 1 gene DOID:83 cataract ISO RGD:11329 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19324844|REF_RGD_ID:2312362 12246481 SOD1 superoxide dismutase 1 gene DOID:83 cataract ISO RGD:730855 D RGD:9068941 20200609 RGD PMID:16254550|REF_RGD_ID:1581192 12246481 SOD1 superoxide dismutase 1 gene DOID:83 cataract ISO RGD:730855 D RGD:9068941 20200609 RGD mRNA:decreased expression:eye lens (human) PMID:23970468|REF_RGD_ID:8655570 12246481 SOD1 superoxide dismutase 1 gene DOID:83 cataract susceptibility ISO RGD:730855 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS3-251A>G (rs2070424) (human) PMID:21921984|REF_RGD_ID:8655573 12246481 SOD1 superoxide dismutase 1 gene DOID:8466 retinal degeneration ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16741961|PMID:19074809 12246481 SOD1 superoxide dismutase 1 gene DOID:863 nervous system disease ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11158245 12246481 SOD1 superoxide dismutase 1 gene DOID:8947 diabetic retinopathy ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19074809 12246481 SOD1 superoxide dismutase 1 gene DOID:8947 diabetic retinopathy ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:19074809|REF_RGD_ID:8655572 12246481 SOD1 superoxide dismutase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17457363 12246481 SOD1 superoxide dismutase 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a rat model PMID:16689664|REF_RGD_ID:8655990 12246481 SOD1 superoxide dismutase 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human protein in a rat model PMID:18722523|REF_RGD_ID:8655939 12246481 SOD1 superoxide dismutase 1 gene DOID:9000307 Presbycusis ISO RGD:11329 D RGD:9068941 20200609 RGD mRNA:increased expression:cochlea (mouse) PMID:11678164|REF_RGD_ID:8655636 12246481 SOD1 superoxide dismutase 1 gene DOID:9000307 Presbycusis severity ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:10464373|REF_RGD_ID:8655665 12246481 SOD1 superoxide dismutase 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:730855 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 12246481 SOD1 superoxide dismutase 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:3731 D RGD:9068941 20200609 RGD protein:decreased expression:mammary gland (rat) PMID:17157473|REF_RGD_ID:8657018 12246481 SOD1 superoxide dismutase 1 gene DOID:9000578 SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE ISO RGD:730855 D RGD:7240710 20191016 OMIM 12246481 SOD1 superoxide dismutase 1 gene DOID:9000578 SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE ISO RGD:730855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic tetraplegia and axial hypotonia, progressive PMID:15050437|PMID:15208263|PMID:16945901|PMID:20075587|PMID:20472325|PMID:23280792|PMID:25741868|PMID:28492532|PMID:29982983|PMID:31314961|PMID:31332433 12246481 SOD1 superoxide dismutase 1 gene DOID:9000815 Aortic Calcification ISO RGD:3731 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta PMID:25430697|REF_RGD_ID:11038653 12246481 SOD1 superoxide dismutase 1 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22247605 12246481 SOD1 superoxide dismutase 1 gene DOID:9000918 Disease Progression ISO RGD:730855 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:29434186 12246481 SOD1 superoxide dismutase 1 gene DOID:9000998 Brain Injuries ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:16248885|REF_RGD_ID:1581214 12246481 SOD1 superoxide dismutase 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:16844785|REF_RGD_ID:1581207 12246481 SOD1 superoxide dismutase 1 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a rat model PMID:11266387|REF_RGD_ID:9587792 12246481 SOD1 superoxide dismutase 1 gene DOID:9001472 Nasal Polyps ISO RGD:730855 D RGD:9068941 20200609 RGD associated with Rhinosinusitis;protein:decreased expression:nasal mucosa: PMID:23921602|REF_RGD_ID:8547534 12246481 SOD1 superoxide dismutase 1 gene DOID:9001472 Nasal Polyps ISO RGD:730855 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:middle nasal turbinate, lamella (human) PMID:16540901|REF_RGD_ID:1581230 12246481 SOD1 superoxide dismutase 1 gene DOID:9001592 Pathological Protein Aggregation ISO RGD:730855 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:29649360 12246481 SOD1 superoxide dismutase 1 gene DOID:9001981 Weight Loss ISO RGD:730855 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:24163136|PMID:29434186 12246481 SOD1 superoxide dismutase 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a rat model PMID:11779401|PMID:16555330|REF_RGD_ID:1581095|REF_RGD_ID:8655889 12246481 SOD1 superoxide dismutase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:11329 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:19470681|REF_RGD_ID:2312361 12246481 SOD1 superoxide dismutase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730855 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphisms: :multiple PMID:17914031|REF_RGD_ID:2312365 12246481 SOD1 superoxide dismutase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:11522679|REF_RGD_ID:8655571 12246481 SOD1 superoxide dismutase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21893188 12246481 SOD1 superoxide dismutase 1 gene DOID:9002315 Kidney Calculi ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24360074 12246481 SOD1 superoxide dismutase 1 gene DOID:9002395 Hypothermia ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11731100 12246481 SOD1 superoxide dismutase 1 gene DOID:9002669 Hypoxia treatment ISO RGD:3731 D RGD:9068941 20200609 RGD PMID:21453737|REF_RGD_ID:8657026 12246481 SOD1 superoxide dismutase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16179351 12246481 SOD1 superoxide dismutase 1 gene DOID:9002869 Schistosomiasis Mansoni ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16564582 12246481 SOD1 superoxide dismutase 1 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:16741961|REF_RGD_ID:8655606 12246481 SOD1 superoxide dismutase 1 gene DOID:9002910 Hearing Loss, Noise-Induced severity ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:10436316|REF_RGD_ID:8655966 12246481 SOD1 superoxide dismutase 1 gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:730855 D RGD:9068941 20200609 RGD DNA:snps, haplotypes:introns:multiple (human) PMID:19895330|REF_RGD_ID:8655611 12246481 SOD1 superoxide dismutase 1 gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:730855 D RGD:9068941 20200609 RGD DNA:snps:introns:IVS2+193T>G (rs10432782), IVS3-251A>G (rs2070424) (human) PMID:22931816|REF_RGD_ID:8655851 12246481 SOD1 superoxide dismutase 1 gene DOID:9002955 Nerve Degeneration ISO RGD:730855 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:17581637|PMID:19243126|PMID:24885036|PMID:24918341 12246481 SOD1 superoxide dismutase 1 gene DOID:9003603 Hemolysis ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25247420 12246481 SOD1 superoxide dismutase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:15364863|REF_RGD_ID:1580834 12246481 SOD1 superoxide dismutase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15364863|PMID:16397181|PMID:23061969|PMID:23743330 12246481 SOD1 superoxide dismutase 1 gene DOID:9004484 Sepsis ISO RGD:3731 D RGD:9068941 20200609 RGD PMID:26266917|REF_RGD_ID:11035300 12246481 SOD1 superoxide dismutase 1 gene DOID:9004538 Hearing Loss ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:16055286|REF_RGD_ID:1581213 12246481 SOD1 superoxide dismutase 1 gene DOID:9004538 Hearing Loss ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11474137 12246481 SOD1 superoxide dismutase 1 gene DOID:9004989 Protein Deficiency ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16214328 12246481 SOD1 superoxide dismutase 1 gene DOID:9005246 Paralysis ISO RGD:730855 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:29434186 12246481 SOD1 superoxide dismutase 1 gene DOID:9005372 Inflammation ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22867017 12246481 SOD1 superoxide dismutase 1 gene DOID:9005452 Ureteral Calculi ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24360074 12246481 SOD1 superoxide dismutase 1 gene DOID:9005532 Muscle Weakness ISO RGD:730855 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:29434186 12246481 SOD1 superoxide dismutase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3731 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:20924670|REF_RGD_ID:8655956 12246481 SOD1 superoxide dismutase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23090186 12246481 SOD1 superoxide dismutase 1 gene DOID:9005749 Necrosis ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9548797 12246481 SOD1 superoxide dismutase 1 gene DOID:9006024 Hypotension ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9024144 12246481 SOD1 superoxide dismutase 1 gene DOID:9006205 Animal Disease Models ISO RGD:730855 D RGD:9068941 20211015 CTD CTD Direct Evidence: marker/mechanism PMID:12586733|PMID:12684256|PMID:19227972|PMID:20177826|PMID:21867702|PMID:23583883|PMID:24885036|PMID:28038988|PMID:28123103|PMID:29374221|PMID:29434186 12246481 SOD1 superoxide dismutase 1 gene DOID:9006230 Neurologic Gait Disorders ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21867702 12246481 SOD1 superoxide dismutase 1 gene DOID:9006617 Fatigue ISO RGD:730855 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:28123103 12246481 SOD1 superoxide dismutase 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12246481 SOD1 superoxide dismutase 1 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19951287 12246481 SOD1 superoxide dismutase 1 gene DOID:9007096 Stroke ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10698074 12246481 SOD1 superoxide dismutase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750|PMID:27349771 12246481 SOD1 superoxide dismutase 1 gene DOID:9007402 Gliosis ISO RGD:730855 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:24918341|PMID:29434186 12246481 SOD1 superoxide dismutase 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21742780|PMID:2982513 12246481 SOD1 superoxide dismutase 1 gene DOID:9007748 Retinal Neovascularization ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:19142872|REF_RGD_ID:8655607 12246481 SOD1 superoxide dismutase 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3731 D RGD:9068941 20200609 RGD PMID:23629152|REF_RGD_ID:8655965 12246481 SOD1 superoxide dismutase 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:730855 D RGD:9068941 20200609 RGD PMID:12668130|REF_RGD_ID:11035287 12246481 SOD1 superoxide dismutase 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human protein in a rat model PMID:19277497|REF_RGD_ID:8655884 12246481 SOD1 superoxide dismutase 1 gene DOID:9008510 Chronic Hepatitis ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 12246481 SOD1 superoxide dismutase 1 gene DOID:9111 cutaneous leishmaniasis ISO RGD:730855 D RGD:9068941 20200609 RGD protein:increased activity:erythrocyte: PMID:9892499|REF_RGD_ID:9479188 12246481 SOD1 superoxide dismutase 1 gene DOID:9282 ocular hypertension ISO RGD:3731 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:18626730|REF_RGD_ID:2303613 12246481 SOD1 superoxide dismutase 1 gene DOID:9351 diabetes mellitus ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23786522 12246481 SOD1 superoxide dismutase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:16005359|REF_RGD_ID:1581216 12246481 SOD1 superoxide dismutase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15531508 12246481 SOD1 superoxide dismutase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730855 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:IVS3+35A>C (rs2234694) (human) PMID:18423055|REF_RGD_ID:2312364 12246481 SOD1 superoxide dismutase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730855 D RGD:9068941 20200609 RGD protein:decreased expression:erythrocyte PMID:19317795|REF_RGD_ID:2312363 12246481 SOD1 superoxide dismutase 1 gene DOID:9452 fatty liver disease ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27349771 12246481 SOD1 superoxide dismutase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730855 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:IVS3+35A>C (rs2234694) (human) PMID:18423055|REF_RGD_ID:2312364 12246481 SOD1 superoxide dismutase 1 gene DOID:9923 developmental coordination disorder ISO RGD:730855 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:29434186 12246481 SOD1 superoxide dismutase 1 gene DOID:9970 obesity ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24042701 12246481 Sod1 superoxide dismutase 1, soluble gene DOID:649 prion disease disease_progression ISO RGD:11329 D RGD:9068941 20200609 RGD DNA:SNP:intron PMID:23349894|REF_RGD_ID:13782160 12246488 POU1F1 POU class 1 homeobox 1 gene DOID:0060870 isolated growth hormone deficiency ISO RGD:732450 D RGD:9068941 20230511 CTD CTD Direct Evidence: marker/mechanism PMID:9392392 12246488 POU1F1 POU class 1 homeobox 1 gene DOID:0111227 chromosome 3-linked frontotemporal dementia ISO RGD:732450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 PMID:28492532 12246488 POU1F1 POU class 1 homeobox 1 gene DOID:53 pituitary gland disease ISO RGD:732450 D RGD:9068941 20200609 RGD combined piuitary hormone deficiency;DNA:point mutation:exon:R172X PMID:1302000|REF_RGD_ID:1601432 12246488 POU1F1 POU class 1 homeobox 1 gene DOID:630 genetic disease ISO RGD:732450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:30266296 12246488 POU1F1 POU class 1 homeobox 1 gene DOID:9003666 Combined Pituitary Hormone Deficiency ISO RGD:732450 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined PMID:28492532 12246488 POU1F1 POU class 1 homeobox 1 gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:732450 D RGD:7240710 20180130 OMIM 12246488 POU1F1 POU class 1 homeobox 1 gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:732450 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 PMID:11297581|PMID:11924936|PMID:12629113|PMID:1271194|PMID:12904605|PMID:1302000|PMID:1472057|PMID:1509262|PMID:1509263|PMID:15928241|PMID:16968807|PMID:25741868|PMID:2634610|PMID:26467025|PMID:27541381|PMID:28492532|PMID:7670563|PMID:7721104|PMID:7833912|PMID:8768831|PMID:9392392|PMID:9588494|PMID:9626142 12246488 POU1F1 POU class 1 homeobox 1 gene DOID:9008340 Combined Pituitary Hormone Deficiency, 2 ISO RGD:732450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive PMID:25741868|PMID:26467025|PMID:28492532 12246488 POU1F1 POU class 1 homeobox 1 gene DOID:9255 frontotemporal dementia ISO RGD:732450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868|PMID:26467025|PMID:28492532 12246488 POU1F1 POU class 1 homeobox 1 gene DOID:9410 panhypopituitarism ISO RGD:732450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined PMID:28492532 12246503 ADRB2 adrenoceptor beta 2 gene DOID:0014667 disease of metabolism susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD dyslipidemias;DNA:polymorphism: :p.Q27E PMID:16082424|REF_RGD_ID:1601124 12246503 ADRB2 adrenoceptor beta 2 gene DOID:0050700 cardiomyopathy ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25193472 12246503 ADRB2 adrenoceptor beta 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733595 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12246503 ADRB2 adrenoceptor beta 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733595 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12246503 ADRB2 adrenoceptor beta 2 gene DOID:1067 open-angle glaucoma severity ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymprphism:cds:p.Q27E(human) PMID:16785856|REF_RGD_ID:8548468 12246503 ADRB2 adrenoceptor beta 2 gene DOID:1070 primary open angle glaucoma onset ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymprphism:cds:p.R16G(human) PMID:16785856|REF_RGD_ID:8548468 12246503 ADRB2 adrenoceptor beta 2 gene DOID:10763 hypertension ISO RGD:2060 D RGD:9068941 20200609 RGD PMID:2471888|REF_RGD_ID:7175287 12246503 ADRB2 adrenoceptor beta 2 gene DOID:10763 hypertension ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms: :46A>G, 79C>G (human) PMID:20739939|REF_RGD_ID:4144883 12246503 ADRB2 adrenoceptor beta 2 gene DOID:10763 hypertension ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms: :pG16R, p.Q27E, p.T164I (human) PMID:16041242|REF_RGD_ID:1578728 12246503 ADRB2 adrenoceptor beta 2 gene DOID:10763 hypertension ISO RGD:733595 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; DNA:SNP:cds:p.R16G (human) PMID:20484896|REF_RGD_ID:7175066 12246503 ADRB2 adrenoceptor beta 2 gene DOID:10763 hypertension no_association ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.R16G, p.Q27E PMID:17221209|REF_RGD_ID:1601119 12246503 ADRB2 adrenoceptor beta 2 gene DOID:10763 hypertension susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:16685203|REF_RGD_ID:1601123 12246503 ADRB2 adrenoceptor beta 2 gene DOID:11396 pulmonary edema ISO RGD:2060 D RGD:9068941 20200609 RGD PMID:18987456|REF_RGD_ID:5129128 12246503 ADRB2 adrenoceptor beta 2 gene DOID:11396 pulmonary edema ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:SNPs: :46A>G, 79C>G and 523C>A (human) PMID:20546540|REF_RGD_ID:4144884 12246503 ADRB2 adrenoceptor beta 2 gene DOID:11446 sciatic neuropathy treatment ISO RGD:10109 D RGD:9068941 20200609 RGD PMID:19912227|REF_RGD_ID:8548489 12246503 ADRB2 adrenoceptor beta 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:2060 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:ovary PMID:15795180|REF_RGD_ID:5508374 12246503 ADRB2 adrenoceptor beta 2 gene DOID:1168 familial hyperlipidemia ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16027735 12246503 ADRB2 adrenoceptor beta 2 gene DOID:12361 Graves' disease susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype:79C>G,47A>G,-367T>C(human) PMID:17143563|REF_RGD_ID:8548467 12246503 ADRB2 adrenoceptor beta 2 gene DOID:12849 autistic disorder ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199132 12246503 ADRB2 adrenoceptor beta 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:2060 D RGD:9068941 20200609 RGD PMID:18287209|REF_RGD_ID:5129132 12246503 ADRB2 adrenoceptor beta 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11986409 12246503 ADRB2 adrenoceptor beta 2 gene DOID:13949 interstitial cystitis susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R16G (human) PMID:12442007|REF_RGD_ID:7175285 12246503 ADRB2 adrenoceptor beta 2 gene DOID:14115 toxic shock syndrome disease_progression ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs1042717(human) PMID:19850944|REF_RGD_ID:8548487 12246503 ADRB2 adrenoceptor beta 2 gene DOID:14115 toxic shock syndrome treatment ISO RGD:733595 D RGD:9068941 20200609 RGD PMID:16076286|REF_RGD_ID:8548529 12246503 ADRB2 adrenoceptor beta 2 gene DOID:1459 hypothyroidism ISO RGD:2060 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:brown adipose tissue, heart: PMID:1651697|REF_RGD_ID:8548533 12246503 ADRB2 adrenoceptor beta 2 gene DOID:1485 cystic fibrosis ISO RGD:733595 D RGD:9068941 20200609 RGD PMID:20203292|REF_RGD_ID:5129107 12246503 ADRB2 adrenoceptor beta 2 gene DOID:1485 cystic fibrosis ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:17502834|REF_RGD_ID:4145099 12246503 ADRB2 adrenoceptor beta 2 gene DOID:1555 urticaria susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism: :46A>G(human) PMID:18159608|REF_RGD_ID:8548486 12246503 ADRB2 adrenoceptor beta 2 gene DOID:2723 dermatitis susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.Q27E(human) PMID:16955193|REF_RGD_ID:8548494 12246503 ADRB2 adrenoceptor beta 2 gene DOID:2841 asthma ISO RGD:733595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-2-adrenoreceptor agonist, reduced response to PMID:15284533|PMID:16596417|PMID:8383511 12246503 ADRB2 adrenoceptor beta 2 gene DOID:2841 asthma susceptibility ISO RGD:733595 D RGD:9068941 20230506 RGD DNA:SNP: :-1023A>G (human) PMID:19638684|REF_RGD_ID:4145081 12246503 ADRB2 adrenoceptor beta 2 gene DOID:2942 bronchiolitis ISO RGD:733595 D RGD:9068941 20200609 RGD PMID:17687719|REF_RGD_ID:4145098 12246503 ADRB2 adrenoceptor beta 2 gene DOID:3021 acute kidney failure ISO RGD:2060 D RGD:9068941 20200609 RGD associated with Endotoxemia; PMID:19020966|REF_RGD_ID:7175283 12246503 ADRB2 adrenoceptor beta 2 gene DOID:3021 acute kidney failure ISO RGD:2060 D RGD:9068941 20200609 RGD associated with endotoxemia; protein:increased expression:kidney PMID:14747378|REF_RGD_ID:7175276 12246503 ADRB2 adrenoceptor beta 2 gene DOID:3021 acute kidney failure ISO RGD:733595 D RGD:9068941 20200609 RGD associated with endotoxemia; protein:increased expression:kidney PMID:14747378|REF_RGD_ID:7175276 12246503 ADRB2 adrenoceptor beta 2 gene DOID:3021 acute kidney failure treatment ISO RGD:733595 D RGD:9068941 20200609 RGD associated with Bacteremia; PMID:19887504|REF_RGD_ID:7175281 12246503 ADRB2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:733595 D RGD:9068941 20200609 RGD PMID:11527135|PMID:20211002|REF_RGD_ID:4144899|REF_RGD_ID:5129114 12246503 ADRB2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:SNP: :p.R16G (human) PMID:18789663|REF_RGD_ID:4145093 12246503 ADRB2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1042717, rs1042718 (human) PMID:20525719|REF_RGD_ID:4140935 12246503 ADRB2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:733595 D RGD:9068941 20200609 RGD protein:decreased expression:blood, sputum, mononuclear cell PMID:19080468|REF_RGD_ID:4145086 12246503 ADRB2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.Q27E (human) PMID:19293197|REF_RGD_ID:4145082 12246503 ADRB2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:SNP: :p.R16G (human) PMID:19747908|REF_RGD_ID:4145080 12246503 ADRB2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:SNPs: :p.R16G, p.Q27E (human) PMID:18667995|REF_RGD_ID:4145095 12246503 ADRB2 adrenoceptor beta 2 gene DOID:437 myasthenia gravis ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.R16G,Q27E(human) PMID:10606977|REF_RGD_ID:8548470 12246503 ADRB2 adrenoceptor beta 2 gene DOID:4500 hypokalemia ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17292646|PMID:1848636|PMID:2826064 12246503 ADRB2 adrenoceptor beta 2 gene DOID:4947 cholangiocarcinoma ISO RGD:733595 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:16292515|REF_RGD_ID:2325640 12246503 ADRB2 adrenoceptor beta 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27400929 12246503 ADRB2 adrenoceptor beta 2 gene DOID:552 pneumonia ISO RGD:2060 D RGD:9068941 20200609 RGD PMID:19925785|REF_RGD_ID:4145041 12246503 ADRB2 adrenoceptor beta 2 gene DOID:557 kidney disease ISO RGD:2060 D RGD:9068941 20200609 RGD Associated with Escherichia coli infection; PMID:20349426|REF_RGD_ID:7175274 12246503 ADRB2 adrenoceptor beta 2 gene DOID:5844 myocardial infarction ISO RGD:2060 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:12400771|REF_RGD_ID:8548519 12246503 ADRB2 adrenoceptor beta 2 gene DOID:5844 myocardial infarction susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.G16R, p.Q27E, p.T164I PMID:15520258|REF_RGD_ID:1601126 12246503 ADRB2 adrenoceptor beta 2 gene DOID:6000 congestive heart failure ISO RGD:733595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-2-adrenoreceptor agonist, reduced response to PMID:15284533|PMID:16596417|PMID:8383511 12246503 ADRB2 adrenoceptor beta 2 gene DOID:630 genetic disease ISO RGD:733595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246503 ADRB2 adrenoceptor beta 2 gene DOID:646 viral encephalitis ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27400929 12246503 ADRB2 adrenoceptor beta 2 gene DOID:783 end stage renal disease ISO RGD:733595 D RGD:9068941 20200609 RGD PMID:9730702|REF_RGD_ID:7175286 12246503 ADRB2 adrenoceptor beta 2 gene DOID:820 myocarditis ISO RGD:2060 D RGD:9068941 20200609 RGD PMID:16908771|REF_RGD_ID:5129151 12246503 ADRB2 adrenoceptor beta 2 gene DOID:850 lung disease ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11436944 12246503 ADRB2 adrenoceptor beta 2 gene DOID:8577 ulcerative colitis ISO RGD:2060 D RGD:9068941 20200609 RGD protein:decreased expression:large intestine mucosa,spleen PMID:22772914|REF_RGD_ID:7175063 12246503 ADRB2 adrenoceptor beta 2 gene DOID:863 nervous system disease ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 12246503 ADRB2 adrenoceptor beta 2 gene DOID:8893 psoriasis ISO RGD:733595 D RGD:9068941 20200609 RGD mRNA:decreased expression:epidermis: PMID:8763426|REF_RGD_ID:8548488 12246503 ADRB2 adrenoceptor beta 2 gene DOID:8893 psoriasis susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R16G(human) PMID:15265530|REF_RGD_ID:8548492 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17003101 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9000483 Angina Pectoris ISO RGD:733595 D RGD:9068941 20200609 RGD PMID:11527135|REF_RGD_ID:5129114 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9000495 Tremor ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:190674|PMID:7902979|PMID:8102213|PMID:9151294 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.Q27E PMID:12682000|REF_RGD_ID:1601128 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9000784 Fibrosis ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25193472 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9001472 Nasal Polyps susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism:p.R16G(human) PMID:17621827|REF_RGD_ID:8548469 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2060 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:19785950|REF_RGD_ID:5129118 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25193472 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18454446 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9003637 Vestibulocochlear Nerve Injuries ISO RGD:2060 D RGD:9068941 20200609 RGD mRNA:increased expression:Vestibulocochlear nerve: PMID:22178544|REF_RGD_ID:8548530 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9004009 Reperfusion Injury ISO RGD:2060 D RGD:9068941 20200609 RGD PMID:14630341|PMID:18336819|REF_RGD_ID:1598754|REF_RGD_ID:4145097 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9004086 AIDS Dementia Complex ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27400929 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9004484 Sepsis ISO RGD:2060 D RGD:9068941 20200609 RGD PMID:16603198|REF_RGD_ID:1598745 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9004484 Sepsis ISO RGD:2060 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver: PMID:10409266|REF_RGD_ID:8548498 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9004616 Left Ventricular Hypertrophy susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphism: :p.Q27E PMID:17178264|REF_RGD_ID:1601120 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9004760 Paroxysmal Dyspnea ISO RGD:733595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, nocturnal, susceptibility to PMID:11739457|PMID:14557466|PMID:15500895|PMID:15867853|PMID:16596417|PMID:28492532|PMID:7706471|PMID:9399946|PMID:9399966|PMID:9522789 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.Q27E PMID:17020471|REF_RGD_ID:1601121 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.R16G, p.Q27E PMID:14557466|REF_RGD_ID:1601127 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733595 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9554809 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9007692 Insulin Resistance ISO RGD:2060 D RGD:9068941 20200609 RGD PMID:11510954|REF_RGD_ID:1598757 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9007692 Insulin Resistance ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19034036 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9007692 Insulin Resistance ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.R16G PMID:15699455|REF_RGD_ID:1601125 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2060 D RGD:9068941 20200609 RGD PMID:16269402|REF_RGD_ID:1598746 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9008691 Liver Injury ISO RGD:2060 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:8855951|REF_RGD_ID:8548508 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.R16G, p.Q27E PMID:17221209|REF_RGD_ID:1601119 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9452 fatty liver disease ISO RGD:733595 D RGD:9068941 20200609 RGD PMID:11718682|REF_RGD_ID:1559320 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9970 obesity ISO RGD:10106|RGD:10110 D RGD:9068941 20230506 RGD PMID:12161655|REF_RGD_ID:737773 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9970 obesity ISO RGD:733595 D RGD:9068941 20230506 CTD CTD Direct Evidence: marker/mechanism PMID:15687340 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9970 obesity no_association ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.R16G, p.Q27E PMID:17221209|REF_RGD_ID:1601119 12246503 ADRB2 adrenoceptor beta 2 gene DOID:9970 obesity susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.R16G, p.Q27E PMID:17027833|REF_RGD_ID:1601122 12246508 RPS16 ribosomal protein S16 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:737248 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12246508 RPS16 ribosomal protein S16 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:737248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12246508 RPS16 ribosomal protein S16 gene DOID:1342 congenital hypoplastic anemia ISO RGD:737248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12246508 RPS16 ribosomal protein S16 gene DOID:2340 craniosynostosis ISO RGD:737248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12246508 RPS16 ribosomal protein S16 gene DOID:630 genetic disease ISO RGD:737248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246508 RPS16 ribosomal protein S16 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:737248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12246508 RPS16 ribosomal protein S16 gene DOID:9269 maple syrup urine disease ISO RGD:737248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12246508 RPS16 ribosomal protein S16 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737248 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12246518 SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 12246518 SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1315310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12246518 SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1315310 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 12246518 SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1315310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12246518 SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1315310 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12246518 SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 12246518 SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1315310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12246518 SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:630 genetic disease ISO RGD:1315310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246518 SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:9007188 Liver Neoplasms ISO RGD:1315310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12246518 SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1315310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 12246530 PDP1 pyruvate dehydrogenase phosphatase catalytic subunit 1 gene DOID:0050777 Joubert syndrome ISO RGD:731545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:20232449|PMID:23559409|PMID:28492532 12246530 PDP1 pyruvate dehydrogenase phosphatase catalytic subunit 1 gene DOID:3649 pyruvate decarboxylase deficiency IAGP D RGD:12801476 20210603 OMIA Pyruvate dehydrogenase deficiency PMID:516334|PMID:15049576|PMID:7361423|PMID:552740|PMID:17095275 12246530 PDP1 pyruvate dehydrogenase phosphatase catalytic subunit 1 gene DOID:630 genetic disease ISO RGD:731545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12246530 PDP1 pyruvate dehydrogenase phosphatase catalytic subunit 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29335542 12246530 PDP1 pyruvate dehydrogenase phosphatase catalytic subunit 1 gene DOID:9005740 Pyruvate Dehydrogenase Phosphatase Deficiency ISO RGD:731545 D RGD:7240710 20180130 OMIM 12246530 PDP1 pyruvate dehydrogenase phosphatase catalytic subunit 1 gene DOID:9005740 Pyruvate Dehydrogenase Phosphatase Deficiency ISO RGD:731545 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency PMID:15855260|PMID:19184109|PMID:25741868|PMID:28492532|PMID:31392110 12246530 PDP1 pyruvate dehydrogenase phosphatase catalytic subunit 1 gene DOID:9970 obesity ISO RGD:731545 D RGD:9068941 20200609 RGD protein:decreased activity:circulating lymphocytes PMID:15897476|REF_RGD_ID:1642637 12246536 YME1L1 YME1 like 1 ATPase gene DOID:0111436 optic atrophy 11 ISO RGD:733459 D RGD:7240710 20190315 OMIM 12246536 YME1L1 YME1 like 1 ATPase gene DOID:0111436 optic atrophy 11 ISO RGD:733459 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Optic atrophy 11 PMID:25741868|PMID:27495975|PMID:28492532 12246536 YME1L1 YME1 like 1 ATPase gene DOID:10907 microcephaly ISO RGD:733459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12246536 YME1L1 YME1 like 1 ATPase gene DOID:12930 dilated cardiomyopathy ISO RGD:733460 D RGD:9068941 20220825 MouseDO 12246536 YME1L1 YME1 like 1 ATPase gene DOID:2843 long QT syndrome ISO RGD:733459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12246536 YME1L1 YME1 like 1 ATPase gene DOID:630 genetic disease ISO RGD:733459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12246560 TTC23L tetratricopeptide repeat domain 23 like gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:1603175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 12246560 TTC23L tetratricopeptide repeat domain 23 like gene DOID:630 genetic disease ISO RGD:1603175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246560 TTC23L tetratricopeptide repeat domain 23 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12246586 TTR transthyretin gene DOID:0050451 Brugada syndrome ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:10439123|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29875424|PMID:31371117|PMID:35903975 12246586 TTR transthyretin gene DOID:0050638 transthyretin amyloidosis ISO RGD:737331 D RGD:7240710 20180130 OMIM 12246586 TTR transthyretin gene DOID:0050638 transthyretin amyloidosis ISO RGD:737331 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED | ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis | ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis | ClinVar Annotator: match by term: Transthyretin amyloidosis PMID:10036587|PMID:10071047|PMID:10211412|PMID:10439117|PMID:10439123|PMID:10449136|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10611949|PMID:10611950|PMID:10671063|PMID:10677864|PMID:10762172|PMID:10772944|PMID:10794728|PMID:10842705|PMID:10842715|PMID:10842720|PMID:10845569|PMID:10923048|PMID:10924339|PMID:11243784|PMID:11261421|PMID:11385707|PMID:11445644|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11812437|PMID:11866053|PMID:11940682|PMID:12000195|PMID:12000196|PMID:12039669|PMID:12050338|PMID:12217248|PMID:12351683|PMID:12433265|PMID:12440483|PMID:12440486|PMID:12557757|PMID:12557758|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12757474|PMID:12762139|PMID:12771253|PMID:12779320|PMID:12874413|PMID:12874414|PMID:12874858|PMID:1301926|PMID:1330202|PMID:1335038|PMID:13367520|PMID:1351039|PMID:1353008|PMID:1353861|PMID:1355416|PMID:1356051|PMID:1358785|PMID:13593935|PMID:1362222|PMID:13894830|PMID:1436517|PMID:14404854|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14640031|PMID:14673473|PMID:14695346|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15110620|PMID:15123043|PMID:15185492|PMID:1520326|PMID:1520336|PMID:15205369|PMID:15214015|PMID:15217993|PMID:15249622|PMID:15299640|PMID:15377697|PMID:1544214|PMID:15478468|PMID:1547960|PMID:15523922|PMID:15645642|PMID:1570831|PMID:15735344|PMID:15753613|PMID:15793844|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16076613|PMID:1618497|PMID:16194874|PMID:16194875|PMID:16199547|PMID:1626556|PMID:1626570|PMID:16357452|PMID:16362527|PMID:16387053|PMID:16399646|PMID:16432141|PMID:16439621|PMID:1644201|PMID:16448460|PMID:16530227|PMID:1656975|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17028027|PMID:17062380|PMID:17143887|PMID:17251346|PMID:1729888|PMID:1729893|PMID:17338921|PMID:1734866|PMID:17431395|PMID:17431450|PMID:17453626|PMID:17484624|PMID:17503405|PMID:17551924|PMID:17554795|PMID:17576681|PMID:17577687|PMID:17577688|PMID:17698792|PMID:1786038|PMID:17968687|PMID:17968690|PMID:18022643|PMID:18042262|PMID:18069997|PMID:18074076|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:1850191|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19291509|PMID:1932142|PMID:19364362|PMID:19365058|PMID:19372189|PMID:19428025|PMID:19467548|PMID:19491989|PMID:19602727|PMID:19644733|PMID:19709674|PMID:19752327|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:20536403|PMID:20558946|PMID:2063870|PMID:20660862|PMID:20686303|PMID:20697105|PMID:20714957|PMID:20840742|PMID:20937937|PMID:20981092|PMID:2122246|PMID:21406045|PMID:21490715|PMID:21520333|PMID:21540676|PMID:21550574|PMID:21557933|PMID:21600538|PMID:2161654|PMID:21692911|PMID:2174830|PMID:21749890|PMID:21843040|PMID:21992998|PMID:22083004|PMID:22106346|PMID:22149423|PMID:22184092|PMID:22187309|PMID:22209138|PMID:22320251|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22400056|PMID:22412233|PMID:22449240|PMID:22494066|PMID:22531659|PMID:22551192|PMID:22580845|PMID:22592564|PMID:22620962|PMID:22620967|PMID:22745357|PMID:22747647|PMID:22877808|PMID:22928869|PMID:22973891|PMID:22995991|PMID:23080516|PMID:23126592|PMID:23193944|PMID:2320592|PMID:23240369|PMID:23278526|PMID:23279339|PMID:23317988|PMID:23346293|PMID:23387326|PMID:23438977|PMID:2349941|PMID:23523753|PMID:23580146|PMID:2360796|PMID:2363717|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23905621|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24053266|PMID:24061768|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24358189|PMID:24368466|PMID:24412190|PMID:24455802|PMID:24474780|PMID:24480837|PMID:24517438|PMID:24555660|PMID:24563469|PMID:24601850|PMID:24613567|PMID:24633258 12246586 TTR transthyretin gene DOID:0050638 transthyretin amyloidosis ISO RGD:737331 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED | ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis | ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis | ClinVar Annotator: match by term: Transthyretin amyloidosis PMID:24650283|PMID:24664531|PMID:24767411|PMID:24779883|PMID:24800914|PMID:24818650|PMID:24953234|PMID:24955979|PMID:25037766|PMID:25044787|PMID:2510740|PMID:25130926|PMID:25211232|PMID:25291558|PMID:25311081|PMID:25395306|PMID:25408161|PMID:25412400|PMID:25430583|PMID:25488473|PMID:25519307|PMID:25525159|PMID:25526974|PMID:25550818|PMID:25551524|PMID:25628512|PMID:25636337|PMID:2564060|PMID:25644864|PMID:25721874|PMID:25741868|PMID:25743335|PMID:25743445|PMID:25819286|PMID:25828388|PMID:25846356|PMID:25857202|PMID:2590199|PMID:25973863|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:26123280|PMID:2613237|PMID:26156087|PMID:26208957|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26342004|PMID:26361241|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26529114|PMID:26537620|PMID:26587769|PMID:26656838|PMID:26894299|PMID:26959691|PMID:26984605|PMID:26986100|PMID:27025994|PMID:27033334|PMID:27066555|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27238058|PMID:27249223|PMID:27273296|PMID:27350016|PMID:27386769|PMID:27466465|PMID:27501389|PMID:27519456|PMID:27532257|PMID:27562180|PMID:27584576|PMID:27589730|PMID:27618855|PMID:27646980|PMID:27652282|PMID:27720586|PMID:27724962|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27858761|PMID:27859927|PMID:27885756|PMID:28188196|PMID:28272196|PMID:28335735|PMID:28393577|PMID:2840822|PMID:28460244|PMID:28475415|PMID:28484271|PMID:28492532|PMID:28494620|PMID:2856994|PMID:2857043|PMID:28635949|PMID:28646538|PMID:28762097|PMID:2877582|PMID:28798025|PMID:28802308|PMID:28878402|PMID:28882124|PMID:28911993|PMID:2891727|PMID:2896079|PMID:28991715|PMID:29121657|PMID:29246775|PMID:29277593|PMID:29322995|PMID:29407121|PMID:29423915|PMID:29455155|PMID:29493581|PMID:29520877|PMID:29524093|PMID:29540472|PMID:29607936|PMID:29764897|PMID:29801893|PMID:2981253|PMID:29875424|PMID:29883834|PMID:29941560|PMID:30019395|PMID:30039724|PMID:30070416|PMID:30093168|PMID:3011930|PMID:30198232|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30226982|PMID:30243104|PMID:3030336|PMID:30306720|PMID:30311386|PMID:30328212|PMID:30336828|PMID:30350904|PMID:30361054|PMID:30553273|PMID:30572722|PMID:30604309|PMID:30683924|PMID:30685801|PMID:30811423|PMID:30813263|PMID:30847666|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31006018|PMID:31018485|PMID:31074293|PMID:31103217|PMID:31135624|PMID:31139689|PMID:31257920|PMID:31343308|PMID:31343348|PMID:31348283|PMID:31359320|PMID:31371117|PMID:31502881|PMID:31554435|PMID:31589614|PMID:31648569|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:3178532|PMID:31821430|PMID:31919945|PMID:31932463|PMID:31980526|PMID:32000831|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32393063|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32746448|PMID:32749600|PMID:32789836|PMID:32852783|PMID:32861330|PMID:32880476|PMID:32893242|PMID:32925285|PMID:33038745|PMID:33114611|PMID:33283548|PMID:33345470|PMID:33373035|PMID:3340821|PMID:33411102|PMID:33726816|PMID:33739616|PMID:33844361|PMID:34024775|PMID:34317109|PMID:34380564|PMID:34391735|PMID:34440326|PMID:3457802|PMID:34658264|PMID:3479441|PMID:35451899|PMID:35717381|PMID:35903975|PMID:35933469|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3760189|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:4884226|PMID:4952599|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6099706|PMID:6100724|PMID:6168726|PMID:6208668|PMID:6300852|PMID:6310716|PMID:6311926|PMID:6487335|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:6801514|PMID:7018469|PMID:7389759|PMID:7417777|PMID:7599630|PMID:7608709|PMID:7643356|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7850982|PMID:7868124|PMID:7906282|PMID:7910950|PMID:7914929|PMID:7923855|PMID:7951260|PMID:8038017|PMID:8064809|PMID:8071954|PMID:8081397|PMID:8095073|PMID:8095301|PMID:8095302|PMID:8100581|PMID:8102146 12246586 TTR transthyretin gene DOID:0050638 transthyretin amyloidosis ISO RGD:737331 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED | ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis | ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis | ClinVar Annotator: match by term: Transthyretin amyloidosis PMID:8133316|PMID:8194279|PMID:8218290|PMID:8257997|PMID:8275943|PMID:8309582|PMID:8345041|PMID:8352764|PMID:8406434|PMID:8428916|PMID:8509786|PMID:8536704|PMID:8563114|PMID:8579098|PMID:8692810|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:8960746|PMID:8990019|PMID:9017939|PMID:9017946|PMID:9066351|PMID:9090525|PMID:9196903|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9536098|PMID:9547003|PMID:9605286|PMID:9627498|PMID:9701270|PMID:9748014|PMID:9748569|PMID:9771673|PMID:9798666|PMID:9818054|PMID:9818883|PMID:9843084 12246586 TTR transthyretin gene DOID:0050700 cardiomyopathy ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10211412|PMID:10439123|PMID:10453736|PMID:10465115|PMID:10506096|PMID:10529370|PMID:10762172|PMID:10772944|PMID:10842715|PMID:11243784|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12000195|PMID:12050338|PMID:12217248|PMID:12351683|PMID:12433265|PMID:12440486|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15123043|PMID:15185492|PMID:15217993|PMID:15249622|PMID:1547960|PMID:15523922|PMID:1570831|PMID:15735344|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:1626556|PMID:16362527|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17251346|PMID:1729893|PMID:17431395|PMID:17431450|PMID:17503405|PMID:17551924|PMID:17577687|PMID:17698792|PMID:17968687|PMID:18042262|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19364362|PMID:19428025|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20660862|PMID:20840742|PMID:20981092|PMID:2122246|PMID:21557933|PMID:21600538|PMID:2174830|PMID:21992998|PMID:22083004|PMID:22184092|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22449240|PMID:22531659|PMID:22592564|PMID:22620962|PMID:22745357|PMID:22877808|PMID:22995991|PMID:23080516|PMID:2320592|PMID:23387326|PMID:2349941|PMID:23580146|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24455802|PMID:24474780|PMID:24503780|PMID:24517438|PMID:24555660|PMID:24601850|PMID:24633258|PMID:24800914|PMID:24818650|PMID:24955979|PMID:25311081|PMID:25395306|PMID:25430583|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:25628512|PMID:2564060|PMID:25741868|PMID:25743335|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26537620|PMID:26587769|PMID:26959691|PMID:27033334|PMID:2714785|PMID:27188913|PMID:27249223|PMID:27386769|PMID:27532257|PMID:27562180|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27885756|PMID:2840822|PMID:28475415|PMID:28492532|PMID:2856994|PMID:2857043|PMID:28635949|PMID:2896079|PMID:29121657|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29764897|PMID:2981253|PMID:29875424|PMID:30019395|PMID:30093168|PMID:3011930|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30328212|PMID:30572722|PMID:30683924|PMID:30813263|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31135624|PMID:31139689|PMID:31343348|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32852783|PMID:32880476|PMID:32893242|PMID:33373035|PMID:33726816|PMID:33739616|PMID:3457802|PMID:3479441|PMID:35903975|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:6801514|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7923855 12246586 TTR transthyretin gene DOID:0050700 cardiomyopathy ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:8064809|PMID:8071954|PMID:8095073|PMID:8100581|PMID:8102146|PMID:8194279|PMID:8275943|PMID:8345041|PMID:8428916|PMID:8563114|PMID:8698351|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9818054|PMID:9818883 12246586 TTR transthyretin gene DOID:0050860 colorectal adenoma ISO RGD:737331 D RGD:9068941 20220310 RGD protein:decreased expression:blood serum (human) PMID:21136704|REF_RGD_ID:151664608 12246586 TTR transthyretin gene DOID:0050860 colorectal adenoma ISO RGD:737331 D RGD:9068941 20220317 RGD protein:decreased expression:colorectum (human) PMID:33739034|REF_RGD_ID:151660505 12246586 TTR transthyretin gene DOID:0050866 oral squamous cell carcinoma ISO RGD:737331 D RGD:9068941 20220310 RGD protein:increased expression:saliva (human) PMID:23784731|REF_RGD_ID:151664609 12246586 TTR transthyretin gene DOID:0080219 dystransthyretinemic hyperthyroxinemia ISO RGD:737331 D RGD:7240710 20180130 OMIM 12246586 TTR transthyretin gene DOID:0080219 dystransthyretinemic hyperthyroxinemia ISO RGD:737331 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: EUTHRYROIDAL HYPERTHYROXINEMIA 2 | ClinVar Annotator: match by term: Hyperthyroxinemia, dystransthyretinemic PMID:10211412|PMID:10439123|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10611950|PMID:10671063|PMID:10762172|PMID:10842715|PMID:10923048|PMID:11385707|PMID:11523162|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11866053|PMID:11940682|PMID:12039669|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12566023|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1335038|PMID:1351039|PMID:1353008|PMID:1358785|PMID:14569203|PMID:14640030|PMID:14640031|PMID:14673473|PMID:1490495|PMID:14986482|PMID:15123043|PMID:15185492|PMID:15249622|PMID:15299640|PMID:1547960|PMID:15523922|PMID:15645642|PMID:1570831|PMID:15753613|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17062380|PMID:17251346|PMID:17338921|PMID:17503405|PMID:17551924|PMID:17554795|PMID:17698792|PMID:1786038|PMID:18022643|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18460047|PMID:18506713|PMID:18606975|PMID:1867256|PMID:18830126|PMID:18863976|PMID:18925456|PMID:192115|PMID:19364362|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:2063870|PMID:20697105|PMID:20714957|PMID:20840742|PMID:20937937|PMID:20981092|PMID:21520333|PMID:21540676|PMID:21600538|PMID:21692911|PMID:21749890|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22382560|PMID:22412233|PMID:22531659|PMID:22551192|PMID:22592564|PMID:22620962|PMID:22620967|PMID:22745357|PMID:22877808|PMID:22928869|PMID:22995991|PMID:23080516|PMID:23193944|PMID:2320592|PMID:23240369|PMID:23279339|PMID:23387326|PMID:2349941|PMID:2363717|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24053266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24455802|PMID:24474780|PMID:24480837|PMID:24517438|PMID:24555660|PMID:24563469|PMID:24601850|PMID:24633258|PMID:24767411|PMID:24800914|PMID:24818650|PMID:25395306|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:25636337|PMID:2564060|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25973863|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:26208957|PMID:2624269|PMID:26243339|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26529114|PMID:26537620|PMID:26587769|PMID:26894299|PMID:27025994|PMID:27066555|PMID:2714785|PMID:27188913|PMID:27273296|PMID:27350016|PMID:27386769|PMID:27532257|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:28188196|PMID:2840822|PMID:28475415|PMID:28492532|PMID:2856994|PMID:2857043|PMID:28635949|PMID:28762097|PMID:2877582|PMID:28798025|PMID:28882124|PMID:2891727|PMID:2896079|PMID:29121657|PMID:29407121|PMID:29423915|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29607936|PMID:29764897|PMID:29875424|PMID:30019395|PMID:30070416|PMID:30093168|PMID:3011930|PMID:30198232|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30306720|PMID:30328212|PMID:30336828|PMID:30350904|PMID:30361054|PMID:30572722|PMID:30683924|PMID:30811423|PMID:30813263|PMID:30847666|PMID:30938420|PMID:30953182|PMID:31006018|PMID:31018485|PMID:31103217|PMID:31135624|PMID:31139689|PMID:31343308|PMID:31343348|PMID:31348283|PMID:31359320|PMID:31371117|PMID:31502881|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32746448|PMID:32852783|PMID:32880476|PMID:32893242|PMID:32925285|PMID:33373035|PMID:33411102|PMID:33726816|PMID:33739616|PMID:3457802|PMID:34658264|PMID:3479441|PMID:35903975|PMID:3627183|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249 12246586 TTR transthyretin gene DOID:0080219 dystransthyretinemic hyperthyroxinemia ISO RGD:737331 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: EUTHRYROIDAL HYPERTHYROXINEMIA 2 | ClinVar Annotator: match by term: Hyperthyroxinemia, dystransthyretinemic PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:6801514|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7839813|PMID:7868124|PMID:7914929|PMID:8038017|PMID:8064809|PMID:8071954|PMID:8081397|PMID:8095073|PMID:8100581|PMID:8133316|PMID:8194279|PMID:8275943|PMID:8345041|PMID:8428916|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9475090|PMID:9748014|PMID:9771673 12246586 TTR transthyretin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:26537620|PMID:28492532|PMID:30683924|PMID:31554435 12246586 TTR transthyretin gene DOID:0110081 arrhythmogenic right ventricular dysplasia 10 ISO RGD:737331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 PMID:28492532 12246586 TTR transthyretin gene DOID:0110269 cataract 3 multiple types ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CATARACT 3, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 12246586 TTR transthyretin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:1355416|PMID:14640030|PMID:15185492|PMID:1850190|PMID:19428025|PMID:1997217|PMID:2174830|PMID:22332999|PMID:24033266|PMID:24955979|PMID:25741868|PMID:2590199|PMID:26537620|PMID:28492532|PMID:30683924|PMID:31554435|PMID:6736244|PMID:7923855|PMID:8102146|PMID:9090525 12246586 TTR transthyretin gene DOID:0110351 osteogenesis imperfecta type 11 ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type XI PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 12246586 TTR transthyretin gene DOID:10534 stomach cancer severity ISO RGD:737331 D RGD:9068941 20220310 RGD protein:decreased expression:blood serum (human) PMID:29804846|REF_RGD_ID:151664603 12246586 TTR transthyretin gene DOID:1059 intellectual disability ISO RGD:737331 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12246586 TTR transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10439123|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10762172|PMID:10772944|PMID:10842715|PMID:11243784|PMID:11385707|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11812437|PMID:11866053|PMID:11940682|PMID:12000195|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12440486|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:14569203|PMID:14640030|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15123043|PMID:15185492|PMID:1520326|PMID:15217993|PMID:15249622|PMID:1544214|PMID:1547960|PMID:15523922|PMID:1570831|PMID:15735344|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:1626556|PMID:16362527|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17251346|PMID:1729893|PMID:17431395|PMID:17431450|PMID:17503405|PMID:17551924|PMID:17698792|PMID:17968687|PMID:18042262|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19364362|PMID:19428025|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:19808383|PMID:1981182|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:2063870|PMID:20660862|PMID:20840742|PMID:2122246|PMID:21406045|PMID:21557933|PMID:21600538|PMID:2174830|PMID:21992998|PMID:22083004|PMID:22184092|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22449240|PMID:22620962|PMID:22745357|PMID:22877808|PMID:23080516|PMID:2320592|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:23638696|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24368466|PMID:24455802|PMID:24474780|PMID:24503780|PMID:24517438|PMID:24555660|PMID:24601850|PMID:24633258|PMID:24800914|PMID:24818650|PMID:24955979|PMID:25311081|PMID:25395306|PMID:25430583|PMID:25519307|PMID:25550818|PMID:25551524|PMID:2564060|PMID:25644864|PMID:25741868|PMID:25743335|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26017327|PMID:26088020|PMID:26115788|PMID:26123279|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26521788|PMID:26537620|PMID:26610878|PMID:26894299|PMID:26959691|PMID:27033334|PMID:2714785|PMID:27188913|PMID:27249223|PMID:27364045|PMID:27386769|PMID:27532257|PMID:27562180|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27885756|PMID:28166811|PMID:2840822|PMID:28475415|PMID:28492532|PMID:28494620|PMID:2856994|PMID:2857043|PMID:28635949|PMID:2877582|PMID:28798025|PMID:2891727|PMID:2896079|PMID:29016222|PMID:29048471|PMID:29121657|PMID:29351628|PMID:29493581|PMID:2981253|PMID:3011930|PMID:3022107|PMID:3022108|PMID:3022697|PMID:3030336|PMID:30328212|PMID:30350904|PMID:30683924|PMID:30813263|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31135624|PMID:31139689|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31728576|PMID:31740141|PMID:31821430|PMID:3229002|PMID:32376792|PMID:32674397|PMID:3457802|PMID:3479441|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7923855|PMID:8064809|PMID:8071954|PMID:8100581|PMID:8102146|PMID:8194279|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9748014|PMID:9771673|PMID:9818054|PMID:9818883|PMID:9843084 12246586 TTR transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10439123|PMID:10453736|PMID:10465115|PMID:10506096|PMID:10529370|PMID:10762172|PMID:10772944|PMID:10842715|PMID:11243784|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11812437|PMID:11866053|PMID:11940682|PMID:12000195|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12440486|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15123043|PMID:15185492|PMID:1520326|PMID:15217993|PMID:15249622|PMID:1544214|PMID:1547960|PMID:15523922|PMID:1570831|PMID:15735344|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:1626556|PMID:16362527|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17251346|PMID:1729893|PMID:17431395|PMID:17431450|PMID:17503405|PMID:17551924|PMID:17698792|PMID:17968687|PMID:18042262|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19364362|PMID:19428025|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20660862|PMID:20840742|PMID:20981092|PMID:2122246|PMID:21406045|PMID:21557933|PMID:21600538|PMID:2174830|PMID:21992998|PMID:22083004|PMID:22184092|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22449240|PMID:22531659|PMID:22592564|PMID:22620962|PMID:22745357|PMID:22877808|PMID:22995991|PMID:23080516|PMID:2320592|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24368466|PMID:24455802|PMID:24474780|PMID:24503780|PMID:24517438|PMID:24555660|PMID:24601850|PMID:24633258|PMID:24800914|PMID:24818650|PMID:24955979|PMID:25311081|PMID:25395306|PMID:25430583|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:2564060|PMID:25644864|PMID:25741868|PMID:25743335|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26537620|PMID:26587769|PMID:26610878|PMID:26894299|PMID:26959691|PMID:27033334|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27249223|PMID:27364045|PMID:27386769|PMID:27532257|PMID:27562180|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27885756|PMID:2840822|PMID:28475415|PMID:28492532|PMID:28494620|PMID:2856994|PMID:2857043|PMID:28635949|PMID:2877582|PMID:2891727|PMID:2896079|PMID:29016222|PMID:29048471|PMID:29121657|PMID:29351628|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29764897|PMID:2981253|PMID:29875424|PMID:30019395|PMID:30093168|PMID:3011930|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30328212|PMID:30350904|PMID:30572722|PMID:30683924|PMID:30813263|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31135624|PMID:31139689|PMID:31343348|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32852783|PMID:32880476|PMID:32893242|PMID:33373035|PMID:33726816|PMID:33739616|PMID:3457802|PMID:3479441|PMID:35903975|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991 12246586 TTR transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7923855|PMID:8064809|PMID:8071954|PMID:8100581|PMID:8102146|PMID:8194279|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9771673|PMID:9818054|PMID:9818883|PMID:9843084 12246586 TTR transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:10439123|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10762172|PMID:10772944|PMID:10842715|PMID:11243784|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12000195|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12440486|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15123043|PMID:15185492|PMID:1520326|PMID:15217993|PMID:15249622|PMID:1544214|PMID:1547960|PMID:15523922|PMID:1570831|PMID:15735344|PMID:15753613|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:1626556|PMID:16362527|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17251346|PMID:1729893|PMID:17431395|PMID:17431450|PMID:17503405|PMID:17551924|PMID:17698792|PMID:17968687|PMID:18042262|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19364362|PMID:19428025|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:2063870|PMID:20660862|PMID:20840742|PMID:20981092|PMID:2122246|PMID:21406045|PMID:21557933|PMID:21600538|PMID:2174830|PMID:21992998|PMID:22083004|PMID:22184092|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22449240|PMID:22531659|PMID:22592564|PMID:22620962|PMID:22745357|PMID:22877808|PMID:22995991|PMID:23080516|PMID:2320592|PMID:23240369|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24368466|PMID:24455802|PMID:24474780|PMID:24503780|PMID:24517438|PMID:24555660|PMID:24601850|PMID:24633258|PMID:24800914|PMID:24818650|PMID:24955979|PMID:25311081|PMID:25395306|PMID:25430583|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:2564060|PMID:25741868|PMID:25743335|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26537620|PMID:26587769|PMID:26959691|PMID:27033334|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27249223|PMID:27386769|PMID:27532257|PMID:27562180|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27885756|PMID:2840822|PMID:28475415|PMID:28492532|PMID:2856994|PMID:2857043|PMID:28635949|PMID:2877582|PMID:28798025|PMID:2891727|PMID:2896079|PMID:29121657|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29764897|PMID:2981253|PMID:29875424|PMID:30019395|PMID:30093168|PMID:3011930|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30328212|PMID:30350904|PMID:30572722|PMID:30683924|PMID:30813263|PMID:30847666|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31135624|PMID:31139689|PMID:31343348|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32852783|PMID:32880476|PMID:32893242|PMID:33373035|PMID:33726816|PMID:33739616|PMID:3457802|PMID:3479441|PMID:35903975|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668 12246586 TTR transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7923855|PMID:8064809|PMID:8071954|PMID:8100581|PMID:8102146|PMID:8194279|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9748014|PMID:9771673|PMID:9818054|PMID:9818883|PMID:9843084 12246586 TTR transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10211412|PMID:10439123|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10762172|PMID:10772944|PMID:10842715|PMID:11243784|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12000195|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12440486|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15123043|PMID:15185492|PMID:1520326|PMID:15217993|PMID:15249622|PMID:1544214|PMID:1547960|PMID:15523922|PMID:1570831|PMID:15735344|PMID:15753613|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:1626556|PMID:16362527|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17251346|PMID:1729893|PMID:17431395|PMID:17431450|PMID:17503405|PMID:17551924|PMID:17698792|PMID:17968687|PMID:18042262|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19364362|PMID:19428025|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:2063870|PMID:20660862|PMID:20840742|PMID:20981092|PMID:2122246|PMID:21406045|PMID:21557933|PMID:21600538|PMID:2174830|PMID:21992998|PMID:22083004|PMID:22184092|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22449240|PMID:22531659|PMID:22592564|PMID:22620962|PMID:22745357|PMID:22877808|PMID:22995991|PMID:23080516|PMID:2320592|PMID:23240369|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24368466|PMID:24455802|PMID:24474780|PMID:24503780|PMID:24517438|PMID:24555660|PMID:24601850|PMID:24633258|PMID:24800914|PMID:24818650|PMID:24955979|PMID:25311081|PMID:25395306|PMID:25430583|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:2564060|PMID:25741868|PMID:25743335|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26537620|PMID:26587769|PMID:26959691|PMID:27033334|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27249223|PMID:27386769|PMID:27532257|PMID:27562180|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27885756|PMID:2840822|PMID:28475415|PMID:28492532|PMID:2856994|PMID:2857043|PMID:28635949|PMID:2877582|PMID:28798025|PMID:2891727|PMID:2896079|PMID:29121657|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29764897|PMID:2981253|PMID:29875424|PMID:30019395|PMID:30093168|PMID:3011930|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30328212|PMID:30350904|PMID:30572722|PMID:30683924|PMID:30813263|PMID:30847666|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31135624|PMID:31139689|PMID:31343348|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32852783|PMID:32880476|PMID:32893242|PMID:33373035|PMID:33726816|PMID:33739616|PMID:3457802|PMID:3479441|PMID:35903975|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724 12246586 TTR transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7923855|PMID:8064809|PMID:8071954|PMID:8100581|PMID:8102146|PMID:8194279|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9748014|PMID:9771673|PMID:9818054|PMID:9818883|PMID:9843084 12246586 TTR transthyretin gene DOID:10652 Alzheimer's disease ISO RGD:737331 D RGD:9068941 20200609 RGD PMID:16552785|REF_RGD_ID:1580525 12246586 TTR transthyretin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737331 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:14640030|PMID:20840742|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7868124 12246586 TTR transthyretin gene DOID:12169 carpal tunnel syndrome ISO RGD:737331 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carpal tunnel syndrome | ClinVar Annotator: match by term: Carpal tunnel syndrome, familial PMID:10211412|PMID:10439123|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10611950|PMID:10671063|PMID:10762172|PMID:10842715|PMID:10923048|PMID:11385707|PMID:11523162|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11866053|PMID:11940682|PMID:12039669|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12566023|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1335038|PMID:1351039|PMID:1353008|PMID:1358785|PMID:14569203|PMID:14640030|PMID:14640031|PMID:14673473|PMID:1490495|PMID:14986482|PMID:15123043|PMID:15185492|PMID:15249622|PMID:15299640|PMID:1547960|PMID:15523922|PMID:15645642|PMID:1570831|PMID:15753613|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17062380|PMID:17251346|PMID:17338921|PMID:17503405|PMID:17551924|PMID:17554795|PMID:17698792|PMID:1786038|PMID:18022643|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18460047|PMID:18506713|PMID:18606975|PMID:1867256|PMID:18830126|PMID:18863976|PMID:18925456|PMID:192115|PMID:19364362|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:2063870|PMID:20697105|PMID:20714957|PMID:20840742|PMID:20937937|PMID:20981092|PMID:21520333|PMID:21540676|PMID:21600538|PMID:21692911|PMID:21749890|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22382560|PMID:22412233|PMID:22531659|PMID:22551192|PMID:22592564|PMID:22620962|PMID:22620967|PMID:22745357|PMID:22877808|PMID:22928869|PMID:22995991|PMID:23080516|PMID:23193944|PMID:2320592|PMID:23240369|PMID:23279339|PMID:23387326|PMID:2349941|PMID:2363717|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24053266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24455802|PMID:24474780|PMID:24480837|PMID:24517438|PMID:24555660|PMID:24563469|PMID:24601850|PMID:24633258|PMID:24767411|PMID:24800914|PMID:24818650|PMID:25395306|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:25636337|PMID:2564060|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25973863|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:26208957|PMID:2624269|PMID:26243339|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26529114|PMID:26537620|PMID:26587769|PMID:26894299|PMID:27025994|PMID:27066555|PMID:2714785|PMID:27188913|PMID:27273296|PMID:27350016|PMID:27386769|PMID:27532257|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:28188196|PMID:2840822|PMID:28475415|PMID:28492532|PMID:2856994|PMID:2857043|PMID:28635949|PMID:28762097|PMID:2877582|PMID:28882124|PMID:2891727|PMID:2896079|PMID:29121657|PMID:29407121|PMID:29423915|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29607936|PMID:29764897|PMID:29875424|PMID:30019395|PMID:30070416|PMID:30093168|PMID:3011930|PMID:30198232|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30306720|PMID:30328212|PMID:30336828|PMID:30350904|PMID:30361054|PMID:30572722|PMID:30683924|PMID:30811423|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31006018|PMID:31018485|PMID:31103217|PMID:31135624|PMID:31139689|PMID:31343308|PMID:31343348|PMID:31348283|PMID:31359320|PMID:31371117|PMID:31502881|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32746448|PMID:32852783|PMID:32880476|PMID:32893242|PMID:32925285|PMID:33373035|PMID:33411102|PMID:33726816|PMID:33739616|PMID:3457802|PMID:34658264|PMID:3479441|PMID:35903975|PMID:3627183|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493 12246586 TTR transthyretin gene DOID:12169 carpal tunnel syndrome ISO RGD:737331 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carpal tunnel syndrome | ClinVar Annotator: match by term: Carpal tunnel syndrome, familial PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:6801514|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7839813|PMID:7868124|PMID:7914929|PMID:8038017|PMID:8064809|PMID:8071954|PMID:8081397|PMID:8095073|PMID:8100581|PMID:8133316|PMID:8194279|PMID:8275943|PMID:8345041|PMID:8428916|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9475090|PMID:9748014|PMID:9771673 12246586 TTR transthyretin gene DOID:12450 pancytopenia ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pancytopenia PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 12246586 TTR transthyretin gene DOID:12583 velocardiofacial syndrome ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 12246586 TTR transthyretin gene DOID:1324 lung cancer disease_progression ISO RGD:737331 D RGD:9068941 20220310 RGD protein:decreased expression:blood serum (human) PMID:20964562|REF_RGD_ID:151664750 12246586 TTR transthyretin gene DOID:1324 lung cancer sexual_dimorphism ISO RGD:737331 D RGD:9068941 20220310 RGD protein:decreased expression:blood serum (human) PMID:17683510|REF_RGD_ID:151664742 12246586 TTR transthyretin gene DOID:2316 brain ischemia ISO RGD:3916 D RGD:9068941 20200609 RGD PMID:15469881|REF_RGD_ID:1580523 12246586 TTR transthyretin gene DOID:2355 anemia ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anemia PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 12246586 TTR transthyretin gene DOID:3021 acute kidney failure ISO RGD:737331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12246586 TTR transthyretin gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 12246586 TTR transthyretin gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:737331 D RGD:9068941 20220310 RGD protein:decreased expression:blood serum (human) PMID:31031974|REF_RGD_ID:151664739 12246586 TTR transthyretin gene DOID:3910 lung adenocarcinoma ISO RGD:737331 D RGD:9068941 20220317 RGD mRNA,protein:increased expression:lung (human) PMID:26943652|REF_RGD_ID:151665207 12246586 TTR transthyretin gene DOID:4556 lung large cell carcinoma ISO RGD:737331 D RGD:9068941 20220317 RGD protein:increased expression:lung (human) PMID:26943652|REF_RGD_ID:151665207 12246586 TTR transthyretin gene DOID:4829 adenosquamous lung carcinoma ISO RGD:737331 D RGD:9068941 20220317 RGD protein:increased expression:lung (human) PMID:26943652|REF_RGD_ID:151665207 12246586 TTR transthyretin gene DOID:4947 cholangiocarcinoma ISO RGD:737331 D RGD:9068941 20220310 RGD protein:decreased expression:blood serum (human) PMID:18275060|REF_RGD_ID:151660506 12246586 TTR transthyretin gene DOID:4961 bone marrow disease ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bone marrow hypocellularity PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 12246586 TTR transthyretin gene DOID:5409 lung small cell carcinoma ISO RGD:737331 D RGD:9068941 20220317 RGD protein:increased expression:lung (human) PMID:26943652|REF_RGD_ID:151665207 12246586 TTR transthyretin gene DOID:6000 congestive heart failure ISO RGD:737331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart failure PMID:1355416|PMID:14640030|PMID:15185492|PMID:1850190|PMID:19428025|PMID:1997217|PMID:2174830|PMID:22332999|PMID:24033266|PMID:24955979|PMID:25741868|PMID:2590199|PMID:28492532|PMID:6736244|PMID:7923855|PMID:8102146|PMID:9090525 12246586 TTR transthyretin gene DOID:630 genetic disease ISO RGD:737331 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23914756 12246586 TTR transthyretin gene DOID:684 hepatocellular carcinoma ISO RGD:3916 D RGD:9068941 20220721 RGD protein:increased expression:blood serum (rat) PMID:28876464|REF_RGD_ID:151664602 12246586 TTR transthyretin gene DOID:684 hepatocellular carcinoma ISO RGD:737331 D RGD:9068941 20220317 RGD protein:decreased expression:blood serum (human) PMID:16240287|REF_RGD_ID:151665161 12246586 TTR transthyretin gene DOID:684 hepatocellular carcinoma ISO RGD:737331 D RGD:9068941 20220721 RGD protein:increased expression:blood serum (human) PMID:28876464|REF_RGD_ID:151664602 12246586 TTR transthyretin gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737331 D RGD:9068941 20220210 RGD protein:decreased expression:blood serum (human) PMID:29534342|REF_RGD_ID:151356736 12246586 TTR transthyretin gene DOID:9000081 Lymphatic Metastasis ISO RGD:737331 D RGD:9068941 20220317 RGD associated with colorectal cancer;protein:decreased expresion:blood serum (human) PMID:21074777|REF_RGD_ID:151665155 12246586 TTR transthyretin gene DOID:9000299 cardiac amyloidosis ISO RGD:737331 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:10036587|PMID:10071047|PMID:10211412|PMID:10439117|PMID:10439123|PMID:10449136|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10611949|PMID:10611950|PMID:10671063|PMID:10677864|PMID:10762172|PMID:10772944|PMID:10794728|PMID:10842705|PMID:10842715|PMID:10842720|PMID:10845569|PMID:10923048|PMID:10924339|PMID:11243784|PMID:11261421|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11812437|PMID:11866053|PMID:11940682|PMID:12000195|PMID:12000196|PMID:12039669|PMID:12050338|PMID:12217248|PMID:12351683|PMID:12433265|PMID:12440483|PMID:12440486|PMID:12557758|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12762139|PMID:12771253|PMID:12874413|PMID:12874414|PMID:12874858|PMID:1301926|PMID:1330202|PMID:1335038|PMID:13367520|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:13593935|PMID:13894830|PMID:14404854|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14640031|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15110620|PMID:15123043|PMID:15185492|PMID:1520326|PMID:15214015|PMID:15217993|PMID:15249622|PMID:15299640|PMID:1544214|PMID:15478468|PMID:1547960|PMID:15523922|PMID:15645642|PMID:1570831|PMID:15735344|PMID:15753613|PMID:15793844|PMID:15820680|PMID:15930086|PMID:16011990|PMID:1618497|PMID:16194874|PMID:16194875|PMID:1626556|PMID:1626570|PMID:16357452|PMID:16362527|PMID:16387053|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16448460|PMID:16530227|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17062380|PMID:17143887|PMID:17251346|PMID:1729888|PMID:1729893|PMID:17338921|PMID:17431395|PMID:17431450|PMID:17453626|PMID:17484624|PMID:17503405|PMID:17551924|PMID:17554795|PMID:17576681|PMID:17577687|PMID:17577688|PMID:17698792|PMID:1786038|PMID:17968687|PMID:18022643|PMID:18042262|PMID:18069997|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19291509|PMID:1932142|PMID:19364362|PMID:19428025|PMID:19467548|PMID:19491989|PMID:19602727|PMID:19644733|PMID:19709674|PMID:19752327|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:20536403|PMID:20558946|PMID:2063870|PMID:20660862|PMID:20686303|PMID:20697105|PMID:20714957|PMID:20840742|PMID:20937937|PMID:20981092|PMID:2122246|PMID:21406045|PMID:21490715|PMID:21520333|PMID:21540676|PMID:21550574|PMID:21557933|PMID:21600538|PMID:2161654|PMID:21692911|PMID:2174830|PMID:21749890|PMID:21992998|PMID:22083004|PMID:22106346|PMID:22149423|PMID:22184092|PMID:22209138|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22400056|PMID:22412233|PMID:22449240|PMID:22494066|PMID:22531659|PMID:22551192|PMID:22580845|PMID:22592564|PMID:22620962|PMID:22620967|PMID:22745357|PMID:22747647|PMID:22877808|PMID:22928869|PMID:22995991|PMID:23080516|PMID:23126592|PMID:23193944|PMID:2320592|PMID:23240369|PMID:23278526|PMID:23279339|PMID:23317988|PMID:23346293|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:2360796|PMID:2363717|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23905621|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24053266|PMID:24061768|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24358189|PMID:24412190|PMID:24455802|PMID:24474780|PMID:24480837|PMID:24517438|PMID:24555660|PMID:24563469|PMID:24601850|PMID:24633258|PMID:24650283|PMID:24767411|PMID:24779883|PMID:24800914|PMID:24818650|PMID:24953234|PMID:24955979|PMID:25037766|PMID:25044787|PMID:2510740|PMID:25130926|PMID:25211232|PMID:25291558|PMID:25311081|PMID:25395306|PMID:25408161|PMID:25412400|PMID:25430583|PMID:25488473|PMID:25519307|PMID:25525159|PMID:25526974|PMID:25550818|PMID:25551524|PMID:25628512|PMID:25636337|PMID:2564060|PMID:25644864 12246586 TTR transthyretin gene DOID:9000299 cardiac amyloidosis ISO RGD:737331 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:25721874|PMID:25741868|PMID:25743335|PMID:25743445|PMID:25819286|PMID:25828388|PMID:25846356|PMID:25857202|PMID:2590199|PMID:25973863|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2613237|PMID:26156087|PMID:26208957|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26361241|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26529114|PMID:26537620|PMID:26587769|PMID:26656838|PMID:26894299|PMID:26959691|PMID:26984605|PMID:26986100|PMID:27025994|PMID:27033334|PMID:27066555|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27238058|PMID:27249223|PMID:27273296|PMID:27350016|PMID:27386769|PMID:27466465|PMID:27501389|PMID:27519456|PMID:27532257|PMID:27562180|PMID:27584576|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27724962|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27858761|PMID:27859927|PMID:27885756|PMID:28188196|PMID:28335735|PMID:28393577|PMID:2840822|PMID:28460244|PMID:28475415|PMID:28484271|PMID:28492532|PMID:28494620|PMID:2856994|PMID:2857043|PMID:28635949|PMID:28646538|PMID:28762097|PMID:2877582|PMID:28798025|PMID:28878402|PMID:28882124|PMID:28911993|PMID:2891727|PMID:2896079|PMID:28991715|PMID:29121657|PMID:29246775|PMID:29277593|PMID:29322995|PMID:29407121|PMID:29423915|PMID:29455155|PMID:29493581|PMID:29520877|PMID:29524093|PMID:29540472|PMID:29607936|PMID:29764897|PMID:29801893|PMID:2981253|PMID:29875424|PMID:29883834|PMID:30019395|PMID:30039724|PMID:30070416|PMID:30093168|PMID:3011930|PMID:30198232|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30226982|PMID:30243104|PMID:3030336|PMID:30306720|PMID:30311386|PMID:30328212|PMID:30336828|PMID:30350904|PMID:30361054|PMID:30553273|PMID:30572722|PMID:30604309|PMID:30683924|PMID:30685801|PMID:30811423|PMID:30813263|PMID:30847666|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31006018|PMID:31018485|PMID:31074293|PMID:31103217|PMID:31135624|PMID:31139689|PMID:31257920|PMID:31343308|PMID:31343348|PMID:31348283|PMID:31359320|PMID:31371117|PMID:31502881|PMID:31554435|PMID:31589614|PMID:31648569|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:3178532|PMID:31821430|PMID:31919945|PMID:31932463|PMID:31980526|PMID:32000831|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32746448|PMID:32749600|PMID:32789836|PMID:32852783|PMID:32861330|PMID:32880476|PMID:32893242|PMID:32925285|PMID:33038745|PMID:33114611|PMID:33283548|PMID:33345470|PMID:33373035|PMID:3340821|PMID:33411102|PMID:33726816|PMID:33739616|PMID:33844361|PMID:34024775|PMID:34317109|PMID:34380564|PMID:34391735|PMID:34440326|PMID:3457802|PMID:34658264|PMID:3479441|PMID:35451899|PMID:35717381|PMID:35903975|PMID:35933469|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3760189|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:4884226|PMID:4952599|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:6801514|PMID:7018469|PMID:7389759|PMID:7599630|PMID:7608709|PMID:7643356|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7914929|PMID:7923855|PMID:7951260|PMID:8038017|PMID:8064809|PMID:8071954|PMID:8081397|PMID:8095073|PMID:8095302|PMID:8100581|PMID:8102146|PMID:8133316|PMID:8194279|PMID:8275943|PMID:8309582|PMID:8345041|PMID:8352764|PMID:8406434|PMID:8428916|PMID:8509786|PMID:8536704|PMID:8563114|PMID:8692810|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:8990019|PMID:9017939|PMID:9090525|PMID:9196903|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9536098|PMID:9547003|PMID:9627498|PMID:9701270|PMID:9748014|PMID:9748569|PMID:9771673|PMID:9798666|PMID:9818054|PMID:9818883|PMID:9843084 12246586 TTR transthyretin gene DOID:9000965 Neoplasm Metastasis ISO RGD:737331 D RGD:9068941 20220317 RGD associated with oral squamous cell carcinoma;protein:decreased expression:blood serum, saliva (human) PMID:20957082|REF_RGD_ID:151665158 12246586 TTR transthyretin gene DOID:9000965 Neoplasm Metastasis ISO RGD:737331 D RGD:9068941 20220317 RGD associated with colorectal adenocarcinoma;protein:decreased expression:colorectum (human) PMID:33739034|REF_RGD_ID:151660505 12246586 TTR transthyretin gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:737331 D RGD:9068941 20220317 RGD associated with colorectal cancer PMID:28730771|REF_RGD_ID:151665163 12246586 TTR transthyretin gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:737331 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:10036587|PMID:10071047|PMID:10211412|PMID:10439117|PMID:10439123|PMID:10449136|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10611949|PMID:10611950|PMID:10671063|PMID:10677864|PMID:10762172|PMID:10772944|PMID:10794728|PMID:10842705|PMID:10842715|PMID:10842720|PMID:10845569|PMID:10923048|PMID:10924339|PMID:11243784|PMID:11261421|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11812437|PMID:11866053|PMID:11940682|PMID:12000195|PMID:12000196|PMID:12039669|PMID:12050338|PMID:12217248|PMID:12351683|PMID:12433265|PMID:12440483|PMID:12440486|PMID:12557758|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12762139|PMID:12771253|PMID:12874413|PMID:12874414|PMID:12874858|PMID:1301926|PMID:1330202|PMID:1335038|PMID:13367520|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:13593935|PMID:13894830|PMID:14404854|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14640031|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15110620|PMID:15123043|PMID:15185492|PMID:1520326|PMID:15214015|PMID:15217993|PMID:15249622|PMID:15299640|PMID:1544214|PMID:15478468|PMID:1547960|PMID:15523922|PMID:15645642|PMID:1570831|PMID:15735344|PMID:15753613|PMID:15793844|PMID:15820680|PMID:15930086|PMID:16011990|PMID:1618497|PMID:16194874|PMID:16194875|PMID:1626556|PMID:1626570|PMID:16357452|PMID:16362527|PMID:16387053|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16448460|PMID:16530227|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17062380|PMID:17143887|PMID:17251346|PMID:1729888|PMID:1729893|PMID:17338921|PMID:17431395|PMID:17431450|PMID:17453626|PMID:17484624|PMID:17503405|PMID:17551924|PMID:17554795|PMID:17576681|PMID:17577687|PMID:17577688|PMID:17698792|PMID:1786038|PMID:17968687|PMID:18022643|PMID:18042262|PMID:18069997|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19291509|PMID:1932142|PMID:19364362|PMID:19428025|PMID:19467548|PMID:19491989|PMID:19602727|PMID:19644733|PMID:19709674|PMID:19752327|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:20536403|PMID:20558946|PMID:2063870|PMID:20660862|PMID:20686303|PMID:20697105|PMID:20714957|PMID:20840742|PMID:20937937|PMID:20981092|PMID:2122246|PMID:21406045|PMID:21490715|PMID:21520333|PMID:21540676|PMID:21550574|PMID:21557933|PMID:21600538|PMID:2161654|PMID:21692911|PMID:2174830|PMID:21749890|PMID:21992998|PMID:22083004|PMID:22106346|PMID:22149423|PMID:22184092|PMID:22209138|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22400056|PMID:22412233|PMID:22449240|PMID:22494066|PMID:22531659|PMID:22551192|PMID:22580845|PMID:22592564|PMID:22620962|PMID:22620967|PMID:22745357|PMID:22747647|PMID:22877808|PMID:22928869|PMID:22995991|PMID:23080516|PMID:23126592|PMID:23193944|PMID:2320592|PMID:23240369|PMID:23278526|PMID:23279339|PMID:23317988|PMID:23346293|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:2360796|PMID:2363717|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23905621|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24053266|PMID:24061768|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24358189|PMID:24412190|PMID:24455802|PMID:24474780|PMID:24480837|PMID:24517438|PMID:24555660|PMID:24563469|PMID:24601850|PMID:24633258|PMID:24650283|PMID:24767411|PMID:24779883|PMID:24800914|PMID:24818650|PMID:24953234|PMID:24955979|PMID:25037766|PMID:25044787|PMID:2510740|PMID:25130926|PMID:25211232|PMID:25291558|PMID:25311081|PMID:25395306|PMID:25408161|PMID:25412400|PMID:25430583|PMID:25488473|PMID:25519307|PMID:25525159|PMID:25526974|PMID:25550818|PMID:25551524|PMID:25628512|PMID:25636337|PMID:2564060|PMID:25644864 12246586 TTR transthyretin gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:737331 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:25721874|PMID:25741868|PMID:25743335|PMID:25743445|PMID:25819286|PMID:25828388|PMID:25846356|PMID:25857202|PMID:2590199|PMID:25973863|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2613237|PMID:26156087|PMID:26208957|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26361241|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26529114|PMID:26537620|PMID:26587769|PMID:26656838|PMID:26894299|PMID:26959691|PMID:26984605|PMID:26986100|PMID:27025994|PMID:27033334|PMID:27066555|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27238058|PMID:27249223|PMID:27273296|PMID:27350016|PMID:27386769|PMID:27466465|PMID:27501389|PMID:27519456|PMID:27532257|PMID:27562180|PMID:27584576|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27724962|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27858761|PMID:27859927|PMID:27885756|PMID:28188196|PMID:28335735|PMID:28393577|PMID:2840822|PMID:28460244|PMID:28475415|PMID:28484271|PMID:28492532|PMID:28494620|PMID:2856994|PMID:2857043|PMID:28635949|PMID:28646538|PMID:28762097|PMID:2877582|PMID:28798025|PMID:28878402|PMID:28882124|PMID:28911993|PMID:2891727|PMID:2896079|PMID:28991715|PMID:29121657|PMID:29246775|PMID:29277593|PMID:29322995|PMID:29407121|PMID:29423915|PMID:29455155|PMID:29493581|PMID:29520877|PMID:29524093|PMID:29540472|PMID:29607936|PMID:29764897|PMID:29801893|PMID:2981253|PMID:29875424|PMID:29883834|PMID:30019395|PMID:30039724|PMID:30070416|PMID:30093168|PMID:3011930|PMID:30198232|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30226982|PMID:30243104|PMID:3030336|PMID:30306720|PMID:30311386|PMID:30328212|PMID:30336828|PMID:30350904|PMID:30361054|PMID:30553273|PMID:30572722|PMID:30604309|PMID:30683924|PMID:30685801|PMID:30811423|PMID:30813263|PMID:30847666|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31006018|PMID:31018485|PMID:31074293|PMID:31103217|PMID:31135624|PMID:31139689|PMID:31257920|PMID:31343308|PMID:31343348|PMID:31348283|PMID:31359320|PMID:31371117|PMID:31502881|PMID:31554435|PMID:31589614|PMID:31648569|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:3178532|PMID:31821430|PMID:31919945|PMID:31932463|PMID:31980526|PMID:32000831|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32746448|PMID:32749600|PMID:32789836|PMID:32852783|PMID:32861330|PMID:32880476|PMID:32893242|PMID:32925285|PMID:33038745|PMID:33114611|PMID:33283548|PMID:33345470|PMID:33373035|PMID:3340821|PMID:33411102|PMID:33726816|PMID:33739616|PMID:33844361|PMID:34024775|PMID:34317109|PMID:34380564|PMID:34391735|PMID:34440326|PMID:3457802|PMID:34658264|PMID:3479441|PMID:35451899|PMID:35717381|PMID:35903975|PMID:35933469|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3760189|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:4884226|PMID:4952599|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:6801514|PMID:7018469|PMID:7389759|PMID:7599630|PMID:7608709|PMID:7643356|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7914929|PMID:7923855|PMID:7951260|PMID:8038017|PMID:8064809|PMID:8071954|PMID:8081397|PMID:8095073|PMID:8095302|PMID:8100581|PMID:8102146|PMID:8133316|PMID:8194279|PMID:8275943|PMID:8309582|PMID:8345041|PMID:8352764|PMID:8406434|PMID:8428916|PMID:8509786|PMID:8536704|PMID:8563114|PMID:8692810|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:8990019|PMID:9017939|PMID:9090525|PMID:9196903|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9536098|PMID:9547003|PMID:9627498|PMID:9701270|PMID:9748014|PMID:9748569|PMID:9771673|PMID:9798666|PMID:9818054|PMID:9818883|PMID:9843084 12246586 TTR transthyretin gene DOID:9001836 Cardiac Conduction Defect ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:10439123|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29875424|PMID:31371117|PMID:35903975 12246586 TTR transthyretin gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:10439123|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29875424|PMID:31371117|PMID:35903975 12246586 TTR transthyretin gene DOID:9003163 Heart Block ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:10439123|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29875424|PMID:31371117|PMID:35903975 12246586 TTR transthyretin gene DOID:9004255 Cataract, Sutural, with Punctate and Cerulean Opacities ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cataract, sutural, with punctate and cerulean opacities PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 12246586 TTR transthyretin gene DOID:9004492 Familial Amyloidosis ISO RGD:737331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary amyloidosis PMID:28492532|PMID:32393063 12246586 TTR transthyretin gene DOID:9005172 Lung Neoplasms ISO RGD:737331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17902193|PMID:19180532 12246586 TTR transthyretin gene DOID:9005236 Drug Eruptions ISO RGD:737331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21055120 12246586 TTR transthyretin gene DOID:9005698 ZTTK Syndrome ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 12246586 TTR transthyretin gene DOID:9006478 Amyloid Neuropathies ISO RGD:737331 D RGD:9068941 20200609 RGD PMID:15793844|REF_RGD_ID:1580527 12246586 TTR transthyretin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12246586 TTR transthyretin gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 12246586 TTR transthyretin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 12246586 TTR transthyretin gene DOID:9007824 Carpal Tunnel Syndrome 1 ISO RGD:737331 D RGD:7240710 20210120 OMIM 12246586 TTR transthyretin gene DOID:9007824 Carpal Tunnel Syndrome 1 ISO RGD:737331 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carpal tunnel syndrome 1 PMID:10211412|PMID:10439123|PMID:10453736|PMID:10465115|PMID:10506096|PMID:10529370|PMID:10611950|PMID:10671063|PMID:10762172|PMID:10842715|PMID:10923048|PMID:11385707|PMID:11523162|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12039669|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12566023|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1335038|PMID:1351039|PMID:1353008|PMID:1358785|PMID:14569203|PMID:14640030|PMID:14640031|PMID:14673473|PMID:1490495|PMID:14986482|PMID:15123043|PMID:15185492|PMID:15249622|PMID:15299640|PMID:1547960|PMID:15523922|PMID:15645642|PMID:1570831|PMID:15753613|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17062380|PMID:17251346|PMID:17338921|PMID:17503405|PMID:17551924|PMID:17554795|PMID:17698792|PMID:1786038|PMID:18022643|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18460047|PMID:18506713|PMID:18606975|PMID:1867256|PMID:18830126|PMID:18863976|PMID:18925456|PMID:192115|PMID:19364362|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20697105|PMID:20714957|PMID:20840742|PMID:20937937|PMID:20981092|PMID:21520333|PMID:21540676|PMID:21600538|PMID:21692911|PMID:21749890|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22382560|PMID:22412233|PMID:22531659|PMID:22551192|PMID:22592564|PMID:22620962|PMID:22620967|PMID:22745357|PMID:22877808|PMID:22928869|PMID:22995991|PMID:23080516|PMID:2320592|PMID:23240369|PMID:23387326|PMID:2349941|PMID:2363717|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24053266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24455802|PMID:24474780|PMID:24480837|PMID:24517438|PMID:24555660|PMID:24563469|PMID:24601850|PMID:24633258|PMID:24767411|PMID:24800914|PMID:24818650|PMID:25395306|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:25636337|PMID:2564060|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25973863|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:26208957|PMID:2624269|PMID:26243339|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26529114|PMID:26537620|PMID:26587769|PMID:26894299|PMID:27025994|PMID:27066555|PMID:2714785|PMID:27188913|PMID:27273296|PMID:27386769|PMID:27532257|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:2840822|PMID:28475415|PMID:28492532|PMID:2856994|PMID:2857043|PMID:28635949|PMID:28762097|PMID:2877582|PMID:28882124|PMID:2891727|PMID:2896079|PMID:29121657|PMID:29407121|PMID:29423915|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29607936|PMID:29764897|PMID:29875424|PMID:30019395|PMID:30070416|PMID:30093168|PMID:3011930|PMID:30198232|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30306720|PMID:30328212|PMID:30336828|PMID:30350904|PMID:30361054|PMID:30572722|PMID:30683924|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31006018|PMID:31018485|PMID:31103217|PMID:31135624|PMID:31139689|PMID:31343308|PMID:31343348|PMID:31348283|PMID:31359320|PMID:31371117|PMID:31502881|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32746448|PMID:32852783|PMID:32880476|PMID:32893242|PMID:32925285|PMID:33373035|PMID:33411102|PMID:33726816|PMID:33739616|PMID:3457802|PMID:34658264|PMID:3479441|PMID:35903975|PMID:3627183|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125 12246586 TTR transthyretin gene DOID:9007824 Carpal Tunnel Syndrome 1 ISO RGD:737331 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carpal tunnel syndrome 1 PMID:6801514|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7839813|PMID:7868124|PMID:7914929|PMID:8038017|PMID:8064809|PMID:8071954|PMID:8081397|PMID:8095073|PMID:8100581|PMID:8133316|PMID:8194279|PMID:8275943|PMID:8309582|PMID:8345041|PMID:8428916|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9475090|PMID:9748014|PMID:9771673 12246586 TTR transthyretin gene DOID:9120 amyloidosis ISO RGD:737331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25595224 12246586 TTR transthyretin gene DOID:9120 amyloidosis ISO RGD:737331 D RGD:9068941 20200609 RGD PMID:15536615|REF_RGD_ID:1580528 12246586 TTR transthyretin gene DOID:9256 colorectal cancer ISO RGD:737331 D RGD:9068941 20220310 RGD protein:decreased expression:blood serum (human) PMID:21136704|REF_RGD_ID:151664608 12246594 RPL36AL ribosomal protein L36a like gene DOID:630 genetic disease ISO RGD:733562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246594 RPL36AL ribosomal protein L36a like gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:733562 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12246594 RPL36AL ribosomal protein L36a like gene DOID:9562 primary ciliary dyskinesia ISO RGD:733562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12246600 COPRS coordinator of PRMT5 and differentiation stimulator gene DOID:1969 cerebral palsy ISO RGD:1602321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12246600 COPRS coordinator of PRMT5 and differentiation stimulator gene DOID:630 genetic disease ISO RGD:1602321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246600 COPRS coordinator of PRMT5 and differentiation stimulator gene DOID:9008086 Developmental Disabilities ISO RGD:1602321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 12246608 IL23A interleukin 23 subunit alpha gene DOID:0060185 Clostridium difficile colitis severity ISO RGD:1552166 D RGD:9068941 20201009 RGD PMID:26455347|REF_RGD_ID:11097134 12246608 IL23A interleukin 23 subunit alpha gene DOID:0080158 herpes simplex virus keratitis ISO RGD:1552166 D RGD:9068941 20201009 RGD mRNA;increased expression:trigeminal ganglion (mouse) PMID:12162874|REF_RGD_ID:39457946 12246608 IL23A interleukin 23 subunit alpha gene DOID:0080642 Middle East respiratory syndrome ISO RGD:1552166 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 12246608 IL23A interleukin 23 subunit alpha gene DOID:10808 gastric ulcer treatment ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:23874957|REF_RGD_ID:39458037 12246608 IL23A interleukin 23 subunit alpha gene DOID:11339 pneumocystosis ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:17403873|REF_RGD_ID:39458043 12246608 IL23A interleukin 23 subunit alpha gene DOID:11573 listeriosis ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:19923464|PMID:22966045|REF_RGD_ID:39457955|REF_RGD_ID:39457958 12246608 IL23A interleukin 23 subunit alpha gene DOID:12053 cryptococcosis severity ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:16393998|PMID:22342846|REF_RGD_ID:39457936|REF_RGD_ID:39458042 12246608 IL23A interleukin 23 subunit alpha gene DOID:12140 Chagas disease susceptibility ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:23182712|REF_RGD_ID:39457956 12246608 IL23A interleukin 23 subunit alpha gene DOID:13272 Klebsiella pneumonia severity ISO RGD:1552166 D RGD:9068941 20201009 RGD PMID:16157683|REF_RGD_ID:39457940 12246608 IL23A interleukin 23 subunit alpha gene DOID:13622 campylobacteriosis ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:27322540|PMID:27385977|REF_RGD_ID:39457954|REF_RGD_ID:39458040 12246608 IL23A interleukin 23 subunit alpha gene DOID:14262 oral candidiasis severity ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:19204111|REF_RGD_ID:39457957 12246608 IL23A interleukin 23 subunit alpha gene DOID:2123 tularemia ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:25296161|REF_RGD_ID:39458039 12246608 IL23A interleukin 23 subunit alpha gene DOID:2945 severe acute respiratory syndrome ISO RGD:1552166 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 12246608 IL23A interleukin 23 subunit alpha gene DOID:2957 pulmonary tuberculosis ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:16002675|PMID:20624887|REF_RGD_ID:39457949|REF_RGD_ID:39458036 12246608 IL23A interleukin 23 subunit alpha gene DOID:2957 pulmonary tuberculosis ISO RGD:1552166 D RGD:9068941 20201015 RGD mRNA:increased expression:lung (mouse) PMID:11801672|PMID:21156751|REF_RGD_ID:39457953|REF_RGD_ID:39458038 12246608 IL23A interleukin 23 subunit alpha gene DOID:3310 atopic dermatitis ISO RGD:731906 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:33274957 12246608 IL23A interleukin 23 subunit alpha gene DOID:630 genetic disease ISO RGD:731906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246608 IL23A interleukin 23 subunit alpha gene DOID:7148 rheumatoid arthritis ISO RGD:731906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 12246608 IL23A interleukin 23 subunit alpha gene DOID:8893 psoriasis ISO RGD:731906 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:19169254|PMID:20953190|PMID:21348542 12246608 IL23A interleukin 23 subunit alpha gene DOID:9000099 Experimental Colitis severity ISO RGD:1552166 D RGD:9068941 20201015 RGD mRNA:increased expression:colon (mouse) PMID:24028683|REF_RGD_ID:39458035 12246608 IL23A interleukin 23 subunit alpha gene DOID:9001011 Bovine Tuberculosis ISO RGD:1552166 D RGD:9068941 20201008 RGD PMID:16923792|REF_RGD_ID:39457937 12246608 IL23A interleukin 23 subunit alpha gene DOID:9002283 Experimental Allergic Asthma ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:19935773|PMID:26344076|REF_RGD_ID:11251537|REF_RGD_ID:5037240 12246608 IL23A interleukin 23 subunit alpha gene DOID:9004422 Chagas Cardiomyopathy ISO RGD:1552166 D RGD:9068941 20201008 RGD PMID:28356392|REF_RGD_ID:39457935 12246608 IL23A interleukin 23 subunit alpha gene DOID:9005106 Animal Toxoplasmosis ISO RGD:1552166 D RGD:9068941 20201009 RGD PMID:15265921|REF_RGD_ID:39457943 12246608 IL23A interleukin 23 subunit alpha gene DOID:9111 cutaneous leishmaniasis ISO RGD:1552166 D RGD:9068941 20201009 RGD PMID:29078003|REF_RGD_ID:39457938 12246608 Il23a interleukin 23, alpha subunit p19 gene DOID:9001365 Amebic Liver Abscess ISO RGD:1552166 D RGD:9068941 20201015 RGD mRNA:increased expression:liver (mouse) PMID:26809113|REF_RGD_ID:39458041 12246622 NOL6 nucleolar protein 6 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1317567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12246622 NOL6 nucleolar protein 6 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1317567 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12246622 NOL6 nucleolar protein 6 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1317567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12246622 NOL6 nucleolar protein 6 gene DOID:630 genetic disease ISO RGD:1317567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246622 NOL6 nucleolar protein 6 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12246622 NOL6 nucleolar protein 6 gene DOID:9870 galactosemia ISO RGD:1317567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12246652 WDR3 WD repeat domain 3 gene DOID:3969 thyroid gland papillary carcinoma susceptibility ISO RGD:1316699 D RGD:9068941 20200609 RGD DNA:snps, haplotype:introns: c.500+239G>A, c.*1-2382A>C (rs3765501, rs4658973) (human) PMID:20578902|REF_RGD_ID:11041898 12246652 WDR3 WD repeat domain 3 gene DOID:630 genetic disease ISO RGD:1316699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246685 HABP4 hyaluronan binding protein 4 gene DOID:1059 intellectual disability ISO RGD:1315131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12246685 HABP4 hyaluronan binding protein 4 gene DOID:630 genetic disease ISO RGD:1315131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246696 OR8S1 olfactory receptor family 8 subfamily S member 1 gene DOID:11054 urinary bladder cancer ISO RGD:1351418 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 12246696 OR8S1 olfactory receptor family 8 subfamily S member 1 gene DOID:630 genetic disease ISO RGD:1351418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246699 GPRC5D G protein-coupled receptor class C group 5 member D gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1344418 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12246699 GPRC5D G protein-coupled receptor class C group 5 member D gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1344418 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12246699 GPRC5D G protein-coupled receptor class C group 5 member D gene DOID:630 genetic disease ISO RGD:1344418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246710 ANKRD55 ankyrin repeat domain 55 gene DOID:630 genetic disease ISO RGD:1605952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246710 ANKRD55 ankyrin repeat domain 55 gene DOID:7148 rheumatoid arthritis ISO RGD:1605952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 12246710 ANKRD55 ankyrin repeat domain 55 gene DOID:9001341 Chloracne ISO RGD:1605952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12246710 ANKRD55 ankyrin repeat domain 55 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12246728 CRYAA crystallin alpha A gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:735272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12246728 CRYAA crystallin alpha A gene DOID:0110266 cataract 9 multiple types ISO RGD:735272 D RGD:7240710 20180130 OMIM 12246728 CRYAA crystallin alpha A gene DOID:0110266 cataract 9 multiple types ISO RGD:735272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CATARACT 9, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 9 multiple types | ClinVar Annotator: match by term: Cataract 9, autosomal recessive | ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 1 PMID:10684623|PMID:11006246|PMID:11123904|PMID:12601044|PMID:14512969|PMID:16564818|PMID:16735993|PMID:16862070|PMID:17296897|PMID:17724170|PMID:17937925|PMID:18056999|PMID:18085469|PMID:18302245|PMID:18587492|PMID:19182255|PMID:19503744|PMID:20079887|PMID:21042563|PMID:22045060|PMID:22140512|PMID:22216983|PMID:22347476|PMID:23255486|PMID:23379525|PMID:23441109|PMID:23508780|PMID:25018622|PMID:25694240|PMID:25741868|PMID:26542570|PMID:26694549|PMID:27307692|PMID:28179137|PMID:28492532|PMID:28839118|PMID:29386872|PMID:9467006 12246728 CRYAA crystallin alpha A gene DOID:1242 globe disease ISO RGD:735272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Globe disease PMID:17724170|PMID:19503744|PMID:22045060|PMID:22140512|PMID:22347476|PMID:23508780|PMID:25741868|PMID:28492532 12246728 CRYAA crystallin alpha A gene DOID:13141 uveitis ISO RGD:735272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578012|PMID:21850155 12246728 CRYAA crystallin alpha A gene DOID:417 autoimmune disease ISO RGD:735272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21850155 12246728 CRYAA crystallin alpha A gene DOID:630 genetic disease ISO RGD:735272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246728 CRYAA crystallin alpha A gene DOID:83 cataract ISO RGD:735272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:17724170|PMID:17937925|PMID:18587492|PMID:19503744|PMID:22045060|PMID:22140512|PMID:22347476|PMID:23379525|PMID:23441109|PMID:23508780|PMID:25018622|PMID:25694240|PMID:25741868|PMID:26694549|PMID:28179137|PMID:28492532|PMID:28839118|PMID:29386872 12246728 CRYAA crystallin alpha A gene DOID:891 progressive myoclonus epilepsy ISO RGD:735272 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12246728 CRYAA crystallin alpha A gene DOID:9002535 Cataract, Autosomal Recessive Congenital 1 ISO RGD:735272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 1 PMID:10684623|PMID:11123904|PMID:16564818|PMID:16735993|PMID:17296897|PMID:17724170|PMID:17937925|PMID:18085469|PMID:18302245|PMID:18587492|PMID:19503744|PMID:20079887|PMID:22045060|PMID:22140512|PMID:22216983|PMID:22347476|PMID:23379525|PMID:23441109|PMID:23508780|PMID:25018622|PMID:25694240|PMID:25741868|PMID:26694549|PMID:28179137|PMID:28492532|PMID:28839118|PMID:29386872|PMID:9467006 12246728 CRYAA crystallin alpha A gene DOID:9008296 Eye Abnormalities ISO RGD:735272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:17724170|PMID:19503744|PMID:22045060|PMID:22140512|PMID:22347476|PMID:23508780|PMID:25741868|PMID:28492532 12246728 CRYAA crystallin alpha A gene DOID:9263 homocystinuria ISO RGD:735272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12246728 CRYAA crystallin alpha A gene DOID:9282 ocular hypertension ISO RGD:2413 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:18626730|REF_RGD_ID:2303613 12246728 CRYAA crystallin alpha A gene DOID:9562 primary ciliary dyskinesia ISO RGD:735272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12246728 CRYAA crystallin alpha A gene DOID:9870 galactosemia ISO RGD:2413 D RGD:9068941 20200609 RGD mRNA:decreased expression:lens PMID:1707863|REF_RGD_ID:1600994 12246735 STK16 serine/threonine kinase 16 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1342506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12246735 STK16 serine/threonine kinase 16 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1342506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12246735 STK16 serine/threonine kinase 16 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1342506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12246735 STK16 serine/threonine kinase 16 gene DOID:1148 polydactyly ISO RGD:1342506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 12246735 STK16 serine/threonine kinase 16 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1342506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12246735 STK16 serine/threonine kinase 16 gene DOID:630 genetic disease ISO RGD:1342506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246735 STK16 serine/threonine kinase 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12246754 BHMT2 betaine--homocysteine S-methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1352435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246754 BHMT2 betaine--homocysteine S-methyltransferase 2 gene DOID:674 cleft palate ISO RGD:1352435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 12246754 BHMT2 betaine--homocysteine S-methyltransferase 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1352435 D RGD:9068941 20220616 RGD mRNA:altered expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 12246754 BHMT2 betaine--homocysteine S-methyltransferase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12246754 BHMT2 betaine--homocysteine S-methyltransferase 2 gene DOID:9296 cleft lip ISO RGD:1352435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 12246775 GALNT10 polypeptide N-acetylgalactosaminyltransferase 10 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348778 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12246775 GALNT10 polypeptide N-acetylgalactosaminyltransferase 10 gene DOID:630 genetic disease ISO RGD:1348778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246775 GALNT10 polypeptide N-acetylgalactosaminyltransferase 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12246775 GALNT10 polypeptide N-acetylgalactosaminyltransferase 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348778 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12246791 WNT9B Wnt family member 9B gene DOID:0080204 renal hypoplasia ISO RGD:1319983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypoplasia PMID:34145744 12246791 WNT9B Wnt family member 9B gene DOID:630 genetic disease ISO RGD:1319983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246791 WNT9B Wnt family member 9B gene DOID:784 chronic kidney disease ISO RGD:1319983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:34145744 12246791 WNT9B Wnt family member 9B gene DOID:891 progressive myoclonus epilepsy ISO RGD:1319983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:21549339|PMID:28492532 12246798 LRRC27 leucine rich repeat containing 27 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1318562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12246798 LRRC27 leucine rich repeat containing 27 gene DOID:630 genetic disease ISO RGD:1318562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246832 FAM133A family with sequence similarity 133 member A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12246832 FAM133A family with sequence similarity 133 member A gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1602817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:25741868 12246832 FAM133A family with sequence similarity 133 member A gene DOID:12849 autistic disorder ISO RGD:1602817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12246832 FAM133A family with sequence similarity 133 member A gene DOID:630 genetic disease ISO RGD:1602817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246839 SLC15A4 solute carrier family 15 member 4 gene DOID:630 genetic disease ISO RGD:733038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246839 SLC15A4 solute carrier family 15 member 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:733038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838193 12246853 TMEM176B transmembrane protein 176B gene DOID:2843 long QT syndrome ISO RGD:1606306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 12246853 TMEM176B transmembrane protein 176B gene DOID:630 genetic disease ISO RGD:1606306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246866 PRR7 proline rich 7, synaptic gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1345236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12246866 PRR7 proline rich 7, synaptic gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1345236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12246866 PRR7 proline rich 7, synaptic gene DOID:0112103 Sotos syndrome 1 ISO RGD:1345236 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 12246866 PRR7 proline rich 7, synaptic gene DOID:630 genetic disease ISO RGD:1345236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246866 PRR7 proline rich 7, synaptic gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1345236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12246876 TCN1 transcobalamin 1 gene DOID:0080600 COVID-19 ISO RGD:1349641 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12246876 TCN1 transcobalamin 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1349641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12246876 TCN1 transcobalamin 1 gene DOID:1059 intellectual disability ISO RGD:1349641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12246876 TCN1 transcobalamin 1 gene DOID:13382 megaloblastic anemia ISO RGD:1349641 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4627864 12246876 TCN1 transcobalamin 1 gene DOID:630 genetic disease ISO RGD:1349641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12246876 TCN1 transcobalamin 1 gene DOID:9003283 Transcobalamin I Deficiency ISO RGD:1349641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transcobalamin I deficiency PMID:17576681|PMID:19686235|PMID:25640679|PMID:28492532|PMID:9536098 12246901 RPL37 ribosomal protein L37 gene DOID:630 genetic disease ISO RGD:731374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246901 RPL37 ribosomal protein L37 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12246906 MIR361 microRNA mir-361 gene DOID:12849 autistic disorder ISO RGD:1346686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12246906 MIR361 microRNA mir-361 gene DOID:13580 cholestasis ISO RGD:1346686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12246906 MIR361 microRNA mir-361 gene DOID:4989 pancreatitis ISO RGD:1346686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12246906 MIR361 microRNA mir-361 gene DOID:6000 congestive heart failure ISO RGD:1346686 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12246906 MIR361 microRNA mir-361 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12246906 MIR361 microRNA mir-361 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1346686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12246909 MIR15B microRNA mir-15b gene DOID:10591 pre-eclampsia ISO RGD:1343014 D RGD:9068941 20230128 RGD miRNA:decreased expression:blood serum (human) PMID:25017274|REF_RGD_ID:155882496 12246909 MIR15B microRNA mir-15b gene DOID:2491 sensory peripheral neuropathy ISO RGD:7488977 D RGD:9068941 20200609 RGD RNA:increased expression:dorsal root ganglion: PMID:28012171|REF_RGD_ID:13782150 12246909 MIR15B microRNA mir-15b gene DOID:6000 congestive heart failure ISO RGD:1343014 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12246909 MIR15B microRNA mir-15b gene DOID:9002211 Hyperalgesia ISO RGD:7488977 D RGD:9068941 20200609 RGD PMID:28012171|REF_RGD_ID:13782150 12246909 MIR15B microRNA mir-15b gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1343014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22048643 12246909 MIR15B microRNA mir-15b gene DOID:9256 colorectal cancer ISO RGD:1343014 D RGD:9068941 20220805 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12246912 HHLA1 HHLA1 neighbor of OC90 gene DOID:630 genetic disease ISO RGD:1353531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246929 LOC102151744 uncharacterized LOC102151744 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1605538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 12246953 SMIM13 small integral membrane protein 13 gene DOID:630 genetic disease ISO RGD:5508051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246975 AMIGO3 adhesion molecule with Ig like domain 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12246975 AMIGO3 adhesion molecule with Ig like domain 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12246975 AMIGO3 adhesion molecule with Ig like domain 3 gene DOID:11446 sciatic neuropathy ISO RGD:631413 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion (rat) PMID:23613963|REF_RGD_ID:14390159 12246975 AMIGO3 adhesion molecule with Ig like domain 3 gene DOID:630 genetic disease ISO RGD:735629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12246975 AMIGO3 adhesion molecule with Ig like domain 3 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:735629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12246975 AMIGO3 adhesion molecule with Ig like domain 3 gene DOID:9001553 Spinal Cord Compression ISO RGD:631413 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:dorsal root ganglion (rat) PMID:23613963|REF_RGD_ID:14390159 12246975 AMIGO3 adhesion molecule with Ig like domain 3 gene DOID:9008091 Optic Nerve Injuries treatment ISO RGD:631413 D RGD:9068941 20200609 RGD PMID:23613963|REF_RGD_ID:14390159 12246998 TEX50 testis expressed 50 gene DOID:3755 antithrombin III deficiency ISO RGD:12879508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 12247009 VAX2 ventral anterior homeobox 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:731657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 12247009 VAX2 ventral anterior homeobox 2 gene DOID:543 dystonia ISO RGD:731657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12247009 VAX2 ventral anterior homeobox 2 gene DOID:630 genetic disease ISO RGD:731657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12247009 VAX2 ventral anterior homeobox 2 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:731657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12247034 PLN phospholamban gene DOID:0050700 cardiomyopathy ISO RGD:1349244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12610310|PMID:12639993|PMID:16235537|PMID:17655857|PMID:18056057|PMID:19139388|PMID:21167350|PMID:21282613|PMID:21332051|PMID:22137083|PMID:22427649|PMID:22707725|PMID:23308118|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25593317|PMID:25611685|PMID:25741868|PMID:25928149|PMID:26535225|PMID:26573135|PMID:26688388|PMID:26917049|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28790153|PMID:30242101|PMID:31705731|PMID:31737537 12247034 PLN phospholamban gene DOID:0060224 atrial fibrillation ISO RGD:1349244 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12247034 PLN phospholamban gene DOID:0060319 cardiac arrest ISO RGD:1349244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:12639993|PMID:16235537|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:27532257|PMID:28492532|PMID:28600387 12247034 PLN phospholamban gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1349244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12247034 PLN phospholamban gene DOID:0110324 hypertrophic cardiomyopathy 18 ISO RGD:1349244 D RGD:7240710 20180130 OMIM 12247034 PLN phospholamban gene DOID:0110324 hypertrophic cardiomyopathy 18 ISO RGD:1349244 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 18 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 18 PMID:12610310|PMID:12639993|PMID:12705874|PMID:16235537|PMID:16829191|PMID:17655857|PMID:21167350|PMID:21332051|PMID:21735565|PMID:22137083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:26573135|PMID:26688388|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28790153|PMID:31705731|PMID:31737537 12247034 PLN phospholamban gene DOID:0110439 dilated cardiomyopathy 1P ISO RGD:1349244 D RGD:7240710 20180130 OMIM 12247034 PLN phospholamban gene DOID:0110439 dilated cardiomyopathy 1P ISO RGD:1349244 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1P PMID:12610310|PMID:12639993|PMID:12705874|PMID:16235537|PMID:16829191|PMID:16897780|PMID:17655857|PMID:18056057|PMID:18241046|PMID:19139388|PMID:21167350|PMID:21282613|PMID:21332051|PMID:21735565|PMID:22137083|PMID:22427649|PMID:22707725|PMID:23308118|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24451198|PMID:24503780|PMID:24909667|PMID:25351510|PMID:25563649|PMID:25593317|PMID:25611685|PMID:25691538|PMID:25741868|PMID:25852082|PMID:25928149|PMID:26535225|PMID:26573135|PMID:26688388|PMID:26917049|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28771489|PMID:28790153|PMID:29501609|PMID:30012515|PMID:30012837|PMID:30242101|PMID:30794913|PMID:30847666|PMID:30871747|PMID:31705731|PMID:31737537|PMID:33495597|PMID:35297759 12247034 PLN phospholamban gene DOID:0110786 hereditary spastic paraplegia 35 ISO RGD:1349244 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, WITH OR WITHOUT NEURODEGENERATION PMID:12610310|PMID:16829191|PMID:21735565|PMID:28492532 12247034 PLN phospholamban gene DOID:0112229 lissencephaly 10 ISO RGD:1349244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly 10 PMID:18241046|PMID:24033266|PMID:28492532 12247034 PLN phospholamban gene DOID:1059 intellectual disability ISO RGD:1349244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 12247034 PLN phospholamban gene DOID:10907 microcephaly ISO RGD:1349244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 12247034 PLN phospholamban gene DOID:114 heart disease treatment ISO RGD:619894 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X PMID:23458196|REF_RGD_ID:7327178 12247034 PLN phospholamban gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1349244 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:12639993|PMID:16235537|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:26688388|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28790153|PMID:31705731|PMID:31737537 12247034 PLN phospholamban gene DOID:12849 autistic disorder ISO RGD:1349244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 12247034 PLN phospholamban gene DOID:12930 dilated cardiomyopathy ISO RGD:1349244 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12610310|PMID:12639993|PMID:16235537|PMID:16897780|PMID:17655857|PMID:18056057|PMID:19139388|PMID:21167350|PMID:21282613|PMID:21332051|PMID:22137083|PMID:22427649|PMID:22707725|PMID:23308118|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25593317|PMID:25611685|PMID:25691538|PMID:25741868|PMID:25852082|PMID:25928149|PMID:26535225|PMID:26917049|PMID:27532257|PMID:28492532|PMID:28600387|PMID:30012515|PMID:30012837|PMID:30847666 12247034 PLN phospholamban gene DOID:14289 Ebstein anomaly ISO RGD:1349244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ebstein anomaly 12247034 PLN phospholamban gene DOID:14717 centronuclear myopathy ISO RGD:732405 D RGD:9068941 20220825 MouseDO OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959 12247034 PLN phospholamban gene DOID:1826 epilepsy ISO RGD:1349244 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12247034 PLN phospholamban gene DOID:5844 myocardial infarction ISO RGD:1349244 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16026515|PMID:16162791 12247034 PLN phospholamban gene DOID:5844 myocardial infarction treatment ISO RGD:619894 D RGD:9068941 20200609 RGD PMID:23781262|REF_RGD_ID:7327176 12247034 PLN phospholamban gene DOID:6000 congestive heart failure treatment ISO RGD:619894 D RGD:9068941 20200609 RGD associated with Hypertension PMID:22970977|REF_RGD_ID:7327181 12247034 PLN phospholamban gene DOID:6000 congestive heart failure treatment ISO RGD:619894 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:22947202|REF_RGD_ID:7327182 12247034 PLN phospholamban gene DOID:9000495 Tremor ISO RGD:1349244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12247034 PLN phospholamban gene DOID:9000564 Prehypertension ISO RGD:619894 D RGD:9068941 20200609 RGD protein:decreased expression, decreased serine phosphorylation:superior cervical ganglion PMID:22252398|REF_RGD_ID:7327185 12247034 PLN phospholamban gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1349244 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14991071 12247034 PLN phospholamban gene DOID:9002661 Diabetes Complications ISO RGD:619894 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:diaphragm PMID:23443767|REF_RGD_ID:7327179 12247034 PLN phospholamban gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:619894 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:heart left ventricle PMID:22185592|REF_RGD_ID:7327207 12247034 PLN phospholamban gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1349244 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10734148 12247034 PLN phospholamban gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:619894 D RGD:9068941 20200609 RGD PMID:21934351|REF_RGD_ID:7327186 12247034 PLN phospholamban gene DOID:9007925 Sudden Cardiac Death ISO RGD:1349244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:12639993|PMID:16235537|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:27532257|PMID:28492532|PMID:28600387 12247034 PLN phospholamban gene DOID:9352 type 2 diabetes mellitus ISO RGD:619894 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle PMID:22621761|REF_RGD_ID:7327183 12247034 PLN phospholamban gene DOID:9767 myocardial stunning ISO RGD:1349244 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16317512 12247046 PTGR1 prostaglandin reductase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732819 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12247046 PTGR1 prostaglandin reductase 1 gene DOID:630 genetic disease ISO RGD:732819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12247046 PTGR1 prostaglandin reductase 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:621195 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:24853774|REF_RGD_ID:14401713 12247066 NMB neuromedin B gene DOID:2717 Bloom syndrome ISO RGD:1315040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12247066 NMB neuromedin B gene DOID:630 genetic disease ISO RGD:1315040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12247066 NMB neuromedin B gene DOID:9006202 Pruritus ISO RGD:1315040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29669290 12247066 NMB neuromedin B gene DOID:9256 colorectal cancer ISO RGD:1315040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12247066 NMB neuromedin B gene DOID:9970 obesity ISO RGD:1315040 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:401G>A, silent mutation in stop codon, associated with body weight (p=0.02) PMID:11194934|REF_RGD_ID:1642062 12247066 NMB neuromedin B gene DOID:9970 obesity ISO RGD:1562710 D RGD:9068941 20200609 RGD protein:increased expression:central hypothalamus:concentrations higher in obese (fa/fa) than in lean (Fa/?) male Zucker rats, not affected by weight loss PMID:1709601|REF_RGD_ID:1642063 12247066 NMB neuromedin B gene DOID:9970 obesity susceptibility ISO RGD:1315040 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:217C>A, amino acid P73T, associated with disinhibition toward food (p=0.03), susceptibility to hunger (p=0.01) and increased percent body fat (p<0.05) PMID:15585758|REF_RGD_ID:1642059 12247079 PSMB3 proteasome 20S subunit beta 3 gene DOID:630 genetic disease ISO RGD:734194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12247089 EXTL3 exostosin like glycosyltransferase 3 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:735783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12247089 EXTL3 exostosin like glycosyltransferase 3 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:735783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12247089 EXTL3 exostosin like glycosyltransferase 3 gene DOID:630 genetic disease ISO RGD:735783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12247089 EXTL3 exostosin like glycosyltransferase 3 gene DOID:9001094 Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities ISO RGD:735783 D RGD:7240710 20190315 OMIM 12247089 EXTL3 exostosin like glycosyltransferase 3 gene DOID:9001094 Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities ISO RGD:735783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunoskeletal dysplasia with neurodevelopmental abnormalities PMID:25741868|PMID:28132690|PMID:28148688|PMID:28492532 12247101 A2ML1 alpha-2-macroglobulin like 1 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1606453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 12247101 A2ML1 alpha-2-macroglobulin like 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1606453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12247101 A2ML1 alpha-2-macroglobulin like 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1606453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12247101 A2ML1 alpha-2-macroglobulin like 1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1606453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12247101 A2ML1 alpha-2-macroglobulin like 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1606453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12247101 A2ML1 alpha-2-macroglobulin like 1 gene DOID:0111621 Temtamy syndrome ISO RGD:1606453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12247101 A2ML1 alpha-2-macroglobulin like 1 gene DOID:10754 otitis media ISO RGD:1606453 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nonsyndromic otitis media | ClinVar Annotator: match by term: Otitis media | ClinVar Annotator: match by term: Otitis media, susceptibility to PMID:16199547|PMID:24824130|PMID:24896146|PMID:24939586|PMID:25741868|PMID:25862627|PMID:26121085|PMID:27484237|PMID:27618447|PMID:28492532|PMID:31009165|PMID:32165824|PMID:34426522 12247101 A2ML1 alpha-2-macroglobulin like 1 gene DOID:10754 otitis media susceptibility ISO RGD:1606453 D RGD:7240710 20190502 OMIM 12247101 A2ML1 alpha-2-macroglobulin like 1 gene DOID:3490 Noonan syndrome ISO RGD:1606453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome PMID:24939586|PMID:25741868|PMID:26446362|PMID:27942422|PMID:28492532|PMID:29750912|PMID:33082526 12247101 A2ML1 alpha-2-macroglobulin like 1 gene DOID:630 genetic disease ISO RGD:1606453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28492532|PMID:33082526 12247101 A2ML1 alpha-2-macroglobulin like 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1606453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12247140 VAX1 ventral anterior homeobox 1 gene DOID:0111804 syndromic microphthalmia 11 ISO RGD:1351722 D RGD:7240710 20180130 OMIM 12247140 VAX1 ventral anterior homeobox 1 gene DOID:0111804 syndromic microphthalmia 11 ISO RGD:1351722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia, syndromic 11 PMID:22095910|PMID:28492532 12247140 VAX1 ventral anterior homeobox 1 gene DOID:10629 microphthalmia ISO RGD:1351722 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25741868 12247140 VAX1 ventral anterior homeobox 1 gene DOID:630 genetic disease ISO RGD:1351722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12247146 YOD1 YOD1 deubiquitinase gene DOID:0050589 inflammatory bowel disease ISO RGD:1604806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 12247146 YOD1 YOD1 deubiquitinase gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1604806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 12247146 YOD1 YOD1 deubiquitinase gene DOID:12849 autistic disorder ISO RGD:1604806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12247146 YOD1 YOD1 deubiquitinase gene DOID:1540 parathyroid carcinoma ISO RGD:1604806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12247146 YOD1 YOD1 deubiquitinase gene DOID:630 genetic disease ISO RGD:1604806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12247146 YOD1 YOD1 deubiquitinase gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1604806 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12247146 YOD1 YOD1 deubiquitinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12247156 POU2F3 POU class 2 homeobox 3 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1351293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12247156 POU2F3 POU class 2 homeobox 3 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1351293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12247156 POU2F3 POU class 2 homeobox 3 gene DOID:0080690 RASopathy ISO RGD:1351293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12247156 POU2F3 POU class 2 homeobox 3 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1351293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12247156 POU2F3 POU class 2 homeobox 3 gene DOID:0111971 immunodeficiency 18 ISO RGD:1351293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12247156 POU2F3 POU class 2 homeobox 3 gene DOID:0111972 immunodeficiency 19 ISO RGD:1351293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12247156 POU2F3 POU class 2 homeobox 3 gene DOID:0111973 immunodeficiency 17 ISO RGD:1351293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12247156 POU2F3 POU class 2 homeobox 3 gene DOID:5419 schizophrenia ISO RGD:1351293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12247156 POU2F3 POU class 2 homeobox 3 gene DOID:630 genetic disease ISO RGD:1351293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12247156 POU2F3 POU class 2 homeobox 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12247156 POU2F3 POU class 2 homeobox 3 gene DOID:9007661 Dwarfism ISO RGD:1351293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12247173 UPK2 uroplakin 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1353269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12247173 UPK2 uroplakin 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1353269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12247173 UPK2 uroplakin 2 gene DOID:0080690 RASopathy ISO RGD:1353269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12247173 UPK2 uroplakin 2 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1353269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12247173 UPK2 uroplakin 2 gene DOID:0110651 long QT syndrome 10 ISO RGD:1353269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12247173 UPK2 uroplakin 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1353269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12247173 UPK2 uroplakin 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:1353269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12247173 UPK2 uroplakin 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:1353269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12247173 UPK2 uroplakin 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:1353269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12247173 UPK2 uroplakin 2 gene DOID:630 genetic disease ISO RGD:1353269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12247173 UPK2 uroplakin 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1353269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12247173 UPK2 uroplakin 2 gene DOID:9007661 Dwarfism ISO RGD:1353269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12247181 SLC15A5 solute carrier family 15 member 5 gene DOID:630 genetic disease ISO RGD:2302456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12247199 WBP2NL WBP2 N-terminal like gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1604730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12247199 WBP2NL WBP2 N-terminal like gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1604730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 12247199 WBP2NL WBP2 N-terminal like gene DOID:0112318 Schindler disease type 1 ISO RGD:1604730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 1 12247199 WBP2NL WBP2 N-terminal like gene DOID:0112319 Kanzaki disease ISO RGD:1604730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 2 12247199 WBP2NL WBP2 N-terminal like gene DOID:1059 intellectual disability ISO RGD:1604730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12247199 WBP2NL WBP2 N-terminal like gene DOID:630 genetic disease ISO RGD:1604730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12247277 SULT1C2 sulfotransferase family 1C member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1314184 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12247277 SULT1C2 sulfotransferase family 1C member 2 gene DOID:0111201 distal hereditary motor neuronopathy type 7A ISO RGD:1314184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:28492532 12247277 SULT1C2 sulfotransferase family 1C member 2 gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1314184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PMID:10431241|PMID:10431242|PMID:18854857|PMID:20979233|PMID:28492532|PMID:28981473 12247277 SULT1C2 sulfotransferase family 1C member 2 gene DOID:630 genetic disease ISO RGD:1314184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12247277 SULT1C2 sulfotransferase family 1C member 2 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1314184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:28492532 12247289 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:0050753 cerebellar ataxia ISO RGD:734125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:33242881 12247289 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:0060224 atrial fibrillation ISO RGD:734125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12247289 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:734125 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12247289 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:12849 autistic disorder ISO RGD:734125 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12247289 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:14330 Parkinson's disease ISO RGD:734126 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 12247289 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:4990 essential tremor ISO RGD:2963 D RGD:9068941 20210806 RGD DNA:missense mutation:cds:c. 866T>A (p. I289N)(rat) PMID:28917524|REF_RGD_ID:38508907 12247289 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:630 genetic disease ISO RGD:734125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16002581|PMID:25741868|PMID:28917524|PMID:33242881 12247289 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:734125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12247289 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734125 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33242881 12247289 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:9004834 Myoclonic Dystonia 34 ISO RGD:734125 D RGD:7240710 20220202 OMIM 12247289 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:9004834 Myoclonic Dystonia 34 ISO RGD:734125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 34, myoclonic PMID:32212350 12247289 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734125 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12247289 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:9007317 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES ISO RGD:734125 D RGD:7240710 20220810 OMIM 12247289 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:9007317 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES ISO RGD:734125 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without variable movement or behavioral abnormalities PMID:25741868|PMID:33242881 12247289 KCNN2 potassium calcium-activated channel subfamily N member 2 gene DOID:9008086 Developmental Disabilities ISO RGD:734125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16002581|PMID:25741868|PMID:28492532|PMID:33242881 12247309 DNAH8 dynein axonemal heavy chain 8 gene DOID:0050117 disease by infectious agent ISO RGD:1348996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent infections PMID:25741868 12247309 DNAH8 dynein axonemal heavy chain 8 gene DOID:0112164 spermatogenic failure 46 ISO RGD:1348996 D RGD:7240710 20201202 OMIM 12247309 DNAH8 dynein axonemal heavy chain 8 gene DOID:0112164 spermatogenic failure 46 ISO RGD:1348996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 46 PMID:24033266|PMID:25741868|PMID:28492532|PMID:32619401|PMID:32681648 12247309 DNAH8 dynein axonemal heavy chain 8 gene DOID:10283 prostate cancer ISO RGD:1348996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12247309 DNAH8 dynein axonemal heavy chain 8 gene DOID:303 substance-related disorder ISO RGD:1348996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12247309 DNAH8 dynein axonemal heavy chain 8 gene DOID:630 genetic disease ISO RGD:1348996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12247309 DNAH8 dynein axonemal heavy chain 8 gene DOID:9004890 Paranoid Disorders ISO RGD:1348996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 12247309 DNAH8 dynein axonemal heavy chain 8 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1348996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 12247309 DNAH8 dynein axonemal heavy chain 8 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1348996 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:24033266|PMID:24307375|PMID:25741868|PMID:28492532|PMID:31213628|PMID:32037394|PMID:32619401|PMID:32681648|PMID:9536098 12247405 KLKB1 kallikrein B1 gene DOID:0050589 inflammatory bowel disease ISO RGD:67382 D RGD:9068941 20200609 RGD PMID:8625762|REF_RGD_ID:7327139 12247405 KLKB1 kallikrein B1 gene DOID:0050664 Bietti crystalline corneoretinal dystrophy ISO RGD:736915 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy PMID:17962476 12247405 KLKB1 kallikrein B1 gene DOID:0060041 autism spectrum disorder ISO RGD:736915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25255310 12247405 KLKB1 kallikrein B1 gene DOID:0060903 thrombosis ISO RGD:736915 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25339356 12247405 KLKB1 kallikrein B1 gene DOID:0080162 lupus nephritis susceptibility ISO RGD:736915 D RGD:9068941 20200609 RGD DNA:SNPs:promoter: PMID:19307730|REF_RGD_ID:7327150 12247405 KLKB1 kallikrein B1 gene DOID:10763 hypertension ISO RGD:736915 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1; protein:increased expression:plasma: PMID:12716755|REF_RGD_ID:7327151 12247405 KLKB1 kallikrein B1 gene DOID:12849 autistic disorder ISO RGD:736915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12247405 KLKB1 kallikrein B1 gene DOID:2213 hemorrhagic disease ISO RGD:736915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 12247405 KLKB1 kallikrein B1 gene DOID:2229 factor XI deficiency ISO RGD:736915 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:32581362|PMID:34355501 12247405 KLKB1 kallikrein B1 gene DOID:2566 corneal dystrophy ISO RGD:736915 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Corneal Dystrophy, Recessive | ClinVar Annotator: match by term: Corneal dystrophy 12247405 KLKB1 kallikrein B1 gene DOID:2921 glomerulonephritis ISO RGD:736915 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:2173275|REF_RGD_ID:7327152 12247405 KLKB1 kallikrein B1 gene DOID:3410 carotid artery thrombosis ISO RGD:736915 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25339356 12247405 KLKB1 kallikrein B1 gene DOID:5082 liver cirrhosis ISO RGD:67382 D RGD:9068941 20200609 RGD PMID:14986822|REF_RGD_ID:7297050 12247405 KLKB1 kallikrein B1 gene DOID:630 genetic disease ISO RGD:736915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12247405 KLKB1 kallikrein B1 gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:736915 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1; protein:increased expression:plasma: PMID:12716755|REF_RGD_ID:7327151 12247405 KLKB1 kallikrein B1 gene DOID:9002457 Experimental Arthritis ISO RGD:67382 D RGD:9068941 20200609 RGD PMID:22739815|PMID:9783057|REF_RGD_ID:7297047|REF_RGD_ID:7327138 12247405 KLKB1 kallikrein B1 gene DOID:9002805 Enterocolitis ISO RGD:67382 D RGD:9068941 20200609 RGD PMID:9783057|REF_RGD_ID:7327138 12247405 KLKB1 kallikrein B1 gene DOID:9003851 Prekallikrein Deficiency IAGP D RGD:12801476 20210603 OMIA Prekallikrein deficiency PMID:1995570|PMID:20736516 12247405 KLKB1 kallikrein B1 gene DOID:9003851 Prekallikrein Deficiency ISO RGD:736915 D RGD:7240710 20180130 OMIM 12247405 KLKB1 kallikrein B1 gene DOID:9003851 Prekallikrein Deficiency ISO RGD:736915 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inherited prekallikrein deficiency | ClinVar Annotator: match by term: Prekallikrein deficiency PMID:12871337|PMID:14652634|PMID:15461630|PMID:17598838|PMID:19404525|PMID:25741868|PMID:28492532|PMID:32202057|PMID:33073460|PMID:33116287|PMID:34847617 12247405 KLKB1 kallikrein B1 gene DOID:9004484 Sepsis ISO RGD:67382 D RGD:9068941 20200609 RGD PMID:22352684|REF_RGD_ID:7297048 12247405 KLKB1 kallikrein B1 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:736915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 12247405 KLKB1 kallikrein B1 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:736915 D RGD:9068941 20200609 RGD DNA:SNPs:promoter: PMID:19307730|REF_RGD_ID:7327150 12247405 KLKB1 kallikrein B1 gene DOID:9477 pulmonary embolism ISO RGD:736915 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25339356 12247429 YIPF4 Yip1 domain family member 4 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1604267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914|PMID:25741868 12247429 YIPF4 Yip1 domain family member 4 gene DOID:607 paraplegia ISO RGD:1604267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 12247429 YIPF4 Yip1 domain family member 4 gene DOID:630 genetic disease ISO RGD:1604267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12247439 AP2A2 adaptor related protein complex 2 subunit alpha 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12247439 AP2A2 adaptor related protein complex 2 subunit alpha 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:735567 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12247439 AP2A2 adaptor related protein complex 2 subunit alpha 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:735567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12247439 AP2A2 adaptor related protein complex 2 subunit alpha 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12247439 AP2A2 adaptor related protein complex 2 subunit alpha 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12247439 AP2A2 adaptor related protein complex 2 subunit alpha 2 gene DOID:630 genetic disease ISO RGD:735567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12247439 AP2A2 adaptor related protein complex 2 subunit alpha 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:735567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12247464 MAP1A microtubule associated protein 1A gene DOID:1459 hypothyroidism ISO RGD:3042 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum PMID:3252178|REF_RGD_ID:2304042 12247464 MAP1A microtubule associated protein 1A gene DOID:2717 Bloom syndrome ISO RGD:736437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12247464 MAP1A microtubule associated protein 1A gene DOID:630 genetic disease ISO RGD:736437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12247464 MAP1A microtubule associated protein 1A gene DOID:9256 colorectal cancer ISO RGD:736437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12247475 COQ8A coenzyme Q8A gene DOID:0050730 coenzyme Q10 deficiency disease ISO RGD:1343862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type PMID:25741868|PMID:26467025|PMID:28492532 12247475 COQ8A coenzyme Q8A gene DOID:0050753 cerebellar ataxia ISO RGD:1343862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25558065 12247475 COQ8A coenzyme Q8A gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1343862 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:18414213|PMID:22036850|PMID:24164873|PMID:25741868|PMID:26467025|PMID:26640698|PMID:28492532|PMID:29482223|PMID:29915382|PMID:30548255|PMID:30968303|PMID:31621627|PMID:32337771|PMID:32637629 12247475 COQ8A coenzyme Q8A gene DOID:0070238 primary coenzyme Q10 deficiency 1 ISO RGD:1343862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1 PMID:24033266 12247475 COQ8A coenzyme Q8A gene DOID:0070241 primary coenzyme Q10 deficiency 4 ISO RGD:1343862 D RGD:7240710 20180130 OMIM 12247475 COQ8A coenzyme Q8A gene DOID:0070241 primary coenzyme Q10 deficiency 4 ISO RGD:1343862 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 9 PMID:12682339|PMID:15326254|PMID:16199547|PMID:17576681|PMID:18319072|PMID:18319074|PMID:18414213|PMID:19440741|PMID:20495179|PMID:20580948|PMID:21873089|PMID:22036850|PMID:24033266|PMID:24048965|PMID:24164873|PMID:24218524|PMID:25131622|PMID:25280894|PMID:25356970|PMID:25498144|PMID:25558065|PMID:25741868|PMID:26467025|PMID:26640698|PMID:26757139|PMID:27106809|PMID:27142713|PMID:27848944|PMID:28492532|PMID:29159460|PMID:29255295|PMID:29482223|PMID:29915382|PMID:30548255|PMID:30637285|PMID:30850373|PMID:30968303|PMID:31621627|PMID:31890231|PMID:32337771|PMID:32637629|PMID:32685350|PMID:32743982|PMID:32771712|PMID:32830305|PMID:32961396|PMID:33098801|PMID:33622667|PMID:34663476|PMID:9536098 12247475 COQ8A coenzyme Q8A gene DOID:0110986 Joubert Syndrome 17 ISO RGD:1343862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:18319074|PMID:24033266|PMID:25741868|PMID:28492532 12247475 COQ8A coenzyme Q8A gene DOID:1540 parathyroid carcinoma ISO RGD:1343862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12247475 COQ8A coenzyme Q8A gene DOID:630 genetic disease ISO RGD:1343862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25131622|PMID:25280894|PMID:25356970|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29255295|PMID:29915382|PMID:30637285|PMID:30850373|PMID:30968303|PMID:31621627|PMID:31890231|PMID:32337771|PMID:32685350|PMID:32771712|PMID:9536098 12247475 COQ8A coenzyme Q8A gene DOID:700 mitochondrial metabolism disease ISO RGD:1343862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25131622|PMID:25741868|PMID:28492532|PMID:32337771|PMID:32685350 12247475 COQ8A coenzyme Q8A gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1343862 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive PMID:18414213|PMID:22036850|PMID:24164873|PMID:25741868|PMID:26467025|PMID:26640698|PMID:28492532|PMID:29482223|PMID:29915382|PMID:30548255|PMID:30968303|PMID:31621627|PMID:32337771|PMID:32637629 12247475 COQ8A coenzyme Q8A gene DOID:9006534 Nervous System Malformations ISO RGD:1343862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:18319072|PMID:25741868|PMID:27142713|PMID:28492532|PMID:29915382 12247475 COQ8A coenzyme Q8A gene DOID:9008086 Developmental Disabilities ISO RGD:1343862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:18319074|PMID:20580948|PMID:24164873|PMID:28492532 12247475 COQ8A coenzyme Q8A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12247475 COQ8A coenzyme Q8A gene DOID:9650 pathologic nystagmus ISO RGD:1343862 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:25558065 12247494 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1343412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:18252223|PMID:19377476|PMID:25741868|PMID:28492532|PMID:29118367|PMID:29651030 12247494 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1343412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 12247494 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12247494 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0060811 syndromic X-linked intellectual disability Turner type ISO RGD:1343412 D RGD:7240710 20190515 OMIM 12247494 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0060811 syndromic X-linked intellectual disability Turner type ISO RGD:1343412 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HUWE1-related neurodevelopmental disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE | ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type PMID:16700052|PMID:18252223|PMID:19377476|PMID:25326635|PMID:25326637|PMID:25590979|PMID:25741868|PMID:25741869|PMID:25985138|PMID:27130160|PMID:27884935|PMID:28492532|PMID:29118367|PMID:29180823|PMID:29651030|PMID:30797980|PMID:6107045|PMID:7943042|PMID:7943044 12247494 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1343412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 12247494 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 ISO RGD:1343412 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Carpenter-Waziri syndrome PMID:25741868 12247494 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0112037 chromosome Xp11.22 duplication syndrome ISO RGD:1343412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HUWE1-Related Disorder 12247494 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:1343412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 PMID:26059843|PMID:28492532 12247494 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:10348 blepharophimosis ISO RGD:1343412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:25741868 12247494 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:1059 intellectual disability ISO RGD:1343412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 12247494 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:1059 intellectual disability ISO RGD:1343412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:29180823 12247494 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:12849 autistic disorder ISO RGD:1343412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12247494 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:1826 epilepsy ISO RGD:1343412 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12247494 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1343412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16700052|PMID:18414213|PMID:25644381|PMID:25741868|PMID:25741869|PMID:25985138|PMID:28492532|PMID:29180823|PMID:7708685|PMID:9153201 12247494 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12247494 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:9004603 Atkin Syndrome ISO RGD:1343412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome PMID:26059843|PMID:28492532 12247494 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:9006231 Say Meyer Syndrome ISO RGD:1343412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trigonocephaly, short stature, and retarded psychomotor development PMID:25741868|PMID:30797980 12247494 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1343412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741905|PMID:28492532 12247601 CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 gene DOID:0060648 anterior segment dysgenesis ISO RGD:1347044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:27839872|PMID:32499604 12247601 CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 gene DOID:0080613 anterior segment dysgenesis 8 ISO RGD:1347044 D RGD:7240710 20190315 OMIM 12247601 CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 gene DOID:0080613 anterior segment dysgenesis 8 ISO RGD:1347044 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 8 PMID:25741868|PMID:27839872|PMID:28492532|PMID:32499604 12247601 CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 gene DOID:3007 breast ductal carcinoma ISO RGD:1347044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12247601 CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 gene DOID:630 genetic disease ISO RGD:1347044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12247601 CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 gene DOID:9008296 Eye Abnormalities ISO RGD:1347044 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormal anterior eye segment morphology PMID:25741868 12247601 CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1347044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 12247654 MPND MPN domain containing gene DOID:0080600 COVID-19 ISO RGD:1605915 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12247654 MPND MPN domain containing gene DOID:13938 amenorrhea ISO RGD:1605915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12247654 MPND MPN domain containing gene DOID:630 genetic disease ISO RGD:1605915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12247672 OVCH2 ovochymase 2 gene DOID:630 genetic disease ISO RGD:1602408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12247690 SPSB4 splA/ryanodine receptor domain and SOCS box containing 4 gene DOID:630 genetic disease ISO RGD:1603370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12247690 SPSB4 splA/ryanodine receptor domain and SOCS box containing 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12247707 SUN5 Sad1 and UNC84 domain containing 5 gene DOID:0070184 spermatogenic failure 16 ISO RGD:1314928 D RGD:7240710 20190315 OMIM 12247707 SUN5 Sad1 and UNC84 domain containing 5 gene DOID:0070184 spermatogenic failure 16 ISO RGD:1314928 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 16 PMID:25741868|PMID:27640305|PMID:28492532|PMID:29331481 12247707 SUN5 Sad1 and UNC84 domain containing 5 gene DOID:630 genetic disease ISO RGD:1314928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12247734 ARF3 ADP ribosylation factor 3 gene DOID:1059 intellectual disability ISO RGD:1354397 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12247734 ARF3 ADP ribosylation factor 3 gene DOID:1682 congenital heart disease ISO RGD:1354397 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 12247734 ARF3 ADP ribosylation factor 3 gene DOID:1826 epilepsy ISO RGD:1354397 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12247734 ARF3 ADP ribosylation factor 3 gene DOID:543 dystonia ISO RGD:1354397 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868 12247734 ARF3 ADP ribosylation factor 3 gene DOID:9001510 Funnel Chest ISO RGD:1354397 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:25741868 12247750 UBE2QL1 ubiquitin conjugating enzyme E2 Q family like 1 gene DOID:630 genetic disease ISO RGD:2798685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12247756 MYH3 myosin heavy chain 3 gene DOID:0050646 distal arthrogryposis ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:25741868|PMID:28492532 12247756 MYH3 myosin heavy chain 3 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:731491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 12247756 MYH3 myosin heavy chain 3 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:731491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:28492532 12247756 MYH3 myosin heavy chain 3 gene DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A ISO RGD:731491 D RGD:7240710 20180130 OMIM 12247756 MYH3 myosin heavy chain 3 gene DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1A PMID:17576681|PMID:18414213|PMID:18470895|PMID:25741868|PMID:25957469|PMID:27381093|PMID:28492532|PMID:29314551|PMID:29805041|PMID:32902138|PMID:33726816|PMID:34204301|PMID:34440395|PMID:35169139|PMID:9536098 12247756 MYH3 myosin heavy chain 3 gene DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B ISO RGD:731491 D RGD:7240710 20190911 OMIM 12247756 MYH3 myosin heavy chain 3 gene DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B | ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1B PMID:17576681|PMID:18414213|PMID:25741868|PMID:25741870|PMID:28492532|PMID:29805041|PMID:32902138|PMID:33726816|PMID:34204301|PMID:34440395|PMID:35169139|PMID:9536098 12247756 MYH3 myosin heavy chain 3 gene DOID:0090116 spondylocarpotarsal synostosis syndrome ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:29805041|PMID:32902138|PMID:33726816|PMID:34204301|PMID:34440395|PMID:35169139|PMID:9536098 12247756 MYH3 myosin heavy chain 3 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:731491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:25741868 12247756 MYH3 myosin heavy chain 3 gene DOID:0111599 distal arthrogryposis type 2B ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities PMID:17576681|PMID:25741868|PMID:28492532|PMID:29805041|PMID:32902138|PMID:33726816|PMID:34204301|PMID:34440395|PMID:35169139|PMID:9536098 12247756 MYH3 myosin heavy chain 3 gene DOID:0111600 distal arthrogryposis type 2B1 ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 PMID:16642020|PMID:17576681|PMID:18414213|PMID:19142688|PMID:25741868|PMID:28492532|PMID:28779239|PMID:29805041|PMID:32902138|PMID:33726816|PMID:34204301|PMID:34440395|PMID:35169139|PMID:9536098 12247756 MYH3 myosin heavy chain 3 gene DOID:0111602 distal arthrogryposis type 2B3 ISO RGD:731491 D RGD:7240710 20190626 OMIM 12247756 MYH3 myosin heavy chain 3 gene DOID:0111602 distal arthrogryposis type 2B3 ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3 | ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3 (Sheldon-Hall) PMID:16642020|PMID:18414213|PMID:18695058|PMID:25256237|PMID:25741868|PMID:26578207|PMID:28492532|PMID:29625835|PMID:29805041|PMID:30826400|PMID:31030430 12247756 MYH3 myosin heavy chain 3 gene DOID:0111604 Freeman-Sheldon syndrome ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniocarpotarsal dysplasia | ClinVar Annotator: match by term: Freeman-Sheldon syndrome PMID:16642020|PMID:17576681|PMID:18414213|PMID:18695058|PMID:19142688|PMID:20924721|PMID:23265383|PMID:25256237|PMID:25740846|PMID:25741868|PMID:26945064|PMID:26996280|PMID:28492532|PMID:28584669|PMID:29805041|PMID:30379605|PMID:30826400|PMID:31030430|PMID:32732226|PMID:32902138|PMID:33726816|PMID:34204301|PMID:34440395|PMID:35169139|PMID:9536098 12247756 MYH3 myosin heavy chain 3 gene DOID:0111605 distal arthrogryposis type 2A ISO RGD:731491 D RGD:7240710 20200205 OMIM 12247756 MYH3 myosin heavy chain 3 gene DOID:0111605 distal arthrogryposis type 2A ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 2A (Freeman-Sheldon) PMID:16642020|PMID:17576681|PMID:18695058|PMID:25256237|PMID:25741868|PMID:28492532|PMID:29805041|PMID:30826400|PMID:32902138|PMID:33726816|PMID:34204301|PMID:34440395|PMID:35169139|PMID:9536098 12247756 MYH3 myosin heavy chain 3 gene DOID:10283 prostate cancer ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:25741868|PMID:28492532|PMID:31030430 12247756 MYH3 myosin heavy chain 3 gene DOID:1826 epilepsy ISO RGD:731491 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12247756 MYH3 myosin heavy chain 3 gene DOID:630 genetic disease ISO RGD:731491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16642020|PMID:18695058|PMID:23401156|PMID:25741868|PMID:25957469|PMID:27381093|PMID:28205584|PMID:28492532|PMID:291935|PMID:29805041|PMID:30008475 12247756 MYH3 myosin heavy chain 3 gene DOID:9000884 Rhabdomyolysis ISO RGD:731491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:16642020|PMID:25741868|PMID:28492532|PMID:28779239 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220224 RGD PMID:32359697|REF_RGD_ID:151361139 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220225 RGD PMID:24762957|REF_RGD_ID:151361157 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:23801167|REF_RGD_ID:151361213 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:0050872 large cell neuroendocrine carcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:18440724|REF_RGD_ID:151361285 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1354186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:27912058 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1354186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:0080202 adenoid cystic carcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:23516127|REF_RGD_ID:151361211 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:0080899 lung pleomorphic carcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:30300664|REF_RGD_ID:151361288 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1354186 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:10534 stomach cancer ISO RGD:1354186 D RGD:9068941 20220224 RGD protein:increased expression:stomach PMID:29367342|REF_RGD_ID:151361142 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:10534 stomach cancer severity ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:23809372|REF_RGD_ID:151361296 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:1107 esophageal carcinoma severity ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:15906366|REF_RGD_ID:151361282 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:11963 esophagitis ISO RGD:1354186 D RGD:9068941 20220303 RGD protein:increased expression:epithelium PMID:28370814|REF_RGD_ID:151361286 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:1996 rectum adenocarcinoma treatment ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:21036745|REF_RGD_ID:151361202 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:219 colon cancer treatment ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:19900191|REF_RGD_ID:151361295 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:2671 transitional cell carcinoma ISO RGD:620639 D RGD:9068941 20220224 RGD protein:increased expression:bladder PMID:28339760|REF_RGD_ID:151361118 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:3042 allergic contact dermatitis ISO RGD:1354186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:3068 glioblastoma disease_progression ISO RGD:1354186 D RGD:9068941 20220224 RGD PMID:16496379|REF_RGD_ID:151361115 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:3069 malignant astrocytoma disease_progression ISO RGD:1354186 D RGD:9068941 20220224 RGD PMID:16496379|REF_RGD_ID:151361115 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:3070 high grade glioma ameliorates ISO RGD:620639 D RGD:9068941 20220224 RGD PMID:16496379|REF_RGD_ID:151361115 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:3495 extrahepatic bile duct adenocarcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:24890221|REF_RGD_ID:151361210 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:3717 gastric adenocarcinoma ISO RGD:1354186 D RGD:9068941 20220303 RGD protein:increased expression:mucosa: PMID:21501294|REF_RGD_ID:151361203 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1354186 D RGD:9068941 20220224 RGD protein:increased expression:esophagus PMID:33609949|REF_RGD_ID:151361149 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:26936531|PMID:31726270|REF_RGD_ID:11532833|REF_RGD_ID:151361144 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:3907 lung squamous cell carcinoma ISO RGD:735716 D RGD:9068941 20220225 RGD PMID:19068093|REF_RGD_ID:151361158 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220225 RGD PMID:21187458|REF_RGD_ID:151361159 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:22110199|REF_RGD_ID:151361206 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220225 RGD PMID:19171406|PMID:26279756|REF_RGD_ID:151361150|REF_RGD_ID:151361151 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:4896 bile duct adenocarcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:24131658|REF_RGD_ID:151361287 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:4897 bile duct carcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:24890221|REF_RGD_ID:151361210 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:25475870|REF_RGD_ID:151361214 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:4947 cholangiocarcinoma treatment ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:24131658|PMID:28347255|REF_RGD_ID:151361287|REF_RGD_ID:151361294 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:630 genetic disease ISO RGD:1354186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:684 hepatocellular carcinoma ISO RGD:620639 D RGD:9068941 20220303 RGD mRNA:increased expression:liver PMID:7532544|REF_RGD_ID:634202 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1354186 D RGD:9068941 20220224 RGD PMID:26389641|REF_RGD_ID:151361140 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:23696029|PMID:26389641|REF_RGD_ID:151361140|REF_RGD_ID:151361280 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:7474 malignant pleural mesothelioma ISO RGD:1354186 D RGD:9068941 20220303 RGD protein:increased expression:pleura PMID:24912849|REF_RGD_ID:151660330 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:22199264|REF_RGD_ID:151361201 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620639 D RGD:9068941 20220225 RGD protein:increased expression:spinal cord PMID:19388351|REF_RGD_ID:151361131 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1354186 D RGD:9068941 20220303 RGD associated with gastric adenocarcinoma;protein:increased expression: : PMID:21501294|REF_RGD_ID:151361203 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:9000081 Lymphatic Metastasis severity ISO RGD:1354186 D RGD:9068941 20220303 RGD associated with stomach carcinoma PMID:25908107|REF_RGD_ID:11052781 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:9000918 Disease Progression disease_progression ISO RGD:1354186 D RGD:9068941 20220224 RGD associated with Colorectal Neoplasms PMID:32359697|REF_RGD_ID:151361139 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:19018776|REF_RGD_ID:151361278 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:620639 D RGD:9068941 20220224 RGD mRNA:increased expression:liver PMID:17498859|REF_RGD_ID:151357003 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1354186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to PMID:24530203|PMID:26913920|PMID:28492532 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1354186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:9005172 Lung Neoplasms ISO RGD:1354186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26621329 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:9005930 Endotoxemia ISO RGD:620639 D RGD:9068941 20220224 RGD PMID:26337286|REF_RGD_ID:151361133 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:620639 D RGD:9068941 20220224 RGD mRNA:increased expression:right and left ventricles PMID:23794090|REF_RGD_ID:151361111 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:9006618 Liver Metastasis severity ISO RGD:620639 D RGD:9068941 20220224 RGD associated with colon adenocarcinoma PMID:11745822|REF_RGD_ID:151361130 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:9006618 Liver Metastasis severity ISO RGD:620639 D RGD:9068941 20220224 RGD associated with colon cancer PMID:11718450|REF_RGD_ID:151361129 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:620639 D RGD:9068941 20220224 RGD PMID:9200186|REF_RGD_ID:151357001 12247807 SLC7A5 solute carrier family 7 member 5 gene DOID:9256 colorectal cancer severity ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:29344181|REF_RGD_ID:151361284 12247821 NOVA1 NOVA alternative splicing regulator 1 gene DOID:630 genetic disease ISO RGD:1346053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12247821 NOVA1 NOVA alternative splicing regulator 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1346053 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12247840 TTC9 tetratricopeptide repeat domain 9 gene DOID:2559 opiate dependence ISO RGD:1318967 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 12247840 TTC9 tetratricopeptide repeat domain 9 gene DOID:630 genetic disease ISO RGD:1318967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12247847 IL17REL interleukin 17 receptor E like gene DOID:0060041 autism spectrum disorder ISO RGD:1605488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12247847 IL17REL interleukin 17 receptor E like gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1605488 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12247847 IL17REL interleukin 17 receptor E like gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1605488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12247847 IL17REL interleukin 17 receptor E like gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1605488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12247847 IL17REL interleukin 17 receptor E like gene DOID:10581 metachromatic leukodystrophy ISO RGD:1605488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12247847 IL17REL interleukin 17 receptor E like gene DOID:1059 intellectual disability ISO RGD:1605488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12247847 IL17REL interleukin 17 receptor E like gene DOID:630 genetic disease ISO RGD:1605488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12247847 IL17REL interleukin 17 receptor E like gene DOID:8577 ulcerative colitis ISO RGD:1605488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228798 12247875 DIS3L2 DIS3 like 3'-5' exoribonuclease 2 gene DOID:0060476 Perlman syndrome ISO RGD:1604754 D RGD:7240710 20180130 OMIM 12247875 DIS3L2 DIS3 like 3'-5' exoribonuclease 2 gene DOID:0060476 Perlman syndrome ISO RGD:1604754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:10508986|PMID:16199547|PMID:16957732|PMID:17576681|PMID:22306653|PMID:23486540|PMID:23576526|PMID:23594738|PMID:23613427|PMID:23756462|PMID:24141620|PMID:25640679|PMID:25670083|PMID:25741868|PMID:25741875|PMID:26689913|PMID:27153395|PMID:27431325|PMID:28328139|PMID:28492532|PMID:29625052|PMID:30344923|PMID:30359267|PMID:31350202|PMID:31942411|PMID:33332384|PMID:33719213|PMID:34130653|PMID:6093533|PMID:9536098 12247875 DIS3L2 DIS3 like 3'-5' exoribonuclease 2 gene DOID:0080006 bone development disease ISO RGD:1604754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 12247875 DIS3L2 DIS3 like 3'-5' exoribonuclease 2 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1604754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12247875 DIS3L2 DIS3 like 3'-5' exoribonuclease 2 gene DOID:2154 nephroblastoma ISO RGD:1604754 D RGD:9068941 20200609 RGD DNA:missense mutations, deletions:multiple (human) PMID:22306653|REF_RGD_ID:11558020 12247875 DIS3L2 DIS3 like 3'-5' exoribonuclease 2 gene DOID:630 genetic disease ISO RGD:1604754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25670083|PMID:25741868|PMID:28492532|PMID:30344923|PMID:30359267 12247875 DIS3L2 DIS3 like 3'-5' exoribonuclease 2 gene DOID:687 hepatoblastoma ISO RGD:1604754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 12247875 DIS3L2 DIS3 like 3'-5' exoribonuclease 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604754 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12247913 CRYGN crystallin gamma N gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1318382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 12247913 CRYGN crystallin gamma N gene DOID:2843 long QT syndrome ISO RGD:1318382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 12247913 CRYGN crystallin gamma N gene DOID:630 genetic disease ISO RGD:1318382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12247935 CBLN4 cerebellin 4 precursor gene DOID:630 genetic disease ISO RGD:1346675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12247943 TICAM2 toll like receptor adaptor molecule 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1317929 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12247943 TICAM2 toll like receptor adaptor molecule 2 gene DOID:0080599 Coronavirus infectious disease ISO RGD:1550939 D RGD:9068941 20220825 MouseDO 12247943 TICAM2 toll like receptor adaptor molecule 2 gene DOID:12849 autistic disorder ISO RGD:1317929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12247943 TICAM2 toll like receptor adaptor molecule 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1317929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26861016 12247943 TICAM2 toll like receptor adaptor molecule 2 gene DOID:9000998 Brain Injuries ISO RGD:1317929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 12247943 TICAM2 toll like receptor adaptor molecule 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12247943 TICAM2 toll like receptor adaptor molecule 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317929 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12247950 CCDC188 coiled-coil domain containing 188 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:10400964 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12247950 CCDC188 coiled-coil domain containing 188 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:10400964 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12247950 CCDC188 coiled-coil domain containing 188 gene DOID:11198 DiGeorge syndrome ISO RGD:10400964 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome 12247950 CCDC188 coiled-coil domain containing 188 gene DOID:12583 velocardiofacial syndrome ISO RGD:10400964 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12247950 CCDC188 coiled-coil domain containing 188 gene DOID:12849 autistic disorder ISO RGD:10400964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12247950 CCDC188 coiled-coil domain containing 188 gene DOID:5419 schizophrenia ISO RGD:10400964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12247950 CCDC188 coiled-coil domain containing 188 gene DOID:9007661 Dwarfism ISO RGD:10400964 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12247974 ARHGAP21 Rho GTPase activating protein 21 gene DOID:630 genetic disease ISO RGD:1322263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248027 TMEM253 transmembrane protein 253 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1626192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12248027 TMEM253 transmembrane protein 253 gene DOID:630 genetic disease ISO RGD:1626192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248027 TMEM253 transmembrane protein 253 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1626192 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12248045 LOC100855618 bone morphogenetic protein 8B gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1353706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12248045 LOC100855618 bone morphogenetic protein 8B gene DOID:630 genetic disease ISO RGD:1353706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248133 C21H11orf97 chromosome 21 C11orf97 homolog gene DOID:630 genetic disease ISO RGD:7821812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248141 IPP intracisternal A particle-promoted polypeptide gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12248141 IPP intracisternal A particle-promoted polypeptide gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1314841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12248141 IPP intracisternal A particle-promoted polypeptide gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12248141 IPP intracisternal A particle-promoted polypeptide gene DOID:13938 amenorrhea ISO RGD:1314841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12248141 IPP intracisternal A particle-promoted polypeptide gene DOID:630 genetic disease ISO RGD:1314841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248141 IPP intracisternal A particle-promoted polypeptide gene DOID:9008443 Colorectal Neoplasms ISO RGD:1314841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 12248166 PGS1 phosphatidylglycerophosphate synthase 1 gene DOID:630 genetic disease ISO RGD:1606322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248166 PGS1 phosphatidylglycerophosphate synthase 1 gene DOID:9002189 High Myopia ISO RGD:1606322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12248204 GTF2A2 general transcription factor IIA subunit 2 gene DOID:2717 Bloom syndrome ISO RGD:737167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12248204 GTF2A2 general transcription factor IIA subunit 2 gene DOID:630 genetic disease ISO RGD:737167 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248204 GTF2A2 general transcription factor IIA subunit 2 gene DOID:9256 colorectal cancer ISO RGD:737167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12248220 KAT8 lysine acetyltransferase 8 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1323009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12248220 KAT8 lysine acetyltransferase 8 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1323009 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27768893 12248220 KAT8 lysine acetyltransferase 8 gene DOID:1612 breast cancer severity ISO RGD:1323009 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:22199269|REF_RGD_ID:9586031 12248220 KAT8 lysine acetyltransferase 8 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1323009 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney (human) PMID:23394073|REF_RGD_ID:9586034 12248220 KAT8 lysine acetyltransferase 8 gene DOID:6000 congestive heart failure ISO RGD:1323009 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27768893 12248220 KAT8 lysine acetyltransferase 8 gene DOID:630 genetic disease ISO RGD:1323009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:31794431 12248220 KAT8 lysine acetyltransferase 8 gene DOID:9000897 LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME ISO RGD:1323009 D RGD:7240710 20201216 OMIM 12248220 KAT8 lysine acetyltransferase 8 gene DOID:9000897 LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME ISO RGD:1323009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Li-Ghorbani-Weisz-Hubshman syndrome PMID:25741868|PMID:31794431 12248220 KAT8 lysine acetyltransferase 8 gene DOID:9003936 Cardiomegaly ISO RGD:1323010 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart (mouse) PMID:24802406|REF_RGD_ID:9586036 12248220 KAT8 lysine acetyltransferase 8 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1323009 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:24802406|REF_RGD_ID:9586036 12248238 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1343590 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12248238 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:0050476 Barth syndrome ISO RGD:1343590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12248238 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:0050800 creatine transporter deficiency ISO RGD:1343590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12248238 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:0060292 X-linked chondrodysplasia punctata 1 ISO RGD:1550149 D RGD:9068941 20220825 MouseDO OMIM:302950 | OMIM:302960 12248238 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12248238 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:0111822 CHILD syndrome IAGP D RGD:12801476 20220629 OMIA Verrucous epidermal keratinocytic nevi PMID:34644958|PMID:18477327|PMID:28739597|PMID:31012178|PMID:31571289|PMID:33143176|PMID:34796560 12248238 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:0111822 CHILD syndrome ISO RGD:1343590 D RGD:7240710 20180130 OMIM 12248238 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:0111822 CHILD syndrome ISO RGD:1343590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Child syndrome PMID:10710235|PMID:11907515|PMID:12966526|PMID:14527740|PMID:15689440|PMID:18414213|PMID:18825599|PMID:19906044|PMID:21290788|PMID:25093865|PMID:25741868|PMID:26459993|PMID:28492532 12248238 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:0111898 CK syndrome ISO RGD:1343590 D RGD:7240710 20180130 OMIM 12248238 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:0111898 CK syndrome ISO RGD:1343590 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CK syndrome PMID:18414213|PMID:19377476|PMID:21129721|PMID:21290788|PMID:25741868|PMID:28492532 12248238 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:10588 adrenoleukodystrophy ISO RGD:1343590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12248238 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:1059 intellectual disability ISO RGD:1343590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12248238 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12248238 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:12305 Bloch-Sulzberger syndrome ISO RGD:1550149 D RGD:9068941 20220825 MouseDO OMIM:308300 12248238 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:12849 autistic disorder ISO RGD:1343590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12248238 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:13628 favism ISO RGD:1343590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12248238 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:1826 epilepsy ISO RGD:1343590 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12248238 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:2729 dyskeratosis congenita ISO RGD:1343590 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12248238 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1343590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23125191 12248238 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:607 paraplegia ISO RGD:1343590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12248238 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:630 genetic disease ISO RGD:1343590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12248238 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:65 connective tissue disease ISO RGD:1343590 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:18414213|PMID:25741868|PMID:28492532 12248238 NSDHL NAD(P) dependent steroid dehydrogenase-like gene DOID:9004538 Hearing Loss ISO RGD:1343590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868 12248259 CILP cartilage intermediate layer protein gene DOID:0110935 nemaline myopathy 6 ISO RGD:1312971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12248259 CILP cartilage intermediate layer protein gene DOID:2717 Bloom syndrome ISO RGD:1312971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12248259 CILP cartilage intermediate layer protein gene DOID:630 genetic disease ISO RGD:1312971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248259 CILP cartilage intermediate layer protein gene DOID:8398 osteoarthritis disease_progression ISO RGD:1312971 D RGD:9068941 20200609 RGD PMID:15334463|REF_RGD_ID:1625347 12248259 CILP cartilage intermediate layer protein gene DOID:9000585 Intervertebral Disc Disease ISO RGD:1312971 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 12248259 CILP cartilage intermediate layer protein gene DOID:9000585 Intervertebral Disc Disease susceptibility ISO RGD:1312971 D RGD:7240710 20230505 OMIM 12248259 CILP cartilage intermediate layer protein gene DOID:9256 colorectal cancer ISO RGD:1312971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:0050581 brachydactyly ISO RGD:737570 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:10364520|PMID:10787449|PMID:10879615|PMID:11464248|PMID:11938447|PMID:11977178|PMID:14612366|PMID:15643295|PMID:15942916|PMID:16785446|PMID:16889173|PMID:18353061|PMID:19790133|PMID:20008920|PMID:20828792|PMID:21290976|PMID:21600797|PMID:22037353|PMID:23164758|PMID:23334425|PMID:23907647|PMID:24318677|PMID:24369413|PMID:25741868|PMID:27030597|PMID:28492532|PMID:30171907|PMID:33223529|PMID:9288094|PMID:9288758|PMID:9781020 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:0050908 myelodysplastic syndrome susceptibility ISO RGD:737570 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.M694V,E148Q(human) PMID:22351163|REF_RGD_ID:11531114 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:0080746 Sweet syndrome ISO RGD:737570 D RGD:7240710 20200701 OMIM 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:0080746 Sweet syndrome ISO RGD:737570 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acute febrile neutrophilic dermatosis PMID:10024914|PMID:10090880|PMID:10364520|PMID:10447272|PMID:10612841|PMID:10737995|PMID:10787449|PMID:10842288|PMID:10879615|PMID:10905662|PMID:11017802|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12105243|PMID:12124996|PMID:12401847|PMID:12687559|PMID:12908875|PMID:14578331|PMID:14578333|PMID:14612366|PMID:14679589|PMID:14727057|PMID:14985395|PMID:15024744|PMID:15300846|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16889173|PMID:17331080|PMID:17489852|PMID:17576681|PMID:17665427|PMID:17665448|PMID:18353061|PMID:18409191|PMID:18609258|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19193696|PMID:19302049|PMID:19531756|PMID:19729025|PMID:19786432|PMID:19790133|PMID:19863562|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20041150|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20645115|PMID:20669279|PMID:20721559|PMID:20828792|PMID:21228398|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21600797|PMID:21623663|PMID:21727933|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22281876|PMID:22451026|PMID:22505824|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22934972|PMID:23010357|PMID:23031807|PMID:23164758|PMID:23280696|PMID:23325590|PMID:23334425|PMID:23463692|PMID:23505242|PMID:23588594|PMID:23633568|PMID:23862117|PMID:23907647|PMID:23973724|PMID:24117178|PMID:24233262|PMID:24301775|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24469716|PMID:24630722|PMID:24702757|PMID:24760114|PMID:24797171|PMID:24929125|PMID:25006247|PMID:25036384|PMID:25332561|PMID:25393764|PMID:25626331|PMID:25703702|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25821352|PMID:25974247|PMID:26003477|PMID:26028444|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26360812|PMID:26399837|PMID:26467025|PMID:26510601|PMID:26574972|PMID:26585190|PMID:27030597|PMID:27473114|PMID:27513391|PMID:27872624|PMID:28211254|PMID:28289585|PMID:28340799|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28597968|PMID:28814775|PMID:28835462|PMID:28943464|PMID:29047407|PMID:29148036|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29579081|PMID:29599418|PMID:29735907|PMID:30171907|PMID:30355575|PMID:30476289|PMID:30546872|PMID:30887796|PMID:31088470|PMID:31329540|PMID:31411330|PMID:31512232|PMID:31589380|PMID:31646357|PMID:31803701|PMID:31989427|PMID:31998953|PMID:32199921|PMID:32359823|PMID:32441320|PMID:32447396|PMID:32909274|PMID:33223529|PMID:33733382|PMID:33738724|PMID:33747591|PMID:33813620|PMID:34426522|PMID:35098403|PMID:9288094|PMID:9288758|PMID:9336425|PMID:9536098|PMID:9668175|PMID:9781020 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:737570 D RGD:9068941 20200609 RGD DNA:mutation:exon:p. E148Q (human) PMID:20602240|REF_RGD_ID:7349347 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:737570 D RGD:9068941 20200609 RGD DNA:mutations:exons: PMID:22451026|REF_RGD_ID:7349346 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:11123 Henoch-Schoenlein purpura susceptibility ISO RGD:737570 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:25232290|REF_RGD_ID:11531116 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:11383 cryptorchidism ISO RGD:737570 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cryptorchidism PMID:10364520|PMID:10787449|PMID:10879615|PMID:11464248|PMID:11938447|PMID:11977178|PMID:14612366|PMID:15643295|PMID:15942916|PMID:16498449|PMID:16785446|PMID:16889173|PMID:18353061|PMID:19790133|PMID:20008920|PMID:20041150|PMID:20828792|PMID:21290976|PMID:21600797|PMID:22037353|PMID:22337722|PMID:22903357|PMID:23010357|PMID:23070486|PMID:23164758|PMID:23325590|PMID:23334425|PMID:23867542|PMID:23907647|PMID:24117178|PMID:24318677|PMID:24369413|PMID:25203624|PMID:25741868|PMID:26247045|PMID:26554556|PMID:26620106|PMID:27030597|PMID:27838405|PMID:28421071|PMID:28492532|PMID:29178647|PMID:29260407|PMID:29599418|PMID:29927949|PMID:30171907|PMID:31411330|PMID:33223529|PMID:9288094|PMID:9288758|PMID:9781020 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:13241 Behcet's disease ISO RGD:737570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Behcet disease PMID:25741868|PMID:28492532|PMID:28814775|PMID:31411330 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:1682 congenital heart disease ISO RGD:737570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:10090880|PMID:10611954|PMID:10612841|PMID:10787450|PMID:10842288|PMID:11464238|PMID:11977178|PMID:15018633|PMID:15024744|PMID:16730661|PMID:17489852|PMID:19253030|PMID:19934083|PMID:20041150|PMID:20534143|PMID:21153919|PMID:21246368|PMID:21413889|PMID:21978701|PMID:22207183|PMID:22614345|PMID:22903357|PMID:23505242|PMID:23588594|PMID:23907647|PMID:23981758|PMID:24033266|PMID:24251727|PMID:24469716|PMID:24929125|PMID:25615955|PMID:25741868|PMID:26003477|PMID:26078663|PMID:27364639|PMID:27733942|PMID:28483595|PMID:28492532|PMID:29047407|PMID:29543225|PMID:29599418|PMID:31989427|PMID:32312770|PMID:33733382|PMID:34426522|PMID:35098403|PMID:9668175 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:1826 epilepsy ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:1827 idiopathic generalized epilepsy ISO RGD:737570 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:2280 hidradenitis suppurativa ISO RGD:737570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:2841 asthma susceptibility ISO RGD:737570 D RGD:9068941 20200609 RGD DNA:mutations:exons PMID:18219832|REF_RGD_ID:5129186 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:2935 Chediak-Higashi syndrome ISO RGD:737570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10611954|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10852276|PMID:10854105|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11175300|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11470495|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12064853|PMID:12105243|PMID:12124996|PMID:12180071|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14578333|PMID:14612366|PMID:14679589|PMID:14727057|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15168590|PMID:15458961|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15720244|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16439437|PMID:16498449|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16802374|PMID:16889173|PMID:17276496|PMID:17329916|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17665427|PMID:18097735|PMID:18307385|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19253030|PMID:19449169|PMID:19466506|PMID:19531756|PMID:19762364|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19845843|PMID:19863562|PMID:19877056|PMID:19929404|PMID:19934082|PMID:19934083|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20044784|PMID:20051664|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20525738|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20688806|PMID:20721559|PMID:20828792|PMID:20890251|PMID:20981092|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21562927|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22207183|PMID:22261745|PMID:22337722|PMID:22451026|PMID:22467954|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22906030|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23006543|PMID:23010357|PMID:23031807|PMID:23038988|PMID:23070486|PMID:23137073|PMID:23155201|PMID:23164758|PMID:23166428|PMID:23206577|PMID:23217869|PMID:23291246|PMID:23302539|PMID:23325590|PMID:23334425|PMID:23400211|PMID:23437051|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23524442|PMID:23588594|PMID:23592051|PMID:23716950|PMID:23800337|PMID:23844200|PMID:23847694|PMID:23867542|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24033266|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24233262|PMID:24251727|PMID:24261781|PMID:24263150|PMID:24289199|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24383976|PMID:24433404|PMID:24469716|PMID:24702757|PMID:24797171|PMID:24862656|PMID:24929125|PMID:24965843|PMID:25006247|PMID:25073670|PMID:25088882|PMID:25203624|PMID:25261100|PMID:25286988|PMID:25393764|PMID:25615955|PMID:25626331|PMID:25648235|PMID:25671271|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25821352|PMID:25866490|PMID:25959027|PMID:25974247|PMID:26003477|PMID:26027984|PMID:26028444|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26413094|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26554556|PMID:26585190|PMID:26620106|PMID:26690517|PMID:26722138|PMID:26759267|PMID:26843738|PMID:26933204|PMID:27030597|PMID:27100444|PMID:27333294|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27535533|PMID:27621632|PMID:27659338|PMID:27733942|PMID:27838405|PMID:27884173|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28302131|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28597968|PMID:28750028|PMID:28863210 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:2935 Chediak-Higashi syndrome ISO RGD:737570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:28927886|PMID:28943464|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29363386|PMID:29379228|PMID:29526930|PMID:29543225|PMID:29599418|PMID:29735907|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30235678|PMID:30355575|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30546872|PMID:30783801|PMID:30915208|PMID:30996171|PMID:31088470|PMID:31204589|PMID:31264586|PMID:31411330|PMID:31531243|PMID:31620089|PMID:31646357|PMID:31989427|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32401353|PMID:32461654|PMID:32741030|PMID:32853466|PMID:32909274|PMID:33223529|PMID:33331265|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:34426522|PMID:35098403|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9527614|PMID:9668175|PMID:9781020 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:2935 Chediak-Higashi syndrome ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10611954|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10852276|PMID:10854105|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11175300|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11470495|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12064853|PMID:12105243|PMID:12124996|PMID:12180071|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14578333|PMID:14612366|PMID:14679589|PMID:14727057|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15168590|PMID:15458961|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15720244|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16439437|PMID:16498449|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16802374|PMID:16889173|PMID:17276496|PMID:17329916|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17665427|PMID:17665448|PMID:18097735|PMID:18307385|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19253030|PMID:19302049|PMID:19449169|PMID:19466506|PMID:19531756|PMID:19762364|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19845843|PMID:19863562|PMID:19877056|PMID:19929404|PMID:19934082|PMID:19934083|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20044784|PMID:20051664|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20525738|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20688806|PMID:20721559|PMID:20828792|PMID:20890251|PMID:20981092|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21562927|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22207183|PMID:22261745|PMID:22337722|PMID:22451026|PMID:22467954|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22906030|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23006543|PMID:23010357|PMID:23031807|PMID:23038988|PMID:23070486|PMID:23137073|PMID:23155201|PMID:23164758|PMID:23166428|PMID:23206577|PMID:23217869|PMID:23291246|PMID:23302539|PMID:23325590|PMID:23334425|PMID:23400211|PMID:23437051|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23524442|PMID:23588594|PMID:23592051|PMID:23716950|PMID:23800337|PMID:23844200|PMID:23847694|PMID:23867542|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24033266|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24233262|PMID:24251727|PMID:24261781|PMID:24263150|PMID:24289199|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24383976|PMID:24433404|PMID:24469716|PMID:24702757|PMID:24797171|PMID:24862656|PMID:24929125|PMID:24965843|PMID:25006247|PMID:25073670|PMID:25088882|PMID:25203624|PMID:25261100|PMID:25286988|PMID:25393764|PMID:25615955|PMID:25626331|PMID:25648235|PMID:25671271|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25821352|PMID:25866490|PMID:25959027|PMID:25974247|PMID:26003477|PMID:26027984|PMID:26028444|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26399837|PMID:26413094|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26554556|PMID:26585190|PMID:26620106|PMID:26690517|PMID:26722138|PMID:26759267|PMID:26843738|PMID:26933204|PMID:27030597|PMID:27100444|PMID:27333294|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27535533|PMID:27621632|PMID:27659338|PMID:27733942|PMID:27838405|PMID:27884173|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28302131|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:2935 Chediak-Higashi syndrome ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:28597968|PMID:28750028|PMID:28863210|PMID:28927886|PMID:28943464|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29363386|PMID:29379228|PMID:29526930|PMID:29543225|PMID:29599418|PMID:29735907|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30235678|PMID:30355575|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30546872|PMID:30783801|PMID:30915208|PMID:30996171|PMID:31088470|PMID:31204589|PMID:31264586|PMID:31411330|PMID:31512232|PMID:31531243|PMID:31620089|PMID:31646357|PMID:31989427|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32401353|PMID:32447396|PMID:32461654|PMID:32741030|PMID:32853466|PMID:32909274|PMID:33223529|PMID:33331265|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:34426522|PMID:35098403|PMID:35490273|PMID:35780723|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9527614|PMID:9668175|PMID:9781020 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:2987 familial Mediterranean fever ISO RGD:737570 D RGD:7240710 20180130 OMIM 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:2987 familial Mediterranean fever ISO RGD:737570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial Mediterranean fever | ClinVar Annotator: match by term: Periodic disease PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10611954|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10852276|PMID:10854105|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11139259|PMID:11175300|PMID:11242116|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11470495|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12064853|PMID:12105243|PMID:12124996|PMID:12180071|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14578333|PMID:14612366|PMID:14636645|PMID:14679589|PMID:14727057|PMID:14985395|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15168590|PMID:15300846|PMID:15458961|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15720244|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16199547|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16439437|PMID:16498449|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16802374|PMID:16889173|PMID:17276496|PMID:17329916|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17576681|PMID:17594097|PMID:17665427|PMID:17938136|PMID:18097735|PMID:18307385|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19193696|PMID:19253030|PMID:19262573|PMID:19302049|PMID:19449169|PMID:19466506|PMID:19479870|PMID:19531756|PMID:19729025|PMID:19762364|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19845843|PMID:19863562|PMID:19877056|PMID:19929404|PMID:19934082|PMID:19934083|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20044784|PMID:20051664|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20525738|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20688806|PMID:20721559|PMID:20828792|PMID:20890251|PMID:20981092|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21562927|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22207183|PMID:22261745|PMID:22281876|PMID:22337722|PMID:22451026|PMID:22467954|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22906030|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23006543|PMID:23010357|PMID:23031807|PMID:23038988|PMID:23070486|PMID:23137073|PMID:23155201|PMID:23164758|PMID:23166428|PMID:23206577|PMID:23217869|PMID:23280696|PMID:23291246|PMID:23302539|PMID:23325590|PMID:23334425|PMID:23400211|PMID:23437051|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23524442|PMID:23588594|PMID:23592051|PMID:23633568|PMID:23716950|PMID:23800337|PMID:23844200|PMID:23847694|PMID:23862117|PMID:23867542|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24033266|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24158885|PMID:24233262|PMID:24251727|PMID:24261781|PMID:24263150|PMID:24289199|PMID:24301775|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24383976|PMID:24433404|PMID:24469716|PMID:24630722|PMID:24702757|PMID:24718488|PMID:24760114|PMID:24797171|PMID:24862656|PMID:24929125|PMID:24950168|PMID:24965843|PMID:25006247|PMID:25036384|PMID:25073670|PMID:25088882|PMID:25203624|PMID:25261100|PMID:25286988|PMID:25332561|PMID:25393764|PMID:25615955|PMID:25626331|PMID:25648235|PMID:25671271|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25821352|PMID:25866490|PMID:25959027|PMID:25974247|PMID:26003477|PMID:26027984|PMID:26028444|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26413094|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26554556|PMID:26574972|PMID:26585190|PMID:26620106|PMID:26690517|PMID:26722138|PMID:26759267|PMID:26843738 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:2987 familial Mediterranean fever ISO RGD:737570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial Mediterranean fever | ClinVar Annotator: match by term: Periodic disease PMID:26933204|PMID:2703059|PMID:27030597|PMID:27100444|PMID:27310525|PMID:27332769|PMID:27333294|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27535533|PMID:27621632|PMID:27659338|PMID:27733942|PMID:27838405|PMID:27872624|PMID:27884173|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28289585|PMID:28302131|PMID:28340799|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28597968|PMID:28750028|PMID:28814775|PMID:28863210|PMID:28927886|PMID:28943464|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29151129|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29363386|PMID:29379228|PMID:29526930|PMID:29543225|PMID:29579081|PMID:29599418|PMID:29735907|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30235678|PMID:30355575|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30546872|PMID:30783801|PMID:30887796|PMID:30915208|PMID:30996171|PMID:31088470|PMID:31204589|PMID:31264586|PMID:31329540|PMID:31411330|PMID:31531243|PMID:31589380|PMID:31620089|PMID:31646357|PMID:31989427|PMID:31998953|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32359823|PMID:32401353|PMID:32441320|PMID:32461654|PMID:32741030|PMID:32853466|PMID:32909274|PMID:33223529|PMID:33331265|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:33813620|PMID:34426522|PMID:35098403|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9336425|PMID:9527614|PMID:9536098|PMID:9668175|PMID:9781020 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:2987 familial Mediterranean fever ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial Mediterranean fever PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10611954|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10852276|PMID:10854105|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11139259|PMID:11175300|PMID:11242116|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11470495|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12064853|PMID:12105243|PMID:12124996|PMID:12180071|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14578333|PMID:14612366|PMID:14636645|PMID:14679589|PMID:14727057|PMID:14985395|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15168590|PMID:15300846|PMID:15458961|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15720244|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16199547|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16439437|PMID:16498449|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16802374|PMID:16889173|PMID:17276496|PMID:17329916|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17576681|PMID:17594097|PMID:17665427|PMID:17665448|PMID:17938136|PMID:18097735|PMID:18307385|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19193696|PMID:19253030|PMID:19262573|PMID:19302049|PMID:19449169|PMID:19466506|PMID:19479870|PMID:19531756|PMID:19729025|PMID:19762364|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19845843|PMID:19863562|PMID:19877056|PMID:19929404|PMID:19934082|PMID:19934083|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20044784|PMID:20051664|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20525738|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20688806|PMID:20721559|PMID:20828792|PMID:20890251|PMID:20981092|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21562927|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22207183|PMID:22261745|PMID:22281876|PMID:22337722|PMID:22451026|PMID:22467954|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22906030|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23006543|PMID:23010357|PMID:23031807|PMID:23038988|PMID:23070486|PMID:23137073|PMID:23155201|PMID:23164758|PMID:23166428|PMID:23206577|PMID:23217869|PMID:23280696|PMID:23291246|PMID:23302539|PMID:23325590|PMID:23334425|PMID:23400211|PMID:23437051|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23524442|PMID:23588594|PMID:23592051|PMID:23633568|PMID:23716950|PMID:23800337|PMID:23844200|PMID:23847694|PMID:23862117|PMID:23867542|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24033266|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24158885|PMID:24233262|PMID:24251727|PMID:24261781|PMID:24263150|PMID:24289199|PMID:24301775|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24383976|PMID:24433404|PMID:24469716|PMID:24630722|PMID:24702757|PMID:24718488|PMID:24760114|PMID:24797171|PMID:24862656|PMID:24929125|PMID:24950168|PMID:24965843|PMID:25006247|PMID:25036384|PMID:25073670|PMID:25088882|PMID:25203624|PMID:25261100|PMID:25286988|PMID:25332561|PMID:25393764|PMID:25615955|PMID:25626331|PMID:25648235|PMID:25671271|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25821352|PMID:25866490|PMID:25959027|PMID:25974247|PMID:26003477|PMID:26027984|PMID:26028444|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26399837|PMID:26413094|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26554556|PMID:26574972|PMID:26585190|PMID:26620106|PMID:26690517|PMID:26722138 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:2987 familial Mediterranean fever ISO RGD:737570 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial Mediterranean fever PMID:26759267|PMID:26843738|PMID:26933204|PMID:2703059|PMID:27030597|PMID:27100444|PMID:27310525|PMID:27332769|PMID:27333294|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27535533|PMID:27621632|PMID:27659338|PMID:27733942|PMID:27838405|PMID:27872624|PMID:27884173|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28289585|PMID:28302131|PMID:28340799|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28597968|PMID:28750028|PMID:28814775|PMID:28863210|PMID:28927886|PMID:28943464|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29151129|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29363386|PMID:29379228|PMID:29526930|PMID:29543225|PMID:29579081|PMID:29599418|PMID:29735907|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30235678|PMID:30355575|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30546872|PMID:30783801|PMID:30887796|PMID:30915208|PMID:30996171|PMID:31088470|PMID:31204589|PMID:31264586|PMID:31329540|PMID:31411330|PMID:31512232|PMID:31522233|PMID:31531243|PMID:31589380|PMID:31620089|PMID:31646357|PMID:31803701|PMID:31989427|PMID:31998953|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32359823|PMID:32401353|PMID:32441320|PMID:32447396|PMID:32461654|PMID:32741030|PMID:32853466|PMID:32909274|PMID:33223529|PMID:33331265|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:33813620|PMID:34426522|PMID:35098403|PMID:35490273|PMID:35780723|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9336425|PMID:9527614|PMID:9536098|PMID:9668175|PMID:9781020 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:3529 central core disease ISO RGD:737570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:25741868|PMID:28492532 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:630 genetic disease ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10611954|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12105243|PMID:12124996|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14612366|PMID:14679589|PMID:14727057|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15458961|PMID:15643295|PMID:15717684|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16255051|PMID:16378925|PMID:16439335|PMID:16439437|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16802374|PMID:16889173|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17665427|PMID:18097735|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19253030|PMID:19449169|PMID:19531756|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19863562|PMID:19929404|PMID:19934082|PMID:19934083|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20525738|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20688806|PMID:20721559|PMID:20828792|PMID:20890251|PMID:20981092|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22207183|PMID:22261745|PMID:22467954|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22906030|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23031807|PMID:23038988|PMID:23164758|PMID:23291246|PMID:23302539|PMID:23325590|PMID:23334425|PMID:23400211|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23524442|PMID:23588594|PMID:23592051|PMID:23716950|PMID:23844200|PMID:23847694|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24033266|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24251727|PMID:24289199|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24433404|PMID:24469716|PMID:24797171|PMID:24929125|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25615955|PMID:25648235|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25793047|PMID:25821352|PMID:25866490|PMID:25959027|PMID:26003477|PMID:26027984|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26690517|PMID:26843738|PMID:27030597|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27535533|PMID:27621632|PMID:27659338|PMID:27733942|PMID:27884173|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28927886|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29178647|PMID:29314707|PMID:29526930|PMID:29543225|PMID:29599418|PMID:29735907|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30783801|PMID:30915208|PMID:30996171|PMID:31204589|PMID:31264586|PMID:31411330|PMID:31531243|PMID:31620089|PMID:31989427|PMID:32312770|PMID:32401353|PMID:32741030|PMID:32853466|PMID:32909274|PMID:33223529|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:34426522|PMID:35098403|PMID:35490273|PMID:35780723|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9527614|PMID:9668175|PMID:9781020 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:6543 acne ISO RGD:737570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:850 lung disease ISO RGD:737570 D RGD:9068941 20200609 RGD associated with Mediterranean fever PMID:12746942|REF_RGD_ID:5129189 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:8553 pyoderma gangrenosum ISO RGD:737570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:9000727 Syncope ISO RGD:737570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Syncope PMID:10090880|PMID:10611954|PMID:10612841|PMID:10787450|PMID:10842288|PMID:11464238|PMID:11977178|PMID:15018633|PMID:15024744|PMID:16730661|PMID:17489852|PMID:19253030|PMID:19934083|PMID:20041150|PMID:20534143|PMID:21153919|PMID:21246368|PMID:21413889|PMID:21978701|PMID:22207183|PMID:22614345|PMID:22903357|PMID:23505242|PMID:23588594|PMID:23907647|PMID:23981758|PMID:24033266|PMID:24251727|PMID:24469716|PMID:24929125|PMID:25615955|PMID:25741868|PMID:26003477|PMID:26078663|PMID:27364639|PMID:27733942|PMID:28483595|PMID:28492532|PMID:29047407|PMID:29543225|PMID:29599418|PMID:31989427|PMID:32312770|PMID:33733382|PMID:34426522|PMID:35098403|PMID:9668175 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:9003984 Hyperpigmentation ISO RGD:737570 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hyperpigmentation PMID:25741868 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:9006532 Hematologic Neoplasms susceptibility ISO RGD:737570 D RGD:9068941 20200609 RGD DNA:mutations:cds:p.M694V,E148Q,M680I(human) PMID:20518828|REF_RGD_ID:11531118 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:9007619 Familial Mediterranean Fever, Autosomal Dominant ISO RGD:737570 D RGD:7240710 20180130 OMIM 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:9007619 Familial Mediterranean Fever, Autosomal Dominant ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial Mediterranean fever, autosomal dominant PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10842288|PMID:10852276|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11175300|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12064853|PMID:12105243|PMID:12180071|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14578333|PMID:14612366|PMID:14679589|PMID:14727057|PMID:14985395|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15168590|PMID:15300846|PMID:15458961|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16179998|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16439437|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16889173|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17576681|PMID:17665427|PMID:17665448|PMID:18097735|PMID:18307385|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19193696|PMID:19253030|PMID:19302049|PMID:19449169|PMID:19466506|PMID:19479870|PMID:19531756|PMID:19729025|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19845843|PMID:19863562|PMID:19929404|PMID:19934083|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20044784|PMID:20051664|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20721559|PMID:20828792|PMID:20890251|PMID:21153919|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22261745|PMID:22281876|PMID:22451026|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23010357|PMID:23031807|PMID:23038988|PMID:23155201|PMID:23164758|PMID:23206577|PMID:23280696|PMID:23334425|PMID:23400211|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23588594|PMID:23592051|PMID:23633568|PMID:23716950|PMID:23800337|PMID:23844200|PMID:23862117|PMID:23907647|PMID:23973724|PMID:24033266|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24233262|PMID:24263150|PMID:24289199|PMID:24301775|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24433404|PMID:24469716|PMID:24630722|PMID:24702757|PMID:24760114|PMID:24797171|PMID:24862656|PMID:24929125|PMID:24965843|PMID:25006247|PMID:25036384|PMID:25073670|PMID:25261100|PMID:25332561|PMID:25393764|PMID:25626331|PMID:25648235|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25821352|PMID:25866490|PMID:25959027|PMID:25974247|PMID:26003477|PMID:26028444|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26399837|PMID:26413094|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26574972|PMID:26585190|PMID:26690517|PMID:26722138|PMID:26759267|PMID:26843738|PMID:2703059|PMID:27030597|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27621632|PMID:27659338|PMID:27872624|PMID:27884173|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28289585|PMID:28302131|PMID:28340799|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28597968|PMID:28814775|PMID:28927886|PMID:28943464|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29543225|PMID:29579081|PMID:29599418|PMID:29735907|PMID:29808155|PMID:30171907|PMID:30355575|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30546872|PMID:30783801|PMID:30887796|PMID:30915208|PMID:31088470|PMID:31204589|PMID:31329540|PMID:31411330|PMID:31512232|PMID:31646357|PMID:31803701|PMID:31989427|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32359823|PMID:32401353 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:9007619 Familial Mediterranean Fever, Autosomal Dominant ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial Mediterranean fever, autosomal dominant PMID:32441320|PMID:32447396|PMID:32461654|PMID:32741030|PMID:32853466|PMID:33223529|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:33813620|PMID:34426522|PMID:35098403|PMID:35490273|PMID:35780723|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9336425|PMID:9527614|PMID:9536098|PMID:9668175|PMID:9781020 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:9008 psoriatic arthritis ISO RGD:737570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17408446 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:737570 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.M694V,E148Q(human) PMID:22351163|REF_RGD_ID:11531114 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:9538 multiple myeloma susceptibility ISO RGD:737570 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.E148Q,M694V(human) PMID:25202401|REF_RGD_ID:11531123 12248276 MEFV MEFV innate immunity regulator, pyrin gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:737570 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.E148Q,M680I(human) PMID:22942567|REF_RGD_ID:11531121 12248301 ENG endoglin gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12248301 ENG endoglin gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1351093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile Polyposis PMID:28492532 12248301 ENG endoglin gene DOID:0050855 renal fibrosis ISO RGD:1593188 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction; mRNA, protein:increased expression:kidney (rat) PMID:16440600|REF_RGD_ID:7248781 12248301 ENG endoglin gene DOID:0050855 renal fibrosis ISO RGD:1617632 D RGD:9068941 20200609 RGD protein:altered expression:kidney (mouse) PMID:15033991|REF_RGD_ID:7248783 12248301 ENG endoglin gene DOID:0050855 renal fibrosis treatment ISO RGD:1593188 D RGD:9068941 20200609 RGD PMID:15475654|REF_RGD_ID:7248782 12248301 ENG endoglin gene DOID:0060364 Galloway-Mowat syndrome 1 ISO RGD:1351093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 PMID:12673790|PMID:15879500|PMID:21158752|PMID:23399955|PMID:24055113|PMID:25637381|PMID:25741868|PMID:28492532 12248301 ENG endoglin gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1351093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:15879500|PMID:25741868|PMID:28492532|PMID:30120215 12248301 ENG endoglin gene DOID:0060688 arteriovenous malformations of the brain disease_progression ISO RGD:1351093 D RGD:9068941 20200609 RGD DNA:polymorphism: : 207G>A(human) PMID:24876084|REF_RGD_ID:11041171 12248301 ENG endoglin gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1351093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12248301 ENG endoglin gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1351093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12248301 ENG endoglin gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1351093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 12248301 ENG endoglin gene DOID:0080718 GNE myopathy ISO RGD:1351093 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing PMID:15266205|PMID:17786384|PMID:22022569 12248301 ENG endoglin gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12248301 ENG endoglin gene DOID:10283 prostate cancer severity ISO RGD:1351093 D RGD:9068941 20200609 RGD protein:increased expression:tumor, vasculature (human) PMID:23262399|REF_RGD_ID:7248770 12248301 ENG endoglin gene DOID:1037 lymphoid leukemia disease_progression ISO RGD:1351093 D RGD:9068941 20200609 RGD PMID:25030442|REF_RGD_ID:11041170 12248301 ENG endoglin gene DOID:10591 pre-eclampsia ISO RGD:1593188 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:22763474|REF_RGD_ID:7257530 12248301 ENG endoglin gene DOID:10591 pre-eclampsia ISO RGD:1617632 D RGD:9068941 20200609 RGD protein:increased expression:plasma (mouse) PMID:23357179|REF_RGD_ID:7248768 12248301 ENG endoglin gene DOID:10591 pre-eclampsia severity ISO RGD:1351093 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23460287|REF_RGD_ID:7248767 12248301 ENG endoglin gene DOID:10591 pre-eclampsia treatment ISO RGD:1593188 D RGD:9068941 20200609 RGD PMID:22308016|REF_RGD_ID:7257524 12248301 ENG endoglin gene DOID:10591 pre-eclampsia treatment ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:20351341|REF_RGD_ID:7248777 12248301 ENG endoglin gene DOID:10763 hypertension ISO RGD:1593188 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney (rat) PMID:19829664|REF_RGD_ID:4892132 12248301 ENG endoglin gene DOID:10941 intracranial aneurysm ISO RGD:1351093 D RGD:9068941 20200609 RGD PMID:10223461|REF_RGD_ID:1580964 12248301 ENG endoglin gene DOID:11294 arteriovenous malformation ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:24520391|REF_RGD_ID:11041564 12248301 ENG endoglin gene DOID:11294 arteriovenous malformation susceptibility ISO RGD:1351093 D RGD:9068941 20200609 RGD associated with Telangiectasia, Hereditary Hemorrhagic; PMID:8728706|REF_RGD_ID:11041184 12248301 ENG endoglin gene DOID:12466 secondary hyperparathyroidism ISO RGD:1351093 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:parathyroid gland, vasculature (human) PMID:18398016|REF_RGD_ID:7248778 12248301 ENG endoglin gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1351093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:10545596|PMID:10625079|PMID:10702408|PMID:10749981|PMID:10751092|PMID:10982033|PMID:11343967|PMID:11440987|PMID:11793473|PMID:12667943|PMID:12673790|PMID:12786761|PMID:12920067|PMID:14526373|PMID:14972453|PMID:15024723|PMID:15115879|PMID:15266205|PMID:15375013|PMID:15517393|PMID:15520401|PMID:15521985|PMID:15712270|PMID:15712271|PMID:15849752|PMID:15879500|PMID:15880681|PMID:15907823|PMID:15993872|PMID:16199547|PMID:16287957|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16542389|PMID:16611099|PMID:16690726|PMID:16705692|PMID:16706966|PMID:16752392|PMID:16754821|PMID:17384219|PMID:17525106|PMID:17576210|PMID:17576681|PMID:17719943|PMID:17786384|PMID:18495117|PMID:18498373|PMID:18673552|PMID:19270816|PMID:19299629|PMID:19508727|PMID:19767588|PMID:20414677|PMID:20656886|PMID:20719417|PMID:20813596|PMID:20824275|PMID:21158752|PMID:21402931|PMID:21415079|PMID:21967607|PMID:21987708|PMID:22022569|PMID:22192717|PMID:22385575|PMID:22656258|PMID:22722545|PMID:22991266|PMID:23298310|PMID:23399955|PMID:23535011|PMID:23710379|PMID:23722869|PMID:23801935|PMID:23805858|PMID:23919827|PMID:24001356|PMID:24033266|PMID:24055113|PMID:24196379|PMID:24267784|PMID:24603890|PMID:24921008|PMID:25080347|PMID:25312062|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25640679|PMID:25674101|PMID:25741868|PMID:25760803|PMID:25868896|PMID:25970827|PMID:26167679|PMID:26387786|PMID:26395556|PMID:26811476|PMID:26820968|PMID:27146957|PMID:27260700|PMID:28231770|PMID:28492532|PMID:28564608|PMID:28655553|PMID:28989145|PMID:29146883|PMID:29171923|PMID:29339534|PMID:29398197|PMID:29483005|PMID:29631995|PMID:29650961|PMID:29743074|PMID:30029678|PMID:30073140|PMID:30120215|PMID:30251589|PMID:30578383|PMID:30701124|PMID:30763665|PMID:31400083|PMID:31455059|PMID:31630786|PMID:31727138|PMID:32190976|PMID:32300199|PMID:32303606|PMID:32503579|PMID:32573726|PMID:32581362|PMID:33919892|PMID:34377910|PMID:8162075|PMID:8595426|PMID:9157574|PMID:9245986|PMID:9366572|PMID:9536098|PMID:9554745 12248301 ENG endoglin gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1351093 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler-Rendu-Weber disease PMID:10545596|PMID:10625079|PMID:10702408|PMID:10749981|PMID:10751092|PMID:10982033|PMID:11343967|PMID:11440987|PMID:11793473|PMID:12667943|PMID:12673790|PMID:12786761|PMID:12920067|PMID:14526373|PMID:14972453|PMID:15024723|PMID:15115879|PMID:15266205|PMID:15375013|PMID:15517393|PMID:15520401|PMID:15521985|PMID:15712270|PMID:15712271|PMID:15849752|PMID:15879500|PMID:15880681|PMID:15907823|PMID:15993872|PMID:16199547|PMID:16287957|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16542389|PMID:16611099|PMID:16690726|PMID:16705692|PMID:16706966|PMID:16752392|PMID:16754821|PMID:17384219|PMID:17525106|PMID:17576210|PMID:17576681|PMID:17719943|PMID:17786384|PMID:18495117|PMID:18498373|PMID:18673552|PMID:19270816|PMID:19299629|PMID:19508727|PMID:19767588|PMID:20412114|PMID:20414677|PMID:20656886|PMID:20719417|PMID:20813596|PMID:20824275|PMID:21158752|PMID:21402931|PMID:21415079|PMID:21967607|PMID:21987708|PMID:22022569|PMID:22192717|PMID:22385575|PMID:22656258|PMID:22722545|PMID:22991266|PMID:23298310|PMID:23399955|PMID:23535011|PMID:23710379|PMID:23722869|PMID:23801935|PMID:23805858|PMID:23919827|PMID:24001356|PMID:24033266|PMID:24055113|PMID:24196379|PMID:24267784|PMID:24603890|PMID:24921008|PMID:25080347|PMID:25312062|PMID:25326635|PMID:25637381|PMID:25640679|PMID:25674101|PMID:25741868|PMID:25760803|PMID:25868896|PMID:25970827|PMID:26167679|PMID:26387786|PMID:26395556|PMID:26811476|PMID:26820968|PMID:27146957|PMID:27260700|PMID:28231770|PMID:28492532|PMID:28564608|PMID:28655553|PMID:28989145|PMID:29146883|PMID:29171923|PMID:29339534|PMID:29398197|PMID:29483005|PMID:29631995|PMID:29650961|PMID:29743074|PMID:30029678|PMID:30073140|PMID:30120215|PMID:30251589|PMID:30578383|PMID:30578397|PMID:30701124|PMID:30763665|PMID:31400083|PMID:31455059|PMID:31630786|PMID:31727138|PMID:32165824|PMID:32190976|PMID:32300199|PMID:32303606|PMID:32503579|PMID:32573726|PMID:32581362|PMID:33919892|PMID:34377910|PMID:8162075|PMID:8595426|PMID:9157574|PMID:9245986|PMID:9366572|PMID:9536098|PMID:9554745 12248301 ENG endoglin gene DOID:1270 hereditary hemorrhagic telangiectasia no_association ISO RGD:1351093 D RGD:9068941 20200609 RGD PMID:10899246|REF_RGD_ID:11041566 12248301 ENG endoglin gene DOID:13580 cholestasis ISO RGD:1593188 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:21146604|REF_RGD_ID:7257529 12248301 ENG endoglin gene DOID:14791 Leber congenital amaurosis ISO RGD:1351093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber's amaurosis PMID:15879500|PMID:16470589|PMID:17786384|PMID:22991266|PMID:25741868|PMID:28492532|PMID:31400083|PMID:31455059|PMID:32165824|PMID:32573726 12248301 ENG endoglin gene DOID:1485 cystic fibrosis ISO RGD:1351093 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30806029 12248301 ENG endoglin gene DOID:1612 breast cancer treatment ISO RGD:1351093 D RGD:9068941 20200609 RGD human tumor in mouse model PMID:11691802|REF_RGD_ID:7248784 12248301 ENG endoglin gene DOID:1909 melanoma treatment ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:23076642|REF_RGD_ID:7248785 12248301 ENG endoglin gene DOID:3082 interstitial lung disease ISO RGD:1351093 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Interstitial pneumonitis PMID:25741868|PMID:28492532 12248301 ENG endoglin gene DOID:3393 coronary artery disease severity ISO RGD:1351093 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:21667051|REF_RGD_ID:7248776 12248301 ENG endoglin gene DOID:3525 middle cerebral artery infarction ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:24876084|REF_RGD_ID:11041171 12248301 ENG endoglin gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:1351093 D RGD:9068941 20200609 RGD protein:decreased expression:kidney, tumor (human) PMID:16536758|REF_RGD_ID:7248780 12248301 ENG endoglin gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:1351093 D RGD:9068941 20200609 RGD protein:increased expression:tumor, vasculature (human) PMID:22204709|REF_RGD_ID:7248775 12248301 ENG endoglin gene DOID:6000 congestive heart failure ISO RGD:1593188 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle (rat) PMID:20156938|REF_RGD_ID:7257540 12248301 ENG endoglin gene DOID:6000 congestive heart failure treatment ISO RGD:1593188 D RGD:9068941 20200609 RGD PMID:20156938|REF_RGD_ID:7257540 12248301 ENG endoglin gene DOID:630 genetic disease ISO RGD:1351093 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15517393|PMID:15879500|PMID:25741868|PMID:28231770|PMID:28492532 12248301 ENG endoglin gene DOID:6432 pulmonary hypertension ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:20042709|REF_RGD_ID:11041178 12248301 ENG endoglin gene DOID:684 hepatocellular carcinoma ISO RGD:1593188 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:20368095|REF_RGD_ID:7257538 12248301 ENG endoglin gene DOID:8947 diabetic retinopathy ISO RGD:1351093 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma,vitreous body PMID:16202216|REF_RGD_ID:1580961 12248301 ENG endoglin gene DOID:9000808 Hypercholesterolemia ISO RGD:1617632 D RGD:9068941 20200609 RGD protein:increased expression, aortic root, aortic arch, endothelium (mouse) PMID:17901886|REF_RGD_ID:7257552 12248301 ENG endoglin gene DOID:9000808 Hypercholesterolemia treatment ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:17901886|REF_RGD_ID:7257552 12248301 ENG endoglin gene DOID:9000855 Experimental Radiation Injuries ISO RGD:1593188 D RGD:9068941 20200609 RGD protein:decreased expression:lung (rat) PMID:22151990|REF_RGD_ID:7257525 12248301 ENG endoglin gene DOID:9000855 Experimental Radiation Injuries ISO RGD:1617632 D RGD:9068941 20200609 RGD kidney PMID:23022174|REF_RGD_ID:7248771 12248301 ENG endoglin gene DOID:9000888 Pregnancy in Diabetics ISO RGD:1351093 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression: serum PMID:18985316|REF_RGD_ID:2313806 12248301 ENG endoglin gene DOID:9001227 Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related ISO RGD:1351093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PMID:14684682|PMID:15024723|PMID:15115879|PMID:15687131|PMID:15879500|PMID:18156574|PMID:23919827|PMID:25741868|PMID:26387786|PMID:28492532|PMID:32573726 12248301 ENG endoglin gene DOID:9001600 Wounds and Injuries disease_progression ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:23349951|REF_RGD_ID:7248769 12248301 ENG endoglin gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1351093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:10625079|PMID:15517393|PMID:15521985|PMID:15879500|PMID:16705692|PMID:18498373|PMID:19270816|PMID:21158752|PMID:22991266|PMID:23298310|PMID:23722869|PMID:24033266|PMID:25741868|PMID:25970827|PMID:26167679|PMID:26387786|PMID:28492532|PMID:29650961|PMID:30029678|PMID:32573726|PMID:32581362|PMID:33919892 12248301 ENG endoglin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351093 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; mRNA:increased expression:kidney PMID:19395281|REF_RGD_ID:2313795 12248301 ENG endoglin gene DOID:9002350 Hereditary Hemorrhagic Telangiectasia, Type 1 ISO RGD:1351093 D RGD:7240710 20180130 OMIM 12248301 ENG endoglin gene DOID:9002350 Hereditary Hemorrhagic Telangiectasia, Type 1 ISO RGD:1351093 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Haemorrhagic telangiectasia 1 | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 PMID:10545596|PMID:10625079|PMID:10702408|PMID:10749981|PMID:10982033|PMID:11343967|PMID:11440987|PMID:11793473|PMID:12673790|PMID:12786761|PMID:12920067|PMID:14526373|PMID:14684682|PMID:15024723|PMID:15266205|PMID:15375013|PMID:15517393|PMID:15521985|PMID:15712270|PMID:15712271|PMID:15849752|PMID:15879500|PMID:15880681|PMID:15907823|PMID:15993872|PMID:16164574|PMID:16199547|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16542389|PMID:16690726|PMID:16705692|PMID:16752392|PMID:16754821|PMID:17384219|PMID:17525106|PMID:17576681|PMID:17719943|PMID:17786384|PMID:18495117|PMID:18498373|PMID:18607909|PMID:18673552|PMID:19270816|PMID:19299629|PMID:19508727|PMID:19767588|PMID:20412114|PMID:20414677|PMID:20656886|PMID:20719417|PMID:20813596|PMID:20824275|PMID:21158752|PMID:21415079|PMID:21967607|PMID:22022569|PMID:22192717|PMID:22347366|PMID:22385575|PMID:22656258|PMID:22991266|PMID:23298310|PMID:23300529|PMID:23399955|PMID:23535011|PMID:23710379|PMID:23722869|PMID:23801935|PMID:24001356|PMID:24033266|PMID:24055113|PMID:24196379|PMID:24267784|PMID:24603890|PMID:24921008|PMID:25080347|PMID:25312062|PMID:25326635|PMID:25637381|PMID:25674101|PMID:25741868|PMID:25970827|PMID:2601709|PMID:26167679|PMID:26387786|PMID:26811476|PMID:27146957|PMID:28231770|PMID:28492532|PMID:28564608|PMID:28655553|PMID:28989145|PMID:29171923|PMID:29398197|PMID:29483005|PMID:29650961|PMID:29743074|PMID:30029678|PMID:30374176|PMID:30701124|PMID:31400083|PMID:31455059|PMID:31630786|PMID:31727138|PMID:32165824|PMID:32300199|PMID:32303606|PMID:32503579|PMID:32573726|PMID:32581362|PMID:33919892|PMID:34008892|PMID:34377910|PMID:34900561|PMID:8162075|PMID:9245986|PMID:9366572|PMID:9536098|PMID:9554745 12248301 ENG endoglin gene DOID:9003845 Stress Fractures disease_progression ISO RGD:1593188 D RGD:9068941 20200609 RGD protein:increased expression:ulna, vasculature (rat) PMID:23044046|REF_RGD_ID:7248788 12248301 ENG endoglin gene DOID:9005819 Hereditary Hemorrhagic Telangiectasia, Type 2 ISO RGD:1351093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oral cavity telangiectasia PMID:25741868 12248301 ENG endoglin gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:20042709|REF_RGD_ID:11041178 12248301 ENG endoglin gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1593188 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (rat) PMID:16751653|REF_RGD_ID:7248779 12248301 ENG endoglin gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:16751653|REF_RGD_ID:7248779 12248301 ENG endoglin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1593188 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:21146604|REF_RGD_ID:7257529 12248301 ENG endoglin gene DOID:9007536 Moyamoya Disease 2 ISO RGD:1351093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Moyamoya disease 2 PMID:25741868 12248301 ENG endoglin gene DOID:9008421 Epistaxis ISO RGD:1351093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spontaneous, recurrent epistaxis PMID:15879500|PMID:16542389|PMID:28492532|PMID:30251589 12248301 ENG endoglin gene DOID:9008939 Breast Neoplasms treatment ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:21431419|REF_RGD_ID:7257526 12248301 ENG endoglin gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1351093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:16754821|PMID:18498373|PMID:23298310|PMID:24033266|PMID:25741868|PMID:26167679|PMID:26387786|PMID:28492532|PMID:30029678 12248301 ENG endoglin gene DOID:9074 systemic lupus erythematosus ISO RGD:1351093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus PMID:17576681|PMID:28492532|PMID:32190976|PMID:9536098 12248301 ENG endoglin gene DOID:9538 multiple myeloma severity ISO RGD:1351093 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:23576184|REF_RGD_ID:11041181 12248301 ENG endoglin gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:1351093 D RGD:9068941 20200609 RGD PMID:17572488|REF_RGD_ID:11041565 12248320 MRAP melanocortin 2 receptor accessory protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12248320 MRAP melanocortin 2 receptor accessory protein gene DOID:0060898 Parkinson's disease 20 ISO RGD:1603024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12248320 MRAP melanocortin 2 receptor accessory protein gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1603024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12248320 MRAP melanocortin 2 receptor accessory protein gene DOID:0080621 glucocorticoid deficiency 1 ISO RGD:1603024 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 1 PMID:15654338|PMID:24033266|PMID:25741868 12248320 MRAP melanocortin 2 receptor accessory protein gene DOID:630 genetic disease ISO RGD:1603024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248320 MRAP melanocortin 2 receptor accessory protein gene DOID:9005698 ZTTK Syndrome ISO RGD:1603024 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 12248320 MRAP melanocortin 2 receptor accessory protein gene DOID:9006725 Glucocorticoid Deficiency 2 ISO RGD:1603024 D RGD:7240710 20180130 OMIM 12248320 MRAP melanocortin 2 receptor accessory protein gene DOID:9006725 Glucocorticoid Deficiency 2 ISO RGD:1603024 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 2 PMID:15654338|PMID:16868047|PMID:24033266|PMID:25741868|PMID:28492532 12248320 MRAP melanocortin 2 receptor accessory protein gene DOID:9553 adrenal gland disease ISO RGD:1621455 D RGD:9068941 20220825 MouseDO 12248327 C9H17orf78 chromosome 9 C17orf78 homolog gene DOID:0060041 autism spectrum disorder ISO RGD:1602416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 12248327 C9H17orf78 chromosome 9 C17orf78 homolog gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1602416 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 12248327 C9H17orf78 chromosome 9 C17orf78 homolog gene DOID:12849 autistic disorder ISO RGD:1602416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12248327 C9H17orf78 chromosome 9 C17orf78 homolog gene DOID:5419 schizophrenia ISO RGD:1602416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12248327 C9H17orf78 chromosome 9 C17orf78 homolog gene DOID:630 genetic disease ISO RGD:1602416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248327 C9H17orf78 chromosome 9 C17orf78 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12248327 C9H17orf78 chromosome 9 C17orf78 homolog gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1602416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 12248338 C1H6orf118 chromosome 1 C6orf118 homolog gene DOID:630 genetic disease ISO RGD:1349789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248354 TAS2R8 taste 2 receptor member 8 gene DOID:630 genetic disease ISO RGD:1344558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248359 TMEM168 transmembrane protein 168 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12248359 TMEM168 transmembrane protein 168 gene DOID:5419 schizophrenia ISO RGD:1605052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12248359 TMEM168 transmembrane protein 168 gene DOID:630 genetic disease ISO RGD:1605052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248359 TMEM168 transmembrane protein 168 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12248408 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1350455 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:10080174|PMID:11349233|PMID:11494300|PMID:14662656|PMID:15576045|PMID:17576681|PMID:19073330|PMID:20818383|PMID:21364701|PMID:21696386|PMID:22644603|PMID:23562761|PMID:24642831|PMID:25615419|PMID:25741868|PMID:26024641|PMID:26345448|PMID:27126960|PMID:27344648|PMID:28492532|PMID:29353736|PMID:29948731|PMID:29976978|PMID:30090137|PMID:31589614|PMID:31665838|PMID:31687339|PMID:32123317|PMID:32180488|PMID:32348839|PMID:33083013|PMID:33182419|PMID:34134969|PMID:34716721|PMID:34807224|PMID:9536098 12248408 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1350455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:10080174|PMID:11349233|PMID:11494300|PMID:17576681|PMID:19073330|PMID:20818383|PMID:22644603|PMID:23562761|PMID:24642831|PMID:25615419|PMID:25741868|PMID:26024641|PMID:26345448|PMID:27344648|PMID:28492532|PMID:30090137|PMID:31589614|PMID:31665838|PMID:32180488|PMID:33083013|PMID:33182419|PMID:34134969|PMID:34716721|PMID:9536098 12248408 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:0112082 nuclear type mitochondrial complex I deficiency 4 ISO RGD:1350455 D RGD:7240710 20190315 OMIM 12248408 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:0112082 nuclear type mitochondrial complex I deficiency 4 ISO RGD:1350455 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | ClinVar Annotator: match by term: NDUFV1-Related Disorders PMID:10080174|PMID:11349233|PMID:11494300|PMID:14662656|PMID:15576045|PMID:17576681|PMID:19073330|PMID:20818383|PMID:21364701|PMID:21696386|PMID:22644603|PMID:23266820|PMID:23562761|PMID:23631824|PMID:25615419|PMID:25741868|PMID:26024641|PMID:26345448|PMID:27126960|PMID:27344648|PMID:28454995|PMID:28492532|PMID:29353736|PMID:29948731|PMID:29976978|PMID:30090137|PMID:30770271|PMID:31589614|PMID:31665838|PMID:32180488|PMID:32445240|PMID:33083013|PMID:33182419|PMID:34134969|PMID:34716721|PMID:34807224|PMID:34906502|PMID:9536098 12248408 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:1059 intellectual disability ISO RGD:1350455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12248408 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:3652 Leigh disease ISO RGD:1350455 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:10080174|PMID:11349233|PMID:11494300|PMID:14662656|PMID:15576045|PMID:17576681|PMID:20818383|PMID:21364701|PMID:21696386|PMID:22644603|PMID:23562761|PMID:23631824|PMID:24642831|PMID:25615419|PMID:25741868|PMID:26024641|PMID:26345448|PMID:27126960|PMID:27344648|PMID:28492532|PMID:29353736|PMID:29948731|PMID:29976978|PMID:30090137|PMID:31589614|PMID:31665838|PMID:31687339|PMID:32123317|PMID:32348839|PMID:33083013|PMID:34134969|PMID:34716721|PMID:34807224|PMID:9536098 12248408 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:630 genetic disease ISO RGD:1350455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20153825|PMID:25741868|PMID:28454995|PMID:28492532|PMID:34906502 12248408 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:8398 osteoarthritis ISO RGD:1350455 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12248408 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1350455 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12248408 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1350455 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:10080174|PMID:11349233|PMID:11494300|PMID:14662656|PMID:15576045|PMID:17576681|PMID:20818383|PMID:21364701|PMID:21696386|PMID:22644603|PMID:23562761|PMID:23631824|PMID:25615419|PMID:25741868|PMID:26024641|PMID:26345448|PMID:27126960|PMID:27344648|PMID:28492532|PMID:29353736|PMID:29948731|PMID:29976978|PMID:30090137|PMID:31589614|PMID:31665838|PMID:33083013|PMID:34134969|PMID:34716721|PMID:34807224|PMID:9536098 12248408 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:9000918 Disease Progression ISO RGD:1350455 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12248408 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1350455 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12248408 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1350455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12248422 NFS1 NFS1 cysteine desulfurase gene DOID:630 genetic disease ISO RGD:1350532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12248422 NFS1 NFS1 cysteine desulfurase gene DOID:9005483 Combined Oxidative Phosphorylation Deficiency 52 ISO RGD:1350532 D RGD:7240710 20210707 OMIM 12248422 NFS1 NFS1 cysteine desulfurase gene DOID:9005483 Combined Oxidative Phosphorylation Deficiency 52 ISO RGD:1350532 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 52 PMID:16199547|PMID:24498631|PMID:25741868|PMID:28492532|PMID:33457206 12248439 ABCD2 ATP binding cassette subfamily D member 2 gene DOID:1459 hypothyroidism treatment ISO RGD:730968 D RGD:9068941 20200609 RGD PMID:28200172|REF_RGD_ID:13673918 12248439 ABCD2 ATP binding cassette subfamily D member 2 gene DOID:630 genetic disease ISO RGD:730967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248439 ABCD2 ATP binding cassette subfamily D member 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730967 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12248454 PRDX3 peroxiredoxin 3 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1349610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 12248454 PRDX3 peroxiredoxin 3 gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1349610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:25741868 12248454 PRDX3 peroxiredoxin 3 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1349610 D RGD:9068941 20220310 CTD CTD Direct Evidence: therapeutic PMID:34678374 12248454 PRDX3 peroxiredoxin 3 gene DOID:0080600 COVID-19 ISO RGD:1349610 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12248454 PRDX3 peroxiredoxin 3 gene DOID:10603 glucose intolerance ISO RGD:620040 D RGD:9068941 20200609 RGD associated with obesity; PMID:27523322|REF_RGD_ID:11532750 12248454 PRDX3 peroxiredoxin 3 gene DOID:11476 osteoporosis ISO RGD:1349610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12248454 PRDX3 peroxiredoxin 3 gene DOID:231 motor neuron disease ISO RGD:1349610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16702190 12248454 PRDX3 peroxiredoxin 3 gene DOID:630 genetic disease ISO RGD:1349610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248454 PRDX3 peroxiredoxin 3 gene DOID:9000918 Disease Progression ISO RGD:1349610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 12248454 PRDX3 peroxiredoxin 3 gene DOID:9003361 CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET ISO RGD:1349610 D RGD:7240710 20220615 OMIM 12248454 PRDX3 peroxiredoxin 3 gene DOID:9003361 CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET ISO RGD:1349610 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, punctiform and polychromatic pre-Descemet PMID:31782998|PMID:34369396 12248454 PRDX3 peroxiredoxin 3 gene DOID:9003435 Autosomal Recessive Spinocerebellar Ataxia 32 ISO RGD:1349610 D RGD:7240710 20220518 OMIM 12248454 PRDX3 peroxiredoxin 3 gene DOID:9003435 Autosomal Recessive Spinocerebellar Ataxia 32 ISO RGD:1349610 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 32 PMID:25741868|PMID:33889951|PMID:35766882|PMID:35792670 12248454 PRDX3 peroxiredoxin 3 gene DOID:9007692 Insulin Resistance ISO RGD:620040 D RGD:9068941 20200609 RGD associated with obesity; PMID:27523322|REF_RGD_ID:11532750 12248465 RELL2 RELT like 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313209 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12248465 RELL2 RELT like 2 gene DOID:630 genetic disease ISO RGD:1313209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248465 RELL2 RELT like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12248465 RELL2 RELT like 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313209 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12248485 GPBP1 GC-rich promoter binding protein 1 gene DOID:630 genetic disease ISO RGD:1607008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248485 GPBP1 GC-rich promoter binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12248510 ZWILCH zwilch kinetochore protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12248510 ZWILCH zwilch kinetochore protein gene DOID:2717 Bloom syndrome ISO RGD:1602882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12248510 ZWILCH zwilch kinetochore protein gene DOID:630 genetic disease ISO RGD:1602882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248510 ZWILCH zwilch kinetochore protein gene DOID:9004657 Weight Gain ISO RGD:1602882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12248510 ZWILCH zwilch kinetochore protein gene DOID:9256 colorectal cancer ISO RGD:1602882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12248533 CPNE5 copine 5 gene DOID:0050553 JMP syndrome ISO RGD:1317548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12248533 CPNE5 copine 5 gene DOID:630 genetic disease ISO RGD:1317548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248562 SYT7 synaptotagmin 7 gene DOID:0050773 paraganglioma ISO RGD:736086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:22241717|PMID:26096992|PMID:28492532 12248562 SYT7 synaptotagmin 7 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:736086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12248562 SYT7 synaptotagmin 7 gene DOID:1059 intellectual disability ISO RGD:736086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12248562 SYT7 synaptotagmin 7 gene DOID:2661 myoepithelioma ISO RGD:736086 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12248562 SYT7 synaptotagmin 7 gene DOID:630 genetic disease ISO RGD:736086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248562 SYT7 synaptotagmin 7 gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:736086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:22241717|PMID:26096992|PMID:28492532 12248585 PLK5 polo like kinase 5 (inactive) gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:2302687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 12248585 PLK5 polo like kinase 5 (inactive) gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:2302687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12248585 PLK5 polo like kinase 5 (inactive) gene DOID:5339 cyclic hematopoiesis ISO RGD:2302687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12248585 PLK5 polo like kinase 5 (inactive) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2302687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12248603 SERPINH1 serpin family H member 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:732731 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12248603 SERPINH1 serpin family H member 1 gene DOID:0110346 osteogenesis imperfecta type 10 IAGP D RGD:12801476 20210603 OMIA Osteogenesis imperfecta, SERPINH1-related PMID:19629171|PMID:23315765|PMID:12949410|PMID:23525816|PMID:23525818|PMID:26004778|PMID:22847422 12248603 SERPINH1 serpin family H member 1 gene DOID:0110346 osteogenesis imperfecta type 10 ISO RGD:732731 D RGD:7240710 20230517 OMIM 12248603 SERPINH1 serpin family H member 1 gene DOID:0110346 osteogenesis imperfecta type 10 ISO RGD:732731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: OI, TYPE X | ClinVar Annotator: match by term: Osteogenesis imperfecta type 10 PMID:20188343|PMID:25510505|PMID:25741868|PMID:28492532 12248603 SERPINH1 serpin family H member 1 gene DOID:0111144 preterm premature rupture of the membranes ISO RGD:732731 D RGD:7240710 20230517 OMIM 12248603 SERPINH1 serpin family H member 1 gene DOID:0111144 preterm premature rupture of the membranes ISO RGD:732731 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Preterm premature rupture of the membranes PMID:16938879|PMID:25741868|PMID:28492532 12248603 SERPINH1 serpin family H member 1 gene DOID:1059 intellectual disability ISO RGD:732731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12248603 SERPINH1 serpin family H member 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:732731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12248603 SERPINH1 serpin family H member 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:732731 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532 12248603 SERPINH1 serpin family H member 1 gene DOID:326 ischemia ISO RGD:732731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19458120 12248603 SERPINH1 serpin family H member 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:732731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 12248603 SERPINH1 serpin family H member 1 gene DOID:5082 liver cirrhosis ISO RGD:732731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24321339 12248603 SERPINH1 serpin family H member 1 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:732731 D RGD:9068941 20210212 RGD associated with Schistosomiasis Japonica;mRNA:increased expression:liver (human) PMID:24295791|REF_RGD_ID:41410784 12248603 SERPINH1 serpin family H member 1 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:732731 D RGD:9068941 20210212 RGD associated with schistosomiasis;mRNA:increased expression:liver (human) PMID:25111595|REF_RGD_ID:41410780 12248603 SERPINH1 serpin family H member 1 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:737440 D RGD:9068941 20210219 RGD associated with Schistosomiasis Japonica PMID:31612672|REF_RGD_ID:41412161 12248603 SERPINH1 serpin family H member 1 gene DOID:5082 liver cirrhosis treatment ISO RGD:737440 D RGD:9068941 20210212 RGD associated with Schistosomiasis Japonica PMID:24295791|PMID:32410640|REF_RGD_ID:41410784|REF_RGD_ID:41410785 12248603 SERPINH1 serpin family H member 1 gene DOID:630 genetic disease ISO RGD:732731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12248603 SERPINH1 serpin family H member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18376398|PMID:25380136 12248603 SERPINH1 serpin family H member 1 gene DOID:9002433 Schistosomiasis Japonica ISO RGD:737440 D RGD:9068941 20210219 RGD mRNA,protein:increased expression:liver, serum (mouse) PMID:31612672|REF_RGD_ID:41412161 12248603 SERPINH1 serpin family H member 1 gene DOID:9002488 Peritoneal Fibrosis disease_progression ISO RGD:69302 D RGD:9068941 20210212 RGD protein:increased expression:peritoneum (rat) PMID:12691502|REF_RGD_ID:41410779 12248603 SERPINH1 serpin family H member 1 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:69302 D RGD:9068941 20210212 RGD PMID:12911538|PMID:32585450|REF_RGD_ID:41410781|REF_RGD_ID:41410783 12248603 SERPINH1 serpin family H member 1 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:737440 D RGD:9068941 20210212 RGD PMID:15458466|REF_RGD_ID:41410782 12248618 RGS20 regulator of G protein signaling 20 gene DOID:630 genetic disease ISO RGD:1312560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248657 FIGN fidgetin, microtubule severing factor gene DOID:12849 autistic disorder ISO RGD:1317798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 12248657 FIGN fidgetin, microtubule severing factor gene DOID:630 genetic disease ISO RGD:1317798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248657 FIGN fidgetin, microtubule severing factor gene DOID:9008582 Developmental Disease ISO RGD:1317798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12248665 ZDBF2 zinc finger DBF-type containing 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:1605970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12248665 ZDBF2 zinc finger DBF-type containing 2 gene DOID:3007 breast ductal carcinoma ISO RGD:1605970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12248665 ZDBF2 zinc finger DBF-type containing 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1605970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 12248665 ZDBF2 zinc finger DBF-type containing 2 gene DOID:630 genetic disease ISO RGD:1605970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12248665 ZDBF2 zinc finger DBF-type containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12248665 ZDBF2 zinc finger DBF-type containing 2 gene DOID:9005806 Nasopalpebral Lipoma Coloboma Syndrome ISO RGD:1605970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome PMID:23636874|PMID:27139419 12248677 DGKQ diacylglycerol kinase theta gene DOID:12894 Sjogren's syndrome ISO RGD:1318208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 12248677 DGKQ diacylglycerol kinase theta gene DOID:1856 cherubism ISO RGD:1318208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12248677 DGKQ diacylglycerol kinase theta gene DOID:630 genetic disease ISO RGD:1318208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248677 DGKQ diacylglycerol kinase theta gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1318208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 12248711 WDR70 WD repeat domain 70 gene DOID:630 genetic disease ISO RGD:1605675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248711 WDR70 WD repeat domain 70 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12248711 WDR70 WD repeat domain 70 gene DOID:9008086 Developmental Disabilities ISO RGD:1605675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12248728 PLD5 phospholipase D family member 5 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1603543 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12248728 PLD5 phospholipase D family member 5 gene DOID:0111261 fumarase deficiency ISO RGD:1603543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12761039|PMID:21398687|PMID:22069215|PMID:28300276|PMID:28492532 12248728 PLD5 phospholipase D family member 5 gene DOID:12849 autistic disorder ISO RGD:1603543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20663923 12248728 PLD5 phospholipase D family member 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1603543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12248728 PLD5 phospholipase D family member 5 gene DOID:630 genetic disease ISO RGD:1603543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248728 PLD5 phospholipase D family member 5 gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:1603543 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 PMID:25087610 12248728 PLD5 phospholipase D family member 5 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1603543 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:20835237|PMID:28492532 12248728 PLD5 phospholipase D family member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12248728 PLD5 phospholipase D family member 5 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1603543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 12248728 PLD5 phospholipase D family member 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12248751 OTULIN OTU deubiquitinase with linear linkage specificity gene DOID:0080163 otulipenia ISO RGD:1602667 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autoinflammation, panniculitis, and dermatosis syndrome | ClinVar Annotator: match by term: OTULIPENIA PMID:25741868|PMID:27523608|PMID:27559085|PMID:28492532|PMID:30796585|PMID:30804083|PMID:35170849|PMID:35587511 12248751 OTULIN OTU deubiquitinase with linear linkage specificity gene DOID:0080163 otulipenia susceptibility ISO RGD:1602667 D RGD:7240710 20230517 OMIM 12248751 OTULIN OTU deubiquitinase with linear linkage specificity gene DOID:0080801 autosomal dominant craniometaphyseal dysplasia ISO RGD:1602667 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant PMID:11326272|PMID:11326338|PMID:19449425|PMID:20358596|PMID:25741868|PMID:2712793|PMID:28492532 12248751 OTULIN OTU deubiquitinase with linear linkage specificity gene DOID:1059 intellectual disability ISO RGD:1602667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12248751 OTULIN OTU deubiquitinase with linear linkage specificity gene DOID:1156 chondrocalcinosis ISO RGD:1602667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondrocalcinosis 12248751 OTULIN OTU deubiquitinase with linear linkage specificity gene DOID:630 genetic disease ISO RGD:1602667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12248751 OTULIN OTU deubiquitinase with linear linkage specificity gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12248751 OTULIN OTU deubiquitinase with linear linkage specificity gene DOID:9006021 Immunodeficiency 107 ISO RGD:1602667 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection PMID:25741868|PMID:27559085|PMID:28492532|PMID:35587511 12248751 OTULIN OTU deubiquitinase with linear linkage specificity gene DOID:9006021 Immunodeficiency 107 susceptibility ISO RGD:1602667 D RGD:7240710 20230517 OMIM 12248751 OTULIN OTU deubiquitinase with linear linkage specificity gene DOID:9006590 Chondrocalcinosis 2 ISO RGD:1602667 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Chondrocalcinosis 2 PMID:11326272|PMID:19449425|PMID:25741868|PMID:2712793|PMID:28492532 12248772 LRRC4 leucine rich repeat containing 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12248772 LRRC4 leucine rich repeat containing 4 gene DOID:630 genetic disease ISO RGD:1349330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248778 ALKBH4 alkB homolog 4, lysine demethylase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12248778 ALKBH4 alkB homolog 4, lysine demethylase gene DOID:630 genetic disease ISO RGD:1603303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248790 G0S2 G0/G1 switch 2 gene DOID:0080600 COVID-19 ISO RGD:1604363 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12248790 G0S2 G0/G1 switch 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1604363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12248790 G0S2 G0/G1 switch 2 gene DOID:305 carcinoma ISO RGD:1604363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12248790 G0S2 G0/G1 switch 2 gene DOID:630 genetic disease ISO RGD:1604363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248790 G0S2 G0/G1 switch 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1604363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12248790 G0S2 G0/G1 switch 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12248790 G0S2 G0/G1 switch 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1604363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12248790 G0S2 G0/G1 switch 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12248796 NUDT8 nudix hydrolase 8 gene DOID:1059 intellectual disability ISO RGD:1319158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12248796 NUDT8 nudix hydrolase 8 gene DOID:630 genetic disease ISO RGD:1319158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248796 NUDT8 nudix hydrolase 8 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1319158 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12248796 NUDT8 nudix hydrolase 8 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319158 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12248804 SIPA1L3 signal induced proliferation associated 1 like 3 gene DOID:0110262 cataract 45 ISO RGD:1322892 D RGD:7240710 20190315 OMIM 12248804 SIPA1L3 signal induced proliferation associated 1 like 3 gene DOID:0110262 cataract 45 ISO RGD:1322892 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cataract 45 PMID:25741868|PMID:25804400|PMID:28492532 12248804 SIPA1L3 signal induced proliferation associated 1 like 3 gene DOID:630 genetic disease ISO RGD:1322892 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12248831 NAPA NSF attachment protein alpha gene DOID:630 genetic disease ISO RGD:733353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248846 LOC100683403 NKG2-A/NKG2-B type II integral membrane protein-like gene DOID:13241 Behcet's disease ISO RGD:1342769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291587 12248846 LOC100683403 NKG2-A/NKG2-B type II integral membrane protein-like gene DOID:630 genetic disease ISO RGD:1342769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248846 LOC100683403 NKG2-A/NKG2-B type II integral membrane protein-like gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1342769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18006695 12248864 NKRF NFKB repressing factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12248864 NKRF NFKB repressing factor gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1343355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 12248864 NKRF NFKB repressing factor gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1343355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 12248864 NKRF NFKB repressing factor gene DOID:12849 autistic disorder ISO RGD:1343355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12248864 NKRF NFKB repressing factor gene DOID:630 genetic disease ISO RGD:1343355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248877 FAM50A family with sequence similarity 50 member A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1344714 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12248877 FAM50A family with sequence similarity 50 member A gene DOID:0050476 Barth syndrome ISO RGD:1344714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12248877 FAM50A family with sequence similarity 50 member A gene DOID:0050764 Armfield syndrome ISO RGD:1344714 D RGD:7240710 20200902 OMIM 12248877 FAM50A family with sequence similarity 50 member A gene DOID:0050764 Armfield syndrome ISO RGD:1344714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Armfield syndrome PMID:10398235|PMID:25741868|PMID:32703943 12248877 FAM50A family with sequence similarity 50 member A gene DOID:0050800 creatine transporter deficiency ISO RGD:1344714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12248877 FAM50A family with sequence similarity 50 member A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12248877 FAM50A family with sequence similarity 50 member A gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1344714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 12248877 FAM50A family with sequence similarity 50 member A gene DOID:0112003 immunodeficiency 33 ISO RGD:1344714 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12248877 FAM50A family with sequence similarity 50 member A gene DOID:10588 adrenoleukodystrophy ISO RGD:1344714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12248877 FAM50A family with sequence similarity 50 member A gene DOID:1059 intellectual disability ISO RGD:1344714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10398235|PMID:25741868|PMID:32703943 12248877 FAM50A family with sequence similarity 50 member A gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1344714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12248877 FAM50A family with sequence similarity 50 member A gene DOID:12849 autistic disorder ISO RGD:1344714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12248877 FAM50A family with sequence similarity 50 member A gene DOID:13628 favism ISO RGD:1344714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12248877 FAM50A family with sequence similarity 50 member A gene DOID:2729 dyskeratosis congenita ISO RGD:1344714 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12248877 FAM50A family with sequence similarity 50 member A gene DOID:607 paraplegia ISO RGD:1344714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12248877 FAM50A family with sequence similarity 50 member A gene DOID:630 genetic disease ISO RGD:1344714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248877 FAM50A family with sequence similarity 50 member A gene DOID:9002720 Splenomegaly ISO RGD:1344714 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12248895 OR51S1 olfactory receptor family 51 subfamily S member 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1347151 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12248895 OR51S1 olfactory receptor family 51 subfamily S member 1 gene DOID:630 genetic disease ISO RGD:1347151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNP: : 39179G>T(human) PMID:19626461|REF_RGD_ID:9589082 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1606037 D RGD:9068941 20200609 RGD PMID:24625449|REF_RGD_ID:9589120 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1606037 D RGD:9068941 20200609 RGD PMID:24625449|REF_RGD_ID:9589120 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606037 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:32431489 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:0060041 autism spectrum disorder ISO RGD:1606037 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:25290267|PMID:35663546 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:0070168 spermatogenic failure 3 ISO RGD:1606037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:10647011|PMID:11102980|PMID:11919202|PMID:15580563|PMID:25741868|PMID:28492532|PMID:31479588 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1606037 D RGD:7240710 20180130 OMIM 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1606037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency | ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 1 PMID:10555141|PMID:10588719|PMID:10647011|PMID:11038463|PMID:11102980|PMID:11741835|PMID:11919202|PMID:12239717|PMID:12925568|PMID:15580563|PMID:16501171|PMID:16543361|PMID:17576681|PMID:17893117|PMID:17908720|PMID:21549127|PMID:21559330|PMID:23486536|PMID:24033266|PMID:24577265|PMID:25741868|PMID:26851945|PMID:27153398|PMID:27479843|PMID:27734333|PMID:28128455|PMID:28454995|PMID:28492532|PMID:28713390|PMID:29255178|PMID:29659838|PMID:30010917|PMID:30630233|PMID:31479588|PMID:31686314|PMID:32135276|PMID:32888943|PMID:3361388|PMID:9536098 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:1324 lung cancer disease_progression ISO RGD:1606037 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:24548441|REF_RGD_ID:9588658 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:14654 prostatitis ISO RGD:1303274 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:prostate gland ventral lobe: PMID:20056826|REF_RGD_ID:9588290 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:1682 congenital heart disease ISO RGD:1303274 D RGD:9068941 20200609 RGD associated with Vitamin A Deficiency; mRNA:decreased expression:heart: PMID:23333085|REF_RGD_ID:9588314 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:2030 anxiety disorder ISO RGD:1303274 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus: PMID:23529784|REF_RGD_ID:9588317 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:2526 prostate adenocarcinoma ISO RGD:1551604 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:prostate gland: PMID:17178860|REF_RGD_ID:2289681 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:288 endometriosis of uterus ISO RGD:1606037 D RGD:9068941 20200609 RGD protein:increased expression:ectopic endometrium: PMID:22572543|REF_RGD_ID:9588664 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:289 endometriosis ISO RGD:1606037 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium: PMID:17081533|REF_RGD_ID:9588669 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:305 carcinoma ISO RGD:1606037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21458988 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:3275 thymoma susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD associated with Myasthenia Gravis;DNA:SNP:promoter: -579G>T(human) PMID:24260492|REF_RGD_ID:9589098 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1606037 D RGD:9068941 20200609 RGD PMID:22919364|REF_RGD_ID:9589121 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1606037 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:22213175|REF_RGD_ID:9589085 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:promoter:-283T >C,-579G>T(human) PMID:15528220|REF_RGD_ID:9589086 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-283T >C,-579G>T(human) PMID:15528220|REF_RGD_ID:9589086 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:5419 schizophrenia susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :(rs6119954),(rs2424908)(human) PMID:19576953|REF_RGD_ID:9589091 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:5520 head and neck squamous cell carcinoma susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNP,haplotype:promoter:-149C>T,-579G>T(human) PMID:18455294|REF_RGD_ID:9589078 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:612 primary immunodeficiency disease ISO RGD:1606037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17908720 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:630 genetic disease ISO RGD:1606037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24577265|PMID:27479843|PMID:28492532|PMID:31686314 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:6705 gastric body carcinoma ISO RGD:1606037 D RGD:9068941 20200609 RGD PMID:20127025|REF_RGD_ID:9589084 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:684 hepatocellular carcinoma ISO RGD:1303274 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:11844796|REF_RGD_ID:2289670 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:684 hepatocellular carcinoma ISO RGD:1606037 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:15885882|REF_RGD_ID:9588598 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:7148 rheumatoid arthritis disease_progression ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-283C>T(human) PMID:19777235|REF_RGD_ID:9589110 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:1606037 D RGD:9068941 20200609 RGD PMID:11222358|REF_RGD_ID:9588667 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:8923 skin melanoma disease_progression ISO RGD:1606037 D RGD:9068941 20200609 RGD PMID:21081840|REF_RGD_ID:9589074 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1606037 D RGD:9068941 20200609 RGD mRNA:decreased expression:mononuclear cell PMID:18683034|REF_RGD_ID:9588662 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:8924 autoimmune thrombocytopenic purpura susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNP:promoter: -579G>T(human) PMID:23000068|REF_RGD_ID:9589094 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9000081 Lymphatic Metastasis ISO RGD:1606037 D RGD:9068941 20200609 RGD associated with Carcinoma, Pancreatic Ductal; PMID:22919364|REF_RGD_ID:9589121 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9000217 Stomach Neoplasms ISO RGD:1606037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21458988 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9000965 Neoplasm Metastasis ISO RGD:1606037 D RGD:9068941 20200609 RGD associated with Uterine Cervical Neoplasms; PMID:22330137|REF_RGD_ID:9589117 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9001030 Multiple Primary Neoplasms treatment ISO RGD:1606037 D RGD:9068941 20200609 RGD associated with Head and Neck Neoplasms;DNA:SNP: :149C>T(rs2424913)(human) PMID:22009713|REF_RGD_ID:9589077 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1606037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:28492532|PMID:29255178 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9002013 Facioscapulohumeral Muscular Dystrophy 4 ISO RGD:1606037 D RGD:7240710 20210825 OMIM 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9002013 Facioscapulohumeral Muscular Dystrophy 4 ISO RGD:1606037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 4, digenic PMID:27153398|PMID:28492532 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1606037 D RGD:9068941 20200609 RGD mRNA:decreased expression: B cell PMID:15467427|REF_RGD_ID:9589146 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9002231 Fetal Growth Retardation ISO RGD:1303274 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland: PMID:24717552|REF_RGD_ID:9590296 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16012746 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9003036 Oral Lichen Planus ISO RGD:1606037 D RGD:9068941 20200609 RGD protein:increased expression:mouth mucosa: PMID:22236544|REF_RGD_ID:9589075 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9003036 Oral Lichen Planus susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:polymorphism: :C46359T(human) PMID:22236544|REF_RGD_ID:9589075 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1606037 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix: PMID:22330137|REF_RGD_ID:9589117 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9003373 Uterine Cervical Neoplasms susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNP: :46359C>T(human) PMID:23677709|REF_RGD_ID:9589114 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1606037 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:uterus: PMID:15721400|REF_RGD_ID:9588596 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:1303274 D RGD:9068941 20200609 RGD PMID:24447120|REF_RGD_ID:9588304 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9005539 Familial Prostate Cancer ISO RGD:1606037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9007456 Female Infertility ISO RGD:1606037 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34773530 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9007715 Endometrial Neoplasms ISO RGD:1606037 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:uterus: PMID:15721400|REF_RGD_ID:9588596 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNP: :rs406193(human) PMID:19843671|REF_RGD_ID:9589147 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-579G>T(human) PMID:18662374|REF_RGD_ID:9589079 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9008644 Dysmenorrhea ISO RGD:1606037 D RGD:9068941 20200609 RGD protein:increased expression:ectopic endometrium: PMID:22572543|REF_RGD_ID:9588664 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1606037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17908720 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9008939 Breast Neoplasms ISO RGD:1606037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18221536|PMID:22520950 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9119 acute myeloid leukemia ISO RGD:1606037 D RGD:9068941 20200609 RGD mRNA:increased expression:CD34+ bone marrow cells PMID:11222358|REF_RGD_ID:9588667 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1606037 D RGD:9068941 20200609 RGD PMID:23251566|REF_RGD_ID:9589071 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNP:promoter: C>T46359(human) PMID:16194411|REF_RGD_ID:9589108 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :rs1569686,rs2424908, rs6087990, rs6119954(human) PMID:24069326|REF_RGD_ID:9589103 12248903 DNMT3B DNA methyltransferase 3 beta gene DOID:9744 type 1 diabetes mellitus ISO RGD:1606037 D RGD:9068941 20200609 RGD mRNA:increased expression:CD4+ T cell: PMID:21864931|REF_RGD_ID:9589109 12248935 ARHGAP27 Rho GTPase activating protein 27 gene DOID:630 genetic disease ISO RGD:1346833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248951 SLC35G6 solute carrier family 35 member G6 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1345092 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12248951 SLC35G6 solute carrier family 35 member G6 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1345092 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12248951 SLC35G6 solute carrier family 35 member G6 gene DOID:1059 intellectual disability ISO RGD:1345092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12248951 SLC35G6 solute carrier family 35 member G6 gene DOID:12177 common variable immunodeficiency ISO RGD:1345092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12248951 SLC35G6 solute carrier family 35 member G6 gene DOID:2729 dyskeratosis congenita ISO RGD:1345092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12248951 SLC35G6 solute carrier family 35 member G6 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1345092 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12248951 SLC35G6 solute carrier family 35 member G6 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1345092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12248951 SLC35G6 solute carrier family 35 member G6 gene DOID:630 genetic disease ISO RGD:1345092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248963 RIOK3 RIO kinase 3 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1321961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 12248963 RIOK3 RIO kinase 3 gene DOID:1059 intellectual disability ISO RGD:1321961 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12248963 RIOK3 RIO kinase 3 gene DOID:630 genetic disease ISO RGD:1321961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248984 KLK13 kallikrein related peptidase 13 gene DOID:10283 prostate cancer ISO RGD:1319630 D RGD:9068941 20200609 RGD protein:decreased expression:prostate PMID:12970725|REF_RGD_ID:2314865 12248984 KLK13 kallikrein related peptidase 13 gene DOID:4001 ovarian carcinoma ISO RGD:1319630 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:19707197|REF_RGD_ID:2314862 12248984 KLK13 kallikrein related peptidase 13 gene DOID:630 genetic disease ISO RGD:1319630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12248998 MIR488 microRNA mir-488 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1603781 D RGD:9068941 20220224 RGD mRNA:decreased expression:ovary (human) PMID:32271408|REF_RGD_ID:151356992 12248998 MIR488 microRNA mir-488 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1603781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 12249015 FANCF FA complementation group F gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1345063 D RGD:9068941 20200609 RGD mRNA:decreased expression:tongue: PMID:17409780|REF_RGD_ID:11049143 12249015 FANCF FA complementation group F gene DOID:0111088 Fanconi anemia complementation group F ISO RGD:1345063 D RGD:7240710 20180130 OMIM 12249015 FANCF FA complementation group F gene DOID:0111088 Fanconi anemia complementation group F ISO RGD:1345063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group F PMID:10615118|PMID:11063725|PMID:12649160|PMID:15262960|PMID:16084127|PMID:16774934|PMID:17082180|PMID:17924555|PMID:18271933|PMID:22778927|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26033879|PMID:27714961|PMID:28102861|PMID:28259476|PMID:28492532|PMID:28678401|PMID:29368431|PMID:29625052|PMID:30256826|PMID:30262796|PMID:30680046|PMID:30995915|PMID:31288759|PMID:31882575|PMID:34117267|PMID:9382107 12249015 FANCF FA complementation group F gene DOID:1059 intellectual disability ISO RGD:1345063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12249015 FANCF FA complementation group F gene DOID:13636 Fanconi anemia ISO RGD:1345063 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:10615118|PMID:16084127|PMID:16774934|PMID:17924555|PMID:18271933|PMID:24728327|PMID:25741868|PMID:27714961|PMID:28259476|PMID:28492532|PMID:30256826|PMID:30262796|PMID:30995915|PMID:31882575|PMID:34117267|PMID:9382107 12249015 FANCF FA complementation group F gene DOID:13636 Fanconi anemia ISO RGD:1345063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:10615118|PMID:11063725|PMID:12649160|PMID:15262960|PMID:16084127|PMID:16774934|PMID:17082180|PMID:17924555|PMID:18271933|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26033879|PMID:27714961|PMID:28102861|PMID:28259476|PMID:28492532|PMID:28678401|PMID:29368431|PMID:29625052|PMID:30256826|PMID:30262796|PMID:30680046|PMID:30995915|PMID:31882575|PMID:34117267|PMID:9382107 12249015 FANCF FA complementation group F gene DOID:14566 disease of cellular proliferation susceptibility ISO RGD:2290337 D RGD:9068941 20200609 RGD PMID:21915857|REF_RGD_ID:11049141 12249015 FANCF FA complementation group F gene DOID:1612 breast cancer ISO RGD:1345063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:24728327|PMID:25741868|PMID:28492532 12249015 FANCF FA complementation group F gene DOID:2394 ovarian cancer ISO RGD:1345063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:28492532 12249015 FANCF FA complementation group F gene DOID:2999 granulosa cell tumor disease_progression ISO RGD:1345063 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:15574200|REF_RGD_ID:2298508 12249015 FANCF FA complementation group F gene DOID:2999 granulosa cell tumor susceptibility ISO RGD:2290337 D RGD:9068941 20200609 RGD PMID:21915857|REF_RGD_ID:11049141 12249015 FANCF FA complementation group F gene DOID:4943 adenocarcinoma in situ disease_progression ISO RGD:1345063 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:14647419|REF_RGD_ID:11049137 12249015 FANCF FA complementation group F gene DOID:5426 primary ovarian insufficiency ISO RGD:2290337 D RGD:9068941 20220825 MouseDO OMIM:300510 | OMIM:300511 | OMIM:300604 | OMIM:311360 | OMIM:608996 | OMIM:611548 | OMIM:612310 | OMIM:612964 | OMIM:615723 | OMIM:615724 12249015 FANCF FA complementation group F gene DOID:630 genetic disease ISO RGD:1345063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12249015 FANCF FA complementation group F gene DOID:9002762 Ovarian Neoplasms ISO RGD:1345063 D RGD:9068941 20200609 RGD DNA, mRNA, protein:hypermethylation, decreased expression:ovary PMID:16418574|REF_RGD_ID:2290044 12249015 FANCF FA complementation group F gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1345063 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:18414472|REF_RGD_ID:2298507 12249015 FANCF FA complementation group F gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1345063 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:15126331|REF_RGD_ID:2290045 12249027 TUBB4B tubulin beta 4B class IVb gene DOID:0050777 Joubert syndrome ISO RGD:1601774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12249027 TUBB4B tubulin beta 4B class IVb gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1601774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12249027 TUBB4B tubulin beta 4B class IVb gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1601774 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12249027 TUBB4B tubulin beta 4B class IVb gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1601774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12249027 TUBB4B tubulin beta 4B class IVb gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1601774 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12249027 TUBB4B tubulin beta 4B class IVb gene DOID:0081097 Rafiq syndrome ISO RGD:1601774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12249027 TUBB4B tubulin beta 4B class IVb gene DOID:0112240 Leber congenital amaurosis with early-onset deafness ISO RGD:1601774 D RGD:7240710 20190315 OMIM 12249027 TUBB4B tubulin beta 4B class IVb gene DOID:0112240 Leber congenital amaurosis with early-onset deafness ISO RGD:1601774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis with early-onset deafness PMID:25741868|PMID:29198720 12249027 TUBB4B tubulin beta 4B class IVb gene DOID:1826 epilepsy ISO RGD:1601774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12249027 TUBB4B tubulin beta 4B class IVb gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1601774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12249027 TUBB4B tubulin beta 4B class IVb gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1601774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12249076 SHC3 SHC adaptor protein 3 gene DOID:630 genetic disease ISO RGD:737159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249076 SHC3 SHC adaptor protein 3 gene DOID:9005834 Ependymomas ISO RGD:737159 D RGD:9068941 20200609 RGD DNA:amplification:brain: PMID:19748727|REF_RGD_ID:13782069 12249092 CCDC124 coiled-coil domain containing 124 gene DOID:630 genetic disease ISO RGD:1605304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249092 CCDC124 coiled-coil domain containing 124 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1605304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12249101 GPC6 glypican 6 gene DOID:0060288 omodysplasia ISO RGD:1352914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Omodysplasia 12249101 GPC6 glypican 6 gene DOID:0080844 omodysplasia 1 ISO RGD:1352914 D RGD:7240710 20180130 OMIM 12249101 GPC6 glypican 6 gene DOID:0080844 omodysplasia 1 ISO RGD:1352914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive omodysplasia PMID:19481194|PMID:25741868|PMID:28492532 12249101 GPC6 glypican 6 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1352914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 12249101 GPC6 glypican 6 gene DOID:11476 osteoporosis ISO RGD:1352914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869591 12249101 GPC6 glypican 6 gene DOID:630 genetic disease ISO RGD:1352914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12249101 GPC6 glypican 6 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1352914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12249101 GPC6 glypican 6 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1352914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19481194 12249101 GPC6 glypican 6 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1352914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19481194 12249117 STK4 serine/threonine kinase 4 gene DOID:2234 focal epilepsy ISO RGD:1323808 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12249117 STK4 serine/threonine kinase 4 gene DOID:3312 bipolar disorder ISO RGD:1323808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12249117 STK4 serine/threonine kinase 4 gene DOID:612 primary immunodeficiency disease ISO RGD:1323808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:22174160|PMID:25741868|PMID:28492532 12249117 STK4 serine/threonine kinase 4 gene DOID:627 severe combined immunodeficiency ISO RGD:1323808 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 12249117 STK4 serine/threonine kinase 4 gene DOID:630 genetic disease ISO RGD:1323808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12249117 STK4 serine/threonine kinase 4 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1323808 D RGD:7240710 20180130 OMIM 12249117 STK4 serine/threonine kinase 4 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1323808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MST1 DEFICIENCY | ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:16199547|PMID:17576681|PMID:22174160|PMID:22294732|PMID:25741868|PMID:26801501|PMID:28492532|PMID:9536098 12249132 VPS33A VPS33A core subunit of CORVET and HOPS complexes gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:731827 D RGD:9068941 20220825 MouseDO 12249132 VPS33A VPS33A core subunit of CORVET and HOPS complexes gene DOID:630 genetic disease ISO RGD:731826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12249132 VPS33A VPS33A core subunit of CORVET and HOPS complexes gene DOID:9006933 Mucopolysaccharidosis-Plus Syndrome ISO RGD:731826 D RGD:7240710 20190315 OMIM 12249132 VPS33A VPS33A core subunit of CORVET and HOPS complexes gene DOID:9006933 Mucopolysaccharidosis-Plus Syndrome ISO RGD:731826 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis-plus syndrome PMID:25741868|PMID:27547915|PMID:28013294|PMID:28492532|PMID:31070736 12249149 PLEKHG6 pleckstrin homology and RhoGEF domain containing G6 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1605382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12249149 PLEKHG6 pleckstrin homology and RhoGEF domain containing G6 gene DOID:630 genetic disease ISO RGD:1605382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249149 PLEKHG6 pleckstrin homology and RhoGEF domain containing G6 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12249172 PCBP1 poly(rC) binding protein 1 gene DOID:0080600 COVID-19 ISO RGD:1353218 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 12249172 PCBP1 poly(rC) binding protein 1 gene DOID:0080600 COVID-19 ISO RGD:1561319 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD8+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 12249172 PCBP1 poly(rC) binding protein 1 gene DOID:630 genetic disease ISO RGD:1353218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249172 PCBP1 poly(rC) binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12249172 PCBP1 poly(rC) binding protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1353218 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35639300 12249177 VWDE von Willebrand factor D and EGF domains gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2299987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12249177 VWDE von Willebrand factor D and EGF domains gene DOID:630 genetic disease ISO RGD:2299987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249221 C23H3orf33 chromosome 23 C3orf33 homolog gene DOID:630 genetic disease ISO RGD:1605242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249232 ZDHHC16 zinc finger DHHC-type palmitoyltransferase 16 gene DOID:630 genetic disease ISO RGD:1604262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249251 ESRP1 epithelial splicing regulatory protein 1 gene DOID:0111639 autosomal recessive nonsyndromic deafness 109 ISO RGD:1606552 D RGD:7240710 20190315 OMIM 12249251 ESRP1 epithelial splicing regulatory protein 1 gene DOID:0111639 autosomal recessive nonsyndromic deafness 109 ISO RGD:1606552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 109 PMID:25741868|PMID:29107558 12249251 ESRP1 epithelial splicing regulatory protein 1 gene DOID:630 genetic disease ISO RGD:1606552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249270 MYOM3 myomesin 3 gene DOID:630 genetic disease ISO RGD:1320744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249270 MYOM3 myomesin 3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1320744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12249270 MYOM3 myomesin 3 gene DOID:9006836 Contracture ISO RGD:1320744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 12249312 UROS uroporphyrinogen III synthase gene DOID:13271 cutaneous porphyria ISO RGD:1321278 D RGD:7240710 20180130 OMIM 12249312 UROS uroporphyrinogen III synthase gene DOID:13271 cutaneous porphyria ISO RGD:1321278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous porphyria PMID:11254675|PMID:12060141|PMID:15065102|PMID:15304101|PMID:16365260|PMID:16532394|PMID:1733834|PMID:1737856|PMID:19099412|PMID:19965637|PMID:21343304|PMID:21365124|PMID:21570665|PMID:21631301|PMID:22816431|PMID:2331520|PMID:23557135|PMID:23626549|PMID:25092523|PMID:25741868|PMID:27859603|PMID:28492532|PMID:30685241|PMID:30706587|PMID:31843562|PMID:34828434|PMID:7616657|PMID:7860775|PMID:8821859|PMID:8829650|PMID:8946173|PMID:9188670|PMID:9803266|PMID:9834209 12249312 UROS uroporphyrinogen III synthase gene DOID:13271 cutaneous porphyria susceptibility ISO RGD:1310396 D RGD:9068941 20200609 RGD DNA:missense mutations,SNP,deletion:cds,introns:multiple PMID:30454868|REF_RGD_ID:18937001 12249312 UROS uroporphyrinogen III synthase gene DOID:13271 cutaneous porphyria susceptibility ISO RGD:1321278 D RGD:9068941 20200609 RGD DNA:missense mutations,SNP,deletion:cds,introns:multiple PMID:30454868|REF_RGD_ID:18937001 12249312 UROS uroporphyrinogen III synthase gene DOID:13271 cutaneous porphyria susceptibility ISO RGD:1321279 D RGD:9068941 20200609 RGD DNA:missense mutations,SNP,deletion:cds,introns:multiple PMID:30454868|REF_RGD_ID:18937001 12249312 UROS uroporphyrinogen III synthase gene DOID:630 genetic disease ISO RGD:1321278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249331 FAM53A family with sequence similarity 53 member A gene DOID:1856 cherubism ISO RGD:1604984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12249331 FAM53A family with sequence similarity 53 member A gene DOID:630 genetic disease ISO RGD:1604984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249348 PNMA8B PNMA family member 8B gene DOID:630 genetic disease ISO RGD:2290513 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249363 KCNC3 potassium voltage-gated channel subfamily C member 3 gene DOID:0050963 spinocerebellar ataxia type 13 ISO RGD:733063 D RGD:7240710 20211222 OMIM 12249363 KCNC3 potassium voltage-gated channel subfamily C member 3 gene DOID:0050963 spinocerebellar ataxia type 13 ISO RGD:733063 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 13 PMID:10820125|PMID:16135769|PMID:16501573|PMID:18592334|PMID:19953606|PMID:20712895|PMID:21479265|PMID:21543613|PMID:22289912|PMID:22736459|PMID:22933745|PMID:23215817|PMID:23734863|PMID:23912307|PMID:24116147|PMID:25152487|PMID:25497598|PMID:25741868|PMID:25756792|PMID:25981959|PMID:26442672|PMID:26467025|PMID:28216058|PMID:28467418|PMID:28492532|PMID:30862666|PMID:32644043 12249363 KCNC3 potassium voltage-gated channel subfamily C member 3 gene DOID:630 genetic disease ISO RGD:733063 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19953606|PMID:21479265|PMID:21543613|PMID:22289912|PMID:23734863|PMID:25741868|PMID:25756792|PMID:26442672|PMID:26467025|PMID:28216058|PMID:28467418|PMID:28492532|PMID:30862666|PMID:32644043 12249369 RHOQ ras homolog family member Q gene DOID:3883 Lynch syndrome ISO RGD:1345983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12249369 RHOQ ras homolog family member Q gene DOID:630 genetic disease ISO RGD:1345983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249369 RHOQ ras homolog family member Q gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345983 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12249390 NMI N-myc and STAT interactor gene DOID:0080600 COVID-19 ISO RGD:1323327 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12249390 NMI N-myc and STAT interactor gene DOID:630 genetic disease ISO RGD:1323327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249390 NMI N-myc and STAT interactor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12249406 ING1 inhibitor of growth family member 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1314890 D RGD:9068941 20200609 RGD squamous cell carcinoma of the head and neck, OMIM:275355 DNA:point_mutation:CDS:G->C in exon 2, amino acid cys215ser PMID:10866301|REF_RGD_ID:1600155 12249406 ING1 inhibitor of growth family member 1 gene DOID:2222 factor X deficiency ISO RGD:1314890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12249406 ING1 inhibitor of growth family member 1 gene DOID:2773 contact dermatitis ISO RGD:1314890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12249406 ING1 inhibitor of growth family member 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1314890 D RGD:7240710 20180130 OMIM 12249406 ING1 inhibitor of growth family member 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1314890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:10866301 12249406 ING1 inhibitor of growth family member 1 gene DOID:630 genetic disease ISO RGD:1314890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249406 ING1 inhibitor of growth family member 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1314890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12249406 ING1 inhibitor of growth family member 1 gene DOID:9000918 Disease Progression ISO RGD:1314890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12249406 ING1 inhibitor of growth family member 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1314890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12249412 FABP5 fatty acid binding protein 5 gene DOID:10283 prostate cancer ISO RGD:736313 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate (human) PMID:16489065|REF_RGD_ID:1578462 12249412 FABP5 fatty acid binding protein 5 gene DOID:630 genetic disease ISO RGD:736313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249412 FABP5 fatty acid binding protein 5 gene DOID:684 hepatocellular carcinoma ISO RGD:736313 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12249412 FABP5 fatty acid binding protein 5 gene DOID:8893 psoriasis ISO RGD:736313 D RGD:9068941 20200609 RGD mRNA:increased expression:skin (human) PMID:16283139|REF_RGD_ID:1578463 12249412 FABP5 fatty acid binding protein 5 gene DOID:9007102 Myocardial Ischemia ISO RGD:736313 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12249421 IGDCC3 immunoglobulin superfamily DCC subclass member 3 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1316476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12249421 IGDCC3 immunoglobulin superfamily DCC subclass member 3 gene DOID:2717 Bloom syndrome ISO RGD:1316476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12249421 IGDCC3 immunoglobulin superfamily DCC subclass member 3 gene DOID:630 genetic disease ISO RGD:1316476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249421 IGDCC3 immunoglobulin superfamily DCC subclass member 3 gene DOID:9256 colorectal cancer ISO RGD:1316476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12249439 ANXA7 annexin A7 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:731625 D RGD:9068941 20200609 RGD protein:decreased expression:lymph node PMID:17708571|REF_RGD_ID:2292654 12249439 ANXA7 annexin A7 gene DOID:10283 prostate cancer ISO RGD:731625 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:17708571|REF_RGD_ID:2292654 12249439 ANXA7 annexin A7 gene DOID:1612 breast cancer disease_progression ISO RGD:731625 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15073110|REF_RGD_ID:2292655 12249439 ANXA7 annexin A7 gene DOID:234 colon adenocarcinoma ISO RGD:731625 D RGD:9068941 20200609 RGD protein:decreased expression:colon PMID:17708571|REF_RGD_ID:2292654 12249439 ANXA7 annexin A7 gene DOID:2394 ovarian cancer ISO RGD:731625 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:17708571|REF_RGD_ID:2292654 12249439 ANXA7 annexin A7 gene DOID:4159 skin cancer ISO RGD:731625 D RGD:9068941 20200609 RGD protein:decreased expression:skin PMID:17708571|REF_RGD_ID:2292654 12249439 ANXA7 annexin A7 gene DOID:630 genetic disease ISO RGD:731625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249439 ANXA7 annexin A7 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731625 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:breast PMID:15073110|REF_RGD_ID:2292655 12249439 ANXA7 annexin A7 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731625 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:decreased expression:prostate gland PMID:11287641|REF_RGD_ID:2292656 12249439 ANXA7 annexin A7 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:731625 D RGD:9068941 20200609 RGD protein:decreased expression:salivary gland PMID:17708571|REF_RGD_ID:2292654 12249439 ANXA7 annexin A7 gene DOID:9007188 Liver Neoplasms ISO RGD:731625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 12249458 DHX9 DExH-box helicase 9 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1318384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12249458 DHX9 DExH-box helicase 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1318384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12249458 DHX9 DExH-box helicase 9 gene DOID:630 genetic disease ISO RGD:1318384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249458 DHX9 DExH-box helicase 9 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1318384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12249458 DHX9 DExH-box helicase 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:731380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:17576681|PMID:20362274|PMID:20818383|PMID:22019070|PMID:23217327|PMID:23806086|PMID:24088041|PMID:25583628|PMID:25590979|PMID:25741868|PMID:25934856|PMID:25986071|PMID:26173962|PMID:26257172|PMID:26467025|PMID:27102849|PMID:28492532|PMID:28842795|PMID:28888069|PMID:28967629|PMID:28975462|PMID:29625556|PMID:31523922|PMID:31850270|PMID:32376792|PMID:33146414|PMID:3856385|PMID:9536098 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:731380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:25741868|PMID:25986071|PMID:28492532|PMID:31850270 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:731381 D RGD:9068941 20220825 MouseDO OMIM:252010 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:0060786 hypomyelinating leukodystrophy ISO RGD:731380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy PMID:25741868|PMID:28842795 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:731380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:24357419|PMID:28492532 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 ISO RGD:731380 D RGD:7240710 20180130 OMIM 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 ISO RGD:731380 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 PMID:20362274|PMID:20818383|PMID:22019070|PMID:23217327|PMID:23806086|PMID:24088041|PMID:25583628|PMID:25590979|PMID:25741868|PMID:25934856|PMID:25986071|PMID:26173962|PMID:26257172|PMID:27102849|PMID:28492532|PMID:28842795|PMID:28967629|PMID:31523922|PMID:32376792|PMID:3856385 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:731380 D RGD:9068941 20200609 RGD mRNA:increased expression:left ventricle: PMID:19332114|REF_RGD_ID:10053590 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:731380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:0111502 combined oxidative phosphorylation deficiency 6 ISO RGD:731380 D RGD:7240710 20180130 OMIM 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:0111502 combined oxidative phosphorylation deficiency 6 ISO RGD:731380 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy PMID:20362274|PMID:22019070|PMID:25583628|PMID:25741868|PMID:26173962|PMID:26467025|PMID:28492532 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:0111741 X-linked deafness 5 ISO RGD:731380 D RGD:7240710 20180130 OMIM 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:0111741 X-linked deafness 5 ISO RGD:731380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5 PMID:16816020|PMID:25741868|PMID:25986071|PMID:28492532|PMID:31850270 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:10003 sensorineural hearing loss ISO RGD:731380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25590979|PMID:25741868|PMID:28492532|PMID:28967629|PMID:31523922 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:10283 prostate cancer ISO RGD:731380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:10579 leukodystrophy ISO RGD:731380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:25741868|PMID:28842795 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:10584 retinitis pigmentosa treatment ISO RGD:620817 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:23951212|REF_RGD_ID:10053563 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:1059 intellectual disability ISO RGD:731380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:731380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:26467025|PMID:28492532 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:10652 Alzheimer's disease ISO RGD:731380 D RGD:9068941 20200609 RGD protein:increased expression:basal forebrain,amygdala: PMID:22536549|REF_RGD_ID:10053593 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:10652 Alzheimer's disease ISO RGD:731381 D RGD:9068941 20200609 RGD protein:increased expression:cortex,nucleus: PMID:24915960|REF_RGD_ID:10053592 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:12849 autistic disorder ISO RGD:731380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:12858 Huntington's disease ISO RGD:731380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12930891 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:224 transient cerebral ischemia ISO RGD:620817 D RGD:9068941 20200609 RGD mRNA:decreased expression, altered localization:CA1 pyramidal layer, nucleus: PMID:14526224|REF_RGD_ID:10047409 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:224 transient cerebral ischemia ISO RGD:731381 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:15087715|REF_RGD_ID:10053562 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:620817 D RGD:9068941 20200609 RGD protein:altered localization: : PMID:15181376|REF_RGD_ID:10047403 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:5327 retinal detachment ISO RGD:620817 D RGD:9068941 20200609 RGD protein:altered localization:photoreceptor,nucleus: PMID:11290545|REF_RGD_ID:10047408 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:5327 retinal detachment ISO RGD:731380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18497877 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:574 peripheral nervous system disease ISO RGD:731380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:630 genetic disease ISO RGD:731380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20362274|PMID:20818383|PMID:22019070|PMID:23217327|PMID:25583628|PMID:25741868|PMID:25934856|PMID:25986071|PMID:26173962|PMID:27102849|PMID:28492532|PMID:28842795|PMID:32376792|PMID:3856385|PMID:9536098 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:870 neuropathy ISO RGD:731380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:9000068 X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy ISO RGD:731380 D RGD:7240710 20191211 OMIM 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:9000068 X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy ISO RGD:731380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy PMID:10486082|PMID:16924009|PMID:23239615|PMID:25741868|PMID:27102849|PMID:28492532|PMID:28842795 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:9000998 Brain Injuries ISO RGD:620817 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:12091479|REF_RGD_ID:10053567 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:9002408 Sketetal Dysplasia Coarse Facies Mental Retardation ISO RGD:731380 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia X-linked with mental deterioration PMID:10486082|PMID:16924009|PMID:23239615|PMID:25741868|PMID:27102849|PMID:28492532|PMID:28842795 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620817 D RGD:9068941 20200609 RGD PMID:28108258|REF_RGD_ID:13524865 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620817 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:12871572|REF_RGD_ID:10053564 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:9004953 Diabetic Cystopathy ISO RGD:620817 D RGD:9068941 20200609 RGD protein:increased expression:nuclei: PMID:20879002|REF_RGD_ID:10053565 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23499715 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:9005749 Necrosis ISO RGD:731380 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16532269 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25743375 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620817 D RGD:9068941 20200609 RGD protein:decreased expression:mitochondrion: PMID:23685150|REF_RGD_ID:10053560 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731381 D RGD:9068941 20200609 RGD PMID:23685150|REF_RGD_ID:10053560 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:9008824 Sarcopenia severity ISO RGD:620817 D RGD:9068941 20200609 RGD RNA:increased expression:plantaris muscle: PMID:17029665|REF_RGD_ID:2325745 12249493 AIFM1 apoptosis inducing factor mitochondria associated 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23499715 12249517 ARHGAP25 Rho GTPase activating protein 25 gene DOID:630 genetic disease ISO RGD:1351716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249536 CALCR calcitonin receptor gene DOID:11476 osteoporosis ISO RGD:731272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 15 PMID:9003491|PMID:9571205|PMID:9817931 12249536 CALCR calcitonin receptor gene DOID:11476 osteoporosis susceptibility ISO RGD:731272 D RGD:7240710 20230505 OMIM 12249536 CALCR calcitonin receptor gene DOID:12678 hypercalcemia ISO RGD:731272 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18627265 12249536 CALCR calcitonin receptor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12249536 CALCR calcitonin receptor gene DOID:630 genetic disease ISO RGD:731272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249536 CALCR calcitonin receptor gene DOID:9003870 Herpes Simplex Encephalitis treatment ISO RGD:621001 D RGD:9068941 20200609 RGD PMID:22761571|REF_RGD_ID:7240516 12249554 TTC29 tetratricopeptide repeat domain 29 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1605320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 12249554 TTC29 tetratricopeptide repeat domain 29 gene DOID:0111923 spermatogenic failure 42 ISO RGD:1605320 D RGD:7240710 20200226 OMIM 12249554 TTC29 tetratricopeptide repeat domain 29 gene DOID:0111923 spermatogenic failure 42 ISO RGD:1605320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 42 PMID:31735292|PMID:31735294 12249554 TTC29 tetratricopeptide repeat domain 29 gene DOID:630 genetic disease ISO RGD:1605320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249574 FASTK Fas activated serine/threonine kinase gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1605699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 12249574 FASTK Fas activated serine/threonine kinase gene DOID:2843 long QT syndrome ISO RGD:1605699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 12249574 FASTK Fas activated serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1605699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249597 SFRP4 secreted frizzled related protein 4 gene DOID:0080019 metaphyseal dysplasia ISO RGD:1350997 D RGD:7240710 20190315 OMIM 12249597 SFRP4 secreted frizzled related protein 4 gene DOID:0080019 metaphyseal dysplasia ISO RGD:1350997 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pyle metaphyseal dysplasia PMID:25741868|PMID:27355534|PMID:28492532|PMID:33193738 12249597 SFRP4 secreted frizzled related protein 4 gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1350997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:28492532 12249597 SFRP4 secreted frizzled related protein 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12249597 SFRP4 secreted frizzled related protein 4 gene DOID:5119 ovarian cyst ISO RGD:1350997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12249597 SFRP4 secreted frizzled related protein 4 gene DOID:630 genetic disease ISO RGD:1350997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12249597 SFRP4 secreted frizzled related protein 4 gene DOID:9002457 Experimental Arthritis ISO RGD:1350997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194984 12249597 SFRP4 secreted frizzled related protein 4 gene DOID:9007102 Myocardial Ischemia ISO RGD:621075 D RGD:9068941 20200609 RGD PMID:20528676|REF_RGD_ID:4107721 12249597 SFRP4 secreted frizzled related protein 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923031 12249597 SFRP4 secreted frizzled related protein 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23140642 12249607 DDX49 DEAD-box helicase 49 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1322415 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 12249607 DDX49 DEAD-box helicase 49 gene DOID:630 genetic disease ISO RGD:1322415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249607 DDX49 DEAD-box helicase 49 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1322415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12249624 FKBP8 FKBP prolyl isomerase 8 gene DOID:0080016 spina bifida ISO RGD:1318579 D RGD:9068941 20220825 MouseDO 12249624 FKBP8 FKBP prolyl isomerase 8 gene DOID:11836 clubfoot ISO RGD:1318579 D RGD:9068941 20220825 MouseDO OMIM:119800 12249624 FKBP8 FKBP prolyl isomerase 8 gene DOID:630 genetic disease ISO RGD:1318578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249624 FKBP8 FKBP prolyl isomerase 8 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1318578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12249624 FKBP8 FKBP prolyl isomerase 8 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1318578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12249640 GRK3 G protein-coupled receptor kinase 3 gene DOID:10763 hypertension ISO RGD:2063 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle, kidney (rat) PMID:26248277|REF_RGD_ID:11535540 12249640 GRK3 G protein-coupled receptor kinase 3 gene DOID:14330 Parkinson's disease ISO RGD:2063 D RGD:9068941 20200609 RGD protein:decreased expression:caudate putamen (rat) PMID:17996024|REF_RGD_ID:5685370 12249640 GRK3 G protein-coupled receptor kinase 3 gene DOID:1459 hypothyroidism ISO RGD:2063 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:19728039|REF_RGD_ID:5685027 12249640 GRK3 G protein-coupled receptor kinase 3 gene DOID:3312 bipolar disorder ISO RGD:730840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12808434 12249640 GRK3 G protein-coupled receptor kinase 3 gene DOID:3312 bipolar disorder ISO RGD:730840 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:frontal cortex (human) PMID:19400979|REF_RGD_ID:5685029 12249640 GRK3 G protein-coupled receptor kinase 3 gene DOID:6000 congestive heart failure severity ISO RGD:730840 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle (human) PMID:22685168|REF_RGD_ID:13506835 12249640 GRK3 G protein-coupled receptor kinase 3 gene DOID:630 genetic disease ISO RGD:730840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249640 GRK3 G protein-coupled receptor kinase 3 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2063 D RGD:9068941 20200609 RGD PMID:23196710|REF_RGD_ID:13792785 12249640 GRK3 G protein-coupled receptor kinase 3 gene DOID:9003936 Cardiomegaly ISO RGD:2063 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle (rat) PMID:20677219|REF_RGD_ID:5685025 12249640 GRK3 G protein-coupled receptor kinase 3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730840 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex (human) PMID:23727505|REF_RGD_ID:13792719 12249664 CROCC ciliary rootlet coiled-coil, rootletin gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1313346 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12249664 CROCC ciliary rootlet coiled-coil, rootletin gene DOID:5426 primary ovarian insufficiency ISO RGD:1313346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12249664 CROCC ciliary rootlet coiled-coil, rootletin gene DOID:630 genetic disease ISO RGD:1313346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12249705 STBD1 starch binding domain 1 gene DOID:630 genetic disease ISO RGD:1604058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249705 STBD1 starch binding domain 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1604058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 12249705 STBD1 starch binding domain 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1604058 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12249711 SAMD7 sterile alpha motif domain containing 7 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1318984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 12249711 SAMD7 sterile alpha motif domain containing 7 gene DOID:1062 Fanconi syndrome ISO RGD:1318984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 12249711 SAMD7 sterile alpha motif domain containing 7 gene DOID:630 genetic disease ISO RGD:1318984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249734 H4C11 H4 clustered histone 11 gene DOID:9005356 Tessadori-van Haaften Neurodevelopmental Syndrome 1 ISO RGD:1315785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tessadori-van Haaften neurodevelopmental syndrome 1 PMID:28920961 12249734 H4C11 H4 clustered histone 11 gene DOID:9006660 Tessadori-van Haaften Neurodevelopmental Syndrome 2 ISO RGD:1315785 D RGD:7240710 20220330 OMIM 12249734 H4C11 H4 clustered histone 11 gene DOID:9006660 Tessadori-van Haaften Neurodevelopmental Syndrome 2 ISO RGD:1315785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tessadori-van Haaften neurodevelopmental syndrome 2 PMID:31804630 12249738 ELK4 ETS transcription factor ELK4 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1321444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12249738 ELK4 ETS transcription factor ELK4 gene DOID:12849 autistic disorder ISO RGD:1321444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12249738 ELK4 ETS transcription factor ELK4 gene DOID:1540 parathyroid carcinoma ISO RGD:1321444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12249738 ELK4 ETS transcription factor ELK4 gene DOID:630 genetic disease ISO RGD:1321444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249738 ELK4 ETS transcription factor ELK4 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1321444 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12249738 ELK4 ETS transcription factor ELK4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12249746 ESM1 endothelial cell specific molecule 1 gene DOID:630 genetic disease ISO RGD:737594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249746 ESM1 endothelial cell specific molecule 1 gene DOID:684 hepatocellular carcinoma ISO RGD:737594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12249746 ESM1 endothelial cell specific molecule 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12249746 ESM1 endothelial cell specific molecule 1 gene DOID:9007188 Liver Neoplasms ISO RGD:737594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12249753 CXCR5 C-X-C motif chemokine receptor 5 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1345690 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12249753 CXCR5 C-X-C motif chemokine receptor 5 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1345690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12249753 CXCR5 C-X-C motif chemokine receptor 5 gene DOID:0080690 RASopathy ISO RGD:1345690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12249753 CXCR5 C-X-C motif chemokine receptor 5 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1345690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12249753 CXCR5 C-X-C motif chemokine receptor 5 gene DOID:0110651 long QT syndrome 10 ISO RGD:1345690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12249753 CXCR5 C-X-C motif chemokine receptor 5 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1345690 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12249753 CXCR5 C-X-C motif chemokine receptor 5 gene DOID:0111971 immunodeficiency 18 ISO RGD:1345690 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12249753 CXCR5 C-X-C motif chemokine receptor 5 gene DOID:0111972 immunodeficiency 19 ISO RGD:1345690 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12249753 CXCR5 C-X-C motif chemokine receptor 5 gene DOID:0111973 immunodeficiency 17 ISO RGD:1345690 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12249753 CXCR5 C-X-C motif chemokine receptor 5 gene DOID:12236 primary biliary cholangitis ISO RGD:1345690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 12249753 CXCR5 C-X-C motif chemokine receptor 5 gene DOID:630 genetic disease ISO RGD:1345690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249753 CXCR5 C-X-C motif chemokine receptor 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12249753 CXCR5 C-X-C motif chemokine receptor 5 gene DOID:9007661 Dwarfism ISO RGD:1345690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12249759 KCTD5 potassium channel tetramerization domain containing 5 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312748 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12249759 KCTD5 potassium channel tetramerization domain containing 5 gene DOID:1826 epilepsy ISO RGD:1312748 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12249759 KCTD5 potassium channel tetramerization domain containing 5 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312748 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12249759 KCTD5 potassium channel tetramerization domain containing 5 gene DOID:630 genetic disease ISO RGD:1312748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249769 MMP28 matrix metallopeptidase 28 gene DOID:630 genetic disease ISO RGD:1323102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249784 PPM1L protein phosphatase, Mg2+/Mn2+ dependent 1L gene DOID:630 genetic disease ISO RGD:1313118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249784 PPM1L protein phosphatase, Mg2+/Mn2+ dependent 1L gene DOID:9970 obesity ISO RGD:1313118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18344982 12249792 VCPKMT valosin containing protein lysine methyltransferase gene DOID:0050574 L-2-hydroxyglutaric aciduria ISO RGD:1314724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria PMID:15385440 12249792 VCPKMT valosin containing protein lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1314724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249792 VCPKMT valosin containing protein lysine methyltransferase gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314724 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12249802 XKRX XK related X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12249802 XKRX XK related X-linked gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1345703 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 12249802 XKRX XK related X-linked gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1345703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 12249802 XKRX XK related X-linked gene DOID:12849 autistic disorder ISO RGD:1345703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12249802 XKRX XK related X-linked gene DOID:630 genetic disease ISO RGD:1345703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249802 XKRX XK related X-linked gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1345703 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 12249809 DUSP15 dual specificity phosphatase 15 gene DOID:630 genetic disease ISO RGD:1314347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249833 LXN latexin gene DOID:1909 melanoma ISO RGD:737325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 12249833 LXN latexin gene DOID:630 genetic disease ISO RGD:737325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249833 LXN latexin gene DOID:9003882 Chromosomal Instability ISO RGD:737325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25341047 12249843 CER1 cerberus 1, DAN family BMP antagonist gene DOID:630 genetic disease ISO RGD:1347243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249843 CER1 cerberus 1, DAN family BMP antagonist gene DOID:9002407 Spinal Fractures susceptibility ISO RGD:1347243 D RGD:9068941 20200716 RGD DNA:SNPs: :rs3747532, rs1494360(human) PMID:19113921|REF_RGD_ID:35673321 12249847 C20H19orf25 chromosome 20 C19orf25 homolog gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1352315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 12249847 C20H19orf25 chromosome 20 C19orf25 homolog gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1352315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12249847 C20H19orf25 chromosome 20 C19orf25 homolog gene DOID:5339 cyclic hematopoiesis ISO RGD:1352315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12249847 C20H19orf25 chromosome 20 C19orf25 homolog gene DOID:630 genetic disease ISO RGD:1352315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249847 C20H19orf25 chromosome 20 C19orf25 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12249854 BNC2 basonuclin 2 gene DOID:2187 amelogenesis imperfecta ISO RGD:1321747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta 12249854 BNC2 basonuclin 2 gene DOID:630 genetic disease ISO RGD:1321747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12249854 BNC2 basonuclin 2 gene DOID:674 cleft palate ISO RGD:1321747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19706529 12249854 BNC2 basonuclin 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1321747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20852632 12249854 BNC2 basonuclin 2 gene DOID:9006024 Hypotension ISO RGD:1321747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotension PMID:24033266|PMID:28492532 12249854 BNC2 basonuclin 2 gene DOID:9007386 Congenital Lower Urinary Tract Obstruction ISO RGD:1321747 D RGD:7240710 20191113 OMIM 12249854 BNC2 basonuclin 2 gene DOID:9007386 Congenital Lower Urinary Tract Obstruction ISO RGD:1321747 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital PMID:25741868|PMID:28492532|PMID:31051115 12249854 BNC2 basonuclin 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1321747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19706529 12249886 CRYBB3 crystallin beta B3 gene DOID:0110268 cataract 22 multiple types ISO RGD:733594 D RGD:7240710 20180130 OMIM 12249886 CRYBB3 crystallin beta B3 gene DOID:0110268 cataract 22 multiple types ISO RGD:733594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 22 multiple types | ClinVar Annotator: match by term: Cataract, congenital nuclear, autosomal recessive 2 PMID:15914629|PMID:19182255|PMID:23508780|PMID:24940039|PMID:25640679|PMID:25741868|PMID:26694549|PMID:27307692|PMID:28492532|PMID:32830442|PMID:33510601|PMID:34014271|PMID:34356085 12249886 CRYBB3 crystallin beta B3 gene DOID:630 genetic disease ISO RGD:733594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12249886 CRYBB3 crystallin beta B3 gene DOID:83 cataract ISO RGD:733594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract | ClinVar Annotator: match by term: Congenital nuclear cataract PMID:15914629|PMID:25741868|PMID:26694549|PMID:28492532 12249895 IDUA alpha-L-iduronidase gene DOID:0060222 Scheie syndrome ISO RGD:1322129 D RGD:7240710 20180207 OMIM 12249895 IDUA alpha-L-iduronidase gene DOID:0060222 Scheie syndrome ISO RGD:1322129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE V | ClinVar Annotator: match by term: Scheie Syndrome PMID:10215409|PMID:10607946|PMID:10738517|PMID:10911525|PMID:11159948|PMID:11735025|PMID:11903343|PMID:12203999|PMID:12509712|PMID:12559846|PMID:1301196|PMID:1301941|PMID:14559116|PMID:1505961|PMID:15300847|PMID:1550122|PMID:15862278|PMID:16435195|PMID:16438163|PMID:18796143|PMID:19396826|PMID:19748810|PMID:19751987|PMID:19839758|PMID:20301341|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21521498|PMID:21639919|PMID:2170400|PMID:21831683|PMID:22074387|PMID:22306676|PMID:22976768|PMID:23786846|PMID:23837464|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24102521|PMID:24314423|PMID:24368159|PMID:24480078|PMID:24698225|PMID:24798265|PMID:24875751|PMID:2522450|PMID:25741868|PMID:26825088|PMID:27146977|PMID:27196898|PMID:27511503|PMID:27896125|PMID:28492532|PMID:28676128|PMID:28752568|PMID:29393969|PMID:29654546|PMID:30809705|PMID:31194252|PMID:31319225|PMID:32188113|PMID:33073008|PMID:33517895|PMID:4112371|PMID:4221470|PMID:7550232|PMID:7550242|PMID:7951228|PMID:8019563|PMID:8213840|PMID:8318992|PMID:8401515|PMID:8664897|PMID:8680403|PMID:9427149|PMID:9748610|PMID:9787109 12249895 IDUA alpha-L-iduronidase gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:1322129 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:25741868|PMID:27125215|PMID:27210743|PMID:27238910|PMID:27939258|PMID:28492532|PMID:32432561 12249895 IDUA alpha-L-iduronidase gene DOID:0111389 mucopolysaccharidosis Ih/s ISO RGD:1322129 D RGD:7240710 20191030 OMIM 12249895 IDUA alpha-L-iduronidase gene DOID:0111389 mucopolysaccharidosis Ih/s ISO RGD:1322129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S PMID:10215409|PMID:10466419|PMID:10735634|PMID:10738517|PMID:10911525|PMID:11159948|PMID:11735025|PMID:12189649|PMID:12203999|PMID:12509712|PMID:12559846|PMID:1301196|PMID:1301941|PMID:14559116|PMID:1505961|PMID:15300847|PMID:15521993|PMID:15862278|PMID:16199547|PMID:16435195|PMID:16435211|PMID:16438163|PMID:17570076|PMID:17576681|PMID:18796143|PMID:19396826|PMID:19748810|PMID:19751987|PMID:19839758|PMID:20301341|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21521498|PMID:21624210|PMID:21639919|PMID:21734815|PMID:21831683|PMID:22074387|PMID:22306676|PMID:22976768|PMID:23084433|PMID:23786846|PMID:23837464|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24102521|PMID:24314423|PMID:24368159|PMID:24480078|PMID:24698225|PMID:24798265|PMID:24875751|PMID:25741868|PMID:26260077|PMID:26825088|PMID:27146977|PMID:27196898|PMID:27511503|PMID:27520059|PMID:27896125|PMID:28492532|PMID:28676128|PMID:28752568|PMID:29282708|PMID:29393969|PMID:29654546|PMID:29801497|PMID:30093709|PMID:30442156|PMID:30809705|PMID:31194252|PMID:32188113|PMID:32432561|PMID:33073008|PMID:33098355|PMID:33301762|PMID:33517895|PMID:4221470|PMID:7550232|PMID:7550242|PMID:7951228|PMID:8019563|PMID:8213840|PMID:8328452|PMID:8401515|PMID:8664897|PMID:8680403|PMID:9391892|PMID:9427149|PMID:9536098|PMID:9748610|PMID:9787109 12249895 IDUA alpha-L-iduronidase gene DOID:0111390 mucopolysaccharidosis Ih ISO RGD:1322129 D RGD:7240710 20191030 OMIM 12249895 IDUA alpha-L-iduronidase gene DOID:0111390 mucopolysaccharidosis Ih ISO RGD:1322129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome | ClinVar Annotator: match by term: Hurler syndrome | ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH PMID:10215409|PMID:10466419|PMID:10607946|PMID:10735634|PMID:10738517|PMID:10911525|PMID:11159948|PMID:11735025|PMID:11903343|PMID:12189649|PMID:12203999|PMID:12509712|PMID:12559846|PMID:12796790|PMID:1301196|PMID:1301941|PMID:14516901|PMID:14559116|PMID:1505961|PMID:15081804|PMID:15300847|PMID:1550122|PMID:15521993|PMID:15862278|PMID:16188808|PMID:16199547|PMID:16435195|PMID:16435211|PMID:16438163|PMID:17570076|PMID:17576681|PMID:17606547|PMID:18463126|PMID:18792977|PMID:18796143|PMID:19396826|PMID:19748810|PMID:19751987|PMID:19839758|PMID:20217237|PMID:20301341|PMID:21253827|PMID:21393040|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21521498|PMID:21624210|PMID:21639919|PMID:2170400|PMID:21734815|PMID:21831683|PMID:21963080|PMID:22074387|PMID:22306676|PMID:22976768|PMID:23084433|PMID:23210910|PMID:23430557|PMID:23430803|PMID:23465405|PMID:23786846|PMID:23837464|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24102521|PMID:24314423|PMID:24368159|PMID:24480078|PMID:24698225|PMID:24767253|PMID:24798265|PMID:24875751|PMID:25009127|PMID:25098213|PMID:2522450|PMID:25256405|PMID:25525159|PMID:25557439|PMID:25558755|PMID:25614311|PMID:25741868|PMID:26825088|PMID:27146977|PMID:27196898|PMID:27238910|PMID:27392569|PMID:27511503|PMID:27520059|PMID:27843123|PMID:27896125|PMID:27939258|PMID:28302345|PMID:28492532|PMID:28676128|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:29143201|PMID:29282708|PMID:29393969|PMID:29620724|PMID:29654546|PMID:29801497|PMID:29843745|PMID:29906569|PMID:29976218|PMID:30083803|PMID:30442156|PMID:30809705|PMID:30903511|PMID:31133280|PMID:31194252|PMID:31236806|PMID:31298590|PMID:31678774|PMID:32188113|PMID:32432561|PMID:33073008|PMID:33301762|PMID:33517895|PMID:33686258|PMID:4112371|PMID:4221470|PMID:6821579|PMID:7550232|PMID:7550242|PMID:7951228|PMID:8019563|PMID:8019572|PMID:8213840|PMID:8318992|PMID:8328452|PMID:8401515|PMID:8477267|PMID:8554071|PMID:8664897|PMID:8680403|PMID:9391892|PMID:9427149|PMID:9536098|PMID:9748610|PMID:9787109 12249895 IDUA alpha-L-iduronidase gene DOID:10754 otitis media ISO RGD:1322130 D RGD:9068941 20220825 MouseDO OMIM:166760 12249895 IDUA alpha-L-iduronidase gene DOID:10808 gastric ulcer ISO RGD:1310943 D RGD:9068941 20200609 RGD PMID:3713687|REF_RGD_ID:12910841 12249895 IDUA alpha-L-iduronidase gene DOID:12798 mucopolysaccharidosis ISO RGD:1322129 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IDUA pseudodeficiency PMID:25741868|PMID:28492532|PMID:8554071 12249895 IDUA alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I IAGP D RGD:12801476 20230208 OMIA Mucopolysaccharidosis I PMID:2493739|PMID:2503461|PMID:2150744|PMID:1551868|PMID:1339393|PMID:7809150|PMID:8704199|PMID:8864760|PMID:9696001|PMID:10068662|PMID:10395377|PMID:12396614|PMID:15464431|PMID:20044292|PMID:18707908|PMID:17519893|PMID:19712579|PMID:19562502|PMID:18654672|PMID:20655780|PMID:20930106|PMID:21749451|PMID:21436264|PMID:21383673|PMID:21139569|PMID:21123810|PMID:23582423|PMID:23563357|PMID:6215865|PMID:26475483|PMID:27064989|PMID:26986213|PMID:26222335|PMID:26022732|PMID:27386755|PMID:28695759|PMID:32189222|PMID:32219101|PMID:32300136|PMID:32330426|PMID:32785987|PMID:31062371|PMID:32780955|PMID:34695616|PMID:36709534|PMID:36601751 12249895 IDUA alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I ISO RGD:1322129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency | ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 PMID:10215409|PMID:10466419|PMID:10607946|PMID:10735634|PMID:10738517|PMID:10911525|PMID:11159948|PMID:11555618|PMID:11735025|PMID:11903343|PMID:12189649|PMID:12203999|PMID:12509712|PMID:12559846|PMID:12796790|PMID:1301196|PMID:1301941|PMID:14516901|PMID:14559116|PMID:1505961|PMID:15081804|PMID:15300847|PMID:1550122|PMID:15521993|PMID:15862278|PMID:16188808|PMID:16199547|PMID:1627351|PMID:16435195|PMID:16435211|PMID:16438163|PMID:17407067|PMID:17570076|PMID:17576681|PMID:17606547|PMID:18463126|PMID:18792977|PMID:18796143|PMID:19396826|PMID:19748810|PMID:19751987|PMID:19839758|PMID:20026495|PMID:20217237|PMID:20301341|PMID:21176924|PMID:21253827|PMID:21364962|PMID:21393040|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21521498|PMID:21624210|PMID:21639919|PMID:2170400|PMID:21734815|PMID:21831683|PMID:21963080|PMID:22074387|PMID:22306676|PMID:22976768|PMID:23084433|PMID:23430557|PMID:23430803|PMID:23465405|PMID:23757202|PMID:23786846|PMID:23837464|PMID:23959878|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24102521|PMID:24314423|PMID:24368159|PMID:24480078|PMID:24698225|PMID:24767253|PMID:24781210|PMID:24798265|PMID:24875751|PMID:25009127|PMID:25098213|PMID:25102484|PMID:2522450|PMID:25256405|PMID:25525159|PMID:25557439|PMID:25558755|PMID:25614311|PMID:25741868|PMID:26260077|PMID:26825088|PMID:27146977|PMID:27196898|PMID:27238910|PMID:27392569|PMID:27511503|PMID:27520059|PMID:27766162|PMID:27843123|PMID:27896125|PMID:27939258|PMID:28302345|PMID:28492532|PMID:28676128|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:29140481|PMID:29143201|PMID:29282708|PMID:29393969|PMID:29620724|PMID:29654546|PMID:29705972|PMID:29801497|PMID:29843745|PMID:29906569|PMID:29947050|PMID:29976218|PMID:30083803|PMID:30093709|PMID:30442156|PMID:30755342|PMID:30809705|PMID:30903511|PMID:31133280|PMID:31194252|PMID:31236806|PMID:31298590|PMID:31319022|PMID:31341245|PMID:31386236|PMID:31400021|PMID:31678774|PMID:31758674|PMID:32188113|PMID:32432561|PMID:32670797|PMID:33073008|PMID:33098355|PMID:33198351|PMID:33301762|PMID:33517895|PMID:33686258|PMID:34148116|PMID:4112371|PMID:4221470|PMID:6821579|PMID:7550232|PMID:7550242|PMID:7951228|PMID:8019563|PMID:8019572|PMID:8213840|PMID:8318992|PMID:8328452|PMID:8401515|PMID:8477267|PMID:8554071|PMID:8664897|PMID:8680403|PMID:9391892|PMID:9427149|PMID:9536098|PMID:9748610|PMID:9787109 12249895 IDUA alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I treatment ISO RGD:1322129 D RGD:9068941 20200609 RGD PMID:12948739|PMID:15126990|PMID:15128896|PMID:15194053|PMID:17407189|PMID:18523448|PMID:24100243|PMID:25597593|REF_RGD_ID:12910497|REF_RGD_ID:12910499|REF_RGD_ID:12910502|REF_RGD_ID:12910503|REF_RGD_ID:12910510|REF_RGD_ID:12910716|REF_RGD_ID:12910719|REF_RGD_ID:12910720 12249895 IDUA alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I treatment ISO RGD:1322130 D RGD:9068941 20200609 RGD PMID:21667973|REF_RGD_ID:12910508 12249895 IDUA alpha-L-iduronidase gene DOID:1856 cherubism ISO RGD:1322129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12249895 IDUA alpha-L-iduronidase gene DOID:2978 carbohydrate metabolic disorder ISO RGD:1322129 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormality of mucopolysaccharide metabolism PMID:11735025|PMID:21176924|PMID:21480867|PMID:25741868|PMID:28492532|PMID:30755342|PMID:7550242 12249895 IDUA alpha-L-iduronidase gene DOID:3082 interstitial lung disease ISO RGD:1322129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial pneumonitis PMID:10215409|PMID:11159948|PMID:11735025|PMID:1301941|PMID:1505961|PMID:18796143|PMID:19396826|PMID:21394825|PMID:21480867|PMID:21831683|PMID:22976768|PMID:23786846|PMID:24033266|PMID:24314423|PMID:24368159|PMID:25741868|PMID:28492532|PMID:28752568|PMID:29393969|PMID:7951228|PMID:8401515|PMID:9427149|PMID:9787109 12249895 IDUA alpha-L-iduronidase gene DOID:585 nephrolithiasis ISO RGD:1322129 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis | ClinVar Annotator: match by term: Calcium oxalate urolithiasis PMID:25741868|PMID:27125215|PMID:27210743|PMID:27238910|PMID:27939258|PMID:28492532|PMID:32432561 12249895 IDUA alpha-L-iduronidase gene DOID:630 genetic disease ISO RGD:1322129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:10738517|PMID:10911525|PMID:11735025|PMID:12559846|PMID:1301196|PMID:1301941|PMID:16435195|PMID:19748810|PMID:21394825|PMID:21480867|PMID:21521498|PMID:21639919|PMID:22074387|PMID:23465405|PMID:23786846|PMID:24036510|PMID:24102521|PMID:24368159|PMID:24480078|PMID:24798265|PMID:25741868|PMID:27146977|PMID:27196898|PMID:28492532|PMID:28676128|PMID:28752568|PMID:30903511|PMID:33686258|PMID:7951228 12249895 IDUA alpha-L-iduronidase gene DOID:630 genetic disease ISO RGD:1322129 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:10738517|PMID:10911525|PMID:11735025|PMID:12559846|PMID:1301196|PMID:1301941|PMID:15300847|PMID:16435195|PMID:19748810|PMID:21394825|PMID:21521498|PMID:21639919|PMID:22074387|PMID:23465405|PMID:23786846|PMID:24036510|PMID:24102521|PMID:24368159|PMID:24480078|PMID:24798265|PMID:25741868|PMID:27146977|PMID:27196898|PMID:27843123|PMID:27939258|PMID:28492532|PMID:28676128|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:30903511|PMID:33686258|PMID:7951228 12249895 IDUA alpha-L-iduronidase gene DOID:630 genetic disease ISO RGD:1322129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10215409|PMID:10738517|PMID:10911525|PMID:11735025|PMID:12509712|PMID:12559846|PMID:1301196|PMID:1301941|PMID:15300847|PMID:16435195|PMID:16438163|PMID:19748810|PMID:19751987|PMID:20301341|PMID:21394825|PMID:21480867|PMID:21521498|PMID:21639919|PMID:22074387|PMID:22976768|PMID:23465405|PMID:23786846|PMID:24033266|PMID:24036510|PMID:24102521|PMID:24368159|PMID:24480078|PMID:24698225|PMID:24798265|PMID:25741868|PMID:26825088|PMID:27146977|PMID:27196898|PMID:27511503|PMID:27843123|PMID:27939258|PMID:28492532|PMID:28676128|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:29393969|PMID:29654546|PMID:30809705|PMID:30903511|PMID:31194252|PMID:33073008|PMID:33517895|PMID:33686258|PMID:4221470|PMID:7951228|PMID:8680403 12249895 IDUA alpha-L-iduronidase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1310943 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:6875476|REF_RGD_ID:12910840 12249895 IDUA alpha-L-iduronidase gene DOID:9001793 Generalized Epilepsy ISO RGD:1322129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 12249895 IDUA alpha-L-iduronidase gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1322129 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 12249928 OR8K1 olfactory receptor family 8 subfamily K member 1 gene DOID:1059 intellectual disability ISO RGD:1347124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12249928 OR8K1 olfactory receptor family 8 subfamily K member 1 gene DOID:630 genetic disease ISO RGD:1347124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249938 TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1606198 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 12249938 TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 gene DOID:14701 propionic acidemia ISO RGD:1606198 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 12249938 TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 gene DOID:4621 holoprosencephaly ISO RGD:1606198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 12249938 TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 gene DOID:630 genetic disease ISO RGD:1606198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12249938 TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1606198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12249938 TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 gene DOID:9007853 Worster-Drought Syndrome ISO RGD:1606198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Worster-Drought syndrome PMID:24375697 12250008 LOC106558995 zinc finger protein 347-like gene DOID:630 genetic disease ISO RGD:2301111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250032 DCDC1 doublecortin domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1351849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12250032 DCDC1 doublecortin domain containing 1 gene DOID:11934 head and neck cancer ISO RGD:1351849 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Head and neck cancer PMID:28492532|PMID:32266149 12250032 DCDC1 doublecortin domain containing 1 gene DOID:12271 aniridia ISO RGD:1351849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 12250032 DCDC1 doublecortin domain containing 1 gene DOID:3764 Denys-Drash syndrome ISO RGD:1351849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Drash syndrome PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28492532 12250032 DCDC1 doublecortin domain containing 1 gene DOID:630 genetic disease ISO RGD:1351849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250032 DCDC1 doublecortin domain containing 1 gene DOID:9002455 Aniridia 1 ISO RGD:1351849 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aniridia 1 PMID:10737978|PMID:11284764|PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28231309|PMID:28492532 12250068 VWA2 von Willebrand factor A domain containing 2 gene DOID:9620 vesicoureteral reflux ISO RGD:1603244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vesicoureteral reflux PMID:29351342 12250088 CORO2A coronin 2A gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1320210 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 12250088 CORO2A coronin 2A gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1320210 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 12250088 CORO2A coronin 2A gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1320210 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 12250088 CORO2A coronin 2A gene DOID:1059 intellectual disability ISO RGD:1320210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12250088 CORO2A coronin 2A gene DOID:12712 nephronophthisis ISO RGD:1320210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 12250088 CORO2A coronin 2A gene DOID:14004 thoracic aortic aneurysm ISO RGD:1320210 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 12250088 CORO2A coronin 2A gene DOID:2661 myoepithelioma ISO RGD:1320210 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12250088 CORO2A coronin 2A gene DOID:630 genetic disease ISO RGD:1320210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250088 CORO2A coronin 2A gene DOID:9001793 Generalized Epilepsy ISO RGD:1320210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 12250113 KIF3C kinesin family member 3C gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:731540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12250113 KIF3C kinesin family member 3C gene DOID:0060224 atrial fibrillation ISO RGD:731540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12250113 KIF3C kinesin family member 3C gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:731540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12250113 KIF3C kinesin family member 3C gene DOID:630 genetic disease ISO RGD:731540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250129 ABHD6 abhydrolase domain containing 6, acylglycerol lipase gene DOID:630 genetic disease ISO RGD:1351429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250129 ABHD6 abhydrolase domain containing 6, acylglycerol lipase gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1351429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 12250142 SLC12A8 solute carrier family 12 member 8 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1345509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12250142 SLC12A8 solute carrier family 12 member 8 gene DOID:630 genetic disease ISO RGD:1345509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250142 SLC12A8 solute carrier family 12 member 8 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1345509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 12250142 SLC12A8 solute carrier family 12 member 8 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1345509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12250142 SLC12A8 solute carrier family 12 member 8 gene DOID:9270 alkaptonuria ISO RGD:1345509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12250159 SLAMF8 SLAM family member 8 gene DOID:0050589 inflammatory bowel disease ISO RGD:1314782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28067908 12250159 SLAMF8 SLAM family member 8 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1314782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12250159 SLAMF8 SLAM family member 8 gene DOID:1540 parathyroid carcinoma ISO RGD:1314782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12250159 SLAMF8 SLAM family member 8 gene DOID:630 genetic disease ISO RGD:1314782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250159 SLAMF8 SLAM family member 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12250166 LOC490269 complement receptor type 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1603411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 12250166 LOC490269 complement receptor type 2 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1603411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 12250166 LOC490269 complement receptor type 2 gene DOID:10652 Alzheimer's disease ISO RGD:1603411 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:19734903|PMID:21460841 12250166 LOC490269 complement receptor type 2 gene DOID:12365 malaria ISO RGD:1603411 D RGD:7240710 20230505 OMIM 12250166 LOC490269 complement receptor type 2 gene DOID:12365 malaria ISO RGD:1603411 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malaria, severe, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10528197|PMID:14694201|PMID:20855594|PMID:25741868 12250166 LOC490269 complement receptor type 2 gene DOID:12849 autistic disorder ISO RGD:1603411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12250166 LOC490269 complement receptor type 2 gene DOID:14067 Plasmodium falciparum malaria ISO RGD:1603411 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:11724985|PMID:9230440 12250166 LOC490269 complement receptor type 2 gene DOID:1459 hypothyroidism ISO RGD:1603411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:25741868 12250166 LOC490269 complement receptor type 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1603411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12250166 LOC490269 complement receptor type 2 gene DOID:630 genetic disease ISO RGD:1603411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250166 LOC490269 complement receptor type 2 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1603411 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:30503753 12250166 LOC490269 complement receptor type 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1603411 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12250166 LOC490269 complement receptor type 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12250198 SNX6 sorting nexin 6 gene DOID:630 genetic disease ISO RGD:1312208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250198 SNX6 sorting nexin 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1312208 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12250216 NCF1 neutrophil cytosolic factor 1 gene DOID:0070192 autosomal recessive chronic granulomatous disease 1 ISO RGD:1348698 D RGD:7240710 20180130 OMIM 12250216 NCF1 neutrophil cytosolic factor 1 gene DOID:0070192 autosomal recessive chronic granulomatous disease 1 ISO RGD:1348698 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF1 DEFICIENCY | ClinVar Annotator: match by term: p47-PHOX DEFICIENCY PMID:11133775|PMID:11433300|PMID:11920901|PMID:16972229|PMID:24446915|PMID:25741868|PMID:33746979|PMID:742630|PMID:7678602 12250216 NCF1 neutrophil cytosolic factor 1 gene DOID:0070194 autosomal recessive chronic granulomatous disease 3 ISO RGD:1348698 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III PMID:11920901|PMID:24446915|PMID:25741868|PMID:33746979 12250216 NCF1 neutrophil cytosolic factor 1 gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1348698 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CYTOCHROME b-NEGATIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED PMID:25741868 12250216 NCF1 neutrophil cytosolic factor 1 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1348698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 12250216 NCF1 neutrophil cytosolic factor 1 gene DOID:10763 hypertension ISO RGD:1348698 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:16331104|PMID:17324946|PMID:19018797|PMID:32165127 12250216 NCF1 neutrophil cytosolic factor 1 gene DOID:10825 essential hypertension ISO RGD:1348698 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 12250216 NCF1 neutrophil cytosolic factor 1 gene DOID:10941 intracranial aneurysm ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381132 12250216 NCF1 neutrophil cytosolic factor 1 gene DOID:12894 Sjogren's syndrome ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28135245 12250216 NCF1 neutrophil cytosolic factor 1 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1348698 D RGD:9068941 20200609 RGD DNA:deletion PMID:16532385|REF_RGD_ID:1624399 12250216 NCF1 neutrophil cytosolic factor 1 gene DOID:3265 chronic granulomatous disease ISO RGD:1348698 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chronic granulomatous disease PMID:11920901|PMID:24446915|PMID:25741868|PMID:33746979 12250216 NCF1 neutrophil cytosolic factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12250216 NCF1 neutrophil cytosolic factor 1 gene DOID:630 genetic disease ISO RGD:1348698 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250216 NCF1 neutrophil cytosolic factor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524|PMID:28135245 12250216 NCF1 neutrophil cytosolic factor 1 gene DOID:7148 rheumatoid arthritis induced ISO XCO:0000263 D RGD:9068941 20210212 RGD DNA:polymorphism:M153T (rat) PMID:21275845|REF_RGD_ID:41404729 12250216 NCF1 neutrophil cytosolic factor 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16864727 12250216 NCF1 neutrophil cytosolic factor 1 gene DOID:783 end stage renal disease ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 12250216 NCF1 neutrophil cytosolic factor 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14871415 12250216 NCF1 neutrophil cytosolic factor 1 gene DOID:9002395 Hypothermia ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30366073 12250216 NCF1 neutrophil cytosolic factor 1 gene DOID:9002457 Experimental Arthritis severity ISO RGD:61307 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.M106V, p.M153T (rat) PMID:12461526|REF_RGD_ID:628543 12250216 NCF1 neutrophil cytosolic factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14871415|PMID:16380483 12250216 NCF1 neutrophil cytosolic factor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21742780 12250216 NCF1 neutrophil cytosolic factor 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28135245 12250216 NCF1 neutrophil cytosolic factor 1 gene DOID:9351 diabetes mellitus ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23723366 12250231 COMMD9 COMM domain containing 9 gene DOID:0080600 COVID-19 ISO RGD:1317050 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12250231 COMMD9 COMM domain containing 9 gene DOID:1059 intellectual disability ISO RGD:1317050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12250231 COMMD9 COMM domain containing 9 gene DOID:630 genetic disease ISO RGD:1317050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250241 GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1606107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12250241 GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1606107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12250241 GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 gene DOID:0111420 familial GPIHBP1 deficiency ISO RGD:1606107 D RGD:7240710 20180130 OMIM 12250241 GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 gene DOID:0111420 familial GPIHBP1 deficiency ISO RGD:1606107 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia, type 1D PMID:19304573|PMID:20026666|PMID:20124439|PMID:21478160|PMID:21816778|PMID:22239554|PMID:23806086|PMID:24088041|PMID:24614124|PMID:25387803|PMID:25741868|PMID:28492532|PMID:30352774|PMID:31153847|PMID:33223529 12250241 GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 gene DOID:4621 holoprosencephaly ISO RGD:1606107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12250241 GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 gene DOID:630 genetic disease ISO RGD:1606107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250249 FECH ferrochelatase gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1316819 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 12250249 FECH ferrochelatase gene DOID:0111988 immunodeficiency 12 ISO RGD:1316819 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 12250249 FECH ferrochelatase gene DOID:13270 erythropoietic protoporphyria ISO RGD:1316819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10464147|PMID:12950064|PMID:15284838|PMID:15793285|PMID:17600043|PMID:29906468 12250249 FECH ferrochelatase gene DOID:13270 erythropoietic protoporphyria ISO RGD:1316819 D RGD:9068941 20200609 RGD DNA:mutation:introns:IVS3-48C(human) PMID:26280465|REF_RGD_ID:14700883 12250249 FECH ferrochelatase gene DOID:13270 erythropoietic protoporphyria ISO RGD:1316819 D RGD:9068941 20200609 RGD DNA:mutations:exons: PMID:10942404|REF_RGD_ID:14700886 12250249 FECH ferrochelatase gene DOID:13270 erythropoietic protoporphyria ISO RGD:1316819 D RGD:9068941 20200609 RGD DNA:mutations:introns:IVS-48C,IVS1-23T(human) PMID:26789144|REF_RGD_ID:11556165 12250249 FECH ferrochelatase gene DOID:13270 erythropoietic protoporphyria ISO RGD:1316820 D RGD:9068941 20200609 RGD PMID:19787086|REF_RGD_ID:14700889 12250249 FECH ferrochelatase gene DOID:13270 erythropoietic protoporphyria ISO RGD:1316820 D RGD:9068941 20220825 MouseDO OMIM:177000 | OMIM:300752 12250249 FECH ferrochelatase gene DOID:13271 cutaneous porphyria ISO RGD:1316819 D RGD:9068941 20200609 RGD DNA:transitions, frameshift mutations:exon:multiple (human) PMID:8601739|REF_RGD_ID:1598932 12250249 FECH ferrochelatase gene DOID:13271 cutaneous porphyria ISO RGD:1316819 D RGD:9068941 20200609 RGD protein:decreased activity:skin fibroblast, liver (human) PMID:1184741|REF_RGD_ID:4145285 12250249 FECH ferrochelatase gene DOID:234 colon adenocarcinoma ISO RGD:1316819 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon PMID:28075030|REF_RGD_ID:14700888 12250249 FECH ferrochelatase gene DOID:4138 bile duct disease ISO RGD:1316819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10464147 12250249 FECH ferrochelatase gene DOID:630 genetic disease ISO RGD:1316819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12250249 FECH ferrochelatase gene DOID:9000784 Fibrosis ISO RGD:1316819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10464147 12250249 FECH ferrochelatase gene DOID:9004435 Erythropoietic Protoporphyria 1 ISO RGD:1316819 D RGD:7240710 20190327 OMIM 12250249 FECH ferrochelatase gene DOID:9004435 Erythropoietic Protoporphyria 1 ISO RGD:1316819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Increased erythrocyte protoporphyrin concentration | ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 PMID:10431482|PMID:10942404|PMID:11753383|PMID:12063482|PMID:12601550|PMID:1376018|PMID:14669009|PMID:15286165|PMID:15574461|PMID:16199547|PMID:16385445|PMID:16844398|PMID:16958804|PMID:17196862|PMID:1729699|PMID:1755842|PMID:17576681|PMID:17711525|PMID:17875872|PMID:18758989|PMID:18787536|PMID:19298273|PMID:20105171|PMID:23016163|PMID:23364466|PMID:24033266|PMID:25741868|PMID:26280465|PMID:28054335|PMID:28093505|PMID:28492532|PMID:29941360|PMID:3047929|PMID:31304091|PMID:3940245|PMID:7541650|PMID:7910885|PMID:8151124|PMID:8242081|PMID:8276828|PMID:8481408|PMID:8500787|PMID:8601739|PMID:9536098|PMID:9585598|PMID:9649563 12250249 FECH ferrochelatase gene DOID:9004898 Jaundice ISO RGD:1316819 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Jaundice PMID:11753383|PMID:14669009|PMID:16385445|PMID:16958804|PMID:1729699|PMID:17875872|PMID:18758989|PMID:20105171|PMID:23016163|PMID:23364466|PMID:24033266|PMID:25741868|PMID:26280465|PMID:28054335|PMID:28093505|PMID:28492532|PMID:29941360|PMID:31304091 12250249 FECH ferrochelatase gene DOID:9005584 Hepatic Porphyrias ISO RGD:1307556 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:6721832|REF_RGD_ID:4144806 12250249 FECH ferrochelatase gene DOID:9009003 Erythropoietic Protoporphyria 2 ISO RGD:1316819 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal erythropoietic protoporphyria PMID:11753383|PMID:14669009|PMID:16385445|PMID:16958804|PMID:1729699|PMID:17875872|PMID:18758989|PMID:20105171|PMID:23016163|PMID:23364466|PMID:24033266|PMID:25741868|PMID:26280465|PMID:28054335|PMID:28093505|PMID:28492532|PMID:29941360|PMID:31304091 12250263 SIRT2 sirtuin 2 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:621481 D RGD:9068941 20200609 RGD associated with Obesity PMID:22327056|REF_RGD_ID:9586049 12250263 SIRT2 sirtuin 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:733995 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12250263 SIRT2 sirtuin 2 gene DOID:3070 high grade glioma treatment ISO RGD:621481 D RGD:9068941 20200609 RGD PMID:23522375|REF_RGD_ID:9586035 12250263 SIRT2 sirtuin 2 gene DOID:3669 intermittent claudication ISO RGD:621481 D RGD:9068941 20200609 RGD associated with Spinal Stenosis;protein:decreased expression:dorsal horn of spinal cord, ventral horn of spinal cord PMID:23658678|REF_RGD_ID:9586024 12250263 SIRT2 sirtuin 2 gene DOID:630 genetic disease ISO RGD:733995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250263 SIRT2 sirtuin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733995 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12250278 TRAF1 TNF receptor associated factor 1 gene DOID:13832 patent ductus arteriosus ISO RGD:1351243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19336370 12250278 TRAF1 TNF receptor associated factor 1 gene DOID:2377 multiple sclerosis ISO RGD:1351243 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 12250278 TRAF1 TNF receptor associated factor 1 gene DOID:630 genetic disease ISO RGD:1351243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250278 TRAF1 TNF receptor associated factor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1351243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18794853|PMID:23143596 12250278 TRAF1 TNF receptor associated factor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12250278 TRAF1 TNF receptor associated factor 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:1351243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12250293 CIBAR2 CBY1 interacting BAR domain containing 2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1603858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12250293 CIBAR2 CBY1 interacting BAR domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1603858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12250293 CIBAR2 CBY1 interacting BAR domain containing 2 gene DOID:630 genetic disease ISO RGD:1603858 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250293 CIBAR2 CBY1 interacting BAR domain containing 2 gene DOID:8778 Crohn's disease ISO RGD:1603858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17435756 12250315 MRPL3 mitochondrial ribosomal protein L3 gene DOID:0111472 combined oxidative phosphorylation deficiency 9 ISO RGD:1314981 D RGD:7240710 20180130 OMIM 12250315 MRPL3 mitochondrial ribosomal protein L3 gene DOID:0111472 combined oxidative phosphorylation deficiency 9 ISO RGD:1314981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 9 PMID:21786366|PMID:25741868|PMID:27815843|PMID:28492532 12250315 MRPL3 mitochondrial ribosomal protein L3 gene DOID:630 genetic disease ISO RGD:1314981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250315 MRPL3 mitochondrial ribosomal protein L3 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1314981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12250315 MRPL3 mitochondrial ribosomal protein L3 gene DOID:9270 alkaptonuria ISO RGD:1314981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12250315 MRPL3 mitochondrial ribosomal protein L3 gene DOID:936 brain disease ISO RGD:1314981 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 12250353 CAV1 caveolin 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 12250353 CAV1 caveolin 1 gene DOID:0050440 familial partial lipodystrophy ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19793595 12250353 CAV1 caveolin 1 gene DOID:0060224 atrial fibrillation ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062060|PMID:22544366|PMID:29892015 12250353 CAV1 caveolin 1 gene DOID:0111137 congenital generalized lipodystrophy type 3 ISO RGD:619568 D RGD:7240710 20180130 OMIM 12250353 CAV1 caveolin 1 gene DOID:0111137 congenital generalized lipodystrophy type 3 ISO RGD:619568 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 3 PMID:18211975|PMID:25356970|PMID:25741868|PMID:25898808|PMID:28492532|PMID:29231014|PMID:31727138|PMID:33264630|PMID:34643546 12250353 CAV1 caveolin 1 gene DOID:10283 prostate cancer ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:11170154|REF_RGD_ID:2289112 12250353 CAV1 caveolin 1 gene DOID:10283 prostate cancer ISO RGD:619568 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14506154|REF_RGD_ID:2289109 12250353 CAV1 caveolin 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:619568 D RGD:9068941 20200609 RGD PMID:15948133|REF_RGD_ID:2289104 12250353 CAV1 caveolin 1 gene DOID:10325 silicosis ISO RGD:619568 D RGD:9068941 20230128 CTD CTD Direct Evidence: marker/mechanism PMID:36053221 12250353 CAV1 caveolin 1 gene DOID:10652 Alzheimer's disease ISO RGD:1553438 D RGD:9068941 20220825 MouseDO OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 12250353 CAV1 caveolin 1 gene DOID:1067 open-angle glaucoma ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20835238 12250353 CAV1 caveolin 1 gene DOID:1070 primary open angle glaucoma ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs4236601 (human) PMID:20835238|REF_RGD_ID:8661783 12250353 CAV1 caveolin 1 gene DOID:1070 primary open angle glaucoma ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:24572674|REF_RGD_ID:8661770 12250353 CAV1 caveolin 1 gene DOID:1070 primary open angle glaucoma no_association ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs4236601 (human) PMID:22876122|REF_RGD_ID:8661776 12250353 CAV1 caveolin 1 gene DOID:10763 hypertension ISO RGD:2280 D RGD:9068941 20200609 RGD protein:increased expression:artery smooth muscle, blood vessel endothelial cell PMID:17986358|REF_RGD_ID:2289116 12250353 CAV1 caveolin 1 gene DOID:10763 hypertension ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1798635 12250353 CAV1 caveolin 1 gene DOID:11054 urinary bladder cancer severity ISO RGD:619568 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:12866378|REF_RGD_ID:2289110 12250353 CAV1 caveolin 1 gene DOID:11446 sciatic neuropathy ISO RGD:2280 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord, blood vessel PMID:21795534|REF_RGD_ID:6784526 12250353 CAV1 caveolin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1553438 D RGD:9068941 20220825 MouseDO 12250353 CAV1 caveolin 1 gene DOID:12689 acoustic neuroma ISO RGD:619568 D RGD:9068941 20200609 RGD PMID:20881564|REF_RGD_ID:8661782 12250353 CAV1 caveolin 1 gene DOID:127 leiomyoma ISO RGD:619568 D RGD:9068941 20200609 RGD protein:increased expression:uterus PMID:17952758|REF_RGD_ID:2296031 12250353 CAV1 caveolin 1 gene DOID:13544 low tension glaucoma no_association ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs4236601 (human) PMID:23743525|REF_RGD_ID:8661774 12250353 CAV1 caveolin 1 gene DOID:13641 exfoliation syndrome no_association ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs4236601 (human) PMID:20835238|REF_RGD_ID:8661783 12250353 CAV1 caveolin 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12250353 CAV1 caveolin 1 gene DOID:1459 hypothyroidism ISO RGD:2280 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum PMID:21611807|REF_RGD_ID:6784532 12250353 CAV1 caveolin 1 gene DOID:1577 limited scleroderma no_association ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNPs:3' utr, intron: (rs9920, rs729949, rs3815412) (human) PMID:22402147|REF_RGD_ID:8661768 12250353 CAV1 caveolin 1 gene DOID:1577 limited scleroderma susceptibility ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNPs:enhancer, intron:multiple PMID:22402147|REF_RGD_ID:8661768 12250353 CAV1 caveolin 1 gene DOID:1580 diffuse scleroderma no_association ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNPs:enhancer, intron:multiple PMID:22402147|REF_RGD_ID:8661768 12250353 CAV1 caveolin 1 gene DOID:1580 diffuse scleroderma susceptibility ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNPs:intron, 3' utr: (rs729949, rs3815412, rs9920) (human) PMID:22402147|REF_RGD_ID:8661768 12250353 CAV1 caveolin 1 gene DOID:1612 breast cancer ISO RGD:1553438 D RGD:9068941 20220825 MouseDO OMIM:114480 12250353 CAV1 caveolin 1 gene DOID:1612 breast cancer ISO RGD:619568 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, breast PMID:15375584|REF_RGD_ID:2289105 12250353 CAV1 caveolin 1 gene DOID:1612 breast cancer ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNPs: :14713G>A (rs3807987), 29107T>A (rs7804372) (human) PMID:21965771|REF_RGD_ID:8661769 12250353 CAV1 caveolin 1 gene DOID:1612 breast cancer disease_progression ISO RGD:619568 D RGD:9068941 20200609 RGD PMID:21585620|REF_RGD_ID:8661766 12250353 CAV1 caveolin 1 gene DOID:1612 breast cancer no_association ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:21965771|REF_RGD_ID:8661769 12250353 CAV1 caveolin 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1553438 D RGD:9068941 20200609 RGD PMID:23267770|REF_RGD_ID:8661786 12250353 CAV1 caveolin 1 gene DOID:1909 melanoma disease_progression ISO RGD:619568 D RGD:9068941 20200609 RGD PMID:22134245|REF_RGD_ID:8661767 12250353 CAV1 caveolin 1 gene DOID:1936 atherosclerosis treatment ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:23675421|REF_RGD_ID:8662275 12250353 CAV1 caveolin 1 gene DOID:224 transient cerebral ischemia ISO RGD:1553438 D RGD:9068941 20200609 RGD PMID:22007835|REF_RGD_ID:8661794 12250353 CAV1 caveolin 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:22007835|REF_RGD_ID:8661794 12250353 CAV1 caveolin 1 gene DOID:2316 brain ischemia ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:16417587|REF_RGD_ID:1581152 12250353 CAV1 caveolin 1 gene DOID:2377 multiple sclerosis ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:repeats, haplotypes:multiple PMID:19828204|REF_RGD_ID:8661778 12250353 CAV1 caveolin 1 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:619568 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:16328005|REF_RGD_ID:2289103 12250353 CAV1 caveolin 1 gene DOID:3008 invasive ductal carcinoma no_association ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.P132L (human) PMID:21909981|REF_RGD_ID:8661779 12250353 CAV1 caveolin 1 gene DOID:3070 high grade glioma ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:22528460|REF_RGD_ID:6784517 12250353 CAV1 caveolin 1 gene DOID:3459 breast carcinoma ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.P132L (human) PMID:11289096|REF_RGD_ID:8661775 12250353 CAV1 caveolin 1 gene DOID:3459 breast carcinoma ISO RGD:619568 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17915016|REF_RGD_ID:2289101 12250353 CAV1 caveolin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1553438 D RGD:9068941 20200609 RGD PMID:18759267|REF_RGD_ID:8661773 12250353 CAV1 caveolin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:619568 D RGD:9068941 20230128 CTD CTD Direct Evidence: marker/mechanism PMID:36053221 12250353 CAV1 caveolin 1 gene DOID:4001 ovarian carcinoma ISO RGD:619568 D RGD:9068941 20200609 RGD PMID:11032026|REF_RGD_ID:2289113 12250353 CAV1 caveolin 1 gene DOID:4001 ovarian carcinoma ISO RGD:619568 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35622184 12250353 CAV1 caveolin 1 gene DOID:418 systemic scleroderma ISO RGD:619568 D RGD:9068941 20200609 RGD protein:decreased expression:lung, skin PMID:18759267|REF_RGD_ID:8661773 12250353 CAV1 caveolin 1 gene DOID:418 systemic scleroderma susceptibility ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNPs:enhancer, intron: (rs7795356, rs926198, rs959173) (human) PMID:22402147|REF_RGD_ID:8661768 12250353 CAV1 caveolin 1 gene DOID:4450 renal cell carcinoma ISO RGD:619568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:28492532 12250353 CAV1 caveolin 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:619568 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:15247769|REF_RGD_ID:2289107 12250353 CAV1 caveolin 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:619568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12250353 CAV1 caveolin 1 gene DOID:630 genetic disease ISO RGD:619568 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356970|PMID:25741868|PMID:25898808|PMID:28492532 12250353 CAV1 caveolin 1 gene DOID:6432 pulmonary hypertension ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:15353500|REF_RGD_ID:1581153 12250353 CAV1 caveolin 1 gene DOID:6432 pulmonary hypertension ISO RGD:619568 D RGD:9068941 20200609 RGD idiopathic pulmonary arterial hypertension (IPAH) PMID:17470567|REF_RGD_ID:1625360 12250353 CAV1 caveolin 1 gene DOID:6432 pulmonary hypertension treatment ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:23538027|REF_RGD_ID:8662276 12250353 CAV1 caveolin 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1553438 D RGD:9068941 20200609 RGD associated with Hypertension PMID:24329494|REF_RGD_ID:8661789 12250353 CAV1 caveolin 1 gene DOID:8398 osteoarthritis ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:16508959|REF_RGD_ID:10043354 12250353 CAV1 caveolin 1 gene DOID:8893 psoriasis ISO RGD:619568 D RGD:9068941 20200609 RGD protein:decreased expression:skin PMID:12366416|REF_RGD_ID:8661784 12250353 CAV1 caveolin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2280 D RGD:9068941 20200609 RGD protein:increased phosphorylation:spinal cord PMID:17275798|REF_RGD_ID:2289124 12250353 CAV1 caveolin 1 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:619568 D RGD:9068941 20200609 RGD associated with Melanoma PMID:22134245|REF_RGD_ID:8661767 12250353 CAV1 caveolin 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12250353 CAV1 caveolin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1553438 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:15355971|REF_RGD_ID:2289106 12250353 CAV1 caveolin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 12250353 CAV1 caveolin 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:619568 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:15334058|REF_RGD_ID:8661780 12250353 CAV1 caveolin 1 gene DOID:9001140 Lipodystrophy with Congenital Cataracts and Neurodegeneration ISO RGD:619568 D RGD:7240710 20180130 OMIM 12250353 CAV1 caveolin 1 gene DOID:9001140 Lipodystrophy with Congenital Cataracts and Neurodegeneration ISO RGD:619568 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome PMID:11739396|PMID:18211975|PMID:18237401|PMID:25356970|PMID:25741868|PMID:25898808|PMID:34643546 12250353 CAV1 caveolin 1 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:23764359|REF_RGD_ID:8662277 12250353 CAV1 caveolin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12250353 CAV1 caveolin 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:619568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:25741868|PMID:30029678 12250353 CAV1 caveolin 1 gene DOID:9002221 Hyperplasia ISO RGD:1553438 D RGD:9068941 20200609 RGD PMID:12368209|REF_RGD_ID:8661765 12250353 CAV1 caveolin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1553438 D RGD:9068941 20200609 RGD PMID:11751529|REF_RGD_ID:2289111 12250353 CAV1 caveolin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15948133|PMID:22159333 12250353 CAV1 caveolin 1 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1553438 D RGD:9068941 20200609 RGD PMID:17786030|REF_RGD_ID:2289102 12250353 CAV1 caveolin 1 gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:17060028|REF_RGD_ID:1625364 12250353 CAV1 caveolin 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15674352 12250353 CAV1 caveolin 1 gene DOID:9003936 Cardiomegaly ISO RGD:2280 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:17487232|REF_RGD_ID:2289120 12250353 CAV1 caveolin 1 gene DOID:9003936 Cardiomegaly ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17487232 12250353 CAV1 caveolin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2280 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17293479|REF_RGD_ID:2289123 12250353 CAV1 caveolin 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:24919947|REF_RGD_ID:10045573 12250353 CAV1 caveolin 1 gene DOID:9004657 Weight Gain ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12250353 CAV1 caveolin 1 gene DOID:9004874 Dermal Fibrosis ISO RGD:1553438 D RGD:9068941 20200609 RGD PMID:18759267|REF_RGD_ID:8661773 12250353 CAV1 caveolin 1 gene DOID:9005172 Lung Neoplasms ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29247004 12250353 CAV1 caveolin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1553438 D RGD:9068941 20200609 RGD protein:decreased expression:mammary gland PMID:9685399|REF_RGD_ID:2289100 12250353 CAV1 caveolin 1 gene DOID:9005233 Experimental Mammary Neoplasms onset ISO RGD:1553438 D RGD:9068941 20200609 RGD PMID:15355971|REF_RGD_ID:2289106 12250353 CAV1 caveolin 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:619568 D RGD:9068941 20200609 RGD PMID:15334058|REF_RGD_ID:8661780 12250353 CAV1 caveolin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:25086377|REF_RGD_ID:10045572 12250353 CAV1 caveolin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18266981 12250353 CAV1 caveolin 1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:2280 D RGD:9068941 20200609 RGD protein:increased phosphorylation:sciatic nerve PMID:17234162|REF_RGD_ID:2289125 12250353 CAV1 caveolin 1 gene DOID:9007702 Carcinogenesis ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29247004 12250353 CAV1 caveolin 1 gene DOID:9007888 Primary Pulmonary Hypertension, 3 ISO RGD:619568 D RGD:7240710 20180130 OMIM 12250353 CAV1 caveolin 1 gene DOID:9007888 Primary Pulmonary Hypertension, 3 ISO RGD:619568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3 PMID:22474227|PMID:25741868|PMID:26387786|PMID:28492532|PMID:29231014|PMID:31727138 12250353 CAV1 caveolin 1 gene DOID:9007889 Nephrogenic Fibrosing Dermopathy no_association ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs4730751) (human) PMID:23051628|REF_RGD_ID:8661777 12250353 CAV1 caveolin 1 gene DOID:9008217 Hemorrhage ISO RGD:2280 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium PMID:22954805|REF_RGD_ID:8661809 12250353 CAV1 caveolin 1 gene DOID:9008824 Sarcopenia severity ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNP:intron:14713G>A (rs3807987) (human) PMID:24815842|REF_RGD_ID:10045568 12250353 CAV1 caveolin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19234134|PMID:19288272|PMID:20562527|PMID:21501481 12250353 CAV1 caveolin 1 gene DOID:9351 diabetes mellitus ISO RGD:619568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 12250353 CAV1 caveolin 1 gene DOID:9743 diabetic neuropathy ISO RGD:1553438 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19675140|REF_RGD_ID:8661787 12250353 CAV1 caveolin 1 gene DOID:9970 obesity ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:22492718|REF_RGD_ID:6784520 12250367 BIRC6 baculoviral IAP repeat containing 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1316326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12250367 BIRC6 baculoviral IAP repeat containing 6 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1316326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914|PMID:25741868 12250367 BIRC6 baculoviral IAP repeat containing 6 gene DOID:14566 disease of cellular proliferation ISO RGD:1316326 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18239605 12250367 BIRC6 baculoviral IAP repeat containing 6 gene DOID:2526 prostate adenocarcinoma ameliorates ISO RGD:1316326 D RGD:9068941 20220818 RGD mRNA:increased expression:prostate gland (human) PMID:31964418|REF_RGD_ID:153344516 12250367 BIRC6 baculoviral IAP repeat containing 6 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:1316326 D RGD:9068941 20220818 RGD mRNA:increased expression:lung (human) PMID:31964418|REF_RGD_ID:153344516 12250367 BIRC6 baculoviral IAP repeat containing 6 gene DOID:3948 adrenocortical carcinoma exacerbates ISO RGD:1316326 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland (human) PMID:31964418|REF_RGD_ID:153344516 12250367 BIRC6 baculoviral IAP repeat containing 6 gene DOID:4467 clear cell renal cell carcinoma ameliorates ISO RGD:1316326 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 12250367 BIRC6 baculoviral IAP repeat containing 6 gene DOID:4947 cholangiocarcinoma ameliorates ISO RGD:1316326 D RGD:9068941 20220818 RGD mRNA:increased expression:bile duct (human) PMID:31964418|REF_RGD_ID:153344516 12250367 BIRC6 baculoviral IAP repeat containing 6 gene DOID:5419 schizophrenia ISO RGD:1316326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12250367 BIRC6 baculoviral IAP repeat containing 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12250367 BIRC6 baculoviral IAP repeat containing 6 gene DOID:607 paraplegia ISO RGD:1316326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 12250367 BIRC6 baculoviral IAP repeat containing 6 gene DOID:630 genetic disease ISO RGD:1316326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250367 BIRC6 baculoviral IAP repeat containing 6 gene DOID:9003654 Testicular Germ Cell Tumor disease_progression ISO RGD:1316326 D RGD:9068941 20220818 RGD mRNA:decreased expression:testis (human) PMID:31964418|REF_RGD_ID:153344516 12250445 MRPL43 mitochondrial ribosomal protein L43 gene DOID:630 genetic disease ISO RGD:1316878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250452 LRRC1 leucine rich repeat containing 1 gene DOID:630 genetic disease ISO RGD:1318108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250452 LRRC1 leucine rich repeat containing 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1318108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12250470 FAM83B family with sequence similarity 83 member B gene DOID:630 genetic disease ISO RGD:1323733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250485 KCNS2 potassium voltage-gated channel modifier subfamily S member 2 gene DOID:0111590 Cohen syndrome ISO RGD:1342899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12250485 KCNS2 potassium voltage-gated channel modifier subfamily S member 2 gene DOID:630 genetic disease ISO RGD:1342899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250491 ZYG11B zyg-11 family member B, cell cycle regulator gene DOID:2907 Goldenhar syndrome ISO RGD:1606215 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Goldenhar syndrome PMID:25741868|PMID:32738032 12250491 ZYG11B zyg-11 family member B, cell cycle regulator gene DOID:630 genetic disease ISO RGD:1606215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250519 CLCF1 cardiotrophin like cytokine factor 1 gene DOID:0060294 cold-induced sweating syndrome ISO RGD:1606817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12250519 CLCF1 cardiotrophin like cytokine factor 1 gene DOID:0080330 cold-induced sweating syndrome 2 ISO RGD:1606817 D RGD:7240710 20180130 OMIM 12250519 CLCF1 cardiotrophin like cytokine factor 1 gene DOID:0080330 cold-induced sweating syndrome 2 ISO RGD:1606817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cold-induced sweating syndrome 2 PMID:16782820|PMID:20400119|PMID:25741868 12250519 CLCF1 cardiotrophin like cytokine factor 1 gene DOID:0080600 COVID-19 ISO RGD:1606817 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12250519 CLCF1 cardiotrophin like cytokine factor 1 gene DOID:1059 intellectual disability ISO RGD:1606817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12250519 CLCF1 cardiotrophin like cytokine factor 1 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1606817 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 12250519 CLCF1 cardiotrophin like cytokine factor 1 gene DOID:630 genetic disease ISO RGD:1606817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12250519 CLCF1 cardiotrophin like cytokine factor 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1606817 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12250519 CLCF1 cardiotrophin like cytokine factor 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1606817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12250526 PARP3 poly(ADP-ribose) polymerase family member 3 gene DOID:630 genetic disease ISO RGD:1604647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250550 PRSS57 serine protease 57 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1342482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 12250550 PRSS57 serine protease 57 gene DOID:0080600 COVID-19 ISO RGD:1342482 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12250550 PRSS57 serine protease 57 gene DOID:2843 long QT syndrome ISO RGD:1342482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12250550 PRSS57 serine protease 57 gene DOID:5339 cyclic hematopoiesis ISO RGD:1342482 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12250550 PRSS57 serine protease 57 gene DOID:630 genetic disease ISO RGD:1342482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250560 OR51Q1F olfactory receptor family 51 subfamily Q member 1F gene DOID:630 genetic disease ISO RGD:1343317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250563 SYT9 synaptotagmin 9 gene DOID:630 genetic disease ISO RGD:1354462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250574 SLC25A15 solute carrier family 25 member 15 gene DOID:0050720 ornithine translocase deficiency ISO RGD:1322973 D RGD:7240710 20180130 OMIM 12250574 SLC25A15 solute carrier family 25 member 15 gene DOID:0050720 ornithine translocase deficiency ISO RGD:1322973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome PMID:10369256|PMID:10805333|PMID:11355015|PMID:11552031|PMID:11668643|PMID:12807890|PMID:14759633|PMID:16199547|PMID:16376511|PMID:16601889|PMID:16940241|PMID:17576681|PMID:17825324|PMID:18376250|PMID:18406340|PMID:18666241|PMID:18978333|PMID:19242930|PMID:22292090|PMID:22649802|PMID:23430880|PMID:24473688|PMID:25741868|PMID:25818551|PMID:25874378|PMID:26589310|PMID:28492532|PMID:29554876|PMID:30187369|PMID:30243302|PMID:31443672|PMID:31589614|PMID:32214227|PMID:32340404|PMID:3407856|PMID:9536098 12250574 SLC25A15 solute carrier family 25 member 15 gene DOID:1059 intellectual disability ISO RGD:1322973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 12250574 SLC25A15 solute carrier family 25 member 15 gene DOID:630 genetic disease ISO RGD:1322973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16601889|PMID:19242930|PMID:25741868|PMID:25874378|PMID:26589310|PMID:28492532|PMID:30187369|PMID:30243302 12250574 SLC25A15 solute carrier family 25 member 15 gene DOID:9008972 Hyperammonemia ISO RGD:1322973 D RGD:9068941 20200609 RGD PMID:10369256|PMID:10805333|REF_RGD_ID:1599239|REF_RGD_ID:1599240 12250574 SLC25A15 solute carrier family 25 member 15 gene DOID:9252 amino acid metabolic disorder ISO RGD:1322973 D RGD:9068941 20200609 RGD PMID:10369256|PMID:10805333|REF_RGD_ID:1599239|REF_RGD_ID:1599240 12250574 SLC25A15 solute carrier family 25 member 15 gene DOID:9273 citrullinemia ISO RGD:1322973 D RGD:9068941 20200609 RGD PMID:10369256|PMID:10805333|REF_RGD_ID:1599239|REF_RGD_ID:1599240 12250598 HNF1A HNF1 homeobox A gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:23771925|PMID:25741868|PMID:28492532|PMID:31517624|PMID:32395877|PMID:35328643|PMID:35673428 12250598 HNF1A HNF1 homeobox A gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:737153 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10027593|PMID:10102714|PMID:10333057|PMID:10447526|PMID:10581189|PMID:10585442|PMID:10588527|PMID:10634407|PMID:10690959|PMID:10754480|PMID:10852449|PMID:10966642|PMID:11058894|PMID:11162430|PMID:11272211|PMID:11289470|PMID:11296231|PMID:11315828|PMID:11315851|PMID:11393552|PMID:11463573|PMID:11668618|PMID:11692182|PMID:11719843|PMID:11904371|PMID:11942313|PMID:12050210|PMID:12107757|PMID:12355088|PMID:12359128|PMID:12378390|PMID:12453420|PMID:12453976|PMID:12488961|PMID:12530534|PMID:12574234|PMID:12618559|PMID:12627330|PMID:12675668|PMID:12788852|PMID:12832318|PMID:14614204|PMID:14747304|PMID:15031772|PMID:15114102|PMID:15277395|PMID:15305805|PMID:15522234|PMID:15649945|PMID:15657605|PMID:15726414|PMID:15761192|PMID:15841481|PMID:15883474|PMID:15928245|PMID:16046319|PMID:16186275|PMID:16249556|PMID:16274290|PMID:16496320|PMID:16562587|PMID:16602010|PMID:16917892|PMID:16963153|PMID:17033837|PMID:17054605|PMID:17062882|PMID:17116178|PMID:17192490|PMID:17220065|PMID:17407072|PMID:17407387|PMID:17425917|PMID:17440016|PMID:17496355|PMID:17573900|PMID:17601994|PMID:17700391|PMID:17919177|PMID:17924661|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18221440|PMID:18332101|PMID:18414213|PMID:18439552|PMID:18498634|PMID:18513305|PMID:18672310|PMID:18811724|PMID:18838325|PMID:19150152|PMID:19169489|PMID:19336507|PMID:19672314|PMID:19754856|PMID:19929997|PMID:20031592|PMID:20132997|PMID:20210571|PMID:20393147|PMID:20690076|PMID:20705777|PMID:20981092|PMID:21051477|PMID:21168233|PMID:21170474|PMID:21224407|PMID:21395678|PMID:21628466|PMID:21648289|PMID:21683639|PMID:21696527|PMID:21761282|PMID:21823540|PMID:22060211|PMID:22348187|PMID:22432108|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23517481|PMID:23551881|PMID:23607861|PMID:23610083|PMID:23616187|PMID:23624530|PMID:23771925|PMID:24014008|PMID:24033266|PMID:24097065|PMID:24698406|PMID:24728327|PMID:24905847|PMID:24915262|PMID:24933231|PMID:25057215|PMID:25174781|PMID:25306193|PMID:25414397|PMID:25483937|PMID:25525159|PMID:25555642|PMID:25575005|PMID:25741868|PMID:25935773|PMID:26059258|PMID:26110317|PMID:26287533|PMID:26431509|PMID:26446475|PMID:26467025|PMID:26479152|PMID:26817999|PMID:26853433|PMID:26981542|PMID:27148439|PMID:27271189|PMID:27398945|PMID:27458973|PMID:27634015|PMID:27659712|PMID:27899486|PMID:27913849|PMID:28012402|PMID:28105082|PMID:28166811|PMID:28170077|PMID:28395978|PMID:28410371|PMID:28492532|PMID:28597946|PMID:28701371|PMID:28862987|PMID:29207974|PMID:29376044|PMID:29417725|PMID:29439679|PMID:29666556|PMID:29758564|PMID:29844095|PMID:29895593|PMID:29927023|PMID:30155490|PMID:30191644|PMID:30202817|PMID:30293189|PMID:30455330|PMID:30507613|PMID:30663027|PMID:30814848|PMID:31109344|PMID:31166087|PMID:31216263|PMID:31264968|PMID:31363388|PMID:31365591|PMID:31385057|PMID:31485449|PMID:31517624|PMID:31566143|PMID:31576961|PMID:31604004|PMID:31638168|PMID:31673528|PMID:31844173|PMID:31968565|PMID:31968686|PMID:32017842|PMID:32238361|PMID:32395877|PMID:32581083|PMID:32684311|PMID:32910913|PMID:32928877|PMID:33046911|PMID:33363396|PMID:33477506|PMID:33651556|PMID:34668636|PMID:34803393|PMID:35328643|PMID:35673428|PMID:36257325|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9075819|PMID:9097962|PMID:9112026|PMID:9133564|PMID:9166684|PMID:9287053|PMID:9313763|PMID:9313764|PMID:9392505|PMID:9439666|PMID:9604876|PMID:9626139|PMID:9754819 12250598 HNF1A HNF1 homeobox A gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10027593|PMID:10027594|PMID:10078571|PMID:10102714|PMID:10333057|PMID:10447526|PMID:10581189|PMID:10585442|PMID:10588527|PMID:10634407|PMID:10690959|PMID:10754480|PMID:10852449|PMID:10966642|PMID:11058894|PMID:11162430|PMID:11272211|PMID:11289470|PMID:11296231|PMID:11315828|PMID:11315851|PMID:11393552|PMID:11463573|PMID:11668618|PMID:11692182|PMID:11719843|PMID:11904371|PMID:11938027|PMID:11942313|PMID:11978663|PMID:12050210|PMID:12107757|PMID:12355088|PMID:12359128|PMID:12378390|PMID:12442280|PMID:12453420|PMID:12453976|PMID:12488961|PMID:12530534|PMID:12574234|PMID:12618559|PMID:12627330|PMID:12646418|PMID:12675668|PMID:12788852|PMID:12832318|PMID:14614204|PMID:14747304|PMID:15031772|PMID:15114102|PMID:15277395|PMID:15305805|PMID:15387959|PMID:15522234|PMID:15649945|PMID:15657605|PMID:15726414|PMID:15761192|PMID:15841481|PMID:15883474|PMID:15928245|PMID:16046319|PMID:16186275|PMID:16199547|PMID:16223942|PMID:16249556|PMID:16274290|PMID:16496320|PMID:16562587|PMID:16602010|PMID:16834925|PMID:16917892|PMID:16930618|PMID:16963153|PMID:17033837|PMID:17054605|PMID:17062882|PMID:17116178|PMID:17192490|PMID:17220065|PMID:17407072|PMID:17407387|PMID:17425917|PMID:17440016|PMID:17496355|PMID:17573900|PMID:17601994|PMID:17700391|PMID:17919177|PMID:17924661|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18221440|PMID:18332101|PMID:18414213|PMID:18439552|PMID:18498634|PMID:18513302|PMID:18513305|PMID:18672310|PMID:18811724|PMID:18838325|PMID:19150152|PMID:19169489|PMID:19336507|PMID:19672314|PMID:19754856|PMID:1985954|PMID:19929997|PMID:20031592|PMID:20132997|PMID:20210571|PMID:20393147|PMID:20690076|PMID:20705777|PMID:20981092|PMID:21051477|PMID:21168233|PMID:21170474|PMID:21224407|PMID:21395678|PMID:21628466|PMID:21648289|PMID:21683639|PMID:21696527|PMID:21761282|PMID:21823540|PMID:22060211|PMID:22341299|PMID:22348187|PMID:22413961|PMID:22432108|PMID:22808921|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23517481|PMID:23548576|PMID:23551881|PMID:23607861|PMID:23610083|PMID:23616187|PMID:23624530|PMID:23674172|PMID:23771925|PMID:23803251|PMID:24014008|PMID:24033266|PMID:24041679|PMID:24069322|PMID:24097065|PMID:24323243|PMID:24698406|PMID:24728327|PMID:24905847|PMID:24915262|PMID:24933231|PMID:25057215|PMID:25174781|PMID:25306193|PMID:25414397|PMID:25483937|PMID:25525159|PMID:25555642|PMID:25575005|PMID:25741868|PMID:25887915|PMID:25935773|PMID:26059258|PMID:26110317|PMID:26287533|PMID:26431509|PMID:26446475|PMID:26467025|PMID:26479152|PMID:26552609|PMID:26817999|PMID:26853433|PMID:26981542|PMID:26997508|PMID:27035118|PMID:27083284|PMID:27148439|PMID:27271189|PMID:27398945|PMID:27458973|PMID:27486234|PMID:27634015|PMID:27659712|PMID:27899486|PMID:27913849|PMID:27967291|PMID:28012402|PMID:28105082|PMID:28170077|PMID:28324025|PMID:28395978|PMID:28410371|PMID:28492532|PMID:28597946|PMID:28701371|PMID:28862987|PMID:28938416|PMID:29207974|PMID:29334895|PMID:29376044|PMID:29417725|PMID:29439679|PMID:29666556|PMID:29758564|PMID:29844095|PMID:29895593|PMID:29927023|PMID:30121369|PMID:30155490|PMID:30191644|PMID:30202817|PMID:30293189|PMID:30455330|PMID:30487145|PMID:30507613|PMID:30663027|PMID:30814848|PMID:31109344|PMID:31166087|PMID:31216263|PMID:31264968|PMID:31333579|PMID:31363388|PMID:31365591|PMID:31385057|PMID:31483937|PMID:31485449|PMID:31517624|PMID:31566143|PMID:31576961|PMID:31604004|PMID:31638168|PMID:31673528|PMID:31675503|PMID:31754975|PMID:31844173|PMID:31968565|PMID:31968686|PMID:32017842|PMID:32041611|PMID:32238361|PMID:32375679|PMID:32395877|PMID:32581083|PMID:32684311|PMID:32741144|PMID:32910913|PMID:32928877|PMID:33046911|PMID:33363396|PMID:33459938|PMID:33477506|PMID:33538814|PMID:33651556|PMID:33889819|PMID:33950347|PMID:34035238|PMID:34161864|PMID:34373539|PMID:34440499|PMID:34458657|PMID:34462253|PMID:34496959|PMID:34668636|PMID:34741762|PMID:34803393|PMID:35218126|PMID:35328643|PMID:35673428|PMID:36257325|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9075819|PMID:9097962|PMID:9112026 12250598 HNF1A HNF1 homeobox A gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:9133564|PMID:9166684|PMID:9287053|PMID:9313763|PMID:9313764|PMID:9392505|PMID:9439666|PMID:9604876|PMID:9626139|PMID:9727913|PMID:9754819|PMID:9867222 12250598 HNF1A HNF1 homeobox A gene DOID:0050788 proximal symphalangism ISO RGD:737153 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger PMID:11938027|PMID:24033266|PMID:24728327|PMID:25741868|PMID:25887915|PMID:28492532|PMID:29334895 12250598 HNF1A HNF1 homeobox A gene DOID:0050868 hepatocellular adenoma exacerbates ISO RGD:737153 D RGD:9068941 20211210 RGD DNA:mutation: (human) PMID:17663417|REF_RGD_ID:150530291 12250598 HNF1A HNF1 homeobox A gene DOID:0050868 hepatocellular adenoma susceptibility ISO RGD:11397 D RGD:9068941 20200609 RGD DNA:frameshift mutation, non-sense mutation:cds:R229X, G55fsX57 (human) PMID:14598263|REF_RGD_ID:14700774 12250598 HNF1A HNF1 homeobox A gene DOID:0050868 hepatocellular adenoma susceptibility ISO RGD:11397 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity, mutations:multiple PMID:12355088|REF_RGD_ID:14700683 12250598 HNF1A HNF1 homeobox A gene DOID:0050868 hepatocellular adenoma susceptibility ISO RGD:3828 D RGD:9068941 20200609 RGD DNA:frameshift mutation, non-sense mutation:cds:R229X, G55fsX57 (human) PMID:14598263|REF_RGD_ID:14700774 12250598 HNF1A HNF1 homeobox A gene DOID:0050868 hepatocellular adenoma susceptibility ISO RGD:3828 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity, mutations:multiple PMID:12355088|REF_RGD_ID:14700683 12250598 HNF1A HNF1 homeobox A gene DOID:0050868 hepatocellular adenoma susceptibility ISO RGD:737153 D RGD:9068941 20200609 RGD DNA:frameshift mutation, non-sense mutation:cds:R229X, G55fsX57 (human) PMID:14598263|REF_RGD_ID:14700774 12250598 HNF1A HNF1 homeobox A gene DOID:0050868 hepatocellular adenoma susceptibility ISO RGD:737153 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity, mutations:multiple PMID:12355088|REF_RGD_ID:14700683 12250598 HNF1A HNF1 homeobox A gene DOID:0110757 type 1 diabetes mellitus 20 ISO RGD:737153 D RGD:7240710 20180130 OMIM 12250598 HNF1A HNF1 homeobox A gene DOID:0110757 type 1 diabetes mellitus 20 ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 20 PMID:10333057|PMID:10447526|PMID:10585442|PMID:10754480|PMID:11058894|PMID:11315851|PMID:11393552|PMID:11463573|PMID:11668618|PMID:11692182|PMID:11942313|PMID:12050210|PMID:12355088|PMID:12453420|PMID:12453976|PMID:12530534|PMID:12574234|PMID:12618559|PMID:12627330|PMID:14747304|PMID:15114102|PMID:15649945|PMID:15657605|PMID:15726414|PMID:15883474|PMID:15928245|PMID:16917892|PMID:16930618|PMID:17054605|PMID:17407387|PMID:17440016|PMID:17573900|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18672310|PMID:19150152|PMID:21051477|PMID:21224407|PMID:21236713|PMID:21395678|PMID:21628466|PMID:21648289|PMID:21683639|PMID:21823540|PMID:22808921|PMID:23348805|PMID:23551881|PMID:23607861|PMID:23610083|PMID:23803251|PMID:24097065|PMID:25174781|PMID:25555642|PMID:25741868|PMID:25935773|PMID:26431509|PMID:26467025|PMID:26479152|PMID:27899486|PMID:28012402|PMID:28170077|PMID:28395978|PMID:28492532|PMID:28862987|PMID:29207974|PMID:29417725|PMID:29439679|PMID:30293189|PMID:30814848|PMID:31483937|PMID:31517624|PMID:32395877|PMID:32741144|PMID:32910913|PMID:34373539|PMID:34496959|PMID:35328643|PMID:35673428|PMID:36257325|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9166684|PMID:9313763|PMID:9439666 12250598 HNF1A HNF1 homeobox A gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:737153 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10333057|PMID:10588527|PMID:10634407|PMID:10852449|PMID:11058894|PMID:11942313|PMID:12355088|PMID:12359128|PMID:12574234|PMID:12627330|PMID:12675668|PMID:12788852|PMID:12832318|PMID:15031772|PMID:15657605|PMID:15761192|PMID:15883474|PMID:15928245|PMID:16917892|PMID:16963153|PMID:17033837|PMID:17062882|PMID:17192490|PMID:17220065|PMID:17407072|PMID:17425917|PMID:17440016|PMID:17573900|PMID:17937063|PMID:18003757|PMID:18332101|PMID:18414213|PMID:18439552|PMID:18498634|PMID:18811724|PMID:19754856|PMID:20031592|PMID:20393147|PMID:20690076|PMID:20705777|PMID:21170474|PMID:21761282|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23607861|PMID:24033266|PMID:24097065|PMID:24728327|PMID:24915262|PMID:24933231|PMID:25057215|PMID:25555642|PMID:25741868|PMID:26059258|PMID:26431509|PMID:26467025|PMID:26981542|PMID:27035118|PMID:27458973|PMID:27899486|PMID:28105082|PMID:28492532|PMID:29207974|PMID:29376044|PMID:29758564|PMID:29844095|PMID:30155490|PMID:30202817|PMID:31109344|PMID:31264968|PMID:31385057|PMID:31485449|PMID:31566143|PMID:31673528|PMID:31844173|PMID:31968565|PMID:32910913|PMID:32928877|PMID:33046911|PMID:33477506|PMID:33651556|PMID:34668636|PMID:34803393|PMID:35218126|PMID:35328643|PMID:8945470|PMID:9112026|PMID:9133564|PMID:9287053|PMID:9313764|PMID:9604876|PMID:9867222 12250598 HNF1A HNF1 homeobox A gene DOID:0111102 maturity-onset diabetes of the young type 3 ISO RGD:737153 D RGD:7240710 20180130 OMIM 12250598 HNF1A HNF1 homeobox A gene DOID:0111102 maturity-onset diabetes of the young type 3 ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3 PMID:10027593|PMID:10027594|PMID:10078571|PMID:10333057|PMID:10447526|PMID:10482964|PMID:10585442|PMID:10588527|PMID:10634407|PMID:10649494|PMID:10754480|PMID:10852449|PMID:10966642|PMID:11058894|PMID:11162430|PMID:11272211|PMID:11289470|PMID:11296231|PMID:11315828|PMID:11315851|PMID:11393552|PMID:11463573|PMID:11692182|PMID:11938027|PMID:11942313|PMID:11978663|PMID:12050210|PMID:12107757|PMID:12355088|PMID:12359128|PMID:12378390|PMID:12442280|PMID:12453420|PMID:12453976|PMID:12488961|PMID:12488962|PMID:12530534|PMID:12574234|PMID:12618559|PMID:12627330|PMID:12646418|PMID:12675668|PMID:12788852|PMID:12832318|PMID:14747304|PMID:15031772|PMID:15114102|PMID:15277395|PMID:15305805|PMID:15387959|PMID:15522234|PMID:15649945|PMID:15657605|PMID:15726414|PMID:15761192|PMID:15841481|PMID:15883474|PMID:15928245|PMID:16046319|PMID:16186275|PMID:16199547|PMID:16223942|PMID:16249556|PMID:16274290|PMID:16834925|PMID:16917892|PMID:16963153|PMID:17033837|PMID:17054605|PMID:17062882|PMID:17116178|PMID:17192490|PMID:17220065|PMID:17407072|PMID:17407387|PMID:17425917|PMID:17440016|PMID:17496355|PMID:17573900|PMID:17576681|PMID:17601994|PMID:17700391|PMID:17924661|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18221440|PMID:18332101|PMID:18414213|PMID:18439552|PMID:18498634|PMID:18513302|PMID:18513305|PMID:18672310|PMID:18811724|PMID:18838325|PMID:19150152|PMID:19169489|PMID:19336507|PMID:19339519|PMID:19672314|PMID:19754856|PMID:19929997|PMID:20031592|PMID:20132997|PMID:20210571|PMID:20393147|PMID:20690076|PMID:20705777|PMID:20981092|PMID:21051477|PMID:21168233|PMID:21170474|PMID:21224407|PMID:21236713|PMID:21395678|PMID:21518407|PMID:21628466|PMID:21648289|PMID:21683639|PMID:21696527|PMID:21761282|PMID:21823540|PMID:22060211|PMID:22341299|PMID:22348187|PMID:22413961|PMID:22432108|PMID:22432796|PMID:22802087|PMID:22808921|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23517481|PMID:23548576|PMID:23551881|PMID:23607861|PMID:23610083|PMID:23624530|PMID:23771925|PMID:23803251|PMID:23869231|PMID:24014008|PMID:24033266|PMID:24041679|PMID:24097065|PMID:24323243|PMID:24728327|PMID:24915262|PMID:24933231|PMID:25057215|PMID:25174781|PMID:25306193|PMID:25414397|PMID:25483937|PMID:25555642|PMID:25575005|PMID:25741868|PMID:25887915|PMID:25935773|PMID:26059258|PMID:26110317|PMID:26287533|PMID:26431509|PMID:26467025|PMID:26479152|PMID:26552609|PMID:26853433|PMID:26981542|PMID:26997508|PMID:27035118|PMID:27083284|PMID:27148439|PMID:27271189|PMID:27458973|PMID:27486234|PMID:27659712|PMID:27899486|PMID:27913849|PMID:28012402|PMID:28105082|PMID:28170077|PMID:28324025|PMID:28395978|PMID:28410371|PMID:28492532|PMID:28597946|PMID:28701371|PMID:28862987|PMID:28938416|PMID:29179779|PMID:29207974|PMID:29334895|PMID:29376044|PMID:29417725|PMID:29439679|PMID:29666556|PMID:29758564|PMID:29844095|PMID:29895593|PMID:29927023|PMID:30155490|PMID:30181854|PMID:30191644|PMID:30202817|PMID:30293189|PMID:30455330|PMID:30487145|PMID:30663027|PMID:30814848|PMID:31109344|PMID:31264968|PMID:31333579|PMID:31363388|PMID:31365591|PMID:31385057|PMID:31483937|PMID:31485449|PMID:31517624|PMID:31566143|PMID:31576961|PMID:31604004|PMID:31638168|PMID:31673528|PMID:31675503|PMID:31754975|PMID:31844173|PMID:31968565|PMID:31968686|PMID:32017842|PMID:32041611|PMID:32238361|PMID:32375679|PMID:32395877|PMID:32581083|PMID:32684311|PMID:32741144|PMID:32910913|PMID:32928877|PMID:33046911|PMID:33363396|PMID:33459938|PMID:33477506|PMID:33538814|PMID:33651556|PMID:33889819|PMID:33950347|PMID:34373539|PMID:34440499|PMID:34458657|PMID:34462253|PMID:34496959|PMID:34668636|PMID:34741762|PMID:34803393|PMID:35218126|PMID:35299962|PMID:35328643|PMID:35535697|PMID:35673428|PMID:36257325|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9075819|PMID:9097962|PMID:9112026|PMID:9133564|PMID:9166684|PMID:9287053|PMID:9313763|PMID:9313764|PMID:9392505|PMID:9439666|PMID:9536098|PMID:9562352|PMID:9604876|PMID:9626139|PMID:9727913|PMID:9754819 12250598 HNF1A HNF1 homeobox A gene DOID:0111366 familial hepatic adenoma ISO RGD:737153 D RGD:7240710 20180130 OMIM 12250598 HNF1A HNF1 homeobox A gene DOID:0111366 familial hepatic adenoma ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatic adenomas, familial PMID:10333057|PMID:10447526|PMID:10754480|PMID:11058894|PMID:11315851|PMID:12050210|PMID:12355088|PMID:12530534|PMID:12574234|PMID:12618559|PMID:14747304|PMID:15649945|PMID:15928245|PMID:17054605|PMID:17407387|PMID:17440016|PMID:17573900|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18672310|PMID:21051477|PMID:21628466|PMID:23348805|PMID:23551881|PMID:23607861|PMID:25174781|PMID:25555642|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28862987|PMID:29417725|PMID:30814848|PMID:32741144|PMID:34373539|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9166684|PMID:9313763|PMID:9439666 12250598 HNF1A HNF1 homeobox A gene DOID:10603 glucose intolerance susceptibility ISO RGD:737153 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A98V PMID:15277395|REF_RGD_ID:1601481 12250598 HNF1A HNF1 homeobox A gene DOID:11714 gestational diabetes ISO RGD:737153 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gestational diabetes PMID:35299962|PMID:9562352 12250598 HNF1A HNF1 homeobox A gene DOID:13619 extrahepatic cholestasis ISO RGD:3828 D RGD:9068941 20200609 RGD mRNA,protein,DNA:decreased expression, decreased binding, decreased expression:liver, nuclear (rat) PMID:15723437|REF_RGD_ID:14700989 12250598 HNF1A HNF1 homeobox A gene DOID:2394 ovarian cancer ISO RGD:737153 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:10333057|PMID:10588527|PMID:10634407|PMID:11289470|PMID:12359128|PMID:12574234|PMID:12618559|PMID:12675668|PMID:15277395|PMID:15761192|PMID:15928245|PMID:16046319|PMID:16186275|PMID:16917892|PMID:16963153|PMID:17033837|PMID:17116178|PMID:17192490|PMID:17425917|PMID:17440016|PMID:17496355|PMID:17573900|PMID:17601994|PMID:17700391|PMID:17924661|PMID:17937063|PMID:18332101|PMID:18414213|PMID:18513305|PMID:23348805|PMID:24728327|PMID:25575005|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29895593|PMID:31109344|PMID:32238361|PMID:35328643|PMID:8945470|PMID:9112026|PMID:9133564|PMID:9287053 12250598 HNF1A HNF1 homeobox A gene DOID:3459 breast carcinoma ISO RGD:737153 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:11938027|PMID:24033266|PMID:24728327|PMID:25741868|PMID:25887915|PMID:28492532|PMID:29334895 12250598 HNF1A HNF1 homeobox A gene DOID:4195 hyperglycemia ISO RGD:737153 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29753610 12250598 HNF1A HNF1 homeobox A gene DOID:4450 renal cell carcinoma ISO RGD:737153 D RGD:7240710 20180130 OMIM 12250598 HNF1A HNF1 homeobox A gene DOID:4467 clear cell renal cell carcinoma ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:10333057|PMID:10447526|PMID:10754480|PMID:10966642|PMID:11058894|PMID:11315851|PMID:11393552|PMID:12050210|PMID:12355088|PMID:12530534|PMID:12574234|PMID:12618559|PMID:14747304|PMID:15649945|PMID:15928245|PMID:17054605|PMID:17407387|PMID:17440016|PMID:17573900|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18672310|PMID:19169489|PMID:19929997|PMID:21051477|PMID:21628466|PMID:21696527|PMID:22348187|PMID:22432108|PMID:23348805|PMID:23551881|PMID:23607861|PMID:24097065|PMID:25174781|PMID:25555642|PMID:25741868|PMID:26059258|PMID:26431509|PMID:26467025|PMID:27148439|PMID:28395978|PMID:28492532|PMID:28862987|PMID:29417725|PMID:30814848|PMID:31365591|PMID:31576961|PMID:31638168|PMID:32741144|PMID:34373539|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9166684|PMID:9313763|PMID:9392505|PMID:9439666|PMID:9754819 12250598 HNF1A HNF1 homeobox A gene DOID:4471 chromophobe renal cell carcinoma ISO RGD:737153 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromophobe renal cell carcinoma PMID:10966642|PMID:11393552|PMID:15649945|PMID:17573900|PMID:19169489|PMID:19929997|PMID:21696527|PMID:22348187|PMID:22432108|PMID:24097065|PMID:25741868|PMID:26059258|PMID:26431509|PMID:26467025|PMID:27148439|PMID:28395978|PMID:28492532|PMID:31365591|PMID:31576961|PMID:31638168|PMID:9392505|PMID:9754819 12250598 HNF1A HNF1 homeobox A gene DOID:5524 adenoid squamous cell carcinoma ISO RGD:11397 D RGD:9068941 20211231 RGD PMID:10489374|REF_RGD_ID:150540314 12250598 HNF1A HNF1 homeobox A gene DOID:557 kidney disease ISO RGD:3828 D RGD:9068941 20200609 RGD associated with Hypertension PMID:18443232|REF_RGD_ID:2301829 12250598 HNF1A HNF1 homeobox A gene DOID:684 hepatocellular carcinoma treatment ISO RGD:11397 D RGD:9068941 20200609 RGD human cell line in mouse model PMID:29466992|REF_RGD_ID:14700664 12250598 HNF1A HNF1 homeobox A gene DOID:684 hepatocellular carcinoma treatment ISO RGD:3828 D RGD:9068941 20200609 RGD human cell line in mouse model PMID:29466992|REF_RGD_ID:14700664 12250598 HNF1A HNF1 homeobox A gene DOID:684 hepatocellular carcinoma treatment ISO RGD:737153 D RGD:9068941 20200609 RGD human cell line in mouse model PMID:29466992|REF_RGD_ID:14700664 12250598 HNF1A HNF1 homeobox A gene DOID:9000149 Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive ISO RGD:737153 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive PMID:30561130 12250598 HNF1A HNF1 homeobox A gene DOID:9000528 Coronary Disease ISO RGD:737153 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 12250598 HNF1A HNF1 homeobox A gene DOID:9002605 Delayed Hypersensitivity ISO RGD:737153 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Reduced delayed hypersensitivity PMID:11938027|PMID:24033266|PMID:24728327|PMID:25741868|PMID:25887915|PMID:28492532|PMID:29334895 12250598 HNF1A HNF1 homeobox A gene DOID:9005369 Hepatomegaly ISO RGD:11397 D RGD:9068941 20200609 RGD PMID:28394260|REF_RGD_ID:14700773 12250598 HNF1A HNF1 homeobox A gene DOID:9005369 Hepatomegaly ISO RGD:3828 D RGD:9068941 20200609 RGD PMID:28394260|REF_RGD_ID:14700773 12250598 HNF1A HNF1 homeobox A gene DOID:9005369 Hepatomegaly ISO RGD:737153 D RGD:9068941 20200609 RGD PMID:28394260|REF_RGD_ID:14700773 12250598 HNF1A HNF1 homeobox A gene DOID:9007692 Insulin Resistance ISO RGD:737153 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF PMID:10333057|PMID:10588527|PMID:10634407|PMID:10852449|PMID:12627330|PMID:12675668|PMID:12788852|PMID:15031772|PMID:15761192|PMID:15928245|PMID:16963153|PMID:17033837|PMID:17192490|PMID:17407072|PMID:17425917|PMID:17440016|PMID:17573900|PMID:17937063|PMID:18332101|PMID:18498634|PMID:18811724|PMID:20031592|PMID:24728327|PMID:24933231|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31109344|PMID:35328643|PMID:8945470|PMID:9112026|PMID:9287053|PMID:9604876 12250598 HNF1A HNF1 homeobox A gene DOID:9008691 Liver Injury susceptibility ISO RGD:11397 D RGD:9068941 20200609 RGD protein:decreased expression:liver (mouse) PMID:26857093|REF_RGD_ID:14700772 12250598 HNF1A HNF1 homeobox A gene DOID:9008691 Liver Injury susceptibility ISO RGD:3828 D RGD:9068941 20200609 RGD protein:decreased expression:liver (mouse) PMID:26857093|REF_RGD_ID:14700772 12250598 HNF1A HNF1 homeobox A gene DOID:9008691 Liver Injury susceptibility ISO RGD:737153 D RGD:9068941 20200609 RGD protein:decreased expression:liver (mouse) PMID:26857093|REF_RGD_ID:14700772 12250598 HNF1A HNF1 homeobox A gene DOID:9256 colorectal cancer ISO RGD:737153 D RGD:9068941 20211231 RGD RNA:increased expression:colon (human) PMID:27433921|REF_RGD_ID:150540315 12250598 HNF1A HNF1 homeobox A gene DOID:9256 colorectal cancer treatment ISO RGD:737153 D RGD:9068941 20211231 RGD DNA:SNPs:multiple (human) PMID:29066969|REF_RGD_ID:150540313 12250598 HNF1A HNF1 homeobox A gene DOID:9281 phenylketonuria ISO RGD:11397 D RGD:9068941 20220825 MouseDO OMIM:261600 12250598 HNF1A HNF1 homeobox A gene DOID:9351 diabetes mellitus ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:10027594|PMID:10078571|PMID:10102714|PMID:10333057|PMID:10447526|PMID:10482964|PMID:10585442|PMID:10588527|PMID:10634407|PMID:10754480|PMID:10966642|PMID:11058894|PMID:11162430|PMID:11272211|PMID:11289470|PMID:11296231|PMID:11315828|PMID:11315851|PMID:11393552|PMID:11463573|PMID:11668618|PMID:11692182|PMID:11719843|PMID:11938027|PMID:11978663|PMID:12050210|PMID:12107757|PMID:12355088|PMID:12359128|PMID:12442280|PMID:12453420|PMID:12453976|PMID:12488961|PMID:12488962|PMID:12530534|PMID:12547858|PMID:12574234|PMID:12618559|PMID:12627330|PMID:12646418|PMID:12675668|PMID:14747304|PMID:15031772|PMID:15114102|PMID:15277395|PMID:15305805|PMID:15522234|PMID:15649945|PMID:15657605|PMID:15726414|PMID:15761192|PMID:15841481|PMID:15928245|PMID:16046319|PMID:16186275|PMID:16199547|PMID:16223942|PMID:16249556|PMID:16274290|PMID:16496320|PMID:16562587|PMID:16917892|PMID:16930618|PMID:16963153|PMID:17033837|PMID:17054605|PMID:17116178|PMID:17192490|PMID:17407387|PMID:17425917|PMID:17440016|PMID:17496355|PMID:17573900|PMID:17601994|PMID:17700391|PMID:17924661|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18332101|PMID:18414213|PMID:18513302|PMID:18513305|PMID:18672310|PMID:18811724|PMID:18838325|PMID:19150152|PMID:19169489|PMID:19336507|PMID:19339519|PMID:19754856|PMID:1985954|PMID:19929997|PMID:20132997|PMID:20393147|PMID:20705777|PMID:20981092|PMID:21051477|PMID:21168233|PMID:21170474|PMID:21224407|PMID:21395678|PMID:21518407|PMID:21628466|PMID:21648289|PMID:21683639|PMID:21696527|PMID:21823540|PMID:22060211|PMID:22341299|PMID:22348187|PMID:22413961|PMID:22432108|PMID:22432796|PMID:22802087|PMID:22808921|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23517481|PMID:23548576|PMID:23551881|PMID:23607861|PMID:23610083|PMID:23624530|PMID:23674172|PMID:23771925|PMID:23803251|PMID:24014008|PMID:24033266|PMID:24041679|PMID:24069322|PMID:24097065|PMID:24323243|PMID:24728327|PMID:24915262|PMID:25174781|PMID:25306193|PMID:25414397|PMID:25483937|PMID:25525159|PMID:25555642|PMID:25575005|PMID:25741868|PMID:25887915|PMID:25935773|PMID:26059258|PMID:26110317|PMID:26287533|PMID:26431509|PMID:26446475|PMID:26467025|PMID:26479152|PMID:26817999|PMID:26853433|PMID:26997508|PMID:27083284|PMID:27148439|PMID:27229139|PMID:27271189|PMID:27398945|PMID:27458973|PMID:27486234|PMID:27899486|PMID:27913849|PMID:28012402|PMID:28105082|PMID:28170077|PMID:28395978|PMID:28410371|PMID:28492532|PMID:28597946|PMID:28701371|PMID:28862987|PMID:28938416|PMID:29179779|PMID:29207974|PMID:29334895|PMID:29376044|PMID:29417725|PMID:29439679|PMID:29493090|PMID:29666556|PMID:29758564|PMID:29777474|PMID:29844095|PMID:29895593|PMID:29927023|PMID:30121369|PMID:30155490|PMID:30181854|PMID:30191644|PMID:30293189|PMID:30455330|PMID:30487145|PMID:30507613|PMID:30561130|PMID:30663027|PMID:30814848|PMID:31109344|PMID:31166087|PMID:31264968|PMID:31363388|PMID:31365591|PMID:31385057|PMID:31483937|PMID:31517624|PMID:31566143|PMID:31576961|PMID:31604004|PMID:31638168|PMID:31658956|PMID:31675503|PMID:31754975|PMID:31844173|PMID:31968565|PMID:31968686|PMID:32041611|PMID:32238361|PMID:32395877|PMID:32684311|PMID:32741144|PMID:32910913|PMID:33046911|PMID:33363396|PMID:33459938|PMID:33477506|PMID:33538814|PMID:33651556|PMID:33889819|PMID:33950347|PMID:34035238|PMID:34373539|PMID:34440499|PMID:34458657|PMID:34462253|PMID:34496959|PMID:34741762|PMID:35328643|PMID:35673428|PMID:36257325|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9075819|PMID:9097962|PMID:9112026|PMID:9133564|PMID:9166684|PMID:9287053|PMID:9313763|PMID:9313764|PMID:9392505|PMID:9439666|PMID:9604876|PMID:9727913|PMID:9754819|PMID:9867222 12250598 HNF1A HNF1 homeobox A gene DOID:9352 type 2 diabetes mellitus ISO RGD:737153 D RGD:7240710 20180130 OMIM 12250598 HNF1A HNF1 homeobox A gene DOID:9352 type 2 diabetes mellitus ISO RGD:737153 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Insulin-resistant diabetes mellitus | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10084598|PMID:10333057|PMID:10588527|PMID:10634407|PMID:10843190|PMID:10852449|PMID:11058894|PMID:11904371|PMID:11942313|PMID:12355088|PMID:12359128|PMID:12574234|PMID:12627330|PMID:12675668|PMID:12788852|PMID:12832318|PMID:15031772|PMID:15657605|PMID:15761192|PMID:15883474|PMID:15928245|PMID:16917892|PMID:16963153|PMID:17033837|PMID:17062882|PMID:17192490|PMID:17220065|PMID:17407072|PMID:17425917|PMID:17440016|PMID:17573900|PMID:17937063|PMID:18003757|PMID:18332101|PMID:18414213|PMID:18439552|PMID:18498634|PMID:18811724|PMID:19672314|PMID:19754856|PMID:20031592|PMID:20393147|PMID:20690076|PMID:20705777|PMID:21170474|PMID:21761282|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23607861|PMID:24033266|PMID:24097065|PMID:24728327|PMID:24915262|PMID:24933231|PMID:25057215|PMID:25555642|PMID:25741868|PMID:26059258|PMID:26431509|PMID:26467025|PMID:26981542|PMID:27035118|PMID:27458973|PMID:27899486|PMID:28105082|PMID:28492532|PMID:29207974|PMID:29376044|PMID:29758564|PMID:29844095|PMID:30155490|PMID:30202817|PMID:31109344|PMID:31264968|PMID:31385057|PMID:31485449|PMID:31566143|PMID:31673528|PMID:31844173|PMID:31968565|PMID:32910913|PMID:32928877|PMID:33477506|PMID:33651556|PMID:34668636|PMID:34803393|PMID:35218126|PMID:35328643|PMID:8945470|PMID:9112026|PMID:9133564|PMID:9287053|PMID:9313764|PMID:9604876|PMID:9867222 12250598 HNF1A HNF1 homeobox A gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:737153 D RGD:9068941 20200609 RGD DNA:nonsense mutations, missense mutations: :multiple PMID:18003757|REF_RGD_ID:2301827 12250598 HNF1A HNF1 homeobox A gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737153 D RGD:9068941 20200609 RGD DNA:SNP::rs1169288 associated with future risk of developing T2DM (p=0.0002) in individuals from the Botnia study in Finland and the Malmo project in Sweden PMID:18332101|REF_RGD_ID:2301863 12250598 HNF1A HNF1 homeobox A gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737153 D RGD:9068941 20200609 RGD Maturity-onset diabetes of the young type III, OMIM:600496;DNA:insertions, deletions, point mutations: :multiple PMID:8945470|REF_RGD_ID:1601479 12250598 HNF1A HNF1 homeobox A gene DOID:9744 type 1 diabetes mellitus ISO RGD:737153 D RGD:7240710 20180130 OMIM 12250598 HNF1A HNF1 homeobox A gene DOID:9744 type 1 diabetes mellitus ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 1 PMID:10333057|PMID:10447526|PMID:10585442|PMID:10588527|PMID:10690959|PMID:10754480|PMID:10966642|PMID:11058894|PMID:11296231|PMID:11315828|PMID:11315851|PMID:11393552|PMID:11719843|PMID:11938027|PMID:11942313|PMID:12050210|PMID:12355088|PMID:12359128|PMID:12453420|PMID:12488961|PMID:12530534|PMID:12574234|PMID:12618559|PMID:12627330|PMID:12832318|PMID:14747304|PMID:15649945|PMID:15657605|PMID:15883474|PMID:15928245|PMID:16274290|PMID:16562587|PMID:16917892|PMID:17054605|PMID:17407387|PMID:17440016|PMID:17573900|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18672310|PMID:18838325|PMID:19169489|PMID:19754856|PMID:19929997|PMID:20393147|PMID:21051477|PMID:21168233|PMID:21170474|PMID:21224407|PMID:21628466|PMID:21696527|PMID:21761282|PMID:21823540|PMID:22348187|PMID:22432108|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23517481|PMID:23551881|PMID:23607861|PMID:23771925|PMID:23869231|PMID:24033266|PMID:24097065|PMID:24728327|PMID:24915262|PMID:25174781|PMID:25414397|PMID:25483937|PMID:25555642|PMID:25741868|PMID:25887915|PMID:26059258|PMID:26431509|PMID:26467025|PMID:27083284|PMID:27148439|PMID:27271189|PMID:27899486|PMID:27913849|PMID:28395978|PMID:28410371|PMID:28492532|PMID:28701371|PMID:28862987|PMID:28938416|PMID:29207974|PMID:29334895|PMID:29417725|PMID:29439679|PMID:29666556|PMID:29758564|PMID:29927023|PMID:30155490|PMID:30202817|PMID:30293189|PMID:30455330|PMID:30814848|PMID:31264968|PMID:31363388|PMID:31365591|PMID:31485449|PMID:31517624|PMID:31576961|PMID:31638168|PMID:32041611|PMID:32238361|PMID:32395877|PMID:32741144|PMID:32910913|PMID:33046911|PMID:33477506|PMID:34161864|PMID:34373539|PMID:34496959|PMID:34741762|PMID:35218126|PMID:35328643|PMID:35673428|PMID:36257325|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9075819|PMID:9112026|PMID:9166684|PMID:9313763|PMID:9313764|PMID:9392505|PMID:9439666|PMID:9727913|PMID:9754819 12250598 HNF1A HNF1 homeobox A gene DOID:9993 hypoglycemia ISO RGD:737153 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15787664 12250618 ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12250618 ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 gene DOID:10283 prostate cancer ISO RGD:1347923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12250618 ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1347923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12250618 ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 gene DOID:630 genetic disease ISO RGD:1347923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250618 ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12250618 ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12250663 SHC4 SHC adaptor protein 4 gene DOID:2717 Bloom syndrome ISO RGD:1602620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12250663 SHC4 SHC adaptor protein 4 gene DOID:630 genetic disease ISO RGD:1602620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250663 SHC4 SHC adaptor protein 4 gene DOID:9256 colorectal cancer ISO RGD:1602620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12250682 GRID2 glutamate ionotropic receptor delta type subunit 2 gene DOID:0050886 Troyer syndrome ISO RGD:68527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Troyer syndrome PMID:24122788 12250682 GRID2 glutamate ionotropic receptor delta type subunit 2 gene DOID:0080042 autosomal recessive spinocerebellar ataxia 18 ISO RGD:68527 D RGD:7240710 20180130 OMIM 12250682 GRID2 glutamate ionotropic receptor delta type subunit 2 gene DOID:0080042 autosomal recessive spinocerebellar ataxia 18 ISO RGD:68527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 18 PMID:23611888|PMID:24078737|PMID:25741868|PMID:27980096|PMID:28492532 12250682 GRID2 glutamate ionotropic receptor delta type subunit 2 gene DOID:5419 schizophrenia ISO RGD:68527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12250682 GRID2 glutamate ionotropic receptor delta type subunit 2 gene DOID:630 genetic disease ISO RGD:68527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10725919|PMID:15970596|PMID:28492532|PMID:9285588 12250682 GRID2 glutamate ionotropic receptor delta type subunit 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:68527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12250709 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1344755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia 12250709 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1344755 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12250709 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:0110138 Bardet-Biedl syndrome 16 ISO RGD:1344755 D RGD:7240710 20180130 OMIM 12250709 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:0110138 Bardet-Biedl syndrome 16 ISO RGD:1344755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 PMID:16199547|PMID:17576681|PMID:20835237|PMID:22190896|PMID:22626039|PMID:23188109|PMID:25741868|PMID:27486776|PMID:28492532|PMID:9536098 12250709 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:12712 nephronophthisis ISO RGD:1623115 D RGD:9068941 20220929 MouseDO 12250709 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1344755 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868 12250709 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:1540 parathyroid carcinoma ISO RGD:1344755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12250709 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1344755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16199547|PMID:20835237|PMID:21866095|PMID:22190896|PMID:23559409|PMID:25741868|PMID:28492532 12250709 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:2975 cystic kidney disease ISO RGD:1344755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20835237 12250709 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:557 kidney disease ISO RGD:1344755 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 12250709 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:5679 retinal disease ISO RGD:1344755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20835237 12250709 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:630 genetic disease ISO RGD:1344755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20835237|PMID:22190896|PMID:25741868|PMID:28492532 12250709 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:1344755 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 PMID:22729224|PMID:23745724|PMID:24705253|PMID:25087610|PMID:28492532 12250709 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1344755 D RGD:7240710 20180130 OMIM 12250709 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1344755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:16199547|PMID:17576681|PMID:20835237|PMID:21866095|PMID:22190896|PMID:22626039|PMID:23188109|PMID:23559409|PMID:25640679|PMID:25741868|PMID:26968886|PMID:27486776|PMID:28492532|PMID:32432520|PMID:9536098 12250709 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12250709 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12250747 PRORP protein only RNase P catalytic subunit gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:1312913 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:28492532 12250747 PRORP protein only RNase P catalytic subunit gene DOID:0111921 spermatogenic failure 36 ISO RGD:1312913 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 36 PMID:25741868 12250747 PRORP protein only RNase P catalytic subunit gene DOID:630 genetic disease ISO RGD:1312913 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250747 PRORP protein only RNase P catalytic subunit gene DOID:9002447 Myoectodermal Gonadal Dysgenesis Syndrome ISO RGD:1312913 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy PMID:25741868 12250747 PRORP protein only RNase P catalytic subunit gene DOID:9002704 Leukoencephalopathies ISO RGD:1312913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy 12250747 PRORP protein only RNase P catalytic subunit gene DOID:9003326 Perrault Syndrome 1 ISO RGD:1312913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perrault syndrome 1 12250747 PRORP protein only RNase P catalytic subunit gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1312913 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12250747 PRORP protein only RNase P catalytic subunit gene DOID:9006756 Combined Oxidative Phosphorylation Deficiency 54 ISO RGD:1312913 D RGD:7240710 20220223 OMIM 12250747 PRORP protein only RNase P catalytic subunit gene DOID:9006756 Combined Oxidative Phosphorylation Deficiency 54 ISO RGD:1312913 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 54 PMID:25741868 12250747 PRORP protein only RNase P catalytic subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1312913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12250759 KRT24 keratin 24 gene DOID:630 genetic disease ISO RGD:1349415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250771 MBTPS2 membrane bound transcription factor peptidase, site 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12250771 MBTPS2 membrane bound transcription factor peptidase, site 2 gene DOID:0080754 X-linked keratosis follicularis spinulosa decalvans ISO RGD:1342985 D RGD:7240710 20180130 OMIM 12250771 MBTPS2 membrane bound transcription factor peptidase, site 2 gene DOID:0080754 X-linked keratosis follicularis spinulosa decalvans ISO RGD:1342985 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked PMID:20672378|PMID:23316014|PMID:25741868|PMID:8745901 12250771 MBTPS2 membrane bound transcription factor peptidase, site 2 gene DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 ISO RGD:1342985 D RGD:7240710 20180130 OMIM 12250771 MBTPS2 membrane bound transcription factor peptidase, site 2 gene DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 ISO RGD:1342985 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome PMID:10694306|PMID:19361614|PMID:21426410|PMID:22105905|PMID:24090718|PMID:24313295|PMID:25741868|PMID:28492532 12250771 MBTPS2 membrane bound transcription factor peptidase, site 2 gene DOID:0111847 osteogenesis imperfecta type 19 ISO RGD:1342985 D RGD:7240710 20190315 OMIM 12250771 MBTPS2 membrane bound transcription factor peptidase, site 2 gene DOID:0111847 osteogenesis imperfecta type 19 ISO RGD:1342985 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type 19 PMID:25741868|PMID:27380894 12250771 MBTPS2 membrane bound transcription factor peptidase, site 2 gene DOID:0112012 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques ISO RGD:1342985 D RGD:7240710 20180130 OMIM 12250771 MBTPS2 membrane bound transcription factor peptidase, site 2 gene DOID:0112012 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques ISO RGD:1342985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Olmsted syndrome, X-linked PMID:17367233|PMID:22931912|PMID:25741868 12250771 MBTPS2 membrane bound transcription factor peptidase, site 2 gene DOID:12347 osteogenesis imperfecta ISO RGD:1342985 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532 12250771 MBTPS2 membrane bound transcription factor peptidase, site 2 gene DOID:12849 autistic disorder ISO RGD:1342985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12250771 MBTPS2 membrane bound transcription factor peptidase, site 2 gene DOID:630 genetic disease ISO RGD:1342985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12250771 MBTPS2 membrane bound transcription factor peptidase, site 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1342985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563831 12250771 MBTPS2 membrane bound transcription factor peptidase, site 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12250811 PABPC5 poly(A) binding protein cytoplasmic 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12250811 PABPC5 poly(A) binding protein cytoplasmic 5 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1348533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:25741868 12250811 PABPC5 poly(A) binding protein cytoplasmic 5 gene DOID:12849 autistic disorder ISO RGD:1348533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12250811 PABPC5 poly(A) binding protein cytoplasmic 5 gene DOID:630 genetic disease ISO RGD:1348533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250821 ADCY1 adenylate cyclase 1 gene DOID:0060001 withdrawal disorder ISO RGD:1319601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16914643 12250821 ADCY1 adenylate cyclase 1 gene DOID:0110501 autosomal recessive nonsyndromic deafness 44 ISO RGD:1319601 D RGD:7240710 20180130 OMIM 12250821 ADCY1 adenylate cyclase 1 gene DOID:0110501 autosomal recessive nonsyndromic deafness 44 ISO RGD:1319601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 44 PMID:15583425|PMID:24033266|PMID:24482543|PMID:24824130|PMID:25741868|PMID:28492532 12250821 ADCY1 adenylate cyclase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12250821 ADCY1 adenylate cyclase 1 gene DOID:5409 lung small cell carcinoma ISO RGD:1319601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 12250821 ADCY1 adenylate cyclase 1 gene DOID:630 genetic disease ISO RGD:1319601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12250821 ADCY1 adenylate cyclase 1 gene DOID:9002362 Hyperkinesis ISO RGD:1319601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16914643 12250846 P4HA3 prolyl 4-hydroxylase subunit alpha 3 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1346978 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12250846 P4HA3 prolyl 4-hydroxylase subunit alpha 3 gene DOID:1059 intellectual disability ISO RGD:1346978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12250846 P4HA3 prolyl 4-hydroxylase subunit alpha 3 gene DOID:630 genetic disease ISO RGD:1346978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250868 GCH1 GTP cyclohydrolase 1 gene DOID:0080600 COVID-19 ISO RGD:1345739 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12250868 GCH1 GTP cyclohydrolase 1 gene DOID:0090043 dystonia 5 ISO RGD:1345739 D RGD:7240710 20180130 OMIM 12250868 GCH1 GTP cyclohydrolase 1 gene DOID:0090043 dystonia 5 ISO RGD:1345739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dopa-responsive dystonia | ClinVar Annotator: match by term: Dystonia 5 | ClinVar Annotator: match by term: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia PMID:10078749|PMID:10208576|PMID:10457396|PMID:10496263|PMID:10732814|PMID:10825351|PMID:10984670|PMID:10987649|PMID:11026444|PMID:11113234|PMID:11359069|PMID:11486899|PMID:12112113|PMID:12391354|PMID:12473771|PMID:12707079|PMID:12874420|PMID:1449240|PMID:15303002|PMID:15389992|PMID:15753436|PMID:15852365|PMID:16199547|PMID:16289769|PMID:16917893|PMID:17044972|PMID:17101830|PMID:17111153|PMID:17557242|PMID:17576681|PMID:17804835|PMID:17898029|PMID:18044725|PMID:18276179|PMID:18554280|PMID:18587264|PMID:18752196|PMID:19234759|PMID:19332422|PMID:19491146|PMID:19566901|PMID:20082337|PMID:20108370|PMID:20187889|PMID:20437540|PMID:20491893|PMID:20818608|PMID:20842687|PMID:20937667|PMID:21412842|PMID:21935284|PMID:22373569|PMID:23211702|PMID:23430498|PMID:23762320|PMID:24033266|PMID:24255805|PMID:24474670|PMID:24509643|PMID:24993959|PMID:25125585|PMID:25150291|PMID:25181484|PMID:25398234|PMID:25416181|PMID:25497597|PMID:25557619|PMID:25640679|PMID:25741868|PMID:26230973|PMID:26400349|PMID:26467025|PMID:27185167|PMID:27217339|PMID:27313105|PMID:27619486|PMID:27666935|PMID:28397219|PMID:28492532|PMID:28582483|PMID:28958832|PMID:29290055|PMID:29471552|PMID:29948246|PMID:30314816|PMID:30894892|PMID:30911941|PMID:31130284|PMID:31178337|PMID:31213404|PMID:33713342|PMID:33875303|PMID:34054692|PMID:34426522|PMID:35083481|PMID:7544125|PMID:7730309|PMID:7874165|PMID:8298648|PMID:8619546|PMID:8852666|PMID:9120469|PMID:9328244|PMID:9536098|PMID:9566388|PMID:9576537|PMID:9585358|PMID:9626769|PMID:9667588|PMID:9749603|PMID:9778264|PMID:9886460 12250868 GCH1 GTP cyclohydrolase 1 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1345739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:25741868 12250868 GCH1 GTP cyclohydrolase 1 gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:1345739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:18252212|PMID:21340693|PMID:28492532 12250868 GCH1 GTP cyclohydrolase 1 gene DOID:0112225 BH4-deficient hyperphenylalaninemia B ISO RGD:1345739 D RGD:7240710 20180130 OMIM 12250868 GCH1 GTP cyclohydrolase 1 gene DOID:0112225 BH4-deficient hyperphenylalaninemia B ISO RGD:1345739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GTP cyclohydrolase I deficiency | ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-Deficient, B PMID:10496263|PMID:12391354|PMID:12707079|PMID:12874420|PMID:15303002|PMID:15389992|PMID:15852365|PMID:17044972|PMID:17101830|PMID:17576681|PMID:17898029|PMID:18044725|PMID:19234759|PMID:19332422|PMID:19491146|PMID:20842687|PMID:22373569|PMID:23430498|PMID:24033266|PMID:24509643|PMID:24993959|PMID:25125585|PMID:25150291|PMID:25398234|PMID:25416181|PMID:25497597|PMID:25741868|PMID:26230973|PMID:26467025|PMID:27185167|PMID:27217339|PMID:27246466|PMID:27313105|PMID:28492532|PMID:29471552|PMID:29948246|PMID:30314816|PMID:30894892|PMID:31213404|PMID:33713342|PMID:34054692|PMID:35083481|PMID:7730309|PMID:7869202|PMID:8852666|PMID:9328244|PMID:9536098|PMID:9667588|PMID:9886460 12250868 GCH1 GTP cyclohydrolase 1 gene DOID:1059 intellectual disability ISO RGD:1345739 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:30314816|PMID:34426522|PMID:9667588 12250868 GCH1 GTP cyclohydrolase 1 gene DOID:10763 hypertension ISO RGD:1345739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12855421 12250868 GCH1 GTP cyclohydrolase 1 gene DOID:1826 epilepsy ISO RGD:1345739 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12250868 GCH1 GTP cyclohydrolase 1 gene DOID:3312 bipolar disorder ISO RGD:1345739 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15909293|REF_RGD_ID:1601281 12250868 GCH1 GTP cyclohydrolase 1 gene DOID:535 sleep disorder ISO RGD:1345739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sleep disturbance PMID:25741868 12250868 GCH1 GTP cyclohydrolase 1 gene DOID:543 dystonia ISO RGD:1345739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder 12250868 GCH1 GTP cyclohydrolase 1 gene DOID:630 genetic disease ISO RGD:1345739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12391354|PMID:15303002|PMID:17044972|PMID:18044725|PMID:19234759|PMID:19332422|PMID:19491146|PMID:23430498|PMID:24993959|PMID:25181484|PMID:25497597|PMID:25741868|PMID:26467025|PMID:27313105|PMID:28492532|PMID:29471552|PMID:30314816|PMID:30894892|PMID:35083481|PMID:8852666|PMID:9566388|PMID:9667588|PMID:9778264|PMID:9886460 12250868 GCH1 GTP cyclohydrolase 1 gene DOID:9000641 Pain ISO RGD:1345739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19081190 12250868 GCH1 GTP cyclohydrolase 1 gene DOID:9000831 Hypokinesia ISO RGD:1345739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17368676 12250868 GCH1 GTP cyclohydrolase 1 gene DOID:9001480 Muscle Rigidity ISO RGD:1345739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17368676 12250868 GCH1 GTP cyclohydrolase 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1345739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive PMID:10987649|PMID:12112113|PMID:12391354|PMID:12552057|PMID:1449240|PMID:15303002|PMID:15753436|PMID:16917893|PMID:17044972|PMID:17898029|PMID:18044725|PMID:19234759|PMID:19332422|PMID:21412842|PMID:23430498|PMID:24993959|PMID:25497597|PMID:25741868|PMID:26467025|PMID:27313105|PMID:28492532|PMID:29471552|PMID:30314816|PMID:30894892|PMID:34426522|PMID:35083481|PMID:8298648|PMID:8852666|PMID:9667588|PMID:9886460 12250868 GCH1 GTP cyclohydrolase 1 gene DOID:9005228 Musculoskeletal Pain ISO RGD:1345739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25218601 12250868 GCH1 GTP cyclohydrolase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1345739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12250868 GCH1 GTP cyclohydrolase 1 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:1345739 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15659429 12250868 GCH1 GTP cyclohydrolase 1 gene DOID:9281 phenylketonuria ISO RGD:1345739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuric PMID:15389992|PMID:19491146|PMID:24993959|PMID:25125585|PMID:25398234|PMID:25497597|PMID:25741868|PMID:26230973|PMID:26467025|PMID:27185167|PMID:27217339|PMID:28492532|PMID:30314816 12250878 DUT deoxyuridine triphosphatase gene DOID:14323 Marfan syndrome ISO RGD:1349758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:21063442|PMID:25741868|PMID:26787436|PMID:28492532 12250878 DUT deoxyuridine triphosphatase gene DOID:2717 Bloom syndrome ISO RGD:1349758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12250878 DUT deoxyuridine triphosphatase gene DOID:630 genetic disease ISO RGD:1349758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250878 DUT deoxyuridine triphosphatase gene DOID:9002189 High Myopia ISO RGD:1349758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12250878 DUT deoxyuridine triphosphatase gene DOID:9007502 Brain Neoplasms severity ISO RGD:1349758 D RGD:9068941 20200609 RGD protein:increased expression:tumor (human) PMID:16325515|REF_RGD_ID:5133680 12250878 DUT deoxyuridine triphosphatase gene DOID:9009085 Bone Marrow Failure and Diabetes Mellitus Syndrome ISO RGD:1349758 D RGD:7240710 20221116 OMIM 12250878 DUT deoxyuridine triphosphatase gene DOID:9009085 Bone Marrow Failure and Diabetes Mellitus Syndrome ISO RGD:1349758 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Bone marrow failure and diabetes mellitus syndrome PMID:28073829|PMID:35611808|PMID:35931051|PMID:9548420 12250878 DUT deoxyuridine triphosphatase gene DOID:9256 colorectal cancer ISO RGD:1349758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12250892 DDX52 DExD-box helicase 52 gene DOID:0060041 autism spectrum disorder ISO RGD:1349454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 12250892 DDX52 DExD-box helicase 52 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1349454 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 12250892 DDX52 DExD-box helicase 52 gene DOID:12849 autistic disorder ISO RGD:1349454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12250892 DDX52 DExD-box helicase 52 gene DOID:5419 schizophrenia ISO RGD:1349454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12250892 DDX52 DExD-box helicase 52 gene DOID:630 genetic disease ISO RGD:1349454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250892 DDX52 DExD-box helicase 52 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12250892 DDX52 DExD-box helicase 52 gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1349454 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 12250918 PTS 6-pyruvoyltetrahydropterin synthase gene DOID:0014667 disease of metabolism ISO RGD:68525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metabolic disease 12250918 PTS 6-pyruvoyltetrahydropterin synthase gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:68525 D RGD:7240710 20180130 OMIM 12250918 PTS 6-pyruvoyltetrahydropterin synthase gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:68525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A | ClinVar Annotator: match by term: PTS Deficiency PMID:10089284|PMID:10220141|PMID:10319579|PMID:10585341|PMID:10874306|PMID:11388593|PMID:11438997|PMID:11694255|PMID:11916314|PMID:16199547|PMID:16850690|PMID:16917893|PMID:17001642|PMID:17160954|PMID:17576681|PMID:18060820|PMID:18505119|PMID:19280650|PMID:19350512|PMID:19823873|PMID:19830588|PMID:20059486|PMID:21542064|PMID:21933604|PMID:22237589|PMID:23138986|PMID:23942198|PMID:25087612|PMID:25304915|PMID:25418970|PMID:25456745|PMID:25525159|PMID:25741868|PMID:25758715|PMID:26830550|PMID:27243974|PMID:27246466|PMID:27629047|PMID:28057123|PMID:28378820|PMID:28492532|PMID:28915855|PMID:29499199|PMID:29577258|PMID:29685341|PMID:30001213|PMID:30109838|PMID:30626930|PMID:30853107|PMID:30926181|PMID:31332730|PMID:32651154|PMID:32905092|PMID:3297709|PMID:33234470|PMID:33822819|PMID:35140743|PMID:7493990|PMID:7563095|PMID:7698774|PMID:8178819|PMID:8707300|PMID:9159737|PMID:9222757|PMID:9450907|PMID:9536098 12250918 PTS 6-pyruvoyltetrahydropterin synthase gene DOID:1059 intellectual disability ISO RGD:68525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12250918 PTS 6-pyruvoyltetrahydropterin synthase gene DOID:1826 epilepsy ISO RGD:68525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:17576681|PMID:28492532|PMID:9536098 12250918 PTS 6-pyruvoyltetrahydropterin synthase gene DOID:630 genetic disease ISO RGD:68525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11388593|PMID:16917893|PMID:17576681|PMID:18505119|PMID:22237589|PMID:23138986|PMID:25741868|PMID:27243974|PMID:28492532|PMID:29499199|PMID:29577258|PMID:32651154|PMID:33234470|PMID:9536098 12250918 PTS 6-pyruvoyltetrahydropterin synthase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:68525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12250918 PTS 6-pyruvoyltetrahydropterin synthase gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:68525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 12250918 PTS 6-pyruvoyltetrahydropterin synthase gene DOID:9008812 Hyperphenylalaninemia, BH4-Deficient, due to Partial PTS Deficiency ISO RGD:68525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency PMID:10220141|PMID:22237589|PMID:25741868|PMID:26830550|PMID:7493990|PMID:8178819 12250918 PTS 6-pyruvoyltetrahydropterin synthase gene DOID:9281 phenylketonuria ISO RGD:68525 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuric PMID:10319579|PMID:11388593|PMID:11694255|PMID:19350512|PMID:21933604|PMID:22237589|PMID:25525159|PMID:25741868|PMID:28492532|PMID:7493990|PMID:8707300|PMID:9450907 12250932 FIBIN fin bud initiation factor homolog gene DOID:1059 intellectual disability ISO RGD:1606090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12250932 FIBIN fin bud initiation factor homolog gene DOID:630 genetic disease ISO RGD:1606090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250932 FIBIN fin bud initiation factor homolog gene DOID:9775 diastolic heart failure ISO RGD:1606090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12250937 WDR87 WD repeat domain 87 gene DOID:630 genetic disease ISO RGD:1602453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12250965 TTBK1 tau tubulin kinase 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1350960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12250965 TTBK1 tau tubulin kinase 1 gene DOID:630 genetic disease ISO RGD:1350960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12250965 TTBK1 tau tubulin kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12250965 TTBK1 tau tubulin kinase 1 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1350960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 12250965 TTBK1 tau tubulin kinase 1 gene DOID:905 Zellweger syndrome ISO RGD:1350960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12250985 RAB33B RAB33B, member RAS oncogene family gene DOID:0060247 Smith-McCort dysplasia ISO RGD:1318074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-McCort dysplasia 12250985 RAB33B RAB33B, member RAS oncogene family gene DOID:0080006 bone development disease ISO RGD:1318074 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 12250985 RAB33B RAB33B, member RAS oncogene family gene DOID:0081271 Smith-McCort dysplasia 2 ISO RGD:1318074 D RGD:7240710 20180130 OMIM 12250985 RAB33B RAB33B, member RAS oncogene family gene DOID:0081271 Smith-McCort dysplasia 2 ISO RGD:1318074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-McCort dysplasia 2 PMID:16470731|PMID:22652534|PMID:23042644|PMID:25741868|PMID:28127940|PMID:28492532 12250985 RAB33B RAB33B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1318074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12250992 ZNF667 zinc finger protein 667 gene DOID:630 genetic disease ISO RGD:1603200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251021 STX1A syntaxin 1A gene DOID:0060041 autism spectrum disorder ISO RGD:69485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12251021 STX1A syntaxin 1A gene DOID:10487 Hirschsprung's disease ISO RGD:69485 D RGD:9068941 20200609 RGD PMID:11345516|REF_RGD_ID:1581432 12251021 STX1A syntaxin 1A gene DOID:10923 sickle cell anemia ISO RGD:69485 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12251021 STX1A syntaxin 1A gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:69485 D RGD:9068941 20200609 RGD PMID:10842016|REF_RGD_ID:1581434 12251021 STX1A syntaxin 1A gene DOID:12849 autistic disorder ISO RGD:69485 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:25741868|PMID:30208311 12251021 STX1A syntaxin 1A gene DOID:150 disease of mental health ISO RGD:69486 D RGD:9068941 20220825 MouseDO 12251021 STX1A syntaxin 1A gene DOID:1826 epilepsy ISO RGD:69485 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868 12251021 STX1A syntaxin 1A gene DOID:1928 Williams-Beuren syndrome ISO RGD:69485 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 12251021 STX1A syntaxin 1A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12251021 STX1A syntaxin 1A gene DOID:5419 schizophrenia ISO RGD:69485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12251021 STX1A syntaxin 1A gene DOID:630 genetic disease ISO RGD:69485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251021 STX1A syntaxin 1A gene DOID:8445 intestinal volvulus ISO RGD:69485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12251021 STX1A syntaxin 1A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12251021 STX1A syntaxin 1A gene DOID:9008419 Volvulus Of Midgut ISO RGD:69485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12251038 AATF apoptosis antagonizing transcription factor gene DOID:0060041 autism spectrum disorder ISO RGD:734398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 12251038 AATF apoptosis antagonizing transcription factor gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:734398 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 12251038 AATF apoptosis antagonizing transcription factor gene DOID:12849 autistic disorder ISO RGD:734398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12251038 AATF apoptosis antagonizing transcription factor gene DOID:5419 schizophrenia ISO RGD:734398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12251038 AATF apoptosis antagonizing transcription factor gene DOID:630 genetic disease ISO RGD:734398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251038 AATF apoptosis antagonizing transcription factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12251038 AATF apoptosis antagonizing transcription factor gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:734398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 12251112 MCHR1 melanin concentrating hormone receptor 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:733421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12251112 MCHR1 melanin concentrating hormone receptor 1 gene DOID:11981 morbid obesity onset ISO RGD:733421 D RGD:9068941 20200609 RGD DNA:SNP:promoter PMID:16186414|REF_RGD_ID:1624359 12251112 MCHR1 melanin concentrating hormone receptor 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:733421 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:15706485|PMID:24476420|PMID:28492532 12251112 MCHR1 melanin concentrating hormone receptor 1 gene DOID:630 genetic disease ISO RGD:733421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251112 MCHR1 melanin concentrating hormone receptor 1 gene DOID:9970 obesity ISO RGD:619841 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus PMID:15363890|REF_RGD_ID:1624360 12251127 CERK ceramide kinase gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1312799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12251127 CERK ceramide kinase gene DOID:1059 intellectual disability ISO RGD:1312799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12251127 CERK ceramide kinase gene DOID:630 genetic disease ISO RGD:1312799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251127 CERK ceramide kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312799 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12251143 GPX7 glutathione peroxidase 7 gene DOID:630 genetic disease ISO RGD:1315932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251143 GPX7 glutathione peroxidase 7 gene DOID:7941 Barrett's adenocarcinoma ISO RGD:1315932 D RGD:9068941 20220630 RGD DNA:hypermethylation:promoter PMID:18664505|REF_RGD_ID:151665749 12251143 GPX7 glutathione peroxidase 7 gene DOID:9206 Barrett's esophagus ISO RGD:1315932 D RGD:9068941 20220630 RGD DNA:hypermethylation:promoter PMID:18664505|REF_RGD_ID:151665749 12251149 R3HCC1 R3H domain and coiled-coil containing 1 gene DOID:630 genetic disease ISO RGD:1603166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251149 R3HCC1 R3H domain and coiled-coil containing 1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1603166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12251163 SEMA5A semaphorin 5A gene DOID:1059 intellectual disability ISO RGD:1318544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12251163 SEMA5A semaphorin 5A gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1318544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25648254 12251163 SEMA5A semaphorin 5A gene DOID:12849 autistic disorder ISO RGD:1318544 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17028446 12251163 SEMA5A semaphorin 5A gene DOID:630 genetic disease ISO RGD:1318544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251207 ACSF2 acyl-CoA synthetase family member 2 gene DOID:630 genetic disease ISO RGD:1604594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251227 KCNK5 potassium two pore domain channel subfamily K member 5 gene DOID:1824 status epilepticus ISO RGD:1345390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19220408 12251227 KCNK5 potassium two pore domain channel subfamily K member 5 gene DOID:630 genetic disease ISO RGD:1345390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251237 FFAR2 free fatty acid receptor 2 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1347517 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12251237 FFAR2 free fatty acid receptor 2 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1347517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12251237 FFAR2 free fatty acid receptor 2 gene DOID:10825 essential hypertension ISO RGD:1347517 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 12251237 FFAR2 free fatty acid receptor 2 gene DOID:543 dystonia ISO RGD:1347517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12251237 FFAR2 free fatty acid receptor 2 gene DOID:630 genetic disease ISO RGD:1347517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251246 BPIFB3 BPI fold containing family B member 3 gene DOID:630 genetic disease ISO RGD:1604466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251266 ITGB6 integrin subunit beta 6 gene DOID:0110064 amelogenesis imperfecta type 1H ISO RGD:1346382 D RGD:7240710 20180130 OMIM 12251266 ITGB6 integrin subunit beta 6 gene DOID:0110064 amelogenesis imperfecta type 1H ISO RGD:1346382 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H PMID:14970781|PMID:16838342|PMID:24305999|PMID:24319098|PMID:25741868|PMID:28492532|PMID:9189626 12251266 ITGB6 integrin subunit beta 6 gene DOID:10283 prostate cancer ISO RGD:1346382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12251266 ITGB6 integrin subunit beta 6 gene DOID:10907 microcephaly ISO RGD:1346382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12251266 ITGB6 integrin subunit beta 6 gene DOID:12849 autistic disorder ISO RGD:1346382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 12251266 ITGB6 integrin subunit beta 6 gene DOID:2841 asthma ISO RGD:1552765 D RGD:9068941 20220825 MouseDO OMIM:600807 12251266 ITGB6 integrin subunit beta 6 gene DOID:409 liver disease ISO RGD:1346382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18221819 12251266 ITGB6 integrin subunit beta 6 gene DOID:417 autoimmune disease ISO RGD:1346382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 12251266 ITGB6 integrin subunit beta 6 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1346382 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;mRNA:increased expression:liver PMID:18221819|REF_RGD_ID:2302245 12251266 ITGB6 integrin subunit beta 6 gene DOID:630 genetic disease ISO RGD:1346382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251266 ITGB6 integrin subunit beta 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1303119 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:18538673|REF_RGD_ID:2302244 12251266 ITGB6 integrin subunit beta 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18221819 12251266 ITGB6 integrin subunit beta 6 gene DOID:9003281 Spontaneous Abortions ISO RGD:1346382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12251266 ITGB6 integrin subunit beta 6 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1346382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18221819 12251266 ITGB6 integrin subunit beta 6 gene DOID:9446 cholangitis ISO RGD:1346382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 12251266 ITGB6 integrin subunit beta 6 gene DOID:9675 pulmonary emphysema ISO RGD:1346382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12634787 12251266 ITGB6 integrin subunit beta 6 gene DOID:9675 pulmonary emphysema ISO RGD:1552765 D RGD:9068941 20200609 RGD PMID:12634787|REF_RGD_ID:737734 12251266 ITGB6 integrin subunit beta 6 gene DOID:9675 pulmonary emphysema ISO RGD:1552765 D RGD:9068941 20220825 MouseDO OMIM:130700 12251302 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:0060041 autism spectrum disorder ISO RGD:733821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12251302 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:1059 intellectual disability ISO RGD:733821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:15970596|PMID:19946266|PMID:20007474|PMID:25741868|PMID:25864721|PMID:29220673 12251302 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:11830 myopia ISO RGD:733821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 12251302 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:12704 ataxia telangiectasia ISO RGD:733821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12251302 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:303 substance-related disorder ISO RGD:733821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12251302 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:5419 schizophrenia susceptibility ISO RGD:733821 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:exon, introns: A>G (rs609239), A>G (rs641574), A>G (rs659840) (human) PMID:12497607|REF_RGD_ID:1358642 12251302 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:630 genetic disease ISO RGD:733821 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15970596|PMID:19946266|PMID:20007474|PMID:25741868|PMID:25864721|PMID:28492532|PMID:29220673 12251302 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12251302 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:9008086 Developmental Disabilities ISO RGD:733821 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12251302 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:9009124 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES ISO RGD:733821 D RGD:7240710 20190315 OMIM 12251302 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:9009124 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES ISO RGD:733821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without seizures and gait abnormalities PMID:15970596|PMID:19946266|PMID:20007474|PMID:25741868|PMID:25864721|PMID:29220673 12251302 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:9970 obesity ISO RGD:733821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity 12251347 S100A8 S100 calcium binding protein A8 gene DOID:0111940 immunodeficiency 42 ISO RGD:1349531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12251347 S100A8 S100 calcium binding protein A8 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1349531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12251347 S100A8 S100 calcium binding protein A8 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1349531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12251347 S100A8 S100 calcium binding protein A8 gene DOID:11054 urinary bladder cancer ISO RGD:1349531 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:17970044|REF_RGD_ID:2316906 12251347 S100A8 S100 calcium binding protein A8 gene DOID:11054 urinary bladder cancer ISO RGD:620265 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:17970044|REF_RGD_ID:2316906 12251347 S100A8 S100 calcium binding protein A8 gene DOID:11054 urinary bladder cancer ISO RGD:733916 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:17970044|REF_RGD_ID:2316906 12251347 S100A8 S100 calcium binding protein A8 gene DOID:1540 parathyroid carcinoma ISO RGD:1349531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12251347 S100A8 S100 calcium binding protein A8 gene DOID:2773 contact dermatitis ISO RGD:1349531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12251347 S100A8 S100 calcium binding protein A8 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1349531 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 12251347 S100A8 S100 calcium binding protein A8 gene DOID:3310 atopic dermatitis ISO RGD:1349531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18336422 12251347 S100A8 S100 calcium binding protein A8 gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:1349531 D RGD:9068941 20220303 RGD protein:increased expression:blood (human) PMID:32663515|REF_RGD_ID:151660329 12251347 S100A8 S100 calcium binding protein A8 gene DOID:5812 MHC class II deficiency ISO RGD:1349531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12251347 S100A8 S100 calcium binding protein A8 gene DOID:630 genetic disease ISO RGD:1349531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251347 S100A8 S100 calcium binding protein A8 gene DOID:820 myocarditis ISO RGD:1349531 D RGD:9068941 20200609 RGD PMID:19151078|REF_RGD_ID:2316903 12251347 S100A8 S100 calcium binding protein A8 gene DOID:9000058 Keloid ISO RGD:1349531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12251347 S100A8 S100 calcium binding protein A8 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1349531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22248470 12251347 S100A8 S100 calcium binding protein A8 gene DOID:9002457 Experimental Arthritis ISO RGD:620265 D RGD:9068941 20200609 RGD PMID:8343166|REF_RGD_ID:633930 12251347 S100A8 S100 calcium binding protein A8 gene DOID:9005372 Inflammation ISO RGD:620265 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15221771|REF_RGD_ID:2316912 12251347 S100A8 S100 calcium binding protein A8 gene DOID:9119 acute myeloid leukemia ISO RGD:1349531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21971985 12251347 S100A8 S100 calcium binding protein A8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12251354 FITM1 fat storage inducing transmembrane protein 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1603355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12251354 FITM1 fat storage inducing transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1603355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251354 FITM1 fat storage inducing transmembrane protein 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1603355 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12251354 FITM1 fat storage inducing transmembrane protein 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1603355 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12251360 SRFBP1 serum response factor binding protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603357 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12251360 SRFBP1 serum response factor binding protein 1 gene DOID:0080685 aortic dissection ISO RGD:1603357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute aortic dissection PMID:12417550|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:31211696|PMID:31459939 12251360 SRFBP1 serum response factor binding protein 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1603357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12417550|PMID:24033266|PMID:25741868|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:31211696|PMID:31459939|PMID:34281165 12251360 SRFBP1 serum response factor binding protein 1 gene DOID:3144 cutis laxa ISO RGD:1603357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:25741868 12251360 SRFBP1 serum response factor binding protein 1 gene DOID:630 genetic disease ISO RGD:1603357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26838787|PMID:28492532|PMID:29961567 12251360 SRFBP1 serum response factor binding protein 1 gene DOID:65 connective tissue disease ISO RGD:1603357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 12251360 SRFBP1 serum response factor binding protein 1 gene DOID:9000442 Familial Thoracic Aortic Aneurysm 10 ISO RGD:1603357 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-Related Disorder | ClinVar Annotator: match by term: LOX-related disorders PMID:12417550|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25017124|PMID:25741868|PMID:26838787|PMID:27432961|PMID:28492532|PMID:29086201|PMID:29961567|PMID:30675029|PMID:31211624|PMID:31506931|PMID:32860008|PMID:33648514|PMID:34281165|PMID:9536098 12251360 SRFBP1 serum response factor binding protein 1 gene DOID:9002884 Emphysema ISO RGD:1603357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emphysema PMID:25741868 12251360 SRFBP1 serum response factor binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12251360 SRFBP1 serum response factor binding protein 1 gene DOID:9005883 Pleural Effusion ISO RGD:1603357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleural effusion PMID:25741868 12251360 SRFBP1 serum response factor binding protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603357 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12251360 SRFBP1 serum response factor binding protein 1 gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:1603357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial aortic dissection | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:12417550|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:31211696|PMID:31459939 12251360 SRFBP1 serum response factor binding protein 1 gene DOID:9675 pulmonary emphysema ISO RGD:1603357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary emphysema PMID:25741868 12251375 IZUMO4 IZUMO family member 4 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1349340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12251375 IZUMO4 IZUMO family member 4 gene DOID:5339 cyclic hematopoiesis ISO RGD:1349340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12251375 IZUMO4 IZUMO family member 4 gene DOID:630 genetic disease ISO RGD:1349340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251375 IZUMO4 IZUMO family member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12251389 ZNF599 zinc finger protein 599 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603572 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12251389 ZNF599 zinc finger protein 599 gene DOID:630 genetic disease ISO RGD:1603572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251402 ZNF570 zinc finger protein 570 gene DOID:630 genetic disease ISO RGD:1349071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251460 CD34 CD34 molecule gene DOID:0050589 inflammatory bowel disease ISO RGD:1315723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 12251460 CD34 CD34 molecule gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1315723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 12251460 CD34 CD34 molecule gene DOID:12849 autistic disorder ISO RGD:1315723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12251460 CD34 CD34 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1315723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12251460 CD34 CD34 molecule gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:1315723 D RGD:9068941 20220310 RGD PMID:32626543|REF_RGD_ID:151665104 12251460 CD34 CD34 molecule gene DOID:630 genetic disease ISO RGD:1315723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251460 CD34 CD34 molecule gene DOID:684 hepatocellular carcinoma ISO RGD:1315723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12251460 CD34 CD34 molecule gene DOID:8947 diabetic retinopathy ISO RGD:1306863 D RGD:9068941 20210219 RGD mRNA, protein:increased expression:retina PMID:31759996|REF_RGD_ID:41410819 12251460 CD34 CD34 molecule gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1315723 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12251460 CD34 CD34 molecule gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1315723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 12251460 CD34 CD34 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12251470 HSPA4L heat shock protein family A (Hsp70) member 4 like gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1350877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:19177532|PMID:28492532 12251470 HSPA4L heat shock protein family A (Hsp70) member 4 like gene DOID:630 genetic disease ISO RGD:1350877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251497 UST uronyl 2-sulfotransferase gene DOID:0060224 atrial fibrillation ISO RGD:1312363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12251497 UST uronyl 2-sulfotransferase gene DOID:289 endometriosis ISO RGD:1312363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12251497 UST uronyl 2-sulfotransferase gene DOID:630 genetic disease ISO RGD:1312363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251513 DDX39A DExD-box helicase 39A gene DOID:630 genetic disease ISO RGD:1350107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251532 MTG2 mitochondrial ribosome associated GTPase 2 gene DOID:630 genetic disease ISO RGD:1344224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251543 FCHO2 FCH and mu domain containing endocytic adaptor 2 gene DOID:630 genetic disease ISO RGD:1348405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251543 FCHO2 FCH and mu domain containing endocytic adaptor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12251572 CCDC33 coiled-coil domain containing 33 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12251572 CCDC33 coiled-coil domain containing 33 gene DOID:2717 Bloom syndrome ISO RGD:1602211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12251572 CCDC33 coiled-coil domain containing 33 gene DOID:5419 schizophrenia ISO RGD:1602211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12251572 CCDC33 coiled-coil domain containing 33 gene DOID:630 genetic disease ISO RGD:1602211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251572 CCDC33 coiled-coil domain containing 33 gene DOID:9256 colorectal cancer ISO RGD:1602211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12251615 GRB14 growth factor receptor bound protein 14 gene DOID:630 genetic disease ISO RGD:732013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251615 GRB14 growth factor receptor bound protein 14 gene DOID:9004657 Weight Gain ISO RGD:732013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12251615 GRB14 growth factor receptor bound protein 14 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21874001 12251639 SGF29 SAGA complex associated factor 29 gene DOID:0060041 autism spectrum disorder ISO RGD:1604249 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12251639 SGF29 SAGA complex associated factor 29 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 12251639 SGF29 SAGA complex associated factor 29 gene DOID:5419 schizophrenia ISO RGD:1604249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12251639 SGF29 SAGA complex associated factor 29 gene DOID:630 genetic disease ISO RGD:1604249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251639 SGF29 SAGA complex associated factor 29 gene DOID:8947 diabetic retinopathy severity ISO RGD:1604249 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1; DNA:SNP:intron: rs10521145(human) PMID:21441570|REF_RGD_ID:9587455 12251639 SGF29 SAGA complex associated factor 29 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604249 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12251664 TRAF3IP3 TRAF3 interacting protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1604284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12251664 TRAF3IP3 TRAF3 interacting protein 3 gene DOID:630 genetic disease ISO RGD:1604284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251664 TRAF3IP3 TRAF3 interacting protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12251697 TADA2A transcriptional adaptor 2A gene DOID:0060041 autism spectrum disorder ISO RGD:1320582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 12251697 TADA2A transcriptional adaptor 2A gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1320582 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 12251697 TADA2A transcriptional adaptor 2A gene DOID:12849 autistic disorder ISO RGD:1320582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12251697 TADA2A transcriptional adaptor 2A gene DOID:5419 schizophrenia ISO RGD:1320582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12251697 TADA2A transcriptional adaptor 2A gene DOID:630 genetic disease ISO RGD:1320582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251697 TADA2A transcriptional adaptor 2A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12251697 TADA2A transcriptional adaptor 2A gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1320582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 12251725 CHM CHM Rab escort protein gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12251725 CHM CHM Rab escort protein gene DOID:10584 retinitis pigmentosa ISO RGD:732475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:19422966|PMID:23811034|PMID:25741868|PMID:28492532|PMID:28559085|PMID:30718709|PMID:9067750 12251725 CHM CHM Rab escort protein gene DOID:12849 autistic disorder ISO RGD:732475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12251725 CHM CHM Rab escort protein gene DOID:630 genetic disease ISO RGD:732475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12251725 CHM CHM Rab escort protein gene DOID:8499 night blindness ISO RGD:732475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Night blindness PMID:25741868 12251725 CHM CHM Rab escort protein gene DOID:8501 fundus dystrophy ISO RGD:732475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10447648|PMID:11139690|PMID:12203991|PMID:12827496|PMID:1598901|PMID:16199547|PMID:16936131|PMID:19427510|PMID:21905166|PMID:23811034|PMID:25741868|PMID:26133251|PMID:27247961|PMID:28041643|PMID:28098911|PMID:28112135|PMID:28492532|PMID:28752371|PMID:29555028|PMID:30297895|PMID:30541579|PMID:9067750|PMID:9175730 12251725 CHM CHM Rab escort protein gene DOID:9008296 Eye Abnormalities ISO RGD:732475 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643 12251725 CHM CHM Rab escort protein gene DOID:9821 Choroideremia ISO RGD:732475 D RGD:7240710 20180130 OMIM 12251725 CHM CHM Rab escort protein gene DOID:9821 Choroideremia ISO RGD:732475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Choroideremia | ClinVar Annotator: match by term: Choroideremia, Salla type PMID:1044764|PMID:10447648|PMID:11139690|PMID:12203991|PMID:12827496|PMID:1302003|PMID:1598901|PMID:16087855|PMID:16199547|PMID:16936131|PMID:17576681|PMID:18766988|PMID:21905166|PMID:22957832|PMID:23811034|PMID:25741868|PMID:25744334|PMID:25912515|PMID:26133251|PMID:27247961|PMID:28041643|PMID:28098911|PMID:28492532|PMID:28559085|PMID:29555028|PMID:30995293|PMID:31054281|PMID:32364220|PMID:32487042|PMID:7981670|PMID:8477262|PMID:8832720|PMID:9067750|PMID:9175730|PMID:9536098 12251747 TMEM255A transmembrane protein 255A gene DOID:0050437 Danon disease ISO RGD:1605993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 12251747 TMEM255A transmembrane protein 255A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12251747 TMEM255A transmembrane protein 255A gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1605993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 12251747 TMEM255A transmembrane protein 255A gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1605993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 12251747 TMEM255A transmembrane protein 255A gene DOID:12849 autistic disorder ISO RGD:1605993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12251747 TMEM255A transmembrane protein 255A gene DOID:630 genetic disease ISO RGD:1605993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251762 SUSD1 sushi domain containing 1 gene DOID:630 genetic disease ISO RGD:1315881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251783 TMEM106B transmembrane protein 106B gene DOID:0080600 COVID-19 ISO RGD:1603394 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33686287 12251783 TMEM106B transmembrane protein 106B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12251783 TMEM106B transmembrane protein 106B gene DOID:630 genetic disease ISO RGD:1603394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251783 TMEM106B transmembrane protein 106B gene DOID:8725 vascular dementia ISO RGD:1603394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:33268848 12251783 TMEM106B transmembrane protein 106B gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1603394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20154673 12251783 TMEM106B transmembrane protein 106B gene DOID:9009170 Hypomyelinating Leukodystrophy 16 ISO RGD:1603394 D RGD:7240710 20190315 OMIM 12251783 TMEM106B transmembrane protein 106B gene DOID:9009170 Hypomyelinating Leukodystrophy 16 ISO RGD:1603394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 16 PMID:10338095|PMID:10737981|PMID:16941474|PMID:17309651|PMID:25741868|PMID:28492532|PMID:29186371|PMID:29194508|PMID:29444210|PMID:32572497|PMID:32595021 12251798 AGO4 argonaute RISC component 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12251798 AGO4 argonaute RISC component 4 gene DOID:630 genetic disease ISO RGD:1312105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251822 MATN3 matrilin 3 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:1312907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome PMID:25741868|PMID:28492532 12251822 MATN3 matrilin 3 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1312907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:25741868|PMID:28492532 12251822 MATN3 matrilin 3 gene DOID:0070299 multiple epiphyseal dysplasia 5 ISO RGD:1312907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY | ClinVar Annotator: match by term: Microepiphyseal dysplasia, bilateral hereditary | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia, MATN3-related PMID:11479597|PMID:12736871|PMID:12884427|PMID:13849708|PMID:14729835|PMID:15459972|PMID:15948199|PMID:16199550|PMID:16287128|PMID:17517694|PMID:18205203|PMID:18518980|PMID:20301302|PMID:20428984|PMID:21922596|PMID:21965141|PMID:25741868|PMID:28146470|PMID:28492532|PMID:30080953|PMID:31724101 12251822 MATN3 matrilin 3 gene DOID:0070299 multiple epiphyseal dysplasia 5 susceptibility ISO RGD:1312907 D RGD:7240710 20230517 OMIM 12251822 MATN3 matrilin 3 gene DOID:0080804 cranioectodermal dysplasia 2 ISO RGD:1312907 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 PMID:25741868|PMID:28492532 12251822 MATN3 matrilin 3 gene DOID:0110090 short-rib thoracic dysplasia 7 with or without polydactyly ISO RGD:1312907 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly PMID:25741868|PMID:28492532 12251822 MATN3 matrilin 3 gene DOID:12721 multiple epiphyseal dysplasia ISO RGD:1312907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia PMID:11479597|PMID:14729835|PMID:15459972|PMID:15948199|PMID:16199550|PMID:16287128|PMID:17517694|PMID:18205203|PMID:18518980|PMID:20301302|PMID:20428984|PMID:21922596|PMID:21965141|PMID:25741868|PMID:28492532|PMID:31724101|PMID:34092239 12251822 MATN3 matrilin 3 gene DOID:2256 osteochondrodysplasia ISO RGD:1312907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia PMID:11479597|PMID:14729835|PMID:15459972|PMID:15948199|PMID:16199550|PMID:16287128|PMID:17517694|PMID:18205203|PMID:18518980|PMID:20301302|PMID:20428984|PMID:21922596|PMID:21965141|PMID:25741868|PMID:28492532|PMID:31724101|PMID:34092239 12251822 MATN3 matrilin 3 gene DOID:630 genetic disease ISO RGD:1312907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12251822 MATN3 matrilin 3 gene DOID:65 connective tissue disease ISO RGD:1312907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:12736871|PMID:14729835|PMID:25741868|PMID:28146470|PMID:28492532 12251822 MATN3 matrilin 3 gene DOID:8398 osteoarthritis ISO RGD:1312907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteoarthritis susceptibility 2 PMID:12736871|PMID:14729835|PMID:25741868|PMID:28492532 12251822 MATN3 matrilin 3 gene DOID:8398 osteoarthritis susceptibility ISO RGD:1312907 D RGD:7240710 20230517 OMIM 12251822 MATN3 matrilin 3 gene DOID:9007064 Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type ISO RGD:1312907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Matrilin-3 related | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, MATN3-related PMID:14729835|PMID:15121775|PMID:15459972|PMID:20301302|PMID:21965141|PMID:25741868|PMID:28492532|PMID:31724101 12251822 MATN3 matrilin 3 gene DOID:9007064 Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type susceptibility ISO RGD:1312907 D RGD:7240710 20230517 OMIM 12251833 SNX17 sorting nexin 17 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1315030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12251833 SNX17 sorting nexin 17 gene DOID:10584 retinitis pigmentosa ISO RGD:1315030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa 12251833 SNX17 sorting nexin 17 gene DOID:630 genetic disease ISO RGD:1315030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251852 VIT vitrin gene DOID:630 genetic disease ISO RGD:1353199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251874 SUCLA2 succinate-CoA ligase ADP-forming subunit beta gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1319721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12251874 SUCLA2 succinate-CoA ligase ADP-forming subunit beta gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1319721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12251874 SUCLA2 succinate-CoA ligase ADP-forming subunit beta gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1319721 D RGD:7240710 20180130 OMIM 12251874 SUCLA2 succinate-CoA ligase ADP-forming subunit beta gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1319721 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:16199547|PMID:17287286|PMID:17301081|PMID:17576681|PMID:20301762|PMID:20843780|PMID:23759946|PMID:24033266|PMID:24659738|PMID:24986829|PMID:25741868|PMID:26467025|PMID:26475597|PMID:27651038|PMID:27913098|PMID:28492532|PMID:28749033|PMID:30315573|PMID:32404165|PMID:32718099|PMID:33231368|PMID:9536098 12251874 SUCLA2 succinate-CoA ligase ADP-forming subunit beta gene DOID:1059 intellectual disability ISO RGD:1319721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12251874 SUCLA2 succinate-CoA ligase ADP-forming subunit beta gene DOID:630 genetic disease ISO RGD:1319721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:26475597|PMID:27651038|PMID:28492532|PMID:33231368 12251874 SUCLA2 succinate-CoA ligase ADP-forming subunit beta gene DOID:9008086 Developmental Disabilities ISO RGD:1319721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 12251874 SUCLA2 succinate-CoA ligase ADP-forming subunit beta gene DOID:9970 obesity ISO RGD:1319721 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12251891 UBE3B ubiquitin protein ligase E3B gene DOID:0050452 mevalonic aciduria ISO RGD:1350438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mevalonic aciduria PMID:28492532 12251891 UBE3B ubiquitin protein ligase E3B gene DOID:0111456 Kaufman oculocerebrofacial syndrome ISO RGD:1350438 D RGD:7240710 20180130 OMIM 12251891 UBE3B ubiquitin protein ligase E3B gene DOID:0111456 Kaufman oculocerebrofacial syndrome ISO RGD:1350438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome | ClinVar Annotator: match by term: Oculocerebrofacial syndrome, Kaufman type PMID:14556252|PMID:16199547|PMID:1694631|PMID:17576681|PMID:23200864|PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:9536098 12251891 UBE3B ubiquitin protein ligase E3B gene DOID:630 genetic disease ISO RGD:1350438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:9536098 12251923 CLDN14 claudin 14 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1319353 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:11163249|PMID:15880785|PMID:22246673|PMID:25741868|PMID:30303587 12251923 CLDN14 claudin 14 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1319353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12251923 CLDN14 claudin 14 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1319353 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12251923 CLDN14 claudin 14 gene DOID:0110487 autosomal recessive nonsyndromic deafness 29 ISO RGD:1319353 D RGD:7240710 20180130 OMIM 12251923 CLDN14 claudin 14 gene DOID:0110487 autosomal recessive nonsyndromic deafness 29 ISO RGD:1319353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 29 PMID:11163249|PMID:15880785|PMID:22246673|PMID:23235333|PMID:23590985|PMID:23991001|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26969326|PMID:27838790|PMID:28492532|PMID:30303587|PMID:30311386|PMID:33105617 12251923 CLDN14 claudin 14 gene DOID:10003 sensorineural hearing loss ISO RGD:1319353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 12251923 CLDN14 claudin 14 gene DOID:10983 Alport syndrome ISO RGD:1319353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alport syndrome PMID:30311386 12251923 CLDN14 claudin 14 gene DOID:630 genetic disease ISO RGD:1319353 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12251923 CLDN14 claudin 14 gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1319353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 12251923 CLDN14 claudin 14 gene DOID:9002315 Kidney Calculi ISO RGD:1319353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19561606 12251923 CLDN14 claudin 14 gene DOID:9002802 Acidoses ISO RGD:1309165 D RGD:9068941 20200609 RGD mRNA:increased expression:duodenum PMID:17383680|REF_RGD_ID:1600867 12251923 CLDN14 claudin 14 gene DOID:9003879 Vein of Galen Aneurysm ISO RGD:1319353 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galen vein aneurysm PMID:30578106 12251923 CLDN14 claudin 14 gene DOID:9004538 Hearing Loss ISO RGD:1319353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:11163249|PMID:15880785|PMID:22246673|PMID:23235333|PMID:25741868|PMID:28492532|PMID:30303587|PMID:30311386 12251923 CLDN14 claudin 14 gene DOID:9008681 Deafness ISO RGD:1319353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11163249 12251923 CLDN14 claudin 14 gene DOID:9008681 Deafness susceptibility ISO RGD:1319353 D RGD:9068941 20200609 RGD DNA:deletion, missense mutation: :398delT, p.V85D PMID:11163249|REF_RGD_ID:1600866 12251933 EPHA3 EPH receptor A3 gene DOID:0060224 atrial fibrillation ISO RGD:68566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12251933 EPHA3 EPH receptor A3 gene DOID:1793 pancreatic cancer ISO RGD:68566 D RGD:9068941 20200609 RGD PMID:14670182|REF_RGD_ID:2317720 12251933 EPHA3 EPH receptor A3 gene DOID:630 genetic disease ISO RGD:68566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251933 EPHA3 EPH receptor A3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:68389 D RGD:9068941 20200609 RGD PMID:16083359|REF_RGD_ID:2301766 12251933 EPHA3 EPH receptor A3 gene DOID:9000972 Fever ISO RGD:68389 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung, liver PMID:15671251|REF_RGD_ID:1581943 12251955 NPAT nuclear protein, coactivator of histone transcription gene DOID:1059 intellectual disability ISO RGD:1323667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12251955 NPAT nuclear protein, coactivator of histone transcription gene DOID:12704 ataxia telangiectasia ISO RGD:1323667 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532|PMID:31671381 12251955 NPAT nuclear protein, coactivator of histone transcription gene DOID:14723 beta-ketothiolase deficiency ISO RGD:1323667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:28492532 12251955 NPAT nuclear protein, coactivator of histone transcription gene DOID:630 genetic disease ISO RGD:1323667 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12251955 NPAT nuclear protein, coactivator of histone transcription gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1323667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12251977 PYGO2 pygopus family PHD finger 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1343524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12251977 PYGO2 pygopus family PHD finger 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1343524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12251977 PYGO2 pygopus family PHD finger 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1343524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12251977 PYGO2 pygopus family PHD finger 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1343524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12251977 PYGO2 pygopus family PHD finger 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1343524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12251977 PYGO2 pygopus family PHD finger 2 gene DOID:5812 MHC class II deficiency ISO RGD:1343524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12251977 PYGO2 pygopus family PHD finger 2 gene DOID:630 genetic disease ISO RGD:1343524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251977 PYGO2 pygopus family PHD finger 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12251984 FBXO34 F-box protein 34 gene DOID:630 genetic disease ISO RGD:1320823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251996 TRMT61A tRNA methyltransferase 61A gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1343016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12251996 TRMT61A tRNA methyltransferase 61A gene DOID:630 genetic disease ISO RGD:1343016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12251996 TRMT61A tRNA methyltransferase 61A gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1343016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 12252003 ACTRT1 actin related protein T1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12252003 ACTRT1 actin related protein T1 gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1605289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:17142121 12252003 ACTRT1 actin related protein T1 gene DOID:12849 autistic disorder ISO RGD:1605289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12252003 ACTRT1 actin related protein T1 gene DOID:630 genetic disease ISO RGD:1605289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252008 TMEM18 transmembrane protein 18 gene DOID:630 genetic disease ISO RGD:1344776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252008 TMEM18 transmembrane protein 18 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 12252008 TMEM18 transmembrane protein 18 gene DOID:9970 obesity ISO RGD:1344776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19079261 12252016 FBXO25 F-box protein 25 gene DOID:630 genetic disease ISO RGD:1603223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252038 PHF20L1 PHD finger protein 20 like 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1606010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28492532 12252038 PHF20L1 PHD finger protein 20 like 1 gene DOID:14264 benign neonatal seizures ISO RGD:1606010 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 12252038 PHF20L1 PHD finger protein 20 like 1 gene DOID:630 genetic disease ISO RGD:1606010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252074 NPPA natriuretic peptide A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:730878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12252074 NPPA natriuretic peptide A gene DOID:0050685 small cell carcinoma ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18717826 12252074 NPPA natriuretic peptide A gene DOID:0060036 intrinsic cardiomyopathy ISO RGD:730878 D RGD:9068941 20221110 RGD protein:increased expression:heart (human) PMID:27249171|REF_RGD_ID:155646134 12252074 NPPA natriuretic peptide A gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:730878 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12252074 NPPA natriuretic peptide A gene DOID:0080662 atrial standstill 1 ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12252074 NPPA natriuretic peptide A gene DOID:0080663 atrial standstill 2 ISO RGD:730878 D RGD:7240710 20180130 OMIM 12252074 NPPA natriuretic peptide A gene DOID:0080663 atrial standstill 2 ISO RGD:730878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial standstill 2 PMID:23275345|PMID:28492532|PMID:6225642 12252074 NPPA natriuretic peptide A gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:730878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 PMID:28492532 12252074 NPPA natriuretic peptide A gene DOID:1073 renal hypertension ISO RGD:3193 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:20139323|REF_RGD_ID:7248593 12252074 NPPA natriuretic peptide A gene DOID:1073 renal hypertension ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8763405 12252074 NPPA natriuretic peptide A gene DOID:1073 renal hypertension ISO RGD:730878 D RGD:9068941 20200609 RGD PMID:15241786|REF_RGD_ID:7248617 12252074 NPPA natriuretic peptide A gene DOID:1073 renal hypertension ISO RGD:730878 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:plasma PMID:12697975|REF_RGD_ID:7248660 12252074 NPPA natriuretic peptide A gene DOID:10763 hypertension ISO RGD:11003 D RGD:9068941 20220825 MouseDO 12252074 NPPA natriuretic peptide A gene DOID:10763 hypertension ISO RGD:3193 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:20139323|REF_RGD_ID:7248593 12252074 NPPA natriuretic peptide A gene DOID:10763 hypertension ISO RGD:730878 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12940879|PMID:19219041|PMID:24039778|PMID:2526952|PMID:32147540|PMID:7839143|PMID:8188982|PMID:9869009 12252074 NPPA natriuretic peptide A gene DOID:114 heart disease ISO RGD:730878 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma PMID:12916000|REF_RGD_ID:2313591 12252074 NPPA natriuretic peptide A gene DOID:114 heart disease ISO RGD:730878 D RGD:9068941 20221027 RGD mRNA, protein:increased expression:heart (human) PMID:26597775|REF_RGD_ID:11554891 12252074 NPPA natriuretic peptide A gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:3193 D RGD:9068941 20200609 RGD protein:decreased expression:cardiomyocyte PMID:25820375|REF_RGD_ID:13792650 12252074 NPPA natriuretic peptide A gene DOID:11984 hypertrophic cardiomyopathy treatment ISO RGD:11003 D RGD:9068941 20221110 RGD protein:increased expression:heart (human) PMID:27249171|REF_RGD_ID:155646134 12252074 NPPA natriuretic peptide A gene DOID:12930 dilated cardiomyopathy ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11986409|PMID:16762803 12252074 NPPA natriuretic peptide A gene DOID:12930 dilated cardiomyopathy ISO RGD:730878 D RGD:9068941 20230415 RGD mRNA,protein:increased expression:heart (human) PMID:24275554|REF_RGD_ID:11252017 12252074 NPPA natriuretic peptide A gene DOID:13832 patent ductus arteriosus ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1421905 12252074 NPPA natriuretic peptide A gene DOID:1909 melanoma ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18004088 12252074 NPPA natriuretic peptide A gene DOID:2316 brain ischemia no_association ISO RGD:730878 D RGD:9068941 20200609 RGD DNA:polymorphism:G664A PMID:11706124|REF_RGD_ID:1626244 12252074 NPPA natriuretic peptide A gene DOID:2527 nephrosis ISO RGD:3193 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8289999|REF_RGD_ID:7247315 12252074 NPPA natriuretic peptide A gene DOID:2921 glomerulonephritis ISO RGD:730878 D RGD:9068941 20200609 RGD associated with Streptococcal Infections;protein:increased expression:plasma PMID:12654066|REF_RGD_ID:7248663 12252074 NPPA natriuretic peptide A gene DOID:299 adenocarcinoma ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18225537 12252074 NPPA natriuretic peptide A gene DOID:3021 acute kidney failure ISO RGD:3193 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:22209992|REF_RGD_ID:7247715 12252074 NPPA natriuretic peptide A gene DOID:3021 acute kidney failure ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1825077|PMID:19298916|PMID:2948068 12252074 NPPA natriuretic peptide A gene DOID:3393 coronary artery disease ISO RGD:730878 D RGD:9068941 20200609 RGD DNA:snp:cds:c.2238T>C (human) PMID:12514664|REF_RGD_ID:1579982 12252074 NPPA natriuretic peptide A gene DOID:3393 coronary artery disease ISO RGD:730878 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:exon: 2238T>C,rs5065 (human) PMID:22170009|REF_RGD_ID:7247716 12252074 NPPA natriuretic peptide A gene DOID:4248 coronary stenosis ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12721106 12252074 NPPA natriuretic peptide A gene DOID:5082 liver cirrhosis ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15613622 12252074 NPPA natriuretic peptide A gene DOID:5199 ureteral obstruction ISO RGD:11003 D RGD:9068941 20200609 RGD protein, mRNA:increased expression:plasma, kidney: PMID:19223006|REF_RGD_ID:7247722 12252074 NPPA natriuretic peptide A gene DOID:5199 ureteral obstruction ISO RGD:3193 D RGD:9068941 20200609 RGD PMID:19223006|REF_RGD_ID:7247722 12252074 NPPA natriuretic peptide A gene DOID:5199 ureteral obstruction ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26207612 12252074 NPPA natriuretic peptide A gene DOID:57 aortic valve insufficiency ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 12252074 NPPA natriuretic peptide A gene DOID:5844 myocardial infarction ISO RGD:3193 D RGD:9068941 20200609 RGD PMID:16087130|REF_RGD_ID:1580000 12252074 NPPA natriuretic peptide A gene DOID:5844 myocardial infarction ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11743230|PMID:9527094 12252074 NPPA natriuretic peptide A gene DOID:5844 myocardial infarction ISO RGD:730878 D RGD:9068941 20200609 RGD DNA:snp:cds:c.2238T>C (human) PMID:12514664|REF_RGD_ID:1579982 12252074 NPPA natriuretic peptide A gene DOID:6000 congestive heart failure ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11136700|PMID:16101196|PMID:1647690|PMID:8112904 12252074 NPPA natriuretic peptide A gene DOID:6000 congestive heart failure ISO RGD:730878 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart,plasma PMID:11421854|REF_RGD_ID:1580139 12252074 NPPA natriuretic peptide A gene DOID:6000 congestive heart failure ISO RGD:730878 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:2143809|REF_RGD_ID:1580140 12252074 NPPA natriuretic peptide A gene DOID:6000 congestive heart failure severity ISO RGD:730878 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23566312|REF_RGD_ID:7247714 12252074 NPPA natriuretic peptide A gene DOID:6000 congestive heart failure treatment ISO RGD:3193 D RGD:9068941 20200609 RGD PMID:23931972|REF_RGD_ID:7297049 12252074 NPPA natriuretic peptide A gene DOID:630 genetic disease ISO RGD:730878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12252074 NPPA natriuretic peptide A gene DOID:6432 pulmonary hypertension ISO RGD:3193 D RGD:9068941 20200609 RGD PMID:2136863|REF_RGD_ID:7247720 12252074 NPPA natriuretic peptide A gene DOID:784 chronic kidney disease disease_progression ISO RGD:730878 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19052536|REF_RGD_ID:7247723 12252074 NPPA natriuretic peptide A gene DOID:8283 peritonitis ISO RGD:730878 D RGD:9068941 20200609 RGD PMID:23422200|REF_RGD_ID:7247713 12252074 NPPA natriuretic peptide A gene DOID:8725 vascular dementia ISO RGD:730878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:28492532|PMID:33268848 12252074 NPPA natriuretic peptide A gene DOID:8947 diabetic retinopathy ISO RGD:730878 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:15273657|REF_RGD_ID:2313589 12252074 NPPA natriuretic peptide A gene DOID:9000064 Cardiac Arrhythmias ISO RGD:730878 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:17460430|PMID:25741868|PMID:28492532 12252074 NPPA natriuretic peptide A gene DOID:9000641 Pain ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:13679232 12252074 NPPA natriuretic peptide A gene DOID:9000965 Neoplasm Metastasis ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18717826 12252074 NPPA natriuretic peptide A gene DOID:9001443 Hypercapnia ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11311734 12252074 NPPA natriuretic peptide A gene DOID:9002165 Diabetic Nephropathies ISO RGD:3193 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:blood PMID:10381153|REF_RGD_ID:2313592 12252074 NPPA natriuretic peptide A gene DOID:9002165 Diabetic Nephropathies ISO RGD:730878 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma PMID:10404802|REF_RGD_ID:7247731 12252074 NPPA natriuretic peptide A gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:730878 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :2238T>C (human) PMID:15111511|REF_RGD_ID:2313590 12252074 NPPA natriuretic peptide A gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:730878 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:9681733|REF_RGD_ID:2313593 12252074 NPPA natriuretic peptide A gene DOID:9002304 Prostatic Neoplasms ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18225537 12252074 NPPA natriuretic peptide A gene DOID:9002669 Hypoxia ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11311734 12252074 NPPA natriuretic peptide A gene DOID:9003919 Urination Disorders ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8318687 12252074 NPPA natriuretic peptide A gene DOID:9003936 Cardiomegaly ISO RGD:11003 D RGD:9068941 20221027 RGD mRNA, protein:increased expression:heart (mouse) PMID:26597775|REF_RGD_ID:11554891 12252074 NPPA natriuretic peptide A gene DOID:9003936 Cardiomegaly ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12224825|PMID:18056528|PMID:20886221|PMID:21242511|PMID:21297083|PMID:22083722 12252074 NPPA natriuretic peptide A gene DOID:9003936 Cardiomegaly ameliorates ISO RGD:11003 D RGD:9068941 20230415 RGD PMID:24275554|REF_RGD_ID:11252017 12252074 NPPA natriuretic peptide A gene DOID:9003936 Cardiomegaly treatment ISO RGD:11003 D RGD:9068941 20221111 RGD PMID:23188126|REF_RGD_ID:155663352 12252074 NPPA natriuretic peptide A gene DOID:9003936 Cardiomegaly treatment ISO RGD:3193 D RGD:9068941 20200609 RGD PMID:23905381|REF_RGD_ID:7297051 12252074 NPPA natriuretic peptide A gene DOID:9004283 Transplant Rejection treatment ISO RGD:730878 D RGD:9068941 20200609 RGD PMID:23826817|REF_RGD_ID:7297054 12252074 NPPA natriuretic peptide A gene DOID:9004464 Skin Neoplasms ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18004088 12252074 NPPA natriuretic peptide A gene DOID:9004610 Acute Lung Injury ISO RGD:730878 D RGD:9068941 20200609 RGD PMID:23422200|REF_RGD_ID:7247713 12252074 NPPA natriuretic peptide A gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3193 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic;mRNA:increased expression:heart PMID:24013683|REF_RGD_ID:7297044 12252074 NPPA natriuretic peptide A gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3193 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:16272201|REF_RGD_ID:1580154 12252074 NPPA natriuretic peptide A gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10755198|PMID:9455993 12252074 NPPA natriuretic peptide A gene DOID:9005172 Lung Neoplasms ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18717826 12252074 NPPA natriuretic peptide A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3193 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:15789000|REF_RGD_ID:1580773 12252074 NPPA natriuretic peptide A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3193 D RGD:9068941 20200609 RGD protein:increased expression:plasma, kidney, heart; PMID:17151304|REF_RGD_ID:7248602 12252074 NPPA natriuretic peptide A gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:730878 D RGD:9068941 20200609 RGD PMID:19298916|REF_RGD_ID:7247719 12252074 NPPA natriuretic peptide A gene DOID:9006024 Hypotension ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2951327|PMID:2961279 12252074 NPPA natriuretic peptide A gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3193 D RGD:9068941 20200609 RGD PMID:2136863|REF_RGD_ID:7247720 12252074 NPPA natriuretic peptide A gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:730878 D RGD:9068941 20200609 RGD PMID:20471588|REF_RGD_ID:7247717 12252074 NPPA natriuretic peptide A gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:3193 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23497378|REF_RGD_ID:7297056 12252074 NPPA natriuretic peptide A gene DOID:9007096 Stroke susceptibility ISO RGD:730878 D RGD:9068941 20200609 RGD DNA:missense:exon:rs5063(human) PMID:25452597|REF_RGD_ID:14696737 12252074 NPPA natriuretic peptide A gene DOID:9007096 Stroke susceptibility ISO RGD:730878 D RGD:9068941 20200609 RGD DNA:polymorphism:TC2238 PMID:15017020|REF_RGD_ID:1580137 12252074 NPPA natriuretic peptide A gene DOID:9007096 Stroke susceptibility ISO RGD:730878 D RGD:9068941 20210730 RGD DNA:SNP, missense mutation:intron 2, CDS:1837G>A, 664G>A (p.V7M) (human) PMID:10525492|REF_RGD_ID:149735577 12252074 NPPA natriuretic peptide A gene DOID:9007102 Myocardial Ischemia ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1830552 12252074 NPPA natriuretic peptide A gene DOID:9007174 Ventricular Remodeling ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20886221 12252074 NPPA natriuretic peptide A gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:11003 D RGD:9068941 20230406 RGD associated with myocardial infarction PMID:25726944|REF_RGD_ID:11252030 12252074 NPPA natriuretic peptide A gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:730878 D RGD:7240710 20180130 OMIM 12252074 NPPA natriuretic peptide A gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:730878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:15017020|PMID:17460430|PMID:17576681|PMID:17984371|PMID:18614783|PMID:19646991|PMID:19702001|PMID:20064500|PMID:20543198|PMID:22400494|PMID:22575314|PMID:22818067|PMID:23275345|PMID:23529183|PMID:23838598|PMID:24033266|PMID:24041948|PMID:25401746|PMID:25410959|PMID:25467552|PMID:25741868|PMID:26200358|PMID:26383259|PMID:28492532|PMID:30847666|PMID:31034774|PMID:31983221|PMID:33268848|PMID:33552729|PMID:6225642|PMID:9536098 12252074 NPPA natriuretic peptide A gene DOID:9009073 Diaphragmatic Hernia ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11584395 12252074 NPPA natriuretic peptide A gene DOID:9352 type 2 diabetes mellitus ISO RGD:11003 D RGD:9068941 20200609 RGD PMID:19675071|REF_RGD_ID:2313586 12252074 NPPA natriuretic peptide A gene DOID:9775 diastolic heart failure ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12252074 NPPA natriuretic peptide A gene DOID:9970 obesity ISO RGD:730878 D RGD:9068941 20200609 RGD associated with Heart Failure; PMID:23566312|REF_RGD_ID:7247714 12252081 CSMD2 CUB and Sushi multiple domains 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12252081 CSMD2 CUB and Sushi multiple domains 2 gene DOID:10283 prostate cancer ISO RGD:1347365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12252081 CSMD2 CUB and Sushi multiple domains 2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1347365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:28332277 12252081 CSMD2 CUB and Sushi multiple domains 2 gene DOID:630 genetic disease ISO RGD:1347365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252153 XKR9 XK related 9 gene DOID:630 genetic disease ISO RGD:1604439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252200 DHDDS dehydrodolichyl diphosphate synthase subunit gene DOID:0080473 developmental delay and seizures with or without movement abnormalities ISO RGD:1323083 D RGD:7240710 20190315 OMIM 12252200 DHDDS dehydrodolichyl diphosphate synthase subunit gene DOID:0080473 developmental delay and seizures with or without movement abnormalities ISO RGD:1323083 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay and seizures with or without movement abnormalities PMID:25741868|PMID:28492532|PMID:29100083|PMID:31440733|PMID:31780880|PMID:33798445|PMID:34182312|PMID:34275143|PMID:34382076|PMID:34906498 12252200 DHDDS dehydrodolichyl diphosphate synthase subunit gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1323083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 12252200 DHDDS dehydrodolichyl diphosphate synthase subunit gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1323083 D RGD:7240710 20180130 OMIM 12252200 DHDDS dehydrodolichyl diphosphate synthase subunit gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1323083 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ibb | ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:16199547|PMID:17576681|PMID:21295282|PMID:21295283|PMID:22110072|PMID:23590195|PMID:24033266|PMID:24078709|PMID:24664694|PMID:24664742|PMID:25066056|PMID:25255364|PMID:25541840|PMID:25741868|PMID:26261414|PMID:27343064|PMID:28130426|PMID:28492532|PMID:28542158|PMID:28559085|PMID:29100083|PMID:29276052|PMID:31047384|PMID:31440733|PMID:31456290|PMID:31780880|PMID:33798445|PMID:34034154|PMID:34182312|PMID:34275143|PMID:34382076|PMID:34906498|PMID:9536098 12252200 DHDDS dehydrodolichyl diphosphate synthase subunit gene DOID:10584 retinitis pigmentosa ISO RGD:1323083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:21295282|PMID:21295283|PMID:22110072|PMID:23590195|PMID:24033266|PMID:24078709|PMID:24664694|PMID:25066056|PMID:25255364|PMID:25541840|PMID:25741868|PMID:26261414|PMID:27343064|PMID:28130426|PMID:28492532|PMID:28542158|PMID:28559085|PMID:29276052|PMID:31456290 12252200 DHDDS dehydrodolichyl diphosphate synthase subunit gene DOID:1826 epilepsy ISO RGD:1323083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12252200 DHDDS dehydrodolichyl diphosphate synthase subunit gene DOID:630 genetic disease ISO RGD:1323083 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:29100083|PMID:9536098 12252219 TNFSF10 TNF superfamily member 10 gene DOID:0050685 small cell carcinoma ISO RGD:1344832 D RGD:9068941 20200609 RGD PMID:16313792|REF_RGD_ID:2312747 12252219 TNFSF10 TNF superfamily member 10 gene DOID:0080600 COVID-19 ISO RGD:1344832 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12252219 TNFSF10 TNF superfamily member 10 gene DOID:0080600 COVID-19 ISO RGD:1344832 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12252219 TNFSF10 TNF superfamily member 10 gene DOID:1062 Fanconi syndrome ISO RGD:1344832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 12252219 TNFSF10 TNF superfamily member 10 gene DOID:11612 polycystic ovary syndrome ISO RGD:628734 D RGD:9068941 20200609 RGD protein:increased expression:ovary follicle, granulosa cell PMID:17641850|REF_RGD_ID:2312746 12252219 TNFSF10 TNF superfamily member 10 gene DOID:1240 leukemia ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17204177 12252219 TNFSF10 TNF superfamily member 10 gene DOID:1793 pancreatic cancer ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11234897 12252219 TNFSF10 TNF superfamily member 10 gene DOID:2349 arteriosclerosis ISO RGD:1344832 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17000905|REF_RGD_ID:2312742 12252219 TNFSF10 TNF superfamily member 10 gene DOID:3068 glioblastoma ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21877938 12252219 TNFSF10 TNF superfamily member 10 gene DOID:3070 high grade glioma ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16820965|PMID:19229339 12252219 TNFSF10 TNF superfamily member 10 gene DOID:3910 lung adenocarcinoma ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24345465 12252219 TNFSF10 TNF superfamily member 10 gene DOID:4450 renal cell carcinoma ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20403343 12252219 TNFSF10 TNF superfamily member 10 gene DOID:630 genetic disease ISO RGD:1344832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252219 TNFSF10 TNF superfamily member 10 gene DOID:684 hepatocellular carcinoma ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17326159 12252219 TNFSF10 TNF superfamily member 10 gene DOID:769 neuroblastoma ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16820965 12252219 TNFSF10 TNF superfamily member 10 gene DOID:8398 osteoarthritis ISO RGD:628734 D RGD:9068941 20200609 RGD PMID:14872496|REF_RGD_ID:2290500 12252219 TNFSF10 TNF superfamily member 10 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21209944 12252219 TNFSF10 TNF superfamily member 10 gene DOID:9000998 Brain Injuries ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 12252219 TNFSF10 TNF superfamily member 10 gene DOID:9001488 Human Influenza ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12252219 TNFSF10 TNF superfamily member 10 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1344832 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:18287563|REF_RGD_ID:2312739 12252219 TNFSF10 TNF superfamily member 10 gene DOID:9002170 Experimental Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17767197|PMID:24345465 12252219 TNFSF10 TNF superfamily member 10 gene DOID:9002265 Kidney Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16985049 12252219 TNFSF10 TNF superfamily member 10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16368536|PMID:17636462|PMID:17718901|PMID:21209944 12252219 TNFSF10 TNF superfamily member 10 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21616060 12252219 TNFSF10 TNF superfamily member 10 gene DOID:9002928 Colonic Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15993848 12252219 TNFSF10 TNF superfamily member 10 gene DOID:9003204 Neovascularization, Pathologic ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19509267|PMID:21209944 12252219 TNFSF10 TNF superfamily member 10 gene DOID:9003281 Spontaneous Abortions ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12252219 TNFSF10 TNF superfamily member 10 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21252285 12252219 TNFSF10 TNF superfamily member 10 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1344832 D RGD:9068941 20200609 RGD PMID:19572802|REF_RGD_ID:2312737 12252219 TNFSF10 TNF superfamily member 10 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628734 D RGD:9068941 20200609 RGD PMID:18649770|REF_RGD_ID:2312738 12252219 TNFSF10 TNF superfamily member 10 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732827 D RGD:9068941 20200609 RGD PMID:12577054|REF_RGD_ID:2312744 12252219 TNFSF10 TNF superfamily member 10 gene DOID:9007188 Liver Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18980244 12252219 TNFSF10 TNF superfamily member 10 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20071162 12252219 TNFSF10 TNF superfamily member 10 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17273769 12252219 TNFSF10 TNF superfamily member 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18483385 12252219 TNFSF10 TNF superfamily member 10 gene DOID:9119 acute myeloid leukemia ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12780785 12252219 TNFSF10 TNF superfamily member 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1344832 D RGD:9068941 20200609 RGD PMID:18057577|REF_RGD_ID:2312740 12252219 TNFSF10 TNF superfamily member 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:732827 D RGD:9068941 20200609 RGD PMID:12882912|REF_RGD_ID:2312743 12252227 DEFB121 defensin beta 121 gene DOID:630 genetic disease ISO RGD:1344288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252234 OASL 2'-5'-oligoadenylate synthetase like gene DOID:630 genetic disease ISO RGD:1318443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252234 OASL 2'-5'-oligoadenylate synthetase like gene DOID:9001488 Human Influenza ISO RGD:1318443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12252250 CCN6 cellular communication network factor 6 gene DOID:0090004 progressive pseudorheumatoid arthropathy of childhood ISO RGD:1345324 D RGD:7240710 20180130 OMIM 12252250 CCN6 cellular communication network factor 6 gene DOID:0090004 progressive pseudorheumatoid arthropathy of childhood ISO RGD:1345324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive pseudorheumatoid dysplasia PMID:10471507|PMID:16152649|PMID:21528827|PMID:21993478|PMID:22791401|PMID:22987568|PMID:23270760|PMID:23424195|PMID:25738435|PMID:25741868|PMID:25794430|PMID:25988854|PMID:27291587|PMID:27436824|PMID:28210640|PMID:28492532|PMID:29092958|PMID:29258992|PMID:30408610|PMID:32382396|PMID:34008892 12252250 CCN6 cellular communication network factor 6 gene DOID:381 arthropathy ISO RGD:1345324 D RGD:9068941 20200609 RGD PPAC, OMIM:208230 PMID:10471507|REF_RGD_ID:1599850 12252250 CCN6 cellular communication network factor 6 gene DOID:4680 breast metaplastic carcinoma ISO RGD:1622848 D RGD:9068941 20220825 MouseDO 12252250 CCN6 cellular communication network factor 6 gene DOID:630 genetic disease ISO RGD:1345324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22791401|PMID:22987568|PMID:23270760|PMID:23424195|PMID:25741868|PMID:25988854|PMID:27436824 12252309 CUBN cubilin gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:68502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12252309 CUBN cubilin gene DOID:13382 megaloblastic anemia ISO RGD:68502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Megaloblastic anemia | ClinVar Annotator: match by term: Megaloblastic anemia due to inborn errors of metabolism PMID:10080186|PMID:10887099|PMID:15024727|PMID:15963748|PMID:16199547|PMID:17576681|PMID:17668238|PMID:22277662|PMID:22495309|PMID:22929189|PMID:24033266|PMID:24156255|PMID:25349199|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27197912|PMID:28492532|PMID:29801666|PMID:31497480|PMID:31613795|PMID:33226606|PMID:33532864|PMID:34979989|PMID:9536098 12252309 CUBN cubilin gene DOID:1909 melanoma ISO RGD:68502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12252309 CUBN cubilin gene DOID:630 genetic disease ISO RGD:68502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12252309 CUBN cubilin gene DOID:670 amphetamine abuse ISO RGD:68502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12252309 CUBN cubilin gene DOID:9002165 Diabetic Nephropathies ISO RGD:68355 D RGD:9068941 20200609 RGD PMID:17037740|REF_RGD_ID:1599655 12252309 CUBN cubilin gene DOID:9005529 Chronic Benign Proteinuria ISO RGD:68502 D RGD:7240710 20200819 OMIM 12252309 CUBN cubilin gene DOID:9005529 Chronic Benign Proteinuria ISO RGD:68502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Proteinuria, chronic benign PMID:10080186|PMID:15024727|PMID:16199547|PMID:17576681|PMID:17668238|PMID:22929189|PMID:24033266|PMID:25349199|PMID:25741868|PMID:28492532|PMID:29801666|PMID:31613795|PMID:33226606|PMID:33532864|PMID:34979989|PMID:9536098 12252309 CUBN cubilin gene DOID:9006481 Imerslund-Grasbeck Syndrome 1 IAGP D RGD:12801476 20210603 OMIA Intestinal cobalamin (vitamin B12) malabsorption, CUBN-related PMID:1848001|PMID:1999430|PMID:10493414|PMID:11023127|PMID:16035451|PMID:14722725|PMID:1941244|PMID:14576052|PMID:15845892|PMID:23613799|PMID:23535754|PMID:23746554|PMID:24164695|PMID:24433284|PMID:24467303|PMID:25131805|PMID:27387721|PMID:30591068|PMID:28390190|PMID:31758868|PMID:33022748 12252309 CUBN cubilin gene DOID:9006481 Imerslund-Grasbeck Syndrome 1 ISO RGD:68502 D RGD:7240710 20180130 OMIM 12252309 CUBN cubilin gene DOID:9006481 Imerslund-Grasbeck Syndrome 1 ISO RGD:68502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type PMID:10080186|PMID:10887099|PMID:15024727|PMID:15963748|PMID:16199547|PMID:17576681|PMID:17668238|PMID:21208123|PMID:22277662|PMID:22495309|PMID:22929189|PMID:24033266|PMID:24156255|PMID:25349199|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27197912|PMID:28492532|PMID:29801666|PMID:31497480|PMID:31613795|PMID:33226606|PMID:33532864|PMID:34979989|PMID:9536098 12252309 CUBN cubilin gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:68502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:10080186|PMID:10887099|PMID:15024727|PMID:15963748|PMID:16199547|PMID:17576681|PMID:17668238|PMID:22277662|PMID:22495309|PMID:22929189|PMID:24033266|PMID:24156255|PMID:25349199|PMID:25525159|PMID:25741868|PMID:26040326|PMID:26467025|PMID:27197912|PMID:28204945|PMID:28492532|PMID:29801666|PMID:31497480|PMID:31613795|PMID:33226606|PMID:33532864|PMID:34979989|PMID:9536098 12252380 TBC1D22A TBC1 domain family member 22A gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1602007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12252380 TBC1D22A TBC1 domain family member 22A gene DOID:1059 intellectual disability ISO RGD:1602007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12252380 TBC1D22A TBC1 domain family member 22A gene DOID:630 genetic disease ISO RGD:1602007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252398 CSNK1E casein kinase 1 epsilon gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:732829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12252398 CSNK1E casein kinase 1 epsilon gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:732829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 12252398 CSNK1E casein kinase 1 epsilon gene DOID:0090036 myoclonic dystonia 26 ISO RGD:732829 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12252398 CSNK1E casein kinase 1 epsilon gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:732829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12252398 CSNK1E casein kinase 1 epsilon gene DOID:10652 Alzheimer's disease ISO RGD:732829 D RGD:9068941 20200609 RGD protein:increased expression:CA1 field of hippocampus: PMID:10514399|REF_RGD_ID:10395229 12252398 CSNK1E casein kinase 1 epsilon gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12252398 CSNK1E casein kinase 1 epsilon gene DOID:3008 invasive ductal carcinoma ISO RGD:732829 D RGD:9068941 20200609 RGD DNA:mutation:CDS:multiple nonsynonymous mutations PMID:14871824|REF_RGD_ID:2306813 12252398 CSNK1E casein kinase 1 epsilon gene DOID:630 genetic disease ISO RGD:732829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252431 TM6SF1 transmembrane 6 superfamily member 1 gene DOID:13938 amenorrhea ISO RGD:1317482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12252431 TM6SF1 transmembrane 6 superfamily member 1 gene DOID:2717 Bloom syndrome ISO RGD:1317482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12252431 TM6SF1 transmembrane 6 superfamily member 1 gene DOID:630 genetic disease ISO RGD:1317482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252431 TM6SF1 transmembrane 6 superfamily member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12252431 TM6SF1 transmembrane 6 superfamily member 1 gene DOID:9256 colorectal cancer ISO RGD:1317482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12252448 AURKB aurora kinase B gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:731309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12252448 AURKB aurora kinase B gene DOID:0080600 COVID-19 ISO RGD:731309 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12252448 AURKB aurora kinase B gene DOID:12177 common variable immunodeficiency ISO RGD:731309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12252448 AURKB aurora kinase B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:731309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12252448 AURKB aurora kinase B gene DOID:2729 dyskeratosis congenita ISO RGD:731309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12252448 AURKB aurora kinase B gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:731309 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:endometrium PMID:16311121|REF_RGD_ID:2293878 12252448 AURKB aurora kinase B gene DOID:2986 IgA glomerulonephritis ISO RGD:731309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 12252448 AURKB aurora kinase B gene DOID:3012 Li-Fraumeni syndrome ISO RGD:731309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12252448 AURKB aurora kinase B gene DOID:630 genetic disease ISO RGD:731309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252448 AURKB aurora kinase B gene DOID:684 hepatocellular carcinoma ISO RGD:731309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12252448 AURKB aurora kinase B gene DOID:8634 prostate carcinoma in situ ISO RGD:731309 D RGD:9068941 20200609 RGD PMID:16707419|REF_RGD_ID:2293877 12252448 AURKB aurora kinase B gene DOID:9000217 Stomach Neoplasms ISO RGD:731309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15993841 12252448 AURKB aurora kinase B gene DOID:9002304 Prostatic Neoplasms ISO RGD:731309 D RGD:9068941 20200609 RGD PMID:16707419|REF_RGD_ID:2293877 12252448 AURKB aurora kinase B gene DOID:9002304 Prostatic Neoplasms ISO RGD:731310 D RGD:9068941 20200609 RGD PMID:16707419|REF_RGD_ID:2293877 12252448 AURKB aurora kinase B gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:731309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 12252496 PLEKHH2 pleckstrin homology, MyTH4 and FERM domain containing H2 gene DOID:3883 Lynch syndrome ISO RGD:1351016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12252496 PLEKHH2 pleckstrin homology, MyTH4 and FERM domain containing H2 gene DOID:630 genetic disease ISO RGD:1351016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252540 DCAF12 DDB1 and CUL4 associated factor 12 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1346609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12252540 DCAF12 DDB1 and CUL4 associated factor 12 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1346609 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12252540 DCAF12 DDB1 and CUL4 associated factor 12 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1346609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12252540 DCAF12 DDB1 and CUL4 associated factor 12 gene DOID:630 genetic disease ISO RGD:1346609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252540 DCAF12 DDB1 and CUL4 associated factor 12 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1346609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12252540 DCAF12 DDB1 and CUL4 associated factor 12 gene DOID:9870 galactosemia ISO RGD:1346609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12252592 CHMP4B charged multivesicular body protein 4B gene DOID:0110265 cataract 31 multiple types ISO RGD:1320409 D RGD:7240710 20180130 OMIM 12252592 CHMP4B charged multivesicular body protein 4B gene DOID:0110265 cataract 31 multiple types ISO RGD:1320409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 31 multiple types PMID:10682967|PMID:17701905|PMID:28492532 12252592 CHMP4B charged multivesicular body protein 4B gene DOID:2843 long QT syndrome ISO RGD:1320409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12252592 CHMP4B charged multivesicular body protein 4B gene DOID:630 genetic disease ISO RGD:1320409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252601 PRKRA protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0080855 Parkinsonism ISO RGD:1315476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18243799 12252601 PRKRA protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0090048 dystonia 16 ISO RGD:1315476 D RGD:7240710 20180130 OMIM 12252601 PRKRA protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0090048 dystonia 16 ISO RGD:1315476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia 16 PMID:18243799|PMID:18420150|PMID:24033266|PMID:24142417|PMID:25142429|PMID:25737287|PMID:25741868|PMID:26231208|PMID:26990861|PMID:28492532|PMID:29279192 12252601 PRKRA protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1315476 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:18948003|PMID:23975875|PMID:24395473|PMID:25589632|PMID:28492532|PMID:30557390 12252601 PRKRA protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0110511 autosomal recessive nonsyndromic deafness 59 ISO RGD:1315476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 59 12252601 PRKRA protein activator of interferon induced protein kinase EIF2AK2 gene DOID:1059 intellectual disability ISO RGD:1315476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12252601 PRKRA protein activator of interferon induced protein kinase EIF2AK2 gene DOID:543 dystonia ISO RGD:1315476 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:24033266|PMID:25741868|PMID:28492532 12252601 PRKRA protein activator of interferon induced protein kinase EIF2AK2 gene DOID:630 genetic disease ISO RGD:1315476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12252601 PRKRA protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9001502 Congenital Microtia ISO RGD:1315476 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:25554729 12252601 PRKRA protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9002500 Hearing Disorders ISO RGD:1315476 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:25554729 12252601 PRKRA protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9004538 Hearing Loss ISO RGD:1315476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:28492532 12252601 PRKRA protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1306707 D RGD:9068941 20200609 RGD PMID:21897745|REF_RGD_ID:7777145 12252601 PRKRA protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9005941 Rhinosinusitis severity ISO RGD:1315476 D RGD:9068941 20200609 RGD associated with Nasal Polyps PMID:22961479|REF_RGD_ID:7777146 12252601 PRKRA protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1315476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22194846 12252613 OR6N1 olfactory receptor family 6 subfamily N member 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1347518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12252613 OR6N1 olfactory receptor family 6 subfamily N member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1347518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12252613 OR6N1 olfactory receptor family 6 subfamily N member 1 gene DOID:630 genetic disease ISO RGD:1347518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252613 OR6N1 olfactory receptor family 6 subfamily N member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12252616 APMAP adipocyte plasma membrane associated protein gene DOID:630 genetic disease ISO RGD:1318897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252616 APMAP adipocyte plasma membrane associated protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12252629 CBX8 chromobox 8 gene DOID:3068 glioblastoma ISO RGD:1351003 D RGD:9068941 20200609 RGD mRNA:increased expression:astrocyte: PMID:24260522|REF_RGD_ID:9587354 12252629 CBX8 chromobox 8 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1351003 D RGD:9068941 20200609 RGD mRNA:increased expression:esophagus: PMID:25197352|REF_RGD_ID:9587436 12252629 CBX8 chromobox 8 gene DOID:630 genetic disease ISO RGD:1351003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252629 CBX8 chromobox 8 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1351003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 12252638 EHD3 EH domain containing 3 gene DOID:630 genetic disease ISO RGD:1346639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252638 EHD3 EH domain containing 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1346639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12252638 EHD3 EH domain containing 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1346639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12252648 NADK2 NAD kinase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1602423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252648 NADK2 NAD kinase 2, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12252668 DEFB116 defensin beta 116 gene DOID:630 genetic disease ISO RGD:1344787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252672 C6H16orf92 chromosome 6 C16orf92 homolog gene DOID:0060019 coronin-1A deficiency ISO RGD:2306470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12252672 C6H16orf92 chromosome 6 C16orf92 homolog gene DOID:0060041 autism spectrum disorder ISO RGD:2306470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12252672 C6H16orf92 chromosome 6 C16orf92 homolog gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:2306470 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12252672 C6H16orf92 chromosome 6 C16orf92 homolog gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:2306470 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12252672 C6H16orf92 chromosome 6 C16orf92 homolog gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:2306470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12252672 C6H16orf92 chromosome 6 C16orf92 homolog gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:2306470 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12252672 C6H16orf92 chromosome 6 C16orf92 homolog gene DOID:1227 neutropenia ISO RGD:2306470 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 12252672 C6H16orf92 chromosome 6 C16orf92 homolog gene DOID:12849 autistic disorder ISO RGD:2306470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12252672 C6H16orf92 chromosome 6 C16orf92 homolog gene DOID:1882 atrial heart septal defect ISO RGD:2306470 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12252672 C6H16orf92 chromosome 6 C16orf92 homolog gene DOID:5419 schizophrenia ISO RGD:2306470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12252672 C6H16orf92 chromosome 6 C16orf92 homolog gene DOID:630 genetic disease ISO RGD:2306470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252672 C6H16orf92 chromosome 6 C16orf92 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2306470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12252672 C6H16orf92 chromosome 6 C16orf92 homolog gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:2306470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12252672 C6H16orf92 chromosome 6 C16orf92 homolog gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:2306470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12252672 C6H16orf92 chromosome 6 C16orf92 homolog gene DOID:9007876 Cone-Rod Dystrophy 22 ISO RGD:2306470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 22 PMID:33077892 12252721 LOC102156380 ragulator complex protein LAMTOR5-like gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1312775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 12252721 LOC102156380 ragulator complex protein LAMTOR5-like gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1312775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12252721 LOC102156380 ragulator complex protein LAMTOR5-like gene DOID:10603 glucose intolerance ISO RGD:1312775 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29259128 12252721 LOC102156380 ragulator complex protein LAMTOR5-like gene DOID:12849 autistic disorder ISO RGD:1312775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12252721 LOC102156380 ragulator complex protein LAMTOR5-like gene DOID:630 genetic disease ISO RGD:1312775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252721 LOC102156380 ragulator complex protein LAMTOR5-like gene DOID:9008939 Breast Neoplasms ISO RGD:1312775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26229107 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0050473 Alstrom syndrome ISO RGD:737465 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30250467 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0060025 immunoglobulin alpha deficiency susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :rs231770,rs16840252,rs231775(human) PMID:19020530|REF_RGD_ID:11344917 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0060060 non-Hodgkin lymphoma susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:49G>A(human) PMID:15114591|REF_RGD_ID:11352244 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26258847 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0080162 lupus nephritis ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:15146424|REF_RGD_ID:7204726 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0080846 latent autoimmune diabetes in adults ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :49A>G (human) PMID:12021137|REF_RGD_ID:2301997 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0081120 Graves ophthalmopathy ISO RGD:737465 D RGD:9068941 20200609 RGD associated with Graves Disease; DNA:SNP:promoter:-318C>T (human) PMID:16893393|REF_RGD_ID:7421511 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0081120 Graves ophthalmopathy no_association ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:22663548|REF_RGD_ID:7421521 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0081120 Graves ophthalmopathy severity ISO RGD:737465 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19734241|REF_RGD_ID:7421523 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:737465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0081267 graft-versus-host disease ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14642129 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0081267 graft-versus-host disease treatment ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:7515723|REF_RGD_ID:11344912 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0081267 graft-versus-host disease treatment ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:7515723|REF_RGD_ID:11344912 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:737465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0110751 type 1 diabetes mellitus 12 ISO RGD:737465 D RGD:7240710 20180130 OMIM 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0110751 type 1 diabetes mellitus 12 ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 12 PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:10325 silicosis ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:16831302|REF_RGD_ID:4891515 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:10608 celiac disease ISO RGD:737465 D RGD:7240710 20230505 OMIM 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:10608 celiac disease ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Celiac disease, susceptibility to, 3 | ClinVar Annotator: match by term: GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 3 PMID:10189842|PMID:10475192|PMID:11098935|PMID:11158025|PMID:12724780|PMID:15138458|PMID:15199380|PMID:15301861|PMID:15688186|PMID:24033266|PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614|PMID:8817351|PMID:9259273|PMID:9398726 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:10608 celiac disease susceptibility ISO RGD:737465 D RGD:9068941 20230506 RGD DNA:SNPs,haplotype: :rs231770,rs231775(human) PMID:19020530|REF_RGD_ID:11344917 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:11168 anogenital venereal wart ISO RGD:737465 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:11335 sarcoidosis ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:polymorphism:exon (human) PMID:14620161|REF_RGD_ID:4891520 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12132 granulomatosis with polyangiitis ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter,exon::-318C>T, (AT)repeats (human) PMID:12022356|REF_RGD_ID:7204724 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12236 primary biliary cholangitis disease_progression ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs: :rs231775, rs3087243, rs231725 (human) PMID:21594562|REF_RGD_ID:14398743 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12236 primary biliary cholangitis no_association ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:CDS:49A>G(human) PMID:17482523|REF_RGD_ID:14398725 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:CDS:60G>A(rs3087243)(human) PMID:16584111|REF_RGD_ID:14398744 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD autoimmune biliary cirrhosis; DNA:SNP:CDS:49A>G, significant association with G allele (p<0.0002) PMID:10782900|REF_RGD_ID:2301998 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12306 vitiligo ISO RGD:737465 D RGD:9068941 20200609 RGD associated with Autoimmune Diseases;DNA:polymorphisms: : PMID:15649153|REF_RGD_ID:7411687 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12306 vitiligo no_association ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs:multiple: PMID:18200060|REF_RGD_ID:7411697 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12306 vitiligo susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:3'UTR:rs3087243(human) PMID:21794098|REF_RGD_ID:7411696 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12306 vitiligo susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:exon:+49A>G rs231775)(human) PMID:19129082|REF_RGD_ID:7411699 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12361 Graves' disease ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19731979|PMID:21841780|PMID:23104008 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12361 Graves' disease ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:10369864|REF_RGD_ID:1300388 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12361 Graves' disease ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-318C>T (human) PMID:9672157|REF_RGD_ID:2302001 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12361 Graves' disease no_association ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-318C>T (human) PMID:9861324|REF_RGD_ID:2302000 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12361 Graves' disease susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :-318C>T(rs11571302)(human) PMID:14986169|REF_RGD_ID:7421515 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12361 Graves' disease susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :rs231779(human) PMID:20352109|REF_RGD_ID:7421517 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12361 Graves' disease susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs: :49G>A (rs231775),rs3087243,(AT)n-3'UTR(human) PMID:15785242|REF_RGD_ID:7421507 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12361 Graves' disease susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs:exon,intron:49A>G (rs231775),1822C>T(human) PMID:12780750|REF_RGD_ID:7421505 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12361 Graves' disease susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:49G>A(human) PMID:10404810|REF_RGD_ID:11352245 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12365 malaria disease_progression ISO RGD:737465 D RGD:9068941 20200807 RGD PMID:28892065|REF_RGD_ID:38455986 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12365 malaria treatment ISO RGD:737466 D RGD:9068941 20200807 RGD PMID:28892065|REF_RGD_ID:38455986 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12549 hepatitis A disease_progression ISO RGD:737465 D RGD:9068941 20201127 RGD PMID:26347518|REF_RGD_ID:40818419 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12894 Sjogren's syndrome ISO RGD:737465 D RGD:9068941 20200609 RGD mRNA:increased expression:salivary gland: PMID:12528117|REF_RGD_ID:7421519 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12894 Sjogren's syndrome susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :+49A/G (rs231775),(rs3087243)(human) PMID:16869018|REF_RGD_ID:7421506 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:13241 Behcet's disease ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs: :1661A>G,49C>A(human) PMID:19563524|REF_RGD_ID:7411682 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:1394 urinary schistosomiasis susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs:multiple:Gabonese(human) PMID:22288822|REF_RGD_ID:7204674 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:14557 primary pulmonary hypertension ISO RGD:737465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:1612 breast cancer ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SPNs:multiple: PMID:17825114|REF_RGD_ID:7421502 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:1612 breast cancer ISO RGD:737465 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:20482250|REF_RGD_ID:7411684 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:1749 squamous cell carcinoma susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :rs3087243(human) PMID:19622768|REF_RGD_ID:7411686 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:1909 melanoma ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21802280 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:1909 melanoma treatment ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs: :-11577G>A,rs3087243(human) PMID:23641913|REF_RGD_ID:7411681 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2043 hepatitis B disease_progression ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs: :-1722T>C(rs733618), 49A>G(rs231775)6230G>A(rs3087243)(human) PMID:15452244|REF_RGD_ID:14398731 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2048 autoimmune hepatitis susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs:exons:49A>G (rs231775), CT60 C > T(rs3087243)(human) PMID:30320190|REF_RGD_ID:14398726 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2377 multiple sclerosis ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:10082437|REF_RGD_ID:1358538 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2377 multiple sclerosis ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs: :rs3087243,rs11571302(human) PMID:19740340|REF_RGD_ID:7411672 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2377 multiple sclerosis no_association ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:CDS:49A>G (human) PMID:17942509|REF_RGD_ID:2301975 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2513 basal cell carcinoma susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :rs3087243(human) PMID:19622768|REF_RGD_ID:7411686 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2773 contact dermatitis ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:11348467|REF_RGD_ID:7421503 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28807506 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:16708626|PMID:18699801|REF_RGD_ID:4891510|REF_RGD_ID:4891516 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :rs3087243 (human) PMID:19895365|REF_RGD_ID:4891526 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:15316504|REF_RGD_ID:4891519 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, exon:-318C>T 49A>G (human) PMID:17469155|REF_RGD_ID:4891527 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:12956753|PMID:16677453|PMID:17237396|REF_RGD_ID:4891514|REF_RGD_ID:4891517|REF_RGD_ID:4891521 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma no_association ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:-1147C>T, -318C>T, 49A>G (human) PMID:16926542|REF_RGD_ID:4891528 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma severity ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-318C>T (human) PMID:12114354|REF_RGD_ID:4891522 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma severity ISO RGD:737465 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15871446|REF_RGD_ID:4891529 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma treatment ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:11726402|REF_RGD_ID:11344922 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:21129004|REF_RGD_ID:4891499 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :-318C>T (rs5742909) (human) PMID:20732370|REF_RGD_ID:4891504 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:321 tropical spastic paraparesis ISO RGD:737465 D RGD:9068941 20200831 RGD mRNA:decreased expression: T cell PMID:20945034|REF_RGD_ID:38549361 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:3310 atopic dermatitis ISO RGD:737465 D RGD:9068941 20200609 RGD mRNA:increased expression:blood: PMID:22357516|REF_RGD_ID:7411700 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:3310 atopic dermatitis susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP,haplotype:exon,3'UTR:rs3087243,rs231775 (human) PMID:16445777|REF_RGD_ID:7411698 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:4450 renal cell carcinoma ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs:exons:rs3087243, rs231775 (human) PMID:17678726|REF_RGD_ID:7204723 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:4481 allergic rhinitis treatment ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:10436391|REF_RGD_ID:11344920 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:4483 rhinitis ISO RGD:737465 D RGD:9068941 20200609 RGD protein:increased expression:T cell PMID:17625281|REF_RGD_ID:4891512 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:10712436|REF_RGD_ID:6902936 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:10712436|REF_RGD_ID:6902936 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:8206086|REF_RGD_ID:11352257 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:557 kidney disease susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD associated with Purpura, Schoenlein-Henoch;DNA:polymorphism:exon:49A>G(human) PMID:22700162|REF_RGD_ID:11344910 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:574 peripheral nervous system disease ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21228734 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:5773 oral submucous fibrosis ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:5844 myocardial infarction ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:CDS:49A>G (human) PMID:17652883|REF_RGD_ID:2301976 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:612 primary immunodeficiency disease ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25329329|PMID:25741868|PMID:28492532|PMID:30250467 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:630 genetic disease ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25213377|PMID:25329329|PMID:27102614|PMID:27908448|PMID:28492532|PMID:28960754|PMID:29200144|PMID:29330115|PMID:29729943|PMID:30443250|PMID:31993940|PMID:32499327 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:684 hepatocellular carcinoma ISO RGD:737465 D RGD:9068941 20200609 RGD protein:increased expression:CD4+ and CD8+ T cells: PMID:28648905|REF_RGD_ID:14398741 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs: :rs231775,rs231725(human) PMID:23432218|REF_RGD_ID:14398742 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:7148 rheumatoid arthritis ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:718 autoimmune hemolytic anemia susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:49G>A(p.T17A)(human) PMID:12555221|REF_RGD_ID:11352242 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:7188 autoimmune thyroiditis ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hashimoto thyroiditis PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:7188 autoimmune thyroiditis susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :-318C>T(rs11571302)(human) PMID:14986169|REF_RGD_ID:7421515 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:7442 monoclonal gammopathy of uncertain significance susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:microsatellite polymorphism:exon: : PMID:11167807|REF_RGD_ID:11352247 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:783 end stage renal disease ISO RGD:737465 D RGD:9068941 20200609 RGD associated with Wegener Granulomatosis;DNA:polymorphisms:promoter,exon::-318C>T, (AT)repeats (human) PMID:15708894|REF_RGD_ID:7204725 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:820 myocarditis ISO RGD:61975 D RGD:9068941 20200609 RGD PMID:16198253|REF_RGD_ID:7204512 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:850 lung disease ISO RGD:737466 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:20385880|REF_RGD_ID:4891507 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:8893 psoriasis treatment ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:10974034|REF_RGD_ID:7411683 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:737466 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:10611340|REF_RGD_ID:4891523 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:49A>G (human) PMID:12114354|REF_RGD_ID:4891522 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:18049334|REF_RGD_ID:7204722 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:737466 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:15701862|REF_RGD_ID:4891518 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9001285 Alcoholic Liver Diseases susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP::-318 T>C(rs5742909)(human) PMID:15208156|REF_RGD_ID:14398728 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:737465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737465 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:plasma: PMID:18026823|REF_RGD_ID:2312302 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:15914560|REF_RGD_ID:11352246 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:737465 D RGD:9068941 20200609 RGD protein:increased expression:T cell PMID:16094420|REF_RGD_ID:11344923 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:9223321|REF_RGD_ID:4891524 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9002457 Experimental Arthritis ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:7543497|REF_RGD_ID:7204519 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:61975 D RGD:9068941 20200609 RGD PMID:22354915|REF_RGD_ID:7204500 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9002720 Splenomegaly treatment ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:10676886|REF_RGD_ID:14398737 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:9379015|REF_RGD_ID:6902906 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9002805 Enterocolitis treatment ISO RGD:737465 D RGD:9068941 20200609 RGD associated with cancers; PMID:16710025|REF_RGD_ID:14398729 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs:exons:rs3087243, rs231775 Caucasian(human) PMID:19815671|REF_RGD_ID:7204687 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP,haplotype:exon,promoter:49A>G,-318 T>C(human) PMID:12696006|REF_RGD_ID:14398739 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:24041689|REF_RGD_ID:7411680 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004150 Lymphadenopathy treatment ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:10676886|REF_RGD_ID:14398737 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004236 Autoimmune Hypothyroidism ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPOTHYROIDISM, AUTOIMMUNE PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004283 Transplant Rejection ISO RGD:61975 D RGD:9068941 20200609 RGD PMID:18074399|REF_RGD_ID:7204518 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004283 Transplant Rejection ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:14551031|REF_RGD_ID:7204516 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004283 Transplant Rejection ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :rs733618, chinese(human) PMID:22418270|REF_RGD_ID:7204671 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004283 Transplant Rejection ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:12096784|REF_RGD_ID:7204515 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004283 Transplant Rejection susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :rs231775, korean(human) PMID:20940051|REF_RGD_ID:7204678 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9005167 Cryptogenic Cirrhosis susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :-318C>T(human) PMID:18049163|REF_RGD_ID:14398738 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9005372 Inflammation ISO RGD:737465 D RGD:9068941 20200609 RGD associated with Silicosis;protein:increased expression:T cell PMID:21072213|REF_RGD_ID:4891500 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:11481266|REF_RGD_ID:7421509 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:14528321|REF_RGD_ID:7204514 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:9407517|REF_RGD_ID:7204727 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:22189844|REF_RGD_ID:7204675 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9007355 Hashimoto Disease ISO RGD:737465 D RGD:7240710 20180130 OMIM 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9007355 Hashimoto Disease ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hashimoto Disease PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9007355 Hashimoto Disease susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:cds:+49A/G (rs231775)(human) PMID:18752454|REF_RGD_ID:7421513 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:737465 D RGD:7240710 20180130 OMIM 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V | ClinVar Annotator: match by term: CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION | ClinVar Annotator: match by term: IMMUNE DYSREGULATION WITH AUTOIMMUNITY, IMMUNODEFICIENCY, AND LYMPHOPROLIFERATION PMID:10189842|PMID:10475192|PMID:11098935|PMID:11158025|PMID:11343122|PMID:12353035|PMID:12577056|PMID:12724780|PMID:15138458|PMID:15199380|PMID:15301861|PMID:15688186|PMID:16199547|PMID:17576681|PMID:19380800|PMID:24033266|PMID:25213377|PMID:25329329|PMID:25741868|PMID:25814141|PMID:26478010|PMID:26644313|PMID:26884280|PMID:27102614|PMID:27418640|PMID:27577878|PMID:27908448|PMID:28492532|PMID:28960754|PMID:28983403|PMID:29077208|PMID:29200144|PMID:29225858|PMID:29305966|PMID:29330115|PMID:29375547|PMID:29729943|PMID:29796761|PMID:30048690|PMID:30250467|PMID:30326257|PMID:30377434|PMID:30443250|PMID:30940614|PMID:31396201|PMID:31993940|PMID:32499327|PMID:32499645|PMID:32531373|PMID:34111452|PMID:8817351|PMID:9259273|PMID:9398726|PMID:9536098 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9007651 Chronic Bronchitis ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:19386687|REF_RGD_ID:4891509 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :-318C>T(human) PMID:16489681|REF_RGD_ID:14398727 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:737465 D RGD:7240710 20180130 OMIM 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:10189842|PMID:10475192|PMID:11098935|PMID:11158025|PMID:15138458|PMID:15301861|PMID:15688186|PMID:24033266|PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614|PMID:8817351|PMID:9259273|PMID:9398726 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9074 systemic lupus erythematosus disease_progression ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:19966213|REF_RGD_ID:7204684 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9119 acute myeloid leukemia ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:3'UTR:rs3087243(human) PMID:19092854|REF_RGD_ID:11344911 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9383 iridocyclitis ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:polymorphism: :-318C>T,(AT)16(human) PMID:17287608|REF_RGD_ID:7421512 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9538 multiple myeloma susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:microsatellite polymorphism:exon: : PMID:11167807|REF_RGD_ID:11352247 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:9259273|REF_RGD_ID:1300385 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:CDS, 3' utr:49G>A (rs231775), rs3087243 (human) PMID:18443194|REF_RGD_ID:2301974 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:CDS:49A>G, G allele significantly associated with T1DM in Italian and Spanish populations (p=0.004 for individual populations, p=0.0001 for combined I+S) PMID:8817351|REF_RGD_ID:2301958 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1661A>G (human) PMID:16671945|REF_RGD_ID:2301995 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:986 alopecia areata ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20596022 12252727 CTLA4 cytotoxic T-lymphocyte associated protein 4 gene DOID:986 alopecia areata susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:3'UTR:rs3087243(human) PMID:23567921|REF_RGD_ID:7411701 12252735 RANBP2 RAN binding protein 2 gene DOID:0050591 tooth agenesis ISO RGD:1351414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Oligodontia PMID:23210707 12252735 RANBP2 RAN binding protein 2 gene DOID:0050905 inflammatory myofibroblastic tumor ISO RGD:1351414 D RGD:9068941 20200609 RGD DNA:translocations:intron: (human) PMID:12661011|REF_RGD_ID:9999211 12252735 RANBP2 RAN binding protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1351414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:24807792|PMID:25255310 12252735 RANBP2 RAN binding protein 2 gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:1351414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:10431241|PMID:18231121|PMID:20236127|PMID:20979233|PMID:25741868|PMID:28492532 12252735 RANBP2 RAN binding protein 2 gene DOID:0080855 Parkinsonism severity ISO RGD:1558482 D RGD:9068941 20200609 RGD PMID:22821000|REF_RGD_ID:9835348 12252735 RANBP2 RAN binding protein 2 gene DOID:0111201 distal hereditary motor neuronopathy type 7A ISO RGD:1351414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:28492532 12252735 RANBP2 RAN binding protein 2 gene DOID:0111654 ectodermal dysplasia 11B ISO RGD:1351414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive PMID:10431241|PMID:11035039|PMID:15013427|PMID:16435307|PMID:18231121|PMID:20979233|PMID:23401279|PMID:25741868|PMID:27657131|PMID:28492532 12252735 RANBP2 RAN binding protein 2 gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1351414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant PMID:10431241|PMID:10431242|PMID:11035039|PMID:15013427|PMID:16029325|PMID:16199547|PMID:16435307|PMID:17125505|PMID:17576681|PMID:18065779|PMID:18231121|PMID:18561327|PMID:18704500|PMID:18854857|PMID:19438931|PMID:20236127|PMID:20979233|PMID:21771270|PMID:21876339|PMID:22032522|PMID:23401279|PMID:23991204|PMID:24033266|PMID:24641098|PMID:24884697|PMID:25741868|PMID:26077850|PMID:26336973|PMID:27305980|PMID:27657131|PMID:28265457|PMID:28492532|PMID:28981473|PMID:32274043|PMID:32325225|PMID:33205897|PMID:9536098 12252735 RANBP2 RAN binding protein 2 gene DOID:0111665 ectodermal dysplasia 10B ISO RGD:1351414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive PMID:10431241|PMID:11279189|PMID:15373768|PMID:16435307|PMID:18065779|PMID:18231121|PMID:18561327|PMID:18704500|PMID:18816645|PMID:20236127|PMID:20979233|PMID:22032522|PMID:24033266|PMID:25741868|PMID:28492532 12252735 RANBP2 RAN binding protein 2 gene DOID:12336 male infertility ISO RGD:1558482 D RGD:9068941 20200609 RGD PMID:21310149|REF_RGD_ID:9835350 12252735 RANBP2 RAN binding protein 2 gene DOID:13714 anodontia ISO RGD:1351414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Non-syndromic oligodontia PMID:10431241|PMID:17125505|PMID:18065779|PMID:18561327|PMID:18704500|PMID:24884697|PMID:25741868|PMID:26336973|PMID:27305980|PMID:28492532 12252735 RANBP2 RAN binding protein 2 gene DOID:14793 hypohidrotic ectodermal dysplasia ISO RGD:1351414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia PMID:18065779|PMID:18561327|PMID:18704500|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28808699 12252735 RANBP2 RAN binding protein 2 gene DOID:2121 ectodermal dysplasia ISO RGD:1351414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant PMID:16435307|PMID:18065779|PMID:18561327|PMID:18704500|PMID:18816645|PMID:23210707|PMID:24033266|PMID:25741868|PMID:28492532 12252735 RANBP2 RAN binding protein 2 gene DOID:4194 glucose metabolism disease ISO RGD:1558482 D RGD:9068941 20200609 RGD PMID:17069463|REF_RGD_ID:9835347 12252735 RANBP2 RAN binding protein 2 gene DOID:630 genetic disease ISO RGD:1351414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23401279|PMID:25741868|PMID:28166811|PMID:28492532 12252735 RANBP2 RAN binding protein 2 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1351414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ENCEPHALOPATHY, ACUTE NECROTIZING, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:17576681|PMID:19118815|PMID:19811512|PMID:20473521|PMID:21205700|PMID:21945312|PMID:25128471|PMID:25522933|PMID:25640679|PMID:25741868|PMID:26110162|PMID:26923722|PMID:2759111|PMID:27591117|PMID:28166811|PMID:28336122|PMID:28492532|PMID:29593631|PMID:9536098 12252735 RANBP2 RAN binding protein 2 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 susceptibility ISO RGD:1351414 D RGD:7240710 20190502 OMIM 12252735 RANBP2 RAN binding protein 2 gene DOID:9004794 Granuloma, Plasma Cell ISO RGD:1351414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21030459 12252735 RANBP2 RAN binding protein 2 gene DOID:9005884 Potassium Aggravated Myotonia ISO RGD:1351414 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Potassium-aggravated myotonia PMID:25741868 12252735 RANBP2 RAN binding protein 2 gene DOID:9538 multiple myeloma ISO RGD:1351414 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow, plasma cell (human) PMID:19171422|REF_RGD_ID:9835349 12252780 SLC30A6 solute carrier family 30 member 6 gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1319489 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 PMID:28492532 12252780 SLC30A6 solute carrier family 30 member 6 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1319489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914|PMID:25741868|PMID:28492532 12252780 SLC30A6 solute carrier family 30 member 6 gene DOID:10652 Alzheimer's disease ISO RGD:1319489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16580781 12252780 SLC30A6 solute carrier family 30 member 6 gene DOID:607 paraplegia ISO RGD:1319489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:32581362 12252780 SLC30A6 solute carrier family 30 member 6 gene DOID:630 genetic disease ISO RGD:1319489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252780 SLC30A6 solute carrier family 30 member 6 gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:1319489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis PMID:28492532 12252798 B4GAT1 beta-1,4-glucuronyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1319932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12252798 B4GAT1 beta-1,4-glucuronyltransferase 1 gene DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ISO RGD:1615764 D RGD:9068941 20220825 MouseDO OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 12252798 B4GAT1 beta-1,4-glucuronyltransferase 1 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1319932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 12252798 B4GAT1 beta-1,4-glucuronyltransferase 1 gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1319932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:23877401|PMID:25558065 12252798 B4GAT1 beta-1,4-glucuronyltransferase 1 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1319932 D RGD:7240710 20190315 OMIM 12252798 B4GAT1 beta-1,4-glucuronyltransferase 1 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1319932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:17576681|PMID:22219654|PMID:23877401|PMID:25558065|PMID:25741868|PMID:28492532|PMID:9536098 12252798 B4GAT1 beta-1,4-glucuronyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:1319932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12252798 B4GAT1 beta-1,4-glucuronyltransferase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12252798 B4GAT1 beta-1,4-glucuronyltransferase 1 gene DOID:2746 glycogen storage disease V ISO RGD:1319932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12252798 B4GAT1 beta-1,4-glucuronyltransferase 1 gene DOID:630 genetic disease ISO RGD:1319932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12252798 B4GAT1 beta-1,4-glucuronyltransferase 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1319932 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12252798 B4GAT1 beta-1,4-glucuronyltransferase 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12252798 B4GAT1 beta-1,4-glucuronyltransferase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1319932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12252804 GFM1 G elongation factor mitochondrial 1 gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1604558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:21119709|PMID:25741868|PMID:28216230|PMID:28492532|PMID:31683770 12252804 GFM1 G elongation factor mitochondrial 1 gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1604558 D RGD:7240710 20180130 OMIM 12252804 GFM1 G elongation factor mitochondrial 1 gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1604558 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 PMID:15537906|PMID:16199547|PMID:16632485|PMID:17160893|PMID:17576681|PMID:20843780|PMID:21119709|PMID:21364917|PMID:21986555|PMID:22277967|PMID:24033266|PMID:25741868|PMID:25852744|PMID:28216230|PMID:28492532|PMID:31680380|PMID:32313153|PMID:32746448|PMID:32776492|PMID:9536098 12252804 GFM1 G elongation factor mitochondrial 1 gene DOID:630 genetic disease ISO RGD:1604558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12252825 SRSF9 serine and arginine rich splicing factor 9 gene DOID:11054 urinary bladder cancer ISO RGD:1319864 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder epithelium (human) PMID:22178073|REF_RGD_ID:11040443 12252825 SRSF9 serine and arginine rich splicing factor 9 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1319864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12252825 SRSF9 serine and arginine rich splicing factor 9 gene DOID:630 genetic disease ISO RGD:1319864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252825 SRSF9 serine and arginine rich splicing factor 9 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1319864 D RGD:9068941 20200609 RGD PMID:20616573|REF_RGD_ID:11040805 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:0060180 colitis ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15821759 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:0080821 exercise-induced bronchoconstriction ISO RGD:732775 D RGD:9068941 20200609 RGD PMID:10984370|REF_RGD_ID:4890423 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:10247 pleurisy ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:9109363|REF_RGD_ID:4890429 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:10459 common cold ISO RGD:732775 D RGD:9068941 20200609 RGD protein:increased expression:bronchus PMID:11865407|REF_RGD_ID:4890421 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:10762 portal hypertension ISO RGD:2096 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis, Experimental PMID:11832453|REF_RGD_ID:1626153 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:10763 hypertension ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:16331105|REF_RGD_ID:1626151 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:11396 pulmonary edema ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:8111595|REF_RGD_ID:4890432 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:11664 nephrosclerosis ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:1184 nephrotic syndrome ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:19194550|REF_RGD_ID:2317535 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:14319 pleuropneumonia ISO RGD:10147 D RGD:9068941 20200609 RGD PMID:12773506|REF_RGD_ID:4890419 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:1555 urticaria ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:1793 pancreatic cancer ISO RGD:732775 D RGD:9068941 20200609 RGD PMID:12481414|REF_RGD_ID:2317523 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:1793 pancreatic cancer ISO RGD:732775 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:12163367|REF_RGD_ID:2317524 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:1936 atherosclerosis ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16698924 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:2316 brain ischemia ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:20204486|REF_RGD_ID:2317525 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:2349 arteriosclerosis ISO RGD:732775 D RGD:9068941 20200609 RGD PMID:14702425|REF_RGD_ID:734559 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:2841 asthma ISO RGD:732775 D RGD:7240710 20230505 OMIM 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:2841 asthma no_association ISO RGD:732775 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter (human) PMID:12911785|PMID:20128419|REF_RGD_ID:4890407|REF_RGD_ID:5147465 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:2841 asthma severity ISO RGD:732775 D RGD:9068941 20200609 RGD DNA:repeat:promoter (human) PMID:16364163|REF_RGD_ID:4890415 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:2841 asthma treatment ISO RGD:732775 D RGD:9068941 20200609 RGD PMID:10369259|REF_RGD_ID:734557 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:732775 D RGD:9068941 20200609 RGD DNA:polymorphism, repeat:promoter, exon:g.760G>A (human) PMID:18174194|REF_RGD_ID:4890411 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:299 adenocarcinoma ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:3007 breast ductal carcinoma ISO RGD:732775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:3021 acute kidney failure ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:19194548|REF_RGD_ID:2317536 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:3525 middle cerebral artery infarction ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19309543 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:3627 aortic aneurysm ISO RGD:10147 D RGD:9068941 20200609 RGD PMID:17182931|REF_RGD_ID:1626150 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:3770 pulmonary fibrosis ISO RGD:732775 D RGD:9068941 20200609 RGD protein:altered localization:alveolar macrophage, nuclear membrane PMID:8621765|REF_RGD_ID:4890430 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:3910 lung adenocarcinoma ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:4450 renal cell carcinoma ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:4905 pancreatic carcinoma ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:4947 cholangiocarcinoma ISO RGD:732775 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:18507031|REF_RGD_ID:2317521 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:630 genetic disease ISO RGD:732775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:6432 pulmonary hypertension ISO RGD:14981588 D RGD:9068941 20200609 RGD PMID:31462075|REF_RGD_ID:14975304 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:6432 pulmonary hypertension ISO RGD:14981589 D RGD:9068941 20200609 RGD PMID:31462075|REF_RGD_ID:14975304 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:6432 pulmonary hypertension ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:14726295|PMID:8647941|REF_RGD_ID:4890418|REF_RGD_ID:734558 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:6432 pulmonary hypertension ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14726295 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:6432 pulmonary hypertension ISO RGD:732775 D RGD:9068941 20200609 RGD protein:increased expression:artery PMID:9445303|REF_RGD_ID:1626154 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:6432 pulmonary hypertension ISO RGD:735373 D RGD:9068941 20200609 RGD PMID:31462075|REF_RGD_ID:14975304 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:6432 pulmonary hypertension treatment ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:31462075|REF_RGD_ID:14975304 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:657 adenoma ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18927292 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:7148 rheumatoid arthritis ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:850 lung disease ISO RGD:10147 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:17118201|REF_RGD_ID:4890414 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:850 lung disease ISO RGD:10147 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury PMID:15894604|REF_RGD_ID:4890417 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:8552 chronic myeloid leukemia ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19503090|PMID:19823023 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:8719 in situ carcinoma ISO RGD:732775 D RGD:9068941 20200609 RGD PMID:16024599|REF_RGD_ID:2317522 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:9000076 Closed Fractures ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19544365 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:9000217 Stomach Neoplasms ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20061081 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:9000641 Pain ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:19580807|REF_RGD_ID:2317533 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:9000965 Neoplasm Metastasis ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20061081 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10147 D RGD:9068941 20200609 RGD PMID:20231413|REF_RGD_ID:4890435 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:9002211 Hyperalgesia ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12582831 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:9002304 Prostatic Neoplasms ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:9002589 Bone Fractures ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:19884440|REF_RGD_ID:2317529 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:9002762 Ovarian Neoplasms ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:9002906 Multiple Organ Failure ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15241586 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:9002928 Colonic Neoplasms ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14569062|PMID:18927292|PMID:30258081 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:9004009 Reperfusion Injury ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:19816089|REF_RGD_ID:2317531 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:9004009 Reperfusion Injury ISO RGD:2096 D RGD:9068941 20200609 RGD protein:increased expression:cerebral hemisphere PMID:14769366|REF_RGD_ID:1626152 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:9004009 Reperfusion Injury ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15266012 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:9004271 Colonic Polyps ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18927292 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20061081 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:9005236 Drug Eruptions ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:9005372 Inflammation ISO RGD:10147 D RGD:9068941 20200609 RGD PMID:1386887|REF_RGD_ID:4890433 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:9005372 Inflammation ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:1386887|REF_RGD_ID:4890433 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:9005930 Endotoxemia ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15328337 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:9007480 Hyperoxia ISO RGD:2096 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:12490039|REF_RGD_ID:4890420 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:20011686|REF_RGD_ID:2317527 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:732775 D RGD:9068941 20200609 RGD PMID:16677242|REF_RGD_ID:5147463 12252833 ALOX5 arachidonate 5-lipoxygenase gene DOID:9008604 Radiation Pneumonitis ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:1886988|REF_RGD_ID:4890434 12252849 TMEM70 transmembrane protein 70 gene DOID:0050700 cardiomyopathy ISO RGD:1603032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18953340 12252849 TMEM70 transmembrane protein 70 gene DOID:0050868 hepatocellular adenoma ISO RGD:1603032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27914986 12252849 TMEM70 transmembrane protein 70 gene DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ISO RGD:1603032 D RGD:7240710 20180130 OMIM 12252849 TMEM70 transmembrane protein 70 gene DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ISO RGD:1603032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | ClinVar Annotator: match by term: Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 PMID:16199547|PMID:17576681|PMID:1895334|PMID:18953340|PMID:20335238|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21147908|PMID:21815885|PMID:21945727|PMID:22433607|PMID:22986587|PMID:24033266|PMID:24485043|PMID:24740313|PMID:25326274|PMID:25741868|PMID:25825456|PMID:26467025|PMID:26550569|PMID:28492532|PMID:30950220|PMID:9536098 12252849 TMEM70 transmembrane protein 70 gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1603032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K PMID:15805163|PMID:20685671|PMID:21681106 12252849 TMEM70 transmembrane protein 70 gene DOID:0110185 Charcot-Marie-Tooth disease type 4A ISO RGD:1603032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A PMID:28492532 12252849 TMEM70 transmembrane protein 70 gene DOID:0111143 mitochondrial complex V (ATP synthase) deficiency ISO RGD:1603032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type PMID:18953340|PMID:20335238|PMID:20920610|PMID:21147908|PMID:24033266|PMID:24485043|PMID:25326274|PMID:25741868|PMID:28492532 12252849 TMEM70 transmembrane protein 70 gene DOID:630 genetic disease ISO RGD:1603032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18953340|PMID:21147908|PMID:24740313|PMID:25741868|PMID:28492532 12252849 TMEM70 transmembrane protein 70 gene DOID:684 hepatocellular carcinoma ISO RGD:1603032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27914986 12252849 TMEM70 transmembrane protein 70 gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1603032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18953340 12252856 NETO2 neuropilin and tolloid like 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1313264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12252856 NETO2 neuropilin and tolloid like 2 gene DOID:0080600 COVID-19 ISO RGD:1313264 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12252856 NETO2 neuropilin and tolloid like 2 gene DOID:0111041 glycogen storage disease IXb ISO RGD:1313264 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 12252856 NETO2 neuropilin and tolloid like 2 gene DOID:10283 prostate cancer ISO RGD:1313264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12252856 NETO2 neuropilin and tolloid like 2 gene DOID:630 genetic disease ISO RGD:1313264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252856 NETO2 neuropilin and tolloid like 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1313264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12252868 STRC stereocilin gene DOID:0070173 spermatogenic failure 7 ISO RGD:1344167 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MALE INFERTILITY, NONSYNDROMIC, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 7 PMID:21078986|PMID:22147502|PMID:24033266|PMID:25157971|PMID:25741868|PMID:26467025 12252868 STRC stereocilin gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1344167 D RGD:7240710 20180130 OMIM 12252868 STRC stereocilin gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1344167 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 16 PMID:11687802|PMID:18414213|PMID:21078986|PMID:21681106|PMID:22147502|PMID:24033266|PMID:24963352|PMID:25157971|PMID:25741868|PMID:26011646|PMID:26467025|PMID:26746617|PMID:31552524|PMID:32203226|PMID:35802133|PMID:36633841 12252868 STRC stereocilin gene DOID:0110547 autosomal dominant nonsyndromic deafness 16 ISO RGD:1344167 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 16 PMID:22147502|PMID:24033266|PMID:25741868 12252868 STRC stereocilin gene DOID:10003 sensorineural hearing loss ISO RGD:1344167 D RGD:9068941 20200609 RGD PMID:11687802|REF_RGD_ID:1599186 12252868 STRC stereocilin gene DOID:2717 Bloom syndrome ISO RGD:1344167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12252868 STRC stereocilin gene DOID:630 genetic disease ISO RGD:1344167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266 12252868 STRC stereocilin gene DOID:9002477 Sensorineural Deafness and Male Infertility ISO RGD:1344167 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness-infertility syndrome PMID:18414213|PMID:21078986|PMID:22147502|PMID:24033266|PMID:25157971|PMID:25741868|PMID:26467025 12252868 STRC stereocilin gene DOID:9004538 Hearing Loss ISO RGD:1344167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:30311386 12252868 STRC stereocilin gene DOID:9256 colorectal cancer ISO RGD:1344167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12252903 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:0060883 intestinal hypomagnesemia 1 ISO RGD:1353386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 12252903 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 ISO RGD:1353386 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Guam disease PMID:25741868|PMID:28492532 12252903 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 no_association ISO RGD:1353386 D RGD:9068941 20200609 RGD DNA:mutation:cds: p.T1482I (human) PMID:19405049|REF_RGD_ID:5685008 12252903 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 susceptibility ISO RGD:1353386 D RGD:7240710 20190502 OMIM 12252903 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:2717 Bloom syndrome ISO RGD:1353386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12252903 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:2914 immune system disease ISO RGD:1353386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30770447 12252903 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1353386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to PMID:16051700|PMID:19405049|PMID:25741868 12252903 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:5082 liver cirrhosis ISO RGD:1353386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25150141 12252903 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:630 genetic disease ISO RGD:1353386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252903 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:657 adenoma ISO RGD:1353386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17823441 12252903 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:9000276 Juvenile Amyotrophic Lateral Sclerosis ISO RGD:1353386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis PMID:16051700|PMID:19405049|PMID:25741868 12252903 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:9002315 Kidney Calculi ISO RGD:1353386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24291744 12252903 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:9004009 Reperfusion Injury ISO RGD:620053 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:hippocampus PMID:18395621|REF_RGD_ID:5684390 12252903 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:9004271 Colonic Polyps ISO RGD:1353386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17823441 12252903 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1353386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30710498 12252903 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:9005246 Paralysis ISO RGD:1353386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24291744 12252903 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:9006030 Infant Death ISO RGD:1353386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30770447 12252903 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1353386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17823441 12252903 TRPM7 transient receptor potential cation channel subfamily M member 7 gene DOID:9256 colorectal cancer ISO RGD:1353386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12252948 SLC26A9 solute carrier family 26 member 9 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1321344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12252948 SLC26A9 solute carrier family 26 member 9 gene DOID:12849 autistic disorder ISO RGD:1321344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12252948 SLC26A9 solute carrier family 26 member 9 gene DOID:1485 cystic fibrosis ISO RGD:1321344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22466613 12252948 SLC26A9 solute carrier family 26 member 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1321344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12252948 SLC26A9 solute carrier family 26 member 9 gene DOID:630 genetic disease ISO RGD:1321344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12252948 SLC26A9 solute carrier family 26 member 9 gene DOID:8437 intestinal obstruction ISO RGD:1321344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22466613 12252948 SLC26A9 solute carrier family 26 member 9 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1321344 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12252948 SLC26A9 solute carrier family 26 member 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12252986 B9D1 B9 domain containing 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1602004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868 12252986 B9D1 B9 domain containing 1 gene DOID:0050777 Joubert syndrome ISO RGD:1602004 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098 12252986 B9D1 B9 domain containing 1 gene DOID:0050778 Meckel syndrome ISO RGD:1602004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868 12252986 B9D1 B9 domain containing 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1602004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12252986 B9D1 B9 domain containing 1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1602004 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12252986 B9D1 B9 domain containing 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16007087|PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:27123465|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098 12252986 B9D1 B9 domain containing 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:24886560|PMID:26092869 12252986 B9D1 B9 domain containing 1 gene DOID:0110996 Joubert Syndrome 27 ISO RGD:1602004 D RGD:7240710 20190315 OMIM 12252986 B9D1 B9 domain containing 1 gene DOID:0110996 Joubert Syndrome 27 ISO RGD:1602004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 27 PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098 12252986 B9D1 B9 domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1602004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12252986 B9D1 B9 domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1602004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12252986 B9D1 B9 domain containing 1 gene DOID:630 genetic disease ISO RGD:1602004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12252986 B9D1 B9 domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12252986 B9D1 B9 domain containing 1 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1602004 D RGD:7240710 20180130 OMIM 12252986 B9D1 B9 domain containing 1 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1602004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627|PMID:25741868|PMID:28492532 12252986 B9D1 B9 domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12253003 NFIA nuclear factor I A gene DOID:0060409 NFIA-related disorder ISO RGD:69144 D RGD:7240710 20190315 OMIM 12253003 NFIA nuclear factor I A gene DOID:0060409 NFIA-related disorder ISO RGD:69144 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Brain malformations with or without urinary tract defects | ClinVar Annotator: match by term: Chromosome 1p32-p31 deletion syndrome PMID:24462883|PMID:25714559|PMID:25741868|PMID:27081522|PMID:28492532|PMID:31730271 12253003 NFIA nuclear factor I A gene DOID:1059 intellectual disability ISO RGD:69144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12253003 NFIA nuclear factor I A gene DOID:630 genetic disease ISO RGD:69144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10518556|PMID:1618796|PMID:17530927|PMID:19058033|PMID:19763616|PMID:20673863|PMID:22301465|PMID:22542183|PMID:24098143|PMID:24267886|PMID:24462883|PMID:24657733|PMID:25741868|PMID:27081522|PMID:28492532 12253003 NFIA nuclear factor I A gene DOID:9003816 Macrocephaly ISO RGD:69144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly 12253003 NFIA nuclear factor I A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69144 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12253037 RNF212B ring finger protein 212B gene DOID:0060439 lysinuric protein intolerance ISO RGD:1347248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12253037 RNF212B ring finger protein 212B gene DOID:9000265 Specific Granule Deficiency ISO RGD:1347248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 12253037 RNF212B ring finger protein 212B gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1347248 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12253071 CYP4X1 cytochrome P450 family 4 subfamily X member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:731278 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12253071 CYP4X1 cytochrome P450 family 4 subfamily X member 1 gene DOID:630 genetic disease ISO RGD:731278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253091 QRFPR pyroglutamylated RFamide peptide receptor gene DOID:0080010 bone structure disease ISO RGD:1332510 D RGD:9068941 20220825 MouseDO 12253091 QRFPR pyroglutamylated RFamide peptide receptor gene DOID:630 genetic disease ISO RGD:1351393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253091 QRFPR pyroglutamylated RFamide peptide receptor gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1351393 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 12253091 QRFPR pyroglutamylated RFamide peptide receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12253101 SULT2B1 sulfotransferase family 2B member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318906 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12253101 SULT2B1 sulfotransferase family 2B member 1 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 ISO RGD:1318906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 PMID:28575648 12253101 SULT2B1 sulfotransferase family 2B member 1 gene DOID:0060710 autosomal recessive congenital ichthyosis 2 ISO RGD:1318906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 PMID:17496163|PMID:28575648 12253101 SULT2B1 sulfotransferase family 2B member 1 gene DOID:0080258 autosomal recessive congenital ichthyosis 14 ISO RGD:1318906 D RGD:7240710 20190315 OMIM 12253101 SULT2B1 sulfotransferase family 2B member 1 gene DOID:0080258 autosomal recessive congenital ichthyosis 14 ISO RGD:1318906 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 14 PMID:17496163|PMID:25741868|PMID:28492532|PMID:28575648 12253101 SULT2B1 sulfotransferase family 2B member 1 gene DOID:13580 cholestasis ISO RGD:1318906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27052460 12253101 SULT2B1 sulfotransferase family 2B member 1 gene DOID:630 genetic disease ISO RGD:1318906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12253101 SULT2B1 sulfotransferase family 2B member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 12253101 SULT2B1 sulfotransferase family 2B member 1 gene DOID:9005372 Inflammation ISO RGD:1318906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27052460 12253101 SULT2B1 sulfotransferase family 2B member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1318906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27052460 12253101 SULT2B1 sulfotransferase family 2B member 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1318906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25437045 12253101 SULT2B1 sulfotransferase family 2B member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29766219 12253111 LOC484461 zinc finger protein 234 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1344990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12253111 LOC484461 zinc finger protein 234 gene DOID:5419 schizophrenia ISO RGD:1344990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12253111 LOC484461 zinc finger protein 234 gene DOID:630 genetic disease ISO RGD:1344990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253123 DHX35 DEAH-box helicase 35 gene DOID:2234 focal epilepsy ISO RGD:1322480 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12253123 DHX35 DEAH-box helicase 35 gene DOID:630 genetic disease ISO RGD:1322480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253149 GUCY2C guanylate cyclase 2C gene DOID:0060296 congenital secretory chloride diarrhea 1 ISO RGD:732111 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE PMID:25741868|PMID:28492532 12253149 GUCY2C guanylate cyclase 2C gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:736529 D RGD:9068941 20220825 MouseDO 12253149 GUCY2C guanylate cyclase 2C gene DOID:0060780 congenital diarrhea 6 ISO RGD:732111 D RGD:7240710 20190904 OMIM 12253149 GUCY2C guanylate cyclase 2C gene DOID:0060780 congenital diarrhea 6 ISO RGD:732111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital diarrhea 6 PMID:22436048|PMID:24033266|PMID:25741868|PMID:28492532 12253149 GUCY2C guanylate cyclase 2C gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:732111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12253149 GUCY2C guanylate cyclase 2C gene DOID:0080216 duodenal atresia ISO RGD:732111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duodenal atresia 12253149 GUCY2C guanylate cyclase 2C gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:732111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12253149 GUCY2C guanylate cyclase 2C gene DOID:0110892 inflammatory bowel disease 1 ISO RGD:732111 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:25741868 12253149 GUCY2C guanylate cyclase 2C gene DOID:13250 diarrhea ISO RGD:732111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22436048 12253149 GUCY2C guanylate cyclase 2C gene DOID:630 genetic disease ISO RGD:732111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12253149 GUCY2C guanylate cyclase 2C gene DOID:8778 Crohn's disease ISO RGD:732111 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:25741868 12253149 GUCY2C guanylate cyclase 2C gene DOID:9006465 Meconium Ileus ISO RGD:732111 D RGD:7240710 20180130 OMIM 12253149 GUCY2C guanylate cyclase 2C gene DOID:9006465 Meconium Ileus ISO RGD:732111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | ClinVar Annotator: match by term: Meconium ileus PMID:22521417|PMID:24033266|PMID:25370039|PMID:25741868|PMID:28492532|PMID:33223529|PMID:4006357 12253149 GUCY2C guanylate cyclase 2C gene DOID:9008443 Colorectal Neoplasms ISO RGD:732111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17155897 12253149 GUCY2C guanylate cyclase 2C gene DOID:9970 obesity ISO RGD:736529 D RGD:9068941 20220825 MouseDO OMIM:601665 12253184 KLHL21 kelch like family member 21 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1351698 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12253184 KLHL21 kelch like family member 21 gene DOID:3070 high grade glioma ISO RGD:1351698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12253184 KLHL21 kelch like family member 21 gene DOID:630 genetic disease ISO RGD:1351698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253184 KLHL21 kelch like family member 21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12253192 LHX9 LIM homeobox 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1354474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12253192 LHX9 LIM homeobox 9 gene DOID:630 genetic disease ISO RGD:1354474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253192 LHX9 LIM homeobox 9 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1354474 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 12253192 LHX9 LIM homeobox 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12253204 RPL21 ribosomal protein L21 gene DOID:0110709 hypotrichosis 12 ISO RGD:68568 D RGD:7240710 20180130 OMIM 12253204 RPL21 ribosomal protein L21 gene DOID:0110709 hypotrichosis 12 ISO RGD:68568 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypotrichosis 12 PMID:19751230|PMID:21412954|PMID:25741868 12253204 RPL21 ribosomal protein L21 gene DOID:4535 hypotrichosis ISO RGD:68568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12253204 RPL21 ribosomal protein L21 gene DOID:630 genetic disease ISO RGD:68568 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253225 SNRPD3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:1826 epilepsy ISO RGD:1345342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12253225 SNRPD3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:305 carcinoma ISO RGD:1345342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12253225 SNRPD3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12253225 SNRPD3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:5419 schizophrenia ISO RGD:1345342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12253225 SNRPD3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:630 genetic disease ISO RGD:1345342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253225 SNRPD3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1345342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12253225 SNRPD3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1345342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12253225 SNRPD3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:9007429 Soft Tissue Neoplasms severity ISO RGD:1345342 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:multiple (human) PMID:20165692|REF_RGD_ID:10766477 12253225 SNRPD3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:9074 systemic lupus erythematosus ISO RGD:1345342 D RGD:9068941 20200609 RGD PMID:17640359|REF_RGD_ID:10755704 12253233 RPTOR regulatory associated protein of MTOR complex 1 gene DOID:630 genetic disease ISO RGD:1603019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253233 RPTOR regulatory associated protein of MTOR complex 1 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1603019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 12253233 RPTOR regulatory associated protein of MTOR complex 1 gene DOID:9009121 lung metastasis ISO RGD:1323418 D RGD:9068941 20220630 RGD PMID:29809146|REF_RGD_ID:152995516 12253233 RPTOR regulatory associated protein of MTOR complex 1 gene DOID:9923 developmental coordination disorder ISO RGD:1603019 D RGD:9068941 20201218 CTD CTD Direct Evidence: therapeutic PMID:32773031 12253281 NSUN4 NOP2/Sun RNA methyltransferase 4 gene DOID:630 genetic disease ISO RGD:1343230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253291 CLEC2B C-type lectin domain family 2 member B gene DOID:630 genetic disease ISO RGD:1604835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253309 CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit gene DOID:0050857 Perrault syndrome ISO RGD:1343928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:17690910|PMID:21660509|PMID:22037954|PMID:23541340|PMID:24824130 12253309 CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit gene DOID:0080490 mucolipidosis type IV ISO RGD:1343928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12253309 CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit gene DOID:630 genetic disease ISO RGD:1343928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12253309 CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit gene DOID:9002757 Perrault Syndrome 3 ISO RGD:1343928 D RGD:7240710 20180130 OMIM 12253309 CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit gene DOID:9002757 Perrault Syndrome 3 ISO RGD:1343928 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Perrault syndrome 3 PMID:17690910|PMID:21660509|PMID:22037954|PMID:23541340|PMID:24033266|PMID:24824130|PMID:25741868|PMID:26467025|PMID:27087618|PMID:28492532 12253321 SLC1A7 solute carrier family 1 member 7 gene DOID:0080600 COVID-19 ISO RGD:1323639 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12253321 SLC1A7 solute carrier family 1 member 7 gene DOID:630 genetic disease ISO RGD:1323639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253349 MPV17L MPV17 mitochondrial inner membrane protein like gene DOID:12849 autistic disorder ISO RGD:1606418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12253349 MPV17L MPV17 mitochondrial inner membrane protein like gene DOID:1826 epilepsy ISO RGD:1606418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12253349 MPV17L MPV17 mitochondrial inner membrane protein like gene DOID:5419 schizophrenia ISO RGD:1606418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12253349 MPV17L MPV17 mitochondrial inner membrane protein like gene DOID:630 genetic disease ISO RGD:1606418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253349 MPV17L MPV17 mitochondrial inner membrane protein like gene DOID:8445 intestinal volvulus ISO RGD:1606418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12253349 MPV17L MPV17 mitochondrial inner membrane protein like gene DOID:9000664 Familial Thoracic Aortic Aneurysm 4 ISO RGD:1606418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:22318994|PMID:27884122|PMID:28492532|PMID:29179725 12253349 MPV17L MPV17 mitochondrial inner membrane protein like gene DOID:9008419 Volvulus Of Midgut ISO RGD:1606418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12253375 LYPLAL1 lysophospholipase like 1 gene DOID:0050439 Usher syndrome ISO RGD:1322525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 12253375 LYPLAL1 lysophospholipase like 1 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1322525 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12253375 LYPLAL1 lysophospholipase like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1322525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12253375 LYPLAL1 lysophospholipase like 1 gene DOID:630 genetic disease ISO RGD:1322525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253375 LYPLAL1 lysophospholipase like 1 gene DOID:9006949 Martsolf Syndrome ISO RGD:1322525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 12253375 LYPLAL1 lysophospholipase like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12253384 OR2K2 olfactory receptor family 2 subfamily K member 2 gene DOID:630 genetic disease ISO RGD:1342486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253396 BMP15 bone morphogenetic protein 15 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:730933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12253396 BMP15 bone morphogenetic protein 15 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:730933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 12253396 BMP15 bone morphogenetic protein 15 gene DOID:0080494 ovarian dysgenesis 2 ISO RGD:730933 D RGD:7240710 20180130 OMIM 12253396 BMP15 bone morphogenetic protein 15 gene DOID:0080494 ovarian dysgenesis 2 ISO RGD:730933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 2 | ClinVar Annotator: match by term: Premature ovarian failure 4 PMID:15136966|PMID:16464940|PMID:16508750|PMID:16645022|PMID:18614612|PMID:19263482|PMID:20364024|PMID:20547206|PMID:25741868|PMID:28492532|PMID:31957178 12253396 BMP15 bone morphogenetic protein 15 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:730933 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 12253396 BMP15 bone morphogenetic protein 15 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:730933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12253396 BMP15 bone morphogenetic protein 15 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:730933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12253396 BMP15 bone morphogenetic protein 15 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:730933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12253396 BMP15 bone morphogenetic protein 15 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:730933 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 12253396 BMP15 bone morphogenetic protein 15 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:730933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12253396 BMP15 bone morphogenetic protein 15 gene DOID:11612 polycystic ovary syndrome ISO RGD:730933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22825968 12253396 BMP15 bone morphogenetic protein 15 gene DOID:12849 autistic disorder ISO RGD:730933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12253396 BMP15 bone morphogenetic protein 15 gene DOID:13938 amenorrhea ISO RGD:730933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12253396 BMP15 bone morphogenetic protein 15 gene DOID:5426 primary ovarian insufficiency susceptibility ISO RGD:730933 D RGD:9068941 20200609 RGD DNA:missense mutations: ;-9C>G, 308A>G, 852C>T PMID:16508750|REF_RGD_ID:1599496 12253396 BMP15 bone morphogenetic protein 15 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:730933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome 12253396 BMP15 bone morphogenetic protein 15 gene DOID:630 genetic disease ISO RGD:730933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253396 BMP15 bone morphogenetic protein 15 gene DOID:9004914 Postmenopausal Osteoporosis susceptibility ISO RGD:730933 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:5' utr, intron:g.-9C>G, IVS1+905A>G (human) PMID:22335445|REF_RGD_ID:10045849 12253403 MIR874 microRNA mir-874 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:2290213 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30004169 12253415 MAGEB3 MAGE family member B3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12253415 MAGEB3 MAGE family member B3 gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1353042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 12253415 MAGEB3 MAGE family member B3 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1353042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 12253415 MAGEB3 MAGE family member B3 gene DOID:12849 autistic disorder ISO RGD:1353042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12253415 MAGEB3 MAGE family member B3 gene DOID:630 genetic disease ISO RGD:1353042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253415 MAGEB3 MAGE family member B3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12253519 ATP5PF ATP synthase peripheral stalk subunit F6 gene DOID:10652 Alzheimer's disease ISO RGD:735304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562|PMID:25741868 12253519 ATP5PF ATP synthase peripheral stalk subunit F6 gene DOID:10825 essential hypertension ISO RGD:735304 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:14654753|REF_RGD_ID:13800915 12253519 ATP5PF ATP synthase peripheral stalk subunit F6 gene DOID:114 heart disease ISO RGD:735304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 12253519 ATP5PF ATP synthase peripheral stalk subunit F6 gene DOID:630 genetic disease ISO RGD:735304 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253519 ATP5PF ATP synthase peripheral stalk subunit F6 gene DOID:6432 pulmonary hypertension ISO RGD:621376 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, plasma (rat) PMID:27916219|REF_RGD_ID:13800892 12253519 ATP5PF ATP synthase peripheral stalk subunit F6 gene DOID:6432 pulmonary hypertension treatment ISO RGD:621376 D RGD:9068941 20200609 RGD PMID:27491388|REF_RGD_ID:13800894 12253519 ATP5PF ATP synthase peripheral stalk subunit F6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12253519 ATP5PF ATP synthase peripheral stalk subunit F6 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:621376 D RGD:9068941 20200609 RGD associated with hypertension;protein:increased expression:heart left ventricle (rat) PMID:25900768|REF_RGD_ID:11085539 12253519 ATP5PF ATP synthase peripheral stalk subunit F6 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:621376 D RGD:9068941 20200609 RGD PMID:28731155|REF_RGD_ID:13800891 12253519 ATP5PF ATP synthase peripheral stalk subunit F6 gene DOID:9008691 Liver Injury ISO RGD:621376 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:25772430|REF_RGD_ID:13800895 12253526 AGGF1 angiogenic factor with G-patch and FHA domains 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1350142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 12253526 AGGF1 angiogenic factor with G-patch and FHA domains 1 gene DOID:11193 syndactyly ISO RGD:1350142 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Non-syndromic syndactyly PMID:25741868 12253526 AGGF1 angiogenic factor with G-patch and FHA domains 1 gene DOID:630 genetic disease ISO RGD:1350142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253526 AGGF1 angiogenic factor with G-patch and FHA domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12253550 KCNK16 potassium two pore domain channel subfamily K member 16 gene DOID:630 genetic disease ISO RGD:1349439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253558 LRRC4B leucine rich repeat containing 4B gene DOID:630 genetic disease ISO RGD:1316128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253568 NEU2 neuraminidase 2 gene DOID:0060476 Perlman syndrome ISO RGD:736190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12253568 NEU2 neuraminidase 2 gene DOID:0110991 Joubert syndrome 22 ISO RGD:736190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12253568 NEU2 neuraminidase 2 gene DOID:630 genetic disease ISO RGD:736190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253581 H1-4 H1.4 linker histone, cluster member gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1345558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12253581 H1-4 H1.4 linker histone, cluster member gene DOID:630 genetic disease ISO RGD:1345558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:31447100|PMID:33270410 12253581 H1-4 H1.4 linker histone, cluster member gene DOID:9002839 Rahman Syndrome ISO RGD:1345558 D RGD:7240710 20190315 OMIM 12253581 H1-4 H1.4 linker histone, cluster member gene DOID:9002839 Rahman Syndrome ISO RGD:1345558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rahman syndrome PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:28492532|PMID:29383847|PMID:29704315|PMID:31447100|PMID:33270410 12253581 H1-4 H1.4 linker histone, cluster member gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33270410 12253581 H1-4 H1.4 linker histone, cluster member gene DOID:9008582 Developmental Disease ISO RGD:1345558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12253581 H1-4 H1.4 linker histone, cluster member gene DOID:9538 multiple myeloma ISO RGD:1345558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12253582 MOG myelin oligodendrocyte glycoprotein gene DOID:11372 megacolon ISO RGD:736817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12253582 MOG myelin oligodendrocyte glycoprotein gene DOID:1210 optic neuritis ISO RGD:3102 D RGD:9068941 20200609 RGD PMID:23860028|REF_RGD_ID:9685554 12253582 MOG myelin oligodendrocyte glycoprotein gene DOID:1210 optic neuritis ISO RGD:736817 D RGD:9068941 20200609 RGD PMID:22157536|REF_RGD_ID:9685553 12253582 MOG myelin oligodendrocyte glycoprotein gene DOID:2377 multiple sclerosis ISO RGD:736817 D RGD:9068941 20200609 RGD PMID:17142321|REF_RGD_ID:9685374 12253582 MOG myelin oligodendrocyte glycoprotein gene DOID:3213 demyelinating disease ISO RGD:736817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23360710|PMID:23547115 12253582 MOG myelin oligodendrocyte glycoprotein gene DOID:630 genetic disease ISO RGD:736817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253582 MOG myelin oligodendrocyte glycoprotein gene DOID:8986 narcolepsy ISO RGD:736817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12253582 MOG myelin oligodendrocyte glycoprotein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10909 D RGD:9068941 20200609 RGD PMID:14624757|REF_RGD_ID:9685375 12253582 MOG myelin oligodendrocyte glycoprotein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3102 D RGD:9068941 20200609 RGD PMID:10384097|PMID:12799014|REF_RGD_ID:9685372|REF_RGD_ID:9685373 12253582 MOG myelin oligodendrocyte glycoprotein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:736817 D RGD:9068941 20200609 RGD PMID:14624757|REF_RGD_ID:9685375 12253582 MOG myelin oligodendrocyte glycoprotein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:736817 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:12904460|PMID:16931536|PMID:17654737|PMID:17728465|PMID:18566399|PMID:18667803|PMID:21068375|PMID:21317386|PMID:21341682|PMID:23360710|PMID:23547115|PMID:23639249|PMID:30661753 12253582 MOG myelin oligodendrocyte glycoprotein gene DOID:9005246 Paralysis ISO RGD:736817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23547115 12253582 MOG myelin oligodendrocyte glycoprotein gene DOID:9006506 Narcolepsy 7 ISO RGD:736817 D RGD:7240710 20180130 OMIM 12253582 MOG myelin oligodendrocyte glycoprotein gene DOID:9006506 Narcolepsy 7 ISO RGD:736817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Narcolepsy 7 PMID:21907016|PMID:25741868 12253582 MOG myelin oligodendrocyte glycoprotein gene DOID:9007553 neurotoxicity treatment ISO RGD:3102 D RGD:9068941 20230323 RGD PMID:33166664|REF_RGD_ID:213230154 12253597 ZNF688 zinc finger protein 688 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1602068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12253597 ZNF688 zinc finger protein 688 gene DOID:630 genetic disease ISO RGD:1602068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253607 SIX6 SIX homeobox 6 gene DOID:0060252 sclerocornea ISO RGD:1321431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sclerocornea 12253607 SIX6 SIX homeobox 6 gene DOID:0080635 optic disc anomalies with retinal and/or macular dystrophy ISO RGD:1321431 D RGD:7240710 20200311 OMIM 12253607 SIX6 SIX homeobox 6 gene DOID:0080635 optic disc anomalies with retinal and/or macular dystrophy ISO RGD:1321431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY PMID:15266624|PMID:23167593|PMID:24702266|PMID:25741868|PMID:28492532 12253607 SIX6 SIX homeobox 6 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1321431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia PMID:25741868|PMID:28492532 12253607 SIX6 SIX homeobox 6 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1321431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:24875647|PMID:25741868|PMID:28492532 12253607 SIX6 SIX homeobox 6 gene DOID:10629 microphthalmia ISO RGD:1321431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar Annotator: match by term: Microphthalmos PMID:25741868|PMID:28492532 12253607 SIX6 SIX homeobox 6 gene DOID:11830 myopia ISO RGD:1321431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 12253607 SIX6 SIX homeobox 6 gene DOID:630 genetic disease ISO RGD:1321431 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12253607 SIX6 SIX homeobox 6 gene DOID:83 cataract ISO RGD:1321431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract 12253607 SIX6 SIX homeobox 6 gene DOID:9007101 Isolated Microphthalmia with Cataract 2 ISO RGD:1321431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus PMID:15266624|PMID:23167593|PMID:24702266|PMID:25741868|PMID:28492532 12253607 SIX6 SIX homeobox 6 gene DOID:9007844 Branchiootic Syndrome 3 ISO RGD:1321431 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Branchiootic syndrome 3 PMID:18666230|PMID:25414181|PMID:28492532 12253607 SIX6 SIX homeobox 6 gene DOID:9650 pathologic nystagmus ISO RGD:1321431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nystagmus 12253612 TECPR2 tectonin beta-propeller repeat containing 2 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1316735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12253612 TECPR2 tectonin beta-propeller repeat containing 2 gene DOID:0110801 hereditary spastic paraplegia 49 IAGP D RGD:12801476 20210603 OMIA Neuroaxonal dystrophy, TECPR2-related PMID:26555167 12253612 TECPR2 tectonin beta-propeller repeat containing 2 gene DOID:0110801 hereditary spastic paraplegia 49 ISO RGD:1316735 D RGD:7240710 20180130 OMIM 12253612 TECPR2 tectonin beta-propeller repeat containing 2 gene DOID:0110801 hereditary spastic paraplegia 49 ISO RGD:1316735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 | ClinVar Annotator: match by term: Inherited spastic paresis | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY PMID:16199547|PMID:17576681|PMID:23176824|PMID:25590979|PMID:25640679|PMID:25741868|PMID:26431026|PMID:26542466|PMID:27406698|PMID:28492532|PMID:28940097|PMID:29908077|PMID:30681437|PMID:32209221|PMID:32657593|PMID:33847017|PMID:9536098 12253612 TECPR2 tectonin beta-propeller repeat containing 2 gene DOID:10907 microcephaly ISO RGD:1316735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12253612 TECPR2 tectonin beta-propeller repeat containing 2 gene DOID:2367 neuroaxonal dystrophy ISO RGD:1316735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26555167 12253612 TECPR2 tectonin beta-propeller repeat containing 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17576681|PMID:25741868|PMID:27406698|PMID:28492532|PMID:29908077|PMID:30681437|PMID:32209221|PMID:32657593|PMID:33847017|PMID:9536098 12253612 TECPR2 tectonin beta-propeller repeat containing 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:17576681|PMID:23176824|PMID:25590979|PMID:25741868|PMID:27406698|PMID:28492532|PMID:29908077|PMID:30681437|PMID:32209221|PMID:32657593|PMID:33847017|PMID:9536098 12253612 TECPR2 tectonin beta-propeller repeat containing 2 gene DOID:630 genetic disease ISO RGD:1316735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29908077|PMID:32657593 12253612 TECPR2 tectonin beta-propeller repeat containing 2 gene DOID:9002598 Spastic Paraparesis ISO RGD:1316735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23176824 12253612 TECPR2 tectonin beta-propeller repeat containing 2 gene DOID:9005790 Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type ISO RGD:1316735 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, FRA12A type PMID:25741868|PMID:28492532 12253637 HOXB6 homeobox B6 gene DOID:630 genetic disease ISO RGD:1602502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253643 PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346757 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12253643 PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346757 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12253643 PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1346757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12253643 PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1346757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 12253643 PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346757 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12253643 PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1346757 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:15879500|PMID:20414677|PMID:28492532 12253643 PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 gene DOID:630 genetic disease ISO RGD:1346757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253682 C18H11orf86 chromosome 18 C11orf86 homolog gene DOID:1059 intellectual disability ISO RGD:2298933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12253682 C18H11orf86 chromosome 18 C11orf86 homolog gene DOID:630 genetic disease ISO RGD:2298933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253682 C18H11orf86 chromosome 18 C11orf86 homolog gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:2298933 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12253682 C18H11orf86 chromosome 18 C11orf86 homolog gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:2298933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12253727 HYKK hydroxylysine kinase gene DOID:2717 Bloom syndrome ISO RGD:1606741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12253727 HYKK hydroxylysine kinase gene DOID:630 genetic disease ISO RGD:1606741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253727 HYKK hydroxylysine kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12253727 HYKK hydroxylysine kinase gene DOID:9256 colorectal cancer ISO RGD:1606741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12253750 AP5B1 adaptor related protein complex 5 subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:1606994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12253750 AP5B1 adaptor related protein complex 5 subunit beta 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12253750 AP5B1 adaptor related protein complex 5 subunit beta 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1606994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28832565 12253750 AP5B1 adaptor related protein complex 5 subunit beta 1 gene DOID:2746 glycogen storage disease V ISO RGD:1606994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12253750 AP5B1 adaptor related protein complex 5 subunit beta 1 gene DOID:630 genetic disease ISO RGD:1606994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253750 AP5B1 adaptor related protein complex 5 subunit beta 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1606994 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12253750 AP5B1 adaptor related protein complex 5 subunit beta 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1606994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 12253760 STXBP5 syntaxin binding protein 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1347913 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12253760 STXBP5 syntaxin binding protein 5 gene DOID:630 genetic disease ISO RGD:1347913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253794 SPRYD7 SPRY domain containing 7 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1315052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12253794 SPRYD7 SPRY domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1315052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12253794 SPRYD7 SPRY domain containing 7 gene DOID:630 genetic disease ISO RGD:1315052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253812 NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1603963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:18940309|PMID:21607760|PMID:23536703|PMID:25326635|PMID:25356970|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29261183|PMID:29581464|PMID:30473481|PMID:30581749|PMID:34177781 12253812 NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:0111754 Leber plus disease ISO RGD:1603963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber plus disease PMID:25741868 12253812 NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1603963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532|PMID:29261183|PMID:30473481 12253812 NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:0112096 nuclear type mitochondrial complex I deficiency 16 ISO RGD:1603963 D RGD:7240710 20190315 OMIM 12253812 NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:0112096 nuclear type mitochondrial complex I deficiency 16 ISO RGD:1603963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 PMID:17576681|PMID:18940309|PMID:19542079|PMID:21607760|PMID:23536703|PMID:25326635|PMID:25356970|PMID:25741868|PMID:26467025|PMID:28454995|PMID:28492532|PMID:29261183|PMID:29581464|PMID:30473481|PMID:30581749|PMID:31130284|PMID:34177781|PMID:34645488|PMID:9536098 12253812 NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:3652 Leigh disease ISO RGD:1603963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease PMID:17576681|PMID:25326635|PMID:25356970|PMID:25741868|PMID:26275793|PMID:28492532|PMID:29581464|PMID:30473481|PMID:30581749|PMID:32005694|PMID:32348839|PMID:32918965|PMID:34177781|PMID:9536098 12253812 NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:630 genetic disease ISO RGD:1603963 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25326635|PMID:25356970|PMID:25741868|PMID:28492532|PMID:29261183|PMID:29581464|PMID:30473481|PMID:30581749|PMID:34177781 12253812 NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1603963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:17576681|PMID:25326635|PMID:25356970|PMID:25741868|PMID:28492532|PMID:29581464|PMID:30473481|PMID:30581749|PMID:34177781|PMID:9536098 12253837 ZNFX1 zinc finger NFX1-type containing 1 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:1603622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 PMID:28492532 12253837 ZNFX1 zinc finger NFX1-type containing 1 gene DOID:630 genetic disease ISO RGD:1603622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253837 ZNFX1 zinc finger NFX1-type containing 1 gene DOID:9003310 IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION ISO RGD:1603622 D RGD:7240710 20220209 OMIM 12253837 ZNFX1 zinc finger NFX1-type containing 1 gene DOID:9003310 IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION ISO RGD:1603622 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 91 and hyperinflammation PMID:25741868|PMID:33872655|PMID:33876776 12253854 MRPL40 mitochondrial ribosomal protein L40 gene DOID:0060041 autism spectrum disorder ISO RGD:1343765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12253854 MRPL40 mitochondrial ribosomal protein L40 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1343765 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12253854 MRPL40 mitochondrial ribosomal protein L40 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1343765 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12253854 MRPL40 mitochondrial ribosomal protein L40 gene DOID:0111996 immunodeficiency 51 ISO RGD:1343765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12253854 MRPL40 mitochondrial ribosomal protein L40 gene DOID:1059 intellectual disability ISO RGD:1343765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12253854 MRPL40 mitochondrial ribosomal protein L40 gene DOID:11198 DiGeorge syndrome ISO RGD:1343765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12253854 MRPL40 mitochondrial ribosomal protein L40 gene DOID:11372 megacolon ISO RGD:1343765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12253854 MRPL40 mitochondrial ribosomal protein L40 gene DOID:12583 velocardiofacial syndrome ISO RGD:1343765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12253854 MRPL40 mitochondrial ribosomal protein L40 gene DOID:12849 autistic disorder ISO RGD:1343765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12253854 MRPL40 mitochondrial ribosomal protein L40 gene DOID:1826 epilepsy ISO RGD:1343765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12253854 MRPL40 mitochondrial ribosomal protein L40 gene DOID:5419 schizophrenia ISO RGD:1343765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12253854 MRPL40 mitochondrial ribosomal protein L40 gene DOID:612 primary immunodeficiency disease ISO RGD:1343765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12253854 MRPL40 mitochondrial ribosomal protein L40 gene DOID:630 genetic disease ISO RGD:1343765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253854 MRPL40 mitochondrial ribosomal protein L40 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12253854 MRPL40 mitochondrial ribosomal protein L40 gene DOID:9007661 Dwarfism ISO RGD:1343765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12253854 MRPL40 mitochondrial ribosomal protein L40 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1343765 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12253862 MRPS35 mitochondrial ribosomal protein S35 gene DOID:630 genetic disease ISO RGD:1315499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253882 IL10RB interleukin 10 receptor subunit beta gene DOID:0050589 inflammatory bowel disease ISO RGD:1345772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 12253882 IL10RB interleukin 10 receptor subunit beta gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1345772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12253882 IL10RB interleukin 10 receptor subunit beta gene DOID:0060898 Parkinson's disease 20 ISO RGD:1345772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12253882 IL10RB interleukin 10 receptor subunit beta gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1345772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12253882 IL10RB interleukin 10 receptor subunit beta gene DOID:0080600 COVID-19 ISO RGD:1345772 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 12253882 IL10RB interleukin 10 receptor subunit beta gene DOID:0081267 graft-versus-host disease disease_progression ISO RGD:1345772 D RGD:9068941 20210122 RGD DNA:SNP: :rs28341676 (human) PMID:19409109|REF_RGD_ID:11046269 12253882 IL10RB interleukin 10 receptor subunit beta gene DOID:0110909 inflammatory bowel disease 25 ISO RGD:1345772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 25 PMID:16199547|PMID:16757563|PMID:17576681|PMID:19890111|PMID:21519361|PMID:22549091|PMID:24033266|PMID:24089328|PMID:24216686|PMID:25373860|PMID:25741868|PMID:27336593|PMID:27699073|PMID:28492532|PMID:29248579|PMID:29531467|PMID:30365510|PMID:31931724|PMID:9536098 12253882 IL10RB interleukin 10 receptor subunit beta gene DOID:0110909 inflammatory bowel disease 25 susceptibility ISO RGD:1345772 D RGD:7240710 20230505 OMIM 12253882 IL10RB interleukin 10 receptor subunit beta gene DOID:0111995 immunodeficiency 28 ISO RGD:1345772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 28 PMID:28492532 12253882 IL10RB interleukin 10 receptor subunit beta gene DOID:2043 hepatitis B ISO RGD:1345772 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatitis B virus, susceptibility to PMID:16757563|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29248579 12253882 IL10RB interleukin 10 receptor subunit beta gene DOID:2043 hepatitis B susceptibility ISO RGD:1345772 D RGD:7240710 20210114 OMIM 12253882 IL10RB interleukin 10 receptor subunit beta gene DOID:2316 brain ischemia ISO RGD:1345772 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 12253882 IL10RB interleukin 10 receptor subunit beta gene DOID:630 genetic disease ISO RGD:1345772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12253882 IL10RB interleukin 10 receptor subunit beta gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1560373 D RGD:9068941 20210122 RGD protein:increased expression:ileum PMID:21240009|REF_RGD_ID:5490305 12253882 IL10RB interleukin 10 receptor subunit beta gene DOID:9005698 ZTTK Syndrome ISO RGD:1345772 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 12253893 NXPE3 neurexophilin and PC-esterase domain family member 3 gene DOID:630 genetic disease ISO RGD:1348429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253908 AAMP angio associated migratory cell protein gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1607091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12253908 AAMP angio associated migratory cell protein gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1607091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12253908 AAMP angio associated migratory cell protein gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1607091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12253908 AAMP angio associated migratory cell protein gene DOID:630 genetic disease ISO RGD:1607091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253908 AAMP angio associated migratory cell protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12253927 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1321175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21187176|PMID:21844811|PMID:23044707|PMID:23495136|PMID:25255310|PMID:25741868|PMID:27569545 12253927 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:0060041 autism spectrum disorder susceptibility ISO RGD:1321175 D RGD:9068941 20200609 RGD DNA:snp:exon:c.2458G>A (rs7170637) (human) PMID:24442360|REF_RGD_ID:11558013 12253927 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1321175 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:31690835 12253927 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:0080600 COVID-19 ISO RGD:1321175 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12253927 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:0110811 hereditary spastic paraplegia 6 ISO RGD:1321175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 PMID:17268193|PMID:23032108|PMID:25689425|PMID:28492532 12253927 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:0111715 Schaaf-Yang syndrome ISO RGD:1321175 D RGD:9068941 20200609 RGD associated with Fragile X Syndrome;mRNA:decreased expression:leukocyte (human) PMID:17435464|REF_RGD_ID:11558012 12253927 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:1321175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12253927 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:12849 autistic disorder ISO RGD:1321175 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 12253927 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:14261 fragile X syndrome ISO RGD:1321176 D RGD:9068941 20200609 RGD PMID:22900020|REF_RGD_ID:11558008 12253927 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:1932 Angelman syndrome ISO RGD:1321175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome 12253927 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:1310332 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus, cerebral cortex (rat) PMID:26000921|REF_RGD_ID:11568065 12253927 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:1321175 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:temporal lobe (human) PMID:26000921|REF_RGD_ID:11568065 12253927 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:5419 schizophrenia ISO RGD:1321175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12253927 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1321175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253927 CYFIP1 cytoplasmic FMR1 interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 12253963 LYAR Ly1 antibody reactive gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1604346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12253963 LYAR Ly1 antibody reactive gene DOID:630 genetic disease ISO RGD:1604346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253975 SPA17 sperm autoantigenic protein 17 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1353517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12253975 SPA17 sperm autoantigenic protein 17 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1353517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12253975 SPA17 sperm autoantigenic protein 17 gene DOID:3965 Merkel cell carcinoma ISO RGD:1353517 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:nucleus PMID:31218705|REF_RGD_ID:27226803 12253975 SPA17 sperm autoantigenic protein 17 gene DOID:5419 schizophrenia ISO RGD:1353517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12253975 SPA17 sperm autoantigenic protein 17 gene DOID:630 genetic disease ISO RGD:1353517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12253975 SPA17 sperm autoantigenic protein 17 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353517 D RGD:9068941 20200609 RGD associated with ovarian carcinoma;proetin:increased expression:epithelium: PMID:19744347|REF_RGD_ID:27226802 12253975 SPA17 sperm autoantigenic protein 17 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1353517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12253975 SPA17 sperm autoantigenic protein 17 gene DOID:9007661 Dwarfism ISO RGD:1353517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12253987 AGRN agrin gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1606873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12253987 AGRN agrin gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606873 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12253987 AGRN agrin gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1606873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12253987 AGRN agrin gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1606873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12253987 AGRN agrin gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1606873 D RGD:7240710 20180808 OMIM 12253987 AGRN agrin gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1606873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:16199547|PMID:17576681|PMID:18414213|PMID:19631309|PMID:22205389|PMID:24951643|PMID:25741868|PMID:25741872|PMID:26467025|PMID:28221305|PMID:28492532|PMID:29258548|PMID:30994901|PMID:31167812|PMID:32221959|PMID:33059315|PMID:33756069|PMID:9536098 12253987 AGRN agrin gene DOID:0110994 Joubert syndrome 25 ISO RGD:1606873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12253987 AGRN agrin gene DOID:0111934 immunodeficiency 38 ISO RGD:1606873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12253987 AGRN agrin gene DOID:0111935 immunodeficiency 16 ISO RGD:1606873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12253987 AGRN agrin gene DOID:3635 congenital myasthenic syndrome ISO RGD:1606873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:19631309|PMID:22205389|PMID:24951643|PMID:28221305|PMID:28492532|PMID:30994901|PMID:33756069 12253987 AGRN agrin gene DOID:630 genetic disease ISO RGD:1606873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12253987 AGRN agrin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12253987 AGRN agrin gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1606873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12253987 AGRN agrin gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1606873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12253987 AGRN agrin gene DOID:9119 acute myeloid leukemia ISO RGD:1606873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12254043 APRT adenine phosphoribosyltransferase gene DOID:0060350 adenine phosphoribosyltransferase deficiency ISO RGD:1317133 D RGD:7240710 20180130 OMIM 12254043 APRT adenine phosphoribosyltransferase gene DOID:0060350 adenine phosphoribosyltransferase deficiency ISO RGD:1317133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency PMID:10393170|PMID:11243733|PMID:1353080|PMID:15571218|PMID:1673292|PMID:17126311|PMID:17576681|PMID:1781410|PMID:19435978|PMID:1985452|PMID:20150536|PMID:21304254|PMID:2135300|PMID:21635362|PMID:22212387|PMID:2227951|PMID:22988602|PMID:23430916|PMID:24459232|PMID:24940675|PMID:24986359|PMID:2502918|PMID:25741868|PMID:25983915|PMID:25984046|PMID:26724837|PMID:27994857|PMID:28492532|PMID:28566603|PMID:28717278|PMID:30106368|PMID:30355577|PMID:30389108|PMID:30890413|PMID:30993240|PMID:31201003|PMID:31440706|PMID:3343350|PMID:3554238|PMID:3680503|PMID:7685481|PMID:7758207|PMID:7912608|PMID:7915931|PMID:8882882|PMID:9298830|PMID:9521589|PMID:9536098 12254043 APRT adenine phosphoribosyltransferase gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1317133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 12254043 APRT adenine phosphoribosyltransferase gene DOID:0080653 urolithiasis ISO RGD:1317133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3876264|PMID:7766 12254043 APRT adenine phosphoribosyltransferase gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1317133 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12254043 APRT adenine phosphoribosyltransferase gene DOID:0111391 mucopolysaccharidosis IVA ISO RGD:1317133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:10479485|PMID:25545067|PMID:25741868|PMID:28492532|PMID:34387910 12254043 APRT adenine phosphoribosyltransferase gene DOID:12804 mucopolysaccharidosis IV ISO RGD:1317133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Morquio syndrome PMID:25741868|PMID:28492532 12254043 APRT adenine phosphoribosyltransferase gene DOID:14780 KBG syndrome ISO RGD:1317133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31690835 12254043 APRT adenine phosphoribosyltransferase gene DOID:4450 renal cell carcinoma ISO RGD:1317133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 12254043 APRT adenine phosphoribosyltransferase gene DOID:630 genetic disease ISO RGD:1317133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254043 APRT adenine phosphoribosyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:1307758 D RGD:9068941 20200609 RGD protein:increased activity:hepatoma (rat) PMID:6327016|REF_RGD_ID:5135035 12254043 APRT adenine phosphoribosyltransferase gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1317133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12254043 APRT adenine phosphoribosyltransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307758 D RGD:9068941 20200609 RGD protein:decreased activity:mammary gland (rat) PMID:2451510|REF_RGD_ID:1599204 12254043 APRT adenine phosphoribosyltransferase gene DOID:9008939 Breast Neoplasms ISO RGD:1317133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 12254055 SMC1A structural maintenance of chromosomes 1A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12254055 SMC1A structural maintenance of chromosomes 1A gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12254055 SMC1A structural maintenance of chromosomes 1A gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 12254055 SMC1A structural maintenance of chromosomes 1A gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:737070 D RGD:7240710 20190315 OMIM 12254055 SMC1A structural maintenance of chromosomes 1A gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:737070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome | ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 | ClinVar Annotator: match by term: SMC1A-related cohesinopathy PMID:11532960|PMID:11877377|PMID:16199547|PMID:16273072|PMID:16604071|PMID:17221863|PMID:17273969|PMID:17576681|PMID:18414213|PMID:18996922|PMID:19052029|PMID:19701948|PMID:19842212|PMID:20358602|PMID:20635401|PMID:22106055|PMID:22140011|PMID:23551878|PMID:23683030|PMID:24088041|PMID:24124034|PMID:24461912|PMID:24756084|PMID:25125236|PMID:25326635|PMID:25356970|PMID:25574841|PMID:25741868|PMID:26354354|PMID:26358754|PMID:26386245|PMID:26467025|PMID:26633545|PMID:26752331|PMID:27159028|PMID:27171548|PMID:27334371|PMID:28166369|PMID:28425213|PMID:28492532|PMID:28548707|PMID:28826797|PMID:30158690|PMID:30847515|PMID:30871455|PMID:31098032|PMID:31157197|PMID:31334757|PMID:31602316|PMID:31785789|PMID:32238909|PMID:33619735|PMID:9536098 12254055 SMC1A structural maintenance of chromosomes 1A gene DOID:0080721 calvarial doughnut lesions with bone fragility ISO RGD:737070 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: CDL PMID:18414213 12254055 SMC1A structural maintenance of chromosomes 1A gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:737070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 18 PMID:19052029|PMID:23683030|PMID:26059843|PMID:28492532 12254055 SMC1A structural maintenance of chromosomes 1A gene DOID:1059 intellectual disability ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12254055 SMC1A structural maintenance of chromosomes 1A gene DOID:10907 microcephaly ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:16604071|PMID:17273969|PMID:24124034|PMID:25125236|PMID:25741868|PMID:28425213|PMID:28492532 12254055 SMC1A structural maintenance of chromosomes 1A gene DOID:11054 urinary bladder cancer ISO RGD:737070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121791 12254055 SMC1A structural maintenance of chromosomes 1A gene DOID:11725 Cornelia de Lange syndrome ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome | ClinVar Annotator: match by term: De Lange syndrome PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 12254055 SMC1A structural maintenance of chromosomes 1A gene DOID:12849 autistic disorder ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12254055 SMC1A structural maintenance of chromosomes 1A gene DOID:1826 epilepsy ISO RGD:737070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 12254055 SMC1A structural maintenance of chromosomes 1A gene DOID:6000 congestive heart failure disease_progression ISO RGD:737070 D RGD:9068941 20221027 RGD DNA:mutations: : PMID:33779075|REF_RGD_ID:155630627 12254055 SMC1A structural maintenance of chromosomes 1A gene DOID:607 paraplegia ISO RGD:737070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12254055 SMC1A structural maintenance of chromosomes 1A gene DOID:630 genetic disease ISO RGD:737070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11532960|PMID:16604071|PMID:17273969|PMID:17576681|PMID:18414213|PMID:19701948|PMID:20635401|PMID:23551878|PMID:24124034|PMID:24756084|PMID:25125236|PMID:25356970|PMID:25741868|PMID:26467025|PMID:27159028|PMID:28425213|PMID:28492532|PMID:33619735|PMID:9536098 12254055 SMC1A structural maintenance of chromosomes 1A gene DOID:8692 myeloid leukemia ISO RGD:737070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23955599 12254055 SMC1A structural maintenance of chromosomes 1A gene DOID:9001510 Funnel Chest ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:25741868 12254055 SMC1A structural maintenance of chromosomes 1A gene DOID:9002112 Growth Deficiency and Mental Retardation with Facial Dysmorphism ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wiedemann-Steiner syndrome PMID:25574841 12254055 SMC1A structural maintenance of chromosomes 1A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 12254055 SMC1A structural maintenance of chromosomes 1A gene DOID:9004603 Atkin Syndrome ISO RGD:737070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome PMID:19052029|PMID:23683030|PMID:26059843|PMID:28492532 12254055 SMC1A structural maintenance of chromosomes 1A gene DOID:9006534 Nervous System Malformations ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12254055 SMC1A structural maintenance of chromosomes 1A gene DOID:9008086 Developmental Disabilities ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12254055 SMC1A structural maintenance of chromosomes 1A gene DOID:9008619 Developmental and Epileptic Encephalopathy 85 ISO RGD:737070 D RGD:7240710 20200429 OMIM 12254055 SMC1A structural maintenance of chromosomes 1A gene DOID:9008619 Developmental and Epileptic Encephalopathy 85 ISO RGD:737070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 85, with or without midline brain defects PMID:17273969|PMID:19701948|PMID:25741868|PMID:26358754|PMID:26386245|PMID:26752331|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:30158690|PMID:31334757 12254055 SMC1A structural maintenance of chromosomes 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:61991 D RGD:9068941 20221027 RGD mRNA:increased expression:testis: PMID:33775663|REF_RGD_ID:155631260 12254095 SLC10A3 solute carrier family 10 member 3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354490 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12254095 SLC10A3 solute carrier family 10 member 3 gene DOID:0050476 Barth syndrome ISO RGD:1354490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12254095 SLC10A3 solute carrier family 10 member 3 gene DOID:0050800 creatine transporter deficiency ISO RGD:1354490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12254095 SLC10A3 solute carrier family 10 member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12254095 SLC10A3 solute carrier family 10 member 3 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1354490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 12254095 SLC10A3 solute carrier family 10 member 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1354490 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12254095 SLC10A3 solute carrier family 10 member 3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1354490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12254095 SLC10A3 solute carrier family 10 member 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1354490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12254095 SLC10A3 solute carrier family 10 member 3 gene DOID:12849 autistic disorder ISO RGD:1354490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12254095 SLC10A3 solute carrier family 10 member 3 gene DOID:13628 favism ISO RGD:1354490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12254095 SLC10A3 solute carrier family 10 member 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1354490 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12254095 SLC10A3 solute carrier family 10 member 3 gene DOID:607 paraplegia ISO RGD:1354490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12254095 SLC10A3 solute carrier family 10 member 3 gene DOID:630 genetic disease ISO RGD:1354490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254095 SLC10A3 solute carrier family 10 member 3 gene DOID:9002720 Splenomegaly ISO RGD:1354490 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12254104 ZNF691 zinc finger protein 691 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12254104 ZNF691 zinc finger protein 691 gene DOID:630 genetic disease ISO RGD:1603045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254110 STX5 syntaxin 5 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:68634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12254110 STX5 syntaxin 5 gene DOID:1059 intellectual disability ISO RGD:68634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12254110 STX5 syntaxin 5 gene DOID:630 genetic disease ISO RGD:68634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254140 LDHAL6B lactate dehydrogenase A like 6B gene DOID:0111131 focal segmental glomerulosclerosis 6 ISO RGD:1342929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 PMID:25741868 12254140 LDHAL6B lactate dehydrogenase A like 6B gene DOID:2717 Bloom syndrome ISO RGD:1342929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12254140 LDHAL6B lactate dehydrogenase A like 6B gene DOID:630 genetic disease ISO RGD:1342929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254140 LDHAL6B lactate dehydrogenase A like 6B gene DOID:9008939 Breast Neoplasms ISO RGD:1342929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 12254140 LDHAL6B lactate dehydrogenase A like 6B gene DOID:9256 colorectal cancer ISO RGD:1342929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12254145 THBS2 thrombospondin 2 gene DOID:11713 diabetic angiopathy ISO RGD:1322186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 12254145 THBS2 thrombospondin 2 gene DOID:630 genetic disease ISO RGD:1322186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254145 THBS2 thrombospondin 2 gene DOID:9000585 Intervertebral Disc Disease ISO RGD:1322186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lumbar disc herniation, susceptibility to PMID:18455130 12254145 THBS2 thrombospondin 2 gene DOID:9000585 Intervertebral Disc Disease susceptibility ISO RGD:1322186 D RGD:7240710 20230505 OMIM 12254145 THBS2 thrombospondin 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1310979 D RGD:9068941 20200609 RGD PMID:20136391|REF_RGD_ID:2317938 12254145 THBS2 thrombospondin 2 gene DOID:9351 diabetes mellitus ISO RGD:1322186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23723366 12254171 FMNL3 formin like 3 gene DOID:630 genetic disease ISO RGD:1606996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254213 PSKH2 protein serine kinase H2 gene DOID:630 genetic disease ISO RGD:1345682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254219 DBN1 drebrin 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:732725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12254219 DBN1 drebrin 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:732725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12254219 DBN1 drebrin 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:732725 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 12254219 DBN1 drebrin 1 gene DOID:10652 Alzheimer's disease ISO RGD:732725 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampal formation: PMID:8838578|REF_RGD_ID:10395286 12254219 DBN1 drebrin 1 gene DOID:10652 Alzheimer's disease ISO RGD:737436 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus,neuronal spine: PMID:17912741|REF_RGD_ID:10398820 12254219 DBN1 drebrin 1 gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:732725 D RGD:9068941 20200609 RGD mRNA:decreased expression:parietal cortex, temporal cortex, hippocampus: PMID:18338803|REF_RGD_ID:10398821 12254219 DBN1 drebrin 1 gene DOID:11446 sciatic neuropathy ISO RGD:70885 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:11578820|REF_RGD_ID:10398813 12254219 DBN1 drebrin 1 gene DOID:14250 Down syndrome ISO RGD:732725 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex, temporal cortex: PMID:12009525|REF_RGD_ID:10398822 12254219 DBN1 drebrin 1 gene DOID:14330 Parkinson's disease treatment ISO RGD:70885 D RGD:9068941 20200609 RGD levodopainduced; protein:increased expression:striatum: PMID:23241013|REF_RGD_ID:10398811 12254219 DBN1 drebrin 1 gene DOID:1561 cognitive disorder ISO RGD:70885 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:21440628|REF_RGD_ID:10398818 12254219 DBN1 drebrin 1 gene DOID:1561 cognitive disorder ISO RGD:732725 D RGD:9068941 20200609 RGD protein:altered expression:superior temporal cortex, superior temporal cortex: PMID:16783169|REF_RGD_ID:10398823 12254219 DBN1 drebrin 1 gene DOID:224 transient cerebral ischemia ISO RGD:70885 D RGD:9068941 20200609 RGD PMID:8583659|REF_RGD_ID:10398814 12254219 DBN1 drebrin 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:70885 D RGD:9068941 20200609 RGD mRNA,protein:altered expression:hippocampus: PMID:21240918|REF_RGD_ID:10398806 12254219 DBN1 drebrin 1 gene DOID:630 genetic disease ISO RGD:732725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254219 DBN1 drebrin 1 gene DOID:8927 learning disability ISO RGD:737436 D RGD:9068941 20200609 RGD PMID:19837137|REF_RGD_ID:10398819 12254219 DBN1 drebrin 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:732725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12254219 DBN1 drebrin 1 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:70885 D RGD:9068941 20200609 RGD levodopainduced; protein:increased expression:striatum: PMID:23241013|REF_RGD_ID:10398811 12254235 ATP10B ATPase phospholipid transporting 10B (putative) gene DOID:13938 amenorrhea ISO RGD:1345428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12254235 ATP10B ATPase phospholipid transporting 10B (putative) gene DOID:630 genetic disease ISO RGD:1345428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254293 CETN1 centrin 1 gene DOID:12849 autistic disorder ISO RGD:1344937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12254293 CETN1 centrin 1 gene DOID:630 genetic disease ISO RGD:1344937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254293 CETN1 centrin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12254298 HOXB13 homeobox B13 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1319269 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:19250546|REF_RGD_ID:2314726 12254298 HOXB13 homeobox B13 gene DOID:10283 prostate cancer ISO RGD:1319269 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:15583692|REF_RGD_ID:2314731 12254298 HOXB13 homeobox B13 gene DOID:10534 stomach cancer ISO RGD:1319269 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:28492532|PMID:36988593 12254298 HOXB13 homeobox B13 gene DOID:1380 endometrial cancer ISO RGD:1319269 D RGD:9068941 20200609 RGD PMID:15756448|REF_RGD_ID:2314730 12254298 HOXB13 homeobox B13 gene DOID:1909 melanoma ISO RGD:1319269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 12254298 HOXB13 homeobox B13 gene DOID:4362 cervical cancer ISO RGD:1319269 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:16803519|REF_RGD_ID:2314728 12254298 HOXB13 homeobox B13 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1319269 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:16278676|REF_RGD_ID:2314729 12254298 HOXB13 homeobox B13 gene DOID:4905 pancreatic carcinoma ISO RGD:1319269 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:15964834|PMID:17138648|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27902461|PMID:28050579|PMID:28492532|PMID:28798948|PMID:30527799|PMID:30560549|PMID:32546843|PMID:8756292 12254298 HOXB13 homeobox B13 gene DOID:630 genetic disease ISO RGD:1319269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254298 HOXB13 homeobox B13 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319269 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:23104005|PMID:24239177|PMID:24390282|PMID:26457646|PMID:32690948|PMID:35468964 12254298 HOXB13 homeobox B13 gene DOID:9003452 Prostate Cancer, Hereditary, 9 ISO RGD:1319269 D RGD:7240710 20190315 OMIM 12254298 HOXB13 homeobox B13 gene DOID:9003452 Prostate Cancer, Hereditary, 9 ISO RGD:1319269 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 9 PMID:15964834|PMID:17138648|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27902461|PMID:28050579|PMID:28492532|PMID:28798948|PMID:30527799|PMID:30560549|PMID:31214711|PMID:32546843|PMID:8756292 12254298 HOXB13 homeobox B13 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1319269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 12254298 HOXB13 homeobox B13 gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:1319269 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12254298 HOXB13 homeobox B13 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1319269 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prostate cancer susceptibility PMID:15964834|PMID:17138648|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27902461|PMID:28050579|PMID:28492532|PMID:28798948|PMID:30527799|PMID:30560549|PMID:32546843|PMID:8756292 12254298 HOXB13 homeobox B13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28166811|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29740894|PMID:31214711|PMID:32040869|PMID:32546843|PMID:8756292|PMID:9536098 12254298 HOXB13 homeobox B13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28166811|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29740894|PMID:31214711|PMID:32040869|PMID:32338768|PMID:32546843|PMID:8756292|PMID:9536098 12254298 HOXB13 homeobox B13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319269 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28166811|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29740894|PMID:30527799|PMID:30560549|PMID:31214711|PMID:32040869|PMID:32338768|PMID:32546843|PMID:8756292|PMID:9536098 12254298 HOXB13 homeobox B13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319269 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22423909|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23104005|PMID:23129385|PMID:23292082|PMID:23457453|PMID:23518396|PMID:23535732|PMID:24026887|PMID:24148311|PMID:24497837|PMID:24550738|PMID:24740154|PMID:24818853|PMID:25206306|PMID:25629170|PMID:25741868|PMID:25874003|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26604137|PMID:26845104|PMID:26967244|PMID:27153395|PMID:27262462|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27814745|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28166811|PMID:28272408|PMID:28492532|PMID:28598379|PMID:28798948|PMID:29181843|PMID:29740894|PMID:29892050|PMID:29915322|PMID:30397198|PMID:30527799|PMID:30560549|PMID:30665703|PMID:30777372|PMID:31214711|PMID:31226226|PMID:31556563|PMID:32040869|PMID:32338768|PMID:32546843|PMID:32830201|PMID:8756292|PMID:9536098 12254298 HOXB13 homeobox B13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319269 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29471853|PMID:29740894|PMID:30527799|PMID:30560549|PMID:31214711|PMID:32040869|PMID:32338768|PMID:32546843|PMID:34799695|PMID:35031163|PMID:36988593|PMID:8756292|PMID:9536098 12254298 HOXB13 homeobox B13 gene DOID:9008939 Breast Neoplasms ISO RGD:1319269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24239177 12254298 HOXB13 homeobox B13 gene DOID:9008939 Breast Neoplasms ISO RGD:1319269 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:19250546|REF_RGD_ID:2314726 12254298 HOXB13 homeobox B13 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1319269 D RGD:9068941 20200609 RGD PMID:17453342|REF_RGD_ID:2314727 12254307 PTP4A2 protein tyrosine phosphatase 4A2 gene DOID:630 genetic disease ISO RGD:734245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254307 PTP4A2 protein tyrosine phosphatase 4A2 gene DOID:9775 diastolic heart failure ISO RGD:734245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12254317 SDHAF4 succinate dehydrogenase complex assembly factor 4 gene DOID:630 genetic disease ISO RGD:1319485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254322 DPF3 double PHD fingers 3 gene DOID:0060224 atrial fibrillation ISO RGD:1319176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12254322 DPF3 double PHD fingers 3 gene DOID:1059 intellectual disability ISO RGD:1319176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12254322 DPF3 double PHD fingers 3 gene DOID:630 genetic disease ISO RGD:1319176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254336 SH3BGRL3 SH3 domain binding glutamate rich protein like 3 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1317706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 12254336 SH3BGRL3 SH3 domain binding glutamate rich protein like 3 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1317706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12254336 SH3BGRL3 SH3 domain binding glutamate rich protein like 3 gene DOID:630 genetic disease ISO RGD:1317706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254336 SH3BGRL3 SH3 domain binding glutamate rich protein like 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12254343 COL9A3 collagen type IX alpha 3 chain gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12254343 COL9A3 collagen type IX alpha 3 chain gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1321049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12254343 COL9A3 collagen type IX alpha 3 chain gene DOID:0070304 multiple epiphyseal dysplasia 3 ISO RGD:1321049 D RGD:7240710 20230517 OMIM 12254343 COL9A3 collagen type IX alpha 3 chain gene DOID:0070304 multiple epiphyseal dysplasia 3 ISO RGD:1321049 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3 | ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3, with myopathy PMID:10090888|PMID:10655510|PMID:10678658|PMID:15551337|PMID:16199547|PMID:24033266|PMID:24273071|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31090205|PMID:33570243 12254343 COL9A3 collagen type IX alpha 3 chain gene DOID:0080046 Stickler syndrome ISO RGD:1321049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive Stickler syndrome | ClinVar Annotator: match by term: Stickler syndrome PMID:24273071|PMID:25741868|PMID:28492532|PMID:30450842|PMID:31090205|PMID:33570243 12254343 COL9A3 collagen type IX alpha 3 chain gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1321049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12254343 COL9A3 collagen type IX alpha 3 chain gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1321049 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12254343 COL9A3 collagen type IX alpha 3 chain gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12254343 COL9A3 collagen type IX alpha 3 chain gene DOID:10003 sensorineural hearing loss ISO RGD:1321049 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:25741868|PMID:28492532 12254343 COL9A3 collagen type IX alpha 3 chain gene DOID:12721 multiple epiphyseal dysplasia ISO RGD:1321049 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant PMID:28492532 12254343 COL9A3 collagen type IX alpha 3 chain gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1321049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12254343 COL9A3 collagen type IX alpha 3 chain gene DOID:1826 epilepsy ISO RGD:1321049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 12254343 COL9A3 collagen type IX alpha 3 chain gene DOID:2256 osteochondrodysplasia ISO RGD:1321049 D RGD:9068941 20200609 RGD multiple epiphyseal dysplasia, OMIM:600969, DNA:splice-site mutation PMID:10090888|REF_RGD_ID:1600695 12254343 COL9A3 collagen type IX alpha 3 chain gene DOID:5327 retinal detachment ISO RGD:1321049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal detachment PMID:25741868|PMID:28492532 12254343 COL9A3 collagen type IX alpha 3 chain gene DOID:630 genetic disease ISO RGD:1321049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24273071|PMID:25741868|PMID:28492532|PMID:30311386|PMID:31090205 12254343 COL9A3 collagen type IX alpha 3 chain gene DOID:65 connective tissue disease ISO RGD:1321049 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:11308397|PMID:11565064|PMID:15917166|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28507545|PMID:30467950 12254343 COL9A3 collagen type IX alpha 3 chain gene DOID:9000585 Intervertebral Disc Disease ISO RGD:1321049 D RGD:7240710 20230517 OMIM 12254343 COL9A3 collagen type IX alpha 3 chain gene DOID:9000585 Intervertebral Disc Disease ISO RGD:1321049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intervertebral disc disease | ClinVar Annotator: match by term: Intervertebral disc disease, susceptibility to PMID:11308397|PMID:24273071|PMID:25741868|PMID:28492532|PMID:31090205|PMID:33570243 12254343 COL9A3 collagen type IX alpha 3 chain gene DOID:9000819 Stickler Syndrome, Type VI ISO RGD:1321049 D RGD:7240710 20230517 OMIM 12254343 COL9A3 collagen type IX alpha 3 chain gene DOID:9000819 Stickler Syndrome, Type VI ISO RGD:1321049 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Stickler syndrome, type VI PMID:24273071|PMID:25741868|PMID:28492532|PMID:30450842|PMID:31090205|PMID:33570243|PMID:35241111 12254343 COL9A3 collagen type IX alpha 3 chain gene DOID:9004538 Hearing Loss ISO RGD:1321049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386 12254343 COL9A3 collagen type IX alpha 3 chain gene DOID:9006876 Autoinflammation, Immunde Dysregulation, and Eosinophilia IAGP D RGD:12801476 20210901 OMIA Oculoskeletal dysplasia 1 PMID:830631|PMID:1525714|PMID:3204050|PMID:20686772|PMID:22065099|PMID:31415586|PMID:31595625|PMID:31746146 12254377 VAMP7 vesicle associated membrane protein 7 gene DOID:0112003 immunodeficiency 33 ISO RGD:1350434 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12254377 VAMP7 vesicle associated membrane protein 7 gene DOID:11166 papillomavirus infectious disease ISO RGD:1350434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23358896 12254377 VAMP7 vesicle associated membrane protein 7 gene DOID:12849 autistic disorder ISO RGD:1350434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12254377 VAMP7 vesicle associated membrane protein 7 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1350434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23358896 12254377 VAMP7 vesicle associated membrane protein 7 gene DOID:9002720 Splenomegaly ISO RGD:1350434 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12254397 PPME1 protein phosphatase methylesterase 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1605082 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12254397 PPME1 protein phosphatase methylesterase 1 gene DOID:1059 intellectual disability ISO RGD:1605082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12254397 PPME1 protein phosphatase methylesterase 1 gene DOID:630 genetic disease ISO RGD:1605082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254415 SMKR1 small lysine rich protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:7204969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12254415 SMKR1 small lysine rich protein 1 gene DOID:630 genetic disease ISO RGD:7204969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254421 RNF225 ring finger protein 225 gene DOID:630 genetic disease ISO RGD:9587522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254429 MYO1H myosin IH gene DOID:630 genetic disease ISO RGD:1350940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254429 MYO1H myosin IH gene DOID:9001449 Congenital Central Hypoventilation Syndrome 2 and Autonomic Dysfunction ISO RGD:1350940 D RGD:7240710 20211020 OMIM 12254429 MYO1H myosin IH gene DOID:9001449 Congenital Central Hypoventilation Syndrome 2 and Autonomic Dysfunction ISO RGD:1350940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction PMID:25741868|PMID:28779001 12254463 VTI1A vesicle transport through interaction with t-SNAREs 1A gene DOID:299 adenocarcinoma ISO RGD:736863 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892161 12254463 VTI1A vesicle transport through interaction with t-SNAREs 1A gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12254463 VTI1A vesicle transport through interaction with t-SNAREs 1A gene DOID:630 genetic disease ISO RGD:736863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254463 VTI1A vesicle transport through interaction with t-SNAREs 1A gene DOID:9008443 Colorectal Neoplasms ISO RGD:736863 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892161 12254498 TMEM170A transmembrane protein 170A gene DOID:0110989 Joubert syndrome 20 ISO RGD:1604539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 20 PMID:23012439|PMID:27449316|PMID:28492532 12254498 TMEM170A transmembrane protein 170A gene DOID:2565 macular corneal dystrophy ISO RGD:1604539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 12254498 TMEM170A transmembrane protein 170A gene DOID:630 genetic disease ISO RGD:1604539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254513 MIR199-2 microRNA mir-199-2 gene DOID:1206 Rett syndrome ISO RGD:1608230 D RGD:9068941 20220825 MouseDO OMIM:312750 | OMIM:613454 12254513 MIR199-2 microRNA mir-199-2 gene DOID:1540 parathyroid carcinoma ISO RGD:1349796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12254513 MIR199-2 microRNA mir-199-2 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1349796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 12254513 MIR199-2 microRNA mir-199-2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1349796 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:24447120 12254513 MIR199-2 microRNA mir-199-2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1349796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12254513 MIR199-2 microRNA mir-199-2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12254561 BLOC1S1 biogenesis of lysosomal organelles complex 1 subunit 1 gene DOID:630 genetic disease ISO RGD:1316833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254569 APOC2 apolipoprotein C2 gene DOID:0111418 familial apolipoprotein C-II deficiency ISO RGD:1352001 D RGD:7240710 20191106 OMIM 12254569 APOC2 apolipoprotein C2 gene DOID:0111418 familial apolipoprotein C-II deficiency ISO RGD:1352001 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial apolipoprotein C-II deficiency PMID:12783430|PMID:1349286|PMID:1628605|PMID:1782747|PMID:1971748|PMID:213719|PMID:22135386|PMID:2477392|PMID:24788417|PMID:24886863|PMID:25741868|PMID:25910212|PMID:2592354|PMID:28492532|PMID:29100061|PMID:30197986|PMID:30686043|PMID:30793526|PMID:3192518|PMID:3225819|PMID:3263393|PMID:32861330|PMID:33111339|PMID:33116287|PMID:3467353|PMID:3680515|PMID:3944267|PMID:3944271|PMID:7815420|PMID:7923858|PMID:8323539|PMID:8490626 12254569 APOC2 apolipoprotein C2 gene DOID:1168 familial hyperlipidemia susceptibility ISO RGD:1352001 D RGD:9068941 20200609 RGD PMID:1782747|REF_RGD_ID:1599175 12254569 APOC2 apolipoprotein C2 gene DOID:1184 nephrotic syndrome ISO RGD:1352001 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8366982|REF_RGD_ID:2313970 12254569 APOC2 apolipoprotein C2 gene DOID:1390 hypobetalipoproteinemia ISO RGD:1352001 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:2242096|REF_RGD_ID:1601212 12254569 APOC2 apolipoprotein C2 gene DOID:14118 familial lipoprotein lipase deficiency ISO RGD:1352001 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: C-II ANAPOLIPOPROTEINEMIA PMID:12783430|PMID:1349286|PMID:1628605|PMID:1782747|PMID:1971748|PMID:213719|PMID:22135386|PMID:2477392|PMID:24788417|PMID:24886863|PMID:25741868|PMID:25910212|PMID:2592354|PMID:28492532|PMID:29100061|PMID:30197986|PMID:30686043|PMID:30793526|PMID:3225819|PMID:3263393|PMID:32861330|PMID:33111339|PMID:33116287|PMID:3467353|PMID:3680515|PMID:3944267|PMID:3944271|PMID:7815420|PMID:7923858|PMID:8323539|PMID:8490626 12254569 APOC2 apolipoprotein C2 gene DOID:2377 multiple sclerosis ISO RGD:1352001 D RGD:9068941 20200609 RGD PMID:10335523|REF_RGD_ID:1358408 12254569 APOC2 apolipoprotein C2 gene DOID:3146 lipid metabolism disorder no_association ISO RGD:1352001 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.K19T (human) PMID:7923858|REF_RGD_ID:1601206 12254569 APOC2 apolipoprotein C2 gene DOID:630 genetic disease ISO RGD:1352001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254569 APOC2 apolipoprotein C2 gene DOID:684 hepatocellular carcinoma ISO RGD:1352001 D RGD:9068941 20220908 RGD associated with hepatitis B; mRNA:increased expression:liver PMID:31211449|REF_RGD_ID:153350082 12254569 APOC2 apolipoprotein C2 gene DOID:783 end stage renal disease ISO RGD:1352001 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:8139482|REF_RGD_ID:2313968 12254569 APOC2 apolipoprotein C2 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1352001 D RGD:9068941 20200609 RGD PMID:7590197|REF_RGD_ID:1601205 12254569 APOC2 apolipoprotein C2 gene DOID:9000808 Hypercholesterolemia susceptibility ISO RGD:1352001 D RGD:9068941 20200609 RGD associated with Hypertriglyceridemia;DNA:missense mutation: :p.K38Q (human) PMID:8490626|REF_RGD_ID:1601207 12254569 APOC2 apolipoprotein C2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1352001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 12254569 APOC2 apolipoprotein C2 gene DOID:9004590 Acute Liver Failure ISO RGD:1352001 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 12254569 APOC2 apolipoprotein C2 gene DOID:9005236 Drug Eruptions ISO RGD:1352001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21055120 12254569 APOC2 apolipoprotein C2 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1352001 D RGD:9068941 20200609 RGD PMID:3944267|REF_RGD_ID:1601214 12254569 APOC2 apolipoprotein C2 gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:1352001 D RGD:9068941 20200609 RGD PMID:7590197|REF_RGD_ID:1601205 12254569 APOC2 apolipoprotein C2 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:1352001 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:1468157|REF_RGD_ID:1601208 12254569 APOC2 apolipoprotein C2 gene DOID:9007571 Hyperlipoproteinemias susceptibility ISO RGD:1352001 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.L72P (human) PMID:16153625|REF_RGD_ID:1601204 12254569 APOC2 apolipoprotein C2 gene DOID:9351 diabetes mellitus ISO RGD:1352001 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:2352345|REF_RGD_ID:2313973 12254569 APOC2 apolipoprotein C2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352001 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:12733353|PMID:3757210|REF_RGD_ID:2313953|REF_RGD_ID:2313966 12254569 APOC2 apolipoprotein C2 gene DOID:9970 obesity ISO RGD:1352001 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9002300|REF_RGD_ID:1601191 12254584 POLA2 DNA polymerase alpha 2, accessory subunit gene DOID:1059 intellectual disability ISO RGD:731623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12254584 POLA2 DNA polymerase alpha 2, accessory subunit gene DOID:1935 Bardet-Biedl syndrome ISO RGD:731623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12254584 POLA2 DNA polymerase alpha 2, accessory subunit gene DOID:2746 glycogen storage disease V ISO RGD:731623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12254584 POLA2 DNA polymerase alpha 2, accessory subunit gene DOID:3070 high grade glioma ISO RGD:731623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12254584 POLA2 DNA polymerase alpha 2, accessory subunit gene DOID:630 genetic disease ISO RGD:731623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254584 POLA2 DNA polymerase alpha 2, accessory subunit gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:731623 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12254584 POLA2 DNA polymerase alpha 2, accessory subunit gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:731623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12254606 ANKRD12 ankyrin repeat domain 12 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1320836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12254606 ANKRD12 ankyrin repeat domain 12 gene DOID:10283 prostate cancer ISO RGD:1320836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12254606 ANKRD12 ankyrin repeat domain 12 gene DOID:1059 intellectual disability ISO RGD:1320836 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12254606 ANKRD12 ankyrin repeat domain 12 gene DOID:543 dystonia ISO RGD:1320836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 12254606 ANKRD12 ankyrin repeat domain 12 gene DOID:630 genetic disease ISO RGD:1320836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254632 NTSR2 neurotensin receptor 2 gene DOID:5419 schizophrenia ISO RGD:733351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12254632 NTSR2 neurotensin receptor 2 gene DOID:630 genetic disease ISO RGD:733351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254656 HK3 hexokinase 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:736939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12254656 HK3 hexokinase 3 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:736939 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12254656 HK3 hexokinase 3 gene DOID:0112103 Sotos syndrome 1 ISO RGD:736939 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 12254656 HK3 hexokinase 3 gene DOID:2843 long QT syndrome ISO RGD:736939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12254656 HK3 hexokinase 3 gene DOID:409 liver disease ISO RGD:736939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12254656 HK3 hexokinase 3 gene DOID:630 genetic disease ISO RGD:736939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254656 HK3 hexokinase 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:736939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12254656 HK3 hexokinase 3 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:736939 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 12254680 BARHL1 BarH like homeobox 1 gene DOID:0060081 triple-receptor negative breast cancer ISO RGD:733588 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:28956815|REF_RGD_ID:14390165 12254680 BARHL1 BarH like homeobox 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12254680 BARHL1 BarH like homeobox 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:733588 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12254680 BARHL1 BarH like homeobox 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12254680 BARHL1 BarH like homeobox 1 gene DOID:0081097 Rafiq syndrome ISO RGD:733588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12254680 BARHL1 BarH like homeobox 1 gene DOID:10652 Alzheimer's disease ISO RGD:733588 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:28956815|REF_RGD_ID:14390165 12254680 BARHL1 BarH like homeobox 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12254680 BARHL1 BarH like homeobox 1 gene DOID:3070 high grade glioma ISO RGD:733588 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:28956815|REF_RGD_ID:14390165 12254680 BARHL1 BarH like homeobox 1 gene DOID:3652 Leigh disease ISO RGD:733588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12254680 BARHL1 BarH like homeobox 1 gene DOID:630 genetic disease ISO RGD:733588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254680 BARHL1 BarH like homeobox 1 gene DOID:9004538 Hearing Loss ISO RGD:733589 D RGD:9068941 20200609 RGD PMID:12091321|REF_RGD_ID:14390166 12254691 PIGA phosphatidylinositol glycan anchor biosynthesis class A gene DOID:0060284 paroxysmal nocturnal hemoglobinuria ISO RGD:1607087 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria PMID:10220445|PMID:8167330|PMID:8500164|PMID:8541558|PMID:8557259|PMID:9019395|PMID:9233558|PMID:9787183 12254691 PIGA phosphatidylinositol glycan anchor biosynthesis class A gene DOID:0060713 autosomal recessive congenital ichthyosis 4B ISO RGD:11100 D RGD:9068941 20220825 MouseDO OMIM:242500 12254691 PIGA phosphatidylinositol glycan anchor biosynthesis class A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1607087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12254691 PIGA phosphatidylinositol glycan anchor biosynthesis class A gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1607087 D RGD:7240710 20180130 OMIM 12254691 PIGA phosphatidylinositol glycan anchor biosynthesis class A gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1607087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:10087994|PMID:15307104|PMID:17576681|PMID:19377476|PMID:22305531|PMID:24259184|PMID:24259288|PMID:24357517|PMID:24706016|PMID:24759409|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26545172|PMID:27353043|PMID:28133863|PMID:28441409|PMID:28492532|PMID:2915993|PMID:29159939|PMID:29310717|PMID:29314583|PMID:29656098|PMID:31164858|PMID:31704190|PMID:32176464|PMID:32220244|PMID:32452540|PMID:33763700|PMID:34355501|PMID:34782754|PMID:8541557|PMID:8599356|PMID:8652378|PMID:9307258|PMID:9536098 12254691 PIGA phosphatidylinositol glycan anchor biosynthesis class A gene DOID:1059 intellectual disability ISO RGD:1607087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12254691 PIGA phosphatidylinositol glycan anchor biosynthesis class A gene DOID:12849 autistic disorder ISO RGD:1607087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12254691 PIGA phosphatidylinositol glycan anchor biosynthesis class A gene DOID:13636 Fanconi anemia ISO RGD:1607087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 12254691 PIGA phosphatidylinositol glycan anchor biosynthesis class A gene DOID:630 genetic disease ISO RGD:1607087 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10087994|PMID:15307104|PMID:24357517|PMID:24706016|PMID:25741868|PMID:26467025|PMID:28492532|PMID:2915993|PMID:29159939|PMID:29314583|PMID:31164858|PMID:32176464|PMID:8541557|PMID:8652378 12254691 PIGA phosphatidylinositol glycan anchor biosynthesis class A gene DOID:9004285 Paroxysmal Nocturnal Hemoglobinuria 1 ISO RGD:1607087 D RGD:7240710 20220727 OMIM 12254691 PIGA phosphatidylinositol glycan anchor biosynthesis class A gene DOID:9004285 Paroxysmal Nocturnal Hemoglobinuria 1 ISO RGD:1607087 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1 PMID:25741868|PMID:28492532|PMID:31704190|PMID:32452540|PMID:34355501 12254691 PIGA phosphatidylinositol glycan anchor biosynthesis class A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12254691 PIGA phosphatidylinositol glycan anchor biosynthesis class A gene DOID:9008096 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS ISO RGD:1607087 D RGD:7240710 20220706 OMIM 12254691 PIGA phosphatidylinositol glycan anchor biosynthesis class A gene DOID:9008096 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS ISO RGD:1607087 D RGD:8554872 20220705 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and hemochromatosis PMID:24259288|PMID:34875027 12254704 SPAST spastin gene DOID:0050952 spastic ataxia ISO RGD:1318293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:16240363|PMID:25741868|PMID:28492532 12254704 SPAST spastin gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1318293 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 PMID:28492532 12254704 SPAST spastin gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1318293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant PMID:26467025|PMID:28492532 12254704 SPAST spastin gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:1318293 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 PMID:25741868 12254704 SPAST spastin gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1318293 D RGD:7240710 20180130 OMIM 12254704 SPAST spastin gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1318293 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of PMID:10493830|PMID:10610178|PMID:10699187|PMID:10980739|PMID:11015453|PMID:11039577|PMID:11087788|PMID:11134375|PMID:11309678|PMID:11359470|PMID:11704932|PMID:11809724|PMID:11843700|PMID:11985387|PMID:12023066|PMID:12124993|PMID:12161613|PMID:12163196|PMID:12202986|PMID:12471215|PMID:12552568|PMID:12736085|PMID:12939659|PMID:14732620|PMID:15159500|PMID:15210521|PMID:15248095|PMID:15326248|PMID:15482961|PMID:15637712|PMID:15667412|PMID:15716377|PMID:15841487|PMID:16009377|PMID:16009769|PMID:16055926|PMID:16199547|PMID:16240363|PMID:16476945|PMID:16682546|PMID:16684598|PMID:16788734|PMID:16832076|PMID:17035675|PMID:17098887|PMID:17100993|PMID:17345589|PMID:17560499|PMID:17576681|PMID:17594340|PMID:17597328|PMID:17598600|PMID:17895902|PMID:17916079|PMID:17957230|PMID:17971434|PMID:18202664|PMID:18410514|PMID:18608088|PMID:18613979|PMID:18664244|PMID:18701882|PMID:18975132|PMID:19423133|PMID:19438933|PMID:19763152|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20307669|PMID:20430936|PMID:20491894|PMID:20550563|PMID:20559269|PMID:20562464|PMID:20665701|PMID:20718791|PMID:20843780|PMID:20932283|PMID:21546041|PMID:21659953|PMID:21834905|PMID:21888932|PMID:22203332|PMID:22406018|PMID:22552817|PMID:22817815|PMID:22960362|PMID:23252998|PMID:23279441|PMID:23400676|PMID:23833562|PMID:24033003|PMID:24033266|PMID:24215330|PMID:24381312|PMID:24451228|PMID:24478365|PMID:24690193|PMID:24731568|PMID:24824479|PMID:25045380|PMID:25065914|PMID:25326635|PMID:25326637|PMID:25341883|PMID:25421405|PMID:25454648|PMID:25525159|PMID:25658484|PMID:25741868|PMID:25741869|PMID:26086985|PMID:26094131|PMID:26165777|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26600529|PMID:26671083|PMID:27084228|PMID:27108959|PMID:27260292|PMID:27276562|PMID:27334366|PMID:27688599|PMID:27871443|PMID:27942873|PMID:27957547|PMID:28160950|PMID:28492532|PMID:28495799|PMID:28572275|PMID:29112992|PMID:29246610|PMID:29389947|PMID:29421991|PMID:29691679|PMID:29761117|PMID:29908077|PMID:29934652|PMID:29980238|PMID:30476002|PMID:30520996|PMID:30564185|PMID:30780198|PMID:31134136|PMID:31157359|PMID:31227335|PMID:31407473|PMID:31594988|PMID:31630374|PMID:31751864|PMID:31851166|PMID:32989326|PMID:33098801|PMID:33624935|PMID:34008892|PMID:9536098|PMID:9695811 12254704 SPAST spastin gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1318293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of PMID:10493830|PMID:10610178|PMID:10699187|PMID:10980739|PMID:11015453|PMID:11039577|PMID:11087788|PMID:11134375|PMID:11309678|PMID:11359470|PMID:11704932|PMID:11809724|PMID:11843700|PMID:11985387|PMID:12023066|PMID:12124993|PMID:12161613|PMID:12163196|PMID:12202986|PMID:12471215|PMID:12552568|PMID:12736085|PMID:12939659|PMID:14732620|PMID:15095758|PMID:15159500|PMID:15210521|PMID:15248095|PMID:15326248|PMID:15482961|PMID:15637712|PMID:15667412|PMID:15716377|PMID:15841487|PMID:16009377|PMID:16009769|PMID:16055926|PMID:16199547|PMID:16240363|PMID:16476945|PMID:16682546|PMID:16684598|PMID:16788734|PMID:16832076|PMID:17035675|PMID:17098887|PMID:17100993|PMID:17345589|PMID:17576681|PMID:17594340|PMID:17597328|PMID:17598599|PMID:17598600|PMID:17690846|PMID:17895902|PMID:17916079|PMID:17957230|PMID:17971434|PMID:18202664|PMID:18608088|PMID:18613979|PMID:18664244|PMID:18701882|PMID:18975132|PMID:19289482|PMID:19423133|PMID:19438933|PMID:19494379|PMID:19763152|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20307669|PMID:20430936|PMID:20491894|PMID:20550563|PMID:20559269|PMID:20562464|PMID:20665701|PMID:20718791|PMID:20843780|PMID:20932283|PMID:21546041|PMID:21659953|PMID:21834905|PMID:21888932|PMID:22203332|PMID:22406018|PMID:22552817|PMID:22817815|PMID:22960362|PMID:23238845|PMID:23252998|PMID:23264559|PMID:23279441|PMID:23400676|PMID:23833562|PMID:24033003|PMID:24033266|PMID:24215330|PMID:24381312|PMID:24417445|PMID:24451228|PMID:24478365|PMID:24648003|PMID:24690193|PMID:24731568|PMID:24824479|PMID:25045380|PMID:25065914|PMID:25326635|PMID:25326637|PMID:25341883|PMID:25421405|PMID:25454648|PMID:25525159|PMID:25658484|PMID:25741868|PMID:25741869|PMID:26086985|PMID:26094131|PMID:26165777|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26600529|PMID:26671083|PMID:27077743|PMID:27084228|PMID:27108959|PMID:27260292|PMID:27276562|PMID:27334366|PMID:27688599|PMID:27871443|PMID:27942873|PMID:27957547|PMID:28160950|PMID:28492532|PMID:28495799|PMID:28572275|PMID:29112992|PMID:29246610|PMID:29389947|PMID:29421991|PMID:29691679|PMID:29761117|PMID:29907907|PMID:29908077|PMID:29934652|PMID:29980238|PMID:30006150|PMID:30375765|PMID:30476002|PMID:30489674|PMID:30520996|PMID:30528841|PMID:30564185|PMID:30747022|PMID:30778698|PMID:31134136|PMID:31157359|PMID:31227335|PMID:31407473|PMID:31594988|PMID:31630374|PMID:31692161|PMID:31751864|PMID:31851166|PMID:32092540|PMID:32522921|PMID:32650125|PMID:32655478|PMID:32908740|PMID:32989326|PMID:33098801|PMID:33446253|PMID:33624935|PMID:33638609|PMID:34008892|PMID:34114234|PMID:34507445|PMID:34753439|PMID:35303589|PMID:9536098 12254704 SPAST spastin gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1318293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of PMID:10493830|PMID:10610178|PMID:10699187|PMID:10980739|PMID:11015453|PMID:11039577|PMID:11087788|PMID:11134375|PMID:11309678|PMID:11359470|PMID:11704932|PMID:11809724|PMID:11843700|PMID:11985387|PMID:12023066|PMID:12124993|PMID:12161613|PMID:12163196|PMID:12202986|PMID:12471215|PMID:12552568|PMID:12736085|PMID:12939659|PMID:14732620|PMID:15095758|PMID:15159500|PMID:15210521|PMID:15248095|PMID:15326248|PMID:15482961|PMID:15637712|PMID:15667412|PMID:15716377|PMID:15841487|PMID:16009377|PMID:16009769|PMID:16055926|PMID:16199547|PMID:16240363|PMID:16476945|PMID:16682546|PMID:16684598|PMID:16788734|PMID:16832076|PMID:17035675|PMID:17098887|PMID:17100993|PMID:17345589|PMID:17560499|PMID:17576681|PMID:17594340|PMID:17597328|PMID:17598599|PMID:17598600|PMID:17690846|PMID:17895902|PMID:17916079|PMID:17957230|PMID:17971434|PMID:18202664|PMID:18608088|PMID:18613979|PMID:18664244|PMID:18701882|PMID:18975132|PMID:19289482|PMID:19423133|PMID:19438933|PMID:19494379|PMID:19763152|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20307669|PMID:20430936|PMID:20491894|PMID:20550563|PMID:20559269|PMID:20562464|PMID:20665701|PMID:20718791|PMID:20843780|PMID:20932283|PMID:21546041|PMID:21659953|PMID:21834905|PMID:21888932|PMID:21896784|PMID:22203332|PMID:22406018|PMID:22552817|PMID:22817815|PMID:22960362|PMID:23238845|PMID:23252998|PMID:23264559|PMID:23279441|PMID:23400676|PMID:23833562|PMID:24033003|PMID:24033266|PMID:24215330|PMID:24381312|PMID:24417445|PMID:24451228|PMID:24478365|PMID:24648003|PMID:24690193|PMID:24731568|PMID:24824479|PMID:25045380|PMID:25065914|PMID:25326635|PMID:25326637|PMID:25341883|PMID:25421405|PMID:25454648|PMID:25525159|PMID:25640679|PMID:25658484|PMID:25741868|PMID:25741869|PMID:26086985|PMID:26094131|PMID:26165777|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26600529|PMID:26671083|PMID:27077743|PMID:27084228|PMID:27108959|PMID:27260292|PMID:27276562|PMID:27334366|PMID:27688599|PMID:27871443|PMID:27942873|PMID:27957547|PMID:28160950|PMID:28492532|PMID:28495799|PMID:28572275|PMID:29112992|PMID:29246610|PMID:29389947|PMID:29421991|PMID:29691679|PMID:29761117|PMID:29907907|PMID:29908077|PMID:29934652|PMID:29980238|PMID:30006150|PMID:30375765|PMID:30476002|PMID:30489674|PMID:30520996|PMID:30528841|PMID:30564185|PMID:30747022|PMID:30778698|PMID:31134136|PMID:31157359|PMID:31227335|PMID:31407473|PMID:31594988|PMID:31630374|PMID:31692161|PMID:31751864|PMID:31851166|PMID:32092540|PMID:32522921|PMID:32650125|PMID:32655478|PMID:32908740|PMID:32989326|PMID:33098801|PMID:33446253|PMID:33624935|PMID:33638609|PMID:34008892|PMID:34114234|PMID:34507445|PMID:34753439|PMID:35303589|PMID:9536098 12254704 SPAST spastin gene DOID:1826 epilepsy ISO RGD:1318293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:16832076|PMID:20932283|PMID:25741868|PMID:26467025|PMID:28492532 12254704 SPAST spastin gene DOID:1969 cerebral palsy ISO RGD:1318293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:11015453|PMID:11809724|PMID:15248095|PMID:15326248|PMID:16240363|PMID:16832076|PMID:17594340|PMID:17895902|PMID:17916079|PMID:17971434|PMID:18608088|PMID:18613979|PMID:18701882|PMID:18975132|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20430936|PMID:20562464|PMID:20665701|PMID:20718791|PMID:22817815|PMID:23252998|PMID:24215330|PMID:25326637|PMID:25341883|PMID:25741868|PMID:26467025|PMID:27084228|PMID:27334366|PMID:28492532|PMID:28572275|PMID:29908077|PMID:30564185|PMID:31134136|PMID:34008892 12254704 SPAST spastin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1318293 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:10610178|PMID:10699187|PMID:11015453|PMID:11039577|PMID:11087788|PMID:11309678|PMID:11809724|PMID:11843700|PMID:12124993|PMID:12161613|PMID:12552568|PMID:15159500|PMID:15210521|PMID:15248095|PMID:15326248|PMID:15482961|PMID:15716377|PMID:15841487|PMID:16009769|PMID:16055926|PMID:16199547|PMID:16240363|PMID:16476945|PMID:16682546|PMID:16832076|PMID:17576681|PMID:17594340|PMID:17597328|PMID:17598600|PMID:17690846|PMID:17895902|PMID:17916079|PMID:17957230|PMID:17971434|PMID:18202664|PMID:18608088|PMID:18613979|PMID:18701882|PMID:19289482|PMID:19423133|PMID:19438933|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20430936|PMID:20562464|PMID:20665701|PMID:20718791|PMID:20932283|PMID:21834905|PMID:21888932|PMID:22552817|PMID:22817815|PMID:22960362|PMID:23252998|PMID:23264559|PMID:24033003|PMID:24033266|PMID:24381312|PMID:24451228|PMID:24857849|PMID:25045380|PMID:25326637|PMID:25341883|PMID:25421405|PMID:25454648|PMID:25525159|PMID:25658484|PMID:25741868|PMID:25741869|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26600529|PMID:26671083|PMID:27084228|PMID:27108959|PMID:27229699|PMID:27260292|PMID:27276562|PMID:27334366|PMID:27688599|PMID:27871443|PMID:27957547|PMID:28492532|PMID:28572275|PMID:28832565|PMID:29112992|PMID:29246610|PMID:29421991|PMID:29761117|PMID:29934652|PMID:29980238|PMID:30006150|PMID:30476002|PMID:30528841|PMID:30564185|PMID:30778698|PMID:31157359|PMID:31227335|PMID:31594988|PMID:31630374|PMID:31751864|PMID:31851166|PMID:32092540|PMID:33624935|PMID:34008892|PMID:34753439|PMID:9536098 12254704 SPAST spastin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1318293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:10610178|PMID:10699187|PMID:11015453|PMID:11039577|PMID:11087788|PMID:11309678|PMID:11809724|PMID:11843700|PMID:12124993|PMID:12161613|PMID:12552568|PMID:15095758|PMID:15159500|PMID:15210521|PMID:15248095|PMID:15326248|PMID:15482961|PMID:15716377|PMID:15841487|PMID:16009769|PMID:16055926|PMID:16199547|PMID:16240363|PMID:16476945|PMID:16682546|PMID:16832076|PMID:17576681|PMID:17594340|PMID:17597328|PMID:17598600|PMID:17690846|PMID:17895902|PMID:17916079|PMID:17957230|PMID:17971434|PMID:18202664|PMID:18608088|PMID:18613979|PMID:18701882|PMID:19289482|PMID:19423133|PMID:19438933|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20430936|PMID:20559269|PMID:20562464|PMID:20665701|PMID:20718791|PMID:20932283|PMID:21834905|PMID:21888932|PMID:22552817|PMID:22817815|PMID:22960362|PMID:23252998|PMID:23264559|PMID:23400676|PMID:24033003|PMID:24033266|PMID:24381312|PMID:24451228|PMID:24857849|PMID:25045380|PMID:25326637|PMID:25341883|PMID:25421405|PMID:25454648|PMID:25525159|PMID:25658484|PMID:25741868|PMID:25741869|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26600529|PMID:26671083|PMID:27084228|PMID:27108959|PMID:27229699|PMID:27260292|PMID:27276562|PMID:27334366|PMID:27688599|PMID:27871443|PMID:27957547|PMID:28492532|PMID:28572275|PMID:28832565|PMID:29112992|PMID:29246610|PMID:29421991|PMID:29691679|PMID:29761117|PMID:29934652|PMID:29980238|PMID:30006150|PMID:30476002|PMID:30528841|PMID:30564185|PMID:30778698|PMID:31157359|PMID:31227335|PMID:31594988|PMID:31630374|PMID:31751864|PMID:31851166|PMID:32092540|PMID:33624935|PMID:34008892|PMID:34753439|PMID:9536098 12254704 SPAST spastin gene DOID:607 paraplegia ISO RGD:1318293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:16240363|PMID:17100993|PMID:20718791|PMID:20932283|PMID:23833562|PMID:24824479|PMID:25341883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32581362 12254704 SPAST spastin gene DOID:630 genetic disease ISO RGD:1318293 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10610178|PMID:10699187|PMID:11309678|PMID:11809724|PMID:12161613|PMID:12202986|PMID:14732620|PMID:15095758|PMID:15716377|PMID:16009769|PMID:16055926|PMID:16240363|PMID:16682546|PMID:18202664|PMID:18701882|PMID:19875132|PMID:20562464|PMID:20932283|PMID:21888932|PMID:22552817|PMID:22960362|PMID:25045380|PMID:25741868|PMID:25741869|PMID:26208798|PMID:26467025|PMID:26600529|PMID:27084228|PMID:27260292|PMID:27334366|PMID:27871443|PMID:28492532|PMID:29112992|PMID:29421991|PMID:29761117|PMID:29934652|PMID:29980238|PMID:30006150|PMID:30476002|PMID:30564185|PMID:31227335|PMID:31594988|PMID:31630374|PMID:33624935|PMID:34753439 12254704 SPAST spastin gene DOID:9002598 Spastic Paraparesis ISO RGD:1318293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraparesis PMID:10610178|PMID:11309678|PMID:12161613|PMID:15716377|PMID:16009769|PMID:16055926|PMID:16682546|PMID:17594340|PMID:17957230|PMID:18701882|PMID:19438933|PMID:20562464|PMID:20718791|PMID:25658484|PMID:25741868|PMID:26208798|PMID:27334366|PMID:28492532 12254704 SPAST spastin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318293 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12254704 SPAST spastin gene DOID:9007428 Muscle Spasticity ISO RGD:1318293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spasticity PMID:10699187|PMID:11809724|PMID:11843700|PMID:15841487|PMID:20214791|PMID:20718791|PMID:20932283|PMID:22960362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29761117|PMID:29934652 12254704 SPAST spastin gene DOID:9007892 Tics ISO RGD:1318293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Motor tics | ClinVar Annotator: match by term: Tics PMID:10493830|PMID:11039577|PMID:16788734|PMID:17100993|PMID:17971434|PMID:25741868|PMID:28492532|PMID:32989326 12254704 SPAST spastin gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:1318293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis PMID:28492532 12254730 CHAD chondroadherin gene DOID:630 genetic disease ISO RGD:734435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254738 LRRC74A leucine rich repeat containing 74A gene DOID:1059 intellectual disability ISO RGD:1351641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12254738 LRRC74A leucine rich repeat containing 74A gene DOID:630 genetic disease ISO RGD:1351641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254763 DEDD2 death effector domain containing 2 gene DOID:0050888 syndromic intellectual disability ISO RGD:1353632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 12254763 DEDD2 death effector domain containing 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1353632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12254763 DEDD2 death effector domain containing 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1353632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12254763 DEDD2 death effector domain containing 2 gene DOID:2340 craniosynostosis ISO RGD:1353632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:23354439|PMID:26097063|PMID:28492532|PMID:28808027 12254763 DEDD2 death effector domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1353632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12254763 DEDD2 death effector domain containing 2 gene DOID:630 genetic disease ISO RGD:1353632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254763 DEDD2 death effector domain containing 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1353632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12254763 DEDD2 death effector domain containing 2 gene DOID:9269 maple syrup urine disease ISO RGD:1353632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12254786 PRR29 proline rich 29 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1603374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 12254786 PRR29 proline rich 29 gene DOID:630 genetic disease ISO RGD:1603374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254798 RASL11A RAS like family 11 member A gene DOID:289 endometriosis ISO RGD:1343885 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12254798 RASL11A RAS like family 11 member A gene DOID:630 genetic disease ISO RGD:1343885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254798 RASL11A RAS like family 11 member A gene DOID:9008443 Colorectal Neoplasms ISO RGD:1343885 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30224643 12254806 SLITRK6 SLIT and NTRK like family member 6 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1315229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12254806 SLITRK6 SLIT and NTRK like family member 6 gene DOID:0111628 high myopia-sensorineural deafness syndrome ISO RGD:1315229 D RGD:7240710 20180130 OMIM 12254806 SLITRK6 SLIT and NTRK like family member 6 gene DOID:0111628 high myopia-sensorineural deafness syndrome ISO RGD:1315229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia-sensorineural deafness syndrome PMID:23543054|PMID:23946138|PMID:24033266|PMID:25363768|PMID:25741868|PMID:28407358|PMID:28492532|PMID:30311386 12254806 SLITRK6 SLIT and NTRK like family member 6 gene DOID:10003 sensorineural hearing loss ISO RGD:1315230 D RGD:9068941 20220825 MouseDO OMIM:304400 12254806 SLITRK6 SLIT and NTRK like family member 6 gene DOID:3007 breast ductal carcinoma ISO RGD:1315229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12254806 SLITRK6 SLIT and NTRK like family member 6 gene DOID:630 genetic disease ISO RGD:1315229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 12254806 SLITRK6 SLIT and NTRK like family member 6 gene DOID:9004538 Hearing Loss ISO RGD:1315229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:28492532|PMID:30311386 12254806 SLITRK6 SLIT and NTRK like family member 6 gene DOID:9008086 Developmental Disabilities ISO RGD:1315229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741897 12254844 GLUL glutamate-ammonia ligase gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:730955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12254844 GLUL glutamate-ammonia ligase gene DOID:10652 Alzheimer's disease ISO RGD:730955 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid:significant increase in active protein vs normal patients and controls with other neurological disorders PMID:1361232|REF_RGD_ID:2301429 12254844 GLUL glutamate-ammonia ligase gene DOID:10652 Alzheimer's disease ISO RGD:730955 D RGD:9068941 20200609 RGD protein:increased oxidation:brain PMID:12160938|REF_RGD_ID:2301427 12254844 GLUL glutamate-ammonia ligase gene DOID:11832 visual epilepsy ISO RGD:2710 D RGD:9068941 20200609 RGD PMID:21935729|REF_RGD_ID:10047087 12254844 GLUL glutamate-ammonia ligase gene DOID:12858 Huntington's disease ISO RGD:730955 D RGD:9068941 20200609 RGD PMID:3159462|PMID:6237280|REF_RGD_ID:10046047|REF_RGD_ID:13524508 12254844 GLUL glutamate-ammonia ligase gene DOID:13413 hepatic encephalopathy ISO RGD:730955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10564534 12254844 GLUL glutamate-ammonia ligase gene DOID:1540 parathyroid carcinoma ISO RGD:730955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12254844 GLUL glutamate-ammonia ligase gene DOID:3328 temporal lobe epilepsy ISO RGD:2710 D RGD:9068941 20200609 RGD inhibition results in recurrent seizures PMID:18669513|REF_RGD_ID:2301554 12254844 GLUL glutamate-ammonia ligase gene DOID:3328 temporal lobe epilepsy ISO RGD:730955 D RGD:9068941 20200609 RGD protein:decreased expression, decreased activity:hippocampus PMID:14723991|REF_RGD_ID:2301555 12254844 GLUL glutamate-ammonia ligase gene DOID:3328 temporal lobe epilepsy ISO RGD:736181 D RGD:9068941 20220825 MouseDO 12254844 GLUL glutamate-ammonia ligase gene DOID:5419 schizophrenia ISO RGD:730955 D RGD:9068941 20200609 RGD protein:decreased expression:superior temporal gyrus, anterior cingulate cortex PMID:18562176|REF_RGD_ID:2301556 12254844 GLUL glutamate-ammonia ligase gene DOID:630 genetic disease ISO RGD:730955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254844 GLUL glutamate-ammonia ligase gene DOID:684 hepatocellular carcinoma ISO RGD:730955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 12254844 GLUL glutamate-ammonia ligase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:730955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20118494|PMID:21147764 12254844 GLUL glutamate-ammonia ligase gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:730955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16267323 12254844 GLUL glutamate-ammonia ligase gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:730955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12254844 GLUL glutamate-ammonia ligase gene DOID:9008125 Glutamine Deficiency, Congenital ISO RGD:730955 D RGD:7240710 20180130 OMIM 12254844 GLUL glutamate-ammonia ligase gene DOID:9008125 Glutamine Deficiency, Congenital ISO RGD:730955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GLUTAMINE SYNTHASE DEFICIENCY, CONGENITAL SYSTEMIC | ClinVar Annotator: match by term: Glutamine deficiency, congenital | ClinVar Annotator: match by term: Glutamine synthetase deficiency, congenital systemic PMID:16267323|PMID:17576681|PMID:21353613|PMID:25741868|PMID:27775558|PMID:28492532|PMID:33150193|PMID:9536098 12254844 GLUL glutamate-ammonia ligase gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:2710 D RGD:9068941 20200609 RGD PMID:6445277|REF_RGD_ID:10047091 12254844 GLUL glutamate-ammonia ligase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12254844 GLUL glutamate-ammonia ligase gene DOID:9970 obesity ISO RGD:2710 D RGD:9068941 20200609 RGD protein:increased activity:skeletal muscle:activity is increased in Zucker fa/fa genetically obese but not dietary obese (fa/?) rats vs non-obese (fa/?) rats PMID:15481771|REF_RGD_ID:2301479 12254844 GLUL glutamate-ammonia ligase gene DOID:9970 obesity ISO RGD:730955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12254858 CYB5R3 cytochrome b5 reductase 3 gene DOID:0060076 estrogen-receptor negative breast cancer disease_progression ISO RGD:731731 D RGD:9068941 20200609 RGD PMID:26351264|REF_RGD_ID:11040536 12254858 CYB5R3 cytochrome b5 reductase 3 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:731731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 12254858 CYB5R3 cytochrome b5 reductase 3 gene DOID:1059 intellectual disability ISO RGD:731731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 12254858 CYB5R3 cytochrome b5 reductase 3 gene DOID:10783 methemoglobinemia ISO RGD:731731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16469290 12254858 CYB5R3 cytochrome b5 reductase 3 gene DOID:10783 methemoglobinemia ISO RGD:731731 D RGD:9068941 20200609 RGD DNA:point mutations, splice-site mutation: ;535G>A, 757G>A, 379A>G, IVS4-2A>G PMID:11295830|REF_RGD_ID:1599771 12254858 CYB5R3 cytochrome b5 reductase 3 gene DOID:1612 breast cancer susceptibility ISO RGD:731731 D RGD:9068941 20200609 RGD DNA:polymporhism:(rs8190370)(human) PMID:25225034|REF_RGD_ID:11040537 12254858 CYB5R3 cytochrome b5 reductase 3 gene DOID:630 genetic disease ISO RGD:731731 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18318771|PMID:21349748|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654|PMID:9886302 12254858 CYB5R3 cytochrome b5 reductase 3 gene DOID:9000781 Cyanosis ISO RGD:731731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16469290 12254858 CYB5R3 cytochrome b5 reductase 3 gene DOID:9002339 NADH Cytochrome B5 Reductase Deficiency IAGP D RGD:12801476 20220914 OMIA Methaemoglobinaemia, CYB5R3-related PMID:28963729|PMID:29356095|PMID:33342963|PMID:35202847 12254858 CYB5R3 cytochrome b5 reductase 3 gene DOID:9002339 NADH Cytochrome B5 Reductase Deficiency ISO RGD:731731 D RGD:7240710 20180130 OMIM 12254858 CYB5R3 cytochrome b5 reductase 3 gene DOID:9002339 NADH Cytochrome B5 Reductase Deficiency ISO RGD:731731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary methemoglobinemia | ClinVar Annotator: match by term: METHEMOGLOBINEMIA, TYPE II | ClinVar Annotator: match by term: Methemoglobinemia, type I | ClinVar Annotator: match by term: NADH methemoglobin reductase deficiency PMID:10807796|PMID:10874300|PMID:11159544|PMID:11295830|PMID:12393396|PMID:12756024|PMID:1400360|PMID:15921385|PMID:15953014|PMID:16199547|PMID:16310381|PMID:16748235|PMID:1707593|PMID:18318771|PMID:1898726|PMID:19062529|PMID:2107882|PMID:21349748|PMID:22627575|PMID:23866629|PMID:24033266|PMID:24266649|PMID:25058800|PMID:25741868|PMID:27879543|PMID:28492532|PMID:29482478|PMID:3680497|PMID:4063522|PMID:7668255|PMID:7718898|PMID:8119939|PMID:8427971|PMID:9266404|PMID:9695975 12254858 CYB5R3 cytochrome b5 reductase 3 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:731731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 12254869 CCDC180 coiled-coil domain containing 180 gene DOID:10316 pneumoconiosis ISO RGD:4110705 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 12254869 CCDC180 coiled-coil domain containing 180 gene DOID:1059 intellectual disability ISO RGD:4110705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12254869 CCDC180 coiled-coil domain containing 180 gene DOID:3007 breast ductal carcinoma ISO RGD:4110705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12254869 CCDC180 coiled-coil domain containing 180 gene DOID:630 genetic disease ISO RGD:4110705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254910 C5 complement C5 gene DOID:0060284 paroxysmal nocturnal hemoglobinuria ISO RGD:735934 D RGD:7240710 20180130 OMIM 12254910 C5 complement C5 gene DOID:0060284 paroxysmal nocturnal hemoglobinuria ISO RGD:735934 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Eculizumab, poor response to PMID:24521109|PMID:25741868|PMID:28492532 12254910 C5 complement C5 gene DOID:0080600 COVID-19 ISO RGD:735934 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12254910 C5 complement C5 gene DOID:0080600 COVID-19 severity ISO RGD:10261 D RGD:9068941 20200625 RGD protein:increased expression:plasma (human) PMID:32417135|REF_RGD_ID:30310235 12254910 C5 complement C5 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:10261 D RGD:9068941 20200609 RGD PMID:11292607|REF_RGD_ID:5130168 12254910 C5 complement C5 gene DOID:10283 prostate cancer ISO RGD:735934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12254910 C5 complement C5 gene DOID:11394 adult respiratory distress syndrome ISO RGD:2237 D RGD:9068941 20200609 RGD associated with Burns (epidermis) PMID:10486240|REF_RGD_ID:1600658 12254910 C5 complement C5 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735934 D RGD:9068941 20200609 RGD associated with Sepsis;protein:increased activation:plasma PMID:3264125|REF_RGD_ID:5130150 12254910 C5 complement C5 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735934 D RGD:9068941 20200609 RGD protein:increased activation:respiratory system fluid/secretion PMID:3826891|REF_RGD_ID:5130153 12254910 C5 complement C5 gene DOID:12134 factor VIII deficiency ISO RGD:735934 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:6912882|REF_RGD_ID:11041156 12254910 C5 complement C5 gene DOID:1227 neutropenia ISO RGD:2237 D RGD:9068941 20200609 RGD PMID:10188960|REF_RGD_ID:1600665 12254910 C5 complement C5 gene DOID:1227 neutropenia ISO RGD:735934 D RGD:9068941 20200609 RGD PMID:10516626|REF_RGD_ID:5130180 12254910 C5 complement C5 gene DOID:1485 cystic fibrosis severity ISO RGD:735934 D RGD:9068941 20200609 RGD PMID:3540828|REF_RGD_ID:5130162 12254910 C5 complement C5 gene DOID:2452 thrombophilia treatment ISO RGD:10261 D RGD:9068941 20200609 RGD PMID:15986360|REF_RGD_ID:11040779 12254910 C5 complement C5 gene DOID:2841 asthma ISO RGD:10261 D RGD:9068941 20200609 RGD PMID:20802484|REF_RGD_ID:5129681 12254910 C5 complement C5 gene DOID:2841 asthma ISO RGD:10261 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:10973279|REF_RGD_ID:5130158 12254910 C5 complement C5 gene DOID:2841 asthma ISO RGD:2237 D RGD:9068941 20200609 RGD PMID:11591795|REF_RGD_ID:1600651 12254910 C5 complement C5 gene DOID:2841 asthma ISO RGD:735934 D RGD:9068941 20200609 RGD PMID:15278436|REF_RGD_ID:5129512 12254910 C5 complement C5 gene DOID:2841 asthma severity ISO RGD:735934 D RGD:9068941 20200609 RGD PMID:20143644|REF_RGD_ID:5129706 12254910 C5 complement C5 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:735934 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:20500690|REF_RGD_ID:5129705 12254910 C5 complement C5 gene DOID:4724 brain edema ISO RGD:2237 D RGD:9068941 20200609 RGD associated with Cerebral Hemorrhage PMID:11136932|REF_RGD_ID:1600655 12254910 C5 complement C5 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:735934 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNPs: :rs17611, rs2300929 (human) PMID:15995705|REF_RGD_ID:1600592 12254910 C5 complement C5 gene DOID:552 pneumonia ISO RGD:10261 D RGD:9068941 20200609 RGD associated with Respiratory Syncytial Virus Infections PMID:17079327|REF_RGD_ID:5129688 12254910 C5 complement C5 gene DOID:552 pneumonia ISO RGD:735934 D RGD:9068941 20200609 RGD PMID:3631740|REF_RGD_ID:5130161 12254910 C5 complement C5 gene DOID:612 primary immunodeficiency disease ISO RGD:735934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7730648 12254910 C5 complement C5 gene DOID:630 genetic disease ISO RGD:735934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12254910 C5 complement C5 gene DOID:8158 complement component 5 deficiency ISO RGD:735934 D RGD:7240710 20180130 OMIM 12254910 C5 complement C5 gene DOID:8158 complement component 5 deficiency ISO RGD:735934 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Complement component 5 deficiency PMID:15778377|PMID:16199547|PMID:17576681|PMID:19414197|PMID:22668955|PMID:23371790|PMID:24033266|PMID:24521109|PMID:25534848|PMID:25741868|PMID:27026170|PMID:28492532|PMID:7730648|PMID:9536098 12254910 C5 complement C5 gene DOID:8283 peritonitis ISO RGD:735934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19284563|PMID:19346296 12254910 C5 complement C5 gene DOID:850 lung disease ISO RGD:10261 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:3985125|REF_RGD_ID:5130154 12254910 C5 complement C5 gene DOID:850 lung disease ISO RGD:10261 D RGD:9068941 20200609 RGD Acute Lung Injury associated with Pancreatitis, Acute Necrotizing PMID:11292607|REF_RGD_ID:5130168 12254910 C5 complement C5 gene DOID:874 bacterial pneumonia ISO RGD:10261 D RGD:9068941 20200609 RGD PMID:17975174|REF_RGD_ID:5129707 12254910 C5 complement C5 gene DOID:9001044 Choroidal Neovascularization ISO RGD:10261 D RGD:9068941 20200609 RGD PMID:16849499|REF_RGD_ID:7411733 12254910 C5 complement C5 gene DOID:9002106 Pneumococcal Pneumonia severity ISO RGD:10261 D RGD:9068941 20200609 RGD PMID:7814608|REF_RGD_ID:5130159 12254910 C5 complement C5 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2237 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:25662584|REF_RGD_ID:11040807 12254910 C5 complement C5 gene DOID:9002457 Experimental Arthritis ISO RGD:10261 D RGD:9068941 20200609 RGD PMID:20975959|REF_RGD_ID:5130175 12254910 C5 complement C5 gene DOID:9002457 Experimental Arthritis ISO RGD:2237 D RGD:9068941 20200609 RGD PMID:12355496|REF_RGD_ID:1600637 12254910 C5 complement C5 gene DOID:9004009 Reperfusion Injury ISO RGD:2237 D RGD:9068941 20200609 RGD PMID:15158333|REF_RGD_ID:1600597 12254910 C5 complement C5 gene DOID:9004484 Sepsis ISO RGD:2237 D RGD:9068941 20200609 RGD PMID:14688199|REF_RGD_ID:1600599 12254910 C5 complement C5 gene DOID:9004484 Sepsis ISO RGD:2237 D RGD:9068941 20200609 RGD protein:increased activation:plasma PMID:18648551|REF_RGD_ID:5130170 12254910 C5 complement C5 gene DOID:9005724 Fungal Lung Diseases ISO RGD:10261 D RGD:9068941 20200609 RGD PMID:2612053|REF_RGD_ID:5130160 12254910 C5 complement C5 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2237 D RGD:9068941 20200609 RGD PMID:9631876|REF_RGD_ID:1600666 12254910 C5 complement C5 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2237 D RGD:9068941 20200609 RGD PMID:23067403|REF_RGD_ID:7411626 12254954 COQ3 coenzyme Q3, methyltransferase gene DOID:630 genetic disease ISO RGD:732708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254965 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:0080070 mucolipidosis II alpha/beta ISO RGD:1603959 D RGD:7240710 20180130 OMIM 12254965 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:0080070 mucolipidosis II alpha/beta ISO RGD:1603959 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type II PMID:15633164|PMID:16116615|PMID:16199547|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17034777|PMID:17576681|PMID:18190596|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20147709|PMID:20301728|PMID:20301730|PMID:20886637|PMID:20944643|PMID:21416587|PMID:21549105|PMID:22495880|PMID:23192343|PMID:23227064|PMID:23566849|PMID:23773965|PMID:23926388|PMID:24033266|PMID:24045841|PMID:24060719|PMID:24375680|PMID:24550498|PMID:24767253|PMID:24798265|PMID:24807205|PMID:25107912|PMID:25473036|PMID:25505245|PMID:25525159|PMID:25741868|PMID:25788519|PMID:26130485|PMID:26274329|PMID:26633542|PMID:27180337|PMID:27239697|PMID:27662472|PMID:27710913|PMID:28095893|PMID:28396763|PMID:28492532|PMID:28649523|PMID:28918368|PMID:29140481|PMID:29704188|PMID:29872134|PMID:29966168|PMID:30105123|PMID:30208878|PMID:30882951|PMID:31003007|PMID:31130284|PMID:31319225|PMID:31405983|PMID:31579991|PMID:31603145|PMID:31795562|PMID:31934135|PMID:32014045|PMID:32651481|PMID:32746448|PMID:32860008|PMID:34008892|PMID:9536098 12254965 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:0080071 mucolipidosis III alpha/beta ISO RGD:1603959 D RGD:7240710 20180130 OMIM 12254965 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:0080071 mucolipidosis III alpha/beta ISO RGD:1603959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucolipidosis, Type III Alpha/Beta | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy PMID:15633164|PMID:16094673|PMID:16116615|PMID:16199547|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17576681|PMID:18190596|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20147709|PMID:20301728|PMID:20886637|PMID:20944643|PMID:21416587|PMID:21549105|PMID:23192343|PMID:23227064|PMID:23566849|PMID:23926388|PMID:24045841|PMID:24375680|PMID:24550498|PMID:24767253|PMID:25107912|PMID:25505245|PMID:25525159|PMID:25741868|PMID:25788519|PMID:26130485|PMID:26633542|PMID:26749367|PMID:27180337|PMID:27662472|PMID:27710913|PMID:28095893|PMID:28492532|PMID:28649523|PMID:28918368|PMID:29704188|PMID:29872134|PMID:30208878|PMID:30882951|PMID:31579991|PMID:31934135|PMID:9536098 12254965 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:0080488 mucolipidosis ISO RGD:1603959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucolipidosis PMID:15633164|PMID:16116615|PMID:16199547|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17576681|PMID:19197337|PMID:19617216|PMID:19634183|PMID:20301728|PMID:21416587|PMID:21549105|PMID:22495880|PMID:22570975|PMID:23227064|PMID:23566849|PMID:23773965|PMID:23926388|PMID:24033266|PMID:24045841|PMID:24375680|PMID:24798265|PMID:25107912|PMID:25505245|PMID:25525159|PMID:25741868|PMID:25788519|PMID:27662472|PMID:28095893|PMID:28396763|PMID:28492532|PMID:29704188|PMID:29872134|PMID:30105123|PMID:30208878|PMID:30882951|PMID:31130284|PMID:31579991|PMID:31934135|PMID:32651481|PMID:9536098 12254965 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1603959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:16465621|PMID:17576681|PMID:19617216|PMID:19938078|PMID:20301728|PMID:23192343|PMID:24045841|PMID:24550498|PMID:25107912|PMID:25505245|PMID:25741868|PMID:28492532|PMID:34008892|PMID:9536098 12254965 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:14415 Legg-Calve-Perthes disease ISO RGD:1603959 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Legg-Calve-Perthes disease PMID:19617216|PMID:20301728|PMID:23566849|PMID:25505245|PMID:25741868|PMID:25788519|PMID:28492532 12254965 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:3343 glycoproteinosis ISO RGD:1603959 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy PMID:15633164|PMID:16094673|PMID:16116615|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17576681|PMID:18190596|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20147709|PMID:20301728|PMID:20886637|PMID:20944643|PMID:21416587|PMID:21549105|PMID:23192343|PMID:23566849|PMID:23926388|PMID:24045841|PMID:24375680|PMID:24550498|PMID:24767253|PMID:25107912|PMID:25505245|PMID:25525159|PMID:25741868|PMID:25788519|PMID:26130485|PMID:26749367|PMID:27180337|PMID:27662472|PMID:27710913|PMID:28095893|PMID:28492532|PMID:28649523|PMID:29704188|PMID:29872134|PMID:30208878|PMID:30882951|PMID:31579991|PMID:31934135|PMID:9536098 12254965 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:3343 glycoproteinosis ISO RGD:1603959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy PMID:15633164|PMID:16094673|PMID:16116615|PMID:16199547|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17576681|PMID:18190596|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20147709|PMID:20301728|PMID:20886637|PMID:20944643|PMID:21416587|PMID:21549105|PMID:23192343|PMID:23227064|PMID:23566849|PMID:23926388|PMID:24045841|PMID:24375680|PMID:24550498|PMID:24767253|PMID:25107912|PMID:25505245|PMID:25525159|PMID:25741868|PMID:25788519|PMID:26130485|PMID:26633542|PMID:26749367|PMID:27180337|PMID:27662472|PMID:27710913|PMID:28095893|PMID:28492532|PMID:28649523|PMID:28918368|PMID:29704188|PMID:29872134|PMID:30208878|PMID:30882951|PMID:31579991|PMID:31934135|PMID:9536098 12254965 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:630 genetic disease ISO RGD:1603959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16465621|PMID:17576681|PMID:19617216|PMID:25107912|PMID:25741868|PMID:26130485|PMID:28492532|PMID:30882951|PMID:9536098 12254965 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:9004041 Mucolipidosis III Alpha Beta, Atypical ISO RGD:1603959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucolipidosis III alpha/beta, atypical PMID:15633164|PMID:17576681|PMID:28492532|PMID:9536098 12254992 CFL1 cofilin 1 gene DOID:0050562 West syndrome ISO RGD:69285 D RGD:9068941 20200609 RGD protein:decreased expression:brain (rat) PMID:24994451|REF_RGD_ID:11570411 12254992 CFL1 cofilin 1 gene DOID:0050731 vitamin B12 deficiency ISO RGD:69285 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:25982389|REF_RGD_ID:11352764 12254992 CFL1 cofilin 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12254992 CFL1 cofilin 1 gene DOID:0080016 spina bifida ISO RGD:732970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17352815 12254992 CFL1 cofilin 1 gene DOID:1059 intellectual disability ISO RGD:732970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12254992 CFL1 cofilin 1 gene DOID:11457 brain compression treatment ISO RGD:732970 D RGD:9068941 20200609 RGD PMID:25708984|REF_RGD_ID:12738361 12254992 CFL1 cofilin 1 gene DOID:1184 nephrotic syndrome treatment ISO RGD:69285 D RGD:9068941 20200609 RGD PMID:24737737|REF_RGD_ID:11570418 12254992 CFL1 cofilin 1 gene DOID:1824 status epilepticus treatment ISO RGD:69285 D RGD:9068941 20200609 RGD PMID:27642592|REF_RGD_ID:11568691 12254992 CFL1 cofilin 1 gene DOID:1875 impotence ISO RGD:69285 D RGD:9068941 20200609 RGD protein:increased phosphorylation:corpus cavernosum penis (rat) PMID:25923835|REF_RGD_ID:11568706 12254992 CFL1 cofilin 1 gene DOID:1875 impotence treatment ISO RGD:69285 D RGD:9068941 20200609 RGD PMID:25444982|REF_RGD_ID:11570410 12254992 CFL1 cofilin 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12254992 CFL1 cofilin 1 gene DOID:2746 glycogen storage disease V ISO RGD:732970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12254992 CFL1 cofilin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12254992 CFL1 cofilin 1 gene DOID:4948 gallbladder carcinoma severity ISO RGD:732970 D RGD:9068941 20200609 RGD Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human) PMID:23320827|REF_RGD_ID:11571623 12254992 CFL1 cofilin 1 gene DOID:5199 ureteral obstruction ISO RGD:69285 D RGD:9068941 20200609 RGD protein:increased expression:inner medulla of kidney (rat) PMID:24761003|REF_RGD_ID:11570413 12254992 CFL1 cofilin 1 gene DOID:5844 myocardial infarction treatment ISO RGD:69285 D RGD:9068941 20200609 RGD PMID:24292258|REF_RGD_ID:11570534 12254992 CFL1 cofilin 1 gene DOID:630 genetic disease ISO RGD:732970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12254992 CFL1 cofilin 1 gene DOID:767 muscular atrophy ISO RGD:69285 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:gastrocnemius (rat) PMID:24711688|REF_RGD_ID:11570530 12254992 CFL1 cofilin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 12254992 CFL1 cofilin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69285 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased phosphorylation:renal glomerulus (rat) PMID:24726496|REF_RGD_ID:11570419 12254992 CFL1 cofilin 1 gene DOID:9002211 Hyperalgesia ISO RGD:69285 D RGD:9068941 20200609 RGD protein:increased phosphorylation:dorsal root ganglion (rat) PMID:24962708|REF_RGD_ID:11570412 12254992 CFL1 cofilin 1 gene DOID:9003234 Hypertensive Nephropathy ISO RGD:69285 D RGD:9068941 20200609 RGD protein:increased phosphorylation:kidney (rat) PMID:26450610|REF_RGD_ID:11520804 12254992 CFL1 cofilin 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:732970 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12254992 CFL1 cofilin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 12254992 CFL1 cofilin 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:69285 D RGD:9068941 20200609 RGD protein:altered expression:striatum (rat) PMID:27018876|REF_RGD_ID:11568696 12254992 CFL1 cofilin 1 gene DOID:9005968 Neuralgia treatment ISO RGD:69285 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:27216618|REF_RGD_ID:11568694 12254992 CFL1 cofilin 1 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:69285 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:27576917|REF_RGD_ID:11568692 12254992 CFL1 cofilin 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:732970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 12254992 CFL1 cofilin 1 gene DOID:9008091 Optic Nerve Injuries treatment ISO RGD:69285 D RGD:9068941 20200609 RGD PMID:27443501|REF_RGD_ID:11568693 12254992 CFL1 cofilin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 12255000 MTIF3 mitochondrial translational initiation factor 3 gene DOID:630 genetic disease ISO RGD:1604201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255029 XPO4 exportin 4 gene DOID:0110253 cataract 14 multiple types ISO RGD:1323777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 12255029 XPO4 exportin 4 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1323777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:28492532 12255029 XPO4 exportin 4 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1323777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:28492532 12255029 XPO4 exportin 4 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1323777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:28492532 12255029 XPO4 exportin 4 gene DOID:14693 Clouston syndrome ISO RGD:1323777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia PMID:28492532 12255029 XPO4 exportin 4 gene DOID:2121 ectodermal dysplasia ISO RGD:1323777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 12255029 XPO4 exportin 4 gene DOID:630 genetic disease ISO RGD:1323777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255073 MVP major vault protein gene DOID:0060019 coronin-1A deficiency ISO RGD:732476 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12255073 MVP major vault protein gene DOID:0060041 autism spectrum disorder ISO RGD:732476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12255073 MVP major vault protein gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:732476 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12255073 MVP major vault protein gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:732476 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12255073 MVP major vault protein gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:732476 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12255073 MVP major vault protein gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:732476 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12255073 MVP major vault protein gene DOID:12849 autistic disorder ISO RGD:732476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12255073 MVP major vault protein gene DOID:1882 atrial heart septal defect ISO RGD:732476 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12255073 MVP major vault protein gene DOID:5419 schizophrenia ISO RGD:732476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12255073 MVP major vault protein gene DOID:630 genetic disease ISO RGD:732476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12255073 MVP major vault protein gene DOID:8398 osteoarthritis ISO RGD:732476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12255073 MVP major vault protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12255073 MVP major vault protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12255073 MVP major vault protein gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:732476 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12255073 MVP major vault protein gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:732476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12255073 MVP major vault protein gene DOID:9007283 Familial Infantile Convulsions and Paroxysmal Choreoathetosis ISO RGD:732476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial PMID:25741868 12255099 NID2 nidogen 2 gene DOID:630 genetic disease ISO RGD:1323271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255099 NID2 nidogen 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12255129 SYCE1 synaptonemal complex central element protein 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1352832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12255129 SYCE1 synaptonemal complex central element protein 1 gene DOID:0070172 spermatogenic failure 15 ISO RGD:1352832 D RGD:7240710 20190315 OMIM 12255129 SYCE1 synaptonemal complex central element protein 1 gene DOID:0070172 spermatogenic failure 15 ISO RGD:1352832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 15 PMID:25899990 12255129 SYCE1 synaptonemal complex central element protein 1 gene DOID:0080869 primary ovarian insufficiency 12 ISO RGD:1352832 D RGD:7240710 20190315 OMIM 12255129 SYCE1 synaptonemal complex central element protein 1 gene DOID:0080869 primary ovarian insufficiency 12 ISO RGD:1352832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 12 PMID:25062452|PMID:32917591 12255129 SYCE1 synaptonemal complex central element protein 1 gene DOID:13938 amenorrhea ISO RGD:1352832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12255129 SYCE1 synaptonemal complex central element protein 1 gene DOID:630 genetic disease ISO RGD:1352832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255150 XPA XPA, DNA damage recognition and repair factor gene DOID:0050427 xeroderma pigmentosum ISO RGD:1318735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:10447254|PMID:10862089|PMID:12509227|PMID:1352672|PMID:1372102|PMID:1372103|PMID:15214909|PMID:15661657|PMID:1601884|PMID:16491090|PMID:16792756|PMID:16905156|PMID:1702221|PMID:17576681|PMID:20054342|PMID:20199544|PMID:20534089|PMID:20574439|PMID:21148310|PMID:22081045|PMID:2234061|PMID:23194742|PMID:24135642|PMID:24728327|PMID:24757057|PMID:25256075|PMID:25525159|PMID:25566891|PMID:25741868|PMID:26659639|PMID:26743599|PMID:26884178|PMID:27413738|PMID:27607234|PMID:27982466|PMID:28492532|PMID:29208038|PMID:30077970|PMID:31478152|PMID:7577588|PMID:7876263|PMID:8105686|PMID:8541864|PMID:8765158|PMID:8825598|PMID:9536098|PMID:9671271 12255150 XPA XPA, DNA damage recognition and repair factor gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1318735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 12255150 XPA XPA, DNA damage recognition and repair factor gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1318735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 12255150 XPA XPA, DNA damage recognition and repair factor gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1318735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 12255150 XPA XPA, DNA damage recognition and repair factor gene DOID:0110843 xeroderma pigmentosum group A ISO RGD:1318735 D RGD:7240710 20180418 OMIM 12255150 XPA XPA, DNA damage recognition and repair factor gene DOID:0110843 xeroderma pigmentosum group A ISO RGD:1318735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum group A PMID:10447254|PMID:10862089|PMID:12509227|PMID:1339397|PMID:1352672|PMID:1372102|PMID:1372103|PMID:15214909|PMID:15661657|PMID:1601884|PMID:16098033|PMID:16199547|PMID:16491090|PMID:16905156|PMID:1702221|PMID:17576681|PMID:18414213|PMID:20054342|PMID:20199544|PMID:20534089|PMID:20574439|PMID:22081045|PMID:22190868|PMID:2234061|PMID:23194742|PMID:24063568|PMID:24135642|PMID:24704021|PMID:24728327|PMID:24757057|PMID:25256075|PMID:25326635|PMID:25525159|PMID:25566891|PMID:25741868|PMID:26743599|PMID:26884178|PMID:27413738|PMID:27607234|PMID:27982466|PMID:28492532|PMID:29208038|PMID:30077970|PMID:31478152|PMID:34234304|PMID:35197637|PMID:7577588|PMID:7876263|PMID:8105686|PMID:8541864|PMID:8765158|PMID:8825598|PMID:9536098|PMID:9671271|PMID:9753735 12255150 XPA XPA, DNA damage recognition and repair factor gene DOID:1059 intellectual disability ISO RGD:1318735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12255150 XPA XPA, DNA damage recognition and repair factor gene DOID:12712 nephronophthisis ISO RGD:1318735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 12255150 XPA XPA, DNA damage recognition and repair factor gene DOID:14004 thoracic aortic aneurysm ISO RGD:1318735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 12255150 XPA XPA, DNA damage recognition and repair factor gene DOID:2394 ovarian cancer ISO RGD:1318735 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 12255150 XPA XPA, DNA damage recognition and repair factor gene DOID:2513 basal cell carcinoma ISO RGD:1318735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17687452 12255150 XPA XPA, DNA damage recognition and repair factor gene DOID:2962 Cockayne syndrome ISO RGD:1316157 D RGD:9068941 20200609 RGD PMID:19114557|REF_RGD_ID:10401087 12255150 XPA XPA, DNA damage recognition and repair factor gene DOID:630 genetic disease ISO RGD:1318735 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16792756|PMID:25741868|PMID:26659639|PMID:26743599|PMID:26884178|PMID:28492532 12255150 XPA XPA, DNA damage recognition and repair factor gene DOID:9001793 Generalized Epilepsy ISO RGD:1318735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 12255150 XPA XPA, DNA damage recognition and repair factor gene DOID:9002245 Intestinal Neoplasms ISO RGD:1318735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16962818 12255150 XPA XPA, DNA damage recognition and repair factor gene DOID:9004464 Skin Neoplasms ISO RGD:1318735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10755388|PMID:16962818 12255150 XPA XPA, DNA damage recognition and repair factor gene DOID:9006269 Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone ISO RGD:1318735 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dwarfism, low-birth-weight type, with unresponsiveness to growth hormone PMID:25741868|PMID:28492532|PMID:31478152 12255150 XPA XPA, DNA damage recognition and repair factor gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1318735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216194|PMID:9885240 12255150 XPA XPA, DNA damage recognition and repair factor gene DOID:9007188 Liver Neoplasms ISO RGD:1318735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24084170 12255166 TLR3 toll like receptor 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1343581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25255310 12255166 TLR3 toll like receptor 3 gene DOID:0060180 colitis ISO RGD:735171 D RGD:9068941 20200609 RGD mRNA:increased expression:large intestine mucosa (rat) PMID:20011045|REF_RGD_ID:5128708 12255166 TLR3 toll like receptor 3 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1343581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:26513235|PMID:28368532|PMID:28492532 12255166 TLR3 toll like receptor 3 gene DOID:10140 dry eye syndrome ISO RGD:1553513 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cornea,conjunctiva: PMID:23372055|REF_RGD_ID:8552916 12255166 TLR3 toll like receptor 3 gene DOID:10591 pre-eclampsia ISO RGD:735171 D RGD:9068941 20200609 RGD protein:increased expression:placenta (rat) PMID:19779466|REF_RGD_ID:5128769 12255166 TLR3 toll like receptor 3 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1343581 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell: PMID:23946637|REF_RGD_ID:8552827 12255166 TLR3 toll like receptor 3 gene DOID:11166 papillomavirus infectious disease resistance ISO RGD:1343581 D RGD:9068941 20200609 RGD mRNA:increased expression:cervix epithelium (human) PMID:20473890|REF_RGD_ID:5129102 12255166 TLR3 toll like receptor 3 gene DOID:11168 anogenital venereal wart ISO RGD:1343581 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 12255166 TLR3 toll like receptor 3 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1553513 D RGD:9068941 20200609 RGD PMID:18849495|REF_RGD_ID:5129134 12255166 TLR3 toll like receptor 3 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1553513 D RGD:9068941 20200609 RGD PMID:16424225|REF_RGD_ID:5129224 12255166 TLR3 toll like receptor 3 gene DOID:12849 autistic disorder ISO RGD:1343581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12255166 TLR3 toll like receptor 3 gene DOID:13241 Behcet's disease ISO RGD:1343581 D RGD:9068941 20200609 RGD protein,mRNA:increased expression:peripheral blood mononuclear cell PMID:23908180|REF_RGD_ID:8552883 12255166 TLR3 toll like receptor 3 gene DOID:1520 colon carcinoma ISO RGD:1343581 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:23467704|REF_RGD_ID:21079438 12255166 TLR3 toll like receptor 3 gene DOID:1883 hepatitis C ISO RGD:1343581 D RGD:9068941 20200609 RGD associated with glomerulonephritis;mRNA:increased expression:liver: PMID:21623661|REF_RGD_ID:7175316 12255166 TLR3 toll like receptor 3 gene DOID:1883 hepatitis C disease_progression ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:SNPs: :rs3775290,rs3775291,rs5743312 (human) PMID:29947302|REF_RGD_ID:21079437 12255166 TLR3 toll like receptor 3 gene DOID:1883 hepatitis C severity ISO RGD:1343581 D RGD:9068941 20200609 RGD associated with liver transplant;DNP:SNP:cds:p.Leu412Phe(human) PMID:27101936|REF_RGD_ID:21079429 12255166 TLR3 toll like receptor 3 gene DOID:1883 hepatitis C susceptibility ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.Leu412Phe(human) PMID:23240626|REF_RGD_ID:21079422 12255166 TLR3 toll like receptor 3 gene DOID:2043 hepatitis B disease_progression ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: rs3775291,rs5743305 (human) PMID:30143709|REF_RGD_ID:21079424 12255166 TLR3 toll like receptor 3 gene DOID:2043 hepatitis B susceptibility ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: rs1879026(human) PMID:22825813|REF_RGD_ID:21079431 12255166 TLR3 toll like receptor 3 gene DOID:2365 West Nile encephalitis ISO RGD:1553513 D RGD:9068941 20210423 RGD mRNA:increased expression:brain PMID:24173226|REF_RGD_ID:126781836 12255166 TLR3 toll like receptor 3 gene DOID:2841 asthma ISO RGD:1343581 D RGD:9068941 20200609 RGD Asthma, Virus-Induced; mRNA:increased expression:sputum (human) PMID:21129050|REF_RGD_ID:5129226 12255166 TLR3 toll like receptor 3 gene DOID:2841 asthma ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:snp:cds:p.L412F (human) PMID:17434873|REF_RGD_ID:5129478 12255166 TLR3 toll like receptor 3 gene DOID:2841 asthma ISO RGD:1553513 D RGD:9068941 20200609 RGD PMID:17610940|REF_RGD_ID:5129475 12255166 TLR3 toll like receptor 3 gene DOID:2841 asthma ISO RGD:735171 D RGD:9068941 20200609 RGD PMID:21364926|REF_RGD_ID:5128500 12255166 TLR3 toll like receptor 3 gene DOID:2841 asthma no_association ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:snp:cds:p.L412F (human) PMID:14987294|REF_RGD_ID:5129493 12255166 TLR3 toll like receptor 3 gene DOID:3492 mixed connective tissue disease ISO RGD:1553513 D RGD:9068941 20200609 RGD PMID:16453294|REF_RGD_ID:5129221 12255166 TLR3 toll like receptor 3 gene DOID:4724 brain edema ISO RGD:1343581 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cerebral edema PMID:25741868 12255166 TLR3 toll like receptor 3 gene DOID:4989 pancreatitis ISO RGD:735171 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord dorsal horn (rat) PMID:21342497|REF_RGD_ID:5128695 12255166 TLR3 toll like receptor 3 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:snp: :rs3775290(human) PMID:26024592|REF_RGD_ID:21079416 12255166 TLR3 toll like receptor 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1343581 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:17872438|PMID:19625408|PMID:20472559|PMID:20855885|PMID:21911422|PMID:22174453|PMID:24033266|PMID:25339207|PMID:25741868|PMID:26193622|PMID:28046022|PMID:28492532|PMID:29217828|PMID:29305044|PMID:31217193 12255166 TLR3 toll like receptor 3 gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:1343581 D RGD:7240710 20230517 OMIM 12255166 TLR3 toll like receptor 3 gene DOID:5614 eye disease ISO RGD:1343581 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:nasal cavity mucosa: PMID:16146574|REF_RGD_ID:8552913 12255166 TLR3 toll like receptor 3 gene DOID:574 peripheral nervous system disease ISO RGD:735171 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord dorsal horn (rat) PMID:20638911|REF_RGD_ID:5129232 12255166 TLR3 toll like receptor 3 gene DOID:630 genetic disease ISO RGD:1343581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12255166 TLR3 toll like receptor 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1343581 D RGD:9068941 20200609 RGD PMID:23197495|REF_RGD_ID:21079421 12255166 TLR3 toll like receptor 3 gene DOID:7188 autoimmune thyroiditis ISO RGD:1343581 D RGD:9068941 20200609 RGD protein:increased expression:thyroid gland (human) PMID:15661832|REF_RGD_ID:5128798 12255166 TLR3 toll like receptor 3 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735171 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum (rat) PMID:19608731|REF_RGD_ID:5128779 12255166 TLR3 toll like receptor 3 gene DOID:8729 milker's nodule severity ISO RGD:1553513 D RGD:9068941 20200609 RGD PMID:18097050|REF_RGD_ID:5129216 12255166 TLR3 toll like receptor 3 gene DOID:9000238 Acute-On-Chronic Liver Failure susceptibility ISO RGD:1343581 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic; DNA:SNP: :1234C>T (human) PMID:23076446|REF_RGD_ID:21079425 12255166 TLR3 toll like receptor 3 gene DOID:9000972 Fever ISO RGD:1343581 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:28726298 12255166 TLR3 toll like receptor 3 gene DOID:9001004 Chronic Periodontitis severity ISO RGD:1343581 D RGD:9068941 20200609 RGD protein:increased expression:gingiva: PMID:21848608|REF_RGD_ID:7794852 12255166 TLR3 toll like receptor 3 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:1553513 D RGD:9068941 20200609 RGD PMID:23023014|PMID:30870678|REF_RGD_ID:21079426|REF_RGD_ID:21079436 12255166 TLR3 toll like receptor 3 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1343581 D RGD:9068941 20200609 RGD mRNA:decreased expression:olfactory epithelial cell (human) PMID:20935192|REF_RGD_ID:5129228 12255166 TLR3 toll like receptor 3 gene DOID:9001488 Human Influenza ISO RGD:1553513 D RGD:9068941 20200609 RGD PMID:18654661|REF_RGD_ID:5129136 12255166 TLR3 toll like receptor 3 gene DOID:9001488 Human Influenza ISO RGD:1553513 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:16789835|REF_RGD_ID:5129219 12255166 TLR3 toll like receptor 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1553513 D RGD:9068941 20200609 RGD PMID:27178735|REF_RGD_ID:21079415 12255166 TLR3 toll like receptor 3 gene DOID:9001981 Weight Loss ISO RGD:1343581 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:28726298 12255166 TLR3 toll like receptor 3 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1553513 D RGD:9068941 20200609 RGD PMID:19009529|REF_RGD_ID:5129133 12255166 TLR3 toll like receptor 3 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1343581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12255166 TLR3 toll like receptor 3 gene DOID:9004009 Reperfusion Injury ISO RGD:735171 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:21355876|REF_RGD_ID:5128693 12255166 TLR3 toll like receptor 3 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:SNP: :rs13126816 (human) PMID:23220997|REF_RGD_ID:21079430 12255166 TLR3 toll like receptor 3 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:SNP: :rs3775290(human) PMID:29860675|REF_RGD_ID:21079428 12255166 TLR3 toll like receptor 3 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1343581 D RGD:9068941 20200609 RGD PMID:28480979|REF_RGD_ID:21079435 12255166 TLR3 toll like receptor 3 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:SNP: :rs3775290(human) PMID:30321082|REF_RGD_ID:21079427 12255166 TLR3 toll like receptor 3 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.Leu412Phe(human) PMID:23240626|REF_RGD_ID:21079422 12255166 TLR3 toll like receptor 3 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1343581 D RGD:9068941 20200609 RGD treatment:peginterferon plus ribavirin. PMID:19674283|REF_RGD_ID:21079423 12255166 TLR3 toll like receptor 3 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:1343581 D RGD:9068941 20200609 RGD protein:decreased expression:bone marrow, blood, eosinophil (human) PMID:19752565|REF_RGD_ID:5129130 12255166 TLR3 toll like receptor 3 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :1234C>T (human) PMID:23076446|REF_RGD_ID:21079425 12255166 TLR3 toll like receptor 3 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:snp: :rs3775290(human) PMID:26024592|REF_RGD_ID:21079416 12255166 TLR3 toll like receptor 3 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1343581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis 1 | ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:17434873|PMID:17576681|PMID:17872438|PMID:19625408|PMID:19763152|PMID:20307669|PMID:20472559|PMID:20855885|PMID:21911422|PMID:22174453|PMID:22406018|PMID:24033266|PMID:25118264|PMID:25339207|PMID:25629076|PMID:25741868|PMID:26193622|PMID:26513235|PMID:27872624|PMID:28046022|PMID:28368532|PMID:28492532|PMID:29217828|PMID:29305044|PMID:31217193|PMID:31268141|PMID:32936395|PMID:9536098 12255166 TLR3 toll like receptor 3 gene DOID:9009130 Immunodeficiency 83 ISO RGD:1343581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 83, susceptibility to viral infections PMID:17872438|PMID:19625408|PMID:20472559|PMID:20855885|PMID:21911422|PMID:22174453|PMID:24033266|PMID:25339207|PMID:25741868|PMID:26193622|PMID:26513235|PMID:28046022|PMID:28368532|PMID:28492532|PMID:29217828|PMID:29305044|PMID:31217193|PMID:31268141|PMID:32936395 12255166 TLR3 toll like receptor 3 gene DOID:9009130 Immunodeficiency 83 susceptibility ISO RGD:1343581 D RGD:7240710 20230517 OMIM 12255166 TLR3 toll like receptor 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:snps:intron:g.2593C>T rs5743313, g.2642C>A rs5743315, g.2690A>G (human) PMID:16029432|REF_RGD_ID:5129476 12255166 Tlr3 toll-like receptor 3 gene DOID:9002457 Experimental Arthritis ISO RGD:735171 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spleen (rat) PMID:20500834|REF_RGD_ID:5128706 12255186 WNT2B Wnt family member 2B gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:733303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 12255186 WNT2B Wnt family member 2B gene DOID:1911 endodermal sinus tumor ISO RGD:733303 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor PMID:16822086|REF_RGD_ID:2298800 12255186 WNT2B Wnt family member 2B gene DOID:3307 teratoma ISO RGD:733303 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor PMID:16822086|REF_RGD_ID:2298800 12255186 WNT2B Wnt family member 2B gene DOID:630 genetic disease ISO RGD:733303 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12255186 WNT2B Wnt family member 2B gene DOID:9000351 Diarrhea 9 ISO RGD:733303 D RGD:7240710 20190315 OMIM 12255186 WNT2B Wnt family member 2B gene DOID:9000351 Diarrhea 9 ISO RGD:733303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diarrhea 9 PMID:29909964 12255186 WNT2B Wnt family member 2B gene DOID:9001276 Failure to Thrive ISO RGD:733303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:29909964 12255186 WNT2B Wnt family member 2B gene DOID:9007096 Stroke ISO RGD:733303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 12255198 PACRG parkin coregulated gene DOID:0060368 Parkinson's disease 2 ISO RGD:1352616 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 | ClinVar Annotator: match by term: Young-onset Parkinson disease PMID:12116199|PMID:16328510|PMID:19162522|PMID:20399249|PMID:21993715|PMID:25741868|PMID:25833766|PMID:26467025|PMID:26683220|PMID:28492532|PMID:33045815|PMID:33150996|PMID:33166806 12255198 PACRG parkin coregulated gene DOID:0080855 Parkinsonism ISO RGD:1352616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Juvenile 12255198 PACRG parkin coregulated gene DOID:3910 lung adenocarcinoma ISO RGD:1352616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:12719539 12255198 PACRG parkin coregulated gene DOID:5419 schizophrenia ISO RGD:1352616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12255198 PACRG parkin coregulated gene DOID:630 genetic disease ISO RGD:1352616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255198 PACRG parkin coregulated gene DOID:9002762 Ovarian Neoplasms ISO RGD:1352616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:25741868 12255207 TRPM6 transient receptor potential cation channel subfamily M member 6 gene DOID:0050572 cone-rod dystrophy ISO RGD:1320558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:28041643|PMID:32581362 12255207 TRPM6 transient receptor potential cation channel subfamily M member 6 gene DOID:0060883 intestinal hypomagnesemia 1 ISO RGD:1320558 D RGD:7240710 20180130 OMIM 12255207 TRPM6 transient receptor potential cation channel subfamily M member 6 gene DOID:0060883 intestinal hypomagnesemia 1 ISO RGD:1320558 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 PMID:12032568|PMID:12032570|PMID:14976260|PMID:16107578|PMID:23942199|PMID:24030239|PMID:24985022|PMID:25741868|PMID:26813946|PMID:28492532|PMID:33565749|PMID:34906502|PMID:9285786 12255207 TRPM6 transient receptor potential cation channel subfamily M member 6 gene DOID:0080598 Kleefstra syndrome 2 ISO RGD:1320558 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 2 PMID:25741868 12255207 TRPM6 transient receptor potential cation channel subfamily M member 6 gene DOID:630 genetic disease ISO RGD:1320558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33565749 12255207 TRPM6 transient receptor potential cation channel subfamily M member 6 gene DOID:896 metal metabolism disorder ISO RGD:1320558 D RGD:9068941 20200609 RGD hypomagnesemia with secondary hypocalcemia, OMIM:602014 PMID:12032568|REF_RGD_ID:1599669 12255207 TRPM6 transient receptor potential cation channel subfamily M member 6 gene DOID:9008296 Eye Abnormalities ISO RGD:1320558 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643|PMID:32581362 12255265 PLIN3 perilipin 3 gene DOID:630 genetic disease ISO RGD:1343845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255265 PLIN3 perilipin 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12255277 CACTIN cactin, spliceosome C complex subunit gene DOID:630 genetic disease ISO RGD:1344995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255294 KRT80 keratin 80 gene DOID:630 genetic disease ISO RGD:1606454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255307 SLC6A2 solute carrier family 6 member 2 gene DOID:10273 heart conduction disease ISO RGD:731948 D RGD:9068941 20220825 MouseDO 12255307 SLC6A2 solute carrier family 6 member 2 gene DOID:10763 hypertension ISO RGD:731947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533655 12255307 SLC6A2 solute carrier family 6 member 2 gene DOID:10763 hypertension ISO RGD:731947 D RGD:9068941 20200609 RGD DNA:polymorphism:1287G>A PMID:17124432|REF_RGD_ID:1624279 12255307 SLC6A2 solute carrier family 6 member 2 gene DOID:11569 neurocirculatory asthenia ISO RGD:731947 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neurocirculatory asthenia PMID:10684912|PMID:11875370 12255307 SLC6A2 solute carrier family 6 member 2 gene DOID:1596 depressive disorder ISO RGD:621822 D RGD:9068941 20200609 RGD PMID:18800064|REF_RGD_ID:6218960 12255307 SLC6A2 solute carrier family 6 member 2 gene DOID:630 genetic disease ISO RGD:731947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255307 SLC6A2 solute carrier family 6 member 2 gene DOID:9004453 Orthostatic Intolerance ISO RGD:731947 D RGD:7240710 20180130 OMIM 12255307 SLC6A2 solute carrier family 6 member 2 gene DOID:9004453 Orthostatic Intolerance ISO RGD:731947 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SLC6A2-related disorder 12255333 PIGZ phosphatidylinositol glycan anchor biosynthesis class Z gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1602097 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 12255333 PIGZ phosphatidylinositol glycan anchor biosynthesis class Z gene DOID:12849 autistic disorder ISO RGD:1602097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12255333 PIGZ phosphatidylinositol glycan anchor biosynthesis class Z gene DOID:5419 schizophrenia ISO RGD:1602097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12255333 PIGZ phosphatidylinositol glycan anchor biosynthesis class Z gene DOID:630 genetic disease ISO RGD:1602097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255365 YEATS2 YEATS domain containing 2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1347752 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12255365 YEATS2 YEATS domain containing 2 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1347752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12255365 YEATS2 YEATS domain containing 2 gene DOID:0111546 Currarino syndrome ISO RGD:1347752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12255365 YEATS2 YEATS domain containing 2 gene DOID:0111693 familial adult myoclonic epilepsy 4 ISO RGD:1347752 D RGD:7240710 20191225 OMIM 12255365 YEATS2 YEATS domain containing 2 gene DOID:0111693 familial adult myoclonic epilepsy 4 ISO RGD:1347752 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 4 PMID:25741868|PMID:28492532 12255365 YEATS2 YEATS domain containing 2 gene DOID:3007 breast ductal carcinoma ISO RGD:1347752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12255365 YEATS2 YEATS domain containing 2 gene DOID:4905 pancreatic carcinoma ISO RGD:1347752 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34686948 12255365 YEATS2 YEATS domain containing 2 gene DOID:630 genetic disease ISO RGD:1347752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255365 YEATS2 YEATS domain containing 2 gene DOID:9000918 Disease Progression ISO RGD:1347752 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34686948 12255412 BCL2A1 BCL2 related protein A1 gene DOID:0080600 COVID-19 ISO RGD:733985 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12255412 BCL2A1 BCL2 related protein A1 gene DOID:1205 allergic disease ISO RGD:1621639 D RGD:9068941 20200609 RGD PMID:11733571|REF_RGD_ID:734640 12255412 BCL2A1 BCL2 related protein A1 gene DOID:2717 Bloom syndrome ISO RGD:733985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12255412 BCL2A1 BCL2 related protein A1 gene DOID:630 genetic disease ISO RGD:733985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255412 BCL2A1 BCL2 related protein A1 gene DOID:7148 rheumatoid arthritis ISO RGD:733985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 12255412 BCL2A1 BCL2 related protein A1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:733985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17634542 12255412 BCL2A1 BCL2 related protein A1 gene DOID:9008939 Breast Neoplasms ISO RGD:733985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037|PMID:17659439 12255412 BCL2A1 BCL2 related protein A1 gene DOID:9256 colorectal cancer ISO RGD:733985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12255420 ZBTB44 zinc finger and BTB domain containing 44 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12255420 ZBTB44 zinc finger and BTB domain containing 44 gene DOID:5419 schizophrenia ISO RGD:1606019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12255420 ZBTB44 zinc finger and BTB domain containing 44 gene DOID:630 genetic disease ISO RGD:1606019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255420 ZBTB44 zinc finger and BTB domain containing 44 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12255420 ZBTB44 zinc finger and BTB domain containing 44 gene DOID:9007661 Dwarfism ISO RGD:1606019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12255435 LRRC30 leucine rich repeat containing 30 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1343727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12255435 LRRC30 leucine rich repeat containing 30 gene DOID:1059 intellectual disability ISO RGD:1343727 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12255435 LRRC30 leucine rich repeat containing 30 gene DOID:630 genetic disease ISO RGD:1343727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255441 ARNT2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:0050726 tyrosinemia type I ISO RGD:736413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:28492532 12255441 ARNT2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:0060224 atrial fibrillation ISO RGD:736413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12255441 ARNT2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:2717 Bloom syndrome ISO RGD:736413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12255441 ARNT2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 12255441 ARNT2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:630 genetic disease ISO RGD:736413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12255441 ARNT2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:9005676 Webb-Dattani Syndrome ISO RGD:736413 D RGD:7240710 20200226 OMIM 12255441 ARNT2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:9005676 Webb-Dattani Syndrome ISO RGD:736413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Webb-Dattani syndrome PMID:24022475|PMID:25741868|PMID:28492532 12255441 ARNT2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:9256 colorectal cancer ISO RGD:736413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 12255480 AEBP1 AE binding protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1315812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12255480 AEBP1 AE binding protein 1 gene DOID:0080732 Ehlers-Danlos syndrome classic-like 2 ISO RGD:1315812 D RGD:7240710 20190315 OMIM 12255480 AEBP1 AE binding protein 1 gene DOID:0080732 Ehlers-Danlos syndrome classic-like 2 ISO RGD:1315812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic-like, 2 PMID:16199547|PMID:25741868|PMID:27023906|PMID:28492532|PMID:29606302|PMID:30548383 12255480 AEBP1 AE binding protein 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1315812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:25741868|PMID:30759870 12255480 AEBP1 AE binding protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12255480 AEBP1 AE binding protein 1 gene DOID:630 genetic disease ISO RGD:1315812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12255480 AEBP1 AE binding protein 1 gene DOID:9002189 High Myopia ISO RGD:1315812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12255481 CERCAM cerebral endothelial cell adhesion molecule gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312417 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12255481 CERCAM cerebral endothelial cell adhesion molecule gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1312417 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12255481 CERCAM cerebral endothelial cell adhesion molecule gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312417 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12255481 CERCAM cerebral endothelial cell adhesion molecule gene DOID:630 genetic disease ISO RGD:1312417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255506 CD83 CD83 molecule gene DOID:37 skin disease ISO RGD:1320150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12255506 CD83 CD83 molecule gene DOID:630 genetic disease ISO RGD:1320150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255506 CD83 CD83 molecule gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1320150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12255506 CD83 CD83 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:1320150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 12255506 CD83 CD83 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12255506 CD83 CD83 molecule gene DOID:9007964 Arsenic Poisoning ISO RGD:1320150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12255517 LOC610813 transmembrane protein 125 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1604757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12255517 LOC610813 transmembrane protein 125 gene DOID:630 genetic disease ISO RGD:1604757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255534 CIMIP1 ciliary microtubule inner protein 1 gene DOID:630 genetic disease ISO RGD:1342910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255546 CCDC17 coiled-coil domain containing 17 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12255546 CCDC17 coiled-coil domain containing 17 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1603565 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs2275085) T>C (human) PMID:27354594|REF_RGD_ID:152177496 12255546 CCDC17 coiled-coil domain containing 17 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12255546 CCDC17 coiled-coil domain containing 17 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12255546 CCDC17 coiled-coil domain containing 17 gene DOID:630 genetic disease ISO RGD:1603565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255565 DGKA diacylglycerol kinase alpha gene DOID:630 genetic disease ISO RGD:732760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255615 MIR203 microRNA mir-203 gene DOID:5082 liver cirrhosis ISO RGD:1608292 D RGD:9068941 20201015 CTD CTD Direct Evidence: therapeutic PMID:32659284 12255615 MIR203 microRNA mir-203 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1608292 D RGD:9068941 20201015 CTD CTD Direct Evidence: therapeutic PMID:32659284 12255648 SGCE sarcoglycan epsilon gene DOID:0090033 myoclonic dystonia ISO RGD:1352882 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism 12255648 SGCE sarcoglycan epsilon gene DOID:0090034 myoclonic dystonia 11 ISO RGD:1352882 D RGD:7240710 20220629 OMIM 12255648 SGCE sarcoglycan epsilon gene DOID:0090034 myoclonic dystonia 11 ISO RGD:1352882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 11 PMID:10220438|PMID:10716258|PMID:11022010|PMID:11523564|PMID:11528394|PMID:12325078|PMID:12391338|PMID:12391355|PMID:12402271|PMID:12743249|PMID:12821748|PMID:12874409|PMID:15079037|PMID:15389977|PMID:15728306|PMID:16199547|PMID:16227522|PMID:16240355|PMID:17101905|PMID:17296918|PMID:17576681|PMID:17853490|PMID:18175340|PMID:18205193|PMID:18349702|PMID:18355305|PMID:18362280|PMID:19066193|PMID:19117362|PMID:19133653|PMID:19147379|PMID:21796726|PMID:22026499|PMID:22259621|PMID:23365103|PMID:2367709|PMID:23677909|PMID:23748201|PMID:24297365|PMID:24759409|PMID:25401298|PMID:25406829|PMID:25741868|PMID:26046366|PMID:26467025|PMID:27441098|PMID:28155872|PMID:28492532|PMID:29607243|PMID:30849405|PMID:31186545|PMID:32927286|PMID:33200041|PMID:9536098|PMID:9750929 12255648 SGCE sarcoglycan epsilon gene DOID:10534 stomach cancer severity ISO RGD:1352882 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 12255648 SGCE sarcoglycan epsilon gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1352882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:28492532 12255648 SGCE sarcoglycan epsilon gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12255648 SGCE sarcoglycan epsilon gene DOID:630 genetic disease ISO RGD:1352882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11528394|PMID:12821748|PMID:15389977|PMID:15728306|PMID:17296918|PMID:17853490|PMID:18205193|PMID:23748201|PMID:24297365|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9750929 12255673 MEAF6 MYST/Esa1 associated factor 6 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1604318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12255673 MEAF6 MYST/Esa1 associated factor 6 gene DOID:630 genetic disease ISO RGD:1604318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255685 TARDBP TAR DNA binding protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1322081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12255685 TARDBP TAR DNA binding protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1322081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant PMID:19411082|PMID:20082726|PMID:20675015|PMID:20708823|PMID:22575358|PMID:24033266|PMID:26467025|PMID:28492532 12255685 TARDBP TAR DNA binding protein gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:1322081 D RGD:7240710 20180130 OMIM 12255685 TARDBP TAR DNA binding protein gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:1322081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED | ClinVar Annotator: match by term: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED PMID:18068872|PMID:18288693|PMID:18309045|PMID:18372902|PMID:18396105|PMID:18438952|PMID:18505686|PMID:18545701|PMID:18779421|PMID:18802454|PMID:18931000|PMID:19204172|PMID:19224587|PMID:19228676|PMID:19236453|PMID:19350673|PMID:19411082|PMID:19429692|PMID:19465477|PMID:19515851|PMID:19609911|PMID:19618195|PMID:19655382|PMID:19695877|PMID:19714537|PMID:19760257|PMID:19786775|PMID:19808791|PMID:19833869|PMID:19864663|PMID:19864664|PMID:19959528|PMID:20031275|PMID:20082726|PMID:20154440|PMID:20301761|PMID:20472325|PMID:20555136|PMID:20558945|PMID:20577002|PMID:20600671|PMID:20624952|PMID:20645878|PMID:20675015|PMID:20697052|PMID:20708823|PMID:20806063|PMID:20959352|PMID:21123567|PMID:21173160|PMID:21220647|PMID:21403029|PMID:21438137|PMID:21651514|PMID:21666678|PMID:21752789|PMID:21829392|PMID:21830990|PMID:21857683|PMID:21943958|PMID:22121224|PMID:22406069|PMID:22456481|PMID:22539580|PMID:22563080|PMID:22575358|PMID:22645277|PMID:22722621|PMID:23100398|PMID:23231971|PMID:23235148|PMID:23327806|PMID:23345247|PMID:23356346|PMID:23401527|PMID:23457265|PMID:23692129|PMID:23721326|PMID:23827948|PMID:23881933|PMID:24117534|PMID:24143176|PMID:24237396|PMID:24440310|PMID:24477737|PMID:24507191|PMID:25090004|PMID:25138285|PMID:25375143|PMID:25382069|PMID:25408367|PMID:25442115|PMID:25588603|PMID:25681989|PMID:25741868|PMID:25792239|PMID:25913742|PMID:26096467|PMID:26467025|PMID:26581115|PMID:26777436|PMID:26883171|PMID:27348499|PMID:27570075|PMID:28089114|PMID:28286471|PMID:28334913|PMID:28335005|PMID:28430856|PMID:28444446|PMID:28487370|PMID:28492532|PMID:28573484|PMID:28709720|PMID:28889094|PMID:29091718|PMID:29411640|PMID:29419416|PMID:29525180|PMID:29621978|PMID:29630989|PMID:29650794|PMID:29801890|PMID:29895397|PMID:30324134|PMID:30442180|PMID:30461104|PMID:30553531|PMID:30586030|PMID:30773994|PMID:31124595|PMID:31852254|PMID:31996268|PMID:32166880|PMID:32253937|PMID:32409511|PMID:32579787|PMID:32843152|PMID:32951934|PMID:33159016|PMID:33301444|PMID:33479441|PMID:33589474|PMID:33770234|PMID:34162492 12255685 TARDBP TAR DNA binding protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1322081 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12255685 TARDBP TAR DNA binding protein gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1617357 D RGD:9068941 20220825 MouseDO OMIM:607485 12255685 TARDBP TAR DNA binding protein gene DOID:0111936 immunodeficiency 14 ISO RGD:1322081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 12255685 TARDBP TAR DNA binding protein gene DOID:10652 Alzheimer's disease ISO RGD:1322081 D RGD:9068941 20200609 RGD protein:increased expression, phosphorylation:motor cortex PMID:21376022|REF_RGD_ID:5687139 12255685 TARDBP TAR DNA binding protein gene DOID:10652 Alzheimer's disease ISO RGD:1617357 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:21070634|REF_RGD_ID:5687178 12255685 TARDBP TAR DNA binding protein gene DOID:11870 Pick's disease ISO RGD:1322081 D RGD:9068941 20200609 RGD PMID:18091558|REF_RGD_ID:5687194 12255685 TARDBP TAR DNA binding protein gene DOID:12217 Lewy body dementia ISO RGD:1322081 D RGD:9068941 20200609 RGD PMID:20669025|REF_RGD_ID:5687180 12255685 TARDBP TAR DNA binding protein gene DOID:1289 neurodegenerative disease ISO RGD:1322081 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33479441 12255685 TARDBP TAR DNA binding protein gene DOID:14330 Parkinson's disease ISO RGD:1322081 D RGD:9068941 20200609 RGD PMID:20551689|REF_RGD_ID:5687183 12255685 TARDBP TAR DNA binding protein gene DOID:14330 Parkinson's disease ISO RGD:1322081 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.A382T (human) PMID:21667065|REF_RGD_ID:5687172 12255685 TARDBP TAR DNA binding protein gene DOID:231 motor neuron disease ISO RGD:1322081 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:18372902|PMID:18931000|PMID:19224587|PMID:19760257|PMID:23881933|PMID:25442115|PMID:25741868|PMID:28089114|PMID:28430856|PMID:28492532 12255685 TARDBP TAR DNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1322081 D RGD:9068941 20200609 RGD PMID:21752789|REF_RGD_ID:5687134 12255685 TARDBP TAR DNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1322081 D RGD:9068941 20200609 RGD DNA:missense mutations:cds: PMID:18372902|REF_RGD_ID:5687192 12255685 TARDBP TAR DNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1322081 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.G295S(human) PMID:21651514|REF_RGD_ID:5687173 12255685 TARDBP TAR DNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1322081 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.M337V(human) PMID:18309045|REF_RGD_ID:5687157 12255685 TARDBP TAR DNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1322081 D RGD:9068941 20200609 RGD protein:increased phosphorylation:brain PMID:17023659|REF_RGD_ID:5687158 12255685 TARDBP TAR DNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1322081 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:18372902|PMID:21167262|PMID:22879928|PMID:23104007|PMID:23891805|PMID:24019256|PMID:24252504|PMID:26980269|PMID:28122516|PMID:28478440|PMID:29419416|PMID:30157956 12255685 TARDBP TAR DNA binding protein gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:1322081 D RGD:9068941 20200609 RGD PMID:21998667|REF_RGD_ID:5687137 12255685 TARDBP TAR DNA binding protein gene DOID:630 genetic disease ISO RGD:1322081 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18068872|PMID:18288693|PMID:18309045|PMID:18372902|PMID:18505686|PMID:18545701|PMID:18779421|PMID:18802454|PMID:18931000|PMID:19204172|PMID:19224587|PMID:19236453|PMID:19411082|PMID:19515851|PMID:19695877|PMID:19760257|PMID:19786775|PMID:19808791|PMID:19864663|PMID:20082726|PMID:20555136|PMID:20645878|PMID:20675015|PMID:20708823|PMID:21120508|PMID:21173160|PMID:22121224|PMID:22456481|PMID:22539580|PMID:22575358|PMID:22645277|PMID:22722621|PMID:23100398|PMID:23327806|PMID:24143176|PMID:24325798|PMID:25375143|PMID:25442115|PMID:25588603|PMID:25741868|PMID:26467025|PMID:26883171|PMID:28286471|PMID:28335005|PMID:28430856|PMID:28492532|PMID:28889094|PMID:29091718|PMID:31996268|PMID:33589474|PMID:34162492 12255685 TARDBP TAR DNA binding protein gene DOID:678 progressive supranuclear palsy ISO RGD:1322081 D RGD:9068941 20200609 RGD PMID:20512649|REF_RGD_ID:5687185 12255685 TARDBP TAR DNA binding protein gene DOID:9000998 Brain Injuries ISO RGD:1322081 D RGD:9068941 20200609 RGD PMID:22101322|REF_RGD_ID:5687195 12255685 TARDBP TAR DNA binding protein gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1322081 D RGD:9068941 20200609 RGD PMID:22177996|REF_RGD_ID:5687136 12255685 TARDBP TAR DNA binding protein gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1322081 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.A382T (human) PMID:21667065|REF_RGD_ID:5687172 12255685 TARDBP TAR DNA binding protein gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1322081 D RGD:9068941 20200609 RGD protein:increased phosphorylation:brain PMID:17023659|REF_RGD_ID:5687158 12255685 TARDBP TAR DNA binding protein gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1322081 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:24019256|PMID:24252504|PMID:24477737|PMID:26980269 12255685 TARDBP TAR DNA binding protein gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1617357 D RGD:9068941 20200609 RGD PMID:20660618|REF_RGD_ID:5687159 12255685 TARDBP TAR DNA binding protein gene DOID:9002347 MASP2 Deficiency ISO RGD:1322081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 2 | ClinVar Annotator: match by term: MASP2 deficiency PMID:24033266|PMID:25741868|PMID:28492532 12255685 TARDBP TAR DNA binding protein gene DOID:9002775 Cognitive Dysfunction ISO RGD:1322081 D RGD:9068941 20200609 RGD protein:increased phosphorylation:neocortex PMID:21865887|REF_RGD_ID:5687171 12255685 TARDBP TAR DNA binding protein gene DOID:9005179 Chronic Brain Injury ISO RGD:1322081 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:20720505|REF_RGD_ID:5687179 12255685 TARDBP TAR DNA binding protein gene DOID:9006158 Peroxisome Biogenesis Disorder, Complementation Group K ISO RGD:1322081 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K PMID:28492532 12255685 TARDBP TAR DNA binding protein gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1322081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 12255685 TARDBP TAR DNA binding protein gene DOID:9255 frontotemporal dementia ISO RGD:1322081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia PMID:19411082|PMID:20082726|PMID:20675015|PMID:20708823|PMID:22575358|PMID:24033266|PMID:26467025|PMID:28492532 12255698 TMCO5A transmembrane and coiled-coil domains 5A gene DOID:10283 prostate cancer ISO RGD:1606151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12255698 TMCO5A transmembrane and coiled-coil domains 5A gene DOID:2717 Bloom syndrome ISO RGD:1606151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12255698 TMCO5A transmembrane and coiled-coil domains 5A gene DOID:630 genetic disease ISO RGD:1606151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255698 TMCO5A transmembrane and coiled-coil domains 5A gene DOID:9256 colorectal cancer ISO RGD:1606151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12255725 BAZ1B bromodomain adjacent to zinc finger domain 1B gene DOID:0060041 autism spectrum disorder ISO RGD:1314248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12255725 BAZ1B bromodomain adjacent to zinc finger domain 1B gene DOID:10923 sickle cell anemia ISO RGD:1314248 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12255725 BAZ1B bromodomain adjacent to zinc finger domain 1B gene DOID:12849 autistic disorder ISO RGD:1314248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12255725 BAZ1B bromodomain adjacent to zinc finger domain 1B gene DOID:1928 Williams-Beuren syndrome ISO RGD:1314248 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 12255725 BAZ1B bromodomain adjacent to zinc finger domain 1B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12255725 BAZ1B bromodomain adjacent to zinc finger domain 1B gene DOID:5419 schizophrenia ISO RGD:1314248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12255725 BAZ1B bromodomain adjacent to zinc finger domain 1B gene DOID:630 genetic disease ISO RGD:1314248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12255725 BAZ1B bromodomain adjacent to zinc finger domain 1B gene DOID:8445 intestinal volvulus ISO RGD:1314248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12255725 BAZ1B bromodomain adjacent to zinc finger domain 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12255725 BAZ1B bromodomain adjacent to zinc finger domain 1B gene DOID:9008419 Volvulus Of Midgut ISO RGD:1314248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12255748 CEP76 centrosomal protein 76 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1313060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12255748 CEP76 centrosomal protein 76 gene DOID:1059 intellectual disability ISO RGD:1313060 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12255748 CEP76 centrosomal protein 76 gene DOID:543 dystonia ISO RGD:1313060 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 12255748 CEP76 centrosomal protein 76 gene DOID:630 genetic disease ISO RGD:1313060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255748 CEP76 centrosomal protein 76 gene DOID:9007661 Dwarfism ISO RGD:1313060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12255777 SLURP1 secreted LY6/PLAUR domain containing 1 gene DOID:0060862 mal de Meleda ISO RGD:1346067 D RGD:7240710 20210303 OMIM 12255777 SLURP1 secreted LY6/PLAUR domain containing 1 gene DOID:0060862 mal de Meleda ISO RGD:1346067 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS TRANSGREDIENS OF SIEMENS | ClinVar Annotator: match by term: Meleda Disease PMID:11285253|PMID:12483299|PMID:12535203|PMID:12603845|PMID:14674887|PMID:14756676|PMID:17008884|PMID:23290002|PMID:24033266|PMID:24093092|PMID:24604124|PMID:25741868|PMID:28492532|PMID:29231248|PMID:9887370 12255777 SLURP1 secreted LY6/PLAUR domain containing 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1346067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 12255777 SLURP1 secreted LY6/PLAUR domain containing 1 gene DOID:3390 palmoplantar keratosis ISO RGD:1346067 D RGD:9068941 20210305 CTD CTD Direct Evidence: marker/mechanism PMID:25168896 12255777 SLURP1 secreted LY6/PLAUR domain containing 1 gene DOID:3390 palmoplantar keratosis ISO RGD:1346067 D RGD:9068941 20210305 RGD DNA:frameshift mutation, nonsense mutation, snp:cds, intron:p.C28fs32X, p.R96X, IVS2+1G>A (human) PMID:11285253|REF_RGD_ID:1599051 12255777 SLURP1 secreted LY6/PLAUR domain containing 1 gene DOID:4621 holoprosencephaly ISO RGD:1346067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12255784 SCYL2 SCY1 like pseudokinase 2 gene DOID:0080980 arthrogryposis multiplex congenita-4 ISO RGD:1343640 D RGD:7240710 20200318 OMIM 12255784 SCYL2 SCY1 like pseudokinase 2 gene DOID:0080980 arthrogryposis multiplex congenita-4 ISO RGD:1343640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum PMID:25741868|PMID:31960134 12255784 SCYL2 SCY1 like pseudokinase 2 gene DOID:630 genetic disease ISO RGD:1343640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255815 PRNP prion protein gene DOID:0050433 fatal familial insomnia ISO RGD:737306 D RGD:7240710 20180130 OMIM 12255815 PRNP prion protein gene DOID:0050433 fatal familial insomnia ISO RGD:737306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fatal familial insomnia PMID:10079068|PMID:10090891|PMID:10360778|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10588836|PMID:10665501|PMID:10889050|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11756597|PMID:11839833|PMID:11840201|PMID:12451207|PMID:12590162|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1351274|PMID:1353341|PMID:1404799|PMID:1439789|PMID:14520676|PMID:14562104|PMID:1469441|PMID:14761942|PMID:14872044|PMID:14967768|PMID:14970845|PMID:15277640|PMID:15366237|PMID:15539564|PMID:15987701|PMID:16217673|PMID:16227536|PMID:16313190|PMID:16315279|PMID:16369046|PMID:16391566|PMID:16565881|PMID:1671440|PMID:1677164|PMID:1682813|PMID:1684089|PMID:1684755|PMID:1684758|PMID:16969862|PMID:17013786|PMID:17029785|PMID:17494694|PMID:1798423|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19543376|PMID:19680558|PMID:19703264|PMID:1971924|PMID:1975028|PMID:19923577|PMID:20038778|PMID:20139714|PMID:20301407|PMID:20514992|PMID:20583301|PMID:20592908|PMID:20593190|PMID:21269331|PMID:21298055|PMID:21616973|PMID:21839748|PMID:21909425|PMID:21983261|PMID:22072968|PMID:22108575|PMID:22318125|PMID:2253724|PMID:22561193|PMID:22584955|PMID:22947063|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23296137|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23723004|PMID:2378641|PMID:24583440|PMID:24838726|PMID:25064618|PMID:25279981|PMID:25482600|PMID:25522698|PMID:2572450|PMID:25741868|PMID:25818675|PMID:26000326|PMID:26268049|PMID:26488179|PMID:26578040|PMID:26791950|PMID:27341347|PMID:27350609|PMID:27803826|PMID:2783132|PMID:28492532|PMID:29092967|PMID:29382530|PMID:29887139|PMID:7902693|PMID:7908444|PMID:7916462|PMID:7936296|PMID:7999318|PMID:8105682|PMID:8137139|PMID:8461023|PMID:8618678|PMID:9270595|PMID:9279329|PMID:9531435|PMID:9643750|PMID:9748018|PMID:9751723|PMID:9786248|PMID:9789072|PMID:9813003 12255815 PRNP prion protein gene DOID:0090103 Huntington's disease-like 1 ISO RGD:737306 D RGD:7240710 20180130 OMIM 12255815 PRNP prion protein gene DOID:0090103 Huntington's disease-like 1 ISO RGD:737306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 | ClinVar Annotator: match by term: PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES PMID:10079068|PMID:10090891|PMID:10360778|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10588836|PMID:10612329|PMID:10631141|PMID:10665501|PMID:10790216|PMID:10889050|PMID:10953203|PMID:10970892|PMID:10987652|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11568919|PMID:11709001|PMID:11749972|PMID:11756421|PMID:11756597|PMID:11839833|PMID:11840201|PMID:11967261|PMID:12172394|PMID:12372829|PMID:12420099|PMID:12451207|PMID:12590162|PMID:12601712|PMID:12690204|PMID:12813570|PMID:12815603|PMID:12867116|PMID:12891686|PMID:1351274|PMID:1353341|PMID:1357663|PMID:1363809|PMID:1363810|PMID:1404799|PMID:1439789|PMID:14520676|PMID:14562104|PMID:14610121|PMID:1469441|PMID:14761942|PMID:14872044|PMID:14967768|PMID:14970845|PMID:15277640|PMID:15366237|PMID:15539564|PMID:15557533|PMID:15739100|PMID:15753435|PMID:15776279|PMID:15967879|PMID:15987701|PMID:16025285|PMID:16187142|PMID:16217673|PMID:16227536|PMID:16313190|PMID:16314483|PMID:16315279|PMID:16369046|PMID:16380907|PMID:16391566|PMID:16533975|PMID:16565881|PMID:1671440|PMID:1672296|PMID:1674033|PMID:1677164|PMID:1682813|PMID:1684089|PMID:1684755|PMID:1684758|PMID:16939293|PMID:16969862|PMID:17013786|PMID:17029785|PMID:17494694|PMID:17666888|PMID:17851697|PMID:1798423|PMID:18425766|PMID:18455951|PMID:18478114|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19543376|PMID:19680558|PMID:19696976|PMID:19703264|PMID:1971924|PMID:1975028|PMID:19923577|PMID:20038778|PMID:20139714|PMID:20301407|PMID:20514992|PMID:20541558|PMID:20583301|PMID:20592908|PMID:20593190|PMID:20697057|PMID:21107135|PMID:21269331|PMID:21298055|PMID:21416485|PMID:21552571|PMID:21616973|PMID:21791975|PMID:2180366|PMID:21839748|PMID:21904617|PMID:2190844|PMID:21909425|PMID:21983261|PMID:22072968|PMID:22097954|PMID:22108575|PMID:22318125|PMID:22488860|PMID:2253724|PMID:22561193|PMID:22584955|PMID:22717776|PMID:22947063|PMID:22965875|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23261545|PMID:23296137|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23668481|PMID:23723004|PMID:2378641|PMID:23871665|PMID:2458274|PMID:24583440|PMID:24838726|PMID:24958194|PMID:25022973|PMID:25064618|PMID:25279981|PMID:25450391|PMID:25482600|PMID:25522698|PMID:2564168|PMID:2572450|PMID:25741868|PMID:25818675|PMID:25959220|PMID:26000326|PMID:26268049|PMID:26323476|PMID:26488179|PMID:26578040|PMID:26757195|PMID:26791950|PMID:27341347|PMID:27350609|PMID:27716661|PMID:27803826|PMID:2783132|PMID:2812321|PMID:28314738|PMID:28492532|PMID:29092967|PMID:29382530|PMID:29458424|PMID:29887139|PMID:34663460|PMID:7902693|PMID:7902971|PMID:7908444|PMID:7916462|PMID:7936296|PMID:7954833|PMID:7999318|PMID:8105682|PMID:8137139|PMID:8461023|PMID:8618678|PMID:8698234|PMID:8909447|PMID:8939199|PMID:9270595|PMID:9279329|PMID:9482303|PMID:9531435|PMID:9643750|PMID:9653185|PMID:9748018|PMID:9751723|PMID:9786248|PMID:9789072|PMID:9813003 12255815 PRNP prion protein gene DOID:10652 Alzheimer's disease ISO RGD:737306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early-onset, susceptibility to PMID:10437852|PMID:10581230|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11840201|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16391566|PMID:16565881|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16969862|PMID:18955686|PMID:1971924|PMID:19923577|PMID:2378641|PMID:25741868|PMID:2783132|PMID:28492532|PMID:7908444|PMID:8137139|PMID:9643750|PMID:9748018|PMID:9751723|PMID:9789072 12255815 PRNP prion protein gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:737306 D RGD:7240710 20180130 OMIM 12255815 PRNP prion protein gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:737306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Creutzfeldt-Jakob Disease, Familial | ClinVar Annotator: match by term: Protection against Creutzfeldt-Jakob disease PMID:10079068|PMID:10090891|PMID:10360778|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10665501|PMID:10889050|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11756597|PMID:11839833|PMID:11840201|PMID:11967261|PMID:12172394|PMID:12451207|PMID:12601712|PMID:12815603|PMID:12867116|PMID:12891686|PMID:1351274|PMID:1353341|PMID:1404799|PMID:14520676|PMID:14562104|PMID:1469441|PMID:14761942|PMID:14872044|PMID:14967768|PMID:14970845|PMID:15277640|PMID:15366237|PMID:15539564|PMID:15557533|PMID:15739100|PMID:15753435|PMID:15967879|PMID:15987701|PMID:16187142|PMID:16217673|PMID:16315279|PMID:16369046|PMID:16380907|PMID:16391566|PMID:16533975|PMID:16565881|PMID:1672296|PMID:1674033|PMID:1677164|PMID:1682813|PMID:1684089|PMID:1684755|PMID:1684758|PMID:16969862|PMID:17029785|PMID:17494694|PMID:17666888|PMID:1798423|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19696976|PMID:19703264|PMID:1971924|PMID:1975028|PMID:19923577|PMID:20139714|PMID:20301407|PMID:20514992|PMID:20541558|PMID:20583301|PMID:20592908|PMID:20593190|PMID:20697057|PMID:21269331|PMID:21298055|PMID:21552571|PMID:21791975|PMID:2180366|PMID:21839748|PMID:2190844|PMID:21909425|PMID:21983261|PMID:22072968|PMID:22097954|PMID:22108575|PMID:22318125|PMID:22488860|PMID:2253724|PMID:22561193|PMID:22584955|PMID:22947063|PMID:22965875|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23296137|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23668481|PMID:23723004|PMID:2378641|PMID:2458274|PMID:24583440|PMID:24838726|PMID:25064618|PMID:25279981|PMID:25450391|PMID:25482600|PMID:25522698|PMID:2564168|PMID:2572450|PMID:25741868|PMID:25818675|PMID:25959220|PMID:26268049|PMID:26578040|PMID:26791950|PMID:27341347|PMID:27803826|PMID:2783132|PMID:28492532|PMID:29382530|PMID:29887139|PMID:7902693|PMID:7902971|PMID:7908444|PMID:7916462|PMID:7936296|PMID:7999318|PMID:8105682|PMID:8137139|PMID:8461023|PMID:8618678|PMID:8698234|PMID:8909447|PMID:9279329|PMID:9482303|PMID:9643750|PMID:9653185|PMID:9748018|PMID:9751723|PMID:9789072|PMID:9813003 12255815 PRNP prion protein gene DOID:2377 multiple sclerosis ISO RGD:737306 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 12255815 PRNP prion protein gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:737306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12255815 PRNP prion protein gene DOID:4195 hyperglycemia ISO RGD:3410 D RGD:9068941 20200609 RGD PMID:17146448|REF_RGD_ID:1599950 12255815 PRNP prion protein gene DOID:4249 Gerstmann-Straussler-Scheinker syndrome ISO RGD:737306 D RGD:7240710 20180130 OMIM 12255815 PRNP prion protein gene DOID:4249 Gerstmann-Straussler-Scheinker syndrome ISO RGD:737306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED | ClinVar Annotator: match by term: Encephalopathy subacute spongiform Gerstmann-Straussler type | ClinVar Annotator: match by term: Gerstmann-Straussler-Scheinker syndrome PMID:10079068|PMID:10437852|PMID:10506086|PMID:10526198|PMID:10581230|PMID:10581485|PMID:10631141|PMID:10698707|PMID:10790216|PMID:10953183|PMID:10953203|PMID:10970892|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11568919|PMID:11704923|PMID:11709001|PMID:11749972|PMID:11756597|PMID:11840201|PMID:11967261|PMID:12172394|PMID:12372829|PMID:12451207|PMID:12590162|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1353341|PMID:1357663|PMID:1363809|PMID:1363810|PMID:14520676|PMID:14562104|PMID:14761942|PMID:14872044|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15824374|PMID:15967879|PMID:15987701|PMID:16025285|PMID:16217673|PMID:16315279|PMID:16369046|PMID:16380907|PMID:16391566|PMID:16565881|PMID:1672296|PMID:1674033|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16939293|PMID:16969862|PMID:17029785|PMID:17353478|PMID:17494694|PMID:17666888|PMID:18955686|PMID:19225789|PMID:19422533|PMID:19422537|PMID:19675240|PMID:19680558|PMID:19696976|PMID:19703264|PMID:1971924|PMID:19911184|PMID:19923577|PMID:20301407|PMID:20541558|PMID:20583301|PMID:20592908|PMID:21269331|PMID:21416485|PMID:2180366|PMID:21839748|PMID:2190844|PMID:21909425|PMID:21983261|PMID:22097954|PMID:22108575|PMID:22561193|PMID:22947063|PMID:22965875|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23668481|PMID:2378641|PMID:24583440|PMID:24838726|PMID:24958194|PMID:25482600|PMID:2564168|PMID:2572450|PMID:25741868|PMID:25818675|PMID:25959220|PMID:26268049|PMID:26323476|PMID:26578040|PMID:26791950|PMID:27341347|PMID:27716661|PMID:2783132|PMID:2812321|PMID:28492532|PMID:29382530|PMID:29458424|PMID:29887139|PMID:7501157|PMID:7902693|PMID:7902971|PMID:7902972|PMID:7908444|PMID:7954833|PMID:8137139|PMID:8461023|PMID:8570627|PMID:8698234|PMID:8939199|PMID:9452375|PMID:9643750|PMID:9653185|PMID:9748018|PMID:9751723|PMID:9789072 12255815 PRNP prion protein gene DOID:5434 scrapie ISO RGD:737306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11701772|PMID:18717736|PMID:19486493|PMID:21533749 12255815 PRNP prion protein gene DOID:5434 scrapie onset ISO RGD:3410 D RGD:9068941 20200609 RGD PMID:29157304|REF_RGD_ID:15045596 12255815 PRNP prion protein gene DOID:630 genetic disease ISO RGD:737306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10506086|PMID:10698707|PMID:19675240|PMID:2783132|PMID:7501157|PMID:7902972|PMID:9452375 12255815 PRNP prion protein gene DOID:648 kuru ISO RGD:737306 D RGD:7240710 20230505 OMIM 12255815 PRNP prion protein gene DOID:648 kuru ISO RGD:737306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kuru, protection against | ClinVar Annotator: match by term: Kuru, susceptibility to PMID:10079068|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11756597|PMID:11840201|PMID:12451207|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14761942|PMID:14872044|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16369046|PMID:16391566|PMID:16565881|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16969862|PMID:17029785|PMID:17494694|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19703264|PMID:1971924|PMID:19923577|PMID:20301407|PMID:20583301|PMID:20592908|PMID:21269331|PMID:21839748|PMID:21909425|PMID:21983261|PMID:22108575|PMID:22561193|PMID:22947063|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23320809|PMID:23527023|PMID:23555862|PMID:2378641|PMID:24583440|PMID:24838726|PMID:25482600|PMID:25741868|PMID:25818675|PMID:26061765|PMID:26268049|PMID:26578040|PMID:26791950|PMID:27341347|PMID:2783132|PMID:28492532|PMID:29382530|PMID:29887139|PMID:7902693|PMID:7908444|PMID:8137139|PMID:8461023|PMID:9643750|PMID:9748018|PMID:9751723|PMID:9789072 12255815 PRNP prion protein gene DOID:649 prion disease ISO RGD:737306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inherited prion disease | ClinVar Annotator: match by term: Prion disease, susceptibility to | ClinVar Annotator: match by term: Spongiform encephalopathy PMID:10079068|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10612329|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11756597|PMID:11840201|PMID:11967261|PMID:12172394|PMID:12420099|PMID:12451207|PMID:12601712|PMID:12690204|PMID:12813570|PMID:12815603|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14610121|PMID:14761942|PMID:14872044|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15557533|PMID:15967879|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16369046|PMID:16380907|PMID:16391566|PMID:16565881|PMID:1672296|PMID:1674033|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16969862|PMID:17029785|PMID:17494694|PMID:17666888|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19696976|PMID:19703264|PMID:1971924|PMID:19812771|PMID:19923577|PMID:20301407|PMID:20583301|PMID:20592908|PMID:20697057|PMID:21269331|PMID:2180366|PMID:21839748|PMID:2190844|PMID:21909425|PMID:21983261|PMID:22097954|PMID:22108575|PMID:22561193|PMID:22947063|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23668481|PMID:2378641|PMID:24583440|PMID:24838726|PMID:25022973|PMID:25482600|PMID:2564168|PMID:2572450|PMID:25741868|PMID:25818675|PMID:26268049|PMID:26578040|PMID:26757195|PMID:26791950|PMID:27341347|PMID:2783132|PMID:28492532|PMID:29382530|PMID:29887139|PMID:30606247|PMID:7902693|PMID:7902971|PMID:7908444|PMID:8137139|PMID:8461023|PMID:8698234|PMID:9482303|PMID:9643750|PMID:9653185|PMID:9748018|PMID:9751723|PMID:9789072 12255815 PRNP prion protein gene DOID:8725 vascular dementia ISO RGD:737306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 12255815 PRNP prion protein gene DOID:891 progressive myoclonus epilepsy ISO RGD:737306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 12255815 PRNP prion protein gene DOID:893 Wilson disease ISO RGD:737306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16831968 12255815 PRNP prion protein gene DOID:9000217 Stomach Neoplasms ISO RGD:737306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17387271 12255815 PRNP prion protein gene DOID:9000965 Neoplasm Metastasis ISO RGD:737306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17387271 12255815 PRNP prion protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12255815 PRNP prion protein gene DOID:9002170 Experimental Neoplasms ISO RGD:737306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21265952 12255815 PRNP prion protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:737306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12255815 PRNP prion protein gene DOID:9005749 Necrosis ISO RGD:737306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18547651 12255815 PRNP prion protein gene DOID:9005780 Spongiform Encephalopathy with Neuropsychiatric Features ISO RGD:737306 D RGD:7240710 20180130 OMIM 12255815 PRNP prion protein gene DOID:9005780 Spongiform Encephalopathy with Neuropsychiatric Features ISO RGD:737306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spongiform encephalopathy with neuropsychiatric features PMID:10079068|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10581485|PMID:10612329|PMID:10953183|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11756597|PMID:11840201|PMID:11967261|PMID:12172394|PMID:12451207|PMID:12601712|PMID:12813570|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14610121|PMID:14761942|PMID:14872044|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15824374|PMID:15967879|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16369046|PMID:16380907|PMID:16391566|PMID:16565881|PMID:1672296|PMID:1674033|PMID:1677164|PMID:1682813|PMID:16831973|PMID:1684089|PMID:16969862|PMID:17029785|PMID:17494694|PMID:17666888|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19696976|PMID:19703264|PMID:1971924|PMID:19923577|PMID:20301407|PMID:20583301|PMID:20592908|PMID:21269331|PMID:2180366|PMID:21839748|PMID:2190844|PMID:21909425|PMID:21983261|PMID:22097954|PMID:22108575|PMID:22561193|PMID:22947063|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23668481|PMID:2378641|PMID:24583440|PMID:24838726|PMID:25482600|PMID:2564168|PMID:2572450|PMID:25741868|PMID:25818675|PMID:26268049|PMID:26578040|PMID:26791950|PMID:27341347|PMID:2783132|PMID:28492532|PMID:29382530|PMID:29887139|PMID:7902693|PMID:7902971|PMID:7908444|PMID:8137139|PMID:8461023|PMID:8698234|PMID:9266722|PMID:9643750|PMID:9653185|PMID:9748018|PMID:9751723|PMID:9789072 12255815 PRNP prion protein gene DOID:9006061 Cerebral Amyloidosis with Spongiform Encephalopathy ISO RGD:737306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyloidosis cerebral with spongiform encephalopathy PMID:10079068|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11756597|PMID:11840201|PMID:11967261|PMID:12172394|PMID:12451207|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14761942|PMID:14872044|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15967879|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16369046|PMID:16380907|PMID:16391566|PMID:16565881|PMID:1672296|PMID:1674033|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16969862|PMID:17029785|PMID:17494694|PMID:17666888|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19696976|PMID:19703264|PMID:1971924|PMID:19923577|PMID:20301407|PMID:20583301|PMID:20592908|PMID:21269331|PMID:2180366|PMID:21839748|PMID:2190844|PMID:21909425|PMID:21983261|PMID:22097954|PMID:22108575|PMID:22561193|PMID:22947063|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23668481|PMID:2378641|PMID:24583440|PMID:24838726|PMID:25482600|PMID:2564168|PMID:2572450|PMID:25741868|PMID:25818675|PMID:26268049|PMID:26578040|PMID:26791950|PMID:27341347|PMID:2783132|PMID:28492532|PMID:29382530|PMID:29887139|PMID:7902693|PMID:7902971|PMID:7908444|PMID:8137139|PMID:8461023|PMID:8698234|PMID:9643750|PMID:9653185|PMID:9748018|PMID:9751723|PMID:9789072 12255815 PRNP prion protein gene DOID:9008293 Primary Progressive Aphasia ISO RGD:737306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aphasia, primary progressive, susceptibility to PMID:10437852|PMID:10581230|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11840201|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16391566|PMID:16565881|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16969862|PMID:18955686|PMID:1971924|PMID:19923577|PMID:2378641|PMID:25741868|PMID:2783132|PMID:28492532|PMID:7908444|PMID:8137139|PMID:9643750|PMID:9748018|PMID:9751723|PMID:9789072 12255815 PRNP prion protein gene DOID:9008393 Spinocerebellar Ataxia and Plaque-Like Deposits ISO RGD:737306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia and plaque-like deposits PMID:10079068|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11756597|PMID:11840201|PMID:11967261|PMID:12172394|PMID:12451207|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14761942|PMID:14872044|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15967879|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16369046|PMID:16380907|PMID:16391566|PMID:16565881|PMID:1672296|PMID:1674033|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16969862|PMID:17029785|PMID:17494694|PMID:17666888|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19696976|PMID:19703264|PMID:1971924|PMID:19923577|PMID:20301407|PMID:20583301|PMID:20592908|PMID:21269331|PMID:2180366|PMID:21839748|PMID:2190844|PMID:21909425|PMID:21983261|PMID:22097954|PMID:22108575|PMID:22561193|PMID:22947063|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23668481|PMID:2378641|PMID:24583440|PMID:24838726|PMID:25482600|PMID:2564168|PMID:2572450|PMID:25741868|PMID:25818675|PMID:26268049|PMID:26578040|PMID:26791950|PMID:27341347|PMID:2783132|PMID:28492532|PMID:29382530|PMID:29887139|PMID:7902693|PMID:7902971|PMID:7908444|PMID:8137139|PMID:8461023|PMID:8698234|PMID:9643750|PMID:9653185|PMID:9748018|PMID:9751723|PMID:9789072 12255827 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:10603 glucose intolerance ISO RGD:1351216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27381457 12255827 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:3021 acute kidney failure ISO RGD:1351216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21745194 12255827 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1351216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363678 12255827 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:6000 congestive heart failure ISO RGD:1351216 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:left ventricle myocardium (human) PMID:18323524|REF_RGD_ID:9835356 12255827 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:630 genetic disease ISO RGD:1351216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255827 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1351216 D RGD:9068941 20200609 RGD DNA:snps:introns: (rs2072115), (rs2074533) (human) PMID:15274052|REF_RGD_ID:9835361 12255827 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:9002056 Arterial Injury ISO RGD:621869 D RGD:9068941 20200609 RGD mRNA:increased expression:femoral artery (rat) PMID:18689492|REF_RGD_ID:9835375 12255827 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:9002098 Tick-Borne Diseases ISO RGD:1351216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24218580 12255827 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:9003936 Cardiomegaly ISO RGD:621869 D RGD:9068941 20200609 RGD protein:increased expression:left ventricle myocardium (rat) PMID:18323524|REF_RGD_ID:9835356 12255827 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:9003936 Cardiomegaly susceptibility ISO RGD:732974 D RGD:9068941 20200609 RGD PMID:25411381|REF_RGD_ID:9850089 12255827 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:9004283 Transplant Rejection treatment ISO RGD:621869 D RGD:9068941 20200609 RGD PMID:18178058|REF_RGD_ID:9835362 12255827 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1351216 D RGD:9068941 20200609 RGD protein:altered expression:thyroid gland (human) PMID:25372777|REF_RGD_ID:9835389 12255827 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:732974 D RGD:9068941 20200609 RGD protein:increased expression:heart (mouse) PMID:24721545|REF_RGD_ID:9835365 12255827 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:9007347 Rickettsia Infections ISO RGD:1351216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24218580 12255827 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:9007730 Burns treatment ISO RGD:621869 D RGD:9068941 20200609 RGD PMID:24973766|REF_RGD_ID:9850087 12255827 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:9120 amyloidosis ISO RGD:732974 D RGD:9068941 20200609 RGD protein:increased expression:heart (mouse) PMID:24721545|REF_RGD_ID:9835365 12255827 RAPGEF3 Rap guanine nucleotide exchange factor 3 gene DOID:9970 obesity ISO RGD:1351216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 12255862 ESCO1 establishment of sister chromatid cohesion N-acetyltransferase 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1353486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 12255862 ESCO1 establishment of sister chromatid cohesion N-acetyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:1353486 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12255862 ESCO1 establishment of sister chromatid cohesion N-acetyltransferase 1 gene DOID:630 genetic disease ISO RGD:1353486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255903 SLC25A39 solute carrier family 25 member 39 gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1604622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 12255903 SLC25A39 solute carrier family 25 member 39 gene DOID:630 genetic disease ISO RGD:1604622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255921 EEIG1 estrogen-induced osteoclastogenesis regulator 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605493 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12255921 EEIG1 estrogen-induced osteoclastogenesis regulator 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1605493 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12255921 EEIG1 estrogen-induced osteoclastogenesis regulator 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1605493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12255921 EEIG1 estrogen-induced osteoclastogenesis regulator 1 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1605493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 12255921 EEIG1 estrogen-induced osteoclastogenesis regulator 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605493 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12255921 EEIG1 estrogen-induced osteoclastogenesis regulator 1 gene DOID:630 genetic disease ISO RGD:1605493 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255936 NLRP8 NLR family pyrin domain containing 8 gene DOID:630 genetic disease ISO RGD:1347943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255950 MARCKS myristoylated alanine rich protein kinase C substrate gene DOID:0060163 body dysmorphic disorder ISO RGD:735485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 12255950 MARCKS myristoylated alanine rich protein kinase C substrate gene DOID:0080202 adenoid cystic carcinoma ISO RGD:735485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12255950 MARCKS myristoylated alanine rich protein kinase C substrate gene DOID:11832 visual epilepsy ISO RGD:3028 D RGD:9068941 20200609 RGD PMID:11054811|REF_RGD_ID:9685329 12255950 MARCKS myristoylated alanine rich protein kinase C substrate gene DOID:3883 Lynch syndrome ISO RGD:735485 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 12255950 MARCKS myristoylated alanine rich protein kinase C substrate gene DOID:630 genetic disease ISO RGD:735485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1395931|PMID:1560845|PMID:16046479 12255950 MARCKS myristoylated alanine rich protein kinase C substrate gene DOID:7148 rheumatoid arthritis ISO RGD:735485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 12255950 MARCKS myristoylated alanine rich protein kinase C substrate gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:735485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12255950 MARCKS myristoylated alanine rich protein kinase C substrate gene DOID:9005172 Lung Neoplasms ISO RGD:735485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12255956 CCSER1 coiled-coil serine rich protein 1 gene DOID:13938 amenorrhea ISO RGD:1602258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12255956 CCSER1 coiled-coil serine rich protein 1 gene DOID:630 genetic disease ISO RGD:1602258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12255956 CCSER1 coiled-coil serine rich protein 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1602258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 12255974 MIR211 microRNA mir-211 gene DOID:0060041 autism spectrum disorder ISO RGD:1344448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:19050728|PMID:19289393|PMID:21844811|PMID:23044707|PMID:25255310|PMID:25741868|PMID:27569545 12255974 MIR211 microRNA mir-211 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1344448 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12255974 MIR211 microRNA mir-211 gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:1344448 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome PMID:31690835 12255974 MIR211 microRNA mir-211 gene DOID:0110867 congenital stationary night blindness 1C ISO RGD:1344448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1C PMID:25741868 12255974 MIR211 microRNA mir-211 gene DOID:12849 autistic disorder ISO RGD:1344448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12255974 MIR211 microRNA mir-211 gene DOID:5419 schizophrenia ISO RGD:1344448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12255974 MIR211 microRNA mir-211 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12255974 MIR211 microRNA mir-211 gene DOID:9256 colorectal cancer ISO RGD:1344448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 12256023 SNURF SNRPN upstream open reading frame gene DOID:0060041 autism spectrum disorder ISO RGD:736038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545|PMID:28492532 12256023 SNURF SNRPN upstream open reading frame gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:736038 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 12256023 SNURF SNRPN upstream open reading frame gene DOID:11983 Prader-Willi syndrome ISO RGD:736038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 12256023 SNURF SNRPN upstream open reading frame gene DOID:12849 autistic disorder ISO RGD:736038 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 12256023 SNURF SNRPN upstream open reading frame gene DOID:1932 Angelman syndrome ISO RGD:736038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:23495136|PMID:24088041|PMID:25099823|PMID:25212744|PMID:25884337|PMID:26633545|PMID:28492532 12256023 SNURF SNRPN upstream open reading frame gene DOID:5419 schizophrenia ISO RGD:736038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12256023 SNURF SNRPN upstream open reading frame gene DOID:630 genetic disease ISO RGD:736038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256023 SNURF SNRPN upstream open reading frame gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12256035 FASTKD5 FAST kinase domains 5 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1602469 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12256035 FASTKD5 FAST kinase domains 5 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1602469 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12256035 FASTKD5 FAST kinase domains 5 gene DOID:5419 schizophrenia ISO RGD:1602469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12256035 FASTKD5 FAST kinase domains 5 gene DOID:630 genetic disease ISO RGD:1602469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256035 FASTKD5 FAST kinase domains 5 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1602469 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 12256069 WASHC4 WASH complex subunit 4 gene DOID:0081207 autosomal recessive intellectual developmental disorder 43 ISO RGD:1603694 D RGD:7240710 20180130 OMIM 12256069 WASHC4 WASH complex subunit 4 gene DOID:0081207 autosomal recessive intellectual developmental disorder 43 ISO RGD:1603694 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 43 PMID:21498477|PMID:25741868|PMID:28492532|PMID:31953988|PMID:34599609 12256069 WASHC4 WASH complex subunit 4 gene DOID:630 genetic disease ISO RGD:1603694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12256069 WASHC4 WASH complex subunit 4 gene DOID:9169 Wiskott-Aldrich syndrome ISO RGD:1320642 D RGD:9068941 20220825 MouseDO OMIM:301000 12256107 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:0050746 mantle cell lymphoma ISO RGD:1353500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17148679 12256107 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1353500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 12256107 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1353500 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 12256107 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1353500 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 12256107 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:13515 tuberous sclerosis treatment ISO RGD:620259 D RGD:9068941 20200609 RGD PMID:12384518|REF_RGD_ID:1549429 12256107 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1353500 D RGD:9068941 20210903 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 12256107 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1353500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12256107 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:607 paraplegia ISO RGD:1353500 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12256107 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:630 genetic disease ISO RGD:1353500 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256107 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:1353500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21813464 12256107 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:9005372 Inflammation ISO RGD:1353500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 12256107 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:620259 D RGD:9068941 20200609 RGD PMID:16439989|REF_RGD_ID:10401145 12256107 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1353500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19458359 12256114 ERCC6L2 ERCC excision repair 6 like 2 gene DOID:1059 intellectual disability ISO RGD:1606875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12256114 ERCC6L2 ERCC excision repair 6 like 2 gene DOID:12450 pancytopenia ISO RGD:1606875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancytopenia PMID:25741868|PMID:29987015 12256114 ERCC6L2 ERCC excision repair 6 like 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1606875 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30879219 12256114 ERCC6L2 ERCC excision repair 6 like 2 gene DOID:4961 bone marrow disease ISO RGD:1606875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone marrow hypocellularity PMID:25741868|PMID:29987015 12256114 ERCC6L2 ERCC excision repair 6 like 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1606875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:24507776|PMID:25741868|PMID:27185855|PMID:28492532|PMID:29146883|PMID:29987015 12256114 ERCC6L2 ERCC excision repair 6 like 2 gene DOID:630 genetic disease ISO RGD:1606875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12256114 ERCC6L2 ERCC excision repair 6 like 2 gene DOID:9004906 Congenital Bone Marrow Failure Syndromes ISO RGD:1606875 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12256114 ERCC6L2 ERCC excision repair 6 like 2 gene DOID:9007049 Bone Marrow Failure Syndrome 2 ISO RGD:1606875 D RGD:7240710 20180130 OMIM 12256114 ERCC6L2 ERCC excision repair 6 like 2 gene DOID:9007049 Bone Marrow Failure Syndrome 2 ISO RGD:1606875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone marrow failure syndrome 2 PMID:24507776|PMID:25741868|PMID:27185855|PMID:28492532|PMID:29146883|PMID:29633571|PMID:29987015 12256131 N4BP2L2 NEDD4 binding protein 2 like 2 gene DOID:37 skin disease ISO RGD:1603408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12256131 N4BP2L2 NEDD4 binding protein 2 like 2 gene DOID:630 genetic disease ISO RGD:1603408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256131 N4BP2L2 NEDD4 binding protein 2 like 2 gene DOID:9007661 Dwarfism ISO RGD:1603408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12256131 N4BP2L2 NEDD4 binding protein 2 like 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:1603408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12256161 HHIPL2 HHIP like 2 gene DOID:0050439 Usher syndrome ISO RGD:1605638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 12256161 HHIPL2 HHIP like 2 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1605638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12256161 HHIPL2 HHIP like 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1605638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12256161 HHIPL2 HHIP like 2 gene DOID:630 genetic disease ISO RGD:1605638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256161 HHIPL2 HHIP like 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12256173 RFC1 replication factor C subunit 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1353491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926972 12256173 RFC1 replication factor C subunit 1 gene DOID:2366 West Nile fever susceptibility ISO RGD:1353491 D RGD:9068941 20210212 RGD DNA:silent mutation:CDS:p.P847P (rs2066786) (human) PMID:21881118|REF_RGD_ID:41410434 12256173 RFC1 replication factor C subunit 1 gene DOID:2477 motor peripheral neuropathy ISO RGD:1353491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926972 12256173 RFC1 replication factor C subunit 1 gene DOID:3347 osteosarcoma ISO RGD:1353491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19159907 12256173 RFC1 replication factor C subunit 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1353491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12256173 RFC1 replication factor C subunit 1 gene DOID:630 genetic disease ISO RGD:1353491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256173 RFC1 replication factor C subunit 1 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1353491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 12256173 RFC1 replication factor C subunit 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1353491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18926688 12256173 RFC1 replication factor C subunit 1 gene DOID:9006473 Bilateral Vestibulopathy ISO RGD:1353491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926972 12256173 RFC1 replication factor C subunit 1 gene DOID:9009139 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome ISO RGD:1353491 D RGD:7240710 20190515 OMIM 12256173 RFC1 replication factor C subunit 1 gene DOID:9009139 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome ISO RGD:1353491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome PMID:25741868 12256206 RUFY2 RUN and FYVE domain containing 2 gene DOID:630 genetic disease ISO RGD:1312074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256242 NSMCE1 NSE1 homolog, SMC5-SMC6 complex component gene DOID:630 genetic disease ISO RGD:1350522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256254 MAGED1 MAGE family member D1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12256254 MAGED1 MAGE family member D1 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:736331 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 12256254 MAGED1 MAGE family member D1 gene DOID:12849 autistic disorder ISO RGD:736331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12256254 MAGED1 MAGE family member D1 gene DOID:630 genetic disease ISO RGD:736331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256289 TKTL1 transketolase like 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1351621 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12256289 TKTL1 transketolase like 1 gene DOID:0050476 Barth syndrome ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12256289 TKTL1 transketolase like 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 12256289 TKTL1 transketolase like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12256289 TKTL1 transketolase like 1 gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 12256289 TKTL1 transketolase like 1 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 12256289 TKTL1 transketolase like 1 gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 12256289 TKTL1 transketolase like 1 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 12256289 TKTL1 transketolase like 1 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 12256289 TKTL1 transketolase like 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1351621 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12256289 TKTL1 transketolase like 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12256289 TKTL1 transketolase like 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12256289 TKTL1 transketolase like 1 gene DOID:12849 autistic disorder ISO RGD:1351621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12256289 TKTL1 transketolase like 1 gene DOID:13628 favism ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12256289 TKTL1 transketolase like 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1351621 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12256289 TKTL1 transketolase like 1 gene DOID:607 paraplegia ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12256289 TKTL1 transketolase like 1 gene DOID:630 genetic disease ISO RGD:1351621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256289 TKTL1 transketolase like 1 gene DOID:9002720 Splenomegaly ISO RGD:1351621 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12256289 TKTL1 transketolase like 1 gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 12256289 TKTL1 transketolase like 1 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 12256313 FAM135B family with sequence similarity 135 member B gene DOID:630 genetic disease ISO RGD:1606292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256337 CAPN14 calpain 14 gene DOID:13922 eosinophilic esophagitis ISO RGD:1352333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25017104 12256337 CAPN14 calpain 14 gene DOID:13922 eosinophilic esophagitis ISO RGD:1352333 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:25407941|REF_RGD_ID:11100048 12256337 CAPN14 calpain 14 gene DOID:13922 eosinophilic esophagitis ISO RGD:1352333 D RGD:9068941 20200609 RGD mRNA:increased expression:esophagus PMID:25017104|REF_RGD_ID:11100049 12256337 CAPN14 calpain 14 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1352333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532 12256337 CAPN14 calpain 14 gene DOID:630 genetic disease ISO RGD:1352333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256361 PACS1 phosphofurin acidic cluster sorting protein 1 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:735286 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:25741868|PMID:28492532 12256361 PACS1 phosphofurin acidic cluster sorting protein 1 gene DOID:0070047 Schuurs-Hoeijmakers syndrome ISO RGD:735286 D RGD:7240710 20180130 OMIM 12256361 PACS1 phosphofurin acidic cluster sorting protein 1 gene DOID:0070047 Schuurs-Hoeijmakers syndrome ISO RGD:735286 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Schuurs-Hoeijmakers syndrome PMID:17576681|PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396|PMID:9536098 12256361 PACS1 phosphofurin acidic cluster sorting protein 1 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:735286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 12256361 PACS1 phosphofurin acidic cluster sorting protein 1 gene DOID:0110873 holoprosencephaly 9 ISO RGD:735286 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 9 PMID:25741868 12256361 PACS1 phosphofurin acidic cluster sorting protein 1 gene DOID:10487 Hirschsprung's disease ISO RGD:735286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon PMID:28492532 12256361 PACS1 phosphofurin acidic cluster sorting protein 1 gene DOID:1059 intellectual disability ISO RGD:735286 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396 12256361 PACS1 phosphofurin acidic cluster sorting protein 1 gene DOID:10892 hypospadias ISO RGD:735286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:25741868 12256361 PACS1 phosphofurin acidic cluster sorting protein 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:735286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12256361 PACS1 phosphofurin acidic cluster sorting protein 1 gene DOID:2746 glycogen storage disease V ISO RGD:735286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12256361 PACS1 phosphofurin acidic cluster sorting protein 1 gene DOID:303 substance-related disorder ISO RGD:735286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12256361 PACS1 phosphofurin acidic cluster sorting protein 1 gene DOID:3312 bipolar disorder ISO RGD:735286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12256361 PACS1 phosphofurin acidic cluster sorting protein 1 gene DOID:5419 schizophrenia ISO RGD:735286 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12256361 PACS1 phosphofurin acidic cluster sorting protein 1 gene DOID:630 genetic disease ISO RGD:735286 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396|PMID:9536098 12256361 PACS1 phosphofurin acidic cluster sorting protein 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:735286 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12256361 PACS1 phosphofurin acidic cluster sorting protein 1 gene DOID:9004108 Fused Kidney ISO RGD:735286 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Horseshoe kidney PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396 12256361 PACS1 phosphofurin acidic cluster sorting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735286 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396 12256361 PACS1 phosphofurin acidic cluster sorting protein 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:735286 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396 12256361 PACS1 phosphofurin acidic cluster sorting protein 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:735286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12256361 PACS1 phosphofurin acidic cluster sorting protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:735286 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396 12256361 PACS1 phosphofurin acidic cluster sorting protein 1 gene DOID:988 mitral valve prolapse ISO RGD:735286 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mitral valve prolapse PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396 12256361 PACS1 phosphofurin acidic cluster sorting protein 1 gene DOID:9970 obesity ISO RGD:735286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23563609 12256389 DNHD1 dynein heavy chain domain 1 gene DOID:0112354 spermatogenic failure 65 ISO RGD:1601824 D RGD:7240710 20220202 OMIM 12256389 DNHD1 dynein heavy chain domain 1 gene DOID:0112354 spermatogenic failure 65 ISO RGD:1601824 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 65 PMID:25741868|PMID:28492532|PMID:33279834|PMID:34932939 12256389 DNHD1 dynein heavy chain domain 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1601824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12256389 DNHD1 dynein heavy chain domain 1 gene DOID:4450 renal cell carcinoma ISO RGD:1601824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 12256389 DNHD1 dynein heavy chain domain 1 gene DOID:4990 essential tremor ISO RGD:1601824 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:25741868|PMID:28492532|PMID:33279834 12256389 DNHD1 dynein heavy chain domain 1 gene DOID:630 genetic disease ISO RGD:1601824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12256389 DNHD1 dynein heavy chain domain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601824 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: DNHD1-related Neurodevelopmental Disorder 12256389 DNHD1 dynein heavy chain domain 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1601824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12256436 SFI1 SFI1 centrin binding protein gene DOID:630 genetic disease ISO RGD:1347387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256487 SNAP29 synaptosome associated protein 29 gene DOID:0060337 CEDNIK syndrome ISO RGD:735746 D RGD:7240710 20180130 OMIM 12256487 SNAP29 synaptosome associated protein 29 gene DOID:0060337 CEDNIK syndrome ISO RGD:735746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: CEDNIK syndrome PMID:15968592|PMID:19350501|PMID:19896110|PMID:21073448|PMID:23185475|PMID:23231787|PMID:25356970|PMID:25473036|PMID:25741868|PMID:25958742|PMID:26467025|PMID:28388629|PMID:28492532|PMID:31748968|PMID:33422265|PMID:33977139|PMID:35229899 12256487 SNAP29 synaptosome associated protein 29 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:735746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12256487 SNAP29 synaptosome associated protein 29 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:735746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12256487 SNAP29 synaptosome associated protein 29 gene DOID:0060787 hypomyelinating leukodystrophy 2 ISO RGD:735746 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 PMID:15968592|PMID:21073448|PMID:25356970|PMID:25741868|PMID:28492532|PMID:31748968|PMID:33977139 12256487 SNAP29 synaptosome associated protein 29 gene DOID:1059 intellectual disability ISO RGD:735746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12256487 SNAP29 synaptosome associated protein 29 gene DOID:11198 DiGeorge syndrome ISO RGD:735746 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12256487 SNAP29 synaptosome associated protein 29 gene DOID:11372 megacolon ISO RGD:735746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12256487 SNAP29 synaptosome associated protein 29 gene DOID:12583 velocardiofacial syndrome ISO RGD:735746 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12256487 SNAP29 synaptosome associated protein 29 gene DOID:12849 autistic disorder ISO RGD:735746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12256487 SNAP29 synaptosome associated protein 29 gene DOID:1826 epilepsy ISO RGD:735746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12256487 SNAP29 synaptosome associated protein 29 gene DOID:5419 schizophrenia ISO RGD:735746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12256487 SNAP29 synaptosome associated protein 29 gene DOID:612 primary immunodeficiency disease ISO RGD:735746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12256487 SNAP29 synaptosome associated protein 29 gene DOID:630 genetic disease ISO RGD:735746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15968592|PMID:21073448|PMID:25356970|PMID:25741868|PMID:28492532|PMID:31748968|PMID:33977139 12256487 SNAP29 synaptosome associated protein 29 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12256487 SNAP29 synaptosome associated protein 29 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12256487 SNAP29 synaptosome associated protein 29 gene DOID:9007661 Dwarfism ISO RGD:735746 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12256496 TIAM1 TIAM Rac1 associated GEF 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12256496 TIAM1 TIAM Rac1 associated GEF 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1316657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12256496 TIAM1 TIAM Rac1 associated GEF 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12256496 TIAM1 TIAM Rac1 associated GEF 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1316657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27862620 12256496 TIAM1 TIAM Rac1 associated GEF 1 gene DOID:630 genetic disease ISO RGD:1316657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256496 TIAM1 TIAM Rac1 associated GEF 1 gene DOID:9003411 Neurodevelopmental Disorder with Language Delay and Seizures ISO RGD:1316657 D RGD:7240710 20221116 OMIM 12256496 TIAM1 TIAM Rac1 associated GEF 1 gene DOID:9003411 Neurodevelopmental Disorder with Language Delay and Seizures ISO RGD:1316657 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with language delay and seizures PMID:35240055 12256496 TIAM1 TIAM Rac1 associated GEF 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:1316657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27862620 12256539 CLIC6 chloride intracellular channel 6 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:735803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12256539 CLIC6 chloride intracellular channel 6 gene DOID:0060898 Parkinson's disease 20 ISO RGD:735803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12256539 CLIC6 chloride intracellular channel 6 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:735803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12256539 CLIC6 chloride intracellular channel 6 gene DOID:0110648 long QT syndrome 6 ISO RGD:735803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 PMID:21626672|PMID:28492532 12256539 CLIC6 chloride intracellular channel 6 gene DOID:1588 thrombocytopenia ISO RGD:735803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 12256539 CLIC6 chloride intracellular channel 6 gene DOID:2661 myoepithelioma ISO RGD:735803 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12256539 CLIC6 chloride intracellular channel 6 gene DOID:630 genetic disease ISO RGD:735803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256539 CLIC6 chloride intracellular channel 6 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:735803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial thrombocytopenia with propensity to acute myelogenous leukemia PMID:18723428|PMID:24100448|PMID:28492532 12256552 MCTP1 multiple C2 and transmembrane domain containing 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605937 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12256552 MCTP1 multiple C2 and transmembrane domain containing 1 gene DOID:630 genetic disease ISO RGD:1605937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256552 MCTP1 multiple C2 and transmembrane domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12256552 MCTP1 multiple C2 and transmembrane domain containing 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605937 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12256588 UBLCP1 ubiquitin like domain containing CTD phosphatase 1 gene DOID:630 genetic disease ISO RGD:1605293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256588 UBLCP1 ubiquitin like domain containing CTD phosphatase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1605293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12256606 TRIM41 tripartite motif containing 41 gene DOID:630 genetic disease ISO RGD:1318911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256623 KLHL34 kelch like family member 34 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12256623 KLHL34 kelch like family member 34 gene DOID:12849 autistic disorder ISO RGD:1603872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12256623 KLHL34 kelch like family member 34 gene DOID:630 genetic disease ISO RGD:1603872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256623 KLHL34 kelch like family member 34 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0050696 fetal alcohol spectrum disorder treatment ISO RGD:2738 D RGD:9068941 20200609 RGD PMID:22037411|PMID:23763370|REF_RGD_ID:13210751|REF_RGD_ID:13432044 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0060041 autism spectrum disorder ISO RGD:731079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:731079 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:731079 D RGD:7240710 20180130 OMIM 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:731079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:16199547|PMID:16537520|PMID:17576681|PMID:18414213|PMID:19874789|PMID:20890276|PMID:22986046|PMID:23033978|PMID:23160955|PMID:23408766|PMID:23934111|PMID:24272827|PMID:24759409|PMID:25326635|PMID:25326637|PMID:25356899|PMID:25741868|PMID:25741869|PMID:26350515|PMID:26467025|PMID:26633542|PMID:27135925|PMID:27353043|PMID:27572814|PMID:27616045|PMID:27818011|PMID:27839871|PMID:28191890|PMID:28283559|PMID:28333917|PMID:28377535|PMID:28440294|PMID:28492532|PMID:28554332|PMID:28708303|PMID:28856709|PMID:28867141|PMID:29681796|PMID:29851452|PMID:30151416|PMID:30217972|PMID:30315573|PMID:30440138|PMID:30564305|PMID:30842224|PMID:31429998|PMID:31623504|PMID:33604570|PMID:34008892|PMID:34160719|PMID:9536098 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:731079 D RGD:7240710 20180130 OMIM 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:731079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 | ClinVar Annotator: match by term: GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder PMID:16199547|PMID:16537520|PMID:17576681|PMID:18414213|PMID:19874789|PMID:20890276|PMID:22986046|PMID:23033978|PMID:23408766|PMID:24272827|PMID:24759409|PMID:24863970|PMID:25326635|PMID:25356899|PMID:25741868|PMID:25741869|PMID:26350515|PMID:26467025|PMID:26633542|PMID:27353043|PMID:27572814|PMID:27616045|PMID:27818011|PMID:27839871|PMID:28191890|PMID:28283559|PMID:28333917|PMID:28377535|PMID:28492532|PMID:28554332|PMID:28708303|PMID:28856709|PMID:28867141|PMID:29681796|PMID:29851452|PMID:30151416|PMID:30217972|PMID:30315573|PMID:30440138|PMID:30564305|PMID:30842224|PMID:31429998|PMID:31623504|PMID:33604570|PMID:34008892|PMID:34160719|PMID:9536098 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:731079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 | ClinVar Annotator: match by term: GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder PMID:16199547|PMID:16537520|PMID:17576681|PMID:18414213|PMID:19874789|PMID:20890276|PMID:22986046|PMID:23033978|PMID:23408766|PMID:24272827|PMID:24759409|PMID:24863970|PMID:25326635|PMID:25356899|PMID:25741868|PMID:25741869|PMID:26350515|PMID:26467025|PMID:26633542|PMID:27353043|PMID:27572814|PMID:27616045|PMID:27818011|PMID:27839871|PMID:28191890|PMID:28283559|PMID:28333917|PMID:28377535|PMID:28440294|PMID:28492532|PMID:28554332|PMID:28708303|PMID:28856709|PMID:28867141|PMID:29681796|PMID:29851452|PMID:30151416|PMID:30217972|PMID:30315573|PMID:30440138|PMID:30564305|PMID:30842224|PMID:31429998|PMID:31623504|PMID:33604570|PMID:34008892|PMID:34160719|PMID:9536098 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10584 retinitis pigmentosa ISO RGD:2738 D RGD:9068941 20200609 RGD protein:decreased expression:outer plexiform layer of retina (rat) PMID:11925013|REF_RGD_ID:13432034 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1059 intellectual disability ISO RGD:731079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:20890276|PMID:23160955|PMID:24272827|PMID:25326637|PMID:25741868|PMID:27818011|PMID:27839871|PMID:28333917|PMID:28377535|PMID:28492532|PMID:28867141 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10652 Alzheimer's disease ISO RGD:731079 D RGD:9068941 20200609 RGD PMID:24156266|REF_RGD_ID:13792688 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10652 Alzheimer's disease ISO RGD:731079 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :rs1806201 (human) PMID:24292895|REF_RGD_ID:13792709 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10652 Alzheimer's disease ISO RGD:731079 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-421C>A (rs3764028) (human) PMID:18983893|REF_RGD_ID:13792713 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10652 Alzheimer's disease no_association ISO RGD:731079 D RGD:9068941 20200609 RGD DNA:SNP: :2664C>T (rs1806201) (human) PMID:24292895|REF_RGD_ID:13792709 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10652 Alzheimer's disease no_association ISO RGD:731079 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon, 3' utr:-200T>G (rs1019385), 2664C>T (rs1806201), 5072G>T (rs890) (human) PMID:18303265|REF_RGD_ID:13792714 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10652 Alzheimer's disease no_association ISO RGD:731079 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-200T>G (rs1019385), -1447T>C, -1497G>A (rs12368476) (human) PMID:18983893|REF_RGD_ID:13792713 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10907 microcephaly ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:2738 D RGD:9068941 20200609 RGD PMID:18571865|REF_RGD_ID:13210768 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:2738 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain (rat) PMID:22777493|REF_RGD_ID:13432033 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:11446 sciatic neuropathy ISO RGD:2738 D RGD:9068941 20200609 RGD PMID:26656067|REF_RGD_ID:13792690 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:11782 astigmatism ISO RGD:731079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Astigmatism PMID:25741868|PMID:28377535|PMID:28492532|PMID:34160719 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:12849 autistic disorder ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:12858 Huntington's disease ISO RGD:10687 D RGD:9068941 20200609 RGD PMID:17409241|REF_RGD_ID:13432195 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:12858 Huntington's disease onset ISO RGD:731079 D RGD:9068941 20200609 RGD DNA:SNP: :2664C>T (rs1806201) (human) PMID:17569088|REF_RGD_ID:13432554 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:12858 Huntington's disease onset ISO RGD:731079 D RGD:9068941 20200609 RGD DNA:SNPs: :2664C>T (rs1806201), 5072T>G (rs890) (human) PMID:15742215|REF_RGD_ID:13432556 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1561 cognitive disorder ISO RGD:2738 D RGD:9068941 20200609 RGD associated with Fetal Hypoxia;mRNA, protein:decreased expression:hippocampus PMID:26656067|REF_RGD_ID:13792690 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1574 alcohol use disorder ISO RGD:731079 D RGD:9068941 20200609 RGD PMID:14573320|PMID:16911840|REF_RGD_ID:1642200|REF_RGD_ID:1642372 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1826 epilepsy ISO RGD:731079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:25741868|PMID:27818011|PMID:28333917|PMID:28377535|PMID:28492532|PMID:28867141 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1969 cerebral palsy ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868|PMID:28492532 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:2538 Landau-Kleffner syndrome ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:25741868 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:3312 bipolar disorder ISO RGD:731079 D RGD:9068941 20200609 RGD DNA:polymorphism:multiple PMID:16549338|REF_RGD_ID:1642201 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:3328 temporal lobe epilepsy ISO RGD:731079 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus pyramidal layer (human) PMID:9761317|REF_RGD_ID:13432039 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:3891 placental insufficiency ISO RGD:2738 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:19144756|REF_RGD_ID:2326049 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:4377 egg allergy ISO RGD:2738 D RGD:9068941 20200609 RGD protein:increased expression:brain, cingulate cortex (rat) PMID:19208366|REF_RGD_ID:2326032 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:535 sleep disorder ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sleep disturbance PMID:25741868 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:5419 schizophrenia ISO RGD:2738 D RGD:9068941 20200609 RGD PMID:28628228|REF_RGD_ID:13792717 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:5419 schizophrenia ISO RGD:731079 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:5419 schizophrenia ISO RGD:731079 D RGD:9068941 20200609 RGD PMID:17224684|REF_RGD_ID:1642197 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:5419 schizophrenia ISO RGD:731079 D RGD:9068941 20200609 RGD DNA:polymorphism:multiple PMID:16549338|REF_RGD_ID:1642201 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:543 dystonia ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal dystonia PMID:25741868 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:630 genetic disease ISO RGD:731079 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12738960|PMID:16157279|PMID:18414213|PMID:19874789|PMID:20890276|PMID:22986046|PMID:23020937|PMID:23160955|PMID:23408766|PMID:23478024|PMID:23934111|PMID:24272827|PMID:25326635|PMID:25356899|PMID:25363768|PMID:25741868|PMID:26467025|PMID:26633542|PMID:27135925|PMID:27818011|PMID:27839871|PMID:28191890|PMID:28377535|PMID:28492532|PMID:28856709|PMID:29655203|PMID:30217972|PMID:34008892 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:8725 vascular dementia severity ISO RGD:731079 D RGD:9068941 20200609 RGD PMID:25261450|REF_RGD_ID:13792687 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9001793 Generalized Epilepsy ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9002211 Hyperalgesia ISO RGD:731079 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20042082 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9002211 Hyperalgesia treatment ISO RGD:2738 D RGD:9068941 20200609 RGD PMID:24204988|REF_RGD_ID:13210755 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:2738 D RGD:9068941 20200609 RGD PMID:20423831|REF_RGD_ID:13210763 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9002669 Hypoxia treatment ISO RGD:2738 D RGD:9068941 20200609 RGD associated with Hypercapnia PMID:24718106|REF_RGD_ID:13210749 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2738 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus (rat) PMID:19761817|REF_RGD_ID:2325954 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9004009 Reperfusion Injury ISO RGD:2738 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cerebral cortex, hippocampus (rat) PMID:20350575|REF_RGD_ID:2325867 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731079 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9004866 Ataxia ISO RGD:731079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Dyssynergia PMID:25741868|PMID:27818011|PMID:28333917|PMID:28377535|PMID:28492532|PMID:28867141 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9005077 Joint Instability ISO RGD:731079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:25741868|PMID:28377535|PMID:28492532|PMID:34160719 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9005603 Muscle Hypotonia ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:25741868 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2738 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebellum (rat) PMID:20056114|REF_RGD_ID:4107025 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9006024 Hypotension ISO RGD:731079 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18639534 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9006062 Nervous System Trauma ISO RGD:2738 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord dorsal horn (rat) PMID:20079352|REF_RGD_ID:4107024 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:731079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:23020937|PMID:24272827|PMID:25326635|PMID:25356899|PMID:25741868|PMID:26350515|PMID:27572814|PMID:27839871|PMID:28191890|PMID:28377535|PMID:28492532|PMID:28856709|PMID:29681796|PMID:30217972|PMID:30440138|PMID:30842224|PMID:31429998|PMID:34008892 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9007980 Sleep Deprivation ISO RGD:2738 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus (rat) PMID:20237303|REF_RGD_ID:4107020 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9008086 Developmental Disabilities ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741871 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9008582 Developmental Disease ISO RGD:731079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:26350515|PMID:28377535|PMID:28492532|PMID:30842224 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:2738 D RGD:9068941 20200609 RGD PMID:25457025|REF_RGD_ID:13792697 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9281 phenylketonuria ISO RGD:10687 D RGD:9068941 20200609 RGD protein:decreased expression:forebrain (mouse) PMID:16153867|REF_RGD_ID:13210766 12256628 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9993 hypoglycemia ISO RGD:2738 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebellum (rat) PMID:20056114|REF_RGD_ID:4107025 12256662 CAMK1D calcium/calmodulin dependent protein kinase ID gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1603628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12256662 CAMK1D calcium/calmodulin dependent protein kinase ID gene DOID:1070 primary open angle glaucoma ISO RGD:1603628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:28492532 12256662 CAMK1D calcium/calmodulin dependent protein kinase ID gene DOID:630 genetic disease ISO RGD:1603628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256681 MSRB3 methionine sulfoxide reductase B3 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1351511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:19650862|PMID:21185009|PMID:30303587 12256681 MSRB3 methionine sulfoxide reductase B3 gene DOID:0110523 autosomal recessive nonsyndromic deafness 74 ISO RGD:1351511 D RGD:7240710 20180130 OMIM 12256681 MSRB3 methionine sulfoxide reductase B3 gene DOID:0110523 autosomal recessive nonsyndromic deafness 74 ISO RGD:1351511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 74 PMID:19650862|PMID:21185009|PMID:25741868|PMID:30303587 12256681 MSRB3 methionine sulfoxide reductase B3 gene DOID:630 genetic disease ISO RGD:1351511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:26467025|PMID:28492532 12256681 MSRB3 methionine sulfoxide reductase B3 gene DOID:9004538 Hearing Loss ISO RGD:1351511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing loss PMID:24033266 12256691 HIF1AN hypoxia inducible factor 1 subunit alpha inhibitor gene DOID:0090006 renal coloboma syndrome ISO RGD:1317966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal coloboma syndrome PMID:11461952|PMID:24676634|PMID:28492532 12256691 HIF1AN hypoxia inducible factor 1 subunit alpha inhibitor gene DOID:630 genetic disease ISO RGD:1317966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256711 FES FES proto-oncogene, tyrosine kinase gene DOID:0050671 female breast cancer onset ISO RGD:1319653 D RGD:9068941 20220811 RGD PMID:15867340|REF_RGD_ID:153323296 12256711 FES FES proto-oncogene, tyrosine kinase gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1319652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12256711 FES FES proto-oncogene, tyrosine kinase gene DOID:2717 Bloom syndrome ISO RGD:1319652 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12256711 FES FES proto-oncogene, tyrosine kinase gene DOID:3393 coronary artery disease ISO RGD:1319652 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 12256711 FES FES proto-oncogene, tyrosine kinase gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:1319652 D RGD:9068941 20220811 RGD DNA:hypermethylation: (human) PMID:24936140|REF_RGD_ID:153323298 12256711 FES FES proto-oncogene, tyrosine kinase gene DOID:3910 lung adenocarcinoma treatment ISO RGD:1319652 D RGD:9068941 20220811 RGD human cells in a mouse model PMID:31573955|REF_RGD_ID:153323295 12256711 FES FES proto-oncogene, tyrosine kinase gene DOID:630 genetic disease ISO RGD:1319652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256711 FES FES proto-oncogene, tyrosine kinase gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1319652 D RGD:9068941 20220811 RGD DNA:hypermethylation:promoter (human) PMID:31038805|REF_RGD_ID:153323297 12256734 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1316586 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12256734 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:2773 contact dermatitis ISO RGD:1316586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12256734 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:2841 asthma ISO RGD:1316586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21150878 12256734 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:289 endometriosis ISO RGD:1316586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12256734 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:303 substance-related disorder ISO RGD:1316586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12256734 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:5082 liver cirrhosis ISO RGD:1316586 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:33069761 12256734 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:630 genetic disease ISO RGD:1316586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256734 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:684 hepatocellular carcinoma ISO RGD:1316586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12256734 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12256734 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:9005172 Lung Neoplasms ISO RGD:1316586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20562917 12256734 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316586 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12256742 COMMD4 COMM domain containing 4 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1314525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 12256742 COMMD4 COMM domain containing 4 gene DOID:1826 epilepsy ISO RGD:1314525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12256742 COMMD4 COMM domain containing 4 gene DOID:2717 Bloom syndrome ISO RGD:1314525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12256742 COMMD4 COMM domain containing 4 gene DOID:5419 schizophrenia ISO RGD:1314525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12256742 COMMD4 COMM domain containing 4 gene DOID:630 genetic disease ISO RGD:1314525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256742 COMMD4 COMM domain containing 4 gene DOID:9256 colorectal cancer ISO RGD:1314525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12256763 LOC100685649 cornifin-A gene DOID:0111940 immunodeficiency 42 ISO RGD:1354373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12256763 LOC100685649 cornifin-A gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1354373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12256763 LOC100685649 cornifin-A gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1354373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12256763 LOC100685649 cornifin-A gene DOID:1540 parathyroid carcinoma ISO RGD:1354373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12256763 LOC100685649 cornifin-A gene DOID:5812 MHC class II deficiency ISO RGD:1354373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12256763 LOC100685649 cornifin-A gene DOID:630 genetic disease ISO RGD:1354373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256763 LOC100685649 cornifin-A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12256784 MED7 mediator complex subunit 7 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1321085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 12256784 MED7 mediator complex subunit 7 gene DOID:630 genetic disease ISO RGD:1321085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256805 ETFB electron transfer flavoprotein subunit beta gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1604242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:16510302|PMID:23785301|PMID:28492532 12256805 ETFB electron transfer flavoprotein subunit beta gene DOID:0080600 COVID-19 ISO RGD:1604242 D RGD:9068941 20211015 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12256805 ETFB electron transfer flavoprotein subunit beta gene DOID:630 genetic disease ISO RGD:1604242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256847 TRDN triadin gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:735791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:21520333|PMID:22406018|PMID:22422768|PMID:22909776|PMID:23035052|PMID:24033266|PMID:25326635|PMID:25640679|PMID:25650408|PMID:25741868|PMID:25922419|PMID:26200674|PMID:26768964|PMID:28492532|PMID:30649896|PMID:31437535|PMID:9536098 12256847 TRDN triadin gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:735791 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:21520333|PMID:22406018|PMID:22422768|PMID:23035052|PMID:24025405|PMID:24033266|PMID:25326635|PMID:25650408|PMID:25741868|PMID:25922419|PMID:26200674|PMID:26768964|PMID:27538377|PMID:28341588|PMID:28492532|PMID:30649896|PMID:30847666|PMID:31589614|PMID:31847883|PMID:31980526|PMID:32746448|PMID:33432171|PMID:33895855|PMID:9536098 12256847 TRDN triadin gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:735791 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:16199547|PMID:17576681|PMID:21520333|PMID:22422768|PMID:23035052|PMID:24025405|PMID:24033266|PMID:25326635|PMID:25640679|PMID:25650408|PMID:25741868|PMID:25922419|PMID:26200674|PMID:26768964|PMID:27538377|PMID:28341588|PMID:28492532|PMID:30649896|PMID:30847666|PMID:31437535|PMID:31589614|PMID:31847883|PMID:31980526|PMID:32746448|PMID:33432171|PMID:33895855|PMID:9536098 12256847 TRDN triadin gene DOID:0060679 catecholaminergic polymorphic ventricular tachycardia 5 ISO RGD:735791 D RGD:7240710 20180130 OMIM 12256847 TRDN triadin gene DOID:0060679 catecholaminergic polymorphic ventricular tachycardia 5 ISO RGD:735791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIAC ARRHYTHMIA SYNDROME, WITH OR WITHOUT SKELETAL MUSCLE WEAKNESS | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 5 PMID:16199547|PMID:17576681|PMID:22422768|PMID:24025405|PMID:24033266|PMID:25326635|PMID:25741868|PMID:25922419|PMID:26200674|PMID:26768964|PMID:27538377|PMID:28341588|PMID:28492532|PMID:30847666|PMID:31437535|PMID:31589614|PMID:31847883|PMID:31980526|PMID:32746448|PMID:33432171|PMID:9536098 12256847 TRDN triadin gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:735791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25650408|PMID:25741868|PMID:28492532 12256847 TRDN triadin gene DOID:12930 dilated cardiomyopathy ISO RGD:735791 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:17400717|REF_RGD_ID:7327229 12256847 TRDN triadin gene DOID:1826 epilepsy ISO RGD:735791 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12256847 TRDN triadin gene DOID:630 genetic disease ISO RGD:735791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12256847 TRDN triadin gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:735791 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia PMID:28492532 12256847 TRDN triadin gene DOID:9775 diastolic heart failure ISO RGD:735791 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12256890 C10H2orf73 chromosome 10 C2orf73 homolog gene DOID:630 genetic disease ISO RGD:1603909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256904 ARID5B AT-rich interaction domain 5B gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1323345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12256904 ARID5B AT-rich interaction domain 5B gene DOID:12361 Graves' disease ISO RGD:1323345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 12256904 ARID5B AT-rich interaction domain 5B gene DOID:630 genetic disease ISO RGD:1323345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256904 ARID5B AT-rich interaction domain 5B gene DOID:7148 rheumatoid arthritis ISO RGD:1323345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963|PMID:23143596 12256904 ARID5B AT-rich interaction domain 5B gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1323345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24712521 12256904 ARID5B AT-rich interaction domain 5B gene DOID:9008086 Developmental Disabilities ISO RGD:1323345 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12256904 ARID5B AT-rich interaction domain 5B gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1323345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19684603|PMID:19684604 12256921 DDX25 DEAD-box helicase 25 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1353633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12256921 DDX25 DEAD-box helicase 25 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1353633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12256921 DDX25 DEAD-box helicase 25 gene DOID:14227 azoospermia ISO RGD:1353633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 12256921 DDX25 DEAD-box helicase 25 gene DOID:5419 schizophrenia ISO RGD:1353633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12256921 DDX25 DEAD-box helicase 25 gene DOID:630 genetic disease ISO RGD:1353633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256921 DDX25 DEAD-box helicase 25 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1353633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12256921 DDX25 DEAD-box helicase 25 gene DOID:9007661 Dwarfism ISO RGD:1353633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12256940 AGR2 anterior gradient 2, protein disulphide isomerase family member gene DOID:1612 breast cancer disease_progression ISO RGD:1312142 D RGD:9068941 20200609 RGD PMID:16598187|REF_RGD_ID:2325661 12256940 AGR2 anterior gradient 2, protein disulphide isomerase family member gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:1312142 D RGD:9068941 20200716 RGD protein:increased expression:pancreas PMID:19714807|REF_RGD_ID:2325658 12256940 AGR2 anterior gradient 2, protein disulphide isomerase family member gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1312142 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:19609859|REF_RGD_ID:2325659 12256940 AGR2 anterior gradient 2, protein disulphide isomerase family member gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12256940 AGR2 anterior gradient 2, protein disulphide isomerase family member gene DOID:630 genetic disease ISO RGD:1312142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256940 AGR2 anterior gradient 2, protein disulphide isomerase family member gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:25237833 12256940 AGR2 anterior gradient 2, protein disulphide isomerase family member gene DOID:9004078 Pancreatic Intraepithelial Neoplasia ISO RGD:1312142 D RGD:9068941 20200716 RGD protein:increased expression:pancreas PMID:19714807|REF_RGD_ID:2325658 12256940 AGR2 anterior gradient 2, protein disulphide isomerase family member gene DOID:9005186 RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA ISO RGD:1312142 D RGD:7240710 20230517 OMIM 12256940 AGR2 anterior gradient 2, protein disulphide isomerase family member gene DOID:9005186 RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA ISO RGD:1312142 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Respiratory infections, recurrent, and failure to thrive with or without diarrhea PMID:34952832 12256940 AGR2 anterior gradient 2, protein disulphide isomerase family member gene DOID:9008939 Breast Neoplasms ISO RGD:1312142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20531310 12256961 CNTN6 contactin 6 gene DOID:0060041 autism spectrum disorder ISO RGD:733383 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23872404|PMID:25606055|PMID:25741868|PMID:26257835|PMID:30826922 12256961 CNTN6 contactin 6 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:733383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12256961 CNTN6 contactin 6 gene DOID:12849 autistic disorder ISO RGD:733383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:21681106|PMID:30208311 12256961 CNTN6 contactin 6 gene DOID:5419 schizophrenia ISO RGD:733383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12256961 CNTN6 contactin 6 gene DOID:630 genetic disease ISO RGD:733383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12256961 CNTN6 contactin 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:0050651 atrioventricular septal defect ISO RGD:1323630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect PMID:25741868|PMID:28492532 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:0050834 CHARGE syndrome ISO RGD:1323630 D RGD:7240710 20180130 OMIM 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:0050834 CHARGE syndrome ISO RGD:1323630 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CHARGE association | ClinVar Annotator: match by term: Hall-Hittner syndrome PMID:10590394|PMID:14626219|PMID:15300250|PMID:15666308|PMID:16155193|PMID:16169932|PMID:16199547|PMID:16400610|PMID:16615981|PMID:16763960|PMID:17253929|PMID:17299439|PMID:17334995|PMID:17576681|PMID:17661815|PMID:17684005|PMID:17937444|PMID:18073582|PMID:18074359|PMID:18089695|PMID:18413373|PMID:18414213|PMID:18445044|PMID:18484313|PMID:18505430|PMID:18834967|PMID:18978652|PMID:19021638|PMID:19112063|PMID:19763152|PMID:19772954|PMID:20130577|PMID:20186815|PMID:20301296|PMID:20307669|PMID:20453063|PMID:20624498|PMID:20884005|PMID:21041284|PMID:21158681|PMID:21196067|PMID:21378379|PMID:21532573|PMID:21554267|PMID:21856375|PMID:21931733|PMID:21995344|PMID:22033296|PMID:22035731|PMID:22258531|PMID:22399515|PMID:22406018|PMID:22461308|PMID:22462537|PMID:22495309|PMID:22539353|PMID:22902603|PMID:23024289|PMID:23378218|PMID:23526466|PMID:23533228|PMID:23806086|PMID:23849776|PMID:23883829|PMID:23885230|PMID:23956205|PMID:24033266|PMID:24088041|PMID:24368733|PMID:24755471|PMID:24819706|PMID:24862881|PMID:24979395|PMID:25064402|PMID:25077900|PMID:25326635|PMID:25326637|PMID:25383892|PMID:25472840|PMID:25741868|PMID:25931334|PMID:26141714|PMID:26436962|PMID:26467025|PMID:26538304|PMID:26544072|PMID:26590800|PMID:26663670|PMID:26666243|PMID:26785492|PMID:26813943|PMID:26929907|PMID:26986878|PMID:27061523|PMID:27562378|PMID:27832265|PMID:27884173|PMID:27884859|PMID:27899157|PMID:28166811|PMID:28191889|PMID:28475860|PMID:28492532|PMID:28554332|PMID:28832562|PMID:28991257|PMID:29152903|PMID:29178447|PMID:29255181|PMID:29255276|PMID:29300383|PMID:29304373|PMID:29355723|PMID:29419413|PMID:30029678|PMID:30293987|PMID:30311386|PMID:30653986|PMID:30733481|PMID:30828794|PMID:31019026|PMID:31042289|PMID:31043788|PMID:31130284|PMID:31146700|PMID:31289371|PMID:31395954|PMID:31501239|PMID:31564432|PMID:31689711|PMID:31729160|PMID:32185379|PMID:32804436|PMID:32851286|PMID:32870266|PMID:33184947|PMID:33502061|PMID:7651832|PMID:9536098 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:0060041 autism spectrum disorder ISO RGD:1323630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:0060225 3MC syndrome ISO RGD:1323630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3MC syndrome PMID:21554267|PMID:28492532 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:0060249 scoliosis ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:0060250 idiopathic scoliosis ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 3 PMID:17436250|PMID:23883829|PMID:25741868 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1323630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:15300250|PMID:16155193|PMID:18073582|PMID:20884005|PMID:21158681|PMID:22539353|PMID:25472840|PMID:25741868|PMID:28492532 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia ISO RGD:1323630 D RGD:7240710 20180130 OMIM 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia ISO RGD:1323630 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia PMID:15300250|PMID:16155193|PMID:16400610|PMID:16615981|PMID:16763960|PMID:17576681|PMID:18073582|PMID:18074359|PMID:18414213|PMID:18445044|PMID:18834967|PMID:21158681|PMID:21931733|PMID:21995344|PMID:22033296|PMID:22461308|PMID:22539353|PMID:23378218|PMID:23533228|PMID:23885230|PMID:24033266|PMID:24862881|PMID:25077900|PMID:25472840|PMID:25741868|PMID:25931334|PMID:26467025|PMID:26929907|PMID:27884173|PMID:27899157|PMID:28492532|PMID:29255181|PMID:29255276|PMID:29419413|PMID:30311386|PMID:31042289|PMID:32870266|PMID:9536098 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:1059 intellectual disability ISO RGD:1323630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25472840|PMID:25741868|PMID:28492532|PMID:30029678 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:10907 microcephaly ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:11830 myopia ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:13938 amenorrhea ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:18414213|PMID:21158681|PMID:22539353|PMID:24033266|PMID:25077900|PMID:25741868|PMID:28492532|PMID:32870266 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:14448 46,XY sex reversal ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY PMID:25741868|PMID:33189935 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:1459 hypothyroidism ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:25741868 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:1882 atrial heart septal defect ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:1921 Klinefelter syndrome ISO RGD:1323630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:15300250|PMID:16155193|PMID:18073582|PMID:20884005|PMID:21158681|PMID:22539353|PMID:25472840|PMID:25741868|PMID:28492532 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:3614 Kallmann syndrome ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadism with anosmia PMID:18414213|PMID:18445044|PMID:21158681|PMID:22461308|PMID:24033266|PMID:25077900|PMID:25741868|PMID:26467025|PMID:28475860|PMID:28492532|PMID:29304373 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:5426 primary ovarian insufficiency ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:24033266|PMID:25741868|PMID:28492532|PMID:31042289 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:630 genetic disease ISO RGD:1323630 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:10590394|PMID:14626219|PMID:15300250|PMID:15666308|PMID:16155193|PMID:16400610|PMID:16615981|PMID:16763960|PMID:17299439|PMID:17576681|PMID:17661815|PMID:17684005|PMID:18073582|PMID:18089695|PMID:18414213|PMID:18445044|PMID:18505430|PMID:18834967|PMID:19112063|PMID:20130577|PMID:20186815|PMID:20884005|PMID:21158681|PMID:21378379|PMID:21532573|PMID:21554267|PMID:21931733|PMID:21995344|PMID:22033296|PMID:22461308|PMID:22462537|PMID:22495309|PMID:22539353|PMID:23378218|PMID:23526466|PMID:23533228|PMID:23849776|PMID:23883829|PMID:23885230|PMID:24033266|PMID:24840056|PMID:24862881|PMID:25077900|PMID:25356970|PMID:25472840|PMID:25741868|PMID:25931334|PMID:26436962|PMID:26467025|PMID:26538304|PMID:26544072|PMID:26590800|PMID:26663670|PMID:26813943|PMID:27562378|PMID:27884173|PMID:27884859|PMID:27899157|PMID:28475860|PMID:28492532|PMID:29255181|PMID:29255276|PMID:29300383|PMID:29304373|PMID:30311386|PMID:31042289|PMID:32870266|PMID:7651832|PMID:9326634|PMID:9536098 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:630 genetic disease ISO RGD:1323630 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10590394|PMID:14626219|PMID:15300250|PMID:15666308|PMID:16155193|PMID:16400610|PMID:16615981|PMID:16763960|PMID:17299439|PMID:17576681|PMID:17661815|PMID:17684005|PMID:18073582|PMID:18089695|PMID:18414213|PMID:18445044|PMID:18505430|PMID:18834967|PMID:19112063|PMID:20130577|PMID:20186815|PMID:20453063|PMID:20624498|PMID:20884005|PMID:21158681|PMID:21378379|PMID:21532573|PMID:21554267|PMID:21931733|PMID:21995344|PMID:22033296|PMID:22461308|PMID:22462537|PMID:22495309|PMID:22539353|PMID:23024289|PMID:23378218|PMID:23526466|PMID:23533228|PMID:23849776|PMID:23883829|PMID:23885230|PMID:24033266|PMID:24368733|PMID:24840056|PMID:24862881|PMID:25077900|PMID:25356970|PMID:25472840|PMID:25741868|PMID:25931334|PMID:26436962|PMID:26467025|PMID:26538304|PMID:26544072|PMID:26590800|PMID:26663670|PMID:26813943|PMID:27562378|PMID:27884173|PMID:27884859|PMID:27899157|PMID:28166811|PMID:28191889|PMID:28475860|PMID:28492532|PMID:29255181|PMID:29255276|PMID:29300383|PMID:29304373|PMID:29419413|PMID:30311386|PMID:30653986|PMID:31042289|PMID:31395954|PMID:31564432|PMID:31689711|PMID:32185379|PMID:32870266|PMID:35047002|PMID:7651832|PMID:9326634|PMID:9536098 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:9001575 IRIS COLOBOMA ISO RGD:1323630 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Iris coloboma PMID:25741868 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:9002112 Growth Deficiency and Mental Retardation with Facial Dysmorphism ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wiedemann-Steiner syndrome 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:9003232 Kallmann Syndrome 5 ISO RGD:1323630 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Kallmann syndrome 5 PMID:17576681|PMID:18834967|PMID:25741868|PMID:28492532|PMID:29419413|PMID:30311386|PMID:9536098 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:1323630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:9004226 Hittner Hirsch Kreh Syndrome ISO RGD:1323630 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome PMID:17576681|PMID:17661815|PMID:18834967|PMID:25741868|PMID:28492532|PMID:29419413|PMID:30311386|PMID:9536098 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:9004538 Hearing Loss ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 12257001 CHD7 chromodomain helicase DNA binding protein 7 gene DOID:9008582 Developmental Disease ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12257048 NKX2-5 NK2 homeobox 5 gene DOID:0050651 atrioventricular septal defect ISO RGD:1606841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, somatic PMID:15342699|PMID:15917268 12257048 NKX2-5 NK2 homeobox 5 gene DOID:0050820 atrioventricular block ISO RGD:1606841 D RGD:9068941 20200609 RGD DNA:nonsense mutation:exon:p.Y256X (c.768T>A) (human) PMID:16896344|REF_RGD_ID:12914775 12257048 NKX2-5 NK2 homeobox 5 gene DOID:0050822 second-degree atrioventricular block ISO RGD:1606841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular block, idiopathic second-degree PMID:10587520 12257048 NKX2-5 NK2 homeobox 5 gene DOID:0060224 atrial fibrillation ISO RGD:1606841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062060|PMID:29892015|PMID:30061737 12257048 NKX2-5 NK2 homeobox 5 gene DOID:0070125 congenital nongoitrous hypothyroidism 5 ISO RGD:1606841 D RGD:7240710 20180130 OMIM 12257048 NKX2-5 NK2 homeobox 5 gene DOID:0070125 congenital nongoitrous hypothyroidism 5 ISO RGD:1606841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5 PMID:10587520|PMID:10903346|PMID:11714651|PMID:12074273|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15917268|PMID:16418214|PMID:17544441|PMID:17891434|PMID:18414213|PMID:19073351|PMID:19464101|PMID:19533775|PMID:19933292|PMID:19948535|PMID:20456451|PMID:20807224|PMID:21110066|PMID:22920929|PMID:23285148|PMID:23661673|PMID:24033266|PMID:24376681|PMID:25741868|PMID:26805889|PMID:27152669|PMID:27904570|PMID:28166811|PMID:28492532|PMID:28536625|PMID:29368431|PMID:30508507|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884 12257048 NKX2-5 NK2 homeobox 5 gene DOID:0080334 aortic valve disease 2 ISO RGD:1606841 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.Q22K, p.R36S, p.E54K (human) PMID:22179962|REF_RGD_ID:12914791 12257048 NKX2-5 NK2 homeobox 5 gene DOID:0080334 aortic valve disease 2 ISO RGD:1606841 D RGD:9068941 20200609 RGD DNA:nonsense mutation:exon:p.K192X (human) PMID:25438918|REF_RGD_ID:12914790 12257048 NKX2-5 NK2 homeobox 5 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1606841 D RGD:7240710 20180130 OMIM 12257048 NKX2-5 NK2 homeobox 5 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1606841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect 7 with or without atrioventricular conduction defects | ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:10021345|PMID:10587520|PMID:10903346|PMID:10943630|PMID:10948187|PMID:11714651|PMID:12074273|PMID:12112663|PMID:12414819|PMID:1260978|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15342699|PMID:15364612|PMID:15689439|PMID:15810002|PMID:15917268|PMID:16418214|PMID:16896344|PMID:17544441|PMID:17891434|PMID:17891520|PMID:18414213|PMID:18976153|PMID:19073351|PMID:19181906|PMID:19464101|PMID:19533775|PMID:19678963|PMID:19933292|PMID:19948535|PMID:20022124|PMID:20456451|PMID:20725931|PMID:20807224|PMID:20981092|PMID:21091212|PMID:21110066|PMID:21561848|PMID:21677783|PMID:22179962|PMID:22920929|PMID:22995991|PMID:23285148|PMID:23661673|PMID:24033266|PMID:24376681|PMID:24880466|PMID:25028484|PMID:25205790|PMID:25319568|PMID:25741868|PMID:25742962|PMID:26014430|PMID:26146939|PMID:26334177|PMID:26467025|PMID:26805889|PMID:27013732|PMID:27152669|PMID:27788187|PMID:27855642|PMID:27904570|PMID:28166811|PMID:28302382|PMID:28341588|PMID:28455095|PMID:28492532|PMID:28536625|PMID:28690296|PMID:29037160|PMID:29368431|PMID:29568389|PMID:29745128|PMID:30240412|PMID:30354339|PMID:30508507|PMID:30611920|PMID:30982828|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884|PMID:33082984|PMID:33835496|PMID:34214246|PMID:9651244 12257048 NKX2-5 NK2 homeobox 5 gene DOID:0112232 lissencephaly 3 ISO RGD:1606841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation PMID:18414213|PMID:18976153|PMID:19181906|PMID:19464101|PMID:20981092|PMID:22995991|PMID:24033266|PMID:24376681|PMID:25741868|PMID:28492532 12257048 NKX2-5 NK2 homeobox 5 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1606841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 12257048 NKX2-5 NK2 homeobox 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10587520|PMID:25741868|PMID:28492532 12257048 NKX2-5 NK2 homeobox 5 gene DOID:1657 ventricular septal defect ISO RGD:1606841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12257048 NKX2-5 NK2 homeobox 5 gene DOID:1657 ventricular septal defect ISO RGD:1606841 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.P59A (c.175C>G) (human) PMID:21165553|REF_RGD_ID:12914792 12257048 NKX2-5 NK2 homeobox 5 gene DOID:1681 heart septal defect ISO RGD:1606841 D RGD:9068941 20200609 RGD PMID:12112663|REF_RGD_ID:1581130 12257048 NKX2-5 NK2 homeobox 5 gene DOID:1682 congenital heart disease ISO RGD:1606841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital heart disease | ClinVar Annotator: match by term: Heart, malformation of | ClinVar Annotator: match by term: Malformation of the heart and great vessels PMID:10587520|PMID:10903346|PMID:11714651|PMID:12074273|PMID:14607454|PMID:16418214|PMID:17891434|PMID:18414213|PMID:19073351|PMID:19464101|PMID:19533775|PMID:19948535|PMID:20456451|PMID:20807224|PMID:22920929|PMID:24033266|PMID:25741868|PMID:28492532 12257048 NKX2-5 NK2 homeobox 5 gene DOID:1682 congenital heart disease no_association ISO RGD:1606841 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.A119S (human) PMID:23285148|REF_RGD_ID:7247738 12257048 NKX2-5 NK2 homeobox 5 gene DOID:1882 atrial heart septal defect ISO RGD:1606841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:10587520|PMID:18414213|PMID:18976153|PMID:19181906|PMID:19464101|PMID:20981092|PMID:22995991|PMID:24033266|PMID:24376681|PMID:25741868|PMID:28492532 12257048 NKX2-5 NK2 homeobox 5 gene DOID:3770 pulmonary fibrosis ISO RGD:620520 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung, fibroblast PMID:19395679|REF_RGD_ID:5131637 12257048 NKX2-5 NK2 homeobox 5 gene DOID:450 myotonic disease ISO RGD:1606841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18084293 12257048 NKX2-5 NK2 homeobox 5 gene DOID:630 genetic disease ISO RGD:1606841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10587520|PMID:11714651|PMID:15689439|PMID:22920929|PMID:25741868|PMID:28166811|PMID:28492532|PMID:34214246 12257048 NKX2-5 NK2 homeobox 5 gene DOID:6419 tetralogy of Fallot ISO RGD:1606841 D RGD:7240710 20180130 OMIM 12257048 NKX2-5 NK2 homeobox 5 gene DOID:6419 tetralogy of Fallot ISO RGD:1606841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot PMID:10587520|PMID:10903346|PMID:11714651|PMID:12074273|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15917268|PMID:16418214|PMID:17544441|PMID:17891434|PMID:18414213|PMID:19073351|PMID:19464101|PMID:19533775|PMID:19933292|PMID:19948535|PMID:20456451|PMID:20807224|PMID:21110066|PMID:22920929|PMID:24033266|PMID:24376681|PMID:25741868|PMID:26805889|PMID:27152669|PMID:27904570|PMID:28166811|PMID:28492532|PMID:28536625|PMID:29368431|PMID:30508507|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884 12257048 NKX2-5 NK2 homeobox 5 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1606841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:10587520|PMID:25741868|PMID:28492532 12257048 NKX2-5 NK2 homeobox 5 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:731878 D RGD:9068941 20200609 RGD PMID:11457872|REF_RGD_ID:12914774 12257048 NKX2-5 NK2 homeobox 5 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1606841 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:14607454|PMID:18414213|PMID:19181906|PMID:22179962|PMID:25741868|PMID:28492532|PMID:31824610|PMID:33835496 12257048 NKX2-5 NK2 homeobox 5 gene DOID:9003006 Ventricular Septal Defect 3 ISO RGD:1606841 D RGD:7240710 20180130 OMIM 12257048 NKX2-5 NK2 homeobox 5 gene DOID:9003006 Ventricular Septal Defect 3 ISO RGD:1606841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ventricular septal defect 3 PMID:10587520|PMID:11714651|PMID:12074273|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15917268|PMID:17544441|PMID:18414213|PMID:19933292|PMID:20659440|PMID:21110066|PMID:21165553|PMID:22920929|PMID:24033266|PMID:24376681|PMID:25741868|PMID:26805889|PMID:27152669|PMID:27904570|PMID:28166811|PMID:28492532|PMID:28536625|PMID:29368431|PMID:30508507|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884 12257048 NKX2-5 NK2 homeobox 5 gene DOID:9003735 Splenic Hypoplasia ISO RGD:1606841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asplenia, isolated congenital PMID:20846672|PMID:22560297|PMID:23579497 12257048 NKX2-5 NK2 homeobox 5 gene DOID:9003936 Cardiomegaly ISO RGD:1606841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28973413 12257048 NKX2-5 NK2 homeobox 5 gene DOID:9005839 Hypoplastic Left Heart Syndrome 2 ISO RGD:1606841 D RGD:7240710 20180130 OMIM 12257048 NKX2-5 NK2 homeobox 5 gene DOID:9005839 Hypoplastic Left Heart Syndrome 2 ISO RGD:1606841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome 2 PMID:10587520|PMID:10903346|PMID:11714651|PMID:12074273|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15917268|PMID:16418214|PMID:17544441|PMID:17891434|PMID:18414213|PMID:19073351|PMID:19464101|PMID:19533775|PMID:19933292|PMID:19948535|PMID:20456451|PMID:20807224|PMID:21110066|PMID:22920929|PMID:24033266|PMID:24376681|PMID:25741868|PMID:26805889|PMID:27152669|PMID:27904570|PMID:28166811|PMID:28492532|PMID:28536625|PMID:29368431|PMID:30508507|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884 12257048 NKX2-5 NK2 homeobox 5 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:1606841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:10021345|PMID:10587520|PMID:10903346|PMID:10943630|PMID:10948187|PMID:11714651|PMID:12074273|PMID:12112663|PMID:12414819|PMID:1260978|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15342699|PMID:15364612|PMID:15689439|PMID:15810002|PMID:15917268|PMID:16418214|PMID:16896344|PMID:17544441|PMID:17891434|PMID:17891520|PMID:18414213|PMID:18976153|PMID:19073351|PMID:19181906|PMID:19464101|PMID:19533775|PMID:19678963|PMID:19933292|PMID:19948535|PMID:20022124|PMID:20456451|PMID:20725931|PMID:20807224|PMID:20981092|PMID:21091212|PMID:21110066|PMID:21561848|PMID:21677783|PMID:22179962|PMID:22920929|PMID:22995991|PMID:23285148|PMID:23661673|PMID:24033266|PMID:24376681|PMID:24880466|PMID:25028484|PMID:25205790|PMID:25319568|PMID:25741868|PMID:25742962|PMID:26014430|PMID:26146939|PMID:26334177|PMID:26467025|PMID:26805889|PMID:27013732|PMID:27152669|PMID:27788187|PMID:27855642|PMID:27904570|PMID:28166811|PMID:28302382|PMID:28341588|PMID:28455095|PMID:28492532|PMID:28536625|PMID:28690296|PMID:29037160|PMID:29368431|PMID:29568389|PMID:29745128|PMID:30240412|PMID:30354339|PMID:30508507|PMID:30611920|PMID:30982828|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884|PMID:33082984|PMID:33835496|PMID:34214246|PMID:9651244 12257048 NKX2-5 NK2 homeobox 5 gene DOID:9007096 Stroke ISO RGD:1606841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 12257048 NKX2-5 NK2 homeobox 5 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1606841 D RGD:7240710 20180530 OMIM 12257048 NKX2-5 NK2 homeobox 5 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1606841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis PMID:10587520|PMID:10903346|PMID:11714651|PMID:12074273|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15917268|PMID:16418214|PMID:17544441|PMID:17891434|PMID:18414213|PMID:19073351|PMID:19464101|PMID:19533775|PMID:19933292|PMID:19948535|PMID:20456451|PMID:20807224|PMID:21110066|PMID:22920929|PMID:24033266|PMID:24376681|PMID:25741868|PMID:26805889|PMID:27152669|PMID:27904570|PMID:28492532|PMID:28536625|PMID:29368431|PMID:30508507|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884 12257048 NKX2-5 NK2 homeobox 5 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1606841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis PMID:10587520|PMID:10903346|PMID:11714651|PMID:12074273|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15917268|PMID:16418214|PMID:17544441|PMID:17891434|PMID:18414213|PMID:19073351|PMID:19464101|PMID:19533775|PMID:19933292|PMID:19948535|PMID:20456451|PMID:20807224|PMID:21110066|PMID:22920929|PMID:24033266|PMID:24376681|PMID:25741868|PMID:26805889|PMID:27152669|PMID:27904570|PMID:28166811|PMID:28492532|PMID:28536625|PMID:29368431|PMID:30508507|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884 12257048 NKX2-5 NK2 homeobox 5 gene DOID:9008306 Common Ventricle ISO RGD:1606841 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Single ventricle PMID:19948535|PMID:23285148|PMID:25742962|PMID:28492532|PMID:29037160|PMID:30611920 12257048 NKX2-5 NK2 homeobox 5 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1606841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12257048 NKX2-5 NK2 homeobox 5 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:731878 D RGD:9068941 20220825 MouseDO OMIM:241550 | OMIM:614435 12257063 TLK2 tousled like kinase 2 gene DOID:1059 intellectual disability ISO RGD:1322082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:31558842 12257063 TLK2 tousled like kinase 2 gene DOID:12849 autistic disorder ISO RGD:1322082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12257063 TLK2 tousled like kinase 2 gene DOID:630 genetic disease ISO RGD:1322082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257063 TLK2 tousled like kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12257063 TLK2 tousled like kinase 2 gene DOID:9006249 RADIO-TARTAGLIA SYNDROME ISO RGD:1322082 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Radio-Tartaglia syndrome PMID:25741868 12257063 TLK2 tousled like kinase 2 gene DOID:9008582 Developmental Disease ISO RGD:1322082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12257063 TLK2 tousled like kinase 2 gene DOID:9009194 Autosomal Dominant Intellectual Developmental Disorder 57 ISO RGD:1322082 D RGD:7240710 20190315 OMIM 12257063 TLK2 tousled like kinase 2 gene DOID:9009194 Autosomal Dominant Intellectual Developmental Disorder 57 ISO RGD:1322082 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 57 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 57 | ClinVar Annotator: match by term: TLK2-related neurodevelopmental disorder PMID:25741868|PMID:25741869|PMID:27479843|PMID:28492532|PMID:29861108|PMID:34821460 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:736367 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10545530|PMID:10545531|PMID:10720084|PMID:11022198|PMID:11270685|PMID:11315851|PMID:11772903|PMID:11914043|PMID:11978663|PMID:12618559|PMID:14764823|PMID:15001545|PMID:15170499|PMID:15277425|PMID:15754742|PMID:15883474|PMID:16092045|PMID:16741735|PMID:17126328|PMID:17592437|PMID:19228875|PMID:19496967|PMID:19515026|PMID:19817786|PMID:19855005|PMID:20621032|PMID:21569088|PMID:23331010|PMID:24097065|PMID:24464100|PMID:25041077|PMID:25741868|PMID:26058934|PMID:26287533|PMID:26467025|PMID:27386488|PMID:27535533|PMID:27879211|PMID:27884173|PMID:28095440|PMID:28436541|PMID:28492532|PMID:28609558|PMID:29396371|PMID:29439679|PMID:30709774|PMID:30930126|PMID:31366392|PMID:34988346|PMID:8506821|PMID:8988180|PMID:9326926|PMID:9649577 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:0050877 pancreatic agenesis ISO RGD:736367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pancreatic hypoplasia PMID:10720084|PMID:11270685|PMID:11772903|PMID:11978663|PMID:14764823|PMID:15001545|PMID:15883474|PMID:15885879|PMID:19228875|PMID:19817786|PMID:19855005|PMID:21569088|PMID:24033266|PMID:24097065|PMID:24464100|PMID:25741868|PMID:26059258|PMID:26287533|PMID:26467025|PMID:27386488|PMID:27420379|PMID:28436541|PMID:28492532|PMID:29396371|PMID:29439679|PMID:31366392|PMID:34988346 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:736367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:12970316|PMID:15001545|PMID:19496967|PMID:20009086|PMID:20621032|PMID:25741868|PMID:26467025|PMID:28436541|PMID:28492532|PMID:8506821|PMID:8988180|PMID:9326926|PMID:9649577 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:62387 D RGD:9068941 20200609 RGD protein:increased expression:epithelial cell of pancreas (rat) PMID:12210084|REF_RGD_ID:2311232 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:736367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10545530|PMID:10545531|PMID:10720084|PMID:11022198|PMID:11270685|PMID:11315851|PMID:11914043|PMID:12618559|PMID:14764823|PMID:15001545|PMID:15170499|PMID:15277425|PMID:15754742|PMID:16092045|PMID:16741735|PMID:17126328|PMID:17592437|PMID:19228875|PMID:19515026|PMID:21569088|PMID:24097065|PMID:25041077|PMID:25741868|PMID:26058934|PMID:26467025|PMID:27535533|PMID:27879211|PMID:27879214|PMID:27884173|PMID:28095440|PMID:28492532|PMID:28609558|PMID:29439679|PMID:30709774|PMID:30930126 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:0111103 maturity-onset diabetes of the young type 4 ISO RGD:736367 D RGD:7240710 20190315 OMIM 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:0111103 maturity-onset diabetes of the young type 4 ISO RGD:736367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 4 PMID:10545530|PMID:10545531|PMID:10720084|PMID:11022198|PMID:11270685|PMID:11315851|PMID:11772903|PMID:11914043|PMID:11978663|PMID:12618559|PMID:12970316|PMID:14764823|PMID:15001545|PMID:15170499|PMID:15277425|PMID:15754742|PMID:15883474|PMID:16092045|PMID:16741735|PMID:17126328|PMID:17592437|PMID:19228875|PMID:19496967|PMID:19515026|PMID:19817786|PMID:19855005|PMID:20009086|PMID:20621032|PMID:21569088|PMID:24033266|PMID:24097065|PMID:24464100|PMID:25041077|PMID:25741868|PMID:26058934|PMID:26059258|PMID:26287533|PMID:26467025|PMID:27386488|PMID:27420379|PMID:27535533|PMID:27879211|PMID:27879214|PMID:27884173|PMID:28095440|PMID:28436541|PMID:28492532|PMID:28609558|PMID:29396371|PMID:29439679|PMID:30709774|PMID:30930126|PMID:31366392|PMID:32041611|PMID:34135026|PMID:34988346|PMID:8506821|PMID:8988180|PMID:9326926|PMID:9649577 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:11716 prediabetes syndrome ISO RGD:736368 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:pancreas, pancreatic islet (mouse) PMID:17673521|REF_RGD_ID:2311230 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:11717 neonatal diabetes ISO RGD:736367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal diabetes mellitus PMID:25741868|PMID:28492532 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:1793 pancreatic cancer ISO RGD:736367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19077462|PMID:25086665|PMID:26098869 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:3526 cerebral infarction ISO RGD:736367 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome; DNA:duplication:5' utr:-108 3G>4G (human) PMID:18506375|REF_RGD_ID:2311309 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:3891 placental insufficiency ISO RGD:62387 D RGD:9068941 20200609 RGD mRNA:increased expression:placenta (rat) PMID:17893880|REF_RGD_ID:2311215 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:4195 hyperglycemia ISO RGD:62387 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; mRNA, protein:decreased expression:pancreatic islet (rat) PMID:10512364|REF_RGD_ID:2311207 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:4195 hyperglycemia ISO RGD:62387 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet (rat) PMID:12438314|REF_RGD_ID:1600277 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:4195 hyperglycemia ISO RGD:736367 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; (human) PMID:17131142|REF_RGD_ID:2308899 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:4195 hyperglycemia ISO RGD:736368 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; (mouse) PMID:16983179|REF_RGD_ID:2311206 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:4195 hyperglycemia ISO RGD:736368 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:stem cell (mouse) PMID:19245309|REF_RGD_ID:2311204 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9000156 Metaplasia ISO RGD:62387 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreatic acinus (rat) PMID:17003479|REF_RGD_ID:2311231 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:62387 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreas (rat) PMID:12606515|REF_RGD_ID:2311220 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:62387 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet PMID:18464933|REF_RGD_ID:2311214 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9003314 Pancreatic Agenesis 1 ISO RGD:736367 D RGD:7240710 20200226 OMIM 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9003314 Pancreatic Agenesis 1 ISO RGD:736367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PDX1-Related Disorder | ClinVar Annotator: match by term: Pancreatic agenesis 1 PMID:12970316|PMID:15001545|PMID:19496967|PMID:20009086|PMID:20301620|PMID:20621032|PMID:25741868|PMID:26467025|PMID:28436541|PMID:28492532|PMID:8506821|PMID:8988180|PMID:9326926|PMID:9649577 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62387 D RGD:9068941 20200609 RGD PMID:17460716|REF_RGD_ID:2311224 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62387 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (rat) PMID:17235568|REF_RGD_ID:2311225 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62387 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic delta cell (rat) PMID:14988244|REF_RGD_ID:1357906 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736367 D RGD:9068941 20200609 RGD PMID:17226789|REF_RGD_ID:2311311 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736368 D RGD:9068941 20200609 RGD PMID:15561947|REF_RGD_ID:2311226 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9007692 Insulin Resistance ISO RGD:62387 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic duct (rat) PMID:16046294|REF_RGD_ID:2311223 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9007692 Insulin Resistance ISO RGD:736368 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:pancreatic islet (mouse) PMID:18288891|REF_RGD_ID:2311222 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9351 diabetes mellitus ISO RGD:736367 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10545530|PMID:10545531|PMID:10720084|PMID:11022198|PMID:11270685|PMID:11315851|PMID:11772903|PMID:11914043|PMID:11978663|PMID:12618559|PMID:14764823|PMID:15001545|PMID:15170499|PMID:15277425|PMID:15754742|PMID:16092045|PMID:16741735|PMID:17126328|PMID:17592437|PMID:19228875|PMID:19515026|PMID:21569088|PMID:24097065|PMID:24464100|PMID:25041077|PMID:25741868|PMID:26058934|PMID:26287533|PMID:26467025|PMID:27535533|PMID:27879211|PMID:27884173|PMID:28095440|PMID:28492532|PMID:28609558|PMID:29439679|PMID:30709774|PMID:30930126|PMID:34988346 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736367 D RGD:7240710 20190315 OMIM 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736367 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10545530|PMID:10545531|PMID:10720084|PMID:11022198|PMID:11270685|PMID:11315851|PMID:11914043|PMID:12618559|PMID:12970316|PMID:14764823|PMID:15001545|PMID:15170499|PMID:15277425|PMID:15754742|PMID:16092045|PMID:16741735|PMID:17126328|PMID:17592437|PMID:19228875|PMID:19515026|PMID:20301620|PMID:21569088|PMID:24097065|PMID:25041077|PMID:25741868|PMID:26058934|PMID:26467025|PMID:27535533|PMID:27879211|PMID:27879214|PMID:27884173|PMID:28095440|PMID:28492532|PMID:28609558|PMID:29439679|PMID:30709774|PMID:30930126 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:736367 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:D76N (human) PMID:15170499|REF_RGD_ID:2311308 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736368 D RGD:9068941 20200609 RGD PMID:17383157|REF_RGD_ID:2311310 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736368 D RGD:9068941 20220825 MouseDO OMIM:222100 12257097 PDX1 pancreatic and duodenal homeobox 1 gene DOID:9970 obesity ISO RGD:736367 D RGD:9068941 20200609 RGD mRNA:increased expression:exocrine pancreas (human) PMID:15979049|REF_RGD_ID:1625044 12257103 TRIM67 tripartite motif containing 67 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1352641 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 12257103 TRIM67 tripartite motif containing 67 gene DOID:1540 parathyroid carcinoma ISO RGD:1352641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12257103 TRIM67 tripartite motif containing 67 gene DOID:630 genetic disease ISO RGD:1352641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257103 TRIM67 tripartite motif containing 67 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1352641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 12257103 TRIM67 tripartite motif containing 67 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12257128 GRAMD2A GRAM domain containing 2A gene DOID:2717 Bloom syndrome ISO RGD:1605266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12257128 GRAMD2A GRAM domain containing 2A gene DOID:3320 Tay-Sachs disease ISO RGD:1605266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 12257128 GRAMD2A GRAM domain containing 2A gene DOID:630 genetic disease ISO RGD:1605266 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257128 GRAMD2A GRAM domain containing 2A gene DOID:9256 colorectal cancer ISO RGD:1605266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12257167 SPMIP9 sperm microtubule inner protein 9 gene DOID:630 genetic disease ISO RGD:1602971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257179 PAX5 paired box 5 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1352156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12257179 PAX5 paired box 5 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1352156 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12257179 PAX5 paired box 5 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1352156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24013638|PMID:30643249 12257179 PAX5 paired box 5 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1352156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12257179 PAX5 paired box 5 gene DOID:630 genetic disease ISO RGD:1352156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:35094443 12257179 PAX5 paired box 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:35094443 12257179 PAX5 paired box 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12257179 PAX5 paired box 5 gene DOID:9870 galactosemia ISO RGD:1352156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12257179 PAX5 paired box 5 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1352156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to, 3 PMID:24013638|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30643249|PMID:35094443 12257179 PAX5 paired box 5 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:1352156 D RGD:7240710 20200325 OMIM 12257206 TMED2 transmembrane p24 trafficking protein 2 gene DOID:630 genetic disease ISO RGD:735876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257206 TMED2 transmembrane p24 trafficking protein 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:735876 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12257267 MAF MAF bZIP transcription factor gene DOID:0080060 autosomal recessive spinocerebellar ataxia 12 ISO RGD:731331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 PMID:24369382|PMID:25741868|PMID:26467025|PMID:27959697|PMID:28492532|PMID:29358611|PMID:32214227 12257267 MAF MAF bZIP transcription factor gene DOID:0080452 developmental and epileptic encephalopathy 28 ISO RGD:731331 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28 PMID:25741868|PMID:26467025|PMID:28492532 12257267 MAF MAF bZIP transcription factor gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:731331 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 PMID:17576681|PMID:24369382|PMID:24456803|PMID:25411445|PMID:25741868|PMID:26467025|PMID:27959697|PMID:28492532|PMID:29358611|PMID:29390993|PMID:30356099|PMID:31130284|PMID:31780880|PMID:31957018|PMID:9536098 12257267 MAF MAF bZIP transcription factor gene DOID:0110256 cataract 21 multiple types ISO RGD:731331 D RGD:7240710 20180130 OMIM 12257267 MAF MAF bZIP transcription factor gene DOID:0110256 cataract 21 multiple types ISO RGD:731331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 21 multiple types PMID:11772997|PMID:12620964|PMID:16470690|PMID:17982426|PMID:22345400|PMID:24664492|PMID:24968223|PMID:25064449|PMID:25741868|PMID:25865493|PMID:26694549|PMID:28492532|PMID:30659945|PMID:34217267 12257267 MAF MAF bZIP transcription factor gene DOID:0111688 Ayme-Gripp syndrome ISO RGD:731331 D RGD:7240710 20180130 OMIM 12257267 MAF MAF bZIP transcription factor gene DOID:0111688 Ayme-Gripp syndrome ISO RGD:731331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ayme-Gripp syndrome PMID:12072800|PMID:17935251|PMID:25064449|PMID:25741868|PMID:25865493|PMID:28492532|PMID:30659945|PMID:34217267|PMID:8834052|PMID:8867660 12257267 MAF MAF bZIP transcription factor gene DOID:1059 intellectual disability ISO RGD:731331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12257267 MAF MAF bZIP transcription factor gene DOID:13374 fibrodysplasia ossificans progressiva ISO RGD:731331 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Progressive myositis ossificans PMID:25741868 12257267 MAF MAF bZIP transcription factor gene DOID:1826 epilepsy ISO RGD:731331 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12257267 MAF MAF bZIP transcription factor gene DOID:1852 intrahepatic cholestasis ISO RGD:731331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20146260 12257267 MAF MAF bZIP transcription factor gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:731331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:28492532|PMID:29358611 12257267 MAF MAF bZIP transcription factor gene DOID:5041 esophageal cancer ISO RGD:731331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophagus cancer PMID:25741868|PMID:28492532 12257267 MAF MAF bZIP transcription factor gene DOID:5419 schizophrenia ISO RGD:731331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12257267 MAF MAF bZIP transcription factor gene DOID:630 genetic disease ISO RGD:731331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532|PMID:31600839 12257267 MAF MAF bZIP transcription factor gene DOID:83 cataract ISO RGD:731331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:26694549 12257267 MAF MAF bZIP transcription factor gene DOID:9003799 Cataract Microcornea Syndrome ISO RGD:731331 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.R299S (c.895C>A), p.K320E (c.958A>G) (human) PMID:19182255|REF_RGD_ID:13204740 12257267 MAF MAF bZIP transcription factor gene DOID:9008086 Developmental Disabilities ISO RGD:731331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 12257267 MAF MAF bZIP transcription factor gene DOID:9008443 Colorectal Neoplasms ISO RGD:731331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 12257267 MAF MAF bZIP transcription factor gene DOID:9538 multiple myeloma ISO RGD:735352 D RGD:9068941 20220825 MouseDO OMIM:254500 12257278 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:0050336 hypophosphatemia ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19898264 12257278 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:13580 cholestasis disease_progression ISO RGD:69057 D RGD:9068941 20200609 RGD PMID:29204052|REF_RGD_ID:13782189 12257278 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:182 calcinosis ISO RGD:69105 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:30963258 12257278 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:1826 epilepsy treatment ISO RGD:69057 D RGD:9068941 20200609 RGD PMID:28303499|REF_RGD_ID:13524859 12257278 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:2383 neonatal jaundice ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22371261 12257278 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:299 adenocarcinoma ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21977915 12257278 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:3347 osteosarcoma ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17279585 12257278 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:630 genetic disease ISO RGD:69105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257278 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21977915 12257278 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29425287 12257278 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:9005369 Hepatomegaly ISO RGD:69105 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:23607986|PMID:32320717|PMID:36030841 12257278 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20869355 12257278 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19797606|PMID:28058446 12257278 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:69105 D RGD:9068941 20201225 RGD associated with tuberculosis ;DNA:SNP,haplotypes:promoter: (rs3814055) (human) PMID:31490979|REF_RGD_ID:40902984 12257278 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:9007456 Female Infertility ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23710174 12257278 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:9206 Barrett's esophagus ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21977915 12257278 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:9351 diabetes mellitus ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20869355 12257278 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:9452 fatty liver disease ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25182422 12257278 NR1I2 nuclear receptor subfamily 1 group I member 2 gene DOID:9970 obesity ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20869355 12257293 MINDY4 MINDY lysine 48 deubiquitinase 4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604570 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12257293 MINDY4 MINDY lysine 48 deubiquitinase 4 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1604570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 12257293 MINDY4 MINDY lysine 48 deubiquitinase 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12257293 MINDY4 MINDY lysine 48 deubiquitinase 4 gene DOID:630 genetic disease ISO RGD:1604570 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257329 RPGRIP1 RPGR interacting protein 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1321922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:11528500|PMID:16272259|PMID:23105016|PMID:25741868|PMID:28492532|PMID:30072743 12257329 RPGRIP1 RPGR interacting protein 1 gene DOID:0050795 cone dystrophy ISO RGD:1321922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25741868|PMID:28492532 12257329 RPGRIP1 RPGR interacting protein 1 gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1321922 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:11283794|PMID:11528500|PMID:12920076|PMID:16123401|PMID:16199547|PMID:16374347|PMID:17576681|PMID:20301475|PMID:21224891|PMID:21857984|PMID:22277662|PMID:23105016|PMID:25741868|PMID:27884173|PMID:28041643|PMID:28492532|PMID:30576320|PMID:32865313|PMID:9536098 12257329 RPGRIP1 RPGR interacting protein 1 gene DOID:0110329 Leber congenital amaurosis 6 ISO RGD:1321922 D RGD:7240710 20180130 OMIM 12257329 RPGRIP1 RPGR interacting protein 1 gene DOID:0110329 Leber congenital amaurosis 6 ISO RGD:1321922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 6 PMID:11283794|PMID:11528500|PMID:12920076|PMID:14971589|PMID:15024725|PMID:15800011|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16339905|PMID:16374347|PMID:17576681|PMID:17964524|PMID:18055816|PMID:20079931|PMID:20301475|PMID:21153841|PMID:21224891|PMID:21602930|PMID:21857984|PMID:22025579|PMID:22277662|PMID:23105016|PMID:23213406|PMID:23505306|PMID:23776498|PMID:23847139|PMID:24123792|PMID:24265693|PMID:24516651|PMID:24997176|PMID:25097241|PMID:25412400|PMID:25445212|PMID:25741868|PMID:26355662|PMID:26667666|PMID:26764160|PMID:26893459|PMID:27353947|PMID:27884173|PMID:28041643|PMID:28181551|PMID:28456785|PMID:28492532|PMID:28559085|PMID:28679690|PMID:28714225|PMID:28838317|PMID:29178642|PMID:29844330|PMID:30072743|PMID:30202406|PMID:30576320|PMID:30718709|PMID:31630094|PMID:31736247|PMID:31816670|PMID:32165824|PMID:32531858|PMID:32860008|PMID:32865313|PMID:33670832|PMID:9536098 12257329 RPGRIP1 RPGR interacting protein 1 gene DOID:0111002 Joubert syndrome 7 ISO RGD:1321922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 7 12257329 RPGRIP1 RPGR interacting protein 1 gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1321922 D RGD:7240710 20180130 OMIM 12257329 RPGRIP1 RPGR interacting protein 1 gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1321922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11283794|PMID:11528500|PMID:12920076|PMID:14971589|PMID:15024725|PMID:15800011|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16339905|PMID:16374347|PMID:17525851|PMID:17576681|PMID:17964524|PMID:18055816|PMID:18682808|PMID:20079931|PMID:20301475|PMID:21153841|PMID:21224891|PMID:21602930|PMID:21857984|PMID:22025579|PMID:22261762|PMID:22277662|PMID:23105016|PMID:23213406|PMID:23505306|PMID:23776498|PMID:23847139|PMID:24123792|PMID:24265693|PMID:24997176|PMID:25097241|PMID:25326637|PMID:25412400|PMID:25445212|PMID:25640679|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26667666|PMID:26764160|PMID:26872967|PMID:26893459|PMID:26992781|PMID:27208204|PMID:27353947|PMID:27422788|PMID:27884173|PMID:28041643|PMID:28157192|PMID:28378820|PMID:28453600|PMID:28456785|PMID:28492532|PMID:28559085|PMID:28679690|PMID:28714225|PMID:28838317|PMID:29178642|PMID:29343940|PMID:29754767|PMID:29844330|PMID:30072743|PMID:30202406|PMID:30576320|PMID:30902645|PMID:31456290|PMID:31630094|PMID:31736247|PMID:32581362|PMID:32860008|PMID:32865313|PMID:33670832|PMID:9536098 12257329 RPGRIP1 RPGR interacting protein 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1321922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:25741868|PMID:26893459|PMID:28492532 12257329 RPGRIP1 RPGR interacting protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1321922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11528500|PMID:23105016|PMID:25741868|PMID:28041643|PMID:28456785|PMID:28492532|PMID:29178642|PMID:31456290 12257329 RPGRIP1 RPGR interacting protein 1 gene DOID:10907 microcephaly ISO RGD:1321922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12257329 RPGRIP1 RPGR interacting protein 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1321922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:11283794|PMID:11528500|PMID:16199547|PMID:16272259|PMID:20065226|PMID:20079931|PMID:21602930|PMID:23105016|PMID:24123792|PMID:24516651|PMID:24997176|PMID:25741868|PMID:26047050|PMID:27422788|PMID:28041643|PMID:28181551|PMID:28456785|PMID:28492532|PMID:28714225|PMID:30072743|PMID:30202406|PMID:30576320|PMID:30718709|PMID:31630094|PMID:31816670|PMID:32165824|PMID:32531858|PMID:32581362|PMID:32860008 12257329 RPGRIP1 RPGR interacting protein 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1321922 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868 12257329 RPGRIP1 RPGR interacting protein 1 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1321922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12257329 RPGRIP1 RPGR interacting protein 1 gene DOID:630 genetic disease ISO RGD:1321922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12257329 RPGRIP1 RPGR interacting protein 1 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1321922 D RGD:9068941 20200609 RGD PMID:11283794|REF_RGD_ID:1599580 12257329 RPGRIP1 RPGR interacting protein 1 gene DOID:8501 fundus dystrophy ISO RGD:1321922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11528500|PMID:15024725|PMID:23105016|PMID:25445212|PMID:25741868|PMID:27208204|PMID:28492532|PMID:28559085|PMID:28714225|PMID:30072743|PMID:30576320 12257329 RPGRIP1 RPGR interacting protein 1 gene DOID:9000343 Vision Disorders ISO RGD:1321922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:11528500|PMID:25741868 12257329 RPGRIP1 RPGR interacting protein 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321922 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12257329 RPGRIP1 RPGR interacting protein 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1321922 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:24123792|PMID:26047050|PMID:27422788|PMID:28041643|PMID:28492532|PMID:32581362 12257329 RPGRIP1 RPGR interacting protein 1 gene DOID:9650 pathologic nystagmus ISO RGD:1321922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11283794 12257358 AMDHD1 amidohydrolase domain containing 1 gene DOID:630 genetic disease ISO RGD:1603900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257371 MTCH2 mitochondrial carrier 2 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1317645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12257371 MTCH2 mitochondrial carrier 2 gene DOID:0080600 COVID-19 ISO RGD:1317645 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12257371 MTCH2 mitochondrial carrier 2 gene DOID:1059 intellectual disability ISO RGD:1317645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12257371 MTCH2 mitochondrial carrier 2 gene DOID:630 genetic disease ISO RGD:1317645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257371 MTCH2 mitochondrial carrier 2 gene DOID:9970 obesity ISO RGD:1317645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19079261 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:0050700 cardiomyopathy onset ISO RGD:1551416 D RGD:9068941 20200609 RGD PMID:23316298|REF_RGD_ID:7800701 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:0060260 ptosis ISO RGD:1344166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ptosis PMID:19303950|PMID:20157015|PMID:22857269|PMID:25741868|PMID:26467025|PMID:27890673|PMID:28492532 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:0080336 mitochondrial DNA depletion syndrome 14 ISO RGD:1344166 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) PMID:11017079|PMID:11440988|PMID:11440989|PMID:11810270|PMID:12036970|PMID:14961560|PMID:15505825|PMID:16513463|PMID:18222991|PMID:20157015|PMID:20417570|PMID:20659957|PMID:20801516|PMID:20952381|PMID:21636302|PMID:21646330|PMID:22042570|PMID:22857269|PMID:23250881|PMID:23401657|PMID:24907432|PMID:25012220|PMID:25641387|PMID:25741868|PMID:26206283|PMID:26385429|PMID:26467025|PMID:28492532|PMID:28812649|PMID:33546218|PMID:9490303|PMID:9917792 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:0080336 mitochondrial DNA depletion syndrome 14 susceptibility ISO RGD:1344166 D RGD:7240710 20230517 OMIM 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:0110380 retinitis pigmentosa 62 ISO RGD:1344166 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 62 PMID:25741868 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1344166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:19303950|PMID:20157015|PMID:22857269|PMID:25741868|PMID:26467025|PMID:27890673|PMID:28492532 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:0111340 dominant optic atrophy plus syndrome ISO RGD:1344166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy PMID:11017079|PMID:11017080|PMID:11440988|PMID:11440989|PMID:11810270|PMID:12036970|PMID:12488262|PMID:12566046|PMID:14644237|PMID:14961560|PMID:15505825|PMID:15531309|PMID:16158427|PMID:16240368|PMID:16513463|PMID:17167772|PMID:17188070|PMID:17722006|PMID:17724190|PMID:18065439|PMID:18158317|PMID:18195150|PMID:18204809|PMID:18222991|PMID:18496845|PMID:19029523|PMID:19303950|PMID:19319978|PMID:19900585|PMID:20157015|PMID:20185555|PMID:20301426|PMID:20417570|PMID:20659957|PMID:20801516|PMID:20952381|PMID:21036400|PMID:21112924|PMID:21636302|PMID:21646330|PMID:21745197|PMID:22042570|PMID:22433900|PMID:22779427|PMID:22857269|PMID:23250881|PMID:23401657|PMID:23916084|PMID:24907432|PMID:24970096|PMID:25012220|PMID:25146915|PMID:25146916|PMID:25564500|PMID:25641387|PMID:25741868|PMID:26206283|PMID:26385429|PMID:26467025|PMID:26867657|PMID:27290639|PMID:27858935|PMID:27890673|PMID:28378518|PMID:28492532|PMID:28494813|PMID:28812649|PMID:28848318|PMID:28926202|PMID:28981474|PMID:29389947|PMID:30293569|PMID:30972688|PMID:31609081|PMID:31673222|PMID:31782039|PMID:32040484|PMID:32202296|PMID:32371413|PMID:32379273|PMID:33546218|PMID:33841295|PMID:33884488|PMID:34008892|PMID:34242285|PMID:34426522|PMID:34732400|PMID:4058877|PMID:6493699|PMID:9490303|PMID:9917792 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:0111340 dominant optic atrophy plus syndrome susceptibility ISO RGD:1344166 D RGD:7240710 20230517 OMIM 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:0111441 optic atrophy 1 ISO RGD:1344166 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kjer-type optic atrophy | ClinVar Annotator: match by term: Optic Atrophy Type 1 | ClinVar Annotator: match by term: Optic Atrophy, Dominant | ClinVar Annotator: match by term: Optic atrophy, juvenile PMID:11017079|PMID:11017080|PMID:11440988|PMID:11440989|PMID:11735024|PMID:11810270|PMID:12036970|PMID:12488262|PMID:12566046|PMID:12842213|PMID:14644237|PMID:14961560|PMID:15505825|PMID:15531309|PMID:15948788|PMID:16158427|PMID:16199547|PMID:16240368|PMID:16513463|PMID:16617242|PMID:16785854|PMID:17167772|PMID:17188070|PMID:17251483|PMID:17576681|PMID:17722006|PMID:17724190|PMID:18065439|PMID:18158317|PMID:18222991|PMID:18360822|PMID:18496845|PMID:19029523|PMID:19319978|PMID:19581274|PMID:19900585|PMID:20157015|PMID:20185555|PMID:20301426|PMID:20417568|PMID:20417570|PMID:20659957|PMID:20801516|PMID:20952381|PMID:21036400|PMID:21203403|PMID:21538838|PMID:21636302|PMID:21646330|PMID:21745197|PMID:21828197|PMID:22042570|PMID:22433900|PMID:22779427|PMID:22857269|PMID:23250881|PMID:23384603|PMID:23387428|PMID:23401657|PMID:23916084|PMID:24907432|PMID:24970096|PMID:25012220|PMID:25137924|PMID:25146915|PMID:25146916|PMID:25205859|PMID:25326637|PMID:25564500|PMID:25641387|PMID:25699009|PMID:25741868|PMID:25794858|PMID:26206283|PMID:26385429|PMID:26467025|PMID:26624494|PMID:26867657|PMID:27290639|PMID:27656661|PMID:27858935|PMID:28005958|PMID:28378518|PMID:28492532|PMID:28494813|PMID:28812649|PMID:28926202|PMID:29389947|PMID:30293569|PMID:30972688|PMID:31500643|PMID:31589614|PMID:31609081|PMID:31673222|PMID:31782039|PMID:32025183|PMID:32040484|PMID:32202296|PMID:32371413|PMID:32379273|PMID:32855858|PMID:33084218|PMID:33546218|PMID:33841295|PMID:33884488|PMID:34008892|PMID:34242285|PMID:34426522|PMID:34732400|PMID:4058877|PMID:6493699|PMID:9490303|PMID:9536098|PMID:9917792 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:0111441 optic atrophy 1 susceptibility ISO RGD:1344166 D RGD:7240710 20230517 OMIM 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:0111580 Behr syndrome ISO RGD:1344166 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss | ClinVar Annotator: match by term: Optic atrophy, infantile hereditary, Behr complicated form of PMID:11017079|PMID:11440988|PMID:11440989|PMID:11810270|PMID:12036970|PMID:14961560|PMID:15505825|PMID:16513463|PMID:17576681|PMID:17722006|PMID:18222991|PMID:18496845|PMID:19303950|PMID:19319978|PMID:19900585|PMID:20157015|PMID:20417568|PMID:20417570|PMID:20659957|PMID:20801516|PMID:20952381|PMID:21036400|PMID:21636302|PMID:21646330|PMID:22042570|PMID:22857269|PMID:23250881|PMID:23401657|PMID:24907432|PMID:24970096|PMID:25012220|PMID:25146915|PMID:25146916|PMID:25641387|PMID:25741868|PMID:25794858|PMID:26206283|PMID:26385429|PMID:26467025|PMID:27290639|PMID:27890673|PMID:28378518|PMID:28492532|PMID:28494813|PMID:28812649|PMID:30293569|PMID:30972688|PMID:31782039|PMID:32040484|PMID:32202296|PMID:32371413|PMID:33546218|PMID:33841295|PMID:34242285|PMID:34426522|PMID:34732400|PMID:9490303|PMID:9536098|PMID:9917792 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:0111580 Behr syndrome susceptibility ISO RGD:1344166 D RGD:7240710 20230517 OMIM 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:10652 Alzheimer's disease ISO RGD:1344166 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:19605646|REF_RGD_ID:7800727 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:1070 primary open angle glaucoma ISO RGD:1344166 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood, leukocyte PMID:21552501|REF_RGD_ID:7800718 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:1070 primary open angle glaucoma no_association ISO RGD:1344166 D RGD:9068941 20200609 RGD DNA:SNPs: :rs166850, rs10451941 (human) PMID:18079692|REF_RGD_ID:7800721 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:1070 primary open angle glaucoma no_association ISO RGD:1344166 D RGD:9068941 20200609 RGD DNA:SNPs:exons, introns:multiple PMID:16785854|REF_RGD_ID:7800713 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:1070 primary open angle glaucoma no_association ISO RGD:1344166 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:IVS8+4C>T (human) PMID:17188046|REF_RGD_ID:7800685 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:10763 hypertension ISO RGD:708423 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle (rat) PMID:24388463|REF_RGD_ID:7800726 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:11476 osteoporosis ISO RGD:1344166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:25741868 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:1686 glaucoma treatment ISO RGD:1551416 D RGD:9068941 20200609 RGD PMID:18936150|PMID:20664796|REF_RGD_ID:7800698|REF_RGD_ID:7800720 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:224 transient cerebral ischemia ISO RGD:1551416 D RGD:9068941 20200609 RGD protein:altered expression:brain PMID:22345048|REF_RGD_ID:7800722 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:224 transient cerebral ischemia treatment ISO RGD:708423 D RGD:9068941 20200609 RGD PMID:24633199|REF_RGD_ID:13208946 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:4483 rhinitis ISO RGD:708423 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nasal cavity mucosa (rat) PMID:28146064|REF_RGD_ID:13204839 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:5419 schizophrenia ISO RGD:1344166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:5723 optic atrophy ISO RGD:1344166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:11440988|PMID:12036970|PMID:19112530|PMID:20157015|PMID:20952381|PMID:25012220|PMID:25741868|PMID:28492532|PMID:34242285 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:5844 myocardial infarction treatment ISO RGD:708423 D RGD:9068941 20200609 RGD PMID:20886221|REF_RGD_ID:12738232 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:6000 congestive heart failure ISO RGD:1344166 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:19493956|REF_RGD_ID:7800717 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:6000 congestive heart failure ISO RGD:708423 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:19493956|REF_RGD_ID:7800717 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:630 genetic disease ISO RGD:1344166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11440988|PMID:11440989|PMID:14961560|PMID:16158427|PMID:17576681|PMID:17722006|PMID:18496845|PMID:19319978|PMID:19900585|PMID:20157015|PMID:20952381|PMID:21636302|PMID:23384603|PMID:24970096|PMID:25012220|PMID:25146915|PMID:25146916|PMID:25741868|PMID:26467025|PMID:27290639|PMID:28005958|PMID:28378518|PMID:28492532|PMID:28494813|PMID:30293569|PMID:30972688|PMID:31782039|PMID:32040484|PMID:32202296|PMID:32371413|PMID:33084218|PMID:33841295|PMID:34242285|PMID:34426522|PMID:34732400|PMID:9536098 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:700 mitochondrial metabolism disease ISO RGD:1344166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: mitochondrial disorder PMID:11017079|PMID:11440988|PMID:11440989|PMID:11810270|PMID:12036970|PMID:12566046|PMID:14644237|PMID:14961560|PMID:15505825|PMID:15531309|PMID:16158427|PMID:16240368|PMID:16513463|PMID:17722006|PMID:18065439|PMID:18158317|PMID:18222991|PMID:19029523|PMID:19319978|PMID:20157015|PMID:20185555|PMID:20301426|PMID:20417570|PMID:20659957|PMID:20952381|PMID:21636302|PMID:21646330|PMID:22042570|PMID:22382025|PMID:22433900|PMID:22857269|PMID:23250881|PMID:23401657|PMID:24907432|PMID:25012220|PMID:25641387|PMID:25741868|PMID:26385429|PMID:26467025|PMID:28378518|PMID:28492532|PMID:28812649|PMID:28926202|PMID:30293569|PMID:31609081|PMID:31673222|PMID:33546218|PMID:4058877|PMID:6493699|PMID:9490303|PMID:9917792 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:784 chronic kidney disease treatment ISO RGD:708423 D RGD:9068941 20200609 RGD PMID:27801955|REF_RGD_ID:12738369 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:8398 osteoarthritis ISO RGD:1344166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:8501 fundus dystrophy ISO RGD:1344166 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11017079|PMID:11440988|PMID:11440989|PMID:11810270|PMID:12036970|PMID:14961560|PMID:15505825|PMID:16513463|PMID:17251483|PMID:18222991|PMID:20157015|PMID:20417570|PMID:20659957|PMID:20952381|PMID:21636302|PMID:21646330|PMID:22042570|PMID:22857269|PMID:23250881|PMID:23401657|PMID:24907432|PMID:25012220|PMID:25205859|PMID:25641387|PMID:25741868|PMID:26385429|PMID:26467025|PMID:28492532|PMID:28812649|PMID:32025183|PMID:32855858|PMID:33546218|PMID:33884488|PMID:34242285|PMID:9490303|PMID:9917792 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9001062 Normal Tension Glaucoma ISO RGD:1344166 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: GLAUCOMA, NORMAL PRESSURE, SUSCEPTIBILITY TO PMID:11017079|PMID:11440988|PMID:11440989|PMID:11810270|PMID:12036970|PMID:14961560|PMID:15505825|PMID:16513463|PMID:18222991|PMID:20157015|PMID:20417570|PMID:20659957|PMID:20952381|PMID:21636302|PMID:21646330|PMID:22042570|PMID:22857269|PMID:23250881|PMID:23401657|PMID:24907432|PMID:25012220|PMID:25641387|PMID:25741868|PMID:26385429|PMID:26467025|PMID:28492532|PMID:28812649|PMID:33546218|PMID:9490303|PMID:9917792 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9001062 Normal Tension Glaucoma susceptibility ISO RGD:1344166 D RGD:7240710 20230517 OMIM 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9001725 Retina Reperfusion Injury ISO RGD:708423 D RGD:9068941 20200609 RGD protein:increased expression:retina, cytosol (rat) PMID:19122832|REF_RGD_ID:13208943 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9003936 Cardiomegaly ISO RGD:1551416 D RGD:9068941 20200609 RGD PMID:22406748|REF_RGD_ID:7800697 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9003936 Cardiomegaly ISO RGD:708423 D RGD:9068941 20200609 RGD associated with Hypertension PMID:24388463|REF_RGD_ID:7800726 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9003936 Cardiomegaly treatment ISO RGD:1551416 D RGD:9068941 20200609 RGD PMID:28503736|REF_RGD_ID:12910714 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9004610 Acute Lung Injury ISO RGD:708423 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:lung (rat) PMID:25560372|REF_RGD_ID:12437080 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9004635 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY ISO RGD:1344166 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without early-onset generalized epilepsy PMID:17722006|PMID:18496845|PMID:19319978|PMID:19900585|PMID:21636302|PMID:24970096|PMID:25012220|PMID:25146915|PMID:25146916|PMID:25741868|PMID:26467025|PMID:27290639|PMID:28378518|PMID:28492532|PMID:28494813|PMID:30293569|PMID:30972688|PMID:31782039|PMID:32040484|PMID:32202296|PMID:32371413|PMID:33841295|PMID:34242285|PMID:34426522|PMID:34732400 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9004991 Holoprosencephaly 12 ISO RGD:1344166 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 12 with or without pancreatic agenesis PMID:25741868|PMID:28492532 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9005532 Muscle Weakness ISO RGD:1344166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:19303950|PMID:20157015|PMID:22857269|PMID:25741868|PMID:26467025|PMID:27890673|PMID:28492532 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:708423 D RGD:9068941 20200609 RGD PMID:27491814|REF_RGD_ID:12910831 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9007174 Ventricular Remodeling ISO RGD:1344166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20886221 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9007588 Heart Injuries ISO RGD:708423 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart (rat) PMID:25677476|REF_RGD_ID:12437078 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9008824 Sarcopenia ISO RGD:708423 D RGD:9068941 20200609 RGD protein:increased expression:extensor digitorum longus (rat) PMID:23220115|REF_RGD_ID:12738219 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9282 ocular hypertension ISO RGD:708423 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina PMID:21220562|REF_RGD_ID:7800684 12257389 OPA1 OPA1 mitochondrial dynamin like GTPase gene DOID:9452 fatty liver disease ISO RGD:708423 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:24663492|REF_RGD_ID:12453042 12257439 LOC480667 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase gene DOID:0050777 Joubert syndrome ISO RGD:1347467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12257439 LOC480667 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1347467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12257439 LOC480667 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1347467 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12257439 LOC480667 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1347467 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12257439 LOC480667 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1347467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12257439 LOC480667 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1347467 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12257439 LOC480667 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1347467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12257439 LOC480667 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1347467 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12257439 LOC480667 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase gene DOID:0081097 Rafiq syndrome ISO RGD:1347467 D RGD:7240710 20180130 OMIM 12257439 LOC480667 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase gene DOID:0081097 Rafiq syndrome ISO RGD:1347467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MAN1B1-CDG | ClinVar Annotator: match by term: Rafiq syndrome PMID:17576681|PMID:18414213|PMID:21763484|PMID:21937992|PMID:24348268|PMID:24566669|PMID:25741868|PMID:26279649|PMID:27148587|PMID:28492532|PMID:28940310|PMID:29908352|PMID:30982612|PMID:9536098 12257439 LOC480667 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase gene DOID:1059 intellectual disability ISO RGD:1347467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12257439 LOC480667 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase gene DOID:1826 epilepsy ISO RGD:1347467 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12257439 LOC480667 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase gene DOID:3652 Leigh disease ISO RGD:1347467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12257439 LOC480667 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase gene DOID:630 genetic disease ISO RGD:1347467 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:21763484|PMID:21937992|PMID:24348268|PMID:24566669|PMID:25741868|PMID:26279649|PMID:27148587|PMID:28492532|PMID:29908352 12257439 LOC480667 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1347467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12257439 LOC480667 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase gene DOID:9008086 Developmental Disabilities ISO RGD:1347467 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:21763484|PMID:21937992|PMID:24348268|PMID:24566669|PMID:25741868|PMID:26279649|PMID:27148587|PMID:29908352 12257456 GOLGA1 golgin A1 gene DOID:630 genetic disease ISO RGD:1322690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257497 SPIN4 spindlin family member 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12257497 SPIN4 spindlin family member 4 gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1602297 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:9383023 12257497 SPIN4 spindlin family member 4 gene DOID:12849 autistic disorder ISO RGD:1602297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12257502 GLA galactosidase alpha gene DOID:0050700 cardiomyopathy ISO RGD:1344140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10666480|PMID:11531969|PMID:11668641|PMID:11828341|PMID:11889412|PMID:11914245|PMID:12175777|PMID:14635108|PMID:14680977|PMID:15091117|PMID:15702404|PMID:15712228|PMID:15776423|PMID:15806320|PMID:16232095|PMID:16533976|PMID:16595074|PMID:16754800|PMID:1677356|PMID:16773563|PMID:17040996|PMID:17532296|PMID:17555407|PMID:17804462|PMID:18003767|PMID:18057066|PMID:18154965|PMID:18205205|PMID:18297328|PMID:18596132|PMID:18830871|PMID:18849176|PMID:19373884|PMID:19621417|PMID:19823873|PMID:20031620|PMID:20110537|PMID:20122163|PMID:20360539|PMID:20464614|PMID:20716442|PMID:20821055|PMID:21062768|PMID:21092187|PMID:21229318|PMID:21517827|PMID:21549080|PMID:21598360|PMID:21683120|PMID:21890869|PMID:21946453|PMID:21972175|PMID:22205110|PMID:22226368|PMID:22336178|PMID:22437327|PMID:22551898|PMID:22682330|PMID:22805550|PMID:22905681|PMID:23109060|PMID:23219219|PMID:23306324|PMID:23332617|PMID:23393592|PMID:23430502|PMID:23430526|PMID:23465405|PMID:23568732|PMID:23608164|PMID:23677059|PMID:23818648|PMID:23922385|PMID:2393552|PMID:23935525|PMID:24015197|PMID:24033266|PMID:24082139|PMID:24365053|PMID:24380807|PMID:24386359|PMID:24395922|PMID:24582695|PMID:24661928|PMID:24784157|PMID:24829596|PMID:24980630|PMID:25040344|PMID:25078086|PMID:25179549|PMID:25382311|PMID:25468652|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26047621|PMID:26252393|PMID:26305465|PMID:26384850|PMID:26415523|PMID:26866599|PMID:26869469|PMID:26990548|PMID:27142856|PMID:27532257|PMID:27554049|PMID:27595546|PMID:27657681|PMID:27832731|PMID:27916943|PMID:27931613|PMID:28082092|PMID:28276057|PMID:28299312|PMID:28340804|PMID:2836863|PMID:28377241|PMID:28409012|PMID:28430823|PMID:28492532|PMID:28596458|PMID:28646478|PMID:28728877|PMID:28799081|PMID:28941980|PMID:28943383|PMID:28988177|PMID:29018006|PMID:29037082|PMID:29044343|PMID:29132836|PMID:29215092|PMID:29330335|PMID:29530533|PMID:29621274|PMID:29631605|PMID:29649853|PMID:29867742|PMID:29875425|PMID:29982630|PMID:30023289|PMID:30246259|PMID:30380558|PMID:30386727|PMID:30477121|PMID:30569317|PMID:30662066|PMID:30739116|PMID:30773290|PMID:31020198|PMID:31036492|PMID:31291414|PMID:31449323|PMID:31566927|PMID:31613176|PMID:31654629|PMID:31860127|PMID:31907047|PMID:31949022|PMID:31956509|PMID:31996269|PMID:32011328|PMID:32042454|PMID:32109691|PMID:32150461|PMID:32246457|PMID:32418857|PMID:32435590|PMID:32531501|PMID:33036343|PMID:33543778|PMID:6379599|PMID:7504405|PMID:7911050|PMID:8395937|PMID:8411052|PMID:8807334|PMID:8875188|PMID:8878432|PMID:9100224|PMID:9452111 12257502 GLA galactosidase alpha gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12257502 GLA galactosidase alpha gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1344140 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 12257502 GLA galactosidase alpha gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1344140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 12257502 GLA galactosidase alpha gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1344140 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10208848|PMID:10838196|PMID:10916280|PMID:11322659|PMID:11668641|PMID:11688386|PMID:12428061|PMID:15702404|PMID:15806320|PMID:16533976|PMID:16595074|PMID:16773563|PMID:17040996|PMID:17532296|PMID:17804462|PMID:18154965|PMID:18596132|PMID:20031620|PMID:20360539|PMID:20505683|PMID:21549080|PMID:21598360|PMID:2171331|PMID:22241068|PMID:22805550|PMID:23219219|PMID:23378663|PMID:23430526|PMID:23935525|PMID:24033266|PMID:24082139|PMID:24380807|PMID:24386359|PMID:24784157|PMID:25040344|PMID:25382311|PMID:25611685|PMID:25741868|PMID:27142856|PMID:27356758|PMID:27560961|PMID:27832731|PMID:28382085|PMID:28492532|PMID:28799081|PMID:29121657|PMID:29867742|PMID:29982630|PMID:30804731|PMID:31613176|PMID:31949022|PMID:31956509|PMID:31996269|PMID:32011328|PMID:32418857|PMID:8738659|PMID:8878432|PMID:9100224|PMID:9395081|PMID:9883849 12257502 GLA galactosidase alpha gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1344140 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10208848|PMID:10838196|PMID:10916280|PMID:11322659|PMID:11668641|PMID:11688386|PMID:12428061|PMID:15702404|PMID:15806320|PMID:16533976|PMID:16595074|PMID:16773563|PMID:17040996|PMID:17532296|PMID:17804462|PMID:18154965|PMID:18596132|PMID:20031620|PMID:20360539|PMID:20505683|PMID:21549080|PMID:21598360|PMID:2171331|PMID:22241068|PMID:22805550|PMID:23219219|PMID:23378663|PMID:23430526|PMID:23935525|PMID:24033266|PMID:24082139|PMID:24380807|PMID:24386359|PMID:24784157|PMID:25040344|PMID:25382311|PMID:25611685|PMID:25741868|PMID:26415523|PMID:27142856|PMID:27356758|PMID:27560961|PMID:27832731|PMID:27916943|PMID:28253518|PMID:28382085|PMID:28492532|PMID:28728877|PMID:28799081|PMID:29121657|PMID:29794742|PMID:29867742|PMID:29982630|PMID:30804731|PMID:31613176|PMID:31949022|PMID:31956509|PMID:31996269|PMID:32011328|PMID:32418857|PMID:33495303|PMID:8738659|PMID:8878432|PMID:9100224|PMID:9395081|PMID:9883849 12257502 GLA galactosidase alpha gene DOID:1184 nephrotic syndrome ISO RGD:1344140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:29127259 12257502 GLA galactosidase alpha gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1344140 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10208848|PMID:10666480|PMID:11531969|PMID:11668641|PMID:11828341|PMID:11914245|PMID:12175777|PMID:14635108|PMID:14680977|PMID:15003450|PMID:15091117|PMID:15702404|PMID:15712228|PMID:15806320|PMID:16232095|PMID:16754800|PMID:16773563|PMID:17555407|PMID:18057066|PMID:18154965|PMID:18297328|PMID:18849176|PMID:19373884|PMID:19621417|PMID:19823873|PMID:20031620|PMID:20110537|PMID:20122163|PMID:20360539|PMID:20464614|PMID:20821055|PMID:21062768|PMID:21092187|PMID:21229318|PMID:21517827|PMID:21598360|PMID:21683120|PMID:21972175|PMID:22226368|PMID:22437327|PMID:22682330|PMID:23109060|PMID:23219219|PMID:23332617|PMID:23393592|PMID:23430502|PMID:23568732|PMID:23677059|PMID:23818648|PMID:23935525|PMID:24033266|PMID:24386359|PMID:24582695|PMID:24829596|PMID:24980630|PMID:25078086|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26047621|PMID:26384850|PMID:26415523|PMID:26866599|PMID:26869469|PMID:27532257|PMID:27554049|PMID:27595546|PMID:27832731|PMID:27931613|PMID:28082092|PMID:28276057|PMID:28377241|PMID:28430823|PMID:28492532|PMID:28943383|PMID:28988177|PMID:29018006|PMID:29037082|PMID:29044343|PMID:29215092|PMID:29530533|PMID:29621274|PMID:29631605|PMID:29649853|PMID:29875425|PMID:30023289|PMID:30380558|PMID:30386727|PMID:30477121|PMID:30662066|PMID:31020198|PMID:31613176|PMID:31996269|PMID:32042454|PMID:32109691|PMID:32246457|PMID:32435590|PMID:33543778|PMID:7504405|PMID:7911050|PMID:8395937|PMID:8411052|PMID:8878432|PMID:9452111 12257502 GLA galactosidase alpha gene DOID:12849 autistic disorder ISO RGD:1344140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12257502 GLA galactosidase alpha gene DOID:14499 Fabry disease ISO RGD:1344140 D RGD:7240710 20180130 OMIM 12257502 GLA galactosidase alpha gene DOID:14499 Fabry disease ISO RGD:1344140 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum | ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease PMID:10090526|PMID:10200059|PMID:10208848|PMID:10360396|PMID:10649504|PMID:10666480|PMID:10838196|PMID:10916280|PMID:11076046|PMID:11137837|PMID:11145098|PMID:11179018|PMID:11295840|PMID:11322659|PMID:11531969|PMID:11531972|PMID:11668641|PMID:11688386|PMID:11804208|PMID:11828341|PMID:11889412|PMID:11914245|PMID:12068026|PMID:12175777|PMID:12207598|PMID:12359124|PMID:12428061|PMID:12429061|PMID:12480979|PMID:12512750|PMID:12668521|PMID:12694230|PMID:12778775|PMID:12786754|PMID:12796853|PMID:12911529|PMID:12920095|PMID:12938095|PMID:1315304|PMID:1315715|PMID:14635108|PMID:14680977|PMID:15003450|PMID:15091117|PMID:15100373|PMID:15162124|PMID:15339079|PMID:15353880|PMID:15492942|PMID:15611419|PMID:15695328|PMID:15702403|PMID:15702404|PMID:15712228|PMID:15713906|PMID:15776423|PMID:15806320|PMID:15924232|PMID:15947062|PMID:16148726|PMID:16199547|PMID:16215932|PMID:16224739|PMID:16232095|PMID:1650161|PMID:16533976|PMID:16595074|PMID:16626582|PMID:16720462|PMID:16754800|PMID:1677356|PMID:16773563|PMID:17040996|PMID:17057070|PMID:17206462|PMID:17224688|PMID:17437606|PMID:17452128|PMID:17532296|PMID:1753437|PMID:17555407|PMID:17576681|PMID:17656478|PMID:17713670|PMID:17804462|PMID:18003767|PMID:18023222|PMID:18046674|PMID:18057066|PMID:18154965|PMID:18154966|PMID:18205205|PMID:18287059|PMID:18297328|PMID:18387337|PMID:18424138|PMID:1846223|PMID:18472290|PMID:18555667|PMID:18596132|PMID:18633574|PMID:18698230|PMID:18724168|PMID:18830871|PMID:18849176|PMID:18974770|PMID:19265719|PMID:19285316|PMID:19287194|PMID:19320660|PMID:19373884|PMID:19387866|PMID:19621417|PMID:19763152|PMID:19823873|PMID:19941952|PMID:20022777|PMID:20031620|PMID:20110537|PMID:20122163|PMID:20139917|PMID:20300124|PMID:20307669|PMID:20360539|PMID:20367968|PMID:20464614|PMID:20498269|PMID:20505683|PMID:20615758|PMID:20628902|PMID:20629180|PMID:20716442|PMID:20821055|PMID:21062768|PMID:21092187|PMID:21138548|PMID:21229318|PMID:21333496|PMID:21353612|PMID:21517827|PMID:2152885|PMID:21549080|PMID:21587323|PMID:21598360|PMID:2160973|PMID:21683120|PMID:21700093|PMID:2171331|PMID:21804088|PMID:21890869|PMID:21896204|PMID:21946453|PMID:21972175|PMID:22004918|PMID:22063097|PMID:22078290|PMID:22176145|PMID:22205110|PMID:22226368|PMID:22227322|PMID:22241068|PMID:22305854|PMID:22336178|PMID:22378313|PMID:22406018|PMID:22437327|PMID:22472932|PMID:22498845|PMID:22551898|PMID:22563919|PMID:22682330|PMID:22695894|PMID:22773828|PMID:22805550|PMID:22874111|PMID:22880956|PMID:22905681|PMID:23109060|PMID:23146289|PMID:23210910|PMID:23219219|PMID:23248976|PMID:23305247|PMID:23306324|PMID:23307880|PMID:23332617|PMID:23378663|PMID:23387234|PMID:23393592|PMID:23430502|PMID:23430526|PMID:23430848|PMID:23430946|PMID:23465405|PMID:23474038|PMID:23537685|PMID:23566439|PMID:23568732|PMID:23591357|PMID:23608164|PMID:23677059|PMID:23691425|PMID:23724928|PMID:23756194|PMID:23818648|PMID:23826564|PMID:23867994|PMID:23913314|PMID:23922385|PMID:2393552|PMID:23935525|PMID:23980562|PMID:24015197|PMID:24033266|PMID:24082139|PMID:24094560|PMID:24236025|PMID:24334114|PMID:24365053|PMID:24380807|PMID:24386359|PMID:24395922|PMID:24503780|PMID:24582695|PMID:24613481|PMID:24626231|PMID:24626659|PMID:24661928|PMID:24718812|PMID:24784157|PMID:24829596|PMID:24830310|PMID:24980630|PMID:25026990|PMID:25040344|PMID:25078086|PMID:25149322|PMID:25179549|PMID:25319043|PMID:25382311|PMID:25386848|PMID:2539398|PMID:25409744|PMID:25439755|PMID:25468650|PMID:25468652|PMID:25487570|PMID:25511234|PMID:25525159|PMID:25531941|PMID:25596309|PMID:25611685|PMID:25619383|PMID:25637381|PMID:25640679|PMID:25655062|PMID:25663229|PMID:25741868|PMID:25750198|PMID:25762495|PMID:25772321|PMID:25795794|PMID:25835592|PMID:25900714|PMID:25955246|PMID:25974833|PMID:25977923|PMID:26044846|PMID:26047621|PMID:26070511|PMID:26083343|PMID:26179544|PMID:26238931|PMID:26252393|PMID:26272908|PMID:26297554|PMID:26298600|PMID:26305465|PMID:26333625|PMID:26384850|PMID:26415523|PMID:26424312|PMID:26456105|PMID:26490103|PMID:26563328|PMID:26593248 12257502 GLA galactosidase alpha gene DOID:14499 Fabry disease ISO RGD:1344140 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum | ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease PMID:26629990|PMID:26631895|PMID:26652600|PMID:26691501|PMID:26866599|PMID:26869469|PMID:26937405|PMID:26990548|PMID:27081853|PMID:27083555|PMID:27129690|PMID:27142856|PMID:27160240|PMID:27211852|PMID:27225851|PMID:27238910|PMID:27356758|PMID:27431810|PMID:2744760|PMID:27531472|PMID:27532257|PMID:27554049|PMID:27560961|PMID:27576502|PMID:27585509|PMID:27595546|PMID:27629047|PMID:27657681|PMID:27773586|PMID:27825144|PMID:27831900|PMID:27832731|PMID:27834756|PMID:27896102|PMID:27896103|PMID:27916943|PMID:27931613|PMID:27979989|PMID:27992580|PMID:28069318|PMID:28082092|PMID:28253518|PMID:28275245|PMID:28276057|PMID:28299312|PMID:28302345|PMID:28340691|PMID:28340804|PMID:28360401|PMID:2836863|PMID:28377241|PMID:28382085|PMID:28389313|PMID:28409012|PMID:28430823|PMID:28492532|PMID:28496025|PMID:28500230|PMID:28596458|PMID:28615118|PMID:28625968|PMID:28646478|PMID:28649509|PMID:28672034|PMID:28682471|PMID:28723748|PMID:28728877|PMID:28736719|PMID:28749998|PMID:28756410|PMID:28768754|PMID:28771489|PMID:28798024|PMID:28799081|PMID:28877708|PMID:28941980|PMID:28943383|PMID:28964554|PMID:28977874|PMID:28988177|PMID:29018006|PMID:29019163|PMID:29037082|PMID:29044343|PMID:29079200|PMID:29121657|PMID:29132836|PMID:29186537|PMID:29203563|PMID:29215092|PMID:29227985|PMID:29247119|PMID:29305833|PMID:29307789|PMID:29326878|PMID:29330335|PMID:29361493|PMID:29437868|PMID:29476735|PMID:29487688|PMID:29491734|PMID:29530533|PMID:29543226|PMID:29621274|PMID:29631605|PMID:29649853|PMID:29661900|PMID:29688992|PMID:29688998|PMID:29770213|PMID:29794742|PMID:29853467|PMID:29867742|PMID:29875425|PMID:29982630|PMID:30023289|PMID:30038331|PMID:30064518|PMID:30093709|PMID:30103270|PMID:30201457|PMID:30246259|PMID:30261035|PMID:30380558|PMID:30385651|PMID:30386727|PMID:30474596|PMID:30477121|PMID:30497360|PMID:30568064|PMID:30569317|PMID:30571380|PMID:30594474|PMID:30644091|PMID:30658922|PMID:30662066|PMID:30677769|PMID:30715505|PMID:30739116|PMID:30762167|PMID:30773290|PMID:30804731|PMID:30834538|PMID:30853972|PMID:30972193|PMID:30985853|PMID:30988410|PMID:31010832|PMID:31020198|PMID:31036492|PMID:31065389|PMID:31200018|PMID:31213654|PMID:31243236|PMID:31291414|PMID:31319156|PMID:31321922|PMID:31372342|PMID:31392112|PMID:31446751|PMID:31449323|PMID:31519519|PMID:31566927|PMID:31613176|PMID:31620600|PMID:31634893|PMID:31649303|PMID:31650418|PMID:31654629|PMID:31664448|PMID:31860127|PMID:31907047|PMID:31949022|PMID:31956509|PMID:31996269|PMID:32011328|PMID:32023956|PMID:32036093|PMID:32042454|PMID:32099817|PMID:32109691|PMID:32127409|PMID:32150461|PMID:32161151|PMID:32203225|PMID:32246457|PMID:32306159|PMID:32418857|PMID:32435590|PMID:32442237|PMID:32486191|PMID:32531501|PMID:32583479|PMID:32699723|PMID:32714835|PMID:32719972|PMID:32789421|PMID:32793709|PMID:32797665|PMID:32802993|PMID:32813676|PMID:32860008|PMID:32901917|PMID:32995357|PMID:33016649|PMID:33036343|PMID:33040545|PMID:33072983|PMID:33204599|PMID:33437642|PMID:33495303|PMID:33527381|PMID:33543778|PMID:33545641|PMID:33673806|PMID:33907643|PMID:34199132|PMID:34205365|PMID:34270679|PMID:34401344|PMID:34679477|PMID:34803097|PMID:34905550|PMID:36156392|PMID:6379599|PMID:7504405|PMID:7531540|PMID:7575533|PMID:7596372|PMID:7599642|PMID:7911050|PMID:7951217|PMID:8012363|PMID:8069316|PMID:8395937|PMID:8411052|PMID:8738659|PMID:8768754|PMID:8807334|PMID:8834244|PMID:8863162|PMID:8875188|PMID:8878432|PMID:8931708|PMID:8996967|PMID:9100224|PMID:9105656|PMID:9116979|PMID:9268104|PMID:9395081|PMID:9452068|PMID:9452090|PMID:9452111|PMID:9536098|PMID:9554750|PMID:9883849 12257502 GLA galactosidase alpha gene DOID:3211 lysosomal storage disease ISO RGD:1589721 D RGD:9068941 20211022 RGD PMID:29563343|REF_RGD_ID:150429980 12257502 GLA galactosidase alpha gene DOID:479 angiokeratoma ISO RGD:1344140 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19925601 12257502 GLA galactosidase alpha gene DOID:9000020 Fabry Disease, Cardiac Variant ISO RGD:1344140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fabry disease, cardiac variant PMID:10208848|PMID:10838196|PMID:10916280|PMID:11322659|PMID:11688386|PMID:11828341|PMID:12428061|PMID:1315715|PMID:15702404|PMID:16773563|PMID:17532296|PMID:17555407|PMID:1846223|PMID:19287194|PMID:19621417|PMID:19823873|PMID:20031620|PMID:20505683|PMID:20821055|PMID:21598360|PMID:2171331|PMID:22241068|PMID:22437327|PMID:23109060|PMID:23378663|PMID:23935525|PMID:24033266|PMID:24386359|PMID:24980630|PMID:25382311|PMID:25611685|PMID:25741868|PMID:26869469|PMID:27356758|PMID:27554049|PMID:27560961|PMID:27585509|PMID:27595546|PMID:27931613|PMID:28082092|PMID:28377241|PMID:28430823|PMID:28492532|PMID:28728877|PMID:29215092|PMID:29875425|PMID:30380558|PMID:30386727|PMID:30662066|PMID:30804731|PMID:31200018|PMID:31519519|PMID:32099817|PMID:7596372|PMID:8738659|PMID:9100224|PMID:9395081|PMID:9883849 12257502 GLA galactosidase alpha gene DOID:9000641 Pain ISO RGD:1589721 D RGD:9068941 20211022 RGD compared to wild type PMID:29563343|REF_RGD_ID:150429980 12257502 GLA galactosidase alpha gene DOID:9000641 Pain treatment ISO RGD:1589721 D RGD:9068941 20211022 RGD Allyl isothiocyanate (XCO:0000608) PMID:29563343|REF_RGD_ID:150429980 12257502 GLA galactosidase alpha gene DOID:9007096 Stroke ISO RGD:1344140 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:26415523|PMID:27916943|PMID:28253518|PMID:28492532|PMID:28728877|PMID:29794742|PMID:33495303 12257502 GLA galactosidase alpha gene DOID:9007820 Sudden Death ISO RGD:1344140 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:11668641|PMID:11914245|PMID:14635108|PMID:14680977|PMID:15806320|PMID:16232095|PMID:16754800|PMID:18057066|PMID:18154965|PMID:18297328|PMID:19373884|PMID:20110537|PMID:20122163|PMID:20360539|PMID:20464614|PMID:21229318|PMID:21517827|PMID:22226368|PMID:23219219|PMID:23393592|PMID:23430502|PMID:24033266|PMID:24829596|PMID:25078086|PMID:25637381|PMID:25741868|PMID:26415523|PMID:27832731|PMID:28276057|PMID:28492532|PMID:28988177|PMID:29037082|PMID:29044343|PMID:29530533|PMID:29631605|PMID:32109691|PMID:32246457|PMID:33543778|PMID:7504405|PMID:9452111 12257502 GLA galactosidase alpha gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1344140 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 12257513 SLC16A7 solute carrier family 16 member 7 gene DOID:630 genetic disease ISO RGD:1346247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257513 SLC16A7 solute carrier family 16 member 7 gene DOID:9970 obesity ISO RGD:1346247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12257533 PPP1R9A protein phosphatase 1 regulatory subunit 9A gene DOID:11832 visual epilepsy susceptibility ISO RGD:1552999 D RGD:9068941 20200609 RGD PMID:22357852|REF_RGD_ID:10043800 12257533 PPP1R9A protein phosphatase 1 regulatory subunit 9A gene DOID:12858 Huntington's disease ISO RGD:1350094 D RGD:9068941 20200609 RGD mRNA:decreased expression:caudate nucleus PMID:20089533|REF_RGD_ID:10043799 12257533 PPP1R9A protein phosphatase 1 regulatory subunit 9A gene DOID:12858 Huntington's disease ISO RGD:1552999 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum(mouse) PMID:20089533|REF_RGD_ID:10043799 12257533 PPP1R9A protein phosphatase 1 regulatory subunit 9A gene DOID:224 transient cerebral ischemia treatment ISO RGD:632280 D RGD:9068941 20200609 RGD PMID:21278085|REF_RGD_ID:10043805 12257533 PPP1R9A protein phosphatase 1 regulatory subunit 9A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12257533 PPP1R9A protein phosphatase 1 regulatory subunit 9A gene DOID:630 genetic disease ISO RGD:1350094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257533 PPP1R9A protein phosphatase 1 regulatory subunit 9A gene DOID:684 hepatocellular carcinoma onset ISO RGD:632280 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:20935162|REF_RGD_ID:10002734 12257533 PPP1R9A protein phosphatase 1 regulatory subunit 9A gene DOID:9000641 Pain treatment ISO RGD:632280 D RGD:9068941 20200609 RGD PMID:20359166|REF_RGD_ID:10002735 12257575 UPK1A uroplakin 1A gene DOID:0110222 Brugada syndrome 5 ISO RGD:1320413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12257575 UPK1A uroplakin 1A gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1320413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12257575 UPK1A uroplakin 1A gene DOID:543 dystonia ISO RGD:1320413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12257575 UPK1A uroplakin 1A gene DOID:630 genetic disease ISO RGD:1320413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257589 RNF126 ring finger protein 126 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1314381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 12257589 RNF126 ring finger protein 126 gene DOID:5339 cyclic hematopoiesis ISO RGD:1314381 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12257589 RNF126 ring finger protein 126 gene DOID:630 genetic disease ISO RGD:1314381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257602 TGM2 transglutaminase 2 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:732488 D RGD:9068941 20220825 MouseDO OMIM:606391 12257602 TGM2 transglutaminase 2 gene DOID:10608 celiac disease ISO RGD:732487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17190764 12257602 TGM2 transglutaminase 2 gene DOID:10763 hypertension ISO RGD:732487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17898543 12257602 TGM2 transglutaminase 2 gene DOID:1793 pancreatic cancer ISO RGD:732487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30108682 12257602 TGM2 transglutaminase 2 gene DOID:2234 focal epilepsy ISO RGD:732487 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12257602 TGM2 transglutaminase 2 gene DOID:3068 glioblastoma ISO RGD:732487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16170020|PMID:17099729 12257602 TGM2 transglutaminase 2 gene DOID:4450 renal cell carcinoma ISO RGD:732487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 12257602 TGM2 transglutaminase 2 gene DOID:5082 liver cirrhosis severity ISO RGD:732488 D RGD:9068941 20201015 RGD associated with Schistosomiasis Japonica PMID:31200771|REF_RGD_ID:39938956 12257602 TGM2 transglutaminase 2 gene DOID:5082 liver cirrhosis treatment ISO RGD:732488 D RGD:9068941 20201015 RGD associated with Schistosomiasis Japonica PMID:31200771|REF_RGD_ID:39938956 12257602 TGM2 transglutaminase 2 gene DOID:630 genetic disease ISO RGD:732487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257602 TGM2 transglutaminase 2 gene DOID:8398 osteoarthritis ISO RGD:732487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12257602 TGM2 transglutaminase 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:732487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17068819 12257602 TGM2 transglutaminase 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:621081 D RGD:9068941 20200609 RGD PMID:12702643|REF_RGD_ID:1302539 12257602 TGM2 transglutaminase 2 gene DOID:9007502 Brain Neoplasms ISO RGD:732487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16170020 12257602 TGM2 transglutaminase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579870 12257619 ASCC2 activating signal cointegrator 1 complex subunit 2 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1347917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 12257619 ASCC2 activating signal cointegrator 1 complex subunit 2 gene DOID:630 genetic disease ISO RGD:1347917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257619 ASCC2 activating signal cointegrator 1 complex subunit 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1347917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:21876083|PMID:24713400|PMID:28492532 12257652 MIER3 MIER family member 3 gene DOID:630 genetic disease ISO RGD:1605562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257652 MIER3 MIER family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12257676 NCEH1 neutral cholesterol ester hydrolase 1 gene DOID:1062 Fanconi syndrome ISO RGD:1606253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 12257676 NCEH1 neutral cholesterol ester hydrolase 1 gene DOID:14566 disease of cellular proliferation ISO RGD:1606253 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32171938 12257676 NCEH1 neutral cholesterol ester hydrolase 1 gene DOID:630 genetic disease ISO RGD:1606253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257685 SBK1 SH3 domain binding kinase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344532 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 12257685 SBK1 SH3 domain binding kinase 1 gene DOID:630 genetic disease ISO RGD:1344532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257694 MATN2 matrilin 2 gene DOID:630 genetic disease ISO RGD:1313328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257724 CCDC120 coiled-coil domain containing 120 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1606197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early onset epileptic encephalopathy PMID:26173968 12257724 CCDC120 coiled-coil domain containing 120 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12257724 CCDC120 coiled-coil domain containing 120 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1606197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12257724 CCDC120 coiled-coil domain containing 120 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1606197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12257724 CCDC120 coiled-coil domain containing 120 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1606197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12257724 CCDC120 coiled-coil domain containing 120 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1606197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12257724 CCDC120 coiled-coil domain containing 120 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1606197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12257724 CCDC120 coiled-coil domain containing 120 gene DOID:12849 autistic disorder ISO RGD:1606197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12257724 CCDC120 coiled-coil domain containing 120 gene DOID:630 genetic disease ISO RGD:1606197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257724 CCDC120 coiled-coil domain containing 120 gene DOID:9007661 Dwarfism ISO RGD:1606197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12257753 MLC1 modulator of VRAC current 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1318392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:16652334|PMID:21160490|PMID:23079554|PMID:23851226|PMID:25741868|PMID:27322623|PMID:28492532|PMID:33084218 12257753 MLC1 modulator of VRAC current 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12257753 MLC1 modulator of VRAC current 1 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1318392 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12257753 MLC1 modulator of VRAC current 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1318392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12257753 MLC1 modulator of VRAC current 1 gene DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts ISO RGD:1318392 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts PMID:11254442|PMID:11935341|PMID:12189496|PMID:12497630|PMID:12850517|PMID:12939431|PMID:14572144|PMID:14615938|PMID:15037685|PMID:15832614|PMID:15992519|PMID:16199547|PMID:16470554|PMID:16504440|PMID:16652334|PMID:17077634|PMID:18757878|PMID:19168821|PMID:21145992|PMID:21160490|PMID:21555057|PMID:21624973|PMID:22006981|PMID:22382567|PMID:22405205|PMID:22416245|PMID:22975760|PMID:23793458|PMID:24315536|PMID:24824219|PMID:25333069|PMID:25497041|PMID:25634434|PMID:25741868|PMID:25796299|PMID:26392452|PMID:27081509|PMID:27264811|PMID:27322623|PMID:28492532|PMID:31302377|PMID:32056211|PMID:33084218|PMID:34504271 12257753 MLC1 modulator of VRAC current 1 gene DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 ISO RGD:1318392 D RGD:7240710 20180711 OMIM 12257753 MLC1 modulator of VRAC current 1 gene DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 ISO RGD:1318392 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 PMID:11254442|PMID:11935341|PMID:12189496|PMID:12497630|PMID:12850517|PMID:12939431|PMID:14572144|PMID:14615938|PMID:15037685|PMID:15367490|PMID:15992519|PMID:16199547|PMID:16470554|PMID:16504440|PMID:16652334|PMID:17077634|PMID:17576681|PMID:18757878|PMID:19168821|PMID:20301707|PMID:20560255|PMID:21145992|PMID:21160490|PMID:21555057|PMID:21624973|PMID:22006981|PMID:22328087|PMID:22382567|PMID:22405205|PMID:22416245|PMID:22737209|PMID:22975760|PMID:23079554|PMID:23793458|PMID:23851226|PMID:24824219|PMID:25333069|PMID:25497041|PMID:25634434|PMID:25741868|PMID:25767710|PMID:25796299|PMID:26349194|PMID:26392452|PMID:27081509|PMID:27322623|PMID:28492532|PMID:28588848|PMID:28840990|PMID:32056211|PMID:33084218|PMID:34918859|PMID:9536098 12257753 MLC1 modulator of VRAC current 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1318392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12257753 MLC1 modulator of VRAC current 1 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1318392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12257753 MLC1 modulator of VRAC current 1 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1318392 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12257753 MLC1 modulator of VRAC current 1 gene DOID:1059 intellectual disability ISO RGD:1318392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12257753 MLC1 modulator of VRAC current 1 gene DOID:630 genetic disease ISO RGD:1318392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15992519|PMID:25741868|PMID:28492532 12257753 MLC1 modulator of VRAC current 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1318392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12257753 MLC1 modulator of VRAC current 1 gene DOID:9005369 Hepatomegaly ISO RGD:1318392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12257753 MLC1 modulator of VRAC current 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1318392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:11254442|PMID:12939431|PMID:16199547|PMID:16470554|PMID:24824219|PMID:25741868|PMID:27264811|PMID:28492532 12257779 RIMS3 regulating synaptic membrane exocytosis 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12257779 RIMS3 regulating synaptic membrane exocytosis 3 gene DOID:630 genetic disease ISO RGD:1347880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257798 BIN3 bridging integrator 3 gene DOID:630 genetic disease ISO RGD:1317921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257798 BIN3 bridging integrator 3 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1317921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12257811 PMS2 PMS1 homolog 2, mismatch repair system component gene DOID:630 genetic disease ISO RGD:2300131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257843 DKK1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:11832 visual epilepsy ISO RGD:1307313 D RGD:9068941 20200609 RGD PMID:17437412|REF_RGD_ID:6907384 12257843 DKK1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:13714 anodontia ISO RGD:1316435 D RGD:9068941 20200609 RGD DNA:SNP: :rs11001553 (human) PMID:22984994|REF_RGD_ID:12738234 12257843 DKK1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:289 endometriosis ISO RGD:1316435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12257843 DKK1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:630 genetic disease ISO RGD:1316435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257843 DKK1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1307313 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:20019166|REF_RGD_ID:6907383 12257843 DKK1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1307313 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21567076|REF_RGD_ID:6907380 12257843 DKK1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1316436 D RGD:9068941 20200609 RGD PMID:21773994|REF_RGD_ID:6907379 12257843 DKK1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1307313 D RGD:9068941 20200609 RGD PMID:20131282|REF_RGD_ID:6907382 12257843 DKK1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9002589 Bone Fractures ISO RGD:1316435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22504420 12257843 DKK1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9003536 Familial Thoracic Aortic Aneurysm 8 ISO RGD:1316435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 PMID:28492532 12257843 DKK1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9008763 Femoral Fractures ISO RGD:1307313 D RGD:9068941 20200609 RGD PMID:21773994|REF_RGD_ID:6907379 12257843 DKK1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1316435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18283316 12257851 PDLIM7 PDZ and LIM domain 7 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1606830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12257851 PDLIM7 PDZ and LIM domain 7 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1606830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12257851 PDLIM7 PDZ and LIM domain 7 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1606830 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 12257851 PDLIM7 PDZ and LIM domain 7 gene DOID:630 genetic disease ISO RGD:1606830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257851 PDLIM7 PDZ and LIM domain 7 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1606830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12257867 ZC3H4 zinc finger CCCH-type containing 4 gene DOID:630 genetic disease ISO RGD:1316321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257867 ZC3H4 zinc finger CCCH-type containing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12257886 DOCK9 dedicator of cytokinesis 9 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1348065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 12257886 DOCK9 dedicator of cytokinesis 9 gene DOID:4621 holoprosencephaly ISO RGD:1348065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 12257886 DOCK9 dedicator of cytokinesis 9 gene DOID:630 genetic disease ISO RGD:1348065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12257886 DOCK9 dedicator of cytokinesis 9 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1348065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12257985 NPTXR neuronal pentraxin receptor gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1607068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12257985 NPTXR neuronal pentraxin receptor gene DOID:2316 brain ischemia ISO RGD:628898 D RGD:9068941 20200609 RGD mRNA:decreased expression:neocortex PMID:12242102|REF_RGD_ID:1642302 12257985 NPTXR neuronal pentraxin receptor gene DOID:6000 congestive heart failure ISO RGD:628898 D RGD:9068941 20200609 RGD associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum PMID:16497176|REF_RGD_ID:1642301 12257985 NPTXR neuronal pentraxin receptor gene DOID:630 genetic disease ISO RGD:1607068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257998 WFDC10A WAP four-disulfide core domain 10A gene DOID:2234 focal epilepsy ISO RGD:1315782 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12257998 WFDC10A WAP four-disulfide core domain 10A gene DOID:630 genetic disease ISO RGD:1315782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12257998 WFDC10A WAP four-disulfide core domain 10A gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1315782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12258002 ID2 inhibitor of DNA binding 2 gene DOID:37 skin disease ISO RGD:732001 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12258002 ID2 inhibitor of DNA binding 2 gene DOID:50 thyroid gland disease ISO RGD:732001 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 12258002 ID2 inhibitor of DNA binding 2 gene DOID:5409 lung small cell carcinoma ISO RGD:732001 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:23582323 12258002 ID2 inhibitor of DNA binding 2 gene DOID:630 genetic disease ISO RGD:732001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12258002 ID2 inhibitor of DNA binding 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732001 D RGD:9068941 20210115 CTD CTD Direct Evidence: therapeutic PMID:17127702 12258002 ID2 inhibitor of DNA binding 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:732001 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12258002 ID2 inhibitor of DNA binding 2 gene DOID:9119 acute myeloid leukemia ISO RGD:732001 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12258006 ZNF784 zinc finger protein 784 gene DOID:630 genetic disease ISO RGD:1602066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12258012 MKRN2OS MKRN2 opposite strand gene DOID:630 genetic disease ISO RGD:6481351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12258022 RNF113A ring finger protein 113A gene DOID:0050437 Danon disease ISO RGD:1344435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 12258022 RNF113A ring finger protein 113A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12258022 RNF113A ring finger protein 113A gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1344435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 12258022 RNF113A ring finger protein 113A gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1344435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 12258022 RNF113A ring finger protein 113A gene DOID:0111868 nonphotosensitive trichothiodystrophy 5 ISO RGD:1344435 D RGD:7240710 20180130 OMIM 12258022 RNF113A ring finger protein 113A gene DOID:0111868 nonphotosensitive trichothiodystrophy 5 ISO RGD:1344435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 5, nonphotosensitive PMID:25612912|PMID:25741868|PMID:29144457|PMID:31793730|PMID:31880405 12258022 RNF113A ring finger protein 113A gene DOID:12849 autistic disorder ISO RGD:1344435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12258022 RNF113A ring finger protein 113A gene DOID:630 genetic disease ISO RGD:1344435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12258022 RNF113A ring finger protein 113A gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1344435 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 12258027 IFT56 intraflagellar transport 56 gene DOID:0050876 Caroli disease ISO RGD:1605330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Caroli disease PMID:31595528|PMID:32617964 12258027 IFT56 intraflagellar transport 56 gene DOID:0080690 RASopathy ISO RGD:1605330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12258027 IFT56 intraflagellar transport 56 gene DOID:10908 hydrocephalus ISO RGD:1605330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:31595528|PMID:34177428 12258027 IFT56 intraflagellar transport 56 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12258027 IFT56 intraflagellar transport 56 gene DOID:630 genetic disease ISO RGD:1605330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12258027 IFT56 intraflagellar transport 56 gene DOID:9003053 BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME ISO RGD:1605330 D RGD:7240710 20211208 OMIM 12258027 IFT56 intraflagellar transport 56 gene DOID:9003053 BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME ISO RGD:1605330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Biliary, renal, neurologic, and skeletal syndrome PMID:31595528|PMID:32617964|PMID:34177428 12258052 P2RY8 P2Y receptor family member 8 gene DOID:12849 autistic disorder ISO RGD:1350225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12258052 P2RY8 P2Y receptor family member 8 gene DOID:13938 amenorrhea ISO RGD:1350225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12258052 P2RY8 P2Y receptor family member 8 gene DOID:9538 multiple myeloma ISO RGD:1350225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12258052 P2RY8 P2Y receptor family member 8 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1350225 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:19838194 12258061 PLEKHG7 pleckstrin homology and RhoGEF domain containing G7 gene DOID:630 genetic disease ISO RGD:1604901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12258079 MIR221 microRNA mir-221 gene DOID:0050866 oral squamous cell carcinoma exacerbates ISO RGD:1349484 D RGD:9068941 20220421 RGD PMID:21226887|REF_RGD_ID:151708999 12258079 MIR221 microRNA mir-221 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12258079 MIR221 microRNA mir-221 gene DOID:0080547 non-alcoholic steatohepatitis disease_progression ISO RGD:1349484 D RGD:9068941 20220421 RGD PMID:22267590|REF_RGD_ID:151709001 12258079 MIR221 microRNA mir-221 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:1608224 D RGD:9068941 20200609 RGD PMID:30316865|REF_RGD_ID:18337274 12258079 MIR221 microRNA mir-221 gene DOID:10534 stomach cancer ISO RGD:1349484 D RGD:9068941 20220421 RGD RNA:increased expression:plasma PMID:30880765|REF_RGD_ID:151709006 12258079 MIR221 microRNA mir-221 gene DOID:11054 urinary bladder cancer ISO RGD:1349484 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 12258079 MIR221 microRNA mir-221 gene DOID:11446 sciatic neuropathy ISO RGD:2325451 D RGD:9068941 20220428 RGD RNA:increased expression:sciatic nerve: PMID:22393241|REF_RGD_ID:11041067 12258079 MIR221 microRNA mir-221 gene DOID:12849 autistic disorder ISO RGD:1349484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12258079 MIR221 microRNA mir-221 gene DOID:1612 breast cancer ISO RGD:2325451 D RGD:9068941 20220428 RGD RNA:increased expression:serum, thoracic lymph node,breast PMID:32157513|REF_RGD_ID:152025189 12258079 MIR221 microRNA mir-221 gene DOID:3963 thyroid gland carcinoma ISO RGD:1349484 D RGD:9068941 20220428 RGD RNA:increased expression:thyroid gland PMID:16728577|REF_RGD_ID:152023739 12258079 MIR221 microRNA mir-221 gene DOID:3963 thyroid gland carcinoma ISO RGD:1608224 D RGD:9068941 20220428 RGD RNA:increased expression:thyroid gland PMID:16728577|REF_RGD_ID:152023739 12258079 MIR221 microRNA mir-221 gene DOID:4928 intrahepatic cholangiocarcinoma severity ISO RGD:1349484 D RGD:9068941 20200609 RGD PMID:27685844|REF_RGD_ID:14928335 12258079 MIR221 microRNA mir-221 gene DOID:5082 liver cirrhosis ISO RGD:1608224 D RGD:9068941 20220421 RGD RNA:increased expression:liver PMID:22267590|REF_RGD_ID:151709001 12258079 MIR221 microRNA mir-221 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1349484 D RGD:9068941 20200609 RGD PMID:25817558|PMID:29713162|REF_RGD_ID:11086123|REF_RGD_ID:18337267 12258079 MIR221 microRNA mir-221 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1349484 D RGD:9068941 20200609 RGD PMID:22009537|PMID:28096271|PMID:29713162|REF_RGD_ID:18337267|REF_RGD_ID:18337273|REF_RGD_ID:18337275 12258079 MIR221 microRNA mir-221 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1608224 D RGD:9068941 20200609 RGD PMID:28096271|REF_RGD_ID:18337275 12258079 MIR221 microRNA mir-221 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2325451 D RGD:9068941 20220422 RGD PMID:28096271|PMID:31801250|REF_RGD_ID:151893509|REF_RGD_ID:18337275 12258079 MIR221 microRNA mir-221 gene DOID:83 cataract ISO RGD:1349484 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926320 12258079 MIR221 microRNA mir-221 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349484 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 12258079 MIR221 microRNA mir-221 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1349484 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12258079 MIR221 microRNA mir-221 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1349484 D RGD:9068941 20220217 RGD RNA:increased expression:lung,pulmonary artery smooth muscle cell PMID:28694128|REF_RGD_ID:151356920 12258079 MIR221 microRNA mir-221 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:2325451 D RGD:9068941 20220217 RGD RNA:increased expression:lung,pulmonary artery smooth muscle cell PMID:28694128|REF_RGD_ID:151356920 12258079 MIR221 microRNA mir-221 gene DOID:9001820 Pulmonary Arterial Hypertension ameliorates ISO RGD:2325451 D RGD:9068941 20220217 RGD PMID:28694128|REF_RGD_ID:151356920 12258079 MIR221 microRNA mir-221 gene DOID:9003139 Cardiac Fibrosis severity ISO RGD:1349484 D RGD:9068941 20200609 RGD associated with dilated cardiomyopathy; PMID:29255073|REF_RGD_ID:18337269 12258079 MIR221 microRNA mir-221 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12258079 MIR221 microRNA mir-221 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:1608224 D RGD:9068941 20200609 RGD PMID:21400558|REF_RGD_ID:18337268 12258079 MIR221 microRNA mir-221 gene DOID:9005968 Neuralgia treatment ISO RGD:2325451 D RGD:9068941 20220121 RGD PMID:27059231|REF_RGD_ID:151347419 12258079 MIR221 microRNA mir-221 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349484 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12258079 MIR221 microRNA mir-221 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1349484 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22048643 12258079 MIR221 microRNA mir-221 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1349484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 12258079 MIR221 microRNA mir-221 gene DOID:9008939 Breast Neoplasms ISO RGD:1349484 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 12258079 MIR221 microRNA mir-221 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731382 D RGD:9068941 20220421 RGD PMID:21132270|REF_RGD_ID:151709005 12258079 MIR221 microRNA mir-221 gene DOID:9256 colorectal cancer ISO RGD:1349484 D RGD:9068941 20220421 RGD RNA:increased expression:colorectum PMID:24931456|REF_RGD_ID:151708745 12258079 MIR221 microRNA mir-221 gene DOID:9256 colorectal cancer ISO RGD:1349484 D RGD:9068941 20220721 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12258079 MIR221 microRNA mir-221 gene DOID:9351 diabetes mellitus ISO RGD:2325451 D RGD:9068941 20220429 RGD RNA:increased expression:mandible PMID:32194220|REF_RGD_ID:152025220 12258079 MIR221 microRNA mir-221 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349484 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12258137 APLP1 amyloid beta precursor like protein 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:736696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12258137 APLP1 amyloid beta precursor like protein 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:736696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12258137 APLP1 amyloid beta precursor like protein 1 gene DOID:630 genetic disease ISO RGD:736696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12258165 CEP112 centrosomal protein 112 gene DOID:0112109 spermatogenic failure 44 ISO RGD:1604510 D RGD:7240710 20201021 OMIM 12258165 CEP112 centrosomal protein 112 gene DOID:0112109 spermatogenic failure 44 ISO RGD:1604510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 44 PMID:31654588 12258165 CEP112 centrosomal protein 112 gene DOID:630 genetic disease ISO RGD:1604510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12258196 PHKA2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1344785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12258196 PHKA2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12258196 PHKA2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1344785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12258196 PHKA2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1344785 D RGD:7240710 20180130 OMIM 12258196 PHKA2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1344785 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar Annotator: match by term: Glycogen storage disease IXa2 | ClinVar Annotator: match by term: LIVER GLYCOGENOSIS, X-LINKED, TYPE I PMID:10330341|PMID:11286390|PMID:12862311|PMID:16199547|PMID:17304053|PMID:17576681|PMID:17689125|PMID:18076117|PMID:19763152|PMID:20307669|PMID:21634085|PMID:21646031|PMID:21857251|PMID:21911307|PMID:22406018|PMID:22899091|PMID:2303074|PMID:23578772|PMID:24055370|PMID:25070466|PMID:25266922|PMID:25315662|PMID:25741868|PMID:25741869|PMID:26157701|PMID:26944031|PMID:27103379|PMID:28085675|PMID:28283841|PMID:28468868|PMID:28492532|PMID:28600779|PMID:28627441|PMID:30659246|PMID:30945684|PMID:31248825|PMID:31508908|PMID:31987065|PMID:32244026|PMID:32387637|PMID:34117828|PMID:34277355|PMID:5306139|PMID:7711737|PMID:7847371|PMID:7959740|PMID:8733133|PMID:8733134|PMID:9536098|PMID:9600238|PMID:9835437|PMID:9870210 12258196 PHKA2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:12849 autistic disorder ISO RGD:1344785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12258196 PHKA2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:2747 glycogen storage disease ISO RGD:1344785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7711737 12258196 PHKA2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:2747 glycogen storage disease ISO RGD:1344785 D RGD:9068941 20200609 RGD glycogen storage disease IXa,OMIM:306000;DNA:point mutations,deletion,insertion PMID:7711737|REF_RGD_ID:1601388 12258196 PHKA2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:2751 glycogen storage disease VIII ISO RGD:1344785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Phosphorylase kinase deficiency of liver 12258196 PHKA2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1344785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12258196 PHKA2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1344785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10330341|PMID:12862311|PMID:17576681|PMID:17689125|PMID:23578772|PMID:25741868|PMID:27103379|PMID:28283841|PMID:28492532|PMID:28627441|PMID:31508908|PMID:34117828|PMID:9536098 12258196 PHKA2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:1344785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:17172462|PMID:20591708|PMID:21914562|PMID:22473288|PMID:28492532|PMID:9618178 12258196 PHKA2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12258235 NAV3 neuron navigator 3 gene DOID:12849 autistic disorder ISO RGD:1314915 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:35982159 12258235 NAV3 neuron navigator 3 gene DOID:2559 opiate dependence ISO RGD:1314915 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 12258235 NAV3 neuron navigator 3 gene DOID:4450 renal cell carcinoma ISO RGD:1314915 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 12258235 NAV3 neuron navigator 3 gene DOID:630 genetic disease ISO RGD:1314915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12258295 RNF217 ring finger protein 217 gene DOID:2377 multiple sclerosis ISO RGD:1315678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to 12258295 RNF217 ring finger protein 217 gene DOID:630 genetic disease ISO RGD:1315678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12258305 BTRC beta-transducin repeat containing E3 ubiquitin protein ligase gene DOID:0090020 split hand-foot malformation ISO RGD:1347748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation PMID:21681106 12258305 BTRC beta-transducin repeat containing E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:1347748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12258333 ZRANB2 zinc finger RANBP2-type containing 2 gene DOID:1059 intellectual disability ISO RGD:736628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12258333 ZRANB2 zinc finger RANBP2-type containing 2 gene DOID:630 genetic disease ISO RGD:736628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:0050576 Senior-Loken syndrome ISO RGD:1344161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia PMID:18414213|PMID:21258341|PMID:24876116|PMID:25741868|PMID:26940125|PMID:28492532|PMID:29127259|PMID:33532864 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1344161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:16199547|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18414213|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:22773737|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24033266|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25640679|PMID:25741868|PMID:26068938|PMID:26489029|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:30655312|PMID:32173348|PMID:33532864|PMID:9536098 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1344161 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome PMID:16199547|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18414213|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:22773737|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24033266|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25640679|PMID:25741868|PMID:26068938|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:30655312|PMID:32173348|PMID:33532864|PMID:9536098 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome PMID:15133511|PMID:16199547|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18414213|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:22773737|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24033266|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25640679|PMID:25741868|PMID:26068938|PMID:26489029|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:30655312|PMID:32173348|PMID:33532864|PMID:9536098 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14738421|PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23195492|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:0050777 Joubert syndrome ISO RGD:1344161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1344161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:18414213|PMID:21258341|PMID:24876116|PMID:25741868|PMID:26940125|PMID:28492532|PMID:29127259|PMID:33532864 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:0110088 asphyxiating thoracic dystrophy 4 ISO RGD:1344161 D RGD:7240710 20180130 OMIM 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:0110088 asphyxiating thoracic dystrophy 4 ISO RGD:1344161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY PMID:16199547|PMID:17576681|PMID:18327258|PMID:18414213|PMID:21068128|PMID:21258341|PMID:22773737|PMID:23559409|PMID:24033266|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:30655312|PMID:33532864|PMID:9536098 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1344161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:18327258|PMID:21068128|PMID:21258341|PMID:23559409|PMID:24876116|PMID:25492405|PMID:27491411|PMID:28492532|PMID:29068549 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:0110980 Joubert syndrome 1 ISO RGD:1344161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1 PMID:21258341|PMID:24033266|PMID:25741868|PMID:28492532 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:0111112 nephronophthisis 1 ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:0111113 nephronophthisis 2 ISO RGD:1344161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile nephronophthisis PMID:16199547|PMID:18327258|PMID:18414213|PMID:21068128|PMID:21258341|PMID:23559409|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:33532864 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:0111119 nephronophthisis 12 ISO RGD:1344161 D RGD:7240710 20180130 OMIM 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:0111119 nephronophthisis 12 ISO RGD:1344161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 12 PMID:16199547|PMID:17576681|PMID:18327258|PMID:18414213|PMID:21068128|PMID:21258341|PMID:22773737|PMID:23559409|PMID:24033266|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:33532864|PMID:9536098 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:0111295 generalized epilepsy with febrile seizures plus 7 ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14738421|PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23195492|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:1184 nephrotic syndrome ISO RGD:1344161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:18414213|PMID:21258341|PMID:24876116|PMID:25741868|PMID:26940125|PMID:28492532|PMID:29127259|PMID:32173348|PMID:33532864 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:12712 nephronophthisis ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549|PMID:30655312 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:14777 benign familial neonatal epilepsy ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial neonatal seizures PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:2975 cystic kidney disease ISO RGD:1557198 D RGD:9068941 20220825 MouseDO 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:303 substance-related disorder ISO RGD:1344161 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:557 kidney disease ISO RGD:1344161 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258341 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:630 genetic disease ISO RGD:1344161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:65 connective tissue disease ISO RGD:1344161 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:18414213|PMID:21258341|PMID:24033266|PMID:25741868|PMID:28492532 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:65 connective tissue disease ISO RGD:1344161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:18414213|PMID:21258341|PMID:24033266|PMID:25741868|PMID:26489029|PMID:28492532 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:784 chronic kidney disease ISO RGD:1344161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:24033266|PMID:25741868|PMID:28492532 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:8501 fundus dystrophy ISO RGD:1344161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:18327258|PMID:18414213|PMID:21068128|PMID:21258341|PMID:23559409|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:33532864 12258346 TTC21B tetratricopeptide repeat domain 21B gene DOID:9249 Beemer-Langer syndrome ISO RGD:1344161 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome PMID:18327258|PMID:21068128|PMID:21258341|PMID:23559409|PMID:24876116|PMID:25492405|PMID:25741868|PMID:27491411|PMID:28492532|PMID:29068549 12258379 CYTH3 cytohesin 3 gene DOID:630 genetic disease ISO RGD:1348510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12258396 CEP19 centrosomal protein 19 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1602846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 12258396 CEP19 centrosomal protein 19 gene DOID:12849 autistic disorder ISO RGD:1602846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12258396 CEP19 centrosomal protein 19 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:29127258 12258396 CEP19 centrosomal protein 19 gene DOID:5419 schizophrenia ISO RGD:1602846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12258396 CEP19 centrosomal protein 19 gene DOID:630 genetic disease ISO RGD:1602846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12258396 CEP19 centrosomal protein 19 gene DOID:9004698 Morbid Obesity and Spermatogenic Failure ISO RGD:1602846 D RGD:7240710 20180130 OMIM 12258396 CEP19 centrosomal protein 19 gene DOID:9004698 Morbid Obesity and Spermatogenic Failure ISO RGD:1602846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure PMID:24268657|PMID:25741868|PMID:28492532 12258411 NKAIN3 sodium/potassium transporting ATPase interacting 3 gene DOID:630 genetic disease ISO RGD:1606659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12258425 IRGQ immunity related GTPase Q gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1606733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12258425 IRGQ immunity related GTPase Q gene DOID:10283 prostate cancer ISO RGD:1606733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12258425 IRGQ immunity related GTPase Q gene DOID:5419 schizophrenia ISO RGD:1606733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12258425 IRGQ immunity related GTPase Q gene DOID:630 genetic disease ISO RGD:1606733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12258450 CAPN3 calpain 3 gene DOID:0050557 congenital muscular dystrophy ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17318636|PMID:17702496|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:28492532|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 12258450 CAPN3 calpain 3 gene DOID:0080000 muscular disease ISO RGD:731876 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17318636|PMID:17702496|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:28492532|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 12258450 CAPN3 calpain 3 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:731876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:10330340|PMID:10679950|PMID:11053681|PMID:11166169|PMID:11297944|PMID:11371436|PMID:12461690|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:15733273|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16627476|PMID:16650086|PMID:16971480|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17562833|PMID:17702496|PMID:17994539|PMID:18055493|PMID:18258189|PMID:18334579|PMID:18337726|PMID:18414213|PMID:18563459|PMID:18854868|PMID:18854869|PMID:19015733|PMID:19226146|PMID:19285864|PMID:19556129|PMID:19835634|PMID:20517216|PMID:20635405|PMID:20694146|PMID:21204801|PMID:21984748|PMID:22378277|PMID:22443334|PMID:22926650|PMID:23169433|PMID:24033266|PMID:24715573|PMID:24803842|PMID:25046369|PMID:25079074|PMID:25135358|PMID:25252031|PMID:25741868|PMID:26301378|PMID:26363099|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26632398|PMID:26810512|PMID:26886200|PMID:27023906|PMID:27055500|PMID:27066551|PMID:27066573|PMID:27142102|PMID:27431290|PMID:27447704|PMID:27558075|PMID:27708273|PMID:28403181|PMID:28492532|PMID:28914264|PMID:30028523|PMID:30564623|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31555977|PMID:31788660|PMID:31862442|PMID:31931849|PMID:32342993|PMID:32403337|PMID:32528171|PMID:32557990|PMID:3258171|PMID:32668095|PMID:32896923|PMID:33250842|PMID:33337384|PMID:34355366|PMID:34440373|PMID:34720847|PMID:35309930|PMID:7720071|PMID:9150160|PMID:9266733|PMID:9642272|PMID:9762961 12258450 CAPN3 calpain 3 gene DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A ISO RGD:731876 D RGD:7240710 20180130 OMIM 12258450 CAPN3 calpain 3 gene DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A ISO RGD:731876 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2A | ClinVar Annotator: match by term: Leyden-Moebius muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A PMID:10102422|PMID:10330340|PMID:10567047|PMID:10679950|PMID:11053681|PMID:11166169|PMID:11245732|PMID:11297944|PMID:11371436|PMID:11525884|PMID:11731278|PMID:12461690|PMID:12890817|PMID:14578192|PMID:14645990|PMID:14959561|PMID:14981715|PMID:15138196|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:15733273|PMID:15843148|PMID:15884399|PMID:16001438|PMID:16100770|PMID:16141003|PMID:16199547|PMID:16372320|PMID:16411092|PMID:16542520|PMID:16607617|PMID:16627476|PMID:16650086|PMID:16816913|PMID:1691480|PMID:16971480|PMID:17157502|PMID:17236769|PMID:17258832|PMID:17318636|PMID:17526799|PMID:17562833|PMID:17576681|PMID:17594342|PMID:17596655|PMID:17702496|PMID:17897828|PMID:17979987|PMID:17994539|PMID:18055493|PMID:18073330|PMID:18258189|PMID:18334579|PMID:18337726|PMID:18414213|PMID:18563459|PMID:18854868|PMID:18854869|PMID:19015733|PMID:19048948|PMID:19156839|PMID:19226146|PMID:19285864|PMID:19364062|PMID:19556129|PMID:19763152|PMID:19835634|PMID:20044116|PMID:20307669|PMID:20477750|PMID:205172126|PMID:20517216|PMID:20580976|PMID:20635405|PMID:20686710|PMID:20694146|PMID:21172462|PMID:21204801|PMID:21288883|PMID:21386772|PMID:21520333|PMID:21624972|PMID:21896784|PMID:21984748|PMID:22006685|PMID:22057634|PMID:22079131|PMID:22158424|PMID:22378277|PMID:22406018|PMID:22443334|PMID:22486197|PMID:22505582|PMID:22926650|PMID:23169433|PMID:23553538|PMID:23597518|PMID:23666804|PMID:23677060|PMID:23757202|PMID:23821418|PMID:24033266|PMID:24715573|PMID:24803842|PMID:24846670|PMID:25046369|PMID:25079074|PMID:25135358|PMID:25214167|PMID:25215589|PMID:25252031|PMID:25326637|PMID:25512505|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25783436|PMID:25987458|PMID:26060040|PMID:26301378|PMID:26363099|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26501342|PMID:26583491|PMID:26632398|PMID:26677118|PMID:26810512|PMID:26886200|PMID:27011640|PMID:27020652|PMID:27023906|PMID:27055500|PMID:27066545|PMID:27066551|PMID:27066573|PMID:27081656|PMID:27142102|PMID:27234031|PMID:27259757|PMID:27262448|PMID:27363342|PMID:27431290|PMID:27447704|PMID:27500519|PMID:27558075|PMID:27671536|PMID:27708273|PMID:27818383|PMID:27854218|PMID:27884173|PMID:28103310|PMID:28300015|PMID:28403181|PMID:28492532|PMID:28602176|PMID:28877744|PMID:28881388|PMID:28914264|PMID:28915917|PMID:29149851|PMID:29685414|PMID:29797799|PMID:29970176|PMID:30028523|PMID:30056071|PMID:30107846|PMID:30538847|PMID:30564623|PMID:30919934|PMID:31066050|PMID:31127727|PMID:31130284|PMID:31263448|PMID:31268554|PMID:31410652|PMID:31517061|PMID:31555977|PMID:31671740|PMID:31788660|PMID:31862442|PMID:31931849|PMID:31937337|PMID:32140910|PMID:32342993|PMID:32403337|PMID:32528171|PMID:32557990|PMID:32576226|PMID:3258171|PMID:32668095|PMID:32896923|PMID:32994280|PMID:33250842|PMID:33335567|PMID:33337384|PMID:34008892|PMID:34355366|PMID:34440373|PMID:34602496|PMID:34697879|PMID:34720847|PMID:35169782|PMID:35309930|PMID:7318636|PMID:7720071|PMID:7762565|PMID:7795603|PMID:8624690|PMID:9150160|PMID:9246005|PMID:9266733|PMID:9452114|PMID:9536098|PMID:9642272|PMID:9655129|PMID:9762961|PMID:9771675|PMID:9777948 12258450 CAPN3 calpain 3 gene DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B PMID:25741868|PMID:31263448 12258450 CAPN3 calpain 3 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:17979987|PMID:18055493|PMID:20635405|PMID:21204801|PMID:21984748|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 12258450 CAPN3 calpain 3 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:731876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:11371436|PMID:15221789|PMID:16141003|PMID:18854869|PMID:19226146|PMID:20635405|PMID:25046369|PMID:25741868|PMID:26404900|PMID:26467025|PMID:28492532 12258450 CAPN3 calpain 3 gene DOID:2717 Bloom syndrome ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12258450 CAPN3 calpain 3 gene DOID:318 progressive muscular atrophy ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive spinal muscular atrophy PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:17979987|PMID:18055493|PMID:20635405|PMID:21204801|PMID:21984748|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 12258450 CAPN3 calpain 3 gene DOID:423 myopathy ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17318636|PMID:17702496|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:28492532|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 12258450 CAPN3 calpain 3 gene DOID:630 genetic disease ISO RGD:731876 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:35169782 12258450 CAPN3 calpain 3 gene DOID:6364 migraine ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Migraine Disorders PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:17979987|PMID:18055493|PMID:20635405|PMID:21204801|PMID:21984748|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 12258450 CAPN3 calpain 3 gene DOID:684 hepatocellular carcinoma ISO RGD:2269 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:10806331|REF_RGD_ID:1600777 12258450 CAPN3 calpain 3 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:15733273|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17236769|PMID:17318636|PMID:17702496|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26501342|PMID:27142102|PMID:28492532|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 12258450 CAPN3 calpain 3 gene DOID:9003242 Paresthesia ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paresthesia PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:17979987|PMID:18055493|PMID:20635405|PMID:21204801|PMID:21984748|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 12258450 CAPN3 calpain 3 gene DOID:9003997 Familial Idiopathic Inflammatory Myopathy ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial idiopathic inflammatory myopathy PMID:25741868|PMID:28492532 12258450 CAPN3 calpain 3 gene DOID:9005532 Muscle Weakness ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:15733273|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17236769|PMID:17318636|PMID:17702496|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26501342|PMID:27142102|PMID:28492532|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 12258450 CAPN3 calpain 3 gene DOID:9006843 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 ISO RGD:731876 D RGD:7240710 20190911 OMIM 12258450 CAPN3 calpain 3 gene DOID:9006843 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 ISO RGD:731876 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1I | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 4 PMID:10102422|PMID:10330340|PMID:10679950|PMID:11371436|PMID:12461690|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16542520|PMID:16627476|PMID:16650086|PMID:16971480|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17526799|PMID:17576681|PMID:17702496|PMID:17897828|PMID:17979987|PMID:17994539|PMID:18055493|PMID:18258189|PMID:18334579|PMID:18337726|PMID:18414213|PMID:18563459|PMID:18854869|PMID:19015733|PMID:19048948|PMID:19156839|PMID:19226146|PMID:19556129|PMID:19835634|PMID:20044116|PMID:20517216|PMID:20635405|PMID:20694146|PMID:21204801|PMID:21984748|PMID:22006685|PMID:22378277|PMID:22443334|PMID:24033266|PMID:25079074|PMID:25135358|PMID:25252031|PMID:25326637|PMID:25512505|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26632398|PMID:26677118|PMID:26886200|PMID:27055500|PMID:27066545|PMID:27066551|PMID:27142102|PMID:27234031|PMID:27259757|PMID:27363342|PMID:27447704|PMID:27708273|PMID:27818383|PMID:27884173|PMID:28492532|PMID:28602176|PMID:28881388|PMID:28914264|PMID:30028523|PMID:30564623|PMID:30919934|PMID:31066050|PMID:31263448|PMID:31517061|PMID:31788660|PMID:31931849|PMID:32403337|PMID:32528171|PMID:3258171|PMID:32668095|PMID:34440373|PMID:34720847|PMID:7720071|PMID:8624690|PMID:9150160|PMID:9266733|PMID:9536098|PMID:9642272|PMID:9762961|PMID:9777948 12258450 CAPN3 calpain 3 gene DOID:9007114 Mobility Limitation ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:17979987|PMID:18055493|PMID:20635405|PMID:21204801|PMID:21984748|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 12258450 CAPN3 calpain 3 gene DOID:9256 colorectal cancer ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:28492532 12258450 CAPN3 calpain 3 gene DOID:9884 muscular dystrophy ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:15733273|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17236769|PMID:17318636|PMID:17702496|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26501342|PMID:27142102|PMID:28492532|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 12258450 CAPN3 calpain 3 gene DOID:9884 muscular dystrophy susceptibility ISO RGD:731876 D RGD:9068941 20200609 RGD Muscular Dystrophies, Limb-Girdle, type 2A, OMIM:114240;DNA:mutations PMID:9150160|REF_RGD_ID:1600769 12258492 DONSON DNA replication fork stabilization factor DONSON gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12258492 DONSON DNA replication fork stabilization factor DONSON gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1603397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:25741868|PMID:31784481 12258492 DONSON DNA replication fork stabilization factor DONSON gene DOID:0060898 Parkinson's disease 20 ISO RGD:1603397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12258492 DONSON DNA replication fork stabilization factor DONSON gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1603397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12258492 DONSON DNA replication fork stabilization factor DONSON gene DOID:0080512 Meier-Gorlin syndrome 1 ISO RGD:1603397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 PMID:25741868 12258492 DONSON DNA replication fork stabilization factor DONSON gene DOID:10907 microcephaly ISO RGD:1603397 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191891 12258492 DONSON DNA replication fork stabilization factor DONSON gene DOID:630 genetic disease ISO RGD:1603397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28191891|PMID:28331220|PMID:28492532|PMID:28630177|PMID:31407851 12258492 DONSON DNA replication fork stabilization factor DONSON gene DOID:9002621 Microcephaly-Micromelia Syndrome ISO RGD:1603397 D RGD:7240710 20200923 OMIM 12258492 DONSON DNA replication fork stabilization factor DONSON gene DOID:9002621 Microcephaly-Micromelia Syndrome ISO RGD:1603397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly-micromelia syndrome PMID:25741868|PMID:28191891|PMID:28331220|PMID:28492532|PMID:28630177|PMID:31407851|PMID:34645488 12258492 DONSON DNA replication fork stabilization factor DONSON gene DOID:9002832 Microcephaly, Short Stature, and Limb Abnormalities ISO RGD:1603397 D RGD:7240710 20190315 OMIM 12258492 DONSON DNA replication fork stabilization factor DONSON gene DOID:9002832 Microcephaly, Short Stature, and Limb Abnormalities ISO RGD:1603397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly, short stature, and limb abnormalities PMID:25741868|PMID:28191891|PMID:28331220|PMID:28492532|PMID:28630177|PMID:31407851|PMID:34645488|PMID:8434992 12258492 DONSON DNA replication fork stabilization factor DONSON gene DOID:9005698 ZTTK Syndrome ISO RGD:1603397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 12258492 DONSON DNA replication fork stabilization factor DONSON gene DOID:9007661 Dwarfism ISO RGD:1603397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:28191891|PMID:28331220|PMID:28492532|PMID:31407851 12258492 DONSON DNA replication fork stabilization factor DONSON gene DOID:9008443 Colorectal Neoplasms ISO RGD:1603397 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 12258553 PLAU plasminogen activator, urokinase gene DOID:0050127 sinusitis ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:21711960|REF_RGD_ID:6483796 12258553 PLAU plasminogen activator, urokinase gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18491991 12258553 PLAU plasminogen activator, urokinase gene DOID:0050855 renal fibrosis ISO RGD:733174 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:15882265|PMID:19690163|REF_RGD_ID:7241138|REF_RGD_ID:7241268 12258553 PLAU plasminogen activator, urokinase gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:oral mucosa (rat) PMID:15878520|REF_RGD_ID:8547730 12258553 PLAU plasminogen activator, urokinase gene DOID:0060903 thrombosis ISO RGD:3343 D RGD:9068941 20200609 RGD protein:increased activity:extracellular region (rat) PMID:20016209|REF_RGD_ID:2325698 12258553 PLAU plasminogen activator, urokinase gene DOID:0060903 thrombosis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12830724|PMID:2106299|PMID:2133253|PMID:2795766|PMID:4884574|PMID:8657906 12258553 PLAU plasminogen activator, urokinase gene DOID:0080348 Alzheimer's disease 1 susceptibility ISO RGD:735727 D RGD:7240710 20230517 OMIM 12258553 PLAU plasminogen activator, urokinase gene DOID:0080653 urolithiasis ISO RGD:735727 D RGD:9068941 20200609 RGD DNA:snp:3' utr:g.4065C>T (human) PMID:18240004|REF_RGD_ID:7241142 12258553 PLAU plasminogen activator, urokinase gene DOID:0111050 Quebec platelet disorder ISO RGD:735727 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Quebec platelet disorder PMID:12689937|PMID:18988861|PMID:20007542|PMID:22102275|PMID:25741868|PMID:28301587|PMID:28492532|PMID:32663239|PMID:33270854 12258553 PLAU plasminogen activator, urokinase gene DOID:0111050 Quebec platelet disorder susceptibility ISO RGD:735727 D RGD:7240710 20230517 OMIM 12258553 PLAU plasminogen activator, urokinase gene DOID:10283 prostate cancer severity ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:10024688|REF_RGD_ID:7241264 12258553 PLAU plasminogen activator, urokinase gene DOID:10487 Hirschsprung's disease ISO RGD:735727 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:28492532 12258553 PLAU plasminogen activator, urokinase gene DOID:10652 Alzheimer's disease ISO RGD:735727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to PMID:12898287|PMID:15615772|PMID:15616835|PMID:16341549|PMID:28492532 12258553 PLAU plasminogen activator, urokinase gene DOID:10652 Alzheimer's disease no_association ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:19889475|REF_RGD_ID:6483807 12258553 PLAU plasminogen activator, urokinase gene DOID:10754 otitis media treatment ISO RGD:8776154 D RGD:9068941 20200609 RGD PMID:2473673|REF_RGD_ID:11553864 12258553 PLAU plasminogen activator, urokinase gene DOID:10941 intracranial aneurysm ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:21786025|REF_RGD_ID:6483795 12258553 PLAU plasminogen activator, urokinase gene DOID:10952 nephritis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12671112 12258553 PLAU plasminogen activator, urokinase gene DOID:11054 urinary bladder cancer ISO RGD:735727 D RGD:9068941 20200609 RGD DNA:snp:3' utr:g.4065C>T (human) PMID:16825821|REF_RGD_ID:7241144 12258553 PLAU plasminogen activator, urokinase gene DOID:11054 urinary bladder cancer ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder (human) PMID:18336603|REF_RGD_ID:7241213 12258553 PLAU plasminogen activator, urokinase gene DOID:11054 urinary bladder cancer treatment ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:19010488|REF_RGD_ID:4144867 12258553 PLAU plasminogen activator, urokinase gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12671112|PMID:9002298 12258553 PLAU plasminogen activator, urokinase gene DOID:11394 adult respiratory distress syndrome ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:17994220|REF_RGD_ID:4892109 12258553 PLAU plasminogen activator, urokinase gene DOID:11446 sciatic neuropathy ISO RGD:3343 D RGD:9068941 20200609 RGD mRNA:increased expression:sciatic nerve (rat) PMID:18716863|REF_RGD_ID:6483827 12258553 PLAU plasminogen activator, urokinase gene DOID:11446 sciatic neuropathy treatment ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:21151668|REF_RGD_ID:7241585 12258553 PLAU plasminogen activator, urokinase gene DOID:1168 familial hyperlipidemia ISO RGD:733174 D RGD:9068941 20200609 RGD associated with Venous Thrombosis; protein:increased expression:wall of vein, thrombus (mouse) PMID:22119245|REF_RGD_ID:6903200 12258553 PLAU plasminogen activator, urokinase gene DOID:11832 visual epilepsy ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:22293605|REF_RGD_ID:6483790 12258553 PLAU plasminogen activator, urokinase gene DOID:14018 alcoholic liver cirrhosis ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:19615318|REF_RGD_ID:7241800 12258553 PLAU plasminogen activator, urokinase gene DOID:1461 cholesterol embolism ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16773802 12258553 PLAU plasminogen activator, urokinase gene DOID:1612 breast cancer ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:nipple, discharge (human) PMID:22296682|REF_RGD_ID:7241082 12258553 PLAU plasminogen activator, urokinase gene DOID:1612 breast cancer treatment ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:19500378|REF_RGD_ID:7241801 12258553 PLAU plasminogen activator, urokinase gene DOID:1749 squamous cell carcinoma severity ISO RGD:735727 D RGD:9068941 20200609 RGD mRNA:increased expression:oral cavity (human) PMID:12866027|REF_RGD_ID:7241134 12258553 PLAU plasminogen activator, urokinase gene DOID:1793 pancreatic cancer ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10467400 12258553 PLAU plasminogen activator, urokinase gene DOID:1824 status epilepticus ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:17040480|REF_RGD_ID:6484215 12258553 PLAU plasminogen activator, urokinase gene DOID:1824 status epilepticus ISO RGD:3343 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus (rat) PMID:19527776|REF_RGD_ID:6483810 12258553 PLAU plasminogen activator, urokinase gene DOID:1824 status epilepticus ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:20026272|REF_RGD_ID:6483805 12258553 PLAU plasminogen activator, urokinase gene DOID:1936 atherosclerosis ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:15096455|REF_RGD_ID:7241203 12258553 PLAU plasminogen activator, urokinase gene DOID:1936 atherosclerosis ISO RGD:735727 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; protein:increased expression:plasma (human) PMID:17706748|REF_RGD_ID:7241201 12258553 PLAU plasminogen activator, urokinase gene DOID:2043 hepatitis B severity ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18691743|REF_RGD_ID:6483828 12258553 PLAU plasminogen activator, urokinase gene DOID:224 transient cerebral ischemia ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:19952306|REF_RGD_ID:7241795 12258553 PLAU plasminogen activator, urokinase gene DOID:224 transient cerebral ischemia ISO RGD:3343 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:21375013|REF_RGD_ID:7241584 12258553 PLAU plasminogen activator, urokinase gene DOID:2316 brain ischemia ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10472989|PMID:10512912|PMID:17927297|PMID:9731615 12258553 PLAU plasminogen activator, urokinase gene DOID:2671 transitional cell carcinoma ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14644129 12258553 PLAU plasminogen activator, urokinase gene DOID:2671 transitional cell carcinoma severity ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:urinary tract, tumor (human) PMID:15191676|REF_RGD_ID:7241280 12258553 PLAU plasminogen activator, urokinase gene DOID:2841 asthma ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21912604 12258553 PLAU plasminogen activator, urokinase gene DOID:2841 asthma ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:18519237|REF_RGD_ID:4892037 12258553 PLAU plasminogen activator, urokinase gene DOID:2983 anuria ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8225663 12258553 PLAU plasminogen activator, urokinase gene DOID:2986 IgA glomerulonephritis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9002298 12258553 PLAU plasminogen activator, urokinase gene DOID:299 adenocarcinoma ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10467400 12258553 PLAU plasminogen activator, urokinase gene DOID:3070 high grade glioma severity ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:brain (human) PMID:7604873|REF_RGD_ID:7241260 12258553 PLAU plasminogen activator, urokinase gene DOID:3071 gliosarcoma severity ISO RGD:733174 D RGD:9068941 20200609 RGD mouse gene in rat model PMID:20606645|REF_RGD_ID:7241591 12258553 PLAU plasminogen activator, urokinase gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:17651644|REF_RGD_ID:6484146 12258553 PLAU plasminogen activator, urokinase gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:sputum, neutrophil PMID:20624254|REF_RGD_ID:6483803 12258553 PLAU plasminogen activator, urokinase gene DOID:326 ischemia ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:17653104|REF_RGD_ID:6484145 12258553 PLAU plasminogen activator, urokinase gene DOID:326 ischemia ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15557913|PMID:8662173 12258553 PLAU plasminogen activator, urokinase gene DOID:3407 carotid artery disease ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10512912 12258553 PLAU plasminogen activator, urokinase gene DOID:3525 middle cerebral artery infarction ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11677890|PMID:15181847|PMID:17702958 12258553 PLAU plasminogen activator, urokinase gene DOID:3526 cerebral infarction ISO RGD:735727 D RGD:9068941 20210312 CTD CTD Direct Evidence: therapeutic PMID:12133459|PMID:16773802 12258553 PLAU plasminogen activator, urokinase gene DOID:3576 sagittal sinus thrombosis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10668740 12258553 PLAU plasminogen activator, urokinase gene DOID:3770 pulmonary fibrosis ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:12376355|REF_RGD_ID:7241206 12258553 PLAU plasminogen activator, urokinase gene DOID:3770 pulmonary fibrosis treatment ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:23327706|REF_RGD_ID:7241544 12258553 PLAU plasminogen activator, urokinase gene DOID:3770 pulmonary fibrosis treatment ISO RGD:735727 D RGD:9068941 20200609 RGD human protein in rat model PMID:7516275|REF_RGD_ID:7241204 12258553 PLAU plasminogen activator, urokinase gene DOID:3798 pleural empyema ISO RGD:735727 D RGD:9068941 20200609 RGD Gene product used in treatment of disease PMID:20304453|REF_RGD_ID:4891955 12258553 PLAU plasminogen activator, urokinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:20937265|REF_RGD_ID:4892055 12258553 PLAU plasminogen activator, urokinase gene DOID:3969 thyroid gland papillary carcinoma severity ISO RGD:735727 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid gland (human) PMID:22702340|REF_RGD_ID:7241798 12258553 PLAU plasminogen activator, urokinase gene DOID:4450 renal cell carcinoma severity ISO RGD:735727 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (human) PMID:20544684|REF_RGD_ID:7241133 12258553 PLAU plasminogen activator, urokinase gene DOID:4483 rhinitis ISO RGD:733174 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:21339035|REF_RGD_ID:8547809 12258553 PLAU plasminogen activator, urokinase gene DOID:4724 brain edema ISO RGD:3343 D RGD:9068941 20200609 RGD associated with Burns;mRNA:increased expression:brain PMID:18718505|REF_RGD_ID:6483826 12258553 PLAU plasminogen activator, urokinase gene DOID:4724 brain edema ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11677890 12258553 PLAU plasminogen activator, urokinase gene DOID:5082 liver cirrhosis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18481824|PMID:26396155 12258553 PLAU plasminogen activator, urokinase gene DOID:5844 myocardial infarction ISO RGD:3343 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium PMID:20952728|REF_RGD_ID:6484133 12258553 PLAU plasminogen activator, urokinase gene DOID:5844 myocardial infarction ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1908371|PMID:2174952|PMID:2382605|PMID:3068399|PMID:3984876|PMID:8416330 12258553 PLAU plasminogen activator, urokinase gene DOID:5844 myocardial infarction ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:17653104|REF_RGD_ID:6484145 12258553 PLAU plasminogen activator, urokinase gene DOID:5844 myocardial infarction ISO RGD:735727 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:c.*141C>T (rs4065) (human) PMID:20518747|REF_RGD_ID:6484126 12258553 PLAU plasminogen activator, urokinase gene DOID:630 genetic disease ISO RGD:735727 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12258553 PLAU plasminogen activator, urokinase gene DOID:649 prion disease ISO RGD:733174 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:19459212|REF_RGD_ID:6483816 12258553 PLAU plasminogen activator, urokinase gene DOID:6713 cerebrovascular disease ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1265806|PMID:17308290 12258553 PLAU plasminogen activator, urokinase gene DOID:684 hepatocellular carcinoma ISO RGD:733174 D RGD:9068941 20220825 MouseDO OMIM:114550 12258553 PLAU plasminogen activator, urokinase gene DOID:783 end stage renal disease ISO RGD:3343 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:kidney (rat) PMID:15506291|REF_RGD_ID:7241279 12258553 PLAU plasminogen activator, urokinase gene DOID:783 end stage renal disease ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:19926968|REF_RGD_ID:6483806 12258553 PLAU plasminogen activator, urokinase gene DOID:783 end stage renal disease severity ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:22683425|REF_RGD_ID:7241081 12258553 PLAU plasminogen activator, urokinase gene DOID:783 end stage renal disease treatment ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:17869326|REF_RGD_ID:7241218 12258553 PLAU plasminogen activator, urokinase gene DOID:8283 peritonitis ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:18571586|REF_RGD_ID:6484139 12258553 PLAU plasminogen activator, urokinase gene DOID:8337 appendicitis ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:appendix PMID:19153874|REF_RGD_ID:6483822 12258553 PLAU plasminogen activator, urokinase gene DOID:8805 intermediate coronary syndrome ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2382605 12258553 PLAU plasminogen activator, urokinase gene DOID:9000039 Spinal Cord Injuries ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:21573723|REF_RGD_ID:6483797 12258553 PLAU plasminogen activator, urokinase gene DOID:9000184 Ventricular Fibrillation ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9083243 12258553 PLAU plasminogen activator, urokinase gene DOID:9000217 Stomach Neoplasms ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12258553 PLAU plasminogen activator, urokinase gene DOID:9000310 Lung Injury ISO RGD:3343 D RGD:9068941 20200609 RGD associated with Hyperoxia PMID:19099788|REF_RGD_ID:4143526 12258553 PLAU plasminogen activator, urokinase gene DOID:9000363 Hematuria ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8225663 12258553 PLAU plasminogen activator, urokinase gene DOID:9000469 Viral Myocarditis susceptibility ISO RGD:733174 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (mouse) PMID:19246678|REF_RGD_ID:7241803 12258553 PLAU plasminogen activator, urokinase gene DOID:9000483 Angina Pectoris ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1730212 12258553 PLAU plasminogen activator, urokinase gene DOID:9000528 Coronary Disease ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1730212|PMID:9181759 12258553 PLAU plasminogen activator, urokinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16475674 12258553 PLAU plasminogen activator, urokinase gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:3343 D RGD:9068941 20200609 RGD Cavernous Nerve Injury; mRNA:increased expression:pelvic ganglion (rat) PMID:22300381|REF_RGD_ID:7241556 12258553 PLAU plasminogen activator, urokinase gene DOID:9001513 Asthenozoospermia ISO RGD:3343 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:testes, epididymis (rat) PMID:18998460|REF_RGD_ID:7241809 12258553 PLAU plasminogen activator, urokinase gene DOID:9001513 Asthenozoospermia ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18998460 12258553 PLAU plasminogen activator, urokinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12258553 PLAU plasminogen activator, urokinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:16958060|REF_RGD_ID:2317516 12258553 PLAU plasminogen activator, urokinase gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:23018346|REF_RGD_ID:7241553 12258553 PLAU plasminogen activator, urokinase gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased secretion:T lymphocyte (human) PMID:16387096|REF_RGD_ID:7241259 12258553 PLAU plasminogen activator, urokinase gene DOID:9002165 Diabetic Nephropathies ISO RGD:3343 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (rat) PMID:15322501|REF_RGD_ID:1580123 12258553 PLAU plasminogen activator, urokinase gene DOID:9002265 Kidney Neoplasms ISO RGD:735727 D RGD:9068941 20200609 RGD protein:decreased expression:kidney (human) PMID:18336603|REF_RGD_ID:7241213 12258553 PLAU plasminogen activator, urokinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11454671|PMID:16430655|PMID:17192053 12258553 PLAU plasminogen activator, urokinase gene DOID:9002457 Experimental Arthritis ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:20973954|REF_RGD_ID:6483801 12258553 PLAU plasminogen activator, urokinase gene DOID:9002676 Cerebral Hemorrhage ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1265806|PMID:15181847|PMID:17702958|PMID:8025938|PMID:9731615 12258553 PLAU plasminogen activator, urokinase gene DOID:9002928 Colonic Neoplasms ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:colon, mucosa (human) PMID:3884145|REF_RGD_ID:7241262 12258553 PLAU plasminogen activator, urokinase gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:735727 D RGD:9068941 20200609 RGD human tumor cell line in mouse model PMID:19214512|REF_RGD_ID:7241805 12258553 PLAU plasminogen activator, urokinase gene DOID:9003023 Heart Rupture, Post-Infarction ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9403446 12258553 PLAU plasminogen activator, urokinase gene DOID:9003104 Intracranial Hemorrhages ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:21779364|REF_RGD_ID:6484131 12258553 PLAU plasminogen activator, urokinase gene DOID:9003104 Intracranial Hemorrhages ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10392865|PMID:10472989|PMID:10512912|PMID:17308290 12258553 PLAU plasminogen activator, urokinase gene DOID:9003121 Thromboembolism ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3718210 12258553 PLAU plasminogen activator, urokinase gene DOID:9003230 Graft Occlusion, Vascular ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10392865|PMID:11041470|PMID:8025938|PMID:8416330 12258553 PLAU plasminogen activator, urokinase gene DOID:9003369 Strongylida Infections ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:18022622|REF_RGD_ID:6484141 12258553 PLAU plasminogen activator, urokinase gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:19587273|REF_RGD_ID:2316117 12258553 PLAU plasminogen activator, urokinase gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:3343 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:hippocampus (rat) PMID:18467699|REF_RGD_ID:6483831 12258553 PLAU plasminogen activator, urokinase gene DOID:9003871 Venous Thrombosis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15557913|PMID:3161212|PMID:3488869|PMID:6359570 12258553 PLAU plasminogen activator, urokinase gene DOID:9003936 Cardiomegaly treatment ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:22160250|REF_RGD_ID:7241558 12258553 PLAU plasminogen activator, urokinase gene DOID:9004009 Reperfusion Injury ISO RGD:3343 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (rat) PMID:19663807|REF_RGD_ID:6483808 12258553 PLAU plasminogen activator, urokinase gene DOID:9004009 Reperfusion Injury ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:18586014|REF_RGD_ID:6483830 12258553 PLAU plasminogen activator, urokinase gene DOID:9004009 Reperfusion Injury ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15181847 12258553 PLAU plasminogen activator, urokinase gene DOID:9004017 Chronic Hepatitis C ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:19628656|REF_RGD_ID:6483809 12258553 PLAU plasminogen activator, urokinase gene DOID:9004283 Transplant Rejection ISO RGD:735727 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (human) PMID:14531820|REF_RGD_ID:7241140 12258553 PLAU plasminogen activator, urokinase gene DOID:9004389 Bone Neoplasms ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16475674 12258553 PLAU plasminogen activator, urokinase gene DOID:9004484 Sepsis disease_progression ISO RGD:735727 D RGD:9068941 20200609 RGD Pneumonia associated sepsis PMID:21219633|REF_RGD_ID:4891938 12258553 PLAU plasminogen activator, urokinase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14644129|PMID:26284488 12258553 PLAU plasminogen activator, urokinase gene DOID:9004610 Acute Lung Injury ISO RGD:3343 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:21473829|REF_RGD_ID:5147760 12258553 PLAU plasminogen activator, urokinase gene DOID:9004610 Acute Lung Injury treatment ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:23324284|REF_RGD_ID:7241552 12258553 PLAU plasminogen activator, urokinase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:15631996|REF_RGD_ID:7241205 12258553 PLAU plasminogen activator, urokinase gene DOID:9004816 Jaw Cysts severity ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:cyst, liquid (human) PMID:20646237|REF_RGD_ID:6484123 12258553 PLAU plasminogen activator, urokinase gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16430655 12258553 PLAU plasminogen activator, urokinase gene DOID:9005172 Lung Neoplasms severity ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:tumor, cytoplasm (human) PMID:2054790|REF_RGD_ID:7241261 12258553 PLAU plasminogen activator, urokinase gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:18052026|REF_RGD_ID:6484140 12258553 PLAU plasminogen activator, urokinase gene DOID:9005372 Inflammation ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:20466854|REF_RGD_ID:6484127 12258553 PLAU plasminogen activator, urokinase gene DOID:9005372 Inflammation ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:20646237|REF_RGD_ID:6484123 12258553 PLAU plasminogen activator, urokinase gene DOID:9005520 Genitopatellar Syndrome ISO RGD:735727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 12258553 PLAU plasminogen activator, urokinase gene DOID:9005741 Intracranial Embolism and Thrombosis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9403446 12258553 PLAU plasminogen activator, urokinase gene DOID:9006024 Hypotension ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10392865 12258553 PLAU plasminogen activator, urokinase gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15557913|PMID:1713745|PMID:9181759|PMID:9731615 12258553 PLAU plasminogen activator, urokinase gene DOID:9007096 Stroke ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12742636 12258553 PLAU plasminogen activator, urokinase gene DOID:9007356 Eczema ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:19416247|REF_RGD_ID:6483821 12258553 PLAU plasminogen activator, urokinase gene DOID:9007364 Mouth Neoplasms ISO RGD:735727 D RGD:9068941 20200609 RGD DNA:snp:3' utr:g.4065C>T (human) PMID:15356878|REF_RGD_ID:7241146 12258553 PLAU plasminogen activator, urokinase gene DOID:9007480 Hyperoxia ISO RGD:3343 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:lung (rat) PMID:19099788|REF_RGD_ID:4143526 12258553 PLAU plasminogen activator, urokinase gene DOID:9008091 Optic Nerve Injuries ISO RGD:3343 D RGD:9068941 20200609 RGD mRNA:increased expression:optic nerve (rat) PMID:20798533|REF_RGD_ID:6483802 12258553 PLAU plasminogen activator, urokinase gene DOID:9008217 Hemorrhage ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15502123|PMID:15557913|PMID:8225663|PMID:9266785 12258553 PLAU plasminogen activator, urokinase gene DOID:9452 fatty liver disease ISO RGD:733174 D RGD:9068941 20220825 MouseDO OMIM:228100 12258553 PLAU plasminogen activator, urokinase gene DOID:9471 meningitis ISO RGD:735727 D RGD:9068941 20200609 RGD associated with Angiostrongyliasis PMID:20584616|REF_RGD_ID:6484124 12258553 PLAU plasminogen activator, urokinase gene DOID:9477 pulmonary embolism ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1098216|PMID:11041470|PMID:4430106|PMID:4884574|PMID:9038699|PMID:9266785 12258553 PLAU plasminogen activator, urokinase gene DOID:988 mitral valve prolapse ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:15262029|REF_RGD_ID:1580896 12258553 Plau plasminogen activator, urokinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3343 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:20035854|REF_RGD_ID:6484134 12258567 SRP14 signal recognition particle 14 gene DOID:2717 Bloom syndrome ISO RGD:1318313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12258567 SRP14 signal recognition particle 14 gene DOID:630 genetic disease ISO RGD:1318313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12258567 SRP14 signal recognition particle 14 gene DOID:9256 colorectal cancer ISO RGD:1318313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12258574 CD3E CD3 epsilon subunit of T-cell receptor complex gene DOID:0060017 CD3epsilon deficiency ISO RGD:1319442 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12258574 CD3E CD3 epsilon subunit of T-cell receptor complex gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1319442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12258574 CD3E CD3 epsilon subunit of T-cell receptor complex gene DOID:0080690 RASopathy ISO RGD:1319442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12258574 CD3E CD3 epsilon subunit of T-cell receptor complex gene DOID:0081330 glycogen storage disease Ib ISO RGD:1319442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12258574 CD3E CD3 epsilon subunit of T-cell receptor complex gene DOID:0110651 long QT syndrome 10 ISO RGD:1319442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12258574 CD3E CD3 epsilon subunit of T-cell receptor complex gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1319442 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12258574 CD3E CD3 epsilon subunit of T-cell receptor complex gene DOID:0111971 immunodeficiency 18 ISO RGD:1319442 D RGD:7240710 20180130 OMIM 12258574 CD3E CD3 epsilon subunit of T-cell receptor complex gene DOID:0111971 immunodeficiency 18 ISO RGD:1319442 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 | ClinVar Annotator: match by term: Immunodeficiency 18, scid variant PMID:1370449|PMID:14602880|PMID:15546002|PMID:16199547|PMID:1635567|PMID:1676369|PMID:17277165|PMID:17576681|PMID:24033266|PMID:24216686|PMID:24910257|PMID:25373860|PMID:25741868|PMID:26822028|PMID:28492532|PMID:8490660|PMID:9536098|PMID:9843989 12258574 CD3E CD3 epsilon subunit of T-cell receptor complex gene DOID:0111972 immunodeficiency 19 ISO RGD:1319442 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12258574 CD3E CD3 epsilon subunit of T-cell receptor complex gene DOID:0111973 immunodeficiency 17 ISO RGD:1319442 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12258574 CD3E CD3 epsilon subunit of T-cell receptor complex gene DOID:1059 intellectual disability ISO RGD:1319442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12258574 CD3E CD3 epsilon subunit of T-cell receptor complex gene DOID:2945 severe acute respiratory syndrome ISO RGD:1319442 D RGD:9068941 20200609 RGD protein:increased expression:Tcell, testis (human) PMID:16237152|REF_RGD_ID:27372876 12258574 CD3E CD3 epsilon subunit of T-cell receptor complex gene DOID:612 primary immunodeficiency disease ISO RGD:1319442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8490660 12258574 CD3E CD3 epsilon subunit of T-cell receptor complex gene DOID:627 severe combined immunodeficiency ISO RGD:1319442 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:25741868|PMID:28492532|PMID:33628209 12258574 CD3E CD3 epsilon subunit of T-cell receptor complex gene DOID:630 genetic disease ISO RGD:1319442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12258574 CD3E CD3 epsilon subunit of T-cell receptor complex gene DOID:7148 rheumatoid arthritis ISO RGD:1319442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 12258574 CD3E CD3 epsilon subunit of T-cell receptor complex gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1319442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12258574 CD3E CD3 epsilon subunit of T-cell receptor complex gene DOID:9005372 Inflammation ISO RGD:1319442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22325453 12258574 CD3E CD3 epsilon subunit of T-cell receptor complex gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1319443 D RGD:9068941 20200609 RGD PMID:16628253|REF_RGD_ID:2314179 12258574 CD3E CD3 epsilon subunit of T-cell receptor complex gene DOID:9007661 Dwarfism ISO RGD:1319442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12258574 CD3E CD3 epsilon subunit of T-cell receptor complex gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12258586 DDAH2 dimethylarginine dimethylaminohydrolase 2 gene DOID:0050553 JMP syndrome ISO RGD:1346413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12258586 DDAH2 dimethylarginine dimethylaminohydrolase 2 gene DOID:10591 pre-eclampsia ISO RGD:1346413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22285683 12258586 DDAH2 dimethylarginine dimethylaminohydrolase 2 gene DOID:3393 coronary artery disease ISO RGD:1346413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17267746 12258586 DDAH2 dimethylarginine dimethylaminohydrolase 2 gene DOID:630 genetic disease ISO RGD:1346413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12258603 TBC1D31 TBC1 domain family member 31 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1603593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12258603 TBC1D31 TBC1 domain family member 31 gene DOID:630 genetic disease ISO RGD:1603593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12258640 PSPC1 paraspeckle component 1 gene DOID:630 genetic disease ISO RGD:1320843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12258653 DAW1 dynein assembly factor with WD repeats 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1615857 D RGD:9068941 20220825 MouseDO 12258653 DAW1 dynein assembly factor with WD repeats 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1615857 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 12258653 DAW1 dynein assembly factor with WD repeats 1 gene DOID:630 genetic disease ISO RGD:1602062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12258653 DAW1 dynein assembly factor with WD repeats 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1602062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:0050700 cardiomyopathy ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10620750 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:0050855 renal fibrosis ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:23698112|REF_RGD_ID:7244171 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:0050861 colorectal adenocarcinoma treatment ISO RGD:732502 D RGD:9068941 20200609 RGD PMID:25405740|REF_RGD_ID:13210782 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:0060001 withdrawal disorder ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17549049 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732503 D RGD:9068941 20220825 MouseDO 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:732502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:0080599 Coronavirus infectious disease ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20484496 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23516525 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:0112161 Noonan syndrome 13 ISO RGD:732502 D RGD:7240710 20201111 OMIM 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:0112161 Noonan syndrome 13 ISO RGD:732502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome 13 PMID:25741868|PMID:28492532|PMID:32721402 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:1059 intellectual disability ISO RGD:732502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:32721402 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:732502 D RGD:9068941 20200609 RGD mRNA:increased expression: CA2 field of hippocampus, pyramidal neuron PMID:24334724|REF_RGD_ID:13800868 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:732503 D RGD:9068941 20200609 RGD PMID:28079060|REF_RGD_ID:13800563 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:10808 gastric ulcer ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:25518106|REF_RGD_ID:13800896 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:11198 DiGeorge syndrome ISO RGD:732502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:12098 trigeminal neuralgia ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:12577 urethral obstruction ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:23698112|REF_RGD_ID:7244171 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:732503 D RGD:9068941 20220825 MouseDO OMIM:192430 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:1612 breast cancer ISO RGD:732502 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:breast PMID:15928662|REF_RGD_ID:2314939 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:1682 congenital heart disease ISO RGD:732502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of | ClinVar Annotator: match by term: Isolated Nonsyndromic Congenital Heart Disease PMID:25741868|PMID:32721402 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:1682 congenital heart disease ISO RGD:732502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:28492532|PMID:32721402 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:1781 thyroid gland cancer disease_progression ISO RGD:732502 D RGD:9068941 20200609 RGD mRNA, protein:increased expression PMID:28992617|REF_RGD_ID:13792721 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:2316 brain ischemia ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17901229 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:2316 brain ischemia ISO RGD:732503 D RGD:9068941 20200609 RGD PMID:15669185|REF_RGD_ID:1582281 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:234 colon adenocarcinoma ISO RGD:732502 D RGD:9068941 20200609 RGD PMID:24691442|REF_RGD_ID:13210775 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:732502 D RGD:9068941 20200609 RGD PMID:28492138|REF_RGD_ID:13504818 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:732503 D RGD:9068941 20200609 RGD PMID:22139534|REF_RGD_ID:13504820 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:2671 transitional cell carcinoma ISO RGD:732502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:2870 endometrial adenocarcinoma ISO RGD:732502 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:endometrium (human) PMID:14760076|REF_RGD_ID:13703137 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:2870 endometrial adenocarcinoma treatment ISO RGD:732502 D RGD:9068941 20200609 RGD human tumor in a mouse model PMID:23402905|REF_RGD_ID:13703125 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:2871 endometrial carcinoma ISO RGD:732502 D RGD:9068941 20200609 RGD protein:increased expression:endometrium (human) PMID:29081408|REF_RGD_ID:13702082 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:2871 endometrial carcinoma severity ISO RGD:732502 D RGD:9068941 20200609 RGD protein:increased phosphorylation:endometrium (human) PMID:22459351|REF_RGD_ID:13441552 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:2921 glomerulonephritis ISO RGD:732503 D RGD:9068941 20200609 RGD PMID:20203158|REF_RGD_ID:7243972 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20484496 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:3213 demyelinating disease ISO RGD:732503 D RGD:9068941 20200609 RGD PMID:27596241|REF_RGD_ID:13800879 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:27152455|REF_RGD_ID:13800881 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:732502 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (human) PMID:27919956|REF_RGD_ID:13451128 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:4247 coronary restenosis ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:15583728|REF_RGD_ID:1582284 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:732503 D RGD:9068941 20220825 MouseDO OMIM:261800 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:732502 D RGD:9068941 20200609 RGD DNA:missense mutation: :multiple PMID:22517515|REF_RGD_ID:13504815 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:5199 ureteral obstruction treatment ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:28063381|REF_RGD_ID:13800569 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:732502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:26619011 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:557 kidney disease ISO RGD:732502 D RGD:9068941 20200609 RGD PMID:15213271|REF_RGD_ID:7243971 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:5844 myocardial infarction ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:15653762|REF_RGD_ID:1582282 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:630 genetic disease ISO RGD:732502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:6432 pulmonary hypertension treatment ISO RGD:732502 D RGD:9068941 20200609 RGD PMID:25907942|REF_RGD_ID:13800893 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:6812 childhood pilocytic astrocytoma ISO RGD:732502 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:21466243|REF_RGD_ID:13702864 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:26619011 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:8541 Sezary's disease ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:8567 Hodgkin's lymphoma ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7545087 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9000040 Hypertrophy ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12237323 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9000099 Experimental Colitis treatment ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:27028006|REF_RGD_ID:13800882 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17003101 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22247605 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22580338 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:732503 D RGD:9068941 20200609 RGD associated with prostate adenocarcinoma PMID:22139534|REF_RGD_ID:13504820 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9001390 Testis Reperfusion Injury treatment ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:15944243|REF_RGD_ID:13800876 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:27396351|REF_RGD_ID:13800880 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:70500 D RGD:9068941 20200609 RGD protein: increased expression: lung and liver PMID:22392145|REF_RGD_ID:7244173 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24894820 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:732502 D RGD:9068941 20200609 RGD PMID:19923143|REF_RGD_ID:7243957 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9002211 Hyperalgesia ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12941468|PMID:27093858 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21813464 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9002549 Shock treatment ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:29110153|REF_RGD_ID:13800566 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16211241 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9002906 Multiple Organ Failure ISO RGD:70500 D RGD:9068941 20200609 RGD protein: increased expression: lung and liver PMID:22392145|REF_RGD_ID:7244173 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9002955 Nerve Degeneration ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19911010 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:732502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:26619011 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9003936 Cardiomegaly ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:15607907|REF_RGD_ID:1582283 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9004265 Endometrioid Carcinomas treatment ISO RGD:732502 D RGD:9068941 20200609 RGD PMID:24917306|REF_RGD_ID:13441559 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9004484 Sepsis ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15489642 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:732502 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34323000 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22580338 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9005100 Aberrant Crypt Foci ISO RGD:732502 D RGD:9068941 20200609 RGD PMID:23467982|REF_RGD_ID:13210776 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11884234|PMID:12376484 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:29435821|REF_RGD_ID:13800872 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16407894|PMID:20692647 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:22045654|REF_RGD_ID:7243969 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70500 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:cornea PMID:21330660|REF_RGD_ID:5131482 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342401 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9006205 Animal Disease Models ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9006880 Urinary Incontinence ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:22950999|REF_RGD_ID:7244159 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:70500 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:25907942|REF_RGD_ID:13800893 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9007402 Gliosis ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19402951 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9007456 Female Infertility ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21177758 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9007661 Dwarfism ISO RGD:732502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:32721402 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:15653762|REF_RGD_ID:1582282 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:25345742|REF_RGD_ID:13800900 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732502 D RGD:9068941 20200609 RGD PMID:10323886|REF_RGD_ID:13210794 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:70500 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:pancreas: PMID:27259299|REF_RGD_ID:13506776 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:70500 D RGD:9068941 20200609 RGD protein:hypophosphorylation:pancreatic islet: PMID:21911753|REF_RGD_ID:13506785 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732503 D RGD:9068941 20200609 RGD protein:increased expression:dorsal horn: PMID:28757391|REF_RGD_ID:13506777 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:19164460|REF_RGD_ID:13506786 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:732503 D RGD:9068941 20200609 RGD PMID:26860984|REF_RGD_ID:13506775 12258672 MAPK1 mitogen-activated protein kinase 1 gene DOID:9970 obesity ISO RGD:732502 D RGD:9068941 20200609 RGD protein:increased phosphorylation:endometrium (human) PMID:20074784|REF_RGD_ID:13782055 12258685 AP1G1 adaptor related protein complex 1 subunit gamma 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1346195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12258685 AP1G1 adaptor related protein complex 1 subunit gamma 1 gene DOID:630 genetic disease ISO RGD:1346195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:34102099 12258685 AP1G1 adaptor related protein complex 1 subunit gamma 1 gene DOID:9000636 USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT ISO RGD:1346195 D RGD:7240710 20211215 OMIM 12258685 AP1G1 adaptor related protein complex 1 subunit gamma 1 gene DOID:9000636 USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT ISO RGD:1346195 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Usmani-Riazuddin syndrome, autosomal dominant PMID:25741868|PMID:34102099 12258685 AP1G1 adaptor related protein complex 1 subunit gamma 1 gene DOID:9002076 USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE ISO RGD:1346195 D RGD:7240710 20211215 OMIM 12258685 AP1G1 adaptor related protein complex 1 subunit gamma 1 gene DOID:9002076 USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE ISO RGD:1346195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usmani-Riazuddin syndrome, autosomal recessive PMID:34102099 12258685 AP1G1 adaptor related protein complex 1 subunit gamma 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12258716 CEP95 centrosomal protein 95 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1601939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 12258716 CEP95 centrosomal protein 95 gene DOID:630 genetic disease ISO RGD:1601939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12258740 TRHDE thyrotropin releasing hormone degrading enzyme gene DOID:2843 long QT syndrome ISO RGD:730936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12258740 TRHDE thyrotropin releasing hormone degrading enzyme gene DOID:630 genetic disease ISO RGD:730936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12258763 TNRC6B trinucleotide repeat containing adaptor 6B gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1350349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12258763 TNRC6B trinucleotide repeat containing adaptor 6B gene DOID:0060041 autism spectrum disorder ISO RGD:1350349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930 12258763 TNRC6B trinucleotide repeat containing adaptor 6B gene DOID:0070052 autosomal dominant intellectual developmental disorder 22 ISO RGD:1350349 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 22 PMID:25741868 12258763 TNRC6B trinucleotide repeat containing adaptor 6B gene DOID:11612 polycystic ovary syndrome ISO RGD:1350349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12258763 TNRC6B trinucleotide repeat containing adaptor 6B gene DOID:13223 uterine fibroid severity ISO RGD:1350349 D RGD:9068941 20200609 RGD DNA:SNP: :rs12484776(human) PMID:23892540|REF_RGD_ID:14394614 12258763 TNRC6B trinucleotide repeat containing adaptor 6B gene DOID:13560 subserous uterine fibroid severity ISO RGD:1350349 D RGD:9068941 20200609 RGD DNA:SNP: :rs12484776(human) PMID:23892540|REF_RGD_ID:14394614 12258763 TNRC6B trinucleotide repeat containing adaptor 6B gene DOID:630 genetic disease ISO RGD:1350349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12258763 TNRC6B trinucleotide repeat containing adaptor 6B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350349 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32152250 12258763 TNRC6B trinucleotide repeat containing adaptor 6B gene DOID:9004585 GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES ISO RGD:1350349 D RGD:7240710 20210519 OMIM 12258763 TNRC6B trinucleotide repeat containing adaptor 6B gene DOID:9004585 GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES ISO RGD:1350349 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay with speech and behavioral abnormalities PMID:25741868|PMID:29463886|PMID:32152250|PMID:33004838 12258763 TNRC6B trinucleotide repeat containing adaptor 6B gene DOID:9008086 Developmental Disabilities ISO RGD:1350349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12258763 TNRC6B trinucleotide repeat containing adaptor 6B gene DOID:9009097 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies ISO RGD:1350349 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PMID:25741868 12258813 SEC14L1 SEC14 like lipid binding 1 gene DOID:630 genetic disease ISO RGD:1320418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12258813 SEC14L1 SEC14 like lipid binding 1 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:1320418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 12258835 PCNX3 pecanex 3 gene DOID:1059 intellectual disability ISO RGD:1602160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12258835 PCNX3 pecanex 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12258835 PCNX3 pecanex 3 gene DOID:2746 glycogen storage disease V ISO RGD:1602160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12258835 PCNX3 pecanex 3 gene DOID:3070 high grade glioma ISO RGD:1602160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12258835 PCNX3 pecanex 3 gene DOID:630 genetic disease ISO RGD:1602160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12258835 PCNX3 pecanex 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1602160 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12258835 PCNX3 pecanex 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1602160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 12258835 PCNX3 pecanex 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:1602160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 12258884 IL4I1 interleukin 4 induced 1 gene DOID:630 genetic disease ISO RGD:1312498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12258884 IL4I1 interleukin 4 induced 1 gene DOID:9008334 Striatonigral Degeneration, Infantile ISO RGD:1312498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile bilateral striatal necrosis | ClinVar Annotator: match by term: Striatal degeneration familial PMID:16786527|PMID:25741868|PMID:28492532 12258901 MAP3K10 mitogen-activated protein kinase kinase kinase 10 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1318115 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12258901 MAP3K10 mitogen-activated protein kinase kinase kinase 10 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1318115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12258901 MAP3K10 mitogen-activated protein kinase kinase kinase 10 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1318115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12258901 MAP3K10 mitogen-activated protein kinase kinase kinase 10 gene DOID:2340 craniosynostosis ISO RGD:1318115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12258901 MAP3K10 mitogen-activated protein kinase kinase kinase 10 gene DOID:630 genetic disease ISO RGD:1318115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12258901 MAP3K10 mitogen-activated protein kinase kinase kinase 10 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1318115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12258901 MAP3K10 mitogen-activated protein kinase kinase kinase 10 gene DOID:9269 maple syrup urine disease ISO RGD:1318115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12258901 MAP3K10 mitogen-activated protein kinase kinase kinase 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1318115 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12258914 SGCG sarcoglycan gamma gene DOID:0050946 Charlevoix-Saguenay spastic ataxia ISO RGD:1347979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12258914 SGCG sarcoglycan gamma gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1347979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:16199547|PMID:18285821|PMID:18414213|PMID:19770540|PMID:21896784|PMID:22095924|PMID:24033266|PMID:25605665|PMID:25741868|PMID:26467025|PMID:27708273|PMID:28492532|PMID:31517061|PMID:32875335|PMID:9673983 12258914 SGCG sarcoglycan gamma gene DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C ISO RGD:1347979 D RGD:7240710 20180130 OMIM 12258914 SGCG sarcoglycan gamma gene DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C ISO RGD:1347979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C PMID:10447257|PMID:10714584|PMID:10874299|PMID:10942431|PMID:12040521|PMID:12566530|PMID:12746421|PMID:1303286|PMID:14981741|PMID:15322984|PMID:15479193|PMID:16199547|PMID:16832103|PMID:17576681|PMID:18285821|PMID:18398442|PMID:18414213|PMID:18996010|PMID:19031088|PMID:19167890|PMID:19208398|PMID:19763152|PMID:19770540|PMID:20307669|PMID:20345928|PMID:20623375|PMID:22095924|PMID:22240777|PMID:22406018|PMID:23929688|PMID:24033266|PMID:24180463|PMID:24534832|PMID:24552312|PMID:25605665|PMID:25640679|PMID:25741868|PMID:25802879|PMID:26467025|PMID:27708273|PMID:27759885|PMID:28492532|PMID:28687063|PMID:29970176|PMID:30107846|PMID:30564623|PMID:30838351|PMID:31268554|PMID:31517061|PMID:31785789|PMID:32214227|PMID:32875335|PMID:7481775|PMID:8923014|PMID:8968757|PMID:9536098|PMID:9658457|PMID:9673983|PMID:9781048 12258914 SGCG sarcoglycan gamma gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ISO RGD:1347979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sarcoglycanopathy PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12258914 SGCG sarcoglycan gamma gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1552804 D RGD:9068941 20220825 MouseDO 12258914 SGCG sarcoglycan gamma gene DOID:12930 dilated cardiomyopathy ISO RGD:1347979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 12258914 SGCG sarcoglycan gamma gene DOID:1826 epilepsy ISO RGD:1347979 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12258914 SGCG sarcoglycan gamma gene DOID:5419 schizophrenia ISO RGD:1347979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12258914 SGCG sarcoglycan gamma gene DOID:607 paraplegia ISO RGD:1347979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:18285821|PMID:18398442|PMID:19031088|PMID:19208398|PMID:19892370|PMID:21745802|PMID:24180463|PMID:28492532 12258914 SGCG sarcoglycan gamma gene DOID:630 genetic disease ISO RGD:1347979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12258914 SGCG sarcoglycan gamma gene DOID:8398 osteoarthritis ISO RGD:1347979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 12258914 SGCG sarcoglycan gamma gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1347979 D RGD:9068941 20200609 RGD DNA:SNP: : rs9552911(human) PMID:28123479|REF_RGD_ID:13605620 12258931 TRIM23 tripartite motif containing 23 gene DOID:630 genetic disease ISO RGD:1606340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12258931 TRIM23 tripartite motif containing 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12258949 MFSD6 major facilitator superfamily domain containing 6 gene DOID:0111944 immunodeficiency 31B ISO RGD:1603217 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 12258949 MFSD6 major facilitator superfamily domain containing 6 gene DOID:630 genetic disease ISO RGD:1603217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12258949 MFSD6 major facilitator superfamily domain containing 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12258978 TBC1D14 TBC1 domain family member 14 gene DOID:630 genetic disease ISO RGD:1320638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259005 GCNT4 glucosaminyl (N-acetyl) transferase 4 gene DOID:3323 Sandhoff disease ISO RGD:1602489 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 12259005 GCNT4 glucosaminyl (N-acetyl) transferase 4 gene DOID:630 genetic disease ISO RGD:1602489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259005 GCNT4 glucosaminyl (N-acetyl) transferase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12259022 SLC35F3 solute carrier family 35 member F3 gene DOID:1540 parathyroid carcinoma ISO RGD:1347980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12259022 SLC35F3 solute carrier family 35 member F3 gene DOID:630 genetic disease ISO RGD:1347980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259022 SLC35F3 solute carrier family 35 member F3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12259040 CD2BP2 CD2 cytoplasmic tail binding protein 2 gene DOID:630 genetic disease ISO RGD:1323355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259053 PKN2 protein kinase N2 gene DOID:630 genetic disease ISO RGD:1352598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259079 CIB2 calcium and integrin binding family member 2 gene DOID:0050439 Usher syndrome ISO RGD:1318655 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:24033266|PMID:25741868|PMID:26173970|PMID:26214305|PMID:26226137|PMID:26426422|PMID:26445815|PMID:26992781|PMID:28492532|PMID:28663585|PMID:29112224|PMID:30055715|PMID:30311386|PMID:34837038 12259079 CIB2 calcium and integrin binding family member 2 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1318655 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:23023331|PMID:25741868|PMID:30303587 12259079 CIB2 calcium and integrin binding family member 2 gene DOID:0110505 autosomal recessive nonsyndromic deafness 48 ISO RGD:1318655 D RGD:7240710 20180130 OMIM 12259079 CIB2 calcium and integrin binding family member 2 gene DOID:0110505 autosomal recessive nonsyndromic deafness 48 ISO RGD:1318655 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 48 PMID:23023331|PMID:24033266|PMID:25741868|PMID:26173970|PMID:26214305|PMID:26226137|PMID:26416264|PMID:26426422|PMID:26445815|PMID:28492532|PMID:28663585|PMID:29112224|PMID:30303587|PMID:30311386|PMID:34837038 12259079 CIB2 calcium and integrin binding family member 2 gene DOID:0110826 Usher syndrome type 1 ISO RGD:1318655 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:18505454|PMID:20301442|PMID:23023331 12259079 CIB2 calcium and integrin binding family member 2 gene DOID:0110836 Usher syndrome type 1J ISO RGD:1318655 D RGD:7240710 20180130 OMIM 12259079 CIB2 calcium and integrin binding family member 2 gene DOID:0110836 Usher syndrome type 1J ISO RGD:1318655 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1J PMID:18505454|PMID:20301442|PMID:23023331|PMID:24033266|PMID:25741868|PMID:26173970|PMID:26226137|PMID:26445815|PMID:28492532|PMID:29112224|PMID:30303587 12259079 CIB2 calcium and integrin binding family member 2 gene DOID:2717 Bloom syndrome ISO RGD:1318655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12259079 CIB2 calcium and integrin binding family member 2 gene DOID:630 genetic disease ISO RGD:1318655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12259079 CIB2 calcium and integrin binding family member 2 gene DOID:9004538 Hearing Loss ISO RGD:1318655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:26173970|PMID:28492532|PMID:28663585|PMID:29112224|PMID:30311386 12259079 CIB2 calcium and integrin binding family member 2 gene DOID:9256 colorectal cancer ISO RGD:1318655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12259080 DMD dystrophin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:25741868|PMID:28492532 12259080 DMD dystrophin gene DOID:0050451 Brugada syndrome ISO RGD:736976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:25741868|PMID:28492532 12259080 DMD dystrophin gene DOID:0050700 cardiomyopathy ISO RGD:736976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10320864|PMID:10533061|PMID:11241855|PMID:11524473|PMID:11710958|PMID:12354438|PMID:12359139|PMID:12467752|PMID:14659407|PMID:14695533|PMID:15643612|PMID:15655674|PMID:16049303|PMID:16199547|PMID:16566881|PMID:16770791|PMID:16834926|PMID:17041906|PMID:17145200|PMID:17259292|PMID:17576681|PMID:17726484|PMID:17826093|PMID:18583217|PMID:18663755|PMID:19158079|PMID:19409785|PMID:19760747|PMID:19783145|PMID:19937601|PMID:19959795|PMID:20098710|PMID:20696926|PMID:21515508|PMID:21969337|PMID:22678781|PMID:23251671|PMID:23299917|PMID:23453023|PMID:23536893|PMID:23757202|PMID:23871722|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24690944|PMID:25007885|PMID:25163546|PMID:25231023|PMID:25333069|PMID:25474345|PMID:25636106|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26066469|PMID:26260725|PMID:26284620|PMID:26392559|PMID:26467025|PMID:26743743|PMID:27263301|PMID:27593222|PMID:27896284|PMID:27898983|PMID:28181471|PMID:28181689|PMID:28318817|PMID:28492532|PMID:28701297|PMID:28798025|PMID:28859693|PMID:29511324|PMID:29517769|PMID:29604111|PMID:29792937|PMID:29847600|PMID:29961767|PMID:29970176|PMID:30086531|PMID:30342905|PMID:30833962|PMID:31081998|PMID:31216405|PMID:31333075|PMID:31412794|PMID:31443951|PMID:31568572|PMID:31708335|PMID:32419263|PMID:32746448|PMID:33101180|PMID:33644936|PMID:7599634|PMID:7599638|PMID:7611292|PMID:7668256|PMID:7849724|PMID:7881286|PMID:7981690|PMID:8281150|PMID:8301652|PMID:8789442|PMID:9067763|PMID:9170407|PMID:9536098 12259080 DMD dystrophin gene DOID:0050700 cardiomyopathy ISO RGD:736976 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy PMID:10320864|PMID:10533061|PMID:11241855|PMID:11524473|PMID:11710958|PMID:12354438|PMID:12359139|PMID:12467752|PMID:14659407|PMID:14695533|PMID:15643612|PMID:15655674|PMID:16049303|PMID:16199547|PMID:16566881|PMID:16770791|PMID:16834926|PMID:17041906|PMID:17145200|PMID:17259292|PMID:17576681|PMID:17726484|PMID:17826093|PMID:17854090|PMID:18583217|PMID:18663755|PMID:19158079|PMID:19409785|PMID:19760747|PMID:19783145|PMID:19937601|PMID:19959795|PMID:20098710|PMID:20696926|PMID:21515508|PMID:21969337|PMID:22223181|PMID:22678781|PMID:23251671|PMID:23299917|PMID:23453023|PMID:23536893|PMID:23757202|PMID:23871722|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24690944|PMID:25007885|PMID:25163546|PMID:25227141|PMID:25231023|PMID:25333069|PMID:25474345|PMID:25636106|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26066469|PMID:26260725|PMID:26284620|PMID:26392559|PMID:26467025|PMID:26743743|PMID:27263301|PMID:27593222|PMID:27896284|PMID:27898983|PMID:27930565|PMID:28181471|PMID:28181689|PMID:28318817|PMID:28492532|PMID:28701297|PMID:28798025|PMID:28859693|PMID:29511324|PMID:29517769|PMID:29604111|PMID:29792937|PMID:29847600|PMID:29961767|PMID:29970176|PMID:30086531|PMID:30342905|PMID:30833962|PMID:31081998|PMID:31216405|PMID:31333075|PMID:31404137|PMID:31412794|PMID:31443951|PMID:31568572|PMID:31708335|PMID:32194622|PMID:32419263|PMID:32746448|PMID:33101180|PMID:33644936|PMID:7599634|PMID:7599638|PMID:7611292|PMID:7668256|PMID:7849724|PMID:7881286|PMID:7981690|PMID:8281150|PMID:8301652|PMID:8789442|PMID:9067763|PMID:9170407|PMID:9536098 12259080 DMD dystrophin gene DOID:0060260 ptosis ISO RGD:736976 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ptosis PMID:16770791|PMID:17041906|PMID:23536893|PMID:25007885|PMID:25741868|PMID:26046366|PMID:28492532 12259080 DMD dystrophin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12259080 DMD dystrophin gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:736976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 12259080 DMD dystrophin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:28569743|PMID:31333075|PMID:31568572 12259080 DMD dystrophin gene DOID:0081164 dilated cardiomyopathy 3B ISO RGD:736976 D RGD:7240710 20220831 OMIM 12259080 DMD dystrophin gene DOID:0081164 dilated cardiomyopathy 3B ISO RGD:736976 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 3B PMID:10094565|PMID:10909857|PMID:11257468|PMID:11524473|PMID:11710958|PMID:12354438|PMID:12359139|PMID:12467752|PMID:12632325|PMID:14695533|PMID:15351422|PMID:1549596|PMID:15643612|PMID:15655674|PMID:16049303|PMID:16077730|PMID:16199547|PMID:1644931|PMID:16770791|PMID:17041906|PMID:17253928|PMID:17259292|PMID:17576681|PMID:17826093|PMID:17854090|PMID:18583217|PMID:18652600|PMID:18653336|PMID:18663755|PMID:19074751|PMID:19158079|PMID:19206170|PMID:19367636|PMID:19409785|PMID:19602481|PMID:19760747|PMID:19783145|PMID:19793655|PMID:19937601|PMID:19959795|PMID:20485447|PMID:20696926|PMID:21104870|PMID:21396098|PMID:21399986|PMID:21515508|PMID:21520333|PMID:21851881|PMID:21969337|PMID:22223181|PMID:22678781|PMID:23251671|PMID:23299917|PMID:23299919|PMID:23352160|PMID:23453023|PMID:23536893|PMID:23757202|PMID:23871722|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24690944|PMID:25007885|PMID:25163546|PMID:25231023|PMID:25333069|PMID:25447171|PMID:25474345|PMID:25525159|PMID:25636106|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26066469|PMID:26260725|PMID:26284620|PMID:26365249|PMID:26467025|PMID:26735901|PMID:26743743|PMID:2691353|PMID:26968818|PMID:26990548|PMID:27122458|PMID:27135274|PMID:27593222|PMID:27708273|PMID:27750387|PMID:27896284|PMID:27930565|PMID:28116794|PMID:28181471|PMID:28318817|PMID:28492532|PMID:28701297|PMID:28859693|PMID:29511324|PMID:29517769|PMID:29604111|PMID:29874176|PMID:29961767|PMID:30086531|PMID:30275481|PMID:30342905|PMID:30415094|PMID:30564623|PMID:30833962|PMID:31216405|PMID:31333075|PMID:31404137|PMID:31412794|PMID:31443951|PMID:31568572|PMID:31648988|PMID:31708335|PMID:31983221|PMID:32013268|PMID:32194622|PMID:32419263|PMID:32559196|PMID:33144682|PMID:33644936|PMID:34106991|PMID:35135626|PMID:36409343|PMID:7599638|PMID:7825571|PMID:7881286|PMID:8123157|PMID:8281150|PMID:8301652|PMID:8361506|PMID:8589698|PMID:8789442|PMID:8840119|PMID:9170407|PMID:9536098|PMID:9544849|PMID:9683584 12259080 DMD dystrophin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24033266|PMID:25741868|PMID:28492532|PMID:28569743|PMID:31333075|PMID:31568572 12259080 DMD dystrophin gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:736976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868|PMID:28492532|PMID:34103343 12259080 DMD dystrophin gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:736976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:25741868|PMID:28492532|PMID:34103343 12259080 DMD dystrophin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:11710958|PMID:19760747|PMID:24033266|PMID:25007885|PMID:25741868|PMID:26467025|PMID:26743743|PMID:28492532|PMID:7599634|PMID:7849724 12259080 DMD dystrophin gene DOID:0110461 X-linked dilated cardiomyopathy ISO RGD:736976 D RGD:7240710 20180130 OMIM 12259080 DMD dystrophin gene DOID:0110461 X-linked dilated cardiomyopathy ISO RGD:736976 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, X-LINKED PMID:11257468|PMID:11524473|PMID:11710958|PMID:12354438|PMID:12359139|PMID:12467752|PMID:12632325|PMID:14695533|PMID:15643612|PMID:15655674|PMID:16049303|PMID:16199547|PMID:16770791|PMID:17041906|PMID:17253928|PMID:17259292|PMID:17576681|PMID:17826093|PMID:17854090|PMID:18583217|PMID:18652600|PMID:18653336|PMID:18663755|PMID:19074751|PMID:19158079|PMID:19206170|PMID:19367636|PMID:19409785|PMID:19760747|PMID:19783145|PMID:19793655|PMID:19937601|PMID:19959795|PMID:20696926|PMID:21104870|PMID:21396098|PMID:21399986|PMID:21515508|PMID:21520333|PMID:21969337|PMID:22223181|PMID:22678781|PMID:23251671|PMID:23299917|PMID:23352160|PMID:23536893|PMID:23757202|PMID:23871722|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24690944|PMID:25007885|PMID:25163546|PMID:25231023|PMID:25333069|PMID:25447171|PMID:25474345|PMID:25636106|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26066469|PMID:26260725|PMID:26284620|PMID:26365249|PMID:26467025|PMID:26735901|PMID:26743743|PMID:2691353|PMID:26990548|PMID:27135274|PMID:27593222|PMID:27708273|PMID:27896284|PMID:27930565|PMID:28181471|PMID:28318817|PMID:28492532|PMID:28701297|PMID:28859693|PMID:29511324|PMID:29517769|PMID:29604111|PMID:29874176|PMID:29961767|PMID:30086531|PMID:30275481|PMID:30342905|PMID:30415094|PMID:30564623|PMID:30833962|PMID:31216405|PMID:31333075|PMID:31404137|PMID:31412794|PMID:31443951|PMID:31568572|PMID:31648988|PMID:31708335|PMID:31983221|PMID:32013268|PMID:32194622|PMID:32419263|PMID:33644936|PMID:34106991|PMID:35135626|PMID:36409343|PMID:7599638|PMID:7881286|PMID:8789442|PMID:8840119|PMID:9170407|PMID:9536098|PMID:9544849 12259080 DMD dystrophin gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:25741868|PMID:28492532 12259080 DMD dystrophin gene DOID:1059 intellectual disability ISO RGD:736976 D RGD:9068941 20200609 RGD DNA:deletion:cds:c.9711_9713del (p.L3238del)(human) PMID:23900271|REF_RGD_ID:12879885 12259080 DMD dystrophin gene DOID:11612 polycystic ovary syndrome ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12259080 DMD dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:7240710 20180130 OMIM 12259080 DMD dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy PMID:10094565|PMID:10196701|PMID:10320864|PMID:10392746|PMID:10464635|PMID:10480348|PMID:10533061|PMID:10541573|PMID:10612827|PMID:10832829|PMID:10841222|PMID:10909857|PMID:11039581|PMID:11185740|PMID:11257468|PMID:11381192|PMID:11388892|PMID:11409318|PMID:11524473|PMID:11710958|PMID:12111668|PMID:12233050|PMID:12324874|PMID:12354438|PMID:12359139|PMID:12398835|PMID:12467752|PMID:12632325|PMID:12673664|PMID:12674656|PMID:12754415|PMID:12754707|PMID:12794683|PMID:12920092|PMID:1301174|PMID:1301934|PMID:1307253|PMID:1363782|PMID:13679720|PMID:1383546|PMID:14641995|PMID:14659407|PMID:14695533|PMID:1496988|PMID:14973546|PMID:14977063|PMID:15038390|PMID:1513469|PMID:15253946|PMID:15319032|PMID:15351422|PMID:1549596|PMID:15528988|PMID:15637982|PMID:15643612|PMID:15655674|PMID:15684864|PMID:15723292|PMID:15841391|PMID:15952989|PMID:15976104|PMID:15979033|PMID:1601417|PMID:16030524|PMID:16049303|PMID:16077730|PMID:16199547|PMID:16331671|PMID:16439068|PMID:16566881|PMID:16770791|PMID:16834926|PMID:16917894|PMID:17024373|PMID:17041906|PMID:17124406|PMID:17145200|PMID:17253928|PMID:17259292|PMID:17435279|PMID:17561468|PMID:17576681|PMID:17726484|PMID:17826093|PMID:17854090|PMID:17880784|PMID:17952667|PMID:18054699|PMID:18055393|PMID:18261911|PMID:18348289|PMID:18353051|PMID:18403565|PMID:18445268|PMID:18583217|PMID:1864612|PMID:18646563|PMID:18652600|PMID:18663755|PMID:18683213|PMID:1868831|PMID:18752307|PMID:18853462|PMID:18974567|PMID:19001018|PMID:19040728|PMID:19073314|PMID:19074751|PMID:19084397|PMID:19158079|PMID:19206170|PMID:19230662|PMID:19309270|PMID:19367636|PMID:19409785|PMID:19449031|PMID:19461958|PMID:19530190|PMID:19602481|PMID:19730022|PMID:19760747|PMID:19763152|PMID:19783145|PMID:19793655|PMID:19835634|PMID:19837995|PMID:19907931|PMID:19937601|PMID:19959795|PMID:20031633|PMID:20036901|PMID:20098710|PMID:20153965|PMID:20307669|PMID:20381484|PMID:2040695|PMID:20485447|PMID:20630757|PMID:2063877|PMID:20683981|PMID:20696926|PMID:2071150|PMID:20847377|PMID:20944443|PMID:21104870|PMID:21150048|PMID:21180173|PMID:21228398|PMID:2136098|PMID:21396098|PMID:21399986|PMID:21515508|PMID:21520333|PMID:21525508|PMID:21550932|PMID:21815800|PMID:21851881|PMID:21896784|PMID:21969337|PMID:21972111|PMID:22090376|PMID:22092019|PMID:22182525|PMID:22223181|PMID:22234188|PMID:22234189|PMID:22369279|PMID:22379338|PMID:22406018|PMID:22510846|PMID:2261642|PMID:22678781|PMID:22776072|PMID:22894145|PMID:22910583|PMID:22980762|PMID:2316519|PMID:23251671|PMID:23276443|PMID:23299917|PMID:23299919|PMID:23349452|PMID:23352160|PMID:23438214|PMID:23440719|PMID:23453023|PMID:23536893|PMID:2354438|PMID:23588064|PMID:23667215|PMID:23695957|PMID:23756440|PMID:23757202|PMID:23818053|PMID:2383276|PMID:23871722|PMID:23914114|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24099565|PMID:24217213|PMID:24265581|PMID:24292997|PMID:24300647|PMID:24349052|PMID:24504883|PMID:24690944|PMID:24770780|PMID:24835530|PMID:24871807|PMID:24892813|PMID:24928015|PMID:25007885|PMID:25056178|PMID:25076844|PMID:25108525|PMID:25163546|PMID:25227141|PMID:25231023|PMID:25244321|PMID:25326637|PMID:25333069|PMID:25353622|PMID:25434822|PMID:25447171|PMID:25474345|PMID:25482253|PMID:25525159|PMID:25612904|PMID:25636106|PMID:25637381|PMID:25640679|PMID:2573997|PMID:25741868|PMID:25937795|PMID:25972034|PMID:26046366|PMID:26066469|PMID:26081009|PMID:26110187|PMID:26140716|PMID:26260725|PMID:26272908|PMID:26284620|PMID:26350204|PMID:26365249|PMID:26392559|PMID:26455815|PMID:26467025|PMID:26594346|PMID:26676145|PMID:26718981|PMID:26735901|PMID:26740235|PMID:26743743|PMID:26745801|PMID:26836830|PMID:26911353|PMID:2691353|PMID:26934379|PMID:26951757|PMID:26968818|PMID:26990548|PMID:27009627|PMID:27122458|PMID:27135274|PMID:27178005|PMID:27206868|PMID:27263301|PMID:27350676|PMID:27363342|PMID:27515321|PMID:27582364|PMID:27593222|PMID:27708273|PMID:27750387|PMID:27854212|PMID:27854218|PMID:27896284|PMID:27898983|PMID:27930565|PMID:28100912|PMID:28116794|PMID:28181471|PMID:28181689|PMID:28247318 12259080 DMD dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy PMID:28318817|PMID:28332368|PMID:28416588|PMID:28492532|PMID:28503591|PMID:28569743|PMID:28610567|PMID:28701297|PMID:28750076|PMID:28798025|PMID:28859693|PMID:28878402|PMID:29196072|PMID:29246534|PMID:29261181|PMID:29304097|PMID:29511324|PMID:29517769|PMID:29581631|PMID:29604111|PMID:29610182|PMID:29641567|PMID:29792937|PMID:29847600|PMID:29874176|PMID:29961767|PMID:29970176|PMID:29973226|PMID:30086531|PMID:30275481|PMID:30342905|PMID:30415094|PMID:30564623|PMID:30833962|PMID:30944907|PMID:31081998|PMID:31127727|PMID:31139960|PMID:31197268|PMID:31216405|PMID:31333075|PMID:31404137|PMID:31412794|PMID:31568572|PMID:31648988|PMID:31671740|PMID:31690835|PMID:31705731|PMID:31708335|PMID:31727011|PMID:31737537|PMID:31919629|PMID:31983221|PMID:32013268|PMID:32047267|PMID:32194622|PMID:32358784|PMID:32403337|PMID:32419263|PMID:32488064|PMID:32528171|PMID:32559196|PMID:32669210|PMID:32746448|PMID:32813700|PMID:32860008|PMID:32906206|PMID:32962870|PMID:33029525|PMID:33101180|PMID:33106653|PMID:33238405|PMID:33420945|PMID:33644936|PMID:33829027|PMID:33843695|PMID:3393617|PMID:34008892|PMID:34297739|PMID:34404389|PMID:34629887|PMID:34906502|PMID:35165973|PMID:7581396|PMID:7599634|PMID:7599638|PMID:7611292|PMID:7649554|PMID:7668256|PMID:7747792|PMID:7825571|PMID:7825572|PMID:7849724|PMID:7853367|PMID:7881286|PMID:7951253|PMID:7981590|PMID:7981690|PMID:8034300|PMID:8149204|PMID:8160755|PMID:8199594|PMID:8281150|PMID:8301652|PMID:8317478|PMID:8353493|PMID:8361506|PMID:8364587|PMID:8401539|PMID:8401582|PMID:8413368|PMID:8423832|PMID:8429320|PMID:8499922|PMID:8533818|PMID:8543940|PMID:8628480|PMID:8789442|PMID:8840119|PMID:9007319|PMID:9028449|PMID:9040743|PMID:9067763|PMID:9143930|PMID:9170407|PMID:9195228|PMID:9225508|PMID:9298822|PMID:9441825|PMID:9470882|PMID:9536098|PMID:9544849|PMID:9619643|PMID:9628192|PMID:9800909 12259080 DMD dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy PMID:10094565|PMID:10196701|PMID:10320864|PMID:10392746|PMID:10464635|PMID:10465346|PMID:10480348|PMID:10533061|PMID:10541573|PMID:10612827|PMID:10722962|PMID:10832829|PMID:10841222|PMID:10909857|PMID:11039581|PMID:11185740|PMID:11241855|PMID:11257468|PMID:11381192|PMID:11388892|PMID:11409318|PMID:11524473|PMID:11710958|PMID:12111668|PMID:12233050|PMID:12324874|PMID:12354438|PMID:12359139|PMID:12398835|PMID:12467752|PMID:12632325|PMID:12673664|PMID:12674656|PMID:12754415|PMID:12754707|PMID:12794683|PMID:12920092|PMID:1301174|PMID:1301934|PMID:1307253|PMID:1363782|PMID:13679720|PMID:1383546|PMID:14514278|PMID:14641995|PMID:14652441|PMID:14659407|PMID:14695533|PMID:14961551|PMID:14962982|PMID:1496988|PMID:14973546|PMID:14977063|PMID:15038390|PMID:1513469|PMID:15253946|PMID:15319032|PMID:15351422|PMID:1549596|PMID:15528988|PMID:15637982|PMID:15643612|PMID:15655674|PMID:15684864|PMID:15723292|PMID:15841391|PMID:15845029|PMID:15952989|PMID:15976104|PMID:15979033|PMID:1601417|PMID:16030524|PMID:16049303|PMID:16077730|PMID:16199547|PMID:16331671|PMID:16439068|PMID:16566881|PMID:16770791|PMID:16834926|PMID:16883524|PMID:16917894|PMID:16936400|PMID:16950195|PMID:17024373|PMID:17041906|PMID:17124406|PMID:17145200|PMID:17253928|PMID:17259292|PMID:17380674|PMID:17435279|PMID:17561468|PMID:17576681|PMID:17726484|PMID:17826093|PMID:1785409|PMID:17854090|PMID:17880784|PMID:17952667|PMID:18054699|PMID:18055393|PMID:18059005|PMID:18261911|PMID:18348289|PMID:18353051|PMID:18393226|PMID:18403565|PMID:18445268|PMID:18583217|PMID:1864612|PMID:18646563|PMID:18652600|PMID:18653336|PMID:18663755|PMID:18683213|PMID:1868831|PMID:18752307|PMID:18853462|PMID:1889805|PMID:18974567|PMID:19001018|PMID:19040728|PMID:19065519|PMID:19073314|PMID:19074751|PMID:19084397|PMID:19158079|PMID:19206170|PMID:19230662|PMID:19309270|PMID:19367636|PMID:19409785|PMID:19449031|PMID:19449433|PMID:19461958|PMID:19530190|PMID:19602481|PMID:19730022|PMID:19760747|PMID:19763152|PMID:19783145|PMID:19793655|PMID:19823873|PMID:19835634|PMID:19837995|PMID:19907931|PMID:19937601|PMID:19959795|PMID:20031633|PMID:20036901|PMID:20098710|PMID:20153965|PMID:20307669|PMID:20381484|PMID:2040695|PMID:20457930|PMID:20485447|PMID:20630757|PMID:2063877|PMID:20683981|PMID:20696926|PMID:2071150|PMID:20847377|PMID:20944443|PMID:21104870|PMID:21150048|PMID:21180173|PMID:21228398|PMID:21273767|PMID:2136098|PMID:21396098|PMID:21399986|PMID:21402533|PMID:21515508|PMID:21520333|PMID:21525508|PMID:21550932|PMID:21815800|PMID:21851881|PMID:21896784|PMID:21969337|PMID:21972111|PMID:22090376|PMID:22092019|PMID:22102647|PMID:22144684|PMID:22161109|PMID:22182525|PMID:22223181|PMID:22234188|PMID:22234189|PMID:22369279|PMID:22379338|PMID:22406018|PMID:22510846|PMID:2261642|PMID:22678781|PMID:22776072|PMID:22894145|PMID:22910583|PMID:22980762|PMID:23092449|PMID:2316519|PMID:23224783|PMID:23251671|PMID:23276443|PMID:23299917|PMID:23299919|PMID:23349452|PMID:23352160|PMID:23438214|PMID:23440719|PMID:23453023|PMID:23536893|PMID:2354438|PMID:23588064|PMID:23667215|PMID:23695957|PMID:23756440|PMID:23757202|PMID:23818053|PMID:23829870|PMID:2383276|PMID:23871722|PMID:23914114|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24099565|PMID:24217213|PMID:24236769|PMID:24265581|PMID:24274981|PMID:24292997|PMID:24300647|PMID:24302611|PMID:24349052|PMID:24504883|PMID:24690944|PMID:24770780|PMID:24835530|PMID:24871807|PMID:24892813|PMID:24928015|PMID:25007885|PMID:25056178|PMID:25076844|PMID:25108525|PMID:25163546|PMID:25193336|PMID:25214167|PMID:25227141|PMID:25231023|PMID:25244321|PMID:25326637|PMID:25333069|PMID:25340340|PMID:25353622|PMID:25434822|PMID:25447171|PMID:25474345|PMID:25482253|PMID:25525159|PMID:25612904|PMID:25636106|PMID:25637381|PMID:25640679|PMID:2573997|PMID:25741868|PMID:25761239|PMID:25937795|PMID:25972034|PMID:26046366|PMID:26066469|PMID:26081009|PMID:26110187|PMID:26140716|PMID:26260725|PMID:26272908|PMID:26284620|PMID:26350204|PMID:26365249|PMID:26392559|PMID:26455815|PMID:26467025|PMID:26594346 12259080 DMD dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy PMID:26676145|PMID:26718981|PMID:26735901|PMID:26740235|PMID:26743743|PMID:26745801|PMID:26836830|PMID:26911353|PMID:2691353|PMID:26934379|PMID:26951757|PMID:26968818|PMID:26990548|PMID:27009627|PMID:27122458|PMID:27135274|PMID:27178005|PMID:27206868|PMID:27234031|PMID:27263301|PMID:27290639|PMID:27350676|PMID:27363342|PMID:27425820|PMID:27515321|PMID:27582364|PMID:27593222|PMID:27708273|PMID:27750387|PMID:27854212|PMID:27854218|PMID:27896284|PMID:27898983|PMID:27930565|PMID:28100912|PMID:28116794|PMID:28181471|PMID:28181689|PMID:28247318|PMID:28318817|PMID:28332368|PMID:28407826|PMID:28416588|PMID:28492532|PMID:28503591|PMID:28526893|PMID:28569743|PMID:28610567|PMID:28701297|PMID:28750076|PMID:28777860|PMID:28798025|PMID:28859693|PMID:28878402|PMID:29016797|PMID:29188604|PMID:29196072|PMID:29246534|PMID:29261181|PMID:29304097|PMID:29365344|PMID:29390271|PMID:29511324|PMID:29517769|PMID:29578119|PMID:29581631|PMID:29604111|PMID:29610182|PMID:29641567|PMID:29792937|PMID:29847600|PMID:29874176|PMID:29901616|PMID:29961767|PMID:29970176|PMID:29973226|PMID:30086531|PMID:30275481|PMID:30293248|PMID:30342905|PMID:30415094|PMID:30467404|PMID:30564623|PMID:30816495|PMID:30827497|PMID:30833962|PMID:30907348|PMID:30938079|PMID:30944907|PMID:31081998|PMID:31127727|PMID:31139960|PMID:31197268|PMID:31216405|PMID:31333075|PMID:31379145|PMID:31397097|PMID:31404137|PMID:31412794|PMID:31443951|PMID:31514951|PMID:31568572|PMID:31648988|PMID:31661024|PMID:31671740|PMID:31690835|PMID:31705731|PMID:31706698|PMID:31708335|PMID:31719299|PMID:31727011|PMID:31737537|PMID:31919629|PMID:31983221|PMID:32013268|PMID:32047267|PMID:32055135|PMID:32169422|PMID:32176650|PMID:32194622|PMID:32358784|PMID:32403337|PMID:32419263|PMID:32488064|PMID:32528171|PMID:32559196|PMID:32669210|PMID:32746448|PMID:32813700|PMID:32860008|PMID:32906206|PMID:32962870|PMID:32969603|PMID:33029525|PMID:33101180|PMID:33106653|PMID:33144682|PMID:33238405|PMID:33420945|PMID:33644936|PMID:33829027|PMID:33843695|PMID:3393617|PMID:34008892|PMID:34103343|PMID:34106991|PMID:34297739|PMID:34404389|PMID:34629887|PMID:34906502|PMID:35135626|PMID:35165973|PMID:36409343|PMID:7041906|PMID:7496177|PMID:7581396|PMID:7599634|PMID:7599638|PMID:7611292|PMID:7649554|PMID:7668256|PMID:7747792|PMID:7825571|PMID:7825572|PMID:7849724|PMID:7853367|PMID:7881286|PMID:7897627|PMID:7951251|PMID:7951253|PMID:7981590|PMID:7981690|PMID:8004097|PMID:8034300|PMID:8149204|PMID:8160755|PMID:8199594|PMID:8281150|PMID:8301652|PMID:8317478|PMID:8353493|PMID:8361506|PMID:8364587|PMID:8401539|PMID:8401582|PMID:8413368|PMID:8423832|PMID:8429320|PMID:8452597|PMID:8499922|PMID:8533818|PMID:8543940|PMID:8589698|PMID:8628480|PMID:8784808|PMID:8789442|PMID:8840114|PMID:8840119|PMID:9007319|PMID:9028449|PMID:9040743|PMID:9067763|PMID:9143930|PMID:9170407|PMID:9195228|PMID:9225508|PMID:9298822|PMID:9441825|PMID:9447607|PMID:9470882|PMID:9536098|PMID:9544849|PMID:9619643|PMID:9628192|PMID:9760747|PMID:9800909|PMID:9805122|PMID:9937601 12259080 DMD dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Duchenne and Becker muscular dystrophy | ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy PMID:10094565|PMID:10196701|PMID:10320864|PMID:10392746|PMID:10464635|PMID:10465346|PMID:10480348|PMID:10533061|PMID:10541573|PMID:10612827|PMID:10722962|PMID:10832829|PMID:10841222|PMID:10909857|PMID:11039581|PMID:11185740|PMID:11241855|PMID:11257468|PMID:11381192|PMID:11388892|PMID:11409318|PMID:11524473|PMID:11710958|PMID:12111668|PMID:12233050|PMID:12324874|PMID:12354438|PMID:12359139|PMID:12398835|PMID:12467752|PMID:12632325|PMID:12673664|PMID:12674656|PMID:12754415|PMID:12754707|PMID:12794683|PMID:12920092|PMID:1301174|PMID:1301934|PMID:1307253|PMID:1363782|PMID:13679720|PMID:1383546|PMID:14514278|PMID:14641995|PMID:14652441|PMID:14659407|PMID:14695533|PMID:14961551|PMID:14962982|PMID:1496988|PMID:14973546|PMID:14977063|PMID:15038390|PMID:1513469|PMID:15253946|PMID:15319032|PMID:15351422|PMID:1549596|PMID:15528988|PMID:15637982|PMID:15643612|PMID:15655674|PMID:15684864|PMID:15723292|PMID:15841391|PMID:15845029|PMID:15952989|PMID:15976104|PMID:15979033|PMID:1601417|PMID:16030524|PMID:16049303|PMID:16077730|PMID:16199547|PMID:16331671|PMID:16439068|PMID:16566881|PMID:16770791|PMID:16834926|PMID:16883524|PMID:16917894|PMID:16936400|PMID:16950195|PMID:17024373|PMID:17041906|PMID:17124406|PMID:17145200|PMID:17253928|PMID:17259292|PMID:17380674|PMID:17435279|PMID:17561468|PMID:17576681|PMID:17680544|PMID:17726484|PMID:17826093|PMID:1785409|PMID:17854090|PMID:17880784|PMID:17952667|PMID:18054699|PMID:18055393|PMID:18059005|PMID:18261911|PMID:18348289|PMID:18353051|PMID:18393226|PMID:18403565|PMID:18445268|PMID:18583217|PMID:1864612|PMID:18646563|PMID:18652600|PMID:18653336|PMID:18663755|PMID:18683213|PMID:1868831|PMID:18752307|PMID:18853462|PMID:1889805|PMID:18974567|PMID:19001018|PMID:19040728|PMID:19065519|PMID:19073314|PMID:19074751|PMID:19084397|PMID:19158079|PMID:19206170|PMID:19230662|PMID:19309270|PMID:19367636|PMID:19409785|PMID:19449031|PMID:19449433|PMID:19461958|PMID:19530190|PMID:19602481|PMID:19730022|PMID:19760747|PMID:19763152|PMID:19783145|PMID:19793655|PMID:19823873|PMID:19835634|PMID:19837995|PMID:19907931|PMID:19937601|PMID:19959795|PMID:20031633|PMID:20036901|PMID:20098710|PMID:20153965|PMID:20307669|PMID:20381484|PMID:2040695|PMID:20457930|PMID:20485447|PMID:20630757|PMID:2063877|PMID:20683981|PMID:20696926|PMID:2071150|PMID:20847377|PMID:20944443|PMID:21104870|PMID:21150048|PMID:21180173|PMID:21228398|PMID:21273767|PMID:2136098|PMID:21396098|PMID:21399986|PMID:21402533|PMID:21515508|PMID:21520333|PMID:21525508|PMID:21815800|PMID:21851881|PMID:21896784|PMID:21969337|PMID:21972111|PMID:22090376|PMID:22092019|PMID:22102647|PMID:22144684|PMID:22161109|PMID:22182525|PMID:22223181|PMID:22234188|PMID:22234189|PMID:22379338|PMID:22406018|PMID:22510846|PMID:2261642|PMID:22678781|PMID:22776072|PMID:22894145|PMID:22910583|PMID:22980762|PMID:23092449|PMID:2316519|PMID:23224783|PMID:23251671|PMID:23276443|PMID:23299917|PMID:23299919|PMID:23349452|PMID:23352160|PMID:23438214|PMID:23440719|PMID:23453023|PMID:23536893|PMID:2354438|PMID:23588064|PMID:23667215|PMID:23695957|PMID:23756440|PMID:23757202|PMID:23818053|PMID:23829870|PMID:2383276|PMID:23871722|PMID:23914114|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24099565|PMID:24217213|PMID:24236769|PMID:24265581|PMID:24274981|PMID:24292997|PMID:24300647|PMID:24302611|PMID:24349052|PMID:24504883|PMID:24690944|PMID:24770780|PMID:24835530|PMID:24871807|PMID:24892813|PMID:24928015|PMID:25007885|PMID:25056178|PMID:25076844|PMID:25163546|PMID:25193336|PMID:25214167|PMID:25227141|PMID:25231023|PMID:25244321|PMID:25326637|PMID:25333069|PMID:25340340|PMID:25348330|PMID:25353622|PMID:25434822|PMID:25447171|PMID:25474345|PMID:25482253|PMID:25525159|PMID:25612904|PMID:25636106|PMID:25637381|PMID:25640679|PMID:2573997|PMID:25741868|PMID:25761239|PMID:25937795|PMID:25972034|PMID:26046366|PMID:26066469|PMID:26081009|PMID:26110187|PMID:26140716|PMID:26260725|PMID:26272908|PMID:26284620|PMID:26350204|PMID:26365249|PMID:26392559|PMID:26455815|PMID:26467025|PMID:26594346|PMID:26676145 12259080 DMD dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Duchenne and Becker muscular dystrophy | ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy PMID:26718981|PMID:26735901|PMID:26740235|PMID:26743743|PMID:26745801|PMID:26836830|PMID:26911353|PMID:2691353|PMID:26934379|PMID:26951757|PMID:26968818|PMID:26990548|PMID:27009627|PMID:27122458|PMID:27135274|PMID:27178005|PMID:27206868|PMID:27234031|PMID:27263301|PMID:27290639|PMID:27350676|PMID:27363342|PMID:27425820|PMID:27515321|PMID:27582364|PMID:27593222|PMID:27708273|PMID:27750387|PMID:27854212|PMID:27854218|PMID:27896284|PMID:27898983|PMID:27930565|PMID:28100912|PMID:28116794|PMID:28181471|PMID:28181689|PMID:28247318|PMID:28318817|PMID:28332368|PMID:28407826|PMID:28416588|PMID:28492532|PMID:28503591|PMID:28526893|PMID:28569743|PMID:28610567|PMID:28701297|PMID:28750076|PMID:28777860|PMID:28798025|PMID:28859693|PMID:28878337|PMID:28878402|PMID:29016797|PMID:29188604|PMID:29196072|PMID:29246534|PMID:29261181|PMID:29304097|PMID:29365344|PMID:29390271|PMID:29511324|PMID:29517769|PMID:29578119|PMID:29581631|PMID:29604111|PMID:29610182|PMID:29641567|PMID:29792937|PMID:29847600|PMID:29874176|PMID:29901616|PMID:29961767|PMID:29970176|PMID:29973226|PMID:30086531|PMID:30275481|PMID:30293248|PMID:30342905|PMID:30415094|PMID:30467404|PMID:30564623|PMID:30816495|PMID:30827497|PMID:30833962|PMID:30907348|PMID:30938079|PMID:30944907|PMID:31081998|PMID:31127727|PMID:31139960|PMID:31197268|PMID:31216405|PMID:31302907|PMID:31333075|PMID:31379145|PMID:31397097|PMID:31404137|PMID:31412794|PMID:31443951|PMID:31514951|PMID:31568572|PMID:31648988|PMID:31661024|PMID:31671740|PMID:31690835|PMID:31705731|PMID:31706698|PMID:31708335|PMID:31719299|PMID:31727011|PMID:31737537|PMID:31919629|PMID:31983221|PMID:32013268|PMID:32047267|PMID:32055135|PMID:32169422|PMID:32176650|PMID:32194622|PMID:32358784|PMID:32403337|PMID:32419263|PMID:32488064|PMID:32528171|PMID:32559196|PMID:32669210|PMID:32746448|PMID:32813700|PMID:32860008|PMID:32906206|PMID:32962870|PMID:32969603|PMID:33029525|PMID:33101180|PMID:33106653|PMID:33144682|PMID:33238405|PMID:33250842|PMID:33420945|PMID:33644936|PMID:33829027|PMID:33843695|PMID:3393617|PMID:34008892|PMID:34103343|PMID:34106991|PMID:34268379|PMID:34297739|PMID:34404389|PMID:34629887|PMID:34906502|PMID:35135626|PMID:35165973|PMID:36409343|PMID:7041906|PMID:7496177|PMID:7581396|PMID:7599634|PMID:7599638|PMID:7611292|PMID:7649554|PMID:7668256|PMID:7747792|PMID:7825571|PMID:7825572|PMID:7849724|PMID:7853367|PMID:7881286|PMID:7897627|PMID:7951251|PMID:7951253|PMID:7981590|PMID:7981690|PMID:8004097|PMID:8034300|PMID:8149204|PMID:8160755|PMID:8199594|PMID:8281150|PMID:8301652|PMID:8317478|PMID:8353493|PMID:8361506|PMID:8364587|PMID:8401539|PMID:8401582|PMID:8413368|PMID:8423832|PMID:8429320|PMID:8452597|PMID:8499922|PMID:8533818|PMID:8543940|PMID:8589698|PMID:8628480|PMID:8784808|PMID:8789442|PMID:8817332|PMID:8840114|PMID:8840119|PMID:9007319|PMID:9028449|PMID:9040743|PMID:9067763|PMID:9143930|PMID:9170407|PMID:9195228|PMID:9225508|PMID:9298822|PMID:9441825|PMID:9447607|PMID:9470882|PMID:9536098|PMID:9544849|PMID:9619643|PMID:9628192|PMID:9760747|PMID:9800909|PMID:9805122|PMID:9937601 12259080 DMD dystrophin gene DOID:11723 Duchenne muscular dystrophy treatment ISO RGD:736976 D RGD:9068941 20200609 RGD PMID:24010700|REF_RGD_ID:12880007 12259080 DMD dystrophin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19937601|PMID:19959795|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12259080 DMD dystrophin gene DOID:12849 autistic disorder ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12259080 DMD dystrophin gene DOID:12930 dilated cardiomyopathy ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12359139|PMID:19409785|PMID:19937601|PMID:21396098|PMID:21969337|PMID:23299917|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532 12259080 DMD dystrophin gene DOID:12930 dilated cardiomyopathy ISO RGD:736976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12359139|PMID:19409785|PMID:19937601|PMID:21396098|PMID:21969337|PMID:23299917|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32559196 12259080 DMD dystrophin gene DOID:12930 dilated cardiomyopathy ISO RGD:736976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12359139|PMID:19409785|PMID:19937601|PMID:21396098|PMID:21969337|PMID:23299917|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32559196|PMID:34103343 12259080 DMD dystrophin gene DOID:12930 dilated cardiomyopathy severity ISO RGD:736976 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:myocardium PMID:20373002|REF_RGD_ID:6771365 12259080 DMD dystrophin gene DOID:13399 color blindness ISO RGD:736976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Color vision defect PMID:16199547|PMID:16770791|PMID:19937601|PMID:25007885|PMID:27234031|PMID:28492532|PMID:30827497|PMID:34106991 12259080 DMD dystrophin gene DOID:1561 cognitive disorder severity ISO RGD:736976 D RGD:9068941 20200609 RGD DNA:deletion:promoter,start site: PMID:24265581|REF_RGD_ID:12879884 12259080 DMD dystrophin gene DOID:182 calcinosis ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18340010 12259080 DMD dystrophin gene DOID:1824 status epilepticus ISO RGD:2507 D RGD:9068941 20200609 RGD protein:decreased expression:piriform cortex PMID:20886625|REF_RGD_ID:5148023 12259080 DMD dystrophin gene DOID:1824 status epilepticus ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20886625 12259080 DMD dystrophin gene DOID:1882 atrial heart septal defect ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12259080 DMD dystrophin gene DOID:1967 leiomyosarcoma ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24793134 12259080 DMD dystrophin gene DOID:2843 long QT syndrome ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:18583217|PMID:24033266|PMID:24690944|PMID:25741868|PMID:26467025|PMID:28492532 12259080 DMD dystrophin gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24793134 12259080 DMD dystrophin gene DOID:397 restrictive cardiomyopathy ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:14695533|PMID:15643612|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 12259080 DMD dystrophin gene DOID:423 myopathy ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 12259080 DMD dystrophin gene DOID:4724 brain edema ISO RGD:2507 D RGD:9068941 20200609 RGD associated with Status Epilepticus PMID:22338606|REF_RGD_ID:6771363 12259080 DMD dystrophin gene DOID:5419 schizophrenia ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12259080 DMD dystrophin gene DOID:6000 congestive heart failure ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart failure PMID:25741868|PMID:28492532 12259080 DMD dystrophin gene DOID:630 genetic disease ISO RGD:736976 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19367636|PMID:21104870|PMID:25637381|PMID:25741868|PMID:26365249|PMID:26467025|PMID:28492532|PMID:31648988|PMID:33644936|PMID:35135626|PMID:36409343|PMID:9536098 12259080 DMD dystrophin gene DOID:767 muscular atrophy ISO RGD:736976 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Muscular atrophy PMID:25741868 12259080 DMD dystrophin gene DOID:820 myocarditis ISO RGD:10479 D RGD:9068941 20200609 RGD associated with Duchenne muscular dystrophy PMID:15917272|REF_RGD_ID:13702901 12259080 DMD dystrophin gene DOID:83 cataract disease_progression ISO RGD:10479 D RGD:9068941 20200609 RGD PMID:25489223|REF_RGD_ID:12879865 12259080 DMD dystrophin gene DOID:8466 retinal degeneration disease_progression ISO RGD:2507 D RGD:9068941 20200609 RGD PMID:10359335|REF_RGD_ID:1300412 12259080 DMD dystrophin gene DOID:9000373 Muscle Cramp ISO RGD:736976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle cramps PMID:16770791|PMID:17253928|PMID:25007885|PMID:25741868|PMID:28492532|PMID:34106991 12259080 DMD dystrophin gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:19937601|PMID:28492532 12259080 DMD dystrophin gene DOID:9000887 Muscular Dystrophy, Animal ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22795790 12259080 DMD dystrophin gene DOID:9000965 Neoplasm Metastasis ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24793134 12259080 DMD dystrophin gene DOID:9001510 Funnel Chest ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:16770791|PMID:17041906|PMID:23536893|PMID:25007885|PMID:25741868|PMID:26046366|PMID:28492532 12259080 DMD dystrophin gene DOID:9001836 Cardiac Conduction Defect ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:25741868|PMID:28492532 12259080 DMD dystrophin gene DOID:9002833 Exertional Myalgia, Muscle Stiffness and Myoglobinuria ISO RGD:736976 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Exertional myalgia, muscle stiffness and myoglobinuria PMID:19367636|PMID:21104870|PMID:25637381|PMID:25741868|PMID:26365249|PMID:26467025|PMID:28492532|PMID:31648988|PMID:33644936|PMID:35135626|PMID:36409343 12259080 DMD dystrophin gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:736976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:25741868|PMID:28492532 12259080 DMD dystrophin gene DOID:9003139 Cardiac Fibrosis ISO RGD:2507 D RGD:9068941 20200609 RGD PMID:25310701|REF_RGD_ID:12880034 12259080 DMD dystrophin gene DOID:9003163 Heart Block ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868|PMID:28492532 12259080 DMD dystrophin gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:736976 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CYP21 deficiency PMID:24033266|PMID:25741868|PMID:28492532 12259080 DMD dystrophin gene DOID:9003936 Cardiomegaly ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23297412 12259080 DMD dystrophin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12259080 DMD dystrophin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24793134 12259080 DMD dystrophin gene DOID:9004866 Ataxia ISO RGD:736976 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:30074247 12259080 DMD dystrophin gene DOID:9005532 Muscle Weakness ISO RGD:736976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:16770791|PMID:17253928|PMID:25007885|PMID:25741868|PMID:28492532|PMID:34106991 12259080 DMD dystrophin gene DOID:9005749 Necrosis ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22795790 12259080 DMD dystrophin gene DOID:9006205 Animal Disease Models ISO RGD:736976 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:22795790|PMID:26930420|PMID:30074247 12259080 DMD dystrophin gene DOID:9006743 Spasm ISO RGD:736976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle spasm PMID:16770791|PMID:17253928|PMID:25007885|PMID:25741868|PMID:28492532|PMID:34106991 12259080 DMD dystrophin gene DOID:9007039 Ventricular Dysfunction ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21273767 12259080 DMD dystrophin gene DOID:9007090 Experimental Seizures ISO RGD:2507 D RGD:9068941 20200609 RGD PMID:9539217|REF_RGD_ID:12880363 12259080 DMD dystrophin gene DOID:9007993 Dehydration ISO RGD:2507 D RGD:9068941 20200609 RGD protein:decreased expression:neurohypophysial lobe: PMID:9858364|REF_RGD_ID:12880360 12259080 DMD dystrophin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24793134 12259080 DMD dystrophin gene DOID:9256 colorectal cancer ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 12259080 DMD dystrophin gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 12259080 DMD dystrophin gene DOID:930 orbital disease ISO RGD:736976 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Exophthalmos PMID:16770791|PMID:17041906|PMID:23536893|PMID:25007885|PMID:25741868|PMID:26046366|PMID:28492532 12259080 DMD dystrophin gene DOID:9883 Becker muscular dystrophy ISO RGD:736976 D RGD:7240710 20180228 OMIM 12259080 DMD dystrophin gene DOID:9883 Becker muscular dystrophy ISO RGD:736976 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Becker muscular dystrophy | ClinVar Annotator: match by term: Becker muscular dystrophy, atypical | ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type PMID:10094565|PMID:10320864|PMID:10464635|PMID:1047858|PMID:10533061|PMID:10832829|PMID:10909857|PMID:11039581|PMID:11053684|PMID:11241855|PMID:11257468|PMID:11524473|PMID:11710958|PMID:12233050|PMID:12354438|PMID:12359139|PMID:12467752|PMID:12522557|PMID:12632325|PMID:12754707|PMID:13679720|PMID:14659407|PMID:14695533|PMID:14973546|PMID:15253946|PMID:15351422|PMID:1549596|PMID:15643612|PMID:15655674|PMID:15723292|PMID:1577476|PMID:15952989|PMID:16049303|PMID:16199547|PMID:1632439|PMID:16566881|PMID:16770791|PMID:16834926|PMID:17041906|PMID:17145200|PMID:17253928|PMID:17259292|PMID:17435279|PMID:1757094|PMID:17576681|PMID:17726484|PMID:17826093|PMID:17854090|PMID:17880784|PMID:18583217|PMID:18652600|PMID:18653336|PMID:18663755|PMID:18846679|PMID:19074751|PMID:19158079|PMID:19206170|PMID:19367636|PMID:19409785|PMID:19449031|PMID:19530190|PMID:19602481|PMID:19760747|PMID:19783145|PMID:19793655|PMID:19823873|PMID:19937601|PMID:19959795|PMID:1996328|PMID:20098710|PMID:20485447|PMID:20696926|PMID:21104870|PMID:21396098|PMID:21399986|PMID:21515508|PMID:21520333|PMID:21525508|PMID:21681106|PMID:21851881|PMID:21969337|PMID:21972111|PMID:22223181|PMID:22678781|PMID:22776072|PMID:22894145|PMID:22910583|PMID:23251671|PMID:23299917|PMID:23299919|PMID:23453023|PMID:23536893|PMID:23588064|PMID:23756440|PMID:23757202|PMID:23871722|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24265581|PMID:24292997|PMID:24300647|PMID:24349052|PMID:24690944|PMID:25007885|PMID:25163546|PMID:25227141|PMID:25231023|PMID:25244321|PMID:25333069|PMID:25447171|PMID:25474345|PMID:25525159|PMID:25612904|PMID:25636106|PMID:25637381|PMID:25741868|PMID:25761239|PMID:25972034|PMID:26046366|PMID:26066469|PMID:26260725|PMID:26284620|PMID:26350204|PMID:26365249|PMID:26392559|PMID:26455815|PMID:26467025|PMID:26594346|PMID:26743743|PMID:2677830|PMID:26911353|PMID:26934379|PMID:26968818|PMID:27122458|PMID:27178005|PMID:27263301|PMID:27363342|PMID:27582364|PMID:27593222|PMID:27708273|PMID:27750387|PMID:27896284|PMID:27898983|PMID:27930565|PMID:28100912|PMID:28116794|PMID:28181471|PMID:28181689|PMID:28318817|PMID:28416588|PMID:28492532|PMID:28503591|PMID:28701297|PMID:28750076|PMID:28798025|PMID:28859693|PMID:28878402|PMID:29188604|PMID:29196072|PMID:29365344|PMID:29511324|PMID:29517769|PMID:29581631|PMID:29604111|PMID:29610182|PMID:29641567|PMID:29792937|PMID:29847600|PMID:29874176|PMID:29961767|PMID:29970176|PMID:29973226|PMID:30086531|PMID:30342905|PMID:30467404|PMID:30833962|PMID:31081998|PMID:31127727|PMID:31216405|PMID:31333075|PMID:31404137|PMID:31412794|PMID:31443951|PMID:31568572|PMID:31648988|PMID:31671740|PMID:31708335|PMID:31727011|PMID:31983221|PMID:32047267|PMID:32194622|PMID:32419263|PMID:32559196|PMID:32669210|PMID:32746448|PMID:32813700|PMID:32969603|PMID:33101180|PMID:33106653|PMID:33420945|PMID:33644936|PMID:33829027|PMID:3393617|PMID:34008892|PMID:35135626|PMID:36409343|PMID:7041906|PMID:7599634|PMID:7599638|PMID:7611292|PMID:7668256|PMID:7849724|PMID:7881286|PMID:7951253|PMID:7981690|PMID:8279470|PMID:8281150|PMID:8301652|PMID:8322822|PMID:8401537|PMID:8504498|PMID:8789442|PMID:8840119|PMID:9067763|PMID:9170407|PMID:9410897|PMID:9536098|PMID:9544849|PMID:9805122 12259080 DMD dystrophin gene DOID:9884 muscular dystrophy ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:10465346|PMID:11185740|PMID:1549142|PMID:16030524|PMID:16770791|PMID:18752307|PMID:19449031|PMID:20031633|PMID:20301298|PMID:2063877|PMID:23299919|PMID:24033266|PMID:24135430|PMID:25007885|PMID:25244321|PMID:25741868|PMID:28492532|PMID:9327405 12259193 AHSG alpha 2-HS glycoprotein gene DOID:0060575 3MC syndrome 1 ISO RGD:736027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 12259193 AHSG alpha 2-HS glycoprotein gene DOID:0080628 alopecia-mental retardation syndrome 1 ISO RGD:736027 D RGD:7240710 20190315 OMIM 12259193 AHSG alpha 2-HS glycoprotein gene DOID:0080628 alopecia-mental retardation syndrome 1 ISO RGD:736027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alopecia mental retardation syndrome 1 | ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 1 PMID:15592877|PMID:15806395|PMID:25741868|PMID:28054173|PMID:31288248|PMID:9003486 12259193 AHSG alpha 2-HS glycoprotein gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:736027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:24886237 12259193 AHSG alpha 2-HS glycoprotein gene DOID:11714 gestational diabetes ISO RGD:736027 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12153747|REF_RGD_ID:2313814 12259193 AHSG alpha 2-HS glycoprotein gene DOID:182 calcinosis ISO RGD:736027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16177000 12259193 AHSG alpha 2-HS glycoprotein gene DOID:3021 acute kidney failure ISO RGD:736027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12259193 AHSG alpha 2-HS glycoprotein gene DOID:3393 coronary artery disease susceptibility ISO RGD:736027 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNPs PMID:17062776|REF_RGD_ID:1625792 12259193 AHSG alpha 2-HS glycoprotein gene DOID:5844 myocardial infarction ISO RGD:736027 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19029462|REF_RGD_ID:2313810 12259193 AHSG alpha 2-HS glycoprotein gene DOID:585 nephrolithiasis ISO RGD:736027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Calcium oxalate urolithiasis PMID:24886237 12259193 AHSG alpha 2-HS glycoprotein gene DOID:630 genetic disease ISO RGD:736027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259193 AHSG alpha 2-HS glycoprotein gene DOID:9002165 Diabetic Nephropathies ISO RGD:736027 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum PMID:15698447|REF_RGD_ID:2313813 12259193 AHSG alpha 2-HS glycoprotein gene DOID:9006599 Hypertriglyceridemia ISO RGD:736027 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19228823|REF_RGD_ID:2313809 12259193 AHSG alpha 2-HS glycoprotein gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12259193 AHSG alpha 2-HS glycoprotein gene DOID:9007096 Stroke ISO RGD:736027 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19029462|REF_RGD_ID:2313810 12259193 AHSG alpha 2-HS glycoprotein gene DOID:9007692 Insulin Resistance ISO RGD:736027 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16567827|REF_RGD_ID:1625794 12259193 AHSG alpha 2-HS glycoprotein gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:10128 D RGD:9068941 20200609 RGD PMID:17011519|REF_RGD_ID:1625793 12259193 AHSG alpha 2-HS glycoprotein gene DOID:9352 type 2 diabetes mellitus ISO RGD:736027 D RGD:9068941 20200609 RGD PMID:18633113|REF_RGD_ID:2313811 12259193 AHSG alpha 2-HS glycoprotein gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:736027 D RGD:9068941 20200609 RGD DNA:polymorphism: :-469T>G (rs2077119) (human) PMID:18316360|REF_RGD_ID:2313812 12259193 AHSG alpha 2-HS glycoprotein gene DOID:9970 obesity ISO RGD:736027 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19228823|REF_RGD_ID:2313809 12259193 AHSG alpha 2-HS glycoprotein gene DOID:9970 obesity susceptibility ISO RGD:10128 D RGD:9068941 20200609 RGD PMID:17011519|REF_RGD_ID:1625793 12259204 NCL nucleolin gene DOID:0060476 Perlman syndrome ISO RGD:1342988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12259204 NCL nucleolin gene DOID:0110991 Joubert syndrome 22 ISO RGD:1342988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12259204 NCL nucleolin gene DOID:3910 lung adenocarcinoma ISO RGD:1342988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12259204 NCL nucleolin gene DOID:630 genetic disease ISO RGD:1342988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259204 NCL nucleolin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3153 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:24608397|REF_RGD_ID:9686390 12259204 NCL nucleolin gene DOID:9006205 Animal Disease Models ISO RGD:1342988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12259204 NCL nucleolin gene DOID:9007102 Myocardial Ischemia ISO RGD:1342988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12259204 NCL nucleolin gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3153 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:23594402|REF_RGD_ID:9686384 12259225 IL26 interleukin 26 gene DOID:630 genetic disease ISO RGD:1346180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259233 NT5M 5',3'-nucleotidase, mitochondrial gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1320058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 12259233 NT5M 5',3'-nucleotidase, mitochondrial gene DOID:0050777 Joubert syndrome ISO RGD:1320058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12259233 NT5M 5',3'-nucleotidase, mitochondrial gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1320058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12259233 NT5M 5',3'-nucleotidase, mitochondrial gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1320058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12259233 NT5M 5',3'-nucleotidase, mitochondrial gene DOID:12849 autistic disorder ISO RGD:1320058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12259233 NT5M 5',3'-nucleotidase, mitochondrial gene DOID:630 genetic disease ISO RGD:1320058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259249 KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:1345038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:28492532|PMID:30847666 12259249 KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1345038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 12259249 KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12259249 KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 gene DOID:12849 autistic disorder ISO RGD:1345038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12259249 KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 gene DOID:630 genetic disease ISO RGD:1345038 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12259252 SYNGR4 synaptogyrin 4 gene DOID:630 genetic disease ISO RGD:1317104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259261 C17H2orf78 chromosome 17 C2orf78 homolog gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:2298835 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12259261 C17H2orf78 chromosome 17 C2orf78 homolog gene DOID:543 dystonia ISO RGD:2298835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12259261 C17H2orf78 chromosome 17 C2orf78 homolog gene DOID:630 genetic disease ISO RGD:2298835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259261 C17H2orf78 chromosome 17 C2orf78 homolog gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:2298835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12259272 EP300 E1A binding protein p300 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1348463 D RGD:9068941 20220121 RGD mRNA:increased expression:lung (human) PMID:30119248|REF_RGD_ID:151347411 12259272 EP300 E1A binding protein p300 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 12259272 EP300 E1A binding protein p300 gene DOID:0050700 cardiomyopathy ISO RGD:1348463 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle, nucleus (human) PMID:20375365|REF_RGD_ID:7364750 12259272 EP300 E1A binding protein p300 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1348463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12259272 EP300 E1A binding protein p300 gene DOID:0050834 CHARGE syndrome ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hall-Hittner syndrome PMID:29300383 12259272 EP300 E1A binding protein p300 gene DOID:0050902 medulloblastoma ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26619011 12259272 EP300 E1A binding protein p300 gene DOID:0060319 cardiac arrest ISO RGD:1348463 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; mRNA:increased expression:blood (human) PMID:19577077|REF_RGD_ID:2312286 12259272 EP300 E1A binding protein p300 gene DOID:0080199 colorectal carcinoma ISO RGD:1348463 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Colorectal carcinoma PMID:15706485|PMID:24476420|PMID:25741868|PMID:28492532 12259272 EP300 E1A binding protein p300 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12259272 EP300 E1A binding protein p300 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1348463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12259272 EP300 E1A binding protein p300 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 12259272 EP300 E1A binding protein p300 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 12259272 EP300 E1A binding protein p300 gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:28492532 12259272 EP300 E1A binding protein p300 gene DOID:10283 prostate cancer disease_progression ISO RGD:1348463 D RGD:9068941 20200609 RGD PMID:14633682|REF_RGD_ID:2289907 12259272 EP300 E1A binding protein p300 gene DOID:1059 intellectual disability ISO RGD:1348463 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:24728327|PMID:25741868|PMID:27465822|PMID:27648933|PMID:28492532|PMID:32827181|PMID:33644862 12259272 EP300 E1A binding protein p300 gene DOID:10652 Alzheimer's disease ISO RGD:1348463 D RGD:9068941 20200609 RGD mRNA:increased expression:temporal cortex (human) PMID:23585551|REF_RGD_ID:7327146 12259272 EP300 E1A binding protein p300 gene DOID:10907 microcephaly ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12259272 EP300 E1A binding protein p300 gene DOID:11054 urinary bladder cancer ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 12259272 EP300 E1A binding protein p300 gene DOID:1107 esophageal carcinoma ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus PMID:26619011 12259272 EP300 E1A binding protein p300 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1348463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:28492532 12259272 EP300 E1A binding protein p300 gene DOID:1520 colon carcinoma ISO RGD:1348463 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma PMID:10700188 12259272 EP300 E1A binding protein p300 gene DOID:1749 squamous cell carcinoma ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 12259272 EP300 E1A binding protein p300 gene DOID:1909 melanoma ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23698071 12259272 EP300 E1A binding protein p300 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1348463 D RGD:7240710 20200122 OMIM 12259272 EP300 E1A binding protein p300 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:10700188|PMID:15706485|PMID:16199547|PMID:17299436|PMID:18414213|PMID:18792986|PMID:19353645|PMID:20014264|PMID:20301699|PMID:21679367|PMID:24033266|PMID:24352918|PMID:24476420|PMID:24728327|PMID:25326635|PMID:25712426|PMID:25741868|PMID:26486927|PMID:27159028|PMID:27465822|PMID:27648933|PMID:28166811|PMID:28492532|PMID:29133209|PMID:29300383|PMID:29706646|PMID:30076641|PMID:32860008 12259272 EP300 E1A binding protein p300 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1348463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:10700188|PMID:15706485|PMID:17299436|PMID:18414213|PMID:18792986|PMID:19353645|PMID:20014264|PMID:20301699|PMID:21679367|PMID:24033266|PMID:24352918|PMID:24381114|PMID:24476420|PMID:24728327|PMID:25326635|PMID:25712426|PMID:25741868|PMID:27159028|PMID:27465822|PMID:27648933|PMID:28166811|PMID:28492532|PMID:28523540|PMID:29133209|PMID:29300383|PMID:29460469|PMID:29706646|PMID:30143558|PMID:32827181|PMID:32860008|PMID:33043588|PMID:33644862 12259272 EP300 E1A binding protein p300 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1348463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:10700188|PMID:15706485|PMID:16199547|PMID:17299436|PMID:17576681|PMID:18414213|PMID:18792986|PMID:19353645|PMID:20014264|PMID:20301699|PMID:21679367|PMID:24033266|PMID:24352918|PMID:24381114|PMID:24476420|PMID:24728327|PMID:25326635|PMID:25712426|PMID:25741868|PMID:26486927|PMID:27159028|PMID:27465822|PMID:27648933|PMID:28492532|PMID:28523540|PMID:29133209|PMID:29300383|PMID:29460469|PMID:29706646|PMID:30076641|PMID:30143558|PMID:32827181|PMID:32860008|PMID:33043588|PMID:33644862|PMID:9536098 12259272 EP300 E1A binding protein p300 gene DOID:2671 transitional cell carcinoma ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011 12259272 EP300 E1A binding protein p300 gene DOID:2921 glomerulonephritis ISO RGD:1348463 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus, renal tubule (human) PMID:17125594|REF_RGD_ID:7327154 12259272 EP300 E1A binding protein p300 gene DOID:3459 breast carcinoma ISO RGD:1348463 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:12725419|REF_RGD_ID:2289908 12259272 EP300 E1A binding protein p300 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17965222|PMID:25151357 12259272 EP300 E1A binding protein p300 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26619011 12259272 EP300 E1A binding protein p300 gene DOID:3910 lung adenocarcinoma ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 12259272 EP300 E1A binding protein p300 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1348463 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:28551630|REF_RGD_ID:15036804 12259272 EP300 E1A binding protein p300 gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:1348463 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney, tumor (human) PMID:23029358|REF_RGD_ID:7296925 12259272 EP300 E1A binding protein p300 gene DOID:5409 lung small cell carcinoma ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941188 12259272 EP300 E1A binding protein p300 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:26619011 12259272 EP300 E1A binding protein p300 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12259272 EP300 E1A binding protein p300 gene DOID:6000 congestive heart failure ISO RGD:1348463 D RGD:9068941 20200609 RGD PMID:12724418|REF_RGD_ID:2312280 12259272 EP300 E1A binding protein p300 gene DOID:630 genetic disease ISO RGD:1348463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11331617|PMID:17299436|PMID:18792986|PMID:21679367|PMID:24352918|PMID:24728327|PMID:25741868|PMID:27465822|PMID:27648933|PMID:27964710|PMID:28492532|PMID:29133209 12259272 EP300 E1A binding protein p300 gene DOID:687 hepatoblastoma ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 12259272 EP300 E1A binding protein p300 gene DOID:9000493 Menke-Hennekam Syndrome 2 ISO RGD:1348463 D RGD:7240710 20200122 OMIM 12259272 EP300 E1A binding protein p300 gene DOID:9000493 Menke-Hennekam Syndrome 2 ISO RGD:1348463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Menke-Hennekam syndrome 2 PMID:18414213|PMID:24381114|PMID:24728327|PMID:25741868|PMID:27465822|PMID:28492532|PMID:29460469|PMID:30143558|PMID:32851286 12259272 EP300 E1A binding protein p300 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868 12259272 EP300 E1A binding protein p300 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1348463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant PMID:28492532 12259272 EP300 E1A binding protein p300 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:26619011 12259272 EP300 E1A binding protein p300 gene DOID:9003748 Thumb Deformity ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thumb deformity PMID:25741868 12259272 EP300 E1A binding protein p300 gene DOID:9004226 Hittner Hirsch Kreh Syndrome ISO RGD:1348463 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome PMID:29300383 12259272 EP300 E1A binding protein p300 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12259272 EP300 E1A binding protein p300 gene DOID:9005988 Multicystic Dysplastic Kidney ISO RGD:1348463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multicystic dysplastic kidney PMID:25741868|PMID:28492532|PMID:30143558 12259272 EP300 E1A binding protein p300 gene DOID:9007653 Multiple Abnormalities ISO RGD:1348463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies PMID:18792986|PMID:21679367|PMID:24352918|PMID:25741868|PMID:27465822|PMID:28492532|PMID:29133209 12259272 EP300 E1A binding protein p300 gene DOID:9007661 Dwarfism ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12259272 EP300 E1A binding protein p300 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 12259272 EP300 E1A binding protein p300 gene DOID:9008091 Optic Nerve Injuries ISO RGD:1348463 D RGD:9068941 20200609 RGD human gene in rat model PMID:21705428|REF_RGD_ID:7349392 12259272 EP300 E1A binding protein p300 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348463 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 12259272 EP300 E1A binding protein p300 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26921506 12259272 EP300 E1A binding protein p300 gene DOID:9008939 Breast Neoplasms ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26229107 12259272 EP300 E1A binding protein p300 gene DOID:9256 colorectal cancer ISO RGD:1348463 D RGD:7240710 20200226 OMIM 12259272 EP300 E1A binding protein p300 gene DOID:9256 colorectal cancer ISO RGD:1348463 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:15706485|PMID:18414213|PMID:24476420|PMID:24728327|PMID:25741868|PMID:26486927|PMID:27648933|PMID:28166811|PMID:28492532|PMID:29133209 12259272 EP300 E1A binding protein p300 gene DOID:9256 colorectal cancer ISO RGD:1348463 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:15706485|PMID:18414213|PMID:24476420|PMID:24728327|PMID:25741868|PMID:27648933|PMID:28492532|PMID:29133209 12259272 EP300 E1A binding protein p300 gene DOID:9256 colorectal cancer ISO RGD:1348463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:15706485|PMID:18414213|PMID:24476420|PMID:24728327|PMID:25741868|PMID:27648933|PMID:28492532|PMID:29133209|PMID:30143558 12259272 EP300 E1A binding protein p300 gene DOID:9256 colorectal cancer ISO RGD:1348463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:15706485|PMID:18414213|PMID:24476420|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30143558 12259272 EP300 E1A binding protein p300 gene DOID:9970 obesity ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26441656 12259307 ARL4C ADP ribosylation factor like GTPase 4C gene DOID:0080600 COVID-19 ISO RGD:1345856 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12259307 ARL4C ADP ribosylation factor like GTPase 4C gene DOID:630 genetic disease ISO RGD:1345856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259313 TSSK3 testis specific serine kinase 3 gene DOID:630 genetic disease ISO RGD:1347200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731035 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:0110338 osteogenesis imperfecta type 17 ISO RGD:731035 D RGD:7240710 20180130 OMIM 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:0110338 osteogenesis imperfecta type 17 ISO RGD:731035 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 17 PMID:25741868|PMID:26027498|PMID:28492532 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:0111535 progressive osseous heteroplasia ISO RGD:731035 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:10976 membranous glomerulonephritis ISO RGD:3742 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:8943481|REF_RGD_ID:2300069 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:11054 urinary bladder cancer ISO RGD:731035 D RGD:9068941 20200609 RGD PMID:17149610|REF_RGD_ID:2300021 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731035 D RGD:9068941 20200609 RGD PMID:11696817|REF_RGD_ID:2300024 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:11713 diabetic angiopathy ISO RGD:3742 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:mesentery, blood vessel PMID:10625572|REF_RGD_ID:2300063 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:12347 osteogenesis imperfecta ISO RGD:731035 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:1588 thrombocytopenia ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:182 calcinosis ISO RGD:731035 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:2152 ovary epithelial cancer ISO RGD:731035 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:stromal cell PMID:10502421|REF_RGD_ID:2300027 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:2237 hepatitis ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23408952 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:2871 endometrial carcinoma ISO RGD:731035 D RGD:9068941 20200609 RGD DNA, mRNA, protein:hypermethylation, altered expression PMID:17487382|REF_RGD_ID:2300020 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:2893 cervix carcinoma ISO RGD:731035 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:16434596|REF_RGD_ID:2300022 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:3742 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:8644857|REF_RGD_ID:2300070 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:3770 pulmonary fibrosis ISO RGD:11336 D RGD:9068941 20200619 RGD associated with Middle East respiratory syndrome;mRNA:increased expression:lung: PMID:31838832|REF_RGD_ID:30309204 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:3948 adrenocortical carcinoma ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22156929 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:4450 renal cell carcinoma ISO RGD:731035 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:11679940|REF_RGD_ID:2300025 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:4676 uremia ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:5082 liver cirrhosis ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23408952 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:5517 stomach carcinoma ISO RGD:3742 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach mucosa PMID:12359048|REF_RGD_ID:2300058 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:557 kidney disease ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12660331 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:5844 myocardial infarction ISO RGD:3742 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:12826287|REF_RGD_ID:2300056 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:630 genetic disease ISO RGD:731035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:90 degenerative disc disease ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20714283 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:9000039 Spinal Cord Injuries ISO RGD:11336 D RGD:9068941 20200609 RGD PMID:17611274|REF_RGD_ID:2300052 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:9000998 Brain Injuries ISO RGD:3742 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, blood vessel PMID:9704602|REF_RGD_ID:2300066 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3742 D RGD:9068941 20200609 RGD PMID:18615449|REF_RGD_ID:2300030 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3742 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, fat cell PMID:8786698|REF_RGD_ID:2300071 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18615449|PMID:25380136 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:9001600 Wounds and Injuries ISO RGD:3742 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:skin, fibroblast PMID:8245406|REF_RGD_ID:2300076 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:9002165 Diabetic Nephropathies ISO RGD:3742 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression:kidney PMID:8569083|REF_RGD_ID:2300072 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:9002170 Experimental Neoplasms ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20164124 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:9002211 Hyperalgesia ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20714283 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:9002762 Ovarian Neoplasms ISO RGD:11336 D RGD:9068941 20200609 RGD PMID:17951402|REF_RGD_ID:2300019 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:9002762 Ovarian Neoplasms ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19177197 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:9002928 Colonic Neoplasms ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17397030 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:9003669 Low Back Pain ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20714283 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:9004657 Weight Gain ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:9005372 Inflammation ISO RGD:11336 D RGD:9068941 20200609 RGD associated with Hypertension PMID:17717147|REF_RGD_ID:2300051 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:9005749 Necrosis ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23408952 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:9005930 Endotoxemia ISO RGD:3742 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:10703670|REF_RGD_ID:2300026 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731035 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:9007102 Myocardial Ischemia ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:9007702 Carcinogenesis ISO RGD:731035 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26783756 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:9008443 Colorectal Neoplasms ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18458674 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:9119 acute myeloid leukemia ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:9538 multiple myeloma ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18172295 12259319 SPARC secreted protein acidic and cysteine rich gene DOID:9970 obesity ISO RGD:11336 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue PMID:11294850|REF_RGD_ID:2300062 12259338 LRRC72 leucine rich repeat containing 72 gene DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 ISO RGD:5508492 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 PMID:23288328|PMID:28492532 12259338 LRRC72 leucine rich repeat containing 72 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:5508492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12259338 LRRC72 leucine rich repeat containing 72 gene DOID:630 genetic disease ISO RGD:5508492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259355 MIR532 microRNA mir-532 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12259355 MIR532 microRNA mir-532 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1603132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12259355 MIR532 microRNA mir-532 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1603132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12259355 MIR532 microRNA mir-532 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1603132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12259355 MIR532 microRNA mir-532 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1603132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12259355 MIR532 microRNA mir-532 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1603132 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 12259355 MIR532 microRNA mir-532 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1603132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12259355 MIR532 microRNA mir-532 gene DOID:11054 urinary bladder cancer ISO RGD:1603132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30639441 12259355 MIR532 microRNA mir-532 gene DOID:12849 autistic disorder ISO RGD:1603132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12259355 MIR532 microRNA mir-532 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1603132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12259355 MIR532 microRNA mir-532 gene DOID:2671 transitional cell carcinoma ISO RGD:1603132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30639441 12259355 MIR532 microRNA mir-532 gene DOID:4989 pancreatitis ISO RGD:1603132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12259355 MIR532 microRNA mir-532 gene DOID:6000 congestive heart failure ISO RGD:1603132 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12259355 MIR532 microRNA mir-532 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1603132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 12259355 MIR532 microRNA mir-532 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1603132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 12259355 MIR532 microRNA mir-532 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1603132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30639441 12259355 MIR532 microRNA mir-532 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12259355 MIR532 microRNA mir-532 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1603132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12259355 MIR532 microRNA mir-532 gene DOID:9008579 Dent Disease 1 ISO RGD:1603132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrolithiasis 2 PMID:15052463|PMID:7874126|PMID:9328929 12259355 MIR532 microRNA mir-532 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478399 12259401 LOC102155410 cytochrome c oxidase subunit 7C, mitochondrial gene DOID:10652 Alzheimer's disease ISO RGD:1353652 D RGD:9068941 20200609 RGD PMID:28474567|REF_RGD_ID:13792588 12259401 LOC102155410 cytochrome c oxidase subunit 7C, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12259401 LOC102155410 cytochrome c oxidase subunit 7C, mitochondrial gene DOID:9970 obesity ISO RGD:1353652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12259450 LPAR1 lysophosphatidic acid receptor 1 gene DOID:2044 drug-induced hepatitis ISO RGD:731582 D RGD:9068941 20200609 RGD protein:increased expression:liver (mouse) PMID:12201952|REF_RGD_ID:10054288 12259450 LPAR1 lysophosphatidic acid receptor 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:620563 D RGD:9068941 20200609 RGD PMID:17173873|REF_RGD_ID:9850154 12259450 LPAR1 lysophosphatidic acid receptor 1 gene DOID:630 genetic disease ISO RGD:731581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259450 LPAR1 lysophosphatidic acid receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:620563 D RGD:9068941 20200609 RGD PMID:19000703|REF_RGD_ID:2317680 12259450 LPAR1 lysophosphatidic acid receptor 1 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:620563 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:17026968|REF_RGD_ID:2317696 12259450 LPAR1 lysophosphatidic acid receptor 1 gene DOID:9001916 Fetal Death ISO RGD:731581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11087877 12259450 LPAR1 lysophosphatidic acid receptor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16809448 12259450 LPAR1 lysophosphatidic acid receptor 1 gene DOID:9002331 Knee Osteoarthritis susceptibility ISO RGD:731581 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-2820G>A (rs10980705) (human) PMID:18325907|REF_RGD_ID:10054291 12259450 LPAR1 lysophosphatidic acid receptor 1 gene DOID:9004042 Olfaction Disorders ISO RGD:731581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11087877 12259450 LPAR1 lysophosphatidic acid receptor 1 gene DOID:9006257 Growth Disorders ISO RGD:731581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11087877 12259450 LPAR1 lysophosphatidic acid receptor 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 12259450 LPAR1 lysophosphatidic acid receptor 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:731581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11087877 12259450 LPAR1 lysophosphatidic acid receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:731581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 12259450 LPAR1 lysophosphatidic acid receptor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:731581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12259463 MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3 gene DOID:1682 congenital heart disease ISO RGD:732595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of 12259463 MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3 gene DOID:3070 high grade glioma ISO RGD:732595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12259463 MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3 gene DOID:3883 Lynch syndrome ISO RGD:732595 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12259463 MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3 gene DOID:630 genetic disease ISO RGD:732595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259463 MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12259463 MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3 gene DOID:9006281 Temporomandibular Joint Disorders ISO RGD:621280 D RGD:9068941 20200609 RGD protein:decreased expression:cartilage tissue PMID:23386193|REF_RGD_ID:10041017 12259518 NEURL2 neuralized E3 ubiquitin protein ligase 2 gene DOID:0080540 galactosialidosis ISO RGD:1315006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase 12259518 NEURL2 neuralized E3 ubiquitin protein ligase 2 gene DOID:2234 focal epilepsy ISO RGD:1315006 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12259518 NEURL2 neuralized E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1315006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259518 NEURL2 neuralized E3 ubiquitin protein ligase 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1315006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12259524 DNAJA2 DnaJ heat shock protein family (Hsp40) member A2 gene DOID:0111041 glycogen storage disease IXb ISO RGD:732533 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 12259524 DNAJA2 DnaJ heat shock protein family (Hsp40) member A2 gene DOID:409 liver disease ISO RGD:71001 D RGD:9068941 20210114 RGD mRNA:increased expression:liver (rat) PMID:15270078|REF_RGD_ID:4891447 12259524 DNAJA2 DnaJ heat shock protein family (Hsp40) member A2 gene DOID:630 genetic disease ISO RGD:732533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259538 NPEPPS aminopeptidase puromycin sensitive gene DOID:630 genetic disease ISO RGD:1354170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259565 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 gene DOID:0050891 adrenal cortical adenoma ISO RGD:736494 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland (human) PMID:12457455|REF_RGD_ID:4891170 12259565 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 gene DOID:0060041 autism spectrum disorder ISO RGD:736494 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12259565 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 gene DOID:0080626 corticosterone methyloxidase deficiency 1 ISO RGD:736494 D RGD:7240710 20180130 OMIM 12259565 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 gene DOID:0080626 corticosterone methyloxidase deficiency 1 ISO RGD:736494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 18 alpha hydroxylase deficiency | ClinVar Annotator: match by term: Corticosterone 18-monooxygenase deficiency | ClinVar Annotator: match by term: Corticosterone methyl oxidase type II deficiency | ClinVar Annotator: match by term: Corticosterone methyloxidase type 1 deficiency | ClinVar Annotator: match by term: STEROID 18-HYDROXYLASE DEFICIENCY | ClinVar Annotator: match by term: STEROID 18-OXIDASE DEFICIENCY PMID:10965212|PMID:11174838|PMID:11196457|PMID:11238478|PMID:11549691|PMID:12788848|PMID:1346492|PMID:14250395|PMID:15240589|PMID:1594605|PMID:16118341|PMID:16199547|PMID:16733366|PMID:17576681|PMID:18710464|PMID:2044581|PMID:20494601|PMID:20639134|PMID:21237269|PMID:22465514|PMID:22565077|PMID:22801770|PMID:22931312|PMID:23062999|PMID:24033266|PMID:25102047|PMID:25741868|PMID:25968592|PMID:26936515|PMID:26956189|PMID:28492532|PMID:29201470|PMID:30864636|PMID:33098647|PMID:7485152|PMID:7792802|PMID:8530633|PMID:8954040|PMID:9177280|PMID:9360501|PMID:9536098|PMID:9625333|PMID:9703385|PMID:9814506 12259565 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:736494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 12259565 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 gene DOID:0110429 dilated cardiomyopathy 1H treatment ISO RGD:736494 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-344C>T (human) PMID:12031704|REF_RGD_ID:1576426 12259565 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 gene DOID:10591 pre-eclampsia ISO RGD:736494 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V386A (human) PMID:15569322|REF_RGD_ID:1576428 12259565 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 gene DOID:10763 hypertension ISO RGD:736494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aldosterone to renin ratio, increased PMID:12213905|PMID:12788845|PMID:17003099 12259565 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 gene DOID:14080 glucocorticoid-remediable aldosteronism ISO RGD:736494 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism PMID:10965212|PMID:11174838|PMID:11549691|PMID:1594605|PMID:16118341|PMID:18710464|PMID:22465514|PMID:22931312|PMID:24033266|PMID:25102047|PMID:25741868|PMID:28492532|PMID:33098647|PMID:8530633|PMID:8954040|PMID:9703385|PMID:9814506 12259565 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 gene DOID:446 primary hyperaldosteronism ISO RGD:736494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11085685 12259565 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 gene DOID:446 primary hyperaldosteronism ISO RGD:736494 D RGD:9068941 20200609 RGD DNA:gene fusion:intron:Cyp11b1 (human) PMID:1731223|REF_RGD_ID:4891155 12259565 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 gene DOID:4621 holoprosencephaly ISO RGD:736494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12259565 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 gene DOID:630 genetic disease ISO RGD:736494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12259565 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:736494 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-344C>T (human) PMID:16672053|REF_RGD_ID:2307295 12259565 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25735316 12259565 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:736494 D RGD:9068941 20200609 RGD DNA:transition:5' utr:-344C>T (human) PMID:9494027|REF_RGD_ID:4891150 12259565 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 gene DOID:9004616 Left Ventricular Hypertrophy no_association ISO RGD:736494 D RGD:9068941 20200609 RGD DNA:transition:5' utr:-344C>T (human) PMID:11275936|REF_RGD_ID:4891151 12259565 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 gene DOID:9005658 Hypoaldosteronism ISO RGD:736494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11238478 12259565 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 gene DOID:9005658 Hypoaldosteronism ISO RGD:736494 D RGD:9068941 20200609 RGD CMO II deficiency, OMIM:610600; protein:missense mutations:cds:p.R181W, p.V386A (human) PMID:1594605|REF_RGD_ID:1600824 12259565 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:736494 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-344C>T (human) PMID:17261471|REF_RGD_ID:2307294 12259565 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 gene DOID:9007096 Stroke ISO RGD:736494 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:polymorphism PMID:15894891|REF_RGD_ID:2307308 12259565 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 gene DOID:9351 diabetes mellitus ISO RGD:736494 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr, cds:-344C>T, p.K173R (human) PMID:11687612|REF_RGD_ID:2307297 12259565 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736494 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-344C>T (human) PMID:18771471|REF_RGD_ID:2307288 12259578 TMOD4 tropomodulin 4 gene DOID:0080422 Dravet syndrome ISO RGD:1319001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 12259578 TMOD4 tropomodulin 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1319001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12259578 TMOD4 tropomodulin 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1319001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12259578 TMOD4 tropomodulin 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1319001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12259578 TMOD4 tropomodulin 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1319001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12259578 TMOD4 tropomodulin 4 gene DOID:5812 MHC class II deficiency ISO RGD:1319001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12259578 TMOD4 tropomodulin 4 gene DOID:630 genetic disease ISO RGD:1319001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259578 TMOD4 tropomodulin 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:1316368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lennox-Gastaut syndrome PMID:28492532 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:0050827 rheumatic heart disease ISO RGD:1307272 D RGD:9068941 20230202 RGD mRNA, protein:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1316368 D RGD:7240710 20180130 OMIM 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1316368 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome PMID:11279515|PMID:11448942|PMID:11592033|PMID:11595972|PMID:11891681|PMID:12784289|PMID:12920073|PMID:15121779|PMID:15908750|PMID:16053902|PMID:16088920|PMID:16199547|PMID:16532472|PMID:16688751|PMID:17203459|PMID:17576681|PMID:17932455|PMID:17958891|PMID:18182442|PMID:18414213|PMID:19006215|PMID:19215041|PMID:19842203|PMID:2030158|PMID:20428734|PMID:23243526|PMID:23418865|PMID:23466526|PMID:23523603|PMID:24092421|PMID:24401652|PMID:24715670|PMID:25123255|PMID:25326635|PMID:25326637|PMID:25608121|PMID:25741868|PMID:25899569|PMID:25931334|PMID:26467025|PMID:26633542|PMID:26661037|PMID:26809768|PMID:26993267|PMID:27831545|PMID:28166811|PMID:28492532|PMID:28501473|PMID:28708303|PMID:29089047|PMID:29159939|PMID:29263819|PMID:29300384|PMID:30315573|PMID:31130284|PMID:31376723|PMID:32860008|PMID:34298581|PMID:9536098|PMID:9719364 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1316368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:27799067 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1316368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:21981781|PMID:23632792 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1316368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1316368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:1059 intellectual disability ISO RGD:1316368 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:16053902|PMID:17958891|PMID:18414213|PMID:19215041|PMID:24401652|PMID:24715670|PMID:25741868|PMID:25899569|PMID:26809768|PMID:28492532 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:1324 lung cancer ISO RGD:1316368 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:1682 congenital heart disease ISO RGD:1316368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17478475 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:2786 cerebellar disease ISO RGD:1316368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29326173 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1316368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:5602 T-cell adult acute lymphocytic leukemia ISO RGD:1316369 D RGD:9068941 20220825 MouseDO 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:576 proteinuria ISO RGD:1307272 D RGD:9068941 20230128 RGD mRNA:increased expression:glomerular podocytes (rat) PMID:31784544|REF_RGD_ID:155882534 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:5844 myocardial infarction ISO RGD:1307272 D RGD:9068941 20230128 RGD protein:increased expression:heart (rat) PMID:24155330|REF_RGD_ID:155882536 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:630 genetic disease ISO RGD:1316368 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11448942|PMID:12784289|PMID:15121779|PMID:16053902|PMID:17203459|PMID:17958891|PMID:18414213|PMID:19215041|PMID:19842203|PMID:20428734|PMID:23243526|PMID:23322667|PMID:23466526|PMID:23523603|PMID:24401652|PMID:24715670|PMID:25123255|PMID:25608121|PMID:25741868|PMID:25899569|PMID:25931334|PMID:26467025|PMID:26661037|PMID:26809768|PMID:27831545|PMID:28492532|PMID:29089047|PMID:29300384|PMID:31376723|PMID:9719364 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9000918 Disease Progression ISO RGD:1316368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19839049 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9002320 Neurobehavioral Manifestations treatment ISO RGD:1307272 D RGD:9068941 20230128 RGD PMID:34334113|REF_RGD_ID:155882538 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9003292 Intracranial Subdural Hematoma ISO RGD:1307272 D RGD:9068941 20230128 RGD protein:increased expression:brain (rat) PMID:34334113|REF_RGD_ID:155882538 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9003292 Intracranial Subdural Hematoma treatment ISO RGD:1307272 D RGD:9068941 20230128 RGD PMID:34334113|REF_RGD_ID:155882538 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1307272 D RGD:9068941 20230128 RGD mRNA:increased expression:glomerular podocytes (rat) PMID:31784544|REF_RGD_ID:155882534 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1307272 D RGD:9068941 20230202 RGD PMID:34852714|REF_RGD_ID:155882542 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21954225 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9004797 Fetal Nutrition Disorders ISO RGD:1307272 D RGD:9068941 20230202 RGD associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) PMID:23977013|REF_RGD_ID:155882570 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1316368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1316368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9007402 Gliosis ISO RGD:1307272 D RGD:9068941 20230202 RGD PMID:34852714|REF_RGD_ID:155882542 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1316368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21954225 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9008297 Motor Disorders ISO RGD:1316368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29326173 12259595 ZEB2 zinc finger E-box binding homeobox 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1316368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19839049 12259608 B3GNT3 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 gene DOID:630 genetic disease ISO RGD:1313012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259616 IQCG IQ motif containing G gene DOID:0111883 Diamond-Blackfan anemia 5 ISO RGD:1345008 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 PMID:16199547|PMID:17576681|PMID:18535205|PMID:22262766|PMID:22689679|PMID:25424902|PMID:25741868|PMID:25946618|PMID:28492532|PMID:32241839|PMID:9536098 12259616 IQCG IQ motif containing G gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1345008 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:18535205|PMID:25424902|PMID:25741868|PMID:25946618|PMID:28492532 12259616 IQCG IQ motif containing G gene DOID:630 genetic disease ISO RGD:1345008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259638 TECPR1 tectonin beta-propeller repeat containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12259638 TECPR1 tectonin beta-propeller repeat containing 1 gene DOID:630 genetic disease ISO RGD:1601877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259638 TECPR1 tectonin beta-propeller repeat containing 1 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1601877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 12259666 TAF15 TATA-box binding protein associated factor 15 gene DOID:3347 osteosarcoma ISO RGD:1320016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14767549 12259666 TAF15 TATA-box binding protein associated factor 15 gene DOID:3371 chondrosarcoma ISO RGD:1320016 D RGD:9068941 20200609 RGD extraskeletal myxoid chondrosarcomas (EMC) PMID:10602519|REF_RGD_ID:1599281 12259666 TAF15 TATA-box binding protein associated factor 15 gene DOID:4549 extraskeletal myxoid chondrosarcoma ISO RGD:1320016 D RGD:7240710 20180130 OMIM 12259666 TAF15 TATA-box binding protein associated factor 15 gene DOID:630 genetic disease ISO RGD:1320016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259666 TAF15 TATA-box binding protein associated factor 15 gene DOID:9000217 Stomach Neoplasms ISO RGD:1320016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12259666 TAF15 TATA-box binding protein associated factor 15 gene DOID:9000918 Disease Progression ISO RGD:1320016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12259686 ARHGAP4 Rho GTPase activating protein 4 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1343373 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12259686 ARHGAP4 Rho GTPase activating protein 4 gene DOID:0050476 Barth syndrome ISO RGD:1343373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12259686 ARHGAP4 Rho GTPase activating protein 4 gene DOID:0050800 creatine transporter deficiency ISO RGD:1343373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 12259686 ARHGAP4 Rho GTPase activating protein 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 12259686 ARHGAP4 Rho GTPase activating protein 4 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1343373 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 12259686 ARHGAP4 Rho GTPase activating protein 4 gene DOID:0112003 immunodeficiency 33 ISO RGD:1343373 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12259686 ARHGAP4 Rho GTPase activating protein 4 gene DOID:10588 adrenoleukodystrophy ISO RGD:1343373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12259686 ARHGAP4 Rho GTPase activating protein 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12259686 ARHGAP4 Rho GTPase activating protein 4 gene DOID:12849 autistic disorder ISO RGD:1343373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12259686 ARHGAP4 Rho GTPase activating protein 4 gene DOID:13628 favism ISO RGD:1343373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12259686 ARHGAP4 Rho GTPase activating protein 4 gene DOID:2729 dyskeratosis congenita ISO RGD:1343373 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12259686 ARHGAP4 Rho GTPase activating protein 4 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1343373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12259686 ARHGAP4 Rho GTPase activating protein 4 gene DOID:607 paraplegia ISO RGD:1343373 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12259686 ARHGAP4 Rho GTPase activating protein 4 gene DOID:630 genetic disease ISO RGD:1343373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259686 ARHGAP4 Rho GTPase activating protein 4 gene DOID:9002720 Splenomegaly ISO RGD:1343373 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12259718 ZBTB48 zinc finger and BTB domain containing 48 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1346774 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12259718 ZBTB48 zinc finger and BTB domain containing 48 gene DOID:630 genetic disease ISO RGD:1346774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259718 ZBTB48 zinc finger and BTB domain containing 48 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12259737 PRR15L proline rich 15 like gene DOID:630 genetic disease ISO RGD:1601848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259746 SH3RF1 SH3 domain containing ring finger 1 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1348094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:22499340|PMID:28492532|PMID:29068549 12259746 SH3RF1 SH3 domain containing ring finger 1 gene DOID:630 genetic disease ISO RGD:1348094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259769 GASK1B golgi associated kinase 1B gene DOID:0080600 COVID-19 ISO RGD:1605394 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12259769 GASK1B golgi associated kinase 1B gene DOID:630 genetic disease ISO RGD:1605394 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259769 GASK1B golgi associated kinase 1B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12259777 ASCL3 achaete-scute family bHLH transcription factor 3 gene DOID:630 genetic disease ISO RGD:1315779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259783 CLEC18C C-type lectin domain family 18 member C gene DOID:630 genetic disease ISO RGD:1605475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259810 F8A1 coagulation factor VIII associated 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1346624 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12259810 F8A1 coagulation factor VIII associated 1 gene DOID:0050476 Barth syndrome ISO RGD:1346624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12259810 F8A1 coagulation factor VIII associated 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1346624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12259810 F8A1 coagulation factor VIII associated 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1346624 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12259810 F8A1 coagulation factor VIII associated 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1346624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12259810 F8A1 coagulation factor VIII associated 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1346624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12259810 F8A1 coagulation factor VIII associated 1 gene DOID:12849 autistic disorder ISO RGD:1346624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12259810 F8A1 coagulation factor VIII associated 1 gene DOID:607 paraplegia ISO RGD:1346624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12259810 F8A1 coagulation factor VIII associated 1 gene DOID:9002720 Splenomegaly ISO RGD:1346624 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12259815 MS4A2 membrane spanning 4-domains A2 gene DOID:0060500 drug allergy ISO RGD:1350065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16839402|PMID:18534082|PMID:20485159 12259815 MS4A2 membrane spanning 4-domains A2 gene DOID:0080600 COVID-19 ISO RGD:1350065 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12259815 MS4A2 membrane spanning 4-domains A2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1350065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 12259815 MS4A2 membrane spanning 4-domains A2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12259815 MS4A2 membrane spanning 4-domains A2 gene DOID:1059 intellectual disability ISO RGD:1350065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12259815 MS4A2 membrane spanning 4-domains A2 gene DOID:2841 asthma susceptibility ISO RGD:1350065 D RGD:9068941 20200609 RGD Atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:polymorphism:CDS:amino acid E237G PMID:8817330|REF_RGD_ID:1599903 12259815 MS4A2 membrane spanning 4-domains A2 gene DOID:2841 asthma susceptibility ISO RGD:1350065 D RGD:9068941 20200609 RGD DNA:SNP: : -109C>T (human) PMID:19862939|REF_RGD_ID:5131092 12259815 MS4A2 membrane spanning 4-domains A2 gene DOID:2841 asthma susceptibility ISO RGD:1350065 D RGD:9068941 20200609 RGD DNA:SNPs: : rs556917, rs502581, rs502419 (human) PMID:21320344|REF_RGD_ID:5131149 12259815 MS4A2 membrane spanning 4-domains A2 gene DOID:2841 asthma susceptibility ISO RGD:1350065 D RGD:9068941 20200609 RGD DNA:SNPs:multiple:, rs573790, rs2583476, rs569108 PMID:19218813|REF_RGD_ID:5131151 12259815 MS4A2 membrane spanning 4-domains A2 gene DOID:3310 atopic dermatitis susceptibility ISO RGD:1350065 D RGD:9068941 20200609 RGD Atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:polymorphism:CDS:amino acid E237G PMID:8817330|REF_RGD_ID:1599903 12259815 MS4A2 membrane spanning 4-domains A2 gene DOID:4483 rhinitis ISO RGD:1350065 D RGD:9068941 20200609 RGD PMID:15480314|REF_RGD_ID:5131152 12259815 MS4A2 membrane spanning 4-domains A2 gene DOID:630 genetic disease ISO RGD:1350065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259815 MS4A2 membrane spanning 4-domains A2 gene DOID:9000772 Bronchial Hyperreactivity susceptibility ISO RGD:1350065 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS: E237G (human) PMID:17430357|REF_RGD_ID:5131116 12259815 MS4A2 membrane spanning 4-domains A2 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:1350065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 12259815 MS4A2 membrane spanning 4-domains A2 gene DOID:9002850 Immediate Hypersensitivity susceptibility ISO RGD:1350065 D RGD:9068941 20200609 RGD Atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:polymorphism:CDS:amino acid E237G PMID:8817330|REF_RGD_ID:1599903 12259815 MS4A2 membrane spanning 4-domains A2 gene DOID:9003157 Respiratory Sounds ISO RGD:1350065 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS: E237G (human) PMID:18269668|REF_RGD_ID:5131102 12259815 MS4A2 membrane spanning 4-domains A2 gene DOID:9008727 Ige Responsiveness, Atopic ISO RGD:1350065 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 12259815 MS4A2 membrane spanning 4-domains A2 gene DOID:9008727 Ige Responsiveness, Atopic susceptibility ISO RGD:1350065 D RGD:7240710 20230505 OMIM 12259858 CARS1 cysteinyl-tRNA synthetase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12259858 CARS1 cysteinyl-tRNA synthetase 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1321833 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12259858 CARS1 cysteinyl-tRNA synthetase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12259858 CARS1 cysteinyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1321833 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259858 CARS1 cysteinyl-tRNA synthetase 1 gene DOID:9006793 MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME ISO RGD:1321833 D RGD:7240710 20200805 OMIM 12259858 CARS1 cysteinyl-tRNA synthetase 1 gene DOID:9006793 MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME ISO RGD:1321833 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microcephaly, developmental delay, and brittle hair syndrome PMID:25741868|PMID:28492532|PMID:30824121 12259894 ANAPC5 anaphase promoting complex subunit 5 gene DOID:630 genetic disease ISO RGD:1314558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259918 ZBTB8OS zinc finger and BTB domain containing 8 opposite strand gene DOID:0060071 pre-malignant neoplasm ISO RGD:1603245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12259918 ZBTB8OS zinc finger and BTB domain containing 8 opposite strand gene DOID:630 genetic disease ISO RGD:1603245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259948 N4BP2 NEDD4 binding protein 2 gene DOID:630 genetic disease ISO RGD:1603992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12259948 N4BP2 NEDD4 binding protein 2 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1603992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 12259989 HAX1 HCLS1 associated protein X-1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12259989 HAX1 HCLS1 associated protein X-1 gene DOID:0050590 severe congenital neutropenia ISO RGD:1607073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe congenital neutropenia PMID:16199547|PMID:17187068|PMID:19036076|PMID:19499579|PMID:22624626|PMID:25741868|PMID:28492532|PMID:31589614|PMID:32054657|PMID:34426522 12259989 HAX1 HCLS1 associated protein X-1 gene DOID:0070146 hereditary sensory neuropathy type 4 ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV PMID:25741868|PMID:28492532 12259989 HAX1 HCLS1 associated protein X-1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12259989 HAX1 HCLS1 associated protein X-1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12259989 HAX1 HCLS1 associated protein X-1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1607073 D RGD:7240710 20180130 OMIM 12259989 HAX1 HCLS1 associated protein X-1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1607073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:10581030|PMID:11519978|PMID:16199547|PMID:17187068|PMID:17576681|PMID:18055975|PMID:18330843|PMID:18337561|PMID:18611981|PMID:19036076|PMID:19118303|PMID:19499579|PMID:20065084|PMID:20177699|PMID:20182745|PMID:20220065|PMID:21108402|PMID:21344642|PMID:22102707|PMID:22624626|PMID:24482108|PMID:25326635|PMID:25741868|PMID:28102861|PMID:28454995|PMID:28492532|PMID:31589614|PMID:31980526|PMID:32005694|PMID:32054657|PMID:32581362|PMID:33381479|PMID:34134972|PMID:34426522|PMID:34826056|PMID:9536098 12259989 HAX1 HCLS1 associated protein X-1 gene DOID:1227 neutropenia ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:28492532|PMID:32581362 12259989 HAX1 HCLS1 associated protein X-1 gene DOID:1540 parathyroid carcinoma ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12259989 HAX1 HCLS1 associated protein X-1 gene DOID:5812 MHC class II deficiency ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12259989 HAX1 HCLS1 associated protein X-1 gene DOID:630 genetic disease ISO RGD:1607073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17187068|PMID:18337561|PMID:19036076|PMID:20065084|PMID:20177699|PMID:20220065|PMID:22102707|PMID:24482108|PMID:25741868|PMID:28492532|PMID:32005694|PMID:33381479|PMID:34134972|PMID:34826056 12259989 HAX1 HCLS1 associated protein X-1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12260009 SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 gene DOID:0112367 Coffin-Siris syndrome 8 ISO RGD:1315563 D RGD:7240710 20190424 OMIM 12260009 SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 gene DOID:0112367 Coffin-Siris syndrome 8 ISO RGD:1315563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 8 | ClinVar Annotator: match by term: SMARCC2-related condition PMID:23556151|PMID:25590979|PMID:25741868|PMID:27620904|PMID:30580808 12260009 SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 gene DOID:10283 prostate cancer ISO RGD:1315563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12260009 SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 gene DOID:1059 intellectual disability ISO RGD:1315563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12260009 SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 gene DOID:630 genetic disease ISO RGD:1315563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30580808 12260009 SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12260009 SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 gene DOID:9006063 Zimmermann-Laband Syndrome 3 ISO RGD:1315563 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Zimmermann-laband syndrome 3 PMID:25741868 12260051 PTCRA pre T cell antigen receptor alpha gene DOID:0050444 infantile Refsum disease ISO RGD:1342695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12260051 PTCRA pre T cell antigen receptor alpha gene DOID:11612 polycystic ovary syndrome ISO RGD:1342695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12260051 PTCRA pre T cell antigen receptor alpha gene DOID:630 genetic disease ISO RGD:1342695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260051 PTCRA pre T cell antigen receptor alpha gene DOID:905 Zellweger syndrome ISO RGD:1342695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:28492532 12260051 PTCRA pre T cell antigen receptor alpha gene DOID:905 Zellweger syndrome ISO RGD:1342695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12260060 ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:11054 urinary bladder cancer ISO RGD:1354069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 12260060 ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:1354069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25774636 12260060 ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:630 genetic disease ISO RGD:1354069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260060 ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1354069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12260101 GRIN2D glutamate ionotropic receptor NMDA type subunit 2D gene DOID:0080456 developmental and epileptic encephalopathy 46 ISO RGD:732718 D RGD:7240710 20190315 OMIM 12260101 GRIN2D glutamate ionotropic receptor NMDA type subunit 2D gene DOID:0080456 developmental and epileptic encephalopathy 46 ISO RGD:732718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 46 PMID:15970596|PMID:25741868|PMID:27616483|PMID:28492532|PMID:30280376|PMID:31504254|PMID:32860008|PMID:33057194 12260101 GRIN2D glutamate ionotropic receptor NMDA type subunit 2D gene DOID:1059 intellectual disability ISO RGD:732718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12260101 GRIN2D glutamate ionotropic receptor NMDA type subunit 2D gene DOID:1826 epilepsy ISO RGD:732718 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12260101 GRIN2D glutamate ionotropic receptor NMDA type subunit 2D gene DOID:5419 schizophrenia ISO RGD:732718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19856012 12260101 GRIN2D glutamate ionotropic receptor NMDA type subunit 2D gene DOID:5419 schizophrenia ISO RGD:732718 D RGD:9068941 20200609 RGD mRNA:increased expression:right hemisphere of cerebellum (human) PMID:19856012|REF_RGD_ID:2325945 12260101 GRIN2D glutamate ionotropic receptor NMDA type subunit 2D gene DOID:630 genetic disease ISO RGD:732718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11854433|PMID:15970596|PMID:17504910|PMID:18272676|PMID:25741868|PMID:28492532|PMID:30280376|PMID:31504254|PMID:9285588 12260101 GRIN2D glutamate ionotropic receptor NMDA type subunit 2D gene DOID:9002955 Nerve Degeneration ISO RGD:732718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19911010 12260101 GRIN2D glutamate ionotropic receptor NMDA type subunit 2D gene DOID:936 brain disease ISO RGD:732718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:28492532 12260118 PITX3 paired like homeodomain 3 gene DOID:0060648 anterior segment dysgenesis ISO RGD:732297 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:18989383|PMID:9620774 12260118 PITX3 paired like homeodomain 3 gene DOID:0060648 anterior segment dysgenesis ISO RGD:732297 D RGD:9068941 20220512 RGD DNA:insertion:exon:c.657ins17bp PMID:18989383|REF_RGD_ID:11535067 12260118 PITX3 paired like homeodomain 3 gene DOID:0060648 anterior segment dysgenesis ISO RGD:736766 D RGD:9068941 20221027 MouseDO 12260118 PITX3 paired like homeodomain 3 gene DOID:0080606 anterior segment dysgenesis 1 ISO RGD:732297 D RGD:7240710 20190327 OMIM 12260118 PITX3 paired like homeodomain 3 gene DOID:0080606 anterior segment dysgenesis 1 ISO RGD:732297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES | ClinVar Annotator: match by term: Anterior segment dysgenesis 1 PMID:10361984|PMID:15286169|PMID:17888164|PMID:18989383|PMID:24555714|PMID:25741868|PMID:28492532|PMID:29405783|PMID:6801987|PMID:9620774 12260118 PITX3 paired like homeodomain 3 gene DOID:0110249 cataract 11 multiple types ISO RGD:732297 D RGD:7240710 20180130 OMIM 12260118 PITX3 paired like homeodomain 3 gene DOID:0110249 cataract 11 multiple types ISO RGD:732297 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cataract 11 multiple types | ClinVar Annotator: match by term: Cataract 11, posterior polar PMID:10361984|PMID:15286169|PMID:16565358|PMID:17888164|PMID:18989383|PMID:24555714|PMID:25741868|PMID:28492532|PMID:29405783|PMID:6801987|PMID:9620774 12260118 PITX3 paired like homeodomain 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:732297 D RGD:9068941 20200609 RGD DNA:missense mutation, insertion:cds:p.S13N, G219fsX226 (human) PMID:9620774|REF_RGD_ID:737764 12260118 PITX3 paired like homeodomain 3 gene DOID:10629 microphthalmia ISO RGD:732297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16565358 12260118 PITX3 paired like homeodomain 3 gene DOID:10629 microphthalmia ISO RGD:736766 D RGD:9068941 20200609 RGD DNA:nonsense mutation:cl444C>A(mouse) PMID:25347445|REF_RGD_ID:11535071 12260118 PITX3 paired like homeodomain 3 gene DOID:14330 Parkinson's disease ISO RGD:736766 D RGD:9068941 20200609 RGD PMID:18573342|REF_RGD_ID:11535079 12260118 PITX3 paired like homeodomain 3 gene DOID:14330 Parkinson's disease ISO RGD:736766 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 12260118 PITX3 paired like homeodomain 3 gene DOID:630 genetic disease ISO RGD:732297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260118 PITX3 paired like homeodomain 3 gene DOID:83 cataract ISO RGD:732297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 12260118 PITX3 paired like homeodomain 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 12260118 PITX3 paired like homeodomain 3 gene DOID:9003814 Neurologic Manifestations ISO RGD:732297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16565358 12260118 PITX3 paired like homeodomain 3 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:732297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 12260118 PITX3 paired like homeodomain 3 gene DOID:9005728 Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities ISO RGD:732297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities PMID:15286169|PMID:16565358 12260118 PITX3 paired like homeodomain 3 gene DOID:9008804 Aphakia ISO RGD:736766 D RGD:9068941 20200609 RGD DNA:deletions:promoter, cds: PMID:11247667|REF_RGD_ID:11535075 12260118 PITX3 paired like homeodomain 3 gene DOID:9008804 Aphakia ISO RGD:736766 D RGD:9068941 20200609 RGD DNA:nonsense mutation:cl444C>A(mouse) PMID:25347445|REF_RGD_ID:11535071 12260125 CASP8 caspase 8 gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:620945 D RGD:9068941 20200609 RGD associated with gastric adenocarcinoma PMID:29588340|REF_RGD_ID:13792594 12260125 CASP8 caspase 8 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:730846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12260125 CASP8 caspase 8 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:730846 D RGD:7240710 20180328 OMIM 12260125 CASP8 caspase 8 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:730846 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:15601643|PMID:15998955|PMID:16199547|PMID:17293864|PMID:17576681|PMID:19380800|PMID:19763152|PMID:20307669|PMID:22406018|PMID:24033266|PMID:25213377|PMID:25329329|PMID:25640679|PMID:25741868|PMID:25814141|PMID:26193622|PMID:26556299|PMID:28492532|PMID:29729943|PMID:30267714|PMID:30326257|PMID:32135276|PMID:34362880|PMID:9536098 12260125 CASP8 caspase 8 gene DOID:104 bacterial infectious disease ISO RGD:730847 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:16443785|REF_RGD_ID:2311430 12260125 CASP8 caspase 8 gene DOID:10652 Alzheimer's disease ISO RGD:730846 D RGD:9068941 20200609 RGD PMID:12633148|PMID:16772874|REF_RGD_ID:13782268|REF_RGD_ID:13782269 12260125 CASP8 caspase 8 gene DOID:10652 Alzheimer's disease treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:29642617|REF_RGD_ID:13782291 12260125 CASP8 caspase 8 gene DOID:10763 hypertension ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:27929425|REF_RGD_ID:13782308 12260125 CASP8 caspase 8 gene DOID:10952 nephritis treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:28039298|REF_RGD_ID:13782307 12260125 CASP8 caspase 8 gene DOID:11166 papillomavirus infectious disease ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23358896 12260125 CASP8 caspase 8 gene DOID:114 heart disease ISO RGD:620945 D RGD:9068941 20200609 RGD associated with Multiple Trauma PMID:28825094|REF_RGD_ID:13782301 12260125 CASP8 caspase 8 gene DOID:11446 sciatic neuropathy ISO RGD:620945 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion PMID:29659443|REF_RGD_ID:13782273 12260125 CASP8 caspase 8 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:26431790|REF_RGD_ID:11537057 12260125 CASP8 caspase 8 gene DOID:12858 Huntington's disease ISO RGD:730846 D RGD:9068941 20200609 RGD protein:altered localization:cerebellum: PMID:10197541|REF_RGD_ID:734695 12260125 CASP8 caspase 8 gene DOID:12930 dilated cardiomyopathy ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:26004897|REF_RGD_ID:13782348 12260125 CASP8 caspase 8 gene DOID:1324 lung cancer ISO RGD:730846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer, protection against PMID:17450141|PMID:18305469 12260125 CASP8 caspase 8 gene DOID:1612 breast cancer ISO RGD:730846 D RGD:7240710 20180711 OMIM 12260125 CASP8 caspase 8 gene DOID:1612 breast cancer ISO RGD:730846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, protection against PMID:15601643|PMID:15998955|PMID:17293864|PMID:24033266|PMID:28492532 12260125 CASP8 caspase 8 gene DOID:1793 pancreatic cancer ISO RGD:730846 D RGD:9068941 20200609 RGD DNA:SNP: :rs1045485 (human) PMID:19843670|REF_RGD_ID:2317230 12260125 CASP8 caspase 8 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:730846 D RGD:9068941 20200609 RGD DNA:deletion, insertion:promoter (human) PMID:18483392|REF_RGD_ID:2315744 12260125 CASP8 caspase 8 gene DOID:1824 status epilepticus ISO RGD:620945 D RGD:9068941 20200609 RGD protein:increased activity:hippocampus PMID:15036620|REF_RGD_ID:2311439 12260125 CASP8 caspase 8 gene DOID:1824 status epilepticus ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18571097 12260125 CASP8 caspase 8 gene DOID:1909 melanoma ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18563783|PMID:21983787 12260125 CASP8 caspase 8 gene DOID:224 transient cerebral ischemia ISO RGD:620945 D RGD:9068941 20220527 RGD protein:increased expression:cerebral cortex: PMID:18096138|REF_RGD_ID:4142863 12260125 CASP8 caspase 8 gene DOID:224 transient cerebral ischemia treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:30148677|REF_RGD_ID:13782286 12260125 CASP8 caspase 8 gene DOID:2773 contact dermatitis ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12260125 CASP8 caspase 8 gene DOID:299 adenocarcinoma ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 12260125 CASP8 caspase 8 gene DOID:3042 allergic contact dermatitis ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 12260125 CASP8 caspase 8 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:28496315|REF_RGD_ID:13782303 12260125 CASP8 caspase 8 gene DOID:3310 atopic dermatitis ISO RGD:730847 D RGD:9068941 20220825 MouseDO OMIM:603165 12260125 CASP8 caspase 8 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:730846 D RGD:9068941 20220811 RGD mRNA,protein:decreased expression:esophagus squamous epithelium (human) PMID:31885720|REF_RGD_ID:153300949 12260125 CASP8 caspase 8 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20471133 12260125 CASP8 caspase 8 gene DOID:417 autoimmune disease ISO RGD:730846 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:17880769|REF_RGD_ID:2311245 12260125 CASP8 caspase 8 gene DOID:4195 hyperglycemia ISO RGD:730847 D RGD:9068941 20200609 RGD PMID:19194987|REF_RGD_ID:2311428 12260125 CASP8 caspase 8 gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:730846 D RGD:9068941 20210521 RGD DNA:SNP:5'utr: (rs1035142) (human) PMID:21472143|REF_RGD_ID:126925218 12260125 CASP8 caspase 8 gene DOID:5082 liver cirrhosis ISO RGD:730847 D RGD:9068941 20200609 RGD associated with cholestasis PMID:29105510|REF_RGD_ID:13782297 12260125 CASP8 caspase 8 gene DOID:5327 retinal detachment treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:28633009|REF_RGD_ID:13782302 12260125 CASP8 caspase 8 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23358896 12260125 CASP8 caspase 8 gene DOID:557 kidney disease ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:29257007|REF_RGD_ID:13782293 12260125 CASP8 caspase 8 gene DOID:612 primary immunodeficiency disease ISO RGD:730846 D RGD:9068941 20200609 RGD PMID:12353035|REF_RGD_ID:734696 12260125 CASP8 caspase 8 gene DOID:630 genetic disease ISO RGD:730846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12260125 CASP8 caspase 8 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12260125 CASP8 caspase 8 gene DOID:684 hepatocellular carcinoma ISO RGD:730846 D RGD:7240710 20180130 OMIM 12260125 CASP8 caspase 8 gene DOID:684 hepatocellular carcinoma severity ISO RGD:730846 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:insertion/deletion:promoter: (rs3834129) (human) PMID:28643196|REF_RGD_ID:14695027 12260125 CASP8 caspase 8 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:29133031|REF_RGD_ID:13782296 12260125 CASP8 caspase 8 gene DOID:700 mitochondrial metabolism disease ISO RGD:730846 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 12260125 CASP8 caspase 8 gene DOID:9000117 Esophageal Neoplasms ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17450141|PMID:21472143 12260125 CASP8 caspase 8 gene DOID:9000197 Edema ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 12260125 CASP8 caspase 8 gene DOID:9000217 Stomach Neoplasms ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17450141 12260125 CASP8 caspase 8 gene DOID:9000469 Viral Myocarditis ISO RGD:730847 D RGD:9068941 20200609 RGD PMID:21055654|REF_RGD_ID:13702877 12260125 CASP8 caspase 8 gene DOID:9000855 Experimental Radiation Injuries treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:24939579|REF_RGD_ID:13782350 12260125 CASP8 caspase 8 gene DOID:9000998 Brain Injuries ISO RGD:620945 D RGD:9068941 20200609 RGD protein:altered localization PMID:15590916|REF_RGD_ID:1624191 12260125 CASP8 caspase 8 gene DOID:9001708 Hemorrhagic Shock ISO RGD:620945 D RGD:9068941 20200609 RGD associated with Brain Injuries, Traumatic PMID:29061477|REF_RGD_ID:13782298 12260125 CASP8 caspase 8 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:730846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12260125 CASP8 caspase 8 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:23423194|REF_RGD_ID:8661760 12260125 CASP8 caspase 8 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:730847 D RGD:9068941 20200609 RGD PMID:15300206|REF_RGD_ID:14695087 12260125 CASP8 caspase 8 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:620945 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:29606028|REF_RGD_ID:13792586 12260125 CASP8 caspase 8 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:620945 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:28456626|REF_RGD_ID:13782304 12260125 CASP8 caspase 8 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:730847 D RGD:9068941 20200609 RGD PMID:23833961|REF_RGD_ID:13702874 12260125 CASP8 caspase 8 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17971790 12260125 CASP8 caspase 8 gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:28096675|REF_RGD_ID:13782306 12260125 CASP8 caspase 8 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:620945 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:spinal cord PMID:18521931|REF_RGD_ID:2311436 12260125 CASP8 caspase 8 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17450141 12260125 CASP8 caspase 8 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:23046993|REF_RGD_ID:13782359 12260125 CASP8 caspase 8 gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:29635023|REF_RGD_ID:13782292 12260125 CASP8 caspase 8 gene DOID:9004009 Reperfusion Injury ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23875703 12260125 CASP8 caspase 8 gene DOID:9004332 Osteoarthritis, Experimental treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:29621761|REF_RGD_ID:13782275 12260125 CASP8 caspase 8 gene DOID:9004354 Alcohol-Related Disorders treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:30118883|REF_RGD_ID:13782287 12260125 CASP8 caspase 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12260125 CASP8 caspase 8 gene DOID:9004464 Skin Neoplasms ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18563783 12260125 CASP8 caspase 8 gene DOID:9004484 Sepsis ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:18570579|REF_RGD_ID:2311435 12260125 CASP8 caspase 8 gene DOID:9004484 Sepsis treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:29180187|REF_RGD_ID:13782295 12260125 CASP8 caspase 8 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:730847 D RGD:9068941 20200609 RGD PMID:12810955|REF_RGD_ID:14695025 12260125 CASP8 caspase 8 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:29755641|REF_RGD_ID:13782288 12260125 CASP8 caspase 8 gene DOID:9005020 Brain Contusion treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:28140659|REF_RGD_ID:13782305 12260125 CASP8 caspase 8 gene DOID:9005172 Lung Neoplasms ISO RGD:730846 D RGD:7240710 20180130 OMIM 12260125 CASP8 caspase 8 gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:20732338|REF_RGD_ID:10053708 12260125 CASP8 caspase 8 gene DOID:9005539 Familial Prostate Cancer ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12260125 CASP8 caspase 8 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620945 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:pituitary gland, prolactin secreting cell PMID:15976052|REF_RGD_ID:2311319 12260125 CASP8 caspase 8 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620945 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:pituitary gland PMID:19540304|REF_RGD_ID:2311427 12260125 CASP8 caspase 8 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730847 D RGD:9068941 20200609 RGD PMID:17563067|REF_RGD_ID:2311429 12260125 CASP8 caspase 8 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:28843149|REF_RGD_ID:13782300 12260125 CASP8 caspase 8 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:28992627|REF_RGD_ID:13782299 12260125 CASP8 caspase 8 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:25447754|REF_RGD_ID:10053709 12260125 CASP8 caspase 8 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:730846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12260125 CASP8 caspase 8 gene DOID:9007692 Insulin Resistance ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:29748970|REF_RGD_ID:13782289 12260125 CASP8 caspase 8 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620945 D RGD:9068941 20200609 RGD protein:increased activity:cardiomyocyte PMID:11934844|REF_RGD_ID:13782263 12260125 CASP8 caspase 8 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14998631 12260125 CASP8 caspase 8 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17450141 12260125 CASP8 caspase 8 gene DOID:9008939 Breast Neoplasms ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15601643|PMID:17293864|PMID:17450141|PMID:29915430 12260125 CASP8 caspase 8 gene DOID:9008952 Breast Cancer, Familial ISO RGD:730846 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 12260125 CASP8 caspase 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15531508 12260125 CASP8 caspase 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730847 D RGD:9068941 20200609 RGD PMID:17563067|REF_RGD_ID:2311429 12260125 CASP8 caspase 8 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730847 D RGD:9068941 20200609 RGD PMID:12753807|REF_RGD_ID:2311431 12260125 CASP8 caspase 8 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22010212 12260154 CD1A6 CD1a6 molecule gene DOID:0080600 COVID-19 ISO RGD:1351549 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12260154 CD1A6 CD1a6 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1351549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12260154 CD1A6 CD1a6 molecule gene DOID:630 genetic disease ISO RGD:1351549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260154 CD1A6 CD1a6 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12260180 GPRIN2 G protein regulated inducer of neurite outgrowth 2 gene DOID:5419 schizophrenia ISO RGD:1318969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12260180 GPRIN2 G protein regulated inducer of neurite outgrowth 2 gene DOID:630 genetic disease ISO RGD:1318969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260197 RBM22 RNA binding motif protein 22 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314003 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12260197 RBM22 RNA binding motif protein 22 gene DOID:630 genetic disease ISO RGD:1314003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260197 RBM22 RNA binding motif protein 22 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314003 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:0060001 withdrawal disorder ISO RGD:732269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878694 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:732269 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:28492532 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:25741868 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:0070051 autosomal dominant intellectual developmental disorder 21 ISO RGD:732269 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome PMID:25741868 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy PMID:25741868 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:732269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:1059 intellectual disability ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:10652 Alzheimer's disease ISO RGD:732269 D RGD:9068941 20200609 RGD PMID:24156266|REF_RGD_ID:13792688 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:10907 microcephaly ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:12849 autistic disorder ISO RGD:732269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15830322 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:12858 Huntington's disease ISO RGD:10686 D RGD:9068941 20200609 RGD PMID:17409241|REF_RGD_ID:13432195 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:12858 Huntington's disease onset ISO RGD:732269 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1969060 (human) PMID:15742215|REF_RGD_ID:13432556 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:12858 Huntington's disease onset ISO RGD:732269 D RGD:9068941 20200609 RGD DNA:SNPs: :rs8057394, rs2650427 (human) PMID:17569088|REF_RGD_ID:13432554 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:1561 cognitive disorder ISO RGD:2737 D RGD:9068941 20200609 RGD associated with Fetal Hypoxia;mRNA, protein:decreased expression:hippocampus PMID:26656067|REF_RGD_ID:13792690 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:1824 status epilepticus ISO RGD:2737 D RGD:9068941 20200609 RGD PMID:25457025|REF_RGD_ID:13792697 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:1826 epilepsy ISO RGD:732269 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:23933819|PMID:26467025|PMID:28492532 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:1909 melanoma ISO RGD:732269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:2234 focal epilepsy ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:23933819|PMID:23933820|PMID:25164438|PMID:25741868|PMID:26467025|PMID:27640074|PMID:28492532|PMID:29124671 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:2538 Landau-Kleffner syndrome ISO RGD:732269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:16199547|PMID:16537520|PMID:17576681|PMID:18414213|PMID:20384727|PMID:20890276|PMID:21376300|PMID:21559497|PMID:21681106|PMID:23033978|PMID:23408766|PMID:23933818|PMID:23933819|PMID:23933820|PMID:24125812|PMID:24372385|PMID:24828792|PMID:24848745|PMID:25164438|PMID:25326635|PMID:25356970|PMID:25498981|PMID:25640679|PMID:25726841|PMID:25741868|PMID:25904555|PMID:26220384|PMID:26283219|PMID:26350204|PMID:26467025|PMID:26601054|PMID:26648591|PMID:26781712|PMID:26806548|PMID:27288002|PMID:27640074|PMID:27781031|PMID:27839871|PMID:28102150|PMID:28109652|PMID:28182669|PMID:28242877|PMID:28333917|PMID:28492532|PMID:28936771|PMID:29056244|PMID:29124671|PMID:29358611|PMID:29655203|PMID:29961510|PMID:30544257|PMID:31098720|PMID:31429998|PMID:32238909|PMID:32722525|PMID:33258288|PMID:33391346|PMID:7574460|PMID:9536098 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:2560 morphine dependence ISO RGD:732269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878694 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:3312 bipolar disorder ISO RGD:732269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:3312 bipolar disorder ISO RGD:732269 D RGD:9068941 20200609 RGD DNA:repeat:promoter:(GT)18-33 (human) PMID:12809987|REF_RGD_ID:1358644 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:732269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:16199547|PMID:18414213|PMID:23933818|PMID:23933819|PMID:23933820|PMID:25726841|PMID:25741868|PMID:25904555|PMID:26467025|PMID:26601054|PMID:27288002|PMID:27839871|PMID:28102150|PMID:28109652|PMID:28242877|PMID:28492532|PMID:29124671|PMID:29358611|PMID:30544257|PMID:7574460 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:3891 placental insufficiency ISO RGD:2737 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus (rat) PMID:19144756|REF_RGD_ID:2326049 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:5419 schizophrenia ISO RGD:732269 D RGD:9068941 20200609 RGD DNA:polymorphism:G/T:promoter PMID:17011703|REF_RGD_ID:1642198 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:5419 schizophrenia ISO RGD:732269 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex layers 3-4 PMID:18534564|REF_RGD_ID:6480428 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:5812 MHC class II deficiency ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:630 genetic disease ISO RGD:732269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:20890276|PMID:21559497|PMID:23033978|PMID:23408766|PMID:23933818|PMID:23933819|PMID:23933820|PMID:25164438|PMID:25356970|PMID:25498981|PMID:25726841|PMID:25741868|PMID:25904555|PMID:26220384|PMID:26283219|PMID:26350204|PMID:26467025|PMID:26601054|PMID:26781712|PMID:27288002|PMID:27640074|PMID:27781031|PMID:27839871|PMID:28109652|PMID:28492532|PMID:29124671|PMID:29358611|PMID:30544257|PMID:31098720|PMID:31429998 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:8725 vascular dementia ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:732269 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:16199547|PMID:23933818|PMID:23933819|PMID:23933820|PMID:25741868|PMID:28102150|PMID:28492532|PMID:29124671|PMID:29358611|PMID:30544257|PMID:7574460 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9001793 Generalized Epilepsy ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:28492532 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9002211 Hyperalgesia ISO RGD:2737 D RGD:9068941 20200609 RGD PMID:29758384|REF_RGD_ID:13792698 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9002231 Fetal Growth Retardation ISO RGD:2737 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortical neuron (rat) PMID:20398734|REF_RGD_ID:4107070 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9002510 Focal Epilepsy with Speech Disorder and with or without Mental Retardation ISO RGD:732269 D RGD:7240710 20180130 OMIM 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9002510 Focal Epilepsy with Speech Disorder and with or without Mental Retardation ISO RGD:732269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia, intellectual disability and language impairment | ClinVar Annotator: match by term: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT PMID:16199547|PMID:17576681|PMID:18414213|PMID:20890276|PMID:23933818|PMID:23933819|PMID:23933820|PMID:25726841|PMID:25741868|PMID:25904555|PMID:26467025|PMID:26601054|PMID:27288002|PMID:27839871|PMID:28102150|PMID:28109652|PMID:28242877|PMID:28492532|PMID:29124671|PMID:29358611|PMID:30544257|PMID:7574460|PMID:9536098 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2737 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus (rat) PMID:19761817|REF_RGD_ID:2325954 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9003736 Central Nervous System Viral Diseases ISO RGD:2737 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:19660546|REF_RGD_ID:2325963 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9004009 Reperfusion Injury ISO RGD:2737 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cerebral cortex, hippocampus (rat) PMID:20350575|REF_RGD_ID:2325867 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:30544257 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9004484 Sepsis ISO RGD:2737 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:19837828|REF_RGD_ID:2325949 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9005466 Language Development Disorders ISO RGD:732269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23933820 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:28492532|PMID:30544257 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9008086 Developmental Disabilities ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9008443 Colorectal Neoplasms ISO RGD:732269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17922030 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:92 speech disorder ISO RGD:732269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23933820 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9256 colorectal cancer ISO RGD:732269 D RGD:9068941 20211231 RGD DNA:hypermethylation:promoter (human) PMID:17922030|REF_RGD_ID:150539451 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:732269 D RGD:9068941 20211231 RGD right-sided colorectal cancer;DNA:mutations:multiple (human) PMID:33106877|REF_RGD_ID:150539450 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9261 nasopharynx carcinoma ISO RGD:732269 D RGD:9068941 20211231 RGD protein:decreased expression:nasopharynx (human) PMID:26681223|REF_RGD_ID:150539449 12260212 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:2737 D RGD:9068941 20200609 RGD PMID:25457025|REF_RGD_ID:13792697 12260236 SRCIN1 SRC kinase signaling inhibitor 1 gene DOID:630 genetic disease ISO RGD:1606779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260236 SRCIN1 SRC kinase signaling inhibitor 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1606779 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27506785 12260278 NTMT1 N-terminal Xaa-Pro-Lys N-methyltransferase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12260278 NTMT1 N-terminal Xaa-Pro-Lys N-methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1606300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260297 SLC25A5 solute carrier family 25 member 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12260297 SLC25A5 solute carrier family 25 member 5 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:732042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 12260297 SLC25A5 solute carrier family 25 member 5 gene DOID:12849 autistic disorder ISO RGD:732042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12260297 SLC25A5 solute carrier family 25 member 5 gene DOID:1324 lung cancer ISO RGD:732042 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12260297 SLC25A5 solute carrier family 25 member 5 gene DOID:5409 lung small cell carcinoma ISO RGD:732042 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 12260297 SLC25A5 solute carrier family 25 member 5 gene DOID:630 genetic disease ISO RGD:732042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260305 ANXA4 annexin A4 gene DOID:0060071 pre-malignant neoplasm ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12260305 ANXA4 annexin A4 gene DOID:305 carcinoma ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12260305 ANXA4 annexin A4 gene DOID:4450 renal cell carcinoma ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 12260305 ANXA4 annexin A4 gene DOID:630 genetic disease ISO RGD:735938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260305 ANXA4 annexin A4 gene DOID:684 hepatocellular carcinoma ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12260305 ANXA4 annexin A4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12260305 ANXA4 annexin A4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 12260305 ANXA4 annexin A4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12260305 ANXA4 annexin A4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12260305 ANXA4 annexin A4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12260305 ANXA4 annexin A4 gene DOID:9007188 Liver Neoplasms ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12260305 ANXA4 annexin A4 gene DOID:9119 acute myeloid leukemia ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12260325 WDFY2 WD repeat and FYVE domain containing 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1316474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12260325 WDFY2 WD repeat and FYVE domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1316474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12260325 WDFY2 WD repeat and FYVE domain containing 2 gene DOID:630 genetic disease ISO RGD:1316474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260325 WDFY2 WD repeat and FYVE domain containing 2 gene DOID:893 Wilson disease ISO RGD:1316474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:28492532 12260342 BNIP5 BCL2 interacting protein 5 gene DOID:0050553 JMP syndrome ISO RGD:1605195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12260342 BNIP5 BCL2 interacting protein 5 gene DOID:10283 prostate cancer ISO RGD:1605195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12260391 NTAN1 N-terminal asparagine amidase gene DOID:12849 autistic disorder ISO RGD:1350127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12260391 NTAN1 N-terminal asparagine amidase gene DOID:1826 epilepsy ISO RGD:1350127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12260391 NTAN1 N-terminal asparagine amidase gene DOID:5419 schizophrenia ISO RGD:1350127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12260391 NTAN1 N-terminal asparagine amidase gene DOID:630 genetic disease ISO RGD:1350127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260405 LOC611538 C-type lectin domain family 4 member E gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1344050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12260405 LOC611538 C-type lectin domain family 4 member E gene DOID:0060758 immunodeficiency with hyper-IgM type 2 ISO RGD:1344050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 PMID:16964591|PMID:28492532 12260405 LOC611538 C-type lectin domain family 4 member E gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1344050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12260405 LOC611538 C-type lectin domain family 4 member E gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1344050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12260405 LOC611538 C-type lectin domain family 4 member E gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1344050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12260405 LOC611538 C-type lectin domain family 4 member E gene DOID:0111621 Temtamy syndrome ISO RGD:1344050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12260405 LOC611538 C-type lectin domain family 4 member E gene DOID:630 genetic disease ISO RGD:1344050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260405 LOC611538 C-type lectin domain family 4 member E gene DOID:850 lung disease ISO RGD:1344050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21602193 12260405 LOC611538 C-type lectin domain family 4 member E gene DOID:9000998 Brain Injuries ISO RGD:1344050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 12260405 LOC611538 C-type lectin domain family 4 member E gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1344050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12260415 FGF3 fibroblast growth factor 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1346722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17656375 12260415 FGF3 fibroblast growth factor 3 gene DOID:1059 intellectual disability ISO RGD:1346722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12260415 FGF3 fibroblast growth factor 3 gene DOID:630 genetic disease ISO RGD:1346722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12260415 FGF3 fibroblast growth factor 3 gene DOID:674 cleft palate ISO RGD:1346722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 12260415 FGF3 fibroblast growth factor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1346722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25822088 12260415 FGF3 fibroblast growth factor 3 gene DOID:9000955 Acute Otitis Media ISO RGD:732330 D RGD:9068941 20210611 RGD mRNA:decreased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 12260415 FGF3 fibroblast growth factor 3 gene DOID:9001349 Stomatognathic Diseases ISO RGD:1346722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17656375 12260415 FGF3 fibroblast growth factor 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1346722 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12260415 FGF3 fibroblast growth factor 3 gene DOID:9005439 Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia ISO RGD:1346722 D RGD:7240710 20180130 OMIM 12260415 FGF3 fibroblast growth factor 3 gene DOID:9005439 Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia ISO RGD:1346722 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia | ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM) PMID:17236138|PMID:18435799|PMID:19950373|PMID:21306635|PMID:21480479|PMID:22993869|PMID:25741868|PMID:28492532|PMID:31336982|PMID:33187236 12260415 FGF3 fibroblast growth factor 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1346722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12260415 FGF3 fibroblast growth factor 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1346722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17656375 12260415 FGF3 fibroblast growth factor 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1346722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21936542 12260415 FGF3 fibroblast growth factor 3 gene DOID:9296 cleft lip ISO RGD:1346722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 12260420 ANGPTL1 angiopoietin like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1347249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12260420 ANGPTL1 angiopoietin like 1 gene DOID:630 genetic disease ISO RGD:1347249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260420 ANGPTL1 angiopoietin like 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1347249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12260420 ANGPTL1 angiopoietin like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12260435 ARL1 ADP ribosylation factor like GTPase 1 gene DOID:630 genetic disease ISO RGD:732961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260445 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12260445 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1346001 D RGD:7240710 20180130 OMIM 12260445 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1346001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:11782983|PMID:15746149|PMID:17576681|PMID:23901204|PMID:25741868|PMID:26235985|PMID:26467025|PMID:26467484|PMID:28492532|PMID:30985297|PMID:9536098 12260445 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1346001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 12260445 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:0111809 syndromic microphthalmia 2 ISO RGD:1346001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculofaciocardiodental syndrome PMID:28492532 12260445 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:0112105 X-linked parkinsonism-spasticity syndrome ISO RGD:1346001 D RGD:7240710 20180130 OMIM 12260445 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:0112105 X-linked parkinsonism-spasticity syndrome ISO RGD:1346001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked parkinsonism-spasticity syndrome PMID:20629132|PMID:23595882 12260445 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:10763 hypertension ISO RGD:1561269 D RGD:9068941 20200609 RGD PMID:21321306|REF_RGD_ID:5132599 12260445 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:12849 autistic disorder ISO RGD:1346001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12260445 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:630 genetic disease ISO RGD:1346001 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467484|PMID:28492532 12260445 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:9000744 Congenital Disorder of Glycosylation Type IIr ISO RGD:1346001 D RGD:7240710 20200429 OMIM 12260445 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:9000744 Congenital Disorder of Glycosylation Type IIr ISO RGD:1346001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIr PMID:25741868|PMID:29127204 12260445 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:9000784 Fibrosis ISO RGD:1346001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21795644 12260445 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12260445 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1346001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 12260445 ATP6AP2 ATPase H+ transporting accessory protein 2 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1346001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 12260462 UCN2 urocortin 2 gene DOID:0060180 colitis ISO RGD:620765 D RGD:9068941 20200609 RGD mRNA:increased expression:colon (rat) PMID:17586086|REF_RGD_ID:5131259 12260462 UCN2 urocortin 2 gene DOID:10763 hypertension ISO RGD:1348669 D RGD:9068941 20200609 RGD human protein in rat model PMID:19204182|REF_RGD_ID:5508437 12260462 UCN2 urocortin 2 gene DOID:1936 atherosclerosis ISO RGD:1348669 D RGD:9068941 20200609 RGD protein:increased expression:coronary artery, endothelium (human) PMID:16026900|REF_RGD_ID:5508308 12260462 UCN2 urocortin 2 gene DOID:6000 congestive heart failure ISO RGD:1348669 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16330704 12260462 UCN2 urocortin 2 gene DOID:6000 congestive heart failure ISO RGD:1348669 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium (human) PMID:12076554|REF_RGD_ID:5508210 12260462 UCN2 urocortin 2 gene DOID:630 genetic disease ISO RGD:1348669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260462 UCN2 urocortin 2 gene DOID:9001109 Anorexia ISO RGD:1348669 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17627984 12260462 UCN2 urocortin 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1348669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12260462 UCN2 urocortin 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1348669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12260467 KRTAP16-1 keratin associated protein 16-1 gene DOID:630 genetic disease ISO RGD:1602313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260477 GPR135 G protein-coupled receptor 135 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736248 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:28722770 12260477 GPR135 G protein-coupled receptor 135 gene DOID:630 genetic disease ISO RGD:736248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260481 TOE1 target of EGR1, exonuclease gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1319240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12260481 TOE1 target of EGR1, exonuclease gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1319240 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28092684 12260481 TOE1 target of EGR1, exonuclease gene DOID:0060276 pontocerebellar hypoplasia type 7 ISO RGD:1319240 D RGD:7240710 20190315 OMIM 12260481 TOE1 target of EGR1, exonuclease gene DOID:0060276 pontocerebellar hypoplasia type 7 ISO RGD:1319240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 7 PMID:18271935|PMID:21594990|PMID:25741868|PMID:28092684|PMID:28492532 12260481 TOE1 target of EGR1, exonuclease gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1319240 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:12056405|PMID:14618256|PMID:16199547|PMID:16408224|PMID:17576681|PMID:18271935|PMID:18534194|PMID:19725997|PMID:20663686|PMID:22473953|PMID:25186627|PMID:25741868|PMID:26467025|PMID:28492532|PMID:36988593|PMID:9536098 12260481 TOE1 target of EGR1, exonuclease gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12260481 TOE1 target of EGR1, exonuclease gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1319240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12260481 TOE1 target of EGR1, exonuclease gene DOID:10534 stomach cancer ISO RGD:1319240 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:14618256|PMID:22473953|PMID:25741868|PMID:28492532|PMID:36988593 12260481 TOE1 target of EGR1, exonuclease gene DOID:1520 colon carcinoma ISO RGD:1319240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:18271935|PMID:25741868|PMID:28492532 12260481 TOE1 target of EGR1, exonuclease gene DOID:630 genetic disease ISO RGD:1319240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28092684|PMID:28492532|PMID:9536098 12260481 TOE1 target of EGR1, exonuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12056405|PMID:14618256|PMID:16408224|PMID:17576681|PMID:18271935|PMID:18534194|PMID:19725997|PMID:20663686|PMID:20725929|PMID:22473953|PMID:25186627|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 12260481 TOE1 target of EGR1, exonuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319240 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12056405|PMID:14618256|PMID:16199547|PMID:16408224|PMID:17576681|PMID:18271935|PMID:18534194|PMID:19725997|PMID:20663686|PMID:22473953|PMID:25186627|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28644590|PMID:36988593|PMID:9536098 12260493 MIR660 microRNA mir-660 gene DOID:12849 autistic disorder ISO RGD:1601669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12260493 MIR660 microRNA mir-660 gene DOID:6000 congestive heart failure ISO RGD:1601669 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12260493 MIR660 microRNA mir-660 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1601669 D RGD:9068941 20210730 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12260493 MIR660 microRNA mir-660 gene DOID:9008579 Dent Disease 1 ISO RGD:1601669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrolithiasis 2 PMID:15052463|PMID:7874126|PMID:9328929 12260496 MIR99B microRNA mir-99b gene DOID:0060071 pre-malignant neoplasm ISO RGD:1351824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12260496 MIR99B microRNA mir-99b gene DOID:6000 congestive heart failure ISO RGD:1351824 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12260496 MIR99B microRNA mir-99b gene DOID:9000965 Neoplasm Metastasis ISO RGD:1351824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 12260496 MIR99B microRNA mir-99b gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1351824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12260496 MIR99B microRNA mir-99b gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1351824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 12260496 MIR99B microRNA mir-99b gene DOID:9004610 Acute Lung Injury ISO RGD:1351824 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:33109608 12260496 MIR99B microRNA mir-99b gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1351824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22048643 12260519 LOC102155795 cancer/testis antigen 47A-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:2306145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12260519 LOC102155795 cancer/testis antigen 47A-like gene DOID:12849 autistic disorder ISO RGD:2306145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12260525 LOC102156046 protein S100-A15A-like gene DOID:0111940 immunodeficiency 42 ISO RGD:1346957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12260525 LOC102156046 protein S100-A15A-like gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1346957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12260525 LOC102156046 protein S100-A15A-like gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1346957 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12260525 LOC102156046 protein S100-A15A-like gene DOID:11612 polycystic ovary syndrome ISO RGD:1346957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12260525 LOC102156046 protein S100-A15A-like gene DOID:1540 parathyroid carcinoma ISO RGD:1346957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12260525 LOC102156046 protein S100-A15A-like gene DOID:5812 MHC class II deficiency ISO RGD:1346957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12260525 LOC102156046 protein S100-A15A-like gene DOID:630 genetic disease ISO RGD:1346957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260525 LOC102156046 protein S100-A15A-like gene DOID:8893 psoriasis ISO RGD:1321094 D RGD:9068941 20220825 MouseDO OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106 12260525 LOC102156046 protein S100-A15A-like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12260563 RIDA reactive intermediate imine deaminase A homolog gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:70940 D RGD:9068941 20200609 RGD PMID:23075396|REF_RGD_ID:9685568 12260563 RIDA reactive intermediate imine deaminase A homolog gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:70940 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:12939504|REF_RGD_ID:9685719 12260563 RIDA reactive intermediate imine deaminase A homolog gene DOID:9004590 Acute Liver Failure ISO RGD:1343199 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 12260573 POLR2B RNA polymerase II subunit B gene DOID:630 genetic disease ISO RGD:1319837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260573 POLR2B RNA polymerase II subunit B gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1319837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 12260602 SMAD4 SMAD family member 4 gene DOID:0050581 brachydactyly ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158539 12260602 SMAD4 SMAD family member 4 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1352527 D RGD:7240710 20180130 OMIM 12260602 SMAD4 SMAD family member 4 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1352527 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis syndrome | ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:11977156|PMID:12417513|PMID:12686552|PMID:12740389|PMID:12801888|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15314162|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17362581|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21421563|PMID:21465659|PMID:21515830|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22243968|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22585601|PMID:22683461|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24465805|PMID:24525918|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25326637|PMID:25373906|PMID:25502805|PMID:25523272|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26253951|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26636501|PMID:26681312|PMID:26689913|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27023170|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27562837|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28406602|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29955155|PMID:30210120|PMID:30251589|PMID:30256826|PMID:30267214|PMID:30374176|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31645765|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33745841|PMID:35307828|PMID:7296942|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 12260602 SMAD4 SMAD family member 4 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis syndrome | ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:11977156|PMID:12417513|PMID:12686552|PMID:12740389|PMID:12801888|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15314162|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17362581|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:19135894|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21421563|PMID:21465659|PMID:21515830|PMID:21572342|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22243968|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22585601|PMID:22683461|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:23805858|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24465805|PMID:24525918|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25373906|PMID:25502805|PMID:25523272|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26253951|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26636501|PMID:26681312|PMID:26689913|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27023170|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28406602|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28655553|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28827661|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29230941|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29773710|PMID:29955155|PMID:30210120|PMID:30251589|PMID:30256826|PMID:30267214|PMID:30374176|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30921096|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31645765|PMID:31654632|PMID:31684910|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32175297|PMID:32300199|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33745841|PMID:33824467|PMID:35307828|PMID:7296942|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9389648|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 12260602 SMAD4 SMAD family member 4 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1352527 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome | ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:11977156|PMID:12417513|PMID:12686552|PMID:12740389|PMID:12801888|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15314162|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17362581|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:19135894|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21421563|PMID:21465659|PMID:21515830|PMID:21572342|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22243968|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22585601|PMID:22683461|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:23805858|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24465805|PMID:24525918|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25373906|PMID:25502805|PMID:25523272|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26253951|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26636501|PMID:26681312|PMID:26689913|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27023170|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28406602|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28655553|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28827661|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29230941|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29773710|PMID:29955155|PMID:30210120|PMID:30251589|PMID:30256826|PMID:30267214|PMID:30374176|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30921096|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31645765|PMID:31654632|PMID:31684910|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32175297|PMID:32300199|PMID:32459922|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33097490|PMID:33745841|PMID:33824467|PMID:35307828|PMID:36194927|PMID:7296942|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9389648|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 12260602 SMAD4 SMAD family member 4 gene DOID:0050860 colorectal adenoma ISO RGD:1352527 D RGD:9068941 20200609 RGD mRNA:increased expression:mucosa PMID:11480790|REF_RGD_ID:21066339 12260602 SMAD4 SMAD family member 4 gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:24680176|REF_RGD_ID:12903951 12260602 SMAD4 SMAD family member 4 gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:1352527 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 PMID:25741868 12260602 SMAD4 SMAD family member 4 gene DOID:0080000 muscular disease ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158539 12260602 SMAD4 SMAD family member 4 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:1352527 D RGD:9068941 20200609 RGD PMID:26861460|REF_RGD_ID:21066335 12260602 SMAD4 SMAD family member 4 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1352527 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:29696816|REF_RGD_ID:18937002 12260602 SMAD4 SMAD family member 4 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:69092 D RGD:9068941 20200609 RGD PMID:29696816|REF_RGD_ID:18937002 12260602 SMAD4 SMAD family member 4 gene DOID:0111543 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome ISO RGD:1352527 D RGD:7240710 20180130 OMIM 12260602 SMAD4 SMAD family member 4 gene DOID:0111543 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome ISO RGD:1352527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI PMID:10398437|PMID:10441006|PMID:10479724|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:11977156|PMID:12116240|PMID:12417513|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15754356|PMID:16152648|PMID:16436638|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20301642|PMID:21465659|PMID:21515830|PMID:21835029|PMID:22158539|PMID:22243968|PMID:22316667|PMID:22331366|PMID:22585601|PMID:22683461|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22875147|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24465805|PMID:24580733|PMID:24715504|PMID:24841914|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26253951|PMID:26467025|PMID:26572829|PMID:26619011|PMID:26633542|PMID:26636501|PMID:26681312|PMID:26689913|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28283864|PMID:28406602|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28628100|PMID:28655553|PMID:28693246|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29230941|PMID:29634562|PMID:29684080|PMID:30210120|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30921096|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31684910|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32175297|PMID:32300199|PMID:32573726|PMID:32944796|PMID:33824467|PMID:36194927|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 12260602 SMAD4 SMAD family member 4 gene DOID:10534 stomach cancer ISO RGD:1352527 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:36988593 12260602 SMAD4 SMAD family member 4 gene DOID:1059 intellectual disability ISO RGD:1352527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:11977156|PMID:22158539|PMID:22243968|PMID:22585601|PMID:22683461|PMID:24398790|PMID:25741868|PMID:26636501|PMID:27302097|PMID:28406602|PMID:28492532|PMID:29230941|PMID:30921096|PMID:31837202|PMID:32175297|PMID:36194927 12260602 SMAD4 SMAD family member 4 gene DOID:11054 urinary bladder cancer ISO RGD:1352527 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:11783019|REF_RGD_ID:2299972 12260602 SMAD4 SMAD family member 4 gene DOID:1107 esophageal carcinoma ISO RGD:1352527 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12116240|PMID:12821112|PMID:14715079|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 12260602 SMAD4 SMAD family member 4 gene DOID:1107 esophageal carcinoma ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12116240|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 12260602 SMAD4 SMAD family member 4 gene DOID:12347 osteogenesis imperfecta ISO RGD:69092 D RGD:9068941 20220825 MouseDO 12260602 SMAD4 SMAD family member 4 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1352527 D RGD:9068941 20200609 RGD DNA:missense,frameshift, nonsense mutations:exons: PMID:16613914|REF_RGD_ID:11035218 12260602 SMAD4 SMAD family member 4 gene DOID:1324 lung cancer ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:21515830|PMID:24465805|PMID:26253951 12260602 SMAD4 SMAD family member 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10790223|PMID:15288293|PMID:21835029|PMID:22703879|PMID:23399955|PMID:24465802|PMID:24728327|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26580448|PMID:27146957|PMID:27153395|PMID:27443514|PMID:28196074|PMID:28492532|PMID:28726808|PMID:28873162|PMID:29069792|PMID:29212164|PMID:29743074|PMID:30426508|PMID:30719162|PMID:30842500|PMID:31159747|PMID:31758407|PMID:32066632|PMID:32068069|PMID:32573726|PMID:33745841 12260602 SMAD4 SMAD family member 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12686552|PMID:12740389|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22826269|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:23805858|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25252015|PMID:25318351|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28655553|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29955155|PMID:30210120|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33745841|PMID:33824467|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 12260602 SMAD4 SMAD family member 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1352527 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12686552|PMID:12740389|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17362581|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22826269|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:23805858|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25252015|PMID:25318351|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28655553|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29955155|PMID:30210120|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32459922|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33097490|PMID:33745841|PMID:33824467|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 12260602 SMAD4 SMAD family member 4 gene DOID:14654 prostatitis ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:20608350|REF_RGD_ID:12880046 12260602 SMAD4 SMAD family member 4 gene DOID:1520 colon carcinoma ISO RGD:1352527 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10398437|PMID:11920286|PMID:15235019|PMID:16152648|PMID:16436638|PMID:17873119|PMID:18355998|PMID:18823382|PMID:20301642|PMID:22316667|PMID:22748914|PMID:22810475|PMID:22875147|PMID:23239472|PMID:23399955|PMID:24033266|PMID:25741868|PMID:26171675|PMID:26467025|PMID:26681312|PMID:27375208|PMID:27613157|PMID:28492532|PMID:28944238|PMID:29634562|PMID:30210120|PMID:9582123 12260602 SMAD4 SMAD family member 4 gene DOID:1561 cognitive disorder ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158539 12260602 SMAD4 SMAD family member 4 gene DOID:1612 breast cancer ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:26467025|PMID:28492532 12260602 SMAD4 SMAD family member 4 gene DOID:1793 pancreatic cancer ISO RGD:1352527 D RGD:7240710 20180130 OMIM 12260602 SMAD4 SMAD family member 4 gene DOID:2154 nephroblastoma ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephroblastoma PMID:25741868|PMID:28492532 12260602 SMAD4 SMAD family member 4 gene DOID:219 colon cancer severity ISO RGD:1352527 D RGD:9068941 20220623 RGD mRNA:decreased expression:colon (human) PMID:31932471|REF_RGD_ID:152995462 12260602 SMAD4 SMAD family member 4 gene DOID:219 colon cancer treatment ISO RGD:3033 D RGD:9068941 20210611 RGD PMID:33360052|REF_RGD_ID:127229954 12260602 SMAD4 SMAD family member 4 gene DOID:2213 hemorrhagic disease ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 12260602 SMAD4 SMAD family member 4 gene DOID:2394 ovarian cancer ISO RGD:1352527 D RGD:9068941 20200609 RGD DNA:missense mutation PMID:10451707|REF_RGD_ID:2299976 12260602 SMAD4 SMAD family member 4 gene DOID:2394 ovarian cancer ISO RGD:1352527 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary PMID:16951150|REF_RGD_ID:2299979 12260602 SMAD4 SMAD family member 4 gene DOID:2526 prostate adenocarcinoma ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:12116240|PMID:15031030|PMID:26619011|PMID:6604412 12260602 SMAD4 SMAD family member 4 gene DOID:2671 transitional cell carcinoma ISO RGD:1352527 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:16859125|REF_RGD_ID:2299980 12260602 SMAD4 SMAD family member 4 gene DOID:2871 endometrial carcinoma ISO RGD:1352527 D RGD:9068941 20200609 RGD DNA:substitutions:promoter PMID:10331746|REF_RGD_ID:2300009 12260602 SMAD4 SMAD family member 4 gene DOID:2871 endometrial carcinoma severity ISO RGD:1352527 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium PMID:15385128|REF_RGD_ID:2299966 12260602 SMAD4 SMAD family member 4 gene DOID:3008 invasive ductal carcinoma ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20565773 12260602 SMAD4 SMAD family member 4 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:18375249|REF_RGD_ID:9999419 12260602 SMAD4 SMAD family member 4 gene DOID:3119 gastrointestinal system cancer ISO RGD:1352527 D RGD:9068941 20200609 RGD associated with Juvenile Polyposis Syndrome PMID:25389115|REF_RGD_ID:12880036 12260602 SMAD4 SMAD family member 4 gene DOID:3121 gallbladder cancer ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gallbladder cancer PMID:10479724|PMID:10764709|PMID:16152648|PMID:16436638|PMID:21465659|PMID:22810475|PMID:23239472|PMID:25931195|PMID:26689913|PMID:28492532 12260602 SMAD4 SMAD family member 4 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1352527 D RGD:9068941 20200609 RGD PMID:15173084|REF_RGD_ID:21066334 12260602 SMAD4 SMAD family member 4 gene DOID:3717 gastric adenocarcinoma ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12116240|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 12260602 SMAD4 SMAD family member 4 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:22558986|REF_RGD_ID:12880048 12260602 SMAD4 SMAD family member 4 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:3033 D RGD:9068941 20200609 RGD associated with Silicosis PMID:21941776|REF_RGD_ID:12880047 12260602 SMAD4 SMAD family member 4 gene DOID:3883 Lynch syndrome ISO RGD:1352527 D RGD:9068941 20200609 RGD PMID:10819637|REF_RGD_ID:1599900 12260602 SMAD4 SMAD family member 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1352527 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12116240|PMID:12821112|PMID:14715079|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:32300199|PMID:32573726|PMID:32944796|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 12260602 SMAD4 SMAD family member 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12116240|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 12260602 SMAD4 SMAD family member 4 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12116240|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 12260602 SMAD4 SMAD family member 4 gene DOID:4362 cervical cancer ISO RGD:1352527 D RGD:9068941 20200609 RGD mRNA:decreased expression:uterine cervix PMID:12894231|REF_RGD_ID:2299968 12260602 SMAD4 SMAD family member 4 gene DOID:4440 seminoma ISO RGD:1352527 D RGD:9068941 20200609 RGD DNA, protein:insertion, decreased expression:1521insT PMID:10706106|REF_RGD_ID:2299975 12260602 SMAD4 SMAD family member 4 gene DOID:4450 renal cell carcinoma severity ISO RGD:1352527 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:11332076|REF_RGD_ID:2299973 12260602 SMAD4 SMAD family member 4 gene DOID:4905 pancreatic carcinoma ISO RGD:1352527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:10398437|PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11920286|PMID:11977156|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16152648|PMID:16436638|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22158539|PMID:22243968|PMID:22316667|PMID:22331366|PMID:22585601|PMID:22683461|PMID:22748914|PMID:22810475|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24398790|PMID:24424121|PMID:24580733|PMID:24715504|PMID:24841914|PMID:25186627|PMID:25559809|PMID:25741868|PMID:25980754|PMID:26171675|PMID:26467025|PMID:26619011|PMID:26633542|PMID:26636501|PMID:26681312|PMID:26900293|PMID:26956206|PMID:27302097|PMID:27375208|PMID:27595937|PMID:27978560|PMID:28135145|PMID:28283864|PMID:28406602|PMID:28492532|PMID:28528518|PMID:28628100|PMID:28944238|PMID:29230941|PMID:29634562|PMID:29684080|PMID:30210120|PMID:30719162|PMID:30809044|PMID:30921096|PMID:30968316|PMID:31474762|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32175297|PMID:32300199|PMID:33824467|PMID:36194927|PMID:8653691|PMID:8898652|PMID:9582123|PMID:9679244|PMID:9811934 12260602 SMAD4 SMAD family member 4 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23525077|PMID:24952744 12260602 SMAD4 SMAD family member 4 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:1352527 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:intrahepatic bile duct PMID:16917866|REF_RGD_ID:18936999 12260602 SMAD4 SMAD family member 4 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1352527 D RGD:9068941 20200609 RGD PMID:23981608|REF_RGD_ID:21066336 12260602 SMAD4 SMAD family member 4 gene DOID:4947 cholangiocarcinoma ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 12260602 SMAD4 SMAD family member 4 gene DOID:520 aortic disease ISO RGD:1352527 D RGD:9068941 20200609 RGD associated with Juvenile Polyposis Syndrome PMID:25931195|REF_RGD_ID:11062588 12260602 SMAD4 SMAD family member 4 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 12260602 SMAD4 SMAD family member 4 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1352527 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer PMID:25741868 12260602 SMAD4 SMAD family member 4 gene DOID:5844 myocardial infarction treatment ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:11087260|REF_RGD_ID:12903276 12260602 SMAD4 SMAD family member 4 gene DOID:6225 Cronkhite-Canada syndrome ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal polyposis PMID:21835029|PMID:22703879|PMID:23399955|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25589618|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:27153395|PMID:27443514|PMID:28196074|PMID:28492532|PMID:30842500|PMID:32573726 12260602 SMAD4 SMAD family member 4 gene DOID:630 genetic disease ISO RGD:1352527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11977156|PMID:17576681|PMID:22158539|PMID:22243968|PMID:22585601|PMID:22683461|PMID:24033266|PMID:24398790|PMID:24424121|PMID:24580733|PMID:24715504|PMID:24841914|PMID:25741868|PMID:26633542|PMID:26636501|PMID:27302097|PMID:28406602|PMID:28492532|PMID:28628100|PMID:29230941|PMID:30921096|PMID:30968316|PMID:31474762|PMID:31595668|PMID:31654632|PMID:31837202|PMID:32175297|PMID:36194927|PMID:9536098 12260602 SMAD4 SMAD family member 4 gene DOID:6432 pulmonary hypertension ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:17347486|PMID:18367643|REF_RGD_ID:12903274|REF_RGD_ID:1643222 12260602 SMAD4 SMAD family member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1352527 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:22799322|REF_RGD_ID:21066341 12260602 SMAD4 SMAD family member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1352527 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:29924446|REF_RGD_ID:21066342 12260602 SMAD4 SMAD family member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:18971187|REF_RGD_ID:12880056 12260602 SMAD4 SMAD family member 4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352527 D RGD:9068941 20200609 RGD PMID:23922662|REF_RGD_ID:18182921 12260602 SMAD4 SMAD family member 4 gene DOID:8552 chronic myeloid leukemia ISO RGD:1352527 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood PMID:29951173|REF_RGD_ID:13782079 12260602 SMAD4 SMAD family member 4 gene DOID:8634 prostate carcinoma in situ ISO RGD:1352527 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:15017584|REF_RGD_ID:2300005 12260602 SMAD4 SMAD family member 4 gene DOID:8725 vascular dementia ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:28492532|PMID:35307828 12260602 SMAD4 SMAD family member 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1352527 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:11809701|REF_RGD_ID:2300007 12260602 SMAD4 SMAD family member 4 gene DOID:9000099 Experimental Colitis susceptibility ISO RGD:69092 D RGD:9068941 20200609 RGD PMID:23090737|REF_RGD_ID:12880038 12260602 SMAD4 SMAD family member 4 gene DOID:9000217 Stomach Neoplasms ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21105199 12260602 SMAD4 SMAD family member 4 gene DOID:9000838 Growth Mental Deficiency Syndrome of Myhre ISO RGD:1352527 D RGD:7240710 20180130 OMIM 12260602 SMAD4 SMAD family member 4 gene DOID:9000838 Growth Mental Deficiency Syndrome of Myhre ISO RGD:1352527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Myhre syndrome PMID:10398437|PMID:10479724|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:11274206|PMID:11782434|PMID:11920286|PMID:11977156|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:16152648|PMID:16436638|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20301642|PMID:21153778|PMID:21515830|PMID:21835029|PMID:22158539|PMID:22243968|PMID:22316667|PMID:22331366|PMID:22585601|PMID:22683461|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22843233|PMID:22875147|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24465805|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24841914|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25980754|PMID:26171675|PMID:26253951|PMID:26467025|PMID:26619011|PMID:26633542|PMID:26636501|PMID:26681312|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28283864|PMID:28406602|PMID:28492532|PMID:28528518|PMID:28628100|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29230941|PMID:29634562|PMID:29684080|PMID:30210120|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30921096|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32175297|PMID:32300199|PMID:32573726|PMID:33824467|PMID:36194927|PMID:7296942|PMID:8898652|PMID:9582123|PMID:9679244|PMID:9811934 12260602 SMAD4 SMAD family member 4 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1352527 D RGD:9068941 20200609 RGD associated with colorectal carcinoma;DNA:mutation:cds: PMID:10340381|REF_RGD_ID:21066333 12260602 SMAD4 SMAD family member 4 gene DOID:9001402 Acro-Osteolysis ISO RGD:1352527 D RGD:9068941 20200609 RGD associated with Juvenile Polyposis Syndrome;DNA:nonsense mutation:exon:p.Y412X (1236C>G) (human) PMID:15990641|REF_RGD_ID:12880041 12260602 SMAD4 SMAD family member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16570350 12260602 SMAD4 SMAD family member 4 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:19824107|REF_RGD_ID:12903949 12260602 SMAD4 SMAD family member 4 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1352527 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25559809|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29684080 12260602 SMAD4 SMAD family member 4 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:3033 D RGD:9068941 20200609 RGD mRNA:increased expression:hypoglossal nucleus PMID:17166487|REF_RGD_ID:1643227 12260602 SMAD4 SMAD family member 4 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1352527 D RGD:9068941 20200609 RGD PMID:15042598|REF_RGD_ID:2299981 12260602 SMAD4 SMAD family member 4 gene DOID:9002350 Hereditary Hemorrhagic Telangiectasia, Type 1 ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 12260602 SMAD4 SMAD family member 4 gene DOID:9002504 Odontogenic Cysts ISO RGD:69092 D RGD:9068941 20200609 RGD PMID:19703995|REF_RGD_ID:12880040 12260602 SMAD4 SMAD family member 4 gene DOID:9003155 Parasitic Liver Diseases ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 12260602 SMAD4 SMAD family member 4 gene DOID:9003295 Heterotopic Ossification ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:19940863|REF_RGD_ID:12880052 12260602 SMAD4 SMAD family member 4 gene DOID:9003342 Microphthalmia, Cataracts, and Iris Abnormalities ISO RGD:69092 D RGD:9068941 20200609 RGD PMID:20735985|REF_RGD_ID:12880033 12260602 SMAD4 SMAD family member 4 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1352527 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12821112|PMID:14715079|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 12260602 SMAD4 SMAD family member 4 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 12260602 SMAD4 SMAD family member 4 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1352527 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:29924446|REF_RGD_ID:21066342 12260602 SMAD4 SMAD family member 4 gene DOID:9004739 Cicatrix treatment ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:21255090|REF_RGD_ID:12880045 12260602 SMAD4 SMAD family member 4 gene DOID:9006113 Gallstones ISO RGD:1352527 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:intrahepatic bile duct PMID:16917866|REF_RGD_ID:18936999 12260602 SMAD4 SMAD family member 4 gene DOID:9006618 Liver Metastasis ISO RGD:1352527 D RGD:9068941 20200609 RGD associated with colorectal carcinoma;protein:decreased expression:colorectum: PMID:17390050|REF_RGD_ID:21066338 12260602 SMAD4 SMAD family member 4 gene DOID:9006618 Liver Metastasis treatment ISO RGD:1352527 D RGD:9068941 20200609 RGD associated with colorectal carcinoma; DNA:mutations: : PMID:29551247|REF_RGD_ID:18937000 12260602 SMAD4 SMAD family member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352527 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12417513|PMID:12821112|PMID:14715079|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15754356|PMID:16152648|PMID:16436638|PMID:16613914|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22316667|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25326637|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28628100|PMID:28655553|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29684080|PMID:29743074|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33745841|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 12260602 SMAD4 SMAD family member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352527 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12417513|PMID:12821112|PMID:14715079|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15754356|PMID:16152648|PMID:16436638|PMID:16613914|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22316667|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28628100|PMID:28655553|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29684080|PMID:29743074|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33745841|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 12260602 SMAD4 SMAD family member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352527 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12417513|PMID:12686552|PMID:12740389|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22316667|PMID:22561520|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22826269|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25252015|PMID:25318351|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29955155|PMID:30210120|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33745841|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 12260602 SMAD4 SMAD family member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352527 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12417513|PMID:12686552|PMID:12740389|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22316667|PMID:22561520|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22826269|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25252015|PMID:25318351|PMID:25326637|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29955155|PMID:30210120|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33745841|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 12260602 SMAD4 SMAD family member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352527 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12417513|PMID:12686552|PMID:12740389|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17362581|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22826269|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:23805858|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25252015|PMID:25318351|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28655553|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29955155|PMID:30210120|PMID:30251589|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32459922|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33097490|PMID:33745841|PMID:33824467|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 12260602 SMAD4 SMAD family member 4 gene DOID:9007329 Human Viral Hepatitis ISO RGD:1352527 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma; protein:altered expression:liver PMID:22799322|REF_RGD_ID:21066341 12260602 SMAD4 SMAD family member 4 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:22913380|REF_RGD_ID:12903950 12260602 SMAD4 SMAD family member 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12116240|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 12260602 SMAD4 SMAD family member 4 gene DOID:9008681 Deafness ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158539 12260602 SMAD4 SMAD family member 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158539 12260602 SMAD4 SMAD family member 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:32300199|PMID:32573726|PMID:32944796|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 12260602 SMAD4 SMAD family member 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1352527 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12821112|PMID:14715079|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 12260602 SMAD4 SMAD family member 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 12260602 SMAD4 SMAD family member 4 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:21898662|PMID:24728327|PMID:25502805|PMID:25741868|PMID:26387786|PMID:28492532|PMID:31515488 12260602 SMAD4 SMAD family member 4 gene DOID:9256 colorectal cancer ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 12260602 SMAD4 SMAD family member 4 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:25017203|REF_RGD_ID:12880049 12260633 CLDN18 claudin 18 gene DOID:11372 megacolon ISO RGD:1351425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12260633 CLDN18 claudin 18 gene DOID:2841 asthma ISO RGD:1351425 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:27215490 12260633 CLDN18 claudin 18 gene DOID:630 genetic disease ISO RGD:1351425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260644 TOMM70 translocase of outer mitochondrial membrane 70 gene DOID:1459 hypothyroidism ISO RGD:1303049 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum PMID:10582581|REF_RGD_ID:11522362 12260644 TOMM70 translocase of outer mitochondrial membrane 70 gene DOID:6000 congestive heart failure ISO RGD:1303049 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:heart, mitochondrion PMID:24395194|REF_RGD_ID:13464132 12260644 TOMM70 translocase of outer mitochondrial membrane 70 gene DOID:6000 congestive heart failure ISO RGD:1343038 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:25022898|REF_RGD_ID:13464131 12260644 TOMM70 translocase of outer mitochondrial membrane 70 gene DOID:630 genetic disease ISO RGD:1343038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260644 TOMM70 translocase of outer mitochondrial membrane 70 gene DOID:9003936 Cardiomegaly ISO RGD:1303049 D RGD:9068941 20200609 RGD protein:decreased expression:left ventricle myocardium PMID:25022898|REF_RGD_ID:13464131 12260644 TOMM70 translocase of outer mitochondrial membrane 70 gene DOID:9003936 Cardiomegaly ISO RGD:1551718 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:25022898|REF_RGD_ID:13464131 12260644 TOMM70 translocase of outer mitochondrial membrane 70 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1303049 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:23255365|REF_RGD_ID:13463486 12260663 P4HA1 prolyl 4-hydroxylase subunit alpha 1 gene DOID:630 genetic disease ISO RGD:731788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260688 MYH10 myosin heavy chain 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1353980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12260688 MYH10 myosin heavy chain 10 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1353980 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9678433 12260688 MYH10 myosin heavy chain 10 gene DOID:630 genetic disease ISO RGD:1353980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260688 MYH10 myosin heavy chain 10 gene DOID:9003133 Hypertelorism ISO RGD:1353980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism 12260688 MYH10 myosin heavy chain 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12260688 MYH10 myosin heavy chain 10 gene DOID:9008086 Developmental Disabilities ISO RGD:1353980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12260688 MYH10 myosin heavy chain 10 gene DOID:9970 obesity ISO RGD:1353980 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:0050861 colorectal adenocarcinoma severity ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:16507107|REF_RGD_ID:126781766 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:19691460|REF_RGD_ID:126781771 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:0060074 ductal carcinoma in situ ISO RGD:733426 D RGD:9068941 20200609 RGD PMID:9470844|REF_RGD_ID:2289952 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:0060560 lethal congenital contracture syndrome 2 ISO RGD:733426 D RGD:7240710 20180130 OMIM 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:0060560 lethal congenital contracture syndrome 2 ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 2 PMID:17701904|PMID:25741868 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:733426 D RGD:9068941 20221020 CTD CTD Direct Evidence: marker/mechanism 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:0080679 neuronal intestinal dysplasia type A ISO RGD:733426 D RGD:7240710 20210818 OMIM 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:0080679 neuronal intestinal dysplasia type A ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral neuropathy, familial, 1, autosomal recessive PMID:25741868|PMID:33497358 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:10283 prostate cancer ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:733426 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:17532856|REF_RGD_ID:2289946 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:733426 D RGD:9068941 20200609 RGD PMID:16685269|REF_RGD_ID:2298502 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:14566 disease of cellular proliferation ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:23680147 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:2671 transitional cell carcinoma ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:22549618|REF_RGD_ID:126790474 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69323 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:17908459|REF_RGD_ID:2289953 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:363 uterine cancer ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26619011 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:3717 gastric adenocarcinoma ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:26619011 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:11789762|REF_RGD_ID:126790479 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:20364069|REF_RGD_ID:126790478 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:26824984|REF_RGD_ID:126790475 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:4948 gallbladder carcinoma ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of gallbladder PMID:26619011 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:5517 stomach carcinoma disease_progression ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:21709195|REF_RGD_ID:126781768 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:571 median neuropathy ISO RGD:69323 D RGD:9068941 20210423 RGD PMID:18845940|PMID:19296522|REF_RGD_ID:10449020|REF_RGD_ID:126790486 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:6171 uterine carcinosarcoma ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:26619011 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:630 genetic disease ISO RGD:733426 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:11355950|REF_RGD_ID:126781769 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:733426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24997986 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:24997986|REF_RGD_ID:126781772 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:69323 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:11797086|REF_RGD_ID:2289967 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:733426 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:increased expression, altered localization:lymph node, nucleus PMID:17634423|REF_RGD_ID:2289944 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:733426 D RGD:9068941 20210423 RGD associated with head and neck squamous cell carcinoma PMID:20604875|REF_RGD_ID:126790467 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:23680147 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000473 Familial Visceral Neuropathy ISO RGD:733426 D RGD:8554872 20221018 ClinVar ClinVar Annotator: match by term: Visceral neuropathy, familial PMID:25741868 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000918 Disease Progression ISO RGD:733426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21638049 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733426 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:alternative form PMID:18559590|REF_RGD_ID:2298500 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733426 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:increased expression, altered localization:bone, nucleus PMID:17634423|REF_RGD_ID:2289944 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:733426 D RGD:9068941 20210423 RGD associated with lung adenocarcinoma PMID:26254096|REF_RGD_ID:126790470 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17634423 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9002498 Wallerian Degeneration ISO RGD:69323 D RGD:9068941 20200609 RGD PMID:9030624|REF_RGD_ID:68774 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733426 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary PMID:18575766|REF_RGD_ID:2298499 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:733426 D RGD:9068941 20200609 RGD PMID:16896008|REF_RGD_ID:2298501 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9002801 Recurrence ISO RGD:733426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21638049 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9002928 Colonic Neoplasms ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:23680147 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:26619011 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:733426 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17465227|REF_RGD_ID:2289947 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9004240 Phyllodes Tumor disease_progression ISO RGD:733426 D RGD:9068941 20200609 RGD PMID:11206334|REF_RGD_ID:2289951 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:733426 D RGD:9068941 20200609 RGD PMID:16962163|REF_RGD_ID:2289950 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9005172 Lung Neoplasms ISO RGD:733426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12483526 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733426 D RGD:9068941 20200609 RGD PMID:17203220|REF_RGD_ID:2289979 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9007364 Mouth Neoplasms ISO RGD:69323 D RGD:9068941 20200609 RGD protein:increased expression:oral epithelium PMID:17704947|REF_RGD_ID:2289941 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:733426 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:10537356|REF_RGD_ID:2298505 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9008420 Familial Erythroleukemia ISO RGD:733426 D RGD:7240710 20230505 OMIM 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9008420 Familial Erythroleukemia ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DI GUGLIELMO DISEASE, FAMILIAL PMID:27416908 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:26619011 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9008939 Breast Neoplasms ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:26619011 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:733426 D RGD:9068941 20200609 RGD DNA:amplification PMID:18182100|REF_RGD_ID:2289942 12260744 ERBB3 erb-b2 receptor tyrosine kinase 3 gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:24825912|REF_RGD_ID:126781774 12260776 IGFBPL1 insulin like growth factor binding protein like 1 gene DOID:630 genetic disease ISO RGD:1313812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260785 ISG20 interferon stimulated exonuclease gene 20 gene DOID:2717 Bloom syndrome ISO RGD:1315002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12260785 ISG20 interferon stimulated exonuclease gene 20 gene DOID:630 genetic disease ISO RGD:1315002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260785 ISG20 interferon stimulated exonuclease gene 20 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12260785 ISG20 interferon stimulated exonuclease gene 20 gene DOID:9256 colorectal cancer ISO RGD:1315002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12260793 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:0050567 orofacial cleft ISO RGD:1313743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Facial cleft PMID:25741868 12260793 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1313743 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12260793 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:0112368 Coffin-Siris syndrome 5 ISO RGD:1313743 D RGD:7240710 20190315 OMIM 12260793 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:0112368 Coffin-Siris syndrome 5 ISO RGD:1313743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 5 PMID:22426308|PMID:23906836|PMID:25741868|PMID:28492532 12260793 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:1059 intellectual disability ISO RGD:1313743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12260793 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:1925 Coffin-Siris syndrome ISO RGD:1313743 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:22426308 12260793 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:3565 meningioma ISO RGD:1313743 D RGD:9068941 20220414 RGD DNA:multiple:multiple (human) PMID:29409008|REF_RGD_ID:151708704 12260793 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:3565 meningioma ISO RGD:1313743 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35681054 12260793 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:4586 familial meningioma ISO RGD:1313743 D RGD:7240710 20230505 OMIM 12260793 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:4586 familial meningioma ISO RGD:1313743 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial meningioma PMID:16199547|PMID:17576681|PMID:22426308|PMID:23377182|PMID:25169753|PMID:25741868|PMID:26803492|PMID:27891692|PMID:28492532|PMID:29625052|PMID:30209809|PMID:9536098 12260793 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:630 genetic disease ISO RGD:1313743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12260793 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:23377182|PMID:25169753|PMID:25741868|PMID:28166811|PMID:28492532 12260793 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313743 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:23377182|PMID:25169753|PMID:25741868|PMID:28492532|PMID:29625052 12260793 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313743 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:23377182|PMID:25169753|PMID:25741868|PMID:26803492|PMID:28492532|PMID:29625052|PMID:30209809|PMID:9536098 12260793 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313743 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:23377182|PMID:25169753|PMID:25741868|PMID:26803492|PMID:27891692|PMID:28492532|PMID:29625052|PMID:30209809|PMID:9536098 12260812 GNAO1 G protein subunit alpha o1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:23993195|PMID:25356970|PMID:25363768|PMID:25533962|PMID:25741868|PMID:25944380|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26485252|PMID:26795593|PMID:27068059|PMID:27072799|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28135719|PMID:28191890|PMID:28202424|PMID:28357411|PMID:28492532|PMID:28628939|PMID:28688840|PMID:28747448|PMID:28817111|PMID:29390993|PMID:29761117|PMID:30682224|PMID:31406558|PMID:32581362|PMID:33298085|PMID:9536098 12260812 GNAO1 G protein subunit alpha o1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731076 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:23993195|PMID:25356970|PMID:25363768|PMID:25533962|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26485252|PMID:26795593|PMID:27068059|PMID:27072799|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28135719|PMID:28191890|PMID:28202424|PMID:28357411|PMID:28492532|PMID:28628939|PMID:28688840|PMID:28747448|PMID:28817111|PMID:29390993|PMID:29761117|PMID:30682224|PMID:31406558|PMID:32581362|PMID:33298085|PMID:9536098 12260812 GNAO1 G protein subunit alpha o1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:16199547|PMID:17576681|PMID:18434540|PMID:23993195|PMID:25356970|PMID:25363768|PMID:25533962|PMID:25590979|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26485252|PMID:26595808|PMID:26633542|PMID:26795593|PMID:27068059|PMID:27072799|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28135719|PMID:28191890|PMID:28202424|PMID:28357411|PMID:28492532|PMID:28628939|PMID:28668776|PMID:28688840|PMID:28714951|PMID:28747448|PMID:28817111|PMID:29389947|PMID:29390993|PMID:29761117|PMID:29935962|PMID:30642806|PMID:30682224|PMID:31130284|PMID:31394400|PMID:31406558|PMID:31737037|PMID:31780880|PMID:32581362|PMID:32898863|PMID:33298085|PMID:34122306|PMID:35509770|PMID:35722775|PMID:35782616|PMID:8521505|PMID:9108480|PMID:9536098 12260812 GNAO1 G protein subunit alpha o1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731076 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:16199547|PMID:17576681|PMID:18434540|PMID:20177705|PMID:23993195|PMID:24608809|PMID:25356970|PMID:25363768|PMID:25533962|PMID:25590979|PMID:25640679|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26485252|PMID:26518167|PMID:26595808|PMID:26633542|PMID:26795593|PMID:27068059|PMID:27072799|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28135719|PMID:28191890|PMID:28202424|PMID:28357411|PMID:28492532|PMID:28628939|PMID:28668776|PMID:28688840|PMID:28714951|PMID:28747448|PMID:28817111|PMID:29389947|PMID:29390993|PMID:29761117|PMID:29935962|PMID:30642806|PMID:30682224|PMID:30866059|PMID:31130284|PMID:31394400|PMID:31406558|PMID:31737037|PMID:31780880|PMID:32581362|PMID:32898863|PMID:33298085|PMID:34122306|PMID:35509770|PMID:35722775|PMID:35782616|PMID:8521505|PMID:9108480|PMID:9536098 12260812 GNAO1 G protein subunit alpha o1 gene DOID:0060001 withdrawal disorder ISO RGD:731076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12199159 12260812 GNAO1 G protein subunit alpha o1 gene DOID:0080450 developmental and epileptic encephalopathy 17 ISO RGD:731076 D RGD:7240710 20180130 OMIM 12260812 GNAO1 G protein subunit alpha o1 gene DOID:0080450 developmental and epileptic encephalopathy 17 ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 17 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 17 PMID:17576681|PMID:18414213|PMID:23993195|PMID:25356970|PMID:25533962|PMID:25590979|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26485252|PMID:26633542|PMID:26795593|PMID:27068059|PMID:27072799|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28202424|PMID:28357411|PMID:28492532|PMID:28503590|PMID:28628939|PMID:28668776|PMID:28688840|PMID:28747448|PMID:28817111|PMID:29389947|PMID:29761117|PMID:29935962|PMID:29961512|PMID:30642806|PMID:30682224|PMID:31130284|PMID:31406558|PMID:31737037|PMID:31780880|PMID:32581362|PMID:33298085|PMID:34122306|PMID:35509770|PMID:35722775|PMID:35782616|PMID:9536098 12260812 GNAO1 G protein subunit alpha o1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:731076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 12260812 GNAO1 G protein subunit alpha o1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731076 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:16199547|PMID:17576681|PMID:18434540|PMID:20177705|PMID:23993195|PMID:24608809|PMID:25356970|PMID:25363768|PMID:25533962|PMID:25590979|PMID:25640679|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26485252|PMID:26518167|PMID:26595808|PMID:26633542|PMID:26795593|PMID:27068059|PMID:27072799|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28135719|PMID:28191890|PMID:28202424|PMID:28357411|PMID:28492532|PMID:28628939|PMID:28668776|PMID:28688840|PMID:28714951|PMID:28747448|PMID:28817111|PMID:29389947|PMID:29390993|PMID:29761117|PMID:29935962|PMID:30642806|PMID:30682224|PMID:30866059|PMID:31130284|PMID:31394400|PMID:31406558|PMID:31737037|PMID:31780880|PMID:32581362|PMID:32898863|PMID:33298085|PMID:34122306|PMID:35509770|PMID:35722775|PMID:35782616|PMID:8521505|PMID:9108480|PMID:9536098 12260812 GNAO1 G protein subunit alpha o1 gene DOID:0112276 neurodevelopmental disorder with involuntary movements ISO RGD:731076 D RGD:7240710 20190315 OMIM 12260812 GNAO1 G protein subunit alpha o1 gene DOID:0112276 neurodevelopmental disorder with involuntary movements ISO RGD:731076 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with involuntary movements PMID:23993195|PMID:25356970|PMID:25533962|PMID:25590979|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27068059|PMID:27072799|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28202424|PMID:28357411|PMID:28492532|PMID:28628939|PMID:28668776|PMID:28688840|PMID:28747448|PMID:29389947|PMID:29761117|PMID:29935962|PMID:30642806|PMID:31130284|PMID:31406558|PMID:31737037|PMID:31780880|PMID:32581362|PMID:33298085|PMID:34122306|PMID:35509770|PMID:35722775|PMID:35782616 12260812 GNAO1 G protein subunit alpha o1 gene DOID:1059 intellectual disability ISO RGD:731076 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26595808|PMID:28492532 12260812 GNAO1 G protein subunit alpha o1 gene DOID:10907 microcephaly ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:23993195|PMID:25741868|PMID:25966631|PMID:26060304|PMID:27072799|PMID:28202424|PMID:28492532|PMID:28628939|PMID:28747448 12260812 GNAO1 G protein subunit alpha o1 gene DOID:12859 choreatic disease ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Choreatic disease PMID:25741868|PMID:28492532|PMID:28668776|PMID:29389947|PMID:29935962|PMID:30642806|PMID:31130284|PMID:31737037|PMID:31780880|PMID:32581362 12260812 GNAO1 G protein subunit alpha o1 gene DOID:1826 epilepsy ISO RGD:731076 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12260812 GNAO1 G protein subunit alpha o1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:731076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12260812 GNAO1 G protein subunit alpha o1 gene DOID:480 movement disease ISO RGD:731076 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Movement disorder PMID:23993195|PMID:25533962|PMID:25741868|PMID:25966631|PMID:26060304|PMID:27068059|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28357411|PMID:28492532|PMID:28688840|PMID:32581362 12260812 GNAO1 G protein subunit alpha o1 gene DOID:630 genetic disease ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15313569|PMID:16199547|PMID:18434540|PMID:23993195|PMID:24700286|PMID:25356970|PMID:25533962|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26485252|PMID:26595808|PMID:26633542|PMID:26795593|PMID:27068059|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28135719|PMID:28191890|PMID:28357411|PMID:28492532|PMID:28628939|PMID:28688840|PMID:28747448|PMID:29761117|PMID:30682224|PMID:31130284|PMID:31406558|PMID:32581362|PMID:33298085|PMID:34122306|PMID:35509770|PMID:35722775|PMID:35782616|PMID:8521505|PMID:9108480 12260812 GNAO1 G protein subunit alpha o1 gene DOID:684 hepatocellular carcinoma ISO RGD:731076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12260812 GNAO1 G protein subunit alpha o1 gene DOID:9001793 Generalized Epilepsy ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:17576681|PMID:25741868|PMID:26485252|PMID:28357411|PMID:28492532|PMID:28747448|PMID:28817111|PMID:30682224|PMID:32581362|PMID:9536098 12260812 GNAO1 G protein subunit alpha o1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 12260812 GNAO1 G protein subunit alpha o1 gene DOID:9006534 Nervous System Malformations ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:23993195|PMID:25356970|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26795593|PMID:27068059|PMID:27072799|PMID:28202424|PMID:28492532|PMID:28628939|PMID:28688840|PMID:28747448|PMID:29761117|PMID:31406558|PMID:33298085 12260812 GNAO1 G protein subunit alpha o1 gene DOID:9008086 Developmental Disabilities ISO RGD:731076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:25356970|PMID:25741868|PMID:25966631|PMID:26795593|PMID:27068059|PMID:28492532|PMID:28628939|PMID:28688840|PMID:28747448|PMID:29761117|PMID:31406558|PMID:33298085 12260812 GNAO1 G protein subunit alpha o1 gene DOID:9008675 Dyskinesias ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskinesia PMID:25741868|PMID:28492532|PMID:28668776|PMID:29389947|PMID:29935962|PMID:30642806|PMID:31130284|PMID:31737037|PMID:31780880|PMID:32581362 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:736238 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:25186627|PMID:25741868|PMID:26315354|PMID:26467025|PMID:27443514|PMID:28492532|PMID:29596542|PMID:32268276|PMID:33118316|PMID:33471991 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:10534 stomach cancer ISO RGD:736238 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:16199547|PMID:20077502|PMID:21344236|PMID:23334666|PMID:25741868|PMID:26010302|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26720728|PMID:27009842|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29367421|PMID:29922827|PMID:31036035|PMID:31371347|PMID:31843900|PMID:32566746|PMID:32832836|PMID:33471991|PMID:33498765|PMID:34196900|PMID:36988593 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:1324 lung cancer ISO RGD:736238 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:20077502|PMID:25741868|PMID:26467025|PMID:26738429|PMID:28492532 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:1520 colon carcinoma ISO RGD:736238 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:20077502|PMID:25741868|PMID:26350354|PMID:26467025|PMID:26738429|PMID:28135145|PMID:28492532|PMID:31371347 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer ISO RGD:736238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11807980|PMID:14550946|PMID:15342711|PMID:15855157|PMID:16061562|PMID:16333312|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24123366|PMID:24454733|PMID:25186627|PMID:25288723|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26786923|PMID:26787654|PMID:26898890|PMID:26976419|PMID:26979391|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27443514|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28301456|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28873162|PMID:28888541|PMID:29292755|PMID:29596542|PMID:29625052|PMID:29785153|PMID:29858377|PMID:29905759|PMID:29922827|PMID:30067863|PMID:30374176|PMID:30925164|PMID:30982232|PMID:31036035|PMID:31371347|PMID:31666926|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:34754157|PMID:9425226|PMID:9536098 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer ISO RGD:736238 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11807980|PMID:14550946|PMID:15342711|PMID:15855157|PMID:16061562|PMID:16333312|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24123366|PMID:24454733|PMID:25186627|PMID:25288723|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27443514|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28301456|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28873162|PMID:28888541|PMID:29292755|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29785153|PMID:29858377|PMID:29905759|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30374176|PMID:30781715|PMID:30925164|PMID:30982232|PMID:31036035|PMID:31371347|PMID:31666926|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:34196900|PMID:34754157|PMID:34906988|PMID:36988593|PMID:9425226|PMID:9536098 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer no_association ISO RGD:736238 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.C557S (human) PMID:17333333|REF_RGD_ID:2315714 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer no_association ISO RGD:736238 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:17972171|REF_RGD_ID:2315715 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer no_association ISO RGD:736238 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.V507M, p.C557S (human) PMID:16333312|REF_RGD_ID:2315717 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer severity ISO RGD:736238 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:breast PMID:16152612|REF_RGD_ID:2315727 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer susceptibility ISO RGD:736238 D RGD:7240710 20230505 OMIM 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:1781 thyroid gland cancer ISO RGD:736238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thyroid cancer PMID:25186627|PMID:25741868|PMID:26315354|PMID:26787654|PMID:26976419|PMID:28492532 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:2394 ovarian cancer ISO RGD:736238 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:15855157|PMID:19139070|PMID:23056176|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26010302|PMID:26350354|PMID:26467025|PMID:26757417|PMID:26787654|PMID:27498913|PMID:28051113|PMID:28492532|PMID:28912018|PMID:29905759|PMID:30093976|PMID:30925164|PMID:30982232|PMID:31036035|PMID:31666926|PMID:31871109|PMID:32008151|PMID:32068069|PMID:32566746|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33646313|PMID:34754157|PMID:35402282 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:2871 endometrial carcinoma ISO RGD:736238 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:20077502|PMID:21344236|PMID:25330149|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26315354|PMID:26329992|PMID:26467025|PMID:26681312|PMID:26689913|PMID:27153395|PMID:27443514|PMID:28008555|PMID:28492532|PMID:29625052|PMID:30947698|PMID:31036035|PMID:32295079|PMID:33471991 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:3204 neurilemmomatosis ISO RGD:736238 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Schwannomatosis 2 PMID:25741868|PMID:26315354|PMID:26467025|PMID:27443514|PMID:28492532|PMID:28717660|PMID:30925164|PMID:32980694|PMID:33471991 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:3459 breast carcinoma ISO RGD:736238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:16199547|PMID:20077502|PMID:21344236|PMID:25741868|PMID:28492532|PMID:28724667|PMID:31036035|PMID:32658311|PMID:32832836 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:736238 D RGD:9068941 20210604 RGD PMID:21815143|REF_RGD_ID:127229947 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:12832489|PMID:15855157|PMID:16199547|PMID:17550235|PMID:17848578|PMID:19139070|PMID:20077502|PMID:21344236|PMID:22006311|PMID:23056176|PMID:23334666|PMID:25186627|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26720728|PMID:26738429|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27443514|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29292755|PMID:29700634|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:32295079|PMID:32566746|PMID:32832836 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29292755|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32295079|PMID:32566746|PMID:32726901|PMID:32832836|PMID:33471991|PMID:33552952|PMID:9425226 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29292755|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32295079|PMID:32566746|PMID:32726901|PMID:32832836|PMID:33471991|PMID:33552952|PMID:9425226 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29292755|PMID:29625052|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32295079|PMID:32566746|PMID:32726901|PMID:32832836|PMID:32980694|PMID:33471991|PMID:33498765|PMID:33552952|PMID:34034685|PMID:9425226 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29625052|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32726901|PMID:32832836|PMID:32980694|PMID:33471991|PMID:33498765|PMID:33552952|PMID:34034685|PMID:9425226 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34250417|PMID:34754157|PMID:9425226 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34250417|PMID:34754157|PMID:9425226 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34250417|PMID:34754157|PMID:9425226 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34754157|PMID:9425226 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34754157|PMID:36988593|PMID:9425226 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:630 genetic disease ISO RGD:736238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:687 hepatoblastoma ISO RGD:736238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:26580448|PMID:28492532 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:769 neuroblastoma ISO RGD:736238 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19412175|PMID:23334666 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:736238 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma PMID:25741868|PMID:26315354|PMID:26467025|PMID:26787654|PMID:28135145|PMID:28492532|PMID:30925164|PMID:31371347|PMID:32068069|PMID:33471991 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:2007750|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30680046|PMID:30804502|PMID:30925164|PMID:31036035|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32658311|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32980694|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33692861|PMID:34034685|PMID:34102105|PMID:34359559|PMID:34906988|PMID:9425226|PMID:9536098 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:2007750|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30804502|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:33646313|PMID:33692861|PMID:34034685|PMID:34102105|PMID:34250417|PMID:34359559|PMID:34754157|PMID:34906988|PMID:35402282|PMID:9425226|PMID:9536098 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:33646313|PMID:33692861|PMID:34034685|PMID:34102105|PMID:34196900|PMID:34250417|PMID:34359559|PMID:34754157|PMID:34906988|PMID:35402282|PMID:36187937|PMID:9425226|PMID:9536098 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26076356|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29025590|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:33621668|PMID:33646313|PMID:33692861|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34196900|PMID:34250417|PMID:34359559|PMID:34754157|PMID:34906988|PMID:35264596|PMID:35402282|PMID:35595798|PMID:36187937|PMID:36988593|PMID:9425226|PMID:9536098 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:20077502|PMID:21344236|PMID:25741868|PMID:26315354|PMID:26467025|PMID:28492532|PMID:29566657|PMID:30925164 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:736238 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:11807980|PMID:12832489|PMID:14550946|PMID:14560035|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:19763152|PMID:20030863|PMID:20077502|PMID:20307669|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:22406018|PMID:22927429|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24302565|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25640679|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26022179|PMID:26075229|PMID:26076356|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29180619|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29566657|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:33646313|PMID:33692861|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34196900|PMID:34250417|PMID:34321665|PMID:34359559|PMID:34754157|PMID:34789768|PMID:34906988|PMID:35264596|PMID:35402282|PMID:35595798|PMID:36187937|PMID:36988593|PMID:9425226|PMID:9536098 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:936 brain disease ISO RGD:736238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868 12260831 BARD1 BRCA1 associated RING domain 1 gene DOID:9538 multiple myeloma ISO RGD:736238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12260847 SLC13A4 solute carrier family 13 member 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1345589 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12260847 SLC13A4 solute carrier family 13 member 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12260847 SLC13A4 solute carrier family 13 member 4 gene DOID:5082 liver cirrhosis ISO RGD:1345589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12260847 SLC13A4 solute carrier family 13 member 4 gene DOID:630 genetic disease ISO RGD:1345589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260847 SLC13A4 solute carrier family 13 member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12260870 ZNF282 zinc finger protein 282 gene DOID:630 genetic disease ISO RGD:1314806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260938 VASP vasodilator stimulated phosphoprotein gene DOID:630 genetic disease ISO RGD:1323055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260938 VASP vasodilator stimulated phosphoprotein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12260959 CHCHD6 coiled-coil-helix-coiled-coil-helix domain containing 6 gene DOID:630 genetic disease ISO RGD:1312070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260959 CHCHD6 coiled-coil-helix-coiled-coil-helix domain containing 6 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1312070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12260959 CHCHD6 coiled-coil-helix-coiled-coil-helix domain containing 6 gene DOID:9270 alkaptonuria ISO RGD:1312070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12260971 MED17 mediator complex subunit 17 gene DOID:0111262 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ISO RGD:1322408 D RGD:7240710 20180130 OMIM 12260971 MED17 mediator complex subunit 17 gene DOID:0111262 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ISO RGD:1322408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly PMID:18414213|PMID:20950787|PMID:25741868|PMID:26004231|PMID:26240385|PMID:28492532|PMID:30345598|PMID:30919572 12260971 MED17 mediator complex subunit 17 gene DOID:1059 intellectual disability ISO RGD:1322408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12260971 MED17 mediator complex subunit 17 gene DOID:10907 microcephaly ISO RGD:1322408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12260971 MED17 mediator complex subunit 17 gene DOID:289 endometriosis ISO RGD:1322408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12260971 MED17 mediator complex subunit 17 gene DOID:630 genetic disease ISO RGD:1322408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20950787|PMID:26004231|PMID:28492532|PMID:30345598 12260987 WDR55 WD repeat domain 55 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1603214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12260987 WDR55 WD repeat domain 55 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12260987 WDR55 WD repeat domain 55 gene DOID:630 genetic disease ISO RGD:1603214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12260987 WDR55 WD repeat domain 55 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12260987 WDR55 WD repeat domain 55 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12260998 LOC478220 chymotrypsin-C gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1318112 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12260998 LOC478220 chymotrypsin-C gene DOID:9006190 Chronic Pancreatitis ISO RGD:1318112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic pancreatitis | ClinVar Annotator: match by term: Pancreatitis, chronic, susceptibility to PMID:18059268|PMID:18172691|PMID:19453252|PMID:20625975|PMID:22427236|PMID:22942235|PMID:23951356|PMID:25569187|PMID:25741868|PMID:28492532 12260998 LOC478220 chymotrypsin-C gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1318112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:16199547|PMID:17576681|PMID:18059268|PMID:18172691|PMID:190101|PMID:19453252|PMID:20625975|PMID:21631589|PMID:22427236|PMID:22580415|PMID:22942235|PMID:23135764|PMID:23430245|PMID:23721890|PMID:23951356|PMID:25251442|PMID:25569187|PMID:25741868|PMID:26013824|PMID:26022124|PMID:26100556|PMID:27264265|PMID:27409067|PMID:28166811|PMID:28492532|PMID:28497564|PMID:29669919|PMID:30420730|PMID:9536098 12260998 LOC478220 chymotrypsin-C gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1318112 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:16199547|PMID:17576681|PMID:18059268|PMID:18172691|PMID:190101|PMID:19404200|PMID:19453252|PMID:19951900|PMID:20625975|PMID:21631589|PMID:22427236|PMID:22580415|PMID:22942235|PMID:23135764|PMID:23430245|PMID:23721890|PMID:23951356|PMID:24002981|PMID:25251442|PMID:25383785|PMID:25569187|PMID:25636364|PMID:25658757|PMID:25741868|PMID:26013824|PMID:26100556|PMID:26166474|PMID:27086061|PMID:27264265|PMID:27409067|PMID:28166811|PMID:28440306|PMID:28492532|PMID:28497564|PMID:28502372|PMID:28650851|PMID:29173301|PMID:29669919|PMID:30134826|PMID:30420730|PMID:30640231|PMID:31900721|PMID:33101984|PMID:8168476|PMID:9536098 12260998 LOC478220 chymotrypsin-C gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1318112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:16199547|PMID:17576681|PMID:18059268|PMID:18172691|PMID:190101|PMID:19404200|PMID:19407484|PMID:19453252|PMID:19951900|PMID:20625975|PMID:21631589|PMID:22427236|PMID:22580415|PMID:22942235|PMID:23135764|PMID:23430245|PMID:23721890|PMID:23951356|PMID:24002981|PMID:25251442|PMID:25383785|PMID:25569187|PMID:25636364|PMID:25658757|PMID:25741868|PMID:26013824|PMID:26022124|PMID:26100556|PMID:26166474|PMID:27086061|PMID:27264265|PMID:27409067|PMID:28440306|PMID:28492532|PMID:28497564|PMID:28502372|PMID:28650851|PMID:29173301|PMID:29669919|PMID:30134826|PMID:30420730|PMID:30640231|PMID:31900721|PMID:33101984|PMID:8168476|PMID:9536098 12260998 LOC478220 chymotrypsin-C gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1318112 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:16199547|PMID:17576681|PMID:18059268|PMID:18172691|PMID:19404200|PMID:19407484|PMID:19453252|PMID:19951900|PMID:20625975|PMID:21631589|PMID:22427236|PMID:22580415|PMID:22942235|PMID:23135764|PMID:23430245|PMID:23721890|PMID:23951356|PMID:24002981|PMID:25251442|PMID:25383785|PMID:25569187|PMID:25636364|PMID:25658757|PMID:25741868|PMID:26013824|PMID:26022124|PMID:26100556|PMID:26166474|PMID:27086061|PMID:27264265|PMID:27409067|PMID:28440306|PMID:28492532|PMID:28497564|PMID:28502372|PMID:28650851|PMID:29173301|PMID:29669919|PMID:30134826|PMID:30420730|PMID:30640231|PMID:31900721|PMID:33101984|PMID:8168476|PMID:9536098 12260998 LOC478220 chymotrypsin-C gene DOID:9008999 Hereditary Pancreatitis susceptibility ISO RGD:1318112 D RGD:7240710 20230505 OMIM 12261010 CD47 CD47 molecule gene DOID:3312 bipolar disorder ISO RGD:737350 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12261010 CD47 CD47 molecule gene DOID:630 genetic disease ISO RGD:737350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261035 LOC478720 transmembrane protein 14C gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:1313920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 13 with adult I phenotype PMID:28492532 12261035 LOC478720 transmembrane protein 14C gene DOID:630 genetic disease ISO RGD:1313920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261047 NNT nicotinamide nucleotide transhydrogenase gene DOID:0080621 glucocorticoid deficiency 1 ISO RGD:1351355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22634753 12261047 NNT nicotinamide nucleotide transhydrogenase gene DOID:630 genetic disease ISO RGD:1351355 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12261047 NNT nicotinamide nucleotide transhydrogenase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12261047 NNT nicotinamide nucleotide transhydrogenase gene DOID:9005904 Glucocorticoid Deficiency 4 ISO RGD:1351355 D RGD:7240710 20180130 OMIM 12261047 NNT nicotinamide nucleotide transhydrogenase gene DOID:9005904 Glucocorticoid Deficiency 4 ISO RGD:1351355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 4 PMID:22634753|PMID:23474776|PMID:25741868|PMID:26070314|PMID:26548497|PMID:27129361|PMID:28492532|PMID:33223529 12261047 NNT nicotinamide nucleotide transhydrogenase gene DOID:9970 obesity ISO RGD:1587346 D RGD:9068941 20200609 RGD protein:decreased expression:gastrocnemius, soleus PMID:25761734|REF_RGD_ID:13513980 12261075 KDM5B lysine demethylase 5B gene DOID:0060041 autism spectrum disorder ISO RGD:1322449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868 12261075 KDM5B lysine demethylase 5B gene DOID:0081226 autosomal recessive intellectual developmental disorder 65 ISO RGD:1322449 D RGD:7240710 20190315 OMIM 12261075 KDM5B lysine demethylase 5B gene DOID:0081226 autosomal recessive intellectual developmental disorder 65 ISO RGD:1322449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 65 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 PMID:25741868|PMID:28492532|PMID:29276005|PMID:30217758|PMID:30409806 12261075 KDM5B lysine demethylase 5B gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1322449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12261075 KDM5B lysine demethylase 5B gene DOID:10283 prostate cancer severity ISO RGD:1322449 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland (human) PMID:18048344|REF_RGD_ID:9587744 12261075 KDM5B lysine demethylase 5B gene DOID:1059 intellectual disability ISO RGD:1322449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12261075 KDM5B lysine demethylase 5B gene DOID:11054 urinary bladder cancer ISO RGD:1322449 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder (human) PMID:20226085|REF_RGD_ID:9587778 12261075 KDM5B lysine demethylase 5B gene DOID:1540 parathyroid carcinoma ISO RGD:1322449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12261075 KDM5B lysine demethylase 5B gene DOID:1612 breast cancer treatment ISO RGD:1322449 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:21369698|REF_RGD_ID:9587774 12261075 KDM5B lysine demethylase 5B gene DOID:3070 high grade glioma ISO RGD:1322449 D RGD:9068941 20200609 RGD PMID:25450384|REF_RGD_ID:13702126 12261075 KDM5B lysine demethylase 5B gene DOID:3070 high grade glioma disease_progression ISO RGD:1322449 D RGD:9068941 20200609 RGD PMID:25450384|REF_RGD_ID:13702126 12261075 KDM5B lysine demethylase 5B gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1322449 D RGD:9068941 20200609 RGD protein:increased expression:esophageal mucosa, cytoplasm (human) PMID:22534467|REF_RGD_ID:9587776 12261075 KDM5B lysine demethylase 5B gene DOID:6039 uveal melanoma severity ISO RGD:1322449 D RGD:9068941 20200609 RGD protein:increased expression:uvea (human) PMID:22669717|REF_RGD_ID:9587775 12261075 KDM5B lysine demethylase 5B gene DOID:630 genetic disease ISO RGD:1322449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12261075 KDM5B lysine demethylase 5B gene DOID:9002928 Colonic Neoplasms ISO RGD:1322449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25043185 12261075 KDM5B lysine demethylase 5B gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1322449 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12261075 KDM5B lysine demethylase 5B gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:1322449 D RGD:9068941 20200609 RGD PMID:23354547|REF_RGD_ID:9587777 12261075 KDM5B lysine demethylase 5B gene DOID:9008582 Developmental Disease ISO RGD:1322449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12261075 KDM5B lysine demethylase 5B gene DOID:9008939 Breast Neoplasms severity ISO RGD:1322449 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:10336460|REF_RGD_ID:9587743 12261075 KDM5B lysine demethylase 5B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12261106 RABGAP1 RAB GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1312283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261159 SDR9C7 short chain dehydrogenase/reductase family 9C member 7 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:732810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital ichthyosis of skin PMID:25741868|PMID:28369735|PMID:28492532|PMID:28906551|PMID:31671075|PMID:33422619 12261159 SDR9C7 short chain dehydrogenase/reductase family 9C member 7 gene DOID:0080257 autosomal recessive congenital ichthyosis 13 ISO RGD:732810 D RGD:7240710 20190315 OMIM 12261159 SDR9C7 short chain dehydrogenase/reductase family 9C member 7 gene DOID:0080257 autosomal recessive congenital ichthyosis 13 ISO RGD:732810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 13 PMID:25741868|PMID:28173123|PMID:28369735|PMID:28492532|PMID:28906551|PMID:31671075|PMID:33422619 12261159 SDR9C7 short chain dehydrogenase/reductase family 9C member 7 gene DOID:630 genetic disease ISO RGD:732810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:0080600 COVID-19 ISO RGD:735430 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:0080600 COVID-19 ISO RGD:735430 D RGD:9068941 20200618 RGD protein:increased expression:serum: PMID:32416070|REF_RGD_ID:30296676 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:0080600 COVID-19 ISO RGD:735430 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:0080600 COVID-19 severity ISO RGD:735430 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|PMID:32360286|REF_RGD_ID:30309209|REF_RGD_ID:30309212 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:0080685 aortic dissection ISO RGD:735430 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:34409081 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:10964 cholesteatoma of middle ear ISO RGD:735430 D RGD:9068941 20200609 RGD protein:decreased expression:skin PMID:8737779|REF_RGD_ID:8662931 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:11121 pulpitis ISO RGD:2892 D RGD:9068941 20200609 RGD protein:increased expression:dental pulp,trigeminal ganglion: PMID:19732182|REF_RGD_ID:8662895 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:1205 allergic disease ISO RGD:735430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:289 endometriosis ISO RGD:735430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642|PMID:21063030 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:2921 glomerulonephritis ISO RGD:735431 D RGD:9068941 20200609 RGD PMID:17500042|REF_RGD_ID:7207036 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:735430 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:37 skin disease ISO RGD:735430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:418 systemic scleroderma ISO RGD:735430 D RGD:9068941 20200609 RGD PMID:1375465|REF_RGD_ID:8662902 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:552 pneumonia ISO RGD:735430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:630 genetic disease ISO RGD:735430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2892 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord PMID:16456668|REF_RGD_ID:7207035 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:735431 D RGD:9068941 20200609 RGD PMID:17901159|REF_RGD_ID:2311107 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:9000998 Brain Injuries ISO RGD:735430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:2892 D RGD:9068941 20200609 RGD mRNA:increased expression:hypoglossal nerve PMID:11311987|REF_RGD_ID:5037239 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:9002211 Hyperalgesia ISO RGD:2892 D RGD:9068941 20200609 RGD PMID:19022353|REF_RGD_ID:8662898 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:9002211 Hyperalgesia ISO RGD:735431 D RGD:9068941 20200609 RGD PMID:11585580|REF_RGD_ID:8662903 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:9003321 Bacterial Keratitis ISO RGD:735431 D RGD:9068941 20200609 RGD associated with Serratia Infections; PMID:23033384|REF_RGD_ID:8662876 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:735430 D RGD:9068941 20200609 RGD PMID:18637763|REF_RGD_ID:5037238 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:9003730 Chemical Burns ISO RGD:735430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:735431 D RGD:9068941 20200609 RGD PMID:16797208|REF_RGD_ID:5037237 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:9007599 Ocular Onchocerciasis ISO RGD:735431 D RGD:9068941 20200609 RGD PMID:19168746|REF_RGD_ID:8662882 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735430 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:11197691|REF_RGD_ID:2311106 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735430 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:8911996|REF_RGD_ID:6892703 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735431 D RGD:9068941 20200609 RGD protein:decreased expression:pancreatic islet PMID:7835294|REF_RGD_ID:2311068 12261167 IL1R1 interleukin 1 receptor type 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735431 D RGD:9068941 20220825 MouseDO OMIM:222100 12261197 BTNL2 butyrophilin like 2 gene DOID:0050553 JMP syndrome ISO RGD:1353557 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12261197 BTNL2 butyrophilin like 2 gene DOID:10322 berylliosis ISO RGD:1353557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17927685 12261197 BTNL2 butyrophilin like 2 gene DOID:10322 berylliosis susceptibility ISO RGD:1353557 D RGD:9068941 20200609 RGD DNA:SNP: :rs3117099(human) PMID:17927685|REF_RGD_ID:9685029 12261197 BTNL2 butyrophilin like 2 gene DOID:11335 sarcoidosis ISO RGD:1353557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sarcoidosis, susceptibility to, 2 PMID:15735647 12261197 BTNL2 butyrophilin like 2 gene DOID:11335 sarcoidosis susceptibility ISO RGD:1353557 D RGD:7240710 20190502 OMIM 12261197 BTNL2 butyrophilin like 2 gene DOID:12361 Graves' disease onset ISO RGD:1353557 D RGD:9068941 20200609 RGD DNA:SNP: :rs17577980(human) PMID:24684463|REF_RGD_ID:9685042 12261197 BTNL2 butyrophilin like 2 gene DOID:13378 Kawasaki disease susceptibility ISO RGD:1353557 D RGD:9068941 20200609 RGD DNA:SNP: :rs 1555115(human) PMID:19882345|REF_RGD_ID:9685030 12261197 BTNL2 butyrophilin like 2 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1353557 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome; DNA:SNP: :rs 2395158(human) PMID:19882345|REF_RGD_ID:9685030 12261197 BTNL2 butyrophilin like 2 gene DOID:399 tuberculosis no_association ISO RGD:1353557 D RGD:9068941 20200609 RGD DNA:SNPs,haplotypes: : PMID:17347014|REF_RGD_ID:9685036 12261197 BTNL2 butyrophilin like 2 gene DOID:399 tuberculosis susceptibility ISO RGD:1353557 D RGD:9068941 20200609 RGD DNA:SNPs,haplotypes: : rs3763313, rs9268494, rs9268492(human) PMID:20176143|REF_RGD_ID:9685035 12261197 BTNL2 butyrophilin like 2 gene DOID:630 genetic disease ISO RGD:1353557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261197 BTNL2 butyrophilin like 2 gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1353557 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:23364395|REF_RGD_ID:9685033 12261197 BTNL2 butyrophilin like 2 gene DOID:8577 ulcerative colitis susceptibility ISO RGD:1353557 D RGD:9068941 20200609 RGD DNA:SNPs: : rs2294881,rs9268480,rs2076523(human) PMID:19659809|REF_RGD_ID:9685032 12261213 FBXL6 F-box and leucine rich repeat protein 6 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1353759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12261213 FBXL6 F-box and leucine rich repeat protein 6 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1353759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12261213 FBXL6 F-box and leucine rich repeat protein 6 gene DOID:4621 holoprosencephaly ISO RGD:1353759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12261213 FBXL6 F-box and leucine rich repeat protein 6 gene DOID:630 genetic disease ISO RGD:1353759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261228 DHX57 DExH-box helicase 57 gene DOID:0080690 RASopathy ISO RGD:1321188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12261228 DHX57 DExH-box helicase 57 gene DOID:3883 Lynch syndrome ISO RGD:1321188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12261228 DHX57 DExH-box helicase 57 gene DOID:630 genetic disease ISO RGD:1321188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261228 DHX57 DExH-box helicase 57 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12261270 FUT1 fucosyltransferase 1 (H blood group) gene DOID:630 genetic disease ISO RGD:737372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261301 SSBP4 single stranded DNA binding protein 4 gene DOID:630 genetic disease ISO RGD:1350792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261301 SSBP4 single stranded DNA binding protein 4 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1350792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12261333 ICAM5 intercellular adhesion molecule 5 gene DOID:0080600 COVID-19 ISO RGD:1312830 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12261333 ICAM5 intercellular adhesion molecule 5 gene DOID:0080600 COVID-19 ISO RGD:1312830 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 12261333 ICAM5 intercellular adhesion molecule 5 gene DOID:630 genetic disease ISO RGD:1312830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261333 ICAM5 intercellular adhesion molecule 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1312830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 12261333 ICAM5 intercellular adhesion molecule 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1312830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 12261355 ZNF384 zinc finger protein 384 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1345674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12261355 ZNF384 zinc finger protein 384 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1345674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12261355 ZNF384 zinc finger protein 384 gene DOID:0111621 Temtamy syndrome ISO RGD:1345674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12261355 ZNF384 zinc finger protein 384 gene DOID:630 genetic disease ISO RGD:1345674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261355 ZNF384 zinc finger protein 384 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1345674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12261377 NCOA2 nuclear receptor coactivator 2 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:732737 D RGD:9068941 20220721 RGD protein:increased expression:colorectal mucosa (human) PMID:19198856|REF_RGD_ID:153002579 12261377 NCOA2 nuclear receptor coactivator 2 gene DOID:0080199 colorectal carcinoma ameliorates ISO RGD:732737 D RGD:9068941 20220721 RGD human gene and cell line in a mouse model PMID:25823027|REF_RGD_ID:11085507 12261377 NCOA2 nuclear receptor coactivator 2 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:732737 D RGD:9068941 20220721 RGD protein:increased expression:colorectum, myofibroblast cell, cytoplasm (human) PMID:19277704|REF_RGD_ID:153002577 12261377 NCOA2 nuclear receptor coactivator 2 gene DOID:10283 prostate cancer ISO RGD:732737 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate (human) PMID:20166126|REF_RGD_ID:5688351 12261377 NCOA2 nuclear receptor coactivator 2 gene DOID:10534 stomach cancer ISO RGD:732737 D RGD:9068941 20220721 RGD protein:increased expression:stomach (human) PMID:32489143|REF_RGD_ID:153002574 12261377 NCOA2 nuclear receptor coactivator 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:620108 D RGD:9068941 20220609 RGD PMID:29535146|REF_RGD_ID:152985548 12261377 NCOA2 nuclear receptor coactivator 2 gene DOID:2526 prostate adenocarcinoma ameliorates ISO RGD:732737 D RGD:9068941 20220721 RGD human cells in mouse model PMID:25664849|REF_RGD_ID:153002575 12261377 NCOA2 nuclear receptor coactivator 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732737 D RGD:9068941 20220721 RGD DNA:SNPs:introns: (rs2926702, rs11993276) (human) PMID:23144319|REF_RGD_ID:153002581 12261377 NCOA2 nuclear receptor coactivator 2 gene DOID:630 genetic disease ISO RGD:732737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261377 NCOA2 nuclear receptor coactivator 2 gene DOID:684 hepatocellular carcinoma ISO RGD:732738 D RGD:9068941 20220721 RGD PMID:28273073|REF_RGD_ID:153002573 12261377 NCOA2 nuclear receptor coactivator 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:732738 D RGD:9068941 20220721 RGD PMID:22556267|REF_RGD_ID:153002576 12261377 NCOA2 nuclear receptor coactivator 2 gene DOID:7474 malignant pleural mesothelioma ameliorates ISO RGD:732737 D RGD:9068941 20220721 RGD protein:increased expression:mesothelium of pleural cavity (human) PMID:22011668|REF_RGD_ID:153002578 12261377 NCOA2 nuclear receptor coactivator 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732737 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12237244 12261377 NCOA2 nuclear receptor coactivator 2 gene DOID:9004702 Pregnancy Complications ISO RGD:620108 D RGD:9068941 20200609 RGD mRNA:decreased expression:uterus (rat) PMID:20660062|REF_RGD_ID:5688349 12261377 NCOA2 nuclear receptor coactivator 2 gene DOID:9004980 Chronobiology Disorders ISO RGD:732738 D RGD:9068941 20220721 RGD PMID:27432117|REF_RGD_ID:153002580 12261377 NCOA2 nuclear receptor coactivator 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732737 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20332317 12261377 NCOA2 nuclear receptor coactivator 2 gene DOID:9119 acute myeloid leukemia ISO RGD:732737 D RGD:9068941 20200609 RGD human gene in a mouse model;DNA:translocation:exon PMID:12676584|REF_RGD_ID:9590334 12261416 ACAT1 acetyl-CoA acetyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:737017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12261416 ACAT1 acetyl-CoA acetyltransferase 1 gene DOID:1184 nephrotic syndrome ISO RGD:2016 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:19147991|REF_RGD_ID:2307223 12261416 ACAT1 acetyl-CoA acetyltransferase 1 gene DOID:12704 ataxia telangiectasia ISO RGD:737017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12261416 ACAT1 acetyl-CoA acetyltransferase 1 gene DOID:14723 beta-ketothiolase deficiency ISO RGD:737017 D RGD:7240710 20180130 OMIM 12261416 ACAT1 acetyl-CoA acetyltransferase 1 gene DOID:14723 beta-ketothiolase deficiency ISO RGD:737017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:11161836|PMID:11161837|PMID:11914035|PMID:12754704|PMID:1346617|PMID:1373235|PMID:14518824|PMID:15128923|PMID:15877211|PMID:16199547|PMID:1627655|PMID:1715688|PMID:17236799|PMID:17576681|PMID:18511318|PMID:19763152|PMID:20046049|PMID:20156697|PMID:20157782|PMID:20307669|PMID:20488739|PMID:21669895|PMID:22406018|PMID:23430882|PMID:23958592|PMID:24516753|PMID:24517888|PMID:25559898|PMID:25640679|PMID:25741868|PMID:27264805|PMID:27748876|PMID:27928777|PMID:28220263|PMID:28255778|PMID:28361105|PMID:28393214|PMID:28492532|PMID:28689740|PMID:28726122|PMID:28875337|PMID:29402417|PMID:29624230|PMID:30393371|PMID:30835345|PMID:31156707|PMID:31268215|PMID:32778825|PMID:34001203|PMID:34298581|PMID:4690360|PMID:7173255|PMID:7728148|PMID:7728155|PMID:7749408|PMID:7907600|PMID:8103405|PMID:9536098|PMID:9700610|PMID:9744475 12261416 ACAT1 acetyl-CoA acetyltransferase 1 gene DOID:2349 arteriosclerosis ISO RGD:737017 D RGD:9068941 20200609 RGD mRNA:increased expression:atherosclerotic lesions (human) PMID:15961705|REF_RGD_ID:1581042 12261416 ACAT1 acetyl-CoA acetyltransferase 1 gene DOID:2978 carbohydrate metabolic disorder ISO RGD:737017 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:7617578|REF_RGD_ID:2326222 12261416 ACAT1 acetyl-CoA acetyltransferase 1 gene DOID:630 genetic disease ISO RGD:737017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12261416 ACAT1 acetyl-CoA acetyltransferase 1 gene DOID:783 end stage renal disease ISO RGD:2016 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:19878707|REF_RGD_ID:2326081 12261416 ACAT1 acetyl-CoA acetyltransferase 1 gene DOID:783 end stage renal disease ISO RGD:737017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 12261416 ACAT1 acetyl-CoA acetyltransferase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12261416 ACAT1 acetyl-CoA acetyltransferase 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:737017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12261435 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:0060041 autism spectrum disorder ISO RGD:735407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12261435 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:0060067 Pearson syndrome ISO RGD:735407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pearson syndrome PMID:25741868|PMID:28492532 12261435 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency IAGP D RGD:12801476 20210603 OMIA Exercise induced metabolic myopathy PMID:29491033|PMID:31814088 12261435 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:735407 D RGD:7240710 20180130 OMIM 12261435 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:735407 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: VLCAD deficiency | ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:10077518|PMID:10384387|PMID:10431122|PMID:10518280|PMID:10529389|PMID:10738914|PMID:10790204|PMID:11158518|PMID:11349232|PMID:11590124|PMID:11914034|PMID:12122118|PMID:12208138|PMID:12213615|PMID:12893739|PMID:14517516|PMID:14728674|PMID:15210884|PMID:16199547|PMID:16435213|PMID:16443431|PMID:16464760|PMID:16488171|PMID:16860141|PMID:16895136|PMID:16950999|PMID:16982043|PMID:17206456|PMID:17374501|PMID:17514507|PMID:17576681|PMID:17999356|PMID:18227065|PMID:18414213|PMID:18670371|PMID:19208414|PMID:19327992|PMID:20056241|PMID:2006090|PMID:20060901|PMID:20107901|PMID:20301763|PMID:20480395|PMID:20547398|PMID:20694756|PMID:21228398|PMID:21378393|PMID:21429517|PMID:21531094|PMID:21814341|PMID:21932095|PMID:22841441|PMID:22847164|PMID:23169530|PMID:23418865|PMID:23430948|PMID:23430950|PMID:23480858|PMID:23700290|PMID:23757202|PMID:23774949|PMID:23798014|PMID:23867825|PMID:23966064|PMID:24033266|PMID:24263034|PMID:24305961|PMID:24330285|PMID:24503138|PMID:24801231|PMID:24898617|PMID:25085675|PMID:25087612|PMID:25214167|PMID:25242572|PMID:25338548|PMID:25456746|PMID:25525159|PMID:25652019|PMID:25655073|PMID:25741868|PMID:25811481|PMID:25834949|PMID:25843429|PMID:26182500|PMID:26385305|PMID:26453363|PMID:26602010|PMID:26743058|PMID:26881790|PMID:26927351|PMID:26937394|PMID:27029698|PMID:27209629|PMID:27246109|PMID:27538624|PMID:27884173|PMID:27943070|PMID:27995075|PMID:28468868|PMID:28492532|PMID:28600779|PMID:28747690|PMID:28755339|PMID:28755359|PMID:28871440|PMID:29111448|PMID:29268767|PMID:2951924|PMID:29552494|PMID:29961767|PMID:30023301|PMID:30194637|PMID:30950014|PMID:31031081|PMID:31191348|PMID:31497477|PMID:31620161|PMID:31737040|PMID:31794763|PMID:31983732|PMID:32054689|PMID:32061778|PMID:32276429|PMID:32518924|PMID:32558070|PMID:32581362|PMID:32655480|PMID:32710939|PMID:32778825|PMID:32793418|PMID:32798077|PMID:32860008|PMID:32928639|PMID:32954689|PMID:33123633|PMID:33150772|PMID:33610471|PMID:33986768|PMID:33996489|PMID:34184355|PMID:34194748|PMID:34426522|PMID:34437764|PMID:34704412|PMID:35281659|PMID:35400565|PMID:4022672|PMID:609575|PMID:7479827|PMID:7668252|PMID:7769092|PMID:8554073|PMID:8739957|PMID:8845838|PMID:9461620|PMID:9536098|PMID:9546340|PMID:9599005|PMID:9709714|PMID:9839948|PMID:9973285 12261435 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:2014 D RGD:9068941 20200609 RGD PMID:22569299|PMID:23076603|REF_RGD_ID:10047121|REF_RGD_ID:10047124 12261435 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:735407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 12261435 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:735407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 12261435 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:735407 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12261435 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:0111254 glutaric acidemia I ISO RGD:1318827 D RGD:9068941 20200609 RGD PMID:15840571|REF_RGD_ID:10047115 12261435 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:0112044 non-syndromic X-linked intellectual disability 98 ISO RGD:735407 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98 PMID:25741868 12261435 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:1059 intellectual disability ISO RGD:735407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12261435 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:10652 Alzheimer's disease ISO RGD:735407 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:25260493|REF_RGD_ID:10047114 12261435 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:12177 common variable immunodeficiency ISO RGD:735407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12261435 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:12930 dilated cardiomyopathy ISO RGD:735407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21932095|PMID:25087612|PMID:25741868|PMID:26385305|PMID:27209629|PMID:28468868|PMID:28492532|PMID:31031081|PMID:34437764|PMID:35281659 12261435 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:2729 dyskeratosis congenita ISO RGD:735407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12261435 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:3012 Li-Fraumeni syndrome ISO RGD:735407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12261435 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:423 myopathy ISO RGD:735407 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy PMID:14517516|PMID:19327992|PMID:20060901|PMID:21429517|PMID:23798014|PMID:25214167|PMID:25741868|PMID:26385305|PMID:28492532|PMID:30194637|PMID:9973285 12261435 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:735407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12261435 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:630 genetic disease ISO RGD:735407 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10077518|PMID:11590124|PMID:12208138|PMID:12213615|PMID:14517516|PMID:16860141|PMID:17374501|PMID:17576681|PMID:17999356|PMID:19208414|PMID:19327992|PMID:20107901|PMID:20301763|PMID:21429517|PMID:21932095|PMID:23169530|PMID:23418865|PMID:23430948|PMID:23480858|PMID:23798014|PMID:23867825|PMID:24033266|PMID:24503138|PMID:24801231|PMID:25085675|PMID:25214167|PMID:25741868|PMID:26385305|PMID:26743058|PMID:26937394|PMID:27209629|PMID:27246109|PMID:28492532|PMID:28747690|PMID:28871440|PMID:30194637|PMID:30504930|PMID:31031081|PMID:32054689|PMID:32061778|PMID:32518924|PMID:32778825|PMID:32928639|PMID:32954689|PMID:34194748|PMID:34564390|PMID:35281659|PMID:35400565|PMID:7479827|PMID:8739957|PMID:8845838|PMID:9536098|PMID:9973285 12261435 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:9000064 Cardiac Arrhythmias ISO RGD:735407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868 12261435 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:9000884 Rhabdomyolysis ISO RGD:735407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:11158518|PMID:15210884|PMID:20060901|PMID:24801231|PMID:25741868|PMID:28492532|PMID:32581362|PMID:9546340|PMID:9973285 12261435 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:9001103 Heat Stress Disorders ISO RGD:2014 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:17374454|REF_RGD_ID:8553966 12261435 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:9002669 Hypoxia ISO RGD:735407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18258771 12261435 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:9003710 Autosomal Dominant Intellectual Developmental Disorder 62 ISO RGD:735407 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder 62 PMID:25741868|PMID:27618451 12261435 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10058 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:25260493|REF_RGD_ID:10047114 12261435 ACADVL acyl-CoA dehydrogenase very long chain gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:2014 D RGD:9068941 20200609 RGD PMID:25191539|REF_RGD_ID:10047118 12261458 KRT13 keratin 13 gene DOID:0050448 white sponge nevus ISO RGD:1332221 D RGD:9068941 20230202 MouseDO OMIM:193900 | OMIM:615785 12261458 KRT13 keratin 13 gene DOID:0050448 white sponge nevus ISO RGD:1349257 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism 12261458 KRT13 keratin 13 gene DOID:0081287 white sponge nevus 1 ISO RGD:1349257 D RGD:8554872 20230131 ClinVar ClinVar Annotator: match by term: White sponge nevus 1 12261458 KRT13 keratin 13 gene DOID:0081288 white sponge nevus 2 ISO RGD:1349257 D RGD:7240710 20230201 OMIM 12261458 KRT13 keratin 13 gene DOID:0081288 white sponge nevus 2 ISO RGD:1349257 D RGD:8554872 20230131 ClinVar ClinVar Annotator: match by term: White sponge nevus 2 PMID:14600690|PMID:25741868|PMID:28492532|PMID:7493031|PMID:7532199 12261458 KRT13 keratin 13 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1349257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12261458 KRT13 keratin 13 gene DOID:630 genetic disease ISO RGD:1349257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261458 KRT13 keratin 13 gene DOID:9007168 Genetic Skin Diseases susceptibility ISO RGD:1349257 D RGD:9068941 20200609 RGD DNA:missense mutation: ; white sponge nevus, OMIM:193900 PMID:7493031|REF_RGD_ID:1304472 12261470 H2BW1 H2B.W histone 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12261470 H2BW1 H2B.W histone 1 gene DOID:12849 autistic disorder ISO RGD:1606133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12261470 H2BW1 H2B.W histone 1 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1606133 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:1720927|PMID:9633722|PMID:9634530 12261470 H2BW1 H2B.W histone 1 gene DOID:630 genetic disease ISO RGD:1606133 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261480 CDSN corneodesmosin gene DOID:0050553 JMP syndrome ISO RGD:1353195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12261480 CDSN corneodesmosin gene DOID:0060283 peeling skin syndrome ISO RGD:1353195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12261480 CDSN corneodesmosin gene DOID:0110699 hypotrichosis 2 ISO RGD:1353195 D RGD:7240710 20180130 OMIM 12261480 CDSN corneodesmosin gene DOID:0110699 hypotrichosis 2 ISO RGD:1353195 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypotrichosis 2 PMID:10793007|PMID:12754508|PMID:25741868|PMID:28492532|PMID:3652491 12261480 CDSN corneodesmosin gene DOID:11372 megacolon ISO RGD:1353195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12261480 CDSN corneodesmosin gene DOID:3310 atopic dermatitis ISO RGD:1353195 D RGD:9068941 20210226 RGD protein:decreased expression:skin of body (human) PMID:21211653|REF_RGD_ID:42721970 12261480 CDSN corneodesmosin gene DOID:630 genetic disease ISO RGD:1353195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261480 CDSN corneodesmosin gene DOID:9002384 Peeling Skin Syndrome 1 ISO RGD:1353195 D RGD:7240710 20180606 OMIM 12261480 CDSN corneodesmosin gene DOID:9002384 Peeling Skin Syndrome 1 ISO RGD:1353195 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peeling skin syndrome 1 PMID:20691404|PMID:21191406|PMID:22146835|PMID:23957618|PMID:2434123|PMID:25741868|PMID:28492532|PMID:31690835 12261480 CDSN corneodesmosin gene DOID:987 alopecia ISO RGD:1353195 D RGD:9068941 20200609 RGD hypotrichosis simplex of the scalp, OMIM:146520 DNA:point_mutation:CDS:C643T or C598T -> amino acid Q215X or Q200X PMID:12754508|REF_RGD_ID:1599783 12261486 ADAM18 ADAM metallopeptidase domain 18 gene DOID:630 genetic disease ISO RGD:1350533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261530 EPDR1 ependymin related 1 gene DOID:13550 angle-closure glaucoma ISO RGD:1343278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27064256 12261530 EPDR1 ependymin related 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12261530 EPDR1 ependymin related 1 gene DOID:630 genetic disease ISO RGD:1343278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261536 HOXA2 homeobox A2 gene DOID:0050682 Athabaskan brainstem dysgenesis syndrome ISO RGD:1353431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Navajo brainstem syndrome 12261536 HOXA2 homeobox A2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12261536 HOXA2 homeobox A2 gene DOID:630 genetic disease ISO RGD:1353431 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261536 HOXA2 homeobox A2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1353431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17786296 12261536 HOXA2 homeobox A2 gene DOID:9001502 Congenital Microtia ISO RGD:1353431 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.558C>A(p.Q186K)(human) PMID:18394579|REF_RGD_ID:11553827 12261536 HOXA2 homeobox A2 gene DOID:9003920 Microtia, Hearing Impairment, and Cleft Palate ISO RGD:1353431 D RGD:7240710 20180130 OMIM 12261536 HOXA2 homeobox A2 gene DOID:9003920 Microtia, Hearing Impairment, and Cleft Palate ISO RGD:1353431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microtia with or without hearing impairment | ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate PMID:18394579|PMID:23775976|PMID:25691070|PMID:25741868 12261542 OR5M8 olfactory receptor family 5 subfamily M member 8 gene DOID:1059 intellectual disability ISO RGD:1343653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12261542 OR5M8 olfactory receptor family 5 subfamily M member 8 gene DOID:630 genetic disease ISO RGD:1343653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261546 PLSCR1 phospholipid scramblase 1 gene DOID:0080600 COVID-19 ISO RGD:1350472 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12261546 PLSCR1 phospholipid scramblase 1 gene DOID:0080600 COVID-19 ISO RGD:1350472 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 12261546 PLSCR1 phospholipid scramblase 1 gene DOID:630 genetic disease ISO RGD:1350472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261546 PLSCR1 phospholipid scramblase 1 gene DOID:9001488 Human Influenza ISO RGD:1350472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12261546 PLSCR1 phospholipid scramblase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12261575 FAM217B family with sequence similarity 217 member B gene DOID:630 genetic disease ISO RGD:1323673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261583 LOC612108 uncharacterized LOC612108 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:16552593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12261583 LOC612108 uncharacterized LOC612108 gene DOID:12849 autistic disorder ISO RGD:16552593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12261590 DSG4 desmoglein 4 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1348036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:28492532 12261590 DSG4 desmoglein 4 gene DOID:0110703 hypotrichosis 6 ISO RGD:1348036 D RGD:7240710 20180130 OMIM 12261590 DSG4 desmoglein 4 gene DOID:0110703 hypotrichosis 6 ISO RGD:1348036 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypotrichosis 6 PMID:12705872|PMID:16439973|PMID:16543896|PMID:16575393|PMID:17392831|PMID:25251037|PMID:25741868|PMID:28492532 12261590 DSG4 desmoglein 4 gene DOID:1059 intellectual disability ISO RGD:1348036 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12261590 DSG4 desmoglein 4 gene DOID:4535 hypotrichosis ISO RGD:1348036 D RGD:9068941 20200609 RGD DNA:deletion PMID:15191570|REF_RGD_ID:1599796 12261590 DSG4 desmoglein 4 gene DOID:4535 hypotrichosis ISO RGD:735015 D RGD:9068941 20200609 RGD DNA:missense mutation PMID:15081105|REF_RGD_ID:1302434 12261590 DSG4 desmoglein 4 gene DOID:4535 hypotrichosis ISO RGD:735015 D RGD:9068941 20211112 RGD PMID:15606503|REF_RGD_ID:150521560 12261590 DSG4 desmoglein 4 gene DOID:4535 hypotrichosis ISO RGD:735015 D RGD:9068941 20211112 RGD DNA:missense mutation:exon 8 (rat) PMID:15617564|REF_RGD_ID:150521562 12261590 DSG4 desmoglein 4 gene DOID:630 genetic disease ISO RGD:1348036 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12261590 DSG4 desmoglein 4 gene DOID:987 alopecia ISO RGD:735015 D RGD:9068941 20211112 RGD DNA:missense mutation:exon 8 (rat) PMID:15617564|REF_RGD_ID:150521562 12261622 KRBA2 KRAB-A domain containing 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:28492532 12261622 KRBA2 KRAB-A domain containing 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1603590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12261622 KRBA2 KRAB-A domain containing 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1603590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12261622 KRBA2 KRAB-A domain containing 2 gene DOID:630 genetic disease ISO RGD:1603590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261638 MLLT11 MLLT11 transcription factor 7 cofactor gene DOID:0111940 immunodeficiency 42 ISO RGD:1605692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12261638 MLLT11 MLLT11 transcription factor 7 cofactor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12261638 MLLT11 MLLT11 transcription factor 7 cofactor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12261638 MLLT11 MLLT11 transcription factor 7 cofactor gene DOID:1540 parathyroid carcinoma ISO RGD:1605692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12261638 MLLT11 MLLT11 transcription factor 7 cofactor gene DOID:5812 MHC class II deficiency ISO RGD:1605692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12261638 MLLT11 MLLT11 transcription factor 7 cofactor gene DOID:630 genetic disease ISO RGD:1605692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261638 MLLT11 MLLT11 transcription factor 7 cofactor gene DOID:8584 Burkitt lymphoma ISO RGD:1605692 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:31587870 12261638 MLLT11 MLLT11 transcription factor 7 cofactor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12261651 NOG noggin gene DOID:0050777 Joubert syndrome ISO RGD:735776 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12261651 NOG noggin gene DOID:0050788 proximal symphalangism ISO RGD:735776 D RGD:9068941 20201022 RGD PMID:10080184|REF_RGD_ID:1600234 12261651 NOG noggin gene DOID:0050788 proximal symphalangism ISO RGD:735776 D RGD:9068941 20201022 RGD DNA:missense mutation:cds:c.499C>T(p.R167C)human PMID:24326127|REF_RGD_ID:12801479 12261651 NOG noggin gene DOID:0050788 proximal symphalangism ISO RGD:735776 D RGD:9068941 20201022 RGD DNA:mutations:cds:g.551G>A (p.C184Y),g.386T>A (p.L129X),g.58delC(human) PMID:11846737|REF_RGD_ID:12801455 12261651 NOG noggin gene DOID:0050788 proximal symphalangism ISO RGD:735776 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism 12261651 NOG noggin gene DOID:0050789 tarsal-carpal coalition syndrome ISO RGD:735776 D RGD:7240710 20180130 OMIM 12261651 NOG noggin gene DOID:0050789 tarsal-carpal coalition syndrome ISO RGD:735776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome PMID:10080184|PMID:11545688|PMID:17245852|PMID:17668388|PMID:25741868|PMID:28492532|PMID:29159868|PMID:4019538|PMID:7557985 12261651 NOG noggin gene DOID:0080171 esophageal atresia/tracheoesophageal fistula ISO RGD:10989 D RGD:9068941 20200609 RGD PMID:17260385|REF_RGD_ID:12801454 12261651 NOG noggin gene DOID:0080171 esophageal atresia/tracheoesophageal fistula ISO RGD:10989 D RGD:9068941 20220825 MouseDO OMIM:189960 12261651 NOG noggin gene DOID:0080600 COVID-19 ISO RGD:735776 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12261651 NOG noggin gene DOID:0080787 proximal symphalangism 1 ISO RGD:735776 D RGD:7240710 20201021 OMIM 12261651 NOG noggin gene DOID:0080787 proximal symphalangism 1 ISO RGD:735776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Proximal symphalangism 1A PMID:10080184|PMID:11160400|PMID:11545688|PMID:11846737|PMID:11857750|PMID:17245852|PMID:17668388|PMID:18440889|PMID:25741868|PMID:28492532|PMID:7557985|PMID:9851982 12261651 NOG noggin gene DOID:0081317 multiple synostoses syndrome 1 ISO RGD:735776 D RGD:7240710 20180130 OMIM 12261651 NOG noggin gene DOID:0081317 multiple synostoses syndrome 1 ISO RGD:735776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome PMID:10080184|PMID:11846737|PMID:15770128|PMID:16532400|PMID:17609215|PMID:20503332|PMID:25741868|PMID:3667255|PMID:6638061 12261651 NOG noggin gene DOID:0110975 brachydactyly type B2 ISO RGD:735776 D RGD:7240710 20180130 OMIM 12261651 NOG noggin gene DOID:0110975 brachydactyly type B2 ISO RGD:735776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly type B2 PMID:11160400|PMID:11857750|PMID:17668388|PMID:18440889|PMID:25741868|PMID:28492532|PMID:29159868|PMID:34008892|PMID:9851982 12261651 NOG noggin gene DOID:0110975 brachydactyly type B2 no_association ISO RGD:735776 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.G92E(human) PMID:22529972|REF_RGD_ID:12801483 12261651 NOG noggin gene DOID:10652 Alzheimer's disease ISO RGD:10989 D RGD:9068941 20200609 RGD PMID:19463786|REF_RGD_ID:10414082 12261651 NOG noggin gene DOID:11476 osteoporosis ISO RGD:10989 D RGD:9068941 20200609 RGD PMID:12975477|REF_RGD_ID:10414323 12261651 NOG noggin gene DOID:12556 acute kidney tubular necrosis ISO RGD:3183 D RGD:9068941 20200609 RGD associated with Kidney Reperfusion Injury PMID:16284088|REF_RGD_ID:1601494 12261651 NOG noggin gene DOID:12858 Huntington's disease treatment ISO RGD:735776 D RGD:9068941 20200609 RGD PMID:17885687|REF_RGD_ID:10415531 12261651 NOG noggin gene DOID:2340 craniosynostosis treatment ISO RGD:735776 D RGD:9068941 20200609 RGD PMID:19627528|REF_RGD_ID:8547554 12261651 NOG noggin gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:735776 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:mononuclear cell" PMID:21111488|REF_RGD_ID:12801480 12261651 NOG noggin gene DOID:5394 prolactinoma ISO RGD:10989 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:pituitary PMID:12552124|REF_RGD_ID:629544 12261651 NOG noggin gene DOID:630 genetic disease ISO RGD:735776 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16532400|PMID:25241334|PMID:28492532 12261651 NOG noggin gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:10989 D RGD:9068941 20200609 RGD PMID:18221366|REF_RGD_ID:10429192 12261651 NOG noggin gene DOID:9001240 Peripheral Nerve Injuries treatment ISO RGD:10989 D RGD:9068941 20200609 RGD PMID:17258709|REF_RGD_ID:10428775 12261651 NOG noggin gene DOID:9003483 Conductive Hearing Loss ISO RGD:10989 D RGD:9068941 20200609 RGD PMID:18096605|REF_RGD_ID:12801451 12261651 NOG noggin gene DOID:9004791 Stapes Ankylosis with Broad Thumbs and Toes ISO RGD:735776 D RGD:7240710 20200311 OMIM 12261651 NOG noggin gene DOID:9004791 Stapes Ankylosis with Broad Thumbs and Toes ISO RGD:735776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stapes ankylosis with broad thumbs and toes PMID:10069712|PMID:11160400|PMID:11857750|PMID:12089654|PMID:17668388|PMID:18440889|PMID:26474326|PMID:28492532|PMID:9851982 12261651 NOG noggin gene DOID:9005616 Micrognathism ISO RGD:735776 D RGD:9068941 20200609 RGD DNA:SNP:rs1348322(human) PMID:20645637|REF_RGD_ID:12801465 12261651 NOG noggin gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:3183 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:lung: PMID:25740156|REF_RGD_ID:12801489 12261651 NOG noggin gene DOID:9296 cleft lip susceptibility ISO RGD:735776 D RGD:9068941 20200609 RGD DNA:SNP: : rs227727 (human) PMID:25704602|REF_RGD_ID:11251786 12261651 NOG noggin gene DOID:9296 cleft lip susceptibility ISO RGD:735776 D RGD:9068941 20200609 RGD DNA:SNP: :rs227731(human) PMID:25339627|REF_RGD_ID:12801482 12261651 NOG noggin gene DOID:9352 type 2 diabetes mellitus ISO RGD:10989 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta PMID:21193740|REF_RGD_ID:10430114 12261651 NOG noggin gene DOID:9352 type 2 diabetes mellitus ISO RGD:3183 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta PMID:21193740|REF_RGD_ID:10430114 12261651 NOG noggin gene DOID:9744 type 1 diabetes mellitus ISO RGD:10989 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta PMID:21193740|REF_RGD_ID:10430114 12261651 NOG noggin gene DOID:9834 hyperopia ISO RGD:735776 D RGD:9068941 20200609 RGD associated with Multiple Synostoses Syndrome 1; DNA:mutation:cds:1426G>C (P.W205C)(Human) PMID:16151340|REF_RGD_ID:12801467 12261666 EIF4G1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1314591 D RGD:7240710 20180130 OMIM 12261666 EIF4G1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1314591 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Parkinson disease 18, autosomal dominant, susceptibility to PMID:21907011|PMID:23408866|PMID:25368108|PMID:25741868|PMID:28492532 12261666 EIF4G1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1314591 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12261666 EIF4G1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1314591 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12261666 EIF4G1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:0080600 COVID-19 ISO RGD:1314591 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12261666 EIF4G1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:0111546 Currarino syndrome ISO RGD:1314591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12261666 EIF4G1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:12849 autistic disorder ISO RGD:1314591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20957522 12261666 EIF4G1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:630 genetic disease ISO RGD:1314591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261666 EIF4G1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1306144 D RGD:9068941 20200609 RGD PMID:16439989|REF_RGD_ID:10401145 12261789 ESRRA estrogen related receptor alpha gene DOID:0014667 disease of metabolism ISO RGD:730826 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16515477 12261789 ESRRA estrogen related receptor alpha gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:730826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12261789 ESRRA estrogen related receptor alpha gene DOID:1059 intellectual disability ISO RGD:730826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12261789 ESRRA estrogen related receptor alpha gene DOID:11476 osteoporosis ISO RGD:730827 D RGD:9068941 20200609 RGD PMID:19936213|REF_RGD_ID:10401868 12261789 ESRRA estrogen related receptor alpha gene DOID:3070 high grade glioma ISO RGD:730826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12261789 ESRRA estrogen related receptor alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:730826 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:22975021 12261789 ESRRA estrogen related receptor alpha gene DOID:3347 osteosarcoma ISO RGD:730826 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:24967384|PMID:34524571 12261789 ESRRA estrogen related receptor alpha gene DOID:6000 congestive heart failure ISO RGD:730826 D RGD:9068941 20200609 RGD protein:decreased expression:heart: PMID:21825219|REF_RGD_ID:10401867 12261789 ESRRA estrogen related receptor alpha gene DOID:630 genetic disease ISO RGD:730826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261789 ESRRA estrogen related receptor alpha gene DOID:9000918 Disease Progression ISO RGD:730826 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34524571 12261789 ESRRA estrogen related receptor alpha gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:730827 D RGD:9068941 20200609 RGD PMID:21825219|REF_RGD_ID:10401867 12261789 ESRRA estrogen related receptor alpha gene DOID:9002170 Experimental Neoplasms ISO RGD:730826 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34524571 12261789 ESRRA estrogen related receptor alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23090186 12261789 ESRRA estrogen related receptor alpha gene DOID:9008939 Breast Neoplasms ISO RGD:730826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961995 12261789 ESRRA estrogen related receptor alpha gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:730826 D RGD:9068941 20200609 RGD PMID:16755280|REF_RGD_ID:1625637 12261789 ESRRA estrogen related receptor alpha gene DOID:9970 obesity no_association ISO RGD:730826 D RGD:9068941 20200609 RGD PMID:16755280|REF_RGD_ID:1625637 12261807 ACTB actin beta gene DOID:0060229 Baraitser-Winter syndrome ISO RGD:735801 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome PMID:10327243|PMID:12325076|PMID:1415343|PMID:16685646|PMID:19252504|PMID:22366783|PMID:23756437|PMID:24033266|PMID:25052316|PMID:25255767|PMID:25741868|PMID:26467025|PMID:26583190|PMID:27862284|PMID:28487785|PMID:28492532|PMID:28849312|PMID:29788902|PMID:30315159|PMID:31970217|PMID:33446253|PMID:9714430 12261807 ACTB actin beta gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:628837 D RGD:9068941 20200609 RGD protein:increased carbonylation:liver PMID:25282656|REF_RGD_ID:11541097 12261807 ACTB actin beta gene DOID:0081112 Baraitser-Winter syndrome 1 ISO RGD:735801 D RGD:7240710 20180130 OMIM 12261807 ACTB actin beta gene DOID:0081112 Baraitser-Winter syndrome 1 ISO RGD:735801 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 | ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation PMID:10327243|PMID:10411937|PMID:10928857|PMID:11311002|PMID:12325076|PMID:1415343|PMID:16685646|PMID:17576681|PMID:18414213|PMID:19252504|PMID:22366783|PMID:23649928|PMID:23756437|PMID:24033266|PMID:25052316|PMID:25156961|PMID:25255767|PMID:25640679|PMID:25741868|PMID:25979418|PMID:26275891|PMID:26467025|PMID:26583190|PMID:26713879|PMID:26795593|PMID:27862284|PMID:28487785|PMID:28492532|PMID:28849312|PMID:29220674|PMID:29261186|PMID:29788902|PMID:30315159|PMID:30733661|PMID:31625567|PMID:31970217|PMID:32860008|PMID:32901917|PMID:33446253|PMID:9536098|PMID:9714430 12261807 ACTB actin beta gene DOID:10003 sensorineural hearing loss ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16685646 12261807 ACTB actin beta gene DOID:1059 intellectual disability ISO RGD:735801 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25052316|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29220674|PMID:30733661|PMID:31625567 12261807 ACTB actin beta gene DOID:10881 hand, foot and mouth disease ISO RGD:735801 D RGD:9068941 20200806 RGD protein:increased expression:serum PMID:30817906|REF_RGD_ID:36947391 12261807 ACTB actin beta gene DOID:12270 coloboma ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22366783 12261807 ACTB actin beta gene DOID:1588 thrombocytopenia ISO RGD:735801 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10411937|PMID:25741868 12261807 ACTB actin beta gene DOID:1934 dysostosis ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16685646 12261807 ACTB actin beta gene DOID:305 carcinoma ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12261807 ACTB actin beta gene DOID:3328 temporal lobe epilepsy ISO RGD:628837 D RGD:9068941 20200609 RGD protein:decreased expression:forebrain, postsynaptic density PMID:11226670|REF_RGD_ID:5147998 12261807 ACTB actin beta gene DOID:543 dystonia ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16685646 12261807 ACTB actin beta gene DOID:630 genetic disease ISO RGD:735801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12325076|PMID:16685646|PMID:17576681|PMID:22366544|PMID:22366783|PMID:25255767|PMID:25741868|PMID:25979418|PMID:26583190|PMID:26713879|PMID:26795593|PMID:27862284|PMID:28487785|PMID:28492532|PMID:28849312|PMID:29220674|PMID:29261186|PMID:29788902|PMID:30315159|PMID:31970217|PMID:33446253|PMID:9536098|PMID:9714430 12261807 ACTB actin beta gene DOID:684 hepatocellular carcinoma ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144|PMID:21472284 12261807 ACTB actin beta gene DOID:8398 osteoarthritis ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12261807 ACTB actin beta gene DOID:9000117 Esophageal Neoplasms ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 12261807 ACTB actin beta gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12261807 ACTB actin beta gene DOID:9002669 Hypoxia ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 12261807 ACTB actin beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12261807 ACTB actin beta gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15654357 12261807 ACTB actin beta gene DOID:9005172 Lung Neoplasms ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23692979 12261807 ACTB actin beta gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12261807 ACTB actin beta gene DOID:9006221 smooth muscle hamartoma ISO RGD:735801 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Congenital smooth muscle hamartoma PMID:32170967 12261807 ACTB actin beta gene DOID:9006534 Nervous System Malformations ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22366783 12261807 ACTB actin beta gene DOID:9006985 Juvenile-Onset Dystonia ISO RGD:735801 D RGD:7240710 20180130 OMIM 12261807 ACTB actin beta gene DOID:9006985 Juvenile-Onset Dystonia ISO RGD:735801 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Juvenile-onset dystonia PMID:12325076|PMID:16685646|PMID:19252504|PMID:22366783|PMID:24033266|PMID:25255767|PMID:25741868|PMID:26467025|PMID:26583190|PMID:27862284|PMID:28487785|PMID:28492532|PMID:28849312|PMID:29220674|PMID:29788902|PMID:30315159|PMID:31970217|PMID:33446253|PMID:9714430 12261807 ACTB actin beta gene DOID:9007102 Myocardial Ischemia ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12261807 ACTB actin beta gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:628837 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:22563491|REF_RGD_ID:9587759 12261807 ACTB actin beta gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12261807 ACTB actin beta gene DOID:9007661 Dwarfism ISO RGD:735801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12261807 ACTB actin beta gene DOID:9007956 Febrile Seizures ISO RGD:628837 D RGD:9068941 20200609 RGD PMID:23237195|REF_RGD_ID:9587751 12261807 ACTB actin beta gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22366783 12261823 BCL2L1 BCL2 like 1 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:735516 D RGD:9068941 20200609 RGD protein:increased expression:colonic mucosa (human) PMID:8625322|REF_RGD_ID:11353854 12261823 BCL2L1 BCL2 like 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:735516 D RGD:9068941 20220826 RGD mRNA, protein:increased expression:mouth (human) PMID:34111459|REF_RGD_ID:153344573 12261823 BCL2L1 BCL2 like 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12261823 BCL2L1 BCL2 like 1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma severity ISO RGD:1552009 D RGD:9068941 20200609 RGD PMID:18216295|REF_RGD_ID:11531108 12261823 BCL2L1 BCL2 like 1 gene DOID:10286 prostate carcinoma ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:17653717|REF_RGD_ID:1643474 12261823 BCL2L1 BCL2 like 1 gene DOID:1037 lymphoid leukemia ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:21998213|REF_RGD_ID:11353857 12261823 BCL2L1 BCL2 like 1 gene DOID:10534 stomach cancer ameliorates ISO RGD:735516 D RGD:9068941 20211029 RGD human cells in mouse model PMID:26432329|REF_RGD_ID:150520156 12261823 BCL2L1 BCL2 like 1 gene DOID:10652 Alzheimer's disease ISO RGD:735516 D RGD:9068941 20200609 RGD protein:increased expression:temporal cortex, membrane PMID:9507158|REF_RGD_ID:10053642 12261823 BCL2L1 BCL2 like 1 gene DOID:10808 gastric ulcer treatment ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:24378970|REF_RGD_ID:10053695 12261823 BCL2L1 BCL2 like 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:18342927|REF_RGD_ID:2292910 12261823 BCL2L1 BCL2 like 1 gene DOID:11383 cryptorchidism ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26050606 12261823 BCL2L1 BCL2 like 1 gene DOID:127 leiomyoma ISO RGD:735516 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell;protein:increased expression:myometrium PMID:16962107|REF_RGD_ID:1643479 12261823 BCL2L1 BCL2 like 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:26004897|REF_RGD_ID:13782348 12261823 BCL2L1 BCL2 like 1 gene DOID:1380 endometrial cancer ISO RGD:735516 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:17311011|REF_RGD_ID:1643476 12261823 BCL2L1 BCL2 like 1 gene DOID:13955 uterus interstitial leiomyoma ISO RGD:735516 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell;protein:increased expression:uterus PMID:16962107|REF_RGD_ID:1643479 12261823 BCL2L1 BCL2 like 1 gene DOID:1596 depressive disorder treatment ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:21308783|REF_RGD_ID:10054142 12261823 BCL2L1 BCL2 like 1 gene DOID:1612 breast cancer ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:16850344|REF_RGD_ID:1643481 12261823 BCL2L1 BCL2 like 1 gene DOID:1793 pancreatic cancer ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16904634 12261823 BCL2L1 BCL2 like 1 gene DOID:1793 pancreatic cancer severity ISO RGD:735516 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:17941720|REF_RGD_ID:11353794 12261823 BCL2L1 BCL2 like 1 gene DOID:1824 status epilepticus ISO RGD:2200 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus (rat) PMID:24051278|REF_RGD_ID:11352818 12261823 BCL2L1 BCL2 like 1 gene DOID:1875 impotence ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:12394778|REF_RGD_ID:1579980 12261823 BCL2L1 BCL2 like 1 gene DOID:1875 impotence ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12394778 12261823 BCL2L1 BCL2 like 1 gene DOID:1909 melanoma disease_progression ISO RGD:735516 D RGD:9068941 20200609 RGD protein:increased expression:skin, subcutaneous tissue (human) PMID:17384650|REF_RGD_ID:11353861 12261823 BCL2L1 BCL2 like 1 gene DOID:2154 nephroblastoma disease_progression ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:15717629|REF_RGD_ID:1643482 12261823 BCL2L1 BCL2 like 1 gene DOID:2316 brain ischemia ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:22843461|REF_RGD_ID:10053716 12261823 BCL2L1 BCL2 like 1 gene DOID:2316 brain ischemia ISO RGD:2200 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:17706879|REF_RGD_ID:1643491 12261823 BCL2L1 BCL2 like 1 gene DOID:2671 transitional cell carcinoma ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:18047955|REF_RGD_ID:1643477 12261823 BCL2L1 BCL2 like 1 gene DOID:289 endometriosis treatment ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:25937801|REF_RGD_ID:11353846 12261823 BCL2L1 BCL2 like 1 gene DOID:3021 acute kidney failure ISO RGD:2200 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:20037173|REF_RGD_ID:10053672 12261823 BCL2L1 BCL2 like 1 gene DOID:305 carcinoma ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10426811 12261823 BCL2L1 BCL2 like 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735516 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood, neutrophil (human) PMID:22686245|REF_RGD_ID:11353864 12261823 BCL2L1 BCL2 like 1 gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:1552009 D RGD:9068941 20200609 RGD PMID:10582606|REF_RGD_ID:13506907 12261823 BCL2L1 BCL2 like 1 gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:18543336|REF_RGD_ID:13506902 12261823 BCL2L1 BCL2 like 1 gene DOID:3459 breast carcinoma ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:16886624|REF_RGD_ID:1643480 12261823 BCL2L1 BCL2 like 1 gene DOID:3602 toxic encephalopathy ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12261823 BCL2L1 BCL2 like 1 gene DOID:409 liver disease ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12261823 BCL2L1 BCL2 like 1 gene DOID:4362 cervical cancer ISO RGD:735516 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17311011|REF_RGD_ID:1643476 12261823 BCL2L1 BCL2 like 1 gene DOID:4450 renal cell carcinoma ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:12025227|REF_RGD_ID:1643483 12261823 BCL2L1 BCL2 like 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12261823 BCL2L1 BCL2 like 1 gene DOID:5844 myocardial infarction ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:17467744|REF_RGD_ID:1643494 12261823 BCL2L1 BCL2 like 1 gene DOID:5844 myocardial infarction ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20079142 12261823 BCL2L1 BCL2 like 1 gene DOID:630 genetic disease ISO RGD:735516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261823 BCL2L1 BCL2 like 1 gene DOID:6432 pulmonary hypertension treatment ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:22559233|REF_RGD_ID:10400914 12261823 BCL2L1 BCL2 like 1 gene DOID:6536 plasma cell neoplasm severity ISO RGD:1552009 D RGD:9068941 20200609 RGD PMID:15725478|REF_RGD_ID:11353872 12261823 BCL2L1 BCL2 like 1 gene DOID:657 adenoma ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10426811 12261823 BCL2L1 BCL2 like 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1552009 D RGD:9068941 20210702 RGD mRNA:increased expression:liver (mouse) PMID:28100771|REF_RGD_ID:127285675 12261823 BCL2L1 BCL2 like 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10629087|PMID:11509945 12261823 BCL2L1 BCL2 like 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2200 D RGD:9068941 20220714 RGD PMID:33841550|REF_RGD_ID:152998960 12261823 BCL2L1 BCL2 like 1 gene DOID:74 hematopoietic system disease severity ISO RGD:735516 D RGD:9068941 20200609 RGD protein:altered expression:mononuclear cell of bone marrow (human) PMID:12111784|REF_RGD_ID:11353871 12261823 BCL2L1 BCL2 like 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:20728382|REF_RGD_ID:11353850 12261823 BCL2L1 BCL2 like 1 gene DOID:8997 polycythemia vera ISO RGD:735516 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow, erythroid cell (human) PMID:9475763|REF_RGD_ID:11353849 12261823 BCL2L1 BCL2 like 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26401016 12261823 BCL2L1 BCL2 like 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1552009 D RGD:9068941 20200609 RGD PMID:22414765|REF_RGD_ID:11353865 12261823 BCL2L1 BCL2 like 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10426811|PMID:28100771 12261823 BCL2L1 BCL2 like 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2200 D RGD:9068941 20200609 RGD protein:increased expression:liver, mitochondrion PMID:17224795|REF_RGD_ID:1643525 12261823 BCL2L1 BCL2 like 1 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:23056591|REF_RGD_ID:10053711 12261823 BCL2L1 BCL2 like 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2200 D RGD:9068941 20200609 RGD associated with Non-alcoholic Fatty Liver Disease PMID:22847887|REF_RGD_ID:10053710 12261823 BCL2L1 BCL2 like 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12721362 12261823 BCL2L1 BCL2 like 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:17675586|REF_RGD_ID:1643478 12261823 BCL2L1 BCL2 like 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:24195677|REF_RGD_ID:10053669 12261823 BCL2L1 BCL2 like 1 gene DOID:9004538 Hearing Loss ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17697574 12261823 BCL2L1 BCL2 like 1 gene DOID:9005172 Lung Neoplasms ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16007126 12261823 BCL2L1 BCL2 like 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:23404339|REF_RGD_ID:10053670 12261823 BCL2L1 BCL2 like 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2200 D RGD:9068941 20200609 RGD protein:decreased expression, altered activity:testis PMID:17870134|REF_RGD_ID:2292685 12261823 BCL2L1 BCL2 like 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16959961 12261823 BCL2L1 BCL2 like 1 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18566236 12261823 BCL2L1 BCL2 like 1 gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:735516 D RGD:9068941 20201218 RGD protein:increased expression:natural killer cell,t cell (human) PMID:26541527|REF_RGD_ID:40902860 12261823 BCL2L1 BCL2 like 1 gene DOID:9007096 Stroke ISO RGD:1552009 D RGD:9068941 20200609 RGD protein:altered localization:cerebral cortex (mouse) PMID:17301160|REF_RGD_ID:11353792 12261823 BCL2L1 BCL2 like 1 gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:2200 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, mitochondrion (rat) PMID:19331832|REF_RGD_ID:11353791 12261823 BCL2L1 BCL2 like 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:12668130|REF_RGD_ID:11035287 12261823 BCL2L1 BCL2 like 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:17675586|REF_RGD_ID:1643478 12261823 BCL2L1 BCL2 like 1 gene DOID:9119 acute myeloid leukemia severity ISO RGD:735516 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood, bone marrow, blast cell (human) PMID:11410409|REF_RGD_ID:11353851 12261823 BCL2L1 BCL2 like 1 gene DOID:9282 ocular hypertension ISO RGD:2200 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:17640403|REF_RGD_ID:1643493 12261823 BCL2L1 BCL2 like 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16959961 12261823 BCL2L1 BCL2 like 1 gene DOID:9538 multiple myeloma ISO RGD:1552009 D RGD:9068941 20200609 RGD PMID:14656874|REF_RGD_ID:11353847 12261823 BCL2L1 BCL2 like 1 gene DOID:9538 multiple myeloma ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12429644 12261823 BCL2L1 BCL2 like 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735516 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell (human) PMID:19020783|REF_RGD_ID:11353866 12261823 BCL2L1 BCL2 like 1 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:12469194|REF_RGD_ID:11353852 12261846 NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1343021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:18179882|PMID:25741868|PMID:28492532 12261846 NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1343021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 12261846 NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 gene DOID:0112077 nuclear type mitochondrial complex I deficiency 15 ISO RGD:1343021 D RGD:7240710 20190315 OMIM 12261846 NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 gene DOID:0112077 nuclear type mitochondrial complex I deficiency 15 ISO RGD:1343021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 PMID:25741868|PMID:28492532|PMID:28853723 12261846 NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 gene DOID:630 genetic disease ISO RGD:1343021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12261857 CNGA4 cyclic nucleotide gated channel subunit alpha 4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12261857 CNGA4 cyclic nucleotide gated channel subunit alpha 4 gene DOID:630 genetic disease ISO RGD:1603715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261866 BHMT betaine--homocysteine S-methyltransferase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1346951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17119116 12261866 BHMT betaine--homocysteine S-methyltransferase gene DOID:0080074 neural tube defect ISO RGD:1346951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17035141 12261866 BHMT betaine--homocysteine S-methyltransferase gene DOID:630 genetic disease ISO RGD:1346951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261866 BHMT betaine--homocysteine S-methyltransferase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346951 D RGD:9068941 20220616 RGD associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 12261866 BHMT betaine--homocysteine S-methyltransferase gene DOID:893 Wilson disease ISO RGD:1346951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 12261866 BHMT betaine--homocysteine S-methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12261866 BHMT betaine--homocysteine S-methyltransferase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23665415 12261866 BHMT betaine--homocysteine S-methyltransferase gene DOID:9667 placental abruption ISO RGD:1346951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17376725 12261881 CENPF centromere protein F gene DOID:0080600 COVID-19 ISO RGD:1352971 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12261881 CENPF centromere protein F gene DOID:0110595 Stromme syndrome ISO RGD:1352971 D RGD:7240710 20190315 OMIM 12261881 CENPF centromere protein F gene DOID:0110595 Stromme syndrome ISO RGD:1352971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stromme syndrome PMID:25564561|PMID:25741868|PMID:25741878|PMID:26820108|PMID:28407396|PMID:28492532|PMID:8261651 12261881 CENPF centromere protein F gene DOID:10907 microcephaly ISO RGD:1352971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12261881 CENPF centromere protein F gene DOID:12930 dilated cardiomyopathy ISO RGD:1623040 D RGD:9068941 20220825 MouseDO 12261881 CENPF centromere protein F gene DOID:1540 parathyroid carcinoma ISO RGD:1352971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12261881 CENPF centromere protein F gene DOID:630 genetic disease ISO RGD:1352971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12261881 CENPF centromere protein F gene DOID:684 hepatocellular carcinoma ISO RGD:1352971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12261881 CENPF centromere protein F gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 12261881 CENPF centromere protein F gene DOID:9008939 Breast Neoplasms ISO RGD:1352971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 12261881 CENPF centromere protein F gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12261881 CENPF centromere protein F gene DOID:9266 cystinuria ISO RGD:1352971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystinuria PMID:25741868 12261905 MEP1A meprin A subunit alpha gene DOID:630 genetic disease ISO RGD:735747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261905 MEP1A meprin A subunit alpha gene DOID:9002928 Colonic Neoplasms ISO RGD:735747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12261923 IDO2 indoleamine 2,3-dioxygenase 2 gene DOID:5082 liver cirrhosis ISO RGD:1602972 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism PMID:32289347 12261923 IDO2 indoleamine 2,3-dioxygenase 2 gene DOID:630 genetic disease ISO RGD:1602972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261923 IDO2 indoleamine 2,3-dioxygenase 2 gene DOID:9005930 Endotoxemia ISO RGD:1316595 D RGD:9068941 20201022 RGD PMID:24930766|REF_RGD_ID:39939032 12261923 IDO2 indoleamine 2,3-dioxygenase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1602972 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism PMID:32289347 12261949 SCLT1 sodium channel and clathrin linker 1 gene DOID:0060340 ciliopathy ISO RGD:1617550 D RGD:9068941 20220825 MouseDO 12261949 SCLT1 sodium channel and clathrin linker 1 gene DOID:0060382 orofaciodigital syndrome IX ISO RGD:731355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome IX 12261949 SCLT1 sodium channel and clathrin linker 1 gene DOID:0080171 esophageal atresia/tracheoesophageal fistula ISO RGD:731355 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula PMID:25741868|PMID:28492532 12261949 SCLT1 sodium channel and clathrin linker 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1617550 D RGD:9068941 20220825 MouseDO OMIM:263200 12261949 SCLT1 sodium channel and clathrin linker 1 gene DOID:11782 astigmatism ISO RGD:731355 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Astigmatism 12261949 SCLT1 sodium channel and clathrin linker 1 gene DOID:630 genetic disease ISO RGD:731355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12261949 SCLT1 sodium channel and clathrin linker 1 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:731355 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:25741868|PMID:28492532 12261976 NRDE2 NRDE-2, necessary for RNA interference, domain containing gene DOID:0080054 achondrogenesis type IA ISO RGD:1351142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12261976 NRDE2 NRDE-2, necessary for RNA interference, domain containing gene DOID:0081324 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss ISO RGD:1351142 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss PMID:35861243 12261976 NRDE2 NRDE-2, necessary for RNA interference, domain containing gene DOID:630 genetic disease ISO RGD:1351142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261976 NRDE2 NRDE-2, necessary for RNA interference, domain containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12261994 CENPK centromere protein K gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1605966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 12261994 CENPK centromere protein K gene DOID:630 genetic disease ISO RGD:1605966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12261994 CENPK centromere protein K gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12262009 GYPC glycophorin C gene DOID:0060224 atrial fibrillation ISO RGD:1321115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12262009 GYPC glycophorin C gene DOID:12365 malaria ISO RGD:1321115 D RGD:7240710 20230505 OMIM 12262009 GYPC glycophorin C gene DOID:12365 malaria ISO RGD:1321115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malaria, resistance to PMID:11719395|PMID:12469115|PMID:1991173|PMID:21061946|PMID:5011657|PMID:8157284 12262009 GYPC glycophorin C gene DOID:630 genetic disease ISO RGD:1321115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262030 METTL18 methyltransferase like 18 gene DOID:1540 parathyroid carcinoma ISO RGD:1603373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12262030 METTL18 methyltransferase like 18 gene DOID:630 genetic disease ISO RGD:1603373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262030 METTL18 methyltransferase like 18 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1603373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12262030 METTL18 methyltransferase like 18 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12262056 PHF10 PHD finger protein 10 gene DOID:630 genetic disease ISO RGD:1313192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262084 CPSF1 cleavage and polyadenylation specific factor 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1315001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12262084 CPSF1 cleavage and polyadenylation specific factor 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1315001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12262084 CPSF1 cleavage and polyadenylation specific factor 1 gene DOID:4621 holoprosencephaly ISO RGD:1315001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12262084 CPSF1 cleavage and polyadenylation specific factor 1 gene DOID:630 genetic disease ISO RGD:1315001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262084 CPSF1 cleavage and polyadenylation specific factor 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1315001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12262084 CPSF1 cleavage and polyadenylation specific factor 1 gene DOID:9000382 Myopia 27 ISO RGD:1315001 D RGD:7240710 20200408 OMIM 12262084 CPSF1 cleavage and polyadenylation specific factor 1 gene DOID:9000382 Myopia 27 ISO RGD:1315001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia 27 PMID:28492532|PMID:30689892 12262084 CPSF1 cleavage and polyadenylation specific factor 1 gene DOID:9000918 Disease Progression ISO RGD:1315001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12262125 NCDN neurochondrin gene DOID:0050753 cerebellar ataxia ISO RGD:734133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:33711248 12262125 NCDN neurochondrin gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:734133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12262125 NCDN neurochondrin gene DOID:1059 intellectual disability ISO RGD:734133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:33711248 12262125 NCDN neurochondrin gene DOID:1826 epilepsy ISO RGD:734133 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:33711248 12262125 NCDN neurochondrin gene DOID:630 genetic disease ISO RGD:734133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262125 NCDN neurochondrin gene DOID:9005816 NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS ISO RGD:734133 D RGD:7240710 20220216 OMIM 12262125 NCDN neurochondrin gene DOID:9005816 NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS ISO RGD:734133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with infantile epileptic spasms PMID:25741868|PMID:33711248 12262142 RBM4B RNA binding motif protein 4B gene DOID:1059 intellectual disability ISO RGD:1351687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12262142 RBM4B RNA binding motif protein 4B gene DOID:630 genetic disease ISO RGD:1351687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262142 RBM4B RNA binding motif protein 4B gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1351687 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12262142 RBM4B RNA binding motif protein 4B gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1351687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12262168 EPC2 enhancer of polycomb homolog 2 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1316366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:19904302|PMID:21981781|PMID:23632792 12262168 EPC2 enhancer of polycomb homolog 2 gene DOID:630 genetic disease ISO RGD:1316366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262168 EPC2 enhancer of polycomb homolog 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1316366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 12262187 NELL1 neural EGFL like 1 gene DOID:10283 prostate cancer ISO RGD:733264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12262187 NELL1 neural EGFL like 1 gene DOID:1059 intellectual disability ISO RGD:733264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12262187 NELL1 neural EGFL like 1 gene DOID:2340 craniosynostosis ISO RGD:620998 D RGD:9068941 20200609 RGD PMID:12235118|REF_RGD_ID:633405 12262187 NELL1 neural EGFL like 1 gene DOID:2340 craniosynostosis ISO RGD:733264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14672347 12262187 NELL1 neural EGFL like 1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:733264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17452981 12262187 NELL1 neural EGFL like 1 gene DOID:630 genetic disease ISO RGD:733264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262212 DDX21 DExD-box helicase 21 gene DOID:630 genetic disease ISO RGD:1312763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262231 APBB1IP amyloid beta precursor protein binding family B member 1 interacting protein gene DOID:630 genetic disease ISO RGD:1312445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262231 APBB1IP amyloid beta precursor protein binding family B member 1 interacting protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12262252 RHCG Rh family C glycoprotein gene DOID:0050758 metabolic acidosis ISO RGD:727859 D RGD:9068941 20200609 RGD protein:increased expression:medulla, kidney collecting duct intercalated cell PMID:16144966|REF_RGD_ID:8554685 12262252 RHCG Rh family C glycoprotein gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1345053 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12262252 RHCG Rh family C glycoprotein gene DOID:1074 kidney failure ISO RGD:727859 D RGD:9068941 20200609 RGD protein:altered localization PMID:17652373|REF_RGD_ID:9850158 12262252 RHCG Rh family C glycoprotein gene DOID:2717 Bloom syndrome ISO RGD:1345053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12262252 RHCG Rh family C glycoprotein gene DOID:4500 hypokalemia ISO RGD:727859 D RGD:9068941 20200609 RGD protein:increased expression:outer medulla of kidney PMID:21753075|REF_RGD_ID:9850155 12262252 RHCG Rh family C glycoprotein gene DOID:630 genetic disease ISO RGD:1345053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262252 RHCG Rh family C glycoprotein gene DOID:9005658 Hypoaldosteronism treatment ISO RGD:727859 D RGD:9068941 20200609 RGD PMID:21415155|REF_RGD_ID:9850160 12262252 RHCG Rh family C glycoprotein gene DOID:9256 colorectal cancer ISO RGD:1345053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12262267 FAM20B FAM20B glycosaminoglycan xylosylkinase gene DOID:1540 parathyroid carcinoma ISO RGD:1322474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12262267 FAM20B FAM20B glycosaminoglycan xylosylkinase gene DOID:630 genetic disease ISO RGD:1322474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262267 FAM20B FAM20B glycosaminoglycan xylosylkinase gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1322474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12262267 FAM20B FAM20B glycosaminoglycan xylosylkinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12262282 TMEM185A transmembrane protein 185A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12262282 TMEM185A transmembrane protein 185A gene DOID:12849 autistic disorder ISO RGD:1347995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12262282 TMEM185A transmembrane protein 185A gene DOID:630 genetic disease ISO RGD:1347995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262296 KCNC2 potassium voltage-gated channel subfamily C member 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736950 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12262296 KCNC2 potassium voltage-gated channel subfamily C member 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736950 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 12262296 KCNC2 potassium voltage-gated channel subfamily C member 2 gene DOID:1826 epilepsy susceptibility ISO RGD:736951 D RGD:9068941 20200609 RGD PMID:11124984|REF_RGD_ID:9831375 12262296 KCNC2 potassium voltage-gated channel subfamily C member 2 gene DOID:3068 glioblastoma ISO RGD:736950 D RGD:9068941 20200609 RGD mRNA:splice variant (human) PMID:18474104|REF_RGD_ID:9686067 12262296 KCNC2 potassium voltage-gated channel subfamily C member 2 gene DOID:630 genetic disease ISO RGD:736950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262296 KCNC2 potassium voltage-gated channel subfamily C member 2 gene DOID:9005278 Developmental and Epileptic Encephalopathy 103 ISO RGD:736950 D RGD:7240710 20220629 OMIM 12262296 KCNC2 potassium voltage-gated channel subfamily C member 2 gene DOID:9005278 Developmental and Epileptic Encephalopathy 103 ISO RGD:736950 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 103 PMID:25741868|PMID:28492532|PMID:31972370|PMID:32392612|PMID:34448338|PMID:35314505 12262328 RSPO2 R-spondin 2 gene DOID:0112193 tetraamelia syndrome 2 ISO RGD:1603855 D RGD:7240710 20190605 OMIM 12262328 RSPO2 R-spondin 2 gene DOID:0112193 tetraamelia syndrome 2 ISO RGD:1603855 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Tetraamelia syndrome 2 PMID:25741868|PMID:28492532|PMID:29769720 12262328 RSPO2 R-spondin 2 gene DOID:630 genetic disease ISO RGD:1603855 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12262328 RSPO2 R-spondin 2 gene DOID:9002753 Humerofemoral Hypoplasia with Radiotibial Ray Deficiency ISO RGD:1603855 D RGD:7240710 20190717 OMIM 12262328 RSPO2 R-spondin 2 gene DOID:9002753 Humerofemoral Hypoplasia with Radiotibial Ray Deficiency ISO RGD:1603855 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Humerofemoral hypoplasia with radiotibial ray deficiency PMID:25741868|PMID:28492532|PMID:29769720 12262343 GJA4 gap junction protein alpha 4 gene DOID:0001816 angiosarcoma ISO RGD:731518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 12262343 GJA4 gap junction protein alpha 4 gene DOID:0050792 multiple cutaneous and mucosal venous malformations ISO RGD:731518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous venous malformation PMID:33912852 12262343 GJA4 gap junction protein alpha 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12262343 GJA4 gap junction protein alpha 4 gene DOID:10763 hypertension ISO RGD:731518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16448880 12262343 GJA4 gap junction protein alpha 4 gene DOID:271 hemangioma of liver ISO RGD:731518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatic hemangioma PMID:33912852 12262343 GJA4 gap junction protein alpha 4 gene DOID:3393 coronary artery disease ISO RGD:731518 D RGD:9068941 20200609 RGD DNA:SNP:CDS:1019C>T, amino acid P319S, in men both with and without Diabetes Mellitus, Type 2 (MeSH:D003924) PMID:15059615|REF_RGD_ID:1626412 12262343 GJA4 gap junction protein alpha 4 gene DOID:3393 coronary artery disease ISO RGD:731518 D RGD:9068941 20200609 RGD DNA:SNP:CDS:C allele of 1019C>T, amino acid P319S in men only (p = 0.0047) in a Swiss population PMID:16677656|REF_RGD_ID:1626615 12262343 GJA4 gap junction protein alpha 4 gene DOID:471 skin hemangioma ISO RGD:731518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skin hemangioma PMID:33912852 12262343 GJA4 gap junction protein alpha 4 gene DOID:5199 ureteral obstruction ISO RGD:2691 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney: PMID:12644912|REF_RGD_ID:7207847 12262343 GJA4 gap junction protein alpha 4 gene DOID:5844 myocardial infarction ISO RGD:731518 D RGD:9068941 20200609 RGD PMID:15982495|REF_RGD_ID:1580400 12262343 GJA4 gap junction protein alpha 4 gene DOID:5844 myocardial infarction ISO RGD:731518 D RGD:9068941 20200609 RGD DNA:SNP:CDS:T allele of 1019C>T in Japanese men (p<0.001) PMID:12477941|REF_RGD_ID:1626626 12262343 GJA4 gap junction protein alpha 4 gene DOID:5844 myocardial infarction ISO RGD:731518 D RGD:9068941 20200609 RGD associated with coronary artery disease; DNA:SNP:CDS:C allele of 1019C>T, amino acid P319S (p = 0.0026) in a Swiss population PMID:16677656|REF_RGD_ID:1626615 12262343 GJA4 gap junction protein alpha 4 gene DOID:630 genetic disease ISO RGD:731518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262343 GJA4 gap junction protein alpha 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12262352 TULP4 TUB like protein 4 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1350994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 12262352 TULP4 TUB like protein 4 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1350994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 12262352 TULP4 TUB like protein 4 gene DOID:630 genetic disease ISO RGD:1350994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262376 SNRNP70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1316126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12262376 SNRNP70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:0111076 progressive familial heart block type IB ISO RGD:1316126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 12262376 SNRNP70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:10652 Alzheimer's disease ISO RGD:1316126 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (human) PMID:24023061|REF_RGD_ID:10448959 12262376 SNRNP70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:150 disease of mental health ISO RGD:1316126 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic PMID:22454191|REF_RGD_ID:10448939 12262376 SNRNP70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:630 genetic disease ISO RGD:1316126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262376 SNRNP70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:9008086 Developmental Disabilities ISO RGD:1316126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12262376 SNRNP70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:9074 systemic lupus erythematosus ISO RGD:1316126 D RGD:9068941 20200609 RGD PMID:22454191|REF_RGD_ID:10448939 12262376 SNRNP70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:9074 systemic lupus erythematosus ISO RGD:1316127 D RGD:9068941 20200609 RGD PMID:10940910|REF_RGD_ID:10448935 12262399 GMIP GEM interacting protein gene DOID:630 genetic disease ISO RGD:1344953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262435 DOHH deoxyhypusine hydroxylase gene DOID:630 genetic disease ISO RGD:1606491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262435 DOHH deoxyhypusine hydroxylase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12262435 DOHH deoxyhypusine hydroxylase gene DOID:9004467 Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment ISO RGD:1606491 D RGD:7240710 20221123 OMIM 12262435 DOHH deoxyhypusine hydroxylase gene DOID:9004467 Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment ISO RGD:1606491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment PMID:25741868|PMID:35858628 12262444 MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor gene DOID:1909 melanoma ISO RGD:1322026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12262444 MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor gene DOID:3565 meningioma ISO RGD:1322026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21804547 12262444 MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor gene DOID:4450 renal cell carcinoma ISO RGD:1322026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 12262444 MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor gene DOID:630 genetic disease ISO RGD:1322026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262444 MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor gene DOID:8864 acute monocytic leukemia ISO RGD:1322026 D RGD:9068941 20200609 RGD PMID:7662954|REF_RGD_ID:1598771 12262444 MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor gene DOID:9119 acute myeloid leukemia ISO RGD:1322026 D RGD:7240710 20190315 OMIM 12262444 MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor gene DOID:9119 acute myeloid leukemia ISO RGD:1322026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868 12262470 HYPK huntingtin interacting protein K gene DOID:2717 Bloom syndrome ISO RGD:1604376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12262470 HYPK huntingtin interacting protein K gene DOID:630 genetic disease ISO RGD:1604376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262470 HYPK huntingtin interacting protein K gene DOID:9256 colorectal cancer ISO RGD:1604376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12262478 ZBED2 zinc finger BED-type containing 2 gene DOID:630 genetic disease ISO RGD:1348309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262483 MPZ myelin protein zero gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:737128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1 PMID:10071056|PMID:10084540|PMID:10093067|PMID:10214757|PMID:10329755|PMID:10399750|PMID:10406984|PMID:10463363|PMID:10475757|PMID:1053307|PMID:10533074|PMID:10545037|PMID:10553995|PMID:10581375|PMID:10737979|PMID:10764043|PMID:10835936|PMID:10885340|PMID:10923043|PMID:10965800|PMID:11080236|PMID:11080237|PMID:11160475|PMID:11182278|PMID:11437164|PMID:11438991|PMID:11445635|PMID:11484669|PMID:11545686|PMID:11673479|PMID:11801400|PMID:11835375|PMID:11935267|PMID:12090401|PMID:12207153|PMID:12207932|PMID:12221176|PMID:12242557|PMID:12402337|PMID:12477701|PMID:12497641|PMID:12707985|PMID:12805115|PMID:12807974|PMID:12845552|PMID:12911457|PMID:12940837|PMID:12948789|PMID:12953275|PMID:14638973|PMID:14711881|PMID:14742601|PMID:14871447|PMID:15004559|PMID:15036333|PMID:15050444|PMID:15094849|PMID:15159512|PMID:15170620|PMID:15241803|PMID:15249646|PMID:15326256|PMID:15377707|PMID:15642860|PMID:15716547|PMID:15729519|PMID:16198109|PMID:16199547|PMID:16279991|PMID:16488608|PMID:16495463|PMID:16543539|PMID:16616845|PMID:16616847|PMID:16775239|PMID:16844954|PMID:16987171|PMID:17143884|PMID:17172621|PMID:17294201|PMID:17297707|PMID:17468193|PMID:17576681|PMID:17602703|PMID:17663472|PMID:17915947|PMID:17940173|PMID:18255032|PMID:18337304|PMID:18347322|PMID:18380021|PMID:18380030|PMID:18422810|PMID:18636082|PMID:18663734|PMID:19259128|PMID:19293842|PMID:19454582|PMID:19475438|PMID:19629567|PMID:19691535|PMID:19882637|PMID:19928689|PMID:20215982|PMID:20301384|PMID:20385006|PMID:20456450|PMID:20461396|PMID:20516806|PMID:20544920|PMID:20556410|PMID:20571287|PMID:20621479|PMID:20800346|PMID:20878767|PMID:20937820|PMID:21107784|PMID:21149811|PMID:21256749|PMID:21326314|PMID:21363884|PMID:21504504|PMID:21787890|PMID:21840889|PMID:21940171|PMID:22018721|PMID:22176150|PMID:22222859|PMID:22433810|PMID:22451207|PMID:22622165|PMID:22689911|PMID:22704856|PMID:22734905|PMID:23197742|PMID:23250879|PMID:23279346|PMID:23290023|PMID:23342407|PMID:23649551|PMID:24028194|PMID:24033266|PMID:24053775|PMID:24444136|PMID:24819634|PMID:25025039|PMID:25326637|PMID:25429913|PMID:25448007|PMID:25614874|PMID:25694466|PMID:25720167|PMID:25741868|PMID:26135405|PMID:26234237|PMID:26310628|PMID:26378787|PMID:26392352|PMID:26406915|PMID:26454100|PMID:26467025|PMID:27025386|PMID:27088055|PMID:27164712|PMID:27344971|PMID:27353517|PMID:27614573|PMID:27639257|PMID:27774063|PMID:28286897|PMID:28492532|PMID:29136549|PMID:29465609|PMID:29670817|PMID:29687021|PMID:30677751|PMID:30920665|PMID:31173589|PMID:31211173|PMID:31278453|PMID:31315766|PMID:31372974|PMID:31393079|PMID:31673878|PMID:31827005|PMID:31902012|PMID:32376792|PMID:33179255|PMID:33825325|PMID:34008892|PMID:34539730|PMID:3467805|PMID:6099985|PMID:7504284|PMID:7505151|PMID:7506095|PMID:7511317|PMID:7527371|PMID:7530550|PMID:7550231|PMID:7581451|PMID:7688964|PMID:7693129|PMID:7693130|PMID:7694726|PMID:8644725|PMID:8664899|PMID:8797476|PMID:8800924|PMID:8816708|PMID:8835320|PMID:8844219|PMID:8938258|PMID:8990016|PMID:9168174|PMID:9187667|PMID:9217235|PMID:9452091|PMID:9452099|PMID:9536098|PMID:9588852|PMID:9595994|PMID:9633821|PMID:9888385 12262483 MPZ myelin protein zero gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:737128 D RGD:7240710 20180425 OMIM 12262483 MPZ myelin protein zero gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:737128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome | ClinVar Annotator: match by term: Dejerine-Sottas disease | ClinVar Annotator: match by term: Dejerine-Sottas syndrome, autosomal dominant PMID:10084540|PMID:10399750|PMID:11596785|PMID:11835375|PMID:11935267|PMID:12242557|PMID:12402337|PMID:14711881|PMID:16495463|PMID:17143884|PMID:17576681|PMID:18255032|PMID:20385006|PMID:20461396|PMID:20878767|PMID:20937820|PMID:21363884|PMID:21504504|PMID:22734905|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29687021|PMID:33825325|PMID:34539730|PMID:3467805|PMID:6099985|PMID:7506095|PMID:7530550|PMID:7581451|PMID:7693130|PMID:7694726|PMID:8630052|PMID:8664899|PMID:8816708|PMID:8835320|PMID:9452091|PMID:9536098|PMID:9888385 12262483 MPZ myelin protein zero gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 12262483 MPZ myelin protein zero gene DOID:0050771 pheochromocytoma ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 12262483 MPZ myelin protein zero gene DOID:0050773 paraganglioma ISO RGD:737128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:12807974|PMID:17468193|PMID:23342407|PMID:25741868|PMID:28492532 12262483 MPZ myelin protein zero gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:737128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor PMID:12807974|PMID:17468193|PMID:23342407|PMID:25741868|PMID:28492532 12262483 MPZ myelin protein zero gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12262483 MPZ myelin protein zero gene DOID:0090111 PCWH syndrome ISO RGD:10917 D RGD:9068941 20220825 MouseDO OMIM:609136 12262483 MPZ myelin protein zero gene DOID:0110152 Charcot-Marie-Tooth disease type 1B ISO RGD:737128 D RGD:7240710 20180130 OMIM 12262483 MPZ myelin protein zero gene DOID:0110152 Charcot-Marie-Tooth disease type 1B ISO RGD:737128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1b | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IB | ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY IB PMID:10071056|PMID:10093067|PMID:10214757|PMID:10329755|PMID:10399750|PMID:10475757|PMID:10545037|PMID:10553995|PMID:10581375|PMID:10737979|PMID:10764043|PMID:10835936|PMID:10923043|PMID:10965800|PMID:11080237|PMID:11182278|PMID:11437164|PMID:11438991|PMID:11445635|PMID:11484669|PMID:11545686|PMID:11801400|PMID:11835375|PMID:12090401|PMID:12207153|PMID:12207932|PMID:12221176|PMID:12242557|PMID:12402337|PMID:12477701|PMID:12497641|PMID:12707985|PMID:12805115|PMID:12845552|PMID:12911457|PMID:12940837|PMID:12948789|PMID:12953275|PMID:14638973|PMID:14711881|PMID:15036333|PMID:15050444|PMID:15094849|PMID:15159512|PMID:15170620|PMID:15241803|PMID:15249646|PMID:15377707|PMID:15642860|PMID:16279991|PMID:16488608|PMID:16495463|PMID:16521307|PMID:16543539|PMID:16775239|PMID:17030746|PMID:17143884|PMID:17172621|PMID:17294201|PMID:17915947|PMID:18209201|PMID:18255032|PMID:18337304|PMID:18347322|PMID:18422810|PMID:18636082|PMID:19259128|PMID:19293842|PMID:19475438|PMID:19629567|PMID:19691535|PMID:19882637|PMID:19928689|PMID:20215982|PMID:20301384|PMID:20456450|PMID:20461396|PMID:20556410|PMID:20571287|PMID:20937820|PMID:21107784|PMID:21149811|PMID:21326314|PMID:21787890|PMID:21840889|PMID:22451207|PMID:22689911|PMID:22734905|PMID:23250879|PMID:23290023|PMID:23806086|PMID:24053775|PMID:24088041|PMID:24444136|PMID:25429913|PMID:25614874|PMID:25694466|PMID:25720167|PMID:25741868|PMID:26135405|PMID:26234237|PMID:26257172|PMID:26310628|PMID:26378787|PMID:26392352|PMID:26454100|PMID:26467025|PMID:27088055|PMID:27353517|PMID:27614573|PMID:27639257|PMID:27774063|PMID:28286897|PMID:28492532|PMID:29136549|PMID:29670817|PMID:29687021|PMID:30920665|PMID:31173589|PMID:31211173|PMID:31372974|PMID:31673878|PMID:31827005|PMID:31902012|PMID:32376792|PMID:33179255|PMID:7504284|PMID:7505151|PMID:7506095|PMID:7511317|PMID:7527371|PMID:7550231|PMID:7581451|PMID:7688964|PMID:7693129|PMID:7693130|PMID:7694726|PMID:8310815|PMID:8644725|PMID:8664899|PMID:8797476|PMID:8800924|PMID:8816708|PMID:8835320|PMID:8938258|PMID:8990016|PMID:9168174|PMID:9187667|PMID:9452091|PMID:9452099|PMID:9595994|PMID:9633821|PMID:9888385 12262483 MPZ myelin protein zero gene DOID:0110157 Charcot-Marie-Tooth disease type 2J ISO RGD:737128 D RGD:7240710 20180130 OMIM 12262483 MPZ myelin protein zero gene DOID:0110157 Charcot-Marie-Tooth disease type 2J ISO RGD:737128 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities PMID:10071056|PMID:10329755|PMID:10764043|PMID:10835936|PMID:10923043|PMID:11080237|PMID:11545686|PMID:12207153|PMID:12402337|PMID:12911457|PMID:12948789|PMID:15159512|PMID:15241803|PMID:15326256|PMID:15377707|PMID:16279991|PMID:16775239|PMID:17663472|PMID:18337304|PMID:19629567|PMID:19928689|PMID:20461396|PMID:22433810|PMID:25720167|PMID:25741868|PMID:26234237|PMID:26467025|PMID:28492532|PMID:29465609|PMID:29687021|PMID:31211173|PMID:31827005|PMID:8664899|PMID:9187667|PMID:9452091 12262483 MPZ myelin protein zero gene DOID:0110158 Charcot-Marie-Tooth disease type 2I ISO RGD:737128 D RGD:7240710 20180130 OMIM 12262483 MPZ myelin protein zero gene DOID:0110158 Charcot-Marie-Tooth disease type 2I ISO RGD:737128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2I | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2I PMID:10071056|PMID:10214757|PMID:10329755|PMID:10399750|PMID:10764043|PMID:10835936|PMID:10923043|PMID:11080237|PMID:11545686|PMID:11935267|PMID:12207153|PMID:12242557|PMID:12805115|PMID:12845552|PMID:12911457|PMID:12948789|PMID:14638973|PMID:15159512|PMID:15241803|PMID:15249646|PMID:15377707|PMID:16279991|PMID:16775239|PMID:16987171|PMID:18337304|PMID:19629567|PMID:19928689|PMID:20385006|PMID:20461396|PMID:20556410|PMID:21149811|PMID:22433810|PMID:24053775|PMID:24444136|PMID:25326637|PMID:25720167|PMID:25741868|PMID:26234237|PMID:26310628|PMID:26467025|PMID:27639257|PMID:28286897|PMID:28492532|PMID:29687021|PMID:31211173|PMID:31827005|PMID:31902012|PMID:33179255|PMID:34008892|PMID:3467805|PMID:7506095|PMID:8664899|PMID:9187667|PMID:9452091|PMID:9595994 12262483 MPZ myelin protein zero gene DOID:0110195 Charcot-Marie-Tooth disease type 4E ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelination, severe congenital PMID:10737979|PMID:11545686|PMID:12807974|PMID:12953275|PMID:15094849|PMID:15241803|PMID:17468193|PMID:19454582|PMID:20456450|PMID:23342407|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7527371|PMID:8664899|PMID:9187667 12262483 MPZ myelin protein zero gene DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D ISO RGD:737128 D RGD:7240710 20180130 OMIM 12262483 MPZ myelin protein zero gene DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D ISO RGD:737128 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate D PMID:10071056|PMID:10329755|PMID:10406984|PMID:10737979|PMID:10764043|PMID:10835936|PMID:10923043|PMID:11080237|PMID:11545686|PMID:11673479|PMID:11835375|PMID:12207153|PMID:12402337|PMID:12911457|PMID:12948789|PMID:12953275|PMID:14711881|PMID:15094849|PMID:15159512|PMID:15241803|PMID:15377707|PMID:15642860|PMID:16279991|PMID:16775239|PMID:16987171|PMID:18337304|PMID:19629567|PMID:19691535|PMID:19928689|PMID:20456450|PMID:20461396|PMID:20800346|PMID:24028194|PMID:25614874|PMID:25720167|PMID:25741868|PMID:26135405|PMID:26234237|PMID:26310628|PMID:26392352|PMID:26406915|PMID:26467025|PMID:28492532|PMID:29687021|PMID:31173589|PMID:31211173|PMID:31827005|PMID:32376792|PMID:34008892|PMID:7505151|PMID:7527371|PMID:7581451|PMID:8664899|PMID:8816708|PMID:8990016|PMID:9187667|PMID:9452091|PMID:9633821|PMID:9888385 12262483 MPZ myelin protein zero gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:737128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:20571287|PMID:25694466|PMID:28492532|PMID:7693129 12262483 MPZ myelin protein zero gene DOID:0111206 distal hereditary motor neuronopathy type 2 ISO RGD:737128 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 PMID:10071056|PMID:10329755|PMID:10764043|PMID:10835936|PMID:10923043|PMID:11080237|PMID:12207153|PMID:12911457|PMID:12948789|PMID:15159512|PMID:15377707|PMID:16279991|PMID:16775239|PMID:18337304|PMID:19629567|PMID:19928689|PMID:20461396|PMID:25720167|PMID:25741868|PMID:26234237|PMID:26467025|PMID:28492532|PMID:29687021|PMID:31211173|PMID:31827005|PMID:9452091 12262483 MPZ myelin protein zero gene DOID:1059 intellectual disability ISO RGD:737128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:15729519|PMID:20461396|PMID:25614874|PMID:25741868|PMID:28492532|PMID:7688964 12262483 MPZ myelin protein zero gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737128 D RGD:7240710 20180130 OMIM 12262483 MPZ myelin protein zero gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10071056|PMID:10093067|PMID:10214757|PMID:10329755|PMID:10399750|PMID:10406984|PMID:10463363|PMID:10475757|PMID:10533074|PMID:10545037|PMID:10553995|PMID:10581375|PMID:10737979|PMID:10764043|PMID:10835936|PMID:10885340|PMID:10923043|PMID:10965800|PMID:11080236|PMID:11080237|PMID:11085599|PMID:11160475|PMID:11437164|PMID:11484669|PMID:11545686|PMID:11673479|PMID:11701152|PMID:11801400|PMID:11835375|PMID:11935267|PMID:12090401|PMID:12207153|PMID:12207932|PMID:12221176|PMID:12242557|PMID:12402337|PMID:12477701|PMID:12497641|PMID:12707985|PMID:12805115|PMID:12807974|PMID:12845552|PMID:12911457|PMID:12940837|PMID:12948789|PMID:12953275|PMID:14638973|PMID:14711881|PMID:14742601|PMID:14871447|PMID:15004559|PMID:15036333|PMID:15050444|PMID:15094849|PMID:15159512|PMID:15170620|PMID:15241803|PMID:15261887|PMID:15377707|PMID:15642860|PMID:15729519|PMID:16198109|PMID:16279991|PMID:16488608|PMID:16495463|PMID:16521307|PMID:16543539|PMID:16616845|PMID:16616847|PMID:16775239|PMID:16987171|PMID:17030746|PMID:17143884|PMID:17294201|PMID:17297707|PMID:17468193|PMID:17576681|PMID:17663472|PMID:17915947|PMID:17940173|PMID:18209201|PMID:18255032|PMID:18337304|PMID:18347322|PMID:18380018|PMID:18380021|PMID:18380030|PMID:18422810|PMID:18636082|PMID:18663734|PMID:19259128|PMID:19293842|PMID:19454582|PMID:19475438|PMID:19629567|PMID:19691535|PMID:19882637|PMID:19918771|PMID:19928689|PMID:20215982|PMID:20301384|PMID:20385006|PMID:20456450|PMID:20461396|PMID:20516806|PMID:20544920|PMID:20556410|PMID:20571287|PMID:20621479|PMID:20800346|PMID:20937820|PMID:21107784|PMID:21149811|PMID:21256749|PMID:21326314|PMID:21503568|PMID:21840889|PMID:21940171|PMID:22018721|PMID:22176150|PMID:22222859|PMID:22433810|PMID:22451207|PMID:22622165|PMID:22704856|PMID:22734905|PMID:23197742|PMID:23279346|PMID:23290023|PMID:23342407|PMID:23649551|PMID:23806086|PMID:24028194|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24444136|PMID:24819634|PMID:25025039|PMID:25388615|PMID:25429913|PMID:25430934|PMID:25614874|PMID:25694466|PMID:25720167|PMID:25741868|PMID:26135405|PMID:26234237|PMID:26257172|PMID:26310628|PMID:26392352|PMID:26406915|PMID:26454100|PMID:26467025|PMID:27088055|PMID:27527004|PMID:27614573|PMID:27639257|PMID:28286897|PMID:28492532|PMID:29136549|PMID:29465609|PMID:29687021|PMID:30677751|PMID:30920665|PMID:31173589|PMID:31211173|PMID:31278453|PMID:31372974|PMID:31827005|PMID:31902012|PMID:32376792|PMID:33179255|PMID:34008892|PMID:7504284|PMID:7505151|PMID:7506095|PMID:7511317|PMID:7527371|PMID:7530774|PMID:7550231|PMID:7581451|PMID:7688964|PMID:7693129|PMID:7693130|PMID:7694726|PMID:8644725|PMID:8664899|PMID:8797476|PMID:8800924|PMID:8816708|PMID:8835320|PMID:8844219|PMID:8990016|PMID:9187667|PMID:9217235|PMID:9452091|PMID:9452099|PMID:9536098|PMID:9595994|PMID:9633821|PMID:9888385 12262483 MPZ myelin protein zero gene DOID:11446 sciatic neuropathy treatment ISO RGD:3109 D RGD:9068941 20200609 RGD PMID:23545781|REF_RGD_ID:9685778 12262483 MPZ myelin protein zero gene DOID:11720 distal myopathy ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type PMID:10545037|PMID:10581375|PMID:10737979|PMID:11437164|PMID:12221176|PMID:12477701|PMID:19293842|PMID:20215982|PMID:20461396|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29136549|PMID:29687021|PMID:31211173|PMID:31372974|PMID:7688964|PMID:8644725|PMID:8797476 12262483 MPZ myelin protein zero gene DOID:1540 parathyroid carcinoma ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12262483 MPZ myelin protein zero gene DOID:231 motor neuron disease ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:25741868 12262483 MPZ myelin protein zero gene DOID:2477 motor peripheral neuropathy ISO RGD:737128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12262483 MPZ myelin protein zero gene DOID:2491 sensory peripheral neuropathy ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensory neuropathy PMID:10545037|PMID:10581375|PMID:10737979|PMID:11437164|PMID:12221176|PMID:12477701|PMID:19293842|PMID:20215982|PMID:20461396|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29136549|PMID:29687021|PMID:31211173|PMID:31372974|PMID:7688964|PMID:8644725|PMID:8797476 12262483 MPZ myelin protein zero gene DOID:574 peripheral nervous system disease ISO RGD:737128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:11545686|PMID:11835375|PMID:12402337|PMID:25741868|PMID:26310628|PMID:28492532|PMID:7505151|PMID:9633821 12262483 MPZ myelin protein zero gene DOID:630 genetic disease ISO RGD:737128 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10071056|PMID:10084540|PMID:10329755|PMID:10545037|PMID:10581375|PMID:10737979|PMID:10764043|PMID:10835936|PMID:10923043|PMID:11080237|PMID:11437164|PMID:11445635|PMID:11545686|PMID:11673479|PMID:12207153|PMID:12207932|PMID:12221176|PMID:12402337|PMID:12477701|PMID:12911457|PMID:12948789|PMID:14638973|PMID:14711881|PMID:14871447|PMID:15004559|PMID:15050444|PMID:15159512|PMID:15170620|PMID:15249646|PMID:15377707|PMID:15642860|PMID:15729519|PMID:16252242|PMID:16279991|PMID:16488608|PMID:16775239|PMID:16844954|PMID:17297707|PMID:17576681|PMID:17602703|PMID:17915947|PMID:18337304|PMID:18380030|PMID:19259128|PMID:19293842|PMID:19629567|PMID:19882637|PMID:19928689|PMID:20215982|PMID:20301384|PMID:20456450|PMID:20461396|PMID:20556410|PMID:21149811|PMID:22222859|PMID:22704856|PMID:25448007|PMID:25614874|PMID:25720167|PMID:25741868|PMID:26135405|PMID:26234237|PMID:26310628|PMID:26392352|PMID:26467025|PMID:27088055|PMID:27614573|PMID:27639257|PMID:28286897|PMID:28492532|PMID:29136549|PMID:29687021|PMID:30920665|PMID:31173589|PMID:31211173|PMID:31372974|PMID:31827005|PMID:31902012|PMID:32376792|PMID:33179255|PMID:33825325|PMID:34060176|PMID:7527371|PMID:7530295|PMID:7688964|PMID:8644725|PMID:8723697|PMID:8797476|PMID:8816708|PMID:9217235|PMID:9452091|PMID:9536098|PMID:9595994|PMID:9888385 12262483 MPZ myelin protein zero gene DOID:870 neuropathy ISO RGD:737128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:11545686|PMID:11835375|PMID:12402337|PMID:25741868|PMID:26310628|PMID:28492532|PMID:7505151|PMID:9633821 12262483 MPZ myelin protein zero gene DOID:9000495 Tremor ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:25741868 12262483 MPZ myelin protein zero gene DOID:9002211 Hyperalgesia ISO RGD:737128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16676325 12262483 MPZ myelin protein zero gene DOID:9002955 Nerve Degeneration ISO RGD:737128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16676325 12262483 MPZ myelin protein zero gene DOID:9003626 Paragangliomas 3 ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: Paragangliomas 3 PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 12262483 MPZ myelin protein zero gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 12262483 MPZ myelin protein zero gene DOID:9004832 Congenital Hypomyelinating Neuropathy 2 ISO RGD:737128 D RGD:7240710 20190315 OMIM 12262483 MPZ myelin protein zero gene DOID:9004832 Congenital Hypomyelinating Neuropathy 2 ISO RGD:737128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neuropathy, congenital hypomyelinating, 2 PMID:10319895|PMID:10737979|PMID:11545686|PMID:12953275|PMID:15094849|PMID:15184631|PMID:15241803|PMID:15642860|PMID:20456450|PMID:25614874|PMID:25741868|PMID:26135405|PMID:26392352|PMID:26467025|PMID:28492532|PMID:32376792|PMID:7527371|PMID:8664899|PMID:8816708|PMID:9187667|PMID:9888385 12262483 MPZ myelin protein zero gene DOID:9005417 Charcot-Marie-Tooth Disease, Dominant Intermediate 3 ISO RGD:737128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate 3 PMID:10737979|PMID:11545686|PMID:12953275|PMID:15094849|PMID:15241803|PMID:15642860|PMID:20456450|PMID:25614874|PMID:25741868|PMID:26135405|PMID:26392352|PMID:26467025|PMID:28492532|PMID:32376792|PMID:7527371|PMID:8664899|PMID:9187667|PMID:9888385 12262483 MPZ myelin protein zero gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:737128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:12807974|PMID:17468193|PMID:23342407|PMID:25741868|PMID:28492532 12262483 MPZ myelin protein zero gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737128 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 12262483 MPZ myelin protein zero gene DOID:9008305 Talipes Cavus ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pes cavus PMID:10545037|PMID:10581375|PMID:10737979|PMID:11437164|PMID:12221176|PMID:12477701|PMID:19293842|PMID:20215982|PMID:20461396|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29136549|PMID:29687021|PMID:31211173|PMID:31372974|PMID:7688964|PMID:8644725|PMID:8797476 12262483 MPZ myelin protein zero gene DOID:913 atrophic muscular disease ISO RGD:737128 D RGD:8554872 20221227 ClinVar ClinVar Annotator: match by term: Distal lower limb amyotrophy PMID:10545037|PMID:10581375|PMID:10737979|PMID:11437164|PMID:12221176|PMID:12477701|PMID:19293842|PMID:20215982|PMID:20461396|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29136549|PMID:29687021|PMID:31211173|PMID:31372974|PMID:7688964|PMID:8644725|PMID:8797476 12262483 MPZ myelin protein zero gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 12262483 MPZ myelin protein zero gene DOID:9277 primary cerebellar degeneration ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorimotor neuropathy PMID:25741868 12262483 MPZ myelin protein zero gene DOID:9743 diabetic neuropathy treatment ISO RGD:3109 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22158827|REF_RGD_ID:9685782 12262494 ITGA10 integrin subunit alpha 10 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1313014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 12262494 ITGA10 integrin subunit alpha 10 gene DOID:1540 parathyroid carcinoma ISO RGD:1313014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12262494 ITGA10 integrin subunit alpha 10 gene DOID:2256 osteochondrodysplasia IAGP D RGD:12801476 20210603 OMIA Chondrodysplasia, disproportionate short-limbed PMID:7081383|PMID:24086591 12262494 ITGA10 integrin subunit alpha 10 gene DOID:5419 schizophrenia ISO RGD:1313014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12262494 ITGA10 integrin subunit alpha 10 gene DOID:630 genetic disease ISO RGD:1313014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262494 ITGA10 integrin subunit alpha 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12262535 BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 gene DOID:0050439 Usher syndrome ISO RGD:1350405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 12262535 BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1350405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12262535 BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1350405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12262535 BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 gene DOID:630 genetic disease ISO RGD:1350405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262535 BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 gene DOID:9006949 Martsolf Syndrome ISO RGD:1350405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 12262535 BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12262535 BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12262552 SERPINI2 serpin family I member 2 gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:737029 D RGD:9068941 20220825 MouseDO OMIM:260400 12262552 SERPINI2 serpin family I member 2 gene DOID:630 genetic disease ISO RGD:737028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262569 LYRM7 LYR motif containing 7 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1602082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12262569 LYRM7 LYR motif containing 7 gene DOID:0080117 mitochondrial complex III deficiency nuclear type 8 ISO RGD:1602082 D RGD:7240710 20180130 OMIM 12262569 LYRM7 LYR motif containing 7 gene DOID:0080117 mitochondrial complex III deficiency nuclear type 8 ISO RGD:1602082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 8 PMID:24014394|PMID:25741868|PMID:26912632|PMID:28492532 12262569 LYRM7 LYR motif containing 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12262569 LYRM7 LYR motif containing 7 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1602082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 12262569 LYRM7 LYR motif containing 7 gene DOID:630 genetic disease ISO RGD:1602082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12262569 LYRM7 LYR motif containing 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12262569 LYRM7 LYR motif containing 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12262579 PDE4C phosphodiesterase 4C gene DOID:630 genetic disease ISO RGD:737216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262579 PDE4C phosphodiesterase 4C gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:737216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12262612 EFCAB13 EF-hand calcium binding domain 13 gene DOID:630 genetic disease ISO RGD:1606737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262658 CMIP c-Maf inducing protein gene DOID:10485 esophageal atresia ISO RGD:1603294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12262658 CMIP c-Maf inducing protein gene DOID:630 genetic disease ISO RGD:1603294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262658 CMIP c-Maf inducing protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 12262685 HILPDA hypoxia inducible lipid droplet associated gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1607036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12262685 HILPDA hypoxia inducible lipid droplet associated gene DOID:630 genetic disease ISO RGD:1607036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262685 HILPDA hypoxia inducible lipid droplet associated gene DOID:684 hepatocellular carcinoma ISO RGD:1607036 D RGD:9068941 20220901 RGD human cells in mouse model PMID:31142329|REF_RGD_ID:153344574 12262685 HILPDA hypoxia inducible lipid droplet associated gene DOID:684 hepatocellular carcinoma ISO RGD:1607036 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:30205391|REF_RGD_ID:153344577 12262685 HILPDA hypoxia inducible lipid droplet associated gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1607036 D RGD:9068941 20220901 RGD mRNA, protein:increased expression:liver (human) PMID:31142329|REF_RGD_ID:153344574 12262685 HILPDA hypoxia inducible lipid droplet associated gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1607036 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 12262685 HILPDA hypoxia inducible lipid droplet associated gene DOID:9005172 Lung Neoplasms ISO RGD:1607036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12262685 HILPDA hypoxia inducible lipid droplet associated gene DOID:9009121 lung metastasis ISO RGD:1607036 D RGD:9068941 20220901 RGD human cells in mouse model PMID:31142329|REF_RGD_ID:153344574 12262685 HILPDA hypoxia inducible lipid droplet associated gene DOID:9256 colorectal cancer ISO RGD:1607036 D RGD:9068941 20220901 RGD human cells in mouse model PMID:23916472|REF_RGD_ID:153344575 12262685 HILPDA hypoxia inducible lipid droplet associated gene DOID:9256 colorectal cancer disease_progression ISO RGD:1607036 D RGD:9068941 20220901 RGD mRNA:increased expression:colon (human) PMID:23916472|REF_RGD_ID:153344575 12262691 CTNS cystinosin, lysosomal cystine transporter gene DOID:1062 Fanconi syndrome ISO RGD:1308466 D RGD:9068941 20230223 RGD PMID:35695380|REF_RGD_ID:155630629 12262691 CTNS cystinosin, lysosomal cystine transporter gene DOID:1064 cystinosis ISO RGD:1318250 D RGD:7240710 20180130 OMIM 12262691 CTNS cystinosin, lysosomal cystine transporter gene DOID:1064 cystinosis ISO RGD:1318250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cystinoses | ClinVar Annotator: match by term: Cystinosin, defect of | ClinVar Annotator: match by term: Cystinosis | ClinVar Annotator: match by term: Cystinosis, atypical nephropathic | ClinVar Annotator: match by term: Lysosomal cystine transport protein, defect of | ClinVar Annotator: match by term: Nephropathic cystinosis PMID:10444339|PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12110740|PMID:12204010|PMID:12442267|PMID:12644911|PMID:12825071|PMID:15128704|PMID:15365816|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19580442|PMID:19852576|PMID:19863563|PMID:20061170|PMID:20301574|PMID:21305353|PMID:21546516|PMID:21786142|PMID:21963264|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24385851|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:27102039|PMID:27451386|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29127259|PMID:29421779|PMID:29467429|PMID:30554218|PMID:30609409|PMID:30949462|PMID:30957593|PMID:31074291|PMID:31672123|PMID:33532864|PMID:33661986|PMID:33822926|PMID:35738466|PMID:9536098|PMID:9537412|PMID:9792862 12262691 CTNS cystinosin, lysosomal cystine transporter gene DOID:1064 cystinosis susceptibility ISO RGD:1318250 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:9537412|REF_RGD_ID:1601022 12262691 CTNS cystinosin, lysosomal cystine transporter gene DOID:1064 cystinosis treatment ISO RGD:1318250 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:18578013|REF_RGD_ID:12910866 12262691 CTNS cystinosin, lysosomal cystine transporter gene DOID:1184 nephrotic syndrome ISO RGD:1318250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:10556299|PMID:19580442|PMID:24464559|PMID:29127259 12262691 CTNS cystinosin, lysosomal cystine transporter gene DOID:3613 Canavan disease ISO RGD:1318250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 12262691 CTNS cystinosin, lysosomal cystine transporter gene DOID:630 genetic disease ISO RGD:1318250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10444339|PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:10909858|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12204010|PMID:12442267|PMID:12644911|PMID:12825071|PMID:15128704|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19852576|PMID:19863563|PMID:20061170|PMID:20301574|PMID:20352457|PMID:21305353|PMID:21546516|PMID:21786142|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:27102039|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29467429|PMID:30554218|PMID:30849045|PMID:30949462|PMID:30957593|PMID:31074291|PMID:31672123|PMID:33532864|PMID:33661986|PMID:35738466|PMID:7668285|PMID:9536098|PMID:9537412|PMID:9792862 12262691 CTNS cystinosin, lysosomal cystine transporter gene DOID:9002476 Infantile Nephropathic Cystinosis ISO RGD:1318250 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Infantile nephropathic cystinosis PMID:10556299|PMID:11562417|PMID:12204010|PMID:12442267|PMID:19863563|PMID:21786142|PMID:22450360|PMID:25326109|PMID:25741868|PMID:27102039|PMID:28276207|PMID:28492532|PMID:33532864|PMID:35738466|PMID:9537412|PMID:9792862 12262691 CTNS cystinosin, lysosomal cystine transporter gene DOID:9002525 Hereditary Eye Diseases treatment ISO RGD:1318250 D RGD:9068941 20200609 RGD associated with Cystinosis;human gene in a mouse model PMID:26540660|REF_RGD_ID:11354731 12262691 CTNS cystinosin, lysosomal cystine transporter gene DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type ISO RGD:1318250 D RGD:7240710 20180130 OMIM 12262691 CTNS cystinosin, lysosomal cystine transporter gene DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type ISO RGD:1318250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE PMID:10444339|PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:10909858|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12110740|PMID:12204010|PMID:12442267|PMID:12644911|PMID:12825071|PMID:15128704|PMID:15365816|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19852576|PMID:19863563|PMID:20061170|PMID:20301574|PMID:20352457|PMID:21305353|PMID:21546516|PMID:21786142|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:27102039|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29467429|PMID:30554218|PMID:30849045|PMID:30949462|PMID:30957593|PMID:31074291|PMID:31672123|PMID:33532864|PMID:33661986|PMID:33822926|PMID:35738466|PMID:7668285|PMID:9536098|PMID:9537412|PMID:9792862 12262691 CTNS cystinosin, lysosomal cystine transporter gene DOID:9004409 Abderhalden-Kaufmann-Lignac Syndrome ISO RGD:1318250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Abderhalden Lignac Kaufmann disease | ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12110740|PMID:12204010|PMID:12442267|PMID:12644911|PMID:12825071|PMID:15128704|PMID:15365816|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19852576|PMID:19863563|PMID:20061170|PMID:20301574|PMID:21305353|PMID:21546516|PMID:21786142|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:27102039|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29467429|PMID:30554218|PMID:30957593|PMID:31074291|PMID:31672123|PMID:33532864|PMID:33822926|PMID:35738466|PMID:9536098|PMID:9537412|PMID:9792862 12262691 CTNS cystinosin, lysosomal cystine transporter gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1318250 D RGD:7240710 20180130 OMIM 12262691 CTNS cystinosin, lysosomal cystine transporter gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1318250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystinosis, adult, nonnephropathic | ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic PMID:10444339|PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:10909858|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12110740|PMID:12204010|PMID:12442267|PMID:12825071|PMID:15128704|PMID:15365816|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19852576|PMID:19863563|PMID:20061170|PMID:21305353|PMID:21546516|PMID:21786142|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:27102039|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29467429|PMID:30554218|PMID:30849045|PMID:30949462|PMID:30957593|PMID:31074291|PMID:33532864|PMID:33822926|PMID:7668285|PMID:9536098|PMID:9537412|PMID:9792862 12262691 CTNS cystinosin, lysosomal cystine transporter gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1318250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cystinosis, adult, nonnephropathic | ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic | ClinVar Annotator: match by term: Cystinosis, ocular nonnephropathic PMID:10444339|PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:10909858|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12110740|PMID:12204010|PMID:12442267|PMID:12644911|PMID:12825071|PMID:15128704|PMID:15365816|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19852576|PMID:19863563|PMID:20061170|PMID:20301574|PMID:20352457|PMID:21305353|PMID:21546516|PMID:21786142|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:27102039|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29467429|PMID:30554218|PMID:30849045|PMID:30949462|PMID:30957593|PMID:31074291|PMID:31672123|PMID:33532864|PMID:33661986|PMID:33822926|PMID:35738466|PMID:7668285|PMID:9536098|PMID:9537412|PMID:9792862 12262799 TSBP1 testis expressed basic protein 1 gene DOID:0050553 JMP syndrome ISO RGD:1346663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12262845 ZNF529 zinc finger protein 529 gene DOID:630 genetic disease ISO RGD:1353081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262867 ZBTB42 zinc finger and BTB domain containing 42 gene DOID:0081002 Cowden syndrome 6 ISO RGD:2290506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cowden syndrome 6 PMID:28492532 12262867 ZBTB42 zinc finger and BTB domain containing 42 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:2290506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12262867 ZBTB42 zinc finger and BTB domain containing 42 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:2290506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 12262867 ZBTB42 zinc finger and BTB domain containing 42 gene DOID:630 genetic disease ISO RGD:2290506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262867 ZBTB42 zinc finger and BTB domain containing 42 gene DOID:9001595 Lethal Congenital Contracture Syndrome 6 ISO RGD:2290506 D RGD:7240710 20180130 OMIM 12262867 ZBTB42 zinc finger and BTB domain containing 42 gene DOID:9001595 Lethal Congenital Contracture Syndrome 6 ISO RGD:2290506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 6 PMID:25055871|PMID:25741868 12262904 SLC1A1 solute carrier family 1 member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732972 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:31209396|PMID:35663546 12262904 SLC1A1 solute carrier family 1 member 1 gene DOID:0060650 dicarboxylic aminoaciduria ISO RGD:732972 D RGD:7240710 20230517 OMIM 12262904 SLC1A1 solute carrier family 1 member 1 gene DOID:0060650 dicarboxylic aminoaciduria ISO RGD:732972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dicarboxylic aminoaciduria PMID:21123949|PMID:25741868|PMID:28492532 12262904 SLC1A1 solute carrier family 1 member 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:732972 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12262904 SLC1A1 solute carrier family 1 member 1 gene DOID:0070093 schizophrenia 18 ISO RGD:732972 D RGD:7240710 20230517 OMIM 12262904 SLC1A1 solute carrier family 1 member 1 gene DOID:0070093 schizophrenia 18 ISO RGD:732972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia 18 PMID:23341099 12262904 SLC1A1 solute carrier family 1 member 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11906504 12262904 SLC1A1 solute carrier family 1 member 1 gene DOID:13544 low tension glaucoma ISO RGD:11301 D RGD:9068941 20220825 MouseDO OMIM:606657 12262904 SLC1A1 solute carrier family 1 member 1 gene DOID:13544 low tension glaucoma ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28703795 12262904 SLC1A1 solute carrier family 1 member 1 gene DOID:1561 cognitive disorder ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22575539 12262904 SLC1A1 solute carrier family 1 member 1 gene DOID:1826 epilepsy ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151515 12262904 SLC1A1 solute carrier family 1 member 1 gene DOID:289 endometriosis ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12262904 SLC1A1 solute carrier family 1 member 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11906504 12262904 SLC1A1 solute carrier family 1 member 1 gene DOID:4752 multiple system atrophy ISO RGD:11301 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex: PMID:24304186|REF_RGD_ID:11553929 12262904 SLC1A1 solute carrier family 1 member 1 gene DOID:4752 multiple system atrophy ISO RGD:732972 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex: PMID:24304186|REF_RGD_ID:11553929 12262904 SLC1A1 solute carrier family 1 member 1 gene DOID:5419 schizophrenia ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12262904 SLC1A1 solute carrier family 1 member 1 gene DOID:630 genetic disease ISO RGD:732972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262904 SLC1A1 solute carrier family 1 member 1 gene DOID:8466 retinal degeneration ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28703795 12262904 SLC1A1 solute carrier family 1 member 1 gene DOID:9002955 Nerve Degeneration ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28703795 12262904 SLC1A1 solute carrier family 1 member 1 gene DOID:9004462 Atrophy ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22575539 12262904 SLC1A1 solute carrier family 1 member 1 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:732972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 12262904 SLC1A1 solute carrier family 1 member 1 gene DOID:936 brain disease ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22575539 12262920 PSMB4 proteasome 20S subunit beta 4 gene DOID:0050553 JMP syndrome ISO RGD:1344491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:26524591 12262920 PSMB4 proteasome 20S subunit beta 4 gene DOID:0080422 Dravet syndrome ISO RGD:1344491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 12262920 PSMB4 proteasome 20S subunit beta 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1344491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12262920 PSMB4 proteasome 20S subunit beta 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12262920 PSMB4 proteasome 20S subunit beta 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12262920 PSMB4 proteasome 20S subunit beta 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1344491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12262920 PSMB4 proteasome 20S subunit beta 4 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1344491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12262920 PSMB4 proteasome 20S subunit beta 4 gene DOID:5812 MHC class II deficiency ISO RGD:1344491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12262920 PSMB4 proteasome 20S subunit beta 4 gene DOID:630 genetic disease ISO RGD:1344491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12262920 PSMB4 proteasome 20S subunit beta 4 gene DOID:9009202 Proteasome-Associated Autoinflammatory Syndrome 3 ISO RGD:1344491 D RGD:7240710 20190315 OMIM 12262920 PSMB4 proteasome 20S subunit beta 4 gene DOID:9009202 Proteasome-Associated Autoinflammatory Syndrome 3 ISO RGD:1344491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 3 PMID:21953331|PMID:25741868|PMID:26524591|PMID:28492532 12262920 PSMB4 proteasome 20S subunit beta 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12262931 RPS12 ribosomal protein S12 gene DOID:630 genetic disease ISO RGD:735309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262931 RPS12 ribosomal protein S12 gene DOID:9006599 Hypertriglyceridemia ISO RGD:62024 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X;mRNA:increased expression:liver PMID:25294893|REF_RGD_ID:11039460 12262941 EMC4 ER membrane protein complex subunit 4 gene DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy ISO RGD:1605682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy 12262941 EMC4 ER membrane protein complex subunit 4 gene DOID:2717 Bloom syndrome ISO RGD:1605682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12262941 EMC4 ER membrane protein complex subunit 4 gene DOID:630 genetic disease ISO RGD:1605682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12262941 EMC4 ER membrane protein complex subunit 4 gene DOID:9256 colorectal cancer ISO RGD:1605682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12262953 NF1 neurofibromin 1 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:737471 D RGD:7240710 20180130 OMIM 12262953 NF1 neurofibromin 1 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:10336779|PMID:10543400|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10726756|PMID:10862084|PMID:10874316|PMID:11258625|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12807981|PMID:15060124|PMID:15146469|PMID:15207265|PMID:15846561|PMID:16513807|PMID:16786508|PMID:16835897|PMID:16944272|PMID:17406642|PMID:17426081|PMID:18183640|PMID:18546366|PMID:19076627|PMID:19120036|PMID:19142971|PMID:20301288|PMID:21278392|PMID:22034633|PMID:22155606|PMID:22190595|PMID:22965773|PMID:23460398|PMID:23637863|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24357598|PMID:24413922|PMID:24654934|PMID:24789688|PMID:24922668|PMID:25324867|PMID:25370043|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25741868|PMID:25925892|PMID:26056819|PMID:26088551|PMID:26178382|PMID:26467025|PMID:26509978|PMID:26706011|PMID:26740943|PMID:26969325|PMID:27074763|PMID:27322474|PMID:27838393|PMID:28422438|PMID:28492532|PMID:29290338|PMID:29415745|PMID:29483232|PMID:29522274|PMID:29926981|PMID:30287823|PMID:30290804|PMID:30308447|PMID:30530636|PMID:31160754|PMID:31308404|PMID:31370276|PMID:31533797|PMID:31717729|PMID:31766501|PMID:32581362|PMID:33046013|PMID:33540839|PMID:36988593|PMID:7655472|PMID:7981679|PMID:9042399|PMID:9180088|PMID:9463322|PMID:9639526|PMID:9783703 12262953 NF1 neurofibromin 1 gene DOID:0050771 pheochromocytoma ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:11857752|PMID:12095621|PMID:14722917|PMID:1568247|PMID:16380919|PMID:16513807|PMID:16786508|PMID:18546366|PMID:22155606|PMID:22807134|PMID:23244495|PMID:24033266|PMID:25325900|PMID:25741868|PMID:26467025|PMID:26840085|PMID:27322474|PMID:27716896|PMID:28492532|PMID:29290338|PMID:29415745|PMID:29673180|PMID:31595648|PMID:32107864|PMID:8264648|PMID:8499944|PMID:8499945|PMID:8669813|PMID:9003501|PMID:9219873 12262953 NF1 neurofibromin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737471 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:28492532|PMID:30763456 12262953 NF1 neurofibromin 1 gene DOID:0060320 inguinal hernia ISO RGD:737471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inguinal hernia PMID:10712197|PMID:23656349|PMID:23913538|PMID:25741868|PMID:28492532 12262953 NF1 neurofibromin 1 gene DOID:0080199 colorectal carcinoma severity ISO RGD:737471 D RGD:9068941 20210917 RGD protein:increased expression:colorectum (human) PMID:27798892|REF_RGD_ID:150429697 12262953 NF1 neurofibromin 1 gene DOID:0080638 B-cell acute lymphoblastic leukemia ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Acute Lymphoblastic Leukemia PMID:17576681|PMID:23656349|PMID:25741868|PMID:28492532|PMID:9536098 12262953 NF1 neurofibromin 1 gene DOID:0080690 RASopathy ISO RGD:737471 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10712197|PMID:23913538|PMID:25741868|PMID:28492532 12262953 NF1 neurofibromin 1 gene DOID:0111222 centronuclear myopathy 5 ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 5 PMID:10862084|PMID:12552569|PMID:15060124|PMID:15863657|PMID:16944272|PMID:17726231|PMID:24033266|PMID:25741868|PMID:28492532 12262953 NF1 neurofibromin 1 gene DOID:0111252 neurofibromatosis 2 ISO RGD:737471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:25741868 12262953 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:7240710 20180130 OMIM 12262953 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, familial spinal | ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10076878|PMID:10090487|PMID:10220149|PMID:10336779|PMID:10451518|PMID:10494088|PMID:10534774|PMID:10543400|PMID:10587576|PMID:10607834|PMID:10631140|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11292340|PMID:11431704|PMID:11476066|PMID:11704931|PMID:11726231|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12403553|PMID:12438263|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12624144|PMID:12687660|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12808981|PMID:12822827|PMID:12872266|PMID:1302608|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14605872|PMID:14635100|PMID:14722914|PMID:14722917|PMID:1483690|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15257518|PMID:15338462|PMID:15520408|PMID:15523626|PMID:15523642|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15858190|PMID:15863657|PMID:1587809|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16380919|PMID:16397625|PMID:16405917|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16740526|PMID:16773574|PMID:16786508|PMID:16787982|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17114577|PMID:17160901|PMID:1719426|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:1745350|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17889038|PMID:17914445|PMID:17960768|PMID:18000842|PMID:18021924|PMID:18041031|PMID:18055911|PMID:18183042|PMID:18183640|PMID:18196300|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:1937470|PMID:19449407|PMID:19665063|PMID:19738042|PMID:19763152|PMID:19785027|PMID:19823873|PMID:19845691|PMID:19920235|PMID:20015894|PMID:20186797|PMID:20229272|PMID:20301288|PMID:20307669|PMID:20358387|PMID:20513137|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21512413|PMID:2152033|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21618341|PMID:21732117|PMID:21822264|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22159552|PMID:22190595|PMID:22207399|PMID:22222937|PMID:22241097|PMID:22406018|PMID:22608206|PMID:22617876|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22837079|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23175693|PMID:23222849|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23417386|PMID:23460398|PMID:23532973|PMID:23583981|PMID:23621909|PMID:23624750|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:2411134|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24451118|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24676424|PMID:24676943|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:24958239|PMID:25074460|PMID:25156439|PMID:25166435|PMID:25205021|PMID:25211147|PMID:25234363|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25520849|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25624686|PMID:25631097|PMID:25640679|PMID:25733387|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25834617|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329 12262953 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, familial spinal | ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:26017449|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26189818|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26822949|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27234610|PMID:27305697|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27629806|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27959697|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28152038|PMID:28422438|PMID:28492532|PMID:28529006|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28924536|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29471550|PMID:29483232|PMID:2948975|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29588991|PMID:29618358|PMID:29620724|PMID:29625052|PMID:29673180|PMID:29680440|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30098238|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30124220|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30828344|PMID:30877234|PMID:30977107|PMID:31031587|PMID:31048186|PMID:31066482|PMID:31130284|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31397088|PMID:31422574|PMID:31443423|PMID:31476437|PMID:31507634|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31690835|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31836666|PMID:31868168|PMID:31874108|PMID:31882575|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32133419|PMID:32359129|PMID:32427313|PMID:32533764|PMID:32552793|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32575496|PMID:32581362|PMID:32582540|PMID:32761593|PMID:32860008|PMID:32873259|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33794220|PMID:33804961|PMID:33877690|PMID:33911094|PMID:33919865|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34392670|PMID:34418705|PMID:34427956|PMID:34439939|PMID:34489640|PMID:34598035|PMID:34646065|PMID:34694046|PMID:34707296|PMID:34782607|PMID:34887559|PMID:34906502|PMID:34988040|PMID:35024939|PMID:35039564|PMID:35091509|PMID:35101336|PMID:35264596|PMID:35353986|PMID:35836575|PMID:35885913|PMID:36988593|PMID:4633999|PMID:7311297|PMID:7581973|PMID:7586657|PMID:7607663|PMID:7633431|PMID:7643367|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8034304|PMID:8069310|PMID:8069315|PMID:8081387|PMID:8099055|PMID:8116612|PMID:8118468|PMID:8242079|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8931693|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9101303|PMID:9109662|PMID:9132486|PMID:9150739|PMID:9177273|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9452037|PMID:9463322|PMID:9475595|PMID:9529361|PMID:9536098|PMID:9544853|PMID:9545275|PMID:9639526|PMID:9643287|PMID:9654211|PMID:9668168 12262953 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, familial spinal | ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:9687500|PMID:9691142|PMID:9783703 12262953 NF1 neurofibromin 1 gene DOID:0111627 DOORS syndrome ISO RGD:737471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: DOORS syndrome PMID:11857752|PMID:12095621|PMID:14722917|PMID:1568247|PMID:16380919|PMID:16513807|PMID:16786508|PMID:18546366|PMID:22155606|PMID:22807134|PMID:23244495|PMID:24033266|PMID:25325900|PMID:25741868|PMID:26467025|PMID:26840085|PMID:27322474|PMID:27716896|PMID:28492532|PMID:29290338|PMID:29415745|PMID:29673180|PMID:31595648|PMID:32107864|PMID:8264648|PMID:8499944|PMID:8499945|PMID:8669813|PMID:9003501|PMID:9219873 12262953 NF1 neurofibromin 1 gene DOID:0111683 neurofibromatosis-Noonan syndrome ISO RGD:737471 D RGD:7240710 20180130 OMIM 12262953 NF1 neurofibromin 1 gene DOID:0111683 neurofibromatosis-Noonan syndrome ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurofibromatosis with Noonan phenotype | ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome PMID:10090487|PMID:10336779|PMID:10451518|PMID:10543400|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10726756|PMID:10862084|PMID:10980545|PMID:11258625|PMID:12112660|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12707950|PMID:12807981|PMID:14569132|PMID:15060124|PMID:15146469|PMID:15207265|PMID:15523642|PMID:1568246|PMID:15863657|PMID:16138229|PMID:16199547|PMID:16479075|PMID:16513807|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16835897|PMID:16944272|PMID:17160901|PMID:17311297|PMID:17426081|PMID:17668375|PMID:17726231|PMID:17914445|PMID:18041031|PMID:18183640|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19221814|PMID:19738042|PMID:19845691|PMID:20301288|PMID:20602485|PMID:21271658|PMID:21354044|PMID:21520333|PMID:21532985|PMID:22034633|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22703879|PMID:22807134|PMID:22962301|PMID:22965773|PMID:23047742|PMID:23404336|PMID:23460398|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24033266|PMID:24218100|PMID:24357598|PMID:24413922|PMID:24463508|PMID:24654934|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24922668|PMID:24951259|PMID:25074460|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25533962|PMID:25541118|PMID:25741868|PMID:25788518|PMID:25877891|PMID:25925892|PMID:26000329|PMID:26056819|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26467025|PMID:26489445|PMID:26510091|PMID:26580448|PMID:26635368|PMID:26706011|PMID:26740943|PMID:26758488|PMID:26908603|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27171602|PMID:27322474|PMID:27482814|PMID:27498913|PMID:27793025|PMID:27838393|PMID:27980226|PMID:27999334|PMID:28422438|PMID:28492532|PMID:28825729|PMID:28873162|PMID:28976792|PMID:29089047|PMID:29290338|PMID:29415745|PMID:29483232|PMID:29522274|PMID:29872168|PMID:29908077|PMID:29926981|PMID:30014477|PMID:30111351|PMID:30190611|PMID:30287823|PMID:30290804|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30877234|PMID:31159747|PMID:31160754|PMID:31308404|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31533797|PMID:31595648|PMID:31717729|PMID:31766501|PMID:31868168|PMID:32566746|PMID:33046013|PMID:33322618|PMID:33372952|PMID:33471991|PMID:33540839|PMID:33562071|PMID:34080803|PMID:34418705|PMID:34427956|PMID:34988040|PMID:35885913|PMID:36988593|PMID:7586657|PMID:7607663|PMID:7655472|PMID:7904209|PMID:7981679|PMID:8544190|PMID:8664912|PMID:9042399|PMID:9109662|PMID:9219684|PMID:9302992|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 12262953 NF1 neurofibromin 1 gene DOID:10126 keratoconus ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 12262953 NF1 neurofibromin 1 gene DOID:10534 stomach cancer ISO RGD:737471 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:10494088|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10726756|PMID:10862084|PMID:11137998|PMID:12112660|PMID:12552569|PMID:12807981|PMID:14569132|PMID:14722917|PMID:15060124|PMID:15146469|PMID:1568246|PMID:15863657|PMID:16199547|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16542390|PMID:16544997|PMID:16835897|PMID:16870183|PMID:16941471|PMID:16944272|PMID:17160901|PMID:17209131|PMID:17311297|PMID:17551851|PMID:17914445|PMID:18021924|PMID:18041031|PMID:18546366|PMID:190611|PMID:19061981|PMID:20301288|PMID:20602485|PMID:21354044|PMID:21532985|PMID:22108604|PMID:22925204|PMID:23010473|PMID:23047742|PMID:23460398|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24033266|PMID:24413922|PMID:24654934|PMID:24789688|PMID:25240281|PMID:25324867|PMID:25325900|PMID:25541118|PMID:25741868|PMID:25810463|PMID:26056819|PMID:26088551|PMID:26230854|PMID:26467025|PMID:26962827|PMID:26969325|PMID:27069254|PMID:27322474|PMID:27838393|PMID:28492532|PMID:28873162|PMID:29290338|PMID:29483232|PMID:29498099|PMID:29618358|PMID:29872168|PMID:29914388|PMID:29926981|PMID:30190611|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:31160754|PMID:31370276|PMID:31533651|PMID:31533797|PMID:31717729|PMID:31730495|PMID:32554297|PMID:36988593|PMID:7607663|PMID:7655472|PMID:7904209|PMID:8834249|PMID:9180088|PMID:9385374|PMID:9463322 12262953 NF1 neurofibromin 1 gene DOID:1059 intellectual disability ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:12807981|PMID:18183640|PMID:19120036|PMID:24357598|PMID:24789688|PMID:25370043|PMID:25533962|PMID:25741868|PMID:26178382|PMID:26706011|PMID:26740943|PMID:28492532|PMID:29522274 12262953 NF1 neurofibromin 1 gene DOID:1059 intellectual disability ISO RGD:737471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:12807981|PMID:18183640|PMID:19120036|PMID:20301288|PMID:24357598|PMID:24789688|PMID:25370043|PMID:25533962|PMID:25741868|PMID:26178382|PMID:26706011|PMID:26740943|PMID:28492532|PMID:29522274 12262953 NF1 neurofibromin 1 gene DOID:10907 microcephaly ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:30308447 12262953 NF1 neurofibromin 1 gene DOID:1115 sarcoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601955 12262953 NF1 neurofibromin 1 gene DOID:11446 sciatic neuropathy ISO RGD:3168 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve: PMID:8847098|REF_RGD_ID:12790590 12262953 NF1 neurofibromin 1 gene DOID:12849 autistic disorder ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15389774 12262953 NF1 neurofibromin 1 gene DOID:12849 autistic disorder susceptibility ISO RGD:737471 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:GXAlu, IVS27AC28.4 (human) PMID:15389774|REF_RGD_ID:12743657 12262953 NF1 neurofibromin 1 gene DOID:1909 melanoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042|PMID:26214590 12262953 NF1 neurofibromin 1 gene DOID:1969 cerebral palsy ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12262953 NF1 neurofibromin 1 gene DOID:219 colon cancer ISO RGD:737471 D RGD:9068941 20210917 RGD mRNA:increased expression:colon (human) PMID:15840687|REF_RGD_ID:150429699 12262953 NF1 neurofibromin 1 gene DOID:2226 myeloproliferative neoplasm ISO RGD:737471 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable PMID:28492532|PMID:35101336 12262953 NF1 neurofibromin 1 gene DOID:224 transient cerebral ischemia ISO RGD:3168 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:astrocyte: PMID:8820972|REF_RGD_ID:12789703 12262953 NF1 neurofibromin 1 gene DOID:2394 ovarian cancer ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532|PMID:30287823|PMID:30290804|PMID:30784236|PMID:33471991 12262953 NF1 neurofibromin 1 gene DOID:3068 glioblastoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 12262953 NF1 neurofibromin 1 gene DOID:3069 malignant astrocytoma ISO RGD:10973 D RGD:9068941 20200609 RGD PMID:10973261|REF_RGD_ID:1302542 12262953 NF1 neurofibromin 1 gene DOID:3069 malignant astrocytoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20176786|PMID:23817572 12262953 NF1 neurofibromin 1 gene DOID:3069 malignant astrocytoma ISO RGD:737471 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:10931370|REF_RGD_ID:12743656 12262953 NF1 neurofibromin 1 gene DOID:3070 high grade glioma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 12262953 NF1 neurofibromin 1 gene DOID:3070 high grade glioma disease_progression ISO RGD:737471 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:26190195|REF_RGD_ID:12789702 12262953 NF1 neurofibromin 1 gene DOID:3192 neurilemmoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 12262953 NF1 neurofibromin 1 gene DOID:3247 rhabdomyosarcoma ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10090487|PMID:10543400|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10862084|PMID:10980545|PMID:11258625|PMID:11857752|PMID:12112660|PMID:12566521|PMID:12746402|PMID:12807981|PMID:1511985|PMID:15627836|PMID:16199547|PMID:16937374|PMID:16944272|PMID:16961930|PMID:17426081|PMID:17576681|PMID:17668375|PMID:18041031|PMID:18484666|PMID:18546366|PMID:19076627|PMID:19221814|PMID:19292874|PMID:19738042|PMID:20015894|PMID:21354044|PMID:22155606|PMID:22190595|PMID:23222849|PMID:23404336|PMID:23460398|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24033266|PMID:24789688|PMID:24932921|PMID:25324867|PMID:25325900|PMID:25741868|PMID:26056819|PMID:26467025|PMID:26478990|PMID:26740943|PMID:26908603|PMID:26969325|PMID:26973730|PMID:27069254|PMID:27074763|PMID:27171602|PMID:27322474|PMID:27482814|PMID:27838393|PMID:27862945|PMID:28422438|PMID:28492532|PMID:28955729|PMID:29522274|PMID:29673180|PMID:29872168|PMID:29914388|PMID:30014477|PMID:31533797|PMID:31717729|PMID:31776437|PMID:32107864|PMID:32860008|PMID:33372952|PMID:34080803|PMID:34694046|PMID:7655472|PMID:8069310|PMID:8099055|PMID:9536098|PMID:9783703 12262953 NF1 neurofibromin 1 gene DOID:3355 fibrosarcoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601955 12262953 NF1 neurofibromin 1 gene DOID:3369 Ewing sarcoma ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ewing sarcoma PMID:10494088|PMID:10607834|PMID:10712197|PMID:11137998|PMID:12112660|PMID:12807981|PMID:15060124|PMID:16479075|PMID:16870183|PMID:17311297|PMID:20301288|PMID:22925204|PMID:23668869|PMID:23913538|PMID:25741868|PMID:25810463|PMID:26467025|PMID:26962827|PMID:27322474|PMID:28492532|PMID:31730495|PMID:36988593|PMID:7607663|PMID:9385374|PMID:9463322 12262953 NF1 neurofibromin 1 gene DOID:3382 liposarcoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601955 12262953 NF1 neurofibromin 1 gene DOID:3840 craniopharyngioma ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniopharyngioma PMID:25741868|PMID:28492532 12262953 NF1 neurofibromin 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:737471 D RGD:9068941 20210521 RGD mRNA:increased expression:lung (human) PMID:30280776|REF_RGD_ID:126925764 12262953 NF1 neurofibromin 1 gene DOID:4851 pilocytic astrocytoma ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pilocytic astrocytoma PMID:25741868 12262953 NF1 neurofibromin 1 gene DOID:4992 optic nerve glioma ISO RGD:737471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Optic nerve glioma PMID:10712197|PMID:16199547|PMID:23913538|PMID:25741868|PMID:28492532|PMID:29483232 12262953 NF1 neurofibromin 1 gene DOID:4992 optic nerve glioma susceptibility ISO RGD:737471 D RGD:9068941 20200609 RGD associated with Neurofibromatosis 1; DNA:mutations:5'end: PMID:21278392|REF_RGD_ID:12789442 12262953 NF1 neurofibromin 1 gene DOID:5078 ganglioglioma ISO RGD:737471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ganglioglioma PMID:10712197|PMID:15523642|PMID:16835897|PMID:16944272|PMID:18546366|PMID:19738042|PMID:23913538|PMID:24357598|PMID:25325900|PMID:25741868|PMID:26467025|PMID:27980226|PMID:28492532|PMID:31371350|PMID:34427956|PMID:34988040|PMID:7607663 12262953 NF1 neurofibromin 1 gene DOID:5151 plexiform neurofibroma ISO RGD:737471 D RGD:9068941 20210528 RGD associated with severe combined immunodeficiency, human cells in mouse model PMID:17335073|REF_RGD_ID:126925763 12262953 NF1 neurofibromin 1 gene DOID:540 strabismus ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Strabismus PMID:21520333|PMID:23656349|PMID:25741868|PMID:28492532|PMID:29089047|PMID:33471991 12262953 NF1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:21520333|PMID:24789688|PMID:25741868|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:32566746|PMID:9691142 12262953 NF1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:21520333|PMID:23913538|PMID:24789688|PMID:25741868|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:32566746|PMID:33471991|PMID:9691142 12262953 NF1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:21520333|PMID:23913538|PMID:24789688|PMID:25741868|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:32566746|PMID:33471991|PMID:35091509|PMID:9691142 12262953 NF1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:21520333|PMID:23913538|PMID:24789688|PMID:25741868|PMID:26467025|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:32566746|PMID:33471991|PMID:35091509|PMID:9691142 12262953 NF1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:23913538|PMID:24789688|PMID:25741868|PMID:26467025|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:31370276|PMID:32566746|PMID:33471991|PMID:35091509|PMID:9691142 12262953 NF1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:23913538|PMID:24789688|PMID:25741868|PMID:26467025|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:31370276|PMID:32566746|PMID:33471991|PMID:35091509|PMID:35264596|PMID:9691142 12262953 NF1 neurofibromin 1 gene DOID:630 genetic disease ISO RGD:737471 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10607834|PMID:10678181|PMID:10712197|PMID:10862084|PMID:10980545|PMID:11258625|PMID:11857752|PMID:12483293|PMID:12807981|PMID:15060124|PMID:1511985|PMID:16835897|PMID:16937374|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17311297|PMID:17576681|PMID:17726231|PMID:17889038|PMID:18041031|PMID:18484666|PMID:18546366|PMID:21031597|PMID:21354044|PMID:23460398|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24932921|PMID:25074460|PMID:25325900|PMID:25356970|PMID:25525159|PMID:25624686|PMID:25741868|PMID:25788518|PMID:26467025|PMID:26514327|PMID:26740943|PMID:26969325|PMID:27069254|PMID:27074763|PMID:27322474|PMID:2783839|PMID:27838393|PMID:28068329|PMID:28152038|PMID:28492532|PMID:28529006|PMID:28955729|PMID:29089047|PMID:29483232|PMID:29618358|PMID:29620724|PMID:29673180|PMID:30014477|PMID:30287823|PMID:30290804|PMID:30308447|PMID:31370276|PMID:31476437|PMID:31717729|PMID:31766501|PMID:31776437|PMID:32005694|PMID:32056211|PMID:32533764|PMID:33673681|PMID:33919865|PMID:34080803|PMID:34427956|PMID:8099055|PMID:9536098|PMID:9783703 12262953 NF1 neurofibromin 1 gene DOID:657 adenoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 12262953 NF1 neurofibromin 1 gene DOID:768 retinoblastoma ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:25741868|PMID:28492532 12262953 NF1 neurofibromin 1 gene DOID:8712 neurofibromatosis ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurofibromatosis | ClinVar Annotator: match by term: Neurofibromatosis type 6 PMID:10678181|PMID:10712197|PMID:14722917|PMID:16199547|PMID:16479075|PMID:16835897|PMID:16941471|PMID:17209131|PMID:17426081|PMID:17551851|PMID:17914445|PMID:18546366|PMID:21354044|PMID:23460398|PMID:23668869|PMID:23913538|PMID:25240281|PMID:25741868|PMID:26467025|PMID:26969325|PMID:27069254|PMID:27838393|PMID:28492532|PMID:29872168|PMID:30530636|PMID:31370276|PMID:31533651|PMID:31533797|PMID:31717729|PMID:36988593|PMID:9150739|PMID:9180088 12262953 NF1 neurofibromin 1 gene DOID:8864 acute monocytic leukemia ISO RGD:737471 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Acute monocytic leukemia PMID:25741868|PMID:28492532|PMID:29290338|PMID:33471991 12262953 NF1 neurofibromin 1 gene DOID:8927 learning disability ISO RGD:10973 D RGD:9068941 20200609 RGD PMID:11279521|REF_RGD_ID:1302541 12262953 NF1 neurofibromin 1 gene DOID:8927 learning disability ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21949590 12262953 NF1 neurofibromin 1 gene DOID:9002182 Cafe au lait Spots, Multiple ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cafe au lait spots, multiple PMID:10543400|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10726756|PMID:10862084|PMID:11857752|PMID:12095621|PMID:14722917|PMID:15146469|PMID:1568247|PMID:15846561|PMID:16380919|PMID:16479075|PMID:16513807|PMID:16786508|PMID:16835897|PMID:16941471|PMID:16944272|PMID:17209131|PMID:17406642|PMID:17551851|PMID:17576681|PMID:17914445|PMID:18484666|PMID:18546366|PMID:19142971|PMID:19845691|PMID:21278392|PMID:21354044|PMID:21520333|PMID:22155606|PMID:22190595|PMID:22807134|PMID:23244495|PMID:23404336|PMID:23460398|PMID:23656349|PMID:23668869|PMID:23913538|PMID:24033266|PMID:24232412|PMID:24789688|PMID:25240281|PMID:25325900|PMID:25403449|PMID:25525159|PMID:25741868|PMID:26056819|PMID:26467025|PMID:26478990|PMID:26840085|PMID:26969325|PMID:27069254|PMID:27074763|PMID:27322474|PMID:27716896|PMID:27838393|PMID:28008555|PMID:28492532|PMID:29290338|PMID:29415745|PMID:29673180|PMID:29872168|PMID:30530636|PMID:31370276|PMID:31533651|PMID:31533797|PMID:31595648|PMID:31717729|PMID:31776437|PMID:32107864|PMID:32126153|PMID:32581362|PMID:33443663|PMID:34080803|PMID:35024939|PMID:36988593|PMID:7581973|PMID:7981679|PMID:8264648|PMID:8499944|PMID:8499945|PMID:8669813|PMID:8837715|PMID:9003501|PMID:9150739|PMID:9180088|PMID:9219873|PMID:9475595|PMID:9536098 12262953 NF1 neurofibromin 1 gene DOID:9002380 Watson Syndrome ISO RGD:737471 D RGD:7240710 20180130 OMIM 12262953 NF1 neurofibromin 1 gene DOID:9002380 Watson Syndrome ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Café-au-lait macules with pulmonary stenosis | ClinVar Annotator: match by term: Pulmonic stenosis with cafe-au-lait spots PMID:10090487|PMID:10336779|PMID:10543400|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10726756|PMID:10862084|PMID:10980545|PMID:11258625|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12807981|PMID:1302608|PMID:14569132|PMID:15060124|PMID:15146469|PMID:15207265|PMID:1568246|PMID:15863657|PMID:16138229|PMID:16199547|PMID:16513807|PMID:16528606|PMID:16542390|PMID:16835897|PMID:16944272|PMID:17160901|PMID:17426081|PMID:17726231|PMID:18041031|PMID:18183640|PMID:18800150|PMID:190611|PMID:19076627|PMID:19120036|PMID:20301288|PMID:20602485|PMID:20844836|PMID:21354044|PMID:21520333|PMID:21532985|PMID:22034633|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22703879|PMID:22962301|PMID:22965773|PMID:23047742|PMID:23460398|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24033266|PMID:24218100|PMID:24357598|PMID:24413922|PMID:24463508|PMID:24654934|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24922668|PMID:25074460|PMID:25324867|PMID:25370043|PMID:25533962|PMID:25541118|PMID:25741868|PMID:25877891|PMID:25925892|PMID:26000329|PMID:26056819|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26467025|PMID:26489445|PMID:26510091|PMID:26580448|PMID:26706011|PMID:26740943|PMID:26969325|PMID:27069254|PMID:27074763|PMID:27322474|PMID:27498913|PMID:27793025|PMID:27838393|PMID:28422438|PMID:28492532|PMID:28825729|PMID:28873162|PMID:28976792|PMID:29089047|PMID:29290338|PMID:29415745|PMID:29483232|PMID:29522274|PMID:29872168|PMID:29908077|PMID:29926981|PMID:30111351|PMID:30190611|PMID:30287823|PMID:30290804|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30877234|PMID:31159747|PMID:31160754|PMID:31308404|PMID:31370276|PMID:31422574|PMID:31533797|PMID:31766501|PMID:32566746|PMID:33046013|PMID:33322618|PMID:33471991|PMID:33540839|PMID:33562071|PMID:35885913|PMID:36988593|PMID:7655472|PMID:7904209|PMID:7981679|PMID:8317503|PMID:9042399|PMID:9654211|PMID:9691142|PMID:9783703 12262953 NF1 neurofibromin 1 gene DOID:9002453 Cafe-au-Lait Spots ISO RGD:737471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cafe-au-lait spot PMID:10607834|PMID:10712197|PMID:12112660|PMID:12807981|PMID:16199547|PMID:16835897|PMID:16944272|PMID:17668375|PMID:19738042|PMID:21520333|PMID:22155606|PMID:22190595|PMID:23404336|PMID:23656349|PMID:23913538|PMID:25324867|PMID:25325900|PMID:25741868|PMID:26467025|PMID:26908603|PMID:26973730|PMID:27171602|PMID:27482814|PMID:28492532|PMID:29089047|PMID:29522274|PMID:31717729|PMID:33372952|PMID:33471991|PMID:34080803 12262953 NF1 neurofibromin 1 gene DOID:9002498 Wallerian Degeneration ISO RGD:3168 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve: PMID:8847098|REF_RGD_ID:12790590 12262953 NF1 neurofibromin 1 gene DOID:9004158 diffuse intrinsic pontine glioma ISO RGD:737471 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma PMID:25741868|PMID:28492532 12262953 NF1 neurofibromin 1 gene DOID:9004217 Nerve Sheath Neoplasms ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20176786|PMID:25240281 12262953 NF1 neurofibromin 1 gene DOID:9005120 Pigmented Nevus ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 12262953 NF1 neurofibromin 1 gene DOID:9005235 Neurofibromatosis, Familial Spinal ISO RGD:737471 D RGD:7240710 20180130 OMIM 12262953 NF1 neurofibromin 1 gene DOID:9005235 Neurofibromatosis, Familial Spinal ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, familial spinal | ClinVar Annotator: match by term: Spinal neurofibromas PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10677298|PMID:10678181|PMID:10712197|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11704931|PMID:11735023|PMID:11857752|PMID:12095621|PMID:12112660|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12807981|PMID:14517963|PMID:14569132|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:1568246|PMID:1568247|PMID:15858190|PMID:15863657|PMID:16138229|PMID:16199547|PMID:16380919|PMID:16479075|PMID:16513807|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16944272|PMID:16961930|PMID:17160901|PMID:17295913|PMID:17311297|PMID:17426081|PMID:1745350|PMID:1757093|PMID:17576681|PMID:17712740|PMID:17726231|PMID:1783401|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18546366|PMID:18800150|PMID:190611|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:20301288|PMID:20602485|PMID:20605257|PMID:2114220|PMID:21271658|PMID:21354044|PMID:21512413|PMID:21520333|PMID:21532985|PMID:22034633|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22207399|PMID:22703879|PMID:22807134|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23047742|PMID:23244495|PMID:23460398|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23913538|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24463508|PMID:24654934|PMID:24676943|PMID:24694336|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25741868|PMID:25810463|PMID:25877891|PMID:25925892|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26580448|PMID:26635368|PMID:26706011|PMID:26740943|PMID:26758488|PMID:26840085|PMID:26962827|PMID:26969325|PMID:27069254|PMID:27074763|PMID:27322474|PMID:27498913|PMID:27716896|PMID:27793025|PMID:27838393|PMID:28130400|PMID:28422438|PMID:28492532|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29290338|PMID:29415745|PMID:29483232|PMID:29522274|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:30014477|PMID:30086788|PMID:30111351|PMID:30190611|PMID:30287823|PMID:30290804|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30877234|PMID:31159747|PMID:31160754|PMID:31308404|PMID:31370276|PMID:31422574|PMID:31533651|PMID:31533797|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31882575|PMID:32107864|PMID:32126153|PMID:32566746|PMID:32980694|PMID:33046013|PMID:33322618|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33674644|PMID:34080803|PMID:34418705|PMID:35024939|PMID:35091509|PMID:35264596|PMID:35885913|PMID:36988593|PMID:7607663|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8669813|PMID:8829638|PMID:8845843|PMID:9003501|PMID:9042399|PMID:9109662|PMID:9132486|PMID:9150739|PMID:9219684|PMID:9219873|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9529361|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 12262953 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11431704|PMID:11459867|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15523626|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16306205|PMID:16380919|PMID:16414076|PMID:16479075|PMID:16513807|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17160901|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19292874|PMID:19449407|PMID:19738042|PMID:19845691|PMID:20186797|PMID:20602485|PMID:20605257|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21838856|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23913538|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24586880|PMID:24654934|PMID:24694336|PMID:24710307|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25541118|PMID:25612910|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27069254|PMID:27074763|PMID:27171602|PMID:27322474|PMID:27482814|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28166811|PMID:28422438|PMID:28492532|PMID:28529006|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29089047|PMID:29100083|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29483232|PMID:29489754|PMID:29522274|PMID:29618358|PMID:29673180|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30014477|PMID:30087692|PMID:30093976|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30977107|PMID:31159747|PMID:31160754|PMID:31206626|PMID:31301733|PMID:31347283|PMID:31370276|PMID:31422574|PMID:31443423|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31882575|PMID:32107864|PMID:32126153|PMID:32566746|PMID:32581362 12262953 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32860008|PMID:33046013|PMID:33121128|PMID:33443663|PMID:33471991|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 12262953 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11431704|PMID:11459867|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15523626|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16306205|PMID:16380919|PMID:16414076|PMID:16479075|PMID:16513807|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17160901|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19292874|PMID:19449407|PMID:19738042|PMID:19845691|PMID:20186797|PMID:20602485|PMID:20605257|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21838856|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23913538|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24586880|PMID:24654934|PMID:24694336|PMID:24710307|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25541118|PMID:25612910|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27069254|PMID:27074763|PMID:27171602|PMID:27322474|PMID:27482814|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27854218|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28166811|PMID:28422438|PMID:28492532|PMID:28529006|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29089047|PMID:29100083|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29483232|PMID:29489754|PMID:29522274|PMID:29618358|PMID:29673180|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30014477|PMID:30087692|PMID:30093976|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30977107|PMID:31159747|PMID:31160754|PMID:31206626|PMID:31301733|PMID:31347283|PMID:31370276|PMID:31422574|PMID:31443423|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31882575|PMID:32107864|PMID:32126153|PMID:32566746 12262953 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32581362|PMID:32860008|PMID:33046013|PMID:33121128|PMID:33443663|PMID:33471991|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 12262953 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11431704|PMID:11459867|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15523626|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16306205|PMID:16380919|PMID:16397625|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17160901|PMID:17187824|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:18021924|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:19321438|PMID:19449407|PMID:19738042|PMID:19823873|PMID:19845691|PMID:19920235|PMID:20186797|PMID:20301288|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21732117|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22426308|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24675358|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25733387|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28166811|PMID:28422438|PMID:28492532|PMID:28529006|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232 12262953 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30192042|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:30531922|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30977107|PMID:31066482|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31347283|PMID:31370276|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31874108|PMID:31882575|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32359129|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32581362|PMID:32582540|PMID:32743991|PMID:32860008|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33673681|PMID:33674644|PMID:34080803|PMID:34392670|PMID:34646065|PMID:34782607|PMID:34860164|PMID:35091509|PMID:35101336|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 12262953 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11431704|PMID:11459867|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15523626|PMID:15523642|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16306205|PMID:16380919|PMID:16397625|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17160901|PMID:17187824|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:18021924|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:19321438|PMID:19449407|PMID:19738042|PMID:19823873|PMID:19845691|PMID:19920235|PMID:20015894|PMID:20186797|PMID:20301288|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21732117|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22426308|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24675358|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25733387|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28166811|PMID:28422438|PMID:28492532|PMID:28529006|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083 12262953 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:30531922|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30877234|PMID:30977107|PMID:31066482|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31874108|PMID:31882575|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32359129|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32581362|PMID:32582540|PMID:32743991|PMID:32860008|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33674644|PMID:34012022|PMID:34080803|PMID:34392670|PMID:34427956|PMID:34646065|PMID:34694046|PMID:34782607|PMID:34860164|PMID:34988040|PMID:35091509|PMID:35101336|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 12262953 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30531922|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30877234|PMID:30977107|PMID:31066482|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31874108|PMID:31882575|PMID:32052251|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32133419|PMID:32359129|PMID:32427313|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32581362|PMID:32582540|PMID:32743991|PMID:32860008|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33804961|PMID:34012022|PMID:34080803|PMID:34392670|PMID:34427956|PMID:34489640|PMID:34646065|PMID:34694046|PMID:34782607|PMID:34860164|PMID:34988040|PMID:35091509|PMID:35101336|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 12262953 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11292340|PMID:11431704|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15523626|PMID:15523642|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16306205|PMID:16380919|PMID:16397625|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17114577|PMID:17160901|PMID:17187824|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:17960768|PMID:18021924|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:19321438|PMID:19449407|PMID:19738042|PMID:19823873|PMID:19845691|PMID:19920235|PMID:20015894|PMID:20186797|PMID:20301288|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21512413|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21732117|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22426308|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24675358|PMID:24676424|PMID:24676943|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25733387|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27305697|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28422438|PMID:28492532|PMID:28529006|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274 12262953 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11292340|PMID:11431704|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15523626|PMID:15523642|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16306205|PMID:16380919|PMID:16397625|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16740526|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17114577|PMID:17160901|PMID:17187824|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:17960768|PMID:18021924|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:19321438|PMID:19449407|PMID:19738042|PMID:19823873|PMID:19845691|PMID:19920235|PMID:20015894|PMID:20186797|PMID:20301288|PMID:20358387|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21512413|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21732117|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22426308|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23624750|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24675358|PMID:24676424|PMID:24676943|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25733387|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26017449|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27305697|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28422438|PMID:28492532|PMID:28529006 12262953 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30531922|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30877234|PMID:30977107|PMID:31066482|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31476437|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31836666|PMID:31874108|PMID:31882575|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32133419|PMID:32359129|PMID:32427313|PMID:32533764|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32581362|PMID:32582540|PMID:32743991|PMID:32860008|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33804961|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34392670|PMID:34418705|PMID:34427956|PMID:34489640|PMID:34598035|PMID:34646065|PMID:34694046|PMID:34707296|PMID:34782607|PMID:34860164|PMID:34887559|PMID:34988040|PMID:35039564|PMID:35091509|PMID:35101336|PMID:35264596|PMID:35353986|PMID:35836575|PMID:35885913|PMID:36988593|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9544853|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 12262953 NF1 neurofibromin 1 gene DOID:9007748 Retinal Neovascularization ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29847659 12262953 NF1 neurofibromin 1 gene DOID:9007769 Pseudarthrosis ISO RGD:3168 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cartilage" PMID:8820972|REF_RGD_ID:12789703 12262953 NF1 neurofibromin 1 gene DOID:9007908 Aortic Coarctation ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Midaortic syndrome PMID:10712197|PMID:10862084|PMID:12552569|PMID:15146469|PMID:16199547|PMID:16513807|PMID:16944272|PMID:17576681|PMID:23637863|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24413922|PMID:24654934|PMID:25074460|PMID:25741868|PMID:26088551|PMID:28492532|PMID:29290338|PMID:29483232|PMID:29926981|PMID:30287823|PMID:30308447|PMID:30530636|PMID:31160754|PMID:36988593|PMID:9536098 12262953 NF1 neurofibromin 1 gene DOID:9007956 Febrile Seizures ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Febrile seizures PMID:21520333|PMID:23656349|PMID:25741868|PMID:28492532|PMID:29089047|PMID:33471991 12262953 NF1 neurofibromin 1 gene DOID:9008086 Developmental Disabilities ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 12262953 NF1 neurofibromin 1 gene DOID:9008342 Johnson Munson Syndrome ISO RGD:737471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aphalangy of the hands and feet, hemivertebrae, and visceral malformations PMID:25741868|PMID:28492532 12262953 NF1 neurofibromin 1 gene DOID:9008763 Femoral Fractures ISO RGD:10973 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cartilage" PMID:8820972|REF_RGD_ID:12789703 12262953 NF1 neurofibromin 1 gene DOID:9119 acute myeloid leukemia ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21441929|PMID:25822087 12262953 NF1 neurofibromin 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:737471 D RGD:9068941 20200609 RGD PMID:12518368|REF_RGD_ID:12754447 12262953 NF1 neurofibromin 1 gene DOID:9119 acute myeloid leukemia severity ISO RGD:737471 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:23460398|REF_RGD_ID:12789444 12262953 NF1 neurofibromin 1 gene DOID:9538 multiple myeloma ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12262953 NF1 neurofibromin 1 gene DOID:962 neurofibroma ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurofibroma PMID:10712197|PMID:12807981|PMID:16199547|PMID:16835897|PMID:16944272|PMID:17103458|PMID:17311297|PMID:18546366|PMID:19449407|PMID:21031597|PMID:23758643|PMID:23913538|PMID:25741868|PMID:25788518|PMID:26467025|PMID:26514327|PMID:27074763|PMID:28068329|PMID:28492532|PMID:28955729|PMID:29618358|PMID:30290804|PMID:31476437|PMID:31533651|PMID:31717729|PMID:31766501|PMID:31776437|PMID:32005694|PMID:32056211|PMID:32533764|PMID:32581362|PMID:34080803|PMID:34427956|PMID:9783703 12263015 LOC484559 zinc finger protein 568 gene DOID:630 genetic disease ISO RGD:1342686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12263065 OR7G13 olfactory receptor family 7 subfamily G member 13 gene DOID:12849 autistic disorder ISO RGD:1348157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12263065 OR7G13 olfactory receptor family 7 subfamily G member 13 gene DOID:630 genetic disease ISO RGD:1348157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12263069 CA8 carbonic anhydrase 8 gene DOID:0050834 CHARGE syndrome ISO RGD:1312313 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:18413373|PMID:19772954|PMID:22258531|PMID:22902603|PMID:28492532 12263069 CA8 carbonic anhydrase 8 gene DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ISO RGD:1312314 D RGD:9068941 20220825 MouseDO OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 12263069 CA8 carbonic anhydrase 8 gene DOID:1059 intellectual disability ISO RGD:1312313 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12263069 CA8 carbonic anhydrase 8 gene DOID:630 genetic disease ISO RGD:1312313 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 12263069 CA8 carbonic anhydrase 8 gene DOID:9005300 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 ISO RGD:1312313 D RGD:7240710 20180130 OMIM 12263069 CA8 carbonic anhydrase 8 gene DOID:9005300 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 ISO RGD:1312313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 PMID:19461874|PMID:21937992|PMID:25741868 12263083 ATXN1 ataxin 1 gene DOID:0050954 spinocerebellar ataxia type 1 ISO RGD:1344585 D RGD:7240710 20180725 OMIM 12263083 ATXN1 ataxin 1 gene DOID:0050954 spinocerebellar ataxia type 1 ISO RGD:1344585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 1 PMID:25741868 12263083 ATXN1 ataxin 1 gene DOID:0060224 atrial fibrillation ISO RGD:1344585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12263083 ATXN1 ataxin 1 gene DOID:1289 neurodegenerative disease ISO RGD:1344585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28182653 12263083 ATXN1 ataxin 1 gene DOID:5419 schizophrenia ISO RGD:1344585 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12263083 ATXN1 ataxin 1 gene DOID:5679 retinal disease ISO RGD:1344585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28182653 12263083 ATXN1 ataxin 1 gene DOID:630 genetic disease ISO RGD:1344585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12263083 ATXN1 ataxin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1344585 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:25741868 12263083 ATXN1 ataxin 1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1344585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11719269|PMID:16122429|PMID:17322884|PMID:18337722 12263106 H2AC1 H2A clustered histone 1 gene DOID:630 genetic disease ISO RGD:1349225 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12263114 B3GAT1 beta-1,3-glucuronyltransferase 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:733365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24211274 12263114 B3GAT1 beta-1,3-glucuronyltransferase 1 gene DOID:0080600 COVID-19 ISO RGD:733365 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12263114 B3GAT1 beta-1,3-glucuronyltransferase 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:733365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12263114 B3GAT1 beta-1,3-glucuronyltransferase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:70880 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:24127863|REF_RGD_ID:14390076 12263114 B3GAT1 beta-1,3-glucuronyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:733365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12263114 B3GAT1 beta-1,3-glucuronyltransferase 1 gene DOID:630 genetic disease ISO RGD:733365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12263114 B3GAT1 beta-1,3-glucuronyltransferase 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12263114 B3GAT1 beta-1,3-glucuronyltransferase 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:733365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12263120 TREH trehalase gene DOID:0060017 CD3epsilon deficiency ISO RGD:736593 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12263120 TREH trehalase gene DOID:0060837 isolated microphthalmia 5 ISO RGD:736593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12263120 TREH trehalase gene DOID:0080690 RASopathy ISO RGD:736593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12263120 TREH trehalase gene DOID:0081330 glycogen storage disease Ib ISO RGD:736593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12263120 TREH trehalase gene DOID:0110651 long QT syndrome 10 ISO RGD:736593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12263120 TREH trehalase gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:736593 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12263120 TREH trehalase gene DOID:0111971 immunodeficiency 18 ISO RGD:736593 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12263120 TREH trehalase gene DOID:0111972 immunodeficiency 19 ISO RGD:736593 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12263120 TREH trehalase gene DOID:0111973 immunodeficiency 17 ISO RGD:736593 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12263120 TREH trehalase gene DOID:630 genetic disease ISO RGD:736593 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12263120 TREH trehalase gene DOID:9001289 Trehalase Deficiency ISO RGD:736593 D RGD:7240710 20180130 OMIM 12263120 TREH trehalase gene DOID:9001289 Trehalase Deficiency ISO RGD:736593 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: alpha, alpha-Trehalase deficiency PMID:25741868|PMID:28406212 12263120 TREH trehalase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:736593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12263120 TREH trehalase gene DOID:9007661 Dwarfism ISO RGD:736593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12263138 LOC489640 solute carrier family 2, facilitated glucose transporter member 5 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:68456 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12263138 LOC489640 solute carrier family 2, facilitated glucose transporter member 5 gene DOID:2843 long QT syndrome ISO RGD:68456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12263138 LOC489640 solute carrier family 2, facilitated glucose transporter member 5 gene DOID:630 genetic disease ISO RGD:68456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12263138 LOC489640 solute carrier family 2, facilitated glucose transporter member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12263138 LOC489640 solute carrier family 2, facilitated glucose transporter member 5 gene DOID:9008939 Breast Neoplasms ISO RGD:68456 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15449313 12263154 C1H9orf85 chromosome 1 C9orf85 homolog gene DOID:630 genetic disease ISO RGD:1605873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1347094 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0050476 Barth syndrome ISO RGD:1347094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0050800 creatine transporter deficiency ISO RGD:1347094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1347094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21115542 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0081078 ectodermal dysplasia and immunodeficiency 1 ISO RGD:1347094 D RGD:7240710 20180130 OMIM 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0081078 ectodermal dysplasia and immunodeficiency 1 ISO RGD:1347094 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 PMID:11047757|PMID:11179023|PMID:11224521|PMID:11242109|PMID:11484156|PMID:11590134|PMID:117248|PMID:12045264|PMID:14726382|PMID:15100680|PMID:15229184|PMID:15833888|PMID:16228229|PMID:16333836|PMID:16379012|PMID:16532398|PMID:16818673|PMID:16950813|PMID:17072331|PMID:17910706|PMID:18179816|PMID:18222329|PMID:18851874|PMID:19903677|PMID:21622647|PMID:24682681|PMID:25068423|PMID:25741868|PMID:26117626|PMID:28993958|PMID:29077208|PMID:30422821|PMID:31965418|PMID:33224153|PMID:8169255 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1347094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0112003 immunodeficiency 33 ISO RGD:1347094 D RGD:7240710 20180130 OMIM 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0112003 immunodeficiency 33 ISO RGD:1347094 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:11047757|PMID:11179023|PMID:11484156|PMID:11590134|PMID:12459250|PMID:15229184|PMID:15356572|PMID:15577852|PMID:15833888|PMID:16532398|PMID:16818673|PMID:16950813|PMID:18179816|PMID:18222329|PMID:25068423|PMID:25741868|PMID:28993958|PMID:29534156|PMID:30422821|PMID:31965418|PMID:33224153|PMID:8169255 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:10588 adrenoleukodystrophy ISO RGD:1347094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1347094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:12305 Bloch-Sulzberger syndrome ISO RGD:1347094 D RGD:7240710 20180130 OMIM 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:12305 Bloch-Sulzberger syndrome ISO RGD:1347094 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Incontinentia pigmenti syndrome PMID:10839543|PMID:11047757|PMID:11179023|PMID:11224521|PMID:11242109|PMID:11484156|PMID:11590134|PMID:18222329|PMID:18350553|PMID:20412081|PMID:20499091|PMID:25741868|PMID:27368913|PMID:31965418|PMID:8169255|PMID:9450877 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:12365 malaria ISO RGD:1347094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10502785|PMID:11601226|PMID:12064920|PMID:15727905|PMID:16329560|PMID:16607506|PMID:1945893|PMID:25741868|PMID:28492532|PMID:29300386|PMID:29339739|PMID:30045279|PMID:30315739|PMID:31489982|PMID:31863082|PMID:3198117|PMID:33051526|PMID:33072997|PMID:34659341|PMID:34762759|PMID:34895177|PMID:35313968|PMID:35840819|PMID:7803800|PMID:8244337|PMID:8471773|PMID:9589612 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:12849 autistic disorder ISO RGD:1347094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:13241 Behcet's disease ISO RGD:1347094 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:1217A>T(D406V)(human) PMID:20412081|REF_RGD_ID:12791269 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:13628 favism ISO RGD:1347094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:10502785|PMID:10627140|PMID:11601226|PMID:12064920|PMID:15727905|PMID:16329560|PMID:16607506|PMID:18046504|PMID:18177777|PMID:1945893|PMID:19589177|PMID:21446359|PMID:25741868|PMID:28492532|PMID:29300386|PMID:29339739|PMID:30045279|PMID:30315739|PMID:31489982|PMID:31862010|PMID:31863082|PMID:3198117|PMID:33051526|PMID:33072997|PMID:34620237|PMID:34659341|PMID:34762759|PMID:34895177|PMID:34989400|PMID:35313968|PMID:35840819|PMID:7803800|PMID:8244337|PMID:8471773|PMID:9589612 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:2237 hepatitis ISO RGD:1620111 D RGD:9068941 20220811 RGD PMID:25173965|PMID:29551768|REF_RGD_ID:153297807|REF_RGD_ID:153305943 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:2729 dyskeratosis congenita ISO RGD:1347094 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:1347094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: G6PD deficiency | ClinVar Annotator: match by term: Glucose-6-phosphate dehydrogenase deficiency PMID:10502785|PMID:11601226|PMID:12064920|PMID:15727905|PMID:16329560|PMID:16607506|PMID:1945893|PMID:25741868|PMID:28492532|PMID:29300386|PMID:29339739|PMID:30045279|PMID:30315739|PMID:31489982|PMID:31863082|PMID:3198117|PMID:33051526|PMID:33072997|PMID:34659341|PMID:34762759|PMID:34895177|PMID:35313968|PMID:35840819|PMID:7803800|PMID:8244337|PMID:8471773|PMID:9589612 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:3156 hypomelanosis of Ito ISO RGD:1347094 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Incontinentia pigmenti syndrome PMID:10839543|PMID:11047757|PMID:11179023|PMID:11224521|PMID:11242109|PMID:11484156|PMID:11590134|PMID:18222329|PMID:18350553|PMID:20412081|PMID:20499091|PMID:25741868|PMID:27368913|PMID:31965418|PMID:8169255|PMID:9450877 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:3571 liver cancer ISO RGD:1347094 D RGD:9068941 20220811 RGD human cells in mouse model PMID:27367027|REF_RGD_ID:153305911 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:607 paraplegia ISO RGD:1347094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:630 genetic disease ISO RGD:1347094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10502785|PMID:11601226|PMID:12064920|PMID:15727905|PMID:16329560|PMID:16607506|PMID:1945893|PMID:25741868|PMID:28492532|PMID:29077208|PMID:29300386|PMID:29339739|PMID:30045279|PMID:30315739|PMID:31489982|PMID:31863082|PMID:3198117|PMID:33051526|PMID:33072997|PMID:34659341|PMID:34762759|PMID:34895177|PMID:35313968|PMID:35840819|PMID:7803800|PMID:8244337|PMID:8471773|PMID:9589612 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:684 hepatocellular carcinoma ISO RGD:1347094 D RGD:9068941 20220811 RGD protein:decreased expression:liver (human) PMID:22176836|PMID:25173965|REF_RGD_ID:153297813|REF_RGD_ID:153305943 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:684 hepatocellular carcinoma ISO RGD:1620111 D RGD:9068941 20220811 RGD PMID:17292824|PMID:29551768|REF_RGD_ID:153297807|REF_RGD_ID:153305945 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1620111 D RGD:9068941 20220811 RGD PMID:22922425|PMID:24971483|REF_RGD_ID:11079569|REF_RGD_ID:153305947 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:8677 perinatal necrotizing enterocolitis treatment ISO RGD:735223 D RGD:9068941 20200609 RGD PMID:17426653|REF_RGD_ID:12791281 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:8927 learning disability ISO RGD:1347094 D RGD:9068941 20200609 RGD associated with Incontinentia Pigmenti;DNA:deletion:exons: PMID:24489960|REF_RGD_ID:12791267 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30737368 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1347094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30737368 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9002139 AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED ISO RGD:1347094 D RGD:7240710 20220810 OMIM 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9002139 AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED ISO RGD:1347094 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED PMID:25741868|PMID:31874111|PMID:35289316 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:735223 D RGD:9068941 20200609 RGD PMID:22381173|REF_RGD_ID:12791280 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9002457 Experimental Arthritis treatment ISO RGD:735223 D RGD:9068941 20200609 RGD PMID:16684367|REF_RGD_ID:12791276 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9002720 Splenomegaly ISO RGD:1347094 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9005172 Lung Neoplasms ISO RGD:1347094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17114358 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9006263 Experimental Pancreatitis treatment ISO RGD:735223 D RGD:9068941 20200609 RGD PMID:19195057|REF_RGD_ID:12791282 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9256 colorectal cancer ISO 1618153 D RGD:9068941 20220811 RGD PMID:28502111|REF_RGD_ID:153305906 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:735223 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9452 fatty liver disease ISO RGD:1620111 D RGD:9068941 20220825 MouseDO OMIM:228100 12263165 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9778 irritable bowel syndrome treatment ISO RGD:735223 D RGD:9068941 20200609 RGD PMID:22428658|REF_RGD_ID:12791275 12263187 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:0080199 colorectal carcinoma ISO RGD:1313885 D RGD:9068941 20200609 RGD DNA:insertion, deletion:exon:c.939_940insA, c.939delA (human) PMID:10637515|REF_RGD_ID:9588975 12263187 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:0080803 cranioectodermal dysplasia 1 ISO RGD:1313885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 PMID:28492532 12263187 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:0111947 immunodeficiency 21 ISO RGD:1313885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12263187 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:12849 autistic disorder ISO RGD:1313885 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19921286 12263187 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:1324 lung cancer susceptibility ISO RGD:1313885 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E346K (rs140693) (human) PMID:18495292|REF_RGD_ID:9588970 12263187 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1313885 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E346K (rs140693) (human) PMID:15205355|REF_RGD_ID:9588976 12263187 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1313885 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS5-140A>G (rs3138355) (human) PMID:25162968|REF_RGD_ID:9588980 12263187 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:6039 uveal melanoma ISO RGD:1313885 D RGD:7240710 20230505 OMIM 12263187 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:6039 uveal melanoma ISO RGD:1313885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Melanoma, uveal, susceptibility to, 1 PMID:28492532|PMID:29760383|PMID:30049810|PMID:30714079|PMID:32239153|PMID:35460607 12263187 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:630 genetic disease ISO RGD:1313885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12263187 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:7148 rheumatoid arthritis no_association ISO RGD:1313885 D RGD:9068941 20200609 RGD DNA:snps:cds, intron:p.E346K, IVS6-218C>T (rs140693, rs2005618) (human) PMID:22505706|REF_RGD_ID:9588978 12263187 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1313885 D RGD:9068941 20200609 RGD DNA:snps:introns:IVS5-140A>G (rs3138355), IVS6-218C>T (rs2005618) (human) PMID:20676650|REF_RGD_ID:9588977 12263187 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:9000676 Tumor Predisposition Syndrome 2 ISO RGD:1313885 D RGD:7240710 20230505 OMIM 12263187 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:9000676 Tumor Predisposition Syndrome 2 ISO RGD:1313885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tumor predisposition syndrome 2 PMID:25741868|PMID:28492532|PMID:29760383|PMID:30049810|PMID:30714079|PMID:31322271|PMID:32239153|PMID:35460607 12263187 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:9002245 Intestinal Neoplasms severity ISO RGD:1313886 D RGD:9068941 20200609 RGD PMID:12130785|REF_RGD_ID:9588981 12263187 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313885 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:30049810|PMID:33871441 12263187 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:1313885 D RGD:9068941 20200609 RGD mRNA:increased expression:colon, rectum (human) PMID:18097604|REF_RGD_ID:9588979 12263187 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:1313885 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.E346K (human) PMID:19469655|REF_RGD_ID:2316846 12263187 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1313885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 12263187 MBD4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:9270 alkaptonuria ISO RGD:1313885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12263218 COMT catechol-O-methyltransferase gene DOID:0050771 pheochromocytoma ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22569243 12263218 COMT catechol-O-methyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12263218 COMT catechol-O-methyltransferase gene DOID:0060041 autism spectrum disorder susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD associated with velocardiofacial syndrome;DNA:polymorphism:cds:rs4680(p.V158M)(human) PMID:25325218|REF_RGD_ID:13451123 12263218 COMT catechol-O-methyltransferase gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:737102 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12263218 COMT catechol-O-methyltransferase gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:737102 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12263218 COMT catechol-O-methyltransferase gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 12263218 COMT catechol-O-methyltransferase gene DOID:0080855 Parkinsonism ISO RGD:2379 D RGD:9068941 20200609 RGD PMID:15698633|REF_RGD_ID:2289785 12263218 COMT catechol-O-methyltransferase gene DOID:0111996 immunodeficiency 51 ISO RGD:737102 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12263218 COMT catechol-O-methyltransferase gene DOID:10283 prostate cancer disease_progression ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M PMID:16126332|REF_RGD_ID:2289720 12263218 COMT catechol-O-methyltransferase gene DOID:10283 prostate cancer no_association ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M PMID:17507624|REF_RGD_ID:2289719 12263218 COMT catechol-O-methyltransferase gene DOID:10283 prostate cancer susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism:cds PMID:16492910|REF_RGD_ID:2289718 12263218 COMT catechol-O-methyltransferase gene DOID:1059 intellectual disability ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12263218 COMT catechol-O-methyltransferase gene DOID:10591 pre-eclampsia ISO RGD:10378 D RGD:9068941 20220825 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 12263218 COMT catechol-O-methyltransferase gene DOID:10763 hypertension ISO RGD:2379 D RGD:9068941 20200609 RGD PMID:14714585|PMID:17510509|REF_RGD_ID:2289787|REF_RGD_ID:8662344 12263218 COMT catechol-O-methyltransferase gene DOID:10763 hypertension ISO RGD:2379 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:17978496|REF_RGD_ID:2289729 12263218 COMT catechol-O-methyltransferase gene DOID:10763 hypertension susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1187G>C, 186C>T PMID:17143180|REF_RGD_ID:2289742 12263218 COMT catechol-O-methyltransferase gene DOID:10933 obsessive-compulsive disorder ISO RGD:737102 D RGD:9068941 20200609 RGD PMID:11840516|REF_RGD_ID:1300383 12263218 COMT catechol-O-methyltransferase gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10490706 12263218 COMT catechol-O-methyltransferase gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.V158M(human) PMID:24035255|REF_RGD_ID:13450946 12263218 COMT catechol-O-methyltransferase gene DOID:1094 attention deficit hyperactivity disorder susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:rs4680(p.V158M)(human) PMID:19946713|REF_RGD_ID:13450945 12263218 COMT catechol-O-methyltransferase gene DOID:1094 attention deficit hyperactivity disorder treatment ISO RGD:737102 D RGD:9068941 20200609 RGD PMID:27121430|REF_RGD_ID:13451120 12263218 COMT catechol-O-methyltransferase gene DOID:11054 urinary bladder cancer ISO RGD:737102 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder, urine PMID:15596044|REF_RGD_ID:2289726 12263218 COMT catechol-O-methyltransferase gene DOID:11198 DiGeorge syndrome ISO RGD:737102 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12263218 COMT catechol-O-methyltransferase gene DOID:11372 megacolon ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12263218 COMT catechol-O-methyltransferase gene DOID:11612 polycystic ovary syndrome ISO RGD:737102 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17535988|REF_RGD_ID:2289711 12263218 COMT catechol-O-methyltransferase gene DOID:12129 bulimia nervosa susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: PMID:21300128|REF_RGD_ID:13451125 12263218 COMT catechol-O-methyltransferase gene DOID:12306 vitiligo ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M (human) PMID:19112571|REF_RGD_ID:8662333 12263218 COMT catechol-O-methyltransferase gene DOID:12306 vitiligo no_association ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M (human) PMID:24915010|REF_RGD_ID:8662336 12263218 COMT catechol-O-methyltransferase gene DOID:12583 velocardiofacial syndrome ISO RGD:737102 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12263218 COMT catechol-O-methyltransferase gene DOID:127 leiomyoma ISO RGD:737102 D RGD:9068941 20200609 RGD protein:increased expression:myometrium PMID:16730007|REF_RGD_ID:2289717 12263218 COMT catechol-O-methyltransferase gene DOID:127 leiomyoma susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD associated with Uterine Neoplasms;DNA:polymorphism: :p.V158M PMID:16443508|REF_RGD_ID:2289780 12263218 COMT catechol-O-methyltransferase gene DOID:12849 autistic disorder ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12263218 COMT catechol-O-methyltransferase gene DOID:12930 dilated cardiomyopathy ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 12263218 COMT catechol-O-methyltransferase gene DOID:12930 dilated cardiomyopathy ISO RGD:737102 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 12263218 COMT catechol-O-methyltransferase gene DOID:13078 eumycotic mycetoma severity ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: (rs4680) (human) PMID:20184498|REF_RGD_ID:8662334 12263218 COMT catechol-O-methyltransferase gene DOID:1380 endometrial cancer ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:12810635|REF_RGD_ID:2289723 12263218 COMT catechol-O-methyltransferase gene DOID:1380 endometrial cancer no_association ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M PMID:15285606|REF_RGD_ID:2289721 12263218 COMT catechol-O-methyltransferase gene DOID:1380 endometrial cancer susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M PMID:17442187|REF_RGD_ID:2289714 12263218 COMT catechol-O-methyltransferase gene DOID:150 disease of mental health ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16780746 12263218 COMT catechol-O-methyltransferase gene DOID:1561 cognitive disorder ISO RGD:10378 D RGD:9068941 20220825 MouseDO 12263218 COMT catechol-O-methyltransferase gene DOID:1561 cognitive disorder ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17123785 12263218 COMT catechol-O-methyltransferase gene DOID:1561 cognitive disorder severity ISO RGD:737102 D RGD:9068941 20200609 RGD associated with Bipolar Disorder;DNA:polymorphism: :p.V158M (human) PMID:16542182|REF_RGD_ID:8662329 12263218 COMT catechol-O-methyltransferase gene DOID:1574 alcohol use disorder ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10395222 12263218 COMT catechol-O-methyltransferase gene DOID:1612 breast cancer ISO RGD:737102 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:17507616|REF_RGD_ID:2289712 12263218 COMT catechol-O-methyltransferase gene DOID:1612 breast cancer disease_progression ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M PMID:17429315|REF_RGD_ID:2289715 12263218 COMT catechol-O-methyltransferase gene DOID:1612 breast cancer no_association ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M PMID:15285606|REF_RGD_ID:2289721 12263218 COMT catechol-O-methyltransferase gene DOID:1612 breast cancer susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M PMID:17562079|REF_RGD_ID:2289710 12263218 COMT catechol-O-methyltransferase gene DOID:1826 epilepsy ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12263218 COMT catechol-O-methyltransferase gene DOID:1935 Bardet-Biedl syndrome ISO RGD:737102 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868 12263218 COMT catechol-O-methyltransferase gene DOID:2213 hemorrhagic disease ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 12263218 COMT catechol-O-methyltransferase gene DOID:2394 ovarian cancer ISO RGD:737102 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:15010821|REF_RGD_ID:2289722 12263218 COMT catechol-O-methyltransferase gene DOID:2394 ovarian cancer no_association ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.V158M PMID:11142424|REF_RGD_ID:2289725 12263218 COMT catechol-O-methyltransferase gene DOID:2394 ovarian cancer susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M PMID:12036914|REF_RGD_ID:2289724 12263218 COMT catechol-O-methyltransferase gene DOID:3312 bipolar disorder ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11772685 12263218 COMT catechol-O-methyltransferase gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism:exon PMID:17220335|REF_RGD_ID:2289716 12263218 COMT catechol-O-methyltransferase gene DOID:4676 uremia ISO RGD:737102 D RGD:9068941 20200609 RGD protein:increased activity:erythrocyte PMID:7437264|REF_RGD_ID:8662343 12263218 COMT catechol-O-methyltransferase gene DOID:5419 schizophrenia ISO RGD:737102 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Schizophrenia | ClinVar Annotator: match by term: Schizophrenia, susceptibility to PMID:10395222|PMID:10459407|PMID:11171904|PMID:11381111|PMID:11502905|PMID:11772685|PMID:11925305|PMID:12192614|PMID:12359690|PMID:12402217|PMID:12436243|PMID:12595695|PMID:12611827|PMID:12716966|PMID:12842306|PMID:14966473|PMID:15169701|PMID:15457404|PMID:15457497|PMID:15645182|PMID:15652872|PMID:15821730|PMID:15824744|PMID:15935994|PMID:16043133|PMID:16130008|PMID:16135635|PMID:16275815|PMID:16513880|PMID:16542388|PMID:17504906|PMID:21280081|PMID:21681106|PMID:25741868|PMID:30208311|PMID:7304673|PMID:7585135|PMID:8807664|PMID:8886163|PMID:8941353|PMID:9110364 12263218 COMT catechol-O-methyltransferase gene DOID:5419 schizophrenia susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: (rs6267) (human) PMID:19881467|REF_RGD_ID:8662335 12263218 COMT catechol-O-methyltransferase gene DOID:5419 schizophrenia treatment ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:rs4680(p.V158M)(human) PMID:26255563|REF_RGD_ID:11353078 12263218 COMT catechol-O-methyltransferase gene DOID:594 panic disorder ISO RGD:737102 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM PMID:10395222|PMID:10459407|PMID:11171904|PMID:11381111|PMID:11502905|PMID:11772685|PMID:11925305|PMID:12192614|PMID:12359690|PMID:12402217|PMID:12436243|PMID:12595695|PMID:12611827|PMID:12716966|PMID:12842306|PMID:14966473|PMID:15169701|PMID:15457404|PMID:15457497|PMID:15645182|PMID:15652872|PMID:15821730|PMID:15824744|PMID:15935994|PMID:16043133|PMID:16130008|PMID:16135635|PMID:16275815|PMID:16513880|PMID:16542388|PMID:17504906|PMID:21280081|PMID:25741868|PMID:7304673|PMID:7585135|PMID:8807664|PMID:8886163|PMID:8941353|PMID:9110364 12263218 COMT catechol-O-methyltransferase gene DOID:612 primary immunodeficiency disease ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12263218 COMT catechol-O-methyltransferase gene DOID:630 genetic disease ISO RGD:737102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12263218 COMT catechol-O-methyltransferase gene DOID:631 fibromyalgia severity ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.V158M(human) PMID:24762091|REF_RGD_ID:13450944 12263218 COMT catechol-O-methyltransferase gene DOID:670 amphetamine abuse ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274053 12263218 COMT catechol-O-methyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341023 12263218 COMT catechol-O-methyltransferase gene DOID:8893 psoriasis ISO RGD:737102 D RGD:9068941 20200609 RGD PMID:24001377|REF_RGD_ID:8662328 12263218 COMT catechol-O-methyltransferase gene DOID:9000081 Lymphatic Metastasis ISO RGD:737102 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:missense mutation:cds:p.V108/158M (human) PMID:10755383|REF_RGD_ID:8662330 12263218 COMT catechol-O-methyltransferase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:10378 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland, cytoplasm PMID:6337293|REF_RGD_ID:2289734 12263218 COMT catechol-O-methyltransferase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18424824 12263218 COMT catechol-O-methyltransferase gene DOID:9000439 Schizophrenia Spectrum and Other Psychotic Disorders ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28195063 12263218 COMT catechol-O-methyltransferase gene DOID:9000641 Pain ISO RGD:2379 D RGD:9068941 20200609 RGD PMID:17084978|REF_RGD_ID:2289747 12263218 COMT catechol-O-methyltransferase gene DOID:9000641 Pain ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561508 12263218 COMT catechol-O-methyltransferase gene DOID:9000641 Pain severity ISO RGD:737102 D RGD:9068941 20200609 RGD associated with Multiple Sclerosis;DNA:polymorphism:cds:rs4680(p.V158M)(human) PMID:24290452|REF_RGD_ID:13450948 12263218 COMT catechol-O-methyltransferase gene DOID:9000998 Brain Injuries ISO RGD:2379 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:17240060|REF_RGD_ID:2289740 12263218 COMT catechol-O-methyltransferase gene DOID:9002211 Hyperalgesia ISO RGD:10378 D RGD:9068941 20200609 RGD PMID:20726980|REF_RGD_ID:8662326 12263218 COMT catechol-O-methyltransferase gene DOID:9002211 Hyperalgesia ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28195063 12263218 COMT catechol-O-methyltransferase gene DOID:9002231 Fetal Growth Retardation ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23667712 12263218 COMT catechol-O-methyltransferase gene DOID:9002304 Prostatic Neoplasms ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12263218 COMT catechol-O-methyltransferase gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:10378 D RGD:9068941 20200609 RGD PMID:25242632|REF_RGD_ID:13450949 12263218 COMT catechol-O-methyltransferase gene DOID:9003392 Neck Pain severity ISO RGD:737102 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:missense mutation:cds:p.V158M (human) PMID:21898113|REF_RGD_ID:8662332 12263218 COMT catechol-O-methyltransferase gene DOID:9003805 Catalepsy ISO RGD:2379 D RGD:9068941 20200609 RGD PMID:12711835|REF_RGD_ID:2289788 12263218 COMT catechol-O-methyltransferase gene DOID:9003871 Venous Thrombosis ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 12263218 COMT catechol-O-methyltransferase gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :324G>A PMID:18064318|REF_RGD_ID:2289709 12263218 COMT catechol-O-methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12263218 COMT catechol-O-methyltransferase gene DOID:9004673 Hearing Loss, Cisplatin-Induced ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19898482 12263218 COMT catechol-O-methyltransferase gene DOID:9005228 Musculoskeletal Pain ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25218601 12263218 COMT catechol-O-methyltransferase gene DOID:9005632 Cocaine-Related Disorders ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18704099 12263218 COMT catechol-O-methyltransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2379 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:12010186|REF_RGD_ID:2289789 12263218 COMT catechol-O-methyltransferase gene DOID:9006281 Temporomandibular Joint Disorders ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25218601 12263218 COMT catechol-O-methyltransferase gene DOID:9006617 Fatigue severity ISO RGD:737102 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:missense mutation:cds:p.V158M (human) PMID:21898113|REF_RGD_ID:8662332 12263218 COMT catechol-O-methyltransferase gene DOID:9007370 Child Behavior Disorders susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD associated with Fetal Growth Retardation; DNA:polymorphism:cds:rs4680(p.V158M)(human) PMID:22070166|REF_RGD_ID:13451124 12263218 COMT catechol-O-methyltransferase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2379 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:21138988|REF_RGD_ID:7241599 12263218 COMT catechol-O-methyltransferase gene DOID:9007661 Dwarfism ISO RGD:737102 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12263218 COMT catechol-O-methyltransferase gene DOID:9008023 Memory Disorders ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28195063 12263218 COMT catechol-O-methyltransferase gene DOID:9008359 Acute Pain susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:polymorphism:cds:p.V158M(human) PMID:25102390|REF_RGD_ID:13450943 12263218 COMT catechol-O-methyltransferase gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:2379 D RGD:9068941 20200609 RGD PMID:16437585|REF_RGD_ID:2289781 12263218 COMT catechol-O-methyltransferase gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:737102 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12263218 COMT catechol-O-methyltransferase gene DOID:9008939 Breast Neoplasms ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15455371|PMID:16077979|PMID:9407957 12263218 COMT catechol-O-methyltransferase gene DOID:9009066 Glucocorticoid Deficiency 5 ISO RGD:737102 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 5 PMID:25741868|PMID:28492532 12263218 COMT catechol-O-methyltransferase gene DOID:9970 obesity susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism:exon PMID:17497175|REF_RGD_ID:2289713 12263238 RPS27A ribosomal protein S27a gene DOID:630 genetic disease ISO RGD:736388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12263238 RPS27A ribosomal protein S27a gene DOID:9000998 Brain Injuries ISO RGD:6489478 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex, hippocampus PMID:17936732|REF_RGD_ID:11041870 12263248 CNTRL centriolin gene DOID:12712 nephronophthisis ISO RGD:1557555 D RGD:9068941 20220825 MouseDO 12263248 CNTRL centriolin gene DOID:630 genetic disease ISO RGD:1313275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12263299 PLK3 polo like kinase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12263299 PLK3 polo like kinase 3 gene DOID:0080600 COVID-19 ISO RGD:1350781 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12263299 PLK3 polo like kinase 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1350781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12263299 PLK3 polo like kinase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12263299 PLK3 polo like kinase 3 gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:1350781 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:14970859|REF_RGD_ID:2299941 12263299 PLK3 polo like kinase 3 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1350781 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15785925|REF_RGD_ID:2299942 12263299 PLK3 polo like kinase 3 gene DOID:630 genetic disease ISO RGD:1350781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12263318 ARRDC5 arrestin domain containing 5 gene DOID:630 genetic disease ISO RGD:1353583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12263325 ERP29 endoplasmic reticulum protein 29 gene DOID:3910 lung adenocarcinoma ISO RGD:735473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 12263325 ERP29 endoplasmic reticulum protein 29 gene DOID:630 genetic disease ISO RGD:735473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12263325 ERP29 endoplasmic reticulum protein 29 gene DOID:684 hepatocellular carcinoma ISO RGD:735473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12263325 ERP29 endoplasmic reticulum protein 29 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 12263325 ERP29 endoplasmic reticulum protein 29 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12263332 ZSWIM2 zinc finger SWIM-type containing 2 gene DOID:630 genetic disease ISO RGD:1322798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12263332 ZSWIM2 zinc finger SWIM-type containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12263351 USP7 ubiquitin specific peptidase 7 gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:1315800 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:25738457|PMID:28492532 12263351 USP7 ubiquitin specific peptidase 7 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1315800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 12263351 USP7 ubiquitin specific peptidase 7 gene DOID:1059 intellectual disability ISO RGD:1315800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12263351 USP7 ubiquitin specific peptidase 7 gene DOID:11054 urinary bladder cancer ISO RGD:1315800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 12263351 USP7 ubiquitin specific peptidase 7 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1315800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 12263351 USP7 ubiquitin specific peptidase 7 gene DOID:5812 MHC class II deficiency ISO RGD:1315800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12263351 USP7 ubiquitin specific peptidase 7 gene DOID:630 genetic disease ISO RGD:1315800 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12263351 USP7 ubiquitin specific peptidase 7 gene DOID:9000141 Autosomal Dominant Intellectual Developmental Disorder 58 ISO RGD:1315800 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 58 PMID:25741868 12263351 USP7 ubiquitin specific peptidase 7 gene DOID:9001064 Hao-Fountain Syndrome ISO RGD:1315800 D RGD:7240710 20200722 OMIM 12263351 USP7 ubiquitin specific peptidase 7 gene DOID:9001064 Hao-Fountain Syndrome ISO RGD:1315800 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hao-Fountain syndrome | ClinVar Annotator: match by term: USP7-related neurodevelopmental disorder PMID:25741868|PMID:26365382|PMID:28492532|PMID:30679821 12263351 USP7 ubiquitin specific peptidase 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12263351 USP7 ubiquitin specific peptidase 7 gene DOID:9003816 Macrocephaly ISO RGD:1315800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868 12263351 USP7 ubiquitin specific peptidase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12263351 USP7 ubiquitin specific peptidase 7 gene DOID:9005603 Muscle Hypotonia ISO RGD:1315800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:25741868 12263390 DLGAP1 DLG associated protein 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:734098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12263390 DLGAP1 DLG associated protein 1 gene DOID:0110880 holoprosencephaly 4 ISO RGD:734098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 4 PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:22125506|PMID:28492532 12263390 DLGAP1 DLG associated protein 1 gene DOID:1059 intellectual disability ISO RGD:734098 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12263390 DLGAP1 DLG associated protein 1 gene DOID:630 genetic disease ISO RGD:734098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12954649 12263390 DLGAP1 DLG associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12263390 DLGAP1 DLG associated protein 1 gene DOID:9008582 Developmental Disease ISO RGD:734098 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12263474 GCAT glycine C-acetyltransferase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12263474 GCAT glycine C-acetyltransferase gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1316396 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12263474 GCAT glycine C-acetyltransferase gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1316396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12263474 GCAT glycine C-acetyltransferase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1316396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12263474 GCAT glycine C-acetyltransferase gene DOID:630 genetic disease ISO RGD:1316396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12263474 GCAT glycine C-acetyltransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12263487 BTBD11 BTB domain containing 11 gene DOID:10283 prostate cancer ISO RGD:1318539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12263487 BTBD11 BTB domain containing 11 gene DOID:630 genetic disease ISO RGD:1318539 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12263487 BTBD11 BTB domain containing 11 gene DOID:9007188 Liver Neoplasms ISO RGD:1318539 D RGD:9068941 20221208 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12263516 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:0060001 withdrawal disorder ISO RGD:732764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15537871 12263516 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:732764 D RGD:9068941 20211203 RGD DNA:SNP: :rs7178270(human) PMID:20587604|REF_RGD_ID:150527839 12263516 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:732764 D RGD:9068941 20220225 RGD DNA:SNP:3'utr: (rs1948)C>T (human) PMID:29416783|REF_RGD_ID:151361155 12263516 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:1596 depressive disorder ISO RGD:2351 D RGD:9068941 20220128 RGD mRNA:decreased expression:habenula: PMID:28420875|REF_RGD_ID:151347550 12263516 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:2717 Bloom syndrome ISO RGD:732764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12263516 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12263516 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732764 D RGD:9068941 20220224 RGD mRNA:increased expression:esophagus (human) PMID:27610024|REF_RGD_ID:151361143 12263516 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:3907 lung squamous cell carcinoma ISO RGD:732764 D RGD:9068941 20211203 RGD mRNA:increased expression:lung PMID:20124469|REF_RGD_ID:150527851 12263516 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:3907 lung squamous cell carcinoma ISO RGD:732764 D RGD:9068941 20220225 RGD DNA:hypomethylation:promoter: PMID:22945651|REF_RGD_ID:151361154 12263516 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:732764 D RGD:9068941 20220224 RGD DNA:SNP:: (rs7178270) (human) PMID:23397474|REF_RGD_ID:151361148 12263516 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:732764 D RGD:9068941 20220224 RGD PMID:25172267|REF_RGD_ID:151361147 12263516 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:3910 lung adenocarcinoma ISO RGD:732764 D RGD:9068941 20211203 RGD mRNA:increased expression:lung PMID:20124469|REF_RGD_ID:150527851 12263516 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:3910 lung adenocarcinoma ISO RGD:732764 D RGD:9068941 20220225 RGD DNA:hypomethylation:promoter: PMID:22945651|REF_RGD_ID:151361154 12263516 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:5409 lung small cell carcinoma ISO RGD:732764 D RGD:9068941 20211203 RGD mRNA:increased expression:lung PMID:20124469|REF_RGD_ID:150527851 12263516 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:630 genetic disease ISO RGD:732764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12263516 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:809 cocaine abuse onset ISO RGD:732764 D RGD:9068941 20211210 RGD DNA:SNP::rs950776(human) PMID:32841724|REF_RGD_ID:150530292 12263516 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:8618 oral cavity cancer susceptibility ISO RGD:732764 D RGD:9068941 20220128 RGD DNA:SNP: :rs578776(human) PMID:24505444|REF_RGD_ID:151347542 12263516 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:9001310 Tobacco Use Disorder ISO RGD:732764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29666375 12263516 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:9004283 Transplant Rejection ISO RGD:2351 D RGD:9068941 20220128 RGD PMID:25121092|REF_RGD_ID:151347544 12263516 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:9005172 Lung Neoplasms ISO RGD:732764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18385738 12263516 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:9255 frontotemporal dementia ISO RGD:732764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia 12263516 CHRNB4 cholinergic receptor nicotinic beta 4 subunit gene DOID:9256 colorectal cancer ISO RGD:732764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12263533 MAB21L2 mab-21 like 2 gene DOID:0081151 common variable immunodeficiency 8 ISO RGD:1323458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity PMID:26206937|PMID:26768763|PMID:28492532 12263533 MAB21L2 mab-21 like 2 gene DOID:0111802 syndromic microphthalmia 14 ISO RGD:1323458 D RGD:7240710 20180130 OMIM 12263533 MAB21L2 mab-21 like 2 gene DOID:0111802 syndromic microphthalmia 14 ISO RGD:1323458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colobomatous microphthalmia-rhizomelic dysplasia syndrome PMID:24906020|PMID:25719200|PMID:25741868|PMID:32860008|PMID:34008892 12263533 MAB21L2 mab-21 like 2 gene DOID:12270 coloboma ISO RGD:1323458 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.151 C>G, (p.R51G)(human) PMID:25719200|REF_RGD_ID:11553846 12263533 MAB21L2 mab-21 like 2 gene DOID:630 genetic disease ISO RGD:1323458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28166811|PMID:28492532 12263533 MAB21L2 mab-21 like 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1323458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 12263609 AHDC1 AT-hook DNA binding motif containing 1 gene DOID:0050847 sleep apnea ISO RGD:1603658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sleep apnea syndrome PMID:23806086|PMID:24088041|PMID:24791903|PMID:25741868 12263609 AHDC1 AT-hook DNA binding motif containing 1 gene DOID:0050952 spastic ataxia ISO RGD:1603658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 12263609 AHDC1 AT-hook DNA binding motif containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1603658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12263609 AHDC1 AT-hook DNA binding motif containing 1 gene DOID:0060612 abdominal obesity-metabolic syndrome 3 ISO RGD:1603658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 PMID:25741868|PMID:29696776|PMID:33644933 12263609 AHDC1 AT-hook DNA binding motif containing 1 gene DOID:0070055 Xia-Gibbs syndrome ISO RGD:1603658 D RGD:7240710 20180130 OMIM 12263609 AHDC1 AT-hook DNA binding motif containing 1 gene DOID:0070055 Xia-Gibbs syndrome ISO RGD:1603658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | ClinVar Annotator: match by term: Xia-Gibbs syndrome PMID:23806086|PMID:24088041|PMID:24791903|PMID:25741868|PMID:25741869|PMID:27148574|PMID:28135719|PMID:28492532|PMID:29230160|PMID:29696776|PMID:30152016|PMID:30858058|PMID:31474318|PMID:33372375|PMID:33644933|PMID:35716097|PMID:4067559 12263609 AHDC1 AT-hook DNA binding motif containing 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1603658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 12263609 AHDC1 AT-hook DNA binding motif containing 1 gene DOID:1059 intellectual disability ISO RGD:1603658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23806086|PMID:24088041|PMID:24791903|PMID:25741868|PMID:28492532 12263609 AHDC1 AT-hook DNA binding motif containing 1 gene DOID:630 genetic disease ISO RGD:1603658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24791903|PMID:25741868|PMID:27148574|PMID:28135719|PMID:28492532|PMID:28518168|PMID:29696776|PMID:30152016|PMID:30729726|PMID:32461654|PMID:33644933|PMID:35716097 12263609 AHDC1 AT-hook DNA binding motif containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868|PMID:28492532 12263609 AHDC1 AT-hook DNA binding motif containing 1 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1603658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 12263609 AHDC1 AT-hook DNA binding motif containing 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1603658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:23806086|PMID:24088041|PMID:24791903|PMID:25741868 12263609 AHDC1 AT-hook DNA binding motif containing 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1603658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:23806086|PMID:24088041|PMID:24791903|PMID:25741868 12263620 HSD17B11 hydroxysteroid 17-beta dehydrogenase 11 gene DOID:630 genetic disease ISO RGD:1352920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12263620 HSD17B11 hydroxysteroid 17-beta dehydrogenase 11 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1352920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12263631 DCUN1D5 defective in cullin neddylation 1 domain containing 5 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1601949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 12263631 DCUN1D5 defective in cullin neddylation 1 domain containing 5 gene DOID:1059 intellectual disability ISO RGD:1601949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12263631 DCUN1D5 defective in cullin neddylation 1 domain containing 5 gene DOID:12704 ataxia telangiectasia ISO RGD:1601949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12263631 DCUN1D5 defective in cullin neddylation 1 domain containing 5 gene DOID:630 genetic disease ISO RGD:1601949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12263643 NRP2 neuropilin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1551257 D RGD:9068941 20220825 MouseDO 12263643 NRP2 neuropilin 2 gene DOID:10487 Hirschsprung's disease ISO RGD:732191 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 12263643 NRP2 neuropilin 2 gene DOID:12849 autistic disorder ISO RGD:732191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17427189 12263643 NRP2 neuropilin 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:732191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12263643 NRP2 neuropilin 2 gene DOID:630 genetic disease ISO RGD:732191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12263643 NRP2 neuropilin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12263679 ZNF771 zinc finger protein 771 gene DOID:630 genetic disease ISO RGD:1605390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12263689 RGS9 regulator of G protein signaling 9 gene DOID:0050335 bradyopsia ISO RGD:732260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bradyopsia PMID:14702087|PMID:17826834|PMID:19818506|PMID:25741868|PMID:28492532|PMID:30718709 12263689 RGS9 regulator of G protein signaling 9 gene DOID:0080855 Parkinsonism ISO RGD:3572 D RGD:9068941 20200609 RGD protein:decreased expression:striatum PMID:20561938|REF_RGD_ID:13524532 12263689 RGS9 regulator of G protein signaling 9 gene DOID:0080855 Parkinsonism ISO RGD:736730 D RGD:9068941 20200609 RGD PMID:18160641|REF_RGD_ID:13524864 12263689 RGS9 regulator of G protein signaling 9 gene DOID:0080855 Parkinsonism treatment ISO RGD:3572 D RGD:9068941 20200609 RGD PMID:21963945|REF_RGD_ID:13524862 12263689 RGS9 regulator of G protein signaling 9 gene DOID:14791 Leber congenital amaurosis ISO RGD:732260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:14702087|PMID:17826834|PMID:19818506|PMID:28492532|PMID:30718709 12263689 RGS9 regulator of G protein signaling 9 gene DOID:5419 schizophrenia ISO RGD:732260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17318883 12263689 RGS9 regulator of G protein signaling 9 gene DOID:630 genetic disease ISO RGD:732260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12263689 RGS9 regulator of G protein signaling 9 gene DOID:8646 substance-induced psychosis ISO RGD:732260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17318883 12263689 RGS9 regulator of G protein signaling 9 gene DOID:9000878 Bradyopsia 1 ISO RGD:732260 D RGD:7240710 20230505 OMIM 12263689 RGS9 regulator of G protein signaling 9 gene DOID:9002525 Hereditary Eye Diseases ISO RGD:732260 D RGD:9068941 20200609 RGD DNA:mutation PMID:14702087|REF_RGD_ID:1599999 12263689 RGS9 regulator of G protein signaling 9 gene DOID:9007387 Oligodontia-Colorectal Cancer Syndrome ISO RGD:732260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome PMID:28492532 12263689 RGS9 regulator of G protein signaling 9 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:732260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18160641|PMID:24663062 12263714 PSMG1 proteasome assembly chaperone 1 gene DOID:12849 autistic disorder ISO RGD:1313491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12263714 PSMG1 proteasome assembly chaperone 1 gene DOID:630 genetic disease ISO RGD:1313491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12263714 PSMG1 proteasome assembly chaperone 1 gene DOID:8577 ulcerative colitis ISO RGD:1313491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 12263725 ZDHHC19 zinc finger DHHC-type palmitoyltransferase 19 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1346417 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 12263725 ZDHHC19 zinc finger DHHC-type palmitoyltransferase 19 gene DOID:12849 autistic disorder ISO RGD:1346417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12263725 ZDHHC19 zinc finger DHHC-type palmitoyltransferase 19 gene DOID:5419 schizophrenia ISO RGD:1346417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12263725 ZDHHC19 zinc finger DHHC-type palmitoyltransferase 19 gene DOID:630 genetic disease ISO RGD:1346417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12263734 ANKLE2 ankyrin repeat and LEM domain containing 2 gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:1604388 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:25741868 12263734 ANKLE2 ankyrin repeat and LEM domain containing 2 gene DOID:0070289 primary autosomal recessive microcephaly 16 ISO RGD:1604388 D RGD:7240710 20180130 OMIM 12263734 ANKLE2 ankyrin repeat and LEM domain containing 2 gene DOID:0070289 primary autosomal recessive microcephaly 16 ISO RGD:1604388 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Microcephaly 16, primary, autosomal recessive PMID:23806086|PMID:24088041|PMID:25259927|PMID:25741868|PMID:30214071|PMID:31735666|PMID:35871307 12263734 ANKLE2 ankyrin repeat and LEM domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1604388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 12263734 ANKLE2 ankyrin repeat and LEM domain containing 2 gene DOID:10907 microcephaly ISO RGD:1604388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:23806086|PMID:24088041|PMID:25259927 12263734 ANKLE2 ankyrin repeat and LEM domain containing 2 gene DOID:630 genetic disease ISO RGD:1604388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12263734 ANKLE2 ankyrin repeat and LEM domain containing 2 gene DOID:9002704 Leukoencephalopathies ISO RGD:1604388 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Childhood ataxia with diffuse central nervous system hypomyelination PMID:25741868 12263734 ANKLE2 ankyrin repeat and LEM domain containing 2 gene DOID:9005348 Leukoencephalopathy with Vanishing White Matter 1 ISO RGD:1604388 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1 PMID:25741868 12263734 ANKLE2 ankyrin repeat and LEM domain containing 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:1604388 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:25741868 12263734 ANKLE2 ankyrin repeat and LEM domain containing 2 gene DOID:9256 colorectal cancer ISO RGD:1604388 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 12263762 LYG1 lysozyme g1 gene DOID:630 genetic disease ISO RGD:1602188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12263778 CABYR calcium binding tyrosine phosphorylation regulated gene DOID:1059 intellectual disability ISO RGD:1349000 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12263778 CABYR calcium binding tyrosine phosphorylation regulated gene DOID:12336 male infertility ISO RGD:1616750 D RGD:9068941 20220825 MouseDO 12263778 CABYR calcium binding tyrosine phosphorylation regulated gene DOID:630 genetic disease ISO RGD:1349000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12263778 CABYR calcium binding tyrosine phosphorylation regulated gene DOID:9008443 Colorectal Neoplasms ISO RGD:1349000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 12263814 MIR140 microRNA mir-140 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1353953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12263814 MIR140 microRNA mir-140 gene DOID:0112288 spondyloepiphyseal dysplasia Nishimura type ISO RGD:1353953 D RGD:7240710 20191030 OMIM 12263814 MIR140 microRNA mir-140 gene DOID:0112288 spondyloepiphyseal dysplasia Nishimura type ISO RGD:1353953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, nishimura type PMID:30804514 12263814 MIR140 microRNA mir-140 gene DOID:14004 thoracic aortic aneurysm ameliorates ISO RGD:1353953 D RGD:9068941 20230504 RGD PMID:32678444|REF_RGD_ID:329347832 12263814 MIR140 microRNA mir-140 gene DOID:1936 atherosclerosis ISO RGD:1353953 D RGD:9068941 20230429 RGD miRNA:increased expression:peripheral monocytes (human) PMID:32965005|REF_RGD_ID:329337370 12263814 MIR140 microRNA mir-140 gene DOID:1936 atherosclerosis ISO RGD:1353953 D RGD:9068941 20230504 RGD miRNA:increased expression:artery (human) PMID:33495827|REF_RGD_ID:329347823 12263814 MIR140 microRNA mir-140 gene DOID:1936 atherosclerosis ISO RGD:1608332 D RGD:9068941 20230429 RGD mRNA:increased expression:blood vessel (mouse) PMID:30483753|REF_RGD_ID:329337368 12263814 MIR140 microRNA mir-140 gene DOID:2256 osteochondrodysplasia ISO RGD:1608332 D RGD:9068941 20220825 MouseDO 12263814 MIR140 microRNA mir-140 gene DOID:3021 acute kidney failure ISO RGD:1353953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 12263814 MIR140 microRNA mir-140 gene DOID:3525 middle cerebral artery infarction ISO RGD:2325351 D RGD:9068941 20230504 RGD miRNA:decreased expression:cerebral cortex (rat) PMID:27035554|REF_RGD_ID:329337377 12263814 MIR140 microRNA mir-140 gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:1608332 D RGD:9068941 20230429 RGD PMID:33246036|REF_RGD_ID:329337375 12263814 MIR140 microRNA mir-140 gene DOID:3770 pulmonary fibrosis ISO RGD:1353953 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:25926378|PMID:32462952 12263814 MIR140 microRNA mir-140 gene DOID:6000 congestive heart failure ISO RGD:1353953 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12263814 MIR140 microRNA mir-140 gene DOID:9001820 Pulmonary Arterial Hypertension severity ISO RGD:1353953 D RGD:9068941 20230429 RGD miRNA:decreased expression:blood (human) PMID:27214554|REF_RGD_ID:329337371 12263814 MIR140 microRNA mir-140 gene DOID:9002661 Diabetes Complications ISO RGD:1353953 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:32062618 12263814 MIR140 microRNA mir-140 gene DOID:9002676 Cerebral Hemorrhage ameliorates ISO RGD:2325351 D RGD:9068941 20230504 RGD PMID:31376096|REF_RGD_ID:329337378 12263814 MIR140 microRNA mir-140 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1353953 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:32062618 12263814 MIR140 microRNA mir-140 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1608332 D RGD:9068941 20230429 RGD miRNA:increased expression:hippocampus (mouse) PMID:35248684|REF_RGD_ID:329337372 12263814 MIR140 microRNA mir-140 gene DOID:9003676 Brain Hypoxia-Ischemia severity ISO RGD:1353953 D RGD:9068941 20230504 RGD miRNA:decreased expression:blood serum (human) PMID:34331407|REF_RGD_ID:329347831 12263814 MIR140 microRNA mir-140 gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:1608332 D RGD:9068941 20230504 RGD PMID:31078585|PMID:36044268|REF_RGD_ID:156430337|REF_RGD_ID:329347833 12263814 MIR140 microRNA mir-140 gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:2325351 D RGD:9068941 20230504 RGD PMID:28922712|REF_RGD_ID:329347824 12263814 MIR140 microRNA mir-140 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1608332 D RGD:9068941 20230429 RGD miRNA:increased expression:heart, endothelial cells (mouse) PMID:31792649|REF_RGD_ID:329337374 12263814 MIR140 microRNA mir-140 gene DOID:9007838 Myocardial Reperfusion Injury exacerbates ISO RGD:1608332 D RGD:9068941 20230429 RGD PMID:30259997|REF_RGD_ID:329337366 12263814 MIR140 microRNA mir-140 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478399 12263817 MIR101-2 microRNA mir-101-2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1347793 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12263817 MIR101-2 microRNA mir-101-2 gene DOID:9008939 Breast Neoplasms ISO RGD:1347793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24475105 12263864 BIK BCL2 interacting killer gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1347683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12263864 BIK BCL2 interacting killer gene DOID:10283 prostate cancer ISO RGD:1347683 D RGD:9068941 20200609 RGD PMID:14633680|REF_RGD_ID:14394816 12263864 BIK BCL2 interacting killer gene DOID:1059 intellectual disability ISO RGD:1347683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12263864 BIK BCL2 interacting killer gene DOID:12704 ataxia telangiectasia susceptibility ISO RGD:1347683 D RGD:9068941 20200609 RGD DNA:deletion:intron:IVS4-12delTC(human) PMID:19898928|REF_RGD_ID:14394817 12263864 BIK BCL2 interacting killer gene DOID:1612 breast cancer ISO RGD:1347683 D RGD:9068941 20200609 RGD PMID:14633680|REF_RGD_ID:14394816 12263864 BIK BCL2 interacting killer gene DOID:219 colon cancer treatment ISO RGD:1347683 D RGD:9068941 20200609 RGD PMID:17636408|REF_RGD_ID:14394819 12263864 BIK BCL2 interacting killer gene DOID:4450 renal cell carcinoma ISO RGD:1347683 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16322756|REF_RGD_ID:14394818 12263864 BIK BCL2 interacting killer gene DOID:630 genetic disease ISO RGD:1347683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12263864 BIK BCL2 interacting killer gene DOID:9000081 Lymphatic Metastasis ISO RGD:1347683 D RGD:9068941 20200609 RGD associated with cholangiocarcinoma;DNA:CNV:: PMID:16865775|REF_RGD_ID:14394820 12263864 BIK BCL2 interacting killer gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1347683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:2869 D RGD:9068941 20200609 RGD protein:decreased activity:cerebellum (rat) PMID:16909201|REF_RGD_ID:12904886 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:0050700 cardiomyopathy ISO RGD:2869 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:myocardium PMID:17686258|REF_RGD_ID:2311503 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:0050782 Zollinger-Ellison syndrome ISO RGD:68997 D RGD:9068941 20200609 RGD mRNA and protein: increased expression::poor prognosis for high expression PMID:15867218|REF_RGD_ID:7242847 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:0060224 atrial fibrillation ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:68997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:0070004 myeloid neoplasm ISO RGD:68997 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:35568132 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:2869 D RGD:9068941 20200609 RGD associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat) PMID:24275070|REF_RGD_ID:12904726 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:10126 keratoconus ISO RGD:68997 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:10283 prostate cancer disease_progression ISO RGD:68997 D RGD:9068941 20200609 RGD PMID:28972962|REF_RGD_ID:13504752 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:10286 prostate carcinoma ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:18079205|REF_RGD_ID:13504770 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:1059 intellectual disability ISO RGD:68997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:10652 Alzheimer's disease ISO RGD:10766 D RGD:9068941 20200609 RGD PMID:19487308|REF_RGD_ID:10045878 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:10652 Alzheimer's disease ISO RGD:10766 D RGD:9068941 20200609 RGD DNA: haploinsufficiency:: full knockout dies at birth PMID:20409077|REF_RGD_ID:5686420 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:10652 Alzheimer's disease ISO RGD:10766 D RGD:9068941 20200609 RGD protein:increased expression: cerebral cortex: PMID:18479783|REF_RGD_ID:10045894 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:10652 Alzheimer's disease ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:16274856|REF_RGD_ID:10045879 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:10652 Alzheimer's disease ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15750215 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:10652 Alzheimer's disease severity ISO RGD:10766 D RGD:9068941 20200609 RGD PMID:16274856|REF_RGD_ID:10045879 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:10652 Alzheimer's disease severity ISO RGD:68997 D RGD:9068941 20200609 RGD protein:increased expression:temporal cortex: PMID:18479783|REF_RGD_ID:10045894 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:10652 Alzheimer's disease treatment ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:23562514|REF_RGD_ID:12904921 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:10763 hypertension ISO RGD:2869 D RGD:9068941 20200609 RGD protein:increased expression:aorta: PMID:21854769|REF_RGD_ID:10046007 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:68997 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:endothelial cell: PMID:12714661|REF_RGD_ID:10045893 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:11044 gastroschisis ISO RGD:2869 D RGD:9068941 20200609 RGD protein:increased expression:liver, intestine (rat) PMID:23381816|REF_RGD_ID:12904922 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:11132 prostatic hypertrophy ISO RGD:68997 D RGD:9068941 20200609 RGD mRNA: increased expression: prostate PMID:9215294|REF_RGD_ID:7242915 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:11162 respiratory failure ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20620343 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:11383 cryptorchidism ISO RGD:2869 D RGD:9068941 20200609 RGD protein:decreased expression:testis (rat) PMID:7473418|REF_RGD_ID:12904727 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:11476 osteoporosis ISO RGD:68997 D RGD:9068941 20200609 RGD PMID:18079194|REF_RGD_ID:10045888 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:11695 portal vein thrombosis susceptibility ISO RGD:68997 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma;DNA:SNP:3'UTR:rs3743251(human) PMID:24758241|REF_RGD_ID:14985227 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:11714 gestational diabetes ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:22241286|REF_RGD_ID:10046048 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:68997 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;protein:decreased expression:placenta PMID:16750336|REF_RGD_ID:2311505 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:12217 Lewy body dementia ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:12217 Lewy body dementia ISO RGD:68997 D RGD:9068941 20200609 RGD PMID:19276553|REF_RGD_ID:5129515 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:12361 Graves' disease ISO RGD:68997 D RGD:9068941 20200609 RGD protein: increased expression: blood: T cells and B cells PMID:18832736|REF_RGD_ID:5686433 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:12858 Huntington's disease ISO RGD:10766 D RGD:9068941 20200609 RGD PMID:25140802|REF_RGD_ID:10045870 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:1307 dementia ISO RGD:68997 D RGD:9068941 20200609 RGD PMID:16983186|REF_RGD_ID:10045873 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:14183 alcoholic neuropathy ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:23016131|REF_RGD_ID:10402569 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:14330 Parkinson's disease ISO RGD:2869 D RGD:9068941 20200609 RGD protein: altered activity PMID:19703168|REF_RGD_ID:5686429 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:14330 Parkinson's disease ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:14330 Parkinson's disease ISO RGD:68997 D RGD:9068941 20200609 RGD mRNA:altered expression:brain: PMID:19276553|REF_RGD_ID:5129515 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:1612 breast cancer ISO RGD:68997 D RGD:9068941 20200609 RGD protein: increased expression PMID:21047775|REF_RGD_ID:7242794 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:1793 pancreatic cancer ISO RGD:68997 D RGD:9068941 20200609 RGD PMID:14559833|PMID:19732452|PMID:19885860|REF_RGD_ID:2317640|REF_RGD_ID:2317642|REF_RGD_ID:2317651 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:2154 nephroblastoma ISO RGD:68997 D RGD:9068941 20200609 RGD PMID:22529373|REF_RGD_ID:7242789 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:2154 nephroblastoma ISO RGD:68997 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (human) PMID:8390684|REF_RGD_ID:12904709 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:2154 nephroblastoma treatment ISO RGD:68997 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:8390684|REF_RGD_ID:12904709 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:10766 D RGD:9068941 20200609 RGD PMID:25442907|REF_RGD_ID:13504768 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:8692980|REF_RGD_ID:13504771 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:68997 D RGD:9068941 20200609 RGD PMID:25862373|PMID:26452103|REF_RGD_ID:13504753|REF_RGD_ID:13504767 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:2986 IgA glomerulonephritis ISO RGD:68997 D RGD:9068941 20200609 RGD DNA: snp::rs2229765 PMID:21047277|REF_RGD_ID:7242795 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:3021 acute kidney failure ISO RGD:2869 D RGD:9068941 20200609 RGD mRNA: decreased expression: kidney: both cortex and medulla PMID:9767523|REF_RGD_ID:7242908 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:3070 high grade glioma ISO RGD:68997 D RGD:9068941 20200609 RGD DNA: SNP: : rs2272037 or rs2016347 PMID:18562769|REF_RGD_ID:5686434 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:332 amyotrophic lateral sclerosis onset ISO RGD:2869 D RGD:9068941 20200609 RGD mRNA:decreased expression:spinal cord (rat) PMID:18683239|REF_RGD_ID:12904708 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:68997 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:14506643|PMID:14627343|REF_RGD_ID:2317649|REF_RGD_ID:2317652 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:3602 toxic encephalopathy ISO RGD:68997 D RGD:9068941 20200609 RGD DNA: snp: intron: rs1879612: bortezomib induced PMID:20864405|REF_RGD_ID:5686413 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:3827 congenital diaphragmatic hernia ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20620343|PMID:21433279 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:3948 adrenocortical carcinoma ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22407999 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:4248 coronary stenosis ISO RGD:2869 D RGD:9068941 20200609 RGD mRNA:increased expression:myocyte: PMID:8102103|REF_RGD_ID:10046053 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:4450 renal cell carcinoma ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:17952403|REF_RGD_ID:7242846 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:4467 clear cell renal cell carcinoma ISO RGD:68997 D RGD:9068941 20200609 RGD xenograph of human clear cell renal cancer cells in mouse PMID:19509240|REF_RGD_ID:7242921 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:5082 liver cirrhosis susceptibility ISO RGD:68997 D RGD:9068941 20200609 RGD associated with Hepatis B virus;DNA:SNP:3'UTR:rs3743251(human) PMID:24758241|REF_RGD_ID:14985227 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:5577 gastrinoma ISO RGD:68997 D RGD:9068941 20200609 RGD mRNA and protein: increased expression::poor prognosis for high expression PMID:15867218|REF_RGD_ID:7242847 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:574 peripheral nervous system disease ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:5844 myocardial infarction ISO RGD:2869 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:myocyte: PMID:8682060|REF_RGD_ID:10046050 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:630 genetic disease ISO RGD:68997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14657428|PMID:19240156|PMID:21204214|PMID:23073384|PMID:25741868|PMID:28492532|PMID:30848790|PMID:31586944 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:676 juvenile rheumatoid arthritis ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17441810|PMID:23958494 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:68997 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: : PMID:24758241|REF_RGD_ID:14985227 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:769 neuroblastoma ISO RGD:68997 D RGD:9068941 20200609 RGD protein: decreased tyrosine phosphorylation: : Y1131 PMID:17121898|REF_RGD_ID:7242922 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:7998 hyperthyroidism ISO RGD:2869 D RGD:9068941 20200609 RGD protein:increased expression:myocardium PMID:17447016|REF_RGD_ID:2311524 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:8398 osteoarthritis severity ISO RGD:68997 D RGD:9068941 20200609 RGD mRNA:increased expression:articular cartilage of joint: PMID:8609369|REF_RGD_ID:10045889 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:850 lung disease ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20620343|PMID:21433279 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:8577 ulcerative colitis ISO RGD:68997 D RGD:9068941 20200609 RGD protein:altered expression:colon PMID:18938767|REF_RGD_ID:5686432 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:8725 vascular dementia ISO RGD:68997 D RGD:9068941 20200609 RGD PMID:16983186|REF_RGD_ID:10045873 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:8947 diabetic retinopathy disease_progression ISO RGD:2869 D RGD:9068941 20200609 RGD mRNA:increased expression:retina: PMID:12781065|REF_RGD_ID:10046008 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9000121 Malocclusion ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:22758598|REF_RGD_ID:10045831 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9000145 Insulin-Like Growth Factor I, Resistance To ISO RGD:68997 D RGD:7240710 20180130 OMIM 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9000145 Insulin-Like Growth Factor I, Resistance To ISO RGD:68997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IGF-I RESISTANCE | ClinVar Annotator: match by term: IGF1R-Related Disorder | ClinVar Annotator: match by term: Insulin-like growth factor 1 resistance to | ClinVar Annotator: match by term: Somatomedin end-organ insensitivity to | ClinVar Annotator: match by term: Somatomedin-c resistance to PMID:14657428|PMID:15799978|PMID:15928254|PMID:16569742|PMID:16894147|PMID:17264177|PMID:18316725|PMID:18989367|PMID:20416304|PMID:20455999|PMID:20625407|PMID:21204214|PMID:22130793|PMID:22309212|PMID:22903739|PMID:23045302|PMID:23073384|PMID:23147026|PMID:23164529|PMID:23431249|PMID:23549953|PMID:23771920|PMID:25040157|PMID:25231023|PMID:25628647|PMID:25741868|PMID:25743390|PMID:26252249|PMID:28492532|PMID:29168297|PMID:29789409|PMID:30848790|PMID:31586944 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:68997 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:16575403|REF_RGD_ID:2317645 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:10766 D RGD:9068941 20200609 RGD PMID:19032681|REF_RGD_ID:10045869 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2869 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:12800242|REF_RGD_ID:10045984 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9001820 Pulmonary Arterial Hypertension treatment ISO RGD:2869 D RGD:9068941 20230223 RGD PMID:30240970|REF_RGD_ID:156430315 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:2869 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:19008912|REF_RGD_ID:10046022 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9002231 Fetal Growth Retardation ISO RGD:2869 D RGD:9068941 20200609 RGD protein:increased expression:liver, lung (rat) PMID:12536576|REF_RGD_ID:12904724 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9002231 Fetal Growth Retardation ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14657428 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9002231 Fetal Growth Retardation ISO RGD:68997 D RGD:9068941 20200609 RGD DNA:point mutation:exon:p.R108Q, p.K115N (human) PMID:14657428|REF_RGD_ID:1624299 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9002231 Fetal Growth Retardation onset ISO RGD:2869 D RGD:9068941 20200609 RGD protein:decreased expression:placenta labyrinth (rat) PMID:24239160|REF_RGD_ID:12904720 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9002278 Metabolic Bone Diseases treatment ISO RGD:2869 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21567076|REF_RGD_ID:6907380 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9002331 Knee Osteoarthritis ISO RGD:68997 D RGD:9068941 20200609 RGD PMID:8948288|REF_RGD_ID:10045874 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9002644 Premature Aging ISO RGD:10766 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:19500727|REF_RGD_ID:10045876 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9002916 Hyperphagia ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:17567960|REF_RGD_ID:10046043 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9003936 Cardiomegaly ISO RGD:10766 D RGD:9068941 20200609 RGD PMID:18801929|REF_RGD_ID:2311509 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9004464 Skin Neoplasms ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10365914 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10766 D RGD:9068941 20200609 RGD protein:decreased expression:oviduct PMID:18676006|REF_RGD_ID:2311502 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2869 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:heart PMID:20555424|REF_RGD_ID:4142788 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:10090325|REF_RGD_ID:12904918 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:2869 D RGD:9068941 20200609 RGD protein:increased phosphorylation:carotid artery: PMID:17606126|REF_RGD_ID:10046006 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2869 D RGD:9068941 20200609 RGD mRNA: increased expression: kidney: 3 and 5 days post ischemia PMID:10990448|REF_RGD_ID:7242905 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9006257 Growth Disorders ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14657428 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9007096 Stroke ISO RGD:68997 D RGD:9068941 20200609 RGD DNA: SNP: : rs2229765 PMID:18477064|REF_RGD_ID:5686435 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23748240 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9007661 Dwarfism ISO RGD:68997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9007715 Endometrial Neoplasms ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21442237 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9007730 Burns ISO RGD:2869 D RGD:9068941 20200609 RGD protein:decreased expression:skeletal muscle: PMID:25186839|REF_RGD_ID:10046020 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9008091 Optic Nerve Injuries ISO RGD:2869 D RGD:9068941 20200609 RGD protein: altered activity: eye PMID:19484445|REF_RGD_ID:5686431 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9008091 Optic Nerve Injuries ISO RGD:2869 D RGD:9068941 20200609 RGD protein:increased expression:retina: PMID:23648097|REF_RGD_ID:10046025 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:68997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:68997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9008939 Breast Neoplasms ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21057462 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9351 diabetes mellitus ISO RGD:10766 D RGD:9068941 20200609 RGD PMID:16642022|REF_RGD_ID:2311506 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9351 diabetes mellitus ISO RGD:68997 D RGD:9068941 20220527 RGD associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:increased expression:lung (human) PMID:27411924|REF_RGD_ID:152975631 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:2869 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium, blood vessel endothelial cell PMID:18986336|REF_RGD_ID:2306690 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:2869 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:17476475|REF_RGD_ID:2311504 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9620 vesicoureteral reflux ISO RGD:68997 D RGD:9068941 20200609 RGD PMID:14760498|REF_RGD_ID:7242902 12263935 IGF1R insulin like growth factor 1 receptor gene DOID:9970 obesity ISO RGD:2869 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart (rat) PMID:11009458|REF_RGD_ID:12904882 12263963 LYZ lysozyme gene DOID:0050636 familial visceral amyloidosis ISO RGD:735254 D RGD:7240710 20180130 OMIM 12263963 LYZ lysozyme gene DOID:0050636 familial visceral amyloidosis ISO RGD:735254 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial visceral amyloidosis PMID:10534505|PMID:11849445|PMID:12360495|PMID:12675840|PMID:15745733|PMID:16523055|PMID:1808634|PMID:21988333|PMID:24433109|PMID:25217048|PMID:25741868|PMID:28492532|PMID:8464497|PMID:8566845 12263963 LYZ lysozyme gene DOID:630 genetic disease ISO RGD:735254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12263963 LYZ lysozyme gene DOID:9004492 Familial Amyloidosis ISO RGD:735254 D RGD:9068941 20200609 RGD PMID:12675840|PMID:8464497|REF_RGD_ID:1599840|REF_RGD_ID:1599842 12263969 NUSAP1 nucleolar and spindle associated protein 1 gene DOID:0080457 microcephaly, seizures, and developmental delay ISO RGD:1313993 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay PMID:25741868 12263969 NUSAP1 nucleolar and spindle associated protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1313993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12263969 NUSAP1 nucleolar and spindle associated protein 1 gene DOID:630 genetic disease ISO RGD:1313993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12263969 NUSAP1 nucleolar and spindle associated protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1313993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12263969 NUSAP1 nucleolar and spindle associated protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 12263969 NUSAP1 nucleolar and spindle associated protein 1 gene DOID:9256 colorectal cancer ISO RGD:1313993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12264002 CYTH2 cytohesin 2 gene DOID:630 genetic disease ISO RGD:737071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264021 DNAH1 dynein axonemal heavy chain 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1343402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:25927852 12264021 DNAH1 dynein axonemal heavy chain 1 gene DOID:0070165 spermatogenic failure 18 ISO RGD:1343402 D RGD:7240710 20190315 OMIM 12264021 DNAH1 dynein axonemal heavy chain 1 gene DOID:0070165 spermatogenic failure 18 ISO RGD:1343402 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 18 PMID:16199547|PMID:17576681|PMID:24033266|PMID:24360805|PMID:25741868|PMID:27573432|PMID:27798045|PMID:28492532|PMID:28577616|PMID:29449551|PMID:30686508|PMID:30811583|PMID:31507630|PMID:31765523|PMID:33968654|PMID:34867808|PMID:9536098 12264021 DNAH1 dynein axonemal heavy chain 1 gene DOID:0070188 spermatogenic failure 1 ISO RGD:1343402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligosynaptic infertility PMID:25741868|PMID:28492532 12264021 DNAH1 dynein axonemal heavy chain 1 gene DOID:0080266 primary ciliary dyskinesia 37 ISO RGD:1343402 D RGD:7240710 20190315 OMIM 12264021 DNAH1 dynein axonemal heavy chain 1 gene DOID:0080266 primary ciliary dyskinesia 37 ISO RGD:1343402 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 37 PMID:16199547|PMID:24033266|PMID:24360805|PMID:25741868|PMID:25927852|PMID:27573432|PMID:27798045|PMID:28492532 12264021 DNAH1 dynein axonemal heavy chain 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1343402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12264021 DNAH1 dynein axonemal heavy chain 1 gene DOID:0111915 spermatogenic failure 33 ISO RGD:1343402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic male infertility due to sperm motility disorder PMID:24033266 12264021 DNAH1 dynein axonemal heavy chain 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1343402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:28492532 12264021 DNAH1 dynein axonemal heavy chain 1 gene DOID:630 genetic disease ISO RGD:1343402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12264021 DNAH1 dynein axonemal heavy chain 1 gene DOID:9002089 Tumor Predisposition Syndrome 1 ISO RGD:1343402 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 PMID:21874000|PMID:23684012|PMID:28492532 12264021 DNAH1 dynein axonemal heavy chain 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:27573432|PMID:27798045|PMID:28492532 12264107 EPC1 enhancer of polycomb homolog 1 gene DOID:630 genetic disease ISO RGD:1314407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264107 EPC1 enhancer of polycomb homolog 1 gene DOID:9002514 Neointima treatment ISO RGD:1314408 D RGD:9068941 20200609 RGD PMID:22398275|REF_RGD_ID:9587795 12264134 DSTYK dual serine/threonine and tyrosine protein kinase gene DOID:0080206 CAKUT1 ISO RGD:1604373 D RGD:7240710 20180130 OMIM 12264134 DSTYK dual serine/threonine and tyrosine protein kinase gene DOID:0080206 CAKUT1 ISO RGD:1604373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1 PMID:17273976|PMID:17576681|PMID:23862974|PMID:25741868|PMID:27657687|PMID:28492532|PMID:28566479|PMID:9536098 12264134 DSTYK dual serine/threonine and tyrosine protein kinase gene DOID:0110774 hereditary spastic paraplegia 23 ISO RGD:1604373 D RGD:7240710 20180130 OMIM 12264134 DSTYK dual serine/threonine and tyrosine protein kinase gene DOID:0110774 hereditary spastic paraplegia 23 ISO RGD:1604373 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 23 PMID:25741868|PMID:28492532|PMID:33624863 12264134 DSTYK dual serine/threonine and tyrosine protein kinase gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1604373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12264134 DSTYK dual serine/threonine and tyrosine protein kinase gene DOID:12849 autistic disorder ISO RGD:1604373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12264134 DSTYK dual serine/threonine and tyrosine protein kinase gene DOID:1540 parathyroid carcinoma ISO RGD:1604373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12264134 DSTYK dual serine/threonine and tyrosine protein kinase gene DOID:630 genetic disease ISO RGD:1604373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12264134 DSTYK dual serine/threonine and tyrosine protein kinase gene DOID:784 chronic kidney disease ISO RGD:1604373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 12264134 DSTYK dual serine/threonine and tyrosine protein kinase gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1604373 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12264134 DSTYK dual serine/threonine and tyrosine protein kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12264151 CAST calpastatin gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:737362 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12264151 CAST calpastatin gene DOID:0110663 congenital myasthenic syndrome 1A ISO RGD:737362 D RGD:9068941 20200609 RGD PMID:17853947|REF_RGD_ID:5509810 12264151 CAST calpastatin gene DOID:10652 Alzheimer's disease ISO RGD:10292 D RGD:9068941 20200609 RGD PMID:20595388|REF_RGD_ID:5509799 12264151 CAST calpastatin gene DOID:10652 Alzheimer's disease ISO RGD:737362 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:19020018|REF_RGD_ID:5509809 12264151 CAST calpastatin gene DOID:12894 Sjogren's syndrome ISO RGD:737362 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic PMID:15540513|REF_RGD_ID:5683622 12264151 CAST calpastatin gene DOID:14067 Plasmodium falciparum malaria ISO RGD:737362 D RGD:9068941 20200609 RGD protein:alter localization:erythrocyte PMID:17359359|REF_RGD_ID:5509812 12264151 CAST calpastatin gene DOID:14069 cerebral malaria ISO RGD:10292 D RGD:9068941 20200609 RGD protein:increased express:brain PMID:16236382|REF_RGD_ID:5509817 12264151 CAST calpastatin gene DOID:14330 Parkinson's disease ISO RGD:737362 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs1559085) (human) PMID:20127884|REF_RGD_ID:5509800 12264151 CAST calpastatin gene DOID:14330 Parkinson's disease ISO RGD:737362 D RGD:9068941 20200609 RGD protein:decreased expression:substantia nigra, dopaminergic neuron PMID:10722997|REF_RGD_ID:5683320 12264151 CAST calpastatin gene DOID:2316 brain ischemia ISO RGD:2278 D RGD:9068941 20200609 RGD PMID:16467455|REF_RGD_ID:5509813 12264151 CAST calpastatin gene DOID:630 genetic disease ISO RGD:737362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12264151 CAST calpastatin gene DOID:7148 rheumatoid arthritis ISO RGD:737362 D RGD:9068941 20200609 RGD PMID:7706496|REF_RGD_ID:5683620 12264151 CAST calpastatin gene DOID:820 myocarditis ISO RGD:737362 D RGD:9068941 20220609 CTD CTD Direct Evidence: therapeutic PMID:34365571 12264151 CAST calpastatin gene DOID:865 vasculitis ISO RGD:737362 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic PMID:12367559|REF_RGD_ID:5683623 12264151 CAST calpastatin gene DOID:8893 psoriasis ISO RGD:737362 D RGD:9068941 20200609 RGD PMID:15654835|REF_RGD_ID:5509819 12264151 CAST calpastatin gene DOID:9000220 Coxsackievirus Infections ISO RGD:737362 D RGD:9068941 20220609 CTD CTD Direct Evidence: therapeutic PMID:34365571 12264151 CAST calpastatin gene DOID:9000998 Brain Injuries severity ISO RGD:2278 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:15307896|REF_RGD_ID:5509821 12264151 CAST calpastatin gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:737362 D RGD:9068941 20220609 CTD CTD Direct Evidence: therapeutic PMID:34365571 12264151 CAST calpastatin gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2278 D RGD:9068941 20200609 RGD PMID:10318818|REF_RGD_ID:5683321 12264151 CAST calpastatin gene DOID:9004009 Reperfusion Injury ISO RGD:2278 D RGD:9068941 20200609 RGD PMID:11035539|REF_RGD_ID:5509823 12264151 CAST calpastatin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12264151 CAST calpastatin gene DOID:9004484 Sepsis ISO RGD:2278 D RGD:9068941 20200609 RGD PMID:15563579|REF_RGD_ID:5683871 12264151 CAST calpastatin gene DOID:9004590 Acute Liver Failure ISO RGD:737362 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16871587 12264151 CAST calpastatin gene DOID:9005287 PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS ISO RGD:737362 D RGD:7240710 20180130 OMIM 12264151 CAST calpastatin gene DOID:9005287 PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS ISO RGD:737362 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads PMID:25683118|PMID:25741868|PMID:28492532|PMID:3527073 12264151 CAST calpastatin gene DOID:9005749 Necrosis ISO RGD:737362 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17323976 12264151 CAST calpastatin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737362 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12264151 CAST calpastatin gene DOID:9007096 Stroke ISO RGD:2278 D RGD:9068941 20200609 RGD PMID:20116408|REF_RGD_ID:5509801 12264151 CAST calpastatin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2278 D RGD:9068941 20200609 RGD PMID:16871587|REF_RGD_ID:5683869 12264151 CAST calpastatin gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2278 D RGD:9068941 20200609 RGD PMID:12482022|REF_RGD_ID:5683872 12264151 CAST calpastatin gene DOID:9074 systemic lupus erythematosus ISO RGD:737362 D RGD:9068941 20200609 RGD PMID:12367559|REF_RGD_ID:5683623 12264151 CAST calpastatin gene DOID:9182 pemphigus ISO RGD:737362 D RGD:9068941 20200609 RGD PMID:16314468|REF_RGD_ID:5509814 12264151 CAST calpastatin gene DOID:9281 phenylketonuria ISO RGD:10292 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain PMID:15863237|REF_RGD_ID:5509818 12264151 CAST calpastatin gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737362 D RGD:9068941 20200609 RGD protein:increased expresssion:B cell PMID:11264179|REF_RGD_ID:5509822 12264210 DDX5 DEAD-box helicase 5 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1345493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 12264210 DDX5 DEAD-box helicase 5 gene DOID:289 endometriosis ISO RGD:1345493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12264210 DDX5 DEAD-box helicase 5 gene DOID:3151 skin squamous cell carcinoma ISO RGD:1345493 D RGD:9068941 20200609 RGD protein:increased expression:foreskin (human) PMID:22548649|REF_RGD_ID:9850272 12264210 DDX5 DEAD-box helicase 5 gene DOID:630 genetic disease ISO RGD:1345493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264210 DDX5 DEAD-box helicase 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1345493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12264231 TRIL TLR4 interactor with leucine rich repeats gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:4143834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12264231 TRIL TLR4 interactor with leucine rich repeats gene DOID:630 genetic disease ISO RGD:4143834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264239 PAK4 p21 (RAC1) activated kinase 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1317048 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12264239 PAK4 p21 (RAC1) activated kinase 4 gene DOID:10283 prostate cancer ISO RGD:1317048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12264239 PAK4 p21 (RAC1) activated kinase 4 gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:1317048 D RGD:9068941 20200609 RGD PMID:25744653|REF_RGD_ID:13504816 12264239 PAK4 p21 (RAC1) activated kinase 4 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1317048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12264239 PAK4 p21 (RAC1) activated kinase 4 gene DOID:630 genetic disease ISO RGD:1317048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264239 PAK4 p21 (RAC1) activated kinase 4 gene DOID:769 neuroblastoma ISO RGD:1317048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29048629 12264239 PAK4 p21 (RAC1) activated kinase 4 gene DOID:8466 retinal degeneration ISO RGD:1317049 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:16505058|REF_RGD_ID:7775028 12264239 PAK4 p21 (RAC1) activated kinase 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1317048 D RGD:9068941 20200609 RGD PMID:20697354|REF_RGD_ID:7775027 12264239 PAK4 p21 (RAC1) activated kinase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317048 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12264265 OR7C2 olfactory receptor family 7 subfamily C member 2 gene DOID:630 genetic disease ISO RGD:1344773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264270 ADD3 adducin 3 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:735411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 12264270 ADD3 adducin 3 gene DOID:0110802 hereditary spastic paraplegia 50 ISO RGD:735411 D RGD:7240710 20190315 OMIM 12264270 ADD3 adducin 3 gene DOID:0110802 hereditary spastic paraplegia 50 ISO RGD:735411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 3 PMID:23836506|PMID:25741868|PMID:28492532|PMID:29768408 12264270 ADD3 adducin 3 gene DOID:10763 hypertension ISO RGD:2043 D RGD:9068941 20200609 RGD PMID:12364392|REF_RGD_ID:704369 12264270 ADD3 adducin 3 gene DOID:10907 microcephaly ISO RGD:735411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12264270 ADD3 adducin 3 gene DOID:1969 cerebral palsy ISO RGD:735411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:23836506|PMID:25741868 12264270 ADD3 adducin 3 gene DOID:2316 brain ischemia ISO RGD:735411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17901229 12264270 ADD3 adducin 3 gene DOID:3312 bipolar disorder ISO RGD:735411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12264270 ADD3 adducin 3 gene DOID:3602 toxic encephalopathy ISO RGD:735411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12264270 ADD3 adducin 3 gene DOID:576 proteinuria ISO RGD:2043 D RGD:9068941 20210917 RGD PMID:32029431|REF_RGD_ID:150340736 12264270 ADD3 adducin 3 gene DOID:630 genetic disease ISO RGD:735411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12264270 ADD3 adducin 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12264270 ADD3 adducin 3 gene DOID:9003311 Urinary Calculi ISO RGD:2043 D RGD:9068941 20200609 RGD PMID:15329129|REF_RGD_ID:2317717 12264305 LOC489461 asialoglycoprotein receptor 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:737103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12264305 LOC489461 asialoglycoprotein receptor 1 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:737103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 12264305 LOC489461 asialoglycoprotein receptor 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:737103 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12264305 LOC489461 asialoglycoprotein receptor 1 gene DOID:12177 common variable immunodeficiency ISO RGD:737103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12264305 LOC489461 asialoglycoprotein receptor 1 gene DOID:2729 dyskeratosis congenita ISO RGD:737103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12264305 LOC489461 asialoglycoprotein receptor 1 gene DOID:630 genetic disease ISO RGD:737103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264318 C5H11orf71 chromosome 5 C11orf71 homolog gene DOID:1059 intellectual disability ISO RGD:1604001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12264318 C5H11orf71 chromosome 5 C11orf71 homolog gene DOID:630 genetic disease ISO RGD:1604001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264318 C5H11orf71 chromosome 5 C11orf71 homolog gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12264323 TTLL1 TTL family tubulin polyglutamylase complex subunit L1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1319289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12264323 TTLL1 TTL family tubulin polyglutamylase complex subunit L1 gene DOID:1059 intellectual disability ISO RGD:1319289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12264323 TTLL1 TTL family tubulin polyglutamylase complex subunit L1 gene DOID:630 genetic disease ISO RGD:1319289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264323 TTLL1 TTL family tubulin polyglutamylase complex subunit L1 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1319289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 12264323 TTLL1 TTL family tubulin polyglutamylase complex subunit L1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1319290 D RGD:9068941 20220825 MouseDO 12264350 TEX30 testis expressed 30 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1605014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:28492532 12264350 TEX30 testis expressed 30 gene DOID:14701 propionic acidemia ISO RGD:1605014 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 12264350 TEX30 testis expressed 30 gene DOID:630 genetic disease ISO RGD:1605014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264350 TEX30 testis expressed 30 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1605014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12264350 TEX30 testis expressed 30 gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:1605014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 12264367 C28H10orf62 chromosome 28 C10orf62 homolog gene DOID:630 genetic disease ISO RGD:1351899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264425 NFYC nuclear transcription factor Y subunit gamma gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12264425 NFYC nuclear transcription factor Y subunit gamma gene DOID:630 genetic disease ISO RGD:731843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264445 INSIG1 insulin induced gene 1 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1347615 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 12264445 INSIG1 insulin induced gene 1 gene DOID:12849 autistic disorder ISO RGD:1347615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12264445 INSIG1 insulin induced gene 1 gene DOID:305 carcinoma ISO RGD:1347615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12264445 INSIG1 insulin induced gene 1 gene DOID:630 genetic disease ISO RGD:1347615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264445 INSIG1 insulin induced gene 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1347615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12264445 INSIG1 insulin induced gene 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12264445 INSIG1 insulin induced gene 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1332305 D RGD:9068941 20200609 RGD PMID:16327801|REF_RGD_ID:2308858 12264445 INSIG1 insulin induced gene 1 gene DOID:9006599 Hypertriglyceridemia severity ISO RGD:1332305 D RGD:9068941 20200609 RGD associated with Obesity PMID:15096598|REF_RGD_ID:2308857 12264445 INSIG1 insulin induced gene 1 gene DOID:9452 fatty liver disease ISO RGD:708457 D RGD:9068941 20200609 RGD associated with Obesity;mRNA:increased expression:liver PMID:15096598|REF_RGD_ID:2308857 12264445 INSIG1 insulin induced gene 1 gene DOID:9452 fatty liver disease severity ISO RGD:1332305 D RGD:9068941 20200609 RGD associated with Obesity PMID:15096598|REF_RGD_ID:2308857 12264455 LTBP1 latent transforming growth factor beta binding protein 1 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:68547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914 12264455 LTBP1 latent transforming growth factor beta binding protein 1 gene DOID:1682 congenital heart disease ISO RGD:68547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital heart disease 12264455 LTBP1 latent transforming growth factor beta binding protein 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:68379 D RGD:9068941 20200609 RGD PMID:11720783|REF_RGD_ID:10412057 12264455 LTBP1 latent transforming growth factor beta binding protein 1 gene DOID:2921 glomerulonephritis ISO RGD:68379 D RGD:9068941 20200609 RGD PMID:16282705|REF_RGD_ID:7387262 12264455 LTBP1 latent transforming growth factor beta binding protein 1 gene DOID:630 genetic disease ISO RGD:68547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264455 LTBP1 latent transforming growth factor beta binding protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12264455 LTBP1 latent transforming growth factor beta binding protein 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:68547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 12264455 LTBP1 latent transforming growth factor beta binding protein 1 gene DOID:9003374 Autosomal Recessive Cutis Laxa Type IIE ISO RGD:68547 D RGD:7240710 20210728 OMIM 12264455 LTBP1 latent transforming growth factor beta binding protein 1 gene DOID:9003374 Autosomal Recessive Cutis Laxa Type IIE ISO RGD:68547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE PMID:25741868|PMID:33991472 12264455 LTBP1 latent transforming growth factor beta binding protein 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:68379 D RGD:9068941 20200609 RGD PMID:17574405|REF_RGD_ID:2302087 12264513 NEK4 NIMA related kinase 4 gene DOID:0060340 ciliopathy ISO RGD:1312757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ciliopathy 12264513 NEK4 NIMA related kinase 4 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1312757 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12264513 NEK4 NIMA related kinase 4 gene DOID:630 genetic disease ISO RGD:1312757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264551 RBP4 retinol binding protein 4 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:735251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:24206907|PMID:28492532 12264551 RBP4 retinol binding protein 4 gene DOID:11267 keratomalacia ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9888420 12264551 RBP4 retinol binding protein 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17456573 12264551 RBP4 retinol binding protein 4 gene DOID:12270 coloboma ISO RGD:735251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:29178648 12264551 RBP4 retinol binding protein 4 gene DOID:305 carcinoma ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12264551 RBP4 retinol binding protein 4 gene DOID:557 kidney disease ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22061828 12264551 RBP4 retinol binding protein 4 gene DOID:6000 congestive heart failure ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 12264551 RBP4 retinol binding protein 4 gene DOID:630 genetic disease ISO RGD:735251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25910211|PMID:28492532 12264551 RBP4 retinol binding protein 4 gene DOID:9000217 Stomach Neoplasms ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12264551 RBP4 retinol binding protein 4 gene DOID:9000343 Vision Disorders ISO RGD:735251 D RGD:9068941 20200609 RGD retinol-binding protein deficiency;DNA:point mutation:exon:p.I41N, p.G75D (human) PMID:9888420|REF_RGD_ID:1601613 12264551 RBP4 retinol binding protein 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12264551 RBP4 retinol binding protein 4 gene DOID:9000743 Isolated Microphthalmia with Coloboma 10 IAGP D RGD:12801476 20210603 OMIA Microphthalmia, isolated, with coloboma PMID:29847795 12264551 RBP4 retinol binding protein 4 gene DOID:9000743 Isolated Microphthalmia with Coloboma 10 ISO RGD:735251 D RGD:7240710 20180130 OMIM 12264551 RBP4 retinol binding protein 4 gene DOID:9000743 Isolated Microphthalmia with Coloboma 10 ISO RGD:735251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 10 PMID:25741868|PMID:25910211 12264551 RBP4 retinol binding protein 4 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762690 12264551 RBP4 retinol binding protein 4 gene DOID:9002470 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome ISO RGD:735251 D RGD:7240710 20180130 OMIM 12264551 RBP4 retinol binding protein 4 gene DOID:9002470 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome ISO RGD:735251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome PMID:10232633|PMID:16157297|PMID:23189188|PMID:25741868|PMID:25910211|PMID:28492532|PMID:9888420 12264551 RBP4 retinol binding protein 4 gene DOID:9003281 Spontaneous Abortions ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12264551 RBP4 retinol binding protein 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3546 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 12264551 RBP4 retinol binding protein 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12264551 RBP4 retinol binding protein 4 gene DOID:9005749 Necrosis ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22061828 12264551 RBP4 retinol binding protein 4 gene DOID:9008296 Eye Abnormalities ISO RGD:735251 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643 12264551 RBP4 retinol binding protein 4 gene DOID:9008550 Vitamin A Deficiency ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16157297 12264551 RBP4 retinol binding protein 4 gene DOID:9008939 Breast Neoplasms ISO RGD:735251 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35191604 12264551 RBP4 retinol binding protein 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3546 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19080170|REF_RGD_ID:2311652 12264551 RBP4 retinol binding protein 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735251 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19506831|REF_RGD_ID:2311651 12264551 RBP4 retinol binding protein 4 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:735251 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:17174134|REF_RGD_ID:1601615 12264551 RBP4 retinol binding protein 4 gene DOID:9970 obesity ISO RGD:3546 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:adipose tissue, serum PMID:18401839|REF_RGD_ID:2302016 12264561 CADM1 cell adhesion molecule 1 gene DOID:10283 prostate cancer ISO RGD:1322220 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:12079507|REF_RGD_ID:2289091 12264561 CADM1 cell adhesion molecule 1 gene DOID:1059 intellectual disability ISO RGD:1322220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12264561 CADM1 cell adhesion molecule 1 gene DOID:12849 autistic disorder ISO RGD:1322220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18957284 12264561 CADM1 cell adhesion molecule 1 gene DOID:1596 depressive disorder ISO RGD:1322220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22113448 12264561 CADM1 cell adhesion molecule 1 gene DOID:3459 breast carcinoma severity ISO RGD:1322220 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:17260099|REF_RGD_ID:2289088 12264561 CADM1 cell adhesion molecule 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1310999 D RGD:9068941 20200609 RGD DNA, mRNA:hypermethylation, decreased expression:promoter:liver PMID:16814249|REF_RGD_ID:2289096 12264561 CADM1 cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:1322220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264561 CADM1 cell adhesion molecule 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1310999 D RGD:9068941 20200609 RGD DNA, mRNA, protein:hypermethylation, decreased expression:promoter:liver PMID:17428255|REF_RGD_ID:2289095 12264561 CADM1 cell adhesion molecule 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:1322220 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 12264561 CADM1 cell adhesion molecule 1 gene DOID:8991 cervix uteri carcinoma in situ severity ISO RGD:1322220 D RGD:9068941 20200609 RGD PMID:17009984|REF_RGD_ID:2289089 12264561 CADM1 cell adhesion molecule 1 gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:1322220 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:16532039|REF_RGD_ID:2296030 12264561 CADM1 cell adhesion molecule 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1322220 D RGD:9068941 20200609 RGD DNA, mRNA:hypermethylation, decreased expression:cervix PMID:15589594|REF_RGD_ID:2289090 12264561 CADM1 cell adhesion molecule 1 gene DOID:9003373 Uterine Cervical Neoplasms severity ISO RGD:1322220 D RGD:9068941 20200609 RGD PMID:17009984|REF_RGD_ID:2289089 12264561 CADM1 cell adhesion molecule 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12264561 CADM1 cell adhesion molecule 1 gene DOID:9007661 Dwarfism ISO RGD:1322220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12264561 CADM1 cell adhesion molecule 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1322220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17260099 12264586 NUPR1 nuclear protein 1, transcriptional regulator gene DOID:0050457 Sertoli cell-only syndrome ISO RGD:732432 D RGD:9068941 20220825 MouseDO OMIM:305700 | OMIM:400042 12264586 NUPR1 nuclear protein 1, transcriptional regulator gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 12264586 NUPR1 nuclear protein 1, transcriptional regulator gene DOID:4989 pancreatitis ISO RGD:736958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16822955 12264586 NUPR1 nuclear protein 1, transcriptional regulator gene DOID:5419 schizophrenia ISO RGD:736958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12264586 NUPR1 nuclear protein 1, transcriptional regulator gene DOID:630 genetic disease ISO RGD:736958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264586 NUPR1 nuclear protein 1, transcriptional regulator gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12264586 NUPR1 nuclear protein 1, transcriptional regulator gene DOID:9455 lipid storage disease ISO RGD:736958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17175557 12264586 NUPR1 nuclear protein 1, transcriptional regulator gene DOID:9775 diastolic heart failure ISO RGD:736958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12264597 SEC23A SEC23 homolog A, COPII coat complex component gene DOID:0070307 craniolenticulosutural dysplasia ISO RGD:1354109 D RGD:7240710 20180130 OMIM 12264597 SEC23A SEC23 homolog A, COPII coat complex component gene DOID:0070307 craniolenticulosutural dysplasia ISO RGD:1354109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniolenticulosutural dysplasia PMID:16980979|PMID:17576681|PMID:17981132|PMID:21039434|PMID:22298774|PMID:25741868|PMID:28492532|PMID:34580982|PMID:9536098 12264597 SEC23A SEC23 homolog A, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1354109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12264597 SEC23A SEC23 homolog A, COPII coat complex component gene DOID:8398 osteoarthritis ISO RGD:1354109 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12264597 SEC23A SEC23 homolog A, COPII coat complex component gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1354109 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12264621 CLTC clathrin heavy chain gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:732795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22474449 12264621 CLTC clathrin heavy chain gene DOID:0050777 Joubert syndrome ISO RGD:732795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12264621 CLTC clathrin heavy chain gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:732795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868 12264621 CLTC clathrin heavy chain gene DOID:0080226 autosomal dominant intellectual developmental disorder 56 ISO RGD:732795 D RGD:7240710 20190315 OMIM 12264621 CLTC clathrin heavy chain gene DOID:0080226 autosomal dominant intellectual developmental disorder 56 ISO RGD:732795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 56 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 PMID:17576681|PMID:22831640|PMID:25741868|PMID:28135719|PMID:28492532|PMID:29100083|PMID:31776469|PMID:9536098 12264621 CLTC clathrin heavy chain gene DOID:1059 intellectual disability ISO RGD:732795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12264621 CLTC clathrin heavy chain gene DOID:630 genetic disease ISO RGD:732795 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1063406|PMID:11955450|PMID:15217342|PMID:15284851|PMID:15858577|PMID:16618797|PMID:16982422|PMID:18762582|PMID:19348700|PMID:19854944|PMID:20206336|PMID:22511880|PMID:22831640|PMID:23911319|PMID:24234437|PMID:24253303|PMID:24870542|PMID:25741868|PMID:26822784|PMID:28135719|PMID:28492532|PMID:29100083|PMID:31776469|PMID:8375651|PMID:9147638|PMID:9671304 12264621 CLTC clathrin heavy chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732795 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12264621 CLTC clathrin heavy chain gene DOID:9008086 Developmental Disabilities ISO RGD:732795 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12264621 CLTC clathrin heavy chain gene DOID:9008582 Developmental Disease ISO RGD:732795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12264659 PITPNA phosphatidylinositol transfer protein alpha gene DOID:0060357 chylomicron retention disease ISO RGD:1550960 D RGD:9068941 20220825 MouseDO OMIM:246700 12264659 PITPNA phosphatidylinositol transfer protein alpha gene DOID:630 genetic disease ISO RGD:1352423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264675 MPC1L mitochondrial pyruvate carrier 1 like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:6892656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12264675 MPC1L mitochondrial pyruvate carrier 1 like gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:6892656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 12264675 MPC1L mitochondrial pyruvate carrier 1 like gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:6892656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 12264675 MPC1L mitochondrial pyruvate carrier 1 like gene DOID:12849 autistic disorder ISO RGD:6892656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12264675 MPC1L mitochondrial pyruvate carrier 1 like gene DOID:630 genetic disease ISO RGD:6892656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264675 MPC1L mitochondrial pyruvate carrier 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:6892656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12264675 MPC1L mitochondrial pyruvate carrier 1 like gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:6892656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 12264680 MAP7D3 MAP7 domain containing 3 gene DOID:0060022 CD40 ligand deficiency ISO RGD:1606231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12264680 MAP7D3 MAP7 domain containing 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12264680 MAP7D3 MAP7 domain containing 3 gene DOID:0060825 Christianson syndrome ISO RGD:1606231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12264680 MAP7D3 MAP7 domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1606231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12264680 MAP7D3 MAP7 domain containing 3 gene DOID:630 genetic disease ISO RGD:1606231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264680 MAP7D3 MAP7 domain containing 3 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1606231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12264680 MAP7D3 MAP7 domain containing 3 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1606231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12264726 AMBN ameloblastin gene DOID:0110065 amelogenesis imperfecta type 1F ISO RGD:736409 D RGD:7240710 20180130 OMIM 12264726 AMBN ameloblastin gene DOID:0110065 amelogenesis imperfecta type 1F ISO RGD:736409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F PMID:24858907|PMID:25741868|PMID:26502894|PMID:28492532 12264726 AMBN ameloblastin gene DOID:630 genetic disease ISO RGD:736409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264726 AMBN ameloblastin gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:736409 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12264739 ASB10 ankyrin repeat and SOCS box containing 10 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1353086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 12264739 ASB10 ankyrin repeat and SOCS box containing 10 gene DOID:2843 long QT syndrome ISO RGD:1353086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 12264739 ASB10 ankyrin repeat and SOCS box containing 10 gene DOID:630 genetic disease ISO RGD:1353086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10037570|PMID:28492532 12264739 ASB10 ankyrin repeat and SOCS box containing 10 gene DOID:9001412 Glaucoma 1, Open Angle, F ISO RGD:1353086 D RGD:7240710 20180130 OMIM 12264739 ASB10 ankyrin repeat and SOCS box containing 10 gene DOID:9001412 Glaucoma 1, Open Angle, F ISO RGD:1353086 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, F PMID:10037570|PMID:22156576|PMID:25741868|PMID:28492532 12264752 DDB2 damage specific DNA binding protein 2 gene DOID:0050427 xeroderma pigmentosum ISO RGD:1320906 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:24728327|PMID:25741868|PMID:26580448|PMID:28492532 12264752 DDB2 damage specific DNA binding protein 2 gene DOID:0050427 xeroderma pigmentosum susceptibility ISO RGD:1320906 D RGD:9068941 20200609 RGD DNA:transitions: :p.K244E, p.R273H PMID:8798680|REF_RGD_ID:1601050 12264752 DDB2 damage specific DNA binding protein 2 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1320906 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12264752 DDB2 damage specific DNA binding protein 2 gene DOID:0110846 xeroderma pigmentosum group E ISO RGD:1320906 D RGD:7240710 20180130 OMIM 12264752 DDB2 damage specific DNA binding protein 2 gene DOID:0110846 xeroderma pigmentosum group E ISO RGD:1320906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group E PMID:10469312|PMID:10585395|PMID:12812979|PMID:21107348|PMID:24728327|PMID:25741868|PMID:28492532 12264752 DDB2 damage specific DNA binding protein 2 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1320906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 12264752 DDB2 damage specific DNA binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1320906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12264752 DDB2 damage specific DNA binding protein 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1320906 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12264752 DDB2 damage specific DNA binding protein 2 gene DOID:2394 ovarian cancer ISO RGD:1320906 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 12264752 DDB2 damage specific DNA binding protein 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320906 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 PMID:25741868 12264752 DDB2 damage specific DNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1320906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12264787 SIPA1 signal-induced proliferation-associated 1 gene DOID:10485 esophageal atresia ISO RGD:1346963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12264787 SIPA1 signal-induced proliferation-associated 1 gene DOID:1059 intellectual disability ISO RGD:1346963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12264787 SIPA1 signal-induced proliferation-associated 1 gene DOID:1909 melanoma ISO RGD:1346963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12264787 SIPA1 signal-induced proliferation-associated 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12264787 SIPA1 signal-induced proliferation-associated 1 gene DOID:2746 glycogen storage disease V ISO RGD:1346963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12264787 SIPA1 signal-induced proliferation-associated 1 gene DOID:3070 high grade glioma ISO RGD:1346963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12264787 SIPA1 signal-induced proliferation-associated 1 gene DOID:630 genetic disease ISO RGD:1346963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264787 SIPA1 signal-induced proliferation-associated 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:1553084 D RGD:9068941 20220825 MouseDO OMIM:608232 12264787 SIPA1 signal-induced proliferation-associated 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1346963 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12264787 SIPA1 signal-induced proliferation-associated 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1346963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 12264809 KDELR1 KDEL endoplasmic reticulum protein retention receptor 1 gene DOID:630 genetic disease ISO RGD:1315569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264809 KDELR1 KDEL endoplasmic reticulum protein retention receptor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12264818 DENND4A DENN domain containing 4A gene DOID:0110935 nemaline myopathy 6 ISO RGD:1349929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12264818 DENND4A DENN domain containing 4A gene DOID:2717 Bloom syndrome ISO RGD:1349929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12264818 DENND4A DENN domain containing 4A gene DOID:630 genetic disease ISO RGD:1349929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264818 DENND4A DENN domain containing 4A gene DOID:9256 colorectal cancer ISO RGD:1349929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12264862 ANKRD33B ankyrin repeat domain 33B gene DOID:630 genetic disease ISO RGD:2307384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264874 ZNF311 zinc finger protein 311 gene DOID:11372 megacolon ISO RGD:1604963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12264874 ZNF311 zinc finger protein 311 gene DOID:630 genetic disease ISO RGD:1604963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264888 OR8A1 olfactory receptor family 8 subfamily A member 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1349349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12264888 OR8A1 olfactory receptor family 8 subfamily A member 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1349349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12264888 OR8A1 olfactory receptor family 8 subfamily A member 1 gene DOID:5419 schizophrenia ISO RGD:1349349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12264888 OR8A1 olfactory receptor family 8 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1349349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264888 OR8A1 olfactory receptor family 8 subfamily A member 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12264888 OR8A1 olfactory receptor family 8 subfamily A member 1 gene DOID:9007661 Dwarfism ISO RGD:1349349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12264901 ANKS4B ankyrin repeat and sterile alpha motif domain containing 4B gene DOID:630 genetic disease ISO RGD:1606413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264911 S1PR1 sphingosine-1-phosphate receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1346165 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD8+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 12264911 S1PR1 sphingosine-1-phosphate receptor 1 gene DOID:10763 hypertension disease_progression ISO RGD:61958 D RGD:9068941 20200609 RGD associated with SHRSP;mRNA,protein:increased expression, decreased expression:kidney (rat) PMID:17938382|REF_RGD_ID:1643008 12264911 S1PR1 sphingosine-1-phosphate receptor 1 gene DOID:1826 epilepsy ISO RGD:1346165 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12264911 S1PR1 sphingosine-1-phosphate receptor 1 gene DOID:305 carcinoma ISO RGD:1346165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12264911 S1PR1 sphingosine-1-phosphate receptor 1 gene DOID:630 genetic disease ISO RGD:1346165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264911 S1PR1 sphingosine-1-phosphate receptor 1 gene DOID:9000352 Vascular System Injuries ISO RGD:1346165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29609002 12264911 S1PR1 sphingosine-1-phosphate receptor 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1346165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12264911 S1PR1 sphingosine-1-phosphate receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12264911 S1PR1 sphingosine-1-phosphate receptor 1 gene DOID:9002514 Neointima ISO RGD:1346165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29609002 12264911 S1PR1 sphingosine-1-phosphate receptor 1 gene DOID:9003936 Cardiomegaly ISO RGD:61958 D RGD:9068941 20200609 RGD PMID:11549339|REF_RGD_ID:1357201 12264911 S1PR1 sphingosine-1-phosphate receptor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:62251 D RGD:9068941 20200609 RGD PMID:16403835|REF_RGD_ID:1580913 12264911 S1PR1 sphingosine-1-phosphate receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1346165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12264911 S1PR1 sphingosine-1-phosphate receptor 1 gene DOID:9269 maple syrup urine disease ISO RGD:1346165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 12264926 AKAP6 A-kinase anchoring protein 6 gene DOID:0060224 atrial fibrillation ISO RGD:69458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12264926 AKAP6 A-kinase anchoring protein 6 gene DOID:1059 intellectual disability ISO RGD:69458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12264926 AKAP6 A-kinase anchoring protein 6 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1550845 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:14511675|REF_RGD_ID:14349026 12264926 AKAP6 A-kinase anchoring protein 6 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1550845 D RGD:9068941 20200609 RGD PMID:24812305|REF_RGD_ID:11251930 12264926 AKAP6 A-kinase anchoring protein 6 gene DOID:2152 ovary epithelial cancer susceptibility ISO RGD:69458 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1955513,rs927062(human) PMID:29979793|REF_RGD_ID:14348955 12264926 AKAP6 A-kinase anchoring protein 6 gene DOID:6000 congestive heart failure ISO RGD:1550845 D RGD:9068941 20200609 RGD PMID:24812305|REF_RGD_ID:11251930 12264926 AKAP6 A-kinase anchoring protein 6 gene DOID:630 genetic disease ISO RGD:69458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264926 AKAP6 A-kinase anchoring protein 6 gene DOID:8689 anorexia nervosa susceptibility ISO RGD:69458 D RGD:9068941 20200609 RGD DNA:SNP: :rs2383378(human) PMID:21079607|REF_RGD_ID:14349024 12264926 AKAP6 A-kinase anchoring protein 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:69458 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12264952 RAD51B RAD51 paralog B gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1344706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 12264952 RAD51B RAD51 paralog B gene DOID:303 substance-related disorder ISO RGD:1344706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12264952 RAD51B RAD51 paralog B gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344706 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:26898890|PMID:28492532|PMID:32566746 12264952 RAD51B RAD51 paralog B gene DOID:630 genetic disease ISO RGD:1344706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264952 RAD51B RAD51 paralog B gene DOID:9000357 Male Breast Neoplasms ISO RGD:1344706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23001122 12264952 RAD51B RAD51 paralog B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344706 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:24139550|PMID:25741868|PMID:26845104|PMID:26898890|PMID:28492532 12264952 RAD51B RAD51 paralog B gene DOID:9008939 Breast Neoplasms ISO RGD:1344706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19330030 12264978 ADAM28 ADAM metallopeptidase domain 28 gene DOID:0060075 estrogen-receptor positive breast cancer ISO RGD:1347348 D RGD:9068941 20220804 RGD DNA:hypermethylation: PMID:25620615|REF_RGD_ID:153298970 12264978 ADAM28 ADAM metallopeptidase domain 28 gene DOID:1612 breast cancer exacerbates ISO RGD:1347348 D RGD:9068941 20220728 RGD PMID:19549921|REF_RGD_ID:153298911 12264978 ADAM28 ADAM metallopeptidase domain 28 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 12264978 ADAM28 ADAM metallopeptidase domain 28 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1347348 D RGD:9068941 20220728 RGD DNA:hypermethylation:CpG island PMID:19549921|REF_RGD_ID:153298911 12264978 ADAM28 ADAM metallopeptidase domain 28 gene DOID:3459 breast carcinoma ISO RGD:1347348 D RGD:9068941 20220728 RGD protein:increased expression:breast PMID:29882245|REF_RGD_ID:153297792 12264978 ADAM28 ADAM metallopeptidase domain 28 gene DOID:3571 liver cancer ISO RGD:1347348 D RGD:9068941 20220728 RGD mRNA:increased expression:liver PMID:32782619|REF_RGD_ID:153297784 12264978 ADAM28 ADAM metallopeptidase domain 28 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1347348 D RGD:9068941 20220728 RGD DNA:hypermethylation:promoter PMID:21429053|REF_RGD_ID:153298914 12264978 ADAM28 ADAM metallopeptidase domain 28 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1347348 D RGD:9068941 20220728 RGD PMID:22354764|REF_RGD_ID:153297789 12264978 ADAM28 ADAM metallopeptidase domain 28 gene DOID:3910 lung adenocarcinoma ISO RGD:1347348 D RGD:9068941 20220728 RGD protein:increased expression:lung PMID:29882245|REF_RGD_ID:153297792 12264978 ADAM28 ADAM metallopeptidase domain 28 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1347348 D RGD:9068941 20220728 RGD PMID:30190423|REF_RGD_ID:153297795 12264978 ADAM28 ADAM metallopeptidase domain 28 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1347348 D RGD:9068941 20220728 RGD PMID:26800504|REF_RGD_ID:11531771 12264978 ADAM28 ADAM metallopeptidase domain 28 gene DOID:3910 lung adenocarcinoma treatment ISO RGD:1347348 D RGD:9068941 20220728 RGD PMID:20112342|REF_RGD_ID:153297794 12264978 ADAM28 ADAM metallopeptidase domain 28 gene DOID:630 genetic disease ISO RGD:1347348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12264978 ADAM28 ADAM metallopeptidase domain 28 gene DOID:7596 asbestos-related lung carcinoma ISO RGD:1347348 D RGD:9068941 20220728 RGD associated with lung adenocarcinoma ;mRNA:increased expression:lung PMID:20544843|REF_RGD_ID:153298907 12264978 ADAM28 ADAM metallopeptidase domain 28 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1347348 D RGD:9068941 20220804 RGD associated with breast cancer;DNA:hypermethylation: PMID:25620615|REF_RGD_ID:153298970 12264978 ADAM28 ADAM metallopeptidase domain 28 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 12264978 ADAM28 ADAM metallopeptidase domain 28 gene DOID:9005172 Lung Neoplasms ISO RGD:1347348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20544843 12264978 ADAM28 ADAM metallopeptidase domain 28 gene DOID:9009121 lung metastasis ameliorates ISO RGD:1347348 D RGD:9068941 20220728 RGD associated with lung adenocarcinoma; PMID:26800504|REF_RGD_ID:11531771 12264978 ADAM28 ADAM metallopeptidase domain 28 gene DOID:9009121 lung metastasis ameliorates ISO RGD:1347348 D RGD:9068941 20220728 RGD associated with lung carcinoma, breast carcinoma PMID:22636800|REF_RGD_ID:153297785 12264978 ADAM28 ADAM metallopeptidase domain 28 gene DOID:9256 colorectal cancer ISO RGD:1347348 D RGD:9068941 20220728 RGD mRNA,protein:decreased expression:colorectum PMID:27661126|REF_RGD_ID:153298906 12264978 ADAM28 ADAM metallopeptidase domain 28 gene DOID:9256 colorectal cancer severity ISO RGD:1347348 D RGD:9068941 20220728 RGD PMID:31565100|REF_RGD_ID:153298908 12265009 C16H8orf48 chromosome 16 C8orf48 homolog gene DOID:630 genetic disease ISO RGD:2304146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265014 CLPX caseinolytic mitochondrial matrix peptidase chaperone subunit X gene DOID:0110935 nemaline myopathy 6 ISO RGD:1312578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12265014 CLPX caseinolytic mitochondrial matrix peptidase chaperone subunit X gene DOID:2717 Bloom syndrome ISO RGD:1312578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12265014 CLPX caseinolytic mitochondrial matrix peptidase chaperone subunit X gene DOID:630 genetic disease ISO RGD:1312578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12265014 CLPX caseinolytic mitochondrial matrix peptidase chaperone subunit X gene DOID:9009003 Erythropoietic Protoporphyria 2 ISO RGD:1312578 D RGD:7240710 20190315 OMIM 12265014 CLPX caseinolytic mitochondrial matrix peptidase chaperone subunit X gene DOID:9009003 Erythropoietic Protoporphyria 2 ISO RGD:1312578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 2 PMID:25741868|PMID:28492532|PMID:28874591 12265014 CLPX caseinolytic mitochondrial matrix peptidase chaperone subunit X gene DOID:9256 colorectal cancer ISO RGD:1312578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12265032 TUBE1 tubulin epsilon 1 gene DOID:630 genetic disease ISO RGD:1314442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265048 CLCA2 chloride channel accessory 2 gene DOID:630 genetic disease ISO RGD:1312594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265048 CLCA2 chloride channel accessory 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1312594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12265073 ZNF461 zinc finger protein 461 gene DOID:630 genetic disease ISO RGD:1601731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265091 RAD9B RAD9 checkpoint clamp component B gene DOID:0080074 neural tube defect ISO RGD:1317874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect 12265091 RAD9B RAD9 checkpoint clamp component B gene DOID:630 genetic disease ISO RGD:1317874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265113 CNPPD1 cyclin Pas1/PHO80 domain containing 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1343498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12265113 CNPPD1 cyclin Pas1/PHO80 domain containing 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1343498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12265113 CNPPD1 cyclin Pas1/PHO80 domain containing 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1343498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12265113 CNPPD1 cyclin Pas1/PHO80 domain containing 1 gene DOID:1148 polydactyly ISO RGD:1343498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 12265113 CNPPD1 cyclin Pas1/PHO80 domain containing 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1343498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12265113 CNPPD1 cyclin Pas1/PHO80 domain containing 1 gene DOID:630 genetic disease ISO RGD:1343498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265113 CNPPD1 cyclin Pas1/PHO80 domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12265113 CNPPD1 cyclin Pas1/PHO80 domain containing 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1343498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 12265143 MIR504 microRNA mir-504 gene DOID:12849 autistic disorder ISO RGD:1603434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12265189 P2RY13 purinergic receptor P2Y13 gene DOID:0050579 glycogen storage disease XV ISO RGD:1602708 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12265189 P2RY13 purinergic receptor P2Y13 gene DOID:630 genetic disease ISO RGD:1602708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265224 PSEN1 presenilin 1 gene DOID:0050700 cardiomyopathy ISO RGD:731724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29068127 12265224 PSEN1 presenilin 1 gene DOID:0081292 traumatic brain injury ISO RGD:735973 D RGD:9068941 20200609 RGD PMID:18240300|REF_RGD_ID:13801189 12265224 PSEN1 presenilin 1 gene DOID:0110040 Alzheimer's disease 4 ISO RGD:731724 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Alzheimer disease 4 PMID:10468510|PMID:11395394|PMID:12552037|PMID:14743455|PMID:15205973|PMID:16267640|PMID:17188713|PMID:20301414|PMID:23539189|PMID:25108559|PMID:26410308|PMID:26467025|PMID:27014028|PMID:27777022|PMID:27930341|PMID:28350801|PMID:28492532|PMID:29494861|PMID:29661148|PMID:30045758|PMID:30528841|PMID:30598257|PMID:31109937|PMID:32917274|PMID:34389718|PMID:8910898|PMID:9189043|PMID:9437013|PMID:9804121 12265224 PSEN1 presenilin 1 gene DOID:0110042 Alzheimer's disease 3 ISO RGD:731724 D RGD:7240710 20180130 OMIM 12265224 PSEN1 presenilin 1 gene DOID:0110042 Alzheimer's disease 3 ISO RGD:731724 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Alzheimer disease 3 | ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance PMID:10090481|PMID:10327206|PMID:10401002|PMID:10430510|PMID:10441572|PMID:10448055|PMID:10468510|PMID:10525535|PMID:10548420|PMID:10594046|PMID:10631141|PMID:10643802|PMID:10720282|PMID:10764737|PMID:10811883|PMID:11027672|PMID:11070093|PMID:11079548|PMID:11094121|PMID:11094128|PMID:11102478|PMID:11124426|PMID:11126202|PMID:11198283|PMID:11389157|PMID:11395394|PMID:11402113|PMID:11432849|PMID:11504726|PMID:11524469|PMID:11568920|PMID:11684347|PMID:11710891|PMID:11796781|PMID:11836371|PMID:11895378|PMID:11959395|PMID:11978814|PMID:12048239|PMID:12119298|PMID:12192622|PMID:12370477|PMID:12433263|PMID:12484344|PMID:12493737|PMID:12552037|PMID:12660785|PMID:12752408|PMID:12805290|PMID:12810495|PMID:12817569|PMID:12885573|PMID:12891668|PMID:14557582|PMID:14743455|PMID:14769392|PMID:14966176|PMID:15003276|PMID:15004326|PMID:15115757|PMID:15122701|PMID:15205973|PMID:15337637|PMID:15534260|PMID:15622541|PMID:15718035|PMID:15772361|PMID:15776278|PMID:16033913|PMID:16116115|PMID:16216949|PMID:16227967|PMID:16267640|PMID:16344340|PMID:16533963|PMID:16534109|PMID:16628450|PMID:16651627|PMID:16669732|PMID:16710641|PMID:16752394|PMID:16805926|PMID:16897084|PMID:16923167|PMID:16930450|PMID:16941492|PMID:16952411|PMID:17108687|PMID:17186461|PMID:17254019|PMID:17320044|PMID:17366635|PMID:17431506|PMID:17493013|PMID:17502474|PMID:17553989|PMID:17576681|PMID:17615170|PMID:17854491|PMID:17931627|PMID:17962197|PMID:17968601|PMID:18350357|PMID:18525293|PMID:18580586|PMID:18587238|PMID:18637955|PMID:18667258|PMID:18797263|PMID:19005074|PMID:19021905|PMID:19111578|PMID:19196715|PMID:19276550|PMID:19276551|PMID:19457079|PMID:19555742|PMID:19659892|PMID:19667325|PMID:19849793|PMID:1985297|PMID:19915487|PMID:20047059|PMID:20083199|PMID:20145736|PMID:20157243|PMID:20164095|PMID:20194882|PMID:2025423|PMID:20301414|PMID:20332427|PMID:20484632|PMID:20628413|PMID:20634584|PMID:20729396|PMID:21094210|PMID:21357415|PMID:21373759|PMID:21685457|PMID:21725313|PMID:21726674|PMID:21822699|PMID:21919498|PMID:21952501|PMID:21959359|PMID:22118943|PMID:22188655|PMID:22232349|PMID:22306804|PMID:22312439|PMID:22343824|PMID:22426017|PMID:22460587|PMID:22461631|PMID:22475797|PMID:22503161|PMID:22505025|PMID:22508690|PMID:22572737|PMID:22581678|PMID:22584618|PMID:22689192|PMID:22810102|PMID:22906081|PMID:23085935|PMID:23114514|PMID:23341831|PMID:23380992|PMID:23383383|PMID:23409063|PMID:23539189|PMID:23570890|PMID:23579325|PMID:23588422|PMID:23705774|PMID:23861362|PMID:23885714|PMID:23990795|PMID:24093083|PMID:24121961|PMID:24158021|PMID:24304563|PMID:24352661|PMID:24463146|PMID:24698269|PMID:24860142|PMID:24928124|PMID:25182737|PMID:25239621|PMID:25299611|PMID:25326637|PMID:25333068|PMID:25471389|PMID:25741868|PMID:25921538|PMID:25937274|PMID:25959826|PMID:26051801|PMID:26166206|PMID:26214276|PMID:26242991|PMID:26243271|PMID:26337232|PMID:26438723|PMID:26462451|PMID:26467025|PMID:26481686|PMID:26756738|PMID:26826204|PMID:26888304|PMID:26925509|PMID:27014058|PMID:27073747|PMID:27264813|PMID:27312774|PMID:27345973|PMID:27357204|PMID:27454811|PMID:27535542|PMID:27540966|PMID:27614114|PMID:27622770|PMID:27644130|PMID:27777022|PMID:27810638|PMID:27836335|PMID:27930341|PMID:28269784|PMID:28323683|PMID:28350801|PMID:28492532|PMID:28550247|PMID:28554858|PMID:29091718|PMID:29316780|PMID:29874583|PMID:30054184|PMID:30412504|PMID:30567237|PMID:30590039|PMID:30745123|PMID:30797548|PMID:30924900|PMID:31153663|PMID:31235249|PMID:31440394|PMID:31536626|PMID:31686034|PMID:31914229|PMID:31996268|PMID:32032730|PMID:32087291|PMID:32556937|PMID:32894632|PMID:33203472|PMID:33440141|PMID:33918046|PMID:7550356|PMID:7581374|PMID:7585193|PMID:7596406|PMID:7623584|PMID:7942850|PMID:8538334|PMID:8634711|PMID:8634712|PMID:8733303|PMID:8733749|PMID:8755489|PMID:8773614|PMID:8837617|PMID:8910898|PMID:8931704|PMID:8986743|PMID:9007097|PMID:9007311|PMID:9051814|PMID:9052708|PMID:9126060|PMID:9172170|PMID:9189043|PMID:9292884|PMID:9384602|PMID:9436726|PMID:9443865|PMID:9450754|PMID:9507958|PMID:9521423 12265224 PSEN1 presenilin 1 gene DOID:0110042 Alzheimer's disease 3 ISO RGD:731724 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Alzheimer disease 3 | ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance PMID:9536098|PMID:9540849|PMID:9544835|PMID:9546792|PMID:9712537|PMID:9728730|PMID:9804121|PMID:9811326|PMID:9831473|PMID:9851443|PMID:9851450|PMID:9915968 12265224 PSEN1 presenilin 1 gene DOID:0110042 Alzheimer's disease 3 ISO RGD:731724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 | ClinVar Annotator: match by term: Alzheimer disease 3 | ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance PMID:10075646|PMID:10090481|PMID:10327206|PMID:10366599|PMID:10401002|PMID:10430510|PMID:10439444|PMID:10441572|PMID:10447269|PMID:10448055|PMID:10468510|PMID:10502791|PMID:10525535|PMID:10533070|PMID:10548420|PMID:10549825|PMID:10594046|PMID:10631141|PMID:10643802|PMID:10720282|PMID:10754226|PMID:10764737|PMID:10775535|PMID:10783295|PMID:10811883|PMID:10854108|PMID:11013240|PMID:11027672|PMID:11043553|PMID:11070093|PMID:11079548|PMID:11094121|PMID:11094128|PMID:11102478|PMID:11124426|PMID:11126202|PMID:11198283|PMID:11389157|PMID:11395394|PMID:11402113|PMID:11432849|PMID:11504726|PMID:11524469|PMID:11568920|PMID:11684347|PMID:11701593|PMID:11710891|PMID:11764087|PMID:11796781|PMID:11836371|PMID:11895378|PMID:11959395|PMID:11978814|PMID:11992262|PMID:12048239|PMID:12111359|PMID:12119298|PMID:12192622|PMID:12370477|PMID:12392798|PMID:12433263|PMID:12484344|PMID:12493631|PMID:12493737|PMID:12552037|PMID:12615638|PMID:12660785|PMID:12752408|PMID:12805290|PMID:12810495|PMID:12817569|PMID:12885573|PMID:12891668|PMID:14557582|PMID:14623725|PMID:14743455|PMID:14769392|PMID:14966176|PMID:15003276|PMID:15004326|PMID:15094846|PMID:15115757|PMID:15119739|PMID:15122701|PMID:15205973|PMID:15272895|PMID:15337637|PMID:15534260|PMID:15622541|PMID:15718035|PMID:15772361|PMID:15776278|PMID:16033913|PMID:16116115|PMID:16199547|PMID:16216949|PMID:16227967|PMID:16267640|PMID:16344340|PMID:16533963|PMID:16534109|PMID:16628450|PMID:16651627|PMID:16669732|PMID:16710641|PMID:16752394|PMID:16897084|PMID:16923167|PMID:16930450|PMID:16941492|PMID:16948293|PMID:16952411|PMID:16959576|PMID:17108687|PMID:17186461|PMID:17188713|PMID:17197420|PMID:17254019|PMID:17288597|PMID:17320044|PMID:17366635|PMID:17431506|PMID:17493013|PMID:17502474|PMID:17545141|PMID:17553989|PMID:17576681|PMID:17615170|PMID:17854491|PMID:17931627|PMID:17962197|PMID:17968601|PMID:18024701|PMID:18350357|PMID:18479822|PMID:18525293|PMID:18580586|PMID:18587238|PMID:18637955|PMID:18667258|PMID:18760694|PMID:18797263|PMID:19005074|PMID:19021905|PMID:19111578|PMID:19196715|PMID:19276550|PMID:19276551|PMID:19430857|PMID:19457079|PMID:19555742|PMID:19659892|PMID:19667325|PMID:19776335|PMID:19849793|PMID:1985297|PMID:19912322|PMID:19915487|PMID:20047059|PMID:20083199|PMID:20145736|PMID:20157243|PMID:20164095|PMID:20194882|PMID:20205669|PMID:2025423|PMID:20301414|PMID:20332427|PMID:20481270|PMID:20484632|PMID:20628413|PMID:20634584|PMID:20729396|PMID:20847418|PMID:21094210|PMID:21357415|PMID:21373759|PMID:21422519|PMID:21559198|PMID:21559374|PMID:21685457|PMID:21725313|PMID:21726674|PMID:21822699|PMID:21919498|PMID:21952501|PMID:21959359|PMID:22115042|PMID:22118943|PMID:22188655|PMID:22232349|PMID:22306804|PMID:22312439|PMID:22343824|PMID:22426017|PMID:22460587|PMID:22461631|PMID:22475797|PMID:22503161|PMID:22505025|PMID:22508690|PMID:22517194|PMID:22572737|PMID:22581678|PMID:22584618|PMID:22689192|PMID:22766738|PMID:22810102|PMID:22906081|PMID:23085935|PMID:23114514|PMID:23123781|PMID:23341831|PMID:23380992|PMID:23383383|PMID:23409063|PMID:23483213|PMID:23539189|PMID:23570890|PMID:23579325|PMID:23588422|PMID:23638752|PMID:23705774|PMID:23752245|PMID:23792692|PMID:23843529|PMID:23850332|PMID:23861362|PMID:23885714|PMID:23990795|PMID:24011544|PMID:24093083|PMID:24121961|PMID:24158021|PMID:24217025|PMID:24304563|PMID:24352661|PMID:24418614|PMID:24463146|PMID:24625695|PMID:24698269|PMID:24773620|PMID:24860142|PMID:24880964|PMID:24918054|PMID:24928124|PMID:25027006|PMID:25108559|PMID:25174650|PMID:25182737|PMID:25239621|PMID:25299611|PMID:25326637|PMID:25333068|PMID:25471389|PMID:25741723|PMID:25741868|PMID:25921538|PMID:25937274|PMID:25959826|PMID:26051801|PMID:26166206|PMID:26194182|PMID:26214276|PMID:26242991|PMID:26243271|PMID:26337232|PMID:26396515|PMID:26410308|PMID:26438723|PMID:26462451|PMID:26467025|PMID:26481686|PMID:26549787|PMID:26756738|PMID:26826204|PMID:26888304|PMID:26923592|PMID:26925509|PMID:27014028|PMID:27014058|PMID:27073747|PMID:27100199|PMID:27100200|PMID:27206484 12265224 PSEN1 presenilin 1 gene DOID:0110042 Alzheimer's disease 3 ISO RGD:731724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 | ClinVar Annotator: match by term: Alzheimer disease 3 | ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance PMID:27264813|PMID:27312774|PMID:27345973|PMID:27357204|PMID:27454811|PMID:27535542|PMID:27540966|PMID:27614114|PMID:27622770|PMID:27644130|PMID:27730373|PMID:27777022|PMID:27793474|PMID:27810638|PMID:27836335|PMID:27926491|PMID:2793034|PMID:27930341|PMID:28008242|PMID:28082723|PMID:28269784|PMID:28323683|PMID:28350801|PMID:28492532|PMID:28532646|PMID:28550247|PMID:28554858|PMID:28749476|PMID:28753424|PMID:29091718|PMID:29142009|PMID:29316780|PMID:29404783|PMID:29494861|PMID:29525180|PMID:29571857|PMID:29661148|PMID:29874583|PMID:30021643|PMID:30045758|PMID:30054184|PMID:30090657|PMID:30138848|PMID:30200536|PMID:30279455|PMID:30412504|PMID:30528841|PMID:30567237|PMID:30590039|PMID:30598257|PMID:30630874|PMID:30716424|PMID:30745123|PMID:30797548|PMID:30814350|PMID:30822634|PMID:30924900|PMID:30954774|PMID:31109937|PMID:31153663|PMID:31235249|PMID:31381512|PMID:31440394|PMID:31536626|PMID:31686034|PMID:31914229|PMID:31996268|PMID:32032730|PMID:32087291|PMID:32103039|PMID:32395715|PMID:32556937|PMID:32590294|PMID:32594361|PMID:32894632|PMID:32917274|PMID:33188013|PMID:33188256|PMID:33203472|PMID:33274538|PMID:33440141|PMID:33571524|PMID:33855944|PMID:33918046|PMID:34220489|PMID:34319632|PMID:34389718|PMID:34776449|PMID:35260199|PMID:7550356|PMID:7581374|PMID:7585193|PMID:7596406|PMID:7623584|PMID:7651536|PMID:7824141|PMID:7942850|PMID:8538334|PMID:8634711|PMID:8634712|PMID:8733303|PMID:8733749|PMID:8755489|PMID:8773614|PMID:8837617|PMID:8910898|PMID:8931704|PMID:8986743|PMID:9007097|PMID:9007311|PMID:9051814|PMID:9052708|PMID:9126060|PMID:9172170|PMID:9189043|PMID:9196071|PMID:9225696|PMID:9292884|PMID:9384602|PMID:9436726|PMID:9437013|PMID:9443865|PMID:9450754|PMID:9452052|PMID:9502232|PMID:9507958|PMID:9521418|PMID:9521423|PMID:9536098|PMID:9540849|PMID:9544835|PMID:9546792|PMID:9680315|PMID:9712537|PMID:9728730|PMID:9804121|PMID:9811326|PMID:9831473|PMID:9833068|PMID:9851443|PMID:9851450|PMID:9915968 12265224 PSEN1 presenilin 1 gene DOID:0110455 dilated cardiomyopathy 1U ISO RGD:731724 D RGD:7240710 20180130 OMIM 12265224 PSEN1 presenilin 1 gene DOID:0110455 dilated cardiomyopathy 1U ISO RGD:731724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1U PMID:10643802|PMID:11524469|PMID:12192622|PMID:15003276|PMID:16033913|PMID:16216949|PMID:16669732|PMID:16923167|PMID:16952411|PMID:17186461|PMID:17854491|PMID:18350357|PMID:18525293|PMID:18667258|PMID:19111578|PMID:19659892|PMID:20194882|PMID:21959359|PMID:22503161|PMID:22810102|PMID:22906081|PMID:23861362|PMID:23990795|PMID:25333068|PMID:25741868|PMID:25937274|PMID:26166206|PMID:26242991|PMID:26467025|PMID:27312774|PMID:27357204|PMID:27535542|PMID:27644130|PMID:27930341|PMID:28350801|PMID:28492532|PMID:28554858|PMID:8773614|PMID:9384602|PMID:9851443|PMID:9851450|PMID:9915968 12265224 PSEN1 presenilin 1 gene DOID:1059 intellectual disability ISO RGD:731724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12265224 PSEN1 presenilin 1 gene DOID:10652 Alzheimer's disease ISO RGD:731724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease | ClinVar Annotator: match by term: Familial Alzheimer disease PMID:10075646|PMID:10208579|PMID:10643802|PMID:11198283|PMID:11389157|PMID:11524469|PMID:12192622|PMID:12615638|PMID:15003276|PMID:16033913|PMID:16216949|PMID:16267640|PMID:16669732|PMID:16923167|PMID:16952411|PMID:17854491|PMID:18350357|PMID:18525293|PMID:18667258|PMID:19111578|PMID:19659892|PMID:20008660|PMID:20194882|PMID:20802216|PMID:21959359|PMID:22810102|PMID:22906081|PMID:23638752|PMID:23861362|PMID:23990795|PMID:25333068|PMID:25741868|PMID:25937274|PMID:26166206|PMID:26194182|PMID:26242991|PMID:26467025|PMID:27312774|PMID:27357204|PMID:27535542|PMID:27644130|PMID:27777022|PMID:27930341|PMID:28082723|PMID:28350801|PMID:28492532|PMID:28554858|PMID:28749476|PMID:29142009|PMID:30090657|PMID:30279455|PMID:32588886|PMID:33769986|PMID:34603009|PMID:8773614|PMID:9384602|PMID:9452052|PMID:9851443|PMID:9851450|PMID:9915968 12265224 PSEN1 presenilin 1 gene DOID:11088 asphyxia neonatorum ISO RGD:731724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963755 12265224 PSEN1 presenilin 1 gene DOID:11870 Pick's disease ISO RGD:731724 D RGD:7240710 20180130 OMIM 12265224 PSEN1 presenilin 1 gene DOID:11870 Pick's disease ISO RGD:731724 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pick Disease of the Brain | ClinVar Annotator: match by term: Pick disease PMID:11389157|PMID:15122701|PMID:20301414|PMID:25741868|PMID:28492532|PMID:9450754 12265224 PSEN1 presenilin 1 gene DOID:1289 neurodegenerative disease ISO RGD:731724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23541064 12265224 PSEN1 presenilin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:731724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11389157|PMID:17186461|PMID:25741868|PMID:28492532 12265224 PSEN1 presenilin 1 gene DOID:1561 cognitive disorder ISO RGD:731724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26945731 12265224 PSEN1 presenilin 1 gene DOID:630 genetic disease ISO RGD:731724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12265224 PSEN1 presenilin 1 gene DOID:8927 learning disability ISO RGD:731724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25213453 12265224 PSEN1 presenilin 1 gene DOID:9002350 Hereditary Hemorrhagic Telangiectasia, Type 1 ISO RGD:731724 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 PMID:25741868|PMID:29142009|PMID:30822634|PMID:32235595 12265224 PSEN1 presenilin 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:735973 D RGD:9068941 20200609 RGD PMID:16079160|REF_RGD_ID:1580694 12265224 PSEN1 presenilin 1 gene DOID:9002720 Splenomegaly ISO RGD:731724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27117003 12265224 PSEN1 presenilin 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:731724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mental deterioration PMID:10327206|PMID:10441572|PMID:11102478|PMID:11836371|PMID:11959395|PMID:11978814|PMID:16033913|PMID:16651627|PMID:16941492|PMID:19021905|PMID:19849793|PMID:20083199|PMID:20634584|PMID:21685457|PMID:21726674|PMID:22188655|PMID:22475797|PMID:22503161|PMID:22572737|PMID:23539189|PMID:23579325|PMID:23705774|PMID:24158021|PMID:25741868|PMID:26438723|PMID:26467025|PMID:26481686|PMID:26756738|PMID:27777022|PMID:27930341|PMID:28350801|PMID:28492532|PMID:7585193|PMID:8634712|PMID:9172170|PMID:9521423 12265224 PSEN1 presenilin 1 gene DOID:9002955 Nerve Degeneration ISO RGD:731724 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:19522546|PMID:33971107 12265224 PSEN1 presenilin 1 gene DOID:9003065 Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia ISO RGD:731724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and apraxia PMID:11920851|PMID:15534188|PMID:25741868 12265224 PSEN1 presenilin 1 gene DOID:9003104 Intracranial Hemorrhages ISO RGD:735973 D RGD:9068941 20200609 RGD PMID:9160754|REF_RGD_ID:1302520 12265224 PSEN1 presenilin 1 gene DOID:9003126 Hallucinations ISO RGD:731724 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Visual hallucinations PMID:25741868 12265224 PSEN1 presenilin 1 gene DOID:9003829 Familial Acne Inversa 3 ISO RGD:731724 D RGD:7240710 20210721 OMIM 12265224 PSEN1 presenilin 1 gene DOID:9003829 Familial Acne Inversa 3 ISO RGD:731724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acne inversa, familial, 3 PMID:11389157|PMID:20929727|PMID:25741868|PMID:28492532 12265224 PSEN1 presenilin 1 gene DOID:9005832 Amyloid Plaques ISO RGD:731724 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33096116 12265224 PSEN1 presenilin 1 gene DOID:9006051 Alzheimer's Disease, Familial, 3, with Spastic Paraparesis ISO RGD:731724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease familial 3, with spastic paraparesis PMID:24121961|PMID:25741868 12265224 PSEN1 presenilin 1 gene DOID:9006129 Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques ISO RGD:731724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques | ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with unusual plaques | ClinVar Annotator: match by term: Alzheimer disease, familial, with spastic paraparesis and unusual plaques PMID:10720282|PMID:11198283|PMID:11524469|PMID:12111359|PMID:12370477|PMID:12493737|PMID:14557582|PMID:15159497|PMID:15732120|PMID:16033913|PMID:19667325|PMID:20634584|PMID:22461631|PMID:22766738|PMID:24217025|PMID:25471389|PMID:25741868|PMID:27777022|PMID:27930341|PMID:28350801|PMID:28492532|PMID:33440141|PMID:7550356|PMID:8733749|PMID:8755489|PMID:9172170|PMID:9546792 12265224 PSEN1 presenilin 1 gene DOID:9006205 Animal Disease Models ISO RGD:731724 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:16651627|PMID:27567873 12265224 PSEN1 presenilin 1 gene DOID:9006478 Amyloid Neuropathies ISO RGD:731724 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:27567873 12265224 PSEN1 presenilin 1 gene DOID:9006534 Nervous System Malformations ISO RGD:731724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:9172170 12265224 PSEN1 presenilin 1 gene DOID:9007402 Gliosis ISO RGD:731724 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:27567873 12265224 PSEN1 presenilin 1 gene DOID:9008023 Memory Disorders ISO RGD:731724 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:25213453|PMID:27567873|PMID:28448946 12265224 PSEN1 presenilin 1 gene DOID:9008895 Familial Hidradenitis Suppurativa ISO RGD:731724 D RGD:9068941 20210723 CTD CTD Direct Evidence: marker/mechanism PMID:20929727 12265224 PSEN1 presenilin 1 gene DOID:9120 amyloidosis ISO RGD:731724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23541064 12265224 PSEN1 presenilin 1 gene DOID:9255 frontotemporal dementia ISO RGD:731724 D RGD:7240710 20180130 OMIM 12265224 PSEN1 presenilin 1 gene DOID:9255 frontotemporal dementia ISO RGD:731724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS | ClinVar Annotator: match by term: Frontotemporal dementia PMID:11094121|PMID:11389157|PMID:11895378|PMID:12399144|PMID:15776278|PMID:17431506|PMID:20301414|PMID:20332427|PMID:20634584|PMID:22475797|PMID:25741868|PMID:26467025|PMID:26756738|PMID:28492532|PMID:30279455|PMID:31153663 12265252 MRPL18 mitochondrial ribosomal protein L18 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1314973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 12265252 MRPL18 mitochondrial ribosomal protein L18 gene DOID:630 genetic disease ISO RGD:1314973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265263 ACY1 aminoacylase 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1351880 D RGD:9068941 20201127 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12265263 ACY1 aminoacylase 1 gene DOID:1059 intellectual disability ISO RGD:1351880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12265263 ACY1 aminoacylase 1 gene DOID:4450 renal cell carcinoma ISO RGD:1351880 D RGD:9068941 20201127 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 12265263 ACY1 aminoacylase 1 gene DOID:630 genetic disease ISO RGD:1351880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16274666|PMID:16465618|PMID:17562838|PMID:20480396|PMID:21414403|PMID:24997716|PMID:25741868|PMID:26686503|PMID:28492532|PMID:29653693 12265263 ACY1 aminoacylase 1 gene DOID:9003016 Aminoacylase 1 Deficiency ISO RGD:1351880 D RGD:7240710 20201125 OMIM 12265263 ACY1 aminoacylase 1 gene DOID:9003016 Aminoacylase 1 Deficiency ISO RGD:1351880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aminoacylase 1 deficiency PMID:16274666|PMID:16465618|PMID:17562838|PMID:20480396|PMID:21414403|PMID:24117009|PMID:24997716|PMID:25741868|PMID:26686503|PMID:28492532|PMID:29653693|PMID:31980526 12265282 GOT2 glutamic-oxaloacetic transaminase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:734091 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:25741868|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059|PMID:31422819 12265282 GOT2 glutamic-oxaloacetic transaminase 2 gene DOID:0080715 developmental and epileptic encephalopathy 82 ISO RGD:734091 D RGD:7240710 20200101 OMIM 12265282 GOT2 glutamic-oxaloacetic transaminase 2 gene DOID:0080715 developmental and epileptic encephalopathy 82 ISO RGD:734091 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 82 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82 PMID:25741868|PMID:28492532|PMID:31422819 12265282 GOT2 glutamic-oxaloacetic transaminase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:734091 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:25741868|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059|PMID:31422819 12265282 GOT2 glutamic-oxaloacetic transaminase 2 gene DOID:1289 neurodegenerative disease ISO RGD:2722 D RGD:9068941 20200609 RGD protein:decreased expression:striatum (rat) PMID:26631339|REF_RGD_ID:11352733 12265282 GOT2 glutamic-oxaloacetic transaminase 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:734091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12265282 GOT2 glutamic-oxaloacetic transaminase 2 gene DOID:3021 acute kidney failure ISO RGD:2722 D RGD:9068941 20200609 RGD protein:decreased activity:kidney (rat) PMID:23924727|REF_RGD_ID:13506245 12265282 GOT2 glutamic-oxaloacetic transaminase 2 gene DOID:5419 schizophrenia ISO RGD:2722 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex (rat) PMID:23942359|REF_RGD_ID:11571618 12265282 GOT2 glutamic-oxaloacetic transaminase 2 gene DOID:630 genetic disease ISO RGD:734091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12265282 GOT2 glutamic-oxaloacetic transaminase 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2722 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (rat) PMID:27150525|REF_RGD_ID:13506243 12265282 GOT2 glutamic-oxaloacetic transaminase 2 gene DOID:9004283 Transplant Rejection treatment ISO RGD:2722 D RGD:9068941 20200609 RGD PMID:28596681|REF_RGD_ID:13504864 12265282 GOT2 glutamic-oxaloacetic transaminase 2 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:2722 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (rat) PMID:19823174|REF_RGD_ID:4145499 12265282 GOT2 glutamic-oxaloacetic transaminase 2 gene DOID:9007956 Febrile Seizures ISO RGD:2722 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:24373994|REF_RGD_ID:13504853 12265282 GOT2 glutamic-oxaloacetic transaminase 2 gene DOID:9970 obesity ISO RGD:2722 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle tissue, T-tubule (rat) PMID:23743348|REF_RGD_ID:11041118 12265296 TRAF5 TNF receptor associated factor 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1605425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12265296 TRAF5 TNF receptor associated factor 5 gene DOID:630 genetic disease ISO RGD:1605425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265296 TRAF5 TNF receptor associated factor 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12265309 PABPC4L poly(A) binding protein cytoplasmic 4 like gene DOID:630 genetic disease ISO RGD:2290032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265314 ZNF227 zinc finger protein 227 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1351628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12265314 ZNF227 zinc finger protein 227 gene DOID:5419 schizophrenia ISO RGD:1351628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12265314 ZNF227 zinc finger protein 227 gene DOID:630 genetic disease ISO RGD:1351628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:0002116 pterygium susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.S326C (1245C>G, rs1052133) (human) PMID:14716324|REF_RGD_ID:8657375 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1353911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:0060058 lymphoma ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17441966 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:10283 prostate cancer susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.S326C (human) PMID:24649009|REF_RGD_ID:8657136 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:10283 prostate cancer susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.S326C (1245C>G) (rs1052133) (human) PMID:19914098|REF_RGD_ID:8657378 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:1070 primary open angle glaucoma ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:SNP: :p.S326C (human) PMID:23499241|REF_RGD_ID:8657152 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:1115 sarcoma ISO RGD:732766 D RGD:9068941 20200609 RGD PMID:16024598|REF_RGD_ID:8657138 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:114 heart disease ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21873502 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:12336 male infertility ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23376476 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:12361 Graves' disease ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:mutation:exon:p.S326C (1245C>G, rs1052133) (human) PMID:21465496|REF_RGD_ID:8657376 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:12858 Huntington's disease ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19857538 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:14115 toxic shock syndrome ISO RGD:732766 D RGD:9068941 20200609 RGD PMID:15677345|REF_RGD_ID:8657146 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:14330 Parkinson's disease ISO RGD:1353911 D RGD:9068941 20200609 RGD protein:increased expression:substantia nigra, neuron PMID:15841414|REF_RGD_ID:8657142 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:polymorphism: :11657A>G (human) PMID:16614128|REF_RGD_ID:8657149 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer ISO RGD:1353911 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:11536371|REF_RGD_ID:8657371 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer disease_progression ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:24395279|REF_RGD_ID:8657368 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer no_association ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr:c.-23A>G, c.-45G>A, c.-63G>C, (human) PMID:21153698|REF_RGD_ID:8657373 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer no_association ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.S326C (rs1052133) (human) PMID:16492928|REF_RGD_ID:8657157 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer no_association ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.R229Q (human) PMID:20183911|REF_RGD_ID:8657370 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer no_association ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.S326C, 7143A>G (human) PMID:16614128|REF_RGD_ID:8657149 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer no_association ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:transition:intron:IVS1+22G>A (human) PMID:11536371|REF_RGD_ID:8657371 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:SNP: :p.S326C (human) PMID:24606430|REF_RGD_ID:8657139 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2072668, p.S326C (human) PMID:24076439|REF_RGD_ID:8657140 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr:c.-18G>T, c.-53G>C (human) PMID:21153698|REF_RGD_ID:8657373 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:1749 squamous cell carcinoma ISO RGD:732766 D RGD:9068941 20200609 RGD PMID:16024598|REF_RGD_ID:8657138 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:1793 pancreatic cancer ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs1052133 (human) PMID:18559563|REF_RGD_ID:2317130 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:polymorphism: :2657G>A (human) PMID:17230526|REF_RGD_ID:2317132 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:1824 status epilepticus ISO RGD:621168 D RGD:9068941 20200609 RGD PMID:18295498|REF_RGD_ID:2317139 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:2237 hepatitis ISO RGD:621168 D RGD:9068941 20200609 RGD PMID:14633694|REF_RGD_ID:8657400 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:224 transient cerebral ischemia ISO RGD:621168 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:14600440|REF_RGD_ID:8657406 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:2394 ovarian cancer susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs2304277) (human) PMID:24698998|REF_RGD_ID:8657369 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:2513 basal cell carcinoma ISO RGD:1353911 D RGD:9068941 20200609 RGD PMID:22436579|REF_RGD_ID:8657137 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:2513 basal cell carcinoma no_association ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.S326C (rs1052133)(human) PMID:15466987|REF_RGD_ID:8657158 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:2671 transitional cell carcinoma severity ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.S326C (rs1052133) (human) PMID:22110223|REF_RGD_ID:8657372 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:2843 long QT syndrome ISO RGD:1353911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:299 adenocarcinoma ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19336973 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:3042 allergic contact dermatitis ISO RGD:732766 D RGD:9068941 20200609 RGD PMID:15677345|REF_RGD_ID:8657146 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:3314 angiomyolipoma ISO RGD:1353911 D RGD:9068941 20200609 RGD associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human) PMID:17932460|REF_RGD_ID:8657155 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:3314 angiomyolipoma ISO RGD:1353911 D RGD:9068941 20200609 RGD associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney PMID:19265534|REF_RGD_ID:8657154 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:3314 angiomyolipoma no_association ISO RGD:1353911 D RGD:9068941 20200609 RGD associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human) PMID:17932460|REF_RGD_ID:8657155 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:621168 D RGD:9068941 20200609 RGD associated with Hypertension PMID:17920569|REF_RGD_ID:8657395 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:37 skin disease ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759981 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:3770 pulmonary fibrosis ISO RGD:1353911 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35654123 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:3910 lung adenocarcinoma ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23951099 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:4450 renal cell carcinoma ISO RGD:1353911 D RGD:7240710 20180130 OMIM 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1353911 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:10987279|PMID:12172214|PMID:19537786|PMID:21195604|PMID:25741868|PMID:9681819 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1353911 D RGD:9068941 20200609 RGD PMID:11866974|REF_RGD_ID:2317134 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity (human) PMID:11260864|REF_RGD_ID:2317136 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29709520 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1353911 D RGD:9068941 20200609 RGD PMID:22081374|REF_RGD_ID:8657144 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:5520 head and neck squamous cell carcinoma susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:SNP: :rs1052133 (human) PMID:21727658|REF_RGD_ID:8657147 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:630 genetic disease ISO RGD:1353911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:678 progressive supranuclear palsy ISO RGD:1353911 D RGD:9068941 20200609 RGD protein:increased expression:pontine nucleus, neuron PMID:15841414|REF_RGD_ID:8657142 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:83 cataract susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:SNP: :p.S326C (rs1052133)(human) PMID:22306120|REF_RGD_ID:8657151 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9000011 Gallbladder Neoplasms susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2072668, p.S326C (rs1052133)(human) PMID:20564624|REF_RGD_ID:8657150 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9000011 Gallbladder Neoplasms susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.S326C (human) PMID:19266243|REF_RGD_ID:2317128 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9000081 Lymphatic Metastasis ISO RGD:1353911 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:missense mutation:cds:p.S326C (rs1052133) (human) PMID:18977234|REF_RGD_ID:8657156 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036326 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18768699 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:621168 D RGD:9068941 20200609 RGD PMID:23053977|REF_RGD_ID:8657403 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9002221 Hyperplasia ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19336973 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11956079|PMID:14634453 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24599382 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.S326C (rs1052133) (human) PMID:24599382|REF_RGD_ID:8657374 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9002955 Nerve Degeneration ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26629949 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9003507 Premature Birth ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29709520 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9004643 Urologic Neoplasms ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26359225 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9004814 Chromosome Aberrations ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036326 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9005172 Lung Neoplasms ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17441966|PMID:19336973 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621168 D RGD:9068941 20200609 RGD PMID:18599524|REF_RGD_ID:8657153 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621168 D RGD:9068941 20200609 RGD protein:altered localization:pancreatic islet PMID:18676009|REF_RGD_ID:2317137 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732766 D RGD:9068941 20200609 RGD PMID:15677345|REF_RGD_ID:8657146 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9005873 Tongue Neoplasms ISO RGD:1353911 D RGD:9068941 20200609 RGD protein:decreased expression:saliva PMID:19789535|REF_RGD_ID:8657148 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:621168 D RGD:9068941 20200609 RGD PMID:12531391|REF_RGD_ID:2317150 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9006779 Discoid Lupus Erythematosus ISO RGD:1353911 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:33072095 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9007023 Prenatal Injuries ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24075420 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9007715 Endometrial Neoplasms ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:mutation:exon:p.S326C (1245C>G, rs1052133) (human) PMID:22271435|REF_RGD_ID:8657377 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9007715 Endometrial Neoplasms no_association ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:mutation:exon:p.S326C (1245C>G, rs1052133) (human) PMID:22544315|REF_RGD_ID:8657379 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1353911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22652274 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353911 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic islet, mitochondrion PMID:12003641|REF_RGD_ID:2317133 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:936 brain disease ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24075420 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9669 senile cataract susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.S326C (human) PMID:24868140|REF_RGD_ID:10401084 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9923 developmental coordination disorder ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18768699 12265339 OGG1 8-oxoguanine DNA glycosylase gene DOID:9970 obesity ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29709520 12265350 TRIM59 tripartite motif containing 59 gene DOID:630 genetic disease ISO RGD:1349912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265350 TRIM59 tripartite motif containing 59 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12265368 GPRIN1 G protein regulated inducer of neurite outgrowth 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1606183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12265368 GPRIN1 G protein regulated inducer of neurite outgrowth 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1606183 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12265368 GPRIN1 G protein regulated inducer of neurite outgrowth 1 gene DOID:630 genetic disease ISO RGD:1606183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265368 GPRIN1 G protein regulated inducer of neurite outgrowth 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1606183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12265368 GPRIN1 G protein regulated inducer of neurite outgrowth 1 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1606183 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 12265373 FDXACB1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:2301592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 12265373 FDXACB1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:2301592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:25966638|PMID:28492532 12265373 FDXACB1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:2301592 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 12265373 FDXACB1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:1059 intellectual disability ISO RGD:2301592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12265373 FDXACB1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:12704 ataxia telangiectasia ISO RGD:2301592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12265373 FDXACB1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:630 genetic disease ISO RGD:2301592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265373 FDXACB1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:2301592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12265373 FDXACB1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:2301592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:0060180 colitis ISO RGD:1348941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colitis PMID:25741868|PMID:28492532 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:0060180 colitis severity ISO RGD:734236 D RGD:9068941 20200609 RGD protein:increased expression:T cells:constitutive expression of transgene increases severity PMID:17043423|REF_RGD_ID:5491188 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1348941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:11476 osteoporosis ISO RGD:734236 D RGD:9068941 20220825 MouseDO OMIM:166710 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:12556 acute kidney tubular necrosis ISO RGD:734236 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:9422398|REF_RGD_ID:7242901 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:13774 Addison's disease ISO RGD:1348941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18593762 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:13774 Addison's disease ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:rs8048002T>C PMID:18593762|REF_RGD_ID:5491177 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:2377 multiple sclerosis ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:c.1632G>C, rs4774 PMID:21653641|REF_RGD_ID:5491175 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:2377 multiple sclerosis no_association ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs3087456, no association in a German cohort PMID:16426246|REF_RGD_ID:5491189 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-168A>G PMID:15821736|REF_RGD_ID:1358146 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1348941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:399 tuberculosis susceptibility ISO RGD:734236 D RGD:9068941 20200609 RGD knockouts show increased susceptibility to infection by all available criteria including mycobacterial growth, lung damage and survival time PMID:12828554|REF_RGD_ID:5491205 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:5812 MHC class II deficiency ISO RGD:1348941 D RGD:7240710 20230510 OMIM 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:5812 MHC class II deficiency ISO RGD:1348941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome type 2, complementation group A | ClinVar Annotator: match by term: MHC class II deficiency PMID:11704716|PMID:11862382|PMID:15897313|PMID:16199547|PMID:17576681|PMID:24033266|PMID:24044430|PMID:25741868|PMID:26271388|PMID:27484032|PMID:28492532|PMID:29095814|PMID:8402893|PMID:9099848|PMID:9536098 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:5812 MHC class II deficiency severity ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:mutation:CDS:c.1524T>C, p.L469P associated with mild or asymptomatic disease despite absence of MHC-II expression on immune cells PMID:11466404|REF_RGD_ID:5491200 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:5844 myocardial infarction no_association ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-168A>G PMID:17183695|REF_RGD_ID:5491201 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:5844 myocardial infarction susceptibility ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-168A>G PMID:15821736|REF_RGD_ID:1358146 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:630 genetic disease ISO RGD:1348941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:676 juvenile rheumatoid arthritis no_association ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs3087456, no association in a German cohort PMID:16426246|REF_RGD_ID:5491189 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:676 juvenile rheumatoid arthritis susceptibility ISO RGD:1348941 D RGD:9068941 20200814 RGD DNA:polymorphism:exon:1614G>C (human) PMID:17661914|REF_RGD_ID:5491187 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:7148 rheumatoid arthritis ISO RGD:1348941 D RGD:7240710 20230510 OMIM 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:7148 rheumatoid arthritis ISO RGD:1348941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis PMID:15821736|PMID:16849401|PMID:25741868|PMID:28492532 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:7148 rheumatoid arthritis no_association ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs3087456, no association in a German cohort PMID:16426246|REF_RGD_ID:5491189 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1348941 D RGD:9068941 20230511 RGD DNA:polymorphism:promoter:-168A>G PMID:15821736|REF_RGD_ID:1358146 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:820 myocarditis ISO RGD:734236 D RGD:9068941 20200609 RGD Experimental autoimmune myocarditis; mRNA:antisense knockdown PMID:15808836|REF_RGD_ID:5491199 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:823 periapical periodontitis ISO RGD:619813 D RGD:9068941 20200609 RGD PMID:20478458|REF_RGD_ID:7242892 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:9001542 Albuminuria ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-168A>G, in non-diabetic subjects PMID:17183695|REF_RGD_ID:5491201 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:619813 D RGD:9068941 20200609 RGD PMID:15821736|REF_RGD_ID:1358146 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1348941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:734236 D RGD:9068941 20200609 RGD PMID:14569092|REF_RGD_ID:7242896 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:9006646 Metabolic Syndrome ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-168A>G PMID:17183695|REF_RGD_ID:5491201 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:9074 systemic lupus erythematosus ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:g.485A>G PMID:15897313|REF_RGD_ID:5491190 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs3087456 PMID:17711409|REF_RGD_ID:5491203 12265382 CIITA class II major histocompatibility complex transactivator gene DOID:9074 systemic lupus erythematosus resistance ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs3087456A, in a Japanese cohort A allele was protective/decreased risk of developing disease (p=0.006) PMID:17693604|REF_RGD_ID:5491204 12265431 ZNF598 zinc finger protein 598, E3 ubiquitin ligase gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1312605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 12265431 ZNF598 zinc finger protein 598, E3 ubiquitin ligase gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12265431 ZNF598 zinc finger protein 598, E3 ubiquitin ligase gene DOID:1826 epilepsy ISO RGD:1312605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12265431 ZNF598 zinc finger protein 598, E3 ubiquitin ligase gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12265431 ZNF598 zinc finger protein 598, E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1312605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265449 TCEAL3 transcription elongation factor A like 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12265449 TCEAL3 transcription elongation factor A like 3 gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:1346044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 PMID:10417279|PMID:16380909|PMID:18160035|PMID:19328639|PMID:28492532|PMID:9634530 12265449 TCEAL3 transcription elongation factor A like 3 gene DOID:12849 autistic disorder ISO RGD:1346044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12265449 TCEAL3 transcription elongation factor A like 3 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1346044 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:31690835|PMID:9633722|PMID:9634530 12265449 TCEAL3 transcription elongation factor A like 3 gene DOID:630 genetic disease ISO RGD:1346044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265449 TCEAL3 transcription elongation factor A like 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1346044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12265462 SLAMF7 SLAM family member 7 gene DOID:0080600 COVID-19 ISO RGD:1345987 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12265462 SLAMF7 SLAM family member 7 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1345987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12265462 SLAMF7 SLAM family member 7 gene DOID:1540 parathyroid carcinoma ISO RGD:1345987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12265462 SLAMF7 SLAM family member 7 gene DOID:630 genetic disease ISO RGD:1345987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265462 SLAMF7 SLAM family member 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12265478 DMBX1 diencephalon/mesencephalon homeobox 1 gene DOID:630 genetic disease ISO RGD:1317940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265478 DMBX1 diencephalon/mesencephalon homeobox 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1317940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 12265488 ATP5MG ATP synthase membrane subunit g gene DOID:0060017 CD3epsilon deficiency ISO RGD:1352647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12265488 ATP5MG ATP synthase membrane subunit g gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1352647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12265488 ATP5MG ATP synthase membrane subunit g gene DOID:0080690 RASopathy ISO RGD:1352647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12265488 ATP5MG ATP synthase membrane subunit g gene DOID:0081330 glycogen storage disease Ib ISO RGD:1352647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12265488 ATP5MG ATP synthase membrane subunit g gene DOID:0110651 long QT syndrome 10 ISO RGD:1352647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12265488 ATP5MG ATP synthase membrane subunit g gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1352647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12265488 ATP5MG ATP synthase membrane subunit g gene DOID:0111971 immunodeficiency 18 ISO RGD:1352647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12265488 ATP5MG ATP synthase membrane subunit g gene DOID:0111972 immunodeficiency 19 ISO RGD:1352647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12265488 ATP5MG ATP synthase membrane subunit g gene DOID:0111973 immunodeficiency 17 ISO RGD:1352647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12265488 ATP5MG ATP synthase membrane subunit g gene DOID:1059 intellectual disability ISO RGD:1352647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12265488 ATP5MG ATP synthase membrane subunit g gene DOID:10652 Alzheimer's disease ISO RGD:1352647 D RGD:9068941 20200609 RGD PMID:28474567|REF_RGD_ID:13792588 12265488 ATP5MG ATP synthase membrane subunit g gene DOID:630 genetic disease ISO RGD:1352647 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265488 ATP5MG ATP synthase membrane subunit g gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1352647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12265488 ATP5MG ATP synthase membrane subunit g gene DOID:9007661 Dwarfism ISO RGD:1352647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12265495 ELOVL1 ELOVL fatty acid elongase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1349015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12265495 ELOVL1 ELOVL fatty acid elongase 1 gene DOID:630 genetic disease ISO RGD:1349015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265495 ELOVL1 ELOVL fatty acid elongase 1 gene DOID:9006712 ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES ISO RGD:1349015 D RGD:7240710 20190918 OMIM 12265495 ELOVL1 ELOVL fatty acid elongase 1 gene DOID:9006712 ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES ISO RGD:1349015 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features PMID:28492532|PMID:29496980|PMID:30487246|PMID:35379526 12265540 KBTBD8 kelch repeat and BTB domain containing 8 gene DOID:630 genetic disease ISO RGD:1606999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265567 RPL13A ribosomal protein L13a gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1351312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12265567 RPL13A ribosomal protein L13a gene DOID:3910 lung adenocarcinoma ISO RGD:1351312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12265567 RPL13A ribosomal protein L13a gene DOID:630 genetic disease ISO RGD:1351312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265567 RPL13A ribosomal protein L13a gene DOID:9006205 Animal Disease Models ISO RGD:1351312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12265583 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:0050891 adrenal cortical adenoma ISO RGD:735332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aldosterone-producing adrenal cortex adenoma PMID:23416519 12265583 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:735332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 12265583 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:0111558 Charcot-Marie-Tooth disease type 2DD ISO RGD:735332 D RGD:7240710 20190315 OMIM 12265583 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:0111558 Charcot-Marie-Tooth disease type 2DD ISO RGD:735332 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Charcot-marie-tooth disease, axonal, type 2DD PMID:25741868|PMID:28492532|PMID:29499166|PMID:30388404|PMID:31705535|PMID:31707753 12265583 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:10003 sensorineural hearing loss ISO RGD:2167 D RGD:9068941 20200609 RGD protein:decreased expression:cochlea: PMID:23827367|REF_RGD_ID:7349365 12265583 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:10283 prostate cancer ISO RGD:735332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12265583 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:1059 intellectual disability ISO RGD:735332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12265583 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:10763 hypertension ISO RGD:2167 D RGD:9068941 20200609 RGD PMID:8082931|REF_RGD_ID:1579862 12265583 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:10763 hypertension ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23416519 12265583 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:3426 vestibular disease ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21269433 12265583 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:446 primary hyperaldosteronism ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23416519 12265583 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:5844 myocardial infarction ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29702141 12265583 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:630 genetic disease ISO RGD:735332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12265583 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:657 adenoma ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23416519|PMID:23913004 12265583 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9006615 HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2 ISO RGD:735332 D RGD:7240710 20190315 OMIM 12265583 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9006615 HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2 ISO RGD:735332 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypomagnesemia, seizures, and intellectual disability 2 PMID:25741868|PMID:28492532|PMID:30388404 12265583 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:735332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12265583 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12265583 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29702141 12265583 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9008817 Transmissible Gastroenteritis, of Swine ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28438630 12265583 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9279 hyperhomocysteinemia ISO RGD:2167 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex PMID:23467881|REF_RGD_ID:11576285 12265608 PCF11 PCF11 cleavage and polyadenylation factor subunit gene DOID:1059 intellectual disability ISO RGD:1604812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12265608 PCF11 PCF11 cleavage and polyadenylation factor subunit gene DOID:630 genetic disease ISO RGD:1604812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265608 PCF11 PCF11 cleavage and polyadenylation factor subunit gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1604812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia 12265627 LAMP1 lysosomal associated membrane protein 1 gene DOID:0040084 Streptococcus pneumonia ISO RGD:10855 D RGD:9068941 20201117 RGD protein:increased expression:lung, natural killer cell (mouse) PMID:21887255|REF_RGD_ID:40818252 12265627 LAMP1 lysosomal associated membrane protein 1 gene DOID:2222 factor X deficiency ISO RGD:737544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12265627 LAMP1 lysosomal associated membrane protein 1 gene DOID:630 genetic disease ISO RGD:737544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265640 YIPF5 Yip1 domain family member 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602093 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12265640 YIPF5 Yip1 domain family member 5 gene DOID:630 genetic disease ISO RGD:1602093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265640 YIPF5 Yip1 domain family member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12265640 YIPF5 Yip1 domain family member 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602093 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12265640 YIPF5 Yip1 domain family member 5 gene DOID:9007409 Microcephaly, Epilepsy, and Diabetes Syndrome 2 ISO RGD:1602093 D RGD:7240710 20210505 OMIM 12265640 YIPF5 Yip1 domain family member 5 gene DOID:9007409 Microcephaly, Epilepsy, and Diabetes Syndrome 2 ISO RGD:1602093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 2 PMID:25741868|PMID:33164986 12265653 ELOA elongin A gene DOID:630 genetic disease ISO RGD:736026 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265653 ELOA elongin A gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:736026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12265668 FASTKD1 FAST kinase domains 1 gene DOID:630 genetic disease ISO RGD:1606223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265668 FASTKD1 FAST kinase domains 1 gene DOID:9003605 Glaucoma 1, Open Angle, B ISO RGD:1606223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, B 12265702 SMOC1 SPARC related modular calcium binding 1 gene DOID:0060861 microphthalmia with limb anomalies ISO RGD:1348217 D RGD:7240710 20180130 OMIM 12265702 SMOC1 SPARC related modular calcium binding 1 gene DOID:0060861 microphthalmia with limb anomalies ISO RGD:1348217 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microphthalmia with limb anomalies PMID:19208380|PMID:21194678|PMID:21194680|PMID:23646827|PMID:25741868|PMID:28085523|PMID:28492532 12265702 SMOC1 SPARC related modular calcium binding 1 gene DOID:630 genetic disease ISO RGD:1348217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265702 SMOC1 SPARC related modular calcium binding 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12265724 ZNF212 zinc finger protein 212 gene DOID:630 genetic disease ISO RGD:1317263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265739 UBE3C ubiquitin protein ligase E3C gene DOID:0110875 holoprosencephaly 3 ISO RGD:1348358 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:22354285|PMID:22683912|PMID:23370340|PMID:24095820|PMID:28284480|PMID:28492532|PMID:28588853|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32677110 12265739 UBE3C ubiquitin protein ligase E3C gene DOID:12849 autistic disorder ISO RGD:1348358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12265739 UBE3C ubiquitin protein ligase E3C gene DOID:630 genetic disease ISO RGD:1348358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265739 UBE3C ubiquitin protein ligase E3C gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1348358 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12265739 UBE3C ubiquitin protein ligase E3C gene DOID:9006574 NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES ISO RGD:1348358 D RGD:7240710 20230505 OMIM 12265739 UBE3C ubiquitin protein ligase E3C gene DOID:9006574 NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES ISO RGD:1348358 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities PMID:25741868|PMID:36401616 12265772 NUP160 nucleoporin 160 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1322303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12265772 NUP160 nucleoporin 160 gene DOID:0080394 nephrotic syndrome type 19 ISO RGD:1322303 D RGD:7240710 20190315 OMIM 12265772 NUP160 nucleoporin 160 gene DOID:0080394 nephrotic syndrome type 19 ISO RGD:1322303 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 19 PMID:25741868|PMID:28492532|PMID:30179222 12265772 NUP160 nucleoporin 160 gene DOID:1059 intellectual disability ISO RGD:1322303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12265772 NUP160 nucleoporin 160 gene DOID:630 genetic disease ISO RGD:1322303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12265809 CCDC68 coiled-coil domain containing 68 gene DOID:1059 intellectual disability ISO RGD:1601959 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12265809 CCDC68 coiled-coil domain containing 68 gene DOID:630 genetic disease ISO RGD:1601959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265809 CCDC68 coiled-coil domain containing 68 gene DOID:9007479 Habitual Abortions ISO RGD:1601959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion 12265835 FZD4 frizzled class receptor 4 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:736680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial exudative vitreoretinopathy PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 12265835 FZD4 frizzled class receptor 4 gene DOID:0060844 Norrie disease ISO RGD:736680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrophia bulborum hereditaria PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 12265835 FZD4 frizzled class receptor 4 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:736680 D RGD:7240710 20180130 OMIM 12265835 FZD4 frizzled class receptor 4 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:736680 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant PMID:12172548|PMID:14507768|PMID:15035989|PMID:15370539|PMID:15488808|PMID:15733276|PMID:15981244|PMID:17955262|PMID:19324841|PMID:20340138|PMID:20938005|PMID:21097938|PMID:21177847|PMID:21179236|PMID:21681106|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26227961|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 12265835 FZD4 frizzled class receptor 4 gene DOID:1059 intellectual disability ISO RGD:736680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12265835 FZD4 frizzled class receptor 4 gene DOID:11193 syndactyly ISO RGD:736680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17103440 12265835 FZD4 frizzled class receptor 4 gene DOID:13025 retinopathy of prematurity ISO RGD:736680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinopathy of prematurity PMID:15733276|PMID:25741868|PMID:28492532 12265835 FZD4 frizzled class receptor 4 gene DOID:5679 retinal disease ISO RGD:736680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17103440 12265835 FZD4 frizzled class receptor 4 gene DOID:630 genetic disease ISO RGD:736680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12265835 FZD4 frizzled class receptor 4 gene DOID:674 cleft palate ISO RGD:736680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17103440 12265835 FZD4 frizzled class receptor 4 gene DOID:7765 Coats disease ISO RGD:736680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative retinopathy PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 12265835 FZD4 frizzled class receptor 4 gene DOID:8501 fundus dystrophy ISO RGD:736680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 12265835 FZD4 frizzled class receptor 4 gene DOID:8634 prostate carcinoma in situ ISO RGD:736680 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18068632|REF_RGD_ID:2298702 12265835 FZD4 frizzled class receptor 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736680 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18068632|REF_RGD_ID:2298702 12265835 FZD4 frizzled class receptor 4 gene DOID:9005367 Arachnodactyly ISO RGD:736680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17103440 12265835 FZD4 frizzled class receptor 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:736680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17103440 12265841 NUFIP1 nuclear FMR1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1347229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265855 KLHL6 kelch like family member 6 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1316764 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12265855 KLHL6 kelch like family member 6 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1316764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12265855 KLHL6 kelch like family member 6 gene DOID:0111546 Currarino syndrome ISO RGD:1316764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12265855 KLHL6 kelch like family member 6 gene DOID:2377 multiple sclerosis ISO RGD:1316764 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 12265855 KLHL6 kelch like family member 6 gene DOID:630 genetic disease ISO RGD:1316764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265855 KLHL6 kelch like family member 6 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:1316764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 12265866 BCL6 BCL6 transcription repressor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1319642 D RGD:9068941 20200609 RGD diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region PMID:11821949|REF_RGD_ID:1600111 12265866 BCL6 BCL6 transcription repressor gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:1319642 D RGD:9068941 20200609 RGD PMID:15701085|REF_RGD_ID:11530023 12265866 BCL6 BCL6 transcription repressor gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1319642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25543051 12265866 BCL6 BCL6 transcription repressor gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1319642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15375218 12265866 BCL6 BCL6 transcription repressor gene DOID:5419 schizophrenia ISO RGD:1319642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12265866 BCL6 BCL6 transcription repressor gene DOID:630 genetic disease ISO RGD:1319642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265866 BCL6 BCL6 transcription repressor gene DOID:707 B-cell lymphoma ISO RGD:1319642 D RGD:9068941 20200609 RGD diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region PMID:11821949|REF_RGD_ID:1600111 12265901 RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:0080600 COVID-19 ISO RGD:1318125 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12265901 RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1318125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12265901 RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1318125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12265901 RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:10283 prostate cancer ISO RGD:1318125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12265901 RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1318125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12265901 RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:630 genetic disease ISO RGD:1318125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265901 RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1318125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12265901 RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12265901 RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1318125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12265921 CTNNA3 catenin alpha 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1320341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 12265921 CTNNA3 catenin alpha 3 gene DOID:0110084 arrhythmogenic right ventricular dysplasia 13 ISO RGD:1320341 D RGD:7240710 20180130 OMIM 12265921 CTNNA3 catenin alpha 3 gene DOID:0110084 arrhythmogenic right ventricular dysplasia 13 ISO RGD:1320341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 13 PMID:16199547|PMID:17576681|PMID:21254927|PMID:22421363|PMID:23136403|PMID:23375656|PMID:25050139|PMID:25640679|PMID:25741868|PMID:27231342|PMID:27535533|PMID:28202948|PMID:28416588|PMID:28492532|PMID:29544605|PMID:30847666|PMID:32880476|PMID:33497884|PMID:33789662|PMID:9536098 12265921 CTNNA3 catenin alpha 3 gene DOID:11054 urinary bladder cancer ISO RGD:1320341 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 12265921 CTNNA3 catenin alpha 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1320341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 12265921 CTNNA3 catenin alpha 3 gene DOID:2841 asthma ISO RGD:1320341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19187332 12265921 CTNNA3 catenin alpha 3 gene DOID:2843 long QT syndrome ISO RGD:1320341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28416588|PMID:28492532 12265921 CTNNA3 catenin alpha 3 gene DOID:303 substance-related disorder ISO RGD:1320341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12265921 CTNNA3 catenin alpha 3 gene DOID:630 genetic disease ISO RGD:1320341 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12265921 CTNNA3 catenin alpha 3 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1320341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:28492532 12265921 CTNNA3 catenin alpha 3 gene DOID:9000727 Syncope ISO RGD:1320341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syncope 12265949 DNA2 DNA replication helicase/nuclease 2 gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:1315606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary dwarfism 1 PMID:24389050|PMID:25558065 12265949 DNA2 DNA replication helicase/nuclease 2 gene DOID:0070009 Seckel syndrome 8 ISO RGD:1315606 D RGD:7240710 20180130 OMIM 12265949 DNA2 DNA replication helicase/nuclease 2 gene DOID:0070009 Seckel syndrome 8 ISO RGD:1315606 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seckel syndrome 8 PMID:24389050|PMID:25558065|PMID:25741868|PMID:28492532 12265949 DNA2 DNA replication helicase/nuclease 2 gene DOID:0080100 congenital myopathy ISO RGD:1315606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myopathy PMID:25741868 12265949 DNA2 DNA replication helicase/nuclease 2 gene DOID:0111519 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 ISO RGD:1315606 D RGD:7240710 20180130 OMIM 12265949 DNA2 DNA replication helicase/nuclease 2 gene DOID:0111519 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 ISO RGD:1315606 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA deletion syndrome with progressive myopathy PMID:23352259|PMID:25741868|PMID:28492532 12265949 DNA2 DNA replication helicase/nuclease 2 gene DOID:10907 microcephaly ISO RGD:1315606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12265949 DNA2 DNA replication helicase/nuclease 2 gene DOID:2732 Rothmund-Thomson syndrome ISO RGD:1315606 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rothmund-Thomson syndrome PMID:25741868 12265949 DNA2 DNA replication helicase/nuclease 2 gene DOID:2843 long QT syndrome ISO RGD:1315606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12265949 DNA2 DNA replication helicase/nuclease 2 gene DOID:630 genetic disease ISO RGD:1315606 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:25741868|PMID:28492532 12265949 DNA2 DNA replication helicase/nuclease 2 gene DOID:699 mitochondrial myopathy ISO RGD:1315606 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:23352259|REF_RGD_ID:10401079 12265973 ERRFI1 ERBB receptor feedback inhibitor 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12265973 ERRFI1 ERBB receptor feedback inhibitor 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1604617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12265973 ERRFI1 ERBB receptor feedback inhibitor 1 gene DOID:1380 endometrial cancer ISO RGD:1332254 D RGD:9068941 20220825 MouseDO OMIM:608089 12265973 ERRFI1 ERBB receptor feedback inhibitor 1 gene DOID:289 endometriosis ISO RGD:1604617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12265973 ERRFI1 ERBB receptor feedback inhibitor 1 gene DOID:630 genetic disease ISO RGD:1604617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265973 ERRFI1 ERBB receptor feedback inhibitor 1 gene DOID:8398 osteoarthritis ISO RGD:1332254 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 12265973 ERRFI1 ERBB receptor feedback inhibitor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1307599 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA:increased expression:kidney: PMID:10749885|REF_RGD_ID:9685546 12265973 ERRFI1 ERBB receptor feedback inhibitor 1 gene DOID:9003936 Cardiomegaly ISO RGD:1332254 D RGD:9068941 20200609 RGD protein:increased expression:heart: PMID:19204184|REF_RGD_ID:9685562 12265973 ERRFI1 ERBB receptor feedback inhibitor 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1307599 D RGD:9068941 20200609 RGD PMID:19204184|REF_RGD_ID:9685562 12265973 ERRFI1 ERBB receptor feedback inhibitor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12265973 ERRFI1 ERBB receptor feedback inhibitor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1604617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28688920 12265981 GAL3ST4 galactose-3-O-sulfotransferase 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12265981 GAL3ST4 galactose-3-O-sulfotransferase 4 gene DOID:630 genetic disease ISO RGD:1351990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265989 OR3A2 olfactory receptor family 3 subfamily A member 2 gene DOID:630 genetic disease ISO RGD:1350655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12265994 RNF139 ring finger protein 139 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1315417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12265994 RNF139 ring finger protein 139 gene DOID:4450 renal cell carcinoma ISO RGD:1315417 D RGD:7240710 20180130 OMIM 12265994 RNF139 ring finger protein 139 gene DOID:630 genetic disease ISO RGD:1315417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266000 HGH1 HGH1 homolog gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1602718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12266000 HGH1 HGH1 homolog gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1602718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12266000 HGH1 HGH1 homolog gene DOID:4621 holoprosencephaly ISO RGD:1602718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12266000 HGH1 HGH1 homolog gene DOID:630 genetic disease ISO RGD:1602718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266010 RPH3A rabphilin 3A gene DOID:0080600 COVID-19 ISO RGD:1347244 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12266010 RPH3A rabphilin 3A gene DOID:630 genetic disease ISO RGD:1347244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266043 LOC611075 zinc finger protein 709 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1347487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12266043 LOC611075 zinc finger protein 709 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1347487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12266043 LOC611075 zinc finger protein 709 gene DOID:0111254 glutaric acidemia I ISO RGD:1347487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12266043 LOC611075 zinc finger protein 709 gene DOID:3413 alpha-mannosidosis ISO RGD:1347487 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12266043 LOC611075 zinc finger protein 709 gene DOID:630 genetic disease ISO RGD:1347487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266051 LSP1 lymphocyte specific protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12266051 LSP1 lymphocyte specific protein 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1314573 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12266051 LSP1 lymphocyte specific protein 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1314573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12266051 LSP1 lymphocyte specific protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12266051 LSP1 lymphocyte specific protein 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1314573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12266051 LSP1 lymphocyte specific protein 1 gene DOID:182 calcinosis ISO RGD:1314573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12266051 LSP1 lymphocyte specific protein 1 gene DOID:4079 heart valve disease ISO RGD:1314573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12266051 LSP1 lymphocyte specific protein 1 gene DOID:630 genetic disease ISO RGD:1314573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266051 LSP1 lymphocyte specific protein 1 gene DOID:8577 ulcerative colitis ISO RGD:1314573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 12266051 LSP1 lymphocyte specific protein 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1314573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12266051 LSP1 lymphocyte specific protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1314573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17529967|PMID:20453838 12266080 RAB34 RAB34, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1312861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266106 HSBP1L1 heat shock factor binding protein 1 like 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:2902676 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12266106 HSBP1L1 heat shock factor binding protein 1 like 1 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:2902676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 12266106 HSBP1L1 heat shock factor binding protein 1 like 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:2902676 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12266106 HSBP1L1 heat shock factor binding protein 1 like 1 gene DOID:8445 intestinal volvulus ISO RGD:2902676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12266106 HSBP1L1 heat shock factor binding protein 1 like 1 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:2902676 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 12266106 HSBP1L1 heat shock factor binding protein 1 like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2902676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12266106 HSBP1L1 heat shock factor binding protein 1 like 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:2902676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12266117 C17H1orf54 chromosome 17 C1orf54 homolog gene DOID:0111940 immunodeficiency 42 ISO RGD:1606237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12266117 C17H1orf54 chromosome 17 C1orf54 homolog gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12266117 C17H1orf54 chromosome 17 C1orf54 homolog gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12266117 C17H1orf54 chromosome 17 C1orf54 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1606237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12266117 C17H1orf54 chromosome 17 C1orf54 homolog gene DOID:5812 MHC class II deficiency ISO RGD:1606237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12266117 C17H1orf54 chromosome 17 C1orf54 homolog gene DOID:630 genetic disease ISO RGD:1606237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266117 C17H1orf54 chromosome 17 C1orf54 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12266145 MIR99A-1 microRNA mir-99a-1 gene DOID:10652 Alzheimer's disease ISO RGD:1349808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 12266145 MIR99A-1 microRNA mir-99a-1 gene DOID:11054 urinary bladder cancer ISO RGD:1349808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 12266145 MIR99A-1 microRNA mir-99a-1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1349808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12266145 MIR99A-1 microRNA mir-99a-1 gene DOID:13580 cholestasis ISO RGD:1349808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12266145 MIR99A-1 microRNA mir-99a-1 gene DOID:14250 Down syndrome ISO RGD:1349808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29403643 12266145 MIR99A-1 microRNA mir-99a-1 gene DOID:2043 hepatitis B ISO RGD:1349808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12266145 MIR99A-1 microRNA mir-99a-1 gene DOID:2671 transitional cell carcinoma ISO RGD:1349808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 12266145 MIR99A-1 microRNA mir-99a-1 gene DOID:3021 acute kidney failure ISO RGD:1349808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 12266145 MIR99A-1 microRNA mir-99a-1 gene DOID:9000918 Disease Progression ISO RGD:1349808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 12266145 MIR99A-1 microRNA mir-99a-1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 12266145 MIR99A-1 microRNA mir-99a-1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12266145 MIR99A-1 microRNA mir-99a-1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12266234 FBXO3 F-box protein 3 gene DOID:1059 intellectual disability ISO RGD:1314921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12266234 FBXO3 F-box protein 3 gene DOID:630 genetic disease ISO RGD:1314921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266249 ACSL5 acyl-CoA synthetase long chain family member 5 gene DOID:630 genetic disease ISO RGD:1604361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266249 ACSL5 acyl-CoA synthetase long chain family member 5 gene DOID:9002457 Experimental Arthritis ISO RGD:1604361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988084 12266249 ACSL5 acyl-CoA synthetase long chain family member 5 gene DOID:9005374 Diarrhea 13 ISO RGD:1604361 D RGD:7240710 20230505 OMIM 12266281 PACRGL parkin coregulated like gene DOID:630 genetic disease ISO RGD:1605875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266309 ZNF394 zinc finger protein 394 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1354133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12266309 ZNF394 zinc finger protein 394 gene DOID:630 genetic disease ISO RGD:1354133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266325 CCP110 centriolar coiled-coil protein 110 gene DOID:630 genetic disease ISO RGD:1605415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266351 CDC42EP1 CDC42 effector protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1322427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12266351 CDC42EP1 CDC42 effector protein 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1322427 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12266351 CDC42EP1 CDC42 effector protein 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1322427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12266351 CDC42EP1 CDC42 effector protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1322427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12266351 CDC42EP1 CDC42 effector protein 1 gene DOID:630 genetic disease ISO RGD:1322427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266358 KIAA1958 KIAA1958 gene DOID:0080600 COVID-19 ISO RGD:1322143 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12266358 KIAA1958 KIAA1958 gene DOID:630 genetic disease ISO RGD:1322143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266368 RAB11FIP1 RAB11 family interacting protein 1 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1347457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 12266368 RAB11FIP1 RAB11 family interacting protein 1 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1347457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 12266368 RAB11FIP1 RAB11 family interacting protein 1 gene DOID:607 paraplegia ISO RGD:1347457 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12266368 RAB11FIP1 RAB11 family interacting protein 1 gene DOID:630 genetic disease ISO RGD:1347457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266391 EPB41L2 erythrocyte membrane protein band 4.1 like 2 gene DOID:630 genetic disease ISO RGD:1348118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266391 EPB41L2 erythrocyte membrane protein band 4.1 like 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12266475 ATP13A5 ATPase 13A5 gene DOID:5419 schizophrenia ISO RGD:1343803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12266475 ATP13A5 ATPase 13A5 gene DOID:630 genetic disease ISO RGD:1343803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266509 SMIM19 small integral membrane protein 19 gene DOID:0090039 torsion dystonia 6 ISO RGD:1602660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 12266509 SMIM19 small integral membrane protein 19 gene DOID:0111959 immunodeficiency 15B ISO RGD:1602660 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 12266509 SMIM19 small integral membrane protein 19 gene DOID:630 genetic disease ISO RGD:1602660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266509 SMIM19 small integral membrane protein 19 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:1602660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 12266509 SMIM19 small integral membrane protein 19 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1602660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 12266532 PIK3AP1 phosphoinositide-3-kinase adaptor protein 1 gene DOID:0050562 West syndrome ISO RGD:1317115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile spasms PMID:17576681|PMID:25262651|PMID:25741868|PMID:28492532|PMID:9536098 12266532 PIK3AP1 phosphoinositide-3-kinase adaptor protein 1 gene DOID:630 genetic disease ISO RGD:1317115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12266556 TRABD2B TraB domain containing 2B gene DOID:630 genetic disease ISO RGD:6770286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266566 MFNG MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1349900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12266566 MFNG MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1349900 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12266566 MFNG MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1349900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12266566 MFNG MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12266566 MFNG MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:1349900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266578 SRRM4 serine/arginine repetitive matrix 4 gene DOID:3426 vestibular disease ISO RGD:1603376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17613114 12266578 SRRM4 serine/arginine repetitive matrix 4 gene DOID:630 genetic disease ISO RGD:1603376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266578 SRRM4 serine/arginine repetitive matrix 4 gene DOID:9002500 Hearing Disorders ISO RGD:1603376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17613114 12266595 SMIM24 small integral membrane protein 24 gene DOID:630 genetic disease ISO RGD:3380006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266595 SMIM24 small integral membrane protein 24 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:3380006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0050438 Frasier syndrome ISO RGD:733930 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Frasier syndrome PMID:25741868|PMID:28492532 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:20437590|PMID:22131395|PMID:24747641|PMID:25678871|PMID:25741868|PMID:26073591|PMID:26467025|PMID:27541642|PMID:28166811|PMID:28488083|PMID:28492532|PMID:30351409|PMID:30986657 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733930 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:17576681|PMID:20437590|PMID:22131395|PMID:24747641|PMID:25640679|PMID:25678871|PMID:25741868|PMID:26073591|PMID:26467025|PMID:27541642|PMID:28488083|PMID:28492532|PMID:29056246|PMID:30351409|PMID:34055682|PMID:9536098 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0080429 developmental and epileptic encephalopathy 24 ISO RGD:733930 D RGD:7240710 20180130 OMIM 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0080429 developmental and epileptic encephalopathy 24 ISO RGD:733930 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 24 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 24 PMID:24747641|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30351409|PMID:33822003 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0080454 developmental and epileptic encephalopathy 42 ISO RGD:733930 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42 PMID:25741868 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:733930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747641 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:620688 D RGD:9068941 20200609 RGD protein:decreased expression:neocortex: PMID:20618401|REF_RGD_ID:9686432 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0111296 generalized epilepsy with febrile seizures plus 10 ISO RGD:733930 D RGD:7240710 20190710 OMIM 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0111296 generalized epilepsy with febrile seizures plus 10 ISO RGD:733930 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 10 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 10 PMID:25741868|PMID:26467025|PMID:28492532|PMID:29936235|PMID:30351409 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733930 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17576681|PMID:20437590|PMID:22131395|PMID:24747641|PMID:25640679|PMID:25678871|PMID:25741868|PMID:26073591|PMID:26467025|PMID:27541642|PMID:28488083|PMID:28492532|PMID:29056246|PMID:30351409|PMID:34055682|PMID:9536098 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:1059 intellectual disability ISO RGD:733930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:11832 visual epilepsy ISO RGD:620688 D RGD:9068941 20220728 RGD PMID:17988239|REF_RGD_ID:9686135 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:13884 sick sinus syndrome ISO RGD:733931 D RGD:9068941 20220825 MouseDO OMIM:163800 | OMIM:608567 | OMIM:614090 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:1824 status epilepticus ISO RGD:620688 D RGD:9068941 20200609 RGD PMID:21976514|REF_RGD_ID:9686365 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:1825 childhood absence epilepsy ISO RGD:620688 D RGD:9068941 20200609 RGD PMID:15182313|REF_RGD_ID:9686420 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:1826 epilepsy ISO RGD:733930 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:2030 anxiety disorder ISO RGD:620688 D RGD:9068941 20200609 RGD PMID:22884333|REF_RGD_ID:9686419 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:3324 mood disorder ISO RGD:620688 D RGD:9068941 20200609 RGD PMID:22884333|REF_RGD_ID:9686419 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:620688 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus: PMID:12890777|REF_RGD_ID:9686145 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:620688 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus: PMID:21905079|REF_RGD_ID:9686146 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:733930 D RGD:9068941 20200609 RGD PMID:12890777|REF_RGD_ID:9686145 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:630 genetic disease ISO RGD:733930 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:20437590|PMID:22131395|PMID:24747641|PMID:25678871|PMID:25741868|PMID:26073591|PMID:26467025|PMID:27541642|PMID:27864847|PMID:28488083|PMID:28492532 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:620688 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus: PMID:22378889|REF_RGD_ID:9686397 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9000495 Tremor ISO RGD:620688 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.1061C>T, p.A354V(rat) PMID:25970616|REF_RGD_ID:11060746 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9000930 Dental Pulp Exposure ISO RGD:620688 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:17645513|REF_RGD_ID:9686147 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9000998 Brain Injuries ISO RGD:620688 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus: PMID:11726545|REF_RGD_ID:9686434 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:733930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:30351409 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620688 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus,cortex: PMID:19892002|REF_RGD_ID:9686395 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9004866 Ataxia ISO RGD:733930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19747469 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620688 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:19815055|REF_RGD_ID:9693680 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9006205 Animal Disease Models ISO RGD:733930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19747469 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9007956 Febrile Seizures ISO RGD:620688 D RGD:9068941 20200609 RGD PMID:15837575|REF_RGD_ID:9686385 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:620688 D RGD:9068941 20200609 RGD PMID:24838625|REF_RGD_ID:9686415 12266603 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9471 meningitis ISO RGD:620688 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:19409968|REF_RGD_ID:2316615 12266616 CEND1 cell cycle exit and neuronal differentiation 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12266616 CEND1 cell cycle exit and neuronal differentiation 1 gene DOID:0050729 neutral lipid storage disease ISO RGD:1602711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 12266616 CEND1 cell cycle exit and neuronal differentiation 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1602711 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12266616 CEND1 cell cycle exit and neuronal differentiation 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1602711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12266616 CEND1 cell cycle exit and neuronal differentiation 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12266616 CEND1 cell cycle exit and neuronal differentiation 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12266616 CEND1 cell cycle exit and neuronal differentiation 1 gene DOID:630 genetic disease ISO RGD:1602711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266616 CEND1 cell cycle exit and neuronal differentiation 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1602711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12266621 LOC100855866 keratin-associated protein 12-1-like gene DOID:630 genetic disease ISO RGD:1351130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266626 NDUFA4 NDUFA4 mitochondrial complex associated gene DOID:630 genetic disease ISO RGD:1352480 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266626 NDUFA4 NDUFA4 mitochondrial complex associated gene DOID:9004227 Mitochondrial Complex IV Deficiency, Nuclear Type 21 ISO RGD:1352480 D RGD:7240710 20201111 OMIM 12266626 NDUFA4 NDUFA4 mitochondrial complex associated gene DOID:9004227 Mitochondrial Complex IV Deficiency, Nuclear Type 21 ISO RGD:1352480 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21 PMID:25741868 12266645 C8H14orf132 chromosome 8 C14orf132 homolog gene DOID:2224 essential thrombocythemia ISO RGD:1350098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 12266645 C8H14orf132 chromosome 8 C14orf132 homolog gene DOID:4971 myelofibrosis ISO RGD:1350098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis 12266645 C8H14orf132 chromosome 8 C14orf132 homolog gene DOID:9119 acute myeloid leukemia ISO RGD:1350098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 12266651 LAMC2 laminin subunit gamma 2 gene DOID:0060737 junctional epidermolysis bullosa Herlitz type ISO RGD:1315384 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz PMID:11231327|PMID:11564184|PMID:11907499|PMID:15373767|PMID:16199547|PMID:16473856|PMID:17916201|PMID:20301304|PMID:25741868|PMID:27696112|PMID:28492532|PMID:31395954|PMID:7849725|PMID:8012114|PMID:8012393|PMID:8012394|PMID:8824879|PMID:8983017|PMID:9085255 12266651 LAMC2 laminin subunit gamma 2 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:1315384 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:11564184|PMID:25741868|PMID:27375110|PMID:28492532 12266651 LAMC2 laminin subunit gamma 2 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1315384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12266651 LAMC2 laminin subunit gamma 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1315384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12266651 LAMC2 laminin subunit gamma 2 gene DOID:2187 amelogenesis imperfecta ISO RGD:1315384 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 PMID:25741868|PMID:28492532 12266651 LAMC2 laminin subunit gamma 2 gene DOID:3209 junctional epidermolysis bullosa ISO RGD:1315384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa PMID:11231327|PMID:11810295|PMID:11907499|PMID:15370542|PMID:15373767|PMID:15538630|PMID:16473856|PMID:17916201|PMID:21198797|PMID:21801158|PMID:25741868|PMID:26739954|PMID:28492532|PMID:28830826|PMID:31395954|PMID:31980526|PMID:9856849 12266651 LAMC2 laminin subunit gamma 2 gene DOID:3209 junctional epidermolysis bullosa susceptibility ISO RGD:1315384 D RGD:9068941 20200609 RGD DNA:splice-site mutation, deletion-insertion PMID:8012393|REF_RGD_ID:1600210 12266651 LAMC2 laminin subunit gamma 2 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:1315384 D RGD:9068941 20200609 RGD PMID:23124251|REF_RGD_ID:13793371 12266651 LAMC2 laminin subunit gamma 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1315384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 12266651 LAMC2 laminin subunit gamma 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1315384 D RGD:9068941 20200609 RGD mRNA:increased expression:lung: PMID:10964684|REF_RGD_ID:13793368 12266651 LAMC2 laminin subunit gamma 2 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1315384 D RGD:9068941 20200609 RGD PMID:26180921|REF_RGD_ID:13793367 12266651 LAMC2 laminin subunit gamma 2 gene DOID:5082 liver cirrhosis ISO RGD:1315384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 12266651 LAMC2 laminin subunit gamma 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1315384 D RGD:9068941 20200609 RGD DNA:hyper-methylation:promoter: PMID:12855645|REF_RGD_ID:13793369 12266651 LAMC2 laminin subunit gamma 2 gene DOID:630 genetic disease ISO RGD:1315384 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12266651 LAMC2 laminin subunit gamma 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1315384 D RGD:9068941 20200609 RGD associated with lung squamous cell carcinoma; PMID:23124251|REF_RGD_ID:13793371 12266651 LAMC2 laminin subunit gamma 2 gene DOID:9000918 Disease Progression ISO RGD:1315384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 12266651 LAMC2 laminin subunit gamma 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315384 D RGD:9068941 20200609 RGD associated with lung adenocarcinoma; PMID:25591736|REF_RGD_ID:11075980 12266651 LAMC2 laminin subunit gamma 2 gene DOID:9001267 Junctional Epidermolysis Bullosa 3A, Intermediate ISO RGD:1315384 D RGD:7240710 20220608 OMIM 12266651 LAMC2 laminin subunit gamma 2 gene DOID:9001267 Junctional Epidermolysis Bullosa 3A, Intermediate ISO RGD:1315384 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3A, intermediate PMID:11564184|PMID:11810295|PMID:11907499|PMID:15538630|PMID:16199547|PMID:16473856|PMID:28492532|PMID:28830826 12266651 LAMC2 laminin subunit gamma 2 gene DOID:9001600 Wounds and Injuries ISO RGD:1315384 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15541073 12266651 LAMC2 laminin subunit gamma 2 gene DOID:9005152 Junctional Epidermolysis Bullosa 3B, Severe ISO RGD:1315384 D RGD:7240710 20220608 OMIM 12266651 LAMC2 laminin subunit gamma 2 gene DOID:9005152 Junctional Epidermolysis Bullosa 3B, Severe ISO RGD:1315384 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3B, severe PMID:10951251|PMID:11810295|PMID:11907499|PMID:15373767|PMID:16473856|PMID:17916201|PMID:20301304|PMID:25741868|PMID:28492532|PMID:7849725|PMID:8012114|PMID:8012393|PMID:8012394|PMID:8824879|PMID:8983017|PMID:9085255 12266651 LAMC2 laminin subunit gamma 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1315384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12266651 LAMC2 laminin subunit gamma 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12266678 AOC1 amine oxidase copper containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732341 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12266678 AOC1 amine oxidase copper containing 1 gene DOID:10763 hypertension ISO RGD:732341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6218830 12266678 AOC1 amine oxidase copper containing 1 gene DOID:2843 long QT syndrome ISO RGD:732341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 12266678 AOC1 amine oxidase copper containing 1 gene DOID:630 genetic disease ISO RGD:732341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12266678 AOC1 amine oxidase copper containing 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732342 D RGD:9068941 20200609 RGD PMID:16895983|REF_RGD_ID:2315591 12266678 AOC1 amine oxidase copper containing 1 gene DOID:9003936 Cardiomegaly ISO RGD:732341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6218830 12266678 AOC1 amine oxidase copper containing 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61296 D RGD:9068941 20200609 RGD PMID:1632778|REF_RGD_ID:2312809 12266690 MAP7 microtubule associated protein 7 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1318886 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12266690 MAP7 microtubule associated protein 7 gene DOID:0111955 immunodeficiency 27A ISO RGD:1318886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 12266690 MAP7 microtubule associated protein 7 gene DOID:630 genetic disease ISO RGD:1318886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266725 LOC477539 SEC14-like protein 2 gene DOID:630 genetic disease ISO RGD:736725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266744 LEO1 LEO1 homolog, Paf1/RNA polymerase II complex component gene DOID:2717 Bloom syndrome ISO RGD:1602075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12266744 LEO1 LEO1 homolog, Paf1/RNA polymerase II complex component gene DOID:607 paraplegia ISO RGD:1602075 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 12266744 LEO1 LEO1 homolog, Paf1/RNA polymerase II complex component gene DOID:630 genetic disease ISO RGD:1602075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266744 LEO1 LEO1 homolog, Paf1/RNA polymerase II complex component gene DOID:9256 colorectal cancer ISO RGD:1602075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12266760 SIN3A SIN3 transcription regulator family member A gene DOID:0060041 autism spectrum disorder ISO RGD:1323140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27399968 12266760 SIN3A SIN3 transcription regulator family member A gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1323140 D RGD:7240710 20190315 OMIM 12266760 SIN3A SIN3 transcription regulator family member A gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1323140 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome | ClinVar Annotator: match by term: SIN3A-related intellectual disability syndrome | ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106|PMID:25741868|PMID:27399968|PMID:28492532|PMID:30267900 12266760 SIN3A SIN3 transcription regulator family member A gene DOID:1059 intellectual disability ISO RGD:1323140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27399968 12266760 SIN3A SIN3 transcription regulator family member A gene DOID:10907 microcephaly ISO RGD:1323140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27399968 12266760 SIN3A SIN3 transcription regulator family member A gene DOID:10908 hydrocephalus ISO RGD:1323140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27399968 12266760 SIN3A SIN3 transcription regulator family member A gene DOID:12849 autistic disorder ISO RGD:1323140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12266760 SIN3A SIN3 transcription regulator family member A gene DOID:12858 Huntington's disease ISO RGD:1323140 D RGD:9068941 20200609 RGD protein:altered localization:cytoplasm PMID:10441327|REF_RGD_ID:5688338 12266760 SIN3A SIN3 transcription regulator family member A gene DOID:1826 epilepsy ISO RGD:1323140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12266760 SIN3A SIN3 transcription regulator family member A gene DOID:224 transient cerebral ischemia ISO RGD:1311598 D RGD:9068941 20200609 RGD PMID:24063527|REF_RGD_ID:9495912 12266760 SIN3A SIN3 transcription regulator family member A gene DOID:2717 Bloom syndrome ISO RGD:1323140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12266760 SIN3A SIN3 transcription regulator family member A gene DOID:5419 schizophrenia ISO RGD:1323140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12266760 SIN3A SIN3 transcription regulator family member A gene DOID:630 genetic disease ISO RGD:1323140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12266760 SIN3A SIN3 transcription regulator family member A gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1323140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27399968 12266760 SIN3A SIN3 transcription regulator family member A gene DOID:9002211 Hyperalgesia ISO RGD:1311598 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental;mRNA:decreased expression:spinal cord, neuron PMID:17553988|REF_RGD_ID:9495916 12266760 SIN3A SIN3 transcription regulator family member A gene DOID:9002231 Fetal Growth Retardation ISO RGD:1311598 D RGD:9068941 20200609 RGD PMID:18464933|REF_RGD_ID:2311214 12266760 SIN3A SIN3 transcription regulator family member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12266760 SIN3A SIN3 transcription regulator family member A gene DOID:9007661 Dwarfism ISO RGD:1323140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27399968 12266760 SIN3A SIN3 transcription regulator family member A gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1323140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27399968 12266760 SIN3A SIN3 transcription regulator family member A gene DOID:9256 colorectal cancer ISO RGD:1323140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12266789 PHAX phosphorylated adaptor for RNA export gene DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy ISO RGD:1346002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy PMID:25741868 12266789 PHAX phosphorylated adaptor for RNA export gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346002 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12266789 PHAX phosphorylated adaptor for RNA export gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1346002 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy 12266789 PHAX phosphorylated adaptor for RNA export gene DOID:10487 Hirschsprung's disease ISO RGD:1346002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 12266789 PHAX phosphorylated adaptor for RNA export gene DOID:630 genetic disease ISO RGD:1346002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266789 PHAX phosphorylated adaptor for RNA export gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12266789 PHAX phosphorylated adaptor for RNA export gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346002 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12266798 CAPS2 calcyphosine 2 gene DOID:630 genetic disease ISO RGD:1320373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266862 SBF1 SET binding factor 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1316075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28005197|PMID:28492532|PMID:28902413 12266862 SBF1 SET binding factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1316075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310|PMID:30763456 12266862 SBF1 SET binding factor 1 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1316075 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12266862 SBF1 SET binding factor 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1316075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12266862 SBF1 SET binding factor 1 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1316075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12266862 SBF1 SET binding factor 1 gene DOID:0110194 Charcot-Marie-Tooth disease type 4B3 ISO RGD:1316075 D RGD:7240710 20180130 OMIM 12266862 SBF1 SET binding factor 1 gene DOID:0110194 Charcot-Marie-Tooth disease type 4B3 ISO RGD:1316075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3 PMID:16199547|PMID:17576681|PMID:21210780|PMID:23749797|PMID:24799518|PMID:25558065|PMID:25741868|PMID:28005197|PMID:28492532|PMID:28902413|PMID:30564305|PMID:31482689|PMID:33726816|PMID:33987933|PMID:34118926|PMID:9536098 12266862 SBF1 SET binding factor 1 gene DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 ISO RGD:1316075 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 PMID:25741868|PMID:28492532 12266862 SBF1 SET binding factor 1 gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1316075 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 12266862 SBF1 SET binding factor 1 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1316075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12266862 SBF1 SET binding factor 1 gene DOID:1059 intellectual disability ISO RGD:1316075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12266862 SBF1 SET binding factor 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1316075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:21210780|PMID:24799518|PMID:25558065 12266862 SBF1 SET binding factor 1 gene DOID:10907 microcephaly ISO RGD:1316075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:23749797|PMID:25741868|PMID:28492532 12266862 SBF1 SET binding factor 1 gene DOID:574 peripheral nervous system disease ISO RGD:1316075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 12266862 SBF1 SET binding factor 1 gene DOID:630 genetic disease ISO RGD:1316075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23749797|PMID:25741868|PMID:28492532 12266862 SBF1 SET binding factor 1 gene DOID:870 neuropathy ISO RGD:1316075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 12266902 REV1 REV1 DNA directed polymerase gene DOID:630 genetic disease ISO RGD:1315491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266941 AANAT aralkylamine N-acetyltransferase gene DOID:0050628 advanced sleep phase syndrome ISO RGD:736736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12736803 12266941 AANAT aralkylamine N-acetyltransferase gene DOID:0050628 advanced sleep phase syndrome ISO RGD:736736 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A129T(human) PMID:12736803|REF_RGD_ID:1300232 12266941 AANAT aralkylamine N-acetyltransferase gene DOID:0111141 delayed sleep phase syndrome ISO RGD:736736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delayed sleep phase syndrome, susceptibility to PMID:12736803 12266941 AANAT aralkylamine N-acetyltransferase gene DOID:630 genetic disease ISO RGD:736736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266941 AANAT aralkylamine N-acetyltransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2006 D RGD:9068941 20200609 RGD PMID:18624957|REF_RGD_ID:2301030 12266941 AANAT aralkylamine N-acetyltransferase gene DOID:9352 type 2 diabetes mellitus ISO RGD:2006 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, decreased activity:pineal gland PMID:16441550|REF_RGD_ID:2301037 12266952 IQCF3 IQ motif containing F3 gene DOID:630 genetic disease ISO RGD:1353537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12266972 CHRND cholinergic receptor nicotinic delta subunit gene DOID:0060476 Perlman syndrome ISO RGD:733359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12266972 CHRND cholinergic receptor nicotinic delta subunit gene DOID:0060835 isolated microphthalmia 6 ISO RGD:733359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 6 PMID:19526372|PMID:21532570|PMID:24033266|PMID:28492532 12266972 CHRND cholinergic receptor nicotinic delta subunit gene DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B ISO RGD:733359 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome PMID:25741868 12266972 CHRND cholinergic receptor nicotinic delta subunit gene DOID:0110664 congenital myasthenic syndrome 3C ISO RGD:733359 D RGD:7240710 20180130 OMIM 12266972 CHRND cholinergic receptor nicotinic delta subunit gene DOID:0110664 congenital myasthenic syndrome 3C ISO RGD:733359 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 3C PMID:11435464|PMID:16199547|PMID:16916845|PMID:23108489|PMID:25264167|PMID:25741868|PMID:28492532|PMID:32070632 12266972 CHRND cholinergic receptor nicotinic delta subunit gene DOID:0110665 congenital myasthenic syndrome 3B ISO RGD:733359 D RGD:7240710 20180214 OMIM 12266972 CHRND cholinergic receptor nicotinic delta subunit gene DOID:0110665 congenital myasthenic syndrome 3B ISO RGD:733359 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 3B PMID:11435464|PMID:12499478|PMID:16199547|PMID:16916845|PMID:18252226|PMID:18398509|PMID:25264167|PMID:25741868|PMID:28492532 12266972 CHRND cholinergic receptor nicotinic delta subunit gene DOID:0110666 congenital myasthenic syndrome 3A ISO RGD:733359 D RGD:7240710 20181024 OMIM 12266972 CHRND cholinergic receptor nicotinic delta subunit gene DOID:0110666 congenital myasthenic syndrome 3A ISO RGD:733359 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 3A PMID:11782989|PMID:25264167|PMID:25741868|PMID:28492532|PMID:32528171 12266972 CHRND cholinergic receptor nicotinic delta subunit gene DOID:0110991 Joubert syndrome 22 ISO RGD:733359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12266972 CHRND cholinergic receptor nicotinic delta subunit gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:733359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12266972 CHRND cholinergic receptor nicotinic delta subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:733359 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31560172|PMID:32528171|PMID:8872460 12266972 CHRND cholinergic receptor nicotinic delta subunit gene DOID:630 genetic disease ISO RGD:733359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12266972 CHRND cholinergic receptor nicotinic delta subunit gene DOID:9005246 Paralysis ISO RGD:733359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18694773 12266972 CHRND cholinergic receptor nicotinic delta subunit gene DOID:9005532 Muscle Weakness ISO RGD:733359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868 12266972 CHRND cholinergic receptor nicotinic delta subunit gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:733359 D RGD:7240710 20180130 OMIM 12266972 CHRND cholinergic receptor nicotinic delta subunit gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:733359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:11435464|PMID:11782989|PMID:16199547|PMID:16916845|PMID:17576681|PMID:18252226|PMID:18414213|PMID:19526372|PMID:21532570|PMID:23108489|PMID:24033266|PMID:25264167|PMID:25741868|PMID:26467025|PMID:26578207|PMID:28024842|PMID:28492532|PMID:29382405|PMID:29390429|PMID:30467950|PMID:31560172|PMID:32070632|PMID:32360402|PMID:32528171|PMID:8872460|PMID:9536098 12266972 CHRND cholinergic receptor nicotinic delta subunit gene DOID:9006988 Congenital Myasthenic Syndrome, Fast-Channel ISO RGD:733359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12266972 CHRND cholinergic receptor nicotinic delta subunit gene DOID:9008585 Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency ISO RGD:733359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12266988 CCNE2 cyclin E2 gene DOID:0080909 castration-resistant prostate carcinoma treatment ISO RGD:1317175 D RGD:9068941 20200609 RGD PMID:27431942|REF_RGD_ID:13504681 12266988 CCNE2 cyclin E2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1317175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12266988 CCNE2 cyclin E2 gene DOID:1790 malignant mesothelioma ISO RGD:1317175 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12266988 CCNE2 cyclin E2 gene DOID:2526 prostate adenocarcinoma ISO RGD:1317176 D RGD:9068941 20200609 RGD PMID:25315431|REF_RGD_ID:13504706 12266988 CCNE2 cyclin E2 gene DOID:289 endometriosis ISO RGD:1317175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12266988 CCNE2 cyclin E2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1317175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29464035 12266988 CCNE2 cyclin E2 gene DOID:630 genetic disease ISO RGD:1317175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267003 BMP2K BMP2 inducible kinase gene DOID:630 genetic disease ISO RGD:1604611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267003 BMP2K BMP2 inducible kinase gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1604611 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12267028 UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1319461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12267028 UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1319461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12267028 UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1 gene DOID:630 genetic disease ISO RGD:1319461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267028 UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12267046 ZFYVE28 zinc finger FYVE-type containing 28 gene DOID:0080600 COVID-19 ISO RGD:1320885 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12267046 ZFYVE28 zinc finger FYVE-type containing 28 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1320885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12267046 ZFYVE28 zinc finger FYVE-type containing 28 gene DOID:1856 cherubism ISO RGD:1320885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12267046 ZFYVE28 zinc finger FYVE-type containing 28 gene DOID:630 genetic disease ISO RGD:1320885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267073 ELAC2 elaC ribonuclease Z 2 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1342597 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar Annotator: match by term: NADH coenzyme Q reductase deficiency PMID:25741868|PMID:27769300|PMID:28492532|PMID:31045291 12267073 ELAC2 elaC ribonuclease Z 2 gene DOID:0111496 combined oxidative phosphorylation deficiency 17 ISO RGD:1342597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 17 PMID:10986046|PMID:11175785|PMID:11507049|PMID:12515253|PMID:12522685|PMID:15863270|PMID:16199547|PMID:17576681|PMID:23849775|PMID:24033266|PMID:25326635|PMID:25741868|PMID:27769300|PMID:28441660|PMID:28454995|PMID:28492532|PMID:30094188|PMID:30217939|PMID:31045291|PMID:32685970|PMID:32870709|PMID:34056100|PMID:34732400|PMID:9536098 12267073 ELAC2 elaC ribonuclease Z 2 gene DOID:0111496 combined oxidative phosphorylation deficiency 17 susceptibility ISO RGD:1342597 D RGD:7240710 20230517 OMIM 12267073 ELAC2 elaC ribonuclease Z 2 gene DOID:10907 microcephaly ISO RGD:1342597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12267073 ELAC2 elaC ribonuclease Z 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1342597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:27769300|PMID:28492532|PMID:31045291 12267073 ELAC2 elaC ribonuclease Z 2 gene DOID:2394 ovarian cancer ISO RGD:1342597 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 12267073 ELAC2 elaC ribonuclease Z 2 gene DOID:630 genetic disease ISO RGD:1342597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11175785|PMID:15863270|PMID:25326635|PMID:25741868|PMID:27769300|PMID:28492532|PMID:31045291|PMID:32685970|PMID:34056100|PMID:34732400 12267073 ELAC2 elaC ribonuclease Z 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1342597 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16114055 12267073 ELAC2 elaC ribonuclease Z 2 gene DOID:9002356 Prostate Cancer, Hereditary, 2 ISO RGD:1342597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 2 PMID:10986046|PMID:11175785|PMID:11254448|PMID:11507049|PMID:12515253|PMID:12522685|PMID:15863270|PMID:24033266|PMID:25326635|PMID:25741868|PMID:28492532|PMID:31045291 12267073 ELAC2 elaC ribonuclease Z 2 gene DOID:9002356 Prostate Cancer, Hereditary, 2 susceptibility ISO RGD:1342597 D RGD:7240710 20230517 OMIM 12267103 SLC35F4 solute carrier family 35 member F4 gene DOID:630 genetic disease ISO RGD:1351439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267126 C1QL4 complement C1q like 4 gene DOID:630 genetic disease ISO RGD:1604955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267132 LY6D lymphocyte antigen 6 family member D gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1314571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 12267132 LY6D lymphocyte antigen 6 family member D gene DOID:4621 holoprosencephaly ISO RGD:1314571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12267132 LY6D lymphocyte antigen 6 family member D gene DOID:630 genetic disease ISO RGD:1314571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267133 SCUBE1 signal peptide, CUB domain and EGF like domain containing 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1319121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12267133 SCUBE1 signal peptide, CUB domain and EGF like domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1319121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12267133 SCUBE1 signal peptide, CUB domain and EGF like domain containing 1 gene DOID:630 genetic disease ISO RGD:1319121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267133 SCUBE1 signal peptide, CUB domain and EGF like domain containing 1 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1319121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 12267165 FOXN3 forkhead box N3 gene DOID:630 genetic disease ISO RGD:1313904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267191 CDH3 cadherin 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1353368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12267191 CDH3 cadherin 3 gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:1353368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:28492532 12267191 CDH3 cadherin 3 gene DOID:0110698 hypotrichosis 1 ISO RGD:1353368 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypotrichosis simplex 12267191 CDH3 cadherin 3 gene DOID:0110711 congenital hypotrichosis with juvenile macular dystrophy ISO RGD:1353368 D RGD:7240710 20180130 OMIM 12267191 CDH3 cadherin 3 gene DOID:0110711 congenital hypotrichosis with juvenile macular dystrophy ISO RGD:1353368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hypotrichosis with juvenile macular dystrophy | ClinVar Annotator: match by term: Hypotrichosis with juvenile macular dystrophy PMID:10420194|PMID:11544476|PMID:12445216|PMID:14708629|PMID:15805154|PMID:16199547|PMID:17342797|PMID:25741868|PMID:27386845|PMID:28041643|PMID:28492532|PMID:29620724|PMID:30710256|PMID:31696509|PMID:32581362|PMID:34301208 12267191 CDH3 cadherin 3 gene DOID:0111649 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome ISO RGD:1353368 D RGD:7240710 20180130 OMIM 12267191 CDH3 cadherin 3 gene DOID:0111649 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome ISO RGD:1353368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EEM syndrome PMID:10420194|PMID:13372143|PMID:14708629|PMID:15805154|PMID:17576681|PMID:25741868|PMID:27386845|PMID:28041643|PMID:28492532|PMID:29620724|PMID:32581362|PMID:9536098 12267191 CDH3 cadherin 3 gene DOID:10283 prostate cancer ISO RGD:1353368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 12267191 CDH3 cadherin 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1353368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:26306921|PMID:28492532|PMID:30718709 12267191 CDH3 cadherin 3 gene DOID:4448 macular degeneration ISO RGD:1353368 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:10420194|PMID:14708629|PMID:15805154|PMID:25741868|PMID:27386845|PMID:28041643|PMID:28492532|PMID:29620724|PMID:32581362 12267191 CDH3 cadherin 3 gene DOID:5119 ovarian cyst ISO RGD:1353368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12267191 CDH3 cadherin 3 gene DOID:630 genetic disease ISO RGD:1353368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12267191 CDH3 cadherin 3 gene DOID:8501 fundus dystrophy ISO RGD:1353368 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868 12267191 CDH3 cadherin 3 gene DOID:8577 ulcerative colitis ISO RGD:1353368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19915572 12267191 CDH3 cadherin 3 gene DOID:9007653 Multiple Abnormalities susceptibility ISO RGD:1353368 D RGD:9068941 20200609 RGD EEM syndrome, OMIM:225280;DNA:deletion, missense mutation:c.829delG, p.N332I PMID:15805154|REF_RGD_ID:1600801 12267214 AGRP agouti related neuropeptide gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:736333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12267214 AGRP agouti related neuropeptide gene DOID:630 genetic disease ISO RGD:736333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267214 AGRP agouti related neuropeptide gene DOID:9002916 Hyperphagia ISO RGD:2068 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:hypothalamus PMID:11179781|REF_RGD_ID:2314004 12267214 AGRP agouti related neuropeptide gene DOID:9005768 Thinness ISO RGD:736333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leanness, inherited PMID:11602360|PMID:12213871|PMID:15054840 12267214 AGRP agouti related neuropeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:2068 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus PMID:18001323|REF_RGD_ID:2311538 12267214 AGRP agouti related neuropeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:736333 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-38C>T (human) PMID:11554767|REF_RGD_ID:2314000 12267214 AGRP agouti related neuropeptide gene DOID:9970 obesity ISO RGD:736333 D RGD:7240710 20180130 OMIM 12267214 AGRP agouti related neuropeptide gene DOID:9970 obesity ISO RGD:736333 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, late-onset PMID:11602360|PMID:12213871|PMID:15054840|PMID:25741868 12267221 AIG1 androgen induced 1 gene DOID:630 genetic disease ISO RGD:1346084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267253 CATSPERE catsper channel auxiliary subunit epsilon gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1604494 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12267253 CATSPERE catsper channel auxiliary subunit epsilon gene DOID:1540 parathyroid carcinoma ISO RGD:1604494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12267253 CATSPERE catsper channel auxiliary subunit epsilon gene DOID:630 genetic disease ISO RGD:1604494 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267253 CATSPERE catsper channel auxiliary subunit epsilon gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1604494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 12267253 CATSPERE catsper channel auxiliary subunit epsilon gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12267283 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:0111674 intellectual developmental disorder with short stature and behavioral abnormalities ISO RGD:1343743 D RGD:7240710 20200115 OMIM 12267283 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:0111674 intellectual developmental disorder with short stature and behavioral abnormalities ISO RGD:1343743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with short stature and behavioral abnormalities PMID:25741868|PMID:28492532|PMID:31607425 12267283 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:1059 intellectual disability ISO RGD:1343743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12267283 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1343743 D RGD:9068941 20220908 RGD mRNA:decreased expression:lung (human) PMID:22491060|REF_RGD_ID:153350086 12267283 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:2543,RGD:621279 D RGD:9068941 20220908 RGD PMID:24902879|REF_RGD_ID:153350085 12267283 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:630 genetic disease ISO RGD:1343743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267283 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1343743 D RGD:9068941 20220901 RGD associated with lung adenocarcinoma; protein:increased expression:lung (human) PMID:21966491|REF_RGD_ID:153344600 12267283 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12267283 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1343743 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12267283 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9006618 Liver Metastasis ISO RGD:1343743 D RGD:9068941 20220901 RGD human cells in mouse model PMID:22662237|REF_RGD_ID:153344589 12267283 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9008582 Developmental Disease ISO RGD:1343743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12267283 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9009121 lung metastasis ISO RGD:1343743 D RGD:9068941 20220901 RGD human cells in mouse model PMID:18084281|REF_RGD_ID:153344604 12267302 OR5P5 olfactory receptor family 5 subfamily P member 5 gene DOID:630 genetic disease ISO RGD:1352607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267306 ZNF300 zinc finger protein 300 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349700 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12267306 ZNF300 zinc finger protein 300 gene DOID:630 genetic disease ISO RGD:1349700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267306 ZNF300 zinc finger protein 300 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349700 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12267323 LRRC73 leucine rich repeat containing 73 gene DOID:0050444 infantile Refsum disease ISO RGD:1346466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12267323 LRRC73 leucine rich repeat containing 73 gene DOID:630 genetic disease ISO RGD:1346466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267323 LRRC73 leucine rich repeat containing 73 gene DOID:905 Zellweger syndrome ISO RGD:1346466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12267340 OR10P24P olfactory receptor family 10 subfamily P member 24, pseudogene gene DOID:630 genetic disease ISO RGD:1346412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267368 SMIM9 small integral membrane protein 9 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:5481439 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12267368 SMIM9 small integral membrane protein 9 gene DOID:0050476 Barth syndrome ISO RGD:5481439 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12267368 SMIM9 small integral membrane protein 9 gene DOID:0050800 creatine transporter deficiency ISO RGD:5481439 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12267368 SMIM9 small integral membrane protein 9 gene DOID:0112003 immunodeficiency 33 ISO RGD:5481439 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12267368 SMIM9 small integral membrane protein 9 gene DOID:10588 adrenoleukodystrophy ISO RGD:5481439 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12267368 SMIM9 small integral membrane protein 9 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:5481439 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12267368 SMIM9 small integral membrane protein 9 gene DOID:12134 factor VIII deficiency ISO RGD:5481439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Factor VIII deficiency, congenital PMID:2105106 12267368 SMIM9 small integral membrane protein 9 gene DOID:12849 autistic disorder ISO RGD:5481439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12267368 SMIM9 small integral membrane protein 9 gene DOID:13628 favism ISO RGD:5481439 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12267368 SMIM9 small integral membrane protein 9 gene DOID:2729 dyskeratosis congenita ISO RGD:5481439 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12267368 SMIM9 small integral membrane protein 9 gene DOID:607 paraplegia ISO RGD:5481439 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12267368 SMIM9 small integral membrane protein 9 gene DOID:630 genetic disease ISO RGD:5481439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267368 SMIM9 small integral membrane protein 9 gene DOID:9002720 Splenomegaly ISO RGD:5481439 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12267450 CCND1 cyclin D1 gene DOID:0001816 angiosarcoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 12267450 CCND1 cyclin D1 gene DOID:0050746 mantle cell lymphoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22383795|PMID:26174628 12267450 CCND1 cyclin D1 gene DOID:0050746 mantle cell lymphoma ISO RGD:68556 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow, peripheral blood (human) PMID:24060591|REF_RGD_ID:11352827 12267450 CCND1 cyclin D1 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:68556 D RGD:9068941 20220825 RGD protein:increased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 12267450 CCND1 cyclin D1 gene DOID:0050902 medulloblastoma ISO RGD:68557 D RGD:9068941 20200609 RGD PMID:16943274|REF_RGD_ID:13681932 12267450 CCND1 cyclin D1 gene DOID:0050912 colon adenoma severity ISO RGD:68556 D RGD:9068941 20220311 RGD PMID:11375949|REF_RGD_ID:151665121 12267450 CCND1 cyclin D1 gene DOID:0060060 non-Hodgkin lymphoma susceptibility ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:snp:exon:c.870G>A (human) PMID:25169547|REF_RGD_ID:11353786 12267450 CCND1 cyclin D1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151359 12267450 CCND1 cyclin D1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:68556 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:14612904|REF_RGD_ID:2289132 12267450 CCND1 cyclin D1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12267450 CCND1 cyclin D1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:68557 D RGD:9068941 20200609 RGD mRNA:increased expression:B cell (mouse) PMID:23169640|REF_RGD_ID:11353783 12267450 CCND1 cyclin D1 gene DOID:10283 prostate cancer ISO RGD:68384 D RGD:9068941 20200609 RGD PMID:17908994|REF_RGD_ID:2289128 12267450 CCND1 cyclin D1 gene DOID:1059 intellectual disability ISO RGD:68556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12267450 CCND1 cyclin D1 gene DOID:11054 urinary bladder cancer ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:bladder PMID:12372886|REF_RGD_ID:13602096 12267450 CCND1 cyclin D1 gene DOID:11054 urinary bladder cancer ISO RGD:68556 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 12267450 CCND1 cyclin D1 gene DOID:11624 penile benign neoplasm ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:nucleus PMID:17695500|REF_RGD_ID:2289129 12267450 CCND1 cyclin D1 gene DOID:11832 visual epilepsy ISO RGD:68384 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, cerebral cortex PMID:16696308|REF_RGD_ID:2289147 12267450 CCND1 cyclin D1 gene DOID:1240 leukemia ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10602166 12267450 CCND1 cyclin D1 gene DOID:13543 hyperparathyroidism ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21541686 12267450 CCND1 cyclin D1 gene DOID:14175 von Hippel-Lindau disease ISO RGD:68556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF PMID:10667569|PMID:11459873|PMID:12097293|PMID:23502783|PMID:24870244 12267450 CCND1 cyclin D1 gene DOID:14175 von Hippel-Lindau disease susceptibility ISO RGD:68556 D RGD:7240710 20230505 OMIM 12267450 CCND1 cyclin D1 gene DOID:1749 squamous cell carcinoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 12267450 CCND1 cyclin D1 gene DOID:1749 squamous cell carcinoma susceptibility ISO RGD:68556 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms;DNA:polymorphism: :870A>G PMID:18548202|REF_RGD_ID:2296032 12267450 CCND1 cyclin D1 gene DOID:1793 pancreatic cancer ISO RGD:68556 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:22722256|REF_RGD_ID:13451541 12267450 CCND1 cyclin D1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:68557 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas (mouse) PMID:11159909|REF_RGD_ID:13452385 12267450 CCND1 cyclin D1 gene DOID:1793 pancreatic cancer treatment ISO RGD:68556 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:17541034|REF_RGD_ID:13462059 12267450 CCND1 cyclin D1 gene DOID:1824 status epilepticus treatment ISO RGD:68384 D RGD:9068941 20200609 RGD PMID:24051278|REF_RGD_ID:11352818 12267450 CCND1 cyclin D1 gene DOID:1875 impotence ISO RGD:68384 D RGD:9068941 20200609 RGD mRNA:decreased expression:penis erectile tissue PMID:17137605|REF_RGD_ID:1625408 12267450 CCND1 cyclin D1 gene DOID:2615 papilloma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151359 12267450 CCND1 cyclin D1 gene DOID:2671 transitional cell carcinoma ISO RGD:68384 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder PMID:16896691|REF_RGD_ID:2289144 12267450 CCND1 cyclin D1 gene DOID:2671 transitional cell carcinoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151359 12267450 CCND1 cyclin D1 gene DOID:2671 transitional cell carcinoma ISO RGD:68556 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder PMID:16896691|REF_RGD_ID:2289144 12267450 CCND1 cyclin D1 gene DOID:2671 transitional cell carcinoma ISO RGD:68557 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder PMID:16896691|REF_RGD_ID:2289144 12267450 CCND1 cyclin D1 gene DOID:299 adenocarcinoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 12267450 CCND1 cyclin D1 gene DOID:305 carcinoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:14522882|PMID:16316942|PMID:17173897 12267450 CCND1 cyclin D1 gene DOID:3069 malignant astrocytoma severity ISO RGD:68556 D RGD:9068941 20200609 RGD PMID:10419598|REF_RGD_ID:13681931 12267450 CCND1 cyclin D1 gene DOID:3070 high grade glioma ISO RGD:68557 D RGD:9068941 20200609 RGD PMID:21844184|REF_RGD_ID:13702091 12267450 CCND1 cyclin D1 gene DOID:3070 high grade glioma disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD PMID:21844184|REF_RGD_ID:13702091 12267450 CCND1 cyclin D1 gene DOID:3070 high grade glioma susceptibility ISO RGD:68556 D RGD:9068941 20200609 RGD PMID:22304571|REF_RGD_ID:13681930 12267450 CCND1 cyclin D1 gene DOID:3457 invasive lobular carcinoma ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:amplification:cds (human) PMID:12448002|REF_RGD_ID:11353788 12267450 CCND1 cyclin D1 gene DOID:3457 invasive lobular carcinoma ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:12203362|REF_RGD_ID:2289133 12267450 CCND1 cyclin D1 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:22939953|REF_RGD_ID:13462062 12267450 CCND1 cyclin D1 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:snp:exon:c.870G>A (human) PMID:25470788|REF_RGD_ID:13462050 12267450 CCND1 cyclin D1 gene DOID:3571 liver cancer disease_progression ISO RGD:68384 D RGD:9068941 20220224 RGD protein:increased expression:liver (rat) PMID:11797828|REF_RGD_ID:151356973 12267450 CCND1 cyclin D1 gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:17420962|REF_RGD_ID:13462063 12267450 CCND1 cyclin D1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 12267450 CCND1 cyclin D1 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:27498289|REF_RGD_ID:13434929 12267450 CCND1 cyclin D1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD PMID:26055143|REF_RGD_ID:11052612 12267450 CCND1 cyclin D1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:amplification PMID:9462706|REF_RGD_ID:13434928 12267450 CCND1 cyclin D1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD mRNA:splice variant PMID:18715616|REF_RGD_ID:13434926 12267450 CCND1 cyclin D1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:SNP: :870A>G (human) PMID:16406195|REF_RGD_ID:13434924 12267450 CCND1 cyclin D1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD PMID:26681199|REF_RGD_ID:11536846 12267450 CCND1 cyclin D1 gene DOID:3910 lung adenocarcinoma treatment ISO RGD:68556 D RGD:9068941 20200609 RGD PMID:19355812|REF_RGD_ID:13434927 12267450 CCND1 cyclin D1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:68556 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid PMID:28677753|REF_RGD_ID:13792605 12267450 CCND1 cyclin D1 gene DOID:4001 ovarian carcinoma treatment ISO RGD:68556 D RGD:9068941 20200710 RGD PMID:18025280|REF_RGD_ID:2296036 12267450 CCND1 cyclin D1 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:25053516|REF_RGD_ID:13462053 12267450 CCND1 cyclin D1 gene DOID:4450 renal cell carcinoma ISO RGD:68556 D RGD:9068941 20200609 RGD PMID:17924468|REF_RGD_ID:2289127 12267450 CCND1 cyclin D1 gene DOID:4450 renal cell carcinoma ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15538282|REF_RGD_ID:2289130 12267450 CCND1 cyclin D1 gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:14674039|REF_RGD_ID:13434930 12267450 CCND1 cyclin D1 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:snp:exon:c.870G>A (human) PMID:29739297|REF_RGD_ID:13673912 12267450 CCND1 cyclin D1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26909611|PMID:29464035 12267450 CCND1 cyclin D1 gene DOID:5520 head and neck squamous cell carcinoma disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD PMID:9796972|REF_RGD_ID:13434911 12267450 CCND1 cyclin D1 gene DOID:630 genetic disease ISO RGD:68556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267450 CCND1 cyclin D1 gene DOID:6827 pancreatic solid pseudopapillary carcinoma severity ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:19248223|REF_RGD_ID:13462054 12267450 CCND1 cyclin D1 gene DOID:684 hepatocellular carcinoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12029619|PMID:19919837|PMID:22649188|PMID:25822088|PMID:26189965 12267450 CCND1 cyclin D1 gene DOID:684 hepatocellular carcinoma ISO RGD:68557 D RGD:9068941 20210702 RGD mRNA:increased expression:liver (mouse) PMID:28100771|REF_RGD_ID:127285675 12267450 CCND1 cyclin D1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:68556 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic;DNA:SNP:splice-site mutation:870G>A (human) PMID:25851350|REF_RGD_ID:14401586 12267450 CCND1 cyclin D1 gene DOID:8634 prostate carcinoma in situ ISO RGD:68557 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:prostate gland PMID:14968434|REF_RGD_ID:2289283 12267450 CCND1 cyclin D1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:18301453|REF_RGD_ID:2293574 12267450 CCND1 cyclin D1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12235107 12267450 CCND1 cyclin D1 gene DOID:9000217 Stomach Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21628965 12267450 CCND1 cyclin D1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:14522882|PMID:16316942|PMID:17173897 12267450 CCND1 cyclin D1 gene DOID:9000918 Disease Progression ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29103775 12267450 CCND1 cyclin D1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:68556 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung;mRNA:splice variant PMID:18715616|REF_RGD_ID:13434926 12267450 CCND1 cyclin D1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:68556 D RGD:9068941 20220616 RGD associated with stomach cancer; human cells in mouse model PMID:27431311|REF_RGD_ID:152995400 12267450 CCND1 cyclin D1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:68384 D RGD:9068941 20200609 RGD PMID:17055752|REF_RGD_ID:2289139 12267450 CCND1 cyclin D1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 12267450 CCND1 cyclin D1 gene DOID:9001642 Intestinal Polyps ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12584176 12267450 CCND1 cyclin D1 gene DOID:9002170 Experimental Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 12267450 CCND1 cyclin D1 gene DOID:9002221 Hyperplasia ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151359|PMID:21541686 12267450 CCND1 cyclin D1 gene DOID:9002265 Kidney Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21693435 12267450 CCND1 cyclin D1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17606477 12267450 CCND1 cyclin D1 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:68557 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:prostate gland PMID:14968434|REF_RGD_ID:2289283 12267450 CCND1 cyclin D1 gene DOID:9002928 Colonic Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18283038|PMID:19147571|PMID:21081470|PMID:21188121 12267450 CCND1 cyclin D1 gene DOID:9002981 Genomic Instability ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8548770 12267450 CCND1 cyclin D1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12267450 CCND1 cyclin D1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 12267450 CCND1 cyclin D1 gene DOID:9003373 Uterine Cervical Neoplasms onset ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:polymorphism: :870A>G PMID:18355450|REF_RGD_ID:2296033 12267450 CCND1 cyclin D1 gene DOID:9003694 Cecal Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14688030 12267450 CCND1 cyclin D1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:68556 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12267450 CCND1 cyclin D1 gene DOID:9004009 Reperfusion Injury ISO RGD:68384 D RGD:9068941 20200609 RGD PMID:16718823|REF_RGD_ID:2289145 12267450 CCND1 cyclin D1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:68556 D RGD:9068941 20200626 RGD mRNA:increased expression:CD19+Bcell: PMID:20189883|REF_RGD_ID:32716380 12267450 CCND1 cyclin D1 gene DOID:9004078 Pancreatic Intraepithelial Neoplasia ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:12882690|REF_RGD_ID:13462061 12267450 CCND1 cyclin D1 gene DOID:9004078 Pancreatic Intraepithelial Neoplasia disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:11751405|REF_RGD_ID:13464129 12267450 CCND1 cyclin D1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23811263 12267450 CCND1 cyclin D1 gene DOID:9004643 Urologic Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21040761 12267450 CCND1 cyclin D1 gene DOID:9005172 Lung Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11307925|PMID:16289808 12267450 CCND1 cyclin D1 gene DOID:9005207 Nasopharyngeal Neoplasms onset ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:polymorphism: :870A>G PMID:18355450|REF_RGD_ID:2296033 12267450 CCND1 cyclin D1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68384 D RGD:9068941 20200609 RGD PMID:12602925|REF_RGD_ID:2289337 12267450 CCND1 cyclin D1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68384 D RGD:9068941 20200609 RGD protein:decreased expression:mammary gland PMID:12649181|REF_RGD_ID:2289336 12267450 CCND1 cyclin D1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68384 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 12267450 CCND1 cyclin D1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68384 D RGD:9068941 20220331 RGD mRNA, protein:increased expression:mammary gland (rat) PMID:12376462|REF_RGD_ID:2292404 12267450 CCND1 cyclin D1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:14522882|PMID:16316942 12267450 CCND1 cyclin D1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68557 D RGD:9068941 20200609 RGD PMID:17440082|REF_RGD_ID:2296037 12267450 CCND1 cyclin D1 gene DOID:9007102 Myocardial Ischemia ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12267450 CCND1 cyclin D1 gene DOID:9007170 Bowen's Disease ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29103775 12267450 CCND1 cyclin D1 gene DOID:9007188 Liver Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27064257 12267450 CCND1 cyclin D1 gene DOID:9007502 Brain Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20932960|PMID:27935819 12267450 CCND1 cyclin D1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21726611|PMID:24362009 12267450 CCND1 cyclin D1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29232554 12267450 CCND1 cyclin D1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:18306533|REF_RGD_ID:2296034 12267450 CCND1 cyclin D1 gene DOID:9007730 Burns ISO RGD:68384 D RGD:9068941 20200609 RGD PMID:17996899|REF_RGD_ID:2289134 12267450 CCND1 cyclin D1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:68556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12267450 CCND1 cyclin D1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:68556 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 12267450 CCND1 cyclin D1 gene DOID:9008939 Breast Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12839951|PMID:17255770|PMID:19636701|PMID:20948315|PMID:23839043|PMID:25267515 12267450 CCND1 cyclin D1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15647071|REF_RGD_ID:2289131 12267450 CCND1 cyclin D1 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:18194538|REF_RGD_ID:2289126 12267450 CCND1 cyclin D1 gene DOID:9119 acute myeloid leukemia ISO RGD:68556 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow (human) PMID:22391157|REF_RGD_ID:11352824 12267450 CCND1 cyclin D1 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:68556 D RGD:9068941 20200609 RGD human tumor in a mouse model PMID:21928377|REF_RGD_ID:11353789 12267450 CCND1 cyclin D1 gene DOID:9256 colorectal cancer ISO RGD:68556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to PMID:10667569|PMID:11459873|PMID:12097293|PMID:23502783|PMID:24870244 12267450 CCND1 cyclin D1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:68556 D RGD:7240710 20230505 OMIM 12267450 CCND1 cyclin D1 gene DOID:9538 multiple myeloma ISO RGD:68556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma, translocation 11,14 type PMID:10667569|PMID:11459873|PMID:12097293|PMID:23502783|PMID:24870244 12267450 CCND1 cyclin D1 gene DOID:9538 multiple myeloma susceptibility ISO RGD:68556 D RGD:7240710 20230505 OMIM 12267450 CCND1 cyclin D1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:68556 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow (human) PMID:22391157|REF_RGD_ID:11352824 12267457 ALAS1 5'-aminolevulinate synthase 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:68572 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12267457 ALAS1 5'-aminolevulinate synthase 1 gene DOID:13268 porphyria ISO RGD:68392 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:7547054|REF_RGD_ID:4145274 12267457 ALAS1 5'-aminolevulinate synthase 1 gene DOID:13268 porphyria ISO RGD:68572 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9222176 12267457 ALAS1 5'-aminolevulinate synthase 1 gene DOID:630 genetic disease ISO RGD:68572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267457 ALAS1 5'-aminolevulinate synthase 1 gene DOID:6432 pulmonary hypertension ISO RGD:68392 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:16181105|REF_RGD_ID:4144185 12267457 ALAS1 5'-aminolevulinate synthase 1 gene DOID:9000884 Rhabdomyolysis ISO RGD:68392 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:16846079|REF_RGD_ID:4144834 12267457 ALAS1 5'-aminolevulinate synthase 1 gene DOID:9004484 Sepsis ISO RGD:68392 D RGD:9068941 20200609 RGD mRNA:increased expression:duodenum, jejunum, ileum (rat) PMID:12627002|REF_RGD_ID:4144178 12267457 ALAS1 5'-aminolevulinate synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:68392 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:6688350|REF_RGD_ID:4144808 12267475 SCAF11 SR-related CTD associated factor 11 gene DOID:630 genetic disease ISO RGD:1354010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267499 CD163 CD163 molecule gene DOID:0050120 hemophagocytic lymphohistiocytosis ISO RGD:1321258 D RGD:9068941 20210702 RGD protein:increased expression:blood serum (human) PMID:15613100|REF_RGD_ID:127285796 12267499 CD163 CD163 molecule gene DOID:0050523 adult T-cell leukemia/lymphoma disease_progression ISO RGD:1321258 D RGD:9068941 20210226 RGD protein:increased expression:lymph node tumor (human) PMID:23557330|REF_RGD_ID:42721976 12267499 CD163 CD163 molecule gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1321258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12267499 CD163 CD163 molecule gene DOID:0080208 non-alcoholic fatty liver disease exacerbates ISO RGD:1321258 D RGD:9068941 20210709 RGD protein:increased expression:blood serum (human) PMID:31027316|REF_RGD_ID:127345132 12267499 CD163 CD163 molecule gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1321258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12267499 CD163 CD163 molecule gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1321258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12267499 CD163 CD163 molecule gene DOID:0080600 COVID-19 ISO RGD:1321258 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12267499 CD163 CD163 molecule gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1321258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12267499 CD163 CD163 molecule gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1321258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 12267499 CD163 CD163 molecule gene DOID:0081292 traumatic brain injury ISO RGD:1310382 D RGD:9068941 20210702 RGD protein:increased expression:brain, macrophage (rat) PMID:22583855|REF_RGD_ID:127285798 12267499 CD163 CD163 molecule gene DOID:0111621 Temtamy syndrome ISO RGD:1321258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12267499 CD163 CD163 molecule gene DOID:10887 lepromatous leprosy ISO RGD:1321258 D RGD:9068941 20210702 RGD protein:increased expression:blood serum (human) PMID:22851198|REF_RGD_ID:39939078 12267499 CD163 CD163 molecule gene DOID:10887 lepromatous leprosy exacerbates ISO RGD:1321258 D RGD:9068941 20210709 RGD protein:increased expression:blood serum (human) PMID:28355218|REF_RGD_ID:127345133 12267499 CD163 CD163 molecule gene DOID:11077 brucellosis treatment ISO RGD:1321258 D RGD:9068941 20210723 RGD PMID:32069255|REF_RGD_ID:149735531 12267499 CD163 CD163 molecule gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome exacerbates ISO RGD:1321258 D RGD:9068941 20210702 RGD protein:increased expression:CD14-positive monocyte (human) PMID:29857122|REF_RGD_ID:127285683 12267499 CD163 CD163 molecule gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome exacerbates ISO RGD:1321258 D RGD:9068941 20210702 RGD protein:increased expression:blood plasma (human) PMID:25789628|REF_RGD_ID:127285679 12267499 CD163 CD163 molecule gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome exacerbates ISO RGD:1321258 D RGD:9068941 20210709 RGD protein:increased expression:CD14-positive, CD16-positive monocyte, blood plasma (human) PMID:25392926|REF_RGD_ID:127345131 12267499 CD163 CD163 molecule gene DOID:12365 malaria exacerbates ISO RGD:1321258 D RGD:9068941 20210702 RGD protein:increased expression:blood plasma (human) PMID:22290142|REF_RGD_ID:127285797 12267499 CD163 CD163 molecule gene DOID:12365 malaria severity ISO RGD:1321258 D RGD:9068941 20210723 RGD protein:altered expression:blood plasma (human) PMID:18632918|REF_RGD_ID:149735529 12267499 CD163 CD163 molecule gene DOID:13141 uveitis ISO RGD:1310382 D RGD:9068941 20210702 RGD associated with Endotoxemia;protein:increased expression:iris (rat) PMID:19347047|REF_RGD_ID:2312506 12267499 CD163 CD163 molecule gene DOID:13254 diverticulitis of colon exacerbates ISO RGD:1321258 D RGD:9068941 20210702 RGD protein:increased expression:sigmoid colon (human) PMID:21553154|REF_RGD_ID:40925945 12267499 CD163 CD163 molecule gene DOID:1749 squamous cell carcinoma ISO RGD:1321258 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 12267499 CD163 CD163 molecule gene DOID:2018 hyperinsulinism ISO RGD:1321258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 12267499 CD163 CD163 molecule gene DOID:2280 hidradenitis suppurativa ISO RGD:1321258 D RGD:9068941 20210702 RGD protein:increased expression:dermis (human) PMID:29603182|REF_RGD_ID:127285799 12267499 CD163 CD163 molecule gene DOID:2394 ovarian cancer ameliorates ISO RGD:1321259 D RGD:9068941 20210723 RGD PMID:31951251|REF_RGD_ID:149735527 12267499 CD163 CD163 molecule gene DOID:2913 acute pancreatitis ISO RGD:1321258 D RGD:9068941 20210730 RGD associated with liver disease;protein:increased expression:blood serum (human) PMID:26339412|REF_RGD_ID:11251207 12267499 CD163 CD163 molecule gene DOID:2921 glomerulonephritis ISO RGD:1321258 D RGD:9068941 20210730 RGD associated with liver disease;protein:increased expression:blood serum (human) PMID:26339412|REF_RGD_ID:11251207 12267499 CD163 CD163 molecule gene DOID:2957 pulmonary tuberculosis ISO RGD:1321258 D RGD:9068941 20210702 RGD protein:increased expression:blood plasma, CD14-positive monocyte (human) PMID:27685837|REF_RGD_ID:127285801 12267499 CD163 CD163 molecule gene DOID:2957 pulmonary tuberculosis exacerbates ISO RGD:1321258 D RGD:9068941 20210709 RGD protein:increased expression:blood serum (human) PMID:27684274|REF_RGD_ID:127345136 12267499 CD163 CD163 molecule gene DOID:2986 IgA glomerulonephritis ISO RGD:1321258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 12267499 CD163 CD163 molecule gene DOID:3407 carotid artery disease ISO RGD:1321258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17095719 12267499 CD163 CD163 molecule gene DOID:3910 lung adenocarcinoma ISO RGD:1321258 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 12267499 CD163 CD163 molecule gene DOID:4195 hyperglycemia ISO RGD:1321258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 12267499 CD163 CD163 molecule gene DOID:4325 Ebola hemorrhagic fever exacerbates ISO RGD:1321258 D RGD:9068941 20210723 RGD protein:increased expression:blood plasma (human) PMID:30666927|REF_RGD_ID:149735528 12267499 CD163 CD163 molecule gene DOID:5082 liver cirrhosis ISO RGD:1321258 D RGD:9068941 20210730 RGD protein:increased expression:blood serum (human) PMID:26339412|REF_RGD_ID:11251207 12267499 CD163 CD163 molecule gene DOID:5082 liver cirrhosis exacerbates ISO RGD:1321258 D RGD:9068941 20210702 RGD associated with Chronic Hepatitis B, Chronic Hepatitis C;protein:increased expression:blood plasma (human) PMID:24623375|REF_RGD_ID:127285681 12267499 CD163 CD163 molecule gene DOID:526 human immunodeficiency virus infectious disease exacerbates ISO RGD:1321258 D RGD:9068941 20210702 RGD protein:increased expression:blood plasma (human) PMID:23916293|REF_RGD_ID:127285682 12267499 CD163 CD163 molecule gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:1321258 D RGD:9068941 20210730 RGD PMID:24594990|REF_RGD_ID:149735575 12267499 CD163 CD163 molecule gene DOID:552 pneumonia ISO RGD:1321258 D RGD:9068941 20210730 RGD associated with liver disease;protein:increased expression:blood serum (human) PMID:26339412|REF_RGD_ID:11251207 12267499 CD163 CD163 molecule gene DOID:630 genetic disease ISO RGD:1321258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267499 CD163 CD163 molecule gene DOID:684 hepatocellular carcinoma ISO RGD:1321258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12267499 CD163 CD163 molecule gene DOID:8476 Whipple disease ISO RGD:1321258 D RGD:9068941 20210730 RGD protein:increased expression:duodenum, macrophage (human) PMID:19664628|REF_RGD_ID:149735573 12267499 CD163 CD163 molecule gene DOID:9000238 Acute-On-Chronic Liver Failure exacerbates ISO RGD:1321258 D RGD:9068941 20210702 RGD associated with Chronic Hepatitis B;protein:increased expression:blood plasma (human) PMID:23687420|REF_RGD_ID:127285680 12267499 CD163 CD163 molecule gene DOID:9000509 Epstein-Barr Virus Infections ISO RGD:1321258 D RGD:9068941 20210709 RGD associated with Hodgkin's lymphoma;protein:increased expression:macrophage (human) PMID:21602260|REF_RGD_ID:40925915 12267499 CD163 CD163 molecule gene DOID:9000509 Epstein-Barr Virus Infections ISO RGD:1321258 D RGD:9068941 20210709 RGD associated with Hodgkin's lymphoma;protein:increased expression:multiple (human) PMID:21071500|REF_RGD_ID:40925944 12267499 CD163 CD163 molecule gene DOID:9000684 Porcine Reproductive and Respiratory Syndrome ameliorates ISO RGD:1603525 D RGD:9068941 20210702 RGD PMID:30745836|REF_RGD_ID:127285677 12267499 CD163 CD163 molecule gene DOID:9000684 Porcine Reproductive and Respiratory Syndrome susceptibility ISO RGD:14034736 D RGD:9068941 20210702 RGD PMID:27847356|PMID:31440241|REF_RGD_ID:127285645|REF_RGD_ID:127285676 12267499 CD163 CD163 molecule gene DOID:9001553 Spinal Cord Compression disease_progression ISO RGD:1310382 D RGD:9068941 20210730 RGD protein:increased expression:gray matter of spinal cord, white matter of spinal cord (rat) PMID:23775900|REF_RGD_ID:149735576 12267499 CD163 CD163 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1321258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12267499 CD163 CD163 molecule gene DOID:9002011 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9 exacerbates ISO RGD:1321258 D RGD:9068941 20210709 RGD associated with Human Influenza;protein:increased expression:blood serum (human) PMID:23149357|REF_RGD_ID:127345135 12267499 CD163 CD163 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:1321258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12267499 CD163 CD163 molecule gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis exacerbates ISO RGD:1321258 D RGD:9068941 20210702 RGD protein:increased expression:blood serum (human) PMID:27094919|REF_RGD_ID:127285685 12267499 CD163 CD163 molecule gene DOID:9004017 Chronic Hepatitis C exacerbates ISO RGD:1321258 D RGD:9068941 20210730 RGD protein:increased expression:blood serum (human) PMID:26554542|REF_RGD_ID:149735574 12267499 CD163 CD163 molecule gene DOID:9004484 Sepsis ISO RGD:1321258 D RGD:9068941 20210702 RGD protein:increased expression:blood serum, CD-14 positive monocyte (human) PMID:24637679|REF_RGD_ID:127285802 12267499 CD163 CD163 molecule gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:1321258 D RGD:9068941 20210709 RGD protein:increased expression:blood serum (human) PMID:31027316|REF_RGD_ID:127345132 12267499 CD163 CD163 molecule gene DOID:9007041 Actinobacillus Infections ISO RGD:14034736 D RGD:9068941 20210709 RGD protein:increased expression:lung (pig) PMID:33287430|REF_RGD_ID:127345134 12267499 CD163 CD163 molecule gene DOID:9007329 Human Viral Hepatitis ISO RGD:1321258 D RGD:9068941 20210723 RGD associated with human immunodeficiency virus infectious disease, opioid abuse;protein:increased expression:blood plasma (human) PMID:31687981|REF_RGD_ID:149735532 12267499 CD163 CD163 molecule gene DOID:9007692 Insulin Resistance ISO RGD:1321258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 12267499 CD163 CD163 molecule gene DOID:9007692 Insulin Resistance exacerbates ISO RGD:1321258 D RGD:9068941 20210730 RGD associated with hepatitis C, human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human) PMID:26554542|REF_RGD_ID:149735574 12267499 CD163 CD163 molecule gene DOID:9007772 Abdominal Obesity exacerbates ISO RGD:1321258 D RGD:9068941 20210709 RGD protein:increased expression:blood serum (human) PMID:31027316|REF_RGD_ID:127345132 12267499 CD163 CD163 molecule gene DOID:9007874 Liver Failure ISO RGD:1321258 D RGD:9068941 20210702 RGD associated with hepatitis B;protein:increased expression:liver, peripheral blood mononuclear cell (human) PMID:24597777|REF_RGD_ID:127285684 12267499 CD163 CD163 molecule gene DOID:9007874 Liver Failure ISO RGD:1321258 D RGD:9068941 20210730 RGD protein:increased expression:blood serum (human) PMID:26339412|REF_RGD_ID:11251207 12267499 CD163 CD163 molecule gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1321258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12267499 CD163 CD163 molecule gene DOID:9008163 Chronic Hepatitis B ISO RGD:1321258 D RGD:9068941 20210730 RGD protein:increased expression:blood serum (human) PMID:26339412|REF_RGD_ID:11251207 12267499 CD163 CD163 molecule gene DOID:9008885 Staphylococcal Infections exacerbates ISO RGD:1321259 D RGD:9068941 20210702 RGD PMID:32199911|REF_RGD_ID:127285678 12267499 CD163 CD163 molecule gene DOID:9111 cutaneous leishmaniasis ISO RGD:1321258 D RGD:9068941 20210709 RGD mRNA, protein:increased expression:skin of body, blood plasma, CD14-positive monocyte (human) PMID:32023254|REF_RGD_ID:127345130 12267499 CD163 CD163 molecule gene DOID:9146 visceral leishmaniasis exacerbates ISO RGD:1321258 D RGD:9068941 20210709 RGD protein:increased expression:blood serum (human) PMID:28355218|REF_RGD_ID:127345133 12267499 CD163 CD163 molecule gene DOID:9261 nasopharynx carcinoma exacerbates ISO RGD:1321258 D RGD:9068941 20210702 RGD protein:increased expression:nasopharynx, macrophage (human) PMID:28395580|REF_RGD_ID:127285800 12267499 CD163 CD163 molecule gene DOID:9452 fatty liver disease ISO RGD:1321258 D RGD:9068941 20210730 RGD associated with hepatitis B;protein:increased expression:blood serum (human) PMID:26339412|REF_RGD_ID:11251207 12267499 CD163 CD163 molecule gene DOID:9970 obesity ISO RGD:1321258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 12267531 UNC5B unc-5 netrin receptor B gene DOID:0060041 autism spectrum disorder ISO RGD:736493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12267531 UNC5B unc-5 netrin receptor B gene DOID:630 genetic disease ISO RGD:736493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12267531 UNC5B unc-5 netrin receptor B gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:736493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29162556 12267553 VCP valosin containing protein gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:731621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 12267553 VCP valosin containing protein gene DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ISO RGD:731621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia PMID:15034582|PMID:16247064|PMID:16321991|PMID:16790606|PMID:16984901|PMID:17329348|PMID:17763460|PMID:18341608|PMID:18845250|PMID:19225410|PMID:19237541|PMID:19364651|PMID:19506019|PMID:19704082|PMID:20008565|PMID:20104022|PMID:20512113|PMID:20604808|PMID:20957154|PMID:21145000|PMID:21320982|PMID:21387114|PMID:21822278|PMID:21920633|PMID:21984748|PMID:22078486|PMID:22137929|PMID:22270372|PMID:22686199|PMID:22898872|PMID:22900631|PMID:22909335|PMID:23029473|PMID:23056506|PMID:23169451|PMID:23333620|PMID:23498975|PMID:24196964|PMID:24829604|PMID:25125609|PMID:25326637|PMID:25388089|PMID:25492614|PMID:25617006|PMID:25618255|PMID:25741868|PMID:25775548|PMID:26105173|PMID:26467025|PMID:26549226|PMID:26555887|PMID:27226613|PMID:27538664|PMID:27708273|PMID:27768726|PMID:27790088|PMID:28130640|PMID:28360103|PMID:28492532|PMID:28692196|PMID:29754758|PMID:30005904|PMID:30279455|PMID:30293881|PMID:31687228|PMID:31848255|PMID:33144514|PMID:7182974 12267553 VCP valosin containing protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:731621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant PMID:11438206|PMID:16643430|PMID:24728327|PMID:25741868|PMID:26740942|PMID:28492532 12267553 VCP valosin containing protein gene DOID:0060198 amyotrophic lateral sclerosis type 6 ISO RGD:731621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6 PMID:30103325 12267553 VCP valosin containing protein gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:731621 D RGD:7240710 20180130 OMIM 12267553 VCP valosin containing protein gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:731621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:15034582|PMID:16247064|PMID:16321991|PMID:16790606|PMID:16984901|PMID:17329348|PMID:17576681|PMID:17622780|PMID:17763460|PMID:17889967|PMID:18341608|PMID:18845250|PMID:19208399|PMID:19225410|PMID:19237541|PMID:19364651|PMID:19506019|PMID:19704082|PMID:20008565|PMID:20104022|PMID:20512113|PMID:20604808|PMID:20957154|PMID:21145000|PMID:21249466|PMID:21320982|PMID:21387114|PMID:21816654|PMID:21822278|PMID:21880997|PMID:21920633|PMID:21984748|PMID:22078486|PMID:22137929|PMID:22270372|PMID:22572540|PMID:22686199|PMID:22898872|PMID:22900631|PMID:22909335|PMID:23000505|PMID:23029473|PMID:23056506|PMID:23152587|PMID:23169451|PMID:23333620|PMID:23498975|PMID:23868359|PMID:24123792|PMID:24196964|PMID:24829604|PMID:25125609|PMID:25326637|PMID:25388089|PMID:25492614|PMID:25617006|PMID:25618255|PMID:25741868|PMID:25775548|PMID:25878907|PMID:26105173|PMID:26467025|PMID:26511028|PMID:26549226|PMID:26555887|PMID:26627873|PMID:26809617|PMID:26853221|PMID:27165006|PMID:27226613|PMID:27538664|PMID:27708273|PMID:27768726|PMID:27790088|PMID:28130640|PMID:28360103|PMID:28492532|PMID:28542158|PMID:28692196|PMID:28709720|PMID:29033165|PMID:29127544|PMID:29754758|PMID:30005904|PMID:30103325|PMID:30103957|PMID:30270202|PMID:30279455|PMID:30293881|PMID:30488450|PMID:30955949|PMID:31687228|PMID:31848255|PMID:31914217|PMID:32036797|PMID:32481679|PMID:33144514|PMID:7182974|PMID:9536098 12267553 VCP valosin containing protein gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:731621 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12267553 VCP valosin containing protein gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:731621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant PMID:11438206|PMID:16643430|PMID:24728327|PMID:25741868|PMID:26740942|PMID:28492532 12267553 VCP valosin containing protein gene DOID:0080942 anauxetic dysplasia ISO RGD:731621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12267553 VCP valosin containing protein gene DOID:0110168 Charcot-Marie-Tooth disease type 2Y ISO RGD:731621 D RGD:7240710 20180130 OMIM 12267553 VCP valosin containing protein gene DOID:0110168 Charcot-Marie-Tooth disease type 2Y ISO RGD:731621 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2Y | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2y PMID:15034582|PMID:19237541|PMID:21145000|PMID:21984748|PMID:22270372|PMID:22900631|PMID:23000505|PMID:23333620|PMID:23498975|PMID:24196964|PMID:25125609|PMID:25741868|PMID:25878907|PMID:26105173|PMID:26467025|PMID:27226613|PMID:27708273|PMID:28360103|PMID:28492532|PMID:28692196|PMID:29127544|PMID:30279455|PMID:32481679 12267553 VCP valosin containing protein gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:731621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12267553 VCP valosin containing protein gene DOID:0111086 Fanconi anemia complementation group G ISO RGD:731621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group G PMID:11438206|PMID:16643430|PMID:24728327|PMID:25741868|PMID:26740942|PMID:28492532 12267553 VCP valosin containing protein gene DOID:0111385 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 ISO RGD:731621 D RGD:7240710 20190320 OMIM 12267553 VCP valosin containing protein gene DOID:0111385 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 ISO RGD:731621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 1 PMID:15034582|PMID:16247064|PMID:16321991|PMID:16790606|PMID:16984901|PMID:17329348|PMID:17763460|PMID:18341608|PMID:18845250|PMID:19225410|PMID:19237541|PMID:19364651|PMID:19506019|PMID:19704082|PMID:20008565|PMID:20104022|PMID:20512113|PMID:20604808|PMID:20957154|PMID:21145000|PMID:21320982|PMID:21387114|PMID:21822278|PMID:21920633|PMID:21984748|PMID:22078486|PMID:22137929|PMID:22270372|PMID:22686199|PMID:22898872|PMID:22900631|PMID:22909335|PMID:23029473|PMID:23056506|PMID:23169451|PMID:23333620|PMID:23498975|PMID:24196964|PMID:24829604|PMID:25125609|PMID:25326637|PMID:25388089|PMID:25492614|PMID:25617006|PMID:25618255|PMID:25741868|PMID:25775548|PMID:26105173|PMID:26467025|PMID:26549226|PMID:26555887|PMID:27226613|PMID:27538664|PMID:27708273|PMID:27768726|PMID:27790088|PMID:28130640|PMID:28360103|PMID:28492532|PMID:28692196|PMID:30005904|PMID:30279455|PMID:30293881|PMID:31687228|PMID:31848255|PMID:33144514|PMID:7182974 12267553 VCP valosin containing protein gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:731621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12267553 VCP valosin containing protein gene DOID:1059 intellectual disability ISO RGD:731621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21387114|PMID:21920633|PMID:25617006|PMID:25741868|PMID:26467025|PMID:28492532 12267553 VCP valosin containing protein gene DOID:10652 Alzheimer's disease ISO RGD:731621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:30279455 12267553 VCP valosin containing protein gene DOID:12217 Lewy body dementia ISO RGD:731621 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lewy body dementia PMID:28492532 12267553 VCP valosin containing protein gene DOID:1307 dementia ISO RGD:731621 D RGD:9068941 20200609 RGD IBMPFD, OMIM:167320 PMID:15034582|REF_RGD_ID:1599735 12267553 VCP valosin containing protein gene DOID:13636 Fanconi anemia ISO RGD:731621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:11438206|PMID:16643430|PMID:24728327|PMID:25741868|PMID:26740942|PMID:28492532 12267553 VCP valosin containing protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731621 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot disease PMID:18845250|PMID:23333620|PMID:25617006|PMID:25741868|PMID:28492532|PMID:33144514 12267553 VCP valosin containing protein gene DOID:3429 inclusion body myositis ISO RGD:731621 D RGD:9068941 20200609 RGD IBMPFD, OMIM:167320 PMID:15034582|REF_RGD_ID:1599735 12267553 VCP valosin containing protein gene DOID:5408 Paget's disease of bone ISO RGD:731621 D RGD:9068941 20200609 RGD IBMPFD, OMIM:167320 PMID:15034582|REF_RGD_ID:1599735 12267553 VCP valosin containing protein gene DOID:607 paraplegia ISO RGD:731621 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:18845250|PMID:23333620|PMID:25617006|PMID:25741868|PMID:28492532|PMID:33144514 12267553 VCP valosin containing protein gene DOID:630 genetic disease ISO RGD:731621 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15034582|PMID:16321991|PMID:16790606|PMID:16984901|PMID:17329348|PMID:17576681|PMID:18341608|PMID:18845250|PMID:19237541|PMID:20008565|PMID:20104022|PMID:20512113|PMID:20604808|PMID:20957154|PMID:21145000|PMID:21387114|PMID:21822278|PMID:21920633|PMID:22078486|PMID:22137929|PMID:22270372|PMID:22686199|PMID:22898872|PMID:23029473|PMID:23169451|PMID:23333620|PMID:23498975|PMID:24196964|PMID:24838343|PMID:25125609|PMID:25388089|PMID:25617006|PMID:25618255|PMID:25741868|PMID:25775548|PMID:26467025|PMID:27790088|PMID:28130640|PMID:28492532|PMID:30270202|PMID:30293881|PMID:31687228|PMID:33144514|PMID:9536098 12267553 VCP valosin containing protein gene DOID:9000918 Disease Progression ISO RGD:731621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29693262 12267553 VCP valosin containing protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:731621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29693262 12267553 VCP valosin containing protein gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:731621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12267553 VCP valosin containing protein gene DOID:9005532 Muscle Weakness ISO RGD:731621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25884947 12267553 VCP valosin containing protein gene DOID:9006205 Animal Disease Models ISO RGD:731621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25884947 12267553 VCP valosin containing protein gene DOID:9006262 Cytomegalovirus Infections ISO RGD:731621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28494016 12267553 VCP valosin containing protein gene DOID:9008086 Developmental Disabilities ISO RGD:731621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12267553 VCP valosin containing protein gene DOID:9255 frontotemporal dementia ISO RGD:731622 D RGD:9068941 20220825 MouseDO OMIM:600274 12267553 VCP valosin containing protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:731621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12267553 VCP valosin containing protein gene DOID:9870 galactosemia ISO RGD:731621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12267574 RFNG RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:1345692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267574 RFNG RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:9004657 Weight Gain ISO RGD:1345692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12267586 AMBRA1 autophagy and beclin 1 regulator 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1604349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12267586 AMBRA1 autophagy and beclin 1 regulator 1 gene DOID:0080074 neural tube defect ISO RGD:1604349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect 12267586 AMBRA1 autophagy and beclin 1 regulator 1 gene DOID:10485 esophageal atresia ISO RGD:1604349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12267586 AMBRA1 autophagy and beclin 1 regulator 1 gene DOID:1059 intellectual disability ISO RGD:1604349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12267586 AMBRA1 autophagy and beclin 1 regulator 1 gene DOID:10652 Alzheimer's disease ISO RGD:1551408 D RGD:9068941 20200609 RGD PMID:23910655|REF_RGD_ID:14390071 12267586 AMBRA1 autophagy and beclin 1 regulator 1 gene DOID:4752 multiple system atrophy ISO RGD:1604349 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:27875637|REF_RGD_ID:14390070 12267586 AMBRA1 autophagy and beclin 1 regulator 1 gene DOID:630 genetic disease ISO RGD:1604349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267586 AMBRA1 autophagy and beclin 1 regulator 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1604349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 12267586 AMBRA1 autophagy and beclin 1 regulator 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1604349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12267620 CCDC86 coiled-coil domain containing 86 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1604295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23828858 12267620 CCDC86 coiled-coil domain containing 86 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12267620 CCDC86 coiled-coil domain containing 86 gene DOID:1059 intellectual disability ISO RGD:1604295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12267620 CCDC86 coiled-coil domain containing 86 gene DOID:630 genetic disease ISO RGD:1604295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267628 CD79A CD79a molecule gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1346600 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25049379 12267628 CD79A CD79a molecule gene DOID:0080600 COVID-19 ISO RGD:1346600 D RGD:9068941 20200709 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 12267628 CD79A CD79a molecule gene DOID:0081136 agammaglobulinemia 1 ISO RGD:1346600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 PMID:25741868|PMID:28492532 12267628 CD79A CD79a molecule gene DOID:0081137 agammaglobulinemia 3 ISO RGD:1346600 D RGD:7240710 20190327 OMIM 12267628 CD79A CD79a molecule gene DOID:0081137 agammaglobulinemia 3 ISO RGD:1346600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive PMID:10525050|PMID:11920841|PMID:16199547|PMID:17576681|PMID:24481606|PMID:24728327|PMID:25741868|PMID:28492532|PMID:33046446|PMID:9536098 12267628 CD79A CD79a molecule gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1346600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12267628 CD79A CD79a molecule gene DOID:1342 congenital hypoplastic anemia ISO RGD:1346600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12267628 CD79A CD79a molecule gene DOID:2340 craniosynostosis ISO RGD:1346600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12267628 CD79A CD79a molecule gene DOID:2583 agammaglobulinemia ISO RGD:1346600 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12267628 CD79A CD79a molecule gene DOID:5419 schizophrenia ISO RGD:1346600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12267628 CD79A CD79a molecule gene DOID:612 primary immunodeficiency disease ISO RGD:1346600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12267628 CD79A CD79a molecule gene DOID:630 genetic disease ISO RGD:1346600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12267628 CD79A CD79a molecule gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1346600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12267628 CD79A CD79a molecule gene DOID:9269 maple syrup urine disease ISO RGD:1346600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12267637 ISY1 ISY1 splicing factor homolog gene DOID:0111947 immunodeficiency 21 ISO RGD:1606526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12267637 ISY1 ISY1 splicing factor homolog gene DOID:630 genetic disease ISO RGD:1606526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267637 ISY1 ISY1 splicing factor homolog gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1606526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 12267637 ISY1 ISY1 splicing factor homolog gene DOID:9270 alkaptonuria ISO RGD:1606526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12267657 ZNF317 zinc finger protein 317 gene DOID:12849 autistic disorder ISO RGD:1345905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12267657 ZNF317 zinc finger protein 317 gene DOID:630 genetic disease ISO RGD:1345905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267671 STARD9 StAR related lipid transfer domain containing 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1349851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12267671 STARD9 StAR related lipid transfer domain containing 9 gene DOID:2717 Bloom syndrome ISO RGD:1349851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12267671 STARD9 StAR related lipid transfer domain containing 9 gene DOID:3312 bipolar disorder ISO RGD:1349851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12267671 STARD9 StAR related lipid transfer domain containing 9 gene DOID:630 genetic disease ISO RGD:1349851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12267671 STARD9 StAR related lipid transfer domain containing 9 gene DOID:9008086 Developmental Disabilities ISO RGD:1349851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12267671 STARD9 StAR related lipid transfer domain containing 9 gene DOID:9256 colorectal cancer ISO RGD:1349851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12267729 SLC9A3 solute carrier family 9 member A3 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:730978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 12267729 SLC9A3 solute carrier family 9 member A3 gene DOID:0060041 autism spectrum disorder ISO RGD:730978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:28492532|PMID:30504930 12267729 SLC9A3 solute carrier family 9 member A3 gene DOID:0060777 congenital secretory sodium diarrhea 8 ISO RGD:730978 D RGD:7240710 20190315 OMIM 12267729 SLC9A3 solute carrier family 9 member A3 gene DOID:0060777 congenital secretory sodium diarrhea 8 ISO RGD:730978 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Congenital secretory sodium diarrhea 8 PMID:25741868|PMID:26358773|PMID:28492532|PMID:30633106|PMID:31276831|PMID:3880821 12267729 SLC9A3 solute carrier family 9 member A3 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:730978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 12267729 SLC9A3 solute carrier family 9 member A3 gene DOID:10763 hypertension ISO RGD:3720 D RGD:9068941 20200609 RGD PMID:11880335|PMID:12372791|REF_RGD_ID:727447|REF_RGD_ID:737665 12267729 SLC9A3 solute carrier family 9 member A3 gene DOID:13250 diarrhea ISO RGD:730978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26564064 12267729 SLC9A3 solute carrier family 9 member A3 gene DOID:1485 cystic fibrosis ISO RGD:730978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22466613 12267729 SLC9A3 solute carrier family 9 member A3 gene DOID:1591 renovascular hypertension treatment ISO RGD:3720 D RGD:9068941 20200609 RGD PMID:12218313|REF_RGD_ID:727424 12267729 SLC9A3 solute carrier family 9 member A3 gene DOID:5419 schizophrenia ISO RGD:730978 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12267729 SLC9A3 solute carrier family 9 member A3 gene DOID:630 genetic disease ISO RGD:730978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12267729 SLC9A3 solute carrier family 9 member A3 gene DOID:8437 intestinal obstruction ISO RGD:730978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22466613 12267729 SLC9A3 solute carrier family 9 member A3 gene DOID:9000197 Edema ISO RGD:730978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20553904 12267729 SLC9A3 solute carrier family 9 member A3 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:730978 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 12267729 SLC9A3 solute carrier family 9 member A3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3720 D RGD:9068941 20200609 RGD protein:increased activity:kidney cortex PMID:16244498|REF_RGD_ID:1625673 12267729 SLC9A3 solute carrier family 9 member A3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20003708 12267729 SLC9A3 solute carrier family 9 member A3 gene DOID:9006024 Hypotension ISO RGD:730978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26564064 12267729 SLC9A3 solute carrier family 9 member A3 gene DOID:9970 obesity ISO RGD:3720 D RGD:9068941 20200609 RGD protein:decreased expression:kidney cortex PMID:16757903|REF_RGD_ID:1625672 12267743 ARRDC3 arrestin domain containing 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348140 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12267743 ARRDC3 arrestin domain containing 3 gene DOID:630 genetic disease ISO RGD:1348140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267743 ARRDC3 arrestin domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12267743 ARRDC3 arrestin domain containing 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348140 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12267743 ARRDC3 arrestin domain containing 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1348140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25038754 12267755 HYAL3 hyaluronidase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12267755 HYAL3 hyaluronidase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12267755 HYAL3 hyaluronidase 3 gene DOID:630 genetic disease ISO RGD:1344724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267755 HYAL3 hyaluronidase 3 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1344724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12267755 HYAL3 hyaluronidase 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1344724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12267764 PRKG1 protein kinase cGMP-dependent 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1322442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12267764 PRKG1 protein kinase cGMP-dependent 1 gene DOID:10763 hypertension ISO RGD:1587390 D RGD:9068941 20200609 RGD mRNA, protein:splice variant, alternative form:basilar artery PMID:14512447|REF_RGD_ID:7775067 12267764 PRKG1 protein kinase cGMP-dependent 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322442 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16646045|PMID:23910461|PMID:25741868|PMID:27442293|PMID:27879251|PMID:28166811|PMID:28492532|PMID:29510914|PMID:29907982 12267764 PRKG1 protein kinase cGMP-dependent 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16646045|PMID:17576681|PMID:23910461|PMID:25741868|PMID:27442293|PMID:27879251|PMID:28492532|PMID:29510914|PMID:29907982|PMID:9536098 12267764 PRKG1 protein kinase cGMP-dependent 1 gene DOID:1875 impotence ISO RGD:1587390 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:penis erectile tissue PMID:17355372|REF_RGD_ID:7775062 12267764 PRKG1 protein kinase cGMP-dependent 1 gene DOID:1924 hypogonadism ISO RGD:1587390 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:Leydig cell PMID:20463352|REF_RGD_ID:7775065 12267764 PRKG1 protein kinase cGMP-dependent 1 gene DOID:4481 allergic rhinitis ISO RGD:1587390 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium PMID:24012634|REF_RGD_ID:7775060 12267764 PRKG1 protein kinase cGMP-dependent 1 gene DOID:5419 schizophrenia ISO RGD:1322442 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12267764 PRKG1 protein kinase cGMP-dependent 1 gene DOID:630 genetic disease ISO RGD:1322442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12267764 PRKG1 protein kinase cGMP-dependent 1 gene DOID:6432 pulmonary hypertension ISO RGD:1322442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21351102 12267764 PRKG1 protein kinase cGMP-dependent 1 gene DOID:65 connective tissue disease ISO RGD:1322442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 12267764 PRKG1 protein kinase cGMP-dependent 1 gene DOID:670 amphetamine abuse ISO RGD:1322442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12267764 PRKG1 protein kinase cGMP-dependent 1 gene DOID:8541 Sezary's disease ISO RGD:1322442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 12267764 PRKG1 protein kinase cGMP-dependent 1 gene DOID:9000641 Pain ISO RGD:1587390 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:12384231|REF_RGD_ID:7775057 12267764 PRKG1 protein kinase cGMP-dependent 1 gene DOID:9002211 Hyperalgesia treatment ISO RGD:1617610 D RGD:9068941 20200609 RGD PMID:14973199|REF_RGD_ID:7775058 12267764 PRKG1 protein kinase cGMP-dependent 1 gene DOID:9003536 Familial Thoracic Aortic Aneurysm 8 ISO RGD:1322442 D RGD:7240710 20180130 OMIM 12267764 PRKG1 protein kinase cGMP-dependent 1 gene DOID:9003536 Familial Thoracic Aortic Aneurysm 8 ISO RGD:1322442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 PMID:16199547|PMID:16646045|PMID:17576681|PMID:23910461|PMID:25640679|PMID:25741868|PMID:27442293|PMID:27879251|PMID:28492532|PMID:29510914|PMID:29907982|PMID:9536098 12267764 PRKG1 protein kinase cGMP-dependent 1 gene DOID:9004538 Hearing Loss ISO RGD:1617610 D RGD:9068941 20200609 RGD PMID:22270721|REF_RGD_ID:7775056 12267764 PRKG1 protein kinase cGMP-dependent 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1587390 D RGD:9068941 20200609 RGD PMID:20186099|REF_RGD_ID:7775064 12267764 PRKG1 protein kinase cGMP-dependent 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1587390 D RGD:9068941 20200609 RGD protein:decreased expression:aorta PMID:15939056|REF_RGD_ID:7777110 12267764 PRKG1 protein kinase cGMP-dependent 1 gene DOID:9005968 Neuralgia ISO RGD:1322442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30152261 12267764 PRKG1 protein kinase cGMP-dependent 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:1587390 D RGD:9068941 20200609 RGD PMID:18332860|PMID:19845676|REF_RGD_ID:7777120|REF_RGD_ID:7777130 12267764 PRKG1 protein kinase cGMP-dependent 1 gene DOID:9970 obesity ISO RGD:1587390 D RGD:9068941 20200609 RGD protein:increased expression:kidney, glomerulus PMID:23454089|REF_RGD_ID:7777114 12267786 SP8 Sp8 transcription factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12267786 SP8 Sp8 transcription factor gene DOID:630 genetic disease ISO RGD:1316919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1344540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:0050486 exanthem ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16096327 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:12184521|REF_RGD_ID:10450573 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:0050854 Muckle-Wells syndrome ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:22146561|REF_RGD_ID:6906895 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:0060496 respiratory allergy ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:12663678|REF_RGD_ID:4143222 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:15258192|REF_RGD_ID:8549793 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:0080162 lupus nephritis resistance ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic; protein:increased expression:serum (human) PMID:20538031|REF_RGD_ID:6907068 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:0080178 mucositis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20844880 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1344540 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with morbid obesity, protein:increased expression:serum (human) PMID:22027586|REF_RGD_ID:14401582 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:0080474 pustular psoriasis 14 ISO RGD:1344540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized pustular psoriasis PMID:19494218|PMID:21792839|PMID:22940634|PMID:23698098|PMID:26100510|PMID:28492532 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:0080600 COVID-19 ISO RGD:1344540 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*1 (human) PMID:17258699|REF_RGD_ID:6907128 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:7736749|REF_RGD_ID:8551826 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:0081120 Graves ophthalmopathy severity ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:12186498|REF_RGD_ID:7387296 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:0081120 Graves ophthalmopathy susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:snp:exon:11100 C>T (rs315952) (human) PMID:19702713|REF_RGD_ID:8549808 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:0081267 graft-versus-host disease ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:8049450|REF_RGD_ID:6909143 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:10126 keratoconus susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:snp:intron:c.214+242C>T (human) PMID:23462747|REF_RGD_ID:8549797 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:10140 dry eye syndrome ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:tears (human) PMID:20508732|REF_RGD_ID:8551707 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:10247 pleurisy ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:8491511|REF_RGD_ID:4143233 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:10325 silicosis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:11264025|REF_RGD_ID:4142816 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:10325 silicosis treatment ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:23842733|REF_RGD_ID:8551847 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:10327 anthracosis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20005085 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:10459 common cold ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:18279051|REF_RGD_ID:4143207 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:10459 common cold ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus PMID:10358201|REF_RGD_ID:4143183 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:10533 viral pneumonia ISO RGD:1344540 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:10534 stomach cancer ISO RGD:1344540 D RGD:7240710 20220209 OMIM 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:10591 pre-eclampsia ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21126355|REF_RGD_ID:6906962 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:106 pleural tuberculosis ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeat (human) PMID:10377182|REF_RGD_ID:4143226 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:10763 hypertension ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:11585563|REF_RGD_ID:1626668 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:10763 hypertension susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:11840488|REF_RGD_ID:1626667 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:19489682|REF_RGD_ID:6907081 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup multiple (human) PMID:16698387|REF_RGD_ID:6907367 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:9186886|REF_RGD_ID:6909151 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:11204 allergic conjunctivitis treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:10549671|REF_RGD_ID:8549802 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:11382 corneal neovascularization treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in mouse model PMID:10359324|REF_RGD_ID:8549790 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:11382 corneal neovascularization treatment ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:12202509|REF_RGD_ID:8549796 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:11394 adult respiratory distress syndrome ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:8810593|REF_RGD_ID:4143190 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:11394 adult respiratory distress syndrome ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:22810359|REF_RGD_ID:6909177 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:11394 adult respiratory distress syndrome disease_progression ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:8686976|REF_RGD_ID:4143191 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:11400 pyelonephritis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:urine (human) PMID:8640042|REF_RGD_ID:6907372 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:11446 sciatic neuropathy ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:12574433|REF_RGD_ID:7175064 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:11476 osteoporosis treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a rat model PMID:8182127|REF_RGD_ID:8551834 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:11573 listeriosis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:8855299|REF_RGD_ID:11522760 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:11650 bronchopulmonary dysplasia ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15539764|REF_RGD_ID:4143172 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Premature Birth;DNA:polymorphism:: PMID:22882323|REF_RGD_ID:12910846 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:11656 cicatricial pemphigoid ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:11448121|REF_RGD_ID:8549794 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:11713 diabetic angiopathy ISO RGD:1344540 D RGD:7240710 20180130 OMIM 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:11713 diabetic angiopathy ISO RGD:1344540 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 4 PMID:25741868|PMID:28492532 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:1184 nephrotic syndrome ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*1, IL1RN*2 (human) PMID:14758530|REF_RGD_ID:6907374 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:11981 morbid obesity ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11889184|REF_RGD_ID:1626666 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:12373296|REF_RGD_ID:6909171 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased concentration:serum (human) PMID:9802632|REF_RGD_ID:6909134 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:12849 autistic disorder ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11803234 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:1287 cardiovascular system disease ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29114965 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:12894 Sjogren's syndrome ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:9646842|REF_RGD_ID:8549786 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:12894 Sjogren's syndrome ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:conjunctiva (human) PMID:11527941|REF_RGD_ID:8549807 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:13139 crescentic glomerulonephritis treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a rat model PMID:7637259|REF_RGD_ID:8551712 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:13189 gout ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18403674 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:13241 Behcet's disease ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14600787|REF_RGD_ID:7401213 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:13250 diarrhea ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20844880 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:13406 pulmonary sarcoidosis ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:8239179|REF_RGD_ID:4143198 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:1407 anterior uveitis ISO RGD:1344540 D RGD:9068941 20200609 RGD human gene in rabbit model PMID:19693263|REF_RGD_ID:8551704 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:14115 toxic shock syndrome susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphism:: PMID:23014359|REF_RGD_ID:11522756 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:14115 toxic shock syndrome treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:15516267|REF_RGD_ID:8551736 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:14654 prostatitis ISO RGD:733437 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland (mouse) PMID:21681776|REF_RGD_ID:6906929 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:1485 cystic fibrosis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:decreased expression:blood, neutrophil PMID:12547728|REF_RGD_ID:4143175 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:1485 cystic fibrosis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:10515411|REF_RGD_ID:4143181 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:1532 pleural disease ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage PMID:8325116|REF_RGD_ID:4143201 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:1596 depressive disorder ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Status Epilepticus; rat model treated with human protein PMID:22427156|REF_RGD_ID:7174694 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:178 vascular disease ISO RGD:1344540 D RGD:9068941 20200609 RGD mouse model treated with human protein; associated with Diabetes Mellitus, Type 2 PMID:22081301|REF_RGD_ID:6906924 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:1824 status epilepticus ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19010416 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:1909 melanoma ISO RGD:1344540 D RGD:9068941 20200609 RGD mouse model treated with human protein PMID:8168095|REF_RGD_ID:6909140 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:224 transient cerebral ischemia ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a rat model PMID:20412072|REF_RGD_ID:8551852 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:224 transient cerebral ischemia ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:15837124|REF_RGD_ID:1626674 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:2316 brain ischemia ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9236716 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:2377 multiple sclerosis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25458313 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:2799 bronchiolitis obliterans ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11889437|REF_RGD_ID:4143176 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:2841 asthma ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9176529 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:2841 asthma ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:16724092|PMID:18763028|REF_RGD_ID:4142802|REF_RGD_ID:4143209 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:2841 asthma ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA, protein:repeat, decreased expression (human) PMID:11027520|REF_RGD_ID:4143224 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:2841 asthma severity ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:10843772|REF_RGD_ID:4143225 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:2841 asthma susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:SNP: :rs2234678 (human) PMID:17107994|REF_RGD_ID:4143208 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:2841 asthma susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:15020290|REF_RGD_ID:4143216 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:2841 asthma susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:SNPs: :rs447713, rs3087271 (human) PMID:16409203|REF_RGD_ID:4143163 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:2841 asthma susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:18926055|REF_RGD_ID:4142864 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:285 hairy cell leukemia treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:9613675|REF_RGD_ID:11522762 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:289 endometriosis ISO RGD:1344540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometriosis 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:2921 glomerulonephritis ISO RGD:1344540 D RGD:9068941 20200609 RGD mouse model treated with human protein PMID:22241891|REF_RGD_ID:6906885 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:2921 glomerulonephritis ISO RGD:733437 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (mouse) PMID:21304992|REF_RGD_ID:6906960 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1344540 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:12837270|PMID:16519819|PMID:19729864|PMID:20842532|PMID:21279638|PMID:22032624|PMID:24033266|PMID:24863340|PMID:25501066|PMID:25741868|PMID:28236224|PMID:28492532 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:2942 bronchiolitis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:8608647|REF_RGD_ID:4143192 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:2957 pulmonary tuberculosis ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:14619382|REF_RGD_ID:4143174 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:2957 pulmonary tuberculosis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:lung, serum PMID:10543265|REF_RGD_ID:4143180 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:2957 pulmonary tuberculosis severity ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:10631206|REF_RGD_ID:4143179 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:2986 IgA glomerulonephritis ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:10916103|REF_RGD_ID:6906961 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:2986 IgA glomerulonephritis ISO RGD:1344540 D RGD:9068941 20200609 RGD mouse model treated with human protein PMID:9370186|REF_RGD_ID:6909150 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:2986 IgA glomerulonephritis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:decreased expression:serum, urine (human) PMID:16209246|REF_RGD_ID:6907414 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:2986 IgA glomerulonephritis ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:10079261|REF_RGD_ID:6909131 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:2986 IgA glomerulonephritis ISO RGD:1344540 D RGD:9068941 20200609 RGD response to immunoglobulin therapy PMID:9844059|REF_RGD_ID:6909132 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:2986 IgA glomerulonephritis ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:10566895|REF_RGD_ID:6907427 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:2986 IgA glomerulonephritis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphisms:intron, 3' utr:IVS1+1890G>T, IVS1+8796A>G, *138C>G (rs928940, rs439154, rs315951) (human) PMID:19280228|REF_RGD_ID:6907082 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:3021 acute kidney failure ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Asphyxia; rat model treated with human protein PMID:16259926|REF_RGD_ID:6907369 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:3021 acute kidney failure ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Sepsis PMID:16763508|REF_RGD_ID:6907360 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:3021 acute kidney failure ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:14610321|REF_RGD_ID:6907375 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:3082 interstitial lung disease ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;protein:increased expression:plasma PMID:20404807|REF_RGD_ID:4142853 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:3082 interstitial lung disease ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage PMID:8342915|REF_RGD_ID:4143199 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19291375|REF_RGD_ID:4142861 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:18364273|REF_RGD_ID:4142868 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:18579366|REF_RGD_ID:4142866 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human gene in a rat model PMID:7790404|REF_RGD_ID:8551708 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:37 skin disease ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338|PMID:7706905 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:3770 pulmonary fibrosis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18403674 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:3770 pulmonary fibrosis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:7767546|REF_RGD_ID:4143194 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:3770 pulmonary fibrosis disease_progression ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:17056243|REF_RGD_ID:4142874 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:3770 pulmonary fibrosis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:10934117|REF_RGD_ID:4143177 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:3904 bronchus carcinoma ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression, alternative forms:lung PMID:8030748|REF_RGD_ID:4143231 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:16126303|REF_RGD_ID:4143167 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:4195 hyperglycemia ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1; protein:decreased expression:urine (human) PMID:12679866|REF_RGD_ID:6907426 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:4371 Schnitzler syndrome ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16096327 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:4371 Schnitzler syndrome susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:16096327|REF_RGD_ID:11522758 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:4450 renal cell carcinoma ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:17031403|REF_RGD_ID:6907413 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:4483 rhinitis ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:15178892|REF_RGD_ID:4143215 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:4483 rhinitis ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Hypersensitivity PMID:10224452|REF_RGD_ID:4143227 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:4483 rhinitis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Hypersensitivity;DNA:repeat:intron (human) PMID:14533660|REF_RGD_ID:4142859 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:20071465|REF_RGD_ID:4145614 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:5199 ureteral obstruction ISO RGD:1344540 D RGD:9068941 20200609 RGD mouse model treated with human protein PMID:21975862|REF_RGD_ID:6906925 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:5199 ureteral obstruction ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:11123344|REF_RGD_ID:6909121 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:552 pneumonia ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:16369129|REF_RGD_ID:4143213 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:552 pneumonia ISO RGD:1344540 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:552 pneumonia ISO RGD:621159 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchioalveolar lavage fluid, neutrophil (rat) PMID:1385928|REF_RGD_ID:8551846 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:552 pneumonia ISO RGD:733437 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17569781|REF_RGD_ID:4142871 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:552 pneumonia disease_progression ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:18838927|REF_RGD_ID:4142865 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:552 pneumonia no_association ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:19900796|REF_RGD_ID:4143204 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:557 kidney disease ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9370186 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:576 proteinuria ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9370186 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:576 proteinuria ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Glomerulonephritis, IGA; DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:12138282|REF_RGD_ID:6909118 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:5844 myocardial infarction ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18474815|PMID:19005744 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:630 genetic disease ISO RGD:1344540 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:631 fibromyalgia severity ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:10341365|REF_RGD_ID:8549787 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:633 myositis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10886238 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:633 myositis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle (human) PMID:18251582|REF_RGD_ID:8549795 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:6432 pulmonary hypertension ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:7946395|REF_RGD_ID:4143197 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:6713 cerebrovascular disease ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29114965 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:684 hepatocellular carcinoma ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:7148 rheumatoid arthritis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19192274|PMID:7706905 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:7148 rheumatoid arthritis ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:19447938|REF_RGD_ID:7174696 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:7148 rheumatoid arthritis ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:10637275|REF_RGD_ID:8549810 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:783 end stage renal disease ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:g.14709C>T rs315952 (human) PMID:12837270|REF_RGD_ID:6907105 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:783 end stage renal disease ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:IVS6+327A>G rs452204 (human) PMID:20551628|REF_RGD_ID:6907070 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:783 end stage renal disease ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:16556139|REF_RGD_ID:6907368 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:783 end stage renal disease disease_progression ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:17224277|REF_RGD_ID:6907131 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:783 end stage renal disease susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*1 (human) PMID:16766392|REF_RGD_ID:6907370 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:784 chronic kidney disease ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:23024164|REF_RGD_ID:6906880 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:784 chronic kidney disease susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*1 (human) PMID:22795294|REF_RGD_ID:6906881 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:824 periodontitis ISO RGD:1344540 D RGD:9068941 20200609 RGD mRNA:increased expression:gingiva PMID:22795294|REF_RGD_ID:6906881 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:824 periodontitis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic;DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:22795294|REF_RGD_ID:6906881 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:8552 chronic myeloid leukemia severity ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:7949186|REF_RGD_ID:10450889 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:8577 ulcerative colitis ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:8119534|REF_RGD_ID:6909136 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:874 bacterial pneumonia ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:18322242|PMID:18596024|REF_RGD_ID:4143205|REF_RGD_ID:4143206 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:8924 autoimmune thrombocytopenic purpura susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:: PMID:20626741|REF_RGD_ID:11528541 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:8927 learning disability ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25665855 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:8927 learning disability ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:10751560|REF_RGD_ID:7175060 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:decreased expression:urine (human) PMID:9090470|REF_RGD_ID:6909172 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9000039 Spinal Cord Injuries ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:17964877|REF_RGD_ID:6907102 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9000039 Spinal Cord Injuries ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:16038625|REF_RGD_ID:1626673 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9000099 Experimental Colitis treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a rat model PMID:8978354|REF_RGD_ID:8551835 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9000217 Stomach Neoplasms ISO RGD:1344540 D RGD:9068941 20220217 CTD CTD Direct Evidence: marker/mechanism 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9000325 Abscess severity ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a rat model PMID:8872492|REF_RGD_ID:8551794 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:22679224|REF_RGD_ID:7051590 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9000641 Pain ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15317861 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14754758 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:14754758|REF_RGD_ID:4143217 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9000784 Fibrosis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7637259 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:621159 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:22782699|REF_RGD_ID:6909178 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9000972 Fever ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16096327 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9000972 Fever ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:16455768|REF_RGD_ID:1626671 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9000998 Brain Injuries ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25665855 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9001020 Eye Manifestations ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;protein:increased expression:serum (human) PMID:9152064|REF_RGD_ID:8549789 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9001039 Leukocytosis ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Meningitis, Listeria; PMID:10085034|REF_RGD_ID:11522759 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9001109 Anorexia ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25392278 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9001109 Anorexia ISO RGD:621159 D RGD:9068941 20200609 RGD associated with Adenocarcinoma;mRNA:increased expression:cerebral cortex, hypothalamus (rat) PMID:9688694|REF_RGD_ID:8551744 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9001142 Drug-Induced Agranulocytosis ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Leukemia;protein:decreased expression:serum: PMID:8698137|REF_RGD_ID:11528539 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9001164 Proctocolitis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased concentration:serum (human) PMID:9802632|REF_RGD_ID:6909134 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9001310 Tobacco Use Disorder treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Graves Ophthalmopathy PMID:10792346|REF_RGD_ID:8549806 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9001462 Meibomian Gland Dysfunction ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:tears (human) PMID:20508732|REF_RGD_ID:8551707 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9001488 Human Influenza ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:9439800|REF_RGD_ID:4143228 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9001488 Human Influenza disease_progression ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20840779|REF_RGD_ID:4143203 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9001831 Lichen Sclerosus et Atrophicus severity ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:7927338|REF_RGD_ID:6909135 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9002159 Liver Reperfusion Injury ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:9000676|REF_RGD_ID:6909138 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:12451245|REF_RGD_ID:8551710 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:17286233|REF_RGD_ID:6909120 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:16174285|REF_RGD_ID:6907371 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9002211 Hyperalgesia ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15317861|PMID:17174526|PMID:20937348|PMID:8864563 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9002211 Hyperalgesia ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental; rat model treated with human protein PMID:22933159|REF_RGD_ID:6909175 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9002211 Hyperalgesia ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:23092240|REF_RGD_ID:6909165 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9002211 Hyperalgesia severity ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:10903985|REF_RGD_ID:8549800 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9002211 Hyperalgesia treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:17959986|REF_RGD_ID:7401210 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:10870116|REF_RGD_ID:11522755 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16106254|PMID:16284379 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:733437 D RGD:9068941 20200609 RGD mouse gene in a rat model PMID:15795329|REF_RGD_ID:8551728 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9002457 Experimental Arthritis ISO RGD:1344540 D RGD:9068941 20200609 RGD mouse model treated with human protein PMID:23006786|REF_RGD_ID:6907376 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9002457 Experimental Arthritis ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:15270736|REF_RGD_ID:1626677 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9002457 Experimental Arthritis ISO RGD:621159 D RGD:9068941 20200609 RGD mRNA:increased expression:popliteal lymph node (rat) PMID:10921508|REF_RGD_ID:8551741 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9002457 Experimental Arthritis ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:22267332|REF_RGD_ID:8549801 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human gene in a rat model PMID:12727108|REF_RGD_ID:8551745 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9002676 Cerebral Hemorrhage ISO RGD:621159 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum (rat) PMID:22707991|REF_RGD_ID:6997504 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human gene in a rat model PMID:14753487|REF_RGD_ID:8551833 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a rat model PMID:7593560|REF_RGD_ID:8551836 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9002847 Serositis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic; DNA:repeats, haplotype:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:17596285|REF_RGD_ID:5508454 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9002906 Multiple Organ Failure ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:19241361|REF_RGD_ID:6907089 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9002906 Multiple Organ Failure ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Wounds and Injuries;protein:increased expression:plasma PMID:10670873|REF_RGD_ID:4143178 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9002928 Colonic Neoplasms ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18987561 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9003223 Corneal Graft Rejection ISO RGD:1344540 D RGD:9068941 20200609 RGD human gene in a rat model PMID:23723965|REF_RGD_ID:9684950 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9003311 Urinary Calculi susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats, haplotype:intron:IVS2+914_1000dup IL1RN*1, IL1RN*2 IL1RN*3 (human) PMID:18186699|REF_RGD_ID:6907399 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:haplotype::rs2232354(human) PMID:17413037|REF_RGD_ID:11528540 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9004283 Transplant Rejection treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD cornea transplant; human protein in a mouse model PMID:9175817|REF_RGD_ID:8549799 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9004462 Atrophy ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7637259 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9004484 Sepsis ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:8196140|REF_RGD_ID:6909139 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9004484 Sepsis ISO RGD:621159 D RGD:9068941 20200609 RGD mRNA:increased expression:pituitary gland (rat) PMID:10048466|REF_RGD_ID:7175061 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9004484 Sepsis ISO RGD:733437 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:20454520|REF_RGD_ID:4142852 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9004484 Sepsis disease_progression ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats: : PMID:11876758|REF_RGD_ID:11528543 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9004484 Sepsis severity ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:17014550|REF_RGD_ID:6907358 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9004484 Sepsis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Premature Birth;DNA:polymorphism:: PMID:22882323|REF_RGD_ID:12910846 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27567548 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9004590 Acute Liver Failure ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20644519 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9004590 Acute Liver Failure ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human gene-expressing stem cells PMID:22844472|REF_RGD_ID:6909176 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9004610 Acute Lung Injury ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:8613550|REF_RGD_ID:4143193 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9004610 Acute Lung Injury ISO RGD:621159 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15970097|REF_RGD_ID:4143168 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9004960 Chronic Anterior Uveitis severity ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:snp:exon:g.2018T>C (human) PMID:17005410|REF_RGD_ID:8549792 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:21890879|REF_RGD_ID:6771361 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9005372 Inflammation ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25665855 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9005372 Inflammation ISO RGD:621159 D RGD:9068941 20200609 RGD associated with Hypersensitivity, Delayed;protein:increased expression:brain, plasma PMID:15050649|REF_RGD_ID:1626679 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1344540 D RGD:9068941 20200609 RGD human gene in a rat model PMID:17221214|REF_RGD_ID:8551855 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:19545727|PMID:8037760|REF_RGD_ID:6907397|REF_RGD_ID:6907425 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in mouse model PMID:16009838|REF_RGD_ID:8549788 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9005749 Necrosis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1838896|PMID:20644519 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9005930 Endotoxemia ISO RGD:621159 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, spleen, liver (rat) PMID:1385928|REF_RGD_ID:8551846 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9005930 Endotoxemia treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:8855299|REF_RGD_ID:11522760 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9006182 Carotid Artery Injuries ISO RGD:1344540 D RGD:9068941 20200609 RGD human gene in rat model PMID:12754378|REF_RGD_ID:2316108 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1344540 D RGD:9068941 20200609 RGD mouse model treated with human protein PMID:9555664|REF_RGD_ID:6909149 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:18363573|REF_RGD_ID:6907101 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:16849996|REF_RGD_ID:6907359 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9006358 Postoperative Cognitive Dysfunction treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a rat model PMID:23077050|REF_RGD_ID:8551854 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9006771 Chronic Rhinosinusitis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup I/II alleles (human) PMID:16549749|REF_RGD_ID:8549791 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1344540 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9006890 Chronic Uveitis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor (human) PMID:10694897|REF_RGD_ID:8549804 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:SNP: :c.390T>C (rs315952) (human) PMID:19258923|REF_RGD_ID:4142862 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:733437 D RGD:9068941 20200609 RGD mRNA:increased expression:cornea (mouse) PMID:9423885|REF_RGD_ID:8549805 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9006966 Pseudomonas Aeruginosa Keratitis treatment ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:11895986|REF_RGD_ID:7401195 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9007096 Stroke ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9007096 Stroke ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:22781338|REF_RGD_ID:6909180 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9007151 Deficiency of Interleukin-1 Receptor Antagonist ISO RGD:1344540 D RGD:7240710 20180606 OMIM 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9007151 Deficiency of Interleukin-1 Receptor Antagonist ISO RGD:1344540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis PMID:12837270|PMID:16519819|PMID:17576681|PMID:19280228|PMID:19494218|PMID:19494219|PMID:19729864|PMID:20213597|PMID:20842532|PMID:21279638|PMID:21792839|PMID:22032624|PMID:22127713|PMID:22940634|PMID:23698098|PMID:24033266|PMID:24863340|PMID:25501066|PMID:25741868|PMID:26100510|PMID:28236224|PMID:28492532|PMID:32819369|PMID:9536098 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9007346 Cachexia ISO RGD:621159 D RGD:9068941 20200609 RGD associated with Inflammation PMID:15005009|REF_RGD_ID:1626680 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9007417 Pseudomonas Infections ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:8327288|REF_RGD_ID:4143202 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs2234663 (human) PMID:23461376|REF_RGD_ID:11051970 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:22649318|REF_RGD_ID:7174360 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9007896 Sclerosis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7637259 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9007956 Febrile Seizures ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:16393156|REF_RGD_ID:1626672 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9007964 Arsenic Poisoning ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9008413 Oligoanuria ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Hemolytic-Uremic Syndrome; protein:increased expression:blood (human) PMID:10603133|REF_RGD_ID:6909130 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:16899778|REF_RGD_ID:8549803 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9008511 Extravasation of Diagnostic and Therapeutic Materials ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7706905 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9008609 Endotoxin-Induced Uveitis ISO RGD:621159 D RGD:9068941 20200609 RGD mRNA:increased expression:uvea, retina (rat) PMID:7928184|REF_RGD_ID:8551705 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9008609 Endotoxin-Induced Uveitis susceptibility ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:22267332|REF_RGD_ID:8549801 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9074 systemic lupus erythematosus ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:g.14709C>T rs315952 (human) PMID:17176440|REF_RGD_ID:6907356 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9074 systemic lupus erythematosus ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:20805419|REF_RGD_ID:6906963 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9352 type 2 diabetes mellitus disease_progression ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X; DNA:snp:intron:IVS3+102A>G rs3213448 (human) PMID:21205020|REF_RGD_ID:7175255 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:8786086|REF_RGD_ID:6907412 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2, IL1RN*3 (human) PMID:17069782|REF_RGD_ID:6907409 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9498 pulmonary eosinophilia ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:Bronchoalveolar lavage: PMID:24706315|REF_RGD_ID:11528542 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9538 multiple myeloma ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:snp: :11100C>T (human) PMID:17926179|REF_RGD_ID:11051973 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9538 multiple myeloma no_association ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron: PMID:10848780|REF_RGD_ID:11522764 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9588 encephalitis ISO RGD:621159 D RGD:9068941 20200609 RGD protein:increased expression:right hippocampus, plasma (rat) PMID:15020061|REF_RGD_ID:8551849 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9744 type 1 diabetes mellitus ISO RGD:1344540 D RGD:9068941 20200609 RGD mouse model treated with human protein PMID:9158104|REF_RGD_ID:6907407 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9744 type 1 diabetes mellitus ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9112337|REF_RGD_ID:6907403 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:986 alopecia areata severity ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:8077705|REF_RGD_ID:6909137 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9938 dacryocystitis treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:24068863|REF_RGD_ID:8551706 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9970 obesity ISO RGD:1344540 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:adipose tissue PMID:12716739|REF_RGD_ID:1626665 12267832 IL1RN interleukin 1 receptor antagonist gene DOID:9970 obesity ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:12975454|REF_RGD_ID:1626664 12267840 PAX8 paired box 8 gene DOID:0050328 congenital hypothyroidism ISO RGD:730849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:16763387|PMID:25146893|PMID:26362610 12267840 PAX8 paired box 8 gene DOID:0070124 congenital nongoitrous hypothyroidism 2 ISO RGD:730849 D RGD:7240710 20180130 OMIM 12267840 PAX8 paired box 8 gene DOID:0070124 congenital nongoitrous hypothyroidism 2 ISO RGD:730849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2 PMID:11232006|PMID:11502839|PMID:12116225|PMID:15356023|PMID:15718293|PMID:17437516|PMID:17980011|PMID:20302910|PMID:23647375|PMID:25741868|PMID:28060725|PMID:28444304|PMID:28492532|PMID:29159607|PMID:30222900|PMID:9382140|PMID:9523167|PMID:9590296 12267840 PAX8 paired box 8 gene DOID:0080600 COVID-19 ISO RGD:730849 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12267840 PAX8 paired box 8 gene DOID:630 genetic disease ISO RGD:730849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28444304|PMID:28492532|PMID:29159607|PMID:30222900 12267840 PAX8 paired box 8 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:730849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15785241 12267840 PAX8 paired box 8 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075790 12267840 PAX8 paired box 8 gene DOID:9970 obesity ISO RGD:730849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 12267851 ZCCHC10 zinc finger CCHC-type containing 10 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1317755 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12267851 ZCCHC10 zinc finger CCHC-type containing 10 gene DOID:630 genetic disease ISO RGD:1317755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267851 ZCCHC10 zinc finger CCHC-type containing 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12267851 ZCCHC10 zinc finger CCHC-type containing 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317755 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12267859 ZNF7 zinc finger protein 7 gene DOID:630 genetic disease ISO RGD:1321655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12267893 ARMH1 armadillo like helical domain containing 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12267893 ARMH1 armadillo like helical domain containing 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12267893 ARMH1 armadillo like helical domain containing 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12267910 FCHO1 FCH and mu domain containing endocytic adaptor 1 gene DOID:0050590 severe congenital neutropenia ISO RGD:1317013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe congenital neutropenia PMID:30822429|PMID:32098969 12267910 FCHO1 FCH and mu domain containing endocytic adaptor 1 gene DOID:10316 pneumoconiosis ISO RGD:1317013 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 12267910 FCHO1 FCH and mu domain containing endocytic adaptor 1 gene DOID:630 genetic disease ISO RGD:1317013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12267910 FCHO1 FCH and mu domain containing endocytic adaptor 1 gene DOID:9003039 Immunodeficiency 76 ISO RGD:1317013 D RGD:7240710 20210303 OMIM 12267910 FCHO1 FCH and mu domain containing endocytic adaptor 1 gene DOID:9003039 Immunodeficiency 76 ISO RGD:1317013 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency 76 PMID:25741868|PMID:28492532|PMID:30822429|PMID:32098969 12267946 MUC16 mucin 16, cell surface associated gene DOID:10140 dry eye syndrome ISO RGD:1346263 D RGD:9068941 20200609 RGD protein:increased expression:tear PMID:22089171|REF_RGD_ID:7349375 12267946 MUC16 mucin 16, cell surface associated gene DOID:1227 neutropenia ISO RGD:1346263 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 12267946 MUC16 mucin 16, cell surface associated gene DOID:12849 autistic disorder ISO RGD:1346263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12267946 MUC16 mucin 16, cell surface associated gene DOID:12894 Sjogren's syndrome ISO RGD:1346263 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:conjunctival epithelial cell, tear PMID:19122828|REF_RGD_ID:7364772 12267946 MUC16 mucin 16, cell surface associated gene DOID:1324 lung cancer ISO RGD:1346263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12267946 MUC16 mucin 16, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:1346263 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19377061|REF_RGD_ID:2325129 12267946 MUC16 mucin 16, cell surface associated gene DOID:2394 ovarian cancer treatment ISO RGD:1346263 D RGD:9068941 20200609 RGD PMID:18641636|REF_RGD_ID:7364774 12267946 MUC16 mucin 16, cell surface associated gene DOID:4001 ovarian carcinoma ISO RGD:1308422 D RGD:9068941 20200609 RGD PMID:20356397|REF_RGD_ID:2325203 12267946 MUC16 mucin 16, cell surface associated gene DOID:4947 cholangiocarcinoma ISO RGD:1346263 D RGD:9068941 20200609 RGD associated with Opisthorchiasis;protein:increased expression:serum PMID:1653472|REF_RGD_ID:2325142 12267946 MUC16 mucin 16, cell surface associated gene DOID:5409 lung small cell carcinoma ISO RGD:1346263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 12267946 MUC16 mucin 16, cell surface associated gene DOID:576 proteinuria ISO RGD:1346263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12169874 12267946 MUC16 mucin 16, cell surface associated gene DOID:9000011 Gallbladder Neoplasms ISO RGD:1346263 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17542293|REF_RGD_ID:2325132 12267946 MUC16 mucin 16, cell surface associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:1346263 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11706781 12267946 MUC16 mucin 16, cell surface associated gene DOID:9002936 Bile Duct Neoplasms ISO RGD:1346263 D RGD:9068941 20200609 RGD protein:increased expression:serum,bile PMID:1657243|REF_RGD_ID:2325134 12267946 MUC16 mucin 16, cell surface associated gene DOID:9005172 Lung Neoplasms ISO RGD:1346263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29552305 12267946 MUC16 mucin 16, cell surface associated gene DOID:9368 keratoconjunctivitis ISO RGD:1346263 D RGD:9068941 20200609 RGD mRNA:increased expression:conjunctival epithelial cell PMID:18782111|REF_RGD_ID:7364735 12267999 FAR1 fatty acyl-CoA reductase 1 gene DOID:0081243 rhizomelic chondrodysplasia punctate type 4 ISO RGD:1315381 D RGD:7240710 20200603 OMIM 12267999 FAR1 fatty acyl-CoA reductase 1 gene DOID:0081243 rhizomelic chondrodysplasia punctate type 4 ISO RGD:1315381 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: Peroxisomal fatty acyl-coa reductase 1 disorder PMID:25439727|PMID:25741868|PMID:28492532 12267999 FAR1 fatty acyl-CoA reductase 1 gene DOID:1059 intellectual disability ISO RGD:1315381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12267999 FAR1 fatty acyl-CoA reductase 1 gene DOID:630 genetic disease ISO RGD:1315381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12267999 FAR1 fatty acyl-CoA reductase 1 gene DOID:9006244 CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY ISO RGD:1315381 D RGD:7240710 20210616 OMIM 12267999 FAR1 fatty acyl-CoA reductase 1 gene DOID:9006244 CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY ISO RGD:1315381 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY | ClinVar Annotator: match by term: FAR1-related neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:33239752 12268016 SPON1 spondin 1 gene DOID:0080600 COVID-19 ISO RGD:1343453 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12268016 SPON1 spondin 1 gene DOID:1059 intellectual disability ISO RGD:1343453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12268016 SPON1 spondin 1 gene DOID:630 genetic disease ISO RGD:1343453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:0050645 arterial tortuosity syndrome ISO RGD:1348351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arterial tortuosity PMID:25741868 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:0050827 rheumatic heart disease ISO RGD:621676 D RGD:9068941 20230202 RGD mRNA, protein:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1348351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:18456716|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9467011 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1616012 D RGD:9068941 20210702 RGD mRNA:increased expression:liver (mouse) PMID:28100771|REF_RGD_ID:127285675 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:0080685 aortic dissection ISO RGD:1348351 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Descending aortic dissection PMID:25741868 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:0080685 aortic dissection ameliorates ISO RGD:1616012 D RGD:9068941 20230223 RGD Apolipoprotein E knockout PMID:33403385|REF_RGD_ID:156420156 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:11664 nephrosclerosis ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:13099 Moyamoya disease ISO RGD:1348351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Moyamoya disease | ClinVar Annotator: match by term: Moyamoya syndrome PMID:25741868|PMID:28492532 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20493835 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:13619 extrahepatic cholestasis ISO RGD:1348351 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:28789951|PMID:31932644 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10532176|PMID:13129918|PMID:15138499|PMID:15472996|PMID:17576681|PMID:17994018|PMID:19409525|PMID:19639654|PMID:20689142|PMID:20734336|PMID:20970362|PMID:21212136|PMID:21248741|PMID:21288906|PMID:21733706|PMID:21937134|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24020716|PMID:24033266|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24793577|PMID:24998021|PMID:25326635|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26188975|PMID:26637293|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27611364|PMID:28492532|PMID:28659821|PMID:28855619|PMID:29300374|PMID:29687370|PMID:29907982|PMID:9536098 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348351 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10532176|PMID:13129918|PMID:15138499|PMID:15472996|PMID:17576681|PMID:17994018|PMID:19409525|PMID:19639654|PMID:20689142|PMID:20734336|PMID:20970362|PMID:21212136|PMID:21248741|PMID:21288906|PMID:21733706|PMID:21937134|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24020716|PMID:24033266|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24793577|PMID:24998021|PMID:25326635|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26188975|PMID:26637293|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27611364|PMID:28074886|PMID:28492532|PMID:28659821|PMID:28855619|PMID:29300374|PMID:29687370|PMID:29907982|PMID:9536098 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348351 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10532176|PMID:13129918|PMID:15138499|PMID:15472996|PMID:17576681|PMID:17994018|PMID:19409525|PMID:19639654|PMID:20734336|PMID:20970362|PMID:21212136|PMID:21248741|PMID:21288906|PMID:21733706|PMID:21937134|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24020716|PMID:24033266|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24998021|PMID:25326635|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26188975|PMID:26637293|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27611364|PMID:28074886|PMID:28166811|PMID:28492532|PMID:28652363|PMID:28659821|PMID:28855619|PMID:29300374|PMID:29687370|PMID:29907982|PMID:31911919|PMID:9536098 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348351 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10532176|PMID:13129918|PMID:15138499|PMID:15472996|PMID:17576681|PMID:17994018|PMID:19409525|PMID:19639654|PMID:20734336|PMID:20970362|PMID:21212136|PMID:21248741|PMID:21288906|PMID:21733706|PMID:21937134|PMID:22001912|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23041370|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24020716|PMID:24033266|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24793577|PMID:24998021|PMID:25326635|PMID:25504618|PMID:25557781|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26188975|PMID:26637293|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27611364|PMID:27879251|PMID:28074886|PMID:28166811|PMID:28492532|PMID:28652363|PMID:28659821|PMID:28848449|PMID:28855619|PMID:29300374|PMID:29687370|PMID:29867215|PMID:29907982|PMID:30341550|PMID:31911919|PMID:36053285|PMID:9536098 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10532176|PMID:13129918|PMID:14730227|PMID:15138499|PMID:15472996|PMID:17576681|PMID:17994018|PMID:19409525|PMID:19639654|PMID:20734336|PMID:20970362|PMID:21212136|PMID:21248741|PMID:21288906|PMID:21733706|PMID:21937134|PMID:22001912|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23041370|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24020716|PMID:24033266|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24793577|PMID:24998021|PMID:25326635|PMID:25504618|PMID:25557781|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26188975|PMID:26637293|PMID:27146836|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27611364|PMID:27879251|PMID:28074886|PMID:28492532|PMID:28652363|PMID:28659821|PMID:28848449|PMID:28855619|PMID:29202781|PMID:29300374|PMID:29543232|PMID:29687370|PMID:29867215|PMID:29907982|PMID:30341550|PMID:31911919|PMID:32093627|PMID:34422331|PMID:36053285|PMID:9536098 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:289 endometriosis ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:326 ischemia ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19458120 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:3770 pulmonary fibrosis ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30639579 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:409 liver disease ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11738102 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:418 systemic scleroderma ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24706986 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:4977 lymphedema ISO RGD:1348351 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue: PMID:21510802|REF_RGD_ID:12879442 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:5082 liver cirrhosis ISO RGD:1348351 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:24239723|PMID:24321339|PMID:30097701|PMID:32659284 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:5199 ureteral obstruction ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:520 aortic disease ISO RGD:1348351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:19409525|PMID:20734336|PMID:21212136|PMID:21248741|PMID:21733706|PMID:21937134|PMID:22752479|PMID:22946110|PMID:23613326|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24998021|PMID:25644172|PMID:25741868|PMID:25759435|PMID:26034244|PMID:26153420|PMID:27481187|PMID:27567161|PMID:27611364|PMID:28492532|PMID:29300374|PMID:29907982 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:557 kidney disease ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19913069|PMID:31697999 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:5844 myocardial infarction ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:630 genetic disease ISO RGD:1348351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:65 connective tissue disease ISO RGD:1348351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:10532176|PMID:13129918|PMID:14730227|PMID:15138499|PMID:15472996|PMID:19409525|PMID:20734336|PMID:20970362|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23253043|PMID:23613326|PMID:24033266|PMID:24293535|PMID:24621862|PMID:24998021|PMID:25326635|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26637293|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:28492532|PMID:28652363|PMID:29300374|PMID:31911919 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1348351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:16199547|PMID:22237435|PMID:28492532 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:9000784 Fibrosis ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:9001444 Moyamoya Disease 5 ISO RGD:1348351 D RGD:7240710 20180130 OMIM 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:9001444 Moyamoya Disease 5 ISO RGD:1348351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Moyamoya disease 5 PMID:10532176|PMID:13129918|PMID:14730227|PMID:15138499|PMID:15472996|PMID:17576681|PMID:17994018|PMID:19409525|PMID:20734336|PMID:20970362|PMID:21248741|PMID:21288906|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22753406|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24033266|PMID:24293535|PMID:24621862|PMID:24998021|PMID:25326635|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26637293|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:28492532|PMID:28652363|PMID:28659821|PMID:29300374|PMID:30341550|PMID:31911919|PMID:9536098 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1348351 D RGD:7240710 20180130 OMIM 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1348351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 | ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:10532176|PMID:13129918|PMID:14730227|PMID:15138499|PMID:15472996|PMID:16199547|PMID:17576681|PMID:17994018|PMID:19409525|PMID:19639654|PMID:20734336|PMID:20970362|PMID:21212136|PMID:21248741|PMID:21288906|PMID:21733706|PMID:21937134|PMID:22001912|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22753406|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23041370|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24020716|PMID:24033266|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24793577|PMID:24998021|PMID:25326635|PMID:25504618|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26188975|PMID:26637293|PMID:27146836|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27567161|PMID:27611364|PMID:28074886|PMID:28492532|PMID:28652363|PMID:28659821|PMID:28848449|PMID:28855619|PMID:29202781|PMID:29300374|PMID:29543232|PMID:29687370|PMID:29867215|PMID:29907982|PMID:30056620|PMID:30341550|PMID:30975232|PMID:31911919|PMID:32093627|PMID:34422331|PMID:36053285|PMID:9536098 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26435214|PMID:26739621 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621676 D RGD:9068941 20220520 RGD associated with Schistosomiasis Japonica; mRNA:increased expression:liver (rat) PMID:29323718|REF_RGD_ID:38599216 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:9002231 Fetal Growth Retardation ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28157488 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:9002928 Colonic Neoplasms ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:9006182 Carotid Artery Injuries ISO RGD:1616012 D RGD:9068941 20230427 RGD protein:decreased expression:vascular smooth muscle cell carotid artery (mouse) PMID:25751394|REF_RGD_ID:329328927 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:9007889 Nephrogenic Fibrosing Dermopathy ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20570839 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:9007900 Multisystemic Smooth Muscle Dysfunction Syndrome ISO RGD:1348351 D RGD:7240710 20180130 OMIM 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:9007900 Multisystemic Smooth Muscle Dysfunction Syndrome ISO RGD:1348351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY | ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome PMID:10532176|PMID:13129918|PMID:14730227|PMID:15138499|PMID:15472996|PMID:17576681|PMID:17994018|PMID:19409525|PMID:20734336|PMID:20970362|PMID:21248741|PMID:21288906|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24033266|PMID:24293535|PMID:24621862|PMID:24998021|PMID:25326635|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26637293|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27567161|PMID:28492532|PMID:28652363|PMID:28659821|PMID:29300374|PMID:31911919|PMID:9536098 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:9008510 Chronic Hepatitis ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:1348351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:25741868|PMID:28492532 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:9008691 Liver Injury ISO RGD:621676 D RGD:9068941 20200609 RGD protein:increased expression:hepatic stellate cell:: PMID:24204762|REF_RGD_ID:12879446 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:9008939 Breast Neoplasms ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 12268039 ACTA2 actin alpha 2, smooth muscle gene DOID:9009005 Familial Thoracic Aortic Aneurysm 2 ISO RGD:1348351 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 PMID:17994018|PMID:19409525|PMID:19639654|PMID:21212136|PMID:21248741|PMID:24020716|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29907982 12268052 NIBAN1 niban apoptosis regulator 1 gene DOID:13580 cholestasis ISO RGD:736616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12268052 NIBAN1 niban apoptosis regulator 1 gene DOID:1540 parathyroid carcinoma ISO RGD:736616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12268052 NIBAN1 niban apoptosis regulator 1 gene DOID:630 genetic disease ISO RGD:736616 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12268052 NIBAN1 niban apoptosis regulator 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12268077 SDE2 SDE2 telomere maintenance homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1603354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12268077 SDE2 SDE2 telomere maintenance homolog gene DOID:630 genetic disease ISO RGD:1603354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12268077 SDE2 SDE2 telomere maintenance homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12268092 SCML2 Scm polycomb group protein like 2 gene DOID:0050902 medulloblastoma ISO RGD:1352337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 12268092 SCML2 Scm polycomb group protein like 2 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1352337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12268092 SCML2 Scm polycomb group protein like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12268092 SCML2 Scm polycomb group protein like 2 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1352337 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:19780792|PMID:21770923|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684 12268092 SCML2 Scm polycomb group protein like 2 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1352337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12268092 SCML2 Scm polycomb group protein like 2 gene DOID:12849 autistic disorder ISO RGD:1352337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12268092 SCML2 Scm polycomb group protein like 2 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1352337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12268092 SCML2 Scm polycomb group protein like 2 gene DOID:630 genetic disease ISO RGD:1352337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12268092 SCML2 Scm polycomb group protein like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12268120 SLC41A2 solute carrier family 41 member 2 gene DOID:630 genetic disease ISO RGD:1316398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12268155 CWC22 CWC22 spliceosome associated protein homolog gene DOID:630 genetic disease ISO RGD:1605651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12268195 FCRLA Fc receptor like A gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1606206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 12268195 FCRLA Fc receptor like A gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1606206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12268195 FCRLA Fc receptor like A gene DOID:1540 parathyroid carcinoma ISO RGD:1606206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12268195 FCRLA Fc receptor like A gene DOID:630 genetic disease ISO RGD:1606206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12268195 FCRLA Fc receptor like A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12268204 PPARGC1B PPARG coactivator 1 beta gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350671 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12268204 PPARGC1B PPARG coactivator 1 beta gene DOID:0080600 COVID-19 ISO RGD:1350671 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12268204 PPARGC1B PPARG coactivator 1 beta gene DOID:1168 familial hyperlipidemia ISO RGD:1350671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17932310 12268204 PPARGC1B PPARG coactivator 1 beta gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1350671 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:22975021 12268204 PPARGC1B PPARG coactivator 1 beta gene DOID:630 genetic disease ISO RGD:1350671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12268204 PPARGC1B PPARG coactivator 1 beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12268204 PPARGC1B PPARG coactivator 1 beta gene DOID:9004484 Sepsis ISO RGD:1331978 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:20647557|REF_RGD_ID:6484531 12268204 PPARGC1B PPARG coactivator 1 beta gene DOID:9004484 Sepsis ISO RGD:727948 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:20647557|REF_RGD_ID:6484531 12268204 PPARGC1B PPARG coactivator 1 beta gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350671 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12268204 PPARGC1B PPARG coactivator 1 beta gene DOID:9007692 Insulin Resistance ISO RGD:1350671 D RGD:9068941 20200609 RGD PMID:16896940|REF_RGD_ID:1642499 12268204 PPARGC1B PPARG coactivator 1 beta gene DOID:9008939 Breast Neoplasms ISO RGD:1350671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961995 12268204 PPARGC1B PPARG coactivator 1 beta gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1350671 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:102605C>A PMID:16759305|REF_RGD_ID:1642500 12268204 PPARGC1B PPARG coactivator 1 beta gene DOID:9970 obesity ISO RGD:1350671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity, variation in PMID:15863669 12268204 PPARGC1B PPARG coactivator 1 beta gene DOID:9970 obesity resistance ISO RGD:1350671 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A203P PMID:15863669|REF_RGD_ID:1642501 12268237 MOCOS molybdenum cofactor sulfurase gene DOID:1059 intellectual disability ISO RGD:1318297 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12268237 MOCOS molybdenum cofactor sulfurase gene DOID:12450 pancytopenia ISO RGD:1318297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29935280 12268237 MOCOS molybdenum cofactor sulfurase gene DOID:2977 primary hyperoxaluria ISO RGD:1318297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:25741868 12268237 MOCOS molybdenum cofactor sulfurase gene DOID:630 genetic disease ISO RGD:1318297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12268237 MOCOS molybdenum cofactor sulfurase gene DOID:865 vasculitis ISO RGD:1318297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29935280 12268237 MOCOS molybdenum cofactor sulfurase gene DOID:9004466 Xanthinuria, Type II ISO RGD:1318297 D RGD:7240710 20190315 OMIM 12268237 MOCOS molybdenum cofactor sulfurase gene DOID:9004466 Xanthinuria, Type II ISO RGD:1318297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Xanthinuria type II PMID:11302742|PMID:14624414|PMID:16199547|PMID:17368066|PMID:17576681|PMID:25741868|PMID:25967871|PMID:28492532|PMID:29935280|PMID:34440436|PMID:9536098 12268237 MOCOS molybdenum cofactor sulfurase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1318297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29935280 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0050777 Joubert syndrome ISO RGD:731784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0060041 autism spectrum disorder ISO RGD:731784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868|PMID:28492532 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:731784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:731784 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:731784 D RGD:7240710 20180130 OMIM 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:731784 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GRIN1-Related Disorder | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 8 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:10197535|PMID:12451122|PMID:16199547|PMID:16826528|PMID:17576681|PMID:19264732|PMID:20716669|PMID:21376300|PMID:22246434|PMID:22833210|PMID:24088041|PMID:25008524|PMID:25326635|PMID:25590979|PMID:25741868|PMID:25864721|PMID:26350515|PMID:26467025|PMID:26633545|PMID:26833960|PMID:27159321|PMID:27164704|PMID:28051072|PMID:28228639|PMID:28389307|PMID:28492532|PMID:28507080|PMID:29365063|PMID:29720203|PMID:30217972|PMID:30355546|PMID:30755392|PMID:30776697|PMID:31219694|PMID:31429998|PMID:31487502|PMID:32827528|PMID:33122756|PMID:33333793|PMID:34884460|PMID:35393335|PMID:9536098 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:731784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:731784 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:731784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:731784 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:731784 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome PMID:25741868|PMID:28492532 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0081097 Rafiq syndrome ISO RGD:731784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:10283 prostate cancer ISO RGD:731784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:1059 intellectual disability ISO RGD:731784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10201407|PMID:25008524|PMID:25167861|PMID:25741868|PMID:27159321|PMID:27164704|PMID:28228639|PMID:28389307|PMID:28492532|PMID:30776697|PMID:33122756 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:10652 Alzheimer's disease ISO RGD:731784 D RGD:9068941 20200609 RGD PMID:24156266|REF_RGD_ID:13792688 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:11446 sciatic neuropathy ISO RGD:2736 D RGD:9068941 20200609 RGD PMID:26656067|REF_RGD_ID:13792690 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:12098 trigeminal neuralgia ISO RGD:731784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:12849 autistic disorder ISO RGD:731784 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868|PMID:28492532 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:12849 autistic disorder ISO RGD:731784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868|PMID:27159321|PMID:28492532|PMID:30755392 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:1561 cognitive disorder ISO RGD:2736 D RGD:9068941 20200609 RGD associated with Fetal Hypoxia;mRNA, protein:decreased expression:hippocampus PMID:26656067|REF_RGD_ID:13792690 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:1574 alcohol use disorder ISO RGD:731784 D RGD:9068941 20200609 RGD PMID:14573320|REF_RGD_ID:1642372 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:1824 status epilepticus ISO RGD:2736 D RGD:9068941 20200609 RGD PMID:25457025|REF_RGD_ID:13792697 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:1826 epilepsy ISO RGD:731784 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:20716669|PMID:22246434|PMID:24088041|PMID:25741868|PMID:26633545|PMID:27164704|PMID:28228639|PMID:28492532|PMID:31429998|PMID:31487502|PMID:34884460 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:2468 psychotic disorder ISO RGD:731784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:731784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:29358611 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2736 D RGD:9068941 20200609 RGD PMID:26674869|REF_RGD_ID:11068571 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:3526 cerebral infarction severity ISO RGD:731784 D RGD:9068941 20200609 RGD PMID:23723305|REF_RGD_ID:13792693 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:3652 Leigh disease ISO RGD:731784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:3891 placental insufficiency ISO RGD:2736 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:hippocampus (rat) PMID:19144756|REF_RGD_ID:2326049 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:5419 schizophrenia ISO RGD:10685 D RGD:9068941 20220825 MouseDO OMIM:181500 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:630 genetic disease ISO RGD:731784 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10197535|PMID:10201407|PMID:12451122|PMID:15970596|PMID:17576681|PMID:20716669|PMID:22246434|PMID:22833210|PMID:24088041|PMID:25008524|PMID:25741868|PMID:26467025|PMID:26633545|PMID:27159321|PMID:27164704|PMID:28228639|PMID:28492532|PMID:29720203|PMID:30776697|PMID:31429998|PMID:31487502|PMID:34884460|PMID:9536098 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:8725 vascular dementia ISO RGD:731784 D RGD:9068941 20200609 RGD associated with Alzheimer's disease PMID:25261450|REF_RGD_ID:13792687 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9000271 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation ISO RGD:731784 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation PMID:25741868 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9000641 Pain ISO RGD:731784 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18155693 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9002211 Hyperalgesia ISO RGD:731784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9003569 Developmental and Epileptic Encephalopathy 101 ISO RGD:731784 D RGD:7240710 20220406 OMIM 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9003569 Developmental and Epileptic Encephalopathy 101 ISO RGD:731784 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 101 PMID:25741868|PMID:27164704|PMID:28492532|PMID:31219694|PMID:34611970 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2736 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus (rat) PMID:19761817|REF_RGD_ID:2325954 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9003816 Macrocephaly ISO RGD:731784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868|PMID:27159321|PMID:28492532|PMID:30755392 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25326635|PMID:25741868|PMID:27164704 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9005466 Language Development Disorders ISO RGD:731784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Expressive language delay PMID:25741868|PMID:27159321|PMID:28492532|PMID:30755392 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16014726|PMID:20149346 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:731784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9006205 Animal Disease Models ISO RGD:731784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9007956 Febrile Seizures ISO RGD:731784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Febrile seizures PMID:25741868|PMID:27159321|PMID:28492532|PMID:30755392 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9008086 Developmental Disabilities ISO RGD:731784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:27159321|PMID:28492532|PMID:30755392 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9008237 Hemimegalencephaly ISO RGD:731784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemimegalencephaly PMID:25741868 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9009115 Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive ISO RGD:731784 D RGD:7240710 20190315 OMIM 12268259 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9009115 Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive ISO RGD:731784 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive PMID:22833210|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27159321|PMID:27164704|PMID:28051072|PMID:28492532|PMID:30776697 12268282 MED15 mediator complex subunit 15 gene DOID:0060041 autism spectrum disorder ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12268282 MED15 mediator complex subunit 15 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1316826 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12268282 MED15 mediator complex subunit 15 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1316826 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12268282 MED15 mediator complex subunit 15 gene DOID:10487 Hirschsprung's disease ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 12268282 MED15 mediator complex subunit 15 gene DOID:1059 intellectual disability ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12268282 MED15 mediator complex subunit 15 gene DOID:11198 DiGeorge syndrome ISO RGD:1316826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12268282 MED15 mediator complex subunit 15 gene DOID:11372 megacolon ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12268282 MED15 mediator complex subunit 15 gene DOID:12583 velocardiofacial syndrome ISO RGD:1316826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12268282 MED15 mediator complex subunit 15 gene DOID:12849 autistic disorder ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12268282 MED15 mediator complex subunit 15 gene DOID:1826 epilepsy ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12268282 MED15 mediator complex subunit 15 gene DOID:2213 hemorrhagic disease ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 12268282 MED15 mediator complex subunit 15 gene DOID:5419 schizophrenia ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12268282 MED15 mediator complex subunit 15 gene DOID:612 primary immunodeficiency disease ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12268282 MED15 mediator complex subunit 15 gene DOID:630 genetic disease ISO RGD:1316826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12268282 MED15 mediator complex subunit 15 gene DOID:9003871 Venous Thrombosis ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 12268282 MED15 mediator complex subunit 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12268282 MED15 mediator complex subunit 15 gene DOID:9007661 Dwarfism ISO RGD:1316826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12268315 SLC51A solute carrier family 51 subunit alpha gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1604974 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 12268315 SLC51A solute carrier family 51 subunit alpha gene DOID:12236 primary biliary cholangitis ISO RGD:1604974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16423920 12268315 SLC51A solute carrier family 51 subunit alpha gene DOID:12849 autistic disorder ISO RGD:1604974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12268315 SLC51A solute carrier family 51 subunit alpha gene DOID:13580 cholestasis ISO RGD:1604974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16423920|PMID:22461449 12268315 SLC51A solute carrier family 51 subunit alpha gene DOID:1561 cognitive disorder ISO RGD:1604974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 12268315 SLC51A solute carrier family 51 subunit alpha gene DOID:5419 schizophrenia ISO RGD:1604974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12268315 SLC51A solute carrier family 51 subunit alpha gene DOID:630 genetic disease ISO RGD:1604974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12268315 SLC51A solute carrier family 51 subunit alpha gene DOID:9002471 Progressive Familial Intrahepatic Cholestasis 6 ISO RGD:1604974 D RGD:7240710 20210825 OMIM 12268315 SLC51A solute carrier family 51 subunit alpha gene DOID:9002471 Progressive Familial Intrahepatic Cholestasis 6 ISO RGD:1604974 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 6 PMID:25741868|PMID:31863603 12268315 SLC51A solute carrier family 51 subunit alpha gene DOID:9002661 Diabetes Complications ISO RGD:1604974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 12268339 CFAP69 cilia and flagella associated protein 69 gene DOID:0111929 spermatogenic failure 24 ISO RGD:1605631 D RGD:7240710 20190315 OMIM 12268339 CFAP69 cilia and flagella associated protein 69 gene DOID:0111929 spermatogenic failure 24 ISO RGD:1605631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 24 PMID:25741868|PMID:29606301|PMID:30415212 12268339 CFAP69 cilia and flagella associated protein 69 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12268339 CFAP69 cilia and flagella associated protein 69 gene DOID:630 genetic disease ISO RGD:1605631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12268383 KLRF1 killer cell lectin like receptor F1 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1343603 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 12268383 KLRF1 killer cell lectin like receptor F1 gene DOID:630 genetic disease ISO RGD:1343603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12268383 KLRF1 killer cell lectin like receptor F1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1343603 D RGD:9068941 20220901 RGD mRNA:decreased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 12268391 TCL1B TCL1 family AKT coactivator B gene DOID:14330 Parkinson's disease ISO RGD:1346019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 12268391 TCL1B TCL1 family AKT coactivator B gene DOID:630 genetic disease ISO RGD:1346019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12268391 TCL1B TCL1 family AKT coactivator B gene DOID:9000965 Neoplasm Metastasis ISO RGD:1346019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228224 12268391 TCL1B TCL1 family AKT coactivator B gene DOID:9008939 Breast Neoplasms ISO RGD:1346019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228224 12268396 MEIS2 Meis homeobox 2 gene DOID:0050567 orofacial cleft ISO RGD:1313085 D RGD:9068941 20221020 RGD DNA:mutations, haplotype insufficiency: : PMID:24678003|REF_RGD_ID:155598680 12268396 MEIS2 Meis homeobox 2 gene DOID:0111697 cleft palate, cardiac defects, and intellectual disabillity ISO RGD:1313085 D RGD:7240710 20190315 OMIM 12268396 MEIS2 Meis homeobox 2 gene DOID:0111697 cleft palate, cardiac defects, and intellectual disabillity ISO RGD:1313085 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies PMID:24678003|PMID:25712757|PMID:25741868|PMID:27225850|PMID:28492532|PMID:30055086|PMID:30291340|PMID:33526774 12268396 MEIS2 Meis homeobox 2 gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:1313085 D RGD:9068941 20221020 RGD DNA:SNP::rs28480457(human) PMID:29452408|REF_RGD_ID:155630591 12268396 MEIS2 Meis homeobox 2 gene DOID:2717 Bloom syndrome ISO RGD:1313085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12268396 MEIS2 Meis homeobox 2 gene DOID:3454 brain infarction ISO RGD:1305198 D RGD:9068941 20221027 RGD protein:altered expression:brain (rat) PMID:12161747|REF_RGD_ID:155630606 12268396 MEIS2 Meis homeobox 2 gene DOID:630 genetic disease ISO RGD:1313085 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30291340|PMID:30735726 12268396 MEIS2 Meis homeobox 2 gene DOID:674 cleft palate ISO RGD:1313085 D RGD:9068941 20221020 RGD DNA:mutations:cds:multiples PMID:30291340|REF_RGD_ID:155598678 12268396 MEIS2 Meis homeobox 2 gene DOID:8927 learning disability ISO RGD:1313085 D RGD:9068941 20221020 RGD DNA:mutations, haplotype insufficiency: : PMID:24678003|REF_RGD_ID:155598680 12268396 MEIS2 Meis homeobox 2 gene DOID:9004397 calcification of aortic valve ISO RGD:1313085 D RGD:9068941 20221020 RGD mRNA,protein:decreased expression:aortic valve: PMID:30594396|REF_RGD_ID:155598679 12268396 MEIS2 Meis homeobox 2 gene DOID:9005813 DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES ISO RGD:1313085 D RGD:9068941 20221020 RGD DNA:mutations:cds:multiples PMID:30291340|REF_RGD_ID:155598678 12268396 MEIS2 Meis homeobox 2 gene DOID:9256 colorectal cancer ISO RGD:1313085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12268434 BUB1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:0080600 COVID-19 ISO RGD:1323304 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12268434 BUB1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:1520 colon carcinoma ISO RGD:1323304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:9521327 12268434 BUB1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1323304 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12268434 BUB1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1323304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12268434 BUB1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:9001690 Primary Autosomal Recessive Microcephaly 30 ISO RGD:1323304 D RGD:7240710 20230104 OMIM 12268434 BUB1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:9001690 Primary Autosomal Recessive Microcephaly 30 ISO RGD:1323304 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microcephaly 30, primary, autosomal recessive PMID:35044816 12268434 BUB1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1323304 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 12268434 BUB1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:1323304 D RGD:7240710 20200226 OMIM 12268434 BUB1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:1323304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer with chromosomal instability, somatic PMID:9521327 12268434 BUB1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:9256 colorectal cancer susceptibility ISO RGD:1323304 D RGD:9068941 20200609 RGD DNA:splice-site mutation, missense mutation PMID:9521327|REF_RGD_ID:1600539 12268463 EXOC7 exocyst complex component 7 gene DOID:630 genetic disease ISO RGD:1347556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12268463 EXOC7 exocyst complex component 7 gene DOID:9009012 NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY ISO RGD:1347556 D RGD:7240710 20210120 OMIM 12268463 EXOC7 exocyst complex component 7 gene DOID:9009012 NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY ISO RGD:1347556 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and brain atrophy PMID:25741868|PMID:32103185 12268503 OR4S2 olfactory receptor family 4 subfamily S member 2 gene DOID:1059 intellectual disability ISO RGD:1345934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12268503 OR4S2 olfactory receptor family 4 subfamily S member 2 gene DOID:630 genetic disease ISO RGD:1345934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12268514 FAM180B family with sequence similarity 180 member B gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:2298817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12268514 FAM180B family with sequence similarity 180 member B gene DOID:1059 intellectual disability ISO RGD:2298817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12268514 FAM180B family with sequence similarity 180 member B gene DOID:630 genetic disease ISO RGD:2298817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12268529 USF3 upstream transcription factor family member 3 gene DOID:0081250 CIC-rearranged sarcoma ISO RGD:1602969 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: CIC-DUX Sarcoma 12268529 USF3 upstream transcription factor family member 3 gene DOID:630 genetic disease ISO RGD:1602969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12268529 USF3 upstream transcription factor family member 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1602969 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 12268545 SAP25 Sin3A associated protein 25 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:5132311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12268545 SAP25 Sin3A associated protein 25 gene DOID:630 genetic disease ISO RGD:5132311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12268555 ANKMY2 ankyrin repeat and MYND domain containing 2 gene DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 ISO RGD:1314392 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 PMID:23288328|PMID:28492532 12268555 ANKMY2 ankyrin repeat and MYND domain containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12268555 ANKMY2 ankyrin repeat and MYND domain containing 2 gene DOID:630 genetic disease ISO RGD:1314392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12268555 ANKMY2 ankyrin repeat and MYND domain containing 2 gene DOID:9002189 High Myopia ISO RGD:1314392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12268682 GLIPR1 GLI pathogenesis related 1 gene DOID:2154 nephroblastoma ISO RGD:1314328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18030365 12268682 GLIPR1 GLI pathogenesis related 1 gene DOID:630 genetic disease ISO RGD:1314328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12268682 GLIPR1 GLI pathogenesis related 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12268698 HINT1 histidine triad nucleotide binding protein 1 gene DOID:0050526 Gamstorp-Wohlfart syndrome ISO RGD:1606034 D RGD:7240710 20180130 OMIM 12268698 HINT1 histidine triad nucleotide binding protein 1 gene DOID:0050526 Gamstorp-Wohlfart syndrome ISO RGD:1606034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive axonal neuropathy with neuromyotonia PMID:16199547|PMID:16835243|PMID:17576681|PMID:1851512|PMID:22961002|PMID:24105373|PMID:25342199|PMID:25741868|PMID:26059562|PMID:26182879|PMID:27549087|PMID:28492532|PMID:29787766|PMID:31088288|PMID:31400136|PMID:31673878|PMID:31832804|PMID:31848916|PMID:33369814|PMID:33663550|PMID:34694653|PMID:9536098 12268698 HINT1 histidine triad nucleotide binding protein 1 gene DOID:0050742 nicotine dependence ISO RGD:1606034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20514075 12268698 HINT1 histidine triad nucleotide binding protein 1 gene DOID:0080000 muscular disease ISO RGD:1606034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22961002 12268698 HINT1 histidine triad nucleotide binding protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606034 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12268698 HINT1 histidine triad nucleotide binding protein 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1606034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:22961002|PMID:24105373|PMID:25342199|PMID:25741868|PMID:28492532|PMID:29787766|PMID:31673878 12268698 HINT1 histidine triad nucleotide binding protein 1 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1606034 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 12268698 HINT1 histidine triad nucleotide binding protein 1 gene DOID:5419 schizophrenia ISO RGD:1606034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17203012|PMID:20514075 12268698 HINT1 histidine triad nucleotide binding protein 1 gene DOID:574 peripheral nervous system disease ISO RGD:1606034 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:22961002|PMID:25342199|PMID:25741868|PMID:26182879|PMID:27549087|PMID:28492532|PMID:29787766|PMID:34694653 12268698 HINT1 histidine triad nucleotide binding protein 1 gene DOID:630 genetic disease ISO RGD:1606034 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1851512|PMID:22961002|PMID:25342199|PMID:25741868|PMID:26182879|PMID:27549087|PMID:28492532|PMID:29787766|PMID:31832804|PMID:34694653 12268698 HINT1 histidine triad nucleotide binding protein 1 gene DOID:7319 axonal neuropathy ISO RGD:1606034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensory axonal neuropathy 12268698 HINT1 histidine triad nucleotide binding protein 1 gene DOID:870 neuropathy ISO RGD:1606034 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:22961002|PMID:25342199|PMID:25741868|PMID:26182879|PMID:27549087|PMID:28492532|PMID:29787766|PMID:34694653 12268698 HINT1 histidine triad nucleotide binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12268698 HINT1 histidine triad nucleotide binding protein 1 gene DOID:9006079 Inherited Peripheral Neuropathy ISO RGD:1606034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22961002 12268698 HINT1 histidine triad nucleotide binding protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606034 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12268712 MYH4 myosin heavy chain 4 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:1323747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 12268712 MYH4 myosin heavy chain 4 gene DOID:11446 sciatic neuropathy treatment ISO RGD:3139 D RGD:9068941 20220915 RGD PMID:14973145|REF_RGD_ID:9686059 12268712 MYH4 myosin heavy chain 4 gene DOID:630 genetic disease ISO RGD:1323747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12268712 MYH4 myosin heavy chain 4 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3139 D RGD:9068941 20220915 RGD associated with Heart Failure;protein:decreased expression:diaphragm PMID:25060722|REF_RGD_ID:9686065 12268752 ATRX ATRX chromatin remodeler gene DOID:0050581 brachydactyly ISO RGD:1553098 D RGD:9068941 20200609 RGD PMID:23892236|REF_RGD_ID:9586033 12268752 ATRX ATRX chromatin remodeler gene DOID:0050908 myelodysplastic syndrome ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19157545 12268752 ATRX ATRX chromatin remodeler gene DOID:0060118 thoracic disease ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19291773 12268752 ATRX ATRX chromatin remodeler gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12268752 ATRX ATRX chromatin remodeler gene DOID:0060812 syndromic X-linked intellectual disability Siderius type ISO RGD:1605736 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Siderius type PMID:25741868 12268752 ATRX ATRX chromatin remodeler gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12268752 ATRX ATRX chromatin remodeler gene DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ISO RGD:1605736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia PMID:28492532 12268752 ATRX ATRX chromatin remodeler gene DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 ISO RGD:1605736 D RGD:7240710 20180130 OMIM 12268752 ATRX ATRX chromatin remodeler gene DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 ISO RGD:1605736 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHUDLEY-LOWRY SYNDROME | ClinVar Annotator: match by term: Carpenter-Waziri syndrome | ClinVar Annotator: match by term: Intellectual disability-hypotonic facies syndrome, X-linked PMID:10398234|PMID:10398237|PMID:10632111|PMID:10751095|PMID:10995512|PMID:11050622|PMID:12116232|PMID:15508018|PMID:15565397|PMID:15591283|PMID:16222662|PMID:16813605|PMID:1684092|PMID:16955409|PMID:18409179|PMID:18414213|PMID:20500465|PMID:21267006|PMID:23681356|PMID:24289169|PMID:24327140|PMID:24690944|PMID:24728327|PMID:24805811|PMID:25167861|PMID:25326635|PMID:25326637|PMID:25590979|PMID:25741868|PMID:25936994|PMID:26350204|PMID:26467025|PMID:28027854|PMID:28371217|PMID:28492532|PMID:29706636|PMID:31130284|PMID:3239563|PMID:32595695|PMID:6682021|PMID:6711605|PMID:7697714|PMID:8630485|PMID:8968741|PMID:9043863|PMID:9244431|PMID:9326931 12268752 ATRX ATRX chromatin remodeler gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:1605736 D RGD:7240710 20180130 OMIM 12268752 ATRX ATRX chromatin remodeler gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:1605736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED | ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome | ClinVar Annotator: match by term: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome | ClinVar Annotator: match by term: X-linked alpha-thalassemia-mental retardation syndrome PMID:10204841|PMID:10398237|PMID:10417298|PMID:10632111|PMID:10660327|PMID:10995512|PMID:11050622|PMID:12116232|PMID:12673795|PMID:15508018|PMID:15591283|PMID:16199547|PMID:16763962|PMID:16813605|PMID:16935875|PMID:16955409|PMID:17576681|PMID:17579672|PMID:17609377|PMID:18409179|PMID:18414213|PMID:19291773|PMID:20500465|PMID:20655035|PMID:21421568|PMID:21505078|PMID:22129561|PMID:22659343|PMID:22796527|PMID:22995991|PMID:23352163|PMID:23681356|PMID:24082139|PMID:24289169|PMID:24327140|PMID:24690944|PMID:24728327|PMID:24759409|PMID:24805811|PMID:25167861|PMID:25326635|PMID:25326637|PMID:25590979|PMID:25640679|PMID:25644381|PMID:25741868|PMID:26350204|PMID:26467025|PMID:26539891|PMID:28027854|PMID:28293299|PMID:28371217|PMID:28492530|PMID:28492532|PMID:28708303|PMID:29158550|PMID:29304373|PMID:29602769|PMID:29790871|PMID:29910053|PMID:31130284|PMID:32170002|PMID:3239563|PMID:32595695|PMID:3658675|PMID:6682021|PMID:6711605|PMID:7506096|PMID:7697714|PMID:7726225|PMID:8630485|PMID:8644709|PMID:8968741|PMID:9244431|PMID:9326931|PMID:9536098|PMID:9598720 12268752 ATRX ATRX chromatin remodeler gene DOID:0112125 alpha-thalassemia myelodysplasia syndrome ISO RGD:1605736 D RGD:7240710 20180130 OMIM 12268752 ATRX ATRX chromatin remodeler gene DOID:0112125 alpha-thalassemia myelodysplasia syndrome ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acquired hemoglobin H disease | ClinVar Annotator: match by term: Alpha-thalassemia myelodysplasia syndrome PMID:10995512|PMID:12858175|PMID:16955409|PMID:20500465|PMID:24327140|PMID:25590979|PMID:25741868|PMID:28492532|PMID:31130284|PMID:9326931 12268752 ATRX ATRX chromatin remodeler gene DOID:10534 stomach cancer ISO RGD:69092 D RGD:9068941 20220311 RGD PMID:27006499|REF_RGD_ID:11354809 12268752 ATRX ATRX chromatin remodeler gene DOID:1059 intellectual disability ISO RGD:1605736 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10398237|PMID:10632111|PMID:15508018|PMID:15591283|PMID:18409179|PMID:18414213|PMID:23681356|PMID:24690944|PMID:24805811|PMID:25167861|PMID:25326635|PMID:25741868|PMID:26350204|PMID:28371217|PMID:28492532|PMID:3239563|PMID:7697714 12268752 ATRX ATRX chromatin remodeler gene DOID:10907 microcephaly ISO RGD:1605736 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24690944|PMID:25741868|PMID:28371217|PMID:28492532|PMID:7697714 12268752 ATRX ATRX chromatin remodeler gene DOID:1115 sarcoma ISO RGD:1605736 D RGD:9068941 20200609 RGD protein:decreased expression: : PMID:26428317|REF_RGD_ID:11536196 12268752 ATRX ATRX chromatin remodeler gene DOID:11383 cryptorchidism ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: undescended testicle PMID:24690944|PMID:25741868|PMID:28371217|PMID:28492532|PMID:7697714 12268752 ATRX ATRX chromatin remodeler gene DOID:12849 autistic disorder ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12268752 ATRX ATRX chromatin remodeler gene DOID:12858 Huntington's disease ISO RGD:1553098 D RGD:9068941 20200609 RGD PMID:22240898|REF_RGD_ID:11040584 12268752 ATRX ATRX chromatin remodeler gene DOID:1529 penile disease ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19291773 12268752 ATRX ATRX chromatin remodeler gene DOID:169 neuroendocrine tumor ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21252315 12268752 ATRX ATRX chromatin remodeler gene DOID:1793 pancreatic cancer ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21252315 12268752 ATRX ATRX chromatin remodeler gene DOID:1799 islet cell tumor disease_progression ISO RGD:1605736 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas: PMID:24148618|REF_RGD_ID:9586032 12268752 ATRX ATRX chromatin remodeler gene DOID:1838 Menkes disease ISO RGD:1605736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:28492532 12268752 ATRX ATRX chromatin remodeler gene DOID:1909 melanoma disease_progression ISO RGD:1605736 D RGD:9068941 20200609 RGD protein:decreased expression:skin: PMID:24468746|REF_RGD_ID:9586028 12268752 ATRX ATRX chromatin remodeler gene DOID:1923 disorder of sexual development ISO RGD:1605736 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ambiguous genitalia PMID:24690944|PMID:25741868|PMID:28371217|PMID:28492532|PMID:7697714 12268752 ATRX ATRX chromatin remodeler gene DOID:2129 atypical teratoid rhabdoid tumor ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor PMID:18414213|PMID:22995991|PMID:24082139|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28293299|PMID:28492530|PMID:28492532|PMID:29304373|PMID:29602769|PMID:29910053|PMID:7697714|PMID:8968741 12268752 ATRX ATRX chromatin remodeler gene DOID:3068 glioblastoma ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma multiforme, somatic 12268752 ATRX ATRX chromatin remodeler gene DOID:3068 glioblastoma disease_progression ISO RGD:1605736 D RGD:9068941 20200609 RGD PMID:27478330|REF_RGD_ID:13442489 12268752 ATRX ATRX chromatin remodeler gene DOID:3069 malignant astrocytoma ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma, anaplastic PMID:18414213|PMID:22995991|PMID:24082139|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28293299|PMID:28492530|PMID:28492532|PMID:29304373|PMID:29602769|PMID:29910053|PMID:7697714|PMID:8968741 12268752 ATRX ATRX chromatin remodeler gene DOID:3069 malignant astrocytoma disease_progression ISO RGD:1605736 D RGD:9068941 20200609 RGD PMID:24810474|REF_RGD_ID:9586026 12268752 ATRX ATRX chromatin remodeler gene DOID:3069 malignant astrocytoma severity ISO RGD:1605736 D RGD:9068941 20200609 RGD PMID:23765250|REF_RGD_ID:11040585 12268752 ATRX ATRX chromatin remodeler gene DOID:3070 high grade glioma ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23583981|PMID:24705251 12268752 ATRX ATRX chromatin remodeler gene DOID:3070 high grade glioma ISO RGD:1605736 D RGD:9068941 20200609 RGD DNA:mutations: :multiple PMID:23104868|REF_RGD_ID:11040587 12268752 ATRX ATRX chromatin remodeler gene DOID:3078 anaplastic astrocytoma ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma, anaplastic PMID:18414213|PMID:22995991|PMID:24082139|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28293299|PMID:28492530|PMID:28492532|PMID:29304373|PMID:29602769|PMID:29910053|PMID:7697714|PMID:8968741 12268752 ATRX ATRX chromatin remodeler gene DOID:3181 oligodendroglioma ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligodendroglioma 12268752 ATRX ATRX chromatin remodeler gene DOID:3347 osteosarcoma ISO RGD:1605736 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Osteosarcoma, somatic PMID:24690944|PMID:25741868|PMID:28371217|PMID:28492532|PMID:7697714 12268752 ATRX ATRX chromatin remodeler gene DOID:3376 bone osteosarcoma ISO RGD:1605736 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:24690944|PMID:25741868|PMID:28371217|PMID:28492532|PMID:7697714 12268752 ATRX ATRX chromatin remodeler gene DOID:3907 lung squamous cell carcinoma severity ISO RGD:1605736 D RGD:9068941 20210625 RGD PMID:31374064|REF_RGD_ID:127285382 12268752 ATRX ATRX chromatin remodeler gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1605736 D RGD:9068941 20210618 RGD PMID:31374064|REF_RGD_ID:127285382 12268752 ATRX ATRX chromatin remodeler gene DOID:3948 adrenocortical carcinoma ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 12268752 ATRX ATRX chromatin remodeler gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:1605736 D RGD:9068941 20210625 RGD PMID:29748005|PMID:31374064|REF_RGD_ID:127285382|REF_RGD_ID:127285383 12268752 ATRX ATRX chromatin remodeler gene DOID:5419 schizophrenia ISO RGD:1605736 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12268752 ATRX ATRX chromatin remodeler gene DOID:630 genetic disease ISO RGD:1605736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10204841|PMID:10398234|PMID:10398237|PMID:10632111|PMID:10660327|PMID:10995512|PMID:11050622|PMID:12673795|PMID:1505078|PMID:15508018|PMID:15591283|PMID:16813605|PMID:16935875|PMID:16955409|PMID:17576681|PMID:18409179|PMID:18414213|PMID:20500465|PMID:21421568|PMID:21505078|PMID:22995991|PMID:23352163|PMID:23681356|PMID:24082139|PMID:24327140|PMID:24728327|PMID:24805811|PMID:25167861|PMID:25326635|PMID:25590979|PMID:25741868|PMID:25936994|PMID:26350204|PMID:26467025|PMID:28293299|PMID:28492530|PMID:28492532|PMID:29304373|PMID:29602769|PMID:29910053|PMID:31130284|PMID:3239563|PMID:35444965|PMID:6711605|PMID:7697714|PMID:7726225|PMID:8968741|PMID:9326931|PMID:9536098 12268752 ATRX ATRX chromatin remodeler gene DOID:769 neuroblastoma ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334666|PMID:26523776 12268752 ATRX ATRX chromatin remodeler gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605736 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12268752 ATRX ATRX chromatin remodeler gene DOID:9005603 Muscle Hypotonia ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:10995512|PMID:21505078|PMID:22129561|PMID:25741868|PMID:28492532 12268752 ATRX ATRX chromatin remodeler gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19291773 12268752 ATRX ATRX chromatin remodeler gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1605736 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.T1621M (human) PMID:12116232|REF_RGD_ID:11040586 12268752 ATRX ATRX chromatin remodeler gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor severity ISO RGD:1605736 D RGD:9068941 20210625 RGD PMID:26026117|REF_RGD_ID:127285385 12268752 ATRX ATRX chromatin remodeler gene DOID:9006257 Growth Disorders ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19291773 12268752 ATRX ATRX chromatin remodeler gene DOID:9006534 Nervous System Malformations ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12268752 ATRX ATRX chromatin remodeler gene DOID:9006608 Lung Carcinoid Tumors disease_progression ISO RGD:1605736 D RGD:9068941 20210625 RGD protein:decreased expression:nucleus, lung PMID:31499081|REF_RGD_ID:127285379 12268752 ATRX ATRX chromatin remodeler gene DOID:9007661 Dwarfism ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12268752 ATRX ATRX chromatin remodeler gene DOID:9008086 Developmental Disabilities ISO RGD:1605736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:26539891|PMID:28492532|PMID:29790871 12268752 ATRX ATRX chromatin remodeler gene DOID:9008582 Developmental Disease ISO RGD:1605736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:26467025|PMID:28492532 12268752 ATRX ATRX chromatin remodeler gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19291773 12268800 WDR91 WD repeat domain 91 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12268800 WDR91 WD repeat domain 91 gene DOID:630 genetic disease ISO RGD:1606020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12268818 DOK1 docking protein 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1319871 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12268818 DOK1 docking protein 1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1319872 D RGD:9068941 20220519 RGD PMID:20139980|REF_RGD_ID:152177521 12268818 DOK1 docking protein 1 gene DOID:543 dystonia ISO RGD:1319871 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12268818 DOK1 docking protein 1 gene DOID:630 genetic disease ISO RGD:1319871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12268818 DOK1 docking protein 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1319871 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12268818 DOK1 docking protein 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1319871 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21856257 12268818 DOK1 docking protein 1 gene DOID:9004584 Myopia 28 ISO RGD:1319871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopia 28, autosomal recessive PMID:26957899|PMID:28492532 12268818 DOK1 docking protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1319871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20139980 12268830 FCGBP Fc gamma binding protein gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1350128 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12268830 FCGBP Fc gamma binding protein gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1350128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12268830 FCGBP Fc gamma binding protein gene DOID:1342 congenital hypoplastic anemia ISO RGD:1350128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12268830 FCGBP Fc gamma binding protein gene DOID:2340 craniosynostosis ISO RGD:1350128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12268830 FCGBP Fc gamma binding protein gene DOID:630 genetic disease ISO RGD:1350128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12268830 FCGBP Fc gamma binding protein gene DOID:9000217 Stomach Neoplasms ISO RGD:1350128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12268830 FCGBP Fc gamma binding protein gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1350128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12268830 FCGBP Fc gamma binding protein gene DOID:9269 maple syrup urine disease ISO RGD:1350128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12268830 FCGBP Fc gamma binding protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350128 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12268853 ZBTB7C zinc finger and BTB domain containing 7C gene DOID:1059 intellectual disability ISO RGD:1606940 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12268853 ZBTB7C zinc finger and BTB domain containing 7C gene DOID:630 genetic disease ISO RGD:1606940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12268864 RASGRP3 RAS guanyl releasing protein 3 gene DOID:10763 hypertension ISO RGD:1312152 D RGD:9068941 20200609 RGD PMID:19421330|REF_RGD_ID:2314812 12268864 RASGRP3 RAS guanyl releasing protein 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1312152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:26614431 12268864 RASGRP3 RAS guanyl releasing protein 3 gene DOID:630 genetic disease ISO RGD:1312152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12268864 RASGRP3 RAS guanyl releasing protein 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:1312152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838193 12268901 CCT4 chaperonin containing TCP1 subunit 4 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:727937 D RGD:9068941 20200609 RGD PMID:12874111|REF_RGD_ID:1299607 12268901 CCT4 chaperonin containing TCP1 subunit 4 gene DOID:5419 schizophrenia ISO RGD:1345648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12268901 CCT4 chaperonin containing TCP1 subunit 4 gene DOID:630 genetic disease ISO RGD:1345648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12268919 MIR122 microRNA mir-122 gene DOID:0002116 pterygium ISO RGD:2325577 D RGD:9068941 20200609 RGD RNA:decreased expression:conjunctiva PMID:27415790|REF_RGD_ID:14394423 12268919 MIR122 microRNA mir-122 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1347392 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 12268919 MIR122 microRNA mir-122 gene DOID:0111988 immunodeficiency 12 ISO RGD:1347392 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 12268919 MIR122 microRNA mir-122 gene DOID:12365 malaria treatment ISO RGD:1614752 D RGD:9068941 20200710 RGD PMID:28123381|REF_RGD_ID:35673288 12268919 MIR122 microRNA mir-122 gene DOID:1324 lung cancer treatment ISO RGD:1347392 D RGD:9068941 20220224 RGD human cells in mouse model PMID:25472877|REF_RGD_ID:151361106 12268919 MIR122 microRNA mir-122 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1347392 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver PMID:28987423|REF_RGD_ID:14401600 12268919 MIR122 microRNA mir-122 gene DOID:2043 hepatitis B ISO RGD:1347392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12268919 MIR122 microRNA mir-122 gene DOID:2043 hepatitis B severity ISO RGD:1347392 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver PMID:22105316|REF_RGD_ID:14401605 12268919 MIR122 microRNA mir-122 gene DOID:3021 acute kidney failure ISO RGD:1347392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 12268919 MIR122 microRNA mir-122 gene DOID:3770 pulmonary fibrosis ISO RGD:1347392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 12268919 MIR122 microRNA mir-122 gene DOID:5082 liver cirrhosis ISO RGD:1347392 D RGD:9068941 20220224 RGD mRNA:decreased expression:blood (human) PMID:27528885|REF_RGD_ID:151361113 12268919 MIR122 microRNA mir-122 gene DOID:684 hepatocellular carcinoma ISO RGD:1347392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16924677 12268919 MIR122 microRNA mir-122 gene DOID:684 hepatocellular carcinoma ISO RGD:1347392 D RGD:9068941 20200609 RGD PMID:25269820|REF_RGD_ID:14394424 12268919 MIR122 microRNA mir-122 gene DOID:684 hepatocellular carcinoma ISO RGD:1347392 D RGD:9068941 20220224 RGD mRNA:decreased expression:blood (human) PMID:27528885|REF_RGD_ID:151361113 12268919 MIR122 microRNA mir-122 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1347392 D RGD:9068941 20200609 RGD associated with hepatitis B; miRNA:decreased expression:liver PMID:25422324|REF_RGD_ID:14401603 12268919 MIR122 microRNA mir-122 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1347392 D RGD:9068941 20220224 RGD protein:decreased expression:liver (human) PMID:19584283|REF_RGD_ID:151356981 12268919 MIR122 microRNA mir-122 gene DOID:9000111 Radiation Injuries ISO RGD:1347392 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32422326 12268919 MIR122 microRNA mir-122 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:1347392 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32422326 12268919 MIR122 microRNA mir-122 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1614752 D RGD:9068941 20200609 RGD miRNA:decreased expression:hepatocyte PMID:28987423|REF_RGD_ID:14401600 12268919 MIR122 microRNA mir-122 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1614752 D RGD:9068941 20200609 RGD PMID:28987423|REF_RGD_ID:14401600 12268919 MIR122 microRNA mir-122 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1347392 D RGD:9068941 20200609 RGD miRNA:increased expression:serum PMID:24895202|REF_RGD_ID:14401602 12268919 MIR122 microRNA mir-122 gene DOID:9004590 Acute Liver Failure ISO RGD:1347392 D RGD:9068941 20200609 RGD miRNA:increased expression:serum PMID:24895202|REF_RGD_ID:14401602 12268919 MIR122 microRNA mir-122 gene DOID:9006646 Metabolic Syndrome ISO RGD:1347392 D RGD:9068941 20200609 RGD miRNA:increased expression:serum PMID:27899485|REF_RGD_ID:14401601 12268919 MIR122 microRNA mir-122 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347392 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:22045675|PMID:22363424|PMID:25359176|PMID:25527335|PMID:26489516|PMID:28545106|PMID:28844483|PMID:33483742 12268919 MIR122 microRNA mir-122 gene DOID:9008691 Liver Injury severity ISO RGD:1347392 D RGD:9068941 20200609 RGD associated with Gallstones; miRNA:increased expression:serum PMID:24086271|REF_RGD_ID:14401604 12268919 MIR122 microRNA mir-122 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347392 D RGD:9068941 20200609 RGD miRNA:increased expression:serum PMID:27899485|REF_RGD_ID:14401601 12268971 TACR3 tachykinin receptor 3 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:735782 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 12268971 TACR3 tachykinin receptor 3 gene DOID:0090071 hypogonadotropic hypogonadism 11 with or without anosmia ISO RGD:735782 D RGD:7240710 20180130 OMIM 12268971 TACR3 tachykinin receptor 3 gene DOID:0090071 hypogonadotropic hypogonadism 11 with or without anosmia ISO RGD:735782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 11 with or without anosmia PMID:18422838|PMID:19079066|PMID:20194706|PMID:20332248|PMID:21300340|PMID:22031817|PMID:22035731|PMID:23329188|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33363893 12268971 TACR3 tachykinin receptor 3 gene DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia ISO RGD:735782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated GnRH Deficiency 12268971 TACR3 tachykinin receptor 3 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:735782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25636053 12268971 TACR3 tachykinin receptor 3 gene DOID:10763 hypertension ISO RGD:3810 D RGD:9068941 20200609 RGD PMID:2471579|REF_RGD_ID:2305984 12268971 TACR3 tachykinin receptor 3 gene DOID:11832 visual epilepsy ISO RGD:3810 D RGD:9068941 20200609 RGD mRNA:altered expression:brain PMID:7898759|REF_RGD_ID:2305980 12268971 TACR3 tachykinin receptor 3 gene DOID:13938 amenorrhea ISO RGD:735782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 12268971 TACR3 tachykinin receptor 3 gene DOID:1574 alcohol use disorder ISO RGD:735782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18422838 12268971 TACR3 tachykinin receptor 3 gene DOID:1921 Klinefelter syndrome ISO RGD:735782 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 12268971 TACR3 tachykinin receptor 3 gene DOID:1924 hypogonadism ISO RGD:735782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19079066 12268971 TACR3 tachykinin receptor 3 gene DOID:3633 beta-mannosidosis ISO RGD:735782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 12268971 TACR3 tachykinin receptor 3 gene DOID:630 genetic disease ISO RGD:735782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12268971 TACR3 tachykinin receptor 3 gene DOID:9000641 Pain ISO RGD:3810 D RGD:9068941 20200609 RGD PMID:19093101|REF_RGD_ID:2304256 12268971 TACR3 tachykinin receptor 3 gene DOID:9001239 Delayed Puberty ISO RGD:735782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:25636053 12268971 TACR3 tachykinin receptor 3 gene DOID:9005372 Inflammation ISO RGD:3810 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:10891623|REF_RGD_ID:2305951 12268971 TACR3 tachykinin receptor 3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18422838 12268971 TACR3 tachykinin receptor 3 gene DOID:9006024 Hypotension ISO RGD:3810 D RGD:9068941 20200609 RGD PMID:18650316|REF_RGD_ID:2305929 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28067908 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:15638228|REF_RGD_ID:1625756 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:69659 D RGD:9068941 20200609 RGD proteion:increased expression:serum: PMID:12598355|REF_RGD_ID:11354982 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:20004360|REF_RGD_ID:4145463 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7686390|REF_RGD_ID:11520780 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:0060180 colitis ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:colon: PMID:22261574|REF_RGD_ID:7207796 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, lung (rat) PMID:20950211|REF_RGD_ID:4145335 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:0081120 Graves ophthalmopathy ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.1405A>G (human) PMID:14557478|REF_RGD_ID:8158124 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:0081267 graft-versus-host disease ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:liver,bile duct: PMID:10051478|REF_RGD_ID:11520783 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:0081292 traumatic brain injury ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28642177 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:0111151 Prinzmetal angina ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:9415270|REF_RGD_ID:8547713 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:10128 venous insufficiency susceptibility ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Venous Thrombosis; PMID:25495610|REF_RGD_ID:11054206 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:10247 pleurisy ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:bronchial epithelium (mouse) PMID:19056932|REF_RGD_ID:4145519 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:10247 pleurisy ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:10247 pleurisy ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Tuberculosis; protein:increased expression:pleural fluid, natural killer cell (human) PMID:19714575|REF_RGD_ID:4145510 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:10283 prostate cancer ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:19536890|REF_RGD_ID:4145511 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:10591 pre-eclampsia treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:21830843|REF_RGD_ID:8547718 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:10652 Alzheimer's disease ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.K469E (human) PMID:12498973|REF_RGD_ID:1358664 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:10754 otitis media ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20926702|REF_RGD_ID:8547580 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:10763 hypertension ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12149661|PMID:12425201 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:10763 hypertension ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum PMID:18619052|REF_RGD_ID:2312765 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:10952 nephritis treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:8773354|REF_RGD_ID:8547716 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:10964 cholesteatoma of middle ear ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:8562031|REF_RGD_ID:8547586 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:11054 urinary bladder cancer ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7686390|REF_RGD_ID:11520780 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:11204 allergic conjunctivitis ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:8766745|REF_RGD_ID:8547686 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:11263 chlamydia ISO RGD:10756 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:19728926|REF_RGD_ID:4145507 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:11394 adult respiratory distress syndrome severity ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:19858233|REF_RGD_ID:4145485 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:11446 sciatic neuropathy ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:20546684|REF_RGD_ID:8547739 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:11713 diabetic angiopathy ISO RGD:10756 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:aorta PMID:18093596|REF_RGD_ID:2306988 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:11713 diabetic angiopathy ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18796303|REF_RGD_ID:2313473 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:11714 gestational diabetes ISO RGD:69659 D RGD:9068941 20200609 RGD protein:decreased expression:placenta PMID:19343356|REF_RGD_ID:2313469 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:11714 gestational diabetes ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:decidua, endothelial cell PMID:17990298|REF_RGD_ID:2313476 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:heart left ventricle (rat) PMID:20601373|REF_RGD_ID:4145536 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:1205 allergic disease ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:7524984|REF_RGD_ID:8158114 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:1205 allergic disease ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Giardiasis;protein:increased expression:serum PMID:15587302|REF_RGD_ID:8547689 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:12236 primary biliary cholangitis treatment ISO RGD:10756 D RGD:9068941 20200609 RGD associated with Graft vs Host Disease; PMID:10051478|REF_RGD_ID:11520783 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:12351 alcoholic hepatitis severity ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:hepatocyte PMID:1347281|REF_RGD_ID:14402038 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:12361 Graves' disease ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:blood, lymphocyte PMID:12357047|REF_RGD_ID:8158121 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:12361 Graves' disease no_association ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:SNP: :p.K469E (rs5498) (human) PMID:17873320|REF_RGD_ID:8547702 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:12361 Graves' disease onset ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.721G>A (human) PMID:14557478|REF_RGD_ID:8158124 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:12365 malaria ISO RGD:69659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malaria, cerebral, susceptibility to | ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10417733|PMID:10699175|PMID:23609612|PMID:25741868|PMID:9259284|PMID:9861406 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:12365 malaria susceptibility ISO RGD:69659 D RGD:7240710 20190502 OMIM 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:12662 paracoccidioidomycosis ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:17003484|REF_RGD_ID:8547589 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:20888423|REF_RGD_ID:4145440 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Reperfusion Injury; mRNA, protein:increased expression:lung (rat) PMID:19837405|REF_RGD_ID:4145493 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17425601 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:nasopharynx PMID:20209309|REF_RGD_ID:4140425 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:1287 cardiovascular system disease ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16332659|PMID:25575156 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:12894 Sjogren's syndrome ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15037117|REF_RGD_ID:8547696 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:12894 Sjogren's syndrome ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:salivary gland PMID:11359451|REF_RGD_ID:8158122 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:12894 Sjogren's syndrome treatment ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:21589878|REF_RGD_ID:8547705 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:12986 leukostasis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10485912 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:13025 retinopathy of prematurity ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (rat) PMID:20368504|REF_RGD_ID:4145427 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:13141 uveitis ISO RGD:69659 D RGD:9068941 20200609 RGD protein:altered expression:serum, vitreous humor PMID:9640197|REF_RGD_ID:8547585 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:13141 uveitis treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:7641842|REF_RGD_ID:8158119 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:7743671|REF_RGD_ID:8547590 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:13241 Behcet's disease ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12074830|PMID:8712863 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:13241 Behcet's disease ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R241G (human) PMID:11409120|REF_RGD_ID:8547575 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:13241 Behcet's disease no_association ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R241G (human) PMID:10792421|REF_RGD_ID:8158123 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:13241 Behcet's disease susceptibility ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.K469E (human) PMID:12808331|REF_RGD_ID:8158115 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:13252 mesenteric vascular occlusion treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:7858885|REF_RGD_ID:11522711 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:13580 cholestasis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:13608 biliary atresia susceptibility ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G241R (human) PMID:18401716|REF_RGD_ID:14402043 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:1555 urticaria ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12121561 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:1586 rheumatic fever ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14567831|REF_RGD_ID:13702910 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:1612 breast cancer ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7686390|REF_RGD_ID:11520780 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:1793 pancreatic cancer ISO RGD:69659 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:11815996|REF_RGD_ID:2325165 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:1909 melanoma disease_progression ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:8599446|REF_RGD_ID:8547584 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:1936 atherosclerosis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12677255 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:22379785|REF_RGD_ID:8547729 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:2316 brain ischemia ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17394460|PMID:19417757 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:2349 arteriosclerosis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:2377 multiple sclerosis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20175758 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:2394 ovarian cancer ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7686390|REF_RGD_ID:11520780 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:2527 nephrosis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12845231 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:2723 dermatitis treatment ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:9366707|REF_RGD_ID:8547708 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:2773 contact dermatitis ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:20182448|REF_RGD_ID:5685684 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:2797 idiopathic interstitial pneumonia ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:lung, alveolar macrophage (human) PMID:19218648|REF_RGD_ID:4145518 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:2841 asthma ISO RGD:10756 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta (mouse) PMID:20400685|REF_RGD_ID:4145444 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:2841 asthma ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:lung, serum (rat) PMID:20953388|REF_RGD_ID:4145331 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:2841 asthma ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17014439|PMID:25003170 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:2841 asthma ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:lung (human) PMID:20205697|REF_RGD_ID:4145509 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:3021 acute kidney failure treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:22659586|REF_RGD_ID:7175102 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:10756 D RGD:9068941 20200609 RGD protein:decreased expression:airway epithelium (mouse) PMID:18794286|REF_RGD_ID:4145522 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29329563 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69659 D RGD:9068941 20200609 RGD mRNA:increased expression:airway epithelial cell (human) PMID:20395558|REF_RGD_ID:4145446 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:3454 brain infarction ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum PMID:18692933|REF_RGD_ID:2313474 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:3526 cerebral infarction ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:20083630|REF_RGD_ID:8547724 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:3770 pulmonary fibrosis ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:19254480|REF_RGD_ID:4145516 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:3904 bronchus carcinoma ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:lung (human) PMID:18764914|REF_RGD_ID:4145523 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:69659 D RGD:9068941 20200609 RGD progression-free survival; protein:increased secretion:serum (human) PMID:19949019|REF_RGD_ID:4145465 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:418 systemic scleroderma ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:1371389|PMID:18759276|REF_RGD_ID:8158120|REF_RGD_ID:8547576 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:418 systemic scleroderma disease_progression ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:8099861|REF_RGD_ID:8547587 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:4195 hyperglycemia ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:cerebral cortex, pyramidal layer (rat) PMID:20495289|REF_RGD_ID:4145407 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:4676 uremia ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17347482 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:4724 brain edema ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Reperfusion Injury; protein:increased expression:brain (rat) PMID:20570121|REF_RGD_ID:4145390 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:4989 pancreatitis ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12923961|REF_RGD_ID:2325163 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:4989 pancreatitis treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:23125085|REF_RGD_ID:8547728 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic;DNA:missense mutations, haplotype:cds:p.G241R, p.K469E (human) PMID:18233990|REF_RGD_ID:14402042 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:5199 ureteral obstruction ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:renal endothelium, epithelium, interstitium PMID:10930117|REF_RGD_ID:11522713 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:552 pneumonia treatment ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:22882462|REF_RGD_ID:8547727 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:5679 retinal disease ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19324842 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:574 peripheral nervous system disease ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:576 proteinuria ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA, protein:increased expression:kidney PMID:22681549|REF_RGD_ID:8547734 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:5844 myocardial infarction ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10070497 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:5844 myocardial infarction treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:23139358|REF_RGD_ID:8547733 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:69659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:6432 pulmonary hypertension ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Heart Defects, Congenital;protein:increased secretion:serum (human) PMID:21034646|REF_RGD_ID:4145436 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:26109813|REF_RGD_ID:11056752 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:783 end stage renal disease ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:20820841|REF_RGD_ID:4145364 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:820 myocarditis ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:22268115|REF_RGD_ID:13702908 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:820 myocarditis ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9556870|REF_RGD_ID:13702915 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:8472 localized scleroderma ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:7916356|REF_RGD_ID:8158116 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:8481 rheumatic myocarditis severity ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22987107|REF_RGD_ID:13702907 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:8506 bullous pemphigoid ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:1377725|REF_RGD_ID:8547591 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:8549 chronic ulcer of skin ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;protein:increased expression:blood PMID:8099861|REF_RGD_ID:8547587 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:8567 Hodgkin's lymphoma ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7621881|PMID:8656679 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:8567 Hodgkin's lymphoma ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7686390|REF_RGD_ID:11520780 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:8577 ulcerative colitis ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:substantia nigra (rat) PMID:20584104|REF_RGD_ID:4145388 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:8577 ulcerative colitis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15553846 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:874 bacterial pneumonia ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:19846873|REF_RGD_ID:4145490 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:8778 Crohn's disease ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:15638228|REF_RGD_ID:1625756 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:8893 psoriasis severity ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8094011|REF_RGD_ID:8547688 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:8893 psoriasis treatment ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:16181457|PMID:2015706|REF_RGD_ID:8158118|REF_RGD_ID:8547579 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:8923 skin melanoma disease_progression ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R241G (human) PMID:16313300|REF_RGD_ID:8547698 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:8947 diabetic retinopathy ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10485912 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:8947 diabetic retinopathy ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:18834676|REF_RGD_ID:2313472 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:8947 diabetic retinopathy ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.K469E (human) PMID:18942221|REF_RGD_ID:2313471 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:8947 diabetic retinopathy treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:25066112|REF_RGD_ID:11354984 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:8627308|REF_RGD_ID:11522712 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:21590495|REF_RGD_ID:8547712 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9000099 Experimental Colitis treatment ISO RGD:2857 D RGD:9068941 20220623 RGD PMID:10092309|PMID:29572553|REF_RGD_ID:11522714|REF_RGD_ID:152995414 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9000310 Lung Injury treatment ISO RGD:10756 D RGD:9068941 20200609 RGD associated with Bacteremia; PMID:24891762|REF_RGD_ID:11354979 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:20731855|REF_RGD_ID:4145368 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9000469 Viral Myocarditis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:11156888|REF_RGD_ID:13702912 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9000469 Viral Myocarditis treatment ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:11092674|REF_RGD_ID:13702913 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9000656 Penetrating Wounds ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:granulation tissue (rat) PMID:20638379|REF_RGD_ID:4145377 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9000722 Animal Hepatitis treatment ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:21695461|REF_RGD_ID:14402037 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17014439 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9000774 Brain Death ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:20810760|REF_RGD_ID:4145365 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9000784 Fibrosis ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:22844569|REF_RGD_ID:8547732 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14602771 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Melanoma, Cutaneous Malignant PMID:10465581|REF_RGD_ID:8547593 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms;protein:increased expression:serum PMID:12923961|REF_RGD_ID:2325163 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9000998 Brain Injuries ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:16230799|REF_RGD_ID:11522716 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:retina, choroid, sclera (rat) PMID:20497436|REF_RGD_ID:4145405 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9001472 Nasal Polyps ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium PMID:11593541|REF_RGD_ID:8547687 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9001600 Wounds and Injuries ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:10756 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (mouse) PMID:19828841|REF_RGD_ID:4145497 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Hypertension PMID:15007035|REF_RGD_ID:8547707 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:10235552|REF_RGD_ID:8547704 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Intestinal Reperfusion Injury;protein:increased expression:liver PMID:8780571|REF_RGD_ID:14402044 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:7884306|REF_RGD_ID:11520784 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:10756 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney (mouse) PMID:20447389|REF_RGD_ID:4145414 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19246972|REF_RGD_ID:2313470 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP: :p.K469E (rs5498) (human) PMID:18505543|REF_RGD_ID:2313475 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:18299691|REF_RGD_ID:2312766 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:7658704|REF_RGD_ID:11354983 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7686390|REF_RGD_ID:11520780 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16606632 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:11701617|REF_RGD_ID:13702911 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:8093459|REF_RGD_ID:8547692 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9002906 Multiple Organ Failure ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, intestine (mouse) PMID:19819333|REF_RGD_ID:4145501 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9002906 Multiple Organ Failure ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased secretion:serum (rat) PMID:20646933|REF_RGD_ID:4145375 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:19213042|REF_RGD_ID:8547577 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16497620|PMID:7902311 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:lung, endothelium (mouse) PMID:19968652|REF_RGD_ID:4145464 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:nasopharynx (human) PMID:19047814|REF_RGD_ID:4145520 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9003709 Mercury Poisoning ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased secretion:serum (rat) PMID:20508868|REF_RGD_ID:4145621 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9004009 Reperfusion Injury ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11557319|PMID:23743330 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9004484 Sepsis ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (rat) PMID:20451670|REF_RGD_ID:4145409 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9004610 Acute Lung Injury ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17973899|PMID:27525872 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:20569121|REF_RGD_ID:8547719 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9004898 Jaundice ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:19034056|REF_RGD_ID:4145521 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9005036 Bacteremia ISO RGD:10756 D RGD:9068941 20200609 RGD mRNA:increased expression:lung,thymus,spleen: PMID:24891762|REF_RGD_ID:11354979 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9005372 Inflammation ISO RGD:10756 D RGD:9068941 20200609 RGD associated with Sjogren's Syndrome PMID:15037117|REF_RGD_ID:8547696 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9005372 Inflammation ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:kidney (rat) PMID:20980457|REF_RGD_ID:4145328 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9005372 Inflammation ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19324842|PMID:23371441 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9005372 Inflammation treatment ISO RGD:10756 D RGD:9068941 20200609 RGD associated with myocardial infarction PMID:21658725|REF_RGD_ID:13702909 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9005372 Inflammation treatment ISO RGD:2857 D RGD:9068941 20200626 RGD PMID:20600813|REF_RGD_ID:4145532 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9005396 Intimal Hyperplasia treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:9118520|REF_RGD_ID:11520787 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10756 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:18093596|REF_RGD_ID:2306988 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18413153|REF_RGD_ID:2306987 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14871415|PMID:20388520|PMID:24513509 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:20136425|REF_RGD_ID:8547703 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9005647 Experimental Autoimmune Uveitis treatment ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:8100190|REF_RGD_ID:8158117 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9005930 Endotoxemia ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:19776691|REF_RGD_ID:4145502 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:carotid artery (rat) PMID:20368503|REF_RGD_ID:4145429 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9006642 Experimental Autoimmune Uveoretinitis treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:7909311|REF_RGD_ID:8547706 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19394054|REF_RGD_ID:2313467 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9006709 Primary Graft Dysfunction treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:10666412|PMID:22617707|REF_RGD_ID:11520779|REF_RGD_ID:8547722 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:22503847|REF_RGD_ID:7240537 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:9916118|REF_RGD_ID:8547701 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9007096 Stroke ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20083630 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9007096 Stroke treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:10066862|REF_RGD_ID:11522710 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9007156 Enteritis ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:intestinal mucosa (rat) PMID:20885979|REF_RGD_ID:4145336 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9007355 Hashimoto Disease ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:7626551|REF_RGD_ID:8547592 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24069166 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9007480 Hyperoxia ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:20237791|REF_RGD_ID:4145449 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:10201790|PMID:23706497|REF_RGD_ID:10402063|REF_RGD_ID:11520782 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9007651 Chronic Bronchitis ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:bronchial epithelium (rat) PMID:19507274|REF_RGD_ID:2308951 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9007692 Insulin Resistance ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased secretion:plasma (human) PMID:11782876|REF_RGD_ID:1625753 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9007692 Insulin Resistance ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19394054|REF_RGD_ID:2313467 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:12095141|REF_RGD_ID:11522715 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:heart (rat) PMID:20851484|REF_RGD_ID:4145348 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12087064 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:nasopharynx, secretion (human) PMID:20128420|REF_RGD_ID:4145459 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9008691 Liver Injury treatment ISO RGD:2857 D RGD:9068941 20200609 RGD associated with acute pancreatitis PMID:26586701|REF_RGD_ID:14402036 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12759764|PMID:17245593 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9009184 Eosinophilic Myocarditis treatment ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:9822282|REF_RGD_ID:13702914 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9009185 Lymphocytic Myocarditis ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:9205546|REF_RGD_ID:13703027 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9279 hyperhomocysteinemia ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:descending aorta, endothelial cells (rat) PMID:20871618|REF_RGD_ID:4144131 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9351 diabetes mellitus ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19394054|REF_RGD_ID:2313467 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta (rat) PMID:20388520|REF_RGD_ID:4145422 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24513509 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18299691|REF_RGD_ID:2312766 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9383 iridocyclitis ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R241G (human) PMID:20445114|REF_RGD_ID:8547694 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9538 multiple myeloma ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7686390|REF_RGD_ID:11520780 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9538 multiple myeloma treatment ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:7834632|REF_RGD_ID:11354981 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9563 bronchiectasis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17931847 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Retinal Detachment;protein:increased expression:vitreous humor PMID:10413701|REF_RGD_ID:8547581 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19373518|REF_RGD_ID:2313468 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16978373|REF_RGD_ID:1625758 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9970 obesity ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:submandibular gland (rat) PMID:20973827|REF_RGD_ID:4145329 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9970 obesity ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11782876 12268978 ICAM1 intercellular adhesion molecule 1 gene DOID:9970 obesity ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:20004360|REF_RGD_ID:4145463 12268989 NRXN1 neurexin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:734185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12268989 NRXN1 neurexin 1 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:734185 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome PMID:28492532|PMID:29924869 12268989 NRXN1 neurexin 1 gene DOID:0080495 ovarian dysgenesis 3 ISO RGD:734185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 3 PMID:28492532 12268989 NRXN1 neurexin 1 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:734185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:16199547|PMID:17034946|PMID:17576681|PMID:18179900|PMID:18414213|PMID:18490107|PMID:19896112|PMID:20347009|PMID:20468056|PMID:20848651|PMID:21288692|PMID:21424692|PMID:21681106|PMID:21827697|PMID:21964664|PMID:22405623|PMID:22504536|PMID:22617343|PMID:23207424|PMID:23472757|PMID:23495017|PMID:23533028|PMID:23849776|PMID:24832020|PMID:2504536|PMID:25149956|PMID:25326635|PMID:25408897|PMID:25418537|PMID:25533962|PMID:25614873|PMID:25640679|PMID:25661985|PMID:25741868|PMID:26185613|PMID:26325558|PMID:26350204|PMID:26467025|PMID:26742492|PMID:27195815|PMID:28289584|PMID:28492532|PMID:29221905|PMID:29924869|PMID:30031152|PMID:30564305|PMID:30709877|PMID:32942984|PMID:33004838|PMID:9536098 12268989 NRXN1 neurexin 1 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 susceptibility ISO RGD:734185 D RGD:7240710 20230517 OMIM 12268989 NRXN1 neurexin 1 gene DOID:1059 intellectual disability ISO RGD:734185 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability PMID:25741868|PMID:26350204|PMID:26467025|PMID:28492532 12268989 NRXN1 neurexin 1 gene DOID:12849 autistic disorder ISO RGD:734185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:25741868|PMID:30208311 12268989 NRXN1 neurexin 1 gene DOID:224 transient cerebral ischemia ISO RGD:628659 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA:decreased expression:cerebral cortex PMID:12437578|REF_RGD_ID:632385 12268989 NRXN1 neurexin 1 gene DOID:5419 schizophrenia ISO RGD:734185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12268989 NRXN1 neurexin 1 gene DOID:630 genetic disease ISO RGD:734185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17034946|PMID:17576681|PMID:18179900|PMID:18414213|PMID:18490107|PMID:19896112|PMID:20468056|PMID:21288692|PMID:21424692|PMID:21964664|PMID:22405623|PMID:22504536|PMID:22892527|PMID:23495017|PMID:23533028|PMID:23849776|PMID:24064682|PMID:24832020|PMID:25149956|PMID:25418537|PMID:25533962|PMID:25741868|PMID:26350204|PMID:26467025|PMID:28289584|PMID:28492532|PMID:29221905|PMID:29924869|PMID:30031152|PMID:30564305|PMID:32942984|PMID:33004838|PMID:9536098 12268989 NRXN1 neurexin 1 gene DOID:9001388 CHROMOSOME 2p16.3 DELETION SYNDROME ISO RGD:734185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chromosome 2p16.3 deletion syndrome PMID:18179900|PMID:18945720|PMID:21681106|PMID:23495017|PMID:25741868|PMID:28492532 12268989 NRXN1 neurexin 1 gene DOID:9001388 CHROMOSOME 2p16.3 DELETION SYNDROME susceptibility ISO RGD:734185 D RGD:7240710 20230517 OMIM 12268989 NRXN1 neurexin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12268989 NRXN1 neurexin 1 gene DOID:9005466 Language Development Disorders ISO RGD:734185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20157312 12268989 NRXN1 neurexin 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:734185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18057082 12268989 NRXN1 neurexin 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:734185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18057082 12268989 NRXN1 neurexin 1 gene DOID:9009160 SCHIZOPHRENIA 17 ISO RGD:734185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schizophrenia 17 PMID:21424692 12268989 NRXN1 neurexin 1 gene DOID:9970 obesity ISO RGD:734185 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 12269035 TTC39B tetratricopeptide repeat domain 39B gene DOID:630 genetic disease ISO RGD:1314048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269063 PGM3 phosphoglucomutase 3 gene DOID:0080545 hyper IgE syndrome ISO RGD:1603410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgE syndrome PMID:24698316|PMID:3500672 12269063 PGM3 phosphoglucomutase 3 gene DOID:0111953 immunodeficiency 23 ISO RGD:1603410 D RGD:7240710 20180130 OMIM 12269063 PGM3 phosphoglucomutase 3 gene DOID:0111953 immunodeficiency 23 ISO RGD:1603410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:1245758|PMID:14981714|PMID:16199547|PMID:17548465|PMID:17576681|PMID:24033266|PMID:24589341|PMID:24698316|PMID:24931394|PMID:25741868|PMID:26482871|PMID:28492532|PMID:28543917|PMID:32506361|PMID:33098103|PMID:3500672|PMID:9536098 12269063 PGM3 phosphoglucomutase 3 gene DOID:3307 teratoma ISO RGD:1603410 D RGD:9068941 20200609 RGD PMID:5259759|REF_RGD_ID:2299871 12269063 PGM3 phosphoglucomutase 3 gene DOID:4362 cervical cancer ISO RGD:1603410 D RGD:9068941 20200609 RGD PMID:508567|REF_RGD_ID:2299870 12269063 PGM3 phosphoglucomutase 3 gene DOID:627 severe combined immunodeficiency ISO RGD:1603410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 12269063 PGM3 phosphoglucomutase 3 gene DOID:630 genetic disease ISO RGD:1603410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12269089 ATP6V1C1 ATPase H+ transporting V1 subunit C1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1322350 D RGD:9068941 20200609 RGD PMID:26984774|REF_RGD_ID:14700648 12269089 ATP6V1C1 ATPase H+ transporting V1 subunit C1 gene DOID:0111590 Cohen syndrome ISO RGD:1322350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12269089 ATP6V1C1 ATPase H+ transporting V1 subunit C1 gene DOID:5517 stomach carcinoma ISO RGD:1322350 D RGD:9068941 20200609 RGD PMID:23722107|REF_RGD_ID:14700649 12269089 ATP6V1C1 ATPase H+ transporting V1 subunit C1 gene DOID:630 genetic disease ISO RGD:1322350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269089 ATP6V1C1 ATPase H+ transporting V1 subunit C1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1322351 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:24155661|REF_RGD_ID:14700647 12269106 MTMR7 myotubularin related protein 7 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1315320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 12269106 MTMR7 myotubularin related protein 7 gene DOID:630 genetic disease ISO RGD:1315320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269106 MTMR7 myotubularin related protein 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12269124 ECH1 enoyl-CoA hydratase 1 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:732279 D RGD:9068941 20200609 RGD PMID:31961704|REF_RGD_ID:21408561 12269124 ECH1 enoyl-CoA hydratase 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:732278 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12269124 ECH1 enoyl-CoA hydratase 1 gene DOID:10603 glucose intolerance treatment ISO RGD:732279 D RGD:9068941 20200609 RGD PMID:31961704|REF_RGD_ID:21408561 12269124 ECH1 enoyl-CoA hydratase 1 gene DOID:630 genetic disease ISO RGD:732278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269124 ECH1 enoyl-CoA hydratase 1 gene DOID:9007692 Insulin Resistance treatment ISO RGD:732279 D RGD:9068941 20200609 RGD PMID:31961704|REF_RGD_ID:21408561 12269124 ECH1 enoyl-CoA hydratase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732278 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12269124 ECH1 enoyl-CoA hydratase 1 gene DOID:9970 obesity treatment ISO RGD:732279 D RGD:9068941 20200609 RGD PMID:31961704|REF_RGD_ID:21408561 12269138 CRNKL1 crooked neck pre-mRNA splicing factor 1 gene DOID:1909 melanoma ISO RGD:733946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma PMID:26619011 12269138 CRNKL1 crooked neck pre-mRNA splicing factor 1 gene DOID:2513 basal cell carcinoma ISO RGD:733946 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.S128F (human) PMID:23774526|REF_RGD_ID:9850250 12269138 CRNKL1 crooked neck pre-mRNA splicing factor 1 gene DOID:630 genetic disease ISO RGD:733946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269138 CRNKL1 crooked neck pre-mRNA splicing factor 1 gene DOID:8923 skin melanoma ISO RGD:733946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:26619011 12269156 ETFRF1 electron transfer flavoprotein regulatory factor 1 gene DOID:630 genetic disease ISO RGD:1606960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269174 KDM1B lysine demethylase 1B gene DOID:0060224 atrial fibrillation ISO RGD:1321760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12269174 KDM1B lysine demethylase 1B gene DOID:630 genetic disease ISO RGD:1321760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269174 KDM1B lysine demethylase 1B gene DOID:768 retinoblastoma ISO RGD:1321760 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (human) PMID:16180235|REF_RGD_ID:9588276 12269199 PANK4 pantothenate kinase 4 (inactive) gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12269199 PANK4 pantothenate kinase 4 (inactive) gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:731329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12269199 PANK4 pantothenate kinase 4 (inactive) gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:731329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12269199 PANK4 pantothenate kinase 4 (inactive) gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:731329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12269199 PANK4 pantothenate kinase 4 (inactive) gene DOID:0110994 Joubert syndrome 25 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12269199 PANK4 pantothenate kinase 4 (inactive) gene DOID:0111934 immunodeficiency 38 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12269199 PANK4 pantothenate kinase 4 (inactive) gene DOID:0111935 immunodeficiency 16 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12269199 PANK4 pantothenate kinase 4 (inactive) gene DOID:630 genetic disease ISO RGD:731329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269199 PANK4 pantothenate kinase 4 (inactive) gene DOID:83 cataract ISO RGD:1550985 D RGD:9068941 20220825 MouseDO OMIM:601371 12269199 PANK4 pantothenate kinase 4 (inactive) gene DOID:9001743 Cataract 49 ISO RGD:731329 D RGD:7240710 20211110 OMIM 12269199 PANK4 pantothenate kinase 4 (inactive) gene DOID:9001743 Cataract 49 ISO RGD:731329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 49 PMID:30585370 12269199 PANK4 pantothenate kinase 4 (inactive) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12269199 PANK4 pantothenate kinase 4 (inactive) gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:731329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12269199 PANK4 pantothenate kinase 4 (inactive) gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12269222 ZDHHC1 zinc finger DHHC-type containing 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1348828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12269222 ZDHHC1 zinc finger DHHC-type containing 1 gene DOID:630 genetic disease ISO RGD:1348828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269238 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1314912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 12269238 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:1059 intellectual disability ISO RGD:1314912 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12269238 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:10952 nephritis ISO RGD:1306345 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic in humans PMID:11771960|REF_RGD_ID:10755697 12269238 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:10952 nephritis ISO RGD:1314912 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic in humans PMID:11771960|REF_RGD_ID:10755697 12269238 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:10952 nephritis ISO RGD:1314913 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic in humans PMID:11771960|REF_RGD_ID:10755697 12269238 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:576 proteinuria ISO RGD:1306345 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic in a mouse model PMID:16418806|REF_RGD_ID:10755721 12269238 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:576 proteinuria ISO RGD:1314912 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic in a mouse model PMID:16418806|REF_RGD_ID:10755721 12269238 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:576 proteinuria ISO RGD:1314913 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic in a mouse model PMID:16418806|REF_RGD_ID:10755721 12269238 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:65 connective tissue disease ISO RGD:1314912 D RGD:9068941 20200609 RGD PMID:2477448|REF_RGD_ID:10755695 12269238 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1306345 D RGD:9068941 20200609 RGD mouse model PMID:12571858|REF_RGD_ID:10755713 12269238 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1314912 D RGD:9068941 20200609 RGD mouse model PMID:12571858|REF_RGD_ID:10755713 12269238 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1314913 D RGD:9068941 20200609 RGD mouse model PMID:12571858|REF_RGD_ID:10755713 12269238 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:9261 nasopharynx carcinoma ISO RGD:1314912 D RGD:9068941 20200609 RGD mRNA:increased expression:nasopharynx (human) PMID:24080422|REF_RGD_ID:10755709 12269246 SIPA1L1 signal induced proliferation associated 1 like 1 gene DOID:630 genetic disease ISO RGD:733053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269246 SIPA1L1 signal induced proliferation associated 1 like 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733053 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12269246 SIPA1L1 signal induced proliferation associated 1 like 1 gene DOID:9004657 Weight Gain ISO RGD:733053 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12269246 SIPA1L1 signal induced proliferation associated 1 like 1 gene DOID:9775 diastolic heart failure ISO RGD:733053 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12269304 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:1347335 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17157164 12269304 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1347335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12269304 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:10652 Alzheimer's disease ISO RGD:1347335 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:23948885|REF_RGD_ID:10413860 12269304 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:10762 portal hypertension ISO RGD:631409 D RGD:9068941 20200609 RGD mRNA:decreased expression:stomach (rat) PMID:19383083|REF_RGD_ID:5686823 12269304 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:219 colon cancer ISO RGD:1347335 D RGD:9068941 20220811 RGD protein:increased expression:colon (human) PMID:16774932|REF_RGD_ID:153305944 12269304 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:2773 contact dermatitis ISO RGD:1347335 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12269304 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1347335 D RGD:9068941 20220519 RGD protein:increased expression:liver (human) PMID:24796583|REF_RGD_ID:152177907 12269304 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1347335 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 12269304 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:630 genetic disease ISO RGD:1347335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269304 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1347335 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood leukocyte: PMID:21417552|REF_RGD_ID:10402843 12269304 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347335 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 12269304 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1347335 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:frontal cortex (human) PMID:20886841|REF_RGD_ID:10412651 12269304 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1347335 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood (human) PMID:16139532|REF_RGD_ID:10429075 12269304 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1553279 D RGD:9068941 20200609 RGD mRNA:increased expression:tibial plateaux (mouse) PMID:9497939|REF_RGD_ID:10412655 12269304 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1347335 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:23948885|REF_RGD_ID:10413860 12269304 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12269304 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:631409 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain (rat) PMID:21104931|REF_RGD_ID:5686396 12269304 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:9008138 Ductal Carcinoma ISO RGD:631409 D RGD:9068941 20200609 RGD PMID:19322027|REF_RGD_ID:5686847 12269304 HSP90AA1 heat shock protein 90 alpha family class A member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1347335 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 12269317 LOC482176 transmembrane protease serine 11E gene DOID:630 genetic disease ISO RGD:1606302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269317 LOC482176 transmembrane protease serine 11E gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1606302 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12269332 TMPO thymopoietin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:735785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:23861362|PMID:24033266|PMID:24375709|PMID:24448499|PMID:25741868|PMID:28074886|PMID:28492532|PMID:30327538 12269332 TMPO thymopoietin gene DOID:0050700 cardiomyopathy ISO RGD:735785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:28492532 12269332 TMPO thymopoietin gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:735785 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 PMID:16247757|PMID:17576681|PMID:23861362|PMID:24033266|PMID:24375709|PMID:24448499|PMID:25741868|PMID:27662471|PMID:28074886|PMID:28166811|PMID:28492532|PMID:28798025|PMID:30327538|PMID:9536098 12269332 TMPO thymopoietin gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:735785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:16247757|PMID:17576681|PMID:23861362|PMID:24033266|PMID:24375709|PMID:24448499|PMID:25741868|PMID:27662471|PMID:28074886|PMID:28492532|PMID:28798025|PMID:30327538|PMID:9536098 12269332 TMPO thymopoietin gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:735785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:16247757|PMID:17576681|PMID:23861362|PMID:24033266|PMID:24375709|PMID:24448499|PMID:25741868|PMID:27662471|PMID:28074886|PMID:28492532|PMID:28798025|PMID:30327538|PMID:31983221|PMID:9536098 12269332 TMPO thymopoietin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:735785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 12269332 TMPO thymopoietin gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:735785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:16247757|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12269332 TMPO thymopoietin gene DOID:0110452 dilated cardiomyopathy 1T ISO RGD:735785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1T PMID:16247757|PMID:23861362|PMID:24033266|PMID:24375709|PMID:24448499|PMID:25741868|PMID:28074886|PMID:28492532|PMID:30327538 12269332 TMPO thymopoietin gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:735785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12269332 TMPO thymopoietin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 12269332 TMPO thymopoietin gene DOID:12930 dilated cardiomyopathy ISO RGD:735785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16247757|PMID:23861362|PMID:24033266|PMID:24375709|PMID:24448499|PMID:25741868|PMID:28074886|PMID:28492532|PMID:30327538 12269332 TMPO thymopoietin gene DOID:630 genetic disease ISO RGD:735785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16247757|PMID:23861362|PMID:24033266|PMID:24375709|PMID:24448499|PMID:25741868|PMID:27662471|PMID:28074886|PMID:28492532|PMID:28798025|PMID:30327538 12269332 TMPO thymopoietin gene DOID:7148 rheumatoid arthritis ISO RGD:735785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 12269332 TMPO thymopoietin gene DOID:9007102 Myocardial Ischemia ISO RGD:735785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12269370 ERC2 ELKS/RAB6-interacting/CAST family member 2 gene DOID:630 genetic disease ISO RGD:1607056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269416 CNTN5 contactin 5 gene DOID:10487 Hirschsprung's disease ISO RGD:734326 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 12269416 CNTN5 contactin 5 gene DOID:1059 intellectual disability ISO RGD:734326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12269416 CNTN5 contactin 5 gene DOID:12704 ataxia telangiectasia ISO RGD:734326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12269416 CNTN5 contactin 5 gene DOID:12849 autistic disorder ISO RGD:734326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12269416 CNTN5 contactin 5 gene DOID:630 genetic disease ISO RGD:734326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269460 ENKUR enkurin, TRPC channel interacting protein gene DOID:630 genetic disease ISO RGD:1320397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269472 CIMAP1C ciliary microtubule associated protein 1C gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1348133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 12269472 CIMAP1C ciliary microtubule associated protein 1C gene DOID:1826 epilepsy ISO RGD:1348133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12269472 CIMAP1C ciliary microtubule associated protein 1C gene DOID:2717 Bloom syndrome ISO RGD:1348133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12269472 CIMAP1C ciliary microtubule associated protein 1C gene DOID:5419 schizophrenia ISO RGD:1348133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12269472 CIMAP1C ciliary microtubule associated protein 1C gene DOID:630 genetic disease ISO RGD:1348133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269472 CIMAP1C ciliary microtubule associated protein 1C gene DOID:9256 colorectal cancer ISO RGD:1348133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12269481 NEDD9 neural precursor cell expressed, developmentally down-regulated 9 gene DOID:2377 multiple sclerosis ISO RGD:1314803 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 12269481 NEDD9 neural precursor cell expressed, developmentally down-regulated 9 gene DOID:630 genetic disease ISO RGD:1314803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269496 SLC6A7 solute carrier family 6 member 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:734004 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12269496 SLC6A7 solute carrier family 6 member 7 gene DOID:630 genetic disease ISO RGD:734004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269496 SLC6A7 solute carrier family 6 member 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734004 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12269515 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1321777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12269515 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1321777 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12269515 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1321777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12269515 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1321777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12269515 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1321777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12269515 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1321777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12269515 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0111934 immunodeficiency 38 ISO RGD:1321777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12269515 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0111935 immunodeficiency 16 ISO RGD:1321777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12269515 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:630 genetic disease ISO RGD:1321777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269515 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12269515 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1321777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12269515 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1321777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12269544 CYSRT1 cysteine rich tail 1 gene DOID:0050777 Joubert syndrome ISO RGD:1603334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12269544 CYSRT1 cysteine rich tail 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1603334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12269544 CYSRT1 cysteine rich tail 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1603334 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12269544 CYSRT1 cysteine rich tail 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1603334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12269544 CYSRT1 cysteine rich tail 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1603334 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12269544 CYSRT1 cysteine rich tail 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1603334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12269544 CYSRT1 cysteine rich tail 1 gene DOID:1826 epilepsy ISO RGD:1603334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12269544 CYSRT1 cysteine rich tail 1 gene DOID:630 genetic disease ISO RGD:1603334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269544 CYSRT1 cysteine rich tail 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1603334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12269557 FCRLB Fc receptor like B gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1605583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 12269557 FCRLB Fc receptor like B gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1605583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12269557 FCRLB Fc receptor like B gene DOID:1540 parathyroid carcinoma ISO RGD:1605583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12269557 FCRLB Fc receptor like B gene DOID:630 genetic disease ISO RGD:1605583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269557 FCRLB Fc receptor like B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12269564 NR2F6 nuclear receptor subfamily 2 group F member 6 gene DOID:289 endometriosis ISO RGD:733507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12269564 NR2F6 nuclear receptor subfamily 2 group F member 6 gene DOID:630 genetic disease ISO RGD:733507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269564 NR2F6 nuclear receptor subfamily 2 group F member 6 gene DOID:9008939 Breast Neoplasms ISO RGD:733507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11850205 12269572 ABCA9 ATP binding cassette subfamily A member 9 gene DOID:630 genetic disease ISO RGD:1314254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269572 ABCA9 ATP binding cassette subfamily A member 9 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1314254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12269630 LOC612523 EP300-interacting inhibitor of differentiation 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1351030 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12269630 LOC612523 EP300-interacting inhibitor of differentiation 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1351030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12269630 LOC612523 EP300-interacting inhibitor of differentiation 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1351030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12269630 LOC612523 EP300-interacting inhibitor of differentiation 2 gene DOID:2340 craniosynostosis ISO RGD:1351030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12269630 LOC612523 EP300-interacting inhibitor of differentiation 2 gene DOID:630 genetic disease ISO RGD:1351030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269630 LOC612523 EP300-interacting inhibitor of differentiation 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1351030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12269630 LOC612523 EP300-interacting inhibitor of differentiation 2 gene DOID:9269 maple syrup urine disease ISO RGD:1351030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12269630 LOC612523 EP300-interacting inhibitor of differentiation 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351030 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12269641 NEUROG2 neurogenin 2 gene DOID:12271 aniridia ISO RGD:1319191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 12269641 NEUROG2 neurogenin 2 gene DOID:630 genetic disease ISO RGD:1319191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269649 OR8J3 olfactory receptor family 8 subfamily J member 3 gene DOID:1059 intellectual disability ISO RGD:1342544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12269649 OR8J3 olfactory receptor family 8 subfamily J member 3 gene DOID:630 genetic disease ISO RGD:1342544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269652 BLCAP BLCAP apoptosis inducing factor gene DOID:2234 focal epilepsy ISO RGD:1347383 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12269652 BLCAP BLCAP apoptosis inducing factor gene DOID:630 genetic disease ISO RGD:1347383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269652 BLCAP BLCAP apoptosis inducing factor gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1347383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 12269661 SHD Src homology 2 domain containing transforming protein D gene DOID:13938 amenorrhea ISO RGD:1601984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12269661 SHD Src homology 2 domain containing transforming protein D gene DOID:630 genetic disease ISO RGD:1601984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269671 SLC5A4 solute carrier family 5 member 4 gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1315814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 12269671 SLC5A4 solute carrier family 5 member 4 gene DOID:630 genetic disease ISO RGD:1315814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269671 SLC5A4 solute carrier family 5 member 4 gene DOID:9001750 Glucose-Galactose Malabsorption ISO RGD:1315814 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption PMID:28492532 12269688 MIR24-2 microRNA mir-24-2 gene DOID:9008939 Breast Neoplasms ISO RGD:1344925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21463514 12269691 MIR487B microRNA mir-487b gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1606044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 12269691 MIR487B microRNA mir-487b gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1606044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12269691 MIR487B microRNA mir-487b gene DOID:9002170 Experimental Neoplasms ISO RGD:1606044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12269691 MIR487B microRNA mir-487b gene DOID:9005172 Lung Neoplasms ISO RGD:1606044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12269691 MIR487B microRNA mir-487b gene DOID:9007787 Carcinoid Tumor ISO RGD:1606044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12269691 MIR487B microRNA mir-487b gene DOID:9352 type 2 diabetes mellitus ISO RGD:1606044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12269767 TLR4 toll like receptor 4 gene DOID:0050073 invasive aspergillosis susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.D299G(human) PMID:18275280|REF_RGD_ID:5130863 12269767 TLR4 toll like receptor 4 gene DOID:0050127 sinusitis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium: PMID:14743629|REF_RGD_ID:8552991 12269767 TLR4 toll like receptor 4 gene DOID:0050127 sinusitis ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Pneumococal Infections; PMID:16301373|REF_RGD_ID:7800729 12269767 TLR4 toll like receptor 4 gene DOID:0050855 renal fibrosis ISO RGD:3870 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:22777483|REF_RGD_ID:7207895 12269767 TLR4 toll like receptor 4 gene DOID:0060180 colitis ISO RGD:3870 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:19002562|REF_RGD_ID:2312573 12269767 TLR4 toll like receptor 4 gene DOID:0060180 colitis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:19924809|REF_RGD_ID:7794773 12269767 TLR4 toll like receptor 4 gene DOID:0060189 ileitis ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:18266231|REF_RGD_ID:2312714 12269767 TLR4 toll like receptor 4 gene DOID:0060189 ileitis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:17255219|REF_RGD_ID:7241089 12269767 TLR4 toll like receptor 4 gene DOID:0060322 mastoiditis ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: PMID:24690988|REF_RGD_ID:8552995 12269767 TLR4 toll like receptor 4 gene DOID:0060496 respiratory allergy ISO RGD:737013 D RGD:9068941 20200827 CTD CTD Direct Evidence: marker/mechanism PMID:10835634 12269767 TLR4 toll like receptor 4 gene DOID:0060496 respiratory allergy susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms,haplotype: :−2027A>G, ¿1608T>C(human) PMID:21704886|REF_RGD_ID:7800728 12269767 TLR4 toll like receptor 4 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:cornea: PMID:17667620|REF_RGD_ID:8552970 12269767 TLR4 toll like receptor 4 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:17686871|REF_RGD_ID:7794851 12269767 TLR4 toll like receptor 4 gene DOID:0080176 meningococcal meningitis susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :896A>G(rs4986790)(human) PMID:23691182|REF_RGD_ID:7800668 12269767 TLR4 toll like receptor 4 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:23301938|REF_RGD_ID:7777122 12269767 TLR4 toll like receptor 4 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:22253482|REF_RGD_ID:14700656 12269767 TLR4 toll like receptor 4 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:25413054|REF_RGD_ID:14700658 12269767 TLR4 toll like receptor 4 gene DOID:0080784 urinary tract infection susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:snp:cds:p.D299G (human) PMID:19543401|REF_RGD_ID:7246906 12269767 TLR4 toll like receptor 4 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:16524509|REF_RGD_ID:2312724 12269767 TLR4 toll like receptor 4 gene DOID:0081013 severe COVID-19 ISO RGD:737013 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 12269767 TLR4 toll like receptor 4 gene DOID:10140 dry eye syndrome ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:23372055|REF_RGD_ID:8552916 12269767 TLR4 toll like receptor 4 gene DOID:10140 dry eye syndrome ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:23372055|REF_RGD_ID:8552916 12269767 TLR4 toll like receptor 4 gene DOID:10223 dermatomyositis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:muscle PMID:19953283|REF_RGD_ID:7794747 12269767 TLR4 toll like receptor 4 gene DOID:10310 viral meningitis ISO RGD:737014 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:12781911|REF_RGD_ID:7794740 12269767 TLR4 toll like receptor 4 gene DOID:10591 pre-eclampsia ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:16157088|REF_RGD_ID:1580682 12269767 TLR4 toll like receptor 4 gene DOID:106 pleural tuberculosis ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:18295348|REF_RGD_ID:4144193 12269767 TLR4 toll like receptor 4 gene DOID:10652 Alzheimer's disease ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:16157451|REF_RGD_ID:1580680 12269767 TLR4 toll like receptor 4 gene DOID:10690 mastitis ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:mammary gland: PMID:21691936|REF_RGD_ID:7777124 12269767 TLR4 toll like receptor 4 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype:multiple: PMID:22831837|REF_RGD_ID:7794768 12269767 TLR4 toll like receptor 4 gene DOID:1074 kidney failure ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:16177646|REF_RGD_ID:7241085 12269767 TLR4 toll like receptor 4 gene DOID:1074 kidney failure ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27585667 12269767 TLR4 toll like receptor 4 gene DOID:10754 otitis media ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:middle ear: PMID:23380629|REF_RGD_ID:7800666 12269767 TLR4 toll like receptor 4 gene DOID:10754 otitis media ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: PMID:24690988|REF_RGD_ID:8552995 12269767 TLR4 toll like receptor 4 gene DOID:10754 otitis media ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Haemophilus Infections; PMID:19586996|REF_RGD_ID:7777086 12269767 TLR4 toll like receptor 4 gene DOID:10763 hypertension ISO RGD:737013 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:27292124|PMID:32147540 12269767 TLR4 toll like receptor 4 gene DOID:10825 essential hypertension ISO RGD:737013 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 12269767 TLR4 toll like receptor 4 gene DOID:10964 cholesteatoma of middle ear ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: PMID:24690988|REF_RGD_ID:8552995 12269767 TLR4 toll like receptor 4 gene DOID:11054 urinary bladder cancer treatment ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:19788935|REF_RGD_ID:7240556 12269767 TLR4 toll like receptor 4 gene DOID:11121 pulpitis ISO RGD:3870 D RGD:9068941 20200609 RGD protein:increased expression:ganglion: PMID:24267924|REF_RGD_ID:7777125 12269767 TLR4 toll like receptor 4 gene DOID:11168 anogenital venereal wart ISO RGD:737013 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 12269767 TLR4 toll like receptor 4 gene DOID:11204 allergic conjunctivitis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:conjunctiva: PMID:16023216|REF_RGD_ID:7794849 12269767 TLR4 toll like receptor 4 gene DOID:11204 allergic conjunctivitis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:21391988|PMID:21820713|REF_RGD_ID:7777131|REF_RGD_ID:7794770 12269767 TLR4 toll like receptor 4 gene DOID:11396 pulmonary edema ISO RGD:737014 D RGD:9068941 20200609 RGD associated with reperfusion injury PMID:19376887|REF_RGD_ID:4144136 12269767 TLR4 toll like receptor 4 gene DOID:11446 sciatic neuropathy ISO RGD:737014 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord: PMID:18615568|REF_RGD_ID:7815041 12269767 TLR4 toll like receptor 4 gene DOID:11506 suppurative otitis media ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:mucosa: PMID:22883581|REF_RGD_ID:7800662 12269767 TLR4 toll like receptor 4 gene DOID:11823 hepatorenal syndrome ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:18093430|REF_RGD_ID:4144102 12269767 TLR4 toll like receptor 4 gene DOID:1214 tympanosclerosis ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:D299G(human) PMID:19398177|REF_RGD_ID:7800656 12269767 TLR4 toll like receptor 4 gene DOID:12306 vitiligo susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.D299G(human) PMID:22429552|REF_RGD_ID:7777152 12269767 TLR4 toll like receptor 4 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNPs:cds:p.D299G, T399I (human) PMID:17709532|REF_RGD_ID:4144161 12269767 TLR4 toll like receptor 4 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:19019963|REF_RGD_ID:4889534 12269767 TLR4 toll like receptor 4 gene DOID:1273 respiratory syncytial virus infectious disease no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.D299G (human) PMID:17449325|REF_RGD_ID:4144164 12269767 TLR4 toll like receptor 4 gene DOID:1273 respiratory syncytial virus infectious disease susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.D259G, T359I (human) PMID:17264400|REF_RGD_ID:4144167 12269767 TLR4 toll like receptor 4 gene DOID:13001 carotid stenosis treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:22167462|REF_RGD_ID:7241095 12269767 TLR4 toll like receptor 4 gene DOID:13078 eumycotic mycetoma ISO RGD:737014 D RGD:9068941 20200609 RGD mRNA:decreased expression:footpad: PMID:21205004|REF_RGD_ID:7794752 12269767 TLR4 toll like receptor 4 gene DOID:13141 uveitis ISO RGD:3870 D RGD:9068941 20200609 RGD protein:increased expression:iris PMID:19347047|REF_RGD_ID:2312506 12269767 TLR4 toll like receptor 4 gene DOID:13241 Behcet's disease ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:intestine: PMID:18336589|REF_RGD_ID:8552915 12269767 TLR4 toll like receptor 4 gene DOID:13241 Behcet's disease ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:mononulcear cell: PMID:18234118|REF_RGD_ID:7777175 12269767 TLR4 toll like receptor 4 gene DOID:13241 Behcet's disease no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism: :1896A>G,11196C>T(human) PMID:19796535|REF_RGD_ID:8552888 12269767 TLR4 toll like receptor 4 gene DOID:13241 Behcet's disease susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP:3'UTR: rs7037117(human) PMID:18408113|REF_RGD_ID:7777176 12269767 TLR4 toll like receptor 4 gene DOID:13375 temporal arteritis no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism: :896A>G,1196C>T(human) PMID:21586524|REF_RGD_ID:7777159 12269767 TLR4 toll like receptor 4 gene DOID:13375 temporal arteritis susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism: :896A>G(rs4986790)(human) PMID:19531762|REF_RGD_ID:7777158 12269767 TLR4 toll like receptor 4 gene DOID:13378 Kawasaki disease ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:monocyte: PMID:18353240|REF_RGD_ID:7777156 12269767 TLR4 toll like receptor 4 gene DOID:13544 low tension glaucoma no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms:multiple: PMID:21921986|REF_RGD_ID:7794769 12269767 TLR4 toll like receptor 4 gene DOID:13544 low tension glaucoma susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype:multiple: PMID:22831837|REF_RGD_ID:7794768 12269767 TLR4 toll like receptor 4 gene DOID:13619 extrahepatic cholestasis ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 12269767 TLR4 toll like receptor 4 gene DOID:13641 exfoliation syndrome susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:haplotype:: PMID:22831837|REF_RGD_ID:7794768 12269767 TLR4 toll like receptor 4 gene DOID:1407 anterior uveitis ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:17389503|REF_RGD_ID:8552823 12269767 TLR4 toll like receptor 4 gene DOID:1407 anterior uveitis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:21264236|REF_RGD_ID:7794836 12269767 TLR4 toll like receptor 4 gene DOID:14484 sporotrichosis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:19740386|REF_RGD_ID:7794681 12269767 TLR4 toll like receptor 4 gene DOID:1485 cystic fibrosis ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:20717938|REF_RGD_ID:4144105 12269767 TLR4 toll like receptor 4 gene DOID:1485 cystic fibrosis severity ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:20522639|REF_RGD_ID:4144179 12269767 TLR4 toll like receptor 4 gene DOID:1495 cystic echinococcosis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood monocyte: PMID:21923667|REF_RGD_ID:18182935 12269767 TLR4 toll like receptor 4 gene DOID:1612 breast cancer no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP: :c.896A>G(human) PMID:19810822|REF_RGD_ID:7794746 12269767 TLR4 toll like receptor 4 gene DOID:1612 breast cancer susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism: :3725G>C(human) PMID:23510418|REF_RGD_ID:7777160 12269767 TLR4 toll like receptor 4 gene DOID:1612 breast cancer susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.N299G(human) PMID:22560646|REF_RGD_ID:7794753 12269767 TLR4 toll like receptor 4 gene DOID:1749 squamous cell carcinoma ISO RGD:737013 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 12269767 TLR4 toll like receptor 4 gene DOID:1909 melanoma ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 12269767 TLR4 toll like receptor 4 gene DOID:1909 melanoma ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms:exons:p.D299G (896A>G)(human;) PMID:22552381|REF_RGD_ID:7777154 12269767 TLR4 toll like receptor 4 gene DOID:1936 atherosclerosis ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12124407 12269767 TLR4 toll like receptor 4 gene DOID:2297 leptospirosis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:16428731|PMID:19635914|REF_RGD_ID:7240557|REF_RGD_ID:7241090 12269767 TLR4 toll like receptor 4 gene DOID:2316 brain ischemia no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.N299G, p.T399I (human) PMID:15258789|REF_RGD_ID:1580737 12269767 TLR4 toll like receptor 4 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP: :c.896A>G (human) PMID:16890863|REF_RGD_ID:1624159 12269767 TLR4 toll like receptor 4 gene DOID:2377 multiple sclerosis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebrospinal fluid, mononuclear cell PMID:18644848|REF_RGD_ID:2312575 12269767 TLR4 toll like receptor 4 gene DOID:2773 contact dermatitis ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18725520 12269767 TLR4 toll like receptor 4 gene DOID:2841 asthma ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNPs:: PMID:20685742|REF_RGD_ID:4144171 12269767 TLR4 toll like receptor 4 gene DOID:2841 asthma ISO RGD:737013 D RGD:9068941 20200609 RGD protein:decreased expression:leukocytes, mononuclear PMID:19067129|REF_RGD_ID:4144190 12269767 TLR4 toll like receptor 4 gene DOID:2841 asthma ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:19330007|PMID:20628601|REF_RGD_ID:4144141|REF_RGD_ID:4144176 12269767 TLR4 toll like receptor 4 gene DOID:2841 asthma no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNPs: :rs10983755, rs1927914 (human) PMID:19159017|REF_RGD_ID:4144188 12269767 TLR4 toll like receptor 4 gene DOID:2841 asthma severity ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:c.896A>G, 1196C>T (human) PMID:16266379|REF_RGD_ID:4144198 12269767 TLR4 toll like receptor 4 gene DOID:2841 asthma susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:Polymorphism:cds:p.D299G (human) PMID:15356557|REF_RGD_ID:4144817 12269767 TLR4 toll like receptor 4 gene DOID:2913 acute pancreatitis ISO RGD:737014 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:18436016|REF_RGD_ID:14697701 12269767 TLR4 toll like receptor 4 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:737014 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (mouse) PMID:18256364|REF_RGD_ID:7246909 12269767 TLR4 toll like receptor 4 gene DOID:2921 glomerulonephritis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:16849506|PMID:20844472|REF_RGD_ID:4144104|REF_RGD_ID:7241071 12269767 TLR4 toll like receptor 4 gene DOID:2957 pulmonary tuberculosis ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:18008256|REF_RGD_ID:4144205 12269767 TLR4 toll like receptor 4 gene DOID:2957 pulmonary tuberculosis severity ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds: p. D299F, T399I (human) PMID:20403143|REF_RGD_ID:4144106 12269767 TLR4 toll like receptor 4 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP:intron: rs5030729 (human) PMID:19575238|REF_RGD_ID:4144122 12269767 TLR4 toll like receptor 4 gene DOID:2987 familial Mediterranean fever susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.D299G(human) PMID:19445990|REF_RGD_ID:7794686 12269767 TLR4 toll like receptor 4 gene DOID:3021 acute kidney failure ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29286200 12269767 TLR4 toll like receptor 4 gene DOID:3021 acute kidney failure ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:16638912|REF_RGD_ID:7241084 12269767 TLR4 toll like receptor 4 gene DOID:3021 acute kidney failure ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Sepsis PMID:22655058|REF_RGD_ID:7207898 12269767 TLR4 toll like receptor 4 gene DOID:3021 acute kidney failure treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:22266601|REF_RGD_ID:6892690 12269767 TLR4 toll like receptor 4 gene DOID:3042 allergic contact dermatitis ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:20711192|REF_RGD_ID:7777133 12269767 TLR4 toll like receptor 4 gene DOID:3042 allergic contact dermatitis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:18725520|REF_RGD_ID:7794737 12269767 TLR4 toll like receptor 4 gene DOID:305 carcinoma ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 12269767 TLR4 toll like receptor 4 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737013 D RGD:9068941 20200609 RGD decreased expression:protein:monocyte PMID:19080469|REF_RGD_ID:4144145 12269767 TLR4 toll like receptor 4 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism:blood cells PMID:20169003|REF_RGD_ID:4144119 12269767 TLR4 toll like receptor 4 gene DOID:3310 atopic dermatitis ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism: :896G>A(human) PMID:23821954|REF_RGD_ID:7794689 12269767 TLR4 toll like receptor 4 gene DOID:3310 atopic dermatitis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:blood cell: PMID:19764566|REF_RGD_ID:7794745 12269767 TLR4 toll like receptor 4 gene DOID:3393 coronary artery disease ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20524934 12269767 TLR4 toll like receptor 4 gene DOID:3393 coronary artery disease ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:15632890|REF_RGD_ID:1580736 12269767 TLR4 toll like receptor 4 gene DOID:3407 carotid artery disease ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:15258789|REF_RGD_ID:1580737 12269767 TLR4 toll like receptor 4 gene DOID:3770 pulmonary fibrosis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:20610040|REF_RGD_ID:4144177 12269767 TLR4 toll like receptor 4 gene DOID:3770 pulmonary fibrosis ISO RGD:737014 D RGD:9068941 20200609 RGD associated with acute lung injury PMID:20017955|REF_RGD_ID:4144120 12269767 TLR4 toll like receptor 4 gene DOID:3910 lung adenocarcinoma ISO RGD:737013 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 12269767 TLR4 toll like receptor 4 gene DOID:399 tuberculosis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:12218133|REF_RGD_ID:4144821 12269767 TLR4 toll like receptor 4 gene DOID:4448 macular degeneration ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829498 12269767 TLR4 toll like receptor 4 gene DOID:4448 macular degeneration no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP:: rs4986790(human) PMID:19628747|REF_RGD_ID:7794842 12269767 TLR4 toll like receptor 4 gene DOID:4448 macular degeneration no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNPs: :p.D299G,T399I(human) PMID:18172114|REF_RGD_ID:7794843 12269767 TLR4 toll like receptor 4 gene DOID:4448 macular degeneration susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.D299G(human) PMID:15829498|REF_RGD_ID:7794837 12269767 TLR4 toll like receptor 4 gene DOID:4481 allergic rhinitis ISO RGD:737013 D RGD:9068941 20200609 RGD protein:decreased expression:nasal mucosa: PMID:22577387|REF_RGD_ID:7800740 12269767 TLR4 toll like receptor 4 gene DOID:4481 allergic rhinitis ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:nasal lavage,leukocyte, bone marrow: PMID:22555057|REF_RGD_ID:8552993 12269767 TLR4 toll like receptor 4 gene DOID:4481 allergic rhinitis no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism: :4216G>C(human) PMID:19763595|REF_RGD_ID:4145354 12269767 TLR4 toll like receptor 4 gene DOID:4481 allergic rhinitis severity ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.D299G(human) PMID:22402138|REF_RGD_ID:7800732 12269767 TLR4 toll like receptor 4 gene DOID:4481 allergic rhinitis susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP: :rs1927911(human) PMID:23639307|REF_RGD_ID:7800736 12269767 TLR4 toll like receptor 4 gene DOID:4481 allergic rhinitis treatment ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:17069098|REF_RGD_ID:7800738 12269767 TLR4 toll like receptor 4 gene DOID:4677 keratitis ISO RGD:737013 D RGD:9068941 20200609 RGD associated with Eye Infections, Fungal;mRNA,protein:increased expression:cornea: PMID:18398706|REF_RGD_ID:8552914 12269767 TLR4 toll like receptor 4 gene DOID:4677 keratitis ISO RGD:737013 D RGD:9068941 20200609 RGD associated with Eye Infections,Fungal;DNA:SNP::rs10983755(human) PMID:24074256|REF_RGD_ID:7794785 12269767 TLR4 toll like receptor 4 gene DOID:4677 keratitis ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Eye Infections, Fungal; mRNA,protein:increased expression:macrophage: PMID:19074808|REF_RGD_ID:7794779 12269767 TLR4 toll like receptor 4 gene DOID:4677 keratitis ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Eye Infections,Fungal; PMID:19875664|REF_RGD_ID:7794845 12269767 TLR4 toll like receptor 4 gene DOID:4914 esophagus adenocarcinoma ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 12269767 TLR4 toll like receptor 4 gene DOID:4989 pancreatitis ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:19260515|REF_RGD_ID:2312507 12269767 TLR4 toll like receptor 4 gene DOID:4989 pancreatitis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:19201771|REF_RGD_ID:4144143 12269767 TLR4 toll like receptor 4 gene DOID:5082 liver cirrhosis ISO RGD:3870 D RGD:9068941 20200609 RGD protein:increased expression:intestine: PMID:27061671|REF_RGD_ID:14697732 12269767 TLR4 toll like receptor 4 gene DOID:5082 liver cirrhosis treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:26809353|REF_RGD_ID:14700654 12269767 TLR4 toll like receptor 4 gene DOID:5082 liver cirrhosis treatment ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:20006396|REF_RGD_ID:18182934 12269767 TLR4 toll like receptor 4 gene DOID:552 pneumonia ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26882889 12269767 TLR4 toll like receptor 4 gene DOID:552 pneumonia ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:20357263|REF_RGD_ID:4142858 12269767 TLR4 toll like receptor 4 gene DOID:5614 eye disease ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:nasal cavity mucosa: PMID:16146574|REF_RGD_ID:8552913 12269767 TLR4 toll like receptor 4 gene DOID:5844 myocardial infarction ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:15864121|REF_RGD_ID:1580734 12269767 TLR4 toll like receptor 4 gene DOID:5844 myocardial infarction ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs1927911, minor allele associated with decreased risk PMID:18549840|REF_RGD_ID:5562819 12269767 TLR4 toll like receptor 4 gene DOID:630 genetic disease ISO RGD:737013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269767 TLR4 toll like receptor 4 gene DOID:6432 pulmonary hypertension ISO RGD:737014 D RGD:9068941 20200609 RGD associated with anoxia PMID:20205596|REF_RGD_ID:4144108 12269767 TLR4 toll like receptor 4 gene DOID:6543 acne no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms:exons:p.D299G,T399I(human) PMID:17033191|REF_RGD_ID:7794754 12269767 TLR4 toll like receptor 4 gene DOID:684 hepatocellular carcinoma ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27022031 12269767 TLR4 toll like receptor 4 gene DOID:684 hepatocellular carcinoma ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:28578348|REF_RGD_ID:14700552 12269767 TLR4 toll like receptor 4 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP: :rs1057317(human) PMID:25179842|REF_RGD_ID:14700557 12269767 TLR4 toll like receptor 4 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :multiples PMID:21559380|REF_RGD_ID:14700558 12269767 TLR4 toll like receptor 4 gene DOID:7147 ankylosing spondylitis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:blood cell: PMID:20952467|REF_RGD_ID:7794744 12269767 TLR4 toll like receptor 4 gene DOID:783 end stage renal disease ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:20729266|REF_RGD_ID:7240546 12269767 TLR4 toll like receptor 4 gene DOID:824 periodontitis ISO RGD:737013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pericementitis PMID:10835634|PMID:12124407|PMID:15547160|PMID:15829498|PMID:16879199|PMID:17704786|PMID:26079505|PMID:26174031 12269767 TLR4 toll like receptor 4 gene DOID:848 arthritis susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:haplotype: : PMID:19395541|REF_RGD_ID:7777177 12269767 TLR4 toll like receptor 4 gene DOID:850 lung disease ISO RGD:3870 D RGD:9068941 20200609 RGD Acute Lung Injury; mRNA, protein:increased expression:lung PMID:19930876|REF_RGD_ID:4144082 12269767 TLR4 toll like receptor 4 gene DOID:850 lung disease ISO RGD:3870 D RGD:9068941 20200609 RGD associated with Pancreatitis, Acute Necrotizing PMID:16286274|REF_RGD_ID:2312725 12269767 TLR4 toll like receptor 4 gene DOID:850 lung disease ISO RGD:737014 D RGD:9068941 20200609 RGD acute lung injury PMID:15731076|REF_RGD_ID:4144789 12269767 TLR4 toll like receptor 4 gene DOID:850 lung disease ISO RGD:737014 D RGD:9068941 20200609 RGD acute lung injury associated with Hemorrhagic shock; mRNA:increased expression:lung PMID:18827744|REF_RGD_ID:4144149 12269767 TLR4 toll like receptor 4 gene DOID:850 lung disease ISO RGD:737014 D RGD:9068941 20200609 RGD lung injury associated with pancreatitis; PMID:19201771|REF_RGD_ID:4144143 12269767 TLR4 toll like receptor 4 gene DOID:850 lung disease ISO RGD:737014 D RGD:9068941 20200609 RGD ventilator-induced lung injury PMID:20683250|REF_RGD_ID:4143249 12269767 TLR4 toll like receptor 4 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum PMID:19608731|REF_RGD_ID:5128779 12269767 TLR4 toll like receptor 4 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:3870 D RGD:9068941 20200609 RGD protein:increased expression:ileum PMID:21240009|REF_RGD_ID:5490305 12269767 TLR4 toll like receptor 4 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23650378 12269767 TLR4 toll like receptor 4 gene DOID:869 cholesteatoma ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:mucosa: PMID:22883581|REF_RGD_ID:7800662 12269767 TLR4 toll like receptor 4 gene DOID:874 bacterial pneumonia ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:16210672|PMID:20650991|REF_RGD_ID:4144172|REF_RGD_ID:4144197 12269767 TLR4 toll like receptor 4 gene DOID:8778 Crohn's disease ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17914947 12269767 TLR4 toll like receptor 4 gene DOID:8893 psoriasis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell: PMID:23457721|REF_RGD_ID:7777173 12269767 TLR4 toll like receptor 4 gene DOID:8927 learning disability ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29107071 12269767 TLR4 toll like receptor 4 gene DOID:8947 diabetic retinopathy onset ISO RGD:737013 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.N299G (human) PMID:19135114|REF_RGD_ID:2312487 12269767 TLR4 toll like receptor 4 gene DOID:9000039 Spinal Cord Injuries severity ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:25990044|REF_RGD_ID:14700556 12269767 TLR4 toll like receptor 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:737013 D RGD:9068941 20200609 RGD associated with Carcinoma, Ductal, Breast; PMID:23338716|REF_RGD_ID:7794684 12269767 TLR4 toll like receptor 4 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:737014 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:12781911|REF_RGD_ID:7794740 12269767 TLR4 toll like receptor 4 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:737013 D RGD:9068941 20200609 RGD associated with Plaque,Atherosclerotic;mRNA:increased expression:mononuclear cell: PMID:23457721|REF_RGD_ID:7777173 12269767 TLR4 toll like receptor 4 gene DOID:9000238 Acute-On-Chronic Liver Failure treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:23591781|REF_RGD_ID:10402084 12269767 TLR4 toll like receptor 4 gene DOID:9000310 Lung Injury ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22300504 12269767 TLR4 toll like receptor 4 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:19719951|REF_RGD_ID:4144093 12269767 TLR4 toll like receptor 4 gene DOID:9000641 Pain ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:18662331|REF_RGD_ID:2312574 12269767 TLR4 toll like receptor 4 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:20007931|REF_RGD_ID:4144229 12269767 TLR4 toll like receptor 4 gene DOID:9000784 Fibrosis ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27585667 12269767 TLR4 toll like receptor 4 gene DOID:9000843 Acne Conglobata susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms:exons:p.D299G,T399I(human) PMID:22085193|REF_RGD_ID:7777157 12269767 TLR4 toll like receptor 4 gene DOID:9000889 Escherichia Coli Meningitis ISO RGD:737014 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:12781911|REF_RGD_ID:7794740 12269767 TLR4 toll like receptor 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 12269767 TLR4 toll like receptor 4 gene DOID:9000998 Brain Injuries ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:18316784|REF_RGD_ID:2312713 12269767 TLR4 toll like receptor 4 gene DOID:9000998 Brain Injuries ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 12269767 TLR4 toll like receptor 4 gene DOID:9001004 Chronic Periodontitis severity ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:gingiva: PMID:21848608|REF_RGD_ID:7794852 12269767 TLR4 toll like receptor 4 gene DOID:9001371 Eosinophilia ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26882889 12269767 TLR4 toll like receptor 4 gene DOID:9001472 Nasal Polyps ISO RGD:737013 D RGD:9068941 20200609 RGD associated with Rhinosinusitis;mRNA,protein:increased expression: PMID:23157229|REF_RGD_ID:7800741 12269767 TLR4 toll like receptor 4 gene DOID:9001552 Acanthamoeba Keratitis ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cornea PMID:21155840|REF_RGD_ID:7777095 12269767 TLR4 toll like receptor 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12269767 TLR4 toll like receptor 4 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:22683883|REF_RGD_ID:7241092 12269767 TLR4 toll like receptor 4 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:27601294|REF_RGD_ID:18182936 12269767 TLR4 toll like receptor 4 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20981132 12269767 TLR4 toll like receptor 4 gene DOID:9001708 Hemorrhagic Shock severity ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:25049041|REF_RGD_ID:14697700 12269767 TLR4 toll like receptor 4 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:21031135|REF_RGD_ID:7794771 12269767 TLR4 toll like receptor 4 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27442881 12269767 TLR4 toll like receptor 4 gene DOID:9001949 Fungal Eye Infections ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA:increased expression:cornea PMID:19474209|REF_RGD_ID:2312502 12269767 TLR4 toll like receptor 4 gene DOID:9001981 Weight Loss ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31442584 12269767 TLR4 toll like receptor 4 gene DOID:9002138 Spinal Cord Reperfusion Injury ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:27760212|REF_RGD_ID:12910551 12269767 TLR4 toll like receptor 4 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:21431875|REF_RGD_ID:10402078 12269767 TLR4 toll like receptor 4 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:3870 D RGD:9068941 20200609 RGD protein:increased expression:membrane raft: PMID:23395256|REF_RGD_ID:14697699 12269767 TLR4 toll like receptor 4 gene DOID:9002159 Liver Reperfusion Injury severity ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:22797797|REF_RGD_ID:14697702 12269767 TLR4 toll like receptor 4 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:27064547|REF_RGD_ID:14697698 12269767 TLR4 toll like receptor 4 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:21693218|REF_RGD_ID:5685379 12269767 TLR4 toll like receptor 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22021706|REF_RGD_ID:7207902 12269767 TLR4 toll like receptor 4 gene DOID:9002211 Hyperalgesia ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:20714435|REF_RGD_ID:4144070 12269767 TLR4 toll like receptor 4 gene DOID:9002211 Hyperalgesia ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:24204973|REF_RGD_ID:8553185 12269767 TLR4 toll like receptor 4 gene DOID:9002211 Hyperalgesia ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:15809417|REF_RGD_ID:7815040 12269767 TLR4 toll like receptor 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17301271 12269767 TLR4 toll like receptor 4 gene DOID:9002498 Wallerian Degeneration ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:18003835|REF_RGD_ID:2312723 12269767 TLR4 toll like receptor 4 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21616060 12269767 TLR4 toll like receptor 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3870 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:18644848|REF_RGD_ID:2312575 12269767 TLR4 toll like receptor 4 gene DOID:9003036 Oral Lichen Planus ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:oral epithelium: PMID:22672741|REF_RGD_ID:7777153 12269767 TLR4 toll like receptor 4 gene DOID:9003157 Respiratory Sounds susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNPs::rs11536891,rs11536896,rs11536898(human) PMID:20085599|REF_RGD_ID:5130731 12269767 TLR4 toll like receptor 4 gene DOID:9003321 Bacterial Keratitis ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections; PMID:23841825|REF_RGD_ID:8552886 12269767 TLR4 toll like receptor 4 gene DOID:9003321 Bacterial Keratitis ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Serratia Infections; PMID:23033384|REF_RGD_ID:8662876 12269767 TLR4 toll like receptor 4 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:20806060|REF_RGD_ID:5130178 12269767 TLR4 toll like receptor 4 gene DOID:9004009 Reperfusion Injury ISO RGD:3870 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19473433|REF_RGD_ID:2312503 12269767 TLR4 toll like receptor 4 gene DOID:9004009 Reperfusion Injury ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25780291|PMID:27064547 12269767 TLR4 toll like receptor 4 gene DOID:9004009 Reperfusion Injury ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:17126102|REF_RGD_ID:4144169 12269767 TLR4 toll like receptor 4 gene DOID:9004017 Chronic Hepatitis C ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:26095186|REF_RGD_ID:14700655 12269767 TLR4 toll like receptor 4 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP: :rs2148356(human) PMID:26095186|REF_RGD_ID:14700655 12269767 TLR4 toll like receptor 4 gene DOID:9004055 Fungal Keratitis ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Aspergillosis PMID:20617171|REF_RGD_ID:7794847 12269767 TLR4 toll like receptor 4 gene DOID:9004283 Transplant Rejection ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:20038715|REF_RGD_ID:7240555 12269767 TLR4 toll like receptor 4 gene DOID:9004283 Transplant Rejection ISO RGD:737014 D RGD:9068941 20200609 RGD pancreatic islet PMID:20642685|REF_RGD_ID:7240548 12269767 TLR4 toll like receptor 4 gene DOID:9004484 Sepsis ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:14604479|REF_RGD_ID:2312732 12269767 TLR4 toll like receptor 4 gene DOID:9004484 Sepsis ISO RGD:3870 D RGD:9068941 20200609 RGD associated with Liver Diseases;mRNA:increased expression:liver PMID:19489280|REF_RGD_ID:2312497 12269767 TLR4 toll like receptor 4 gene DOID:9004484 Sepsis ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20624996 12269767 TLR4 toll like receptor 4 gene DOID:9004538 Hearing Loss ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21148032 12269767 TLR4 toll like receptor 4 gene DOID:9004538 Hearing Loss susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD associated with Meningitis,Bacterial; DNA:SNP,haplotype: :896A>G(rs4986790)(human) PMID:22662111|REF_RGD_ID:7800663 12269767 TLR4 toll like receptor 4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21473897 12269767 TLR4 toll like receptor 4 gene DOID:9004590 Acute Liver Failure ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:18070011|REF_RGD_ID:4144156 12269767 TLR4 toll like receptor 4 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:20546456|REF_RGD_ID:14700555 12269767 TLR4 toll like receptor 4 gene DOID:9004610 Acute Lung Injury ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:19567182|REF_RGD_ID:5135496 12269767 TLR4 toll like receptor 4 gene DOID:9004974 Painful Neuropathy treatment ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:18615568|REF_RGD_ID:7815041 12269767 TLR4 toll like receptor 4 gene DOID:9005036 Bacteremia susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.D299G, T399I (human) PMID:18180796|REF_RGD_ID:4144194 12269767 TLR4 toll like receptor 4 gene DOID:9005172 Lung Neoplasms ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19925653 12269767 TLR4 toll like receptor 4 gene DOID:9005269 Stable Angina ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20981132 12269767 TLR4 toll like receptor 4 gene DOID:9005372 Inflammation ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16651628|PMID:22053092|PMID:22178603|PMID:22300504 12269767 TLR4 toll like receptor 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:16740310|REF_RGD_ID:2312491 12269767 TLR4 toll like receptor 4 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:20207969|REF_RGD_ID:7794846 12269767 TLR4 toll like receptor 4 gene DOID:9005930 Endotoxemia ISO RGD:737014 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:23977376|REF_RGD_ID:14697731 12269767 TLR4 toll like receptor 4 gene DOID:9005930 Endotoxemia disease_progression ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:23977376|REF_RGD_ID:14697731 12269767 TLR4 toll like receptor 4 gene DOID:9005930 Endotoxemia treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:22172266|REF_RGD_ID:7241094 12269767 TLR4 toll like receptor 4 gene DOID:9005941 Rhinosinusitis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:paranasal sinus PMID:22182736|REF_RGD_ID:7800733 12269767 TLR4 toll like receptor 4 gene DOID:9005968 Neuralgia ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA:increased expression:lumbar vertebra PMID:15145554|REF_RGD_ID:1342461 12269767 TLR4 toll like receptor 4 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:11801667|PMID:20130923|REF_RGD_ID:7240552|REF_RGD_ID:7241087 12269767 TLR4 toll like receptor 4 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:23239000|REF_RGD_ID:7207892 12269767 TLR4 toll like receptor 4 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple tissues PMID:18434754|REF_RGD_ID:2312677 12269767 TLR4 toll like receptor 4 gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:22115333|REF_RGD_ID:10402095 12269767 TLR4 toll like receptor 4 gene DOID:9006928 Viral Bronchiolitis ISO RGD:737013 D RGD:9068941 20200609 RGD protein:decreased expression:neutrophil PMID:19497921|REF_RGD_ID:4144183 12269767 TLR4 toll like receptor 4 gene DOID:9006928 Viral Bronchiolitis ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:14738455|REF_RGD_ID:4144819 12269767 TLR4 toll like receptor 4 gene DOID:9006944 Alcoholic Fatty Liver severity ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:21463341|PMID:29884546|REF_RGD_ID:14697697|REF_RGD_ID:14700554 12269767 TLR4 toll like receptor 4 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cornea: PMID:20012880|REF_RGD_ID:8552969 12269767 TLR4 toll like receptor 4 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:17065506|REF_RGD_ID:7794775 12269767 TLR4 toll like receptor 4 gene DOID:9007096 Stroke ISO RGD:737013 D RGD:9068941 20200609 RGD associated with atherosclerosis;protein:increased expression:endothelial cell: PMID:20001205|REF_RGD_ID:7794781 12269767 TLR4 toll like receptor 4 gene DOID:9007204 Dysbiosis ISO RGD:737013 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:35390362 12269767 TLR4 toll like receptor 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury disease_progression ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:17504260|REF_RGD_ID:14697733 12269767 TLR4 toll like receptor 4 gene DOID:9007389 Acute Tubulointerstitial Nephritis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:22194975|REF_RGD_ID:7207900 12269767 TLR4 toll like receptor 4 gene DOID:9007599 Ocular Onchocerciasis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:11884755|REF_RGD_ID:7794682 12269767 TLR4 toll like receptor 4 gene DOID:9007692 Insulin Resistance ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:17426960|REF_RGD_ID:1620681 12269767 TLR4 toll like receptor 4 gene DOID:9007692 Insulin Resistance ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Obesity PMID:19675137|REF_RGD_ID:2312483 12269767 TLR4 toll like receptor 4 gene DOID:9007692 Insulin Resistance severity ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:18633101|REF_RGD_ID:2312489 12269767 TLR4 toll like receptor 4 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:14962484|REF_RGD_ID:1302746 12269767 TLR4 toll like receptor 4 gene DOID:9008091 Optic Nerve Injuries ISO RGD:737014 D RGD:9068941 20200609 RGD protein:increased expression:optic nerve PMID:23103505|REF_RGD_ID:7794777 12269767 TLR4 toll like receptor 4 gene DOID:9008103 Seasonal Allergic Rhinitis susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.D299G, T399I (human) PMID:18517079|REF_RGD_ID:4144192 12269767 TLR4 toll like receptor 4 gene DOID:9008163 Chronic Hepatitis B ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:28414577|REF_RGD_ID:15090812 12269767 TLR4 toll like receptor 4 gene DOID:9008212 Diabetic Foot susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :rs4986790,rs4986791,rs10759931,rs1927911(human); PMID:23936790|REF_RGD_ID:7777174 12269767 TLR4 toll like receptor 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16879199|PMID:22180778 12269767 TLR4 toll like receptor 4 gene DOID:9008520 Chronic Pain ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:24204973|REF_RGD_ID:8553185 12269767 TLR4 toll like receptor 4 gene DOID:9008691 Liver Injury severity ISO RGD:737014 D RGD:9068941 20200609 RGD associated with acute pancreatitis; PMID:18436016|REF_RGD_ID:14697701 12269767 TLR4 toll like receptor 4 gene DOID:9008821 Otitis Media with Effusion ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:22336013|REF_RGD_ID:7364764 12269767 TLR4 toll like receptor 4 gene DOID:9008865 Entamoebiasis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:15910421|REF_RGD_ID:7241086 12269767 TLR4 toll like receptor 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:19841185|REF_RGD_ID:7241088 12269767 TLR4 toll like receptor 4 gene DOID:9111 cutaneous leishmaniasis ISO RGD:737013 D RGD:9068941 20200609 RGD protein:decreased expression:skin: PMID:20493664|REF_RGD_ID:7794748 12269767 TLR4 toll like receptor 4 gene DOID:9351 diabetes mellitus ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:15632890|REF_RGD_ID:1580736 12269767 TLR4 toll like receptor 4 gene DOID:9351 diabetes mellitus ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:19210958|REF_RGD_ID:2312485 12269767 TLR4 toll like receptor 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.N299G, p.T399I (human) PMID:19395279|REF_RGD_ID:2312484 12269767 TLR4 toll like receptor 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:19010563|REF_RGD_ID:2312680 12269767 TLR4 toll like receptor 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:16728431|REF_RGD_ID:2312492 12269767 TLR4 toll like receptor 4 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.N299G, p.T399I (human) PMID:14578307|REF_RGD_ID:2312494 12269767 TLR4 toll like receptor 4 gene DOID:9452 fatty liver disease ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18641190|PMID:27022031 12269767 TLR4 toll like receptor 4 gene DOID:9675 pulmonary emphysema ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:17053835|REF_RGD_ID:4144170 12269767 TLR4 toll like receptor 4 gene DOID:9675 pulmonary emphysema ISO RGD:737014 D RGD:9068941 20220825 MouseDO OMIM:130700 12269767 TLR4 toll like receptor 4 gene DOID:9743 diabetic neuropathy ISO RGD:3870 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:22910613|REF_RGD_ID:7777098 12269767 TLR4 toll like receptor 4 gene DOID:9743 diabetic neuropathy ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14693986 12269767 TLR4 toll like receptor 4 gene DOID:9743 diabetic neuropathy susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphisms: :p.N299G, p.T399I (human) PMID:14693986|REF_RGD_ID:2312493 12269767 TLR4 toll like receptor 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:18029454|REF_RGD_ID:2312683 12269767 TLR4 toll like receptor 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:16728431|REF_RGD_ID:2312492 12269767 TLR4 toll like receptor 4 gene DOID:9970 obesity ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:19144836|REF_RGD_ID:2312510 12269767 TLR4 toll like receptor 4 gene DOID:9970 obesity ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:19144836|REF_RGD_ID:2312510 12269767 TLR4 toll like receptor 4 gene DOID:9970 obesity susceptibility ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:17053832|REF_RGD_ID:1620653 12269767 Tlr4 toll-like receptor 4 gene DOID:11446 sciatic neuropathy ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord: PMID:22173123|REF_RGD_ID:7364836 12269774 PDE6A phosphodiesterase 6A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1315676 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12269774 PDE6A phosphodiesterase 6A gene DOID:0110379 retinitis pigmentosa 43 IAGP D RGD:12801476 20210603 OMIA Rod-cone dysplasia 3 PMID:5082485|PMID:10393029|PMID:10895911|PMID:18775863|PMID:22065099|PMID:28676737 12269774 PDE6A phosphodiesterase 6A gene DOID:0110379 retinitis pigmentosa 43 ISO RGD:1315676 D RGD:7240710 20180130 OMIM 12269774 PDE6A phosphodiesterase 6A gene DOID:0110379 retinitis pigmentosa 43 ISO RGD:1315676 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 43 PMID:10393062|PMID:16199547|PMID:17110911|PMID:17576681|PMID:18849587|PMID:21039428|PMID:21147909|PMID:21151602|PMID:22128245|PMID:23105016|PMID:23847139|PMID:24265693|PMID:24339724|PMID:24416769|PMID:24512775|PMID:25182519|PMID:25741868|PMID:25775262|PMID:25999674|PMID:26188004|PMID:26306921|PMID:26321862|PMID:26868535|PMID:27208204|PMID:27551530|PMID:27917291|PMID:28041643|PMID:28157543|PMID:28492532|PMID:29343940|PMID:29693493|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30998820|PMID:31213501|PMID:31736247|PMID:31872526|PMID:33057649|PMID:33090715|PMID:33946315|PMID:34926197|PMID:35533076|PMID:7493036|PMID:9536098 12269774 PDE6A phosphodiesterase 6A gene DOID:10584 retinitis pigmentosa ISO RGD:1315676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10393062|PMID:16199547|PMID:17110911|PMID:18723146|PMID:21147909|PMID:21151602|PMID:22128245|PMID:23105016|PMID:23134348|PMID:23847139|PMID:24265693|PMID:24339724|PMID:24416769|PMID:24512775|PMID:25741868|PMID:25775262|PMID:25999674|PMID:26188004|PMID:26806561|PMID:26868535|PMID:27208204|PMID:27551530|PMID:27820873|PMID:27917291|PMID:28041643|PMID:28492532|PMID:29118501|PMID:29343940|PMID:29693493|PMID:30029497|PMID:30337596|PMID:30619975|PMID:30718709|PMID:30998820|PMID:31213501|PMID:31736247|PMID:33057649|PMID:33090715|PMID:7493036 12269774 PDE6A phosphodiesterase 6A gene DOID:10584 retinitis pigmentosa ISO RGD:1315676 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10393062|PMID:16199547|PMID:17110911|PMID:18723146|PMID:21147909|PMID:21151602|PMID:22128245|PMID:23105016|PMID:23134348|PMID:23847139|PMID:24265693|PMID:24339724|PMID:24416769|PMID:24512775|PMID:25741868|PMID:25775262|PMID:25999674|PMID:26188004|PMID:26306921|PMID:26806561|PMID:26868535|PMID:27208204|PMID:27551530|PMID:27820873|PMID:27917291|PMID:28041643|PMID:28492532|PMID:29118501|PMID:29343940|PMID:29693493|PMID:30029497|PMID:30337596|PMID:30619975|PMID:30718709|PMID:30998820|PMID:31213501|PMID:31736247|PMID:33057649|PMID:33090715|PMID:7493036 12269774 PDE6A phosphodiesterase 6A gene DOID:10584 retinitis pigmentosa ISO RGD:1315676 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10393062|PMID:16199547|PMID:17110911|PMID:18723146|PMID:21147909|PMID:21151602|PMID:22128245|PMID:23105016|PMID:23134348|PMID:23847139|PMID:24265693|PMID:24339724|PMID:24416769|PMID:24512775|PMID:25182519|PMID:25741868|PMID:25775262|PMID:25999674|PMID:26188004|PMID:26306921|PMID:26806561|PMID:26868535|PMID:27208204|PMID:27551530|PMID:27820873|PMID:27917291|PMID:28041643|PMID:28492532|PMID:29118501|PMID:29343940|PMID:29693493|PMID:30029497|PMID:30337596|PMID:30619975|PMID:30718709|PMID:30998820|PMID:31213501|PMID:31736247|PMID:33057649|PMID:33090715|PMID:7493036 12269774 PDE6A phosphodiesterase 6A gene DOID:14791 Leber congenital amaurosis ISO RGD:1315676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 12269774 PDE6A phosphodiesterase 6A gene DOID:630 genetic disease ISO RGD:1315676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22128245|PMID:23847139|PMID:25741868|PMID:26321862|PMID:26496393|PMID:26806561|PMID:28041643|PMID:28492532|PMID:29693493|PMID:30619975|PMID:7493036 12269774 PDE6A phosphodiesterase 6A gene DOID:8501 fundus dystrophy ISO RGD:1315676 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10393062|PMID:16199547|PMID:17110911|PMID:17576681|PMID:18849587|PMID:21039428|PMID:22128245|PMID:23105016|PMID:23134348|PMID:23847139|PMID:24339724|PMID:24416769|PMID:25741868|PMID:25775262|PMID:26188004|PMID:26806561|PMID:26868535|PMID:27208204|PMID:27551530|PMID:27917291|PMID:28041643|PMID:28157543|PMID:28492532|PMID:29343940|PMID:29693493|PMID:30543658|PMID:30718709|PMID:31872526|PMID:33057649|PMID:35533076|PMID:7493036|PMID:9536098 12269774 PDE6A phosphodiesterase 6A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12269774 PDE6A phosphodiesterase 6A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315676 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12269806 CPED1 cadherin like and PC-esterase domain containing 1 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1605333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 12269806 CPED1 cadherin like and PC-esterase domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12269806 CPED1 cadherin like and PC-esterase domain containing 1 gene DOID:630 genetic disease ISO RGD:1605333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269840 ZNF133 zinc finger protein 133 gene DOID:630 genetic disease ISO RGD:1343941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269874 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide gene DOID:0060041 autism spectrum disorder ISO RGD:735489 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12269874 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:735489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29718361 12269874 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide gene DOID:630 genetic disease ISO RGD:735489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269874 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide gene DOID:684 hepatocellular carcinoma ISO RGD:735489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12269874 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 12269887 MDH1B malate dehydrogenase 1B gene DOID:14557 primary pulmonary hypertension ISO RGD:1317321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12269887 MDH1B malate dehydrogenase 1B gene DOID:630 genetic disease ISO RGD:1317321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12269887 MDH1B malate dehydrogenase 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12269911 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1348942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:26467025|PMID:28492532 12269911 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0050823 third-degree atrioventricular block ISO RGD:1348942 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Third degree atrioventricular block 12269911 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1348942 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:16199547|PMID:17159980|PMID:19542096|PMID:24033266|PMID:24319099|PMID:25741868|PMID:25843669|PMID:26467025|PMID:27086870|PMID:27782104|PMID:28492532|PMID:31103315 12269911 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0050952 spastic ataxia ISO RGD:1348942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:19542096|PMID:24319099|PMID:25741868|PMID:26467025|PMID:27086870|PMID:28492532 12269911 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 ISO RGD:1348942 D RGD:7240710 20180711 OMIM 12269911 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 ISO RGD:1348942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:16199547|PMID:17576681|PMID:17761684|PMID:18414213|PMID:19542096|PMID:21572417|PMID:21701589|PMID:22162184|PMID:22287014|PMID:23352163|PMID:23959263|PMID:24123366|PMID:24123876|PMID:24319099|PMID:24388756|PMID:24892279|PMID:25133958|PMID:25214167|PMID:25401298|PMID:25741868|PMID:25976027|PMID:26302956|PMID:26467025|PMID:26539891|PMID:26770814|PMID:26870756|PMID:27060904|PMID:27066551|PMID:27086870|PMID:27178001|PMID:27197992|PMID:27305979|PMID:27378695|PMID:28017257|PMID:28074886|PMID:28178086|PMID:28492532|PMID:28750076|PMID:29625556|PMID:29961767|PMID:30029642|PMID:30119932|PMID:30275942|PMID:30487145|PMID:30564623|PMID:30610203|PMID:31230720|PMID:3169216|PMID:31692161|PMID:32038460|PMID:9536098 12269911 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1348942 D RGD:9068941 20200609 RGD DNA:mutation:splice junction: PMID:19542096|REF_RGD_ID:13209012 12269911 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0080979 arthrogryposis multiplex congenita-3 ISO RGD:1348942 D RGD:7240710 20190814 OMIM 12269911 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0080979 arthrogryposis multiplex congenita-3 ISO RGD:1348942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type PMID:19542096|PMID:24319099|PMID:24838835|PMID:25741868|PMID:26467025|PMID:27086870|PMID:27178001|PMID:27782104|PMID:28492532 12269911 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1348942 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A 12269911 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1348942 D RGD:7240710 20180130 OMIM 12269911 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1348942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:16199547|PMID:17159980|PMID:17503513|PMID:17576681|PMID:17761684|PMID:18414213|PMID:19542096|PMID:19944109|PMID:21572417|PMID:21701589|PMID:22162184|PMID:22287014|PMID:23325900|PMID:23352163|PMID:23959263|PMID:24033266|PMID:24123366|PMID:24123876|PMID:24319099|PMID:24366360|PMID:24388756|PMID:24838835|PMID:24892279|PMID:25091525|PMID:25133958|PMID:25214167|PMID:25401298|PMID:25640679|PMID:25741868|PMID:25843669|PMID:25976027|PMID:26302956|PMID:26467025|PMID:26539891|PMID:26770814|PMID:26870756|PMID:27060904|PMID:27066551|PMID:27086870|PMID:27178001|PMID:27197992|PMID:27305979|PMID:27378695|PMID:27671794|PMID:27782104|PMID:28017257|PMID:28074886|PMID:28178086|PMID:28492532|PMID:28687974|PMID:28750076|PMID:28798025|PMID:29077258|PMID:29389947|PMID:29482223|PMID:29625556|PMID:29961767|PMID:30029642|PMID:30119932|PMID:30275942|PMID:30487145|PMID:30564623|PMID:30573412|PMID:30610203|PMID:30619065|PMID:31103315|PMID:31127727|PMID:31230720|PMID:3169216|PMID:31692161|PMID:32038460|PMID:32348865|PMID:32488064|PMID:32870032|PMID:32889669|PMID:34368859|PMID:34602496|PMID:9536098 12269911 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:1059 intellectual disability ISO RGD:1348942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17761684|PMID:23352163|PMID:24123876|PMID:25741868|PMID:26467025|PMID:27086870|PMID:27178001|PMID:28492532|PMID:30564623|PMID:31692161 12269911 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1348942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 12269911 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:303 substance-related disorder ISO RGD:1348942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12269911 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:3070 high grade glioma ISO RGD:1348942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12269911 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:3312 bipolar disorder susceptibility ISO RGD:1348942 D RGD:9068941 20200609 RGD DNA:SNPs:promoter,intron: PMID:28178086|REF_RGD_ID:13209005 12269911 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:630 genetic disease ISO RGD:1348942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17159980|PMID:19542096|PMID:24033266|PMID:24319099|PMID:25741868|PMID:25843669|PMID:26467025|PMID:27086870|PMID:27178001|PMID:27378695|PMID:27782104|PMID:28492532|PMID:31103315 12269911 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:9000276 Juvenile Amyotrophic Lateral Sclerosis ISO RGD:1348942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis PMID:25741868 12269911 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:9000495 Tremor ISO RGD:1348942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor 12269911 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:28492532 12269911 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 12269911 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1348942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 12269911 SYNE1 spectrin repeat containing nuclear envelope protein 1 gene DOID:9884 muscular dystrophy ISO RGD:1348942 D RGD:9068941 20200609 RGD DNA:mutation:cds: c.323C>T, p.N108S(human) PMID:25091525|REF_RGD_ID:13209008 12270062 SYTL3 synaptotagmin like 3 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1352944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 12270062 SYTL3 synaptotagmin like 3 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1352944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 12270062 SYTL3 synaptotagmin like 3 gene DOID:630 genetic disease ISO RGD:1352944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12270093 CD37 CD37 molecule gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1346523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12270093 CD37 CD37 molecule gene DOID:630 genetic disease ISO RGD:1346523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12270112 TNFAIP8L3 TNF alpha induced protein 8 like 3 gene DOID:2717 Bloom syndrome ISO RGD:1604925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12270112 TNFAIP8L3 TNF alpha induced protein 8 like 3 gene DOID:607 paraplegia ISO RGD:1604925 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 12270112 TNFAIP8L3 TNF alpha induced protein 8 like 3 gene DOID:630 genetic disease ISO RGD:1604925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12270112 TNFAIP8L3 TNF alpha induced protein 8 like 3 gene DOID:9256 colorectal cancer ISO RGD:1604925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12270119 SLC35E2 solute carrier family 35 member E2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:4109106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12270119 SLC35E2 solute carrier family 35 member E2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:4109106 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12270119 SLC35E2 solute carrier family 35 member E2 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:4109106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12270119 SLC35E2 solute carrier family 35 member E2 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:4109106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12270119 SLC35E2 solute carrier family 35 member E2 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:4109106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12270119 SLC35E2 solute carrier family 35 member E2 gene DOID:0110994 Joubert syndrome 25 ISO RGD:4109106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12270119 SLC35E2 solute carrier family 35 member E2 gene DOID:0111934 immunodeficiency 38 ISO RGD:4109106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12270119 SLC35E2 solute carrier family 35 member E2 gene DOID:0111935 immunodeficiency 16 ISO RGD:4109106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12270119 SLC35E2 solute carrier family 35 member E2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:4109106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12270119 SLC35E2 solute carrier family 35 member E2 gene DOID:630 genetic disease ISO RGD:4109106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12270119 SLC35E2 solute carrier family 35 member E2 gene DOID:9002189 High Myopia ISO RGD:4109106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12270119 SLC35E2 solute carrier family 35 member E2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:4109106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12270119 SLC35E2 solute carrier family 35 member E2 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:4109106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12270119 SLC35E2 solute carrier family 35 member E2 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:4109106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12270158 OR52J3 olfactory receptor family 52 subfamily J member 3 gene DOID:0080773 delta beta-thalassemia ISO RGD:1353752 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12270158 OR52J3 olfactory receptor family 52 subfamily J member 3 gene DOID:630 genetic disease ISO RGD:1353752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12270162 SEC16A SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0050777 Joubert syndrome ISO RGD:1354294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12270162 SEC16A SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1354294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12270162 SEC16A SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1354294 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12270162 SEC16A SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1354294 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12270162 SEC16A SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1354294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12270162 SEC16A SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1354294 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12270162 SEC16A SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1354294 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12270162 SEC16A SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0081097 Rafiq syndrome ISO RGD:1354294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12270162 SEC16A SEC16 homolog A, endoplasmic reticulum export factor gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1354294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12270162 SEC16A SEC16 homolog A, endoplasmic reticulum export factor gene DOID:1826 epilepsy ISO RGD:1354294 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12270162 SEC16A SEC16 homolog A, endoplasmic reticulum export factor gene DOID:3652 Leigh disease ISO RGD:1354294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12270162 SEC16A SEC16 homolog A, endoplasmic reticulum export factor gene DOID:630 genetic disease ISO RGD:1354294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12270162 SEC16A SEC16 homolog A, endoplasmic reticulum export factor gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1354294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 12270218 LYRM9 LYR motif containing 9 gene DOID:5409 lung small cell carcinoma ISO RGD:3210028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 12270218 LYRM9 LYR motif containing 9 gene DOID:630 genetic disease ISO RGD:3210028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12270253 GLTP glycolipid transfer protein gene DOID:630 genetic disease ISO RGD:1602720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12270262 MIR218-1 microRNA mir-218-1 gene DOID:10487 Hirschsprung's disease ISO RGD:1344474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25786906 12270262 MIR218-1 microRNA mir-218-1 gene DOID:13580 cholestasis ISO RGD:1344474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424|PMID:30125006 12270262 MIR218-1 microRNA mir-218-1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424|PMID:30125006 12270265 MIR330 microRNA mir-330 gene DOID:9004610 Acute Lung Injury ISO RGD:2325620 D RGD:9068941 20200609 RGD associated with Disseminated Intravascular Coagulation;RNA:increased expression:lung: PMID:24806323|REF_RGD_ID:11553933 12270265 MIR330 microRNA mir-330 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1351782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12270307 CCL25 C-C motif chemokine ligand 25 gene DOID:0080490 mucolipidosis type IV ISO RGD:1313608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12270307 CCL25 C-C motif chemokine ligand 25 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1313608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 12270307 CCL25 C-C motif chemokine ligand 25 gene DOID:10247 pleurisy ISO RGD:1313609 D RGD:9068941 20200609 RGD protein:increased expression:pleural fluid PMID:18056919|REF_RGD_ID:5130924 12270307 CCL25 C-C motif chemokine ligand 25 gene DOID:12849 autistic disorder ISO RGD:1313608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12270307 CCL25 C-C motif chemokine ligand 25 gene DOID:630 genetic disease ISO RGD:1313608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12270307 CCL25 C-C motif chemokine ligand 25 gene DOID:9004898 Jaundice ISO RGD:1305530 D RGD:9068941 20200609 RGD mRNA:decreased expression:ileum PMID:18592157|REF_RGD_ID:5130926 12270332 THBD thrombomodulin gene DOID:0050156 idiopathic pulmonary fibrosis severity ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:20418386|REF_RGD_ID:5685036 12270332 THBD thrombomodulin gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16206674 12270332 THBD thrombomodulin gene DOID:0060903 thrombosis ISO RGD:1349382 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868 12270332 THBD thrombomodulin gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1349382 D RGD:7240710 20230517 OMIM 12270332 THBD thrombomodulin gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1349382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome PMID:10460600|PMID:11245641|PMID:11986219|PMID:12139752|PMID:15574195|PMID:17677000|PMID:19625716|PMID:23332921|PMID:24933457|PMID:25135378|PMID:25741868|PMID:28492532|PMID:7811989|PMID:9157575|PMID:9236408 12270332 THBD thrombomodulin gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1349382 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome PMID:10460600|PMID:11245641|PMID:11986219|PMID:12139752|PMID:15574195|PMID:17677000|PMID:19625716|PMID:23314101|PMID:23332921|PMID:24933457|PMID:25135378|PMID:25741868|PMID:28492532|PMID:31064749|PMID:34355501|PMID:7811989|PMID:9157575|PMID:9236408 12270332 THBD thrombomodulin gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1349382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:10460600|PMID:11245641|PMID:11986219|PMID:12139752|PMID:15574195|PMID:17677000|PMID:19625716|PMID:23314101|PMID:23332921|PMID:24933457|PMID:25135378|PMID:25741868|PMID:28492532|PMID:28939980|PMID:31064749|PMID:31118930|PMID:34355501|PMID:7811989|PMID:9157575|PMID:9198186|PMID:9236408 12270332 THBD thrombomodulin gene DOID:0080301 atypical hemolytic-uremic syndrome no_association ISO RGD:1349382 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr, 3' utr:multiple PMID:19625716|REF_RGD_ID:11038691 12270332 THBD thrombomodulin gene DOID:0080301 atypical hemolytic-uremic syndrome severity ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:20595690|REF_RGD_ID:11038684 12270332 THBD thrombomodulin gene DOID:0111908 thrombophilia due to thrombomodulin defect ISO RGD:1349382 D RGD:7240710 20230517 OMIM 12270332 THBD thrombomodulin gene DOID:0111908 thrombophilia due to thrombomodulin defect ISO RGD:1349382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombomodulin-related bleeding disorder | ClinVar Annotator: match by term: Thrombophilia due to thrombomodulin defect PMID:10195941|PMID:10460600|PMID:10627464|PMID:11078228|PMID:11986219|PMID:12139752|PMID:19625716|PMID:23314101|PMID:23332921|PMID:24933457|PMID:25135378|PMID:25741868|PMID:28492532|PMID:28939980|PMID:31118930|PMID:34355501|PMID:7811989|PMID:9198186|PMID:9236408|PMID:9364978|PMID:9843165 12270332 THBD thrombomodulin gene DOID:0112313 brain small vessel disease severity ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:artery endothelium PMID:22170884|REF_RGD_ID:5684978 12270332 THBD thrombomodulin gene DOID:10223 dermatomyositis ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:17899683|REF_RGD_ID:5685006 12270332 THBD thrombomodulin gene DOID:10652 Alzheimer's disease ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:15760641|REF_RGD_ID:5685018 12270332 THBD thrombomodulin gene DOID:10763 hypertension ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:16095049|REF_RGD_ID:5685017 12270332 THBD thrombomodulin gene DOID:10763 hypertension ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17401180|REF_RGD_ID:1601636 12270332 THBD thrombomodulin gene DOID:10763 hypertension ISO RGD:621299 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:12611420|REF_RGD_ID:1601652 12270332 THBD thrombomodulin gene DOID:10763 hypertension treatment ISO RGD:621299 D RGD:9068941 20200609 RGD associated with Experimental Diabetes Mellitus PMID:14737039|REF_RGD_ID:1601646 12270332 THBD thrombomodulin gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7740478 12270332 THBD thrombomodulin gene DOID:11247 disseminated intravascular coagulation ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9134660 12270332 THBD thrombomodulin gene DOID:11247 disseminated intravascular coagulation ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:21569368|REF_RGD_ID:5685034 12270332 THBD thrombomodulin gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:23952647|REF_RGD_ID:11038686 12270332 THBD thrombomodulin gene DOID:11394 adult respiratory distress syndrome ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12707536 12270332 THBD thrombomodulin gene DOID:11394 adult respiratory distress syndrome ISO RGD:621299 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:12707536|REF_RGD_ID:1601651 12270332 THBD thrombomodulin gene DOID:12132 granulomatosis with polyangiitis ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20156770|REF_RGD_ID:5684985 12270332 THBD thrombomodulin gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1553030 D RGD:9068941 20200609 RGD PMID:22942429|REF_RGD_ID:11038690 12270332 THBD thrombomodulin gene DOID:13809 familial combined hyperlipidemia ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:15262191|REF_RGD_ID:1601645 12270332 THBD thrombomodulin gene DOID:1459 hypothyroidism ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:22985614|REF_RGD_ID:11038688 12270332 THBD thrombomodulin gene DOID:1588 thrombocytopenia ISO RGD:1349382 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532 12270332 THBD thrombomodulin gene DOID:1875 impotence ISO RGD:1349382 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:11596671|REF_RGD_ID:2312459 12270332 THBD thrombomodulin gene DOID:2213 hemorrhagic disease ISO RGD:1349382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:31064749 12270332 THBD thrombomodulin gene DOID:2452 thrombophilia ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12139752 12270332 THBD thrombomodulin gene DOID:2452 thrombophilia ISO RGD:1553030 D RGD:9068941 20220825 MouseDO OMIM:188050 | OMIM:614486 12270332 THBD thrombomodulin gene DOID:2841 asthma ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:20709825|REF_RGD_ID:5684984 12270332 THBD thrombomodulin gene DOID:2945 severe acute respiratory syndrome ISO RGD:1349382 D RGD:9068941 20200625 RGD protein:increased expression:plasma (human) PMID:16274108|REF_RGD_ID:30309949 12270332 THBD thrombomodulin gene DOID:2987 familial Mediterranean fever ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:17067436|REF_RGD_ID:5685013 12270332 THBD thrombomodulin gene DOID:3021 acute kidney failure ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:17804460|REF_RGD_ID:5685010 12270332 THBD thrombomodulin gene DOID:3021 acute kidney failure treatment ISO RGD:621299 D RGD:9068941 20200609 RGD PMID:19176699|REF_RGD_ID:5684994 12270332 THBD thrombomodulin gene DOID:326 ischemia ISO RGD:621299 D RGD:9068941 20200609 RGD PMID:19461288|REF_RGD_ID:2312461 12270332 THBD thrombomodulin gene DOID:3393 coronary artery disease severity ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:17012137|REF_RGD_ID:1601638 12270332 THBD thrombomodulin gene DOID:3410 carotid artery thrombosis ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:21885846|REF_RGD_ID:5684980 12270332 THBD thrombomodulin gene DOID:3526 cerebral infarction susceptibility ISO RGD:1349382 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A455V (human) PMID:15574195|REF_RGD_ID:5685021 12270332 THBD thrombomodulin gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:20607726|REF_RGD_ID:5685035 12270332 THBD thrombomodulin gene DOID:409 liver disease ISO RGD:1349382 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:19487933|REF_RGD_ID:5684988 12270332 THBD thrombomodulin gene DOID:557 kidney disease ISO RGD:1349382 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:10460600|PMID:11986219|PMID:12139752|PMID:25741868|PMID:28492532|PMID:7811989 12270332 THBD thrombomodulin gene DOID:5844 myocardial infarction ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10627464|PMID:9843165 12270332 THBD thrombomodulin gene DOID:630 genetic disease ISO RGD:1349382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12270332 THBD thrombomodulin gene DOID:6432 pulmonary hypertension ISO RGD:1349382 D RGD:9068941 20200609 RGD associated with Mixed Connective Tissue Disease PMID:16784493|REF_RGD_ID:1601639 12270332 THBD thrombomodulin gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15209962|REF_RGD_ID:5685023 12270332 THBD thrombomodulin gene DOID:7147 ankylosing spondylitis ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21556780|REF_RGD_ID:5684983 12270332 THBD thrombomodulin gene DOID:7148 rheumatoid arthritis ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:15700117|REF_RGD_ID:5685020 12270332 THBD thrombomodulin gene DOID:783 end stage renal disease ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21873362|REF_RGD_ID:5684981 12270332 THBD thrombomodulin gene DOID:783 end stage renal disease ISO RGD:1553030 D RGD:9068941 20200609 RGD PMID:22129968|REF_RGD_ID:5684979 12270332 THBD thrombomodulin gene DOID:8577 ulcerative colitis ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:decreased expression:colon, blood vessel PMID:17557119|REF_RGD_ID:5685011 12270332 THBD thrombomodulin gene DOID:8778 Crohn's disease ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:decreased expression:colon, blood vessel PMID:17557119|REF_RGD_ID:5685011 12270332 THBD thrombomodulin gene DOID:9000039 Spinal Cord Injuries ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:15307903|REF_RGD_ID:1580060 12270332 THBD thrombomodulin gene DOID:9000169 Systemic Inflammatory Response Syndrome ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:15187749|REF_RGD_ID:5685024 12270332 THBD thrombomodulin gene DOID:9000217 Stomach Neoplasms ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12270332 THBD thrombomodulin gene DOID:9000528 Coronary Disease ISO RGD:1349382 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:17200788|REF_RGD_ID:2312456 12270332 THBD thrombomodulin gene DOID:9000998 Brain Injuries onset ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:17895610|REF_RGD_ID:5685007 12270332 THBD thrombomodulin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12270332 THBD thrombomodulin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621299 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:21112949|REF_RGD_ID:5685038 12270332 THBD thrombomodulin gene DOID:9002211 Hyperalgesia ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27474498 12270332 THBD thrombomodulin gene DOID:9002211 Hyperalgesia treatment ISO RGD:1349382 D RGD:9068941 20200609 RGD associated with Inflammation PMID:24004409|REF_RGD_ID:11038687 12270332 THBD thrombomodulin gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:21812019|REF_RGD_ID:5685033 12270332 THBD thrombomodulin gene DOID:9002457 Experimental Arthritis ISO RGD:1553030 D RGD:9068941 20200609 RGD PMID:16879225|REF_RGD_ID:5685015 12270332 THBD thrombomodulin gene DOID:9002906 Multiple Organ Failure treatment ISO RGD:1349382 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:8665042|REF_RGD_ID:11038715 12270332 THBD thrombomodulin gene DOID:9003121 Thromboembolism treatment ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:24098750|REF_RGD_ID:11038685 12270332 THBD thrombomodulin gene DOID:9004009 Reperfusion Injury ISO RGD:1553030 D RGD:9068941 20200609 RGD PMID:19342415|REF_RGD_ID:5131887 12270332 THBD thrombomodulin gene DOID:9004484 Sepsis ISO RGD:621299 D RGD:9068941 20200609 RGD PMID:17577447|REF_RGD_ID:2312462 12270332 THBD thrombomodulin gene DOID:9004590 Acute Liver Failure ISO RGD:621299 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11882417|REF_RGD_ID:1601654 12270332 THBD thrombomodulin gene DOID:9004610 Acute Lung Injury ISO RGD:1349382 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:19536047|REF_RGD_ID:5685372 12270332 THBD thrombomodulin gene DOID:9004610 Acute Lung Injury ISO RGD:1553030 D RGD:9068941 20200609 RGD PMID:19342415|REF_RGD_ID:5131887 12270332 THBD thrombomodulin gene DOID:9004610 Acute Lung Injury treatment ISO RGD:621299 D RGD:9068941 20200609 RGD PMID:20095324|REF_RGD_ID:13515130 12270332 THBD thrombomodulin gene DOID:9004649 Heat Stroke ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:20160670|REF_RGD_ID:5684987 12270332 THBD thrombomodulin gene DOID:9004974 Painful Neuropathy ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27474498 12270332 THBD thrombomodulin gene DOID:9005372 Inflammation treatment ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:24004409|REF_RGD_ID:11038687 12270332 THBD thrombomodulin gene DOID:9005930 Endotoxemia ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:19487933|REF_RGD_ID:5684988 12270332 THBD thrombomodulin gene DOID:9005930 Endotoxemia ISO RGD:1553030 D RGD:9068941 20200609 RGD PMID:20348393|REF_RGD_ID:5685037 12270332 THBD thrombomodulin gene DOID:9005930 Endotoxemia ISO RGD:621299 D RGD:9068941 20200609 RGD mRNA:decreased expression:endothelial cell PMID:12611420|REF_RGD_ID:1601652 12270332 THBD thrombomodulin gene DOID:9006646 Metabolic Syndrome ISO RGD:1349382 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies;protein:increased expression:plasma PMID:16567841|REF_RGD_ID:1601641 12270332 THBD thrombomodulin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27474498 12270332 THBD thrombomodulin gene DOID:9007096 Stroke ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:20581778|PMID:21645225|REF_RGD_ID:5684982|REF_RGD_ID:5684986 12270332 THBD thrombomodulin gene DOID:9007479 Habitual Abortions susceptibility ISO RGD:1349382 D RGD:9068941 20200609 RGD DNA:SNP: :1418C>T (human) PMID:23954867|REF_RGD_ID:11038683 12270332 THBD thrombomodulin gene DOID:9007692 Insulin Resistance ISO RGD:1349382 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:11453033|REF_RGD_ID:2312460 12270332 THBD thrombomodulin gene DOID:9008609 Endotoxin-Induced Uveitis treatment ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:22001200|REF_RGD_ID:11038716 12270332 THBD thrombomodulin gene DOID:9074 systemic lupus erythematosus ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18484695|REF_RGD_ID:5684995 12270332 THBD thrombomodulin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:17195062|REF_RGD_ID:2312457 12270332 THBD thrombomodulin gene DOID:9352 type 2 diabetes mellitus ISO RGD:621299 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood vessel endothelial cell PMID:17090405|REF_RGD_ID:1601648 12270332 THBD thrombomodulin gene DOID:9352 type 2 diabetes mellitus disease_progression ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11738074|REF_RGD_ID:2312458 12270332 THBD thrombomodulin gene DOID:9477 pulmonary embolism ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7811989 12270332 THBD thrombomodulin gene DOID:9744 type 1 diabetes mellitus disease_progression ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11738074|REF_RGD_ID:2312458 12270332 THBD thrombomodulin gene DOID:9970 obesity severity ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16651309|REF_RGD_ID:1601640 12270337 RNF103 ring finger protein 103 gene DOID:1596 depressive disorder ISO RGD:620586 D RGD:9068941 20200609 RGD PMID:11071867|REF_RGD_ID:634523 12270337 RNF103 ring finger protein 103 gene DOID:630 genetic disease ISO RGD:1349364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12270337 RNF103 ring finger protein 103 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1349364 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12270337 RNF103 ring finger protein 103 gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1349364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 12270345 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:0050645 arterial tortuosity syndrome ISO RGD:1349728 D RGD:9068941 20210305 RGD DNA:missense mutation:CDS:p.D203A (human) PMID:22943132|REF_RGD_ID:42722010 12270345 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1349728 D RGD:7240710 20180130 OMIM 12270345 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1349728 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:15776121|PMID:16199547|PMID:16685658|PMID:17576681|PMID:17937443|PMID:19664000|PMID:2038931|PMID:20389311|PMID:21563328|PMID:22440127|PMID:22943132|PMID:23532871|PMID:24033266|PMID:25741868|PMID:25907466|PMID:26017485|PMID:27339457|PMID:28454995|PMID:28492532|PMID:28673110|PMID:29620724|PMID:30140196|PMID:31127727|PMID:31589614|PMID:34901216|PMID:8985490|PMID:9536098 12270345 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:0070135 autosomal recessive cutis laxa type IA ISO RGD:1349728 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1A PMID:15776121|PMID:16685658|PMID:17937443|PMID:19664000|PMID:20389311|PMID:21563328|PMID:22943132|PMID:23532871|PMID:24033266|PMID:25741868|PMID:25907466|PMID:27339457|PMID:28492532|PMID:31589614|PMID:34901216|PMID:8985490 12270345 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:0080685 aortic dissection ISO RGD:1349728 D RGD:9068941 20210305 RGD mRNA, protein:decreased expression:aorta wall (human) PMID:23518852|REF_RGD_ID:42722606 12270345 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:1059 intellectual disability ISO RGD:1349728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12270345 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:1380 endometrial cancer ameliorates ISO RGD:1349728 D RGD:9068941 20210305 RGD human EFEMP2 knockdown cell line in a mouse model PMID:28177909|REF_RGD_ID:42722012 12270345 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:1380 endometrial cancer exacerbates ISO RGD:1349728 D RGD:9068941 20210305 RGD protein:decreased expression:endometrium (human) PMID:28177909|REF_RGD_ID:42722012 12270345 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1349728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12270345 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:2394 ovarian cancer exacerbates ISO RGD:1349728 D RGD:9068941 20210305 RGD mRNA, protein:increased expression:ovary (human) PMID:25885889|REF_RGD_ID:42722014 12270345 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:2746 glycogen storage disease V ISO RGD:1349728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12270345 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:2893 cervix carcinoma exacerbates ISO RGD:1349728 D RGD:9068941 20210305 RGD mRNA, protein:increased expression:cervix epithelium (human) PMID:24737201|REF_RGD_ID:42722607 12270345 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:3144 cutis laxa ISO RGD:1551771 D RGD:9068941 20220825 MouseDO OMIM:123700 | OMIM:219100 | OMIM:219150 | OMIM:219200 | OMIM:612940 | OMIM:613177 | OMIM:614434 | OMIM:614437 | OMIM:614438 12270345 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:3347 osteosarcoma exacerbates ISO RGD:1349728 D RGD:9068941 20210305 RGD human EFEMP2 knockdown cell line in a mouse model PMID:28339091|REF_RGD_ID:42722011 12270345 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:3376 bone osteosarcoma disease_progression ISO RGD:1349728 D RGD:9068941 20210305 RGD protein:increased expression:bone tissue (human) PMID:27157136|REF_RGD_ID:42722013 12270345 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:3376 bone osteosarcoma exacerbates ISO RGD:1349728 D RGD:9068941 20210305 RGD mRNA, protein:increased expression:bone tissue (human ) PMID:28339091|REF_RGD_ID:42722011 12270345 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:3627 aortic aneurysm ISO RGD:1349728 D RGD:9068941 20210305 RGD DNA:missense mutation:CDS:p.E161K (human) PMID:22440127|REF_RGD_ID:42722009 12270345 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:3627 aortic aneurysm ISO RGD:1551771 D RGD:9068941 20220825 MouseDO 12270345 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:630 genetic disease ISO RGD:1349728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12270345 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:8398 osteoarthritis ISO RGD:1359496 D RGD:9068941 20210305 RGD mRNA:increased expression:articular cartilage of joint (rat) PMID:31396630|REF_RGD_ID:42722015 12270345 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:1349728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, recessive 12270345 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17929269 12270345 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1349728 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12270345 EFEMP2 EGF containing fibulin extracellular matrix protein 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1349728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:734332 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:11212236|PMID:12202987|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17470566|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18852674|PMID:19006214|PMID:19875893|PMID:19996017|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772377|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24146167|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:25116393|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27100340|PMID:27146836|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:29168297|PMID:29543232|PMID:30158670|PMID:32560555|PMID:8246946|PMID:9395234|PMID:9590282|PMID:9771922|PMID:9927040 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:734332 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:11212236|PMID:12202987|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17470566|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18852674|PMID:19006214|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772377|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24146167|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:25116393|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27100340|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:29168297|PMID:29543232|PMID:30158670|PMID:30739908|PMID:32152251|PMID:32560555|PMID:32887874|PMID:8246946|PMID:9395234|PMID:9590282|PMID:9771922|PMID:9927040 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:734332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:11212236|PMID:12202987|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17470566|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18852674|PMID:19006214|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20628007|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21270064|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772377|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24146167|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:25116393|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27100340|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:28991257|PMID:29168297|PMID:29543232|PMID:29907982|PMID:30158670|PMID:30739908|PMID:32152251|PMID:32560555|PMID:32887874|PMID:8246946|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0060320 inguinal hernia ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16885183 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:734332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 2 PMID:25326637|PMID:25741868 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:7240710 20180130 OMIM 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16333834|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20358619|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27100340|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30158670|PMID:30341550|PMID:34008892|PMID:8246946|PMID:8317497|PMID:9590282|PMID:9771922|PMID:9927040 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16333834|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19816028|PMID:19875893|PMID:19996017|PMID:20358619|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:27100340|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30158670|PMID:30341550|PMID:31769227|PMID:32528524|PMID:33726816|PMID:34008892|PMID:35535697|PMID:8246946|PMID:8317497|PMID:9590282|PMID:9771922|PMID:9927040 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16333834|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19816028|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21324918|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26877057|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675401|PMID:31098894|PMID:31769227|PMID:32420711|PMID:32528524|PMID:33083483|PMID:33726816|PMID:34008892|PMID:35535697|PMID:8246946|PMID:8317497|PMID:9590282|PMID:9771922|PMID:9927040 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16333834|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19816028|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21324918|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772368|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25786579|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26877057|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675401|PMID:31098894|PMID:31769227|PMID:32420711|PMID:32528524|PMID:33083483|PMID:33726816|PMID:34008892|PMID:35535697|PMID:8246946|PMID:8317497|PMID:9590282|PMID:9771922|PMID:9927040 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16333834|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19816028|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21324918|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772368|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26848186|PMID:26877057|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28991257|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675401|PMID:31098894|PMID:31769227|PMID:32420711|PMID:32528524|PMID:33083483|PMID:33726816|PMID:33824467|PMID:34008892|PMID:35535697|PMID:8246946|PMID:8317497|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16333834|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19816028|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772368|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26848186|PMID:26877057|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28991257|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675401|PMID:31098894|PMID:31769227|PMID:32420711|PMID:32528524|PMID:32897753|PMID:33083483|PMID:33726816|PMID:33824467|PMID:34008892|PMID:35535697|PMID:8246946|PMID:8317497|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0070235 Loeys-Dietz syndrome 1 ISO RGD:734332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 PMID:16251899|PMID:16928994|PMID:18781618|PMID:18852674|PMID:19006214|PMID:21484991|PMID:22095581|PMID:22113417|PMID:22259224|PMID:23884466|PMID:24792536|PMID:25637381|PMID:25741868|PMID:28492532|PMID:30739908|PMID:32152251 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0070273 hereditary nonpolyposis colorectal cancer type 6 ISO RGD:734332 D RGD:7240710 20180130 OMIM 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0070273 hereditary nonpolyposis colorectal cancer type 6 ISO RGD:734332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: COLON CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6 | ClinVar Annotator: match by term: Colon cancer, hereditary nonpolyposis, type 6 | ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 6 PMID:11212236|PMID:12202987|PMID:12825850|PMID:15731757|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:19533785|PMID:19996017|PMID:20956634|PMID:21267002|PMID:21270064|PMID:21524434|PMID:22113417|PMID:22488992|PMID:23103230|PMID:23228659|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24941995|PMID:25116393|PMID:25741868|PMID:25944730|PMID:26017485|PMID:27139629|PMID:27879313|PMID:27930701|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:30341550|PMID:32528524|PMID:32897753|PMID:9536098|PMID:9590282|PMID:9927040 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0080001 bone disease ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20358619 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0110214 cleft soft palate ISO RGD:734333 D RGD:9068941 20220825 MouseDO OMIM:119570 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:734332 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:10283 prostate cancer ISO RGD:734333 D RGD:9068941 20220825 MouseDO OMIM:176807 | OMIM:300147 | OMIM:300704 | OMIM:601518 | OMIM:602759 | OMIM:608656 | OMIM:608658 | OMIM:609299 | OMIM:609558 | OMIM:610321 | OMIM:610997 | OMIM:611100 | OMIM:611868 | OMIM:611928 | OMIM:611955 | OMIM:611958 | OMIM:611959 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:11198 DiGeorge syndrome ISO RGD:734333 D RGD:9068941 20220825 MouseDO OMIM:188400 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:734332 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:11212236|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17935258|PMID:18781618|PMID:21251594|PMID:21524434|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24941995|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27930701|PMID:28492532|PMID:32560555|PMID:8246946|PMID:9395234|PMID:9590282 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:734332 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10789724|PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17599521|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18339844|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20829218|PMID:20838339|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21324918|PMID:21524434|PMID:21949523|PMID:22001912|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22734312|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25925954|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26848186|PMID:27017362|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28166811|PMID:28225382|PMID:28492532|PMID:28659821|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30158670|PMID:30341550|PMID:30675029|PMID:31769227|PMID:32560555|PMID:33726816|PMID:35535697|PMID:7664267|PMID:7862150|PMID:8246946|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:734332 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10789724|PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15299527|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17599521|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18339844|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20628007|PMID:20829218|PMID:20838339|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:21949523|PMID:22001912|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22734312|PMID:22772368|PMID:22772377|PMID:23099432|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25786579|PMID:25925954|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26848186|PMID:26877057|PMID:27017362|PMID:27100340|PMID:27112580|PMID:27125181|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28166811|PMID:28225382|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:29768367|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675029|PMID:30675401|PMID:30739908|PMID:31098894|PMID:31769227|PMID:32152251|PMID:32420711|PMID:32528524|PMID:32560555|PMID:32887874|PMID:33083483|PMID:33726816|PMID:35535697|PMID:7664267|PMID:7862150|PMID:8246946|PMID:8555189|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:734332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10789724|PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15299527|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17599521|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18339844|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20681224|PMID:20829218|PMID:20838339|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:21949523|PMID:22001912|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22563345|PMID:22734312|PMID:22772368|PMID:22772377|PMID:23099432|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24146167|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25925954|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26301661|PMID:26848186|PMID:26877057|PMID:27017362|PMID:27100340|PMID:27112580|PMID:27125181|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:29768367|PMID:29907982|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675029|PMID:30675401|PMID:30739908|PMID:31098894|PMID:31769227|PMID:31915033|PMID:32152251|PMID:32420711|PMID:32528524|PMID:32560555|PMID:32887874|PMID:33083483|PMID:33726816|PMID:33824467|PMID:34422331|PMID:35535697|PMID:36007983|PMID:7664267|PMID:7862150|PMID:8246946|PMID:8555189|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:734332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10789724|PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15299527|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17599521|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18339844|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20681224|PMID:20829218|PMID:20838339|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:21949523|PMID:22001912|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22563345|PMID:22734312|PMID:22772368|PMID:22772377|PMID:23099432|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24146167|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25741868|PMID:25925954|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26301661|PMID:26848186|PMID:26877057|PMID:27017362|PMID:27100340|PMID:27112580|PMID:27125181|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:29768367|PMID:29907982|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675029|PMID:30675401|PMID:30739908|PMID:31098894|PMID:31769227|PMID:31915033|PMID:32152251|PMID:32420711|PMID:32528524|PMID:32560555|PMID:32887874|PMID:33083483|PMID:33726816|PMID:33824467|PMID:34422331|PMID:35535697|PMID:36007983|PMID:7664267|PMID:7862150|PMID:8246946|PMID:8555189|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:734332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10789724|PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15299527|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17599521|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18339844|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20681224|PMID:20829218|PMID:20838339|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:21949523|PMID:22001912|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22563345|PMID:22734312|PMID:22772368|PMID:22772377|PMID:23099432|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24146167|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25741868|PMID:25925954|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26301661|PMID:26848186|PMID:26877057|PMID:27017362|PMID:27100340|PMID:27112580|PMID:27125181|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:29768367|PMID:29907982|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675029|PMID:30675401|PMID:30739908|PMID:31098894|PMID:31769227|PMID:31915033|PMID:32152251|PMID:32420711|PMID:32528524|PMID:32560555|PMID:32887874|PMID:32897753|PMID:33083483|PMID:33726816|PMID:33824467|PMID:34422331|PMID:35535697|PMID:36007983|PMID:7664267|PMID:7862150|PMID:8246946|PMID:8555189|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:14323 Marfan syndrome ISO RGD:734332 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan's syndrome PMID:11212236|PMID:12825850|PMID:16249459|PMID:16251899|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17345643|PMID:17470566|PMID:17935258|PMID:18781618|PMID:18852674|PMID:19006214|PMID:19875893|PMID:21251594|PMID:21524434|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24941995|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27930701|PMID:28492532|PMID:30158670|PMID:30739908|PMID:32152251|PMID:8246946|PMID:9395234|PMID:9590282|PMID:9771922 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:14323 Marfan syndrome ISO RGD:734332 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:11212236|PMID:12825850|PMID:16249459|PMID:16251899|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17345643|PMID:17470566|PMID:17935258|PMID:18781618|PMID:18852674|PMID:19006214|PMID:19875893|PMID:21251594|PMID:21524434|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24941995|PMID:25203624|PMID:25637381|PMID:25741868|PMID:25786579|PMID:26017485|PMID:26133393|PMID:27930701|PMID:28492532|PMID:30158670|PMID:30739908|PMID:32152251|PMID:8246946|PMID:9395234|PMID:9590282|PMID:9771922 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:14323 Marfan syndrome ISO RGD:734332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:11212236|PMID:12825850|PMID:16249459|PMID:16251899|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17345643|PMID:17470566|PMID:17935258|PMID:18781618|PMID:18852674|PMID:19006214|PMID:19875893|PMID:21251594|PMID:21524434|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24941995|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27930701|PMID:28492532|PMID:29907982|PMID:30158670|PMID:30739908|PMID:32152251|PMID:8246946|PMID:9395234|PMID:9590282|PMID:9771922 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:14323 Marfan syndrome susceptibility ISO RGD:734332 D RGD:9068941 20200609 RGD DNA:point mutation, missense mutations: :multiple PMID:15235604|REF_RGD_ID:1579928 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:1793 pancreatic cancer ISO RGD:734332 D RGD:9068941 20200609 RGD DNA:deletion, frameshift mutations (human) PMID:9850059|REF_RGD_ID:2317501 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:1793 pancreatic cancer ISO RGD:734332 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:1793 pancreatic cancer ISO RGD:734332 D RGD:9068941 20200609 RGD protein:increased expresssion:pancreas PMID:11866987|REF_RGD_ID:2317499 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:734332 D RGD:9068941 20200609 RGD mRNA:increased expresssion:pancreas PMID:9365135|REF_RGD_ID:2317502 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:219 colon cancer ISO RGD:734332 D RGD:9068941 20200609 RGD DNA:mutation:polyadenine tract PMID:14988818|REF_RGD_ID:2301065 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:2349 arteriosclerosis ISO RGD:734332 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:16733295|REF_RGD_ID:1580959 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:69651 D RGD:9068941 20200609 RGD PMID:11703592|REF_RGD_ID:1601601 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:305 carcinoma ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10789724 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:734333 D RGD:9068941 20200609 RGD PMID:17114585|REF_RGD_ID:2317498 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:734332 D RGD:9068941 20200609 RGD mRNA:increased expresssion:pancreas PMID:10547197|REF_RGD_ID:2317500 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:3627 aortic aneurysm ISO RGD:734332 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ascending aortic dilation PMID:16791849|PMID:17061023|PMID:18781618|PMID:24033266|PMID:24793577|PMID:25741868|PMID:28492532|PMID:32560555 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:69651 D RGD:9068941 20200609 RGD PMID:17077588|REF_RGD_ID:1601591 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:734332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:18781618|PMID:27879313|PMID:28492532 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:3883 Lynch syndrome ISO RGD:734332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:25741868|PMID:28492532|PMID:28659821 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:4762 vasculogenic impotence ISO RGD:734332 D RGD:9068941 20200609 RGD protein:increased expression:penis erectile tissue PMID:14718046|REF_RGD_ID:1601627 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:4947 cholangiocarcinoma ISO RGD:69651 D RGD:9068941 20200609 RGD mRNA:increased expression:bile duct PMID:12632524|REF_RGD_ID:1299231 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:5041 esophageal cancer ISO RGD:734332 D RGD:7240710 20180418 OMIM 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:5041 esophageal cancer ISO RGD:734332 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Esophagus cancer PMID:10789724|PMID:11212236|PMID:12202987|PMID:12825850|PMID:15731757|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18339844|PMID:18781618|PMID:19533785|PMID:20358619|PMID:21267002|PMID:21270064|PMID:21524434|PMID:22113417|PMID:23228659|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24941995|PMID:25741868|PMID:25944730|PMID:26017485|PMID:27139629|PMID:27879313|PMID:27930701|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:30341550|PMID:32528524|PMID:32897753|PMID:7664267|PMID:9536098 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:557 kidney disease ISO RGD:69651 D RGD:9068941 20200609 RGD chronic nephrotoxicity;mRNA, protein:increased expression:kidney PMID:16980036|REF_RGD_ID:1601593 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:5844 myocardial infarction ISO RGD:69651 D RGD:9068941 20200609 RGD protein:increased expression:myocardium PMID:10198196|REF_RGD_ID:1601617 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:630 genetic disease ISO RGD:734332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15731757|PMID:16928994|PMID:18852674|PMID:20628007|PMID:22772377|PMID:23884466|PMID:25741868|PMID:27139629|PMID:27879313|PMID:28182693|PMID:28344185|PMID:28492532|PMID:28991257 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:6364 migraine ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16885183 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:6432 pulmonary hypertension ISO RGD:69651 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:17392319|REF_RGD_ID:1601116 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:65 connective tissue disease ISO RGD:734332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disease PMID:15235604|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17344846|PMID:18781618|PMID:19996017|PMID:24033266|PMID:24793577|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26133393|PMID:27100340|PMID:27879313|PMID:28225382|PMID:28492532|PMID:29543232|PMID:8246946|PMID:9395234 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:69651 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:14585397|REF_RGD_ID:1601598 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:687 hepatoblastoma ISO RGD:734332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9000027 Microsatellite Instability ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956|PMID:7761852 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9000111 Radiation Injuries ISO RGD:69651 D RGD:9068941 20200609 RGD PMID:12957270|REF_RGD_ID:1601599 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10789724 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16489006 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:734332 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:12808151|REF_RGD_ID:737735 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69651 D RGD:9068941 20200609 RGD PMID:16627068|REF_RGD_ID:1579923 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15942678|PMID:16627068 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:69651 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496156 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9002221 Hyperplasia ISO RGD:69651 D RGD:9068941 20200609 RGD mRNA:increased expression:bile duct, duct epithelial cell PMID:12632524|REF_RGD_ID:1299231 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18381416 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9002457 Experimental Arthritis ISO RGD:69651 D RGD:9068941 20200609 RGD protein:increased expression:synovium PMID:9010265|REF_RGD_ID:1601623 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9002589 Bone Fractures ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20358619 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7761852 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9004009 Reperfusion Injury ISO RGD:69651 D RGD:9068941 20200609 RGD PMID:15613744|REF_RGD_ID:1579926 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9004039 Marfan Syndrome Type 2 ISO RGD:734332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Marfan Syndrome type 2 | ClinVar Annotator: match by term: Marfan like connective tissue disorder PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20628007|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772368|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26848186|PMID:26877057|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28225382|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675401|PMID:31098894|PMID:31769227|PMID:32420711|PMID:32528524|PMID:32897753|PMID:33083483|PMID:33726816|PMID:33824467|PMID:35535697|PMID:8246946|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:734332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:11212236|PMID:12825850|PMID:16249459|PMID:16251899|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17345643|PMID:17470566|PMID:17935258|PMID:18781618|PMID:18852674|PMID:19006214|PMID:19875893|PMID:21251594|PMID:21524434|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24941995|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27930701|PMID:28492532|PMID:29907982|PMID:30158670|PMID:30739908|PMID:32152251|PMID:8246946|PMID:9395234|PMID:9590282|PMID:9771922 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9004389 Bone Neoplasms ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16489006 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11074608 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734332 D RGD:9068941 20200609 RGD PMID:12808151|REF_RGD_ID:737735 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9006045 Dissecting Aneurysm ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16027248|PMID:16885183 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9006193 Loeys-Dietz Syndrome, Type 1b ISO RGD:734332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20628007|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772368|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26848186|PMID:26877057|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28225382|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675401|PMID:31098894|PMID:31769227|PMID:32420711|PMID:32528524|PMID:32897753|PMID:33083483|PMID:33726816|PMID:33824467|PMID:35535697|PMID:8246946|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9006617 Fatigue ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16885183 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9007502 Brain Neoplasms ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9008296 Eye Abnormalities ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16885183 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:734332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: AAT1 PMID:11212236|PMID:16791849|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17935258|PMID:18781618|PMID:21270064|PMID:21524434|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24941995|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27930701|PMID:28492532|PMID:8246946 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16368934|PMID:16885183 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9256 colorectal cancer ISO RGD:734332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25741868|PMID:28492532|PMID:9590282 12270363 TGFBR2 transforming growth factor beta receptor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69651 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:11947899|REF_RGD_ID:1601600 12270383 GPR149 G protein-coupled receptor 149 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1346454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12270383 GPR149 G protein-coupled receptor 149 gene DOID:630 genetic disease ISO RGD:1346454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12270391 AZIN2 antizyme inhibitor 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12270391 AZIN2 antizyme inhibitor 2 gene DOID:630 genetic disease ISO RGD:1606188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12270421 HACD3 3-hydroxyacyl-CoA dehydratase 3 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1605074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12270421 HACD3 3-hydroxyacyl-CoA dehydratase 3 gene DOID:2717 Bloom syndrome ISO RGD:1605074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12270421 HACD3 3-hydroxyacyl-CoA dehydratase 3 gene DOID:630 genetic disease ISO RGD:1605074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12270421 HACD3 3-hydroxyacyl-CoA dehydratase 3 gene DOID:9256 colorectal cancer ISO RGD:1605074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12270436 ABHD10 abhydrolase domain containing 10, depalmitoylase gene DOID:630 genetic disease ISO RGD:1346003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12270449 SYT14 synaptotagmin 14 gene DOID:0080063 autosomal recessive spinocerebellar ataxia 11 ISO RGD:1345341 D RGD:7240710 20180130 OMIM 12270449 SYT14 synaptotagmin 14 gene DOID:0080063 autosomal recessive spinocerebellar ataxia 11 ISO RGD:1345341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 11 PMID:21835308|PMID:25741868|PMID:26467025 12270449 SYT14 synaptotagmin 14 gene DOID:1540 parathyroid carcinoma ISO RGD:1345341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12270449 SYT14 synaptotagmin 14 gene DOID:630 genetic disease ISO RGD:1345341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025 12270449 SYT14 synaptotagmin 14 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1345341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12270449 SYT14 synaptotagmin 14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12270461 UNC45B unc-45 myosin chaperone B gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:1313830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 12270461 UNC45B unc-45 myosin chaperone B gene DOID:0110259 cataract 43 ISO RGD:1313830 D RGD:7240710 20180130 OMIM 12270461 UNC45B unc-45 myosin chaperone B gene DOID:0110259 cataract 43 ISO RGD:1313830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 43 PMID:24549050|PMID:25741868 12270461 UNC45B unc-45 myosin chaperone B gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1313830 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A 12270461 UNC45B unc-45 myosin chaperone B gene DOID:114 heart disease ISO RGD:1313830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17189627 12270461 UNC45B unc-45 myosin chaperone B gene DOID:423 myopathy ISO RGD:1313830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:31852522|PMID:33217308 12270461 UNC45B unc-45 myosin chaperone B gene DOID:630 genetic disease ISO RGD:1313830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12356907|PMID:17189627|PMID:17586488|PMID:19348700|PMID:19504455|PMID:19834024|PMID:19854944|PMID:24549050|PMID:25348405|PMID:28492532|PMID:2981587 12270461 UNC45B unc-45 myosin chaperone B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12270461 UNC45B unc-45 myosin chaperone B gene DOID:9005246 Paralysis ISO RGD:1313830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17189627 12270461 UNC45B unc-45 myosin chaperone B gene DOID:9007506 Myofibrillar Myopathy 11 ISO RGD:1313830 D RGD:7240710 20210303 OMIM 12270461 UNC45B unc-45 myosin chaperone B gene DOID:9007506 Myofibrillar Myopathy 11 ISO RGD:1313830 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 11 PMID:25741868|PMID:31852522|PMID:33217308 12270461 UNC45B unc-45 myosin chaperone B gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1313830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17189627 12270492 ZFAND2A zinc finger AN1-type containing 2A gene DOID:630 genetic disease ISO RGD:1604554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12270503 PCYOX1 prenylcysteine oxidase 1 gene DOID:630 genetic disease ISO RGD:1350972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12270503 PCYOX1 prenylcysteine oxidase 1 gene DOID:9004657 Weight Gain ISO RGD:1350972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12270513 FAM83H family with sequence similarity 83 member H gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1603342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12270513 FAM83H family with sequence similarity 83 member H gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1603342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12270513 FAM83H family with sequence similarity 83 member H gene DOID:0110055 amelogenesis imperfecta type 3A ISO RGD:1603342 D RGD:7240710 20180130 OMIM 12270513 FAM83H family with sequence similarity 83 member H gene DOID:0110055 amelogenesis imperfecta type 3A ISO RGD:1603342 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA PMID:18252228|PMID:18484629|PMID:19220331|PMID:19407157|PMID:22414746|PMID:25741868|PMID:28492532|PMID:33034243 12270513 FAM83H family with sequence similarity 83 member H gene DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 ISO RGD:1603342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 12270513 FAM83H family with sequence similarity 83 member H gene DOID:2187 amelogenesis imperfecta ISO RGD:1603342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18484629|PMID:19407157 12270513 FAM83H family with sequence similarity 83 member H gene DOID:4621 holoprosencephaly ISO RGD:1603342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12270513 FAM83H family with sequence similarity 83 member H gene DOID:630 genetic disease ISO RGD:1603342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12270513 FAM83H family with sequence similarity 83 member H gene DOID:9001593 Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis IAGP D RGD:12801476 20210603 OMIA Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis PMID:22212237|PMID:16961470|PMID:22253609|PMID:22339941|PMID:29284193|PMID:30650096 12270513 FAM83H family with sequence similarity 83 member H gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1603342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12270513 FAM83H family with sequence similarity 83 member H gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1603342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19407157 12270529 ADCYAP1R1 ADCYAP receptor type I gene DOID:1679 cystitis ISO RGD:2038 D RGD:9068941 20200609 RGD mRNA:increased expression:urothelium, detrusor muscle (rat) PMID:18563302|REF_RGD_ID:2315964 12270529 ADCYAP1R1 ADCYAP receptor type I gene DOID:2841 asthma ISO RGD:736792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21059121 12270529 ADCYAP1R1 ADCYAP receptor type I gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12270529 ADCYAP1R1 ADCYAP receptor type I gene DOID:630 genetic disease ISO RGD:736792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12270529 ADCYAP1R1 ADCYAP receptor type I gene DOID:9004009 Reperfusion Injury ISO RGD:2038 D RGD:9068941 20200609 RGD mRNA:decreased expression:dentate gyrus (rat) PMID:19647005|REF_RGD_ID:2315956 12270559 NPAS1 neuronal PAS domain protein 1 gene DOID:630 genetic disease ISO RGD:1320711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12270575 PLD3 phospholipase D family member 3 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:15197604|PMID:15469949|PMID:16770524|PMID:22847150|PMID:24011642|PMID:25741868|PMID:26059842|PMID:28492532|PMID:32376792 12270575 PLD3 phospholipase D family member 3 gene DOID:0080288 spinocerebellar ataxia 46 ISO RGD:1317914 D RGD:7240710 20190315 OMIM 12270575 PLD3 phospholipase D family member 3 gene DOID:0080288 spinocerebellar ataxia 46 ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 46 PMID:15197604|PMID:15469949|PMID:16770524|PMID:22847150|PMID:24011642|PMID:25741868|PMID:26059842|PMID:28492532|PMID:29053796|PMID:32376792|PMID:8595484 12270575 PLD3 phospholipase D family member 3 gene DOID:0080600 COVID-19 ISO RGD:1317914 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12270575 PLD3 phospholipase D family member 3 gene DOID:0110051 Alzheimer's disease 19 ISO RGD:1317914 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Alzheimer disease 19 PMID:24336208|PMID:25832408|PMID:25832410|PMID:25832411|PMID:28492532 12270575 PLD3 phospholipase D family member 3 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1317914 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12270575 PLD3 phospholipase D family member 3 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:15197604|PMID:15469949|PMID:16770524|PMID:22847150|PMID:24011642|PMID:25741868|PMID:26059842|PMID:28492532|PMID:32376792 12270575 PLD3 phospholipase D family member 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12270575 PLD3 phospholipase D family member 3 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12270575 PLD3 phospholipase D family member 3 gene DOID:2340 craniosynostosis ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12270575 PLD3 phospholipase D family member 3 gene DOID:630 genetic disease ISO RGD:1317914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12270575 PLD3 phospholipase D family member 3 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12270575 PLD3 phospholipase D family member 3 gene DOID:9269 maple syrup urine disease ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12270575 PLD3 phospholipase D family member 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317914 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12270601 FGF14 fibroblast growth factor 14 gene DOID:0050976 spinocerebellar ataxia type 27 ISO RGD:1343584 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Nystagmus 4, congenital, autosomal dominant | ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 PMID:12489043|PMID:15470364|PMID:17978045|PMID:194719761|PMID:21681106|PMID:25566820|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30017992|PMID:32162847|PMID:5470364 12270601 FGF14 fibroblast growth factor 14 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1343584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 12270601 FGF14 fibroblast growth factor 14 gene DOID:1222 cartilage disease ISO RGD:1343584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11241832 12270601 FGF14 fibroblast growth factor 14 gene DOID:12849 autistic disorder ISO RGD:1343584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 12270601 FGF14 fibroblast growth factor 14 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1343584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia 12270601 FGF14 fibroblast growth factor 14 gene DOID:14701 propionic acidemia ISO RGD:1343584 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 12270601 FGF14 fibroblast growth factor 14 gene DOID:1561 cognitive disorder ISO RGD:1343584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26089778 12270601 FGF14 fibroblast growth factor 14 gene DOID:630 genetic disease ISO RGD:1343584 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12270601 FGF14 fibroblast growth factor 14 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1343584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12270601 FGF14 fibroblast growth factor 14 gene DOID:9006316 Spinocerebellar Ataxia 27A ISO RGD:1343584 D RGD:7240710 20230104 OMIM 12270601 FGF14 fibroblast growth factor 14 gene DOID:9006713 Spinocerebellar Ataxia 27B ISO RGD:1343584 D RGD:7240710 20230104 OMIM 12270601 FGF14 fibroblast growth factor 14 gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:1343584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 12270613 ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0050729 neutral lipid storage disease ISO RGD:1342875 D RGD:7240710 20180130 OMIM 12270613 ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0050729 neutral lipid storage disease ISO RGD:1342875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis PMID:11590543|PMID:15136565|PMID:20022472|PMID:20520629|PMID:25741868|PMID:27025581|PMID:28492532|PMID:29130490|PMID:31883530|PMID:6181472 12270613 ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0050729 neutral lipid storage disease ISO RGD:1342875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis PMID:11590543|PMID:15136565|PMID:20022472|PMID:20520629|PMID:22373837|PMID:25741868|PMID:27025581|PMID:28492532|PMID:29130490|PMID:31883530|PMID:6181472 12270613 ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0060656 autosomal recessive congenital ichthyosis 1 susceptibility ISO RGD:1342875 D RGD:9068941 20200609 RGD PMID:11590543|REF_RGD_ID:1598668 12270613 ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1342875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 12270613 ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:234 colon adenocarcinoma ISO RGD:1342875 D RGD:9068941 20220721 RGD human cells in mouse model PMID:30842415|REF_RGD_ID:153002829 12270613 ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:234 colon adenocarcinoma disease_progression ISO RGD:1342875 D RGD:9068941 20220721 RGD mRNA:decreased expression:colon (human) PMID:30842415|REF_RGD_ID:153002829 12270613 ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:630 genetic disease ISO RGD:1342875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12270625 SLC16A14 solute carrier family 16 member 14 gene DOID:630 genetic disease ISO RGD:1320146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12270634 ADGRB2 adhesion G protein-coupled receptor B2 gene DOID:0080600 COVID-19 ISO RGD:1319770 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12270634 ADGRB2 adhesion G protein-coupled receptor B2 gene DOID:630 genetic disease ISO RGD:1319770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12270634 ADGRB2 adhesion G protein-coupled receptor B2 gene DOID:9002598 Spastic Paraparesis ISO RGD:1319770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive spastic paraparesis PMID:28891236 12270684 FOXI1 forkhead box I1 gene DOID:0060744 Pendred syndrome ISO RGD:1316609 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome PMID:17503324|PMID:25741868|PMID:28492532|PMID:30311386 12270684 FOXI1 forkhead box I1 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:1316609 D RGD:7240710 20180130 OMIM 12270684 FOXI1 forkhead box I1 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:1316609 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 PMID:17503324|PMID:20621367|PMID:20809947|PMID:24860705|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386 12270684 FOXI1 forkhead box I1 gene DOID:0111951 immunodeficiency 40 ISO RGD:1316609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 12270684 FOXI1 forkhead box I1 gene DOID:630 genetic disease ISO RGD:1316609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12270684 FOXI1 forkhead box I1 gene DOID:9004538 Hearing Loss ISO RGD:1316609 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed PMID:25741868|PMID:30311386 12270684 FOXI1 forkhead box I1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1316609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 12270690 GALNS galactosamine (N-acetyl)-6-sulfatase gene DOID:0060041 autism spectrum disorder ISO RGD:1343157 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12270690 GALNS galactosamine (N-acetyl)-6-sulfatase gene DOID:0060350 adenine phosphoribosyltransferase deficiency ISO RGD:1343157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency PMID:25741868|PMID:28492532 12270690 GALNS galactosamine (N-acetyl)-6-sulfatase gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1343157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 12270690 GALNS galactosamine (N-acetyl)-6-sulfatase gene DOID:0080006 bone development disease ISO RGD:1343157 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:1522213|PMID:20574428|PMID:22521955|PMID:23137060|PMID:25252036|PMID:25545067|PMID:25741868|PMID:28492532|PMID:30305043|PMID:31200731|PMID:31991612|PMID:32024277|PMID:34387910|PMID:9298823 12270690 GALNS galactosamine (N-acetyl)-6-sulfatase gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1343157 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12270690 GALNS galactosamine (N-acetyl)-6-sulfatase gene DOID:0111391 mucopolysaccharidosis IVA ISO RGD:1343157 D RGD:7240710 20191030 OMIM 12270690 GALNS galactosamine (N-acetyl)-6-sulfatase gene DOID:0111391 mucopolysaccharidosis IVA ISO RGD:1343157 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:10479485|PMID:10699374|PMID:10814710|PMID:11524742|PMID:12442278|PMID:12721840|PMID:12955720|PMID:1522213|PMID:15235041|PMID:15241807|PMID:15309681|PMID:15689448|PMID:16199547|PMID:16287098|PMID:16378744|PMID:16837223|PMID:16959974|PMID:17576681|PMID:17876718|PMID:18484607|PMID:18710657|PMID:18792995|PMID:19881469|PMID:20301515|PMID:20301788|PMID:20574428|PMID:21506915|PMID:21644215|PMID:21896407|PMID:21943391|PMID:22078177|PMID:22178352|PMID:22327063|PMID:22487817|PMID:22521955|PMID:22940367|PMID:22976768|PMID:23137060|PMID:23227063|PMID:23313879|PMID:23401410|PMID:23844448|PMID:23876334|PMID:24033266|PMID:24035930|PMID:24120057|PMID:24389823|PMID:24411403|PMID:24726177|PMID:24767253|PMID:24773188|PMID:24875751|PMID:25137622|PMID:25252036|PMID:25287660|PMID:25364648|PMID:25433535|PMID:25501214|PMID:25545067|PMID:25640679|PMID:25741868|PMID:26112015|PMID:26147980|PMID:26276046|PMID:26502894|PMID:27243974|PMID:27317439|PMID:27331011|PMID:27825773|PMID:28397226|PMID:28492532|PMID:28844463|PMID:29275451|PMID:29426755|PMID:29620724|PMID:29731656|PMID:29779902|PMID:29869463|PMID:30023300|PMID:30091983|PMID:30094185|PMID:30138938|PMID:30305043|PMID:30458289|PMID:30487145|PMID:30797135|PMID:30809705|PMID:30927141|PMID:30980944|PMID:31200731|PMID:3129221|PMID:31732130|PMID:31991612|PMID:32014045|PMID:32024277|PMID:32102177|PMID:32183856|PMID:32216080|PMID:32860008|PMID:32905071|PMID:32993725|PMID:33256811|PMID:33304816|PMID:33726816|PMID:33752727|PMID:34008892|PMID:34387910|PMID:34573925|PMID:34813777|PMID:34828358|PMID:35094026|PMID:35782601|PMID:36077388|PMID:7581409|PMID:7633425|PMID:7668283|PMID:7795586|PMID:7987329|PMID:8651279|PMID:8826435|PMID:8829629|PMID:8844220|PMID:9290256|PMID:9298823|PMID:9375852|PMID:9385378|PMID:9401012|PMID:9521421|PMID:9536098|PMID:9660054 12270690 GALNS galactosamine (N-acetyl)-6-sulfatase gene DOID:12804 mucopolysaccharidosis IV ISO RGD:1343157 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Galactosamine-6-sulfatase deficiency | ClinVar Annotator: match by term: Morquio syndrome PMID:10814710|PMID:11524742|PMID:12442278|PMID:12721840|PMID:15235041|PMID:15241807|PMID:15309681|PMID:16287098|PMID:16837223|PMID:16959974|PMID:17876718|PMID:18710657|PMID:20574428|PMID:21506915|PMID:22521955|PMID:22940367|PMID:22976768|PMID:23227063|PMID:23401410|PMID:23844448|PMID:23876334|PMID:24033266|PMID:24035930|PMID:24120057|PMID:24389823|PMID:24726177|PMID:24773188|PMID:25137622|PMID:25252036|PMID:25287660|PMID:25433535|PMID:25501214|PMID:25545067|PMID:25741868|PMID:26112015|PMID:26147980|PMID:26502894|PMID:27317439|PMID:28492532|PMID:28844463|PMID:29275451|PMID:29731656|PMID:29779902|PMID:29869463|PMID:30023300|PMID:30091983|PMID:30094185|PMID:30458289|PMID:30797135|PMID:30809705|PMID:30927141|PMID:30980944|PMID:31200731|PMID:31732130|PMID:32014045|PMID:32183856|PMID:32860008|PMID:32905071|PMID:32993725|PMID:33726816|PMID:34387910|PMID:34813777|PMID:34828358|PMID:35094026|PMID:35782601|PMID:36077388|PMID:7633425|PMID:7668283|PMID:7795586|PMID:8829629|PMID:9298823|PMID:9375852|PMID:9385378|PMID:9401012|PMID:9521421 12270690 GALNS galactosamine (N-acetyl)-6-sulfatase gene DOID:14780 KBG syndrome ISO RGD:1343157 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31690835 12270690 GALNS galactosamine (N-acetyl)-6-sulfatase gene DOID:630 genetic disease ISO RGD:1343157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11524742|PMID:15235041|PMID:16287098|PMID:16837223|PMID:20574428|PMID:21506915|PMID:22940367|PMID:22976768|PMID:23876334|PMID:24035930|PMID:24120057|PMID:24726177|PMID:25137622|PMID:25252036|PMID:25287660|PMID:25545067|PMID:25741868|PMID:27331011|PMID:28492532|PMID:29731656|PMID:30458289|PMID:31200731|PMID:32014045|PMID:34387910|PMID:7633425|PMID:7795586|PMID:9298823|PMID:9375852 12270690 GALNS galactosamine (N-acetyl)-6-sulfatase gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1343157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12270690 GALNS galactosamine (N-acetyl)-6-sulfatase gene DOID:9005372 Inflammation ISO RGD:1343157 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7849337 12270715 SLC6A8 solute carrier family 6 member 8 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1342978 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12270715 SLC6A8 solute carrier family 6 member 8 gene DOID:0050476 Barth syndrome ISO RGD:1342978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12270715 SLC6A8 solute carrier family 6 member 8 gene DOID:0050800 creatine transporter deficiency ISO RGD:1342978 D RGD:7240710 20180130 OMIM 12270715 SLC6A8 solute carrier family 6 member 8 gene DOID:0050800 creatine transporter deficiency ISO RGD:1342978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine deficiency syndrome 1 | ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11326334|PMID:11748843|PMID:11898126|PMID:11968085|PMID:12536364|PMID:12544242|PMID:12889669|PMID:15154114|PMID:15351775|PMID:15689435|PMID:15690373|PMID:15857409|PMID:16080119|PMID:16086185|PMID:16199547|PMID:16427346|PMID:16601897|PMID:16684786|PMID:16738945|PMID:17088400|PMID:17101918|PMID:17172942|PMID:17465020|PMID:17553121|PMID:17576681|PMID:18047645|PMID:18414213|PMID:19188083|PMID:19396829|PMID:19763152|PMID:19846429|PMID:20307669|PMID:20717164|PMID:20730588|PMID:21140503|PMID:21267006|PMID:21556832|PMID:21836662|PMID:21910234|PMID:22281021|PMID:22382802|PMID:22406018|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23408511|PMID:23409742|PMID:23644449|PMID:23660394|PMID:24190795|PMID:24365856|PMID:24962355|PMID:25326635|PMID:25590979|PMID:25741868|PMID:25803912|PMID:25861866|PMID:26467025|PMID:26471271|PMID:26930212|PMID:27408820|PMID:28065824|PMID:28492532|PMID:29334594|PMID:29429461|PMID:30885608|PMID:32207963|PMID:32434645|PMID:32860008|PMID:33624935|PMID:34395220|PMID:9384614|PMID:9536098 12270715 SLC6A8 solute carrier family 6 member 8 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12270715 SLC6A8 solute carrier family 6 member 8 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1342978 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 12270715 SLC6A8 solute carrier family 6 member 8 gene DOID:0112003 immunodeficiency 33 ISO RGD:1342978 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12270715 SLC6A8 solute carrier family 6 member 8 gene DOID:0112123 deafness, dystonia, and cerebral hypomyelination ISO RGD:1342978 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome PMID:24011989 12270715 SLC6A8 solute carrier family 6 member 8 gene DOID:10588 adrenoleukodystrophy ISO RGD:1342978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12270715 SLC6A8 solute carrier family 6 member 8 gene DOID:1059 intellectual disability ISO RGD:1342978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:11326334|PMID:12536364|PMID:12544242|PMID:19188083|PMID:22281021|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30885608|PMID:32207963|PMID:33624935 12270715 SLC6A8 solute carrier family 6 member 8 gene DOID:1059 intellectual disability susceptibility ISO RGD:1342978 D RGD:9068941 20200609 RGD DNA:point mutation: ; 1141G>C PMID:11898126|REF_RGD_ID:1600037 12270715 SLC6A8 solute carrier family 6 member 8 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1342978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12270715 SLC6A8 solute carrier family 6 member 8 gene DOID:12849 autistic disorder ISO RGD:1342978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12270715 SLC6A8 solute carrier family 6 member 8 gene DOID:13628 favism ISO RGD:1342978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12270715 SLC6A8 solute carrier family 6 member 8 gene DOID:1824 status epilepticus ISO RGD:619711 D RGD:9068941 20200609 RGD PMID:20979657|REF_RGD_ID:11565113 12270715 SLC6A8 solute carrier family 6 member 8 gene DOID:1826 epilepsy ISO RGD:1342978 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12270715 SLC6A8 solute carrier family 6 member 8 gene DOID:2729 dyskeratosis congenita ISO RGD:1342978 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12270715 SLC6A8 solute carrier family 6 member 8 gene DOID:607 paraplegia ISO RGD:1342978 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12270715 SLC6A8 solute carrier family 6 member 8 gene DOID:630 genetic disease ISO RGD:1342978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11326334|PMID:12536364|PMID:12544242|PMID:15154114|PMID:16199547|PMID:16738945|PMID:17465020|PMID:18414213|PMID:20717164|PMID:21910234|PMID:22281021|PMID:25741868|PMID:25861866|PMID:26467025|PMID:28492532|PMID:34395220 12270715 SLC6A8 solute carrier family 6 member 8 gene DOID:9002720 Splenomegaly ISO RGD:1342978 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12270715 SLC6A8 solute carrier family 6 member 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12270715 SLC6A8 solute carrier family 6 member 8 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1342978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18350323 12270715 SLC6A8 solute carrier family 6 member 8 gene DOID:9008086 Developmental Disabilities ISO RGD:1342978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11326334 12270715 SLC6A8 solute carrier family 6 member 8 gene DOID:9008582 Developmental Disease ISO RGD:1342978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12270731 BCL2L15 BCL2 like 15 gene DOID:0080690 RASopathy ISO RGD:1603456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12270731 BCL2L15 BCL2 like 15 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1603456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 12270731 BCL2L15 BCL2 like 15 gene DOID:630 genetic disease ISO RGD:1603456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12270739 SLC24A4 solute carrier family 24 member 4 gene DOID:0080054 achondrogenesis type IA ISO RGD:1314247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12270739 SLC24A4 solute carrier family 24 member 4 gene DOID:0110063 amelogenesis imperfecta hypomaturation type 2A5 ISO RGD:1314247 D RGD:7240710 20180130 OMIM 12270739 SLC24A4 solute carrier family 24 member 4 gene DOID:0110063 amelogenesis imperfecta hypomaturation type 2A5 ISO RGD:1314247 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5 PMID:23375655|PMID:24621671|PMID:25741868 12270739 SLC24A4 solute carrier family 24 member 4 gene DOID:2187 amelogenesis imperfecta ISO RGD:1314247 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta 12270739 SLC24A4 solute carrier family 24 member 4 gene DOID:630 genetic disease ISO RGD:1314247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12270739 SLC24A4 solute carrier family 24 member 4 gene DOID:9004829 Skin/Hair/Eye Pigmentation, Variation In, 6 ISO RGD:1314247 D RGD:7240710 20221130 OMIM 12270739 SLC24A4 solute carrier family 24 member 4 gene DOID:9004829 Skin/Hair/Eye Pigmentation, Variation In, 6 ISO RGD:1314247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR PMID:17952075 12270768 TRIM13 tripartite motif containing 13 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1316901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12270768 TRIM13 tripartite motif containing 13 gene DOID:1059 intellectual disability ISO RGD:1316901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12270768 TRIM13 tripartite motif containing 13 gene DOID:630 genetic disease ISO RGD:1316901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12270789 FOXD2 forkhead box D2 gene DOID:630 genetic disease ISO RGD:1312200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12270793 PGLYRP2 peptidoglycan recognition protein 2 gene DOID:630 genetic disease ISO RGD:1346354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12270802 C1QTNF5 C1q and TNF related 5 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1318784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12270802 C1QTNF5 C1q and TNF related 5 gene DOID:0060835 isolated microphthalmia 6 ISO RGD:1318784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 6 PMID:19169412|PMID:25741868|PMID:28492532 12270802 C1QTNF5 C1q and TNF related 5 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1318784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen PMID:12140190|PMID:1258954|PMID:15976030|PMID:16199547|PMID:17167404|PMID:17576681|PMID:18554571|PMID:18648522|PMID:19169412|PMID:19753314|PMID:20361016|PMID:21670352|PMID:22142163|PMID:22605927|PMID:22892318|PMID:23112574|PMID:23127749|PMID:23143909|PMID:23742260|PMID:24088041|PMID:24531000|PMID:25097241|PMID:25412400|PMID:25741868|PMID:26583794|PMID:26633545|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29170418|PMID:29450879|PMID:30181649|PMID:30653986|PMID:31106028|PMID:31992737|PMID:32052405|PMID:32118495|PMID:32830442|PMID:32996714|PMID:33203948|PMID:9536098 12270802 C1QTNF5 C1q and TNF related 5 gene DOID:0060869 late-onset retinal degeneration ISO RGD:1318784 D RGD:7240710 20180130 OMIM 12270802 C1QTNF5 C1q and TNF related 5 gene DOID:0060869 late-onset retinal degeneration ISO RGD:1318784 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Late-onset retinal degeneration | ClinVar Annotator: match by term: RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT PMID:12140190|PMID:12944416|PMID:15976030|PMID:16199547|PMID:18648522|PMID:19169412|PMID:20361016|PMID:22142163|PMID:22892318|PMID:23289492|PMID:24531000|PMID:25097241|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28939808|PMID:29847639|PMID:33203948|PMID:33949280 12270802 C1QTNF5 C1q and TNF related 5 gene DOID:0080634 nanophthalmos ISO RGD:1318784 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nanophthalmia PMID:25412400|PMID:25741868|PMID:26583794|PMID:28492532|PMID:29170418|PMID:30181649 12270802 C1QTNF5 C1q and TNF related 5 gene DOID:0080690 RASopathy ISO RGD:1318784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12270802 C1QTNF5 C1q and TNF related 5 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1318784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12270802 C1QTNF5 C1q and TNF related 5 gene DOID:0111971 immunodeficiency 18 ISO RGD:1318784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12270802 C1QTNF5 C1q and TNF related 5 gene DOID:0111972 immunodeficiency 19 ISO RGD:1318784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12270802 C1QTNF5 C1q and TNF related 5 gene DOID:0111973 immunodeficiency 17 ISO RGD:1318784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12270802 C1QTNF5 C1q and TNF related 5 gene DOID:110 lens disease ISO RGD:1318784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123441 12270802 C1QTNF5 C1q and TNF related 5 gene DOID:4448 macular degeneration ISO RGD:1318784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123441 12270802 C1QTNF5 C1q and TNF related 5 gene DOID:5419 schizophrenia ISO RGD:1318784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12270802 C1QTNF5 C1q and TNF related 5 gene DOID:630 genetic disease ISO RGD:1318784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12270802 C1QTNF5 C1q and TNF related 5 gene DOID:8466 retinal degeneration ISO RGD:1318784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:18648522|PMID:19169412|PMID:22892318|PMID:24531000|PMID:25741868|PMID:28492532 12270802 C1QTNF5 C1q and TNF related 5 gene DOID:8501 fundus dystrophy ISO RGD:1318784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12140190|PMID:12944416|PMID:15976030|PMID:16199547|PMID:20361016|PMID:22142163|PMID:23289492|PMID:24531000|PMID:25097241|PMID:25326637|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28939808|PMID:29847639|PMID:31992737|PMID:32036094 12270802 C1QTNF5 C1q and TNF related 5 gene DOID:9002122 Nanophthalmos 2 ISO RGD:1318784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nanophthalmos 2 PMID:12140190|PMID:1258954|PMID:15976030|PMID:17167404|PMID:18554571|PMID:19753314|PMID:20361016|PMID:22605927|PMID:23112574|PMID:23143909|PMID:28492532|PMID:32996714 12270802 C1QTNF5 C1q and TNF related 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1318784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12270802 C1QTNF5 C1q and TNF related 5 gene DOID:9007661 Dwarfism ISO RGD:1318784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12270808 ADD2 adducin 2 gene DOID:0110916 hereditary spherocytosis type 1 ISO RGD:10087 D RGD:9068941 20220825 MouseDO OMIM:182900 12270808 ADD2 adducin 2 gene DOID:10763 hypertension ISO RGD:2042 D RGD:9068941 20200609 RGD PMID:2059221|REF_RGD_ID:631712 12270808 ADD2 adducin 2 gene DOID:10763 hypertension ISO RGD:736575 D RGD:9068941 20200609 RGD DNA:SNP: :rs4852706 (human) PMID:24652215|REF_RGD_ID:10047131 12270808 ADD2 adducin 2 gene DOID:10763 hypertension no_association ISO RGD:736575 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16497648|REF_RGD_ID:1625293 12270808 ADD2 adducin 2 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:736575 D RGD:9068941 20200609 RGD DNA:polymorphism:cds: rs4984(human) PMID:19838659|REF_RGD_ID:7174725 12270808 ADD2 adducin 2 gene DOID:576 proteinuria ISO RGD:10087 D RGD:9068941 20200609 RGD PMID:19838659|REF_RGD_ID:7174725 12270808 ADD2 adducin 2 gene DOID:630 genetic disease ISO RGD:736575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12270829 IL36RN interleukin 36 receptor antagonist gene DOID:0080474 pustular psoriasis 14 ISO RGD:1322552 D RGD:7240710 20180130 OMIM 12270829 IL36RN interleukin 36 receptor antagonist gene DOID:0080474 pustular psoriasis 14 ISO RGD:1322552 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ACRODERMATITIS CONTINUA OF HALLOPEAU | ClinVar Annotator: match by term: Generalized pustular psoriasis | ClinVar Annotator: match by term: Psoriasis 14, pustular PMID:16199547|PMID:17576681|PMID:19494218|PMID:21792839|PMID:21839423|PMID:21848462|PMID:22428995|PMID:22903787|PMID:22940634|PMID:23303454|PMID:23358093|PMID:23428889|PMID:23648549|PMID:23698098|PMID:23792462|PMID:23834760|PMID:23863864|PMID:24019411|PMID:24033266|PMID:24898045|PMID:24979538|PMID:25212972|PMID:25427108|PMID:25458002|PMID:25468355|PMID:25615897|PMID:25741868|PMID:25989471|PMID:26100510|PMID:26147717|PMID:26589685|PMID:26676204|PMID:27096382|PMID:27220475|PMID:27388993|PMID:27542682|PMID:27900482|PMID:28063630|PMID:28492532|PMID:28887889|PMID:29030861|PMID:29665114|PMID:29892664|PMID:30036598|PMID:30609409|PMID:30953287|PMID:33729564|PMID:34339530|PMID:9536098 12270829 IL36RN interleukin 36 receptor antagonist gene DOID:289 endometriosis ISO RGD:1322552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometriosis 12270829 IL36RN interleukin 36 receptor antagonist gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1322552 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:17576681|PMID:21839423|PMID:22428995|PMID:22903787|PMID:23303454|PMID:23428889|PMID:23648549|PMID:23698098|PMID:23792462|PMID:23863864|PMID:24033266|PMID:24979538|PMID:25212972|PMID:25427108|PMID:25458002|PMID:25468355|PMID:25741868|PMID:25989471|PMID:26147717|PMID:26589685|PMID:26676204|PMID:27220475|PMID:27388993|PMID:27542682|PMID:28063630|PMID:28492532|PMID:28887889|PMID:29030861|PMID:30036598|PMID:30609409|PMID:9536098 12270829 IL36RN interleukin 36 receptor antagonist gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1322552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:17576681|PMID:21839423|PMID:22428995|PMID:22903787|PMID:23303454|PMID:23428889|PMID:23648549|PMID:23698098|PMID:23792462|PMID:23863864|PMID:24033266|PMID:24979538|PMID:25212972|PMID:25427108|PMID:25458002|PMID:25468355|PMID:25741868|PMID:25989471|PMID:26147717|PMID:26589685|PMID:26676204|PMID:27220475|PMID:27388993|PMID:27542682|PMID:27900482|PMID:28063630|PMID:28492532|PMID:28887889|PMID:29030861|PMID:30036598|PMID:30609409|PMID:9536098 12270829 IL36RN interleukin 36 receptor antagonist gene DOID:630 genetic disease ISO RGD:1322552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12270829 IL36RN interleukin 36 receptor antagonist gene DOID:8893 psoriasis ISO RGD:1322552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12270829 IL36RN interleukin 36 receptor antagonist gene DOID:9007151 Deficiency of Interleukin-1 Receptor Antagonist ISO RGD:1322552 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis PMID:19494218|PMID:21792839|PMID:22940634|PMID:23698098|PMID:26100510|PMID:28492532 12270829 IL36RN interleukin 36 receptor antagonist gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1311212 D RGD:9068941 20210514 RGD PMID:32048631|REF_RGD_ID:126925167 12270839 ERICH5 glutamate rich 5 gene DOID:630 genetic disease ISO RGD:1606129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12270847 P4HTM prolyl 4-hydroxylase, transmembrane gene DOID:1059 intellectual disability ISO RGD:1607023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:30940925 12270847 P4HTM prolyl 4-hydroxylase, transmembrane gene DOID:630 genetic disease ISO RGD:1607023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12270847 P4HTM prolyl 4-hydroxylase, transmembrane gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1607023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12270847 P4HTM prolyl 4-hydroxylase, transmembrane gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1607023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12270847 P4HTM prolyl 4-hydroxylase, transmembrane gene DOID:9003689 HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES ISO RGD:1607023 D RGD:7240710 20190918 OMIM 12270847 P4HTM prolyl 4-hydroxylase, transmembrane gene DOID:9003689 HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES ISO RGD:1607023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES PMID:25078763|PMID:25741868|PMID:30940925 12271009 KIDINS220 kinase D interacting substrate 220 gene DOID:1059 intellectual disability ISO RGD:732181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12271009 KIDINS220 kinase D interacting substrate 220 gene DOID:1969 cerebral palsy ISO RGD:732181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12271009 KIDINS220 kinase D interacting substrate 220 gene DOID:630 genetic disease ISO RGD:732181 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12271009 KIDINS220 kinase D interacting substrate 220 gene DOID:9006183 Ventriculomegaly and Arthrogryposis ISO RGD:732181 D RGD:7240710 20210908 OMIM 12271009 KIDINS220 kinase D interacting substrate 220 gene DOID:9006183 Ventriculomegaly and Arthrogryposis ISO RGD:732181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: VENTRICULOMEGALY AND ARTHROGRYPOSIS PMID:25741868|PMID:28492532|PMID:28934391|PMID:32909676|PMID:33205811 12271009 KIDINS220 kinase D interacting substrate 220 gene DOID:9008346 SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY ISO RGD:732181 D RGD:7240710 20190315 OMIM 12271009 KIDINS220 kinase D interacting substrate 220 gene DOID:9008346 SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY ISO RGD:732181 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity PMID:17576681|PMID:25741868|PMID:27005418|PMID:28492532|PMID:28934391|PMID:29667355|PMID:9536098 12271051 C6H1orf146 chromosome 6 C1orf146 homolog gene DOID:630 genetic disease ISO RGD:1603476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12271081 STRIP2 striatin interacting protein 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12271081 STRIP2 striatin interacting protein 2 gene DOID:630 genetic disease ISO RGD:1344527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12271106 NT5C 5', 3'-nucleotidase, cytosolic gene DOID:630 genetic disease ISO RGD:1353894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12271106 NT5C 5', 3'-nucleotidase, cytosolic gene DOID:9008443 Colorectal Neoplasms ISO RGD:1353894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 12271114 FZD10 frizzled class receptor 10 gene DOID:630 genetic disease ISO RGD:1347205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12271119 NIPBL NIPBL cohesin loading factor gene DOID:0050581 brachydactyly ISO RGD:1604032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:25741868 12271119 NIPBL NIPBL cohesin loading factor gene DOID:0080006 bone development disease ISO RGD:1604032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19763162 12271119 NIPBL NIPBL cohesin loading factor gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1604032 D RGD:7240710 20190424 OMIM 12271119 NIPBL NIPBL cohesin loading factor gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1604032 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:11391654|PMID:15146185|PMID:15146186|PMID:15318302|PMID:15591270|PMID:16100726|PMID:16199547|PMID:16236812|PMID:17106445|PMID:17221863|PMID:17576681|PMID:17661813|PMID:18414213|PMID:19763162|PMID:20301283|PMID:20358602|PMID:20583156|PMID:20824775|PMID:22581668|PMID:22857006|PMID:23254390|PMID:23304577|PMID:23313159|PMID:23505322|PMID:24038889|PMID:24145515|PMID:24218399|PMID:24635725|PMID:24689074|PMID:24759409|PMID:24874887|PMID:24918291|PMID:25125236|PMID:25447906|PMID:25574841|PMID:25640679|PMID:25741868|PMID:25991456|PMID:25996639|PMID:26467025|PMID:26597256|PMID:26701315|PMID:26725122|PMID:26925417|PMID:26938784|PMID:28425213|PMID:28492532|PMID:28588001|PMID:29159939|PMID:29620724|PMID:29764576|PMID:29995837|PMID:30057591|PMID:30158690|PMID:30606125|PMID:31019026|PMID:31157197|PMID:31337854|PMID:32005694|PMID:34008892|PMID:35769956|PMID:9536098 12271119 NIPBL NIPBL cohesin loading factor gene DOID:0110564 autosomal dominant nonsyndromic deafness 3A ISO RGD:1604032 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3a PMID:25741868 12271119 NIPBL NIPBL cohesin loading factor gene DOID:1059 intellectual disability ISO RGD:1604032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12271119 NIPBL NIPBL cohesin loading factor gene DOID:11383 cryptorchidism ISO RGD:1604032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptorchidism PMID:25741868 12271119 NIPBL NIPBL cohesin loading factor gene DOID:11725 Cornelia de Lange syndrome ISO RGD:1604032 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brachmann de Lange syndrome | ClinVar Annotator: match by term: De Lange syndrome | ClinVar Annotator: match by term: Typus degenerativus amstelodamensis PMID:15318302|PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 12271119 NIPBL NIPBL cohesin loading factor gene DOID:11725 Cornelia de Lange syndrome severity ISO RGD:1604032 D RGD:9068941 20221027 RGD DNA:mutations:cds: PMID:27125329|REF_RGD_ID:155630600 12271119 NIPBL NIPBL cohesin loading factor gene DOID:12712 nephronophthisis ISO RGD:1604032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis 12271119 NIPBL NIPBL cohesin loading factor gene DOID:1682 congenital heart disease ISO RGD:1604032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19763162 12271119 NIPBL NIPBL cohesin loading factor gene DOID:630 genetic disease ISO RGD:1604032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15318302|PMID:16199547|PMID:17576681|PMID:17661813|PMID:18414213|PMID:19763162|PMID:20358602|PMID:22857006|PMID:23254390|PMID:23505322|PMID:24038889|PMID:24918291|PMID:25125236|PMID:25574841|PMID:25741868|PMID:25996639|PMID:26467025|PMID:26597256|PMID:26701315|PMID:26925417|PMID:28492532|PMID:28518168|PMID:28588001|PMID:29159939|PMID:29995837|PMID:30606125|PMID:31157197|PMID:32033219|PMID:32461654|PMID:9536098 12271119 NIPBL NIPBL cohesin loading factor gene DOID:6419 tetralogy of Fallot ISO RGD:1604032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:25741868 12271119 NIPBL NIPBL cohesin loading factor gene DOID:9002500 Hearing Disorders ISO RGD:1604032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19763162 12271119 NIPBL NIPBL cohesin loading factor gene DOID:9004203 Chromosome Breakage ISO RGD:1604032 D RGD:9068941 20230128 CTD CTD Direct Evidence: marker/mechanism PMID:35435490 12271119 NIPBL NIPBL cohesin loading factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12271119 NIPBL NIPBL cohesin loading factor gene DOID:9008086 Developmental Disabilities ISO RGD:1604032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:17576681|PMID:25741868|PMID:28492532|PMID:30606125|PMID:31157197|PMID:9536098 12271119 NIPBL NIPBL cohesin loading factor gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1604032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19763162 12271119 NIPBL NIPBL cohesin loading factor gene DOID:9009021 Plagiocephaly ISO RGD:1604032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Plagiocephaly PMID:30311386 12271177 HTR3A 5-hydroxytryptamine receptor 3A gene DOID:1059 intellectual disability ISO RGD:731037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12271177 HTR3A 5-hydroxytryptamine receptor 3A gene DOID:12849 autistic disorder ISO RGD:731037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19184136 12271177 HTR3A 5-hydroxytryptamine receptor 3A gene DOID:630 genetic disease ISO RGD:731037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12271177 HTR3A 5-hydroxytryptamine receptor 3A gene DOID:670 amphetamine abuse ISO RGD:731037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19689456 12271177 HTR3A 5-hydroxytryptamine receptor 3A gene DOID:9001204 Dyspepsia ISO RGD:731037 D RGD:9068941 20200609 RGD DNA:SNP:promoter:c.-42C>T(human) PMID:22014438|REF_RGD_ID:6480658 12271177 HTR3A 5-hydroxytryptamine receptor 3A gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:731037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12271177 HTR3A 5-hydroxytryptamine receptor 3A gene DOID:9778 irritable bowel syndrome severity ISO RGD:731037 D RGD:9068941 20200609 RGD DNA:SNP:promoter:c.-42C>T(human) PMID:21420406|REF_RGD_ID:6480659 12271196 IQCE IQ motif containing E gene DOID:0050581 brachydactyly ISO RGD:1350439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:25741868|PMID:31549751 12271196 IQCE IQ motif containing E gene DOID:0111957 immunodeficiency 11A ISO RGD:1350439 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency PMID:28492532 12271196 IQCE IQ motif containing E gene DOID:630 genetic disease ISO RGD:1350439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12271196 IQCE IQ motif containing E gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1350439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 PMID:25741868|PMID:31549751 12271196 IQCE IQ motif containing E gene DOID:9009200 Postaxial Polydactyly, Type A7 ISO RGD:1350439 D RGD:7240710 20190315 OMIM 12271196 IQCE IQ motif containing E gene DOID:9009200 Postaxial Polydactyly, Type A7 ISO RGD:1350439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type a7 PMID:25741868|PMID:28488682|PMID:31549751 12271234 ASB2 ankyrin repeat and SOCS box containing 2 gene DOID:0080054 achondrogenesis type IA ISO RGD:1315012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12271234 ASB2 ankyrin repeat and SOCS box containing 2 gene DOID:0081063 DICER1 syndrome ISO RGD:1315012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 12271234 ASB2 ankyrin repeat and SOCS box containing 2 gene DOID:630 genetic disease ISO RGD:1315012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12271253 PAK1 p21 (RAC1) activated kinase 1 gene DOID:1059 intellectual disability ISO RGD:1346880 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12271253 PAK1 p21 (RAC1) activated kinase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1346880 D RGD:9068941 20200609 RGD protein:altered localization PMID:18347024|REF_RGD_ID:2299169 12271253 PAK1 p21 (RAC1) activated kinase 1 gene DOID:1612 breast cancer ISO RGD:1346880 D RGD:9068941 20200609 RGD PMID:16705121|REF_RGD_ID:2299167 12271253 PAK1 p21 (RAC1) activated kinase 1 gene DOID:1612 breast cancer ISO RGD:1346880 D RGD:9068941 20200609 RGD DNA:amplification PMID:17486065|REF_RGD_ID:2299165 12271253 PAK1 p21 (RAC1) activated kinase 1 gene DOID:1612 breast cancer ISO RGD:1346880 D RGD:9068941 20230225 RGD mRNA:increased expression:breast PMID:28055013|REF_RGD_ID:156430322 12271253 PAK1 p21 (RAC1) activated kinase 1 gene DOID:2154 nephroblastoma ISO RGD:1346880 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:12165855|REF_RGD_ID:2299168 12271253 PAK1 p21 (RAC1) activated kinase 1 gene DOID:2316 brain ischemia ISO RGD:3250 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17997827|REF_RGD_ID:2299171 12271253 PAK1 p21 (RAC1) activated kinase 1 gene DOID:2671 transitional cell carcinoma severity ISO RGD:1346880 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:18167251|REF_RGD_ID:2299157 12271253 PAK1 p21 (RAC1) activated kinase 1 gene DOID:4001 ovarian carcinoma severity ISO RGD:1346880 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17533742|REF_RGD_ID:2299164 12271253 PAK1 p21 (RAC1) activated kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:1346880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17621631 12271253 PAK1 p21 (RAC1) activated kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:1346880 D RGD:9068941 20200609 RGD PMID:17621631|REF_RGD_ID:2299159 12271253 PAK1 p21 (RAC1) activated kinase 1 gene DOID:5419 schizophrenia ISO RGD:1346880 D RGD:9068941 20200609 RGD protein:decreased threonine phosphorylation:anterior cingulate cortex, dorsolateral prefrontal cortex PMID:22458949|REF_RGD_ID:11533950 12271253 PAK1 p21 (RAC1) activated kinase 1 gene DOID:576 proteinuria ISO RGD:1346880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20071462 12271253 PAK1 p21 (RAC1) activated kinase 1 gene DOID:630 genetic disease ISO RGD:1346880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10975528|PMID:30290153 12271253 PAK1 p21 (RAC1) activated kinase 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:1346880 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35066776 12271253 PAK1 p21 (RAC1) activated kinase 1 gene DOID:9002514 Neointima ISO RGD:3250 D RGD:9068941 20200609 RGD PMID:19359598|PMID:22922962|REF_RGD_ID:10041068|REF_RGD_ID:11533945 12271253 PAK1 p21 (RAC1) activated kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1346880 D RGD:9068941 20200609 RGD DNA:amplification PMID:16753589|REF_RGD_ID:2299166 12271253 PAK1 p21 (RAC1) activated kinase 1 gene DOID:9003139 Cardiac Fibrosis ISO RGD:736234 D RGD:9068941 20200609 RGD PMID:22082674|REF_RGD_ID:11533929 12271253 PAK1 p21 (RAC1) activated kinase 1 gene DOID:9003936 Cardiomegaly ISO RGD:736234 D RGD:9068941 20200609 RGD PMID:22082674|REF_RGD_ID:11533929 12271253 PAK1 p21 (RAC1) activated kinase 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1346880 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35066776 12271253 PAK1 p21 (RAC1) activated kinase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1346880 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35066776 12271253 PAK1 p21 (RAC1) activated kinase 1 gene DOID:9004610 Acute Lung Injury ISO RGD:3250 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:23546543|REF_RGD_ID:11533951 12271253 PAK1 p21 (RAC1) activated kinase 1 gene DOID:9004763 Trauma and Stressor Related Disorders disease_progression ISO RGD:3250 D RGD:9068941 20220428 RGD PMID:22078298|REF_RGD_ID:152023731 12271253 PAK1 p21 (RAC1) activated kinase 1 gene DOID:9007096 Stroke ISO RGD:1346880 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:17997827|REF_RGD_ID:2299171 12271253 PAK1 p21 (RAC1) activated kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1346880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20179234 12271253 PAK1 p21 (RAC1) activated kinase 1 gene DOID:9009239 Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay ISO RGD:1346880 D RGD:7240710 20190315 OMIM 12271253 PAK1 p21 (RAC1) activated kinase 1 gene DOID:9009239 Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay ISO RGD:1346880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with macrocephaly, seizures, and speech delay | ClinVar Annotator: match by term: PAK1-related neurodevelopmental disorders PMID:10975528|PMID:25741868|PMID:28492532|PMID:30290153|PMID:31504246 12271272 SLC9A5 solute carrier family 9 member A5 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:732088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12271272 SLC9A5 solute carrier family 9 member A5 gene DOID:630 genetic disease ISO RGD:732088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12271272 SLC9A5 solute carrier family 9 member A5 gene DOID:684 hepatocellular carcinoma ISO RGD:732088 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 12271272 SLC9A5 solute carrier family 9 member A5 gene DOID:783 end stage renal disease resistance ISO RGD:732088 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:10642288|REF_RGD_ID:1643221 12271301 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:0050902 medulloblastoma ISO RGD:1322330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 12271301 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:0070004 myeloid neoplasm ISO RGD:1322330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29047144 12271301 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:0090118 congenital amegakaryocytic thrombocytopenia ISO RGD:1322330 D RGD:7240710 20180130 OMIM 12271301 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:0090118 congenital amegakaryocytic thrombocytopenia ISO RGD:1322330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopenia PMID:10077649|PMID:10971406|PMID:11071383|PMID:11133753|PMID:11392330|PMID:11972523|PMID:15269348|PMID:15531462|PMID:16199547|PMID:16219544|PMID:16470591|PMID:16834459|PMID:16868251|PMID:17034029|PMID:17054430|PMID:17576681|PMID:17666371|PMID:18090929|PMID:18240171|PMID:18422784|PMID:18451306|PMID:18769448|PMID:19036112|PMID:19302922|PMID:19388932|PMID:20113333|PMID:20188141|PMID:21162090|PMID:21225925|PMID:21228398|PMID:21326037|PMID:21489838|PMID:21659346|PMID:22180433|PMID:22389068|PMID:23103231|PMID:23625800|PMID:23908116|PMID:24033266|PMID:24119002|PMID:24438083|PMID:24728327|PMID:25023898|PMID:25538044|PMID:25741868|PMID:26316487|PMID:26423830|PMID:26854587|PMID:27069254|PMID:27100302|PMID:27418648|PMID:27449473|PMID:28492532|PMID:28697167|PMID:28823277|PMID:28859041|PMID:29384262|PMID:29625052|PMID:30840646|PMID:30886832|PMID:31064749|PMID:31249973|PMID:31294534|PMID:32581362|PMID:32581363|PMID:32703794|PMID:34573280|PMID:35314707|PMID:35477182|PMID:8073287|PMID:9536098|PMID:971406 12271301 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12271301 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:1588 thrombocytopenia ISO RGD:1322330 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10971406|PMID:11133753|PMID:11972523|PMID:16199547|PMID:16470591|PMID:18240171|PMID:18422784|PMID:19302922|PMID:21225925|PMID:21489838|PMID:21659346|PMID:24033266|PMID:24119002|PMID:24438083|PMID:24728327|PMID:25538044|PMID:25741868|PMID:26854587|PMID:28492532|PMID:28859041|PMID:31064749|PMID:32581362|PMID:8073287|PMID:971406 12271301 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:1588 thrombocytopenia ameliorates ISO RGD:1322330 D RGD:9068941 20210521 RGD associated with End Stage Liver Disease PMID:32841939|REF_RGD_ID:126925754 12271301 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:1883 hepatitis C ISO RGD:1322330 D RGD:9068941 20210521 RGD mRNA:decreased expression:liver (human) PMID:23157389|REF_RGD_ID:126925755 12271301 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:2043 hepatitis B ISO RGD:1322330 D RGD:9068941 20210521 RGD mRNA:decreased expression:liver (human) PMID:23157389|REF_RGD_ID:126925755 12271301 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:2213 hemorrhagic disease ISO RGD:1322330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:11972523|PMID:16470591|PMID:21659346|PMID:24728327|PMID:25741868|PMID:28492532|PMID:28859041|PMID:32703794 12271301 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:2224 essential thrombocythemia ISO RGD:1322330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Essential thrombocythemia | ClinVar Annotator: match by term: Thrombocythemia 1 PMID:11133753|PMID:14764528|PMID:15269348|PMID:15531462|PMID:16199547|PMID:16470591|PMID:17054430|PMID:17666371|PMID:18451306|PMID:18528423|PMID:19483125|PMID:19608689|PMID:20151976|PMID:21489838|PMID:23970983|PMID:24033266|PMID:24438083|PMID:24728327|PMID:25741868|PMID:27069254|PMID:28492532|PMID:28697167|PMID:31064749|PMID:8073287 12271301 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:2226 myeloproliferative neoplasm ISO RGD:1322330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm PMID:14764528|PMID:18451306|PMID:18528423|PMID:19483125|PMID:19608689|PMID:20151976|PMID:21228032|PMID:23970983|PMID:25741868 12271301 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:2228 thrombocytosis ISO RGD:1322330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15813844|PMID:16484586 12271301 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:2228 thrombocytosis ISO RGD:1322330 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.317C > T,p.P106L(human) PMID:19036112|REF_RGD_ID:11073684 12271301 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:4971 myelofibrosis ISO RGD:1322330 D RGD:7240710 20180130 OMIM 12271301 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:4971 myelofibrosis ISO RGD:1322330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myelofibrosis with myeloid metaplasia | ClinVar Annotator: match by term: Primary myelofibrosis PMID:10971406|PMID:11071383|PMID:11133753|PMID:14764528|PMID:16199547|PMID:16470591|PMID:16834459|PMID:16868251|PMID:17666371|PMID:18451306|PMID:18528423|PMID:18769448|PMID:19483125|PMID:19608689|PMID:20113333|PMID:20151976|PMID:21326037|PMID:21489838|PMID:23625800|PMID:23970983|PMID:24033266|PMID:24728327|PMID:25023898|PMID:25741868|PMID:28492532|PMID:28823277|PMID:31064749|PMID:31294534|PMID:32703794|PMID:35477182|PMID:8073287 12271301 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:630 genetic disease ISO RGD:1322330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12271301 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:684 hepatocellular carcinoma ISO RGD:1322331 D RGD:9068941 20210521 RGD human cells in mouse model PMID:23157389|REF_RGD_ID:126925755 12271301 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:8692 myeloid leukemia ISO RGD:1322330 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:10621836|REF_RGD_ID:10449009 12271301 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:9000940 Thrombocytosis, Benign Familial Microcytic ISO RGD:1322330 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thrombocytosis, benign familial microcytic PMID:11133753|PMID:16199547|PMID:16470591|PMID:21489838|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532|PMID:31064749|PMID:8073287 12271301 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:9006532 Hematologic Neoplasms ISO RGD:1322330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hematologic neoplasm PMID:16834459|PMID:16868251|PMID:18769448|PMID:20113333|PMID:21326037|PMID:25023898|PMID:25741868|PMID:28492532|PMID:28823277|PMID:31294534 12271301 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:9006618 Liver Metastasis ISO RGD:1322331 D RGD:9068941 20210820 RGD associated with pancreatic ductal adenocarcinoma; human cells in mouse model PMID:30770989|REF_RGD_ID:126925751 12271301 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:9006618 Liver Metastasis exacerbates ISO RGD:1322330 D RGD:9068941 20210521 RGD associated with pancreatic cancer; protein:increased expression:liver, pancreas (human) PMID:30770989|REF_RGD_ID:126925751 12271301 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:9006618 Liver Metastasis severity ISO RGD:1322330 D RGD:9068941 20210820 RGD associated with colorectal carcinoma;protein:increased expression:colorectum (human) PMID:23747337|REF_RGD_ID:126925752 12271301 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:9007879 Thrombocythemia 2 ISO RGD:1322330 D RGD:7240710 20180130 OMIM 12271301 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:9007879 Thrombocythemia 2 ISO RGD:1322330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocythemia 2 | ClinVar Annotator: match by term: Thrombocythemia 2, somatic PMID:11133753|PMID:14764528|PMID:15269348|PMID:16199547|PMID:16470591|PMID:16834459|PMID:16868251|PMID:18451306|PMID:18528423|PMID:18769448|PMID:19036112|PMID:19483125|PMID:19608689|PMID:20113333|PMID:20151976|PMID:21326037|PMID:21489838|PMID:23970983|PMID:24033266|PMID:24728327|PMID:25023898|PMID:25538044|PMID:25741868|PMID:27069254|PMID:28492532|PMID:28823277|PMID:31064749|PMID:31294534|PMID:34573280|PMID:8073287 12271301 MPL MPL proto-oncogene, thrombopoietin receptor gene DOID:9008163 Chronic Hepatitis B ISO RGD:1322330 D RGD:9068941 20210820 RGD protein:decreased expression:blood serum (human) PMID:28871230|REF_RGD_ID:150340590 12271311 MVP major vault protein gene DOID:0060019 coronin-1A deficiency ISO RGD:1602444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12271311 MVP major vault protein gene DOID:0060041 autism spectrum disorder ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12271311 MVP major vault protein gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1602444 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12271311 MVP major vault protein gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1602444 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12271311 MVP major vault protein gene DOID:0080462 developmental and epileptic encephalopathy 7 ISO RGD:1602444 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: KCNQ2-Related Neonatal Epileptic Encephalopathy PMID:11179027|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22623405|PMID:22744660|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23299620|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26467025|PMID:26561923|PMID:26598493|PMID:28074849|PMID:28492532|PMID:29334453|PMID:34782754 12271311 MVP major vault protein gene DOID:0081115 benign familial infantile seizures 2 ISO RGD:1602444 D RGD:7240710 20180130 OMIM 12271311 MVP major vault protein gene DOID:0081115 benign familial infantile seizures 2 ISO RGD:1602444 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2 | ClinVar Annotator: match by term: Seizures, benign familial infantile, 2 PMID:11179027|PMID:11346027|PMID:12953268|PMID:18414213|PMID:2131349|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22464846|PMID:22623405|PMID:22744660|PMID:22752065|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:22895590|PMID:22902309|PMID:23077016|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23190448|PMID:23299620|PMID:23352743|PMID:23363396|PMID:23496026|PMID:23529024|PMID:23566103|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:24594579|PMID:24609974|PMID:24755245|PMID:24828792|PMID:24886244|PMID:25167861|PMID:25449067|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26446061|PMID:26467025|PMID:26561923|PMID:26598493|PMID:26598494|PMID:27172900|PMID:27624551|PMID:28074849|PMID:28492532|PMID:28906077|PMID:29167286|PMID:29334453|PMID:30198221|PMID:30386286|PMID:30392205|PMID:30980674|PMID:31124310|PMID:31130284|PMID:31722684|PMID:32346475|PMID:32392383|PMID:34298454|PMID:34298581|PMID:34782754|PMID:9579893 12271311 MVP major vault protein gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1602444 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial paroxysmal choreoathetosis PMID:11179027|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22623405|PMID:22744660|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23299620|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26467025|PMID:26561923|PMID:26598493|PMID:28074849|PMID:28492532|PMID:29334453|PMID:34782754 12271311 MVP major vault protein gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1602444 D RGD:7240710 20180130 OMIM 12271311 MVP major vault protein gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1602444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia 1 | ClinVar Annotator: match by term: Familial Paroxysmal Kinesigenic Dyskinesia | ClinVar Annotator: match by term: Familial paroxysmal dystonia | ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:11179027|PMID:11346027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19914906|PMID:20301633|PMID:2131349|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22464846|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:22752065|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:22895590|PMID:22902309|PMID:23063574|PMID:23077016|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23190448|PMID:23299620|PMID:23352743|PMID:23363396|PMID:23436308|PMID:23456995|PMID:23496026|PMID:23529024|PMID:23551744|PMID:23566103|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24101679|PMID:24370076|PMID:24372385|PMID:24465263|PMID:24594579|PMID:24609974|PMID:24755245|PMID:24811917|PMID:24828792|PMID:24886244|PMID:25167861|PMID:25421402|PMID:25449067|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:25915028|PMID:26446061|PMID:26467025|PMID:26561923|PMID:26598493|PMID:26598494|PMID:26629640|PMID:26742926|PMID:26867511|PMID:26935445|PMID:26936445|PMID:26944167|PMID:27123484|PMID:27172900|PMID:27173777|PMID:27624551|PMID:28074849|PMID:28492532|PMID:28525812|PMID:28906077|PMID:29132464|PMID:29167286|PMID:29215089|PMID:29334453|PMID:29655203|PMID:29801903|PMID:30198221|PMID:30386286|PMID:30392205|PMID:30980674|PMID:31124310|PMID:31130284|PMID:31154286|PMID:31302675|PMID:31589614|PMID:31722684|PMID:31901402|PMID:32346475|PMID:32392383|PMID:32651081|PMID:32906206|PMID:33126486|PMID:34041212|PMID:34298454|PMID:34298581|PMID:34782754|PMID:9536098 12271311 MVP major vault protein gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1602444 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12271311 MVP major vault protein gene DOID:1059 intellectual disability ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, profound PMID:25741868 12271311 MVP major vault protein gene DOID:12849 autistic disorder ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12271311 MVP major vault protein gene DOID:1826 epilepsy ISO RGD:1602444 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure PMID:11179027|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22623405|PMID:22744660|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23299620|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26467025|PMID:26598493|PMID:28074849|PMID:28492532|PMID:29334453|PMID:34782754 12271311 MVP major vault protein gene DOID:1826 epilepsy ISO RGD:1602444 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:11179027|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22623405|PMID:22744660|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23299620|PMID:23529024|PMID:23566103|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:24594579|PMID:24828792|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26467025|PMID:26561923|PMID:26598493|PMID:28074849|PMID:28492532|PMID:29334453|PMID:31124310|PMID:34782754 12271311 MVP major vault protein gene DOID:1882 atrial heart septal defect ISO RGD:1602444 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12271311 MVP major vault protein gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1602444 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cholestanol storage disease PMID:25741868|PMID:28492532|PMID:28590052 12271311 MVP major vault protein gene DOID:5419 schizophrenia ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12271311 MVP major vault protein gene DOID:630 genetic disease ISO RGD:1602444 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11179027|PMID:11346027|PMID:18414213|PMID:20301633|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22623405|PMID:22744660|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:23063574|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23190448|PMID:23299620|PMID:23363396|PMID:23436308|PMID:23496026|PMID:23529024|PMID:23566103|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:24594579|PMID:24828792|PMID:25167861|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26467025|PMID:26561923|PMID:26598493|PMID:26598494|PMID:27123484|PMID:28074849|PMID:28492532|PMID:28525812|PMID:29334453|PMID:31124310|PMID:31193310|PMID:34782754 12271311 MVP major vault protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12271311 MVP major vault protein gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1602444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12271311 MVP major vault protein gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12271311 MVP major vault protein gene DOID:9007283 Familial Infantile Convulsions and Paroxysmal Choreoathetosis ISO RGD:1602444 D RGD:7240710 20180130 OMIM 12271311 MVP major vault protein gene DOID:9007283 Familial Infantile Convulsions and Paroxysmal Choreoathetosis ISO RGD:1602444 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS PMID:11179027|PMID:11346027|PMID:18414213|PMID:20301633|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22464846|PMID:22623405|PMID:22744660|PMID:22752065|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:22902309|PMID:23077016|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23190448|PMID:23299620|PMID:23352743|PMID:23363396|PMID:23529024|PMID:23566103|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:24465263|PMID:24594579|PMID:24755245|PMID:24828792|PMID:25167861|PMID:25449067|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26467025|PMID:26561923|PMID:26598493|PMID:26598494|PMID:26935445|PMID:26936445|PMID:27172900|PMID:27173777|PMID:28074849|PMID:28492532|PMID:28906077|PMID:29334453|PMID:30980674|PMID:31124310|PMID:31722684|PMID:33126486|PMID:34782754 12271311 MVP major vault protein gene DOID:9007956 Febrile Seizures ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex febrile seizures PMID:28492532 12271311 MVP major vault protein gene DOID:9008086 Developmental Disabilities ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12271386 HK2 hexokinase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:733090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12271386 HK2 hexokinase 2 gene DOID:630 genetic disease ISO RGD:733090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12271386 HK2 hexokinase 2 gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:2797 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cardiac ventricle PMID:24525799|REF_RGD_ID:11353961 12271386 HK2 hexokinase 2 gene DOID:9006205 Animal Disease Models ISO RGD:733090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12271386 HK2 hexokinase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:733090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12271386 HK2 hexokinase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733090 D RGD:9068941 20200609 RGD PMID:11319725|REF_RGD_ID:2313227 12271386 HK2 hexokinase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735576 D RGD:9068941 20200609 RGD mRNA:decreased expression:epididymal fat pad, quadriceps PMID:7813813|REF_RGD_ID:2313229 12271386 HK2 hexokinase 2 gene DOID:9970 obesity ISO RGD:2797 D RGD:9068941 20200609 RGD mRNA:increased expression:gastrocnemius PMID:16555472|REF_RGD_ID:1624365 12271386 HK2 hexokinase 2 gene DOID:9970 obesity ISO RGD:733090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12271386 HK2 hexokinase 2 gene DOID:9970 obesity ISO RGD:733090 D RGD:9068941 20200609 RGD PMID:11319725|REF_RGD_ID:2313227 12271408 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 gene DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency ISO RGD:1344400 D RGD:7240710 20180130 OMIM 12271408 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 gene DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency ISO RGD:1344400 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency PMID:10599740|PMID:11158067|PMID:12429500|PMID:16199547|PMID:17466011|PMID:17509588|PMID:17551466|PMID:17576681|PMID:19498320|PMID:21214500|PMID:22212252|PMID:23295294|PMID:23796702|PMID:24025597|PMID:24033266|PMID:25525159|PMID:25740850|PMID:25741868|PMID:27163392|PMID:27899157|PMID:28492532|PMID:28739554|PMID:2918056|PMID:3066852|PMID:30668521|PMID:32297288|PMID:36606580|PMID:598011|PMID:8075637|PMID:8550739|PMID:8626842|PMID:9467575|PMID:9536098|PMID:9709959|PMID:9758445 12271408 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 gene DOID:1059 intellectual disability ISO RGD:1344400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12271408 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 gene DOID:10652 Alzheimer's disease ISO RGD:1344400 D RGD:9068941 20200609 RGD mRNA:altered expression:cerebellum, hippocampus (human) PMID:18180323|REF_RGD_ID:4889108 12271408 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 gene DOID:1923 disorder of sexual development ISO RGD:1344400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 12271408 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 gene DOID:3765 pseudohermaphroditism ISO RGD:1344400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pseudohermaphroditism PMID:10599740|PMID:12429500|PMID:16199547|PMID:17509588|PMID:17551466|PMID:17576681|PMID:19498320|PMID:21214500|PMID:22212252|PMID:23295294|PMID:23796702|PMID:24025597|PMID:24033266|PMID:25525159|PMID:25740850|PMID:25741868|PMID:27163392|PMID:27899157|PMID:28492532|PMID:2918056|PMID:30668521|PMID:32297288|PMID:8075637|PMID:8550739|PMID:8626842|PMID:9536098|PMID:9758445 12271408 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 gene DOID:630 genetic disease ISO RGD:1344400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10599740|PMID:16199547|PMID:17509588|PMID:17576681|PMID:23295294|PMID:23796702|PMID:24033266|PMID:25525159|PMID:25740850|PMID:25741868|PMID:27163392|PMID:28492532|PMID:30668521|PMID:32297288|PMID:8075637|PMID:8550739|PMID:9536098 12271408 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12210481 12271408 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:621805 D RGD:9068941 20200609 RGD mRNA:decreased expression:testis, Leydig cell (rat) PMID:18481435|REF_RGD_ID:4889107 12271480 ID3 inhibitor of DNA binding 3 gene DOID:12894 Sjogren's syndrome ISO RGD:1553777 D RGD:9068941 20220825 MouseDO OMIM:270150 12271480 ID3 inhibitor of DNA binding 3 gene DOID:299 adenocarcinoma ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 12271480 ID3 inhibitor of DNA binding 3 gene DOID:305 carcinoma ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12271480 ID3 inhibitor of DNA binding 3 gene DOID:50 thyroid gland disease ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 12271480 ID3 inhibitor of DNA binding 3 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:734069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12271480 ID3 inhibitor of DNA binding 3 gene DOID:630 genetic disease ISO RGD:734069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12271480 ID3 inhibitor of DNA binding 3 gene DOID:8584 Burkitt lymphoma ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143595|PMID:23143597 12271480 ID3 inhibitor of DNA binding 3 gene DOID:863 nervous system disease ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 12271480 ID3 inhibitor of DNA binding 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2860 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord (rat) PMID:11746449|REF_RGD_ID:9686138 12271480 ID3 inhibitor of DNA binding 3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12271480 ID3 inhibitor of DNA binding 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12271480 ID3 inhibitor of DNA binding 3 gene DOID:9002928 Colonic Neoplasms ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12271480 ID3 inhibitor of DNA binding 3 gene DOID:9004009 Reperfusion Injury ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 12271480 ID3 inhibitor of DNA binding 3 gene DOID:9005172 Lung Neoplasms ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 12271480 ID3 inhibitor of DNA binding 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12271480 ID3 inhibitor of DNA binding 3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:734069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12271480 ID3 inhibitor of DNA binding 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12271487 WDPCP WD repeat containing planar cell polarity effector gene DOID:0050777 Joubert syndrome ISO RGD:1603046 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:27158779|PMID:28492532 12271487 WDPCP WD repeat containing planar cell polarity effector gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1603046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:25741868|PMID:28492532 12271487 WDPCP WD repeat containing planar cell polarity effector gene DOID:0110137 Bardet-Biedl syndrome 15 ISO RGD:1603046 D RGD:7240710 20180130 OMIM 12271487 WDPCP WD repeat containing planar cell polarity effector gene DOID:0110137 Bardet-Biedl syndrome 15 ISO RGD:1603046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 15 PMID:16199547|PMID:17576681|PMID:20671153|PMID:25326635|PMID:25427950|PMID:25741868|PMID:27158779|PMID:28289185|PMID:28492532|PMID:32860008|PMID:9536098 12271487 WDPCP WD repeat containing planar cell polarity effector gene DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly ISO RGD:1603046 D RGD:7240710 20180130 OMIM 12271487 WDPCP WD repeat containing planar cell polarity effector gene DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly ISO RGD:1603046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart defect - tongue hamartoma - polysyndactyly syndrome PMID:17576681|PMID:20671153|PMID:25326635|PMID:25427950|PMID:25741868|PMID:27158779|PMID:28289185|PMID:28492532|PMID:9536098 12271487 WDPCP WD repeat containing planar cell polarity effector gene DOID:0112222 developmental and epileptic encephalopathy 88 ISO RGD:1603046 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 88 PMID:31538237 12271487 WDPCP WD repeat containing planar cell polarity effector gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603046 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16199547|PMID:17576681|PMID:20671153|PMID:25326635|PMID:25427950|PMID:25640679|PMID:25741868|PMID:27158779|PMID:28289185|PMID:28492532|PMID:29588463|PMID:33046855|PMID:9536098 12271487 WDPCP WD repeat containing planar cell polarity effector gene DOID:4501 orofaciodigital syndrome ISO RGD:1603046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome PMID:17576681|PMID:20671153|PMID:25326635|PMID:25427950|PMID:25741868|PMID:27158779|PMID:28289185|PMID:28492532|PMID:9536098 12271487 WDPCP WD repeat containing planar cell polarity effector gene DOID:630 genetic disease ISO RGD:1603046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20671153|PMID:25427950|PMID:25741868|PMID:27158779|PMID:28492532|PMID:33046855 12271530 VPS13A vacuolar protein sorting 13 homolog A gene DOID:0050765 neuroacanthocytosis ISO RGD:1312307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12271530 VPS13A vacuolar protein sorting 13 homolog A gene DOID:0050766 choreaacanthocytosis ISO RGD:1312307 D RGD:7240710 20180725 OMIM 12271530 VPS13A vacuolar protein sorting 13 homolog A gene DOID:0050766 choreaacanthocytosis ISO RGD:1312307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chorea-acanthocytosis PMID:11381253|PMID:11381254|PMID:12404112|PMID:14663054|PMID:15824261|PMID:15918062|PMID:16199547|PMID:17516458|PMID:17576681|PMID:17998451|PMID:21145924|PMID:21598378|PMID:22777538|PMID:24033266|PMID:24974674|PMID:25733999|PMID:25741868|PMID:26467025|PMID:26870756|PMID:27400454|PMID:28492532|PMID:31192303|PMID:32131761|PMID:9536098 12271530 VPS13A vacuolar protein sorting 13 homolog A gene DOID:0080075 Neu-Laxova syndrome 2 ISO RGD:1312307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neu-Laxova syndrome 2 PMID:17436247|PMID:25152457|PMID:28492532 12271530 VPS13A vacuolar protein sorting 13 homolog A gene DOID:12859 choreatic disease ISO RGD:1312307 D RGD:9068941 20200609 RGD choreoacanthocytosis, OMIM:200150 PMID:11381253|REF_RGD_ID:1599747 12271530 VPS13A vacuolar protein sorting 13 homolog A gene DOID:630 genetic disease ISO RGD:1312307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12271530 VPS13A vacuolar protein sorting 13 homolog A gene DOID:8725 vascular dementia ISO RGD:1312307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 12271530 VPS13A vacuolar protein sorting 13 homolog A gene DOID:9006534 Nervous System Malformations ISO RGD:1312307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12271617 PRMT1 protein arginine methyltransferase 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:731338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12271617 PRMT1 protein arginine methyltransferase 1 gene DOID:2841 asthma ISO RGD:62020 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20423833|REF_RGD_ID:9491823 12271617 PRMT1 protein arginine methyltransferase 1 gene DOID:630 genetic disease ISO RGD:731338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12271617 PRMT1 protein arginine methyltransferase 1 gene DOID:674 cleft palate ISO RGD:62312 D RGD:9068941 20221117 MouseDO 12271617 PRMT1 protein arginine methyltransferase 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:62020 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23159951|REF_RGD_ID:9491822 12271639 TRNT1 tRNA nucleotidyl transferase 1 gene DOID:0080209 sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay ISO RGD:1318871 D RGD:7240710 20180130 OMIM 12271639 TRNT1 tRNA nucleotidyl transferase 1 gene DOID:0080209 sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay ISO RGD:1318871 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay PMID:16199547|PMID:17576681|PMID:24033266|PMID:25193871|PMID:25652405|PMID:25741868|PMID:2649490|PMID:26494905|PMID:27370603|PMID:27389523|PMID:27531075|PMID:28492532|PMID:29055896|PMID:29358286|PMID:29454993|PMID:29610179|PMID:30758723|PMID:31019026|PMID:31338833|PMID:31664448|PMID:32371413|PMID:32592741|PMID:33332575|PMID:33646446|PMID:33936027|PMID:34510712|PMID:9536098 12271639 TRNT1 tRNA nucleotidyl transferase 1 gene DOID:0081178 autosomal recessive intellectual developmental disorder 2 ISO RGD:1318871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 2 PMID:10932263|PMID:15557513|PMID:18414909|PMID:23983124|PMID:24088041|PMID:24993823|PMID:26633545|PMID:28143899|PMID:28492532 12271639 TRNT1 tRNA nucleotidyl transferase 1 gene DOID:630 genetic disease ISO RGD:1318871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25652405|PMID:25741868|PMID:27389523|PMID:27531075|PMID:28492532|PMID:29358286|PMID:30758723 12271639 TRNT1 tRNA nucleotidyl transferase 1 gene DOID:9002040 RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS ISO RGD:1318871 D RGD:7240710 20190315 OMIM 12271639 TRNT1 tRNA nucleotidyl transferase 1 gene DOID:9002040 RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS ISO RGD:1318871 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and erythrocytic microcytosis PMID:24033266|PMID:25193871|PMID:25652405|PMID:25741868|PMID:26494905|PMID:27389523|PMID:27531075|PMID:28492532|PMID:29358286|PMID:29610179|PMID:30758723|PMID:31338833|PMID:31664448|PMID:32371413|PMID:32592741|PMID:33332575|PMID:33646446|PMID:34510712 12271639 TRNT1 tRNA nucleotidyl transferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12271639 TRNT1 tRNA nucleotidyl transferase 1 gene DOID:9538 multiple myeloma ISO RGD:1318871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12271660 COQ9 coenzyme Q9 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12271660 COQ9 coenzyme Q9 gene DOID:0050730 coenzyme Q10 deficiency disease ISO RGD:1603980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary 12271660 COQ9 coenzyme Q9 gene DOID:0070242 primary coenzyme Q10 deficiency 5 ISO RGD:1603980 D RGD:7240710 20180130 OMIM 12271660 COQ9 coenzyme Q9 gene DOID:0070242 primary coenzyme Q10 deficiency 5 ISO RGD:1603980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome PMID:16199547|PMID:19375058|PMID:20495179|PMID:20689595|PMID:22490322|PMID:23255162|PMID:25741868|PMID:25802402|PMID:26081641|PMID:27629047|PMID:28492532|PMID:28736527|PMID:29255295|PMID:30482867 12271660 COQ9 coenzyme Q9 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12271660 COQ9 coenzyme Q9 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12271660 COQ9 coenzyme Q9 gene DOID:630 genetic disease ISO RGD:1603980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:27629047|PMID:28492532|PMID:9536098 12271660 COQ9 coenzyme Q9 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603980 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12271673 PHACTR1 phosphatase and actin regulator 1 gene DOID:0080600 COVID-19 ISO RGD:1353173 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12271673 PHACTR1 phosphatase and actin regulator 1 gene DOID:0112206 developmental and epileptic encephalopathy 70 ISO RGD:1353173 D RGD:7240710 20190315 OMIM 12271673 PHACTR1 phosphatase and actin regulator 1 gene DOID:0112206 developmental and epileptic encephalopathy 70 ISO RGD:1353173 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 70 PMID:23033978|PMID:25741868|PMID:30256902|PMID:33463715 12271673 PHACTR1 phosphatase and actin regulator 1 gene DOID:12783 migraine without aura ISO RGD:1353173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683712 12271673 PHACTR1 phosphatase and actin regulator 1 gene DOID:3393 coronary artery disease ISO RGD:1353173 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:21378990|PMID:22751097|PMID:26098115|PMID:34961328 12271673 PHACTR1 phosphatase and actin regulator 1 gene DOID:5419 schizophrenia ISO RGD:1353173 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12271673 PHACTR1 phosphatase and actin regulator 1 gene DOID:5844 myocardial infarction ISO RGD:1353173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198609|PMID:26098115 12271673 PHACTR1 phosphatase and actin regulator 1 gene DOID:630 genetic disease ISO RGD:1353173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12271673 PHACTR1 phosphatase and actin regulator 1 gene DOID:9001829 Cerebrovascular Trauma ISO RGD:1353173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25420145 12271673 PHACTR1 phosphatase and actin regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12271673 PHACTR1 phosphatase and actin regulator 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1353173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12271693 TDP2 tyrosyl-DNA phosphodiesterase 2 gene DOID:0050753 cerebellar ataxia ISO RGD:1348894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 12271693 TDP2 tyrosyl-DNA phosphodiesterase 2 gene DOID:0111613 autosomal recessive spinocerebellar ataxia 23 ISO RGD:1348894 D RGD:7240710 20190315 OMIM 12271693 TDP2 tyrosyl-DNA phosphodiesterase 2 gene DOID:0111613 autosomal recessive spinocerebellar ataxia 23 ISO RGD:1348894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency PMID:24658003|PMID:25741868|PMID:30109272 12271693 TDP2 tyrosyl-DNA phosphodiesterase 2 gene DOID:630 genetic disease ISO RGD:1348894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12271693 TDP2 tyrosyl-DNA phosphodiesterase 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1348894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12271705 LDB3 LIM domain binding 3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1351488 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:20474083|PMID:23861362|PMID:24033266|PMID:25179549|PMID:25351510|PMID:25741868|PMID:28492532|PMID:30847666 12271705 LDB3 LIM domain binding 3 gene DOID:0050700 cardiomyopathy ISO RGD:1351488 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11696561|PMID:14662268|PMID:15668942|PMID:16476425|PMID:17097056|PMID:17235623|PMID:17337483|PMID:17438622|PMID:17576681|PMID:18055494|PMID:18765652|PMID:19028670|PMID:19377068|PMID:19412328|PMID:20301672|PMID:20474083|PMID:20590677|PMID:20852297|PMID:21676617|PMID:22337857|PMID:23263837|PMID:23299917|PMID:23396983|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:24668811|PMID:25041374|PMID:25163546|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25326637|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:26350513|PMID:26467025|PMID:27005929|PMID:27618136|PMID:27884173|PMID:27896284|PMID:28349680|PMID:28492532|PMID:28798025|PMID:29032884|PMID:30847666|PMID:31078652|PMID:31568572|PMID:31737537|PMID:32721234|PMID:32880476|PMID:33297573|PMID:33500567|PMID:33552729|PMID:33742095|PMID:34935411|PMID:4855680|PMID:9536098 12271705 LDB3 LIM domain binding 3 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1351488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:11536076|PMID:12417513|PMID:16287957|PMID:16685657|PMID:18510548|PMID:23399955|PMID:28492532 12271705 LDB3 LIM domain binding 3 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1557802 D RGD:9068941 20220825 MouseDO OMIM:601419 12271705 LDB3 LIM domain binding 3 gene DOID:0080095 myofibrillar myopathy 4 ISO RGD:1351488 D RGD:7240710 20180130 OMIM 12271705 LDB3 LIM domain binding 3 gene DOID:0080095 myofibrillar myopathy 4 ISO RGD:1351488 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: MARKESBERY-GRIGGS DISTAL MYOPATHY | ClinVar Annotator: match by term: Myofibrillar myopathy 4 PMID:11696561|PMID:14660611|PMID:14662268|PMID:15668942|PMID:16199547|PMID:16427346|PMID:16476425|PMID:17097056|PMID:17235623|PMID:17337483|PMID:17394203|PMID:17438622|PMID:17576681|PMID:18055494|PMID:18765652|PMID:19028670|PMID:19377068|PMID:19412328|PMID:19472918|PMID:20301672|PMID:20474083|PMID:20590677|PMID:20852297|PMID:21520333|PMID:21676617|PMID:22337857|PMID:22349865|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23263837|PMID:23299917|PMID:23396983|PMID:23558691|PMID:23785128|PMID:23861362|PMID:23996002|PMID:24033266|PMID:24503780|PMID:24647531|PMID:24668811|PMID:24730657|PMID:25041374|PMID:25163546|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25326637|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:26084686|PMID:26350513|PMID:26383259|PMID:26419279|PMID:26467025|PMID:26636822|PMID:26886200|PMID:27005929|PMID:27135274|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27618136|PMID:27662471|PMID:27884173|PMID:27896284|PMID:28082330|PMID:28349680|PMID:28492532|PMID:28518168|PMID:28704380|PMID:28798025|PMID:28821295|PMID:29032884|PMID:29247119|PMID:29517769|PMID:30026549|PMID:30471092|PMID:30665703|PMID:30775854|PMID:30847666|PMID:31024045|PMID:31078652|PMID:31127727|PMID:31333075|PMID:31376648|PMID:31471687|PMID:31568572|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32183154|PMID:32721234|PMID:32746448|PMID:32880476|PMID:33029862|PMID:33297573|PMID:33308939|PMID:33500567|PMID:33552729|PMID:33742095|PMID:33815637|PMID:34088380|PMID:34935411|PMID:35284542|PMID:4855680|PMID:9536098 12271705 LDB3 LIM domain binding 3 gene DOID:0080100 congenital myopathy ISO RGD:1557802 D RGD:9068941 20220825 MouseDO OMIM:255300 12271705 LDB3 LIM domain binding 3 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1351488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:23335809|PMID:28492532|PMID:9286463|PMID:9467011 12271705 LDB3 LIM domain binding 3 gene DOID:0080307 myofibrillar myopathy ISO RGD:1351488 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy PMID:15668942|PMID:17337483|PMID:18765652|PMID:19377068|PMID:21676617|PMID:23861362|PMID:24033266|PMID:24647531|PMID:24668811|PMID:25208129|PMID:25741868|PMID:26467025|PMID:27618136|PMID:28349680|PMID:28492532|PMID:33742095|PMID:4855680 12271705 LDB3 LIM domain binding 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1351488 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:29247119|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32746448 12271705 LDB3 LIM domain binding 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1351488 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532|PMID:29247119|PMID:30847666|PMID:32746448 12271705 LDB3 LIM domain binding 3 gene DOID:0110320 hypertrophic cardiomyopathy 14 ISO RGD:1351488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 PMID:25741868 12271705 LDB3 LIM domain binding 3 gene DOID:0110423 dilated cardiomyopathy 1C ISO RGD:1351488 D RGD:7240710 20180130 OMIM 12271705 LDB3 LIM domain binding 3 gene DOID:0110423 dilated cardiomyopathy 1C ISO RGD:1351488 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION | ClinVar Annotator: match by term: Dilated cardiomyopathy 1C | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 24 | ClinVar Annotator: match by term: Left ventricular noncompaction 3 PMID:11696561|PMID:14660611|PMID:14662268|PMID:15668942|PMID:16199547|PMID:16427346|PMID:17097056|PMID:17337483|PMID:17576681|PMID:18765652|PMID:19028670|PMID:19377068|PMID:19412328|PMID:19472918|PMID:20474083|PMID:20590677|PMID:20852297|PMID:21676617|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23558691|PMID:23785128|PMID:23861362|PMID:23996002|PMID:24033266|PMID:24503780|PMID:24647531|PMID:24668811|PMID:25163546|PMID:25208129|PMID:25214167|PMID:25326637|PMID:25351510|PMID:25617006|PMID:25741868|PMID:26084686|PMID:26350513|PMID:26419279|PMID:26467025|PMID:26636822|PMID:27005929|PMID:27135274|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27618136|PMID:27884173|PMID:27896284|PMID:28082330|PMID:28349680|PMID:28492532|PMID:28518168|PMID:28704380|PMID:28798025|PMID:28821295|PMID:29032884|PMID:29247119|PMID:30026549|PMID:30665703|PMID:30847666|PMID:31024045|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32746448|PMID:33029862|PMID:33500567|PMID:33742095|PMID:33815637|PMID:34935411|PMID:35284542|PMID:4855680|PMID:9536098 12271705 LDB3 LIM domain binding 3 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1351488 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:19377068|PMID:20852297|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:27896284|PMID:28492532|PMID:29032884|PMID:30847666|PMID:31078652|PMID:31737537|PMID:33500567|PMID:34935411 12271705 LDB3 LIM domain binding 3 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1351488 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:19377068|PMID:20852297|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:27896284|PMID:28492532|PMID:29032884|PMID:30847666|PMID:31078652|PMID:31737537|PMID:33500567|PMID:34935411 12271705 LDB3 LIM domain binding 3 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1351488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:15668942|PMID:20474083|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25326637|PMID:25741868|PMID:27005929|PMID:27884173|PMID:27896284|PMID:28349680|PMID:28492532|PMID:33029862 12271705 LDB3 LIM domain binding 3 gene DOID:0110458 dilated cardiomyopathy 1BB ISO RGD:1351488 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy PMID:19377068|PMID:23396983|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532 12271705 LDB3 LIM domain binding 3 gene DOID:11720 distal myopathy ISO RGD:1351488 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.A165V (human) PMID:17337483|REF_RGD_ID:11068981 12271705 LDB3 LIM domain binding 3 gene DOID:11722 myotonic dystrophy type 1 ISO RGD:1351488 D RGD:9068941 20200609 RGD mRNA, protein:alternative form:exon PMID:24878509|REF_RGD_ID:12792205 12271705 LDB3 LIM domain binding 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1351488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17235623|PMID:17394203|PMID:17438622|PMID:23299917|PMID:24033266|PMID:25041374|PMID:25616123|PMID:25741868|PMID:27532257|PMID:27561770|PMID:27896284|PMID:28492532|PMID:31078652 12271705 LDB3 LIM domain binding 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:19377068|PMID:19412328|PMID:20590677|PMID:20852297|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25741868|PMID:26419279|PMID:26467025|PMID:26636822|PMID:27435932|PMID:27561770|PMID:27896284|PMID:28166811|PMID:28492532|PMID:29032884|PMID:31078652|PMID:31333075|PMID:31568572 12271705 LDB3 LIM domain binding 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351488 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:19377068|PMID:19412328|PMID:20590677|PMID:20852297|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25741868|PMID:26419279|PMID:26467025|PMID:26636822|PMID:27435932|PMID:27561770|PMID:27896284|PMID:28492532|PMID:29032884|PMID:31078652|PMID:31333075|PMID:31568572|PMID:31737537 12271705 LDB3 LIM domain binding 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351488 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:19377068|PMID:19412328|PMID:20590677|PMID:20852297|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:26419279|PMID:26467025|PMID:26636822|PMID:27435932|PMID:27561770|PMID:27896284|PMID:28492532|PMID:29032884|PMID:30847666|PMID:31078652|PMID:31333075|PMID:31568572|PMID:31737537|PMID:33500567|PMID:33552729|PMID:34935411 12271705 LDB3 LIM domain binding 3 gene DOID:12930 dilated cardiomyopathy no_association ISO RGD:1351488 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.D117N (human) PMID:26419279|REF_RGD_ID:11527732 12271705 LDB3 LIM domain binding 3 gene DOID:2843 long QT syndrome ISO RGD:1351488 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 12271705 LDB3 LIM domain binding 3 gene DOID:422 congenital structural myopathy ISO RGD:1557802 D RGD:9068941 20200609 RGD PMID:11696561|REF_RGD_ID:1581815 12271705 LDB3 LIM domain binding 3 gene DOID:440 neuromuscular disease ISO RGD:1351488 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:15668942|PMID:17337483|PMID:18765652|PMID:19377068|PMID:21676617|PMID:24033266|PMID:24647531|PMID:24668811|PMID:25208129|PMID:25741868|PMID:26467025|PMID:27618136|PMID:28349680|PMID:28492532|PMID:33742095|PMID:4855680 12271705 LDB3 LIM domain binding 3 gene DOID:630 genetic disease ISO RGD:1351488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12271705 LDB3 LIM domain binding 3 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1351488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31333075|PMID:31568572 12271705 LDB3 LIM domain binding 3 gene DOID:9000596 Isolated Noncompaction of the Ventricular Myocardium ISO RGD:1351488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated Noncompaction of the Ventricular Myocardium PMID:25741868|PMID:28492532 12271705 LDB3 LIM domain binding 3 gene DOID:9000655 Hereditary Motor Neuropathy with Myopathic Features ISO RGD:1351488 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neuromyopathy PMID:15668942|PMID:17337483|PMID:18765652|PMID:19377068|PMID:21676617|PMID:24033266|PMID:24647531|PMID:24668811|PMID:25208129|PMID:25741868|PMID:26467025|PMID:27618136|PMID:28349680|PMID:28492532|PMID:33742095|PMID:4855680 12271705 LDB3 LIM domain binding 3 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1351488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868 12271705 LDB3 LIM domain binding 3 gene DOID:9005160 Myofibrillar Myopathy, ZASP-Related ISO RGD:1351488 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy, ZASP-related PMID:11696561|PMID:14660611|PMID:14662268|PMID:15668942|PMID:16199547|PMID:16427346|PMID:17097056|PMID:17235623|PMID:17337483|PMID:17394203|PMID:17438622|PMID:17576681|PMID:18765652|PMID:19028670|PMID:19377068|PMID:19412328|PMID:19472918|PMID:20474083|PMID:20590677|PMID:20852297|PMID:21676617|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23396983|PMID:23558691|PMID:23785128|PMID:23861362|PMID:23996002|PMID:24033266|PMID:24503780|PMID:24647531|PMID:24668811|PMID:24730657|PMID:25041374|PMID:25163546|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25326637|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:26084686|PMID:26350513|PMID:26383259|PMID:26419279|PMID:26467025|PMID:26636822|PMID:26886200|PMID:27005929|PMID:27135274|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27618136|PMID:27662471|PMID:27884173|PMID:27896284|PMID:28082330|PMID:28349680|PMID:28492532|PMID:28518168|PMID:28704380|PMID:28798025|PMID:28821295|PMID:29032884|PMID:29247119|PMID:29517769|PMID:30026549|PMID:30665703|PMID:30775854|PMID:30847666|PMID:31024045|PMID:31078652|PMID:31333075|PMID:31376648|PMID:31471687|PMID:31568572|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32746448|PMID:32880476|PMID:33029862|PMID:33297573|PMID:33500567|PMID:33552729|PMID:33742095|PMID:33815637|PMID:34935411|PMID:35284542|PMID:4855680|PMID:9536098 12271705 LDB3 LIM domain binding 3 gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1351488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:25741868|PMID:28492532 12271746 ATP2C2 ATPase secretory pathway Ca2+ transporting 2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:732511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12271746 ATP2C2 ATPase secretory pathway Ca2+ transporting 2 gene DOID:630 genetic disease ISO RGD:732511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12271777 RARA retinoic acid receptor alpha gene DOID:0060318 acute promyelocytic leukemia ISO RGD:733999 D RGD:7240710 20180130 OMIM 12271777 RARA retinoic acid receptor alpha gene DOID:11446 sciatic neuropathy ISO RGD:733999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16782282 12271777 RARA retinoic acid receptor alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:3534 D RGD:9068941 20200609 RGD PMID:17956549|REF_RGD_ID:2314289 12271777 RARA retinoic acid receptor alpha gene DOID:3324 mood disorder ISO RGD:733999 D RGD:9068941 20200609 RGD PMID:19596122|REF_RGD_ID:2314250 12271777 RARA retinoic acid receptor alpha gene DOID:630 genetic disease ISO RGD:733999 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15193451|PMID:25741868|PMID:9111026 12271777 RARA retinoic acid receptor alpha gene DOID:684 hepatocellular carcinoma ISO RGD:733999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18026104 12271777 RARA retinoic acid receptor alpha gene DOID:9000039 Spinal Cord Injuries ISO RGD:3534 D RGD:9068941 20200609 RGD PMID:16420438|REF_RGD_ID:2314291 12271777 RARA retinoic acid receptor alpha gene DOID:9003370 Dyslipidemias ISO RGD:733999 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 12271777 RARA retinoic acid receptor alpha gene DOID:9004240 Phyllodes Tumor ISO RGD:733999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 12271777 RARA retinoic acid receptor alpha gene DOID:9005715 Neoplasms, Second Primary ISO RGD:733999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19884644 12271777 RARA retinoic acid receptor alpha gene DOID:9006947 Fibroadenoma ISO RGD:733999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 12271777 RARA retinoic acid receptor alpha gene DOID:9008939 Breast Neoplasms ISO RGD:733999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 12271809 EPCAM epithelial cell adhesion molecule gene DOID:0060776 congenital diarrhea 5 with tufting enteropathy ISO RGD:1345999 D RGD:7240710 20180130 OMIM 12271809 EPCAM epithelial cell adhesion molecule gene DOID:0060776 congenital diarrhea 5 with tufting enteropathy ISO RGD:1345999 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital diarrhea 5 with tufting enteropathy | ClinVar Annotator: match by term: Congenital tufting enteropathy PMID:15849733|PMID:16199547|PMID:18572020|PMID:19098912|PMID:19455606|PMID:19820410|PMID:20034091|PMID:20981223|PMID:21315192|PMID:23264089|PMID:23462293|PMID:23938213|PMID:24033266|PMID:24142340|PMID:24337010|PMID:25637381|PMID:25741868|PMID:28361844|PMID:28492532|PMID:28701297|PMID:36988593 12271809 EPCAM epithelial cell adhesion molecule gene DOID:0070223 progressive familial intrahepatic cholestasis 3 ISO RGD:1345999 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis PMID:25741868|PMID:28492532 12271809 EPCAM epithelial cell adhesion molecule gene DOID:0070270 hereditary nonpolyposis colorectal cancer type 8 ISO RGD:1345999 D RGD:7240710 20180130 OMIM 12271809 EPCAM epithelial cell adhesion molecule gene DOID:0070270 hereditary nonpolyposis colorectal cancer type 8 ISO RGD:1345999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 8 PMID:16951683|PMID:19098912|PMID:25741868|PMID:28492532 12271809 EPCAM epithelial cell adhesion molecule gene DOID:0070271 Lynch syndrome 1 ISO RGD:1345999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:24033266|PMID:25741868|PMID:28492532 12271809 EPCAM epithelial cell adhesion molecule gene DOID:10534 stomach cancer ISO RGD:1345999 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:18572020|PMID:20034091|PMID:23462293|PMID:36988593 12271809 EPCAM epithelial cell adhesion molecule gene DOID:1520 colon carcinoma ISO RGD:1345999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon 12271809 EPCAM epithelial cell adhesion molecule gene DOID:1793 pancreatic cancer ISO RGD:1345999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17446842 12271809 EPCAM epithelial cell adhesion molecule gene DOID:2394 ovarian cancer ISO RGD:1345999 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 12271809 EPCAM epithelial cell adhesion molecule gene DOID:305 carcinoma ISO RGD:1345999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12271809 EPCAM epithelial cell adhesion molecule gene DOID:3525 middle cerebral artery infarction ISO RGD:621365 D RGD:9068941 20200609 RGD PMID:15950761|REF_RGD_ID:11038820 12271809 EPCAM epithelial cell adhesion molecule gene DOID:3883 Lynch syndrome ISO RGD:1345999 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:11830542|PMID:11857745|PMID:12373605|PMID:14729822|PMID:14871915|PMID:15713769|PMID:15849733|PMID:15870828|PMID:15942939|PMID:16086322|PMID:16142001|PMID:16143124|PMID:16199547|PMID:16736289|PMID:16941473|PMID:17250661|PMID:17576681|PMID:18307539|PMID:18572020|PMID:19098912|PMID:19177550|PMID:19250818|PMID:19455606|PMID:19526325|PMID:19930554|PMID:20034091|PMID:20587412|PMID:20591884|PMID:20864635|PMID:20981223|PMID:21145788|PMID:21227399|PMID:21309036|PMID:21315192|PMID:21642682|PMID:21791569|PMID:22243433|PMID:22283331|PMID:22658618|PMID:22883484|PMID:23264089|PMID:23454724|PMID:23462293|PMID:23801599|PMID:23938213|PMID:24033266|PMID:24142340|PMID:24244552|PMID:24323032|PMID:24337010|PMID:24362816|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25759555|PMID:25980754|PMID:26530882|PMID:27064304|PMID:27144940|PMID:28361844|PMID:28492532|PMID:28701297|PMID:30374176|PMID:9536098|PMID:9843200 12271809 EPCAM epithelial cell adhesion molecule gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1345999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:32566746 12271809 EPCAM epithelial cell adhesion molecule gene DOID:630 genetic disease ISO RGD:1345999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12271809 EPCAM epithelial cell adhesion molecule gene DOID:684 hepatocellular carcinoma severity ISO RGD:1345999 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:24616575|REF_RGD_ID:14695007 12271809 EPCAM epithelial cell adhesion molecule gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1345999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12271809 EPCAM epithelial cell adhesion molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:621365 D RGD:9068941 20200609 RGD PMID:23390083|REF_RGD_ID:9685143 12271809 EPCAM epithelial cell adhesion molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12271809 EPCAM epithelial cell adhesion molecule gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12271809 EPCAM epithelial cell adhesion molecule gene DOID:9002762 Ovarian Neoplasms ISO RGD:1345999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20870202 12271809 EPCAM epithelial cell adhesion molecule gene DOID:9002928 Colonic Neoplasms ISO RGD:1345999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colonic neoplasm 12271809 EPCAM epithelial cell adhesion molecule gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1345999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12271809 EPCAM epithelial cell adhesion molecule gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 12271825 UNC93B1 unc-93 homolog B1, TLR signaling regulator gene DOID:1059 intellectual disability ISO RGD:1323726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12271825 UNC93B1 unc-93 homolog B1, TLR signaling regulator gene DOID:5082 liver cirrhosis ISO RGD:1323726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12271825 UNC93B1 unc-93 homolog B1, TLR signaling regulator gene DOID:630 genetic disease ISO RGD:1323726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12271825 UNC93B1 unc-93 homolog B1, TLR signaling regulator gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12271825 UNC93B1 unc-93 homolog B1, TLR signaling regulator gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1323726 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12271825 UNC93B1 unc-93 homolog B1, TLR signaling regulator gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1323726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12271825 UNC93B1 unc-93 homolog B1, TLR signaling regulator gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1323726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12271825 UNC93B1 unc-93 homolog B1, TLR signaling regulator gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1323726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12271825 UNC93B1 unc-93 homolog B1, TLR signaling regulator gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1323726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:16973841|PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 12271825 UNC93B1 unc-93 homolog B1, TLR signaling regulator gene DOID:9009070 Herpes Simplex Encephalitis 1 susceptibility ISO RGD:1323726 D RGD:7240710 20190502 OMIM 12271842 KIAA1109 KIAA1109 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1344341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12271842 KIAA1109 KIAA1109 gene DOID:0111555 Alkuraya-Kucinskas syndrome ISO RGD:1344341 D RGD:7240710 20190315 OMIM 12271842 KIAA1109 KIAA1109 gene DOID:0111555 Alkuraya-Kucinskas syndrome ISO RGD:1344341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkuraya-Kucinskas syndrome PMID:25558065|PMID:25741868|PMID:29290337 12271842 KIAA1109 KIAA1109 gene DOID:11836 clubfoot ISO RGD:1344341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868|PMID:29290337|PMID:31680349 12271842 KIAA1109 KIAA1109 gene DOID:14766 renal agenesis ISO RGD:1344341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal agenesis PMID:25741868|PMID:29290337|PMID:31680349 12271842 KIAA1109 KIAA1109 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1344341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:25558065 12271842 KIAA1109 KIAA1109 gene DOID:630 genetic disease ISO RGD:1344341 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12271842 KIAA1109 KIAA1109 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1344341 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 12271842 KIAA1109 KIAA1109 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12271932 CD209 CD209 molecule gene DOID:0050598 extrapulmonary tuberculosis susceptibility ISO RGD:1320216 D RGD:9068941 20201016 RGD DNA:SNPs:promoter: -939G>A,-871A>G (rs735239) (human) PMID:24874302|REF_RGD_ID:39938981 12271932 CD209 CD209 molecule gene DOID:0050827 rheumatic heart disease ISO RGD:1320216 D RGD:9068941 20210219 RGD protein:increased expression:left cardiac atrium, dendritic cell (human) PMID:30261069|REF_RGD_ID:41410815 12271932 CD209 CD209 molecule gene DOID:0080490 mucolipidosis type IV ISO RGD:1320216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12271932 CD209 CD209 molecule gene DOID:0080599 Coronavirus infectious disease ISO RGD:1320216 D RGD:9068941 20200609 RGD PMID:20864747|REF_RGD_ID:5131184 12271932 CD209 CD209 molecule gene DOID:0080600 COVID-19 ISO RGD:1320216 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 12271932 CD209 CD209 molecule gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1320216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 12271932 CD209 CD209 molecule gene DOID:11650 bronchopulmonary dysplasia ISO RGD:1320216 D RGD:9068941 20200609 RGD PMID:20050784|REF_RGD_ID:5131185 12271932 CD209 CD209 molecule gene DOID:12205 dengue disease ISO RGD:1320216 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dengue fever, protection against | ClinVar Annotator: match by term: Dengue virus, susceptibility to PMID:15564514|PMID:15838506|PMID:16379498|PMID:25741868 12271932 CD209 CD209 molecule gene DOID:12205 dengue disease severity ISO RGD:1320216 D RGD:9068941 20201029 RGD DNA:SNP:promoter: -336G>A (human) PMID:16274635|REF_RGD_ID:39939064 12271932 CD209 CD209 molecule gene DOID:12205 dengue disease susceptibility ISO RGD:1320216 D RGD:7240710 20230505 OMIM 12271932 CD209 CD209 molecule gene DOID:12206 dengue hemorrhagic fever severity ISO RGD:1320216 D RGD:9068941 20210219 RGD DNA:SNPs:introns, promoter:multiple (human) PMID:15838506|REF_RGD_ID:39938993 12271932 CD209 CD209 molecule gene DOID:12206 dengue hemorrhagic fever susceptibility ISO RGD:1320216 D RGD:9068941 20210219 RGD DNA:SNP:promoter: -336 A>G (rs4804803) (human) PMID:21245921|REF_RGD_ID:41410809 12271932 CD209 CD209 molecule gene DOID:13564 aspergillosis ISO RGD:1320216 D RGD:9068941 20200609 RGD PMID:21381282|REF_RGD_ID:5131183 12271932 CD209 CD209 molecule gene DOID:1883 hepatitis C ISO RGD:1320216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27385120 12271932 CD209 CD209 molecule gene DOID:2841 asthma ISO RGD:1320216 D RGD:9068941 20200609 RGD PMID:21471959|REF_RGD_ID:5131188 12271932 CD209 CD209 molecule gene DOID:2957 pulmonary tuberculosis ISO RGD:1320216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16379498 12271932 CD209 CD209 molecule gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1320216 D RGD:9068941 20201016 RGD DNA:SNPs:promoter:-139G>A, -336A>G, -871A>G (rs2287886,rs4804803,rs735239) (human) PMID:24874302|REF_RGD_ID:39938981 12271932 CD209 CD209 molecule gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1320216 D RGD:9068941 20201029 RGD associated with HIV Seropositivity; DNA:SNP:promoter: -336A>G (rs4804803) (human) PMID:19126442|REF_RGD_ID:39939062 12271932 CD209 CD209 molecule gene DOID:399 tuberculosis ISO RGD:1320216 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:15564514|PMID:15838506|PMID:16379498|PMID:25741868 12271932 CD209 CD209 molecule gene DOID:399 tuberculosis susceptibility ISO RGD:1320216 D RGD:7240710 20190502 OMIM 12271932 CD209 CD209 molecule gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1320216 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:15564514|PMID:15838506|PMID:16379498|PMID:25741868 12271932 CD209 CD209 molecule gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:1320216 D RGD:7240710 20190502 OMIM 12271932 CD209 CD209 molecule gene DOID:630 genetic disease ISO RGD:1320216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12271932 CD209 CD209 molecule gene DOID:635 acquired immunodeficiency syndrome disease_progression ISO RGD:1320216 D RGD:9068941 20201029 RGD associated with factor VIII deficiency; DNA:SNP:promoter: g.-139C>T (rs2287886) (human) PMID:17530998|REF_RGD_ID:39939010 12271932 CD209 CD209 molecule gene DOID:6432 pulmonary hypertension ISO RGD:1320216 D RGD:9068941 20200609 RGD PMID:17107989|REF_RGD_ID:5131187 12271932 CD209 CD209 molecule gene DOID:9001488 Human Influenza susceptibility ISO RGD:1320216 D RGD:9068941 20200609 RGD PMID:21191006|REF_RGD_ID:5131189 12271932 CD209 CD209 molecule gene DOID:9002670 HTLV-I Infections susceptibility ISO RGD:1320216 D RGD:9068941 20210219 RGD DNA:SNPs,haplotypes:promoter:multiple (human) PMID:19264667|REF_RGD_ID:41410814 12271932 CD209 CD209 molecule gene DOID:9003219 Invasive Pulmonary Aspergillosis susceptibility ISO RGD:1320216 D RGD:9068941 20201022 RGD DNA:SNPs:3'utr,intron:multiple PMID:22384201|REF_RGD_ID:39938996 12271932 CD209 CD209 molecule gene DOID:9004017 Chronic Hepatitis C ISO RGD:1320216 D RGD:9068941 20201022 RGD DNA:SNPs,haplotypes:promoter: -939G>A, -871A>G (human) PMID:27348632|REF_RGD_ID:39939007 12271955 BTBD16 BTB domain containing 16 gene DOID:10283 prostate cancer ISO RGD:1322924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12271955 BTBD16 BTB domain containing 16 gene DOID:2340 craniosynostosis ISO RGD:1322924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 12271955 BTBD16 BTB domain containing 16 gene DOID:630 genetic disease ISO RGD:1322924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12271980 USP6NL USP6 N-terminal like gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1323420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12271980 USP6NL USP6 N-terminal like gene DOID:1909 melanoma ISO RGD:1323420 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12271980 USP6NL USP6 N-terminal like gene DOID:630 genetic disease ISO RGD:1323420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272008 RAPGEF4 Rap guanine nucleotide exchange factor 4 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1351048 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12272008 RAPGEF4 Rap guanine nucleotide exchange factor 4 gene DOID:12849 autistic disorder ISO RGD:1351048 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:14593429|REF_RGD_ID:9835387 12272008 RAPGEF4 Rap guanine nucleotide exchange factor 4 gene DOID:630 genetic disease ISO RGD:1351048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272008 RAPGEF4 Rap guanine nucleotide exchange factor 4 gene DOID:9007730 Burns treatment ISO RGD:621886 D RGD:9068941 20200609 RGD PMID:24973766|REF_RGD_ID:9850087 12272054 DHX15 DEAH-box helicase 15 gene DOID:630 genetic disease ISO RGD:1317633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272054 DHX15 DEAH-box helicase 15 gene DOID:9119 acute myeloid leukemia ISO RGD:1317633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27798625|PMID:29163777 12272072 RNF222 ring finger protein 222 gene DOID:630 genetic disease ISO RGD:2299989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:0050860 colorectal adenoma ISO RGD:1316000 D RGD:9068941 20210924 RGD protein:decreased expression:colorectum (human) PMID:28423721|REF_RGD_ID:150429743 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1316000 D RGD:9068941 20210924 RGD mRNA:increased expression:tongue squamous epithelium (human) PMID:28319306|REF_RGD_ID:150429750 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:0050933 ovarian serous carcinoma ISO RGD:1316000 D RGD:9068941 20200609 RGD ovarian serous carcinoma; DNA:loss of heterozygosity:tumor:24/28 (86%) of high-grade tumors, also decreased expression in 96/128 (75%) of tumors PMID:16627982|REF_RGD_ID:2293332 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:11054 urinary bladder cancer ISO RGD:1316000 D RGD:9068941 20200609 RGD PMID:15665277|REF_RGD_ID:2306057 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:1324 lung cancer ameliorates ISO RGD:1316000 D RGD:9068941 20211001 RGD DNA:SNP:promoter: -1304T>G (rs3826392) (human) PMID:20554746|REF_RGD_ID:150429822 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:1793 pancreatic cancer ISO RGD:1316000 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:224 transient cerebral ischemia ISO RGD:1307040 D RGD:9068941 20200609 RGD protein:increased threonine phosphorylation:heart, nucleus PMID:9195981|REF_RGD_ID:7495830 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:2615 papilloma ISO RGD:1316001 D RGD:9068941 20200609 RGD PMID:20610622|REF_RGD_ID:7495823 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:2876 laryngeal squamous cell carcinoma severity ISO RGD:1316000 D RGD:9068941 20211001 RGD associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human) PMID:19513509|REF_RGD_ID:150429781 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1316000 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain metastases:10-fold lower expression in metastases vs primary tumors PMID:15592684|REF_RGD_ID:2289400 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1316000 D RGD:9068941 20200609 RGD PMID:20699612|REF_RGD_ID:5490968 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:3717 gastric adenocarcinoma severity ISO RGD:1316000 D RGD:9068941 20211001 RGD protein:decreased expression: stomach (human) PMID:17116802|REF_RGD_ID:150429780 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:3717 gastric adenocarcinoma severity ISO RGD:1316000 D RGD:9068941 20211001 RGD protein:increased expression:stomach (human) PMID:10854223|REF_RGD_ID:150429764 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1316000 D RGD:9068941 20211001 RGD associated with Postoperative Complications;DNA:SNP:intron: (rs12452497)(human) PMID:26165383|REF_RGD_ID:11521299 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1316001 D RGD:9068941 20211001 RGD PMID:12231543|REF_RGD_ID:150429821 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1316001 D RGD:9068941 20211001 RGD PMID:21896780|REF_RGD_ID:150429783 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:630 genetic disease ISO RGD:1316000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1316000 D RGD:9068941 20211001 RGD protein:decreased expression:liver (human) PMID:32850377|REF_RGD_ID:150429765 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:769 neuroblastoma ISO RGD:1316000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:8634 prostate carcinoma in situ disease_progression ISO RGD:1316000 D RGD:9068941 20200609 RGD protein:increased expression PMID:17577251|REF_RGD_ID:2293334 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1316001 D RGD:9068941 20200609 RGD PMID:21454599|REF_RGD_ID:7495828 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9000774 Brain Death ISO RGD:1307040 D RGD:9068941 20200609 RGD PMID:23157661|REF_RGD_ID:7495829 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1316000 D RGD:9068941 20210924 RGD associated with oral squamous cell carcinoma;mRNA, protein:increased expression:lymph node (human) PMID:22165133|REF_RGD_ID:150429749 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:1307040 D RGD:9068941 20200609 RGD PMID:19668425|REF_RGD_ID:7495824 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316000 D RGD:9068941 20200609 RGD protein:increased expression:tumor:increased in high-grade prostatic intraepithelial neoplasias and tumor tissues (p<0.0001) PMID:17577251|REF_RGD_ID:2293334 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316001 D RGD:9068941 20200609 RGD protein:increased expression:tumor:increased in high-grade prostatic intraepithelial neoplasias and tumor tissues (p<0.0001) PMID:17577251|REF_RGD_ID:2293334 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1316000 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:significant inverse correlation between Gleason pattern and expression (p<0.01) PMID:11306453|REF_RGD_ID:2293333 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1316001 D RGD:9068941 20200609 RGD expression inhibits metastatic colonization of secondary sites by cancer cells in the AT6.1 model system PMID:16322247|REF_RGD_ID:2293337 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1316001 D RGD:9068941 20200609 RGD expression inhibits metastatic colonization of secondary sites by cancer cells in the SKOV3ip.1 cell line model system PMID:16489030|REF_RGD_ID:2293338 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9004464 Skin Neoplasms treatment ISO RGD:1316001 D RGD:9068941 20200609 RGD PMID:21378167|REF_RGD_ID:7495826 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9007980 Sleep Deprivation ISO RGD:1307040 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:mandible condylar process PMID:23859770|REF_RGD_ID:7495827 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:1316000 D RGD:9068941 20200609 RGD DNA:SNP, haplotype PMID:19404734|REF_RGD_ID:7495825 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1316000 D RGD:9068941 20211001 RGD DNA:SNPs:promoter: -1304G>G, -1304T>G (rs3826392) (human) PMID:19610067|REF_RGD_ID:150429744 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9256 colorectal cancer severity ISO RGD:1316000 D RGD:9068941 20210924 RGD protein:decreased expression:colorectum (human) PMID:28423721|REF_RGD_ID:150429743 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9261 nasopharynx carcinoma ameliorates ISO RGD:1316000 D RGD:9068941 20211001 RGD DNA:SNP:promoter: -1304T>G, -1304G>G (human) PMID:27373035|REF_RGD_ID:150429759 12272083 MAP2K4 mitogen-activated protein kinase kinase 4 gene DOID:9261 nasopharynx carcinoma ameliorates ISO RGD:1316000 D RGD:9068941 20211001 RGD associated with Epstein-Barr Virus Infections; DNA:SNPs:promoter: -1304G>G, -1304T>G (human) PMID:21702039|REF_RGD_ID:150429763 12272099 ZNF48 zinc finger protein 48 gene DOID:10283 prostate cancer ISO RGD:1343499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12272099 ZNF48 zinc finger protein 48 gene DOID:630 genetic disease ISO RGD:1343499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272123 STX18 syntaxin 18 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1320740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12272123 STX18 syntaxin 18 gene DOID:630 genetic disease ISO RGD:1320740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272151 GXYLT2 glucoside xylosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1625085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272161 OR1D10P olfactory receptor family 1 subfamily D member 10, pseudogene gene DOID:630 genetic disease ISO RGD:1353920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272166 MYBPHL myosin binding protein H like gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1606910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12272166 MYBPHL myosin binding protein H like gene DOID:12849 autistic disorder ISO RGD:1606910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12272166 MYBPHL myosin binding protein H like gene DOID:2843 long QT syndrome ISO RGD:1606910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12272166 MYBPHL myosin binding protein H like gene DOID:630 genetic disease ISO RGD:1606910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272166 MYBPHL myosin binding protein H like gene DOID:9008386 Hydrops Fetalis ISO RGD:1606910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 12272189 JTB jumping translocation breakpoint gene DOID:0070048 GAND syndrome ISO RGD:736325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 12272189 JTB jumping translocation breakpoint gene DOID:0111940 immunodeficiency 42 ISO RGD:736325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12272189 JTB jumping translocation breakpoint gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:736325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12272189 JTB jumping translocation breakpoint gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:736325 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12272189 JTB jumping translocation breakpoint gene DOID:1540 parathyroid carcinoma ISO RGD:736325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12272189 JTB jumping translocation breakpoint gene DOID:5812 MHC class II deficiency ISO RGD:736325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12272189 JTB jumping translocation breakpoint gene DOID:630 genetic disease ISO RGD:736325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272189 JTB jumping translocation breakpoint gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12272198 C11H5orf15 chromosome 11 C5orf15 homolog gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321206 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12272198 C11H5orf15 chromosome 11 C5orf15 homolog gene DOID:630 genetic disease ISO RGD:1321206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272198 C11H5orf15 chromosome 11 C5orf15 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12272198 C11H5orf15 chromosome 11 C5orf15 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321206 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12272206 PLCH1 phospholipase C eta 1 gene DOID:630 genetic disease ISO RGD:1349228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272206 PLCH1 phospholipase C eta 1 gene DOID:9001056 Holoprosencephaly 14 ISO RGD:1349228 D RGD:7240710 20220608 OMIM 12272206 PLCH1 phospholipase C eta 1 gene DOID:9001056 Holoprosencephaly 14 ISO RGD:1349228 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 14 PMID:33820834 12272261 OR13C8 olfactory receptor family 13 subfamily C member 8 gene DOID:630 genetic disease ISO RGD:1343666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272268 ATMIN ATM interactor gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1603699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 12272268 ATMIN ATM interactor gene DOID:630 genetic disease ISO RGD:1603699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272276 SNX5 sorting nexin 5 gene DOID:630 genetic disease ISO RGD:1320945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272276 SNX5 sorting nexin 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:1320945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12272276 SNX5 sorting nexin 5 gene DOID:9000918 Disease Progression ISO RGD:1320945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12272307 SLC35D3 solute carrier family 35 member D3 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1319766 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12272307 SLC35D3 solute carrier family 35 member D3 gene DOID:0111955 immunodeficiency 27A ISO RGD:1319766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 12272307 SLC35D3 solute carrier family 35 member D3 gene DOID:630 genetic disease ISO RGD:1319766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272307 SLC35D3 solute carrier family 35 member D3 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1319766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:26642243|PMID:28492532|PMID:29572183|PMID:8960473|PMID:9806040 12272417 ADAT3 adenosine deaminase tRNA specific 3 gene DOID:0081099 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies ISO RGD:1603369 D RGD:7240710 20180130 OMIM 12272417 ADAT3 adenosine deaminase tRNA specific 3 gene DOID:0081099 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies ISO RGD:1603369 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability-strabismus syndrome PMID:23620220|PMID:25558065|PMID:25741868|PMID:26842963|PMID:29796286|PMID:30296593|PMID:32214227|PMID:32860008 12272417 ADAT3 adenosine deaminase tRNA specific 3 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1603369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12272417 ADAT3 adenosine deaminase tRNA specific 3 gene DOID:1059 intellectual disability ISO RGD:1603369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12272417 ADAT3 adenosine deaminase tRNA specific 3 gene DOID:10907 microcephaly ISO RGD:1603369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12272417 ADAT3 adenosine deaminase tRNA specific 3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1603369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12272417 ADAT3 adenosine deaminase tRNA specific 3 gene DOID:630 genetic disease ISO RGD:1603369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12272417 ADAT3 adenosine deaminase tRNA specific 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12272428 ZPBP2 zona pellucida binding protein 2 gene DOID:0060224 atrial fibrillation ISO RGD:1603918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12272428 ZPBP2 zona pellucida binding protein 2 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1603918 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 12272428 ZPBP2 zona pellucida binding protein 2 gene DOID:630 genetic disease ISO RGD:1603918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272440 TMEM53 transmembrane protein 53 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603008 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12272440 TMEM53 transmembrane protein 53 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12272440 TMEM53 transmembrane protein 53 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603008 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12272440 TMEM53 transmembrane protein 53 gene DOID:0112340 craniotubular dysplasia Ikegawa type ISO RGD:1603008 D RGD:7240710 20220309 OMIM 12272440 TMEM53 transmembrane protein 53 gene DOID:0112340 craniotubular dysplasia Ikegawa type ISO RGD:1603008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TMEM53-related craniotubular dysplasia PMID:25741868|PMID:33824347 12272440 TMEM53 transmembrane protein 53 gene DOID:630 genetic disease ISO RGD:1603008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272447 B4GALNT4 beta-1,4-N-acetyl-galactosaminyltransferase 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12272447 B4GALNT4 beta-1,4-N-acetyl-galactosaminyltransferase 4 gene DOID:0111969 immunodeficiency 39 ISO RGD:1602277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12272447 B4GALNT4 beta-1,4-N-acetyl-galactosaminyltransferase 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12272447 B4GALNT4 beta-1,4-N-acetyl-galactosaminyltransferase 4 gene DOID:630 genetic disease ISO RGD:1602277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272465 PPP6R1 protein phosphatase 6 regulatory subunit 1 gene DOID:0110936 nemaline myopathy 5 ISO RGD:1322857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5 PMID:28492532 12272465 PPP6R1 protein phosphatase 6 regulatory subunit 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1322857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12272465 PPP6R1 protein phosphatase 6 regulatory subunit 1 gene DOID:630 genetic disease ISO RGD:1322857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272506 TTC28 tetratricopeptide repeat domain 28 gene DOID:630 genetic disease ISO RGD:1601773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12272506 TTC28 tetratricopeptide repeat domain 28 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1601773 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12272537 MRPL10 mitochondrial ribosomal protein L10 gene DOID:630 genetic disease ISO RGD:1315061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272550 TTC4 tetratricopeptide repeat domain 4 gene DOID:630 genetic disease ISO RGD:1318353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272567 WAPL WAPL cohesin release factor gene DOID:630 genetic disease ISO RGD:1319037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272593 FTH1 ferritin heavy chain 1 gene DOID:0050662 bestrophinopathy ISO RGD:732498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy PMID:25741868|PMID:28492532 12272593 FTH1 ferritin heavy chain 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21785164 12272593 FTH1 ferritin heavy chain 1 gene DOID:0080600 COVID-19 severity ISO RGD:732498 D RGD:9068941 20200625 RGD associated with hyperglycemia;protein:increased expression:serum (human) PMID:32406594|REF_RGD_ID:32698682 12272593 FTH1 ferritin heavy chain 1 gene DOID:0080600 COVID-19 severity ISO RGD:732498 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32365221|REF_RGD_ID:30310229 12272593 FTH1 ferritin heavy chain 1 gene DOID:0110396 retinitis pigmentosa 50 ISO RGD:732498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 50 PMID:25741868|PMID:28492532 12272593 FTH1 ferritin heavy chain 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:732498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12272593 FTH1 ferritin heavy chain 1 gene DOID:0111031 hemochromatosis type 5 ISO RGD:732498 D RGD:7240710 20180130 OMIM 12272593 FTH1 ferritin heavy chain 1 gene DOID:0111031 hemochromatosis type 5 ISO RGD:732498 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 5 PMID:11389486|PMID:14615048|PMID:28492532 12272593 FTH1 ferritin heavy chain 1 gene DOID:0111569 autosomal dominant vitreoretinochoroidopathy ISO RGD:732498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy PMID:14615048|PMID:25741868|PMID:28492532|PMID:28687848 12272593 FTH1 ferritin heavy chain 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732498 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14615048|PMID:25741868|PMID:28492532 12272593 FTH1 ferritin heavy chain 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:14615048|PMID:25741868|PMID:28492532|PMID:28687848 12272593 FTH1 ferritin heavy chain 1 gene DOID:1059 intellectual disability ISO RGD:732498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12272593 FTH1 ferritin heavy chain 1 gene DOID:1289 neurodegenerative disease ISO RGD:732498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 12272593 FTH1 ferritin heavy chain 1 gene DOID:1596 depressive disorder ISO RGD:732498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17063146 12272593 FTH1 ferritin heavy chain 1 gene DOID:1790 malignant mesothelioma ISO RGD:732498 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26818092 12272593 FTH1 ferritin heavy chain 1 gene DOID:2773 contact dermatitis ISO RGD:732498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12272593 FTH1 ferritin heavy chain 1 gene DOID:3070 high grade glioma ISO RGD:732498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21385903 12272593 FTH1 ferritin heavy chain 1 gene DOID:6000 congestive heart failure ISO RGD:2635 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:18992754|REF_RGD_ID:2315110 12272593 FTH1 ferritin heavy chain 1 gene DOID:630 genetic disease ISO RGD:732498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272593 FTH1 ferritin heavy chain 1 gene DOID:684 hepatocellular carcinoma ISO RGD:2635 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:9054589|REF_RGD_ID:632698 12272593 FTH1 ferritin heavy chain 1 gene DOID:9000058 Keloid ISO RGD:732498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12272593 FTH1 ferritin heavy chain 1 gene DOID:9002891 Vitelliform Macular Dystrophy 2 ISO RGD:732498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 PMID:13129869|PMID:14615048|PMID:25741868|PMID:28492532|PMID:28687848 12272593 FTH1 ferritin heavy chain 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20390345 12272593 FTH1 ferritin heavy chain 1 gene DOID:9005725 Iron Overload ISO RGD:732498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Iron Overload PMID:14615048|PMID:25741868|PMID:28492532|PMID:28687848 12272593 FTH1 ferritin heavy chain 1 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:2635 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:22639386|REF_RGD_ID:11541085 12272601 TMEM249 transmembrane protein 249 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:6767351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12272601 TMEM249 transmembrane protein 249 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:6767351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12272601 TMEM249 transmembrane protein 249 gene DOID:4621 holoprosencephaly ISO RGD:6767351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12272601 TMEM249 transmembrane protein 249 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:6767351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 12272616 CNTNAP2 contactin associated protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1352756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545|PMID:28492532|PMID:30763456 12272616 CNTNAP2 contactin associated protein 2 gene DOID:0060243 stuttering ISO RGD:1352756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21108403 12272616 CNTNAP2 contactin associated protein 2 gene DOID:0060244 specific language impairment susceptibility ISO RGD:1352756 D RGD:9068941 20200609 RGD DNA:SNPs: :(human) PMID:18987363|REF_RGD_ID:13450918 12272616 CNTNAP2 contactin associated protein 2 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:1352756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome PMID:18414213|PMID:25741868|PMID:26467025|PMID:27747449|PMID:28492532 12272616 CNTNAP2 contactin associated protein 2 gene DOID:0090130 cortical dysplasia-focal epilepsy syndrome ISO RGD:1352756 D RGD:7240710 20230510 OMIM 12272616 CNTNAP2 contactin associated protein 2 gene DOID:0090130 cortical dysplasia-focal epilepsy syndrome ISO RGD:1352756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 PMID:11568923|PMID:16199547|PMID:16571880|PMID:17576681|PMID:18179895|PMID:18414213|PMID:19302947|PMID:19896112|PMID:20711234|PMID:21827697|PMID:22031302|PMID:22872700|PMID:23714751|PMID:24083349|PMID:24807205|PMID:25045150|PMID:25167861|PMID:25621974|PMID:25640679|PMID:25741868|PMID:26350204|PMID:26467025|PMID:26843181|PMID:27066544|PMID:27439707|PMID:27621318|PMID:27734276|PMID:27747449|PMID:28440294|PMID:28492532|PMID:28726809|PMID:29261713|PMID:29358611|PMID:29788201|PMID:31875159|PMID:32860008|PMID:33895390|PMID:34540591|PMID:34778490|PMID:34926809|PMID:6564677|PMID:9536098 12272616 CNTNAP2 contactin associated protein 2 gene DOID:1059 intellectual disability ISO RGD:1352756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18179895|PMID:20711234|PMID:22872700|PMID:24807205|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27439707|PMID:28492532 12272616 CNTNAP2 contactin associated protein 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1352756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25648254 12272616 CNTNAP2 contactin associated protein 2 gene DOID:11257 social phobia susceptibility ISO RGD:1352756 D RGD:9068941 20200609 RGD DNA:SNP: :rs2710102(human) PMID:21193173|REF_RGD_ID:13450911 12272616 CNTNAP2 contactin associated protein 2 gene DOID:11832 visual epilepsy ISO RGD:1307076 D RGD:9068941 20230202 RGD PMID:28364455|REF_RGD_ID:12880397 12272616 CNTNAP2 contactin associated protein 2 gene DOID:11832 visual epilepsy ISO RGD:1316053 D RGD:9068941 20230202 RGD PMID:28364455|REF_RGD_ID:12880397 12272616 CNTNAP2 contactin associated protein 2 gene DOID:11832 visual epilepsy ISO RGD:1352756 D RGD:9068941 20230202 RGD DNA:deletions: PMID:19896112|REF_RGD_ID:13450912 12272616 CNTNAP2 contactin associated protein 2 gene DOID:12849 autistic disorder ISO RGD:1352756 D RGD:7240710 20230510 OMIM 12272616 CNTNAP2 contactin associated protein 2 gene DOID:12849 autistic disorder ISO RGD:1352756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, 15 PMID:17576681|PMID:18179893|PMID:18179894|PMID:18179895|PMID:18414213|PMID:19456320|PMID:20711234|PMID:21681106|PMID:22872700|PMID:24807205|PMID:25167861|PMID:25621974|PMID:25741868|PMID:26467025|PMID:27734276|PMID:27747449|PMID:28492532|PMID:29358611|PMID:29788201|PMID:30208311|PMID:31875159|PMID:9536098 12272616 CNTNAP2 contactin associated protein 2 gene DOID:12849 autistic disorder no_association ISO RGD:1352756 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2710102,rs7794745(human) PMID:23277129|REF_RGD_ID:13450907 12272616 CNTNAP2 contactin associated protein 2 gene DOID:12849 autistic disorder susceptibility ISO RGD:1352756 D RGD:9068941 20230511 RGD DNA:SNP: :rs7794745(human) PMID:18179894|REF_RGD_ID:13450909 12272616 CNTNAP2 contactin associated protein 2 gene DOID:13365 reading disorder susceptibility ISO RGD:1352756 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:21165691|REF_RGD_ID:13450919 12272616 CNTNAP2 contactin associated protein 2 gene DOID:14330 Parkinson's disease ISO RGD:1352756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 12272616 CNTNAP2 contactin associated protein 2 gene DOID:1470 major depressive disorder susceptibility ISO RGD:1352756 D RGD:9068941 20200609 RGD DNA:SNPs: : rs2710102,rs2710117(human) PMID:23123147|REF_RGD_ID:13450917 12272616 CNTNAP2 contactin associated protein 2 gene DOID:14731 Weaver syndrome ISO RGD:1352756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Weaver syndrome PMID:28492532 12272616 CNTNAP2 contactin associated protein 2 gene DOID:1826 epilepsy ISO RGD:1352756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12272616 CNTNAP2 contactin associated protein 2 gene DOID:2234 focal epilepsy ISO RGD:1352756 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868 12272616 CNTNAP2 contactin associated protein 2 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1352756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:18179895|PMID:22872700|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611|PMID:29788201 12272616 CNTNAP2 contactin associated protein 2 gene DOID:4186 articulation disorder susceptibility ISO RGD:1352756 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :rs253897(human) PMID:25895914|REF_RGD_ID:11529633 12272616 CNTNAP2 contactin associated protein 2 gene DOID:4189 mutism susceptibility ISO RGD:1352756 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :rs2710102,rs6944808(human) PMID:21193173|REF_RGD_ID:13450911 12272616 CNTNAP2 contactin associated protein 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1352756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 12272616 CNTNAP2 contactin associated protein 2 gene DOID:5419 schizophrenia ISO RGD:1352756 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12272616 CNTNAP2 contactin associated protein 2 gene DOID:5419 schizophrenia susceptibility ISO RGD:1352756 D RGD:9068941 20200609 RGD DNA:SNP: : rs17236239(human) PMID:23123147|REF_RGD_ID:13450917 12272616 CNTNAP2 contactin associated protein 2 gene DOID:630 genetic disease ISO RGD:1352756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18179895|PMID:18414213|PMID:19896112|PMID:20711234|PMID:21827697|PMID:22872700|PMID:23714751|PMID:24807205|PMID:25045150|PMID:25167861|PMID:25621974|PMID:25741868|PMID:26467025|PMID:26843181|PMID:27439707|PMID:27621318|PMID:27747449|PMID:28440294|PMID:28492532|PMID:29358611|PMID:29788201|PMID:31875159|PMID:6564677 12272616 CNTNAP2 contactin associated protein 2 gene DOID:8927 learning disability ISO RGD:1316053 D RGD:9068941 20200609 RGD PMID:26873041|REF_RGD_ID:13450914 12272616 CNTNAP2 contactin associated protein 2 gene DOID:9001846 Schizoaffective Disorder, Depressive Type ISO RGD:1352756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizoaffective disorder, depressive type PMID:26985448 12272616 CNTNAP2 contactin associated protein 2 gene DOID:9002362 Hyperkinesis ISO RGD:1352756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21962519 12272616 CNTNAP2 contactin associated protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352756 D RGD:9068941 20200609 RGD PMID:28572274|REF_RGD_ID:13450910 12272616 CNTNAP2 contactin associated protein 2 gene DOID:9005466 Language Development Disorders ISO RGD:1352756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20157312|PMID:21082657|PMID:21310003 12272644 ACER2 alkaline ceramidase 2 gene DOID:630 genetic disease ISO RGD:1312176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272661 TEX47 testis expressed 47 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12272704 LRTM1 leucine rich repeats and transmembrane domains 1 gene DOID:630 genetic disease ISO RGD:1606530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272725 DCTN2 dynactin subunit 2 gene DOID:0050890 synucleinopathy ISO RGD:1303182 D RGD:9068941 20200609 RGD PMID:19295143|REF_RGD_ID:11049591 12272725 DCTN2 dynactin subunit 2 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1352908 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U PMID:28492532 12272725 DCTN2 dynactin subunit 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1352908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:26517670 12272725 DCTN2 dynactin subunit 2 gene DOID:607 paraplegia ISO RGD:1352908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12272725 DCTN2 dynactin subunit 2 gene DOID:630 genetic disease ISO RGD:1352908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272725 DCTN2 dynactin subunit 2 gene DOID:6846 familial melanoma ISO RGD:1352908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 12272725 DCTN2 dynactin subunit 2 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1352908 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:28492532 12272749 RPL3 ribosomal protein L3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1345939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12272749 RPL3 ribosomal protein L3 gene DOID:305 carcinoma ISO RGD:1345939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12272749 RPL3 ribosomal protein L3 gene DOID:630 genetic disease ISO RGD:1345939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272749 RPL3 ribosomal protein L3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1345939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12272749 RPL3 ribosomal protein L3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1345939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12272763 RUFY3 RUN and FYVE domain containing 3 gene DOID:37 skin disease ISO RGD:1604831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12272763 RUFY3 RUN and FYVE domain containing 3 gene DOID:630 genetic disease ISO RGD:1604831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272763 RUFY3 RUN and FYVE domain containing 3 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1604831 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12272763 RUFY3 RUN and FYVE domain containing 3 gene DOID:9007964 Arsenic Poisoning ISO RGD:1604831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12272805 ANAPC1 anaphase promoting complex subunit 1 gene DOID:630 genetic disease ISO RGD:1353292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272805 ANAPC1 anaphase promoting complex subunit 1 gene DOID:9002189 High Myopia ISO RGD:1353292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12272805 ANAPC1 anaphase promoting complex subunit 1 gene DOID:9003349 Rothmund-Thomson Syndrome Type 1 ISO RGD:1353292 D RGD:7240710 20191030 OMIM 12272805 ANAPC1 anaphase promoting complex subunit 1 gene DOID:9003349 Rothmund-Thomson Syndrome Type 1 ISO RGD:1353292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 1 PMID:25741868|PMID:28492532|PMID:31303264 12272865 SNRPA small nuclear ribonucleoprotein polypeptide A gene DOID:10652 Alzheimer's disease ISO RGD:1316600 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (human) PMID:24023061|REF_RGD_ID:10448959 12272865 SNRPA small nuclear ribonucleoprotein polypeptide A gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1316600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12272865 SNRPA small nuclear ribonucleoprotein polypeptide A gene DOID:1342 congenital hypoplastic anemia ISO RGD:1316600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12272865 SNRPA small nuclear ribonucleoprotein polypeptide A gene DOID:2340 craniosynostosis ISO RGD:1316600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12272865 SNRPA small nuclear ribonucleoprotein polypeptide A gene DOID:630 genetic disease ISO RGD:1316600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272865 SNRPA small nuclear ribonucleoprotein polypeptide A gene DOID:65 connective tissue disease ISO RGD:1316600 D RGD:9068941 20200609 RGD PMID:2968364|REF_RGD_ID:10448928 12272865 SNRPA small nuclear ribonucleoprotein polypeptide A gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1316600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12272865 SNRPA small nuclear ribonucleoprotein polypeptide A gene DOID:9269 maple syrup urine disease ISO RGD:1316600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12272879 DGKH diacylglycerol kinase eta gene DOID:630 genetic disease ISO RGD:1352279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272879 DGKH diacylglycerol kinase eta gene DOID:9002165 Diabetic Nephropathies ISO RGD:1352279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20665664 12272924 SPATS2 spermatogenesis associated serine rich 2 gene DOID:630 genetic disease ISO RGD:1312420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272941 DNMBP dynamin binding protein gene DOID:0070354 cataract 48 ISO RGD:1349665 D RGD:7240710 20190605 OMIM 12272941 DNMBP dynamin binding protein gene DOID:0070354 cataract 48 ISO RGD:1349665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 48 PMID:25741868|PMID:30290152 12272941 DNMBP dynamin binding protein gene DOID:630 genetic disease ISO RGD:1349665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272961 PDCD4 programmed cell death 4 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:732159 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 12272961 PDCD4 programmed cell death 4 gene DOID:0110447 dilated cardiomyopathy 1DD ISO RGD:732159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532 12272961 PDCD4 programmed cell death 4 gene DOID:630 genetic disease ISO RGD:732159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12272961 PDCD4 programmed cell death 4 gene DOID:8923 skin melanoma disease_progression ISO RGD:732159 D RGD:9068941 20220630 RGD mRNA:decreased expression:skin (human) PMID:26150475|REF_RGD_ID:11342032 12272961 PDCD4 programmed cell death 4 gene DOID:9001820 Pulmonary Arterial Hypertension treatment ISO RGD:620816 D RGD:9068941 20230225 RGD PMID:30240970|REF_RGD_ID:156430315 12272961 PDCD4 programmed cell death 4 gene DOID:9002056 Arterial Injury ISO RGD:620816 D RGD:9068941 20200609 RGD PMID:20357187|REF_RGD_ID:9589087 12272961 PDCD4 programmed cell death 4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732159 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23272133 12272961 PDCD4 programmed cell death 4 gene DOID:9005172 Lung Neoplasms ISO RGD:732159 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27323401 12272961 PDCD4 programmed cell death 4 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732159 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27323401|PMID:27344173|PMID:28881718 12272983 OPTN optineurin gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:736202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 PMID:20428114|PMID:21802176|PMID:21852022|PMID:25741868|PMID:26203661|PMID:28492532 12272983 OPTN optineurin gene DOID:0060203 amyotrophic lateral sclerosis type 12 ISO RGD:736202 D RGD:7240710 20180130 OMIM 12272983 OPTN optineurin gene DOID:0060203 amyotrophic lateral sclerosis type 12 ISO RGD:736202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12 PMID:11834836|PMID:11978762|PMID:12208142|PMID:12789137|PMID:12939304|PMID:14597044|PMID:15226658|PMID:15312511|PMID:15326130|PMID:15370540|PMID:15547491|PMID:15557444|PMID:15761120|PMID:16148883|PMID:16199547|PMID:16205626|PMID:16358725|PMID:16619239|PMID:16885925|PMID:17122126|PMID:17293779|PMID:17359525|PMID:17389490|PMID:17615537|PMID:19096531|PMID:19145250|PMID:19172505|PMID:19672125|PMID:20428114|PMID:20671613|PMID:20981092|PMID:21074290|PMID:21217154|PMID:21220178|PMID:21550138|PMID:21613650|PMID:21852022|PMID:22402017|PMID:22708870|PMID:22892313|PMID:22995991|PMID:23062601|PMID:25333069|PMID:25741868|PMID:25943890|PMID:26467025|PMID:26503823|PMID:26566915|PMID:27485216|PMID:28492532|PMID:29411640|PMID:29650794|PMID:31108397|PMID:31198474|PMID:31838784|PMID:32028661|PMID:32579787|PMID:32893042 12272983 OPTN optineurin gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:736202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12272983 OPTN optineurin gene DOID:0080600 COVID-19 ISO RGD:736202 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12272983 OPTN optineurin gene DOID:0081294 neuronal intranuclear inclusion disease ISO RGD:736202 D RGD:9068941 20200609 RGD protein:increased expression:neuron, nucleus PMID:22318854|REF_RGD_ID:6480499 12272983 OPTN optineurin gene DOID:1067 open-angle glaucoma ISO RGD:736202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21059646|PMID:25096716 12272983 OPTN optineurin gene DOID:1067 open-angle glaucoma ISO RGD:736202 D RGD:9068941 20200609 RGD PMID:11834836|REF_RGD_ID:1600995 12272983 OPTN optineurin gene DOID:1067 open-angle glaucoma ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M98K (human) PMID:14627677|REF_RGD_ID:6480510 12272983 OPTN optineurin gene DOID:1067 open-angle glaucoma no_association ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:missense mutations, SNP: :multiple PMID:19096531|REF_RGD_ID:6480513 12272983 OPTN optineurin gene DOID:1067 open-angle glaucoma no_association ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M98K (human) PMID:16020311|REF_RGD_ID:6480509 12272983 OPTN optineurin gene DOID:1070 primary open angle glaucoma ISO RGD:736202 D RGD:7240710 20180130 OMIM 12272983 OPTN optineurin gene DOID:1070 primary open angle glaucoma ISO RGD:736202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:11834836|PMID:11978762|PMID:12208142|PMID:12789137|PMID:12939304|PMID:14597044|PMID:15226658|PMID:15312511|PMID:15326130|PMID:15370540|PMID:15547491|PMID:15557444|PMID:15761120|PMID:16148883|PMID:16199547|PMID:16205626|PMID:16358725|PMID:16619239|PMID:16885925|PMID:16972651|PMID:17122126|PMID:17293779|PMID:17359525|PMID:17389490|PMID:17576681|PMID:17615537|PMID:19096531|PMID:19145250|PMID:19172505|PMID:19672125|PMID:19710941|PMID:20388642|PMID:20428114|PMID:20671613|PMID:20981092|PMID:21074290|PMID:21217154|PMID:21220178|PMID:21408173|PMID:21550138|PMID:21613650|PMID:21802176|PMID:21852022|PMID:22366792|PMID:22402017|PMID:22708870|PMID:22722621|PMID:22892313|PMID:22995991|PMID:23062601|PMID:23357852|PMID:24683533|PMID:24983867|PMID:25333069|PMID:25382069|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25943890|PMID:26203661|PMID:26303227|PMID:26467025|PMID:26503823|PMID:26566915|PMID:26740678|PMID:27485216|PMID:27620379|PMID:28089114|PMID:28492532|PMID:28882891|PMID:29411640|PMID:29525178|PMID:29525180|PMID:29540704|PMID:29558868|PMID:29650794|PMID:29895397|PMID:30519240|PMID:30739198|PMID:31000212|PMID:31108397|PMID:31198474|PMID:31759189|PMID:31788332|PMID:31838784|PMID:32028661|PMID:32579787|PMID:32893042|PMID:9536098 12272983 OPTN optineurin gene DOID:1070 primary open angle glaucoma no_association ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:SNPs:cds:p.T34T,E50K,M98K,R545Q, 691_692insAG, PMID:19172505|REF_RGD_ID:7775049 12272983 OPTN optineurin gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.M98K(human) PMID:15226658|REF_RGD_ID:7775043 12272983 OPTN optineurin gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human) PMID:15557444|REF_RGD_ID:7775041 12272983 OPTN optineurin gene DOID:12858 Huntington's disease ISO RGD:736202 D RGD:9068941 20200609 RGD protein:increased expression:neuron, nucleus PMID:22318854|REF_RGD_ID:6480499 12272983 OPTN optineurin gene DOID:13544 low tension glaucoma ISO RGD:733470 D RGD:9068941 20220825 MouseDO 12272983 OPTN optineurin gene DOID:13544 low tension glaucoma susceptibility ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:SNPs:exon,introns: PMID:16148883|REF_RGD_ID:7771548 12272983 OPTN optineurin gene DOID:13544 low tension glaucoma susceptibility ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.M98K(human) PMID:15226658|REF_RGD_ID:7775043 12272983 OPTN optineurin gene DOID:13544 low tension glaucoma susceptibility ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human) PMID:15557444|REF_RGD_ID:7775041 12272983 OPTN optineurin gene DOID:13641 exfoliation syndrome no_association ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M98K (human) PMID:16020311|REF_RGD_ID:6480509 12272983 OPTN optineurin gene DOID:13948 bladder neck obstruction ISO RGD:628886 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder: PMID:16361812|REF_RGD_ID:7775024 12272983 OPTN optineurin gene DOID:14330 Parkinson's disease ISO RGD:628886 D RGD:9068941 20200609 RGD protein:increased expression:substantia nigra (rat) PMID:27473339|REF_RGD_ID:13432580 12272983 OPTN optineurin gene DOID:1686 glaucoma susceptibility ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:SNP:intron: PMID:16148883|REF_RGD_ID:7771548 12272983 OPTN optineurin gene DOID:224 transient cerebral ischemia ISO RGD:628886 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (rat) PMID:24235151|REF_RGD_ID:13434905 12272983 OPTN optineurin gene DOID:231 motor neuron disease ISO RGD:736202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:21613650|PMID:28089114|PMID:28492532|PMID:31000212|PMID:32028661 12272983 OPTN optineurin gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12272983 OPTN optineurin gene DOID:5408 Paget's disease of bone ISO RGD:736202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20436471|PMID:21059646 12272983 OPTN optineurin gene DOID:5408 Paget's disease of bone ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:SNP: :rs1561570 (human) PMID:20436471|REF_RGD_ID:6480512 12272983 OPTN optineurin gene DOID:576 proteinuria ISO RGD:628886 D RGD:9068941 20200609 RGD associated with Nephrosis, Puromycin Aminonucleoside;protein:increased expression:renal glomerulus (rat) PMID:25096716|REF_RGD_ID:13434904 12272983 OPTN optineurin gene DOID:630 genetic disease ISO RGD:736202 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11834836|PMID:12789137|PMID:12939304|PMID:14597044|PMID:15326130|PMID:16205626|PMID:16358725|PMID:17293779|PMID:17389490|PMID:17576681|PMID:17615537|PMID:19096531|PMID:19672125|PMID:20388642|PMID:20428114|PMID:21074290|PMID:21408173|PMID:21613650|PMID:21852022|PMID:22722621|PMID:22892313|PMID:25382069|PMID:25741868|PMID:25943890|PMID:26467025|PMID:26503823|PMID:28089114|PMID:28492532|PMID:28882891|PMID:29525178|PMID:29558868|PMID:30739198|PMID:31000212|PMID:32028661|PMID:32579787|PMID:9536098 12272983 OPTN optineurin gene DOID:8466 retinal degeneration ISO RGD:733470 D RGD:9068941 20200609 RGD PMID:20388642|REF_RGD_ID:6480507 12272983 OPTN optineurin gene DOID:891 progressive myoclonus epilepsy ISO RGD:736202 D RGD:9068941 20200609 RGD protein:increased expression:neuron, nucleus PMID:22318854|REF_RGD_ID:6480499 12272983 OPTN optineurin gene DOID:9000930 Dental Pulp Exposure ISO RGD:628886 D RGD:9068941 20200609 RGD mRNA:increased expression:dental pulp (rat) PMID:16109995|REF_RGD_ID:7775038 12272983 OPTN optineurin gene DOID:9001062 Normal Tension Glaucoma ISO RGD:736202 D RGD:7240710 20230505 OMIM 12272983 OPTN optineurin gene DOID:9001062 Normal Tension Glaucoma ISO RGD:736202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma, normal tension, susceptibility to PMID:11834836|PMID:11978762|PMID:12208142|PMID:15761120|PMID:16619239|PMID:25741868|PMID:28492532 12272983 OPTN optineurin gene DOID:9001600 Wounds and Injuries ISO RGD:628886 D RGD:9068941 20200609 RGD PMID:16109995|REF_RGD_ID:7775038 12272983 OPTN optineurin gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:736202 D RGD:9068941 20200609 RGD PMID:21360076|REF_RGD_ID:6480505 12272983 OPTN optineurin gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:736202 D RGD:9068941 20200609 RGD protein:increased expression:neuron, nucleus PMID:22318854|REF_RGD_ID:6480499 12272983 OPTN optineurin gene DOID:9007708 Glaucoma 1, Open Angle, E ISO RGD:736202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, E | ClinVar Annotator: match by term: Glaucoma 1, open angle, e PMID:11834836|PMID:11978762|PMID:12208142|PMID:12939304|PMID:14597044|PMID:15226658|PMID:15312511|PMID:15326130|PMID:15370540|PMID:15547491|PMID:15557444|PMID:15761120|PMID:16148883|PMID:16199547|PMID:16205626|PMID:16619239|PMID:16885925|PMID:17293779|PMID:17359525|PMID:17389490|PMID:19145250|PMID:19172505|PMID:19672125|PMID:20428114|PMID:20671613|PMID:20981092|PMID:21217154|PMID:21220178|PMID:22402017|PMID:22708870|PMID:22995991|PMID:23062601|PMID:24683533|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26566915|PMID:26740678|PMID:27485216|PMID:28492532|PMID:29411640|PMID:30519240|PMID:30739198|PMID:31108397|PMID:31198474 12272983 OPTN optineurin gene DOID:9009017 Amyotrophic Lateral Sclerosis, Autosomal Recessive ISO RGD:736202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive 12272983 OPTN optineurin gene DOID:9255 frontotemporal dementia ISO RGD:736202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia 12273002 LOC479668 haptoglobin-like gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1343438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12273002 LOC479668 haptoglobin-like gene DOID:0080600 COVID-19 ISO RGD:1343438 D RGD:9068941 20201127 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12273002 LOC479668 haptoglobin-like gene DOID:630 genetic disease ISO RGD:1343438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273011 CRYM crystallin mu gene DOID:0110566 autosomal dominant nonsyndromic deafness 40 ISO RGD:734218 D RGD:7240710 20180130 OMIM 12273011 CRYM crystallin mu gene DOID:0110566 autosomal dominant nonsyndromic deafness 40 ISO RGD:734218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 40 PMID:12471561|PMID:24033266|PMID:25741868|PMID:28492532 12273011 CRYM crystallin mu gene DOID:6000 congestive heart failure ISO RGD:734218 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12273011 CRYM crystallin mu gene DOID:630 genetic disease ISO RGD:734218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273011 CRYM crystallin mu gene DOID:9008681 Deafness ISO RGD:734218 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.K314T (human) PMID:12471561|REF_RGD_ID:734836 12273011 CRYM crystallin mu gene DOID:936 brain disease ISO RGD:734218 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4 PMID:24033266|PMID:25741868|PMID:28492532 12273023 GLI1 GLI family zinc finger 1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1344225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625222 12273023 GLI1 GLI family zinc finger 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:621673 D RGD:9068941 20211105 RGD PMID:30537251|REF_RGD_ID:150520178 12273023 GLI1 GLI family zinc finger 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1344225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23867347 12273023 GLI1 GLI family zinc finger 1 gene DOID:0080016 spina bifida ISO RGD:1344225 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:26446020|REF_RGD_ID:12801432 12273023 GLI1 GLI family zinc finger 1 gene DOID:0080600 COVID-19 ISO RGD:1344225 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12273023 GLI1 GLI family zinc finger 1 gene DOID:10283 prostate cancer ISO RGD:1344225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12273023 GLI1 GLI family zinc finger 1 gene DOID:11054 urinary bladder cancer ISO RGD:1344225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20179202 12273023 GLI1 GLI family zinc finger 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1344225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:29127258 12273023 GLI1 GLI family zinc finger 1 gene DOID:2377 multiple sclerosis ISO RGD:1344225 D RGD:9068941 20200609 RGD PMID:18991353|REF_RGD_ID:12801440 12273023 GLI1 GLI family zinc finger 1 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1344225 D RGD:9068941 20200609 RGD PMID:15308259|REF_RGD_ID:12801443 12273023 GLI1 GLI family zinc finger 1 gene DOID:3121 gallbladder cancer disease_progression ISO RGD:1344225 D RGD:9068941 20220210 RGD DNA:SNP::rs2228226(human) PMID:26715268|REF_RGD_ID:151356500 12273023 GLI1 GLI family zinc finger 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1344225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12273023 GLI1 GLI family zinc finger 1 gene DOID:5593 gastric papillary adenocarcinoma ISO RGD:1344225 D RGD:9068941 20210813 RGD protein:increased expression:stomach PMID:17259107|REF_RGD_ID:150340552 12273023 GLI1 GLI family zinc finger 1 gene DOID:574 peripheral nervous system disease ISO RGD:1344225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 12273023 GLI1 GLI family zinc finger 1 gene DOID:630 genetic disease ISO RGD:1344225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273023 GLI1 GLI family zinc finger 1 gene DOID:6595 gastric tubular adenocarcinoma ISO RGD:1344225 D RGD:9068941 20210813 RGD protein:increased expression:stomach PMID:17259107|REF_RGD_ID:150340552 12273023 GLI1 GLI family zinc finger 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1344225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26189965 12273023 GLI1 GLI family zinc finger 1 gene DOID:6846 familial melanoma ISO RGD:1344225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 12273023 GLI1 GLI family zinc finger 1 gene DOID:9000392 Fluoride Poisoning ISO RGD:621673 D RGD:9068941 20200609 RGD PMID:25623978|REF_RGD_ID:12879410 12273023 GLI1 GLI family zinc finger 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:621673 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:23933201|REF_RGD_ID:12859044 12273023 GLI1 GLI family zinc finger 1 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:621673 D RGD:9068941 20221201 RGD PMID:21063852|REF_RGD_ID:12859045 12273023 GLI1 GLI family zinc finger 1 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:621673 D RGD:9068941 20200609 RGD PMID:25821409|REF_RGD_ID:12879456 12273023 GLI1 GLI family zinc finger 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1550011 D RGD:9068941 20200609 RGD PMID:18991353|REF_RGD_ID:12801440 12273023 GLI1 GLI family zinc finger 1 gene DOID:9004978 Preaxial Polydactyly I ISO RGD:1344225 D RGD:7240710 20190529 OMIM 12273023 GLI1 GLI family zinc finger 1 gene DOID:9004978 Preaxial Polydactyly I ISO RGD:1344225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FROMONT ANOMALY | ClinVar Annotator: match by term: Polydactyly, preaxial I PMID:25741868|PMID:30620395 12273023 GLI1 GLI family zinc finger 1 gene DOID:9005329 Preaxial Polydactyly ISO RGD:1344225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: POLYDACTYLY, PREAXIAL PMID:25741868|PMID:30620395 12273023 GLI1 GLI family zinc finger 1 gene DOID:9005729 Chronic Experimental Pancreatitis ISO RGD:621673 D RGD:9068941 20200609 RGD PMID:24782623|REF_RGD_ID:12879405 12273023 GLI1 GLI family zinc finger 1 gene DOID:9008857 Postaxial Polydactyly, Type A8 ISO RGD:1344225 D RGD:7240710 20190315 OMIM 12273023 GLI1 GLI family zinc finger 1 gene DOID:9008857 Postaxial Polydactyly, Type A8 ISO RGD:1344225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A8 PMID:25741868|PMID:28973407 12273023 GLI1 GLI family zinc finger 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12273023 GLI1 GLI family zinc finger 1 gene DOID:9256 colorectal cancer ISO RGD:1344225 D RGD:9068941 20211105 RGD PMID:22901214|REF_RGD_ID:150520174 12273023 GLI1 GLI family zinc finger 1 gene DOID:9282 ocular hypertension ISO RGD:621673 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retinal ganglion cell PMID:20071678|REF_RGD_ID:2324982 12273042 GLIPR1L2 GLIPR1 like 2 gene DOID:630 genetic disease ISO RGD:1606963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273062 KPNA5 karyopherin subunit alpha 5 gene DOID:0060163 body dysmorphic disorder ISO RGD:1343568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 12273062 KPNA5 karyopherin subunit alpha 5 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1343568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12273062 KPNA5 karyopherin subunit alpha 5 gene DOID:1059 intellectual disability ISO RGD:1343568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 12273062 KPNA5 karyopherin subunit alpha 5 gene DOID:10907 microcephaly ISO RGD:1343568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 12273062 KPNA5 karyopherin subunit alpha 5 gene DOID:1826 epilepsy ISO RGD:1343568 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12273062 KPNA5 karyopherin subunit alpha 5 gene DOID:630 genetic disease ISO RGD:1343568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273062 KPNA5 karyopherin subunit alpha 5 gene DOID:9000495 Tremor ISO RGD:1343568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12273062 KPNA5 karyopherin subunit alpha 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12273083 SAMD4B sterile alpha motif domain containing 4B gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1605980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12273083 SAMD4B sterile alpha motif domain containing 4B gene DOID:630 genetic disease ISO RGD:1605980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273083 SAMD4B sterile alpha motif domain containing 4B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1605980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12273109 KCNK6 potassium two pore domain channel subfamily K member 6 gene DOID:630 genetic disease ISO RGD:735903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273122 RFX1 regulatory factor X1 gene DOID:630 genetic disease ISO RGD:1315268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273153 SLCO2B1 solute carrier organic anion transporter family member 2B1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:736486 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12273153 SLCO2B1 solute carrier organic anion transporter family member 2B1 gene DOID:1059 intellectual disability ISO RGD:736486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12273153 SLCO2B1 solute carrier organic anion transporter family member 2B1 gene DOID:1793 pancreatic cancer ISO RGD:736486 D RGD:9068941 20220623 RGD mRNA:decreased expression:pancreas (human) PMID:21625523|REF_RGD_ID:152995425 12273153 SLCO2B1 solute carrier organic anion transporter family member 2B1 gene DOID:3571 liver cancer disease_progression ISO RGD:736486 D RGD:9068941 20220623 RGD mRNA:decreased expression:liver (human) PMID:21625523|REF_RGD_ID:152995425 12273153 SLCO2B1 solute carrier organic anion transporter family member 2B1 gene DOID:630 genetic disease ISO RGD:736486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273182 PPM1F protein phosphatase, Mg2+/Mn2+ dependent 1F gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:737169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 12273182 PPM1F protein phosphatase, Mg2+/Mn2+ dependent 1F gene DOID:11198 DiGeorge syndrome ISO RGD:737169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 12273182 PPM1F protein phosphatase, Mg2+/Mn2+ dependent 1F gene DOID:630 genetic disease ISO RGD:737169 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12273197 FGF6 fibroblast growth factor 6 gene DOID:0050989 episodic ataxia type 1 ISO RGD:732549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 12273197 FGF6 fibroblast growth factor 6 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:732549 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12273197 FGF6 fibroblast growth factor 6 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:732549 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12273197 FGF6 fibroblast growth factor 6 gene DOID:630 genetic disease ISO RGD:732549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273197 FGF6 fibroblast growth factor 6 gene DOID:8634 prostate carcinoma in situ ISO RGD:732549 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:2289066|REF_RGD_ID:2301089 12273197 FGF6 fibroblast growth factor 6 gene DOID:9000955 Acute Otitis Media ISO RGD:1557013 D RGD:9068941 20210611 RGD mRNA:decreased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 12273197 FGF6 fibroblast growth factor 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732549 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:prostate PMID:10945637|REF_RGD_ID:2289066 12273197 FGF6 fibroblast growth factor 6 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:732549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12273208 PCDH12 protocadherin 12 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12273208 PCDH12 protocadherin 12 gene DOID:0111510 Marshall syndrome ISO RGD:1348823 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Marshall syndrome PMID:25741868|PMID:28492532 12273208 PCDH12 protocadherin 12 gene DOID:630 genetic disease ISO RGD:1348823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28804758 12273208 PCDH12 protocadherin 12 gene DOID:7765 Coats disease ISO RGD:1348823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative retinopathy PMID:25741868|PMID:30459466 12273208 PCDH12 protocadherin 12 gene DOID:9002171 Diencephalic-Mesencephalic Junction Dysplasia Syndromes ISO RGD:1348823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia | ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome PMID:22822038|PMID:25741868|PMID:30178464 12273208 PCDH12 protocadherin 12 gene DOID:9002568 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 ISO RGD:1348823 D RGD:7240710 20191106 OMIM 12273208 PCDH12 protocadherin 12 gene DOID:9002568 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 ISO RGD:1348823 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 PMID:22822038|PMID:25741868|PMID:27164683|PMID:28492532|PMID:29556033|PMID:30178464|PMID:33527719|PMID:7774041 12273208 PCDH12 protocadherin 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 12273208 PCDH12 protocadherin 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12273216 THAP9 THAP domain containing 9 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1349156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 12273216 THAP9 THAP domain containing 9 gene DOID:630 genetic disease ISO RGD:1349156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273225 QTRT2 queuine tRNA-ribosyltransferase accessory subunit 2 gene DOID:630 genetic disease ISO RGD:1320734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273246 LRRN2 leucine rich repeat neuronal 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1313534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12273246 LRRN2 leucine rich repeat neuronal 2 gene DOID:12849 autistic disorder ISO RGD:1313534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12273246 LRRN2 leucine rich repeat neuronal 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1313534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12273246 LRRN2 leucine rich repeat neuronal 2 gene DOID:630 genetic disease ISO RGD:1313534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273246 LRRN2 leucine rich repeat neuronal 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1313534 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12273246 LRRN2 leucine rich repeat neuronal 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12273281 EML5 EMAP like 5 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:1350172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 12273281 EML5 EMAP like 5 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1350172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12273281 EML5 EMAP like 5 gene DOID:630 genetic disease ISO RGD:1350172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273340 LOC491462 zinc finger protein OZF-like gene DOID:630 genetic disease ISO RGD:1348673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273346 SLC6A14 solute carrier family 6 member 14 gene DOID:0050589 inflammatory bowel disease ISO RGD:1561810 D RGD:9068941 20200609 RGD protein:decreased expression:epithelial cell, colon PMID:17065219|REF_RGD_ID:1625272 12273346 SLC6A14 solute carrier family 6 member 14 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12273346 SLC6A14 solute carrier family 6 member 14 gene DOID:10608 celiac disease ISO RGD:1347984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 12273346 SLC6A14 solute carrier family 6 member 14 gene DOID:12849 autistic disorder ISO RGD:1347984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12273346 SLC6A14 solute carrier family 6 member 14 gene DOID:1485 cystic fibrosis ISO RGD:1347984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22466613 12273346 SLC6A14 solute carrier family 6 member 14 gene DOID:630 genetic disease ISO RGD:1347984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273346 SLC6A14 solute carrier family 6 member 14 gene DOID:8437 intestinal obstruction ISO RGD:1347984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22466613 12273346 SLC6A14 solute carrier family 6 member 14 gene DOID:9002802 Acidoses ISO RGD:1561810 D RGD:9068941 20200609 RGD mRNA:increased expression:jejunum PMID:15300171|REF_RGD_ID:1625278 12273346 SLC6A14 solute carrier family 6 member 14 gene DOID:9005474 Experimental Sarcoma ISO RGD:1561810 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brush border epithelial cell PMID:17006743|REF_RGD_ID:1625275 12273346 SLC6A14 solute carrier family 6 member 14 gene DOID:9970 obesity susceptibility ISO RGD:1347984 D RGD:9068941 20200609 RGD DNA:SNPs PMID:15331564|REF_RGD_ID:1625271 12273364 L1CAM L1 cell adhesion molecule gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1352608 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12273364 L1CAM L1 cell adhesion molecule gene DOID:0050476 Barth syndrome ISO RGD:1352608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12273364 L1CAM L1 cell adhesion molecule gene DOID:0050753 cerebellar ataxia ISO RGD:1352608 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 12273364 L1CAM L1 cell adhesion molecule gene DOID:0050771 pheochromocytoma ISO RGD:1352608 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:adrenal medulla: PMID:20937862|REF_RGD_ID:11570409 12273364 L1CAM L1 cell adhesion molecule gene DOID:0050800 creatine transporter deficiency ISO RGD:1352608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 12273364 L1CAM L1 cell adhesion molecule gene DOID:0060046 aphasia ISO RGD:1352608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7920660 12273364 L1CAM L1 cell adhesion molecule gene DOID:0060246 MASA syndrome ISO RGD:1352608 D RGD:7240710 20180130 OMIM 12273364 L1CAM L1 cell adhesion molecule gene DOID:0060246 MASA syndrome ISO RGD:1352608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: L1 syndrome | ClinVar Annotator: match by term: MASA syndrome | ClinVar Annotator: match by term: X-linked hydrocephalus syndrome PMID:10469653|PMID:10767310|PMID:10797421|PMID:10908608|PMID:11438988|PMID:11772994|PMID:11857550|PMID:12442287|PMID:12725590|PMID:1303258|PMID:13889294|PMID:15108295|PMID:15148591|PMID:15555929|PMID:16199547|PMID:16650080|PMID:17576681|PMID:18136715|PMID:1870106|PMID:19617634|PMID:19641926|PMID:19846429|PMID:19953645|PMID:20447653|PMID:20621658|PMID:21271669|PMID:21688291|PMID:22973895|PMID:23820807|PMID:24155914|PMID:25644381|PMID:25666757|PMID:25741868|PMID:26467025|PMID:26891472|PMID:28492532|PMID:30249681|PMID:30712878|PMID:31069529|PMID:31319225|PMID:31474318|PMID:31504653|PMID:31680349|PMID:32416898|PMID:32488064|PMID:3460961|PMID:7493978|PMID:7562969|PMID:7762552|PMID:7881431|PMID:7920659|PMID:7920660|PMID:8062435|PMID:8401576|PMID:8401593|PMID:8826452|PMID:8929944|PMID:9195224|PMID:9279760|PMID:9300653|PMID:9521424|PMID:9536098|PMID:9610803|PMID:9643285|PMID:9744477 12273364 L1CAM L1 cell adhesion molecule gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 12273364 L1CAM L1 cell adhesion molecule gene DOID:0070338 cerebellar hypoplasia ISO RGD:1352608 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:16650080|PMID:25741868|PMID:31474318|PMID:7562969|PMID:8929944 12273364 L1CAM L1 cell adhesion molecule gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1352608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 12273364 L1CAM L1 cell adhesion molecule gene DOID:0112003 immunodeficiency 33 ISO RGD:1352608 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12273364 L1CAM L1 cell adhesion molecule gene DOID:10487 Hirschsprung's disease ISO RGD:1352608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon PMID:28492532 12273364 L1CAM L1 cell adhesion molecule gene DOID:10588 adrenoleukodystrophy ISO RGD:1352608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12273364 L1CAM L1 cell adhesion molecule gene DOID:1059 intellectual disability ISO RGD:1352608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12273364 L1CAM L1 cell adhesion molecule gene DOID:10652 Alzheimer's disease ISO RGD:1352608 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:16298234|REF_RGD_ID:6483456 12273364 L1CAM L1 cell adhesion molecule gene DOID:10908 hydrocephalus ISO RGD:1352608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe hydrocephalus | ClinVar Annotator: match by term: X-linked hydrocephalus PMID:16650080|PMID:19846429|PMID:25741868|PMID:28492532|PMID:31069529|PMID:31474318|PMID:31680349|PMID:7562969|PMID:7881431|PMID:8929944|PMID:9300653 12273364 L1CAM L1 cell adhesion molecule gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1352608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12273364 L1CAM L1 cell adhesion molecule gene DOID:12849 autistic disorder ISO RGD:1352608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12273364 L1CAM L1 cell adhesion molecule gene DOID:12858 Huntington's disease ISO RGD:10850 D RGD:9068941 20200609 RGD PMID:17093074|REF_RGD_ID:6483035 12273364 L1CAM L1 cell adhesion molecule gene DOID:13628 favism ISO RGD:1352608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12273364 L1CAM L1 cell adhesion molecule gene DOID:14330 Parkinson's disease ISO RGD:10850 D RGD:9068941 20200609 RGD PMID:19995872|REF_RGD_ID:6483033 12273364 L1CAM L1 cell adhesion molecule gene DOID:1459 hypothyroidism ISO RGD:619777 D RGD:9068941 20200609 RGD mRNA,protein:increased expression: cerebral cortex: PMID:11085884|REF_RGD_ID:11570514 12273364 L1CAM L1 cell adhesion molecule gene DOID:1596 depressive disorder ISO RGD:619777 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus (rat) PMID:20018220|REF_RGD_ID:6483073 12273364 L1CAM L1 cell adhesion molecule gene DOID:1793 pancreatic cancer treatment ISO RGD:1352608 D RGD:9068941 20200609 RGD PMID:22095073|REF_RGD_ID:11570404 12273364 L1CAM L1 cell adhesion molecule gene DOID:2030 anxiety disorder ISO RGD:619777 D RGD:9068941 20200609 RGD protein:increased expression: brain, multiple (rat) PMID:19746433|REF_RGD_ID:6483075 12273364 L1CAM L1 cell adhesion molecule gene DOID:2476 hereditary spastic paraplegia ISO RGD:1352608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:10797421|PMID:11438988|PMID:11772994|PMID:16760466|PMID:18414213|PMID:19846429|PMID:22222883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30487145|PMID:9195224|PMID:9268105 12273364 L1CAM L1 cell adhesion molecule gene DOID:2729 dyskeratosis congenita ISO RGD:1352608 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12273364 L1CAM L1 cell adhesion molecule gene DOID:3068 glioblastoma ISO RGD:1352608 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain, temporal lobe (human) PMID:20419098|REF_RGD_ID:6483067 12273364 L1CAM L1 cell adhesion molecule gene DOID:3312 bipolar disorder ISO RGD:1352608 D RGD:9068941 20200609 RGD associated with Depressive Disorder; mRNA:increased expression:blood (human) PMID:18430502|REF_RGD_ID:6483084 12273364 L1CAM L1 cell adhesion molecule gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:1352608 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:20162456|REF_RGD_ID:6483447 12273364 L1CAM L1 cell adhesion molecule gene DOID:363 uterine cancer severity ISO RGD:1352608 D RGD:9068941 20200609 RGD protein:increased expression:uterus, serum (human) PMID:13678974|REF_RGD_ID:6483445 12273364 L1CAM L1 cell adhesion molecule gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1352608 D RGD:9068941 20200609 RGD PMID:22307136|REF_RGD_ID:11570503 12273364 L1CAM L1 cell adhesion molecule gene DOID:4001 ovarian carcinoma ISO RGD:1352608 D RGD:9068941 20200609 RGD human cells, mouse model PMID:16424028|REF_RGD_ID:6483449 12273364 L1CAM L1 cell adhesion molecule gene DOID:4001 ovarian carcinoma severity ISO RGD:1352608 D RGD:9068941 20200609 RGD protein:increased expression:ovary, serum (human) PMID:13678974|REF_RGD_ID:6483445 12273364 L1CAM L1 cell adhesion molecule gene DOID:4450 renal cell carcinoma ISO RGD:1352608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21097529 12273364 L1CAM L1 cell adhesion molecule gene DOID:5419 schizophrenia susceptibility ISO RGD:1352608 D RGD:9068941 20200609 RGD associated with male;DNA:mutation:intron:13504 C > T(human) PMID:11425011|REF_RGD_ID:11570408 12273364 L1CAM L1 cell adhesion molecule gene DOID:607 paraplegia ISO RGD:1352608 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10469653|PMID:10480214|PMID:10632110|PMID:10767310|PMID:10797421|PMID:11438988|PMID:11748843|PMID:11772994|PMID:11968085|PMID:12442287|PMID:12514225|PMID:12725590|PMID:15108295|PMID:15148591|PMID:15555929|PMID:15904436|PMID:16199547|PMID:16427346|PMID:16601897|PMID:16684786|PMID:16760466|PMID:17576681|PMID:18414213|PMID:19396829|PMID:19617634|PMID:19641926|PMID:19846429|PMID:19953645|PMID:20447653|PMID:20730588|PMID:21688291|PMID:22222883|PMID:22281021|PMID:22382802|PMID:22973895|PMID:23184456|PMID:23409742|PMID:23660394|PMID:23820807|PMID:24155914|PMID:24365856|PMID:24962355|PMID:25666757|PMID:25741868|PMID:25948108|PMID:26467025|PMID:26471271|PMID:26891472|PMID:28492532|PMID:28781826|PMID:29334594|PMID:29706646|PMID:29960101|PMID:30365056|PMID:30487145|PMID:30712878|PMID:31504653|PMID:32416898|PMID:33196764|PMID:7562969|PMID:7762552|PMID:7920659|PMID:8062435|PMID:8069317|PMID:8401576|PMID:8826452|PMID:9195224|PMID:9268105|PMID:9300653|PMID:9384614|PMID:9521424|PMID:9536098|PMID:9610803|PMID:9744477 12273364 L1CAM L1 cell adhesion molecule gene DOID:630 genetic disease ISO RGD:1352608 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10469653|PMID:10797421|PMID:10908608|PMID:11438988|PMID:11772994|PMID:13889294|PMID:15555929|PMID:16760466|PMID:17328266|PMID:18136715|PMID:18414213|PMID:19617634|PMID:19846429|PMID:20621658|PMID:21688291|PMID:22222883|PMID:22973895|PMID:24155914|PMID:25666757|PMID:25741868|PMID:26467025|PMID:26891472|PMID:28492532|PMID:30487145|PMID:31680349|PMID:32416898|PMID:7762552|PMID:7881431|PMID:7920659|PMID:9195224|PMID:9268105|PMID:9300653|PMID:9721721 12273364 L1CAM L1 cell adhesion molecule gene DOID:9000115 Posthemorrhagic Hydrocephalus ISO RGD:1352608 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:22186713|REF_RGD_ID:6483013 12273364 L1CAM L1 cell adhesion molecule gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1352608 D RGD:9068941 20200609 RGD associated with Lung Neoplasms; PMID:22307136|REF_RGD_ID:11570503 12273364 L1CAM L1 cell adhesion molecule gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1352608 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms; PMID:22095073|REF_RGD_ID:11570404 12273364 L1CAM L1 cell adhesion molecule gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:10850 D RGD:9068941 20200609 RGD PMID:21376041|REF_RGD_ID:6483044 12273364 L1CAM L1 cell adhesion molecule gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:619777 D RGD:9068941 20200609 RGD PMID:17640175|REF_RGD_ID:6483092 12273364 L1CAM L1 cell adhesion molecule gene DOID:9001553 Spinal Cord Compression ISO RGD:10850 D RGD:9068941 20200609 RGD PMID:21671795|REF_RGD_ID:6483029 12273364 L1CAM L1 cell adhesion molecule gene DOID:9002720 Splenomegaly ISO RGD:1352608 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12273364 L1CAM L1 cell adhesion molecule gene DOID:9004795 Congenital Hand Deformities ISO RGD:1352608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7920660 12273364 L1CAM L1 cell adhesion molecule gene DOID:9005824 X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction ISO RGD:1352608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction PMID:12650797|PMID:15368500 12273364 L1CAM L1 cell adhesion molecule gene DOID:9006167 Partial Agenesis of Corpus Callosum, X-Linked ISO RGD:1352608 D RGD:7240710 20180130 OMIM 12273364 L1CAM L1 cell adhesion molecule gene DOID:9006167 Partial Agenesis of Corpus Callosum, X-Linked ISO RGD:1352608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Corpus callosum, partial agenesis of, X-linked PMID:10469653|PMID:11772994|PMID:15368500|PMID:15555929|PMID:16650080|PMID:19617634|PMID:19846429|PMID:22973895|PMID:24155914|PMID:25666757|PMID:25741868|PMID:28492532|PMID:29706646|PMID:31069529|PMID:31474318|PMID:7562969|PMID:7762552|PMID:7920659|PMID:8929944|PMID:9300653 12273364 L1CAM L1 cell adhesion molecule gene DOID:9006230 Neurologic Gait Disorders ISO RGD:1352608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7920660 12273364 L1CAM L1 cell adhesion molecule gene DOID:9006382 X-Linked Hydrocephalus ISO RGD:1352608 D RGD:7240710 20180130 OMIM 12273364 L1CAM L1 cell adhesion molecule gene DOID:9006382 X-Linked Hydrocephalus ISO RGD:1352608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aqueductal stenosis, X-linked | ClinVar Annotator: match by term: HYDROCEPHALUS, CONGENITAL, X-LINKED | ClinVar Annotator: match by term: Hydrocephalus due to aqueductal stenosis PMID:10469653|PMID:10767310|PMID:11772994|PMID:16650080|PMID:18414213|PMID:19846429|PMID:25741868|PMID:28492532|PMID:31069529|PMID:31474318|PMID:31504653|PMID:32416898|PMID:7562969|PMID:7920659|PMID:8929944 12273364 L1CAM L1 cell adhesion molecule gene DOID:9008086 Developmental Disabilities ISO RGD:1352608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12273364 L1CAM L1 cell adhesion molecule gene DOID:9008732 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 ISO RGD:1352608 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23 PMID:25741868 12273364 L1CAM L1 cell adhesion molecule gene DOID:9256 colorectal cancer severity ISO RGD:1352608 D RGD:9068941 20200609 RGD protein:increased expression:colon (human) PMID:17873897|REF_RGD_ID:6483011 12273402 MMP23 matrix metallopeptidase 23 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1344169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12273402 MMP23 matrix metallopeptidase 23 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1344169 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12273402 MMP23 matrix metallopeptidase 23 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1344169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12273402 MMP23 matrix metallopeptidase 23 gene DOID:0080600 COVID-19 ISO RGD:1344169 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12273402 MMP23 matrix metallopeptidase 23 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1344169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12273402 MMP23 matrix metallopeptidase 23 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1344169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12273402 MMP23 matrix metallopeptidase 23 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1344169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12273402 MMP23 matrix metallopeptidase 23 gene DOID:0111934 immunodeficiency 38 ISO RGD:1344169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12273402 MMP23 matrix metallopeptidase 23 gene DOID:0111935 immunodeficiency 16 ISO RGD:1344169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12273402 MMP23 matrix metallopeptidase 23 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12273402 MMP23 matrix metallopeptidase 23 gene DOID:630 genetic disease ISO RGD:1344169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273402 MMP23 matrix metallopeptidase 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12273402 MMP23 matrix metallopeptidase 23 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1344169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12273402 MMP23 matrix metallopeptidase 23 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1344169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12273416 AIRIM AFG2 interacting ribosome maturation factor gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12273416 AIRIM AFG2 interacting ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1606277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273424 LIPG lipase G, endothelial type gene DOID:1059 intellectual disability ISO RGD:1321819 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12273424 LIPG lipase G, endothelial type gene DOID:10763 hypertension ISO RGD:1310740 D RGD:9068941 20200609 RGD PMID:15914124|REF_RGD_ID:1581875 12273424 LIPG lipase G, endothelial type gene DOID:1287 cardiovascular system disease ISO RGD:1321819 D RGD:9068941 20200609 RGD PMID:16023652|REF_RGD_ID:1580864 12273424 LIPG lipase G, endothelial type gene DOID:2349 arteriosclerosis ISO RGD:1321820 D RGD:9068941 20200609 RGD PMID:15304490|REF_RGD_ID:1581874 12273424 LIPG lipase G, endothelial type gene DOID:3393 coronary artery disease ISO RGD:1321819 D RGD:9068941 20200609 RGD PMID:16354105|REF_RGD_ID:1580865 12273424 LIPG lipase G, endothelial type gene DOID:3526 cerebral infarction susceptibility ISO RGD:1321819 D RGD:9068941 20200609 RGD DNA:polymorphism: :584C>T (human) PMID:17016617|REF_RGD_ID:1601237 12273424 LIPG lipase G, endothelial type gene DOID:5844 myocardial infarction susceptibility ISO RGD:1321819 D RGD:9068941 20200609 RGD DNA:polymorphism: :584C>T (human) PMID:17526978|REF_RGD_ID:1641818 12273424 LIPG lipase G, endothelial type gene DOID:630 genetic disease ISO RGD:1321819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273424 LIPG lipase G, endothelial type gene DOID:9006646 Metabolic Syndrome ISO RGD:1321819 D RGD:9068941 20200609 RGD PMID:16354105|REF_RGD_ID:1580865 12273424 LIPG lipase G, endothelial type gene DOID:9970 obesity ISO RGD:1321819 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16772345|REF_RGD_ID:1641819 12273438 RPS27L ribosomal protein S27 like gene DOID:0110935 nemaline myopathy 6 ISO RGD:1344574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12273438 RPS27L ribosomal protein S27 like gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1344574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12273438 RPS27L ribosomal protein S27 like gene DOID:2717 Bloom syndrome ISO RGD:1344574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12273438 RPS27L ribosomal protein S27 like gene DOID:630 genetic disease ISO RGD:1344574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273438 RPS27L ribosomal protein S27 like gene DOID:9256 colorectal cancer ISO RGD:1344574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12273446 OR10R3C olfactory receptor family 10 subfamily R member 3C gene DOID:1540 parathyroid carcinoma ISO RGD:1354093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12273446 OR10R3C olfactory receptor family 10 subfamily R member 3C gene DOID:630 genetic disease ISO RGD:1354093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273446 OR10R3C olfactory receptor family 10 subfamily R member 3C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12273451 KIAA1191 KIAA1191 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1601743 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12273451 KIAA1191 KIAA1191 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1601743 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12273451 KIAA1191 KIAA1191 gene DOID:630 genetic disease ISO RGD:1601743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273469 PTRH2 peptidyl-tRNA hydrolase 2 gene DOID:0050753 cerebellar ataxia ISO RGD:1602115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25558065|PMID:25741868|PMID:27129381|PMID:28328138 12273469 PTRH2 peptidyl-tRNA hydrolase 2 gene DOID:0050777 Joubert syndrome ISO RGD:1602115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12273469 PTRH2 peptidyl-tRNA hydrolase 2 gene DOID:0080226 autosomal dominant intellectual developmental disorder 56 ISO RGD:1602115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 PMID:25741868 12273469 PTRH2 peptidyl-tRNA hydrolase 2 gene DOID:630 genetic disease ISO RGD:1602115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273469 PTRH2 peptidyl-tRNA hydrolase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1602115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12273469 PTRH2 peptidyl-tRNA hydrolase 2 gene DOID:9005516 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1 ISO RGD:1602115 D RGD:7240710 20180130 OMIM 12273469 PTRH2 peptidyl-tRNA hydrolase 2 gene DOID:9005516 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1 ISO RGD:1602115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 PMID:25558065|PMID:25741868|PMID:27129381|PMID:28328138|PMID:31057140|PMID:33092935 12273496 PRDX4 peroxiredoxin 4 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:731497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 12273496 PRDX4 peroxiredoxin 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12273496 PRDX4 peroxiredoxin 4 gene DOID:10603 glucose intolerance ISO RGD:731497 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20446767 12273496 PRDX4 peroxiredoxin 4 gene DOID:12849 autistic disorder ISO RGD:731497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12273496 PRDX4 peroxiredoxin 4 gene DOID:3042 allergic contact dermatitis ISO RGD:731497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 12273496 PRDX4 peroxiredoxin 4 gene DOID:4195 hyperglycemia ISO RGD:731497 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20446767 12273496 PRDX4 peroxiredoxin 4 gene DOID:630 genetic disease ISO RGD:731497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273496 PRDX4 peroxiredoxin 4 gene DOID:9000918 Disease Progression ISO RGD:731497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 12273496 PRDX4 peroxiredoxin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12273521 MIR323 microRNA mir-323 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1348331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 12273521 MIR323 microRNA mir-323 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1348331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12273521 MIR323 microRNA mir-323 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1608213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12273521 MIR323 microRNA mir-323 gene DOID:9002170 Experimental Neoplasms ISO RGD:1608213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12273605 HMGN2 high mobility group nucleosomal binding domain 2 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:1550392 D RGD:9068941 20220825 MouseDO OMIM:180500 12273605 HMGN2 high mobility group nucleosomal binding domain 2 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1350424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12273615 UBR3 ubiquitin protein ligase E3 component n-recognin 3 gene DOID:630 genetic disease ISO RGD:1346219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273664 PDPR pyruvate dehydrogenase phosphatase regulatory subunit gene DOID:0050777 Joubert syndrome ISO RGD:1602881 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25558065|PMID:27894351 12273664 PDPR pyruvate dehydrogenase phosphatase regulatory subunit gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1602881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12273664 PDPR pyruvate dehydrogenase phosphatase regulatory subunit gene DOID:630 genetic disease ISO RGD:1602881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273685 CHML CHM like Rab escort protein gene DOID:0111261 fumarase deficiency ISO RGD:1313260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12761039|PMID:21398687|PMID:22069215|PMID:28300276|PMID:28492532 12273685 CHML CHM like Rab escort protein gene DOID:1540 parathyroid carcinoma ISO RGD:1313260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12273685 CHML CHM like Rab escort protein gene DOID:2841 asthma ISO RGD:1313260 D RGD:9068941 20211217 RGD PMID:18343558|REF_RGD_ID:5133238 12273685 CHML CHM like Rab escort protein gene DOID:630 genetic disease ISO RGD:1313260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273685 CHML CHM like Rab escort protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12273685 CHML CHM like Rab escort protein gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1313260 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 12273685 CHML CHM like Rab escort protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12273731 SLC5A5 solute carrier family 5 member 5 gene DOID:0050328 congenital hypothyroidism ISO RGD:731751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:10487695|PMID:3998954 12273731 SLC5A5 solute carrier family 5 member 5 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:731751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:28492532 12273731 SLC5A5 solute carrier family 5 member 5 gene DOID:0112183 familial thyroid dyshormonogenesis ISO RGD:731751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid Hormonogenesis Defect 12273731 SLC5A5 solute carrier family 5 member 5 gene DOID:0112185 thyroid dyshormonogenesis 1 ISO RGD:731751 D RGD:7240710 20180130 OMIM 12273731 SLC5A5 solute carrier family 5 member 5 gene DOID:0112185 thyroid dyshormonogenesis 1 ISO RGD:731751 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1 | ClinVar Annotator: match by term: IODINE ACCUMULATION, TRANSPORT, OR TRAPPING DEFECT | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1 PMID:10487695|PMID:10902780|PMID:12161518|PMID:21565787|PMID:25525159|PMID:25741868|PMID:28492532|PMID:32805706|PMID:3451231|PMID:3998954|PMID:9171822|PMID:9388506|PMID:9398697|PMID:9486973|PMID:9657379|PMID:9709973|PMID:9745458|PMID:9814502 12273731 SLC5A5 solute carrier family 5 member 5 gene DOID:13938 amenorrhea ISO RGD:731751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12273731 SLC5A5 solute carrier family 5 member 5 gene DOID:14566 disease of cellular proliferation ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15522214 12273731 SLC5A5 solute carrier family 5 member 5 gene DOID:1909 melanoma ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12489024 12273731 SLC5A5 solute carrier family 5 member 5 gene DOID:3070 high grade glioma ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12489024 12273731 SLC5A5 solute carrier family 5 member 5 gene DOID:4947 cholangiocarcinoma ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17408651 12273731 SLC5A5 solute carrier family 5 member 5 gene DOID:630 genetic disease ISO RGD:731751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273731 SLC5A5 solute carrier family 5 member 5 gene DOID:684 hepatocellular carcinoma ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15347726|PMID:15520214 12273731 SLC5A5 solute carrier family 5 member 5 gene DOID:9002265 Kidney Neoplasms ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12489024 12273731 SLC5A5 solute carrier family 5 member 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12489024|PMID:14633711 12273731 SLC5A5 solute carrier family 5 member 5 gene DOID:9002762 Ovarian Neoplasms ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12489024 12273731 SLC5A5 solute carrier family 5 member 5 gene DOID:9003214 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative ISO RGD:731751 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type PMID:28492532 12273731 SLC5A5 solute carrier family 5 member 5 gene DOID:9004547 Thyroid Neoplasms ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16954431|PMID:17045167 12273731 SLC5A5 solute carrier family 5 member 5 gene DOID:9008939 Breast Neoplasms ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12489024 12273731 SLC5A5 solute carrier family 5 member 5 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:731751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12273754 CALCOCO1 calcium binding and coiled-coil domain 1 gene DOID:630 genetic disease ISO RGD:731717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273754 CALCOCO1 calcium binding and coiled-coil domain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12273776 NDST3 N-deacetylase and N-sulfotransferase 3 gene DOID:630 genetic disease ISO RGD:1322156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273776 NDST3 N-deacetylase and N-sulfotransferase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12273798 PCOLCE procollagen C-endopeptidase enhancer gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12273798 PCOLCE procollagen C-endopeptidase enhancer gene DOID:5082 liver cirrhosis ISO RGD:733466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 12273798 PCOLCE procollagen C-endopeptidase enhancer gene DOID:630 genetic disease ISO RGD:733466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273798 PCOLCE procollagen C-endopeptidase enhancer gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12273811 TTC6 tetratricopeptide repeat domain 6 gene DOID:0050778 Meckel syndrome ISO RGD:1323287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 12273811 TTC6 tetratricopeptide repeat domain 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1323287 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12273849 HYAL1 hyaluronidase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1352194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12273849 HYAL1 hyaluronidase 1 gene DOID:0050809 mucopolysaccharidosis IX ISO RGD:1352194 D RGD:7240710 20180130 OMIM 12273849 HYAL1 hyaluronidase 1 gene DOID:0050809 mucopolysaccharidosis IX ISO RGD:1352194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of hyaluronoglucosaminidase PMID:10339581|PMID:16199547|PMID:17576681|PMID:21559944|PMID:25741868|PMID:27424109|PMID:28492532|PMID:33942374|PMID:8793927|PMID:9536098 12273849 HYAL1 hyaluronidase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1352194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12273849 HYAL1 hyaluronidase 1 gene DOID:12798 mucopolysaccharidosis ISO RGD:1352194 D RGD:9068941 20200609 RGD mucopolysaccharidosis IX, OMIM:601492 DNA:point_mutation,rearrangement:CDS:compound heterozygote G1412A -> amino acid E268K, 1361del37ins14 PMID:10339581|REF_RGD_ID:1599811 12273849 HYAL1 hyaluronidase 1 gene DOID:630 genetic disease ISO RGD:1352194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12273849 HYAL1 hyaluronidase 1 gene DOID:6432 pulmonary hypertension ISO RGD:1303060 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:19915162|REF_RGD_ID:9588633 12273849 HYAL1 hyaluronidase 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1352194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12273849 HYAL1 hyaluronidase 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1303060 D RGD:9068941 20200609 RGD PMID:22529164|REF_RGD_ID:9588636 12273849 HYAL1 hyaluronidase 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12273860 TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A gene DOID:0050439 Usher syndrome ISO RGD:1313879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 12273860 TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1313879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12273860 TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A gene DOID:12930 dilated cardiomyopathy ISO RGD:1313879 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 12273860 TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A gene DOID:1540 parathyroid carcinoma ISO RGD:1313879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12273860 TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A gene DOID:630 genetic disease ISO RGD:1313879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273860 TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A gene DOID:9000303 Familial Restrictive Cardiomyopathy 6 ISO RGD:1313879 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 6 PMID:25741868 12273860 TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12273886 GUCA1A guanylate cyclase activator 1A gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:1318644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy 3 12273886 GUCA1A guanylate cyclase activator 1A gene DOID:9002525 Hereditary Eye Diseases ISO RGD:1318644 D RGD:9068941 20200609 RGD autosomal dominant cone dystrophy 3, OMIM:602093 DNA:point mutation:exon:A319G -> amino acid Y99C PMID:9425234|REF_RGD_ID:1599353 12273896 FXYD5 FXYD domain containing ion transport regulator 5 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1605677 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12273896 FXYD5 FXYD domain containing ion transport regulator 5 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12273896 FXYD5 FXYD domain containing ion transport regulator 5 gene DOID:543 dystonia ISO RGD:1605677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12273896 FXYD5 FXYD domain containing ion transport regulator 5 gene DOID:630 genetic disease ISO RGD:1605677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273896 FXYD5 FXYD domain containing ion transport regulator 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12273909 LOC100688087 zinc finger protein 75A-like gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1346975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12273909 LOC100688087 zinc finger protein 75A-like gene DOID:1826 epilepsy ISO RGD:1346975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12273909 LOC100688087 zinc finger protein 75A-like gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1346975 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12273909 LOC100688087 zinc finger protein 75A-like gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1346975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12273909 LOC100688087 zinc finger protein 75A-like gene DOID:630 genetic disease ISO RGD:1346975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273912 MYOT myotilin gene DOID:0050700 cardiomyopathy ISO RGD:1321551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 12273912 MYOT myotilin gene DOID:0060224 atrial fibrillation ISO RGD:1321551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12273912 MYOT myotilin gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1321551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12273912 MYOT myotilin gene DOID:0080091 spheroid body myopathy ISO RGD:1321551 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MYOPATHY, SPHEROID BODY | ClinVar Annotator: match by term: Spheroid body myopathy PMID:12428213|PMID:15111675|PMID:15947064|PMID:16684602|PMID:16793270|PMID:17784878|PMID:17931355|PMID:18653338|PMID:19225410|PMID:19240791|PMID:19590214|PMID:21361873|PMID:21676617|PMID:22021208|PMID:22349301|PMID:25208129|PMID:25741868|PMID:26257771|PMID:26342832|PMID:26467025|PMID:26842778|PMID:27618136|PMID:27854214|PMID:28492532|PMID:30055862|PMID:31404076|PMID:31407473|PMID:32041727|PMID:32419263|PMID:9027924 12273912 MYOT myotilin gene DOID:0080094 myofibrillar myopathy 3 ISO RGD:1321551 D RGD:7240710 20180130 OMIM 12273912 MYOT myotilin gene DOID:0080094 myofibrillar myopathy 3 ISO RGD:1321551 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 3 | ClinVar Annotator: match by term: Urinary bladder sphincter dysfunction PMID:10958653|PMID:12428213|PMID:15111675|PMID:15947064|PMID:1598902|PMID:16199547|PMID:16380616|PMID:16684602|PMID:16793270|PMID:16801328|PMID:17221859|PMID:17576681|PMID:17784878|PMID:17931355|PMID:18335471|PMID:18414213|PMID:18653338|PMID:19225410|PMID:19240791|PMID:19590214|PMID:20301672|PMID:20981092|PMID:21336781|PMID:21361873|PMID:21676617|PMID:22021208|PMID:22106715|PMID:22349301|PMID:22995991|PMID:24033266|PMID:24781192|PMID:25208129|PMID:25617006|PMID:25741868|PMID:26257771|PMID:26342832|PMID:26467025|PMID:26842778|PMID:27618136|PMID:27854214|PMID:27884173|PMID:28403181|PMID:28492532|PMID:30055862|PMID:31404076|PMID:31407473|PMID:32041727|PMID:32419263|PMID:32528171|PMID:3275904|PMID:571956|PMID:9027924|PMID:9536098 12273912 MYOT myotilin gene DOID:0080307 myofibrillar myopathy ISO RGD:1321551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy PMID:15111675|PMID:15947064|PMID:16684602|PMID:16793270|PMID:17784878|PMID:17931355|PMID:19225410|PMID:19590214|PMID:21361873|PMID:21676617|PMID:22021208|PMID:22349301|PMID:25741868|PMID:26467025|PMID:26842778|PMID:27618136|PMID:28492532|PMID:32041727 12273912 MYOT myotilin gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321551 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12273912 MYOT myotilin gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1321551 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12273912 MYOT myotilin gene DOID:10283 prostate cancer ISO RGD:1321551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12273912 MYOT myotilin gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1321551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant PMID:25741868|PMID:26467025|PMID:28492532 12273912 MYOT myotilin gene DOID:574 peripheral nervous system disease ISO RGD:1321551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15111675 12273912 MYOT myotilin gene DOID:6000 congestive heart failure ISO RGD:1321551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart failure PMID:19240791|PMID:25741868|PMID:26257771|PMID:26467025|PMID:28492532|PMID:31404076 12273912 MYOT myotilin gene DOID:630 genetic disease ISO RGD:1321551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12273912 MYOT myotilin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12273912 MYOT myotilin gene DOID:9005532 Muscle Weakness ISO RGD:1321551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness 12273912 MYOT myotilin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12273912 MYOT myotilin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321551 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12273912 MYOT myotilin gene DOID:9884 muscular dystrophy ISO RGD:1321551 D RGD:9068941 20200609 RGD Limb-Girdle Muscular Dystrophy LGMD1A, OMIM:159000 PMID:10958653|REF_RGD_ID:1599673 12273931 HSBP1 heat shock factor binding protein 1 gene DOID:630 genetic disease ISO RGD:736685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273972 CTSC cathepsin C gene DOID:1059 intellectual disability ISO RGD:736291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12273972 CTSC cathepsin C gene DOID:10763 hypertension ISO RGD:2445 D RGD:9068941 20200609 RGD PMID:657443|REF_RGD_ID:1599651 12273972 CTSC cathepsin C gene DOID:1474 aggressive periodontitis ISO RGD:736291 D RGD:7240710 20180130 OMIM 12273972 CTSC cathepsin C gene DOID:1474 aggressive periodontitis ISO RGD:736291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aggressive Periodontitis | ClinVar Annotator: match by term: Periodontitis, aggressive 1 PMID:10581027|PMID:10662808|PMID:11180012|PMID:14974080|PMID:15585850|PMID:18723326|PMID:19816003|PMID:23311634|PMID:24033266|PMID:24936511|PMID:25741868|PMID:28317349|PMID:28492532 12273972 CTSC cathepsin C gene DOID:2316 brain ischemia ISO RGD:2445 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:12843783|REF_RGD_ID:1599640 12273972 CTSC cathepsin C gene DOID:3042 allergic contact dermatitis ISO RGD:736291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 12273972 CTSC cathepsin C gene DOID:3388 periodontal disease ISO RGD:736291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10662807 12273972 CTSC cathepsin C gene DOID:3389 Papillon-Lefevre disease ISO RGD:736291 D RGD:7240710 20180130 OMIM 12273972 CTSC cathepsin C gene DOID:3389 Papillon-Lefevre disease ISO RGD:736291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Papillon-Lefevre Disease | ClinVar Annotator: match by term: Papillon-Lefèvre syndrome PMID:10581027|PMID:10593994|PMID:10662808|PMID:11106356|PMID:11180012|PMID:11180601|PMID:11886537|PMID:12112662|PMID:14974080|PMID:15585850|PMID:18723326|PMID:18809751|PMID:19816003|PMID:23108224|PMID:23311634|PMID:24033266|PMID:24936511|PMID:25741868|PMID:28242153|PMID:28317349|PMID:28492532|PMID:29410039|PMID:33586345 12273972 CTSC cathepsin C gene DOID:5419 schizophrenia ISO RGD:10421 D RGD:9068941 20220825 MouseDO OMIM:181500 12273972 CTSC cathepsin C gene DOID:630 genetic disease ISO RGD:736291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12273972 CTSC cathepsin C gene DOID:9000217 Stomach Neoplasms ISO RGD:736291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12273972 CTSC cathepsin C gene DOID:9000918 Disease Progression ISO RGD:736291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12273972 CTSC cathepsin C gene DOID:9001957 Keratosis Palmoplantaris with Periodontopathia and Onychogryposis ISO RGD:736291 D RGD:7240710 20180130 OMIM 12273972 CTSC cathepsin C gene DOID:9001957 Keratosis Palmoplantaris with Periodontopathia and Onychogryposis ISO RGD:736291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Haim-Munk syndrome PMID:10581027|PMID:10593994|PMID:10662807|PMID:10662808|PMID:11106356|PMID:11180012|PMID:11180601|PMID:11886537|PMID:11922261|PMID:12112662|PMID:14974080|PMID:15111626|PMID:15585850|PMID:15606524|PMID:15727652|PMID:16199547|PMID:17576681|PMID:17943190|PMID:18723326|PMID:18809751|PMID:1886537|PMID:19816003|PMID:23108224|PMID:23311634|PMID:23397598|PMID:24033266|PMID:24936511|PMID:25741868|PMID:26205983|PMID:26957212|PMID:27062382|PMID:28242153|PMID:28317349|PMID:28492532|PMID:29410039|PMID:29925593|PMID:30548430|PMID:30854815|PMID:31282082|PMID:31980526|PMID:34341640|PMID:9536098 12273972 CTSC cathepsin C gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2445 D RGD:9068941 20200609 RGD PMID:843913|REF_RGD_ID:1599653 12273972 CTSC cathepsin C gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2445 D RGD:9068941 20200609 RGD PMID:148980|REF_RGD_ID:1599652 12273972 CTSC cathepsin C gene DOID:9007102 Myocardial Ischemia ISO RGD:736291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12273972 CTSC cathepsin C gene DOID:9970 obesity ISO RGD:2445 D RGD:9068941 20200609 RGD PMID:3705543|REF_RGD_ID:1599645 12273981 ACTR1A actin related protein 1A gene DOID:14250 Down syndrome ISO RGD:1315973 D RGD:9068941 20200609 RGD protein:decreased expression:cortex PMID:11829462|REF_RGD_ID:13831340 12273981 ACTR1A actin related protein 1A gene DOID:219 colon cancer ISO RGD:1315973 D RGD:9068941 20200609 RGD PMID:26422100|REF_RGD_ID:13831341 12273981 ACTR1A actin related protein 1A gene DOID:630 genetic disease ISO RGD:1315973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:0050851 glomerulosclerosis ISO RGD:10126 D RGD:9068941 20200609 RGD PMID:20631980|REF_RGD_ID:6903882 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:0050851 glomerulosclerosis ISO RGD:2072 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:20042458|REF_RGD_ID:6903284 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:0050851 glomerulosclerosis ISO RGD:2072 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:12495295|REF_RGD_ID:6903859 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:0050938 breast lobular carcinoma ISO RGD:619558 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:8389152 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:619558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:0112053 non-syndromic X-linked intellectual disability 88 ISO RGD:619558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MRX88 PMID:12089445|PMID:12746399|PMID:14598163|PMID:14722754|PMID:16283672|PMID:18414213|PMID:23871722 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:1059 intellectual disability ISO RGD:619558 D RGD:9068941 20200609 RGD PMID:12089445|REF_RGD_ID:1300276 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:10763 hypertension ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:19680135|REF_RGD_ID:6903372 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:10763 hypertension ISO RGD:2072 D RGD:9068941 20200609 RGD associated with Sleep Apnea Syndromes PMID:21040717|REF_RGD_ID:5129169 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:10763 hypertension ISO RGD:2072 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:11924718|REF_RGD_ID:6903865 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:10763 hypertension ISO RGD:619558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15710752 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:11049 meconium aspiration syndrome treatment ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:14605247|REF_RGD_ID:11039054 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:12849 autistic disorder ISO RGD:619558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:2072 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:22120037|REF_RGD_ID:8549486 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:619558 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart left ventricle PMID:9815151|REF_RGD_ID:6903900 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:2072 D RGD:9068941 20200609 RGD protein:increased expression:kidney cortex PMID:21357516|REF_RGD_ID:5129175 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:1591 renovascular hypertension ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:18158356|PMID:21189405|REF_RGD_ID:6903867|REF_RGD_ID:6903868 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:1793 pancreatic cancer ISO RGD:619558 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:11916627|REF_RGD_ID:2325641 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:2841 asthma ISO RGD:2072 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:19080339|REF_RGD_ID:5147457 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:2921 glomerulonephritis ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:19139720|REF_RGD_ID:6903845 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:619558 D RGD:9068941 20200609 RGD protein:increased expression:kidney tubule PMID:15930094|REF_RGD_ID:6903851 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:619558 D RGD:9068941 20200609 RGD DNA:polymorphism: :1818A>T (human) PMID:19194560|REF_RGD_ID:6903844 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:3770 pulmonary fibrosis ISO RGD:10126 D RGD:9068941 20200609 RGD PMID:18500976|REF_RGD_ID:5147454 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:22113494|REF_RGD_ID:6903875 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:619558 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:21102591|REF_RGD_ID:6903280 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:5119 ovarian cyst ISO RGD:619558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:6000 congestive heart failure ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:18768398|REF_RGD_ID:6903846 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:6000 congestive heart failure ISO RGD:2072 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart PMID:21963897|REF_RGD_ID:8549482 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:630 genetic disease ISO RGD:619558 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12089445|PMID:12746399|PMID:14598163|PMID:14722754|PMID:16283672|PMID:18414213|PMID:23871722|PMID:28492532 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:783 end stage renal disease ISO RGD:10126 D RGD:9068941 20200609 RGD PMID:19212419|REF_RGD_ID:6903843 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:783 end stage renal disease ISO RGD:619558 D RGD:9068941 20200609 RGD associated with Vesico-Ureteral Reflux;DNA:SNP: :-1332A>G (human) PMID:20149750|REF_RGD_ID:6903283 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:784 chronic kidney disease ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:12089373|REF_RGD_ID:6903863 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:619558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18059164 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9000352 Vascular System Injuries ISO RGD:619558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16982965 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9000784 Fibrosis ISO RGD:10126 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:18327089|REF_RGD_ID:6903848 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9000784 Fibrosis ISO RGD:2072 D RGD:9068941 20200609 RGD associated with Hypertension PMID:22184331|REF_RGD_ID:6903874 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:14982483|REF_RGD_ID:6903857 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:619558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18059164 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9001611 Urogenital Abnormalities ISO RGD:619558 D RGD:9068941 20200609 RGD DNA:transition:intron PMID:16133060|REF_RGD_ID:6903850 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9001611 Urogenital Abnormalities ISO RGD:619558 D RGD:9068941 20200609 RGD DNA:transition:intron:-1332A>G (human) PMID:15470205|REF_RGD_ID:6903853 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2072 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:kidney PMID:18565281|REF_RGD_ID:6903847 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:21303825|REF_RGD_ID:5129179 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:22569153|REF_RGD_ID:6903872 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9004009 Reperfusion Injury ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:22920387|REF_RGD_ID:6903870 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:619558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20467270 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:619558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8389152 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9005372 Inflammation ISO RGD:10126 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:15153562|REF_RGD_ID:6903855 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2072 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:12172324|REF_RGD_ID:6903861 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:619558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12089445 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9005930 Endotoxemia ISO RGD:2072 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16725227|REF_RGD_ID:6903849 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:619558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15587404|PMID:16025228 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9007096 Stroke ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:19246705|REF_RGD_ID:6903905 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9007692 Insulin Resistance ISO RGD:2072 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion, neuron PMID:22357959|REF_RGD_ID:6903873 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9008782 AIDS-Associated Nephropathy ISO RGD:10126 D RGD:9068941 20200609 RGD PMID:2|REF_RGD_ID:1303381 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:10126 D RGD:9068941 20200609 RGD PMID:21900645|REF_RGD_ID:6892717 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2072 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta PMID:18463192|REF_RGD_ID:2313550 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9620 vesicoureteral reflux ISO RGD:619558 D RGD:9068941 20200609 RGD PMID:11819209|REF_RGD_ID:6903866 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9620 vesicoureteral reflux ISO RGD:619558 D RGD:9068941 20200609 RGD DNA:transition:intron:-1332A>G (human) PMID:15470205|REF_RGD_ID:6903853 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9620 vesicoureteral reflux no_association ISO RGD:619558 D RGD:9068941 20200609 RGD DNA:transition:intron:-1332A>G (human) PMID:12187255|REF_RGD_ID:6903860 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9970 obesity ISO RGD:10126 D RGD:9068941 20200609 RGD PMID:15793237|REF_RGD_ID:2313554 12273996 AGTR2 angiotensin II receptor type 2 gene DOID:9993 hypoglycemia ISO RGD:619558 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :1675G>A (human) PMID:18328310|REF_RGD_ID:2313551 12274000 RAB22A RAB22A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1323682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274009 SSR2 signal sequence receptor subunit 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1318091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12274009 SSR2 signal sequence receptor subunit 2 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1318091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 12274009 SSR2 signal sequence receptor subunit 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1318091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12274009 SSR2 signal sequence receptor subunit 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1318091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12274009 SSR2 signal sequence receptor subunit 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1318091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12274009 SSR2 signal sequence receptor subunit 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1318091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12274009 SSR2 signal sequence receptor subunit 2 gene DOID:5812 MHC class II deficiency ISO RGD:1318091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12274009 SSR2 signal sequence receptor subunit 2 gene DOID:630 genetic disease ISO RGD:1318091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274009 SSR2 signal sequence receptor subunit 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12274009 SSR2 signal sequence receptor subunit 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12274019 FLT3LG fms related receptor tyrosine kinase 3 ligand gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1353824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12274019 FLT3LG fms related receptor tyrosine kinase 3 ligand gene DOID:12449 aplastic anemia ISO RGD:1353824 D RGD:9068941 20200609 RGD protein:increased expression:serum,plasma: PMID:7492765|REF_RGD_ID:11049505 12274019 FLT3LG fms related receptor tyrosine kinase 3 ligand gene DOID:13636 Fanconi anemia ISO RGD:1353824 D RGD:9068941 20200609 RGD protein:increased expression:serum,plasma: PMID:7492765|REF_RGD_ID:11049505 12274019 FLT3LG fms related receptor tyrosine kinase 3 ligand gene DOID:1520 colon carcinoma treatment ISO RGD:1353824 D RGD:9068941 20200609 RGD PMID:10842197|REF_RGD_ID:11049504 12274019 FLT3LG fms related receptor tyrosine kinase 3 ligand gene DOID:1793 pancreatic cancer ISO RGD:2322792 D RGD:9068941 20200609 RGD PMID:16528542|REF_RGD_ID:11049499 12274019 FLT3LG fms related receptor tyrosine kinase 3 ligand gene DOID:3068 glioblastoma treatment ISO RGD:1353824 D RGD:9068941 20200609 RGD PMID:18079358|REF_RGD_ID:11049502 12274019 FLT3LG fms related receptor tyrosine kinase 3 ligand gene DOID:3070 high grade glioma treatment ISO RGD:1353824 D RGD:9068941 20200609 RGD PMID:15564139|REF_RGD_ID:11049500 12274019 FLT3LG fms related receptor tyrosine kinase 3 ligand gene DOID:4971 myelofibrosis ISO RGD:1353824 D RGD:9068941 20200609 RGD protein:increased expression:plasma, CD34+ cell, bone marrow fibroblast: PMID:21487043|REF_RGD_ID:11049484 12274019 FLT3LG fms related receptor tyrosine kinase 3 ligand gene DOID:5844 myocardial infarction treatment ISO RGD:1557069 D RGD:9068941 20200609 RGD PMID:24184252|REF_RGD_ID:11049498 12274019 FLT3LG fms related receptor tyrosine kinase 3 ligand gene DOID:630 genetic disease ISO RGD:1353824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274019 FLT3LG fms related receptor tyrosine kinase 3 ligand gene DOID:9000300 Refractory Anemia ISO RGD:1353824 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:10214861|REF_RGD_ID:11049479 12274019 FLT3LG fms related receptor tyrosine kinase 3 ligand gene DOID:9538 multiple myeloma disease_progression ISO RGD:1353824 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:26521986|REF_RGD_ID:11075232 12274045 TMT1B thiol methyltransferase 1B gene DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency ISO RGD:1603260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency PMID:28492532 12274045 TMT1B thiol methyltransferase 1B gene DOID:4001 ovarian carcinoma ISO RGD:1603260 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 12274045 TMT1B thiol methyltransferase 1B gene DOID:630 genetic disease ISO RGD:1603260 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274072 RCN1 reticulocalbin 1 gene DOID:1059 intellectual disability ISO RGD:1322672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12274072 RCN1 reticulocalbin 1 gene DOID:305 carcinoma ISO RGD:1322672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12274072 RCN1 reticulocalbin 1 gene DOID:3764 Denys-Drash syndrome ISO RGD:1322672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Drash syndrome PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28492532 12274072 RCN1 reticulocalbin 1 gene DOID:630 genetic disease ISO RGD:1322672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274072 RCN1 reticulocalbin 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1322672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12274072 RCN1 reticulocalbin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12274072 RCN1 reticulocalbin 1 gene DOID:9002455 Aniridia 1 ISO RGD:1322672 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aniridia 1 PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28492532 12274072 RCN1 reticulocalbin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1322672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12274081 IFT122 intraflagellar transport 122 gene DOID:0050572 cone-rod dystrophy ISO RGD:1349473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868|PMID:28492532 12274081 IFT122 intraflagellar transport 122 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:1349473 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia PMID:23826986|PMID:24027799|PMID:25741868|PMID:28492532 12274081 IFT122 intraflagellar transport 122 gene DOID:0080803 cranioectodermal dysplasia 1 ISO RGD:1349473 D RGD:7240710 20190327 OMIM 12274081 IFT122 intraflagellar transport 122 gene DOID:0080803 cranioectodermal dysplasia 1 ISO RGD:1349473 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 PMID:16199547|PMID:17022080|PMID:17576681|PMID:19648123|PMID:19760620|PMID:20493458|PMID:23826986|PMID:24027799|PMID:25326637|PMID:25741868|PMID:26792575|PMID:28370949|PMID:28492532|PMID:29037998|PMID:33532864|PMID:33717254|PMID:9536098 12274081 IFT122 intraflagellar transport 122 gene DOID:0111947 immunodeficiency 21 ISO RGD:1349473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12274081 IFT122 intraflagellar transport 122 gene DOID:10907 microcephaly ISO RGD:1349473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12274081 IFT122 intraflagellar transport 122 gene DOID:10908 hydrocephalus ISO RGD:1349473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20493458 12274081 IFT122 intraflagellar transport 122 gene DOID:2340 craniosynostosis ISO RGD:1349473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20493458 12274081 IFT122 intraflagellar transport 122 gene DOID:557 kidney disease ISO RGD:1349473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20493458 12274081 IFT122 intraflagellar transport 122 gene DOID:630 genetic disease ISO RGD:1349473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12274081 IFT122 intraflagellar transport 122 gene DOID:65 connective tissue disease ISO RGD:1349473 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 12274081 IFT122 intraflagellar transport 122 gene DOID:65 connective tissue disease ISO RGD:1349473 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25326637|PMID:25741868|PMID:28492532 12274081 IFT122 intraflagellar transport 122 gene DOID:9001591 Ciliary Motility Disorders ISO RGD:1349473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20493458 12274081 IFT122 intraflagellar transport 122 gene DOID:9002608 Spinal Curvatures ISO RGD:1349473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20493458 12274081 IFT122 intraflagellar transport 122 gene DOID:9002860 Cardiac Edema ISO RGD:1349473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20493458 12274081 IFT122 intraflagellar transport 122 gene DOID:9008296 Eye Abnormalities ISO RGD:1349473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20493458 12274081 IFT122 intraflagellar transport 122 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1349473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 12274081 IFT122 intraflagellar transport 122 gene DOID:9270 alkaptonuria ISO RGD:1349473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12274118 HIKESHI heat shock protein nuclear import factor hikeshi gene DOID:0060795 hypomyelinating leukodystrophy 13 ISO RGD:1604822 D RGD:7240710 20190315 OMIM 12274118 HIKESHI heat shock protein nuclear import factor hikeshi gene DOID:0060795 hypomyelinating leukodystrophy 13 ISO RGD:1604822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 13 PMID:25741868|PMID:26545878|PMID:28492532|PMID:31912665 12274118 HIKESHI heat shock protein nuclear import factor hikeshi gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1604822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 12274118 HIKESHI heat shock protein nuclear import factor hikeshi gene DOID:1059 intellectual disability ISO RGD:1604822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12274118 HIKESHI heat shock protein nuclear import factor hikeshi gene DOID:1909 melanoma ISO RGD:1604822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12274118 HIKESHI heat shock protein nuclear import factor hikeshi gene DOID:630 genetic disease ISO RGD:1604822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25760597|PMID:28492532 12274118 HIKESHI heat shock protein nuclear import factor hikeshi gene DOID:9000217 Stomach Neoplasms ISO RGD:1604822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12274118 HIKESHI heat shock protein nuclear import factor hikeshi gene DOID:9000918 Disease Progression ISO RGD:1604822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12274132 POLD3 DNA polymerase delta 3, accessory subunit gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1323795 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12274132 POLD3 DNA polymerase delta 3, accessory subunit gene DOID:1059 intellectual disability ISO RGD:1323795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12274132 POLD3 DNA polymerase delta 3, accessory subunit gene DOID:630 genetic disease ISO RGD:1323795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274132 POLD3 DNA polymerase delta 3, accessory subunit gene DOID:9008443 Colorectal Neoplasms ISO RGD:1323795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22634755|PMID:30510241 12274168 ING4 inhibitor of growth family member 4 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1319738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12274168 ING4 inhibitor of growth family member 4 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1319738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12274168 ING4 inhibitor of growth family member 4 gene DOID:0111621 Temtamy syndrome ISO RGD:1319738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12274168 ING4 inhibitor of growth family member 4 gene DOID:10283 prostate cancer ISO RGD:1319738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12274168 ING4 inhibitor of growth family member 4 gene DOID:630 genetic disease ISO RGD:1319738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274168 ING4 inhibitor of growth family member 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1319738 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27806345 12274168 ING4 inhibitor of growth family member 4 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1319738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12274168 ING4 inhibitor of growth family member 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319738 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27806345 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:0080158 herpes simplex virus keratitis susceptibility ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:17266445|REF_RGD_ID:8661706 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:0080162 lupus nephritis ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:20980973|REF_RGD_ID:6893449 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:0080745 polymyositis susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs7582694) (human) PMID:24632671|REF_RGD_ID:8661720 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:0111944 immunodeficiency 31B ISO RGD:1313964 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:22651901|PMID:28492532 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:10223 dermatomyositis ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP: :rs7574865 (human) PMID:22402141|REF_RGD_ID:8661693 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:12236 primary biliary cholangitis ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:12236 primary biliary cholangitis no_association ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNPs:3'utr: (rs7574865, rs8179673, rs10181656) (human) PMID:24648611|REF_RGD_ID:25671415 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP: intron: (rs7574865) (human) PMID:28395724|REF_RGD_ID:25671416 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:multiple PMID:24648611|REF_RGD_ID:25671415 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human) PMID:26084578|REF_RGD_ID:25671421 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:12297 Vogt-Koyanagi-Harada disease ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP: :rs7574865 (human) PMID:20438790|REF_RGD_ID:8661713 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:12361 Graves' disease ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:16195404|REF_RGD_ID:7207875 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:12894 Sjogren's syndrome ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097066|PMID:24097067 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:12894 Sjogren's syndrome no_association ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs7574865) (human) PMID:20360187|REF_RGD_ID:8661709 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:12894 Sjogren's syndrome susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs7574865) (human) PMID:18273036|REF_RGD_ID:8661708 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:12894 Sjogren's syndrome susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs7582694) (human) PMID:20535138|REF_RGD_ID:8661690 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:13241 Behcet's disease ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291587 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:13241 Behcet's disease ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP: :rs7574865 (human) PMID:20438790|REF_RGD_ID:8661713 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:13241 Behcet's disease ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNPs: :rs897200, rs7572482, rs7574070 (human) PMID:23001997|REF_RGD_ID:8661718 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:1577 limited scleroderma no_association ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNPs:introns: (rs10168266, rs3821236) (human) PMID:23755762|REF_RGD_ID:8661701 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:1577 limited scleroderma susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs7574865) (human) PMID:19286670|PMID:23755762|REF_RGD_ID:8661701|REF_RGD_ID:8661714 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:1580 diffuse scleroderma no_association ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs3821236) (human) PMID:23755762|REF_RGD_ID:8661701 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:1580 diffuse scleroderma no_association ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs7574865) (human) PMID:19286670|REF_RGD_ID:8661714 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:1580 diffuse scleroderma susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:introns: (rs7574865, rs10168266) (human) PMID:23755762|REF_RGD_ID:8661701 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:1884 viral hepatitis susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver, inflammatory cell (human) PMID:24731448|REF_RGD_ID:25671417 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:1996 rectum adenocarcinoma ISO RGD:1313964 D RGD:9068941 20220812 RGD DNA:SNP:intron: (rs3024861) (human) PMID:22121102|REF_RGD_ID:153323313 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:2043 hepatitis B ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27444301 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:2048 autoimmune hepatitis susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNPs: intron 3, intron: (rs7574865, rs7582694) (human) PMID:23990947|PMID:28977835|REF_RGD_ID:25671418|REF_RGD_ID:25671419 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:2377 multiple sclerosis ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24076602 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:2841 asthma ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28807506 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:2841 asthma treatment ISO RGD:1305747 D RGD:9068941 20220812 RGD PMID:18211752|REF_RGD_ID:2317290 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP: :rs7561832 (human) PMID:20045654|REF_RGD_ID:7207872 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:2986 IgA glomerulonephritis no_association ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron:c.274-28828C>G (rs10181656) (human) PMID:20479942|REF_RGD_ID:7207878 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1305747 D RGD:9068941 20220812 RGD protein:increased expression:lung PMID:24321062|REF_RGD_ID:8661725 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:3717 gastric adenocarcinoma ISO RGD:1313964 D RGD:9068941 20220812 RGD mRNA:increased expression:stomach (human) PMID:33042401|REF_RGD_ID:153298934 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:418 systemic scleroderma ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20383147 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:418 systemic scleroderma susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs11889341) (human) PMID:19950257|REF_RGD_ID:8661711 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:418 systemic scleroderma susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs7574865) (human) PMID:19644887|REF_RGD_ID:8661700 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:630 genetic disease ISO RGD:1313964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23242368 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD Hepatitis B, Chronic; DNA:SNP: intron 3: (rs7574865) (human) PMID:26745093|REF_RGD_ID:11553302 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:8541 Sezary's disease ISO RGD:1313964 D RGD:9068941 20200609 RGD PMID:16403914|REF_RGD_ID:8661723 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:869 cholesteatoma ISO RGD:1313964 D RGD:9068941 20200609 RGD PMID:24321752|REF_RGD_ID:8661722 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:8704 genital herpes severity ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :multiple PMID:22718836|REF_RGD_ID:8661697 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:8704 genital herpes treatment ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs7572482 (human) PMID:22718836|REF_RGD_ID:8661697 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:8893 psoriasis susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS3 (rs7574865) (human) PMID:19500629|REF_RGD_ID:8661715 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:9002174 Disease Susceptibility ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27444301 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:9002514 Neointima treatment ISO RGD:1305747 D RGD:9068941 20220812 RGD associated with Carotid Artery Injuries PMID:16118253|REF_RGD_ID:5509614 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1305747 D RGD:9068941 20220812 RGD PMID:11240014|REF_RGD_ID:7207888 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:9003870 Herpes Simplex Encephalitis susceptibility ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:17266445|REF_RGD_ID:8661706 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:9004283 Transplant Rejection ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP: :rs7574865 (human) PMID:21237270|REF_RGD_ID:7207871 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:9004484 Sepsis ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:11257135|REF_RGD_ID:7207876 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:9004874 Dermal Fibrosis ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:21360510|REF_RGD_ID:8661691 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:9005005 Oral Ulcer ISO RGD:1313964 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;DNA:SNP:intron:c.274-23582A>C (rs7574865) (human) PMID:21719445|REF_RGD_ID:5147916 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:10553062|REF_RGD_ID:7207889 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:1305747 D RGD:9068941 20220812 RGD PMID:18296740|REF_RGD_ID:7207884 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:9007356 Eczema ISO RGD:1313964 D RGD:9068941 20200609 RGD PMID:22192168|REF_RGD_ID:6893665 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1313965 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, macrophage (mouse) PMID:23876342|REF_RGD_ID:25671422 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:1313965 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver, inflammatory cell (mouse) PMID:24731448|REF_RGD_ID:25671417 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:9008 psoriatic arthritis ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP: :rs10181656 (human) PMID:22328738|REF_RGD_ID:8661724 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:multiple PMID:25829184|REF_RGD_ID:25671420 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:1313964 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 11 PMID:17804842|PMID:19109131|PMID:19838193|PMID:19838195|PMID:25741868 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:9074 systemic lupus erythematosus onset ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron:c.274-23582A>C (rs7574865) (human) PMID:23049788|REF_RGD_ID:7207877 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1313964 D RGD:7240710 20190502 OMIM 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:9074 systemic lupus erythematosus treatment ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:16920939|REF_RGD_ID:7207874 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:10458767|REF_RGD_ID:8661703 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:9146 visceral leishmaniasis ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:24242758|REF_RGD_ID:8661696 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:9452 fatty liver disease ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:16799967|REF_RGD_ID:25671424 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1313965 D RGD:9068941 20220825 MouseDO OMIM:222100 12274185 STAT4 signal transducer and activator of transcription 4 gene DOID:9970 obesity treatment ISO RGD:1305747 D RGD:9068941 20220812 RGD PMID:20978234|REF_RGD_ID:5509594 12274238 MRPL52 mitochondrial ribosomal protein L52 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1319568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12274238 MRPL52 mitochondrial ribosomal protein L52 gene DOID:630 genetic disease ISO RGD:1319568 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274238 MRPL52 mitochondrial ribosomal protein L52 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1319568 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12274238 MRPL52 mitochondrial ribosomal protein L52 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319568 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12274262 SLC31A1 solute carrier family 31 member 1 gene DOID:1059 intellectual disability ISO RGD:735683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12274262 SLC31A1 solute carrier family 31 member 1 gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:735684 D RGD:9068941 20200609 RGD protein:increased expression:spinal chord PMID:19656261|REF_RGD_ID:13524567 12274262 SLC31A1 solute carrier family 31 member 1 gene DOID:630 genetic disease ISO RGD:735683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274262 SLC31A1 solute carrier family 31 member 1 gene DOID:6432 pulmonary hypertension ISO RGD:735683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24614111 12274262 SLC31A1 solute carrier family 31 member 1 gene DOID:9000304 Manganese Poisoning ISO RGD:735683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22465424 12274262 SLC31A1 solute carrier family 31 member 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:735683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23792645 12274262 SLC31A1 solute carrier family 31 member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25320179 12274262 SLC31A1 solute carrier family 31 member 1 gene DOID:9004994 Embryo Loss ISO RGD:735683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11391004 12274262 SLC31A1 solute carrier family 31 member 1 gene DOID:9005749 Necrosis ISO RGD:735683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19144690 12274262 SLC31A1 solute carrier family 31 member 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:735683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11391004 12274271 IBTK inhibitor of Bruton tyrosine kinase gene DOID:10283 prostate cancer ISO RGD:1323289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12274271 IBTK inhibitor of Bruton tyrosine kinase gene DOID:630 genetic disease ISO RGD:1323289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274310 CBX3 chromobox 3 gene DOID:10283 prostate cancer ISO RGD:1352044 D RGD:9068941 20200609 RGD protein:increased expression:prostate: PMID:18436254|REF_RGD_ID:9586744 12274310 CBX3 chromobox 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12274310 CBX3 chromobox 3 gene DOID:630 genetic disease ISO RGD:1352044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274310 CBX3 chromobox 3 gene DOID:9007479 Habitual Abortions ISO RGD:1352044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion 12274324 OR6S1 olfactory receptor family 6 subfamily S member 1 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1348726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12274324 OR6S1 olfactory receptor family 6 subfamily S member 1 gene DOID:630 genetic disease ISO RGD:1348726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274327 KBTBD4 kelch repeat and BTB domain containing 4 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1321017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12274327 KBTBD4 kelch repeat and BTB domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1321017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12274327 KBTBD4 kelch repeat and BTB domain containing 4 gene DOID:630 genetic disease ISO RGD:1321017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274351 EML3 EMAP like 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12274351 EML3 EMAP like 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1606414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 12274351 EML3 EMAP like 3 gene DOID:1059 intellectual disability ISO RGD:1606414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12274351 EML3 EMAP like 3 gene DOID:630 genetic disease ISO RGD:1606414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274392 DNAH10 dynein axonemal heavy chain 10 gene DOID:0060224 atrial fibrillation ISO RGD:733008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12274392 DNAH10 dynein axonemal heavy chain 10 gene DOID:0111910 spermatogenic failure ISO RGD:733009 D RGD:9068941 20220825 MouseDO 12274392 DNAH10 dynein axonemal heavy chain 10 gene DOID:0112336 spermatogenic failure 56 ISO RGD:733008 D RGD:7240710 20210908 OMIM 12274392 DNAH10 dynein axonemal heavy chain 10 gene DOID:0112336 spermatogenic failure 56 ISO RGD:733008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 56 PMID:25741868|PMID:34237282 12274392 DNAH10 dynein axonemal heavy chain 10 gene DOID:12336 male infertility ISO RGD:733008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 12274392 DNAH10 dynein axonemal heavy chain 10 gene DOID:630 genetic disease ISO RGD:733008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274482 TRIM63 tripartite motif containing 63 gene DOID:0050700 cardiomyopathy ISO RGD:1345707 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19168726 12274482 TRIM63 tripartite motif containing 63 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1345707 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:22821932|PMID:24436435|PMID:25741868|PMID:25801283|PMID:28492532|PMID:30372688|PMID:32451364|PMID:35273634 12274482 TRIM63 tripartite motif containing 63 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1345707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 12274482 TRIM63 tripartite motif containing 63 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1345707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12274482 TRIM63 tripartite motif containing 63 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1345707 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:22821932|PMID:24436435|PMID:25741868|PMID:25801283|PMID:28492532|PMID:30372688|PMID:32451364|PMID:35273634 12274482 TRIM63 tripartite motif containing 63 gene DOID:630 genetic disease ISO RGD:1345707 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22821932|PMID:24436435|PMID:25741868|PMID:25801283|PMID:28492532|PMID:30372688|PMID:32451364|PMID:35273634 12274482 TRIM63 tripartite motif containing 63 gene DOID:767 muscular atrophy ISO RGD:1345707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21139329 12274482 TRIM63 tripartite motif containing 63 gene DOID:767 muscular atrophy ISO RGD:619964 D RGD:9068941 20200609 RGD mRNA:increased expression:gastrocnemius PMID:11679633|REF_RGD_ID:633893 12274482 TRIM63 tripartite motif containing 63 gene DOID:9003936 Cardiomegaly ISO RGD:1345707 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19168726 12274482 TRIM63 tripartite motif containing 63 gene DOID:9004462 Atrophy ISO RGD:1345707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19168726 12274482 Trim63 tripartite motif containing 63 gene DOID:9884 muscular dystrophy ISO RGD:619964 D RGD:9068941 20200609 RGD dexamethaso-induced and hindlimb denervation PMID:24710205|REF_RGD_ID:14695084 12274499 OR10K1 olfactory receptor family 10 subfamily K member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1351615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12274499 OR10K1 olfactory receptor family 10 subfamily K member 1 gene DOID:630 genetic disease ISO RGD:1351615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274499 OR10K1 olfactory receptor family 10 subfamily K member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12274502 TOM1L2 target of myb1 like 2 membrane trafficking protein gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1315512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 12274502 TOM1L2 target of myb1 like 2 membrane trafficking protein gene DOID:0050777 Joubert syndrome ISO RGD:1315512 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12274502 TOM1L2 target of myb1 like 2 membrane trafficking protein gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1315512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis syndrome PMID:25087610 12274502 TOM1L2 target of myb1 like 2 membrane trafficking protein gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1315512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12274502 TOM1L2 target of myb1 like 2 membrane trafficking protein gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1315512 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12274502 TOM1L2 target of myb1 like 2 membrane trafficking protein gene DOID:12849 autistic disorder ISO RGD:1315512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12274502 TOM1L2 target of myb1 like 2 membrane trafficking protein gene DOID:630 genetic disease ISO RGD:1315512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274528 MARVELD3 MARVEL domain containing 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1347121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12274528 MARVELD3 MARVEL domain containing 3 gene DOID:630 genetic disease ISO RGD:1347121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274535 GDPD1 glycerophosphodiester phosphodiesterase domain containing 1 gene DOID:0050777 Joubert syndrome ISO RGD:1349545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12274535 GDPD1 glycerophosphodiester phosphodiesterase domain containing 1 gene DOID:630 genetic disease ISO RGD:1349545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274552 HROB homologous recombination factor with OB-fold gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1602101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 12274552 HROB homologous recombination factor with OB-fold gene DOID:5426 primary ovarian insufficiency ISO RGD:1602101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency 12274567 CCNB1 cyclin B1 gene DOID:0060058 lymphoma ISO RGD:735742 D RGD:9068941 20200609 RGD PMID:19666607|REF_RGD_ID:2315935 12274567 CCNB1 cyclin B1 gene DOID:0080600 COVID-19 ISO RGD:733179 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12274567 CCNB1 cyclin B1 gene DOID:10283 prostate cancer ISO RGD:733179 D RGD:9068941 20200609 RGD PMID:18006855|REF_RGD_ID:2293596 12274567 CCNB1 cyclin B1 gene DOID:11132 prostatic hypertrophy ISO RGD:735742 D RGD:9068941 20200609 RGD PMID:12670908|REF_RGD_ID:2315046 12274567 CCNB1 cyclin B1 gene DOID:11612 polycystic ovary syndrome ISO RGD:733179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12274567 CCNB1 cyclin B1 gene DOID:11832 visual epilepsy ISO RGD:2291 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus CA1, neuron PMID:16242239|REF_RGD_ID:2315994 12274567 CCNB1 cyclin B1 gene DOID:1612 breast cancer ISO RGD:733179 D RGD:9068941 20200609 RGD PMID:19223507|REF_RGD_ID:2315937 12274567 CCNB1 cyclin B1 gene DOID:1612 breast cancer disease_progression ISO RGD:733179 D RGD:9068941 20200609 RGD PMID:19957331|REF_RGD_ID:2315934 12274567 CCNB1 cyclin B1 gene DOID:2152 ovary epithelial cancer ISO RGD:733179 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:19608149|REF_RGD_ID:2315936 12274567 CCNB1 cyclin B1 gene DOID:2526 prostate adenocarcinoma severity ISO RGD:733179 D RGD:9068941 20200609 RGD PMID:10193948|REF_RGD_ID:2315940 12274567 CCNB1 cyclin B1 gene DOID:2871 endometrial carcinoma ISO RGD:733179 D RGD:9068941 20200609 RGD PMID:17483252|REF_RGD_ID:2289230 12274567 CCNB1 cyclin B1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733179 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34837450 12274567 CCNB1 cyclin B1 gene DOID:4362 cervical cancer ISO RGD:733179 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:uterine cervix PMID:16614707|REF_RGD_ID:2315938 12274567 CCNB1 cyclin B1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:733179 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:16557593|REF_RGD_ID:2315941 12274567 CCNB1 cyclin B1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29464035 12274567 CCNB1 cyclin B1 gene DOID:630 genetic disease ISO RGD:733179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274567 CCNB1 cyclin B1 gene DOID:684 hepatocellular carcinoma ISO RGD:733179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12274567 CCNB1 cyclin B1 gene DOID:8719 in situ carcinoma ISO RGD:733179 D RGD:9068941 20200609 RGD associated with Vulvar Neoplasms;protein:increased expression:vulva PMID:12610511|REF_RGD_ID:2296040 12274567 CCNB1 cyclin B1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2291 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:17342310|REF_RGD_ID:2315991 12274567 CCNB1 cyclin B1 gene DOID:9002221 Hyperplasia ISO RGD:2291 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:thyroid gland PMID:19298605|REF_RGD_ID:2314685 12274567 CCNB1 cyclin B1 gene DOID:9004009 Reperfusion Injury ISO RGD:2291 D RGD:9068941 20200609 RGD protein;altered expression:cerebral cortex, hippocampus CA1, neuron PMID:18278459|REF_RGD_ID:2315990 12274567 CCNB1 cyclin B1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12274567 CCNB1 cyclin B1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735742 D RGD:9068941 20200609 RGD PMID:11146550|REF_RGD_ID:2315939 12274567 CCNB1 cyclin B1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2291 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:20031167|REF_RGD_ID:2316310 12274580 SHISA5 shisa family member 5 gene DOID:630 genetic disease ISO RGD:1602716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274580 SHISA5 shisa family member 5 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1602716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12274580 SHISA5 shisa family member 5 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1602716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12274590 TMIE transmembrane inner ear gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1343102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:12145746|PMID:19438934|PMID:25741868|PMID:30303587|PMID:30311386|PMID:8593615 12274590 TMIE transmembrane inner ear gene DOID:0110512 autosomal recessive nonsyndromic deafness 6 ISO RGD:1343102 D RGD:7240710 20180130 OMIM 12274590 TMIE transmembrane inner ear gene DOID:0110512 autosomal recessive nonsyndromic deafness 6 ISO RGD:1343102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 6 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 6 PMID:12145746|PMID:16389551|PMID:19438934|PMID:24033266|PMID:24416283|PMID:24875298|PMID:25741868|PMID:28492532|PMID:30303587|PMID:30311386|PMID:35710363|PMID:8593615 12274590 TMIE transmembrane inner ear gene DOID:10003 sensorineural hearing loss ISO RGD:1343102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:12145746|PMID:19438934|PMID:25741868|PMID:30303587|PMID:30311386|PMID:8593615 12274590 TMIE transmembrane inner ear gene DOID:630 genetic disease ISO RGD:1343102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 12274590 TMIE transmembrane inner ear gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1343102 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12274590 TMIE transmembrane inner ear gene DOID:9004538 Hearing Loss ISO RGD:1343102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:12145746|PMID:19438934|PMID:25741868|PMID:30303587|PMID:30311386|PMID:8593615 12274590 TMIE transmembrane inner ear gene DOID:9004538 Hearing Loss ISO RGD:1343102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:12145746|PMID:19438934|PMID:25741868|PMID:28492532|PMID:30303587|PMID:30311386|PMID:8593615 12274598 RAPSN receptor associated protein of the synapse gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1314835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12274598 RAPSN receptor associated protein of the synapse gene DOID:0080000 muscular disease ISO RGD:1314835 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9668287 12274598 RAPSN receptor associated protein of the synapse gene DOID:0110675 congenital myasthenic syndrome 11 ISO RGD:1314835 D RGD:7240710 20180829 OMIM 12274598 RAPSN receptor associated protein of the synapse gene DOID:0110675 congenital myasthenic syndrome 11 ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 11 PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15145336|PMID:15282317|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16199547|PMID:16931511|PMID:16945936|PMID:17190963|PMID:17594401|PMID:17686188|PMID:17878953|PMID:18179903|PMID:19620612|PMID:20157724|PMID:20301347|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:22326364|PMID:2245297|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:25741902|PMID:26147564|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:28492532|PMID:28495245|PMID:29053879|PMID:29054425|PMID:29189923|PMID:30124556|PMID:30266223|PMID:32070632|PMID:32528171|PMID:34106991 12274598 RAPSN receptor associated protein of the synapse gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16945936|PMID:17190963|PMID:19620612|PMID:20157724|PMID:20301347|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:28492532|PMID:29053879|PMID:29054425|PMID:29189923|PMID:30124556|PMID:30266223 12274598 RAPSN receptor associated protein of the synapse gene DOID:0111375 fetal akinesia deformation sequence syndrome ISO RGD:1314835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 PMID:12651869|PMID:15145336|PMID:15282317|PMID:19620612|PMID:22326364|PMID:2245297|PMID:25741868|PMID:28492532 12274598 RAPSN receptor associated protein of the synapse gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1314835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: RAPSN-Related Disorders PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15145336|PMID:15282317|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16199547|PMID:16931511|PMID:16945936|PMID:17190963|PMID:17576681|PMID:17594401|PMID:17686188|PMID:17878953|PMID:18179903|PMID:19620612|PMID:20157724|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:21520333|PMID:22326364|PMID:2245297|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:25741902|PMID:26147564|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:27966543|PMID:28492532|PMID:28495245|PMID:29053879|PMID:29054425|PMID:29189923|PMID:29478601|PMID:30124556|PMID:30266223|PMID:31680123|PMID:32070632|PMID:33502061|PMID:9536098 12274598 RAPSN receptor associated protein of the synapse gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: RAPSN-Related Disorders PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15145336|PMID:15282317|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16199547|PMID:16931511|PMID:16945936|PMID:17190963|PMID:17576681|PMID:17594401|PMID:17686188|PMID:17878953|PMID:18179903|PMID:19620612|PMID:20157724|PMID:20301347|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:21520333|PMID:22326364|PMID:2245297|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:25741902|PMID:26147564|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:27966543|PMID:28492532|PMID:28495245|PMID:29053879|PMID:29054425|PMID:29189923|PMID:29478601|PMID:30124556|PMID:30266093|PMID:30266223|PMID:31127727|PMID:31680123|PMID:31965297|PMID:32070632|PMID:32528171|PMID:33255631|PMID:33502061|PMID:34106991|PMID:9536098 12274598 RAPSN receptor associated protein of the synapse gene DOID:0111378 fetal akinesia deformation sequence syndrome 2 ISO RGD:1314835 D RGD:7240710 20190501 OMIM 12274598 RAPSN receptor associated protein of the synapse gene DOID:0111378 fetal akinesia deformation sequence syndrome 2 ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2 PMID:12651869|PMID:14504330|PMID:15036330|PMID:15145336|PMID:15282317|PMID:18179903|PMID:18252226|PMID:19620612|PMID:21520333|PMID:22326364|PMID:2245297|PMID:25741868|PMID:26467025|PMID:28492532 12274598 RAPSN receptor associated protein of the synapse gene DOID:1059 intellectual disability ISO RGD:1314835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12274598 RAPSN receptor associated protein of the synapse gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12274598 RAPSN receptor associated protein of the synapse gene DOID:3635 congenital myasthenic syndrome ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15145336|PMID:15282317|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16199547|PMID:16945936|PMID:17190963|PMID:17576681|PMID:17594401|PMID:17686188|PMID:17878953|PMID:18179903|PMID:19620612|PMID:20157724|PMID:20301347|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:22326364|PMID:2245297|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:28492532|PMID:29053879|PMID:29054425|PMID:29189923|PMID:30124556|PMID:30266223|PMID:31680123|PMID:31965297|PMID:33502061|PMID:9536098 12274598 RAPSN receptor associated protein of the synapse gene DOID:417 autoimmune disease ISO RGD:1314835 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9668287 12274598 RAPSN receptor associated protein of the synapse gene DOID:423 myopathy ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16931511|PMID:16945936|PMID:17190963|PMID:19620612|PMID:20157724|PMID:20301347|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:28492532|PMID:29053879|PMID:29054425|PMID:29189923|PMID:30124556|PMID:30266223|PMID:32070632|PMID:32528171|PMID:34106991 12274598 RAPSN receptor associated protein of the synapse gene DOID:630 genetic disease ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16945936|PMID:17190963|PMID:19620612|PMID:20157724|PMID:20301347|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:28492532|PMID:29053879|PMID:29054425|PMID:29189923|PMID:30124556|PMID:30266223 12274598 RAPSN receptor associated protein of the synapse gene DOID:9008086 Developmental Disabilities ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16931511|PMID:17686188|PMID:25741868|PMID:25741902|PMID:26467025|PMID:28492532 12274598 RAPSN receptor associated protein of the synapse gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:1311592 D RGD:9068941 20200609 RGD protein:decreased expression:neuromuscular junction PMID:19344765|REF_RGD_ID:8549750 12274598 RAPSN receptor associated protein of the synapse gene DOID:9008386 Hydrops Fetalis ISO RGD:1314835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrops fetalis PMID:10449659|PMID:25741868|PMID:31680349 12274598 RAPSN receptor associated protein of the synapse gene DOID:9008585 Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency ISO RGD:1314835 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12274611 PWWP3B PWWP domain containing 3B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12274611 PWWP3B PWWP domain containing 3B gene DOID:12849 autistic disorder ISO RGD:1349980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12274611 PWWP3B PWWP domain containing 3B gene DOID:630 genetic disease ISO RGD:1349980 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274635 MRM3 mitochondrial rRNA methyltransferase 3 gene DOID:630 genetic disease ISO RGD:1351342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274643 TRAPPC3L trafficking protein particle complex subunit 3L gene DOID:0060163 body dysmorphic disorder ISO RGD:1342888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 12274643 TRAPPC3L trafficking protein particle complex subunit 3L gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1342888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12274643 TRAPPC3L trafficking protein particle complex subunit 3L gene DOID:1059 intellectual disability ISO RGD:1342888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24824130 12274643 TRAPPC3L trafficking protein particle complex subunit 3L gene DOID:10907 microcephaly ISO RGD:1342888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 12274643 TRAPPC3L trafficking protein particle complex subunit 3L gene DOID:1826 epilepsy ISO RGD:1342888 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12274643 TRAPPC3L trafficking protein particle complex subunit 3L gene DOID:630 genetic disease ISO RGD:1342888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274643 TRAPPC3L trafficking protein particle complex subunit 3L gene DOID:9000495 Tremor ISO RGD:1342888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12274670 EXD3 exonuclease 3'-5' domain containing 3 gene DOID:0050777 Joubert syndrome ISO RGD:1606281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12274670 EXD3 exonuclease 3'-5' domain containing 3 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1606281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12274670 EXD3 exonuclease 3'-5' domain containing 3 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1606281 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12274670 EXD3 exonuclease 3'-5' domain containing 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12274670 EXD3 exonuclease 3'-5' domain containing 3 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1606281 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12274670 EXD3 exonuclease 3'-5' domain containing 3 gene DOID:0081097 Rafiq syndrome ISO RGD:1606281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12274670 EXD3 exonuclease 3'-5' domain containing 3 gene DOID:1826 epilepsy ISO RGD:1606281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12274670 EXD3 exonuclease 3'-5' domain containing 3 gene DOID:630 genetic disease ISO RGD:1606281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274670 EXD3 exonuclease 3'-5' domain containing 3 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1606281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12274720 OR6C3I olfactory receptor family 6 subfamily C member 3I gene DOID:630 genetic disease ISO RGD:1343219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274724 LOC100686187 keratin-associated protein 13-1-like gene DOID:630 genetic disease ISO RGD:1343476 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274735 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:0080162 lupus nephritis treatment ISO RGD:1313167 D RGD:9068941 20200609 RGD mouse model PMID:15494537|REF_RGD_ID:10760401 12274735 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:0080162 lupus nephritis treatment ISO RGD:1313168 D RGD:9068941 20200609 RGD mouse model PMID:15494537|REF_RGD_ID:10760401 12274735 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:0080162 lupus nephritis treatment ISO RGD:2321675 D RGD:9068941 20200609 RGD mouse model PMID:15494537|REF_RGD_ID:10760401 12274735 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:0110698 hypotrichosis 1 ISO RGD:1313167 D RGD:9068941 20200609 RGD DNA:snp:cds:c.1A>G (human) PMID:23246290|REF_RGD_ID:10768831 12274735 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:0110708 hypotrichosis 11 ISO RGD:1313167 D RGD:7240710 20180130 OMIM 12274735 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:0110708 hypotrichosis 11 ISO RGD:1313167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotrichosis 11 PMID:23246290|PMID:9621144 12274735 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1313167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12274735 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:10283 prostate cancer severity ISO RGD:1313167 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland (human) PMID:22740892|REF_RGD_ID:10768830 12274735 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:1540 parathyroid carcinoma ISO RGD:1313167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12274735 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:1924 hypogonadism ISO RGD:1313168 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E51D (mouse) PMID:22258617|REF_RGD_ID:10768832 12274735 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:3910 lung adenocarcinoma severity ISO RGD:1313167 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:22876301|REF_RGD_ID:10768834 12274735 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:4535 hypotrichosis ISO RGD:1313167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12274735 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:630 genetic disease ISO RGD:1313167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274735 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:684 hepatocellular carcinoma ISO RGD:1313167 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:21688285|REF_RGD_ID:10768833 12274735 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:769 neuroblastoma severity ISO RGD:1313167 D RGD:9068941 20200609 RGD mRNA:decreased expression:neuroblastoma (human) PMID:17075126|REF_RGD_ID:10755762 12274735 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1313167 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12274735 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12274735 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:9261 nasopharynx carcinoma ISO RGD:1313167 D RGD:9068941 20200609 RGD mRNA:increased expression:nasopharynx (human) PMID:24080422|REF_RGD_ID:10755709 12274735 SNRPE small nuclear ribonucleoprotein polypeptide E gene DOID:9952 acute lymphoblastic leukemia severity ISO RGD:1313167 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone marrow, blood, mononuclear cell (human) PMID:23915977|REF_RGD_ID:10768836 12274744 MAFK MAF bZIP transcription factor K gene DOID:630 genetic disease ISO RGD:1350091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274806 QPCT glutaminyl-peptide cyclotransferase gene DOID:0080690 RASopathy ISO RGD:735639 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12274806 QPCT glutaminyl-peptide cyclotransferase gene DOID:1909 melanoma ISO RGD:735639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 12274806 QPCT glutaminyl-peptide cyclotransferase gene DOID:3042 allergic contact dermatitis ISO RGD:735639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 12274806 QPCT glutaminyl-peptide cyclotransferase gene DOID:630 genetic disease ISO RGD:735639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274806 QPCT glutaminyl-peptide cyclotransferase gene DOID:813 septic arthritis ISO RGD:735640 D RGD:9068941 20210212 RGD PMID:23204180|REF_RGD_ID:41410433 12274806 QPCT glutaminyl-peptide cyclotransferase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770605 12274827 PAN2 poly(A) specific ribonuclease subunit PAN2 gene DOID:13580 cholestasis ISO RGD:1348496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12274827 PAN2 poly(A) specific ribonuclease subunit PAN2 gene DOID:630 genetic disease ISO RGD:1348496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274827 PAN2 poly(A) specific ribonuclease subunit PAN2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12274872 PPP4R2 protein phosphatase 4 regulatory subunit 2 gene DOID:630 genetic disease ISO RGD:1316433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274885 MPC2 mitochondrial pyruvate carrier 2 gene DOID:0111942 immunodeficiency 25 ISO RGD:1604029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 12274885 MPC2 mitochondrial pyruvate carrier 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1604029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12274885 MPC2 mitochondrial pyruvate carrier 2 gene DOID:630 genetic disease ISO RGD:1604029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274885 MPC2 mitochondrial pyruvate carrier 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12274914 NFE2L3 NFE2 like bZIP transcription factor 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12274914 NFE2L3 NFE2 like bZIP transcription factor 3 gene DOID:630 genetic disease ISO RGD:1317092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274922 SLC7A10 solute carrier family 7 member 10 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:731925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12274922 SLC7A10 solute carrier family 7 member 10 gene DOID:630 genetic disease ISO RGD:731925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12274922 SLC7A10 solute carrier family 7 member 10 gene DOID:9119 acute myeloid leukemia ISO RGD:731925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:28492532 12274954 MYO3A myosin IIIA gene DOID:0050563 nonsyndromic deafness ISO RGD:1349635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:25741868|PMID:29880844 12274954 MYO3A myosin IIIA gene DOID:0110489 autosomal recessive nonsyndromic deafness 30 ISO RGD:1349635 D RGD:7240710 20180130 OMIM 12274954 MYO3A myosin IIIA gene DOID:0110489 autosomal recessive nonsyndromic deafness 30 ISO RGD:1349635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 30 PMID:12032315|PMID:17344846|PMID:17576681|PMID:21165622|PMID:23967202|PMID:23990876|PMID:24033266|PMID:24214986|PMID:25741868|PMID:26166082|PMID:26467025|PMID:26841241|PMID:27068579|PMID:28492532|PMID:30311386|PMID:32006683|PMID:32747562|PMID:9536098 12274954 MYO3A myosin IIIA gene DOID:10003 sensorineural hearing loss ISO RGD:1349635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:12032315|PMID:23990876|PMID:25741868|PMID:28492532|PMID:32006683|PMID:32747562 12274954 MYO3A myosin IIIA gene DOID:630 genetic disease ISO RGD:1349635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 12274954 MYO3A myosin IIIA gene DOID:9004538 Hearing Loss ISO RGD:1349635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 12274954 MYO3A myosin IIIA gene DOID:9006380 Bilateral Hearing Loss ISO RGD:1349635 D RGD:9068941 20200609 RGD DFNB30, OMIM:607101, DNA:point mutation:exon:Y1043X PMID:12032315|REF_RGD_ID:1600555 12274954 MYO3A myosin IIIA gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1349635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss PMID:25741868|PMID:29880844 12275002 NSUN3 NOP2/Sun RNA methyltransferase 3 gene DOID:0111003 Joubert syndrome 8 ISO RGD:1351028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 8 PMID:28492532 12275002 NSUN3 NOP2/Sun RNA methyltransferase 3 gene DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency ISO RGD:1351028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive PMID:16363235|PMID:22627709|PMID:28492532|PMID:9241758 12275002 NSUN3 NOP2/Sun RNA methyltransferase 3 gene DOID:0112112 combined oxidative phosphorylation deficiency 48 ISO RGD:1351028 D RGD:7240710 20200930 OMIM 12275002 NSUN3 NOP2/Sun RNA methyltransferase 3 gene DOID:0112112 combined oxidative phosphorylation deficiency 48 ISO RGD:1351028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 48 PMID:27356879|PMID:28492532|PMID:32671698 12275002 NSUN3 NOP2/Sun RNA methyltransferase 3 gene DOID:2451 protein S deficiency ISO RGD:1351028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Protein S deficiency disease PMID:32581362 12275002 NSUN3 NOP2/Sun RNA methyltransferase 3 gene DOID:630 genetic disease ISO RGD:1351028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12275012 MACIR macrophage immunometabolism regulator gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602449 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12275012 MACIR macrophage immunometabolism regulator gene DOID:0080600 COVID-19 ISO RGD:1602449 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12275012 MACIR macrophage immunometabolism regulator gene DOID:3068 glioblastoma ISO RGD:1602449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12275012 MACIR macrophage immunometabolism regulator gene DOID:3908 lung non-small cell carcinoma ISO RGD:1602449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12275012 MACIR macrophage immunometabolism regulator gene DOID:9000081 Lymphatic Metastasis ISO RGD:1602449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12275012 MACIR macrophage immunometabolism regulator gene DOID:9000117 Esophageal Neoplasms ISO RGD:1602449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12275012 MACIR macrophage immunometabolism regulator gene DOID:9002304 Prostatic Neoplasms ISO RGD:1602449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12275012 MACIR macrophage immunometabolism regulator gene DOID:9002762 Ovarian Neoplasms ISO RGD:1602449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12275012 MACIR macrophage immunometabolism regulator gene DOID:9002928 Colonic Neoplasms ISO RGD:1602449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12275012 MACIR macrophage immunometabolism regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12275012 MACIR macrophage immunometabolism regulator gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602449 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12275012 MACIR macrophage immunometabolism regulator gene DOID:9007188 Liver Neoplasms ISO RGD:1602449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12275012 MACIR macrophage immunometabolism regulator gene DOID:9008939 Breast Neoplasms ISO RGD:1602449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12275020 GNG13 G protein subunit gamma 13 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1318585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12275020 GNG13 G protein subunit gamma 13 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1318585 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12275020 GNG13 G protein subunit gamma 13 gene DOID:1826 epilepsy ISO RGD:1318585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12275020 GNG13 G protein subunit gamma 13 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12275020 GNG13 G protein subunit gamma 13 gene DOID:630 genetic disease ISO RGD:1318585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275027 RPL27A ribosomal protein L27a gene DOID:0050753 cerebellar ataxia ISO RGD:1320286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21674502 12275027 RPL27A ribosomal protein L27a gene DOID:12450 pancytopenia ISO RGD:1320286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21674502 12275027 RPL27A ribosomal protein L27a gene DOID:3910 lung adenocarcinoma ISO RGD:1320286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12275027 RPL27A ribosomal protein L27a gene DOID:630 genetic disease ISO RGD:1320286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275027 RPL27A ribosomal protein L27a gene DOID:9003984 Hyperpigmentation ISO RGD:1320286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21674502 12275027 RPL27A ribosomal protein L27a gene DOID:9006205 Animal Disease Models ISO RGD:1320286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12275044 ARL14EPL ADP ribosylation factor like GTPase 14 effector protein like gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:6771193 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12275044 ARL14EPL ADP ribosylation factor like GTPase 14 effector protein like gene DOID:12849 autistic disorder ISO RGD:6771193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12275044 ARL14EPL ADP ribosylation factor like GTPase 14 effector protein like gene DOID:630 genetic disease ISO RGD:6771193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275044 ARL14EPL ADP ribosylation factor like GTPase 14 effector protein like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:6771193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12275044 ARL14EPL ADP ribosylation factor like GTPase 14 effector protein like gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:6771193 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12275049 GUCA2B guanylate cyclase activator 2B gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:736719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12275049 GUCA2B guanylate cyclase activator 2B gene DOID:1184 nephrotic syndrome ISO RGD:736719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15780094 12275049 GUCA2B guanylate cyclase activator 2B gene DOID:630 genetic disease ISO RGD:736719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275049 GUCA2B guanylate cyclase activator 2B gene DOID:783 end stage renal disease ISO RGD:736719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15780094 12275057 BTN1A1 butyrophilin subfamily 1 member A1 gene DOID:630 genetic disease ISO RGD:1315909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275070 DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:734413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12275070 DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:734413 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12275070 DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:734413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12275070 DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 gene DOID:403 mouth disease ISO RGD:734413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 12275070 DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 gene DOID:630 genetic disease ISO RGD:734413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275070 DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:734413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12275070 DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 gene DOID:9870 galactosemia ISO RGD:734413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12275089 MIR124-1 microRNA mir-124-1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12275117 AGT angiotensinogen gene DOID:0050589 inflammatory bowel disease ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M235T (human) PMID:20717043|REF_RGD_ID:11039049 12275117 AGT angiotensinogen gene DOID:0050700 cardiomyopathy ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12145768 12275117 AGT angiotensinogen gene DOID:0060224 atrial fibrillation ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes:promoter:multiple PMID:18239384|REF_RGD_ID:8548862 12275117 AGT angiotensinogen gene DOID:0060903 thrombosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11881036|PMID:21501650 12275117 AGT angiotensinogen gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:731070 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 12275117 AGT angiotensinogen gene DOID:0080322 polycystic kidney disease ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:20798958|REF_RGD_ID:12879406 12275117 AGT angiotensinogen gene DOID:0080600 COVID-19 ISO RGD:731070 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:32048163 12275117 AGT angiotensinogen gene DOID:10591 pre-eclampsia ISO RGD:731070 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Preeclampsia, susceptibility to PMID:1394429|PMID:16059745|PMID:25741868|PMID:28492532|PMID:7649545|PMID:7883995|PMID:8348146|PMID:8513325|PMID:8518804|PMID:9259580|PMID:9421481|PMID:9831339 12275117 AGT angiotensinogen gene DOID:10603 glucose intolerance ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26704350 12275117 AGT angiotensinogen gene DOID:10652 Alzheimer's disease ISO RGD:731070 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:21297254|REF_RGD_ID:5129180 12275117 AGT angiotensinogen gene DOID:1073 renal hypertension ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8763405 12275117 AGT angiotensinogen gene DOID:1074 kidney failure ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9259580 12275117 AGT angiotensinogen gene DOID:10763 hypertension ISO RGD:731070 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hypertension PMID:1394429|PMID:16059745|PMID:25741868|PMID:28492532|PMID:7649545|PMID:7883995|PMID:8348146|PMID:8513325|PMID:8518804|PMID:9259580|PMID:9421481|PMID:9831339 12275117 AGT angiotensinogen gene DOID:10763 hypertension no_association ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-6G>A, p.M235T, p.T174M PMID:16514903|REF_RGD_ID:1601143 12275117 AGT angiotensinogen gene DOID:10763 hypertension susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M235T PMID:17334527|REF_RGD_ID:1601130 12275117 AGT angiotensinogen gene DOID:10763 hypertension susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-20C>A (human) PMID:17161775|REF_RGD_ID:1601139 12275117 AGT angiotensinogen gene DOID:10763 hypertension susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.T174M, p.M235T (human) PMID:16739866|REF_RGD_ID:1601141 12275117 AGT angiotensinogen gene DOID:10763 hypertension treatment ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:19932924|REF_RGD_ID:8549469 12275117 AGT angiotensinogen gene DOID:10808 gastric ulcer treatment ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:24231511|REF_RGD_ID:11039418 12275117 AGT angiotensinogen gene DOID:10824 malignant hypertension ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2493837|PMID:27428043 12275117 AGT angiotensinogen gene DOID:10825 essential hypertension ISO RGD:731070 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Essential hypertension, genetic | ClinVar Annotator: match by term: Hypertension, essential, susceptibility to PMID:12743009|PMID:13937884|PMID:1394429|PMID:15077204|PMID:16059745|PMID:17047091|PMID:20978123|PMID:24452034|PMID:25278896|PMID:25741868|PMID:28492532|PMID:35005812|PMID:7649545|PMID:7883995|PMID:8348146|PMID:8513325|PMID:8518804|PMID:9120024|PMID:9259580|PMID:9421481|PMID:9831339|PMID:9894356 12275117 AGT angiotensinogen gene DOID:10907 microcephaly ISO RGD:731070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12275117 AGT angiotensinogen gene DOID:11049 meconium aspiration syndrome ISO RGD:2069 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:14605247|REF_RGD_ID:11039054 12275117 AGT angiotensinogen gene DOID:11111 hydronephrosis ISO RGD:10118 D RGD:9068941 20200609 RGD PMID:12399452|REF_RGD_ID:1300273 12275117 AGT angiotensinogen gene DOID:11111 hydronephrosis treatment ISO RGD:731070 D RGD:9068941 20200609 RGD PMID:12399452|REF_RGD_ID:1300273 12275117 AGT angiotensinogen gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.M235T (human) PMID:16521052|REF_RGD_ID:11039045 12275117 AGT angiotensinogen gene DOID:11123 Henoch-Schoenlein purpura severity ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.T174M (human) PMID:20702504|REF_RGD_ID:11039055 12275117 AGT angiotensinogen gene DOID:11382 corneal neovascularization ISO RGD:10118 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cornea PMID:18829859|REF_RGD_ID:8548897 12275117 AGT angiotensinogen gene DOID:11396 pulmonary edema ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M235T (human) PMID:21393362|REF_RGD_ID:5129160 12275117 AGT angiotensinogen gene DOID:114 heart disease ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19373235 12275117 AGT angiotensinogen gene DOID:11446 sciatic neuropathy ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:20886512|REF_RGD_ID:5129198 12275117 AGT angiotensinogen gene DOID:11563 retinal vasculitis ISO RGD:10118 D RGD:9068941 20200609 RGD PMID:19834028|REF_RGD_ID:11039401 12275117 AGT angiotensinogen gene DOID:11716 prediabetes syndrome ISO RGD:2069 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;mRNA, protein:increased expression:kidney PMID:23322513|REF_RGD_ID:8549461 12275117 AGT angiotensinogen gene DOID:11984 hypertrophic cardiomyopathy no_association ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.T174M, p.M235T (human) PMID:9270088|REF_RGD_ID:1566491 12275117 AGT angiotensinogen gene DOID:11984 hypertrophic cardiomyopathy susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.M235T(human) PMID:9023164|REF_RGD_ID:13432163 12275117 AGT angiotensinogen gene DOID:1205 allergic disease susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M235T (human) PMID:10200023|REF_RGD_ID:8142344 12275117 AGT angiotensinogen gene DOID:12185 otosclerosis ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.M235T (human) PMID:18491423|REF_RGD_ID:8548860 12275117 AGT angiotensinogen gene DOID:12185 otosclerosis no_association ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.M235T (rs699) (human) PMID:19503013|REF_RGD_ID:8548871 12275117 AGT angiotensinogen gene DOID:12215 oligohydramnios ISO RGD:731070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anhydramnios PMID:25741868|PMID:35005812 12275117 AGT angiotensinogen gene DOID:12236 primary biliary cholangitis ISO RGD:2069 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17532087|REF_RGD_ID:9685452 12275117 AGT angiotensinogen gene DOID:12351 alcoholic hepatitis ISO RGD:731070 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:17258719|REF_RGD_ID:1601135 12275117 AGT angiotensinogen gene DOID:1287 cardiovascular system disease ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16544732 12275117 AGT angiotensinogen gene DOID:1287 cardiovascular system disease no_association ISO RGD:731070 D RGD:9068941 20200609 RGD PMID:8523390|REF_RGD_ID:1566492 12275117 AGT angiotensinogen gene DOID:12930 dilated cardiomyopathy no_association ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.T174M, p.M235T (human) PMID:9270088|REF_RGD_ID:1566491 12275117 AGT angiotensinogen gene DOID:12930 dilated cardiomyopathy treatment ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:22120037|REF_RGD_ID:8549486 12275117 AGT angiotensinogen gene DOID:12932 endomyocardial fibrosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20837116|PMID:25139994|PMID:25488910|PMID:27099261|PMID:30703374 12275117 AGT angiotensinogen gene DOID:12935 alcoholic cardiomyopathy ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22497828 12275117 AGT angiotensinogen gene DOID:13025 retinopathy of prematurity ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15387897 12275117 AGT angiotensinogen gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:21357516|REF_RGD_ID:5129175 12275117 AGT angiotensinogen gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19858406 12275117 AGT angiotensinogen gene DOID:13580 cholestasis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12275117 AGT angiotensinogen gene DOID:13884 sick sinus syndrome ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-6G>A (human) PMID:22242192|REF_RGD_ID:8548870 12275117 AGT angiotensinogen gene DOID:13994 cleidocranial dysplasia ISO RGD:731070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Large fontanelles PMID:25741868|PMID:35005812 12275117 AGT angiotensinogen gene DOID:14499 Fabry disease severity ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: PMID:24020479|REF_RGD_ID:13432161 12275117 AGT angiotensinogen gene DOID:1540 parathyroid carcinoma ISO RGD:731070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12275117 AGT angiotensinogen gene DOID:1561 cognitive disorder ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22982863 12275117 AGT angiotensinogen gene DOID:1580 diffuse scleroderma ISO RGD:731070 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14730619|REF_RGD_ID:8548886 12275117 AGT angiotensinogen gene DOID:1612 breast cancer ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes: :p.T174M, p.M235T (human) PMID:23828384|REF_RGD_ID:8548866 12275117 AGT angiotensinogen gene DOID:1612 breast cancer ISO RGD:731070 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:23374911|REF_RGD_ID:8548901 12275117 AGT angiotensinogen gene DOID:1612 breast cancer susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M235T (human) PMID:16823505|REF_RGD_ID:8548861 12275117 AGT angiotensinogen gene DOID:178 vascular disease ISO RGD:731070 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:29706566 12275117 AGT angiotensinogen gene DOID:1875 impotence treatment ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:17616753|REF_RGD_ID:8548892 12275117 AGT angiotensinogen gene DOID:1936 atherosclerosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21925196|PMID:22539767 12275117 AGT angiotensinogen gene DOID:1936 atherosclerosis treatment ISO RGD:2069 D RGD:9068941 20200609 RGD associated with Hypertension PMID:22977667|REF_RGD_ID:8549467 12275117 AGT angiotensinogen gene DOID:2018 hyperinsulinism ISO RGD:731070 D RGD:9068941 20200609 RGD associated with obesity;DNA:polymorphism: :p.M235T PMID:16713443|REF_RGD_ID:1601142 12275117 AGT angiotensinogen gene DOID:224 transient cerebral ischemia ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:21934531|REF_RGD_ID:8549480 12275117 AGT angiotensinogen gene DOID:2355 anemia ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3524928 12275117 AGT angiotensinogen gene DOID:2377 multiple sclerosis ISO RGD:731070 D RGD:9068941 20200609 RGD protein:decreased expression:brain,astrocyte: PMID:17715340|REF_RGD_ID:13432361 12275117 AGT angiotensinogen gene DOID:2527 nephrosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2046802 12275117 AGT angiotensinogen gene DOID:2921 glomerulonephritis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11459117 12275117 AGT angiotensinogen gene DOID:2921 glomerulonephritis disease_progression ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:15888567|REF_RGD_ID:13432360 12275117 AGT angiotensinogen gene DOID:2983 anuria ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8527259 12275117 AGT angiotensinogen gene DOID:2986 IgA glomerulonephritis ISO RGD:731070 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Susceptibility to progression to renal failure in IgA nephropathy PMID:1394429|PMID:16059745|PMID:25741868|PMID:28492532|PMID:7649545|PMID:7883995|PMID:8348146|PMID:8513325|PMID:8518804|PMID:9259580|PMID:9421481|PMID:9831339 12275117 AGT angiotensinogen gene DOID:3328 temporal lobe epilepsy ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:22542773|REF_RGD_ID:8549466 12275117 AGT angiotensinogen gene DOID:3407 carotid artery disease ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12911327 12275117 AGT angiotensinogen gene DOID:3407 carotid artery disease susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M235T PMID:17220293|REF_RGD_ID:1601136 12275117 AGT angiotensinogen gene DOID:3525 middle cerebral artery infarction ISO RGD:2069 D RGD:9068941 20200609 RGD protein:increased expression:brain, serum PMID:24090950|REF_RGD_ID:9685436 12275117 AGT angiotensinogen gene DOID:3627 aortic aneurysm ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21925196 12275117 AGT angiotensinogen gene DOID:3770 pulmonary fibrosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28960804|PMID:31181250 12275117 AGT angiotensinogen gene DOID:3770 pulmonary fibrosis treatment ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:24168260|REF_RGD_ID:11039408 12275117 AGT angiotensinogen gene DOID:418 systemic scleroderma ISO RGD:731070 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:17360781|REF_RGD_ID:8548889 12275117 AGT angiotensinogen gene DOID:4500 hypokalemia ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7182184 12275117 AGT angiotensinogen gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:2069 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, plasma PMID:7550093|REF_RGD_ID:11039051 12275117 AGT angiotensinogen gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:2069 D RGD:9068941 20200609 RGD protein:increased expression:kidney, urine PMID:21282555|REF_RGD_ID:5129185 12275117 AGT angiotensinogen gene DOID:5082 liver cirrhosis ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:21873937|REF_RGD_ID:8549465 12275117 AGT angiotensinogen gene DOID:5082 liver cirrhosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15613622 12275117 AGT angiotensinogen gene DOID:5199 ureteral obstruction ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26207612 12275117 AGT angiotensinogen gene DOID:552 pneumonia ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28960804 12275117 AGT angiotensinogen gene DOID:557 kidney disease ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12414515|PMID:15213268|PMID:17989111|PMID:21896938|PMID:31098697 12275117 AGT angiotensinogen gene DOID:576 proteinuria ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12937228|PMID:17890855|PMID:2046802|PMID:25398788|PMID:464098|PMID:9259580 12275117 AGT angiotensinogen gene DOID:5844 myocardial infarction ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:21167013|REF_RGD_ID:5129191 12275117 AGT angiotensinogen gene DOID:5844 myocardial infarction ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16413583|PMID:1668233 12275117 AGT angiotensinogen gene DOID:5844 myocardial infarction ISO RGD:731070 D RGD:9068941 20200609 RGD associated with Coronary Artery Disease;DNA:polymorphism: :p.M235T (human) PMID:11393670|REF_RGD_ID:1566452 12275117 AGT angiotensinogen gene DOID:5844 myocardial infarction susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphism: :p.M235T PMID:17299437|REF_RGD_ID:1601132 12275117 AGT angiotensinogen gene DOID:6000 congestive heart failure ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12025466|PMID:1330361|PMID:20811386 12275117 AGT angiotensinogen gene DOID:6000 congestive heart failure onset ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.M235T, p.T174M (human) PMID:17145981|REF_RGD_ID:1601140 12275117 AGT angiotensinogen gene DOID:6000 congestive heart failure severity ISO RGD:731070 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:24465706|REF_RGD_ID:11039412 12275117 AGT angiotensinogen gene DOID:6000 congestive heart failure treatment ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:21963897|REF_RGD_ID:8549482 12275117 AGT angiotensinogen gene DOID:630 genetic disease ISO RGD:731070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275117 AGT angiotensinogen gene DOID:6432 pulmonary hypertension ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:21381494|REF_RGD_ID:5129162 12275117 AGT angiotensinogen gene DOID:6713 cerebrovascular disease susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M235T PMID:17220293|REF_RGD_ID:1601136 12275117 AGT angiotensinogen gene DOID:7693 abdominal aortic aneurysm ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16514081|PMID:20937366|PMID:22539767|PMID:25301841|PMID:30354818 12275117 AGT angiotensinogen gene DOID:8552 chronic myeloid leukemia ISO RGD:731070 D RGD:9068941 20200609 RGD PMID:19761684|REF_RGD_ID:11039056 12275117 AGT angiotensinogen gene DOID:8778 Crohn's disease ISO RGD:731070 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Crohn disease, association with PMID:12743009|PMID:13937884|PMID:15077204|PMID:17047091|PMID:20978123|PMID:9120024|PMID:9894356 12275117 AGT angiotensinogen gene DOID:8805 intermediate coronary syndrome ISO RGD:731070 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium PMID:11451295|REF_RGD_ID:8548894 12275117 AGT angiotensinogen gene DOID:8923 skin melanoma ISO RGD:731070 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19394758|REF_RGD_ID:8548874 12275117 AGT angiotensinogen gene DOID:8947 diabetic retinopathy ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15387897 12275117 AGT angiotensinogen gene DOID:8947 diabetic retinopathy ISO RGD:731070 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphism: :p.M235T (human) PMID:10862638|REF_RGD_ID:8548872 12275117 AGT angiotensinogen gene DOID:8947 diabetic retinopathy treatment ISO RGD:10118 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21792177|REF_RGD_ID:8548900 12275117 AGT angiotensinogen gene DOID:8947 diabetic retinopathy treatment ISO RGD:2069 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21792177|REF_RGD_ID:8548900 12275117 AGT angiotensinogen gene DOID:9000040 Hypertrophy ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12054679|PMID:12237323|PMID:18785976|PMID:21071431|PMID:24039778|PMID:26955731 12275117 AGT angiotensinogen gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1654493|PMID:2535056 12275117 AGT angiotensinogen gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:2069 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:type I cell of carotid body PMID:24036592|REF_RGD_ID:11039031 12275117 AGT angiotensinogen gene DOID:9000784 Fibrosis ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:21367774|REF_RGD_ID:5129174 12275117 AGT angiotensinogen gene DOID:9000784 Fibrosis ISO RGD:731070 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:12414515|PMID:18785976|PMID:19373235|PMID:25398788|PMID:25807386|PMID:26648693|PMID:30634441|PMID:33676887 12275117 AGT angiotensinogen gene DOID:9000815 Aortic Calcification ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:23291307|REF_RGD_ID:8549476 12275117 AGT angiotensinogen gene DOID:9001189 Drug Overdose ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8527259 12275117 AGT angiotensinogen gene DOID:9001542 Albuminuria ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12414515|PMID:18679781|PMID:21896938 12275117 AGT angiotensinogen gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12667390 12275117 AGT angiotensinogen gene DOID:9001650 Pregnancy-Induced Hypertension ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:17977916|REF_RGD_ID:8548898 12275117 AGT angiotensinogen gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24688123|PMID:29353218|PMID:30703374 12275117 AGT angiotensinogen gene DOID:9002165 Diabetic Nephropathies ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17890855|PMID:20383342 12275117 AGT angiotensinogen gene DOID:9002165 Diabetic Nephropathies ISO RGD:731070 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphism: :p.M235T (human) PMID:10862638|PMID:8772723|REF_RGD_ID:8548868|REF_RGD_ID:8548872 12275117 AGT angiotensinogen gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:731070 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism: :p.M235T (human) PMID:19014923|REF_RGD_ID:11039058 12275117 AGT angiotensinogen gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:731070 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism: :p.M235T (human) PMID:11938025|REF_RGD_ID:8548885 12275117 AGT angiotensinogen gene DOID:9002211 Hyperalgesia ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9613798 12275117 AGT angiotensinogen gene DOID:9002231 Fetal Growth Retardation ISO RGD:2069 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney,urine: PMID:26270574|REF_RGD_ID:11538508 12275117 AGT angiotensinogen gene DOID:9002231 Fetal Growth Retardation ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17537837 12275117 AGT angiotensinogen gene DOID:9002231 Fetal Growth Retardation ISO RGD:731070 D RGD:9068941 20200609 RGD PMID:20530295|REF_RGD_ID:13432363 12275117 AGT angiotensinogen gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26954031 12275117 AGT angiotensinogen gene DOID:9002371 Cardiotoxicity ISO RGD:731070 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33676887 12275117 AGT angiotensinogen gene DOID:9002514 Neointima ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19258495|PMID:29609002 12275117 AGT angiotensinogen gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25807386 12275117 AGT angiotensinogen gene DOID:9003191 Vascular Malformations ISO RGD:731070 D RGD:9068941 20221111 RGD protein:increased expression:intestine: PMID:24219762|REF_RGD_ID:155663361 12275117 AGT angiotensinogen gene DOID:9003191 Vascular Malformations ISO RGD:731070 D RGD:9068941 20221111 RGD protein:increased expression:serum: PMID:21955427|REF_RGD_ID:155663363 12275117 AGT angiotensinogen gene DOID:9003234 Hypertensive Nephropathy treatment ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:22089474|REF_RGD_ID:8548895 12275117 AGT angiotensinogen gene DOID:9003805 Catalepsy ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1034924 12275117 AGT angiotensinogen gene DOID:9003936 Cardiomegaly ISO RGD:10118 D RGD:9068941 20200609 RGD PMID:19779471|REF_RGD_ID:8548902 12275117 AGT angiotensinogen gene DOID:9003936 Cardiomegaly ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:21367774|PMID:24342267|REF_RGD_ID:11039415|REF_RGD_ID:5129174 12275117 AGT angiotensinogen gene DOID:9003936 Cardiomegaly ISO RGD:731070 D RGD:9068941 20221208 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11403367|PMID:15226216|PMID:15851630|PMID:15870116|PMID:17124262|PMID:18400235|PMID:19794523|PMID:20190099|PMID:20409916|PMID:20429690|PMID:20616315|PMID:20811386|PMID:22291909|PMID:22335191|PMID:24342267|PMID:25139994|PMID:25488910|PMID:27099261|PMID:29353218|PMID:30634441|PMID:30703374|PMID:31016362|PMID:35510648 12275117 AGT angiotensinogen gene DOID:9003936 Cardiomegaly treatment ISO RGD:10118 D RGD:9068941 20221111 RGD PMID:23188126|REF_RGD_ID:155663352 12275117 AGT angiotensinogen gene DOID:9004009 Reperfusion Injury ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23875703 12275117 AGT angiotensinogen gene DOID:9004306 Peptic Ulcer Hemorrhage ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20824505 12275117 AGT angiotensinogen gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10805403|PMID:14644620|PMID:14751847|PMID:18679781|PMID:20837116|PMID:24688123|PMID:31016362 12275117 AGT angiotensinogen gene DOID:9004771 Vascular Remodeling ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25259750|PMID:27678262 12275117 AGT angiotensinogen gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:10118 D RGD:9068941 20200609 RGD PMID:20837666|REF_RGD_ID:5129167 12275117 AGT angiotensinogen gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:20837666|REF_RGD_ID:5129167 12275117 AGT angiotensinogen gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:731070 D RGD:9068941 20200609 RGD PMID:20837666|REF_RGD_ID:5129167 12275117 AGT angiotensinogen gene DOID:9005372 Inflammation ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15944212|PMID:16868307|PMID:27436852|PMID:29353218 12275117 AGT angiotensinogen gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15831366|PMID:17177138|PMID:18829990 12275117 AGT angiotensinogen gene DOID:9005749 Necrosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606818|PMID:1535655 12275117 AGT angiotensinogen gene DOID:9006024 Hypotension ISO RGD:10118 D RGD:9068941 20200609 RGD PMID:9466969|REF_RGD_ID:737778 12275117 AGT angiotensinogen gene DOID:9006024 Hypotension ISO RGD:731070 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:30634441|PMID:3078272|PMID:8527259|PMID:9323291 12275117 AGT angiotensinogen gene DOID:9006045 Dissecting Aneurysm ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17502491 12275117 AGT angiotensinogen gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:731070 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Renal tubular dysgenesis PMID:11770813|PMID:12743009|PMID:13937884|PMID:1394429|PMID:15077204|PMID:16059745|PMID:16116425|PMID:17036344|PMID:17047091|PMID:20978123|PMID:22095942|PMID:23497386|PMID:24452034|PMID:25278896|PMID:25741868|PMID:28492532|PMID:7607642|PMID:7649545|PMID:7744780|PMID:7883995|PMID:8348146|PMID:8513325|PMID:8518804|PMID:9120024|PMID:9259580|PMID:9403548|PMID:9421481|PMID:9831339|PMID:9894356 12275117 AGT angiotensinogen gene DOID:9006646 Metabolic Syndrome ISO RGD:2069 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:adipose tissue PMID:17260464|REF_RGD_ID:1601134 12275117 AGT angiotensinogen gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:8446257|REF_RGD_ID:11039400 12275117 AGT angiotensinogen gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29353218 12275117 AGT angiotensinogen gene DOID:9007001 Bradycardia ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9519251 12275117 AGT angiotensinogen gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:731070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 12275117 AGT angiotensinogen gene DOID:9007096 Stroke susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphism: :p.M235T PMID:17299437|REF_RGD_ID:1601132 12275117 AGT angiotensinogen gene DOID:9007096 Stroke susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD associated with sickle cell anemia;DNA:repeat:exon: PMID:11754397|REF_RGD_ID:11039048 12275117 AGT angiotensinogen gene DOID:9007102 Myocardial Ischemia ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16775501 12275117 AGT angiotensinogen gene DOID:9007174 Ventricular Remodeling ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29353218 12275117 AGT angiotensinogen gene DOID:9007278 Anaphylaxis ISO RGD:731070 D RGD:9068941 20200609 RGD PMID:1422942|REF_RGD_ID:8548893 12275117 AGT angiotensinogen gene DOID:9007331 Alkalosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7182184 12275117 AGT angiotensinogen gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29499335 12275117 AGT angiotensinogen gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:2069 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15001561|REF_RGD_ID:13515113 12275117 AGT angiotensinogen gene DOID:9007820 Sudden Death ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17502491 12275117 AGT angiotensinogen gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19166939|PMID:2535056 12275117 AGT angiotensinogen gene DOID:9007908 Aortic Coarctation treatment ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.704T>C (human) PMID:21450583|REF_RGD_ID:13432358 12275117 AGT angiotensinogen gene DOID:9008217 Hemorrhage ISO RGD:731070 D RGD:9068941 20200609 RGD associated with Premature Birth;DNA:polymorphism:promoter:-6G>A (human) PMID:19733287|REF_RGD_ID:11039046 12275117 AGT angiotensinogen gene DOID:9009039 Hyperemia ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15815331 12275117 AGT angiotensinogen gene DOID:9009073 Diaphragmatic Hernia ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16292651 12275117 AGT angiotensinogen gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12275117 AGT angiotensinogen gene DOID:9279 hyperhomocysteinemia ISO RGD:731070 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:24386282 12275117 AGT angiotensinogen gene DOID:9352 type 2 diabetes mellitus ISO RGD:731070 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:smooth muscle cell, carotid artery PMID:17170378|REF_RGD_ID:1601138 12275117 AGT angiotensinogen gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.T174M, p.M235T (human) PMID:9258285|REF_RGD_ID:8548863 12275117 AGT angiotensinogen gene DOID:988 mitral valve prolapse severity ISO RGD:731070 D RGD:9068941 20200609 RGD associated with Marfan Syndrome;DNA:haplotype:cds: p.M235T(human) PMID:17379330|REF_RGD_ID:13432357 12275117 AGT angiotensinogen gene DOID:9970 obesity ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M235T PMID:16713443|REF_RGD_ID:1601142 12275117 AGT angiotensinogen gene DOID:9970 obesity susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.T174M PMID:16514903|REF_RGD_ID:1601143 12275126 APOF apolipoprotein F gene DOID:630 genetic disease ISO RGD:1344329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275126 APOF apolipoprotein F gene DOID:684 hepatocellular carcinoma ISO RGD:1344329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12275137 MED23 mediator complex subunit 23 gene DOID:0081190 autosomal recessive intellectual developmental disorder 18 ISO RGD:1316995 D RGD:7240710 20180130 OMIM 12275137 MED23 mediator complex subunit 23 gene DOID:0081190 autosomal recessive intellectual developmental disorder 18 ISO RGD:1316995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 18 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 18, WITH OR WITHOUT EPILEPSY PMID:21868677|PMID:25741868|PMID:25845469|PMID:27311965|PMID:28492532|PMID:30171209|PMID:30847200|PMID:31164858 12275137 MED23 mediator complex subunit 23 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1316995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 12275137 MED23 mediator complex subunit 23 gene DOID:1059 intellectual disability ISO RGD:1316995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:25741868 12275137 MED23 mediator complex subunit 23 gene DOID:630 genetic disease ISO RGD:1316995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10502833|PMID:12052859|PMID:21802329|PMID:25741868|PMID:28492532|PMID:29726057|PMID:31164858|PMID:7649538 12275137 MED23 mediator complex subunit 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12275137 MED23 mediator complex subunit 23 gene DOID:9278 hyperargininemia ISO RGD:1316995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arginase deficiency | ClinVar Annotator: match by term: Argininemia PMID:10502833|PMID:11883902|PMID:12052859|PMID:1463019|PMID:15565656|PMID:1598908|PMID:16199547|PMID:17576681|PMID:18666241|PMID:18957279|PMID:19052914|PMID:19562505|PMID:19936428|PMID:21310339|PMID:21802329|PMID:22959135|PMID:22964440|PMID:2365823|PMID:23859858|PMID:24103480|PMID:24482476|PMID:24814679|PMID:25741868|PMID:26169240|PMID:27038030|PMID:27898091|PMID:28089752|PMID:28492532|PMID:29726057|PMID:30285816|PMID:31130284|PMID:32450233|PMID:32778825|PMID:33193012|PMID:624188|PMID:7649538|PMID:7981719|PMID:8902193|PMID:9536098 12275173 SF3B2 splicing factor 3b subunit 2 gene DOID:0050902 medulloblastoma ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:26619011 12275173 SF3B2 splicing factor 3b subunit 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:26619011 12275173 SF3B2 splicing factor 3b subunit 2 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 12275173 SF3B2 splicing factor 3b subunit 2 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1316185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:26619011 12275173 SF3B2 splicing factor 3b subunit 2 gene DOID:1059 intellectual disability ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12275173 SF3B2 splicing factor 3b subunit 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1316185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12275173 SF3B2 splicing factor 3b subunit 2 gene DOID:2746 glycogen storage disease V ISO RGD:1316185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12275173 SF3B2 splicing factor 3b subunit 2 gene DOID:2907 Goldenhar syndrome ISO RGD:1316185 D RGD:7240710 20220316 OMIM 12275173 SF3B2 splicing factor 3b subunit 2 gene DOID:2907 Goldenhar syndrome ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniofacial microsomia PMID:34344887|PMID:7811205 12275173 SF3B2 splicing factor 3b subunit 2 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:26619011 12275173 SF3B2 splicing factor 3b subunit 2 gene DOID:4450 renal cell carcinoma ISO RGD:1316185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:26619011 12275173 SF3B2 splicing factor 3b subunit 2 gene DOID:630 genetic disease ISO RGD:1316185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275173 SF3B2 splicing factor 3b subunit 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:26619011 12275173 SF3B2 splicing factor 3b subunit 2 gene DOID:8923 skin melanoma ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:26619011 12275173 SF3B2 splicing factor 3b subunit 2 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:26619011 12275173 SF3B2 splicing factor 3b subunit 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1316185 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12275173 SF3B2 splicing factor 3b subunit 2 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1316185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:26619011 12275173 SF3B2 splicing factor 3b subunit 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1316185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12275173 SF3B2 splicing factor 3b subunit 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:26619011 12275173 SF3B2 splicing factor 3b subunit 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:26619011 12275203 GRTP1 growth hormone regulated TBC protein 1 gene DOID:2222 factor X deficiency ISO RGD:1319426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12275203 GRTP1 growth hormone regulated TBC protein 1 gene DOID:630 genetic disease ISO RGD:1319426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275215 TMEM128 transmembrane protein 128 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1602670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12275215 TMEM128 transmembrane protein 128 gene DOID:630 genetic disease ISO RGD:1602670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275227 FDPS farnesyl diphosphate synthase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:69022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12275227 FDPS farnesyl diphosphate synthase gene DOID:0111940 immunodeficiency 42 ISO RGD:69022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12275227 FDPS farnesyl diphosphate synthase gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:69022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12275227 FDPS farnesyl diphosphate synthase gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:69022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12275227 FDPS farnesyl diphosphate synthase gene DOID:1540 parathyroid carcinoma ISO RGD:69022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12275227 FDPS farnesyl diphosphate synthase gene DOID:5812 MHC class II deficiency ISO RGD:69022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12275227 FDPS farnesyl diphosphate synthase gene DOID:630 genetic disease ISO RGD:69022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275227 FDPS farnesyl diphosphate synthase gene DOID:9003076 Porokeratosis 9, Multiple Types ISO RGD:69022 D RGD:7240710 20180130 OMIM 12275227 FDPS farnesyl diphosphate synthase gene DOID:9003076 Porokeratosis 9, Multiple Types ISO RGD:69022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Porokeratosis 9, multiple types PMID:26202976 12275227 FDPS farnesyl diphosphate synthase gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:69022 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31774873 12275227 FDPS farnesyl diphosphate synthase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:69022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12275265 SETX senataxin gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1347866 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868 12275265 SETX senataxin gene DOID:0050753 cerebellar ataxia ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25558065|PMID:26467025 12275265 SETX senataxin gene DOID:0050754 ataxia with oculomotor apraxia type 1 ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia PMID:32488064 12275265 SETX senataxin gene DOID:0050755 ataxia with oculomotor apraxia type 2 ISO RGD:1347866 D RGD:7240710 20180130 OMIM 12275265 SETX senataxin gene DOID:0050755 ataxia with oculomotor apraxia type 2 ISO RGD:1347866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 PMID:14770181|PMID:15732101|PMID:17159128|PMID:17576681|PMID:17720498|PMID:18058631|PMID:18414213|PMID:18625865|PMID:19569000|PMID:19696032|PMID:20540686|PMID:20981092|PMID:21190393|PMID:22088787|PMID:23129421|PMID:23757202|PMID:23806086|PMID:23881933|PMID:23941260|PMID:24033266|PMID:24088041|PMID:24760770|PMID:24814856|PMID:25025039|PMID:25116135|PMID:25174650|PMID:25182519|PMID:25299611|PMID:25326635|PMID:25382069|PMID:25525159|PMID:25741868|PMID:25802885|PMID:26257172|PMID:26467025|PMID:26601740|PMID:26633545|PMID:27013921|PMID:27790088|PMID:28130640|PMID:28245518|PMID:28492532|PMID:28642336|PMID:28832565|PMID:29411640|PMID:29482223|PMID:29650794|PMID:30198223|PMID:30564185|PMID:31589614|PMID:31692161|PMID:31957062|PMID:32253937|PMID:32397312|PMID:33098801|PMID:9536098 12275265 SETX senataxin gene DOID:0050952 spastic ataxia ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:26467025|PMID:28492532|PMID:28708278 12275265 SETX senataxin gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant PMID:23757202|PMID:25741868|PMID:28492532 12275265 SETX senataxin gene DOID:0060196 juvenile amyotrophic lateral sclerosis 4 ISO RGD:1347866 D RGD:7240710 20180130 OMIM 12275265 SETX senataxin gene DOID:0060196 juvenile amyotrophic lateral sclerosis 4 ISO RGD:1347866 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 4 PMID:14770181|PMID:15106121|PMID:16199547|PMID:17096168|PMID:17159128|PMID:17576681|PMID:18058631|PMID:19569000|PMID:19696032|PMID:19744353|PMID:20540686|PMID:20981092|PMID:21190393|PMID:21438761|PMID:21576111|PMID:22088787|PMID:22995991|PMID:23111195|PMID:23129421|PMID:23566282|PMID:23757202|PMID:23881933|PMID:23941260|PMID:24030952|PMID:24033266|PMID:24105744|PMID:24108619|PMID:24244371|PMID:24760770|PMID:25025039|PMID:25116135|PMID:25174650|PMID:25182519|PMID:25299611|PMID:25353622|PMID:25382069|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25927548|PMID:26467025|PMID:26601740|PMID:26752306|PMID:27013921|PMID:27422356|PMID:27790088|PMID:28130640|PMID:28492532|PMID:28642336|PMID:28708278|PMID:28832565|PMID:29411640|PMID:29650794|PMID:30220148|PMID:30564185|PMID:30642639|PMID:30778698|PMID:31325016|PMID:31429931|PMID:31432357|PMID:31656689|PMID:31692161|PMID:31957062|PMID:32028661|PMID:32166880|PMID:32186211|PMID:32253937|PMID:32397312|PMID:33098801|PMID:33956305|PMID:34565360|PMID:9497266|PMID:9536098 12275265 SETX senataxin gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1347866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12275265 SETX senataxin gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1347866 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12275265 SETX senataxin gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1347866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12275265 SETX senataxin gene DOID:0081097 Rafiq syndrome ISO RGD:1347866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12275265 SETX senataxin gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy PMID:19696032|PMID:22088787|PMID:25741868|PMID:26467025|PMID:28492532 12275265 SETX senataxin gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:24533459 12275265 SETX senataxin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1347866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:15732101|PMID:16717225|PMID:19696032|PMID:25025039|PMID:25741868|PMID:25802885|PMID:26467025|PMID:28492532 12275265 SETX senataxin gene DOID:12377 spinal muscular atrophy ISO RGD:1347866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Proximal spinal muscular atrophy PMID:15106121|PMID:21438761|PMID:21576111|PMID:22088787|PMID:24105744|PMID:24244371|PMID:25741868|PMID:28492532|PMID:9497266 12275265 SETX senataxin gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12275265 SETX senataxin gene DOID:1969 cerebral palsy ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:18414213|PMID:24088041|PMID:25741868|PMID:26633545 12275265 SETX senataxin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347866 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:17096168|PMID:17159128|PMID:17576681|PMID:18058631|PMID:19569000|PMID:19696032|PMID:20981092|PMID:21190393|PMID:22088787|PMID:22995991|PMID:23129421|PMID:23881933|PMID:23941260|PMID:25174650|PMID:25382069|PMID:25741868|PMID:26467025|PMID:27013921|PMID:27790088|PMID:28130640|PMID:28492532|PMID:28642336|PMID:28832565|PMID:29411640|PMID:31957062|PMID:32253937|PMID:9536098 12275265 SETX senataxin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347866 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17096168|PMID:17159128|PMID:17576681|PMID:18058631|PMID:19569000|PMID:19696032|PMID:20981092|PMID:21190393|PMID:22088787|PMID:22995991|PMID:23129421|PMID:23881933|PMID:23941260|PMID:25174650|PMID:25382069|PMID:25741868|PMID:26467025|PMID:27013921|PMID:27790088|PMID:28130640|PMID:28492532|PMID:28642336|PMID:28832565|PMID:29411640|PMID:29650794|PMID:31957062|PMID:32253937|PMID:9536098 12275265 SETX senataxin gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1347866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:18058631|PMID:23129421|PMID:23881933|PMID:25741868|PMID:26467025|PMID:27790088|PMID:28492532|PMID:28832565|PMID:32253937 12275265 SETX senataxin gene DOID:3320 Tay-Sachs disease ISO RGD:1347866 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:25741868|PMID:28492532 12275265 SETX senataxin gene DOID:3652 Leigh disease ISO RGD:1347866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12275265 SETX senataxin gene DOID:543 dystonia ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:28492532 12275265 SETX senataxin gene DOID:607 paraplegia ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:17159128|PMID:19569000|PMID:20981092|PMID:23941260|PMID:25741868|PMID:26467025|PMID:28492532 12275265 SETX senataxin gene DOID:630 genetic disease ISO RGD:1347866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14770181|PMID:15732101|PMID:16644229|PMID:17159128|PMID:17576681|PMID:17720498|PMID:18058631|PMID:19569000|PMID:23129421|PMID:23881933|PMID:25025039|PMID:25174650|PMID:25182519|PMID:25299611|PMID:25353622|PMID:25382069|PMID:25525159|PMID:25741868|PMID:25802885|PMID:26467025|PMID:26752306|PMID:27013921|PMID:27790088|PMID:28245518|PMID:28492532|PMID:28642336|PMID:28708278|PMID:28832565|PMID:29170628|PMID:29411640|PMID:29650794|PMID:30220148|PMID:30564185|PMID:31069529|PMID:31429931|PMID:31589614|PMID:31692161|PMID:31957062|PMID:32028661|PMID:32166880|PMID:32186211|PMID:32253937|PMID:32397312|PMID:9536098 12275265 SETX senataxin gene DOID:9255 frontotemporal dementia ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:26467025|PMID:28492532 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0050777 Joubert syndrome ISO RGD:1348587 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:11179005|PMID:12595504|PMID:16199547|PMID:16311594|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:23033313|PMID:24476948|PMID:24884629|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28492532|PMID:9536098 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0050777 Joubert syndrome ISO RGD:1348587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:11179005|PMID:11349230|PMID:12595504|PMID:16199547|PMID:16311594|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:19800048|PMID:22353940|PMID:23033313|PMID:24476948|PMID:24884629|PMID:25674159|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28289185|PMID:28371265|PMID:28492532|PMID:30401917|PMID:35112477|PMID:9536098 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0060316 orofaciodigital syndrome I ISO RGD:1348587 D RGD:7240710 20180130 OMIM 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0060316 orofaciodigital syndrome I ISO RGD:1348587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oral-Facial-Digital Syndrome Type I | ClinVar Annotator: match by term: Oral-facial-digital syndrome type 1 | ClinVar Annotator: match by term: Orofaciodigital syndrome I PMID:11179005|PMID:11950863|PMID:12595504|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:23033313|PMID:24884629|PMID:25741868|PMID:26275793|PMID:26467025|PMID:27081566|PMID:28492532|PMID:28973083|PMID:9198060|PMID:9482645|PMID:9536098 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0060373 orofaciodigital syndrome III ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome III 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0080205 CAKUT ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:28492532 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0080342 Simpson-Golabi-Behmel syndrome type 2 ISO RGD:1348587 D RGD:7240710 20180130 OMIM 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0080342 Simpson-Golabi-Behmel syndrome type 2 ISO RGD:1348587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 2 PMID:11179005|PMID:12595504|PMID:16783569|PMID:19800048|PMID:22353940|PMID:23033313|PMID:25741868|PMID:28492532|PMID:30401917|PMID:33847015|PMID:35112477 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0080362 X-linked spondyloepiphyseal dysplasia tarda ISO RGD:1348587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda, X-linked PMID:11326333|PMID:11349230|PMID:15221797|PMID:17576681|PMID:22563562|PMID:25741868|PMID:26252088|PMID:28492532|PMID:9536098 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0080918 polymicrogyria ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:25741868 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0110412 retinitis pigmentosa 23 ISO RGD:1348587 D RGD:7240710 20180130 OMIM 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0110412 retinitis pigmentosa 23 ISO RGD:1348587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 23 PMID:10892847|PMID:22619378|PMID:25741868|PMID:28492532|PMID:35112477 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1348587 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:10999831|PMID:25741868|PMID:9990351 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0110980 Joubert syndrome 1 ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:11179005|PMID:12595504|PMID:16199547|PMID:16311594|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:23033313|PMID:24476948|PMID:24884629|PMID:25741868|PMID:26092869|PMID:26467025|PMID:27081566|PMID:28289185|PMID:28492532|PMID:9536098 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0110980 Joubert syndrome 1 ISO RGD:1348587 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16783569|PMID:18546297|PMID:25741868|PMID:27081566|PMID:28492532 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0110981 Joubert syndrome 10 ISO RGD:1348587 D RGD:7240710 20180130 OMIM 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0110981 Joubert syndrome 10 ISO RGD:1348587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome 10 PMID:16783569|PMID:18546297|PMID:19800048|PMID:22353940|PMID:23033313|PMID:24884629|PMID:25741868|PMID:26092869|PMID:27081566|PMID:28492532|PMID:30401917|PMID:35112477 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0111589 COACH syndrome ISO RGD:1348587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COACH syndrome PMID:16783569|PMID:18546297|PMID:27081566|PMID:28492532 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0111783 otopalatodigital syndrome type 1 ISO RGD:1348587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16783569 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:0112284 spondyloepiphyseal dysplasia tarda ISO RGD:1348587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda PMID:10431248|PMID:10999831|PMID:11326333|PMID:11424925|PMID:12919139|PMID:15221797|PMID:17576681|PMID:18414213|PMID:22563562|PMID:23656395|PMID:25741868|PMID:26252088|PMID:28492532|PMID:9536098|PMID:9990351 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:10584 retinitis pigmentosa ISO RGD:1348587 D RGD:9068941 20200609 RGD DNA, mRNA:frameshift mutation, splice variant:IVS9+706A>G (human) PMID:22619378|REF_RGD_ID:11535961 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:1059 intellectual disability ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:12849 autistic disorder ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:630 genetic disease ISO RGD:1348587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11326333|PMID:15221797|PMID:17576681|PMID:22563562|PMID:25741868|PMID:26252088|PMID:28492532|PMID:9536098 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:65 connective tissue disease ISO RGD:1348587 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:11424925|PMID:25741868 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:8466 retinal degeneration ISO RGD:1562231 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:retina PMID:27196396|REF_RGD_ID:11535964 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:8501 fundus dystrophy ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 PMID:25741868 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:9007284 Precocious Puberty ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral precocious puberty 12275308 OFD1 OFD1 centriole and centriolar satellite protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:1348587 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:11179005|PMID:12595504|PMID:18414213|PMID:25741868|PMID:26467025|PMID:26477546|PMID:28492532|PMID:31373179 12275345 PVALB parvalbumin gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:735961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12275345 PVALB parvalbumin gene DOID:0090036 myoclonic dystonia 26 ISO RGD:735961 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12275345 PVALB parvalbumin gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:735961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12275345 PVALB parvalbumin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12275345 PVALB parvalbumin gene DOID:2468 psychotic disorder ISO RGD:735961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12275345 PVALB parvalbumin gene DOID:3312 bipolar disorder ISO RGD:735961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12275345 PVALB parvalbumin gene DOID:4450 renal cell carcinoma ISO RGD:735961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16927643 12275345 PVALB parvalbumin gene DOID:5389 oxyphilic adenoma ISO RGD:735961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16927643 12275345 PVALB parvalbumin gene DOID:5419 schizophrenia ISO RGD:735961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12275345 PVALB parvalbumin gene DOID:630 genetic disease ISO RGD:735961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275380 MAP9 microtubule associated protein 9 gene DOID:630 genetic disease ISO RGD:1605620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275409 RTN2 reticulon 2 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1351891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532 12275409 RTN2 reticulon 2 gene DOID:0110765 hereditary spastic paraplegia 12 ISO RGD:1351891 D RGD:7240710 20180404 OMIM 12275409 RTN2 reticulon 2 gene DOID:0110765 hereditary spastic paraplegia 12 ISO RGD:1351891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 12 PMID:10677333|PMID:12427890|PMID:22232211|PMID:25741868|PMID:26467025|PMID:27165006|PMID:28492532 12275409 RTN2 reticulon 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1351891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 12275409 RTN2 reticulon 2 gene DOID:607 paraplegia ISO RGD:1351891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:22232211|PMID:25741868|PMID:26467025|PMID:27165006|PMID:28166811|PMID:28492532|PMID:9536098 12275409 RTN2 reticulon 2 gene DOID:630 genetic disease ISO RGD:1351891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12275409 RTN2 reticulon 2 gene DOID:9005668 Dental Medial Diastema ISO RGD:1351891 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diastema, dental medial PMID:25741868|PMID:26467025|PMID:28492532 12275420 KY kyphoscoliosis peptidase gene DOID:0080098 myofibrillar myopathy 7 ISO RGD:1313421 D RGD:7240710 20190315 OMIM 12275420 KY kyphoscoliosis peptidase gene DOID:0080098 myofibrillar myopathy 7 ISO RGD:1313421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 7 PMID:25741868|PMID:27484770|PMID:27485408|PMID:30591934 12275420 KY kyphoscoliosis peptidase gene DOID:0080307 myofibrillar myopathy ISO RGD:1313421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12275420 KY kyphoscoliosis peptidase gene DOID:0080600 COVID-19 ISO RGD:1313421 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12275420 KY kyphoscoliosis peptidase gene DOID:2476 hereditary spastic paraplegia ISO RGD:1313421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28488683 12275420 KY kyphoscoliosis peptidase gene DOID:630 genetic disease ISO RGD:1313421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12275420 KY kyphoscoliosis peptidase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1313421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12275436 KIAA1755 KIAA1755 gene DOID:10283 prostate cancer ISO RGD:2289756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12275436 KIAA1755 KIAA1755 gene DOID:2234 focal epilepsy ISO RGD:2289756 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12275436 KIAA1755 KIAA1755 gene DOID:630 genetic disease ISO RGD:2289756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275454 ANAPC7 anaphase promoting complex subunit 7 gene DOID:0050888 syndromic intellectual disability ISO RGD:1323638 D RGD:9068941 20220825 MouseDO 12275454 ANAPC7 anaphase promoting complex subunit 7 gene DOID:630 genetic disease ISO RGD:1344930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275454 ANAPC7 anaphase promoting complex subunit 7 gene DOID:9002328 FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME ISO RGD:1344930 D RGD:7240710 20220316 OMIM 12275454 ANAPC7 anaphase promoting complex subunit 7 gene DOID:9002328 FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME ISO RGD:1344930 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ferguson-Bonni neurodevelopmental syndrome PMID:25741868|PMID:34942119 12275472 GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 gene DOID:0080606 anterior segment dysgenesis 1 ISO RGD:1316187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES | ClinVar Annotator: match by term: Anterior segment dysgenesis 1 PMID:10361984|PMID:15286169|PMID:17888164|PMID:18989383|PMID:24555714|PMID:25741868|PMID:28492532|PMID:29405783|PMID:6801987|PMID:9620774 12275472 GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 gene DOID:0110202 Charcot-Marie-Tooth disease dominant intermediate A ISO RGD:1316187 D RGD:7240710 20211110 OMIM 12275472 GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 gene DOID:0110202 Charcot-Marie-Tooth disease dominant intermediate A ISO RGD:1316187 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Disease, axonal, type 2GG PMID:25741868|PMID:28492532|PMID:32937143 12275472 GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 gene DOID:0110249 cataract 11 multiple types ISO RGD:1316187 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cataract 11 multiple types | ClinVar Annotator: match by term: Cataract 11, posterior polar PMID:10361984|PMID:15286169|PMID:16565358|PMID:17888164|PMID:18989383|PMID:24555714|PMID:25741868|PMID:28492532|PMID:29405783|PMID:6801987|PMID:9620774 12275472 GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:1316187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275472 GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 gene DOID:7319 axonal neuropathy ISO RGD:1316187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Motor axonal neuropathy PMID:32937143 12275472 GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 gene DOID:9005728 Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities ISO RGD:1316187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities PMID:15286169|PMID:16565358 12275527 FABP9 fatty acid binding protein 9 gene DOID:630 genetic disease ISO RGD:1343200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275535 CFAP299 cilia and flagella associated protein 299 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1606121 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12275561 LIX1 limb and CNS expressed 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343566 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12275561 LIX1 limb and CNS expressed 1 gene DOID:630 genetic disease ISO RGD:1343566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275561 LIX1 limb and CNS expressed 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12275561 LIX1 limb and CNS expressed 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343566 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12275576 NEUROG3 neurogenin 3 gene DOID:0060779 congenital malabsorptive diarrhea 4 ISO RGD:1344822 D RGD:7240710 20180130 OMIM 12275576 NEUROG3 neurogenin 3 gene DOID:0060779 congenital malabsorptive diarrhea 4 ISO RGD:1344822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital malabsorptive diarrhea 4 PMID:16855267|PMID:24033266|PMID:25741868|PMID:26541772|PMID:28492532|PMID:31178402|PMID:31805014 12275576 NEUROG3 neurogenin 3 gene DOID:10603 glucose intolerance susceptibility ISO RGD:1344822 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.S199F PMID:15277395|REF_RGD_ID:1601481 12275576 NEUROG3 neurogenin 3 gene DOID:4195 hyperglycemia ISO RGD:1344822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperglycemia PMID:16855267|PMID:21378176|PMID:21490072|PMID:27533310|PMID:28940958|PMID:31178402|PMID:31805014 12275576 NEUROG3 neurogenin 3 gene DOID:630 genetic disease ISO RGD:1344822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12275576 NEUROG3 neurogenin 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1552201 D RGD:9068941 20200609 RGD PMID:19819964|REF_RGD_ID:2313774 12275576 NEUROG3 neurogenin 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344822 D RGD:9068941 20200609 RGD PMID:17146417|REF_RGD_ID:2313775 12275579 ALOXE3 arachidonate lipoxygenase 3 gene DOID:0050336 hypophosphatemia ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypophosphatemia PMID:25741868 12275579 ALOXE3 arachidonate lipoxygenase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1314765 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12275579 ALOXE3 arachidonate lipoxygenase 3 gene DOID:0060249 scoliosis ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868 12275579 ALOXE3 arachidonate lipoxygenase 3 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1314765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:11398099|PMID:16116617|PMID:19131948|PMID:19890349|PMID:22622417|PMID:24033266|PMID:24824130|PMID:25741868|PMID:25998749|PMID:26274329|PMID:26370990|PMID:26578203|PMID:26762237|PMID:27025581|PMID:28492532|PMID:29130490|PMID:29935003|PMID:30270455|PMID:30578701|PMID:31168818|PMID:33435499|PMID:33786896 12275579 ALOXE3 arachidonate lipoxygenase 3 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 ISO RGD:1314765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21739938 12275579 ALOXE3 arachidonate lipoxygenase 3 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 susceptibility ISO RGD:1314765 D RGD:9068941 20200609 RGD PMID:11773004|REF_RGD_ID:1599073 12275579 ALOXE3 arachidonate lipoxygenase 3 gene DOID:0060710 autosomal recessive congenital ichthyosis 2 ISO RGD:1314765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 PMID:16116617|PMID:19131948|PMID:25741868|PMID:26370990|PMID:26762237|PMID:30578701|PMID:31046801|PMID:31168818 12275579 ALOXE3 arachidonate lipoxygenase 3 gene DOID:0060711 autosomal recessive congenital ichthyosis 3 ISO RGD:1314765 D RGD:7240710 20180130 OMIM 12275579 ALOXE3 arachidonate lipoxygenase 3 gene DOID:0060711 autosomal recessive congenital ichthyosis 3 ISO RGD:1314765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 PMID:11398099|PMID:11773004|PMID:16116617|PMID:17576681|PMID:19131948|PMID:19890349|PMID:21668430|PMID:22622417|PMID:24033266|PMID:24824130|PMID:25741868|PMID:25998749|PMID:26274329|PMID:26370990|PMID:26578203|PMID:26762237|PMID:27025581|PMID:28492532|PMID:30270455|PMID:30578701|PMID:31046801|PMID:31642606|PMID:32978145|PMID:33435499|PMID:33786896|PMID:9536098 12275579 ALOXE3 arachidonate lipoxygenase 3 gene DOID:0080006 bone development disease ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 12275579 ALOXE3 arachidonate lipoxygenase 3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1314765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12275579 ALOXE3 arachidonate lipoxygenase 3 gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1314765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 12275579 ALOXE3 arachidonate lipoxygenase 3 gene DOID:1059 intellectual disability ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 12275579 ALOXE3 arachidonate lipoxygenase 3 gene DOID:10907 microcephaly ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Progressive microcephaly PMID:25741868 12275579 ALOXE3 arachidonate lipoxygenase 3 gene DOID:11502 mitral valve insufficiency ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitral regurgitation PMID:25741868 12275579 ALOXE3 arachidonate lipoxygenase 3 gene DOID:12177 common variable immunodeficiency ISO RGD:1314765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12275579 ALOXE3 arachidonate lipoxygenase 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1314765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12275579 ALOXE3 arachidonate lipoxygenase 3 gene DOID:1697 ichthyosis ISO RGD:1314765 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ichthyosis PMID:24824130|PMID:26274329|PMID:26578203|PMID:30270455 12275579 ALOXE3 arachidonate lipoxygenase 3 gene DOID:2340 craniosynostosis ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brachycephaly PMID:25741868 12275579 ALOXE3 arachidonate lipoxygenase 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1314765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12275579 ALOXE3 arachidonate lipoxygenase 3 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1314765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12275579 ALOXE3 arachidonate lipoxygenase 3 gene DOID:630 genetic disease ISO RGD:1314765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12275579 ALOXE3 arachidonate lipoxygenase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22919386 12275579 ALOXE3 arachidonate lipoxygenase 3 gene DOID:9003430 Sprengel Deformity ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sprengel's shoulder PMID:25741868 12275579 ALOXE3 arachidonate lipoxygenase 3 gene DOID:9007661 Dwarfism ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Disproportionate short stature PMID:25741868 12275603 PER1 period circadian regulator 1 gene DOID:0060001 withdrawal disorder ISO RGD:1349050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20738730 12275603 PER1 period circadian regulator 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1349050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12275603 PER1 period circadian regulator 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1552867 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 12275603 PER1 period circadian regulator 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1349050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12275603 PER1 period circadian regulator 1 gene DOID:12849 autistic disorder ISO RGD:1349050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17264841 12275603 PER1 period circadian regulator 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1349050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12275603 PER1 period circadian regulator 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1349050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12275603 PER1 period circadian regulator 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1349050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12275603 PER1 period circadian regulator 1 gene DOID:630 genetic disease ISO RGD:1349050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275603 PER1 period circadian regulator 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1349050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12275603 PER1 period circadian regulator 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:1349050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16999817 12275633 RFC2 replication factor C subunit 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12275633 RFC2 replication factor C subunit 2 gene DOID:10923 sickle cell anemia ISO RGD:1348076 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12275633 RFC2 replication factor C subunit 2 gene DOID:12849 autistic disorder ISO RGD:1348076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12275633 RFC2 replication factor C subunit 2 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1348076 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 12275633 RFC2 replication factor C subunit 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12275633 RFC2 replication factor C subunit 2 gene DOID:5419 schizophrenia ISO RGD:1348076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12275633 RFC2 replication factor C subunit 2 gene DOID:630 genetic disease ISO RGD:1348076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275633 RFC2 replication factor C subunit 2 gene DOID:8445 intestinal volvulus ISO RGD:1348076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12275633 RFC2 replication factor C subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12275633 RFC2 replication factor C subunit 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1348076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12275653 PIK3C3 phosphatidylinositol 3-kinase catalytic subunit type 3 gene DOID:1059 intellectual disability ISO RGD:732994 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12275653 PIK3C3 phosphatidylinositol 3-kinase catalytic subunit type 3 gene DOID:630 genetic disease ISO RGD:732994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275682 NAGS N-acetylglutamate synthase gene DOID:0112258 N-acetylglutamate synthase deficiency ISO RGD:1349520 D RGD:7240710 20180130 OMIM 12275682 NAGS N-acetylglutamate synthase gene DOID:10485 esophageal atresia ISO RGD:1349520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12275682 NAGS N-acetylglutamate synthase gene DOID:630 genetic disease ISO RGD:1349520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12594532|PMID:15050968|PMID:15714518|PMID:16199547|PMID:17421020|PMID:25741868|PMID:27570737|PMID:28492532 12275682 NAGS N-acetylglutamate synthase gene DOID:9008972 Hyperammonemia ISO RGD:1349520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperammonemia, type III PMID:12594532|PMID:12754705|PMID:15050968|PMID:15714518|PMID:15858972|PMID:15878741|PMID:16199547|PMID:17421020|PMID:23776373|PMID:23894642|PMID:24233332|PMID:25741868|PMID:27037498|PMID:27570737|PMID:28492532|PMID:32021803|PMID:9877039 12275682 NAGS N-acetylglutamate synthase gene DOID:9252 amino acid metabolic disorder ISO RGD:1349520 D RGD:9068941 20200609 RGD N-acetylglutamate synthase deficiency, OMIM:237310, DNA:frameshift:1025delG, point mutation:W324X PMID:12594532|REF_RGD_ID:1600560 12275704 ATAD5 ATPase family AAA domain containing 5 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1605345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 12275704 ATAD5 ATPase family AAA domain containing 5 gene DOID:1115 sarcoma susceptibility ISO RGD:1557158 D RGD:9068941 20200609 RGD PMID:21901109|REF_RGD_ID:11552595 12275704 ATAD5 ATPase family AAA domain containing 5 gene DOID:1969 cerebral palsy ISO RGD:1605345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12275704 ATAD5 ATPase family AAA domain containing 5 gene DOID:3192 neurilemmoma ISO RGD:1605345 D RGD:9068941 20200609 RGD mRNA:increased expression:neural tissue (human) PMID:20844836|REF_RGD_ID:11552594 12275704 ATAD5 ATPase family AAA domain containing 5 gene DOID:4001 ovarian carcinoma ISO RGD:1605345 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:25581431 12275704 ATAD5 ATPase family AAA domain containing 5 gene DOID:630 genetic disease ISO RGD:1605345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275704 ATAD5 ATPase family AAA domain containing 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1605345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 12275704 ATAD5 ATPase family AAA domain containing 5 gene DOID:9008582 Developmental Disease susceptibility ISO RGD:1557158 D RGD:9068941 20200609 RGD PMID:21901109|REF_RGD_ID:11552595 12275731 CHCHD3 coiled-coil-helix-coiled-coil-helix domain containing 3 gene DOID:303 substance-related disorder ISO RGD:1321163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12275731 CHCHD3 coiled-coil-helix-coiled-coil-helix domain containing 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12275731 CHCHD3 coiled-coil-helix-coiled-coil-helix domain containing 3 gene DOID:630 genetic disease ISO RGD:1321163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275782 OR51L1 olfactory receptor family 51 subfamily L member 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1343610 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12275782 OR51L1 olfactory receptor family 51 subfamily L member 1 gene DOID:630 genetic disease ISO RGD:1343610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275785 ZNF746 zinc finger protein 746 gene DOID:630 genetic disease ISO RGD:1606138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275795 VTA1 vesicle trafficking 1 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1312819 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12275795 VTA1 vesicle trafficking 1 gene DOID:630 genetic disease ISO RGD:1312819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275810 KHDC4 KH domain containing 4, pre-mRNA splicing factor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1605086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12275810 KHDC4 KH domain containing 4, pre-mRNA splicing factor gene DOID:0060586 Noonan syndrome 8 ISO RGD:1605086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 12275810 KHDC4 KH domain containing 4, pre-mRNA splicing factor gene DOID:0111940 immunodeficiency 42 ISO RGD:1605086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12275810 KHDC4 KH domain containing 4, pre-mRNA splicing factor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12275810 KHDC4 KH domain containing 4, pre-mRNA splicing factor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12275810 KHDC4 KH domain containing 4, pre-mRNA splicing factor gene DOID:1540 parathyroid carcinoma ISO RGD:1605086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12275810 KHDC4 KH domain containing 4, pre-mRNA splicing factor gene DOID:5812 MHC class II deficiency ISO RGD:1605086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12275810 KHDC4 KH domain containing 4, pre-mRNA splicing factor gene DOID:630 genetic disease ISO RGD:1605086 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275810 KHDC4 KH domain containing 4, pre-mRNA splicing factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12275832 PABPN1 poly(A) binding protein nuclear 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1345820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12275832 PABPN1 poly(A) binding protein nuclear 1 gene DOID:11719 oculopharyngeal muscular dystrophy ISO RGD:1345820 D RGD:7240710 20180130 OMIM 12275832 PABPN1 poly(A) binding protein nuclear 1 gene DOID:11719 oculopharyngeal muscular dystrophy ISO RGD:1345820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculopharyngeal muscular dystrophy PMID:16648376|PMID:25741868 12275832 PABPN1 poly(A) binding protein nuclear 1 gene DOID:630 genetic disease ISO RGD:1345820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275832 PABPN1 poly(A) binding protein nuclear 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1345820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 12275832 PABPN1 poly(A) binding protein nuclear 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1345820 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12275849 PHF14 PHD finger protein 14 gene DOID:630 genetic disease ISO RGD:1349780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275872 SIGLECL1 SIGLEC family like 1 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1602049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:16510302|PMID:23785301|PMID:28492532 12275872 SIGLECL1 SIGLEC family like 1 gene DOID:630 genetic disease ISO RGD:1602049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275889 TPBGL trophoblast glycoprotein like gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:6770651 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12275889 TPBGL trophoblast glycoprotein like gene DOID:1059 intellectual disability ISO RGD:6770651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12275889 TPBGL trophoblast glycoprotein like gene DOID:630 genetic disease ISO RGD:6770651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:0080006 bone development disease ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:17078022|PMID:19344236|PMID:25741868|PMID:27519266|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:730984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrochalasis multiplex congenita | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A PMID:25441681|PMID:28492532 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:31414283|PMID:31794058|PMID:7695699|PMID:8218237|PMID:9016532 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:0080728 Ehlers-Danlos syndrome arthrochalasia type 2 ISO RGD:730984 D RGD:7240710 20200318 OMIM 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:0080728 Ehlers-Danlos syndrome arthrochalasia type 2 ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2 PMID:10976985|PMID:11288717|PMID:11317364|PMID:15077201|PMID:15172002|PMID:1556139|PMID:1577745|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:1712342|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18996919|PMID:19344236|PMID:1978725|PMID:1990839|PMID:21520333|PMID:21530898|PMID:21801164|PMID:21884818|PMID:22589248|PMID:23158907|PMID:23869235|PMID:24033266|PMID:2454224|PMID:25146735|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26432670|PMID:26467025|PMID:26604951|PMID:27011056|PMID:27056980|PMID:27519266|PMID:2777808|PMID:28017821|PMID:28346524|PMID:28492532|PMID:28725987|PMID:29150909|PMID:2985635|PMID:2993307|PMID:30283887|PMID:30715774|PMID:30821104|PMID:30984112|PMID:31319225|PMID:31414283|PMID:31447884|PMID:32659730|PMID:34422331|PMID:3621666|PMID:3680255|PMID:3733683|PMID:4742738|PMID:6773953|PMID:7695699|PMID:7860070|PMID:7864655|PMID:8081389|PMID:8094076|PMID:8218237|PMID:8456808|PMID:9016532|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9594376|PMID:9923651 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:730984 D RGD:7240710 20180130 OMIM 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, cardiac valvular type PMID:15077201|PMID:16705691|PMID:16786509|PMID:16816023|PMID:17078022|PMID:17576681|PMID:19344236|PMID:21520333|PMID:22589248|PMID:25326637|PMID:25441681|PMID:25450603|PMID:25741868|PMID:25944380|PMID:26307460|PMID:26371943|PMID:26432670|PMID:26467025|PMID:26604951|PMID:27519266|PMID:28492532|PMID:29150909|PMID:3049731|PMID:30821104|PMID:31414283|PMID:31794058|PMID:32659730|PMID:3383844|PMID:7695699|PMID:7860070|PMID:8094076|PMID:8218237|PMID:9016532|PMID:9272740|PMID:9295084|PMID:9536098|PMID:9594376 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:0090034 myoclonic dystonia 11 ISO RGD:730984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 11 PMID:12821748|PMID:15389977|PMID:17853490|PMID:23677909|PMID:24297365|PMID:28492532 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:730984 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta tarda | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I | ClinVar Annotator: match by term: Osteogenesis imperfecta with opalescent teeth PMID:10027910|PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:1642148|PMID:16705691|PMID:16786509|PMID:16816023|PMID:16879195|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19344236|PMID:19594296|PMID:1978725|PMID:1990009|PMID:2010058|PMID:21344539|PMID:21520333|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23158907|PMID:23227268|PMID:23443412|PMID:23548243|PMID:23692737|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24342908|PMID:24501682|PMID:2454224|PMID:24668929|PMID:25146735|PMID:25289482|PMID:25326637|PMID:25441681|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:26627451|PMID:26788535|PMID:27011056|PMID:27056980|PMID:27264419|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2777808|PMID:2824475|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29150909|PMID:29499418|PMID:29595812|PMID:29656858|PMID:29669177|PMID:2985635|PMID:2993307|PMID:29947050|PMID:30152103|PMID:30311386|PMID:30715774|PMID:30886339|PMID:31039433|PMID:31141158|PMID:31363794|PMID:31414283|PMID:31447884|PMID:31794058|PMID:32659730|PMID:32667677|PMID:32770541|PMID:33070251|PMID:3372533|PMID:3680255|PMID:458828|PMID:4742738|PMID:6092353|PMID:6773953|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8081389|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9099837|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:730984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta tarda | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I | ClinVar Annotator: match by term: Osteogenesis imperfecta with opalescent teeth PMID:10027910|PMID:10627137|PMID:10807697|PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:1634225|PMID:1642148|PMID:16705691|PMID:16786509|PMID:16816023|PMID:16879195|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18798308|PMID:18996919|PMID:19317096|PMID:19344236|PMID:19594296|PMID:1978725|PMID:1990009|PMID:2010058|PMID:2052622|PMID:21239989|PMID:21344539|PMID:21488275|PMID:21488294|PMID:21520333|PMID:21530898|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23158907|PMID:23227268|PMID:23443412|PMID:23548243|PMID:23692737|PMID:23869235|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24296239|PMID:24342908|PMID:24501682|PMID:2454224|PMID:24668929|PMID:24863959|PMID:25086671|PMID:25146735|PMID:25289482|PMID:25326637|PMID:25436829|PMID:25441681|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26551090|PMID:26604951|PMID:26627451|PMID:26788535|PMID:27011056|PMID:27056980|PMID:27090748|PMID:27264419|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2777808|PMID:28017821|PMID:2824475|PMID:28346524|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29150909|PMID:29499418|PMID:29595812|PMID:29620724|PMID:29656858|PMID:29669177|PMID:29807018|PMID:2985635|PMID:2993307|PMID:29947050|PMID:30152103|PMID:30283887|PMID:30311386|PMID:30715774|PMID:30821104|PMID:30886339|PMID:30984112|PMID:31039433|PMID:31141158|PMID:31363794|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31566912|PMID:31737030|PMID:31794058|PMID:32123938|PMID:32659730|PMID:32667677|PMID:32770541|PMID:32920552|PMID:33070251|PMID:3372533|PMID:33939306|PMID:34025714|PMID:34306033|PMID:34422331|PMID:3680255|PMID:458828|PMID:4742738|PMID:6092353|PMID:6773953|PMID:7695699|PMID:7860070|PMID:7891382|PMID:7959683|PMID:8071956|PMID:8081389|PMID:8081394|PMID:8094076|PMID:8218237|PMID:8456807|PMID:8456808|PMID:8800927|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9099837|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:730984 D RGD:7240710 20180130 OMIM 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OI type III | ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:10807697|PMID:16705691|PMID:16786509|PMID:17078022|PMID:19208385|PMID:19344236|PMID:2052622|PMID:2064612|PMID:21488294|PMID:21520333|PMID:21667357|PMID:22206639|PMID:22589248|PMID:23934635|PMID:24033266|PMID:24501682|PMID:24668929|PMID:25326635|PMID:25326637|PMID:25450603|PMID:25741868|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26307460|PMID:26371943|PMID:26432670|PMID:26467025|PMID:26604951|PMID:26627451|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2824475|PMID:28492532|PMID:28498836|PMID:28810924|PMID:29150909|PMID:3023615|PMID:30715774|PMID:30821104|PMID:31447884|PMID:31794058|PMID:32659730|PMID:32770541|PMID:3995789|PMID:6092353|PMID:7695699|PMID:7749416|PMID:7860070|PMID:7881420|PMID:8081394|PMID:8094076|PMID:8218237|PMID:8728690|PMID:8829649|PMID:9016532|PMID:9099837|PMID:9143923|PMID:9272740|PMID:9594376 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:0110340 osteogenesis imperfecta type 4 ISO RGD:730984 D RGD:7240710 20180130 OMIM 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:0110340 osteogenesis imperfecta type 4 ISO RGD:730984 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: OI type IV | ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV | ClinVar Annotator: match by term: Osteogenesis imperfecta type 4 PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:19344236|PMID:20301472|PMID:2064612|PMID:21344539|PMID:21488275|PMID:21488294|PMID:21520333|PMID:21530898|PMID:21667357|PMID:22206639|PMID:22589248|PMID:23227268|PMID:23934635|PMID:24033266|PMID:24501682|PMID:25326637|PMID:25450603|PMID:25741868|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26307460|PMID:26371943|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:26627451|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28492532|PMID:28498836|PMID:28810924|PMID:2897363|PMID:29150909|PMID:29595812|PMID:29669177|PMID:30152103|PMID:30715774|PMID:30821104|PMID:30886339|PMID:32659730|PMID:32667677|PMID:7695699|PMID:7860070|PMID:7881420|PMID:8094076|PMID:8218237|PMID:8456807|PMID:8786065|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9143923|PMID:9240878|PMID:9268111|PMID:9272740|PMID:9594376 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:0110341 osteogenesis imperfecta type 2 ISO RGD:730984 D RGD:7240710 20180130 OMIM 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:0110341 osteogenesis imperfecta type 2 ISO RGD:730984 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA | ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta PMID:10027910|PMID:11288717|PMID:11317364|PMID:12362985|PMID:1301191|PMID:1385413|PMID:15077201|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:1711048|PMID:17576681|PMID:1874719|PMID:18996919|PMID:19344236|PMID:21488294|PMID:21520333|PMID:21667357|PMID:21829228|PMID:22589248|PMID:22753364|PMID:24033266|PMID:25326637|PMID:25450603|PMID:25741868|PMID:25944380|PMID:26177859|PMID:26307460|PMID:26371943|PMID:26432670|PMID:26467025|PMID:26604951|PMID:26627451|PMID:26938784|PMID:27509835|PMID:27519266|PMID:27748872|PMID:2777764|PMID:2839839|PMID:28492532|PMID:2914942|PMID:29150909|PMID:2952379|PMID:29656858|PMID:30715774|PMID:30821104|PMID:32659730|PMID:3372533|PMID:3383844|PMID:6191221|PMID:7695699|PMID:7860070|PMID:7959683|PMID:8094076|PMID:8218237|PMID:8482361|PMID:9016532|PMID:9272740|PMID:9536098|PMID:9594376|PMID:9923651 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:10941 intracranial aneurysm ISO RGD:730984 D RGD:9068941 20200609 RGD PMID:14739420|REF_RGD_ID:1581199 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:11476 osteoporosis ISO RGD:730984 D RGD:7240710 20180130 OMIM 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:11476 osteoporosis ISO RGD:730984 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 1 | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis PMID:15172002|PMID:16705691|PMID:16786509|PMID:17078022|PMID:18028452|PMID:19344236|PMID:1978725|PMID:21520333|PMID:22589248|PMID:25326637|PMID:25450603|PMID:25741868|PMID:25944380|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26432670|PMID:26467025|PMID:26604951|PMID:27011056|PMID:27519266|PMID:28017821|PMID:28492532|PMID:29150909|PMID:2985635|PMID:30283887|PMID:30821104|PMID:32659730|PMID:7695699|PMID:7860070|PMID:8094076|PMID:8218237|PMID:9016532|PMID:9272740|PMID:9399846|PMID:9594376|PMID:9923651 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta IAGP D RGD:12801476 20210603 OMIA Osteogenesis imperfecta, COL1A2-related PMID:11393792|PMID:29036614|PMID:31468557 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brittle bone disease | ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16705691|PMID:16816023|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19344236|PMID:1978725|PMID:1990009|PMID:2010058|PMID:21344539|PMID:21520333|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23692737|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26307460|PMID:26432670|PMID:26467025|PMID:26604951|PMID:27056980|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2824475|PMID:28378289|PMID:28396251|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28810924|PMID:28916840|PMID:29595812|PMID:29656858|PMID:2985635|PMID:2993307|PMID:30152103|PMID:30886339|PMID:31039433|PMID:31794058|PMID:32659730|PMID:32667677|PMID:3372533|PMID:3403536|PMID:458828|PMID:6092353|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brittle bone disease | ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19344236|PMID:1978725|PMID:1990009|PMID:2010058|PMID:21344539|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23692737|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26307460|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:27056980|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2824475|PMID:28378289|PMID:28396251|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28810924|PMID:28916840|PMID:29595812|PMID:29656858|PMID:2985635|PMID:30152103|PMID:30886339|PMID:31039433|PMID:31141158|PMID:31794058|PMID:32659730|PMID:32667677|PMID:3403536|PMID:458828|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19317096|PMID:19344236|PMID:1978725|PMID:1990009|PMID:2010058|PMID:21344539|PMID:21520333|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23692737|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:27011056|PMID:27056980|PMID:27090748|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28017821|PMID:2824475|PMID:28346524|PMID:28378289|PMID:28396251|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29595812|PMID:29656858|PMID:2985635|PMID:29947050|PMID:30152103|PMID:30283887|PMID:30715774|PMID:30821104|PMID:30886339|PMID:30984112|PMID:31039433|PMID:31141158|PMID:31414283|PMID:31566912|PMID:31794058|PMID:32659730|PMID:32667677|PMID:3403536|PMID:458828|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19317096|PMID:19344236|PMID:1978725|PMID:1990009|PMID:2010058|PMID:21344539|PMID:21520333|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23692737|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:27011056|PMID:27056980|PMID:27090748|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28017821|PMID:2824475|PMID:28346524|PMID:28378289|PMID:28396251|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29150909|PMID:29595812|PMID:29656858|PMID:2985635|PMID:29947050|PMID:30152103|PMID:30283887|PMID:30715774|PMID:30821104|PMID:30886339|PMID:30984112|PMID:31039433|PMID:31141158|PMID:31414283|PMID:31566912|PMID:31794058|PMID:32659730|PMID:32667677|PMID:3403536|PMID:458828|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19317096|PMID:19344236|PMID:1978725|PMID:1990009|PMID:2010058|PMID:20301472|PMID:21344539|PMID:21488294|PMID:21520333|PMID:21530898|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23692737|PMID:23869235|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25146735|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:26627451|PMID:27011056|PMID:27056980|PMID:27090748|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28017821|PMID:2824475|PMID:28346524|PMID:28378289|PMID:28396251|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29150909|PMID:29595812|PMID:29656858|PMID:2985635|PMID:29947050|PMID:30152103|PMID:30283887|PMID:30715774|PMID:30821104|PMID:30886339|PMID:30984112|PMID:31039433|PMID:31141158|PMID:31414283|PMID:31566912|PMID:31737030|PMID:31794058|PMID:32659730|PMID:32667677|PMID:32920552|PMID:3403536|PMID:34422331|PMID:458828|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19317096|PMID:19344236|PMID:1978725|PMID:1990009|PMID:2010058|PMID:20301472|PMID:21344539|PMID:21488275|PMID:21488294|PMID:21520333|PMID:21530898|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23692737|PMID:23869235|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25146735|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:26627451|PMID:27011056|PMID:27056980|PMID:27090748|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28017821|PMID:2824475|PMID:28346524|PMID:28378289|PMID:28396251|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29150909|PMID:29595812|PMID:29656858|PMID:2985635|PMID:29947050|PMID:30152103|PMID:30283887|PMID:30715774|PMID:30821104|PMID:30886339|PMID:30984112|PMID:31039433|PMID:31141158|PMID:31414283|PMID:31566912|PMID:31737030|PMID:31794058|PMID:32659730|PMID:32667677|PMID:32920552|PMID:3403536|PMID:34422331|PMID:458828|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:11288717|PMID:15077201|PMID:1577745|PMID:16199547|PMID:1634225|PMID:16786509|PMID:17078022|PMID:1712342|PMID:17576681|PMID:18996919|PMID:19344236|PMID:1990839|PMID:21239989|PMID:21520333|PMID:21801164|PMID:24033266|PMID:25741868|PMID:25944380|PMID:26402641|PMID:26467025|PMID:27056980|PMID:28492532|PMID:3049731|PMID:3383844|PMID:34025714|PMID:3621666|PMID:3733683|PMID:7695699|PMID:7864655|PMID:8218237|PMID:9016532|PMID:9272740|PMID:9295084|PMID:9536098 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:14323 Marfan syndrome ISO RGD:730984 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:15172002|PMID:18028452|PMID:1978725|PMID:25741868|PMID:26264438|PMID:26432670|PMID:27011056|PMID:28017821|PMID:28492532|PMID:2985635|PMID:30283887|PMID:9399846|PMID:9923651 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:1459 hypothyroidism ISO RGD:621351 D RGD:9068941 20200609 RGD mRNA:increased expression:heart ventricle PMID:8745212|REF_RGD_ID:7257542 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:730984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:10027910|PMID:11288717|PMID:11317364|PMID:11359465|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:16816023|PMID:16879195|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18311573|PMID:18996919|PMID:19344236|PMID:19594296|PMID:1978725|PMID:1990009|PMID:2052622|PMID:21520333|PMID:21667357|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23548243|PMID:23692737|PMID:23934635|PMID:24033266|PMID:24342908|PMID:24501682|PMID:2454224|PMID:24668929|PMID:25146735|PMID:25289482|PMID:25326637|PMID:25450603|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26551090|PMID:26604951|PMID:26627451|PMID:27056980|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2777808|PMID:2824475|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28725987|PMID:28810924|PMID:29595812|PMID:29620724|PMID:29656858|PMID:29807018|PMID:2985635|PMID:2993307|PMID:30152103|PMID:30283887|PMID:30715774|PMID:30886339|PMID:31039433|PMID:31363794|PMID:31414283|PMID:31794058|PMID:32659730|PMID:32667677|PMID:3372533|PMID:3680255|PMID:4742738|PMID:6092353|PMID:6773953|PMID:7693712|PMID:7695699|PMID:7749416|PMID:7860070|PMID:7891382|PMID:8081389|PMID:8081394|PMID:8094076|PMID:8218237|PMID:8829649|PMID:9016532|PMID:9099837|PMID:9240878|PMID:9272740|PMID:9399846|PMID:9536098|PMID:9594376|PMID:9923651 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:730984 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:16816023|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19317096|PMID:19344236|PMID:1978725|PMID:2010058|PMID:21344539|PMID:21488275|PMID:21488294|PMID:21520333|PMID:21667357|PMID:21801164|PMID:21912751|PMID:22206639|PMID:22589248|PMID:23227268|PMID:23692737|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:26627451|PMID:27011056|PMID:27056980|PMID:27090748|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28017821|PMID:2824475|PMID:28346524|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29150909|PMID:29595812|PMID:2985635|PMID:2993307|PMID:29947050|PMID:30152103|PMID:30283887|PMID:30715774|PMID:30821104|PMID:30886339|PMID:30984112|PMID:31039433|PMID:31141158|PMID:31414283|PMID:31566912|PMID:31794058|PMID:32659730|PMID:32667677|PMID:3372533|PMID:34422331|PMID:458828|PMID:6092353|PMID:7695699|PMID:7749416|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:3770 pulmonary fibrosis ISO RGD:621351 D RGD:9068941 20200609 RGD PMID:7511187|REF_RGD_ID:7257543 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:4079 heart valve disease ISO RGD:730984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15077201 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:4079 heart valve disease ISO RGD:730984 D RGD:9068941 20200609 RGD PMID:15077201|PMID:16816023|REF_RGD_ID:1581196|REF_RGD_ID:1581198 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:4154 dentinogenesis imperfecta ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dentinogenesis imperfecta PMID:16705691|PMID:17078022|PMID:19344236|PMID:23227268|PMID:25741868|PMID:25944380|PMID:26177859|PMID:26788535|PMID:27510842|PMID:28492532|PMID:30152103|PMID:30715774|PMID:30886339|PMID:31429852|PMID:7695699|PMID:8218237|PMID:9016532 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:418 systemic scleroderma ISO RGD:730984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24706986 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:730984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:5082 liver cirrhosis ISO RGD:730984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:5199 ureteral obstruction ISO RGD:621351 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:20660018|REF_RGD_ID:5688341 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:5773 oral submucous fibrosis ISO RGD:730984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:630 genetic disease ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10027910|PMID:11288717|PMID:11317364|PMID:15077201|PMID:16199547|PMID:17078022|PMID:18996919|PMID:19344236|PMID:2010058|PMID:21344539|PMID:21667357|PMID:21801164|PMID:21912751|PMID:24140640|PMID:24668929|PMID:25741868|PMID:25944380|PMID:2824475|PMID:28492532|PMID:28625337|PMID:28916840|PMID:458828|PMID:7695699|PMID:8071956|PMID:8218237|PMID:9016532|PMID:9268111|PMID:9295084|PMID:9557891 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:65 connective tissue disease ISO RGD:730984 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:15172002|PMID:17576681|PMID:18028452|PMID:1978725|PMID:25741868|PMID:25944380|PMID:26264438|PMID:26432670|PMID:26467025|PMID:27011056|PMID:27056980|PMID:28017821|PMID:28492532|PMID:2985635|PMID:30283887|PMID:31363794|PMID:9399846|PMID:9536098|PMID:9923651 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:767 muscular atrophy ISO RGD:621351 D RGD:9068941 20200609 RGD PMID:17916675|REF_RGD_ID:7257536 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:8398 osteoarthritis ISO RGD:730984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:9000784 Fibrosis ISO RGD:730984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388698 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:730984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Predisposition to dissection PMID:25741868|PMID:28492532 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621351 D RGD:9068941 20200609 RGD PMID:7512265|REF_RGD_ID:7257544 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:730984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:9004283 Transplant Rejection ISO RGD:730984 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:20150539|REF_RGD_ID:7248773 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:9004590 Acute Liver Failure ISO RGD:621351 D RGD:9068941 20200609 RGD PMID:11786959|REF_RGD_ID:7257539 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:9004797 Fetal Nutrition Disorders ISO RGD:621351 D RGD:9068941 20230202 RGD associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) PMID:23977013|REF_RGD_ID:155882570 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Postmenopausal osteoporosis PMID:1463018|PMID:15172002|PMID:16705691|PMID:16786509|PMID:16879195|PMID:17078022|PMID:18028452|PMID:19344236|PMID:1978725|PMID:2052622|PMID:21520333|PMID:22589248|PMID:22753364|PMID:25326637|PMID:25450603|PMID:25741868|PMID:25944380|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26432670|PMID:26604951|PMID:27011056|PMID:27519266|PMID:28017821|PMID:28492532|PMID:2985635|PMID:30283887|PMID:32659730|PMID:7695699|PMID:7860070|PMID:8094076|PMID:8218237|PMID:8786074|PMID:9016532|PMID:9272740|PMID:9399846|PMID:9594376|PMID:9923651 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:9005950 Orthostatic Hypotension ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Orthostatic hypotension 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:9007227 Bruck Syndrome 1 ISO RGD:730984 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bruck syndrome 1 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:9007779 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 ISO RGD:730984 D RGD:7240710 20201223 OMIM 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:9007779 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | ClinVar Annotator: match by term: OIEDS SYNDROME 2 PMID:10027910|PMID:10982177|PMID:11288717|PMID:11317364|PMID:16705691|PMID:17078022|PMID:18311573|PMID:18996919|PMID:19344236|PMID:21520333|PMID:21667357|PMID:22589248|PMID:23692737|PMID:25146735|PMID:25741868|PMID:25944380|PMID:26177859|PMID:26371943|PMID:26432670|PMID:26467025|PMID:27510842|PMID:28378289|PMID:28492532|PMID:29150909|PMID:30715774|PMID:30821104|PMID:34422331|PMID:7695699|PMID:8218237|PMID:9016532 12275963 COL1A2 collagen type I alpha 2 chain gene DOID:9008086 Developmental Disabilities ISO RGD:730984 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28492532|PMID:30311386 12276019 ADRA1B adrenoceptor alpha 1B gene DOID:10763 hypertension ISO RGD:10096 D RGD:9068941 20200609 RGD PMID:16095979|REF_RGD_ID:1625771 12276019 ADRA1B adrenoceptor alpha 1B gene DOID:11612 polycystic ovary syndrome ISO RGD:2054 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:ovary PMID:15795180|REF_RGD_ID:5508374 12276019 ADRA1B adrenoceptor alpha 1B gene DOID:2018 hyperinsulinism susceptibility ISO RGD:10096 D RGD:9068941 20200609 RGD PMID:14581480|REF_RGD_ID:1625772 12276019 ADRA1B adrenoceptor alpha 1B gene DOID:3602 toxic encephalopathy ISO RGD:733119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19125850 12276019 ADRA1B adrenoceptor alpha 1B gene DOID:557 kidney disease ISO RGD:733119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18257748 12276019 ADRA1B adrenoceptor alpha 1B gene DOID:630 genetic disease ISO RGD:733119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276019 ADRA1B adrenoceptor alpha 1B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12276019 ADRA1B adrenoceptor alpha 1B gene DOID:9002955 Nerve Degeneration ISO RGD:733119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12871582 12276019 ADRA1B adrenoceptor alpha 1B gene DOID:9003936 Cardiomegaly ISO RGD:733119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11278430|PMID:11940550 12276019 ADRA1B adrenoceptor alpha 1B gene DOID:9006024 Hypotension ISO RGD:733119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11278430 12276019 ADRA1B adrenoceptor alpha 1B gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:10096 D RGD:9068941 20200609 RGD PMID:14581480|REF_RGD_ID:1625772 12276025 DBF4 DBF4 zinc finger gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12276025 DBF4 DBF4 zinc finger gene DOID:630 genetic disease ISO RGD:1605697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276043 KLHL2 kelch like family member 2 gene DOID:630 genetic disease ISO RGD:1314975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276061 ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 gene DOID:2661 myoepithelioma ISO RGD:1314113 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12276061 ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1314113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276061 ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1314113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12276061 ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1314113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12276091 RNF214 ring finger protein 214 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12276091 RNF214 ring finger protein 214 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12276091 RNF214 ring finger protein 214 gene DOID:0080690 RASopathy ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12276091 RNF214 ring finger protein 214 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12276091 RNF214 ring finger protein 214 gene DOID:0111123 nephronophthisis 15 ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 12276091 RNF214 ring finger protein 214 gene DOID:0111971 immunodeficiency 18 ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12276091 RNF214 ring finger protein 214 gene DOID:0111972 immunodeficiency 19 ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12276091 RNF214 ring finger protein 214 gene DOID:0111973 immunodeficiency 17 ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 PMID:28492532 12276091 RNF214 ring finger protein 214 gene DOID:1059 intellectual disability ISO RGD:1604189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12276091 RNF214 ring finger protein 214 gene DOID:630 genetic disease ISO RGD:1604189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276091 RNF214 ring finger protein 214 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12276091 RNF214 ring finger protein 214 gene DOID:9007661 Dwarfism ISO RGD:1604189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12276113 YAP1 Yes1 associated transcriptional regulator gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1314421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 12276113 YAP1 Yes1 associated transcriptional regulator gene DOID:0050795 cone dystrophy ISO RGD:1550378 D RGD:9068941 20220825 MouseDO OMIM:180020 | OMIM:610024 | OMIM:610356 | OMIM:610478 | OMIM:613093 12276113 YAP1 Yes1 associated transcriptional regulator gene DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability ISO RGD:1314421 D RGD:7240710 20180130 OMIM 12276113 YAP1 Yes1 associated transcriptional regulator gene DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability ISO RGD:1314421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Uveal coloboma-cleft lip and palate-intellectual disability PMID:24462371|PMID:25741868|PMID:28492532|PMID:4997531 12276113 YAP1 Yes1 associated transcriptional regulator gene DOID:1059 intellectual disability ISO RGD:1314421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12276113 YAP1 Yes1 associated transcriptional regulator gene DOID:12270 coloboma ISO RGD:1314421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:24462371 12276113 YAP1 Yes1 associated transcriptional regulator gene DOID:12704 ataxia telangiectasia ISO RGD:1314421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12276113 YAP1 Yes1 associated transcriptional regulator gene DOID:255 hemangioma ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31351048 12276113 YAP1 Yes1 associated transcriptional regulator gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31494105 12276113 YAP1 Yes1 associated transcriptional regulator gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20729916 12276113 YAP1 Yes1 associated transcriptional regulator gene DOID:630 genetic disease ISO RGD:1314421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276113 YAP1 Yes1 associated transcriptional regulator gene DOID:684 hepatocellular carcinoma ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29698666 12276113 YAP1 Yes1 associated transcriptional regulator gene DOID:769 neuroblastoma ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 12276113 YAP1 Yes1 associated transcriptional regulator gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:1314421 D RGD:9068941 20220421 RGD PMID:28756200|REF_RGD_ID:151893490 12276113 YAP1 Yes1 associated transcriptional regulator gene DOID:9000918 Disease Progression ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30703373 12276113 YAP1 Yes1 associated transcriptional regulator gene DOID:9000965 Neoplasm Metastasis ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 12276113 YAP1 Yes1 associated transcriptional regulator gene DOID:9002762 Ovarian Neoplasms ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20947521 12276113 YAP1 Yes1 associated transcriptional regulator gene DOID:9002801 Recurrence ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 12276113 YAP1 Yes1 associated transcriptional regulator gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1314421 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34351699 12276113 YAP1 Yes1 associated transcriptional regulator gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30703373 12276113 YAP1 Yes1 associated transcriptional regulator gene DOID:9007502 Brain Neoplasms ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 12276113 YAP1 Yes1 associated transcriptional regulator gene DOID:9008443 Colorectal Neoplasms ISO RGD:1314421 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:30510241|PMID:34351699 12276113 YAP1 Yes1 associated transcriptional regulator gene DOID:9008939 Breast Neoplasms ISO RGD:1314421 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:28114269|PMID:28524356 12276113 YAP1 Yes1 associated transcriptional regulator gene DOID:9256 colorectal cancer treatment ISO RGD:1314421 D RGD:9068941 20220728 RGD human cells in mouse model PMID:32682784|REF_RGD_ID:153297782 12276113 YAP1 Yes1 associated transcriptional regulator gene DOID:9538 multiple myeloma ISO RGD:1314421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12276125 ASPRV1 aspartic peptidase retroviral like 1 gene DOID:10283 prostate cancer ISO RGD:1604987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12276125 ASPRV1 aspartic peptidase retroviral like 1 gene DOID:1697 ichthyosis IAGP D RGD:12801476 20211201 OMIA Ichthyosis, ASPRV1-related PMID:28249031|PMID:34796560 12276125 ASPRV1 aspartic peptidase retroviral like 1 gene DOID:630 genetic disease ISO RGD:1604987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276125 ASPRV1 aspartic peptidase retroviral like 1 gene DOID:9003075 Lamellar Ichthyosis, Autosomal Dominant Form ISO RGD:1604987 D RGD:7240710 20200902 OMIM 12276125 ASPRV1 aspartic peptidase retroviral like 1 gene DOID:9003075 Lamellar Ichthyosis, Autosomal Dominant Form ISO RGD:1604987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant lamellar ichthyosis PMID:32516568|PMID:6499258 12276130 OR2L3 olfactory receptor family 2 subfamily L member 3 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1345416 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12276130 OR2L3 olfactory receptor family 2 subfamily L member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1345416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12276130 OR2L3 olfactory receptor family 2 subfamily L member 3 gene DOID:630 genetic disease ISO RGD:1345416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276130 OR2L3 olfactory receptor family 2 subfamily L member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12276130 OR2L3 olfactory receptor family 2 subfamily L member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12276133 NUP210 nucleoporin 210 gene DOID:0060417 3p deletion syndrome ISO RGD:1346505 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12276133 NUP210 nucleoporin 210 gene DOID:630 genetic disease ISO RGD:1346505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276178 FOXP1 forkhead box P1 gene DOID:0050651 atrioventricular septal defect ISO RGD:1318576 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect PMID:25741868|PMID:28492532 12276178 FOXP1 forkhead box P1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12276178 FOXP1 forkhead box P1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1318576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:28492532|PMID:31474318 12276178 FOXP1 forkhead box P1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1318576 D RGD:9068941 20200609 RGD protein:altered expression:neocortex (human) PMID:22759905|REF_RGD_ID:11560525 12276178 FOXP1 forkhead box P1 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:1318576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial septal defect 1 PMID:28492532 12276178 FOXP1 forkhead box P1 gene DOID:0111331 intellectual disability-severe speech delay-mild dysmorphism syndrome ISO RGD:1318576 D RGD:7240710 20180130 OMIM 12276178 FOXP1 forkhead box P1 gene DOID:0111331 intellectual disability-severe speech delay-mild dysmorphism syndrome ISO RGD:1318576 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual Disability with Language Impairment and Autistic Features | ClinVar Annotator: match by term: Intellectual disability-severe speech delay-mild dysmorphism syndrome | ClinVar Annotator: match by term: Mental retardation with language impairment and autistic features PMID:17405132|PMID:17576681|PMID:20848658|PMID:20950788|PMID:24214399|PMID:24498627|PMID:25131622|PMID:25326635|PMID:25363768|PMID:25575603|PMID:25741868|PMID:25767709|PMID:26633542|PMID:26647308|PMID:27657687|PMID:27824329|PMID:28492532|PMID:28653555|PMID:28708303|PMID:28714951|PMID:28735298|PMID:28741757|PMID:28884888|PMID:29142287|PMID:30385778|PMID:30564305|PMID:31199603|PMID:31474318|PMID:31618753|PMID:32860008|PMID:33427368|PMID:34109629|PMID:9536098 12276178 FOXP1 forkhead box P1 gene DOID:1059 intellectual disability ISO RGD:1318576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:17576681|PMID:25741868|PMID:26633542|PMID:26647308|PMID:28492532|PMID:28714951|PMID:28741757|PMID:31618753|PMID:9536098 12276178 FOXP1 forkhead box P1 gene DOID:12306 vitiligo ISO RGD:1318576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526340 12276178 FOXP1 forkhead box P1 gene DOID:1255 trichostrongyloidiasis ISO RGD:1308669 D RGD:9068941 20200609 RGD mRNA:increased expression:duodenum (rat) PMID:21698235|REF_RGD_ID:11561920 12276178 FOXP1 forkhead box P1 gene DOID:12849 autistic disorder ISO RGD:1318576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 12276178 FOXP1 forkhead box P1 gene DOID:12858 Huntington's disease ISO RGD:1318576 D RGD:9068941 20200609 RGD mRNA:decreased expression:caudate nucleus (human) PMID:16405510|REF_RGD_ID:11560524 12276178 FOXP1 forkhead box P1 gene DOID:12858 Huntington's disease ISO RGD:1318577 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum (mouse) PMID:16405510|REF_RGD_ID:11560524 12276178 FOXP1 forkhead box P1 gene DOID:1682 congenital heart disease ISO RGD:1318576 D RGD:9068941 20200609 RGD DNA:missense mutation, deletion:cds, exons:p.P568S (human) PMID:23766104|REF_RGD_ID:11071913 12276178 FOXP1 forkhead box P1 gene DOID:1793 pancreatic cancer ISO RGD:1318576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25485836 12276178 FOXP1 forkhead box P1 gene DOID:1826 epilepsy ISO RGD:1318576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12276178 FOXP1 forkhead box P1 gene DOID:1923 disorder of sexual development ISO RGD:1318576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 12276178 FOXP1 forkhead box P1 gene DOID:255 hemangioma ISO RGD:1318576 D RGD:8554872 20221101 ClinVar ClinVar Annotator: match by term: Glabellar hemangioma PMID:25741868 12276178 FOXP1 forkhead box P1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1318576 D RGD:9068941 20220908 RGD mRNA:decreased expression:lung (human) PMID:22491060|REF_RGD_ID:153350086 12276178 FOXP1 forkhead box P1 gene DOID:3910 lung adenocarcinoma ISO RGD:1308669 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (rat) PMID:16023287|REF_RGD_ID:11561933 12276178 FOXP1 forkhead box P1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1318576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121790 12276178 FOXP1 forkhead box P1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1318576 D RGD:9068941 20200609 RGD DNA:snps:intron, enhancer:g.70959438A>G, g.70879779A>C (rs9837992, rs2687201) (human) PMID:26383589|REF_RGD_ID:11535321 12276178 FOXP1 forkhead box P1 gene DOID:540 strabismus ISO RGD:1318576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868 12276178 FOXP1 forkhead box P1 gene DOID:5419 schizophrenia ISO RGD:1318576 D RGD:9068941 20200609 RGD DNA:snp:intron:g.71205600C>T (rsrs7372960) (human) PMID:26460480|REF_RGD_ID:11353286 12276178 FOXP1 forkhead box P1 gene DOID:6000 congestive heart failure ISO RGD:1318576 D RGD:9068941 20200609 RGD PMID:16952980|REF_RGD_ID:1582564 12276178 FOXP1 forkhead box P1 gene DOID:630 genetic disease ISO RGD:1318576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19352412|PMID:20848658|PMID:20950788|PMID:25326635|PMID:25741868|PMID:26633542|PMID:26647308|PMID:27657687|PMID:28492532|PMID:28714951|PMID:28735298|PMID:28741757|PMID:28884888|PMID:30385778|PMID:30564305|PMID:31199603|PMID:31474318|PMID:31618753|PMID:34109629|PMID:9536098 12276178 FOXP1 forkhead box P1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1318576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12276178 FOXP1 forkhead box P1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1308669 D RGD:9068941 20200609 RGD PMID:25156538|REF_RGD_ID:9587823 12276178 FOXP1 forkhead box P1 gene DOID:8283 peritonitis ISO RGD:1318576 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:18799727|REF_RGD_ID:11561898 12276178 FOXP1 forkhead box P1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1318576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25485836 12276178 FOXP1 forkhead box P1 gene DOID:9000998 Brain Injuries treatment ISO RGD:1308669 D RGD:9068941 20200609 RGD PMID:26842647|REF_RGD_ID:11561903 12276178 FOXP1 forkhead box P1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318576 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12276178 FOXP1 forkhead box P1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1318576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25485836 12276178 FOXP1 forkhead box P1 gene DOID:9008237 Hemimegalencephaly ISO RGD:1318576 D RGD:9068941 20200609 RGD protein:altered expression:neocortex (human) PMID:22759905|REF_RGD_ID:11560525 12276178 FOXP1 forkhead box P1 gene DOID:9008582 Developmental Disease ISO RGD:1318576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:30564305 12276178 FOXP1 forkhead box P1 gene DOID:9009087 Hypoplastic Left Heart Syndrome 1 ISO RGD:1318576 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome 1 PMID:25741868|PMID:28492532 12276178 FOXP1 forkhead box P1 gene DOID:9206 Barrett's esophagus ISO RGD:1318576 D RGD:9068941 20200609 RGD DNA:snp:enhancer:g.70879779A>C (rs2687201) (human) PMID:25447851|REF_RGD_ID:11560527 12276178 FOXP1 forkhead box P1 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1318576 D RGD:9068941 20200609 RGD mRNA:decreased expression:interatrial septum (human) PMID:18344372|REF_RGD_ID:11561899 12276233 ADGRE1 adhesion G protein-coupled receptor E1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1342649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12276233 ADGRE1 adhesion G protein-coupled receptor E1 gene DOID:630 genetic disease ISO RGD:1342649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276233 ADGRE1 adhesion G protein-coupled receptor E1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12276269 COL8A1 collagen type VIII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1319668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276269 COL8A1 collagen type VIII alpha 1 chain gene DOID:9005835 Congenital Abnormalities ISO RGD:1319668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19035365 12276269 COL8A1 collagen type VIII alpha 1 chain gene DOID:9775 diastolic heart failure ISO RGD:1319668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12276277 FLACC1 flagellum associated containing coiled-coil domains 1 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1343894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12276277 FLACC1 flagellum associated containing coiled-coil domains 1 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1343894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12276277 FLACC1 flagellum associated containing coiled-coil domains 1 gene DOID:10327 anthracosis ISO RGD:1343894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394417 12276277 FLACC1 flagellum associated containing coiled-coil domains 1 gene DOID:630 genetic disease ISO RGD:1343894 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276277 FLACC1 flagellum associated containing coiled-coil domains 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1343894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12276277 FLACC1 flagellum associated containing coiled-coil domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12276277 FLACC1 flagellum associated containing coiled-coil domains 1 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1343894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12276277 FLACC1 flagellum associated containing coiled-coil domains 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1343894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12276301 ZC4H2 zinc finger C4H2-type containing gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12276301 ZC4H2 zinc finger C4H2-type containing gene DOID:0060815 Miles-Carpenter syndrome ISO RGD:1349237 D RGD:7240710 20180321 OMIM 12276301 ZC4H2 zinc finger C4H2-type containing gene DOID:0060815 Miles-Carpenter syndrome ISO RGD:1349237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Miles-Carpenter syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome PMID:17576681|PMID:1915520|PMID:19377476|PMID:2018061|PMID:23623388|PMID:25644381|PMID:25741868|PMID:26056227|PMID:28492532|PMID:28814648|PMID:31206972|PMID:32860008|PMID:4039531|PMID:9536098 12276301 ZC4H2 zinc finger C4H2-type containing gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1349237 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:9383023 12276301 ZC4H2 zinc finger C4H2-type containing gene DOID:0080215 developmental and epileptic encephalopathy 8 ISO RGD:1349237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 PMID:28492532 12276301 ZC4H2 zinc finger C4H2-type containing gene DOID:0111827 X-linked spinal muscular atrophy 2 ISO RGD:1349237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23623388 12276301 ZC4H2 zinc finger C4H2-type containing gene DOID:10907 microcephaly ISO RGD:1349237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26056227 12276301 ZC4H2 zinc finger C4H2-type containing gene DOID:12849 autistic disorder ISO RGD:1349237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12276301 ZC4H2 zinc finger C4H2-type containing gene DOID:630 genetic disease ISO RGD:1349237 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19377476|PMID:23623388|PMID:25644381|PMID:25741868|PMID:26056227|PMID:28492532|PMID:28814648|PMID:31206972 12276301 ZC4H2 zinc finger C4H2-type containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:1915520|PMID:23623388|PMID:25741868|PMID:28814648 12276301 ZC4H2 zinc finger C4H2-type containing gene DOID:9008262 WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED ISO RGD:1349237 D RGD:7240710 20200826 OMIM 12276301 ZC4H2 zinc finger C4H2-type containing gene DOID:9008262 WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED ISO RGD:1349237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted PMID:23623388|PMID:25741868|PMID:28814648|PMID:31206972 12276314 CHGA chromogranin A gene DOID:0050771 pheochromocytoma ISO RGD:730836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11116123 12276314 CHGA chromogranin A gene DOID:0050771 pheochromocytoma disease_progression ISO RGD:730836 D RGD:9068941 20200609 RGD PMID:2189303|REF_RGD_ID:6906907 12276314 CHGA chromogranin A gene DOID:0080054 achondrogenesis type IA ISO RGD:730836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12276314 CHGA chromogranin A gene DOID:10283 prostate cancer susceptibility ISO RGD:730836 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E264D (human) PMID:20663522|REF_RGD_ID:6906901 12276314 CHGA chromogranin A gene DOID:10763 hypertension ISO RGD:10339 D RGD:9068941 20200609 RGD PMID:20729505|REF_RGD_ID:6906900 12276314 CHGA chromogranin A gene DOID:10763 hypertension ISO RGD:10339 D RGD:9068941 20200609 RGD protein:creased expression:adrenal gland PMID:10803489|REF_RGD_ID:6907055 12276314 CHGA chromogranin A gene DOID:10763 hypertension ISO RGD:2338 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:adrenal gland medulla, plasma PMID:10803489|REF_RGD_ID:6907055 12276314 CHGA chromogranin A gene DOID:10763 hypertension ISO RGD:730836 D RGD:9068941 20200609 RGD PMID:21061160|REF_RGD_ID:6906897 12276314 CHGA chromogranin A gene DOID:10763 hypertension no_association ISO RGD:730836 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter PMID:20113265|REF_RGD_ID:6906902 12276314 CHGA chromogranin A gene DOID:2986 IgA glomerulonephritis ISO RGD:730836 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:polymorphism:promoter:-415T>C (human) PMID:20113265|REF_RGD_ID:6906902 12276314 CHGA chromogranin A gene DOID:3908 lung non-small cell carcinoma ISO RGD:730836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21595568 12276314 CHGA chromogranin A gene DOID:630 genetic disease ISO RGD:730836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276314 CHGA chromogranin A gene DOID:783 end stage renal disease ISO RGD:730836 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:polymorphisms, haplotypes:promoter, 3' utr:multiple PMID:18235090|REF_RGD_ID:6906903 12276314 CHGA chromogranin A gene DOID:783 end stage renal disease ISO RGD:730836 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20730520|REF_RGD_ID:6906898 12276326 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:0060001 withdrawal disorder treatment ISO RGD:621859 D RGD:9068941 20200609 RGD associated with Morphine Dependence PMID:25604667|REF_RGD_ID:13514096 12276326 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:12858 Huntington's disease ISO RGD:621859 D RGD:9068941 20200609 RGD PMID:18502785|REF_RGD_ID:13515080 12276326 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:1596 depressive disorder treatment ISO RGD:621859 D RGD:9068941 20200609 RGD PMID:27457507|REF_RGD_ID:13514054 12276326 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:1824 status epilepticus ISO RGD:621859 D RGD:9068941 20200609 RGD protein:increased phosphorylation:brain PMID:25219249|REF_RGD_ID:13515071 12276326 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:3312 bipolar disorder ISO RGD:1347073 D RGD:9068941 20200609 RGD DNA, mRNA:SNPs, haplotype, splice variant:multiple PMID:23295814|REF_RGD_ID:13515076 12276326 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:3454 brain infarction ISO RGD:621859 D RGD:9068941 20221027 RGD protein:altered expression:brain (rat) PMID:12161747|REF_RGD_ID:155630606 12276326 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:5419 schizophrenia ISO RGD:1347073 D RGD:9068941 20200609 RGD DNA, mRNA:SNPs, haplotype, splice variant:multiple PMID:23295814|REF_RGD_ID:13515076 12276326 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:5419 schizophrenia ISO RGD:621859 D RGD:9068941 20200609 RGD protein:increased threonine phosphorylation:nucleus accumbens PMID:22820052|REF_RGD_ID:13515078 12276326 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:630 genetic disease ISO RGD:1347073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276326 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:9003104 Intracranial Hemorrhages ISO RGD:621859 D RGD:9068941 20200609 RGD PMID:23543809|REF_RGD_ID:13515075 12276326 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:621859 D RGD:9068941 20200609 RGD PMID:23153068|REF_RGD_ID:13515077 12276326 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:9003805 Catalepsy ISO RGD:1347073 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20682746 12276326 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:9008394 Drug-Induced Dyskinesia treatment ISO RGD:621859 D RGD:9068941 20200609 RGD associated with Parkinsonian Disorders PMID:27771532|REF_RGD_ID:13514053 12276326 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:9008675 Dyskinesias ISO RGD:1347073 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20682746 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:0060260 ptosis ISO RGD:1349540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ptosis PMID:25741868 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1349540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:15972314|PMID:8104867 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:0111734 aminoglycoside-induced deafness ISO RGD:1349540 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY PMID:10521300|PMID:10577941|PMID:10633132|PMID:10661905|PMID:10788333|PMID:10915767|PMID:11174059|PMID:11230176|PMID:11388757|PMID:11857751|PMID:11870684|PMID:12031626|PMID:12054632|PMID:12127547|PMID:12372057|PMID:12624722|PMID:12655418|PMID:12920080|PMID:12939650|PMID:12955586|PMID:14699607|PMID:14755216|PMID:15708009|PMID:15841390|PMID:15917167|PMID:1613771|PMID:16152638|PMID:16168391|PMID:16375862|PMID:16458854|PMID:16631122|PMID:16826519|PMID:16935512|PMID:16955413|PMID:17341440|PMID:17637808|PMID:17723226|PMID:17999439|PMID:18386806|PMID:18790089|PMID:18820594|PMID:18830133|PMID:18983818|PMID:19196684|PMID:19196685|PMID:19376484|PMID:19475720|PMID:19687236|PMID:19818876|PMID:19835846|PMID:20100600|PMID:20111055|PMID:20172897|PMID:20301595|PMID:20353758|PMID:20416460|PMID:21047563|PMID:21162657|PMID:21205314|PMID:21329993|PMID:21495045|PMID:21504270|PMID:21725156|PMID:21777984|PMID:21811586|PMID:21828074|PMID:22223843|PMID:22475488|PMID:22879993|PMID:22992668|PMID:23256547|PMID:23525847|PMID:24033266|PMID:24252789|PMID:24651602|PMID:24703164|PMID:25155176|PMID:25515069|PMID:25741868|PMID:25744662|PMID:26497601|PMID:26822237|PMID:27427311|PMID:28049726|PMID:28520359|PMID:29805548|PMID:32906214|PMID:7689389|PMID:8285309|PMID:8414970|PMID:8687424|PMID:8817331|PMID:9039999|PMID:9111378|PMID:9164619|PMID:9315872|PMID:9391883|PMID:9490575|PMID:9779807|PMID:9831149|PMID:9887373|PMID:9915970|PMID:9950117 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:0111751 mitochondrial nonsyndromic sensorineural deafness ISO RGD:1349540 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, nonsyndromic sensorineural, mitochondrial PMID:10521300|PMID:10577941|PMID:10633132|PMID:10661905|PMID:10788333|PMID:10915767|PMID:11174059|PMID:11230176|PMID:11388757|PMID:11857751|PMID:11870684|PMID:12031626|PMID:12054632|PMID:12127547|PMID:12372057|PMID:12624722|PMID:12655418|PMID:12920080|PMID:12939650|PMID:12955586|PMID:14699607|PMID:14755216|PMID:15708009|PMID:15841390|PMID:15917167|PMID:1613771|PMID:16152638|PMID:16168391|PMID:16375862|PMID:16458854|PMID:16631122|PMID:16826519|PMID:16935512|PMID:16955413|PMID:17341440|PMID:17637808|PMID:17723226|PMID:17999439|PMID:18386806|PMID:18790089|PMID:18820594|PMID:18830133|PMID:18983818|PMID:19196684|PMID:19196685|PMID:19376484|PMID:19475720|PMID:19687236|PMID:19818876|PMID:19835846|PMID:20100600|PMID:20111055|PMID:20172897|PMID:20301595|PMID:20353758|PMID:20416460|PMID:21047563|PMID:21162657|PMID:21205314|PMID:21329993|PMID:21495045|PMID:21504270|PMID:21725156|PMID:21777984|PMID:21811586|PMID:21828074|PMID:22223843|PMID:22241583|PMID:22475488|PMID:22879993|PMID:22992668|PMID:23256547|PMID:23525847|PMID:24033266|PMID:24252789|PMID:24651602|PMID:24703164|PMID:25155176|PMID:25515069|PMID:25741868|PMID:25744662|PMID:26497601|PMID:26822237|PMID:27427311|PMID:28049726|PMID:28520359|PMID:29805548|PMID:32906214|PMID:7689389|PMID:8285309|PMID:8414970|PMID:8687424|PMID:8817331|PMID:9039999|PMID:9111378|PMID:9164619|PMID:9315872|PMID:9391883|PMID:9490575|PMID:9779807|PMID:9831149|PMID:9887373|PMID:9915970|PMID:9950117 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:10632 Wolfram syndrome ISO RGD:1349540 D RGD:9068941 20200609 RGD DNA:snp:cds:m.4216T>C (human) PMID:9309689|REF_RGD_ID:5490247 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:10652 Alzheimer's disease ISO RGD:1349540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:15972314|PMID:8104867 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:1073 renal hypertension ISO RGD:1349540 D RGD:9068941 20200609 RGD DNA:missense mutation PMID:18194667|REF_RGD_ID:2300400 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:12010 anterior ischemic optic neuropathy ISO RGD:1349540 D RGD:9068941 20200609 RGD DNA:snp:cds:m.4132G>A (human) PMID:17454741|REF_RGD_ID:5490236 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:12705 Friedreich ataxia ISO RGD:1349540 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:m.3696C>T (human) PMID:18807169|REF_RGD_ID:5490251 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:14115 toxic shock syndrome susceptibility ISO RGD:1349540 D RGD:9068941 20200609 RGD associated with Burns; DNA:missense mutation:cds:m.4216T>C (human) PMID:19487983|REF_RGD_ID:5148017 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:14330 Parkinson's disease ISO RGD:1349540 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:m.4216T>C (human) PMID:11022854|REF_RGD_ID:5148018 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:14330 Parkinson's disease ISO RGD:1349540 D RGD:9068941 20200609 RGD mRNA:decreased expression:substantia nigra, neuron PMID:11506395|REF_RGD_ID:8657117 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:14330 Parkinson's disease no_association ISO RGD:1349540 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:m.4216T>C (human) PMID:16784756|REF_RGD_ID:5508706 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1349540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber's disease PMID:11854175|PMID:1550131|PMID:16738010|PMID:1674640|PMID:1732158|PMID:1734726|PMID:17620555|PMID:1900003|PMID:1928099|PMID:1959619|PMID:20301353|PMID:25741868|PMID:30143805|PMID:8496715 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:1520 colon carcinoma ISO RGD:1349540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:10519336|PMID:10521313|PMID:13298683|PMID:15972314|PMID:24146900|PMID:26467025|PMID:9299504|PMID:9806551 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:1891 optic nerve disease ISO RGD:1349540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic nerve disorder PMID:20301353|PMID:30143805 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:2377 multiple sclerosis ISO RGD:1349540 D RGD:9068941 20200609 RGD DNA:amplification:cds:cerebral gray matter (human) PMID:18566918|REF_RGD_ID:5490252 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:3312 bipolar disorder ISO RGD:1349540 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:m.3644T>C (human) PMID:15533721|REF_RGD_ID:5490261 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:1609862 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (mouse) PMID:10581412|REF_RGD_ID:5490286 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:3652 Leigh disease ISO RGD:1349540 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:10519336|PMID:10520236|PMID:10521313|PMID:10704697|PMID:11238687|PMID:11854175|PMID:11938495|PMID:12160969|PMID:12406974|PMID:12610069|PMID:12756609|PMID:13298683|PMID:1417830|PMID:1442494|PMID:14681830|PMID:15465027|PMID:15466014|PMID:1550131|PMID:15896721|PMID:15972314|PMID:15977098|PMID:16050984|PMID:16738010|PMID:1674640|PMID:16807713|PMID:16828917|PMID:16849371|PMID:16895436|PMID:16949108|PMID:1732158|PMID:1734726|PMID:17454741|PMID:17517629|PMID:17535832|PMID:17620555|PMID:17637808|PMID:18216301|PMID:18502698|PMID:18504678|PMID:18691441|PMID:18977334|PMID:1900003|PMID:1928099|PMID:1959619|PMID:20211276|PMID:20301353|PMID:20643099|PMID:20978534|PMID:21129724|PMID:21144833|PMID:21296687|PMID:21364701|PMID:22241583|PMID:22780954|PMID:23246842|PMID:24063851|PMID:24146900|PMID:24153443|PMID:24986921|PMID:25741868|PMID:26262956|PMID:26428318|PMID:26467025|PMID:27177320|PMID:27343181|PMID:28187756|PMID:28708239|PMID:28821228|PMID:29330893|PMID:30143805|PMID:32906214|PMID:8104867|PMID:8496715|PMID:9299504|PMID:9806551 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:3687 MELAS syndrome ISO RGD:1349540 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes PMID:15466014|PMID:15972314|PMID:16849371|PMID:16969869|PMID:17535832|PMID:17562939|PMID:18504678|PMID:18590963|PMID:18977334|PMID:20301353|PMID:21364701|PMID:24830958|PMID:25741868|PMID:30143805|PMID:32906214 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:397 restrictive cardiomyopathy ISO RGD:1349540 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:10521300|PMID:10577941|PMID:10633132|PMID:10661905|PMID:10788333|PMID:10915767|PMID:11174059|PMID:11230176|PMID:11388757|PMID:11857751|PMID:11870684|PMID:12031626|PMID:12054632|PMID:12127547|PMID:12372057|PMID:12624722|PMID:12655418|PMID:12920080|PMID:12939650|PMID:12955586|PMID:14699607|PMID:14755216|PMID:15708009|PMID:15841390|PMID:15917167|PMID:1613771|PMID:16152638|PMID:16168391|PMID:16375862|PMID:16458854|PMID:16631122|PMID:16826519|PMID:16935512|PMID:16955413|PMID:17341440|PMID:17637808|PMID:17723226|PMID:17999439|PMID:18386806|PMID:18790089|PMID:18820594|PMID:18830133|PMID:18983818|PMID:19196684|PMID:19196685|PMID:19376484|PMID:19475720|PMID:19687236|PMID:19818876|PMID:19835846|PMID:20100600|PMID:20111055|PMID:20172897|PMID:20301595|PMID:20353758|PMID:20416460|PMID:21047563|PMID:21162657|PMID:21205314|PMID:21329993|PMID:21495045|PMID:21504270|PMID:21725156|PMID:21777984|PMID:21811586|PMID:21828074|PMID:22223843|PMID:22475488|PMID:22879993|PMID:22992668|PMID:23256547|PMID:23525847|PMID:24033266|PMID:24252789|PMID:24651602|PMID:24703164|PMID:25155176|PMID:25515069|PMID:25741868|PMID:25744662|PMID:26497601|PMID:26822237|PMID:27427311|PMID:28049726|PMID:28520359|PMID:29805548|PMID:32906214|PMID:7689389|PMID:8285309|PMID:8414970|PMID:8687424|PMID:8817331|PMID:9039999|PMID:9111378|PMID:9164619|PMID:9315872|PMID:9391883|PMID:9490575|PMID:9779807|PMID:9831149|PMID:9887373|PMID:9915970|PMID:9950117 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:543 dystonia ISO RGD:1349540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia, adult-onset PMID:11938495|PMID:12756609|PMID:26467025|PMID:28821228 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:574 peripheral nervous system disease ISO RGD:1349540 D RGD:9068941 20200609 RGD associated with HIV Infections; DNA:missense mutation:cds:m.4216T>C (human) PMID:17684475|REF_RGD_ID:5490230 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:1349540 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder | ClinVar Annotator: match by term: mitochondrial disorder PMID:10521300|PMID:10577941|PMID:10633132|PMID:10661905|PMID:10788333|PMID:10915767|PMID:11174059|PMID:11230176|PMID:11388757|PMID:11479733|PMID:11857751|PMID:11870684|PMID:12031626|PMID:12054632|PMID:12112111|PMID:12127547|PMID:12372057|PMID:12624722|PMID:12655418|PMID:12920080|PMID:12939650|PMID:12955586|PMID:14699607|PMID:14755216|PMID:15466014|PMID:15505787|PMID:15708009|PMID:15841390|PMID:15917167|PMID:15972314|PMID:1613771|PMID:16152638|PMID:16168391|PMID:16375862|PMID:16458854|PMID:16631122|PMID:16826519|PMID:16935512|PMID:16955413|PMID:16969869|PMID:17341440|PMID:17562939|PMID:17637808|PMID:17723226|PMID:17999439|PMID:18386806|PMID:18790089|PMID:18820594|PMID:18830133|PMID:18983818|PMID:19196684|PMID:19196685|PMID:19376484|PMID:19475720|PMID:19497304|PMID:19555656|PMID:19687236|PMID:19818876|PMID:19835846|PMID:20100600|PMID:20111055|PMID:20172897|PMID:20301353|PMID:20301595|PMID:20353758|PMID:20416460|PMID:21047563|PMID:21162657|PMID:21205314|PMID:21329993|PMID:21495045|PMID:21504270|PMID:21725156|PMID:21777984|PMID:21811586|PMID:21828074|PMID:22223843|PMID:22475488|PMID:22879922|PMID:22879993|PMID:22992668|PMID:23246842|PMID:23256547|PMID:23525847|PMID:24033266|PMID:24252789|PMID:24651602|PMID:24703164|PMID:24830958|PMID:24884847|PMID:25155176|PMID:25194554|PMID:25515069|PMID:25741868|PMID:25744662|PMID:26497601|PMID:26822237|PMID:27427311|PMID:28049726|PMID:28520359|PMID:29805548|PMID:30143805|PMID:32906214|PMID:7689389|PMID:8285309|PMID:8414970|PMID:8687424|PMID:8817331|PMID:9039999|PMID:9111378|PMID:9164619|PMID:9315872|PMID:9391883|PMID:9490575|PMID:9779807|PMID:9831149|PMID:9887373|PMID:9915970|PMID:9950117 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1349540 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia | ClinVar Annotator: match by term: Leber's disease | ClinVar Annotator: match by term: Leber's optic atrophy PMID:11479733|PMID:11854175|PMID:12112111|PMID:1417830|PMID:1442494|PMID:15466014|PMID:1550131|PMID:15505787|PMID:15972314|PMID:16738010|PMID:1674640|PMID:16849371|PMID:16969869|PMID:1732158|PMID:1734726|PMID:17562939|PMID:17620555|PMID:18216301|PMID:1900003|PMID:1928099|PMID:19497304|PMID:19555656|PMID:1959619|PMID:20301353|PMID:21364701|PMID:22879922|PMID:24830958|PMID:24884847|PMID:25194554|PMID:25741868|PMID:30143805|PMID:32906214|PMID:8496715 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1349540 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:15987486|REF_RGD_ID:5490238 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1349540 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:11854175|PMID:1550131|PMID:16738010|PMID:1674640|PMID:1732158|PMID:1734726|PMID:17620555|PMID:17637808|PMID:1900003|PMID:1928099|PMID:1959619|PMID:20301353|PMID:22241583|PMID:25741868|PMID:30143805|PMID:8496715 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:9000973 Maternally Inherited Leigh Syndrome ISO RGD:1349540 D RGD:9068941 20200609 RGD DNA:snps:cds:p.E59K, p.R159Q (human) PMID:20301352|REF_RGD_ID:5148009 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1349540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563825 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:9007 sudden infant death syndrome ISO RGD:1349540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:10519336|PMID:10521313|PMID:12160969|PMID:13298683|PMID:15972314|PMID:24146900|PMID:26467025|PMID:9299504|PMID:9806551 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:9007527 Mitochondrial Myopathy, Infantile, Transient ISO RGD:1349540 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient | ClinVar Annotator: match by term: RESPIRATORY CHAIN DEFICIENCY, INFANTILE, TRANSIENT PMID:25741868 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1349540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28027978 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349540 D RGD:9068941 20200609 RGD DNA:SNP: :3394T>C (human) PMID:18679013|REF_RGD_ID:2311583 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349540 D RGD:9068941 20200609 RGD DNA:polymorphism: :3316G>A, 3394T>C (human) PMID:15265369|REF_RGD_ID:2311592 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:620555 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:soleus, mitochondrion PMID:14563825|REF_RGD_ID:2300410 12276343 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:9970 obesity ISO RGD:1349540 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.A64V (human) PMID:16060290|REF_RGD_ID:2300401 12276345 NDUFB2 NADH:ubiquinone oxidoreductase subunit B2 gene DOID:0080690 RASopathy ISO RGD:1317724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12276345 NDUFB2 NADH:ubiquinone oxidoreductase subunit B2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12276345 NDUFB2 NADH:ubiquinone oxidoreductase subunit B2 gene DOID:630 genetic disease ISO RGD:1317724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276353 CIMAP1B ciliary microtubule associated protein 1B gene DOID:0060041 autism spectrum disorder ISO RGD:1606628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12276353 CIMAP1B ciliary microtubule associated protein 1B gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1606628 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12276353 CIMAP1B ciliary microtubule associated protein 1B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1606628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12276353 CIMAP1B ciliary microtubule associated protein 1B gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1606628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12276353 CIMAP1B ciliary microtubule associated protein 1B gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1606628 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 12276353 CIMAP1B ciliary microtubule associated protein 1B gene DOID:10581 metachromatic leukodystrophy ISO RGD:1606628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12276353 CIMAP1B ciliary microtubule associated protein 1B gene DOID:1059 intellectual disability ISO RGD:1606628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12276353 CIMAP1B ciliary microtubule associated protein 1B gene DOID:11612 polycystic ovary syndrome ISO RGD:1606628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12276353 CIMAP1B ciliary microtubule associated protein 1B gene DOID:630 genetic disease ISO RGD:1606628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276421 MT2A metallothionein 1H gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1352146 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12276421 MT2A metallothionein 1H gene DOID:0060496 respiratory allergy ISO RGD:1617617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085522 12276421 MT2A metallothionein 1H gene DOID:0080600 COVID-19 ISO RGD:1352146 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD14 monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12276421 MT2A metallothionein 1H gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1352146 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12276421 MT2A metallothionein 1H gene DOID:10584 retinitis pigmentosa ISO RGD:1592345 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (rat) PMID:20357188|REF_RGD_ID:6483819 12276421 MT2A metallothionein 1H gene DOID:10584 retinitis pigmentosa ISO RGD:1617617 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (mouse) PMID:20357188|REF_RGD_ID:6483819 12276421 MT2A metallothionein 1H gene DOID:10652 Alzheimer's disease ISO RGD:1592345 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex (rat) PMID:16914836|REF_RGD_ID:10412320 12276421 MT2A metallothionein 1H gene DOID:10652 Alzheimer's disease ISO RGD:1617617 D RGD:9068941 20200609 RGD PMID:22766972|REF_RGD_ID:10412319 12276421 MT2A metallothionein 1H gene DOID:1074 kidney failure ISO RGD:1592345 D RGD:9068941 20200609 RGD associated with Cadmium Poisoning;mRNA:increased expression:kidney PMID:16226777|REF_RGD_ID:6483854 12276421 MT2A metallothionein 1H gene DOID:11054 urinary bladder cancer ISO RGD:1352146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16565513|PMID:7729958 12276421 MT2A metallothionein 1H gene DOID:11394 adult respiratory distress syndrome ISO RGD:1352146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12276421 MT2A metallothionein 1H gene DOID:114 heart disease ISO RGD:1352146 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16144979 12276421 MT2A metallothionein 1H gene DOID:11573 listeriosis ISO RGD:1617617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19576872 12276421 MT2A metallothionein 1H gene DOID:1222 cartilage disease ISO RGD:1617617 D RGD:9068941 20200609 RGD Auricular Chondritis; mRNA:increased expression:ear (mouse) PMID:17606507|REF_RGD_ID:6483833 12276421 MT2A metallothionein 1H gene DOID:13001 carotid stenosis ISO RGD:1352146 D RGD:9068941 20200609 RGD DNA:snp:5' utr:g.+838C>G (human) PMID:17622311|REF_RGD_ID:6483844 12276421 MT2A metallothionein 1H gene DOID:1561 cognitive disorder ISO RGD:1617617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18226494 12276421 MT2A metallothionein 1H gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352146 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12276421 MT2A metallothionein 1H gene DOID:224 transient cerebral ischemia ISO RGD:1592345 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:10884303|REF_RGD_ID:10412650 12276421 MT2A metallothionein 1H gene DOID:2468 psychotic disorder ISO RGD:1352146 D RGD:9068941 20200609 RGD mRNA:increased expression:prefrontal cortex (human) PMID:18992145|REF_RGD_ID:6480540 12276421 MT2A metallothionein 1H gene DOID:332 amyotrophic lateral sclerosis onset ISO RGD:1617617 D RGD:9068941 20200609 RGD mRNA:increased expression:soleus muscle, gastrocnemius muscle (mouse) PMID:18000159|REF_RGD_ID:6482832 12276421 MT2A metallothionein 1H gene DOID:3770 pulmonary fibrosis ISO RGD:1617617 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18528683 12276421 MT2A metallothionein 1H gene DOID:480 movement disease ISO RGD:1617617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16216453 12276421 MT2A metallothionein 1H gene DOID:571 median neuropathy ISO RGD:1592345 D RGD:9068941 20200609 RGD mRNA:decreased expression:left median nerve (rat) PMID:22253198|REF_RGD_ID:6483815 12276421 MT2A metallothionein 1H gene DOID:630 genetic disease ISO RGD:1352146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276421 MT2A metallothionein 1H gene DOID:684 hepatocellular carcinoma ISO RGD:1352146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17363595|PMID:28284560 12276421 MT2A metallothionein 1H gene DOID:784 chronic kidney disease ISO RGD:1352146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27122239 12276421 MT2A metallothionein 1H gene DOID:8466 retinal degeneration ISO RGD:1617617 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:23132798|REF_RGD_ID:10412646 12276421 MT2A metallothionein 1H gene DOID:8634 prostate carcinoma in situ ISO RGD:1352146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16574721 12276421 MT2A metallothionein 1H gene DOID:8927 learning disability ISO RGD:1617617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16216453 12276421 MT2A metallothionein 1H gene DOID:9000217 Stomach Neoplasms ISO RGD:1352146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14503839 12276421 MT2A metallothionein 1H gene DOID:9000310 Lung Injury ISO RGD:1617617 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18528683 12276421 MT2A metallothionein 1H gene DOID:9000310 Lung Injury ISO RGD:1617617 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:17215068|REF_RGD_ID:6483842 12276421 MT2A metallothionein 1H gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1352146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27122239 12276421 MT2A metallothionein 1H gene DOID:9000998 Brain Injuries ISO RGD:1592345 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus (rat) PMID:15650329|REF_RGD_ID:6483847 12276421 MT2A metallothionein 1H gene DOID:9000998 Brain Injuries ISO RGD:1617617 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (mouse) PMID:22363575|REF_RGD_ID:6483812 12276421 MT2A metallothionein 1H gene DOID:9001553 Spinal Cord Compression ISO RGD:1617617 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord (mouse) PMID:15592854|REF_RGD_ID:6483848 12276421 MT2A metallothionein 1H gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12276421 MT2A metallothionein 1H gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16574721|PMID:17914565 12276421 MT2A metallothionein 1H gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1592345 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex, striatum (rat) PMID:16034371|REF_RGD_ID:2306905 12276421 MT2A metallothionein 1H gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1617617 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (mouse) PMID:19619133|REF_RGD_ID:6484112 12276421 MT2A metallothionein 1H gene DOID:9002955 Nerve Degeneration ISO RGD:1617617 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11835189 12276421 MT2A metallothionein 1H gene DOID:9003936 Cardiomegaly ISO RGD:1352146 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11309296 12276421 MT2A metallothionein 1H gene DOID:9004009 Reperfusion Injury ISO RGD:1617617 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebrum (mouse) PMID:12122050|REF_RGD_ID:6483850 12276421 MT2A metallothionein 1H gene DOID:9004484 Sepsis ISO RGD:1617617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374846 12276421 MT2A metallothionein 1H gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1352146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21187089 12276421 MT2A metallothionein 1H gene DOID:9004610 Acute Lung Injury ISO RGD:1617617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16166738 12276421 MT2A metallothionein 1H gene DOID:9004634 Cardiac Output, Low ISO RGD:1617617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30096613 12276421 MT2A metallothionein 1H gene DOID:9004713 Acute-Phase Reaction ISO RGD:1592345 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:10535526|REF_RGD_ID:6484135 12276421 MT2A metallothionein 1H gene DOID:9005930 Endotoxemia ISO RGD:1592345 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:22100509|REF_RGD_ID:6483852 12276421 MT2A metallothionein 1H gene DOID:9007480 Hyperoxia ISO RGD:1617617 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:8110467|REF_RGD_ID:6484136 12276421 MT2A metallothionein 1H gene DOID:9351 diabetes mellitus ISO RGD:1352146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27122239 12276421 MT2A metallothionein 1H gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352146 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.K51R (rs8052394) (human) PMID:18349110|REF_RGD_ID:6483853 12276421 MT2A metallothionein 1H gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352146 D RGD:9068941 20200609 RGD associated with Atherosclerosis; DNA:snp:promoter:g.-209A>G (human) PMID:16518702|REF_RGD_ID:6483843 12276421 MT2A metallothionein 1H gene DOID:9669 senile cataract ISO RGD:1352146 D RGD:9068941 20200609 RGD PMID:9804143|REF_RGD_ID:10412648 12276428 MEA1 male-enhanced antigen 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1346327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12276428 MEA1 male-enhanced antigen 1 gene DOID:0070065 autosomal dominant intellectual developmental disorder 35 ISO RGD:1346327 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 35 PMID:25741868 12276428 MEA1 male-enhanced antigen 1 gene DOID:1059 intellectual disability ISO RGD:1346327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:28492532|PMID:30676711|PMID:34906502 12276428 MEA1 male-enhanced antigen 1 gene DOID:630 genetic disease ISO RGD:1346327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276428 MEA1 male-enhanced antigen 1 gene DOID:905 Zellweger syndrome ISO RGD:1346327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12276442 MMUT methylmalonyl-CoA mutase gene DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ISO RGD:1344450 D RGD:7240710 20180130 OMIM 12276442 MMUT methylmalonyl-CoA mutase gene DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ISO RGD:1344450 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(-) TYPE | ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(0) TYPE | ClinVar Annotator: match by term: Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency | ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency PMID:10923046|PMID:11350191|PMID:11528502|PMID:12402345|PMID:1346616|PMID:1351030|PMID:15643616|PMID:15781192|PMID:15781199|PMID:16199547|PMID:16281286|PMID:16435223|PMID:16451139|PMID:16490061|PMID:1670635|PMID:17075691|PMID:17113806|PMID:17410422|PMID:17432548|PMID:17445044|PMID:17470278|PMID:17576681|PMID:17823972|PMID:17948227|PMID:17957493|PMID:17966092|PMID:19088183|PMID:19375370|PMID:1970180|PMID:1977311|PMID:19955418|PMID:20301409|PMID:20549364|PMID:20603089|PMID:21048060|PMID:21114891|PMID:21671183|PMID:22614770|PMID:22695176|PMID:22727635|PMID:23024777|PMID:23045948|PMID:23430940|PMID:23479330|PMID:23729607|PMID:24033266|PMID:24059531|PMID:24330302|PMID:24464670|PMID:2453061|PMID:24865477|PMID:25087612|PMID:25125334|PMID:25299208|PMID:25525159|PMID:25689098|PMID:25736335|PMID:25741868|PMID:25750861|PMID:25771389|PMID:25959030|PMID:26174677|PMID:26270765|PMID:26318470|PMID:26420839|PMID:26454439|PMID:26483233|PMID:2661559|PMID:26615597|PMID:26790480|PMID:27060300|PMID:27167370|PMID:27233228|PMID:27489777|PMID:27578510|PMID:27591164|PMID:27751223|PMID:27884173|PMID:28101778|PMID:28468868|PMID:28492532|PMID:28811685|PMID:2881300|PMID:29158924|PMID:29896740|PMID:30022420|PMID:30041674|PMID:30209273|PMID:30577886|PMID:30712249|PMID:30728829|PMID:31466887|PMID:31525265|PMID:31622506|PMID:31757659|PMID:31813137|PMID:32451238|PMID:32754920|PMID:7602808|PMID:7909321|PMID:7912889|PMID:7951229|PMID:8880917|PMID:8990001|PMID:9285782|PMID:9536098|PMID:9554742|PMID:9929975 12276442 MMUT methylmalonyl-CoA mutase gene DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency treatment ISO RGD:1558195 D RGD:9068941 20200609 RGD PMID:19861951|REF_RGD_ID:13208535 12276442 MMUT methylmalonyl-CoA mutase gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1344450 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY PMID:15643616|PMID:16281286|PMID:16490061|PMID:17075691|PMID:17113806|PMID:17445044|PMID:17957493|PMID:20549364|PMID:22727635|PMID:24059531|PMID:25741868|PMID:26454439|PMID:27233228|PMID:27489777|PMID:28492532 12276442 MMUT methylmalonyl-CoA mutase gene DOID:0080483 peroxisome biogenesis disorder 8A ISO RGD:1344450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A (Zellweger) PMID:25741868|PMID:28492532 12276442 MMUT methylmalonyl-CoA mutase gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1344450 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:16281286|PMID:16490061|PMID:17075691|PMID:17445044|PMID:22727635|PMID:25741868|PMID:26454439|PMID:27233228|PMID:27489777|PMID:28492532 12276442 MMUT methylmalonyl-CoA mutase gene DOID:14749 methylmalonic acidemia ISO RGD:1344450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:10923046|PMID:11350191|PMID:11528502|PMID:12402345|PMID:1346616|PMID:1351030|PMID:15643616|PMID:15781192|PMID:15781199|PMID:16199547|PMID:16281286|PMID:16435223|PMID:16490061|PMID:1670635|PMID:17075691|PMID:17113806|PMID:17410422|PMID:17445044|PMID:17470278|PMID:17957493|PMID:19088183|PMID:19375370|PMID:1970180|PMID:1977311|PMID:19955418|PMID:20549364|PMID:20603089|PMID:21048060|PMID:21114891|PMID:22614770|PMID:22727635|PMID:23024777|PMID:23045948|PMID:23430940|PMID:23479330|PMID:23729607|PMID:24033266|PMID:24059531|PMID:24464670|PMID:2453061|PMID:24865477|PMID:25087612|PMID:25125334|PMID:25299208|PMID:25525159|PMID:25689098|PMID:25741868|PMID:25750861|PMID:25771389|PMID:25959030|PMID:26270765|PMID:26420839|PMID:26454439|PMID:2661559|PMID:26615597|PMID:26790480|PMID:27167370|PMID:27233228|PMID:27489777|PMID:27578510|PMID:27591164|PMID:27751223|PMID:28468868|PMID:28492532|PMID:28811685|PMID:2881300|PMID:30041674|PMID:30080956|PMID:30209273|PMID:31525265|PMID:31622506|PMID:31757659|PMID:32451238|PMID:33413471|PMID:7909321|PMID:7912889|PMID:8880917|PMID:8990001|PMID:9285782|PMID:9929975 12276442 MMUT methylmalonyl-CoA mutase gene DOID:630 genetic disease ISO RGD:1344450 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12276442 MMUT methylmalonyl-CoA mutase gene DOID:655 inherited metabolic disorder ISO RGD:1344450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19427250 12276442 MMUT methylmalonyl-CoA mutase gene DOID:936 brain disease ISO RGD:1344450 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 12276442 MMUT methylmalonyl-CoA mutase gene DOID:9970 obesity ISO RGD:1344450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12276465 YPEL5 yippee like 5 gene DOID:630 genetic disease ISO RGD:1320113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276479 GTSF1 gametocyte specific factor 1 gene DOID:630 genetic disease ISO RGD:1605883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276501 DKK2 dickkopf WNT signaling pathway inhibitor 2 gene DOID:630 genetic disease ISO RGD:1344026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276509 PRMT7 protein arginine methyltransferase 7 gene DOID:0050581 brachydactyly ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 12276509 PRMT7 protein arginine methyltransferase 7 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1601867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12276509 PRMT7 protein arginine methyltransferase 7 gene DOID:0080006 bone development disease ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 12276509 PRMT7 protein arginine methyltransferase 7 gene DOID:0080204 renal hypoplasia ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal hypoplasia PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 12276509 PRMT7 protein arginine methyltransferase 7 gene DOID:1059 intellectual disability ISO RGD:1601867 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:28492532 12276509 PRMT7 protein arginine methyltransferase 7 gene DOID:1059 intellectual disability ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 12276509 PRMT7 protein arginine methyltransferase 7 gene DOID:1168 familial hyperlipidemia ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperlipidemia PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 12276509 PRMT7 protein arginine methyltransferase 7 gene DOID:3138 acanthosis nigricans ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acanthosis nigricans PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 12276509 PRMT7 protein arginine methyltransferase 7 gene DOID:630 genetic disease ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 12276509 PRMT7 protein arginine methyltransferase 7 gene DOID:9001793 Generalized Epilepsy ISO RGD:1601867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 12276509 PRMT7 protein arginine methyltransferase 7 gene DOID:9002745 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures ISO RGD:1601867 D RGD:7240710 20190315 OMIM 12276509 PRMT7 protein arginine methyltransferase 7 gene DOID:9002745 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature, brachydactyly, intellectual developmental disability, and seizures PMID:16199547|PMID:25741868|PMID:2643702|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392|PMID:34244600 12276509 PRMT7 protein arginine methyltransferase 7 gene DOID:9003808 Progressive Myoclonus Epilepsy 12 ISO RGD:1601867 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12 PMID:25741868|PMID:33085104 12276509 PRMT7 protein arginine methyltransferase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:16199547|PMID:25741868|PMID:2643702|PMID:26437029|PMID:27718516|PMID:28492532 12276509 PRMT7 protein arginine methyltransferase 7 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1601867 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Generalized myoclonic seizures PMID:25741868|PMID:33085104 12276509 PRMT7 protein arginine methyltransferase 7 gene DOID:9007661 Dwarfism ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 12276509 PRMT7 protein arginine methyltransferase 7 gene DOID:9007692 Insulin Resistance ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Insulin resistance PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 12276509 PRMT7 protein arginine methyltransferase 7 gene DOID:9970 obesity ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 12276541 PIGC phosphatidylinositol glycan anchor biosynthesis class C gene DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 ISO RGD:1322738 D RGD:7240710 20190315 OMIM 12276541 PIGC phosphatidylinositol glycan anchor biosynthesis class C gene DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 ISO RGD:1322738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 16 PMID:25741868|PMID:25741900|PMID:27694521|PMID:28492532 12276541 PIGC phosphatidylinositol glycan anchor biosynthesis class C gene DOID:1540 parathyroid carcinoma ISO RGD:1322738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12276541 PIGC phosphatidylinositol glycan anchor biosynthesis class C gene DOID:630 genetic disease ISO RGD:1322738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12276541 PIGC phosphatidylinositol glycan anchor biosynthesis class C gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1322738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 12276541 PIGC phosphatidylinositol glycan anchor biosynthesis class C gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1322738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12276541 PIGC phosphatidylinositol glycan anchor biosynthesis class C gene DOID:9008086 Developmental Disabilities ISO RGD:1322738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741900 12276541 PIGC phosphatidylinositol glycan anchor biosynthesis class C gene DOID:9008386 Hydrops Fetalis ISO RGD:1322738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 12276541 PIGC phosphatidylinositol glycan anchor biosynthesis class C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12276553 GGNBP2 gametogenetin binding protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1343556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 12276553 GGNBP2 gametogenetin binding protein 2 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1343556 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 12276553 GGNBP2 gametogenetin binding protein 2 gene DOID:12849 autistic disorder ISO RGD:1343556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12276553 GGNBP2 gametogenetin binding protein 2 gene DOID:5419 schizophrenia ISO RGD:1343556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12276553 GGNBP2 gametogenetin binding protein 2 gene DOID:630 genetic disease ISO RGD:1343556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276553 GGNBP2 gametogenetin binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12276553 GGNBP2 gametogenetin binding protein 2 gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1343556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 12276553 GGNBP2 gametogenetin binding protein 2 gene DOID:9008582 Developmental Disease ISO RGD:1343556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12276579 SDF2 stromal cell derived factor 2 gene DOID:630 genetic disease ISO RGD:1316372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276586 RANGAP1 Ran GTPase activating protein 1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1321254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27150054 12276586 RANGAP1 Ran GTPase activating protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1321254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12276586 RANGAP1 Ran GTPase activating protein 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1321254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 12276586 RANGAP1 Ran GTPase activating protein 1 gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1321254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:28492532 12276586 RANGAP1 Ran GTPase activating protein 1 gene DOID:11446 sciatic neuropathy ISO RGD:1310380 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve, axon, cytoplasm (rat) PMID:18667152|REF_RGD_ID:9835000 12276586 RANGAP1 Ran GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1321254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276586 RANGAP1 Ran GTPase activating protein 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:1310380 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery, intima (rat) PMID:24988324|REF_RGD_ID:9835414 12276615 UBAP2 ubiquitin associated protein 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1323319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12276615 UBAP2 ubiquitin associated protein 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1323319 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12276615 UBAP2 ubiquitin associated protein 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1323319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12276615 UBAP2 ubiquitin associated protein 2 gene DOID:630 genetic disease ISO RGD:1323319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276615 UBAP2 ubiquitin associated protein 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1323319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12276615 UBAP2 ubiquitin associated protein 2 gene DOID:9870 galactosemia ISO RGD:1323319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12276656 TBX20 T-box transcription factor 20 gene DOID:0070315 hypoplastic right heart syndrome ISO RGD:1319719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoplastic right heart syndrome 12276656 TBX20 T-box transcription factor 20 gene DOID:0080333 aortic valve disease 1 ISO RGD:1319719 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Aortic valve disease 1 PMID:19762328|PMID:25741868|PMID:27510170|PMID:27642787|PMID:28553164|PMID:30820038 12276656 TBX20 T-box transcription factor 20 gene DOID:0110109 atrial heart septal defect 4 ISO RGD:1319719 D RGD:7240710 20180130 OMIM 12276656 TBX20 T-box transcription factor 20 gene DOID:0110109 atrial heart septal defect 4 ISO RGD:1319719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial septal defect 4 PMID:17668378|PMID:18834961|PMID:19074289|PMID:19762328|PMID:25741868|PMID:27510170|PMID:27642787|PMID:28492532|PMID:28553164|PMID:29089047|PMID:29517769|PMID:30820038 12276656 TBX20 T-box transcription factor 20 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319719 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:29089047|PMID:31333075|PMID:31568572 12276656 TBX20 T-box transcription factor 20 gene DOID:1657 ventricular septal defect ISO RGD:1319719 D RGD:9068941 20230202 RGD DNA:hypomethylation:promoter PMID:30084275|REF_RGD_ID:155882594 12276656 TBX20 T-box transcription factor 20 gene DOID:1682 congenital heart disease ISO RGD:1319719 D RGD:9068941 20230202 RGD mRNA,protein:decreased expression:heart (human) PMID:27572266|REF_RGD_ID:155882587 12276656 TBX20 T-box transcription factor 20 gene DOID:1682 congenital heart disease susceptibility ISO RGD:1319719 D RGD:9068941 20230202 RGD DNA:SNP,haplotype:promoter: PMID:27034249|REF_RGD_ID:155882589 12276656 TBX20 T-box transcription factor 20 gene DOID:1682 congenital heart disease susceptibility ISO RGD:1319719 D RGD:9068941 20230202 RGD DNA:SNPs:exon5: c.657A>C (rs3999941) PMID:25487630|REF_RGD_ID:155882596 12276656 TBX20 T-box transcription factor 20 gene DOID:1882 atrial heart septal defect susceptibility ISO RGD:1319719 D RGD:9068941 20230202 RGD DNA:SNPs, haplotype: (rs17675131, rs4720169) (human) PMID:26675025|REF_RGD_ID:155882600 12276656 TBX20 T-box transcription factor 20 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1319719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 12276656 TBX20 T-box transcription factor 20 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12276656 TBX20 T-box transcription factor 20 gene DOID:6000 congestive heart failure ISO RGD:1319719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12276656 TBX20 T-box transcription factor 20 gene DOID:630 genetic disease ISO RGD:1319719 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28049825|PMID:28492532|PMID:29089047|PMID:34426522 12276656 TBX20 T-box transcription factor 20 gene DOID:6419 tetralogy of Fallot ISO RGD:1319719 D RGD:9068941 20230202 RGD DNA:hypomethylation:promoter PMID:31138201|REF_RGD_ID:155882584 12276656 TBX20 T-box transcription factor 20 gene DOID:6419 tetralogy of Fallot ISO RGD:1319719 D RGD:9068941 20230202 RGD mRNA:increased expression:heart (human) PMID:18275040|REF_RGD_ID:155882585 12276656 TBX20 T-box transcription factor 20 gene DOID:9003936 Cardiomegaly ISO RGD:1319719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12276656 TBX20 T-box transcription factor 20 gene DOID:9006205 Animal Disease Models ISO RGD:1319719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12276656 TBX20 T-box transcription factor 20 gene DOID:9007174 Ventricular Remodeling ISO RGD:1319719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12276656 TBX20 T-box transcription factor 20 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1319719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome 12276668 XKR5 XK related 5 gene DOID:630 genetic disease ISO RGD:1604445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276678 ELL elongation factor for RNA polymerase II gene DOID:630 genetic disease ISO RGD:1322410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276678 ELL elongation factor for RNA polymerase II gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1322410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12276697 DDIAS DNA damage induced apoptosis suppressor gene DOID:1059 intellectual disability ISO RGD:1602966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12276697 DDIAS DNA damage induced apoptosis suppressor gene DOID:630 genetic disease ISO RGD:1602966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276715 ELOVL3 ELOVL fatty acid elongase 3 gene DOID:630 genetic disease ISO RGD:1316352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276730 H1-5 H1.5 linker histone, cluster member gene DOID:630 genetic disease ISO RGD:1351111 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276735 RETREG2 reticulophagy regulator family member 2 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1315689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12276735 RETREG2 reticulophagy regulator family member 2 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1315689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12276735 RETREG2 reticulophagy regulator family member 2 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1315689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12276735 RETREG2 reticulophagy regulator family member 2 gene DOID:1148 polydactyly ISO RGD:1315689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 12276735 RETREG2 reticulophagy regulator family member 2 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1315689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12276735 RETREG2 reticulophagy regulator family member 2 gene DOID:630 genetic disease ISO RGD:1315689 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276735 RETREG2 reticulophagy regulator family member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12276748 DUSP10 dual specificity phosphatase 10 gene DOID:0050439 Usher syndrome ISO RGD:1321979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 12276748 DUSP10 dual specificity phosphatase 10 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1321979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12276748 DUSP10 dual specificity phosphatase 10 gene DOID:1540 parathyroid carcinoma ISO RGD:1321979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12276748 DUSP10 dual specificity phosphatase 10 gene DOID:4989 pancreatitis ISO RGD:1310844 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:11027531|REF_RGD_ID:2301725 12276748 DUSP10 dual specificity phosphatase 10 gene DOID:630 genetic disease ISO RGD:1321979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276748 DUSP10 dual specificity phosphatase 10 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1321980 D RGD:9068941 20200609 RGD PMID:15306813|REF_RGD_ID:7775013 12276748 DUSP10 dual specificity phosphatase 10 gene DOID:9005372 Inflammation ISO RGD:1321979 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17151092 12276748 DUSP10 dual specificity phosphatase 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12276756 SLCO6A1 solute carrier organic anion transporter family member 6A1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353358 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12276756 SLCO6A1 solute carrier organic anion transporter family member 6A1 gene DOID:630 genetic disease ISO RGD:1353358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276756 SLCO6A1 solute carrier organic anion transporter family member 6A1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12276756 SLCO6A1 solute carrier organic anion transporter family member 6A1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353358 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12276779 PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 gene DOID:0080600 COVID-19 ISO RGD:1603703 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12276779 PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1603703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12276779 PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 gene DOID:1826 epilepsy ISO RGD:1603703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12276779 PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603703 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12276779 PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 gene DOID:1909 melanoma ISO RGD:1603703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12276779 PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 gene DOID:630 genetic disease ISO RGD:1603703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276779 PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1603703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12276798 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:0060041 autism spectrum disorder ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12276798 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1343811 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12276798 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1343811 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12276798 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:10283 prostate cancer ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12276798 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:1059 intellectual disability ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12276798 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:11198 DiGeorge syndrome ISO RGD:1343811 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12276798 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:11372 megacolon ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12276798 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:12583 velocardiofacial syndrome ISO RGD:1343811 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12276798 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:12849 autistic disorder ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12276798 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:1826 epilepsy ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12276798 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:2213 hemorrhagic disease ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 12276798 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:5419 schizophrenia ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12276798 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:612 primary immunodeficiency disease ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12276798 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:630 genetic disease ISO RGD:1343811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276798 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:9003871 Venous Thrombosis ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 12276798 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12276798 DGCR6L DiGeorge syndrome critical region gene 6 like gene DOID:9007661 Dwarfism ISO RGD:1343811 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12276819 RASAL3 RAS protein activator like 3 gene DOID:630 genetic disease ISO RGD:2302537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276819 RASAL3 RAS protein activator like 3 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:2302537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia 12276841 SH3GL2 SH3 domain containing GRB2 like 2, endophilin A1 gene DOID:11832 visual epilepsy ISO RGD:620276 D RGD:9068941 20200609 RGD PMID:14751282|REF_RGD_ID:13464355 12276841 SH3GL2 SH3 domain containing GRB2 like 2, endophilin A1 gene DOID:630 genetic disease ISO RGD:1343139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276854 MRAP2 melanocortin 2 receptor accessory protein 2 gene DOID:630 genetic disease ISO RGD:1320449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12276854 MRAP2 melanocortin 2 receptor accessory protein 2 gene DOID:9970 obesity ISO RGD:1320449 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Body mass index quantitative trait locus 18 PMID:23869016|PMID:25741868|PMID:28492532 12276854 MRAP2 melanocortin 2 receptor accessory protein 2 gene DOID:9970 obesity susceptibility ISO RGD:1320449 D RGD:7240710 20190502 OMIM 12276868 CAPNS1 calpain small subunit 1 gene DOID:0080600 COVID-19 ISO RGD:735486 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12276868 CAPNS1 calpain small subunit 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:735486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12276868 CAPNS1 calpain small subunit 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:735486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12276868 CAPNS1 calpain small subunit 1 gene DOID:630 genetic disease ISO RGD:735486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276868 CAPNS1 calpain small subunit 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12276886 MYDGF myeloid derived growth factor gene DOID:0080600 COVID-19 ISO RGD:1345552 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12276886 MYDGF myeloid derived growth factor gene DOID:630 genetic disease ISO RGD:1345552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276886 MYDGF myeloid derived growth factor gene DOID:9000058 Keloid ISO RGD:1345552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12276896 PHACTR3 phosphatase and actin regulator 3 gene DOID:630 genetic disease ISO RGD:1605886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276918 EMC1 ER membrane protein complex subunit 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1602125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12276918 EMC1 ER membrane protein complex subunit 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602125 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12276918 EMC1 ER membrane protein complex subunit 1 gene DOID:0080205 CAKUT ISO RGD:1602125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:26572623|PMID:26942288|PMID:27657687|PMID:28492532|PMID:29271071 12276918 EMC1 ER membrane protein complex subunit 1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1602125 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12276918 EMC1 ER membrane protein complex subunit 1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1602125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12276918 EMC1 ER membrane protein complex subunit 1 gene DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation ISO RGD:1602125 D RGD:7240710 20190315 OMIM 12276918 EMC1 ER membrane protein complex subunit 1 gene DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation ISO RGD:1602125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar atrophy, visual impairment, and psychomotor retardation | ClinVar Annotator: match by term: EMC1-Related Disorder PMID:16199547|PMID:25741868|PMID:26572623|PMID:26942288|PMID:27657687|PMID:28492532|PMID:29271071|PMID:30577886|PMID:31904590|PMID:32092440|PMID:33236988|PMID:34426522 12276918 EMC1 ER membrane protein complex subunit 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1602125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:23105016|PMID:28492532 12276918 EMC1 ER membrane protein complex subunit 1 gene DOID:10907 microcephaly ISO RGD:1602125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12276918 EMC1 ER membrane protein complex subunit 1 gene DOID:630 genetic disease ISO RGD:1602125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26942288|PMID:28492532|PMID:30577886|PMID:31904590|PMID:33236988|PMID:34426522|PMID:9536098 12276918 EMC1 ER membrane protein complex subunit 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1602125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12276918 EMC1 ER membrane protein complex subunit 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1602125 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:26572623|PMID:26942288|PMID:28492532|PMID:29271071|PMID:32092440 12276918 EMC1 ER membrane protein complex subunit 1 gene DOID:9970 obesity ISO RGD:1602125 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Obesity PMID:26572623|PMID:26942288|PMID:28492532|PMID:29271071 12276963 MANSC4 MANSC domain containing 4 gene DOID:630 genetic disease ISO RGD:5132067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276983 GJA9 gap junction protein alpha 9 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1353099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12276983 GJA9 gap junction protein alpha 9 gene DOID:630 genetic disease ISO RGD:1353099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12276988 THSD7B thrombospondin type 1 domain containing 7B gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1606777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 12276988 THSD7B thrombospondin type 1 domain containing 7B gene DOID:630 genetic disease ISO RGD:1606777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277019 LUZP1 leucine zipper protein 1 gene DOID:630 genetic disease ISO RGD:736317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277019 LUZP1 leucine zipper protein 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:736317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12277035 TAC4 tachykinin precursor 4 gene DOID:630 genetic disease ISO RGD:735700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277045 PPP1R7 protein phosphatase 1 regulatory subunit 7 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1317789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12277045 PPP1R7 protein phosphatase 1 regulatory subunit 7 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1317789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12277045 PPP1R7 protein phosphatase 1 regulatory subunit 7 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1317789 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12277045 PPP1R7 protein phosphatase 1 regulatory subunit 7 gene DOID:1059 intellectual disability ISO RGD:1317789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12277045 PPP1R7 protein phosphatase 1 regulatory subunit 7 gene DOID:630 genetic disease ISO RGD:1317789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277045 PPP1R7 protein phosphatase 1 regulatory subunit 7 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1317789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12277063 VEZF1 vascular endothelial zinc finger 1 gene DOID:0050777 Joubert syndrome ISO RGD:1317608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12277063 VEZF1 vascular endothelial zinc finger 1 gene DOID:1059 intellectual disability ISO RGD:1317608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12277063 VEZF1 vascular endothelial zinc finger 1 gene DOID:630 genetic disease ISO RGD:1317608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277063 VEZF1 vascular endothelial zinc finger 1 gene DOID:9006997 Dilated Cardiomyopathy 1OO ISO RGD:1317608 D RGD:7240710 20230505 OMIM 12277063 VEZF1 vascular endothelial zinc finger 1 gene DOID:9006997 Dilated Cardiomyopathy 1OO ISO RGD:1317608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1OO PMID:36657711 12277088 GSX1 GS homeobox 1 gene DOID:630 genetic disease ISO RGD:1320681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277118 LOC102152446 coronin-7 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1351326 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12277118 LOC102152446 coronin-7 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1351326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 12277118 LOC102152446 coronin-7 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1351326 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 12277118 LOC102152446 coronin-7 gene DOID:1682 congenital heart disease ISO RGD:1351326 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 12277118 LOC102152446 coronin-7 gene DOID:1826 epilepsy ISO RGD:1351326 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12277118 LOC102152446 coronin-7 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1351326 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12277118 LOC102152446 coronin-7 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1351326 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12277118 LOC102152446 coronin-7 gene DOID:630 genetic disease ISO RGD:1351326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277118 LOC102152446 coronin-7 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1351326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia 12277165 CYS1 cystin 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1606435 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:25741868|PMID:34521872 12277165 CYS1 cystin 1 gene DOID:10534 stomach cancer severity ISO RGD:1606435 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 12277165 CYS1 cystin 1 gene DOID:630 genetic disease ISO RGD:1606435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277176 NACAD NAC alpha domain containing gene DOID:0060670 cerebral cavernous malformation 2 ISO RGD:1625090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 2 PMID:17160895|PMID:28492532 12277176 NACAD NAC alpha domain containing gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1625090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12277176 NACAD NAC alpha domain containing gene DOID:630 genetic disease ISO RGD:1625090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277207 SAG S-antigen visual arrestin gene DOID:0050534 congenital stationary night blindness ISO RGD:736449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7670478 12277207 SAG S-antigen visual arrestin gene DOID:0050795 cone dystrophy ISO RGD:736449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12277207 SAG S-antigen visual arrestin gene DOID:0060476 Perlman syndrome ISO RGD:736449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12277207 SAG S-antigen visual arrestin gene DOID:0110369 retinitis pigmentosa 47 ISO RGD:736449 D RGD:7240710 20180130 OMIM 12277207 SAG S-antigen visual arrestin gene DOID:0110369 retinitis pigmentosa 47 ISO RGD:736449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 47 PMID:15234147|PMID:15295660|PMID:17200654|PMID:17576681|PMID:18175313|PMID:21151602|PMID:21447990|PMID:21922265|PMID:21987685|PMID:22419846|PMID:22665972|PMID:23591405|PMID:25268133|PMID:25741868|PMID:28492532|PMID:33047631|PMID:7670478|PMID:9452120|PMID:9501883|PMID:9536098|PMID:9565049 12277207 SAG S-antigen visual arrestin gene DOID:0110712 Oguchi disease-1 ISO RGD:736449 D RGD:7240710 20190306 OMIM 12277207 SAG S-antigen visual arrestin gene DOID:0110712 Oguchi disease-1 ISO RGD:736449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oguchi disease-1 PMID:15234147|PMID:21151602|PMID:22419846|PMID:22581970|PMID:22665972|PMID:25741868|PMID:28492532|PMID:33047631|PMID:9452120 12277207 SAG S-antigen visual arrestin gene DOID:0110713 Oguchi disease-2 ISO RGD:736449 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Oguchi disease-2 PMID:15234147|PMID:21151602|PMID:22419846|PMID:22665972|PMID:25741868|PMID:28492532|PMID:33047631|PMID:9452120 12277207 SAG S-antigen visual arrestin gene DOID:0110991 Joubert syndrome 22 ISO RGD:736449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12277207 SAG S-antigen visual arrestin gene DOID:10584 retinitis pigmentosa ISO RGD:736449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15234147|PMID:16199547|PMID:18175313|PMID:20981092|PMID:22665972|PMID:22995991|PMID:24265693|PMID:25741868|PMID:28492532|PMID:30718709|PMID:9452120|PMID:9501883 12277207 SAG S-antigen visual arrestin gene DOID:10584 retinitis pigmentosa ISO RGD:736449 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15234147|PMID:16199547|PMID:17576681|PMID:18175313|PMID:20981092|PMID:22665972|PMID:22995991|PMID:24265693|PMID:25741868|PMID:28492532|PMID:30718709|PMID:9452120|PMID:9501883|PMID:9536098 12277207 SAG S-antigen visual arrestin gene DOID:13141 uveitis ISO RGD:736449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8407215 12277207 SAG S-antigen visual arrestin gene DOID:630 genetic disease ISO RGD:736449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12277207 SAG S-antigen visual arrestin gene DOID:8498 hereditary night blindness IAGP D RGD:12801476 20210603 OMIA Progressive retinal atrophy, Basenji PMID:16859891|PMID:24019744 12277207 SAG S-antigen visual arrestin gene DOID:8498 hereditary night blindness ISO RGD:736449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oguchi disease | ClinVar Annotator: match by term: Stationary night blindness, Oguchi type PMID:15234147|PMID:15295660|PMID:17200654|PMID:17576681|PMID:18175313|PMID:20981092|PMID:21151602|PMID:21447990|PMID:21922265|PMID:21987685|PMID:22419846|PMID:22581970|PMID:22665972|PMID:22995991|PMID:24265693|PMID:25268133|PMID:25741868|PMID:28492532|PMID:30267901|PMID:33047631|PMID:7670478|PMID:9452120|PMID:9501883|PMID:9536098|PMID:9565049 12277207 SAG S-antigen visual arrestin gene DOID:8501 fundus dystrophy ISO RGD:736449 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15234147|PMID:16199547|PMID:21151602|PMID:22419846|PMID:22665972|PMID:25741868|PMID:28492532|PMID:28549094|PMID:29305604|PMID:33047631|PMID:9452120 12277207 SAG S-antigen visual arrestin gene DOID:9002289 Retinitis Pigmentosa 96 ISO RGD:736449 D RGD:7240710 20230215 OMIM 12277230 CD101 CD101 molecule gene DOID:630 genetic disease ISO RGD:1322923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277246 USP4 ubiquitin specific peptidase 4 gene DOID:0060852 Pierson syndrome ISO RGD:1344173 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 12277246 USP4 ubiquitin specific peptidase 4 gene DOID:630 genetic disease ISO RGD:1344173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277246 USP4 ubiquitin specific peptidase 4 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1344173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12277279 DHX29 DExH-box helicase 29 gene DOID:10283 prostate cancer ISO RGD:1318664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12277279 DHX29 DExH-box helicase 29 gene DOID:630 genetic disease ISO RGD:1318664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277279 DHX29 DExH-box helicase 29 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12277312 SLC6A18 solute carrier family 6 member 18 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1346320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 12277312 SLC6A18 solute carrier family 6 member 18 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1346320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 12277312 SLC6A18 solute carrier family 6 member 18 gene DOID:10763 hypertension ISO RGD:1346320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15121838 12277312 SLC6A18 solute carrier family 6 member 18 gene DOID:630 genetic disease ISO RGD:1346320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277312 SLC6A18 solute carrier family 6 member 18 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1346320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 12277328 ATP5J2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:5013862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12277328 ATP5J2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 gene DOID:630 genetic disease ISO RGD:5013862 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277328 ATP5J2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:5013862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:20818383|PMID:25741868 12277362 HENMT1 HEN methyltransferase 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1602307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12277362 HENMT1 HEN methyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1602307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12277362 HENMT1 HEN methyltransferase 1 gene DOID:14227 azoospermia ISO RGD:1602307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 12277362 HENMT1 HEN methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1602307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277363 SHCBP1L SHC binding and spindle associated 1 like gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1313739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12277363 SHCBP1L SHC binding and spindle associated 1 like gene DOID:10283 prostate cancer ISO RGD:1313739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12277363 SHCBP1L SHC binding and spindle associated 1 like gene DOID:1540 parathyroid carcinoma ISO RGD:1313739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12277363 SHCBP1L SHC binding and spindle associated 1 like gene DOID:630 genetic disease ISO RGD:1313739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277363 SHCBP1L SHC binding and spindle associated 1 like gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1313739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12277363 SHCBP1L SHC binding and spindle associated 1 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12277376 ARHGAP33 Rho GTPase activating protein 33 gene DOID:0060041 autism spectrum disorder ISO RGD:1318752 D RGD:9068941 20210430 RGD PMID:25869807|REF_RGD_ID:126848764 12277376 ARHGAP33 Rho GTPase activating protein 33 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1318751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12277376 ARHGAP33 Rho GTPase activating protein 33 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1318751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12277376 ARHGAP33 Rho GTPase activating protein 33 gene DOID:150 disease of mental health ISO RGD:1318752 D RGD:9068941 20210430 RGD PMID:26839058|REF_RGD_ID:11343316 12277376 ARHGAP33 Rho GTPase activating protein 33 gene DOID:3328 temporal lobe epilepsy ISO RGD:1318752 D RGD:9068941 20210430 RGD protein:increased phosphorylation:hippocampus PMID:30996354|REF_RGD_ID:126848765 12277376 ARHGAP33 Rho GTPase activating protein 33 gene DOID:630 genetic disease ISO RGD:1318751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277402 CRH corticotropin releasing hormone gene DOID:0050562 West syndrome ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11341487 12277402 CRH corticotropin releasing hormone gene DOID:0060001 withdrawal disorder ISO RGD:620505 D RGD:9068941 20200609 RGD mRNA:increased expression:amygdala (rat) PMID:12782395|REF_RGD_ID:5508177 12277402 CRH corticotropin releasing hormone gene DOID:0060001 withdrawal disorder ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12968131|PMID:18596687 12277402 CRH corticotropin releasing hormone gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:730946 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:23086396|PMID:23593457|PMID:24395520 12277402 CRH corticotropin releasing hormone gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:730946 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:23086396|PMID:23593457|PMID:24395520 12277402 CRH corticotropin releasing hormone gene DOID:10652 Alzheimer's disease ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7477348 12277402 CRH corticotropin releasing hormone gene DOID:10652 Alzheimer's disease ISO RGD:730946 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (human) PMID:7477348|REF_RGD_ID:5508831 12277402 CRH corticotropin releasing hormone gene DOID:1129 pituitary apoplexy ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12699433|PMID:12699434 12277402 CRH corticotropin releasing hormone gene DOID:11446 sciatic neuropathy ISO RGD:620505 D RGD:9068941 20200609 RGD mRNA:increased expression:central nucleus of amygdala, bed nucleus of stria terminalis (rat) PMID:21684787|REF_RGD_ID:5490542 12277402 CRH corticotropin releasing hormone gene DOID:13375 temporal arteritis no_association ISO RGD:730946 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:12051390|REF_RGD_ID:1581301 12277402 CRH corticotropin releasing hormone gene DOID:13619 extrahepatic cholestasis ISO RGD:620505 D RGD:9068941 20200609 RGD protein:decreased expression:hypothalamus (rat) PMID:8387536|REF_RGD_ID:5490980 12277402 CRH corticotropin releasing hormone gene DOID:14330 Parkinson's disease ISO RGD:730946 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (human) PMID:3502064|REF_RGD_ID:5508835 12277402 CRH corticotropin releasing hormone gene DOID:1561 cognitive disorder ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16039799 12277402 CRH corticotropin releasing hormone gene DOID:1574 alcohol use disorder ISO RGD:620505 D RGD:9068941 20200609 RGD mRNA:increased expression:central amygdaloid nucleus (rat) PMID:20060104|REF_RGD_ID:5508173 12277402 CRH corticotropin releasing hormone gene DOID:1596 depressive disorder ISO RGD:620505 D RGD:9068941 20200609 RGD mRNA:increased expression:paraventricular nucleus, dorsal raphe nucleus (rat) PMID:20860876|REF_RGD_ID:5147490 12277402 CRH corticotropin releasing hormone gene DOID:1596 depressive disorder ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12438692|PMID:18698320 12277402 CRH corticotropin releasing hormone gene DOID:1824 status epilepticus ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7756609 12277402 CRH corticotropin releasing hormone gene DOID:2030 anxiety disorder ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11440811|PMID:11875628|PMID:12424556|PMID:12438692|PMID:14575894|PMID:16495007|PMID:17293045|PMID:21268831|PMID:22231481|PMID:7816204|PMID:8736133 12277402 CRH corticotropin releasing hormone gene DOID:2303 stereotypic movement disorder ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1914160 12277402 CRH corticotropin releasing hormone gene DOID:2316 brain ischemia ISO RGD:620505 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex (rat) PMID:8541482|REF_RGD_ID:1581300 12277402 CRH corticotropin releasing hormone gene DOID:3328 temporal lobe epilepsy ISO RGD:620505 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus (rat) PMID:9037416|REF_RGD_ID:5508845 12277402 CRH corticotropin releasing hormone gene DOID:3525 middle cerebral artery infarction ISO RGD:620505 D RGD:9068941 20200609 RGD protein:decreased expression:median eminence of hypothalamus (rat) PMID:21741032|REF_RGD_ID:5490538 12277402 CRH corticotropin releasing hormone gene DOID:3612 retinitis ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11384150 12277402 CRH corticotropin releasing hormone gene DOID:446 primary hyperaldosteronism ISO RGD:730947 D RGD:9068941 20220825 MouseDO OMIM:605635 | OMIM:613677 12277402 CRH corticotropin releasing hormone gene DOID:480 movement disease ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21618986 12277402 CRH corticotropin releasing hormone gene DOID:594 panic disorder ISO RGD:730946 D RGD:9068941 20200609 RGD PMID:14675801|REF_RGD_ID:1358525 12277402 CRH corticotropin releasing hormone gene DOID:630 genetic disease ISO RGD:730946 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22984453|PMID:23086396|PMID:23593457|PMID:24395520|PMID:26467025|PMID:28492532 12277402 CRH corticotropin releasing hormone gene DOID:853 polymyalgia rheumatica no_association ISO RGD:730946 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:12051390|REF_RGD_ID:1581301 12277402 CRH corticotropin releasing hormone gene DOID:9000039 Spinal Cord Injuries ISO RGD:620505 D RGD:9068941 20200609 RGD protein:altered expression:spinal cord (rat) PMID:20458328|REF_RGD_ID:5490964 12277402 CRH corticotropin releasing hormone gene DOID:9000641 Pain ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16495007 12277402 CRH corticotropin releasing hormone gene DOID:9000972 Fever ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11852909 12277402 CRH corticotropin releasing hormone gene DOID:9001109 Anorexia ISO RGD:620505 D RGD:9068941 20200609 RGD PMID:12429558|REF_RGD_ID:704394 12277402 CRH corticotropin releasing hormone gene DOID:9001109 Anorexia ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16420149 12277402 CRH corticotropin releasing hormone gene DOID:9001204 Dyspepsia ISO RGD:620505 D RGD:9068941 20200609 RGD protein:increased expression:central nucleus of amygdala, paraventricular hypothalamic nucleus (rat) PMID:21589865|REF_RGD_ID:5490556 12277402 CRH corticotropin releasing hormone gene DOID:9001239 Delayed Puberty ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20002962 12277402 CRH corticotropin releasing hormone gene DOID:9001981 Weight Loss ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8986836 12277402 CRH corticotropin releasing hormone gene DOID:9003674 Chest Pain ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2563132 12277402 CRH corticotropin releasing hormone gene DOID:9004484 Sepsis ISO RGD:620505 D RGD:9068941 20200609 RGD protein:increased expression:hypothalamus (rat) PMID:21549066|REF_RGD_ID:5490558 12277402 CRH corticotropin releasing hormone gene DOID:9005158 Cushing Syndrome ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21359208 12277402 CRH corticotropin releasing hormone gene DOID:9005632 Cocaine-Related Disorders ISO RGD:620505 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus (rat) PMID:12782395|REF_RGD_ID:5508177 12277402 CRH corticotropin releasing hormone gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10516337|PMID:11797056|PMID:18596687|PMID:19349312|PMID:7796157 12277402 CRH corticotropin releasing hormone gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620505 D RGD:9068941 20200609 RGD mRNA:increased expression:paraventricular hypothalamic nucleus (rat) PMID:9652969|REF_RGD_ID:5508166 12277402 CRH corticotropin releasing hormone gene DOID:9006024 Hypotension ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1320258|PMID:6093200 12277402 CRH corticotropin releasing hormone gene DOID:9007001 Bradycardia ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6093200 12277402 CRH corticotropin releasing hormone gene DOID:9007877 Fetal Hypoxia ISO RGD:620505 D RGD:9068941 20200609 RGD protein:increased expression:paraventricular nucleus of hypothalamus (rat) PMID:19409200|REF_RGD_ID:5491006 12277402 CRH corticotropin releasing hormone gene DOID:9008514 Psychomotor Disorders ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1335535 12277402 CRH corticotropin releasing hormone gene DOID:987 alopecia ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21359208 12277402 CRH corticotropin releasing hormone gene DOID:9970 obesity ISO RGD:620505 D RGD:9068941 20200609 RGD PMID:11564446|REF_RGD_ID:5508830 12277402 CRH corticotropin releasing hormone gene DOID:9970 obesity ISO RGD:730946 D RGD:9068941 20200609 RGD PMID:11564446|REF_RGD_ID:5508830 12277402 CRH corticotropin releasing hormone gene DOID:9993 hypoglycemia ISO RGD:620505 D RGD:9068941 20200609 RGD PMID:12606499|REF_RGD_ID:704397 12277418 SLC12A7 solute carrier family 12 member 7 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1348814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 12277418 SLC12A7 solute carrier family 12 member 7 gene DOID:0060041 autism spectrum disorder ISO RGD:1348814 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12277418 SLC12A7 solute carrier family 12 member 7 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1348814 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 12277418 SLC12A7 solute carrier family 12 member 7 gene DOID:11054 urinary bladder cancer ISO RGD:1348814 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 12277418 SLC12A7 solute carrier family 12 member 7 gene DOID:630 genetic disease ISO RGD:1348814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277418 SLC12A7 solute carrier family 12 member 7 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1348814 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 12277454 DEF8 differentially expressed in FDCP 8 homolog gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1603215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12277454 DEF8 differentially expressed in FDCP 8 homolog gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1603215 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12277454 DEF8 differentially expressed in FDCP 8 homolog gene DOID:13636 Fanconi anemia ISO RGD:1603215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 12277454 DEF8 differentially expressed in FDCP 8 homolog gene DOID:630 genetic disease ISO RGD:1603215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277488 MFSD14A major facilitator superfamily domain containing 14A gene DOID:630 genetic disease ISO RGD:1313218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277488 MFSD14A major facilitator superfamily domain containing 14A gene DOID:9269 maple syrup urine disease ISO RGD:1313218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 12277504 MEP1B meprin A subunit beta gene DOID:1059 intellectual disability ISO RGD:737385 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12277504 MEP1B meprin A subunit beta gene DOID:630 genetic disease ISO RGD:737385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277521 OR3A1H olfactory receptor family 3 subfamily A member 1H gene DOID:630 genetic disease ISO RGD:1352676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277538 MAP3K2 mitogen-activated protein kinase kinase kinase 2 gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1354206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:28492532 12277538 MAP3K2 mitogen-activated protein kinase kinase kinase 2 gene DOID:0111220 centronuclear myopathy 2 ISO RGD:1354206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 12277538 MAP3K2 mitogen-activated protein kinase kinase kinase 2 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1354206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 12277538 MAP3K2 mitogen-activated protein kinase kinase kinase 2 gene DOID:630 genetic disease ISO RGD:1354206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277567 RAB11FIP5 RAB11 family interacting protein 5 gene DOID:0050473 Alstrom syndrome ISO RGD:1346029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 12277567 RAB11FIP5 RAB11 family interacting protein 5 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1346029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12277567 RAB11FIP5 RAB11 family interacting protein 5 gene DOID:0080600 COVID-19 ISO RGD:1346029 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12277567 RAB11FIP5 RAB11 family interacting protein 5 gene DOID:12849 autistic disorder ISO RGD:1346029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18384058 12277567 RAB11FIP5 RAB11 family interacting protein 5 gene DOID:543 dystonia ISO RGD:1346029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12277567 RAB11FIP5 RAB11 family interacting protein 5 gene DOID:630 genetic disease ISO RGD:1346029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277567 RAB11FIP5 RAB11 family interacting protein 5 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1346029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12277643 NPC2 NPC intracellular cholesterol transporter 2 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1353089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:11125141|PMID:11333381|PMID:11567215|PMID:12955717|PMID:15465422|PMID:15937921|PMID:16126423|PMID:16757520|PMID:17470133|PMID:18772377|PMID:19252935|PMID:20301473|PMID:21084287|PMID:22073306|PMID:23352160|PMID:23433426|PMID:23773996|PMID:23791309|PMID:24386122|PMID:24767253|PMID:25038260|PMID:25145893|PMID:25236789|PMID:25741868|PMID:25764212|PMID:25772320|PMID:26666848|PMID:26981555|PMID:27792009|PMID:28095804|PMID:28492532|PMID:28808920|PMID:29928259|PMID:30548430|PMID:32138288 12277643 NPC2 NPC intracellular cholesterol transporter 2 gene DOID:0070114 Niemann-Pick disease type C2 ISO RGD:1353089 D RGD:7240710 20180130 OMIM 12277643 NPC2 NPC intracellular cholesterol transporter 2 gene DOID:0070114 Niemann-Pick disease type C2 ISO RGD:1353089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C2 PMID:11125141|PMID:11333381|PMID:11567215|PMID:12447927|PMID:12955717|PMID:15465422|PMID:15937921|PMID:16126423|PMID:16167124|PMID:16757520|PMID:17470133|PMID:17576681|PMID:18081003|PMID:18772377|PMID:19252935|PMID:20301473|PMID:21084287|PMID:22073306|PMID:22676771|PMID:23352160|PMID:23433426|PMID:23773996|PMID:23791309|PMID:24082139|PMID:24386122|PMID:24767253|PMID:24915861|PMID:25038260|PMID:25145893|PMID:25236789|PMID:25326635|PMID:25558065|PMID:25741868|PMID:25764212|PMID:25772320|PMID:26206375|PMID:26338816|PMID:26666848|PMID:26981555|PMID:27271431|PMID:27792009|PMID:28095804|PMID:28105569|PMID:28492532|PMID:28808920|PMID:29928259|PMID:30548430|PMID:32138288|PMID:9536098 12277643 NPC2 NPC intracellular cholesterol transporter 2 gene DOID:1059 intellectual disability ISO RGD:1353089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12277643 NPC2 NPC intracellular cholesterol transporter 2 gene DOID:14504 Niemann-Pick disease ISO RGD:1353089 D RGD:9068941 20200609 RGD DNA:mutation:multiple PMID:11567215|REF_RGD_ID:1601483 12277643 NPC2 NPC intracellular cholesterol transporter 2 gene DOID:14504 Niemann-Pick disease ISO RGD:1553506 D RGD:9068941 20220825 MouseDO 12277643 NPC2 NPC intracellular cholesterol transporter 2 gene DOID:630 genetic disease ISO RGD:1353089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15937921|PMID:20301473|PMID:24386122|PMID:25145893|PMID:25741868|PMID:26338816|PMID:28095804|PMID:28492532 12277643 NPC2 NPC intracellular cholesterol transporter 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1353089 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:12955717|PMID:15937921|PMID:25558065|PMID:25741868|PMID:25764212|PMID:28492532 12277651 RXFP2 relaxin family peptide receptor 2 gene DOID:11383 cryptorchidism ISO RGD:1319797 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bilateral cryptorchidism | ClinVar Annotator: match by term: Cryptorchidism PMID:12217959|PMID:12970298|PMID:20636340|PMID:25741868 12277651 RXFP2 relaxin family peptide receptor 2 gene DOID:1923 disorder of sexual development ISO RGD:1319797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 12277651 RXFP2 relaxin family peptide receptor 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319797 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 12277651 RXFP2 relaxin family peptide receptor 2 gene DOID:630 genetic disease ISO RGD:1319797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277671 EFHC1 EF-hand domain containing 1 gene DOID:0070309 absence epilepsy ISO RGD:1317534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Absence epilepsy | ClinVar Annotator: match by term: Absence seizure PMID:12439895|PMID:15258581|PMID:16839746|PMID:17159113|PMID:17634063|PMID:18414213|PMID:18823326|PMID:22226147|PMID:22690745|PMID:22926142|PMID:23527921|PMID:24965021|PMID:25489633|PMID:25625532|PMID:25741868|PMID:26467025|PMID:27467453|PMID:28166811|PMID:28370826|PMID:28492532|PMID:31875159 12277671 EFHC1 EF-hand domain containing 1 gene DOID:0111321 idiopathic generalized epilepsy 7 ISO RGD:1317534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EIG7 PMID:25741868|PMID:28166811|PMID:28492532 12277671 EFHC1 EF-hand domain containing 1 gene DOID:0111324 juvenile absence epilepsy 1 ISO RGD:1317534 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Epilepsy, juvenile absence, susceptibility to, 1 PMID:25741868|PMID:28492532 12277671 EFHC1 EF-hand domain containing 1 gene DOID:0111324 juvenile absence epilepsy 1 susceptibility ISO RGD:1317534 D RGD:7240710 20190904 OMIM 12277671 EFHC1 EF-hand domain containing 1 gene DOID:1825 childhood absence epilepsy ISO RGD:1317534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12277671 EFHC1 EF-hand domain containing 1 gene DOID:1826 epilepsy ISO RGD:1317534 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:28492532 12277671 EFHC1 EF-hand domain containing 1 gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:1317534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EJM1 | ClinVar Annotator: match by term: Janz syndrome | ClinVar Annotator: match by term: Juvenile myoclonic epilepsy | ClinVar Annotator: match by term: Myoclonic Epilepsy, Juvenile, 1 PMID:12439895|PMID:15258581|PMID:16199547|PMID:16839746|PMID:17054699|PMID:17159113|PMID:17576681|PMID:17634063|PMID:18414213|PMID:18505993|PMID:18823326|PMID:20981092|PMID:22226147|PMID:22690745|PMID:22727576|PMID:22926142|PMID:23527921|PMID:24033266|PMID:24965021|PMID:25108116|PMID:25326635|PMID:25489633|PMID:25625532|PMID:25741868|PMID:26467025|PMID:27467453|PMID:28166811|PMID:28370826|PMID:28492532|PMID:29750216|PMID:31875159|PMID:8737649|PMID:9536098 12277671 EFHC1 EF-hand domain containing 1 gene DOID:4890 juvenile myoclonic epilepsy susceptibility ISO RGD:1317534 D RGD:7240710 20190502 OMIM 12277671 EFHC1 EF-hand domain containing 1 gene DOID:630 genetic disease ISO RGD:1317534 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 12277687 USP46 ubiquitin specific peptidase 46 gene DOID:630 genetic disease ISO RGD:1344409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277701 ATXN7L1 ataxin 7 like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12277701 ATXN7L1 ataxin 7 like 1 gene DOID:630 genetic disease ISO RGD:1345348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277749 WASHC2C WASH complex subunit 2C gene DOID:630 genetic disease ISO RGD:1349964 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277784 CLDND1 claudin domain containing 1 gene DOID:630 genetic disease ISO RGD:1349033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277808 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:1317450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mental retardation, unusual facies, and intrauterine growth retardation | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome PMID:11252005|PMID:25741868|PMID:28492532|PMID:29760529|PMID:29892088|PMID:30345613 12277808 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:0060058 lymphoma ISO RGD:1317450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoma PMID:25741868 12277808 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:10907 microcephaly ISO RGD:1317450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12277808 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:11514 fissured tongue ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Plicated tongue PMID:25741868 12277808 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:11836 clubfoot ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY PMID:25741868 12277808 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868 12277808 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:1588 thrombocytopenia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868 12277808 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:1657 ventricular septal defect ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:25741868 12277808 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:1856 cherubism ISO RGD:1317450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12277808 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:2355 anemia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868 12277808 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317450 D RGD:9068941 20221117 RGD mRNA:increased expression:lung (human) PMID:34551195|REF_RGD_ID:155663369 12277808 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1319911 D RGD:9068941 20230218 RGD PMID:34551195|REF_RGD_ID:155663369 12277808 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:630 genetic disease ISO RGD:1317450 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25188243|PMID:28492532 12277808 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:9001031 Retrognathia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: retrognathism PMID:25741868 12277808 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:9001308 Wittwer Syndrome ISO RGD:1317450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wittwer syndrome PMID:11252005|PMID:25741868|PMID:28492532|PMID:29760529|PMID:29892088|PMID:30345613 12277808 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intracranial Hemorrhages PMID:25741868 12277808 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:9004360 RAUCH-STEINDL SYNDROME ISO RGD:1317450 D RGD:7240710 20220330 OMIM 12277808 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:9004360 RAUCH-STEINDL SYNDROME ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rauch-Steindl syndrome PMID:25741868|PMID:28492532|PMID:29760529|PMID:29892088|PMID:31382906|PMID:33276791|PMID:33941880 12277808 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317450 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33941880 12277808 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:9005078 Congenital Macroglossia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Giant tongue PMID:25741868 12277808 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:9005369 Hepatomegaly ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatomegaly PMID:25741868 12277808 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1317450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24076604 12277808 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:9007817 Macroglossia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Macroglossia PMID:25741868 12277808 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1317450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24874954 12277808 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1317450 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24076604 12277808 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:9993 hypoglycemia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:25741868 12277833 LAMP2 lysosomal associated membrane protein 2 gene DOID:0050437 Danon disease ISO RGD:735952 D RGD:7240710 20180130 OMIM 12277833 LAMP2 lysosomal associated membrane protein 2 gene DOID:0050437 Danon disease ISO RGD:735952 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Danon disease | ClinVar Annotator: match by term: Glycogen Storage Disease Type IIb | ClinVar Annotator: match by term: Glycogen storage cardiomyopathy PMID:10972294|PMID:12112061|PMID:14598234|PMID:15253947|PMID:15673802|PMID:15792868|PMID:15889279|PMID:15907287|PMID:16144992|PMID:16190986|PMID:16199547|PMID:16217705|PMID:16565504|PMID:17576681|PMID:17899313|PMID:18061453|PMID:18282207|PMID:18312451|PMID:18555174|PMID:18990578|PMID:19318653|PMID:19373884|PMID:19533775|PMID:20173215|PMID:20445193|PMID:20960602|PMID:21070164|PMID:21415759|PMID:21520333|PMID:21896538|PMID:22074992|PMID:22695892|PMID:23168931|PMID:23785128|PMID:23955649|PMID:24033266|PMID:24503780|PMID:24691104|PMID:25091525|PMID:25326635|PMID:25458169|PMID:25525159|PMID:25611685|PMID:25640679|PMID:25741868|PMID:25826782|PMID:26748608|PMID:27179547|PMID:27460667|PMID:27532257|PMID:27600940|PMID:27678261|PMID:27816333|PMID:28255936|PMID:28491796|PMID:28492532|PMID:28771489|PMID:28822614|PMID:28874292|PMID:29753918|PMID:29875424|PMID:29915097|PMID:29961767|PMID:30019023|PMID:30108015|PMID:30847666|PMID:3087571|PMID:30984009|PMID:31464081|PMID:31638414|PMID:31729179|PMID:33495597|PMID:34906502|PMID:6408499|PMID:6450334|PMID:8504498|PMID:9536098 12277833 LAMP2 lysosomal associated membrane protein 2 gene DOID:0050700 cardiomyopathy ISO RGD:735952 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:19533775|PMID:23785128|PMID:24033266|PMID:24503780|PMID:25091525|PMID:25741868|PMID:26748608|PMID:27600940|PMID:28492532|PMID:28771489|PMID:30984009|PMID:31464081|PMID:33495597 12277833 LAMP2 lysosomal associated membrane protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12277833 LAMP2 lysosomal associated membrane protein 2 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:735952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 12277833 LAMP2 lysosomal associated membrane protein 2 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:735952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 12277833 LAMP2 lysosomal associated membrane protein 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:735952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:28492532 12277833 LAMP2 lysosomal associated membrane protein 2 gene DOID:0081292 traumatic brain injury ISO RGD:2990 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:28365875|REF_RGD_ID:13703062 12277833 LAMP2 lysosomal associated membrane protein 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:735952 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532 12277833 LAMP2 lysosomal associated membrane protein 2 gene DOID:1059 intellectual disability ISO RGD:735952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23785128|PMID:24033266|PMID:25091525|PMID:25741868|PMID:27600940|PMID:28492532|PMID:28771489 12277833 LAMP2 lysosomal associated membrane protein 2 gene DOID:11446 sciatic neuropathy treatment ISO RGD:2990 D RGD:9068941 20200609 RGD PMID:30015858|REF_RGD_ID:13703060 12277833 LAMP2 lysosomal associated membrane protein 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:15673802|PMID:16199547|PMID:16217705|PMID:17576681|PMID:18282207|PMID:18555174|PMID:19318653|PMID:19373884|PMID:19533775|PMID:21415759|PMID:24033266|PMID:24503780|PMID:25458169|PMID:25525159|PMID:25611685|PMID:25741868|PMID:26748608|PMID:27532257|PMID:28492532|PMID:29753918|PMID:9536098 12277833 LAMP2 lysosomal associated membrane protein 2 gene DOID:12849 autistic disorder ISO RGD:735952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12277833 LAMP2 lysosomal associated membrane protein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:735952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21415759|PMID:24033266|PMID:25741868|PMID:28492532 12277833 LAMP2 lysosomal associated membrane protein 2 gene DOID:13580 cholestasis ISO RGD:2990 D RGD:9068941 20200609 RGD in hemizygote mutant male (LAMP2y/-) PMID:28124283|REF_RGD_ID:13703118 12277833 LAMP2 lysosomal associated membrane protein 2 gene DOID:1561 cognitive disorder ISO RGD:2990 D RGD:9068941 20200609 RGD in hemizygote mutant male (LAMP2y/-) PMID:29720683|REF_RGD_ID:13703117 12277833 LAMP2 lysosomal associated membrane protein 2 gene DOID:1824 status epilepticus ISO RGD:735952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19272430 12277833 LAMP2 lysosomal associated membrane protein 2 gene DOID:2475 chronic conjunctivitis ISO RGD:2990 D RGD:9068941 20200609 RGD in hemizygote mutant male (LAMP2y/-) PMID:29720683|REF_RGD_ID:13703117 12277833 LAMP2 lysosomal associated membrane protein 2 gene DOID:5844 myocardial infarction ISO RGD:2990 D RGD:9068941 20200609 RGD mRNA:increased expression:plantaris PMID:24427319|REF_RGD_ID:11557988 12277833 LAMP2 lysosomal associated membrane protein 2 gene DOID:630 genetic disease ISO RGD:735952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12277833 LAMP2 lysosomal associated membrane protein 2 gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:10857 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:22850625|REF_RGD_ID:11560530 12277833 LAMP2 lysosomal associated membrane protein 2 gene DOID:9007905 Trifascicular Block ISO RGD:735952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trifascicular block on electrocardiogram PMID:28492532 12277854 EXOSC4 exosome component 4 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1322197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12277854 EXOSC4 exosome component 4 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1322197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12277854 EXOSC4 exosome component 4 gene DOID:4621 holoprosencephaly ISO RGD:1322197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12277854 EXOSC4 exosome component 4 gene DOID:630 genetic disease ISO RGD:1322197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277864 PTPRJ protein tyrosine phosphatase receptor type J gene DOID:1059 intellectual disability ISO RGD:736433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12277864 PTPRJ protein tyrosine phosphatase receptor type J gene DOID:10763 hypertension ISO RGD:3454 D RGD:9068941 20200609 RGD PMID:15710778|REF_RGD_ID:1357414 12277864 PTPRJ protein tyrosine phosphatase receptor type J gene DOID:1520 colon carcinoma ISO RGD:736433 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:12089527|PMID:25741868|PMID:33116287 12277864 PTPRJ protein tyrosine phosphatase receptor type J gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:736433 D RGD:9068941 20220512 RGD DNA:missense mutations:cds:p.R326Q, p.Q276P (human) PMID:19672627|REF_RGD_ID:152176665 12277864 PTPRJ protein tyrosine phosphatase receptor type J gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:736433 D RGD:9068941 20220512 RGD DNA:missense mutations:cds:p.R326Q, p.Q276P (human) PMID:19672627|REF_RGD_ID:152176665 12277864 PTPRJ protein tyrosine phosphatase receptor type J gene DOID:630 genetic disease ISO RGD:736433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277864 PTPRJ protein tyrosine phosphatase receptor type J gene DOID:9008443 Colorectal Neoplasms ISO RGD:736433 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 12277864 PTPRJ protein tyrosine phosphatase receptor type J gene DOID:9256 colorectal cancer ISO RGD:736433 D RGD:7240710 20200226 OMIM 12277864 PTPRJ protein tyrosine phosphatase receptor type J gene DOID:9256 colorectal cancer ISO RGD:736433 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:12089527|PMID:25741868|PMID:33116287 12277864 PTPRJ protein tyrosine phosphatase receptor type J gene DOID:9256 colorectal cancer susceptibility ISO RGD:736433 D RGD:9068941 20220512 RGD DNA:missense mutations:cds:p.R326Q, p.Q276P (human) PMID:19672627|REF_RGD_ID:152176665 12277892 KIF27 kinesin family member 27 gene DOID:10908 hydrocephalus ISO RGD:1553484 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 12277892 KIF27 kinesin family member 27 gene DOID:630 genetic disease ISO RGD:1344489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277918 FGD3 FYVE, RhoGEF and PH domain containing 3 gene DOID:630 genetic disease ISO RGD:1323332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277940 STK11 serine/threonine kinase 11 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1318548 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli PMID:25186627|PMID:25741868|PMID:26010451|PMID:26467025|PMID:26898890|PMID:28135145|PMID:28492532|PMID:30287823|PMID:31159747|PMID:32068069|PMID:33471991 12277940 STK11 serine/threonine kinase 11 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1318548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 12277940 STK11 serine/threonine kinase 11 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318548 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:25741868 12277940 STK11 serine/threonine kinase 11 gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1318548 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:25741868|PMID:26467025|PMID:28135145|PMID:28492532|PMID:33471991 12277940 STK11 serine/threonine kinase 11 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified PMID:25741868|PMID:26080840|PMID:26295973|PMID:28492532 12277940 STK11 serine/threonine kinase 11 gene DOID:10534 stomach cancer ISO RGD:1318548 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:30287823|PMID:32980694|PMID:36988593 12277940 STK11 serine/threonine kinase 11 gene DOID:10763 hypertension ISO RGD:1318548 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19289642 12277940 STK11 serine/threonine kinase 11 gene DOID:1319 brain cancer ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain cancer PMID:25741868|PMID:28492532 12277940 STK11 serine/threonine kinase 11 gene DOID:1324 lung cancer ISO RGD:1318548 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12277940 STK11 serine/threonine kinase 11 gene DOID:1380 endometrial cancer ISO RGD:1318548 D RGD:9068941 20200609 RGD PMID:18245476|REF_RGD_ID:2291944 12277940 STK11 serine/threonine kinase 11 gene DOID:1380 endometrial cancer ISO RGD:1318549 D RGD:9068941 20200609 RGD PMID:18245476|REF_RGD_ID:2291944 12277940 STK11 serine/threonine kinase 11 gene DOID:1380 endometrial cancer ISO RGD:1318549 D RGD:9068941 20220825 MouseDO OMIM:608089 12277940 STK11 serine/threonine kinase 11 gene DOID:14566 disease of cellular proliferation ISO RGD:1318548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:10208439|PMID:10408777|PMID:10429654|PMID:10676634|PMID:11668633|PMID:12865922|PMID:15188174|PMID:15863673|PMID:16287113|PMID:16582077|PMID:16707622|PMID:17026623|PMID:17676035|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20435009|PMID:21191700|PMID:23399955|PMID:23555315|PMID:23639312|PMID:23718779|PMID:24857785|PMID:24998845|PMID:25157968|PMID:25226294|PMID:25343854|PMID:25741868|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:27081308|PMID:28152038|PMID:28492532|PMID:28977883|PMID:30287823|PMID:30528796|PMID:31159747|PMID:32566746|PMID:9731485 12277940 STK11 serine/threonine kinase 11 gene DOID:1520 colon carcinoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:14623934|PMID:15121768|PMID:25186949|PMID:25741868|PMID:26467025|PMID:28492532 12277940 STK11 serine/threonine kinase 11 gene DOID:1612 breast cancer ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10429655|PMID:12533684|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17576681|PMID:17711506|PMID:20082862|PMID:20393878|PMID:20722467|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24728327|PMID:24793789|PMID:24830819|PMID:25142776|PMID:25179843|PMID:25186627|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28577310|PMID:28821472|PMID:28873162|PMID:30287823|PMID:9536098 12277940 STK11 serine/threonine kinase 11 gene DOID:1612 breast cancer ISO RGD:1318548 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10429655|PMID:12533684|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:20082862|PMID:20393878|PMID:20722467|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24728327|PMID:24793789|PMID:24830819|PMID:25142776|PMID:25179843|PMID:25186627|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28577310|PMID:28821472|PMID:28873162|PMID:30287823 12277940 STK11 serine/threonine kinase 11 gene DOID:1612 breast cancer ISO RGD:1318548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10429655|PMID:12533684|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:20082862|PMID:20393878|PMID:20722467|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24728327|PMID:24793789|PMID:24830819|PMID:25142776|PMID:25179843|PMID:25186627|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28577310|PMID:28821472|PMID:28873162|PMID:30287823|PMID:30426508|PMID:30833958|PMID:33471991 12277940 STK11 serine/threonine kinase 11 gene DOID:1749 squamous cell carcinoma ISO RGD:1318548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 12277940 STK11 serine/threonine kinase 11 gene DOID:1793 pancreatic cancer ISO RGD:1318548 D RGD:7240710 20180130 OMIM 12277940 STK11 serine/threonine kinase 11 gene DOID:1909 melanoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Melanoma PMID:10201537|PMID:10208439|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24830819|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28821472|PMID:28873162|PMID:29458332 12277940 STK11 serine/threonine kinase 11 gene DOID:1909 melanoma ISO RGD:1318548 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Melanoma PMID:10208439|PMID:27467201|PMID:32647375 12277940 STK11 serine/threonine kinase 11 gene DOID:219 colon cancer ISO RGD:1318548 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:25741868|PMID:28492532 12277940 STK11 serine/threonine kinase 11 gene DOID:2394 ovarian cancer ISO RGD:1318548 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:10429654|PMID:10676634|PMID:17711506|PMID:18594528|PMID:19892943|PMID:21191700|PMID:23555315|PMID:24857785|PMID:25157968|PMID:25343854|PMID:25741868|PMID:26164066|PMID:26319365|PMID:26467025|PMID:26692440|PMID:26837502|PMID:27153395|PMID:27311873|PMID:27978560|PMID:28492532|PMID:28977883|PMID:30093976|PMID:30287823|PMID:31775759|PMID:32566746|PMID:32720237|PMID:33471991|PMID:34011629 12277940 STK11 serine/threonine kinase 11 gene DOID:2871 endometrial carcinoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25741868|PMID:26467025|PMID:28492532 12277940 STK11 serine/threonine kinase 11 gene DOID:299 adenocarcinoma ISO RGD:1318548 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17676035 12277940 STK11 serine/threonine kinase 11 gene DOID:2998 testicular cancer ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of testis PMID:9605748|PMID:9887330 12277940 STK11 serine/threonine kinase 11 gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma PMID:25741868|PMID:28492532 12277940 STK11 serine/threonine kinase 11 gene DOID:3459 breast carcinoma ISO RGD:1318548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:16287113|PMID:17676035|PMID:24033266|PMID:25186627|PMID:25452441|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:28492532|PMID:28873162|PMID:29785153|PMID:30092773|PMID:30287823|PMID:30426508|PMID:31159747|PMID:33309985|PMID:34849607 12277940 STK11 serine/threonine kinase 11 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1318548 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26887594 12277940 STK11 serine/threonine kinase 11 gene DOID:3701 cervical mucinous adenocarcinoma disease_progression ISO RGD:1318548 D RGD:9068941 20200609 RGD DNA:mutations PMID:12533684|REF_RGD_ID:2291947 12277940 STK11 serine/threonine kinase 11 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1318548 D RGD:7240710 20180130 OMIM 12277940 STK11 serine/threonine kinase 11 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1318548 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:10208439|PMID:10217080|PMID:10353780|PMID:10362809|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11103790|PMID:11297520|PMID:11389158|PMID:11430832|PMID:11668633|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12829253|PMID:12865922|PMID:14623934|PMID:14970844|PMID:15121768|PMID:15188174|PMID:15200509|PMID:15399020|PMID:15561763|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16648371|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18594528|PMID:18687677|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19250387|PMID:19340305|PMID:19727776|PMID:19763152|PMID:19892943|PMID:20082862|PMID:20223037|PMID:20307669|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20616022|PMID:20623358|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:21411391|PMID:21816872|PMID:22382802|PMID:22406018|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22775437|PMID:22942091|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23426006|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24054548|PMID:24260271|PMID:24304607|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24949325|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25326637|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25841653|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26625312|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27550049|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27721366|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28231849|PMID:28303455|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30334930|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31217475|PMID:31269945|PMID:31422818|PMID:31465090|PMID:31515776|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32566746|PMID:32573125|PMID:32658311|PMID:32720237|PMID:32957588|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34284872|PMID:34849607|PMID:35467778|PMID:837816|PMID:9399902|PMID:9425897|PMID:9428765|PMID:9536098|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9934767 12277940 STK11 serine/threonine kinase 11 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:15800014|PMID:17676035|PMID:25741868|PMID:28492532 12277940 STK11 serine/threonine kinase 11 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1318548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:15800014|PMID:17676035|PMID:19892943|PMID:25741868|PMID:28492532 12277940 STK11 serine/threonine kinase 11 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:25157968 12277940 STK11 serine/threonine kinase 11 gene DOID:3910 lung adenocarcinoma ISO RGD:1318548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10408777|PMID:12865922|PMID:15863673|PMID:16287113|PMID:16582077|PMID:17026623|PMID:17676035|PMID:19892943|PMID:20393878|PMID:20435009|PMID:23399955|PMID:23718779|PMID:25157968|PMID:25226294|PMID:25741868|PMID:26056085|PMID:26467025|PMID:27081308|PMID:27993330|PMID:28152038|PMID:28492532|PMID:30528796|PMID:31159747 12277940 STK11 serine/threonine kinase 11 gene DOID:4001 ovarian carcinoma susceptibility ISO RGD:1318548 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity, missense mutation:p.P281L PMID:10429654|REF_RGD_ID:2298556 12277940 STK11 serine/threonine kinase 11 gene DOID:4606 bile duct cancer ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:25741868|PMID:28492532 12277940 STK11 serine/threonine kinase 11 gene DOID:4905 pancreatic carcinoma ISO RGD:1318548 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:10362809|PMID:11430832|PMID:15188174|PMID:15800014|PMID:16287113|PMID:19340305|PMID:20393878|PMID:23399955|PMID:23555315|PMID:23893923|PMID:24033266|PMID:24307375|PMID:24652667|PMID:24728327|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26056085|PMID:26467025|PMID:27615706|PMID:28135145|PMID:28492532|PMID:29748005|PMID:30287823|PMID:30374176|PMID:30982232|PMID:31159747|PMID:32068069|PMID:32566746|PMID:33471991 12277940 STK11 serine/threonine kinase 11 gene DOID:5339 cyclic hematopoiesis ISO RGD:1318548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12277940 STK11 serine/threonine kinase 11 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:25741868|PMID:26467025|PMID:28492532|PMID:31775759 12277940 STK11 serine/threonine kinase 11 gene DOID:5557 testicular germ cell cancer ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis 12277940 STK11 serine/threonine kinase 11 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:24033266|PMID:24307375|PMID:24728327|PMID:24857785|PMID:25157968|PMID:25343854|PMID:25741868|PMID:26010451|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:28135145|PMID:28492532|PMID:28577310|PMID:28873162|PMID:28977883|PMID:30287823|PMID:30982232|PMID:32566746 12277940 STK11 serine/threonine kinase 11 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24728327|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30982232|PMID:31269945|PMID:32566746|PMID:33471991 12277940 STK11 serine/threonine kinase 11 gene DOID:6225 Cronkhite-Canada syndrome ISO RGD:1318548 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intestinal polyposis PMID:25741868|PMID:28492532|PMID:30287823 12277940 STK11 serine/threonine kinase 11 gene DOID:630 genetic disease ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10441497|PMID:12552571|PMID:12865922|PMID:15121768|PMID:15863673|PMID:16287113|PMID:16582077|PMID:17404884|PMID:19727776|PMID:23415580|PMID:25741868|PMID:28492532|PMID:9809980 12277940 STK11 serine/threonine kinase 11 gene DOID:687 hepatoblastoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:28492532 12277940 STK11 serine/threonine kinase 11 gene DOID:7998 hyperthyroidism ISO RGD:1308653 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:muscle: PMID:18669938|REF_RGD_ID:10059691 12277940 STK11 serine/threonine kinase 11 gene DOID:8634 prostate carcinoma in situ ISO RGD:1318549 D RGD:9068941 20200609 RGD PMID:18381428|REF_RGD_ID:2291943 12277940 STK11 serine/threonine kinase 11 gene DOID:8923 skin melanoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY PMID:10201537|PMID:10208439|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24830819|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28821472|PMID:28873162|PMID:29458332 12277940 STK11 serine/threonine kinase 11 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1318548 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:decreased expression PMID:12114407|REF_RGD_ID:2291948 12277940 STK11 serine/threonine kinase 11 gene DOID:9000881 Cutaneous Malignant Melanoma, Susceptibility To, 1 ISO RGD:1318548 D RGD:7240710 20210303 OMIM 12277940 STK11 serine/threonine kinase 11 gene DOID:9000881 Cutaneous Malignant Melanoma, Susceptibility To, 1 ISO RGD:1318548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 PMID:10201537|PMID:10208439|PMID:11668633|PMID:15188174|PMID:16287113|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24830819|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27467201|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28726808|PMID:28821472|PMID:28873162|PMID:29458332|PMID:30287823|PMID:32647375 12277940 STK11 serine/threonine kinase 11 gene DOID:9003100 Pancreatic Neoplasms ISO RGD:1318548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pancreatic neoplasm PMID:10408777|PMID:12865922|PMID:16287113|PMID:16582077|PMID:17026623|PMID:20435009|PMID:21189378|PMID:23399955|PMID:23718779|PMID:25226294|PMID:28492532 12277940 STK11 serine/threonine kinase 11 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1318548 D RGD:7240710 20180130 OMIM 12277940 STK11 serine/threonine kinase 11 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis 12277940 STK11 serine/threonine kinase 11 gene DOID:9003936 Cardiomegaly ISO RGD:1318549 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:17098823|REF_RGD_ID:1601391 12277940 STK11 serine/threonine kinase 11 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1318548 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19289642 12277940 STK11 serine/threonine kinase 11 gene DOID:9005172 Lung Neoplasms ISO RGD:1318548 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17676035 12277940 STK11 serine/threonine kinase 11 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:28492532 12277940 STK11 serine/threonine kinase 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318548 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17404884|PMID:17576681|PMID:17676035|PMID:17711506|PMID:18321849|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28640387|PMID:28724667|PMID:28767289|PMID:28821472|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29641532|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30455982|PMID:30528796|PMID:30669267|PMID:30982232|PMID:31159747|PMID:31269945|PMID:31422818|PMID:31465090|PMID:31592449|PMID:31712642|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32566746|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348 12277940 STK11 serine/threonine kinase 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30455982|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31217475|PMID:31269945|PMID:31422818|PMID:31465090|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32957588|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34849607|PMID:35467778|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767 12277940 STK11 serine/threonine kinase 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318548 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25326637|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31217475|PMID:31269945|PMID:31422818|PMID:31465090|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34284872|PMID:34849607|PMID:35467778|PMID:36988593|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767 12277940 STK11 serine/threonine kinase 11 gene DOID:9007502 Brain Neoplasms ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant brain neoplasm PMID:25741868|PMID:28492532 12277940 STK11 serine/threonine kinase 11 gene DOID:9007692 Insulin Resistance ISO RGD:1308653 D RGD:9068941 20200609 RGD associated with obesity;protein:decreased expression:gastrocnemius PMID:16352671|REF_RGD_ID:1601389 12277940 STK11 serine/threonine kinase 11 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1318548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12277940 STK11 serine/threonine kinase 11 gene DOID:9970 obesity ISO RGD:1308653 D RGD:9068941 20200609 RGD protein:decreased expression:gastrocnemius PMID:16352671|REF_RGD_ID:1601389 12277961 LAPTM5 lysosomal protein transmembrane 5 gene DOID:2986 IgA glomerulonephritis ISO RGD:1354375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 12277961 LAPTM5 lysosomal protein transmembrane 5 gene DOID:630 genetic disease ISO RGD:1354375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277961 LAPTM5 lysosomal protein transmembrane 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12277974 FEV FEV transcription factor, ETS family member gene DOID:0060041 autism spectrum disorder ISO RGD:1351543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 12277974 FEV FEV transcription factor, ETS family member gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1351543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12277974 FEV FEV transcription factor, ETS family member gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1351543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12277974 FEV FEV transcription factor, ETS family member gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1351543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12277974 FEV FEV transcription factor, ETS family member gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1351543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12277974 FEV FEV transcription factor, ETS family member gene DOID:630 genetic disease ISO RGD:1351543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277974 FEV FEV transcription factor, ETS family member gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12277974 FEV FEV transcription factor, ETS family member gene DOID:9007102 Myocardial Ischemia ISO RGD:1351543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12277983 FAM151A family with sequence similarity 151 member A gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1603341 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs11206394) G>C (human) PMID:27354594|REF_RGD_ID:152177496 12277983 FAM151A family with sequence similarity 151 member A gene DOID:630 genetic disease ISO RGD:1603341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12277995 ITGAD integrin subunit alpha D gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:731798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12277995 ITGAD integrin subunit alpha D gene DOID:10283 prostate cancer ISO RGD:731798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12277995 ITGAD integrin subunit alpha D gene DOID:630 genetic disease ISO RGD:731798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278027 MID1IP1 MID1 interacting protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12278027 MID1IP1 MID1 interacting protein 1 gene DOID:12849 autistic disorder ISO RGD:1344749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12278027 MID1IP1 MID1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1344749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278027 MID1IP1 MID1 interacting protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344749 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12278027 MID1IP1 MID1 interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12278027 MID1IP1 MID1 interacting protein 1 gene DOID:9006836 Contracture ISO RGD:1344749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 12278027 MID1IP1 MID1 interacting protein 1 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1344749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 12278038 DUSP22 dual specificity phosphatase 22 gene DOID:13938 amenorrhea ISO RGD:1316166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12278038 DUSP22 dual specificity phosphatase 22 gene DOID:630 genetic disease ISO RGD:1316166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278065 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:0050758 metabolic acidosis ISO RGD:736480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metabolic acidosis PMID:25741868 12278065 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:0080600 COVID-19 ISO RGD:736480 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12278065 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:0111277 mitochondrial trifunctional protein deficiency ISO RGD:736480 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:12754706|PMID:15902556|PMID:16199547|PMID:16423905|PMID:16523289|PMID:17143551|PMID:17576681|PMID:19699128|PMID:19880769|PMID:21549624|PMID:22494545|PMID:23757202|PMID:24033266|PMID:24314034|PMID:24664533|PMID:25741868|PMID:26109258|PMID:27014569|PMID:27491397|PMID:28492532|PMID:28515471|PMID:28871440|PMID:29956646|PMID:30682426|PMID:31130284|PMID:34578803|PMID:8651282|PMID:9259266|PMID:9536098 12278065 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:736480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12278065 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:736480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:24314034 12278065 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:10652 Alzheimer's disease ISO RGD:736480 D RGD:9068941 20200609 RGD protein:decreased_expression:vascular smooth muscle cells:little or no expression in VSMCs in arteries with amyloid deposits PMID:11430884|REF_RGD_ID:1600786 12278065 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:114 heart disease ISO RGD:736480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17116638 12278065 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:3146 lipid metabolism disorder ISO RGD:736480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17116638 12278065 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:630 genetic disease ISO RGD:736480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12278065 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:700 mitochondrial metabolism disease ISO RGD:736480 D RGD:9068941 20200609 RGD Mitochondrial trifunctional protein deficiency, OMIM:609015; DNA:point_mutations:CDS:compound heterozygote 182G>A amino acid R61H, and 740G>A amino acid R247H PMID:8651282|REF_RGD_ID:1600779 12278065 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:9002828 Mitochondrial Trifunctional Protein Deficiency 2 ISO RGD:736480 D RGD:7240710 20230505 OMIM 12278065 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:9002828 Mitochondrial Trifunctional Protein Deficiency 2 ISO RGD:736480 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency 2 | ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency 2 with myopathy and neuropathy PMID:12754706|PMID:16423905|PMID:19699128|PMID:19880769|PMID:24664533|PMID:25741868|PMID:28492532|PMID:28515471|PMID:29956646|PMID:8163672|PMID:8651282|PMID:9259266 12278065 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:736480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 12278065 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:9008939 Breast Neoplasms ISO RGD:736480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12278065 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:9452 fatty liver disease ISO RGD:736480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17116638 12278088 SZRD1 SUZ RNA binding domain containing 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1607050 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12278102 C1H6orf58 chromosome 1 C6orf58 homolog gene DOID:630 genetic disease ISO RGD:1350193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278111 CD9 CD9 molecule gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:732702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12278111 CD9 CD9 molecule gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732702 D RGD:9068941 20200609 RGD PMID:14534881|REF_RGD_ID:2326207 12278111 CD9 CD9 molecule gene DOID:1380 endometrial cancer ISO RGD:732702 D RGD:9068941 20200609 RGD PMID:11505398|REF_RGD_ID:2326208 12278111 CD9 CD9 molecule gene DOID:2394 ovarian cancer disease_progression ISO RGD:732702 D RGD:9068941 20200609 RGD protein:decreased expression, altered localization:ovary PMID:12079303|REF_RGD_ID:2289405 12278111 CD9 CD9 molecule gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:732702 D RGD:9068941 20200609 RGD DNA, mRNA:deletion, point mutation, decreased expression:prostate gland PMID:17406028|REF_RGD_ID:2326197 12278111 CD9 CD9 molecule gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:732702 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:17393117|REF_RGD_ID:2289390 12278111 CD9 CD9 molecule gene DOID:2893 cervix carcinoma disease_progression ISO RGD:732702 D RGD:9068941 20200609 RGD PMID:14695144|REF_RGD_ID:2326206 12278111 CD9 CD9 molecule gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:732702 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 12278111 CD9 CD9 molecule gene DOID:3068 glioblastoma ISO RGD:732702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26573230 12278111 CD9 CD9 molecule gene DOID:3459 breast carcinoma disease_progression ISO RGD:732702 D RGD:9068941 20200609 RGD PMID:16132579|REF_RGD_ID:2326200 12278111 CD9 CD9 molecule gene DOID:3908 lung non-small cell carcinoma ISO RGD:732702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043644 12278111 CD9 CD9 molecule gene DOID:5082 liver cirrhosis ISO RGD:732702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 12278111 CD9 CD9 molecule gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:732702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 12278111 CD9 CD9 molecule gene DOID:9002304 Prostatic Neoplasms ISO RGD:732702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12278111 CD9 CD9 molecule gene DOID:9002955 Nerve Degeneration ISO RGD:732702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19522546 12278111 CD9 CD9 molecule gene DOID:9007456 Female Infertility ISO RGD:732703 D RGD:9068941 20200609 RGD PMID:10634790|REF_RGD_ID:734730 12278111 CD9 CD9 molecule gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:732702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12278111 CD9 CD9 molecule gene DOID:9008443 Colorectal Neoplasms ISO RGD:732702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 12278111 CD9 CD9 molecule gene DOID:9119 acute myeloid leukemia ISO RGD:732702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12278124 LOC612407 SERTA domain containing 2 gene DOID:630 genetic disease ISO RGD:1350169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278131 SELENOI selenoprotein I gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1604559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12278131 SELENOI selenoprotein I gene DOID:0112349 hereditary spastic paraplegia 81 ISO RGD:1604559 D RGD:7240710 20200226 OMIM 12278131 SELENOI selenoprotein I gene DOID:0112349 hereditary spastic paraplegia 81 ISO RGD:1604559 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 81, autosomal recessive PMID:25741868|PMID:28052917|PMID:29500230 12278131 SELENOI selenoprotein I gene DOID:630 genetic disease ISO RGD:1604559 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278153 SPINK6 serine peptidase inhibitor Kazal type 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1351307 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12278153 SPINK6 serine peptidase inhibitor Kazal type 6 gene DOID:630 genetic disease ISO RGD:1351307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278153 SPINK6 serine peptidase inhibitor Kazal type 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12278153 SPINK6 serine peptidase inhibitor Kazal type 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1351307 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12278189 MIR107 microRNA mir-107 gene DOID:1793 pancreatic cancer severity ISO RGD:1346170 D RGD:9068941 20200609 RGD PMID:28720759|REF_RGD_ID:14975279 12278189 MIR107 microRNA mir-107 gene DOID:3525 middle cerebral artery infarction ISO RGD:2325578 D RGD:9068941 20210723 RGD RNA:increased expression:brain PMID:26294080|REF_RGD_ID:11553310 12278189 MIR107 microRNA mir-107 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1346170 D RGD:9068941 20210521 RGD mRNA:decreased expression:lung (human) PMID:30280776|REF_RGD_ID:126925764 12278189 MIR107 microRNA mir-107 gene DOID:6000 congestive heart failure ISO RGD:1346170 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12278189 MIR107 microRNA mir-107 gene DOID:684 hepatocellular carcinoma ISO RGD:1346170 D RGD:9068941 20200609 RGD RNA:decreased expression:liver: PMID:27773820|REF_RGD_ID:14975278 12278189 MIR107 microRNA mir-107 gene DOID:684 hepatocellular carcinoma ISO RGD:1346170 D RGD:9068941 20200609 RGD RNA:increased expression:liver: PMID:26191213|REF_RGD_ID:11066920 12278189 MIR107 microRNA mir-107 gene DOID:684 hepatocellular carcinoma onset ISO RGD:1346170 D RGD:9068941 20200609 RGD PMID:28079796|REF_RGD_ID:14975300 12278189 MIR107 microRNA mir-107 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1346170 D RGD:9068941 20200609 RGD PMID:30738047|REF_RGD_ID:14975277 12278189 MIR107 microRNA mir-107 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1346170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 12278189 MIR107 microRNA mir-107 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1346170 D RGD:9068941 20200609 RGD RNA:decreased expression:liver: PMID:24429361|REF_RGD_ID:14975280 12278189 MIR107 microRNA mir-107 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25359176|PMID:28545106 12278189 MIR107 microRNA mir-107 gene DOID:9256 colorectal cancer ISO RGD:1346170 D RGD:9068941 20220728 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12278189 MIR107 microRNA mir-107 gene DOID:9970 obesity ISO RGD:1608225 D RGD:9068941 20200609 RGD RNA:decreased expression:liver: PMID:21120623|REF_RGD_ID:14975298 12278192 LCE6A late cornified envelope 6A gene DOID:0111940 immunodeficiency 42 ISO RGD:1343793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12278192 LCE6A late cornified envelope 6A gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1343793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12278192 LCE6A late cornified envelope 6A gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1343793 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12278192 LCE6A late cornified envelope 6A gene DOID:1540 parathyroid carcinoma ISO RGD:1343793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12278192 LCE6A late cornified envelope 6A gene DOID:5812 MHC class II deficiency ISO RGD:1343793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12278192 LCE6A late cornified envelope 6A gene DOID:630 genetic disease ISO RGD:1343793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278192 LCE6A late cornified envelope 6A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12278308 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:0060041 autism spectrum disorder ISO RGD:735762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20868653 12278308 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:1936 atherosclerosis treatment ISO RGD:735763 D RGD:9068941 20221117 RGD PMID:30909142|REF_RGD_ID:155663380 12278308 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:264 hemangiopericytoma ISO RGD:735762 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:anterior temporal lobe PMID:26951238|REF_RGD_ID:155663351 12278308 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:3068 glioblastoma ISO RGD:735762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 12278308 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:3069 malignant astrocytoma ISO RGD:735762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 12278308 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:3181 oligodendroglioma ISO RGD:735762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 12278308 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:735763 D RGD:9068941 20200609 RGD protein:increased expression:spinal chord PMID:26067594|REF_RGD_ID:13524575 12278308 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:735762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 12278308 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:5199 ureteral obstruction ISO RGD:735762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 12278308 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:5241 hemangioblastoma ISO RGD:735762 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:temporal lobe : PMID:27388534|REF_RGD_ID:155641257 12278308 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:630 genetic disease ISO RGD:735762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278308 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:6432 pulmonary hypertension ISO RGD:735763 D RGD:9068941 20221110 RGD mRNA:decreased expression:lung: PMID:34739767|REF_RGD_ID:155646132 12278308 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:735762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 12278308 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:9005172 Lung Neoplasms ISO RGD:735762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17804716 12278308 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:621403 D RGD:9068941 20200609 RGD PMID:11971902|REF_RGD_ID:625426 12278308 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 12278308 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:9351 diabetes mellitus ISO RGD:621403 D RGD:9068941 20221110 RGD protein:increased expression:skin: PMID:30886104|REF_RGD_ID:155646129 12278308 HEY1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:9351 diabetes mellitus ISO RGD:735763 D RGD:9068941 20221110 RGD protein:increased expression:skin: PMID:30886104|REF_RGD_ID:155646129 12278317 NUP37 nucleoporin 37 gene DOID:630 genetic disease ISO RGD:1317159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278317 NUP37 nucleoporin 37 gene DOID:9009243 Primary Autosomal Recessive Microcephaly 24 ISO RGD:1317159 D RGD:7240710 20190315 OMIM 12278317 NUP37 nucleoporin 37 gene DOID:9009243 Primary Autosomal Recessive Microcephaly 24 ISO RGD:1317159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 24, primary, autosomal recessive PMID:25741868|PMID:30179222 12278335 NCOA7 nuclear receptor coactivator 7 gene DOID:630 genetic disease ISO RGD:1603583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278335 NCOA7 nuclear receptor coactivator 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1603583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 12278398 STX2 syntaxin 2 gene DOID:12336 male infertility ISO RGD:732157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18277055 12278398 STX2 syntaxin 2 gene DOID:630 genetic disease ISO RGD:732157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278415 RAB28 RAB28, member RAS oncogene family gene DOID:0050572 cone-rod dystrophy ISO RGD:736462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:23746546 12278415 RAB28 RAB28, member RAS oncogene family gene DOID:0111024 cone-rod dystrophy 18 ISO RGD:736462 D RGD:7240710 20180130 OMIM 12278415 RAB28 RAB28, member RAS oncogene family gene DOID:0111024 cone-rod dystrophy 18 ISO RGD:736462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 18 PMID:23746546|PMID:23806086|PMID:24088041|PMID:25356532|PMID:25741868|PMID:28492532 12278415 RAB28 RAB28, member RAS oncogene family gene DOID:10584 retinitis pigmentosa ISO RGD:736462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:30718709 12278415 RAB28 RAB28, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:736462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12278415 RAB28 RAB28, member RAS oncogene family gene DOID:8501 fundus dystrophy ISO RGD:736462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 12278429 GINS3 GINS complex subunit 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604313 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12278429 GINS3 GINS complex subunit 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604313 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12278429 GINS3 GINS complex subunit 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604313 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12278429 GINS3 GINS complex subunit 3 gene DOID:630 genetic disease ISO RGD:1604313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278436 ZNF319 zinc finger protein 319 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314677 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12278436 ZNF319 zinc finger protein 319 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314677 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12278436 ZNF319 zinc finger protein 319 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1314677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12278436 ZNF319 zinc finger protein 319 gene DOID:630 genetic disease ISO RGD:1314677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278448 TOX3 TOX high mobility group box family member 3 gene DOID:630 genetic disease ISO RGD:1323035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278448 TOX3 TOX high mobility group box family member 3 gene DOID:9000357 Male Breast Neoplasms ISO RGD:1323035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23001122 12278448 TOX3 TOX high mobility group box family member 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1323035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12278448 TOX3 TOX high mobility group box family member 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1323035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17529967 12278459 COMTD1 catechol-O-methyltransferase domain containing 1 gene DOID:630 genetic disease ISO RGD:1315279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278459 COMTD1 catechol-O-methyltransferase domain containing 1 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1315279 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 12278469 ZNF655 zinc finger protein 655 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12278469 ZNF655 zinc finger protein 655 gene DOID:630 genetic disease ISO RGD:1351627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278492 TBKBP1 TBK1 binding protein 1 gene DOID:630 genetic disease ISO RGD:731934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278492 TBKBP1 TBK1 binding protein 1 gene DOID:7147 ankylosing spondylitis ISO RGD:731934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743469 12278505 OTULINL OTU deubiquitinase with linear linkage specificity like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12278520 GPR39 G protein-coupled receptor 39 gene DOID:630 genetic disease ISO RGD:1315539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278526 RIC3 RIC3 acetylcholine receptor chaperone gene DOID:630 genetic disease ISO RGD:1606245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12278526 RIC3 RIC3 acetylcholine receptor chaperone gene DOID:8501 fundus dystrophy ISO RGD:1606245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:28492532|PMID:9536098 12278526 RIC3 RIC3 acetylcholine receptor chaperone gene DOID:9009014 Retinal Dystrophy and Obesity ISO RGD:1606245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy and obesity PMID:16199547|PMID:24375934|PMID:25741868|PMID:28492532|PMID:31785789 12278543 GNG5 G protein subunit gamma 5 gene DOID:630 genetic disease ISO RGD:737441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278543 GNG5 G protein subunit gamma 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12278551 LOC100684878 zinc finger protein 426 gene DOID:12849 autistic disorder ISO RGD:1318534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12278551 LOC100684878 zinc finger protein 426 gene DOID:630 genetic disease ISO RGD:1318534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278571 PRKAR2A protein kinase cAMP-dependent type II regulatory subunit alpha gene DOID:6000 congestive heart failure ISO RGD:732434 D RGD:9068941 20200609 RGD PMID:10830164|REF_RGD_ID:1580714 12278571 PRKAR2A protein kinase cAMP-dependent type II regulatory subunit alpha gene DOID:630 genetic disease ISO RGD:732434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278571 PRKAR2A protein kinase cAMP-dependent type II regulatory subunit alpha gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:732434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12278571 PRKAR2A protein kinase cAMP-dependent type II regulatory subunit alpha gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:732434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12278586 RRP36 ribosomal RNA processing 36 gene DOID:0050444 infantile Refsum disease ISO RGD:1317478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12278586 RRP36 ribosomal RNA processing 36 gene DOID:630 genetic disease ISO RGD:1317478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278586 RRP36 ribosomal RNA processing 36 gene DOID:905 Zellweger syndrome ISO RGD:1317478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12278597 MIR345 microRNA 345 gene DOID:5082 liver cirrhosis ISO RGD:1343414 D RGD:9068941 20230518 CTD CTD Direct Evidence: therapeutic PMID:36126797 12278597 MIR345 microRNA mir-345 gene DOID:3770 pulmonary fibrosis ISO RGD:1343414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 12278597 MIR345 microRNA mir-345 gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:1343414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 12278597 MIR345 microRNA mir-345 gene DOID:657 adenoma ISO RGD:1343414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 12278597 MIR345 microRNA mir-345 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1343414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12278597 MIR345 microRNA mir-345 gene DOID:9008939 Breast Neoplasms ISO RGD:1343414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 12278617 TMEM145 transmembrane protein 145 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12278617 TMEM145 transmembrane protein 145 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1602052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12278617 TMEM145 transmembrane protein 145 gene DOID:2340 craniosynostosis ISO RGD:1602052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12278617 TMEM145 transmembrane protein 145 gene DOID:5419 schizophrenia ISO RGD:1602052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12278617 TMEM145 transmembrane protein 145 gene DOID:630 genetic disease ISO RGD:1602052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278617 TMEM145 transmembrane protein 145 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1602052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12278617 TMEM145 transmembrane protein 145 gene DOID:9269 maple syrup urine disease ISO RGD:1602052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12278646 ZNF260 zinc finger protein 260 gene DOID:630 genetic disease ISO RGD:1606913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278653 GH1 growth hormone gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:1342785 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pituitary dwarfism 1 PMID:25741868 12278653 GH1 growth hormone gene DOID:630 genetic disease ISO RGD:1342785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278668 RPS19BP1 ribosomal protein S19 binding protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1602664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12278668 RPS19BP1 ribosomal protein S19 binding protein 1 gene DOID:630 genetic disease ISO RGD:1602664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278676 ARG1 arginase 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12278676 ARG1 arginase 1 gene DOID:0060180 colitis severity ISO RGD:1353986 D RGD:9068941 20201023 RGD PMID:28423665|REF_RGD_ID:39939041 12278676 ARG1 arginase 1 gene DOID:0080000 muscular disease ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 12278676 ARG1 arginase 1 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:736430 D RGD:9068941 20200619 RGD mRNA:increased expression:lung PMID:31838832|REF_RGD_ID:30309204 12278676 ARG1 arginase 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:2150 D RGD:9068941 20200609 RGD PMID:20697209|REF_RGD_ID:4142795 12278676 ARG1 arginase 1 gene DOID:0081190 autosomal recessive intellectual developmental disorder 18 ISO RGD:1353986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 18, WITH OR WITHOUT EPILEPSY PMID:25741868|PMID:28492532 12278676 ARG1 arginase 1 gene DOID:10320 asbestosis ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26699812 12278676 ARG1 arginase 1 gene DOID:10325 silicosis ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292275 12278676 ARG1 arginase 1 gene DOID:10325 silicosis ISO RGD:2150 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:17365572|REF_RGD_ID:4143368 12278676 ARG1 arginase 1 gene DOID:10763 hypertension ISO RGD:2150 D RGD:9068941 20200609 RGD PMID:18475148|REF_RGD_ID:4142834 12278676 ARG1 arginase 1 gene DOID:10763 hypertension ISO RGD:2150 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta (rat) PMID:17223136|REF_RGD_ID:1626296 12278676 ARG1 arginase 1 gene DOID:13141 uveitis ISO RGD:2150 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:eye (rat) PMID:12470967|REF_RGD_ID:631755 12278676 ARG1 arginase 1 gene DOID:13580 cholestasis ISO RGD:2150 D RGD:9068941 20200609 RGD protein:altered activity:liver (rat) PMID:15916970|REF_RGD_ID:4143230 12278676 ARG1 arginase 1 gene DOID:2841 asthma ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19281908|PMID:19800904 12278676 ARG1 arginase 1 gene DOID:2841 asthma ISO RGD:1353986 D RGD:9068941 20200609 RGD DNA:SNP: :rs2781667 (human) PMID:20124949|REF_RGD_ID:5129205 12278676 ARG1 arginase 1 gene DOID:2841 asthma ISO RGD:1353986 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, mononuclear cell (human) PMID:12813022|REF_RGD_ID:4143187 12278676 ARG1 arginase 1 gene DOID:2841 asthma ISO RGD:736430 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:12813022|REF_RGD_ID:4143187 12278676 ARG1 arginase 1 gene DOID:2914 immune system disease ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 12278676 ARG1 arginase 1 gene DOID:3021 acute kidney failure ISO RGD:2150 D RGD:9068941 20200609 RGD mRNA:decreased expression:renal tubule (rat) PMID:12371970|REF_RGD_ID:631989 12278676 ARG1 arginase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12278676 ARG1 arginase 1 gene DOID:409 liver disease ISO RGD:2150 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:16872590|REF_RGD_ID:1599211 12278676 ARG1 arginase 1 gene DOID:421 hair disease ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 12278676 ARG1 arginase 1 gene DOID:5199 ureteral obstruction ISO RGD:2150 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, glomerulus (rat) PMID:18552509|REF_RGD_ID:4143282 12278676 ARG1 arginase 1 gene DOID:630 genetic disease ISO RGD:1353986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10502833|PMID:12052859|PMID:21802329|PMID:25741868|PMID:28492532|PMID:29726057|PMID:7649538 12278676 ARG1 arginase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1353986 D RGD:9068941 20200609 RGD PMID:17210712|REF_RGD_ID:4140476 12278676 ARG1 arginase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1353986 D RGD:9068941 20220616 RGD associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 12278676 ARG1 arginase 1 gene DOID:9001015 Intestinal Fistula ISO RGD:2150 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:colon (rat) PMID:12654563|REF_RGD_ID:4144044 12278676 ARG1 arginase 1 gene DOID:9001443 Hypercapnia ISO RGD:2150 D RGD:9068941 20200609 RGD protein:decreased expression:lung (rat) PMID:19666777|REF_RGD_ID:4143279 12278676 ARG1 arginase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2150 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver (rat) PMID:11931836|REF_RGD_ID:1626298 12278676 ARG1 arginase 1 gene DOID:9001600 Wounds and Injuries ISO RGD:2150 D RGD:9068941 20200609 RGD protein:increased expression:wound, fibroblast (rat) PMID:12069499|REF_RGD_ID:634666 12278676 ARG1 arginase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2150 D RGD:9068941 20200609 RGD RNA:increased expression:thoracic aorta: PMID:29741931|REF_RGD_ID:13792602 12278676 ARG1 arginase 1 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:1353986 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:16387594|REF_RGD_ID:5129207 12278676 ARG1 arginase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2150 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:17023552|REF_RGD_ID:4143185 12278676 ARG1 arginase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2150 D RGD:9068941 20200609 RGD protein:increased expression:aorta, liver (rat) PMID:17967788|REF_RGD_ID:4142848 12278676 ARG1 arginase 1 gene DOID:9006205 Animal Disease Models ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12278676 ARG1 arginase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22872058 12278676 ARG1 arginase 1 gene DOID:9007480 Hyperoxia ISO RGD:2150 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:9688940|REF_RGD_ID:4144054 12278676 ARG1 arginase 1 gene DOID:9007692 Insulin Resistance ISO RGD:2150 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:20593143|REF_RGD_ID:4142796 12278676 ARG1 arginase 1 gene DOID:9007874 Liver Failure ISO RGD:2150 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:11779202|REF_RGD_ID:70249 12278676 ARG1 arginase 1 gene DOID:9009138 Citrullinemia Type 2 ISO RGD:1353986 D RGD:9068941 20200609 RGD protein:altered expression:liver PMID:3369364|REF_RGD_ID:13628398 12278676 ARG1 arginase 1 gene DOID:9065 leishmaniasis ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21232540 12278676 ARG1 arginase 1 gene DOID:9252 amino acid metabolic disorder ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 12278676 ARG1 arginase 1 gene DOID:9278 hyperargininemia ISO RGD:1353986 D RGD:7240710 20180130 OMIM 12278676 ARG1 arginase 1 gene DOID:9278 hyperargininemia ISO RGD:1353986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arginase deficiency | ClinVar Annotator: match by term: Argininemia PMID:10502833|PMID:11883902|PMID:12052859|PMID:1463019|PMID:15565656|PMID:1598908|PMID:16199547|PMID:17576681|PMID:18666241|PMID:18957279|PMID:19052914|PMID:19562505|PMID:19936428|PMID:21310339|PMID:21802329|PMID:22959135|PMID:22964440|PMID:2365823|PMID:23859858|PMID:24103480|PMID:24482476|PMID:24814679|PMID:25741868|PMID:26169240|PMID:26310552|PMID:27038030|PMID:27898091|PMID:28089752|PMID:28492532|PMID:29443755|PMID:29726057|PMID:30285816|PMID:31130284|PMID:32450233|PMID:32778825|PMID:33193012|PMID:3658675|PMID:480013|PMID:624188|PMID:7649538|PMID:7981719|PMID:8902193|PMID:9536098 12278676 ARG1 arginase 1 gene DOID:9278 hyperargininemia susceptibility ISO RGD:1353986 D RGD:9068941 20200609 RGD PMID:7649538|REF_RGD_ID:1599208 12278688 NSD3 nuclear receptor binding SET domain protein 3 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1319069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 12278688 NSD3 nuclear receptor binding SET domain protein 3 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1319069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 12278688 NSD3 nuclear receptor binding SET domain protein 3 gene DOID:607 paraplegia ISO RGD:1319069 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12278688 NSD3 nuclear receptor binding SET domain protein 3 gene DOID:630 genetic disease ISO RGD:1319069 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278688 NSD3 nuclear receptor binding SET domain protein 3 gene DOID:8692 myeloid leukemia ISO RGD:1319069 D RGD:9068941 20200609 RGD PMID:11986249|REF_RGD_ID:1599847 12278725 SFT2D1 SFT2 domain containing 1 gene DOID:630 genetic disease ISO RGD:1343304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278740 TRANK1 tetratricopeptide repeat and ankyrin repeat containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:2937319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12278740 TRANK1 tetratricopeptide repeat and ankyrin repeat containing 1 gene DOID:3312 bipolar disorder ISO RGD:2937319 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12278740 TRANK1 tetratricopeptide repeat and ankyrin repeat containing 1 gene DOID:3883 Lynch syndrome ISO RGD:2937319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lynch syndrome 12278740 TRANK1 tetratricopeptide repeat and ankyrin repeat containing 1 gene DOID:630 genetic disease ISO RGD:2937319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278777 SLC25A12 solute carrier family 25 member 12 gene DOID:0050432 Asperger syndrome susceptibility ISO RGD:1313056 D RGD:9068941 20200609 RGD DNA:SNP: :rs6716901(human) PMID:24679184|REF_RGD_ID:13628740 12278777 SLC25A12 solute carrier family 25 member 12 gene DOID:0060041 autism spectrum disorder ISO RGD:1313056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12278777 SLC25A12 solute carrier family 25 member 12 gene DOID:0060041 autism spectrum disorder no_association ISO RGD:1313056 D RGD:9068941 20200609 RGD PMID:17151801|REF_RGD_ID:13628739 12278777 SLC25A12 solute carrier family 25 member 12 gene DOID:0080349 developmental and epileptic encephalopathy 39 ISO RGD:1313056 D RGD:7240710 20180130 OMIM 12278777 SLC25A12 solute carrier family 25 member 12 gene DOID:0080349 developmental and epileptic encephalopathy 39 ISO RGD:1313056 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 39 PMID:17576681|PMID:19641205|PMID:24515575|PMID:25741868|PMID:28492532|PMID:31403263|PMID:9536098 12278777 SLC25A12 solute carrier family 25 member 12 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1313056 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 12278777 SLC25A12 solute carrier family 25 member 12 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1313056 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12278777 SLC25A12 solute carrier family 25 member 12 gene DOID:12849 autistic disorder ISO RGD:1313056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15056512|PMID:18348195 12278777 SLC25A12 solute carrier family 25 member 12 gene DOID:12849 autistic disorder susceptibility ISO RGD:1313056 D RGD:9068941 20200609 RGD DNA:snps:introns:IVS3-21A>G (rs2056202), IVS16+70A>G (rs2292813) (human) PMID:15056512|REF_RGD_ID:1358576 12278777 SLC25A12 solute carrier family 25 member 12 gene DOID:1826 epilepsy ISO RGD:1313056 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12278777 SLC25A12 solute carrier family 25 member 12 gene DOID:630 genetic disease ISO RGD:1313056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12278777 SLC25A12 solute carrier family 25 member 12 gene DOID:7148 rheumatoid arthritis ISO RGD:1313056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 12278806 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:0050454 periventricular nodular heterotopia ISO RGD:736195 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12278806 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:0050476 Barth syndrome ISO RGD:736195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12278806 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:0050800 creatine transporter deficiency ISO RGD:736195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12278806 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:0070338 cerebellar hypoplasia ISO RGD:736195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 12278806 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:0112003 immunodeficiency 33 ISO RGD:736195 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12278806 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:10588 adrenoleukodystrophy ISO RGD:736195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12278806 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:1059 intellectual disability ISO RGD:736195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23092983|PMID:25741868 12278806 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:736195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12278806 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:12849 autistic disorder ISO RGD:736195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Epsilon-trimethyllysine hydroxylase deficiency PMID:21681106|PMID:21865298|PMID:22566635|PMID:23092983|PMID:25741868|PMID:30208311 12278806 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:12849 autistic disorder susceptibility ISO RGD:736195 D RGD:7240710 20190502 OMIM 12278806 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:5419 schizophrenia ISO RGD:736195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12278806 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:607 paraplegia ISO RGD:736195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12278806 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:630 genetic disease ISO RGD:736195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278806 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:736195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:31474318 12278806 TMLHE trimethyllysine hydroxylase, epsilon gene DOID:9002720 Splenomegaly ISO RGD:736195 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12278824 TM2D2 TM2 domain containing 2 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1602456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 12278824 TM2D2 TM2 domain containing 2 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1602456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 12278824 TM2D2 TM2 domain containing 2 gene DOID:607 paraplegia ISO RGD:1602456 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12278824 TM2D2 TM2 domain containing 2 gene DOID:630 genetic disease ISO RGD:1602456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278833 CHST8 carbohydrate sulfotransferase 8 gene DOID:0060041 autism spectrum disorder ISO RGD:1319067 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12278833 CHST8 carbohydrate sulfotransferase 8 gene DOID:0060283 peeling skin syndrome ISO RGD:1319067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12278833 CHST8 carbohydrate sulfotransferase 8 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1319067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12278833 CHST8 carbohydrate sulfotransferase 8 gene DOID:630 genetic disease ISO RGD:1319067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278833 CHST8 carbohydrate sulfotransferase 8 gene DOID:9008071 Peeling Skin Syndrome 3 ISO RGD:1319067 D RGD:7240710 20180130 OMIM 12278833 CHST8 carbohydrate sulfotransferase 8 gene DOID:9008071 Peeling Skin Syndrome 3 ISO RGD:1319067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peeling skin syndrome 3 PMID:22289416|PMID:25741868|PMID:28492532 12278850 USP35 ubiquitin specific peptidase 35 gene DOID:1059 intellectual disability ISO RGD:1353275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12278850 USP35 ubiquitin specific peptidase 35 gene DOID:630 genetic disease ISO RGD:1353275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278865 MN1 MN1 proto-oncogene, transcriptional regulator gene DOID:1882 atrial heart septal defect ISO RGD:1348081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868|PMID:31834374 12278865 MN1 MN1 proto-oncogene, transcriptional regulator gene DOID:3302 chordoma ISO RGD:1348081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chordoma 12278865 MN1 MN1 proto-oncogene, transcriptional regulator gene DOID:3565 meningioma ISO RGD:1348081 D RGD:9068941 20200609 RGD DNA:translocation PMID:7731706|REF_RGD_ID:1600423 12278865 MN1 MN1 proto-oncogene, transcriptional regulator gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1348081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of hemidiaphragm PMID:25741868|PMID:31834374 12278865 MN1 MN1 proto-oncogene, transcriptional regulator gene DOID:4586 familial meningioma ISO RGD:1348081 D RGD:7240710 20230505 OMIM 12278865 MN1 MN1 proto-oncogene, transcriptional regulator gene DOID:4586 familial meningioma ISO RGD:1348081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial meningioma PMID:25741868 12278865 MN1 MN1 proto-oncogene, transcriptional regulator gene DOID:630 genetic disease ISO RGD:1348081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28135719|PMID:28330790|PMID:31834374|PMID:31839203|PMID:32790267 12278865 MN1 MN1 proto-oncogene, transcriptional regulator gene DOID:8692 myeloid leukemia ISO RGD:1348081 D RGD:9068941 20200609 RGD acute myeloid leukemia, DNA:translocation PMID:7731705|REF_RGD_ID:1600424 12278865 MN1 MN1 proto-oncogene, transcriptional regulator gene DOID:9000547 CEBALID Syndrome ISO RGD:1348081 D RGD:7240710 20200318 OMIM 12278865 MN1 MN1 proto-oncogene, transcriptional regulator gene DOID:9000547 CEBALID Syndrome ISO RGD:1348081 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: CEBALID syndrome | ClinVar Annotator: match by term: MN1 C-TERMINAL TRUNCATION SYNDROME PMID:22451504|PMID:22965664|PMID:25741868|PMID:28135719|PMID:28330790|PMID:31834374|PMID:31839203|PMID:32790267|PMID:33351070|PMID:33351141 12278865 MN1 MN1 proto-oncogene, transcriptional regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12278865 MN1 MN1 proto-oncogene, transcriptional regulator gene DOID:9119 acute myeloid leukemia ISO RGD:1348081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19822134 12278871 SULF1 sulfatase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:733350 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12278871 SULF1 sulfatase 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:733350 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30127996 12278871 SULF1 sulfatase 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:733350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 12278871 SULF1 sulfatase 1 gene DOID:630 genetic disease ISO RGD:733350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12278871 SULF1 sulfatase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733350 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17310998 12278919 GMPR guanosine monophosphate reductase gene DOID:630 genetic disease ISO RGD:733310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278919 GMPR guanosine monophosphate reductase gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12278932 G6PC2 glucose-6-phosphatase catalytic subunit 2 gene DOID:630 genetic disease ISO RGD:1344189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12278932 G6PC2 glucose-6-phosphatase catalytic subunit 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69438 D RGD:9068941 20220825 MouseDO OMIM:222100 12278940 KDM6B lysine demethylase 6B gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1316934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12278940 KDM6B lysine demethylase 6B gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1316934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12278940 KDM6B lysine demethylase 6B gene DOID:0080297 Coffin-Siris syndrome 6 ISO RGD:1316934 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 6 PMID:25741868 12278940 KDM6B lysine demethylase 6B gene DOID:1059 intellectual disability ISO RGD:1316934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12278940 KDM6B lysine demethylase 6B gene DOID:12177 common variable immunodeficiency ISO RGD:1316934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12278940 KDM6B lysine demethylase 6B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1316934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12278940 KDM6B lysine demethylase 6B gene DOID:1826 epilepsy ISO RGD:1316934 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12278940 KDM6B lysine demethylase 6B gene DOID:2729 dyskeratosis congenita ISO RGD:1316934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12278940 KDM6B lysine demethylase 6B gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1316934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12278940 KDM6B lysine demethylase 6B gene DOID:3459 breast carcinoma ISO RGD:1316934 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:23152497|REF_RGD_ID:9587818 12278940 KDM6B lysine demethylase 6B gene DOID:4450 renal cell carcinoma ISO RGD:1316934 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (human) PMID:23057811|REF_RGD_ID:9587837 12278940 KDM6B lysine demethylase 6B gene DOID:630 genetic disease ISO RGD:1316934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12278940 KDM6B lysine demethylase 6B gene DOID:9000039 Spinal Cord Injuries ISO RGD:1307629 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord (rat) PMID:22578249|REF_RGD_ID:9587821 12278940 KDM6B lysine demethylase 6B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12278940 KDM6B lysine demethylase 6B gene DOID:9007117 Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities ISO RGD:1316934 D RGD:7240710 20190821 OMIM 12278940 KDM6B lysine demethylase 6B gene DOID:9007117 Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities ISO RGD:1316934 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities PMID:25741868|PMID:28492532|PMID:31124279 12278940 KDM6B lysine demethylase 6B gene DOID:9008582 Developmental Disease ISO RGD:1316934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12278940 KDM6B lysine demethylase 6B gene DOID:962 neurofibroma ISO RGD:1316935 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:sciatic nerve (mouse) PMID:23748155|REF_RGD_ID:9587842 12278999 PCDH19 protocadherin 19 gene DOID:0060041 autism spectrum disorder ISO RGD:1354208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12278999 PCDH19 protocadherin 19 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12278999 PCDH19 protocadherin 19 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1354208 D RGD:7240710 20180130 OMIM 12278999 PCDH19 protocadherin 19 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1354208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 | ClinVar Annotator: match by term: JUBERG-HELLMAN SYNDROME PMID:16199547|PMID:17576681|PMID:18234694|PMID:18414213|PMID:18469813|PMID:19214208|PMID:19377476|PMID:19752159|PMID:20713952|PMID:21053371|PMID:21480887|PMID:21519002|PMID:21777234|PMID:22050978|PMID:22267240|PMID:22504056|PMID:2267240|PMID:22848613|PMID:22946748|PMID:22949144|PMID:23066759|PMID:23334464|PMID:23708187|PMID:23712037|PMID:23808377|PMID:25227595|PMID:25326635|PMID:25499160|PMID:25640679|PMID:25741868|PMID:25891919|PMID:26467025|PMID:26704558|PMID:26765483|PMID:26954813|PMID:26993267|PMID:27029629|PMID:27143072|PMID:27179713|PMID:27527380|PMID:27787195|PMID:27864847|PMID:27884173|PMID:28102150|PMID:28334947|PMID:28462982|PMID:28492532|PMID:28669061|PMID:28690234|PMID:28837158|PMID:29056246|PMID:29064093|PMID:29301106|PMID:29358611|PMID:29377098|PMID:29655203|PMID:29763708|PMID:29866057|PMID:29933145|PMID:29933521|PMID:30287595|PMID:30451291|PMID:30530412|PMID:30828795|PMID:30945278|PMID:31031587|PMID:31054490|PMID:31139143|PMID:31175295|PMID:31302675|PMID:31319225|PMID:31487502|PMID:31618753|PMID:31665840|PMID:31714027|PMID:31901402|PMID:32146541|PMID:32189863|PMID:32366910|PMID:32425876|PMID:33262389|PMID:34008892|PMID:34082468|PMID:5116697|PMID:9536098 12278999 PCDH19 protocadherin 19 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1354208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 12278999 PCDH19 protocadherin 19 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1354208 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 12278999 PCDH19 protocadherin 19 gene DOID:1059 intellectual disability ISO RGD:1354208 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12278999 PCDH19 protocadherin 19 gene DOID:12849 autistic disorder ISO RGD:1354208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12278999 PCDH19 protocadherin 19 gene DOID:1826 epilepsy ISO RGD:1354208 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12278999 PCDH19 protocadherin 19 gene DOID:2234 focal epilepsy ISO RGD:1354208 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868|PMID:28492532|PMID:29377098 12278999 PCDH19 protocadherin 19 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1354208 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:19214208|PMID:19752159|PMID:20713952|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 12278999 PCDH19 protocadherin 19 gene DOID:535 sleep disorder ISO RGD:1354208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sleep disturbance PMID:18414213|PMID:25741868|PMID:28492532 12278999 PCDH19 protocadherin 19 gene DOID:630 genetic disease ISO RGD:1354208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11736639|PMID:18234694|PMID:18414213|PMID:18469813|PMID:19214208|PMID:19377476|PMID:19752159|PMID:20713952|PMID:21053371|PMID:21480887|PMID:21519002|PMID:22267240|PMID:2267240|PMID:22848613|PMID:22946748|PMID:22949144|PMID:23066759|PMID:23334464|PMID:23708187|PMID:23712037|PMID:23808377|PMID:25741868|PMID:25891919|PMID:26467025|PMID:26765483|PMID:27179713|PMID:27527380|PMID:27787195|PMID:27884173|PMID:28462982|PMID:28492532|PMID:28669061|PMID:29064093|PMID:29301106|PMID:29358611|PMID:29377098|PMID:29866057|PMID:29933145|PMID:30287595|PMID:30530412|PMID:31302675|PMID:34082468 12278999 PCDH19 protocadherin 19 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1354208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868 12278999 PCDH19 protocadherin 19 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1354208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:26704558|PMID:28492532 12278999 PCDH19 protocadherin 19 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1354208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18469813 12278999 PCDH19 protocadherin 19 gene DOID:9007956 Febrile Seizures ISO RGD:1354208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex febrile seizure PMID:25741868 12278999 PCDH19 protocadherin 19 gene DOID:9008086 Developmental Disabilities ISO RGD:1354208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:18469813|PMID:21053371|PMID:22267240|PMID:22946748|PMID:23334464|PMID:25741868|PMID:27143072|PMID:27527380|PMID:28492532|PMID:5116697 12278999 PCDH19 protocadherin 19 gene DOID:9268 glycine encephalopathy ISO RGD:1354208 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:28492532 12279014 CLDN15 claudin 15 gene DOID:1790 malignant mesothelioma ISO RGD:1321720 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 12279014 CLDN15 claudin 15 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12279014 CLDN15 claudin 15 gene DOID:630 genetic disease ISO RGD:1321720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279026 RNF166 ring finger protein 166 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1351592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 12279026 RNF166 ring finger protein 166 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1351592 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12279026 RNF166 ring finger protein 166 gene DOID:14780 KBG syndrome ISO RGD:1351592 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 12279026 RNF166 ring finger protein 166 gene DOID:630 genetic disease ISO RGD:1351592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279026 RNF166 ring finger protein 166 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1351592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12279036 SPMIP10 sperm associated microtubule inner protein 10 gene DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy ISO RGD:1605198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy PMID:25741868 12279036 SPMIP10 sperm associated microtubule inner protein 10 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605198 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12279036 SPMIP10 sperm associated microtubule inner protein 10 gene DOID:630 genetic disease ISO RGD:1605198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279036 SPMIP10 sperm associated microtubule inner protein 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12279036 SPMIP10 sperm associated microtubule inner protein 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605198 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12279043 PEA15 proliferation and apoptosis adaptor protein 15 gene DOID:0060178 familial hemiplegic migraine ISO RGD:1314452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 12279043 PEA15 proliferation and apoptosis adaptor protein 15 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1314452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:28492532 12279043 PEA15 proliferation and apoptosis adaptor protein 15 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1314452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12279043 PEA15 proliferation and apoptosis adaptor protein 15 gene DOID:1540 parathyroid carcinoma ISO RGD:1314452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12279043 PEA15 proliferation and apoptosis adaptor protein 15 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12279043 PEA15 proliferation and apoptosis adaptor protein 15 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12279055 CRYZ crystallin zeta gene DOID:0060041 autism spectrum disorder ISO RGD:1323202 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12279055 CRYZ crystallin zeta gene DOID:630 genetic disease ISO RGD:1323202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279072 ST7L suppression of tumorigenicity 7 like gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1342887 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 12279072 ST7L suppression of tumorigenicity 7 like gene DOID:630 genetic disease ISO RGD:1342887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279097 TENM1 teneurin transmembrane protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12279097 TENM1 teneurin transmembrane protein 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1350445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 12279097 TENM1 teneurin transmembrane protein 1 gene DOID:12849 autistic disorder ISO RGD:1350445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12279097 TENM1 teneurin transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1350445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279097 TENM1 teneurin transmembrane protein 1 gene DOID:9003937 X Chromosome, Trisomy Xq25 ISO RGD:1350445 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Xq25 duplication syndrome 12279146 OR5J2 olfactory receptor family 5 subfamily J member 2 gene DOID:1059 intellectual disability ISO RGD:1354256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12279146 OR5J2 olfactory receptor family 5 subfamily J member 2 gene DOID:37 skin disease ISO RGD:1354256 D RGD:9068941 20201203 CTD CTD Direct Evidence: marker/mechanism PMID:28720099 12279146 OR5J2 olfactory receptor family 5 subfamily J member 2 gene DOID:630 genetic disease ISO RGD:1354256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279149 GLUD1 glutamate dehydrogenase 1 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:733213 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 12279149 GLUD1 glutamate dehydrogenase 1 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:733213 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:25741868 12279149 GLUD1 glutamate dehydrogenase 1 gene DOID:0070217 familial hyperinsulinemic hypoglycemia 6 ISO RGD:733213 D RGD:7240710 20180130 OMIM 12279149 GLUD1 glutamate dehydrogenase 1 gene DOID:0070217 familial hyperinsulinemic hypoglycemia 6 ISO RGD:733213 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome PMID:10636977|PMID:10871207|PMID:11214910|PMID:17576681|PMID:18414213|PMID:19690084|PMID:22730017|PMID:23506826|PMID:25741868|PMID:26467025|PMID:26759084|PMID:26839063|PMID:27188453|PMID:28492532|PMID:30252420|PMID:30306091|PMID:30425915|PMID:31119523|PMID:34992182|PMID:35951311|PMID:9469993|PMID:9536098|PMID:9571225|PMID:9571255|PMID:9843361 12279149 GLUD1 glutamate dehydrogenase 1 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:733213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 12279149 GLUD1 glutamate dehydrogenase 1 gene DOID:1059 intellectual disability ISO RGD:733213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12279149 GLUD1 glutamate dehydrogenase 1 gene DOID:10652 Alzheimer's disease ISO RGD:733213 D RGD:9068941 20200609 RGD protein:increased expression, decreased oxidation:brain PMID:16298240|REF_RGD_ID:6484556 12279149 GLUD1 glutamate dehydrogenase 1 gene DOID:10652 Alzheimer's disease ISO RGD:733213 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:16341942|REF_RGD_ID:6484555 12279149 GLUD1 glutamate dehydrogenase 1 gene DOID:11832 visual epilepsy ISO RGD:2708 D RGD:9068941 20200609 RGD PMID:11240587|REF_RGD_ID:6484589 12279149 GLUD1 glutamate dehydrogenase 1 gene DOID:13413 hepatic encephalopathy ISO RGD:2708 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:2903433|REF_RGD_ID:6484661 12279149 GLUD1 glutamate dehydrogenase 1 gene DOID:1825 childhood absence epilepsy ISO RGD:2708 D RGD:9068941 20200609 RGD protein:increased expression:thalamus PMID:10975907|REF_RGD_ID:6484590 12279149 GLUD1 glutamate dehydrogenase 1 gene DOID:2018 hyperinsulinism ISO RGD:733213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperinsulinism, Dominant PMID:25741868|PMID:26467025|PMID:28492532 12279149 GLUD1 glutamate dehydrogenase 1 gene DOID:2316 brain ischemia ISO RGD:2708 D RGD:9068941 20200609 RGD protein:decreased activity:brain PMID:7808037|REF_RGD_ID:6484655 12279149 GLUD1 glutamate dehydrogenase 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:2708 D RGD:9068941 20200609 RGD PMID:18381650|REF_RGD_ID:6484554 12279149 GLUD1 glutamate dehydrogenase 1 gene DOID:3613 Canavan disease ISO RGD:1551567 D RGD:9068941 20200609 RGD protein:decreased expression:cerebellum, brain stem PMID:15016427|REF_RGD_ID:6484588 12279149 GLUD1 glutamate dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:733213 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12279149 GLUD1 glutamate dehydrogenase 1 gene DOID:885 fascioliasis ISO RGD:2708 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:10431747|REF_RGD_ID:6484593 12279149 GLUD1 glutamate dehydrogenase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:733213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19500843 12279149 GLUD1 glutamate dehydrogenase 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1551567 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:spinal cord PMID:9145307|REF_RGD_ID:6484657 12279149 GLUD1 glutamate dehydrogenase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2708 D RGD:9068941 20200609 RGD protein:decreased activity:brain PMID:7808037|REF_RGD_ID:6484655 12279149 GLUD1 glutamate dehydrogenase 1 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:733213 D RGD:9068941 20200609 RGD DNA:missense mutations: : PMID:9571255|REF_RGD_ID:1302513 12279149 GLUD1 glutamate dehydrogenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733213 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:33483742 12279149 GLUD1 glutamate dehydrogenase 1 gene DOID:9008972 Hyperammonemia ISO RGD:733213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9571255 12279149 GLUD1 glutamate dehydrogenase 1 gene DOID:9351 diabetes mellitus ISO RGD:733213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 12279149 GLUD1 glutamate dehydrogenase 1 gene DOID:9993 hypoglycemia ISO RGD:733213 D RGD:9068941 20200609 RGD familial hyperinsulinemic hypoglycemia-6,OMIM:606762;DNA:point mutation:exon:E296A PMID:10636977|REF_RGD_ID:1601353 12279169 WFDC3 WAP four-disulfide core domain 3 gene DOID:2234 focal epilepsy ISO RGD:1313240 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12279169 WFDC3 WAP four-disulfide core domain 3 gene DOID:630 genetic disease ISO RGD:1313240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279169 WFDC3 WAP four-disulfide core domain 3 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12279185 PPP1R18 protein phosphatase 1 regulatory subunit 18 gene DOID:11372 megacolon ISO RGD:1319936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12279185 PPP1R18 protein phosphatase 1 regulatory subunit 18 gene DOID:630 genetic disease ISO RGD:1319936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279185 PPP1R18 protein phosphatase 1 regulatory subunit 18 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12279199 FUT11 fucosyltransferase 11 gene DOID:630 genetic disease ISO RGD:735764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279209 ERAP2 endoplasmic reticulum aminopeptidase 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605959 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12279209 ERAP2 endoplasmic reticulum aminopeptidase 2 gene DOID:0111079 birdshot chorioretinopathy ISO RGD:1605959 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36013011 12279209 ERAP2 endoplasmic reticulum aminopeptidase 2 gene DOID:3482 plague ISO RGD:1605959 D RGD:9068941 20221103 CTD CTD Direct Evidence: therapeutic PMID:36261521 12279209 ERAP2 endoplasmic reticulum aminopeptidase 2 gene DOID:630 genetic disease ISO RGD:1605959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279209 ERAP2 endoplasmic reticulum aminopeptidase 2 gene DOID:7147 ankylosing spondylitis ISO RGD:1605959 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:33550689 12279209 ERAP2 endoplasmic reticulum aminopeptidase 2 gene DOID:8778 Crohn's disease ISO RGD:1605959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 12279209 ERAP2 endoplasmic reticulum aminopeptidase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12279209 ERAP2 endoplasmic reticulum aminopeptidase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605959 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12279332 PLA2G15 phospholipase A2 group XV gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1344350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12279332 PLA2G15 phospholipase A2 group XV gene DOID:0080600 COVID-19 ISO RGD:1344350 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12279332 PLA2G15 phospholipase A2 group XV gene DOID:2349 arteriosclerosis ISO RGD:1552207 D RGD:9068941 20200609 RGD PMID:15781238|REF_RGD_ID:1582126 12279332 PLA2G15 phospholipase A2 group XV gene DOID:630 genetic disease ISO RGD:1344350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279347 CAMKMT calmodulin-lysine N-methyltransferase gene DOID:0060858 hypotonia-cystinuria syndrome ISO RGD:1332422 D RGD:9068941 20220825 MouseDO OMIM:606407 12279347 CAMKMT calmodulin-lysine N-methyltransferase gene DOID:0060858 hypotonia-cystinuria syndrome ISO RGD:1605634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 12279347 CAMKMT calmodulin-lysine N-methyltransferase gene DOID:3883 Lynch syndrome ISO RGD:1605634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12279347 CAMKMT calmodulin-lysine N-methyltransferase gene DOID:630 genetic disease ISO RGD:1605634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279347 CAMKMT calmodulin-lysine N-methyltransferase gene DOID:699 mitochondrial myopathy ISO RGD:1605634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 12279347 CAMKMT calmodulin-lysine N-methyltransferase gene DOID:8927 learning disability ISO RGD:1605634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 12279347 CAMKMT calmodulin-lysine N-methyltransferase gene DOID:9005532 Muscle Weakness ISO RGD:1605634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 12279347 CAMKMT calmodulin-lysine N-methyltransferase gene DOID:9008086 Developmental Disabilities ISO RGD:1605634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 12279347 CAMKMT calmodulin-lysine N-methyltransferase gene DOID:9923 developmental coordination disorder ISO RGD:1605634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 12279378 CAPZA1 capping actin protein of muscle Z-line subunit alpha 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1314786 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 12279378 CAPZA1 capping actin protein of muscle Z-line subunit alpha 1 gene DOID:13938 amenorrhea ISO RGD:1314786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12279378 CAPZA1 capping actin protein of muscle Z-line subunit alpha 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1314786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12279378 CAPZA1 capping actin protein of muscle Z-line subunit alpha 1 gene DOID:630 genetic disease ISO RGD:1314786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1323005 D RGD:9068941 20221020 RGD mRNA:decreased expression:colorectum (human) PMID:22966016|REF_RGD_ID:155598682 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0060058 lymphoma susceptibility ISO RGD:1622854 D RGD:9068941 20200609 RGD PMID:11238917|REF_RGD_ID:11567233 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0060240 UV-sensitive syndrome ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26972010 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080199 colorectal carcinoma treatment ISO RGD:1323005 D RGD:9068941 20221006 RGD human cell line in a mouse model PMID:28665687|REF_RGD_ID:155260341 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080868 primary ovarian insufficiency 11 ISO RGD:1323005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 11 PMID:10196384|PMID:10767341|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:21143350|PMID:21228398|PMID:22661500|PMID:22904069|PMID:23311583|PMID:24154677|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:26218421|PMID:27004399|PMID:27186691|PMID:27356891|PMID:28492532|PMID:29572252|PMID:30111349|PMID:9443879 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080868 primary ovarian insufficiency 11 susceptibility ISO RGD:1323005 D RGD:7240710 20230517 OMIM 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1323005 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:28492532 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080908 Cockayne syndrome B ISO RGD:1323005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cockayne Syndrome, Type II | ClinVar Annotator: match by term: Cockayne syndrome B PMID:10196384|PMID:10767341|PMID:11809892|PMID:1339317|PMID:15486090|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18446857|PMID:18628313|PMID:18784753|PMID:19894250|PMID:20122405|PMID:20456449|PMID:21143350|PMID:21228398|PMID:22466610|PMID:22483866|PMID:22661500|PMID:22904069|PMID:23311583|PMID:23422418|PMID:23428416|PMID:24033266|PMID:24154677|PMID:25136123|PMID:25251875|PMID:25326635|PMID:25741868|PMID:25820262|PMID:26206375|PMID:27004399|PMID:27356891|PMID:28170084|PMID:28440418|PMID:28492532|PMID:29203878|PMID:29572252|PMID:29915382|PMID:30111349|PMID:30842647|PMID:31130284|PMID:31501894|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:32860008|PMID:7063265|PMID:7264357|PMID:887325|PMID:9150142|PMID:9443879|PMID:9536098|PMID:9777763 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080908 Cockayne syndrome B susceptibility ISO RGD:1323005 D RGD:7240710 20230517 OMIM 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080910 cerebrooculofacioskeletal syndrome ISO RGD:1323005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COFS syndrome | ClinVar Annotator: match by term: Cerebrooculofacioskeletal Syndrome PMID:18414213|PMID:25741868|PMID:28492532 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080911 cerebrooculofacioskeletal syndrome 1 ISO RGD:1323005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1 | ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 | ClinVar Annotator: match by term: PENA-SHOKEIR SYNDROME, TYPE II PMID:10196384|PMID:10739753|PMID:10767341|PMID:11809892|PMID:1339317|PMID:17576681|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:20122405|PMID:20456449|PMID:21143350|PMID:21228398|PMID:22661500|PMID:22904069|PMID:23311583|PMID:23422418|PMID:23428416|PMID:24033266|PMID:24154677|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:26206375|PMID:27004399|PMID:27356891|PMID:28170084|PMID:28440418|PMID:28492532|PMID:29203878|PMID:29572252|PMID:29915382|PMID:30111349|PMID:31130284|PMID:31501894|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:7063265|PMID:887325|PMID:9150142|PMID:9443879|PMID:9536098 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080911 cerebrooculofacioskeletal syndrome 1 susceptibility ISO RGD:1323005 D RGD:7240710 20230517 OMIM 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0110028 age related macular degeneration 5 ISO RGD:1323005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 5 PMID:10196384|PMID:10767341|PMID:16754848|PMID:17576681|PMID:17854076|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:21143350|PMID:21228398|PMID:22661500|PMID:22904069|PMID:23311583|PMID:23422418|PMID:24154677|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29572252|PMID:30111349|PMID:9443879|PMID:9536098 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0110028 age related macular degeneration 5 susceptibility ISO RGD:1323005 D RGD:7240710 20230517 OMIM 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0112158 De Sanctis-Cacchione syndrome ISO RGD:1323005 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME PMID:10196384|PMID:10767341|PMID:11809892|PMID:1339317|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:20122405|PMID:20456449|PMID:21143350|PMID:21228398|PMID:22661500|PMID:22904069|PMID:23311583|PMID:23422418|PMID:23428416|PMID:24033266|PMID:24154677|PMID:25136123|PMID:25326635|PMID:25356239|PMID:25463447|PMID:25677497|PMID:25741868|PMID:25820262|PMID:26206375|PMID:26218421|PMID:26620705|PMID:27004399|PMID:27186691|PMID:27356891|PMID:28170084|PMID:28440418|PMID:28492532|PMID:29203878|PMID:29572252|PMID:29915382|PMID:30111349|PMID:31130284|PMID:31501894|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:34005834|PMID:7063265|PMID:887325|PMID:9150142|PMID:9443879|PMID:9536098 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0112158 De Sanctis-Cacchione syndrome susceptibility ISO RGD:1323005 D RGD:7240710 20230517 OMIM 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10003 sensorineural hearing loss ISO RGD:1622854 D RGD:9068941 20200609 RGD PMID:25762674|REF_RGD_ID:11567237 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10534 stomach cancer exacerbates ISO RGD:1323005 D RGD:9068941 20221006 RGD DNA:SNP:enhancer: (rs1917799) (human) PMID:27340861|REF_RGD_ID:155260339 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10534 stomach cancer exacerbates ISO RGD:1323005 D RGD:9068941 20221006 RGD mRNA:increased expression:stomach (human) PMID:30417012|REF_RGD_ID:155260342 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10629 microphthalmia ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10739753 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10907 microcephaly ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10739753|PMID:18628313 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:11372 megacolon ISO RGD:1323005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer ISO RGD:1323005 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: LUNG CANCER, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic PMID:10767341|PMID:16754848|PMID:17854076|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:22661500|PMID:22904069|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29572252|PMID:30111349|PMID:9443879 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer disease_progression ISO RGD:1323005 D RGD:9068941 20200609 RGD DNA:SNPs: :p.G399D, p.Q1413R (human) PMID:17855454|REF_RGD_ID:11567235 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer no_association ISO RGD:1323005 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:18789574|REF_RGD_ID:11567231 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer susceptibility ISO RGD:1323005 D RGD:9068941 20200609 RGD DNA:point mutation:promoter::c.-6530C>G (rs3793784) (human) PMID:17854076|REF_RGD_ID:11561791 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer susceptibility ISO RGD:1323005 D RGD:9068941 20221006 RGD mRNA:decreased expression:lung (human) PMID:10910954|REF_RGD_ID:155260338 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:14184 polyneuropathy due to drug treatment ISO RGD:1323005 D RGD:9068941 20221006 RGD associated with colorectal cancer;DNA:missense mutations:CDS:p.D425A, p.G446D, p.S797C (rs4253046, rs4253047, rs146043988) (human) PMID:35135151|REF_RGD_ID:155260345 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:14261 fragile X syndrome ISO RGD:1622854 D RGD:9068941 20200609 RGD PMID:24352881|REF_RGD_ID:10401097 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1749 squamous cell carcinoma severity ISO RGD:1622854 D RGD:9068941 20200609 RGD associated with Cockayne Syndrome PMID:9150142|REF_RGD_ID:10401099 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:224 transient cerebral ischemia ISO RGD:1311509 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:10437118|REF_RGD_ID:10401104 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:2596 larynx cancer susceptibility ISO RGD:1323005 D RGD:9068941 20221006 RGD DNA:missense mutation:CDS:p.R1230P (human) PMID:19444904|REF_RGD_ID:155260337 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:2962 Cockayne syndrome ISO RGD:1323005 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism PMID:16199547|PMID:18414213|PMID:18628313|PMID:19894250|PMID:20122405|PMID:21228398|PMID:25326635|PMID:25741868|PMID:25820262|PMID:26206375|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29203878|PMID:29572252|PMID:29915382|PMID:29955172|PMID:30111349|PMID:31130284|PMID:31501894|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:9443879 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3355 fibrosarcoma susceptibility ISO RGD:1622854 D RGD:9068941 20200609 RGD PMID:11238917|REF_RGD_ID:11567233 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3525 middle cerebral artery infarction ISO RGD:1311509 D RGD:9068941 20200609 RGD PMID:9974119|REF_RGD_ID:10401103 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3905 lung carcinoma ISO RGD:1323005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:10196384|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:21143350|PMID:23311583|PMID:24154677|PMID:25741868|PMID:28492532|PMID:29572252|PMID:9443879 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3907 lung squamous cell carcinoma ISO RGD:1323005 D RGD:9068941 20221006 RGD mRNA, protein:increased expression:lung (human) PMID:31615563|REF_RGD_ID:155260344 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1323005 D RGD:9068941 20221006 RGD DNA:SNP:intron: (rs4253002) (human) PMID:28924235|REF_RGD_ID:153323316 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3910 lung adenocarcinoma ISO RGD:1323005 D RGD:9068941 20221006 RGD mRNA, protein:increased expression:lung (human) PMID:31615563|REF_RGD_ID:155260344 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:4448 macular degeneration ISO RGD:1323005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:18414213|PMID:25741868|PMID:28492532 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:4448 macular degeneration onset ISO RGD:1323005 D RGD:9068941 20200609 RGD PMID:21072178|REF_RGD_ID:10401096 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:5419 schizophrenia ISO RGD:1323005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1323005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:630 genetic disease ISO RGD:1323005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:18414213|PMID:18628313|PMID:19894250|PMID:20456449|PMID:23311583|PMID:23428416|PMID:25251875|PMID:25741868|PMID:27004399|PMID:28440418|PMID:28492532|PMID:29572252|PMID:7063265|PMID:9443879 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:83 cataract ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9002350 Hereditary Hemorrhagic Telangiectasia, Type 1 ISO RGD:1323005 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 PMID:25741868|PMID:28492532 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9002644 Premature Aging ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25440059 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:1323005 D RGD:9068941 20221006 RGD associated with lung non-small cell carcinoma;DNA:SNP:intron: (rs4253212) (human) PMID:28924235|REF_RGD_ID:153323316 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9004538 Hearing Loss ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25440059 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9005172 Lung Neoplasms ISO RGD:1323005 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:17854076 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:1323005 D RGD:7240710 20230517 OMIM 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9006257 Growth Disorders ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9006274 UV-Sensitive Syndrome 1 ISO RGD:1323005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: UV-SENSITIVE SYNDROME 1 | ClinVar Annotator: match by term: UV-sensitive syndrome 1 PMID:10196384|PMID:10767341|PMID:15486090|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:21143350|PMID:21228398|PMID:22466610|PMID:22483866|PMID:22661500|PMID:22904069|PMID:23311583|PMID:24154677|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29572252|PMID:30111349|PMID:7264357|PMID:9443879|PMID:9777763 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9006274 UV-Sensitive Syndrome 1 susceptibility ISO RGD:1323005 D RGD:7240710 20230517 OMIM 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9008514 Psychomotor Disorders ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9256 colorectal cancer ISO RGD:1323005 D RGD:9068941 20221006 RGD DNA:SNP:exon: (rs2228526) (human) PMID:29151331|REF_RGD_ID:155260348 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9256 colorectal cancer ISO RGD:1323005 D RGD:9068941 20221006 RGD mRNA:increased expression:colorectum (human) PMID:16951227|REF_RGD_ID:155260343 12279392 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9256 colorectal cancer susceptibility ISO RGD:1323005 D RGD:9068941 20221006 RGD DNA:missense mutation:CDS:p.R1213G (human) PMID:17119055|REF_RGD_ID:155260340 12279418 SLC25A33 solute carrier family 25 member 33 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12279418 SLC25A33 solute carrier family 25 member 33 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604265 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12279418 SLC25A33 solute carrier family 25 member 33 gene DOID:630 genetic disease ISO RGD:1604265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279418 SLC25A33 solute carrier family 25 member 33 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12279429 EPHX1 epoxide hydrolase 1 gene DOID:0014667 disease of metabolism ISO RGD:736560 D RGD:9068941 20200609 RGD familial hypercholanemia,OMIM:607748;DNA:point mutations:promoter, intron PMID:12878321|REF_RGD_ID:1601066 12279429 EPHX1 epoxide hydrolase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736560 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12279429 EPHX1 epoxide hydrolase 1 gene DOID:0060058 lymphoma ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11406608 12279429 EPHX1 epoxide hydrolase 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11406608 12279429 EPHX1 epoxide hydrolase 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:11406608|REF_RGD_ID:1601063 12279429 EPHX1 epoxide hydrolase 1 gene DOID:0080001 bone disease ISO RGD:736560 D RGD:9068941 20200609 RGD associated with Multiple Myeloma;DNA:SNP PMID:19657367|REF_RGD_ID:11252112 12279429 EPHX1 epoxide hydrolase 1 gene DOID:10320 asbestosis susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.Y113H (rs1051740) (human) PMID:17159790|REF_RGD_ID:4889408 12279429 EPHX1 epoxide hydrolase 1 gene DOID:10591 pre-eclampsia ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11283205|PMID:12173035 12279429 EPHX1 epoxide hydrolase 1 gene DOID:10591 pre-eclampsia ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:11283205|REF_RGD_ID:1601064 12279429 EPHX1 epoxide hydrolase 1 gene DOID:10652 Alzheimer's disease ISO RGD:736560 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:16630050|REF_RGD_ID:5688388 12279429 EPHX1 epoxide hydrolase 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs PMID:19252927|REF_RGD_ID:2315930 12279429 EPHX1 epoxide hydrolase 1 gene DOID:1227 neutropenia ISO RGD:736560 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 12279429 EPHX1 epoxide hydrolase 1 gene DOID:12449 aplastic anemia disease_progression ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human) PMID:26999617|REF_RGD_ID:11252120 12279429 EPHX1 epoxide hydrolase 1 gene DOID:12449 aplastic anemia susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.H139R (human) PMID:21228718|REF_RGD_ID:11252118 12279429 EPHX1 epoxide hydrolase 1 gene DOID:14330 Parkinson's disease ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.Y113H (human) PMID:10720475|REF_RGD_ID:5490167 12279429 EPHX1 epoxide hydrolase 1 gene DOID:14330 Parkinson's disease no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:missense mutations:exons:p.Y113H (499T>C), p.H139R (578A>G) (human) PMID:11692079|REF_RGD_ID:5688390 12279429 EPHX1 epoxide hydrolase 1 gene DOID:1485 cystic fibrosis ISO RGD:736560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucoviscidosis PMID:12704386|PMID:17532303|PMID:19017876|PMID:23426996|PMID:7516776|PMID:9288046 12279429 EPHX1 epoxide hydrolase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:736560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12279429 EPHX1 epoxide hydrolase 1 gene DOID:1579 respiratory system disease ISO RGD:736560 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:14593914|REF_RGD_ID:4889126 12279429 EPHX1 epoxide hydrolase 1 gene DOID:1790 malignant mesothelioma ISO RGD:736560 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:16697254 12279429 EPHX1 epoxide hydrolase 1 gene DOID:2355 anemia treatment ISO RGD:736560 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms PMID:24533712|REF_RGD_ID:11097078 12279429 EPHX1 epoxide hydrolase 1 gene DOID:2841 asthma susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human) PMID:17711870|REF_RGD_ID:4889407 12279429 EPHX1 epoxide hydrolase 1 gene DOID:305 carcinoma ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12279429 EPHX1 epoxide hydrolase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9288046 12279429 EPHX1 epoxide hydrolase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:9288046|REF_RGD_ID:1601065 12279429 EPHX1 epoxide hydrolase 1 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.H139R (rs2234922) (human) PMID:20932192|REF_RGD_ID:4889120 12279429 EPHX1 epoxide hydrolase 1 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18614560|REF_RGD_ID:4889122 12279429 EPHX1 epoxide hydrolase 1 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human) PMID:17564249|REF_RGD_ID:4889123 12279429 EPHX1 epoxide hydrolase 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human) PMID:18811882|REF_RGD_ID:4889121 12279429 EPHX1 epoxide hydrolase 1 gene DOID:3602 toxic encephalopathy susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.H139R (human) PMID:17022435|REF_RGD_ID:5490249 12279429 EPHX1 epoxide hydrolase 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:736560 D RGD:9068941 20200609 RGD PMID:17273734|REF_RGD_ID:4889124 12279429 EPHX1 epoxide hydrolase 1 gene DOID:5022 aflatoxins-related hepatocellular carcinoma ISO RGD:2557 D RGD:9068941 20220707 RGD associated with estrogen excess;protein:increased activity;liver (rat) PMID:6133380|REF_RGD_ID:152998935 12279429 EPHX1 epoxide hydrolase 1 gene DOID:630 genetic disease ISO RGD:736560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279429 EPHX1 epoxide hydrolase 1 gene DOID:670 amphetamine abuse ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19598248 12279429 EPHX1 epoxide hydrolase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7892276 12279429 EPHX1 epoxide hydrolase 1 gene DOID:705 Leber hereditary optic neuropathy onset ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Y113H (human) PMID:15838728|REF_RGD_ID:5688732 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9000972 Fever ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31422080 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2557 D RGD:9068941 20200609 RGD PMID:7260898|REF_RGD_ID:11252158 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17919073|PMID:21716162|PMID:24763052 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9003566 Mesothelioma ISO RGD:736560 D RGD:9068941 20200609 RGD PMID:16697254|REF_RGD_ID:4889125 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9004464 Skin Neoplasms ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26295053 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9004610 Acute Lung Injury ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26840748 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17114358|PMID:17311802 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9005961 Familial Hypercholanemia 1 ISO RGD:736560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial 1 PMID:25326635|PMID:25741868 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22156006 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29298899 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9007118 Familial Hypercholanemia ISO RGD:736560 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:12878321 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9007828 Abnormalities, Drug-Induced ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2336087 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29605894 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:p.Y113H, p.H139R (human) PMID:11849215|REF_RGD_ID:11252119 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9119 acute myeloid leukemia no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs:exon:rs1051740, rs2234922 (human) PMID:22200898|REF_RGD_ID:11252114 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9119 acute myeloid leukemia no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:20731606|REF_RGD_ID:11252115 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9538 multiple myeloma ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16949155 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9538 multiple myeloma no_association ISO RGD:736560 D RGD:9068941 20200609 RGD PMID:19736056|REF_RGD_ID:11252116 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9538 multiple myeloma no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs2234922 (human) PMID:24521996|REF_RGD_ID:11252122 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9538 multiple myeloma susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human) PMID:16949155|REF_RGD_ID:11252121 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9675 pulmonary emphysema ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9288046 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9675 pulmonary emphysema ISO RGD:736560 D RGD:9068941 20200609 RGD PMID:12579334|REF_RGD_ID:4889405 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9675 pulmonary emphysema ISO RGD:736560 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive;DNA:SNPs (human) PMID:20525719|REF_RGD_ID:4140935 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9675 pulmonary emphysema no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human) PMID:10853854|REF_RGD_ID:4889406 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9675 pulmonary emphysema susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.Y113H (rs1051740) (human) PMID:9288046|REF_RGD_ID:1601065 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983886 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs:exon:rs1051740, rs2234922 (human) PMID:22200898|REF_RGD_ID:11252114 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype:exon:p.H139R (human) PMID:21983886|REF_RGD_ID:11252110 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD PMID:19593802|REF_RGD_ID:11252111 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype:exon:p.Y113H (human) PMID:21983886|REF_RGD_ID:11252110 12279429 EPHX1 epoxide hydrolase 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:polymorphisms:exon PMID:22930568|REF_RGD_ID:11252113 12279442 ZFYVE21 zinc finger FYVE-type containing 21 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1322277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12279442 ZFYVE21 zinc finger FYVE-type containing 21 gene DOID:630 genetic disease ISO RGD:1322277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279460 TLX2 T cell leukemia homeobox 2 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1320082 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12279460 TLX2 T cell leukemia homeobox 2 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1320083 D RGD:9068941 20220825 MouseDO OMIM:243180 | OMIM:601223 12279460 TLX2 T cell leukemia homeobox 2 gene DOID:543 dystonia ISO RGD:1320082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12279460 TLX2 T cell leukemia homeobox 2 gene DOID:630 genetic disease ISO RGD:1320082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279460 TLX2 T cell leukemia homeobox 2 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1320082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12279467 MRPL49 mitochondrial ribosomal protein L49 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1320522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12279467 MRPL49 mitochondrial ribosomal protein L49 gene DOID:1059 intellectual disability ISO RGD:1320522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12279467 MRPL49 mitochondrial ribosomal protein L49 gene DOID:1909 melanoma ISO RGD:1320522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12279467 MRPL49 mitochondrial ribosomal protein L49 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1320522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12279467 MRPL49 mitochondrial ribosomal protein L49 gene DOID:2746 glycogen storage disease V ISO RGD:1320522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12279467 MRPL49 mitochondrial ribosomal protein L49 gene DOID:3070 high grade glioma ISO RGD:1320522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12279467 MRPL49 mitochondrial ribosomal protein L49 gene DOID:630 genetic disease ISO RGD:1320522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279475 ZNHIT2 zinc finger HIT-type containing 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1348570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12279475 ZNHIT2 zinc finger HIT-type containing 2 gene DOID:1059 intellectual disability ISO RGD:1348570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12279475 ZNHIT2 zinc finger HIT-type containing 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1348570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12279475 ZNHIT2 zinc finger HIT-type containing 2 gene DOID:2746 glycogen storage disease V ISO RGD:1348570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12279475 ZNHIT2 zinc finger HIT-type containing 2 gene DOID:3070 high grade glioma ISO RGD:1348570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12279475 ZNHIT2 zinc finger HIT-type containing 2 gene DOID:630 genetic disease ISO RGD:1348570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279480 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:10652 Alzheimer's disease ISO RGD:1321122 D RGD:9068941 20220825 MouseDO OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 12279480 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:10763 hypertension ISO RGD:1321122 D RGD:9068941 20200609 RGD PMID:21810655|REF_RGD_ID:8693428 12279480 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:12466 secondary hyperparathyroidism ISO RGD:1310299 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:19770516|REF_RGD_ID:8693427 12279480 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:12849 autistic disorder ISO RGD:1321121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12279480 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:2841 asthma ISO RGD:1310299 D RGD:9068941 20200609 RGD PMID:18188456|REF_RGD_ID:8693422 12279480 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:2841 asthma ISO RGD:1321122 D RGD:9068941 20200609 RGD PMID:18188456|REF_RGD_ID:8693422 12279480 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:630 genetic disease ISO RGD:1321121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279480 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:9000918 Disease Progression ISO RGD:1321121 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32621833 12279480 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:9002514 Neointima ISO RGD:1321122 D RGD:9068941 20200609 RGD PMID:20307651|REF_RGD_ID:8693429 12279480 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:9003936 Cardiomegaly ISO RGD:1321122 D RGD:9068941 20200609 RGD PMID:23487407|REF_RGD_ID:8693424 12279480 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:9004283 Transplant Rejection ISO RGD:1310299 D RGD:9068941 20200609 RGD PMID:17311089|REF_RGD_ID:8693431 12279480 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1310299 D RGD:9068941 20200609 RGD PMID:22064478|REF_RGD_ID:8693420 12279480 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1321121 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:19671742|PMID:19681904|PMID:32621833 12279488 CCKBR cholecystokinin B receptor gene DOID:0060001 withdrawal disorder ISO RGD:735565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11880531|PMID:9496717 12279488 CCKBR cholecystokinin B receptor gene DOID:0060180 colitis ISO RGD:2290 D RGD:9068941 20200609 RGD PMID:15102523|REF_RGD_ID:2311333 12279488 CCKBR cholecystokinin B receptor gene DOID:10933 obsessive-compulsive disorder ISO RGD:735565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8878350 12279488 CCKBR cholecystokinin B receptor gene DOID:14115 toxic shock syndrome ISO RGD:2290 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium PMID:15948246|REF_RGD_ID:2311332 12279488 CCKBR cholecystokinin B receptor gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12279488 CCKBR cholecystokinin B receptor gene DOID:1793 pancreatic cancer ISO RGD:2290 D RGD:9068941 20200609 RGD PMID:1458479|REF_RGD_ID:4110821 12279488 CCKBR cholecystokinin B receptor gene DOID:1793 pancreatic cancer ISO RGD:2290 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:8222074|REF_RGD_ID:4110822 12279488 CCKBR cholecystokinin B receptor gene DOID:1793 pancreatic cancer disease_progression ISO RGD:2290 D RGD:9068941 20200609 RGD PMID:8302799|REF_RGD_ID:4110823 12279488 CCKBR cholecystokinin B receptor gene DOID:1793 pancreatic cancer susceptibility ISO RGD:735565 D RGD:9068941 20200609 RGD PMID:15688412|REF_RGD_ID:4110829 12279488 CCKBR cholecystokinin B receptor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:735565 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:12851875|REF_RGD_ID:4110816 12279488 CCKBR cholecystokinin B receptor gene DOID:594 panic disorder ISO RGD:735565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8878350 12279488 CCKBR cholecystokinin B receptor gene DOID:594 panic disorder ISO RGD:735565 D RGD:9068941 20200609 RGD PMID:15354400|REF_RGD_ID:1358454 12279488 CCKBR cholecystokinin B receptor gene DOID:630 genetic disease ISO RGD:735565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279488 CCKBR cholecystokinin B receptor gene DOID:9000641 Pain ISO RGD:2290 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16527403|REF_RGD_ID:2311323 12279488 CCKBR cholecystokinin B receptor gene DOID:9002211 Hyperalgesia ISO RGD:2290 D RGD:9068941 20200609 RGD PMID:15647484|REF_RGD_ID:1626108 12279488 CCKBR cholecystokinin B receptor gene DOID:9002211 Hyperalgesia ISO RGD:735565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11880531 12279488 CCKBR cholecystokinin B receptor gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9922984 12279488 CCKBR cholecystokinin B receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2290 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:pancreas PMID:15161757|REF_RGD_ID:1358452 12279493 HOXC10 homeobox C10 gene DOID:630 genetic disease ISO RGD:1316332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279493 HOXC10 homeobox C10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12279493 HOXC10 homeobox C10 gene DOID:9004998 Kyphoscoliosis ISO RGD:1307250 D RGD:9068941 20200609 RGD mRNA:decreased expression:verterbra PMID:18327665|REF_RGD_ID:11354896 12279499 LOC487173 protocadherin beta-6 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1321102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12279499 LOC487173 protocadherin beta-6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321102 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12279499 LOC487173 protocadherin beta-6 gene DOID:630 genetic disease ISO RGD:1321102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279499 LOC487173 protocadherin beta-6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12279499 LOC487173 protocadherin beta-6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321102 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12279504 RNF186 ring finger protein 186 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1601756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12279504 RNF186 ring finger protein 186 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1601756 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12279504 RNF186 ring finger protein 186 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1601756 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12279504 RNF186 ring finger protein 186 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1601756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12279504 RNF186 ring finger protein 186 gene DOID:630 genetic disease ISO RGD:1601756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279504 RNF186 ring finger protein 186 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1601756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12279509 SELENOM selenoprotein M gene DOID:630 genetic disease ISO RGD:1603181 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279509 SELENOM selenoprotein M gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12279518 TOMM20 translocase of outer mitochondrial membrane 20 gene DOID:1540 parathyroid carcinoma ISO RGD:735635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12279518 TOMM20 translocase of outer mitochondrial membrane 20 gene DOID:630 genetic disease ISO RGD:735635 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279518 TOMM20 translocase of outer mitochondrial membrane 20 gene DOID:767 muscular atrophy ISO RGD:708467 D RGD:9068941 20200609 RGD PMID:20943961|REF_RGD_ID:13463487 12279518 TOMM20 translocase of outer mitochondrial membrane 20 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12279527 TTC39A tetratricopeptide repeat domain 39A gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1322418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 12279527 TTC39A tetratricopeptide repeat domain 39A gene DOID:630 genetic disease ISO RGD:1322418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279527 TTC39A tetratricopeptide repeat domain 39A gene DOID:9007188 Liver Neoplasms ISO RGD:1322418 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17114358 12279558 DHRS13 dehydrogenase/reductase 13 gene DOID:630 genetic disease ISO RGD:1603266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:20203246|REF_RGD_ID:5135461 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNPs: :3050G>C, 8473C>T (human) PMID:21319594|REF_RGD_ID:5135280 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:731006 D RGD:9068941 20200609 RGD protein:decreased expression:lung: PMID:14511257|REF_RGD_ID:5135507 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0050424 familial adenomatous polyposis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17942926 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11820457 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0050700 cardiomyopathy ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11978490 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0050848 obstructive sleep apnea ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell PMID:18413499|REF_RGD_ID:4891909 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151359|PMID:19522023 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:breast PMID:18199541|REF_RGD_ID:2300203 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:18237383|REF_RGD_ID:2300199 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0060180 colitis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11820457 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0060180 colitis treatment ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17543437|REF_RGD_ID:2298659 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0060903 thrombosis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20350286 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:26723251|REF_RGD_ID:11086779 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0080322 polycystic kidney disease ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17537981|REF_RGD_ID:2300262 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0080600 COVID-19 ISO RGD:731006 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0080820 occupational asthma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25721048 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481|PMID:20485159 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:mast cell PMID:9487340|REF_RGD_ID:5143936 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0080855 Parkinsonism ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:16781689|REF_RGD_ID:5688269 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0080855 Parkinsonism ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:21376018|REF_RGD_ID:5508224 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0080855 Parkinsonism ISO RGD:731007 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:neostriatum PMID:15306248|REF_RGD_ID:5688225 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0081120 Graves ophthalmopathy ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17614770 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:0081292 traumatic brain injury ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28642177 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:10247 pleurisy ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:15740981|PMID:20141620|REF_RGD_ID:4142808|REF_RGD_ID:5143929 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:10283 prostate cancer susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1195G>A (human) PMID:26788504|REF_RGD_ID:11554936 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:10652 Alzheimer's disease ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21701788|REF_RGD_ID:5688147 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:10652 Alzheimer's disease ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:9740394|REF_RGD_ID:5688252 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:10652 Alzheimer's disease ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA:decreased expression:neocortex, hippocampus PMID:8892355|REF_RGD_ID:5688254 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1067 open-angle glaucoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16330497 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:10762 portal hypertension ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17876871|REF_RGD_ID:1642587 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:10763 hypertension ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:15775781|PMID:16467505|REF_RGD_ID:1580671|REF_RGD_ID:1581285 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:10763 hypertension ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14757778|PMID:15834289|PMID:20667508|PMID:22349312 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:10808 gastric ulcer ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17673547|REF_RGD_ID:2300260 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:10808 gastric ulcer ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10594344|PMID:11376495|PMID:12481160|PMID:19066340|PMID:9024292 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:10808 gastric ulcer ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:17673547|REF_RGD_ID:2300260 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:11054 urinary bladder cancer ISO RGD:731006 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:10582676|PMID:10873095|PMID:12442003|PMID:12664575|PMID:16098373|PMID:17093206|PMID:29396848|PMID:36115647 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:11054 urinary bladder cancer ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:18222600|REF_RGD_ID:2300200 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:21255800|REF_RGD_ID:5508302 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:837T>C (human) PMID:18381966|REF_RGD_ID:2300127 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:11088 asphyxia neonatorum ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963755 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:11111 hydronephrosis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22430074 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:11132 prostatic hypertrophy ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:25546515|REF_RGD_ID:11566048 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:11335 sarcoidosis ISO RGD:731006 D RGD:9068941 20200609 RGD protein:decreased expression:lung: PMID:14511257|REF_RGD_ID:5135507 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:11335 sarcoidosis susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNP: :8473 T > C (human) PMID:19042116|REF_RGD_ID:5135505 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:11383 cryptorchidism ISO RGD:731007 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:testis PMID:22777528|REF_RGD_ID:11567213 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:118 pericardial effusion ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20801906 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:11832 visual epilepsy ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17827730|REF_RGD_ID:1642596 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1184 nephrotic syndrome ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:19194550|REF_RGD_ID:2317535 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:neuron PMID:12663931|REF_RGD_ID:5688237 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:11963 esophagitis ISO RGD:731006 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung; PMID:20811626|REF_RGD_ID:5131286 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:12466 secondary hyperparathyroidism ISO RGD:620349 D RGD:9068941 20200609 RGD associated with Uremia PMID:21335517|REF_RGD_ID:5135046 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:12466 secondary hyperparathyroidism ISO RGD:731006 D RGD:9068941 20200609 RGD associated with kidney failure, chronic: protein:increased expression:parathyroid gland PMID:21335517|REF_RGD_ID:5135046 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:12849 autistic disorder ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18579107 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:12858 Huntington's disease ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21362433|REF_RGD_ID:5508227 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1287 cardiovascular system disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17518513 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1287 cardiovascular system disease ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:21843325|REF_RGD_ID:5508196 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1324 lung cancer ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21303331|REF_RGD_ID:5135048 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:13948 bladder neck obstruction ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15311063 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:14566 disease of cellular proliferation ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20155627 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:14654 prostatitis ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18554636|REF_RGD_ID:5135220 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1485 cystic fibrosis ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNPs: :-765G>C and 8473T>C (human) PMID:20720307|REF_RGD_ID:5135298 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1485 cystic fibrosis ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa PMID:18711055|REF_RGD_ID:5135523 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:731006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1561 cognitive disorder ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12410334 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1596 depressive disorder ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19356723 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1679 cystitis ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:20602232|REF_RGD_ID:5135058 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1724 duodenal ulcer ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12481160 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16543248|PMID:18202791 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1793 pancreatic cancer ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10485483|PMID:10657949|PMID:15705899|PMID:16820089 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1793 pancreatic cancer ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:20216081|REF_RGD_ID:2317175 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1793 pancreatic cancer ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:19820419|REF_RGD_ID:2317179 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNPs: :-1195A > G, -765G > C (human) PMID:19062735|REF_RGD_ID:5135527 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-1195A>A ,-765G>C (human) PMID:19422084|REF_RGD_ID:2317184 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1824 status epilepticus ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:20643531|REF_RGD_ID:5135057 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1824 status epilepticus ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988310 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1909 melanoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863|PMID:17499752|PMID:18454317 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1936 atherosclerosis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20720404 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:1967 leiomyosarcoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645019 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2154 nephroblastoma ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:16945639|REF_RGD_ID:2300206 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2316 brain ischemia ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:12535784|REF_RGD_ID:1581286 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2316 brain ischemia ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:21718970|REF_RGD_ID:6480433 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2316 brain ischemia ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15737438|PMID:17394460|PMID:17564305|PMID:19417757 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2316 brain ischemia ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:11158633|REF_RGD_ID:5688292 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2349 arteriosclerosis ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:16458279|REF_RGD_ID:1581287 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2349 arteriosclerosis resistance ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:17643885|REF_RGD_ID:1642592 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2384 Wernicke encephalopathy ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:medial thalamic group, inferior colliculus, neuron PMID:18481165|REF_RGD_ID:2300278 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2615 papilloma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151359|PMID:16144915 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2671 transitional cell carcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10582676|PMID:10873095|PMID:12151359|PMID:12664575 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:18449376|REF_RGD_ID:2300124 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2841 asthma ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung: PMID:18097056|REF_RGD_ID:5135534 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2841 asthma ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:19862936|REF_RGD_ID:5135515 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2841 asthma ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:19342146|REF_RGD_ID:5135522 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2841 asthma ISO RGD:731007 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19878559|REF_RGD_ID:5135514 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2841 asthma severity ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNP: :rs689465 (human) PMID:18489027|REF_RGD_ID:5135526 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2841 asthma susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:15316498|REF_RGD_ID:5143931 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2841 asthma susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNP: :8473T>C (human) PMID:17573729|REF_RGD_ID:5143923 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:289 endometriosis ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:20056215|REF_RGD_ID:5135061 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:289 endometriosis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25446850 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:289 endometriosis treatment ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:23406865|REF_RGD_ID:7257718 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:299 adenocarcinoma ISO RGD:620349 D RGD:9068941 20200609 RGD associated with Esophageal Neoplasms PMID:17675820|REF_RGD_ID:1642603 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:299 adenocarcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10485483|PMID:16820089 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:2999 granulosa cell tumor ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01) PMID:11994539|REF_RGD_ID:2289157 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3008 invasive ductal carcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21153458 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3021 acute kidney failure ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21893983|REF_RGD_ID:5508181 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:305 carcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10485483 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3068 glioblastoma ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell PMID:10229132|REF_RGD_ID:5688250 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3068 glioblastoma disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:11121536|REF_RGD_ID:5688245 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3070 high grade glioma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15561105 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3071 gliosarcoma ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell PMID:10229132|REF_RGD_ID:5688250 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:polymorphism: :g.-765G>C (human) PMID:21655952|REF_RGD_ID:5135277 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:15949313|REF_RGD_ID:5143926 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3213 demyelinating disease ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:14694045|REF_RGD_ID:5688228 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3213 demyelinating disease ISO RGD:731007 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:21530210|REF_RGD_ID:5688267 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3312 bipolar disorder ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prefrontal cortex PMID:20038946|REF_RGD_ID:5688160 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11220737|PMID:15816863 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, neuron, glia PMID:14511332|REF_RGD_ID:5688235 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3393 coronary artery disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14642682 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:18670639|REF_RGD_ID:2317185 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:37 skin disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15451306 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15756444|PMID:16543248|PMID:18197933 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3770 pulmonary fibrosis ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17825173|REF_RGD_ID:1642597 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3770 pulmonary fibrosis ISO RGD:731006 D RGD:9068941 20200609 RGD associated with sarcoidosis; DNA:SNP: :-765G>C (human) PMID:21681100|REF_RGD_ID:5135504 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNP: :929G>C(human) PMID:20016751|REF_RGD_ID:5135471 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20592629|REF_RGD_ID:5135302 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:4029 gastritis ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach mucosa PMID:18646190|REF_RGD_ID:2300274 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:403 mouth disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:418 systemic scleroderma ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:21979415|REF_RGD_ID:5508306 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:4195 hyperglycemia ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14514642 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:4450 renal cell carcinoma ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:12708469|REF_RGD_ID:2300212 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:4450 renal cell carcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12664575 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:17899436|REF_RGD_ID:2300204 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:4481 allergic rhinitis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16979129 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:4492 avian influenza ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:18613795|REF_RGD_ID:5135502 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:4543 retrograde amnesia ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18523723|REF_RGD_ID:2300277 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:4914 esophagus adenocarcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12507933 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:4914 esophagus adenocarcinoma disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD protein: increased expression: esophagus PMID:12055587|REF_RGD_ID:13207437 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:4947 cholangiocarcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16818635 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:4947 cholangiocarcinoma ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:19621664|REF_RGD_ID:2317180 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:4989 pancreatitis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19820421 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:4989 pancreatitis onset ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:21372163|REF_RGD_ID:5508226 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:5082 liver cirrhosis severity ISO RGD:731006 D RGD:9068941 20200609 RGD human gene in mouse model PMID:29109031|REF_RGD_ID:14695008 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:21846384|REF_RGD_ID:5508195 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:5394 prolactinoma ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA:increased expression:pituitary gland PMID:22580984|REF_RGD_ID:11667097 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:5419 schizophrenia ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17881518|REF_RGD_ID:1642594 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12969226 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:557 kidney disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19643929 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:576 proteinuria ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19643929 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:5773 oral submucous fibrosis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:5844 myocardial infarction ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:15138244|REF_RGD_ID:1581289 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:6000 congestive heart failure ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA:increased expression:pituitary gland PMID:22580984|REF_RGD_ID:11667097 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:630 genetic disease ISO RGD:731006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:6432 pulmonary hypertension ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18542928|REF_RGD_ID:2300276 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:6432 pulmonary hypertension ISO RGD:731007 D RGD:9068941 20200609 RGD anoxia associated; PMID:19577709|REF_RGD_ID:5135495 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18373278|REF_RGD_ID:2300283 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11872629|PMID:12024111|PMID:14563831|PMID:16374840|PMID:17510421 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver PMID:24759835|REF_RGD_ID:14695011 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:liver, cytosol PMID:15800977|REF_RGD_ID:14695012 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1195A>G (rs689466) (human) PMID:24720952|REF_RGD_ID:14695010 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:620349 D RGD:9068941 20220520 RGD PMID:25999787|REF_RGD_ID:152177911 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:707 B-cell lymphoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14654083 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11978490|PMID:19192274 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:21905970|REF_RGD_ID:5508313 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16514081 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:783 end stage renal disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:820 myocarditis ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:16107267|REF_RGD_ID:1581288 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:8398 osteoarthritis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:32004530 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:8398 osteoarthritis susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:15334463|REF_RGD_ID:1625347 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:8437 intestinal obstruction ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:21051526|REF_RGD_ID:5135055 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:850 lung disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19084589 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:8534 gastroesophageal reflux disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21451212 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:8577 ulcerative colitis ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17429720|REF_RGD_ID:2300267 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:863 nervous system disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10698006 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:8634 prostate carcinoma in situ ISO RGD:731006 D RGD:9068941 20200609 RGD protein:altered localization PMID:18468781|REF_RGD_ID:2300123 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:8719 in situ carcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10582676|PMID:10873095 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:8719 in situ carcinoma ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:18617777|REF_RGD_ID:2317186 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:8719 in situ carcinoma ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:17652141|REF_RGD_ID:2317187 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:8778 Crohn's disease ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:21763290|REF_RGD_ID:5508200 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix, epithelial cell PMID:18565574|REF_RGD_ID:2299119 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:19606394|REF_RGD_ID:2317181 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:17575102|REF_RGD_ID:2317188 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000011 Gallbladder Neoplasms susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-765G>C (rs20417), -1195G>A (rs689466) (human) PMID:19455278|REF_RGD_ID:2317182 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18606213|REF_RGD_ID:5135219 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19376970 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:731006 D RGD:9068941 20200609 RGD associated with Biliary Tract Neoplasms PMID:18159174|REF_RGD_ID:2317165 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:731006 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:18353210|REF_RGD_ID:2300128 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:731006 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung; DNA:SNP: :929G>C(human) PMID:20016751|REF_RGD_ID:5135471 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:Esophagus PMID:22165968|REF_RGD_ID:5687745 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11059772|PMID:16322294|PMID:17707579 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000117 Esophageal Neoplasms susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNPs: :-1195A > G, -765G > C (human) PMID:16083713|REF_RGD_ID:5135528 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000197 Edema ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11820457 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10404093|PMID:17003101|PMID:17224647|PMID:22385256 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15492235 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:21725746|REF_RGD_ID:5508204 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000641 Pain ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18497304|REF_RGD_ID:2300228 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000641 Pain ISO RGD:620349 D RGD:9068941 20200609 RGD associated with Osteoarthritis, Knee;mRNA, protein:increased expression:spinal cord PMID:18637715|REF_RGD_ID:2300223 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000641 Pain susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD associated with lung neoplasm;DNA:SNP:exon:rs5275 (human) PMID:19773451|REF_RGD_ID:5135482 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000784 Fibrosis ISO RGD:620349 D RGD:9068941 20200609 RGD associated with Cholestasis PMID:18462380|REF_RGD_ID:2300279 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000784 Fibrosis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11872629 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:intestine PMID:17699727|REF_RGD_ID:2290567 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21048090|REF_RGD_ID:5134956 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:620349 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:18398660|REF_RGD_ID:2300249 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16489006|PMID:18509974 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731006 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:18663571|REF_RGD_ID:2300119 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731006 D RGD:9068941 20200609 RGD associated with breast neoplasm; PMID:19421193|REF_RGD_ID:5135498 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731006 D RGD:9068941 20200609 RGD associated with osteosarcoma; PMID:18797196|REF_RGD_ID:5135500 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731007 D RGD:9068941 20200609 RGD associated with lung neoplasm PMID:21238650|REF_RGD_ID:5135282 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000972 Fever ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21741371|REF_RGD_ID:5508203 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000972 Fever ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25164664 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000998 Brain Injuries ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21866634|REF_RGD_ID:5508191 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000998 Brain Injuries ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12410334|PMID:20810888|PMID:21549006 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9000998 Brain Injuries ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:19719848|REF_RGD_ID:5688162 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9001109 Anorexia treatment ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:22902858|REF_RGD_ID:13825124 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9001129 Alcohol Withdrawal Delirium ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:16318954|REF_RGD_ID:5688289 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression: PMID:14871450|REF_RGD_ID:5688227 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression: PMID:14871450|REF_RGD_ID:5688227 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9001472 Nasal Polyps ISO RGD:731006 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis; protein:increased expression:nasal mucosa: PMID:16517580|REF_RGD_ID:5143924 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9001488 Human Influenza ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:16272346|REF_RGD_ID:5143925 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9001542 Albuminuria ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17890881 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17565644|PMID:18555214 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9001579 Neurogenic Inflammation ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17539917 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9001642 Intestinal Polyps ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10753194|PMID:11245490|PMID:11507063 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17112505|REF_RGD_ID:5688268 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:620349 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21441310|REF_RGD_ID:5135032 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002211 Hyperalgesia ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:15464832|REF_RGD_ID:5688224 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002211 Hyperalgesia ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17112505|PMID:17989504 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002221 Hyperplasia ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151359|PMID:17093206|PMID:22561872 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16314473 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:620349 D RGD:9068941 20200609 RGD associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney PMID:17272666|REF_RGD_ID:2308941 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12664575 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10753955|PMID:14754878|PMID:15126378|PMID:16506214|PMID:17609663 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731006 D RGD:9068941 20200609 RGD protein:altered localization PMID:18468781|REF_RGD_ID:2300123 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002304 Prostatic Neoplasms severity ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:18242387|REF_RGD_ID:2300193 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002457 Experimental Arthritis ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18758904|REF_RGD_ID:2300221 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002457 Experimental Arthritis ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:synovium PMID:22289897|REF_RGD_ID:5687744 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002457 Experimental Arthritis ISO RGD:731007 D RGD:9068941 20200609 RGD protein:increased expression:autopod joint PMID:21765105|REF_RGD_ID:5508310 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002589 Bone Fractures ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18795192|REF_RGD_ID:5135218 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002669 Hypoxia ISO RGD:731007 D RGD:9068941 20200609 RGD protein:increased expression:pulmonary artery PMID:19710084|REF_RGD_ID:5135519 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21385433|REF_RGD_ID:5508223 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:731007 D RGD:9068941 20200609 RGD protein:increased expression:neuron, astrocyte, blood vessel PMID:21385433|REF_RGD_ID:5508223 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:14766256|REF_RGD_ID:2300209 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:18171606|REF_RGD_ID:2298936 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell PMID:10229132|REF_RGD_ID:5688250 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:731007 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, cerebellum, spinal cord PMID:21667309|REF_RGD_ID:5688149 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21268133|REF_RGD_ID:5135051 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189188|PMID:17667525|PMID:21081470 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix, epithelial cell PMID:18565574|REF_RGD_ID:2299119 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9003507 Premature Birth ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26055944|PMID:27748297 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9003613 Laryngeal Neoplasms severity ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:larynx PMID:20429377|REF_RGD_ID:5135434 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:16247333|PMID:21944479|REF_RGD_ID:1580660|REF_RGD_ID:5508180 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:620349 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:21394482|REF_RGD_ID:5135045 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10588920|PMID:10594344|PMID:11567657|PMID:16386242|PMID:18258783|PMID:19673871 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004389 Bone Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16489006 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004397 calcification of aortic valve ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:25722432|REF_RGD_ID:13207434 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004397 calcification of aortic valve disease_progression ISO RGD:731007 D RGD:9068941 20200609 RGD protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells PMID:25722432|REF_RGD_ID:13207434 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004464 Skin Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17499752|PMID:19748995|PMID:21159610 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22387750 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004590 Acute Liver Failure ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18336855|REF_RGD_ID:2300286 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004590 Acute Liver Failure severity ISO RGD:731006 D RGD:9068941 20200609 RGD human gene in mouse model PMID:19017995|REF_RGD_ID:14695009 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004610 Acute Lung Injury ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19567182|REF_RGD_ID:5135496 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004610 Acute Lung Injury ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:20926798|REF_RGD_ID:5135287 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18542928|REF_RGD_ID:2300276 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:18400268|REF_RGD_ID:2300126 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14566678 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18279516|REF_RGD_ID:2300130 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:21623034|REF_RGD_ID:5135030 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:18676768|REF_RGD_ID:2300118 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9005372 Inflammation ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17701021|REF_RGD_ID:1642601 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9005372 Inflammation ISO RGD:620349 D RGD:9068941 20200609 RGD associated with Cholestasis PMID:18435714|REF_RGD_ID:2300281 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9005372 Inflammation ISO RGD:620349 D RGD:9068941 20200609 RGD associated with Ileus PMID:18266613|REF_RGD_ID:2300287 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9005372 Inflammation ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11094054|PMID:11321505|PMID:19084589 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9005372 Inflammation ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:17701021|REF_RGD_ID:1642601 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18706904|REF_RGD_ID:2300222 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21521772|REF_RGD_ID:5135278 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve PMID:17720896|REF_RGD_ID:1642588 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14514642|PMID:21414306 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9005873 Tongue Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16543248|PMID:22561872 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9005930 Endotoxemia ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21641970|REF_RGD_ID:5135029 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:17883899|REF_RGD_ID:1642586 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression: PMID:12916703|REF_RGD_ID:5688236 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10698006 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007073 Cough ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:20696045|REF_RGD_ID:5135513 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007096 Stroke ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20083630 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007096 Stroke ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:15138244|REF_RGD_ID:1581289 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007278 Anaphylaxis ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18480553|REF_RGD_ID:2300247 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007278 Anaphylaxis ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:17822719|REF_RGD_ID:1642600 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007284 Precocious Puberty ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21402727 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007346 Cachexia ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17878525 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:20051374|REF_RGD_ID:5135063 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12969226 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11743745 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007557 Laryngeal Papillomatosis ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:19736197|REF_RGD_ID:5135499 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:18416056|REF_RGD_ID:2300125 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007730 Burns ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15650120 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17660401|REF_RGD_ID:2300261 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9007980 Sleep Deprivation ISO RGD:731007 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:18077435|REF_RGD_ID:6480426 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10485483|PMID:11375891|PMID:12837940|PMID:15753380|PMID:19671906|PMID:20427397 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16127422|PMID:16870006|PMID:17285134|PMID:18498876|PMID:18509974 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:breast PMID:14605950|REF_RGD_ID:2300210 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast PMID:18612134|REF_RGD_ID:2300120 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:18334709|REF_RGD_ID:2300129 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9009039 Hyperemia ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11820457 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17761345 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9206 Barrett's esophagus ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17675820|REF_RGD_ID:1642603 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9206 Barrett's esophagus ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11059772|PMID:15387324|PMID:17244951 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9206 Barrett's esophagus disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:23011828|REF_RGD_ID:7349348 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9206 Barrett's esophagus disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA: increased expression: Esophagus PMID:12105834|REF_RGD_ID:13207438 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9351 diabetes mellitus ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15885672 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9351 diabetes mellitus ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:15885672|REF_RGD_ID:5143927 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18706904|REF_RGD_ID:2300222 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9452 fatty liver disease ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver PMID:21643627|REF_RGD_ID:5135028 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9655 oral mucosa leukoplakia ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18202791 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9675 pulmonary emphysema ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:20472710|REF_RGD_ID:4891488 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9743 diabetic neuropathy ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17720896|REF_RGD_ID:1642588 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9743 diabetic neuropathy ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:peripheral nerve PMID:21951301|REF_RGD_ID:5508311 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9970 obesity ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21156398 12279597 PTGS2 prostaglandin-endoperoxide synthase 2 gene DOID:9970 obesity ISO RGD:731007 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:21978752|REF_RGD_ID:5508307 12279620 LIFR LIF receptor subunit alpha gene DOID:0080205 CAKUT ISO RGD:1354198 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:26627873|PMID:28334964|PMID:28492532|PMID:34063511|PMID:34426522 12279620 LIFR LIF receptor subunit alpha gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1354198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 PMID:14740318|PMID:28492532 12279620 LIFR LIF receptor subunit alpha gene DOID:11612 polycystic ovary syndrome ISO RGD:1354198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12279620 LIFR LIF receptor subunit alpha gene DOID:2256 osteochondrodysplasia ISO RGD:1354198 D RGD:9068941 20200609 RGD Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome, OMIM:151443 PMID:14740318|REF_RGD_ID:1600614 12279620 LIFR LIF receptor subunit alpha gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 12279620 LIFR LIF receptor subunit alpha gene DOID:630 genetic disease ISO RGD:1354198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12279620 LIFR LIF receptor subunit alpha gene DOID:65 connective tissue disease ISO RGD:1354198 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28334964|PMID:28492532 12279620 LIFR LIF receptor subunit alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1354198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12279620 LIFR LIF receptor subunit alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 12279620 LIFR LIF receptor subunit alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12279620 LIFR LIF receptor subunit alpha gene DOID:9004577 Stuve-Wiedemann Syndrome ISO RGD:1354198 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Stuve-Wiedemann syndrome PMID:14740318|PMID:16199547|PMID:17576681|PMID:20447141|PMID:24033266|PMID:24477277|PMID:24988918|PMID:25326635|PMID:25540807|PMID:25741868|PMID:25868946|PMID:26627873|PMID:26752647|PMID:28334964|PMID:28492532|PMID:30614825|PMID:34063511|PMID:34426522|PMID:9536098 12279620 LIFR LIF receptor subunit alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:621431 D RGD:9068941 20200609 RGD PMID:15786720|REF_RGD_ID:1581858 12279620 LIFR LIF receptor subunit alpha gene DOID:9008086 Developmental Disabilities ISO RGD:1354198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:30311386 12279620 LIFR LIF receptor subunit alpha gene DOID:9008909 Stuve-Wiedemann Syndrome 1 ISO RGD:1354198 D RGD:7240710 20180130 OMIM 12279620 LIFR LIF receptor subunit alpha gene DOID:9008909 Stuve-Wiedemann Syndrome 1 ISO RGD:1354198 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 PMID:14740318|PMID:16199547|PMID:24477277|PMID:25741868|PMID:25868946|PMID:26627873|PMID:28334964|PMID:28492532|PMID:30919572|PMID:34063511|PMID:34426522 12279648 MOV10L1 Mov10 like RISC complex RNA helicase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1345883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12279648 MOV10L1 Mov10 like RISC complex RNA helicase 1 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1345883 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12279648 MOV10L1 Mov10 like RISC complex RNA helicase 1 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1345883 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:35476666 12279648 MOV10L1 Mov10 like RISC complex RNA helicase 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1345883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12279648 MOV10L1 Mov10 like RISC complex RNA helicase 1 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1345883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12279648 MOV10L1 Mov10 like RISC complex RNA helicase 1 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1345883 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12279648 MOV10L1 Mov10 like RISC complex RNA helicase 1 gene DOID:1059 intellectual disability ISO RGD:1345883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12279648 MOV10L1 Mov10 like RISC complex RNA helicase 1 gene DOID:14227 azoospermia ISO RGD:1345883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 12279648 MOV10L1 Mov10 like RISC complex RNA helicase 1 gene DOID:630 genetic disease ISO RGD:1345883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279648 MOV10L1 Mov10 like RISC complex RNA helicase 1 gene DOID:9004961 Spermatogenic Failure 73 ISO RGD:1345883 D RGD:7240710 20220518 OMIM 12279648 MOV10L1 Mov10 like RISC complex RNA helicase 1 gene DOID:9004961 Spermatogenic Failure 73 ISO RGD:1345883 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 73 PMID:25741868|PMID:35476666 12279693 ACTL7A actin like 7A gene DOID:12336 male infertility ISO RGD:1312292 D RGD:9068941 20200609 RGD PMID:26957350|REF_RGD_ID:13831339 12279693 ACTL7A actin like 7A gene DOID:4006 bladder urothelial carcinoma ISO RGD:1312292 D RGD:9068941 20200609 RGD PMID:29058301|REF_RGD_ID:13831338 12279693 ACTL7A actin like 7A gene DOID:630 genetic disease ISO RGD:1312292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279698 SPMIP4 sperm associated microtubule inner protein 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12279698 SPMIP4 sperm associated microtubule inner protein 4 gene DOID:630 genetic disease ISO RGD:1349806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279716 LURAP1 leucine rich adaptor protein 1 gene DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O ISO RGD:1605156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O PMID:19299310|PMID:20816175|PMID:21447391|PMID:26908613|PMID:27391550|PMID:28492532 12279716 LURAP1 leucine rich adaptor protein 1 gene DOID:630 genetic disease ISO RGD:1605156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279722 PSMA2 proteasome 20S subunit alpha 2 gene DOID:114 heart disease ISO RGD:732886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 12279722 PSMA2 proteasome 20S subunit alpha 2 gene DOID:11476 osteoporosis ISO RGD:732886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12279722 PSMA2 proteasome 20S subunit alpha 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12279734 LGR4 leucine rich repeat containing G protein-coupled receptor 4 gene DOID:1059 intellectual disability ISO RGD:1605061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12279734 LGR4 leucine rich repeat containing G protein-coupled receptor 4 gene DOID:11476 osteoporosis ISO RGD:1605061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 17 PMID:23644456 12279734 LGR4 leucine rich repeat containing G protein-coupled receptor 4 gene DOID:11476 osteoporosis susceptibility ISO RGD:1605061 D RGD:7240710 20230517 OMIM 12279734 LGR4 leucine rich repeat containing G protein-coupled receptor 4 gene DOID:1686 glaucoma ISO RGD:1616653 D RGD:9068941 20220825 MouseDO 12279734 LGR4 leucine rich repeat containing G protein-coupled receptor 4 gene DOID:630 genetic disease ISO RGD:1605061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279734 LGR4 leucine rich repeat containing G protein-coupled receptor 4 gene DOID:9005231 Self-Limited Delayed Puberty ISO RGD:1605061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DELAYED PUBERTY, SELF-LIMITED PMID:32493844 12279734 LGR4 leucine rich repeat containing G protein-coupled receptor 4 gene DOID:9005231 Self-Limited Delayed Puberty susceptibility ISO RGD:1605061 D RGD:7240710 20230517 OMIM 12279755 PRSS54 serine protease 54 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:3438752 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12279755 PRSS54 serine protease 54 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:3438752 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12279755 PRSS54 serine protease 54 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:3438752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12279755 PRSS54 serine protease 54 gene DOID:630 genetic disease ISO RGD:3438752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279763 LNPK lunapark, ER junction formation factor gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1323819 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12279763 LNPK lunapark, ER junction formation factor gene DOID:630 genetic disease ISO RGD:1323819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279763 LNPK lunapark, ER junction formation factor gene DOID:9009221 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM ISO RGD:1323819 D RGD:7240710 20190315 OMIM 12279763 LNPK lunapark, ER junction formation factor gene DOID:9009221 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM ISO RGD:1323819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum PMID:25741868|PMID:30032983 12279792 POLR2A RNA polymerase II subunit A gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1352013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12279792 POLR2A RNA polymerase II subunit A gene DOID:0080893 Bainbridge-Ropers syndrome ISO RGD:1352013 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bainbridge-Ropers syndrome PMID:25741868 12279792 POLR2A RNA polymerase II subunit A gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1352013 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12279792 POLR2A RNA polymerase II subunit A gene DOID:1059 intellectual disability ISO RGD:1352013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12279792 POLR2A RNA polymerase II subunit A gene DOID:12177 common variable immunodeficiency ISO RGD:1352013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12279792 POLR2A RNA polymerase II subunit A gene DOID:12858 Huntington's disease ISO RGD:1557071 D RGD:9068941 20200609 RGD PMID:20089533|REF_RGD_ID:10043799 12279792 POLR2A RNA polymerase II subunit A gene DOID:2729 dyskeratosis congenita ISO RGD:1352013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12279792 POLR2A RNA polymerase II subunit A gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1352013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12279792 POLR2A RNA polymerase II subunit A gene DOID:3320 Tay-Sachs disease ISO RGD:1352013 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:25741868 12279792 POLR2A RNA polymerase II subunit A gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1352013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12279792 POLR2A RNA polymerase II subunit A gene DOID:630 genetic disease ISO RGD:1352013 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19344873|PMID:25741868|PMID:31353023 12279792 POLR2A RNA polymerase II subunit A gene DOID:9000637 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES ISO RGD:1352013 D RGD:7240710 20191030 OMIM 12279792 POLR2A RNA polymerase II subunit A gene DOID:9000637 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES ISO RGD:1352013 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities PMID:24033266|PMID:25741868|PMID:31353023|PMID:33665635 12279792 POLR2A RNA polymerase II subunit A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24033266|PMID:25741868 12279792 POLR2A RNA polymerase II subunit A gene DOID:9005600 Infarction ISO RGD:1587326 D RGD:9068941 20200609 RGD PMID:22535878|REF_RGD_ID:9681722 12279792 POLR2A RNA polymerase II subunit A gene DOID:9008582 Developmental Disease ISO RGD:1352013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12279825 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:0070271 Lynch syndrome 1 ISO RGD:1347724 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:28492532 12279825 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:0090066 Fanconi-like syndrome ISO RGD:1557108 D RGD:9068941 20220825 MouseDO OMIM:227850 12279825 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1347724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12279825 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:0111092 Fanconi anemia complementation group P ISO RGD:1347724 D RGD:7240710 20180130 OMIM 12279825 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:0111092 Fanconi anemia complementation group P ISO RGD:1347724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group P PMID:17576681|PMID:21240275|PMID:21240277|PMID:21805310|PMID:22383991|PMID:22401137|PMID:22911665|PMID:23211700|PMID:23840564|PMID:23994477|PMID:24763404|PMID:25288723|PMID:25326635|PMID:25741868|PMID:26201965|PMID:26824983|PMID:27153395|PMID:28125078|PMID:28202063|PMID:28492532|PMID:28678401|PMID:29146900|PMID:29344583|PMID:29607586|PMID:29641532|PMID:29868112|PMID:29891941|PMID:30268473|PMID:30306255|PMID:30613976|PMID:30995915|PMID:31300551|PMID:31469826|PMID:32368696|PMID:32546565|PMID:33270637|PMID:33558524|PMID:9536098 12279825 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1347724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:21240277|PMID:22401137|PMID:22911665|PMID:23211700|PMID:23840564|PMID:25741868|PMID:26201965|PMID:28202063|PMID:28492532|PMID:28678401|PMID:30613976|PMID:32546565|PMID:33606809 12279825 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:10907 microcephaly ISO RGD:1347724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12279825 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:13636 Fanconi anemia ISO RGD:1347724 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:16199547|PMID:17576681|PMID:19596235|PMID:19596236|PMID:21240277|PMID:21805310|PMID:22383991|PMID:22401137|PMID:22911665|PMID:23211700|PMID:23840564|PMID:23994477|PMID:24763404|PMID:25288723|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26201965|PMID:26824983|PMID:27153395|PMID:27913932|PMID:28202063|PMID:28492532|PMID:28678401|PMID:29607586|PMID:29868112|PMID:29915322|PMID:30306255|PMID:30613976|PMID:31300551|PMID:32368696|PMID:33270637|PMID:9536098 12279825 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:13636 Fanconi anemia ISO RGD:1347724 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia PMID:16199547|PMID:17576681|PMID:19596235|PMID:19596236|PMID:21240277|PMID:21805310|PMID:22383991|PMID:22401137|PMID:2291166|PMID:22911665|PMID:23211700|PMID:23840564|PMID:23994477|PMID:24763404|PMID:25288723|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26201965|PMID:26824983|PMID:27153395|PMID:27913932|PMID:28202063|PMID:28492532|PMID:28678401|PMID:29146900|PMID:29344583|PMID:29607586|PMID:29641532|PMID:29868112|PMID:29891941|PMID:29915322|PMID:30268473|PMID:30306255|PMID:30613976|PMID:30995915|PMID:31300551|PMID:31469826|PMID:32368696|PMID:32546565|PMID:33270637|PMID:33606809|PMID:9536098 12279825 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:13636 Fanconi anemia ISO RGD:1347724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia PMID:16199547|PMID:17576681|PMID:19596235|PMID:19596236|PMID:21240275|PMID:21240277|PMID:21805310|PMID:22383991|PMID:22401137|PMID:2291166|PMID:22911665|PMID:23211700|PMID:23840564|PMID:23994477|PMID:24037726|PMID:24733792|PMID:24763404|PMID:25288723|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26201965|PMID:26824983|PMID:27153395|PMID:27913932|PMID:28125078|PMID:28202063|PMID:28492532|PMID:28678401|PMID:29146900|PMID:29344583|PMID:29607586|PMID:29641532|PMID:29868112|PMID:29891941|PMID:29915322|PMID:30268473|PMID:30306255|PMID:30613976|PMID:30995915|PMID:31300551|PMID:31469826|PMID:32368696|PMID:32546565|PMID:33270637|PMID:33558524|PMID:33606809|PMID:9536098 12279825 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:13636 Fanconi anemia ISO RGD:1347724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:16199547|PMID:17576681|PMID:19596235|PMID:19596236|PMID:21240275|PMID:21240277|PMID:21805310|PMID:22383991|PMID:22401137|PMID:2291166|PMID:22911665|PMID:23211700|PMID:23840564|PMID:23994477|PMID:24037726|PMID:24733792|PMID:24763404|PMID:25288723|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26201965|PMID:26689913|PMID:26824983|PMID:27153395|PMID:27913932|PMID:28125078|PMID:28202063|PMID:28492532|PMID:28678401|PMID:29146900|PMID:29344583|PMID:29607586|PMID:29641532|PMID:29868112|PMID:29891941|PMID:29915322|PMID:30268473|PMID:30306255|PMID:30613976|PMID:30995915|PMID:31300551|PMID:31469826|PMID:32368696|PMID:32546565|PMID:33270637|PMID:33558524|PMID:33606809|PMID:9536098 12279825 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:1612 breast cancer ISO RGD:1347724 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:22401137|PMID:22911665|PMID:23211700|PMID:23840564|PMID:25741868|PMID:26201965|PMID:28202063|PMID:28492532 12279825 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:1826 epilepsy ISO RGD:1347724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12279825 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1347724 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12279825 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1347724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12279825 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:3068 glioblastoma ISO RGD:1347724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma multiforme PMID:25741868 12279825 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:630 genetic disease ISO RGD:1347724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12279825 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:687 hepatoblastoma ISO RGD:1347724 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:28492532 12279825 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1347724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 12279825 SLX4 SLX4 structure-specific endonuclease subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 12279843 RDH11 retinol dehydrogenase 11 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1323753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 12279843 RDH11 retinol dehydrogenase 11 gene DOID:607 paraplegia ISO RGD:1323753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12279843 RDH11 retinol dehydrogenase 11 gene DOID:630 genetic disease ISO RGD:1323753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12279843 RDH11 retinol dehydrogenase 11 gene DOID:9000849 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome ISO RGD:1323753 D RGD:7240710 20180130 OMIM 12279843 RDH11 retinol dehydrogenase 11 gene DOID:9000849 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome ISO RGD:1323753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy, juvenile cataracts, and short stature syndrome PMID:24916380|PMID:25741868|PMID:28492532 12279857 GGA1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1317154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12279857 GGA1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1317154 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12279857 GGA1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1317154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12279857 GGA1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1317154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12279857 GGA1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 gene DOID:630 genetic disease ISO RGD:1317154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279881 BTBD2 BTB domain containing 2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1344972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12279881 BTBD2 BTB domain containing 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:1344972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12279881 BTBD2 BTB domain containing 2 gene DOID:630 genetic disease ISO RGD:1344972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279881 BTBD2 BTB domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12279897 PLCB1 phospholipase C beta 1 gene DOID:0050562 West syndrome ISO RGD:733094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive | ClinVar Annotator: match by term: Infantile spasms PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 12279897 PLCB1 phospholipase C beta 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:733094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19805378 12279897 PLCB1 phospholipase C beta 1 gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:733094 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone marrow, blood, mononuclear cell (human) PMID:16820933|REF_RGD_ID:11535164 12279897 PLCB1 phospholipase C beta 1 gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:733094 D RGD:9068941 20200609 RGD PMID:21109771|REF_RGD_ID:11535956 12279897 PLCB1 phospholipase C beta 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733094 D RGD:7240710 20180130 OMIM 12279897 PLCB1 phospholipase C beta 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:16199547|PMID:17576681|PMID:18414213|PMID:20833646|PMID:22690784|PMID:24684524|PMID:24747189|PMID:25741868|PMID:25950944|PMID:26467025|PMID:26818157|PMID:28492532|PMID:31883110|PMID:32733715|PMID:9305844|PMID:9536098 12279897 PLCB1 phospholipase C beta 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733094 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:16199547|PMID:17576681|PMID:18414213|PMID:20833646|PMID:22690784|PMID:24684524|PMID:24747189|PMID:25741868|PMID:25950944|PMID:26467025|PMID:26818157|PMID:28492532|PMID:31883110|PMID:9305844|PMID:9536098 12279897 PLCB1 phospholipase C beta 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:733094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 12279897 PLCB1 phospholipase C beta 1 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:733094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 12279897 PLCB1 phospholipase C beta 1 gene DOID:10652 Alzheimer's disease ISO RGD:733094 D RGD:9068941 20200609 RGD PMID:8534418|REF_RGD_ID:13825140 12279897 PLCB1 phospholipase C beta 1 gene DOID:10652 Alzheimer's disease ISO RGD:735582 D RGD:9068941 20220825 MouseDO OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 12279897 PLCB1 phospholipase C beta 1 gene DOID:11832 visual epilepsy ISO RGD:733094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure PMID:18414213|PMID:24747189|PMID:25741868|PMID:26467025|PMID:28492532 12279897 PLCB1 phospholipase C beta 1 gene DOID:1826 epilepsy ISO RGD:733094 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12279897 PLCB1 phospholipase C beta 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:733094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:29358611 12279897 PLCB1 phospholipase C beta 1 gene DOID:5419 schizophrenia ISO RGD:733094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17667964 12279897 PLCB1 phospholipase C beta 1 gene DOID:5419 schizophrenia ISO RGD:735582 D RGD:9068941 20220825 MouseDO OMIM:181500 12279897 PLCB1 phospholipase C beta 1 gene DOID:5844 myocardial infarction ISO RGD:3344 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:9521338|REF_RGD_ID:2314514 12279897 PLCB1 phospholipase C beta 1 gene DOID:630 genetic disease ISO RGD:733094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:24747189|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 12279897 PLCB1 phospholipase C beta 1 gene DOID:9000641 Pain ISO RGD:733094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16405873 12279897 PLCB1 phospholipase C beta 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:733094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12279897 PLCB1 phospholipase C beta 1 gene DOID:9119 acute myeloid leukemia severity ISO RGD:733094 D RGD:9068941 20200609 RGD mRNA:increased expression:blood (human) PMID:20516454|REF_RGD_ID:11535940 12279897 PLCB1 phospholipase C beta 1 gene DOID:9245 Alagille syndrome ISO RGD:733094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532|PMID:32733715 12279932 ZHX3 zinc fingers and homeoboxes 3 gene DOID:2234 focal epilepsy ISO RGD:1342474 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12279932 ZHX3 zinc fingers and homeoboxes 3 gene DOID:630 genetic disease ISO RGD:1342474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12279957 LOXL2 lysyl oxidase like 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1318201 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12279957 LOXL2 lysyl oxidase like 2 gene DOID:12236 primary biliary cholangitis ISO RGD:1318201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 12279957 LOXL2 lysyl oxidase like 2 gene DOID:1883 hepatitis C ISO RGD:1318201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 12279957 LOXL2 lysyl oxidase like 2 gene DOID:2043 hepatitis B ISO RGD:1318201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 12279957 LOXL2 lysyl oxidase like 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1318201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24716982 12279957 LOXL2 lysyl oxidase like 2 gene DOID:630 genetic disease ISO RGD:1318201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279957 LOXL2 lysyl oxidase like 2 gene DOID:893 Wilson disease ISO RGD:1318201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 12279957 LOXL2 lysyl oxidase like 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12279957 LOXL2 lysyl oxidase like 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1318201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 12279957 LOXL2 lysyl oxidase like 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1318201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 12279957 LOXL2 lysyl oxidase like 2 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1318201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12279957 LOXL2 lysyl oxidase like 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1318201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19330836|PMID:24014025 12279975 LOC487476 rho GTPase-activating protein 11A gene DOID:630 genetic disease ISO RGD:1602334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279975 LOC487476 rho GTPase-activating protein 11A gene DOID:684 hepatocellular carcinoma ISO RGD:1602334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12279975 LOC487476 rho GTPase-activating protein 11A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12279975 LOC487476 rho GTPase-activating protein 11A gene DOID:9256 colorectal cancer ISO RGD:1602334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 12279995 LRFN5 leucine rich repeat and fibronectin type III domain containing 5 gene DOID:630 genetic disease ISO RGD:1319662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12279995 LRFN5 leucine rich repeat and fibronectin type III domain containing 5 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319662 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12280007 KPNB1 karyopherin subunit beta 1 gene DOID:4001 ovarian carcinoma ISO RGD:737037 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 12280007 KPNB1 karyopherin subunit beta 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12280007 KPNB1 karyopherin subunit beta 1 gene DOID:630 genetic disease ISO RGD:737037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280033 UBE2Z ubiquitin conjugating enzyme E2 Z gene DOID:630 genetic disease ISO RGD:1606510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280045 MIF macrophage migration inhibitory factor gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:734203 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:9372356 12280045 MIF macrophage migration inhibitory factor gene DOID:0050700 cardiomyopathy ISO RGD:621163 D RGD:9068941 20210115 RGD associated with Endotoxemia PMID:15879312|REF_RGD_ID:1641991 12280045 MIF macrophage migration inhibitory factor gene DOID:0060041 autism spectrum disorder ISO RGD:734203 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30503813 12280045 MIF macrophage migration inhibitory factor gene DOID:0060180 colitis ISO RGD:621163 D RGD:9068941 20210115 RGD PMID:17324399|REF_RGD_ID:1641979 12280045 MIF macrophage migration inhibitory factor gene DOID:0060180 colitis ISO RGD:734203 D RGD:9068941 20210115 CTD CTD Direct Evidence: therapeutic PMID:12105854 12280045 MIF macrophage migration inhibitory factor gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:621163 D RGD:9068941 20210115 RGD PMID:12612911|REF_RGD_ID:727512 12280045 MIF macrophage migration inhibitory factor gene DOID:0081135 agammaglobulinemia 2 ISO RGD:734203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 12280045 MIF macrophage migration inhibitory factor gene DOID:10533 viral pneumonia ISO RGD:734204 D RGD:9068941 20210115 RGD PMID:19941385|REF_RGD_ID:4891005 12280045 MIF macrophage migration inhibitory factor gene DOID:10763 hypertension ISO RGD:621163 D RGD:9068941 20210115 RGD PMID:19799867|REF_RGD_ID:4890974 12280045 MIF macrophage migration inhibitory factor gene DOID:11396 pulmonary edema ISO RGD:734204 D RGD:9068941 20210115 RGD associated with hemorrhage PMID:17277045|REF_RGD_ID:4891015 12280045 MIF macrophage migration inhibitory factor gene DOID:11650 bronchopulmonary dysplasia ISO RGD:734203 D RGD:9068941 20210115 RGD associated with Respiratory Distress Syndrome, Newborn; protein:increased expression:lung PMID:18097062|REF_RGD_ID:4891007 12280045 MIF macrophage migration inhibitory factor gene DOID:1205 allergic disease ISO RGD:734203 D RGD:9068941 20210115 RGD DNA:polymorphisms:promoter: PMID:14962818|REF_RGD_ID:4891046 12280045 MIF macrophage migration inhibitory factor gene DOID:12716 newborn respiratory distress syndrome ISO RGD:734204 D RGD:9068941 20210115 RGD PMID:18097062|REF_RGD_ID:4891007 12280045 MIF macrophage migration inhibitory factor gene DOID:12849 autistic disorder ISO RGD:734203 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:18676531 12280045 MIF macrophage migration inhibitory factor gene DOID:14115 toxic shock syndrome ISO RGD:621163 D RGD:9068941 20210115 RGD PMID:17381395|PMID:17565848|REF_RGD_ID:1641978|REF_RGD_ID:4891013 12280045 MIF macrophage migration inhibitory factor gene DOID:1485 cystic fibrosis severity ISO RGD:734203 D RGD:9068941 20210115 RGD DNA:repeats:promoter PMID:16179637|REF_RGD_ID:4891053 12280045 MIF macrophage migration inhibitory factor gene DOID:1596 depressive disorder ISO RGD:734203 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:20177408 12280045 MIF macrophage migration inhibitory factor gene DOID:1679 cystitis ISO RGD:621163 D RGD:9068941 20210115 RGD PMID:19066630|REF_RGD_ID:4890977 12280045 MIF macrophage migration inhibitory factor gene DOID:1679 cystitis ISO RGD:621163 D RGD:9068941 20210115 RGD mRNA, protein:increased expression:nervous system PMID:12853844|REF_RGD_ID:1642002 12280045 MIF macrophage migration inhibitory factor gene DOID:1790 malignant mesothelioma ISO RGD:734203 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 12280045 MIF macrophage migration inhibitory factor gene DOID:1826 epilepsy ISO RGD:734203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12280045 MIF macrophage migration inhibitory factor gene DOID:2030 anxiety disorder ISO RGD:734203 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:20177408 12280045 MIF macrophage migration inhibitory factor gene DOID:2349 arteriosclerosis ISO RGD:734204 D RGD:9068941 20210115 RGD PMID:17435771|REF_RGD_ID:1641949 12280045 MIF macrophage migration inhibitory factor gene DOID:2841 asthma ISO RGD:621163 D RGD:9068941 20210115 RGD PMID:16455830|REF_RGD_ID:1641985 12280045 MIF macrophage migration inhibitory factor gene DOID:2841 asthma ISO RGD:734203 D RGD:9068941 20210115 RGD DNA:SNP:promoter:rs755622(human) PMID:19317738|REF_RGD_ID:4891059 12280045 MIF macrophage migration inhibitory factor gene DOID:2841 asthma ISO RGD:734203 D RGD:9068941 20210115 RGD protein:increased expression:bronchoalveolar lavage fluid PMID:9637721|REF_RGD_ID:4891043 12280045 MIF macrophage migration inhibitory factor gene DOID:2841 asthma ISO RGD:734204 D RGD:9068941 20210115 RGD PMID:17373669|REF_RGD_ID:4891035 12280045 MIF macrophage migration inhibitory factor gene DOID:2841 asthma severity ISO RGD:734203 D RGD:9068941 20210115 RGD DNA:repeats:promoter PMID:16186482|REF_RGD_ID:4891052 12280045 MIF macrophage migration inhibitory factor gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:734203 D RGD:9068941 20210115 RGD DNA:SNP: :rs755622 (human) PMID:20439102|REF_RGD_ID:4891004 12280045 MIF macrophage migration inhibitory factor gene DOID:305 carcinoma ISO RGD:734203 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12280045 MIF macrophage migration inhibitory factor gene DOID:3612 retinitis ISO RGD:621163 D RGD:9068941 20210115 RGD PMID:10617911|REF_RGD_ID:1642013 12280045 MIF macrophage migration inhibitory factor gene DOID:3908 lung non-small cell carcinoma ISO RGD:734203 D RGD:9068941 20210115 RGD PMID:12576459|REF_RGD_ID:4891022 12280045 MIF macrophage migration inhibitory factor gene DOID:4483 rhinitis ISO RGD:734204 D RGD:9068941 20210115 RGD PMID:15922619|REF_RGD_ID:4891056 12280045 MIF macrophage migration inhibitory factor gene DOID:4483 rhinitis severity ISO RGD:734203 D RGD:9068941 20210115 RGD protein:increased expression:serum, nasal mucosa PMID:15053202|REF_RGD_ID:4891045 12280045 MIF macrophage migration inhibitory factor gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:621163 D RGD:9068941 20210115 RGD PMID:10780884|REF_RGD_ID:1642011 12280045 MIF macrophage migration inhibitory factor gene DOID:5154 borna disease ISO RGD:621163 D RGD:9068941 20210115 RGD protein:increased expression:astrocyte PMID:11870869|REF_RGD_ID:1642006 12280045 MIF macrophage migration inhibitory factor gene DOID:5419 schizophrenia ISO RGD:734203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12280045 MIF macrophage migration inhibitory factor gene DOID:552 pneumonia severity ISO RGD:734203 D RGD:9068941 20210115 RGD DNA:repeats:promoter PMID:19346297|REF_RGD_ID:4891058 12280045 MIF macrophage migration inhibitory factor gene DOID:557 kidney disease ISO RGD:621163 D RGD:9068941 20210115 RGD associated with Hypercholesterolemia;mRNA:increased expression:glomerulus PMID:9158105|REF_RGD_ID:1641957 12280045 MIF macrophage migration inhibitory factor gene DOID:5844 myocardial infarction ISO RGD:621163 D RGD:9068941 20210115 RGD mRNA, protein:increased expression:myocardium PMID:12704210|REF_RGD_ID:1642003 12280045 MIF macrophage migration inhibitory factor gene DOID:5844 myocardial infarction ISO RGD:734203 D RGD:9068941 20210115 RGD protein:increased expression:plasma PMID:11589847|REF_RGD_ID:1642008 12280045 MIF macrophage migration inhibitory factor gene DOID:630 genetic disease ISO RGD:734203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280045 MIF macrophage migration inhibitory factor gene DOID:6432 pulmonary hypertension ISO RGD:734203 D RGD:9068941 20210115 RGD associated with sclerodema, systemic; protein:increased expression:serum PMID:18618071|REF_RGD_ID:4891006 12280045 MIF macrophage migration inhibitory factor gene DOID:7148 rheumatoid arthritis ISO RGD:734203 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:16872482 12280045 MIF macrophage migration inhibitory factor gene DOID:820 myocarditis onset ISO RGD:621163 D RGD:9068941 20210115 RGD PMID:15276025|REF_RGD_ID:1641993 12280045 MIF macrophage migration inhibitory factor gene DOID:850 lung disease ISO RGD:621163 D RGD:9068941 20210115 RGD acute lung injury PMID:9700137|REF_RGD_ID:4891023 12280045 MIF macrophage migration inhibitory factor gene DOID:850 lung disease ISO RGD:734203 D RGD:9068941 20210115 RGD acute lung injury; mRNA, protein:increased expression, increased secretion:Bronchoalveolar Lavage, serum PMID:17585860|REF_RGD_ID:4891012 12280045 MIF macrophage migration inhibitory factor gene DOID:850 lung disease ISO RGD:734204 D RGD:9068941 20210115 RGD acute lung injury; associated with pancreatitis and endotoxemia PMID:16574946|REF_RGD_ID:4891017 12280045 MIF macrophage migration inhibitory factor gene DOID:850 lung disease ISO RGD:734204 D RGD:9068941 20210115 RGD acute lung injury; mRNA, protein:increased expression, increased secretion:lung, serum PMID:17585860|REF_RGD_ID:4891012 12280045 MIF macrophage migration inhibitory factor gene DOID:9000039 Spinal Cord Injuries ISO RGD:621163 D RGD:9068941 20210115 RGD mRNA:increased expression:spinal cord, microglial cell PMID:15067555|REF_RGD_ID:1641997 12280045 MIF macrophage migration inhibitory factor gene DOID:9000058 Keloid ISO RGD:734203 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12280045 MIF macrophage migration inhibitory factor gene DOID:9000099 Experimental Colitis severity ISO RGD:734204 D RGD:9068941 20210115 RGD PMID:15807847|REF_RGD_ID:36947390 12280045 MIF macrophage migration inhibitory factor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:734203 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12280045 MIF macrophage migration inhibitory factor gene DOID:9000528 Coronary Disease ISO RGD:621163 D RGD:9068941 20210115 RGD coronary occlusion; mRNA:increased expression:myocardium PMID:20367970|REF_RGD_ID:4890973 12280045 MIF macrophage migration inhibitory factor gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:734204 D RGD:9068941 20210115 RGD PMID:17373669|REF_RGD_ID:4891035 12280045 MIF macrophage migration inhibitory factor gene DOID:9000808 Hypercholesterolemia ISO RGD:621163 D RGD:9068941 20210115 RGD mRNA:increased expression:glomerulus PMID:9158105|REF_RGD_ID:1641957 12280045 MIF macrophage migration inhibitory factor gene DOID:9000918 Disease Progression ISO RGD:734203 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34797429 12280045 MIF macrophage migration inhibitory factor gene DOID:9000998 Brain Injuries ISO RGD:621163 D RGD:9068941 20210115 RGD PMID:15922484|REF_RGD_ID:1641989 12280045 MIF macrophage migration inhibitory factor gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:621163 D RGD:9068941 20210115 RGD protein:increased expression:liver PMID:11798463|REF_RGD_ID:1642007 12280045 MIF macrophage migration inhibitory factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621163 D RGD:9068941 20210115 RGD protein:increased expression:hepatocyte PMID:14706927|REF_RGD_ID:1642000 12280045 MIF macrophage migration inhibitory factor gene DOID:9002019 Granuloma ISO RGD:621163 D RGD:9068941 20210115 RGD associated with Kidney Diseases PMID:11126199|REF_RGD_ID:1642009 12280045 MIF macrophage migration inhibitory factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:734203 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:17728788 12280045 MIF macrophage migration inhibitory factor gene DOID:9002457 Experimental Arthritis ISO RGD:621163 D RGD:9068941 20210115 RGD PMID:10765927|REF_RGD_ID:1642012 12280045 MIF macrophage migration inhibitory factor gene DOID:9002765 Systemic Juvenile Rheumatoid Arthritis ISO RGD:734203 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 12280045 MIF macrophage migration inhibitory factor gene DOID:9002765 Systemic Juvenile Rheumatoid Arthritis susceptibility ISO RGD:734203 D RGD:7240710 20230505 OMIM 12280045 MIF macrophage migration inhibitory factor gene DOID:9004009 Reperfusion Injury disease_progression ISO RGD:734204 D RGD:9068941 20210115 RGD PMID:18055556|REF_RGD_ID:4891010 12280045 MIF macrophage migration inhibitory factor gene DOID:9004484 Sepsis ISO RGD:734203 D RGD:9068941 20210115 CTD CTD Direct Evidence: therapeutic PMID:9892616 12280045 MIF macrophage migration inhibitory factor gene DOID:9004484 Sepsis ISO RGD:734203 D RGD:9068941 20210115 RGD protein:increased expression:serum PMID:17585860|REF_RGD_ID:4891012 12280045 MIF macrophage migration inhibitory factor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734203 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12280045 MIF macrophage migration inhibitory factor gene DOID:9005372 Inflammation ISO RGD:621163 D RGD:9068941 20210115 RGD PMID:16455830|REF_RGD_ID:1641985 12280045 MIF macrophage migration inhibitory factor gene DOID:9005372 Inflammation ISO RGD:734203 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:20127836 12280045 MIF macrophage migration inhibitory factor gene DOID:9005372 Inflammation ISO RGD:734204 D RGD:9068941 20210115 RGD PMID:17435771|REF_RGD_ID:1641949 12280045 MIF macrophage migration inhibitory factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734204 D RGD:9068941 20210115 RGD protein:increased expression:pancreatic islet PMID:15790730|REF_RGD_ID:1641951 12280045 MIF macrophage migration inhibitory factor gene DOID:9005930 Endotoxemia ISO RGD:621163 D RGD:9068941 20210115 RGD protein:increased expression:plasma PMID:16601957|REF_RGD_ID:1641983 12280045 MIF macrophage migration inhibitory factor gene DOID:9007096 Stroke ISO RGD:621163 D RGD:9068941 20210115 RGD mRNA,protein:increased expression:brain PMID:19131653|REF_RGD_ID:4890976 12280045 MIF macrophage migration inhibitory factor gene DOID:9007096 Stroke ISO RGD:734203 D RGD:9068941 20210115 RGD mRNA,protein:increased expression:leukocytes, mononuclear, plasma PMID:19131653|REF_RGD_ID:4890976 12280045 MIF macrophage migration inhibitory factor gene DOID:9007253 Hamartoma ISO RGD:734203 D RGD:9068941 20210115 RGD associated with lung disease; protein:increased expression:lung PMID:18074864|REF_RGD_ID:4891009 12280045 MIF macrophage migration inhibitory factor gene DOID:9007692 Insulin Resistance ISO RGD:734203 D RGD:9068941 20210115 RGD protein:increased expression:plasma PMID:12552367|REF_RGD_ID:1641955 12280045 MIF macrophage migration inhibitory factor gene DOID:9007730 Burns ISO RGD:621163 D RGD:9068941 20210115 RGD mRNA, protein:increased expression:liver, serum PMID:14625478|REF_RGD_ID:1642001 12280045 MIF macrophage migration inhibitory factor gene DOID:9007840 Chylothorax ISO RGD:734203 D RGD:9068941 20210115 RGD protein:increased expression:amniotic fluid PMID:17295350|REF_RGD_ID:4891014 12280045 MIF macrophage migration inhibitory factor gene DOID:9008023 Memory Disorders ISO RGD:734203 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:20177408 12280045 MIF macrophage migration inhibitory factor gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:734203 D RGD:9068941 20210115 RGD associated with carcinoma, non-small-cell lung; DNA:SNP: :rs755622(human) PMID:20811626|REF_RGD_ID:5131286 12280045 MIF macrophage migration inhibitory factor gene DOID:9008939 Breast Neoplasms ISO RGD:734203 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:19602265 12280045 MIF macrophage migration inhibitory factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:621163 D RGD:9068941 20210115 RGD mRNA, protein:increased expression:kidney cortex, epithelial cell PMID:16571782|REF_RGD_ID:1641984 12280045 MIF macrophage migration inhibitory factor gene DOID:9970 obesity ISO RGD:734203 D RGD:9068941 20210115 RGD DNA:polymorphisms:promoter PMID:16247506|REF_RGD_ID:1641950 12280045 MIF macrophage migration inhibitory factor gene DOID:9970 obesity ISO RGD:734203 D RGD:9068941 20210115 RGD mRNA, protein:increased expression:mononuclear cell, plasma PMID:15472203|REF_RGD_ID:1641953 12280056 PIP prolactin induced protein gene DOID:0050127 sinusitis ISO RGD:1351325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18391768 12280056 PIP prolactin induced protein gene DOID:630 genetic disease ISO RGD:1351325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280069 TMEM42 transmembrane protein 42 gene DOID:630 genetic disease ISO RGD:1348470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280076 RPS29 ribosomal protein S29 gene DOID:0111889 Diamond-Blackfan anemia 13 ISO RGD:734258 D RGD:7240710 20180130 OMIM 12280076 RPS29 ribosomal protein S29 gene DOID:0111889 Diamond-Blackfan anemia 13 ISO RGD:734258 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 13 PMID:24829207|PMID:25741868|PMID:28492532 12280076 RPS29 ribosomal protein S29 gene DOID:630 genetic disease ISO RGD:734258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280076 RPS29 ribosomal protein S29 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:734258 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12280076 RPS29 ribosomal protein S29 gene DOID:9562 primary ciliary dyskinesia ISO RGD:734258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12280083 TMEM214 transmembrane protein 214 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1606543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12280083 TMEM214 transmembrane protein 214 gene DOID:630 genetic disease ISO RGD:1606543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280083 TMEM214 transmembrane protein 214 gene DOID:9006836 Contracture ISO RGD:1606543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 12280104 OVCA2 OVCA2 serine hydrolase domain containing gene DOID:2394 ovarian cancer ISO RGD:1603916 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary PMID:8616839|REF_RGD_ID:2302168 12280104 OVCA2 OVCA2 serine hydrolase domain containing gene DOID:630 genetic disease ISO RGD:1603916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280110 CD164L2 CD164 molecule like 2 gene DOID:630 genetic disease ISO RGD:1603478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280128 TCFL5 transcription factor like 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1348705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12280128 TCFL5 transcription factor like 5 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1348705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12280128 TCFL5 transcription factor like 5 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1348705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12280128 TCFL5 transcription factor like 5 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1348705 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12280128 TCFL5 transcription factor like 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1348705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12280128 TCFL5 transcription factor like 5 gene DOID:12721 multiple epiphyseal dysplasia ISO RGD:1348705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant 12280128 TCFL5 transcription factor like 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1348705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12280128 TCFL5 transcription factor like 5 gene DOID:1826 epilepsy ISO RGD:1348705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 12280128 TCFL5 transcription factor like 5 gene DOID:630 genetic disease ISO RGD:1348705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280149 ATP5MJ ATP synthase membrane subunit j gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1352128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12280184 ZCCHC3 zinc finger CCHC-type containing 3 gene DOID:630 genetic disease ISO RGD:1352502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280184 ZCCHC3 zinc finger CCHC-type containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12280191 CALHM3 calcium homeostasis modulator 3 gene DOID:630 genetic disease ISO RGD:1347189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280197 SURF6 surfeit 6 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316549 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12280197 SURF6 surfeit 6 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1316549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12280197 SURF6 surfeit 6 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316549 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12280197 SURF6 surfeit 6 gene DOID:0081097 Rafiq syndrome ISO RGD:1316549 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12280197 SURF6 surfeit 6 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1316549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12280197 SURF6 surfeit 6 gene DOID:3652 Leigh disease ISO RGD:1316549 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12280197 SURF6 surfeit 6 gene DOID:630 genetic disease ISO RGD:1316549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280210 LONP2 lon peptidase 2, peroxisomal gene DOID:10283 prostate cancer ISO RGD:1605609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12280210 LONP2 lon peptidase 2, peroxisomal gene DOID:630 genetic disease ISO RGD:1605609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280210 LONP2 lon peptidase 2, peroxisomal gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32430360 12280210 LONP2 lon peptidase 2, peroxisomal gene DOID:9006459 BURATTI-HAREL SYNDROME ISO RGD:1605609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Buratti-Harel syndrome PMID:25741868|PMID:32430360 12280210 LONP2 lon peptidase 2, peroxisomal gene DOID:9008342 Johnson Munson Syndrome ISO RGD:1605609 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aphalangy of the hands and feet, hemivertebrae, and visceral malformations PMID:25741868 12280287 SLC26A8 solute carrier family 26 member 8 gene DOID:0050553 JMP syndrome ISO RGD:1347727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12280287 SLC26A8 solute carrier family 26 member 8 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1347727 D RGD:7240710 20180130 OMIM 12280287 SLC26A8 solute carrier family 26 member 8 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1347727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 3 PMID:23582645|PMID:25741868|PMID:28492532|PMID:34923715 12280287 SLC26A8 solute carrier family 26 member 8 gene DOID:5419 schizophrenia ISO RGD:1347727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12280287 SLC26A8 solute carrier family 26 member 8 gene DOID:630 genetic disease ISO RGD:1347727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280311 JAKMIP2 janus kinase and microtubule interacting protein 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605109 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12280311 JAKMIP2 janus kinase and microtubule interacting protein 2 gene DOID:1909 melanoma ISO RGD:1605109 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 12280311 JAKMIP2 janus kinase and microtubule interacting protein 2 gene DOID:630 genetic disease ISO RGD:1605109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280311 JAKMIP2 janus kinase and microtubule interacting protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12280311 JAKMIP2 janus kinase and microtubule interacting protein 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605109 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12280360 MRPL22 mitochondrial ribosomal protein L22 gene DOID:630 genetic disease ISO RGD:1319534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280373 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12280373 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12280373 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1312950 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:25741868 12280373 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:0080690 RASopathy ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12280373 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12280373 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:0111971 immunodeficiency 18 ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12280373 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:0111972 immunodeficiency 19 ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12280373 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:0111973 immunodeficiency 17 ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12280373 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:5419 schizophrenia ISO RGD:1312950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12280373 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:630 genetic disease ISO RGD:1312950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280373 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1312950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12280373 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:9004657 Weight Gain ISO RGD:1312950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12280373 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:9007661 Dwarfism ISO RGD:1312950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12280422 SLC9A6 solute carrier family 9 member A6 gene DOID:0060022 CD40 ligand deficiency ISO RGD:1352693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12280422 SLC9A6 solute carrier family 9 member A6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12280422 SLC9A6 solute carrier family 9 member A6 gene DOID:0060825 Christianson syndrome ISO RGD:1352693 D RGD:7240710 20180130 OMIM 12280422 SLC9A6 solute carrier family 9 member A6 gene DOID:0060825 Christianson syndrome ISO RGD:1352693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:16199547|PMID:17576681|PMID:18342287|PMID:18414213|PMID:19471312|PMID:19619532|PMID:20395263|PMID:21465648|PMID:24123876|PMID:24123890|PMID:25044251|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27256868|PMID:28492532|PMID:29588952|PMID:32581362|PMID:32776513|PMID:32860008|PMID:9536098 12280422 SLC9A6 solute carrier family 9 member A6 gene DOID:1059 intellectual disability ISO RGD:1352693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868|PMID:27256868|PMID:28492532 12280422 SLC9A6 solute carrier family 9 member A6 gene DOID:11782 astigmatism ISO RGD:1352693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astigmatism PMID:25741868 12280422 SLC9A6 solute carrier family 9 member A6 gene DOID:12849 autistic disorder ISO RGD:1352693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:25741868|PMID:30208311 12280422 SLC9A6 solute carrier family 9 member A6 gene DOID:630 genetic disease ISO RGD:1352693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:19471312|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27256868|PMID:28492532 12280422 SLC9A6 solute carrier family 9 member A6 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1352693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12280422 SLC9A6 solute carrier family 9 member A6 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1352693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12280422 SLC9A6 solute carrier family 9 member A6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 12280422 SLC9A6 solute carrier family 9 member A6 gene DOID:9008086 Developmental Disabilities ISO RGD:1352693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32581362|PMID:32860008 12280443 FOXH1 forkhead box H1 gene DOID:0050545 visceral heterotaxy ISO RGD:1322646 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 12280443 FOXH1 forkhead box H1 gene DOID:0060341 agnathia-otocephaly complex ISO RGD:1322646 D RGD:9068941 20220825 MouseDO OMIM:202650 12280443 FOXH1 forkhead box H1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1322645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12280443 FOXH1 forkhead box H1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1322645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12280443 FOXH1 forkhead box H1 gene DOID:4621 holoprosencephaly ISO RGD:1322645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:18538293|PMID:25741868|PMID:28492532 12280443 FOXH1 forkhead box H1 gene DOID:630 genetic disease ISO RGD:1322645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12280443 FOXH1 forkhead box H1 gene DOID:6419 tetralogy of Fallot ISO RGD:1322645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25093829 12280443 FOXH1 forkhead box H1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1322645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conotruncal defect PMID:25741868|PMID:32003456 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:731036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:33200460 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:0050700 cardiomyopathy ISO RGD:731036 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17008600 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:0050852 limb ischemia treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:26604244|REF_RGD_ID:13514042 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:1059 intellectual disability ISO RGD:731036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:10762 portal hypertension ISO RGD:2062 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell, liver sinusoid PMID:16142243|REF_RGD_ID:1580269 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:10762 portal hypertension treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:25469036|REF_RGD_ID:13514048 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:10763 hypertension ISO RGD:2062 D RGD:9068941 20200609 RGD protein:increased expression:lymphocyte, vascular associated smooth muscle cell PMID:10642272|REF_RGD_ID:1625788 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:10763 hypertension ISO RGD:731036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11901213 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:10763 hypertension treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:23913704|REF_RGD_ID:13792716 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:1287 cardiovascular system disease ISO RGD:731036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26032411 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:14115 toxic shock syndrome ISO RGD:731036 D RGD:9068941 20210507 RGD mRNA:decreased expression:polymorphonuclear leukocyte PMID:24465168|REF_RGD_ID:126848796 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:14330 Parkinson's disease ISO RGD:2062 D RGD:9068941 20200609 RGD Protein: decreased expression: brain PMID:17996024|REF_RGD_ID:5685370 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:1875 impotence ISO RGD:2062 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:30226217|REF_RGD_ID:13792691 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:3042 allergic contact dermatitis ISO RGD:731036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:3829 pituitary adenoma ISO RGD:731036 D RGD:9068941 20200609 RGD mRNA:altered expression:pituitary gland (human) PMID:24169548|REF_RGD_ID:13792706 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:4195 hyperglycemia ISO RGD:2062 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16478977|REF_RGD_ID:1625789 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:5082 liver cirrhosis ISO RGD:731036 D RGD:9068941 20200609 RGD associated with hepatitis B;protein:increased expression:mesenteric artery (human) PMID:23742775|REF_RGD_ID:13792718 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:6000 congestive heart failure ISO RGD:10111 D RGD:9068941 20200609 RGD PMID:11331748|REF_RGD_ID:737776 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:6000 congestive heart failure ISO RGD:2062 D RGD:9068941 20200609 RGD associated with Hypertrophy, Left Ventricular and Hypertension;protein:increased expression, increased activity:heart left ventricle, cytosol (rat) PMID:9931137|REF_RGD_ID:1625790 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:6000 congestive heart failure ISO RGD:731036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:6000 congestive heart failure ISO RGD:731036 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:26248277|REF_RGD_ID:11535540 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:6000 congestive heart failure treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:29247373|REF_RGD_ID:13506830 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:630 genetic disease ISO RGD:731036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:10111 D RGD:9068941 20200609 RGD DNA: deletion: : heterozygous PMID:18662895|REF_RGD_ID:5688373 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:731036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10094932 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:731036 D RGD:9068941 20200609 RGD protein: decreased expression: mononuclear leukocytes PMID:10094932|REF_RGD_ID:5688380 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:874 bacterial pneumonia ISO RGD:731036 D RGD:9068941 20210507 RGD mRNA:decreased expression:polymorphonuclear leukocyte PMID:24465168|REF_RGD_ID:126848796 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9000352 Vascular System Injuries ISO RGD:2062 D RGD:9068941 20200609 RGD protein:increased expression:aorta (rat) PMID:28653218|REF_RGD_ID:13513975 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2062 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:17256744|REF_RGD_ID:1625784 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:23196710|REF_RGD_ID:13792785 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9002211 Hyperalgesia severity ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:22796071|REF_RGD_ID:13792780 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:26064176|REF_RGD_ID:13514046 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2062 D RGD:9068941 20200609 RGD associated with Complex Regional Pain Syndromes PMID:25466829|REF_RGD_ID:13514049 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2062 D RGD:9068941 20200609 RGD associated with bone cancer PMID:26935064|REF_RGD_ID:13513996 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:30024944|REF_RGD_ID:13792695 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9002457 Experimental Arthritis ISO RGD:2062 D RGD:9068941 20200609 RGD protein:increased expression:aorta (rat) PMID:28653218|REF_RGD_ID:13513975 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9002457 Experimental Arthritis disease_progression ISO RGD:2062 D RGD:9068941 20200609 RGD protein:altered expression:T cell (rat) PMID:28349925|REF_RGD_ID:13513979 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:28631356|REF_RGD_ID:13513976 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:731036 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9003936 Cardiomegaly ISO RGD:10111 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle (mouse) PMID:23969695|REF_RGD_ID:13792712 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9003936 Cardiomegaly ISO RGD:731036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11901213 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9003936 Cardiomegaly severity ISO RGD:10111 D RGD:9068941 20200609 RGD PMID:25982117|REF_RGD_ID:11052788 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9004484 Sepsis ISO RGD:731036 D RGD:9068941 20200609 RGD protein: increased expression: neutrophils PMID:16849637|REF_RGD_ID:5688378 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:10111 D RGD:9068941 20200609 RGD PMID:9618528|REF_RGD_ID:737775 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:731036 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:lymphocyte PMID:15097244|REF_RGD_ID:1625786 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9004616 Left Ventricular Hypertrophy severity ISO RGD:10111 D RGD:9068941 20200609 RGD PMID:28759639|REF_RGD_ID:13513977 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:26224342|REF_RGD_ID:11534182 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9004994 Embryo Loss ISO RGD:731036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17008600 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731036 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex (human) PMID:23727505|REF_RGD_ID:13792719 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9005835 Congenital Abnormalities ISO RGD:731036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17008600 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9005968 Neuralgia treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:24216329|REF_RGD_ID:13792703 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:2062 D RGD:9068941 20200609 RGD protein:increased activity:heart right ventricel (rat) PMID:23124027|REF_RGD_ID:13792786 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9006202 Pruritus severity ISO RGD:10111 D RGD:9068941 20200609 RGD PMID:29530536|REF_RGD_ID:13513974 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9007692 Insulin Resistance ISO RGD:10111 D RGD:9068941 20200609 RGD PMID:15994203|REF_RGD_ID:1625791 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9007730 Burns ISO RGD:2062 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle (rat) PMID:29232706|REF_RGD_ID:13506829 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:10111 D RGD:9068941 20200609 RGD protein:increased expression:heart, mitochondrion (mouse) PMID:23467820|REF_RGD_ID:13792779 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury severity ISO RGD:10111 D RGD:9068941 20200609 RGD PMID:24170934|REF_RGD_ID:13792704 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury susceptibility ISO RGD:10111 D RGD:9068941 20200609 RGD PMID:27601479|REF_RGD_ID:13513993 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2062 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:27865836|REF_RGD_ID:13513990 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2062 D RGD:9068941 20200609 RGD associated with Hypertension PMID:27296507|REF_RGD_ID:13513995 12280453 GRK2 G protein-coupled receptor kinase 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:731036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12280480 CYB561A3 cytochrome b561 family member A3 gene DOID:0050777 Joubert syndrome ISO RGD:1350964 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 12280480 CYB561A3 cytochrome b561 family member A3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350964 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12280480 CYB561A3 cytochrome b561 family member A3 gene DOID:1059 intellectual disability ISO RGD:1350964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12280480 CYB561A3 cytochrome b561 family member A3 gene DOID:630 genetic disease ISO RGD:1350964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:0080855 Parkinsonism ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:19368990|REF_RGD_ID:4891964 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:0081267 graft-versus-host disease severity ISO RGD:1352124 D RGD:9068941 20200609 RGD PMID:17264819|REF_RGD_ID:4892014 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:0110024 age related macular degeneration 12 ISO RGD:1352124 D RGD:7240710 20180130 OMIM 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:10754 otitis media susceptibility ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.T280M (human) PMID:24718616|REF_RGD_ID:9491764 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:10762 portal hypertension ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:21347560|REF_RGD_ID:9491791 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:11382 corneal neovascularization ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:18322241|REF_RGD_ID:9365153 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:11446 sciatic neuropathy ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:20524966|REF_RGD_ID:9354422 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:11446 sciatic neuropathy ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:15341587|REF_RGD_ID:1358720 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:11446 sciatic neuropathy treatment ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:20921832|REF_RGD_ID:9491396 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:11563 retinal vasculitis ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotypes:cds:p.V249I, p.T280M (human) PMID:16799040|REF_RGD_ID:9491394 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:16424189|REF_RGD_ID:4892016 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:12941892|REF_RGD_ID:4892018 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:13141 uveitis ISO RGD:620137 D RGD:9068941 20200609 RGD associated with Endotoxemia;mRNA, protein:increased expression:retina PMID:19648777|REF_RGD_ID:4891945 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:1556 arthus reaction ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:23470165|REF_RGD_ID:9068463 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:1679 cystitis ISO RGD:620137 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder urothelium PMID:16651033|REF_RGD_ID:4891972 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:1686 glaucoma ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:24989686|REF_RGD_ID:9384823 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:1824 status epilepticus treatment ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:21481949|REF_RGD_ID:9491789 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:1936 atherosclerosis ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:23887641|REF_RGD_ID:9479739 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:224 transient cerebral ischemia ISO RGD:620137 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus PMID:24447880|REF_RGD_ID:9491776 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:2349 arteriosclerosis ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:12600915|REF_RGD_ID:4891900 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:2527 nephrosis ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:19590241|REF_RGD_ID:4891946 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:2841 asthma ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:SNPs: :p.V249I, rs2669849 (human) PMID:17082760|REF_RGD_ID:4891895 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:2841 asthma ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:21037587|REF_RGD_ID:4891882 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:2841 asthma no_association ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.V249I, p.T280M (human) PMID:17505143|REF_RGD_ID:4891904 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:2921 glomerulonephritis ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:10432400|REF_RGD_ID:4892027 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:2921 glomerulonephritis ISO RGD:620137 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:14605272|REF_RGD_ID:4891995 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:3310 atopic dermatitis ISO RGD:1352124 D RGD:9068941 20200609 RGD protein:decreased expression:blood, leukocyte PMID:15131578|REF_RGD_ID:9491761 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:3310 atopic dermatitis ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:24821910|REF_RGD_ID:9491393 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:3612 retinitis ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:24142887|REF_RGD_ID:8661224 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:418 systemic scleroderma ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.V249I, p.T280M (human) PMID:16584113|REF_RGD_ID:4891896 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:418 systemic scleroderma ISO RGD:1352124 D RGD:9068941 20200609 RGD protein:increased expression:lung, skin PMID:15608300|REF_RGD_ID:4891898 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:418 systemic scleroderma ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:23142052|REF_RGD_ID:9479741 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:4448 macular degeneration ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:17652758|REF_RGD_ID:9491385 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:4448 macular degeneration ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.T280M (human) PMID:15944936|REF_RGD_ID:9479078 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:4448 macular degeneration ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V249I (human) PMID:22816662|REF_RGD_ID:9491395 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:4448 macular degeneration ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.V249I, p.T280M (human) PMID:15208270|REF_RGD_ID:9491390 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:4448 macular degeneration no_association ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.T280M (human) PMID:22816662|REF_RGD_ID:9491395 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:4448 macular degeneration no_association ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.V249I, p.T280M (rs3732379, rs3732378) (human) PMID:25050486|REF_RGD_ID:9491392 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:620137 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus PMID:19590241|REF_RGD_ID:4891946 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:4992 optic nerve glioma onset ISO RGD:1552004 D RGD:9068941 20200609 RGD associated with Neurofibromatosis 1 PMID:23424002|REF_RGD_ID:9491391 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:5154 borna disease ISO RGD:620137 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:12053272|REF_RGD_ID:4891998 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1352124 D RGD:7240710 20230505 OMIM 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:6000 congestive heart failure ISO RGD:620137 D RGD:9068941 20200609 RGD mRNA, protein:increased expression: paraventricular nucleus of hypothalamus PMID:24036597|REF_RGD_ID:9491792 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:6195 conjunctivitis ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:22692452|REF_RGD_ID:9491751 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:630 genetic disease ISO RGD:1352124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:1352124 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;DNA:polymorphisms: :p.V249I, p.T280M (human) PMID:16584113|REF_RGD_ID:4891896 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:620137 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:17182651|REF_RGD_ID:4891893 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:649 prion disease ISO RGD:620137 D RGD:9068941 20200609 RGD protein:increased expression:microglial cell PMID:11870871|REF_RGD_ID:4892001 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:8466 retinal degeneration ISO RGD:1352124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20361964 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:8466 retinal degeneration ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:22545116|REF_RGD_ID:9479077 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:8893 psoriasis ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:SNP, missense mutation:intron, cds: , p.T280M (human) PMID:17002687|REF_RGD_ID:9491384 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:900 hepatopulmonary syndrome treatment ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:22659346|REF_RGD_ID:9491778 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9000528 Coronary Disease ISO RGD:1352124 D RGD:7240710 20230505 OMIM 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9000528 Coronary Disease ISO RGD:1352124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary heart disease, susceptibility to, 1 PMID:25741868 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9000641 Pain ISO RGD:620137 D RGD:9068941 20200609 RGD associated with Bone Neoplasms PMID:20736819|REF_RGD_ID:4892020 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9000965 Neoplasm Metastasis susceptibility ISO RGD:1352124 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:16627550|REF_RGD_ID:4892015 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9001341 Chloracne ISO RGD:1352124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:20609517|REF_RGD_ID:4891885 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:1552004 D RGD:9068941 20200609 RGD associated with Inflammation PMID:20524966|REF_RGD_ID:9354422 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:16324111|REF_RGD_ID:9387859 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:620137 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental;protein:increased expression:lumbar spinal cord PMID:22647647|REF_RGD_ID:9491779 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:620137 D RGD:9068941 20200609 RGD associated with Bone Neoplasms PMID:20736819|REF_RGD_ID:4892020 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:620137 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:19959384|REF_RGD_ID:4891942 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:11465708|REF_RGD_ID:4892002 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:620137 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:17123734|REF_RGD_ID:4891969 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:16053521|PMID:24706865|REF_RGD_ID:4891973|REF_RGD_ID:9491767 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:22377584|REF_RGD_ID:8661752 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9004484 Sepsis ISO RGD:1352124 D RGD:9068941 20200609 RGD protein:increased expression:lung, macrophage PMID:19733456|REF_RGD_ID:4144897 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9004538 Hearing Loss ISO RGD:1552004 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cochlea PMID:24781382|REF_RGD_ID:9491762 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9005070 Microscopic Polyangiitis ISO RGD:1352124 D RGD:9068941 20200609 RGD protein:increased expression:blood, T cell PMID:19327232|REF_RGD_ID:9491765 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9005372 Inflammation ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:23299473|REF_RGD_ID:9375525 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9005372 Inflammation ISO RGD:620137 D RGD:9068941 20200609 RGD associated with Temporomandibular Joint Disorders PMID:23110394|REF_RGD_ID:9491768 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9005396 Intimal Hyperplasia ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:20836883|REF_RGD_ID:8661636 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620137 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:15153757|REF_RGD_ID:4891992 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:19689733|REF_RGD_ID:9491397 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:16030495|REF_RGD_ID:9479740 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9005665 Chronic Mesangial Proliferative Glomerulonephritis ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:12028445|REF_RGD_ID:9491783 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:620137 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:21224760|REF_RGD_ID:4891907 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:18448252|REF_RGD_ID:4891968 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1352124 D RGD:9068941 20200609 RGD PMID:18257903|REF_RGD_ID:4891891 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:SNP: :p.T280M (human) PMID:16645504|REF_RGD_ID:4891905 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1352124 D RGD:9068941 20200609 RGD protein:decreased expression:blood, monocyte PMID:15786508|REF_RGD_ID:4892017 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9008023 Memory Disorders ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:23855980|REF_RGD_ID:9491766 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1352124 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell PMID:21180278|REF_RGD_ID:6893428 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9351 diabetes mellitus ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:23307960|REF_RGD_ID:9491759 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9477 pulmonary embolism treatment ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:23578461|REF_RGD_ID:9491777 12280501 CX3CR1 C-X3-C motif chemokine receptor 1 gene DOID:9970 obesity ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:SNP: :p.T280M (human) PMID:20523302|REF_RGD_ID:4891903 12280515 DEDD death effector domain containing gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:731723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12280515 DEDD death effector domain containing gene DOID:1540 parathyroid carcinoma ISO RGD:731723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12280515 DEDD death effector domain containing gene DOID:630 genetic disease ISO RGD:731723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280515 DEDD death effector domain containing gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12280528 HES3 hes family bHLH transcription factor 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604433 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12280528 HES3 hes family bHLH transcription factor 3 gene DOID:630 genetic disease ISO RGD:1604433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280528 HES3 hes family bHLH transcription factor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12280535 AIDA axin interactor, dorsalization associated gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1603969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12280535 AIDA axin interactor, dorsalization associated gene DOID:0080600 COVID-19 ISO RGD:1603969 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12280535 AIDA axin interactor, dorsalization associated gene DOID:1540 parathyroid carcinoma ISO RGD:1603969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12280535 AIDA axin interactor, dorsalization associated gene DOID:630 genetic disease ISO RGD:1603969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280535 AIDA axin interactor, dorsalization associated gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12280535 AIDA axin interactor, dorsalization associated gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12280549 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:0050770 polycystic liver disease ISO RGD:1342764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:25741868|PMID:26467025|PMID:27391121|PMID:28492532|PMID:31395617 12280549 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:0080322 polycystic kidney disease ISO RGD:1342764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:31395617 12280549 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1342764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 12280549 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:1342764 D RGD:7240710 20180130 OMIM 12280549 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:1342764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il PMID:15148656|PMID:15945070|PMID:16199547|PMID:17576681|PMID:25741868|PMID:25966638|PMID:26453364|PMID:26467025|PMID:27391121|PMID:28492532|PMID:31395617|PMID:35839600|PMID:9536098 12280549 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1342764 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 12280549 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:1059 intellectual disability ISO RGD:1342764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12280549 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:12704 ataxia telangiectasia ISO RGD:1342764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12280549 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1342764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 12280549 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:630 genetic disease ISO RGD:1342764 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12280549 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:9001306 Gillessen-Kaesbach-Nishimura Dysplasia ISO RGD:1342764 D RGD:7240710 20190315 OMIM 12280549 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:9001306 Gillessen-Kaesbach-Nishimura Dysplasia ISO RGD:1342764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE, WITH MICROBRACHYCEPHALY, HYPERTELORISM, AND BRACHYMELIA PMID:25741868|PMID:25966638|PMID:26467025|PMID:27391121|PMID:28492532|PMID:31395617 12280549 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1342764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease PMID:25741868|PMID:26467025|PMID:27391121|PMID:28492532|PMID:31395617 12280549 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1342764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12280549 ALG9 ALG9 alpha-1,2-mannosyltransferase gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1342764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 12280577 DMRT3 doublesex and mab-3 related transcription factor 3 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1314434 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12280577 DMRT3 doublesex and mab-3 related transcription factor 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:1314434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12280577 DMRT3 doublesex and mab-3 related transcription factor 3 gene DOID:630 genetic disease ISO RGD:1314434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280581 OR1K1 olfactory receptor family 1 subfamily K member 1 gene DOID:630 genetic disease ISO RGD:1352434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280588 TCERG1L transcription elongation regulator 1 like gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1346689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12280588 TCERG1L transcription elongation regulator 1 like gene DOID:630 genetic disease ISO RGD:1346689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280588 TCERG1L transcription elongation regulator 1 like gene DOID:9008443 Colorectal Neoplasms ISO RGD:1346689 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 12280604 ACOX2 acyl-CoA oxidase 2 gene DOID:0111067 congenital bile acid synthesis defect 6 ISO RGD:735528 D RGD:7240710 20190315 OMIM 12280604 ACOX2 acyl-CoA oxidase 2 gene DOID:0111067 congenital bile acid synthesis defect 6 ISO RGD:735528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 6 PMID:25741868|PMID:27647924|PMID:27884763|PMID:28492532 12280604 ACOX2 acyl-CoA oxidase 2 gene DOID:630 genetic disease ISO RGD:735528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12280604 ACOX2 acyl-CoA oxidase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735528 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12280604 ACOX2 acyl-CoA oxidase 2 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:735528 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 12280677 HS3ST1 heparan sulfate-glucosamine 3-sulfotransferase 1 gene DOID:2349 arteriosclerosis ISO RGD:731446 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arteriosclerosis PMID:15266341|PMID:15965027|PMID:16024819|PMID:16410828|PMID:17179217|PMID:17558387|PMID:17568005|PMID:19122651|PMID:19303047|PMID:19858363|PMID:21152010|PMID:22090374|PMID:28126521 12280677 HS3ST1 heparan sulfate-glucosamine 3-sulfotransferase 1 gene DOID:3393 coronary artery disease ISO RGD:731446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease PMID:15266341|PMID:15965027|PMID:16024819|PMID:16410828|PMID:17179217|PMID:17558387|PMID:17568005|PMID:19122651|PMID:19303047|PMID:19858363|PMID:21152010|PMID:22090374|PMID:28126521 12280677 HS3ST1 heparan sulfate-glucosamine 3-sulfotransferase 1 gene DOID:630 genetic disease ISO RGD:731446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280686 ATOX1 antioxidant 1 copper chaperone gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:737338 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12280686 ATOX1 antioxidant 1 copper chaperone gene DOID:10763 hypertension ISO RGD:737338 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22753205 12280686 ATOX1 antioxidant 1 copper chaperone gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:732672 D RGD:9068941 20200609 RGD protein:increased expression:spinal chord PMID:19656261|REF_RGD_ID:13524567 12280686 ATOX1 antioxidant 1 copper chaperone gene DOID:630 genetic disease ISO RGD:737338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280686 ATOX1 antioxidant 1 copper chaperone gene DOID:9005172 Lung Neoplasms ISO RGD:737338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23624903 12280686 ATOX1 antioxidant 1 copper chaperone gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737338 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12280686 ATOX1 antioxidant 1 copper chaperone gene DOID:9008443 Colorectal Neoplasms ISO RGD:737338 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31961892 12280686 ATOX1 antioxidant 1 copper chaperone gene DOID:9008510 Chronic Hepatitis ISO RGD:737338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0050534 congenital stationary night blindness ISO RGD:1319792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:12515255|PMID:28041643 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1319792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29207047 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0050572 cone-rod dystrophy ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:10090887|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11444963|PMID:11527935|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15192030|PMID:15494742|PMID:15516930|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22264887|PMID:22312191|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24453473|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26247787|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:27014590|PMID:27535533|PMID:27628848|PMID:27739528|PMID:27820952|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30718709|PMID:31015497|PMID:31212395|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31736247|PMID:31814694|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32619608|PMID:32717343|PMID:32783370|PMID:33223529|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0050664 Bietti crystalline corneoretinal dystrophy ISO RGD:1319792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy | ClinVar Annotator: match by term: Bietti tapetoretinal degeneration with marginal corneal dystrophy PMID:10958761|PMID:23755871|PMID:24938718|PMID:25312043|PMID:25741868|PMID:26780318|PMID:28041643|PMID:28492532|PMID:29186038|PMID:30718709|PMID:33546218|PMID:9054934 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0050795 cone dystrophy ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:10880298|PMID:10958761|PMID:16103129|PMID:20335603|PMID:22427542|PMID:22968130|PMID:23134348|PMID:23755871|PMID:23940504|PMID:24265693|PMID:24938718|PMID:25312043|PMID:25346251|PMID:25474345|PMID:25525159|PMID:25698705|PMID:25741868|PMID:26593885|PMID:26780318|PMID:28041643|PMID:28118664|PMID:28224992|PMID:28341476|PMID:28492532|PMID:30060493|PMID:30190494|PMID:30718709|PMID:31522899|PMID:31736247|PMID:32783370|PMID:33546218|PMID:9054934|PMID:9973280 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0050817 Stargardt disease ISO RGD:1319792 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10509673|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10746567|PMID:10874631|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11379881|PMID:11385708|PMID:11527935|PMID:11673412|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11818392|PMID:11846518|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12202497|PMID:12515255|PMID:12592048|PMID:12796258|PMID:12962493|PMID:14517951|PMID:14709597|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:16917483|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17893657|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18334942|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19339744|PMID:19365591|PMID:20029649|PMID:20108432|PMID:20128570|PMID:20335603|PMID:20404325|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22076985|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22395892|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22863181|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23134348|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23424971|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24020726|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24342785|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24550365|PMID:24585425|PMID:24632595|PMID:24713488|PMID:24743636|PMID:24763286|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097154|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25326637|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25412400|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25884411|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26024099|PMID:26047050|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26377081|PMID:26527198|PMID:26551331|PMID:26593885|PMID:26720470|PMID:26764160|PMID:26766544|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27032803|PMID:27353947|PMID:27367509|PMID:27535533|PMID:27699414|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28118664|PMID:28130426|PMID:28166811|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28771251|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29343940|PMID:29422768|PMID:29461686|PMID:29526278|PMID:29555955|PMID:29641573|PMID:29847635|PMID:29847639|PMID:29847651|PMID:29848554|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30029497|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30337596|PMID:30480703|PMID:30576320|PMID:30643219|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30834176|PMID:30945053|PMID:31129250|PMID:31144483|PMID:31456290|PMID:31576780|PMID:31614660|PMID:31618761|PMID:31814693|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32307445|PMID:32619608|PMID:32783370|PMID:32845068|PMID:33090715|PMID:33223529|PMID:33301772|PMID:33375396|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0050817 Stargardt disease ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10509673|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10746567|PMID:10874631|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11673412|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11818392|PMID:11846518|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12202497|PMID:12515255|PMID:12592048|PMID:12796258|PMID:12962493|PMID:14517951|PMID:14709597|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:16917483|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17893657|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18334942|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19339744|PMID:19365591|PMID:20029649|PMID:20108432|PMID:20128570|PMID:20335603|PMID:20404325|PMID:20647261|PMID:20696155|PMID:20801516|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22076985|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22395892|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22863181|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23134348|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23424971|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24020726|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24342785|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24550365|PMID:24585425|PMID:24632595|PMID:24713488|PMID:24743636|PMID:24763286|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097154|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25412400|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25884411|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26024099|PMID:26047050|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26377081|PMID:26527198|PMID:26551331|PMID:26593885|PMID:26720470|PMID:26743751|PMID:26764160|PMID:26780318|PMID:26872967|PMID:26976702|PMID:26992781|PMID:27014590|PMID:27030965|PMID:27032803|PMID:27353947|PMID:27367509|PMID:27535533|PMID:27699414|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28771251|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29178665|PMID:29186038|PMID:29310964|PMID:29343940|PMID:29422768|PMID:29461686|PMID:29526278|PMID:29555955|PMID:29625472|PMID:29641573|PMID:29847635|PMID:29847639|PMID:29847651|PMID:29848554|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30029497|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30337596|PMID:30480703|PMID:30576320|PMID:30578500|PMID:30643219|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30820146|PMID:30834176|PMID:30903310|PMID:30945053|PMID:31129250|PMID:31144483|PMID:31212395|PMID:31213501|PMID:31318848|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31543898|PMID:31576780|PMID:31614660|PMID:31618761|PMID:31630094|PMID:31736247|PMID:31766579|PMID:31814693|PMID:31814694|PMID:31884623|PMID:31934596|PMID:31968401|PMID:32036094|PMID:32141364|PMID:32235935|PMID:32278709|PMID:32307445 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0050817 Stargardt disease ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease PMID:32531858|PMID:32581362|PMID:32619608|PMID:32627976|PMID:32717343|PMID:32783370|PMID:32821503|PMID:32845050|PMID:32845068|PMID:33090715|PMID:33223529|PMID:33261146|PMID:33301772|PMID:33375396|PMID:33546218|PMID:33732702|PMID:34008892|PMID:34214897|PMID:35608843|PMID:8533764|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0110015 age related macular degeneration 2 ISO RGD:1319792 D RGD:7240710 20180130 OMIM 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0110015 age related macular degeneration 2 ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 2 | ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 2 PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12592048|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18334942|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19365591|PMID:20029649|PMID:20128570|PMID:20404325|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23953153|PMID:23982839|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24342785|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24550365|PMID:24585425|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25412400|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27032803|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28355279|PMID:28365912|PMID:28446513|PMID:28492532|PMID:28559085|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29162642|PMID:29178665|PMID:29186038|PMID:29310964|PMID:29422768|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29847651|PMID:29848554|PMID:29854428|PMID:29925512|PMID:29971439|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30337596|PMID:30480703|PMID:30576320|PMID:30643219|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30834176|PMID:30945053|PMID:31212395|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31614660|PMID:31618761|PMID:31766579|PMID:32036094|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32619608|PMID:32821503|PMID:33223529|PMID:33375396|PMID:33546218|PMID:34008892|PMID:34214897|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0110026 age related macular degeneration 14 ISO RGD:1319792 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF PMID:10090887|PMID:10612508|PMID:10634594|PMID:10880298|PMID:11017087|PMID:11444963|PMID:11726554|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:15516930|PMID:16400609|PMID:18285826|PMID:18977788|PMID:19217903|PMID:20981092|PMID:22264887|PMID:22589445|PMID:23144455|PMID:23695285|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24409374|PMID:24713488|PMID:25082885|PMID:25097241|PMID:25283059|PMID:25333069|PMID:25741868|PMID:26247787|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28446513|PMID:28492532|PMID:29925512|PMID:30718709|PMID:31522899|PMID:32278709|PMID:32531858|PMID:9054934|PMID:9973280 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0110354 retinitis pigmentosa 19 ISO RGD:1319792 D RGD:7240710 20180130 OMIM 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0110354 retinitis pigmentosa 19 ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 19 PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10874631|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11846518|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12592048|PMID:12796258|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:17277736|PMID:17296903|PMID:17576681|PMID:17724221|PMID:18024811|PMID:18285826|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19074458|PMID:19217903|PMID:19265867|PMID:19365591|PMID:20128570|PMID:20554613|PMID:20696155|PMID:20981092|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22395892|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22968130|PMID:23105016|PMID:23134348|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23953153|PMID:23982839|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24265693|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24585425|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25356976|PMID:25412400|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27032803|PMID:27353947|PMID:27535533|PMID:27583828|PMID:27775217|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28341476|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29422768|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29847651|PMID:29854428|PMID:29925512|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30337596|PMID:30576320|PMID:30578500|PMID:30670881|PMID:30718709|PMID:30834176|PMID:31212395|PMID:31213501|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31766579|PMID:32235935|PMID:32278709|PMID:32531858|PMID:32619608|PMID:32821503|PMID:33223529|PMID:33546218|PMID:34008892|PMID:34214897|PMID:9054934|PMID:9070931|PMID:9295268|PMID:92952680|PMID:9425888|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0111000 Joubert syndrome 5 ISO RGD:1319792 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joubert syndrome 5 PMID:10958763|PMID:11017087|PMID:12037008|PMID:12796258|PMID:16103129|PMID:18285826|PMID:19074458|PMID:19217903|PMID:20696155|PMID:21786275|PMID:22025579|PMID:22264887|PMID:22312191|PMID:22427542|PMID:22661473|PMID:23755871|PMID:23769331|PMID:24033266|PMID:24265693|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25921964|PMID:26527198|PMID:26593885|PMID:26780318|PMID:27535533|PMID:28041643|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28327576|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30060493|PMID:30718709|PMID:31522899|PMID:33223529|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9973280 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0111013 cone-rod dystrophy 3 ISO RGD:1319792 D RGD:7240710 20180130 OMIM 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:0111013 cone-rod dystrophy 3 ISO RGD:1319792 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 3 PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10509673|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11673412|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12592048|PMID:12796258|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19074458|PMID:19217903|PMID:19265867|PMID:19365591|PMID:20029649|PMID:20128570|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22968130|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24265693|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24632595|PMID:24713488|PMID:24763286|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097154|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25356976|PMID:25412400|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26047050|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27032803|PMID:27535533|PMID:27583828|PMID:27596865|PMID:27775217|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28355279|PMID:28446513|PMID:28492532|PMID:28559085|PMID:28947085|PMID:29114839|PMID:29162642|PMID:29178665|PMID:29186038|PMID:29310964|PMID:29343940|PMID:29422768|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29847639|PMID:29847651|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30060493|PMID:30093795|PMID:30337596|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:30820146|PMID:30834176|PMID:30902645|PMID:31129250|PMID:31212395|PMID:31318848|PMID:31522899|PMID:31576780|PMID:31766579|PMID:32141364|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32619608|PMID:32821503|PMID:32845050|PMID:33090715|PMID:33223529|PMID:33375396|PMID:33546218|PMID:34008892|PMID:34214897|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1319792 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090887|PMID:10206579|PMID:10396622|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17325136|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28118664|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:31015497|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32307445|PMID:32619608|PMID:33223529|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1319792 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090887|PMID:10206579|PMID:10396622|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17325136|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28118664|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:31015497|PMID:31213501|PMID:31456290|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32307445|PMID:32619608|PMID:33223529|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1319792 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090887|PMID:10206579|PMID:10396622|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17325136|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28118664|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:31015497|PMID:31213501|PMID:31456290|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32307445|PMID:32531858|PMID:32619608|PMID:33223529|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090887|PMID:10206579|PMID:10396622|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27628848|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:30902645|PMID:31015497|PMID:31213501|PMID:31456290|PMID:31522899|PMID:31736247|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32413971|PMID:32531858|PMID:32619608|PMID:32783370|PMID:32845050|PMID:33223529|PMID:33375396|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1319792 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090887|PMID:10206579|PMID:10396622|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27628848|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29847651|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:30902645|PMID:31015497|PMID:31213501|PMID:31456290|PMID:31522899|PMID:31736247|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32413971|PMID:32531858|PMID:32619608|PMID:32783370|PMID:32845050|PMID:33223529|PMID:33375396|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:1319792 D RGD:9068941 20200609 RGD PMID:9466990|REF_RGD_ID:1598552 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:10871 age related macular degeneration ISO RGD:1319792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Age-related macular degeneration | ClinVar Annotator: match by term: MACULAR DEGENERATION, SENILE | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12592048|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18334942|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19365591|PMID:20029649|PMID:20128570|PMID:20404325|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23953153|PMID:23982839|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24342785|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24585425|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25412400|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27032803|PMID:27367509|PMID:27535533|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28355279|PMID:28365912|PMID:28446513|PMID:28492532|PMID:28559085|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29422768|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29847651|PMID:29848554|PMID:29854428|PMID:29925512|PMID:29971439|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30337596|PMID:30480703|PMID:30576320|PMID:30643219|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30834176|PMID:30945053|PMID:31212395|PMID:31522899|PMID:31576780|PMID:31614660|PMID:31618761|PMID:31766579|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32619608|PMID:32821503|PMID:33223529|PMID:33375396|PMID:33546218|PMID:34008892|PMID:34214897|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:1242 globe disease ISO RGD:1319792 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Globe disease PMID:11527935|PMID:24265693|PMID:25741868|PMID:28118664|PMID:28492532|PMID:29925512|PMID:33546218 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:1432 blindness ISO RGD:1319792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blindness PMID:10958761|PMID:24938718|PMID:25312043|PMID:25741868|PMID:26780318|PMID:28041643|PMID:28492532|PMID:9973280 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:14791 Leber congenital amaurosis ISO RGD:1319792 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital retinal blindness PMID:10090887|PMID:10711710|PMID:10958761|PMID:11527935|PMID:11687513|PMID:19074458|PMID:21873672|PMID:23755871|PMID:23769331|PMID:24342785|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25312043|PMID:25525159|PMID:25544989|PMID:25741868|PMID:25922843|PMID:26103963|PMID:26780318|PMID:26872967|PMID:28041643|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29854428|PMID:29925512|PMID:30060493|PMID:30718709|PMID:30834176|PMID:31522899|PMID:31766579|PMID:33546218|PMID:9781034 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:4448 macular degeneration ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy PMID:10090887|PMID:10206579|PMID:10458172|PMID:10634594|PMID:10711710|PMID:10874631|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11527935|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20647261|PMID:20696155|PMID:20960624|PMID:20981092|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23143460|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26229699|PMID:26261413|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27367509|PMID:27535533|PMID:27628848|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:28947085|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29925512|PMID:29971439|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:31015497|PMID:31213501|PMID:31456290|PMID:31522899|PMID:31736247|PMID:32036094|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32619608|PMID:32783370|PMID:33223529|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:4448 macular degeneration susceptibility ISO RGD:1319792 D RGD:9068941 20200609 RGD PMID:9295268|REF_RGD_ID:1598551 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:574 peripheral nervous system disease ISO RGD:1319792 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10090887|PMID:10612508|PMID:10634594|PMID:10880298|PMID:10958763|PMID:11017087|PMID:11444963|PMID:11726554|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:15516930|PMID:16400609|PMID:18285826|PMID:18977788|PMID:19265867|PMID:20981092|PMID:22247458|PMID:22264887|PMID:23144455|PMID:23695285|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24713488|PMID:25082885|PMID:25097241|PMID:25283059|PMID:25333069|PMID:25741868|PMID:26247787|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28446513|PMID:28492532|PMID:30718709|PMID:31522899|PMID:32278709|PMID:32531858|PMID:9054934 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:630 genetic disease ISO RGD:1319792 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10090887|PMID:10612508|PMID:10634594|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11444963|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15516930|PMID:15579991|PMID:16103129|PMID:16400609|PMID:17576681|PMID:18285826|PMID:18977788|PMID:19074458|PMID:19217903|PMID:20029649|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21786275|PMID:22025579|PMID:22229821|PMID:22264887|PMID:22312191|PMID:22427542|PMID:22449572|PMID:22661473|PMID:23144455|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23953153|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24265693|PMID:24713488|PMID:24938718|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25474345|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25921964|PMID:26103963|PMID:26247787|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:27535533|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28327576|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29162642|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30060493|PMID:30718709|PMID:31522899|PMID:32278709|PMID:32531858|PMID:33223529|PMID:33375396|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9536098|PMID:9973280 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:8466 retinal degeneration ISO RGD:1319792 D RGD:9068941 20200609 RGD DNA:mutation:exon:p.G1961E PMID:22661473|REF_RGD_ID:7829712 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:8466 retinal degeneration ISO RGD:1616873 D RGD:9068941 20200609 RGD PMID:19553623|REF_RGD_ID:7829710 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:8501 fundus dystrophy ISO RGD:1319792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10509673|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11818392|PMID:11846518|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12592048|PMID:12796258|PMID:12962493|PMID:14517951|PMID:14709597|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:16896346|PMID:16917483|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17893657|PMID:17932850|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18334942|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19339744|PMID:19352439|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20404325|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20852892|PMID:20960624|PMID:20981092|PMID:21293320|PMID:21296825|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22076985|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22395892|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22863181|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23341817|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24020726|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24342785|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24550365|PMID:24632595|PMID:24677105|PMID:24713488|PMID:24743636|PMID:24763286|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25412400|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25681002|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26024099|PMID:26047050|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26377081|PMID:26527198|PMID:26551331|PMID:26593885|PMID:26720470|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27030965|PMID:27032803|PMID:27353947|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27699414|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28147405|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28771251|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29178665|PMID:29186038|PMID:29310964|PMID:29343940|PMID:29422768|PMID:29461686|PMID:29526278|PMID:29555955|PMID:29641573|PMID:29847635|PMID:29847651|PMID:29848554|PMID:29854428|PMID:29925512|PMID:29975949|PMID:30029497|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30337596|PMID:30576320|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30820146|PMID:30834176|PMID:30903310|PMID:31015497|PMID:31144483|PMID:31212395|PMID:31213501|PMID:31318848|PMID:31397521|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31736247|PMID:31766579|PMID:31884623|PMID:31934596|PMID:31968401|PMID:32016942|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32627976|PMID:32783370|PMID:32821503|PMID:33090715|PMID:33129279|PMID:33223529|PMID:33261146|PMID:33301772|PMID:33375396|PMID:33546218 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:8501 fundus dystrophy ISO RGD:1319792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:33691693|PMID:33732702|PMID:34008892|PMID:34073554|PMID:8533764|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:870 neuropathy ISO RGD:1319792 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10090887|PMID:10612508|PMID:10634594|PMID:10880298|PMID:10958763|PMID:11017087|PMID:11444963|PMID:11726554|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:15516930|PMID:16400609|PMID:18285826|PMID:18977788|PMID:19265867|PMID:20981092|PMID:22247458|PMID:22264887|PMID:23144455|PMID:23695285|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24713488|PMID:25082885|PMID:25097241|PMID:25283059|PMID:25333069|PMID:25741868|PMID:26247787|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28446513|PMID:28492532|PMID:30718709|PMID:31522899|PMID:32278709|PMID:32531858|PMID:9054934 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9000290 Stargardt Disease 3 ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stargardt disease 3 PMID:25741868|PMID:28492532 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9000341 Concentric Annular Macular Dystrophy ISO RGD:1319792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy, concentric annular PMID:10090887|PMID:10958761|PMID:10958763|PMID:15614537|PMID:18285826|PMID:19074458|PMID:20696155|PMID:22264887|PMID:22328824|PMID:23443024|PMID:23591405|PMID:23695285|PMID:24342785|PMID:24713488|PMID:24938718|PMID:25082885|PMID:25097241|PMID:25312043|PMID:25525159|PMID:25544989|PMID:25741868|PMID:26261413|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27775217|PMID:28041643|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29461686|PMID:29925512|PMID:30576320|PMID:30718709|PMID:32235935|PMID:33546218 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9000343 Vision Disorders ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:10958761|PMID:10958763|PMID:11702214|PMID:15192030|PMID:16199547|PMID:24550365|PMID:24938718|PMID:25312043|PMID:25741868|PMID:26780318|PMID:28118664|PMID:28492532|PMID:28559085|PMID:31212395 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9005690 Mandibulofacial Dysostosis with Mental Deficiency ISO RGD:1319792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mandibulofacial dysostosis with mental deficiency PMID:10396622|PMID:11017087|PMID:11527935|PMID:11726554|PMID:15579991|PMID:16682602|PMID:18854780|PMID:19074458|PMID:23419329|PMID:25283059|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30718709|PMID:33546218|PMID:9973280 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1319792 D RGD:7240710 20180130 OMIM 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Generalized choriocapillaris dystrophy | ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1 PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10509673|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10746567|PMID:10874631|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11673412|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11818392|PMID:11846518|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12202497|PMID:12515255|PMID:12592048|PMID:12796258|PMID:12962493|PMID:14517951|PMID:14709597|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:16917483|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17893657|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18334942|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19339744|PMID:19365591|PMID:20029649|PMID:20108432|PMID:20128570|PMID:20335603|PMID:20404325|PMID:20647261|PMID:20696155|PMID:20801516|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22076985|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22395892|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22863181|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23134348|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23424971|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24020726|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24342785|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24550365|PMID:24585425|PMID:24632595|PMID:24713488|PMID:24743636|PMID:24763286|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097154|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25412400|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25884411|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26024099|PMID:26047050|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26377081|PMID:26527198|PMID:26551331|PMID:26593885|PMID:26720470|PMID:26743751|PMID:26764160|PMID:26780318|PMID:26872967|PMID:26976702|PMID:26992781|PMID:27014590|PMID:27030965|PMID:27032803|PMID:27353947|PMID:27367509|PMID:27535533|PMID:27628848|PMID:27699414|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28771251|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29178665|PMID:29186038|PMID:29310964|PMID:29343940|PMID:29422768|PMID:29461686|PMID:29526278|PMID:29555955|PMID:29625472|PMID:29641573|PMID:29847635|PMID:29847639|PMID:29847651|PMID:29848554|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30029497|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30337596|PMID:30480703|PMID:30576320|PMID:30643219|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30820146|PMID:30834176|PMID:30903310|PMID:30945053|PMID:31015497|PMID:31129250|PMID:31144483|PMID:31212395|PMID:31213501|PMID:31318848|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31543898|PMID:31576780|PMID:31614660|PMID:31618761|PMID:31630094|PMID:31736247|PMID:31766579|PMID:31814693|PMID:31814694|PMID:31884623|PMID:31934596|PMID:32036094 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Generalized choriocapillaris dystrophy | ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1 PMID:32141364|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32627976|PMID:32717343|PMID:32783370|PMID:32821503|PMID:32845050|PMID:32845068|PMID:33090715|PMID:33223529|PMID:33261146|PMID:33301772|PMID:33375396|PMID:33546218|PMID:33732702|PMID:34008892|PMID:34214897|PMID:35608843|PMID:8533764|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9006630 Stargardt Disease 1 susceptibility ISO RGD:1319792 D RGD:9068941 20200609 RGD DNA:mutation:exon:c.2041C>T(human) PMID:24342785|REF_RGD_ID:7829716 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9006630 Stargardt Disease 1 susceptibility ISO RGD:1319792 D RGD:9068941 20200609 RGD DNA:mutations:multiple: PMID:22328824|REF_RGD_ID:7815045 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9006630 Stargardt Disease 1 treatment ISO RGD:1319792 D RGD:9068941 20200609 RGD PMID:18463687|REF_RGD_ID:7815046 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9008296 Eye Abnormalities ISO RGD:1319792 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:11017087|PMID:11527935|PMID:19265867|PMID:22264887|PMID:24265693|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29925512|PMID:30576320|PMID:33546218|PMID:9054934 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9008818 Retinal Dystrophy, Early Onset Severe ISO RGD:1319792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy, early-onset severe PMID:10958761|PMID:11385708|PMID:24938718|PMID:25312043|PMID:25544989|PMID:25741868|PMID:26780318|PMID:28041643|PMID:28492532|PMID:28947085|PMID:30718709|PMID:33546218|PMID:9973280 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9296 cleft lip ISO RGD:1319792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20436469 12280699 ABCA4 ATP binding cassette subfamily A member 4 gene DOID:9335 scotoma ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Central scotoma PMID:10958761|PMID:16199547|PMID:24938718|PMID:25312043|PMID:25741868|PMID:26780318|PMID:28118664|PMID:28492532|PMID:28559085 12280753 VWA3B von Willebrand factor A domain containing 3B gene DOID:0111614 autosomal recessive spinocerebellar ataxia 22 ISO RGD:1603168 D RGD:7240710 20190315 OMIM 12280753 VWA3B von Willebrand factor A domain containing 3B gene DOID:0111614 autosomal recessive spinocerebellar ataxia 22 ISO RGD:1603168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 22 PMID:25741868|PMID:26157035 12280753 VWA3B von Willebrand factor A domain containing 3B gene DOID:630 genetic disease ISO RGD:1603168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280753 VWA3B von Willebrand factor A domain containing 3B gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1603168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12280791 SLC22A18 solute carrier family 22 member 18 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12280791 SLC22A18 solute carrier family 22 member 18 gene DOID:0080773 delta beta-thalassemia ISO RGD:1350768 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12280791 SLC22A18 solute carrier family 22 member 18 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12280791 SLC22A18 solute carrier family 22 member 18 gene DOID:1612 breast cancer ISO RGD:1350768 D RGD:7240710 20190315 OMIM 12280791 SLC22A18 solute carrier family 22 member 18 gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:1350768 D RGD:9068941 20220107 RGD mRNA:decreased expression:colorectum (human) PMID:26196590|REF_RGD_ID:11522474 12280791 SLC22A18 solute carrier family 22 member 18 gene DOID:3247 rhabdomyosarcoma ISO RGD:1350768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma, somatic PMID:9520460 12280791 SLC22A18 solute carrier family 22 member 18 gene DOID:3458 breast adenocarcinoma ISO RGD:1350768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast adenocarcinoma PMID:9520460 12280791 SLC22A18 solute carrier family 22 member 18 gene DOID:3905 lung carcinoma ISO RGD:1350768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:9751628 12280791 SLC22A18 solute carrier family 22 member 18 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350768 D RGD:9068941 20220107 RGD mRNA:increased expression:lung (human) PMID:25498886|REF_RGD_ID:150557424 12280791 SLC22A18 solute carrier family 22 member 18 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1350768 D RGD:9068941 20220107 RGD protein:increased expression:lung (human) PMID:22237119|REF_RGD_ID:150557425 12280791 SLC22A18 solute carrier family 22 member 18 gene DOID:3910 lung adenocarcinoma ISO RGD:1350768 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 12280791 SLC22A18 solute carrier family 22 member 18 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1350768 D RGD:9068941 20220107 RGD mRNA:increased expression:lung (human) PMID:32726996|REF_RGD_ID:150557423 12280791 SLC22A18 solute carrier family 22 member 18 gene DOID:4914 esophagus adenocarcinoma disease_progression ISO RGD:1350768 D RGD:9068941 20220107 RGD DNA:hypermethylation: (human) PMID:23243219|REF_RGD_ID:150557426 12280791 SLC22A18 solute carrier family 22 member 18 gene DOID:630 genetic disease ISO RGD:1350768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280791 SLC22A18 solute carrier family 22 member 18 gene DOID:9005172 Lung Neoplasms ISO RGD:1350768 D RGD:7240710 20190315 OMIM 12280791 SLC22A18 solute carrier family 22 member 18 gene DOID:9007643 Embryonal Rhabdomyosarcoma 1 ISO RGD:1350768 D RGD:7240710 20190315 OMIM 12280791 SLC22A18 solute carrier family 22 member 18 gene DOID:9008939 Breast Neoplasms ISO RGD:1350768 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12280803 SPTY2D1 SPT2 chromatin protein domain containing 1 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1603901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 12280803 SPTY2D1 SPT2 chromatin protein domain containing 1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1603901 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 12280803 SPTY2D1 SPT2 chromatin protein domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1603901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12280803 SPTY2D1 SPT2 chromatin protein domain containing 1 gene DOID:630 genetic disease ISO RGD:1603901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280813 ZNF385A zinc finger protein 385A gene DOID:630 genetic disease ISO RGD:1315468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280835 PRPF40B pre-mRNA processing factor 40 homolog B gene DOID:630 genetic disease ISO RGD:1604375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280879 TMEM106C transmembrane protein 106C gene DOID:630 genetic disease ISO RGD:1601972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280894 CIAPIN1 cytokine induced apoptosis inhibitor 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346049 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12280894 CIAPIN1 cytokine induced apoptosis inhibitor 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346049 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12280894 CIAPIN1 cytokine induced apoptosis inhibitor 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12280894 CIAPIN1 cytokine induced apoptosis inhibitor 1 gene DOID:630 genetic disease ISO RGD:1346049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280907 CCNB2 cyclin B2 gene DOID:0080600 COVID-19 ISO RGD:1317801 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12280907 CCNB2 cyclin B2 gene DOID:2717 Bloom syndrome ISO RGD:1317801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12280907 CCNB2 cyclin B2 gene DOID:630 genetic disease ISO RGD:1317801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280907 CCNB2 cyclin B2 gene DOID:684 hepatocellular carcinoma ISO RGD:1317801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12280907 CCNB2 cyclin B2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12280907 CCNB2 cyclin B2 gene DOID:9256 colorectal cancer ISO RGD:1317801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12280925 PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:0110604 primary ciliary dyskinesia 18 ISO RGD:1351287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 18 PMID:25741868|PMID:28492532|PMID:29363216 12280925 PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:10763 hypertension ISO RGD:11140 D RGD:9068941 20200609 RGD PMID:11161799|REF_RGD_ID:619653 12280925 PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:630 genetic disease ISO RGD:1351287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12280925 PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:9000495 Tremor ISO RGD:3392 D RGD:9068941 20211022 RGD PMID:33479380|REF_RGD_ID:150519900 12280925 PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:9003241 MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME ISO RGD:1351287 D RGD:7240710 20220209 OMIM 12280925 PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:9003241 MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME ISO RGD:1351287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marbach-Schaaf neurodevelopmental syndrome PMID:25741868|PMID:33833410 12280925 PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PRKAR1B-related neurodevelopmental disorder PMID:25741868|PMID:33833410 12280925 PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:24307375|PMID:25232951|PMID:25741868|PMID:28492532 12280951 RGN regucalcin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12280951 RGN regucalcin gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:732128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12280951 RGN regucalcin gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:732128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders PMID:14985377|PMID:21441247|PMID:28492532 12280951 RGN regucalcin gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:732128 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12280951 RGN regucalcin gene DOID:10534 stomach cancer severity ISO RGD:732128 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 12280951 RGN regucalcin gene DOID:1168 familial hyperlipidemia ISO RGD:3560 D RGD:9068941 20200609 RGD PMID:15375596|REF_RGD_ID:9590273 12280951 RGN regucalcin gene DOID:12849 autistic disorder ISO RGD:732128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12280951 RGN regucalcin gene DOID:1289 neurodegenerative disease ISO RGD:11237 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:19437547|REF_RGD_ID:9590213 12280951 RGN regucalcin gene DOID:5082 liver cirrhosis ISO RGD:732128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12280951 RGN regucalcin gene DOID:557 kidney disease ISO RGD:732128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18805471 12280951 RGN regucalcin gene DOID:630 genetic disease ISO RGD:732128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12280951 RGN regucalcin gene DOID:684 hepatocellular carcinoma ISO RGD:3560 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:21683810|REF_RGD_ID:5509919 12280951 RGN regucalcin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 12280951 RGN regucalcin gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:732128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 12280951 RGN regucalcin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12280951 RGN regucalcin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3560 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:9062895|REF_RGD_ID:9590177 12280951 RGN regucalcin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12280968 EXOC4 exocyst complex component 4 gene DOID:0050778 Meckel syndrome ISO RGD:1353036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25558065 12280968 EXOC4 exocyst complex component 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12280968 EXOC4 exocyst complex component 4 gene DOID:630 genetic disease ISO RGD:1353036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1322140 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:17143282|PMID:17143285|PMID:17586837|PMID:19953625|PMID:20981092|PMID:23487764|PMID:24033266|PMID:25741868|PMID:28492532 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0050700 cardiomyopathy ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:21340158|PMID:21387466|PMID:22585553|PMID:24033266|PMID:25741868|PMID:28492532 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060260 ptosis ISO RGD:1322140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ptosis PMID:17143285|PMID:17586837|PMID:20186801|PMID:21387466|PMID:22494877|PMID:23487764|PMID:24033266|PMID:24458522|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30325180|PMID:30784236|PMID:31560489 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060466 gingival fibromatosis ISO RGD:1322140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gingival fibromatosis PMID:25741868|PMID:28492532 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1322140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:17143282|PMID:17143285|PMID:17586837|PMID:18651097|PMID:18854871|PMID:18925667|PMID:18925961|PMID:19020799|PMID:19352411|PMID:19953625|PMID:20186801|PMID:20305546|PMID:20673819|PMID:20683980|PMID:21274610|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:23321623|PMID:23487764|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24939586|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25862627|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26467025|PMID:26686981|PMID:26918529|PMID:27236105|PMID:27304678|PMID:28378436|PMID:28492532|PMID:29037749|PMID:29625050|PMID:29696744|PMID:29752777|PMID:29907801|PMID:30266093|PMID:30325180|PMID:30784236|PMID:31219622|PMID:31292302|PMID:31560489 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060581 Noonan syndrome 3 ISO RGD:1322140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:17143282|PMID:17143285|PMID:17586837|PMID:19020799|PMID:19352411|PMID:20186801|PMID:21274610|PMID:21387466|PMID:21784453|PMID:22190897|PMID:23321623|PMID:23487764|PMID:24033266|PMID:24037001|PMID:25337068|PMID:25741868|PMID:26214590|PMID:26686981|PMID:26918529|PMID:27236105|PMID:28378436|PMID:28492532|PMID:29037749|PMID:29907801|PMID:30266093|PMID:31292302 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060582 Noonan syndrome 4 ISO RGD:1322140 D RGD:7240710 20180130 OMIM 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060582 Noonan syndrome 4 ISO RGD:1322140 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Noonan syndrome 4 PMID:10675333|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23321623|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1322140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:27763634|PMID:28492532 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23452850|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26297936|PMID:26467025|PMID:26580448|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27763634|PMID:28166811|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29402968|PMID:29493581|PMID:29625050|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30266093|PMID:30417923|PMID:30784236|PMID:31219622|PMID:31573083|PMID:32603605|PMID:33318624|PMID:34008892|PMID:9536098 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: RASopathy PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23452850|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26297936|PMID:26467025|PMID:26580448|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29402968|PMID:29493581|PMID:29625050|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30266093|PMID:30417923|PMID:30784236|PMID:31219622|PMID:31292302|PMID:31573083|PMID:32603605|PMID:33318624|PMID:34008892|PMID:9536098 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23452850|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23452850|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23452850|PMID:23487764|PMID:23602711|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23321623|PMID:23452850|PMID:23487764|PMID:23602711|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23321623|PMID:23452850|PMID:23487764|PMID:23602711|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29146900|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1322140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24033266|PMID:27763634|PMID:28492532 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 3 PMID:21340158|PMID:21387466|PMID:22585553|PMID:24033266|PMID:25741868|PMID:28492532 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:10283 prostate cancer ISO RGD:1322140 D RGD:9068941 20200609 RGD PMID:19724911|REF_RGD_ID:13506813 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:1059 intellectual disability ISO RGD:1322140 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17586837|PMID:21387466|PMID:24939586|PMID:25741868|PMID:28492532 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:21340158|PMID:21387466|PMID:22585553|PMID:24033266|PMID:25741868|PMID:28492532 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322140 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21340158|PMID:21387466|PMID:22585553|PMID:24033266|PMID:25741868|PMID:26350204|PMID:28492532|PMID:32603605 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:1682 congenital heart disease ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:1882 atrial heart septal defect ISO RGD:1322140 D RGD:9068941 20221027 RGD associated with Noonan Syndrome;DNA:missense mutations:CDS:multiple (human) PMID:17143285|REF_RGD_ID:11063543 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:2316 brain ischemia ISO RGD:1310949 D RGD:9068941 20221027 RGD PMID:26442853|REF_RGD_ID:155630597 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:3490 Noonan syndrome ISO RGD:1322140 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:10675333|PMID:11333268|PMID:14551916|PMID:16267129|PMID:17143282|PMID:17143285|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23321623|PMID:23452850|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29907801|PMID:30039904|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:31219622|PMID:31292302|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:3526 cerebral infarction ISO RGD:1322140 D RGD:9068941 20221020 RGD mRNA:increased expression:blood (human) PMID:35041140|REF_RGD_ID:155598600 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:363 uterine cancer ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26619011 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:3883 Lynch syndrome ISO RGD:1322140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:26619011 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:4362 cervical cancer ISO RGD:1322140 D RGD:9068941 20200609 RGD mRNA:increased expression:cervix epithelium (human) PMID:27581326|REF_RGD_ID:13441596 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:1322140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17143282|PMID:17143285|PMID:17586837|PMID:19020799|PMID:19077116|PMID:19953625|PMID:20133692|PMID:20186801|PMID:20607846|PMID:20683980|PMID:21387466|PMID:21744363|PMID:21784453|PMID:22420426|PMID:22465605|PMID:23487764|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24803665|PMID:24896146|PMID:25741868|PMID:25862627|PMID:26280111|PMID:26918529|PMID:28492532|PMID:29493581|PMID:30784236|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1322140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:17143285|PMID:17586837|PMID:20186801|PMID:21387466|PMID:22494877|PMID:23487764|PMID:24033266|PMID:24458522|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30325180|PMID:30784236|PMID:31560489 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9001891 Atrial Septal Defect, Secundum Type ISO RGD:1322141 D RGD:9068941 20221027 RGD DNA:missense mutation:CDS:p.E846K (mouse) PMID:21041952|REF_RGD_ID:11064696 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9002182 Cafe au lait Spots, Multiple ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cafe au lait spots, multiple 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9003091 Noonan Like Syndrome ISO RGD:1322140 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS PMID:10675333|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18772396|PMID:18854871|PMID:18925667|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19953625|PMID:20133692|PMID:20186801|PMID:20305546|PMID:20493809|PMID:20607846|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:23487764|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:25073238|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26280111|PMID:26297936|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26918529|PMID:27153395|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:33042901|PMID:33128510|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9003145 Nuchal Bleb, Familial ISO RGD:1322140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nuchal bleb, familial PMID:17143285|PMID:17586837|PMID:20186801|PMID:21387466|PMID:22494877|PMID:23487764|PMID:24033266|PMID:24458522|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30325180|PMID:30784236|PMID:31560489 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9003873 Gingival Fibromatosis 1 ISO RGD:1322140 D RGD:7240710 20180130 OMIM 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9003873 Gingival Fibromatosis 1 ISO RGD:1322140 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Fibromatosis, gingival, 1 | ClinVar Annotator: match by term: Hereditary gingival fibromatosis, 1 PMID:10675333|PMID:11868160|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17576681|PMID:17586837|PMID:18651097|PMID:18678287|PMID:18854871|PMID:18925667|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19953625|PMID:20133692|PMID:20186801|PMID:20305546|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:23321623|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26297936|PMID:26467025|PMID:26580448|PMID:26686981|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30762279|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32603605|PMID:33042901|PMID:33848766|PMID:34008892|PMID:9030684|PMID:9536098 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1322140 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:17586837|PMID:21387466|PMID:24939586|PMID:25741868|PMID:28492532 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1322140 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:19020799|PMID:19953625|PMID:21387466|PMID:21784453|PMID:23487764|PMID:23673306|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26918529|PMID:28492532|PMID:29493581|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9007096 Stroke ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stroke PMID:24033266|PMID:25741868|PMID:28492532 12281008 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9007661 Dwarfism ISO RGD:1322140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short stature PMID:17143285|PMID:17586837|PMID:20186801|PMID:21387466|PMID:22494877|PMID:23487764|PMID:24033266|PMID:24458522|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30325180|PMID:30784236|PMID:31560489 12281035 IGSF3 immunoglobulin superfamily member 3 gene DOID:10485 esophageal atresia ISO RGD:1317196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12281035 IGSF3 immunoglobulin superfamily member 3 gene DOID:13929 lacrimal duct obstruction ISO RGD:1317196 D RGD:7240710 20180130 OMIM 12281035 IGSF3 immunoglobulin superfamily member 3 gene DOID:13929 lacrimal duct obstruction ISO RGD:1317196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lacrimal duct defect PMID:24372406 12281035 IGSF3 immunoglobulin superfamily member 3 gene DOID:2661 myoepithelioma ISO RGD:1317196 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12281035 IGSF3 immunoglobulin superfamily member 3 gene DOID:630 genetic disease ISO RGD:1317196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12281035 IGSF3 immunoglobulin superfamily member 3 gene DOID:9008473 Lacrimal Puncta Agenesis ISO RGD:1317196 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lacrimal puncta, absence of PMID:24372406 12281053 CTNND1 catenin delta 1 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1313793 D RGD:9068941 20200609 RGD PMID:26464646|REF_RGD_ID:11526681 12281053 CTNND1 catenin delta 1 gene DOID:0080346 blepharocheilodontic syndrome 2 ISO RGD:1313793 D RGD:7240710 20191002 OMIM 12281053 CTNND1 catenin delta 1 gene DOID:0080346 blepharocheilodontic syndrome 2 ISO RGD:1313793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2 PMID:25741868|PMID:28301459|PMID:29805042 12281053 CTNND1 catenin delta 1 gene DOID:0080600 COVID-19 ISO RGD:1313793 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12281053 CTNND1 catenin delta 1 gene DOID:1059 intellectual disability ISO RGD:1313793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12281053 CTNND1 catenin delta 1 gene DOID:630 genetic disease ISO RGD:1313793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12281053 CTNND1 catenin delta 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1313793 D RGD:9068941 20200924 RGD protein:decreased expression:lung PMID:25593290|REF_RGD_ID:38500244 12281053 CTNND1 catenin delta 1 gene DOID:9296 cleft lip ISO RGD:1313793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft lip with or without cleft palate PMID:25741868|PMID:29805042 12281090 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:0050690 brachyolmia ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25669657 12281090 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:0080001 bone disease ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19344874 12281090 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome ISO RGD:736405 D RGD:7240710 20180130 OMIM 12281090 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome ISO RGD:736405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome PMID:11790802|PMID:16199547|PMID:17576681|PMID:19213025|PMID:19344874|PMID:25640679|PMID:25669657|PMID:25741868|PMID:25899461|PMID:28492532|PMID:29625025|PMID:30887145|PMID:33082559|PMID:35998423|PMID:9536098 12281090 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:0111727 geleophysic dysplasia 3 ISO RGD:736405 D RGD:7240710 20190315 OMIM 12281090 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:0111727 geleophysic dysplasia 3 ISO RGD:736405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 3 PMID:25741868|PMID:27068007|PMID:28492532|PMID:30887145|PMID:33082559 12281090 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:1059 intellectual disability ISO RGD:736405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12281090 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:13714 anodontia ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19344874|PMID:25899461 12281090 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12281090 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:2187 amelogenesis imperfecta ISO RGD:736405 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta PMID:35998423 12281090 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:2746 glycogen storage disease V ISO RGD:736405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12281090 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:3070 high grade glioma ISO RGD:736405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12281090 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:4254 osteosclerosis ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11790802|PMID:12379497 12281090 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:630 genetic disease ISO RGD:736405 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12281090 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:8398 osteoarthritis ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11790802|PMID:12379497 12281090 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:9000838 Growth Mental Deficiency Syndrome of Myhre ISO RGD:736405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease PMID:25741868|PMID:29625025 12281090 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:9003358 Kyphosis ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11790802 12281090 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:736405 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12281090 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 12281090 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:9006257 Growth Disorders ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19344874|PMID:25899461 12281090 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:736405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 12281090 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11790802|PMID:12379497 12281090 LTBP3 latent transforming growth factor beta binding protein 3 gene DOID:988 mitral valve prolapse ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25899461 12281119 TUBB1 tubulin beta 1 class VI gene DOID:0050328 congenital hypothyroidism ISO RGD:1345439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:25741868|PMID:28492532|PMID:28983057|PMID:30446499|PMID:32757236 12281119 TUBB1 tubulin beta 1 class VI gene DOID:0060651 MYH-9 related disease ISO RGD:1345439 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss PMID:25741868 12281119 TUBB1 tubulin beta 1 class VI gene DOID:0090102 autosomal dominant macrothrombocytopenia TUBB1-related ISO RGD:1345439 D RGD:7240710 20180130 OMIM 12281119 TUBB1 tubulin beta 1 class VI gene DOID:0090102 autosomal dominant macrothrombocytopenia TUBB1-related ISO RGD:1345439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macrothrombocytopenia, isolated, 1, autosomal dominant PMID:18849486|PMID:24344610|PMID:24777453|PMID:25741868|PMID:27346686|PMID:27479822|PMID:28054583|PMID:28492532|PMID:28983057|PMID:30446499|PMID:31064749|PMID:31249973|PMID:31565851|PMID:32757236|PMID:32892537|PMID:33400601|PMID:34355501|PMID:34516618 12281119 TUBB1 tubulin beta 1 class VI gene DOID:1588 thrombocytopenia ISO RGD:1345439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:24777453|PMID:25741868|PMID:27346686|PMID:28054583|PMID:28492532|PMID:31064749|PMID:31249973|PMID:32757236|PMID:34516618 12281119 TUBB1 tubulin beta 1 class VI gene DOID:2213 hemorrhagic disease ISO RGD:1345439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:18849486|PMID:25741868|PMID:27479822|PMID:28492532|PMID:32892537|PMID:32935436|PMID:33400601 12281119 TUBB1 tubulin beta 1 class VI gene DOID:630 genetic disease ISO RGD:1345439 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12281119 TUBB1 tubulin beta 1 class VI gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1345439 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:0050850 diabetic encephalopathy ISO RGD:620897 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17601561|REF_RGD_ID:7771546 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:0060180 colitis severity ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:22461024|REF_RGD_ID:7771532 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:0080600 COVID-19 ISO RGD:732954 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:732954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:732954 D RGD:9068941 20200609 RGD PMID:9010448|REF_RGD_ID:2298698 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:10603 glucose intolerance resistance ISO RGD:732955 D RGD:9068941 20200609 RGD PMID:16814733|REF_RGD_ID:2298673 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:10754 otitis media treatment ISO RGD:732955 D RGD:9068941 20200609 RGD PMID:22610099|REF_RGD_ID:7771533 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:10762 portal hypertension ISO RGD:620897 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:stomach mucosa PMID:11758828|REF_RGD_ID:2298677 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:10763 hypertension ISO RGD:620897 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta PMID:9231829|REF_RGD_ID:2298678 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:10908 hydrocephalus ISO RGD:732954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732954 D RGD:9068941 20200609 RGD PMID:17690186|REF_RGD_ID:2298694 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:11832 visual epilepsy ISO RGD:620897 D RGD:9068941 20200609 RGD PMID:8626780|REF_RGD_ID:728656 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:11832 visual epilepsy ISO RGD:620897 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:8883936|REF_RGD_ID:2298690 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:12858 Huntington's disease treatment ISO RGD:620897 D RGD:9068941 20200609 RGD PMID:23392662|REF_RGD_ID:7771544 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:1470 major depressive disorder ISO RGD:732954 D RGD:9068941 20200609 RGD mRNA:increased expression:dentated gyrus, hippocampus A1 PMID:20953200|REF_RGD_ID:7771583 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:1612 breast cancer ISO RGD:732954 D RGD:9068941 20200609 RGD protein:increased expression:T cell PMID:9724088|REF_RGD_ID:2298697 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:1612 breast cancer ISO RGD:732954 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland PMID:12618338|REF_RGD_ID:7495809 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:1612 breast cancer disease_progression ISO RGD:732954 D RGD:9068941 20200609 RGD PMID:19417026|REF_RGD_ID:7495851 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:1612 breast cancer severity ISO RGD:732954 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:22333693|REF_RGD_ID:7495850 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732954 D RGD:9068941 20200609 RGD mRNA:increased expression:saliva PMID:23892499|REF_RGD_ID:7771538 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:224 transient cerebral ischemia ISO RGD:620897 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:22197701|REF_RGD_ID:7771582 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:2349 arteriosclerosis ISO RGD:732955 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:15242861|REF_RGD_ID:2298676 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:2773 contact dermatitis ISO RGD:732954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:2773 contact dermatitis treatment ISO RGD:732955 D RGD:9068941 20200609 RGD PMID:23076500|REF_RGD_ID:7771535 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:289 endometriosis ISO RGD:732954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:732954 D RGD:9068941 20200609 RGD PMID:12432554|REF_RGD_ID:2298695 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:620897 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:8587253|REF_RGD_ID:633769 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:4989 pancreatitis ISO RGD:620897 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:11027531|REF_RGD_ID:2301725 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:630 genetic disease ISO RGD:732954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:732954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:8893 psoriasis ISO RGD:732954 D RGD:9068941 20200609 RGD mRNA:decreased expression:skin PMID:22924482|REF_RGD_ID:7495852 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620897 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:18630599|REF_RGD_ID:7771572 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:620897 D RGD:9068941 20200609 RGD PMID:19383246|REF_RGD_ID:7771580 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:620897 D RGD:9068941 20200609 RGD PMID:21094639|REF_RGD_ID:7495849 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:9002211 Hyperalgesia treatment ISO RGD:620897 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:22540262|PMID:22901764|REF_RGD_ID:7771531|REF_RGD_ID:7771574 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:620897 D RGD:9068941 20200609 RGD PMID:12487923|REF_RGD_ID:7771581 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:620897 D RGD:9068941 20200609 RGD PMID:19347983|REF_RGD_ID:7771584 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:732954 D RGD:9068941 20200609 RGD PMID:20837666|REF_RGD_ID:5129167 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620897 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:ventricle myocardium PMID:17647144|REF_RGD_ID:2298672 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620897 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:17063547|REF_RGD_ID:7771540 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:9005882 Spine Osteoarthritis ISO RGD:732954 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34697729 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:620897 D RGD:9068941 20200609 RGD PMID:9546380|REF_RGD_ID:7771579 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:9006478 Amyloid Neuropathies ISO RGD:732954 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:salivary gland, nerve PMID:16515552|REF_RGD_ID:7771547 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:732954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:732954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:9065 leishmaniasis treatment ISO RGD:732955 D RGD:9068941 20200609 RGD PMID:21471446|REF_RGD_ID:7771536 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:620897 D RGD:9068941 20200609 RGD PMID:7485483|REF_RGD_ID:2298693 12281129 DUSP1 dual specificity phosphatase 1 gene DOID:9970 obesity susceptibility ISO RGD:732955 D RGD:9068941 20200609 RGD PMID:16814733|REF_RGD_ID:2298673 12281138 ANKRD13C ankyrin repeat domain 13C gene DOID:1059 intellectual disability ISO RGD:1604586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12281138 ANKRD13C ankyrin repeat domain 13C gene DOID:630 genetic disease ISO RGD:1604586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12281155 NEUROD2 neuronal differentiation 2 gene DOID:0112208 developmental and epileptic encephalopathy 72 ISO RGD:1344395 D RGD:7240710 20190424 OMIM 12281155 NEUROD2 neuronal differentiation 2 gene DOID:0112208 developmental and epileptic encephalopathy 72 ISO RGD:1344395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 72 PMID:25741868|PMID:30323019 12281155 NEUROD2 neuronal differentiation 2 gene DOID:630 genetic disease ISO RGD:1344395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12281164 ARSH arylsulfatase family member H gene DOID:0060041 autism spectrum disorder ISO RGD:1605805 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12281164 ARSH arylsulfatase family member H gene DOID:12849 autistic disorder ISO RGD:1605805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12281164 ARSH arylsulfatase family member H gene DOID:630 genetic disease ISO RGD:1605805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12281164 ARSH arylsulfatase family member H gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12281193 DCLRE1B DNA cross-link repair 1B gene DOID:0080690 RASopathy ISO RGD:1321192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12281193 DCLRE1B DNA cross-link repair 1B gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1321192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:25741868|PMID:28492532 12281193 DCLRE1B DNA cross-link repair 1B gene DOID:0111087 Fanconi anemia complementation group C ISO RGD:1321192 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group C PMID:25741868 12281193 DCLRE1B DNA cross-link repair 1B gene DOID:2476 hereditary spastic paraplegia ISO RGD:1321192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 12281193 DCLRE1B DNA cross-link repair 1B gene DOID:630 genetic disease ISO RGD:1321192 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12281193 DCLRE1B DNA cross-link repair 1B gene DOID:9001272 Hoyeraal Hreidarsson Syndrome ISO RGD:1321192 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome PMID:17576681|PMID:28492532|PMID:35007328|PMID:9536098 12281193 DCLRE1B DNA cross-link repair 1B gene DOID:9005448 Autosomal Recessive Dyskeratosis Congenita 8 ISO RGD:1321192 D RGD:7240710 20221214 OMIM 12281193 DCLRE1B DNA cross-link repair 1B gene DOID:9005448 Autosomal Recessive Dyskeratosis Congenita 8 ISO RGD:1321192 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 8 PMID:28492532|PMID:35007328 12281204 CYP26C1 cytochrome P450, family 26, subfamily C, polypeptide 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1318849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 12281204 CYP26C1 cytochrome P450, family 26, subfamily C, polypeptide 1 gene DOID:630 genetic disease ISO RGD:1318849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12281204 CYP26C1 cytochrome P450, family 26, subfamily C, polypeptide 1 gene DOID:9000745 Focal Facial Dermal Dysplasia ISO RGD:1318849 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism 12281204 CYP26C1 cytochrome P450, family 26, subfamily C, polypeptide 1 gene DOID:9000763 Focal Facial Dermal Dysplasia 4 ISO RGD:1318849 D RGD:7240710 20180130 OMIM 12281204 CYP26C1 cytochrome P450, family 26, subfamily C, polypeptide 1 gene DOID:9000763 Focal Facial Dermal Dysplasia 4 ISO RGD:1318849 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Focal facial dermal dysplasia 4 PMID:16530710|PMID:23161670|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29263414 12281217 SGCB sarcoglycan beta gene DOID:0050700 cardiomyopathy ISO RGD:1312050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21037199 12281217 SGCB sarcoglycan beta gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1312050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:10993494|PMID:11369190|PMID:12746421|PMID:15032976|PMID:15938573|PMID:17994539|PMID:18285821|PMID:19770540|PMID:22095924|PMID:25741868|PMID:25862795|PMID:26206375|PMID:26404900|PMID:26467025|PMID:28492532|PMID:28889091|PMID:29797799|PMID:30838351|PMID:7581449|PMID:8968749|PMID:9032047|PMID:9565988|PMID:9631401 12281217 SGCB sarcoglycan beta gene DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E ISO RGD:1312050 D RGD:7240710 20180130 OMIM 12281217 SGCB sarcoglycan beta gene DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E ISO RGD:1312050 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2E | ClinVar Annotator: match by term: Beta-sarcoglycan limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Beta-sarcoglycanopathy | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4 PMID:10660328|PMID:10662809|PMID:10874299|PMID:10942431|PMID:10993494|PMID:11166169|PMID:11369190|PMID:12566530|PMID:12746421|PMID:12868499|PMID:15032976|PMID:15938573|PMID:15938574|PMID:16199547|PMID:16524571|PMID:17576681|PMID:17994539|PMID:18285821|PMID:18996010|PMID:19763152|PMID:19770540|PMID:20071171|PMID:20307669|PMID:21480868|PMID:22095924|PMID:22406018|PMID:23349452|PMID:25135358|PMID:25337728|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25862795|PMID:26206375|PMID:26404900|PMID:26467025|PMID:26990548|PMID:27108072|PMID:27234031|PMID:27276190|PMID:27671536|PMID:28403181|PMID:28492532|PMID:28687063|PMID:28883879|PMID:28889091|PMID:29797799|PMID:29970176|PMID:30564623|PMID:30764848|PMID:30838351|PMID:30919934|PMID:31268554|PMID:31980526|PMID:32528171|PMID:32875335|PMID:33250842|PMID:34008892|PMID:7581448|PMID:7581449|PMID:8968749|PMID:9032047|PMID:9536098|PMID:9565988|PMID:9631401 12281217 SGCB sarcoglycan beta gene DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E treatment ISO RGD:1312050 D RGD:9068941 20200609 RGD PMID:28284983|REF_RGD_ID:13605613 12281217 SGCB sarcoglycan beta gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1312050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 12281217 SGCB sarcoglycan beta gene DOID:12930 dilated cardiomyopathy ISO RGD:1312050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12566530|PMID:15938573|PMID:25135358|PMID:25741868|PMID:25862795|PMID:28492532 12281217 SGCB sarcoglycan beta gene DOID:630 genetic disease ISO RGD:1312050 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10942431|PMID:10993494|PMID:11369190|PMID:17994539|PMID:18285821|PMID:18996010|PMID:20071171|PMID:22095924|PMID:23349452|PMID:25135358|PMID:25741868|PMID:25862795|PMID:26206375|PMID:26404900|PMID:26467025|PMID:26990548|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31980526|PMID:32528171|PMID:8968749|PMID:9032047|PMID:9565988|PMID:9631401 12281217 SGCB sarcoglycan beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12281217 SGCB sarcoglycan beta gene DOID:9884 muscular dystrophy ISO RGD:1312050 D RGD:9068941 20200609 RGD autosomal recessive limb-girdle muscular dystrophies (LGMD type 2C-F), OMIM:600900 PMID:9631401|REF_RGD_ID:1599343 12281233 MYMK myomaker, myoblast fusion factor gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:3302829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12281233 MYMK myomaker, myoblast fusion factor gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:3302829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12281233 MYMK myomaker, myoblast fusion factor gene DOID:0080194 Carey-Fineman-Ziter syndrome ISO RGD:3302829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences PMID:25741868|PMID:28681861|PMID:29560417|PMID:30016436|PMID:30065953|PMID:7131178 12281233 MYMK myomaker, myoblast fusion factor gene DOID:0080324 tuberous sclerosis 1 ISO RGD:3302829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12281233 MYMK myomaker, myoblast fusion factor gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:3302829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12281233 MYMK myomaker, myoblast fusion factor gene DOID:0081097 Rafiq syndrome ISO RGD:3302829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12281233 MYMK myomaker, myoblast fusion factor gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:3302829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12281233 MYMK myomaker, myoblast fusion factor gene DOID:3652 Leigh disease ISO RGD:3302829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12281233 MYMK myomaker, myoblast fusion factor gene DOID:9008218 Carey-Fineman-Ziter Syndrome 1 ISO RGD:3302829 D RGD:7240710 20220706 OMIM 12281233 MYMK myomaker, myoblast fusion factor gene DOID:9008218 Carey-Fineman-Ziter Syndrome 1 ISO RGD:3302829 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1 PMID:25741868|PMID:28681861|PMID:29560417|PMID:30065953|PMID:7131178 12281241 KCNH6 potassium voltage-gated channel subfamily H member 6 gene DOID:4194 glucose metabolism disease ISO RGD:1332067 D RGD:9068941 20220825 MouseDO 12281241 KCNH6 potassium voltage-gated channel subfamily H member 6 gene DOID:630 genetic disease ISO RGD:737542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12281280 PRKAB2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:0060041 autism spectrum disorder ISO RGD:735943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 12281280 PRKAB2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:735943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome 12281280 PRKAB2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:735943 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 12281280 PRKAB2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:735943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 12281280 PRKAB2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:1540 parathyroid carcinoma ISO RGD:735943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12281280 PRKAB2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:5419 schizophrenia ISO RGD:735943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12281280 PRKAB2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:630 genetic disease ISO RGD:735943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12281280 PRKAB2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12281280 PRKAB2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12281399 POMC proopiomelanocortin gene DOID:0050117 disease by infectious agent ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6088243|PMID:6254450 12281399 POMC proopiomelanocortin gene DOID:0050425 restless legs syndrome ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18464280 12281399 POMC proopiomelanocortin gene DOID:0050562 West syndrome ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10908253|PMID:11341487|PMID:1324751|PMID:1327015|PMID:1656808|PMID:17287597|PMID:19039989|PMID:1965992|PMID:20078871|PMID:2551692|PMID:2554740|PMID:2853496|PMID:2983143|PMID:6107850|PMID:6143199|PMID:6254450|PMID:6259007|PMID:8381257|PMID:8928979|PMID:8980841 12281399 POMC proopiomelanocortin gene DOID:0050589 inflammatory bowel disease ISO RGD:1331975 D RGD:9068941 20200609 RGD PMID:9145424|REF_RGD_ID:5508804 12281399 POMC proopiomelanocortin gene DOID:0050589 inflammatory bowel disease ISO RGD:1331975 D RGD:9068941 20200609 RGD protein:alternative form:large intestine epithelium: alphaMSH PMID:21741932|REF_RGD_ID:5508805 12281399 POMC proopiomelanocortin gene DOID:0050700 cardiomyopathy ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6143199 12281399 POMC proopiomelanocortin gene DOID:0060001 withdrawal disorder ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15689546|PMID:15714323|PMID:20738730|PMID:225122 12281399 POMC proopiomelanocortin gene DOID:0080784 urinary tract infection ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6254450 12281399 POMC proopiomelanocortin gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1352097 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417|PMID:32435502 12281399 POMC proopiomelanocortin gene DOID:10763 hypertension ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10100081|PMID:10474778|PMID:10513829|PMID:10658937|PMID:11071300|PMID:11071304|PMID:11132610|PMID:11193135|PMID:11518849|PMID:11560123|PMID:11703388|PMID:12872045|PMID:12887135|PMID:1316127|PMID:1321011|PMID:1321309|PMID:1327015|PMID:1330390|PMID:1334993|PMID:15110907|PMID:15132301|PMID:15554453|PMID:16053986|PMID:16243970|PMID:1649024|PMID:16546835|PMID:16620303|PMID:1664305|PMID:17324744|PMID:17954371|PMID:17994356|PMID:18067589|PMID:18487447|PMID:187612|PMID:19153526|PMID:19458537|PMID:20186125|PMID:20659135|PMID:2157753|PMID:216942|PMID:2455169|PMID:2551692|PMID:2821097|PMID:2822310|PMID:2849322|PMID:2992854|PMID:3001556|PMID:3015460|PMID:323586|PMID:4367732|PMID:6088243|PMID:6089027|PMID:6097376|PMID:6100240|PMID:6135010|PMID:6143199|PMID:6254450|PMID:6274577|PMID:6279500|PMID:6283272|PMID:76749|PMID:8136112|PMID:8261660|PMID:8279378|PMID:8713685|PMID:8800598|PMID:9056691|PMID:9535146 12281399 POMC proopiomelanocortin gene DOID:10914 amnestic disorder ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2841920 12281399 POMC proopiomelanocortin gene DOID:11476 osteoporosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19153526|PMID:3017235|PMID:4367732|PMID:6143199|PMID:6254450 12281399 POMC proopiomelanocortin gene DOID:1156 chondrocalcinosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8035395 12281399 POMC proopiomelanocortin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2536513|PMID:2831920|PMID:2853496|PMID:8381257|PMID:8928979 12281399 POMC proopiomelanocortin gene DOID:12556 acute kidney tubular necrosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4358912|PMID:6254450 12281399 POMC proopiomelanocortin gene DOID:12679 nephrocalcinosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3017235 12281399 POMC proopiomelanocortin gene DOID:12849 autistic disorder ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8570775 12281399 POMC proopiomelanocortin gene DOID:13580 cholestasis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3421781 12281399 POMC proopiomelanocortin gene DOID:13884 sick sinus syndrome ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19039989 12281399 POMC proopiomelanocortin gene DOID:13934 facial paralysis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:4327920 12281399 POMC proopiomelanocortin gene DOID:150 disease of mental health ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18056188 12281399 POMC proopiomelanocortin gene DOID:1529 penile disease ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1358647|PMID:2825910|PMID:3033702 12281399 POMC proopiomelanocortin gene DOID:1596 depressive disorder ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18201294 12281399 POMC proopiomelanocortin gene DOID:1679 cystitis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1267567 12281399 POMC proopiomelanocortin gene DOID:182 calcinosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6143199 12281399 POMC proopiomelanocortin gene DOID:1826 epilepsy ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20708863 12281399 POMC proopiomelanocortin gene DOID:1909 melanoma ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24412703 12281399 POMC proopiomelanocortin gene DOID:1969 cerebral palsy ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8980841 12281399 POMC proopiomelanocortin gene DOID:2377 multiple sclerosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2843795|PMID:9664777 12281399 POMC proopiomelanocortin gene DOID:26 pancreas disease ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6143199 12281399 POMC proopiomelanocortin gene DOID:2703 synovitis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8035395 12281399 POMC proopiomelanocortin gene DOID:2843 long QT syndrome ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19931775 12281399 POMC proopiomelanocortin gene DOID:2914 immune system disease ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6107850 12281399 POMC proopiomelanocortin gene DOID:2921 glomerulonephritis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4368615|PMID:6300362 12281399 POMC proopiomelanocortin gene DOID:2945 severe acute respiratory syndrome ISO RGD:1352097 D RGD:9068941 20200609 RGD protein:decreased expression:adenohypophysis (human) PMID:20651845|REF_RGD_ID:28711759 12281399 POMC proopiomelanocortin gene DOID:2987 familial Mediterranean fever ISO RGD:1352097 D RGD:9068941 20200609 RGD protein: decreassed expression: plasma: ACTH PMID:21428190|REF_RGD_ID:5508806 12281399 POMC proopiomelanocortin gene DOID:3021 acute kidney failure ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17216604 12281399 POMC proopiomelanocortin gene DOID:3312 bipolar disorder ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2843795|PMID:9664777 12281399 POMC proopiomelanocortin gene DOID:3946 pituitary-dependent Cushing's disease ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16809932 12281399 POMC proopiomelanocortin gene DOID:3952 adrenal cortex disease ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11370731 12281399 POMC proopiomelanocortin gene DOID:437 myasthenia gravis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:4323972 12281399 POMC proopiomelanocortin gene DOID:4450 renal cell carcinoma ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2844640 12281399 POMC proopiomelanocortin gene DOID:4500 hypokalemia ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10100081|PMID:1327015|PMID:323586|PMID:4323972|PMID:6254450|PMID:6258369|PMID:6279499|PMID:8035395|PMID:8562174 12281399 POMC proopiomelanocortin gene DOID:535 sleep disorder ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18464280 12281399 POMC proopiomelanocortin gene DOID:552 pneumonia ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6254450 12281399 POMC proopiomelanocortin gene DOID:557 kidney disease ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6143199 12281399 POMC proopiomelanocortin gene DOID:5614 eye disease ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4340068 12281399 POMC proopiomelanocortin gene DOID:576 proteinuria ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4368615 12281399 POMC proopiomelanocortin gene DOID:5805 subvalvular aortic stenosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1965992 12281399 POMC proopiomelanocortin gene DOID:6000 congestive heart failure ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3026683|PMID:8277081 12281399 POMC proopiomelanocortin gene DOID:630 genetic disease ISO RGD:1352097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356970 12281399 POMC proopiomelanocortin gene DOID:77 gastrointestinal system disease ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6254450 12281399 POMC proopiomelanocortin gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4371370 12281399 POMC proopiomelanocortin gene DOID:8398 osteoarthritis ISO RGD:1352097 D RGD:9068941 20200609 RGD PMID:21378032|REF_RGD_ID:5508809 12281399 POMC proopiomelanocortin gene DOID:9000197 Edema ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1459535|PMID:4327920|PMID:8562174 12281399 POMC proopiomelanocortin gene DOID:9000363 Hematuria ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1267567|PMID:1324751 12281399 POMC proopiomelanocortin gene DOID:9000641 Pain ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20084599|PMID:4345333|PMID:6094376 12281399 POMC proopiomelanocortin gene DOID:9000790 Postoperative Complications ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4371370 12281399 POMC proopiomelanocortin gene DOID:9000972 Fever ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 12281399 POMC proopiomelanocortin gene DOID:9001048 Nociceptive Pain ISO RGD:1331975 D RGD:9068941 20200609 RGD PMID:21380811|REF_RGD_ID:5508807 12281399 POMC proopiomelanocortin gene DOID:9001087 Opsoclonus-Myoclonus Syndrome ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1318289 12281399 POMC proopiomelanocortin gene DOID:9001173 ACTH Syndrome, Ectopic ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1459535|PMID:2844640|PMID:4367732|PMID:8562174 12281399 POMC proopiomelanocortin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16508911|PMID:16511523 12281399 POMC proopiomelanocortin gene DOID:9001579 Neurogenic Inflammation ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19333140 12281399 POMC proopiomelanocortin gene DOID:9001581 Constipation ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3421781 12281399 POMC proopiomelanocortin gene DOID:9001738 Hypercalciuria ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1324751|PMID:3017235 12281399 POMC proopiomelanocortin gene DOID:9001981 Weight Loss ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11193135|PMID:1459535 12281399 POMC proopiomelanocortin gene DOID:9002315 Kidney Calculi ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1324751 12281399 POMC proopiomelanocortin gene DOID:9002669 Hypoxia ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11311734|PMID:24412703 12281399 POMC proopiomelanocortin gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6254450 12281399 POMC proopiomelanocortin gene DOID:9002801 Recurrence ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20078871 12281399 POMC proopiomelanocortin gene DOID:9002916 Hyperphagia ISO RGD:1352097 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:15189116|REF_RGD_ID:1357925 12281399 POMC proopiomelanocortin gene DOID:9003049 Femur Head Necrosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4326745 12281399 POMC proopiomelanocortin gene DOID:9003122 Rhabdomyoma ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10908253 12281399 POMC proopiomelanocortin gene DOID:9003194 Eye Pain ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4327920 12281399 POMC proopiomelanocortin gene DOID:9003805 Catalepsy ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:2999739|PMID:6329457 12281399 POMC proopiomelanocortin gene DOID:9003936 Cardiomegaly ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19039989|PMID:1965992|PMID:2821097|PMID:6088243|PMID:8279378|PMID:8381257 12281399 POMC proopiomelanocortin gene DOID:9004507 Hirsutism ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1324751 12281399 POMC proopiomelanocortin gene DOID:9004590 Acute Liver Failure ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15313186 12281399 POMC proopiomelanocortin gene DOID:9004657 Weight Gain ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4367732|PMID:6143199 12281399 POMC proopiomelanocortin gene DOID:9004751 Nausea ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11141589 12281399 POMC proopiomelanocortin gene DOID:9005103 Proopiomelanocortin Deficiency ISO RGD:1352097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Obesity, adrenal insufficiency, and red hair due to POMC deficiency | ClinVar Annotator: match by term: Proopiomelanocortin deficiency PMID:12165561|PMID:14557433|PMID:16459314|PMID:18091355|PMID:18697863|PMID:18765507|PMID:19221669|PMID:20349035|PMID:23293326|PMID:23649472|PMID:25741868|PMID:27906547|PMID:28492532|PMID:9620771 12281399 POMC proopiomelanocortin gene DOID:9005103 Proopiomelanocortin Deficiency susceptibility ISO RGD:1352097 D RGD:7240710 20230517 OMIM 12281399 POMC proopiomelanocortin gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:6088243 12281399 POMC proopiomelanocortin gene DOID:9005158 Cushing Syndrome ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19153526|PMID:6088243 12281399 POMC proopiomelanocortin gene DOID:9005253 Hypernatremia ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10100081|PMID:6279499 12281399 POMC proopiomelanocortin gene DOID:9005372 Inflammation ISO RGD:1331975 D RGD:9068941 20200609 RGD Protein:::alphaMSH[11-13] PMID:2550304|REF_RGD_ID:5508803 12281399 POMC proopiomelanocortin gene DOID:9005372 Inflammation ISO RGD:1331975 D RGD:9068941 20200609 RGD protein: increased expression PMID:21378282|REF_RGD_ID:5508808 12281399 POMC proopiomelanocortin gene DOID:9005372 Inflammation ISO RGD:1352097 D RGD:9068941 20200609 RGD protein: increased expression PMID:21378282|REF_RGD_ID:5508808 12281399 POMC proopiomelanocortin gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11750770|PMID:16520439|PMID:18201294|PMID:19279569 12281399 POMC proopiomelanocortin gene DOID:9005749 Necrosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7608651 12281399 POMC proopiomelanocortin gene DOID:9006024 Hypotension ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1676337|PMID:2536002|PMID:2566129|PMID:2636709 12281399 POMC proopiomelanocortin gene DOID:9006570 Sacroiliitis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19533139 12281399 POMC proopiomelanocortin gene DOID:9007001 Bradycardia ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1676337|PMID:19039989|PMID:2636709 12281399 POMC proopiomelanocortin gene DOID:9007102 Myocardial Ischemia ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10908253 12281399 POMC proopiomelanocortin gene DOID:9007590 Gouty Arthritis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8035395 12281399 POMC proopiomelanocortin gene DOID:9007633 Body Weight ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1316127 12281399 POMC proopiomelanocortin gene DOID:9007730 Burns ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2968671 12281399 POMC proopiomelanocortin gene DOID:9008217 Hemorrhage ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1267567|PMID:3014908 12281399 POMC proopiomelanocortin gene DOID:9008760 Oliguria ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6254450 12281399 POMC proopiomelanocortin gene DOID:9009050 Hypocalcemia ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3017235 12281399 POMC proopiomelanocortin gene DOID:9351 diabetes mellitus ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19153526 12281399 POMC proopiomelanocortin gene DOID:9409 diabetes insipidus ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:6258694 12281399 POMC proopiomelanocortin gene DOID:9452 fatty liver disease ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:167377 12281399 POMC proopiomelanocortin gene DOID:9970 obesity ISO RGD:1352097 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, early-onset, susceptibility to PMID:10193875|PMID:11941477|PMID:12165561|PMID:14557433|PMID:16459314|PMID:18091355|PMID:18697863|PMID:19221669|PMID:20349035|PMID:23293326|PMID:25741868|PMID:28492532|PMID:29970488|PMID:8302318|PMID:9620771|PMID:9768693 12281399 POMC proopiomelanocortin gene DOID:9970 obesity ISO RGD:1352097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, early-onset, susceptibility to PMID:10193875|PMID:11941477|PMID:12165561|PMID:14557433|PMID:16459314|PMID:18091355|PMID:18697863|PMID:19221669|PMID:20349035|PMID:23293326|PMID:23649472|PMID:25741868|PMID:27906547|PMID:28492532|PMID:29970488|PMID:8302318|PMID:9620771|PMID:9768693 12281399 POMC proopiomelanocortin gene DOID:9970 obesity susceptibility ISO RGD:1352097 D RGD:7240710 20230517 OMIM 12281399 POMC proopiomelanocortin gene DOID:9976 heroin dependence ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18201294 12281406 SPATC1 spermatogenesis and centriole associated 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1344287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12281406 SPATC1 spermatogenesis and centriole associated 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1344287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12281406 SPATC1 spermatogenesis and centriole associated 1 gene DOID:4621 holoprosencephaly ISO RGD:1344287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12281406 SPATC1 spermatogenesis and centriole associated 1 gene DOID:630 genetic disease ISO RGD:1344287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12281425 FAM210A family with sequence similarity 210 member A gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1352066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12281425 FAM210A family with sequence similarity 210 member A gene DOID:1059 intellectual disability ISO RGD:1352066 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12281425 FAM210A family with sequence similarity 210 member A gene DOID:630 genetic disease ISO RGD:1352066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12281425 FAM210A family with sequence similarity 210 member A gene DOID:9002589 Bone Fractures ISO RGD:1352066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22504420 12281433 GARIN5B golgi associated RAB2 interactor family member 5B gene DOID:630 genetic disease ISO RGD:1348410 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12281449 HDAC3 histone deacetylase 3 gene DOID:0070227 intrahepatic cholestasis of pregnancy severity ISO RGD:731326 D RGD:9068941 20200609 RGD PMID:28697498|REF_RGD_ID:14696655 12281449 HDAC3 histone deacetylase 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731326 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12281449 HDAC3 histone deacetylase 3 gene DOID:10286 prostate carcinoma ISO RGD:731326 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18212746|REF_RGD_ID:2306214 12281449 HDAC3 histone deacetylase 3 gene DOID:114 heart disease ISO RGD:731326 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18625706 12281449 HDAC3 histone deacetylase 3 gene DOID:12858 Huntington's disease ISO RGD:731327 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:22965876|REF_RGD_ID:10402189 12281449 HDAC3 histone deacetylase 3 gene DOID:12858 Huntington's disease ISO RGD:731327 D RGD:9068941 20200609 RGD protein:increased expression:striatum: PMID:22918830|REF_RGD_ID:9590098 12281449 HDAC3 histone deacetylase 3 gene DOID:1875 impotence ISO RGD:619977 D RGD:9068941 20200609 RGD protein:increased expression:penis: PMID:24636283|REF_RGD_ID:9590194 12281449 HDAC3 histone deacetylase 3 gene DOID:1909 melanoma ISO RGD:731327 D RGD:9068941 20200609 RGD associated with Anaphylaxis; PMID:24619412|REF_RGD_ID:9590165 12281449 HDAC3 histone deacetylase 3 gene DOID:2394 ovarian cancer ISO RGD:731326 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17387270|REF_RGD_ID:2306215 12281449 HDAC3 histone deacetylase 3 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:731326 D RGD:9068941 20200609 RGD PMID:18714364|REF_RGD_ID:2306205 12281449 HDAC3 histone deacetylase 3 gene DOID:289 endometriosis ISO RGD:731327 D RGD:9068941 20220825 MouseDO OMIM:131200 12281449 HDAC3 histone deacetylase 3 gene DOID:299 adenocarcinoma ISO RGD:731326 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 12281449 HDAC3 histone deacetylase 3 gene DOID:3021 acute kidney failure ISO RGD:619977 D RGD:9068941 20200609 RGD PMID:21416250|REF_RGD_ID:10047111 12281449 HDAC3 histone deacetylase 3 gene DOID:3070 high grade glioma ISO RGD:731326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12281449 HDAC3 histone deacetylase 3 gene DOID:3070 high grade glioma disease_progression ISO RGD:731326 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain: PMID:23685192|REF_RGD_ID:9590201 12281449 HDAC3 histone deacetylase 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:731326 D RGD:9068941 20200609 RGD PMID:24482232|REF_RGD_ID:9588265 12281449 HDAC3 histone deacetylase 3 gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:731326 D RGD:9068941 20200609 RGD PMID:18714364|REF_RGD_ID:2306205 12281449 HDAC3 histone deacetylase 3 gene DOID:630 genetic disease ISO RGD:731326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10490031|PMID:17956988|PMID:24268577 12281449 HDAC3 histone deacetylase 3 gene DOID:6432 pulmonary hypertension ISO RGD:731326 D RGD:9068941 20200609 RGD protein:decreased expression:lung: PMID:22711276|REF_RGD_ID:9590133 12281449 HDAC3 histone deacetylase 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:731326 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 12281449 HDAC3 histone deacetylase 3 gene DOID:9000784 Fibrosis ISO RGD:619977 D RGD:9068941 20200609 RGD protein:increased expression:penis: PMID:24636283|REF_RGD_ID:9590194 12281449 HDAC3 histone deacetylase 3 gene DOID:9000918 Disease Progression ISO RGD:731326 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 12281449 HDAC3 histone deacetylase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731326 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 12281449 HDAC3 histone deacetylase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731327 D RGD:9068941 20200609 RGD associated with Anaphylaxis; PMID:24619412|REF_RGD_ID:9590165 12281449 HDAC3 histone deacetylase 3 gene DOID:9001981 Weight Loss ISO RGD:731326 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 12281449 HDAC3 histone deacetylase 3 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:619977 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:23716065|REF_RGD_ID:9588620 12281449 HDAC3 histone deacetylase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12281449 HDAC3 histone deacetylase 3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731326 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 12281449 HDAC3 histone deacetylase 3 gene DOID:9006646 Metabolic Syndrome ISO RGD:619977 D RGD:9068941 20200609 RGD PMID:21763752|REF_RGD_ID:9590183 12281449 HDAC3 histone deacetylase 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731326 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12281449 HDAC3 histone deacetylase 3 gene DOID:9007278 Anaphylaxis ISO RGD:731327 D RGD:9068941 20200609 RGD PMID:24619412|REF_RGD_ID:9590165 12281449 HDAC3 histone deacetylase 3 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:731327 D RGD:9068941 20230209 RGD PMID:33982231|REF_RGD_ID:155883171 12281449 HDAC3 histone deacetylase 3 gene DOID:9256 colorectal cancer ISO RGD:731326 D RGD:9068941 20200609 RGD mRNA:increased expression:colon: PMID:23724067|REF_RGD_ID:9590193 12281449 HDAC3 histone deacetylase 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731326 D RGD:9068941 20200609 RGD protein:decreased expression:pancreatic beta cell: PMID:22772764|REF_RGD_ID:9590127 12281471 AJUBA ajuba LIM protein gene DOID:0060439 lysinuric protein intolerance ISO RGD:1343876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12281471 AJUBA ajuba LIM protein gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1343876 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 12281471 AJUBA ajuba LIM protein gene DOID:630 genetic disease ISO RGD:1343876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12281471 AJUBA ajuba LIM protein gene DOID:9000265 Specific Granule Deficiency ISO RGD:1343876 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12281471 AJUBA ajuba LIM protein gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343876 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12281509 INPP5K inositol polyphosphate-5-phosphatase K gene DOID:0080197 congenital muscular dystrophy with cataracts and intellectual disability ISO RGD:1604357 D RGD:7240710 20190315 OMIM 12281509 INPP5K inositol polyphosphate-5-phosphatase K gene DOID:0080197 congenital muscular dystrophy with cataracts and intellectual disability ISO RGD:1604357 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy with cataracts and intellectual disability PMID:25741868|PMID:28190456|PMID:28190459|PMID:28492532|PMID:33792664 12281509 INPP5K inositol polyphosphate-5-phosphatase K gene DOID:630 genetic disease ISO RGD:1604357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26940976|PMID:28190459 12281533 H2BC18 H2B clustered histone 18 gene DOID:1540 parathyroid carcinoma ISO RGD:1603451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12281533 H2BC18 H2B clustered histone 18 gene DOID:630 genetic disease ISO RGD:1603451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12281533 H2BC18 H2B clustered histone 18 gene DOID:9006862 PERITONEAL GLIOMATOSIS ISO RGD:1603451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peritoneal Gliomatosis 12281533 H2BC18 H2B clustered histone 18 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12281538 OR5M13 olfactory receptor family 5 subfamily M member 13 gene DOID:1059 intellectual disability ISO RGD:1343585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12281538 OR5M13 olfactory receptor family 5 subfamily M member 13 gene DOID:630 genetic disease ISO RGD:1343585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12281541 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1319106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 12281541 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1319106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:11743580|PMID:25741868|PMID:28492532|PMID:31673878 12281541 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:1319106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate PMID:25741868|PMID:28492532 12281541 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ISO RGD:1319106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 PMID:28492532 12281541 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1319106 D RGD:7240710 20180130 OMIM 12281541 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1319106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K PMID:11743579|PMID:11743580|PMID:12499475|PMID:12566285|PMID:12601710|PMID:12707075|PMID:14561495|PMID:15192818|PMID:15805163|PMID:16172208|PMID:16199547|PMID:17039978|PMID:17433678|PMID:18021315|PMID:18231710|PMID:18421898|PMID:18492089|PMID:18504680|PMID:18812441|PMID:18991200|PMID:19089472|PMID:19500985|PMID:19782751|PMID:20232219|PMID:20301641|PMID:20301711|PMID:20685671|PMID:20849849|PMID:21199105|PMID:21212451|PMID:21519004|PMID:21681106|PMID:21692914|PMID:21753178|PMID:21840889|PMID:21890626|PMID:22206013|PMID:22546700|PMID:23456260|PMID:23628762|PMID:23963299|PMID:25231362|PMID:25741868|PMID:26467025|PMID:26525999|PMID:26848201|PMID:27549087|PMID:28220846|PMID:28244113|PMID:28492532|PMID:28495047|PMID:28751717|PMID:29372391|PMID:31673878|PMID:32183277|PMID:32376792|PMID:33187793|PMID:33903021 12281541 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C ISO RGD:1319106 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G327D (human) PMID:21365284|REF_RGD_ID:12738395 12281541 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:0110185 Charcot-Marie-Tooth disease type 4A ISO RGD:1319106 D RGD:7240710 20180130 OMIM 12281541 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:0110185 Charcot-Marie-Tooth disease type 4A ISO RGD:1319106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A PMID:11743579|PMID:11743580|PMID:12499475|PMID:12566285|PMID:12601710|PMID:12707075|PMID:12868504|PMID:14561495|PMID:15192818|PMID:15377708|PMID:15469949|PMID:15805163|PMID:15944907|PMID:16172208|PMID:16199547|PMID:17039978|PMID:17433678|PMID:17576681|PMID:18021315|PMID:18231710|PMID:18421898|PMID:18492089|PMID:18504680|PMID:18812441|PMID:18991200|PMID:19340293|PMID:19500985|PMID:19782751|PMID:20232219|PMID:20301641|PMID:20301711|PMID:20685671|PMID:20849849|PMID:21199105|PMID:21212451|PMID:21322820|PMID:21326314|PMID:21365284|PMID:21519004|PMID:21692914|PMID:21753178|PMID:21840889|PMID:21890626|PMID:21965300|PMID:22206013|PMID:22546700|PMID:22971097|PMID:23456260|PMID:23466821|PMID:23628762|PMID:23963299|PMID:25231362|PMID:25429913|PMID:25614874|PMID:257|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26525999|PMID:26648837|PMID:26848201|PMID:27549087|PMID:27841286|PMID:28220846|PMID:28244113|PMID:28492532|PMID:28495047|PMID:28751717|PMID:28902413|PMID:29184355|PMID:29372391|PMID:31673878|PMID:31827005|PMID:32183277|PMID:32298515|PMID:32376792|PMID:33136338|PMID:33179230|PMID:33187793|PMID:33219631|PMID:33477664|PMID:33903021|PMID:34169998|PMID:34366782|PMID:9536098 12281541 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:0110201 Charcot-Marie-Tooth disease recessive intermediate A ISO RGD:1319106 D RGD:7240710 20180130 OMIM 12281541 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:0110201 Charcot-Marie-Tooth disease recessive intermediate A ISO RGD:1319106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate A PMID:11743580|PMID:12499475|PMID:12566285|PMID:14561495|PMID:16172208|PMID:16199547|PMID:17039978|PMID:17433678|PMID:18021315|PMID:18504680|PMID:18812441|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301711|PMID:21212451|PMID:21322820|PMID:21365284|PMID:21890626|PMID:25231362|PMID:25614874|PMID:25741868|PMID:26467025|PMID:27549087|PMID:28220846|PMID:28492532|PMID:31673878|PMID:32376792|PMID:33477664 12281541 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1319106 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:14561495|PMID:17039978|PMID:17433678|PMID:18504680|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301711|PMID:25231362|PMID:25741868|PMID:27549087|PMID:28492532 12281541 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1319106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11743580|PMID:12499475|PMID:12566285|PMID:12601710|PMID:12843336|PMID:12868504|PMID:14561495|PMID:15019704|PMID:15192818|PMID:15377708|PMID:15469949|PMID:15805163|PMID:15944907|PMID:16172208|PMID:16199547|PMID:16343542|PMID:17001820|PMID:17039978|PMID:17433678|PMID:18021315|PMID:18062449|PMID:18421898|PMID:18492089|PMID:18504680|PMID:18812441|PMID:18991200|PMID:19340293|PMID:19500985|PMID:19782751|PMID:20232219|PMID:20301641|PMID:20301711|PMID:20685671|PMID:20849849|PMID:21199105|PMID:21322820|PMID:21326314|PMID:21519004|PMID:21692914|PMID:21753178|PMID:21890626|PMID:21965300|PMID:22206013|PMID:22546700|PMID:22730194|PMID:22971097|PMID:23456260|PMID:23466821|PMID:23628762|PMID:23963299|PMID:24078732|PMID:24627108|PMID:25231362|PMID:25337607|PMID:25429913|PMID:25614874|PMID:257|PMID:25741868|PMID:26467025|PMID:26525999|PMID:26848201|PMID:27549087|PMID:27841286|PMID:28220846|PMID:28244113|PMID:28492532|PMID:28495047|PMID:28751717|PMID:29372391|PMID:31673878|PMID:32376792|PMID:33187793|PMID:34366782 12281541 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:1389 polyneuropathy ISO RGD:1319106 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:14561495|PMID:17039978|PMID:17433678|PMID:18504680|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301711|PMID:25231362|PMID:25741868|PMID:27549087|PMID:28492532 12281541 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:2491 sensory peripheral neuropathy ISO RGD:1319106 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sensory neuropathy PMID:14561495|PMID:17039978|PMID:17433678|PMID:18504680|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301711|PMID:25231362|PMID:25741868|PMID:27549087|PMID:28492532 12281541 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:574 peripheral nervous system disease ISO RGD:1319106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:15377708|PMID:18421898|PMID:18504680|PMID:20301641|PMID:20301711|PMID:21965300|PMID:25429913|PMID:25741868|PMID:28244113|PMID:28492532|PMID:28751717|PMID:31673878 12281541 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:630 genetic disease ISO RGD:1319106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12499475|PMID:14561495|PMID:15805163|PMID:17039978|PMID:17433678|PMID:17576681|PMID:18021315|PMID:18492089|PMID:18504680|PMID:18812441|PMID:18991200|PMID:19500985|PMID:19782751|PMID:20232219|PMID:20301641|PMID:20301711|PMID:20849849|PMID:21199105|PMID:21322820|PMID:21326314|PMID:21753178|PMID:21890626|PMID:22206013|PMID:22546700|PMID:25231362|PMID:25614874|PMID:257|PMID:25741868|PMID:26467025|PMID:27549087|PMID:28244113|PMID:28492532|PMID:28495047|PMID:32376792|PMID:34366782|PMID:9536098 12281541 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:7319 axonal neuropathy ISO RGD:1319106 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Axonal neuropathy PMID:14561495|PMID:17039978|PMID:17433678|PMID:18504680|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301711|PMID:25231362|PMID:25741868|PMID:27549087|PMID:28492532 12281541 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:870 neuropathy ISO RGD:1319106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:15377708|PMID:18421898|PMID:18504680|PMID:20301641|PMID:20301711|PMID:21965300|PMID:25429913|PMID:25741868|PMID:28244113|PMID:28492532|PMID:28751717|PMID:31673878 12281541 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:9003332 Charcot-Marie-Tooth Disease Type 4A, Axonal Form ISO RGD:1319106 D RGD:7240710 20180130 OMIM 12281541 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:9003332 Charcot-Marie-Tooth Disease Type 4A, Axonal Form ISO RGD:1319106 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | ClinVar Annotator: match by term: Charcot-Marie-Tooth with Vocal Cord Paresis | ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive PMID:11743579|PMID:11743580|PMID:12499475|PMID:12566285|PMID:12601710|PMID:12707075|PMID:14561495|PMID:15019704|PMID:15805163|PMID:17039978|PMID:17433678|PMID:18504680|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301641|PMID:20301711|PMID:20849849|PMID:21365284|PMID:21519004|PMID:21840889|PMID:25231362|PMID:25741868|PMID:26467025|PMID:26848201|PMID:27549087|PMID:28492532|PMID:32376792|PMID:33187793|PMID:33477664 12281541 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:9005421 Paget Disease of Bone 5, Juvenile-Onset ISO RGD:1319106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Elevated alkaline phosphatase PMID:14561495|PMID:17039978|PMID:17433678|PMID:18504680|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301711|PMID:25231362|PMID:25741868|PMID:28492532 12281541 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:9005421 Paget Disease of Bone 5, Juvenile-Onset ISO RGD:1319106 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Elevated alkaline phosphatase PMID:14561495|PMID:17039978|PMID:17433678|PMID:18504680|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301711|PMID:25231362|PMID:25741868|PMID:27549087|PMID:28492532 12281541 GDAP1 ganglioside induced differentiation associated protein 1 gene DOID:9008305 Talipes Cavus ISO RGD:1319106 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pes cavus PMID:28492532 12281557 GJC1 gap junction protein gamma 1 gene DOID:10763 hypertension ISO RGD:1350984 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19109587 12281557 GJC1 gap junction protein gamma 1 gene DOID:630 genetic disease ISO RGD:1350984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12281569 P3H1 prolyl 3-hydroxylase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1602868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12281569 P3H1 prolyl 3-hydroxylase 1 gene DOID:0110336 osteogenesis imperfecta type 8 ISO RGD:1602868 D RGD:7240710 20180130 OMIM 12281569 P3H1 prolyl 3-hydroxylase 1 gene DOID:0110336 osteogenesis imperfecta type 8 ISO RGD:1602868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 8 PMID:16199547|PMID:17277775|PMID:17576681|PMID:18566967|PMID:19088120|PMID:21667357|PMID:22281939|PMID:22615817|PMID:23613367|PMID:24498616|PMID:25741868|PMID:26634552|PMID:27509835|PMID:27545679|PMID:27864101|PMID:28492532|PMID:29150909|PMID:29499418|PMID:29620724|PMID:32123938|PMID:32770541|PMID:3545499|PMID:9536098 12281569 P3H1 prolyl 3-hydroxylase 1 gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:1602868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:22615817|PMID:25741868|PMID:27864101|PMID:28492532|PMID:32770541 12281569 P3H1 prolyl 3-hydroxylase 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:1602868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:17277775|PMID:17576681|PMID:18566967|PMID:19088120|PMID:22281939|PMID:24498616|PMID:25741868|PMID:26634552|PMID:28492532|PMID:31319225|PMID:9536098 12281569 P3H1 prolyl 3-hydroxylase 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:1602868 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:16199547|PMID:17277775|PMID:17576681|PMID:18566967|PMID:19088120|PMID:22281939|PMID:24498616|PMID:25741868|PMID:26634552|PMID:27509835|PMID:28492532|PMID:29150909|PMID:31319225|PMID:9536098 12281569 P3H1 prolyl 3-hydroxylase 1 gene DOID:630 genetic disease ISO RGD:1602868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12281595 KAZN kazrin, periplakin interacting protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604041 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12281595 KAZN kazrin, periplakin interacting protein gene DOID:630 genetic disease ISO RGD:1604041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12281613 SLC6A19 solute carrier family 6 member 19 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1604954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 12281613 SLC6A19 solute carrier family 6 member 19 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1604954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 12281613 SLC6A19 solute carrier family 6 member 19 gene DOID:0112265 iminoglycinuria ISO RGD:1604954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Iminoglycinuria PMID:25741868|PMID:28492532 12281613 SLC6A19 solute carrier family 6 member 19 gene DOID:1060 Hartnup disease ISO RGD:1604954 D RGD:7240710 20180130 OMIM 12281613 SLC6A19 solute carrier family 6 member 19 gene DOID:1060 Hartnup disease ISO RGD:1604954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neutral 1 amino acid transport defect PMID:15286787|PMID:15286788|PMID:16199547|PMID:17555458|PMID:18484095|PMID:19033659|PMID:19185582|PMID:19472175|PMID:20399395|PMID:21814048|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28924877 12281613 SLC6A19 solute carrier family 6 member 19 gene DOID:10763 hypertension ISO RGD:1594328 D RGD:9068941 20200609 RGD mRNA:increased expression PMID:17264310|REF_RGD_ID:1600036 12281613 SLC6A19 solute carrier family 6 member 19 gene DOID:630 genetic disease ISO RGD:1604954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12281613 SLC6A19 solute carrier family 6 member 19 gene DOID:9002189 High Myopia ISO RGD:1604954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: High myopia PMID:15286788|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12281613 SLC6A19 solute carrier family 6 member 19 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1604954 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 12281613 SLC6A19 solute carrier family 6 member 19 gene DOID:9008487 Glycinuria with or without Oxalate Urolithiasis ISO RGD:1604954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperglycinuria | ClinVar Annotator: match by term: IMINOGLYCINURIA TYPE II PMID:15286787|PMID:15286788|PMID:16199547|PMID:17555458|PMID:17576681|PMID:18484095|PMID:19033659|PMID:19185582|PMID:19472175|PMID:21814048|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28924877|PMID:30626930|PMID:9536098 12281701 TFF2 trefoil factor 2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:731368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12281701 TFF2 trefoil factor 2 gene DOID:0110266 cataract 9 multiple types ISO RGD:731368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12281701 TFF2 trefoil factor 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:731368 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16467092|REF_RGD_ID:2291999 12281701 TFF2 trefoil factor 2 gene DOID:630 genetic disease ISO RGD:731368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12281701 TFF2 trefoil factor 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:731368 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12281701 TFF2 trefoil factor 2 gene DOID:9004610 Acute Lung Injury ISO RGD:731368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19880587 12281701 TFF2 trefoil factor 2 gene DOID:9006535 Hookworm Infections ISO RGD:731369 D RGD:9068941 20201015 RGD PMID:22329990|REF_RGD_ID:39938827 12281701 TFF2 trefoil factor 2 gene DOID:9008114 Helicobacter Infections ISO RGD:731368 D RGD:9068941 20200609 RGD protein:increased expression:stomach epithelium PMID:15280409|REF_RGD_ID:7364760 12281701 TFF2 trefoil factor 2 gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:731369 D RGD:9068941 20200828 RGD mRNA:altered expression:gastric antrum (mouse) PMID:29085807|REF_RGD_ID:38549349 12281701 TFF2 trefoil factor 2 gene DOID:9263 homocystinuria ISO RGD:731368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12281701 TFF2 trefoil factor 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:731368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12281709 ESR2 estrogen receptor 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:14500559|REF_RGD_ID:5509042 12281709 ESR2 estrogen receptor 2 gene DOID:0050851 glomerulosclerosis susceptibility ISO RGD:10552 D RGD:9068941 20200609 RGD protein:decreased expression:renal glomerulus (mouse) PMID:12000739|REF_RGD_ID:7364801 12281709 ESR2 estrogen receptor 2 gene DOID:0050902 medulloblastoma ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21351254 12281709 ESR2 estrogen receptor 2 gene DOID:0060180 colitis ISO RGD:10552 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon PMID:21252046|REF_RGD_ID:5508810 12281709 ESR2 estrogen receptor 2 gene DOID:0060180 colitis ISO RGD:2582 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon PMID:21252046|REF_RGD_ID:5508810 12281709 ESR2 estrogen receptor 2 gene DOID:0060224 atrial fibrillation ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12281709 ESR2 estrogen receptor 2 gene DOID:0080500 ovarian dysgenesis 8 ISO RGD:69213 D RGD:7240710 20190315 OMIM 12281709 ESR2 estrogen receptor 2 gene DOID:0080500 ovarian dysgenesis 8 ISO RGD:69213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 8 PMID:30113650 12281709 ESR2 estrogen receptor 2 gene DOID:0080600 COVID-19 ISO RGD:69213 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12281709 ESR2 estrogen receptor 2 gene DOID:10283 prostate cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps, haplotype:multiple (human) PMID:17932344|REF_RGD_ID:8694101 12281709 ESR2 estrogen receptor 2 gene DOID:10591 pre-eclampsia ISO RGD:69213 D RGD:9068941 20200609 RGD PMID:15894829|REF_RGD_ID:1581016 12281709 ESR2 estrogen receptor 2 gene DOID:10652 Alzheimer's disease ISO RGD:10552 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:15916731|REF_RGD_ID:5508772 12281709 ESR2 estrogen receptor 2 gene DOID:10652 Alzheimer's disease ISO RGD:69213 D RGD:9068941 20200609 RGD protein:decreased expression:choroid plexus PMID:15082146|REF_RGD_ID:5508784 12281709 ESR2 estrogen receptor 2 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNPs:3' utr: (rs4986938), (rs1255953) (human) PMID:17132983|REF_RGD_ID:5508768 12281709 ESR2 estrogen receptor 2 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps:introns:IVS3-1880C>T, IVS4+1231C>T (rs1271573, rs1256043) (human) PMID:15944651|REF_RGD_ID:8693346 12281709 ESR2 estrogen receptor 2 gene DOID:1070 primary open angle glaucoma ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes PMID:18195227|REF_RGD_ID:8553056 12281709 ESR2 estrogen receptor 2 gene DOID:1070 primary open angle glaucoma severity ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps:introns: IVS3 T>C, IVS8 A>G (rs1256031, rs4986938) (human) PMID:20399928|REF_RGD_ID:8694092 12281709 ESR2 estrogen receptor 2 gene DOID:10763 hypertension ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:11799247|REF_RGD_ID:734949 12281709 ESR2 estrogen receptor 2 gene DOID:10763 hypertension ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:23608653|REF_RGD_ID:7364951 12281709 ESR2 estrogen receptor 2 gene DOID:10763 hypertension ISO RGD:69213 D RGD:9068941 20200609 RGD PMID:11185739|PMID:15167447|REF_RGD_ID:1581015|REF_RGD_ID:1581017 12281709 ESR2 estrogen receptor 2 gene DOID:10892 hypospadias susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps, repeat:promoter, 3' utr:rs2987983, rs10483774, g.dupCA (rs1256062) (human) PMID:17579196|REF_RGD_ID:1626506 12281709 ESR2 estrogen receptor 2 gene DOID:11054 urinary bladder cancer ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16700038 12281709 ESR2 estrogen receptor 2 gene DOID:11054 urinary bladder cancer severity ISO RGD:69213 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder urothelium (human) PMID:23612777|REF_RGD_ID:7364758 12281709 ESR2 estrogen receptor 2 gene DOID:11132 prostatic hypertrophy treatment ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:17068134|REF_RGD_ID:8552985 12281709 ESR2 estrogen receptor 2 gene DOID:11476 osteoporosis ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:21421090|REF_RGD_ID:10045841 12281709 ESR2 estrogen receptor 2 gene DOID:11476 osteoporosis ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:3'utr:*39A>G (human) PMID:16530497|REF_RGD_ID:10045825 12281709 ESR2 estrogen receptor 2 gene DOID:11476 osteoporosis susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNP, haplotypes: :-1213T>C (human) PMID:16777502|REF_RGD_ID:1626507 12281709 ESR2 estrogen receptor 2 gene DOID:11476 osteoporosis susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:repeat:3' utr: g.dupCA (human) PMID:22948905|REF_RGD_ID:7364765 12281709 ESR2 estrogen receptor 2 gene DOID:11476 osteoporosis treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:16955786|REF_RGD_ID:8694129 12281709 ESR2 estrogen receptor 2 gene DOID:12361 Graves' disease no_association ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:repeat PMID:11180758|REF_RGD_ID:10045850 12281709 ESR2 estrogen receptor 2 gene DOID:12361 Graves' disease susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS8G>A (rs4986938) (human) PMID:17941906|REF_RGD_ID:8693348 12281709 ESR2 estrogen receptor 2 gene DOID:13949 interstitial cystitis ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:17522255|REF_RGD_ID:7364800 12281709 ESR2 estrogen receptor 2 gene DOID:14330 Parkinson's disease onset ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:polymorphism: :1730A>G(human) PMID:15219649|REF_RGD_ID:5508776 12281709 ESR2 estrogen receptor 2 gene DOID:1596 depressive disorder treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:24128867|REF_RGD_ID:10045672 12281709 ESR2 estrogen receptor 2 gene DOID:1612 breast cancer ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:repeat:3' utr:(CA)10-27 (human) PMID:17904846|REF_RGD_ID:8552977 12281709 ESR2 estrogen receptor 2 gene DOID:1612 breast cancer no_association ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:19321582|REF_RGD_ID:8694110 12281709 ESR2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:repeat:intron:IVS5(CA)9-31 (human) PMID:22792352|REF_RGD_ID:8694096 12281709 ESR2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:silent mutation:exon:g.1176C>G (rs1256054) (human) PMID:20604969|REF_RGD_ID:8694116 12281709 ESR2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-13950C>T (rs2987983) (human) PMID:19429453|REF_RGD_ID:8693347 12281709 ESR2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps, haplotype:exons:g.1082G>A, g.1730G>A, A>G (rs1256049, rs4986938, rs928554) (human) PMID:16261413|REF_RGD_ID:8694090 12281709 ESR2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps, haplotype:multiple (human) PMID:15604249|REF_RGD_ID:8552978 12281709 ESR2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps:5' utr, exon, 3' utr:-12214C>T (rs1271572), A>G (rs928554), A>G (rs4986938) (human) PMID:19739075|REF_RGD_ID:8693382 12281709 ESR2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps:intron, exon:g.14206C>T, g.33390C>G (rs1256054) (human) PMID:14633679|REF_RGD_ID:8694103 12281709 ESR2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD associated with Benign Breast Disease;DNA:snp:3' utr:*5772A>G (rs8018687) (human) PMID:16808847|REF_RGD_ID:8693380 12281709 ESR2 estrogen receptor 2 gene DOID:1612 breast cancer treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:23700476|REF_RGD_ID:7364946 12281709 ESR2 estrogen receptor 2 gene DOID:1679 cystitis ISO RGD:2582 D RGD:9068941 20200609 RGD protein:decreased expression:bladder PMID:16894621|REF_RGD_ID:5508847 12281709 ESR2 estrogen receptor 2 gene DOID:1712 aortic valve stenosis ISO RGD:69213 D RGD:9068941 20200609 RGD PMID:15533858|REF_RGD_ID:1580704 12281709 ESR2 estrogen receptor 2 gene DOID:1909 melanoma severity ISO RGD:69213 D RGD:9068941 20200609 RGD PMID:19153340|REF_RGD_ID:8553064 12281709 ESR2 estrogen receptor 2 gene DOID:1936 atherosclerosis ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:21697723|REF_RGD_ID:5508792 12281709 ESR2 estrogen receptor 2 gene DOID:2030 anxiety disorder treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:24015243|PMID:24631553|REF_RGD_ID:10045678|REF_RGD_ID:7364908 12281709 ESR2 estrogen receptor 2 gene DOID:219 colon cancer ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:19141699|REF_RGD_ID:8694174 12281709 ESR2 estrogen receptor 2 gene DOID:224 transient cerebral ischemia ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:23593292|REF_RGD_ID:7364962 12281709 ESR2 estrogen receptor 2 gene DOID:2316 brain ischemia ISO RGD:2582 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex, ipsilateral side (rat) PMID:10414967|REF_RGD_ID:8694344 12281709 ESR2 estrogen receptor 2 gene DOID:2671 transitional cell carcinoma ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16700038 12281709 ESR2 estrogen receptor 2 gene DOID:2773 contact dermatitis severity ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:18167605|REF_RGD_ID:8694123 12281709 ESR2 estrogen receptor 2 gene DOID:2841 asthma ISO RGD:2582 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (rat) PMID:18375789|REF_RGD_ID:8694127 12281709 ESR2 estrogen receptor 2 gene DOID:289 endometriosis ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:15618247|REF_RGD_ID:5509040 12281709 ESR2 estrogen receptor 2 gene DOID:289 endometriosis ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17625110 12281709 ESR2 estrogen receptor 2 gene DOID:299 adenocarcinoma ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17639508 12281709 ESR2 estrogen receptor 2 gene DOID:305 carcinoma ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 12281709 ESR2 estrogen receptor 2 gene DOID:3069 malignant astrocytoma ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24680642 12281709 ESR2 estrogen receptor 2 gene DOID:3393 coronary artery disease ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20559769 12281709 ESR2 estrogen receptor 2 gene DOID:3393 coronary artery disease ISO RGD:69213 D RGD:9068941 20200609 RGD PMID:16099331|REF_RGD_ID:1581014 12281709 ESR2 estrogen receptor 2 gene DOID:418 systemic scleroderma no_association ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNP:exon: PMID:19032828|REF_RGD_ID:8553058 12281709 ESR2 estrogen receptor 2 gene DOID:437 myasthenia gravis ISO RGD:69213 D RGD:9068941 20200609 RGD PMID:15661863|REF_RGD_ID:5509039 12281709 ESR2 estrogen receptor 2 gene DOID:630 genetic disease ISO RGD:69213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12281709 ESR2 estrogen receptor 2 gene DOID:6432 pulmonary hypertension ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:21700911|REF_RGD_ID:5508791 12281709 ESR2 estrogen receptor 2 gene DOID:657 adenoma ISO RGD:69213 D RGD:9068941 20200609 RGD ratio with Esr1;mRNA:decreased expression:thyroid gland (human) PMID:11721176|REF_RGD_ID:8694118 12281709 ESR2 estrogen receptor 2 gene DOID:7148 rheumatoid arthritis severity ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs1256049(human) PMID:21523342|REF_RGD_ID:5508794 12281709 ESR2 estrogen receptor 2 gene DOID:8283 peritonitis treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:23063870|REF_RGD_ID:8553243 12281709 ESR2 estrogen receptor 2 gene DOID:8398 osteoarthritis ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs1256031) (human) PMID:19884274|REF_RGD_ID:10045830 12281709 ESR2 estrogen receptor 2 gene DOID:8466 retinal degeneration ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:19799898|REF_RGD_ID:8694106 12281709 ESR2 estrogen receptor 2 gene DOID:8577 ulcerative colitis ISO RGD:69213 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon PMID:21252046|REF_RGD_ID:5508810 12281709 ESR2 estrogen receptor 2 gene DOID:8634 prostate carcinoma in situ ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16220300 12281709 ESR2 estrogen receptor 2 gene DOID:8634 prostate carcinoma in situ treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:22025007|REF_RGD_ID:8553211 12281709 ESR2 estrogen receptor 2 gene DOID:8692 myeloid leukemia ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:12740446|REF_RGD_ID:734951 12281709 ESR2 estrogen receptor 2 gene DOID:8719 in situ carcinoma ISO RGD:69213 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:17924141|REF_RGD_ID:2290024 12281709 ESR2 estrogen receptor 2 gene DOID:8778 Crohn's disease disease_progression ISO RGD:69213 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon PMID:21252046|REF_RGD_ID:5508810 12281709 ESR2 estrogen receptor 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:25105782|REF_RGD_ID:10045844 12281709 ESR2 estrogen receptor 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22166976 12281709 ESR2 estrogen receptor 2 gene DOID:9000310 Lung Injury ISO RGD:2582 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic PMID:20195535|REF_RGD_ID:4892252 12281709 ESR2 estrogen receptor 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 12281709 ESR2 estrogen receptor 2 gene DOID:9000528 Coronary Disease ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17367797 12281709 ESR2 estrogen receptor 2 gene DOID:9000555 Vulvar Lichen Sclerosus ISO RGD:69213 D RGD:9068941 20200609 RGD PMID:18076706|REF_RGD_ID:2293866 12281709 ESR2 estrogen receptor 2 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:16859701|REF_RGD_ID:8694176 12281709 ESR2 estrogen receptor 2 gene DOID:9001968 Hot Flashes treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:24823389|REF_RGD_ID:10045671 12281709 ESR2 estrogen receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:19285805|REF_RGD_ID:8553066 12281709 ESR2 estrogen receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:17056036|REF_RGD_ID:5508846 12281709 ESR2 estrogen receptor 2 gene DOID:9002234 Pituitary Neoplasms ISO RGD:69213 D RGD:9068941 20200609 RGD mRNA:decreased expression:pituitary gland (human) PMID:11081187|REF_RGD_ID:8694115 12281709 ESR2 estrogen receptor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15046698|PMID:16220300|PMID:16921512|PMID:17132221|PMID:17639508|PMID:26443449 12281709 ESR2 estrogen receptor 2 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:69213 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:17908481|REF_RGD_ID:2290023 12281709 ESR2 estrogen receptor 2 gene DOID:9002331 Knee Osteoarthritis ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:repeat:intron:c.1092+3607(CA)13-27 (human) PMID:16098017|REF_RGD_ID:10043199 12281709 ESR2 estrogen receptor 2 gene DOID:9002457 Experimental Arthritis ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:16269464|REF_RGD_ID:5508854 12281709 ESR2 estrogen receptor 2 gene DOID:9002473 Blast Crisis ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:12740446|REF_RGD_ID:734951 12281709 ESR2 estrogen receptor 2 gene DOID:9002720 Splenomegaly ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:12740446|REF_RGD_ID:734951 12281709 ESR2 estrogen receptor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:21182085|PMID:21565615|REF_RGD_ID:5508732|REF_RGD_ID:5508735 12281709 ESR2 estrogen receptor 2 gene DOID:9002775 Cognitive Dysfunction susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps:introns, exon:C>T (rs1256030), A>C (rs1256065), C>G (rs1255998) (human) PMID:17889406|REF_RGD_ID:8694087 12281709 ESR2 estrogen receptor 2 gene DOID:9003919 Urination Disorders treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:24259512|REF_RGD_ID:10045674 12281709 ESR2 estrogen receptor 2 gene DOID:9004118 Experimental Melanoma severity ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:20354658|REF_RGD_ID:8694122 12281709 ESR2 estrogen receptor 2 gene DOID:9004272 Varicose Ulcer ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon PMID:18070128|REF_RGD_ID:8553061 12281709 ESR2 estrogen receptor 2 gene DOID:9004272 Varicose Ulcer ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:(CA) dinucleotide repeat (human) PMID:16153823|REF_RGD_ID:1626508 12281709 ESR2 estrogen receptor 2 gene DOID:9004484 Sepsis ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:16755255|REF_RGD_ID:5508850 12281709 ESR2 estrogen receptor 2 gene DOID:9004538 Hearing Loss ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:18317592|REF_RGD_ID:8553063 12281709 ESR2 estrogen receptor 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:16627800|REF_RGD_ID:1581018 12281709 ESR2 estrogen receptor 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:69213 D RGD:9068941 20200609 RGD PMID:16280269|REF_RGD_ID:1581013 12281709 ESR2 estrogen receptor 2 gene DOID:9004764 Lithiasis ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21670126 12281709 ESR2 estrogen receptor 2 gene DOID:9004914 Postmenopausal Osteoporosis susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:3'utr:*39A>G (human) PMID:22335445|REF_RGD_ID:10045849 12281709 ESR2 estrogen receptor 2 gene DOID:9004914 Postmenopausal Osteoporosis susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNP: :-1213T>C (human) PMID:16777502|REF_RGD_ID:1626507 12281709 ESR2 estrogen receptor 2 gene DOID:9004914 Postmenopausal Osteoporosis susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:repeat:intron:IVS5-3919(CA)18-26 (human) PMID:17945165|REF_RGD_ID:10045847 12281709 ESR2 estrogen receptor 2 gene DOID:9005040 Hand Osteoarthritis no_association ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNPs:introns: (rs1256034, rs1256059, rs944460) (human) PMID:19884274|REF_RGD_ID:10045830 12281709 ESR2 estrogen receptor 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2582 D RGD:9068941 20200609 RGD protein:increased expression:epithelial cell, nucleus PMID:15637090|REF_RGD_ID:8552983 12281709 ESR2 estrogen receptor 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 12281709 ESR2 estrogen receptor 2 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:24078029|REF_RGD_ID:7364911 12281709 ESR2 estrogen receptor 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17133264 12281709 ESR2 estrogen receptor 2 gene DOID:9007096 Stroke treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:24406718|REF_RGD_ID:10045677 12281709 ESR2 estrogen receptor 2 gene DOID:9007181 Osteoporotic Fractures ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:25085540|REF_RGD_ID:10045675 12281709 ESR2 estrogen receptor 2 gene DOID:9007181 Osteoporotic Fractures ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNP: :-1213T>C (human) PMID:16777502|REF_RGD_ID:1626507 12281709 ESR2 estrogen receptor 2 gene DOID:9007181 Osteoporotic Fractures ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:intron, 3' utr:IVS2+520C>T, g.*39G>A (rs1256031, rs4986938) (human) PMID:16939403|REF_RGD_ID:10045848 12281709 ESR2 estrogen receptor 2 gene DOID:9007355 Hashimoto Disease no_association ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:repeat PMID:11180758|REF_RGD_ID:10045850 12281709 ESR2 estrogen receptor 2 gene DOID:9007456 Female Infertility ISO RGD:2582 D RGD:9068941 20200827 RGD PMID:28520870|REF_RGD_ID:38548924 12281709 ESR2 estrogen receptor 2 gene DOID:9007456 Female Infertility ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23710174 12281709 ESR2 estrogen receptor 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25437045 12281709 ESR2 estrogen receptor 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:18656630|REF_RGD_ID:5508820 12281709 ESR2 estrogen receptor 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15954165 12281709 ESR2 estrogen receptor 2 gene DOID:9008681 Deafness ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:19293293|REF_RGD_ID:8553051 12281709 ESR2 estrogen receptor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17132221|PMID:19434490|PMID:19548127 12281709 ESR2 estrogen receptor 2 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:69213 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:breast PMID:18234277|REF_RGD_ID:2290017 12281709 ESR2 estrogen receptor 2 gene DOID:9008939 Breast Neoplasms treatment ISO RGD:69213 D RGD:9068941 20200609 RGD PMID:24047421|REF_RGD_ID:8552984 12281709 ESR2 estrogen receptor 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:17336162|REF_RGD_ID:5508844 12281709 ESR2 estrogen receptor 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:69213 D RGD:9068941 20200609 RGD mRNA:decreased expression:leukocyte,mononuclear PMID:17874259|REF_RGD_ID:5508843 12281709 ESR2 estrogen receptor 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:69213 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:20627037|REF_RGD_ID:5508813 12281709 ESR2 estrogen receptor 2 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNP: :rs4986938 (human) PMID:20961965|REF_RGD_ID:5508738 12281709 ESR2 estrogen receptor 2 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:repeats:intron: PMID:20305046|REF_RGD_ID:5508817 12281709 ESR2 estrogen receptor 2 gene DOID:9256 colorectal cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:repeat:3' utr:g.dupCA (human) PMID:21884200|REF_RGD_ID:7364791 12281709 ESR2 estrogen receptor 2 gene DOID:987 alopecia no_association ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:22509838|REF_RGD_ID:8694094 12281709 ESR2 estrogen receptor 2 gene DOID:987 alopecia susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps:enhancer, intron g.-20301C>T, g.34493G>A, g.16688A>G (rs2022748, rs10137185, rs17101774) (human) PMID:22014031|REF_RGD_ID:8694095 12281709 ESR2 estrogen receptor 2 gene DOID:9970 obesity ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:22230815|REF_RGD_ID:8553199 12281725 CNDP2 carnosine dipeptidase 2 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1314094 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12281725 CNDP2 carnosine dipeptidase 2 gene DOID:1059 intellectual disability ISO RGD:1314094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 12281725 CNDP2 carnosine dipeptidase 2 gene DOID:630 genetic disease ISO RGD:1314094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12281725 CNDP2 carnosine dipeptidase 2 gene DOID:6420 pulmonary valve stenosis ISO RGD:1314094 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12281725 CNDP2 carnosine dipeptidase 2 gene DOID:8445 intestinal volvulus ISO RGD:1314094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12281725 CNDP2 carnosine dipeptidase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1314094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21573905 12281725 CNDP2 carnosine dipeptidase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12281725 CNDP2 carnosine dipeptidase 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1314094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12281725 CNDP2 carnosine dipeptidase 2 gene DOID:9452 fatty liver disease ISO RGD:1314094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12281747 CACNA2D3 calcium voltage-gated channel auxiliary subunit alpha2delta 3 gene DOID:630 genetic disease ISO RGD:1349571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12281747 CACNA2D3 calcium voltage-gated channel auxiliary subunit alpha2delta 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12281787 YTHDF2 YTH N6-methyladenosine RNA binding protein F2 gene DOID:630 genetic disease ISO RGD:1322711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12281787 YTHDF2 YTH N6-methyladenosine RNA binding protein F2 gene DOID:684 hepatocellular carcinoma ISO RGD:1322711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28104805 12281794 CDYL chromodomain Y like gene DOID:1826 epilepsy ISO RGD:1556912 D RGD:9068941 20220825 MouseDO 12281794 CDYL chromodomain Y like gene DOID:5409 lung small cell carcinoma ISO RGD:1606325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 12281794 CDYL chromodomain Y like gene DOID:630 genetic disease ISO RGD:1606325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12281815 KIAA0319 KIAA0319 gene DOID:630 genetic disease ISO RGD:1348294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12281858 FAM184B family with sequence similarity 184 member B gene DOID:303 substance-related disorder ISO RGD:2301273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12281858 FAM184B family with sequence similarity 184 member B gene DOID:630 genetic disease ISO RGD:2301273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12281885 PARP8 poly(ADP-ribose) polymerase family member 8 gene DOID:630 genetic disease ISO RGD:1350347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12281885 PARP8 poly(ADP-ribose) polymerase family member 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12281924 PARN poly(A)-specific ribonuclease gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1348471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25848748 12281924 PARN poly(A)-specific ribonuclease gene DOID:0070024 autosomal recessive dyskeratosis congenita 6 ISO RGD:1348471 D RGD:7240710 20180130 OMIM 12281924 PARN poly(A)-specific ribonuclease gene DOID:0070024 autosomal recessive dyskeratosis congenita 6 ISO RGD:1348471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 6 PMID:16199547|PMID:17576681|PMID:22834816|PMID:25640679|PMID:25741868|PMID:25848748|PMID:25893599|PMID:26342108|PMID:26482878|PMID:26810774|PMID:28099038|PMID:28192371|PMID:28414520|PMID:28492532|PMID:28495692|PMID:30523342|PMID:30525901|PMID:31268371|PMID:31448843|PMID:34298581|PMID:9536098|PMID:9736620 12281924 PARN poly(A)-specific ribonuclease gene DOID:0110848 xeroderma pigmentosum group F ISO RGD:1348471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group F PMID:28492532 12281924 PARN poly(A)-specific ribonuclease gene DOID:2729 dyskeratosis congenita ISO RGD:1348471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:25893599 12281924 PARN poly(A)-specific ribonuclease gene DOID:3770 pulmonary fibrosis ISO RGD:1348471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:16199547|PMID:25741868|PMID:25848748|PMID:26482878|PMID:26810774|PMID:28192371|PMID:28414520|PMID:28492532|PMID:28495692|PMID:30525901|PMID:9736620 12281924 PARN poly(A)-specific ribonuclease gene DOID:630 genetic disease ISO RGD:1348471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:30523342|PMID:31268371|PMID:9536098 12281924 PARN poly(A)-specific ribonuclease gene DOID:9002685 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 4 ISO RGD:1348471 D RGD:7240710 20180130 OMIM 12281924 PARN poly(A)-specific ribonuclease gene DOID:9002685 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 4 ISO RGD:1348471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 PMID:16281054|PMID:22834816|PMID:25741868|PMID:25848748|PMID:26482878|PMID:26810774|PMID:28192371|PMID:28414520|PMID:28492532|PMID:28495692|PMID:34298581|PMID:9736620 12281952 BPTF bromodomain PHD finger transcription factor gene DOID:1059 intellectual disability ISO RGD:1315998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28942966 12281952 BPTF bromodomain PHD finger transcription factor gene DOID:10652 Alzheimer's disease ISO RGD:1315998 D RGD:9068941 20200609 RGD protein:increased expression:microglia: PMID:9792236|REF_RGD_ID:9586059 12281952 BPTF bromodomain PHD finger transcription factor gene DOID:10907 microcephaly ISO RGD:1315998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12281952 BPTF bromodomain PHD finger transcription factor gene DOID:11054 urinary bladder cancer ISO RGD:1315998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121791 12281952 BPTF bromodomain PHD finger transcription factor gene DOID:12849 autistic disorder ISO RGD:1315998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 12281952 BPTF bromodomain PHD finger transcription factor gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1315998 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord: PMID:9225734|REF_RGD_ID:9586057 12281952 BPTF bromodomain PHD finger transcription factor gene DOID:630 genetic disease ISO RGD:1315998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25954003|PMID:27452334|PMID:27618451|PMID:28490743|PMID:28492532|PMID:28942966|PMID:33522091 12281952 BPTF bromodomain PHD finger transcription factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12281952 BPTF bromodomain PHD finger transcription factor gene DOID:9008086 Developmental Disabilities ISO RGD:1315998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28942966 12281952 BPTF bromodomain PHD finger transcription factor gene DOID:9009097 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies ISO RGD:1315998 D RGD:7240710 20190315 OMIM 12281952 BPTF bromodomain PHD finger transcription factor gene DOID:9009097 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies ISO RGD:1315998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532|PMID:28942966|PMID:33522091 12281987 TEX14 testis expressed 14, intercellular bridge forming factor gene DOID:0050777 Joubert syndrome ISO RGD:1313466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12281987 TEX14 testis expressed 14, intercellular bridge forming factor gene DOID:0070168 spermatogenic failure 3 ISO RGD:1313466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:28492532|PMID:31479588 12281987 TEX14 testis expressed 14, intercellular bridge forming factor gene DOID:0070181 spermatogenic failure 23 ISO RGD:1313466 D RGD:7240710 20190315 OMIM 12281987 TEX14 testis expressed 14, intercellular bridge forming factor gene DOID:0070181 spermatogenic failure 23 ISO RGD:1313466 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 23 PMID:25741868|PMID:28206990|PMID:28492532|PMID:29790874|PMID:31479588 12281987 TEX14 testis expressed 14, intercellular bridge forming factor gene DOID:0111096 Fanconi anemia complementation group O ISO RGD:1313466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group O PMID:28492532 12281987 TEX14 testis expressed 14, intercellular bridge forming factor gene DOID:10283 prostate cancer ISO RGD:1313466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12281987 TEX14 testis expressed 14, intercellular bridge forming factor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 12281987 TEX14 testis expressed 14, intercellular bridge forming factor gene DOID:630 genetic disease ISO RGD:1313466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282045 PITX1 paired like homeodomain 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733838 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12282045 PITX1 paired like homeodomain 1 gene DOID:0111390 mucopolysaccharidosis Ih ISO RGD:733838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hurler syndrome PMID:25741868 12282045 PITX1 paired like homeodomain 1 gene DOID:11836 clubfoot ISO RGD:733838 D RGD:7240710 20180130 OMIM 12282045 PITX1 paired like homeodomain 1 gene DOID:11836 clubfoot ISO RGD:733838 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY | ClinVar Annotator: match by term: Clubfoot PMID:18950742|PMID:22258522|PMID:25741868|PMID:28492532 12282045 PITX1 paired like homeodomain 1 gene DOID:12849 autistic disorder ISO RGD:733838 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18053270 12282045 PITX1 paired like homeodomain 1 gene DOID:630 genetic disease ISO RGD:733838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12282045 PITX1 paired like homeodomain 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733838 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12282045 PITX1 paired like homeodomain 1 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:733838 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23666240 12282045 PITX1 paired like homeodomain 1 gene DOID:9004044 Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly ISO RGD:733838 D RGD:7240710 20180130 OMIM 12282045 PITX1 paired like homeodomain 1 gene DOID:9004044 Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly ISO RGD:733838 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Liebenberg syndrome PMID:25741868|PMID:28492532 12282045 PITX1 paired like homeodomain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12282045 PITX1 paired like homeodomain 1 gene DOID:9005616 Micrognathism ISO RGD:733838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:25741868 12282045 PITX1 paired like homeodomain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733838 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12282052 EXOC6B exocyst complex component 6B gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1349809 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12282052 EXOC6B exocyst complex component 6B gene DOID:0112200 spondyloepimetaphyseal dysplasia with joint laxity type 3 ISO RGD:1349809 D RGD:7240710 20190515 OMIM 12282052 EXOC6B exocyst complex component 6B gene DOID:0112200 spondyloepimetaphyseal dysplasia with joint laxity type 3 ISO RGD:1349809 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 3 PMID:25741868|PMID:26669664|PMID:30284759 12282052 EXOC6B exocyst complex component 6B gene DOID:5419 schizophrenia ISO RGD:1349809 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12282052 EXOC6B exocyst complex component 6B gene DOID:543 dystonia ISO RGD:1349809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12282052 EXOC6B exocyst complex component 6B gene DOID:630 genetic disease ISO RGD:1349809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12282052 EXOC6B exocyst complex component 6B gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1349809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12282083 PIAS4 protein inhibitor of activated STAT 4 gene DOID:13938 amenorrhea ISO RGD:1318687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12282083 PIAS4 protein inhibitor of activated STAT 4 gene DOID:630 genetic disease ISO RGD:1318687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282103 B4GALT5 beta-1,4-galactosyltransferase 5 gene DOID:0080600 COVID-19 ISO RGD:1320747 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12282103 B4GALT5 beta-1,4-galactosyltransferase 5 gene DOID:2377 multiple sclerosis ISO RGD:1320747 D RGD:9068941 20200609 RGD mRNA:increased expression:white matter PMID:25216636|REF_RGD_ID:14390079 12282103 B4GALT5 beta-1,4-galactosyltransferase 5 gene DOID:630 genetic disease ISO RGD:1320747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282103 B4GALT5 beta-1,4-galactosyltransferase 5 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1320747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12282103 B4GALT5 beta-1,4-galactosyltransferase 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12282115 SOX18 SRY-box transcription factor 18 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1323321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12282115 SOX18 SRY-box transcription factor 18 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1323321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12282115 SOX18 SRY-box transcription factor 18 gene DOID:0111360 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome ISO RGD:1323321 D RGD:7240710 20180405 OMIM 12282115 SOX18 SRY-box transcription factor 18 gene DOID:0111360 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome ISO RGD:1323321 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome PMID:12740761|PMID:24697860|PMID:2484451|PMID:25741868|PMID:28492532|PMID:29307792 12282115 SOX18 SRY-box transcription factor 18 gene DOID:0111361 hypotrichosis-lymphedema-telangiectasia syndrome ISO RGD:1323321 D RGD:7240710 20180130 OMIM 12282115 SOX18 SRY-box transcription factor 18 gene DOID:0111361 hypotrichosis-lymphedema-telangiectasia syndrome ISO RGD:1323321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia syndrome PMID:11701398|PMID:12740761|PMID:24697860|PMID:26148450 12282115 SOX18 SRY-box transcription factor 18 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1323321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12282115 SOX18 SRY-box transcription factor 18 gene DOID:37 skin disease ISO RGD:1323321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12282115 SOX18 SRY-box transcription factor 18 gene DOID:630 genetic disease ISO RGD:1323321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12282115 SOX18 SRY-box transcription factor 18 gene DOID:9007964 Arsenic Poisoning ISO RGD:1323321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12282128 SCD5 stearoyl-CoA desaturase 5 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1349660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 12282128 SCD5 stearoyl-CoA desaturase 5 gene DOID:0112160 autosomal dominant nonsyndromic deafness 79 ISO RGD:1349660 D RGD:7240710 20201111 OMIM 12282128 SCD5 stearoyl-CoA desaturase 5 gene DOID:0112160 autosomal dominant nonsyndromic deafness 79 ISO RGD:1349660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 79 PMID:31972369 12282128 SCD5 stearoyl-CoA desaturase 5 gene DOID:10316 pneumoconiosis ISO RGD:1349660 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 12282128 SCD5 stearoyl-CoA desaturase 5 gene DOID:630 genetic disease ISO RGD:1349660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282128 SCD5 stearoyl-CoA desaturase 5 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1349660 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12282137 PLD1 phospholipase D1 gene DOID:0080633 developmental cardiac valvular defect ISO RGD:70829 D RGD:7240710 20200311 OMIM 12282137 PLD1 phospholipase D1 gene DOID:0080633 developmental cardiac valvular defect ISO RGD:70829 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiac valvular defect, developmental PMID:16199547|PMID:25741868|PMID:27799408|PMID:28492532|PMID:33645542 12282137 PLD1 phospholipase D1 gene DOID:1062 Fanconi syndrome ISO RGD:70829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 12282137 PLD1 phospholipase D1 gene DOID:11832 visual epilepsy ISO RGD:3349 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:15330336|REF_RGD_ID:2299910 12282137 PLD1 phospholipase D1 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:70829 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:27713167|REF_RGD_ID:14392801 12282137 PLD1 phospholipase D1 gene DOID:3525 middle cerebral artery infarction ISO RGD:70829 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 12282137 PLD1 phospholipase D1 gene DOID:630 genetic disease ISO RGD:70829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27513193|PMID:27799408|PMID:28492532|PMID:33645542 12282137 PLD1 phospholipase D1 gene DOID:9003936 Cardiomegaly ISO RGD:70829 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15988127 12282167 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:0080572 congenital disorder of glycosylation Iw ISO RGD:1342989 D RGD:7240710 20180130 OMIM 12282167 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:0080572 congenital disorder of glycosylation Iw ISO RGD:1342989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1w | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Iw, autosomal dominant PMID:23842455|PMID:25741868|PMID:28424003|PMID:28492532|PMID:34653363 12282167 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:0080600 COVID-19 ISO RGD:1342989 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12282167 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:0110877 holoprosencephaly 11 ISO RGD:1342989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12282167 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:0111723 Jacobsen Syndrome ISO RGD:1342989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12282167 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:10907 microcephaly ISO RGD:1342989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12282167 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:3652 Leigh disease ISO RGD:1342989 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868 12282167 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:5419 schizophrenia ISO RGD:1342989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12282167 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:630 genetic disease ISO RGD:1342989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12282167 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1342989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12282167 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:9007661 Dwarfism ISO RGD:1342989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12282195 ARHGEF15 Rho guanine nucleotide exchange factor 15 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:23647072|PMID:25741868|PMID:28492532|PMID:9536098 12282195 ARHGEF15 Rho guanine nucleotide exchange factor 15 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:23647072|PMID:25741868|PMID:28492532|PMID:9536098 12282195 ARHGEF15 Rho guanine nucleotide exchange factor 15 gene DOID:10283 prostate cancer ISO RGD:1315873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12282195 ARHGEF15 Rho guanine nucleotide exchange factor 15 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1315873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:28492532 12282195 ARHGEF15 Rho guanine nucleotide exchange factor 15 gene DOID:2729 dyskeratosis congenita ISO RGD:1315873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12282195 ARHGEF15 Rho guanine nucleotide exchange factor 15 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1315873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12282195 ARHGEF15 Rho guanine nucleotide exchange factor 15 gene DOID:630 genetic disease ISO RGD:1315873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12282219 CFAP119 cilia and flagella associated protein 119 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1603940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12282219 CFAP119 cilia and flagella associated protein 119 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1603940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 12282219 CFAP119 cilia and flagella associated protein 119 gene DOID:630 genetic disease ISO RGD:1603940 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282239 NAGK N-acetylglucosamine kinase gene DOID:543 dystonia ISO RGD:1312859 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12282239 NAGK N-acetylglucosamine kinase gene DOID:630 genetic disease ISO RGD:1312859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282239 NAGK N-acetylglucosamine kinase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1312859 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12282239 NAGK N-acetylglucosamine kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 12282239 NAGK N-acetylglucosamine kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12282239 NAGK N-acetylglucosamine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12282261 HDAC10 histone deacetylase 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1314168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12282261 HDAC10 histone deacetylase 10 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1314168 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12282261 HDAC10 histone deacetylase 10 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1314168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12282261 HDAC10 histone deacetylase 10 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1314168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12282261 HDAC10 histone deacetylase 10 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1314168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12282261 HDAC10 histone deacetylase 10 gene DOID:1059 intellectual disability ISO RGD:1314168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12282261 HDAC10 histone deacetylase 10 gene DOID:630 genetic disease ISO RGD:1314168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282299 WNT3 Wnt family member 3 gene DOID:0050746 mantle cell lymphoma ISO RGD:30308771 D RGD:9068941 20200625 CTD CTD Direct Evidence: marker/mechanism PMID:18787224 12282299 WNT3 Wnt family member 3 gene DOID:0060224 atrial fibrillation ISO RGD:30308771 D RGD:9068941 20200625 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12282299 WNT3 Wnt family member 3 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:30308771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex 12282299 WNT3 Wnt family member 3 gene DOID:0112192 tetraamelia syndrome 1 ISO RGD:30308771 D RGD:7240710 20200624 OMIM 12282299 WNT3 Wnt family member 3 gene DOID:0112192 tetraamelia syndrome 1 ISO RGD:30308771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetraamelia syndrome 1 PMID:14872406 12282299 WNT3 Wnt family member 3 gene DOID:1790 malignant mesothelioma ISO RGD:30308771 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12282299 WNT3 Wnt family member 3 gene DOID:630 genetic disease ISO RGD:30308771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12282299 WNT3 Wnt family member 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:30308771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:21549339|PMID:28492532 12282299 WNT3 Wnt family member 3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:11492 D RGD:9068941 20200609 RGD mRNA:increased expression:tumors:insertion of MMTV into Wnt3 gene increases expression and decreases latency of tumorigenesis in WAP-TGFalpha mice PMID:10918574|REF_RGD_ID:2298804 12282299 WNT3 Wnt family member 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:11492 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:9419423|REF_RGD_ID:2298848 12282311 MAP2K5 mitogen-activated protein kinase kinase 5 gene DOID:10283 prostate cancer ISO RGD:735708 D RGD:9068941 20200609 RGD protein:increased expression PMID:12618764|REF_RGD_ID:2298795 12282311 MAP2K5 mitogen-activated protein kinase kinase 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:62183 D RGD:9068941 20200609 RGD PMID:11387209|REF_RGD_ID:1580866 12282311 MAP2K5 mitogen-activated protein kinase kinase 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735708 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12282311 MAP2K5 mitogen-activated protein kinase kinase 5 gene DOID:2717 Bloom syndrome ISO RGD:735708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12282311 MAP2K5 mitogen-activated protein kinase kinase 5 gene DOID:630 genetic disease ISO RGD:735708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282311 MAP2K5 mitogen-activated protein kinase kinase 5 gene DOID:670 amphetamine abuse ISO RGD:735708 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12282311 MAP2K5 mitogen-activated protein kinase kinase 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735708 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32512071 12282311 MAP2K5 mitogen-activated protein kinase kinase 5 gene DOID:9003936 Cardiomegaly ISO RGD:62183 D RGD:9068941 20200609 RGD PMID:11387209|REF_RGD_ID:1580866 12282311 MAP2K5 mitogen-activated protein kinase kinase 5 gene DOID:9007633 Body Weight ISO RGD:735708 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219 12282311 MAP2K5 mitogen-activated protein kinase kinase 5 gene DOID:9007820 Sudden Death ISO RGD:62183 D RGD:9068941 20200609 RGD PMID:11387209|REF_RGD_ID:1580866 12282311 MAP2K5 mitogen-activated protein kinase kinase 5 gene DOID:9256 colorectal cancer ISO RGD:735708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12282345 C13H8orf33 chromosome 13 C8orf33 homolog gene DOID:630 genetic disease ISO RGD:1606509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282360 MSANTD1 Myb/SANT DNA binding domain containing 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1604952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12282360 MSANTD1 Myb/SANT DNA binding domain containing 1 gene DOID:1856 cherubism ISO RGD:1604952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12282360 MSANTD1 Myb/SANT DNA binding domain containing 1 gene DOID:630 genetic disease ISO RGD:1604952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282374 USP30 ubiquitin specific peptidase 30 gene DOID:630 genetic disease ISO RGD:1317441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282396 ACER1 alkaline ceramidase 1 gene DOID:630 genetic disease ISO RGD:1344470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282415 PIH1D1 PIH1 domain containing 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1605995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12282415 PIH1D1 PIH1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1605995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282438 SOBP sine oculis binding protein homolog gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1605982 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 12282438 SOBP sine oculis binding protein homolog gene DOID:630 genetic disease ISO RGD:1605982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282438 SOBP sine oculis binding protein homolog gene DOID:9004901 INTELLECTUAL DISABILITY, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS ISO RGD:1605982 D RGD:7240710 20180130 OMIM 12282438 SOBP sine oculis binding protein homolog gene DOID:9004901 INTELLECTUAL DISABILITY, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS ISO RGD:1605982 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, anterior maxillary protrusion, and strabismus PMID:17618476|PMID:18414213|PMID:21035105|PMID:25741868|PMID:28492532 12282449 C8H14orf180 chromosome 8 C14orf180 homolog gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1603812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12282449 C8H14orf180 chromosome 8 C14orf180 homolog gene DOID:630 genetic disease ISO RGD:1603812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282449 C8H14orf180 chromosome 8 C14orf180 homolog gene DOID:684 hepatocellular carcinoma ISO RGD:1603812 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12282489 PACC1 proton activated chloride channel 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12282489 PACC1 proton activated chloride channel 1 gene DOID:630 genetic disease ISO RGD:1602479 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282489 PACC1 proton activated chloride channel 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12282515 ATF5 activating transcription factor 5 gene DOID:12858 Huntington's disease ISO RGD:1350993 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:28861715 12282515 ATF5 activating transcription factor 5 gene DOID:3070 high grade glioma ISO RGD:1350993 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:28861715 12282515 ATF5 activating transcription factor 5 gene DOID:630 genetic disease ISO RGD:1350993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282587 PDC phosducin gene DOID:1540 parathyroid carcinoma ISO RGD:737392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12282587 PDC phosducin gene DOID:630 genetic disease ISO RGD:737392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282587 PDC phosducin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12282595 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B ISO RGD:732599 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome PMID:25741868|PMID:28492532 12282595 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0090022 split hand-foot malformation 5 ISO RGD:732599 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12282595 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0110662 congenital myasthenic syndrome 1B ISO RGD:732599 D RGD:7240710 20180214 OMIM 12282595 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0110662 congenital myasthenic syndrome 1B ISO RGD:732599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 1B, fast-channel PMID:10195214|PMID:12588888|PMID:15079006|PMID:18806275|PMID:25741868|PMID:28492532|PMID:7254233 12282595 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0110663 congenital myasthenic syndrome 1A ISO RGD:732599 D RGD:7240710 20180130 OMIM 12282595 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0110663 congenital myasthenic syndrome 1A ISO RGD:732599 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: CHRNA1-Related Congenital Myasthenic Syndrome | ClinVar Annotator: match by term: Congenital myasthenic syndrome 1A PMID:16685696|PMID:22406191|PMID:22678886|PMID:25741868|PMID:28492532|PMID:29054425|PMID:3651795|PMID:6287911|PMID:7619526|PMID:7863154|PMID:8872460|PMID:9158151|PMID:9221765 12282595 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:12849 autistic disorder ISO RGD:732599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism PMID:24121633|PMID:25741868|PMID:26467025|PMID:27748205|PMID:28492532 12282595 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:1826 epilepsy ISO RGD:732599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure 12282595 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:732599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital PMID:24033266|PMID:25450229|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33216040|PMID:9221765 12282595 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:732599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Juvenile myoclonic epilepsy PMID:25741868|PMID:28492532 12282595 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:630 genetic disease ISO RGD:732599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:9221765 12282595 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9000784 Fibrosis ISO RGD:732599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19690163 12282595 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9004016 Wiskott-Aldrich Syndrome 2 ISO RGD:732599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2 PMID:28492532 12282595 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9005883 Pleural Effusion ISO RGD:732599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleural effusion PMID:25741868|PMID:28492532|PMID:30177536|PMID:31680349 12282595 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:732599 D RGD:7240710 20180130 OMIM 12282595 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:732599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:10195214|PMID:14719537|PMID:15907919|PMID:16199547|PMID:17576681|PMID:18252226|PMID:18806275|PMID:22406191|PMID:22728938|PMID:23037934|PMID:24121633|PMID:25348405|PMID:25450229|PMID:25741868|PMID:25741885|PMID:26467025|PMID:27748205|PMID:28492532|PMID:29054425|PMID:29395675|PMID:30177536|PMID:31680349|PMID:33216040|PMID:6287911|PMID:7619526|PMID:7863154|PMID:8872460|PMID:9158151|PMID:9221765|PMID:9536098 12282595 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9006988 Congenital Myasthenic Syndrome, Fast-Channel ISO RGD:732599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12282595 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis treatment ISO RGD:732599 D RGD:9068941 20200609 RGD PMID:10606626|REF_RGD_ID:704386 12282595 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9008386 Hydrops Fetalis ISO RGD:732599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 12282607 RBM8A RNA binding motif protein 8A gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1320809 D RGD:7240710 20180130 OMIM 12282607 RBM8A RNA binding motif protein 8A gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1320809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:16501574|PMID:17236129|PMID:17576681|PMID:22366785|PMID:22581968|PMID:23754559|PMID:24033266|PMID:24053387|PMID:24220582|PMID:25741868|PMID:26136524|PMID:26233629|PMID:27320760|PMID:27846804|PMID:28129423|PMID:28492532|PMID:28857120|PMID:32227665|PMID:34355501|PMID:9536098 12282607 RBM8A RNA binding motif protein 8A gene DOID:1540 parathyroid carcinoma ISO RGD:1320809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12282607 RBM8A RNA binding motif protein 8A gene DOID:5419 schizophrenia ISO RGD:1320809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12282607 RBM8A RNA binding motif protein 8A gene DOID:630 genetic disease ISO RGD:1320809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282607 RBM8A RNA binding motif protein 8A gene DOID:9008086 Developmental Disabilities ISO RGD:1320809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22366785|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28857120 12282607 RBM8A RNA binding motif protein 8A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12282619 ACTG1 actin gamma 1 gene DOID:0050453 lissencephaly ISO RGD:1312061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:22366783|PMID:25741868|PMID:27240540|PMID:28492532|PMID:29671837 12282619 ACTG1 actin gamma 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:1312061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness PMID:13680526|PMID:19477959|PMID:30311386 12282619 ACTG1 actin gamma 1 gene DOID:0060229 Baraitser-Winter syndrome ISO RGD:1312061 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Baraitser-Winter syndrome PMID:31231230|PMID:32028042 12282619 ACTG1 actin gamma 1 gene DOID:0080205 CAKUT ISO RGD:1312061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:18414213|PMID:22366783|PMID:30143558|PMID:3351890 12282619 ACTG1 actin gamma 1 gene DOID:0081112 Baraitser-Winter syndrome 1 ISO RGD:1312061 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME PMID:31231230|PMID:32028042 12282619 ACTG1 actin gamma 1 gene DOID:0081113 Baraitser-Winter syndrome 2 ISO RGD:1312061 D RGD:7240710 20180130 OMIM 12282619 ACTG1 actin gamma 1 gene DOID:0081113 Baraitser-Winter syndrome 2 ISO RGD:1312061 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 PMID:14684684|PMID:17576681|PMID:18414213|PMID:19419963|PMID:19548389|PMID:22366783|PMID:24033266|PMID:25052316|PMID:25741868|PMID:26188271|PMID:26467025|PMID:27240540|PMID:28000701|PMID:28492532|PMID:29196752|PMID:29357087|PMID:29620237|PMID:29671837|PMID:29986705|PMID:30008475|PMID:30143558|PMID:30622556|PMID:3351890|PMID:33584783|PMID:33604570|PMID:9536098 12282619 ACTG1 actin gamma 1 gene DOID:0110550 autosomal dominant nonsyndromic deafness 20 ISO RGD:1312061 D RGD:7240710 20180130 OMIM 12282619 ACTG1 actin gamma 1 gene DOID:0110550 autosomal dominant nonsyndromic deafness 20 ISO RGD:1312061 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 20 PMID:12519370|PMID:13680526|PMID:14684684|PMID:16773128|PMID:17576681|PMID:18414213|PMID:19419963|PMID:19477959|PMID:19548389|PMID:20301607|PMID:22366783|PMID:23506231|PMID:24033266|PMID:25052316|PMID:25741868|PMID:25792668|PMID:26188271|PMID:26467025|PMID:27240540|PMID:28000701|PMID:28492532|PMID:29196752|PMID:29357087|PMID:29620237|PMID:29671837|PMID:29907799|PMID:29986705|PMID:30008475|PMID:30311386|PMID:30622556|PMID:31231230|PMID:32028042|PMID:33584783|PMID:35802133|PMID:36633841|PMID:5654493|PMID:9536098 12282619 ACTG1 actin gamma 1 gene DOID:1059 intellectual disability ISO RGD:1312061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12282619 ACTG1 actin gamma 1 gene DOID:10907 microcephaly ISO RGD:1312061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12282619 ACTG1 actin gamma 1 gene DOID:11476 osteoporosis ISO RGD:1312061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12282619 ACTG1 actin gamma 1 gene DOID:12270 coloboma ISO RGD:1312061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22366783 12282619 ACTG1 actin gamma 1 gene DOID:305 carcinoma ISO RGD:1312061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12282619 ACTG1 actin gamma 1 gene DOID:630 genetic disease ISO RGD:1312061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16773128|PMID:22366783|PMID:24033266|PMID:25741868|PMID:27240540|PMID:28492532 12282619 ACTG1 actin gamma 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1312061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12282619 ACTG1 actin gamma 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1312061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 12282619 ACTG1 actin gamma 1 gene DOID:9004538 Hearing Loss ISO RGD:1312061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:19477959|PMID:20301607|PMID:24033266|PMID:25741868|PMID:25792668|PMID:30311386 12282619 ACTG1 actin gamma 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1312061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12282619 ACTG1 actin gamma 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1312061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22366783 12282619 ACTG1 actin gamma 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1312061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 12282619 ACTG1 actin gamma 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1312061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22366783 12282627 OSTC oligosaccharyltransferase complex non-catalytic subunit gene DOID:0080600 COVID-19 ISO RGD:1607011 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12282627 OSTC oligosaccharyltransferase complex non-catalytic subunit gene DOID:630 genetic disease ISO RGD:1607011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282635 DDX47 DEAD-box helicase 47 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1321338 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12282635 DDX47 DEAD-box helicase 47 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1321338 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12282635 DDX47 DEAD-box helicase 47 gene DOID:1059 intellectual disability ISO RGD:1321338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12282635 DDX47 DEAD-box helicase 47 gene DOID:630 genetic disease ISO RGD:1321338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282651 HMGXB3 HMG-box containing 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:2302190 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12282651 HMGXB3 HMG-box containing 3 gene DOID:630 genetic disease ISO RGD:2302190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282651 HMGXB3 HMG-box containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2302190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12282651 HMGXB3 HMG-box containing 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2302190 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12282683 EGFLAM EGF like, fibronectin type III and laminin G domains gene DOID:630 genetic disease ISO RGD:1602070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282683 EGFLAM EGF like, fibronectin type III and laminin G domains gene DOID:9002189 High Myopia ISO RGD:1602070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12282683 EGFLAM EGF like, fibronectin type III and laminin G domains gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12282719 NUAK1 NUAK family kinase 1 gene DOID:0080600 COVID-19 ISO RGD:1605098 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12282719 NUAK1 NUAK family kinase 1 gene DOID:630 genetic disease ISO RGD:1605098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282719 NUAK1 NUAK family kinase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1605098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588|PMID:26873845 12282719 NUAK1 NUAK family kinase 1 gene DOID:9538 multiple myeloma ISO RGD:1605098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26873845 12282730 IBA57 iron-sulfur cluster assembly factor IBA57 gene DOID:0070330 multiple mitochondrial dysfunctions syndrome ISO RGD:1606941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12282730 IBA57 iron-sulfur cluster assembly factor IBA57 gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1606941 D RGD:7240710 20180130 OMIM 12282730 IBA57 iron-sulfur cluster assembly factor IBA57 gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1606941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:16199547|PMID:17576681|PMID:23462291|PMID:24033266|PMID:25741868|PMID:25971455|PMID:27785568|PMID:28492532|PMID:28671726|PMID:28803783|PMID:28913435|PMID:29353736|PMID:30258207|PMID:32180488|PMID:32348839|PMID:34906502|PMID:9536098 12282730 IBA57 iron-sulfur cluster assembly factor IBA57 gene DOID:0110819 hereditary spastic paraplegia 74 ISO RGD:1606941 D RGD:7240710 20180130 OMIM 12282730 IBA57 iron-sulfur cluster assembly factor IBA57 gene DOID:0110819 hereditary spastic paraplegia 74 ISO RGD:1606941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 74 | ClinVar Annotator: match by term: Spastic paraplegia 74, autosomal recessive PMID:17576681|PMID:23462291|PMID:25609768|PMID:25741868|PMID:25971455|PMID:27785568|PMID:28492532|PMID:28671726|PMID:30258207|PMID:34906502|PMID:9536098 12282730 IBA57 iron-sulfur cluster assembly factor IBA57 gene DOID:10907 microcephaly ISO RGD:1606941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12282730 IBA57 iron-sulfur cluster assembly factor IBA57 gene DOID:1540 parathyroid carcinoma ISO RGD:1606941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12282730 IBA57 iron-sulfur cluster assembly factor IBA57 gene DOID:607 paraplegia ISO RGD:1606941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12282730 IBA57 iron-sulfur cluster assembly factor IBA57 gene DOID:630 genetic disease ISO RGD:1606941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27785568|PMID:28492532|PMID:28671726 12282730 IBA57 iron-sulfur cluster assembly factor IBA57 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12282746 OR5B12 olfactory receptor family 5 subfamily B member 12 gene DOID:1059 intellectual disability ISO RGD:1354162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12282746 OR5B12 olfactory receptor family 5 subfamily B member 12 gene DOID:630 genetic disease ISO RGD:1354162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282749 SAC3D1 SAC3 domain containing 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1607039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12282749 SAC3D1 SAC3 domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1607039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12282749 SAC3D1 SAC3 domain containing 1 gene DOID:1909 melanoma ISO RGD:1607039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12282749 SAC3D1 SAC3 domain containing 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1607039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12282749 SAC3D1 SAC3 domain containing 1 gene DOID:2746 glycogen storage disease V ISO RGD:1607039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12282749 SAC3D1 SAC3 domain containing 1 gene DOID:3070 high grade glioma ISO RGD:1607039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12282749 SAC3D1 SAC3 domain containing 1 gene DOID:630 genetic disease ISO RGD:1607039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282759 SLC27A1 solute carrier family 27 member 1 gene DOID:10603 glucose intolerance ISO RGD:620927 D RGD:9068941 20200609 RGD protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle PMID:15281014|REF_RGD_ID:1642794 12282759 SLC27A1 solute carrier family 27 member 1 gene DOID:1168 familial hyperlipidemia ISO RGD:620927 D RGD:9068941 20200609 RGD protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle PMID:15281014|REF_RGD_ID:1642794 12282759 SLC27A1 solute carrier family 27 member 1 gene DOID:2018 hyperinsulinism ISO RGD:620927 D RGD:9068941 20200609 RGD protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle PMID:15281014|REF_RGD_ID:1642794 12282759 SLC27A1 solute carrier family 27 member 1 gene DOID:5844 myocardial infarction ISO RGD:620927 D RGD:9068941 20200609 RGD protein:decreased expression:infarcted heart PMID:17034771|REF_RGD_ID:1642800 12282759 SLC27A1 solute carrier family 27 member 1 gene DOID:630 genetic disease ISO RGD:1604940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282759 SLC27A1 solute carrier family 27 member 1 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:1553168 D RGD:9068941 20200609 RGD DNA:gene knockout::Slc27a1-/- mice resistant to diet-induced obesity and metabolic syndrome PMID:16611988|REF_RGD_ID:1642790 12282759 SLC27A1 solute carrier family 27 member 1 gene DOID:9007692 Insulin Resistance ISO RGD:620927 D RGD:9068941 20200609 RGD protein::heart:basal level increased but unresponsive to insulin on a high cholesterol, high fructose diet PMID:17400720|REF_RGD_ID:1642795 12282759 SLC27A1 solute carrier family 27 member 1 gene DOID:9970 obesity ISO RGD:620927 D RGD:9068941 20200609 RGD protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle PMID:15281014|REF_RGD_ID:1642794 12282759 SLC27A1 solute carrier family 27 member 1 gene DOID:9970 obesity susceptibility ISO RGD:1553168 D RGD:9068941 20200609 RGD DNA:gene knockout::Slc27a1-/- mice resistant to diet-induced obesity and metabolic syndrome PMID:16611988|REF_RGD_ID:1642790 12282788 LRRC32 leucine rich repeat containing 32 gene DOID:1059 intellectual disability ISO RGD:1319230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12282788 LRRC32 leucine rich repeat containing 32 gene DOID:630 genetic disease ISO RGD:1319230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282788 LRRC32 leucine rich repeat containing 32 gene DOID:9000539 Cleft Palate, Proliferative Retinopathy, and Developmental Delay ISO RGD:1319230 D RGD:7240710 20201111 OMIM 12282788 LRRC32 leucine rich repeat containing 32 gene DOID:9000539 Cleft Palate, Proliferative Retinopathy, and Developmental Delay ISO RGD:1319230 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cleft palate, proliferative retinopathy, and developmental delay PMID:25741868|PMID:30976112 12282788 LRRC32 leucine rich repeat containing 32 gene DOID:9008086 Developmental Disabilities ISO RGD:1319230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:30976112 12282795 GPBAR1 G protein-coupled bile acid receptor 1 gene DOID:0050770 polycystic liver disease ISO RGD:1331948 D RGD:9068941 20200609 RGD protein:increased expression: cholangiocyte PMID:28543567|REF_RGD_ID:14700993 12282795 GPBAR1 G protein-coupled bile acid receptor 1 gene DOID:0050770 polycystic liver disease treatment ISO RGD:1331948 D RGD:9068941 20200609 RGD PMID:28543567|REF_RGD_ID:14700993 12282795 GPBAR1 G protein-coupled bile acid receptor 1 gene DOID:0080322 polycystic kidney disease ISO RGD:631400 D RGD:9068941 20200609 RGD mRNA,protein:increased expression: cholangiocyte PMID:28543567|REF_RGD_ID:14700993 12282795 GPBAR1 G protein-coupled bile acid receptor 1 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:631400 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:liver (rat) treatment with INT-767 PMID:30038487|REF_RGD_ID:15092090 12282795 GPBAR1 G protein-coupled bile acid receptor 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:736919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12282795 GPBAR1 G protein-coupled bile acid receptor 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:736919 D RGD:9068941 20200609 RGD mRNA,protein:increased expression: cholangiocyte PMID:28543567|REF_RGD_ID:14700993 12282795 GPBAR1 G protein-coupled bile acid receptor 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:736919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12282795 GPBAR1 G protein-coupled bile acid receptor 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:736919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12282795 GPBAR1 G protein-coupled bile acid receptor 1 gene DOID:630 genetic disease ISO RGD:736919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282795 GPBAR1 G protein-coupled bile acid receptor 1 gene DOID:8778 Crohn's disease ISO RGD:736919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23566200 12282795 GPBAR1 G protein-coupled bile acid receptor 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736919 D RGD:9068941 20200609 RGD mRNA,protein:increased expression: cholangiocyte PMID:28543567|REF_RGD_ID:14700993 12282795 GPBAR1 G protein-coupled bile acid receptor 1 gene DOID:9001581 Constipation ISO RGD:736919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23041323 12282795 GPBAR1 G protein-coupled bile acid receptor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12282801 TBL3 transducin beta like 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1313000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 12282801 TBL3 transducin beta like 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1313000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12282801 TBL3 transducin beta like 3 gene DOID:1826 epilepsy ISO RGD:1313000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12282801 TBL3 transducin beta like 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1313000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12282801 TBL3 transducin beta like 3 gene DOID:630 genetic disease ISO RGD:1313000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282837 DEF6 DEF6 guanine nucleotide exchange factor gene DOID:0050553 JMP syndrome ISO RGD:1317434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12282837 DEF6 DEF6 guanine nucleotide exchange factor gene DOID:630 genetic disease ISO RGD:1317434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12282837 DEF6 DEF6 guanine nucleotide exchange factor gene DOID:9002508 Immunodeficiency 87 and Autoimmunity ISO RGD:1317434 D RGD:7240710 20211110 OMIM 12282837 DEF6 DEF6 guanine nucleotide exchange factor gene DOID:9002508 Immunodeficiency 87 and Autoimmunity ISO RGD:1317434 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 87 and autoimmunity PMID:25741868|PMID:28492532|PMID:31308374|PMID:32562707 12282837 DEF6 DEF6 guanine nucleotide exchange factor gene DOID:9074 systemic lupus erythematosus ISO RGD:1317434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 12282837 DEF6 DEF6 guanine nucleotide exchange factor gene DOID:9074 systemic lupus erythematosus ISO RGD:1317435 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12282853 CDKL4 cyclin dependent kinase like 4 gene DOID:1682 congenital heart disease ISO RGD:1603844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of 12282853 CDKL4 cyclin dependent kinase like 4 gene DOID:3883 Lynch syndrome ISO RGD:1603844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12282853 CDKL4 cyclin dependent kinase like 4 gene DOID:630 genetic disease ISO RGD:1603844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282853 CDKL4 cyclin dependent kinase like 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12282887 ABTB1 ankyrin repeat and BTB domain containing 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1349137 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12282887 ABTB1 ankyrin repeat and BTB domain containing 1 gene DOID:630 genetic disease ISO RGD:1349137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282887 ABTB1 ankyrin repeat and BTB domain containing 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1349137 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 12282887 ABTB1 ankyrin repeat and BTB domain containing 1 gene DOID:9270 alkaptonuria ISO RGD:1349137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12282912 TMEM74B transmembrane protein 74B gene DOID:630 genetic disease ISO RGD:1354046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282927 CREG2 cellular repressor of E1A stimulated genes 2 gene DOID:630 genetic disease ISO RGD:1350803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282966 C19H2orf76 chromosome 19 C2orf76 homolog gene DOID:630 genetic disease ISO RGD:1606162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12282981 ZNF407 zinc finger protein 407 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1344883 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12282981 ZNF407 zinc finger protein 407 gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:1344883 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:25741868 12282981 ZNF407 zinc finger protein 407 gene DOID:630 genetic disease ISO RGD:1344883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12282981 ZNF407 zinc finger protein 407 gene DOID:6420 pulmonary valve stenosis ISO RGD:1344883 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12282981 ZNF407 zinc finger protein 407 gene DOID:8445 intestinal volvulus ISO RGD:1344883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12282981 ZNF407 zinc finger protein 407 gene DOID:9000997 Tsukahara Syndrome ISO RGD:1344883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation PMID:25741868 12282981 ZNF407 zinc finger protein 407 gene DOID:9003499 SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES ISO RGD:1344883 D RGD:7240710 20211215 OMIM 12282981 ZNF407 zinc finger protein 407 gene DOID:9003499 SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES ISO RGD:1344883 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies PMID:24907849|PMID:32737394 12282981 ZNF407 zinc finger protein 407 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12282981 ZNF407 zinc finger protein 407 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1344883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12283008 RPL28 ribosomal protein L28 gene DOID:630 genetic disease ISO RGD:733961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283008 RPL28 ribosomal protein L28 gene DOID:9004657 Weight Gain ISO RGD:733961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12283017 CLIP1 CAP-Gly domain containing linker protein 1 gene DOID:1059 intellectual disability ISO RGD:69221 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: CLIP1-related intellectual disability 12283017 CLIP1 CAP-Gly domain containing linker protein 1 gene DOID:630 genetic disease ISO RGD:69221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12283017 CLIP1 CAP-Gly domain containing linker protein 1 gene DOID:9007661 Dwarfism ISO RGD:69221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12283017 CLIP1 CAP-Gly domain containing linker protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:69221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12283078 LYN LYN proto-oncogene, Src family tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:732668 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12283078 LYN LYN proto-oncogene, Src family tyrosine kinase gene DOID:0080855 Parkinsonism ISO RGD:621017 D RGD:9068941 20200609 RGD PMID:16529858|REF_RGD_ID:1581410 12283078 LYN LYN proto-oncogene, Src family tyrosine kinase gene DOID:289 endometriosis ISO RGD:621017 D RGD:9068941 20200609 RGD mRNA:increased expression:uterus PMID:17845203|REF_RGD_ID:2303708 12283078 LYN LYN proto-oncogene, Src family tyrosine kinase gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12283078 LYN LYN proto-oncogene, Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:732668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12283078 LYN LYN proto-oncogene, Src family tyrosine kinase gene DOID:9003936 Cardiomegaly ISO RGD:621017 D RGD:9068941 20200609 RGD PMID:17039281|REF_RGD_ID:2303711 12283078 LYN LYN proto-oncogene, Src family tyrosine kinase gene DOID:9074 systemic lupus erythematosus ISO RGD:732669 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12283099 USP8 ubiquitin specific peptidase 8 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1312730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12283099 USP8 ubiquitin specific peptidase 8 gene DOID:2717 Bloom syndrome ISO RGD:1312730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12283099 USP8 ubiquitin specific peptidase 8 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1312730 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35022897 12283099 USP8 ubiquitin specific peptidase 8 gene DOID:3946 pituitary-dependent Cushing's disease ISO RGD:1312730 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pituitary dependent hypercortisolism PMID:25675982|PMID:25741868|PMID:25942478|PMID:28492532 12283099 USP8 ubiquitin specific peptidase 8 gene DOID:7004 ACTH-secreting pituitary adenoma ISO RGD:1312730 D RGD:7240710 20190315 OMIM 12283099 USP8 ubiquitin specific peptidase 8 gene DOID:9256 colorectal cancer ISO RGD:1312730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12283124 CCDC141 coiled-coil domain containing 141 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1606113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 12283124 CCDC141 coiled-coil domain containing 141 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1606113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25741868|PMID:28492532 12283124 CCDC141 coiled-coil domain containing 141 gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1606113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532|PMID:30557390 12283124 CCDC141 coiled-coil domain containing 141 gene DOID:1921 Klinefelter syndrome ISO RGD:1606113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 12283124 CCDC141 coiled-coil domain containing 141 gene DOID:1923 disorder of sexual development ISO RGD:1606113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 12283124 CCDC141 coiled-coil domain containing 141 gene DOID:630 genetic disease ISO RGD:1606113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12283163 CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:731676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12283163 CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:0070040 autosomal dominant intellectual developmental disorder 10 ISO RGD:731676 D RGD:7240710 20180130 OMIM 12283163 CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:0070040 autosomal dominant intellectual developmental disorder 10 ISO RGD:731676 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 10 PMID:21376300|PMID:25741868 12283163 CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:1825 childhood absence epilepsy ISO RGD:71095 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:somatosensory cortex, primary motor cortex PMID:18556211|REF_RGD_ID:13524553 12283163 CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:1826 epilepsy ISO RGD:731676 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12283163 CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:3070 high grade glioma ISO RGD:731676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12283163 CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:630 genetic disease ISO RGD:731676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12283163 CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731676 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12283171 CDCA7L cell division cycle associated 7 like gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1602109 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 12283171 CDCA7L cell division cycle associated 7 like gene DOID:0110605 primary ciliary dyskinesia 7 ISO RGD:1602109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 7 PMID:18022865|PMID:22184204|PMID:24033266|PMID:24450482|PMID:25741868|PMID:28492532|PMID:29997923|PMID:32502479|PMID:32622824 12283171 CDCA7L cell division cycle associated 7 like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12283171 CDCA7L cell division cycle associated 7 like gene DOID:630 genetic disease ISO RGD:1602109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12283171 CDCA7L cell division cycle associated 7 like gene DOID:9562 primary ciliary dyskinesia ISO RGD:1602109 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:24033266|PMID:24450482|PMID:25741868|PMID:26139845|PMID:28492532|PMID:29997923|PMID:32502479|PMID:32622824 12283191 SYT1 synaptotagmin 1 gene DOID:0050888 syndromic intellectual disability ISO RGD:736944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:30107533 12283191 SYT1 synaptotagmin 1 gene DOID:11832 visual epilepsy ISO RGD:3803 D RGD:9068941 20200609 RGD PMID:8872307|REF_RGD_ID:730127 12283191 SYT1 synaptotagmin 1 gene DOID:630 genetic disease ISO RGD:736944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15456828|PMID:21338883|PMID:25705886|PMID:25741868|PMID:30107533|PMID:32362337|PMID:35101335 12283191 SYT1 synaptotagmin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: SYT1-associated neurodevelopmental disorder PMID:25705886|PMID:25712080|PMID:25741868|PMID:30107533|PMID:32362337|PMID:35101335 12283191 SYT1 synaptotagmin 1 gene DOID:9008596 Baker-Gordon Syndrome ISO RGD:736944 D RGD:7240710 20190315 OMIM 12283191 SYT1 synaptotagmin 1 gene DOID:9008596 Baker-Gordon Syndrome ISO RGD:736944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BAKER-GORDON SYNDROME | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENT AND ABNORMAL ELECTROENCEPHALOGRAM PMID:25705886|PMID:25712080|PMID:25741868|PMID:30107533|PMID:32362337|PMID:35101335 12283206 GAMT guanidinoacetate N-methyltransferase gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:732024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:11136556|PMID:11978605|PMID:12468279|PMID:12557293|PMID:15108290|PMID:15651030|PMID:16054853|PMID:16169544|PMID:16199547|PMID:16855203|PMID:17101918|PMID:17171576|PMID:17336114|PMID:17576681|PMID:19027335|PMID:19288536|PMID:19388150|PMID:19892372|PMID:20301745|PMID:21140503|PMID:22019491|PMID:23031365|PMID:23234264|PMID:23583224|PMID:23660394|PMID:24071436|PMID:24268530|PMID:24276113|PMID:24415674|PMID:24440240|PMID:2476685|PMID:25741868|PMID:26003046|PMID:26319512|PMID:26467025|PMID:27233226|PMID:27650626|PMID:27848944|PMID:28055022|PMID:28438604|PMID:28492532|PMID:28600779|PMID:29506905|PMID:29655203|PMID:31130284|PMID:31222513|PMID:32214227|PMID:34389248|PMID:8651275|PMID:9386672|PMID:9536098 12283206 GAMT guanidinoacetate N-methyltransferase gene DOID:0050799 guanidinoacetate methyltransferase deficiency ISO RGD:732024 D RGD:7240710 20180130 OMIM 12283206 GAMT guanidinoacetate N-methyltransferase gene DOID:0050799 guanidinoacetate methyltransferase deficiency ISO RGD:732024 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 PMID:11136556|PMID:11978605|PMID:12468279|PMID:12557293|PMID:15108290|PMID:15651030|PMID:16054853|PMID:16169544|PMID:16199547|PMID:16855203|PMID:17101918|PMID:17171576|PMID:17336114|PMID:17576681|PMID:19027335|PMID:19288536|PMID:19388150|PMID:19892372|PMID:20301745|PMID:21140503|PMID:22019491|PMID:23031365|PMID:23234264|PMID:23583224|PMID:23660394|PMID:23846910|PMID:24071436|PMID:24268530|PMID:24276113|PMID:24415674|PMID:24440240|PMID:2476685|PMID:25741868|PMID:26003046|PMID:26319512|PMID:26467025|PMID:27233226|PMID:27650626|PMID:28055022|PMID:28438604|PMID:28492532|PMID:29506905|PMID:29655203|PMID:31130284|PMID:32214227|PMID:33996490|PMID:34389248|PMID:8651275|PMID:9386672|PMID:9536098 12283206 GAMT guanidinoacetate N-methyltransferase gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:732024 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:11978605|PMID:12468279|PMID:20301745|PMID:25741868|PMID:28492532 12283206 GAMT guanidinoacetate N-methyltransferase gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:732024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 12283206 GAMT guanidinoacetate N-methyltransferase gene DOID:1059 intellectual disability ISO RGD:732024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:15108290|PMID:16199547|PMID:24415674|PMID:25741868|PMID:26467025|PMID:28492532 12283206 GAMT guanidinoacetate N-methyltransferase gene DOID:1826 epilepsy ISO RGD:732024 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12283206 GAMT guanidinoacetate N-methyltransferase gene DOID:3652 Leigh disease ISO RGD:732024 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:11978605|PMID:12468279|PMID:20301745|PMID:25741868|PMID:28492532 12283206 GAMT guanidinoacetate N-methyltransferase gene DOID:5339 cyclic hematopoiesis ISO RGD:732024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12283206 GAMT guanidinoacetate N-methyltransferase gene DOID:630 genetic disease ISO RGD:732024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11978605|PMID:12468279|PMID:15108290|PMID:15651030|PMID:16855203|PMID:17171576|PMID:17336114|PMID:17576681|PMID:19027335|PMID:20301745|PMID:21140503|PMID:22019491|PMID:23031365|PMID:23234264|PMID:23583224|PMID:23660394|PMID:24071436|PMID:24268530|PMID:24276113|PMID:24415674|PMID:24440240|PMID:2476685|PMID:25741868|PMID:26003046|PMID:26319512|PMID:26467025|PMID:27233226|PMID:28055022|PMID:28492532|PMID:29506905|PMID:8651275|PMID:9386672|PMID:9536098 12283206 GAMT guanidinoacetate N-methyltransferase gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:732024 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:11978605|PMID:12468279|PMID:20301745|PMID:25741868|PMID:28492532 12283206 GAMT guanidinoacetate N-methyltransferase gene DOID:9006534 Nervous System Malformations ISO RGD:732024 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:15108290|PMID:21140503|PMID:24415674|PMID:25741868|PMID:28492532|PMID:29506905 12283206 GAMT guanidinoacetate N-methyltransferase gene DOID:9252 amino acid metabolic disorder ISO RGD:732024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15651030 12283206 GAMT guanidinoacetate N-methyltransferase gene DOID:9252 amino acid metabolic disorder ISO RGD:732024 D RGD:9068941 20200609 RGD GAMT deficiency,OMIM:601240;DNA:point mutation, DNA:deletion PMID:8651275|REF_RGD_ID:1601275 12283215 MSL2 MSL complex subunit 2 gene DOID:12849 autistic disorder ISO RGD:1343514 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 12283215 MSL2 MSL complex subunit 2 gene DOID:630 genetic disease ISO RGD:1343514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283215 MSL2 MSL complex subunit 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1343514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12283221 NME9 NME/NM23 family member 9 gene DOID:630 genetic disease ISO RGD:1351445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283247 RNF185 ring finger protein 185 gene DOID:630 genetic disease ISO RGD:1602840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283260 TNIK TRAF2 and NCK interacting kinase gene DOID:0060071 pre-malignant neoplasm ISO RGD:1561817 D RGD:9068941 20220204 RGD mRNA:increased expression:colon (human) PMID:22242189|REF_RGD_ID:151347836 12283260 TNIK TRAF2 and NCK interacting kinase gene DOID:0080521 lung non-squamous non-small cell carcinoma ameliorates ISO RGD:1346178 D RGD:9068941 20220204 RGD mRNA,protein:increased expression:lung (human) PMID:25250715|REF_RGD_ID:151347838 12283260 TNIK TRAF2 and NCK interacting kinase gene DOID:0081216 autosomal recessive intellectual developmental disorder 54 ISO RGD:1346178 D RGD:7240710 20190315 OMIM 12283260 TNIK TRAF2 and NCK interacting kinase gene DOID:0081216 autosomal recessive intellectual developmental disorder 54 ISO RGD:1346178 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 54 PMID:25741868|PMID:27106596|PMID:28492532 12283260 TNIK TRAF2 and NCK interacting kinase gene DOID:1062 Fanconi syndrome ISO RGD:1346178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 12283260 TNIK TRAF2 and NCK interacting kinase gene DOID:37 skin disease ISO RGD:1346178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12283260 TNIK TRAF2 and NCK interacting kinase gene DOID:630 genetic disease ISO RGD:1346178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283260 TNIK TRAF2 and NCK interacting kinase gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1346178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12283260 TNIK TRAF2 and NCK interacting kinase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346178 D RGD:9068941 20220204 RGD protein:increased phosphorylation:liver, nucleus (human) PMID:25160513|REF_RGD_ID:151347837 12283260 TNIK TRAF2 and NCK interacting kinase gene DOID:9007964 Arsenic Poisoning ISO RGD:1346178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12283260 TNIK TRAF2 and NCK interacting kinase gene DOID:9256 colorectal cancer ameliorates ISO RGD:1558507 D RGD:9068941 20220204 RGD PMID:27562646|REF_RGD_ID:151347682 12283260 TNIK TRAF2 and NCK interacting kinase gene DOID:9256 colorectal cancer exacerbates ISO RGD:1346178 D RGD:9068941 20220204 RGD protein:increased expression:colorectum (human) PMID:26499327|REF_RGD_ID:11530847 12283301 MVD mevalonate diphosphate decarboxylase gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:736074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:23910690|PMID:28492532 12283301 MVD mevalonate diphosphate decarboxylase gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:736074 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12283301 MVD mevalonate diphosphate decarboxylase gene DOID:14780 KBG syndrome ISO RGD:736074 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 12283301 MVD mevalonate diphosphate decarboxylase gene DOID:3805 porokeratosis ISO RGD:736074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Linear porokeratosis PMID:30942823|PMID:33005717 12283301 MVD mevalonate diphosphate decarboxylase gene DOID:630 genetic disease ISO RGD:736074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283301 MVD mevalonate diphosphate decarboxylase gene DOID:9000411 Porokeratosis 7, Multiple Types ISO RGD:736074 D RGD:7240710 20180130 OMIM 12283301 MVD mevalonate diphosphate decarboxylase gene DOID:9000411 Porokeratosis 7, Multiple Types ISO RGD:736074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Porokeratosis 7, multiple types PMID:21161278|PMID:25741868|PMID:26202976 12283301 MVD mevalonate diphosphate decarboxylase gene DOID:9000808 Hypercholesterolemia ISO RGD:736075 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:25168180|REF_RGD_ID:13782271 12283301 MVD mevalonate diphosphate decarboxylase gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:736074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12283315 CACFD1 calcium channel flower domain containing 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1322993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12283315 CACFD1 calcium channel flower domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1322993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12283315 CACFD1 calcium channel flower domain containing 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1322993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12283315 CACFD1 calcium channel flower domain containing 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1322993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12283315 CACFD1 calcium channel flower domain containing 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1322993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12283315 CACFD1 calcium channel flower domain containing 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1322993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12283315 CACFD1 calcium channel flower domain containing 1 gene DOID:3652 Leigh disease ISO RGD:1322993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12283315 CACFD1 calcium channel flower domain containing 1 gene DOID:630 genetic disease ISO RGD:1322993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283322 BTK Bruton tyrosine kinase gene DOID:0040084 Streptococcus pneumonia ISO RGD:1551411 D RGD:9068941 20210326 RGD PMID:30873567|REF_RGD_ID:124715473 12283322 BTK Bruton tyrosine kinase gene DOID:0050746 mantle cell lymphoma treatment ISO RGD:1342660 D RGD:9068941 20200609 RGD PMID:23045577|REF_RGD_ID:11040699 12283322 BTK Bruton tyrosine kinase gene DOID:0050757 deafness-dystonia-optic neuronopathy syndrome ISO RGD:1342660 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Deafness dystonia syndrome 12283322 BTK Bruton tyrosine kinase gene DOID:0050866 oral squamous cell carcinoma treatment ISO RGD:1342660 D RGD:9068941 20220204 RGD mRNA:increased expression:oral epithelium (human) PMID:33640903|REF_RGD_ID:151347851 12283322 BTK Bruton tyrosine kinase gene DOID:0060180 colitis ameliorates ISO RGD:1551411 D RGD:9068941 20210326 RGD Associated with candidiasis PMID:25379804|REF_RGD_ID:124713568 12283322 BTK Bruton tyrosine kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12283322 BTK Bruton tyrosine kinase gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1342660 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 12283322 BTK Bruton tyrosine kinase gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1342660 D RGD:7240710 20180130 OMIM 12283322 BTK Bruton tyrosine kinase gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1342660 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:10092645|PMID:10373551|PMID:10612838|PMID:10737994|PMID:10754312|PMID:10844531|PMID:10859027|PMID:10887125|PMID:11027452|PMID:11206059|PMID:11410123|PMID:11438999|PMID:11445810|PMID:11472359|PMID:11527964|PMID:11555397|PMID:11668622|PMID:11742281|PMID:11809909|PMID:11892085|PMID:11956200|PMID:12204007|PMID:12217331|PMID:1240516|PMID:12405164|PMID:12655572|PMID:12768435|PMID:14974089|PMID:15024743|PMID:15112668|PMID:15358621|PMID:15661032|PMID:15821893|PMID:16159644|PMID:16199547|PMID:16712653|PMID:16729790|PMID:16862044|PMID:16943681|PMID:16951917|PMID:17045652|PMID:17327079|PMID:17576681|PMID:17765309|PMID:18241230|PMID:18518992|PMID:18677443|PMID:19039656|PMID:19419768|PMID:19763152|PMID:19904586|PMID:20307669|PMID:20529312|PMID:20721470|PMID:21039741|PMID:21520333|PMID:21984432|PMID:22406018|PMID:22736418|PMID:23335184|PMID:23424595|PMID:24001798|PMID:24033266|PMID:24307874|PMID:24383975|PMID:24477949|PMID:24586880|PMID:24658450|PMID:24869598|PMID:24885015|PMID:25082755|PMID:25189416|PMID:25270678|PMID:25640679|PMID:25741868|PMID:25777788|PMID:26915675|PMID:26931785|PMID:26960951|PMID:27199251|PMID:27512878|PMID:27535475|PMID:27577878|PMID:27593100|PMID:27980540|PMID:28049639|PMID:28212557|PMID:28236219|PMID:28359783|PMID:28418267|PMID:28492532|PMID:29424453|PMID:29496671|PMID:29503650|PMID:29709555|PMID:29875397|PMID:29921932|PMID:30018078|PMID:30072168|PMID:30240888|PMID:30290665|PMID:30311057|PMID:30564228|PMID:30697212|PMID:30882382|PMID:32067425|PMID:32441320|PMID:32499645|PMID:32552675|PMID:32581362|PMID:32888943|PMID:33224144|PMID:33377626|PMID:33815962|PMID:34029777|PMID:34182127|PMID:34262886|PMID:3486747|PMID:7627183|PMID:7633420|PMID:7633429|PMID:7678697|PMID:7711734|PMID:7809124|PMID:7849697|PMID:7849721|PMID:7880320|PMID:8013627|PMID:8090769|PMID:8162018|PMID:8162056|PMID:8332900|PMID:8332901|PMID:8380905|PMID:8594569|PMID:8695804|PMID:8723128|PMID:8834236|PMID:8938104|PMID:8939985|PMID:9106525|PMID:9143921|PMID:9188445|PMID:9192269|PMID:9260159|PMID:9445504|PMID:9524120|PMID:9536098|PMID:9545398|PMID:9880544 12283322 BTK Bruton tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:1342660 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:32503877 12283322 BTK Bruton tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:1342660 D RGD:9068941 20210326 RGD protein:increased phosphorylation:blood, monocyte (human) PMID:32503877|REF_RGD_ID:124713553 12283322 BTK Bruton tyrosine kinase gene DOID:0081136 agammaglobulinemia 1 ISO RGD:1342660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 PMID:10092645|PMID:11206059|PMID:11410123|PMID:11445810|PMID:11472359|PMID:11668622|PMID:11742281|PMID:12217331|PMID:14974089|PMID:15661032|PMID:16862044|PMID:16951917|PMID:17327079|PMID:17765309|PMID:18518992|PMID:19039656|PMID:19419768|PMID:19904586|PMID:20529312|PMID:23424595|PMID:25741868|PMID:27512878|PMID:27980540|PMID:28492532|PMID:29424453|PMID:29503650|PMID:30072168|PMID:30564228|PMID:7678697|PMID:7809124|PMID:7849697|PMID:7849721|PMID:7880320|PMID:8090769|PMID:8162056|PMID:8380905|PMID:8594569|PMID:8695804|PMID:8939985|PMID:9143921|PMID:9188445|PMID:9445504|PMID:9524120|PMID:9545398|PMID:9880544 12283322 BTK Bruton tyrosine kinase gene DOID:11573 listeriosis ameliorates ISO RGD:1551411 D RGD:9068941 20210326 RGD PMID:23544144|REF_RGD_ID:124713555 12283322 BTK Bruton tyrosine kinase gene DOID:12053 cryptococcosis exacerbates ISO RGD:1551411 D RGD:9068941 20210326 RGD PMID:23820392|REF_RGD_ID:124715476 12283322 BTK Bruton tyrosine kinase gene DOID:12849 autistic disorder ISO RGD:1342660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12283322 BTK Bruton tyrosine kinase gene DOID:14179 X-linked agammaglobulinemia ISO RGD:1342660 D RGD:7240710 20180130 OMIM 12283322 BTK Bruton tyrosine kinase gene DOID:14179 X-linked agammaglobulinemia ISO RGD:1342660 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia PMID:10092645|PMID:10678660|PMID:10737994|PMID:10844531|PMID:10859027|PMID:10887125|PMID:11102984|PMID:11206059|PMID:11410123|PMID:11445810|PMID:11472359|PMID:11527964|PMID:11555397|PMID:11564824|PMID:11586956|PMID:11668622|PMID:11742281|PMID:11809909|PMID:12204007|PMID:12217331|PMID:12405164|PMID:12655572|PMID:12768435|PMID:14974089|PMID:15112668|PMID:15661032|PMID:16053733|PMID:16160918|PMID:16199547|PMID:16712653|PMID:16751014|PMID:16862044|PMID:16951917|PMID:17045652|PMID:17164954|PMID:17327079|PMID:17576681|PMID:17765309|PMID:18241230|PMID:18518992|PMID:18677443|PMID:19039656|PMID:19419768|PMID:19904586|PMID:20529312|PMID:21397315|PMID:23424595|PMID:24001798|PMID:24033266|PMID:24383975|PMID:24820629|PMID:24885015|PMID:25142992|PMID:25525159|PMID:25741868|PMID:26915675|PMID:26981933|PMID:27512878|PMID:27577878|PMID:27980540|PMID:28492532|PMID:2896233|PMID:29424453|PMID:29503650|PMID:30072168|PMID:30240888|PMID:30564228|PMID:30627929|PMID:31803177|PMID:32499645|PMID:32581362|PMID:34029777|PMID:4697357|PMID:7554467|PMID:7627183|PMID:7633429|PMID:7678697|PMID:7711734|PMID:7809124|PMID:7849697|PMID:7849721|PMID:7880320|PMID:8090769|PMID:8162056|PMID:8164701|PMID:8164707|PMID:8380905|PMID:8594569|PMID:8644706|PMID:8695804|PMID:8938104|PMID:8939985|PMID:9106525|PMID:9143921|PMID:9188445|PMID:9260159|PMID:9445504|PMID:9524120|PMID:9536098|PMID:9545398|PMID:9880544 12283322 BTK Bruton tyrosine kinase gene DOID:14179 X-linked agammaglobulinemia ameliorates ISO RGD:1342660 D RGD:9068941 20210326 RGD Human gene in mouse model PMID:20574453|REF_RGD_ID:124715475 12283322 BTK Bruton tyrosine kinase gene DOID:14179 X-linked agammaglobulinemia ameliorates ISO RGD:1342660 D RGD:9068941 20210326 RGD human gene in a mouse model PMID:15142874|REF_RGD_ID:124713551 12283322 BTK Bruton tyrosine kinase gene DOID:14499 Fabry disease ISO RGD:1342660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:10666480|PMID:12175777|PMID:28492532 12283322 BTK Bruton tyrosine kinase gene DOID:1556 arthus reaction treatment ISO RGD:1359683 D RGD:9068941 20200609 RGD PMID:22228807|REF_RGD_ID:11040701 12283322 BTK Bruton tyrosine kinase gene DOID:234 colon adenocarcinoma ISO RGD:1342660 D RGD:9068941 20220204 RGD mRNA:decreased expression:colon (human) PMID:31402962|REF_RGD_ID:151347853 12283322 BTK Bruton tyrosine kinase gene DOID:2583 agammaglobulinemia ISO RGD:1342660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia PMID:10352268 12283322 BTK Bruton tyrosine kinase gene DOID:2583 agammaglobulinemia susceptibility ISO RGD:1342660 D RGD:9068941 20200609 RGD DNA:insertions, point mutations PMID:8162018|REF_RGD_ID:1600526 12283322 BTK Bruton tyrosine kinase gene DOID:288 endometriosis of uterus disease_progression ISO RGD:1551411 D RGD:9068941 20210326 RGD PMID:31247078|REF_RGD_ID:124715471 12283322 BTK Bruton tyrosine kinase gene DOID:3234 central nervous system lymphoma ameliorates ISO RGD:1342660 D RGD:9068941 20210326 RGD PMID:28552327|REF_RGD_ID:124715478 12283322 BTK Bruton tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1342660 D RGD:9068941 20220204 RGD mRNA:increased expression:lung (human) PMID:32623229|REF_RGD_ID:151347854 12283322 BTK Bruton tyrosine kinase gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1342660 D RGD:9068941 20220204 RGD mRNA:decreased expression:lung (human) PMID:32351880|REF_RGD_ID:151347848 12283322 BTK Bruton tyrosine kinase gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1342660 D RGD:9068941 20220204 RGD mRNA:decreased expression:lung (human) PMID:31803536|REF_RGD_ID:151347849 12283322 BTK Bruton tyrosine kinase gene DOID:612 primary immunodeficiency disease ISO RGD:1342660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:11809909|PMID:12405164|PMID:15661032|PMID:16862044|PMID:17576681|PMID:19419768|PMID:25741868|PMID:28492532|PMID:32499645|PMID:32581362|PMID:7627183|PMID:7849697|PMID:9536098|PMID:9545398 12283322 BTK Bruton tyrosine kinase gene DOID:630 genetic disease ISO RGD:1342660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283322 BTK Bruton tyrosine kinase gene DOID:707 B-cell lymphoma treatment ISO RGD:1342660 D RGD:9068941 20210326 RGD human cell in a mouse model PMID:28348046|REF_RGD_ID:124713554 12283322 BTK Bruton tyrosine kinase gene DOID:707 B-cell lymphoma treatment ISO RGD:1551411 D RGD:9068941 20200609 RGD PMID:25662332|REF_RGD_ID:11040764 12283322 BTK Bruton tyrosine kinase gene DOID:8584 Burkitt lymphoma ameliorates ISO RGD:1342660 D RGD:9068941 20210326 RGD Human cell line in a mouse model PMID:30546948|REF_RGD_ID:124715474 12283322 BTK Bruton tyrosine kinase gene DOID:8584 Burkitt lymphoma treatment ISO RGD:1342660 D RGD:9068941 20210326 RGD mRNA:increased expression:multiple (human) PMID:28474336|REF_RGD_ID:124713565 12283322 BTK Bruton tyrosine kinase gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1342660 D RGD:9068941 20220204 RGD associated with lung adenocarcinoma;protein:increased expression:lung (human) PMID:31200752|REF_RGD_ID:151347847 12283322 BTK Bruton tyrosine kinase gene DOID:9000371 influenza A ameliorates ISO RGD:1551411 D RGD:9068941 20210326 RGD Associated with Acute Lung Injury PMID:29516781|REF_RGD_ID:124713566 12283322 BTK Bruton tyrosine kinase gene DOID:9000873 Adenoviridae Infections susceptibility ISO RGD:1551411 D RGD:9068941 20210326 RGD PMID:15140955|REF_RGD_ID:124713567 12283322 BTK Bruton tyrosine kinase gene DOID:9002106 Pneumococcal Pneumonia ameliorates ISO RGD:1551411 D RGD:9068941 20210326 RGD PMID:30646846|REF_RGD_ID:124715470 12283322 BTK Bruton tyrosine kinase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1342660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia PMID:24869598|PMID:25741868|PMID:28492532 12283322 BTK Bruton tyrosine kinase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia treatment ISO RGD:1342660 D RGD:9068941 20200609 RGD PMID:23045577|REF_RGD_ID:11040699 12283322 BTK Bruton tyrosine kinase gene DOID:9002395 Hypothermia exacerbates ISO RGD:1323170 D RGD:9068941 20210326 RGD Associated with Endotoxemia; with Itk knockout PMID:26581914|REF_RGD_ID:11533169 12283322 BTK Bruton tyrosine kinase gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1359683 D RGD:9068941 20220311 RGD PMID:22228807|PMID:32083858|REF_RGD_ID:11040701|REF_RGD_ID:151665122 12283322 BTK Bruton tyrosine kinase gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1551411 D RGD:9068941 20200609 RGD PMID:22228807|REF_RGD_ID:11040701 12283322 BTK Bruton tyrosine kinase gene DOID:9004143 X-Linked Hypogammaglobulinemia ISO RGD:1342660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogammaglobulinemia, X-linked PMID:8758136 12283322 BTK Bruton tyrosine kinase gene DOID:9006549 Enterovirus Infections treatment ISO RGD:1551411 D RGD:9068941 20210326 RGD Associated with X-linked agammaglobulinemia PMID:10508272|REF_RGD_ID:124715472 12283322 BTK Bruton tyrosine kinase gene DOID:9007278 Anaphylaxis treatment ISO RGD:1359683 D RGD:9068941 20200609 RGD PMID:22228807|REF_RGD_ID:11040701 12283322 BTK Bruton tyrosine kinase gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1342660 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 12283322 BTK Bruton tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:1342660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:24869598|PMID:25082755|PMID:25189416|PMID:25741868|PMID:27199251|PMID:28049639|PMID:28212557|PMID:28418267|PMID:28492532|PMID:29496671|PMID:29875397|PMID:30018078 12283322 BTK Bruton tyrosine kinase gene DOID:9065 leishmaniasis susceptibility ISO RGD:1551411 D RGD:9068941 20210326 RGD PMID:28783468|REF_RGD_ID:124715477 12283322 BTK Bruton tyrosine kinase gene DOID:9256 colorectal cancer disease_progression ISO RGD:1342660 D RGD:9068941 20220204 RGD protein:increased expression:colorectum (human) PMID:31518438|REF_RGD_ID:151347850 12283322 BTK Bruton tyrosine kinase gene DOID:9256 colorectal cancer exacerbates ISO RGD:1342660 D RGD:9068941 20220204 RGD protein:increased expression:colorectum (human) PMID:31238520|REF_RGD_ID:151347852 12283322 BTK Bruton tyrosine kinase gene DOID:9261 nasopharynx carcinoma ISO RGD:1342660 D RGD:9068941 20220204 RGD mRNA:decreased expression:nasopharynx (human) PMID:33096113|REF_RGD_ID:151347855 12283348 DUSP9 dual specificity phosphatase 9 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1345424 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12283348 DUSP9 dual specificity phosphatase 9 gene DOID:0050476 Barth syndrome ISO RGD:1345424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12283348 DUSP9 dual specificity phosphatase 9 gene DOID:0050800 creatine transporter deficiency ISO RGD:1345424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12283348 DUSP9 dual specificity phosphatase 9 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12283348 DUSP9 dual specificity phosphatase 9 gene DOID:0112003 immunodeficiency 33 ISO RGD:1345424 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12283348 DUSP9 dual specificity phosphatase 9 gene DOID:10588 adrenoleukodystrophy ISO RGD:1345424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12283348 DUSP9 dual specificity phosphatase 9 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1345424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12283348 DUSP9 dual specificity phosphatase 9 gene DOID:12849 autistic disorder ISO RGD:1345424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12283348 DUSP9 dual specificity phosphatase 9 gene DOID:13628 favism ISO RGD:1345424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12283348 DUSP9 dual specificity phosphatase 9 gene DOID:2729 dyskeratosis congenita ISO RGD:1345424 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12283348 DUSP9 dual specificity phosphatase 9 gene DOID:607 paraplegia ISO RGD:1345424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12283348 DUSP9 dual specificity phosphatase 9 gene DOID:630 genetic disease ISO RGD:1345424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283348 DUSP9 dual specificity phosphatase 9 gene DOID:9002720 Splenomegaly ISO RGD:1345424 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12283369 RFXAP regulatory factor X associated protein gene DOID:5812 MHC class II deficiency ISO RGD:1348538 D RGD:7240710 20180207 OMIM 12283369 RFXAP regulatory factor X associated protein gene DOID:5812 MHC class II deficiency ISO RGD:1348538 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bare Lymphocyte Syndrome, Type II, Complementation Group D | ClinVar Annotator: match by term: MHC class II deficiency PMID:12498778|PMID:17576681|PMID:20197681|PMID:22390233|PMID:25741868|PMID:28492532|PMID:31589614|PMID:650344|PMID:7021490|PMID:9118943|PMID:9287230|PMID:9536098 12283369 RFXAP regulatory factor X associated protein gene DOID:630 genetic disease ISO RGD:1348538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12283377 IL27 interleukin 27 gene DOID:0060496 respiratory allergy ISO RGD:1615620 D RGD:9068941 20200609 RGD PMID:20817868|REF_RGD_ID:4145651 12283377 IL27 interleukin 27 gene DOID:10303 sialadenitis exacerbates ISO RGD:1615620 D RGD:9068941 20210423 RGD mRNA:increased expression:saliva-secreting gland (mouse) PMID:32307922|REF_RGD_ID:126790516 12283377 IL27 interleukin 27 gene DOID:106 pleural tuberculosis ISO RGD:1343577 D RGD:9068941 20210430 RGD associated with Pleural Effusion;protein:increased expression:pleural fluid (human) PMID:23962500|PMID:25753767|PMID:28844060|REF_RGD_ID:126790505|REF_RGD_ID:126790517|REF_RGD_ID:126790523 12283377 IL27 interleukin 27 gene DOID:106 pleural tuberculosis exacerbates ISO RGD:1343577 D RGD:9068941 20210430 RGD protein:increased expression:alveolar system (human) PMID:31819557|REF_RGD_ID:126790549 12283377 IL27 interleukin 27 gene DOID:10887 lepromatous leprosy ameliorates ISO RGD:1343577 D RGD:9068941 20210430 RGD mRNA:decreased expression:skin of body (human) PMID:26030183|REF_RGD_ID:126790539 12283377 IL27 interleukin 27 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:1343577 D RGD:9068941 20210430 RGD mRNA,protein:decreased expression:peripheral blood mononuclear cell, blood serum (human)" PMID:33280050|REF_RGD_ID:126790550 12283377 IL27 interleukin 27 gene DOID:1123 spondyloarthropathy ISO RGD:11440 D RGD:9068941 20200609 RGD PMID:29494633|REF_RGD_ID:14995936 12283377 IL27 interleukin 27 gene DOID:12365 malaria ISO RGD:1615620 D RGD:9068941 20210423 RGD PMID:24522137|REF_RGD_ID:126790512 12283377 IL27 interleukin 27 gene DOID:12365 malaria ameliorates ISO RGD:1615620 D RGD:9068941 20210430 RGD PMID:26968425|REF_RGD_ID:11530371 12283377 IL27 interleukin 27 gene DOID:1273 respiratory syncytial virus infectious disease ameliorates ISO RGD:1615620 D RGD:9068941 20210430 RGD PMID:22301139|REF_RGD_ID:126790525 12283377 IL27 interleukin 27 gene DOID:14115 toxic shock syndrome ISO RGD:1615620 D RGD:9068941 20210430 RGD protein, mRNA:increased expression:blood serum, spleen (mouse) PMID:20435892|REF_RGD_ID:126790535 12283377 IL27 interleukin 27 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1343577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 12283377 IL27 interleukin 27 gene DOID:1724 duodenal ulcer ISO RGD:1343577 D RGD:9068941 20210430 RGD associated with Helicobacter Infections;protein:increased expression:blood serum (human) PMID:31702083|REF_RGD_ID:126790551 12283377 IL27 interleukin 27 gene DOID:1936 atherosclerosis ameliorates ISO RGD:1615620 D RGD:9068941 20210423 RGD PMID:23729211|REF_RGD_ID:39456136 12283377 IL27 interleukin 27 gene DOID:2043 hepatitis B ISO RGD:1343577 D RGD:9068941 20210423 RGD mRNA:increased expression:blood plasma (human) PMID:26925776|REF_RGD_ID:126790497 12283377 IL27 interleukin 27 gene DOID:2043 hepatitis B ISO RGD:1343577 D RGD:9068941 20210430 RGD protein:increased expression:blood serum (human) PMID:22766719|REF_RGD_ID:126790543 12283377 IL27 interleukin 27 gene DOID:2043 hepatitis B exacerbates ISO RGD:1343577 D RGD:9068941 20210423 RGD protein:increased expression:blood serum (human) PMID:19081304|REF_RGD_ID:39128258 12283377 IL27 interleukin 27 gene DOID:2841 asthma ISO RGD:1343577 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:20817868|REF_RGD_ID:4145651 12283377 IL27 interleukin 27 gene DOID:2841 asthma ISO RGD:1615620 D RGD:9068941 20200609 RGD PMID:17878337|PMID:19542437|REF_RGD_ID:5128479|REF_RGD_ID:5128491 12283377 IL27 interleukin 27 gene DOID:2841 asthma susceptibility ISO RGD:1343577 D RGD:9068941 20200609 RGD DNA:SNP: :g.-964A>G (human) PMID:17318299|REF_RGD_ID:5128485 12283377 IL27 interleukin 27 gene DOID:2841 asthma treatment ISO RGD:1615620 D RGD:9068941 20210423 RGD PMID:26595888|REF_RGD_ID:11076728 12283377 IL27 interleukin 27 gene DOID:2957 pulmonary tuberculosis ISO RGD:1343577 D RGD:9068941 20210430 RGD DNA:SNPs:promoter,exons:-964A>G, 2905T>G, 4730T>C (rs153109, rs17855750, rs181206) (human) PMID:30948177|REF_RGD_ID:39456132 12283377 IL27 interleukin 27 gene DOID:2957 pulmonary tuberculosis exacerbates ISO RGD:1343577 D RGD:9068941 20210423 RGD DNA:SNPs:promoter, exon:-964A>G, 2905T>G (human) PMID:31949807|REF_RGD_ID:126790508 12283377 IL27 interleukin 27 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1343577 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-964A>G, 2905T>G (human) PMID:18554158|REF_RGD_ID:5128484 12283377 IL27 interleukin 27 gene DOID:321 tropical spastic paraparesis ISO RGD:1343577 D RGD:9068941 20210430 RGD associated with HTLV-I Infections;mRNA:decreased expression:blood (human) PMID:24041428|REF_RGD_ID:126790519 12283377 IL27 interleukin 27 gene DOID:3944 Arenaviridae infectious disease ISO RGD:1615620 D RGD:9068941 20210430 RGD mRNA, protein:increased expression:spleen (mouse) PMID:29593047|REF_RGD_ID:126790521 12283377 IL27 interleukin 27 gene DOID:399 tuberculosis ISO RGD:1343577 D RGD:9068941 20210423 RGD associated with Pleural Effusion;protein:increased expression:pleural effusion (human) PMID:25511588|REF_RGD_ID:126790514 12283377 IL27 interleukin 27 gene DOID:399 tuberculosis exacerbates ISO RGD:1343577 D RGD:9068941 20210430 RGD mRNA:increased expression:blood (human) PMID:26282876|REF_RGD_ID:11086047 12283377 IL27 interleukin 27 gene DOID:418 systemic scleroderma ISO RGD:1343577 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20705635|REF_RGD_ID:5128477 12283377 IL27 interleukin 27 gene DOID:5082 liver cirrhosis ISO RGD:1343577 D RGD:9068941 20210423 RGD associated with hepatitis B;protein:increased expression:blood serum (human) PMID:22230324|REF_RGD_ID:126790507 12283377 IL27 interleukin 27 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1343577 D RGD:9068941 20210430 RGD associated with hepatitis C;protein:increased expression:blood plasma (human) PMID:24816922|REF_RGD_ID:126790553 12283377 IL27 interleukin 27 gene DOID:526 human immunodeficiency virus infectious disease ameliorates ISO RGD:1343577 D RGD:9068941 20210430 RGD protein:increased expression:blood plasma (human) PMID:28338007|REF_RGD_ID:126790518 12283377 IL27 interleukin 27 gene DOID:5419 schizophrenia ISO RGD:1343577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12283377 IL27 interleukin 27 gene DOID:552 pneumonia ISO RGD:1615620 D RGD:9068941 20200609 RGD PMID:19124731|REF_RGD_ID:5128483 12283377 IL27 interleukin 27 gene DOID:630 genetic disease ISO RGD:1343577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283377 IL27 interleukin 27 gene DOID:750 peptic ulcer disease ISO RGD:1343577 D RGD:9068941 20210423 RGD associated with Helicobacter infections;protein:increased expression:blood serum (human) PMID:21791025|REF_RGD_ID:126790506 12283377 IL27 interleukin 27 gene DOID:8515 Cor pulmonale disease_progression ISO RGD:1343577 D RGD:9068941 20210423 RGD associated with hand, foot and mouth disease;protein:altered expression:blood��serum (human) PMID:27403033|REF_RGD_ID:126790503 12283377 IL27 interleukin 27 gene DOID:8568 infectious mononucleosis ISO RGD:1343577 D RGD:9068941 20210430 RGD protein:increased expression:blood serum (human) PMID:33571934|REF_RGD_ID:126790542 12283377 IL27 interleukin 27 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1343577 D RGD:9068941 20210430 RGD associated with hepatitis B;protein:increased expression:blood serum (human) PMID:23890319|PMID:31198792|REF_RGD_ID:126790526|REF_RGD_ID:126790529 12283377 IL27 interleukin 27 gene DOID:9000371 influenza A ISO RGD:1343577 D RGD:9068941 20210423 RGD protein:increased expression:blood serum (human) PMID:22343630|REF_RGD_ID:126790513 12283377 IL27 interleukin 27 gene DOID:9000469 Viral Myocarditis ameliorates ISO RGD:1615620 D RGD:9068941 20210430 RGD PMID:26578236|REF_RGD_ID:126790546 12283377 IL27 interleukin 27 gene DOID:9000989 Pneumococcal Infections ISO RGD:1615620 D RGD:9068941 20210430 RGD associated with influenza A;protein:increased expression:lung (mouse) PMID:24408967|REF_RGD_ID:11556418 12283377 IL27 interleukin 27 gene DOID:9001934 Neonatal Sepsis ISO RGD:1343577 D RGD:9068941 20210507 RGD protien:increased expression:blood serum (human) PMID:22766719|REF_RGD_ID:126790543 12283377 IL27 interleukin 27 gene DOID:9001934 Neonatal Sepsis ISO RGD:1615620 D RGD:9068941 20210430 RGD protein:increased expression:blood serum (mouse) PMID:31818960|REF_RGD_ID:126790524 12283377 IL27 interleukin 27 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343577 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21801027|PMID:24028178 12283377 IL27 interleukin 27 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1615620 D RGD:9068941 20210430 RGD protein:decreased expression:blood serum (mouse) PMID:33403844|REF_RGD_ID:126790527 12283377 IL27 interleukin 27 gene DOID:9004017 Chronic Hepatitis C ameliorates ISO RGD:1343577 D RGD:9068941 20210430 RGD DNA:SNP:promoter:-964A>G (rs153109) (human) PMID:27221901|REF_RGD_ID:126790538 12283377 IL27 interleukin 27 gene DOID:9004484 Sepsis ISO RGD:1343577 D RGD:9068941 20210430 RGD mRNA:increased expression:blood, leukocyte (human) PMID:18227999|REF_RGD_ID:126790544 12283377 IL27 interleukin 27 gene DOID:9004484 Sepsis ISO RGD:1615620 D RGD:9068941 20210430 RGD associated with Herpesviridae Infections;protein:increased expression:blood serum, spleen (mouse) PMID:20493722|REF_RGD_ID:126790537 12283377 IL27 interleukin 27 gene DOID:9004484 Sepsis disease_progression ISO RGD:1343577 D RGD:9068941 20210423 RGD DNA:SNP:promoter:-964A>G (rs153109) (human) PMID:30268141|REF_RGD_ID:126790509 12283377 IL27 interleukin 27 gene DOID:9004484 Sepsis exacerbates ISO RGD:1343577 D RGD:9068941 20210423 RGD protein:increased expression:blood (human) PMID:22965735|REF_RGD_ID:126790502 12283377 IL27 interleukin 27 gene DOID:9004484 Sepsis severity ISO RGD:1615620 D RGD:9068941 20210430 RGD PMID:26767500|REF_RGD_ID:126790536 12283377 IL27 interleukin 27 gene DOID:9004945 Ocular Toxoplasmosis disease_progression ISO RGD:1615620 D RGD:9068941 20210423 RGD mRNA:increased expression:eye, cervical lymph node (mouse) PMID:29779048|REF_RGD_ID:126790500 12283377 IL27 interleukin 27 gene DOID:9005036 Bacteremia ISO RGD:1343577 D RGD:9068941 20210423 RGD protein:increased expression:blood serum (human) PMID:26514771|REF_RGD_ID:126790515 12283377 IL27 interleukin 27 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:1615620 D RGD:9068941 20210423 RGD protein:increased expression:spleen, saliva-secreting gland (mouse) PMID:27926930|REF_RGD_ID:126790498 12283377 IL27 interleukin 27 gene DOID:9006732 Clostridium Infections ISO RGD:1343577 D RGD:9068941 20210423 RGD associated with diarrhea;protein:increased expression:blood��serum, feces (human) PMID:29140433|REF_RGD_ID:126790495 12283377 IL27 interleukin 27 gene DOID:9007367 Septic Peritonitis exacerbates ISO RGD:1615620 D RGD:9068941 20210423 RGD PMID:16880260|REF_RGD_ID:126790504 12283377 IL27 interleukin 27 gene DOID:9007417 Pseudomonas Infections ameliorates ISO RGD:1615620 D RGD:9068941 20210430 RGD associated with Sepsis PMID:25074706|REF_RGD_ID:126790541 12283377 IL27 interleukin 27 gene DOID:9065 leishmaniasis exacerbates ISO RGD:1615620 D RGD:9068941 20210430 RGD PMID:25466588|REF_RGD_ID:126790552 12283377 IL27 interleukin 27 gene DOID:9146 visceral leishmaniasis ISO RGD:1615620 D RGD:9068941 20210430 RGD mRNA, protein:increased expression:spleen, liver (mouse) PMID:27245409|REF_RGD_ID:126790520 12283377 IL27 interleukin 27 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1343577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430480 12283377 IL27 interleukin 27 gene DOID:9965 toxoplasmosis ISO RGD:1615620 D RGD:9068941 20210430 RGD PMID:22981537|REF_RGD_ID:126790522 12283377 IL27 interleukin 27 gene DOID:9965 toxoplasmosis susceptibility ISO RGD:1615620 D RGD:9068941 20210423 RGD PMID:31548322|REF_RGD_ID:126790501 12283390 ZNF286A zinc finger protein 286A gene DOID:630 genetic disease ISO RGD:1350825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283414 COLEC10 collectin subfamily member 10 gene DOID:0060577 3MC syndrome 3 ISO RGD:1316172 D RGD:7240710 20190315 OMIM 12283414 COLEC10 collectin subfamily member 10 gene DOID:0060577 3MC syndrome 3 ISO RGD:1316172 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: 3MC syndrome 3 PMID:25741868|PMID:28301481 12283414 COLEC10 collectin subfamily member 10 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1316172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12283414 COLEC10 collectin subfamily member 10 gene DOID:206 hereditary multiple exostoses ISO RGD:1316172 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 12283414 COLEC10 collectin subfamily member 10 gene DOID:630 genetic disease ISO RGD:1316172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283414 COLEC10 collectin subfamily member 10 gene DOID:684 hepatocellular carcinoma ISO RGD:1316172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12283414 COLEC10 collectin subfamily member 10 gene DOID:9005421 Paget Disease of Bone 5, Juvenile-Onset ISO RGD:1316172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease PMID:106682|PMID:12124406 12283427 SPATA9 spermatogenesis associated 9 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1317981 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12283427 SPATA9 spermatogenesis associated 9 gene DOID:630 genetic disease ISO RGD:1317981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283427 SPATA9 spermatogenesis associated 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12283427 SPATA9 spermatogenesis associated 9 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317981 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12283449 DHRSX dehydrogenase/reductase X-linked gene DOID:12849 autistic disorder ISO RGD:1344855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12283459 AKR1A1 aldo-keto reductase family 1 member A1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:68486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12283459 AKR1A1 aldo-keto reductase family 1 member A1 gene DOID:0060041 autism spectrum disorder ISO RGD:68486 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12283459 AKR1A1 aldo-keto reductase family 1 member A1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:68486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12283459 AKR1A1 aldo-keto reductase family 1 member A1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:68486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12283459 AKR1A1 aldo-keto reductase family 1 member A1 gene DOID:1612 breast cancer ISO RGD:68486 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:25526449|REF_RGD_ID:27226689 12283459 AKR1A1 aldo-keto reductase family 1 member A1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:68486 D RGD:9068941 20200609 RGD PMID:30727821|REF_RGD_ID:27226687 12283459 AKR1A1 aldo-keto reductase family 1 member A1 gene DOID:630 genetic disease ISO RGD:68486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283459 AKR1A1 aldo-keto reductase family 1 member A1 gene DOID:684 hepatocellular carcinoma ISO RGD:68486 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32805337 12283459 AKR1A1 aldo-keto reductase family 1 member A1 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:68486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 12283459 AKR1A1 aldo-keto reductase family 1 member A1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1331936 D RGD:9068941 20200609 RGD PMID:31089212|REF_RGD_ID:27226686 12283459 AKR1A1 aldo-keto reductase family 1 member A1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1331936 D RGD:9068941 20200609 RGD PMID:29763686|REF_RGD_ID:27226688 12283459 AKR1A1 aldo-keto reductase family 1 member A1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68486 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32805337 12283459 AKR1A1 aldo-keto reductase family 1 member A1 gene DOID:9007702 Carcinogenesis ISO RGD:68486 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32805337 12283472 APOLD1 apolipoprotein L domain containing 1 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1604585 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12283472 APOLD1 apolipoprotein L domain containing 1 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1604585 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12283472 APOLD1 apolipoprotein L domain containing 1 gene DOID:630 genetic disease ISO RGD:1604585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283491 TMEM247 transmembrane protein 247 gene DOID:3883 Lynch syndrome ISO RGD:6482527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12283491 TMEM247 transmembrane protein 247 gene DOID:630 genetic disease ISO RGD:6482527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283500 MESP2 mesoderm posterior bHLH transcription factor 2 gene DOID:0050568 spondylocostal dysostosis ISO RGD:1606451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis PMID:25741868 12283500 MESP2 mesoderm posterior bHLH transcription factor 2 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1606451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12283500 MESP2 mesoderm posterior bHLH transcription factor 2 gene DOID:0112362 spondylocostal dysostosis 2 ISO RGD:1606451 D RGD:7240710 20180130 OMIM 12283500 MESP2 mesoderm posterior bHLH transcription factor 2 gene DOID:0112362 spondylocostal dysostosis 2 ISO RGD:1606451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive PMID:15122512|PMID:18485326|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9242490 12283500 MESP2 mesoderm posterior bHLH transcription factor 2 gene DOID:2717 Bloom syndrome ISO RGD:1606451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12283500 MESP2 mesoderm posterior bHLH transcription factor 2 gene DOID:630 genetic disease ISO RGD:1606451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12283500 MESP2 mesoderm posterior bHLH transcription factor 2 gene DOID:9006006 Spondylocostal Dysostosis, Autosomal Recessive ISO RGD:1606451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12283500 MESP2 mesoderm posterior bHLH transcription factor 2 gene DOID:9256 colorectal cancer ISO RGD:1606451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12283515 MIR192 microRNA mir-192 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1353067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12283515 MIR192 microRNA mir-192 gene DOID:1059 intellectual disability ISO RGD:1353067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12283515 MIR192 microRNA mir-192 gene DOID:13768 opisthorchiasis ISO RGD:1353067 D RGD:9068941 20210205 RGD RNA:increased expression:urine PMID:26456596|REF_RGD_ID:41404678 12283515 MIR192 microRNA mir-192 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12283515 MIR192 microRNA mir-192 gene DOID:2043 hepatitis B ISO RGD:1353067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12283515 MIR192 microRNA mir-192 gene DOID:2746 glycogen storage disease V ISO RGD:1353067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12283515 MIR192 microRNA mir-192 gene DOID:3021 acute kidney failure ISO RGD:1353067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 12283515 MIR192 microRNA mir-192 gene DOID:3070 high grade glioma ISO RGD:1353067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12283515 MIR192 microRNA mir-192 gene DOID:4947 cholangiocarcinoma ISO RGD:1353067 D RGD:9068941 20210205 RGD RNA:increased expression:urine PMID:26456596|REF_RGD_ID:41404678 12283515 MIR192 microRNA mir-192 gene DOID:4989 pancreatitis ISO RGD:1353067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12283515 MIR192 microRNA mir-192 gene DOID:557 kidney disease ISO RGD:1353067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24880025 12283515 MIR192 microRNA mir-192 gene DOID:7474 malignant pleural mesothelioma ISO RGD:1353067 D RGD:9068941 20220901 RGD miRNA:decreased expression:pleura (human) PMID:26125439|REF_RGD_ID:11529530 12283515 MIR192 microRNA mir-192 gene DOID:9005369 Hepatomegaly ISO RGD:1353067 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28483554 12283515 MIR192 microRNA mir-192 gene DOID:9005749 Necrosis ISO RGD:1353067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24880025 12283515 MIR192 microRNA mir-192 gene DOID:9005837 Cholangiofibrosis ISO RGD:1353067 D RGD:9068941 20210205 RGD RNA:increased expression:urine PMID:26456596|REF_RGD_ID:41404678 12283515 MIR192 microRNA mir-192 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22045675|PMID:25359176|PMID:28483554|PMID:28545106 12283515 MIR192 microRNA mir-192 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478399 12283525 FAM170B family with sequence similarity 170 member B gene DOID:11372 megacolon ISO RGD:1346857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12283525 FAM170B family with sequence similarity 170 member B gene DOID:5419 schizophrenia ISO RGD:1346857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12283525 FAM170B family with sequence similarity 170 member B gene DOID:630 genetic disease ISO RGD:1346857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283581 PASD1 PAS domain containing repressor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12283581 PASD1 PAS domain containing repressor 1 gene DOID:12849 autistic disorder ISO RGD:1346433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12283581 PASD1 PAS domain containing repressor 1 gene DOID:630 genetic disease ISO RGD:1346433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283650 USP15 ubiquitin specific peptidase 15 gene DOID:630 genetic disease ISO RGD:733296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283650 USP15 ubiquitin specific peptidase 15 gene DOID:8552 chronic myeloid leukemia ISO RGD:733296 D RGD:9068941 20220414 RGD mRNA, protein:decreased expression:PBMC (human) PMID:31952546|REF_RGD_ID:151667904 12283650 USP15 ubiquitin specific peptidase 15 gene DOID:9743 diabetic neuropathy ISO RGD:733296 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35478295 12283682 CALM3 calmodulin 3 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:737387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 12283682 CALM3 calmodulin 3 gene DOID:0080326 familial hypertrophic cardiomyopathy susceptibility ISO RGD:737387 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:¿¿¿34T>A(human) PMID:19429631|REF_RGD_ID:13792494 12283682 CALM3 calmodulin 3 gene DOID:0110644 long QT syndrome 1 ISO RGD:737387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:17576681|PMID:28492532|PMID:9536098 12283682 CALM3 calmodulin 3 gene DOID:0110644 long QT syndrome 1 ISO RGD:737387 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:17576681|PMID:25741868|PMID:28492532|PMID:31454269|PMID:9536098 12283682 CALM3 calmodulin 3 gene DOID:0110644 long QT syndrome 1 ISO RGD:737387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:11569915|PMID:17576681|PMID:23388215|PMID:24563457|PMID:24816216|PMID:24958779|PMID:25460178|PMID:25741868|PMID:26969752|PMID:27516456|PMID:28491681|PMID:28492532|PMID:31454269|PMID:9536098 12283682 CALM3 calmodulin 3 gene DOID:9007211 Long QT Syndrome 16 ISO RGD:737387 D RGD:7240710 20200226 OMIM 12283682 CALM3 calmodulin 3 gene DOID:9007211 Long QT Syndrome 16 ISO RGD:737387 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 16 PMID:17576681|PMID:25460178|PMID:25741868|PMID:28492532|PMID:31454269|PMID:9536098 12283692 WDR88 WD repeat domain 88 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1606735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12283692 WDR88 WD repeat domain 88 gene DOID:630 genetic disease ISO RGD:1606735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283692 WDR88 WD repeat domain 88 gene DOID:9119 acute myeloid leukemia ISO RGD:1606735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:28492532 12283710 ZMYND11 zinc finger MYND-type containing 11 gene DOID:0070060 autosomal dominant intellectual developmental disorder 30 ISO RGD:1606319 D RGD:7240710 20180130 OMIM 12283710 ZMYND11 zinc finger MYND-type containing 11 gene DOID:0070060 autosomal dominant intellectual developmental disorder 30 ISO RGD:1606319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 30, WITH SPEECH DELAY AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 30 PMID:25217958|PMID:25741868|PMID:25741899|PMID:27334371|PMID:28191890|PMID:28492532|PMID:28708303|PMID:28933030|PMID:32097528|PMID:34216016 12283710 ZMYND11 zinc finger MYND-type containing 11 gene DOID:10534 stomach cancer ISO RGD:1606319 D RGD:9068941 20220819 RGD mRNA:decreased expression:stomach (human) PMID:34969361|REF_RGD_ID:153344525 12283710 ZMYND11 zinc finger MYND-type containing 11 gene DOID:1059 intellectual disability ISO RGD:1606319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25217958 12283710 ZMYND11 zinc finger MYND-type containing 11 gene DOID:12849 autistic disorder ISO RGD:1606319 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25217958 12283710 ZMYND11 zinc finger MYND-type containing 11 gene DOID:5419 schizophrenia ISO RGD:1606319 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12283710 ZMYND11 zinc finger MYND-type containing 11 gene DOID:630 genetic disease ISO RGD:1606319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25741899|PMID:27334371|PMID:28191890|PMID:28492532|PMID:28933030 12283710 ZMYND11 zinc finger MYND-type containing 11 gene DOID:9002091 Paragangliomas 5 ISO RGD:1606319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paragangliomas 5 12283710 ZMYND11 zinc finger MYND-type containing 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:25741899|PMID:27334371|PMID:28191890|PMID:28933030 12283710 ZMYND11 zinc finger MYND-type containing 11 gene DOID:9008086 Developmental Disabilities ISO RGD:1606319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741899|PMID:27334371|PMID:28191890|PMID:28933030 12283710 ZMYND11 zinc finger MYND-type containing 11 gene DOID:9008879 Self Mutilation ISO RGD:1606319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Self-mutilation PMID:25741868 12283740 PTGR2 prostaglandin reductase 2 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1321465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 12283740 PTGR2 prostaglandin reductase 2 gene DOID:1059 intellectual disability ISO RGD:1321465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12283740 PTGR2 prostaglandin reductase 2 gene DOID:630 genetic disease ISO RGD:1321465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283757 TNRC6C trinucleotide repeat containing adaptor 6C gene DOID:0080600 COVID-19 ISO RGD:1349772 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12283757 TNRC6C trinucleotide repeat containing adaptor 6C gene DOID:1059 intellectual disability ISO RGD:1349772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12283757 TNRC6C trinucleotide repeat containing adaptor 6C gene DOID:13777 epidermodysplasia verruciformis ISO RGD:1349772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis PMID:28492532 12283757 TNRC6C trinucleotide repeat containing adaptor 6C gene DOID:630 genetic disease ISO RGD:1349772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283785 MS4A1 membrane spanning 4-domains A1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1323750 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:25741868 12283785 MS4A1 membrane spanning 4-domains A1 gene DOID:0081148 common variable immunodeficiency 5 ISO RGD:1323750 D RGD:7240710 20190710 OMIM 12283785 MS4A1 membrane spanning 4-domains A1 gene DOID:0081148 common variable immunodeficiency 5 ISO RGD:1323750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 5 PMID:25741868|PMID:28492532 12283785 MS4A1 membrane spanning 4-domains A1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323750 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12283785 MS4A1 membrane spanning 4-domains A1 gene DOID:1059 intellectual disability ISO RGD:1323750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12283785 MS4A1 membrane spanning 4-domains A1 gene DOID:12177 common variable immunodeficiency ISO RGD:1323750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12283785 MS4A1 membrane spanning 4-domains A1 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1323750 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 12283785 MS4A1 membrane spanning 4-domains A1 gene DOID:1749 squamous cell carcinoma ISO RGD:1323750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22514692 12283785 MS4A1 membrane spanning 4-domains A1 gene DOID:2921 glomerulonephritis ISO RGD:1311999 D RGD:9068941 20200609 RGD protein:increased expression:kidney, glomerulus (rat) PMID:7538648|REF_RGD_ID:2316995 12283785 MS4A1 membrane spanning 4-domains A1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1323750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22514692 12283785 MS4A1 membrane spanning 4-domains A1 gene DOID:3910 lung adenocarcinoma ISO RGD:1323750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22514692 12283785 MS4A1 membrane spanning 4-domains A1 gene DOID:5119 ovarian cyst ISO RGD:1323750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12283785 MS4A1 membrane spanning 4-domains A1 gene DOID:630 genetic disease ISO RGD:1323750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12283785 MS4A1 membrane spanning 4-domains A1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1323750 D RGD:9068941 20200609 RGD PMID:19911856|REF_RGD_ID:2316994 12283801 BCL7B BAF chromatin remodeling complex subunit BCL7B gene DOID:0060041 autism spectrum disorder ISO RGD:1349003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12283801 BCL7B BAF chromatin remodeling complex subunit BCL7B gene DOID:10923 sickle cell anemia ISO RGD:1349003 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12283801 BCL7B BAF chromatin remodeling complex subunit BCL7B gene DOID:12849 autistic disorder ISO RGD:1349003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12283801 BCL7B BAF chromatin remodeling complex subunit BCL7B gene DOID:1928 Williams-Beuren syndrome ISO RGD:1349003 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 12283801 BCL7B BAF chromatin remodeling complex subunit BCL7B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12283801 BCL7B BAF chromatin remodeling complex subunit BCL7B gene DOID:5419 schizophrenia ISO RGD:1349003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12283801 BCL7B BAF chromatin remodeling complex subunit BCL7B gene DOID:630 genetic disease ISO RGD:1349003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283801 BCL7B BAF chromatin remodeling complex subunit BCL7B gene DOID:8445 intestinal volvulus ISO RGD:1349003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12283801 BCL7B BAF chromatin remodeling complex subunit BCL7B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12283801 BCL7B BAF chromatin remodeling complex subunit BCL7B gene DOID:9008419 Volvulus Of Midgut ISO RGD:1349003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12283827 LSM5 LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:11612 polycystic ovary syndrome ISO RGD:1318552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12283827 LSM5 LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12283827 LSM5 LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:630 genetic disease ISO RGD:1318552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283838 SMIM15 small integral membrane protein 15 gene DOID:630 genetic disease ISO RGD:2293892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283838 SMIM15 small integral membrane protein 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2293892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12283850 SWI5 SWI5 homologous recombination repair protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350090 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12283850 SWI5 SWI5 homologous recombination repair protein gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350090 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12283850 SWI5 SWI5 homologous recombination repair protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350090 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12283850 SWI5 SWI5 homologous recombination repair protein gene DOID:630 genetic disease ISO RGD:1350090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283893 RPL6 ribosomal protein L6 gene DOID:0060578 Noonan syndrome 1 ISO RGD:733694 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 12283893 RPL6 ribosomal protein L6 gene DOID:0080548 Noonan syndrome with multiple lentigines 1 ISO RGD:733694 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 1 12283893 RPL6 ribosomal protein L6 gene DOID:0080690 RASopathy ISO RGD:733694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12283893 RPL6 ribosomal protein L6 gene DOID:0111512 metachondromatosis ISO RGD:733694 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Metachondromatosis 12283893 RPL6 ribosomal protein L6 gene DOID:14330 Parkinson's disease ISO RGD:733694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18353766 12283893 RPL6 ribosomal protein L6 gene DOID:305 carcinoma ISO RGD:733694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12283893 RPL6 ribosomal protein L6 gene DOID:630 genetic disease ISO RGD:733694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283893 RPL6 ribosomal protein L6 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12283893 RPL6 ribosomal protein L6 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12283910 TMEM19 transmembrane protein 19 gene DOID:630 genetic disease ISO RGD:1351529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283919 SLC52A2 solute carrier family 52 member 2 gene DOID:0050694 Brown-Vialetto-Van Laere syndrome ISO RGD:1349767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12283919 SLC52A2 solute carrier family 52 member 2 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1349767 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:24253200|PMID:25741868|PMID:27148561|PMID:28492532 12283919 SLC52A2 solute carrier family 52 member 2 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1349767 D RGD:7240710 20180130 OMIM 12283919 SLC52A2 solute carrier family 52 member 2 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1349767 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:10797435|PMID:16199547|PMID:17576681|PMID:20301336|PMID:20447487|PMID:21109228|PMID:22740598|PMID:22824638|PMID:22864630|PMID:23107375|PMID:23243084|PMID:23289980|PMID:24033266|PMID:24253200|PMID:24616084|PMID:25133958|PMID:25356970|PMID:25741868|PMID:25798182|PMID:25807286|PMID:26633542|PMID:26669662|PMID:27148561|PMID:27518768|PMID:28116953|PMID:28251916|PMID:28492532|PMID:28781516|PMID:28824526|PMID:29053833|PMID:29287867|PMID:29858556|PMID:29913018|PMID:29915382|PMID:29961509|PMID:30343981|PMID:30377535|PMID:31064337|PMID:31152317|PMID:32827528|PMID:33036493|PMID:33201363|PMID:33258288|PMID:34428344|PMID:34602496|PMID:9536098 12283919 SLC52A2 solute carrier family 52 member 2 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1349767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12283919 SLC52A2 solute carrier family 52 member 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1349767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 12283919 SLC52A2 solute carrier family 52 member 2 gene DOID:4621 holoprosencephaly ISO RGD:1349767 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12283919 SLC52A2 solute carrier family 52 member 2 gene DOID:630 genetic disease ISO RGD:1349767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10797435|PMID:22740598|PMID:22864630|PMID:23107375|PMID:24033266|PMID:24253200|PMID:24616084|PMID:25133958|PMID:25356970|PMID:25741868|PMID:25798182|PMID:25807286|PMID:26669662|PMID:27148561|PMID:27518768|PMID:28116953|PMID:28251916|PMID:28492532|PMID:28781516|PMID:29053833|PMID:29858556|PMID:29913018|PMID:29915382|PMID:29961509|PMID:30343981|PMID:30377535|PMID:31152317|PMID:33036493|PMID:33201363|PMID:33258288|PMID:34428344|PMID:34602496 12283928 NDUFAF7 NADH:ubiquinone oxidoreductase complex assembly factor 7 gene DOID:0080690 RASopathy ISO RGD:1602217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12283928 NDUFAF7 NADH:ubiquinone oxidoreductase complex assembly factor 7 gene DOID:630 genetic disease ISO RGD:1602217 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12283962 RPL18 ribosomal protein L18 gene DOID:0111896 Diamond-Blackfan anemia 18 ISO RGD:733647 D RGD:7240710 20190315 OMIM 12283962 RPL18 ribosomal protein L18 gene DOID:0111896 Diamond-Blackfan anemia 18 ISO RGD:733647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 18 PMID:28280134 12283962 RPL18 ribosomal protein L18 gene DOID:630 genetic disease ISO RGD:733647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283962 RPL18 ribosomal protein L18 gene DOID:9000217 Stomach Neoplasms ISO RGD:733647 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12283962 RPL18 ribosomal protein L18 gene DOID:9000918 Disease Progression ISO RGD:733647 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12283982 BCL2L13 BCL2 like 13 gene DOID:0111996 immunodeficiency 51 ISO RGD:1315911 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12283982 BCL2L13 BCL2 like 13 gene DOID:630 genetic disease ISO RGD:1315911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12283982 BCL2L13 BCL2 like 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12283982 BCL2L13 BCL2 like 13 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1315911 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12284018 RORA RAR related orphan receptor A gene DOID:1059 intellectual disability ISO RGD:1318175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual deficiency PMID:29656859 12284018 RORA RAR related orphan receptor A gene DOID:12849 autistic disorder ISO RGD:1318175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20375269|PMID:21359227 12284018 RORA RAR related orphan receptor A gene DOID:2717 Bloom syndrome ISO RGD:1318175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12284018 RORA RAR related orphan receptor A gene DOID:630 genetic disease ISO RGD:1318175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:29656859 12284018 RORA RAR related orphan receptor A gene DOID:9000217 Stomach Neoplasms ISO RGD:1318175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12284018 RORA RAR related orphan receptor A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12284018 RORA RAR related orphan receptor A gene DOID:9009192 INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA ISO RGD:1318175 D RGD:7240710 20190315 OMIM 12284018 RORA RAR related orphan receptor A gene DOID:9009192 INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA ISO RGD:1318175 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with or without epilepsy or cerebellar ataxia PMID:25741868|PMID:28492532|PMID:29656859|PMID:29758562 12284018 RORA RAR related orphan receptor A gene DOID:9256 colorectal cancer ISO RGD:1318175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12284040 SNX19 sorting nexin 19 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1604682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12284040 SNX19 sorting nexin 19 gene DOID:5419 schizophrenia ISO RGD:1604682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12284040 SNX19 sorting nexin 19 gene DOID:630 genetic disease ISO RGD:1604682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284040 SNX19 sorting nexin 19 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12284040 SNX19 sorting nexin 19 gene DOID:9007661 Dwarfism ISO RGD:1604682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12284058 MYO18A myosin XVIIIA gene DOID:10283 prostate cancer ISO RGD:1605490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12284058 MYO18A myosin XVIIIA gene DOID:630 genetic disease ISO RGD:1605490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284058 MYO18A myosin XVIIIA gene DOID:9008386 Hydrops Fetalis ISO RGD:1605490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrops fetalis PMID:25741868 12284157 LOC482174 transmembrane protease serine 11F gene DOID:630 genetic disease ISO RGD:1602625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284157 LOC482174 transmembrane protease serine 11F gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1602625 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12284176 FAT4 FAT atypical cadherin 4 gene DOID:0060238 Van Maldergem syndrome ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Van Maldergem syndrome PMID:24033266 12284176 FAT4 FAT atypical cadherin 4 gene DOID:0060366 Hennekam syndrome ISO RGD:1342504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12284176 FAT4 FAT atypical cadherin 4 gene DOID:0060673 Peters anomaly ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459|PMID:28492532 12284176 FAT4 FAT atypical cadherin 4 gene DOID:0080205 CAKUT ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:28492532|PMID:28878612|PMID:30143558 12284176 FAT4 FAT atypical cadherin 4 gene DOID:0080585 Van Maldergem syndrome 1 ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Van Maldergem syndrome 1 PMID:28492532 12284176 FAT4 FAT atypical cadherin 4 gene DOID:0080586 Van Maldergem syndrome 2 ISO RGD:1342504 D RGD:7240710 20180130 OMIM 12284176 FAT4 FAT atypical cadherin 4 gene DOID:0080586 Van Maldergem syndrome 2 ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Van Maldergem syndrome 2 PMID:22469822|PMID:22473091|PMID:24033266|PMID:24056717|PMID:24913602|PMID:25741868|PMID:2624276|PMID:28492532|PMID:28878612|PMID:30143558|PMID:31384091 12284176 FAT4 FAT atypical cadherin 4 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1342504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459|PMID:28492532 12284176 FAT4 FAT atypical cadherin 4 gene DOID:10907 microcephaly ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12284176 FAT4 FAT atypical cadherin 4 gene DOID:1909 melanoma ISO RGD:1342504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22197931 12284176 FAT4 FAT atypical cadherin 4 gene DOID:2975 cystic kidney disease ISO RGD:1342504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18604206 12284176 FAT4 FAT atypical cadherin 4 gene DOID:299 adenocarcinoma ISO RGD:1342504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 12284176 FAT4 FAT atypical cadherin 4 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1342504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 12284176 FAT4 FAT atypical cadherin 4 gene DOID:5409 lung small cell carcinoma ISO RGD:1342504 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 12284176 FAT4 FAT atypical cadherin 4 gene DOID:630 genetic disease ISO RGD:1342504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12284176 FAT4 FAT atypical cadherin 4 gene DOID:9000217 Stomach Neoplasms ISO RGD:1342504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 12284176 FAT4 FAT atypical cadherin 4 gene DOID:9001947 Hennekam Lymphangiectasia-Lymphedema Syndrome 2 ISO RGD:1342504 D RGD:7240710 20180130 OMIM 12284176 FAT4 FAT atypical cadherin 4 gene DOID:9001947 Hennekam Lymphangiectasia-Lymphedema Syndrome 2 ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 2 PMID:22473091|PMID:24033266|PMID:24056717|PMID:24913602|PMID:25741868|PMID:2624276|PMID:28492532 12284176 FAT4 FAT atypical cadherin 4 gene DOID:9002205 Periventricular Nodular Heterotopia 2 ISO RGD:1342504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24056717 12284176 FAT4 FAT atypical cadherin 4 gene DOID:9003821 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 PMID:25741868 12284176 FAT4 FAT atypical cadherin 4 gene DOID:9006095 Ascites ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ascites PMID:25741868|PMID:28492532 12284176 FAT4 FAT atypical cadherin 4 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:1342504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY PMID:25741868|PMID:28492532 12284197 PARD6G par-6 family cell polarity regulator gamma gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1312794 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12284197 PARD6G par-6 family cell polarity regulator gamma gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1312794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 12284197 PARD6G par-6 family cell polarity regulator gamma gene DOID:630 genetic disease ISO RGD:1312794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284197 PARD6G par-6 family cell polarity regulator gamma gene DOID:6420 pulmonary valve stenosis ISO RGD:1312794 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12284197 PARD6G par-6 family cell polarity regulator gamma gene DOID:8445 intestinal volvulus ISO RGD:1312794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12284197 PARD6G par-6 family cell polarity regulator gamma gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1312794 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 12284197 PARD6G par-6 family cell polarity regulator gamma gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12284197 PARD6G par-6 family cell polarity regulator gamma gene DOID:9008419 Volvulus Of Midgut ISO RGD:1312794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12284212 RBM19 RNA binding motif protein 19 gene DOID:630 genetic disease ISO RGD:1318980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284241 BCAT1 branched chain amino acid transaminase 1 gene DOID:0080600 COVID-19 ISO RGD:1345403 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12284241 BCAT1 branched chain amino acid transaminase 1 gene DOID:13580 cholestasis ISO RGD:1345403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12284241 BCAT1 branched chain amino acid transaminase 1 gene DOID:630 genetic disease ISO RGD:1345403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284241 BCAT1 branched chain amino acid transaminase 1 gene DOID:9000998 Brain Injuries ISO RGD:2195 D RGD:9068941 20200609 RGD Protein:increased expression:neurons PMID:10686349|REF_RGD_ID:631308 12284241 BCAT1 branched chain amino acid transaminase 1 gene DOID:9004657 Weight Gain ISO RGD:1345403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:0070221 progressive familial intrahepatic cholestasis ISO RGD:730944 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis PMID:10579978|PMID:12370274|PMID:12717091|PMID:15300568|PMID:16039748|PMID:16290310|PMID:16641580|PMID:17855769|PMID:18395098|PMID:18692205|PMID:19101985|PMID:19750581|PMID:20232290|PMID:20683201|PMID:22364601|PMID:24339557|PMID:25741868|PMID:26382629|PMID:26678486|PMID:26858187|PMID:27050426|PMID:27114171|PMID:27426735|PMID:28027573|PMID:28492532|PMID:28733223|PMID:29104077|PMID:29412511|PMID:30210030|PMID:31745229|PMID:32087350|PMID:32309332|PMID:32581362|PMID:32808743|PMID:32860008|PMID:33215027|PMID:33915153|PMID:34016879|PMID:9806540 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:0070222 progressive familial intrahepatic cholestasis 2 ISO RGD:730944 D RGD:7240710 20180130 OMIM 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:0070222 progressive familial intrahepatic cholestasis 2 ISO RGD:730944 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial intrahepatic cholestasis type 2 | ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2 PMID:10579978|PMID:12370274|PMID:12717091|PMID:14672610|PMID:14999697|PMID:15077010|PMID:15300568|PMID:15317749|PMID:15791618|PMID:16039748|PMID:16199547|PMID:16290310|PMID:16641580|PMID:16763017|PMID:16871584|PMID:17855769|PMID:17947449|PMID:18395098|PMID:18692205|PMID:18798335|PMID:18937870|PMID:19101985|PMID:19571440|PMID:19750581|PMID:19797282|PMID:19845854|PMID:20010382|PMID:20232290|PMID:20414253|PMID:20583290|PMID:20683201|PMID:20799350|PMID:21404481|PMID:21490445|PMID:22364601|PMID:22609309|PMID:22795478|PMID:23022423|PMID:23279303|PMID:23684896|PMID:23750872|PMID:24033266|PMID:24115678|PMID:24214725|PMID:24231640|PMID:24339557|PMID:24402531|PMID:24530123|PMID:24627769|PMID:24969679|PMID:24991443|PMID:25716872|PMID:25741868|PMID:25771912|PMID:25847299|PMID:26019043|PMID:26382629|PMID:26678486|PMID:26858187|PMID:27050426|PMID:27114171|PMID:27153395|PMID:27239116|PMID:27368585|PMID:27426735|PMID:28027573|PMID:28492532|PMID:28733223|PMID:28776642|PMID:29104077|PMID:29412511|PMID:30210030|PMID:31015375|PMID:31319225|PMID:31745229|PMID:32087350|PMID:32309332|PMID:32581362|PMID:32808743|PMID:32860008|PMID:33915153|PMID:34008892|PMID:9806540 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:0070222 progressive familial intrahepatic cholestasis 2 disease_progression ISO RGD:730944 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.D482G(human) PMID:20447715|REF_RGD_ID:14402418 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:0070222 progressive familial intrahepatic cholestasis 2 disease_progression ISO RGD:730944 D RGD:9068941 20200609 RGD DNA:mutation:exon:c.1120G>A(p.Gly374Ser)human PMID:23758865|REF_RGD_ID:14688048 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:0070223 progressive familial intrahepatic cholestasis 3 ISO RGD:730944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MDR3 deficiency PMID:16641580|PMID:18395098|PMID:19101985|PMID:22364601|PMID:25741868|PMID:27114171|PMID:28492532|PMID:28733223|PMID:33915153 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:0070226 progressive familial intrahepatic cholestasis 1 ISO RGD:730944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21056966 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:0070229 intrahepatic cholestasis of pregnancy 3 ISO RGD:730944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 PMID:10579978|PMID:12370274|PMID:12717091|PMID:15300568|PMID:16039748|PMID:16871584|PMID:17855769|PMID:18395098|PMID:18692205|PMID:19101985|PMID:19750581|PMID:20232290|PMID:20583290|PMID:20683201|PMID:23022423|PMID:23279303|PMID:23750872|PMID:24231640|PMID:24339557|PMID:24402531|PMID:25741868|PMID:26126923|PMID:26858187|PMID:27050426|PMID:27153395|PMID:27426735|PMID:28492532|PMID:28733223|PMID:29104077|PMID:29412511|PMID:30091450|PMID:30934130|PMID:31745229|PMID:32309332|PMID:32581362|PMID:32808743|PMID:9806540 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:0070232 benign recurrent intrahepatic cholestasis 2 ISO RGD:730944 D RGD:7240710 20180130 OMIM 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:0070232 benign recurrent intrahepatic cholestasis 2 ISO RGD:730944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Benign recurrent intrahepatic cholestasis type 2 PMID:10579978|PMID:12370274|PMID:12717091|PMID:14672610|PMID:15300568|PMID:15791618|PMID:16039748|PMID:16199547|PMID:16641580|PMID:16871584|PMID:17855769|PMID:18395098|PMID:18692205|PMID:18798335|PMID:19101985|PMID:19750581|PMID:20232290|PMID:20583290|PMID:20683201|PMID:23022423|PMID:23279303|PMID:23750872|PMID:24231640|PMID:24339557|PMID:24402531|PMID:24711118|PMID:25716872|PMID:25741868|PMID:25847299|PMID:26019043|PMID:26382629|PMID:26678486|PMID:26858187|PMID:27050426|PMID:27153395|PMID:27426735|PMID:28492532|PMID:28733223|PMID:29104077|PMID:29412511|PMID:31745229|PMID:32309332|PMID:32581362|PMID:32808743|PMID:33215027|PMID:34008892|PMID:34016879|PMID:9806540 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:619930 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:13580 cholestasis ISO RGD:619930 D RGD:9068941 20200609 RGD PMID:12702498|REF_RGD_ID:1598571 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:13580 cholestasis ISO RGD:619930 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:29087027|REF_RGD_ID:14402412 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:13580 cholestasis ISO RGD:730944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11179459|PMID:22461449|PMID:24713091 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:13580 cholestasis susceptibility ISO RGD:730945 D RGD:9068941 20200609 RGD PMID:27593105|REF_RGD_ID:14402414 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:13580 cholestasis treatment ISO RGD:619930 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:27090119|REF_RGD_ID:15090804 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:1852 intrahepatic cholestasis ISO RGD:730944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive intrahepatic cholestasis PMID:16641580|PMID:18395098|PMID:19101985|PMID:22364601|PMID:25741868|PMID:27114171|PMID:28492532|PMID:28733223|PMID:33915153 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:1852 intrahepatic cholestasis susceptibility ISO RGD:730944 D RGD:9068941 20200609 RGD PMID:9806540|REF_RGD_ID:1598583 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:730944 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:2236 congenital afibrinogenemia ISO RGD:730944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22120137 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:3571 liver cancer ISO RGD:730945 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:29651702|REF_RGD_ID:14402411 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:5082 liver cirrhosis severity ISO RGD:730944 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNP:cds:1331T>C, p.V444A,(rs2287622)(human) PMID:29755014|REF_RGD_ID:14402415 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:630 genetic disease ISO RGD:730944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10579978|PMID:18395098|PMID:20232290|PMID:26516723|PMID:28492532 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:9000808 Hypercholesterolemia ISO RGD:730945 D RGD:9068941 20200609 RGD PMID:21726512|REF_RGD_ID:14688050 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:619930 D RGD:9068941 20200609 RGD PMID:15853769|REF_RGD_ID:1598580 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:730944 D RGD:9068941 20200609 RGD DNA:SNP:cds:c.1331T>C (rs2287622)(human) PMID:22681771|REF_RGD_ID:14402416 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:730944 D RGD:9068941 20200609 RGD DNA:SNP:cds:1331T>C, p.V444A,(rs2287622)(human) PMID:29755014|REF_RGD_ID:14402415 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:730944 D RGD:9068941 20200609 RGD DNA:SNP:cds:c.1331T>C (rs2287622)(human) PMID:29091211|REF_RGD_ID:14402417 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:9005930 Endotoxemia ISO RGD:619930 D RGD:9068941 20200609 RGD PMID:9828229|REF_RGD_ID:1598596 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:9006202 Pruritus ISO RGD:730944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pruritus PMID:15300568|PMID:17855769|PMID:25741868|PMID:28492532|PMID:31015375 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:730944 D RGD:9068941 20200609 RGD DNA:SNP: :rs2287616(human) PMID:27293027|REF_RGD_ID:14402413 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12284259 ABCB11 ATP binding cassette subfamily B member 11 gene DOID:9970 obesity ISO RGD:730945 D RGD:9068941 20200609 RGD PMID:21726512|REF_RGD_ID:14688050 12284301 PPP1R15B protein phosphatase 1 regulatory subunit 15B gene DOID:0080600 COVID-19 ISO RGD:1317432 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12284301 PPP1R15B protein phosphatase 1 regulatory subunit 15B gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1317432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12284301 PPP1R15B protein phosphatase 1 regulatory subunit 15B gene DOID:12849 autistic disorder ISO RGD:1317432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12284301 PPP1R15B protein phosphatase 1 regulatory subunit 15B gene DOID:1540 parathyroid carcinoma ISO RGD:1317432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12284301 PPP1R15B protein phosphatase 1 regulatory subunit 15B gene DOID:630 genetic disease ISO RGD:1317432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12284301 PPP1R15B protein phosphatase 1 regulatory subunit 15B gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1317432 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12284301 PPP1R15B protein phosphatase 1 regulatory subunit 15B gene DOID:9006272 Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 ISO RGD:1317432 D RGD:7240710 20190315 OMIM 12284301 PPP1R15B protein phosphatase 1 regulatory subunit 15B gene DOID:9006272 Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 ISO RGD:1317432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 2 PMID:25741868|PMID:26159176|PMID:26307080|PMID:28492532 12284301 PPP1R15B protein phosphatase 1 regulatory subunit 15B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12284307 CTSE cathepsin E gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:736046 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12284307 CTSE cathepsin E gene DOID:10283 prostate cancer ISO RGD:736046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12284307 CTSE cathepsin E gene DOID:12849 autistic disorder ISO RGD:736046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12284307 CTSE cathepsin E gene DOID:1540 parathyroid carcinoma ISO RGD:736046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12284307 CTSE cathepsin E gene DOID:3310 atopic dermatitis ISO RGD:10422 D RGD:9068941 20220825 MouseDO OMIM:603165 12284307 CTSE cathepsin E gene DOID:630 genetic disease ISO RGD:736046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284307 CTSE cathepsin E gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12284307 CTSE cathepsin E gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736046 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12284307 CTSE cathepsin E gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12284307 CTSE cathepsin E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12284323 KLF3 KLF transcription factor 3 gene DOID:630 genetic disease ISO RGD:1343244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284341 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:0080338 familial erythrocytosis 3 ISO RGD:735297 D RGD:7240710 20180130 OMIM 12284341 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:0080338 familial erythrocytosis 3 ISO RGD:735297 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Erythrocytosis, familial, 3 PMID:16407130|PMID:17576681|PMID:17579185|PMID:19092153|PMID:24115288|PMID:24482100|PMID:25741868|PMID:28492532|PMID:29741264|PMID:29790589|PMID:9536098 12284341 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:10763 hypertension ISO RGD:631375 D RGD:9068941 20200609 RGD PMID:22686466|REF_RGD_ID:11252087 12284341 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:10780 primary polycythemia ISO RGD:735297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial erythrocytosis 12284341 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1332220 D RGD:9068941 20200609 RGD PMID:18096761|REF_RGD_ID:11251770 12284341 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:735297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12284341 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:1936 atherosclerosis treatment ISO RGD:1332220 D RGD:9068941 20200609 RGD PMID:26848160|REF_RGD_ID:11251766 12284341 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:3021 acute kidney failure ISO RGD:631375 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:19349364|REF_RGD_ID:11252083 12284341 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:3602 toxic encephalopathy ISO RGD:735297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29471019 12284341 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:4450 renal cell carcinoma ISO RGD:735297 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:20978146|REF_RGD_ID:13504705 12284341 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:5844 myocardial infarction ISO RGD:631375 D RGD:9068941 20200609 RGD PMID:16765982|REF_RGD_ID:11252084 12284341 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:630 genetic disease ISO RGD:735297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12284341 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:8432 polycythemia ISO RGD:1332220 D RGD:9068941 20200609 RGD PMID:24121508|REF_RGD_ID:11251767 12284341 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:8432 polycythemia ISO RGD:735297 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.P317R (950C>G) (human) PMID:16407130|REF_RGD_ID:11251771 12284341 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:8432 polycythemia ISO RGD:735297 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.W334R (c.1000 T>C) (human) PMID:23859443|REF_RGD_ID:11073369 12284341 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:8432 polycythemia ISO RGD:735297 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutation: :multiple PMID:21933857|REF_RGD_ID:11251769 12284341 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:8432 polycythemia ISO RGD:735297 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.N203K, p.K291L, p.K423E (human) PMID:21828119|REF_RGD_ID:11251768 12284341 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:631375 D RGD:9068941 20200609 RGD PMID:16761101|REF_RGD_ID:11252085 12284341 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:631375 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:19349364|REF_RGD_ID:11252083 12284341 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735297 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:21933857|PMID:24115288|PMID:27774468|PMID:28492532|PMID:29790589 12284341 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735297 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21933857|PMID:24115288|PMID:25741868|PMID:27774468|PMID:28492532|PMID:29790589 12284341 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:735297 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 12284341 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:9007838 Myocardial Reperfusion Injury susceptibility ISO RGD:1332220 D RGD:9068941 20200609 RGD PMID:20185832|REF_RGD_ID:11251775 12284341 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:9009039 Hyperemia ISO RGD:1332220 D RGD:9068941 20200609 RGD PMID:18096761|REF_RGD_ID:11251770 12284341 EGLN1 egl-9 family hypoxia inducible factor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12284349 CLDN25 claudin 25 gene DOID:1059 intellectual disability ISO RGD:3436494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12284349 CLDN25 claudin 25 gene DOID:630 genetic disease ISO RGD:3436494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284349 CLDN25 claudin 25 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:3436494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12284352 EIF5A eukaryotic translation initiation factor 5A gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1317562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12284352 EIF5A eukaryotic translation initiation factor 5A gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1317562 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12284352 EIF5A eukaryotic translation initiation factor 5A gene DOID:1059 intellectual disability ISO RGD:1317562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12284352 EIF5A eukaryotic translation initiation factor 5A gene DOID:12177 common variable immunodeficiency ISO RGD:1317562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12284352 EIF5A eukaryotic translation initiation factor 5A gene DOID:2729 dyskeratosis congenita ISO RGD:1317562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12284352 EIF5A eukaryotic translation initiation factor 5A gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1317562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12284352 EIF5A eukaryotic translation initiation factor 5A gene DOID:305 carcinoma ISO RGD:1317562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12284352 EIF5A eukaryotic translation initiation factor 5A gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1317562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12284352 EIF5A eukaryotic translation initiation factor 5A gene DOID:630 genetic disease ISO RGD:1317562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284352 EIF5A eukaryotic translation initiation factor 5A gene DOID:9000039 Spinal Cord Injuries ISO RGD:1308029 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:gastrocnemius PMID:23238062|REF_RGD_ID:10395360 12284352 EIF5A eukaryotic translation initiation factor 5A gene DOID:9000058 Keloid ISO RGD:1317562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12284352 EIF5A eukaryotic translation initiation factor 5A gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1317562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12284352 EIF5A eukaryotic translation initiation factor 5A gene DOID:9003915 Faundes-Banka Syndrome ISO RGD:1317562 D RGD:7240710 20210616 OMIM 12284352 EIF5A eukaryotic translation initiation factor 5A gene DOID:9003915 Faundes-Banka Syndrome ISO RGD:1317562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Faundes-Banka syndrome PMID:25741868|PMID:33547280 12284352 EIF5A eukaryotic translation initiation factor 5A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12284352 EIF5A eukaryotic translation initiation factor 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1317562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12284352 EIF5A eukaryotic translation initiation factor 5A gene DOID:9256 colorectal cancer disease_progression ISO RGD:1317562 D RGD:9068941 20220224 RGD PMID:23322277|REF_RGD_ID:151356994 12284371 LOC606786 beta-galactosidase-1-like protein 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12284371 LOC606786 beta-galactosidase-1-like protein 2 gene DOID:5419 schizophrenia ISO RGD:1606483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12284371 LOC606786 beta-galactosidase-1-like protein 2 gene DOID:630 genetic disease ISO RGD:1606483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284371 LOC606786 beta-galactosidase-1-like protein 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12284395 GNAL G protein subunit alpha L gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1349997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12284395 GNAL G protein subunit alpha L gene DOID:0080855 Parkinsonism ISO RGD:69021 D RGD:9068941 20200609 RGD PMID:22539851|REF_RGD_ID:13513924 12284395 GNAL G protein subunit alpha L gene DOID:0081292 traumatic brain injury ISO RGD:2715 D RGD:9068941 20200609 RGD PMID:29215295|REF_RGD_ID:13513923 12284395 GNAL G protein subunit alpha L gene DOID:0090055 dystonia 25 ISO RGD:1349997 D RGD:7240710 20180130 OMIM 12284395 GNAL G protein subunit alpha L gene DOID:0090055 dystonia 25 ISO RGD:1349997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 25 PMID:23222958|PMID:23449625|PMID:23759320|PMID:24408567|PMID:25741868|PMID:26506956|PMID:27123488|PMID:28492532|PMID:30605297 12284395 GNAL G protein subunit alpha L gene DOID:1059 intellectual disability ISO RGD:1349997 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12284395 GNAL G protein subunit alpha L gene DOID:543 dystonia ISO RGD:1349997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:17576681|PMID:23222958|PMID:23759320|PMID:24151159|PMID:24405754|PMID:24408567|PMID:24500857|PMID:24535567|PMID:24729450|PMID:25741868|PMID:25817843|PMID:26506956|PMID:27123488|PMID:28492532|PMID:30605297|PMID:31731261|PMID:9536098 12284395 GNAL G protein subunit alpha L gene DOID:630 genetic disease ISO RGD:1349997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12284395 GNAL G protein subunit alpha L gene DOID:9001722 Dysarthria ISO RGD:1349997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysarthria PMID:32581362 12284427 CENPO centromere protein O gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1603956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 12284427 CENPO centromere protein O gene DOID:630 genetic disease ISO RGD:1603956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284427 CENPO centromere protein O gene DOID:9970 obesity ISO RGD:1603956 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 PMID:25741868|PMID:29311637 12284459 RPS6KA2 ribosomal protein S6 kinase A2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12284459 RPS6KA2 ribosomal protein S6 kinase A2 gene DOID:3312 bipolar disorder ISO RGD:1348784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12284459 RPS6KA2 ribosomal protein S6 kinase A2 gene DOID:630 genetic disease ISO RGD:1348784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284503 GPR160 G protein-coupled receptor 160 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1345785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 12284503 GPR160 G protein-coupled receptor 160 gene DOID:1062 Fanconi syndrome ISO RGD:1345785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 12284503 GPR160 G protein-coupled receptor 160 gene DOID:630 genetic disease ISO RGD:1345785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284512 THEMIS2 thymocyte selection associated family member 2 gene DOID:630 genetic disease ISO RGD:1353481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284512 THEMIS2 thymocyte selection associated family member 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1353481 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19942713 12284531 MIR652 microRNA mir-652 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1601677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12284531 MIR652 microRNA mir-652 gene DOID:12849 autistic disorder ISO RGD:1601677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12284531 MIR652 microRNA mir-652 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1601677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12284570 TRAP1 TNF receptor associated protein 1 gene DOID:0080205 CAKUT ISO RGD:1346837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:28492532|PMID:30143558 12284570 TRAP1 TNF receptor associated protein 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1346837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12284570 TRAP1 TNF receptor associated protein 1 gene DOID:14679 VACTERL association ISO RGD:1346837 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: VACTERL association PMID:25741868 12284570 TRAP1 TNF receptor associated protein 1 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1346837 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 12284570 TRAP1 TNF receptor associated protein 1 gene DOID:1682 congenital heart disease ISO RGD:1346837 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 12284570 TRAP1 TNF receptor associated protein 1 gene DOID:1826 epilepsy ISO RGD:1346837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12284570 TRAP1 TNF receptor associated protein 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1346837 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12284570 TRAP1 TNF receptor associated protein 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1346837 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:12114483|PMID:15706485|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:21932317|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25741868|PMID:25805166|PMID:27257017|PMID:28492532|PMID:31566936|PMID:32170002|PMID:32594341|PMID:32827181 12284570 TRAP1 TNF receptor associated protein 1 gene DOID:3459 breast carcinoma ISO RGD:1346837 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: HER2 positive breast carcinoma PMID:25741868|PMID:28492532 12284570 TRAP1 TNF receptor associated protein 1 gene DOID:4455 hereditary renal cell carcinoma ISO RGD:1346837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary renal cell carcinoma PMID:28492532 12284570 TRAP1 TNF receptor associated protein 1 gene DOID:630 genetic disease ISO RGD:1346837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12284570 TRAP1 TNF receptor associated protein 1 gene DOID:8398 osteoarthritis ISO RGD:1346837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12284570 TRAP1 TNF receptor associated protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1346837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12284570 TRAP1 TNF receptor associated protein 1 gene DOID:9000918 Disease Progression ISO RGD:1346837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12284611 C37H2orf80 chromosome 37 C2orf80 homolog gene DOID:14557 primary pulmonary hypertension ISO RGD:2298832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12284611 C37H2orf80 chromosome 37 C2orf80 homolog gene DOID:630 genetic disease ISO RGD:2298832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284611 C37H2orf80 chromosome 37 C2orf80 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2298832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12284652 NGB neuroglobin gene DOID:10652 Alzheimer's disease treatment ISO RGD:621461 D RGD:9068941 20200609 RGD PMID:23428737|REF_RGD_ID:9743955 12284652 NGB neuroglobin gene DOID:12510 retinal ischemia ISO RGD:621461 D RGD:9068941 20200609 RGD associated with Ocular Hypertension;protein:increased expression:retina PMID:22553688|REF_RGD_ID:9854634 12284652 NGB neuroglobin gene DOID:224 transient cerebral ischemia ISO RGD:621461 D RGD:9068941 20200609 RGD PMID:12621155|REF_RGD_ID:9743964 12284652 NGB neuroglobin gene DOID:224 transient cerebral ischemia ISO RGD:621461 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA, protein:decreased expression:brain PMID:16647691|REF_RGD_ID:9743952 12284652 NGB neuroglobin gene DOID:224 transient cerebral ischemia treatment ISO RGD:1553611 D RGD:9068941 20200609 RGD PMID:12621155|REF_RGD_ID:9743964 12284652 NGB neuroglobin gene DOID:224 transient cerebral ischemia treatment ISO RGD:621461 D RGD:9068941 20200609 RGD PMID:23342777|REF_RGD_ID:9743965 12284652 NGB neuroglobin gene DOID:630 genetic disease ISO RGD:1352460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284652 NGB neuroglobin gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:621461 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:24281943|REF_RGD_ID:9743950 12284652 NGB neuroglobin gene DOID:9000998 Brain Injuries severity ISO RGD:621461 D RGD:9068941 20200609 RGD PMID:21915648|REF_RGD_ID:9743963 12284652 NGB neuroglobin gene DOID:9001196 Nervous System Heredodegenerative Disorders ISO RGD:1352460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16825958 12284652 NGB neuroglobin gene DOID:9007980 Sleep Deprivation ISO RGD:621461 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:23262504|REF_RGD_ID:9743966 12284652 NGB neuroglobin gene DOID:9588 encephalitis ISO RGD:621461 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid, frontal cortex, serum PMID:19842562|REF_RGD_ID:9743961 12284658 ACSS1 acyl-CoA synthetase short chain family member 1 gene DOID:630 genetic disease ISO RGD:1314754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284658 ACSS1 acyl-CoA synthetase short chain family member 1 gene DOID:9002395 Hypothermia ISO RGD:1615097 D RGD:9068941 20200609 RGD PMID:19187775|REF_RGD_ID:13831305 12284658 ACSS1 acyl-CoA synthetase short chain family member 1 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:1314754 D RGD:9068941 20200609 RGD PMID:27539851|REF_RGD_ID:13831304 12284676 VPS26A VPS26, retromer complex component A gene DOID:630 genetic disease ISO RGD:1343417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284676 VPS26A VPS26, retromer complex component A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343417 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21874001 12284692 KDM2A lysine demethylase 2A gene DOID:1059 intellectual disability ISO RGD:1319753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12284692 KDM2A lysine demethylase 2A gene DOID:3908 lung non-small cell carcinoma ISO RGD:1319753 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:24482232|REF_RGD_ID:9588265 12284692 KDM2A lysine demethylase 2A gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1319753 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach (human) PMID:24200691|REF_RGD_ID:9588263 12284692 KDM2A lysine demethylase 2A gene DOID:6000 congestive heart failure ISO RGD:1616561 D RGD:9068941 20200609 RGD protein:altered localization:promoter (mouse) PMID:25181347|REF_RGD_ID:9588275 12284692 KDM2A lysine demethylase 2A gene DOID:630 genetic disease ISO RGD:1319753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284692 KDM2A lysine demethylase 2A gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1319753 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12284692 KDM2A lysine demethylase 2A gene DOID:9005539 Familial Prostate Cancer ISO RGD:1319753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12284692 KDM2A lysine demethylase 2A gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319753 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12284692 KDM2A lysine demethylase 2A gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 12284723 ARRB1 arrestin beta 1 gene DOID:0060180 colitis ISO RGD:2156 D RGD:9068941 20200609 RGD protein:increased expression:colon (rat) PMID:21066892|REF_RGD_ID:5509893 12284723 ARRB1 arrestin beta 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:732370 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12284723 ARRB1 arrestin beta 1 gene DOID:1059 intellectual disability ISO RGD:732370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12284723 ARRB1 arrestin beta 1 gene DOID:1470 major depressive disorder severity ISO RGD:732370 D RGD:9068941 20200609 RGD protein:decreased expression:blood, mononuclear cell PMID:15514408|REF_RGD_ID:1578803 12284723 ARRB1 arrestin beta 1 gene DOID:5082 liver cirrhosis ISO RGD:732370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 12284723 ARRB1 arrestin beta 1 gene DOID:6000 congestive heart failure treatment ISO RGD:2156 D RGD:9068941 20200609 RGD PMID:21232674|REF_RGD_ID:5509888 12284723 ARRB1 arrestin beta 1 gene DOID:630 genetic disease ISO RGD:732370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284723 ARRB1 arrestin beta 1 gene DOID:9002457 Experimental Arthritis ISO RGD:2156 D RGD:9068941 20200609 RGD protein:increased expression:knee, synoviocyte (rat) PMID:20965243|REF_RGD_ID:5509895 12284723 ARRB1 arrestin beta 1 gene DOID:9004283 Transplant Rejection ISO RGD:2156 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood, leukocyte PMID:21193245|REF_RGD_ID:13506894 12284723 ARRB1 arrestin beta 1 gene DOID:9005605 Arteriovenous Fistula ISO RGD:2156 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:left ventricle (rat) PMID:22015551|REF_RGD_ID:5509867 12284753 TRIM22 tripartite motif containing 22 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1347688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12284753 TRIM22 tripartite motif containing 22 gene DOID:630 genetic disease ISO RGD:1347688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284753 TRIM22 tripartite motif containing 22 gene DOID:9001488 Human Influenza ISO RGD:1347688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12284768 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:0110143 Bartter disease type 2 ISO RGD:732016 D RGD:7240710 20180130 OMIM 12284768 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:0110143 Bartter disease type 2 ISO RGD:732016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bartter disease type 2 PMID:10049979|PMID:10611379|PMID:10878442|PMID:11318951|PMID:12911542|PMID:18391953|PMID:19096086|PMID:19602640|PMID:20699659|PMID:20926634|PMID:22245519|PMID:24400161|PMID:24659592|PMID:24696311|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28630040|PMID:29942493|PMID:31441846|PMID:32573669|PMID:32590952|PMID:32939031|PMID:32997650|PMID:8841184|PMID:9002665|PMID:9015377|PMID:9502574|PMID:9580661|PMID:9727001 12284768 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:732016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12284768 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:10283 prostate cancer ISO RGD:732016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12284768 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:10763 hypertension ISO RGD:732016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 12284768 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:1184 nephrotic syndrome ISO RGD:2957 D RGD:9068941 20200609 RGD PMID:21606114|REF_RGD_ID:7244390 12284768 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:1826 epilepsy ISO RGD:732016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:10611379|PMID:12086641|PMID:28492532|PMID:31672324|PMID:32185747 12284768 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:445 Bartter disease ISO RGD:732016 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Antenatal Bartter syndrome | ClinVar Annotator: match by term: Bartter syndrome PMID:10611379|PMID:10878442|PMID:12081585|PMID:12911542|PMID:16982955|PMID:18391953|PMID:19096086|PMID:21865213|PMID:23782368|PMID:24400161|PMID:24659592|PMID:24696311|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29942493|PMID:32573669|PMID:32939031|PMID:32997650|PMID:33058840|PMID:9015377|PMID:9502574|PMID:9587066 12284768 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:5419 schizophrenia ISO RGD:732016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12284768 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:630 genetic disease ISO RGD:732016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18391953|PMID:19096086|PMID:25741868|PMID:26467025|PMID:28492532 12284768 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:732016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12284768 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:9007661 Dwarfism ISO RGD:732016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12284778 SURF2 surfeit 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1345081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12284778 SURF2 surfeit 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1345081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12284778 SURF2 surfeit 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1345081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12284778 SURF2 surfeit 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1345081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12284778 SURF2 surfeit 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1345081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12284778 SURF2 surfeit 2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1345081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12284778 SURF2 surfeit 2 gene DOID:3652 Leigh disease ISO RGD:1345081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12284778 SURF2 surfeit 2 gene DOID:630 genetic disease ISO RGD:1345081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284788 MAMSTR MEF2 activating motif and SAP domain containing transcriptional regulator gene DOID:630 genetic disease ISO RGD:1604486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284830 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319963 D RGD:7240710 20200826 OMIM 12284830 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:23664117|PMID:24766538|PMID:25149931|PMID:25741868|PMID:27023906|PMID:28229453|PMID:28492532|PMID:28649518|PMID:29230159|PMID:29443383|PMID:29620724|PMID:29931299|PMID:31674007|PMID:9683594 12284830 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:23664117|PMID:24766538|PMID:25149931|PMID:25741868|PMID:26477546|PMID:27023906|PMID:28229453|PMID:28492532|PMID:28649518|PMID:29230159|PMID:29443383|PMID:29620724|PMID:29931299|PMID:31614862|PMID:31674007|PMID:32381727|PMID:33631843|PMID:9683594 12284830 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1319963 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12284830 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12284830 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:0080738 Ehlers-Danlos syndrome spondylodysplastic type 1 ISO RGD:1319963 D RGD:9068941 20200903 CTD CTD Direct Evidence: marker/mechanism 12284830 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12284830 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12284830 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1319963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12284830 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:0111934 immunodeficiency 38 ISO RGD:1319963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12284830 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:0111935 immunodeficiency 16 ISO RGD:1319963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12284830 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 ISO RGD:1319963 D RGD:7240710 20190501 OMIM 12284830 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures PMID:23664117|PMID:23664118|PMID:24766538|PMID:25741868|PMID:27023906|PMID:28492532|PMID:29620724 12284830 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:0112280 spondyloepiphyseal dysplasia ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia PMID:24033266 12284830 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:630 genetic disease ISO RGD:1319963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12284830 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:9000730 Al-Gazali Syndrome ISO RGD:1319963 D RGD:7240710 20221116 OMIM 12284830 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:9000730 Al-Gazali Syndrome ISO RGD:1319963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Al-Gazali syndrome PMID:10319196|PMID:25149931|PMID:25741868|PMID:28492532|PMID:29443383|PMID:29931299 12284830 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12284830 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12284830 B3GALT6 beta-1,3-galactosyltransferase 6 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1319963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12284838 OR1S1P olfactory receptor family 1 subfamily S member 1, pseudogene gene DOID:10283 prostate cancer ISO RGD:1344670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12284838 OR1S1P olfactory receptor family 1 subfamily S member 1, pseudogene gene DOID:1059 intellectual disability ISO RGD:1344670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12284838 OR1S1P olfactory receptor family 1 subfamily S member 1, pseudogene gene DOID:630 genetic disease ISO RGD:1344670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284847 NCKAP5L NCK associated protein 5 like gene DOID:630 genetic disease ISO RGD:1605652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284910 TFAP2B transcription factor AP-2 beta gene DOID:0060563 Char syndrome ISO RGD:1314875 D RGD:7240710 20180130 OMIM 12284910 TFAP2B transcription factor AP-2 beta gene DOID:0060563 Char syndrome ISO RGD:1314875 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Char syndrome PMID:10368122|PMID:10802654|PMID:10955477|PMID:11505339|PMID:15684060|PMID:2010091|PMID:20301285|PMID:21643846|PMID:24507797|PMID:25741868|PMID:29555671|PMID:31012281|PMID:31292255|PMID:7645594|PMID:8326495 12284910 TFAP2B transcription factor AP-2 beta gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1314875 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction PMID:25741868 12284910 TFAP2B transcription factor AP-2 beta gene DOID:13550 angle-closure glaucoma ISO RGD:1314876 D RGD:9068941 20220825 MouseDO 12284910 TFAP2B transcription factor AP-2 beta gene DOID:13832 patent ductus arteriosus ISO RGD:1314875 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10802654|PMID:19336370 12284910 TFAP2B transcription factor AP-2 beta gene DOID:13832 patent ductus arteriosus ISO RGD:1314876 D RGD:9068941 20220825 MouseDO OMIM:607411 12284910 TFAP2B transcription factor AP-2 beta gene DOID:13832 patent ductus arteriosus susceptibility ISO RGD:1314875 D RGD:9068941 20200609 RGD Char Syndrome, OMIM:169100;DNA:missense mutations:p.A264D, p.R289C PMID:10802654|REF_RGD_ID:1601543 12284910 TFAP2B transcription factor AP-2 beta gene DOID:630 genetic disease ISO RGD:1314875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15684060|PMID:28492532|PMID:31292255 12284910 TFAP2B transcription factor AP-2 beta gene DOID:9003133 Hypertelorism ISO RGD:1314875 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:10802654|PMID:11505339|PMID:2010091|PMID:25741868 12284910 TFAP2B transcription factor AP-2 beta gene DOID:9003602 Patent Ductus Arteriosus 2 ISO RGD:1314875 D RGD:7240710 20190315 OMIM 12284910 TFAP2B transcription factor AP-2 beta gene DOID:9003602 Patent Ductus Arteriosus 2 ISO RGD:1314875 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Patent ductus arteriosus 2 PMID:15684060|PMID:18752453|PMID:20301285|PMID:21643846 12284910 TFAP2B transcription factor AP-2 beta gene DOID:9004795 Congenital Hand Deformities ISO RGD:1314875 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10802654 12284910 TFAP2B transcription factor AP-2 beta gene DOID:9007633 Body Weight ISO RGD:1314875 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219 12284910 TFAP2B transcription factor AP-2 beta gene DOID:9007692 Insulin Resistance ISO RGD:1314875 D RGD:9068941 20200609 RGD PMID:16373417|REF_RGD_ID:1601544 12284910 TFAP2B transcription factor AP-2 beta gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1314875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:31292255 12284910 TFAP2B transcription factor AP-2 beta gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1314875 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10802654 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:0001816 angiosarcoma ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10930038 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:0050469 Costello syndrome ISO RGD:730881 D RGD:7240710 20180130 OMIM 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:0050469 Costello syndrome ISO RGD:730881 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Costello syndrome | ClinVar Annotator: match by term: FCS syndrome PMID:10716188|PMID:11150980|PMID:12835555|PMID:1362901|PMID:15491620|PMID:15843272|PMID:16155195|PMID:16170316|PMID:16199547|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16474405|PMID:16478791|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16921267|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17576681|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19995790|PMID:20112233|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20949621|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21779495|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22256804|PMID:22317973|PMID:22318994|PMID:22420426|PMID:22488832|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23321623|PMID:23335589|PMID:23406027|PMID:23412389|PMID:23429430|PMID:23487764|PMID:23548900|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24259709|PMID:24390138|PMID:24728327|PMID:24803665|PMID:25070542|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25668678|PMID:25695684|PMID:25741868|PMID:25742471|PMID:25815234|PMID:25914166|PMID:26001911|PMID:26467025|PMID:26467218|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26633542|PMID:2674130|PMID:26778095|PMID:26806338|PMID:26888048|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27468687|PMID:27589201|PMID:28002430|PMID:28027064|PMID:28139825|PMID:28179458|PMID:28328122|PMID:28371260|PMID:28390077|PMID:28489335|PMID:28492532|PMID:29493581|PMID:29684080|PMID:2999610|PMID:3004741|PMID:30055033|PMID:30138938|PMID:3018526|PMID:30732632|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32313153|PMID:32371413|PMID:3283542|PMID:3304147|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6287572|PMID:6287573|PMID:6288698|PMID:6330729|PMID:7177195|PMID:8605880|PMID:8626650|PMID:8960317|PMID:9536098 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:0050729 neutral lipid storage disease ISO RGD:730881 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:0050868 hepatocellular adenoma ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8200073 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:0050908 myelodysplastic syndrome ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:0060071 pre-malignant neoplasm ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2675901 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17703371 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:0060581 Noonan syndrome 3 ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:12727991|PMID:1904555|PMID:19855393|PMID:25157968|PMID:26619011|PMID:31775759|PMID:3510078 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:0080202 adenoid cystic carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:0080690 RASopathy ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:0080773 delta beta-thalassemia ISO RGD:730881 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:0111162 epidermal nevus ISO RGD:730881 D RGD:7240710 20180130 OMIM 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:0111162 epidermal nevus ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC | ClinVar Annotator: match by term: Nevus sebaceous PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:0111162 epidermal nevus ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC | ClinVar Annotator: match by term: Nevus sebaceous | ClinVar Annotator: match by term: Woolly hair nevus PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:0111359 large congenital melanocytic nevus ISO RGD:730881 D RGD:7240710 20180130 OMIM 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:0111359 large congenital melanocytic nevus ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:730881 D RGD:7240710 20180130 OMIM 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Linear nevus sebaceous | ClinVar Annotator: match by term: Linear nevus sebaceous syndrome | ClinVar Annotator: match by term: Organoid nevus phakomatosis PMID:12835555|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:0111969 immunodeficiency 39 ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:1040 chronic lymphocytic leukemia ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:12835555|PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19773371|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21850009|PMID:22256804|PMID:22499344|PMID:22683711|PMID:22726224|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27444071|PMID:28492532|PMID:29493581|PMID:31775759 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:1059 intellectual disability ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:10652 Alzheimer's disease ISO RGD:730881 D RGD:9068941 20200609 RGD protein:increased expression:brain, neuron (human) PMID:10661494|REF_RGD_ID:10412306 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:10933 obsessive-compulsive disorder ISO RGD:730881 D RGD:9068941 20200609 RGD DNA:tandem repeat polymorphism:3' end: PMID:8832771|REF_RGD_ID:12738360 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:11054 urinary bladder cancer ISO RGD:730881 D RGD:7240710 20180130 OMIM 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:11054 urinary bladder cancer ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:31394527|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:730881 D RGD:9068941 20200609 RGD PMID:19762144|REF_RGD_ID:2314833 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:1107 esophageal carcinoma ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:1107 esophageal carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:12849 autistic disorder ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8098541 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:12849 autistic disorder ISO RGD:730881 D RGD:9068941 20200609 RGD PMID:8098541|REF_RGD_ID:1358733 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:14566 disease of cellular proliferation ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:1904555|PMID:19213030|PMID:19255327|PMID:19773371|PMID:21438134|PMID:21495179|PMID:21850009|PMID:23093928|PMID:23406027|PMID:23429430|PMID:24006476|PMID:24033266|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29493581|PMID:3510078 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:1749 squamous cell carcinoma ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24224046|PMID:25125259 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:1749 squamous cell carcinoma ISO RGD:730881 D RGD:9068941 20200609 RGD associated with Xeroderma Pigmentosum;missense mutations:cds:pG12V, pQ61H (human) PMID:8453633|REF_RGD_ID:10412316 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:1909 melanoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:2048 autoimmune hepatitis ISO RGD:730881 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:9195373|REF_RGD_ID:14694814 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:2394 ovarian cancer ISO RGD:730881 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:2526 prostate adenocarcinoma ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate | ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:2526 prostate adenocarcinoma ISO RGD:730881 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23429430|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:2526 prostate adenocarcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate | ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:2615 papilloma ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8330346 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:2671 transitional cell carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:730881 D RGD:9068941 20200609 RGD DNA:snps:cds: (human) PMID:8960147|REF_RGD_ID:13781876 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:730881 D RGD:9068941 20200609 RGD protein:increased expression:endometrial stroma, cytoplasm (human) PMID:9641239|REF_RGD_ID:13441555 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:305 carcinoma ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8185828 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:3068 glioblastoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:3068 glioblastoma severity ISO RGD:730881 D RGD:9068941 20200609 RGD PMID:19179066|REF_RGD_ID:13702872 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:3069 malignant astrocytoma ISO RGD:10730 D RGD:9068941 20220825 MouseDO 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:3070 high grade glioma ISO RGD:10730 D RGD:9068941 20220825 MouseDO OMIM:137800 | OMIM:607248 | OMIM:613028 | OMIM:613029 | OMIM:613030 | OMIM:613031 | OMIM:613032 | OMIM:613033 | OMIM:616568 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:3070 high grade glioma ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:3165 skin benign neoplasm ISO RGD:730881 D RGD:9068941 20200609 RGD associated with Nevus, Sebaceous of Jadassohn;DNA:mutation:cds:c.37G>C(p.G13R)(human) PMID:22683711|REF_RGD_ID:11098548 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:3247 rhabdomyosarcoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22683711|PMID:23093928|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:3275 thymoma ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thymoma PMID:20859122|PMID:24224811|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27283355|PMID:31775759 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:3490 Noonan syndrome ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19773371|PMID:21438134|PMID:21495179|PMID:21850009|PMID:23093928|PMID:23406027|PMID:23429430|PMID:24033266|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26580448|PMID:26619011|PMID:28492532|PMID:29493581 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:3571 liver cancer ISO RGD:10730 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.Q61L, p.Q61K, p.Q61R (mouse) PMID:9142214|REF_RGD_ID:14688053 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:363 uterine cancer ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:3717 gastric adenocarcinoma ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:3717 gastric adenocarcinoma ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:3717 gastric adenocarcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:3907 lung squamous cell carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:12835555|PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:1904555|PMID:19213030|PMID:19255327|PMID:19773371|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21850009|PMID:22256804|PMID:22499344|PMID:22683711|PMID:22726224|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27444071|PMID:28492532|PMID:29493581|PMID:31775759|PMID:3510078 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:3908 lung non-small cell carcinoma ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:10716188|PMID:21779495|PMID:24033266|PMID:25741868|PMID:2674130|PMID:28492532|PMID:29493581|PMID:3004741|PMID:3283542|PMID:3304147|PMID:6287572|PMID:6287573|PMID:6288698 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:730881 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892|PMID:3510078 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:730881 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:4007 bladder carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Urinary bladder carcinoma PMID:16170316|PMID:16372351|PMID:16443854|PMID:16835863|PMID:17601930|PMID:18039947|PMID:18042262|PMID:19382114|PMID:21850009|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23429430|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28027064|PMID:28492532|PMID:31394527 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:4074 pancreatic adenocarcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:4440 seminoma ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19855393 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:4440 seminoma ISO RGD:730881 D RGD:9068941 20200609 RGD DNA:mutations: :multiple (human) PMID:19855393|REF_RGD_ID:2314832 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:4465 papillary renal cell carcinoma ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:4465 papillary renal cell carcinoma ISO RGD:730881 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:4465 papillary renal cell carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:5082 liver cirrhosis ISO RGD:730881 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:7535324|REF_RGD_ID:14694815 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730881 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730881 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:5834 spermatocytoma ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatocytic seminoma PMID:12727991|PMID:19855393|PMID:25157968|PMID:31775759 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:591 phobic disorder ISO RGD:730881 D RGD:9068941 20200609 RGD DNA:tandem repeat polymorphism:3' end: PMID:8832771|REF_RGD_ID:12738360 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:6171 uterine carcinosarcoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:630 genetic disease ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17576681|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22683711|PMID:23093928|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24259709|PMID:24803665|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:8605880|PMID:9536098 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:6420 pulmonary valve stenosis ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:28492532 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:6536 plasma cell neoplasm ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma ISO RGD:730881 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma treatment ISO RGD:730881 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:10791191|REF_RGD_ID:14688055 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:686 liver carcinoma ISO RGD:2827 D RGD:9068941 20200609 RGD DNA:hypomethylation PMID:3345576|REF_RGD_ID:14694848 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:7608 parathyroid adenoma ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Parathyroid adenoma PMID:25741868|PMID:35738466 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:769 neuroblastoma ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814359|PMID:26121086 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:8923 skin melanoma ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892|PMID:3510078 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:8923 skin melanoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:8947 diabetic retinopathy ISO RGD:2827 D RGD:9068941 20200609 RGD PMID:14988264|REF_RGD_ID:1358731 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9000217 Stomach Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11397402|PMID:26558449 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9000294 Trichilemmoma ISO RGD:730881 D RGD:9068941 20200609 RGD associated with Nevus sebaceous; DNA:mutation:exon:c.37G>C (p.G13R)(human) PMID:24890286|REF_RGD_ID:12738400 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8185828 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9000918 Disease Progression ISO RGD:730881 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:12082015|PMID:32621833 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:25741868|PMID:35738466 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20118494|PMID:21147764|PMID:27517622|PMID:7955063 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9002170 Experimental Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11552296|PMID:26558449|PMID:3433577 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:12835555|PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19773371|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21850009|PMID:22256804|PMID:22499344|PMID:22683711|PMID:22726224|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27444071|PMID:28492532|PMID:29493581|PMID:31775759 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9002304 Prostatic Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9002650 Sebaceous Nevus Syndrome and Hemimegalencephaly ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly PMID:12835555|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9002762 Ovarian Neoplasms onset ISO RGD:730881 D RGD:9068941 20200609 RGD protein:increased expression:endometrial stroma (human) PMID:9641239|REF_RGD_ID:13441555 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9002801 Recurrence ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9003196 Penile Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18355852 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salivary gland neoplasm PMID:17384584|PMID:19255327|PMID:19773371|PMID:23406027|PMID:24006476|PMID:25157968|PMID:25695684|PMID:25741868 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9003571 Paraproteinemias ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9004464 Skin Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15958052|PMID:18758463|PMID:24898257|PMID:26558449|PMID:8330346|PMID:8508502|PMID:9766437 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9004547 Thyroid Neoplasms ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16478791|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28489335|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:3018526|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23877152 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:730881 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9005120 Pigmented Nevus ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PIGMENTED MOLES PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9005172 Lung Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10779650|PMID:11307925|PMID:11552296|PMID:12765245|PMID:15902970 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nasopharyngeal Neoplasms PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2827 D RGD:9068941 20200609 RGD DNA:mutation: :p.G12E (rat) PMID:19652463|REF_RGD_ID:2314834 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11376698|PMID:8185828 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9005343 Splenic Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26558449 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2827 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina blood vessel PMID:18514235|REF_RGD_ID:2314841 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9005820 Congenital Myopathy with Excess of Muscle Spindles ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with excess of muscle spindles PMID:11150980|PMID:1362901|PMID:15843272|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17384584|PMID:17412879|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19255327|PMID:19371735|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20979192|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:23406027|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25070542|PMID:25157968|PMID:25668678|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26001911|PMID:26467025|PMID:26619011|PMID:26778095|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8626650|PMID:8960317 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9005873 Tongue Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20043093 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9005873 Tongue Neoplasms susceptibility ISO RGD:730881 D RGD:9068941 20200609 RGD PMID:20043093|REF_RGD_ID:12738401 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:730881 D RGD:7240710 20180130 OMIM 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 2 | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:12727991|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:19855393|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:21403836|PMID:24033266|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26580448|PMID:28492532|PMID:9536098 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9007188 Liver Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10874023|PMID:12082015|PMID:12127263|PMID:16410370|PMID:17514646 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9007364 Mouth Neoplasms ISO RGD:2827 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;protein:increased expression:oral region PMID:19283661|REF_RGD_ID:2314840 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9007364 Mouth Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24224046 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9007502 Brain Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12115494|PMID:18245498|PMID:18829283|PMID:22048643|PMID:23877152 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9008192 Neoplastic Processes ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12082015 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9008386 Hydrops Fetalis ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal edema PMID:12835555|PMID:16170316|PMID:16329078|PMID:16443854|PMID:17384584|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18642361|PMID:19255327|PMID:19773371|PMID:20658932|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25741868|PMID:26561417|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27444071|PMID:28371260|PMID:28492532|PMID:31222966|PMID:31775759 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9008443 Colorectal Neoplasms ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16478791|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28371260|PMID:28489335|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:3018526|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9008939 Breast Neoplasms ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:31394527|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:730881 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:730881 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9538 multiple myeloma ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9538 multiple myeloma ISO RGD:730881 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12284930 HRAS HRas proto-oncogene, GTPase gene DOID:9538 multiple myeloma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 12284941 NABP2 nucleic acid binding protein 2 gene DOID:630 genetic disease ISO RGD:1601970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284955 CENPA centromere protein A gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1349480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12284955 CENPA centromere protein A gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1349480 D RGD:9068941 20200730 RGD mRNA:increased expression:lung (human) PMID:30008938|REF_RGD_ID:36947379 12284955 CENPA centromere protein A gene DOID:417 autoimmune disease ISO RGD:1349480 D RGD:9068941 20200730 RGD PMID:10759786|REF_RGD_ID:36947376 12284955 CENPA centromere protein A gene DOID:630 genetic disease ISO RGD:1349480 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284955 CENPA centromere protein A gene DOID:684 hepatocellular carcinoma ISO RGD:1349480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12284955 CENPA centromere protein A gene DOID:684 hepatocellular carcinoma ISO RGD:1349480 D RGD:9068941 20200730 RGD protein:increased expression:liver (human) PMID:21956590|REF_RGD_ID:36947377 12284972 FAM98A family with sequence similarity 98 member A gene DOID:630 genetic disease ISO RGD:1603675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284984 RPL36 ribosomal protein L36 gene DOID:2661 myoepithelioma ISO RGD:736673 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12284991 TTC3 tetratricopeptide repeat domain 3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1318550 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12284991 TTC3 tetratricopeptide repeat domain 3 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1318550 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12284991 TTC3 tetratricopeptide repeat domain 3 gene DOID:1826 epilepsy ISO RGD:1318550 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12284991 TTC3 tetratricopeptide repeat domain 3 gene DOID:630 genetic disease ISO RGD:1318550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12284991 TTC3 tetratricopeptide repeat domain 3 gene DOID:9003713 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis ISO RGD:1318550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corticobasal syndrome PMID:25741868 12285051 GLRX2 glutaredoxin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1317443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12285051 GLRX2 glutaredoxin 2 gene DOID:630 genetic disease ISO RGD:1317443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285051 GLRX2 glutaredoxin 2 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1317443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 12285051 GLRX2 glutaredoxin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12285065 IQGAP1 IQ motif containing GTPase activating protein 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1323573 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12285065 IQGAP1 IQ motif containing GTPase activating protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1323573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12285065 IQGAP1 IQ motif containing GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1323573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285065 IQGAP1 IQ motif containing GTPase activating protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1323573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20977743 12285065 IQGAP1 IQ motif containing GTPase activating protein 1 gene DOID:9000352 Vascular System Injuries ISO RGD:1311884 D RGD:9068941 20200609 RGD PMID:15217908|REF_RGD_ID:11049588 12285065 IQGAP1 IQ motif containing GTPase activating protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12285065 IQGAP1 IQ motif containing GTPase activating protein 1 gene DOID:9002514 Neointima ISO RGD:1323574 D RGD:9068941 20200609 RGD associated with Vascular System Injuries PMID:23657573|REF_RGD_ID:11049552 12285065 IQGAP1 IQ motif containing GTPase activating protein 1 gene DOID:9004657 Weight Gain ISO RGD:1323573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12285065 IQGAP1 IQ motif containing GTPase activating protein 1 gene DOID:9007502 Brain Neoplasms ISO RGD:1323573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 12285065 IQGAP1 IQ motif containing GTPase activating protein 1 gene DOID:9256 colorectal cancer ISO RGD:1323573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12285107 COPS6 COP9 signalosome subunit 6 gene DOID:10283 prostate cancer ISO RGD:1320520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12285107 COPS6 COP9 signalosome subunit 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12285107 COPS6 COP9 signalosome subunit 6 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1320520 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12285107 COPS6 COP9 signalosome subunit 6 gene DOID:630 genetic disease ISO RGD:1320520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285121 PYM1 PYM homolog 1, exon junction complex associated factor gene DOID:630 genetic disease ISO RGD:1601845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285134 KLHL32 kelch like family member 32 gene DOID:630 genetic disease ISO RGD:1321228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285165 ROR2 receptor tyrosine kinase like orphan receptor 2 gene DOID:0050581 brachydactyly ISO RGD:1313207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly 12285165 ROR2 receptor tyrosine kinase like orphan receptor 2 gene DOID:0060764 autosomal recessive Robinow syndrome ISO RGD:1313207 D RGD:7240710 20180130 OMIM 12285165 ROR2 receptor tyrosine kinase like orphan receptor 2 gene DOID:0060764 autosomal recessive Robinow syndrome ISO RGD:1313207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive Robinow syndrome | ClinVar Annotator: match by term: COVESDEM SYNDROME | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly PMID:10932186|PMID:10932187|PMID:10986040|PMID:15952209|PMID:16049033|PMID:17665217|PMID:18252861|PMID:18414213|PMID:18831060|PMID:19640924|PMID:25741868|PMID:26284319|PMID:28492532 12285165 ROR2 receptor tyrosine kinase like orphan receptor 2 gene DOID:0060766 autosomal dominant Robinow syndrome 1 ISO RGD:1313207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 PMID:25741868|PMID:28492532 12285165 ROR2 receptor tyrosine kinase like orphan receptor 2 gene DOID:0110002 3-methylglutaconic aciduria type 1 ISO RGD:1313207 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 PMID:28492532 12285165 ROR2 receptor tyrosine kinase like orphan receptor 2 gene DOID:0110969 brachydactyly type B1 ISO RGD:1313207 D RGD:7240710 20180130 OMIM 12285165 ROR2 receptor tyrosine kinase like orphan receptor 2 gene DOID:0110969 brachydactyly type B1 ISO RGD:1313207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly type B1 PMID:10700182|PMID:10932186|PMID:10986040|PMID:12919145|PMID:16199547|PMID:17101003|PMID:17576681|PMID:17665217|PMID:18252861|PMID:18414213|PMID:19461659|PMID:19533773|PMID:25741868|PMID:26284319|PMID:28492532|PMID:33937263|PMID:641944|PMID:9536098 12285165 ROR2 receptor tyrosine kinase like orphan receptor 2 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1313207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28492532|PMID:31680123 12285165 ROR2 receptor tyrosine kinase like orphan receptor 2 gene DOID:630 genetic disease ISO RGD:1313207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18252861|PMID:25741868|PMID:26284319|PMID:28492532|PMID:9536098 12285165 ROR2 receptor tyrosine kinase like orphan receptor 2 gene DOID:674 cleft palate susceptibility ISO RGD:1313207 D RGD:9068941 20200609 RGD DNA:SNPs: :rs7858435, rs10820914, and rs3905385(human) PMID:22490406|REF_RGD_ID:11535950 12285165 ROR2 receptor tyrosine kinase like orphan receptor 2 gene DOID:9007661 Dwarfism ISO RGD:1313207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:28492532|PMID:31680123|PMID:33937263 12285174 BSN bassoon presynaptic cytomatrix protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12285174 BSN bassoon presynaptic cytomatrix protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12285174 BSN bassoon presynaptic cytomatrix protein gene DOID:114 heart disease ISO RGD:735544 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 12285174 BSN bassoon presynaptic cytomatrix protein gene DOID:1826 epilepsy ISO RGD:735544 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12285174 BSN bassoon presynaptic cytomatrix protein gene DOID:630 genetic disease ISO RGD:735544 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12285174 BSN bassoon presynaptic cytomatrix protein gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:735544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12285195 FSHB follicle stimulating hormone subunit beta gene DOID:0090088 hypogonadotropic hypogonadism 24 without anosmia ISO RGD:69084 D RGD:7240710 20180130 OMIM 12285195 FSHB follicle stimulating hormone subunit beta gene DOID:0090088 hypogonadotropic hypogonadism 24 without anosmia ISO RGD:69084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 24 without anosmia PMID:12161499|PMID:20488225|PMID:22791757|PMID:25052309|PMID:25741868|PMID:28392474|PMID:28492532|PMID:32242295|PMID:4344039|PMID:8220432|PMID:9271483|PMID:9280841|PMID:9624193|PMID:9806482 12285195 FSHB follicle stimulating hormone subunit beta gene DOID:1059 intellectual disability ISO RGD:69084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12285195 FSHB follicle stimulating hormone subunit beta gene DOID:12336 male infertility ISO RGD:69084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:387166 12285195 FSHB follicle stimulating hormone subunit beta gene DOID:13938 amenorrhea ISO RGD:69084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8220432 12285195 FSHB follicle stimulating hormone subunit beta gene DOID:13938 amenorrhea ISO RGD:69084 D RGD:9068941 20200609 RGD follicle-stimulating hormone deficiency,OMIM:229070;DNA:frameshift PMID:8220432|REF_RGD_ID:1601221 12285195 FSHB follicle stimulating hormone subunit beta gene DOID:14228 oligospermia ISO RGD:69084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4607150 12285195 FSHB follicle stimulating hormone subunit beta gene DOID:1574 alcohol use disorder ISO RGD:69084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8590623 12285195 FSHB follicle stimulating hormone subunit beta gene DOID:1924 hypogonadism ISO RGD:69084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18449926|PMID:24739304|PMID:8263139 12285195 FSHB follicle stimulating hormone subunit beta gene DOID:2945 severe acute respiratory syndrome ISO RGD:69084 D RGD:9068941 20200609 RGD protein:increased expression:adenohypophysis (human) PMID:20651845|REF_RGD_ID:28711759 12285195 FSHB follicle stimulating hormone subunit beta gene DOID:3522 lateral medullary syndrome ISO RGD:69084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17344003 12285195 FSHB follicle stimulating hormone subunit beta gene DOID:630 genetic disease ISO RGD:69084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285195 FSHB follicle stimulating hormone subunit beta gene DOID:9000972 Fever ISO RGD:69084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 12285195 FSHB follicle stimulating hormone subunit beta gene DOID:9007456 Female Infertility ISO RGD:69084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8220432 12285202 CHST2 carbohydrate sulfotransferase 2 gene DOID:630 genetic disease ISO RGD:1315916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285207 ACAP2 ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 gene DOID:630 genetic disease ISO RGD:1347120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285237 MYOG myogenin gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:736712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12285237 MYOG myogenin gene DOID:1540 parathyroid carcinoma ISO RGD:736712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12285237 MYOG myogenin gene DOID:630 genetic disease ISO RGD:736712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285237 MYOG myogenin gene DOID:9002457 Experimental Arthritis treatment ISO RGD:620432 D RGD:9068941 20200609 RGD PMID:23781298|REF_RGD_ID:9686078 12285237 MYOG myogenin gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736712 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12285237 MYOG myogenin gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:620432 D RGD:9068941 20200609 RGD PMID:1312030|REF_RGD_ID:9686077 12285237 MYOG myogenin gene DOID:9008444 Skeletal Muscle Injuries ISO RGD:620432 D RGD:9068941 20200609 RGD mRNA:increased expression:diaphragm PMID:15738284|REF_RGD_ID:9686134 12285237 MYOG myogenin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12285237 MYOG myogenin gene DOID:9970 obesity ISO RGD:620432 D RGD:9068941 20200609 RGD mRNA:decreased expression:plantaris PMID:18508911|REF_RGD_ID:2313320 12285246 EGFL7 EGF like domain multiple 7 gene DOID:0050777 Joubert syndrome ISO RGD:1602888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12285246 EGFL7 EGF like domain multiple 7 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1602888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12285246 EGFL7 EGF like domain multiple 7 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1602888 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12285246 EGFL7 EGF like domain multiple 7 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1602888 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12285246 EGFL7 EGF like domain multiple 7 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1602888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12285246 EGFL7 EGF like domain multiple 7 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1602888 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12285246 EGFL7 EGF like domain multiple 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1602888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12285246 EGFL7 EGF like domain multiple 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1602888 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12285246 EGFL7 EGF like domain multiple 7 gene DOID:0081097 Rafiq syndrome ISO RGD:1602888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12285246 EGFL7 EGF like domain multiple 7 gene DOID:1826 epilepsy ISO RGD:1602888 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12285246 EGFL7 EGF like domain multiple 7 gene DOID:3652 Leigh disease ISO RGD:1602888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12285246 EGFL7 EGF like domain multiple 7 gene DOID:630 genetic disease ISO RGD:1602888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285246 EGFL7 EGF like domain multiple 7 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1602888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12285265 USP2 ubiquitin specific peptidase 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:731337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12285265 USP2 ubiquitin specific peptidase 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:731337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12285265 USP2 ubiquitin specific peptidase 2 gene DOID:0080690 RASopathy ISO RGD:731337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12285265 USP2 ubiquitin specific peptidase 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:731337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12285265 USP2 ubiquitin specific peptidase 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:731337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12285265 USP2 ubiquitin specific peptidase 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:731337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12285265 USP2 ubiquitin specific peptidase 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:731337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12285265 USP2 ubiquitin specific peptidase 2 gene DOID:5419 schizophrenia ISO RGD:731337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12285265 USP2 ubiquitin specific peptidase 2 gene DOID:630 genetic disease ISO RGD:731337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285265 USP2 ubiquitin specific peptidase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:731337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 12285265 USP2 ubiquitin specific peptidase 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:731337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12285265 USP2 ubiquitin specific peptidase 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:731337 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Facial hypotonia 12285265 USP2 ubiquitin specific peptidase 2 gene DOID:9007661 Dwarfism ISO RGD:731337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12285314 ENOX1 ecto-NOX disulfide-thiol exchanger 1 gene DOID:10283 prostate cancer ISO RGD:1605985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12285314 ENOX1 ecto-NOX disulfide-thiol exchanger 1 gene DOID:630 genetic disease ISO RGD:1605985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285354 POFUT1 protein O-fucosyltransferase 1 gene DOID:0060256 Dowling-Degos disease ISO RGD:1348314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12285354 POFUT1 protein O-fucosyltransferase 1 gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1348314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency PMID:28492532 12285354 POFUT1 protein O-fucosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1348314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285354 POFUT1 protein O-fucosyltransferase 1 gene DOID:9006393 Dowling-Degos Disease 2 ISO RGD:1348314 D RGD:7240710 20180130 OMIM 12285354 POFUT1 protein O-fucosyltransferase 1 gene DOID:9006393 Dowling-Degos Disease 2 ISO RGD:1348314 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dowling-Degos disease 2 PMID:23684010|PMID:25229252|PMID:25741868|PMID:28492532|PMID:31566882 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:0050581 brachydactyly ISO RGD:732217 D RGD:9068941 20200609 RGD associated with Diastrophic Dysplasia;DNA:mutations:css:p.R279W, p.R178X, p.N425D,c.727-1G>C (human) PMID:21155763|REF_RGD_ID:11072411 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:0050648 atelosteogenesis ISO RGD:732217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atelosteogenesis 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:0060576 3MC syndrome 2 ISO RGD:732217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: OSA syndrome PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11565064|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:16642506|PMID:18708426|PMID:18925670|PMID:19344236|PMID:20219950|PMID:20301483|PMID:20301493|PMID:20301524|PMID:20525296|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21922596|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29024831|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8931695|PMID:9342225 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:0070300 multiple epiphyseal dysplasia 4 ISO RGD:732217 D RGD:7240710 20180130 OMIM 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:0070300 multiple epiphyseal dysplasia 4 ISO RGD:732217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellae | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia with double-layered patella PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:11727031|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:15720248|PMID:16642506|PMID:17393463|PMID:18553123|PMID:18708426|PMID:18925670|PMID:19344236|PMID:20219950|PMID:20301483|PMID:20301493|PMID:20301524|PMID:20525296|PMID:20592910|PMID:20981092|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:26077908|PMID:27065010|PMID:28492532|PMID:29024831|PMID:31880411|PMID:34064542|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8723100|PMID:8931695|PMID:9342225 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:0080006 bone development disease ISO RGD:732217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925670 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:0080043 achondrogenesis ISO RGD:732217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Achondrogenesis 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:0080055 achondrogenesis type IB ISO RGD:732217 D RGD:7240710 20180130 OMIM 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:0080055 achondrogenesis type IB ISO RGD:732217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Achondrogenesis Fraccaro type | ClinVar Annotator: match by term: Achondrogenesis, type IB PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:11727031|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:15720248|PMID:16642506|PMID:17393463|PMID:17576681|PMID:18708426|PMID:18925670|PMID:19344236|PMID:19763152|PMID:20219950|PMID:20301483|PMID:20301493|PMID:20301524|PMID:20307669|PMID:20525296|PMID:20592910|PMID:20981092|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:22406018|PMID:23369989|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:26077908|PMID:27065010|PMID:28492532|PMID:29024831|PMID:30423444|PMID:31880411|PMID:32295296|PMID:34064542|PMID:4644462|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8723100|PMID:8931695|PMID:9342225|PMID:9536098 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732217 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:14687 diastrophic dysplasia ISO RGD:732217 D RGD:7240710 20180130 OMIM 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:14687 diastrophic dysplasia ISO RGD:732217 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Diastrophic dwarfism | ClinVar Annotator: match by term: Diastrophic dysplasia | ClinVar Annotator: match by term: Sulfate transporter-related osteochondrodysplasia PMID:10465113|PMID:10466420|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:11727031|PMID:12220459|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:15720248|PMID:16642506|PMID:17393463|PMID:18708426|PMID:18925670|PMID:19344236|PMID:20219950|PMID:20301483|PMID:20301493|PMID:20301524|PMID:20525296|PMID:20592910|PMID:20981092|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:23369989|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:26752647|PMID:27065010|PMID:27848944|PMID:28492532|PMID:28941661|PMID:29024831|PMID:30423444|PMID:31880411|PMID:34064542|PMID:4644462|PMID:702237|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8702490|PMID:8723083|PMID:8723100|PMID:8931695|PMID:9342225 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:2256 osteochondrodysplasia ISO RGD:732217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteochondrodysplasia PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:16642506|PMID:17393463|PMID:18708426|PMID:18925670|PMID:19344236|PMID:20219950|PMID:20301524|PMID:20525296|PMID:20592910|PMID:20981092|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29024831|PMID:31880411|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8723100|PMID:8931695|PMID:9342225 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:2256 osteochondrodysplasia ISO RGD:732217 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Osteochondrodysplasia PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:16642506|PMID:17393463|PMID:18708426|PMID:18925670|PMID:19344236|PMID:20219950|PMID:20301524|PMID:20525296|PMID:20981092|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29024831|PMID:31880411|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8723100|PMID:8931695|PMID:9342225 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:2256 osteochondrodysplasia ISO RGD:732217 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Osteochondrodysplasia PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:16642506|PMID:17393463|PMID:18708426|PMID:18925670|PMID:19344236|PMID:20219950|PMID:20301524|PMID:20525296|PMID:20981092|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29024831|PMID:31880411|PMID:34064542|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8723100|PMID:8931695|PMID:9342225 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:2300 spondylolysis ISO RGD:732217 D RGD:9068941 20200609 RGD DNA:mutations:cds:c.2286A>T(p.D673V), c.1922A>G(p.H641R),g.18654T>C(human) PMID:26077908|REF_RGD_ID:13208868 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:2742 auditory system disease ISO RGD:732217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925670 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:630 genetic disease ISO RGD:732217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11565064|PMID:12525546|PMID:15294877|PMID:15316973|PMID:16642506|PMID:20219950|PMID:20301483|PMID:20301493|PMID:20301524|PMID:21077202|PMID:21155763|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29024831|PMID:8571951|PMID:8931695|PMID:9342225 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:65 connective tissue disease ISO RGD:732217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:16642506|PMID:17393463|PMID:18708426|PMID:19344236|PMID:20219950|PMID:20301483|PMID:20301493|PMID:20301524|PMID:20525296|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29024831|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8723100|PMID:8931695|PMID:9342225 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:676 juvenile rheumatoid arthritis susceptibility ISO RGD:732217 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:17393463|REF_RGD_ID:13208931 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:9001435 Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant ISO RGD:732217 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Diastrophic dysplasia, broad bone-platyspondylic variant PMID:10466420|PMID:12220459|PMID:20301524|PMID:702237|PMID:8723083 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:9002331 Knee Osteoarthritis susceptibility ISO RGD:732217 D RGD:9068941 20200609 RGD DNA:deletion:promoter:-716_-713del4A(human) PMID:11558903|REF_RGD_ID:13208866 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:9003358 Kyphosis ISO RGD:732217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925670 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:9006836 Contracture ISO RGD:732217 D RGD:9068941 20200609 RGD associated with Diastrophic Dysplasia;DNA:mutations:css:p.R279W, p.R178X, p.N425D,c.727-1G>C (human) PMID:21155763|REF_RGD_ID:11072411 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:9006897 Atelosteogenesis Type 2 ISO RGD:732217 D RGD:7240710 20180130 OMIM 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:9006897 Atelosteogenesis Type 2 ISO RGD:732217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Atelosteogenesis type 2 | ClinVar Annotator: match by term: Atelosteogenesis type II | ClinVar Annotator: match by term: De la Chapelle dysplasia | ClinVar Annotator: match by term: NEONATAL OSSEOUS DYSPLASIA I | ClinVar Annotator: match by term: Neonatal osseous dysplasia 1 PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:11727031|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:15720248|PMID:16642506|PMID:17393463|PMID:18708426|PMID:18925670|PMID:19344236|PMID:20219950|PMID:20301483|PMID:20301493|PMID:20301524|PMID:20525296|PMID:20592910|PMID:20981092|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29024831|PMID:30423444|PMID:31880411|PMID:34064542|PMID:4644462|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8723100|PMID:8931695|PMID:9342225 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732217 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12285363 SLC26A2 solute carrier family 26 member 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925670 12285371 TRO trophinin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12285371 TRO trophinin gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1605121 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 12285371 TRO trophinin gene DOID:12849 autistic disorder ISO RGD:1605121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12285371 TRO trophinin gene DOID:630 genetic disease ISO RGD:1605121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285402 PLA1A phospholipase A1 member A gene DOID:630 genetic disease ISO RGD:1343434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285426 LOC100687441 secretoglobin family 1D member 2-like gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606365 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12285426 LOC100687441 secretoglobin family 1D member 2-like gene DOID:1059 intellectual disability ISO RGD:1606365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12285426 LOC100687441 secretoglobin family 1D member 2-like gene DOID:630 genetic disease ISO RGD:1606365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285439 TRH thyrotropin releasing hormone gene DOID:0111947 immunodeficiency 21 ISO RGD:69154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12285439 TRH thyrotropin releasing hormone gene DOID:10763 hypertension ISO RGD:3903 D RGD:9068941 20200609 RGD protein:decreased expression:diencephalon PMID:17227965|REF_RGD_ID:1600406 12285439 TRH thyrotropin releasing hormone gene DOID:10763 hypertension ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 12285439 TRH thyrotropin releasing hormone gene DOID:10914 amnestic disorder ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7562510|PMID:7617693|PMID:8405091 12285439 TRH thyrotropin releasing hormone gene DOID:11162 respiratory failure ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1305443|PMID:1833029 12285439 TRH thyrotropin releasing hormone gene DOID:1459 hypothyroidism ISO RGD:3903 D RGD:9068941 20200609 RGD protein:increased expression:hypothalamus, neuron PMID:16926379|REF_RGD_ID:1600414 12285439 TRH thyrotropin releasing hormone gene DOID:2303 stereotypic movement disorder ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8736133 12285439 TRH thyrotropin releasing hormone gene DOID:289 endometriosis ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12285439 TRH thyrotropin releasing hormone gene DOID:630 genetic disease ISO RGD:69154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285439 TRH thyrotropin releasing hormone gene DOID:8927 learning disability ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8405091 12285439 TRH thyrotropin releasing hormone gene DOID:8986 narcolepsy ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2845442 12285439 TRH thyrotropin releasing hormone gene DOID:9000064 Cardiac Arrhythmias ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6813757 12285439 TRH thyrotropin releasing hormone gene DOID:9000495 Tremor ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:103733|PMID:416961 12285439 TRH thyrotropin releasing hormone gene DOID:9000641 Pain ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:6409194 12285439 TRH thyrotropin releasing hormone gene DOID:9002395 Hypothermia ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 12285439 TRH thyrotropin releasing hormone gene DOID:9002554 Tachycardia ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 12285439 TRH thyrotropin releasing hormone gene DOID:9003416 Post-Head Injury Coma ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8690305 12285439 TRH thyrotropin releasing hormone gene DOID:9003805 Catalepsy ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2547386 12285439 TRH thyrotropin releasing hormone gene DOID:9006315 Stupor ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:416961|PMID:8690305 12285439 TRH thyrotropin releasing hormone gene DOID:9006335 Thyrotropin-Releasing Hormone Deficiency ISO RGD:69154 D RGD:7240710 20180130 OMIM 12285439 TRH thyrotropin releasing hormone gene DOID:9006335 Thyrotropin-Releasing Hormone Deficiency ISO RGD:69154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothalamic hypothyroidism PMID:25741868 12285439 TRH thyrotropin releasing hormone gene DOID:9007001 Bradycardia ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:6350720|PMID:6813757 12285439 TRH thyrotropin releasing hormone gene DOID:9007650 Unconsciousness ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:6281507 12285439 TRH thyrotropin releasing hormone gene DOID:9008086 Developmental Disabilities ISO RGD:69154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12285439 TRH thyrotropin releasing hormone gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:69154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 12285439 TRH thyrotropin releasing hormone gene DOID:9119 acute myeloid leukemia ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 12285439 TRH thyrotropin releasing hormone gene DOID:9270 alkaptonuria ISO RGD:69154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12285461 NEXN nexilin F-actin binding protein gene DOID:0050700 cardiomyopathy ISO RGD:1354261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:16199547|PMID:17576681|PMID:19881492|PMID:20970104|PMID:23299917|PMID:24033266|PMID:24503780|PMID:25741868|PMID:25979592|PMID:26383259|PMID:27332903|PMID:27486136|PMID:27532257|PMID:28087566|PMID:28333919|PMID:28492532|PMID:28798025|PMID:29253866|PMID:29961767|PMID:30012837|PMID:30354306|PMID:30403391|PMID:30847666|PMID:31028938|PMID:31514951|PMID:31983221|PMID:32058062|PMID:32814711|PMID:32870709|PMID:33949776|PMID:34363016|PMID:9536098 12285461 NEXN nexilin F-actin binding protein gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1354261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:16199547|PMID:20970104|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:31514951|PMID:32058062|PMID:32814711|PMID:32870709|PMID:33949776 12285461 NEXN nexilin F-actin binding protein gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1354261 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:27486136|PMID:28492532|PMID:28798025 12285461 NEXN nexilin F-actin binding protein gene DOID:0110326 hypertrophic cardiomyopathy 20 ISO RGD:1354261 D RGD:7240710 20180130 OMIM 12285461 NEXN nexilin F-actin binding protein gene DOID:0110326 hypertrophic cardiomyopathy 20 ISO RGD:1354261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 20 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 20 PMID:16199547|PMID:17576681|PMID:19881492|PMID:20970104|PMID:23299917|PMID:23481551|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25741868|PMID:25979592|PMID:26265630|PMID:26383259|PMID:26659360|PMID:27486136|PMID:27532257|PMID:28087566|PMID:28333919|PMID:28492532|PMID:28798025|PMID:29247119|PMID:29253866|PMID:29875424|PMID:29961767|PMID:30354306|PMID:30403391|PMID:30471092|PMID:30847666|PMID:31028938|PMID:31514951|PMID:31983221|PMID:32058062|PMID:32814711|PMID:32870709|PMID:32880476|PMID:33027564|PMID:33500567|PMID:33949776|PMID:34363016|PMID:9536098 12285461 NEXN nexilin F-actin binding protein gene DOID:0110424 dilated cardiomyopathy 1CC ISO RGD:1354261 D RGD:7240710 20180130 OMIM 12285461 NEXN nexilin F-actin binding protein gene DOID:0110424 dilated cardiomyopathy 1CC ISO RGD:1354261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC PMID:16199547|PMID:17576681|PMID:19763152|PMID:19881492|PMID:20307669|PMID:20970104|PMID:22406018|PMID:23299917|PMID:23481551|PMID:24033266|PMID:24503780|PMID:24866383|PMID:25163546|PMID:25640679|PMID:25741868|PMID:25979592|PMID:26265630|PMID:26383259|PMID:26659360|PMID:27066507|PMID:27486136|PMID:27532257|PMID:28087566|PMID:28333919|PMID:28492532|PMID:28704380|PMID:28790153|PMID:28798025|PMID:29247119|PMID:29253866|PMID:29875424|PMID:29961767|PMID:30012837|PMID:30354306|PMID:30403391|PMID:30471092|PMID:30847666|PMID:31028938|PMID:31514951|PMID:31983221|PMID:32058062|PMID:32814711|PMID:32870709|PMID:32880476|PMID:33027564|PMID:33500567|PMID:33949776|PMID:34363016|PMID:9536098 12285461 NEXN nexilin F-actin binding protein gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1354261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868|PMID:28492532 12285461 NEXN nexilin F-actin binding protein gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1354261 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:25741868|PMID:28492532 12285461 NEXN nexilin F-actin binding protein gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1354261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:28492532|PMID:32058062|PMID:32814711|PMID:32870709|PMID:33949776 12285461 NEXN nexilin F-actin binding protein gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1354261 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:19881492|PMID:20970104|PMID:23299917|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26383259|PMID:28492532|PMID:29253866|PMID:29961767|PMID:30847666|PMID:31028938|PMID:34363016 12285461 NEXN nexilin F-actin binding protein gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1354261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19881492|PMID:24033266|PMID:25163546|PMID:25741868|PMID:28492532|PMID:30847666|PMID:32058062|PMID:32814711|PMID:32870709|PMID:32880476|PMID:33949776 12285461 NEXN nexilin F-actin binding protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1354261 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:19881492|PMID:20970104|PMID:23299917|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26383259|PMID:28333919|PMID:28492532|PMID:29253866|PMID:29961767|PMID:30012837|PMID:30354306|PMID:30847666|PMID:31028938|PMID:31333075|PMID:31568572|PMID:31983221|PMID:34363016 12285461 NEXN nexilin F-actin binding protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1354261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:19881492|PMID:20970104|PMID:23299917|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26383259|PMID:27532257|PMID:28333919|PMID:28492532|PMID:29253866|PMID:29961767|PMID:30012837|PMID:30354306|PMID:30847666|PMID:31028938|PMID:31333075|PMID:31568572|PMID:31983221|PMID:34363016 12285461 NEXN nexilin F-actin binding protein gene DOID:2843 long QT syndrome ISO RGD:1354261 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25741868 12285461 NEXN nexilin F-actin binding protein gene DOID:630 genetic disease ISO RGD:1354261 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221|PMID:33500567 12285461 NEXN nexilin F-actin binding protein gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1354261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:34540771 12285461 NEXN nexilin F-actin binding protein gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1354261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:24033266|PMID:28492532 12285461 NEXN nexilin F-actin binding protein gene DOID:9007033 Ventricular Premature Complexes ISO RGD:1354261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:19881492|PMID:24033266|PMID:24503780|PMID:25741868|PMID:25979592|PMID:28492532 12285566 CNGB1 cyclic nucleotide gated channel subunit beta 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:732601 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12285566 CNGB1 cyclic nucleotide gated channel subunit beta 1 gene DOID:0110377 retinitis pigmentosa 49 ISO RGD:732601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 49 PMID:23661369|PMID:24938718|PMID:25741868|PMID:28492532 12285566 CNGB1 cyclic nucleotide gated channel subunit beta 1 gene DOID:0110402 retinitis pigmentosa 45 IAGP D RGD:12801476 20230503 OMIA Progressive retinal atrophy PMID:5816740|PMID:1043555|PMID:2316162|PMID:8171308|PMID:7980378|PMID:7661398|PMID:8731401|PMID:9043826|PMID:9249060|PMID:9266671|PMID:9268598|PMID:9492941|PMID:9745671|PMID:9987920|PMID:10782214|PMID:10895316|PMID:11194724|PMID:12091798|PMID:12224622|PMID:12447165|PMID:12123530|PMID:15932411|PMID:14627956|PMID:15704559|PMID:16334947|PMID:17623091|PMID:18724412|PMID:20447030|PMID:11397244|PMID:23977260|PMID:24015210|PMID:15301763|PMID:26515695|PMID:30904946|PMID:29202463|PMID:33987558|PMID:22819016|PMID:34231238|PMID:17424020|PMID:31464365|PMID:33863806|PMID:37056049|PMID:30050836 12285566 CNGB1 cyclic nucleotide gated channel subunit beta 1 gene DOID:0110402 retinitis pigmentosa 45 ISO RGD:732601 D RGD:7240710 20180130 OMIM 12285566 CNGB1 cyclic nucleotide gated channel subunit beta 1 gene DOID:0110402 retinitis pigmentosa 45 ISO RGD:732601 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 45 PMID:11379879|PMID:15557452|PMID:16199547|PMID:17032466|PMID:17576681|PMID:21147909|PMID:21987686|PMID:23105016|PMID:23484092|PMID:23661369|PMID:24043777|PMID:24339724|PMID:24938718|PMID:25324289|PMID:25412400|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29202463|PMID:29597005|PMID:29800053|PMID:29912909|PMID:30718709|PMID:31054281|PMID:31931872|PMID:31960602|PMID:31980526|PMID:32037395|PMID:33546218|PMID:33847019|PMID:33946315|PMID:9536098 12285566 CNGB1 cyclic nucleotide gated channel subunit beta 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:732601 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12285566 CNGB1 cyclic nucleotide gated channel subunit beta 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732601 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11379879|PMID:15557452|PMID:16199547|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23484092|PMID:23661369|PMID:24043777|PMID:24339724|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29202463|PMID:29912909|PMID:30718709|PMID:30902645|PMID:32037395|PMID:33546218|PMID:9536098 12285566 CNGB1 cyclic nucleotide gated channel subunit beta 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732601 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11379879|PMID:15557452|PMID:16199547|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23661369|PMID:24043777|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29912909|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31570810|PMID:32037395|PMID:32613137|PMID:33546218|PMID:33576794|PMID:9536098 12285566 CNGB1 cyclic nucleotide gated channel subunit beta 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732601 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11379879|PMID:15557452|PMID:16199547|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23661369|PMID:24043777|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29912909|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31570810|PMID:32037395|PMID:32613137|PMID:33546218|PMID:33576794|PMID:33847019|PMID:33946315|PMID:9536098 12285566 CNGB1 cyclic nucleotide gated channel subunit beta 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:11379879|PMID:15557452|PMID:16199547|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23484092|PMID:23661369|PMID:24043777|PMID:24339724|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29202463|PMID:29912909|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31570810|PMID:32037395|PMID:32613137|PMID:33546218|PMID:33576794|PMID:33847019|PMID:33946315|PMID:9536098 12285566 CNGB1 cyclic nucleotide gated channel subunit beta 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732601 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11379879|PMID:15557452|PMID:16199547|PMID:17032466|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23484092|PMID:23661369|PMID:24043777|PMID:24339724|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29202463|PMID:29597005|PMID:29912909|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31570810|PMID:31931872|PMID:32037395|PMID:32613137|PMID:33546218|PMID:33576794|PMID:33847019|PMID:33946315|PMID:9536098 12285566 CNGB1 cyclic nucleotide gated channel subunit beta 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12285566 CNGB1 cyclic nucleotide gated channel subunit beta 1 gene DOID:630 genetic disease ISO RGD:732601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12285566 CNGB1 cyclic nucleotide gated channel subunit beta 1 gene DOID:8501 fundus dystrophy ISO RGD:732601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15557452|PMID:16199547|PMID:21147909|PMID:21987686|PMID:23105016|PMID:24043777|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29202463|PMID:29912909|PMID:30718709|PMID:31456290|PMID:33465333|PMID:33576794|PMID:33847019 12285623 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735585 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12285623 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:10283 prostate cancer ISO RGD:735585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12285623 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:114 heart disease ISO RGD:735585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15247211 12285623 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:14330 Parkinson's disease ISO RGD:735585 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:brain (human) PMID:24395787|REF_RGD_ID:8693390 12285623 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:2841 asthma ISO RGD:735585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22205926 12285623 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:6000 congestive heart failure ISO RGD:735585 D RGD:9068941 20200609 RGD mRNA:increased expression:vastus lateralis muscle (human) PMID:14567976|REF_RGD_ID:8693707 12285623 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:630 genetic disease ISO RGD:735585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285623 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:3380 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:2562181|REF_RGD_ID:8693574 12285623 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:9002211 Hyperalgesia ISO RGD:3380 D RGD:9068941 20200609 RGD PMID:26732138|REF_RGD_ID:11572421 12285623 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12285623 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:9006344 Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities ISO RGD:735585 D RGD:7240710 20190424 OMIM 12285623 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:9006344 Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities ISO RGD:735585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder and language delay with or without structural brain abnormalities PMID:25741868|PMID:28333917|PMID:28492532|PMID:29051493|PMID:30595372 12285623 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735585 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12285623 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:735585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12285623 PPP2CA protein phosphatase 2 catalytic subunit alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:3380 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, quadriceps, epididymal fat pad (rat) PMID:22087313|REF_RGD_ID:8693665 12285634 SPOCK1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1322984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12285634 SPOCK1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1322984 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12285634 SPOCK1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 gene DOID:10907 microcephaly ISO RGD:1322984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12285634 SPOCK1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 gene DOID:630 genetic disease ISO RGD:1322984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285634 SPOCK1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1322984 D RGD:9068941 20220825 RGD human cells in mouse model PMID:30710422|REF_RGD_ID:153344549 12285634 SPOCK1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17929269 12285634 SPOCK1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12285634 SPOCK1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322984 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12285648 KIF20A kinesin family member 20A gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1317032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12285648 KIF20A kinesin family member 20A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1317032 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12285648 KIF20A kinesin family member 20A gene DOID:0080600 COVID-19 ISO RGD:1317032 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12285648 KIF20A kinesin family member 20A gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1317032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12285648 KIF20A kinesin family member 20A gene DOID:630 genetic disease ISO RGD:1317032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12285648 KIF20A kinesin family member 20A gene DOID:684 hepatocellular carcinoma ISO RGD:1317032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12285648 KIF20A kinesin family member 20A gene DOID:9000303 Familial Restrictive Cardiomyopathy 6 ISO RGD:1317032 D RGD:7240710 20210728 OMIM 12285648 KIF20A kinesin family member 20A gene DOID:9000303 Familial Restrictive Cardiomyopathy 6 ISO RGD:1317032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 6 PMID:29357359 12285648 KIF20A kinesin family member 20A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12285648 KIF20A kinesin family member 20A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317032 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12285668 DOP1A DOP1 leucine zipper like protein A gene DOID:0080545 hyper IgE syndrome ISO RGD:1313616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgE syndrome PMID:24698316 12285668 DOP1A DOP1 leucine zipper like protein A gene DOID:0111953 immunodeficiency 23 ISO RGD:1313616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:14981714|PMID:17548465|PMID:17576681|PMID:24033266|PMID:24589341|PMID:24698316|PMID:24931394|PMID:25741868|PMID:28492532|PMID:33098103|PMID:9536098 12285668 DOP1A DOP1 leucine zipper like protein A gene DOID:627 severe combined immunodeficiency ISO RGD:1313616 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 12285668 DOP1A DOP1 leucine zipper like protein A gene DOID:630 genetic disease ISO RGD:1313616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12285719 WDR54 WD repeat domain 54 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1347717 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12285719 WDR54 WD repeat domain 54 gene DOID:543 dystonia ISO RGD:1347717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12285719 WDR54 WD repeat domain 54 gene DOID:630 genetic disease ISO RGD:1347717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285719 WDR54 WD repeat domain 54 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1347717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12285736 DARS1 aspartyl-tRNA synthetase 1 gene DOID:0060591 WHIM syndrome 1 ISO RGD:732389 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 12285736 DARS1 aspartyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:732389 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285736 DARS1 aspartyl-tRNA synthetase 1 gene DOID:9006484 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity ISO RGD:732389 D RGD:7240710 20180130 OMIM 12285736 DARS1 aspartyl-tRNA synthetase 1 gene DOID:9006484 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity ISO RGD:732389 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ASPARTYL-tRNA SYNTHETASE DEFICIENCY | ClinVar Annotator: match by term: Hypomyelination with brainstem and spinal cord involvement and leg spasticity PMID:23643384|PMID:25527264|PMID:25741868|PMID:28492532 12285756 ODAD3 outer dynein arm docking complex subunit 3 gene DOID:0050144 Kartagener syndrome ISO RGD:1603185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:25192045|PMID:25224326|PMID:25741868|PMID:28492532 12285756 ODAD3 outer dynein arm docking complex subunit 3 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1603185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12285756 ODAD3 outer dynein arm docking complex subunit 3 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1603185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12285756 ODAD3 outer dynein arm docking complex subunit 3 gene DOID:0110624 primary ciliary dyskinesia 30 ISO RGD:1603185 D RGD:7240710 20180130 OMIM 12285756 ODAD3 outer dynein arm docking complex subunit 3 gene DOID:0110624 primary ciliary dyskinesia 30 ISO RGD:1603185 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 30 PMID:16199547|PMID:17576681|PMID:24033266|PMID:25192045|PMID:25224326|PMID:25741868|PMID:28492532|PMID:31213628|PMID:32111882|PMID:9536098 12285756 ODAD3 outer dynein arm docking complex subunit 3 gene DOID:0111254 glutaric acidemia I ISO RGD:1603185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12285756 ODAD3 outer dynein arm docking complex subunit 3 gene DOID:3413 alpha-mannosidosis ISO RGD:1603185 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12285756 ODAD3 outer dynein arm docking complex subunit 3 gene DOID:630 genetic disease ISO RGD:1603185 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12285756 ODAD3 outer dynein arm docking complex subunit 3 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1603185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic liver disease 1 12285756 ODAD3 outer dynein arm docking complex subunit 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1603185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 12285773 MTA1 metastasis associated 1 gene DOID:14330 Parkinson's disease ISO RGD:731516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27044752 12285773 MTA1 metastasis associated 1 gene DOID:289 endometriosis ISO RGD:731516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12285773 MTA1 metastasis associated 1 gene DOID:630 genetic disease ISO RGD:731516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285773 MTA1 metastasis associated 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:731516 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung;mRNA:increased expression:lung PMID:11804687|REF_RGD_ID:9588220 12285812 STAP1 signal transducing adaptor family member 1 gene DOID:13810 familial hypercholesterolemia ISO RGD:1603225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:26036859 12285812 STAP1 signal transducing adaptor family member 1 gene DOID:630 genetic disease ISO RGD:1603225 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285812 STAP1 signal transducing adaptor family member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12285838 NMD3 NMD3 ribosome export adaptor gene DOID:10283 prostate cancer ISO RGD:1348373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12285838 NMD3 NMD3 ribosome export adaptor gene DOID:630 genetic disease ISO RGD:1348373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285866 SLC25A46 solute carrier family 25 member 46 gene DOID:0050952 spastic ataxia ISO RGD:1606754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 12285866 SLC25A46 solute carrier family 25 member 46 gene DOID:0080068 Charcot-Marie-Tooth disease type 6 ISO RGD:1332229 D RGD:9068941 20220825 MouseDO OMIM:601152 | OMIM:616505 12285866 SLC25A46 solute carrier family 25 member 46 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606754 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12285866 SLC25A46 solute carrier family 25 member 46 gene DOID:0112330 pontocerebellar hypoplasia type 1E ISO RGD:1606754 D RGD:7240710 20210526 OMIM 12285866 SLC25A46 solute carrier family 25 member 46 gene DOID:0112330 pontocerebellar hypoplasia type 1E ISO RGD:1606754 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1E PMID:25741868|PMID:26168012|PMID:27390132|PMID:27543974|PMID:28492532|PMID:28637197|PMID:28653766|PMID:8147499 12285866 SLC25A46 solute carrier family 25 member 46 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1606754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:28492532 12285866 SLC25A46 solute carrier family 25 member 46 gene DOID:5723 optic atrophy ISO RGD:1606754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26168012 12285866 SLC25A46 solute carrier family 25 member 46 gene DOID:630 genetic disease ISO RGD:1606754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26168012|PMID:26951855|PMID:27543974|PMID:28369803|PMID:28492532|PMID:28558379|PMID:32259769|PMID:33841295|PMID:9536098 12285866 SLC25A46 solute carrier family 25 member 46 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12285866 SLC25A46 solute carrier family 25 member 46 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606754 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12285866 SLC25A46 solute carrier family 25 member 46 gene DOID:9008547 Charcot-Marie-Tooth Disease Type 6B ISO RGD:1606754 D RGD:7240710 20190911 OMIM 12285866 SLC25A46 solute carrier family 25 member 46 gene DOID:9008547 Charcot-Marie-Tooth Disease Type 6B ISO RGD:1606754 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:26168012|PMID:26951855|PMID:27430653|PMID:27543974|PMID:28369803|PMID:28492532|PMID:28558379|PMID:28653766|PMID:31607746|PMID:32259769|PMID:33369814|PMID:33816684|PMID:33841295|PMID:9536098 12285875 STK10 serine/threonine kinase 10 gene DOID:630 genetic disease ISO RGD:733000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285875 STK10 serine/threonine kinase 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12285898 TNS4 tensin 4 gene DOID:630 genetic disease ISO RGD:1605916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285915 ASMTL acetylserotonin O-methyltransferase like gene DOID:12849 autistic disorder ISO RGD:1315744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12285915 ASMTL acetylserotonin O-methyltransferase like gene DOID:13938 amenorrhea ISO RGD:1315744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12285915 ASMTL acetylserotonin O-methyltransferase like gene DOID:2661 myoepithelioma ISO RGD:1315744 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12285915 ASMTL acetylserotonin O-methyltransferase like gene DOID:9119 acute myeloid leukemia ISO RGD:1315744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12285932 GLMP glycosylated lysosomal membrane protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12285932 GLMP glycosylated lysosomal membrane protein gene DOID:0080600 COVID-19 ISO RGD:1602078 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12285932 GLMP glycosylated lysosomal membrane protein gene DOID:0111940 immunodeficiency 42 ISO RGD:1602078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12285932 GLMP glycosylated lysosomal membrane protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1602078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12285932 GLMP glycosylated lysosomal membrane protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1602078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12285932 GLMP glycosylated lysosomal membrane protein gene DOID:1540 parathyroid carcinoma ISO RGD:1602078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12285932 GLMP glycosylated lysosomal membrane protein gene DOID:5812 MHC class II deficiency ISO RGD:1602078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12285932 GLMP glycosylated lysosomal membrane protein gene DOID:630 genetic disease ISO RGD:1602078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285932 GLMP glycosylated lysosomal membrane protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12285947 USP47 ubiquitin specific peptidase 47 gene DOID:1059 intellectual disability ISO RGD:1321301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12285947 USP47 ubiquitin specific peptidase 47 gene DOID:630 genetic disease ISO RGD:1321301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285980 PDIK1L PDLIM1 interacting kinase 1 like gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1352576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 12285980 PDIK1L PDLIM1 interacting kinase 1 like gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1352576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12285980 PDIK1L PDLIM1 interacting kinase 1 like gene DOID:630 genetic disease ISO RGD:1352576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285991 MIA3 MIA SH3 domain ER export factor 3 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1605216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12285991 MIA3 MIA SH3 domain ER export factor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1605216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12285991 MIA3 MIA SH3 domain ER export factor 3 gene DOID:3393 coronary artery disease ISO RGD:1605216 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Coronary artery disease PMID:25741868 12285991 MIA3 MIA SH3 domain ER export factor 3 gene DOID:5844 myocardial infarction ISO RGD:1605216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198609 12285991 MIA3 MIA SH3 domain ER export factor 3 gene DOID:630 genetic disease ISO RGD:1605216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12285991 MIA3 MIA SH3 domain ER export factor 3 gene DOID:9002545 Odontochondrodysplasia 2 with Hearing Loss and Diabetes ISO RGD:1605216 D RGD:7240710 20210414 OMIM 12285991 MIA3 MIA SH3 domain ER export factor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12286036 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0050712 AGAT deficiency ISO RGD:1347040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 12286036 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0050952 spastic ataxia ISO RGD:1347040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 12286036 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0060041 autism spectrum disorder ISO RGD:1347040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12286036 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0060197 juvenile amyotrophic lateral sclerosis 5 ISO RGD:1347040 D RGD:7240710 20180130 OMIM 12286036 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0060197 juvenile amyotrophic lateral sclerosis 5 ISO RGD:1347040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 5 PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18717728|PMID:18835492|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:23221952|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24451228|PMID:24731568|PMID:24833714|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26467025|PMID:26556829|PMID:26742954|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27790088|PMID:27900367|PMID:27957547|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29525178|PMID:29691679|PMID:29946510|PMID:29980238|PMID:30363882|PMID:30373780|PMID:31289639|PMID:31589614|PMID:31692161|PMID:32005694|PMID:32166880|PMID:32579787|PMID:32671691|PMID:32989326|PMID:33414559|PMID:33589474|PMID:33624863|PMID:34153142|PMID:9536098 12286036 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110176 Charcot-Marie-Tooth disease axonal type 2X ISO RGD:1347040 D RGD:7240710 20180130 OMIM 12286036 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110176 Charcot-Marie-Tooth disease axonal type 2X ISO RGD:1347040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2X | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2X PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18663179|PMID:18835492|PMID:19105190|PMID:19196735|PMID:19438933|PMID:19513778|PMID:20110243|PMID:20301389|PMID:20390432|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23443022|PMID:23812641|PMID:23881933|PMID:24731568|PMID:24833714|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26467025|PMID:26556829|PMID:26742954|PMID:27071356|PMID:27217339|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27900367|PMID:27957547|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:29246610|PMID:29525178|PMID:29691679|PMID:29980238|PMID:30363882|PMID:30373780|PMID:31289639|PMID:31692161|PMID:32005694|PMID:32166880|PMID:32989326|PMID:33414559|PMID:33589474|PMID:34153142|PMID:9536098 12286036 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1347040 D RGD:7240710 20180130 OMIM 12286036 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1347040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23121729|PMID:23443022|PMID:23733235|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:29246610|PMID:29342275|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30778698|PMID:31289639|PMID:31407473|PMID:31589614|PMID:31692161|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32860008|PMID:32989326|PMID:34906502|PMID:9536098 12286036 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1347040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26742954|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29949766|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30609409|PMID:30778698|PMID:31227335|PMID:31289639|PMID:31407473|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32638105|PMID:32860008|PMID:32989326|PMID:33084218|PMID:33144682|PMID:33414559|PMID:33430805|PMID:33589474|PMID:33624863|PMID:34906502|PMID:35047667|PMID:9536098 12286036 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1347040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:26755014|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28119845|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29949766|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30609409|PMID:30778698|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32005694|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32579787|PMID:32638105|PMID:32671691|PMID:32729724|PMID:32860008|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33144682|PMID:33414559|PMID:33589474|PMID:33624863|PMID:33669240|PMID:34153142|PMID:34906502|PMID:35047667|PMID:9536098 12286036 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1347040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:26755014|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28119845|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29949766|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30609409|PMID:30778698|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32005694|PMID:32007754|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32579787|PMID:32638105|PMID:32671691|PMID:32729724|PMID:32860008|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33098801|PMID:33144682|PMID:33414559|PMID:33589474|PMID:33624863|PMID:33669240|PMID:34153142|PMID:34906502|PMID:35047667|PMID:36139378|PMID:9536098 12286036 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1347040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:26755014|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28119845|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29949766|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30609409|PMID:30778698|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32005694|PMID:32007754|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32579787|PMID:32638105|PMID:32671691|PMID:32729724|PMID:32860008|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33098801|PMID:33144682|PMID:33414559|PMID:33589474|PMID:33624863|PMID:33669240|PMID:34153142|PMID:34906502|PMID:35047667|PMID:35254204|PMID:36139378|PMID:9536098 12286036 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:1059 intellectual disability ISO RGD:1347040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17322883|PMID:17576681|PMID:18067136|PMID:25174650|PMID:25741868|PMID:26467025|PMID:27066562|PMID:27217339|PMID:28492532|PMID:9536098 12286036 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19196735|PMID:19438933|PMID:19466474|PMID:20110243|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23443022|PMID:23733235|PMID:24033266|PMID:24090761|PMID:24833714|PMID:25174650|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27066562|PMID:27071356|PMID:27217339|PMID:27457812|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:27957547|PMID:28130640|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29980238|PMID:31289639|PMID:31407473|PMID:32166880|PMID:32409511|PMID:9536098 12286036 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18414213|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19196735|PMID:19438933|PMID:19466474|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:23733235|PMID:24033266|PMID:24090761|PMID:24833714|PMID:25174650|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26046366|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27066562|PMID:27071356|PMID:27217339|PMID:27457812|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:27957547|PMID:28130640|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29980238|PMID:30609409|PMID:31289639|PMID:31407473|PMID:32166880|PMID:32409511|PMID:32579787|PMID:32671691|PMID:33589474|PMID:33624863|PMID:9536098 12286036 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19196735|PMID:19438933|PMID:19466474|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23221952|PMID:23443022|PMID:23733235|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26046366|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:26755014|PMID:27066562|PMID:27071356|PMID:27217339|PMID:27457812|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:27957547|PMID:28130640|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29980238|PMID:30212743|PMID:30609409|PMID:30778698|PMID:31289639|PMID:31407473|PMID:32005694|PMID:32166880|PMID:32409511|PMID:32579787|PMID:32671691|PMID:33098801|PMID:33589474|PMID:33624863|PMID:35254204|PMID:35464835|PMID:36139378|PMID:9536098 12286036 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:2717 Bloom syndrome ISO RGD:1347040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12286036 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1347040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:18337587|PMID:19466474|PMID:22696581|PMID:23733235|PMID:24833714|PMID:25588603|PMID:25741868|PMID:26374131|PMID:26467025|PMID:27790088|PMID:27884173|PMID:27904835|PMID:28130640|PMID:28492532|PMID:31407473|PMID:33098801|PMID:33414559|PMID:35254204|PMID:36139378 12286036 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:607 paraplegia ISO RGD:1347040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:19105190|PMID:20110243|PMID:20301389|PMID:21381113|PMID:22154821|PMID:23043354|PMID:23733235|PMID:25741868|PMID:26556829|PMID:28492532 12286036 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:630 genetic disease ISO RGD:1347040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18414213|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19917823|PMID:20110243|PMID:20301389|PMID:21381113|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:23043354|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24090761|PMID:24482476|PMID:24833714|PMID:25174650|PMID:25588603|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27180005|PMID:27217339|PMID:27318863|PMID:27457812|PMID:28160950|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29908077|PMID:29949766|PMID:29980238|PMID:30564185|PMID:31227335|PMID:31289639|PMID:31900114|PMID:32166880|PMID:32214227|PMID:32409511|PMID:33414559|PMID:33430805|PMID:33589474|PMID:33624863|PMID:35047667|PMID:9536098 12286036 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:630 genetic disease ISO RGD:1347040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18414213|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20571989|PMID:21381113|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23043354|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24090761|PMID:24482476|PMID:24833714|PMID:25174650|PMID:25299611|PMID:25588603|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27180005|PMID:27217339|PMID:27318863|PMID:27457812|PMID:27790088|PMID:27900367|PMID:28160950|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29908077|PMID:29949766|PMID:29980238|PMID:30564185|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31900114|PMID:32005694|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32729724|PMID:33098801|PMID:33414559|PMID:33589474|PMID:33624863|PMID:33669240|PMID:35047667|PMID:35254204|PMID:36139378|PMID:9536098 12286036 SPG11 SPG11 vesicle trafficking associated, spatacsin gene DOID:9256 colorectal cancer ISO RGD:1347040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12286085 CPT1C carnitine palmitoyltransferase 1C gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1313382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12286085 CPT1C carnitine palmitoyltransferase 1C gene DOID:0110818 hereditary spastic paraplegia 73 ISO RGD:1313382 D RGD:7240710 20180130 OMIM 12286085 CPT1C carnitine palmitoyltransferase 1C gene DOID:0110818 hereditary spastic paraplegia 73 ISO RGD:1313382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 73 PMID:16199547|PMID:17576681|PMID:25741868|PMID:25751282|PMID:28492532|PMID:30564185|PMID:30911584|PMID:9536098 12286085 CPT1C carnitine palmitoyltransferase 1C gene DOID:1909 melanoma ISO RGD:1313382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 12286085 CPT1C carnitine palmitoyltransferase 1C gene DOID:574 peripheral nervous system disease ISO RGD:1313382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 12286085 CPT1C carnitine palmitoyltransferase 1C gene DOID:607 paraplegia ISO RGD:1313382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868 12286085 CPT1C carnitine palmitoyltransferase 1C gene DOID:630 genetic disease ISO RGD:1313382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12286132 OPTC opticin gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1312631 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12286132 OPTC opticin gene DOID:1540 parathyroid carcinoma ISO RGD:1312631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12286132 OPTC opticin gene DOID:630 genetic disease ISO RGD:1312631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12286132 OPTC opticin gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1312631 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12286132 OPTC opticin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12286148 LHB luteinizing hormone subunit beta gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:69097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12286148 LHB luteinizing hormone subunit beta gene DOID:0090091 hypogonadotropic hypogonadism 23 with or without anosmia ISO RGD:69097 D RGD:7240710 20180130 OMIM 12286148 LHB luteinizing hormone subunit beta gene DOID:0090091 hypogonadotropic hypogonadism 23 with or without anosmia ISO RGD:69097 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 23 with or without anosmia PMID:11384661|PMID:12189497|PMID:12620433|PMID:15602022|PMID:1727547|PMID:17761593|PMID:19126631|PMID:19890128|PMID:22723313|PMID:25741868|PMID:28492532|PMID:429481|PMID:8979264|PMID:9457942|PMID:9694256 12286148 LHB luteinizing hormone subunit beta gene DOID:0111076 progressive familial heart block type IB ISO RGD:69097 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 12286148 LHB luteinizing hormone subunit beta gene DOID:10763 hypertension ISO RGD:69097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 12286148 LHB luteinizing hormone subunit beta gene DOID:11612 polycystic ovary syndrome ISO RGD:69097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11889176|PMID:20378617 12286148 LHB luteinizing hormone subunit beta gene DOID:12336 male infertility ISO RGD:69097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10739843|PMID:15602022|PMID:387166 12286148 LHB luteinizing hormone subunit beta gene DOID:12700 hyperprolactinemia ISO RGD:69097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6770916 12286148 LHB luteinizing hormone subunit beta gene DOID:1574 alcohol use disorder ISO RGD:69097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8590623 12286148 LHB luteinizing hormone subunit beta gene DOID:1924 hypogonadism ISO RGD:69097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15602022|PMID:1727547|PMID:18449926|PMID:8263139 12286148 LHB luteinizing hormone subunit beta gene DOID:2696 Leydig cell tumor ISO RGD:69097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25289773 12286148 LHB luteinizing hormone subunit beta gene DOID:2945 severe acute respiratory syndrome ISO RGD:69097 D RGD:9068941 20200609 RGD protein:increased expression:adenohypophysis (human) PMID:20651845|REF_RGD_ID:28711759 12286148 LHB luteinizing hormone subunit beta gene DOID:630 genetic disease ISO RGD:69097 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12286148 LHB luteinizing hormone subunit beta gene DOID:9001239 Delayed Puberty ISO RGD:69097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15602022 12286148 LHB luteinizing hormone subunit beta gene DOID:9001310 Tobacco Use Disorder ISO RGD:69097 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:12893845 12286148 LHB luteinizing hormone subunit beta gene DOID:9002395 Hypothermia ISO RGD:69097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 12286148 LHB luteinizing hormone subunit beta gene DOID:9002554 Tachycardia ISO RGD:69097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 12286148 LHB luteinizing hormone subunit beta gene DOID:9005632 Cocaine-Related Disorders ISO RGD:69097 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:12893845 12286148 LHB luteinizing hormone subunit beta gene DOID:9007001 Bradycardia ISO RGD:69097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:6350720 12286148 LHB luteinizing hormone subunit beta gene DOID:9007284 Precocious Puberty ISO RGD:69097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18345393 12286148 LHB luteinizing hormone subunit beta gene DOID:9007456 Female Infertility ISO RGD:69097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9457942 12286154 COX8A cytochrome c oxidase subunit VIIIA (ubiquitous) gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1348555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12286154 COX8A cytochrome c oxidase subunit VIIIA (ubiquitous) gene DOID:1059 intellectual disability ISO RGD:1348555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12286154 COX8A cytochrome c oxidase subunit VIIIA (ubiquitous) gene DOID:3070 high grade glioma ISO RGD:1348555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12286154 COX8A cytochrome c oxidase subunit VIIIA (ubiquitous) gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1348555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:25741868|PMID:26685157 12286154 COX8A cytochrome c oxidase subunit VIIIA (ubiquitous) gene DOID:9001092 Mitochondrial Complex IV Deficiency, Nuclear Type 15 ISO RGD:1348555 D RGD:7240710 20201111 OMIM 12286154 COX8A cytochrome c oxidase subunit VIIIA (ubiquitous) gene DOID:9001092 Mitochondrial Complex IV Deficiency, Nuclear Type 15 ISO RGD:1348555 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 PMID:25741868|PMID:28492532 12286160 CLASRP CLK4 associating serine/arginine rich protein gene DOID:630 genetic disease ISO RGD:1347770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12286191 LCP1 lymphocyte cytosolic protein 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1317977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12286191 LCP1 lymphocyte cytosolic protein 1 gene DOID:630 genetic disease ISO RGD:1317977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12286191 LCP1 lymphocyte cytosolic protein 1 gene DOID:9000955 Acute Otitis Media ISO RGD:8892287 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mucosa of middle ear PMID:26711468|REF_RGD_ID:11553828 12286191 LCP1 lymphocyte cytosolic protein 1 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1317977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 12286191 LCP1 lymphocyte cytosolic protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12286222 RARB retinoic acid receptor beta gene DOID:0060041 autism spectrum disorder ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 12286222 RARB retinoic acid receptor beta gene DOID:0060728 NGLY1-deficiency ISO RGD:737497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of deglycosylation PMID:24651605|PMID:28492532 12286222 RARB retinoic acid receptor beta gene DOID:0111800 syndromic microphthalmia 12 ISO RGD:737497 D RGD:7240710 20180130 OMIM 12286222 RARB retinoic acid receptor beta gene DOID:0111800 syndromic microphthalmia 12 ISO RGD:737497 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Microphthalmia, syndromic 12 PMID:14973393|PMID:17506106|PMID:24075189|PMID:24651605|PMID:25457163|PMID:25741868|PMID:27120018|PMID:28492532 12286222 RARB retinoic acid receptor beta gene DOID:10629 microphthalmia ISO RGD:737497 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25741868 12286222 RARB retinoic acid receptor beta gene DOID:11446 sciatic neuropathy ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16782282 12286222 RARB retinoic acid receptor beta gene DOID:12270 coloboma ISO RGD:737497 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:25741868 12286222 RARB retinoic acid receptor beta gene DOID:1749 squamous cell carcinoma ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17549354 12286222 RARB retinoic acid receptor beta gene DOID:289 endometriosis ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12286222 RARB retinoic acid receptor beta gene DOID:299 adenocarcinoma ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14656941 12286222 RARB retinoic acid receptor beta gene DOID:3908 lung non-small cell carcinoma ISO RGD:737497 D RGD:9068941 20200609 RGD DNA:hypermethylation:lung PMID:18349282|PMID:23599765|REF_RGD_ID:13503323|REF_RGD_ID:13503324 12286222 RARB retinoic acid receptor beta gene DOID:3910 lung adenocarcinoma ISO RGD:737497 D RGD:9068941 20200609 RGD DNA:hypomethylation:lung PMID:26695082|REF_RGD_ID:13464334 12286222 RARB retinoic acid receptor beta gene DOID:5409 lung small cell carcinoma ISO RGD:737497 D RGD:9068941 20200609 RGD DNA:methylation: : PMID:29851970|REF_RGD_ID:13825142 12286222 RARB retinoic acid receptor beta gene DOID:630 genetic disease ISO RGD:737497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14973393|PMID:17506106|PMID:24075189|PMID:25457163|PMID:25741868|PMID:27120018|PMID:28492532 12286222 RARB retinoic acid receptor beta gene DOID:7596 asbestos-related lung carcinoma ISO RGD:737497 D RGD:9068941 20200609 RGD DNA:hypomethylation:lung PMID:28722770|REF_RGD_ID:13503322 12286222 RARB retinoic acid receptor beta gene DOID:9000217 Stomach Neoplasms ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16134180 12286222 RARB retinoic acid receptor beta gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17961338 12286222 RARB retinoic acid receptor beta gene DOID:9005172 Lung Neoplasms ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14656941 12286222 RARB retinoic acid receptor beta gene DOID:9006169 Head and Neck Neoplasms ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17549354 12286222 RARB retinoic acid receptor beta gene DOID:9008939 Breast Neoplasms ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16255778 12286246 EFL1 elongation factor like GTPase 1 gene DOID:2717 Bloom syndrome ISO RGD:1352796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12286246 EFL1 elongation factor like GTPase 1 gene DOID:3070 high grade glioma ISO RGD:1352796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25015090 12286246 EFL1 elongation factor like GTPase 1 gene DOID:630 genetic disease ISO RGD:1352796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:31151987 12286246 EFL1 elongation factor like GTPase 1 gene DOID:9009168 Shwachman-Diamond Syndrome 2 ISO RGD:1352796 D RGD:7240710 20190315 OMIM 12286246 EFL1 elongation factor like GTPase 1 gene DOID:9009168 Shwachman-Diamond Syndrome 2 ISO RGD:1352796 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Shwachman-Diamond syndrome 2 PMID:25741868|PMID:28331068|PMID:28492532|PMID:29970384|PMID:31151987|PMID:34115847 12286246 EFL1 elongation factor like GTPase 1 gene DOID:9256 colorectal cancer ISO RGD:1352796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12286269 PARK7 Parkinsonism associated deglycase gene DOID:0060368 Parkinson's disease 2 ISO RGD:1344212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Young-onset Parkinson disease PMID:25741868 12286269 PARK7 Parkinsonism associated deglycase gene DOID:0060369 Parkinson's disease 6 ISO RGD:1344212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 PMID:16632486 12286269 PARK7 Parkinsonism associated deglycase gene DOID:0060370 Parkinson's disease 7 ISO RGD:1344212 D RGD:7240710 20180130 OMIM 12286269 PARK7 Parkinsonism associated deglycase gene DOID:0060370 Parkinson's disease 7 ISO RGD:1344212 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 7 PMID:12446870|PMID:12891675|PMID:12891685|PMID:12953260|PMID:14662519|PMID:14705128|PMID:14872018|PMID:15219840|PMID:15254937|PMID:15365989|PMID:15790532|PMID:15944198|PMID:16997464|PMID:17576681|PMID:18181649|PMID:1818649|PMID:18436956|PMID:18436965|PMID:18973254|PMID:19405094|PMID:19429112|PMID:20639397|PMID:20806408|PMID:20981092|PMID:21532868|PMID:22173095|PMID:22428580|PMID:22492997|PMID:22960331|PMID:22995991|PMID:23183826|PMID:23241025|PMID:23792957|PMID:25741868|PMID:26274610|PMID:26467025|PMID:27085187|PMID:27294386|PMID:27592010|PMID:27884173|PMID:28492532|PMID:28993701|PMID:29599708|PMID:31028127|PMID:32144268|PMID:33795807|PMID:9536098 12286269 PARK7 Parkinsonism associated deglycase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1344212 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12286269 PARK7 Parkinsonism associated deglycase gene DOID:0060892 late onset Parkinson's disease ISO RGD:1344212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset 12286269 PARK7 Parkinsonism associated deglycase gene DOID:0080855 Parkinsonism ISO RGD:1344212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Juvenile 12286269 PARK7 Parkinsonism associated deglycase gene DOID:0080855 Parkinsonism treatment ISO RGD:1344212 D RGD:9068941 20200609 RGD PMID:16860563|REF_RGD_ID:1601076 12286269 PARK7 Parkinsonism associated deglycase gene DOID:0080855 Parkinsonism treatment ISO RGD:621808 D RGD:9068941 20200609 RGD PMID:18373560|PMID:22041943|REF_RGD_ID:13462067|REF_RGD_ID:13463452 12286269 PARK7 Parkinsonism associated deglycase gene DOID:0111101 maturity-onset diabetes of the young type 5 ISO RGD:1344212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal cysts and diabetes syndrome PMID:12891685|PMID:14662519|PMID:14705128|PMID:14872018|PMID:15219840|PMID:15790532|PMID:16997464|PMID:19429112|PMID:22173095|PMID:22428580|PMID:22960331|PMID:22995991|PMID:25741868|PMID:26274610|PMID:26467025|PMID:27294386|PMID:27592010|PMID:28492532 12286269 PARK7 Parkinsonism associated deglycase gene DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 ISO RGD:1344212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Guam disease PMID:25741868 12286269 PARK7 Parkinsonism associated deglycase gene DOID:11476 osteoporosis ISO RGD:1344212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12286269 PARK7 Parkinsonism associated deglycase gene DOID:14330 Parkinson's disease ISO RGD:1344212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Recessive PMID:12953260|PMID:20981092|PMID:26467025|PMID:27884173|PMID:28492532 12286269 PARK7 Parkinsonism associated deglycase gene DOID:14330 Parkinson's disease onset ISO RGD:1344212 D RGD:9068941 20200609 RGD DNA:missense mutation, deletion: :L166P PMID:12851414|REF_RGD_ID:1601073 12286269 PARK7 Parkinsonism associated deglycase gene DOID:231 motor neuron disease ISO RGD:1344212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:25741868 12286269 PARK7 Parkinsonism associated deglycase gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1344212 D RGD:9068941 20200609 RGD PMID:17882163|REF_RGD_ID:13463450 12286269 PARK7 Parkinsonism associated deglycase gene DOID:3526 cerebral infarction ISO RGD:1552781 D RGD:9068941 20200609 RGD PMID:18003894|REF_RGD_ID:13462069 12286269 PARK7 Parkinsonism associated deglycase gene DOID:3526 cerebral infarction treatment ISO RGD:1344212 D RGD:9068941 20200609 RGD PMID:18003894|REF_RGD_ID:13462069 12286269 PARK7 Parkinsonism associated deglycase gene DOID:630 genetic disease ISO RGD:1344212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12286269 PARK7 Parkinsonism associated deglycase gene DOID:684 hepatocellular carcinoma ISO RGD:1344212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12286269 PARK7 Parkinsonism associated deglycase gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1344212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 12286269 PARK7 Parkinsonism associated deglycase gene DOID:9000582 Reticulocytosis ISO RGD:1344212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20800516 12286269 PARK7 Parkinsonism associated deglycase gene DOID:9001820 Pulmonary Arterial Hypertension exacerbates ISO RGD:621808 D RGD:9068941 20220128 RGD PMID:29069575|REF_RGD_ID:151347449 12286269 PARK7 Parkinsonism associated deglycase gene DOID:9002955 Nerve Degeneration ISO RGD:1344212 D RGD:9068941 20201106 CTD CTD Direct Evidence: therapeutic PMID:29649621 12286269 PARK7 Parkinsonism associated deglycase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12286269 PARK7 Parkinsonism associated deglycase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12286284 FREM1 FRAS1 related extracellular matrix 1 gene DOID:0060673 Peters anomaly ISO RGD:1345384 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:21931569|PMID:26893459|PMID:28492532 12286284 FREM1 FRAS1 related extracellular matrix 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1616422 D RGD:9068941 20220825 MouseDO OMIM:158170 12286284 FREM1 FRAS1 related extracellular matrix 1 gene DOID:0080205 CAKUT ISO RGD:1345384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:28492532 12286284 FREM1 FRAS1 related extracellular matrix 1 gene DOID:0080610 anterior segment dysgenesis 5 ISO RGD:1345384 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 PMID:21931569|PMID:26893459|PMID:28492532 12286284 FREM1 FRAS1 related extracellular matrix 1 gene DOID:0090001 Fraser syndrome ISO RGD:1616422 D RGD:9068941 20220825 MouseDO OMIM:219000 12286284 FREM1 FRAS1 related extracellular matrix 1 gene DOID:0111717 isolated cryptophthalmia ISO RGD:1616422 D RGD:9068941 20200609 RGD DNA:deletion, frame shift:cds, splice junction: PMID:23221805|REF_RGD_ID:11554181 12286284 FREM1 FRAS1 related extracellular matrix 1 gene DOID:0111717 isolated cryptophthalmia ISO RGD:1616422 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.1687A>T c (p.I563F)(mouse) PMID:23536828|REF_RGD_ID:11554185 12286284 FREM1 FRAS1 related extracellular matrix 1 gene DOID:10907 microcephaly ISO RGD:1345384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12286284 FREM1 FRAS1 related extracellular matrix 1 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:1345384 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Iridogoniodysgenesis with somatic anomalies PMID:21931569|PMID:26893459|PMID:28492532 12286284 FREM1 FRAS1 related extracellular matrix 1 gene DOID:14766 renal agenesis ISO RGD:1345384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23221805 12286284 FREM1 FRAS1 related extracellular matrix 1 gene DOID:2340 craniosynostosis ISO RGD:1345384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trigonocephaly 12286284 FREM1 FRAS1 related extracellular matrix 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1345384 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Agenesis of hemidiaphragm PMID:23806086|PMID:24088041|PMID:25736269|PMID:25741868|PMID:28492532 12286284 FREM1 FRAS1 related extracellular matrix 1 gene DOID:630 genetic disease ISO RGD:1345384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11332973|PMID:21507892|PMID:25741868|PMID:28492532 12286284 FREM1 FRAS1 related extracellular matrix 1 gene DOID:784 chronic kidney disease ISO RGD:1345384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 12286284 FREM1 FRAS1 related extracellular matrix 1 gene DOID:9000566 Bifid Nose with or without Anorectal and Renal Anomalies ISO RGD:1345384 D RGD:7240710 20180130 OMIM 12286284 FREM1 FRAS1 related extracellular matrix 1 gene DOID:9000566 Bifid Nose with or without Anorectal and Renal Anomalies ISO RGD:1345384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bifid nose with or without anorectal and renal anomalies PMID:11332973|PMID:11822703|PMID:17576681|PMID:19732862|PMID:21507892|PMID:25741868|PMID:28492532|PMID:32926405|PMID:9536098 12286284 FREM1 FRAS1 related extracellular matrix 1 gene DOID:9003259 Marles Greenberg Persaud Syndrome ISO RGD:1345384 D RGD:7240710 20180130 OMIM 12286284 FREM1 FRAS1 related extracellular matrix 1 gene DOID:9003259 Marles Greenberg Persaud Syndrome ISO RGD:1345384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Manitoba Trichoanal syndrome | ClinVar Annotator: match by term: Marles Greenberg Persaud syndrome | ClinVar Annotator: match by term: Marles syndrome PMID:11332973|PMID:17352387|PMID:17576681|PMID:21507892|PMID:21931569|PMID:23112756|PMID:23333812|PMID:23806086|PMID:24088041|PMID:24115501|PMID:25736269|PMID:25741868|PMID:26893459|PMID:28492532|PMID:9536098 12286284 FREM1 FRAS1 related extracellular matrix 1 gene DOID:9003807 Bifid Nose ISO RGD:1345384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23221805 12286284 FREM1 FRAS1 related extracellular matrix 1 gene DOID:9005762 Trigonocephaly 2 ISO RGD:1345384 D RGD:7240710 20180130 OMIM 12286284 FREM1 FRAS1 related extracellular matrix 1 gene DOID:9005762 Trigonocephaly 2 ISO RGD:1345384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Trigonocephaly 2 PMID:11332973|PMID:17576681|PMID:21507892|PMID:21931569|PMID:25741868|PMID:26893459|PMID:28492532|PMID:9536098 12286284 FREM1 FRAS1 related extracellular matrix 1 gene DOID:9007261 Nonsyndromic Trigonocephaly ISO RGD:1345384 D RGD:9068941 20200609 RGD DNA:deletion, duplication,missense mutation:cds: PMID:21931569|REF_RGD_ID:11554186 12286284 FREM1 FRAS1 related extracellular matrix 1 gene DOID:9007261 Nonsyndromic Trigonocephaly ISO RGD:1616422 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:21931569|REF_RGD_ID:11554186 12286284 FREM1 FRAS1 related extracellular matrix 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1345384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23221805 12286284 FREM1 FRAS1 related extracellular matrix 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1616422 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.1687A>T c (p.I563F)(mouse) PMID:23536828|REF_RGD_ID:11554185 12286348 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:68519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12286348 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:0060207 amyotrophic lateral sclerosis type 16 ISO RGD:68519 D RGD:7240710 20180130 OMIM 12286348 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:0060207 amyotrophic lateral sclerosis type 16 ISO RGD:68519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 16 PMID:21842496|PMID:24088041|PMID:25175561|PMID:25704016|PMID:25741868|PMID:26078401|PMID:26205306|PMID:26633545|PMID:27042935|PMID:27402882|PMID:27629094|PMID:27821430|PMID:28492532|PMID:28622300|PMID:28708278|PMID:29115704|PMID:30079398|PMID:31511340|PMID:31696229|PMID:32055286|PMID:32579787|PMID:33020464|PMID:33618928 12286348 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:68519 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12286348 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:68519 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12286348 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:68519 D RGD:7240710 20180130 OMIM 12286348 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:68519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:16199547|PMID:21031579|PMID:21842496|PMID:24088041|PMID:25175561|PMID:25261976|PMID:25704016|PMID:25741868|PMID:26078401|PMID:26205306|PMID:26366463|PMID:26467025|PMID:26633545|PMID:27042935|PMID:27402882|PMID:27629094|PMID:27821430|PMID:28160950|PMID:28492532|PMID:28622300|PMID:28708278|PMID:29115704|PMID:29411640|PMID:30079398|PMID:30266269|PMID:30311446|PMID:31324122|PMID:31511340|PMID:31696229|PMID:32055286|PMID:32579787|PMID:33020464|PMID:33369814|PMID:33618928 12286348 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:68519 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12286348 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:10914 amnestic disorder ISO RGD:68519 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12028363 12286348 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:68519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24885036 12286348 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:68519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16204638 12286348 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:630 genetic disease ISO RGD:68519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21842496|PMID:25175561|PMID:25704016|PMID:26078401|PMID:26467025|PMID:27042935|PMID:27402882|PMID:27821430|PMID:28492532|PMID:28622300|PMID:28708278|PMID:29115704|PMID:31696229|PMID:32055286|PMID:33020464|PMID:33369814 12286348 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:8927 learning disability ISO RGD:68519 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15451042 12286348 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:68519 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15451042 12286348 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:68519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24885036 12286348 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:68519 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30661753 12286348 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:68519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12286348 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:68519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12736327|PMID:16132061 12286348 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:9008023 Memory Disorders ISO RGD:68519 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15451042 12286348 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:68519 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12286348 SIGMAR1 sigma non-opioid intracellular receptor 1 gene DOID:9870 galactosemia ISO RGD:68519 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12286359 SEMA3E semaphorin 3E gene DOID:0050834 CHARGE syndrome ISO RGD:1322177 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:15235037|PMID:17576681|PMID:25640679|PMID:25741868|PMID:25985275|PMID:26467025|PMID:27854218|PMID:28492532|PMID:32870266|PMID:9536098 12286359 SEMA3E semaphorin 3E gene DOID:0050834 CHARGE syndrome ISO RGD:1322177 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:15235037|PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:25985275|PMID:26467025|PMID:28492532|PMID:30773290|PMID:32441320|PMID:32870266|PMID:35628442|PMID:9536098 12286359 SEMA3E semaphorin 3E gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1322177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25741868 12286359 SEMA3E semaphorin 3E gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1322177 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A 12286359 SEMA3E semaphorin 3E gene DOID:13938 amenorrhea ISO RGD:1322177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:28492532|PMID:32870266 12286359 SEMA3E semaphorin 3E gene DOID:1826 epilepsy ISO RGD:1322177 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 12286359 SEMA3E semaphorin 3E gene DOID:224 transient cerebral ischemia disease_progression ISO RGD:1310973 D RGD:9068941 20221117 RGD PMID:30653356|REF_RGD_ID:155663383 12286359 SEMA3E semaphorin 3E gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12286359 SEMA3E semaphorin 3E gene DOID:5419 schizophrenia ISO RGD:1322177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12286359 SEMA3E semaphorin 3E gene DOID:630 genetic disease ISO RGD:1322177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12286378 FLRT1 fibronectin leucine rich transmembrane protein 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1345456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12286378 FLRT1 fibronectin leucine rich transmembrane protein 1 gene DOID:1059 intellectual disability ISO RGD:1345456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12286378 FLRT1 fibronectin leucine rich transmembrane protein 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1345456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28832565 12286378 FLRT1 fibronectin leucine rich transmembrane protein 1 gene DOID:3070 high grade glioma ISO RGD:1345456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12286378 FLRT1 fibronectin leucine rich transmembrane protein 1 gene DOID:574 peripheral nervous system disease ISO RGD:1345456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 12286378 FLRT1 fibronectin leucine rich transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1345456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12286378 FLRT1 fibronectin leucine rich transmembrane protein 1 gene DOID:870 neuropathy ISO RGD:1345456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 12286384 CCDC82 coiled-coil domain containing 82 gene DOID:0050888 syndromic intellectual disability ISO RGD:1602861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:28397838|PMID:35118659 12286384 CCDC82 coiled-coil domain containing 82 gene DOID:1059 intellectual disability ISO RGD:1602861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12286384 CCDC82 coiled-coil domain containing 82 gene DOID:12704 ataxia telangiectasia ISO RGD:1602861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12286384 CCDC82 coiled-coil domain containing 82 gene DOID:630 genetic disease ISO RGD:1602861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12286413 PPP2R3A protein phosphatase 2 regulatory subunit B''alpha gene DOID:0060224 atrial fibrillation ISO RGD:1315869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12286413 PPP2R3A protein phosphatase 2 regulatory subunit B''alpha gene DOID:630 genetic disease ISO RGD:1315869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12286413 PPP2R3A protein phosphatase 2 regulatory subunit B''alpha gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1315869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12286437 SLC39A14 solute carrier family 39 member 14 gene DOID:0060496 respiratory allergy ISO RGD:1315975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085522 12286437 SLC39A14 solute carrier family 39 member 14 gene DOID:0060900 Parkinson's disease 14 ISO RGD:1315975 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:36152728 12286437 SLC39A14 solute carrier family 39 member 14 gene DOID:0080537 hypermanganesemia with dystonia 2 ISO RGD:1315975 D RGD:7240710 20190315 OMIM 12286437 SLC39A14 solute carrier family 39 member 14 gene DOID:0080537 hypermanganesemia with dystonia 2 ISO RGD:1315975 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypermanganesemia with dystonia 2 PMID:25741868|PMID:27431290|PMID:28492532|PMID:28541650|PMID:29498153|PMID:29685658|PMID:30232769|PMID:32626807 12286437 SLC39A14 solute carrier family 39 member 14 gene DOID:630 genetic disease ISO RGD:1315975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29498153 12286437 SLC39A14 solute carrier family 39 member 14 gene DOID:9000304 Manganese Poisoning ISO RGD:1315975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28860195 12286437 SLC39A14 solute carrier family 39 member 14 gene DOID:9000831 Hypokinesia ISO RGD:1315975 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:36152728 12286437 SLC39A14 solute carrier family 39 member 14 gene DOID:9005053 Hyperostosis Cranialis Interna ISO RGD:1315975 D RGD:7240710 20200624 OMIM 12286437 SLC39A14 solute carrier family 39 member 14 gene DOID:9005053 Hyperostosis Cranialis Interna ISO RGD:1315975 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hyperostosis cranialis interna PMID:2300107|PMID:25741868|PMID:28492532|PMID:29621230 12286437 SLC39A14 solute carrier family 39 member 14 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1315975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12286460 MOGAT1 monoacylglycerol O-acyltransferase 1 gene DOID:630 genetic disease ISO RGD:1323209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12286460 MOGAT1 monoacylglycerol O-acyltransferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12286470 PNMA1 PNMA family member 1 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:737176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 12286470 PNMA1 PNMA family member 1 gene DOID:1059 intellectual disability ISO RGD:737176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12286475 FOXN1 forkhead box N1 gene DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy ISO RGD:1349825 D RGD:7240710 20180130 OMIM 12286475 FOXN1 forkhead box N1 gene DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy ISO RGD:1349825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:10206641|PMID:15180707|PMID:15897400|PMID:16199547|PMID:17576681|PMID:18339010|PMID:20864124|PMID:20978268|PMID:21507891|PMID:24033266|PMID:25173801|PMID:25741868|PMID:27484032|PMID:28492532|PMID:28636882|PMID:31447097|PMID:31566583|PMID:33464451|PMID:8911612|PMID:9536098 12286475 FOXN1 forkhead box N1 gene DOID:11198 DiGeorge syndrome ISO RGD:11489 D RGD:9068941 20220825 MouseDO OMIM:188400 12286475 FOXN1 forkhead box N1 gene DOID:11200 T cell deficiency ISO RGD:1349825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: T-lymphocyte deficiency PMID:10206641|PMID:15180707|PMID:28492532|PMID:31447097|PMID:31566583 12286475 FOXN1 forkhead box N1 gene DOID:12849 autistic disorder ISO RGD:1349825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12286475 FOXN1 forkhead box N1 gene DOID:4123 nail disease ISO RGD:1349825 D RGD:9068941 20200609 RGD T-cell immunodeficiency, congenital alopecia, and nail dystrophy, OMIM:601705 PMID:10206641|REF_RGD_ID:1599846 12286475 FOXN1 forkhead box N1 gene DOID:612 primary immunodeficiency disease ISO RGD:1349825 D RGD:9068941 20200609 RGD T-cell immunodeficiency, congenital alopecia, and nail dystrophy, OMIM:601705 PMID:10206641|REF_RGD_ID:1599846 12286475 FOXN1 forkhead box N1 gene DOID:630 genetic disease ISO RGD:1349825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12286475 FOXN1 forkhead box N1 gene DOID:9002651 T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT ISO RGD:1349825 D RGD:7240710 20200826 OMIM 12286475 FOXN1 forkhead box N1 gene DOID:9002651 T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT ISO RGD:1349825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant PMID:10206641|PMID:15180707|PMID:15897400|PMID:18339010|PMID:20864124|PMID:20978268|PMID:21507891|PMID:25741868|PMID:28492532|PMID:28636882|PMID:31447097|PMID:31566583|PMID:33464451|PMID:8911612 12286475 FOXN1 forkhead box N1 gene DOID:9004911 Thymus Hyperplasia ISO RGD:3970 D RGD:9068941 20200609 RGD PMID:26931321|REF_RGD_ID:11568681 12286475 FOXN1 forkhead box N1 gene DOID:987 alopecia ISO RGD:1349825 D RGD:9068941 20200609 RGD T-cell immunodeficiency, congenital alopecia, and nail dystrophy, OMIM:601705 PMID:10206641|REF_RGD_ID:1599846 12286501 FUOM fucose mutarotase gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1322512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12286501 FUOM fucose mutarotase gene DOID:630 genetic disease ISO RGD:1322512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12286527 ACP1 acid phosphatase 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:10069 D RGD:9068941 20200609 RGD associated with Tourette Syndrome;DNA:SNP: :p.Q105R, 216A>G (human) PMID:12231445|REF_RGD_ID:1358577 12286527 ACP1 acid phosphatase 1 gene DOID:12995 conduct disorder ISO RGD:10069 D RGD:9068941 20200609 RGD associated with Tourette Syndrome;DNA:SNP: :p.Q105R, 216A>G (human) PMID:12231445|REF_RGD_ID:1358577 12286527 ACP1 acid phosphatase 1 gene DOID:3393 coronary artery disease ISO RGD:10069 D RGD:9068941 20200609 RGD PMID:19246900|REF_RGD_ID:2313179 12286527 ACP1 acid phosphatase 1 gene DOID:630 genetic disease ISO RGD:10069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12286527 ACP1 acid phosphatase 1 gene DOID:8947 diabetic retinopathy ISO RGD:10069 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:12495297|REF_RGD_ID:2313184 12286527 ACP1 acid phosphatase 1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:10069 D RGD:9068941 20200609 RGD associated with Obesity PMID:12409270|REF_RGD_ID:1625288 12286527 ACP1 acid phosphatase 1 gene DOID:9007692 Insulin Resistance ISO RGD:10068 D RGD:9068941 20200609 RGD associated with Obesity PMID:17353188|REF_RGD_ID:2313180 12286527 ACP1 acid phosphatase 1 gene DOID:9351 diabetes mellitus ISO RGD:10069 D RGD:9068941 20200609 RGD PMID:8620937|REF_RGD_ID:2313188 12286527 ACP1 acid phosphatase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:10069 D RGD:9068941 20200609 RGD PMID:15281007|REF_RGD_ID:2313183 12286527 ACP1 acid phosphatase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:10069 D RGD:9068941 20200609 RGD PMID:15586390|REF_RGD_ID:2313182 12286527 ACP1 acid phosphatase 1 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:10069 D RGD:9068941 20200609 RGD PMID:11912546|REF_RGD_ID:2313186 12286527 ACP1 acid phosphatase 1 gene DOID:9970 obesity ISO RGD:10069 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:9198310|REF_RGD_ID:2313187 12286527 ACP1 acid phosphatase 1 gene DOID:9970 obesity severity ISO RGD:10069 D RGD:9068941 20200609 RGD PMID:2373509|REF_RGD_ID:1625289 12286534 RASSF5 Ras association domain family member 5 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606212 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12286534 RASSF5 Ras association domain family member 5 gene DOID:12849 autistic disorder ISO RGD:1606212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12286534 RASSF5 Ras association domain family member 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1606212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12286534 RASSF5 Ras association domain family member 5 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1606212 D RGD:9068941 20200609 RGD PMID:20434789|REF_RGD_ID:13503325 12286534 RASSF5 Ras association domain family member 5 gene DOID:630 genetic disease ISO RGD:1606212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12286534 RASSF5 Ras association domain family member 5 gene DOID:769 neuroblastoma ISO RGD:1606212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18452173 12286534 RASSF5 Ras association domain family member 5 gene DOID:9002265 Kidney Neoplasms ISO RGD:1606212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25217643 12286534 RASSF5 Ras association domain family member 5 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606212 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12286534 RASSF5 Ras association domain family member 5 gene DOID:9074 systemic lupus erythematosus ISO RGD:733134 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12286534 RASSF5 Ras association domain family member 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12286547 SEM1 SEM1 26S proteasome subunit gene DOID:1749 squamous cell carcinoma ISO RGD:1349756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18922899 12286547 SEM1 SEM1 26S proteasome subunit gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12286555 TCP11L1 t-complex 11 like 1 gene DOID:1059 intellectual disability ISO RGD:1602322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12286555 TCP11L1 t-complex 11 like 1 gene DOID:630 genetic disease ISO RGD:1602322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12286575 EWSR1 EWS RNA binding protein 1 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1316345 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 12286575 EWSR1 EWS RNA binding protein 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1316345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12286575 EWSR1 EWS RNA binding protein 1 gene DOID:3369 Ewing sarcoma ISO RGD:1316345 D RGD:7240710 20180130 OMIM 12286575 EWSR1 EWS RNA binding protein 1 gene DOID:3369 Ewing sarcoma ISO RGD:1316345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ewing sarcoma PMID:25741868|PMID:28492532 12286575 EWSR1 EWS RNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1316345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12286575 EWSR1 EWS RNA binding protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27783944 12286575 EWSR1 EWS RNA binding protein 1 gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:1316345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12162413 12286575 EWSR1 EWS RNA binding protein 1 gene DOID:9008192 Neoplastic Processes ISO RGD:1316345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27783944 12286575 EWSR1 EWS RNA binding protein 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1316345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 12286605 CLEC3A C-type lectin domain family 3 member A gene DOID:0060041 autism spectrum disorder ISO RGD:1604398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12286605 CLEC3A C-type lectin domain family 3 member A gene DOID:0080452 developmental and epileptic encephalopathy 28 ISO RGD:1604398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 12286605 CLEC3A C-type lectin domain family 3 member A gene DOID:630 genetic disease ISO RGD:1604398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12286648 CABP2 calcium binding protein 2 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1348224 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:17576681|PMID:22981119|PMID:25741868|PMID:28492532|PMID:30303587|PMID:9536098 12286648 CABP2 calcium binding protein 2 gene DOID:0110537 autosomal recessive nonsyndromic deafness 93 ISO RGD:1348224 D RGD:7240710 20180130 OMIM 12286648 CABP2 calcium binding protein 2 gene DOID:0110537 autosomal recessive nonsyndromic deafness 93 ISO RGD:1348224 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 93 PMID:17576681|PMID:22981119|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30303587|PMID:9536098 12286648 CABP2 calcium binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1348224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12286648 CABP2 calcium binding protein 2 gene DOID:630 genetic disease ISO RGD:1348224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12286648 CABP2 calcium binding protein 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1348224 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12286648 CABP2 calcium binding protein 2 gene DOID:9004538 Hearing Loss ISO RGD:1348224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 12286648 CABP2 calcium binding protein 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1348224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12286658 TULP3 TUB like protein 3 gene DOID:0080322 polycystic kidney disease ISO RGD:1557674 D RGD:9068941 20220825 MouseDO 12286658 TULP3 TUB like protein 3 gene DOID:630 genetic disease ISO RGD:1348382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:35397207 12286658 TULP3 TUB like protein 3 gene DOID:9006301 HEPATORENOCARDIAC DEGENERATIVE FIBROSIS ISO RGD:1348382 D RGD:7240710 20220810 OMIM 12286658 TULP3 TUB like protein 3 gene DOID:9006301 HEPATORENOCARDIAC DEGENERATIVE FIBROSIS ISO RGD:1348382 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HEPATORENOCARDIAC DEGENERATIVE FIBROSIS PMID:25741868|PMID:35397207 12286658 TULP3 TUB like protein 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1348382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12286658 TULP3 TUB like protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12286699 SNORC secondary ossification center associated regulator of chondrocyte maturation gene DOID:0060476 Perlman syndrome ISO RGD:1606085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12286699 SNORC secondary ossification center associated regulator of chondrocyte maturation gene DOID:0110991 Joubert syndrome 22 ISO RGD:1606085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12286706 VENTX VENT homeobox gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1354153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12286706 VENTX VENT homeobox gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1354153 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30431698 12286706 VENTX VENT homeobox gene DOID:630 genetic disease ISO RGD:1354153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12286713 PLIN2 perilipin 2 gene DOID:630 genetic disease ISO RGD:730882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12286713 PLIN2 perilipin 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:730882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12286713 PLIN2 perilipin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12286713 PLIN2 perilipin 2 gene DOID:9006599 Hypertriglyceridemia ISO RGD:730883 D RGD:9068941 20200609 RGD associated with Obesity PMID:17484887|REF_RGD_ID:1625752 12286713 PLIN2 perilipin 2 gene DOID:9007692 Insulin Resistance ISO RGD:730883 D RGD:9068941 20200609 RGD associated with Obesity PMID:17484887|REF_RGD_ID:1625752 12286713 PLIN2 perilipin 2 gene DOID:9452 fatty liver disease ISO RGD:730882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16439473 12286713 PLIN2 perilipin 2 gene DOID:9452 fatty liver disease ISO RGD:730883 D RGD:9068941 20200609 RGD associated with Obesity PMID:17484887|REF_RGD_ID:1625752 12286733 PAQR9 progestin and adipoQ receptor family member 9 gene DOID:630 genetic disease ISO RGD:1323015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12286733 PAQR9 progestin and adipoQ receptor family member 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323015 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12286807 PNP purine nucleoside phosphorylase gene DOID:0080600 COVID-19 ISO RGD:1349909 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12286807 PNP purine nucleoside phosphorylase gene DOID:11476 osteoporosis ISO RGD:1349909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12286807 PNP purine nucleoside phosphorylase gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1349909 D RGD:7240710 20180130 OMIM 12286807 PNP purine nucleoside phosphorylase gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1349909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:11453975|PMID:12483996|PMID:1384322|PMID:15571269|PMID:1560016|PMID:16199547|PMID:17407325|PMID:17576681|PMID:19759001|PMID:22132981|PMID:22578971|PMID:22669887|PMID:24033266|PMID:24767876|PMID:25741868|PMID:28492532|PMID:3029074|PMID:30778343|PMID:31130284|PMID:32514656|PMID:32695102|PMID:8931706|PMID:9067751|PMID:9536098|PMID:9737781 12286807 PNP purine nucleoside phosphorylase gene DOID:627 severe combined immunodeficiency ISO RGD:1349909 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:1384322|PMID:22132981|PMID:25741868|PMID:28492532|PMID:9067751 12286807 PNP purine nucleoside phosphorylase gene DOID:653 purine-pyrimidine metabolic disorder ISO RGD:1349909 D RGD:9068941 20200609 RGD nucleoside phosphorylase deficiency, OMIM:164050 PMID:3029074|REF_RGD_ID:1600263 12286807 PNP purine nucleoside phosphorylase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 12286807 PNP purine nucleoside phosphorylase gene DOID:9007964 Arsenic Poisoning ISO RGD:1349909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18414634 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:22018461|REF_RGD_ID:7495770 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0060180 colitis treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:17543437|REF_RGD_ID:2298659 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0090039 torsion dystonia 6 ISO RGD:733968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0111959 immunodeficiency 15B ISO RGD:733968 D RGD:7240710 20180130 OMIM 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0111959 immunodeficiency 15B ISO RGD:733968 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:10195897|PMID:17576681|PMID:24033266|PMID:24369075|PMID:24679846|PMID:25139357|PMID:25216719|PMID:25741868|PMID:26122175|PMID:28492532|PMID:30335863|PMID:32117824|PMID:9536098 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0111960 immunodeficiency 15A ISO RGD:733968 D RGD:7240710 20190315 OMIM 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0111960 immunodeficiency 15A ISO RGD:733968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15a PMID:24033266|PMID:25741868|PMID:28492532|PMID:30337470 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10283 prostate cancer ISO RGD:733968 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:prostate gland PMID:26435478|REF_RGD_ID:13504773 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10487 Hirschsprung's disease ISO RGD:733968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10603 glucose intolerance ISO RGD:733968 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31095431 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:621375 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:24380241|REF_RGD_ID:10045941 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10763 hypertension ISO RGD:733968 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:27659729|PMID:32147540 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10763 hypertension treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:19246475|REF_RGD_ID:7495780 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:1612 breast cancer susceptibility ISO RGD:733968 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:22562547|REF_RGD_ID:6484541 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:178 vascular disease ISO RGD:733968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29036520 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:219 colon cancer ISO RGD:621375 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased expression:large intestine mucosa PMID:20143392|REF_RGD_ID:7495781 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:224 transient cerebral ischemia treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:24261295|REF_RGD_ID:7495766 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:733968 D RGD:9068941 20200609 RGD PMID:27196761|REF_RGD_ID:13504772 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:2723 dermatitis ISO RGD:733968 D RGD:9068941 20200609 RGD PMID:20200541|REF_RGD_ID:7495759 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:2723 dermatitis ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:12075355|REF_RGD_ID:7495756 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:3498 pancreatic ductal adenocarcinoma susceptibility ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:22264792|REF_RGD_ID:13838741 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:16286924|REF_RGD_ID:10045955 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:3571 liver cancer ISO RGD:733968 D RGD:9068941 20220811 RGD human cells in mouse model PMID:27367027|REF_RGD_ID:153305911 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:4989 pancreatitis treatment ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:17525799|REF_RGD_ID:10045954 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:552 pneumonia ISO RGD:733968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31095431 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:552 pneumonia treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:20080200|REF_RGD_ID:7495767 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:627 severe combined immunodeficiency ISO RGD:733968 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:630 genetic disease ISO RGD:733968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:767 muscular atrophy treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:18827022|REF_RGD_ID:7495773 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:8893 psoriasis ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:16397523|REF_RGD_ID:7495754 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:24489934|REF_RGD_ID:10045942 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9002221 Hyperplasia ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:15939736|REF_RGD_ID:7495757 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9002457 Experimental Arthritis ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:19652024|REF_RGD_ID:7495778 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9002457 Experimental Arthritis ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:19652024|REF_RGD_ID:7495778 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9002457 Experimental Arthritis treatment ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:21087862|REF_RGD_ID:7495772 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9002532 Neonatal Hyperbilirubinemia ISO RGD:733968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28167773 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9004078 Pancreatic Intraepithelial Neoplasia disease_progression ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:22056382|REF_RGD_ID:13838742 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9004078 Pancreatic Intraepithelial Neoplasia severity ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:22406536|REF_RGD_ID:13838740 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9004118 Experimental Melanoma ISO RGD:733968 D RGD:9068941 20200609 RGD PMID:19276165|REF_RGD_ID:7495758 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9004283 Transplant Rejection ISO RGD:621375 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:19249479|REF_RGD_ID:7495769 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9004283 Transplant Rejection treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:20500684|REF_RGD_ID:4892204 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9005372 Inflammation ISO RGD:733968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29036520 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621375 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver PMID:20362663|REF_RGD_ID:7495777 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:19546526|REF_RGD_ID:7495779 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9007692 Insulin Resistance ISO RGD:733968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29036520 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9007692 Insulin Resistance ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:11533494|REF_RGD_ID:10045961 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9007692 Insulin Resistance treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:19073766|REF_RGD_ID:7495768 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:733968 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:10195897|PMID:17576681|PMID:24033266|PMID:24369075|PMID:24679846|PMID:25139357|PMID:25216719|PMID:25741868|PMID:26122175|PMID:28492532|PMID:30335863|PMID:32117824|PMID:9536098 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9352 type 2 diabetes mellitus ISO RGD:733968 D RGD:9068941 20200609 RGD PMID:15685173|REF_RGD_ID:10045952 12286818 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9970 obesity ISO RGD:733969 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:15685173|REF_RGD_ID:10045952 12286851 RPS28 ribosomal protein S28 gene DOID:0080490 mucolipidosis type IV ISO RGD:735338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 12286851 RPS28 ribosomal protein S28 gene DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ISO RGD:735338 D RGD:7240710 20180130 OMIM 12286851 RPS28 ribosomal protein S28 gene DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ISO RGD:735338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis PMID:24942156|PMID:25741868 12286851 RPS28 ribosomal protein S28 gene DOID:12849 autistic disorder ISO RGD:735338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12286851 RPS28 ribosomal protein S28 gene DOID:630 genetic disease ISO RGD:735338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12286851 RPS28 ribosomal protein S28 gene DOID:9004657 Weight Gain ISO RGD:735338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12286859 ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1605541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12286859 ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 gene DOID:0080600 COVID-19 ISO RGD:1605541 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12286859 ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 gene DOID:10283 prostate cancer ISO RGD:1605541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12286859 ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 gene DOID:630 genetic disease ISO RGD:1605541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12286859 ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1605541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 12286869 OAF out at first homolog gene DOID:0060017 CD3epsilon deficiency ISO RGD:1602422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12286869 OAF out at first homolog gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1602422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12286869 OAF out at first homolog gene DOID:0080690 RASopathy ISO RGD:1602422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12286869 OAF out at first homolog gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1602422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12286869 OAF out at first homolog gene DOID:0111971 immunodeficiency 18 ISO RGD:1602422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12286869 OAF out at first homolog gene DOID:0111972 immunodeficiency 19 ISO RGD:1602422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12286869 OAF out at first homolog gene DOID:0111973 immunodeficiency 17 ISO RGD:1602422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12286869 OAF out at first homolog gene DOID:5419 schizophrenia ISO RGD:1602422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12286869 OAF out at first homolog gene DOID:630 genetic disease ISO RGD:1602422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12286869 OAF out at first homolog gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1602422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12286869 OAF out at first homolog gene DOID:9007661 Dwarfism ISO RGD:1602422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12286878 NUDT1 nudix hydrolase 1 gene DOID:10652 Alzheimer's disease ISO RGD:731881 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:21538080|REF_RGD_ID:10449033 12286878 NUDT1 nudix hydrolase 1 gene DOID:10763 hypertension ISO RGD:621080 D RGD:9068941 20200609 RGD PMID:17280880|REF_RGD_ID:10449166 12286878 NUDT1 nudix hydrolase 1 gene DOID:630 genetic disease ISO RGD:731881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12286878 NUDT1 nudix hydrolase 1 gene DOID:9001191 Cadmium Poisoning ISO RGD:621080 D RGD:9068941 20200609 RGD PMID:11817101|REF_RGD_ID:633232 12286878 NUDT1 nudix hydrolase 1 gene DOID:9002644 Premature Aging ISO RGD:731882 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:hippocampus PMID:21538080|REF_RGD_ID:10449033 12286878 NUDT1 nudix hydrolase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:621080 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:12036445|REF_RGD_ID:724605 12286878 NUDT1 nudix hydrolase 1 gene DOID:9008691 Liver Injury ISO RGD:621080 D RGD:9068941 20200609 RGD PMID:9547863|REF_RGD_ID:10449034 12286886 CHI3L1 chitinase 3 like 1 gene DOID:0050685 small cell carcinoma severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:15541818|REF_RGD_ID:4892640 12286886 CHI3L1 chitinase 3 like 1 gene DOID:0080199 colorectal carcinoma severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:12124825|REF_RGD_ID:4892637 12286886 CHI3L1 chitinase 3 like 1 gene DOID:0080600 COVID-19 ISO RGD:732419 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12286886 CHI3L1 chitinase 3 like 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:732419 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12286886 CHI3L1 chitinase 3 like 1 gene DOID:10286 prostate carcinoma severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:16372331|REF_RGD_ID:4892641 12286886 CHI3L1 chitinase 3 like 1 gene DOID:10591 pre-eclampsia ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:umbilical cord, serum (human) PMID:18054022|REF_RGD_ID:4892664 12286886 CHI3L1 chitinase 3 like 1 gene DOID:10763 hypertension ISO RGD:620874 D RGD:9068941 20200609 RGD mRNA:increased expression:brainstem, solitary tract nucleus (rat) PMID:18703386|REF_RGD_ID:4892597 12286886 CHI3L1 chitinase 3 like 1 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:732419 D RGD:9068941 20200609 RGD protein:decreased secretion:lung, secretion (human) PMID:20558631|REF_RGD_ID:4892651 12286886 CHI3L1 chitinase 3 like 1 gene DOID:13375 temporal arteritis ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:10616010|REF_RGD_ID:5024918 12286886 CHI3L1 chitinase 3 like 1 gene DOID:13406 pulmonary sarcoidosis ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:15763444|REF_RGD_ID:4892634 12286886 CHI3L1 chitinase 3 like 1 gene DOID:1380 endometrial cancer severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:17023034|REF_RGD_ID:4892642 12286886 CHI3L1 chitinase 3 like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:732419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12286886 CHI3L1 chitinase 3 like 1 gene DOID:1612 breast cancer severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:12889595|REF_RGD_ID:4892603 12286886 CHI3L1 chitinase 3 like 1 gene DOID:1909 melanoma severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:16456816|REF_RGD_ID:4892643 12286886 CHI3L1 chitinase 3 like 1 gene DOID:2349 arteriosclerosis ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased expression:artery, plaque, macrophage (human) PMID:10073974|REF_RGD_ID:4892604 12286886 CHI3L1 chitinase 3 like 1 gene DOID:2394 ovarian cancer severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:12883737|REF_RGD_ID:4892638 12286886 CHI3L1 chitinase 3 like 1 gene DOID:2841 asthma ISO RGD:732419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 7 PMID:18403759 12286886 CHI3L1 chitinase 3 like 1 gene DOID:2841 asthma susceptibility ISO RGD:732419 D RGD:7240710 20190502 OMIM 12286886 CHI3L1 chitinase 3 like 1 gene DOID:3068 glioblastoma ISO RGD:732419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21029458 12286886 CHI3L1 chitinase 3 like 1 gene DOID:3068 glioblastoma ISO RGD:732419 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, tumor (human) PMID:11161003|REF_RGD_ID:4892621 12286886 CHI3L1 chitinase 3 like 1 gene DOID:3070 high grade glioma ISO RGD:732419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20506295 12286886 CHI3L1 chitinase 3 like 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:20656949|REF_RGD_ID:4892658 12286886 CHI3L1 chitinase 3 like 1 gene DOID:3371 chondrosarcoma ISO RGD:732419 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor (human) PMID:12598313|REF_RGD_ID:4892624 12286886 CHI3L1 chitinase 3 like 1 gene DOID:3393 coronary artery disease ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:17627189|REF_RGD_ID:4892665 12286886 CHI3L1 chitinase 3 like 1 gene DOID:3770 pulmonary fibrosis severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum, lung (human) PMID:20888745|REF_RGD_ID:4892653 12286886 CHI3L1 chitinase 3 like 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:20564116|REF_RGD_ID:4892660 12286886 CHI3L1 chitinase 3 like 1 gene DOID:418 systemic scleroderma ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:16195162|REF_RGD_ID:4892666 12286886 CHI3L1 chitinase 3 like 1 gene DOID:5419 schizophrenia ISO RGD:732419 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 12286886 CHI3L1 chitinase 3 like 1 gene DOID:5419 schizophrenia susceptibility ISO RGD:732419 D RGD:7240710 20230505 OMIM 12286886 CHI3L1 chitinase 3 like 1 gene DOID:5844 myocardial infarction ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:18480670|REF_RGD_ID:4892633 12286886 CHI3L1 chitinase 3 like 1 gene DOID:6000 congestive heart failure ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:19961288|REF_RGD_ID:4892629 12286886 CHI3L1 chitinase 3 like 1 gene DOID:630 genetic disease ISO RGD:732419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12286886 CHI3L1 chitinase 3 like 1 gene DOID:7148 rheumatoid arthritis severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:10461474|REF_RGD_ID:4892605 12286886 CHI3L1 chitinase 3 like 1 gene DOID:8398 osteoarthritis ISO RGD:732419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12286886 CHI3L1 chitinase 3 like 1 gene DOID:850 lung disease ISO RGD:1552317 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:20558631|REF_RGD_ID:4892651 12286886 CHI3L1 chitinase 3 like 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:10515841|REF_RGD_ID:4892626 12286886 CHI3L1 chitinase 3 like 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:732419 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12286886 CHI3L1 chitinase 3 like 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:732419 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor (human) PMID:11752453|REF_RGD_ID:4892620 12286886 CHI3L1 chitinase 3 like 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21029458 12286886 CHI3L1 chitinase 3 like 1 gene DOID:9119 acute myeloid leukemia severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:16361549|REF_RGD_ID:4892644 12286886 CHI3L1 chitinase 3 like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12286886 CHI3L1 chitinase 3 like 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:21143859|REF_RGD_ID:4892628 12286886 CHI3L1 chitinase 3 like 1 gene DOID:9470 bacterial meningitis severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:cerebrospinal fluid (human) PMID:11986266|REF_RGD_ID:4892662 12286886 CHI3L1 chitinase 3 like 1 gene DOID:9538 multiple myeloma severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:16930142|REF_RGD_ID:4892645 12286886 CHI3L1 chitinase 3 like 1 gene DOID:9675 pulmonary emphysema ISO RGD:1552317 D RGD:9068941 20200609 RGD PMID:20656949|REF_RGD_ID:4892658 12286886 CHI3L1 chitinase 3 like 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:18957531|REF_RGD_ID:4892627 12286904 ISCA2 iron-sulfur cluster assembly 2 gene DOID:0070330 multiple mitochondrial dysfunctions syndrome ISO RGD:1319881 D RGD:8554872 20220621 ClinVar ClinVar Annotator: match by term: Fatal multiple mitochondrial dysfunctions syndrome PMID:25434003|PMID:25539947|PMID:25558065|PMID:25741868|PMID:28492532|PMID:29122497|PMID:29297947|PMID:29470032 12286904 ISCA2 iron-sulfur cluster assembly 2 gene DOID:0080136 multiple mitochondrial dysfunctions syndrome 4 ISO RGD:1319881 D RGD:7240710 20180130 OMIM 12286904 ISCA2 iron-sulfur cluster assembly 2 gene DOID:0080136 multiple mitochondrial dysfunctions syndrome 4 ISO RGD:1319881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 4 PMID:25434003|PMID:25539947|PMID:25558065|PMID:25741868|PMID:28492532|PMID:29122497|PMID:29297947|PMID:29359243|PMID:29470032 12286904 ISCA2 iron-sulfur cluster assembly 2 gene DOID:1059 intellectual disability ISO RGD:1319881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12286904 ISCA2 iron-sulfur cluster assembly 2 gene DOID:630 genetic disease ISO RGD:1319881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12286904 ISCA2 iron-sulfur cluster assembly 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1319881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25434003|PMID:25539947|PMID:25558065|PMID:25741868|PMID:28492532|PMID:29122497|PMID:29297947|PMID:29470032 12286912 KRTDAP keratinocyte differentiation associated protein gene DOID:0110222 Brugada syndrome 5 ISO RGD:1603836 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12286912 KRTDAP keratinocyte differentiation associated protein gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12286912 KRTDAP keratinocyte differentiation associated protein gene DOID:543 dystonia ISO RGD:1603836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12286912 KRTDAP keratinocyte differentiation associated protein gene DOID:630 genetic disease ISO RGD:1603836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12286923 CCDC127 coiled-coil domain containing 127 gene DOID:630 genetic disease ISO RGD:1603363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12286934 PRM2 protamine 2 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:737276 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 12286934 PRM2 protamine 2 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:737276 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 12286934 PRM2 protamine 2 gene DOID:5812 MHC class II deficiency ISO RGD:737276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12286934 PRM2 protamine 2 gene DOID:630 genetic disease ISO RGD:737276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12286940 CRNN cornulin gene DOID:0111940 immunodeficiency 42 ISO RGD:1323410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12286940 CRNN cornulin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1323410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12286940 CRNN cornulin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1323410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12286940 CRNN cornulin gene DOID:1540 parathyroid carcinoma ISO RGD:1323410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12286940 CRNN cornulin gene DOID:5812 MHC class II deficiency ISO RGD:1323410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12286940 CRNN cornulin gene DOID:630 genetic disease ISO RGD:1323410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12286940 CRNN cornulin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12286949 ISOC1 isochorismatase domain containing 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347473 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12286949 ISOC1 isochorismatase domain containing 1 gene DOID:630 genetic disease ISO RGD:1347473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12286949 ISOC1 isochorismatase domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12286949 ISOC1 isochorismatase domain containing 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347473 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12286959 LMNTD1 lamin tail domain containing 1 gene DOID:630 genetic disease ISO RGD:1602644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12286959 LMNTD1 lamin tail domain containing 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1602644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15064703 12286979 GARS1 glycyl-tRNA synthetase 1 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:25741868|PMID:28492532 12286979 GARS1 glycyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:10732809|PMID:12690580|PMID:16014653|PMID:17035524|PMID:17101916|PMID:17544401|PMID:17576681|PMID:17595294|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24088041|PMID:24354524|PMID:24604904|PMID:24669931|PMID:25058219|PMID:25168514|PMID:25356970|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26392352|PMID:26467025|PMID:26503042|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27790088|PMID:27862672|PMID:28160950|PMID:28166811|PMID:28492532|PMID:28594869|PMID:28708278|PMID:29520015|PMID:29648643|PMID:30643024|PMID:31591847|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32181591|PMID:8872480|PMID:9536098 12286979 GARS1 glycyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317292 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17544401|PMID:17576681|PMID:17595294|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24088041|PMID:24354524|PMID:24604904|PMID:24627108|PMID:24669931|PMID:25168514|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26392352|PMID:26467025|PMID:26503042|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27790088|PMID:27862672|PMID:28160950|PMID:28166811|PMID:28492532|PMID:28594869|PMID:29520015|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32028661|PMID:32181591|PMID:32376792|PMID:32403337|PMID:8872480|PMID:9536098 12286979 GARS1 glycyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317292 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17545306|PMID:17576681|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24354524|PMID:24604904|PMID:24627108|PMID:25058219|PMID:25168514|PMID:25356970|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26392352|PMID:26467025|PMID:26503042|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27790088|PMID:27862672|PMID:28160950|PMID:28492532|PMID:28594869|PMID:28708278|PMID:29520015|PMID:29648643|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31628756|PMID:31785789|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32181591|PMID:32376792|PMID:32403337|PMID:33067402|PMID:8872480|PMID:9536098 12286979 GARS1 glycyl-tRNA synthetase 1 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 12286979 GARS1 glycyl-tRNA synthetase 1 gene DOID:0110164 Charcot-Marie-Tooth disease type 2D ISO RGD:1317292 D RGD:7240710 20180130 OMIM 12286979 GARS1 glycyl-tRNA synthetase 1 gene DOID:0110164 Charcot-Marie-Tooth disease type 2D ISO RGD:1317292 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2D PMID:10732809|PMID:12690580|PMID:16534118|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17545306|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:24604904|PMID:25168514|PMID:25326637|PMID:25476837|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26467025|PMID:26503042|PMID:26633545|PMID:27008886|PMID:27582484|PMID:27790088|PMID:28160950|PMID:28492532|PMID:28594869|PMID:29648643|PMID:31173493|PMID:32181591|PMID:32376792|PMID:32403337|PMID:8872480|PMID:9879677 12286979 GARS1 glycyl-tRNA synthetase 1 gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy PMID:17101916|PMID:20301420|PMID:22462675|PMID:25168514 12286979 GARS1 glycyl-tRNA synthetase 1 gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:25635128 12286979 GARS1 glycyl-tRNA synthetase 1 gene DOID:0111203 distal hereditary motor neuronopathy type 5 ISO RGD:1317292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 5 PMID:25741868|PMID:28492532 12286979 GARS1 glycyl-tRNA synthetase 1 gene DOID:0111204 distal hereditary motor neuronopathy type 5A ISO RGD:1317292 D RGD:7240710 20180130 OMIM 12286979 GARS1 glycyl-tRNA synthetase 1 gene DOID:0111204 distal hereditary motor neuronopathy type 5A ISO RGD:1317292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HMN 5A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A PMID:12690580|PMID:16014653|PMID:16534118|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17545306|PMID:17595294|PMID:19329989|PMID:20301420|PMID:24604904|PMID:24627108|PMID:25168514|PMID:25476837|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26503042|PMID:27008886|PMID:27582484|PMID:27790088|PMID:28160950|PMID:28492532|PMID:28594869|PMID:29648643|PMID:29858556|PMID:31628756|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32376792|PMID:8541851|PMID:9879677 12286979 GARS1 glycyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1317292 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16534118|PMID:17035524|PMID:17101916|PMID:17544401|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24088041|PMID:24354524|PMID:24604904|PMID:24627108|PMID:24669931|PMID:25168514|PMID:25420567|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26467025|PMID:26503042|PMID:26517670|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27862672|PMID:28492532|PMID:28594869|PMID:29520015|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31827005|PMID:31832804|PMID:31985473|PMID:8541851|PMID:8872480|PMID:9879677 12286979 GARS1 glycyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1317292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16534118|PMID:17035524|PMID:17101916|PMID:17544401|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24088041|PMID:24354524|PMID:24604904|PMID:24627108|PMID:24669931|PMID:25168514|PMID:25420567|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26467025|PMID:26503042|PMID:26517670|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27862672|PMID:28492532|PMID:28594869|PMID:29520015|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31827005|PMID:31832804|PMID:31985473|PMID:8541851|PMID:8872480|PMID:9879677 12286979 GARS1 glycyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1317292 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16534118|PMID:17035524|PMID:17101916|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24354524|PMID:24604904|PMID:24627108|PMID:25168514|PMID:25420567|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26467025|PMID:26503042|PMID:26517670|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27862672|PMID:28492532|PMID:28594869|PMID:29520015|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31827005|PMID:31832804|PMID:31985473|PMID:8541851|PMID:8872480|PMID:9879677 12286979 GARS1 glycyl-tRNA synthetase 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:12690580|PMID:16014653|PMID:16534118|PMID:16769947|PMID:17101916|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:24604904|PMID:25168514|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26392352|PMID:26467025|PMID:27582484|PMID:27790088|PMID:28160950|PMID:28166811|PMID:28492532|PMID:28594869|PMID:29520015|PMID:29648643|PMID:31827005|PMID:31832804|PMID:31985473 12286979 GARS1 glycyl-tRNA synthetase 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1317292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:12690580|PMID:16014653|PMID:16534118|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17545306|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:24604904|PMID:24627108|PMID:25168514|PMID:25476837|PMID:25741868|PMID:26467025|PMID:27008886|PMID:27582484|PMID:27790088|PMID:28160950|PMID:28492532|PMID:28594869|PMID:29648643|PMID:29858556|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32376792 12286979 GARS1 glycyl-tRNA synthetase 1 gene DOID:231 motor neuron disease ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Motor neuron disease 12286979 GARS1 glycyl-tRNA synthetase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12286979 GARS1 glycyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1317292 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16014653|PMID:16199547|PMID:17035524|PMID:17101916|PMID:19329989|PMID:20301420|PMID:24078732|PMID:24627108|PMID:25168514|PMID:25614874|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26752306|PMID:27582484|PMID:27790088|PMID:28160950|PMID:28492532|PMID:28594869|PMID:28675565|PMID:29858556|PMID:31785789|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32376792|PMID:32403337 12286979 GARS1 glycyl-tRNA synthetase 1 gene DOID:7319 axonal neuropathy ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy 12286979 GARS1 glycyl-tRNA synthetase 1 gene DOID:9004357 Spinal Muscular Atrophy, Infantile, James Type ISO RGD:1317292 D RGD:7240710 20201021 OMIM 12286979 GARS1 glycyl-tRNA synthetase 1 gene DOID:9004357 Spinal Muscular Atrophy, Infantile, James Type ISO RGD:1317292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, infantile, James type PMID:17101916|PMID:20301420|PMID:22462675|PMID:24604904|PMID:25168514|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31985473|PMID:32181591 12286979 GARS1 glycyl-tRNA synthetase 1 gene DOID:9008305 Talipes Cavus ISO RGD:1317292 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pes cavus 12287057 PTGER3 prostaglandin E receptor 3 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:731378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21966456 12287057 PTGER3 prostaglandin E receptor 3 gene DOID:0060001 withdrawal disorder treatment ISO RGD:3435 D RGD:9068941 20200609 RGD PMID:10708732|REF_RGD_ID:10043351 12287057 PTGER3 prostaglandin E receptor 3 gene DOID:0060500 drug allergy ISO RGD:731378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20587336 12287057 PTGER3 prostaglandin E receptor 3 gene DOID:0060903 thrombosis ISO RGD:731378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17242161 12287057 PTGER3 prostaglandin E receptor 3 gene DOID:1059 intellectual disability ISO RGD:731378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12287057 PTGER3 prostaglandin E receptor 3 gene DOID:10976 membranous glomerulonephritis ISO RGD:3435 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (rat) PMID:14636300|REF_RGD_ID:10043359 12287057 PTGER3 prostaglandin E receptor 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:731378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12287057 PTGER3 prostaglandin E receptor 3 gene DOID:11656 cicatricial pemphigoid ISO RGD:731378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21966456 12287057 PTGER3 prostaglandin E receptor 3 gene DOID:127 leiomyoma ISO RGD:731378 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine myometrium (human) PMID:17407572|REF_RGD_ID:10043352 12287057 PTGER3 prostaglandin E receptor 3 gene DOID:1591 renovascular hypertension ISO RGD:3435 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:16788145|REF_RGD_ID:1642130 12287057 PTGER3 prostaglandin E receptor 3 gene DOID:219 colon cancer ISO RGD:3435 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon mucosa (rat) PMID:15247185|REF_RGD_ID:9850265 12287057 PTGER3 prostaglandin E receptor 3 gene DOID:2841 asthma treatment ISO RGD:3435 D RGD:9068941 20200609 RGD PMID:23221044|REF_RGD_ID:10043366 12287057 PTGER3 prostaglandin E receptor 3 gene DOID:630 genetic disease ISO RGD:731378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287057 PTGER3 prostaglandin E receptor 3 gene DOID:9000197 Edema treatment ISO RGD:3435 D RGD:9068941 20200609 RGD PMID:8138964|REF_RGD_ID:10043358 12287057 PTGER3 prostaglandin E receptor 3 gene DOID:9000972 Fever ISO RGD:731379 D RGD:9068941 20200609 RGD PMID:9751056|REF_RGD_ID:737727 12287057 PTGER3 prostaglandin E receptor 3 gene DOID:9000998 Brain Injuries ISO RGD:3435 D RGD:9068941 20200609 RGD protein:increased expression:striatum, microglia (rat) PMID:15234107|REF_RGD_ID:9850280 12287057 PTGER3 prostaglandin E receptor 3 gene DOID:9002211 Hyperalgesia ISO RGD:3435 D RGD:9068941 20200609 RGD protein:increased expression:lumbar spinal cord dorsal horn (rat) PMID:17413918|REF_RGD_ID:5688169 12287057 PTGER3 prostaglandin E receptor 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3435 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:placenta (rat) PMID:15990166|REF_RGD_ID:10043194 12287057 PTGER3 prostaglandin E receptor 3 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:3435 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:12821538|REF_RGD_ID:9850261 12287057 PTGER3 prostaglandin E receptor 3 gene DOID:9002928 Colonic Neoplasms severity ISO RGD:731379 D RGD:9068941 20200609 RGD PMID:15247185|REF_RGD_ID:9850265 12287057 PTGER3 prostaglandin E receptor 3 gene DOID:9006937 NSAID-Enteropathy treatment ISO RGD:3435 D RGD:9068941 20200609 RGD PMID:11991626|REF_RGD_ID:10003093 12287057 PTGER3 prostaglandin E receptor 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3435 D RGD:9068941 20200609 RGD PMID:10193764|REF_RGD_ID:10043342 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0001816 angiosarcoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0001816 angiosarcoma ISO RGD:731438 D RGD:9068941 20220310 RGD associated with neoplasms, radiation-induced; DNA:amplification: (human) PMID:26440310|REF_RGD_ID:151665099 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27356265 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0050855 renal fibrosis ISO RGD:10940 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction; protein:increased expression:kidney (mouse) PMID:19297557|REF_RGD_ID:7207450 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0050902 medulloblastoma ISO RGD:731438 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:19270706|PMID:31694585 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0050908 myelodysplastic syndrome ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10914558 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:731438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:25157968|PMID:26619011 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0060318 acute promyelocytic leukemia ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA:increased expression:promyelocyte: PMID:21059853|REF_RGD_ID:11532756 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0060318 acute promyelocytic leukemia onset ISO RGD:731438 D RGD:9068941 20200609 RGD PMID:21059853|REF_RGD_ID:11532756 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0080322 polycystic kidney disease ISO RGD:10940 D RGD:9068941 20200609 RGD PMID:9422539|REF_RGD_ID:7207451 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0080322 polycystic kidney disease ISO RGD:3130 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:21119215|REF_RGD_ID:7207426 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0080600 COVID-19 ISO RGD:731438 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:10940 D RGD:9068941 20200609 RGD PMID:22120021|REF_RGD_ID:7207416 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0110858 polycystic kidney disease 1 ISO RGD:10940 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (mouse) PMID:16449663|REF_RGD_ID:7207779 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0110858 polycystic kidney disease 1 ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (human) PMID:19346236|REF_RGD_ID:7207447 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:10940 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (mouse) PMID:3479800|REF_RGD_ID:7207453 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:10283 prostate cancer severity ISO RGD:731438 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland (human) PMID:20140016|REF_RGD_ID:7240541 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:10283 prostate cancer susceptibility ISO RGD:731438 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS1-355T>A rs3891248 (human) PMID:18483343|REF_RGD_ID:7207432 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:1040 chronic lymphocytic leukemia disease_progression ISO RGD:731438 D RGD:9068941 20200609 RGD PMID:20956327|REF_RGD_ID:11340590 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:10964 cholesteatoma of middle ear ISO RGD:731438 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cholesteatoma of middle ear PMID:27993330|PMID:8220424 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:11054 urinary bladder cancer ISO RGD:10940 D RGD:9068941 20200609 RGD PMID:22028816|REF_RGD_ID:7207418 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:11054 urinary bladder cancer ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2228319 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731438 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder urothelium (human) PMID:20939013|REF_RGD_ID:7207427 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:731438 D RGD:9068941 20200609 RGD DNA:snp, haplotype:enhancer:g.-30772G>T rs9642880 (human) PMID:23284801|REF_RGD_ID:7207401 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:1107 esophageal carcinoma ISO RGD:731438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:25157968|PMID:26619011 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:11132 prostatic hypertrophy treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22684563|REF_RGD_ID:7240520 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:11476 osteoporosis ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22704852|REF_RGD_ID:7240519 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22000973 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:127 leiomyoma treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22302692|REF_RGD_ID:6483544 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:1324 lung cancer treatment ISO RGD:731438 D RGD:9068941 20211210 RGD human cells in mouse model PMID:32051824|REF_RGD_ID:150530284 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:13543 hyperparathyroidism ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA:increased expression:parathyroid gland (human) PMID:17047023|REF_RGD_ID:7207778 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:14566 disease of cellular proliferation ISO RGD:731438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:25157968|PMID:26619011|PMID:8220424 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:731438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:1612 breast cancer ISO RGD:10940 D RGD:9068941 20220825 MouseDO OMIM:114480 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:1612 breast cancer ISO RGD:3130 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland (rat) PMID:22614519|REF_RGD_ID:7241002 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:1612 breast cancer severity ISO RGD:731438 D RGD:9068941 20200609 RGD DNA:amplification:exon (human) PMID:10706127|REF_RGD_ID:7207838 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:171 neuroectodermal tumor ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8761367 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:1749 squamous cell carcinoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:1781 thyroid gland cancer ISO RGD:10940 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid (mouse) PMID:25246276|REF_RGD_ID:13825129 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:1793 pancreatic cancer ISO RGD:10940 D RGD:9068941 20200609 RGD PMID:22024988|REF_RGD_ID:7240699 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:1793 pancreatic cancer ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25961927 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:1883 hepatitis C ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver PMID:23108410|REF_RGD_ID:14695017 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:1936 atherosclerosis treatment ISO RGD:10940 D RGD:9068941 20230330 RGD PMID:35854140|REF_RGD_ID:242905195 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:2154 nephroblastoma ISO RGD:10940 D RGD:9068941 20200609 RGD protein:increased expression:kidney (mouse) PMID:21983638|REF_RGD_ID:7207786 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:2154 nephroblastoma severity ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor (human) PMID:18260125|REF_RGD_ID:7207840 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:2526 prostate adenocarcinoma ISO RGD:731438 D RGD:9068941 20200609 RGD human gene in mouse model PMID:14522256|PMID:20195545|REF_RGD_ID:7207413|REF_RGD_ID:7207781 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:299 adenocarcinoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:3021 acute kidney failure susceptibility ISO RGD:10940 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:kidney (mouse) PMID:23228991|REF_RGD_ID:7207407 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:305 carcinoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2228319 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:3068 glioblastoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:3213 demyelinating disease treatment ISO RGD:731438 D RGD:9068941 20200609 RGD human gene in rat model; DNA:missense mutation:cds:p.T58A (human) PMID:22076651|REF_RGD_ID:7240694 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:3347 osteosarcoma ISO RGD:731438 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:24646477|PMID:34508303 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:3672 rhabdoid cancer ISO RGD:731438 D RGD:9068941 20200609 RGD protein:increased expression:kidney (human) PMID:20212451|REF_RGD_ID:7207430 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:3908 lung non-small cell carcinoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24688052 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:3910 lung adenocarcinoma ISO RGD:731438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:25157968|PMID:26619011 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:3965 Merkel cell carcinoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25277525 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid PMID:28677753|REF_RGD_ID:13792605 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:4247 coronary restenosis treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:7955204|REF_RGD_ID:10059621 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:4450 renal cell carcinoma ISO RGD:3130 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:18055543|REF_RGD_ID:7207841 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:4450 renal cell carcinoma ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (human) PMID:21982273|REF_RGD_ID:7207793 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:731438 D RGD:9068941 20200609 RGD protein:increased expression:kidney (human) PMID:21881486|REF_RGD_ID:7207420 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:4905 pancreatic carcinoma ISO RGD:10940 D RGD:9068941 20220825 MouseDO OMIM:260350 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:5082 liver cirrhosis ISO RGD:10940 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver PMID:23770341|REF_RGD_ID:14695015 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:5082 liver cirrhosis ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver PMID:23770341|REF_RGD_ID:14695015 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:5394 prolactinoma ISO RGD:3130 D RGD:9068941 20200609 RGD mRNA:increased expression:pituitary gland (rat) PMID:22635680|REF_RGD_ID:7240531 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:10940 D RGD:9068941 20200609 RGD PMID:28089889|REF_RGD_ID:13793389 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:5426 primary ovarian insufficiency ISO RGD:731438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:630 genetic disease ISO RGD:731438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:6432 pulmonary hypertension treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22306243|REF_RGD_ID:7240564 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:674 cleft palate ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859337 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:684 hepatocellular carcinoma ISO RGD:10940 D RGD:9068941 20200609 RGD PMID:21644509|REF_RGD_ID:6903288 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:684 hepatocellular carcinoma ISO RGD:10940 D RGD:9068941 20220825 MouseDO OMIM:114550 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:684 hepatocellular carcinoma ISO RGD:3130 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:22076107|REF_RGD_ID:7240695 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:684 hepatocellular carcinoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12029619|PMID:15565109|PMID:29698666|PMID:9029167 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:684 hepatocellular carcinoma severity ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:22434528|REF_RGD_ID:7241004 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22129741|REF_RGD_ID:7240567 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:769 neuroblastoma ISO RGD:731438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:25157968|PMID:26619011 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:8567 Hodgkin's lymphoma ISO RGD:731438 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Classic Hodgkin lymphoma PMID:32934698 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:8584 Burkitt lymphoma ISO RGD:731438 D RGD:7240710 20180130 OMIM 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:8584 Burkitt lymphoma ISO RGD:731438 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Burkitt lymphoma PMID:25157968|PMID:27993330|PMID:8220424 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:8634 prostate carcinoma in situ ISO RGD:10940 D RGD:9068941 20200609 RGD PMID:10861747|REF_RGD_ID:10059615 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:8923 skin melanoma ISO RGD:731438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:25157968|PMID:26619011 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:10940 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (mouse) PMID:18356167|REF_RGD_ID:7207457 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:10940 D RGD:9068941 20220825 MouseDO 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25877301 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9000117 Esophageal Neoplasms treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22844359|REF_RGD_ID:7207890 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9000217 Stomach Neoplasms ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17171786|PMID:21173787 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9000918 Disease Progression ISO RGD:731438 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:22321834|PMID:28191284|PMID:34510316|PMID:34626302 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22321834 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9001285 Alcoholic Liver Diseases disease_progression ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:26576483|REF_RGD_ID:14695016 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9001285 Alcoholic Liver Diseases severity ISO RGD:10940 D RGD:9068941 20200609 RGD PMID:26576483|REF_RGD_ID:14695016 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:3130 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:3335218|REF_RGD_ID:10059623 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11280770|PMID:18560566|PMID:9079223 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22113495|REF_RGD_ID:7240568 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:731438 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:17173048|PMID:23704919|PMID:29295717|PMID:32512071 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9002762 Ovarian Neoplasms ISO RGD:731438 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:20852632|PMID:34510316 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9002928 Colonic Neoplasms ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189186|PMID:15059925|PMID:18283038|PMID:21081470 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22641368|REF_RGD_ID:7240527 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9003936 Cardiomegaly treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22000973|REF_RGD_ID:7240700 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9004203 Chromosome Breakage ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25933419 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9004283 Transplant Rejection ISO RGD:3130 D RGD:9068941 20200609 RGD cornea PMID:22149555|REF_RGD_ID:7240566 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472269 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9005100 Aberrant Crypt Foci treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:8449605|REF_RGD_ID:13432056 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9005172 Lung Neoplasms ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16289808|PMID:28191284 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:10940 D RGD:9068941 20200609 RGD PMID:22384017|REF_RGD_ID:7240549 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3130 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (rat) PMID:18030501|REF_RGD_ID:7207459 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9006182 Carotid Artery Injuries ISO RGD:3130 D RGD:9068941 20200609 RGD mRNA:increased expression:carotid artery (rat) PMID:22546228|REF_RGD_ID:7240535 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:23178522|PMID:8113414|REF_RGD_ID:10059612|REF_RGD_ID:7207861 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9006205 Animal Disease Models ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3130 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:17220792|REF_RGD_ID:7207777 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22503847|REF_RGD_ID:7240537 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9007188 Liver Neoplasms ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11532874|PMID:8807143 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12115494|PMID:2543982|PMID:29626521|PMID:31504995 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9007715 Endometrial Neoplasms ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26656844 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (human) PMID:19384955|REF_RGD_ID:7240562 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma severity ISO RGD:731438 D RGD:9068941 20200609 RGD protein:increased expression:kidney (human) PMID:17409424|REF_RGD_ID:7240563 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9008138 Ductal Carcinoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9008443 Colorectal Neoplasms ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9008691 Liver Injury ISO RGD:3130 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:21986297|REF_RGD_ID:7240702 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9008939 Breast Neoplasms ISO RGD:10940 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland (mouse) PMID:20820192|REF_RGD_ID:7207428 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9008939 Breast Neoplasms treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22439659|REF_RGD_ID:7241009 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9119 acute myeloid leukemia ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25956709 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9296 cleft lip ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859337 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9452 fatty liver disease ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24210820 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:731438 D RGD:9068941 20200609 RGD PMID:25784651|REF_RGD_ID:11532748 12287062 MYC MYC proto-oncogene, bHLH transcription factor gene DOID:9970 obesity ISO RGD:3130 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreas (rat) PMID:22421529|REF_RGD_ID:7240547 12287068 MATR3 matrin 3 gene DOID:0060212 amyotrophic lateral sclerosis type 21 ISO RGD:736833 D RGD:7240710 20180130 OMIM 12287068 MATR3 matrin 3 gene DOID:0060212 amyotrophic lateral sclerosis type 21 ISO RGD:736833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 PMID:17576681|PMID:19344878|PMID:24686783|PMID:25154462|PMID:25185957|PMID:25677933|PMID:25741868|PMID:25771394|PMID:25952333|PMID:26467025|PMID:26493020|PMID:26528920|PMID:26780671|PMID:28029397|PMID:28492532|PMID:29109432|PMID:30015619|PMID:30563574|PMID:31019288|PMID:32028661|PMID:9536098|PMID:9837826 12287068 MATR3 matrin 3 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:736833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12287068 MATR3 matrin 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736833 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12287068 MATR3 matrin 3 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:736833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12287068 MATR3 matrin 3 gene DOID:11720 distal myopathy ISO RGD:736833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal myopathy | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type 12287068 MATR3 matrin 3 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12287068 MATR3 matrin 3 gene DOID:630 genetic disease ISO RGD:736833 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12287068 MATR3 matrin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12287068 MATR3 matrin 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736833 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12287106 MFSD14B major facilitator superfamily domain containing 14B gene DOID:12642 hiatus hernia ISO RGD:1606770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hiatus hernia 12287106 MFSD14B major facilitator superfamily domain containing 14B gene DOID:630 genetic disease ISO RGD:1606770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287125 THOC7 THO complex subunit 7 gene DOID:630 genetic disease ISO RGD:1602206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287143 STARD13 StAR related lipid transfer domain containing 13 gene DOID:0080600 COVID-19 ISO RGD:1344085 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12287143 STARD13 StAR related lipid transfer domain containing 13 gene DOID:630 genetic disease ISO RGD:1344085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287143 STARD13 StAR related lipid transfer domain containing 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12287172 IFT88 intraflagellar transport 88 gene DOID:0050572 cone-rod dystrophy ISO RGD:1320207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868|PMID:28492532 12287172 IFT88 intraflagellar transport 88 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1320207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:29068549 12287172 IFT88 intraflagellar transport 88 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1320207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9362446 12287172 IFT88 intraflagellar transport 88 gene DOID:0110253 cataract 14 multiple types ISO RGD:1320207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 12287172 IFT88 intraflagellar transport 88 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1320207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:28492532 12287172 IFT88 intraflagellar transport 88 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1320207 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:28492532 12287172 IFT88 intraflagellar transport 88 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1320207 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:28492532 12287172 IFT88 intraflagellar transport 88 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1320207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8191288|PMID:8608416 12287172 IFT88 intraflagellar transport 88 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1551338 D RGD:9068941 20220825 MouseDO OMIM:263200 12287172 IFT88 intraflagellar transport 88 gene DOID:10325 silicosis ISO RGD:1309717 D RGD:9068941 20230105 RGD protein:decreased expression:lung PMID:32042332|REF_RGD_ID:155791682 12287172 IFT88 intraflagellar transport 88 gene DOID:1148 polydactyly ISO RGD:1320207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12701101 12287172 IFT88 intraflagellar transport 88 gene DOID:12858 Huntington's disease ISO RGD:1551338 D RGD:9068941 20200609 RGD protein:altered localization:cilia PMID:25989602|REF_RGD_ID:13432581 12287172 IFT88 intraflagellar transport 88 gene DOID:14693 Clouston syndrome ISO RGD:1320207 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia PMID:28492532 12287172 IFT88 intraflagellar transport 88 gene DOID:2121 ectodermal dysplasia ISO RGD:1320207 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 12287172 IFT88 intraflagellar transport 88 gene DOID:61 mitral valve disease ISO RGD:1551338 D RGD:9068941 20220825 MouseDO 12287172 IFT88 intraflagellar transport 88 gene DOID:630 genetic disease ISO RGD:1320207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12287172 IFT88 intraflagellar transport 88 gene DOID:9007188 Liver Neoplasms ISO RGD:1320207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9362446 12287172 IFT88 intraflagellar transport 88 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12287214 CUL2 cullin 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1321670 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983784 12287214 CUL2 cullin 2 gene DOID:630 genetic disease ISO RGD:1321670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287260 CLCN6 chloride voltage-gated channel 6 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1313372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12287260 CLCN6 chloride voltage-gated channel 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1313372 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12287260 CLCN6 chloride voltage-gated channel 6 gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:1313372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 PMID:28492532 12287260 CLCN6 chloride voltage-gated channel 6 gene DOID:0110548 autosomal dominant nonsyndromic deafness 17 ISO RGD:1313372 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 PMID:25741868 12287260 CLCN6 chloride voltage-gated channel 6 gene DOID:0110731 neuronal ceroid lipofuscinosis 3 ISO RGD:1313373 D RGD:9068941 20220825 MouseDO OMIM:204200 12287260 CLCN6 chloride voltage-gated channel 6 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1313372 D RGD:9068941 20200609 RGD DNA:SNP: :rs3737964(human) PMID:26740945|REF_RGD_ID:14696742 12287260 CLCN6 chloride voltage-gated channel 6 gene DOID:630 genetic disease ISO RGD:1313372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12287260 CLCN6 chloride voltage-gated channel 6 gene DOID:9002301 Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities ISO RGD:1313372 D RGD:7240710 20221116 OMIM 12287260 CLCN6 chloride voltage-gated channel 6 gene DOID:9002301 Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities ISO RGD:1313372 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities PMID:25741868|PMID:33217309 12287260 CLCN6 chloride voltage-gated channel 6 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1313372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 12287260 CLCN6 chloride voltage-gated channel 6 gene DOID:9008086 Developmental Disabilities ISO RGD:1313372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33217309 12287290 ADAM10 ADAM metallopeptidase domain 10 gene DOID:0050700 cardiomyopathy ISO RGD:2032 D RGD:9068941 20200609 RGD PMID:24244825|REF_RGD_ID:13702879 12287290 ADAM10 ADAM metallopeptidase domain 10 gene DOID:0060256 Dowling-Degos disease ISO RGD:735847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12287290 ADAM10 ADAM metallopeptidase domain 10 gene DOID:0060258 reticulate acropigmentation of Kitamura ISO RGD:735847 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Reticulate acropigmentation of Kitamura PMID:23666529|PMID:25741868|PMID:28492532 12287290 ADAM10 ADAM metallopeptidase domain 10 gene DOID:0060258 reticulate acropigmentation of Kitamura susceptibility ISO RGD:735847 D RGD:7240710 20230517 OMIM 12287290 ADAM10 ADAM metallopeptidase domain 10 gene DOID:0081292 traumatic brain injury ISO RGD:2032 D RGD:9068941 20200609 RGD PMID:22489706|REF_RGD_ID:13703033 12287290 ADAM10 ADAM metallopeptidase domain 10 gene DOID:0110050 Alzheimer's disease 18 ISO RGD:735847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease 18 PMID:19608551|PMID:24055016 12287290 ADAM10 ADAM metallopeptidase domain 10 gene DOID:0110050 Alzheimer's disease 18 susceptibility ISO RGD:735847 D RGD:7240710 20230517 OMIM 12287290 ADAM10 ADAM metallopeptidase domain 10 gene DOID:10652 Alzheimer's disease ISO RGD:2032 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex, hippocampus PMID:23296102|PMID:24792732|REF_RGD_ID:13703032|REF_RGD_ID:13703037 12287290 ADAM10 ADAM metallopeptidase domain 10 gene DOID:10652 Alzheimer's disease ISO RGD:735847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30820047 12287290 ADAM10 ADAM metallopeptidase domain 10 gene DOID:1074 kidney failure ISO RGD:735847 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 12287290 ADAM10 ADAM metallopeptidase domain 10 gene DOID:14004 thoracic aortic aneurysm ISO RGD:2032 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:20621845|REF_RGD_ID:5129489 12287290 ADAM10 ADAM metallopeptidase domain 10 gene DOID:1824 status epilepticus ISO RGD:2032 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus PMID:15950787|REF_RGD_ID:1559151 12287290 ADAM10 ADAM metallopeptidase domain 10 gene DOID:2717 Bloom syndrome ISO RGD:735847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12287290 ADAM10 ADAM metallopeptidase domain 10 gene DOID:2986 IgA glomerulonephritis ISO RGD:735847 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 12287290 ADAM10 ADAM metallopeptidase domain 10 gene DOID:5199 ureteral obstruction ISO RGD:735848 D RGD:9068941 20200609 RGD PMID:24103556|REF_RGD_ID:13703030 12287290 ADAM10 ADAM metallopeptidase domain 10 gene DOID:630 genetic disease ISO RGD:735847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287290 ADAM10 ADAM metallopeptidase domain 10 gene DOID:83 cataract ISO RGD:2032 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:23941810|REF_RGD_ID:13703031 12287290 ADAM10 ADAM metallopeptidase domain 10 gene DOID:9000784 Fibrosis ISO RGD:735847 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 12287290 ADAM10 ADAM metallopeptidase domain 10 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:735847 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 12287290 ADAM10 ADAM metallopeptidase domain 10 gene DOID:9002457 Experimental Arthritis ISO RGD:2032 D RGD:9068941 20200609 RGD PMID:23897050|REF_RGD_ID:13703039 12287290 ADAM10 ADAM metallopeptidase domain 10 gene DOID:9002775 Cognitive Dysfunction ISO RGD:2032 D RGD:9068941 20200609 RGD associated with Sleep Deprivation PMID:28455102|REF_RGD_ID:13782059 12287290 ADAM10 ADAM metallopeptidase domain 10 gene DOID:9003713 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis ISO RGD:735847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corticobasal syndrome PMID:25741868 12287290 ADAM10 ADAM metallopeptidase domain 10 gene DOID:9008939 Breast Neoplasms ISO RGD:735847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16583263 12287290 ADAM10 ADAM metallopeptidase domain 10 gene DOID:9256 colorectal cancer ISO RGD:735847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12287290 ADAM10 ADAM metallopeptidase domain 10 gene DOID:9256 colorectal cancer severity ISO RGD:735847 D RGD:9068941 20220728 RGD PMID:31565100|REF_RGD_ID:153298908 12287309 TRAT1 T cell receptor associated transmembrane adaptor 1 gene DOID:11372 megacolon ISO RGD:1350612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12287309 TRAT1 T cell receptor associated transmembrane adaptor 1 gene DOID:630 genetic disease ISO RGD:1350612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287319 CCDC80 coiled-coil domain containing 80 gene DOID:0080600 COVID-19 ISO RGD:736330 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12287319 CCDC80 coiled-coil domain containing 80 gene DOID:3310 atopic dermatitis ISO RGD:736330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23042114 12287319 CCDC80 coiled-coil domain containing 80 gene DOID:630 genetic disease ISO RGD:736330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287319 CCDC80 coiled-coil domain containing 80 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12287332 LOC481473 immunity-related GTPase family M protein gene DOID:0050589 inflammatory bowel disease ISO RGD:1601797 D RGD:9068941 20201127 CTD CTD Direct Evidence: marker/mechanism PMID:26192919 12287332 LOC481473 immunity-related GTPase family M protein gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601797 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12287332 LOC481473 immunity-related GTPase family M protein gene DOID:0110890 inflammatory bowel disease 19 ISO RGD:1601797 D RGD:7240710 20201125 OMIM 12287332 LOC481473 immunity-related GTPase family M protein gene DOID:0110890 inflammatory bowel disease 19 ISO RGD:1601797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 19 PMID:17554261|PMID:18985712|PMID:19174780|PMID:21278745|PMID:33116287 12287332 LOC481473 immunity-related GTPase family M protein gene DOID:399 tuberculosis ISO RGD:1601797 D RGD:7240710 20230505 OMIM 12287332 LOC481473 immunity-related GTPase family M protein gene DOID:630 genetic disease ISO RGD:1601797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287332 LOC481473 immunity-related GTPase family M protein gene DOID:8577 ulcerative colitis ISO RGD:1601797 D RGD:9068941 20201203 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 12287332 LOC481473 immunity-related GTPase family M protein gene DOID:8778 Crohn's disease ISO RGD:1601797 D RGD:9068941 20201127 CTD CTD Direct Evidence: marker/mechanism PMID:17554261|PMID:18438406|PMID:19165925|PMID:21278745 12287332 LOC481473 immunity-related GTPase family M protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601797 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12287338 SCFD2 sec1 family domain containing 2 gene DOID:630 genetic disease ISO RGD:1348082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287351 GEN1 GEN1 Holliday junction 5' flap endonuclease gene DOID:630 genetic disease ISO RGD:1606393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12287351 GEN1 GEN1 Holliday junction 5' flap endonuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:26845104|PMID:28492532|PMID:9536098 12287351 GEN1 GEN1 Holliday junction 5' flap endonuclease gene DOID:9008939 Breast Neoplasms ISO RGD:1606393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:25741868|PMID:28492532 12287351 GEN1 GEN1 Holliday junction 5' flap endonuclease gene DOID:9256 colorectal cancer ISO RGD:1606393 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25741868 12287372 TBC1D16 TBC1 domain family member 16 gene DOID:630 genetic disease ISO RGD:1345819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287372 TBC1D16 TBC1 domain family member 16 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1345819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 12287404 TCAIM T cell activation inhibitor, mitochondrial gene DOID:630 genetic disease ISO RGD:1605240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287427 ZNF605 zinc finger protein 605 gene DOID:630 genetic disease ISO RGD:1353121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287427 ZNF605 zinc finger protein 605 gene DOID:9256 colorectal cancer ISO RGD:1353121 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 12287448 DPYSL3 dihydropyrimidinase like 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735265 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12287448 DPYSL3 dihydropyrimidinase like 3 gene DOID:630 genetic disease ISO RGD:735265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287448 DPYSL3 dihydropyrimidinase like 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12287448 DPYSL3 dihydropyrimidinase like 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735265 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12287481 NDN necdin, MAGE family member gene DOID:0060041 autism spectrum disorder ISO RGD:1321479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 12287481 NDN necdin, MAGE family member gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1321479 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 12287481 NDN necdin, MAGE family member gene DOID:11983 Prader-Willi syndrome ISO RGD:1321479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:25741868|PMID:28631899 12287481 NDN necdin, MAGE family member gene DOID:12849 autistic disorder ISO RGD:1321479 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 12287481 NDN necdin, MAGE family member gene DOID:1932 Angelman syndrome ISO RGD:1321479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:26633545 12287481 NDN necdin, MAGE family member gene DOID:305 carcinoma ISO RGD:1321479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 12287481 NDN necdin, MAGE family member gene DOID:5419 schizophrenia ISO RGD:1321479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12287481 NDN necdin, MAGE family member gene DOID:630 genetic disease ISO RGD:1321479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287481 NDN necdin, MAGE family member gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1321479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 12287481 NDN necdin, MAGE family member gene DOID:9003996 Birth Weight ISO RGD:1321479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31082282 12287481 NDN necdin, MAGE family member gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12287486 SIPA1L2 signal induced proliferation associated 1 like 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1314792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12287486 SIPA1L2 signal induced proliferation associated 1 like 2 gene DOID:630 genetic disease ISO RGD:1314792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287486 SIPA1L2 signal induced proliferation associated 1 like 2 gene DOID:9002189 High Myopia ISO RGD:1314792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12287486 SIPA1L2 signal induced proliferation associated 1 like 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12287525 C1QBP complement C1q binding protein gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1342690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 12287525 C1QBP complement C1q binding protein gene DOID:0111495 combined oxidative phosphorylation deficiency 33 ISO RGD:1342690 D RGD:7240710 20190315 OMIM 12287525 C1QBP complement C1q binding protein gene DOID:0111495 combined oxidative phosphorylation deficiency 33 ISO RGD:1342690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 33 PMID:28492532|PMID:28942965|PMID:32652806|PMID:34003581 12287525 C1QBP complement C1q binding protein gene DOID:630 genetic disease ISO RGD:1342690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287525 C1QBP complement C1q binding protein gene DOID:9008939 Breast Neoplasms ISO RGD:1342690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12287535 CRLF3 cytokine receptor like factor 3 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1342810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 12287535 CRLF3 cytokine receptor like factor 3 gene DOID:1969 cerebral palsy ISO RGD:1342810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12287535 CRLF3 cytokine receptor like factor 3 gene DOID:630 genetic disease ISO RGD:1342810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287535 CRLF3 cytokine receptor like factor 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1342810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 12287550 KIAA1217 KIAA1217 gene DOID:630 genetic disease ISO RGD:1352431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287630 GHDC GH3 domain containing gene DOID:630 genetic disease ISO RGD:1603379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287647 CENPU centromere protein U gene DOID:0080600 COVID-19 ISO RGD:1351502 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12287647 CENPU centromere protein U gene DOID:630 genetic disease ISO RGD:1351502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287647 CENPU centromere protein U gene DOID:684 hepatocellular carcinoma ISO RGD:1351502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12287664 HLF HLF transcription factor, PAR bZIP family member gene DOID:10283 prostate cancer ISO RGD:1347027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12287664 HLF HLF transcription factor, PAR bZIP family member gene DOID:10534 stomach cancer severity ISO RGD:1347027 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 12287664 HLF HLF transcription factor, PAR bZIP family member gene DOID:630 genetic disease ISO RGD:1347027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287664 HLF HLF transcription factor, PAR bZIP family member gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1347027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26214592 12287675 LOC609612 folate receptor alpha gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1346305 D RGD:7240710 20180130 OMIM 12287675 LOC609612 folate receptor alpha gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1346305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:16199547|PMID:17576681|PMID:18842806|PMID:19732866|PMID:20018644|PMID:20683905|PMID:21752681|PMID:21937992|PMID:22586289|PMID:22695967|PMID:24091540|PMID:24556562|PMID:25741868|PMID:26467025|PMID:27328863|PMID:27535533|PMID:27781028|PMID:27884173|PMID:28054128|PMID:28492532|PMID:29661558|PMID:29961769|PMID:9536098 12287675 LOC609612 folate receptor alpha gene DOID:0080074 neural tube defect ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15800851 12287675 LOC609612 folate receptor alpha gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1346305 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12287675 LOC609612 folate receptor alpha gene DOID:1059 intellectual disability ISO RGD:1346305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12287675 LOC609612 folate receptor alpha gene DOID:1682 congenital heart disease ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17286298 12287675 LOC609612 folate receptor alpha gene DOID:1826 epilepsy ISO RGD:1346305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:21937992|PMID:25741868|PMID:27535533|PMID:27884173|PMID:28492532|PMID:29661558|PMID:29961769 12287675 LOC609612 folate receptor alpha gene DOID:3347 osteosarcoma ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17473184 12287675 LOC609612 folate receptor alpha gene DOID:480 movement disease ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19732866 12287675 LOC609612 folate receptor alpha gene DOID:630 genetic disease ISO RGD:1346305 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16453285|PMID:18842806|PMID:20683905|PMID:21937992|PMID:22586289|PMID:22695967|PMID:23851396|PMID:23934049|PMID:25274592|PMID:25741868|PMID:26467025|PMID:27458733|PMID:27535533|PMID:27781028|PMID:27884173|PMID:28492532|PMID:29661558|PMID:29961769|PMID:7578066|PMID:9063895 12287675 LOC609612 folate receptor alpha gene DOID:9001793 Generalized Epilepsy ISO RGD:1346305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 12287675 LOC609612 folate receptor alpha gene DOID:9002762 Ovarian Neoplasms ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17466904 12287675 LOC609612 folate receptor alpha gene DOID:9002928 Colonic Neoplasms ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15705887|PMID:18926688 12287675 LOC609612 folate receptor alpha gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19732866 12287675 LOC609612 folate receptor alpha gene DOID:9005835 Congenital Abnormalities ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20235221 12287675 LOC609612 folate receptor alpha gene DOID:9008514 Psychomotor Disorders ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19732866 12287675 LOC609612 folate receptor alpha gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15800851 12287675 LOC609612 folate receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:25227144 12287686 NEU4 neuraminidase 4 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1318506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12287686 NEU4 neuraminidase 4 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1318506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12287686 NEU4 neuraminidase 4 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1318506 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12287686 NEU4 neuraminidase 4 gene DOID:1059 intellectual disability ISO RGD:1318506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12287686 NEU4 neuraminidase 4 gene DOID:630 genetic disease ISO RGD:1318506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287686 NEU4 neuraminidase 4 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1318506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12287691 OR10W1 olfactory receptor family 10 subfamily W member 1 gene DOID:1059 intellectual disability ISO RGD:1349715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12287691 OR10W1 olfactory receptor family 10 subfamily W member 1 gene DOID:630 genetic disease ISO RGD:1349715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287694 TMUB1 transmembrane and ubiquitin like domain containing 1 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1349176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 12287694 TMUB1 transmembrane and ubiquitin like domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:1349176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 12287694 TMUB1 transmembrane and ubiquitin like domain containing 1 gene DOID:630 genetic disease ISO RGD:1349176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287701 PLEKHG3 pleckstrin homology and RhoGEF domain containing G3 gene DOID:589 congenital hemolytic anemia ISO RGD:1346378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868 12287701 PLEKHG3 pleckstrin homology and RhoGEF domain containing G3 gene DOID:630 genetic disease ISO RGD:1346378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12287748 TICAM1 TIR domain containing adaptor molecule 1 gene DOID:0081013 severe COVID-19 ISO RGD:1603893 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 PMID:28492532 12287748 TICAM1 TIR domain containing adaptor molecule 1 gene DOID:10316 pneumoconiosis ISO RGD:1603893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 12287748 TICAM1 TIR domain containing adaptor molecule 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1603893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478430 12287748 TICAM1 TIR domain containing adaptor molecule 1 gene DOID:630 genetic disease ISO RGD:1603893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12287748 TICAM1 TIR domain containing adaptor molecule 1 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1603893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12287748 TICAM1 TIR domain containing adaptor molecule 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1603893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25780291 12287748 TICAM1 TIR domain containing adaptor molecule 1 gene DOID:9008401 Herpes Simplex Encephalitis 4 ISO RGD:1603893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 4 PMID:22105173|PMID:24033266|PMID:25741868|PMID:26513235|PMID:28492532 12287748 TICAM1 TIR domain containing adaptor molecule 1 gene DOID:9008401 Herpes Simplex Encephalitis 4 susceptibility ISO RGD:1603893 D RGD:7240710 20190502 OMIM 12287755 TNFSF8 TNF superfamily member 8 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 12287755 TNFSF8 TNF superfamily member 8 gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 12287755 TNFSF8 TNF superfamily member 8 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 12287755 TNFSF8 TNF superfamily member 8 gene DOID:0081042 T-cell prolymphocytic leukemia ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 12287755 TNFSF8 TNF superfamily member 8 gene DOID:0081267 graft-versus-host disease ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15322151 12287755 TNFSF8 TNF superfamily member 8 gene DOID:0110581 autosomal dominant nonsyndromic deafness 56 ISO RGD:1351958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 56 PMID:21681106|PMID:23936043 12287755 TNFSF8 TNF superfamily member 8 gene DOID:1024 leprosy ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25320285 12287755 TNFSF8 TNF superfamily member 8 gene DOID:10247 pleurisy ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15380531 12287755 TNFSF8 TNF superfamily member 8 gene DOID:11573 listeriosis ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16177108|PMID:21699557 12287755 TNFSF8 TNF superfamily member 8 gene DOID:12361 Graves' disease ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 12287755 TNFSF8 TNF superfamily member 8 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 12287755 TNFSF8 TNF superfamily member 8 gene DOID:1911 endodermal sinus tumor ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9111512 12287755 TNFSF8 TNF superfamily member 8 gene DOID:285 hairy cell leukemia ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 12287755 TNFSF8 TNF superfamily member 8 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29984229 12287755 TNFSF8 TNF superfamily member 8 gene DOID:3308 embryonal carcinoma ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9111512 12287755 TNFSF8 TNF superfamily member 8 gene DOID:399 tuberculosis ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30202016 12287755 TNFSF8 TNF superfamily member 8 gene DOID:630 genetic disease ISO RGD:1351958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287755 TNFSF8 TNF superfamily member 8 gene DOID:707 B-cell lymphoma ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 12287755 TNFSF8 TNF superfamily member 8 gene DOID:820 myocarditis ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11745696|PMID:12031769 12287755 TNFSF8 TNF superfamily member 8 gene DOID:8567 Hodgkin's lymphoma ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10908157|PMID:11552987|PMID:12358914|PMID:7621881|PMID:8656679|PMID:8701986|PMID:8896393|PMID:9058727 12287755 TNFSF8 TNF superfamily member 8 gene DOID:9000220 Coxsackievirus Infections ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11745696 12287755 TNFSF8 TNF superfamily member 8 gene DOID:9000918 Disease Progression ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11552987 12287755 TNFSF8 TNF superfamily member 8 gene DOID:9001274 Diabetes Mellitus, Congenital Autoimmune ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12930356 12287755 TNFSF8 TNF superfamily member 8 gene DOID:9001415 Mycobacterium Infections ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15316035|PMID:18941223 12287755 TNFSF8 TNF superfamily member 8 gene DOID:9002137 Infectious Ectromelia ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12235215 12287755 TNFSF8 TNF superfamily member 8 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 12287755 TNFSF8 TNF superfamily member 8 gene DOID:9002689 Spontaneous Neoplasm Regression ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11594583 12287755 TNFSF8 TNF superfamily member 8 gene DOID:9003867 Lymphomatoid Papulosis ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11594583 12287755 TNFSF8 TNF superfamily member 8 gene DOID:9005968 Neuralgia ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31432094 12287755 TNFSF8 TNF superfamily member 8 gene DOID:9007355 Hashimoto Disease ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 12287755 TNFSF8 TNF superfamily member 8 gene DOID:9007702 Carcinogenesis ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11552987 12287755 TNFSF8 TNF superfamily member 8 gene DOID:9119 acute myeloid leukemia ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10512160|PMID:11918534|PMID:9058727 12287755 TNFSF8 TNF superfamily member 8 gene DOID:934 viral infectious disease ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 12287755 TNFSF8 TNF superfamily member 8 gene DOID:9538 multiple myeloma ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 12287755 TNFSF8 TNF superfamily member 8 gene DOID:999 hypereosinophilic syndrome ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8896393 12287763 TARBP2 TARBP2 subunit of RISC loading complex gene DOID:630 genetic disease ISO RGD:1316539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287763 TARBP2 TARBP2 subunit of RISC loading complex gene DOID:9000027 Microsatellite Instability ISO RGD:1316539 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 12287763 TARBP2 TARBP2 subunit of RISC loading complex gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12287780 IFNK interferon kappa gene DOID:630 genetic disease ISO RGD:1319166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287783 GAREM2 GRB2 associated regulator of MAPK1 subtype 2 gene DOID:0111277 mitochondrial trifunctional protein deficiency ISO RGD:1603263 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:10234607|PMID:10352164|PMID:10518281|PMID:11773547|PMID:11855930|PMID:12237653|PMID:12442268|PMID:12971428|PMID:14630990|PMID:15902556|PMID:16199547|PMID:17143551|PMID:17576681|PMID:18408953|PMID:19852779|PMID:20583174|PMID:20814823|PMID:21103935|PMID:21549624|PMID:22459206|PMID:23430857|PMID:23868323|PMID:24033266|PMID:25087612|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:26676313|PMID:27014569|PMID:27117294|PMID:27334895|PMID:27491397|PMID:28245050|PMID:28492532|PMID:28559085|PMID:28798025|PMID:29095929|PMID:29124685|PMID:29519241|PMID:30029694|PMID:30626930|PMID:31589614|PMID:31980526|PMID:32778825|PMID:32860008|PMID:34878152|PMID:7738175|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:8865274|PMID:9003853|PMID:9266371|PMID:9536098 12287783 GAREM2 GRB2 associated regulator of MAPK1 subtype 2 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1603263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12287783 GAREM2 GRB2 associated regulator of MAPK1 subtype 2 gene DOID:630 genetic disease ISO RGD:1603263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10352164|PMID:10518281|PMID:11773547|PMID:14630990|PMID:15902556|PMID:18408953|PMID:19852779|PMID:20583174|PMID:20814823|PMID:21103935|PMID:21549624|PMID:23430857|PMID:23868323|PMID:24033266|PMID:25087612|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:26676313|PMID:27117294|PMID:27334895|PMID:27491397|PMID:28245050|PMID:28492532|PMID:28559085|PMID:28798025|PMID:29095929|PMID:30029694|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:9003853|PMID:9266371 12287783 GAREM2 GRB2 associated regulator of MAPK1 subtype 2 gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:1603263 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:10234607|PMID:10352164|PMID:10518281|PMID:11773547|PMID:11855930|PMID:12237653|PMID:12442268|PMID:12971428|PMID:14630990|PMID:15902556|PMID:16199547|PMID:18408953|PMID:19852779|PMID:20583174|PMID:20814823|PMID:21103935|PMID:21549624|PMID:22030098|PMID:22459206|PMID:23430857|PMID:23868323|PMID:24033266|PMID:25087612|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:26676313|PMID:27117294|PMID:27334895|PMID:27491397|PMID:28245050|PMID:28492532|PMID:28559085|PMID:28798025|PMID:29095929|PMID:29124685|PMID:29519241|PMID:30029694|PMID:30626930|PMID:30934865|PMID:31589614|PMID:31980526|PMID:32778825|PMID:33638202|PMID:34878152|PMID:35433174|PMID:7738175|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:8865274|PMID:9003853|PMID:9266371 12287783 GAREM2 GRB2 associated regulator of MAPK1 subtype 2 gene DOID:9008729 Mitochondrial Trifunctional Protein Deficiency 1 ISO RGD:1603263 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Trifunctional protein deficiency type 1 PMID:10352164|PMID:10518281|PMID:11773547|PMID:14630990|PMID:15902556|PMID:18408953|PMID:19852779|PMID:20583174|PMID:20814823|PMID:21103935|PMID:21549624|PMID:23430857|PMID:23868323|PMID:24033266|PMID:25087612|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:26676313|PMID:27117294|PMID:27334895|PMID:27491397|PMID:28245050|PMID:28492532|PMID:28559085|PMID:28798025|PMID:29095929|PMID:30029694|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:9003853|PMID:9266371 12287801 MIR217 microRNA mir-217 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1345644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25538231 12287801 MIR217 microRNA mir-217 gene DOID:4989 pancreatitis ISO RGD:1345644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12287801 MIR217 microRNA mir-217 gene DOID:9000784 Fibrosis ISO RGD:1345644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26891083 12287801 MIR217 microRNA mir-217 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1345644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25538231 12287801 MIR217 microRNA mir-217 gene DOID:9005372 Inflammation ISO RGD:1345644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26891083 12287801 MIR217 microRNA mir-217 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12287898 GP2 glycoprotein 2 gene DOID:630 genetic disease ISO RGD:737446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287898 GP2 glycoprotein 2 gene DOID:9007633 Body Weight ISO RGD:737446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219 12287898 GP2 glycoprotein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 12287913 GRIP1 glutamate receptor interacting protein 1 gene DOID:0060642 recessive dystrophic epidermolysis bullosa ISO RGD:733446 D RGD:9068941 20220825 MouseDO OMIM:226600 12287913 GRIP1 glutamate receptor interacting protein 1 gene DOID:0090001 Fraser syndrome ISO RGD:733446 D RGD:9068941 20220825 MouseDO OMIM:219000 12287913 GRIP1 glutamate receptor interacting protein 1 gene DOID:0111405 Fraser syndrome 1 ISO RGD:1345662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:25741868|PMID:28492532 12287913 GRIP1 glutamate receptor interacting protein 1 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1345662 D RGD:7240710 20190315 OMIM 12287913 GRIP1 glutamate receptor interacting protein 1 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1345662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:21383172|PMID:22510445|PMID:24033266|PMID:25741868|PMID:26539891|PMID:28492532 12287913 GRIP1 glutamate receptor interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:1345662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21383172|PMID:24033266|PMID:25741868|PMID:28492532 12287913 GRIP1 glutamate receptor interacting protein 1 gene DOID:10907 microcephaly ISO RGD:1345662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12287913 GRIP1 glutamate receptor interacting protein 1 gene DOID:11836 clubfoot ISO RGD:733446 D RGD:9068941 20220825 MouseDO OMIM:119800 12287913 GRIP1 glutamate receptor interacting protein 1 gene DOID:630 genetic disease ISO RGD:1345662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12287949 AFTPH aftiphilin gene DOID:630 genetic disease ISO RGD:1606558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287975 ZCCHC2 zinc finger CCHC-type containing 2 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1343061 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12287975 ZCCHC2 zinc finger CCHC-type containing 2 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1343061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 12287975 ZCCHC2 zinc finger CCHC-type containing 2 gene DOID:3312 bipolar disorder ISO RGD:1343061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12287975 ZCCHC2 zinc finger CCHC-type containing 2 gene DOID:630 genetic disease ISO RGD:1343061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287975 ZCCHC2 zinc finger CCHC-type containing 2 gene DOID:9001488 Human Influenza ISO RGD:1343061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12287994 TBCB tubulin folding cofactor B gene DOID:0110222 Brugada syndrome 5 ISO RGD:1320593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12287994 TBCB tubulin folding cofactor B gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1320593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12287994 TBCB tubulin folding cofactor B gene DOID:630 genetic disease ISO RGD:1320593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12287994 TBCB tubulin folding cofactor B gene DOID:9000965 Neoplasm Metastasis ISO RGD:1320593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 12288007 TM2D1 TM2 domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1602315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12288007 TM2D1 TM2 domain containing 1 gene DOID:630 genetic disease ISO RGD:1602315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288018 LINGO2 leucine rich repeat and Ig domain containing 2 gene DOID:11372 megacolon ISO RGD:1344562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12288018 LINGO2 leucine rich repeat and Ig domain containing 2 gene DOID:630 genetic disease ISO RGD:1344562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288018 LINGO2 leucine rich repeat and Ig domain containing 2 gene DOID:670 amphetamine abuse ISO RGD:1344562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12288018 LINGO2 leucine rich repeat and Ig domain containing 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1344562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12288048 OR4D9C olfactory receptor family 4 subfamily D member 9C gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1348576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12288048 OR4D9C olfactory receptor family 4 subfamily D member 9C gene DOID:1059 intellectual disability ISO RGD:1348576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12288048 OR4D9C olfactory receptor family 4 subfamily D member 9C gene DOID:630 genetic disease ISO RGD:1348576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288051 KMT5C lysine methyltransferase 5C gene DOID:630 genetic disease ISO RGD:1346503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288051 KMT5C lysine methyltransferase 5C gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1305226 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:21357467|REF_RGD_ID:9586742 12288051 KMT5C lysine methyltransferase 5C gene DOID:916 liver benign neoplasm disease_progression ISO RGD:1305226 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:16497704|REF_RGD_ID:9586726 12288068 NCLN nicalin gene DOID:10487 Hirschsprung's disease ISO RGD:1343218 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 12288068 NCLN nicalin gene DOID:630 genetic disease ISO RGD:1343218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288068 NCLN nicalin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12288089 LIG4 DNA ligase 4 gene DOID:0060021 DNA ligase IV deficiency ISO RGD:1312194 D RGD:7240710 20180130 OMIM 12288089 LIG4 DNA ligase 4 gene DOID:0060021 DNA ligase IV deficiency ISO RGD:1312194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DNA ligase IV deficiency | ClinVar Annotator: match by term: LIG4-Related Disorders PMID:10395545|PMID:11349135|PMID:11779494|PMID:12471202|PMID:15333585|PMID:16088910|PMID:16358361|PMID:16358631|PMID:16585603|PMID:18845326|PMID:21664875|PMID:23337116|PMID:23372718|PMID:24027040|PMID:24033266|PMID:24123394|PMID:24759409|PMID:24892279|PMID:2523926|PMID:25239263|PMID:25741868|PMID:26151233|PMID:26608917|PMID:26762768|PMID:27063650|PMID:27612988|PMID:27855655|PMID:27893162|PMID:28039949|PMID:28492532|PMID:28866308|PMID:29146883|PMID:30617623|PMID:30719430|PMID:31589614|PMID:31604460|PMID:32534991|PMID:34630384|PMID:35592332|PMID:7063650 12288089 LIG4 DNA ligase 4 gene DOID:0060173 Timothy syndrome ISO RGD:1312194 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25741868 12288089 LIG4 DNA ligase 4 gene DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation ISO RGD:1312194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency PMID:12471202|PMID:24033266|PMID:25741868|PMID:28492532 12288089 LIG4 DNA ligase 4 gene DOID:10283 prostate cancer treatment ISO RGD:1312194 D RGD:9068941 20200609 RGD PMID:16638864|REF_RGD_ID:13204720 12288089 LIG4 DNA ligase 4 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1312194 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;DNA:polymorphism: :54C>T (human) PMID:19147782|REF_RGD_ID:2317363 12288089 LIG4 DNA ligase 4 gene DOID:3070 high grade glioma ISO RGD:1312194 D RGD:9068941 20200609 RGD DNA:SNP: :rs1805388 (human) PMID:23663450|REF_RGD_ID:13204718 12288089 LIG4 DNA ligase 4 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1312194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary thyroid carcinoma PMID:25741868 12288089 LIG4 DNA ligase 4 gene DOID:627 severe combined immunodeficiency ISO RGD:1312194 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:16585603|PMID:18845326|PMID:26151233|PMID:28492532|PMID:31604460 12288089 LIG4 DNA ligase 4 gene DOID:630 genetic disease ISO RGD:1312194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11779494|PMID:15333585|PMID:16088910|PMID:23372718|PMID:24027040|PMID:24123394|PMID:24759409|PMID:24892279|PMID:2523926|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|PMID:28866308|PMID:29146883|PMID:31589614|PMID:31604460|PMID:35592332 12288089 LIG4 DNA ligase 4 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1312194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12288089 LIG4 DNA ligase 4 gene DOID:9256 colorectal cancer ISO RGD:1312194 D RGD:9068941 20200609 RGD DNA, mRNA:hypermethylation, decreased expression PMID:24282031|REF_RGD_ID:8694072 12288089 LIG4 DNA ligase 4 gene DOID:9538 multiple myeloma ISO RGD:1312194 D RGD:7240710 20180130 OMIM 12288089 LIG4 DNA ligase 4 gene DOID:9538 multiple myeloma ISO RGD:1312194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Multiple myeloma, resistance to PMID:12471202|PMID:24033266|PMID:25741868|PMID:28492532 12288108 EIF4E eukaryotic translation initiation factor 4E gene DOID:0050746 mantle cell lymphoma ISO RGD:732833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17148679 12288108 EIF4E eukaryotic translation initiation factor 4E gene DOID:0060041 autism spectrum disorder ISO RGD:732834 D RGD:9068941 20220825 MouseDO 12288108 EIF4E eukaryotic translation initiation factor 4E gene DOID:12849 autistic disorder ISO RGD:732833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, 19 PMID:19556253 12288108 EIF4E eukaryotic translation initiation factor 4E gene DOID:12849 autistic disorder susceptibility ISO RGD:732833 D RGD:7240710 20190502 OMIM 12288108 EIF4E eukaryotic translation initiation factor 4E gene DOID:630 genetic disease ISO RGD:732833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288108 EIF4E eukaryotic translation initiation factor 4E gene DOID:8725 vascular dementia ISO RGD:69647 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:23053837|REF_RGD_ID:10401142 12288108 EIF4E eukaryotic translation initiation factor 4E gene DOID:9004484 Sepsis ISO RGD:69647 D RGD:9068941 20200609 RGD PMID:17709445|REF_RGD_ID:10401144 12288108 EIF4E eukaryotic translation initiation factor 4E gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388789 12288108 EIF4E eukaryotic translation initiation factor 4E gene DOID:9007102 Myocardial Ischemia ISO RGD:69647 D RGD:9068941 20200609 RGD PMID:16439989|REF_RGD_ID:10401145 12288129 ZNF200 zinc finger protein 200 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1349966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12288129 ZNF200 zinc finger protein 200 gene DOID:1826 epilepsy ISO RGD:1349966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12288129 ZNF200 zinc finger protein 200 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1349966 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12288129 ZNF200 zinc finger protein 200 gene DOID:630 genetic disease ISO RGD:1349966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288143 SLIRP SRA stem-loop interacting RNA binding protein gene DOID:630 genetic disease ISO RGD:1323602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288143 SLIRP SRA stem-loop interacting RNA binding protein gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1323602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalomyopathy 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:0050938 breast lobular carcinoma ISO RGD:737523 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:15609129 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:0060071 pre-malignant neoplasm ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15609129 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:0060074 ductal carcinoma in situ ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15609129 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:0060074 ductal carcinoma in situ ISO RGD:737523 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:15609129|REF_RGD_ID:2291932 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:0060074 ductal carcinoma in situ ISO RGD:737523 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:16133357|REF_RGD_ID:2291930 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:737523 D RGD:9068941 20220407 RGD protein:increased phosphorylation:bone marrow (human) PMID:27018255|REF_RGD_ID:151665817 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 ISO RGD:737523 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive PMID:28492532 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:0080909 castration-resistant prostate carcinoma disease_progression ISO RGD:737523 D RGD:9068941 20220414 RGD DNA:CNV: :prostate (human) PMID:23660011|REF_RGD_ID:151667415 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:0080909 castration-resistant prostate carcinoma treatment ISO RGD:11351 D RGD:9068941 20220414 RGD PMID:23660011|REF_RGD_ID:151667415 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:10283 prostate cancer disease_progression ISO RGD:737523 D RGD:9068941 20220414 RGD DNA:CNV: :prostate (human) PMID:23660011|REF_RGD_ID:151667415 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:10485 esophageal atresia ISO RGD:737523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:234 colon adenocarcinoma ISO RGD:737523 D RGD:9068941 20220812 RGD DNA:SNP:intron: (rs7217728) (human) PMID:22121102|REF_RGD_ID:153323313 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:299 adenocarcinoma ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20235097|PMID:21552421 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:305 carcinoma ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942|PMID:17173897 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:3068 glioblastoma disease_progression ISO RGD:737523 D RGD:9068941 20220414 RGD mRNA, protein:increased expression:brain (human) PMID:31783691|REF_RGD_ID:151667907 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:3068 glioblastoma treatment ISO RGD:737523 D RGD:9068941 20220414 RGD human cells in mouse model PMID:31783691|REF_RGD_ID:151667907 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:3261 hyper IgE recurrent infection syndrome 1 ISO RGD:737523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1 PMID:28492532 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:3457 invasive lobular carcinoma ISO RGD:737523 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:15609129|REF_RGD_ID:2291932 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:737523 D RGD:9068941 20220729 RGD mRNA:increased expression:stomach (human) PMID:33042401|REF_RGD_ID:153298934 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:630 genetic disease ISO RGD:737523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:11351 D RGD:9068941 20210702 RGD PMID:28100771|REF_RGD_ID:127285675 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:707 B-cell lymphoma ISO RGD:11351 D RGD:9068941 20220407 RGD PMID:27018255|REF_RGD_ID:151665817 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:8552 chronic myeloid leukemia ISO RGD:737523 D RGD:9068941 20220414 RGD mRNA:increased expression:PBMC (human) PMID:31952546|REF_RGD_ID:151667904 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:11351 D RGD:9068941 20220414 RGD PMID:16522816|REF_RGD_ID:151667903 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:737523 D RGD:9068941 20220414 RGD human cells in mouse model PMID:31952546|REF_RGD_ID:151667904 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:15609129|PMID:16316942|PMID:17173897|PMID:20235097 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:737523 D RGD:9068941 20220414 RGD DNA:CNV: :prostate (human) PMID:23660011|REF_RGD_ID:151667415 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3773 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:9004009 Reperfusion Injury ISO RGD:3773 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:17880360|REF_RGD_ID:2303397 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:9004713 Acute-Phase Reaction ISO RGD:3773 D RGD:9068941 20220331 RGD protein:increased expression:liver (rat) PMID:7519723|REF_RGD_ID:151665740 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:9005172 Lung Neoplasms ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:11351 D RGD:9068941 20220407 RGD PMID:20181624|REF_RGD_ID:151665819 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3773 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:15609129|REF_RGD_ID:2291932 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3773 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:mammary gland PMID:17173897|REF_RGD_ID:2291927 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3773 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3773 D RGD:9068941 20220331 RGD mRNA, protein:increased expression:mammary gland (rat) PMID:12376462|REF_RGD_ID:2292404 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:15609129|PMID:16316942 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms susceptibility ISO RGD:11351 D RGD:9068941 20200609 RGD PMID:12082622|REF_RGD_ID:2298539 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:737523 D RGD:9068941 20201218 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26541527|REF_RGD_ID:40902860 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:9007102 Myocardial Ischemia ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15746188 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:9008138 Ductal Carcinoma ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15609129 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:9008939 Breast Neoplasms ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15609129 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:9008939 Breast Neoplasms ISO RGD:737523 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:15609129|REF_RGD_ID:2291932 12288151 STAT5A signal transducer and activator of transcription 5A gene DOID:9008939 Breast Neoplasms ISO RGD:737523 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:16133357|REF_RGD_ID:2291930 12288177 TMEM198 transmembrane protein 198 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1605296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12288177 TMEM198 transmembrane protein 198 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1605296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12288177 TMEM198 transmembrane protein 198 gene DOID:1148 polydactyly ISO RGD:1605296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 12288177 TMEM198 transmembrane protein 198 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1605296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12288177 TMEM198 transmembrane protein 198 gene DOID:630 genetic disease ISO RGD:1605296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288177 TMEM198 transmembrane protein 198 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12288186 PFN4 profilin family member 4 gene DOID:630 genetic disease ISO RGD:1347216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288203 CD1B CD1b molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1348815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12288203 CD1B CD1b molecule gene DOID:630 genetic disease ISO RGD:1348815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288203 CD1B CD1b molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12288213 SAMD14 sterile alpha motif domain containing 14 gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:1602057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:23949819|PMID:25944380|PMID:26478226|PMID:28492532|PMID:7942841|PMID:9295084|PMID:9443882 12288213 SAMD14 sterile alpha motif domain containing 14 gene DOID:630 genetic disease ISO RGD:1602057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288232 NKX1-1 NK1 homeobox 1 gene DOID:1856 cherubism ISO RGD:1603306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12288236 MIRLET7C microRNA let-7c gene DOID:10652 Alzheimer's disease ISO RGD:1345563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 12288236 MIRLET7C microRNA let-7c gene DOID:12365 malaria treatment ISO RGD:1607642 D RGD:9068941 20200710 RGD PMID:28123381|REF_RGD_ID:35673288 12288236 MIRLET7C microRNA let-7c gene DOID:14250 Down syndrome ISO RGD:1345563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29403643 12288236 MIRLET7C microRNA let-7c gene DOID:2043 hepatitis B ISO RGD:1345563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12288236 MIRLET7C microRNA let-7c gene DOID:684 hepatocellular carcinoma ISO RGD:1345563 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver PMID:22289550|REF_RGD_ID:14695021 12288236 MIRLET7C microRNA let-7c gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12288236 MIRLET7C microRNA let-7c gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12288236 MIRLET7C microRNA let-7c gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1345563 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24704393 12288287 RTL9 retrotransposon Gag like 9 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12288287 RTL9 retrotransposon Gag like 9 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:1352806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked PMID:26242992 12288287 RTL9 retrotransposon Gag like 9 gene DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ISO RGD:1352806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 12288287 RTL9 retrotransposon Gag like 9 gene DOID:12849 autistic disorder ISO RGD:1352806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12288287 RTL9 retrotransposon Gag like 9 gene DOID:5419 schizophrenia ISO RGD:1352806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12288287 RTL9 retrotransposon Gag like 9 gene DOID:630 genetic disease ISO RGD:1352806 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0002116 pterygium disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:19420332|REF_RGD_ID:8657043 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0050127 sinusitis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:20392482|REF_RGD_ID:5130763 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0050697 chorioamnionitis severity ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:12712078|REF_RGD_ID:13204828 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0050700 cardiomyopathy ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16681691|REF_RGD_ID:1581215 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0050700 cardiomyopathy treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:21810612|REF_RGD_ID:13204757 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:14504963|REF_RGD_ID:13204808 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0050827 rheumatic heart disease ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16406300|REF_RGD_ID:1582623 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0050848 obstructive sleep apnea ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:19652426|REF_RGD_ID:5130877 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0050848 obstructive sleep apnea disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:palatopharyngeal muscle PMID:20836084|REF_RGD_ID:5129212 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0050851 glomerulosclerosis ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Hyperhomocysteinemia PMID:20406136|REF_RGD_ID:7207203 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0050851 glomerulosclerosis ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Obesity;mRNA:decreased expression:glomerulus PMID:9300240|REF_RGD_ID:8547929 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0050855 renal fibrosis ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23006043|REF_RGD_ID:13204847 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1348437 D RGD:9068941 20220825 RGD protein:increased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0060001 withdrawal disorder ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20519536 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:25466251|REF_RGD_ID:13204755 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0060041 autism spectrum disorder ISO RGD:731911 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:25466251|REF_RGD_ID:13204755 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:14744773|REF_RGD_ID:2290436 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0060224 atrial fibrillation ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:18194448|REF_RGD_ID:8547896 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0060224 atrial fibrillation ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:papillary muscle of left ventricle PMID:19734590|REF_RGD_ID:8549736 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0060903 thrombosis ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Arteriovenous Fistula;DNA:snp:promoter:g.-1562C>A (rs34016235) (human) PMID:20616161|REF_RGD_ID:7207048 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0080162 lupus nephritis ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22479529 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0080176 meningococcal meningitis ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:10430840|REF_RGD_ID:8547971 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0080177 hepatic veno-occlusive disease ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:blood, liver, lung PMID:23303633|REF_RGD_ID:13204885 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0080207 CAKUT2 treatment ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:27448803|REF_RGD_ID:13204792 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0080685 aortic dissection treatment ISO RGD:731911 D RGD:9068941 20230223 RGD Apolipoprotein E knockout PMID:33403385|REF_RGD_ID:156420156 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0080745 polymyositis ISO RGD:1348437 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:11157561|REF_RGD_ID:8547876 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0080746 Sweet syndrome ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:21658319|REF_RGD_ID:8657060 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0080855 Parkinsonism treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:15075439|REF_RGD_ID:13204850 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0081128 mandibuloacral dysplasia type A lipodystrophy ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18554282 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0081292 traumatic brain injury ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25668593 12288301 MMP9 matrix metallopeptidase 9 gene DOID:0111563 Sturge-Weber syndrome severity ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:23720035|REF_RGD_ID:13204823 12288301 MMP9 matrix metallopeptidase 9 gene DOID:10223 dermatomyositis ISO RGD:1348437 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:11157561|REF_RGD_ID:8547876 12288301 MMP9 matrix metallopeptidase 9 gene DOID:10534 stomach cancer ameliorates ISO RGD:1348437 D RGD:9068941 20211029 RGD human cells in mouse model PMID:26432329|REF_RGD_ID:150520156 12288301 MMP9 matrix metallopeptidase 9 gene DOID:10588 adrenoleukodystrophy ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:23185624|REF_RGD_ID:13204814 12288301 MMP9 matrix metallopeptidase 9 gene DOID:10591 pre-eclampsia ISO RGD:1348437 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:placenta PMID:17083831|REF_RGD_ID:2290399 12288301 MMP9 matrix metallopeptidase 9 gene DOID:10591 pre-eclampsia ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:23776237|REF_RGD_ID:13204787 12288301 MMP9 matrix metallopeptidase 9 gene DOID:106 pleural tuberculosis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:pleura: PMID:18715875|REF_RGD_ID:5129700 12288301 MMP9 matrix metallopeptidase 9 gene DOID:10652 Alzheimer's disease ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:17697439|REF_RGD_ID:7207052 12288301 MMP9 matrix metallopeptidase 9 gene DOID:1070 primary open angle glaucoma no_association ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:insertion: :p.Q279R (rs17576) (human) PMID:20808730|REF_RGD_ID:8549725 12288301 MMP9 matrix metallopeptidase 9 gene DOID:1073 renal hypertension ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:12923405|REF_RGD_ID:1302333 12288301 MMP9 matrix metallopeptidase 9 gene DOID:10763 hypertension ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21051829 12288301 MMP9 matrix metallopeptidase 9 gene DOID:10763 hypertension ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16840178|REF_RGD_ID:1582612 12288301 MMP9 matrix metallopeptidase 9 gene DOID:10763 hypertension ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:decreased expression:internal mammary artery PMID:15363819|REF_RGD_ID:1582532 12288301 MMP9 matrix metallopeptidase 9 gene DOID:10763 hypertension ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:17977875|REF_RGD_ID:2290351 12288301 MMP9 matrix metallopeptidase 9 gene DOID:10763 hypertension susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Aneurysm, Dissecting;DNA:polymorphism:promoter:-1562C>T PMID:16780738|REF_RGD_ID:1642029 12288301 MMP9 matrix metallopeptidase 9 gene DOID:10808 gastric ulcer ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17603938 12288301 MMP9 matrix metallopeptidase 9 gene DOID:10808 gastric ulcer ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:stomach secretion PMID:17603938|REF_RGD_ID:1642033 12288301 MMP9 matrix metallopeptidase 9 gene DOID:1094 attention deficit hyperactivity disorder severity ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:24633733|REF_RGD_ID:13204849 12288301 MMP9 matrix metallopeptidase 9 gene DOID:10941 intracranial aneurysm ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:9310982|REF_RGD_ID:13204853 12288301 MMP9 matrix metallopeptidase 9 gene DOID:10941 intracranial aneurysm ISO RGD:1348437 D RGD:9068941 20230202 RGD protein:increased expression:artery PMID:32602008|REF_RGD_ID:155882593 12288301 MMP9 matrix metallopeptidase 9 gene DOID:10941 intracranial aneurysm ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23844137|REF_RGD_ID:8547935 12288301 MMP9 matrix metallopeptidase 9 gene DOID:10941 intracranial aneurysm ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:artery PMID:17122420|REF_RGD_ID:1642055 12288301 MMP9 matrix metallopeptidase 9 gene DOID:10941 intracranial aneurysm ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA:increased expression:blood vessel PMID:17569872|REF_RGD_ID:2290352 12288301 MMP9 matrix metallopeptidase 9 gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16961137|REF_RGD_ID:1582646 12288301 MMP9 matrix metallopeptidase 9 gene DOID:10941 intracranial aneurysm treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:21937941|REF_RGD_ID:13204858 12288301 MMP9 matrix metallopeptidase 9 gene DOID:10964 cholesteatoma of middle ear severity ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:15620146|REF_RGD_ID:8547870 12288301 MMP9 matrix metallopeptidase 9 gene DOID:10976 membranous glomerulonephritis ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:8613533|REF_RGD_ID:8547919 12288301 MMP9 matrix metallopeptidase 9 gene DOID:11054 urinary bladder cancer ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30548095 12288301 MMP9 matrix metallopeptidase 9 gene DOID:11054 urinary bladder cancer ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:17466450|REF_RGD_ID:2290395 12288301 MMP9 matrix metallopeptidase 9 gene DOID:11294 arteriovenous malformation ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16720380|REF_RGD_ID:1582655 12288301 MMP9 matrix metallopeptidase 9 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21211006|REF_RGD_ID:5129208 12288301 MMP9 matrix metallopeptidase 9 gene DOID:11446 sciatic neuropathy treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:25172308|REF_RGD_ID:13207330 12288301 MMP9 matrix metallopeptidase 9 gene DOID:11476 osteoporosis ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with osteoporosis; protein:increased expression:serum PMID:19411568|REF_RGD_ID:5129553 12288301 MMP9 matrix metallopeptidase 9 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:19097983|REF_RGD_ID:5129685 12288301 MMP9 matrix metallopeptidase 9 gene DOID:1168 familial hyperlipidemia ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:16490430|REF_RGD_ID:1642030 12288301 MMP9 matrix metallopeptidase 9 gene DOID:11723 Duchenne muscular dystrophy treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:23977226|REF_RGD_ID:13204809 12288301 MMP9 matrix metallopeptidase 9 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18585501|REF_RGD_ID:5130889 12288301 MMP9 matrix metallopeptidase 9 gene DOID:12236 primary biliary cholangitis treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:20056896|REF_RGD_ID:8552731 12288301 MMP9 matrix metallopeptidase 9 gene DOID:12510 retinal ischemia treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23537149|REF_RGD_ID:10755711 12288301 MMP9 matrix metallopeptidase 9 gene DOID:12662 paracoccidioidomycosis ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:19765107|REF_RGD_ID:8657058 12288301 MMP9 matrix metallopeptidase 9 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:731911 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:bronchoalveolar lavage fluid PMID:17254480|REF_RGD_ID:5130726 12288301 MMP9 matrix metallopeptidase 9 gene DOID:12858 Huntington's disease ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:striatum PMID:21175737|REF_RGD_ID:13204827 12288301 MMP9 matrix metallopeptidase 9 gene DOID:12894 Sjogren's syndrome ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:15316122|REF_RGD_ID:8547814 12288301 MMP9 matrix metallopeptidase 9 gene DOID:12894 Sjogren's syndrome ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased activity:saliva PMID:9923658|REF_RGD_ID:8547858 12288301 MMP9 matrix metallopeptidase 9 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:kidney PMID:19357873|REF_RGD_ID:2325738 12288301 MMP9 matrix metallopeptidase 9 gene DOID:13139 crescentic glomerulonephritis ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:renal cortex (rat) PMID:16046515|REF_RGD_ID:2313720 12288301 MMP9 matrix metallopeptidase 9 gene DOID:13241 Behcet's disease ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:17949555|REF_RGD_ID:8657044 12288301 MMP9 matrix metallopeptidase 9 gene DOID:13241 Behcet's disease ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:plasma, platelets PMID:22116092|REF_RGD_ID:8547820 12288301 MMP9 matrix metallopeptidase 9 gene DOID:13375 temporal arteritis ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNP:CDS:rs2250889 (human) PMID:18512818|REF_RGD_ID:8547902 12288301 MMP9 matrix metallopeptidase 9 gene DOID:13375 temporal arteritis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased activity:temporal artery PMID:17502363|REF_RGD_ID:8657040 12288301 MMP9 matrix metallopeptidase 9 gene DOID:13375 temporal arteritis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8843867|REF_RGD_ID:8547826 12288301 MMP9 matrix metallopeptidase 9 gene DOID:13375 temporal arteritis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:temporal artery (human) PMID:15998676|REF_RGD_ID:1580575 12288301 MMP9 matrix metallopeptidase 9 gene DOID:13375 temporal arteritis no_association ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, CDS:rs17576, rs3918242, rs3918252 (human) PMID:18512818|REF_RGD_ID:8547902 12288301 MMP9 matrix metallopeptidase 9 gene DOID:13378 Kawasaki disease ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:12626459|REF_RGD_ID:1580170 12288301 MMP9 matrix metallopeptidase 9 gene DOID:13378 Kawasaki disease ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:18311803|REF_RGD_ID:8547899 12288301 MMP9 matrix metallopeptidase 9 gene DOID:13515 tuberous sclerosis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:22459050|REF_RGD_ID:8547829 12288301 MMP9 matrix metallopeptidase 9 gene DOID:13550 angle-closure glaucoma ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNP: :c.836A>G (rs17576) (human) PMID:23441116|REF_RGD_ID:8549724 12288301 MMP9 matrix metallopeptidase 9 gene DOID:13550 angle-closure glaucoma ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNP: :rs2664538 (human) PMID:17110919|REF_RGD_ID:8547816 12288301 MMP9 matrix metallopeptidase 9 gene DOID:13550 angle-closure glaucoma ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNPs: :rs17576, rs3918249 (human) PMID:21655354|REF_RGD_ID:8547830 12288301 MMP9 matrix metallopeptidase 9 gene DOID:13550 angle-closure glaucoma no_association ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1562C>T (human) PMID:23441116|REF_RGD_ID:8549724 12288301 MMP9 matrix metallopeptidase 9 gene DOID:13619 extrahepatic cholestasis ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 12288301 MMP9 matrix metallopeptidase 9 gene DOID:13641 exfoliation syndrome no_association ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:insertion: :p.Q279R (rs17576) (human) PMID:20808730|REF_RGD_ID:8549725 12288301 MMP9 matrix metallopeptidase 9 gene DOID:13714 anodontia ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNP: :rs17576 (human) PMID:24351915|REF_RGD_ID:13204812 12288301 MMP9 matrix metallopeptidase 9 gene DOID:13934 facial paralysis ISO RGD:731911 D RGD:9068941 20200609 RGD associated with Herpes Simplex;mRNA, protein:increased expression:facial VII nucleus PMID:23817985|REF_RGD_ID:8547852 12288301 MMP9 matrix metallopeptidase 9 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16159824 12288301 MMP9 matrix metallopeptidase 9 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16678588|REF_RGD_ID:1580554 12288301 MMP9 matrix metallopeptidase 9 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:decreased activity:aorta (human) PMID:16820601|REF_RGD_ID:1582351 12288301 MMP9 matrix metallopeptidase 9 gene DOID:14004 thoracic aortic aneurysm ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta PMID:20621845|REF_RGD_ID:5129489 12288301 MMP9 matrix metallopeptidase 9 gene DOID:14250 Down syndrome ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:24519975|REF_RGD_ID:13204810 12288301 MMP9 matrix metallopeptidase 9 gene DOID:14261 fragile X syndrome ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:25466251|REF_RGD_ID:13204755 12288301 MMP9 matrix metallopeptidase 9 gene DOID:14261 fragile X syndrome treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:26850918|REF_RGD_ID:11572344 12288301 MMP9 matrix metallopeptidase 9 gene DOID:14323 Marfan syndrome ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18178469 12288301 MMP9 matrix metallopeptidase 9 gene DOID:14323 Marfan syndrome treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:18178469|REF_RGD_ID:13204796 12288301 MMP9 matrix metallopeptidase 9 gene DOID:1485 cystic fibrosis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar lavage fluid PMID:17526676|REF_RGD_ID:5130723 12288301 MMP9 matrix metallopeptidase 9 gene DOID:1485 cystic fibrosis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:25545245|REF_RGD_ID:13204794 12288301 MMP9 matrix metallopeptidase 9 gene DOID:1561 cognitive disorder ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:22363061|REF_RGD_ID:8694114 12288301 MMP9 matrix metallopeptidase 9 gene DOID:1574 alcohol use disorder ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:24966898|REF_RGD_ID:13207311 12288301 MMP9 matrix metallopeptidase 9 gene DOID:1657 ventricular septal defect severity ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:21238444|REF_RGD_ID:13204804 12288301 MMP9 matrix metallopeptidase 9 gene DOID:1686 glaucoma ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16185954|REF_RGD_ID:8547817 12288301 MMP9 matrix metallopeptidase 9 gene DOID:1749 squamous cell carcinoma ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 12288301 MMP9 matrix metallopeptidase 9 gene DOID:1749 squamous cell carcinoma ISO RGD:1348437 D RGD:9068941 20200609 RGD mRNA:increased expression:tongue PMID:18254958|REF_RGD_ID:8547895 12288301 MMP9 matrix metallopeptidase 9 gene DOID:1749 squamous cell carcinoma ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:middle ear PMID:22178867|REF_RGD_ID:8547836 12288301 MMP9 matrix metallopeptidase 9 gene DOID:1749 squamous cell carcinoma ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa PMID:21624249|REF_RGD_ID:8657057 12288301 MMP9 matrix metallopeptidase 9 gene DOID:1749 squamous cell carcinoma ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:11081634|REF_RGD_ID:8547854 12288301 MMP9 matrix metallopeptidase 9 gene DOID:1793 pancreatic cancer ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22952646 12288301 MMP9 matrix metallopeptidase 9 gene DOID:1793 pancreatic cancer ISO RGD:1348437 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:7635566|REF_RGD_ID:2325766 12288301 MMP9 matrix metallopeptidase 9 gene DOID:1793 pancreatic cancer ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:18030366|PMID:18445772|REF_RGD_ID:2325849|REF_RGD_ID:2325854 12288301 MMP9 matrix metallopeptidase 9 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19629003|REF_RGD_ID:2325831 12288301 MMP9 matrix metallopeptidase 9 gene DOID:182 calcinosis ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15545515|PMID:21193197 12288301 MMP9 matrix metallopeptidase 9 gene DOID:1824 status epilepticus ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus, astrocyte, dendrite PMID:17928157|REF_RGD_ID:8547922 12288301 MMP9 matrix metallopeptidase 9 gene DOID:1825 childhood absence epilepsy ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:20303372|REF_RGD_ID:8547934 12288301 MMP9 matrix metallopeptidase 9 gene DOID:1826 epilepsy ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, hippocampus PMID:23182966|REF_RGD_ID:13204763 12288301 MMP9 matrix metallopeptidase 9 gene DOID:2123 tularemia ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:17202364|REF_RGD_ID:5130727 12288301 MMP9 matrix metallopeptidase 9 gene DOID:2234 focal epilepsy ISO RGD:1348437 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12288301 MMP9 matrix metallopeptidase 9 gene DOID:224 transient cerebral ischemia ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:brain PMID:11592852|REF_RGD_ID:8547930 12288301 MMP9 matrix metallopeptidase 9 gene DOID:224 transient cerebral ischemia ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:16197500|REF_RGD_ID:8547921 12288301 MMP9 matrix metallopeptidase 9 gene DOID:224 transient cerebral ischemia treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23046750|PMID:24773551|REF_RGD_ID:13207320|REF_RGD_ID:13207323 12288301 MMP9 matrix metallopeptidase 9 gene DOID:2316 brain ischemia ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15060315 12288301 MMP9 matrix metallopeptidase 9 gene DOID:2316 brain ischemia ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:16846501|REF_RGD_ID:1582611 12288301 MMP9 matrix metallopeptidase 9 gene DOID:234 colon adenocarcinoma ISO RGD:1348437 D RGD:9068941 20220826 RGD protein:increased expression:colon (human) PMID:22419013|REF_RGD_ID:153344572 12288301 MMP9 matrix metallopeptidase 9 gene DOID:2349 arteriosclerosis ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:15823277|REF_RGD_ID:1580550 12288301 MMP9 matrix metallopeptidase 9 gene DOID:2349 arteriosclerosis ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:16317521|REF_RGD_ID:1582628 12288301 MMP9 matrix metallopeptidase 9 gene DOID:2377 multiple sclerosis ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNP, repeat:promoter:-1562C>T (human) PMID:20471697|REF_RGD_ID:13204848 12288301 MMP9 matrix metallopeptidase 9 gene DOID:2377 multiple sclerosis ISO RGD:1348437 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell PMID:23401127|REF_RGD_ID:13204754 12288301 MMP9 matrix metallopeptidase 9 gene DOID:2377 multiple sclerosis no_association ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:repeat, SNP:promoter PMID:10713364|REF_RGD_ID:13204826 12288301 MMP9 matrix metallopeptidase 9 gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1562C>T (human) PMID:19628284|REF_RGD_ID:13204795 12288301 MMP9 matrix metallopeptidase 9 gene DOID:2378 relapsing-remitting multiple sclerosis treatment ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16412833|REF_RGD_ID:13204825 12288301 MMP9 matrix metallopeptidase 9 gene DOID:2508 Takayasu's arteritis disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:23100088|REF_RGD_ID:8693315 12288301 MMP9 matrix metallopeptidase 9 gene DOID:2560 morphine dependence ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20519536 12288301 MMP9 matrix metallopeptidase 9 gene DOID:2799 bronchiolitis obliterans ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:bronchoalveolar lavage fluid PMID:20417130|REF_RGD_ID:5130759 12288301 MMP9 matrix metallopeptidase 9 gene DOID:2841 asthma ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11742282|PMID:15131573 12288301 MMP9 matrix metallopeptidase 9 gene DOID:2841 asthma ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:19940022|REF_RGD_ID:5129522 12288301 MMP9 matrix metallopeptidase 9 gene DOID:2841 asthma ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNP: : rs2664538(human) PMID:20181264|REF_RGD_ID:5130859 12288301 MMP9 matrix metallopeptidase 9 gene DOID:2841 asthma ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19361849|REF_RGD_ID:5129687 12288301 MMP9 matrix metallopeptidase 9 gene DOID:2841 asthma ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21439806|REF_RGD_ID:5129204 12288301 MMP9 matrix metallopeptidase 9 gene DOID:2841 asthma ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:16191269|REF_RGD_ID:2325953 12288301 MMP9 matrix metallopeptidase 9 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:12487935|REF_RGD_ID:2298523 12288301 MMP9 matrix metallopeptidase 9 gene DOID:289 endometriosis ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:20085636|REF_RGD_ID:2325792 12288301 MMP9 matrix metallopeptidase 9 gene DOID:2957 pulmonary tuberculosis ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:16982845|REF_RGD_ID:5130746 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3042 allergic contact dermatitis ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA:increased expression:skin, lymph node PMID:16977379|REF_RGD_ID:2325935 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3042 allergic contact dermatitis ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:10359808|PMID:10415717|REF_RGD_ID:8547869|REF_RGD_ID:8693317 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3068 glioblastoma ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16598420 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3068 glioblastoma severity ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:brain (human) PMID:7616276|REF_RGD_ID:7207145 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3068 glioblastoma treatment ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:12439751|REF_RGD_ID:8547973 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3069 malignant astrocytoma ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20188714 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3082 interstitial lung disease ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:20185904|REF_RGD_ID:5130857 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3082 interstitial lung disease ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Sclerodema, systemic; protein:increased expression:bronchoalveolar lavage fluid PMID:17643278|REF_RGD_ID:5130207 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19299917 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19411568|REF_RGD_ID:5129553 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-1562C-->T (human) PMID:18619044|REF_RGD_ID:5130149 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1562C-->T (human) PMID:20160424|REF_RGD_ID:5129494 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:25842729|REF_RGD_ID:13207319 12288301 MMP9 matrix metallopeptidase 9 gene DOID:326 ischemia ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:15047130|REF_RGD_ID:1582640 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3310 atopic dermatitis treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:27776525|REF_RGD_ID:13204759 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum, plasma PMID:18760908|REF_RGD_ID:5129697 12288301 MMP9 matrix metallopeptidase 9 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731911 D RGD:9068941 20200609 RGD protein:increased expression:skin of body, spinal cord PMID:20441996|REF_RGD_ID:13204793 12288301 MMP9 matrix metallopeptidase 9 gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum, cerebrospinal fluid (human) PMID:19796283|REF_RGD_ID:7207054 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3328 temporal lobe epilepsy ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:22459050|REF_RGD_ID:8547829 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:15191941|REF_RGD_ID:1582644 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3393 coronary artery disease treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:26261622|REF_RGD_ID:11344965 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3407 carotid artery disease ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16339461|REF_RGD_ID:1582626 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3454 brain infarction ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16599837|REF_RGD_ID:1582617 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3525 middle cerebral artery infarction ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19309543 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:24842554|REF_RGD_ID:13204729 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3526 cerebral infarction ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16846501 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:20332475|REF_RGD_ID:2325830 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, serum PMID:18706098|REF_RGD_ID:2325844 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3627 aortic aneurysm ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10231640 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348437 D RGD:9068941 20220526 RGD protein:increased activity: esophagus PMID:24789592|REF_RGD_ID:152600903 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3770 pulmonary fibrosis ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21468558 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3770 pulmonary fibrosis ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:lung, plasma PMID:17121240|REF_RGD_ID:1642054 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23318412|REF_RGD_ID:13204970 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21789004 12288301 MMP9 matrix metallopeptidase 9 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20704821|REF_RGD_ID:5129215 12288301 MMP9 matrix metallopeptidase 9 gene DOID:4079 heart valve disease ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:24093773|REF_RGD_ID:13204818 12288301 MMP9 matrix metallopeptidase 9 gene DOID:409 liver disease ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12288301 MMP9 matrix metallopeptidase 9 gene DOID:418 systemic scleroderma ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:15642145|REF_RGD_ID:1580577 12288301 MMP9 matrix metallopeptidase 9 gene DOID:4195 hyperglycemia ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Brain Ischemia PMID:17272778|REF_RGD_ID:1642027 12288301 MMP9 matrix metallopeptidase 9 gene DOID:4250 conjunctivochalasis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:conjunctiva PMID:20019361|REF_RGD_ID:8693314 12288301 MMP9 matrix metallopeptidase 9 gene DOID:4448 macular degeneration ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:22490043|REF_RGD_ID:7829793 12288301 MMP9 matrix metallopeptidase 9 gene DOID:4448 macular degeneration severity ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:22773904|REF_RGD_ID:10053644 12288301 MMP9 matrix metallopeptidase 9 gene DOID:4450 renal cell carcinoma ISO RGD:1348437 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:18035688|REF_RGD_ID:2290358 12288301 MMP9 matrix metallopeptidase 9 gene DOID:4644 epidermolysis bullosa simplex ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:23894602|REF_RGD_ID:13204851 12288301 MMP9 matrix metallopeptidase 9 gene DOID:4724 brain edema ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15529013 12288301 MMP9 matrix metallopeptidase 9 gene DOID:4724 brain edema ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Cerebral Hemorrhage PMID:20541575|REF_RGD_ID:5490126 12288301 MMP9 matrix metallopeptidase 9 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:esophagus PMID:25562781|REF_RGD_ID:13204790 12288301 MMP9 matrix metallopeptidase 9 gene DOID:4947 cholangiocarcinoma ISO RGD:1348437 D RGD:9068941 20200609 RGD mRNA:increased expression:bile duct PMID:16463672|REF_RGD_ID:2325856 12288301 MMP9 matrix metallopeptidase 9 gene DOID:4947 cholangiocarcinoma ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:15213623|REF_RGD_ID:2324667 12288301 MMP9 matrix metallopeptidase 9 gene DOID:4947 cholangiocarcinoma ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:15213623|REF_RGD_ID:2324667 12288301 MMP9 matrix metallopeptidase 9 gene DOID:520 aortic disease ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15545515 12288301 MMP9 matrix metallopeptidase 9 gene DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:sural nerve PMID:10408538|REF_RGD_ID:13204856 12288301 MMP9 matrix metallopeptidase 9 gene DOID:5517 stomach carcinoma ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:stomach PMID:20434464|REF_RGD_ID:2325777 12288301 MMP9 matrix metallopeptidase 9 gene DOID:552 pneumonia ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:18007984|REF_RGD_ID:5130157 12288301 MMP9 matrix metallopeptidase 9 gene DOID:557 kidney disease ISO RGD:621320 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:17392157|REF_RGD_ID:1642041 12288301 MMP9 matrix metallopeptidase 9 gene DOID:5679 retinal disease ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 12288301 MMP9 matrix metallopeptidase 9 gene DOID:5773 oral submucous fibrosis ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 12288301 MMP9 matrix metallopeptidase 9 gene DOID:5844 myocardial infarction ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16310260|PMID:24358288 12288301 MMP9 matrix metallopeptidase 9 gene DOID:5844 myocardial infarction ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:coronary artery, plasma (human) PMID:15118287|REF_RGD_ID:1582645 12288301 MMP9 matrix metallopeptidase 9 gene DOID:5844 myocardial infarction ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:16845718|REF_RGD_ID:1582653 12288301 MMP9 matrix metallopeptidase 9 gene DOID:5844 myocardial infarction ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:heart left ventricle (rat) PMID:8531210|REF_RGD_ID:7207198 12288301 MMP9 matrix metallopeptidase 9 gene DOID:5844 myocardial infarction ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:14729404|REF_RGD_ID:1582639 12288301 MMP9 matrix metallopeptidase 9 gene DOID:5844 myocardial infarction ISO RGD:731911 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:25520329|REF_RGD_ID:13204799 12288301 MMP9 matrix metallopeptidase 9 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:snps:promoter, exon:g.-1562C>T, p.R279Q (rs3918242, rs2664538) (human) PMID:17893005|REF_RGD_ID:7207049 12288301 MMP9 matrix metallopeptidase 9 gene DOID:6000 congestive heart failure ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16952784|REF_RGD_ID:1582647 12288301 MMP9 matrix metallopeptidase 9 gene DOID:6000 congestive heart failure ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle, plasma PMID:20606426|REF_RGD_ID:8694112 12288301 MMP9 matrix metallopeptidase 9 gene DOID:6000 congestive heart failure ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:11342481|REF_RGD_ID:7207137 12288301 MMP9 matrix metallopeptidase 9 gene DOID:6000 congestive heart failure ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary; protein:increased expression:heart PMID:17913382|REF_RGD_ID:5130174 12288301 MMP9 matrix metallopeptidase 9 gene DOID:630 genetic disease ISO RGD:1348437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12288301 MMP9 matrix metallopeptidase 9 gene DOID:6432 pulmonary hypertension ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:21063214|REF_RGD_ID:5129210 12288301 MMP9 matrix metallopeptidase 9 gene DOID:6432 pulmonary hypertension ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Heart Failure, Congestive;protein:decreased expression:monocyte PMID:16867026|REF_RGD_ID:1642028 12288301 MMP9 matrix metallopeptidase 9 gene DOID:6432 pulmonary hypertension ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23087098|REF_RGD_ID:7207217 12288301 MMP9 matrix metallopeptidase 9 gene DOID:6432 pulmonary hypertension ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Pulmonary Embolism;protein:increased expression:lung, plasma PMID:17133179|REF_RGD_ID:1642053 12288301 MMP9 matrix metallopeptidase 9 gene DOID:6432 pulmonary hypertension severity ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:18355767|REF_RGD_ID:5130155 12288301 MMP9 matrix metallopeptidase 9 gene DOID:646 viral encephalitis ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with influenza; protein:increased expression:serum PMID:17529876|REF_RGD_ID:5130920 12288301 MMP9 matrix metallopeptidase 9 gene DOID:6688 autoimmune lymphoproliferative syndrome disease_progression ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:21376533|REF_RGD_ID:13204846 12288301 MMP9 matrix metallopeptidase 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20084675 12288301 MMP9 matrix metallopeptidase 9 gene DOID:684 hepatocellular carcinoma ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:21681821|REF_RGD_ID:8547864 12288301 MMP9 matrix metallopeptidase 9 gene DOID:7148 rheumatoid arthritis ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16406300|REF_RGD_ID:1582623 12288301 MMP9 matrix metallopeptidase 9 gene DOID:769 neuroblastoma ISO RGD:1348437 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 12288301 MMP9 matrix metallopeptidase 9 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17196988 12288301 MMP9 matrix metallopeptidase 9 gene DOID:7693 abdominal aortic aneurysm severity ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16432074|REF_RGD_ID:1582641 12288301 MMP9 matrix metallopeptidase 9 gene DOID:7693 abdominal aortic aneurysm treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:21256058|REF_RGD_ID:13207313 12288301 MMP9 matrix metallopeptidase 9 gene DOID:799 varicose veins ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16465063|REF_RGD_ID:1582620 12288301 MMP9 matrix metallopeptidase 9 gene DOID:820 myocarditis ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:16533694|REF_RGD_ID:1582352 12288301 MMP9 matrix metallopeptidase 9 gene DOID:824 periodontitis ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22808498|PMID:24640096 12288301 MMP9 matrix metallopeptidase 9 gene DOID:8398 osteoarthritis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid, serum (human) PMID:15194590|REF_RGD_ID:7207131 12288301 MMP9 matrix metallopeptidase 9 gene DOID:8440 ileus ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:jejunum, colon, peritoneal fluid PMID:23079570|REF_RGD_ID:8547906 12288301 MMP9 matrix metallopeptidase 9 gene DOID:850 lung disease ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar lavage fluid PMID:20335295|REF_RGD_ID:5129490 12288301 MMP9 matrix metallopeptidase 9 gene DOID:850 lung disease ISO RGD:621320 D RGD:9068941 20200609 RGD lung injury associated with pancreatitis, acute necrotizing PMID:19494493|REF_RGD_ID:5129548 12288301 MMP9 matrix metallopeptidase 9 gene DOID:850 lung disease ISO RGD:621320 D RGD:9068941 20200609 RGD lung injury; mRNA, protein:increased expression:lung PMID:19545667|REF_RGD_ID:5129531 12288301 MMP9 matrix metallopeptidase 9 gene DOID:850 lung disease ISO RGD:731911 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury PMID:18223162|REF_RGD_ID:5130156 12288301 MMP9 matrix metallopeptidase 9 gene DOID:8506 bullous pemphigoid ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:9687525|REF_RGD_ID:8547843 12288301 MMP9 matrix metallopeptidase 9 gene DOID:8549 chronic ulcer of skin susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic in males;DNA:SNP:promoter:-1562C>T (rs3918242) (human) PMID:21455563|REF_RGD_ID:8547865 12288301 MMP9 matrix metallopeptidase 9 gene DOID:8553 pyoderma gangrenosum ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:21658319|REF_RGD_ID:8657060 12288301 MMP9 matrix metallopeptidase 9 gene DOID:8577 ulcerative colitis ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22119283 12288301 MMP9 matrix metallopeptidase 9 gene DOID:869 cholesteatoma ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:19484988|REF_RGD_ID:8657059 12288301 MMP9 matrix metallopeptidase 9 gene DOID:874 bacterial pneumonia ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar lavage fluid PMID:19535150|REF_RGD_ID:5129533 12288301 MMP9 matrix metallopeptidase 9 gene DOID:874 bacterial pneumonia ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:17202364|REF_RGD_ID:5130727 12288301 MMP9 matrix metallopeptidase 9 gene DOID:8869 neuromyelitis optica ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21621856|REF_RGD_ID:8547883 12288301 MMP9 matrix metallopeptidase 9 gene DOID:8881 rosacea ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:tear PMID:10509643|REF_RGD_ID:8547821 12288301 MMP9 matrix metallopeptidase 9 gene DOID:8923 skin melanoma ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:12404291|REF_RGD_ID:13204786 12288301 MMP9 matrix metallopeptidase 9 gene DOID:8923 skin melanoma disease progression ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNP, missense mutations:promoter, cds:-1562C>T,p.R279Q, p.P574R (human) PMID:17346338|REF_RGD_ID:8547886 12288301 MMP9 matrix metallopeptidase 9 gene DOID:8947 diabetic retinopathy ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16643893|REF_RGD_ID:1582616 12288301 MMP9 matrix metallopeptidase 9 gene DOID:8947 diabetic retinopathy ISO RGD:731911 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21933988|REF_RGD_ID:8547857 12288301 MMP9 matrix metallopeptidase 9 gene DOID:8947 diabetic retinopathy disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:10374894|REF_RGD_ID:8547815 12288301 MMP9 matrix metallopeptidase 9 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:10644865|REF_RGD_ID:7207194 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:25763638|REF_RGD_ID:12791993 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Endometrial Neoplasms;protein:increased expression:endometrium PMID:12487935|REF_RGD_ID:2298523 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung;protein:increased expression:serum PMID:20704821|REF_RGD_ID:5129215 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Tongue Neoplasms PMID:23107277|REF_RGD_ID:8547824 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000099 Experimental Colitis treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23323009|REF_RGD_ID:13207328 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:17371820|REF_RGD_ID:1642043 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000113 Pneumococcal Meningitis treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:24419461|REF_RGD_ID:8657111 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1348437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000403 Animal Mammary Neoplasms treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:23714264|REF_RGD_ID:8547831 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27157545 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:17410600|REF_RGD_ID:1642039 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:19940022|REF_RGD_ID:5129522 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000784 Fibrosis ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:20108118|REF_RGD_ID:2325790 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000787 Tachycardia, Atrioventricular Nodal Reentry treatment ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:15175065|REF_RGD_ID:13204852 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000806 Metaphyseal Anadysplasia 2 ISO RGD:1348437 D RGD:7240710 20180130 OMIM 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000806 Metaphyseal Anadysplasia 2 ISO RGD:1348437 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Metaphyseal anadysplasia 2 PMID:16631427|PMID:18035073|PMID:19615667|PMID:20605480|PMID:22942228|PMID:25741868|PMID:26207422|PMID:26489027|PMID:28492532|PMID:34407464 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000918 Disease Progression ISO RGD:1348437 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000955 Acute Otitis Media ISO RGD:731911 D RGD:9068941 20210611 RGD mRNA:increased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Melanoma PMID:16033831|REF_RGD_ID:8547861 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with skin melanoma;DNA:missense mutation:cds:p.Q279R (human) PMID:17346338|REF_RGD_ID:8547886 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348437 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:15659795|PMID:16475674|PMID:18930813|PMID:21209944|PMID:21942447|PMID:34626302 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:8912869|REF_RGD_ID:8547928 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Animal;protein:increased expression:brain PMID:16158251|REF_RGD_ID:8547884 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731911 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Animal PMID:18676849|REF_RGD_ID:8547878 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731911 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Animal; associated with Arthritis, Experimental PMID:21859454|REF_RGD_ID:5510000 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with carcinoma, pancreatic ductal; protein:increased expression:pancreas PMID:17378244|REF_RGD_ID:2325855 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with pancreatic cancer; protein:increased expression, increased activity:pancreas PMID:12173379|REF_RGD_ID:2325749 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:1348437 D RGD:9068941 20220428 RGD associated with osteosarcoma;protein:increased expression:bone (human) PMID:26546437|REF_RGD_ID:152023746 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000998 Brain Injuries ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19631748 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000998 Brain Injuries ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:16671440|REF_RGD_ID:1582656 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9000998 Brain Injuries treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:24661104|REF_RGD_ID:13207312 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9001004 Chronic Periodontitis treatment ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Atherosclerosis PMID:24820783|REF_RGD_ID:13207324 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17304258|REF_RGD_ID:8657061 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9001044 Choroidal Neovascularization ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:12368198|REF_RGD_ID:8547840 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:25314292|REF_RGD_ID:13207327 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9001193 Metaphyseal Anadysplasia ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.M1K (c.21T>A)(human) PMID:19615667|REF_RGD_ID:13204811 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:17374579|REF_RGD_ID:1642042 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9001472 Nasal Polyps ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa PMID:23064462|REF_RGD_ID:8549735 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9001472 Nasal Polyps disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:23987197|REF_RGD_ID:8657056 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9001472 Nasal Polyps susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Asthma, Aspirin-Induced; DNA:polymorphism:promoter: -1562C>T (human) PMID:19958602|REF_RGD_ID:5130861 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9001488 Human Influenza ISO RGD:731911 D RGD:9068941 20200609 RGD protein:increased activity:lung, heart, brain PMID:20299740|REF_RGD_ID:5130855 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9001542 Albuminuria onset ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; protein:increased expression:plasma (human) PMID:9774113|REF_RGD_ID:7207214 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15095483 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:19528495|REF_RGD_ID:2325736 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:liver PMID:19539802|REF_RGD_ID:2325734 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9001627 Pathologic Constriction susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16159601|REF_RGD_ID:1582642 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20981132 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9002056 Arterial Injury treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:22552115|REF_RGD_ID:6484736 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Fatty Liver;mRNA, protein:decreased expression, decreased activity:liver PMID:17255325|REF_RGD_ID:8547976 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:repeat:promoter PMID:11576356|REF_RGD_ID:8547866 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23384615|REF_RGD_ID:13204971 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9002221 Hyperplasia ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15728660 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16606632 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9002457 Experimental Arthritis ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:cartilage, serum, synovial fluid PMID:17463159|REF_RGD_ID:1642035 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9002467 Mycoplasma Infections ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:17217365|REF_RGD_ID:1642046 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9002514 Neointima ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17964422 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9002514 Neointima treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23344254|REF_RGD_ID:13207403 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9002522 Embolism ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16720380|REF_RGD_ID:1582655 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14630814|PMID:15488484|PMID:15529013|PMID:16190367|PMID:19095969 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:17021183|REF_RGD_ID:1582637 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:9549496|REF_RGD_ID:8547909 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:731911 D RGD:9068941 20200609 RGD protein:increased expression:multiple tissues PMID:20810258|REF_RGD_ID:13204762 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:22800566|REF_RGD_ID:8547936 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:24797785|REF_RGD_ID:13204801 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9002884 Emphysema treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:22633097|REF_RGD_ID:13207325 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9002906 Multiple Organ Failure ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15259001 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9002906 Multiple Organ Failure ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:multiple tissues PMID:21964536|REF_RGD_ID:8547897 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9002906 Multiple Organ Failure ISO RGD:731911 D RGD:9068941 20200609 RGD protein:increased activity:liver, lung, spleen (mouse) PMID:15259001|REF_RGD_ID:7207133 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9002928 Colonic Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15725655 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9002928 Colonic Neoplasms ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:large intestine mucosa PMID:21268133|REF_RGD_ID:5135051 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9002928 Colonic Neoplasms disease_progression ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:20428773|REF_RGD_ID:2325778 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9003139 Cardiac Fibrosis ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental PMID:23905389|REF_RGD_ID:13204857 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9003139 Cardiac Fibrosis ISO RGD:731911 D RGD:9068941 20200609 RGD associated with Cardiomegaly;mRNA:increased expression:heart PMID:23144938|REF_RGD_ID:13204817 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9003157 Respiratory Sounds ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:brochoalveolar lavage fluid PMID:18391843|REF_RGD_ID:5130916 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9003386 Sunburn susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with skin melanoma;DNA:missense mutations:cds:p.Q279R, p.R668Q (human) PMID:17346338|REF_RGD_ID:8547886 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9003507 Premature Birth ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24429678 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9003613 Laryngeal Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:17786346|REF_RGD_ID:5130203 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa: PMID:19786210|REF_RGD_ID:5130872 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased activity:urine (human) PMID:17898039|REF_RGD_ID:7207083 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:731911 D RGD:9068941 20200609 RGD protein:increased activity:brain PMID:15364410|REF_RGD_ID:8547868 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9003870 Herpes Simplex Encephalitis treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:20483026|REF_RGD_ID:8547867 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9003871 Venous Thrombosis ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA:increased expression:femoral vein (rat) PMID:20515599|REF_RGD_ID:2325775 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9003871 Venous Thrombosis ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:16920980|REF_RGD_ID:1582648 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9003936 Cardiomegaly ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:17207419|REF_RGD_ID:1642047 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9004009 Reperfusion Injury ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9004009 Reperfusion Injury ISO RGD:621320 D RGD:9068941 20200609 RGD associated with lung injury; mRNA, protein:increased expression:lung PMID:19545667|REF_RGD_ID:5129531 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9004009 Reperfusion Injury ISO RGD:731911 D RGD:9068941 20210924 RGD PMID:16551680|REF_RGD_ID:1582618 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9004009 Reperfusion Injury ISO RGD:731911 D RGD:9068941 20210924 RGD protein:increased expression:limb muscle (mouse) PMID:16251419|REF_RGD_ID:1582631 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9004080 Aortic Rupture ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18178469 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9004237 Hyperoxic Lung Injury treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:25760549|REF_RGD_ID:13204816 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9004389 Bone Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16475674 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9004464 Skin Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9004484 Sepsis ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16003065 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9004484 Sepsis treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23479197|REF_RGD_ID:8657110 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19617202|PMID:19700239|PMID:20188714|PMID:21187089|PMID:22503731|PMID:23867902|PMID:24333868 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9004610 Acute Lung Injury ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23040778|REF_RGD_ID:13207316 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9004739 Cicatrix treatment ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Wounds, Penetrating PMID:23076999|REF_RGD_ID:13207326 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9005172 Lung Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 RGD Pulmonary Sclerosing Hemangioma; mRNA, protein:increased expression:lung PMID:17914564|REF_RGD_ID:5130173 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9005172 Lung Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with lung disease; protein:decreased expression:pleural fluid PMID:20216542|REF_RGD_ID:5129491 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21283680 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mammary gland PMID:19725228|REF_RGD_ID:2325823 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:23359979|REF_RGD_ID:8657038 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9005269 Stable Angina ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20981132 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9005372 Inflammation ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24429678|PMID:24795235 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9005372 Inflammation ISO RGD:731911 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:16489579|REF_RGD_ID:8547835 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16280123|REF_RGD_ID:1642031 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9005605 Arteriovenous Fistula ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:17398390|REF_RGD_ID:1642040 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9005605 Arteriovenous Fistula treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:23924957|REF_RGD_ID:13204800 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21963884|PMID:22191573 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:23423566|REF_RGD_ID:8547881 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17569353|REF_RGD_ID:2290354 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:23423566|REF_RGD_ID:8547881 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23089644|REF_RGD_ID:8547974 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9005941 Rhinosinusitis ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:23401274|REF_RGD_ID:8547880 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary; protein:increased expression:heart PMID:17913382|REF_RGD_ID:5130174 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9006182 Carotid Artery Injuries ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:9327785|REF_RGD_ID:8547910 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9006205 Animal Disease Models ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21051829 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:9546322|REF_RGD_ID:9685357 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased activity:lung PMID:18694576|REF_RGD_ID:5129703 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:16384971|REF_RGD_ID:8547891 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9007096 Stroke ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16690896|REF_RGD_ID:1582615 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9007096 Stroke ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:16051896|REF_RGD_ID:1582635 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9007096 Stroke ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:brain, plasma PMID:19556529|REF_RGD_ID:2325825 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22507835 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9007480 Hyperoxia ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression, decreased activity:lung PMID:15128910|REF_RGD_ID:8547972 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9007480 Hyperoxia ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:18658276|REF_RGD_ID:5130148 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9007590 Gouty Arthritis severity ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:14687896|REF_RGD_ID:8547877 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1348437 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:14700523|PMID:19617202|PMID:22011395|PMID:30090327 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9007730 Burns ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:17156757|REF_RGD_ID:1642051 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9007871 Malignant Pleural Effusions ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with pleurisy; protein:decreased activity:pleura PMID:17611666|REF_RGD_ID:5130711 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9007889 Nephrogenic Fibrosing Dermopathy ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:skin (human) PMID:20708474|REF_RGD_ID:7207047 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9007956 Febrile Seizures ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with influenza; protein:increased expression:serum PMID:17529876|REF_RGD_ID:5130920 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, intron, cds:-1590C>T, 2127G>T, p.R668Q (rs3918242, rs2274755, rs17577) (human) PMID:22237587|REF_RGD_ID:8547819 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9008212 Diabetic Foot severity ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:22688339|REF_RGD_ID:8547813 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9008225 Respirovirus Infections ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:lung PMID:16816895|REF_RGD_ID:5130923 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:22459050|REF_RGD_ID:8547829 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9008443 Colorectal Neoplasms treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23149858|REF_RGD_ID:8657112 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9008537 Polypoidal Choroidal Vasculopathy ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:23559867|REF_RGD_ID:8547885 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9008691 Liver Injury ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:10933221|REF_RGD_ID:7207088 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9008914 Lead Poisoning ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16700817 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9008939 Breast Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19617202 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9008939 Breast Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:21159820|REF_RGD_ID:8547837 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9008939 Breast Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:rs17577, rs3787268 (human) PMID:23570558|REF_RGD_ID:8547827 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:15538048|PMID:21151179|REF_RGD_ID:8547818|REF_RGD_ID:8547839 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18172859|REF_RGD_ID:2290343 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9008939 Breast Neoplasms no_association ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, CDS:rs3918241, rs2274756 (p.R668Q) (human) PMID:20725776|REF_RGD_ID:8547893 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9256 colorectal cancer ISO RGD:1348437 D RGD:9068941 20220609 RGD mRNA:increased expresion:colorectum (human) PMID:21839130|REF_RGD_ID:152985531 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9256 colorectal cancer treatment ISO RGD:1348437 D RGD:9068941 20220728 RGD human cells in mouse model PMID:32682784|REF_RGD_ID:153297782 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:24739303|REF_RGD_ID:13204791 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9282 ocular hypertension ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:eye PMID:19575923|REF_RGD_ID:2325732 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18552985|REF_RGD_ID:8547849 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:17320450|REF_RGD_ID:7207195 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23204894|REF_RGD_ID:8694120 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9470 bacterial meningitis ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:10430840|REF_RGD_ID:8547971 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9477 pulmonary embolism ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:16304337|REF_RGD_ID:1582630 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9563 bronchiectasis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:19725099|REF_RGD_ID:5129526 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9675 pulmonary emphysema ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25106431 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9675 pulmonary emphysema ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:18408070|REF_RGD_ID:5130151 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9675 pulmonary emphysema ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased activity:lung PMID:19897563|REF_RGD_ID:4892307 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9675 pulmonary emphysema treatment ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:14605041|REF_RGD_ID:8547887 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9743 diabetic neuropathy ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20213226 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731911 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:23632630|REF_RGD_ID:13204760 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9970 obesity ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21156398 12288301 MMP9 matrix metallopeptidase 9 gene DOID:9970 obesity ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17512313|REF_RGD_ID:1642026 12288323 LRPPRC leucine rich pentatricopeptide repeat containing gene DOID:0090019 sitosterolemia ISO RGD:1315270 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sitosterolemia PMID:28492532 12288323 LRPPRC leucine rich pentatricopeptide repeat containing gene DOID:0111180 French Canadian Leigh disease ISO RGD:1315270 D RGD:7240710 20180130 OMIM 12288323 LRPPRC leucine rich pentatricopeptide repeat containing gene DOID:0111180 French Canadian Leigh disease ISO RGD:1315270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cytochrome c oxidase deficiency, French Canadian type | ClinVar Annotator: match by term: Leigh syndrome, French Canadian type | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 PMID:12529507|PMID:15139850|PMID:16199547|PMID:17050673|PMID:17576681|PMID:18414213|PMID:20200222|PMID:21266382|PMID:21437181|PMID:22494076|PMID:24033266|PMID:25741868|PMID:26510951|PMID:26741492|PMID:27408822|PMID:27574110|PMID:28492532|PMID:29152527|PMID:31308188|PMID:32962729|PMID:33658040|PMID:34440436|PMID:9536098 12288323 LRPPRC leucine rich pentatricopeptide repeat containing gene DOID:1059 intellectual disability ISO RGD:1315270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 12288323 LRPPRC leucine rich pentatricopeptide repeat containing gene DOID:1826 epilepsy ISO RGD:1315270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12288323 LRPPRC leucine rich pentatricopeptide repeat containing gene DOID:3652 Leigh disease ISO RGD:1315270 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:28492532 12288323 LRPPRC leucine rich pentatricopeptide repeat containing gene DOID:3883 Lynch syndrome ISO RGD:1315270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12288323 LRPPRC leucine rich pentatricopeptide repeat containing gene DOID:630 genetic disease ISO RGD:1315270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:34440436 12288323 LRPPRC leucine rich pentatricopeptide repeat containing gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1315270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:28492532 12288365 RPS5 ribosomal protein S5 gene DOID:630 genetic disease ISO RGD:736632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288408 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:0050546 congenital adrenal insufficiency ISO RGD:735631 D RGD:7240710 20180130 OMIM 12288408 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:0050546 congenital adrenal insufficiency ISO RGD:735631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | ClinVar Annotator: match by term: Congenital Adrenal Insufficiency | ClinVar Annotator: match by term: P450scc DEFICIENCY PMID:11502818|PMID:12161514|PMID:15507506|PMID:16705068|PMID:18182448|PMID:19116240|PMID:21159840|PMID:21880796|PMID:23337730|PMID:24033266|PMID:25741868|PMID:26300845|PMID:27008691|PMID:28492532|PMID:29178636|PMID:30233493|PMID:30299480|PMID:30620006 12288408 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:735631 D RGD:9068941 20200609 RGD DNA:splice-site mutation PMID:12161514|REF_RGD_ID:1599693 12288408 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:735631 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12288408 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:10763 hypertension ISO RGD:69325 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus PMID:16116051|REF_RGD_ID:1599701 12288408 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:11446 sciatic neuropathy ISO RGD:69325 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord dorsal horn (rat) PMID:16632873|REF_RGD_ID:4889134 12288408 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:1824 status epilepticus ISO RGD:69325 D RGD:9068941 20200609 RGD Protein:increased expression:brain PMID:16780839|REF_RGD_ID:1599696 12288408 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:1924 hypogonadism ISO RGD:69325 D RGD:9068941 20200609 RGD mRNA:decreased expression:testis (rat) PMID:17880366|REF_RGD_ID:4833436 12288408 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:735631 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12288408 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:2527 nephrosis ISO RGD:69325 D RGD:9068941 20200609 RGD mRNA:decreased expression PMID:16574160|REF_RGD_ID:1599698 12288408 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:2717 Bloom syndrome ISO RGD:735631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12288408 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 12288408 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:4195 hyperglycemia ISO RGD:69325 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:ovary (rat) PMID:18353182|REF_RGD_ID:4785271 12288408 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:5419 schizophrenia ISO RGD:735631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12288408 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:735631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12288408 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:9000998 Brain Injuries ISO RGD:69325 D RGD:9068941 20200609 RGD mRNA:increased expression:hindbrain PMID:16329132|REF_RGD_ID:1599699 12288408 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:69325 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland, maternal (rat) PMID:17881205|REF_RGD_ID:4832477 12288408 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:735631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11502818 12288408 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:9003787 Lipoid Congenital Adrenal Hyperplasia ISO RGD:735631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11502818 12288408 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:9003936 Cardiomegaly ISO RGD:69325 D RGD:9068941 20200609 RGD mRNA:increased expression:cardiac muscle tissue (rat) PMID:19349910|REF_RGD_ID:4145630 12288408 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:9003936 Cardiomegaly ISO RGD:735632 D RGD:9068941 20200609 RGD mRNA:increased expression:cardiac muscle tissue (mouse) PMID:19349910|REF_RGD_ID:4145630 12288408 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69325 D RGD:9068941 20200609 RGD mRNA:decreased expression:sciatic nerve (rat) PMID:20826654|REF_RGD_ID:4145530 12288408 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:735631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23200943 12288408 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:9008622 Adrenal Insufficiency ISO RGD:735631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11502818 12288408 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:9256 colorectal cancer ISO RGD:735631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12288408 CYP11A1 cytochrome P450 family 11 subfamily A member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69325 D RGD:9068941 20200609 RGD mRNA:decreased expression:testis, Leydig cell (rat) PMID:18481435|REF_RGD_ID:4889107 12288421 NUTF2 nuclear transport factor 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1345837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12288421 NUTF2 nuclear transport factor 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12288421 NUTF2 nuclear transport factor 2 gene DOID:8947 diabetic retinopathy ISO RGD:1345837 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood: PMID:19404486|REF_RGD_ID:9831377 12288421 NUTF2 nuclear transport factor 2 gene DOID:8947 diabetic retinopathy treatment ISO RGD:1359213 D RGD:9068941 20200609 RGD PMID:19404486|REF_RGD_ID:9831377 12288436 NBR1 NBR1 autophagy cargo receptor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1322877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:19894111|PMID:23996866|PMID:24686251|PMID:28492532 12288436 NBR1 NBR1 autophagy cargo receptor gene DOID:630 genetic disease ISO RGD:1322877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288464 TSC1 TSC complex subunit 1 gene DOID:0050562 West syndrome ISO RGD:736947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18345974 12288464 TSC1 TSC complex subunit 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:21309039|PMID:22161988|PMID:22558107|PMID:22703879|PMID:23514105|PMID:23857276|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532 12288464 TSC1 TSC complex subunit 1 gene DOID:0060564 spinal disease ISO RGD:733994 D RGD:9068941 20220825 MouseDO 12288464 TSC1 TSC complex subunit 1 gene DOID:0060648 anterior segment dysgenesis ISO RGD:733994 D RGD:9068941 20220825 MouseDO 12288464 TSC1 TSC complex subunit 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:736947 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy 12288464 TSC1 TSC complex subunit 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:736947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12288464 TSC1 TSC complex subunit 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:736947 D RGD:7240710 20180130 OMIM 12288464 TSC1 TSC complex subunit 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:736947 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:10090883|PMID:10205261|PMID:10227394|PMID:10330349|PMID:10340649|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10533069|PMID:10570911|PMID:10607950|PMID:10874311|PMID:10942116|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11281455|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14597398|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15236319|PMID:15595939|PMID:15769473|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16225402|PMID:16554133|PMID:16981987|PMID:17287951|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18830229|PMID:18854862|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19419980|PMID:19747374|PMID:19763152|PMID:19918125|PMID:20082901|PMID:20165957|PMID:20185476|PMID:20307669|PMID:20399389|PMID:20547222|PMID:20633017|PMID:20877415|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22406018|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22791573|PMID:22867869|PMID:22903760|PMID:22923433|PMID:22974335|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23647917|PMID:23728315|PMID:23857276|PMID:23999528|PMID:24033266|PMID:24271014|PMID:24633152|PMID:24714658|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25117416|PMID:25326635|PMID:25401301|PMID:25498131|PMID:25525159|PMID:25640679|PMID:25722345|PMID:25741868|PMID:25782670|PMID:25889454|PMID:25900779|PMID:25927202|PMID:26226092|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26493680|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26615199|PMID:26786560|PMID:26934580|PMID:27061015|PMID:27153395|PMID:27174333|PMID:27229674|PMID:27406250|PMID:27425891|PMID:27470532|PMID:27494029|PMID:27600092|PMID:27854218|PMID:27859028|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28288225|PMID:28492532|PMID:28614114|PMID:28623545|PMID:28968464|PMID:29045506|PMID:29052576|PMID:29101226|PMID:29127155|PMID:29196670|PMID:29221145|PMID:29261847|PMID:29286531|PMID:29344138|PMID:29432982|PMID:29458892|PMID:29476190|PMID:29619247|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29706646|PMID:29740858|PMID:29932062|PMID:29960980|PMID:30093976|PMID:30182498|PMID:30548481|PMID:30794603|PMID:30842500|PMID:31484976|PMID:31525612|PMID:31586081|PMID:31664448|PMID:31832524|PMID:31855466|PMID:31856217|PMID:31911633|PMID:32005694|PMID:32091409|PMID:32203225|PMID:32211034|PMID:32238909|PMID:32313033|PMID:32368696|PMID:32461669|PMID:32555378|PMID:32655475|PMID:32917966|PMID:33181865|PMID:33532864|PMID:34008892|PMID:34799483|PMID:35918040|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605 12288464 TSC1 TSC complex subunit 1 gene DOID:0080324 tuberous sclerosis 1 treatment ISO RGD:736947 D RGD:9068941 20200609 RGD PMID:26019056|REF_RGD_ID:11570507 12288464 TSC1 TSC complex subunit 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:736947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12288464 TSC1 TSC complex subunit 1 gene DOID:0081097 Rafiq syndrome ISO RGD:736947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12288464 TSC1 TSC complex subunit 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:736947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cortical dysplasia PMID:10227394|PMID:10570911|PMID:15798777|PMID:17304050|PMID:23341583|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28968464 12288464 TSC1 TSC complex subunit 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:733994 D RGD:9068941 20220825 MouseDO OMIM:263200 12288464 TSC1 TSC complex subunit 1 gene DOID:10126 keratoconus ISO RGD:736947 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 12288464 TSC1 TSC complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:736947 D RGD:9068941 20200609 RGD associated with Tuberous Sclerosis;DNA:frameshift mutations PMID:26408672|REF_RGD_ID:11535605 12288464 TSC1 TSC complex subunit 1 gene DOID:1074 kidney failure ISO RGD:736947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal failure PMID:10227394|PMID:10570911|PMID:15798777|PMID:17304050|PMID:23341583|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28968464 12288464 TSC1 TSC complex subunit 1 gene DOID:11054 urinary bladder cancer ISO RGD:736947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11112665|PMID:11208653|PMID:11329144|PMID:12111193|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16981987|PMID:17304050|PMID:18032745|PMID:18397877|PMID:18772611|PMID:18830229|PMID:19139070|PMID:20547222|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21811971|PMID:22490766|PMID:22703879|PMID:22707517|PMID:22923433|PMID:23254740|PMID:23401075|PMID:24033266|PMID:24633152|PMID:24728327|PMID:25525159|PMID:25741868|PMID:25889454|PMID:25900779|PMID:26231267|PMID:26332594|PMID:26467025|PMID:27061015|PMID:27425891|PMID:27494029|PMID:28087349|PMID:28492532|PMID:29221145|PMID:29655203|PMID:29932062|PMID:32211034|PMID:9242607|PMID:9328481|PMID:9803264|PMID:9863590|PMID:9924605 12288464 TSC1 TSC complex subunit 1 gene DOID:12849 autistic disorder ISO RGD:736947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18067135 12288464 TSC1 TSC complex subunit 1 gene DOID:13515 tuberous sclerosis ISO RGD:736947 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis syndrome PMID:10090883|PMID:10205261|PMID:10227394|PMID:10330349|PMID:10340649|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10533069|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15236319|PMID:15595939|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18830229|PMID:18854862|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19419980|PMID:19747374|PMID:19918125|PMID:20165957|PMID:20185476|PMID:20399389|PMID:20498439|PMID:20547222|PMID:20633017|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22791573|PMID:22867869|PMID:22903760|PMID:22923433|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23728315|PMID:23857276|PMID:24033266|PMID:24633152|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25117416|PMID:25326635|PMID:25498131|PMID:25525159|PMID:25722345|PMID:25741868|PMID:25900779|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26493680|PMID:26540169|PMID:26580448|PMID:27061015|PMID:27153395|PMID:27425891|PMID:27470532|PMID:27494029|PMID:27600092|PMID:27854218|PMID:27859028|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28291513|PMID:28492532|PMID:28614114|PMID:28968464|PMID:29101226|PMID:29127155|PMID:29196670|PMID:29221145|PMID:29261847|PMID:29286531|PMID:29432982|PMID:29458892|PMID:29655203|PMID:29706646|PMID:29740858|PMID:29932062|PMID:29960980|PMID:30548481|PMID:30581017|PMID:31525612|PMID:31664448|PMID:31855466|PMID:32211034|PMID:32238909|PMID:32313033|PMID:32461669|PMID:32555378|PMID:34799483|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605 12288464 TSC1 TSC complex subunit 1 gene DOID:13515 tuberous sclerosis susceptibility ISO RGD:736947 D RGD:9068941 20200609 RGD DNA:nonsense mutations, deletion: :multiple PMID:9242607|REF_RGD_ID:1624196 12288464 TSC1 TSC complex subunit 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12288464 TSC1 TSC complex subunit 1 gene DOID:1561 cognitive disorder ISO RGD:736947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18067135 12288464 TSC1 TSC complex subunit 1 gene DOID:1612 breast cancer ISO RGD:736947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10353610|PMID:10363127|PMID:10533067|PMID:10570911|PMID:10607950|PMID:11208653|PMID:12111193|PMID:14633685|PMID:16114042|PMID:16981987|PMID:17304050|PMID:18772611|PMID:21510812|PMID:21811971|PMID:22703879|PMID:23254740|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9328481|PMID:9803264|PMID:9863590|PMID:9924605 12288464 TSC1 TSC complex subunit 1 gene DOID:1612 breast cancer disease_progression ISO RGD:736947 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast PMID:15951164|REF_RGD_ID:11568707 12288464 TSC1 TSC complex subunit 1 gene DOID:1749 squamous cell carcinoma ISO RGD:736947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18538015 12288464 TSC1 TSC complex subunit 1 gene DOID:1826 epilepsy ISO RGD:736947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:10227394|PMID:10363127|PMID:10533067|PMID:11112665|PMID:12015165|PMID:14756965|PMID:15798777|PMID:16981987|PMID:17304050|PMID:18032745|PMID:21520333|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29286531|PMID:32211034|PMID:32238909|PMID:9242607|PMID:9328481|PMID:9803264|PMID:9863590|PMID:9924605 12288464 TSC1 TSC complex subunit 1 gene DOID:2394 ovarian cancer ISO RGD:736947 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:28492532|PMID:32211034 12288464 TSC1 TSC complex subunit 1 gene DOID:3070 high grade glioma ISO RGD:736947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:25741868 12288464 TSC1 TSC complex subunit 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736947 D RGD:7240710 20180130 OMIM 12288464 TSC1 TSC complex subunit 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lymphangiomyomatosis PMID:10090883|PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10533069|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11829138|PMID:12015165|PMID:12111193|PMID:12773163|PMID:12853839|PMID:14633685|PMID:14756965|PMID:15798777|PMID:16114042|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18772611|PMID:18830229|PMID:19419980|PMID:19747374|PMID:20399389|PMID:20547222|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22903760|PMID:22923433|PMID:23254740|PMID:23401075|PMID:23514105|PMID:24033266|PMID:24633152|PMID:24728327|PMID:25525159|PMID:25722345|PMID:25741868|PMID:25900779|PMID:26231267|PMID:26467025|PMID:26540169|PMID:26580448|PMID:27061015|PMID:27425891|PMID:27494029|PMID:28087349|PMID:28492532|PMID:28614114|PMID:29221145|PMID:29286531|PMID:29619247|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29932062|PMID:29960980|PMID:30842500|PMID:5279523|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605 12288464 TSC1 TSC complex subunit 1 gene DOID:3652 Leigh disease ISO RGD:736947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12288464 TSC1 TSC complex subunit 1 gene DOID:3840 craniopharyngioma ISO RGD:736947 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Craniopharyngioma PMID:22161988|PMID:25741868|PMID:28492532|PMID:29684080 12288464 TSC1 TSC complex subunit 1 gene DOID:4450 renal cell carcinoma ISO RGD:736947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 12288464 TSC1 TSC complex subunit 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736947 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:16909113|REF_RGD_ID:11570509 12288464 TSC1 TSC complex subunit 1 gene DOID:4905 pancreatic carcinoma ISO RGD:733994 D RGD:9068941 20200609 RGD PMID:25425965|REF_RGD_ID:11570510 12288464 TSC1 TSC complex subunit 1 gene DOID:630 genetic disease ISO RGD:736947 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12288464 TSC1 TSC complex subunit 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499249 12288464 TSC1 TSC complex subunit 1 gene DOID:769 neuroblastoma ISO RGD:736947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:25741868 12288464 TSC1 TSC complex subunit 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:736947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17484760 12288464 TSC1 TSC complex subunit 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:733994 D RGD:9068941 20200609 RGD PMID:11438694|REF_RGD_ID:11570508 12288464 TSC1 TSC complex subunit 1 gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:736947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primitive neuroectodermal tumor PMID:16554133|PMID:21309039|PMID:22703879|PMID:25077650|PMID:25741868|PMID:27153395|PMID:28492532 12288464 TSC1 TSC complex subunit 1 gene DOID:9005172 Lung Neoplasms ISO RGD:733994 D RGD:9068941 20200609 RGD PMID:19966866|REF_RGD_ID:11568678 12288464 TSC1 TSC complex subunit 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736947 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10607950|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15798777|PMID:16114042|PMID:16554133|PMID:16981987|PMID:17304050|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18830229|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19747374|PMID:19918125|PMID:20165957|PMID:20547222|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22791573|PMID:22903760|PMID:22974335|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23514105|PMID:23857276|PMID:24033266|PMID:24633152|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25498131|PMID:25525159|PMID:25741868|PMID:25900779|PMID:26226092|PMID:26332594|PMID:26467025|PMID:26563443|PMID:26580448|PMID:26786560|PMID:27153395|PMID:27425891|PMID:27470532|PMID:27600092|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28492532|PMID:28968464|PMID:29261847|PMID:29458892|PMID:29706646|PMID:29740858|PMID:30093976|PMID:31856217|PMID:32211034|PMID:32238909|PMID:32917966|PMID:9242607|PMID:9328481|PMID:9803264|PMID:9863590|PMID:9924605 12288464 TSC1 TSC complex subunit 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736947 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15769473|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18830229|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19747374|PMID:19918125|PMID:20165957|PMID:20547222|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22791573|PMID:22903760|PMID:22923433|PMID:22974335|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23728315|PMID:23857276|PMID:24033266|PMID:24633152|PMID:24714658|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25401301|PMID:25498131|PMID:25525159|PMID:25741868|PMID:25900779|PMID:26226092|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26615199|PMID:26786560|PMID:26934580|PMID:27061015|PMID:27153395|PMID:27229674|PMID:27425891|PMID:27470532|PMID:27494029|PMID:27600092|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28492532|PMID:28614114|PMID:28968464|PMID:29221145|PMID:29261847|PMID:29344138|PMID:29458892|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29706646|PMID:29740858|PMID:29932062|PMID:29960980|PMID:30093976|PMID:30548481|PMID:30842500|PMID:31484976|PMID:31586081|PMID:31832524|PMID:31856217|PMID:31911633|PMID:32091409|PMID:32211034|PMID:32238909|PMID:32461669|PMID:32917966|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605 12288464 TSC1 TSC complex subunit 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736947 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15769473|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18830229|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19747374|PMID:19918125|PMID:20165957|PMID:20547222|PMID:20633017|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22791573|PMID:22923433|PMID:22974335|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23728315|PMID:23857276|PMID:23999528|PMID:24033266|PMID:24633152|PMID:24714658|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25401301|PMID:25498131|PMID:25525159|PMID:25722345|PMID:25741868|PMID:25900779|PMID:26226092|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26615199|PMID:26786560|PMID:26934580|PMID:27061015|PMID:27153395|PMID:27229674|PMID:27425891|PMID:27470532|PMID:27494029|PMID:27600092|PMID:27854218|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28288225|PMID:28492532|PMID:28614114|PMID:28968464|PMID:29221145|PMID:29261847|PMID:29344138|PMID:29458892|PMID:29619247|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29706646|PMID:29740858|PMID:29932062|PMID:29960980|PMID:30093976|PMID:30548481|PMID:30842500|PMID:31484976|PMID:31525612|PMID:31586081|PMID:31664448|PMID:31832524|PMID:31856217|PMID:31911633|PMID:32091409|PMID:32211034|PMID:32238909|PMID:32313033|PMID:32461669|PMID:32917966|PMID:34799483|PMID:35918040|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605 12288464 TSC1 TSC complex subunit 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:736947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18538015 12288464 TSC1 TSC complex subunit 1 gene DOID:9007692 Insulin Resistance ISO RGD:733994 D RGD:9068941 20200609 RGD PMID:15380067|REF_RGD_ID:1624197 12288464 TSC1 TSC complex subunit 1 gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:736947 D RGD:7240710 20180130 OMIM 12288464 TSC1 TSC complex subunit 1 gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:736947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia type 2 | ClinVar Annotator: match by term: Focal cortical dysplasia type II PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533067|PMID:10570911|PMID:10607950|PMID:11208653|PMID:11329144|PMID:12015165|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:15798777|PMID:16114042|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18830229|PMID:19139070|PMID:19175396|PMID:19747374|PMID:19918125|PMID:20165957|PMID:21309039|PMID:21510812|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22558107|PMID:22703879|PMID:22995991|PMID:23254740|PMID:23389244|PMID:23514105|PMID:23857276|PMID:24033266|PMID:24633152|PMID:24728327|PMID:25077650|PMID:25741868|PMID:25900779|PMID:26332594|PMID:26467025|PMID:26580448|PMID:27153395|PMID:27425891|PMID:28215400|PMID:28492532|PMID:29706646|PMID:30548481|PMID:31664448|PMID:31856217|PMID:32917966|PMID:34799483|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605 12288464 TSC1 TSC complex subunit 1 gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:736947 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533067|PMID:10570911|PMID:10607950|PMID:11208653|PMID:11329144|PMID:12111193|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:16114042|PMID:16981987|PMID:17304050|PMID:18397877|PMID:18772611|PMID:19139070|PMID:21309039|PMID:21510812|PMID:21811971|PMID:22703879|PMID:23254740|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28492532|PMID:9328481|PMID:9803264|PMID:9863590|PMID:9924605 12288464 TSC1 TSC complex subunit 1 gene DOID:9119 acute myeloid leukemia ISO RGD:736947 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868|PMID:26580448|PMID:28492532 12288464 TSC1 TSC complex subunit 1 gene DOID:936 brain disease ISO RGD:736947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21062901 12288464 TSC1 TSC complex subunit 1 gene DOID:9970 obesity ISO RGD:620124 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:25807795|REF_RGD_ID:11570513 12288501 PELI1 pellino E3 ubiquitin protein ligase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1322532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12288501 PELI1 pellino E3 ubiquitin protein ligase 1 gene DOID:37 skin disease ISO RGD:1322532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12288501 PELI1 pellino E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1322532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288501 PELI1 pellino E3 ubiquitin protein ligase 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1322532 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 12288501 PELI1 pellino E3 ubiquitin protein ligase 1 gene DOID:9007964 Arsenic Poisoning ISO RGD:1322532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12288501 PELI1 pellino E3 ubiquitin protein ligase 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1322532 D RGD:9068941 20220617 RGD DNA:SNP:exon: (rs329497) (human) PMID:33470690|REF_RGD_ID:152995405 12288518 CNTLN centlein gene DOID:13938 amenorrhea ISO RGD:1317678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12288518 CNTLN centlein gene DOID:630 genetic disease ISO RGD:1317678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288549 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:0050440 familial partial lipodystrophy ISO RGD:1313678 D RGD:9068941 20220825 MouseDO OMIM:151660 | OMIM:604367 | OMIM:608600 | OMIM:613877 | OMIM:615238 12288549 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:0060762 restrictive dermopathy ISO RGD:1313677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal hypokinesia sequence due to restrictive dermopathy | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome PMID:12913070|PMID:15317753|PMID:15843403|PMID:15937076|PMID:16297189|PMID:17152860|PMID:17576681|PMID:18414213|PMID:18435794|PMID:18671782|PMID:19020898|PMID:19139791|PMID:19504603|PMID:19645629|PMID:19680556|PMID:20034068|PMID:20101687|PMID:20635340|PMID:21108632|PMID:21121943|PMID:21488301|PMID:21831885|PMID:22495976|PMID:22718200|PMID:22981120|PMID:24169522|PMID:25629449|PMID:25741868|PMID:26379196|PMID:28492532|PMID:3840649|PMID:8152880|PMID:9536098 12288549 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:0070369 restrictive dermopathy 1 ISO RGD:1313677 D RGD:7240710 20230505 OMIM 12288549 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:0070369 restrictive dermopathy 1 ISO RGD:1313677 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 1, LETHAL PMID:12913070|PMID:15317753|PMID:15843403|PMID:15937076|PMID:16297189|PMID:17152860|PMID:19020898|PMID:19139791|PMID:20034068|PMID:20635340|PMID:21108632|PMID:21121943|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:3840649|PMID:8152880 12288549 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:0081127 mandibuloacral dysplasia ISO RGD:1313677 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Mandibuloacral dysplasia 12288549 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:0081129 mandibuloacral dysplasia type B lipodystrophy ISO RGD:1313677 D RGD:7240710 20180130 OMIM 12288549 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:0081129 mandibuloacral dysplasia type B lipodystrophy ISO RGD:1313677 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy PMID:12913070|PMID:15317753|PMID:15843403|PMID:15937076|PMID:16297189|PMID:17152860|PMID:17576681|PMID:18414213|PMID:18435794|PMID:19020898|PMID:19139791|PMID:19383993|PMID:19504603|PMID:19645629|PMID:19680556|PMID:20034068|PMID:20635340|PMID:20814950|PMID:21108632|PMID:21121943|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:3840649|PMID:8152880|PMID:9536098 12288549 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12288549 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1313678 D RGD:9068941 20220825 MouseDO OMIM:181350 | OMIM:300696 | OMIM:310300 | OMIM:612998 | OMIM:612999 | OMIM:614302 12288549 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1313677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17152860 12288549 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:3911 progeria ISO RGD:1313677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23217256 12288549 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:3911 progeria ISO RGD:1313678 D RGD:9068941 20220825 MouseDO OMIM:176670 12288549 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:630 genetic disease ISO RGD:1313677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288549 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:811 lipodystrophy ISO RGD:1313677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12913070 12288549 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:811 lipodystrophy ISO RGD:1313678 D RGD:9068941 20200609 RGD PMID:21828285|REF_RGD_ID:10043099 12288549 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:9001402 Acro-Osteolysis ISO RGD:1313677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12913070|PMID:17152860 12288549 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:9002644 Premature Aging ISO RGD:1313678 D RGD:9068941 20200609 RGD PMID:19014358|REF_RGD_ID:10043096 12288549 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:9006105 Craniomandibular Disorders ISO RGD:1313678 D RGD:9068941 20200609 RGD PMID:19014358|REF_RGD_ID:10043096 12288549 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:9006309 Mandibular Diseases ISO RGD:1313677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12913070 12288549 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1313677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17152860 12288549 ZMPSTE24 zinc metallopeptidase STE24 gene DOID:9008856 HIV-Associated Lipodystrophy Syndrome ISO RGD:1313677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18230615 12288563 KCNG3 potassium voltage-gated channel modifier subfamily G member 3 gene DOID:3883 Lynch syndrome ISO RGD:735863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12288563 KCNG3 potassium voltage-gated channel modifier subfamily G member 3 gene DOID:630 genetic disease ISO RGD:735863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288582 LPXN leupaxin gene DOID:1059 intellectual disability ISO RGD:1312734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12288582 LPXN leupaxin gene DOID:630 genetic disease ISO RGD:1312734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288582 LPXN leupaxin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12288644 GIPC3 GIPC PDZ domain containing family member 3 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1606469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 12288644 GIPC3 GIPC PDZ domain containing family member 3 gene DOID:0110470 autosomal recessive nonsyndromic deafness 15 ISO RGD:1606469 D RGD:7240710 20180130 OMIM 12288644 GIPC3 GIPC PDZ domain containing family member 3 gene DOID:0110470 autosomal recessive nonsyndromic deafness 15 ISO RGD:1606469 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 95 | ClinVar Annotator: match by term: Deafness, autosomal recessive 15 PMID:17690910|PMID:21326233|PMID:21660509|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:32682410|PMID:9286457 12288644 GIPC3 GIPC PDZ domain containing family member 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1606469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:23510777|PMID:24033266|PMID:25741868 12288644 GIPC3 GIPC PDZ domain containing family member 3 gene DOID:630 genetic disease ISO RGD:1606469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12288644 GIPC3 GIPC PDZ domain containing family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12288644 GIPC3 GIPC PDZ domain containing family member 3 gene DOID:9004538 Hearing Loss ISO RGD:1606469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386|PMID:32682410 12288654 RBPJL recombination signal binding protein for immunoglobulin kappa J region like gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1312429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 12288654 RBPJL recombination signal binding protein for immunoglobulin kappa J region like gene DOID:2234 focal epilepsy ISO RGD:1312429 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12288654 RBPJL recombination signal binding protein for immunoglobulin kappa J region like gene DOID:630 genetic disease ISO RGD:1312429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288654 RBPJL recombination signal binding protein for immunoglobulin kappa J region like gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1312429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12288654 RBPJL recombination signal binding protein for immunoglobulin kappa J region like gene DOID:9352 type 2 diabetes mellitus ISO RGD:1312429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 12288666 LOC487083 lysozyme-like protein 1 gene DOID:630 genetic disease ISO RGD:1350038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288677 GJD2 gap junction protein delta 2 gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:733205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 PMID:18458017|PMID:27125413|PMID:28492532 12288677 GJD2 gap junction protein delta 2 gene DOID:11830 myopia ISO RGD:733205 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 12288677 GJD2 gap junction protein delta 2 gene DOID:2717 Bloom syndrome ISO RGD:733205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12288677 GJD2 gap junction protein delta 2 gene DOID:630 genetic disease ISO RGD:733205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288677 GJD2 gap junction protein delta 2 gene DOID:9004756 Brain Hypoxia ISO RGD:2694 D RGD:9068941 20200609 RGD PMID:20034754|REF_RGD_ID:7364784 12288677 GJD2 gap junction protein delta 2 gene DOID:9256 colorectal cancer ISO RGD:733205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12288677 GJD2 gap junction protein delta 2 gene DOID:9835 refractive error ISO RGD:733205 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20835239 12288683 CCPG1 cell cycle progression 1 gene DOID:0060833 Griscelli syndrome type 2 ISO RGD:1322623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 2 PMID:28492532 12288683 CCPG1 cell cycle progression 1 gene DOID:0112216 developmental and epileptic encephalopathy 80 ISO RGD:1322623 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 80 PMID:25741868|PMID:28492532|PMID:31256876 12288683 CCPG1 cell cycle progression 1 gene DOID:2717 Bloom syndrome ISO RGD:1322623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12288683 CCPG1 cell cycle progression 1 gene DOID:630 genetic disease ISO RGD:1322623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288683 CCPG1 cell cycle progression 1 gene DOID:9256 colorectal cancer ISO RGD:1322623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12288715 ITGAV integrin subunit alpha V gene DOID:0050852 limb ischemia ISO RGD:1617623 D RGD:9068941 20200609 RGD PMID:15750161|REF_RGD_ID:1582449 12288715 ITGAV integrin subunit alpha V gene DOID:10763 hypertension ISO RGD:1310613 D RGD:9068941 20200609 RGD protein:increased expression:artery PMID:16380536|REF_RGD_ID:1627642 12288715 ITGAV integrin subunit alpha V gene DOID:11382 corneal neovascularization ISO RGD:1310613 D RGD:9068941 20200609 RGD PMID:10664059|REF_RGD_ID:1582461 12288715 ITGAV integrin subunit alpha V gene DOID:326 ischemia ISO RGD:1310613 D RGD:9068941 20200609 RGD PMID:15956135|REF_RGD_ID:1582457 12288715 ITGAV integrin subunit alpha V gene DOID:4195 hyperglycemia ISO RGD:1321618 D RGD:9068941 20200609 RGD mRNA:increased expression:blood vessel endothelial cell PMID:11848444|REF_RGD_ID:1627644 12288715 ITGAV integrin subunit alpha V gene DOID:4248 coronary stenosis ISO RGD:1310613 D RGD:9068941 20200609 RGD PMID:11922905|REF_RGD_ID:1582454 12288715 ITGAV integrin subunit alpha V gene DOID:630 genetic disease ISO RGD:1321618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288715 ITGAV integrin subunit alpha V gene DOID:7693 abdominal aortic aneurysm ISO RGD:1321618 D RGD:9068941 20200609 RGD PMID:16809548|REF_RGD_ID:1582446 12288715 ITGAV integrin subunit alpha V gene DOID:9001044 Choroidal Neovascularization ISO RGD:1310613 D RGD:9068941 20200609 RGD PMID:15287373|REF_RGD_ID:1582458 12288715 ITGAV integrin subunit alpha V gene DOID:9002170 Experimental Neoplasms treatment ISO RGD:1321618 D RGD:9068941 20220708 RGD human cells in rat model PMID:20841470|REF_RGD_ID:152998949 12288715 ITGAV integrin subunit alpha V gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1321618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9445356 12288715 ITGAV integrin subunit alpha V gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1321618 D RGD:9068941 20200609 RGD PMID:16102435|REF_RGD_ID:1582447 12288715 ITGAV integrin subunit alpha V gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12288715 ITGAV integrin subunit alpha V gene DOID:9006646 Metabolic Syndrome ISO RGD:1321618 D RGD:9068941 20200609 RGD PMID:16784924|REF_RGD_ID:1627640 12288715 ITGAV integrin subunit alpha V gene DOID:9007096 Stroke ISO RGD:1321618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9445356 12288715 ITGAV integrin subunit alpha V gene DOID:9007102 Myocardial Ischemia ISO RGD:1321618 D RGD:9068941 20200609 RGD PMID:11997283|REF_RGD_ID:1582453 12288715 ITGAV integrin subunit alpha V gene DOID:9007748 Retinal Neovascularization ISO RGD:1617623 D RGD:9068941 20200609 RGD PMID:12063036|REF_RGD_ID:1582452 12288715 ITGAV integrin subunit alpha V gene DOID:9009121 lung metastasis treatment ISO RGD:1321618 D RGD:9068941 20220708 RGD human cells in rat model PMID:20841470|REF_RGD_ID:152998949 12288715 ITGAV integrin subunit alpha V gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1321618 D RGD:9068941 20200609 RGD PMID:23770013|REF_RGD_ID:10755448 12288748 OR10G6 olfactory receptor family 10 subfamily G member 6 gene DOID:5419 schizophrenia ISO RGD:1354122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12288770 STON2 stonin 2 gene DOID:630 genetic disease ISO RGD:1604566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288781 UBAC1 UBA domain containing 1 gene DOID:0050777 Joubert syndrome ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12288781 UBAC1 UBA domain containing 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:27891178|PMID:28492532|PMID:31209758 12288781 UBAC1 UBA domain containing 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1346576 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12288781 UBAC1 UBA domain containing 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1346576 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12288781 UBAC1 UBA domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12288781 UBAC1 UBA domain containing 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1346576 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12288781 UBAC1 UBA domain containing 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1346576 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12288781 UBAC1 UBA domain containing 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12288781 UBAC1 UBA domain containing 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12288781 UBAC1 UBA domain containing 1 gene DOID:3652 Leigh disease ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12288781 UBAC1 UBA domain containing 1 gene DOID:630 genetic disease ISO RGD:1346576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288781 UBAC1 UBA domain containing 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 12288794 TBCD tubulin folding cofactor D gene DOID:0060455 Thiel-Behnke corneal dystrophy ISO RGD:1317676 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thiel-Behnke corneal dystrophy PMID:25741868|PMID:28492532 12288794 TBCD tubulin folding cofactor D gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1317676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27666370 12288794 TBCD tubulin folding cofactor D gene DOID:1059 intellectual disability ISO RGD:1317676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27666370 12288794 TBCD tubulin folding cofactor D gene DOID:10907 microcephaly ISO RGD:1317676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27666370|PMID:27666374 12288794 TBCD tubulin folding cofactor D gene DOID:11162 respiratory failure ISO RGD:1317676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27666374 12288794 TBCD tubulin folding cofactor D gene DOID:12835 quadriplegia ISO RGD:1317676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27666370 12288794 TBCD tubulin folding cofactor D gene DOID:1289 neurodegenerative disease ISO RGD:1317676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27666370 12288794 TBCD tubulin folding cofactor D gene DOID:5723 optic atrophy ISO RGD:1317676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27666370 12288794 TBCD tubulin folding cofactor D gene DOID:630 genetic disease ISO RGD:1317676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33190326 12288794 TBCD tubulin folding cofactor D gene DOID:9000707 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM ISO RGD:1317676 D RGD:7240710 20190315 OMIM 12288794 TBCD tubulin folding cofactor D gene DOID:9000707 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM ISO RGD:1317676 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum PMID:16199547|PMID:25741868|PMID:27666370|PMID:27666374|PMID:27807845|PMID:28158450|PMID:28492532|PMID:29769041|PMID:30426380|PMID:31019026|PMID:31240573|PMID:31395954|PMID:31569255|PMID:32705489|PMID:33190326|PMID:34120799|PMID:35586607 12288794 TBCD tubulin folding cofactor D gene DOID:9001638 Seborrhea-Like Dermatitis with Psoriasiform Elements ISO RGD:1317676 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seborrhea-like dermatitis with psoriasiform elements PMID:16751772|PMID:25741868 12288794 TBCD tubulin folding cofactor D gene DOID:9005532 Muscle Weakness ISO RGD:1317676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27666374 12288794 TBCD tubulin folding cofactor D gene DOID:9008086 Developmental Disabilities ISO RGD:1317676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27666370 12288795 UCK1 uridine-cytidine kinase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1318012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12288795 UCK1 uridine-cytidine kinase 1 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1318012 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy 12288795 UCK1 uridine-cytidine kinase 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1318012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12288795 UCK1 uridine-cytidine kinase 1 gene DOID:573 nerve compression syndrome ISO RGD:1308313 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord ventral horn (rat) PMID:10581173|REF_RGD_ID:634248 12288795 UCK1 uridine-cytidine kinase 1 gene DOID:630 genetic disease ISO RGD:1318012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288805 JAK3 Janus kinase 3 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:737593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23832011 12288805 JAK3 Janus kinase 3 gene DOID:0050458 juvenile myelomonocytic leukemia disease_progression ISO RGD:737593 D RGD:9068941 20200609 RGD PMID:23832011|REF_RGD_ID:11069125 12288805 JAK3 Janus kinase 3 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:737593 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human) PMID:21821710|REF_RGD_ID:11531131 12288805 JAK3 Janus kinase 3 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:2940 D RGD:9068941 20200609 RGD PMID:26860129|REF_RGD_ID:11531126 12288805 JAK3 Janus kinase 3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:737593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12288805 JAK3 Janus kinase 3 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 12288805 JAK3 Janus kinase 3 gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma ISO RGD:737593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22705984|PMID:23689514 12288805 JAK3 Janus kinase 3 gene DOID:0081042 T-cell prolymphocytic leukemia ISO RGD:737593 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:pM511I, p.R657Q (human) PMID:24446122|REF_RGD_ID:11531125 12288805 JAK3 Janus kinase 3 gene DOID:0081267 graft-versus-host disease treatment ISO RGD:10824 D RGD:9068941 20200609 RGD PMID:12010825|REF_RGD_ID:11531124 12288805 JAK3 Janus kinase 3 gene DOID:0081267 graft-versus-host disease treatment ISO RGD:2940 D RGD:9068941 20200609 RGD PMID:11781254|REF_RGD_ID:1600262 12288805 JAK3 Janus kinase 3 gene DOID:0081312 T-cell non-Hodgkin lymphoma treatment ISO RGD:737593 D RGD:9068941 20200609 RGD PMID:24153015|REF_RGD_ID:11531129 12288805 JAK3 Janus kinase 3 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:737593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:11741532|PMID:11781709|PMID:14615376|PMID:16199547|PMID:16843266|PMID:17252020|PMID:17433830|PMID:17456055|PMID:17576681|PMID:17644747|PMID:18270328|PMID:18397343|PMID:18845095|PMID:19203666|PMID:19282076|PMID:20132407|PMID:20372971|PMID:20400977|PMID:20417861|PMID:21050946|PMID:21184155|PMID:21228398|PMID:21599579|PMID:21821710|PMID:21868263|PMID:22237106|PMID:22425895|PMID:23384681|PMID:23832011|PMID:24033266|PMID:24139496|PMID:24446122|PMID:24728327|PMID:25146434|PMID:25157968|PMID:25193870|PMID:25333069|PMID:25395141|PMID:25505553|PMID:25595890|PMID:25672756|PMID:25741868|PMID:25815310|PMID:26915675|PMID:27484032|PMID:27577878|PMID:27593409|PMID:28109013|PMID:28492532|PMID:28747913|PMID:28916186|PMID:29375547|PMID:30697212|PMID:31440277|PMID:31589898|PMID:32445296|PMID:33040328|PMID:33365035|PMID:7481768|PMID:7659163|PMID:9354668|PMID:9536098|PMID:9753072 12288805 JAK3 Janus kinase 3 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:737593 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:11741532|PMID:11781709|PMID:14615376|PMID:16199547|PMID:16843266|PMID:17252020|PMID:17433830|PMID:17456055|PMID:17576681|PMID:17644747|PMID:18270328|PMID:18397343|PMID:18845095|PMID:19203666|PMID:19282076|PMID:20132407|PMID:20372971|PMID:20400977|PMID:20417861|PMID:21050946|PMID:21184155|PMID:21228398|PMID:21599579|PMID:21821710|PMID:21868263|PMID:22237106|PMID:22425895|PMID:23384681|PMID:23832011|PMID:24033266|PMID:24139496|PMID:24446122|PMID:24728327|PMID:25146434|PMID:25157968|PMID:25193870|PMID:25333069|PMID:25395141|PMID:25505553|PMID:25595890|PMID:25672756|PMID:25741868|PMID:25815310|PMID:28109013|PMID:28492532|PMID:28916186|PMID:29375547|PMID:30697212|PMID:30778343|PMID:31440277|PMID:31589898|PMID:32445296|PMID:33040328|PMID:33365035|PMID:7481768|PMID:7659163|PMID:9354668|PMID:9536098|PMID:9753072 12288805 JAK3 Janus kinase 3 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:737593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:11741532|PMID:11781709|PMID:14615376|PMID:16199547|PMID:16843266|PMID:17252020|PMID:17433830|PMID:17456055|PMID:17576681|PMID:17644747|PMID:18270328|PMID:18397343|PMID:18845095|PMID:19203666|PMID:19282076|PMID:20132407|PMID:20372971|PMID:20400977|PMID:20417861|PMID:21050946|PMID:21184155|PMID:21228398|PMID:21599579|PMID:21821710|PMID:21868263|PMID:22237106|PMID:22425895|PMID:23069490|PMID:23384681|PMID:23832011|PMID:24033266|PMID:24139496|PMID:24446122|PMID:24728327|PMID:25146434|PMID:25157968|PMID:25193870|PMID:25333069|PMID:25395141|PMID:25505553|PMID:25595890|PMID:25672756|PMID:25741868|PMID:25815310|PMID:26321643|PMID:26545580|PMID:26769277|PMID:26915675|PMID:27484032|PMID:27577878|PMID:27593409|PMID:28109013|PMID:28492532|PMID:28747913|PMID:28916186|PMID:29049190|PMID:29375547|PMID:30177960|PMID:30697212|PMID:30778343|PMID:31440277|PMID:31589898|PMID:32135276|PMID:32215810|PMID:32445296|PMID:32754152|PMID:33040328|PMID:33365035|PMID:7481768|PMID:7659163|PMID:9354668|PMID:9536098|PMID:9753072 12288805 JAK3 Janus kinase 3 gene DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ISO RGD:10824 D RGD:9068941 20220825 MouseDO OMIM:608971 12288805 JAK3 Janus kinase 3 gene DOID:14069 cerebral malaria ISO RGD:10824 D RGD:9068941 20200609 RGD PMID:22363534|REF_RGD_ID:11531103 12288805 JAK3 Janus kinase 3 gene DOID:2226 myeloproliferative neoplasm ISO RGD:737593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm PMID:16843266|PMID:20372971|PMID:20385788|PMID:22271575|PMID:25157968 12288805 JAK3 Janus kinase 3 gene DOID:2476 hereditary spastic paraplegia ISO RGD:737593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 12288805 JAK3 Janus kinase 3 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:737593 D RGD:9068941 20200609 RGD PMID:25193870|REF_RGD_ID:11531122 12288805 JAK3 Janus kinase 3 gene DOID:5810 adenosine deaminase deficiency ISO RGD:737593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bubble boy disease PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:14615376|PMID:17433830|PMID:17644747|PMID:19203666|PMID:21184155|PMID:23384681|PMID:25146434|PMID:25741868|PMID:28492532|PMID:30697212|PMID:32754152|PMID:33365035|PMID:9354668|PMID:9753072 12288805 JAK3 Janus kinase 3 gene DOID:614 lymphopenia ISO RGD:737593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lymphopenia PMID:25741868|PMID:28492532 12288805 JAK3 Janus kinase 3 gene DOID:627 severe combined immunodeficiency ISO RGD:737593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:14615376|PMID:17433830|PMID:17644747|PMID:18559588|PMID:19203666|PMID:21184155|PMID:23384681|PMID:25146434|PMID:25741868|PMID:28492532|PMID:30697212|PMID:32754152|PMID:33365035|PMID:9354668|PMID:9753072 12288805 JAK3 Janus kinase 3 gene DOID:627 severe combined immunodeficiency treatment ISO RGD:10824 D RGD:9068941 20200609 RGD PMID:9427607|REF_RGD_ID:11531109 12288805 JAK3 Janus kinase 3 gene DOID:630 genetic disease ISO RGD:737593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12288805 JAK3 Janus kinase 3 gene DOID:707 B-cell lymphoma ISO RGD:737593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24837469 12288805 JAK3 Janus kinase 3 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:737593 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia | ClinVar Annotator: match by term: Acute megakaryocytic leukemia PMID:10982185|PMID:16843266|PMID:18270328|PMID:18397343|PMID:20132407|PMID:20372971|PMID:20385788|PMID:20400977|PMID:21599579|PMID:21821710|PMID:22271575|PMID:24728327|PMID:25157968|PMID:25741868|PMID:28492532 12288805 JAK3 Janus kinase 3 gene DOID:9000197 Edema treatment ISO RGD:10824 D RGD:9068941 20200609 RGD associated with Hypersensitivity, Delayed PMID:25762693|REF_RGD_ID:11533938 12288805 JAK3 Janus kinase 3 gene DOID:9000933 Leukemoid Reaction ISO RGD:737593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukemoid reaction PMID:18397343|PMID:20400977|PMID:28492532 12288805 JAK3 Janus kinase 3 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2940 D RGD:9068941 20200609 RGD PMID:21434883|REF_RGD_ID:11533942 12288805 JAK3 Janus kinase 3 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:10824 D RGD:9068941 20200609 RGD PMID:18234077|REF_RGD_ID:11533944 12288805 JAK3 Janus kinase 3 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2940 D RGD:9068941 20200609 RGD PMID:18234077|PMID:21434883|PMID:25762693|REF_RGD_ID:11533938|REF_RGD_ID:11533942|REF_RGD_ID:11533944 12288805 JAK3 Janus kinase 3 gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:737593 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: LYMPHOMATOUS ALL PMID:10982185|PMID:16843266|PMID:18270328|PMID:20132407|PMID:20372971|PMID:21599579|PMID:21821710|PMID:24728327|PMID:25157968|PMID:25741868|PMID:28492532 12288805 JAK3 Janus kinase 3 gene DOID:9002669 Hypoxia ISO RGD:2940 D RGD:9068941 20211203 RGD protein:increased expression:lung PMID:14703438|REF_RGD_ID:150527843 12288805 JAK3 Janus kinase 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:2940 D RGD:9068941 20200609 RGD PMID:25012120|REF_RGD_ID:11533939 12288805 JAK3 Janus kinase 3 gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:2940 D RGD:9068941 20200609 RGD PMID:23514809|REF_RGD_ID:11533940 12288805 JAK3 Janus kinase 3 gene DOID:9003214 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative ISO RGD:737593 D RGD:7240710 20180130 OMIM 12288805 JAK3 Janus kinase 3 gene DOID:9003214 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative ISO RGD:737593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:11741532|PMID:11781709|PMID:14615376|PMID:16199547|PMID:16843266|PMID:17252020|PMID:17433830|PMID:17456055|PMID:17576681|PMID:17644747|PMID:18270328|PMID:18397343|PMID:18845095|PMID:19203666|PMID:19282076|PMID:20132407|PMID:20372971|PMID:20400977|PMID:20417861|PMID:21050946|PMID:21184155|PMID:21228398|PMID:21599579|PMID:21821710|PMID:21868263|PMID:22237106|PMID:22425895|PMID:23069490|PMID:23384681|PMID:23832011|PMID:24033266|PMID:24139496|PMID:24446122|PMID:24728327|PMID:25146434|PMID:25157968|PMID:25193870|PMID:25333069|PMID:25395141|PMID:25505553|PMID:25595890|PMID:25672756|PMID:25741868|PMID:25815310|PMID:26321643|PMID:26545580|PMID:26769277|PMID:26915675|PMID:27484032|PMID:27577878|PMID:27593409|PMID:28109013|PMID:28492532|PMID:28747913|PMID:28916186|PMID:29049190|PMID:29375547|PMID:30177960|PMID:30697212|PMID:30778343|PMID:31440277|PMID:31589898|PMID:32135276|PMID:32215810|PMID:32445296|PMID:32754152|PMID:33040328|PMID:33365035|PMID:7481768|PMID:7659163|PMID:9354668|PMID:9536098|PMID:9753072 12288805 JAK3 Janus kinase 3 gene DOID:9004610 Acute Lung Injury ISO RGD:10824 D RGD:9068941 20200609 RGD PMID:22359619|REF_RGD_ID:11531100 12288805 JAK3 Janus kinase 3 gene DOID:9005603 Muscle Hypotonia ISO RGD:737593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:25741868|PMID:28492532 12288805 JAK3 Janus kinase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2940 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:21575160|REF_RGD_ID:11533943 12288805 JAK3 Janus kinase 3 gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:737593 D RGD:9068941 20201218 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26541527|REF_RGD_ID:40902860 12288805 JAK3 Janus kinase 3 gene DOID:9007138 Cd4+ Lymphocyte Deficiency ISO RGD:737593 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.C1066R (c.3196T>C) (human) PMID:25205547|REF_RGD_ID:11531127 12288805 JAK3 Janus kinase 3 gene DOID:9007647 Trichiasis ISO RGD:737593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Trichiasis PMID:25741868|PMID:28492532 12288805 JAK3 Janus kinase 3 gene DOID:9008299 Mediastinal Neoplasms ISO RGD:737593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24837469 12288805 JAK3 Janus kinase 3 gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:737593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 12288805 JAK3 Janus kinase 3 gene DOID:9008386 Hydrops Fetalis ISO RGD:737593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal edema PMID:25741868|PMID:28492532 12288805 JAK3 Janus kinase 3 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:737593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12288837 PNKD PNKD metallo-beta-lactamase domain containing gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1346850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12288837 PNKD PNKD metallo-beta-lactamase domain containing gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1346850 D RGD:7240710 20180130 OMIM 12288837 PNKD PNKD metallo-beta-lactamase domain containing gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1346850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia 1 PMID:10612827|PMID:15262732|PMID:15496428|PMID:15824259|PMID:16199547|PMID:16216955|PMID:16632198|PMID:17576681|PMID:19124534|PMID:20301400|PMID:21487022|PMID:22967746|PMID:24033266|PMID:25107857|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28893297|PMID:8659518|PMID:9490305|PMID:9536098 12288837 PNKD PNKD metallo-beta-lactamase domain containing gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1346850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12288837 PNKD PNKD metallo-beta-lactamase domain containing gene DOID:4450 renal cell carcinoma ISO RGD:1346850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 12288837 PNKD PNKD metallo-beta-lactamase domain containing gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1346850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12288837 PNKD PNKD metallo-beta-lactamase domain containing gene DOID:543 dystonia ISO RGD:1346850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal dystonia PMID:15262732|PMID:15496428|PMID:15824259|PMID:16216955|PMID:20301400|PMID:28492532|PMID:8659518|PMID:9490305 12288837 PNKD PNKD metallo-beta-lactamase domain containing gene DOID:630 genetic disease ISO RGD:1346850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12288837 PNKD PNKD metallo-beta-lactamase domain containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12288851 C15H1orf210 chromosome 15 C1orf210 homolog gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12288851 C15H1orf210 chromosome 15 C1orf210 homolog gene DOID:630 genetic disease ISO RGD:1603568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288851 C15H1orf210 chromosome 15 C1orf210 homolog gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1305347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12288872 MATK megakaryocyte-associated tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:69108 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12288872 MATK megakaryocyte-associated tyrosine kinase gene DOID:13938 amenorrhea ISO RGD:69108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12288872 MATK megakaryocyte-associated tyrosine kinase gene DOID:630 genetic disease ISO RGD:69108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288901 CXHXorf38 chromosome X CXorf38 homolog gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12288901 CXHXorf38 chromosome X CXorf38 homolog gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1352581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 12288901 CXHXorf38 chromosome X CXorf38 homolog gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1352581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 12288901 CXHXorf38 chromosome X CXorf38 homolog gene DOID:12849 autistic disorder ISO RGD:1352581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12288901 CXHXorf38 chromosome X CXorf38 homolog gene DOID:630 genetic disease ISO RGD:1352581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288901 CXHXorf38 chromosome X CXorf38 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12288901 CXHXorf38 chromosome X CXorf38 homolog gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1352581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 12288914 BLOC1S2 biogenesis of lysosomal organelles complex 1 subunit 2 gene DOID:630 genetic disease ISO RGD:1315231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288914 BLOC1S2 biogenesis of lysosomal organelles complex 1 subunit 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12288914 BLOC1S2 biogenesis of lysosomal organelles complex 1 subunit 2 gene DOID:9007194 Sciatica ISO RGD:1306551 D RGD:9068941 20200609 RGD PMID:16176350|REF_RGD_ID:2302154 12288928 TXNDC5 thioredoxin domain containing 5 gene DOID:0080600 COVID-19 ISO RGD:1313292 D RGD:9068941 20200709 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 12288928 TXNDC5 thioredoxin domain containing 5 gene DOID:630 genetic disease ISO RGD:1313292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288928 TXNDC5 thioredoxin domain containing 5 gene DOID:7148 rheumatoid arthritis ISO RGD:1313292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326410 12288928 TXNDC5 thioredoxin domain containing 5 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 12288928 TXNDC5 thioredoxin domain containing 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12288928 TXNDC5 thioredoxin domain containing 5 gene DOID:9002457 Experimental Arthritis ISO RGD:1313292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326410 12288945 SRSF2 serine and arginine rich splicing factor 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1343626 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:23280334|REF_RGD_ID:11039052 12288945 SRSF2 serine and arginine rich splicing factor 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1553658 D RGD:9068941 20220825 MouseDO OMIM:614286 12288945 SRSF2 serine and arginine rich splicing factor 2 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1343626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:27993330 12288945 SRSF2 serine and arginine rich splicing factor 2 gene DOID:305 carcinoma ISO RGD:1343626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12288945 SRSF2 serine and arginine rich splicing factor 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1343626 D RGD:9068941 20210917 RGD protein:increased expression:lung epithelium,nucleus PMID:23071587|REF_RGD_ID:150429662 12288945 SRSF2 serine and arginine rich splicing factor 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1343626 D RGD:9068941 20210917 RGD protein:increased expression:lung epithelium,nucleus PMID:23071587|REF_RGD_ID:150429662 12288945 SRSF2 serine and arginine rich splicing factor 2 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1343626 D RGD:9068941 20210917 RGD PMID:23071587|REF_RGD_ID:150429662 12288945 SRSF2 serine and arginine rich splicing factor 2 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1343626 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney (human) PMID:21082031|REF_RGD_ID:11039407 12288945 SRSF2 serine and arginine rich splicing factor 2 gene DOID:5410 pulmonary neuroendocrine tumor ISO RGD:1343626 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (human) PMID:23518498|REF_RGD_ID:11039050 12288945 SRSF2 serine and arginine rich splicing factor 2 gene DOID:6000 congestive heart failure disease_progression ISO RGD:1343626 D RGD:9068941 20221027 RGD DNA:mutations: : PMID:33779075|REF_RGD_ID:155630627 12288945 SRSF2 serine and arginine rich splicing factor 2 gene DOID:630 genetic disease ISO RGD:1343626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12288945 SRSF2 serine and arginine rich splicing factor 2 gene DOID:678 progressive supranuclear palsy ISO RGD:1343626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25402454 12288945 SRSF2 serine and arginine rich splicing factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1553658 D RGD:9068941 20210917 RGD PMID:32372053|REF_RGD_ID:150429663 12288945 SRSF2 serine and arginine rich splicing factor 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1343626 D RGD:9068941 20210917 RGD PMID:29278882|REF_RGD_ID:150429692 12288945 SRSF2 serine and arginine rich splicing factor 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1343626 D RGD:9068941 20210917 RGD PMID:28082404|REF_RGD_ID:150429666 12288945 SRSF2 serine and arginine rich splicing factor 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1343626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12288945 SRSF2 serine and arginine rich splicing factor 2 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:1343626 D RGD:9068941 20210917 RGD associated with hepatocellular carcinoma PMID:29278882|REF_RGD_ID:150429692 12288945 SRSF2 serine and arginine rich splicing factor 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1343626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12288945 SRSF2 serine and arginine rich splicing factor 2 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1343626 D RGD:9068941 20200609 RGD mRNA:increased expression:head and neck (human) PMID:21764905|REF_RGD_ID:11039047 12288945 SRSF2 serine and arginine rich splicing factor 2 gene DOID:9119 acute myeloid leukemia severity ISO RGD:1343626 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:22431577|REF_RGD_ID:11039017 12288963 RNASEH2A ribonuclease H2 subunit A gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1316328 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:17846997|PMID:20131292|PMID:21177858|PMID:21454563|PMID:23592335|PMID:24033266|PMID:24183309|PMID:24300241|PMID:25274781|PMID:25604658|PMID:25741868|PMID:26182405|PMID:27943079|PMID:28492532|PMID:31130681 12288963 RNASEH2A ribonuclease H2 subunit A gene DOID:0050990 episodic ataxia type 2 ISO RGD:1316328 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12288963 RNASEH2A ribonuclease H2 subunit A gene DOID:0080598 Kleefstra syndrome 2 ISO RGD:1316328 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 2 PMID:21454563|PMID:24183309|PMID:25274781|PMID:25604658|PMID:25741868|PMID:27943079|PMID:28492532 12288963 RNASEH2A ribonuclease H2 subunit A gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1316328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12288963 RNASEH2A ribonuclease H2 subunit A gene DOID:0111254 glutaric acidemia I ISO RGD:1316328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12288963 RNASEH2A ribonuclease H2 subunit A gene DOID:3413 alpha-mannosidosis ISO RGD:1316328 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12288963 RNASEH2A ribonuclease H2 subunit A gene DOID:3910 lung adenocarcinoma ISO RGD:1316328 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34254728 12288963 RNASEH2A ribonuclease H2 subunit A gene DOID:630 genetic disease ISO RGD:1316328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24300241|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28600779|PMID:29239743|PMID:31130284 12288963 RNASEH2A ribonuclease H2 subunit A gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1316328 D RGD:7240710 20180130 OMIM 12288963 RNASEH2A ribonuclease H2 subunit A gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1316328 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:15870678|PMID:16199547|PMID:16845400|PMID:17576681|PMID:17846997|PMID:20131292|PMID:21177858|PMID:21454563|PMID:23592335|PMID:24033266|PMID:24183309|PMID:24300241|PMID:25274781|PMID:25500883|PMID:25604658|PMID:25741868|PMID:26182405|PMID:26467025|PMID:27943079|PMID:28492532|PMID:28600779|PMID:29239743|PMID:31130284|PMID:31130681|PMID:31529068|PMID:9536098 12289019 PELI2 pellino E3 ubiquitin protein ligase family member 2 gene DOID:630 genetic disease ISO RGD:1353013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289040 PVR PVR cell adhesion molecule gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:736513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12289040 PVR PVR cell adhesion molecule gene DOID:0080395 orofacial cleft 1 ISO RGD:736513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21637507 12289040 PVR PVR cell adhesion molecule gene DOID:4953 poliomyelitis ISO RGD:736513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28446605|PMID:3020560 12289040 PVR PVR cell adhesion molecule gene DOID:630 genetic disease ISO RGD:736513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289040 PVR PVR cell adhesion molecule gene DOID:9002304 Prostatic Neoplasms ISO RGD:736513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30614027 12289040 PVR PVR cell adhesion molecule gene DOID:9119 acute myeloid leukemia ISO RGD:736513 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29855615 12289057 EXOC6 exocyst complex component 6 gene DOID:630 genetic disease ISO RGD:733206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289090 COPA COPI coat complex subunit alpha gene DOID:0060178 familial hemiplegic migraine ISO RGD:1321477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 12289090 COPA COPI coat complex subunit alpha gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1321477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:28492532 12289090 COPA COPI coat complex subunit alpha gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1321477 D RGD:7240710 20180130 OMIM 12289090 COPA COPI coat complex subunit alpha gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1321477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:17576681|PMID:25741868|PMID:25894502|PMID:27577878|PMID:28492532|PMID:29137621|PMID:31905480|PMID:32040879|PMID:32778887|PMID:9536098 12289090 COPA COPI coat complex subunit alpha gene DOID:11162 respiratory failure ISO RGD:1321477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acute respiratory failure PMID:25741868|PMID:25894502|PMID:28191890|PMID:30804679|PMID:32778887 12289090 COPA COPI coat complex subunit alpha gene DOID:1540 parathyroid carcinoma ISO RGD:1321477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12289090 COPA COPI coat complex subunit alpha gene DOID:3082 interstitial lung disease ISO RGD:1321477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25894502 12289090 COPA COPI coat complex subunit alpha gene DOID:417 autoimmune disease ISO RGD:1321477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25894502 12289090 COPA COPI coat complex subunit alpha gene DOID:630 genetic disease ISO RGD:1321477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12289090 COPA COPI coat complex subunit alpha gene DOID:848 arthritis ISO RGD:1321477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25894502 12289090 COPA COPI coat complex subunit alpha gene DOID:850 lung disease ISO RGD:1321477 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chronic lung disease PMID:25741868 12289090 COPA COPI coat complex subunit alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12289126 USP33 ubiquitin specific peptidase 33 gene DOID:630 genetic disease ISO RGD:1317280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289158 PORCN porcupine O-acyltransferase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12289158 PORCN porcupine O-acyltransferase gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1603972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 12289158 PORCN porcupine O-acyltransferase gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1603972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12289158 PORCN porcupine O-acyltransferase gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1603972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12289158 PORCN porcupine O-acyltransferase gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1603972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12289158 PORCN porcupine O-acyltransferase gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1603972 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12289158 PORCN porcupine O-acyltransferase gene DOID:12849 autistic disorder ISO RGD:1603972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12289158 PORCN porcupine O-acyltransferase gene DOID:2120 focal dermal hypoplasia ISO RGD:1603972 D RGD:7240710 20180130 OMIM 12289158 PORCN porcupine O-acyltransferase gene DOID:2120 focal dermal hypoplasia ISO RGD:1603972 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Focal dermal hypoplasia PMID:17546030|PMID:17546031|PMID:18325042|PMID:19277062|PMID:19309688|PMID:19586929|PMID:19863546|PMID:21484999|PMID:22888000|PMID:25640089|PMID:25741868|PMID:28492532|PMID:30022487|PMID:32141364 12289158 PORCN porcupine O-acyltransferase gene DOID:630 genetic disease ISO RGD:1603972 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17546030|PMID:17546031|PMID:19277062|PMID:19309688|PMID:20854095|PMID:21484999|PMID:25640089|PMID:25741868|PMID:28492532 12289158 PORCN porcupine O-acyltransferase gene DOID:9008086 Developmental Disabilities ISO RGD:1603972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741874 12289184 H2AC25 H2A clustered histone 25 gene DOID:1540 parathyroid carcinoma ISO RGD:1320935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12289184 H2AC25 H2A clustered histone 25 gene DOID:630 genetic disease ISO RGD:1320935 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289184 H2AC25 H2A clustered histone 25 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12289189 CLVS2 clavesin 2 gene DOID:1826 epilepsy ISO RGD:1604529 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12289189 CLVS2 clavesin 2 gene DOID:630 genetic disease ISO RGD:1604529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289205 ZNF185 zinc finger protein 185 with LIM domain gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1352809 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12289205 ZNF185 zinc finger protein 185 with LIM domain gene DOID:0050476 Barth syndrome ISO RGD:1352809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12289205 ZNF185 zinc finger protein 185 with LIM domain gene DOID:0050800 creatine transporter deficiency ISO RGD:1352809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12289205 ZNF185 zinc finger protein 185 with LIM domain gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12289205 ZNF185 zinc finger protein 185 with LIM domain gene DOID:10588 adrenoleukodystrophy ISO RGD:1352809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12289205 ZNF185 zinc finger protein 185 with LIM domain gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1352809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12289205 ZNF185 zinc finger protein 185 with LIM domain gene DOID:12849 autistic disorder ISO RGD:1352809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12289205 ZNF185 zinc finger protein 185 with LIM domain gene DOID:13628 favism ISO RGD:1352809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12289205 ZNF185 zinc finger protein 185 with LIM domain gene DOID:2729 dyskeratosis congenita ISO RGD:1352809 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12289205 ZNF185 zinc finger protein 185 with LIM domain gene DOID:607 paraplegia ISO RGD:1352809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12289205 ZNF185 zinc finger protein 185 with LIM domain gene DOID:630 genetic disease ISO RGD:1352809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289246 MOSPD3 motile sperm domain containing 3 gene DOID:1682 congenital heart disease ISO RGD:1312723 D RGD:9068941 20200609 RGD PMID:15533722|REF_RGD_ID:1582660 12289246 MOSPD3 motile sperm domain containing 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12289246 MOSPD3 motile sperm domain containing 3 gene DOID:630 genetic disease ISO RGD:1312722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289259 DEPDC1B DEP domain containing 1B gene DOID:0080600 COVID-19 ISO RGD:1314052 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12289259 DEPDC1B DEP domain containing 1B gene DOID:630 genetic disease ISO RGD:1314052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289259 DEPDC1B DEP domain containing 1B gene DOID:684 hepatocellular carcinoma ISO RGD:1314052 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12289259 DEPDC1B DEP domain containing 1B gene DOID:9002649 Acrodysostosis 2, with or without Hormone Resistance ISO RGD:1314052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance PMID:21681106|PMID:24203977 12289259 DEPDC1B DEP domain containing 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12289273 MGST3 microsomal glutathione S-transferase 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1314953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12289273 MGST3 microsomal glutathione S-transferase 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1314953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 12289273 MGST3 microsomal glutathione S-transferase 3 gene DOID:630 genetic disease ISO RGD:1314953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289273 MGST3 microsomal glutathione S-transferase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12289283 FAM149B1 family with sequence similarity 149 member B1 gene DOID:0050777 Joubert syndrome ISO RGD:1351219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:30905400 12289283 FAM149B1 family with sequence similarity 149 member B1 gene DOID:630 genetic disease ISO RGD:1351219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289283 FAM149B1 family with sequence similarity 149 member B1 gene DOID:9009141 Joubert Syndrome 36 ISO RGD:1351219 D RGD:7240710 20200226 OMIM 12289283 FAM149B1 family with sequence similarity 149 member B1 gene DOID:9009141 Joubert Syndrome 36 ISO RGD:1351219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 36 PMID:30905400 12289316 RBM25 RNA binding motif protein 25 gene DOID:1059 intellectual disability ISO RGD:1318710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12289316 RBM25 RNA binding motif protein 25 gene DOID:630 genetic disease ISO RGD:1318710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289337 CCDC175 coiled-coil domain containing 175 gene DOID:630 genetic disease ISO RGD:1347710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289365 DIPK2B divergent protein kinase domain 2B gene DOID:0060041 autism spectrum disorder ISO RGD:1343794 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21264219|PMID:21283809 12289365 DIPK2B divergent protein kinase domain 2B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12289365 DIPK2B divergent protein kinase domain 2B gene DOID:0080006 bone development disease ISO RGD:1343794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 12289365 DIPK2B divergent protein kinase domain 2B gene DOID:12849 autistic disorder ISO RGD:1343794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12289365 DIPK2B divergent protein kinase domain 2B gene DOID:684 hepatocellular carcinoma ISO RGD:1343794 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12289365 DIPK2B divergent protein kinase domain 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12289365 DIPK2B divergent protein kinase domain 2B gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1343794 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21264219 12289365 DIPK2B divergent protein kinase domain 2B gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1343794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 12289387 IL22RA2 interleukin 22 receptor subunit alpha 2 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1322028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 12289387 IL22RA2 interleukin 22 receptor subunit alpha 2 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1322028 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12289387 IL22RA2 interleukin 22 receptor subunit alpha 2 gene DOID:0111955 immunodeficiency 27A ISO RGD:1322028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 12289387 IL22RA2 interleukin 22 receptor subunit alpha 2 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1322028 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 12289387 IL22RA2 interleukin 22 receptor subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1322028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289387 IL22RA2 interleukin 22 receptor subunit alpha 2 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1322028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:26642243|PMID:28492532|PMID:29572183|PMID:8960473|PMID:9806040 12289403 CLTA clathrin light chain A gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:733774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12289403 CLTA clathrin light chain A gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:733774 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12289403 CLTA clathrin light chain A gene DOID:0080600 COVID-19 ISO RGD:733774 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12289403 CLTA clathrin light chain A gene DOID:0080942 anauxetic dysplasia ISO RGD:733774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12289403 CLTA clathrin light chain A gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:733774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12289403 CLTA clathrin light chain A gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:733774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12289403 CLTA clathrin light chain A gene DOID:630 genetic disease ISO RGD:733774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289403 CLTA clathrin light chain A gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:733774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12289403 CLTA clathrin light chain A gene DOID:9562 primary ciliary dyskinesia ISO RGD:733774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12289403 CLTA clathrin light chain A gene DOID:9870 galactosemia ISO RGD:733774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12289419 ZNF367 zinc finger protein 367 gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1316151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 12289419 ZNF367 zinc finger protein 367 gene DOID:1059 intellectual disability ISO RGD:1316151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12289419 ZNF367 zinc finger protein 367 gene DOID:630 genetic disease ISO RGD:1316151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289419 ZNF367 zinc finger protein 367 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316151 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34351699 12289419 ZNF367 zinc finger protein 367 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316151 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34351699 12289429 LOC102153308 zinc finger protein OZF gene DOID:630 genetic disease ISO RGD:1351619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289490 SMIM6 small integral membrane protein 6 gene DOID:630 genetic disease ISO RGD:5134215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289497 CLNS1A chloride nucleotide-sensitive channel 1A gene DOID:1059 intellectual disability ISO RGD:732210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12289497 CLNS1A chloride nucleotide-sensitive channel 1A gene DOID:1909 melanoma ISO RGD:732210 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12289497 CLNS1A chloride nucleotide-sensitive channel 1A gene DOID:630 genetic disease ISO RGD:732210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289517 FRYL FRY like transcription coactivator gene DOID:630 genetic disease ISO RGD:1352555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289588 KDM3A lysine demethylase 3A gene DOID:10283 prostate cancer ISO RGD:1346048 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate (human) PMID:22120715|REF_RGD_ID:9586733 12289588 KDM3A lysine demethylase 3A gene DOID:10283 prostate cancer ISO RGD:1346048 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland (human) PMID:20127736|REF_RGD_ID:9587486 12289588 KDM3A lysine demethylase 3A gene DOID:219 colon cancer severity ISO RGD:1346048 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:19858293|REF_RGD_ID:9590225 12289588 KDM3A lysine demethylase 3A gene DOID:3369 Ewing sarcoma ISO RGD:1346048 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow (human) PMID:24362521|REF_RGD_ID:9590218 12289588 KDM3A lysine demethylase 3A gene DOID:4362 cervical cancer severity ISO RGD:1346048 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:23492365|REF_RGD_ID:9590219 12289588 KDM3A lysine demethylase 3A gene DOID:630 genetic disease ISO RGD:1346048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289588 KDM3A lysine demethylase 3A gene DOID:684 hepatocellular carcinoma ISO RGD:1346048 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:21607773|REF_RGD_ID:9590222 12289588 KDM3A lysine demethylase 3A gene DOID:9002669 Hypoxia ISO RGD:708351 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple (rat) PMID:18538129|REF_RGD_ID:9586363 12289588 KDM3A lysine demethylase 3A gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1346048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 12289588 KDM3A lysine demethylase 3A gene DOID:9261 nasopharynx carcinoma severity ISO RGD:1346048 D RGD:9068941 20200609 RGD protein:decreased expression:nasopharyngeal epithelium (human) PMID:21541331|REF_RGD_ID:9590228 12289588 KDM3A lysine demethylase 3A gene DOID:9970 obesity ISO RGD:737255 D RGD:9068941 20200609 RGD PMID:19875498|REF_RGD_ID:9590220 12289588 KDM3A lysine demethylase 3A gene DOID:9970 obesity ISO RGD:737255 D RGD:9068941 20220825 MouseDO OMIM:601665 12289618 CHID1 chitinase domain containing 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12289618 CHID1 chitinase domain containing 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1604307 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12289618 CHID1 chitinase domain containing 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1604307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12289618 CHID1 chitinase domain containing 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12289618 CHID1 chitinase domain containing 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12289618 CHID1 chitinase domain containing 1 gene DOID:630 genetic disease ISO RGD:1604307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289618 CHID1 chitinase domain containing 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1604307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12289639 MZT2B mitotic spindle organizing protein 2B gene DOID:0050453 lissencephaly ISO RGD:1605033 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:25558065 12289639 MZT2B mitotic spindle organizing protein 2B gene DOID:630 genetic disease ISO RGD:1605033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289646 PROS1 protein S gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1342781 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 12289646 PROS1 protein S gene DOID:0060903 thrombosis ISO RGD:1342781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10706858|PMID:11132655 12289646 PROS1 protein S gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1342781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:11127877|PMID:11858485|PMID:20880255|PMID:24014240|PMID:24055113|PMID:25637381|PMID:25741868|PMID:28492532|PMID:31064749 12289646 PROS1 protein S gene DOID:0111003 Joubert syndrome 8 ISO RGD:1342781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 8 PMID:28492532 12289646 PROS1 protein S gene DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency ISO RGD:1342781 D RGD:7240710 20180130 OMIM 12289646 PROS1 protein S gene DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency ISO RGD:1342781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal dominant PMID:10447256|PMID:10456456|PMID:10669162|PMID:10706858|PMID:10790208|PMID:10811787|PMID:10887114|PMID:11127877|PMID:11858485|PMID:12960605|PMID:15147381|PMID:15175796|PMID:15238143|PMID:1547381|PMID:15712227|PMID:15978566|PMID:16100035|PMID:16461766|PMID:16961607|PMID:16961608|PMID:17157360|PMID:17576681|PMID:18322254|PMID:18435454|PMID:18841302|PMID:18954896|PMID:19826897|PMID:20811787|PMID:20880255|PMID:21172841|PMID:21285903|PMID:2143091|PMID:21486865|PMID:21764424|PMID:21764702|PMID:21811774|PMID:22261441|PMID:22273984|PMID:22627591|PMID:23813890|PMID:24014240|PMID:24033266|PMID:24055113|PMID:24119292|PMID:24162787|PMID:24233386|PMID:24365770|PMID:2526663|PMID:25272994|PMID:25637381|PMID:25741868|PMID:26251307|PMID:26466767|PMID:26985940|PMID:27652279|PMID:27660039|PMID:27667277|PMID:27748013|PMID:27838551|PMID:28374852|PMID:28492532|PMID:28607330|PMID:29225857|PMID:29321366|PMID:29748776|PMID:29883906|PMID:30349894|PMID:30669159|PMID:31064749|PMID:34355501|PMID:7545463|PMID:7579448|PMID:7579449|PMID:7803790|PMID:8113388|PMID:8298131|PMID:8765219|PMID:8781426|PMID:8943854|PMID:9241758|PMID:9536098|PMID:9651142|PMID:9657428 12289646 PROS1 protein S gene DOID:0111902 thrombophilia due to activated protein C resistance ISO RGD:1342781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11703344 12289646 PROS1 protein S gene DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency ISO RGD:1342781 D RGD:7240710 20180130 OMIM 12289646 PROS1 protein S gene DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency ISO RGD:1342781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive PMID:10063989|PMID:10456456|PMID:10613646|PMID:10613647|PMID:10669162|PMID:10706858|PMID:10790208|PMID:10811787|PMID:10887114|PMID:11127877|PMID:11776305|PMID:11858485|PMID:12351389|PMID:12960605|PMID:15147381|PMID:15175796|PMID:15238143|PMID:1547381|PMID:15712227|PMID:15712777|PMID:15978566|PMID:16100035|PMID:16199547|PMID:16363235|PMID:16461766|PMID:16953283|PMID:16961607|PMID:16961608|PMID:17157360|PMID:17576681|PMID:18322254|PMID:18435454|PMID:18841302|PMID:18954896|PMID:19826897|PMID:20181378|PMID:20421270|PMID:20484936|PMID:20811787|PMID:20880255|PMID:21172841|PMID:21285903|PMID:2143091|PMID:21486865|PMID:21764424|PMID:21764702|PMID:21811774|PMID:22166512|PMID:22261441|PMID:22273984|PMID:2231208|PMID:22627591|PMID:22627709|PMID:22951146|PMID:23813890|PMID:24014240|PMID:24033266|PMID:24055113|PMID:24119292|PMID:24162787|PMID:24233386|PMID:24365770|PMID:2521801|PMID:2526663|PMID:25272994|PMID:25637381|PMID:25640679|PMID:25741868|PMID:26046366|PMID:26251307|PMID:26466767|PMID:26985940|PMID:27652279|PMID:27660039|PMID:27667277|PMID:27748013|PMID:27838551|PMID:28374852|PMID:28492532|PMID:28607330|PMID:29225857|PMID:29321366|PMID:29748776|PMID:29883906|PMID:30349894|PMID:30543986|PMID:30669159|PMID:31064749|PMID:31422373|PMID:32964666|PMID:34355501|PMID:34533296|PMID:7545463|PMID:7579448|PMID:7579449|PMID:7803790|PMID:7974339|PMID:8298131|PMID:8616098|PMID:8639833|PMID:8765219|PMID:8781426|PMID:8841302|PMID:8943854|PMID:9031442|PMID:9031443|PMID:9241758|PMID:9536098|PMID:9651142 12289646 PROS1 protein S gene DOID:11394 adult respiratory distress syndrome ISO RGD:1342781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12289646 PROS1 protein S gene DOID:1247 blood coagulation disease ISO RGD:1550610 D RGD:9068941 20200609 RGD PMID:19729839|REF_RGD_ID:11250417 12289646 PROS1 protein S gene DOID:178 vascular disease ISO RGD:1550610 D RGD:9068941 20200609 RGD PMID:19729839|REF_RGD_ID:11250417 12289646 PROS1 protein S gene DOID:2213 hemorrhagic disease ISO RGD:1342781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:20880255|PMID:25741868|PMID:28492532|PMID:31064749|PMID:8943854|PMID:9651142 12289646 PROS1 protein S gene DOID:2451 protein S deficiency ISO RGD:1342781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Protein S deficiency disease PMID:10447256|PMID:10706858|PMID:10790208|PMID:11127877|PMID:11858485|PMID:12351389|PMID:17576681|PMID:18322254|PMID:20880255|PMID:22166512|PMID:22261441|PMID:22951146|PMID:23813890|PMID:24014240|PMID:24055113|PMID:25272994|PMID:25637381|PMID:25741868|PMID:26466767|PMID:27652279|PMID:28492532|PMID:29321366|PMID:29748776|PMID:30543986|PMID:30669159|PMID:31064749|PMID:32581362|PMID:32964666|PMID:34355501|PMID:7579449|PMID:7803790|PMID:8943854|PMID:9241758|PMID:9536098 12289646 PROS1 protein S gene DOID:2451 protein S deficiency no_association ISO RGD:1342781 D RGD:9068941 20200609 RGD DNA:SNPs: : c.1016T>A, c.1138A>C (human) PMID:22261441|REF_RGD_ID:11250419 12289646 PROS1 protein S gene DOID:3526 cerebral infarction ISO RGD:1342781 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R355C (1063C>T) (human) PMID:21172841|REF_RGD_ID:11250416 12289646 PROS1 protein S gene DOID:3576 sagittal sinus thrombosis ISO RGD:1342781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18382986 12289646 PROS1 protein S gene DOID:630 genetic disease ISO RGD:1342781 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10077735|PMID:20880255|PMID:25741868|PMID:28492532 12289646 PROS1 protein S gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1342781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12289646 PROS1 protein S gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:620971 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver, plasma PMID:16995903|REF_RGD_ID:2300011 12289646 PROS1 protein S gene DOID:9002165 Diabetic Nephropathies ISO RGD:1342781 D RGD:9068941 20200609 RGD protein:increased expression:kidney, glomerulus PMID:29511111|REF_RGD_ID:13515131 12289646 PROS1 protein S gene DOID:9002165 Diabetic Nephropathies ISO RGD:620971 D RGD:9068941 20200609 RGD associated with diabetes mellitus, experimental;mRNA, protein:increased expression:kidney, glomerulus PMID:29511111|REF_RGD_ID:13515131 12289646 PROS1 protein S gene DOID:9002165 Diabetic Nephropathies severity ISO RGD:1550610 D RGD:9068941 20200609 RGD associated with diabetes mellitus, experimental PMID:29511111|REF_RGD_ID:13515131 12289646 PROS1 protein S gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:1342781 D RGD:9068941 20200609 RGD associated with diabetes mellitus, experimental PMID:29511111|REF_RGD_ID:13515131 12289646 PROS1 protein S gene DOID:9003121 Thromboembolism ISO RGD:1342781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thromboembolism PMID:25741868|PMID:31064749 12289646 PROS1 protein S gene DOID:9003505 Venous Thromboembolism ISO RGD:1342781 D RGD:9068941 20200609 RGD PMID:11434940|PMID:26466767|REF_RGD_ID:11099984|REF_RGD_ID:11251678 12289646 PROS1 protein S gene DOID:9003871 Venous Thrombosis ISO RGD:1342781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:12351389|PMID:20880255|PMID:22261441|PMID:25741868|PMID:28492532|PMID:31064749|PMID:32964666|PMID:7803790 12289669 FASTKD2 FAST kinase domains 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:1317335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12289669 FASTKD2 FAST kinase domains 2 gene DOID:3652 Leigh disease ISO RGD:1317335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:31944455 12289669 FASTKD2 FAST kinase domains 2 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1317335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:18771761|PMID:25326635|PMID:25497598|PMID:25741868|PMID:25842391|PMID:28492532 12289669 FASTKD2 FAST kinase domains 2 gene DOID:630 genetic disease ISO RGD:1317335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12289669 FASTKD2 FAST kinase domains 2 gene DOID:9002715 Combined Oxidative Phosphorylation Deficiency 44 ISO RGD:1317335 D RGD:7240710 20200520 OMIM 12289669 FASTKD2 FAST kinase domains 2 gene DOID:9002715 Combined Oxidative Phosphorylation Deficiency 44 ISO RGD:1317335 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 44 PMID:18771761|PMID:25741868|PMID:28492532|PMID:28499982|PMID:31944455 12289669 FASTKD2 FAST kinase domains 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12289690 EIF2D eukaryotic translation initiation factor 2D gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1322883 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12289690 EIF2D eukaryotic translation initiation factor 2D gene DOID:12849 autistic disorder ISO RGD:1322883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12289690 EIF2D eukaryotic translation initiation factor 2D gene DOID:1540 parathyroid carcinoma ISO RGD:1322883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12289690 EIF2D eukaryotic translation initiation factor 2D gene DOID:630 genetic disease ISO RGD:1322883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289690 EIF2D eukaryotic translation initiation factor 2D gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1322883 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12289690 EIF2D eukaryotic translation initiation factor 2D gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12289724 RO60 Ro60, Y RNA binding protein gene DOID:1540 parathyroid carcinoma ISO RGD:1312904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12289724 RO60 Ro60, Y RNA binding protein gene DOID:630 genetic disease ISO RGD:1312904 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289724 RO60 Ro60, Y RNA binding protein gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1312904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 12289724 RO60 Ro60, Y RNA binding protein gene DOID:9074 systemic lupus erythematosus ISO RGD:1624075 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12289724 RO60 Ro60, Y RNA binding protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12289737 PALMD palmdelphin gene DOID:630 genetic disease ISO RGD:1313763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289737 PALMD palmdelphin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12289748 CLMN calmin gene DOID:630 genetic disease ISO RGD:1315532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289775 CEP68 centrosomal protein 68 gene DOID:0060224 atrial fibrillation ISO RGD:1319252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12289775 CEP68 centrosomal protein 68 gene DOID:630 genetic disease ISO RGD:1319252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289795 CEP83 centrosomal protein 83 gene DOID:0111125 nephronophthisis 18 ISO RGD:1606008 D RGD:7240710 20180130 OMIM 12289795 CEP83 centrosomal protein 83 gene DOID:0111125 nephronophthisis 18 ISO RGD:1606008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 18 PMID:16199547|PMID:17576681|PMID:23530209|PMID:24882706|PMID:25741868|PMID:28492532|PMID:30655312|PMID:9536098 12289795 CEP83 centrosomal protein 83 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1606008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 12289795 CEP83 centrosomal protein 83 gene DOID:11372 megacolon ISO RGD:1606008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12289795 CEP83 centrosomal protein 83 gene DOID:630 genetic disease ISO RGD:1606008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12289830 CAPG capping actin protein, gelsolin like gene DOID:0080600 COVID-19 ISO RGD:1323330 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12289830 CAPG capping actin protein, gelsolin like gene DOID:3910 lung adenocarcinoma ISO RGD:1323330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 12289830 CAPG capping actin protein, gelsolin like gene DOID:4450 renal cell carcinoma ISO RGD:1323330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 12289830 CAPG capping actin protein, gelsolin like gene DOID:630 genetic disease ISO RGD:1323330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289830 CAPG capping actin protein, gelsolin like gene DOID:9000058 Keloid ISO RGD:1323330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12289830 CAPG capping actin protein, gelsolin like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12289830 CAPG capping actin protein, gelsolin like gene DOID:9119 acute myeloid leukemia ISO RGD:1323330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 12289854 RINL Ras and Rab interactor like gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1602985 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12289854 RINL Ras and Rab interactor like gene DOID:630 genetic disease ISO RGD:1602985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289854 RINL Ras and Rab interactor like gene DOID:9352 type 2 diabetes mellitus ISO RGD:1602985 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12289873 OR6A2 olfactory receptor family 6 subfamily A member 2 gene DOID:630 genetic disease ISO RGD:1605112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289877 LRRIQ4 leucine rich repeats and IQ motif containing 4 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:2293898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 12289877 LRRIQ4 leucine rich repeats and IQ motif containing 4 gene DOID:1062 Fanconi syndrome ISO RGD:2293898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 12289877 LRRIQ4 leucine rich repeats and IQ motif containing 4 gene DOID:630 genetic disease ISO RGD:2293898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289888 NR2F1 nuclear receptor subfamily 2 group F member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12289888 NR2F1 nuclear receptor subfamily 2 group F member 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732429 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12289888 NR2F1 nuclear receptor subfamily 2 group F member 1 gene DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome ISO RGD:732429 D RGD:7240710 20200122 OMIM 12289888 NR2F1 nuclear receptor subfamily 2 group F member 1 gene DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome ISO RGD:732429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome PMID:18414213|PMID:24462372|PMID:25326637|PMID:25741868|PMID:25741869|PMID:25741879|PMID:26138355|PMID:26350515|PMID:26986877|PMID:28492532|PMID:28963436|PMID:29410510|PMID:30755392|PMID:31393201|PMID:31729143|PMID:32275123|PMID:32407885|PMID:32712214 12289888 NR2F1 nuclear receptor subfamily 2 group F member 1 gene DOID:1826 epilepsy ISO RGD:732429 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure 12289888 NR2F1 nuclear receptor subfamily 2 group F member 1 gene DOID:5119 ovarian cyst ISO RGD:732429 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12289888 NR2F1 nuclear receptor subfamily 2 group F member 1 gene DOID:630 genetic disease ISO RGD:732429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26986877|PMID:28492532|PMID:32275123 12289888 NR2F1 nuclear receptor subfamily 2 group F member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12289888 NR2F1 nuclear receptor subfamily 2 group F member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732429 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12289888 NR2F1 nuclear receptor subfamily 2 group F member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:732429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12289888 NR2F1 nuclear receptor subfamily 2 group F member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732429 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11850205 12289898 TMPRSS4 transmembrane serine protease 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1312821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12289898 TMPRSS4 transmembrane serine protease 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1312821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12289898 TMPRSS4 transmembrane serine protease 4 gene DOID:0080600 COVID-19 ISO RGD:1312821 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:32404436 12289898 TMPRSS4 transmembrane serine protease 4 gene DOID:0080690 RASopathy ISO RGD:1312821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12289898 TMPRSS4 transmembrane serine protease 4 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1312821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12289898 TMPRSS4 transmembrane serine protease 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1312821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12289898 TMPRSS4 transmembrane serine protease 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:1312821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12289898 TMPRSS4 transmembrane serine protease 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:1312821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12289898 TMPRSS4 transmembrane serine protease 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:1312821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12289898 TMPRSS4 transmembrane serine protease 4 gene DOID:1059 intellectual disability ISO RGD:1312821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12289898 TMPRSS4 transmembrane serine protease 4 gene DOID:630 genetic disease ISO RGD:1312821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289898 TMPRSS4 transmembrane serine protease 4 gene DOID:9001488 Human Influenza ISO RGD:1312821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26889029 12289898 TMPRSS4 transmembrane serine protease 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1312821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12289898 TMPRSS4 transmembrane serine protease 4 gene DOID:9007661 Dwarfism ISO RGD:1312821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12289915 GPR153 G protein-coupled receptor 153 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1319513 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12289915 GPR153 G protein-coupled receptor 153 gene DOID:5419 schizophrenia ISO RGD:1319513 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12289915 GPR153 G protein-coupled receptor 153 gene DOID:630 genetic disease ISO RGD:1319513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12289915 GPR153 G protein-coupled receptor 153 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12289915 GPR153 G protein-coupled receptor 153 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1319513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 12289924 ACADM acyl-CoA dehydrogenase medium chain gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:735259 D RGD:7240710 20180130 OMIM 12289924 ACADM acyl-CoA dehydrogenase medium chain gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:735259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:10767181|PMID:11263545|PMID:11346377|PMID:11349232|PMID:11409868|PMID:11486912|PMID:11673361|PMID:1356169|PMID:1361190|PMID:1447668|PMID:15171998|PMID:15171999|PMID:15479234|PMID:1570195|PMID:15832312|PMID:15915086|PMID:1594327|PMID:1601002|PMID:16121256|PMID:16199547|PMID:16291504|PMID:16617240|PMID:1671131|PMID:16737882|PMID:16763904|PMID:1678810|PMID:1679031|PMID:1684086|PMID:16972171|PMID:17273963|PMID:1729890|PMID:1756601|PMID:17576681|PMID:18075239|PMID:18188679|PMID:18241067|PMID:18450854|PMID:18767270|PMID:18836889|PMID:1902818|PMID:19064330|PMID:19156839|PMID:19224950|PMID:19649258|PMID:19699128|PMID:1972503|PMID:19780764|PMID:20036593|PMID:20301597|PMID:20333879|PMID:20434380|PMID:20437613|PMID:2046713|PMID:20567907|PMID:20580581|PMID:21083904|PMID:21228398|PMID:21239873|PMID:21483992|PMID:21704015|PMID:21929648|PMID:22166308|PMID:2251268|PMID:22542437|PMID:22630369|PMID:22683754|PMID:22796001|PMID:22848008|PMID:22975760|PMID:22995991|PMID:23028790|PMID:23095120|PMID:23151387|PMID:23430840|PMID:23509891|PMID:23546811|PMID:23574375|PMID:23700290|PMID:23757202|PMID:23798014|PMID:23810226|PMID:23829193|PMID:23842438|PMID:2393404|PMID:2394825|PMID:24033266|PMID:24082139|PMID:24294134|PMID:24623196|PMID:24718418|PMID:24799540|PMID:24966162|PMID:24998633|PMID:25087612|PMID:25255367|PMID:25333063|PMID:25503862|PMID:25640679|PMID:25689098|PMID:25741868|PMID:25763512|PMID:25940036|PMID:26215884|PMID:26223887|PMID:26467025|PMID:26798524|PMID:26947917|PMID:26990548|PMID:27308838|PMID:27477829|PMID:27751224|PMID:27843123|PMID:27856190|PMID:27943070|PMID:27976856|PMID:28492532|PMID:28581210|PMID:29247206|PMID:29285339|PMID:29350094|PMID:29519241|PMID:30626930|PMID:30675864|PMID:30838026|PMID:31012112|PMID:31033143|PMID:31620161|PMID:31737040|PMID:31836396|PMID:32778825|PMID:32793418|PMID:33123633|PMID:33514801|PMID:33580884|PMID:33841490|PMID:34539730|PMID:34578803|PMID:3786030|PMID:6434827|PMID:7603790|PMID:7633427|PMID:7652482|PMID:7720752|PMID:7730333|PMID:7904584|PMID:7929823|PMID:8102510|PMID:8104486|PMID:8198141|PMID:8215568|PMID:8535441|PMID:8682492|PMID:9158144|PMID:9536098|PMID:9797589|PMID:9882619 12289924 ACADM acyl-CoA dehydrogenase medium chain gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:2012 D RGD:9068941 20200609 RGD PMID:23076603|REF_RGD_ID:10047124 12289924 ACADM acyl-CoA dehydrogenase medium chain gene DOID:630 genetic disease ISO RGD:735259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11263545|PMID:11346377|PMID:11349232|PMID:11409868|PMID:11486912|PMID:1361190|PMID:1447668|PMID:15479234|PMID:1570195|PMID:15832312|PMID:1601002|PMID:16291504|PMID:16617240|PMID:1671131|PMID:16737882|PMID:16763904|PMID:1678810|PMID:1679031|PMID:1684086|PMID:1756601|PMID:18188679|PMID:18241067|PMID:1902818|PMID:19224950|PMID:1972503|PMID:19780764|PMID:20036593|PMID:20301597|PMID:20333879|PMID:20434380|PMID:2046713|PMID:21228398|PMID:22166308|PMID:2251268|PMID:22630369|PMID:22848008|PMID:22975760|PMID:23028790|PMID:23509891|PMID:23574375|PMID:23842438|PMID:2393404|PMID:2394825|PMID:24033266|PMID:24082139|PMID:24623196|PMID:24718418|PMID:24799540|PMID:24966162|PMID:24998633|PMID:25087612|PMID:25255367|PMID:25333063|PMID:25741868|PMID:25763512|PMID:25940036|PMID:26215884|PMID:26223887|PMID:26467025|PMID:26947917|PMID:27308838|PMID:27477829|PMID:27976856|PMID:28492532|PMID:29247206|PMID:30626930|PMID:31012112|PMID:32778825|PMID:33580884|PMID:33841490|PMID:3786030|PMID:6434827|PMID:7652482|PMID:7720752|PMID:7730333|PMID:7904584|PMID:8104486|PMID:9158144|PMID:9797589 12289924 ACADM acyl-CoA dehydrogenase medium chain gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 12289924 ACADM acyl-CoA dehydrogenase medium chain gene DOID:9003370 Dyslipidemias ISO RGD:735259 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dyslipidemia PMID:11263545|PMID:11346377|PMID:11349232|PMID:11486912|PMID:1361190|PMID:1447668|PMID:1570195|PMID:15832312|PMID:1601002|PMID:16291504|PMID:16617240|PMID:1671131|PMID:16737882|PMID:16763904|PMID:1678810|PMID:1679031|PMID:1684086|PMID:1756601|PMID:18241067|PMID:1902818|PMID:19224950|PMID:1972503|PMID:19780764|PMID:20036593|PMID:20301597|PMID:20333879|PMID:20434380|PMID:2046713|PMID:21228398|PMID:2251268|PMID:22630369|PMID:22975760|PMID:23028790|PMID:23509891|PMID:23574375|PMID:23842438|PMID:2393404|PMID:2394825|PMID:24033266|PMID:24082139|PMID:24623196|PMID:24718418|PMID:24799540|PMID:24966162|PMID:24998633|PMID:25087612|PMID:25333063|PMID:25741868|PMID:25763512|PMID:25940036|PMID:26215884|PMID:26223887|PMID:26467025|PMID:26947917|PMID:27976856|PMID:28492532|PMID:3786030|PMID:6434827|PMID:7652482|PMID:7720752|PMID:7730333|PMID:7904584|PMID:8104486|PMID:9158144|PMID:9797589 12289924 ACADM acyl-CoA dehydrogenase medium chain gene DOID:9004657 Weight Gain ISO RGD:735259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12289924 ACADM acyl-CoA dehydrogenase medium chain gene DOID:9006616 Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies ISO RGD:735259 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 2 PMID:11673361|PMID:19780764|PMID:20434380|PMID:23028790|PMID:24966162|PMID:25741868|PMID:27308838|PMID:28492532 12289924 ACADM acyl-CoA dehydrogenase medium chain gene DOID:9007874 Liver Failure ISO RGD:735259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9090694 12289924 ACADM acyl-CoA dehydrogenase medium chain gene DOID:9970 obesity ISO RGD:735259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12289939 RLIM ring finger protein, LIM domain interacting gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1352466 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:25735484|PMID:25741868 12289939 RLIM ring finger protein, LIM domain interacting gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12289939 RLIM ring finger protein, LIM domain interacting gene DOID:0112042 Tonne-Kalscheuer syndrome ISO RGD:1352466 D RGD:7240710 20190315 OMIM 12289939 RLIM ring finger protein, LIM domain interacting gene DOID:0112042 Tonne-Kalscheuer syndrome ISO RGD:1352466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT HAND AND FOOT ANOMALIES, GENITAL ANOMALIES, OR CONGENITAL DIAPHRAGMATIC HERNIA PMID:25644381|PMID:25735484|PMID:25741868|PMID:29728705|PMID:29742418 12289939 RLIM ring finger protein, LIM domain interacting gene DOID:10283 prostate cancer ISO RGD:1352466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12289939 RLIM ring finger protein, LIM domain interacting gene DOID:12849 autistic disorder ISO RGD:1352466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12289939 RLIM ring finger protein, LIM domain interacting gene DOID:630 genetic disease ISO RGD:1352466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25644381|PMID:25735484|PMID:29728705|PMID:29742418|PMID:33255631 12289939 RLIM ring finger protein, LIM domain interacting gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 12289939 RLIM ring finger protein, LIM domain interacting gene DOID:9008086 Developmental Disabilities ISO RGD:1352466 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25735484|PMID:25741868 12289962 FAM178B family with sequence similarity 178 member B gene DOID:1059 intellectual disability ISO RGD:1605679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12289962 FAM178B family with sequence similarity 178 member B gene DOID:5419 schizophrenia ISO RGD:1605679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12289962 FAM178B family with sequence similarity 178 member B gene DOID:630 genetic disease ISO RGD:1605679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12290003 FCRL2 Fc receptor like 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1323109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12290003 FCRL2 Fc receptor like 2 gene DOID:630 genetic disease ISO RGD:1323109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12290003 FCRL2 Fc receptor like 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12290043 CD99L2 CD99 molecule like 2 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:735542 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 12290043 CD99L2 CD99 molecule like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12290043 CD99L2 CD99 molecule like 2 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:735542 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 12290043 CD99L2 CD99 molecule like 2 gene DOID:12849 autistic disorder ISO RGD:735542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12290043 CD99L2 CD99 molecule like 2 gene DOID:630 genetic disease ISO RGD:735542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12290043 CD99L2 CD99 molecule like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 12290062 SPEN spen family transcriptional repressor gene DOID:0060041 autism spectrum disorder ISO RGD:1350979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12290062 SPEN spen family transcriptional repressor gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1350979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12290062 SPEN spen family transcriptional repressor gene DOID:2661 myoepithelioma ISO RGD:1350979 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12290062 SPEN spen family transcriptional repressor gene DOID:3007 breast ductal carcinoma ISO RGD:1350979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12290062 SPEN spen family transcriptional repressor gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1350979 D RGD:9068941 20220128 RGD associated with Neoplasm Metastasis; DNA:mutations PMID:33363385|REF_RGD_ID:151347445 12290062 SPEN spen family transcriptional repressor gene DOID:630 genetic disease ISO RGD:1350979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28191890|PMID:33004838|PMID:33596411 12290062 SPEN spen family transcriptional repressor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12290062 SPEN spen family transcriptional repressor gene DOID:9006249 RADIO-TARTAGLIA SYNDROME ISO RGD:1350979 D RGD:7240710 20210623 OMIM 12290062 SPEN spen family transcriptional repressor gene DOID:9006249 RADIO-TARTAGLIA SYNDROME ISO RGD:1350979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Radio-Tartaglia syndrome PMID:25741868|PMID:33596411 12290062 SPEN spen family transcriptional repressor gene DOID:9008582 Developmental Disease ISO RGD:1350979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12290062 SPEN spen family transcriptional repressor gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:1350979 D RGD:9068941 20220128 RGD protein:increased expression:mucosa of nasopharynx (human) PMID:32641685|REF_RGD_ID:151347437 12290062 SPEN spen family transcriptional repressor gene DOID:936 brain disease ISO RGD:1350979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868|PMID:33596411 12290088 PTH2 parathyroid hormone 2 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1601727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12290088 PTH2 parathyroid hormone 2 gene DOID:630 genetic disease ISO RGD:1601727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12290172 TADA3 transcriptional adaptor 3 gene DOID:2843 long QT syndrome ISO RGD:1314884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12290172 TADA3 transcriptional adaptor 3 gene DOID:630 genetic disease ISO RGD:1314884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12290172 TADA3 transcriptional adaptor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12290172 TADA3 transcriptional adaptor 3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1314884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12290190 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:0050572 cone-rod dystrophy ISO RGD:1346782 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 12290190 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:0050795 cone dystrophy ISO RGD:1346782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy | ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY PMID:28041643|PMID:28492532|PMID:30718709 12290190 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:1346782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy 3 PMID:17576681|PMID:25741868|PMID:28492532|PMID:30718709|PMID:9536098 12290190 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:0081023 retinal cone dystrophy 4 ISO RGD:1346782 D RGD:7240710 20211013 OMIM 12290190 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:0081023 retinal cone dystrophy 4 ISO RGD:1346782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal cone dystrophy 4 PMID:17033974|PMID:24033266|PMID:25741868|PMID:26002053|PMID:26218913|PMID:26560832|PMID:28041643|PMID:28492532|PMID:30718709 12290190 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1346782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 12290190 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:2843 long QT syndrome ISO RGD:1346782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12290190 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:630 genetic disease ISO RGD:1346782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12290190 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:8501 fundus dystrophy ISO RGD:1346782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 12290190 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1346782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12290190 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:9008296 Eye Abnormalities ISO RGD:1346782 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:17033974|PMID:24033266|PMID:26560832|PMID:28041643|PMID:28492532 12290231 DCP1B decapping mRNA 1B gene DOID:2843 long QT syndrome ISO RGD:1348381 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12290231 DCP1B decapping mRNA 1B gene DOID:630 genetic disease ISO RGD:1348381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12290231 DCP1B decapping mRNA 1B gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1348381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12290254 ANK3 ankyrin 3 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:1318779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29109170 12290254 ANK3 ankyrin 3 gene DOID:0081202 autosomal recessive intellectual developmental disorder 37 ISO RGD:1318779 D RGD:7240710 20180130 OMIM 12290254 ANK3 ankyrin 3 gene DOID:0081202 autosomal recessive intellectual developmental disorder 37 ISO RGD:1318779 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability-hypotonia-spasticity-sleep disorder syndrome PMID:22865819|PMID:23390136|PMID:25741868|PMID:28492532|PMID:29302074 12290254 ANK3 ankyrin 3 gene DOID:0081227 autosomal recessive intellectual developmental disorder 66 ISO RGD:1318779 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal recessive 66 PMID:25741868 12290254 ANK3 ankyrin 3 gene DOID:0111444 progressive myoclonus epilepsy 4 ISO RGD:1318779 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome PMID:25741868|PMID:28492532 12290254 ANK3 ankyrin 3 gene DOID:1059 intellectual disability ISO RGD:1318779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12290254 ANK3 ankyrin 3 gene DOID:12849 autistic disorder ISO RGD:1318779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:22865819|PMID:25741868 12290254 ANK3 ankyrin 3 gene DOID:1824 status epilepticus ISO RGD:1318779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19306853 12290254 ANK3 ankyrin 3 gene DOID:1824 status epilepticus ISO RGD:620157 D RGD:9068941 20200609 RGD PMID:19306853|REF_RGD_ID:6767290 12290254 ANK3 ankyrin 3 gene DOID:3312 bipolar disorder ISO RGD:1318779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711365|PMID:21926974|PMID:31043756 12290254 ANK3 ankyrin 3 gene DOID:3312 bipolar disorder susceptibility ISO RGD:1318779 D RGD:9068941 20220901 RGD DNS:SNPs:multiple:(human) PMID:33729739|REF_RGD_ID:153344594 12290254 ANK3 ankyrin 3 gene DOID:3911 progeria ISO RGD:1318779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27217151 12290254 ANK3 ankyrin 3 gene DOID:5419 schizophrenia ISO RGD:1318779 D RGD:9068941 20220901 RGD mRNA,protein:decreased expression:superior temporal gyrus PMID:21893642|REF_RGD_ID:153344576 12290254 ANK3 ankyrin 3 gene DOID:5419 schizophrenia susceptibility ISO RGD:1318779 D RGD:9068941 20220901 RGD DNA:SNP: :rs9804190(human) PMID:21893642|REF_RGD_ID:153344576 12290254 ANK3 ankyrin 3 gene DOID:630 genetic disease ISO RGD:1318779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26350204|PMID:28492532 12290254 ANK3 ankyrin 3 gene DOID:684 hepatocellular carcinoma ISO RGD:734217 D RGD:9068941 20220825 RGD protein:decreased expression:liver PMID:26652480|REF_RGD_ID:153344559 12290254 ANK3 ankyrin 3 gene DOID:9000998 Brain Injuries ISO RGD:620157 D RGD:9068941 20200609 RGD PMID:20557305|REF_RGD_ID:6767288 12290254 ANK3 ankyrin 3 gene DOID:9001234 Prenatal Exposure Delayed Effects susceptibility ISO RGD:1318779 D RGD:9068941 20220826 RGD DNA:SNP: : rs9804190(human) PMID:27824361|REF_RGD_ID:153344561 12290254 ANK3 ankyrin 3 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:620157 D RGD:9068941 20200609 RGD mRNA:decreased expression:neuron PMID:10915577|REF_RGD_ID:6767305 12290254 ANK3 ankyrin 3 gene DOID:9005172 Lung Neoplasms ISO RGD:1318779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12290254 ANK3 ankyrin 3 gene DOID:9006534 Nervous System Malformations ISO RGD:1318779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12290254 ANK3 ankyrin 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1318779 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 12290254 ANK3 ankyrin 3 gene DOID:9008330 Serrated Polyposis ISO RGD:1318779 D RGD:9068941 20220825 RGD DNA:hypomethylation:exon,mucosa: PMID:35447336|REF_RGD_ID:153344547 12290319 VWCE von Willebrand factor C and EGF domains gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12290319 VWCE von Willebrand factor C and EGF domains gene DOID:1059 intellectual disability ISO RGD:1602968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12290319 VWCE von Willebrand factor C and EGF domains gene DOID:630 genetic disease ISO RGD:1602968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12290319 VWCE von Willebrand factor C and EGF domains gene DOID:9007661 Dwarfism ISO RGD:1602968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12290346 SLC18A3 solute carrier family 18 member A3 gene DOID:0110671 congenital myasthenic syndrome 6 ISO RGD:732691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial infantile myasthenia PMID:21948486|PMID:25741868|PMID:28492532 12290346 SLC18A3 solute carrier family 18 member A3 gene DOID:0110672 congenital myasthenic syndrome 21 ISO RGD:732691 D RGD:7240710 20190315 OMIM 12290346 SLC18A3 solute carrier family 18 member A3 gene DOID:0110672 congenital myasthenic syndrome 21 ISO RGD:732691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 21 PMID:25741868|PMID:27590285|PMID:28492532 12290346 SLC18A3 solute carrier family 18 member A3 gene DOID:10652 Alzheimer's disease ISO RGD:62364 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex PMID:21333939|REF_RGD_ID:5686673 12290346 SLC18A3 solute carrier family 18 member A3 gene DOID:10652 Alzheimer's disease ISO RGD:732691 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:frontal association cortex PMID:21743130|REF_RGD_ID:5686430 12290346 SLC18A3 solute carrier family 18 member A3 gene DOID:11372 megacolon ISO RGD:732691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12290346 SLC18A3 solute carrier family 18 member A3 gene DOID:12858 Huntington's disease ISO RGD:62364 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain, spinal cord PMID:16987871|REF_RGD_ID:5686805 12290346 SLC18A3 solute carrier family 18 member A3 gene DOID:12858 Huntington's disease ISO RGD:732691 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:striatum PMID:16987871|REF_RGD_ID:5686805 12290346 SLC18A3 solute carrier family 18 member A3 gene DOID:1824 status epilepticus ISO RGD:62364 D RGD:9068941 20200609 RGD PMID:18394802|REF_RGD_ID:5686685 12290346 SLC18A3 solute carrier family 18 member A3 gene DOID:2841 asthma ISO RGD:62072 D RGD:9068941 20200609 RGD PMID:17328924|REF_RGD_ID:5686690 12290346 SLC18A3 solute carrier family 18 member A3 gene DOID:3635 congenital myasthenic syndrome ISO RGD:732691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12290346 SLC18A3 solute carrier family 18 member A3 gene DOID:365 bladder disease ISO RGD:62072 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries;protein:decreased expression:axon terminus PMID:17229408|REF_RGD_ID:5686699 12290346 SLC18A3 solute carrier family 18 member A3 gene DOID:5419 schizophrenia ISO RGD:732691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12290346 SLC18A3 solute carrier family 18 member A3 gene DOID:630 genetic disease ISO RGD:732691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12290346 SLC18A3 solute carrier family 18 member A3 gene DOID:9000998 Brain Injuries ISO RGD:62072 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:18848922|REF_RGD_ID:5686682 12290346 SLC18A3 solute carrier family 18 member A3 gene DOID:9005930 Endotoxemia ISO RGD:62072 D RGD:9068941 20200609 RGD protein:decreased expression:parietal cortex PMID:17306796|REF_RGD_ID:5686693 12290351 CTDSPL2 CTD small phosphatase like 2 gene DOID:2717 Bloom syndrome ISO RGD:1605073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12290351 CTDSPL2 CTD small phosphatase like 2 gene DOID:630 genetic disease ISO RGD:1605073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12290351 CTDSPL2 CTD small phosphatase like 2 gene DOID:9256 colorectal cancer ISO RGD:1605073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12290380 FLAD1 flavin adenine dinucleotide synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12290380 FLAD1 flavin adenine dinucleotide synthetase 1 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1604288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:27259049|PMID:28492532|PMID:30982706 12290380 FLAD1 flavin adenine dinucleotide synthetase 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1604288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12290380 FLAD1 flavin adenine dinucleotide synthetase 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1604288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12290380 FLAD1 flavin adenine dinucleotide synthetase 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1604288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12290380 FLAD1 flavin adenine dinucleotide synthetase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1604288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12290380 FLAD1 flavin adenine dinucleotide synthetase 1 gene DOID:5812 MHC class II deficiency ISO RGD:1604288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12290380 FLAD1 flavin adenine dinucleotide synthetase 1 gene DOID:630 genetic disease ISO RGD:1604288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12290380 FLAD1 flavin adenine dinucleotide synthetase 1 gene DOID:9002543 Myopathy with Abnormal Lipid Metabolism ISO RGD:1604288 D RGD:7240710 20190315 OMIM 12290380 FLAD1 flavin adenine dinucleotide synthetase 1 gene DOID:9002543 Myopathy with Abnormal Lipid Metabolism ISO RGD:1604288 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy with abnormal lipid metabolism PMID:25741868|PMID:27259049|PMID:28492532 12290380 FLAD1 flavin adenine dinucleotide synthetase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12290397 TM4SF20 transmembrane 4 L six family member 20 gene DOID:630 genetic disease ISO RGD:1605628 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12290397 TM4SF20 transmembrane 4 L six family member 20 gene DOID:9004636 Specific Language Impairment 5 ISO RGD:1605628 D RGD:7240710 20180130 OMIM 12290397 TM4SF20 transmembrane 4 L six family member 20 gene DOID:9004636 Specific Language Impairment 5 ISO RGD:1605628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Specific language impairment 5 PMID:19557438|PMID:20848651|PMID:23806086|PMID:23810381|PMID:24088043|PMID:25741868 12290406 ZNF804A zinc finger protein 804A gene DOID:303 substance-related disorder ISO RGD:1349576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12290406 ZNF804A zinc finger protein 804A gene DOID:4450 renal cell carcinoma ISO RGD:1349576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 12290406 ZNF804A zinc finger protein 804A gene DOID:5419 schizophrenia ISO RGD:1349576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12290406 ZNF804A zinc finger protein 804A gene DOID:630 genetic disease ISO RGD:1349576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12290414 CTXN1 cortexin 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1353903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12290414 CTXN1 cortexin 1 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1353903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 12290414 CTXN1 cortexin 1 gene DOID:630 genetic disease ISO RGD:1353903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12290432 DUS3L dihydrouridine synthase 3 like gene DOID:630 genetic disease ISO RGD:1604330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12290461 OMD osteomodulin gene DOID:0050548 hereditary sensory neuropathy ISO RGD:736115 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 12290461 OMD osteomodulin gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:736115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 12290461 OMD osteomodulin gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:736115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 12290461 OMD osteomodulin gene DOID:630 genetic disease ISO RGD:736115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12290491 GDI1 GDP dissociation inhibitor 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:731728 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12290491 GDI1 GDP dissociation inhibitor 1 gene DOID:0050476 Barth syndrome ISO RGD:731728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12290491 GDI1 GDP dissociation inhibitor 1 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:10630 D RGD:9068941 20220825 MouseDO OMIM:300046 | OMIM:300047 | OMIM:300062 | OMIM:300114 | OMIM:300115 | OMIM:300143 | OMIM:300210 | OMIM:300271 | OMIM:300324 | OMIM:300355 | OMIM:300372 | OMIM:300387 | OMIM:300428 | OMIM:300433 | OMIM:300436 | OMIM:300454 | OMIM:300498 | OMIM:300504 | OMIM:300505 | OMIM:300518 | OMIM:300558 | OMIM:300577 | OMIM:300659 | OMIM:300716 | OMIM:300802 | OMIM:300803 | OMIM:300844 | OMIM:300848 | OMIM:300849 | OMIM:300850 | OMIM:300851 | OMIM:300852 | OMIM:300912 | OMIM:300919 | OMIM:300923 | OMIM:309530 | OMIM:309549 12290491 GDI1 GDP dissociation inhibitor 1 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:731728 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R423P (human) PMID:9668174|REF_RGD_ID:13208831 12290491 GDI1 GDP dissociation inhibitor 1 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:731728 D RGD:9068941 20200609 RGD DNA:nonsense mutation, missense mutation:cds:p.R70X, p.L92P (human) PMID:9620768|REF_RGD_ID:13208823 12290491 GDI1 GDP dissociation inhibitor 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:731728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12290491 GDI1 GDP dissociation inhibitor 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:731728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12290491 GDI1 GDP dissociation inhibitor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12290491 GDI1 GDP dissociation inhibitor 1 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:731728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 12290491 GDI1 GDP dissociation inhibitor 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:731728 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12290491 GDI1 GDP dissociation inhibitor 1 gene DOID:0112058 non-syndromic X-linked intellectual disability 41 ISO RGD:731728 D RGD:7240710 20180130 OMIM 12290491 GDI1 GDP dissociation inhibitor 1 gene DOID:0112058 non-syndromic X-linked intellectual disability 41 ISO RGD:731728 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 41 PMID:25559331|PMID:25741868|PMID:26975778|PMID:28492532|PMID:8826463|PMID:9106537|PMID:9620768|PMID:9668174 12290491 GDI1 GDP dissociation inhibitor 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:731728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12290491 GDI1 GDP dissociation inhibitor 1 gene DOID:1059 intellectual disability ISO RGD:731728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 12290491 GDI1 GDP dissociation inhibitor 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:731728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12290491 GDI1 GDP dissociation inhibitor 1 gene DOID:12849 autistic disorder ISO RGD:731728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12290491 GDI1 GDP dissociation inhibitor 1 gene DOID:13628 favism ISO RGD:731728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12290491 GDI1 GDP dissociation inhibitor 1 gene DOID:1561 cognitive disorder ISO RGD:10630 D RGD:9068941 20200609 RGD PMID:18829665|REF_RGD_ID:13208822 12290491 GDI1 GDP dissociation inhibitor 1 gene DOID:2468 psychotic disorder ISO RGD:731728 D RGD:9068941 20200609 RGD associated with Lupus Vasculitis, Central Nervous System PMID:20421581|REF_RGD_ID:13208821 12290491 GDI1 GDP dissociation inhibitor 1 gene DOID:2729 dyskeratosis congenita ISO RGD:731728 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12290491 GDI1 GDP dissociation inhibitor 1 gene DOID:607 paraplegia ISO RGD:731728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12290491 GDI1 GDP dissociation inhibitor 1 gene DOID:630 genetic disease ISO RGD:731728 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12290491 GDI1 GDP dissociation inhibitor 1 gene DOID:9002720 Splenomegaly ISO RGD:731728 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12290491 GDI1 GDP dissociation inhibitor 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:731728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8826463|PMID:9668174 12290491 GDI1 GDP dissociation inhibitor 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:731728 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.S396PfsX15 (human) PMID:22002931|REF_RGD_ID:13208827 12290491 GDI1 GDP dissociation inhibitor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12290504 PLXNB2 plexin B2 gene DOID:0060041 autism spectrum disorder ISO RGD:1313554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12290504 PLXNB2 plexin B2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1313554 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12290504 PLXNB2 plexin B2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1313554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12290504 PLXNB2 plexin B2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1313554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12290504 PLXNB2 plexin B2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1313554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12290504 PLXNB2 plexin B2 gene DOID:1059 intellectual disability ISO RGD:1313554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12290504 PLXNB2 plexin B2 gene DOID:630 genetic disease ISO RGD:1313554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12290544 TSGA10 testis specific 10 gene DOID:0111924 spermatogenic failure 26 ISO RGD:731470 D RGD:7240710 20190315 OMIM 12290544 TSGA10 testis specific 10 gene DOID:0111924 spermatogenic failure 26 ISO RGD:731470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 26 PMID:28905369 12290544 TSGA10 testis specific 10 gene DOID:630 genetic disease ISO RGD:731470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12290590 TRMT1 tRNA methyltransferase 1 gene DOID:0050858 Marshall-Smith syndrome ISO RGD:1601995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome PMID:20673863|PMID:23495138|PMID:25118028|PMID:25736188|PMID:26927468|PMID:27688808|PMID:28492532|PMID:29184170 12290590 TRMT1 tRNA methyltransferase 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1601995 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532|PMID:29184170 12290590 TRMT1 tRNA methyltransferase 1 gene DOID:0081229 autosomal recessive intellectual developmental disorder 68 ISO RGD:1601995 D RGD:7240710 20190315 OMIM 12290590 TRMT1 tRNA methyltransferase 1 gene DOID:0081229 autosomal recessive intellectual developmental disorder 68 ISO RGD:1601995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 68 PMID:21937992|PMID:25741868|PMID:26308914|PMID:30289604 12290590 TRMT1 tRNA methyltransferase 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1601995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12290590 TRMT1 tRNA methyltransferase 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1601995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12290590 TRMT1 tRNA methyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:1601995 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12290590 TRMT1 tRNA methyltransferase 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1601995 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12290590 TRMT1 tRNA methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1601995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12290611 UCHL3 ubiquitin C-terminal hydrolase L3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:731673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12290611 UCHL3 ubiquitin C-terminal hydrolase L3 gene DOID:2367 neuroaxonal dystrophy ISO RGD:736277 D RGD:9068941 20200609 RGD PMID:11555633|REF_RGD_ID:1302546 12290611 UCHL3 ubiquitin C-terminal hydrolase L3 gene DOID:630 genetic disease ISO RGD:731673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12290611 UCHL3 ubiquitin C-terminal hydrolase L3 gene DOID:9000123 Deglutition Disorders ISO RGD:731674 D RGD:9068941 20200609 RGD PMID:11555633|REF_RGD_ID:1302546 12290611 UCHL3 ubiquitin C-terminal hydrolase L3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 12290611 UCHL3 ubiquitin C-terminal hydrolase L3 gene DOID:9002955 Nerve Degeneration ISO RGD:731674 D RGD:9068941 20200609 RGD PMID:11555633|REF_RGD_ID:1302546 12290636 TOP2B DNA topoisomerase II beta gene DOID:0060041 autism spectrum disorder ISO RGD:1350637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder 12290636 TOP2B DNA topoisomerase II beta gene DOID:0060728 NGLY1-deficiency ISO RGD:1350637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of deglycosylation PMID:24651605|PMID:28492532 12290636 TOP2B DNA topoisomerase II beta gene DOID:0111800 syndromic microphthalmia 12 ISO RGD:1350637 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Microphthalmia, syndromic 12 PMID:24651605|PMID:28492532 12290636 TOP2B DNA topoisomerase II beta gene DOID:630 genetic disease ISO RGD:1350637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12290636 TOP2B DNA topoisomerase II beta gene DOID:8634 prostate carcinoma in situ ISO RGD:1350637 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601956 12290636 TOP2B DNA topoisomerase II beta gene DOID:8692 myeloid leukemia ISO RGD:1350637 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16932348 12290636 TOP2B DNA topoisomerase II beta gene DOID:9007742 B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations ISO RGD:1350637 D RGD:7240710 20211110 OMIM 12290636 TOP2B DNA topoisomerase II beta gene DOID:9007742 B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations ISO RGD:1350637 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations PMID:11152140|PMID:11476068|PMID:15521984|PMID:21204224|PMID:22002929|PMID:25741868|PMID:28492532|PMID:31409799|PMID:32128574|PMID:33459963 12290676 MEF2C myocyte enhancer factor 2C gene DOID:0060041 autism spectrum disorder ISO RGD:1349172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders PMID:20513142|PMID:25741868|PMID:26633542|PMID:28492532|PMID:29468350|PMID:29720203|PMID:30376817|PMID:30504930|PMID:30763456|PMID:33994118|PMID:34055696 12290676 MEF2C myocyte enhancer factor 2C gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1349172 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy 12290676 MEF2C myocyte enhancer factor 2C gene DOID:0070050 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ISO RGD:1349172 D RGD:7240710 20180130 OMIM 12290676 MEF2C myocyte enhancer factor 2C gene DOID:0070050 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ISO RGD:1349172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE PMID:16199547|PMID:17576681|PMID:18414213|PMID:19592390|PMID:19876902|PMID:20333642|PMID:20513142|PMID:20674574|PMID:22031302|PMID:22498567|PMID:23001426|PMID:23389741|PMID:24088041|PMID:25131622|PMID:25741868|PMID:25741869|PMID:26633542|PMID:26633545|PMID:27255693|PMID:27748065|PMID:28492532|PMID:28554332|PMID:28794905|PMID:29159939|PMID:29468350|PMID:29706646|PMID:29720203|PMID:29863696|PMID:30376817|PMID:30504930|PMID:30763456|PMID:31512412|PMID:32123317|PMID:33994118|PMID:34022131|PMID:34055696|PMID:7679508|PMID:9384584|PMID:9536098 12290676 MEF2C myocyte enhancer factor 2C gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349172 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12290676 MEF2C myocyte enhancer factor 2C gene DOID:1059 intellectual disability ISO RGD:1349172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability PMID:20513142|PMID:25741868|PMID:28492532|PMID:29720203|PMID:30376817|PMID:30763456 12290676 MEF2C myocyte enhancer factor 2C gene DOID:12849 autistic disorder ISO RGD:1349172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19131610 12290676 MEF2C myocyte enhancer factor 2C gene DOID:12930 dilated cardiomyopathy ISO RGD:1621607 D RGD:9068941 20200609 RGD PMID:16469744|REF_RGD_ID:1580546 12290676 MEF2C myocyte enhancer factor 2C gene DOID:1824 status epilepticus ISO RGD:1349172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18949272 12290676 MEF2C myocyte enhancer factor 2C gene DOID:1824 status epilepticus ISO RGD:1563119 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus PMID:18949272|REF_RGD_ID:5131610 12290676 MEF2C myocyte enhancer factor 2C gene DOID:1826 epilepsy ISO RGD:1349172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868 12290676 MEF2C myocyte enhancer factor 2C gene DOID:2303 stereotypic movement disorder ISO RGD:1349172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20412115 12290676 MEF2C myocyte enhancer factor 2C gene DOID:5844 myocardial infarction treatment ISO RGD:1563119 D RGD:9068941 20200609 RGD PMID:23948075|REF_RGD_ID:7327215 12290676 MEF2C myocyte enhancer factor 2C gene DOID:630 genetic disease ISO RGD:1349172 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:20513142|PMID:20674574|PMID:22498567|PMID:25741868|PMID:28492532|PMID:30376817|PMID:31512412|PMID:9384584 12290676 MEF2C myocyte enhancer factor 2C gene DOID:630 genetic disease ISO RGD:1349172 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:20513142|PMID:20674574|PMID:22498567|PMID:25741868|PMID:28492532|PMID:30376817|PMID:31512412|PMID:32123317|PMID:34022131|PMID:9384584 12290676 MEF2C myocyte enhancer factor 2C gene DOID:9001793 Generalized Epilepsy ISO RGD:1349172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:32581362 12290676 MEF2C myocyte enhancer factor 2C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:34022131 12290676 MEF2C myocyte enhancer factor 2C gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1621607 D RGD:9068941 20200609 RGD PMID:20041152|REF_RGD_ID:5131608 12290676 MEF2C myocyte enhancer factor 2C gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1563119 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:18413674|REF_RGD_ID:2312263 12290676 MEF2C myocyte enhancer factor 2C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349172 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12290676 MEF2C myocyte enhancer factor 2C gene DOID:9255 frontotemporal dementia ISO RGD:1349172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia 12290723 LGMN legumain gene DOID:0080054 achondrogenesis type IA ISO RGD:731860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12290723 LGMN legumain gene DOID:630 genetic disease ISO RGD:731860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12290723 LGMN legumain gene DOID:75 lymphatic system disease ISO RGD:1552555 D RGD:9068941 20220825 MouseDO 12290723 LGMN legumain gene DOID:9001499 Orthomyxoviridae Infections ISO RGD:731860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22916010 12290723 LGMN legumain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12290723 LGMN legumain gene DOID:9002189 High Myopia ISO RGD:731860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12290742 DENND6B DENN domain containing 6B gene DOID:0060041 autism spectrum disorder ISO RGD:1606364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12290742 DENND6B DENN domain containing 6B gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1606364 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12290742 DENND6B DENN domain containing 6B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1606364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12290742 DENND6B DENN domain containing 6B gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1606364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12290742 DENND6B DENN domain containing 6B gene DOID:10581 metachromatic leukodystrophy ISO RGD:1606364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12290742 DENND6B DENN domain containing 6B gene DOID:1059 intellectual disability ISO RGD:1606364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12290742 DENND6B DENN domain containing 6B gene DOID:630 genetic disease ISO RGD:1606364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12290773 TRPC7 transient receptor potential cation channel subfamily C member 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349355 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12290773 TRPC7 transient receptor potential cation channel subfamily C member 7 gene DOID:1324 lung cancer susceptibility ISO RGD:1349355 D RGD:9068941 20220616 RGD DNA:SNPs:: (rs11748198) (human) PMID:27617218|REF_RGD_ID:152995362 12290773 TRPC7 transient receptor potential cation channel subfamily C member 7 gene DOID:630 genetic disease ISO RGD:1349355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12290773 TRPC7 transient receptor potential cation channel subfamily C member 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12290773 TRPC7 transient receptor potential cation channel subfamily C member 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349355 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12290789 OR13C3 olfactory receptor family 13 subfamily C member 3 gene DOID:630 genetic disease ISO RGD:1354005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12290793 BEST4 bestrophin 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12290793 BEST4 bestrophin 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1344321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12290793 BEST4 bestrophin 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12290793 BEST4 bestrophin 4 gene DOID:630 genetic disease ISO RGD:1344321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12290805 FGD6 FYVE, RhoGEF and PH domain containing 6 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1319292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27089177 12290805 FGD6 FYVE, RhoGEF and PH domain containing 6 gene DOID:1790 malignant mesothelioma ISO RGD:1319292 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12290805 FGD6 FYVE, RhoGEF and PH domain containing 6 gene DOID:630 genetic disease ISO RGD:1319292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12290835 PLEKHA2 pleckstrin homology domain containing A2 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1352018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 12290835 PLEKHA2 pleckstrin homology domain containing A2 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1352018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 12290835 PLEKHA2 pleckstrin homology domain containing A2 gene DOID:607 paraplegia ISO RGD:1352018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12290835 PLEKHA2 pleckstrin homology domain containing A2 gene DOID:630 genetic disease ISO RGD:1352018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12290856 ZNG1A Zn regulated GTPase metalloprotein activator 1A gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1348830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12290856 ZNG1A Zn regulated GTPase metalloprotein activator 1A gene DOID:0080205 CAKUT ISO RGD:1552833 D RGD:9068941 20220825 MouseDO 12290856 ZNG1A Zn regulated GTPase metalloprotein activator 1A gene DOID:0080545 hyper IgE syndrome ISO RGD:1348830 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive PMID:33290277 12290856 ZNG1A Zn regulated GTPase metalloprotein activator 1A gene DOID:0080594 hyper IgE recurrent infection syndrome 2 ISO RGD:1348830 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE PMID:33290277 12290856 ZNG1A Zn regulated GTPase metalloprotein activator 1A gene DOID:0080600 COVID-19 ISO RGD:1348830 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12290856 ZNG1A Zn regulated GTPase metalloprotein activator 1A gene DOID:5419 schizophrenia ISO RGD:1348830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12290856 ZNG1A Zn regulated GTPase metalloprotein activator 1A gene DOID:630 genetic disease ISO RGD:1348830 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12290881 PPFIA3 PTPRF interacting protein alpha 3 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1312318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12290881 PPFIA3 PTPRF interacting protein alpha 3 gene DOID:0111076 progressive familial heart block type IB ISO RGD:1312318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 12290881 PPFIA3 PTPRF interacting protein alpha 3 gene DOID:630 genetic disease ISO RGD:1312318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0050860 colorectal adenoma ISO RGD:737596 D RGD:9068941 20200609 RGD PMID:21122381|REF_RGD_ID:13217408 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0050861 colorectal adenocarcinoma ISO RGD:737596 D RGD:9068941 20200609 RGD PMID:21122381|REF_RGD_ID:13217408 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0060578 Noonan syndrome 1 ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20683980|PMID:21440552|PMID:21784453|PMID:22389993|PMID:22465605|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0060581 Noonan syndrome 3 ISO RGD:737596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:17603482|PMID:22821648|PMID:25741868|PMID:28492532|PMID:30157809|PMID:30732632 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0060583 Noonan syndrome 5 ISO RGD:737596 D RGD:7240710 20180130 OMIM 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0060583 Noonan syndrome 5 ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Noonan syndrome 5 PMID:10064593|PMID:10497893|PMID:12077328|PMID:14701845|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603485|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:25862627|PMID:26266034|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26659599|PMID:26918529|PMID:27631234|PMID:27753652|PMID:28492532|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29232918|PMID:29271604|PMID:29493581|PMID:29522511|PMID:29948256|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:31589614|PMID:32269299|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:33673806|PMID:8601312|PMID:9536098 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737596 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:12077328|PMID:17603482|PMID:17603483|PMID:17603486|PMID:17603487|PMID:20052757|PMID:20679480|PMID:20683980|PMID:21784453|PMID:22465605|PMID:22781091|PMID:23737487|PMID:23885229|PMID:24033266|PMID:24803665|PMID:25741868|PMID:26266034|PMID:26580448|PMID:28492532|PMID:28750076|PMID:29493581|PMID:29522511 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080549 Noonan syndrome with multiple lentigines 2 ISO RGD:737596 D RGD:7240710 20180130 OMIM 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080549 Noonan syndrome with multiple lentigines 2 ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 2 PMID:10064593|PMID:10497893|PMID:12077328|PMID:14701845|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603486|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22389993|PMID:22558107|PMID:22821648|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24775816|PMID:24777450|PMID:25706034|PMID:25741868|PMID:26266034|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29232918|PMID:29271604|PMID:29493581|PMID:29522511|PMID:29948256|PMID:30105547|PMID:30138938|PMID:30157809|PMID:30384889|PMID:30732632|PMID:31030682|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312|PMID:9536098 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:737596 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10064593|PMID:10497893|PMID:11447113|PMID:12077328|PMID:12675918|PMID:16585161|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19357705|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22786616|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:25862627|PMID:25974318|PMID:26266034|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26918529|PMID:27040691|PMID:27763634|PMID:28069802|PMID:28166811|PMID:28492532|PMID:28777121|PMID:29084544|PMID:29232918|PMID:29493581|PMID:29907801|PMID:29948256|PMID:30157809|PMID:30204961|PMID:30417923|PMID:30732632|PMID:31030682|PMID:31145547|PMID:31560489|PMID:31589614|PMID:8601312|PMID:9536098 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:737596 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10064593|PMID:10497893|PMID:11447113|PMID:12077328|PMID:12675918|PMID:16585161|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19357705|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22190897|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22786616|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:25862627|PMID:25974318|PMID:26266034|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26918529|PMID:27040691|PMID:27763634|PMID:28069802|PMID:28166811|PMID:28492532|PMID:28777121|PMID:29084544|PMID:29232918|PMID:29493581|PMID:29907801|PMID:29948256|PMID:30157809|PMID:30204961|PMID:30417923|PMID:30732632|PMID:31030682|PMID:31145547|PMID:31292302|PMID:31560489|PMID:31589614|PMID:8601312|PMID:9536098 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:737596 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10064593|PMID:10497893|PMID:11447113|PMID:12077328|PMID:12675918|PMID:16585161|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19357705|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22190897|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22786616|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:25862627|PMID:25974318|PMID:26266034|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26918529|PMID:27040691|PMID:27763634|PMID:28069802|PMID:28166811|PMID:28492532|PMID:28777121|PMID:29084544|PMID:29232918|PMID:29493581|PMID:29907801|PMID:29948256|PMID:30157809|PMID:30204961|PMID:30417923|PMID:30732632|PMID:31030682|PMID:31145547|PMID:31292302|PMID:31560489|PMID:31589614|PMID:8601312|PMID:9536098 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:737596 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10064593|PMID:10497893|PMID:11447113|PMID:12077328|PMID:12675918|PMID:16585161|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19357705|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22190897|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22786616|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:25862627|PMID:25974318|PMID:26266034|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26659599|PMID:26918529|PMID:27040691|PMID:27631234|PMID:27763634|PMID:28069802|PMID:28166811|PMID:28492532|PMID:28750076|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29232918|PMID:29493581|PMID:29522511|PMID:29532030|PMID:29907801|PMID:29948256|PMID:30105547|PMID:30138938|PMID:30157809|PMID:30204961|PMID:30384889|PMID:30417923|PMID:30548201|PMID:30732632|PMID:30904638|PMID:31030682|PMID:31145547|PMID:31292302|PMID:31560489|PMID:31589614|PMID:32573669|PMID:33240318|PMID:8601312|PMID:9536098|PMID:9705288 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:737596 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10064593|PMID:10497893|PMID:11447113|PMID:12077328|PMID:12675918|PMID:16585161|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19357705|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22190897|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22786616|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:25862627|PMID:25974318|PMID:26266034|PMID:26467025|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26659599|PMID:26918529|PMID:27040691|PMID:27631234|PMID:27763634|PMID:28069802|PMID:28166811|PMID:28492532|PMID:28750076|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29232918|PMID:29493581|PMID:29522511|PMID:29532030|PMID:29907801|PMID:29948256|PMID:30105547|PMID:30138938|PMID:30157809|PMID:30204961|PMID:30384889|PMID:30417923|PMID:30548201|PMID:30732632|PMID:30904638|PMID:31030682|PMID:31145547|PMID:31292302|PMID:31560489|PMID:31589614|PMID:32573669|PMID:33240318|PMID:33318624|PMID:8601312|PMID:9536098|PMID:9705288 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10064593|PMID:10497893|PMID:11447113|PMID:12077328|PMID:12675918|PMID:12925535|PMID:14701845|PMID:16585161|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19357705|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22190897|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22786616|PMID:22810696|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24451042|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25640679|PMID:25706034|PMID:25741868|PMID:25862627|PMID:25974318|PMID:26266034|PMID:26467025|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26656175|PMID:26659599|PMID:26918529|PMID:27040691|PMID:27631234|PMID:27753652|PMID:27763634|PMID:28069802|PMID:28492532|PMID:28750076|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29232918|PMID:29271604|PMID:29493581|PMID:29522511|PMID:29532030|PMID:29907801|PMID:29948256|PMID:30105547|PMID:30138938|PMID:30157809|PMID:30204961|PMID:30359267|PMID:30384889|PMID:30417923|PMID:30548201|PMID:30732632|PMID:30904638|PMID:31030682|PMID:31145547|PMID:31292302|PMID:31560489|PMID:31589614|PMID:31983221|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33111339|PMID:33240318|PMID:33318624|PMID:33673806|PMID:8601312|PMID:9536098|PMID:9705288 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737596 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:17603482|PMID:17603483|PMID:17603487|PMID:17603489|PMID:18241070|PMID:18505544|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21784453|PMID:22465605|PMID:22781091|PMID:22826437|PMID:23321623|PMID:24033266|PMID:24803665|PMID:25741868|PMID:26266034|PMID:26580448|PMID:26918529|PMID:28492532|PMID:28750076|PMID:29493581|PMID:29522511|PMID:29948256 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:737596 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:25741868|PMID:28492532 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0110432 dilated cardiomyopathy 1NN ISO RGD:737596 D RGD:7240710 20180130 OMIM 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0110432 dilated cardiomyopathy 1NN ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1NN PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603485|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:21440552|PMID:21784453|PMID:22389993|PMID:22465605|PMID:23312806|PMID:23321623|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24775816|PMID:24777450|PMID:25706034|PMID:25741868|PMID:26467173|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:31589614|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:737596 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:22558107|PMID:24033266|PMID:25741868|PMID:28492532 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:10283 prostate cancer disease_progression ISO RGD:737596 D RGD:9068941 20200609 RGD PMID:15666389|REF_RGD_ID:13506811 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17603482|PMID:17603483 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:737596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24777450|PMID:25741868|PMID:28492532 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:737596 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24777450|PMID:25741868|PMID:28492532|PMID:29493581 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathic lentiginosis | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines PMID:10064593|PMID:11447113|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603489|PMID:18241070|PMID:18505544|PMID:19568997|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22389993|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:24803665|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:27753652|PMID:27763634|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:29948256|PMID:30105547|PMID:30138938|PMID:30384889|PMID:30732632|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:14780 KBG syndrome ISO RGD:737596 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:25741868|PMID:28492532 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:1790 malignant mesothelioma ISO RGD:737596 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:1909 melanoma ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:21440552|PMID:21784453|PMID:22389993|PMID:23312806|PMID:23321623|PMID:23737487|PMID:23877478|PMID:24033266|PMID:24775816|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:737596 D RGD:9068941 20200609 RGD PMID:15754006|REF_RGD_ID:13506897 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3070 high grade glioma ISO RGD:737596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioma 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:326 ischemia ISO RGD:11215 D RGD:9068941 20200609 RGD PMID:16172266|REF_RGD_ID:1580696 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3490 Noonan syndrome ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:10064593|PMID:11447113|PMID:11933072|PMID:12077328|PMID:12675918|PMID:14701845|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:19020799|PMID:19568997|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22190897|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:25862627|PMID:26266034|PMID:26467025|PMID:26580448|PMID:26619011|PMID:26659599|PMID:26918529|PMID:27040691|PMID:27631234|PMID:27753652|PMID:27763634|PMID:28492532|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29271604|PMID:29493581|PMID:29522511|PMID:29907801|PMID:29948256|PMID:30105547|PMID:30138938|PMID:30157809|PMID:30384889|PMID:30732632|PMID:31030682|PMID:31145547|PMID:31292302|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:33318624|PMID:33673806|PMID:8601312 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3717 gastric adenocarcinoma ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:21440552|PMID:21784453|PMID:22389993|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:737596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16862215 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:737596 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:21440552|PMID:21784453|PMID:22389993|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:32573669|PMID:33240318|PMID:8601312 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:21440552|PMID:21784453|PMID:22389993|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:4001 ovarian carcinoma ISO RGD:737596 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:737596 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:15014358|REF_RGD_ID:14392893 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:4905 pancreatic carcinoma ISO RGD:3531 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (rat) PMID:2278633|REF_RGD_ID:14392892 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:630 genetic disease ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603487|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20683980|PMID:21440552|PMID:21784453|PMID:22389993|PMID:22465605|PMID:22781091|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:24777450|PMID:25706034|PMID:25741868|PMID:26266034|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:8923 skin melanoma ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:21440552|PMID:21784453|PMID:22389993|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:737596 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:34540771 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9002211 Hyperalgesia ISO RGD:737596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18976650 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9002265 Kidney Neoplasms ISO RGD:737596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21813464 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:737596 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32512071 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9002335 Lymphangiectasis ISO RGD:11215 D RGD:9068941 20200609 RGD DNA:point mutation:exon :p.S259A (mouse) PMID:23391722|REF_RGD_ID:12910710 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9003936 Cardiomegaly ISO RGD:11215 D RGD:9068941 20200609 RGD DNA:point mutation:exon:p.D486N (mouse) PMID:22826437|REF_RGD_ID:12910709 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:737596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9005141 Ventricular Tachycardia ISO RGD:737596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9005172 Lung Neoplasms ISO RGD:737596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11884234 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9007096 Stroke ISO RGD:737596 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9007188 Liver Neoplasms ISO RGD:737596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19499222 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9008443 Colorectal Neoplasms ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:21440552|PMID:21784453|PMID:22389993|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312 12290914 RAF1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:737596 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12432273 12290941 KRT74 keratin 74 gene DOID:0110700 hypotrichosis 3 ISO RGD:1605882 D RGD:7240710 20180130 OMIM 12290941 KRT74 keratin 74 gene DOID:0110700 hypotrichosis 3 ISO RGD:1605882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotrichosis 3 PMID:21188418 12290941 KRT74 keratin 74 gene DOID:0111573 autosomal dominant woolly hair ISO RGD:1605882 D RGD:7240710 20180130 OMIM 12290941 KRT74 keratin 74 gene DOID:0111573 autosomal dominant woolly hair ISO RGD:1605882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant woolly hair PMID:20346438|PMID:21188418 12290941 KRT74 keratin 74 gene DOID:0111658 ectodermal dysplasia 4 ISO RGD:1605882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 4, hair/nail type PMID:20409997|PMID:24714551|PMID:25741868|PMID:28492532 12290941 KRT74 keratin 74 gene DOID:0111660 ectodermal dysplasia 7 ISO RGD:1605882 D RGD:7240710 20180130 OMIM 12290941 KRT74 keratin 74 gene DOID:0111660 ectodermal dysplasia 7 ISO RGD:1605882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 7, hair/nail type PMID:20409997|PMID:24714551|PMID:25741868|PMID:28492532 12290941 KRT74 keratin 74 gene DOID:4535 hypotrichosis ISO RGD:1605882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12290941 KRT74 keratin 74 gene DOID:630 genetic disease ISO RGD:1605882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12290954 SLC38A4 solute carrier family 38 member 4 gene DOID:630 genetic disease ISO RGD:1347009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12290974 H2AX H2A.X variant histone gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1346464 D RGD:9068941 20210820 RGD protein:increased expression:mucosa of oral region (human) PMID:29928356|REF_RGD_ID:150340604 12290974 H2AX H2A.X variant histone gene DOID:0060017 CD3epsilon deficiency ISO RGD:1346464 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12290974 H2AX H2A.X variant histone gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1346464 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12290974 H2AX H2A.X variant histone gene DOID:0080690 RASopathy ISO RGD:1346464 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12290974 H2AX H2A.X variant histone gene DOID:0081330 glycogen storage disease Ib ISO RGD:1346464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12290974 H2AX H2A.X variant histone gene DOID:0110651 long QT syndrome 10 ISO RGD:1346464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12290974 H2AX H2A.X variant histone gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1346464 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12290974 H2AX H2A.X variant histone gene DOID:0111971 immunodeficiency 18 ISO RGD:1346464 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12290974 H2AX H2A.X variant histone gene DOID:0111972 immunodeficiency 19 ISO RGD:1346464 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12290974 H2AX H2A.X variant histone gene DOID:0111973 immunodeficiency 17 ISO RGD:1346464 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12290974 H2AX H2A.X variant histone gene DOID:10763 hypertension treatment ISO RGD:1566119 D RGD:9068941 20200609 RGD PMID:24239235|REF_RGD_ID:8693672 12290974 H2AX H2A.X variant histone gene DOID:1824 status epilepticus ISO RGD:1566119 D RGD:9068941 20200609 RGD protein:increased phosphorylation:brain PMID:21613478|REF_RGD_ID:8693708 12290974 H2AX H2A.X variant histone gene DOID:224 transient cerebral ischemia treatment ISO RGD:1566119 D RGD:9068941 20200609 RGD PMID:20830300|REF_RGD_ID:8693742 12290974 H2AX H2A.X variant histone gene DOID:3068 glioblastoma ISO RGD:1346464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26651356 12290974 H2AX H2A.X variant histone gene DOID:5419 schizophrenia ISO RGD:1346464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12290974 H2AX H2A.X variant histone gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1566119 D RGD:9068941 20200609 RGD PMID:23792534|REF_RGD_ID:8693718 12290974 H2AX H2A.X variant histone gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1346464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12290974 H2AX H2A.X variant histone gene DOID:9004203 Chromosome Breakage ISO RGD:1346464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26231820 12290974 H2AX H2A.X variant histone gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1346464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 12290974 H2AX H2A.X variant histone gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:1558155 D RGD:9068941 20200609 RGD PMID:22384017|REF_RGD_ID:7240549 12290974 H2AX H2A.X variant histone gene DOID:9005779 Polyploidy ISO RGD:1346464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25123929 12290974 H2AX H2A.X variant histone gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1566119 D RGD:9068941 20200609 RGD PMID:23726287|REF_RGD_ID:8693706 12290974 H2AX H2A.X variant histone gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1346464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26651356 12290974 H2AX H2A.X variant histone gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:1566119 D RGD:9068941 20200609 RGD PMID:23265463|REF_RGD_ID:8693741 12290974 H2AX H2A.X variant histone gene DOID:9007661 Dwarfism ISO RGD:1346464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12290974 H2AX H2A.X variant histone gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:1566119 D RGD:9068941 20200609 RGD PMID:23108649|REF_RGD_ID:8693739 12290974 H2AX H2A.X variant histone gene DOID:9008939 Breast Neoplasms ISO RGD:1346464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433|PMID:21463514 12290974 H2AX H2A.X variant histone gene DOID:916 liver benign neoplasm treatment ISO RGD:1566119 D RGD:9068941 20200609 RGD PMID:23474136|REF_RGD_ID:8693737 12290974 H2AX H2A.X variant histone gene DOID:9655 oral mucosa leukoplakia disease_progression ISO RGD:1346464 D RGD:9068941 20210820 RGD protein:increased expression:mucosa of oral region (human) PMID:29928356|REF_RGD_ID:150340604 12290979 SHMT1 serine hydroxymethyltransferase 1 gene DOID:0050777 Joubert syndrome ISO RGD:1323770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12290979 SHMT1 serine hydroxymethyltransferase 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1323770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17119116 12290979 SHMT1 serine hydroxymethyltransferase 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1323770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12290979 SHMT1 serine hydroxymethyltransferase 1 gene DOID:0080600 COVID-19 ISO RGD:1323770 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12290979 SHMT1 serine hydroxymethyltransferase 1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1323770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12290979 SHMT1 serine hydroxymethyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1323770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12290979 SHMT1 serine hydroxymethyltransferase 1 gene DOID:1612 breast cancer resistance ISO RGD:1323770 D RGD:9068941 20200609 RGD DNA:SNP:CDS:rs1979276, T allele associated with 0.56x reduction in risk PMID:17896178|REF_RGD_ID:2300321 12290979 SHMT1 serine hydroxymethyltransferase 1 gene DOID:2394 ovarian cancer ISO RGD:1323770 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17031801|REF_RGD_ID:2300329 12290979 SHMT1 serine hydroxymethyltransferase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1323770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12290979 SHMT1 serine hydroxymethyltransferase 1 gene DOID:630 genetic disease ISO RGD:1323770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12290979 SHMT1 serine hydroxymethyltransferase 1 gene DOID:863 nervous system disease ISO RGD:1323770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 12290979 SHMT1 serine hydroxymethyltransferase 1 gene DOID:9006205 Animal Disease Models ISO RGD:1323770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12290979 SHMT1 serine hydroxymethyltransferase 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1323770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 12290979 SHMT1 serine hydroxymethyltransferase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1323770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17595805 12290979 SHMT1 serine hydroxymethyltransferase 1 gene DOID:9008939 Breast Neoplasms no_association ISO RGD:1323770 D RGD:9068941 20200609 RGD DNA:SNP:CDS:no association between SNP rs1979277, rs1979276 or rs3783 and susceptibility to breast cancer PMID:17311260|REF_RGD_ID:2300328 12290979 SHMT1 serine hydroxymethyltransferase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:25227144 12291000 NGDN neuroguidin gene DOID:0060439 lysinuric protein intolerance ISO RGD:1320980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12291000 NGDN neuroguidin gene DOID:630 genetic disease ISO RGD:1320980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291000 NGDN neuroguidin gene DOID:9000265 Specific Granule Deficiency ISO RGD:1320980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12291000 NGDN neuroguidin gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1320980 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12291018 ARHGAP23 Rho GTPase activating protein 23 gene DOID:0080600 COVID-19 ISO RGD:1320244 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12291018 ARHGAP23 Rho GTPase activating protein 23 gene DOID:11612 polycystic ovary syndrome ISO RGD:1320244 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12291018 ARHGAP23 Rho GTPase activating protein 23 gene DOID:630 genetic disease ISO RGD:1320244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291045 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:0050777 Joubert syndrome ISO RGD:734382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12291045 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:734382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:27891178|PMID:28492532|PMID:31209758 12291045 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:734382 D RGD:7240710 20180130 OMIM 12291045 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:734382 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:17576681|PMID:18414213|PMID:18479385|PMID:20301348|PMID:23086396|PMID:23086397|PMID:24029078|PMID:24319675|PMID:24463883|PMID:24591078|PMID:25042079|PMID:25326635|PMID:25326637|PMID:25339316|PMID:25482562|PMID:25590979|PMID:25741868|PMID:25985138|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26269628|PMID:26369628|PMID:26467025|PMID:26597493|PMID:26648591|PMID:26740507|PMID:26784557|PMID:26786403|PMID:26993267|PMID:27064559|PMID:27081515|PMID:27578169|PMID:27652284|PMID:27779742|PMID:28492532|PMID:28554332|PMID:28987752|PMID:29186148|PMID:29196578|PMID:29358611|PMID:29390993|PMID:30112700|PMID:30182418|PMID:30185235|PMID:30804880|PMID:30868116|PMID:30903923|PMID:31208268|PMID:31216405|PMID:31388363|PMID:31532594|PMID:31618474|PMID:32139178|PMID:32167590|PMID:34114611|PMID:9536098 12291045 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:734382 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12291045 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:734382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12291045 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:734382 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12291045 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:734382 D RGD:7240710 20180130 OMIM 12291045 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:734382 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 | ClinVar Annotator: match by term: Malignant migrating partial seizures of infancy PMID:16025100|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18479385|PMID:19264732|PMID:19597493|PMID:19668216|PMID:20301348|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23086396|PMID:23086397|PMID:23386033|PMID:24029078|PMID:24120652|PMID:24319675|PMID:24463883|PMID:24591078|PMID:25042079|PMID:25132448|PMID:25326635|PMID:25326637|PMID:25339316|PMID:25482562|PMID:25516202|PMID:25590979|PMID:25640679|PMID:25741868|PMID:25963545|PMID:25985138|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26269628|PMID:26369628|PMID:26467025|PMID:26597493|PMID:26648591|PMID:26740507|PMID:26784557|PMID:26786403|PMID:26820064|PMID:26993267|PMID:27029629|PMID:27064559|PMID:27081515|PMID:27159321|PMID:27578169|PMID:27652284|PMID:27779742|PMID:27891178|PMID:28125082|PMID:28366665|PMID:28488083|PMID:28492532|PMID:28554332|PMID:28973083|PMID:28987752|PMID:29037447|PMID:29100083|PMID:29186148|PMID:29196578|PMID:29196579|PMID:29314583|PMID:29358611|PMID:29390993|PMID:29422393|PMID:30112700|PMID:30182418|PMID:30185235|PMID:30804880|PMID:30868116|PMID:30903923|PMID:31208268|PMID:31388363|PMID:31532594|PMID:31560846|PMID:31618474|PMID:31872048|PMID:31875159|PMID:32086284|PMID:32167590|PMID:32613771|PMID:33650128|PMID:34114611|PMID:9536098 12291045 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:0081097 Rafiq syndrome ISO RGD:734382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12291045 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:10908 hydrocephalus ISO RGD:734382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:25741868|PMID:28492532 12291045 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:11832 visual epilepsy ISO RGD:734382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:17576681|PMID:18414213|PMID:25339316|PMID:25741868|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26467025|PMID:26740507|PMID:26786403|PMID:27029629|PMID:28488083|PMID:28492532|PMID:28554332|PMID:29100083|PMID:29358611|PMID:29422393|PMID:9536098 12291045 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:11832 visual epilepsy ISO RGD:734382 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure PMID:17576681|PMID:18414213|PMID:25339316|PMID:25741868|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26467025|PMID:26740507|PMID:26786403|PMID:27029629|PMID:28488083|PMID:28492532|PMID:28554332|PMID:29358611|PMID:29422393|PMID:9536098 12291045 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:734382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12291045 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:1826 epilepsy ISO RGD:734382 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Epilepsy syndrome | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:17576681|PMID:18414213|PMID:23086396|PMID:23086397|PMID:24319675|PMID:24591078|PMID:25326635|PMID:25326637|PMID:25339316|PMID:25482562|PMID:25741868|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26467025|PMID:26648591|PMID:26740507|PMID:26786403|PMID:27029629|PMID:27081515|PMID:27652284|PMID:28488083|PMID:28492532|PMID:28554332|PMID:28987752|PMID:29358611|PMID:29422393|PMID:30182418|PMID:9536098 12291045 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:1826 epilepsy ISO RGD:734382 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epilepsy syndrome | ClinVar Annotator: match by term: Seizure PMID:17576681|PMID:18414213|PMID:23086396|PMID:23086397|PMID:24319675|PMID:24591078|PMID:25326635|PMID:25326637|PMID:25339316|PMID:25482562|PMID:25741868|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26467025|PMID:26648591|PMID:26740507|PMID:26786403|PMID:27029629|PMID:27081515|PMID:27652284|PMID:28488083|PMID:28492532|PMID:28554332|PMID:28987752|PMID:29100083|PMID:29358611|PMID:29422393|PMID:30182418|PMID:9536098 12291045 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:1826 epilepsy ISO RGD:734382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Epilepsy syndrome | ClinVar Annotator: match by term: Seizure PMID:23086396|PMID:23086397|PMID:24319675|PMID:24591078|PMID:25326635|PMID:25326637|PMID:25482562|PMID:25741868|PMID:26122718|PMID:26140313|PMID:26648591|PMID:26740507|PMID:26993267|PMID:27029629|PMID:27081515|PMID:27652284|PMID:28492532|PMID:28987752|PMID:29100083|PMID:30182418 12291045 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:2234 focal epilepsy ISO RGD:734382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29186148|PMID:34114611 12291045 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:734382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 12291045 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:3331 frontal lobe epilepsy ISO RGD:734382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23086396 12291045 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:3652 Leigh disease ISO RGD:734382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12291045 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:5419 schizophrenia ISO RGD:734382 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12291045 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:630 genetic disease ISO RGD:734382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:23086397|PMID:24319675|PMID:25326635|PMID:25326637|PMID:25339316|PMID:25482562|PMID:25640679|PMID:25741868|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26436452|PMID:26467025|PMID:26740507|PMID:26786403|PMID:27081515|PMID:27652284|PMID:28488083|PMID:28492532|PMID:28554332|PMID:28973083|PMID:28987752|PMID:29186148|PMID:29358611|PMID:29422393|PMID:30182418|PMID:31388363|PMID:34114611|PMID:9536098 12291045 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:734382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:28492532 12291045 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734382 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12291045 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:9004991 Holoprosencephaly 12 ISO RGD:734382 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 12 with or without pancreatic agenesis PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12291045 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:734382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 12291045 KCNT1 potassium sodium-activated channel subfamily T member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:734382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23086397 12291104 VWA1 von Willebrand factor A domain containing 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12291104 VWA1 von Willebrand factor A domain containing 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603968 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12291104 VWA1 von Willebrand factor A domain containing 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1603968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12291104 VWA1 von Willebrand factor A domain containing 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1603968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12291104 VWA1 von Willebrand factor A domain containing 1 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1603968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12291104 VWA1 von Willebrand factor A domain containing 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12291104 VWA1 von Willebrand factor A domain containing 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:1603968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12291104 VWA1 von Willebrand factor A domain containing 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:1603968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12291104 VWA1 von Willebrand factor A domain containing 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12291104 VWA1 von Willebrand factor A domain containing 1 gene DOID:440 neuromuscular disease ISO RGD:1603968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:33459760 12291104 VWA1 von Willebrand factor A domain containing 1 gene DOID:630 genetic disease ISO RGD:1603968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291104 VWA1 von Willebrand factor A domain containing 1 gene DOID:9000655 Hereditary Motor Neuropathy with Myopathic Features ISO RGD:1603968 D RGD:7240710 20210414 OMIM 12291104 VWA1 von Willebrand factor A domain containing 1 gene DOID:9000655 Hereditary Motor Neuropathy with Myopathic Features ISO RGD:1603968 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary motor, with myopathic features PMID:25741868|PMID:33459760 12291104 VWA1 von Willebrand factor A domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12291104 VWA1 von Willebrand factor A domain containing 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1603968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12291104 VWA1 von Willebrand factor A domain containing 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12291112 EFNB1 ephrin B1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12291112 EFNB1 ephrin B1 gene DOID:0081044 frontonasal dysplasia ISO RGD:737327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15166289 12291112 EFNB1 ephrin B1 gene DOID:10534 stomach cancer disease_progression ISO RGD:737327 D RGD:9068941 20220811 RGD mRNA:increased expression:stomach (human) PMID:12136247|REF_RGD_ID:153323289 12291112 EFNB1 ephrin B1 gene DOID:12849 autistic disorder ISO RGD:737327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12291112 EFNB1 ephrin B1 gene DOID:14737 craniofrontonasal syndrome ISO RGD:737327 D RGD:7240710 20180130 OMIM 12291112 EFNB1 ephrin B1 gene DOID:14737 craniofrontonasal syndrome ISO RGD:737327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniofrontonasal syndrome PMID:1468459|PMID:15124102|PMID:15166289|PMID:15959873|PMID:16685650|PMID:18043713|PMID:18627045|PMID:20565770|PMID:23335590|PMID:25486017|PMID:25741868|PMID:26586496|PMID:27194971|PMID:28492532|PMID:31837199|PMID:6627724 12291112 EFNB1 ephrin B1 gene DOID:1934 dysostosis ISO RGD:737327 D RGD:9068941 20200609 RGD DNA:missense mutations, deletion PMID:15124102|REF_RGD_ID:1599802 12291112 EFNB1 ephrin B1 gene DOID:2340 craniosynostosis ISO RGD:737327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15166289 12291112 EFNB1 ephrin B1 gene DOID:630 genetic disease ISO RGD:737327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11780069|PMID:15166289|PMID:15959873|PMID:16685650|PMID:18627045|PMID:27884935|PMID:31862858 12291112 EFNB1 ephrin B1 gene DOID:9003133 Hypertelorism ISO RGD:737327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15166289 12291112 EFNB1 ephrin B1 gene DOID:9005372 Inflammation ISO RGD:737327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24098442 12291112 EFNB1 ephrin B1 gene DOID:9970 obesity ISO RGD:737327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24098442 12291120 SFMBT2 Scm like with four mbt domains 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1312812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12291120 SFMBT2 Scm like with four mbt domains 2 gene DOID:630 genetic disease ISO RGD:1312812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291156 MXI1 MAX interactor 1, dimerization protein gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:736546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 12291156 MXI1 MAX interactor 1, dimerization protein gene DOID:10283 prostate cancer ISO RGD:736546 D RGD:7240710 20180418 OMIM 12291156 MXI1 MAX interactor 1, dimerization protein gene DOID:10283 prostate cancer ISO RGD:736546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:7773287 12291156 MXI1 MAX interactor 1, dimerization protein gene DOID:2394 ovarian cancer ISO RGD:736546 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 12291156 MXI1 MAX interactor 1, dimerization protein gene DOID:3458 breast adenocarcinoma ISO RGD:3128 D RGD:9068941 20200609 RGD PMID:10849326|REF_RGD_ID:1298988 12291156 MXI1 MAX interactor 1, dimerization protein gene DOID:3512 neurofibrosarcoma ISO RGD:736546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurofibrosarcoma PMID:10470286 12291156 MXI1 MAX interactor 1, dimerization protein gene DOID:5041 esophageal cancer ISO RGD:3128 D RGD:9068941 20200609 RGD PMID:10849326|REF_RGD_ID:1298988 12291156 MXI1 MAX interactor 1, dimerization protein gene DOID:557 kidney disease ISO RGD:736546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23316056 12291156 MXI1 MAX interactor 1, dimerization protein gene DOID:630 genetic disease ISO RGD:736546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291156 MXI1 MAX interactor 1, dimerization protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:736546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12291175 FBXL8 F-box and leucine rich repeat protein 8 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1352579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12291175 FBXL8 F-box and leucine rich repeat protein 8 gene DOID:0110255 cataract 5 multiple types ISO RGD:1352579 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 12291175 FBXL8 F-box and leucine rich repeat protein 8 gene DOID:630 genetic disease ISO RGD:1352579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291185 WDR31 WD repeat domain 31 gene DOID:630 genetic disease ISO RGD:1319678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291213 RPS15A ribosomal protein S15a gene DOID:0111891 Diamond-Blackfan anemia 20 ISO RGD:735975 D RGD:7240710 20190315 OMIM 12291213 RPS15A ribosomal protein S15a gene DOID:0111891 Diamond-Blackfan anemia 20 ISO RGD:735975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 20 PMID:27909223 12291223 GLS2 glutaminase 2 gene DOID:630 genetic disease ISO RGD:1604019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291223 GLS2 glutaminase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12291270 SIAH1 siah E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1351073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291270 SIAH1 siah E3 ubiquitin protein ligase 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:620449 D RGD:9068941 20200609 RGD PMID:27256506|REF_RGD_ID:13792677 12291270 SIAH1 siah E3 ubiquitin protein ligase 1 gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:620449 D RGD:9068941 20200609 RGD PMID:30195603|REF_RGD_ID:13792615 12291270 SIAH1 siah E3 ubiquitin protein ligase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32430360 12291270 SIAH1 siah E3 ubiquitin protein ligase 1 gene DOID:9006459 BURATTI-HAREL SYNDROME ISO RGD:1351073 D RGD:7240710 20210811 OMIM 12291270 SIAH1 siah E3 ubiquitin protein ligase 1 gene DOID:9006459 BURATTI-HAREL SYNDROME ISO RGD:1351073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Buratti-Harel syndrome PMID:25741868|PMID:32430360 12291270 SIAH1 siah E3 ubiquitin protein ligase 1 gene DOID:9008342 Johnson Munson Syndrome ISO RGD:1351073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aphalangy of the hands and feet, hemivertebrae, and visceral malformations PMID:25741868 12291287 MRPS34 mitochondrial ribosomal protein S34 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1313761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 12291287 MRPS34 mitochondrial ribosomal protein S34 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1313761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12291287 MRPS34 mitochondrial ribosomal protein S34 gene DOID:0111492 combined oxidative phosphorylation deficiency 32 ISO RGD:1313761 D RGD:7240710 20190315 OMIM 12291287 MRPS34 mitochondrial ribosomal protein S34 gene DOID:0111492 combined oxidative phosphorylation deficiency 32 ISO RGD:1313761 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 32 PMID:25741868|PMID:28492532|PMID:2877793|PMID:28777931|PMID:35326425 12291287 MRPS34 mitochondrial ribosomal protein S34 gene DOID:1826 epilepsy ISO RGD:1313761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12291287 MRPS34 mitochondrial ribosomal protein S34 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1313761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12291287 MRPS34 mitochondrial ribosomal protein S34 gene DOID:3652 Leigh disease ISO RGD:1313761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:2877793|PMID:28777931 12291287 MRPS34 mitochondrial ribosomal protein S34 gene DOID:630 genetic disease ISO RGD:1313761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12291294 MIR20B microRNA mir-20b gene DOID:12849 autistic disorder ISO RGD:1604874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12291294 MIR20B microRNA mir-20b gene DOID:4989 pancreatitis ISO RGD:1604874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12291294 MIR20B microRNA mir-20b gene DOID:6000 congestive heart failure ISO RGD:1604874 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12291294 MIR20B microRNA mir-20b gene DOID:9000965 Neoplasm Metastasis ISO RGD:1604874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 12291294 MIR20B microRNA mir-20b gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1604874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12291294 MIR20B microRNA mir-20b gene DOID:9256 colorectal cancer ISO RGD:1604874 D RGD:9068941 20220721 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12291388 CLUL1 clusterin like 1 gene DOID:12849 autistic disorder ISO RGD:1315705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12291388 CLUL1 clusterin like 1 gene DOID:630 genetic disease ISO RGD:1315705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291388 CLUL1 clusterin like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12291388 CLUL1 clusterin like 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1315705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12291405 COQ10A coenzyme Q10A gene DOID:630 genetic disease ISO RGD:1602309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291405 COQ10A coenzyme Q10A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12291414 RBX1 ring-box 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1318229 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 12291414 RBX1 ring-box 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1318229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12291414 RBX1 ring-box 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1318229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 12291414 RBX1 ring-box 1 gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1318229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:28492532 12291414 RBX1 ring-box 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1318229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:15706485|PMID:24476420|PMID:28492532 12291427 YKT6 YKT6 v-SNARE homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12291427 YKT6 YKT6 v-SNARE homolog gene DOID:630 genetic disease ISO RGD:735770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291468 WBP1 WW domain binding protein 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1312705 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12291468 WBP1 WW domain binding protein 1 gene DOID:543 dystonia ISO RGD:1312705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12291468 WBP1 WW domain binding protein 1 gene DOID:630 genetic disease ISO RGD:1312705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291468 WBP1 WW domain binding protein 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1312705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12291478 DPP3 dipeptidyl peptidase 3 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:736150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 12291478 DPP3 dipeptidyl peptidase 3 gene DOID:1059 intellectual disability ISO RGD:736150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12291478 DPP3 dipeptidyl peptidase 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12291478 DPP3 dipeptidyl peptidase 3 gene DOID:2746 glycogen storage disease V ISO RGD:736150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12291478 DPP3 dipeptidyl peptidase 3 gene DOID:630 genetic disease ISO RGD:736150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291478 DPP3 dipeptidyl peptidase 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:736150 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12291478 DPP3 dipeptidyl peptidase 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:736150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12291506 POC5 POC5 centriolar protein gene DOID:0060249 scoliosis ISO RGD:1605874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25642776|PMID:25741868|PMID:28492532 12291506 POC5 POC5 centriolar protein gene DOID:10584 retinitis pigmentosa ISO RGD:1605874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:29272404 12291506 POC5 POC5 centriolar protein gene DOID:3323 Sandhoff disease ISO RGD:1605874 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 12291506 POC5 POC5 centriolar protein gene DOID:630 genetic disease ISO RGD:1605874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12291506 POC5 POC5 centriolar protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12291529 GJA3 gap junction protein alpha 3 gene DOID:0110231 cataract 1 multiple types ISO RGD:1349664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zonular Pulverulent Cataract 12291529 GJA3 gap junction protein alpha 3 gene DOID:0110253 cataract 14 multiple types ISO RGD:1349664 D RGD:7240710 20180130 OMIM 12291529 GJA3 gap junction protein alpha 3 gene DOID:0110253 cataract 14 multiple types ISO RGD:1349664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types | ClinVar Annotator: match by term: Zonular pulverulent cataract 3 PMID:10205266|PMID:10746562|PMID:15208569|PMID:15286166|PMID:15448617|PMID:16204255|PMID:16885921|PMID:19182255|PMID:20431721|PMID:21681855|PMID:21897748|PMID:22312188|PMID:22550389|PMID:22843197|PMID:22876138|PMID:23734083|PMID:25148791|PMID:25741868|PMID:26694549|PMID:27275416|PMID:27609163|PMID:28492532|PMID:28877251|PMID:29321356|PMID:29934635 12291529 GJA3 gap junction protein alpha 3 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1349664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:28492532 12291529 GJA3 gap junction protein alpha 3 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1349664 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:28492532 12291529 GJA3 gap junction protein alpha 3 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1349664 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:28492532 12291529 GJA3 gap junction protein alpha 3 gene DOID:14693 Clouston syndrome ISO RGD:1349664 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia PMID:28492532 12291529 GJA3 gap junction protein alpha 3 gene DOID:2121 ectodermal dysplasia ISO RGD:1349664 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 12291529 GJA3 gap junction protein alpha 3 gene DOID:630 genetic disease ISO RGD:1349664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12291529 GJA3 gap junction protein alpha 3 gene DOID:83 cataract ISO RGD:1349664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:15208569|PMID:16885921|PMID:19182255|PMID:22843197|PMID:25741868|PMID:26694549|PMID:27609163|PMID:28492532|PMID:29934635 12291529 GJA3 gap junction protein alpha 3 gene DOID:9005826 Congenital Cataracts, Facial Dysmorphism, and Neuropathy ISO RGD:1349664 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital Cataracts, Facial Dysmorphism, and Neuropathy PMID:25741868 12291529 GJA3 gap junction protein alpha 3 gene DOID:9008035 Cataract, Autosomal Dominant Nuclear ISO RGD:1349664 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.N188T (human) PMID:15448617|REF_RGD_ID:1578473 12291535 ZNF624 zinc finger protein 624 gene DOID:630 genetic disease ISO RGD:1342948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291548 TRPV2 transient receptor potential cation channel subfamily V member 2 gene DOID:630 genetic disease ISO RGD:1346359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291548 TRPV2 transient receptor potential cation channel subfamily V member 2 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1332143 D RGD:9068941 20200609 RGD PMID:25869297|REF_RGD_ID:9999444 12291548 TRPV2 transient receptor potential cation channel subfamily V member 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1346359 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:32751388 12291579 FERMT2 FERM domain containing kindlin 2 gene DOID:11054 urinary bladder cancer ISO RGD:1323441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21624607 12291579 FERMT2 FERM domain containing kindlin 2 gene DOID:13550 angle-closure glaucoma ISO RGD:1323441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27064256 12291579 FERMT2 FERM domain containing kindlin 2 gene DOID:630 genetic disease ISO RGD:1323441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291579 FERMT2 FERM domain containing kindlin 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1323441 D RGD:9068941 20200609 RGD PMID:22391155|REF_RGD_ID:11352307 12291598 SASH3 SAM and SH3 domain containing 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12291598 SASH3 SAM and SH3 domain containing 3 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1353862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:22796527|PMID:24357419|PMID:28492532 12291598 SASH3 SAM and SH3 domain containing 3 gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1353862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:22965764|PMID:28492532 12291598 SASH3 SAM and SH3 domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1353862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12291598 SASH3 SAM and SH3 domain containing 3 gene DOID:630 genetic disease ISO RGD:1353862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291598 SASH3 SAM and SH3 domain containing 3 gene DOID:9000339 Immunodeficiency 102 ISO RGD:1353862 D RGD:7240710 20220608 OMIM 12291598 SASH3 SAM and SH3 domain containing 3 gene DOID:9000339 Immunodeficiency 102 ISO RGD:1353862 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Immunodeficiency 102 PMID:33876203|PMID:35464398 12291598 SASH3 SAM and SH3 domain containing 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353862 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12291612 PCBD1 pterin-4 alpha-carbinolamine dehydratase 1 gene DOID:0081131 BH4-deficient hyperphenylalaninemia D ISO RGD:1604063 D RGD:7240710 20180130 OMIM 12291612 PCBD1 pterin-4 alpha-carbinolamine dehydratase 1 gene DOID:0081131 BH4-deficient hyperphenylalaninemia D ISO RGD:1604063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE DEFICIENCY | ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-deficient, D | ClinVar Annotator: match by term: Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency PMID:24133926|PMID:24204001|PMID:24848070|PMID:25333069|PMID:25741868|PMID:27246466|PMID:28492532|PMID:8352282|PMID:8618906|PMID:9585615|PMID:958615|PMID:9760199 12291612 PCBD1 pterin-4 alpha-carbinolamine dehydratase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1604063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12291612 PCBD1 pterin-4 alpha-carbinolamine dehydratase 1 gene DOID:630 genetic disease ISO RGD:1604063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12291612 PCBD1 pterin-4 alpha-carbinolamine dehydratase 1 gene DOID:9006205 Animal Disease Models ISO RGD:1604063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12291612 PCBD1 pterin-4 alpha-carbinolamine dehydratase 1 gene DOID:9281 phenylketonuria ISO RGD:1604063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia 12291620 NMBR neuromedin B receptor gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:731785 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12291620 NMBR neuromedin B receptor gene DOID:630 genetic disease ISO RGD:731785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291620 NMBR neuromedin B receptor gene DOID:9008939 Breast Neoplasms ISO RGD:731785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24349381 12291629 DDX50 DExD-box helicase 50 gene DOID:10283 prostate cancer ISO RGD:1322118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12291629 DDX50 DExD-box helicase 50 gene DOID:630 genetic disease ISO RGD:1322118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291659 ABCB10 ATP binding cassette subfamily B member 10 gene DOID:1540 parathyroid carcinoma ISO RGD:1322567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12291659 ABCB10 ATP binding cassette subfamily B member 10 gene DOID:630 genetic disease ISO RGD:1322567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291659 ABCB10 ATP binding cassette subfamily B member 10 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1322567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 12291659 ABCB10 ATP binding cassette subfamily B member 10 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1322567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12291659 ABCB10 ATP binding cassette subfamily B member 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12291691 RRAGA Ras related GTP binding A gene DOID:630 genetic disease ISO RGD:1349440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291699 MIR29B-2 microRNA mir-29b-2 gene DOID:12849 autistic disorder ISO RGD:1343298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12291699 MIR29B-2 microRNA mir-29b-2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1343298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12291704 TXNDC17 thioredoxin domain containing 17 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1318890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 12291704 TXNDC17 thioredoxin domain containing 17 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1318890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 12291704 TXNDC17 thioredoxin domain containing 17 gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:1318890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 12291704 TXNDC17 thioredoxin domain containing 17 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1318890 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12291704 TXNDC17 thioredoxin domain containing 17 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1318890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12291704 TXNDC17 thioredoxin domain containing 17 gene DOID:630 genetic disease ISO RGD:1318890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291718 BMS1 BMS1 ribosome biogenesis factor gene DOID:0080661 nonsyndromic aplasia cutis congenita ISO RGD:1345685 D RGD:7240710 20200422 OMIM 12291718 BMS1 BMS1 ribosome biogenesis factor gene DOID:2121 ectodermal dysplasia ISO RGD:1345685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aplasia cutis congenita PMID:23785305|PMID:25741868 12291718 BMS1 BMS1 ribosome biogenesis factor gene DOID:630 genetic disease ISO RGD:1345685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291752 TCEA1 transcription elongation factor A1 gene DOID:630 genetic disease ISO RGD:1320461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291773 PSME3IP1 proteasome activator subunit 3 interacting protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605044 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12291773 PSME3IP1 proteasome activator subunit 3 interacting protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605044 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12291773 PSME3IP1 proteasome activator subunit 3 interacting protein 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12291773 PSME3IP1 proteasome activator subunit 3 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1605044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291793 RASGRP1 RAS guanyl releasing protein 1 gene DOID:0111980 immunodeficiency 64 ISO RGD:69137 D RGD:7240710 20190904 OMIM 12291793 RASGRP1 RAS guanyl releasing protein 1 gene DOID:0111980 immunodeficiency 64 ISO RGD:69137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 64 PMID:25741868|PMID:27776107|PMID:28492532|PMID:28822832|PMID:29155103|PMID:29282224 12291793 RASGRP1 RAS guanyl releasing protein 1 gene DOID:2717 Bloom syndrome ISO RGD:69137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12291793 RASGRP1 RAS guanyl releasing protein 1 gene DOID:289 endometriosis ISO RGD:69137 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12291793 RASGRP1 RAS guanyl releasing protein 1 gene DOID:5419 schizophrenia ISO RGD:69137 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12291793 RASGRP1 RAS guanyl releasing protein 1 gene DOID:630 genetic disease ISO RGD:69137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12291793 RASGRP1 RAS guanyl releasing protein 1 gene DOID:7148 rheumatoid arthritis ISO RGD:69137 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 12291793 RASGRP1 RAS guanyl releasing protein 1 gene DOID:9007799 Legius Syndrome ISO RGD:69137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Legius syndrome PMID:21548021|PMID:22753041|PMID:28492532 12291793 RASGRP1 RAS guanyl releasing protein 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:69137 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 12291793 RASGRP1 RAS guanyl releasing protein 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:69138 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12291793 RASGRP1 RAS guanyl releasing protein 1 gene DOID:9119 acute myeloid leukemia ISO RGD:69137 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21441929 12291793 RASGRP1 RAS guanyl releasing protein 1 gene DOID:9256 colorectal cancer ISO RGD:69137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12291816 CA12 carbonic anhydrase 12 gene DOID:0050861 colorectal adenocarcinoma severity ISO RGD:1315327 D RGD:9068941 20220916 RGD PMID:10666387|REF_RGD_ID:155226866 12291816 CA12 carbonic anhydrase 12 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1315327 D RGD:9068941 20220916 RGD PMID:22172588|REF_RGD_ID:153352330 12291816 CA12 carbonic anhydrase 12 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:1315327 D RGD:9068941 20220916 RGD PMID:27688658|REF_RGD_ID:155226860 12291816 CA12 carbonic anhydrase 12 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1315327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12291816 CA12 carbonic anhydrase 12 gene DOID:0111371 isolated hyperchlorhidrosis ISO RGD:1315327 D RGD:7240710 20180130 OMIM 12291816 CA12 carbonic anhydrase 12 gene DOID:0111371 isolated hyperchlorhidrosis ISO RGD:1315327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated hyperchlorhidrosis PMID:21035102|PMID:21184099|PMID:25741868|PMID:26911677|PMID:28492532 12291816 CA12 carbonic anhydrase 12 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1315327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12291816 CA12 carbonic anhydrase 12 gene DOID:1324 lung cancer ISO RGD:1315327 D RGD:9068941 20220916 RGD protein:increased expression:serum; PMID:22439015|REF_RGD_ID:155226862 12291816 CA12 carbonic anhydrase 12 gene DOID:234 colon adenocarcinoma disease_progression ISO RGD:1315327 D RGD:9068941 20220915 RGD PMID:35847888|REF_RGD_ID:153352327 12291816 CA12 carbonic anhydrase 12 gene DOID:2717 Bloom syndrome ISO RGD:1315327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12291816 CA12 carbonic anhydrase 12 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1315327 D RGD:9068941 20220916 RGD PMID:26316888|REF_RGD_ID:155226859 12291816 CA12 carbonic anhydrase 12 gene DOID:3883 Lynch syndrome ISO RGD:1315327 D RGD:9068941 20220916 RGD protein:decreased expression:colorectum PMID:17855694|REF_RGD_ID:155226867 12291816 CA12 carbonic anhydrase 12 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1315034 D RGD:9068941 20220916 RGD PMID:23910904|REF_RGD_ID:155226863 12291816 CA12 carbonic anhydrase 12 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1315327 D RGD:9068941 20220916 RGD PMID:20521252|REF_RGD_ID:155226864 12291816 CA12 carbonic anhydrase 12 gene DOID:5015 fibrolamellar carcinoma ISO RGD:1315327 D RGD:9068941 20220915 RGD mRNA:increased expression:liver PMID:28304380|REF_RGD_ID:153352326 12291816 CA12 carbonic anhydrase 12 gene DOID:630 genetic disease ISO RGD:1315327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291816 CA12 carbonic anhydrase 12 gene DOID:684 hepatocellular carcinoma ISO RGD:1315327 D RGD:9068941 20220916 RGD mRNA:altered expression:liver PMID:29900055|REF_RGD_ID:155226869 12291816 CA12 carbonic anhydrase 12 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1315328 D RGD:9068941 20220915 RGD PMID:35362480|REF_RGD_ID:153352325 12291816 CA12 carbonic anhydrase 12 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1315327 D RGD:9068941 20220915 RGD PMID:31934040|PMID:35362480|REF_RGD_ID:153352325|REF_RGD_ID:153352328 12291816 CA12 carbonic anhydrase 12 gene DOID:9005172 Lung Neoplasms ISO RGD:1315327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12291816 CA12 carbonic anhydrase 12 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315327 D RGD:9068941 20220915 RGD protein:decreased expression:colorectal mucosa PMID:15849821|REF_RGD_ID:153352324 12291816 CA12 carbonic anhydrase 12 gene DOID:9009121 lung metastasis ameliorates ISO RGD:1315327 D RGD:9068941 20220916 RGD associated with breast cancer; PMID:29786141|REF_RGD_ID:155226861 12291816 CA12 carbonic anhydrase 12 gene DOID:9256 colorectal cancer ISO RGD:1315327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12291834 USP24 ubiquitin specific peptidase 24 gene DOID:630 genetic disease ISO RGD:1315618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291834 USP24 ubiquitin specific peptidase 24 gene DOID:9007661 Dwarfism ISO RGD:1315618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12291906 AKNAD1 AKNA domain containing 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1604964 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12291906 AKNAD1 AKNA domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1604964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12291906 AKNAD1 AKNA domain containing 1 gene DOID:630 genetic disease ISO RGD:1604964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291931 MAPK1IP1L mitogen-activated protein kinase 1 interacting protein 1 like gene DOID:630 genetic disease ISO RGD:1322925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291945 LOC480491 GTP:AMP phosphotransferase AK3, mitochondrial gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:737588 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12291945 LOC480491 GTP:AMP phosphotransferase AK3, mitochondrial gene DOID:1040 chronic lymphocytic leukemia ISO RGD:737588 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood mononuclear cell PMID:27078856|REF_RGD_ID:13842476 12291945 LOC480491 GTP:AMP phosphotransferase AK3, mitochondrial gene DOID:630 genetic disease ISO RGD:737588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291945 LOC480491 GTP:AMP phosphotransferase AK3, mitochondrial gene DOID:684 hepatocellular carcinoma ISO RGD:737588 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:17203974|REF_RGD_ID:13842477 12291950 PPBP pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) gene DOID:0080600 COVID-19 ISO RGD:736390 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD8+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 12291950 PPBP pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) gene DOID:10763 hypertension ISO RGD:736390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15513305|PMID:6192689 12291950 PPBP pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) gene DOID:1205 allergic disease ISO RGD:736390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23624239 12291950 PPBP pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) gene DOID:630 genetic disease ISO RGD:736390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291950 PPBP pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:736390 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12291950 PPBP pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) gene DOID:9005172 Lung Neoplasms ISO RGD:736390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12291950 PPBP pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) gene DOID:9744 type 1 diabetes mellitus ISO RGD:736390 D RGD:9068941 20200609 RGD PMID:14730686|REF_RGD_ID:1625598 12291957 LOC484309 leukocyte immunoglobulin-like receptor subfamily A member 6 gene DOID:630 genetic disease ISO RGD:1350932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291997 SLC8A2 solute carrier family 8 member A2 gene DOID:10652 Alzheimer's disease ISO RGD:731774 D RGD:9068941 20200609 RGD protein:altered expression:synaptosome: PMID:21382638|REF_RGD_ID:13628395 12291997 SLC8A2 solute carrier family 8 member A2 gene DOID:1824 status epilepticus ISO RGD:620194 D RGD:9068941 20200609 RGD PMID:15461673|REF_RGD_ID:2316980 12291997 SLC8A2 solute carrier family 8 member A2 gene DOID:2316 brain ischemia ISO RGD:620194 D RGD:9068941 20200609 RGD PMID:16107787|REF_RGD_ID:2316979 12291997 SLC8A2 solute carrier family 8 member A2 gene DOID:630 genetic disease ISO RGD:731774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12291997 SLC8A2 solute carrier family 8 member A2 gene DOID:9004009 Reperfusion Injury ISO RGD:620194 D RGD:9068941 20200609 RGD PMID:18037393|REF_RGD_ID:2316975 12292015 CYP2S1 cytochrome P450 family 2 subfamily S member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1314487 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12292015 CYP2S1 cytochrome P450 family 2 subfamily S member 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1314487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12292015 CYP2S1 cytochrome P450 family 2 subfamily S member 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1314487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12292015 CYP2S1 cytochrome P450 family 2 subfamily S member 1 gene DOID:2340 craniosynostosis ISO RGD:1314487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12292015 CYP2S1 cytochrome P450 family 2 subfamily S member 1 gene DOID:630 genetic disease ISO RGD:1314487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292015 CYP2S1 cytochrome P450 family 2 subfamily S member 1 gene DOID:8893 psoriasis ISO RGD:1314487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12711469 12292015 CYP2S1 cytochrome P450 family 2 subfamily S member 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1314487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12292015 CYP2S1 cytochrome P450 family 2 subfamily S member 1 gene DOID:9269 maple syrup urine disease ISO RGD:1314487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12292028 HIRA histone cell cycle regulator gene DOID:0060041 autism spectrum disorder ISO RGD:1346310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12292028 HIRA histone cell cycle regulator gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1346310 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12292028 HIRA histone cell cycle regulator gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1346310 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12292028 HIRA histone cell cycle regulator gene DOID:0111996 immunodeficiency 51 ISO RGD:1346310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12292028 HIRA histone cell cycle regulator gene DOID:10283 prostate cancer ISO RGD:1346310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12292028 HIRA histone cell cycle regulator gene DOID:1059 intellectual disability ISO RGD:1346310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12292028 HIRA histone cell cycle regulator gene DOID:11198 DiGeorge syndrome ISO RGD:1346310 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12292028 HIRA histone cell cycle regulator gene DOID:11372 megacolon ISO RGD:1346310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12292028 HIRA histone cell cycle regulator gene DOID:12583 velocardiofacial syndrome ISO RGD:1346310 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12292028 HIRA histone cell cycle regulator gene DOID:12849 autistic disorder ISO RGD:1346310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12292028 HIRA histone cell cycle regulator gene DOID:1826 epilepsy ISO RGD:1346310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12292028 HIRA histone cell cycle regulator gene DOID:5419 schizophrenia ISO RGD:1346310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12292028 HIRA histone cell cycle regulator gene DOID:612 primary immunodeficiency disease ISO RGD:1346310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12292028 HIRA histone cell cycle regulator gene DOID:630 genetic disease ISO RGD:1346310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12292028 HIRA histone cell cycle regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12292028 HIRA histone cell cycle regulator gene DOID:9007661 Dwarfism ISO RGD:1346310 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12292028 HIRA histone cell cycle regulator gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1346310 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12292063 SLC2A13 solute carrier family 2 member 13 gene DOID:303 substance-related disorder ISO RGD:731999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12292063 SLC2A13 solute carrier family 2 member 13 gene DOID:630 genetic disease ISO RGD:731999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292077 TFG trafficking from ER to golgi regulator gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1320255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:17576681|PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25098539|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:28166811|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30157421|PMID:9536098 12292077 TFG trafficking from ER to golgi regulator gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1320255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:17576681|PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25098539|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:28166811|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30157421|PMID:30221345|PMID:9536098 12292077 TFG trafficking from ER to golgi regulator gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1320255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:17576681|PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25098539|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:27601211|PMID:28124177|PMID:28166811|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30157421|PMID:30221345|PMID:30467354|PMID:9536098 12292077 TFG trafficking from ER to golgi regulator gene DOID:0110809 hereditary spastic paraplegia 57 ISO RGD:1320255 D RGD:7240710 20180130 OMIM 12292077 TFG trafficking from ER to golgi regulator gene DOID:0110809 hereditary spastic paraplegia 57 ISO RGD:1320255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 57 PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30157421|PMID:30221345 12292077 TFG trafficking from ER to golgi regulator gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1320255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:28492532 12292077 TFG trafficking from ER to golgi regulator gene DOID:630 genetic disease ISO RGD:1320255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23479643|PMID:25741868|PMID:27492651|PMID:28492532|PMID:29971521|PMID:30157421|PMID:30221345|PMID:9536098 12292077 TFG trafficking from ER to golgi regulator gene DOID:9001905 Hereditary Motor and Sensory Neuropathy, Okinawa Type ISO RGD:1320255 D RGD:7240710 20180130 OMIM 12292077 TFG trafficking from ER to golgi regulator gene DOID:9001905 Hereditary Motor and Sensory Neuropathy, Okinawa Type ISO RGD:1320255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:17576681|PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25098539|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:27601211|PMID:28124177|PMID:28166811|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30157421|PMID:30221345|PMID:30467354|PMID:9536098 12292092 KCNE4 potassium voltage-gated channel subfamily E regulatory subunit 4 gene DOID:630 genetic disease ISO RGD:1346142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292092 KCNE4 potassium voltage-gated channel subfamily E regulatory subunit 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12292099 ZNF500 zinc finger protein 500 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1314930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12292099 ZNF500 zinc finger protein 500 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1314930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 12292099 ZNF500 zinc finger protein 500 gene DOID:1826 epilepsy ISO RGD:1314930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12292099 ZNF500 zinc finger protein 500 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1314930 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12292099 ZNF500 zinc finger protein 500 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1314930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12292099 ZNF500 zinc finger protein 500 gene DOID:630 genetic disease ISO RGD:1314930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292122 WDHD1 WD repeat and HMG-box DNA binding protein 1 gene DOID:4947 cholangiocarcinoma ameliorates ISO RGD:1320961 D RGD:9068941 20230216 RGD PMID:30314946|REF_RGD_ID:156420141 12292122 WDHD1 WD repeat and HMG-box DNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1320961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292153 MIDEAS mitotic deacetylase associated SANT domain protein gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1314547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 12292153 MIDEAS mitotic deacetylase associated SANT domain protein gene DOID:1059 intellectual disability ISO RGD:1314547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12292153 MIDEAS mitotic deacetylase associated SANT domain protein gene DOID:630 genetic disease ISO RGD:1314547 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292179 RCAN1 regulator of calcineurin 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:735348 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12292179 RCAN1 regulator of calcineurin 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:735348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12292179 RCAN1 regulator of calcineurin 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:735348 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12292179 RCAN1 regulator of calcineurin 1 gene DOID:0110648 long QT syndrome 6 ISO RGD:735348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 PMID:21626672|PMID:28492532 12292179 RCAN1 regulator of calcineurin 1 gene DOID:10652 Alzheimer's disease ISO RGD:735348 D RGD:9068941 20200609 RGD PMID:11483593|REF_RGD_ID:1580889 12292179 RCAN1 regulator of calcineurin 1 gene DOID:12858 Huntington's disease ISO RGD:735348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270310 12292179 RCAN1 regulator of calcineurin 1 gene DOID:14250 Down syndrome ISO RGD:735348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15906378 12292179 RCAN1 regulator of calcineurin 1 gene DOID:1588 thrombocytopenia ISO RGD:735348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 12292179 RCAN1 regulator of calcineurin 1 gene DOID:1682 congenital heart disease ISO RGD:735348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15906378 12292179 RCAN1 regulator of calcineurin 1 gene DOID:630 genetic disease ISO RGD:735348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292179 RCAN1 regulator of calcineurin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12292179 RCAN1 regulator of calcineurin 1 gene DOID:7148 rheumatoid arthritis ISO RGD:735348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 12292179 RCAN1 regulator of calcineurin 1 gene DOID:9003936 Cardiomegaly ISO RGD:631338 D RGD:9068941 20200609 RGD PMID:12124198|REF_RGD_ID:625605 12292179 RCAN1 regulator of calcineurin 1 gene DOID:9003936 Cardiomegaly ISO RGD:731330 D RGD:9068941 20200609 RGD PMID:12515860|REF_RGD_ID:734902 12292179 RCAN1 regulator of calcineurin 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15906378 12292191 PLCXD1 phosphatidylinositol specific phospholipase C X domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1349595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12292200 MPC1 mitochondrial pyruvate carrier 1 gene DOID:0080363 mitochondrial pyruvate carrier deficiency ISO RGD:1352706 D RGD:7240710 20180130 OMIM 12292200 MPC1 mitochondrial pyruvate carrier 1 gene DOID:0080363 mitochondrial pyruvate carrier deficiency ISO RGD:1352706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial pyruvate carrier deficiency PMID:12649063|PMID:22628558|PMID:25741868 12292200 MPC1 mitochondrial pyruvate carrier 1 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1352706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 12292200 MPC1 mitochondrial pyruvate carrier 1 gene DOID:303 substance-related disorder ISO RGD:1352706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12292200 MPC1 mitochondrial pyruvate carrier 1 gene DOID:630 genetic disease ISO RGD:1352706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12292209 TMEM100 transmembrane protein 100 gene DOID:630 genetic disease ISO RGD:1602475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292235 LYL1 LYL1 basic helix-loop-helix family member gene DOID:0050858 Marshall-Smith syndrome ISO RGD:1343769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome PMID:20673863|PMID:23495138|PMID:25118028|PMID:25736188|PMID:26927468|PMID:27688808|PMID:28492532|PMID:29184170 12292235 LYL1 LYL1 basic helix-loop-helix family member gene DOID:0050908 myelodysplastic syndrome ISO RGD:1343769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16094422 12292235 LYL1 LYL1 basic helix-loop-helix family member gene DOID:0050990 episodic ataxia type 2 ISO RGD:1343769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532|PMID:29184170 12292235 LYL1 LYL1 basic helix-loop-helix family member gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1343769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12292235 LYL1 LYL1 basic helix-loop-helix family member gene DOID:0111254 glutaric acidemia I ISO RGD:1343769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12292235 LYL1 LYL1 basic helix-loop-helix family member gene DOID:1037 lymphoid leukemia ISO RGD:1343769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3162254 12292235 LYL1 LYL1 basic helix-loop-helix family member gene DOID:3413 alpha-mannosidosis ISO RGD:1343769 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12292235 LYL1 LYL1 basic helix-loop-helix family member gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1343769 D RGD:7240710 20200325 OMIM 12292235 LYL1 LYL1 basic helix-loop-helix family member gene DOID:630 genetic disease ISO RGD:1343769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292235 LYL1 LYL1 basic helix-loop-helix family member gene DOID:9119 acute myeloid leukemia ISO RGD:1343769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16094422 12292244 PRR23A proline rich 23A gene DOID:630 genetic disease ISO RGD:2312708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292254 POLR2E RNA polymerase II, I and III subunit E gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1313437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 12292254 POLR2E RNA polymerase II, I and III subunit E gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1313437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 12292254 POLR2E RNA polymerase II, I and III subunit E gene DOID:5339 cyclic hematopoiesis ISO RGD:1313437 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12292254 POLR2E RNA polymerase II, I and III subunit E gene DOID:630 genetic disease ISO RGD:1313437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292254 POLR2E RNA polymerase II, I and III subunit E gene DOID:9007661 Dwarfism ISO RGD:1313437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12292269 ATP6V1G1 ATPase H+ transporting V1 subunit G1 gene DOID:630 genetic disease ISO RGD:1320793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292273 C4H5orf22 chromosome 4 C5orf22 homolog gene DOID:630 genetic disease ISO RGD:1605070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292273 C4H5orf22 chromosome 4 C5orf22 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12292286 PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:0080422 Dravet syndrome ISO RGD:734297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 12292286 PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:734297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12292286 PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:734297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12292286 PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:734297 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12292286 PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:1540 parathyroid carcinoma ISO RGD:734297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12292286 PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:5812 MHC class II deficiency ISO RGD:734297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12292286 PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:630 genetic disease ISO RGD:734297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292286 PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12292309 TLR10 toll like receptor 10 gene DOID:2841 asthma susceptibility ISO RGD:1323096 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:18547625|REF_RGD_ID:4889528 12292309 TLR10 toll like receptor 10 gene DOID:630 genetic disease ISO RGD:1323096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292309 TLR10 toll like receptor 10 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1323096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 12292323 LOC100682826 melanoma-associated antigen 10-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347095 D RGD:8554872 20220524 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12292323 LOC100682826 melanoma-associated antigen 10-like gene DOID:1227 neutropenia ISO RGD:1347095 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 12292323 LOC100682826 melanoma-associated antigen 10-like gene DOID:12849 autistic disorder ISO RGD:1347095 D RGD:8554872 20220524 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12292323 LOC100682826 melanoma-associated antigen 10-like gene DOID:1909 melanoma ISO RGD:1347095 D RGD:9068941 20220519 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 12292323 LOC100682826 melanoma-associated antigen 10-like gene DOID:5419 schizophrenia ISO RGD:1347095 D RGD:9068941 20220519 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12292323 LOC100682826 melanoma-associated antigen 10-like gene DOID:630 genetic disease ISO RGD:1347095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292350 C7H1orf74 chromosome 7 C1orf74 homolog gene DOID:0060239 Van der Woude syndrome ISO RGD:1606707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Van der Woude syndrome 1 PMID:14618417 12292350 C7H1orf74 chromosome 7 C1orf74 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1606707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12292350 C7H1orf74 chromosome 7 C1orf74 homolog gene DOID:630 genetic disease ISO RGD:1606707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292350 C7H1orf74 chromosome 7 C1orf74 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12292371 GM2A ganglioside GM2 activator gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353976 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12292371 GM2A ganglioside GM2 activator gene DOID:1289 neurodegenerative disease ISO RGD:1353976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy PMID:25558065|PMID:26203402|PMID:28417072|PMID:28492532|PMID:33456446 12292371 GM2A ganglioside GM2 activator gene DOID:3320 Tay-Sachs disease ISO RGD:1353976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease 12292371 GM2A ganglioside GM2 activator gene DOID:3321 GM2 gangliosidosis ISO RGD:1353976 D RGD:9068941 20200609 RGD Tay-Sachs Disease, AB Variant PMID:10364519|REF_RGD_ID:1598993 12292371 GM2A ganglioside GM2 activator gene DOID:4795 GM2 Gangliosidosis, AB variant ISO RGD:1353976 D RGD:7240710 20180130 OMIM 12292371 GM2A ganglioside GM2 activator gene DOID:4795 GM2 Gangliosidosis, AB variant ISO RGD:1353976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease, variant AB PMID:10364519|PMID:1570834|PMID:174379|PMID:17576681|PMID:1915858|PMID:24767253|PMID:25558065|PMID:25741868|PMID:26082327|PMID:26203402|PMID:28417072|PMID:28492532|PMID:33456446|PMID:8244332|PMID:8900233|PMID:9536098 12292371 GM2A ganglioside GM2 activator gene DOID:630 genetic disease ISO RGD:1353976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12292371 GM2A ganglioside GM2 activator gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353976 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12292379 TIGD4 tigger transposable element derived 4 gene DOID:630 genetic disease ISO RGD:1314017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292468 TRAF3IP2 TRAF3 interacting protein 2 gene DOID:0111287 psoriasis 13 ISO RGD:1312403 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Psoriasis 13, susceptibility to PMID:20953186|PMID:20953188|PMID:22581863|PMID:24033266|PMID:24120361|PMID:25741868|PMID:28492532 12292468 TRAF3IP2 TRAF3 interacting protein 2 gene DOID:0111287 psoriasis 13 susceptibility ISO RGD:1312403 D RGD:7240710 20230517 OMIM 12292468 TRAF3IP2 TRAF3 interacting protein 2 gene DOID:12894 Sjogren's syndrome ISO RGD:1312404 D RGD:9068941 20220825 MouseDO OMIM:270150 12292468 TRAF3IP2 TRAF3 interacting protein 2 gene DOID:3310 atopic dermatitis ISO RGD:1312404 D RGD:9068941 20220825 MouseDO OMIM:603165 12292468 TRAF3IP2 TRAF3 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1312403 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12292468 TRAF3IP2 TRAF3 interacting protein 2 gene DOID:8893 psoriasis ISO RGD:1312403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953186|PMID:20953188|PMID:20953190 12292468 TRAF3IP2 TRAF3 interacting protein 2 gene DOID:9003552 Candidiasis, Familial, 8 ISO RGD:1312403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 8 PMID:16199547|PMID:17576681|PMID:20953186|PMID:20953188|PMID:22513239|PMID:22581863|PMID:24033266|PMID:24120361|PMID:25741868|PMID:28492532|PMID:9536098 12292468 TRAF3IP2 TRAF3 interacting protein 2 gene DOID:9003552 Candidiasis, Familial, 8 susceptibility ISO RGD:1312403 D RGD:7240710 20230517 OMIM 12292468 TRAF3IP2 TRAF3 interacting protein 2 gene DOID:9006779 Discoid Lupus Erythematosus ISO RGD:1312403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Discoid lupus erythematosus PMID:25741868 12292468 TRAF3IP2 TRAF3 interacting protein 2 gene DOID:9008 psoriatic arthritis ISO RGD:1312403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953186|PMID:20953188 12292468 TRAF3IP2 TRAF3 interacting protein 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:1312404 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12292491 MYL3 myosin light chain 3 gene DOID:0050638 transthyretin amyloidosis ISO RGD:736456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:24033266|PMID:24510615|PMID:25741868|PMID:28492532 12292491 MYL3 myosin light chain 3 gene DOID:0050700 cardiomyopathy ISO RGD:736456 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:08673105|PMID:11174330|PMID:12021217|PMID:16754800|PMID:17142342|PMID:18403758|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:21885653|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23054336|PMID:23283745|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24911555|PMID:25086479|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25856671|PMID:25910212|PMID:26385864|PMID:26443374|PMID:26633542|PMID:27153395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27831900|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28615295|PMID:28658286|PMID:28771489|PMID:28790153|PMID:28971120|PMID:29121657|PMID:29253866|PMID:29420653|PMID:29540472|PMID:29669825|PMID:29709087|PMID:29710196|PMID:29914921|PMID:30297972|PMID:30706179|PMID:31110529|PMID:31199839|PMID:31447099|PMID:31513939|PMID:31737537|PMID:32380161|PMID:32492895|PMID:32686758|PMID:32906206|PMID:33087929|PMID:33407484|PMID:33726816|PMID:8673105 12292491 MYL3 myosin light chain 3 gene DOID:0050700 cardiomyopathy ISO RGD:736456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:08673105|PMID:11174330|PMID:12021217|PMID:16754800|PMID:17142342|PMID:18403758|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:21885653|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23054336|PMID:23283745|PMID:23304510|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24784157|PMID:24911555|PMID:25086479|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25856671|PMID:25910212|PMID:26332594|PMID:26385864|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27332903|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27831900|PMID:28193612|PMID:28241245|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28615295|PMID:28658286|PMID:28771489|PMID:28790153|PMID:28971120|PMID:29121657|PMID:29253866|PMID:29343803|PMID:29386531|PMID:29398688|PMID:29420653|PMID:29540472|PMID:29669825|PMID:29709087|PMID:29710196|PMID:29914921|PMID:30297972|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31513939|PMID:31618753|PMID:31737537|PMID:32009526|PMID:32380161|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33288880|PMID:33407484|PMID:33495597|PMID:33662488|PMID:33726816|PMID:34426522|PMID:8673105 12292491 MYL3 myosin light chain 3 gene DOID:0050700 cardiomyopathy ISO RGD:736456 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:08673105|PMID:11174330|PMID:12021217|PMID:16754800|PMID:17142342|PMID:18403758|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:21885653|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23054336|PMID:23283745|PMID:23304510|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24784157|PMID:24911555|PMID:25086479|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25856671|PMID:25910212|PMID:26332594|PMID:26385864|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27332903|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27831900|PMID:28193612|PMID:28241245|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28615295|PMID:28658286|PMID:28771489|PMID:28790153|PMID:28971120|PMID:29121657|PMID:29253866|PMID:29343803|PMID:29386531|PMID:29398688|PMID:29420653|PMID:29540472|PMID:29669825|PMID:29709087|PMID:29710196|PMID:29914921|PMID:30297972|PMID:30665703|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31513939|PMID:31554435|PMID:31618753|PMID:31737537|PMID:32009526|PMID:32380161|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33288880|PMID:33407484|PMID:33495597|PMID:33662488|PMID:33726816|PMID:34426522|PMID:35629155|PMID:35653365|PMID:8673105 12292491 MYL3 myosin light chain 3 gene DOID:0060387 chondrodysplasia Blomstrand type ISO RGD:736456 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type 12292491 MYL3 myosin light chain 3 gene DOID:0080020 Jansen's metaphyseal chondrodysplasia ISO RGD:736456 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, Jansen type 12292491 MYL3 myosin light chain 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736456 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11174330|PMID:12021217|PMID:16754800|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23283745|PMID:23304510|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24784157|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25910212|PMID:26332594|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:28166811|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28492532|PMID:28518168|PMID:28658286|PMID:28771489|PMID:28971120|PMID:29343803|PMID:29669825|PMID:29710196|PMID:29914921|PMID:30165862|PMID:30297972|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31737537|PMID:32746448|PMID:32906206|PMID:33288880|PMID:33495597|PMID:34426522|PMID:8673105 12292491 MYL3 myosin light chain 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736456 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11174330|PMID:12021217|PMID:16754800|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23283745|PMID:23304510|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24784157|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25910212|PMID:26332594|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28658286|PMID:28771489|PMID:28971120|PMID:29343803|PMID:29398688|PMID:29669825|PMID:29710196|PMID:29914921|PMID:30165862|PMID:30297972|PMID:30665703|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31513939|PMID:31554435|PMID:31618753|PMID:31737537|PMID:32746448|PMID:32906206|PMID:33288880|PMID:33495597|PMID:33673806|PMID:34426522|PMID:35629155|PMID:35653365|PMID:8673105 12292491 MYL3 myosin light chain 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736456 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:11174330|PMID:12021217|PMID:16754800|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23283745|PMID:23304510|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24784157|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25910212|PMID:26332594|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28658286|PMID:28771489|PMID:28971120|PMID:29343803|PMID:29398688|PMID:29669825|PMID:29710196|PMID:29914921|PMID:30297972|PMID:30665703|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31554435|PMID:31618753|PMID:32746448|PMID:32906206|PMID:33288880|PMID:33495597|PMID:34426522|PMID:35629155|PMID:35653365|PMID:8673105 12292491 MYL3 myosin light chain 3 gene DOID:0110314 hypertrophic cardiomyopathy 8 ISO RGD:736456 D RGD:7240710 20180130 OMIM 12292491 MYL3 myosin light chain 3 gene DOID:0110314 hypertrophic cardiomyopathy 8 ISO RGD:736456 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 8 PMID:08673105|PMID:11174330|PMID:12021217|PMID:16199547|PMID:16267253|PMID:16754800|PMID:17142342|PMID:17576681|PMID:18403758|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:21885653|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23054336|PMID:23283745|PMID:23304510|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24784157|PMID:24911555|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25856671|PMID:25910212|PMID:26332594|PMID:26385864|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27332903|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27831900|PMID:28193612|PMID:28241245|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28615295|PMID:28658286|PMID:28771489|PMID:28790153|PMID:28971120|PMID:29121657|PMID:29253866|PMID:29343803|PMID:29398688|PMID:29669825|PMID:29709087|PMID:29710196|PMID:29914921|PMID:30297972|PMID:30665703|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31513939|PMID:31554435|PMID:31618753|PMID:31737537|PMID:32380161|PMID:32492895|PMID:32686758|PMID:32746448|PMID:33087929|PMID:33288880|PMID:33407484|PMID:33495597|PMID:33662488|PMID:33726816|PMID:34426522|PMID:35629155|PMID:35653365|PMID:6211078|PMID:8673105|PMID:9536098 12292491 MYL3 myosin light chain 3 gene DOID:0111425 restrictive cardiomyopathy 1 ISO RGD:736456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 PMID:08673105|PMID:17142342|PMID:22131351|PMID:22958901|PMID:23054336|PMID:23283745|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28790153|PMID:29253866|PMID:29709087|PMID:31110529|PMID:8673105 12292491 MYL3 myosin light chain 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736456 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:08673105|PMID:11174330|PMID:12021217|PMID:16199547|PMID:16267253|PMID:16754800|PMID:17142342|PMID:17576681|PMID:18403758|PMID:18409188|PMID:20031618|PMID:20641121|PMID:21239446|PMID:21823217|PMID:21885653|PMID:21896538|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23054336|PMID:23283745|PMID:23304510|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24784157|PMID:24911555|PMID:25086479|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25856671|PMID:25910212|PMID:26332594|PMID:26385864|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27332903|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27831900|PMID:28193612|PMID:28241245|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28615295|PMID:28658286|PMID:28771489|PMID:28790153|PMID:28971120|PMID:29121657|PMID:29253866|PMID:29343803|PMID:29386531|PMID:29398688|PMID:29420653|PMID:29540472|PMID:29669825|PMID:29709087|PMID:29710196|PMID:29914921|PMID:30165862|PMID:30297972|PMID:30665703|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31513939|PMID:31554435|PMID:31618753|PMID:31737537|PMID:32009526|PMID:32380161|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33288880|PMID:33407484|PMID:33495597|PMID:33662488|PMID:33673806|PMID:33726816|PMID:34426522|PMID:35629155|PMID:35653365|PMID:6211078|PMID:8673105|PMID:9536098 12292491 MYL3 myosin light chain 3 gene DOID:397 restrictive cardiomyopathy ISO RGD:736456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:24111713|PMID:25132132|PMID:25741868|PMID:27532257|PMID:28492532 12292491 MYL3 myosin light chain 3 gene DOID:630 genetic disease ISO RGD:736456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12292491 MYL3 myosin light chain 3 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:736456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12292491 MYL3 myosin light chain 3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:736456 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Increased left ventricular wall thickness PMID:16754800|PMID:22958901|PMID:23549607|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25637381|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30665703|PMID:33495597|PMID:35653365 12292506 RTBDN retbindin gene DOID:0050990 episodic ataxia type 2 ISO RGD:1606213 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12292506 RTBDN retbindin gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1606213 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12292506 RTBDN retbindin gene DOID:0111254 glutaric acidemia I ISO RGD:1606213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12292506 RTBDN retbindin gene DOID:3413 alpha-mannosidosis ISO RGD:1606213 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12292506 RTBDN retbindin gene DOID:630 genetic disease ISO RGD:1606213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292506 RTBDN retbindin gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1606213 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:28492532 12292506 RTBDN retbindin gene DOID:9005834 Ependymomas ISO RGD:1606213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075792 12292526 WDR83OS WD repeat domain 83 opposite strand gene DOID:0050990 episodic ataxia type 2 ISO RGD:1605383 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12292526 WDR83OS WD repeat domain 83 opposite strand gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1605383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12292526 WDR83OS WD repeat domain 83 opposite strand gene DOID:0111254 glutaric acidemia I ISO RGD:1605383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12292526 WDR83OS WD repeat domain 83 opposite strand gene DOID:3413 alpha-mannosidosis ISO RGD:1605383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:22161967|PMID:28492532|PMID:32331969|PMID:9915946 12292526 WDR83OS WD repeat domain 83 opposite strand gene DOID:630 genetic disease ISO RGD:1605383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292534 CCDC179 coiled-coil domain containing 179 gene DOID:1059 intellectual disability ISO RGD:7205404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12292534 CCDC179 coiled-coil domain containing 179 gene DOID:630 genetic disease ISO RGD:7205404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292542 SLC5A12 solute carrier family 5 member 12 gene DOID:1059 intellectual disability ISO RGD:1345162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12292542 SLC5A12 solute carrier family 5 member 12 gene DOID:630 genetic disease ISO RGD:1345162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292561 TBC1D20 TBC1 domain family member 20 gene DOID:0060237 Warburg micro syndrome ISO RGD:1346411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12292561 TBC1D20 TBC1 domain family member 20 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1346411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:20206331|PMID:22824638|PMID:24239381|PMID:25462087|PMID:28492532 12292561 TBC1D20 TBC1 domain family member 20 gene DOID:0110719 Warburg micro syndrome 4 ISO RGD:1346411 D RGD:7240710 20180130 OMIM 12292561 TBC1D20 TBC1 domain family member 20 gene DOID:0110719 Warburg micro syndrome 4 ISO RGD:1346411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome 4 PMID:24239381|PMID:25741868|PMID:32740904 12292561 TBC1D20 TBC1 domain family member 20 gene DOID:630 genetic disease ISO RGD:1346411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12292561 TBC1D20 TBC1 domain family member 20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12292561 TBC1D20 TBC1 domain family member 20 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:1346411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532 12292576 EPHA2 EPH receptor A2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1316258 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12292576 EPHA2 EPH receptor A2 gene DOID:0110229 cataract 6 multiple types ISO RGD:1316258 D RGD:7240710 20180130 OMIM 12292576 EPHA2 EPH receptor A2 gene DOID:0110229 cataract 6 multiple types ISO RGD:1316258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Age-related cortical cataract | ClinVar Annotator: match by term: Cataract 6 multiple types | ClinVar Annotator: match by term: Cataract 6, age-related cortical PMID:12167657|PMID:15965161|PMID:16051609|PMID:17576681|PMID:19005574|PMID:19306328|PMID:19649315|PMID:20360610|PMID:20361013|PMID:20625407|PMID:22167091|PMID:22570727|PMID:22645087|PMID:22829731|PMID:23447127|PMID:24014202|PMID:24705208|PMID:24968223|PMID:25148791|PMID:25741868|PMID:26900323|PMID:27315345|PMID:28492532|PMID:29770612|PMID:9536098 12292576 EPHA2 EPH receptor A2 gene DOID:13574 cortical senile cataract ISO RGD:1316258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cortical senile cataract PMID:19649315|PMID:20625407|PMID:22645087|PMID:22829731|PMID:23447127|PMID:24705208 12292576 EPHA2 EPH receptor A2 gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:1316258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22845314 12292576 EPHA2 EPH receptor A2 gene DOID:14566 disease of cellular proliferation ISO RGD:1316258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21479221 12292576 EPHA2 EPH receptor A2 gene DOID:3490 Noonan syndrome ISO RGD:1316258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22845314 12292576 EPHA2 EPH receptor A2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1316258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:20360610|PMID:25741868|PMID:28492532 12292576 EPHA2 EPH receptor A2 gene DOID:630 genetic disease ISO RGD:1316258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292576 EPHA2 EPH receptor A2 gene DOID:83 cataract ISO RGD:1316258 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:26694549 12292576 EPHA2 EPH receptor A2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1316258 D RGD:9068941 20220826 RGD protein:increased expression:esophagus (human) PMID:33833989|REF_RGD_ID:153344568 12292576 EPHA2 EPH receptor A2 gene DOID:9000918 Disease Progression ISO RGD:1316258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21479221 12292576 EPHA2 EPH receptor A2 gene DOID:9004009 Reperfusion Injury ISO RGD:1307204 D RGD:9068941 20200609 RGD PMID:16735461|REF_RGD_ID:1580976 12292576 EPHA2 EPH receptor A2 gene DOID:9007748 Retinal Neovascularization ISO RGD:1307204 D RGD:9068941 20200609 RGD PMID:16359662|REF_RGD_ID:1580975 12292576 EPHA2 EPH receptor A2 gene DOID:9007748 Retinal Neovascularization ISO RGD:1316259 D RGD:9068941 20200609 RGD PMID:16359662|REF_RGD_ID:1580975 12292597 TRAK2 trafficking kinesin protein 2 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1352646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12292597 TRAK2 trafficking kinesin protein 2 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1352646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12292597 TRAK2 trafficking kinesin protein 2 gene DOID:630 genetic disease ISO RGD:1352646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292597 TRAK2 trafficking kinesin protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12292597 TRAK2 trafficking kinesin protein 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1352646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12292597 TRAK2 trafficking kinesin protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12292597 TRAK2 trafficking kinesin protein 2 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1352646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12292621 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:0050753 cerebellar ataxia ISO RGD:68989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 12292621 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:0050952 spastic ataxia ISO RGD:68989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 12292621 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:0111742 cerebellar ataxia type 42 ISO RGD:68989 D RGD:7240710 20190315 OMIM 12292621 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:0111742 cerebellar ataxia type 42 ISO RGD:68989 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 42 PMID:25741868|PMID:26456284|PMID:26715324|PMID:28490766|PMID:28492532|PMID:29629410|PMID:29878067|PMID:32736238|PMID:32860008|PMID:32878331 12292621 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:1059 intellectual disability ISO RGD:68989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12292621 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:1826 epilepsy ISO RGD:68989 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12292621 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:68989 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cholestanol storage disease PMID:25741868 12292621 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:68989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile myoclonic epilepsy 12292621 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:630 genetic disease ISO RGD:68989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29878067|PMID:32736238|PMID:32878331 12292621 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:68989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12292621 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:29878067 12292621 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:68942 D RGD:9068941 20200609 RGD mRNA:increased expression:ventricle (rat) PMID:14615287|REF_RGD_ID:2316207 12292621 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:9008582 Developmental Disease ISO RGD:68989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12292621 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:9009231 Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits ISO RGD:68989 D RGD:7240710 20190315 OMIM 12292621 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:9009231 Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits ISO RGD:68989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits PMID:25741868|PMID:28492532|PMID:29878067|PMID:30792901|PMID:31217264|PMID:31836334 12292621 CACNA1G calcium voltage-gated channel subunit alpha1 G gene DOID:936 brain disease ISO RGD:68989 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 12292700 UTS2R urotensin 2 receptor gene DOID:0050700 cardiomyopathy ISO RGD:621884 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:myocardium PMID:18280445|REF_RGD_ID:2306796 12292700 UTS2R urotensin 2 receptor gene DOID:10763 hypertension ISO RGD:621884 D RGD:9068941 20200609 RGD PMID:14621188|REF_RGD_ID:1580812 12292700 UTS2R urotensin 2 receptor gene DOID:12932 endomyocardial fibrosis ISO RGD:621884 D RGD:9068941 20200609 RGD PMID:16919371|REF_RGD_ID:2306833 12292700 UTS2R urotensin 2 receptor gene DOID:3021 acute kidney failure ISO RGD:621884 D RGD:9068941 20200609 RGD PMID:15146030|REF_RGD_ID:2306847 12292700 UTS2R urotensin 2 receptor gene DOID:5844 myocardial infarction ISO RGD:621884 D RGD:9068941 20200609 RGD associated with Heart Failure, Congestive;mRNA:increased expression:heart ventricle PMID:15549273|REF_RGD_ID:2306846 12292700 UTS2R urotensin 2 receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:1342744 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:15492948|REF_RGD_ID:2306805 12292700 UTS2R urotensin 2 receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:621884 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney PMID:18796544|REF_RGD_ID:2306786 12292700 UTS2R urotensin 2 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621884 D RGD:9068941 20200609 RGD PMID:16267137|REF_RGD_ID:2306839 12292700 UTS2R urotensin 2 receptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:621884 D RGD:9068941 20200609 RGD PMID:17900760|REF_RGD_ID:2306836 12292700 UTS2R urotensin 2 receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:1332177 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:19323985|REF_RGD_ID:2306785 12292701 ZMYM3 zinc finger MYM-type containing 3 gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:1350026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532 12292701 ZMYM3 zinc finger MYM-type containing 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12292701 ZMYM3 zinc finger MYM-type containing 3 gene DOID:1059 intellectual disability ISO RGD:1350026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12292701 ZMYM3 zinc finger MYM-type containing 3 gene DOID:12849 autistic disorder ISO RGD:1350026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12292701 ZMYM3 zinc finger MYM-type containing 3 gene DOID:630 genetic disease ISO RGD:1350026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292701 ZMYM3 zinc finger MYM-type containing 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052|PMID:29610475|PMID:29662167 12292701 ZMYM3 zinc finger MYM-type containing 3 gene DOID:9007898 FG Syndrome 1 ISO RGD:1350026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 12292701 ZMYM3 zinc finger MYM-type containing 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1350026 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24721225 12292741 HTR3C 5-hydroxytryptamine receptor 3C gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1353896 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12292741 HTR3C 5-hydroxytryptamine receptor 3C gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1353896 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12292741 HTR3C 5-hydroxytryptamine receptor 3C gene DOID:0111546 Currarino syndrome ISO RGD:1353896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12292741 HTR3C 5-hydroxytryptamine receptor 3C gene DOID:12849 autistic disorder ISO RGD:1353896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19035560 12292741 HTR3C 5-hydroxytryptamine receptor 3C gene DOID:630 genetic disease ISO RGD:1353896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292755 CTDSPL CTD small phosphatase like gene DOID:0050451 Brugada syndrome ISO RGD:1345284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 12292755 CTDSPL CTD small phosphatase like gene DOID:0060646 congenital chylothorax ISO RGD:1322519 D RGD:9068941 20220825 MouseDO OMIM:603523 12292755 CTDSPL CTD small phosphatase like gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345284 D RGD:9068941 20220908 RGD mRNA:decreased expression:lung (human) PMID:22491060|REF_RGD_ID:153350086 12292755 CTDSPL CTD small phosphatase like gene DOID:630 genetic disease ISO RGD:1345284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292755 CTDSPL CTD small phosphatase like gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1345284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 12292767 MMP20 matrix metallopeptidase 20 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1318675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 12292767 MMP20 matrix metallopeptidase 20 gene DOID:0080226 autosomal dominant intellectual developmental disorder 56 ISO RGD:1318675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 PMID:15744043|PMID:16246936|PMID:18096894|PMID:19966041|PMID:22243262|PMID:23355523|PMID:23625376|PMID:25741868|PMID:26124219 12292767 MMP20 matrix metallopeptidase 20 gene DOID:0110056 amelogenesis imperfecta type 1C ISO RGD:1318675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive 12292767 MMP20 matrix metallopeptidase 20 gene DOID:0110060 amelogenesis imperfecta hypomaturation type 2A2 ISO RGD:1318675 D RGD:7240710 20180130 OMIM 12292767 MMP20 matrix metallopeptidase 20 gene DOID:0110060 amelogenesis imperfecta hypomaturation type 2A2 ISO RGD:1318675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 PMID:15744043|PMID:16246936|PMID:18096894|PMID:19966041|PMID:21597265|PMID:22243262|PMID:23355523|PMID:23625376|PMID:25741868|PMID:26502894|PMID:28473773|PMID:28492532|PMID:28659819 12292767 MMP20 matrix metallopeptidase 20 gene DOID:1059 intellectual disability ISO RGD:1318675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12292767 MMP20 matrix metallopeptidase 20 gene DOID:12704 ataxia telangiectasia ISO RGD:1318675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12292767 MMP20 matrix metallopeptidase 20 gene DOID:5419 schizophrenia ISO RGD:1318675 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12292767 MMP20 matrix metallopeptidase 20 gene DOID:630 genetic disease ISO RGD:1318675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292779 SPESP1 sperm equatorial segment protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1349587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12292779 SPESP1 sperm equatorial segment protein 1 gene DOID:630 genetic disease ISO RGD:1349587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292779 SPESP1 sperm equatorial segment protein 1 gene DOID:9256 colorectal cancer ISO RGD:1349587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12292794 ARHGEF1 Rho guanine nucleotide exchange factor 1 gene DOID:0111991 immunodeficiency 62 ISO RGD:30307884 D RGD:7240710 20201125 OMIM 12292794 ARHGEF1 Rho guanine nucleotide exchange factor 1 gene DOID:0111991 immunodeficiency 62 ISO RGD:30307884 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 62 PMID:25741868|PMID:28492532|PMID:30521495 12292794 ARHGEF1 Rho guanine nucleotide exchange factor 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:30307884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12292794 ARHGEF1 Rho guanine nucleotide exchange factor 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:30307884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12292794 ARHGEF1 Rho guanine nucleotide exchange factor 1 gene DOID:2340 craniosynostosis ISO RGD:30307884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12292794 ARHGEF1 Rho guanine nucleotide exchange factor 1 gene DOID:5419 schizophrenia ISO RGD:30307884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12292794 ARHGEF1 Rho guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:30307884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12292794 ARHGEF1 Rho guanine nucleotide exchange factor 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:30307884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12292794 ARHGEF1 Rho guanine nucleotide exchange factor 1 gene DOID:9269 maple syrup urine disease ISO RGD:30307884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12292847 TMEM250 transmembrane protein 250 gene DOID:0050777 Joubert syndrome ISO RGD:1349018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12292847 TMEM250 transmembrane protein 250 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1349018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:27891178|PMID:28492532|PMID:31209758 12292847 TMEM250 transmembrane protein 250 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1349018 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12292847 TMEM250 transmembrane protein 250 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1349018 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12292847 TMEM250 transmembrane protein 250 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1349018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12292847 TMEM250 transmembrane protein 250 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1349018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12292847 TMEM250 transmembrane protein 250 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1349018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12292847 TMEM250 transmembrane protein 250 gene DOID:0081097 Rafiq syndrome ISO RGD:1349018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12292847 TMEM250 transmembrane protein 250 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1349018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12292847 TMEM250 transmembrane protein 250 gene DOID:3652 Leigh disease ISO RGD:1349018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12292847 TMEM250 transmembrane protein 250 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1349018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 12292897 MDM1 Mdm1 nuclear protein gene DOID:10871 age related macular degeneration ISO RGD:1621610 D RGD:9068941 20220825 MouseDO 12292897 MDM1 Mdm1 nuclear protein gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1621610 D RGD:9068941 20200609 RGD DNA, mRNA:nonsense mutation, decreased expression:retina PMID:18805803|REF_RGD_ID:10412062 12292897 MDM1 Mdm1 nuclear protein gene DOID:630 genetic disease ISO RGD:1352515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292921 EPB41L4B erythrocyte membrane protein band 4.1 like 4B gene DOID:630 genetic disease ISO RGD:1320612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292951 GRHL1 grainyhead like transcription factor 1 gene DOID:630 genetic disease ISO RGD:1313942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292980 ZFAND5 zinc finger AN1-type containing 5 gene DOID:630 genetic disease ISO RGD:1349305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12292980 ZFAND5 zinc finger AN1-type containing 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12292993 CCDC63 coiled-coil domain containing 63 gene DOID:1909 melanoma ISO RGD:1604733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 12292993 CCDC63 coiled-coil domain containing 63 gene DOID:630 genetic disease ISO RGD:1604733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12293025 TAOK3 TAO kinase 3 gene DOID:10283 prostate cancer ISO RGD:1605388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12293025 TAOK3 TAO kinase 3 gene DOID:630 genetic disease ISO RGD:1605388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12293025 TAOK3 TAO kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12293050 STN1 STN1 subunit of CST complex gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1313785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23583980 12293050 STN1 STN1 subunit of CST complex gene DOID:1909 melanoma ISO RGD:1313785 D RGD:9068941 20220610 RGD DNA:SNP:cds:rs9420907|rs2995264 (human) PMID:25231748|REF_RGD_ID:152995261 12293050 STN1 STN1 subunit of CST complex gene DOID:4001 ovarian carcinoma ISO RGD:1313785 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28346442 12293050 STN1 STN1 subunit of CST complex gene DOID:630 genetic disease ISO RGD:1313785 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12293050 STN1 STN1 subunit of CST complex gene DOID:9003025 Cerebroretinal Microangiopathy with Calcifications and Cysts ISO RGD:1313785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12293050 STN1 STN1 subunit of CST complex gene DOID:9005172 Lung Neoplasms ISO RGD:1313785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28604730 12293050 STN1 STN1 subunit of CST complex gene DOID:9005983 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 ISO RGD:1313785 D RGD:7240710 20190315 OMIM 12293050 STN1 STN1 subunit of CST complex gene DOID:9005983 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 ISO RGD:1313785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 PMID:25741868|PMID:27432940|PMID:28492532 12293084 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0050691 branchiooculofacial syndrome ISO RGD:1317054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Branchio-Oculo-Facial Syndrome | ClinVar Annotator: match by term: Branchiooculofacial syndrome PMID:10464653|PMID:15146463|PMID:18220287|PMID:19951260|PMID:21280147|PMID:24033266|PMID:24489909|PMID:25741868|PMID:28492532|PMID:28832562|PMID:30655312 12293084 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0060232 branchiootic syndrome ISO RGD:1317054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Branchiootic dysplasia PMID:10464653|PMID:10991693|PMID:15146463|PMID:18220287|PMID:19951260|PMID:21280147|PMID:23506628|PMID:24033266|PMID:24123792|PMID:24429398|PMID:24489909|PMID:25741868|PMID:26489027|PMID:28492532|PMID:28832562|PMID:29966037|PMID:30655312|PMID:31049720|PMID:9361030 12293084 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0060648 anterior segment dysgenesis ISO RGD:1317054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anterior segment anomalies | ClinVar Annotator: match by term: Anterior segment anomalies and cataract PMID:10655545 12293084 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0080204 renal hypoplasia ISO RGD:1317054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypoplasia PMID:28492532 12293084 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1317054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:10991693|PMID:24033266|PMID:25741868|PMID:31049720 12293084 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0111423 branchiootorenal syndrome 1 ISO RGD:1317054 D RGD:7240710 20191106 OMIM 12293084 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0111423 branchiootorenal syndrome 1 ISO RGD:1317054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Branchiootorenal syndrome 1 PMID:10464653|PMID:10655545|PMID:10991693|PMID:11734542|PMID:15146463|PMID:15802522|PMID:16691597|PMID:16797546|PMID:17576681|PMID:18177466|PMID:18220287|PMID:18678597|PMID:19206155|PMID:19951260|PMID:20848651|PMID:21280147|PMID:22340499|PMID:22382802|PMID:23435380|PMID:23506628|PMID:23967202|PMID:24033266|PMID:24489909|PMID:25107291|PMID:25741868|PMID:26969326|PMID:27657687|PMID:2773990|PMID:28492532|PMID:28832562|PMID:29500469|PMID:30655312|PMID:30937553|PMID:31049720|PMID:33532864|PMID:5365063|PMID:9020840|PMID:9361030|PMID:9536098|PMID:9603436 12293084 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:10283 prostate cancer ISO RGD:1317054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12293084 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1317054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:10991693|PMID:24033266|PMID:25741868|PMID:31049720 12293084 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:1317054 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Branchiootorenal Spectrum Disorders | ClinVar Annotator: match by term: Branchiootorenal syndrome | ClinVar Annotator: match by term: Branchiootorenal syndrome with cataract | ClinVar Annotator: match by term: Melnick-Fraser syndrome PMID:10429368|PMID:10464653|PMID:10655545|PMID:10991693|PMID:11683347|PMID:11734542|PMID:12404110|PMID:15146463|PMID:15802522|PMID:16199547|PMID:16441263|PMID:16491411|PMID:16691597|PMID:16797546|PMID:17576681|PMID:18065799|PMID:18177466|PMID:18220287|PMID:18678597|PMID:19206155|PMID:19951260|PMID:20848651|PMID:21280147|PMID:22340499|PMID:22382802|PMID:22447252|PMID:23435380|PMID:23508780|PMID:23552953|PMID:23840632|PMID:23967202|PMID:24033266|PMID:24123792|PMID:24429398|PMID:24489909|PMID:25107291|PMID:25741868|PMID:26310487|PMID:26467025|PMID:26489027|PMID:26667035|PMID:26969326|PMID:27657687|PMID:2773990|PMID:28289595|PMID:28492532|PMID:28832562|PMID:29500469|PMID:29966037|PMID:30311386|PMID:30655312|PMID:30937553|PMID:31427586|PMID:33240318|PMID:34031707|PMID:34160378|PMID:35982127|PMID:9020840|PMID:9361030|PMID:9536098|PMID:9603436 12293084 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:14766 renal agenesis ISO RGD:1317054 D RGD:8554872 20220531 ClinVar ClinVar Annotator: match by term: Bilateral renal agenesis PMID:25741868|PMID:35005812 12293084 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:1682 congenital heart disease ISO RGD:1317054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15493068 12293084 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:630 genetic disease ISO RGD:1317054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10464653|PMID:16691597|PMID:18177466|PMID:18220287|PMID:21280147|PMID:24033266|PMID:25741868|PMID:26969326|PMID:28492532|PMID:29500469|PMID:35982127|PMID:9603436 12293084 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:699 mitochondrial myopathy ISO RGD:1317054 D RGD:9068941 20200609 RGD mRNA:increased expression:muscle: PMID:23107834|REF_RGD_ID:8694159 12293084 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:83 cataract ISO RGD:1317054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:15146463|PMID:18220287|PMID:24033266|PMID:24123792|PMID:24429398|PMID:25741868|PMID:26489027|PMID:28492532|PMID:29966037|PMID:9361030 12293084 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9000096 Lung Agenesis ISO RGD:1584849 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:lung epithelium: PMID:24528972|REF_RGD_ID:8554873 12293084 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9002083 Branchiootic Syndrome 1 ISO RGD:1317054 D RGD:7240710 20200930 OMIM 12293084 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9002083 Branchiootic Syndrome 1 ISO RGD:1317054 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: BO syndrome 1 | ClinVar Annotator: match by term: Branchiootic syndrome 1 PMID:10464653|PMID:10655545|PMID:10991693|PMID:11683347|PMID:11734542|PMID:12701758|PMID:15146463|PMID:15493068|PMID:15802522|PMID:16199547|PMID:16691597|PMID:16797546|PMID:17576681|PMID:18177466|PMID:18220287|PMID:18678597|PMID:19951260|PMID:21280147|PMID:22340499|PMID:22447252|PMID:23435380|PMID:23506628|PMID:23552953|PMID:23967202|PMID:24033266|PMID:24123792|PMID:24429398|PMID:24489909|PMID:25107291|PMID:25741868|PMID:26467025|PMID:26489027|PMID:26667035|PMID:26969326|PMID:27657687|PMID:28492532|PMID:28832562|PMID:29966037|PMID:30311386|PMID:30655312|PMID:31049720|PMID:33240318|PMID:9359046|PMID:9361030|PMID:9536098 12293084 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9002601 Otofaciocervical Syndrome 1 ISO RGD:1317054 D RGD:7240710 20180130 OMIM 12293084 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9002601 Otofaciocervical Syndrome 1 ISO RGD:1317054 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Otofaciocervical syndrome 1 PMID:10464653|PMID:10655545|PMID:10991693|PMID:11734542|PMID:12701758|PMID:15146463|PMID:15802522|PMID:16199547|PMID:16441263|PMID:16797546|PMID:18220287|PMID:18678597|PMID:19951260|PMID:22340499|PMID:22447252|PMID:23435380|PMID:23506628|PMID:23552953|PMID:23967202|PMID:24033266|PMID:24123792|PMID:24429398|PMID:24489909|PMID:25741868|PMID:26310487|PMID:26467025|PMID:26489027|PMID:26667035|PMID:28492532|PMID:29966037|PMID:30311386|PMID:31049720|PMID:9361030 12293084 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1317101 D RGD:9068941 20221103 RGD PMID:21364285|REF_RGD_ID:11561941 12293084 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9003483 Conductive Hearing Loss ISO RGD:1317054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10471511 12293084 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9004538 Hearing Loss ISO RGD:1317054 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:23552953|PMID:24033266|PMID:25741868|PMID:26667035|PMID:28492532|PMID:30311386 12293084 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:1317054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10471511 12293084 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9006596 Cayler Cardiofacial Syndrome ISO RGD:1317054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15493068 12293084 EYA1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1317054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10471511 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0050545 visceral heterotaxy ISO RGD:1331854 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0050777 Joubert syndrome ISO RGD:2289739 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27894351|PMID:28492532|PMID:29165578|PMID:29620724|PMID:30267408|PMID:31680349|PMID:32165824|PMID:32488064|PMID:34906502|PMID:8253763|PMID:9536098 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0050777 Joubert syndrome ISO RGD:2289739 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27854218|PMID:27894351|PMID:28125082|PMID:28492532|PMID:29165578|PMID:29620724|PMID:30267408|PMID:31680349|PMID:32165824|PMID:32488064|PMID:34906502|PMID:8253763|PMID:9536098 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0050777 Joubert syndrome ISO RGD:2289739 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25525159|PMID:25741868|PMID:26062849|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28518168|PMID:29039169|PMID:29146704|PMID:29165578|PMID:29620724|PMID:30055837|PMID:30091983|PMID:30267408|PMID:31618753|PMID:31680349|PMID:31738409|PMID:32165824|PMID:32461654|PMID:32488064|PMID:34182252|PMID:34906502|PMID:8253763|PMID:9536098 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0050777 Joubert syndrome ISO RGD:2289739 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25741868|PMID:26062849|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28518168|PMID:29039169|PMID:29146704|PMID:29620724|PMID:30055837|PMID:30091983|PMID:30267408|PMID:31618753|PMID:31680349|PMID:31738409|PMID:32165824|PMID:32461654|PMID:32488064|PMID:34182252|PMID:34194672|PMID:34906502|PMID:8253763|PMID:9536098 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0050778 Meckel syndrome ISO RGD:2289739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:16199547|PMID:18414213|PMID:18950740|PMID:19466712|PMID:19777577|PMID:22241855|PMID:22425360|PMID:23012439|PMID:24033266|PMID:24360807|PMID:25741868|PMID:26062849|PMID:26092869|PMID:26477546|PMID:26485645|PMID:27081510|PMID:27082236|PMID:27894351|PMID:28125082|PMID:28492532|PMID:28497568|PMID:29146704|PMID:30055837 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0060668 anencephaly ISO RGD:2289739 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Anencephaly PMID:16199547|PMID:19466712|PMID:19777577|PMID:25741868|PMID:26092869|PMID:28492532 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0070115 Meckel syndrome 1 ISO RGD:2289739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome PMID:16199547|PMID:18950740|PMID:19777577|PMID:22241855|PMID:22425360|PMID:23012439|PMID:24033266|PMID:24360807|PMID:25741868|PMID:26062849|PMID:26092869|PMID:26477546|PMID:26485645|PMID:27081510|PMID:27082236|PMID:27894351|PMID:28125082|PMID:28492532|PMID:28497568|PMID:29146704|PMID:30055837 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0070120 Meckel syndrome 6 ISO RGD:2289739 D RGD:7240710 20180130 OMIM 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0070120 Meckel syndrome 6 ISO RGD:2289739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 6 PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22995991|PMID:23351400|PMID:24360807|PMID:24706459|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27894351|PMID:28125082|PMID:28492532|PMID:29039169|PMID:32165824|PMID:32488064|PMID:8253763|PMID:9536098 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0110980 Joubert syndrome 1 ISO RGD:2289739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:28492532|PMID:29165578|PMID:29620724|PMID:30267408|PMID:31680349|PMID:32165824|PMID:32488064|PMID:34906502|PMID:8253763|PMID:9536098 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0110980 Joubert syndrome 1 ISO RGD:2289739 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:18950740|PMID:19777577|PMID:21068128|PMID:22241855|PMID:22425360|PMID:22995991|PMID:23012439|PMID:24033266|PMID:24360807|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26485645|PMID:27081510|PMID:27082236|PMID:28492532|PMID:29165578 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0110980 Joubert syndrome 1 ISO RGD:2289739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:18950740|PMID:19777577|PMID:21068128|PMID:22241855|PMID:22425360|PMID:22995991|PMID:23012439|PMID:24033266|PMID:24360807|PMID:25741868|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26485645|PMID:27081510|PMID:27082236|PMID:27894351|PMID:28125082|PMID:28492532|PMID:28497568|PMID:29146704|PMID:30055837 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0111004 Joubert syndrome 9 ISO RGD:2289739 D RGD:7240710 20180130 OMIM 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0111004 Joubert syndrome 9 ISO RGD:2289739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9 | ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic PMID:16199547|PMID:17576681|PMID:18387594|PMID:18414213|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:22241855|PMID:22246503|PMID:22425360|PMID:23012439|PMID:23692786|PMID:24033266|PMID:24706459|PMID:25741868|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:29620724|PMID:30091983|PMID:31618753|PMID:32488064|PMID:34906502|PMID:8253763|PMID:9536098 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:0111004 Joubert syndrome 9 no_association ISO RGD:2289739 D RGD:9068941 20200609 RGD DNA:mutations: :multiple PMID:22241855|REF_RGD_ID:11062645 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:1059 intellectual disability ISO RGD:2289739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28492532 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:1059 intellectual disability no_association ISO RGD:2289739 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs7664843, rs1861044 (human) PMID:22023432|REF_RGD_ID:11535973 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:10907 microcephaly ISO RGD:2289739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:1148 polydactyly ISO RGD:2289739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:19466712|PMID:19777577|PMID:25741868|PMID:26092869|PMID:28492532 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:11836 clubfoot ISO RGD:2289739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:16199547|PMID:19466712|PMID:19777577|PMID:25741868|PMID:26092869|PMID:28492532 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:12712 nephronophthisis ISO RGD:2289739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:630 genetic disease ISO RGD:2289739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:22241855|PMID:22425360|PMID:23012439|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26477546|PMID:26485645|PMID:26729329|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28518168|PMID:31618753|PMID:31738409|PMID:32165824|PMID:32461654|PMID:32488064|PMID:8253763|PMID:9536098 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:8501 fundus dystrophy ISO RGD:2289739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:19777577|PMID:25741868|PMID:28492532 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:9000639 COACH Syndrome 1 ISO RGD:2289739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: COACH syndrome 1 PMID:18414213|PMID:18950740|PMID:19777577|PMID:21068128|PMID:22241855|PMID:22425360|PMID:23012439|PMID:24033266|PMID:24706459|PMID:25741868|PMID:26092869|PMID:26477546|PMID:26485645|PMID:26729329|PMID:27081510|PMID:27082236|PMID:28492532|PMID:28518168|PMID:29620724|PMID:32461654 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:9000983 Encephalocele ISO RGD:2289739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalocele PMID:19777577|PMID:25741868|PMID:26862157|PMID:28492532|PMID:31680349 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:9001186 Retinitis Pigmentosa 93 ISO RGD:2289739 D RGD:7240710 20220427 OMIM 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:9001186 Retinitis Pigmentosa 93 ISO RGD:2289739 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 93 PMID:28492532|PMID:30267408 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:2289739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2289739 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:19777577|PMID:22241855|PMID:22425360|PMID:23012439|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26477546|PMID:26485645|PMID:28492532 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:9006277 COACH Syndrome 2 ISO RGD:2289739 D RGD:7240710 20201223 OMIM 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:9006277 COACH Syndrome 2 ISO RGD:2289739 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: COACH syndrome 2 PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:22241855|PMID:22246503|PMID:25741868|PMID:26092869|PMID:28125082|PMID:28492532|PMID:32488064 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:2289739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12293136 CC2D2A coiled-coil and C2 domain containing 2A gene DOID:936 brain disease ISO RGD:2289739 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 12293191 SAMD15 sterile alpha motif domain containing 15 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1606691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 12293191 SAMD15 sterile alpha motif domain containing 15 gene DOID:630 genetic disease ISO RGD:1606691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12293198 DNAJC25 DnaJ heat shock protein family (Hsp40) member C25 gene DOID:630 genetic disease ISO RGD:1603327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12293206 TENT5A terminal nucleotidyltransferase 5A gene DOID:0111848 osteogenesis imperfecta type 18 ISO RGD:1604353 D RGD:7240710 20190315 OMIM 12293206 TENT5A terminal nucleotidyltransferase 5A gene DOID:0111848 osteogenesis imperfecta type 18 ISO RGD:1604353 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type 18 PMID:25741868|PMID:28492532|PMID:29358272 12293206 TENT5A terminal nucleotidyltransferase 5A gene DOID:10485 esophageal atresia ISO RGD:1604353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12293206 TENT5A terminal nucleotidyltransferase 5A gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1604353 D RGD:9068941 20200609 RGD DNA:repeats: : PMID:25884493|REF_RGD_ID:14390136 12293206 TENT5A terminal nucleotidyltransferase 5A gene DOID:8398 osteoarthritis susceptibility ISO RGD:1604353 D RGD:9068941 20200609 RGD DNA:repeats: : PMID:25231575|REF_RGD_ID:14390133 12293225 SH3D19 SH3 domain containing 19 gene DOID:4990 essential tremor ISO RGD:1605862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 12293225 SH3D19 SH3 domain containing 19 gene DOID:630 genetic disease ISO RGD:1605862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12293264 FOXI3 forkhead box I3 gene DOID:14693 Clouston syndrome IAGP D RGD:12801476 20210603 OMIA Ectodermal dysplasia PMID:8437436|PMID:3998444|PMID:15771734|PMID:18787161|PMID:15958791|PMID:23413772|PMID:23441037|PMID:27994129|PMID:28710361 12293264 FOXI3 forkhead box I3 gene DOID:2907 Goldenhar syndrome ISO RGD:2302532 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Goldenhar syndrome PMID:28492532 12293264 FOXI3 forkhead box I3 gene DOID:630 genetic disease ISO RGD:2302532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12293268 DHCR7 7-dehydrocholesterol reductase gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:731755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 12293268 DHCR7 7-dehydrocholesterol reductase gene DOID:0060318 acute promyelocytic leukemia ISO RGD:731755 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 12293268 DHCR7 7-dehydrocholesterol reductase gene DOID:0070297 primary microcephaly ISO RGD:731755 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:10677299|PMID:10995508|PMID:11078571|PMID:11175299|PMID:15521979|PMID:15670717|PMID:15805162|PMID:16497572|PMID:17965227|PMID:19390132|PMID:20301322|PMID:20556518|PMID:23293579|PMID:24033266|PMID:25741868|PMID:27415407|PMID:28166604|PMID:28250423|PMID:28492532|PMID:33223529|PMID:9634533|PMID:9653161 12293268 DHCR7 7-dehydrocholesterol reductase gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:731755 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12293268 DHCR7 7-dehydrocholesterol reductase gene DOID:1059 intellectual disability ISO RGD:731755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12293268 DHCR7 7-dehydrocholesterol reductase gene DOID:10907 microcephaly ISO RGD:731755 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital microcephaly | ClinVar Annotator: match by term: Microcephaly PMID:10602371|PMID:10677299|PMID:10814720|PMID:10995508|PMID:11078571|PMID:11175299|PMID:15521979|PMID:15670717|PMID:15805162|PMID:15952211|PMID:16044199|PMID:16207203|PMID:16497572|PMID:16983147|PMID:17441222|PMID:17965227|PMID:18006960|PMID:19390132|PMID:20301322|PMID:20556518|PMID:21696385|PMID:23042628|PMID:23293579|PMID:24033266|PMID:25040602|PMID:25741868|PMID:27415407|PMID:28166604|PMID:28250423|PMID:28492532|PMID:33223529|PMID:9634533|PMID:9653161 12293268 DHCR7 7-dehydrocholesterol reductase gene DOID:12849 autistic disorder ISO RGD:731755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14659996 12293268 DHCR7 7-dehydrocholesterol reductase gene DOID:14692 Smith-Lemli-Opitz syndrome ISO RGD:731755 D RGD:7240710 20180130 OMIM 12293268 DHCR7 7-dehydrocholesterol reductase gene DOID:14692 Smith-Lemli-Opitz syndrome ISO RGD:731755 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:10405455|PMID:10602371|PMID:10677299|PMID:10710236|PMID:10807690|PMID:10814720|PMID:10896306|PMID:10995508|PMID:11001807|PMID:11078571|PMID:11111101|PMID:11161831|PMID:11175299|PMID:11186897|PMID:11241839|PMID:11298379|PMID:11427181|PMID:11453964|PMID:11471166|PMID:11562938|PMID:11745994|PMID:11767235|PMID:11857552|PMID:12070263|PMID:12270273|PMID:12794707|PMID:12818773|PMID:12914579|PMID:12949967|PMID:14556255|PMID:14981719|PMID:15013448|PMID:15286151|PMID:15464432|PMID:15521979|PMID:15670717|PMID:15776424|PMID:15805162|PMID:15877207|PMID:15896653|PMID:15952211|PMID:15954111|PMID:15979035|PMID:16044199|PMID:16181459|PMID:16199547|PMID:16207203|PMID:16392899|PMID:16435228|PMID:16497572|PMID:16761297|PMID:16906538|PMID:16983147|PMID:17237122|PMID:17441222|PMID:17497248|PMID:17576681|PMID:17965227|PMID:17974928|PMID:17994283|PMID:18006960|PMID:18076100|PMID:18249054|PMID:18285838|PMID:19365639|PMID:19390132|PMID:20014133|PMID:20052364|PMID:20104611|PMID:20301322|PMID:20556518|PMID:20635399|PMID:20694756|PMID:21696385|PMID:21706511|PMID:21777499|PMID:21990131|PMID:22211794|PMID:22226660|PMID:22382802|PMID:22391996|PMID:22438180|PMID:22929031|PMID:22975760|PMID:23042628|PMID:23293579|PMID:23603282|PMID:23790112|PMID:23918729|PMID:24033266|PMID:24500076|PMID:24813812|PMID:24824134|PMID:25040602|PMID:25108116|PMID:25307054|PMID:25405082|PMID:25533962|PMID:25734025|PMID:25741868|PMID:25807282|PMID:26350204|PMID:26467025|PMID:26539891|PMID:26887953|PMID:26969503|PMID:27401223|PMID:27415407|PMID:27513191|PMID:28166604|PMID:28250423|PMID:28349652|PMID:28397838|PMID:28492532|PMID:28503313|PMID:28972118|PMID:29300326|PMID:29368431|PMID:2945519|PMID:29455191|PMID:29907799|PMID:30925529|PMID:31178897|PMID:31395954|PMID:31840946|PMID:33204589|PMID:33223529|PMID:33270637|PMID:33890232|PMID:35305950|PMID:35795205|PMID:36600793|PMID:8259166|PMID:8737829|PMID:8989473|PMID:9024557|PMID:9536098|PMID:9634533|PMID:9653161|PMID:9683613|PMID:9714006|PMID:9714007 12293268 DHCR7 7-dehydrocholesterol reductase gene DOID:5082 liver cirrhosis ISO RGD:731755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 12293268 DHCR7 7-dehydrocholesterol reductase gene DOID:630 genetic disease ISO RGD:731755 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10405455|PMID:10677299|PMID:10807690|PMID:10814720|PMID:10896306|PMID:10995508|PMID:11078571|PMID:11111101|PMID:11161831|PMID:11175299|PMID:11186897|PMID:11241839|PMID:11298379|PMID:11427181|PMID:11471166|PMID:11562938|PMID:11745994|PMID:12070263|PMID:12270273|PMID:12794707|PMID:12818773|PMID:12914579|PMID:12949967|PMID:14556255|PMID:14981719|PMID:15013448|PMID:15286151|PMID:15464432|PMID:15521979|PMID:15670717|PMID:15776424|PMID:15805162|PMID:15877207|PMID:15896653|PMID:15952211|PMID:15954111|PMID:16044199|PMID:16181459|PMID:16207203|PMID:16392899|PMID:16497572|PMID:16761297|PMID:16906538|PMID:16983147|PMID:17237122|PMID:17441222|PMID:17497248|PMID:17576681|PMID:17965227|PMID:17974928|PMID:17994283|PMID:18076100|PMID:18249054|PMID:18285838|PMID:19365639|PMID:19390132|PMID:20014133|PMID:20052364|PMID:20104611|PMID:20301322|PMID:20556518|PMID:20635399|PMID:20694756|PMID:21777499|PMID:21990131|PMID:22211794|PMID:22226660|PMID:22382802|PMID:22391996|PMID:22438180|PMID:22929031|PMID:22975760|PMID:23042628|PMID:23293579|PMID:23603282|PMID:23918729|PMID:24033266|PMID:24500076|PMID:24813812|PMID:24824134|PMID:25040602|PMID:25108116|PMID:25307054|PMID:25405082|PMID:25734025|PMID:25741868|PMID:25807282|PMID:26350204|PMID:26467025|PMID:26969503|PMID:27401223|PMID:27415407|PMID:27513191|PMID:28166604|PMID:28250423|PMID:28349652|PMID:28492532|PMID:28503313|PMID:28972118|PMID:29300326|PMID:29368431|PMID:29455191|PMID:29907799|PMID:31178897|PMID:31395954|PMID:33223529|PMID:35305950|PMID:35795205|PMID:36600793|PMID:8259166|PMID:8737829|PMID:8989473|PMID:9024557|PMID:9536098|PMID:9634533|PMID:9653161|PMID:9683613|PMID:9714007 12293268 DHCR7 7-dehydrocholesterol reductase gene DOID:687 hepatoblastoma ISO RGD:731755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:12270273|PMID:15670717|PMID:16207203|PMID:16392899|PMID:23042628|PMID:24813812|PMID:25741868|PMID:27401223|PMID:28250423|PMID:28492532|PMID:29300326 12293268 DHCR7 7-dehydrocholesterol reductase gene DOID:9002112 Growth Deficiency and Mental Retardation with Facial Dysmorphism ISO RGD:731755 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wiedemann-Steiner syndrome PMID:10677299|PMID:10896306|PMID:11175299|PMID:12270273|PMID:12818773|PMID:15464432|PMID:15521979|PMID:15776424|PMID:16983147|PMID:18249054|PMID:24500076|PMID:25040602|PMID:25741868|PMID:27513191|PMID:28492532 12293268 DHCR7 7-dehydrocholesterol reductase gene DOID:9002278 Metabolic Bone Diseases ISO RGD:731755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 12293268 DHCR7 7-dehydrocholesterol reductase gene DOID:9005603 Muscle Hypotonia ISO RGD:731756 D RGD:9068941 20200609 RGD PMID:11230174|REF_RGD_ID:734884 12293268 DHCR7 7-dehydrocholesterol reductase gene DOID:9006205 Animal Disease Models ISO RGD:731755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29698737 12293268 DHCR7 7-dehydrocholesterol reductase gene DOID:9008086 Developmental Disabilities ISO RGD:731755 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:10677299|PMID:10807690|PMID:10814720|PMID:10995508|PMID:11161831|PMID:11175299|PMID:11241839|PMID:11427181|PMID:11562938|PMID:12794707|PMID:15286151|PMID:15464432|PMID:15776424|PMID:15805162|PMID:15952211|PMID:16761297|PMID:16906538|PMID:17576681|PMID:17965227|PMID:18285838|PMID:19365639|PMID:20301322|PMID:20635399|PMID:21777499|PMID:22211794|PMID:22226660|PMID:22438180|PMID:22975760|PMID:23042628|PMID:23293579|PMID:23918729|PMID:24033266|PMID:24824134|PMID:25108116|PMID:25741868|PMID:25807282|PMID:26467025|PMID:28166604|PMID:28492532|PMID:29455191|PMID:35305950|PMID:8259166|PMID:8737829|PMID:9024557|PMID:9536098|PMID:9653161|PMID:9683613 12293290 PGAP2 post-GPI attachment to proteins 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12293290 PGAP2 post-GPI attachment to proteins 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12293290 PGAP2 post-GPI attachment to proteins 2 gene DOID:0060327 omphalocele ISO RGD:733101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Omphalocoele PMID:25741868 12293290 PGAP2 post-GPI attachment to proteins 2 gene DOID:0060354 Stormorken syndrome ISO RGD:733101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stormorken syndrome PMID:28492532 12293290 PGAP2 post-GPI attachment to proteins 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:733101 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12293290 PGAP2 post-GPI attachment to proteins 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12293290 PGAP2 post-GPI attachment to proteins 2 gene DOID:630 genetic disease ISO RGD:733101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23561847|PMID:25741868|PMID:28492532|PMID:9536098 12293290 PGAP2 post-GPI attachment to proteins 2 gene DOID:9000867 Hyperphosphatasia with Mental Retardation Syndrome 3 ISO RGD:733101 D RGD:7240710 20180130 OMIM 12293290 PGAP2 post-GPI attachment to proteins 2 gene DOID:9000867 Hyperphosphatasia with Mental Retardation Syndrome 3 ISO RGD:733101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 8 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 3 PMID:21629298|PMID:21643797|PMID:23561846|PMID:23561847|PMID:25741868|PMID:25741869 12293290 PGAP2 post-GPI attachment to proteins 2 gene DOID:9005616 Micrognathism ISO RGD:733101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:25741868 12293330 PCGF5 polycomb group ring finger 5 gene DOID:0080600 COVID-19 ISO RGD:1351153 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12293330 PCGF5 polycomb group ring finger 5 gene DOID:630 genetic disease ISO RGD:1351153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12293352 MPP7 MAGUK p55 scaffold protein 7 gene DOID:303 substance-related disorder ISO RGD:1344792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12293352 MPP7 MAGUK p55 scaffold protein 7 gene DOID:630 genetic disease ISO RGD:1344792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12293396 E2F3 E2F transcription factor 3 gene DOID:10283 prostate cancer ISO RGD:1320122 D RGD:9068941 20200609 RGD PMID:17701752|PMID:25017995|REF_RGD_ID:13504717|REF_RGD_ID:13504729 12293396 E2F3 E2F transcription factor 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:1320122 D RGD:9068941 20200609 RGD PMID:15184867|REF_RGD_ID:13504730 12293396 E2F3 E2F transcription factor 3 gene DOID:3070 high grade glioma disease_progression ISO RGD:1320122 D RGD:9068941 20200609 RGD PMID:28337965|REF_RGD_ID:13702470 12293396 E2F3 E2F transcription factor 3 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1320122 D RGD:9068941 20200609 RGD PMID:16938365|REF_RGD_ID:13464341 12293396 E2F3 E2F transcription factor 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1320122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 12293396 E2F3 E2F transcription factor 3 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1320122 D RGD:9068941 20200609 RGD DNA:SNP: :rs3806116 (human) PMID:27557513|REF_RGD_ID:13464345 12293396 E2F3 E2F transcription factor 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1320122 D RGD:9068941 20200609 RGD PMID:16938365|REF_RGD_ID:13464341 12293396 E2F3 E2F transcription factor 3 gene DOID:630 genetic disease ISO RGD:1320122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12293409 CARMIL1 capping protein regulator and myosin 1 linker 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1315346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 12293409 CARMIL1 capping protein regulator and myosin 1 linker 1 gene DOID:630 genetic disease ISO RGD:1315346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12293462 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:0060870 isolated growth hormone deficiency ISO RGD:68640 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:11248743|REF_RGD_ID:12910859 12293462 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:0080325 tuberous sclerosis 2 ISO RGD:68640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 12293462 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:68640 D RGD:9068941 20200609 RGD PMID:19207313|REF_RGD_ID:12910858 12293462 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:68640 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12293462 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:1184 nephrotic syndrome ISO RGD:68640 D RGD:9068941 20200609 RGD PMID:11248742|REF_RGD_ID:12910863 12293462 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:1826 epilepsy ISO RGD:68640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12293462 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:1827 idiopathic generalized epilepsy ISO RGD:68640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12293462 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:3490 Noonan syndrome ISO RGD:68640 D RGD:9068941 20200609 RGD PMID:16263833|REF_RGD_ID:11063837 12293462 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:630 genetic disease ISO RGD:68640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12293462 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:684 hepatocellular carcinoma ISO RGD:68640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12293462 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:8689 anorexia nervosa ISO RGD:68640 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:11248743|REF_RGD_ID:12910859 12293462 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:9000528 Coronary Disease ISO RGD:68640 D RGD:9068941 20200609 RGD PMID:15521962|REF_RGD_ID:1626121 12293462 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:9001239 Delayed Puberty ISO RGD:68640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14762184|PMID:17726072 12293462 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12293462 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:68640 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21636299|REF_RGD_ID:12910854 12293462 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:9005930 Endotoxemia ISO RGD:68429 D RGD:9068941 20200609 RGD PMID:12217886|REF_RGD_ID:625688 12293462 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:9006257 Growth Disorders ISO RGD:68640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14762184|PMID:17726072 12293462 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:9007303 Idiopathic Short Stature, Autosomal ISO RGD:68640 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.L127P (c.380T>C) (human) PMID:23488611|REF_RGD_ID:12910853 12293462 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:9007692 Insulin Resistance ISO RGD:68640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17726072 12293462 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:9007730 Burns ISO RGD:68429 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:10827012|REF_RGD_ID:12910869 12293462 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:9008272 Acid-Labile Subunit Deficiency ISO RGD:68640 D RGD:7240710 20180130 OMIM 12293462 IGFALS insulin like growth factor binding protein acid labile subunit gene DOID:9008272 Acid-Labile Subunit Deficiency ISO RGD:68640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature due to primary acid-labile subunit deficiency PMID:14762184|PMID:17726072|PMID:18303074|PMID:20591980|PMID:22678306|PMID:22991227|PMID:23488611|PMID:24335034|PMID:25741868|PMID:26418010|PMID:27018247|PMID:28492532 12293468 UNCX UNC homeobox gene DOID:630 genetic disease ISO RGD:1626690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12293475 IL1RAPL2 interleukin 1 receptor accessory protein like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12293475 IL1RAPL2 interleukin 1 receptor accessory protein like 2 gene DOID:12849 autistic disorder ISO RGD:1349606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12293475 IL1RAPL2 interleukin 1 receptor accessory protein like 2 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1349606 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:1720927|PMID:9633722|PMID:9634530 12293475 IL1RAPL2 interleukin 1 receptor accessory protein like 2 gene DOID:630 genetic disease ISO RGD:1349606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12293492 ECHDC1 ethylmalonyl-CoA decarboxylase 1 gene DOID:0080154 short chain acyl-CoA dehydrogenase deficiency ISO RGD:1346197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase PMID:25741868 12293492 ECHDC1 ethylmalonyl-CoA decarboxylase 1 gene DOID:1909 melanoma ISO RGD:1346197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12293492 ECHDC1 ethylmalonyl-CoA decarboxylase 1 gene DOID:630 genetic disease ISO RGD:1346197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12293492 ECHDC1 ethylmalonyl-CoA decarboxylase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12293508 TMPRSS13 transmembrane serine protease 13 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12293508 TMPRSS13 transmembrane serine protease 13 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12293508 TMPRSS13 transmembrane serine protease 13 gene DOID:0080690 RASopathy ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12293508 TMPRSS13 transmembrane serine protease 13 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12293508 TMPRSS13 transmembrane serine protease 13 gene DOID:0111123 nephronophthisis 15 ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 12293508 TMPRSS13 transmembrane serine protease 13 gene DOID:0111971 immunodeficiency 18 ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12293508 TMPRSS13 transmembrane serine protease 13 gene DOID:0111972 immunodeficiency 19 ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12293508 TMPRSS13 transmembrane serine protease 13 gene DOID:0111973 immunodeficiency 17 ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12293508 TMPRSS13 transmembrane serine protease 13 gene DOID:1059 intellectual disability ISO RGD:1604778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12293508 TMPRSS13 transmembrane serine protease 13 gene DOID:630 genetic disease ISO RGD:1604778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12293508 TMPRSS13 transmembrane serine protease 13 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12293508 TMPRSS13 transmembrane serine protease 13 gene DOID:9007661 Dwarfism ISO RGD:1604778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12293530 STK32B serine/threonine kinase 32B gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1314640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12293530 STK32B serine/threonine kinase 32B gene DOID:2843 long QT syndrome ISO RGD:1314640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12293530 STK32B serine/threonine kinase 32B gene DOID:630 genetic disease ISO RGD:1314640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12293530 STK32B serine/threonine kinase 32B gene DOID:6678 tooth and nail syndrome ISO RGD:1314640 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 12293546 MPG N-methylpurine DNA glycosylase gene DOID:630 genetic disease ISO RGD:731894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12293562 TMEM72 transmembrane protein 72 gene DOID:630 genetic disease ISO RGD:1354072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12293592 BZW2 basic leucine zipper and W2 domains 2 gene DOID:0080600 COVID-19 ISO RGD:731291 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12293592 BZW2 basic leucine zipper and W2 domains 2 gene DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 ISO RGD:731291 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 PMID:23288328|PMID:28492532 12293592 BZW2 basic leucine zipper and W2 domains 2 gene DOID:3910 lung adenocarcinoma ISO RGD:731291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12293592 BZW2 basic leucine zipper and W2 domains 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12293592 BZW2 basic leucine zipper and W2 domains 2 gene DOID:630 genetic disease ISO RGD:731291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12293592 BZW2 basic leucine zipper and W2 domains 2 gene DOID:9006205 Animal Disease Models ISO RGD:731291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12293664 TTYH2 tweety family member 2 gene DOID:630 genetic disease ISO RGD:1354269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12293696 MITF melanocyte inducing transcription factor gene DOID:0050563 nonsyndromic deafness ISO RGD:735982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:25741868|PMID:28492532|PMID:28690485|PMID:30311386|PMID:31898538 12293696 MITF melanocyte inducing transcription factor gene DOID:0050632 oculocutaneous albinism ISO RGD:735982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9158138 12293696 MITF melanocyte inducing transcription factor gene DOID:0090002 Tietz syndrome ISO RGD:735982 D RGD:7240710 20230517 OMIM 12293696 MITF melanocyte inducing transcription factor gene DOID:0090002 Tietz syndrome ISO RGD:735982 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tietz syndrome PMID:10587587|PMID:10851256|PMID:13985019|PMID:16199547|PMID:17318840|PMID:17576681|PMID:20127975|PMID:21373256|PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24194866|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26850479|PMID:26999813|PMID:27153395|PMID:27349893|PMID:27473757|PMID:27680874|PMID:27759048|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29115496|PMID:29484430|PMID:29506128|PMID:29625052|PMID:29706638|PMID:30117279|PMID:30414346|PMID:30549420|PMID:30936914|PMID:31213145|PMID:31427586|PMID:31465090|PMID:31898538|PMID:32054529|PMID:32728090|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886|PMID:35802133|PMID:36633841|PMID:8589691|PMID:8659547|PMID:9536098 12293696 MITF melanocyte inducing transcription factor gene DOID:0090100 ocular albinism with sensorineural deafness ISO RGD:735983 D RGD:9068941 20220825 MouseDO OMIM:103470 12293696 MITF melanocyte inducing transcription factor gene DOID:0110948 Waardenburg syndrome type 1 ISO RGD:735982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 1 PMID:25741868 12293696 MITF melanocyte inducing transcription factor gene DOID:0110950 Waardenburg syndrome type 2A ISO RGD:735982 D RGD:7240710 20230517 OMIM 12293696 MITF melanocyte inducing transcription factor gene DOID:0110950 Waardenburg syndrome type 2A ISO RGD:735982 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2A PMID:10587587|PMID:10851256|PMID:15284851|PMID:17576681|PMID:20127975|PMID:21373256|PMID:21438779|PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:27759048|PMID:27889061|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28690485|PMID:28825054|PMID:29115496|PMID:29407415|PMID:29506128|PMID:29625052|PMID:29706638|PMID:30117279|PMID:30311386|PMID:30414346|PMID:30549420|PMID:31213145|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34599368|PMID:34662886|PMID:35802133|PMID:36633841|PMID:666627|PMID:7874167|PMID:8589691|PMID:8659547|PMID:9158138|PMID:9536098|PMID:9856573 12293696 MITF melanocyte inducing transcription factor gene DOID:0110956 Waardenburg syndrome type 2E ISO RGD:735982 D RGD:9068941 20220714 CTD CTD Direct Evidence: marker/mechanism PMID:9158138 12293696 MITF melanocyte inducing transcription factor gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:735982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 12293696 MITF melanocyte inducing transcription factor gene DOID:10003 sensorineural hearing loss ISO RGD:735982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment PMID:25741868|PMID:29407415 12293696 MITF melanocyte inducing transcription factor gene DOID:10123 pigmentation disease ISO RGD:735982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9158138 12293696 MITF melanocyte inducing transcription factor gene DOID:1059 intellectual disability ISO RGD:735982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10851256|PMID:25741868|PMID:28492532 12293696 MITF melanocyte inducing transcription factor gene DOID:13533 osteopetrosis ISO RGD:735983 D RGD:9068941 20220825 MouseDO 12293696 MITF melanocyte inducing transcription factor gene DOID:14021 Tietze's syndrome ISO RGD:735982 D RGD:9068941 20200609 RGD PMID:10851256|REF_RGD_ID:1599943 12293696 MITF melanocyte inducing transcription factor gene DOID:1909 melanoma ISO RGD:735982 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Melanoma PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886 12293696 MITF melanocyte inducing transcription factor gene DOID:1909 melanoma ISO RGD:735982 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Melanoma PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886 12293696 MITF melanocyte inducing transcription factor gene DOID:4450 renal cell carcinoma ISO RGD:735982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22012259 12293696 MITF melanocyte inducing transcription factor gene DOID:4997 Camurati-Engelmann disease ISO RGD:735983 D RGD:9068941 20220825 MouseDO OMIM:131300 | OMIM:606631 12293696 MITF melanocyte inducing transcription factor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12293696 MITF melanocyte inducing transcription factor gene DOID:630 genetic disease ISO RGD:735982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12293696 MITF melanocyte inducing transcription factor gene DOID:6846 familial melanoma ISO RGD:735982 D RGD:7240710 20230517 OMIM 12293696 MITF melanocyte inducing transcription factor gene DOID:6846 familial melanoma ISO RGD:735982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28376192|PMID:28492532|PMID:29706638|PMID:30414346 12293696 MITF melanocyte inducing transcription factor gene DOID:6846 familial melanoma ISO RGD:735982 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886 12293696 MITF melanocyte inducing transcription factor gene DOID:8923 skin melanoma ISO RGD:735982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22080950 12293696 MITF melanocyte inducing transcription factor gene DOID:9000714 COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS ISO RGD:735982 D RGD:7240710 20230517 OMIM 12293696 MITF melanocyte inducing transcription factor gene DOID:9000714 COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS ISO RGD:735982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness PMID:27889061|PMID:30311386|PMID:34599368 12293696 MITF melanocyte inducing transcription factor gene DOID:9002843 Waardenburg Syndrome Type 2 ISO RGD:735982 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2 PMID:17576681|PMID:21373256|PMID:28492532|PMID:30117279|PMID:35802133|PMID:36633841|PMID:9536098 12293696 MITF melanocyte inducing transcription factor gene DOID:9004538 Hearing Loss ISO RGD:735982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:8659547|PMID:9856573 12293696 MITF melanocyte inducing transcription factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735982 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33240314 12293696 MITF melanocyte inducing transcription factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735982 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886 12293696 MITF melanocyte inducing transcription factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735982 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886 12293696 MITF melanocyte inducing transcription factor gene DOID:9007388 Heterochromia Iridis ISO RGD:735982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterochromia iridis PMID:25741868|PMID:8659547|PMID:9856573 12293696 MITF melanocyte inducing transcription factor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:735982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 12293696 MITF melanocyte inducing transcription factor gene DOID:9008681 Deafness ISO RGD:735982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9158138 12293696 MITF melanocyte inducing transcription factor gene DOID:9258 Waardenburg's syndrome ISO RGD:735982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome PMID:25741868|PMID:30311386 12293724 RHEB Ras homolog, mTORC1 binding gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1353122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 12293724 RHEB Ras homolog, mTORC1 binding gene DOID:1826 epilepsy ISO RGD:1353122 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12293724 RHEB Ras homolog, mTORC1 binding gene DOID:2671 transitional cell carcinoma ISO RGD:1353122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011 12293724 RHEB Ras homolog, mTORC1 binding gene DOID:2843 long QT syndrome ISO RGD:1353122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 12293724 RHEB Ras homolog, mTORC1 binding gene DOID:363 uterine cancer ISO RGD:1353122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26619011 12293724 RHEB Ras homolog, mTORC1 binding gene DOID:3908 lung non-small cell carcinoma ISO RGD:1353122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20554106 12293724 RHEB Ras homolog, mTORC1 binding gene DOID:4450 renal cell carcinoma ISO RGD:1353122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:26619011 12293724 RHEB Ras homolog, mTORC1 binding gene DOID:4465 papillary renal cell carcinoma ISO RGD:1353122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:26619011 12293724 RHEB Ras homolog, mTORC1 binding gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1353122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:26619011 12293724 RHEB Ras homolog, mTORC1 binding gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:1353122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:26619011 12293724 RHEB Ras homolog, mTORC1 binding gene DOID:9008237 Hemimegalencephaly ISO RGD:1353122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hemimegalencephaly PMID:30414531 12293737 AQR aquarius intron-binding spliceosomal factor gene DOID:2717 Bloom syndrome ISO RGD:1314717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12293737 AQR aquarius intron-binding spliceosomal factor gene DOID:630 genetic disease ISO RGD:1314717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12293737 AQR aquarius intron-binding spliceosomal factor gene DOID:9256 colorectal cancer ISO RGD:1314717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12293776 TTC33 tetratricopeptide repeat domain 33 gene DOID:630 genetic disease ISO RGD:1606815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12293776 TTC33 tetratricopeptide repeat domain 33 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12293793 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1345273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12293793 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12293793 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1345273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 12293793 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1345273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12293793 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1345273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12293793 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0112034 non-syndromic X-linked intellectual disability 9 ISO RGD:1345273 D RGD:7240710 20180130 OMIM 12293793 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0112034 non-syndromic X-linked intellectual disability 9 ISO RGD:1345273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 9 PMID:10398246|PMID:15162322|PMID:15342698|PMID:25741868|PMID:8288232 12293793 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1345273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12293793 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1345273 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12293793 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:1345273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12293793 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1345273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12293793 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1345273 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12293829 HDHD3 haloacid dehalogenase like hydrolase domain containing 3 gene DOID:630 genetic disease ISO RGD:1351910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12293835 THEMIS thymocyte selection associated gene DOID:0050589 inflammatory bowel disease ISO RGD:1560849 D RGD:9068941 20200917 RGD DNA:frameshift mutation: PMID:22275874|REF_RGD_ID:38599149 12293835 THEMIS thymocyte selection associated gene DOID:10608 celiac disease ISO RGD:1603481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 12293835 THEMIS thymocyte selection associated gene DOID:630 genetic disease ISO RGD:1603481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12293835 THEMIS thymocyte selection associated gene DOID:9008671 T-Lymphocytopenia ISO RGD:1560849 D RGD:9068941 20200917 RGD DNA:frameshift mutation: PMID:22275874|REF_RGD_ID:38599149 12293851 PMEPA1 prostate transmembrane protein, androgen induced 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1317924 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:32215045 12293851 PMEPA1 prostate transmembrane protein, androgen induced 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1317924 D RGD:9068941 20200609 RGD PMID:12907594|REF_RGD_ID:2315107 12293851 PMEPA1 prostate transmembrane protein, androgen induced 1 gene DOID:1612 breast cancer ISO RGD:1317924 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:14639658|REF_RGD_ID:2315106 12293851 PMEPA1 prostate transmembrane protein, androgen induced 1 gene DOID:1984 rectal benign neoplasm ISO RGD:1317924 D RGD:9068941 20200609 RGD mRNA:increased expression:rectum PMID:11568975|REF_RGD_ID:2315108 12293851 PMEPA1 prostate transmembrane protein, androgen induced 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:1317924 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach PMID:11568975|REF_RGD_ID:2315108 12293851 PMEPA1 prostate transmembrane protein, androgen induced 1 gene DOID:4450 renal cell carcinoma ISO RGD:1317924 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:11568975|REF_RGD_ID:2315108 12293851 PMEPA1 prostate transmembrane protein, androgen induced 1 gene DOID:630 genetic disease ISO RGD:1317924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12293851 PMEPA1 prostate transmembrane protein, androgen induced 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317924 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12293880 REXO4 REX4 homolog, 3'-5' exonuclease gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1314713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12293880 REXO4 REX4 homolog, 3'-5' exonuclease gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1314713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12293880 REXO4 REX4 homolog, 3'-5' exonuclease gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1314713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12293880 REXO4 REX4 homolog, 3'-5' exonuclease gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1314713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12293880 REXO4 REX4 homolog, 3'-5' exonuclease gene DOID:0081097 Rafiq syndrome ISO RGD:1314713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12293880 REXO4 REX4 homolog, 3'-5' exonuclease gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1314713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12293880 REXO4 REX4 homolog, 3'-5' exonuclease gene DOID:3652 Leigh disease ISO RGD:1314713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12293880 REXO4 REX4 homolog, 3'-5' exonuclease gene DOID:630 genetic disease ISO RGD:1314713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12293880 REXO4 REX4 homolog, 3'-5' exonuclease gene DOID:9007479 Habitual Abortions ISO RGD:1314713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion 12293892 RPL4 ribosomal protein L4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:732803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12293892 RPL4 ribosomal protein L4 gene DOID:2717 Bloom syndrome ISO RGD:732803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12293892 RPL4 ribosomal protein L4 gene DOID:630 genetic disease ISO RGD:732803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12293892 RPL4 ribosomal protein L4 gene DOID:9002189 High Myopia ISO RGD:732803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12293892 RPL4 ribosomal protein L4 gene DOID:9004484 Sepsis ISO RGD:732803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27978524 12293892 RPL4 ribosomal protein L4 gene DOID:9256 colorectal cancer ISO RGD:732803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12293906 OACYL O-acyltransferase like gene DOID:9005539 Familial Prostate Cancer ISO RGD:6901233 D RGD:9068941 20201203 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12293925 SAXO5 stabilizer of axonemal microtubules 5 gene DOID:0080490 mucolipidosis type IV ISO RGD:1602810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12293925 SAXO5 stabilizer of axonemal microtubules 5 gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1602810 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 PMID:28492532 12294000 OR4F26P olfactory receptor family 4 subfamily F member 26, pseudogene gene DOID:630 genetic disease ISO RGD:1346395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294015 MIR223 microRNA mir-223 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12294015 MIR223 microRNA mir-223 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1342661 D RGD:9068941 20200609 RGD RNA:increased expression:liver: PMID:30964207|REF_RGD_ID:21408549 12294015 MIR223 microRNA mir-223 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1608237 D RGD:9068941 20200609 RGD PMID:30964207|REF_RGD_ID:21408549 12294015 MIR223 microRNA mir-223 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:1608237 D RGD:9068941 20200609 RGD PMID:31585800|REF_RGD_ID:21408547 12294015 MIR223 microRNA mir-223 gene DOID:10230 aortic atherosclerosis ISO RGD:1608237 D RGD:9068941 20200609 RGD RNA:increased expression:serum,aorta PMID:26065992|REF_RGD_ID:25824846 12294015 MIR223 microRNA mir-223 gene DOID:10534 stomach cancer ISO RGD:1342661 D RGD:9068941 20210430 RGD associated with Helicobacter Infections; mRNA:increased expression:stomach (human) PMID:29317648|REF_RGD_ID:126781705 12294015 MIR223 microRNA mir-223 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1342661 D RGD:9068941 20200609 RGD RNA:increased expression:Bronchoalveolar lavage PMID:28931657|REF_RGD_ID:21408568 12294015 MIR223 microRNA mir-223 gene DOID:12236 primary biliary cholangitis severity ISO RGD:1342661 D RGD:9068941 20200609 RGD PMID:28886078|REF_RGD_ID:21408577 12294015 MIR223 microRNA mir-223 gene DOID:12849 autistic disorder ISO RGD:1342661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12294015 MIR223 microRNA mir-223 gene DOID:13976 peptic esophagitis ISO RGD:2325543 D RGD:9068941 20200609 RGD RNA:increased expression: esophagus PMID:28757556|REF_RGD_ID:25824949 12294015 MIR223 microRNA mir-223 gene DOID:1936 atherosclerosis ISO RGD:1342661 D RGD:9068941 20200609 RGD RNA:increased expression:serum,artery PMID:26065992|REF_RGD_ID:25824846 12294015 MIR223 microRNA mir-223 gene DOID:2048 autoimmune hepatitis ISO RGD:1608237 D RGD:9068941 20200609 RGD PMID:31826604|REF_RGD_ID:21408546 12294015 MIR223 microRNA mir-223 gene DOID:2048 autoimmune hepatitis treatment ISO RGD:1608237 D RGD:9068941 20200609 RGD PMID:29145157|REF_RGD_ID:21408563 12294015 MIR223 microRNA mir-223 gene DOID:224 transient cerebral ischemia ISO RGD:2325543 D RGD:9068941 20200609 RGD PMID:31237865|REF_RGD_ID:25824937 12294015 MIR223 microRNA mir-223 gene DOID:2316 brain ischemia treatment ISO RGD:2325543 D RGD:9068941 20200609 RGD PMID:31791013|REF_RGD_ID:26884340 12294015 MIR223 microRNA mir-223 gene DOID:3393 coronary artery disease treatment ISO RGD:1342661 D RGD:9068941 20200609 RGD PMID:25350775|REF_RGD_ID:11076984 12294015 MIR223 microRNA mir-223 gene DOID:3454 brain infarction ISO RGD:2325543 D RGD:9068941 20200609 RGD RNA:increased expression:brain,blood PMID:31342956|REF_RGD_ID:25824952 12294015 MIR223 microRNA mir-223 gene DOID:3526 cerebral infarction treatment ISO RGD:2325543 D RGD:9068941 20200709 RGD PMID:28469772|REF_RGD_ID:35668865 12294015 MIR223 microRNA mir-223 gene DOID:3770 pulmonary fibrosis disease_progression ISO RGD:2325543 D RGD:9068941 20200609 RGD PMID:32329871|REF_RGD_ID:25824948 12294015 MIR223 microRNA mir-223 gene DOID:3875 thrombophlebitis ISO RGD:2325543 D RGD:9068941 20200609 RGD PMID:32141571|REF_RGD_ID:26884338 12294015 MIR223 microRNA mir-223 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1342661 D RGD:9068941 20200609 RGD PMID:29615147|REF_RGD_ID:21408562 12294015 MIR223 microRNA mir-223 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1342661 D RGD:9068941 20200609 RGD PMID:29615147|REF_RGD_ID:21408562 12294015 MIR223 microRNA mir-223 gene DOID:5082 liver cirrhosis ISO RGD:1342661 D RGD:9068941 20200609 RGD RNA:altered expression:serum,liver PMID:28646120|REF_RGD_ID:21408574 12294015 MIR223 microRNA mir-223 gene DOID:5082 liver cirrhosis ISO RGD:1342661 D RGD:9068941 20200609 RGD associated with Chronic Hepatitis B; RNA:decreased expression:serum: PMID:24595450|REF_RGD_ID:21408583 12294015 MIR223 microRNA mir-223 gene DOID:5082 liver cirrhosis ISO RGD:1342661 D RGD:9068941 20200609 RGD associated with Chronic HepatitisC; RNA:decreased expression:serum: PMID:25391771|REF_RGD_ID:21408580 12294015 MIR223 microRNA mir-223 gene DOID:5082 liver cirrhosis severity ISO RGD:1342661 D RGD:9068941 20200609 RGD associated with Chronic Hepatitis C; PMID:28211229|REF_RGD_ID:21408569 12294015 MIR223 microRNA mir-223 gene DOID:5844 myocardial infarction ISO RGD:2325543 D RGD:9068941 20200609 RGD RNA:increased expression:heart PMID:29608885|REF_RGD_ID:21408565 12294015 MIR223 microRNA mir-223 gene DOID:6432 pulmonary hypertension ISO RGD:1342661 D RGD:9068941 20200609 RGD RNA:decreased expression:lung, pulmonary aorta, pulmonary aorta smooth muscle PMID:26084306|REF_RGD_ID:25824847 12294015 MIR223 microRNA mir-223 gene DOID:6432 pulmonary hypertension treatment ISO RGD:2325543 D RGD:9068941 20200609 RGD PMID:26084306|PMID:30507047|REF_RGD_ID:25824847|REF_RGD_ID:25824849 12294015 MIR223 microRNA mir-223 gene DOID:6432 pulmonary hypertension treatment ISO RGD:2325543 D RGD:9068941 20200609 RGD Chronic Intermittent Hypoxia PMID:30246291|REF_RGD_ID:25823198 12294015 MIR223 microRNA mir-223 gene DOID:684 hepatocellular carcinoma ISO RGD:1342661 D RGD:9068941 20200609 RGD RNA:increased expression:serum: PMID:21229610|REF_RGD_ID:21408591 12294015 MIR223 microRNA mir-223 gene DOID:684 hepatocellular carcinoma ISO RGD:1342661 D RGD:9068941 20200609 RGD associated with Chronic Hepatitis B; RNA:decreased expression:serum: PMID:24595450|REF_RGD_ID:21408583 12294015 MIR223 microRNA mir-223 gene DOID:684 hepatocellular carcinoma ISO RGD:1342661 D RGD:9068941 20200609 RGD associated with Chronic HepatitisC; RNA:decreased expression:serum: PMID:25391771|REF_RGD_ID:21408580 12294015 MIR223 microRNA mir-223 gene DOID:684 hepatocellular carcinoma ISO RGD:1608237 D RGD:9068941 20200609 RGD associated with high-fat diet, PMID:30964207|REF_RGD_ID:21408549 12294015 MIR223 microRNA mir-223 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1342661 D RGD:9068941 20200609 RGD PMID:28982915|REF_RGD_ID:21408578 12294015 MIR223 microRNA mir-223 gene DOID:9000169 Systemic Inflammatory Response Syndrome ISO RGD:1342661 D RGD:9068941 20200609 RGD RNA:increased expression:plasma: PMID:24680405|REF_RGD_ID:21408586 12294015 MIR223 microRNA mir-223 gene DOID:9000808 Hypercholesterolemia ISO RGD:1608237 D RGD:9068941 20200609 RGD PMID:25246565|REF_RGD_ID:21408582 12294015 MIR223 microRNA mir-223 gene DOID:9001285 Alcoholic Liver Diseases severity ISO RGD:1608237 D RGD:9068941 20200609 RGD PMID:27679493|REF_RGD_ID:21408575 12294015 MIR223 microRNA mir-223 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1608237 D RGD:9068941 20200609 RGD PMID:31295147|REF_RGD_ID:21408548 12294015 MIR223 microRNA mir-223 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1608237 D RGD:9068941 20200609 RGD RNA:increased expression:liver PMID:32003753|REF_RGD_ID:21408545 12294015 MIR223 microRNA mir-223 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1608237 D RGD:9068941 20200609 RGD RNA:increased expression:serum,liver PMID:28646120|REF_RGD_ID:21408574 12294015 MIR223 microRNA mir-223 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:1608237 D RGD:9068941 20200609 RGD RNA:increased expression:liver PMID:19104939|REF_RGD_ID:13831297 12294015 MIR223 microRNA mir-223 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:1608237 D RGD:9068941 20200609 RGD RNA:increased expression:serum,liver PMID:28646120|REF_RGD_ID:21408574 12294015 MIR223 microRNA mir-223 gene DOID:9002331 Knee Osteoarthritis ISO RGD:2325543 D RGD:9068941 20200609 RGD RNA:increased expression:synovial membrane PMID:30106113|REF_RGD_ID:25824950 12294015 MIR223 microRNA mir-223 gene DOID:9002433 Schistosomiasis Japonica ISO RGD:1342661 D RGD:9068941 20200609 RGD RNA:increased expression:plasma: PMID:24330517|REF_RGD_ID:21408589 12294015 MIR223 microRNA mir-223 gene DOID:9002433 Schistosomiasis Japonica treatment ISO RGD:1608237 D RGD:9068941 20200609 RGD PMID:24330517|REF_RGD_ID:21408589 12294015 MIR223 microRNA mir-223 gene DOID:9002928 Colonic Neoplasms ISO RGD:1342661 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29660302 12294015 MIR223 microRNA mir-223 gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:2325543 D RGD:9068941 20200609 RGD associated with acute myocardial infarction; PMID:29689569|REF_RGD_ID:25823140 12294015 MIR223 microRNA mir-223 gene DOID:9003936 Cardiomegaly ISO RGD:1608237 D RGD:9068941 20230427 RGD PMID:27226563|REF_RGD_ID:329322878 12294015 MIR223 microRNA mir-223 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1342661 D RGD:9068941 20200609 RGD PMID:28864162|REF_RGD_ID:21408567 12294015 MIR223 microRNA mir-223 gene DOID:9004484 Sepsis ISO RGD:1342661 D RGD:9068941 20200609 RGD RNA:increased expression:plasma: PMID:24680405|REF_RGD_ID:21408586 12294015 MIR223 microRNA mir-223 gene DOID:9004590 Acute Liver Failure ISO RGD:1342661 D RGD:9068941 20200609 RGD RNA:increased expression:serum,liver PMID:28646120|REF_RGD_ID:21408574 12294015 MIR223 microRNA mir-223 gene DOID:9004590 Acute Liver Failure disease_progression ISO RGD:1608237 D RGD:9068941 20200609 RGD PMID:25562161|REF_RGD_ID:21408585 12294015 MIR223 microRNA mir-223 gene DOID:9004610 Acute Lung Injury severity ISO RGD:1608237 D RGD:9068941 20200609 RGD PMID:28931657|REF_RGD_ID:21408568 12294015 MIR223 microRNA mir-223 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2325543 D RGD:9068941 20200609 RGD PMID:32226458|REF_RGD_ID:26884341 12294015 MIR223 microRNA mir-223 gene DOID:9005968 Neuralgia treatment ISO RGD:2325543 D RGD:9068941 20200609 RGD PMID:28580822|REF_RGD_ID:25824768 12294015 MIR223 microRNA mir-223 gene DOID:9006086 Intervertebral Disc Displacement disease_progression ISO RGD:1342661 D RGD:9068941 20200609 RGD PMID:28460630|REF_RGD_ID:25823200 12294015 MIR223 microRNA mir-223 gene DOID:9006182 Carotid Artery Injuries ISO RGD:2325543 D RGD:9068941 20200609 RGD RNA:increased expression:carotid artery PMID:26065992|REF_RGD_ID:25824846 12294015 MIR223 microRNA mir-223 gene DOID:9006302 Binge Drinking ISO RGD:1342661 D RGD:9068941 20200609 RGD RNA:increased expression:serum PMID:27679493|REF_RGD_ID:21408575 12294015 MIR223 microRNA mir-223 gene DOID:9006302 Binge Drinking ISO RGD:1608237 D RGD:9068941 20200609 RGD RNA:increased expression:serum, neutrophil,liver PMID:27679493|REF_RGD_ID:21408575 12294015 MIR223 microRNA mir-223 gene DOID:9006618 Liver Metastasis disease_progression ISO RGD:1342661 D RGD:9068941 20200609 RGD associated with colorectal cancer; PMID:28846828|REF_RGD_ID:21408566 12294015 MIR223 microRNA mir-223 gene DOID:9006741 Acute Hepatitis treatment ISO RGD:1608237 D RGD:9068941 20200609 RGD PMID:31585800|REF_RGD_ID:21408547 12294015 MIR223 microRNA mir-223 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1608237 D RGD:9068941 20200609 RGD RNA:increased expression:serum,liver PMID:28646120|REF_RGD_ID:21408574 12294015 MIR223 microRNA mir-223 gene DOID:9007956 Febrile Seizures ISO RGD:2325543 D RGD:9068941 20200609 RGD RNA:decreased expression:hippocampus: PMID:30947016|REF_RGD_ID:25823138 12294015 MIR223 microRNA mir-223 gene DOID:9007956 Febrile Seizures treatment ISO RGD:2325543 D RGD:9068941 20200609 RGD PMID:30947016|REF_RGD_ID:25823138 12294015 MIR223 microRNA mir-223 gene DOID:9007980 Sleep Deprivation ISO RGD:2325543 D RGD:9068941 20200609 RGD PMID:30225174|REF_RGD_ID:25824951 12294015 MIR223 microRNA mir-223 gene DOID:9008691 Liver Injury treatment ISO RGD:1608237 D RGD:9068941 20200609 RGD PMID:26598234|REF_RGD_ID:11056368 12294015 MIR223 microRNA mir-223 gene DOID:9206 Barrett's esophagus disease_progression ISO RGD:1342661 D RGD:9068941 20200609 RGD PMID:23757351|REF_RGD_ID:21408587 12294015 MIR223 microRNA mir-223 gene DOID:9256 colorectal cancer ISO RGD:1342661 D RGD:9068941 20220721 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12294015 MIR223 microRNA mir-223 gene DOID:9351 diabetes mellitus ISO RGD:1342661 D RGD:9068941 20200609 RGD RNA:decreased expression:blood mononuclear cell PMID:26717922|REF_RGD_ID:14398486 12294015 MIR223 microRNA mir-223 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1342661 D RGD:9068941 20200609 RGD RNA:increased expression:pancreatic islet PMID:31118273|REF_RGD_ID:25823139 12294015 MIR223 microRNA mir-223 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1608237 D RGD:9068941 20200609 RGD RNA:increased expression:pancreatic islet PMID:31118273|REF_RGD_ID:25823139 12294015 MIR223 microRNA mir-223 gene DOID:9352 type 2 diabetes mellitus severity ISO RGD:1608237 D RGD:9068941 20200609 RGD PMID:31118273|REF_RGD_ID:25823139 12294015 MIR223 microRNA mir-223 gene DOID:9408 acute myocardial infarction treatment ISO RGD:2325543 D RGD:9068941 20200609 RGD PMID:29689569|REF_RGD_ID:25823140 12294015 MIR223 microRNA mir-223 gene DOID:9970 obesity ISO RGD:1342661 D RGD:9068941 20200609 RGD RNA:increased expression:pancreatic islet PMID:31118273|REF_RGD_ID:25823139 12294015 MIR223 microRNA mir-223 gene DOID:9970 obesity ISO RGD:1608237 D RGD:9068941 20200609 RGD RNA:increased expression:pancreatic islet PMID:31118273|REF_RGD_ID:25823139 12294075 P4HA2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1320142 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12294075 P4HA2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1320142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:20574985|PMID:28492532 12294075 P4HA2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:5419 schizophrenia ISO RGD:1320142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12294075 P4HA2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1320142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294075 P4HA2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:9000065 Myopia 25, Autosomal Dominant ISO RGD:1320142 D RGD:7240710 20190315 OMIM 12294075 P4HA2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:9000065 Myopia 25, Autosomal Dominant ISO RGD:1320142 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopia 25, autosomal dominant PMID:25741866|PMID:25741868|PMID:28492532 12294075 P4HA2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12294075 P4HA2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320142 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12294108 TBPL1 TATA-box binding protein like 1 gene DOID:630 genetic disease ISO RGD:1315592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294125 TAMM41 TAM41 mitochondrial translocator assembly and maintenance homolog gene DOID:630 genetic disease ISO RGD:1602301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294125 TAMM41 TAM41 mitochondrial translocator assembly and maintenance homolog gene DOID:9000123 Deglutition Disorders ISO RGD:1602301 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dysphagia PMID:35321494 12294125 TAMM41 TAM41 mitochondrial translocator assembly and maintenance homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12294125 TAMM41 TAM41 mitochondrial translocator assembly and maintenance homolog gene DOID:9005603 Muscle Hypotonia ISO RGD:1602301 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:35321494 12294125 TAMM41 TAM41 mitochondrial translocator assembly and maintenance homolog gene DOID:9009069 Combined Oxidative Phosphorylation Deficiency 56 ISO RGD:1602301 D RGD:7240710 20221214 OMIM 12294125 TAMM41 TAM41 mitochondrial translocator assembly and maintenance homolog gene DOID:9009069 Combined Oxidative Phosphorylation Deficiency 56 ISO RGD:1602301 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 56 PMID:35321494 12294144 CNTN3 contactin 3 gene DOID:12849 autistic disorder ISO RGD:732842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18621663 12294144 CNTN3 contactin 3 gene DOID:3042 allergic contact dermatitis ISO RGD:732842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17597826 12294144 CNTN3 contactin 3 gene DOID:630 genetic disease ISO RGD:732842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294176 FAT3 FAT atypical cadherin 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1351260 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 12294176 FAT3 FAT atypical cadherin 3 gene DOID:1059 intellectual disability ISO RGD:1351260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12294176 FAT3 FAT atypical cadherin 3 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1351260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 12294176 FAT3 FAT atypical cadherin 3 gene DOID:630 genetic disease ISO RGD:1351260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294176 FAT3 FAT atypical cadherin 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1351260 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay 12294215 ULK4 unc-51 like kinase 4 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1346964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 12294215 ULK4 unc-51 like kinase 4 gene DOID:1059 intellectual disability ISO RGD:1346964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, moderate 12294215 ULK4 unc-51 like kinase 4 gene DOID:10908 hydrocephalus ISO RGD:1608439 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 12294215 ULK4 unc-51 like kinase 4 gene DOID:5419 schizophrenia ISO RGD:1346964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12294215 ULK4 unc-51 like kinase 4 gene DOID:630 genetic disease ISO RGD:1346964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294215 ULK4 unc-51 like kinase 4 gene DOID:9538 multiple myeloma ISO RGD:1346964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22120009 12294215 ULK4 unc-51 like kinase 4 gene DOID:9970 obesity ISO RGD:1346964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity 12294263 DHX37 DEAH-box helicase 37 gene DOID:1059 intellectual disability ISO RGD:1315679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:26539891|PMID:31256877 12294263 DHX37 DEAH-box helicase 37 gene DOID:11975 coloboma of optic nerve ISO RGD:1315679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coloboma of optic nerve PMID:31256877 12294263 DHX37 DEAH-box helicase 37 gene DOID:1826 epilepsy ISO RGD:1315679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532|PMID:31256877 12294263 DHX37 DEAH-box helicase 37 gene DOID:630 genetic disease ISO RGD:1315679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12294263 DHX37 DEAH-box helicase 37 gene DOID:9002794 NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES ISO RGD:1315679 D RGD:7240710 20200226 OMIM 12294263 DHX37 DEAH-box helicase 37 gene DOID:9002794 NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES ISO RGD:1315679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies PMID:25741868|PMID:26539891|PMID:28492532|PMID:31256877 12294263 DHX37 DEAH-box helicase 37 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorders PMID:26539891|PMID:28492532|PMID:31256877 12294263 DHX37 DEAH-box helicase 37 gene DOID:9008502 Anorchia ISO RGD:1315679 D RGD:7240710 20200429 OMIM 12294263 DHX37 DEAH-box helicase 37 gene DOID:9008502 Anorchia ISO RGD:1315679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TESTICULAR REGRESSION, EMBRYONIC | ClinVar Annotator: match by term: Testicular regression syndrome PMID:25741868|PMID:26539891|PMID:28492532|PMID:31287541|PMID:31337883 12294297 USP48 ubiquitin specific peptidase 48 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1351270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12294297 USP48 ubiquitin specific peptidase 48 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1351270 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12294297 USP48 ubiquitin specific peptidase 48 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1351270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12294297 USP48 ubiquitin specific peptidase 48 gene DOID:10283 prostate cancer ISO RGD:1351270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12294297 USP48 ubiquitin specific peptidase 48 gene DOID:630 genetic disease ISO RGD:1351270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294297 USP48 ubiquitin specific peptidase 48 gene DOID:670 amphetamine abuse ISO RGD:1351270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12294297 USP48 ubiquitin specific peptidase 48 gene DOID:9002609 Autosomal Dominant Nonsyndromic Deafness 85 ISO RGD:1351270 D RGD:7240710 20230215 OMIM 12294297 USP48 ubiquitin specific peptidase 48 gene DOID:9002609 Autosomal Dominant Nonsyndromic Deafness 85 ISO RGD:1351270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 85 PMID:25741868|PMID:34059922 12294297 USP48 ubiquitin specific peptidase 48 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1351270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12294297 USP48 ubiquitin specific peptidase 48 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 12294339 ASNSD1 asparagine synthetase domain containing 1 gene DOID:0111944 immunodeficiency 31B ISO RGD:1603641 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 12294339 ASNSD1 asparagine synthetase domain containing 1 gene DOID:630 genetic disease ISO RGD:1603641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294339 ASNSD1 asparagine synthetase domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12294352 TET1 tet methylcytosine dioxygenase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1322209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25290267 12294352 TET1 tet methylcytosine dioxygenase 1 gene DOID:630 genetic disease ISO RGD:1322209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294352 TET1 tet methylcytosine dioxygenase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1322209 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:23671639|REF_RGD_ID:9586747 12294368 DYNC1LI2 dynein cytoplasmic 1 light intermediate chain 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1344148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12294368 DYNC1LI2 dynein cytoplasmic 1 light intermediate chain 2 gene DOID:0110255 cataract 5 multiple types ISO RGD:1344148 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 12294368 DYNC1LI2 dynein cytoplasmic 1 light intermediate chain 2 gene DOID:630 genetic disease ISO RGD:1344148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294368 DYNC1LI2 dynein cytoplasmic 1 light intermediate chain 2 gene DOID:9004657 Weight Gain ISO RGD:1344148 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12294383 ELOB elongin B gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:734149 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12294383 ELOB elongin B gene DOID:1826 epilepsy ISO RGD:734149 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12294383 ELOB elongin B gene DOID:1827 idiopathic generalized epilepsy ISO RGD:734149 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12294383 ELOB elongin B gene DOID:630 genetic disease ISO RGD:734149 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294389 ARPC5 actin related protein 2/3 complex subunit 5 gene DOID:0050328 congenital hypothyroidism ISO RGD:1311791 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex (rat) PMID:23459330|REF_RGD_ID:11049475 12294389 ARPC5 actin related protein 2/3 complex subunit 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1323427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12294389 ARPC5 actin related protein 2/3 complex subunit 5 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1323427 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:22089643|REF_RGD_ID:11049488 12294389 ARPC5 actin related protein 2/3 complex subunit 5 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1323427 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:22089643|REF_RGD_ID:11049488 12294389 ARPC5 actin related protein 2/3 complex subunit 5 gene DOID:630 genetic disease ISO RGD:1323427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294389 ARPC5 actin related protein 2/3 complex subunit 5 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis treatment ISO RGD:1311791 D RGD:9068941 20200609 RGD PMID:17997938|REF_RGD_ID:11049469 12294389 ARPC5 actin related protein 2/3 complex subunit 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12294397 ALKBH1 alkB homolog 1, histone H2A dioxygenase gene DOID:630 genetic disease ISO RGD:1318033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294407 PSMC5 proteasome 26S subunit, ATPase 5 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:732741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 12294407 PSMC5 proteasome 26S subunit, ATPase 5 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12294407 PSMC5 proteasome 26S subunit, ATPase 5 gene DOID:630 genetic disease ISO RGD:732741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294423 SH3BP1 SH3 domain binding protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1314801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12294423 SH3BP1 SH3 domain binding protein 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1314801 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12294423 SH3BP1 SH3 domain binding protein 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1314801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12294423 SH3BP1 SH3 domain binding protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1314801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12294423 SH3BP1 SH3 domain binding protein 1 gene DOID:630 genetic disease ISO RGD:1314801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294444 SLC6A9 solute carrier family 6 member 9 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:732096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532 12294444 SLC6A9 solute carrier family 6 member 9 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:732096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12294444 SLC6A9 solute carrier family 6 member 9 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:732096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532 12294444 SLC6A9 solute carrier family 6 member 9 gene DOID:10283 prostate cancer ISO RGD:732096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 12294444 SLC6A9 solute carrier family 6 member 9 gene DOID:630 genetic disease ISO RGD:732096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12294444 SLC6A9 solute carrier family 6 member 9 gene DOID:670 amphetamine abuse ISO RGD:732096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17582620 12294444 SLC6A9 solute carrier family 6 member 9 gene DOID:9007710 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE ISO RGD:732096 D RGD:7240710 20190315 OMIM 12294444 SLC6A9 solute carrier family 6 member 9 gene DOID:9007710 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE ISO RGD:732096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycine encephalopathy with normal serum glycine PMID:16199547|PMID:17576681|PMID:23265383|PMID:25741868|PMID:27481395|PMID:27773429|PMID:28492532|PMID:29190063|PMID:32712301|PMID:9536098 12294444 SLC6A9 solute carrier family 6 member 9 gene DOID:9268 glycine encephalopathy ISO RGD:732097 D RGD:9068941 20220825 MouseDO OMIM:605899 12294485 TMEM131L transmembrane 131 like gene DOID:630 genetic disease ISO RGD:1604047 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294524 VWC2 von Willebrand factor C domain containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12294524 VWC2 von Willebrand factor C domain containing 2 gene DOID:630 genetic disease ISO RGD:1603838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294532 TSG101 tumor susceptibility 101 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1349732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 12294532 TSG101 tumor susceptibility 101 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1349732 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 12294532 TSG101 tumor susceptibility 101 gene DOID:10283 prostate cancer ISO RGD:1349732 D RGD:9068941 20200609 RGD mRNA:alternative forms:cds:multiple PMID:9444960|REF_RGD_ID:2291856 12294532 TSG101 tumor susceptibility 101 gene DOID:1059 intellectual disability ISO RGD:1349732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12294532 TSG101 tumor susceptibility 101 gene DOID:1612 breast cancer ISO RGD:1349732 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17369844|REF_RGD_ID:2291847 12294532 TSG101 tumor susceptibility 101 gene DOID:1612 breast cancer disease_progression ISO RGD:1349732 D RGD:9068941 20200609 RGD DNA:deletion: :154_1054del PMID:10930114|REF_RGD_ID:2291848 12294532 TSG101 tumor susceptibility 101 gene DOID:1612 breast cancer severity ISO RGD:1349732 D RGD:9068941 20200609 RGD mRNA:alternative forms:breast PMID:10618725|REF_RGD_ID:2291849 12294532 TSG101 tumor susceptibility 101 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1349732 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17606716|REF_RGD_ID:2298534 12294532 TSG101 tumor susceptibility 101 gene DOID:2870 endometrial adenocarcinoma ISO RGD:1349732 D RGD:9068941 20200609 RGD mRNA:alternative forms PMID:10027311|REF_RGD_ID:2291854 12294532 TSG101 tumor susceptibility 101 gene DOID:2893 cervix carcinoma ISO RGD:1349732 D RGD:9068941 20200609 RGD mRNA:alternative form:uterine cervix PMID:10600297|REF_RGD_ID:2291851 12294532 TSG101 tumor susceptibility 101 gene DOID:2893 cervix carcinoma ISO RGD:1349732 D RGD:9068941 20200609 RGD mRNA:alternative forms:uterine cervix:multiple PMID:10505033|REF_RGD_ID:2291852 12294532 TSG101 tumor susceptibility 101 gene DOID:3459 breast carcinoma susceptibility ISO RGD:1349732 D RGD:9068941 20200609 RGD DNA:deletions PMID:9019400|REF_RGD_ID:1600429 12294532 TSG101 tumor susceptibility 101 gene DOID:630 genetic disease ISO RGD:1349732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294532 TSG101 tumor susceptibility 101 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1349732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:9019400 12294546 TWF1 twinfilin actin binding protein 1 gene DOID:0060058 lymphoma ISO RGD:1323555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19783987 12294546 TWF1 twinfilin actin binding protein 1 gene DOID:630 genetic disease ISO RGD:1323555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294561 PLAG1 PLAG1 zinc finger gene DOID:1059 intellectual disability ISO RGD:1313225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12294561 PLAG1 PLAG1 zinc finger gene DOID:452 pleomorphic adenoma ISO RGD:1313225 D RGD:7240710 20180130 OMIM 12294561 PLAG1 PLAG1 zinc finger gene DOID:630 genetic disease ISO RGD:1313225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294561 PLAG1 PLAG1 zinc finger gene DOID:9002587 Silver-Russell Syndrome 4 ISO RGD:1313225 D RGD:7240710 20200701 OMIM 12294561 PLAG1 PLAG1 zinc finger gene DOID:9002587 Silver-Russell Syndrome 4 ISO RGD:1313225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Silver-russell syndrome 4 PMID:25741868|PMID:28796236 12294561 PLAG1 PLAG1 zinc finger gene DOID:9006311 Lipoblastoma ISO RGD:1313225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16308870 12294561 PLAG1 PLAG1 zinc finger gene DOID:9007070 Silver-Russell Syndrome 1 ISO RGD:1313225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 1 PMID:28796236 12294573 ZNF774 zinc finger protein 774 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1606399 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12294573 ZNF774 zinc finger protein 774 gene DOID:2717 Bloom syndrome ISO RGD:1606399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12294573 ZNF774 zinc finger protein 774 gene DOID:630 genetic disease ISO RGD:1606399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294573 ZNF774 zinc finger protein 774 gene DOID:9256 colorectal cancer ISO RGD:1606399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12294587 OR6M1 olfactory receptor family 6 subfamily M member 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1344052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12294587 OR6M1 olfactory receptor family 6 subfamily M member 1 gene DOID:5419 schizophrenia ISO RGD:1344052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12294587 OR6M1 olfactory receptor family 6 subfamily M member 1 gene DOID:630 genetic disease ISO RGD:1344052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294587 OR6M1 olfactory receptor family 6 subfamily M member 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12294587 OR6M1 olfactory receptor family 6 subfamily M member 1 gene DOID:9007661 Dwarfism ISO RGD:1344052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12294590 CDYL2 chromodomain Y like 2 gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1319946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 12294590 CDYL2 chromodomain Y like 2 gene DOID:630 genetic disease ISO RGD:1319946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294600 ZNF821 zinc finger protein 821 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12294600 ZNF821 zinc finger protein 821 gene DOID:630 genetic disease ISO RGD:1604613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294622 RPS6KC1 ribosomal protein S6 kinase C1 gene DOID:10283 prostate cancer ISO RGD:1315275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12294622 RPS6KC1 ribosomal protein S6 kinase C1 gene DOID:1540 parathyroid carcinoma ISO RGD:1315275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12294622 RPS6KC1 ribosomal protein S6 kinase C1 gene DOID:630 genetic disease ISO RGD:1315275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12294622 RPS6KC1 ribosomal protein S6 kinase C1 gene DOID:9008086 Developmental Disabilities ISO RGD:1315275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12294622 RPS6KC1 ribosomal protein S6 kinase C1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12294645 PRICKLE3 prickle planar cell polarity protein 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12294645 PRICKLE3 prickle planar cell polarity protein 3 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1350042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12294645 PRICKLE3 prickle planar cell polarity protein 3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1350042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12294645 PRICKLE3 prickle planar cell polarity protein 3 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1350042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12294645 PRICKLE3 prickle planar cell polarity protein 3 gene DOID:0111754 Leber plus disease ISO RGD:1553854 D RGD:9068941 20220825 MouseDO 12294645 PRICKLE3 prickle planar cell polarity protein 3 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1350042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12294645 PRICKLE3 prickle planar cell polarity protein 3 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1350042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12294645 PRICKLE3 prickle planar cell polarity protein 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1350042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 12294645 PRICKLE3 prickle planar cell polarity protein 3 gene DOID:12849 autistic disorder ISO RGD:1350042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12294645 PRICKLE3 prickle planar cell polarity protein 3 gene DOID:630 genetic disease ISO RGD:1350042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294645 PRICKLE3 prickle planar cell polarity protein 3 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1350042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber optic atrophy PMID:32516135 12294645 PRICKLE3 prickle planar cell polarity protein 3 gene DOID:9004196 Leber Optic Atrophy, Susceptibility To ISO RGD:1350042 D RGD:7240710 20220309 OMIM 12294667 SPAG17 sperm associated antigen 17 gene DOID:0080804 cranioectodermal dysplasia 2 ISO RGD:1601710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 12294667 SPAG17 sperm associated antigen 17 gene DOID:0112337 spermatogenic failure 55 ISO RGD:1601710 D RGD:7240710 20210707 OMIM 12294667 SPAG17 sperm associated antigen 17 gene DOID:0112337 spermatogenic failure 55 ISO RGD:1601710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 55 PMID:28548327 12294667 SPAG17 sperm associated antigen 17 gene DOID:630 genetic disease ISO RGD:1601710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294667 SPAG17 sperm associated antigen 17 gene DOID:9007303 Idiopathic Short Stature, Autosomal ISO RGD:1601710 D RGD:9068941 20200609 RGD DNA:snp:enhancer:C>G (rs17038182) (human) PMID:19893584|REF_RGD_ID:11535959 12294740 ARPC5L actin related protein 2/3 complex subunit 5 like gene DOID:630 genetic disease ISO RGD:1318888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294748 TMEM175 transmembrane protein 175 gene DOID:1856 cherubism ISO RGD:1604263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12294748 TMEM175 transmembrane protein 175 gene DOID:630 genetic disease ISO RGD:1604263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294748 TMEM175 transmembrane protein 175 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1604263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 12294780 FAM83D family with sequence similarity 83 member D gene DOID:2234 focal epilepsy ISO RGD:1347604 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12294780 FAM83D family with sequence similarity 83 member D gene DOID:3068 glioblastoma ISO RGD:1347604 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35150198 12294780 FAM83D family with sequence similarity 83 member D gene DOID:630 genetic disease ISO RGD:1347604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294780 FAM83D family with sequence similarity 83 member D gene DOID:684 hepatocellular carcinoma ISO RGD:1347604 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12294791 GNG12 G protein subunit gamma 12 gene DOID:1059 intellectual disability ISO RGD:1319444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12294798 HOTAIR HOX transcript antisense RNA gene DOID:6000 congestive heart failure severity ISO RGD:2293809 D RGD:9068941 20230401 RGD associated with ischemic cardiomyopathy; RNA:decreased expression:heart left ventricle (human) PMID:27317124|REF_RGD_ID:243048444 12294798 HOTAIR HOX transcript antisense RNA gene DOID:630 genetic disease ISO RGD:2293809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294798 HOTAIR HOX transcript antisense RNA gene DOID:684 hepatocellular carcinoma ISO RGD:2293809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21327457 12294798 HOTAIR HOX transcript antisense RNA gene DOID:9000217 Stomach Neoplasms ISO RGD:2293809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26384301 12294798 HOTAIR HOX transcript antisense RNA gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:2293809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29572071 12294798 HOTAIR HOX transcript antisense RNA gene DOID:9003936 Cardiomegaly ISO RGD:5146058 D RGD:9068941 20230401 RGD RNA:decreased expression:heart left ventricle (mouse) PMID:27317124|REF_RGD_ID:243048444 12294798 HOTAIR HOX transcript antisense RNA gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2293809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12294798 HOTAIR HOX transcript antisense RNA gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:2293809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21327457 12294803 HEATR9 HEAT repeat containing 9 gene DOID:630 genetic disease ISO RGD:1604716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:14985375|PMID:15385606|PMID:15955112|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:19549232|PMID:20301342|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26920677|PMID:27491411|PMID:28202706|PMID:28492532|PMID:29068549|PMID:29911575|PMID:32581362 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:737151 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Neuropathy, congenital sensory PMID:14985375|PMID:15385606|PMID:15955112|PMID:16865694|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20522430|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:229911575|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31780880|PMID:32581362|PMID:32613771|PMID:33216760 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:737151 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Neuropathy, congenital sensory PMID:14985375|PMID:15385606|PMID:15955112|PMID:16865694|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20522430|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31780880|PMID:32581362|PMID:32613771|PMID:33216760 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:14985375|PMID:15133511|PMID:15385606|PMID:15955112|PMID:16385454|PMID:16865694|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19763161|PMID:20301342|PMID:20358599|PMID:20478850|PMID:20522430|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28379373|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31394368|PMID:31780880|PMID:32581362|PMID:33216760 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28202706|PMID:28379373|PMID:28492532|PMID:29068549|PMID:30795902 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:737151 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus PMID:20478850|PMID:21698661|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: NEUROPATHY, PROGRESSIVE SENSORY, OF CHILDREN | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15385606|PMID:15955112|PMID:16199547|PMID:16865694|PMID:17145499|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18599537|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19557861|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20522430|PMID:20628234|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21115638|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22286749|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:229911575|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23149731|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25348405|PMID:25401298|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28116328|PMID:28202706|PMID:28235406|PMID:28381558|PMID:28440294|PMID:28492532|PMID:28842445|PMID:28914264|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29924869|PMID:29933521|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30672368|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:32581362|PMID:32613771|PMID:33216760|PMID:34090020|PMID:374104|PMID:9536098 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:737151 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15385606|PMID:15955112|PMID:16199547|PMID:16865694|PMID:17145499|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18599537|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19557861|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20522430|PMID:20628234|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21115638|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25401298|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29924869|PMID:29933521|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30478917|PMID:30554136|PMID:30569495|PMID:30642272|PMID:30672368|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:32581362|PMID:32613771|PMID:33216760|PMID:34090020|PMID:9536098 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:737151 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15302875|PMID:15385606|PMID:15955112|PMID:16199547|PMID:16865694|PMID:17145499|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18599537|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19557861|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20522430|PMID:20628234|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21115638|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25401298|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29924869|PMID:29933521|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30478917|PMID:30554136|PMID:30569495|PMID:30642272|PMID:30672368|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:32581362|PMID:32613771|PMID:33216760|PMID:34090020|PMID:9536098 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:737151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15302875|PMID:15385606|PMID:15955112|PMID:16199547|PMID:16702558|PMID:16865694|PMID:17145499|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18599537|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19557861|PMID:19633428|PMID:19763161|PMID:20038812|PMID:20301342|PMID:20385509|PMID:20478850|PMID:20522430|PMID:20628234|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21115638|PMID:21258341|PMID:21416599|PMID:21441906|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22286749|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23149731|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23850641|PMID:23874707|PMID:23893323|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25209274|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25621899|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28116328|PMID:28202706|PMID:28235406|PMID:28379373|PMID:28381558|PMID:28440294|PMID:28492532|PMID:28658526|PMID:28914264|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29379075|PMID:29500686|PMID:29911575|PMID:29924869|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30554136|PMID:30569495|PMID:30642272|PMID:30672368|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:32005694|PMID:32062735|PMID:32581362|PMID:32707200|PMID:32719824|PMID:33216760|PMID:33487118|PMID:33688580|PMID:33884296|PMID:34090020|PMID:374104|PMID:9536098 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15133511|PMID:15302875|PMID:15385606|PMID:15955112|PMID:16199547|PMID:16385454|PMID:16702558|PMID:16865694|PMID:17145499|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18599537|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19557861|PMID:19633428|PMID:19763161|PMID:20038812|PMID:20301342|PMID:20358599|PMID:20385509|PMID:20478850|PMID:20522430|PMID:20628234|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21115638|PMID:21258341|PMID:21416599|PMID:21441906|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22286749|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23149731|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23850641|PMID:23874707|PMID:23893323|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25209274|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25621899|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28116328|PMID:28202706|PMID:28235406|PMID:28379373|PMID:28381558|PMID:28440294|PMID:28492532|PMID:28658526|PMID:28914264|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29379075|PMID:29500686|PMID:29911575|PMID:29924869|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30554136|PMID:30569495|PMID:30642272|PMID:30672368|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:32005694|PMID:32062735|PMID:32581362|PMID:32707200|PMID:32719824|PMID:33216760|PMID:33487118|PMID:33688580|PMID:33884296|PMID:34090020|PMID:374104|PMID:9536098 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0070309 absence epilepsy ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Absence seizures PMID:25741868 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0080422 Dravet syndrome ISO RGD:737151 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:19763161|PMID:21698661|PMID:22136189|PMID:23280954|PMID:23895530|PMID:25250524|PMID:25741868|PMID:25993546|PMID:26264438|PMID:26467025|PMID:26675522|PMID:26920677|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29264398|PMID:29911575|PMID:30316835 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0090031 D-bifunctional protein deficiency ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: DBP deficiency PMID:16385454|PMID:17167479|PMID:17470132|PMID:19304393|PMID:25309764|PMID:25741868|PMID:28492532|PMID:30795902 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0111112 nephronophthisis 1 ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0111295 generalized epilepsy with febrile seizures plus 7 ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 7 PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15133511|PMID:15385606|PMID:15955112|PMID:16199547|PMID:16385454|PMID:16865694|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19763161|PMID:20301342|PMID:20358599|PMID:20478850|PMID:20522430|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28379373|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:32581362|PMID:33216760 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0111297 familial febrile seizures ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial PMID:21698661|PMID:25741868|PMID:26467025|PMID:28492532 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0111307 familial febrile seizures 1 ISO RGD:737151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial, 1 PMID:25741868|PMID:28492532|PMID:31394368 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0111537 paroxysmal extreme pain disorder ISO RGD:737151 D RGD:7240710 20190315 OMIM 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0111537 paroxysmal extreme pain disorder ISO RGD:737151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal extreme pain disorder | ClinVar Annotator: match by term: RECTAL PAIN, FAMILIAL PMID:15955112|PMID:17145499|PMID:18414213|PMID:18518989|PMID:18599537|PMID:19369487|PMID:19633428|PMID:19763161|PMID:20038812|PMID:20301342|PMID:20478850|PMID:21094958|PMID:21115638|PMID:21698661|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23129781|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:25250524|PMID:25316021|PMID:25333069|PMID:25741868|PMID:25852444|PMID:25993546|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29961513|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30834459|PMID:31193310|PMID:31394368|PMID:31780880|PMID:33216760 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28202706|PMID:28379373|PMID:28492532|PMID:29068549|PMID:30795902 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:21698661|PMID:28492532 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:10907 microcephaly ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:12712 nephronophthisis ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial neonatal seizures PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:1826 epilepsy ISO RGD:737151 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:19763161|PMID:22604722|PMID:23129781|PMID:25250524|PMID:25741868|PMID:26467025|PMID:27504264|PMID:28492532|PMID:29176367|PMID:30642272|PMID:33216760 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:308 early myoclonic encephalopathy ISO RGD:737151 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:19763161|PMID:21698661|PMID:22136189|PMID:23280954|PMID:23895530|PMID:25250524|PMID:25741868|PMID:25993546|PMID:26264438|PMID:26467025|PMID:26675522|PMID:26920677|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29264398|PMID:29911575|PMID:30316835 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:327 syringomyelia ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MORVAN DISEASE PMID:14985375|PMID:15385606|PMID:15955112|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:19549232|PMID:20301342|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26920677|PMID:27491411|PMID:28202706|PMID:28492532|PMID:29068549|PMID:29911575|PMID:32581362 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:327 syringomyelia ISO RGD:737151 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: MORVAN DISEASE | ClinVar Annotator: match by term: Morvan disease PMID:14985375|PMID:15385606|PMID:15955112|PMID:16865694|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20522430|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:229911575|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31780880|PMID:32581362|PMID:32613771|PMID:33216760 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:737151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:18414213|PMID:20478850|PMID:23895530|PMID:24776970|PMID:24848745|PMID:25250524|PMID:25741868|PMID:28492532|PMID:29358611 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:630 genetic disease ISO RGD:737151 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:10514109|PMID:10852559|PMID:10852560|PMID:16199547|PMID:17470132|PMID:17576681|PMID:18414213|PMID:19304393|PMID:19763161|PMID:20478850|PMID:21094958|PMID:21441906|PMID:21698661|PMID:22035805|PMID:22136189|PMID:22539570|PMID:22604722|PMID:22826602|PMID:23129781|PMID:23280954|PMID:23292638|PMID:23895530|PMID:24088041|PMID:24776970|PMID:24820863|PMID:24848745|PMID:25250524|PMID:25316021|PMID:25401298|PMID:25741868|PMID:25852444|PMID:25993546|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27504264|PMID:27525141|PMID:27608006|PMID:28073787|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29911575|PMID:29933521|PMID:29961513|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30554136|PMID:30642272|PMID:31193310|PMID:31372899|PMID:31780880|PMID:33216760|PMID:33487118|PMID:9536098 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:630 genetic disease ISO RGD:737151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10514109|PMID:10852559|PMID:10852560|PMID:16199547|PMID:17470132|PMID:17576681|PMID:18414213|PMID:19304393|PMID:19763161|PMID:20478850|PMID:21094958|PMID:21441906|PMID:21698661|PMID:22035805|PMID:22136189|PMID:22539570|PMID:22604722|PMID:22826602|PMID:23129781|PMID:23280954|PMID:23292638|PMID:23895530|PMID:24088041|PMID:24776970|PMID:24820863|PMID:24848745|PMID:25250524|PMID:25253744|PMID:25316021|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27956748|PMID:28073787|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29911575|PMID:29961513|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30554136|PMID:30642272|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:33216760|PMID:33487118|PMID:9536098 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9002272 Small Fiber Neuropathy ISO RGD:737151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Small fiber neuropathy PMID:18414213|PMID:19763161|PMID:21698661|PMID:22035805|PMID:22539570|PMID:22826602|PMID:23280954|PMID:23850641|PMID:23895530|PMID:24088041|PMID:24817410|PMID:24820863|PMID:25250524|PMID:25316021|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26633545|PMID:27301361|PMID:27525141|PMID:27608006|PMID:27843123|PMID:28073787|PMID:28235406|PMID:28492532|PMID:29176367|PMID:29358611|PMID:29961513|PMID:30478917|PMID:30569495|PMID:31193310 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9002512 Postherpetic Neuralgia ISO RGD:737151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23382806 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9002834 Herpesviridae Infections ISO RGD:737151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23382806 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9005968 Neuralgia ISO RGD:737151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19557861 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9006202 Pruritus ISO RGD:737151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24820863 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9008001 Familial Febrile Seizures 3B ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial, 3b PMID:19763161|PMID:25741868|PMID:28492532|PMID:33216760 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9008086 Developmental Disabilities ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:19763161|PMID:22604722|PMID:23129781|PMID:25250524|PMID:25741868|PMID:26467025|PMID:27504264|PMID:28492532|PMID:29176367|PMID:30642272|PMID:33216760 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9008301 Pseudo-Zellweger Syndrome ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pseudo Zellweger syndrome PMID:16385454|PMID:17167479|PMID:17470132|PMID:19304393|PMID:25309764|PMID:25741868|PMID:28492532|PMID:30795902 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9008324 Congenital Indifference to Pain, Autosomal Recessive ISO RGD:737151 D RGD:7240710 20180130 OMIM 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9008324 Congenital Indifference to Pain, Autosomal Recessive ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal recessive PMID:15955112|PMID:16385454|PMID:17167479|PMID:17470132|PMID:18414213|PMID:18518989|PMID:19304393|PMID:19369487|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20635406|PMID:21094958|PMID:21698661|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23129781|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25741868|PMID:25852444|PMID:25993546|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31394368|PMID:31780880|PMID:32601768|PMID:33216760|PMID:33240936 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9008482 Congenital Pain Insensitivity ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital Indifference to Pain | ClinVar Annotator: match by term: INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED | ClinVar Annotator: match by term: Insensitivity to pain, channelopathy-associated | ClinVar Annotator: match by term: Pain insensitivity PMID:15955112|PMID:16385454|PMID:17167479|PMID:17470132|PMID:17576681|PMID:18414213|PMID:18518989|PMID:19304393|PMID:19369487|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20635406|PMID:21094958|PMID:21698661|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23129781|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25741868|PMID:25852444|PMID:25993546|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28235406|PMID:28440294|PMID:28492532|PMID:28914264|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31394368|PMID:31780880|PMID:32601768|PMID:33216760|PMID:33240936|PMID:374104|PMID:9536098 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9008520 Chronic Pain ISO RGD:737151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21634377 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9240 erythromelalgia ISO RGD:737151 D RGD:7240710 20180130 OMIM 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9240 erythromelalgia ISO RGD:737151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythermalgia, primary | ClinVar Annotator: match by term: Inherited Erythromelalgia | ClinVar Annotator: match by term: Primary erythromelalgia PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15302875|PMID:1536168|PMID:15385606|PMID:15955112|PMID:15958509|PMID:16216943|PMID:16392115|PMID:16702558|PMID:16988069|PMID:17101882|PMID:17135418|PMID:17294067|PMID:17985268|PMID:18171466|PMID:18347287|PMID:18414213|PMID:18518989|PMID:19369487|PMID:19549232|PMID:19557861|PMID:19763161|PMID:20301342|PMID:20385509|PMID:20478850|PMID:20635406|PMID:21094958|PMID:21115638|PMID:21698661|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23129781|PMID:23149731|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23874707|PMID:23893323|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:25250524|PMID:25316021|PMID:25333069|PMID:25741868|PMID:25852444|PMID:25993546|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28235406|PMID:28440294|PMID:28492532|PMID:28658526|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29379075|PMID:29500686|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30702961|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:32581362|PMID:33216760|PMID:33487118|PMID:33688580|PMID:33884296 12294835 SCN9A sodium voltage-gated channel alpha subunit 9 gene DOID:9993 hypoglycemia ISO RGD:737151 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:19763161|PMID:22604722|PMID:23129781|PMID:25250524|PMID:25741868|PMID:26467025|PMID:27504264|PMID:28492532|PMID:29176367|PMID:30642272|PMID:33216760 12294921 TREX1 three prime repair exonuclease 1 gene DOID:0050169 cutaneous lupus erythematosus ISO RGD:1320018 D RGD:9068941 20220825 MouseDO 12294921 TREX1 three prime repair exonuclease 1 gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1323748 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME PMID:16845398|PMID:17846997|PMID:20131292|PMID:23602593|PMID:24033266|PMID:24183309|PMID:24300241|PMID:25582466|PMID:25604658|PMID:25741868|PMID:26467025|PMID:26938784|PMID:28492532|PMID:28750028 12294921 TREX1 three prime repair exonuclease 1 gene DOID:0060386 Chilblain lupus ISO RGD:1323748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chilblain lupus PMID:16960810|PMID:17357087|PMID:17440703|PMID:18805785|PMID:20799324|PMID:20871604|PMID:21808053|PMID:22829693|PMID:23989343|PMID:25848017|PMID:28492532 12294921 TREX1 three prime repair exonuclease 1 gene DOID:0111567 retinal vasculopathy with cerebral leukodystrophy ISO RGD:1323748 D RGD:7240710 20180130 OMIM 12294921 TREX1 three prime repair exonuclease 1 gene DOID:0111567 retinal vasculopathy with cerebral leukodystrophy ISO RGD:1323748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | ClinVar Annotator: match by term: Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:1821204|PMID:18583934|PMID:18805785|PMID:20131292|PMID:21270825|PMID:21937424|PMID:23602593|PMID:23881107|PMID:23979357|PMID:24033266|PMID:24183309|PMID:24224166|PMID:25138095|PMID:25582466|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:26938784|PMID:27391121|PMID:27604306|PMID:28089741|PMID:28492532|PMID:29239743|PMID:30219631|PMID:3174024|PMID:31980526|PMID:33504652|PMID:34426522|PMID:9371916 12294921 TREX1 three prime repair exonuclease 1 gene DOID:13945 CADASIL ISO RGD:1323748 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy PMID:17660818|PMID:21270825|PMID:23881107|PMID:28492532|PMID:35307828 12294921 TREX1 three prime repair exonuclease 1 gene DOID:630 genetic disease ISO RGD:1323748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:18583934|PMID:18805785|PMID:20131292|PMID:21270825|PMID:21937424|PMID:23881107|PMID:23979357|PMID:24033266|PMID:24183309|PMID:24224166|PMID:25138095|PMID:25500883|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:27391121|PMID:28089741|PMID:28492532|PMID:29239743|PMID:30219631|PMID:31980526|PMID:33504652|PMID:33606975|PMID:34426522 12294921 TREX1 three prime repair exonuclease 1 gene DOID:8725 vascular dementia ISO RGD:1323748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:17660818|PMID:21270825|PMID:23881107|PMID:28492532|PMID:35307828 12294921 TREX1 three prime repair exonuclease 1 gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:1323748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombotic microangiopathy PMID:29941221 12294921 TREX1 three prime repair exonuclease 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1323748 D RGD:7240710 20180725 OMIM 12294921 TREX1 three prime repair exonuclease 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1323748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:16960810|PMID:17293595|PMID:17357087|PMID:17440703|PMID:17660818|PMID:17660820|PMID:17846997|PMID:1821204|PMID:18583934|PMID:18805785|PMID:19344873|PMID:19875384|PMID:20131292|PMID:20799324|PMID:20871604|PMID:21270825|PMID:21808053|PMID:21937424|PMID:22367235|PMID:22829693|PMID:23602593|PMID:23881107|PMID:23918923|PMID:23979357|PMID:23989343|PMID:24033266|PMID:24088041|PMID:24183309|PMID:24224166|PMID:24300241|PMID:25138095|PMID:25500883|PMID:25582466|PMID:25604658|PMID:25741868|PMID:25848017|PMID:25906927|PMID:26150267|PMID:26182405|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26691497|PMID:26938784|PMID:27391121|PMID:27604306|PMID:28089741|PMID:28492532|PMID:28750028|PMID:28919362|PMID:29239743|PMID:29387804|PMID:29453956|PMID:30219631|PMID:31130681|PMID:31589614|PMID:31719132|PMID:3174024|PMID:31980526|PMID:32860008|PMID:33504652|PMID:33606975|PMID:33892200|PMID:34426522|PMID:34440436|PMID:35307828 12294921 TREX1 three prime repair exonuclease 1 gene DOID:9001488 Human Influenza ISO RGD:1323748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12294921 TREX1 three prime repair exonuclease 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1323748 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12294921 TREX1 three prime repair exonuclease 1 gene DOID:9005372 Inflammation ISO RGD:1323748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16845398 12294921 TREX1 three prime repair exonuclease 1 gene DOID:9005881 Chilblain Lupus 1 ISO RGD:1323748 D RGD:7240710 20180130 OMIM 12294921 TREX1 three prime repair exonuclease 1 gene DOID:9005881 Chilblain Lupus 1 ISO RGD:1323748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chilblain lupus 1 PMID:16845398|PMID:23602593|PMID:24183309|PMID:25582466|PMID:25604658|PMID:25741868|PMID:26938784|PMID:28492532 12294921 TREX1 three prime repair exonuclease 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1323748 D RGD:7240710 20180130 OMIM 12294921 TREX1 three prime repair exonuclease 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1323748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:18583934|PMID:18805785|PMID:20131292|PMID:21270825|PMID:21937424|PMID:23881107|PMID:24033266|PMID:24224166|PMID:24300241|PMID:25138095|PMID:25582466|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:27391121|PMID:28089741|PMID:28492532|PMID:28750028|PMID:29239743|PMID:30219631|PMID:31980526|PMID:33504652|PMID:34426522 12294921 TREX1 three prime repair exonuclease 1 gene DOID:936 brain disease ISO RGD:1323748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16845398 12294974 KLK2 kallikrein-related peptidase 2 gene DOID:10289 prostate malignant phyllodes tumor ISO RGD:1343198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22360509 12294974 KLK2 kallikrein-related peptidase 2 gene DOID:11132 prostatic hypertrophy ISO RGD:1343198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21128595 12294974 KLK2 kallikrein-related peptidase 2 gene DOID:1612 breast cancer ISO RGD:1343198 D RGD:9068941 20200609 RGD protein:increased expression:serum:in patients with breast cancer versus benign breast disease (p=0.025) PMID:10069662|REF_RGD_ID:2301715 12294974 KLK2 kallikrein-related peptidase 2 gene DOID:630 genetic disease ISO RGD:1343198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294974 KLK2 kallikrein-related peptidase 2 gene DOID:9000918 Disease Progression ISO RGD:1343198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12644816 12294974 KLK2 kallikrein-related peptidase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12644816|PMID:15790600|PMID:16424004|PMID:16442593|PMID:16984552|PMID:17003774|PMID:17148459|PMID:18264097|PMID:18500220|PMID:18676866|PMID:27318894 12294974 KLK2 kallikrein-related peptidase 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1343198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16984552 12294983 GPATCH1 G-patch domain containing 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1318991 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12294983 GPATCH1 G-patch domain containing 1 gene DOID:630 genetic disease ISO RGD:1318991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12294983 GPATCH1 G-patch domain containing 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1318991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:28492532 12295007 RFT1 RFT1 homolog gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1342907 D RGD:7240710 20180130 OMIM 12295007 RFT1 RFT1 homolog gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1342907 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CDG In | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:16199547|PMID:17576681|PMID:18313027|PMID:19267216|PMID:19701946|PMID:19856127|PMID:23111317|PMID:25741868|PMID:26892341|PMID:27172925|PMID:28492532|PMID:28940310|PMID:29923091|PMID:30071302|PMID:30653653|PMID:31231135|PMID:33023636|PMID:9536098 12295007 RFT1 RFT1 homolog gene DOID:0110119 autoimmune lymphoproliferative syndrome type 3 ISO RGD:1342907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III PMID:11976687|PMID:23319571|PMID:23430113|PMID:28492532 12295007 RFT1 RFT1 homolog gene DOID:5212 congenital disorder of glycosylation ISO RGD:1342907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 12295007 RFT1 RFT1 homolog gene DOID:630 genetic disease ISO RGD:1342907 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26892341|PMID:28492532|PMID:31231135|PMID:33023636 12295025 TP53TG5 TP53 target 5 gene DOID:2234 focal epilepsy ISO RGD:1350426 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12295025 TP53TG5 TP53 target 5 gene DOID:630 genetic disease ISO RGD:1350426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12295025 TP53TG5 TP53 target 5 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350426 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12295034 CCDC65 coiled-coil domain containing 65 gene DOID:0110611 primary ciliary dyskinesia 27 ISO RGD:1604557 D RGD:7240710 20180130 OMIM 12295034 CCDC65 coiled-coil domain containing 65 gene DOID:0110611 primary ciliary dyskinesia 27 ISO RGD:1604557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 27 PMID:16199547|PMID:17576681|PMID:23991085|PMID:24033266|PMID:24094744|PMID:25741868|PMID:28492532|PMID:9536098 12295034 CCDC65 coiled-coil domain containing 65 gene DOID:630 genetic disease ISO RGD:1604557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12295034 CCDC65 coiled-coil domain containing 65 gene DOID:9007073 Cough ISO RGD:1604557 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cough PMID:23991085|PMID:25741868|PMID:28492532 12295034 CCDC65 coiled-coil domain containing 65 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1604557 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 12295046 APC APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10612827|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737795|PMID:10768871|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11247895|PMID:11247896|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12581900|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17568392|PMID:17576681|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24573554|PMID:24599579|PMID:24651453|PMID:24664542|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27574554|PMID:27600092|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28202063|PMID:28283864|PMID:28349240|PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28749474|PMID:28828701|PMID:28873162|PMID:29029407|PMID:29122597|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29684080|PMID:29710228|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29987844|PMID:30152102|PMID:30256826|PMID:30267214|PMID:30374176 12295046 APC APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:30426508|PMID:30487145|PMID:30613976|PMID:30680046|PMID:30814645|PMID:30897307|PMID:30980208|PMID:31054147|PMID:31113927|PMID:31159747|PMID:31285513|PMID:31428572|PMID:31444830|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33436027|PMID:33773808|PMID:33788735|PMID:35142982|PMID:7562975|PMID:7833936|PMID:8103406|PMID:8111416|PMID:8125478|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9342373|PMID:9487968|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 12295046 APC APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17026565|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21315632|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28251689|PMID:28283864|PMID:28349240|PMID:28423518 12295046 APC APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28749474|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28944238|PMID:29029407|PMID:29122597|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31942411|PMID:32547059|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33009979|PMID:33193653|PMID:33279946|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33753878|PMID:33773808|PMID:33788735|PMID:34250417|PMID:34479915|PMID:35142982|PMID:7524601|PMID:7562975|PMID:7833931|PMID:7833936|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 12295046 APC APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17026565|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21270786|PMID:21315632|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25974703|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28202063 12295046 APC APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17026565|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21315632|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28251689|PMID:28283864 12295046 APC APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL PMID:28349240|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28749474|PMID:28791770|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28944238|PMID:29029407|PMID:29122597|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31942411|PMID:32547059|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33009979|PMID:33193653|PMID:33279946|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33753878|PMID:33773808|PMID:33788735|PMID:34250417|PMID:34347074|PMID:34479915|PMID:35142982|PMID:36988593|PMID:7524601|PMID:7562975|PMID:7833931|PMID:7833936|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 12295046 APC APC regulator of WNT signaling pathway gene DOID:0050589 inflammatory bowel disease ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18716850 12295046 APC APC regulator of WNT signaling pathway gene DOID:0050860 colorectal adenoma ISO RGD:736624 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal adenoma PMID:10811618|PMID:11257105|PMID:11823972|PMID:11904335|PMID:16454848|PMID:18199528|PMID:18844223|PMID:20233475|PMID:21859464|PMID:22703879|PMID:22722839|PMID:22995991|PMID:23085758|PMID:23292937|PMID:23970361|PMID:24033266|PMID:24055113|PMID:2472832|PMID:24728327|PMID:24861525|PMID:25178641|PMID:25203624|PMID:25318351|PMID:25356985|PMID:25479140|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26000489|PMID:26332594|PMID:26416840|PMID:26467025|PMID:26580448|PMID:27153395|PMID:27535533|PMID:27600092|PMID:28259476|PMID:28301460|PMID:28492532|PMID:28503720|PMID:28873162|PMID:28944238|PMID:29212164|PMID:29684080|PMID:30122538|PMID:30256826|PMID:31159747|PMID:33503190|PMID:34250417|PMID:34301788|PMID:35128723 12295046 APC APC regulator of WNT signaling pathway gene DOID:0050902 medulloblastoma ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7661930 12295046 APC APC regulator of WNT signaling pathway gene DOID:0050902 medulloblastoma ISO RGD:736624 D RGD:9068941 20200609 RGD associated with Adenomatous Polyposis Coli;DNA:mutations: : PMID:17238184|REF_RGD_ID:6484523 12295046 APC APC regulator of WNT signaling pathway gene DOID:0060041 autism spectrum disorder ISO RGD:736624 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12295046 APC APC regulator of WNT signaling pathway gene DOID:0080366 desmoid tumor ISO RGD:736624 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Desmoid tumor PMID:1316610|PMID:15311282|PMID:17293347|PMID:22135120|PMID:23757202|PMID:25741868|PMID:27081525|PMID:28492532|PMID:8381579|PMID:9824584 12295046 APC APC regulator of WNT signaling pathway gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736624 D RGD:7240710 20190227 OMIM 12295046 APC APC regulator of WNT signaling pathway gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10454823|PMID:10470088|PMID:10494086|PMID:10562580|PMID:10598803|PMID:10612827|PMID:10634400|PMID:10646887|PMID:10666372|PMID:10669993|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10830991|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11145293|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11668620|PMID:11707392|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11754114|PMID:11818965|PMID:11823972|PMID:11839722|PMID:11852337|PMID:11896079|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12136240|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12486240|PMID:12494469|PMID:12503191|PMID:12527714|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12721244|PMID:12894596|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1319838|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14522379|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14672538|PMID:14695993|PMID:14729851|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15095859|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15446460|PMID:15459959|PMID:15654777|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:15952110|PMID:16088911|PMID:16110024|PMID:16111973|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:16478792|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:16680592|PMID:16736293|PMID:1678319|PMID:16875934|PMID:16944273|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17169185|PMID:17293347|PMID:17410430|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17665205|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18166348|PMID:18199528|PMID:18224684|PMID:18343606|PMID:18369740|PMID:18387968|PMID:18393237|PMID:18406876|PMID:1843350|PMID:18433509|PMID:18487285|PMID:18612690|PMID:18629394|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18982352|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19279422|PMID:19307944|PMID:19331226|PMID:19336753|PMID:19347965|PMID:19409520|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19506109|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19763152|PMID:19768578|PMID:19793053|PMID:19995397|PMID:20007843|PMID:20033787|PMID:20223039|PMID:20232483|PMID:20233475|PMID:20301519|PMID:20307669|PMID:20333795|PMID:20434453|PMID:20513532|PMID:20564245|PMID:20649969|PMID:20682701|PMID:2068566|PMID:20685668|PMID:2068568|PMID:20924072|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21315632|PMID:21476993|PMID:21520333|PMID:21533174|PMID:21598003|PMID:21643010|PMID:21646762|PMID:21653199|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21909382|PMID:21970370|PMID:21995949|PMID:22000517|PMID:22027476|PMID:22135120|PMID:22150579|PMID:22164339|PMID:22395475|PMID:22406018|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22447671|PMID:22585170|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22799487|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22863191|PMID:22864254|PMID:22875147|PMID:22941256|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23244118|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23571587|PMID:23575299|PMID:23576677|PMID:23585368|PMID:23700467|PMID:23709753|PMID:23715166 12295046 APC APC regulator of WNT signaling pathway gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:23725351|PMID:23757202|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24233542|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24506336|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24618431|PMID:24651015|PMID:24651453|PMID:24664542|PMID:2472832|PMID:24728327|PMID:24735542|PMID:24750145|PMID:24755471|PMID:24763289|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:24946964|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25159889|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25243319|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25640679|PMID:25665006|PMID:25676610|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25801821|PMID:25815427|PMID:25819062|PMID:25832318|PMID:25925381|PMID:25938944|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26414517|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26511139|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26684191|PMID:26690363|PMID:26692440|PMID:26787237|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26934580|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27217144|PMID:27260402|PMID:27282352|PMID:27284491|PMID:27302369|PMID:27329244|PMID:27343414|PMID:27347161|PMID:27354939|PMID:27391059|PMID:27435373|PMID:27443514|PMID:27449473|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28002797|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28380452|PMID:28423518|PMID:28481359|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28576136|PMID:28608266|PMID:28640387|PMID:28663347|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29251405|PMID:29360161|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29458332|PMID:29478780|PMID:29485843|PMID:29506128|PMID:29517769|PMID:29518763|PMID:29535845|PMID:29562902|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29754767|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30239046|PMID:30256815|PMID:30256826|PMID:30267214|PMID:30272267|PMID:30274973 12295046 APC APC regulator of WNT signaling pathway gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:30287922|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30569724|PMID:30580288|PMID:30584346|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30809968|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31273614|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31504825|PMID:31547467|PMID:31552911|PMID:31702654|PMID:31703593|PMID:31744909|PMID:31780696|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32251017|PMID:32255556|PMID:32283892|PMID:32390703|PMID:32543227|PMID:32547059|PMID:32547938|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32829589|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32984025|PMID:32992489|PMID:32994724|PMID:33009979|PMID:33011440|PMID:33193653|PMID:33242120|PMID:33279946|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33606809|PMID:33646313|PMID:33670833|PMID:33753878|PMID:33773808|PMID:33788735|PMID:33821390|PMID:33875564|PMID:33977078|PMID:34034685|PMID:34106356|PMID:34250417|PMID:34271781|PMID:34301788|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34479915|PMID:34545850|PMID:34754157|PMID:34855061|PMID:34897210|PMID:35098669|PMID:35128723|PMID:35142982|PMID:36988593|PMID:7485167|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7661930|PMID:7746201|PMID:7797123|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7951218|PMID:7959691|PMID:7981688|PMID:8019566|PMID:8103406|PMID:8111410|PMID:8111416|PMID:8162022|PMID:8162051|PMID:8187091|PMID:8252630|PMID:8252631|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8390900|PMID:8395941|PMID:8544194|PMID:8594558|PMID:8625067|PMID:8730280|PMID:8733048|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8910893|PMID:8931709|PMID:8940262|PMID:8940264|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9067764|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9452101|PMID:9476377|PMID:9487968|PMID:9494520|PMID:950360|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9765274|PMID:9824584|PMID:9831355|PMID:9843214|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 12295046 APC APC regulator of WNT signaling pathway gene DOID:0111349 hereditary desmoid disease ISO RGD:736624 D RGD:7240710 20180130 OMIM 12295046 APC APC regulator of WNT signaling pathway gene DOID:0111349 hereditary desmoid disease ISO RGD:736624 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation PMID:10077730|PMID:10083733|PMID:10094547|PMID:10470088|PMID:10713886|PMID:10768871|PMID:10782927|PMID:11741105|PMID:11748858|PMID:11933206|PMID:12007223|PMID:12034871|PMID:12173026|PMID:12357334|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14523376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15857185|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16199547|PMID:16292097|PMID:16317745|PMID:16461775|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17576681|PMID:17604324|PMID:17785554|PMID:17963004|PMID:18155426|PMID:18199528|PMID:18433509|PMID:19029688|PMID:19196998|PMID:19444466|PMID:1944466|PMID:19531215|PMID:19793053|PMID:20223039|PMID:20301519|PMID:20649969|PMID:2068566|PMID:20685668|PMID:20924072|PMID:21110124|PMID:21153778|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22431159|PMID:22447671|PMID:22703879|PMID:22864938|PMID:23159591|PMID:23970361|PMID:24033266|PMID:24055113|PMID:24123366|PMID:24448499|PMID:24573554|PMID:24599579|PMID:24728327|PMID:24735542|PMID:25186627|PMID:25203624|PMID:25318351|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25637381|PMID:25741868|PMID:25778705|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26138249|PMID:26300997|PMID:26320869|PMID:26332594|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26510091|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26681312|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27150160|PMID:27153395|PMID:27302369|PMID:27498913|PMID:27600092|PMID:27621404|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28202063|PMID:28283864|PMID:28301460|PMID:28492532|PMID:28526081|PMID:28608266|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29122597|PMID:29212164|PMID:29367705|PMID:29641532|PMID:29684080|PMID:29915797|PMID:29945567|PMID:30267214|PMID:30374176|PMID:30613976|PMID:30897307|PMID:31054147|PMID:31069152|PMID:31159747|PMID:31278746|PMID:31422818|PMID:31428572|PMID:31942411|PMID:32658311|PMID:33279946|PMID:33309985|PMID:33352971|PMID:34479915|PMID:35142982|PMID:36988593|PMID:7661930|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8381580|PMID:8730280|PMID:8844222|PMID:8940264|PMID:8990002|PMID:9101302|PMID:9342373|PMID:9536098|PMID:9585611|PMID:9664575|PMID:9669663|PMID:9824584|PMID:9950360 12295046 APC APC regulator of WNT signaling pathway gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7661930 12295046 APC APC regulator of WNT signaling pathway gene DOID:10283 prostate cancer ISO RGD:10166 D RGD:9068941 20220825 MouseDO OMIM:176807 | OMIM:300147 | OMIM:300704 | OMIM:601518 | OMIM:602759 | OMIM:608656 | OMIM:608658 | OMIM:609299 | OMIM:609558 | OMIM:610321 | OMIM:610997 | OMIM:611100 | OMIM:611868 | OMIM:611928 | OMIM:611955 | OMIM:611958 | OMIM:611959 12295046 APC APC regulator of WNT signaling pathway gene DOID:10283 prostate cancer disease_progression ISO RGD:730903 D RGD:9068941 20220317 RGD PMID:16322291|REF_RGD_ID:151665170 12295046 APC APC regulator of WNT signaling pathway gene DOID:10534 stomach cancer ISO RGD:736624 D RGD:7240710 20220209 OMIM 12295046 APC APC regulator of WNT signaling pathway gene DOID:10534 stomach cancer ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:10094547|PMID:11247896|PMID:11754114|PMID:12007223|PMID:12034871|PMID:12357334|PMID:1316610|PMID:1317264|PMID:1324223|PMID:15108286|PMID:15311282|PMID:15951963|PMID:16461775|PMID:17293347|PMID:17963004|PMID:18433509|PMID:19531215|PMID:19793053|PMID:20223039|PMID:20301519|PMID:20685668|PMID:20924072|PMID:22135120|PMID:23159591|PMID:24033266|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26613750|PMID:26681312|PMID:26845104|PMID:27081525|PMID:28152038|PMID:28492532|PMID:29754767|PMID:30256826|PMID:30287922|PMID:30897307|PMID:31285513|PMID:31942411|PMID:36988593|PMID:8381579|PMID:9824584 12295046 APC APC regulator of WNT signaling pathway gene DOID:1059 intellectual disability ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8071957 12295046 APC APC regulator of WNT signaling pathway gene DOID:10652 Alzheimer's disease ISO RGD:736624 D RGD:9068941 20200609 RGD protein:increased expression:astrocyte PMID:11547943|REF_RGD_ID:6484525 12295046 APC APC regulator of WNT signaling pathway gene DOID:10816 duodenum adenocarcinoma ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duodenal adenocarcinoma PMID:24033266|PMID:25741868|PMID:26530882|PMID:28195569|PMID:28492532|PMID:30111351|PMID:30833958 12295046 APC APC regulator of WNT signaling pathway gene DOID:11394 adult respiratory distress syndrome ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12295046 APC APC regulator of WNT signaling pathway gene DOID:1168 familial hyperlipidemia ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17546600 12295046 APC APC regulator of WNT signaling pathway gene DOID:12192 sigmoid colon cancer ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sigmoid colon cancer PMID:25741868|PMID:28492532 12295046 APC APC regulator of WNT signaling pathway gene DOID:12849 autistic disorder ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17221838|PMID:8071957 12295046 APC APC regulator of WNT signaling pathway gene DOID:1380 endometrial cancer ISO RGD:736624 D RGD:9068941 20200609 RGD protein:increased expression:endometrium (human) PMID:15951972|REF_RGD_ID:13673917 12295046 APC APC regulator of WNT signaling pathway gene DOID:1380 endometrial cancer severity ISO RGD:10166 D RGD:9068941 20200609 RGD with Pten knockout PMID:23288720|REF_RGD_ID:13524585 12295046 APC APC regulator of WNT signaling pathway gene DOID:1380 endometrial cancer severity ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:mutations, haplotype:cds:multiple (human) PMID:29876005|REF_RGD_ID:13673916 12295046 APC APC regulator of WNT signaling pathway gene DOID:1380 endometrial cancer treatment ISO RGD:736624 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:22907428|REF_RGD_ID:13524624 12295046 APC APC regulator of WNT signaling pathway gene DOID:13938 amenorrhea ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12295046 APC APC regulator of WNT signaling pathway gene DOID:14566 disease of cellular proliferation ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:25157968 12295046 APC APC regulator of WNT signaling pathway gene DOID:1520 colon carcinoma ISO RGD:736624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10830991|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11823972|PMID:11852337|PMID:11960572|PMID:12007223|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12486240|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14729851|PMID:14961559|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15712637|PMID:15771908|PMID:15857185|PMID:15929773|PMID:16088911|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16461775|PMID:1651563|PMID:16569251|PMID:16680592|PMID:16875934|PMID:17064931|PMID:17119068|PMID:17293347|PMID:17410430|PMID:17411426|PMID:17489848|PMID:17576681|PMID:17604324|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18166348|PMID:18199528|PMID:18343606|PMID:18393237|PMID:18433509|PMID:18770064|PMID:18794146|PMID:18948947|PMID:19029688|PMID:19196998|PMID:19336753|PMID:19347965|PMID:19444466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:21110124|PMID:21153778|PMID:21315632|PMID:21520333|PMID:21653199|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21970370|PMID:21995949|PMID:22135120|PMID:22150579|PMID:22431159|PMID:22585170|PMID:22703879|PMID:2281069|PMID:22810696|PMID:22864938|PMID:22875147|PMID:22941256|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23204322|PMID:23575299|PMID:23576677|PMID:23700467|PMID:23715166|PMID:23846443|PMID:23896379|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24518971|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24750145|PMID:24861525|PMID:25142776|PMID:25157968|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25257991|PMID:25318351|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25722345|PMID:25741868|PMID:25778705|PMID:25832318|PMID:25925381|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26511139|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26667234|PMID:26681312|PMID:26819281|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27146957|PMID:27153395|PMID:27156442|PMID:27443514|PMID:27600092|PMID:27621404|PMID:27705013|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28185118|PMID:28202063|PMID:28251689|PMID:28283864|PMID:28301460|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28528518|PMID:28533537|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28944238|PMID:29122597|PMID:29367705|PMID:29371908|PMID:29478780|PMID:29506128|PMID:29684080|PMID:29901124|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31062380|PMID:31069152|PMID:31159747|PMID:31175917|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:32543227|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33332384 12295046 APC APC regulator of WNT signaling pathway gene DOID:1520 colon carcinoma ISO RGD:736624 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:33352971|PMID:33503190|PMID:33875564|PMID:34479915|PMID:35142982|PMID:36988593|PMID:7524601|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7959691|PMID:8111410|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8941012|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9375853|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 12295046 APC APC regulator of WNT signaling pathway gene DOID:1612 breast cancer ISO RGD:736624 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10439961|PMID:10679643|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11267860|PMID:11354631|PMID:11551102|PMID:11720476|PMID:12173321|PMID:12533824|PMID:12621137|PMID:14624392|PMID:14633595|PMID:15712637|PMID:15929773|PMID:16228836|PMID:16875934|PMID:17854661|PMID:18343606|PMID:18770064|PMID:20301519|PMID:21859464|PMID:22703879|PMID:23576677|PMID:23896379|PMID:24033266|PMID:24310308|PMID:24416237|PMID:24599579|PMID:24728327|PMID:25604157|PMID:25741868|PMID:26187149|PMID:26300997|PMID:26314409|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26845104|PMID:27146957|PMID:27153395|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28492532|PMID:28749474|PMID:29478780|PMID:29506128|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31444830|PMID:31447099|PMID:31465090|PMID:32658311|PMID:32854451|PMID:33193653|PMID:33332384|PMID:8940262|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9973276 12295046 APC APC regulator of WNT signaling pathway gene DOID:1749 squamous cell carcinoma ISO RGD:736624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 12295046 APC APC regulator of WNT signaling pathway gene DOID:1793 pancreatic cancer ISO RGD:10166 D RGD:9068941 20200609 RGD DNA:mutation, loss of heterozygosity PMID:7478622|REF_RGD_ID:2317207 12295046 APC APC regulator of WNT signaling pathway gene DOID:1793 pancreatic cancer ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:deletions (human) PMID:1423316|REF_RGD_ID:2317208 12295046 APC APC regulator of WNT signaling pathway gene DOID:1896 sigmoid neoplasm ISO RGD:736624 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sigmoid colon cancer PMID:25741868|PMID:28492532 12295046 APC APC regulator of WNT signaling pathway gene DOID:1984 rectal benign neoplasm ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11766074|PMID:8071957 12295046 APC APC regulator of WNT signaling pathway gene DOID:1996 rectum adenocarcinoma ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rectum adenocarcinoma PMID:24033266|PMID:25741868|PMID:26530882|PMID:28195569|PMID:28492532|PMID:30111351|PMID:30833958 12295046 APC APC regulator of WNT signaling pathway gene DOID:218 ascending colon cancer ISO RGD:736624 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Malignant tumor of ascending colon PMID:25741868|PMID:28492532|PMID:30093976 12295046 APC APC regulator of WNT signaling pathway gene DOID:219 colon cancer ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:22675565|PMID:25741868|PMID:26692440|PMID:26837502|PMID:28492532 12295046 APC APC regulator of WNT signaling pathway gene DOID:234 colon adenocarcinoma ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma PMID:24033266|PMID:24728327|PMID:25741868|PMID:27978560|PMID:28492532 12295046 APC APC regulator of WNT signaling pathway gene DOID:2355 anemia ISO RGD:2123 D RGD:9068941 20201211 RGD PMID:17360473|REF_RGD_ID:1601201 12295046 APC APC regulator of WNT signaling pathway gene DOID:2361 macrocytic anemia ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 12295046 APC APC regulator of WNT signaling pathway gene DOID:2394 ovarian cancer ISO RGD:736624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:18199528|PMID:19307944|PMID:21859464|PMID:25203624|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26000489|PMID:26332594|PMID:26467025|PMID:26530882|PMID:27121310|PMID:28195569|PMID:28492532|PMID:28744403|PMID:28944238|PMID:29684080|PMID:30256826|PMID:31062380|PMID:33193653|PMID:34250417 12295046 APC APC regulator of WNT signaling pathway gene DOID:2671 transitional cell carcinoma ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:methylation: : PMID:21599969|REF_RGD_ID:7242057 12295046 APC APC regulator of WNT signaling pathway gene DOID:2871 endometrial carcinoma ISO RGD:736624 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25741868|PMID:28492532|PMID:32885271 12295046 APC APC regulator of WNT signaling pathway gene DOID:2871 endometrial carcinoma onset ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: (human) PMID:19900189|REF_RGD_ID:13524625 12295046 APC APC regulator of WNT signaling pathway gene DOID:299 adenocarcinoma ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15639718|PMID:9111214 12295046 APC APC regulator of WNT signaling pathway gene DOID:299 adenocarcinoma ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:frameshift mutations, nonsense mutations:exon:multiple (human) PMID:11677205|REF_RGD_ID:2317202 12295046 APC APC regulator of WNT signaling pathway gene DOID:3025 acinar cell carcinoma ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:mutations (human) PMID:11891193|REF_RGD_ID:2317200 12295046 APC APC regulator of WNT signaling pathway gene DOID:3068 glioblastoma ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7661930 12295046 APC APC regulator of WNT signaling pathway gene DOID:3121 gallbladder cancer disease_progression ISO RGD:736624 D RGD:9068941 20220210 RGD DNA:SNP::rs11954856(human) PMID:26715268|REF_RGD_ID:151356500 12295046 APC APC regulator of WNT signaling pathway gene DOID:3459 breast carcinoma ISO RGD:736624 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:10439961|PMID:10679643|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11267860|PMID:11354631|PMID:11551102|PMID:11720476|PMID:12173321|PMID:12533824|PMID:12621137|PMID:14624392|PMID:14633595|PMID:15712637|PMID:15929773|PMID:16228836|PMID:16875934|PMID:17854661|PMID:18343606|PMID:18770064|PMID:20301519|PMID:21859464|PMID:22703879|PMID:23576677|PMID:23896379|PMID:24033266|PMID:24310308|PMID:24416237|PMID:24599579|PMID:24728327|PMID:25604157|PMID:25741868|PMID:26187149|PMID:26300997|PMID:26314409|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26845104|PMID:27146957|PMID:27153395|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28492532|PMID:28749474|PMID:29478780|PMID:29506128|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31444830|PMID:31447099|PMID:31465090|PMID:32658311|PMID:32854451|PMID:33193653|PMID:33332384|PMID:8940262|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9973276 12295046 APC APC regulator of WNT signaling pathway gene DOID:3840 craniopharyngioma ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniopharyngioma PMID:10083733|PMID:11247896|PMID:12172928|PMID:12486240|PMID:1316610|PMID:15311282|PMID:15771908|PMID:16088911|PMID:17293347|PMID:18794146|PMID:19029688|PMID:20649969|PMID:20924072|PMID:22135120|PMID:23159591|PMID:25590978|PMID:25741868|PMID:26446593|PMID:26467025|PMID:26625971|PMID:26840078|PMID:27081525|PMID:28492532|PMID:8162022|PMID:8381579|PMID:8381581|PMID:8395941|PMID:9824584 12295046 APC APC regulator of WNT signaling pathway gene DOID:3883 Lynch syndrome ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7661930 12295046 APC APC regulator of WNT signaling pathway gene DOID:3908 lung non-small cell carcinoma ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18337602 12295046 APC APC regulator of WNT signaling pathway gene DOID:3910 lung adenocarcinoma ISO RGD:736624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10646887|PMID:1316610|PMID:1338764|PMID:15311282|PMID:16134147|PMID:17293347|PMID:18433509|PMID:18948947|PMID:20223039|PMID:20685668|PMID:20924072|PMID:21901162|PMID:22135120|PMID:2281069|PMID:22987206|PMID:23700467|PMID:25157968|PMID:25741868|PMID:27081525|PMID:27993330|PMID:28492532|PMID:8187091|PMID:8381579|PMID:9824584 12295046 APC APC regulator of WNT signaling pathway gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:736624 D RGD:9068941 20200609 RGD DNA,protein:LOH,decreased expression: : PMID:10426194|REF_RGD_ID:7242060 12295046 APC APC regulator of WNT signaling pathway gene DOID:4450 renal cell carcinoma onset ISO RGD:10166 D RGD:9068941 20200609 RGD PMID:16116480|REF_RGD_ID:7242056 12295046 APC APC regulator of WNT signaling pathway gene DOID:4450 renal cell carcinoma severity ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:LOH: : PMID:15203750|REF_RGD_ID:7242059 12295046 APC APC regulator of WNT signaling pathway gene DOID:4927 Klatskin's tumor ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klatskin tumor PMID:25741868|PMID:28492532 12295046 APC APC regulator of WNT signaling pathway gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:736624 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intrahepatic cholangiocarcinoma PMID:24728327|PMID:25479140|PMID:25741868|PMID:26467025|PMID:26530882|PMID:28135048|PMID:28195569|PMID:28492532|PMID:32390703 12295046 APC APC regulator of WNT signaling pathway gene DOID:4947 cholangiocarcinoma ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:15467712|REF_RGD_ID:2317198 12295046 APC APC regulator of WNT signaling pathway gene DOID:4947 cholangiocarcinoma ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity PMID:10212000|REF_RGD_ID:2317205 12295046 APC APC regulator of WNT signaling pathway gene DOID:630 genetic disease ISO RGD:736624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12295046 APC APC regulator of WNT signaling pathway gene DOID:657 adenoma ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10383901|PMID:12034317|PMID:19092804|PMID:30188895|PMID:9111214 12295046 APC APC regulator of WNT signaling pathway gene DOID:657 adenoma ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:frameshift mutations, nonsense mutations:exon:multiple (human) PMID:11677205|REF_RGD_ID:2317202 12295046 APC APC regulator of WNT signaling pathway gene DOID:684 hepatocellular carcinoma ISO RGD:736624 D RGD:7240710 20180130 OMIM 12295046 APC APC regulator of WNT signaling pathway gene DOID:684 hepatocellular carcinoma ISO RGD:736624 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:11466687|PMID:1316610|PMID:15311282|PMID:17293347|PMID:22135120|PMID:24728327|PMID:25479140|PMID:25741868|PMID:26530882|PMID:27081525|PMID:28135048|PMID:28195569|PMID:28492532|PMID:8381579|PMID:9824584 12295046 APC APC regulator of WNT signaling pathway gene DOID:684 hepatocellular carcinoma ISO RGD:736624 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:11466687|PMID:1316610|PMID:15311282|PMID:17293347|PMID:22135120|PMID:24728327|PMID:25479140|PMID:25741868|PMID:26467025|PMID:26530882|PMID:27081525|PMID:28135048|PMID:28195569|PMID:28492532|PMID:32390703|PMID:8381579|PMID:9824584 12295046 APC APC regulator of WNT signaling pathway gene DOID:687 hepatoblastoma ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:8764128 12295046 APC APC regulator of WNT signaling pathway gene DOID:9000011 Gallbladder Neoplasms ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:15447999|REF_RGD_ID:2317199 12295046 APC APC regulator of WNT signaling pathway gene DOID:9000217 Stomach Neoplasms ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:25741868|PMID:26467025|PMID:26900293|PMID:26976419|PMID:28380452|PMID:28492532|PMID:29237405|PMID:32658311 12295046 APC APC regulator of WNT signaling pathway gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9111214 12295046 APC APC regulator of WNT signaling pathway gene DOID:9001039 Leukocytosis ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 12295046 APC APC regulator of WNT signaling pathway gene DOID:9001441 Adenomatous Polyps ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12810952 12295046 APC APC regulator of WNT signaling pathway gene DOID:9001515 Angioma Serpiginosum, Autosomal Dominant ISO RGD:736624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angioma serpiginosum, autosomal dominant PMID:25741868|PMID:28492532 12295046 APC APC regulator of WNT signaling pathway gene DOID:9001642 Intestinal Polyps ISO RGD:736624 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:12189188|PMID:14991580|PMID:15063141|PMID:26262998|PMID:31715269|PMID:8561861 12295046 APC APC regulator of WNT signaling pathway gene DOID:9002221 Hyperplasia ISO RGD:10166 D RGD:9068941 20200609 RGD PMID:17596282|REF_RGD_ID:2317191 12295046 APC APC regulator of WNT signaling pathway gene DOID:9002232 Attenuated Adenomatous Polyposis Coli ISO RGD:736624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brain tumor-polyposis syndrome 2 PMID:11317365|PMID:1316610|PMID:1324223|PMID:15108288|PMID:17963004|PMID:20223039|PMID:20685668|PMID:25741868|PMID:28492532|PMID:28944238|PMID:31062380|PMID:7661930|PMID:8990002|PMID:9950360 12295046 APC APC regulator of WNT signaling pathway gene DOID:9002245 Intestinal Neoplasms ISO RGD:10166 D RGD:9068941 20200609 RGD PMID:16959882|PMID:8090754|REF_RGD_ID:6484212|REF_RGD_ID:7242058 12295046 APC APC regulator of WNT signaling pathway gene DOID:9002245 Intestinal Neoplasms ISO RGD:2123 D RGD:9068941 20201211 RGD PMID:17360473|REF_RGD_ID:1601201 12295046 APC APC regulator of WNT signaling pathway gene DOID:9002245 Intestinal Neoplasms ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14706516|PMID:16962818|PMID:19092804|PMID:26335331|PMID:27840820|PMID:9111214 12295046 APC APC regulator of WNT signaling pathway gene DOID:9002304 Prostatic Neoplasms ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17363566|PMID:29610475 12295046 APC APC regulator of WNT signaling pathway gene DOID:9002720 Splenomegaly ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 12295046 APC APC regulator of WNT signaling pathway gene DOID:9002722 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach ISO RGD:736624 D RGD:7240710 20210303 OMIM 12295046 APC APC regulator of WNT signaling pathway gene DOID:9002722 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach ISO RGD:736624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma and proximal polyposis of the stomach PMID:10083733|PMID:10094547|PMID:10713886|PMID:11748858|PMID:11933206|PMID:12007223|PMID:12173026|PMID:1324223|PMID:15024739|PMID:15108288|PMID:16088911|PMID:16292097|PMID:16317745|PMID:17411426|PMID:18433509|PMID:1944466|PMID:20223039|PMID:20685668|PMID:20924072|PMID:21813476|PMID:22027476|PMID:25741868|PMID:26300997|PMID:26446593|PMID:26467025|PMID:27087319|PMID:27343414|PMID:28492532|PMID:28533537|PMID:29112017|PMID:29141268|PMID:29968043|PMID:30584346|PMID:31159747|PMID:31409086|PMID:33242120|PMID:8381579|PMID:8990002|PMID:9950360 12295046 APC APC regulator of WNT signaling pathway gene DOID:9002928 Colonic Neoplasms ISO RGD:736624 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:17963004|PMID:20223039|PMID:20685668|PMID:25525159|PMID:25741868|PMID:28492532|PMID:7959691 12295046 APC APC regulator of WNT signaling pathway gene DOID:9003291 Aggressive Fibromatosis ISO RGD:736624 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:11816139 12295046 APC APC regulator of WNT signaling pathway gene DOID:9003566 Mesothelioma ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659810 12295046 APC APC regulator of WNT signaling pathway gene DOID:9004265 Endometrioid Carcinomas ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:hypermethylation: (human) PMID:18570730|REF_RGD_ID:13432144 12295046 APC APC regulator of WNT signaling pathway gene DOID:9004271 Colonic Polyps ISO RGD:2123 D RGD:9068941 20201211 RGD PMID:17360473|REF_RGD_ID:1601201 12295046 APC APC regulator of WNT signaling pathway gene DOID:9004351 Digestive System Neoplasms ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:missense mutation, insertion, loss of heterozygosity PMID:9369932|REF_RGD_ID:2317206 12295046 APC APC regulator of WNT signaling pathway gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12295046 APC APC regulator of WNT signaling pathway gene DOID:9004594 Jaw Neoplasms ISO RGD:2123 D RGD:9068941 20201211 RGD PMID:17360473|REF_RGD_ID:1601201 12295046 APC APC regulator of WNT signaling pathway gene DOID:9005100 Aberrant Crypt Foci ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14507667 12295046 APC APC regulator of WNT signaling pathway gene DOID:9005172 Lung Neoplasms ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18337602 12295046 APC APC regulator of WNT signaling pathway gene DOID:9006031 Abdominal Fibromatosis ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10686957 12295046 APC APC regulator of WNT signaling pathway gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis PMID:28492532 12295046 APC APC regulator of WNT signaling pathway gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297660 12295046 APC APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10598803|PMID:10612827|PMID:10646887|PMID:10666372|PMID:10669993|PMID:10679643|PMID:10713886|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11466687|PMID:11551102|PMID:11606402|PMID:11707392|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11768389|PMID:11818965|PMID:11839722|PMID:11852337|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12486240|PMID:12494469|PMID:12503191|PMID:12533824|PMID:12581900|PMID:12702169|PMID:12721244|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1319838|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15133491|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:16680592|PMID:1678319|PMID:16875934|PMID:16883523|PMID:16944273|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17169185|PMID:17230660|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17576681|PMID:17604324|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18166348|PMID:18199528|PMID:18343606|PMID:18369740|PMID:18387968|PMID:18433509|PMID:18487285|PMID:18612690|PMID:18629394|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19279422|PMID:19331226|PMID:19336753|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19506109|PMID:19531215|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20033787|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20682701|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21520333|PMID:21643010|PMID:2164769|PMID:21653199|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995949|PMID:22000517|PMID:22027476|PMID:22135120|PMID:22150579|PMID:22164339|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22585170|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22799487|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22863191|PMID:22864254|PMID:22875147|PMID:22941256|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23244118|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23575299|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23715166|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24506336|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24618431|PMID:24651453|PMID:24664542|PMID:2472832|PMID:24728327|PMID:24735542|PMID:24750145|PMID:24755471|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25676610|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25801821|PMID:25815427|PMID:25819062 12295046 APC APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25832318|PMID:25925381|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26414517|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26511139|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27282352|PMID:27284491|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28301460|PMID:28380452|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28576136|PMID:28608266|PMID:28663347|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:28891274|PMID:28944238|PMID:29029407|PMID:29050249|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29562902|PMID:29641532|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29753700|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30239046|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31113927|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31547467|PMID:31552911|PMID:31702654|PMID:31703593|PMID:31780696|PMID:31921681|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32251017|PMID:32283892|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33242120|PMID:33332384|PMID:33436027|PMID:33606809|PMID:33646313|PMID:33773808|PMID:33788735|PMID:35142982|PMID:7490101|PMID:7562975|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7959691|PMID:8103406|PMID:8111410|PMID:8125478|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8252631|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8940262|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9375853|PMID:9382065|PMID:9452101|PMID:9487968|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360 12295046 APC APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9973276 12295046 APC APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10598803|PMID:10646887|PMID:10666372|PMID:10669993|PMID:10679643|PMID:10713886|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11466687|PMID:11551102|PMID:11606402|PMID:11707392|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11768389|PMID:11818965|PMID:11839722|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12486240|PMID:12494469|PMID:12503191|PMID:12533824|PMID:12581900|PMID:12702169|PMID:12721244|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1319838|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15133491|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:16680592|PMID:1678319|PMID:16875934|PMID:16883523|PMID:16944273|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17169185|PMID:17230660|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17576681|PMID:17604324|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18166348|PMID:18199528|PMID:18343606|PMID:18369740|PMID:18387968|PMID:18433509|PMID:18487285|PMID:18612690|PMID:18629394|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19279422|PMID:19331226|PMID:19336753|PMID:19347965|PMID:19409520|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19506109|PMID:19531215|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20682701|PMID:2068566|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21520333|PMID:21643010|PMID:2164769|PMID:21653199|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995949|PMID:22000517|PMID:22027476|PMID:22135120|PMID:22150579|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22585170|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22799487|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22863191|PMID:22864254|PMID:22864938|PMID:22875147|PMID:22941256|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23244118|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23571587|PMID:23575299|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23715166|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24506336|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24618431|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:24750145|PMID:24755471|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25338684|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25801821|PMID:25815427|PMID:25819062|PMID:25832318|PMID:25925381 12295046 APC APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27260402|PMID:27282352|PMID:27284491|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28380452|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28576136|PMID:28608266|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29485843|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29562902|PMID:29596542|PMID:29641532|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29753700|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30239046|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31113927|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31547467|PMID:31552911|PMID:31702654|PMID:31703593|PMID:31780696|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32251017|PMID:32283892|PMID:32390703|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32829589|PMID:32854451|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33011440|PMID:33193653|PMID:33242120|PMID:33332384|PMID:33436027|PMID:33606809|PMID:33646313|PMID:33773808|PMID:33788735|PMID:33875564|PMID:34271781|PMID:34301788|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34754157|PMID:35142982|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7959691|PMID:8103406|PMID:8111410|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819 12295046 APC APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 12295046 APC APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27260402|PMID:27282352|PMID:27284491|PMID:27302369|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28380452|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28576136|PMID:28608266|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29485843|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29562902|PMID:29596542|PMID:29641532|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29753700|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30239046|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31113927|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31547467|PMID:31552911|PMID:31702654|PMID:31703593|PMID:31780696|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32251017|PMID:32283892|PMID:32390703|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32829589|PMID:32854451|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33011440|PMID:33193653|PMID:33242120|PMID:33332384|PMID:33436027|PMID:33606809|PMID:33646313|PMID:33773808|PMID:33788735|PMID:33875564|PMID:34271781|PMID:34301788|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34754157|PMID:35128723|PMID:35142982|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7959691|PMID:8103406|PMID:8111410|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8940262|PMID:8941012|PMID:8956059 12295046 APC APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 12295046 APC APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27260402|PMID:27282352|PMID:27284491|PMID:27302369|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28380452|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28576136|PMID:28608266|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29485843|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29562902|PMID:29596542|PMID:29641532|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29753700|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30239046|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31113927|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31547467|PMID:31552911|PMID:31702654|PMID:31703593|PMID:31780696|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32251017|PMID:32283892|PMID:32390703|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32829589|PMID:32854451|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33011440|PMID:33193653|PMID:33242120|PMID:33332384|PMID:33436027|PMID:33606809|PMID:33646313|PMID:33773808|PMID:33788735|PMID:33875564|PMID:34271781|PMID:34301788|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34754157|PMID:35128723|PMID:35142982|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7959691|PMID:8103406|PMID:8111410|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8940262|PMID:8941012 12295046 APC APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 12295046 APC APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10598803|PMID:10612827|PMID:10634400|PMID:10646887|PMID:10666372|PMID:10669993|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10830991|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11355315|PMID:11466687|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11707392|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11754114|PMID:11768389|PMID:11818965|PMID:11823972|PMID:11839722|PMID:11852337|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12486240|PMID:12494469|PMID:12503191|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12721244|PMID:12894596|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1319838|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14522379|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15654777|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16111973|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:16478792|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:16680592|PMID:1678319|PMID:16875934|PMID:16944273|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17169185|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17576681|PMID:17604324|PMID:17665205|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18166348|PMID:18199528|PMID:18224684|PMID:18343606|PMID:18369740|PMID:18387968|PMID:18393237|PMID:1843350|PMID:18433509|PMID:18487285|PMID:18612690|PMID:18629394|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19279422|PMID:19307944|PMID:19331226|PMID:19336753|PMID:19347965|PMID:19409520|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19506109|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:19995397|PMID:20007843|PMID:20033787|PMID:20223039|PMID:20232483|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20513532|PMID:20564245|PMID:20649969|PMID:20682701|PMID:2068566|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21270786|PMID:21315632|PMID:21520333|PMID:21533174|PMID:21598003|PMID:21643010|PMID:2164769|PMID:21653199|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21909382|PMID:21970370|PMID:21995949|PMID:22000517|PMID:22027476|PMID:22135120|PMID:22150579|PMID:22164339|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22447671|PMID:22585170|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22799487|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22863191|PMID:22864254|PMID:22864938|PMID:22875147|PMID:22941256|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23054214|PMID:23085758|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23244118|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23575299|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23715166|PMID:23771323|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24233542|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24506336|PMID:24518971|PMID:24549056|PMID:24573554 12295046 APC APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10598803|PMID:10612827|PMID:10634400|PMID:10646887|PMID:10666372|PMID:10669993|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10830991|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11355315|PMID:11466687|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11707392|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11754114|PMID:11768389|PMID:11818965|PMID:11823972|PMID:11839722|PMID:11852337|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12486240|PMID:12494469|PMID:12503191|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12721244|PMID:12894596|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1319838|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14522379|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15654777|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16111973|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:16478792|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:16680592|PMID:1678319|PMID:16875934|PMID:16944273|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17169185|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17576681|PMID:17604324|PMID:17665205|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18166348|PMID:18199528|PMID:18224684|PMID:18343606|PMID:18369740|PMID:18387968|PMID:18393237|PMID:1843350|PMID:18433509|PMID:18487285|PMID:18612690|PMID:18629394|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19279422|PMID:19307944|PMID:19331226|PMID:19336753|PMID:19347965|PMID:19409520|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19506109|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:19995397|PMID:20007843|PMID:20033787|PMID:20223039|PMID:20232483|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20513532|PMID:20564245|PMID:20649969|PMID:20682701|PMID:2068566|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21315632|PMID:21520333|PMID:21533174|PMID:21598003|PMID:21643010|PMID:2164769|PMID:21653199|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21909382|PMID:21970370|PMID:21995949|PMID:22000517|PMID:22027476|PMID:22135120|PMID:22150579|PMID:22164339|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22447671|PMID:22585170|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22799487|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22863191|PMID:22864254|PMID:22864938|PMID:22875147|PMID:22941256|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23054214|PMID:23085758|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23244118|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23571587|PMID:23575299|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23715166|PMID:23771323|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24233542|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24506336|PMID:24518971|PMID:24549056|PMID:24573554 12295046 APC APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24599579|PMID:24618431|PMID:24651015|PMID:24651453|PMID:24664542|PMID:2472832|PMID:24728327|PMID:24735542|PMID:24750145|PMID:24755471|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25665006|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25801821|PMID:25815427|PMID:25819062|PMID:25832318|PMID:25925381|PMID:25938944|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26414517|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26511139|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26684191|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26934580|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27260402|PMID:27282352|PMID:27284491|PMID:27302369|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27449473|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28002797|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28349240|PMID:28380452|PMID:28413499|PMID:28423518|PMID:28481359|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28576136|PMID:28608266|PMID:28640387|PMID:28663347|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29109117|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29150975|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29251405|PMID:29360161|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29458332|PMID:29478780|PMID:29485843|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29518763|PMID:29535845|PMID:29562902|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29753700|PMID:29754767|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30006736|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30239046|PMID:30256815|PMID:30256826|PMID:30267214|PMID:30287922|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30523670|PMID:30569724|PMID:30580288|PMID:30584346|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30809968|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31175917 12295046 APC APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31186761|PMID:31269945|PMID:31273614|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31547467|PMID:31552911|PMID:31702654|PMID:31703593|PMID:31744909|PMID:31780696|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32123317|PMID:32251017|PMID:32255556|PMID:32283892|PMID:32390703|PMID:32543227|PMID:32547059|PMID:32547938|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32829589|PMID:32854451|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32984025|PMID:32992489|PMID:32994724|PMID:33009979|PMID:33011440|PMID:33193653|PMID:33242120|PMID:33279946|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33606809|PMID:33646313|PMID:33773808|PMID:33788735|PMID:33821390|PMID:33875564|PMID:33977078|PMID:34034685|PMID:34106356|PMID:34250417|PMID:34271781|PMID:34301788|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34479915|PMID:34545850|PMID:34754157|PMID:34855061|PMID:34897210|PMID:35098669|PMID:35128723|PMID:35142982|PMID:36988593|PMID:7485167|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7661930|PMID:7746201|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7951218|PMID:7959691|PMID:8020934|PMID:8103406|PMID:8111410|PMID:8162022|PMID:8162051|PMID:8187091|PMID:8252630|PMID:8252631|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8594558|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8910893|PMID:8940262|PMID:8940264|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9067764|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9452101|PMID:9476377|PMID:9487968|PMID:9494520|PMID:950360|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9765274|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 12295046 APC APC regulator of WNT signaling pathway gene DOID:9007188 Liver Neoplasms ISO RGD:736624 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neoplasm of the liver PMID:16569251|PMID:18199528|PMID:21859464|PMID:22703879|PMID:23159591|PMID:24728327|PMID:25186627|PMID:25479140|PMID:25741868|PMID:25980754|PMID:26173098|PMID:26252958|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26837502|PMID:26845104|PMID:26976419|PMID:27121310|PMID:28135048|PMID:28135145|PMID:28195569|PMID:28492532|PMID:32088909|PMID:32390703|PMID:32984025 12295046 APC APC regulator of WNT signaling pathway gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092804|PMID:21967605 12295046 APC APC regulator of WNT signaling pathway gene DOID:9007715 Endometrial Neoplasms ISO RGD:10166 D RGD:9068941 20200609 RGD PMID:24474556|REF_RGD_ID:13524584 12295046 APC APC regulator of WNT signaling pathway gene DOID:9008296 Eye Abnormalities ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16938888 12295046 APC APC regulator of WNT signaling pathway gene DOID:9008443 Colorectal Neoplasms ISO RGD:736624 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10646887|PMID:10737795|PMID:12374230|PMID:12581900|PMID:12702169|PMID:1316610|PMID:1338764|PMID:1338904|PMID:14961559|PMID:15108286|PMID:15108288|PMID:1528264|PMID:15311282|PMID:16134147|PMID:1651563|PMID:17293347|PMID:17411426|PMID:17704924|PMID:17963004|PMID:18433509|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19347965|PMID:20007843|PMID:20223039|PMID:20685668|PMID:20924072|PMID:21110124|PMID:21901162|PMID:22135120|PMID:2281069|PMID:22810696|PMID:22848674|PMID:22987206|PMID:23159591|PMID:23204322|PMID:23561487|PMID:23700467|PMID:24518971|PMID:24651453|PMID:24861525|PMID:25157968|PMID:25741868|PMID:25832318|PMID:26446593|PMID:26467025|PMID:26613750|PMID:26625971|PMID:27081525|PMID:28251689|PMID:28492532|PMID:29122597|PMID:29367705|PMID:29368261|PMID:30006736|PMID:31062380|PMID:31283021|PMID:7524601|PMID:7833931|PMID:8103406|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8941012|PMID:8990002|PMID:9494520|PMID:9824584|PMID:9950360 12295046 APC APC regulator of WNT signaling pathway gene DOID:9008952 Breast Cancer, Familial ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:20301519|PMID:28492532 12295046 APC APC regulator of WNT signaling pathway gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24430131 12295046 APC APC regulator of WNT signaling pathway gene DOID:9009045 Gardner Syndrome ISO RGD:736624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gardner syndrome PMID:10094547|PMID:10982189|PMID:11317365|PMID:11466687|PMID:12007223|PMID:12173026|PMID:1316610|PMID:14633595|PMID:15024739|PMID:15311282|PMID:16134147|PMID:16317745|PMID:1651563|PMID:17135589|PMID:17293347|PMID:17963004|PMID:18199528|PMID:18433509|PMID:20223039|PMID:20513532|PMID:20649969|PMID:20685668|PMID:20924072|PMID:21643010|PMID:2164769|PMID:21779980|PMID:21859464|PMID:22000517|PMID:22135120|PMID:22703879|PMID:22987206|PMID:23159591|PMID:23561487|PMID:24033266|PMID:24728327|PMID:2478327|PMID:24790607|PMID:24841357|PMID:25142776|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26467025|PMID:26613750|PMID:26845104|PMID:26917275|PMID:27081525|PMID:27435373|PMID:27930734|PMID:28492532|PMID:30897307|PMID:7485167|PMID:8162051|PMID:8381579|PMID:8381580|PMID:8594558|PMID:9375853|PMID:9487968|PMID:9824584|PMID:9916927 12295046 APC APC regulator of WNT signaling pathway gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor of small intestine PMID:25741868|PMID:26530882|PMID:28492532 12295046 APC APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:7240710 20200226 OMIM 12295046 APC APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18844223|PMID:19029688|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:30152102|PMID:30267214|PMID:30426508|PMID:30487145|PMID:30814645|PMID:30897307|PMID:30980208|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31702654|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 12295046 APC APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31702654|PMID:31942411|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33332384|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 12295046 APC APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27009842|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31702654|PMID:31942411|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33332384|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 12295046 APC APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31702654|PMID:31942411|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33309985|PMID:33332384|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 12295046 APC APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12537656|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19701947|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20685668|PMID:20924072|PMID:21153778|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27600092|PMID:27621404|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31702654|PMID:31942411|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 12295046 APC APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12537656|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19701947|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20434453|PMID:20685668|PMID:20924072|PMID:21153778|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27600092|PMID:27621404|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31702654|PMID:31942411|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8940264|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 12295046 APC APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12537656|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19701947|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20434453|PMID:20685668|PMID:20924072|PMID:21153778|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22447671|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27600092|PMID:27621404|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31702654|PMID:31942411|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33773808|PMID:35142982|PMID:36988593|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8940264|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 12295067 TAF9B TATA-box binding protein associated factor 9b gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12295067 TAF9B TATA-box binding protein associated factor 9b gene DOID:1059 intellectual disability ISO RGD:1351331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12295067 TAF9B TATA-box binding protein associated factor 9b gene DOID:12849 autistic disorder ISO RGD:1351331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12295067 TAF9B TATA-box binding protein associated factor 9b gene DOID:630 genetic disease ISO RGD:1351331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12295078 DNAH11 dynein axonemal heavy chain 11 gene DOID:0050144 Kartagener syndrome ISO RGD:1620923 D RGD:9068941 20220825 MouseDO 12295078 DNAH11 dynein axonemal heavy chain 11 gene DOID:0050144 Kartagener syndrome susceptibility ISO RGD:1348566 D RGD:9068941 20200609 RGD DNA:nonsense mutation, missense mutation:R2852X, R3004Q PMID:12142464|REF_RGD_ID:734893 12295078 DNAH11 dynein axonemal heavy chain 11 gene DOID:0050545 visceral heterotaxy ISO RGD:1620923 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 12295078 DNAH11 dynein axonemal heavy chain 11 gene DOID:0050651 atrioventricular septal defect ISO RGD:1620923 D RGD:9068941 20220825 MouseDO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 12295078 DNAH11 dynein axonemal heavy chain 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1348566 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12295078 DNAH11 dynein axonemal heavy chain 11 gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1348566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 12295078 DNAH11 dynein axonemal heavy chain 11 gene DOID:0110605 primary ciliary dyskinesia 7 ISO RGD:1348566 D RGD:7240710 20180130 OMIM 12295078 DNAH11 dynein axonemal heavy chain 11 gene DOID:0110605 primary ciliary dyskinesia 7 ISO RGD:1348566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 7 PMID:12142464|PMID:16199547|PMID:17576681|PMID:18022865|PMID:18616530|PMID:19187973|PMID:20301301|PMID:20513915|PMID:21917145|PMID:22102620|PMID:22184204|PMID:24033266|PMID:24450482|PMID:25741868|PMID:25802884|PMID:26139845|PMID:26729821|PMID:2690980|PMID:26909801|PMID:27637300|PMID:27637763|PMID:28492532|PMID:29467202|PMID:29997923|PMID:30067075|PMID:31040315|PMID:31507630|PMID:31607746|PMID:31772028|PMID:31879361|PMID:32502479|PMID:32622824|PMID:32633470|PMID:32860008|PMID:34008892|PMID:34298581|PMID:34513534|PMID:9536098|PMID:9585585 12295078 DNAH11 dynein axonemal heavy chain 11 gene DOID:12336 male infertility ISO RGD:1348566 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Male infertility PMID:22184204|PMID:25741868 12295078 DNAH11 dynein axonemal heavy chain 11 gene DOID:13088 periventricular leukomalacia ISO RGD:1348566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periventricular leukomalacia PMID:24033266|PMID:25741868|PMID:28492532 12295078 DNAH11 dynein axonemal heavy chain 11 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12295078 DNAH11 dynein axonemal heavy chain 11 gene DOID:5223 infertility ISO RGD:1348566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infertility PMID:28492532 12295078 DNAH11 dynein axonemal heavy chain 11 gene DOID:630 genetic disease ISO RGD:1348566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12295078 DNAH11 dynein axonemal heavy chain 11 gene DOID:674 cleft palate ISO RGD:1348566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:24033266|PMID:25741868|PMID:28492532 12295078 DNAH11 dynein axonemal heavy chain 11 gene DOID:9000528 Coronary Disease ISO RGD:1348566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19060911 12295078 DNAH11 dynein axonemal heavy chain 11 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1348566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:24033266|PMID:25741868|PMID:28492532 12295078 DNAH11 dynein axonemal heavy chain 11 gene DOID:9003370 Dyslipidemias ISO RGD:1348566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19060911 12295078 DNAH11 dynein axonemal heavy chain 11 gene DOID:9004657 Weight Gain ISO RGD:1348566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12295078 DNAH11 dynein axonemal heavy chain 11 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1348566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:18022865|PMID:20513915|PMID:21911699|PMID:22102620|PMID:22184204|PMID:22499950|PMID:22749724|PMID:23998934|PMID:24033266|PMID:24450482|PMID:25640679|PMID:25741868|PMID:25802884|PMID:26139845|PMID:26729821|PMID:2690980|PMID:26909801|PMID:27637300|PMID:27637763|PMID:28492532|PMID:29363216|PMID:29467202|PMID:29997923|PMID:30067075|PMID:30359267|PMID:30919572|PMID:31040315|PMID:31213628|PMID:31507630|PMID:31607746|PMID:31633846|PMID:31772028|PMID:31879361|PMID:32367404|PMID:32502479|PMID:32622824|PMID:33240318|PMID:33577779|PMID:33715250|PMID:34008892|PMID:34210339|PMID:34513534|PMID:9536098 12295166 RBSN rabenosyn, RAB effector gene DOID:0060417 3p deletion syndrome ISO RGD:1313404 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12295166 RBSN rabenosyn, RAB effector gene DOID:630 genetic disease ISO RGD:1313404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12295196 SPRYD3 SPRY domain containing 3 gene DOID:630 genetic disease ISO RGD:1602855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12295229 CFAP65 cilia and flagella associated protein 65 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1606123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12295229 CFAP65 cilia and flagella associated protein 65 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1606123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12295229 CFAP65 cilia and flagella associated protein 65 gene DOID:0111918 spermatogenic failure 40 ISO RGD:1606123 D RGD:7240710 20191211 OMIM 12295229 CFAP65 cilia and flagella associated protein 65 gene DOID:0111918 spermatogenic failure 40 ISO RGD:1606123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 40 PMID:25741868|PMID:28552195|PMID:31413122|PMID:31501240|PMID:31571197 12295229 CFAP65 cilia and flagella associated protein 65 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1606123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12295229 CFAP65 cilia and flagella associated protein 65 gene DOID:10283 prostate cancer ISO RGD:1606123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12295229 CFAP65 cilia and flagella associated protein 65 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1606123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12295229 CFAP65 cilia and flagella associated protein 65 gene DOID:5419 schizophrenia ISO RGD:1606123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12295229 CFAP65 cilia and flagella associated protein 65 gene DOID:630 genetic disease ISO RGD:1606123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12295229 CFAP65 cilia and flagella associated protein 65 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12295264 GYG2 glycogenin 2 gene DOID:12849 autistic disorder ISO RGD:1344312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12295264 GYG2 glycogenin 2 gene DOID:630 genetic disease ISO RGD:1344312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12295264 GYG2 glycogenin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12295292 CTTN cortactin gene DOID:1059 intellectual disability ISO RGD:1352162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12295292 CTTN cortactin gene DOID:1749 squamous cell carcinoma ISO RGD:1352162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27148699 12295292 CTTN cortactin gene DOID:630 genetic disease ISO RGD:1352162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12295292 CTTN cortactin gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1352162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12295292 CTTN cortactin gene DOID:9005065 Leukoplakia ISO RGD:1352162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27148699 12295316 PGAP1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 12295316 PGAP1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:4621 holoprosencephaly ISO RGD:1619812 D RGD:9068941 20220825 MouseDO 12295316 PGAP1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:630 genetic disease ISO RGD:1605037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17711852|PMID:25741868|PMID:26050939|PMID:27848944|PMID:28492532 12295316 PGAP1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9002189 High Myopia ISO RGD:1605037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12295316 PGAP1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12295316 PGAP1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1605037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:25804403|PMID:26350515 12295316 PGAP1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9006299 Mental Retardation, Autosomal Recessive 42 ISO RGD:1605037 D RGD:7240710 20180130 OMIM 12295316 PGAP1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9006299 Mental Retardation, Autosomal Recessive 42 ISO RGD:1605037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 9 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FEATURES, SPASTICITY, AND BRAIN ABNORMALITIES PMID:16199547|PMID:17576681|PMID:17711852|PMID:24482476|PMID:25741868|PMID:25804403|PMID:25823418|PMID:26050939|PMID:26350515|PMID:27457812|PMID:27848944|PMID:28492532|PMID:34906502|PMID:9536098 12295348 MT-CO2 mitochondrially encoded cytochrome c oxidase II gene DOID:0080199 colorectal carcinoma treatment ISO RGD:621872 D RGD:9068941 20210611 RGD PMID:29229353|REF_RGD_ID:127284843 12295348 MT-CO2 mitochondrially encoded cytochrome c oxidase II gene DOID:10534 stomach cancer ISO RGD:1605433 D RGD:9068941 20210528 RGD human cells in mouse model;associated with mental depression; protein:increased expression:blood serum, stomach (mouse) PMID:31396300|REF_RGD_ID:126908003 12295348 MT-CO2 mitochondrially encoded cytochrome c oxidase II gene DOID:12858 Huntington's disease severity ISO RGD:1605433 D RGD:9068941 20200609 RGD PMID:20660112|REF_RGD_ID:13506651 12295348 MT-CO2 mitochondrially encoded cytochrome c oxidase II gene DOID:12930 dilated cardiomyopathy ISO RGD:1605433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24088041|PMID:26633545 12295348 MT-CO2 mitochondrially encoded cytochrome c oxidase II gene DOID:1596 depressive disorder ISO RGD:736071 D RGD:9068941 20210507 RGD protein:increased expression:blood serum, hippocampus (mouse) PMID:31396300|REF_RGD_ID:126908003 12295348 MT-CO2 mitochondrially encoded cytochrome c oxidase II gene DOID:3526 cerebral infarction ISO RGD:1605433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ischemic stroke 12295348 MT-CO2 mitochondrially encoded cytochrome c oxidase II gene DOID:3652 Leigh disease ISO RGD:1605433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:11799391|PMID:12612282|PMID:17637808|PMID:18337306|PMID:19398658|PMID:22241583|PMID:24931671|PMID:25741868|PMID:26467025|PMID:32313153 12295348 MT-CO2 mitochondrially encoded cytochrome c oxidase II gene DOID:3687 MELAS syndrome ISO RGD:1605433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12295348 MT-CO2 mitochondrially encoded cytochrome c oxidase II gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1605433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:10205264|PMID:10486321|PMID:11471180|PMID:11558799 12295348 MT-CO2 mitochondrially encoded cytochrome c oxidase II gene DOID:6419 tetralogy of Fallot ISO RGD:1605433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot 12295348 MT-CO2 mitochondrially encoded cytochrome c oxidase II gene DOID:700 mitochondrial metabolism disease ISO RGD:1605433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease 12295348 MT-CO2 mitochondrially encoded cytochrome c oxidase II gene DOID:769 neuroblastoma ISO RGD:1605433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15492235 12295348 MT-CO2 mitochondrially encoded cytochrome c oxidase II gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1605433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:32313153 12295348 MT-CO2 mitochondrially encoded cytochrome c oxidase II gene DOID:9000998 Brain Injuries ISO RGD:621872 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus PMID:11686499|REF_RGD_ID:2302298 12295348 MT-CO2 mitochondrially encoded cytochrome c oxidase II gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1605433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563825 12295348 MT-CO2 mitochondrially encoded cytochrome c oxidase II gene DOID:9007527 Mitochondrial Myopathy, Infantile, Transient ISO RGD:1605433 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: RESPIRATORY CHAIN DEFICIENCY, INFANTILE, TRANSIENT PMID:25741868 12295348 MT-CO2 mitochondrially encoded cytochrome c oxidase II gene DOID:9256 colorectal cancer ISO RGD:1605433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:13298683|PMID:9806551 12295348 MT-CO2 mitochondrially encoded cytochrome c oxidase II gene DOID:9352 type 2 diabetes mellitus ISO RGD:621872 D RGD:9068941 20200609 RGD mRNA:decreased expression:soleus PMID:14563825|REF_RGD_ID:2300410 12295348 MT-CO2 mitochondrially encoded cytochrome c oxidase II gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:621872 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 12295349 CFAP73 cilia and flagella associated protein 73 gene DOID:1059 intellectual disability ISO RGD:2311614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12295349 CFAP73 cilia and flagella associated protein 73 gene DOID:630 genetic disease ISO RGD:2311614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12295362 LOC100688778 uncharacterized LOC100688778 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12295362 LOC100688778 uncharacterized LOC100688778 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1350959 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 12295362 LOC100688778 uncharacterized LOC100688778 gene DOID:12849 autistic disorder ISO RGD:1350959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12295421 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1347847 D RGD:9068941 20200609 RGD PMID:19065664|REF_RGD_ID:8549498 12295421 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12295421 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:0081312 T-cell non-Hodgkin lymphoma treatment ISO RGD:732072 D RGD:9068941 20200609 RGD PMID:19951958|REF_RGD_ID:8549563 12295421 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:11476 osteoporosis ISO RGD:1347847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 PMID:24088041|PMID:26633545 12295421 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:12849 autistic disorder ISO RGD:1347847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12295421 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1347847 D RGD:9068941 20200609 RGD protein:increased expression:myocardium PMID:18362439|REF_RGD_ID:2298568 12295421 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:1612 breast cancer treatment ISO RGD:1347847 D RGD:9068941 20200609 RGD PMID:11748276|PMID:17438063|REF_RGD_ID:8549514|REF_RGD_ID:8549557 12295421 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:1793 pancreatic cancer treatment ISO RGD:1347847 D RGD:9068941 20200609 RGD PMID:11748276|REF_RGD_ID:8549514 12295421 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:2799 bronchiolitis obliterans ISO RGD:732072 D RGD:9068941 20200609 RGD PMID:17182591|REF_RGD_ID:4146242 12295421 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:2841 asthma ISO RGD:1347847 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21462799|REF_RGD_ID:8549521 12295421 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:2841 asthma ISO RGD:732072 D RGD:9068941 20200609 RGD PMID:17885690|REF_RGD_ID:4892649 12295421 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:2841 asthma ISO RGD:732072 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchus PMID:20383033|REF_RGD_ID:4892646 12295421 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:3310 atopic dermatitis ISO RGD:1347847 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21462799|REF_RGD_ID:8549521 12295421 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:3310 atopic dermatitis ISO RGD:732072 D RGD:9068941 20200609 RGD PMID:20971924|REF_RGD_ID:8549556 12295421 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:4481 allergic rhinitis ISO RGD:1347847 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21462799|REF_RGD_ID:8549521 12295421 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:4483 rhinitis ISO RGD:732072 D RGD:9068941 20200609 RGD PMID:17088137|REF_RGD_ID:4159171 12295421 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:5419 schizophrenia ISO RGD:1347847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12295421 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:552 pneumonia ISO RGD:1347847 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, fibroblast PMID:15161635|REF_RGD_ID:4890021 12295421 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1347847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12295421 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:6432 pulmonary hypertension ISO RGD:1347847 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20522789|REF_RGD_ID:4892612 12295421 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:9000998 Brain Injuries ISO RGD:1347847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 12295421 IL13RA2 interleukin 13 receptor subunit alpha 2 gene DOID:9452 fatty liver disease ISO RGD:620838 D RGD:9068941 20200609 RGD PMID:18802068|REF_RGD_ID:4145478 12295435 CES1 carboxylesterase 1 gene DOID:0080600 COVID-19 ISO RGD:1352960 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12295435 CES1 carboxylesterase 1 gene DOID:10534 stomach cancer severity ISO RGD:1352960 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 12295435 CES1 carboxylesterase 1 gene DOID:2559 opiate dependence ISO RGD:1352960 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12679808 12295435 CES1 carboxylesterase 1 gene DOID:3119 gastrointestinal system cancer disease_progression ISO RGD:1352960 D RGD:9068941 20220616 RGD DNA:SNP:cds:rs7187684|rs2244613 (human) PMID:33586000|REF_RGD_ID:152995283 12295435 CES1 carboxylesterase 1 gene DOID:3571 liver cancer treatment ISO RGD:70896 D RGD:9068941 20220616 RGD PMID:27523631|REF_RGD_ID:152995275 12295435 CES1 carboxylesterase 1 gene DOID:630 genetic disease ISO RGD:1352960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12295435 CES1 carboxylesterase 1 gene DOID:655 inherited metabolic disorder ISO RGD:1352960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18485328 12295435 CES1 carboxylesterase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1352960 D RGD:9068941 20220616 RGD mRNA, protein:decreased expression:liver tumor (human) PMID:19658107|REF_RGD_ID:152995279 12295435 CES1 carboxylesterase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1352960 D RGD:9068941 20220616 RGD protein:decreased expression:liver (human) PMID:24259486|REF_RGD_ID:152995276 12295435 CES1 carboxylesterase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352960 D RGD:9068941 20220616 RGD associated with tumor vascularization; protein:decreased expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 12295435 CES1 carboxylesterase 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1352960 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12773168 12295435 CES1 carboxylesterase 1 gene DOID:9000998 Brain Injuries ISO RGD:1352960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 12295435 CES1 carboxylesterase 1 gene DOID:9002282 Monocyte Esterase Deficiency ISO RGD:1352960 D RGD:7240710 20180130 OMIM 12295435 CES1 carboxylesterase 1 gene DOID:9002282 Monocyte Esterase Deficiency ISO RGD:1352960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DRUG METABOLISM, ALTERED, CES1-RELATED PMID:18485328|PMID:23111421|PMID:26817948|PMID:27614009 12295435 CES1 carboxylesterase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1352960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17114358|PMID:17311802 12295435 CES1 carboxylesterase 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1352960 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12679808|PMID:12773168 12295435 CES1 carboxylesterase 1 gene DOID:9256 colorectal cancer severity ISO RGD:1352960 D RGD:9068941 20220616 RGD associated with obesity;mRNA:increased expression:tumor (human) PMID:33878036|REF_RGD_ID:152995285 12295435 CES1 carboxylesterase 1 gene DOID:9256 colorectal cancer treatment ISO RGD:1352960 D RGD:9068941 20220616 RGD human cells in mouse model PMID:33878036|REF_RGD_ID:152995285 12295435 CES1 carboxylesterase 1 gene DOID:9970 obesity ISO RGD:1352960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20975297 12295453 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1320554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | ClinVar Annotator: match by term: Congenital disorder of glycosylation type II PMID:12684507|PMID:20813212|PMID:25741868|PMID:28492532|PMID:33644825 12295453 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:0070253 congenital disorder of glycosylation type IIa ISO RGD:1320554 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome type II PMID:12684507|PMID:28492532 12295453 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1320554 D RGD:7240710 20180130 OMIM 12295453 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1320554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I | ClinVar Annotator: match by term: Congenital disorder of glycosylation type II PMID:12684507|PMID:20813212|PMID:25741868|PMID:28492532|PMID:33644825 12295453 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1320554 D RGD:7240710 20180130 OMIM 12295453 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1320554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 14 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:12684507|PMID:20813212|PMID:23404334|PMID:25741868|PMID:28492532 12295453 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:1059 intellectual disability ISO RGD:1320554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12295453 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:12712 nephronophthisis ISO RGD:1320554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 12295453 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1320554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:21358634|PMID:28492532 12295453 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:3635 congenital myasthenic syndrome ISO RGD:1320554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12295453 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1320554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 12295453 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:630 genetic disease ISO RGD:1320554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12295459 PACSIN3 protein kinase C and casein kinase substrate in neurons 3 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1316456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12295459 PACSIN3 protein kinase C and casein kinase substrate in neurons 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1316456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 12295459 PACSIN3 protein kinase C and casein kinase substrate in neurons 3 gene DOID:1059 intellectual disability ISO RGD:1316456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12295459 PACSIN3 protein kinase C and casein kinase substrate in neurons 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1316456 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12295459 PACSIN3 protein kinase C and casein kinase substrate in neurons 3 gene DOID:630 genetic disease ISO RGD:1316456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12295486 HECA hdc homolog, cell cycle regulator gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1312483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12295486 HECA hdc homolog, cell cycle regulator gene DOID:630 genetic disease ISO RGD:1312483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12295494 ATAD1 ATPase family AAA domain containing 1 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1318420 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 12295494 ATAD1 ATPase family AAA domain containing 1 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1318420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 12295494 ATAD1 ATPase family AAA domain containing 1 gene DOID:0080581 hyperekplexia 4 ISO RGD:1318420 D RGD:7240710 20190315 OMIM 12295494 ATAD1 ATPase family AAA domain containing 1 gene DOID:0080581 hyperekplexia 4 ISO RGD:1318420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperekplexia 4 PMID:25741868|PMID:28180185|PMID:28492532|PMID:29390050|PMID:29659736|PMID:33134516 12295494 ATAD1 ATPase family AAA domain containing 1 gene DOID:630 genetic disease ISO RGD:1318420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12295518 AOC3 amine oxidase copper containing 3 gene DOID:10652 Alzheimer's disease severity ISO RGD:1347849 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17393059|REF_RGD_ID:2313919 12295518 AOC3 amine oxidase copper containing 3 gene DOID:10763 hypertension ISO RGD:1347849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23154672 12295518 AOC3 amine oxidase copper containing 3 gene DOID:10941 intracranial aneurysm ISO RGD:62058 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral artery PMID:18312104|REF_RGD_ID:2313912 12295518 AOC3 amine oxidase copper containing 3 gene DOID:13141 uveitis ISO RGD:62058 D RGD:9068941 20200609 RGD PMID:18032635|REF_RGD_ID:2313914 12295518 AOC3 amine oxidase copper containing 3 gene DOID:3627 aortic aneurysm ISO RGD:62058 D RGD:9068941 20200609 RGD PMID:16397885|REF_RGD_ID:2313928 12295518 AOC3 amine oxidase copper containing 3 gene DOID:6000 congestive heart failure severity ISO RGD:1347849 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11052858|REF_RGD_ID:2313827 12295518 AOC3 amine oxidase copper containing 3 gene DOID:630 genetic disease ISO RGD:1347849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12295518 AOC3 amine oxidase copper containing 3 gene DOID:784 chronic kidney disease ISO RGD:1347849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23154672 12295518 AOC3 amine oxidase copper containing 3 gene DOID:8947 diabetic retinopathy ISO RGD:1347849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:11522499|REF_RGD_ID:2313826 12295518 AOC3 amine oxidase copper containing 3 gene DOID:9001044 Choroidal Neovascularization ISO RGD:62058 D RGD:9068941 20200609 RGD PMID:18436961|REF_RGD_ID:2313908 12295518 AOC3 amine oxidase copper containing 3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1347849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14977883 12295518 AOC3 amine oxidase copper containing 3 gene DOID:9002457 Experimental Arthritis ISO RGD:62058 D RGD:9068941 20200609 RGD PMID:16947396|REF_RGD_ID:2313925 12295518 AOC3 amine oxidase copper containing 3 gene DOID:9003565 Paratuberculosis ISO RGD:1347849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22633222 12295518 AOC3 amine oxidase copper containing 3 gene DOID:9004009 Reperfusion Injury ISO RGD:62058 D RGD:9068941 20200609 RGD PMID:16339390|REF_RGD_ID:2313821 12295518 AOC3 amine oxidase copper containing 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1347849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14977883 12295518 AOC3 amine oxidase copper containing 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62058 D RGD:9068941 20200609 RGD PMID:19635478|REF_RGD_ID:2313819 12295518 AOC3 amine oxidase copper containing 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62058 D RGD:9068941 20200609 RGD protein:increased expression:kidney, serum PMID:2218072|REF_RGD_ID:2313828 12295518 AOC3 amine oxidase copper containing 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62350 D RGD:9068941 20200609 RGD PMID:12606817|REF_RGD_ID:2313824 12295518 AOC3 amine oxidase copper containing 3 gene DOID:9246 cerebral amyloid angiopathy ISO RGD:1347849 D RGD:9068941 20200609 RGD associated with Alzheimer Disease;protein:increased expression:brain PMID:17393059|REF_RGD_ID:2313919 12295518 AOC3 amine oxidase copper containing 3 gene DOID:9351 diabetes mellitus ISO RGD:1347849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23154672 12295518 AOC3 amine oxidase copper containing 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347849 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19336232|REF_RGD_ID:2313820 12295518 AOC3 amine oxidase copper containing 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:62058 D RGD:9068941 20200609 RGD PMID:12663473|REF_RGD_ID:2313823 12295518 AOC3 amine oxidase copper containing 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:62350 D RGD:9068941 20200609 RGD PMID:14656718|REF_RGD_ID:2313822 12295518 AOC3 amine oxidase copper containing 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1347849 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12466139|REF_RGD_ID:2313825 12295518 AOC3 amine oxidase copper containing 3 gene DOID:9970 obesity ISO RGD:62058 D RGD:9068941 20200609 RGD PMID:17977742|REF_RGD_ID:2313916 12295554 GUCA1B guanylate cyclase activator 1B gene DOID:0050444 infantile Refsum disease ISO RGD:1317826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12295554 GUCA1B guanylate cyclase activator 1B gene DOID:0050795 cone dystrophy ISO RGD:1317826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:15505030|PMID:25741868|PMID:28492532 12295554 GUCA1B guanylate cyclase activator 1B gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:1317826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy 3 PMID:15505030|PMID:25741868|PMID:28492532 12295554 GUCA1B guanylate cyclase activator 1B gene DOID:0110382 retinitis pigmentosa 48 ISO RGD:1317826 D RGD:7240710 20180130 OMIM 12295554 GUCA1B guanylate cyclase activator 1B gene DOID:0110382 retinitis pigmentosa 48 ISO RGD:1317826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 48 PMID:15452722|PMID:15505030|PMID:22025579|PMID:25741868|PMID:26161267|PMID:28492532|PMID:33812995 12295554 GUCA1B guanylate cyclase activator 1B gene DOID:10584 retinitis pigmentosa ISO RGD:1317826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15452722|PMID:15505030|PMID:22025579|PMID:25741868|PMID:26161267|PMID:28492532 12295554 GUCA1B guanylate cyclase activator 1B gene DOID:10584 retinitis pigmentosa ISO RGD:1317826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:15452722|PMID:15505030|PMID:22025579|PMID:25741868|PMID:26161267|PMID:28492532|PMID:33812995 12295554 GUCA1B guanylate cyclase activator 1B gene DOID:14791 Leber congenital amaurosis ISO RGD:1317826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25445212|PMID:28492532 12295554 GUCA1B guanylate cyclase activator 1B gene DOID:630 genetic disease ISO RGD:1317826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12295554 GUCA1B guanylate cyclase activator 1B gene DOID:905 Zellweger syndrome ISO RGD:1317826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12295566 PEX7 peroxisomal biogenesis factor 7 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1318278 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12295566 PEX7 peroxisomal biogenesis factor 7 gene DOID:0110851 rhizomelic chondrodysplasia punctata type 1 ISO RGD:1318278 D RGD:7240710 20180130 OMIM 12295566 PEX7 peroxisomal biogenesis factor 7 gene DOID:0110851 rhizomelic chondrodysplasia punctata type 1 ISO RGD:1318278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 1 PMID:10083738|PMID:10527683|PMID:10673331|PMID:11756410|PMID:11781871|PMID:12054588|PMID:12325024|PMID:12522768|PMID:14974078|PMID:16199547|PMID:17325280|PMID:17576681|PMID:1773541|PMID:20145307|PMID:20301447|PMID:21465523|PMID:21990100|PMID:22008564|PMID:22057399|PMID:23352163|PMID:23572185|PMID:24172221|PMID:25741868|PMID:25800479|PMID:25851898|PMID:26408048|PMID:26467025|PMID:26587300|PMID:28492532|PMID:8295403|PMID:9090381|PMID:9090382|PMID:9090383|PMID:9472033|PMID:9536098|PMID:9686382 12295566 PEX7 peroxisomal biogenesis factor 7 gene DOID:0111955 immunodeficiency 27A ISO RGD:1318278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 12295566 PEX7 peroxisomal biogenesis factor 7 gene DOID:10582 Refsum disease ISO RGD:1318278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phytanic acid storage disease PMID:10083738|PMID:10673331|PMID:11756410|PMID:11781871|PMID:12325024|PMID:12522768|PMID:14974078|PMID:1773541|PMID:20301447|PMID:21465523|PMID:21990100|PMID:22008564|PMID:23572185|PMID:25741868|PMID:25800479|PMID:25851898|PMID:26467025|PMID:26587300|PMID:28492532|PMID:9090381|PMID:9090382|PMID:9090383|PMID:9686382 12295566 PEX7 peroxisomal biogenesis factor 7 gene DOID:10582 Refsum disease ISO RGD:1318278 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Phytanic acid storage disease PMID:10083738|PMID:10673331|PMID:11756410|PMID:11781871|PMID:12325024|PMID:12522768|PMID:14974078|PMID:16199547|PMID:17576681|PMID:1773541|PMID:20301447|PMID:21465523|PMID:21990100|PMID:22008564|PMID:23572185|PMID:25741868|PMID:25800479|PMID:25851898|PMID:26408048|PMID:26467025|PMID:26587300|PMID:28492532|PMID:9090381|PMID:9090382|PMID:9090383|PMID:9536098|PMID:9686382 12295566 PEX7 peroxisomal biogenesis factor 7 gene DOID:1059 intellectual disability ISO RGD:1318278 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12295566 PEX7 peroxisomal biogenesis factor 7 gene DOID:2580 rhizomelic chondrodysplasia punctata ISO RGD:1318278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondrodysplasia punctata rhizomelic form | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata PMID:10083738|PMID:10527683|PMID:10673331|PMID:11756410|PMID:11781871|PMID:12054588|PMID:12325024|PMID:12522768|PMID:14974078|PMID:17325280|PMID:17576681|PMID:1773541|PMID:20145307|PMID:20301447|PMID:21465523|PMID:21990100|PMID:22008564|PMID:23572185|PMID:24172221|PMID:25741868|PMID:25800479|PMID:25851898|PMID:26408048|PMID:26467025|PMID:26587300|PMID:28492532|PMID:8295403|PMID:9090381|PMID:9090382|PMID:9090383|PMID:9472033|PMID:9536098|PMID:9686382 12295566 PEX7 peroxisomal biogenesis factor 7 gene DOID:630 genetic disease ISO RGD:1318278 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10527683|PMID:11756410|PMID:11781871|PMID:12054588|PMID:12325024|PMID:12522768|PMID:17576681|PMID:20145307|PMID:20301447|PMID:23572185|PMID:24172221|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9090381|PMID:9472033|PMID:9536098 12295566 PEX7 peroxisomal biogenesis factor 7 gene DOID:65 connective tissue disease ISO RGD:1318278 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:12325024|PMID:12522768|PMID:20301447|PMID:25741868|PMID:26467025|PMID:28492532 12295566 PEX7 peroxisomal biogenesis factor 7 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1318278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:26642243|PMID:28492532|PMID:29572183|PMID:8960473|PMID:9806040 12295566 PEX7 peroxisomal biogenesis factor 7 gene DOID:9006365 Adult Refsum Disease, 2 ISO RGD:1318278 D RGD:7240710 20180130 OMIM 12295566 PEX7 peroxisomal biogenesis factor 7 gene DOID:9006365 Adult Refsum Disease, 2 ISO RGD:1318278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B PMID:10083738|PMID:10527683|PMID:10673331|PMID:11756410|PMID:11781871|PMID:12054588|PMID:12325024|PMID:12522768|PMID:14974078|PMID:16199547|PMID:17325280|PMID:17576681|PMID:1773541|PMID:20145307|PMID:20301447|PMID:21465523|PMID:21990100|PMID:22008564|PMID:22057399|PMID:23352163|PMID:23462609|PMID:23572185|PMID:24172221|PMID:25640679|PMID:25741868|PMID:25800479|PMID:25851898|PMID:26408048|PMID:26467025|PMID:26587300|PMID:28492532|PMID:8295403|PMID:9090381|PMID:9090382|PMID:9090383|PMID:9472033|PMID:9536098|PMID:9686382 12295586 OLIG3 oligodendrocyte transcription factor 3 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1314358 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12295586 OLIG3 oligodendrocyte transcription factor 3 gene DOID:630 genetic disease ISO RGD:1314358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12295586 OLIG3 oligodendrocyte transcription factor 3 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1314358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:26642243|PMID:28492532|PMID:29572183|PMID:8960473|PMID:9806040 12295589 PLEKHG1 pleckstrin homology and RhoGEF domain containing G1 gene DOID:10283 prostate cancer ISO RGD:1321123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12295589 PLEKHG1 pleckstrin homology and RhoGEF domain containing G1 gene DOID:630 genetic disease ISO RGD:1321123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12295589 PLEKHG1 pleckstrin homology and RhoGEF domain containing G1 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1321123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 12295650 ADAMTSL5 ADAMTS like 5 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1313735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 12295650 ADAMTSL5 ADAMTS like 5 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1313735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12295650 ADAMTSL5 ADAMTS like 5 gene DOID:5339 cyclic hematopoiesis ISO RGD:1313735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12295650 ADAMTSL5 ADAMTS like 5 gene DOID:630 genetic disease ISO RGD:1313735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12295650 ADAMTSL5 ADAMTS like 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12295668 LIPT2 lipoyl(octanoyl) transferase 2 gene DOID:0050700 cardiomyopathy ISO RGD:2947567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12295668 LIPT2 lipoyl(octanoyl) transferase 2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:2947567 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12295668 LIPT2 lipoyl(octanoyl) transferase 2 gene DOID:0110223 Brugada syndrome 6 ISO RGD:2947567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 6 PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:19306396|PMID:22987075|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28747690 12295668 LIPT2 lipoyl(octanoyl) transferase 2 gene DOID:1059 intellectual disability ISO RGD:2947567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12295668 LIPT2 lipoyl(octanoyl) transferase 2 gene DOID:630 genetic disease ISO RGD:2947567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12295668 LIPT2 lipoyl(octanoyl) transferase 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:2947567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12295668 LIPT2 lipoyl(octanoyl) transferase 2 gene DOID:9000727 Syncope ISO RGD:2947567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syncope PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12295668 LIPT2 lipoyl(octanoyl) transferase 2 gene DOID:9007560 Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities ISO RGD:2947567 D RGD:7240710 20190315 OMIM 12295668 LIPT2 lipoyl(octanoyl) transferase 2 gene DOID:9007560 Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities ISO RGD:2947567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | ClinVar Annotator: match by term: LIPOYLTRANSFERASE 2 DEFICIENCY PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:19306396|PMID:22987075|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28747690|PMID:28757203 12295674 WDTC1 WD and tetratricopeptide repeats 1 gene DOID:630 genetic disease ISO RGD:1321224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12295701 SLC25A16 solute carrier family 25 member 16 gene DOID:0080683 nonsyndromic congenital nail disorder ISO RGD:1322697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nail disorder, nonsyndromic congenital PMID:28504827 12295701 SLC25A16 solute carrier family 25 member 16 gene DOID:630 genetic disease ISO RGD:1322697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12295701 SLC25A16 solute carrier family 25 member 16 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1322697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 12295714 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:1344590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lennox-Gastaut syndrome PMID:22539854|PMID:22750526|PMID:24407264|PMID:25741868|PMID:27066572|PMID:28492532 12295714 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:1344590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus 12295714 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1344590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25741868|PMID:28492532|PMID:33391346 12295714 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0080422 Dravet syndrome ISO RGD:1344590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy 12295714 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1344590 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25741868|PMID:28492532|PMID:33391346 12295714 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0111298 familial febrile seizures 8 ISO RGD:1344590 D RGD:7240710 20190605 OMIM 12295714 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0111298 familial febrile seizures 8 ISO RGD:1344590 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CONVULSIONS, FAMILIAL FEBRILE, 8 | ClinVar Annotator: match by term: Febrile seizures, familial, 8 PMID:11326274|PMID:11326275|PMID:11748509|PMID:12097483|PMID:12117362|PMID:15342642|PMID:15470132|PMID:15866052|PMID:16510738|PMID:16924025|PMID:17148443|PMID:17576681|PMID:18094250|PMID:22539854|PMID:22750526|PMID:23708187|PMID:23935098|PMID:24407264|PMID:25726841|PMID:25730860|PMID:25731747|PMID:25741868|PMID:26467025|PMID:27730413|PMID:27864268|PMID:28460589|PMID:28492532|PMID:29100083|PMID:29358611|PMID:31175295|PMID:31216405|PMID:33391346|PMID:9536098|PMID:9894880 12295714 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0112210 developmental and epileptic encephalopathy 74 ISO RGD:1344590 D RGD:7240710 20190515 OMIM 12295714 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0112210 developmental and epileptic encephalopathy 74 ISO RGD:1344590 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 74 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74 PMID:22539854|PMID:22750526|PMID:23708187|PMID:24407264|PMID:25726841|PMID:25730860|PMID:25741868|PMID:26467025|PMID:27730413|PMID:27864268|PMID:28460589|PMID:28492532|PMID:29100083|PMID:29358611|PMID:29778030|PMID:31216405|PMID:31785789|PMID:32371413 12295714 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:10485 esophageal atresia ISO RGD:1344590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12295714 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:1059 intellectual disability ISO RGD:1344590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23708187|PMID:25741868|PMID:27864268|PMID:28492532 12295714 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:13413 hepatic encephalopathy ISO RGD:1344590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15929193 12295714 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:13413 hepatic encephalopathy ISO RGD:61966 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:15929193|REF_RGD_ID:6480237 12295714 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:1574 alcohol use disorder ISO RGD:1344590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 12295714 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:1825 childhood absence epilepsy ISO RGD:1344590 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS6+2T>G (human) PMID:12117362|REF_RGD_ID:1358631 12295714 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:1826 epilepsy ISO RGD:1344590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizures PMID:23708187|PMID:25726841|PMID:25730860|PMID:27864268|PMID:28492532|PMID:29100083|PMID:29358611 12295714 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:1826 epilepsy ISO RGD:1344590 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12295714 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:16718694|PMID:22190369|PMID:24811917|PMID:28492532 12295714 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1344590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:17576681|PMID:23708187|PMID:25726841|PMID:25730860|PMID:27864268|PMID:28492532|PMID:29100083|PMID:29358611|PMID:9536098 12295714 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:630 genetic disease ISO RGD:1344590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11326274|PMID:11326275|PMID:11748509|PMID:12097483|PMID:12477709|PMID:15470132|PMID:16924025|PMID:17947380|PMID:20485450|PMID:20551311|PMID:22539854|PMID:22750526|PMID:23708187|PMID:24407264|PMID:24480790|PMID:24798517|PMID:25726841|PMID:25730860|PMID:25731747|PMID:25741868|PMID:26467025|PMID:27066572|PMID:27340224|PMID:27367160|PMID:27622563|PMID:27730413|PMID:27864268|PMID:27899622|PMID:28460589|PMID:28492532|PMID:29100083|PMID:29358611|PMID:29950725|PMID:30660939|PMID:31216405|PMID:32086284 12295714 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:670 amphetamine abuse ISO RGD:1344590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15772696 12295714 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:9002914 Familial Sudden Death ISO RGD:1344590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death in childhood PMID:25741868 12295714 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:9005485 Generalized Epilepsy with Febrile Seizures Plus, Type 3 ISO RGD:1344590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 3 PMID:23708187|PMID:25726841|PMID:25730860|PMID:27864268|PMID:28492532|PMID:29100083|PMID:29358611 12295714 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1344590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 12295714 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:9007956 Febrile Seizures ISO RGD:1344590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25362483 12295714 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:9009061 Childhood Absence Epilepsy 2 ISO RGD:1344590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence 2 | ClinVar Annotator: match by term: GABRG2-Related Disorder PMID:11326274|PMID:11326275|PMID:11748509|PMID:12097483|PMID:12117362|PMID:12477709|PMID:15342642|PMID:15470132|PMID:15866052|PMID:16199547|PMID:16510738|PMID:16924025|PMID:17148443|PMID:17576681|PMID:17947380|PMID:18094250|PMID:18414213|PMID:18566737|PMID:19261880|PMID:20485450|PMID:20551311|PMID:21714819|PMID:22190369|PMID:22539854|PMID:22750526|PMID:23708187|PMID:23720301|PMID:23935098|PMID:24407264|PMID:24480790|PMID:24798517|PMID:24811917|PMID:24848745|PMID:24874541|PMID:25640679|PMID:25726841|PMID:25730860|PMID:25731747|PMID:25741868|PMID:26005849|PMID:26467025|PMID:26633542|PMID:27066572|PMID:27334371|PMID:27340224|PMID:27367160|PMID:27622563|PMID:27730413|PMID:27762395|PMID:27864268|PMID:27899622|PMID:28460589|PMID:28492532|PMID:29100083|PMID:29358611|PMID:29655203|PMID:29778030|PMID:29950725|PMID:30557390|PMID:30660939|PMID:31004928|PMID:31175295|PMID:31216405|PMID:31471553|PMID:31785789|PMID:32086284|PMID:32371413|PMID:33004838|PMID:33391346|PMID:9536098 12295734 PPP4C protein phosphatase 4 catalytic subunit gene DOID:0060019 coronin-1A deficiency ISO RGD:1352781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:28492532 12295734 PPP4C protein phosphatase 4 catalytic subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1352781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12295734 PPP4C protein phosphatase 4 catalytic subunit gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1352781 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12295734 PPP4C protein phosphatase 4 catalytic subunit gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1352781 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12295734 PPP4C protein phosphatase 4 catalytic subunit gene DOID:0070311 oligoasthenoteratozoospermia ISO RGD:1551024 D RGD:9068941 20220825 MouseDO 12295734 PPP4C protein phosphatase 4 catalytic subunit gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1352781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12295734 PPP4C protein phosphatase 4 catalytic subunit gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1352781 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12295734 PPP4C protein phosphatase 4 catalytic subunit gene DOID:12849 autistic disorder ISO RGD:1352781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12295734 PPP4C protein phosphatase 4 catalytic subunit gene DOID:1882 atrial heart septal defect ISO RGD:1352781 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12295734 PPP4C protein phosphatase 4 catalytic subunit gene DOID:5419 schizophrenia ISO RGD:1352781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12295734 PPP4C protein phosphatase 4 catalytic subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12295734 PPP4C protein phosphatase 4 catalytic subunit gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1352781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12295734 PPP4C protein phosphatase 4 catalytic subunit gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1352781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12295747 DHRS11 dehydrogenase/reductase 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1601851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 12295747 DHRS11 dehydrogenase/reductase 11 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1601851 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 12295747 DHRS11 dehydrogenase/reductase 11 gene DOID:12849 autistic disorder ISO RGD:1601851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12295747 DHRS11 dehydrogenase/reductase 11 gene DOID:5419 schizophrenia ISO RGD:1601851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12295747 DHRS11 dehydrogenase/reductase 11 gene DOID:630 genetic disease ISO RGD:1601851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12295747 DHRS11 dehydrogenase/reductase 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12295747 DHRS11 dehydrogenase/reductase 11 gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1601851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 12295760 RSPO1 R-spondin 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12295760 RSPO1 R-spondin 1 gene DOID:4001 ovarian carcinoma ISO RGD:1603515 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:25581431 12295760 RSPO1 R-spondin 1 gene DOID:630 genetic disease ISO RGD:1603515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12295760 RSPO1 R-spondin 1 gene DOID:9001360 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal ISO RGD:1603515 D RGD:7240710 20180130 OMIM 12295760 RSPO1 R-spondin 1 gene DOID:9001360 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal ISO RGD:1603515 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal PMID:16158431|PMID:17041600|PMID:25741868|PMID:28492532 12295760 RSPO1 R-spondin 1 gene DOID:9004267 Palmoplantar Hyperkeratosis and True Hermaphroditism ISO RGD:1603515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Palmoplantar hyperkeratosis and true hermaphroditism PMID:18085567 12295773 SNRNP48 small nuclear ribonucleoprotein U11/U12 subunit 48 gene DOID:0090128 Carvajal syndrome ISO RGD:1319128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:28492532 12295773 SNRNP48 small nuclear ribonucleoprotein U11/U12 subunit 48 gene DOID:0110076 arrhythmogenic right ventricular dysplasia 8 ISO RGD:1319128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:28492532 12295773 SNRNP48 small nuclear ribonucleoprotein U11/U12 subunit 48 gene DOID:630 genetic disease ISO RGD:1319128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12295786 SPATA6L spermatogenesis associated 6 like gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1320709 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12295786 SPATA6L spermatogenesis associated 6 like gene DOID:630 genetic disease ISO RGD:1320709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12295803 TAFA1 TAFA chemokine like family member 1 gene DOID:630 genetic disease ISO RGD:1347131 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12295815 TESC tescalcin gene DOID:630 genetic disease ISO RGD:1606266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12295828 HACD4 3-hydroxyacyl-CoA dehydratase 4 gene DOID:5419 schizophrenia ISO RGD:1601904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12295828 HACD4 3-hydroxyacyl-CoA dehydratase 4 gene DOID:630 genetic disease ISO RGD:1601904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12295839 SNX15 sorting nexin 15 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1314058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12295839 SNX15 sorting nexin 15 gene DOID:1059 intellectual disability ISO RGD:1314058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12295839 SNX15 sorting nexin 15 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1314058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12295839 SNX15 sorting nexin 15 gene DOID:2746 glycogen storage disease V ISO RGD:1314058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12295839 SNX15 sorting nexin 15 gene DOID:3070 high grade glioma ISO RGD:1314058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12295839 SNX15 sorting nexin 15 gene DOID:630 genetic disease ISO RGD:1314058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12295851 SFXN5 sideroflexin 5 gene DOID:0050473 Alstrom syndrome ISO RGD:1343188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 12295851 SFXN5 sideroflexin 5 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1343188 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12295851 SFXN5 sideroflexin 5 gene DOID:543 dystonia ISO RGD:1343188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12295851 SFXN5 sideroflexin 5 gene DOID:630 genetic disease ISO RGD:1343188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12295851 SFXN5 sideroflexin 5 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1343188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12295874 SLF2 SMC5-SMC6 complex localization factor 2 gene DOID:630 genetic disease ISO RGD:1349080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12295874 SLF2 SMC5-SMC6 complex localization factor 2 gene DOID:9006377 Mosaic Variegated Aneuploidy Syndrome 5 ISO RGD:1349080 D RGD:7240710 20230125 OMIM 12295874 SLF2 SMC5-SMC6 complex localization factor 2 gene DOID:9006377 Mosaic Variegated Aneuploidy Syndrome 5 ISO RGD:1349080 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Atelis syndrome 1 PMID:36333305 12295910 TMSB10 thymosin beta 10 gene DOID:3042 allergic contact dermatitis ISO RGD:731359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17597826 12295910 TMSB10 thymosin beta 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12295917 C20H19orf38 chromosome 20 C19orf38 homolog gene DOID:0050990 episodic ataxia type 2 ISO RGD:2302125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12295917 C20H19orf38 chromosome 20 C19orf38 homolog gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:2302125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12295917 C20H19orf38 chromosome 20 C19orf38 homolog gene DOID:0111254 glutaric acidemia I ISO RGD:2302125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12295917 C20H19orf38 chromosome 20 C19orf38 homolog gene DOID:13810 familial hypercholesterolemia ISO RGD:2302125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:28492532 12295917 C20H19orf38 chromosome 20 C19orf38 homolog gene DOID:3413 alpha-mannosidosis ISO RGD:2302125 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12295967 DEFB114 defensin beta 114 gene DOID:630 genetic disease ISO RGD:1348589 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12295970 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1348513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25678704|PMID:26467025|PMID:28492532|PMID:28589176|PMID:29130122 12295970 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12295970 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1348513 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:25741868|PMID:9383023 12295970 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0080215 developmental and epileptic encephalopathy 8 ISO RGD:1348513 D RGD:7240710 20180130 OMIM 12295970 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0080215 developmental and epileptic encephalopathy 8 ISO RGD:1348513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 PMID:15215304|PMID:16199547|PMID:16616186|PMID:17576681|PMID:17893116|PMID:18414213|PMID:18615734|PMID:21633362|PMID:21731583|PMID:22612257|PMID:23033978|PMID:25568878|PMID:25678704|PMID:25741868|PMID:26467025|PMID:26834553|PMID:27238888|PMID:28492532|PMID:28589176|PMID:28620718|PMID:28708303|PMID:29130122|PMID:30914922|PMID:31054490|PMID:32005694|PMID:32860008|PMID:33860439|PMID:9536098 12295970 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1348513 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 12295970 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:1059 intellectual disability ISO RGD:1348513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12295970 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:12849 autistic disorder ISO RGD:1348513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12295970 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:1826 epilepsy ISO RGD:1348513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12295970 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:630 genetic disease ISO RGD:1348513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16616186|PMID:18414213|PMID:21731583|PMID:22612257|PMID:25568878|PMID:25678704|PMID:25741868|PMID:26467025|PMID:26834553|PMID:28492532|PMID:28589176|PMID:28620718|PMID:29130122|PMID:30914922 12295970 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1348513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21807943 12295970 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:9008086 Developmental Disabilities ISO RGD:1348513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:17893116|PMID:18615734|PMID:23033978|PMID:25678704|PMID:25741868|PMID:26834553|PMID:28492532|PMID:28589176|PMID:28708303 12295970 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:9008582 Developmental Disease ISO RGD:1348513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25678704|PMID:25741868|PMID:26834553|PMID:28492532|PMID:28589176 12296008 FOXL2 forkhead box L2 gene DOID:0080860 primary ovarian insufficiency 3 ISO RGD:1320713 D RGD:7240710 20180130 OMIM 12296008 FOXL2 forkhead box L2 gene DOID:0080860 primary ovarian insufficiency 3 ISO RGD:1320713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 3 PMID:12149404|PMID:12161610|PMID:19429596|PMID:25741868|PMID:29378385 12296008 FOXL2 forkhead box L2 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1320713 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:24728327 12296008 FOXL2 forkhead box L2 gene DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome ISO RGD:1320713 D RGD:7240710 20180130 OMIM 12296008 FOXL2 forkhead box L2 gene DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome ISO RGD:1320713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome PMID:11175783|PMID:11468277|PMID:11776388|PMID:12149404|PMID:12161610|PMID:12400065|PMID:12529855|PMID:12630957|PMID:12938087|PMID:16283882|PMID:17277738|PMID:18372316|PMID:18484667|PMID:18635577|PMID:18642388|PMID:19010791|PMID:19429596|PMID:19515849|PMID:22159675|PMID:22312189|PMID:23441113|PMID:25741868|PMID:27914838|PMID:28492532|PMID:28849110|PMID:31048069|PMID:31077882|PMID:33796131 12296008 FOXL2 forkhead box L2 gene DOID:2876 laryngeal squamous cell carcinoma exacerbates ISO RGD:1320713 D RGD:9068941 20220414 RGD mRNA:increased expression:larynx (human) PMID:32517588|REF_RGD_ID:151667913 12296008 FOXL2 forkhead box L2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1320713 D RGD:9068941 20220414 RGD DNA:hypermethylation: (human) PMID:23599765|REF_RGD_ID:13503323 12296008 FOXL2 forkhead box L2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1320713 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12296008 FOXL2 forkhead box L2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24728327 12296008 FOXL2 forkhead box L2 gene DOID:630 genetic disease ISO RGD:1320713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296008 FOXL2 forkhead box L2 gene DOID:9000058 Keloid ISO RGD:1320713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20711176 12296008 FOXL2 forkhead box L2 gene DOID:9003489 Blepharophimosis Syndrome Type 1 ISO RGD:1320713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I PMID:11175783|PMID:11468277|PMID:11776388|PMID:12400065|PMID:12529855|PMID:12567411|PMID:12630957|PMID:12938087|PMID:16219626|PMID:17089161|PMID:18372316|PMID:25741868|PMID:28492532|PMID:28849110|PMID:31048069 12296008 FOXL2 forkhead box L2 gene DOID:9007148 Blepharophimosis Syndrome Type 2 ISO RGD:1320713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure PMID:11175783|PMID:11468277|PMID:11776388|PMID:12400065|PMID:12529855|PMID:12630957|PMID:12938087|PMID:16283882|PMID:17277738|PMID:18372316|PMID:18484667|PMID:21325395|PMID:25741868|PMID:28492532 12296008 FOXL2 forkhead box L2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1320713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 12296008 FOXL2 forkhead box L2 gene DOID:9009129 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 1 ISO RGD:1320713 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 PMID:25741868 12296078 SLC9A2 solute carrier family 9 member A2 gene DOID:0080685 aortic dissection ISO RGD:730959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:34409081 12296078 SLC9A2 solute carrier family 9 member A2 gene DOID:630 genetic disease ISO RGD:730959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296078 SLC9A2 solute carrier family 9 member A2 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:730959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia 12296078 SLC9A2 solute carrier family 9 member A2 gene DOID:9000197 Edema ISO RGD:730959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20553904 12296094 SEPTIN7 septin 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12296094 SEPTIN7 septin 7 gene DOID:630 genetic disease ISO RGD:1604654 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296115 TNFAIP6 TNF alpha induced protein 6 gene DOID:11382 corneal neovascularization treatment ISO RGD:1345645 D RGD:9068941 20200609 RGD PMID:20837529|REF_RGD_ID:7777186 12296115 TNFAIP6 TNF alpha induced protein 6 gene DOID:3042 allergic contact dermatitis ISO RGD:1345645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404|PMID:17374397 12296115 TNFAIP6 TNF alpha induced protein 6 gene DOID:3310 atopic dermatitis ISO RGD:1345645 D RGD:9068941 20200609 RGD mRNA:altered expression:fibroblast PMID:16650051|REF_RGD_ID:7777183 12296115 TNFAIP6 TNF alpha induced protein 6 gene DOID:3525 middle cerebral artery infarction ISO RGD:1345645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 12296115 TNFAIP6 TNF alpha induced protein 6 gene DOID:37 skin disease ISO RGD:1345645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12296115 TNFAIP6 TNF alpha induced protein 6 gene DOID:4251 conjunctival disease ISO RGD:1345645 D RGD:9068941 20200609 RGD PMID:22297496|REF_RGD_ID:7777184 12296115 TNFAIP6 TNF alpha induced protein 6 gene DOID:630 genetic disease ISO RGD:1345645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296115 TNFAIP6 TNF alpha induced protein 6 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12296115 TNFAIP6 TNF alpha induced protein 6 gene DOID:9001488 Human Influenza ISO RGD:1345645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12296115 TNFAIP6 TNF alpha induced protein 6 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:621359 D RGD:9068941 20200609 RGD PMID:22912904|REF_RGD_ID:7777188 12296115 TNFAIP6 TNF alpha induced protein 6 gene DOID:9004610 Acute Lung Injury ISO RGD:1345645 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26313688 12296115 TNFAIP6 TNF alpha induced protein 6 gene DOID:9005372 Inflammation treatment ISO RGD:1345645 D RGD:9068941 20200609 RGD associated with Corneal Diseases PMID:21837654|REF_RGD_ID:7777185 12296115 TNFAIP6 TNF alpha induced protein 6 gene DOID:9007964 Arsenic Poisoning ISO RGD:1345645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12296115 TNFAIP6 TNF alpha induced protein 6 gene DOID:9008606 Corneal Opacity treatment ISO RGD:1345645 D RGD:9068941 20200609 RGD PMID:20837529|REF_RGD_ID:7777186 12296125 RAD54L2 RAD54 like 2 gene DOID:630 genetic disease ISO RGD:1604389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296163 OBI1 ORC ubiquitin ligase 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1354147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12296163 OBI1 ORC ubiquitin ligase 1 gene DOID:630 genetic disease ISO RGD:1354147 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296173 NELFCD negative elongation factor complex member C/D gene DOID:10283 prostate cancer disease_progression ISO RGD:1346942 D RGD:9068941 20200609 RGD PMID:19945309|REF_RGD_ID:9693724 12296173 NELFCD negative elongation factor complex member C/D gene DOID:630 genetic disease ISO RGD:1346942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296192 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0050777 Joubert syndrome ISO RGD:1625089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:17558409|PMID:28492532 12296192 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0050778 Meckel syndrome ISO RGD:1625089 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:28492532 12296192 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0070115 Meckel syndrome 1 ISO RGD:1625089 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica PMID:28492532 12296192 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1625089 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 12296192 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0110980 Joubert syndrome 1 ISO RGD:1625089 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:28492532 12296192 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0111112 nephronophthisis 1 ISO RGD:1625089 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:28492532 12296192 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:12712 nephronophthisis ISO RGD:1625089 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 12296192 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:1909 melanoma ISO RGD:1625089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23455637 12296192 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:630 genetic disease ISO RGD:1625089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12296192 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9003081 Growth Retardation, Developmental Delay, Coarse Facies, and Early Death ISO RGD:1625089 D RGD:7240710 20230517 OMIM 12296192 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9003081 Growth Retardation, Developmental Delay, Coarse Facies, and Early Death ISO RGD:1625089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM | ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death PMID:19559399|PMID:19833892|PMID:20299471|PMID:23505181|PMID:23825611|PMID:24289790|PMID:25741868|PMID:26378117|PMID:26820768|PMID:27105045|PMID:28492532 12296192 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9004581 Pediatric Obesity ISO RGD:1625089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25137265 12296192 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9004657 Weight Gain ISO RGD:1625089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25322899 12296192 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9007633 Body Weight ISO RGD:1625089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219|PMID:22344221 12296192 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9008939 Breast Neoplasms ISO RGD:1625089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23535733 12296192 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1625089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104008 12296192 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9970 obesity ISO RGD:1625089 D RGD:7240710 20230517 OMIM 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:731305 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:21330466|REF_RGD_ID:5684550 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:731305 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:0060180 colitis ISO RGD:3213 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:dorsal root ganglion PMID:20638179|REF_RGD_ID:5684542 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:0080285 developmental and epileptic encephalopathy 58 ISO RGD:731305 D RGD:7240710 20190315 OMIM 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:0080285 developmental and epileptic encephalopathy 58 ISO RGD:731305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 58 PMID:25741868|PMID:28492532|PMID:29100083 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:11023 D RGD:9068941 20200609 RGD PMID:20553714|REF_RGD_ID:5684901 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:10652 Alzheimer's disease ISO RGD:11023 D RGD:9068941 20200609 RGD PMID:21900882|REF_RGD_ID:5684548 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:10652 Alzheimer's disease ISO RGD:731305 D RGD:9068941 20200609 RGD sporadic AD; DNA:SNP:intron:rs2289656 PMID:18780967|REF_RGD_ID:5508228 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:10652 Alzheimer's disease treatment ISO RGD:3213 D RGD:9068941 20200609 RGD PMID:24877042|REF_RGD_ID:10059402 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:1094 attention deficit hyperactivity disorder treatment ISO RGD:3213 D RGD:9068941 20200609 RGD PMID:25061595|REF_RGD_ID:10059388 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:11981 morbid obesity onset ISO RGD:731305 D RGD:9068941 20200609 RGD protein:substitution:Y722C;severe early-onset PMID:16702999|REF_RGD_ID:1626135 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:12217 Lewy body dementia ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:12849 autistic disorder ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20662941 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:12849 autistic disorder ISO RGD:731305 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:20662941|REF_RGD_ID:5684891 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:1470 major depressive disorder ISO RGD:731305 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2289657, rs56142442 (human) PMID:19844206|REF_RGD_ID:5684911 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:1470 major depressive disorder ISO RGD:731305 D RGD:9068941 20200609 RGD mRNA:decreased expression:depression PMID:21223646|REF_RGD_ID:5684778 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:1470 major depressive disorder severity ISO RGD:731305 D RGD:9068941 20200609 RGD DNA:SNPs: : (human) PMID:20124106|REF_RGD_ID:5684909 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:1596 depressive disorder ISO RGD:1552406 D RGD:9068941 20200609 RGD PMID:20956301|REF_RGD_ID:5684782 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:1596 depressive disorder ISO RGD:3213 D RGD:9068941 20200609 RGD PMID:22097208|REF_RGD_ID:5684923 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:1686 glaucoma ISO RGD:3213 D RGD:9068941 20200609 RGD PMID:20357199|REF_RGD_ID:5684908 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:1686 glaucoma ISO RGD:3213 D RGD:9068941 20200609 RGD protein:increased expression:eye: PMID:10711692|REF_RGD_ID:8655608 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:1824 status epilepticus ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635431|PMID:8821376 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:1826 epilepsy ISO RGD:731305 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:2055 post-traumatic stress disorder ISO RGD:3213 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:20863519|REF_RGD_ID:5684783 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:3069 malignant astrocytoma ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23817572 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:3070 high grade glioma ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24705251 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:3312 bipolar disorder ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19018715 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:3312 bipolar disorder ISO RGD:731305 D RGD:9068941 20200609 RGD protein:decreased expression:cerebellum PMID:21612826|REF_RGD_ID:5684549 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:3328 temporal lobe epilepsy ISO RGD:3213 D RGD:9068941 20200609 RGD protein:increased expression:forebrain, postsynaptic density PMID:11226670|REF_RGD_ID:5147998 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:3770 pulmonary fibrosis ISO RGD:11023 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:21330466|REF_RGD_ID:5684550 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:5419 schizophrenia ISO RGD:731305 D RGD:9068941 20200609 RGD mRNA:decreased expression:depression PMID:21223646|REF_RGD_ID:5684778 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:630 genetic disease ISO RGD:731305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29100083 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:769 neuroblastoma ISO RGD:731305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3213 D RGD:9068941 20200609 RGD PMID:20597685|PMID:22027236|REF_RGD_ID:5684547|REF_RGD_ID:5684898 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9000106 Oculomotor Nerve Injuries ISO RGD:3213 D RGD:9068941 20200609 RGD mRNA:increased expression:motor neuron PMID:21456016|REF_RGD_ID:5684341 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:3213 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:21603940|REF_RGD_ID:5684913 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:3213 D RGD:9068941 20200609 RGD PMID:21193742|REF_RGD_ID:5684779 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:3213 D RGD:9068941 20200609 RGD PMID:20557422|REF_RGD_ID:4891134 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9002211 Hyperalgesia ISO RGD:11023 D RGD:9068941 20200609 RGD PMID:12470870|REF_RGD_ID:8657091 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9002211 Hyperalgesia ISO RGD:3213 D RGD:9068941 20200609 RGD associated with inflammation;protein:increased expression:dorsal root ganglion: PMID:21958434|REF_RGD_ID:8657122 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9002362 Hyperkinesis ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20826313|PMID:20947769 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9002916 Hyperphagia ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15494731 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9002953 Escherichia Coli Infections onset ISO RGD:3213 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:21411668|REF_RGD_ID:5684914 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9005372 Inflammation ISO RGD:3213 D RGD:9068941 20200609 RGD protein:increased expression:hindpaw: PMID:21958434|REF_RGD_ID:8657122 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20826313|PMID:20947769 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9008086 Developmental Disabilities ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15494731 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9008091 Optic Nerve Injuries ISO RGD:3213 D RGD:9068941 20200609 RGD PMID:20357199|REF_RGD_ID:5684908 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9008520 Chronic Pain ISO RGD:3213 D RGD:9068941 20200609 RGD protein:increased expression:frontal cortex, neuron PMID:11360665|REF_RGD_ID:5684922 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9008582 Developmental Disease ISO RGD:731305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28492532 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9008733 Obesity, Hyperphagia, and Developmental Delay ISO RGD:731305 D RGD:7240710 20180130 OMIM 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9008733 Obesity, Hyperphagia, and Developmental Delay ISO RGD:731305 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Obesity, hyperphagia, and developmental delay PMID:15494731|PMID:25741868|PMID:27884935|PMID:28492532|PMID:29100083 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9470 bacterial meningitis ISO RGD:11023 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus PMID:16141791|REF_RGD_ID:5684920 12296205 NTRK2 neurotrophic receptor tyrosine kinase 2 gene DOID:9970 obesity ISO RGD:731305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity 12296241 ACTL9 actin like 9 gene DOID:0112279 spermatogenic failure 53 ISO RGD:1602048 D RGD:7240710 20210421 OMIM 12296241 ACTL9 actin like 9 gene DOID:0112279 spermatogenic failure 53 ISO RGD:1602048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 53 PMID:33626338 12296241 ACTL9 actin like 9 gene DOID:12849 autistic disorder ISO RGD:1602048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12296241 ACTL9 actin like 9 gene DOID:3310 atopic dermatitis ISO RGD:1602048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23042114 12296241 ACTL9 actin like 9 gene DOID:630 genetic disease ISO RGD:1602048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296249 GDF5 growth differentiation factor 5 gene DOID:0050581 brachydactyly ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:17384641|PMID:25741868|PMID:28492532 12296249 GDF5 growth differentiation factor 5 gene DOID:0050790 fibular hypoplasia and complex brachydactyly ISO RGD:1345266 D RGD:7240710 20180130 OMIM 12296249 GDF5 growth differentiation factor 5 gene DOID:0050790 fibular hypoplasia and complex brachydactyly ISO RGD:1345266 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 2B PMID:12121354|PMID:16014698|PMID:16127465|PMID:17384641|PMID:18629880|PMID:25741868|PMID:28492532 12296249 GDF5 growth differentiation factor 5 gene DOID:0050794 multiple synostoses syndrome ISO RGD:1622400 D RGD:9068941 20220825 MouseDO OMIM:186500 | OMIM:610017 | OMIM:612961 12296249 GDF5 growth differentiation factor 5 gene DOID:0080049 acromesomelic dysplasia ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 12296249 GDF5 growth differentiation factor 5 gene DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type ISO RGD:1345266 D RGD:7240710 20180130 OMIM 12296249 GDF5 growth differentiation factor 5 gene DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type PMID:17384641|PMID:25741868|PMID:2703235|PMID:28492532|PMID:8589725|PMID:964999 12296249 GDF5 growth differentiation factor 5 gene DOID:0080052 acromesomelic dysplasia, Grebe type ISO RGD:1345266 D RGD:7240710 20180130 OMIM 12296249 GDF5 growth differentiation factor 5 gene DOID:0080052 acromesomelic dysplasia, Grebe type ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Grebe syndrome PMID:12124730|PMID:12900894|PMID:17384641|PMID:25741868|PMID:28492532|PMID:9288098 12296249 GDF5 growth differentiation factor 5 gene DOID:0080788 proximal symphalangism 2 ISO RGD:1345266 D RGD:7240710 20201021 OMIM 12296249 GDF5 growth differentiation factor 5 gene DOID:0080788 proximal symphalangism 2 ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symphalangism, proximal, 1B PMID:12121354|PMID:16014698|PMID:16127465|PMID:16532400|PMID:16892395|PMID:18283415 12296249 GDF5 growth differentiation factor 5 gene DOID:0081317 multiple synostoses syndrome 1 ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome 12296249 GDF5 growth differentiation factor 5 gene DOID:0081318 multiple synostoses syndrome 2 ISO RGD:1345266 D RGD:7240710 20180130 OMIM 12296249 GDF5 growth differentiation factor 5 gene DOID:0081318 multiple synostoses syndrome 2 ISO RGD:1345266 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple synostoses syndrome 2 PMID:16127465|PMID:16532400|PMID:17384641|PMID:25741868|PMID:28492532|PMID:9024575|PMID:9288091 12296249 GDF5 growth differentiation factor 5 gene DOID:0110964 brachydactyly type A1 ISO RGD:1345266 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.1195C>T(human) PMID:20683927|REF_RGD_ID:12437076 12296249 GDF5 growth differentiation factor 5 gene DOID:0110965 brachydactyly type A2 ISO RGD:1345266 D RGD:7240710 20180130 OMIM 12296249 GDF5 growth differentiation factor 5 gene DOID:0110965 brachydactyly type A2 ISO RGD:1345266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly type A2 PMID:12121354|PMID:12357473|PMID:16014698|PMID:16127465|PMID:18203755|PMID:25741868|PMID:27577507|PMID:28492532|PMID:8589725|PMID:9288091 12296249 GDF5 growth differentiation factor 5 gene DOID:0110970 brachydactyly type C ISO RGD:1345266 D RGD:7240710 20180130 OMIM 12296249 GDF5 growth differentiation factor 5 gene DOID:0110970 brachydactyly type C ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly type C PMID:12357473|PMID:12567410|PMID:13953230|PMID:14735582|PMID:16957682|PMID:18283415|PMID:25741868|PMID:9024575|PMID:9288091 12296249 GDF5 growth differentiation factor 5 gene DOID:0110977 brachydactyly type A1C ISO RGD:1345266 D RGD:7240710 20180130 OMIM 12296249 GDF5 growth differentiation factor 5 gene DOID:0110977 brachydactyly type A1C ISO RGD:1345266 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brachydactyly type A1C PMID:20683927|PMID:25741868|PMID:9288098 12296249 GDF5 growth differentiation factor 5 gene DOID:11193 syndactyly ISO RGD:1622400 D RGD:9068941 20200609 RGD DNA:insertion:cds: PMID:18984342|REF_RGD_ID:12738203 12296249 GDF5 growth differentiation factor 5 gene DOID:14330 Parkinson's disease ISO RGD:620102 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum: PMID:24373993|REF_RGD_ID:12738228 12296249 GDF5 growth differentiation factor 5 gene DOID:14330 Parkinson's disease treatment ISO RGD:1345266 D RGD:9068941 20200609 RGD PMID:22436046|REF_RGD_ID:12738227 12296249 GDF5 growth differentiation factor 5 gene DOID:2256 osteochondrodysplasia ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondrodysplasia 12296249 GDF5 growth differentiation factor 5 gene DOID:630 genetic disease ISO RGD:1345266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12296249 GDF5 growth differentiation factor 5 gene DOID:7148 rheumatoid arthritis ISO RGD:1345266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18830904 12296249 GDF5 growth differentiation factor 5 gene DOID:8398 osteoarthritis ISO RGD:1345266 D RGD:7240710 20180130 OMIM 12296249 GDF5 growth differentiation factor 5 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1345266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 12296249 GDF5 growth differentiation factor 5 gene DOID:9004340 Developmental Dysplasia of the Hip 1 ISO RGD:1345266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18947434 12296249 GDF5 growth differentiation factor 5 gene DOID:9004340 Developmental Dysplasia of the Hip 1 susceptibility ISO RGD:1345266 D RGD:9068941 20200609 RGD DNA:SNP::rs143383(human) PMID:18947434|REF_RGD_ID:12738201 12296249 GDF5 growth differentiation factor 5 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteoarthritis, hip PMID:17384641|PMID:28492532 12296249 GDF5 growth differentiation factor 5 gene DOID:9008331 Tendon Injuries treatment ISO RGD:1345266 D RGD:9068941 20200609 RGD PMID:17507245|REF_RGD_ID:12738226 12296249 GDF5 growth differentiation factor 5 gene DOID:9008331 Tendon Injuries treatment ISO RGD:1622400 D RGD:9068941 20200609 RGD PMID:16419971|REF_RGD_ID:12738229 12296249 GDF5 growth differentiation factor 5 gene DOID:9008763 Femoral Fractures treatment ISO RGD:1345266 D RGD:9068941 20200609 RGD PMID:25543012|REF_RGD_ID:12738204 12296255 PRL prolactin gene DOID:0060001 withdrawal disorder ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9037573 12296255 PRL prolactin gene DOID:0060043 sexual health disorder ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829128|PMID:9334596 12296255 PRL prolactin gene DOID:0080855 Parkinsonism ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:240179 12296255 PRL prolactin gene DOID:10762 portal hypertension ISO RGD:3403 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:17119344|REF_RGD_ID:1642556 12296255 PRL prolactin gene DOID:11132 prostatic hypertrophy ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2208075 12296255 PRL prolactin gene DOID:12698 gynecomastia ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7878608|PMID:9334596 12296255 PRL prolactin gene DOID:12700 hyperprolactinemia ISO RGD:3403 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17303669|REF_RGD_ID:1642575 12296255 PRL prolactin gene DOID:12700 hyperprolactinemia ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303669|PMID:2880862|PMID:2948424|PMID:4001434 12296255 PRL prolactin gene DOID:12849 autistic disorder ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18207134 12296255 PRL prolactin gene DOID:13938 amenorrhea ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6777091 12296255 PRL prolactin gene DOID:1591 renovascular hypertension ISO RGD:3403 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17316702|REF_RGD_ID:1642574 12296255 PRL prolactin gene DOID:1875 impotence ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829128|PMID:387166|PMID:4001434|PMID:7878608|PMID:8845563 12296255 PRL prolactin gene DOID:1876 sexual dysfunction ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10084644|PMID:15677431 12296255 PRL prolactin gene DOID:1924 hypogonadism ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829128 12296255 PRL prolactin gene DOID:2355 anemia ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10340396 12296255 PRL prolactin gene DOID:2696 Leydig cell tumor ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:4092719 12296255 PRL prolactin gene DOID:289 endometriosis ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11925390 12296255 PRL prolactin gene DOID:2945 severe acute respiratory syndrome ISO RGD:736187 D RGD:9068941 20200609 RGD protein:increased expression:adenohypophysis (human) PMID:20651845|REF_RGD_ID:28711759 12296255 PRL prolactin gene DOID:299 adenocarcinoma ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6280079 12296255 PRL prolactin gene DOID:3407 carotid artery disease susceptibility ISO RGD:736187 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17626900|REF_RGD_ID:1642555 12296255 PRL prolactin gene DOID:5394 prolactinoma ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1407345|PMID:3776530|PMID:718334|PMID:9617019 12296255 PRL prolactin gene DOID:591 phobic disorder ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2554359 12296255 PRL prolactin gene DOID:6000 congestive heart failure ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18926768 12296255 PRL prolactin gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2042694 12296255 PRL prolactin gene DOID:630 genetic disease ISO RGD:736187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296255 PRL prolactin gene DOID:657 adenoma ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12058109|PMID:2274009 12296255 PRL prolactin gene DOID:679 basal ganglia disease ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7214106 12296255 PRL prolactin gene DOID:684 hepatocellular carcinoma onset ISO RGD:736187 D RGD:9068941 20210528 RGD protein:increased expression:serum (human) PMID:22392353|REF_RGD_ID:125097525 12296255 PRL prolactin gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:6280079 12296255 PRL prolactin gene DOID:9000972 Fever ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 12296255 PRL prolactin gene DOID:9001791 Puerperal Disorders ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18926768 12296255 PRL prolactin gene DOID:9002090 Galactorrhea ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20083845 12296255 PRL prolactin gene DOID:9002170 Experimental Neoplasms treatment ISO RGD:3403 D RGD:9068941 20220519 RGD PMID:26983879|REF_RGD_ID:152177690 12296255 PRL prolactin gene DOID:9002234 Pituitary Neoplasms ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:2274009|PMID:3498743|PMID:6156259 12296255 PRL prolactin gene DOID:9003002 Fetal Resorption ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3816235 12296255 PRL prolactin gene DOID:9003805 Catalepsy ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7197982 12296255 PRL prolactin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12296255 PRL prolactin gene DOID:9005600 Infarction ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:718334 12296255 PRL prolactin gene DOID:9005632 Cocaine-Related Disorders ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15064918 12296255 PRL prolactin gene DOID:9006024 Hypotension ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720|PMID:71628 12296255 PRL prolactin gene DOID:9006646 Metabolic Syndrome ISO RGD:736187 D RGD:9068941 20200609 RGD PMID:16303834|REF_RGD_ID:1642558 12296255 PRL prolactin gene DOID:9007001 Bradycardia ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 12296255 PRL prolactin gene DOID:9007456 Female Infertility ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19531635 12296255 PRL prolactin gene DOID:9007692 Insulin Resistance ISO RGD:736187 D RGD:9068941 20200609 RGD associated with Hyperprolactinemia PMID:3888755|REF_RGD_ID:1642560 12296255 PRL prolactin gene DOID:9008023 Memory Disorders ISO RGD:736187 D RGD:9068941 20230518 CTD CTD Direct Evidence: therapeutic PMID:36100143 12296255 PRL prolactin gene DOID:9008297 Motor Disorders ISO RGD:736187 D RGD:9068941 20230518 CTD CTD Direct Evidence: therapeutic PMID:36100143 12296255 PRL prolactin gene DOID:9008614 Cardiovascular Pregnancy Complications ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18926768 12296255 PRL prolactin gene DOID:9074 systemic lupus erythematosus ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14870917 12296255 PRL prolactin gene DOID:9406 hypopituitarism ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1304515 12296255 PRL prolactin gene DOID:9970 obesity ISO RGD:736187 D RGD:9068941 20200609 RGD PMID:8388614|REF_RGD_ID:1642559 12296255 PRL prolactin gene DOID:9993 hypoglycemia ISO RGD:736187 D RGD:9068941 20200609 RGD associated with Hypertension PMID:16617309|REF_RGD_ID:1642557 12296255 Prl prolactin gene DOID:5394 prolactinoma ISO RGD:3403 D RGD:9068941 20200609 RGD mRNA:increased expression:pituitary gland PMID:17260475|REF_RGD_ID:1642576 12296264 DND1 DND microRNA-mediated repression inhibitor 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1321748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12296264 DND1 DND microRNA-mediated repression inhibitor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321748 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12296264 DND1 DND microRNA-mediated repression inhibitor 1 gene DOID:0110842 Usher syndrome type 3B ISO RGD:1321748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 3B PMID:28492532 12296264 DND1 DND microRNA-mediated repression inhibitor 1 gene DOID:3305 teratocarcinoma ISO RGD:1583648 D RGD:9068941 20210827 RGD compared to WKY PMID:22655094|REF_RGD_ID:40924659 12296264 DND1 DND microRNA-mediated repression inhibitor 1 gene DOID:630 genetic disease ISO RGD:1321748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296264 DND1 DND microRNA-mediated repression inhibitor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12296264 DND1 DND microRNA-mediated repression inhibitor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321748 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12296272 CSF3R colony stimulating factor 3 receptor gene DOID:0050590 severe congenital neutropenia ISO RGD:1319271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe congenital neutropenia PMID:24753537|PMID:26324699|PMID:28492532|PMID:32581362 12296272 CSF3R colony stimulating factor 3 receptor gene DOID:0050590 severe congenital neutropenia disease_progression ISO RGD:1319271 D RGD:9068941 20200609 RGD PMID:16985178|REF_RGD_ID:10450485 12296272 CSF3R colony stimulating factor 3 receptor gene DOID:0050908 myelodysplastic syndrome ISO RGD:1319271 D RGD:9068941 20200609 RGD Protein:decreased expression:CD34++ cell: PMID:12670333|REF_RGD_ID:10450504 12296272 CSF3R colony stimulating factor 3 receptor gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1319271 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.E785K(human) PMID:15644419|REF_RGD_ID:10450471 12296272 CSF3R colony stimulating factor 3 receptor gene DOID:0080187 chronic neutrophilic leukemia ISO RGD:1319271 D RGD:9068941 20200609 RGD PMID:24081659|REF_RGD_ID:10450482 12296272 CSF3R colony stimulating factor 3 receptor gene DOID:0080187 chronic neutrophilic leukemia ISO RGD:1319271 D RGD:9068941 20200609 RGD DNA:mutation:exon:p.T618I(human) PMID:23604229|REF_RGD_ID:10450483 12296272 CSF3R colony stimulating factor 3 receptor gene DOID:0080188 chronic myelomonocytic leukemia disease_progression ISO RGD:1319271 D RGD:9068941 20200609 RGD DNA:mutations:multiples: PMID:23774674|REF_RGD_ID:10450469 12296272 CSF3R colony stimulating factor 3 receptor gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:1319271 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:23604229|PMID:23634996|PMID:23656643|PMID:24081659|PMID:24403076|PMID:24614839|PMID:24854193|PMID:25491280|PMID:25741868|PMID:25932451|PMID:26875968|PMID:27148573|PMID:27581359|PMID:28209919|PMID:28219221|PMID:28492532|PMID:28762112|PMID:30967555|PMID:31697825 12296272 CSF3R colony stimulating factor 3 receptor gene DOID:0090120 hereditary neutrophilia ISO RGD:1319271 D RGD:7240710 20220406 OMIM 12296272 CSF3R colony stimulating factor 3 receptor gene DOID:0090120 hereditary neutrophilia ISO RGD:1319271 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary neutrophilia PMID:12203110|PMID:19620628|PMID:24753537|PMID:25741868|PMID:26324699|PMID:28492532 12296272 CSF3R colony stimulating factor 3 receptor gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12296272 CSF3R colony stimulating factor 3 receptor gene DOID:0112129 severe congenital neutropenia 7 ISO RGD:1319271 D RGD:7240710 20190315 OMIM 12296272 CSF3R colony stimulating factor 3 receptor gene DOID:0112129 severe congenital neutropenia 7 ISO RGD:1319271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to CSF3R deficiency PMID:10449521|PMID:16199547|PMID:17576681|PMID:23604229|PMID:23634996|PMID:23656643|PMID:24033266|PMID:24081659|PMID:24403076|PMID:24614839|PMID:24753537|PMID:24854193|PMID:25491280|PMID:25741868|PMID:25932451|PMID:26324699|PMID:26875968|PMID:27148573|PMID:27581359|PMID:28209919|PMID:28219221|PMID:28492532|PMID:28762112|PMID:30028820|PMID:30348809|PMID:30967555|PMID:31309983|PMID:31321910|PMID:31697825|PMID:32581362|PMID:33108454|PMID:9536098 12296272 CSF3R colony stimulating factor 3 receptor gene DOID:1485 cystic fibrosis ISO RGD:1319271 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion, neutrophil PMID:19293384|REF_RGD_ID:5133738 12296272 CSF3R colony stimulating factor 3 receptor gene DOID:2226 myeloproliferative neoplasm ISO RGD:1319271 D RGD:9068941 20200609 RGD PMID:23897249|REF_RGD_ID:10450501 12296272 CSF3R colony stimulating factor 3 receptor gene DOID:552 pneumonia ISO RGD:1319271 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12296272 CSF3R colony stimulating factor 3 receptor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1319271 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia PMID:23604229|PMID:23634996|PMID:23656643|PMID:24081659|PMID:24403076|PMID:24614839|PMID:24854193|PMID:25491280|PMID:25741868|PMID:25932451|PMID:26875968|PMID:27148573|PMID:27581359|PMID:28209919|PMID:28219221|PMID:28492532|PMID:28762112|PMID:30967555|PMID:31697825 12296272 CSF3R colony stimulating factor 3 receptor gene DOID:612 primary immunodeficiency disease ISO RGD:1319271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:24753537|PMID:25741868|PMID:26324699|PMID:28492532 12296272 CSF3R colony stimulating factor 3 receptor gene DOID:630 genetic disease ISO RGD:1319271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12296272 CSF3R colony stimulating factor 3 receptor gene DOID:874 bacterial pneumonia disease_progression ISO RGD:1319272 D RGD:9068941 20200609 RGD PMID:17185469|REF_RGD_ID:5133739 12296272 CSF3R colony stimulating factor 3 receptor gene DOID:9001039 Leukocytosis ISO RGD:1319271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19620628 12296272 CSF3R colony stimulating factor 3 receptor gene DOID:9001473 Severe Chronic Neutropenia ISO RGD:1319272 D RGD:9068941 20200609 RGD PMID:9639496|REF_RGD_ID:10450484 12296272 CSF3R colony stimulating factor 3 receptor gene DOID:9119 acute myeloid leukemia ISO RGD:1319271 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:23604229|PMID:23634996|PMID:23656643|PMID:24081659|PMID:24403076|PMID:24614839|PMID:24854193|PMID:25491280|PMID:25741868|PMID:25932451|PMID:26875968|PMID:27148573|PMID:27581359|PMID:28209919|PMID:28219221|PMID:28492532|PMID:28762112|PMID:30967555|PMID:31697825 12296272 CSF3R colony stimulating factor 3 receptor gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1319271 D RGD:9068941 20200609 RGD PMID:24746896|REF_RGD_ID:10450468 12296272 CSF3R colony stimulating factor 3 receptor gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1319271 D RGD:9068941 20200609 RGD associated with Severe Congenital Neutropenia;DNA:nonsense mutation:cds: PMID:9001427|REF_RGD_ID:10450487 12296300 VPS28 VPS28 subunit of ESCRT-I gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1315210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12296300 VPS28 VPS28 subunit of ESCRT-I gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1315210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12296300 VPS28 VPS28 subunit of ESCRT-I gene DOID:4621 holoprosencephaly ISO RGD:1315210 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12296300 VPS28 VPS28 subunit of ESCRT-I gene DOID:630 genetic disease ISO RGD:1315210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296318 COA1 cytochrome c oxidase assembly factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12296318 COA1 cytochrome c oxidase assembly factor 1 gene DOID:630 genetic disease ISO RGD:1601863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296336 RFWD3 ring finger and WD repeat domain 3 gene DOID:607 paraplegia ISO RGD:1349611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12296336 RFWD3 ring finger and WD repeat domain 3 gene DOID:630 genetic disease ISO RGD:1349611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12296336 RFWD3 ring finger and WD repeat domain 3 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1349611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23666239 12296336 RFWD3 ring finger and WD repeat domain 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12296336 RFWD3 ring finger and WD repeat domain 3 gene DOID:9009064 Fanconi Anemia Complementation Group W ISO RGD:1349611 D RGD:7240710 20190315 OMIM 12296336 RFWD3 ring finger and WD repeat domain 3 gene DOID:9009064 Fanconi Anemia Complementation Group W ISO RGD:1349611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia, complementation group W PMID:25741868|PMID:26474068|PMID:28492532|PMID:28691929|PMID:33044890 12296356 WTIP WT1 interacting protein gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1343375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12296356 WTIP WT1 interacting protein gene DOID:630 genetic disease ISO RGD:1343375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296368 HCLS1 hematopoietic cell-specific Lyn substrate 1 gene DOID:630 genetic disease ISO RGD:1312380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296368 HCLS1 hematopoietic cell-specific Lyn substrate 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1312380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 12296368 HCLS1 hematopoietic cell-specific Lyn substrate 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1312380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12296368 HCLS1 hematopoietic cell-specific Lyn substrate 1 gene DOID:9270 alkaptonuria ISO RGD:1312380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12296388 PM20D2 peptidase M20 domain containing 2 gene DOID:630 genetic disease ISO RGD:1317289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296450 SMN survival motor neuron gene DOID:0050529 adult spinal muscular atrophy ISO RGD:736439 D RGD:7240710 20180130 OMIM 12296450 SMN survival motor neuron gene DOID:0050529 adult spinal muscular atrophy ISO RGD:736439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, type IV PMID:17576681|PMID:21542063|PMID:24844453|PMID:25741868|PMID:26467025|PMID:27425821|PMID:28492532|PMID:31213135|PMID:9536098 12296450 SMN survival motor neuron gene DOID:0050530 intermediate spinal muscular atrophy ISO RGD:736439 D RGD:7240710 20180802 OMIM 12296450 SMN survival motor neuron gene DOID:0050530 intermediate spinal muscular atrophy ISO RGD:736439 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, type II PMID:10205265|PMID:10369311|PMID:11313744|PMID:11704667|PMID:12515823|PMID:14715275|PMID:15580564|PMID:17475491|PMID:17895963|PMID:18492800|PMID:19050931|PMID:20057317|PMID:21118896|PMID:21209906|PMID:21673580|PMID:21811307|PMID:21920940|PMID:22750651|PMID:22813737|PMID:22975760|PMID:23112048|PMID:24498607|PMID:24844453|PMID:25144193|PMID:25716911|PMID:25741868|PMID:26467025|PMID:27425821|PMID:33062891|PMID:33090613|PMID:33892995|PMID:9158159|PMID:9590291|PMID:9818944|PMID:9837824 12296450 SMN survival motor neuron gene DOID:0060160 childhood spinal muscular atrophy ISO RGD:736439 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17924536 12296450 SMN survival motor neuron gene DOID:12376 juvenile spinal muscular atrophy ISO RGD:736439 D RGD:7240710 20190227 OMIM 12296450 SMN survival motor neuron gene DOID:12376 juvenile spinal muscular atrophy ISO RGD:736439 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kugelberg-Welander disease PMID:10205265|PMID:10339583|PMID:11313744|PMID:11704667|PMID:12515823|PMID:14715275|PMID:15580564|PMID:17475491|PMID:17635841|PMID:17895963|PMID:18492800|PMID:19050931|PMID:20057317|PMID:20301526|PMID:21082361|PMID:21118896|PMID:21209906|PMID:21673580|PMID:21920940|PMID:22323744|PMID:22813737|PMID:23022347|PMID:23073312|PMID:23112048|PMID:24844453|PMID:25144193|PMID:25716911|PMID:25741868|PMID:26467025|PMID:27425821|PMID:33062891|PMID:33090613|PMID:33892995|PMID:36138164|PMID:9158159|PMID:9199562|PMID:9590291|PMID:9668169|PMID:9818944|PMID:9837824 12296450 SMN survival motor neuron gene DOID:12377 spinal muscular atrophy ISO RGD:736439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy PMID:10205265|PMID:10500148|PMID:10556301|PMID:10679938|PMID:10732817|PMID:11078511|PMID:11572858|PMID:11839954|PMID:12374765|PMID:12833158|PMID:14715275|PMID:14749338|PMID:15580564|PMID:15975577|PMID:17049859|PMID:17576681|PMID:17635841|PMID:18155522|PMID:18572081|PMID:19050931|PMID:19663601|PMID:20442745|PMID:21362338|PMID:21542063|PMID:21584334|PMID:21673580|PMID:22994313|PMID:23022347|PMID:23615451|PMID:24844453|PMID:25144193|PMID:25572663|PMID:25741868|PMID:25844556|PMID:26419278|PMID:26467025|PMID:26509018|PMID:26606804|PMID:27425821|PMID:27481219|PMID:28492532|PMID:30006696|PMID:31213135|PMID:31301241|PMID:32552676|PMID:32812185|PMID:33892995|PMID:7813012|PMID:9536098|PMID:9590291 12296450 SMN survival motor neuron gene DOID:13137 Werdnig-Hoffmann disease ISO RGD:736439 D RGD:7240710 20180530 OMIM 12296450 SMN survival motor neuron gene DOID:13137 Werdnig-Hoffmann disease ISO RGD:736439 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Werdnig-Hoffmann disease PMID:10205265|PMID:10500148|PMID:10556301|PMID:10679938|PMID:10732817|PMID:11078511|PMID:11313744|PMID:11572858|PMID:12374765|PMID:12833158|PMID:14715275|PMID:14749338|PMID:15249625|PMID:15580564|PMID:15975577|PMID:16301532|PMID:17049859|PMID:17635841|PMID:17998247|PMID:18155522|PMID:18172693|PMID:19050931|PMID:21209906|PMID:21329463|PMID:21584334|PMID:21673580|PMID:22101937|PMID:23136128|PMID:23615451|PMID:25144193|PMID:25525159|PMID:25741868|PMID:25844556|PMID:26467025|PMID:26509018|PMID:26606804|PMID:27425821|PMID:28570645|PMID:29982416|PMID:31156382|PMID:31301241|PMID:7813012|PMID:8922999|PMID:9147655|PMID:9158159|PMID:9590291 12296450 SMN survival motor neuron gene DOID:13938 amenorrhea ISO RGD:736439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12296450 SMN survival motor neuron gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12296450 SMN survival motor neuron gene DOID:9006030 Infant Death ISO RGD:736439 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27111068 12296472 PWP1 PWP1 homolog, endonuclein gene DOID:630 genetic disease ISO RGD:1605095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296491 PPP4R3B protein phosphatase 4 regulatory subunit 3B gene DOID:630 genetic disease ISO RGD:1603387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296521 C10H2orf42 chromosome 10 C2orf42 homolog gene DOID:630 genetic disease ISO RGD:1603029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296558 CDC5L cell division cycle 5 like gene DOID:0080205 CAKUT ISO RGD:731949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:27657687 12296558 CDC5L cell division cycle 5 like gene DOID:3347 osteosarcoma ISO RGD:731949 D RGD:9068941 20200609 RGD DNA:amplification:cds (human) PMID:18567798|REF_RGD_ID:10047050 12296558 CDC5L cell division cycle 5 like gene DOID:4914 esophagus adenocarcinoma disease_progression ISO RGD:731949 D RGD:9068941 20200609 RGD protein:increased expression:esophageal mucosa (human) PMID:15725809|REF_RGD_ID:10047052 12296558 CDC5L cell division cycle 5 like gene DOID:630 genetic disease ISO RGD:731949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296558 CDC5L cell division cycle 5 like gene DOID:9005172 Lung Neoplasms ISO RGD:736292 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:14647414|REF_RGD_ID:10047051 12296578 LRP2BP LRP2 binding protein gene DOID:12849 autistic disorder ISO RGD:1601755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12296578 LRP2BP LRP2 binding protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1601755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 12296578 LRP2BP LRP2 binding protein gene DOID:630 genetic disease ISO RGD:1601755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296578 LRP2BP LRP2 binding protein gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1601755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 12296595 R3HDM1 R3H domain containing 1 gene DOID:0060591 WHIM syndrome 1 ISO RGD:1316725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 12296595 R3HDM1 R3H domain containing 1 gene DOID:630 genetic disease ISO RGD:1316725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296644 ZMYND10 zinc finger MYND-type containing 10 gene DOID:0050144 Kartagener syndrome ISO RGD:1351816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:23891469|PMID:23891471|PMID:25741868|PMID:28492532 12296644 ZMYND10 zinc finger MYND-type containing 10 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532|PMID:30410802 12296644 ZMYND10 zinc finger MYND-type containing 10 gene DOID:0110597 primary ciliary dyskinesia 22 ISO RGD:1351816 D RGD:7240710 20180130 OMIM 12296644 ZMYND10 zinc finger MYND-type containing 10 gene DOID:0110597 primary ciliary dyskinesia 22 ISO RGD:1351816 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 22 PMID:23891469|PMID:23891471|PMID:25741868|PMID:28492532|PMID:31650533 12296644 ZMYND10 zinc finger MYND-type containing 10 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532|PMID:30410802 12296644 ZMYND10 zinc finger MYND-type containing 10 gene DOID:630 genetic disease ISO RGD:1351816 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12296644 ZMYND10 zinc finger MYND-type containing 10 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:23891469|PMID:23891471|PMID:25741868|PMID:26824761|PMID:28492532|PMID:31650533|PMID:31879361|PMID:9536098 12296666 RSRP1 arginine and serine rich protein 1 gene DOID:0050641 Rh deficiency syndrome ISO RGD:1603978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RhD negative 12296666 RSRP1 arginine and serine rich protein 1 gene DOID:4175 Rh isoimmunization ISO RGD:1603978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemolytic disease of fetus OR newborn due to RhD isoimmunization PMID:28639307 12296666 RSRP1 arginine and serine rich protein 1 gene DOID:630 genetic disease ISO RGD:1603978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296666 RSRP1 arginine and serine rich protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12296675 HP1BP3 heterochromatin protein 1 binding protein 3 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1606796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12296675 HP1BP3 heterochromatin protein 1 binding protein 3 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1606796 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12296675 HP1BP3 heterochromatin protein 1 binding protein 3 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1606796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12296675 HP1BP3 heterochromatin protein 1 binding protein 3 gene DOID:630 genetic disease ISO RGD:1606796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296675 HP1BP3 heterochromatin protein 1 binding protein 3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1606796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12296713 ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif 12 gene DOID:630 genetic disease ISO RGD:1316449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296713 ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12296713 ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif 12 gene DOID:9007096 Stroke susceptibility ISO RGD:1316449 D RGD:9068941 20200609 RGD DNA:SNP::rs1364044(human) PMID:22990015|REF_RGD_ID:9681739 12296742 DLGAP5 DLG associated protein 5 gene DOID:0080600 COVID-19 ISO RGD:1322602 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12296742 DLGAP5 DLG associated protein 5 gene DOID:630 genetic disease ISO RGD:1322602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296742 DLGAP5 DLG associated protein 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1322602 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12296765 KLHL10 kelch like family member 10 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1344199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:28492532|PMID:31479588 12296765 KLHL10 kelch like family member 10 gene DOID:0070180 spermatogenic failure 11 ISO RGD:1344199 D RGD:7240710 20180130 OMIM 12296765 KLHL10 kelch like family member 10 gene DOID:0070180 spermatogenic failure 11 ISO RGD:1344199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 11 PMID:17047026|PMID:25741868|PMID:28492532 12296765 KLHL10 kelch like family member 10 gene DOID:630 genetic disease ISO RGD:1344199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296774 BAZ2A bromodomain adjacent to zinc finger domain 2A gene DOID:630 genetic disease ISO RGD:1312828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296774 BAZ2A bromodomain adjacent to zinc finger domain 2A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25485837 12296814 IER3 immediate early response 3 gene DOID:0050553 JMP syndrome ISO RGD:1347080 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12296814 IER3 immediate early response 3 gene DOID:0080600 COVID-19 ISO RGD:1347080 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12296814 IER3 immediate early response 3 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1347080 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:14534530|REF_RGD_ID:1331843 12296814 IER3 immediate early response 3 gene DOID:10763 hypertension ISO RGD:1347080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20713914 12296814 IER3 immediate early response 3 gene DOID:11372 megacolon ISO RGD:1347080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12296814 IER3 immediate early response 3 gene DOID:2772 irritant dermatitis ISO RGD:1347080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 12296814 IER3 immediate early response 3 gene DOID:37 skin disease ISO RGD:1347080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12296814 IER3 immediate early response 3 gene DOID:9007964 Arsenic Poisoning ISO RGD:1347080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12296820 ITPR3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:0050553 JMP syndrome ISO RGD:733997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12296820 ITPR3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:0060041 autism spectrum disorder ISO RGD:10822 D RGD:9068941 20220825 MouseDO 12296820 ITPR3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:733997 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 12296820 ITPR3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:12849 autistic disorder ISO RGD:733997 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33166615 12296820 ITPR3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:2722 acrodermatitis ISO RGD:733997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 12296820 ITPR3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:630 genetic disease ISO RGD:733997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296820 ITPR3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:9002349 Charcot-Marie-Tooth Disease Type 1J ISO RGD:733997 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1J PMID:24627108|PMID:32949214 12296820 ITPR3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:9002349 Charcot-Marie-Tooth Disease Type 1J susceptibility ISO RGD:733997 D RGD:7240710 20230517 OMIM 12296820 ITPR3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:733997 D RGD:7240710 20230517 OMIM 12296899 CHRNB3 cholinergic receptor nicotinic beta 3 subunit gene DOID:0050742 nicotine dependence ISO RGD:1347400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20418888 12296899 CHRNB3 cholinergic receptor nicotinic beta 3 subunit gene DOID:0090039 torsion dystonia 6 ISO RGD:1347400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 12296899 CHRNB3 cholinergic receptor nicotinic beta 3 subunit gene DOID:0111959 immunodeficiency 15B ISO RGD:1347400 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 12296899 CHRNB3 cholinergic receptor nicotinic beta 3 subunit gene DOID:1470 major depressive disorder ISO RGD:1347400 D RGD:9068941 20220128 RGD mRNA:decreased expression:habenula: PMID:28420875|REF_RGD_ID:151347550 12296899 CHRNB3 cholinergic receptor nicotinic beta 3 subunit gene DOID:1596 depressive disorder ISO RGD:1347400 D RGD:9068941 20220128 RGD mRNA:decreased expression:habenula: PMID:28420875|REF_RGD_ID:151347550 12296899 CHRNB3 cholinergic receptor nicotinic beta 3 subunit gene DOID:1596 depressive disorder ISO RGD:621544 D RGD:9068941 20220128 RGD mRNA:decreased expression:habenula: PMID:28420875|REF_RGD_ID:151347550 12296899 CHRNB3 cholinergic receptor nicotinic beta 3 subunit gene DOID:630 genetic disease ISO RGD:1347400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296899 CHRNB3 cholinergic receptor nicotinic beta 3 subunit gene DOID:9001310 Tobacco Use Disorder ISO RGD:1347400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28851948 12296899 CHRNB3 cholinergic receptor nicotinic beta 3 subunit gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:1347400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 12296899 CHRNB3 cholinergic receptor nicotinic beta 3 subunit gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1347400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 12296909 GPS1 G protein pathway suppressor 1 gene DOID:630 genetic disease ISO RGD:732073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296925 GNA14 G protein subunit alpha 14 gene DOID:0050766 choreaacanthocytosis ISO RGD:1317712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chorea-acanthocytosis PMID:15918062 12296925 GNA14 G protein subunit alpha 14 gene DOID:0080075 Neu-Laxova syndrome 2 ISO RGD:1317712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neu-Laxova syndrome 2 PMID:17436247|PMID:25152457|PMID:28492532 12296925 GNA14 G protein subunit alpha 14 gene DOID:630 genetic disease ISO RGD:1317712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296925 GNA14 G protein subunit alpha 14 gene DOID:9001384 Kaposiform Hemangioendothelioma ISO RGD:1317712 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Kaposiform hemangioendothelioma PMID:25741868|PMID:27476652 12296925 GNA14 G protein subunit alpha 14 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12296925 GNA14 G protein subunit alpha 14 gene DOID:9002189 High Myopia ISO RGD:1317712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12296936 LOC484314 T-cell-interacting, activating receptor on myeloid cells protein 1-like gene DOID:630 genetic disease ISO RGD:3399181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296970 CAMK1 calcium/calmodulin dependent protein kinase I gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:731618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 12296970 CAMK1 calcium/calmodulin dependent protein kinase I gene DOID:2843 long QT syndrome ISO RGD:731618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12296970 CAMK1 calcium/calmodulin dependent protein kinase I gene DOID:630 genetic disease ISO RGD:731618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296970 CAMK1 calcium/calmodulin dependent protein kinase I gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12296970 CAMK1 calcium/calmodulin dependent protein kinase I gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:731618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12296986 ZIC2 Zic family member 2 gene DOID:0080074 neural tube defect ISO RGD:1322491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15136147 12296986 ZIC2 Zic family member 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1322491 D RGD:7240710 20180130 OMIM 12296986 ZIC2 Zic family member 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1322491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:11285244|PMID:15590697|PMID:17274816|PMID:17576681|PMID:19177455|PMID:19955556|PMID:21638761|PMID:21940735|PMID:21990207|PMID:22847929|PMID:25741868|PMID:28492532|PMID:29770992|PMID:29992659|PMID:32022405|PMID:9536098|PMID:9771712 12296986 ZIC2 Zic family member 2 gene DOID:0110881 holoprosencephaly 1 ISO RGD:1322491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 1 PMID:22859937 12296986 ZIC2 Zic family member 2 gene DOID:14701 propionic acidemia ISO RGD:1322491 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 12296986 ZIC2 Zic family member 2 gene DOID:1561 cognitive disorder ISO RGD:1322492 D RGD:9068941 20200609 RGD PMID:22355535|REF_RGD_ID:11561947 12296986 ZIC2 Zic family member 2 gene DOID:4621 holoprosencephaly ISO RGD:1322491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Lobar holoprosencephaly PMID:25741868 12296986 ZIC2 Zic family member 2 gene DOID:5419 schizophrenia ISO RGD:1322492 D RGD:9068941 20220825 MouseDO OMIM:181500 12296986 ZIC2 Zic family member 2 gene DOID:630 genetic disease ISO RGD:1322491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15221788|PMID:15590697|PMID:19177455|PMID:25741868|PMID:25954003|PMID:27466203|PMID:27618451|PMID:28490743|PMID:28492532|PMID:29992973|PMID:32022405 12296986 ZIC2 Zic family member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1322491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12296986 ZIC2 Zic family member 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17173048 12296986 ZIC2 Zic family member 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1322491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12296986 ZIC2 Zic family member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12296991 SP1 Sp1 transcription factor gene DOID:4195 hyperglycemia ISO RGD:732035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11696579 12296991 SP1 Sp1 transcription factor gene DOID:630 genetic disease ISO RGD:732035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12296991 SP1 Sp1 transcription factor gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:732035 D RGD:9068941 20200609 RGD protein:increased phosphorylation:smooth muscle cell: PMID:18258854|REF_RGD_ID:9854624 12296991 SP1 Sp1 transcription factor gene DOID:9000918 Disease Progression ISO RGD:732035 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35072892 12296991 SP1 Sp1 transcription factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:732035 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:12538496|PMID:35072892 12296991 SP1 Sp1 transcription factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12296991 SP1 Sp1 transcription factor gene DOID:9004464 Skin Neoplasms ISO RGD:732035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22009531 12296991 SP1 Sp1 transcription factor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732035 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:26317792|PMID:35072892 12296991 SP1 Sp1 transcription factor gene DOID:9006182 Carotid Artery Injuries ISO RGD:3738 D RGD:9068941 20200609 RGD protein:increased phosphorylation:smooth muscle cell: PMID:18258854|REF_RGD_ID:9854624 12296991 SP1 Sp1 transcription factor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22009531 12296991 SP1 Sp1 transcription factor gene DOID:9008443 Colorectal Neoplasms ISO RGD:732035 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35072892 12297007 CHAT choline O-acetyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:1312173 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12297007 CHAT choline O-acetyltransferase gene DOID:0110671 congenital myasthenic syndrome 6 IAGP D RGD:12801476 20210603 OMIA Myasthenic syndrome, congenital, CHAT-related PMID:17586598|PMID:7201985|PMID:32668077 12297007 CHAT choline O-acetyltransferase gene DOID:0110671 congenital myasthenic syndrome 6 ISO RGD:1312173 D RGD:7240710 20180130 OMIM 12297007 CHAT choline O-acetyltransferase gene DOID:0110671 congenital myasthenic syndrome 6 ISO RGD:1312173 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial infantile myasthenia PMID:11172068|PMID:12548525|PMID:12756141|PMID:15381704|PMID:15701560|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19520274|PMID:19900826|PMID:21786365|PMID:21948486|PMID:22678886|PMID:23292760|PMID:24033266|PMID:25741868|PMID:26080897|PMID:26467025|PMID:26789281|PMID:28492532|PMID:28497657|PMID:28991257|PMID:29054425|PMID:29189923|PMID:32368696|PMID:9073174|PMID:9536098 12297007 CHAT choline O-acetyltransferase gene DOID:0110671 congenital myasthenic syndrome 6 susceptibility ISO RGD:1312173 D RGD:9068941 20200609 RGD DNA:frameshift mutation, missense mutations PMID:11172068|REF_RGD_ID:1600831 12297007 CHAT choline O-acetyltransferase gene DOID:0110672 congenital myasthenic syndrome 21 ISO RGD:1312173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 21 PMID:25741868|PMID:27590285|PMID:28492532 12297007 CHAT choline O-acetyltransferase gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:1312173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C PMID:25741868 12297007 CHAT choline O-acetyltransferase gene DOID:10652 Alzheimer's disease ISO RGD:1304627 D RGD:9068941 20200609 RGD PMID:16834974|REF_RGD_ID:1600851 12297007 CHAT choline O-acetyltransferase gene DOID:10652 Alzheimer's disease ISO RGD:1312173 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:4G>A PMID:12401548|REF_RGD_ID:1358495 12297007 CHAT choline O-acetyltransferase gene DOID:11372 megacolon ISO RGD:1312173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12297007 CHAT choline O-acetyltransferase gene DOID:12858 Huntington's disease ISO RGD:1549990 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex PMID:16987871|REF_RGD_ID:5686805 12297007 CHAT choline O-acetyltransferase gene DOID:13550 angle-closure glaucoma ISO RGD:1312173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27064256 12297007 CHAT choline O-acetyltransferase gene DOID:2841 asthma ISO RGD:1304627 D RGD:9068941 20200609 RGD Protein:decreased expression:lung epithelium PMID:17328924|REF_RGD_ID:5686690 12297007 CHAT choline O-acetyltransferase gene DOID:3635 congenital myasthenic syndrome ISO RGD:1312173 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:11172068|PMID:12548525|PMID:21786365|PMID:22678886|PMID:23292760|PMID:24033266|PMID:25741868|PMID:26080897|PMID:28492532|PMID:28497657|PMID:28991257|PMID:29189923|PMID:32368696 12297007 CHAT choline O-acetyltransferase gene DOID:535 sleep disorder ISO RGD:1312173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sleep disturbance PMID:25741868 12297007 CHAT choline O-acetyltransferase gene DOID:5419 schizophrenia ISO RGD:1312173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12297007 CHAT choline O-acetyltransferase gene DOID:5679 retinal disease ISO RGD:1312173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 12297007 CHAT choline O-acetyltransferase gene DOID:630 genetic disease ISO RGD:1312173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12297007 CHAT choline O-acetyltransferase gene DOID:9004009 Reperfusion Injury ISO RGD:1312173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 12297007 CHAT choline O-acetyltransferase gene DOID:9220 central sleep apnea ISO RGD:1312173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Apnea, central sleep PMID:15701560|PMID:25741868|PMID:28492532 12297007 Chat choline O-acetyltransferase gene DOID:1596 depressive disorder ISO RGD:1304627 D RGD:9068941 20220128 RGD PMID:28420875|REF_RGD_ID:151347550 12297026 MINDY3 MINDY lysine 48 deubiquitinase 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1320032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12297026 MINDY3 MINDY lysine 48 deubiquitinase 3 gene DOID:630 genetic disease ISO RGD:1320032 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12297026 MINDY3 MINDY lysine 48 deubiquitinase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12297045 RGSL1 regulator of G protein signaling like 1 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1353178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12297045 RGSL1 regulator of G protein signaling like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1353178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12297045 RGSL1 regulator of G protein signaling like 1 gene DOID:630 genetic disease ISO RGD:1353178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12297045 RGSL1 regulator of G protein signaling like 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1353178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12297045 RGSL1 regulator of G protein signaling like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12297099 ANKRD9 ankyrin repeat domain 9 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1316983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12297099 ANKRD9 ankyrin repeat domain 9 gene DOID:0110801 hereditary spastic paraplegia 49 ISO RGD:1316983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 PMID:28492532 12297099 ANKRD9 ankyrin repeat domain 9 gene DOID:630 genetic disease ISO RGD:1316983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12297099 ANKRD9 ankyrin repeat domain 9 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1316983 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12297119 RNASEH2B ribonuclease H2 subunit B gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1606240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:16199547|PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:31130284|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33967934 12297119 RNASEH2B ribonuclease H2 subunit B gene DOID:0060041 autism spectrum disorder ISO RGD:1606240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:31130284|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33967934 12297119 RNASEH2B ribonuclease H2 subunit B gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1606240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12297119 RNASEH2B ribonuclease H2 subunit B gene DOID:1059 intellectual disability ISO RGD:1606240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12297119 RNASEH2B ribonuclease H2 subunit B gene DOID:1969 cerebral palsy ISO RGD:1606240 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:31130284|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33967934 12297119 RNASEH2B ribonuclease H2 subunit B gene DOID:630 genetic disease ISO RGD:1606240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12297119 RNASEH2B ribonuclease H2 subunit B gene DOID:893 Wilson disease ISO RGD:1606240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:28492532 12297119 RNASEH2B ribonuclease H2 subunit B gene DOID:9003907 Aicardi-Goutieres Syndrome 2 ISO RGD:1606240 D RGD:7240710 20180130 OMIM 12297119 RNASEH2B ribonuclease H2 subunit B gene DOID:9003907 Aicardi-Goutieres Syndrome 2 ISO RGD:1606240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 PMID:16199547|PMID:16845400|PMID:17576681|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:22149989|PMID:23165795|PMID:24033266|PMID:24183309|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26633542|PMID:26846091|PMID:26860721|PMID:26903602|PMID:27009121|PMID:28332073|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30889214|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:32488064|PMID:33084218|PMID:33258288|PMID:33482855|PMID:33967934|PMID:9536098 12297119 RNASEH2B ribonuclease H2 subunit B gene DOID:9006534 Nervous System Malformations ISO RGD:1606240 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:31130284|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33967934 12297119 RNASEH2B ribonuclease H2 subunit B gene DOID:9008086 Developmental Disabilities ISO RGD:1606240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 12297141 CBX4 chromobox 4 gene DOID:630 genetic disease ISO RGD:1348844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12297141 CBX4 chromobox 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1348844 D RGD:9068941 20200609 RGD PMID:24838576|REF_RGD_ID:9586738 12297141 CBX4 chromobox 4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1348844 D RGD:9068941 20200609 RGD protein:increased expression:cytoplasm: PMID:23943028|REF_RGD_ID:9586739 12297141 CBX4 chromobox 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348844 D RGD:9068941 20200609 RGD associated with Carcinoma, Hepatocellular; PMID:24838576|REF_RGD_ID:9586738 12297141 CBX4 chromobox 4 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1348844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 12297149 MRPL57 mitochondrial ribosomal protein L57 gene DOID:630 genetic disease ISO RGD:1321750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12297165 LOC100687228 ribosomal protein L34 pseudogene gene DOID:630 genetic disease ISO RGD:1319729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12297166 ZNF485 zinc finger protein 485 gene DOID:630 genetic disease ISO RGD:1349192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12297185 MIR128-2 microRNA mir-128-2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1347002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12297185 MIR128-2 microRNA mir-128-2 gene DOID:9256 colorectal cancer ISO RGD:1347002 D RGD:9068941 20220811 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12297257 ANKRD46 ankyrin repeat domain 46 gene DOID:0111590 Cohen syndrome ISO RGD:1606443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12297257 ANKRD46 ankyrin repeat domain 46 gene DOID:630 genetic disease ISO RGD:1606443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12297270 XPO7 exportin 7 gene DOID:0060224 atrial fibrillation ISO RGD:1322111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12297270 XPO7 exportin 7 gene DOID:630 genetic disease ISO RGD:1322111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12297305 AP4B1 adaptor related protein complex 4 subunit beta 1 gene DOID:0080690 RASopathy ISO RGD:1321485 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12297305 AP4B1 adaptor related protein complex 4 subunit beta 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1321485 D RGD:7240710 20180130 OMIM 12297305 AP4B1 adaptor related protein complex 4 subunit beta 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1321485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AP4-related intellectual disability and spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:16199547|PMID:17576681|PMID:18414213|PMID:21440262|PMID:21620353|PMID:22290197|PMID:24700674|PMID:24781758|PMID:25167861|PMID:25693842|PMID:25741868|PMID:26544806|PMID:27625858|PMID:28492532|PMID:29193663|PMID:31915823|PMID:32964447|PMID:32979048|PMID:33594065|PMID:9536098 12297305 AP4B1 adaptor related protein complex 4 subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:1321485 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21440262|PMID:21620353|PMID:22290197|PMID:24700674|PMID:24781758|PMID:25167861|PMID:25741868|PMID:26544806|PMID:28492532|PMID:29193663|PMID:32979048 12297305 AP4B1 adaptor related protein complex 4 subunit beta 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1321485 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:22290197|PMID:24700674|PMID:24781758|PMID:25167861|PMID:25741868|PMID:26544806|PMID:28492532|PMID:28832565|PMID:29193663|PMID:32979048|PMID:33594065 12297305 AP4B1 adaptor related protein complex 4 subunit beta 1 gene DOID:607 paraplegia ISO RGD:1321485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:18414213|PMID:21440262|PMID:21620353|PMID:22290197|PMID:24700674|PMID:24781758|PMID:25693842|PMID:25741868|PMID:26539891|PMID:27625858|PMID:28492532|PMID:29193663|PMID:31915823|PMID:32979048|PMID:33594065|PMID:9536098 12297305 AP4B1 adaptor related protein complex 4 subunit beta 1 gene DOID:630 genetic disease ISO RGD:1321485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:21440262|PMID:21620353|PMID:22290197|PMID:24700674|PMID:24781758|PMID:25167861|PMID:25693842|PMID:25741868|PMID:26544806|PMID:27625858|PMID:28492532|PMID:29193663|PMID:31915823|PMID:32979048|PMID:9536098 12297305 AP4B1 adaptor related protein complex 4 subunit beta 1 gene DOID:9001272 Hoyeraal Hreidarsson Syndrome ISO RGD:1321485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome PMID:28492532 12297305 AP4B1 adaptor related protein complex 4 subunit beta 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1321485 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:21440262|PMID:21620353|PMID:22290197|PMID:24700674|PMID:24781758|PMID:25741868|PMID:28492532|PMID:29193663|PMID:32979048 12297336 C26H22orf39 chromosome 26 C22orf39 homolog gene DOID:0060041 autism spectrum disorder ISO RGD:1606462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12297336 C26H22orf39 chromosome 26 C22orf39 homolog gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1606462 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12297336 C26H22orf39 chromosome 26 C22orf39 homolog gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1606462 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12297336 C26H22orf39 chromosome 26 C22orf39 homolog gene DOID:0111996 immunodeficiency 51 ISO RGD:1606462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12297336 C26H22orf39 chromosome 26 C22orf39 homolog gene DOID:1059 intellectual disability ISO RGD:1606462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12297336 C26H22orf39 chromosome 26 C22orf39 homolog gene DOID:11198 DiGeorge syndrome ISO RGD:1606462 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12297336 C26H22orf39 chromosome 26 C22orf39 homolog gene DOID:11372 megacolon ISO RGD:1606462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12297336 C26H22orf39 chromosome 26 C22orf39 homolog gene DOID:12583 velocardiofacial syndrome ISO RGD:1606462 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12297336 C26H22orf39 chromosome 26 C22orf39 homolog gene DOID:12849 autistic disorder ISO RGD:1606462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12297336 C26H22orf39 chromosome 26 C22orf39 homolog gene DOID:1826 epilepsy ISO RGD:1606462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12297336 C26H22orf39 chromosome 26 C22orf39 homolog gene DOID:5419 schizophrenia ISO RGD:1606462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12297336 C26H22orf39 chromosome 26 C22orf39 homolog gene DOID:612 primary immunodeficiency disease ISO RGD:1606462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12297336 C26H22orf39 chromosome 26 C22orf39 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12297336 C26H22orf39 chromosome 26 C22orf39 homolog gene DOID:9007661 Dwarfism ISO RGD:1606462 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12297336 C26H22orf39 chromosome 26 C22orf39 homolog gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1606462 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12297343 PRTFDC1 phosphoribosyl transferase domain containing 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1320925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17599052 12297343 PRTFDC1 phosphoribosyl transferase domain containing 1 gene DOID:630 genetic disease ISO RGD:1320925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12297343 PRTFDC1 phosphoribosyl transferase domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12297343 PRTFDC1 phosphoribosyl transferase domain containing 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1320925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303177 12297343 PRTFDC1 phosphoribosyl transferase domain containing 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:1320925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17599052 12297356 WASF2 WASP family member 2 gene DOID:630 genetic disease ISO RGD:1316411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12297375 DCDC2 doublecortin domain containing 2 gene DOID:0050563 nonsyndromic deafness ISO RGD:1321007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Deafness PMID:16244493|PMID:25601850 12297375 DCDC2 doublecortin domain containing 2 gene DOID:0060175 succinic semialdehyde dehydrogenase deficiency ISO RGD:1321007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency PMID:28492532 12297375 DCDC2 doublecortin domain containing 2 gene DOID:0060357 chylomicron retention disease ISO RGD:1321007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chylomicron retention disease PMID:25741868|PMID:27469900 12297375 DCDC2 doublecortin domain containing 2 gene DOID:0110517 autosomal recessive nonsyndromic deafness 66 ISO RGD:1321007 D RGD:7240710 20180130 OMIM 12297375 DCDC2 doublecortin domain containing 2 gene DOID:0110517 autosomal recessive nonsyndromic deafness 66 ISO RGD:1321007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 66 PMID:16199547|PMID:16244493|PMID:23677054|PMID:23746548|PMID:25557784|PMID:25601850|PMID:25741868|PMID:26467025|PMID:27319779|PMID:27469900|PMID:28440294|PMID:28461130|PMID:28461131|PMID:28492532|PMID:31589614|PMID:31821705 12297375 DCDC2 doublecortin domain containing 2 gene DOID:0111126 nephronophthisis 19 ISO RGD:1321007 D RGD:7240710 20180130 OMIM 12297375 DCDC2 doublecortin domain containing 2 gene DOID:0111126 nephronophthisis 19 ISO RGD:1321007 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis 19 PMID:25557784|PMID:25741868|PMID:26467025|PMID:27319779|PMID:27469900|PMID:28492532|PMID:31589614|PMID:31821705 12297375 DCDC2 doublecortin domain containing 2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1321007 D RGD:9068941 20200609 RGD DNA:snp:intron:c.923-1870T>C (human) (rs793862) PMID:27501527|REF_RGD_ID:12910980 12297375 DCDC2 doublecortin domain containing 2 gene DOID:14268 sclerosing cholangitis ISO RGD:1321007 D RGD:7240710 20220420 OMIM 12297375 DCDC2 doublecortin domain containing 2 gene DOID:14268 sclerosing cholangitis ISO RGD:1321007 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Isolated neonatal sclerosing cholangitis PMID:16199547|PMID:23677054|PMID:23746548|PMID:25557784|PMID:25741868|PMID:26467025|PMID:27319779|PMID:27469900|PMID:28440294|PMID:28461130|PMID:28461131|PMID:28492532|PMID:31589614|PMID:31821705 12297375 DCDC2 doublecortin domain containing 2 gene DOID:4428 dyslexia ISO RGD:1622142 D RGD:9068941 20200609 RGD PMID:25130614|REF_RGD_ID:12910976 12297375 DCDC2 doublecortin domain containing 2 gene DOID:4428 dyslexia susceptibility ISO RGD:1321007 D RGD:9068941 20200609 RGD DNA:deletion, snps:introns:multiple (human) PMID:19238550|REF_RGD_ID:12910975 12297375 DCDC2 doublecortin domain containing 2 gene DOID:4428 dyslexia susceptibility ISO RGD:1321007 D RGD:9068941 20200609 RGD DNA:snp:intron:c.760-430G>A (human) (rs807724) PMID:27100778|REF_RGD_ID:11532935 12297375 DCDC2 doublecortin domain containing 2 gene DOID:4428 dyslexia susceptibility ISO RGD:1321007 D RGD:9068941 20200609 RGD DNA:snps:introns:c.558-3950G>C, c.1326+252C>T (human) (rs1091047, rs1419228) PMID:20068590|REF_RGD_ID:12910973 12297375 DCDC2 doublecortin domain containing 2 gene DOID:4428 dyslexia susceptibility ISO RGD:1321007 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:22750057|REF_RGD_ID:12910971 12297375 DCDC2 doublecortin domain containing 2 gene DOID:630 genetic disease ISO RGD:1321007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12297389 STS steroid sulfatase gene DOID:0060041 autism spectrum disorder ISO RGD:735809 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12297389 STS steroid sulfatase gene DOID:0080600 COVID-19 ISO RGD:735809 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12297389 STS steroid sulfatase gene DOID:10763 hypertension ISO RGD:3783 D RGD:9068941 20200609 RGD protein:increased expression:multiple organs PMID:8539776|REF_RGD_ID:1601393 12297389 STS steroid sulfatase gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:735809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18413370 12297389 STS steroid sulfatase gene DOID:11383 cryptorchidism ISO RGD:3783 D RGD:9068941 20200609 RGD protein:increased expression:scrotum, testis PMID:2576297|REF_RGD_ID:1601402 12297389 STS steroid sulfatase gene DOID:12351 alcoholic hepatitis ISO RGD:735809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26220752 12297389 STS steroid sulfatase gene DOID:12849 autistic disorder ISO RGD:735809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12297389 STS steroid sulfatase gene DOID:13938 amenorrhea ISO RGD:735809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12297389 STS steroid sulfatase gene DOID:1700 X-linked ichthyosis ISO RGD:735809 D RGD:7240710 20180130 OMIM 12297389 STS steroid sulfatase gene DOID:1700 X-linked ichthyosis ISO RGD:735809 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ichthyosis, X-Linked | ClinVar Annotator: match by term: Placental steroid sulfatase deficiency | ClinVar Annotator: match by term: Recessive X-linked ichthyosis PMID:1539590|PMID:18413370|PMID:25741868|PMID:2668275|PMID:28492532|PMID:3007328|PMID:3032454|PMID:7208152|PMID:9252398 12297389 STS steroid sulfatase gene DOID:1969 cerebral palsy ISO RGD:735809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12297389 STS steroid sulfatase gene DOID:5419 schizophrenia ISO RGD:735809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12297389 STS steroid sulfatase gene DOID:543 dystonia ISO RGD:735809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12297389 STS steroid sulfatase gene DOID:630 genetic disease ISO RGD:735809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12297389 STS steroid sulfatase gene DOID:7148 rheumatoid arthritis ISO RGD:735809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 12297389 STS steroid sulfatase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12297389 STS steroid sulfatase gene DOID:9004657 Weight Gain ISO RGD:735809 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24497646 12297389 STS steroid sulfatase gene DOID:9005372 Inflammation ISO RGD:735809 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24497646 12297389 STS steroid sulfatase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735809 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24497646 12297389 STS steroid sulfatase gene DOID:9007692 Insulin Resistance ISO RGD:735809 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24497646 12297389 STS steroid sulfatase gene DOID:9452 fatty liver disease ISO RGD:735809 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24497646 12297389 STS steroid sulfatase gene DOID:9970 obesity ISO RGD:735809 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24497646 12297403 PNCK pregnancy up-regulated nonubiquitous CaM kinase gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1605290 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12297403 PNCK pregnancy up-regulated nonubiquitous CaM kinase gene DOID:0050476 Barth syndrome ISO RGD:1605290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12297403 PNCK pregnancy up-regulated nonubiquitous CaM kinase gene DOID:0050800 creatine transporter deficiency ISO RGD:1605290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12297403 PNCK pregnancy up-regulated nonubiquitous CaM kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12297403 PNCK pregnancy up-regulated nonubiquitous CaM kinase gene DOID:0112003 immunodeficiency 33 ISO RGD:1605290 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12297403 PNCK pregnancy up-regulated nonubiquitous CaM kinase gene DOID:10588 adrenoleukodystrophy ISO RGD:1605290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12297403 PNCK pregnancy up-regulated nonubiquitous CaM kinase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1605290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12297403 PNCK pregnancy up-regulated nonubiquitous CaM kinase gene DOID:12849 autistic disorder ISO RGD:1605290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12297403 PNCK pregnancy up-regulated nonubiquitous CaM kinase gene DOID:13628 favism ISO RGD:1605290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12297403 PNCK pregnancy up-regulated nonubiquitous CaM kinase gene DOID:2729 dyskeratosis congenita ISO RGD:1605290 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12297403 PNCK pregnancy up-regulated nonubiquitous CaM kinase gene DOID:607 paraplegia ISO RGD:1605290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12297403 PNCK pregnancy up-regulated nonubiquitous CaM kinase gene DOID:630 genetic disease ISO RGD:1605290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12297403 PNCK pregnancy up-regulated nonubiquitous CaM kinase gene DOID:9002720 Splenomegaly ISO RGD:1605290 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12297415 SBDS SBDS ribosome maturation factor gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:1322290 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:16867904|PMID:17478638|PMID:17916435|PMID:19148133|PMID:20301722|PMID:21695142|PMID:22491737|PMID:22934832|PMID:22935661|PMID:23351992|PMID:24033266|PMID:24388329|PMID:24629175|PMID:24898207|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26479198|PMID:26822237|PMID:28509441|PMID:31321910|PMID:32150944|PMID:32581362 12297415 SBDS SBDS ribosome maturation factor gene DOID:0060479 Shwachman-Diamond syndrome susceptibility ISO RGD:1322290 D RGD:7240710 20230510 OMIM 12297415 SBDS SBDS ribosome maturation factor gene DOID:1059 intellectual disability ISO RGD:1322290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12297415 SBDS SBDS ribosome maturation factor gene DOID:12449 aplastic anemia ISO RGD:1322290 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Aplastic anemia, susceptibility to PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:16867904|PMID:17478638|PMID:19148133|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26822237|PMID:32150944|PMID:32581362 12297415 SBDS SBDS ribosome maturation factor gene DOID:12449 aplastic anemia susceptibility ISO RGD:1322290 D RGD:7240710 20230510 OMIM 12297415 SBDS SBDS ribosome maturation factor gene DOID:14755 argininosuccinic aciduria ISO RGD:1322290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:28492532 12297415 SBDS SBDS ribosome maturation factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12297415 SBDS SBDS ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1322290 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:16867904|PMID:17478638|PMID:17916435|PMID:19148133|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:23351992|PMID:24033266|PMID:24388329|PMID:24629175|PMID:24898207|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26822237|PMID:28509441|PMID:31321910|PMID:32150944|PMID:32581362 12297415 SBDS SBDS ribosome maturation factor gene DOID:9007661 Dwarfism ISO RGD:1322290 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Short stature PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:16867904|PMID:17478638|PMID:19148133|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26822237|PMID:32150944|PMID:32581362 12297429 ZBTB17 zinc finger and BTB domain containing 17 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1347626 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12297429 ZBTB17 zinc finger and BTB domain containing 17 gene DOID:630 genetic disease ISO RGD:1347626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12297449 MCEMP1 mast cell expressed membrane protein 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1604975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12297449 MCEMP1 mast cell expressed membrane protein 1 gene DOID:0080600 COVID-19 ISO RGD:1604975 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12297449 MCEMP1 mast cell expressed membrane protein 1 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1604975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 12297449 MCEMP1 mast cell expressed membrane protein 1 gene DOID:630 genetic disease ISO RGD:1604975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12297460 ALX3 ALX homeobox 3 gene DOID:0080074 neural tube defect ISO RGD:1352384 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:20534379 12297460 ALX3 ALX homeobox 3 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1352384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 12297460 ALX3 ALX homeobox 3 gene DOID:0081044 frontonasal dysplasia ISO RGD:1352384 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Frontorhiny PMID:17963218|PMID:19409524|PMID:25741868 12297460 ALX3 ALX homeobox 3 gene DOID:0081045 frontonasal dysplasia 1 ISO RGD:1352384 D RGD:7240710 20180130 OMIM 12297460 ALX3 ALX homeobox 3 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1352384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12297460 ALX3 ALX homeobox 3 gene DOID:12849 autistic disorder ISO RGD:1352384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12297460 ALX3 ALX homeobox 3 gene DOID:630 genetic disease ISO RGD:1352384 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12297479 SON SON DNA and RNA binding protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1319118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12297479 SON SON DNA and RNA binding protein gene DOID:0060898 Parkinson's disease 20 ISO RGD:1319118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12297479 SON SON DNA and RNA binding protein gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1319118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12297479 SON SON DNA and RNA binding protein gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1319118 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12297479 SON SON DNA and RNA binding protein gene DOID:0110770 hereditary spastic paraplegia 17 ISO RGD:1319118 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 PMID:25590979|PMID:25741868|PMID:25741875|PMID:27256762|PMID:27545676|PMID:27545680|PMID:28492532|PMID:34521999 12297479 SON SON DNA and RNA binding protein gene DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay ISO RGD:1319118 D RGD:9068941 20221110 RGD DNA:missense mutations:exon 3:multiple (human) PMID:31005274|REF_RGD_ID:155641262 12297479 SON SON DNA and RNA binding protein gene DOID:1059 intellectual disability ISO RGD:1319118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12297479 SON SON DNA and RNA binding protein gene DOID:630 genetic disease ISO RGD:1319118 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25590979|PMID:25741868|PMID:25741875|PMID:27256762|PMID:27545676|PMID:27545680|PMID:28492532|PMID:34521999 12297479 SON SON DNA and RNA binding protein gene DOID:8469 influenza ISO RGD:1319119 D RGD:9068941 20221110 RGD PMID:34883209|REF_RGD_ID:155641258 12297479 SON SON DNA and RNA binding protein gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1319118 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12297479 SON SON DNA and RNA binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319118 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25590979|PMID:25741868|PMID:25741875|PMID:27256762|PMID:27545676|PMID:27545680|PMID:28492532|PMID:34521999 12297479 SON SON DNA and RNA binding protein gene DOID:9005698 ZTTK Syndrome ISO RGD:1319118 D RGD:7240710 20210114 OMIM 12297479 SON SON DNA and RNA binding protein gene DOID:9005698 ZTTK Syndrome ISO RGD:1319118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25590979|PMID:25741868|PMID:25741875|PMID:27256762|PMID:27545676|PMID:27545680|PMID:28135719|PMID:28492532|PMID:32368696|PMID:34521999 12297479 SON SON DNA and RNA binding protein gene DOID:9008086 Developmental Disabilities ISO RGD:1319118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25590979|PMID:25741868|PMID:25741875|PMID:27256762|PMID:27545676|PMID:27545680|PMID:28135719|PMID:28492532|PMID:34521999 12297479 SON SON DNA and RNA binding protein gene DOID:9008582 Developmental Disease ISO RGD:1319118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12297542 GNB3 G protein subunit beta 3 gene DOID:0050534 congenital stationary night blindness ISO RGD:1346162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12297542 GNB3 G protein subunit beta 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1346162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12297542 GNB3 G protein subunit beta 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1346162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12297542 GNB3 G protein subunit beta 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1346162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12297542 GNB3 G protein subunit beta 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1346162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12297542 GNB3 G protein subunit beta 3 gene DOID:0110866 congenital stationary night blindness 1H ISO RGD:1346162 D RGD:7240710 20230517 OMIM 12297542 GNB3 G protein subunit beta 3 gene DOID:0110866 congenital stationary night blindness 1H ISO RGD:1346162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1H PMID:10477144|PMID:10523525|PMID:10770297|PMID:10770309|PMID:10770310|PMID:11322952|PMID:12668921|PMID:25741868|PMID:27063057|PMID:28492532|PMID:9425898 12297542 GNB3 G protein subunit beta 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1346162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12297542 GNB3 G protein subunit beta 3 gene DOID:10763 hypertension ISO RGD:1346162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15961981|PMID:16141801 12297542 GNB3 G protein subunit beta 3 gene DOID:10763 hypertension no_association ISO RGD:1346162 D RGD:9068941 20200609 RGD DNA:polymorphism: :multiple (human) PMID:16908025|REF_RGD_ID:2313206 12297542 GNB3 G protein subunit beta 3 gene DOID:10763 hypertension susceptibility ISO RGD:1346162 D RGD:9068941 20200806 RGD DNA:SNP:cds: 825C>T (human) PMID:11230982|REF_RGD_ID:1580408 12297542 GNB3 G protein subunit beta 3 gene DOID:10763 hypertension susceptibility ISO RGD:1346162 D RGD:9068941 20200806 RGD DNA:SNP:cds:825C>T (human) PMID:10526907|REF_RGD_ID:1580410 12297542 GNB3 G protein subunit beta 3 gene DOID:10825 essential hypertension ISO RGD:1346162 D RGD:7240710 20230517 OMIM 12297542 GNB3 G protein subunit beta 3 gene DOID:10825 essential hypertension ISO RGD:1346162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension, essential, susceptibility to PMID:10477144|PMID:10523525|PMID:10770297|PMID:10770309|PMID:10770310|PMID:11322952|PMID:12668921|PMID:25741868|PMID:28492532|PMID:9425898 12297542 GNB3 G protein subunit beta 3 gene DOID:1168 familial hyperlipidemia susceptibility ISO RGD:1346162 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :825C>T (human) PMID:17161225|REF_RGD_ID:2313205 12297542 GNB3 G protein subunit beta 3 gene DOID:1596 depressive disorder susceptibility ISO RGD:1346162 D RGD:9068941 20200806 RGD DNA:SNP:cds: 825C>T (human) PMID:12634518|REF_RGD_ID:1358639 12297542 GNB3 G protein subunit beta 3 gene DOID:3393 coronary artery disease ISO RGD:1346162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16141801 12297542 GNB3 G protein subunit beta 3 gene DOID:3407 carotid artery disease ISO RGD:1346162 D RGD:9068941 20200609 RGD PMID:12624279|REF_RGD_ID:1580411 12297542 GNB3 G protein subunit beta 3 gene DOID:630 genetic disease ISO RGD:1346162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12297542 GNB3 G protein subunit beta 3 gene DOID:9004657 Weight Gain ISO RGD:1346162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16141801 12297542 GNB3 G protein subunit beta 3 gene DOID:9005950 Orthostatic Hypotension susceptibility ISO RGD:1346162 D RGD:9068941 20200609 RGD DNA:SNP: : 825C>T (human) PMID:11910300|REF_RGD_ID:1580406 12297542 GNB3 G protein subunit beta 3 gene DOID:9007692 Insulin Resistance ISO RGD:1346162 D RGD:9068941 20200609 RGD DNA:polymorphism: :825C>T (human) PMID:12624279|REF_RGD_ID:1580411 12297542 GNB3 G protein subunit beta 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1346162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12297542 GNB3 G protein subunit beta 3 gene DOID:9351 diabetes mellitus no_association ISO RGD:1346162 D RGD:9068941 20200609 RGD DNA:polymorphism: :multiple (human) PMID:16908025|REF_RGD_ID:2313206 12297542 GNB3 G protein subunit beta 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12511541 12297542 GNB3 G protein subunit beta 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346162 D RGD:9068941 20200609 RGD DNA:polymorphism: :825C>T (human) PMID:18656447|REF_RGD_ID:2313204 12297542 GNB3 G protein subunit beta 3 gene DOID:9970 obesity ISO RGD:1346162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15961981|PMID:16141801 12297562 XRCC2 X-ray repair cross complementing 2 gene DOID:0080874 primary ovarian insufficiency 17 ISO RGD:1349181 D RGD:7240710 20210113 OMIM 12297562 XRCC2 X-ray repair cross complementing 2 gene DOID:0080874 primary ovarian insufficiency 17 ISO RGD:1349181 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 17 PMID:30042186|PMID:30489636|PMID:33194656 12297562 XRCC2 X-ray repair cross complementing 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1349181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:18348270|PMID:25606385|PMID:28492532 12297562 XRCC2 X-ray repair cross complementing 2 gene DOID:0111085 Fanconi anemia complementation group U ISO RGD:1349181 D RGD:7240710 20190315 OMIM 12297562 XRCC2 X-ray repair cross complementing 2 gene DOID:0111085 Fanconi anemia complementation group U ISO RGD:1349181 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group U PMID:11118202|PMID:22232082|PMID:22464251|PMID:23054243|PMID:23383274|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26689913|PMID:26787654|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28486781|PMID:28492532|PMID:28767289|PMID:28779002|PMID:28864920|PMID:30306255|PMID:32832836|PMID:32860008|PMID:33471991 12297562 XRCC2 X-ray repair cross complementing 2 gene DOID:0112272 spermatogenic failure 50 ISO RGD:1349181 D RGD:7240710 20210113 OMIM 12297562 XRCC2 X-ray repair cross complementing 2 gene DOID:0112272 spermatogenic failure 50 ISO RGD:1349181 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 50 PMID:30042186|PMID:30489636|PMID:33194656 12297562 XRCC2 X-ray repair cross complementing 2 gene DOID:12849 autistic disorder ISO RGD:1349181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12297562 XRCC2 X-ray repair cross complementing 2 gene DOID:1793 pancreatic cancer ISO RGD:1349181 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs3218536 (human) PMID:16540687|REF_RGD_ID:2317365 12297562 XRCC2 X-ray repair cross complementing 2 gene DOID:1793 pancreatic cancer ISO RGD:1349181 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R188H (human) PMID:17986315|REF_RGD_ID:2317507 12297562 XRCC2 X-ray repair cross complementing 2 gene DOID:219 colon cancer ISO RGD:1349181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:23054243|PMID:25637381|PMID:25741868|PMID:27233470|PMID:28492532|PMID:28767289 12297562 XRCC2 X-ray repair cross complementing 2 gene DOID:2843 long QT syndrome ISO RGD:1349181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12297562 XRCC2 X-ray repair cross complementing 2 gene DOID:3459 breast carcinoma ISO RGD:1349181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:25330149|PMID:25452441|PMID:26681312|PMID:26845104|PMID:28492532|PMID:30322717|PMID:31463769 12297562 XRCC2 X-ray repair cross complementing 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1349181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:32566746 12297562 XRCC2 X-ray repair cross complementing 2 gene DOID:630 genetic disease ISO RGD:1349181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12297562 XRCC2 X-ray repair cross complementing 2 gene DOID:9002620 SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION ISO RGD:1349181 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Short stature, microcephaly, and endocrine dysfunction PMID:11118202|PMID:22232082|PMID:26046366|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28486781|PMID:28492532|PMID:30306255|PMID:32832836 12297562 XRCC2 X-ray repair cross complementing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11118202|PMID:12455067|PMID:15855896|PMID:17576681|PMID:22232082|PMID:22464251|PMID:22481871|PMID:23054243|PMID:25330149|PMID:25452441|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28486781|PMID:28492532|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28864920|PMID:28912153|PMID:29255180|PMID:29739106|PMID:29915322|PMID:30306255|PMID:30322717|PMID:31159747|PMID:31463769|PMID:9536098 12297562 XRCC2 X-ray repair cross complementing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349181 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11118202|PMID:12455067|PMID:15855896|PMID:17576681|PMID:22232082|PMID:22464251|PMID:22481871|PMID:23054243|PMID:25330149|PMID:25452441|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28486781|PMID:28492532|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28864920|PMID:28912153|PMID:29255180|PMID:29739106|PMID:29915322|PMID:30306255|PMID:30322717|PMID:31463769|PMID:9536098 12297562 XRCC2 X-ray repair cross complementing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349181 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11118202|PMID:12455067|PMID:15855896|PMID:17557904|PMID:17576681|PMID:22232082|PMID:22464251|PMID:22481871|PMID:23054243|PMID:23383274|PMID:25330149|PMID:25452441|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28135048|PMID:28486781|PMID:28492532|PMID:28715532|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28864920|PMID:28912153|PMID:29255180|PMID:29641532|PMID:29739106|PMID:29915322|PMID:30042186|PMID:30306255|PMID:30322717|PMID:30489636|PMID:30613976|PMID:31159747|PMID:31463769|PMID:31779681|PMID:31911633|PMID:32235514|PMID:32658311|PMID:32832836|PMID:32860008|PMID:33194656|PMID:33471991|PMID:3471991|PMID:36113475|PMID:9536098 12297562 XRCC2 X-ray repair cross complementing 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1349181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12023982 12297562 XRCC2 X-ray repair cross complementing 2 gene DOID:9256 colorectal cancer ISO RGD:1349181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:28492532 12297562 XRCC2 X-ray repair cross complementing 2 gene DOID:9256 colorectal cancer ISO RGD:1349181 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:28492532|PMID:32235514 12297573 VPS37A VPS37A subunit of ESCRT-I gene DOID:0080743 transverse myelitis ISO RGD:1604528 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic transverse myelitis PMID:25741868|PMID:28492532|PMID:29473047 12297573 VPS37A VPS37A subunit of ESCRT-I gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1604528 D RGD:7240710 20180130 OMIM 12297573 VPS37A VPS37A subunit of ESCRT-I gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1604528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:16199547|PMID:17576681|PMID:22717650|PMID:25741868|PMID:28492532|PMID:29473047|PMID:9536098 12297573 VPS37A VPS37A subunit of ESCRT-I gene DOID:2476 hereditary spastic paraplegia ISO RGD:1604528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 12297573 VPS37A VPS37A subunit of ESCRT-I gene DOID:630 genetic disease ISO RGD:1604528 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12297593 WDR35 WD repeat domain 35 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:1315220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome PMID:22486404|PMID:24033266|PMID:25741868|PMID:25914204|PMID:28332779|PMID:28492532|PMID:29068549 12297593 WDR35 WD repeat domain 35 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1315220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:22486404|PMID:24033266|PMID:25741868|PMID:25914204|PMID:27158779|PMID:28332779|PMID:28400947|PMID:28492532|PMID:29068549 12297593 WDR35 WD repeat domain 35 gene DOID:0070299 multiple epiphyseal dysplasia 5 ISO RGD:1315220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY PMID:25741868|PMID:28492532 12297593 WDR35 WD repeat domain 35 gene DOID:0080804 cranioectodermal dysplasia 2 ISO RGD:1315220 D RGD:7240710 20180130 OMIM 12297593 WDR35 WD repeat domain 35 gene DOID:0080804 cranioectodermal dysplasia 2 ISO RGD:1315220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 PMID:16199547|PMID:17576681|PMID:20817137|PMID:21473986|PMID:22486404|PMID:22987818|PMID:24027799|PMID:24033266|PMID:24123776|PMID:25326635|PMID:25741868|PMID:25908617|PMID:25914204|PMID:26691894|PMID:27158779|PMID:28332779|PMID:28400947|PMID:28492532|PMID:28870638|PMID:29068549|PMID:33369054|PMID:33606107|PMID:9536098 12297593 WDR35 WD repeat domain 35 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1315220 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:22486404|PMID:24033266|PMID:25741868|PMID:25914204|PMID:28332779|PMID:28492532|PMID:29068549 12297593 WDR35 WD repeat domain 35 gene DOID:0110090 short-rib thoracic dysplasia 7 with or without polydactyly ISO RGD:1315220 D RGD:7240710 20180130 OMIM 12297593 WDR35 WD repeat domain 35 gene DOID:0110090 short-rib thoracic dysplasia 7 with or without polydactyly ISO RGD:1315220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly PMID:17935248|PMID:21473986|PMID:22486404|PMID:24033266|PMID:25741868|PMID:25908617|PMID:25914204|PMID:27158779|PMID:28332779|PMID:28400947|PMID:28492532|PMID:29068549 12297593 WDR35 WD repeat domain 35 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1315220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:25741868|PMID:28492532|PMID:28870638|PMID:29068549 12297593 WDR35 WD repeat domain 35 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1315220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:25741868|PMID:28492532 12297593 WDR35 WD repeat domain 35 gene DOID:12721 multiple epiphyseal dysplasia ISO RGD:1315220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant PMID:25741868|PMID:28492532 12297593 WDR35 WD repeat domain 35 gene DOID:2340 craniosynostosis ISO RGD:1315220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20817137 12297593 WDR35 WD repeat domain 35 gene DOID:5082 liver cirrhosis ISO RGD:1564116 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:18472094|REF_RGD_ID:11553927 12297593 WDR35 WD repeat domain 35 gene DOID:630 genetic disease ISO RGD:1315220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24123776|PMID:25326635|PMID:25741868|PMID:28492532 12297593 WDR35 WD repeat domain 35 gene DOID:65 connective tissue disease ISO RGD:1315220 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532|PMID:29068549 12297593 WDR35 WD repeat domain 35 gene DOID:9003056 Short-Rib Thoracic Dysplasia 20 with Polydactyly ISO RGD:1315220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7/20 with polydactyly, digenic PMID:25741868|PMID:27158779|PMID:28400947|PMID:29068549 12297593 WDR35 WD repeat domain 35 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1564116 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:20224876|REF_RGD_ID:11553923 12297626 CIAO2A cytosolic iron-sulfur assembly component 2A gene DOID:0110935 nemaline myopathy 6 ISO RGD:1602086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12297626 CIAO2A cytosolic iron-sulfur assembly component 2A gene DOID:2717 Bloom syndrome ISO RGD:1602086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12297626 CIAO2A cytosolic iron-sulfur assembly component 2A gene DOID:630 genetic disease ISO RGD:1602086 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12297626 CIAO2A cytosolic iron-sulfur assembly component 2A gene DOID:9256 colorectal cancer ISO RGD:1602086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0050575 D-2-hydroxyglutaric aciduria treatment ISO RGD:1557355 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R140Q(mouse) PMID:27469509|REF_RGD_ID:13506812 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413734|PMID:24413737 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1313391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:20171147|PMID:20847235|PMID:20946881|PMID:21250968|PMID:21596855|PMID:21889589|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:20171147|PMID:20847235|PMID:20946881|PMID:21250968|PMID:21596855|PMID:21647154|PMID:21889589|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0080005 bone remodeling disease ISO RGD:1557355 D RGD:9068941 20220825 MouseDO 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0080546 non-alcoholic fatty liver severity ISO RGD:1557355 D RGD:9068941 20200609 RGD PMID:29861476|REF_RGD_ID:14985251 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0080546 non-alcoholic fatty liver susceptibility ISO RGD:1557355 D RGD:9068941 20200609 RGD PMID:31064654|REF_RGD_ID:14985252 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0080547 non-alcoholic steatohepatitis ameliorates ISO RGD:1557355 D RGD:9068941 20210730 RGD PMID:28415887|REF_RGD_ID:14985253 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1313391 D RGD:7240710 20190918 OMIM 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:16199547|PMID:17576681|PMID:18414213|PMID:20171147|PMID:20847235|PMID:20946881|PMID:21647154|PMID:21889589|PMID:22160010|PMID:22397365|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:30975432|PMID:34641967|PMID:9536098 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:10534 stomach cancer ISO RGD:1313391 D RGD:9068941 20210723 RGD protein:decreased expression:stomach (human) PMID:27466503|REF_RGD_ID:149735569 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:10534 stomach cancer disease_progression ISO RGD:1313391 D RGD:9068941 20210730 RGD protein:decreased expression:stomach (human) PMID:25098926|REF_RGD_ID:149735841 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:1074 kidney failure ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:11111 hydronephrosis ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:11476 osteoporosis ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:1324 lung cancer ISO RGD:1313391 D RGD:9068941 20210723 RGD PMID:30128035|REF_RGD_ID:149735564 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:1824 status epilepticus ISO RGD:1597139 D RGD:9068941 20200609 RGD protein:increased acetylation:hippocampus PMID:29778462|REF_RGD_ID:14985255 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:255 hemangioma ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22057234 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:2602 chondroma ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22057234|PMID:25895133 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:2717 Bloom syndrome ISO RGD:1313391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3070 high grade glioma ISO RGD:1313391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:20946881|PMID:21250968|PMID:21596855|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23949315|PMID:24606448|PMID:25157968|PMID:26619011 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3181 oligodendroglioma ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20160062 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3307 teratoma ISO RGD:1313391 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:331 central nervous system disease ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1313391 D RGD:9068941 20210723 RGD human cells in mouse model PMID:32367071|REF_RGD_ID:149735568 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1313391 D RGD:9068941 20210723 RGD protein:increased expression:lung (human) PMID:30128035|REF_RGD_ID:149735564 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3907 lung squamous cell carcinoma severity ISO RGD:1313391 D RGD:9068941 20210723 RGD protein:increased expression:blood serum (human) PMID:29465809|REF_RGD_ID:149735567 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1313391 D RGD:9068941 20210723 RGD DNA:SNP:CD: (rs11540478) C>T (human) PMID:27649069|REF_RGD_ID:149735566 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1313391 D RGD:9068941 20210820 RGD DNA:SNP: (rs11540478) (human) PMID:25576295|REF_RGD_ID:150340558 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1313391 D RGD:9068941 20210723 RGD protein:increased expression:lung (human) PMID:30128035|REF_RGD_ID:149735564 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1313391 D RGD:9068941 20210723 RGD protein:increased expression:blood serum (human) PMID:29465809|REF_RGD_ID:149735567 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:4624 Ollier disease ISO RGD:1313391 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Enchondromatosis PMID:18414213|PMID:25741868|PMID:28492532 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:1557355 D RGD:9068941 20210730 RGD mRNA:decreased expression:liver (mouse) PMID:32463951|REF_RGD_ID:149735894 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1313391 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:22824796|REF_RGD_ID:14985256 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:4947 cholangiocarcinoma ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24185509 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:5016 hepatocellular clear cell carcinoma disease_progression ISO RGD:1313391 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs11632348(human) PMID:25355558|REF_RGD_ID:14974228 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:20171147|PMID:20847235|PMID:20946881|PMID:21647154|PMID:21889589|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:630 genetic disease ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20171147|PMID:20847235|PMID:20946881|PMID:21647154|PMID:21889589|PMID:22160010|PMID:22397365|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:6536 plasma cell neoplasm ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:20171147|PMID:20847235|PMID:20946881|PMID:21647154|PMID:21889589|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1313391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:20946881|PMID:21250968|PMID:21596855|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23949315|PMID:24606448|PMID:25157968|PMID:26619011 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1313391 D RGD:9068941 20200609 RGD PMID:24716838|REF_RGD_ID:14985249 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:8398 osteoarthritis ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9002159 Liver Reperfusion Injury severity ISO RGD:1557355 D RGD:9068941 20200609 RGD PMID:28938192|REF_RGD_ID:14985248 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9003571 Paraproteinemias ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:20171147|PMID:20847235|PMID:20946881|PMID:21647154|PMID:21889589|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9003936 Cardiomegaly ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9004253 Immunoblastic Lymphadenopathy ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413737 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9006205 Animal Disease Models ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9006257 Growth Disorders ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:1557355 D RGD:9068941 20200609 RGD PMID:31064654|REF_RGD_ID:14985252 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:1557355 D RGD:9068941 20200609 RGD PMID:31121248|REF_RGD_ID:14985250 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9007502 Brain Neoplasms ISO RGD:1313391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain Neoplasms PMID:20946881|PMID:21250968|PMID:21596855|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23949315|PMID:24606448|PMID:25157968|PMID:26619011 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:20171147|PMID:20847235|PMID:20946881|PMID:21250968|PMID:21596855|PMID:21647154|PMID:21889589|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1313391 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:20171147|PMID:20847235|PMID:20946881|PMID:21250968|PMID:21596855|PMID:21889589|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26619011|PMID:28492532 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:20171147|PMID:20847235|PMID:20946881|PMID:21250968|PMID:21596855|PMID:21647154|PMID:21889589|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1313391 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R140 (human) PMID:25324972|REF_RGD_ID:11522721 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1313391 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R172(human) PMID:20368543|REF_RGD_ID:11522718 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9256 colorectal cancer ISO RGD:1313391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9408 acute myocardial infarction ISO RGD:1313391 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Acute myocardial infarction PMID:20946881|PMID:21250968|PMID:21596855|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23949315|PMID:24606448|PMID:25157968|PMID:26619011 12297635 IDH2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9538 multiple myeloma ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:20171147|PMID:20847235|PMID:20946881|PMID:21647154|PMID:21889589|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 12297649 UPRT uracil phosphoribosyltransferase homolog gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12297649 UPRT uracil phosphoribosyltransferase homolog gene DOID:12849 autistic disorder ISO RGD:1605870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12297649 UPRT uracil phosphoribosyltransferase homolog gene DOID:630 genetic disease ISO RGD:1605870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12297649 UPRT uracil phosphoribosyltransferase homolog gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1564806 D RGD:9068941 20200609 RGD protein:decreased activity:mammary gland (rat) PMID:1476792|REF_RGD_ID:5132591 12297660 TPH2 tryptophan hydroxylase 2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736716 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Tryptophan 5-monooxygenase deficiency PMID:15167691|PMID:16378243|PMID:17905754|PMID:18181017|PMID:18339632|PMID:18347598|PMID:18444257|PMID:19319927|PMID:19588223|PMID:22915309|PMID:25741868|PMID:28492532 12297660 TPH2 tryptophan hydroxylase 2 gene DOID:12849 autistic disorder ISO RGD:736716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15768392 12297660 TPH2 tryptophan hydroxylase 2 gene DOID:12849 autistic disorder ISO RGD:736716 D RGD:9068941 20200609 RGD DNA:SNPs:introns PMID:15768392|REF_RGD_ID:5686360 12297660 TPH2 tryptophan hydroxylase 2 gene DOID:12849 autistic disorder no_association ISO RGD:736716 D RGD:9068941 20200609 RGD DNA:SNPs: :rs4341581, rs11179000 (human) PMID:16958027|REF_RGD_ID:5686361 12297660 TPH2 tryptophan hydroxylase 2 gene DOID:1470 major depressive disorder ISO RGD:736716 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Major depressive disorder PMID:17905754|PMID:18347598|PMID:19319927|PMID:25741868 12297660 TPH2 tryptophan hydroxylase 2 gene DOID:1470 major depressive disorder susceptibility ISO RGD:736716 D RGD:7240710 20230505 OMIM 12297660 TPH2 tryptophan hydroxylase 2 gene DOID:1595 melancholic depression ISO RGD:1332580 D RGD:9068941 20220825 MouseDO OMIM:608516 12297660 TPH2 tryptophan hydroxylase 2 gene DOID:1596 depressive disorder ISO RGD:736716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17950541 12297660 TPH2 tryptophan hydroxylase 2 gene DOID:3312 bipolar disorder ISO RGD:736716 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bipolar affective disorder, susceptibility to PMID:17905754|PMID:18347598|PMID:19319927|PMID:25741868 12297660 TPH2 tryptophan hydroxylase 2 gene DOID:594 panic disorder susceptibility ISO RGD:736716 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs1386494) (human) PMID:17123728|REF_RGD_ID:5686356 12297660 TPH2 tryptophan hydroxylase 2 gene DOID:630 genetic disease ISO RGD:736716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12297660 TPH2 tryptophan hydroxylase 2 gene DOID:6432 pulmonary hypertension severity ISO RGD:1332580 D RGD:9068941 20200609 RGD DNA:SNP: :1473C>G (mouse) PMID:17675372|REF_RGD_ID:5686352 12297660 TPH2 tryptophan hydroxylase 2 gene DOID:9000972 Fever ISO RGD:736716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20722968 12297660 TPH2 tryptophan hydroxylase 2 gene DOID:9002656 Attention Deficit-Hyperactivity Disorder 7 ISO RGD:736716 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Attention deficit-hyperactivity disorder, susceptibility to, 7 PMID:19319927|PMID:25741868 12297660 TPH2 tryptophan hydroxylase 2 gene DOID:9002656 Attention Deficit-Hyperactivity Disorder 7 susceptibility ISO RGD:736716 D RGD:7240710 20220720 OMIM 12297673 WNT7B Wnt family member 7B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1322906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12297673 WNT7B Wnt family member 7B gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1322906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:25741868 12297673 WNT7B Wnt family member 7B gene DOID:0111807 syndromic microphthalmia 9 ISO RGD:1322906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Matthew-Wood syndrome PMID:25741868 12297673 WNT7B Wnt family member 7B gene DOID:1059 intellectual disability ISO RGD:1322906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12297673 WNT7B Wnt family member 7B gene DOID:11054 urinary bladder cancer ISO RGD:1322906 D RGD:9068941 20200609 RGD mRNA:increased expression:superficial tumors vs normal bladder tissue (p=0.002) or invasive tumors (p=0.003) PMID:9461004|REF_RGD_ID:2299932 12297673 WNT7B Wnt family member 7B gene DOID:1612 breast cancer ISO RGD:1322906 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:decreased vs normal breast epithelium PMID:15492823|REF_RGD_ID:2298699 12297673 WNT7B Wnt family member 7B gene DOID:1618 breast fibroadenoma ISO RGD:1322906 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:increased in 10% of malignant neoplasms vs normal tissue and fibroadenomas PMID:8168088|REF_RGD_ID:2291878 12297673 WNT7B Wnt family member 7B gene DOID:630 genetic disease ISO RGD:1322906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12297673 WNT7B Wnt family member 7B gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1322907 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:8065359|REF_RGD_ID:2298863 12297673 WNT7B Wnt family member 7B gene DOID:9005233 Experimental Mammary Neoplasms no_association ISO RGD:1322907 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:9419423|REF_RGD_ID:2298848 12297697 FSTL5 follistatin like 5 gene DOID:3312 bipolar disorder ISO RGD:1315715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12297697 FSTL5 follistatin like 5 gene DOID:630 genetic disease ISO RGD:1315715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12297718 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:0050590 severe congenital neutropenia ISO RGD:1603702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia PMID:24753205 12297718 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1603702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency 12297718 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:0080625 severe congenital neutropenia 1 ISO RGD:1603702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant PMID:24753205 12297718 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:0110942 autosomal recessive osteopetrosis 1 ISO RGD:1603702 D RGD:7240710 20180130 OMIM 12297718 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:0110942 autosomal recessive osteopetrosis 1 ISO RGD:1603702 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 | ClinVar Annotator: match by term: Marble bones autosomal recessive PMID:10888887|PMID:10942435|PMID:11532986|PMID:12507890|PMID:12552563|PMID:12566520|PMID:14675409|PMID:15300850|PMID:16199547|PMID:16840787|PMID:17576681|PMID:18715141|PMID:19448635|PMID:19507210|PMID:20424301|PMID:21042819|PMID:22231430|PMID:23412864|PMID:23721911|PMID:24033266|PMID:24101165|PMID:24108692|PMID:24535484|PMID:24753205|PMID:24989235|PMID:25018813|PMID:25326635|PMID:25525159|PMID:25741868|PMID:25829125|PMID:26264438|PMID:26777052|PMID:27229898|PMID:28492532|PMID:28604959|PMID:29363653|PMID:29431110|PMID:30084437|PMID:30431110|PMID:30537558|PMID:30539151|PMID:30898715|PMID:31319225|PMID:31501239|PMID:31567691|PMID:31589614|PMID:31949009|PMID:31949762|PMID:32411386|PMID:34753502|PMID:9506970|PMID:9536098 12297718 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1603702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 12297718 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:1059 intellectual disability ISO RGD:1603702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12297718 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:11836 clubfoot ISO RGD:1552412 D RGD:9068941 20220825 MouseDO OMIM:119800 12297718 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:13533 osteopetrosis ISO RGD:1603702 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteopetrosis PMID:10888887|PMID:10942435|PMID:11532986|PMID:12552563|PMID:15300850|PMID:16199547|PMID:16840787|PMID:19448635|PMID:19507210|PMID:20424301|PMID:21042819|PMID:23721911|PMID:24033266|PMID:24535484|PMID:24753205|PMID:25326635|PMID:25525159|PMID:25741868|PMID:28492532|PMID:29363653|PMID:29431110|PMID:30084437|PMID:30431110|PMID:30539151|PMID:30898715|PMID:31501239|PMID:31567691|PMID:31589614|PMID:31949009|PMID:31949762|PMID:32411386|PMID:34753502 12297718 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:3652 Leigh disease ISO RGD:1603702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome 12297718 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:4254 osteosclerosis ISO RGD:1603702 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:22231430|PMID:24033266|PMID:25741868|PMID:26264438|PMID:28492532 12297718 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:630 genetic disease ISO RGD:1603702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10942435|PMID:15300850|PMID:17576681|PMID:19507210|PMID:24989235|PMID:25741868|PMID:28492532|PMID:9536098 12297718 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1603702 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12297718 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1603702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12297746 HS6ST3 heparan sulfate 6-O-sulfotransferase 3 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1314189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 12297746 HS6ST3 heparan sulfate 6-O-sulfotransferase 3 gene DOID:630 genetic disease ISO RGD:1314189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12297746 HS6ST3 heparan sulfate 6-O-sulfotransferase 3 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1314189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12297766 UBTD1 ubiquitin domain containing 1 gene DOID:630 genetic disease ISO RGD:1317795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12297772 CFAP43 cilia and flagella associated protein 43 gene DOID:0070170 spermatogenic failure 19 ISO RGD:1350133 D RGD:7240710 20190315 OMIM 12297772 CFAP43 cilia and flagella associated protein 43 gene DOID:0070170 spermatogenic failure 19 ISO RGD:1350133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 19 PMID:25741868|PMID:28552195|PMID:29277146|PMID:29449551 12297772 CFAP43 cilia and flagella associated protein 43 gene DOID:10283 prostate cancer ISO RGD:1350133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12297772 CFAP43 cilia and flagella associated protein 43 gene DOID:1572 normal pressure hydrocephalus ISO RGD:1350133 D RGD:7240710 20200226 OMIM 12297772 CFAP43 cilia and flagella associated protein 43 gene DOID:1572 normal pressure hydrocephalus ISO RGD:1350133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Normal pressure hydrocephalus PMID:25741868|PMID:29449551|PMID:31004071 12297772 CFAP43 cilia and flagella associated protein 43 gene DOID:630 genetic disease ISO RGD:1350133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12297816 ZBTB40 zinc finger and BTB domain containing 40 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1604838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12297816 ZBTB40 zinc finger and BTB domain containing 40 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1604838 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12297816 ZBTB40 zinc finger and BTB domain containing 40 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1604838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12297816 ZBTB40 zinc finger and BTB domain containing 40 gene DOID:1059 intellectual disability ISO RGD:1604838 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12297816 ZBTB40 zinc finger and BTB domain containing 40 gene DOID:630 genetic disease ISO RGD:1604838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12297816 ZBTB40 zinc finger and BTB domain containing 40 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1604838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12297859 SPRED1 sprouty related EVH1 domain containing 1 gene DOID:0050469 Costello syndrome ISO RGD:1318683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Costello syndrome 12297859 SPRED1 sprouty related EVH1 domain containing 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1318683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17704776 12297859 SPRED1 sprouty related EVH1 domain containing 1 gene DOID:0111683 neurofibromatosis-Noonan syndrome ISO RGD:1318683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome PMID:28492532 12297859 SPRED1 sprouty related EVH1 domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1318683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12297859 SPRED1 sprouty related EVH1 domain containing 1 gene DOID:3490 Noonan syndrome ISO RGD:1318683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome PMID:28492532 12297859 SPRED1 sprouty related EVH1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1318683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19920235|PMID:21089071|PMID:21548021|PMID:22751498|PMID:2275304|PMID:22753041|PMID:24033266|PMID:24334617|PMID:25741868|PMID:26214305|PMID:26635368|PMID:27763634|PMID:28492532|PMID:31401120|PMID:31443423|PMID:9536098 12297859 SPRED1 sprouty related EVH1 domain containing 1 gene DOID:8712 neurofibromatosis ISO RGD:1318683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis PMID:17704776|PMID:24469042|PMID:25741868|PMID:28492532 12297859 SPRED1 sprouty related EVH1 domain containing 1 gene DOID:9002453 Cafe-au-Lait Spots ISO RGD:1318683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17704776 12297859 SPRED1 sprouty related EVH1 domain containing 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1318683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17704776 12297859 SPRED1 sprouty related EVH1 domain containing 1 gene DOID:9007799 Legius Syndrome ISO RGD:1318683 D RGD:7240710 20180130 OMIM 12297859 SPRED1 sprouty related EVH1 domain containing 1 gene DOID:9007799 Legius Syndrome ISO RGD:1318683 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Legius syndrome | ClinVar Annotator: match by term: Neurofibromatosis type 1 like syndrome PMID:15683364|PMID:16199547|PMID:17576681|PMID:17704776|PMID:19366998|PMID:19443465|PMID:19920235|PMID:20179001|PMID:20571013|PMID:20945555|PMID:21089071|PMID:21520333|PMID:21548021|PMID:21649642|PMID:22751498|PMID:2275304|PMID:22753041|PMID:24033266|PMID:24334617|PMID:24469042|PMID:25074460|PMID:25741868|PMID:25883013|PMID:25981987|PMID:26084686|PMID:26214305|PMID:26635368|PMID:27081556|PMID:27763634|PMID:28150585|PMID:28492532|PMID:28747691|PMID:29758562|PMID:31370276|PMID:31401120|PMID:31443423|PMID:31573083|PMID:31629629|PMID:32107864|PMID:32396270|PMID:32575496|PMID:32806529|PMID:9536098 12297859 SPRED1 sprouty related EVH1 domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1318683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12297876 BDH1 3-hydroxybutyrate dehydrogenase 1 gene DOID:0080600 COVID-19 severity ISO RGD:737289 D RGD:9068941 20200625 RGD associated with cardiovascular system disease;protein:increased expression:blood (human) PMID:32456948|REF_RGD_ID:30309957 12297876 BDH1 3-hydroxybutyrate dehydrogenase 1 gene DOID:12849 autistic disorder ISO RGD:737289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12297876 BDH1 3-hydroxybutyrate dehydrogenase 1 gene DOID:5419 schizophrenia ISO RGD:737289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12297876 BDH1 3-hydroxybutyrate dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:737289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12297876 BDH1 3-hydroxybutyrate dehydrogenase 1 gene DOID:7998 hyperthyroidism ISO RGD:620131 D RGD:9068941 20200609 RGD protein:decreased activity:liver, mitochondrion (rat) PMID:3422549|REF_RGD_ID:4105460 12297876 BDH1 3-hydroxybutyrate dehydrogenase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 12297876 BDH1 3-hydroxybutyrate dehydrogenase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620131 D RGD:9068941 20200609 RGD protein:decreased activity:heart, mitochondrion (rat) PMID:3548709|REF_RGD_ID:2326100 12297876 BDH1 3-hydroxybutyrate dehydrogenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12297884 NEURL1B neuralized E3 ubiquitin protein ligase 1B gene DOID:0110112 atrial heart septal defect 7 ISO RGD:2303667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 12297884 NEURL1B neuralized E3 ubiquitin protein ligase 1B gene DOID:10908 hydrocephalus ISO RGD:2303667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 12297884 NEURL1B neuralized E3 ubiquitin protein ligase 1B gene DOID:630 genetic disease ISO RGD:2303667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12297884 NEURL1B neuralized E3 ubiquitin protein ligase 1B gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:2303667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 12297892 TTC1 tetratricopeptide repeat domain 1 gene DOID:630 genetic disease ISO RGD:1345432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12297907 TNIP1 TNFAIP3 interacting protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319697 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12297907 TNIP1 TNFAIP3 interacting protein 1 gene DOID:12894 Sjogren's syndrome ISO RGD:1319697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 12297907 TNIP1 TNFAIP3 interacting protein 1 gene DOID:2841 asthma ISO RGD:1319697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24453940 12297907 TNIP1 TNFAIP3 interacting protein 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1319697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12297907 TNIP1 TNFAIP3 interacting protein 1 gene DOID:418 systemic scleroderma ISO RGD:1319697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21750679 12297907 TNIP1 TNFAIP3 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1319697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12297907 TNIP1 TNFAIP3 interacting protein 1 gene DOID:8893 psoriasis ISO RGD:1319697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19169254|PMID:20953190 12297907 TNIP1 TNFAIP3 interacting protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319697 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12297907 TNIP1 TNFAIP3 interacting protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1319697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 12297907 TNIP1 TNFAIP3 interacting protein 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1319697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838193|PMID:19838195 12297933 C5H11orf52 chromosome 5 C11orf52 homolog gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1604761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 12297933 C5H11orf52 chromosome 5 C11orf52 homolog gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:1604761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:25966638|PMID:28492532 12297933 C5H11orf52 chromosome 5 C11orf52 homolog gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1604761 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 12297933 C5H11orf52 chromosome 5 C11orf52 homolog gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:1604761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 12297933 C5H11orf52 chromosome 5 C11orf52 homolog gene DOID:1059 intellectual disability ISO RGD:1604761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12297933 C5H11orf52 chromosome 5 C11orf52 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1604761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12297933 C5H11orf52 chromosome 5 C11orf52 homolog gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12297933 C5H11orf52 chromosome 5 C11orf52 homolog gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1604761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 12297941 AGFG2 ArfGAP with FG repeats 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12297941 AGFG2 ArfGAP with FG repeats 2 gene DOID:630 genetic disease ISO RGD:1315293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12297964 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:1351643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA PMID:25741868|PMID:32585897 12297964 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:0060232 branchiootic syndrome ISO RGD:1351643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inner ear malformation PMID:29955957 12297964 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:0060250 idiopathic scoliosis ISO RGD:1351643 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 PMID:25741868 12297964 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1351643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 12297964 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:0080205 CAKUT ISO RGD:1351643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:29100090|PMID:30143558 12297964 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome ISO RGD:1351643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome PMID:25741868|PMID:28492532|PMID:32378186 12297964 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:0112178 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 ISO RGD:1351643 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rokitansky sequence PMID:25741868 12297964 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 ISO RGD:1351643 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Klippel-feil deformity, conductive deafness, and absent vagina PMID:25741868 12297964 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:1059 intellectual disability ISO RGD:1351643 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12297964 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:14766 renal agenesis ISO RGD:1351643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal agenesis PMID:25741868|PMID:35005812 12297964 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:9003763 Renal Hypodysplasia/Aplasia 1 ISO RGD:1351643 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Renal agenesis and hypodysplasia PMID:28492532|PMID:29100090 12297964 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:9007661 Dwarfism ISO RGD:1351643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12297964 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:9008687 Autosomal Dominant Nonsyndromic Deafness 80 ISO RGD:1351643 D RGD:7240710 20210505 OMIM 12297964 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:9008687 Autosomal Dominant Nonsyndromic Deafness 80 ISO RGD:1351643 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 80 PMID:25741868|PMID:28492532|PMID:29955957|PMID:32585897 12297964 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:9009100 Renal Hypodysplasia/Aplasia 3 ISO RGD:1351643 D RGD:7240710 20190315 OMIM 12297964 GREB1L GREB1 like retinoic acid receptor coactivator gene DOID:9009100 Renal Hypodysplasia/Aplasia 3 ISO RGD:1351643 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 3 PMID:25741868|PMID:28492532|PMID:28739660|PMID:29100090|PMID:29100091|PMID:30143558|PMID:31424080|PMID:32378186|PMID:32585897|PMID:32598191|PMID:33532864|PMID:33548512 12298018 ZNF197 zinc finger protein 197 gene DOID:630 genetic disease ISO RGD:1353796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298027 CELF2 CUGBP Elav-like family member 2 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:68488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 12298027 CELF2 CUGBP Elav-like family member 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:68488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12298027 CELF2 CUGBP Elav-like family member 2 gene DOID:5419 schizophrenia ISO RGD:68488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12298027 CELF2 CUGBP Elav-like family member 2 gene DOID:630 genetic disease ISO RGD:68488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298027 CELF2 CUGBP Elav-like family member 2 gene DOID:9000553 Developmental and Epileptic Encephalopathy 97 ISO RGD:68488 D RGD:7240710 20211020 OMIM 12298027 CELF2 CUGBP Elav-like family member 2 gene DOID:9000553 Developmental and Epileptic Encephalopathy 97 ISO RGD:68488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 97 PMID:25741868|PMID:33131106 12298027 CELF2 CUGBP Elav-like family member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12298027 CELF2 CUGBP Elav-like family member 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28319090 12298080 FGF17 fibroblast growth factor 17 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:733951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12298080 FGF17 fibroblast growth factor 17 gene DOID:0090082 hypogonadotropic hypogonadism 20 with or without anosmia ISO RGD:733951 D RGD:7240710 20180130 OMIM 12298080 FGF17 fibroblast growth factor 17 gene DOID:0090082 hypogonadotropic hypogonadism 20 with or without anosmia ISO RGD:733951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 20 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 20 without anosmia PMID:21700882|PMID:23643382|PMID:6881209 12298080 FGF17 fibroblast growth factor 17 gene DOID:630 genetic disease ISO RGD:733951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298080 FGF17 fibroblast growth factor 17 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:733951 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12298094 OSTN osteocrin gene DOID:5419 schizophrenia ISO RGD:1342782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12298094 OSTN osteocrin gene DOID:630 genetic disease ISO RGD:1342782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298103 CMTM1 CKLF like MARVEL transmembrane domain containing 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1316732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12298103 CMTM1 CKLF like MARVEL transmembrane domain containing 1 gene DOID:0110255 cataract 5 multiple types ISO RGD:1316732 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 12298103 CMTM1 CKLF like MARVEL transmembrane domain containing 1 gene DOID:630 genetic disease ISO RGD:1316732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298111 BICRA BRD4 interacting chromatin remodeling complex associated protein gene DOID:0080598 Kleefstra syndrome 2 ISO RGD:1314970 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 2 PMID:25741868 12298111 BICRA BRD4 interacting chromatin remodeling complex associated protein gene DOID:0112370 Coffin-Siris syndrome 12 ISO RGD:1314970 D RGD:7240710 20210616 OMIM 12298111 BICRA BRD4 interacting chromatin remodeling complex associated protein gene DOID:0112370 Coffin-Siris syndrome 12 ISO RGD:1314970 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 12 PMID:25741868|PMID:25741870|PMID:28492532|PMID:33232675 12298111 BICRA BRD4 interacting chromatin remodeling complex associated protein gene DOID:1059 intellectual disability ISO RGD:1314970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:33232675 12298111 BICRA BRD4 interacting chromatin remodeling complex associated protein gene DOID:630 genetic disease ISO RGD:1314970 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298111 BICRA BRD4 interacting chromatin remodeling complex associated protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314970 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33232675 12298111 BICRA BRD4 interacting chromatin remodeling complex associated protein gene DOID:9008582 Developmental Disease ISO RGD:1314970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12298131 CRYBG2 crystallin beta-gamma domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1318501 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12298131 CRYBG2 crystallin beta-gamma domain containing 2 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1318501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 12298131 CRYBG2 crystallin beta-gamma domain containing 2 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1318501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12298131 CRYBG2 crystallin beta-gamma domain containing 2 gene DOID:630 genetic disease ISO RGD:1318501 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298157 TMEFF1 transmembrane protein with EGF like and two follistatin like domains 1 gene DOID:1059 intellectual disability ISO RGD:5013873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12298157 TMEFF1 transmembrane protein with EGF like and two follistatin like domains 1 gene DOID:630 genetic disease ISO RGD:5013873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298185 SELENOH selenoprotein H gene DOID:0050860 colorectal adenoma ISO RGD:1354417 D RGD:9068941 20220407 RGD mRNA:increased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 12298185 SELENOH selenoprotein H gene DOID:0080199 colorectal carcinoma ISO RGD:1354417 D RGD:9068941 20220407 RGD mRNA:increased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 12298185 SELENOH selenoprotein H gene DOID:1059 intellectual disability ISO RGD:1354417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12298194 ZNF696 zinc finger protein 696 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1605338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12298194 ZNF696 zinc finger protein 696 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1605338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12298194 ZNF696 zinc finger protein 696 gene DOID:4621 holoprosencephaly ISO RGD:1605338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12298194 ZNF696 zinc finger protein 696 gene DOID:630 genetic disease ISO RGD:1605338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298216 EIF4G2 eukaryotic translation initiation factor 4 gamma 2 gene DOID:10763 hypertension ISO RGD:1305294 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:12708758|REF_RGD_ID:10755511 12298216 EIF4G2 eukaryotic translation initiation factor 4 gamma 2 gene DOID:1591 renovascular hypertension ISO RGD:1305294 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:12708758|REF_RGD_ID:10755511 12298216 EIF4G2 eukaryotic translation initiation factor 4 gamma 2 gene DOID:630 genetic disease ISO RGD:1313238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298216 EIF4G2 eukaryotic translation initiation factor 4 gamma 2 gene DOID:916 liver benign neoplasm ISO RGD:1313239 D RGD:9068941 20200609 RGD PMID:9633945|REF_RGD_ID:10755510 12298240 C8A complement C8 alpha chain gene DOID:0060301 type I complement component 8 deficiency ISO RGD:1318077 D RGD:7240710 20180130 OMIM 12298240 C8A complement C8 alpha chain gene DOID:0060301 type I complement component 8 deficiency ISO RGD:1318077 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: COMPLEMENT COMPONENT 8, ALPHA SUBUNIT, A/B POLYMORPHISM | ClinVar Annotator: match by term: Type I complement component 8 deficiency PMID:24033266|PMID:25741868|PMID:28492532|PMID:7649542|PMID:975502|PMID:9759902 12298240 C8A complement C8 alpha chain gene DOID:5844 myocardial infarction ISO RGD:1308355 D RGD:9068941 20200609 RGD PMID:7515561|REF_RGD_ID:1600501 12298240 C8A complement C8 alpha chain gene DOID:612 primary immunodeficiency disease ISO RGD:1318077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9759902 12298240 C8A complement C8 alpha chain gene DOID:630 genetic disease ISO RGD:1318077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12298240 C8A complement C8 alpha chain gene DOID:9008538 Neisseriaceae Infections ISO RGD:1318077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9759902 12298240 C8A complement C8 alpha chain gene DOID:9471 meningitis ISO RGD:1318077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9759902 12298256 MIR628 microRNA mir-628 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1602925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12298314 ADM adrenomedullin gene DOID:0080600 COVID-19 ISO RGD:730917 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12298314 ADM adrenomedullin gene DOID:10534 stomach cancer treatment ISO RGD:730917 D RGD:9068941 20220901 RGD human cells in mouse model PMID:16052530|REF_RGD_ID:153344579 12298314 ADM adrenomedullin gene DOID:10762 portal hypertension ISO RGD:730918 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:15086360|REF_RGD_ID:1625304 12298314 ADM adrenomedullin gene DOID:10763 hypertension ISO RGD:2047 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium, aorta PMID:16450076|REF_RGD_ID:1625300 12298314 ADM adrenomedullin gene DOID:10763 hypertension ISO RGD:730917 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16625237|REF_RGD_ID:1625298 12298314 ADM adrenomedullin gene DOID:10808 gastric ulcer ISO RGD:730917 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9845272 12298314 ADM adrenomedullin gene DOID:10824 malignant hypertension ISO RGD:730917 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15284680|REF_RGD_ID:1625303 12298314 ADM adrenomedullin gene DOID:11612 polycystic ovary syndrome ISO RGD:730917 D RGD:9068941 20210709 CTD CTD Direct Evidence: therapeutic PMID:33491863 12298314 ADM adrenomedullin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2047 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:cardiomyocyte PMID:17355819|REF_RGD_ID:1625294 12298314 ADM adrenomedullin gene DOID:12849 autistic disorder ISO RGD:730917 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12579522 12298314 ADM adrenomedullin gene DOID:13603 obstructive jaundice ISO RGD:2047 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:20132852|REF_RGD_ID:7364952 12298314 ADM adrenomedullin gene DOID:14115 toxic shock syndrome ISO RGD:2047 D RGD:9068941 20200609 RGD PMID:17318497|PMID:17766482|REF_RGD_ID:1625310|REF_RGD_ID:1642599 12298314 ADM adrenomedullin gene DOID:1591 renovascular hypertension ISO RGD:730917 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15284680|REF_RGD_ID:1625303 12298314 ADM adrenomedullin gene DOID:1612 breast cancer ISO RGD:730917 D RGD:9068941 20200609 RGD PMID:16841081|REF_RGD_ID:2325318 12298314 ADM adrenomedullin gene DOID:1793 pancreatic cancer ISO RGD:730917 D RGD:9068941 20200609 RGD PMID:16841081|REF_RGD_ID:2325318 12298314 ADM adrenomedullin gene DOID:1793 pancreatic cancer disease_progression ISO RGD:730917 D RGD:9068941 20200609 RGD PMID:17363587|REF_RGD_ID:2325317 12298314 ADM adrenomedullin gene DOID:2018 hyperinsulinism ISO RGD:730917 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased expression:plasma PMID:15789277|REF_RGD_ID:1625301 12298314 ADM adrenomedullin gene DOID:2921 glomerulonephritis ISO RGD:2047 D RGD:9068941 20200609 RGD PMID:20431304|REF_RGD_ID:2325320 12298314 ADM adrenomedullin gene DOID:2921 glomerulonephritis ISO RGD:2047 D RGD:9068941 20200609 RGD associated with Anti-Glomerular Basement Membrane Disease PMID:16735801|REF_RGD_ID:1625317 12298314 ADM adrenomedullin gene DOID:2921 glomerulonephritis ISO RGD:730917 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15063164|PMID:15680492 12298314 ADM adrenomedullin gene DOID:341 peripheral vascular disease ISO RGD:730917 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15350700|REF_RGD_ID:1625302 12298314 ADM adrenomedullin gene DOID:3454 brain infarction treatment ISO RGD:730917 D RGD:9068941 20200609 RGD PMID:21695352|REF_RGD_ID:5508764 12298314 ADM adrenomedullin gene DOID:3892 insulinoma ISO RGD:730917 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, plasma PMID:11331218|REF_RGD_ID:2325319 12298314 ADM adrenomedullin gene DOID:4195 hyperglycemia ISO RGD:730917 D RGD:9068941 20210709 CTD CTD Direct Evidence: therapeutic PMID:33491863 12298314 ADM adrenomedullin gene DOID:5199 ureteral obstruction ISO RGD:2047 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:18945953|REF_RGD_ID:2325637 12298314 ADM adrenomedullin gene DOID:6000 congestive heart failure ISO RGD:2047 D RGD:9068941 20200609 RGD PMID:12623952|REF_RGD_ID:704370 12298314 ADM adrenomedullin gene DOID:630 genetic disease ISO RGD:730917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298314 ADM adrenomedullin gene DOID:6432 pulmonary hypertension ISO RGD:730917 D RGD:9068941 20200609 RGD PMID:14718403|REF_RGD_ID:1625305 12298314 ADM adrenomedullin gene DOID:7693 abdominal aortic aneurysm ISO RGD:730917 D RGD:9068941 20200609 RGD protein:increased expression:mast cell, abdominal aorta PMID:16524566|REF_RGD_ID:1625299 12298314 ADM adrenomedullin gene DOID:8947 diabetic retinopathy ISO RGD:730917 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:19216096|REF_RGD_ID:2313312 12298314 ADM adrenomedullin gene DOID:9000064 Cardiac Arrhythmias ISO RGD:2047 D RGD:9068941 20200609 RGD associated with Myocardial Ischemia PMID:16715121|REF_RGD_ID:1625318 12298314 ADM adrenomedullin gene DOID:9000641 Pain ISO RGD:730917 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043245 12298314 ADM adrenomedullin gene DOID:9001542 Albuminuria ISO RGD:730917 D RGD:9068941 20200609 RGD associated with Hypertension PMID:19424162|REF_RGD_ID:2313311 12298314 ADM adrenomedullin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2047 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16713642|REF_RGD_ID:1625319 12298314 ADM adrenomedullin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730917 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15370692|PMID:16610064 12298314 ADM adrenomedullin gene DOID:9001708 Hemorrhagic Shock ISO RGD:2047 D RGD:9068941 20200609 RGD PMID:15973109|REF_RGD_ID:7364990 12298314 ADM adrenomedullin gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:730917 D RGD:9068941 20200609 RGD PMID:18403050|REF_RGD_ID:7364987 12298314 ADM adrenomedullin gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2047 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver,plasma: PMID:19212187|REF_RGD_ID:7364958 12298314 ADM adrenomedullin gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:730917 D RGD:9068941 20200609 RGD PMID:19212187|REF_RGD_ID:7364958 12298314 ADM adrenomedullin gene DOID:9002211 Hyperalgesia ISO RGD:2047 D RGD:9068941 20200609 RGD PMID:17043245|REF_RGD_ID:1625316 12298314 ADM adrenomedullin gene DOID:9002211 Hyperalgesia ISO RGD:730917 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043245 12298314 ADM adrenomedullin gene DOID:9002802 Acidoses ISO RGD:2047 D RGD:9068941 20200609 RGD associated with Hemorrhage PMID:17255858|REF_RGD_ID:1625312 12298314 ADM adrenomedullin gene DOID:9004009 Reperfusion Injury ISO RGD:2047 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:17263982|REF_RGD_ID:7364988 12298314 ADM adrenomedullin gene DOID:9004484 Sepsis ISO RGD:2047 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:20132852|REF_RGD_ID:7364952 12298314 ADM adrenomedullin gene DOID:9004484 Sepsis ISO RGD:730917 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14766677 12298314 ADM adrenomedullin gene DOID:9004484 Sepsis treatment ISO RGD:730917 D RGD:9068941 20200609 RGD PMID:19009024|REF_RGD_ID:7364986 12298314 ADM adrenomedullin gene DOID:9004484 Sepsis treatment ISO RGD:730917 D RGD:9068941 20200609 RGD associated with Jaundice,Obstructive; PMID:20132852|REF_RGD_ID:7364952 12298314 ADM adrenomedullin gene DOID:9004663 Intestinal Ischemia ISO RGD:2047 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:17263982|REF_RGD_ID:7364988 12298314 ADM adrenomedullin gene DOID:9005587 Starvation ISO RGD:2047 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:stomach PMID:17335899|REF_RGD_ID:1625307 12298314 ADM adrenomedullin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2047 D RGD:9068941 20200609 RGD protein:increased expression:pigmented epithelial cell, retina PMID:16955796|REF_RGD_ID:1625296 12298314 ADM adrenomedullin gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2047 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:20538296|REF_RGD_ID:7364948 12298314 ADM adrenomedullin gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:730917 D RGD:9068941 20200609 RGD PMID:20538296|REF_RGD_ID:7364948 12298314 ADM adrenomedullin gene DOID:9007096 Stroke ISO RGD:2047 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:21695352|REF_RGD_ID:5508764 12298314 ADM adrenomedullin gene DOID:9007102 Myocardial Ischemia ISO RGD:730917 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15350700|REF_RGD_ID:1625302 12298314 ADM adrenomedullin gene DOID:9007692 Insulin Resistance ISO RGD:730917 D RGD:9068941 20210709 CTD CTD Direct Evidence: therapeutic PMID:33491863 12298314 ADM adrenomedullin gene DOID:9256 colorectal cancer ISO RGD:730917 D RGD:9068941 20220609 RGD mRNA,protein:increased expression:colorectum (human) PMID:21839130|REF_RGD_ID:152985531 12298314 ADM adrenomedullin gene DOID:9352 type 2 diabetes mellitus ISO RGD:730917 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17557032|REF_RGD_ID:2313313 12298314 ADM adrenomedullin gene DOID:9970 obesity ISO RGD:730917 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:adipose tissue PMID:16793965|REF_RGD_ID:1625297 12298322 LRIG3 leucine rich repeats and immunoglobulin like domains 3 gene DOID:630 genetic disease ISO RGD:1347856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298348 MSI2 musashi RNA binding protein 2 gene DOID:0050777 Joubert syndrome ISO RGD:1352746 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12298348 MSI2 musashi RNA binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1352746 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12298348 MSI2 musashi RNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1352746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298375 TFPI2 tissue factor pathway inhibitor 2 gene DOID:1793 pancreatic cancer ISO RGD:736798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16965396 12298375 TFPI2 tissue factor pathway inhibitor 2 gene DOID:1909 melanoma ISO RGD:736798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17372906 12298375 TFPI2 tissue factor pathway inhibitor 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12298375 TFPI2 tissue factor pathway inhibitor 2 gene DOID:630 genetic disease ISO RGD:736798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298375 TFPI2 tissue factor pathway inhibitor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:736798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17464989|PMID:28284560 12298375 TFPI2 tissue factor pathway inhibitor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:736798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292528|PMID:17379860 12298375 TFPI2 tissue factor pathway inhibitor 2 gene DOID:8398 osteoarthritis ISO RGD:736798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292528 12298375 TFPI2 tissue factor pathway inhibitor 2 gene DOID:8466 retinal degeneration ISO RGD:736798 D RGD:9068941 20200609 RGD PMID:15184935|REF_RGD_ID:11060273 12298375 TFPI2 tissue factor pathway inhibitor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17372906 12298375 TFPI2 tissue factor pathway inhibitor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12298375 TFPI2 tissue factor pathway inhibitor 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736798 D RGD:9068941 20200609 RGD PMID:11687973|REF_RGD_ID:11060269 12298375 TFPI2 tissue factor pathway inhibitor 2 gene DOID:9006182 Carotid Artery Injuries ISO RGD:628629 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:carotid artery: PMID:20537494|REF_RGD_ID:11060271 12298375 TFPI2 tissue factor pathway inhibitor 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19435926 12298375 TFPI2 tissue factor pathway inhibitor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:736798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 12298375 TFPI2 tissue factor pathway inhibitor 2 gene DOID:9119 acute myeloid leukemia ISO RGD:736798 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:22052167|REF_RGD_ID:11060127 12298384 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:0080422 Dravet syndrome ISO RGD:1314561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 12298384 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:0111940 immunodeficiency 42 ISO RGD:1314561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12298384 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12298384 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314561 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12298384 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:11054 urinary bladder cancer ISO RGD:1314561 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 12298384 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:1540 parathyroid carcinoma ISO RGD:1314561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12298384 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:5812 MHC class II deficiency ISO RGD:1314561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12298384 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:630 genetic disease ISO RGD:1314561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298384 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:9000081 Lymphatic Metastasis ISO RGD:1314561 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 12298384 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:9002170 Experimental Neoplasms ISO RGD:1314561 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 12298384 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1314561 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 12298384 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12298413 COMMD6 COMM domain containing 6 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1606132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12298413 COMMD6 COMM domain containing 6 gene DOID:630 genetic disease ISO RGD:1606132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298424 BMP2 bone morphogenetic protein 2 gene DOID:0050591 tooth agenesis ISO RGD:733110 D RGD:9068941 20200609 RGD DNA:SNPs:cds:c.261A>G(p.S87S),c.570A>T (p.R190S)(human) PMID:23079991|REF_RGD_ID:13446405 12298424 BMP2 bone morphogenetic protein 2 gene DOID:0050830 peripheral artery disease ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27082954 12298424 BMP2 bone morphogenetic protein 2 gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:733110 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Transposition of the great arteries, dextro-looped 12298424 BMP2 bone morphogenetic protein 2 gene DOID:0080001 bone disease ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22023753 12298424 BMP2 bone morphogenetic protein 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:733110 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12298424 BMP2 bone morphogenetic protein 2 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:733110 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Atrial septal defect 1 12298424 BMP2 bone morphogenetic protein 2 gene DOID:0110965 brachydactyly type A2 ISO RGD:733110 D RGD:7240710 20180130 OMIM 12298424 BMP2 bone morphogenetic protein 2 gene DOID:0110965 brachydactyly type A2 ISO RGD:733110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly type A2 PMID:19327734|PMID:21357617|PMID:25741868|PMID:28492532 12298424 BMP2 bone morphogenetic protein 2 gene DOID:0111029 hemochromatosis type 1 ISO RGD:733110 D RGD:7240710 20180130 OMIM 12298424 BMP2 bone morphogenetic protein 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:733110 D RGD:9068941 20200609 RGD PMID:15042598|REF_RGD_ID:2299981 12298424 BMP2 bone morphogenetic protein 2 gene DOID:10283 prostate cancer susceptibility ISO RGD:733110 D RGD:9068941 20200609 RGD DNA:amplification:prostate gland PMID:17656261|REF_RGD_ID:2289030 12298424 BMP2 bone morphogenetic protein 2 gene DOID:10286 prostate carcinoma disease_progression ISO RGD:733110 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:16519147|REF_RGD_ID:1643592 12298424 BMP2 bone morphogenetic protein 2 gene DOID:11476 osteoporosis ISO RGD:733110 D RGD:9068941 20200609 RGD PMID:17002564|REF_RGD_ID:1625350 12298424 BMP2 bone morphogenetic protein 2 gene DOID:11830 myopia ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 12298424 BMP2 bone morphogenetic protein 2 gene DOID:12185 otosclerosis susceptibility ISO RGD:733110 D RGD:9068941 20200609 RGD DNA:SNP:3'UTR:rs3178250(human) PMID:18021008|REF_RGD_ID:8698669 12298424 BMP2 bone morphogenetic protein 2 gene DOID:1324 lung cancer ISO RGD:733110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:21515830|PMID:24465802|PMID:26253951 12298424 BMP2 bone morphogenetic protein 2 gene DOID:13832 patent ductus arteriosus ISO RGD:733110 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: PDA1 12298424 BMP2 bone morphogenetic protein 2 gene DOID:182 calcinosis ISO RGD:733110 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:30963258|PMID:31843813 12298424 BMP2 bone morphogenetic protein 2 gene DOID:2340 craniosynostosis ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23160099 12298424 BMP2 bone morphogenetic protein 2 gene DOID:2352 hemochromatosis ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12298424 BMP2 bone morphogenetic protein 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:733110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12298424 BMP2 bone morphogenetic protein 2 gene DOID:4676 uremia ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 12298424 BMP2 bone morphogenetic protein 2 gene DOID:630 genetic disease ISO RGD:733110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12298424 BMP2 bone morphogenetic protein 2 gene DOID:8398 osteoarthritis susceptibility ISO RGD:733110 D RGD:9068941 20200609 RGD PMID:15334463|REF_RGD_ID:1625347 12298424 BMP2 bone morphogenetic protein 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2211 D RGD:9068941 20200609 RGD PMID:23770801|REF_RGD_ID:9068404 12298424 BMP2 bone morphogenetic protein 2 gene DOID:9000082 Craniosynostosis 7 ISO RGD:733110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis 7 PMID:27606499 12298424 BMP2 bone morphogenetic protein 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16314833 12298424 BMP2 bone morphogenetic protein 2 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29800642 12298424 BMP2 bone morphogenetic protein 2 gene DOID:9001547 Tibial Fractures ISO RGD:2211 D RGD:9068941 20200609 RGD protein:increased expression:tibia PMID:16651391|REF_RGD_ID:2289037 12298424 BMP2 bone morphogenetic protein 2 gene DOID:9002371 Cardiotoxicity ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29800642 12298424 BMP2 bone morphogenetic protein 2 gene DOID:9002589 Bone Fractures ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27394662 12298424 BMP2 bone morphogenetic protein 2 gene DOID:9004538 Hearing Loss ISO RGD:733110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30872814 12298424 BMP2 bone morphogenetic protein 2 gene DOID:9004675 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies ISO RGD:733110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies PMID:25741868|PMID:28492532|PMID:29198724 12298424 BMP2 bone morphogenetic protein 2 gene DOID:9004971 Right Ventricle Hypoplasia ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29800642 12298424 BMP2 bone morphogenetic protein 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 12298424 BMP2 bone morphogenetic protein 2 gene DOID:9008939 Breast Neoplasms ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 12298424 BMP2 bone morphogenetic protein 2 gene DOID:9009129 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 1 ISO RGD:733110 D RGD:7240710 20190315 OMIM 12298424 BMP2 bone morphogenetic protein 2 gene DOID:9009129 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 1 ISO RGD:733110 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 PMID:25741868|PMID:29198724|PMID:35227291 12298431 VAV3 vav guanine nucleotide exchange factor 3 gene DOID:10763 hypertension ISO RGD:1343957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21115475 12298431 VAV3 vav guanine nucleotide exchange factor 3 gene DOID:12849 autistic disorder ISO RGD:1343957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12298431 VAV3 vav guanine nucleotide exchange factor 3 gene DOID:2986 IgA glomerulonephritis ISO RGD:1343957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25305756 12298431 VAV3 vav guanine nucleotide exchange factor 3 gene DOID:630 genetic disease ISO RGD:1343957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298431 VAV3 vav guanine nucleotide exchange factor 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17909013 12298431 VAV3 vav guanine nucleotide exchange factor 3 gene DOID:9002554 Tachycardia ISO RGD:1343957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21115475 12298431 VAV3 vav guanine nucleotide exchange factor 3 gene DOID:9006680 Hyperventilation ISO RGD:1343957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21115475 12298463 CCDC56 coiled-coil domain containing 56 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1606307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:25604084 12298463 CCDC56 coiled-coil domain containing 56 gene DOID:630 genetic disease ISO RGD:1606307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12298463 CCDC56 coiled-coil domain containing 56 gene DOID:9008434 Mitochondrial Complex IV Deficiency, Nuclear Type 14 ISO RGD:1606307 D RGD:7240710 20201111 OMIM 12298469 PPP2CB protein phosphatase 2 catalytic subunit beta gene DOID:630 genetic disease ISO RGD:736927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298480 CTNNA2 catenin alpha 2 gene DOID:0050453 lissencephaly ISO RGD:1312865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30013181 12298480 CTNNA2 catenin alpha 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1312865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12298480 CTNNA2 catenin alpha 2 gene DOID:630 genetic disease ISO RGD:1312865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298480 CTNNA2 catenin alpha 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1312865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24816253 12298480 CTNNA2 catenin alpha 2 gene DOID:9001005 Complex Cortical Dysplasia with Other Brain Malformations 9 ISO RGD:1312865 D RGD:7240710 20190315 OMIM 12298480 CTNNA2 catenin alpha 2 gene DOID:9001005 Complex Cortical Dysplasia with Other Brain Malformations 9 ISO RGD:1312865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 9 PMID:25741868|PMID:30013181 12298503 CTSD cathepsin D gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12298503 CTSD cathepsin D gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1351014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12298503 CTSD cathepsin D gene DOID:0080600 COVID-19 ISO RGD:1351014 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12298503 CTSD cathepsin D gene DOID:0080773 delta beta-thalassemia ISO RGD:1351014 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12298503 CTSD cathepsin D gene DOID:0110725 neuronal ceroid lipofuscinosis 10 IAGP D RGD:12801476 20211103 OMIA Neuronal ceroid lipofuscinosis, 10 PMID:15715047|PMID:16386934|PMID:16293139|PMID:23338040|PMID:28860089|PMID:32219101|PMID:33769611 12298503 CTSD cathepsin D gene DOID:0110725 neuronal ceroid lipofuscinosis 10 ISO RGD:1351014 D RGD:7240710 20180130 OMIM 12298503 CTSD cathepsin D gene DOID:0110725 neuronal ceroid lipofuscinosis 10 ISO RGD:1351014 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 10 PMID:10218883|PMID:16670177|PMID:16685649|PMID:24767253|PMID:25298308|PMID:25741868|PMID:26467025|PMID:27249223|PMID:28492532|PMID:29140481|PMID:33681191 12298503 CTSD cathepsin D gene DOID:0111969 immunodeficiency 39 ISO RGD:1351014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12298503 CTSD cathepsin D gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12298503 CTSD cathepsin D gene DOID:10652 Alzheimer's disease ISO RGD:1351014 D RGD:9068941 20200806 RGD PMID:11304834|REF_RGD_ID:1358532 12298503 CTSD cathepsin D gene DOID:10652 Alzheimer's disease ISO RGD:1351014 D RGD:9068941 20200806 RGD protein:decreased expression:lymphocyte: PMID:15907478|REF_RGD_ID:1358533 12298503 CTSD cathepsin D gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1351014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10218883|PMID:16199547|PMID:16670177|PMID:16685649|PMID:17576681|PMID:18762956|PMID:24767253|PMID:25298308|PMID:25741868|PMID:26059544|PMID:26467025|PMID:27249223|PMID:28492532|PMID:29140481|PMID:29373990|PMID:32421885|PMID:33681191|PMID:34331747|PMID:9536098 12298503 CTSD cathepsin D gene DOID:1612 breast cancer ISO RGD:1351014 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:12140763|REF_RGD_ID:1547890 12298503 CTSD cathepsin D gene DOID:1826 epilepsy ISO RGD:1351014 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12298503 CTSD cathepsin D gene DOID:1936 atherosclerosis ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:12213722|REF_RGD_ID:5687152 12298503 CTSD cathepsin D gene DOID:4450 renal cell carcinoma ISO RGD:1351014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 12298503 CTSD cathepsin D gene DOID:557 kidney disease ISO RGD:1351014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15213268 12298503 CTSD cathepsin D gene DOID:630 genetic disease ISO RGD:1351014 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10218883|PMID:16670177|PMID:17576681|PMID:18762956|PMID:24767253|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 12298503 CTSD cathepsin D gene DOID:684 hepatocellular carcinoma ISO RGD:1351014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12298503 CTSD cathepsin D gene DOID:7148 rheumatoid arthritis ISO RGD:1351014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 12298503 CTSD cathepsin D gene DOID:8398 osteoarthritis ISO RGD:1351014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12298503 CTSD cathepsin D gene DOID:9000965 Neoplasm Metastasis ISO RGD:1351014 D RGD:9068941 20200609 RGD protein:increased expression:oral cavity, oropharynx, hypopharynx (human) PMID:10562684|REF_RGD_ID:1547892 12298503 CTSD cathepsin D gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351014 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:28468961 12298503 CTSD cathepsin D gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12298503 CTSD cathepsin D gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1351014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12298503 CTSD cathepsin D gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1351014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 12298503 CTSD cathepsin D gene DOID:9004657 Weight Gain ISO RGD:1351014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12298516 FUT2 fucosyltransferase 2 gene DOID:0050731 vitamin B12 deficiency ISO RGD:735387 D RGD:7240710 20181003 OMIM 12298516 FUT2 fucosyltransferase 2 gene DOID:0050731 vitamin B12 deficiency ISO RGD:735387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitamin b12 plasma level quantitative trait locus 1 PMID:12692541|PMID:18776911|PMID:25741868|PMID:30401457|PMID:7876234|PMID:7876235|PMID:8755920|PMID:8928486 12298516 FUT2 fucosyltransferase 2 gene DOID:0080600 COVID-19 ISO RGD:735387 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 12298516 FUT2 fucosyltransferase 2 gene DOID:10754 otitis media ISO RGD:735387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Otitis Media PMID:12692541|PMID:18776911|PMID:25741868|PMID:30401457|PMID:7876234|PMID:7876235|PMID:8755920|PMID:8928486 12298516 FUT2 fucosyltransferase 2 gene DOID:630 genetic disease ISO RGD:735387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298516 FUT2 fucosyltransferase 2 gene DOID:8778 Crohn's disease ISO RGD:735387 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 12298516 FUT2 fucosyltransferase 2 gene DOID:9000024 Norwalk Virus Infections ISO RGD:735387 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: SECRETOR/NONSECRETOR POLYMORPHISM PMID:12692541|PMID:18776911|PMID:25741868|PMID:30401457|PMID:7876234|PMID:7876235 12298516 FUT2 fucosyltransferase 2 gene DOID:9003153 FUCOSYLTRANSFERASE 6 DEFICIENCY ISO RGD:735387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fucosyltransferase 6 deficiency PMID:25741868|PMID:30401457 12298516 FUT2 fucosyltransferase 2 gene DOID:9006923 Caliciviridae Infections ISO RGD:735387 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12692541 12298528 DNTT DNA nucleotidylexotransferase gene DOID:630 genetic disease ISO RGD:1312854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298528 DNTT DNA nucleotidylexotransferase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1312854 D RGD:9068941 20200609 RGD protein:increased activity:peripheral blood,bone marrow: PMID:7020399|REF_RGD_ID:8694149 12298542 ADO 2-aminoethanethiol dioxygenase gene DOID:630 genetic disease ISO RGD:1317890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298547 TNRC18 trinucleotide repeat containing 18 gene DOID:11372 megacolon ISO RGD:2291816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12298547 TNRC18 trinucleotide repeat containing 18 gene DOID:630 genetic disease ISO RGD:2291816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12298581 DGKK diacylglycerol kinase kappa gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12298581 DGKK diacylglycerol kinase kappa gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1603361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 12298581 DGKK diacylglycerol kinase kappa gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1603361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12298581 DGKK diacylglycerol kinase kappa gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1603361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12298581 DGKK diacylglycerol kinase kappa gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1603361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12298581 DGKK diacylglycerol kinase kappa gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1603361 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 12298581 DGKK diacylglycerol kinase kappa gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1603361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12298581 DGKK diacylglycerol kinase kappa gene DOID:10892 hypospadias ISO RGD:1603361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21113153|PMID:27098078 12298581 DGKK diacylglycerol kinase kappa gene DOID:12849 autistic disorder ISO RGD:1603361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12298581 DGKK diacylglycerol kinase kappa gene DOID:630 genetic disease ISO RGD:1603361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298615 AOX2 aldehyde oxidase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733539 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12298615 AOX2 aldehyde oxidase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:733539 D RGD:9068941 20200609 RGD PMID:7570184|REF_RGD_ID:734575 12298615 AOX2 aldehyde oxidase 2 gene DOID:630 genetic disease ISO RGD:733539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298615 AOX2 aldehyde oxidase 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:733539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12298615 AOX2 aldehyde oxidase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733539 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 12298615 AOX2 aldehyde oxidase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12298704 C28H10orf95 chromosome 28 C10orf95 homolog gene DOID:630 genetic disease ISO RGD:1349493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298715 CRYBG1 crystallin beta-gamma domain containing 1 gene DOID:1909 melanoma ISO RGD:1318513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22402438 12298715 CRYBG1 crystallin beta-gamma domain containing 1 gene DOID:630 genetic disease ISO RGD:1318513 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298715 CRYBG1 crystallin beta-gamma domain containing 1 gene DOID:9000918 Disease Progression ISO RGD:1318513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22402438 12298715 CRYBG1 crystallin beta-gamma domain containing 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1318513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:0050861 colorectal adenocarcinoma treatment ISO RGD:732968 D RGD:9068941 20220121 RGD associated with Neoplasm Metastasis; DNA:missense mutation:cds: p.R399Q, c.1196G>A (human) PMID:19908066|REF_RGD_ID:150573820 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNP: :p.R280H (human) PMID:26482462|REF_RGD_ID:11075607 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:0050908 myelodysplastic syndrome no_association ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNP: :p.R194W, p.R399Q (human) PMID:26482462|REF_RGD_ID:11075607 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:732968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:0080199 colorectal carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20211224 RGD DNA:SNPs:exon 6, exon 10: p.R194W, p.R399Q (human) PMID:28638257|REF_RGD_ID:150539031 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:0080260 autosomal recessive spinocerebellar ataxia 26 ISO RGD:732968 D RGD:7240710 20190315 OMIM 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:0080260 autosomal recessive spinocerebellar ataxia 26 ISO RGD:732968 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 26 PMID:16875718|PMID:19362955|PMID:20530282|PMID:21057378|PMID:22026922|PMID:22188361|PMID:22761669|PMID:22992668|PMID:24224851|PMID:24446315|PMID:25025378|PMID:25232828|PMID:25741868|PMID:27248474|PMID:27636246|PMID:28002403|PMID:28422153|PMID:28743242|PMID:29662106 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R399Q PMID:17491266|REF_RGD_ID:2302571 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer ameliorates ISO RGD:732968 D RGD:9068941 20220811 RGD DNA:missense mutation:CDS:p.R399Q (human) PMID:23604281|REF_RGD_ID:150530625 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:732968 D RGD:9068941 20220107 RGD DNA:SNP:exon 10: p.R399Q, 399G>A(human) PMID:21378360|REF_RGD_ID:150540335 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNP:: p.R194W (human) PMID:27706710|REF_RGD_ID:150530630 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:732968 D RGD:9068941 20211224 RGD DNA:SNPs:exon 6, exon 10: C>T p.R194W, G>A p.R399Q (human) PMID:27221877|REF_RGD_ID:150537038 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:732968 D RGD:9068941 20211224 RGD DNA:SNPs:exon 9, exon 17: c.910A>G, c.1804C>A (human) PMID:23983608|REF_RGD_ID:150530647 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer treatment ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNP: 399A>G (human) PMID:26770441|REF_RGD_ID:150530623 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer treatment ISO RGD:732968 D RGD:9068941 20220114 RGD DNA:missense mutation:cds: p.R399Q G>A (human) PMID:17593927|REF_RGD_ID:150573705 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer treatment ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutation:cds: p.R194W (human) PMID:20331623|REF_RGD_ID:151232294 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:11054 urinary bladder cancer no_association ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple PMID:17425776|REF_RGD_ID:2302572 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R399Q PMID:18765423|REF_RGD_ID:2302568 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNP: p.R399Q (human) PMID:18272472|REF_RGD_ID:150530493 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:11088 asphyxia neonatorum ISO RGD:619823 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:9763211|REF_RGD_ID:2302855 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:11832 visual epilepsy ISO RGD:619823 D RGD:9068941 20200609 RGD protein:increased expression:brain, neuron PMID:15854596|REF_RGD_ID:2302852 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:12336 male infertility ISO RGD:732968 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:30998386 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:12549 hepatitis A susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs1001581) (human) PMID:29558945|REF_RGD_ID:15036793 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:12549 hepatitis A susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R194W (rs1799782) (human) PMID:22135187|REF_RGD_ID:15014793 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:127 leiomyoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R399Q PMID:15760950|REF_RGD_ID:2302578 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer no_association ISO RGD:732968 D RGD:9068941 20220128 RGD DNA:missense mutation:cds: p.R399Q (human) PMID:15705867|REF_RGD_ID:151347439 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer onset ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutation:exon 10: p.R399Q (human) PMID:25584213|REF_RGD_ID:151347407 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer severity ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutation:exon 10: p.R399Q, 28152G>A (human) PMID:17952468|REF_RGD_ID:151347172 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer susceptibility ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:SNP:exon 10: c.1178G>A, p.R393H (human) PMID:24935603|REF_RGD_ID:11056906 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer susceptibility ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutation:exon 17: c.1804C>A, p.P602T (human) PMID:27323144|REF_RGD_ID:151236316 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer susceptibility ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutations:cds: p.R399Q, p.R194W (human) PMID:17531525|REF_RGD_ID:151347426 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer susceptibility ISO RGD:732968 D RGD:9068941 20220128 RGD DNA:SNP, haplotype:5'utr: 77T>C (rs3213245) (human) PMID:16652158|REF_RGD_ID:151232296 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer susceptibility ISO RGD:732968 D RGD:9068941 20220128 RGD DNA:SNPs, haplotypes:exon 6, exon 7: p.R194W, p.P206P (rs179978, rs915927) (human) PMID:19061777|REF_RGD_ID:151347416 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer susceptibility ISO RGD:732968 D RGD:9068941 20220128 RGD DNA:missense mutation:exon 10: p.R399Q (rs25487) (human) PMID:25038912|REF_RGD_ID:151347450 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:1790 malignant mesothelioma treatment ISO RGD:732968 D RGD:9068941 20220121 RGD PMID:22982660|REF_RGD_ID:151347428 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:1793 pancreatic cancer ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs1799782 (human) PMID:16520463|REF_RGD_ID:2317367 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:1875 impotence susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;DNA:polymorphism: :p.R280H PMID:18582155|REF_RGD_ID:2302570 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:2043 hepatitis B susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype:cds:p.R399Q (human) PMID:23454624|REF_RGD_ID:15036794 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:619823 D RGD:9068941 20200609 RGD PMID:19840223|REF_RGD_ID:2325713 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:2600 laryngeal carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:SNPs, haplotype:: (rs3213403, rs1799778, rs3213282) (human) PMID:24956286|REF_RGD_ID:151236314 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:2600 laryngeal carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutation:cds: p.R280H (human) PMID:27808358|REF_RGD_ID:151236313 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:2671 transitional cell carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNP: :p.R194W PMID:18199464|REF_RGD_ID:2293824 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:2773 contact dermatitis susceptibility ISO RGD:732968 D RGD:9068941 20211231 RGD associated with nasopharynx carcinoma;DNA:SNP:cds: p.R399Q (human) PMID:23375119|REF_RGD_ID:150539032 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:3008 invasive ductal carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R399Q PMID:18752184|REF_RGD_ID:2302569 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:3070 high grade glioma ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25227852 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:3121 gallbladder cancer susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.R194W, p.R399Q (human) PMID:19266243|REF_RGD_ID:2317128 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:3571 liver cancer severity ISO RGD:732968 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:30088263|REF_RGD_ID:15036795 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16639733 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:3748 esophagus squamous cell carcinoma no_association ISO RGD:732968 D RGD:9068941 20220128 RGD DNA:missense mutation:cds: p.R399Q (human) PMID:11400117|REF_RGD_ID:151347444 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220128 RGD DNA:SNPs,haplotypes:multiple (human) PMID:25710005|REF_RGD_ID:150530501 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:3748 esophagus squamous cell carcinoma treatment ISO RGD:732968 D RGD:9068941 20211217 RGD PMID:28356949|REF_RGD_ID:150530505 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:3748 esophagus squamous cell carcinoma treatment ISO RGD:732968 D RGD:9068941 20211224 RGD DNA:SNPs:exon 6, exon 9, exon 10:multiple (human) PMID:27123143|REF_RGD_ID:150530634 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:19157633 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:SNP:3'utr: (rs25487) (human) PMID:26345972|REF_RGD_ID:11251107 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutation:cds: p.R194W (human) PMID:26097609|REF_RGD_ID:11538163 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutations:cds:p.R194W, p.R399Q (human) PMID:25308691|REF_RGD_ID:151232295 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732968 D RGD:9068941 20210604 RGD DNA:missense mutation:p.R399Q (human) PMID:23549037|REF_RGD_ID:127229950 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732968 D RGD:9068941 20220121 RGD PMID:15301704|PMID:19157633|PMID:19958624|PMID:22152690|PMID:24446315|PMID:24782167|REF_RGD_ID:11097268|REF_RGD_ID:151232297|REF_RGD_ID:151347175|REF_RGD_ID:151347402|REF_RGD_ID:151347410|REF_RGD_ID:151347427 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:3910 lung adenocarcinoma severity ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutation:exon 10: p.R399Q (rs25487) (human) PMID:20003463|REF_RGD_ID:151347422 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutation:cds: p.R399Q (human) PMID:11104903|REF_RGD_ID:151347406 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:4362 cervical cancer ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R194W PMID:18851872|REF_RGD_ID:2302567 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:4440 seminoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R399Q PMID:16596238|REF_RGD_ID:2302576 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNP: :p.R399Q PMID:16510122|REF_RGD_ID:2302577 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:5041 esophageal cancer susceptibility ISO RGD:732968 D RGD:9068941 20220128 RGD DNA:missense mutation:exon 9: p.T304A, c.910A>G (human) PMID:24345911|REF_RGD_ID:150530620 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:missense mutation:cds:p.R194W (human) PMID:29935355|REF_RGD_ID:15036797 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD associated with Human Viral Hepatitis;DNA:missense mutation:cds:p.R399Q (rs25487) (human) PMID:24018491|REF_RGD_ID:14985244 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:missense mutation, haplotype:cds:p.R399Q (human) PMID:23454624|REF_RGD_ID:15036794 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:5419 schizophrenia ISO RGD:732968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:5517 stomach carcinoma onset ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNP::p.R194W (human) PMID:20863780|REF_RGD_ID:150530627 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:6270 gastric cardia carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNP::p.R194W (human) PMID:20863780|REF_RGD_ID:150530627 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:6271 gastric cardia adenocarcinoma susceptibility ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNP:cds: p.R399Q (human) PMID:16890595|REF_RGD_ID:150530492 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:630 genetic disease ISO RGD:732968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNPs:cds: 194C>T, 280A>G (human) PMID:28927037|REF_RGD_ID:150530503 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma no_association ISO RGD:732968 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:missense mutation:cds:p.R399Q (human) PMID:29935355|REF_RGD_ID:15036797 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R399Q (28152G>A) (rs25487) (human) PMID:26918371|REF_RGD_ID:14985240 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R399Q (rs25487) (human) PMID:23534753|REF_RGD_ID:15014791 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:732968 D RGD:9068941 20220107 RGD associated with Chronic Hepatitis C;DNA:SNP:exon 14: c.1517G>C, p.506G>A (human) PMID:32334466|REF_RGD_ID:150540333 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNPs:exons:c.1254C>T, c.1517G>C (human) PMID:23984316|REF_RGD_ID:15014789 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.1804C>A (p.G506A) (human) PMID:24526467|REF_RGD_ID:14985242 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R399Q (human) PMID:22502666|REF_RGD_ID:14985243 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R399Q (rs25487) (human) PMID:28058700|PMID:29682247|REF_RGD_ID:14696702|REF_RGD_ID:14985238 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:c.482C>T, c.1178G>A (p.P161L, p.R393H) (human) PMID:24570146|REF_RGD_ID:14696772 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.R194W, p.R280H, p.R399Q (human) PMID:19194663|REF_RGD_ID:15014792 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:silent mutation, missense mutation:cds:c.1161G>A, c.1779C>G (p.L387L, p.S593R) (human) PMID:23493666|REF_RGD_ID:14696773 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:missense mutation:cds:p.R194W (human) PMID:29935355|REF_RGD_ID:15036797 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:missense mutation, haplotype:cds:p.R399Q (human) PMID:14519756|PMID:23454624|REF_RGD_ID:15014790|REF_RGD_ID:15036794 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNP:exon 13: c.1471G>A, p.E491K (human) PMID:24446299|REF_RGD_ID:150530624 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220107 RGD DNA:SNPs:exon 9, exon 15: c.910A>G, c.1686C>G (human) PMID:24634229|REF_RGD_ID:150540332 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:83 cataract ISO RGD:732969 D RGD:9068941 20200609 RGD associated with Radiation Injuries PMID:18334943|REF_RGD_ID:10401127 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNP:cds :p.R194W(human) PMID:26250462|REF_RGD_ID:11081180 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:8719 in situ carcinoma ISO RGD:619823 D RGD:9068941 20200609 RGD associated with Lung Neoplasms PMID:21530494|REF_RGD_ID:10045659 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22452940 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9000965 Neoplasm Metastasis susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD associated with Neoplasms, Germ Cell and Embryonal;DNA:polymorphism: :p.R399Q PMID:16596238|REF_RGD_ID:2302576 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9001629 5 Alpha Fluorouracil Toxicity susceptibility ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:missense mutation:CDS:p.R399Q (human) PMID:23604281|REF_RGD_ID:150530625 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia no_association ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNP: :p.R194W (rs1799782), p.R280H (25489) (human) PMID:19484764|REF_RGD_ID:11252204 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNP: :p.R399Q (rs25487) (human) PMID:19484764|REF_RGD_ID:11252204 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16406883|PMID:17196815|PMID:17486273 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9003216 Salivary Gland Neoplasms severity ISO RGD:732968 D RGD:9068941 20211224 RGD protein:decreased expression:saliva-secreting gland (human) PMID:33202356|REF_RGD_ID:150530645 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9003566 Mesothelioma ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16564556|PMID:20705543 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9003996 Birth Weight ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27592400 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9004009 Reperfusion Injury ISO RGD:619823 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17412650|REF_RGD_ID:2302580 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R194W, p.R280H, p.R399Q (human) PMID:29935355|REF_RGD_ID:15036797 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9005463 Occupational Diseases ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15612468 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20223788|PMID:21351625 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9006976 Erythema ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24594932 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9007329 Human Viral Hepatitis susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R194W, p.R280H (human) PMID:19194663|REF_RGD_ID:15014792 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9007364 Mouth Neoplasms susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:haplotye:: PMID:17290401|REF_RGD_ID:8552678 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:732969 D RGD:9068941 20200609 RGD DNA:haploinsufficiency: : (mouse) PMID:21737425|REF_RGD_ID:15036796 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:17381415|REF_RGD_ID:2302573 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9008939 Breast Neoplasms no_association ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.R194W, p.R399Q PMID:16963196|REF_RGD_ID:2302574 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R399Q PMID:19051060|REF_RGD_ID:2302566 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:IVS10+141G>A PMID:16596326|REF_RGD_ID:2302575 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:732968 D RGD:9068941 20220114 RGD DNA:missense mutation:exon 10: p.R399Q (human) PMID:27686263|REF_RGD_ID:150573803 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer severity ISO RGD:732968 D RGD:9068941 20220128 RGD DNA:missense mutation:cds: p.R399Q (human) PMID:22580644|REF_RGD_ID:150540339 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNP:: p.R194W (human) PMID:26434847|REF_RGD_ID:11353313 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732968 D RGD:9068941 20211224 RGD DNA:SNP:cds: p.R399Q (human) PMID:15800946|REF_RGD_ID:150537039 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732968 D RGD:9068941 20211224 RGD DNA:SNP:exon 6: C>T p.R194W (human) PMID:27221877|REF_RGD_ID:150537038 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732968 D RGD:9068941 20220107 RGD DNA:SNP:exon 10: p.R399Q G>A (human) PMID:22524842|REF_RGD_ID:150540340 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732968 D RGD:9068941 20220114 RGD DNA:missense mutation:exon 10: p.R399Q (rs25487) (human) PMID:25227862|REF_RGD_ID:150573806 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer treatment ISO RGD:732968 D RGD:9068941 20211224 RGD DNA:SNP:exon 10: p.R399Q (human) PMID:17009149|REF_RGD_ID:150530641 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer treatment ISO RGD:732968 D RGD:9068941 20211231 RGD DNA:SNP:3'utr: (rs1799782) (human) PMID:33765714|REF_RGD_ID:150539454 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer treatment ISO RGD:732968 D RGD:9068941 20220114 RGD DNA:missense mutation:cds: p.R399Q G>A (human) PMID:22549274|REF_RGD_ID:150573706 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9261 nasopharynx carcinoma sexual_dimorphism ISO RGD:732968 D RGD:9068941 20220107 RGD DNA:missense mutation:cds: p.R194W (human) PMID:16796765|REF_RGD_ID:150573694 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220114 RGD DNA:missense mutation:cds: p.R194W (human) PMID:17630853|REF_RGD_ID:150573708 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220114 RGD DNA:missense mutation:exon 10: p.R399Q G>A, (rs25487) (human) PMID:24175791|REF_RGD_ID:150573698 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220114 RGD associated with Tobacco Use Disorder; DNA:missense mutation:cds: p.R399Q (human) PMID:27356695|REF_RGD_ID:150573697 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9261 nasopharynx carcinoma treatment ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNP:3'utr: (rs25489) (human) PMID:29108254|REF_RGD_ID:150530619 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9637 stomatitis ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24594932 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9655 oral mucosa leukoplakia susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotye:cds:p.R399Q(human) PMID:17290401|REF_RGD_ID:8552678 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9669 senile cataract susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G399A (human) PMID:21599457|REF_RGD_ID:10401083 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983886 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.R194W (human) PMID:19101034|REF_RGD_ID:11252192 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.R399Q (human) PMID:19101034|REF_RGD_ID:11252192 12298741 XRCC1 X-ray repair cross complementing 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype: :p.R399Q (human) PMID:21983886|REF_RGD_ID:11252110 12298762 SUCLG2 succinate-CoA ligase GDP-forming subunit beta gene DOID:0080128 mitochondrial DNA depletion syndrome 9 ISO RGD:1312779 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 12298762 SUCLG2 succinate-CoA ligase GDP-forming subunit beta gene DOID:14749 methylmalonic acidemia ISO RGD:1312779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 12298762 SUCLG2 succinate-CoA ligase GDP-forming subunit beta gene DOID:289 endometriosis ISO RGD:1312779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23284138 12298762 SUCLG2 succinate-CoA ligase GDP-forming subunit beta gene DOID:3910 lung adenocarcinoma ISO RGD:1312779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12298762 SUCLG2 succinate-CoA ligase GDP-forming subunit beta gene DOID:630 genetic disease ISO RGD:1312779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12298762 SUCLG2 succinate-CoA ligase GDP-forming subunit beta gene DOID:9006205 Animal Disease Models ISO RGD:1312779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12298762 SUCLG2 succinate-CoA ligase GDP-forming subunit beta gene DOID:9970 obesity ISO RGD:1312779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12298779 DEUP1 deuterosome assembly protein 1 gene DOID:0080322 polycystic kidney disease ISO RGD:1606948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 12298779 DEUP1 deuterosome assembly protein 1 gene DOID:1059 intellectual disability ISO RGD:1606948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12298779 DEUP1 deuterosome assembly protein 1 gene DOID:3068 glioblastoma ISO RGD:1606948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12298779 DEUP1 deuterosome assembly protein 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1606948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12298779 DEUP1 deuterosome assembly protein 1 gene DOID:630 genetic disease ISO RGD:1606948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298805 RBMS1 RNA binding motif single stranded interacting protein 1 gene DOID:12849 autistic disorder ISO RGD:1317165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 12298805 RBMS1 RNA binding motif single stranded interacting protein 1 gene DOID:630 genetic disease ISO RGD:1317165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298834 VPS4A vacuolar protein sorting 4 homolog A gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:732193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12298834 VPS4A vacuolar protein sorting 4 homolog A gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:732193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic congenital hemolytic and dyserythropoietic anemia PMID:25741868|PMID:33186543|PMID:33186545|PMID:33460484 12298834 VPS4A vacuolar protein sorting 4 homolog A gene DOID:630 genetic disease ISO RGD:732193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298834 VPS4A vacuolar protein sorting 4 homolog A gene DOID:9002030 CIMDAG SYNDROME ISO RGD:732193 D RGD:7240710 20210519 OMIM 12298834 VPS4A vacuolar protein sorting 4 homolog A gene DOID:9002030 CIMDAG SYNDROME ISO RGD:732193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CEREBELLAR HYPOPLASIA, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, CONGENITAL MICROCEPHALY, DYSTONIA, DYSERYTHROPOIETIC ANEMIA, AND GROWTH RETARDATION PMID:25741868|PMID:33186543|PMID:33186545|PMID:33460484 12298858 TRMT5 tRNA methyltransferase 5 gene DOID:0111490 combined oxidative phosphorylation deficiency 26 ISO RGD:1315256 D RGD:7240710 20180130 OMIM 12298858 TRMT5 tRNA methyltransferase 5 gene DOID:0111490 combined oxidative phosphorylation deficiency 26 ISO RGD:1315256 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 26 | ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY WITH VARIABLE SPASTICITY, EXERCISE INTOLERANCE, AND DEVELOPMENTAL DELAY PMID:2544623|PMID:25741868|PMID:26189817|PMID:28492532|PMID:29021354|PMID:31038196|PMID:35342985 12298858 TRMT5 tRNA methyltransferase 5 gene DOID:630 genetic disease ISO RGD:1315256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12298858 TRMT5 tRNA methyltransferase 5 gene DOID:9007844 Branchiootic Syndrome 3 ISO RGD:1315256 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Branchiootic syndrome 3 PMID:25414181|PMID:28492532 12298867 PLEK2 pleckstrin 2 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1314027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 12298867 PLEK2 pleckstrin 2 gene DOID:630 genetic disease ISO RGD:1314027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298867 PLEK2 pleckstrin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12298885 MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1320222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984749|PMID:21984750|PMID:21984751|PMID:25255310 12298885 MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1320222 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12298885 MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1320222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12298885 MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1320222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12298885 MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1320222 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12298885 MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2 gene DOID:1059 intellectual disability ISO RGD:1320222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12298885 MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1320222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298910 NOX3 NADPH oxidase 3 gene DOID:630 genetic disease ISO RGD:1351952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298910 NOX3 NADPH oxidase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12298925 PIGU phosphatidylinositol glycan anchor biosynthesis class U gene DOID:2843 long QT syndrome ISO RGD:1352875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12298925 PIGU phosphatidylinositol glycan anchor biosynthesis class U gene DOID:630 genetic disease ISO RGD:1352875 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12298925 PIGU phosphatidylinositol glycan anchor biosynthesis class U gene DOID:9007893 Glycosylphosphatidylinositol Biosynthesis Defect 21 ISO RGD:1352875 D RGD:7240710 20191002 OMIM 12298925 PIGU phosphatidylinositol glycan anchor biosynthesis class U gene DOID:9007893 Glycosylphosphatidylinositol Biosynthesis Defect 21 ISO RGD:1352875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 21 PMID:25741868|PMID:31353022 12298944 PTPRT protein tyrosine phosphatase receptor type T gene DOID:0060041 autism spectrum disorder ISO RGD:1320107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12298944 PTPRT protein tyrosine phosphatase receptor type T gene DOID:1059 intellectual disability ISO RGD:1320107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12298944 PTPRT protein tyrosine phosphatase receptor type T gene DOID:12849 autistic disorder ISO RGD:1320107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12298944 PTPRT protein tyrosine phosphatase receptor type T gene DOID:219 colon cancer ISO RGD:1320108 D RGD:9068941 20211217 RGD PMID:20133777|REF_RGD_ID:150520184 12298944 PTPRT protein tyrosine phosphatase receptor type T gene DOID:219 colon cancer exacerbates ISO RGD:10166 D RGD:9068941 20220204 RGD PMID:27447856|REF_RGD_ID:150520192 12298944 PTPRT protein tyrosine phosphatase receptor type T gene DOID:2234 focal epilepsy ISO RGD:1320107 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12298944 PTPRT protein tyrosine phosphatase receptor type T gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1320107 D RGD:9068941 20211105 RGD DNA:SNPs:3'utr: (rs2866943 , rs6029959 ) (human) PMID:25967969|REF_RGD_ID:150520191 12298944 PTPRT protein tyrosine phosphatase receptor type T gene DOID:5419 schizophrenia ISO RGD:1320107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12298944 PTPRT protein tyrosine phosphatase receptor type T gene DOID:630 genetic disease ISO RGD:1320107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12298944 PTPRT protein tyrosine phosphatase receptor type T gene DOID:9256 colorectal cancer treatment ISO RGD:1320107 D RGD:9068941 20211105 RGD DNA:deletion: PMID:30200630|REF_RGD_ID:150520195 12298994 CLEC7A C-type lectin domain containing 7A gene DOID:13564 aspergillosis ISO RGD:1343742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aspergillosis, susceptibility to PMID:29489751 12298994 CLEC7A C-type lectin domain containing 7A gene DOID:13564 aspergillosis susceptibility ISO RGD:1343742 D RGD:7240710 20211006 OMIM 12298994 CLEC7A C-type lectin domain containing 7A gene DOID:630 genetic disease ISO RGD:1343742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12299012 SYNE2 spectrin repeat containing nuclear envelope protein 2 gene DOID:0050848 obstructive sleep apnea ISO RGD:1312719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obstructive sleep apnea syndrome PMID:25741868|PMID:28492532|PMID:30755392 12299012 SYNE2 spectrin repeat containing nuclear envelope protein 2 gene DOID:0050952 spastic ataxia ISO RGD:1312719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 12299012 SYNE2 spectrin repeat containing nuclear envelope protein 2 gene DOID:0060224 atrial fibrillation ISO RGD:1312719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22544366|PMID:29892015 12299012 SYNE2 spectrin repeat containing nuclear envelope protein 2 gene DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 ISO RGD:1312719 D RGD:7240710 20180912 OMIM 12299012 SYNE2 spectrin repeat containing nuclear envelope protein 2 gene DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 ISO RGD:1312719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:16199547|PMID:17576681|PMID:17761684|PMID:18414213|PMID:22995991|PMID:25179549|PMID:25214167|PMID:25587064|PMID:25741868|PMID:26094658|PMID:26467025|PMID:27632638|PMID:28074886|PMID:28166811|PMID:28492532|PMID:28798025|PMID:30755392|PMID:9536098 12299012 SYNE2 spectrin repeat containing nuclear envelope protein 2 gene DOID:11383 cryptorchidism ISO RGD:1305248 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:26502805|REF_RGD_ID:12911229 12299012 SYNE2 spectrin repeat containing nuclear envelope protein 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1312719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:26467025|PMID:28492532 12299012 SYNE2 spectrin repeat containing nuclear envelope protein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1312719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 12299012 SYNE2 spectrin repeat containing nuclear envelope protein 2 gene DOID:1969 cerebral palsy ISO RGD:1312719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12299012 SYNE2 spectrin repeat containing nuclear envelope protein 2 gene DOID:397 restrictive cardiomyopathy ISO RGD:1312719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:28492532 12299012 SYNE2 spectrin repeat containing nuclear envelope protein 2 gene DOID:4450 renal cell carcinoma ISO RGD:1312719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 12299012 SYNE2 spectrin repeat containing nuclear envelope protein 2 gene DOID:630 genetic disease ISO RGD:1312719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12299141 NTPCR nucleoside-triphosphatase, cancer-related gene DOID:1540 parathyroid carcinoma ISO RGD:1604264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12299141 NTPCR nucleoside-triphosphatase, cancer-related gene DOID:630 genetic disease ISO RGD:1604264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12299141 NTPCR nucleoside-triphosphatase, cancer-related gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12299162 LTC4S leukotriene C4 synthase gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:733491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 12299162 LTC4S leukotriene C4 synthase gene DOID:0060318 acute promyelocytic leukemia ISO RGD:733491 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 12299162 LTC4S leukotriene C4 synthase gene DOID:0060500 drug allergy ISO RGD:733491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16433794 12299162 LTC4S leukotriene C4 synthase gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:733491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12299162 LTC4S leukotriene C4 synthase gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:733491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10970818|PMID:20485159|PMID:9393345|PMID:9466979 12299162 LTC4S leukotriene C4 synthase gene DOID:0112103 Sotos syndrome 1 ISO RGD:733491 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12299162 LTC4S leukotriene C4 synthase gene DOID:10754 otitis media ISO RGD:10355889 D RGD:9068941 20200609 RGD PMID:20433028|REF_RGD_ID:11553910 12299162 LTC4S leukotriene C4 synthase gene DOID:2921 glomerulonephritis ISO RGD:620677 D RGD:9068941 20200609 RGD protein:altered activity:kidney, cortex (rat) PMID:7827126|REF_RGD_ID:2316641 12299162 LTC4S leukotriene C4 synthase gene DOID:574 peripheral nervous system disease ISO RGD:620677 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord dorsal horn (rat) PMID:19908283|REF_RGD_ID:2316612 12299162 LTC4S leukotriene C4 synthase gene DOID:630 genetic disease ISO RGD:733491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12299162 LTC4S leukotriene C4 synthase gene DOID:9002023 Leukotriene C4 Synthase Deficiency ISO RGD:733491 D RGD:7240710 20180130 OMIM 12299162 LTC4S leukotriene C4 synthase gene DOID:9002023 Leukotriene C4 Synthase Deficiency ISO RGD:733491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukotriene c4 synthase deficiency PMID:25741868 12299162 LTC4S leukotriene C4 synthase gene DOID:9004590 Acute Liver Failure ISO RGD:620677 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (rat) PMID:18461660|REF_RGD_ID:2302283 12299180 PHYHD1 phytanoyl-CoA dioxygenase domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12299180 PHYHD1 phytanoyl-CoA dioxygenase domain containing 1 gene DOID:630 genetic disease ISO RGD:1321250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12299204 TIRAP TIR domain containing adaptor protein gene DOID:0110877 holoprosencephaly 11 ISO RGD:1322402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12299204 TIRAP TIR domain containing adaptor protein gene DOID:0111723 Jacobsen Syndrome ISO RGD:1322402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12299204 TIRAP TIR domain containing adaptor protein gene DOID:12365 malaria ISO RGD:1322402 D RGD:7240710 20230505 OMIM 12299204 TIRAP TIR domain containing adaptor protein gene DOID:12365 malaria ISO RGD:1322402 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malaria, resistance to PMID:16991088|PMID:17322885|PMID:18305471|PMID:25741868 12299204 TIRAP TIR domain containing adaptor protein gene DOID:2945 severe acute respiratory syndrome ISO RGD:1322402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26861016 12299204 TIRAP TIR domain containing adaptor protein gene DOID:399 tuberculosis ISO RGD:1322402 D RGD:7240710 20230505 OMIM 12299204 TIRAP TIR domain containing adaptor protein gene DOID:399 tuberculosis ISO RGD:1322402 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:16991088|PMID:17322885|PMID:18305471|PMID:25741868 12299204 TIRAP TIR domain containing adaptor protein gene DOID:5419 schizophrenia ISO RGD:1322402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12299204 TIRAP TIR domain containing adaptor protein gene DOID:630 genetic disease ISO RGD:1322402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12299204 TIRAP TIR domain containing adaptor protein gene DOID:9000989 Pneumococcal Infections ISO RGD:1322402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17322885 12299204 TIRAP TIR domain containing adaptor protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284379 12299204 TIRAP TIR domain containing adaptor protein gene DOID:9003909 Immunodeficiency 67 ISO RGD:1322402 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Invasive pneumococcal disease, protection against PMID:16991088|PMID:17322885|PMID:18305471|PMID:25741868 12299204 TIRAP TIR domain containing adaptor protein gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12299204 TIRAP TIR domain containing adaptor protein gene DOID:9005036 Bacteremia ISO RGD:1322402 D RGD:7240710 20180130 OMIM 12299204 TIRAP TIR domain containing adaptor protein gene DOID:9005036 Bacteremia ISO RGD:1322402 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bacteremia, susceptibility to, 1 PMID:16991088|PMID:17322885|PMID:18305471|PMID:25741868 12299204 TIRAP TIR domain containing adaptor protein gene DOID:9007661 Dwarfism ISO RGD:1322402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12299240 FBRSL1 fibrosin like 1 gene DOID:0060224 atrial fibrillation ISO RGD:2303695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12299240 FBRSL1 fibrosin like 1 gene DOID:630 genetic disease ISO RGD:2303695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12299240 FBRSL1 fibrosin like 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:2303695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12299240 FBRSL1 fibrosin like 1 gene DOID:9256 colorectal cancer ISO RGD:2303695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 12299266 SNAPC3 small nuclear RNA activating complex polypeptide 3 gene DOID:630 genetic disease ISO RGD:1313043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12299279 SMPX small muscle protein X-linked gene DOID:0050566 X-linked nonsyndromic deafness ISO RGD:736270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked deafness 12299279 SMPX small muscle protein X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12299279 SMPX small muscle protein X-linked gene DOID:0111735 X-linked deafness 4 ISO RGD:736270 D RGD:7240710 20180130 OMIM 12299279 SMPX small muscle protein X-linked gene DOID:0111735 X-linked deafness 4 ISO RGD:736270 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: DEAFNESS, X-LINKED 6, PROGRESSIVE | ClinVar Annotator: match by term: Deafness, X-linked 4 PMID:21549336|PMID:21549342|PMID:22911656|PMID:25741868|PMID:28492532|PMID:8872482 12299279 SMPX small muscle protein X-linked gene DOID:12849 autistic disorder ISO RGD:736270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12299279 SMPX small muscle protein X-linked gene DOID:630 genetic disease ISO RGD:736270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12299279 SMPX small muscle protein X-linked gene DOID:9003346 Distal Myopathy 7 ISO RGD:736270 D RGD:7240710 20220427 OMIM 12299279 SMPX small muscle protein X-linked gene DOID:9003346 Distal Myopathy 7 ISO RGD:736270 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myopathy, distal, 7, adult-onset, X-linked PMID:28492532|PMID:33974137 12299279 SMPX small muscle protein X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12299279 SMPX small muscle protein X-linked gene DOID:9004538 Hearing Loss ISO RGD:736270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 12299288 TMEM215 transmembrane protein 215 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1601903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12299288 TMEM215 transmembrane protein 215 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1601903 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12299288 TMEM215 transmembrane protein 215 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1601903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12299288 TMEM215 transmembrane protein 215 gene DOID:630 genetic disease ISO RGD:1601903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12299288 TMEM215 transmembrane protein 215 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1601903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12299288 TMEM215 transmembrane protein 215 gene DOID:9870 galactosemia ISO RGD:1601903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12299309 CABLES1 Cdk5 and Abl enzyme substrate 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1313589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 12299309 CABLES1 Cdk5 and Abl enzyme substrate 1 gene DOID:1059 intellectual disability ISO RGD:1313589 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12299309 CABLES1 Cdk5 and Abl enzyme substrate 1 gene DOID:630 genetic disease ISO RGD:1313589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12299309 CABLES1 Cdk5 and Abl enzyme substrate 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17982127 12299360 GNL3 G protein nucleolar 3 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1606313 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12299360 GNL3 G protein nucleolar 3 gene DOID:630 genetic disease ISO RGD:1606313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12299389 C26H5orf52 chromosome 26 C5orf52 homolog gene DOID:630 genetic disease ISO RGD:2303474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12299398 LOC100856603 zinc finger protein 2 gene DOID:630 genetic disease ISO RGD:1320138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12299462 ADAL adenosine deaminase like gene DOID:2717 Bloom syndrome ISO RGD:1605272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12299462 ADAL adenosine deaminase like gene DOID:630 genetic disease ISO RGD:1605272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12299462 ADAL adenosine deaminase like gene DOID:9256 colorectal cancer ISO RGD:1605272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12299490 MIR505 microRNA mir-505 gene DOID:10652 Alzheimer's disease ISO RGD:1603433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25992776 12299490 MIR505 microRNA mir-505 gene DOID:12849 autistic disorder ISO RGD:1603433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12299490 MIR505 microRNA mir-505 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1603433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12299490 MIR505 microRNA mir-505 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12299564 RFX3 regulatory factor X3 gene DOID:0050545 visceral heterotaxy ISO RGD:1317169 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 12299564 RFX3 regulatory factor X3 gene DOID:0060041 autism spectrum disorder ISO RGD:1317168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12299564 RFX3 regulatory factor X3 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1317168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12299564 RFX3 regulatory factor X3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1317168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:25741868 12299564 RFX3 regulatory factor X3 gene DOID:37 skin disease ISO RGD:1317168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12299564 RFX3 regulatory factor X3 gene DOID:630 genetic disease ISO RGD:1317168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12299564 RFX3 regulatory factor X3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12299564 RFX3 regulatory factor X3 gene DOID:9007964 Arsenic Poisoning ISO RGD:1317168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12299564 RFX3 regulatory factor X3 gene DOID:9008582 Developmental Disease ISO RGD:1317168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12299622 MRPS25 mitochondrial ribosomal protein S25 gene DOID:0060417 3p deletion syndrome ISO RGD:1318737 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12299622 MRPS25 mitochondrial ribosomal protein S25 gene DOID:0112111 combined oxidative phosphorylation deficiency 50 ISO RGD:1318737 D RGD:7240710 20200930 OMIM 12299622 MRPS25 mitochondrial ribosomal protein S25 gene DOID:0112111 combined oxidative phosphorylation deficiency 50 ISO RGD:1318737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 50 PMID:31039582 12299622 MRPS25 mitochondrial ribosomal protein S25 gene DOID:630 genetic disease ISO RGD:1318737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12299630 ATP7B ATPase copper transporting beta gene DOID:0050952 spastic ataxia ISO RGD:731392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:10441329|PMID:10544227|PMID:16283883|PMID:17317524|PMID:17949296|PMID:23518715|PMID:25741868|PMID:27398169|PMID:28492532|PMID:7626145 12299630 ATP7B ATPase copper transporting beta gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:731392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12299630 ATP7B ATPase copper transporting beta gene DOID:0080567 congenital disorder of glycosylation Ip ISO RGD:731392 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P PMID:10441329|PMID:16283883|PMID:25741868|PMID:28492532|PMID:30676690 12299630 ATP7B ATPase copper transporting beta gene DOID:0111428 essential tremor 1 ISO RGD:731392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hand tremor PMID:25741868 12299630 ATP7B ATPase copper transporting beta gene DOID:1059 intellectual disability ISO RGD:731392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12299630 ATP7B ATPase copper transporting beta gene DOID:2237 hepatitis ISO RGD:2180 D RGD:9068941 20201211 RGD PMID:3392951|PMID:3429843|REF_RGD_ID:1302497|REF_RGD_ID:25823153 12299630 ATP7B ATPase copper transporting beta gene DOID:2237 hepatitis ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14574444|PMID:15135151 12299630 ATP7B ATPase copper transporting beta gene DOID:2697 renal adenoma ISO RGD:2180 D RGD:9068941 20201218 RGD PMID:11509115|REF_RGD_ID:1302456 12299630 ATP7B ATPase copper transporting beta gene DOID:305 carcinoma ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11802810|PMID:12216079 12299630 ATP7B ATPase copper transporting beta gene DOID:3459 breast carcinoma severity ISO RGD:731392 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:breast PMID:11802810|REF_RGD_ID:2292670 12299630 ATP7B ATPase copper transporting beta gene DOID:409 liver disease ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364284 12299630 ATP7B ATPase copper transporting beta gene DOID:5082 liver cirrhosis ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25134866 12299630 ATP7B ATPase copper transporting beta gene DOID:5212 congenital disorder of glycosylation ISO RGD:731392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 12299630 ATP7B ATPase copper transporting beta gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12509969 12299630 ATP7B ATPase copper transporting beta gene DOID:630 genetic disease ISO RGD:731392 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10051024|PMID:10406672|PMID:10441329|PMID:10447265|PMID:10453196|PMID:10502776|PMID:10502777|PMID:10544227|PMID:10721669|PMID:10790207|PMID:10942420|PMID:11021476|PMID:11093740|PMID:11175281|PMID:11216666|PMID:11243728|PMID:11405812|PMID:11472373|PMID:11479773|PMID:11690702|PMID:11857545|PMID:12544487|PMID:12557139|PMID:12812649|PMID:12885331|PMID:12955875|PMID:14962673|PMID:14966923|PMID:14986826|PMID:15024742|PMID:15202786|PMID:15205462|PMID:15337266|PMID:15523622|PMID:15723329|PMID:15845031|PMID:15952988|PMID:15967699|PMID:15994426|PMID:16088907|PMID:16133174|PMID:16175588|PMID:16199547|PMID:16207219|PMID:16233999|PMID:16283883|PMID:16472602|PMID:16545904|PMID:16603785|PMID:16649058|PMID:16696937|PMID:16791614|PMID:16922724|PMID:16939419|PMID:16998622|PMID:17154398|PMID:17160357|PMID:17264425|PMID:17272994|PMID:17300695|PMID:17317524|PMID:17433323|PMID:17576681|PMID:17587212|PMID:17634212|PMID:17680703|PMID:17717039|PMID:17823867|PMID:17897870|PMID:17919502|PMID:17949296|PMID:18034201|PMID:18203200|PMID:18311837|PMID:18371106|PMID:18373411|PMID:18414213|PMID:18483695|PMID:18652531|PMID:18692069|PMID:18855987|PMID:19033537|PMID:19062534|PMID:19118915|PMID:19306278|PMID:19371217|PMID:19419418|PMID:19783880|PMID:19937698|PMID:20045993|PMID:20082719|PMID:20301685|PMID:20333758|PMID:20437613|PMID:20453399|PMID:20465995|PMID:20485189|PMID:20491539|PMID:20517649|PMID:20931554|PMID:20958917|PMID:20967755|PMID:21034864|PMID:21219664|PMID:21350584|PMID:21398519|PMID:21454443|PMID:21610751|PMID:21682854|PMID:21794208|PMID:21796144|PMID:21832955|PMID:22106832|PMID:22221592|PMID:22240481|PMID:22286624|PMID:22308153|PMID:22484412|PMID:22677543|PMID:22692182|PMID:22720308|PMID:22730635|PMID:22735241|PMID:22774841|PMID:22820477|PMID:22898812|PMID:22940187|PMID:23158531|PMID:23159873|PMID:23219664|PMID:23235335|PMID:23333878|PMID:2333878|PMID:23389864|PMID:23430806|PMID:23430908|PMID:23518715|PMID:23525077|PMID:23551039|PMID:23556051|PMID:23567103|PMID:23774950|PMID:23843956|PMID:23962630|PMID:23982005|PMID:24010089|PMID:24023303|PMID:24033266|PMID:24094725|PMID:24146181|PMID:24253677|PMID:24517292|PMID:24661374|PMID:24706876|PMID:24878384|PMID:24897373|PMID:24909901|PMID:25086856|PMID:25089800|PMID:25130000|PMID:25333069|PMID:25390358|PMID:25497208|PMID:25525159|PMID:25617204|PMID:25637381|PMID:25678388|PMID:25704634|PMID:25741868|PMID:25825851|PMID:25982861|PMID:25988284|PMID:26004889|PMID:26032686|PMID:2610069|PMID:26206375|PMID:26253413|PMID:26269689|PMID:26275891|PMID:26286547|PMID:26483271|PMID:26580967|PMID:26764160|PMID:26799313|PMID:26819605|PMID:26829729|PMID:27022412|PMID:27398169|PMID:27528516|PMID:27638368|PMID:27706781|PMID:27935710|PMID:27982432|PMID:28119449|PMID:28212618|PMID:28271598|PMID:28492532|PMID:28515472|PMID:28554332|PMID:28564725|PMID:28602929|PMID:28717664|PMID:28776642|PMID:29063292|PMID:29181760|PMID:29431110|PMID:29473088|PMID:29674751|PMID:29790872|PMID:29907136|PMID:29930488|PMID:29961769|PMID:29979436|PMID:30097039|PMID:30120852|PMID:30212743|PMID:30230192|PMID:30232804|PMID:30254379|PMID:30275481|PMID:30366773|PMID:30384382|PMID:30556376|PMID:30558096|PMID:30609409|PMID:30655162|PMID:30702195|PMID:30723317|PMID:30842500|PMID:30884209|PMID:31010795|PMID:31059521|PMID:31169307|PMID:31408533|PMID:31449670|PMID:31474638|PMID:31589614|PMID:31598802|PMID:31620489|PMID:31637888|PMID:31664448|PMID:31708252|PMID:31738409|PMID:31743419|PMID:31751128|PMID:31783295|PMID:31804371|PMID:31980526|PMID:32043565|PMID:32118851|PMID:32154060|PMID:32248359|PMID:32270360|PMID:32284880|PMID:32291276|PMID:32532207|PMID:32685348|PMID:32770663|PMID:32778786|PMID:32794656|PMID:32911910|PMID:33098801|PMID:33100332|PMID:33159804|PMID:33223529|PMID:33258288|PMID:33640437|PMID:33668890|PMID:33763395|PMID:34400371|PMID:34426522|PMID:34470610|PMID:7626145|PMID:8298641|PMID:8533760|PMID:8782057|PMID:893844|PMID:8938442|PMID:9199563|PMID:9214248|PMID:9311736|PMID:9352458|PMID:9452121|PMID:9482578|PMID:9504786|PMID:9536098|PMID:9554743 12299630 ATP7B ATPase copper transporting beta gene DOID:630 genetic disease ISO RGD:731392 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:9654149|PMID:9671269|PMID:9724794|PMID:9801873|PMID:9829905|PMID:9837819|PMID:9887381 12299630 ATP7B ATPase copper transporting beta gene DOID:684 hepatocellular carcinoma onset ISO RGD:2180 D RGD:9068941 20201211 RGD PMID:8291609|REF_RGD_ID:15036817 12299630 ATP7B ATPase copper transporting beta gene DOID:686 liver carcinoma ISO RGD:2180 D RGD:9068941 20201218 RGD PMID:11509115|REF_RGD_ID:1302456 12299630 ATP7B ATPase copper transporting beta gene DOID:893 Wilson disease IAGP D RGD:12801476 20210603 OMIA Wilson disease 12299630 ATP7B ATPase copper transporting beta gene DOID:893 Wilson disease ISO RGD:731392 D RGD:7240710 20180130 OMIM 12299630 ATP7B ATPase copper transporting beta gene DOID:893 Wilson disease ISO RGD:731392 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10051024|PMID:10070620|PMID:10194254|PMID:10406672|PMID:10441329|PMID:10447265|PMID:10453196|PMID:10502776|PMID:10502777|PMID:10544227|PMID:10557326|PMID:10721669|PMID:10790207|PMID:10942420|PMID:10980554|PMID:10981891|PMID:10994503|PMID:11021476|PMID:11043508|PMID:11060541|PMID:11093740|PMID:11175281|PMID:11180609|PMID:11216666|PMID:11243728|PMID:11405812|PMID:11472373|PMID:11479773|PMID:11690702|PMID:11721763|PMID:11775208|PMID:11857545|PMID:11954751|PMID:12032531|PMID:12202071|PMID:12325021|PMID:12376745|PMID:12515040|PMID:12544487|PMID:12557139|PMID:12756138|PMID:12812649|PMID:12885331|PMID:12955875|PMID:14616767|PMID:14639035|PMID:14748773|PMID:14761325|PMID:14962673|PMID:14966923|PMID:14974157|PMID:14986826|PMID:15024742|PMID:15147237|PMID:15202786|PMID:15205462|PMID:15205742|PMID:15337266|PMID:15523622|PMID:15524314|PMID:15557537|PMID:15571607|PMID:15723329|PMID:15811015|PMID:15845031|PMID:15952988|PMID:15967699|PMID:15994426|PMID:16088907|PMID:16133174|PMID:16175588|PMID:16199547|PMID:16207219|PMID:16233999|PMID:16234011|PMID:16283883|PMID:16416207|PMID:16423615|PMID:16472602|PMID:16495228|PMID:16510432|PMID:16545904|PMID:16567646|PMID:16603785|PMID:16644258|PMID:16649058|PMID:16684691|PMID:16696937|PMID:16791614|PMID:16868807|PMID:16922724|PMID:16939419|PMID:16998287|PMID:16998622|PMID:17154398|PMID:17160357|PMID:17264425|PMID:17272994|PMID:17300695|PMID:17317524|PMID:17325640|PMID:17410460|PMID:17433323|PMID:17576681|PMID:17587212|PMID:17629589|PMID:17634212|PMID:17680703|PMID:17717039|PMID:17718866|PMID:17823867|PMID:17876883|PMID:17897870|PMID:17919502|PMID:17949296|PMID:18034201|PMID:18156766|PMID:18203200|PMID:18286826|PMID:18311837|PMID:18371106|PMID:18373411|PMID:18403153|PMID:18414213|PMID:18416466|PMID:18424137|PMID:18483695|PMID:18556333|PMID:18652531|PMID:18692069|PMID:18698682|PMID:18728530|PMID:18760268|PMID:18841562|PMID:18841564|PMID:18855987|PMID:19033537|PMID:19062534|PMID:19118915|PMID:19172127|PMID:19306278|PMID:19371217|PMID:19381668|PMID:19419418|PMID:19449859|PMID:19484379|PMID:19514071|PMID:19540904|PMID:19596473|PMID:19700008|PMID:19725132|PMID:19783880|PMID:19937698|PMID:20045993|PMID:20082719|PMID:20301685|PMID:20333758|PMID:20421574|PMID:20437613|PMID:20453399|PMID:20465995|PMID:20485189|PMID:20491539|PMID:20517649|PMID:20931554|PMID:20958917|PMID:20967755|PMID:21034864|PMID:21219664|PMID:21334398|PMID:21350584|PMID:21398519|PMID:21454443|PMID:21610751|PMID:21645214|PMID:21682854|PMID:21707886|PMID:21794208|PMID:21796144|PMID:21832955|PMID:21925265|PMID:21956287|PMID:21982967|PMID:22019423|PMID:22046264|PMID:22087377|PMID:22093921|PMID:22106832|PMID:22170460|PMID:22221592|PMID:22240481|PMID:22286624|PMID:22308153|PMID:22484412|PMID:22494076|PMID:22677543|PMID:22687675|PMID:22692182|PMID:22720273|PMID:22720308|PMID:22730635|PMID:22735241|PMID:22745856|PMID:22763723|PMID:22774841|PMID:22820477|PMID:22898812|PMID:22940187|PMID:22955616|PMID:23158531|PMID:23159873|PMID:23219664|PMID:23235335|PMID:23275100|PMID:23333878|PMID:2333878|PMID:23382538|PMID:23389864|PMID:23430806|PMID:23430908|PMID:23486543|PMID:23518715|PMID:23525077|PMID:23551039|PMID:23556051|PMID:23567103|PMID:23607698|PMID:23774950|PMID:23789284|PMID:23843956|PMID:23885147|PMID:23962630|PMID:23982005|PMID:24003324|PMID:24010089|PMID:24023303|PMID:24033266|PMID:2409472|PMID:24094725|PMID:24118554|PMID:24119323|PMID:24146181|PMID:24253677|PMID:24475083|PMID:24476933|PMID:24517292|PMID:24555712|PMID:24661374|PMID:24668339|PMID:24706876|PMID:24718822|PMID:24720933|PMID:24794161|PMID:24798599|PMID:24878384|PMID:24897373|PMID:24909901|PMID:24932333|PMID:25014046|PMID:25046119|PMID:25086856|PMID:25089800|PMID:25130000|PMID:25199035|PMID:25327413|PMID:25333069|PMID:25376582|PMID:25390358|PMID:25465132|PMID:25497208|PMID:25516681|PMID:25525159|PMID:25617204|PMID:25637381|PMID:25678388|PMID:25704483|PMID:25704634|PMID:25741868|PMID:25825851|PMID:25982861|PMID:25988284|PMID:26004889|PMID:26031236|PMID:26032686|PMID:2610069|PMID:26206375 12299630 ATP7B ATPase copper transporting beta gene DOID:893 Wilson disease ISO RGD:731392 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:26207595|PMID:26215059|PMID:26253413|PMID:26269689|PMID:26275891|PMID:26286547|PMID:26466587|PMID:26483271|PMID:26580967|PMID:26650869|PMID:26660341|PMID:26752957|PMID:26764160|PMID:26782526|PMID:2679931|PMID:26799313|PMID:26807378|PMID:26819605|PMID:26829729|PMID:27022412|PMID:27122662|PMID:27398169|PMID:27437191|PMID:27499926|PMID:27528516|PMID:27535533|PMID:27638368|PMID:27706781|PMID:27930511|PMID:27935710|PMID:27941192|PMID:27982432|PMID:27992490|PMID:28119449|PMID:28212618|PMID:28265897|PMID:28271598|PMID:28392828|PMID:28433102|PMID:28443131|PMID:28492532|PMID:28507923|PMID:28515472|PMID:28554332|PMID:28564725|PMID:28602929|PMID:28717664|PMID:28776642|PMID:29063292|PMID:29085216|PMID:29181760|PMID:29321352|PMID:29356957|PMID:29381936|PMID:29418065|PMID:29431110|PMID:29473088|PMID:29482223|PMID:29540233|PMID:29637721|PMID:29649982|PMID:29674751|PMID:29761093|PMID:29790872|PMID:29907136|PMID:29914392|PMID:29915382|PMID:29930488|PMID:29961769|PMID:29979436|PMID:30087448|PMID:30097039|PMID:30120852|PMID:30212743|PMID:30230192|PMID:30232804|PMID:30254379|PMID:30275481|PMID:30366773|PMID:30384382|PMID:30426382|PMID:30556376|PMID:30558096|PMID:30609409|PMID:30655162|PMID:30676690|PMID:30702195|PMID:30723317|PMID:30842500|PMID:30884209|PMID:30980273|PMID:31000363|PMID:31010795|PMID:31059521|PMID:31169307|PMID:31172689|PMID:31286540|PMID:31408533|PMID:31449670|PMID:31474638|PMID:31589614|PMID:31598802|PMID:31620489|PMID:31637888|PMID:31664448|PMID:31708252|PMID:31738409|PMID:31743419|PMID:31751128|PMID:31783295|PMID:31804371|PMID:31942415|PMID:31980526|PMID:32043565|PMID:32067425|PMID:32118851|PMID:32154060|PMID:32248359|PMID:32270360|PMID:32284880|PMID:32291276|PMID:32532207|PMID:32539308|PMID:32613181|PMID:32618023|PMID:32685348|PMID:32770663|PMID:32778786|PMID:32794656|PMID:32901917|PMID:32911910|PMID:33098801|PMID:33100332|PMID:33159804|PMID:33223529|PMID:33258288|PMID:33260258|PMID:33265091|PMID:33640437|PMID:33668890|PMID:33719328|PMID:33763395|PMID:33948933|PMID:34002136|PMID:34091542|PMID:34131283|PMID:34240825|PMID:34324271|PMID:34381801|PMID:34400371|PMID:34426522|PMID:34470610|PMID:34539730|PMID:34773664|PMID:35079019|PMID:35193651|PMID:35864215|PMID:7626145|PMID:7726170|PMID:7833924|PMID:8203200|PMID:8298639|PMID:8298640|PMID:8298641|PMID:8526905|PMID:8533760|PMID:8782057|PMID:8931691|PMID:893844|PMID:8938442|PMID:8980283|PMID:9199563|PMID:9214248|PMID:9222767|PMID:9311736|PMID:9352458|PMID:9407345|PMID:9452121|PMID:9482578|PMID:9504786|PMID:9536098|PMID:9554743|PMID:9654149|PMID:9671269|PMID:9724794|PMID:9801873|PMID:9829905|PMID:9837819|PMID:9887381 12299630 ATP7B ATPase copper transporting beta gene DOID:893 Wilson disease treatment ISO RGD:731392 D RGD:9068941 20200609 RGD PMID:15511628|PMID:16803697|REF_RGD_ID:1554300|REF_RGD_ID:25671604 12299630 ATP7B ATPase copper transporting beta gene DOID:9000918 Disease Progression ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12216079|PMID:12509969|PMID:19296535 12299630 ATP7B ATPase copper transporting beta gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23792645 12299630 ATP7B ATPase copper transporting beta gene DOID:9001793 Generalized Epilepsy ISO RGD:731392 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:10447265|PMID:10790207|PMID:11243728|PMID:12885331|PMID:15811015|PMID:16207219|PMID:16684691|PMID:16791614|PMID:18414213|PMID:20517649|PMID:21610751|PMID:22484412|PMID:22677543|PMID:22692182|PMID:23518715|PMID:23551039|PMID:23789284|PMID:24517292|PMID:25390358|PMID:25741868|PMID:25825851|PMID:26764160|PMID:2679931|PMID:26799313|PMID:28492532|PMID:30097039|PMID:30232804|PMID:32043565|PMID:32118851|PMID:32154060|PMID:32248359|PMID:33640437|PMID:9671269 12299630 ATP7B ATPase copper transporting beta gene DOID:9002265 Kidney Neoplasms ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11509115 12299630 ATP7B ATPase copper transporting beta gene DOID:9002304 Prostatic Neoplasms ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25320179 12299630 ATP7B ATPase copper transporting beta gene DOID:9002762 Ovarian Neoplasms ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12216079 12299630 ATP7B ATPase copper transporting beta gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:731392 D RGD:9068941 20200609 RGD PMID:12216079|REF_RGD_ID:2298865 12299630 ATP7B ATPase copper transporting beta gene DOID:9003370 Dyslipidemias ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303181 12299630 ATP7B ATPase copper transporting beta gene DOID:9004265 Endometrioid Carcinomas disease_progression ISO RGD:731392 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:15790435|REF_RGD_ID:2298864 12299630 ATP7B ATPase copper transporting beta gene DOID:9004590 Acute Liver Failure ISO RGD:2180 D RGD:9068941 20201211 RGD PMID:8291609|REF_RGD_ID:15036817 12299630 ATP7B ATPase copper transporting beta gene DOID:9004590 Acute Liver Failure ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25134866 12299630 ATP7B ATPase copper transporting beta gene DOID:9005372 Inflammation ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22945834 12299630 ATP7B ATPase copper transporting beta gene DOID:9006205 Animal Disease Models ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11803042|PMID:15911138|PMID:21146535|PMID:21364284 12299630 ATP7B ATPase copper transporting beta gene DOID:9006435 Mental Retardation Wolff Type ISO RGD:731392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff Zimmermann syndrome PMID:10441329|PMID:16133174|PMID:16283883|PMID:17264425|PMID:21034864|PMID:21645214|PMID:23518715|PMID:23551039|PMID:24094725|PMID:25525159|PMID:25741868|PMID:28492532|PMID:30426382|PMID:31059521|PMID:9887381 12299630 ATP7B ATPase copper transporting beta gene DOID:9007188 Liver Neoplasms ISO RGD:2180 D RGD:9068941 20201218 RGD PMID:11509115|REF_RGD_ID:1302456 12299630 ATP7B ATPase copper transporting beta gene DOID:9007188 Liver Neoplasms ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11509115 12299630 ATP7B ATPase copper transporting beta gene DOID:9007188 Liver Neoplasms onset ISO RGD:2180 D RGD:9068941 20210219 RGD compared to LEC/Tj; PMID:11509115|REF_RGD_ID:1302456 12299630 ATP7B ATPase copper transporting beta gene DOID:9007364 Mouth Neoplasms ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12509969 12299630 ATP7B ATPase copper transporting beta gene DOID:9008443 Colorectal Neoplasms ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19296535 12299630 ATP7B ATPase copper transporting beta gene DOID:9008939 Breast Neoplasms ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11802810 12299630 ATP7B ATPase copper transporting beta gene DOID:9452 fatty liver disease ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303181 12299678 CTNNB1 catenin beta 1 gene DOID:0001816 angiosarcoma ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:13678655 12299678 CTNNB1 catenin beta 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 12299678 CTNNB1 catenin beta 1 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1550466 D RGD:9068941 20230511 MouseDO 12299678 CTNNB1 catenin beta 1 gene DOID:0050746 mantle cell lymphoma ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18787224 12299678 CTNNB1 catenin beta 1 gene DOID:0050770 polycystic liver disease ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:28492532 12299678 CTNNB1 catenin beta 1 gene DOID:0050868 hepatocellular adenoma ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147764 12299678 CTNNB1 catenin beta 1 gene DOID:0050902 medulloblastoma ISO RGD:733705 D RGD:7240710 20190315 OMIM 12299678 CTNNB1 catenin beta 1 gene DOID:0050902 medulloblastoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:10027390|PMID:10192393|PMID:10391090|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:23033978|PMID:23265383|PMID:24614104|PMID:25157968|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26619011|PMID:26822237|PMID:27959697|PMID:28492532|PMID:28575650|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9927029 12299678 CTNNB1 catenin beta 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1550466 D RGD:9068941 20220825 MouseDO 12299678 CTNNB1 catenin beta 1 gene DOID:0070049 autosomal dominant intellectual developmental disorder 19 ISO RGD:733705 D RGD:7240710 20180130 OMIM 12299678 CTNNB1 catenin beta 1 gene DOID:0070049 autosomal dominant intellectual developmental disorder 19 ISO RGD:733705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CTNNB1-related syndromic intellectual disability | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS PMID:10966653|PMID:18414213|PMID:23033978|PMID:24033266|PMID:24614104|PMID:24668549|PMID:25326635|PMID:25326637|PMID:25326669|PMID:25741868|PMID:2614104|PMID:26350204|PMID:26502894|PMID:27848944|PMID:27915094|PMID:27959697|PMID:28191889|PMID:28330790|PMID:28333917|PMID:28492532|PMID:28514307|PMID:28575650|PMID:28856709|PMID:32369273|PMID:33004838|PMID:33350591|PMID:33475177|PMID:35099645 12299678 CTNNB1 catenin beta 1 gene DOID:0080264 exudative vitreoretinopathy 7 ISO RGD:733705 D RGD:7240710 20190315 OMIM 12299678 CTNNB1 catenin beta 1 gene DOID:0080264 exudative vitreoretinopathy 7 ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EXUDATIVE VITREORETINOPATHY 7 | ClinVar Annotator: match by term: Exudative vitreoretinopathy 7 PMID:23033978|PMID:24614104|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:27959697|PMID:28492532|PMID:28575650 12299678 CTNNB1 catenin beta 1 gene DOID:0080502 GM1 gangliosidosis type 1 ISO RGD:733705 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gangliosidosis, generalized GM1, infantile form PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:28191889|PMID:28492532|PMID:28575650|PMID:33004838 12299678 CTNNB1 catenin beta 1 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 12299678 CTNNB1 catenin beta 1 gene DOID:0111349 hereditary desmoid disease ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation PMID:10398436|PMID:10435629|PMID:10655994|PMID:26619011|PMID:26822237|PMID:9500465|PMID:9927029 12299678 CTNNB1 catenin beta 1 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant PMID:28492532|PMID:28575650 12299678 CTNNB1 catenin beta 1 gene DOID:0111535 progressive osseous heteroplasia ISO RGD:733705 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 12299678 CTNNB1 catenin beta 1 gene DOID:10283 prostate cancer ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:25157968|PMID:26619011|PMID:9927029 12299678 CTNNB1 catenin beta 1 gene DOID:10488 imperforate anus ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imperforate anus PMID:25741868 12299678 CTNNB1 catenin beta 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:733705 D RGD:9068941 20220421 RGD mRNA:altered expression:stomach, tumor (human) PMID:29069277|REF_RGD_ID:151893464 12299678 CTNNB1 catenin beta 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:733705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:25741868 12299678 CTNNB1 catenin beta 1 gene DOID:1059 intellectual disability ISO RGD:733705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650 12299678 CTNNB1 catenin beta 1 gene DOID:10652 Alzheimer's disease ISO RGD:1550466 D RGD:9068941 20200609 RGD protein:decreased expression:nucleus: PMID:11226152|REF_RGD_ID:1302533 12299678 CTNNB1 catenin beta 1 gene DOID:10652 Alzheimer's disease ISO RGD:733705 D RGD:9068941 20200609 RGD protein:increased expression:neuron,cytoplasm: PMID:15781969|REF_RGD_ID:10395258 12299678 CTNNB1 catenin beta 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:70487 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:12610652|REF_RGD_ID:10395276 12299678 CTNNB1 catenin beta 1 gene DOID:11054 urinary bladder cancer ISO RGD:1550466 D RGD:9068941 20220825 MouseDO OMIM:109800 12299678 CTNNB1 catenin beta 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:733705 D RGD:9068941 20200609 RGD PMID:17175927|REF_RGD_ID:2289829 12299678 CTNNB1 catenin beta 1 gene DOID:1107 esophageal carcinoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:10027390|PMID:10192393|PMID:10391090|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210 12299678 CTNNB1 catenin beta 1 gene DOID:11984 hypertrophic cardiomyopathy treatment ISO RGD:1550466 D RGD:9068941 20200609 RGD protein:increased phosphorylation:myocyte: PMID:14993121|REF_RGD_ID:1598718 12299678 CTNNB1 catenin beta 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1550466 D RGD:9068941 20200609 RGD PMID:20376467|REF_RGD_ID:13524857 12299678 CTNNB1 catenin beta 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12299678 CTNNB1 catenin beta 1 gene DOID:1324 lung cancer ISO RGD:733705 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:10027390|PMID:10192393|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:25157968|PMID:26619011|PMID:9065403 12299678 CTNNB1 catenin beta 1 gene DOID:1324 lung cancer treatment ISO RGD:733705 D RGD:9068941 20211210 RGD human cells in mouse model PMID:32051824|REF_RGD_ID:150530284 12299678 CTNNB1 catenin beta 1 gene DOID:14566 disease of cellular proliferation ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:25157968 12299678 CTNNB1 catenin beta 1 gene DOID:1520 colon carcinoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma PMID:10192393|PMID:23033978|PMID:24614104|PMID:25157968|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26619011|PMID:26822237|PMID:27959697|PMID:28492532|PMID:28575650|PMID:9065402|PMID:9294210 12299678 CTNNB1 catenin beta 1 gene DOID:1790 malignant mesothelioma ISO RGD:733705 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 12299678 CTNNB1 catenin beta 1 gene DOID:1793 pancreatic cancer ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18223216 12299678 CTNNB1 catenin beta 1 gene DOID:182 calcinosis ISO RGD:733705 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 12299678 CTNNB1 catenin beta 1 gene DOID:1909 melanoma ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10027390|PMID:10192393|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:23265383|PMID:24788118|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 12299678 CTNNB1 catenin beta 1 gene DOID:1911 endodermal sinus tumor ISO RGD:733705 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:tumor:high expression in 100%, increased nuclear accumulation in 50-70% of tumors PMID:16822086|REF_RGD_ID:2298800 12299678 CTNNB1 catenin beta 1 gene DOID:1936 atherosclerosis ameliorates ISO RGD:1550466 D RGD:9068941 20230330 RGD PMID:35854140|REF_RGD_ID:242905195 12299678 CTNNB1 catenin beta 1 gene DOID:2043 hepatitis B ISO RGD:733705 D RGD:9068941 20210910 RGD associated with hepatocellular carcinoma;protein:increased expression:liver (human) PMID:25536643|REF_RGD_ID:150429591 12299678 CTNNB1 catenin beta 1 gene DOID:2154 nephroblastoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephroblastoma PMID:10027390|PMID:10435629|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:24788118|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403 12299678 CTNNB1 catenin beta 1 gene DOID:234 colon adenocarcinoma ISO RGD:70487 D RGD:9068941 20200609 RGD DNA:mutation PMID:16886601|REF_RGD_ID:1599637 12299678 CTNNB1 catenin beta 1 gene DOID:2394 ovarian cancer ISO RGD:733705 D RGD:7240710 20190213 OMIM 12299678 CTNNB1 catenin beta 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:10027390|PMID:10192393|PMID:10391090|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:24788118|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 12299678 CTNNB1 catenin beta 1 gene DOID:2671 transitional cell carcinoma ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:10027390|PMID:10192393|PMID:10391090|PMID:10435629|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:24788118|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9927029 12299678 CTNNB1 catenin beta 1 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:733705 D RGD:9068941 20200609 RGD PMID:16426728|PMID:17363521|REF_RGD_ID:2289818|REF_RGD_ID:2298486 12299678 CTNNB1 catenin beta 1 gene DOID:289 endometriosis ISO RGD:733705 D RGD:9068941 20210910 RGD protein:increased expression:endometrium, epithelium, stroma (human) PMID:29462326|REF_RGD_ID:150429593 12299678 CTNNB1 catenin beta 1 gene DOID:299 adenocarcinoma ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10965019|PMID:14507667|PMID:15459021 12299678 CTNNB1 catenin beta 1 gene DOID:2999 granulosa cell tumor ISO RGD:1550466 D RGD:9068941 20200609 RGD PMID:16488995|REF_RGD_ID:1643593 12299678 CTNNB1 catenin beta 1 gene DOID:2999 granulosa cell tumor ISO RGD:1550466 D RGD:9068941 20220825 MouseDO 12299678 CTNNB1 catenin beta 1 gene DOID:3121 gallbladder cancer ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gallbladder cancer PMID:10027390|PMID:10435629|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:24788118|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9065403 12299678 CTNNB1 catenin beta 1 gene DOID:3307 teratoma ISO RGD:733705 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:tumor:high expression in 100%, increased nuclear accumulation in 50-70% of tumors PMID:16822086|REF_RGD_ID:2298800 12299678 CTNNB1 catenin beta 1 gene DOID:3322 GM1 gangliosidosis ISO RGD:733705 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GLB1 deficiency PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:28191889|PMID:28492532|PMID:28575650|PMID:33004838 12299678 CTNNB1 catenin beta 1 gene DOID:3457 invasive lobular carcinoma ISO RGD:733705 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:17721269|REF_RGD_ID:2289814 12299678 CTNNB1 catenin beta 1 gene DOID:363 uterine cancer ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:10027390|PMID:10192393|PMID:10391090|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:23265383|PMID:24788118|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 12299678 CTNNB1 catenin beta 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:10027390|PMID:10192393|PMID:10391090|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:23265383|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9927029 12299678 CTNNB1 catenin beta 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Esophageal squamous cell carcinoma PMID:25157968|PMID:25741868|PMID:26619011 12299678 CTNNB1 catenin beta 1 gene DOID:3840 craniopharyngioma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniopharyngioma PMID:10192393|PMID:23265383|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9927029 12299678 CTNNB1 catenin beta 1 gene DOID:3905 lung carcinoma disease_progression ISO RGD:70487 D RGD:9068941 20200609 RGD DNA, protein:mutations, increased expression:cytoplasm, nucleus:multiple PMID:17639448|REF_RGD_ID:2289843 12299678 CTNNB1 catenin beta 1 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:733705 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:27498289|REF_RGD_ID:13434929 12299678 CTNNB1 catenin beta 1 gene DOID:3910 lung adenocarcinoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10027390|PMID:10192393|PMID:10391090|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:23265383|PMID:24788118|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 12299678 CTNNB1 catenin beta 1 gene DOID:3948 adrenocortical carcinoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma | ClinVar Annotator: match by term: Adrenocortical carcinoma PMID:10027390|PMID:10192393|PMID:10398436|PMID:10435629|PMID:10655994|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:23265383|PMID:24788118|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9065403|PMID:9500465|PMID:9927029 12299678 CTNNB1 catenin beta 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:733705 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid PMID:28677753|REF_RGD_ID:13792605 12299678 CTNNB1 catenin beta 1 gene DOID:3969 thyroid gland papillary carcinoma disease_progression ISO RGD:733705 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid PMID:29498921|REF_RGD_ID:13792558 12299678 CTNNB1 catenin beta 1 gene DOID:4 disease ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disease PMID:10027390|PMID:10435629|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:24788118|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9065403 12299678 CTNNB1 catenin beta 1 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:10192393|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9294210|PMID:9500465|PMID:9927029 12299678 CTNNB1 catenin beta 1 gene DOID:4450 renal cell carcinoma ISO RGD:733705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:26822237 12299678 CTNNB1 catenin beta 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:733705 D RGD:9068941 20200609 RGD PMID:15330191|REF_RGD_ID:2289794 12299678 CTNNB1 catenin beta 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:733705 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:11831984|REF_RGD_ID:2289835 12299678 CTNNB1 catenin beta 1 gene DOID:5015 fibrolamellar carcinoma ISO RGD:733705 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:exon: PMID:19101982|REF_RGD_ID:14402052 12299678 CTNNB1 catenin beta 1 gene DOID:5082 liver cirrhosis ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21047994 12299678 CTNNB1 catenin beta 1 gene DOID:5374 pilomatrixoma ISO RGD:733705 D RGD:7240710 20180130 OMIM 12299678 CTNNB1 catenin beta 1 gene DOID:5374 pilomatrixoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Calcifying epithelioma of Malherbe | ClinVar Annotator: match by term: Pilomatrixoma PMID:10027390|PMID:10192393|PMID:10391090|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:23033978|PMID:24614104|PMID:25157968|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26619011|PMID:26822237|PMID:27959697|PMID:28492532|PMID:28575650|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9927029 12299678 CTNNB1 catenin beta 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:10192393|PMID:23265383|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9927029 12299678 CTNNB1 catenin beta 1 gene DOID:630 genetic disease ISO RGD:733705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21903672|PMID:23033978|PMID:24614104|PMID:24728327|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26502894|PMID:27915094|PMID:27959697|PMID:28191889|PMID:28330790|PMID:28492532|PMID:28575650|PMID:28856709|PMID:30640974|PMID:33004838|PMID:33350591 12299678 CTNNB1 catenin beta 1 gene DOID:657 adenoma ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10223192|PMID:10965019 12299678 CTNNB1 catenin beta 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733705 D RGD:7240710 20180130 OMIM 12299678 CTNNB1 catenin beta 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA PMID:10027390|PMID:10192393|PMID:10391090|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:21903672|PMID:23033978|PMID:23265383|PMID:24614104|PMID:24728327|PMID:24788118|PMID:25157968|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26502894|PMID:26619011|PMID:26822237|PMID:27915094|PMID:27959697|PMID:28492532|PMID:28575650|PMID:29682453|PMID:30640974|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 12299678 CTNNB1 catenin beta 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:733705 D RGD:9068941 20210910 RGD DNA:missense mutations:exon 3:multiple (human) PMID:27276713|REF_RGD_ID:150429592 12299678 CTNNB1 catenin beta 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:733705 D RGD:9068941 20200609 RGD DNA:Mutations:exon: PMID:19101982|REF_RGD_ID:14402052 12299678 CTNNB1 catenin beta 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:733705 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic,DNA:SNP, haplotype: :rs3864004 (human) PMID:26968103|REF_RGD_ID:14402039 12299678 CTNNB1 catenin beta 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:733705 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:SNPs: :rs3864004,rs11564475(human) PMID:28328801|REF_RGD_ID:14402040 12299678 CTNNB1 catenin beta 1 gene DOID:687 hepatoblastoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:10192393|PMID:10398436|PMID:10435629|PMID:10655994|PMID:23265383|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9500465|PMID:9927029 12299678 CTNNB1 catenin beta 1 gene DOID:767 muscular atrophy ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18467435 12299678 CTNNB1 catenin beta 1 gene DOID:8719 in situ carcinoma ISO RGD:733705 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:9496256|REF_RGD_ID:2289836 12299678 CTNNB1 catenin beta 1 gene DOID:8923 skin melanoma ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:10027390|PMID:10192393|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:23265383|PMID:24788118|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 12299678 CTNNB1 catenin beta 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:733705 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:decreased expression PMID:17908479|REF_RGD_ID:2289813 12299678 CTNNB1 catenin beta 1 gene DOID:9000156 Metaplasia exacerbates ISO RGD:733705 D RGD:9068941 20210910 RGD associated with Helicobacter Infections;protein:increased expression:body stomach, stomach pyloric antrum, nucleus (human) PMID:19369517|REF_RGD_ID:150429594 12299678 CTNNB1 catenin beta 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:10027390|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:25157968|PMID:26619011|PMID:9065403 12299678 CTNNB1 catenin beta 1 gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747643 12299678 CTNNB1 catenin beta 1 gene DOID:9000784 Fibrosis ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12299678 CTNNB1 catenin beta 1 gene DOID:9000918 Disease Progression ISO RGD:733705 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:27738331|PMID:29106415|PMID:34019859 12299678 CTNNB1 catenin beta 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29106415 12299678 CTNNB1 catenin beta 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733705 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:18008331|REF_RGD_ID:2289488 12299678 CTNNB1 catenin beta 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11280770|PMID:20118494|PMID:21147764 12299678 CTNNB1 catenin beta 1 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12299678 CTNNB1 catenin beta 1 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease PMID:28492532 12299678 CTNNB1 catenin beta 1 gene DOID:9001834 Peritoneal Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 12299678 CTNNB1 catenin beta 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:733705 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35066776 12299678 CTNNB1 catenin beta 1 gene DOID:9002245 Intestinal Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10223192 12299678 CTNNB1 catenin beta 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1550466 D RGD:9068941 20200609 RGD PMID:17638904|REF_RGD_ID:2289815 12299678 CTNNB1 catenin beta 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17363566|PMID:29610475 12299678 CTNNB1 catenin beta 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:70487 D RGD:9068941 20200609 RGD protein:increased expression:cartilage: PMID:22702043|REF_RGD_ID:10395278 12299678 CTNNB1 catenin beta 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:10027390|PMID:10192393|PMID:10391090|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:23033978|PMID:24614104|PMID:25157968|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26619011|PMID:26822237|PMID:27959697|PMID:28492532|PMID:28575650|PMID:9065403 12299678 CTNNB1 catenin beta 1 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:733705 D RGD:9068941 20200609 RGD PMID:15381903|REF_RGD_ID:2298487 12299678 CTNNB1 catenin beta 1 gene DOID:9002801 Recurrence ISO RGD:733705 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:34019859 12299678 CTNNB1 catenin beta 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12628520|PMID:12800193|PMID:14507667|PMID:15459021|PMID:17404573|PMID:18283038|PMID:21081470|PMID:22323126|PMID:9515794 12299678 CTNNB1 catenin beta 1 gene DOID:9002955 Nerve Degeneration ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12387456 12299678 CTNNB1 catenin beta 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:10027390|PMID:10192393|PMID:10391090|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065403|PMID:9927029 12299678 CTNNB1 catenin beta 1 gene DOID:9003694 Cecal Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14688030 12299678 CTNNB1 catenin beta 1 gene DOID:9004240 Phyllodes Tumor ISO RGD:733705 D RGD:9068941 20200609 RGD protein:increased expression:nucleus PMID:12898599|REF_RGD_ID:2289832 12299678 CTNNB1 catenin beta 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:733705 D RGD:9068941 20200609 RGD DNA:mutations PMID:17418409|REF_RGD_ID:2289817 12299678 CTNNB1 catenin beta 1 gene DOID:9004268 Uterine Neoplasms ISO RGD:1550466 D RGD:9068941 20200609 RGD protein:decreased phosphorylation, increased expression:uterus, nucleus PMID:17072826|REF_RGD_ID:2289830 12299678 CTNNB1 catenin beta 1 gene DOID:9004307 Alazami Syndrome ISO RGD:733705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alazami syndrome PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650 12299678 CTNNB1 catenin beta 1 gene DOID:9004331 Parathyroid Neoplasms ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid gland neoplasm PMID:25157968|PMID:26619011|PMID:26822237 12299678 CTNNB1 catenin beta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650 12299678 CTNNB1 catenin beta 1 gene DOID:9004464 Skin Neoplasms ISO RGD:1550466 D RGD:9068941 20200609 RGD protein:increased expression:cytosol: PMID:11517342|REF_RGD_ID:10395257 12299678 CTNNB1 catenin beta 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:733705 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35066776 12299678 CTNNB1 catenin beta 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23707762|PMID:26990689 12299678 CTNNB1 catenin beta 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12299678 CTNNB1 catenin beta 1 gene DOID:9005100 Aberrant Crypt Foci ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10965019|PMID:12351151|PMID:14507667 12299678 CTNNB1 catenin beta 1 gene DOID:9005172 Lung Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18372914 12299678 CTNNB1 catenin beta 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1550466 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.S33Y, p.S45F PMID:18060046|REF_RGD_ID:2289674 12299678 CTNNB1 catenin beta 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1550466 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland PMID:17510243|REF_RGD_ID:2289816 12299678 CTNNB1 catenin beta 1 gene DOID:9005446 Mandibular Neoplasms ISO RGD:70487 D RGD:9068941 20200609 RGD mRNA:increased expression:small intestine PMID:17259108|REF_RGD_ID:1599632 12299678 CTNNB1 catenin beta 1 gene DOID:9005527 No-Reflow Phenomenon ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16824628 12299678 CTNNB1 catenin beta 1 gene DOID:9006205 Animal Disease Models ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12299678 CTNNB1 catenin beta 1 gene DOID:9006332 Vascular Calcification ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23223575 12299678 CTNNB1 catenin beta 1 gene DOID:9006534 Nervous System Malformations ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12299678 CTNNB1 catenin beta 1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:70487 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart PMID:25586361|REF_RGD_ID:13524855 12299678 CTNNB1 catenin beta 1 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:733705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:26822237 12299678 CTNNB1 catenin beta 1 gene DOID:9007096 Stroke ISO RGD:733705 D RGD:9068941 20200609 RGD protein:increased phosphorylation, decreased expression:brain PMID:18241848|REF_RGD_ID:2289837 12299678 CTNNB1 catenin beta 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12299678 CTNNB1 catenin beta 1 gene DOID:9007174 Ventricular Remodeling ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12299678 CTNNB1 catenin beta 1 gene DOID:9007188 Liver Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10467420|PMID:21047994 12299678 CTNNB1 catenin beta 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19679878 12299678 CTNNB1 catenin beta 1 gene DOID:9007502 Brain Neoplasms ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain PMID:25157968|PMID:26619011|PMID:26822237 12299678 CTNNB1 catenin beta 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29626521 12299678 CTNNB1 catenin beta 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22975441 12299678 CTNNB1 catenin beta 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Endometrial neoplasm PMID:10192393|PMID:25157968|PMID:25741868|PMID:26619011|PMID:9065402|PMID:9294210 12299678 CTNNB1 catenin beta 1 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:733705 D RGD:9068941 20200609 RGD PMID:16803534|REF_RGD_ID:2298485 12299678 CTNNB1 catenin beta 1 gene DOID:9008086 Developmental Disabilities ISO RGD:733705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27848944|PMID:27915094|PMID:28492532|PMID:28575650 12299678 CTNNB1 catenin beta 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10027390|PMID:10192393|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:24788118|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 12299678 CTNNB1 catenin beta 1 gene DOID:9008582 Developmental Disease ISO RGD:733705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650 12299678 CTNNB1 catenin beta 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11262227 12299678 CTNNB1 catenin beta 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12165863|PMID:25330770 12299678 CTNNB1 catenin beta 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733705 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:17223851|REF_RGD_ID:2289792 12299678 CTNNB1 catenin beta 1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:733705 D RGD:9068941 20200609 RGD PMID:16707478|REF_RGD_ID:2289831 12299678 CTNNB1 catenin beta 1 gene DOID:9256 colorectal cancer ISO RGD:733705 D RGD:7240710 20200226 OMIM 12299678 CTNNB1 catenin beta 1 gene DOID:9256 colorectal cancer ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:28492532|PMID:28575650 12299678 CTNNB1 catenin beta 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:70487 D RGD:9068941 20200609 RGD protein:increased expression:cytoplasm, nucleus PMID:17893236|REF_RGD_ID:2289840 12299678 CTNNB1 catenin beta 1 gene DOID:9256 colorectal cancer treatment ISO RGD:733705 D RGD:9068941 20220728 RGD Human cells in mouse model PMID:32682784|REF_RGD_ID:153297782 12299708 HRH3 histamine receptor H3 gene DOID:10763 hypertension ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:9050021|REF_RGD_ID:1626409 12299708 HRH3 histamine receptor H3 gene DOID:10763 hypertension ISO RGD:732356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9050021 12299708 HRH3 histamine receptor H3 gene DOID:10808 gastric ulcer ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:15680274|REF_RGD_ID:1626428 12299708 HRH3 histamine receptor H3 gene DOID:10914 amnestic disorder ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:17276409|REF_RGD_ID:1626421 12299708 HRH3 histamine receptor H3 gene DOID:10914 amnestic disorder ISO RGD:732356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11125734 12299708 HRH3 histamine receptor H3 gene DOID:11446 sciatic neuropathy ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:17350523|REF_RGD_ID:1626418 12299708 HRH3 histamine receptor H3 gene DOID:11832 visual epilepsy ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:15319804|REF_RGD_ID:1626432 12299708 HRH3 histamine receptor H3 gene DOID:1824 status epilepticus ISO RGD:620630 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:16137576|REF_RGD_ID:1626426 12299708 HRH3 histamine receptor H3 gene DOID:4195 hyperglycemia ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:11684344|REF_RGD_ID:1626408 12299708 HRH3 histamine receptor H3 gene DOID:630 genetic disease ISO RGD:732356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12299708 HRH3 histamine receptor H3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:16671478|REF_RGD_ID:1626425 12299708 HRH3 histamine receptor H3 gene DOID:9004009 Reperfusion Injury ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:17169356|REF_RGD_ID:1626416 12299708 HRH3 histamine receptor H3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:15076218|REF_RGD_ID:1626433 12299708 HRH3 histamine receptor H3 gene DOID:9008023 Memory Disorders ISO RGD:732356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16488453 12299708 HRH3 histamine receptor H3 gene DOID:9009039 Hyperemia ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:15381834|REF_RGD_ID:1626431 12299708 HRH3 histamine receptor H3 gene DOID:9970 obesity ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:17189541|REF_RGD_ID:1626405 12299714 HADH hydroxyacyl-CoA dehydrogenase gene DOID:0060071 pre-malignant neoplasm ISO RGD:1351201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12299714 HADH hydroxyacyl-CoA dehydrogenase gene DOID:0070215 familial hyperinsulinemic hypoglycemia 4 ISO RGD:1351201 D RGD:7240710 20190315 OMIM 12299714 HADH hydroxyacyl-CoA dehydrogenase gene DOID:0070215 familial hyperinsulinemic hypoglycemia 4 ISO RGD:1351201 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 | ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency PMID:11489939|PMID:14693719|PMID:16725361|PMID:18414213|PMID:19318379|PMID:21252247|PMID:21347589|PMID:22579592|PMID:22662265|PMID:23273570|PMID:25741868|PMID:27104957|PMID:28492532|PMID:29280746|PMID:32876354|PMID:34055426|PMID:34547194|PMID:904979 12299714 HADH hydroxyacyl-CoA dehydrogenase gene DOID:0070215 familial hyperinsulinemic hypoglycemia 4 ISO RGD:1351201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 PMID:11489939|PMID:14693719|PMID:16725361|PMID:18414213|PMID:19318379|PMID:21252247|PMID:21347589|PMID:22579592|PMID:22662265|PMID:23273570|PMID:25741868|PMID:27104957|PMID:28492532|PMID:29280746|PMID:32876354|PMID:34055426|PMID:34547194|PMID:8825408|PMID:904979 12299714 HADH hydroxyacyl-CoA dehydrogenase gene DOID:0070219 familial hyperinsulinemic hypoglycemia 1 ISO RGD:1351201 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:25741868|PMID:28492532|PMID:29280746|PMID:34055426|PMID:34547194 12299714 HADH hydroxyacyl-CoA dehydrogenase gene DOID:13317 hyperinsulinemic hypoglycemia ISO RGD:1351201 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia PMID:16725361|PMID:21347589|PMID:25741868|PMID:27104957|PMID:28492532|PMID:29280746|PMID:32876354|PMID:34055426|PMID:34547194|PMID:8825408 12299714 HADH hydroxyacyl-CoA dehydrogenase gene DOID:2018 hyperinsulinism ISO RGD:1351201 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive PMID:25741868|PMID:28492532|PMID:29280746|PMID:34055426|PMID:34547194 12299714 HADH hydroxyacyl-CoA dehydrogenase gene DOID:5844 myocardial infarction ISO RGD:69321 D RGD:9068941 20200609 RGD PMID:11481570|REF_RGD_ID:2302229 12299714 HADH hydroxyacyl-CoA dehydrogenase gene DOID:630 genetic disease ISO RGD:1351201 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29280746|PMID:34055426|PMID:34547194 12299714 HADH hydroxyacyl-CoA dehydrogenase gene DOID:9001715 3-Hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:1351201 D RGD:7240710 20190315 OMIM 12299714 HADH hydroxyacyl-CoA dehydrogenase gene DOID:9001715 3-Hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:1351201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of 3-hydroxyacyl-CoA dehydrogenase PMID:16725361|PMID:18414213|PMID:21347589|PMID:22579592|PMID:22662265|PMID:25741868|PMID:27104957|PMID:28492532|PMID:29280746|PMID:32876354|PMID:34055426|PMID:34547194|PMID:8825408 12299714 HADH hydroxyacyl-CoA dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69321 D RGD:9068941 20200609 RGD PMID:7050060|REF_RGD_ID:2302232 12299714 HADH hydroxyacyl-CoA dehydrogenase gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:1351201 D RGD:9068941 20200609 RGD DNA:deletion:cds (human) PMID:14693719|REF_RGD_ID:2306664 12299714 HADH hydroxyacyl-CoA dehydrogenase gene DOID:9351 diabetes mellitus ISO RGD:1351201 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:22662265|PMID:25741868|PMID:27104957|PMID:28492532|PMID:29280746|PMID:34055426|PMID:34547194 12299714 HADH hydroxyacyl-CoA dehydrogenase gene DOID:9970 obesity ISO RGD:1351201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12299714 HADH hydroxyacyl-CoA dehydrogenase gene DOID:9970 obesity ISO RGD:69321 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:16088331|REF_RGD_ID:2302228 12299726 SH2D4B SH2 domain containing 4B gene DOID:630 genetic disease ISO RGD:1323129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12299736 GDE1 glycerophosphodiester phosphodiesterase 1 gene DOID:630 genetic disease ISO RGD:734410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12299746 GLYR1 glyoxylate reductase 1 homolog gene DOID:0050651 atrioventricular septal defect ISO RGD:1319811 D RGD:9068941 20220825 MouseDO OMIM:600309 | OMIM:606215 | OMIM:614430 | OMIM:614474 12299746 GLYR1 glyoxylate reductase 1 homolog gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1606767 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 12299746 GLYR1 glyoxylate reductase 1 homolog gene DOID:630 genetic disease ISO RGD:1606767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12299770 DHX16 DEAH-box helicase 16 gene DOID:1059 intellectual disability ISO RGD:1344132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31256877 12299770 DHX16 DEAH-box helicase 16 gene DOID:11372 megacolon ISO RGD:1344132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12299770 DHX16 DEAH-box helicase 16 gene DOID:1826 epilepsy ISO RGD:1344132 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:31256877 12299770 DHX16 DEAH-box helicase 16 gene DOID:630 genetic disease ISO RGD:1344132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12299770 DHX16 DEAH-box helicase 16 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1344132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:31256877 12299770 DHX16 DEAH-box helicase 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorders PMID:31256877 12299770 DHX16 DEAH-box helicase 16 gene DOID:9004696 Neuromuscular Oculoauditory Syndrome ISO RGD:1344132 D RGD:7240710 20200226 OMIM 12299770 DHX16 DEAH-box helicase 16 gene DOID:9004696 Neuromuscular Oculoauditory Syndrome ISO RGD:1344132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuromuscular disease and ocular or auditory anomalies with or without seizures PMID:25741868|PMID:31256877 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:0050563 nonsyndromic deafness ISO RGD:731649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:16648378|PMID:17492394|PMID:18544103|PMID:20301750|PMID:21917145|PMID:24033266|PMID:25741868|PMID:26346818|PMID:28492532|PMID:29529044|PMID:30311386|PMID:32567228 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:0050952 spastic ataxia ISO RGD:731649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:12955714|PMID:15605410|PMID:17603484|PMID:18060660|PMID:20301750|PMID:20738327|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:33879153 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:0080584 autosomal dominant Wolfram syndrome ISO RGD:731649 D RGD:7240710 20180130 OMIM 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:0080584 autosomal dominant Wolfram syndrome ISO RGD:731649 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant PMID:10521293|PMID:10679252|PMID:11244483|PMID:11295831|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12955714|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15912360|PMID:16151413|PMID:16648378|PMID:16806192|PMID:17492394|PMID:17603484|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:19877185|PMID:20028947|PMID:20069065|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21143470|PMID:21446023|PMID:21538838|PMID:21602428|PMID:21917145|PMID:22238590|PMID:23429432|PMID:23981289|PMID:24033266|PMID:24890733|PMID:24909696|PMID:25048417|PMID:25133958|PMID:25211237|PMID:25262649|PMID:25388789|PMID:25497598|PMID:25741868|PMID:25895475|PMID:26025012|PMID:26284228|PMID:26346818|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27217304|PMID:27395765|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28468959|PMID:28492532|PMID:28559085|PMID:28802351|PMID:29529044|PMID:29563951|PMID:29632382|PMID:30180840|PMID:30311386|PMID:30773290|PMID:31264968|PMID:31313226|PMID:31600780|PMID:32219690|PMID:32567228|PMID:32883240|PMID:33046911|PMID:33841295|PMID:33879153|PMID:34746052 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:0110241 cataract 41 ISO RGD:731649 D RGD:7240710 20180130 OMIM 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:0110241 cataract 41 ISO RGD:731649 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CATARACT 41, CONGENITAL NUCLEAR TYPE | ClinVar Annotator: match by term: Cataract 41 PMID:10521293|PMID:10679252|PMID:11244483|PMID:11260218|PMID:11295831|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12707373|PMID:12754709|PMID:12955714|PMID:15151504|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15912360|PMID:16151413|PMID:16806192|PMID:17492394|PMID:17568405|PMID:17576681|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21356526|PMID:21446023|PMID:21538838|PMID:21564155|PMID:21602428|PMID:23429432|PMID:23531866|PMID:23981289|PMID:24033266|PMID:24088041|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25262649|PMID:25388789|PMID:25497598|PMID:25542043|PMID:25714468|PMID:25741868|PMID:25895475|PMID:26025012|PMID:26284228|PMID:26435059|PMID:26467025|PMID:26633545|PMID:26969326|PMID:27068579|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28271504|PMID:28432734|PMID:28492532|PMID:28559085|PMID:28802351|PMID:29529044|PMID:29563951|PMID:29632382|PMID:30180840|PMID:30311386|PMID:30663027|PMID:30773290|PMID:31264968|PMID:31313226|PMID:31363008|PMID:31521625|PMID:31567480|PMID:31600780|PMID:31638168|PMID:32179840|PMID:32700054|PMID:32883240|PMID:33046911|PMID:33297549|PMID:33841295|PMID:33879153|PMID:34404380|PMID:34746052|PMID:9536098|PMID:9771706|PMID:9817917|PMID:9856492 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:0110584 autosomal dominant nonsyndromic deafness 6 ISO RGD:731649 D RGD:7240710 20180130 OMIM 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:0110584 autosomal dominant nonsyndromic deafness 6 ISO RGD:731649 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38 PMID:10521293|PMID:10624825|PMID:10679252|PMID:10760554|PMID:11161832|PMID:11244483|PMID:11295831|PMID:11317350|PMID:11694551|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12181639|PMID:12490066|PMID:12565131|PMID:12782971|PMID:12955714|PMID:15008830|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15852062|PMID:15912360|PMID:16151413|PMID:16408729|PMID:16648378|PMID:16806192|PMID:17492394|PMID:17517145|PMID:17576681|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:18806274|PMID:19042979|PMID:19292454|PMID:19877185|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21127832|PMID:21143470|PMID:21446023|PMID:21538838|PMID:21602428|PMID:21917145|PMID:22238590|PMID:22938506|PMID:23257691|PMID:23429432|PMID:23535966|PMID:23595122|PMID:23845777|PMID:23856252|PMID:23981289|PMID:23990876|PMID:24033266|PMID:24875298|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25262649|PMID:25388789|PMID:25392243|PMID:25497598|PMID:25741868|PMID:25842391|PMID:25895475|PMID:26025012|PMID:26064370|PMID:26284228|PMID:26346818|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27185633|PMID:27395765|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28492532|PMID:28559085|PMID:28802351|PMID:28870582|PMID:28974383|PMID:28993341|PMID:29529044|PMID:29563951|PMID:29632382|PMID:29988211|PMID:30180840|PMID:30311386|PMID:30773290|PMID:31264968|PMID:31313226|PMID:31363008|PMID:31600780|PMID:31765440|PMID:32567228|PMID:32883240|PMID:33046911|PMID:33841295|PMID:33879153|PMID:34737607|PMID:34746052|PMID:34803393|PMID:35469785|PMID:35472603|PMID:8595423|PMID:9536098|PMID:9817917 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:0110629 Wolfram syndrome 1 ISO RGD:731649 D RGD:7240710 20180919 OMIM 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:0110629 Wolfram syndrome 1 ISO RGD:731649 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1 PMID:10521293|PMID:10624825|PMID:10679252|PMID:10760554|PMID:11161832|PMID:11244483|PMID:11260218|PMID:11295831|PMID:11317350|PMID:1161832|PMID:11694551|PMID:11709537|PMID:11709538|PMID:11811080|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12565131|PMID:12754709|PMID:12782971|PMID:12913071|PMID:12955714|PMID:15008830|PMID:15151504|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15852062|PMID:15912360|PMID:16151413|PMID:16195229|PMID:16199547|PMID:16648378|PMID:16806192|PMID:17492394|PMID:17517145|PMID:17568405|PMID:17576681|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18660851|PMID:18688868|PMID:18806274|PMID:19042979|PMID:19292454|PMID:19344068|PMID:19877185|PMID:20028947|PMID:20160352|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21127832|PMID:21143470|PMID:21446023|PMID:21454619|PMID:21538838|PMID:21602428|PMID:21917145|PMID:22226368|PMID:22238590|PMID:22662265|PMID:22797899|PMID:22938506|PMID:23257691|PMID:23429432|PMID:23535966|PMID:23595122|PMID:23596069|PMID:23845777|PMID:23856252|PMID:23981289|PMID:23990876|PMID:24033266|PMID:24088041|PMID:24117146|PMID:24227685|PMID:24424032|PMID:24497219|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25173644|PMID:25211237|PMID:25250959|PMID:25262649|PMID:25388789|PMID:25392243|PMID:25497598|PMID:25714468|PMID:25741868|PMID:25842391|PMID:25895475|PMID:26025012|PMID:26284228|PMID:26346818|PMID:26435059|PMID:26467025|PMID:26633545|PMID:26773575|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27185633|PMID:27395765|PMID:27434582|PMID:27468121|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28468959|PMID:28492532|PMID:28502252|PMID:28559085|PMID:28802351|PMID:28870582|PMID:28993341|PMID:29048421|PMID:29183106|PMID:29207974|PMID:29447883|PMID:29529044|PMID:29563951|PMID:29632382|PMID:30014265|PMID:30180840|PMID:30311386|PMID:30773290|PMID:30957632|PMID:31264968|PMID:31266054|PMID:31313226|PMID:31343797|PMID:31363008|PMID:31391115|PMID:31521625|PMID:31567480|PMID:31600780|PMID:31604968|PMID:31759989|PMID:31765440|PMID:31850070|PMID:32141364|PMID:32179840|PMID:32382995|PMID:32567228|PMID:32883240|PMID:33046911|PMID:33116287|PMID:33538814|PMID:33841295|PMID:3387915|PMID:33879153|PMID:34258273|PMID:34737607|PMID:34746052|PMID:34803393|PMID:34970515|PMID:8808601|PMID:9536098|PMID:9771706|PMID:9817917|PMID:9856492 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:731649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10521293|PMID:10679252|PMID:11161832|PMID:11244483|PMID:1161832|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12955714|PMID:15151504|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15912360|PMID:16151413|PMID:16806192|PMID:17492394|PMID:17603484|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21446023|PMID:21538838|PMID:21602428|PMID:22238590|PMID:23257691|PMID:23429432|PMID:23981289|PMID:24033266|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25262649|PMID:25388789|PMID:25497598|PMID:25741868|PMID:25895475|PMID:26025012|PMID:26064370|PMID:26284228|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28492532|PMID:28559085|PMID:28802351|PMID:29529044|PMID:29563951|PMID:29632382|PMID:29988211|PMID:30180840|PMID:30311386|PMID:30773290|PMID:31264968|PMID:31313226|PMID:31600780|PMID:32141364|PMID:32883240|PMID:33046911|PMID:33841295|PMID:33879153|PMID:34746052 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:731649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10521293|PMID:10679252|PMID:11161832|PMID:11244483|PMID:11295831|PMID:1161832|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12955714|PMID:15151504|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15912360|PMID:16151413|PMID:16806192|PMID:17492394|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21143470|PMID:21446023|PMID:21538838|PMID:21602428|PMID:22238590|PMID:23257691|PMID:23429432|PMID:23981289|PMID:24033266|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25262649|PMID:25388789|PMID:25497598|PMID:25714468|PMID:25741868|PMID:25895475|PMID:26025012|PMID:26064370|PMID:26284228|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28492532|PMID:28559085|PMID:28802351|PMID:29529044|PMID:29563951|PMID:29632382|PMID:29988211|PMID:30180840|PMID:30311386|PMID:30773290|PMID:31264968|PMID:31313226|PMID:31521625|PMID:31600780|PMID:31604968|PMID:31759989|PMID:32141364|PMID:32179840|PMID:32883240|PMID:33046911|PMID:33116287|PMID:33841295|PMID:33879153|PMID:34404380|PMID:34746052|PMID:9856492 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:0111441 optic atrophy 1 ISO RGD:731649 D RGD:9068941 20200609 RGD DNA:missense mutations, deletion:multiple PMID:21538838|REF_RGD_ID:7800683 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:10003 sensorineural hearing loss ISO RGD:731649 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss PMID:12107816|PMID:22238590|PMID:24033266|PMID:25741868|PMID:28492532 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:10603 glucose intolerance treatment ISO XCO:0000907 D RGD:9068941 20211022 RGD PMID:29976929|REF_RGD_ID:150519890 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:10632 Wolfram syndrome ISO RGD:731649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness | ClinVar Annotator: match by term: Wolfram syndrome PMID:10521293|PMID:11161832|PMID:11244483|PMID:1161832|PMID:12754709|PMID:12955714|PMID:15151504|PMID:15277431|PMID:16806192|PMID:17568405|PMID:17603484|PMID:18060660|PMID:19344068|PMID:20301750|PMID:20738327|PMID:21446023|PMID:21602428|PMID:22226368|PMID:22238590|PMID:23429432|PMID:23596069|PMID:24033266|PMID:24890733|PMID:25133958|PMID:25741868|PMID:26435059|PMID:26875006|PMID:27395765|PMID:28432734|PMID:28492532|PMID:29207974|PMID:30014265|PMID:30773290|PMID:30957632|PMID:31567480|PMID:32141364|PMID:33879153 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:11832 visual epilepsy treatment ISO RGD:68954 D RGD:9068941 20200609 RGD PMID:19799711|REF_RGD_ID:8694408 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:12849 autistic disorder ISO RGD:731649 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:12955714|PMID:17603484|PMID:18060660|PMID:20301750|PMID:20738327|PMID:25741868|PMID:26435059|PMID:26969326|PMID:28492532|PMID:29529044|PMID:32883240|PMID:33879153 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:2055 post-traumatic stress disorder treatment ISO RGD:68954 D RGD:9068941 20200609 RGD PMID:17968352|REF_RGD_ID:8694407 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:2785 Dandy-Walker syndrome ISO RGD:731649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:10521293|PMID:17568405|PMID:18700423|PMID:20888932|PMID:25741868 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:5723 optic atrophy ISO RGD:731649 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R456H (rs1801206) (human) PMID:23595122|REF_RGD_ID:8694404 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:630 genetic disease ISO RGD:731649 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10521293|PMID:11161832|PMID:11295831|PMID:11317350|PMID:11709537|PMID:11811080|PMID:11920861|PMID:12073007|PMID:12707373|PMID:12913071|PMID:12955714|PMID:17492394|PMID:17568405|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18700423|PMID:19042979|PMID:19877185|PMID:20301750|PMID:20738327|PMID:20875904|PMID:20888932|PMID:21067485|PMID:21143470|PMID:21538838|PMID:21602428|PMID:22238590|PMID:23429432|PMID:23990876|PMID:24033266|PMID:24875298|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25173644|PMID:25211237|PMID:25714468|PMID:25741868|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27395765|PMID:27468121|PMID:28432734|PMID:28492532|PMID:29048421|PMID:29529044|PMID:29563951|PMID:30180840|PMID:30311386|PMID:30957632|PMID:31264968|PMID:31343797|PMID:31363008|PMID:31391115|PMID:31521625|PMID:31600780|PMID:31765440|PMID:31850070|PMID:32883240|PMID:33046911|PMID:33841295|PMID:33879153|PMID:34404380|PMID:35469785|PMID:35472603|PMID:9856492 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:6678 tooth and nail syndrome ISO RGD:731649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:83 cataract ISO RGD:731649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:83 cataract onset ISO RGD:68954 D RGD:9068941 20210806 RGD PMID:28860598|REF_RGD_ID:149735331 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:9000053 Headache ISO RGD:731649 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.H611R (human) PMID:17719176|REF_RGD_ID:8694403 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:9004538 Hearing Loss ISO RGD:731649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:11161832|PMID:11317350|PMID:12073007|PMID:15605410|PMID:22238590|PMID:23429432|PMID:24033266|PMID:24890733|PMID:24909696|PMID:25048417|PMID:25211237|PMID:25741868|PMID:27395765|PMID:28492532|PMID:29563951|PMID:30311386|PMID:31343797|PMID:31391115|PMID:31765440|PMID:31850070 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:731649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:12955714|PMID:17603484|PMID:18060660|PMID:20301750|PMID:20738327|PMID:21446023|PMID:21602428|PMID:24033266|PMID:28492532|PMID:33879153 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:9351 diabetes mellitus ISO RGD:731649 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:10521293|PMID:10624825|PMID:10679252|PMID:11161832|PMID:11244483|PMID:11295831|PMID:11317350|PMID:11694551|PMID:11709537|PMID:11709538|PMID:11811080|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12565131|PMID:12707373|PMID:12754709|PMID:12782971|PMID:12913071|PMID:12955714|PMID:15008830|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15852062|PMID:17492394|PMID:17568405|PMID:17603484|PMID:18060660|PMID:18414213|PMID:18544103|PMID:19042979|PMID:19292454|PMID:19344068|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21446023|PMID:21602428|PMID:22226368|PMID:22238590|PMID:22797899|PMID:23429432|PMID:23595122|PMID:23596069|PMID:23981289|PMID:24033266|PMID:24497219|PMID:24875298|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25173644|PMID:25211237|PMID:25262649|PMID:25497598|PMID:25741868|PMID:25842391|PMID:25895475|PMID:26025012|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27395765|PMID:27468121|PMID:27617222|PMID:28432734|PMID:28492532|PMID:28502252|PMID:28559085|PMID:29207974|PMID:29529044|PMID:29563951|PMID:30014265|PMID:30180840|PMID:30311386|PMID:30957632|PMID:31264968|PMID:31343797|PMID:31391115|PMID:31567480|PMID:31600780|PMID:31638168|PMID:31765440|PMID:31850070|PMID:32179840|PMID:33046911|PMID:33538814|PMID:33841295|PMID:33879153|PMID:34404380|PMID:34746052|PMID:35469785|PMID:35472603 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:9351 diabetes mellitus onset ISO RGD:68954 D RGD:9068941 20210806 RGD PMID:28860598|REF_RGD_ID:149735331 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:9352 type 2 diabetes mellitus ISO RGD:731649 D RGD:7240710 20180130 OMIM 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:9352 type 2 diabetes mellitus ISO RGD:731649 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST | ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus PMID:10521293|PMID:10679252|PMID:11161832|PMID:11244483|PMID:1161832|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12955714|PMID:15151504|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:16151413|PMID:16806192|PMID:17492394|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21446023|PMID:21538838|PMID:21602428|PMID:22238590|PMID:23257691|PMID:23429432|PMID:23981289|PMID:24033266|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25262649|PMID:25326637|PMID:25388789|PMID:25497598|PMID:25714468|PMID:25741868|PMID:25895475|PMID:26025012|PMID:26064370|PMID:26284228|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28492532|PMID:28559085|PMID:28802351|PMID:29529044|PMID:29632382|PMID:29988211|PMID:30311386|PMID:30773290|PMID:31264968|PMID:31313226|PMID:31521625|PMID:31600780|PMID:31604968|PMID:31759989|PMID:32141364|PMID:32179840|PMID:33116287|PMID:33879153|PMID:34746052|PMID:9856492 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:9352 type 2 diabetes mellitus ISO RGD:731649 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus PMID:10521293|PMID:10679252|PMID:11161832|PMID:11244483|PMID:11295831|PMID:1161832|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12955714|PMID:15151504|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15912360|PMID:16151413|PMID:16806192|PMID:17492394|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21143470|PMID:21446023|PMID:21538838|PMID:21602428|PMID:22238590|PMID:23257691|PMID:23429432|PMID:23981289|PMID:24033266|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25262649|PMID:25388789|PMID:25497598|PMID:25714468|PMID:25741868|PMID:25895475|PMID:26025012|PMID:26064370|PMID:26284228|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28492532|PMID:28559085|PMID:28802351|PMID:29529044|PMID:29563951|PMID:29632382|PMID:29988211|PMID:30180840|PMID:30311386|PMID:30773290|PMID:31264968|PMID:31313226|PMID:31521625|PMID:31600780|PMID:31604968|PMID:31759989|PMID:32141364|PMID:32179840|PMID:32883240|PMID:33046911|PMID:33116287|PMID:33841295|PMID:33879153|PMID:34404380|PMID:34746052|PMID:9856492 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:731649 D RGD:9068941 20200609 RGD DNA:SNPs: :rs734312, rs752854, rs10010131 (human) PMID:18060660|REF_RGD_ID:8694399 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:731649 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs734312, rs752854, rs10010131 (human) PMID:21713316|REF_RGD_ID:8694400 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:9744 type 1 diabetes mellitus ISO RGD:731649 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.R456H (human) PMID:10679252|REF_RGD_ID:8694402 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:9744 type 1 diabetes mellitus ISO RGD:731650 D RGD:9068941 20200609 RGD PMID:15056606|REF_RGD_ID:8694393 12299800 WFS1 wolframin ER transmembrane glycoprotein gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:731649 D RGD:9068941 20200609 RGD DNA:mutations:exons, 5' utr, 3' utr:multiple PMID:15008830|REF_RGD_ID:8694396 12299824 MFSD13A major facilitator superfamily domain containing 13A gene DOID:630 genetic disease ISO RGD:1319594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12299842 LHFPL1 LHFPL tetraspan subfamily member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1601697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12299842 LHFPL1 LHFPL tetraspan subfamily member 1 gene DOID:12849 autistic disorder ISO RGD:1601697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12299842 LHFPL1 LHFPL tetraspan subfamily member 1 gene DOID:5419 schizophrenia ISO RGD:1601697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12299842 LHFPL1 LHFPL tetraspan subfamily member 1 gene DOID:630 genetic disease ISO RGD:1601697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12299853 EMD emerin gene DOID:0050454 periventricular nodular heterotopia ISO RGD:735605 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:18854860|PMID:19396829|PMID:19846429|PMID:20730588|PMID:20871226|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12299853 EMD emerin gene DOID:0050476 Barth syndrome ISO RGD:735605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12299853 EMD emerin gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:735605 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868|PMID:32860008 12299853 EMD emerin gene DOID:0050700 cardiomyopathy ISO RGD:735605 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:19377476|PMID:20474083|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26820365|PMID:28492532|PMID:29961767|PMID:31024910 12299853 EMD emerin gene DOID:0050800 creatine transporter deficiency ISO RGD:735605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12299853 EMD emerin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12299853 EMD emerin gene DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 ISO RGD:735605 D RGD:7240710 20180912 OMIM 12299853 EMD emerin gene DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures PMID:10323252|PMID:10382909|PMID:10382910|PMID:10393813|PMID:10399752|PMID:10480214|PMID:11385714|PMID:15967842|PMID:16080119|PMID:16199547|PMID:17067998|PMID:17355552|PMID:17576681|PMID:17620497|PMID:18646565|PMID:19997654|PMID:20474083|PMID:21496632|PMID:21520333|PMID:21697856|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24375709|PMID:24503780|PMID:25030574|PMID:25210889|PMID:25741868|PMID:26187847|PMID:26247046|PMID:26415001|PMID:26467025|PMID:26675233|PMID:26899768|PMID:28492532|PMID:31185657|PMID:31474437|PMID:31475473|PMID:32860008|PMID:34524739|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9195226|PMID:9266737|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098 12299853 EMD emerin gene DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 ISO RGD:735605 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive Emery-Dreifuss type, with contractures | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures PMID:12872622|PMID:17576681|PMID:17620497|PMID:19377476|PMID:20474083|PMID:21496632|PMID:21520333|PMID:21697856|PMID:21993399|PMID:23395478|PMID:24033266|PMID:24365856|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26820365|PMID:26899768|PMID:27854218|PMID:28492532|PMID:29961767|PMID:30079154|PMID:30763825|PMID:30847666|PMID:31024910|PMID:31185657|PMID:31718017|PMID:8595406|PMID:9536098 12299853 EMD emerin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 12299853 EMD emerin gene DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J ISO RGD:735605 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:24033266|PMID:27854218|PMID:28492532 12299853 EMD emerin gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868 12299853 EMD emerin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868 12299853 EMD emerin gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:735605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 12299853 EMD emerin gene DOID:0112003 immunodeficiency 33 ISO RGD:735605 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12299853 EMD emerin gene DOID:10588 adrenoleukodystrophy ISO RGD:735605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12299853 EMD emerin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735605 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10323252|PMID:10382909|PMID:10393813|PMID:10399752|PMID:10428430|PMID:10480214|PMID:11385714|PMID:1178008|PMID:15967842|PMID:16080119|PMID:17067998|PMID:17355552|PMID:17576681|PMID:18646565|PMID:19345147|PMID:1998333|PMID:20474083|PMID:21496632|PMID:21697856|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24503780|PMID:25741868|PMID:26187847|PMID:26415001|PMID:26467025|PMID:26675233|PMID:26899768|PMID:28492532|PMID:31185657|PMID:31474437|PMID:32860008|PMID:34524739|PMID:7294729|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098 12299853 EMD emerin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735605 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10323252|PMID:10382909|PMID:10393813|PMID:10399752|PMID:10428430|PMID:10480214|PMID:11385714|PMID:1178008|PMID:15967842|PMID:16080119|PMID:17067998|PMID:17355552|PMID:17576681|PMID:18646565|PMID:19345147|PMID:1998333|PMID:20474083|PMID:21496632|PMID:21697856|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24503780|PMID:25741868|PMID:26187847|PMID:26415001|PMID:26467025|PMID:26675233|PMID:26820365|PMID:26899768|PMID:28492532|PMID:29961767|PMID:31024910|PMID:31185657|PMID:31474437|PMID:32860008|PMID:34524739|PMID:7294729|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098 12299853 EMD emerin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10220866|PMID:10323252|PMID:10382909|PMID:10382910|PMID:10393813|PMID:10399752|PMID:10428430|PMID:10480214|PMID:10874323|PMID:11385714|PMID:11587540|PMID:11748843|PMID:1178008|PMID:11968085|PMID:12872622|PMID:15328537|PMID:15967842|PMID:16080119|PMID:16199547|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17067998|PMID:17355552|PMID:17576681|PMID:17620497|PMID:18646565|PMID:19377476|PMID:19396829|PMID:19846429|PMID:1998333|PMID:19997654|PMID:20474083|PMID:20730588|PMID:21496632|PMID:21520333|PMID:21697856|PMID:21993399|PMID:22281021|PMID:22382802|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23409742|PMID:23660394|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24375709|PMID:24503780|PMID:24962355|PMID:25030574|PMID:25210889|PMID:25741868|PMID:26187847|PMID:26247046|PMID:26415001|PMID:26467025|PMID:26471271|PMID:26675233|PMID:26820365|PMID:26899768|PMID:28492532|PMID:29334594|PMID:29349559|PMID:29961767|PMID:30079154|PMID:30763825|PMID:30847666|PMID:31024910|PMID:31185657|PMID:31474437|PMID:31475473|PMID:31645980|PMID:31718017|PMID:32860008|PMID:32880476|PMID:33124102|PMID:34026875|PMID:34524739|PMID:7294729|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9195226|PMID:9266737|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098 12299853 EMD emerin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735605 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10220866|PMID:10323252|PMID:10382909|PMID:10382910|PMID:10393813|PMID:10399752|PMID:10428430|PMID:10480214|PMID:10874323|PMID:11385714|PMID:11587540|PMID:11748843|PMID:1178008|PMID:11968085|PMID:12872622|PMID:15328537|PMID:15967842|PMID:16080119|PMID:16199547|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17067998|PMID:17355552|PMID:17576681|PMID:17620497|PMID:18646565|PMID:19377476|PMID:19396829|PMID:19846429|PMID:1998333|PMID:19997654|PMID:20474083|PMID:20730588|PMID:21496632|PMID:21520333|PMID:21697856|PMID:21993399|PMID:22281021|PMID:22382802|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23409742|PMID:23660394|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24375709|PMID:24503780|PMID:24962355|PMID:25030574|PMID:25210889|PMID:25741868|PMID:26187847|PMID:26247046|PMID:26415001|PMID:26467025|PMID:26471271|PMID:26675233|PMID:26820365|PMID:26899768|PMID:27854218|PMID:28492532|PMID:29334594|PMID:29349559|PMID:29961767|PMID:30079154|PMID:30763825|PMID:30847666|PMID:31024910|PMID:31185657|PMID:31474437|PMID:31475473|PMID:31645980|PMID:31718017|PMID:32860008|PMID:32880476|PMID:33124102|PMID:34026875|PMID:34524739|PMID:7294729|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9195226|PMID:9266737|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098 12299853 EMD emerin gene DOID:12849 autistic disorder ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12299853 EMD emerin gene DOID:12930 dilated cardiomyopathy ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 12299853 EMD emerin gene DOID:13628 favism ISO RGD:735605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12299853 EMD emerin gene DOID:2729 dyskeratosis congenita ISO RGD:735605 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12299853 EMD emerin gene DOID:423 myopathy ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 12299853 EMD emerin gene DOID:440 neuromuscular disease ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:10382909|PMID:10428430|PMID:1178008|PMID:18646565|PMID:1998333|PMID:21697856|PMID:24033266|PMID:7294729|PMID:8595407 12299853 EMD emerin gene DOID:607 paraplegia ISO RGD:735605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12299853 EMD emerin gene DOID:9002720 Splenomegaly ISO RGD:735605 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12299867 CATSPERB cation channel sperm associated auxiliary subunit beta gene DOID:0080054 achondrogenesis type IA ISO RGD:1345422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12299867 CATSPERB cation channel sperm associated auxiliary subunit beta gene DOID:630 genetic disease ISO RGD:1345422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12299901 KRT28 keratin 28 gene DOID:630 genetic disease ISO RGD:1319917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:0050424 familial adenomatous polyposis ISO RGD:734076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:25741868|PMID:26467025|PMID:28492532 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 ISO RGD:734076 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:25741868|PMID:28492532 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:734076 D RGD:9068941 20220812 RGD protein:decreased expression:colorectum (human) PMID:32567205|REF_RGD_ID:151347643 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:1059 intellectual disability ISO RGD:734076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:1520 colon carcinoma ISO RGD:734076 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:15322521|PMID:15766587|PMID:19966286|PMID:25032700|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26467025|PMID:26648449|PMID:26811195|PMID:27435373|PMID:28125075|PMID:28492532|PMID:29120461|PMID:30680046|PMID:30827058|PMID:33144657|PMID:33193653|PMID:33332384 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:1612 breast cancer ISO RGD:734076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:23376243|PMID:24033266|PMID:24123366|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27153395|PMID:27535533|PMID:28492532 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:1924 hypogonadism ISO RGD:734076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770608 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:219 colon cancer ISO RGD:734076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:25741868|PMID:26467025|PMID:28492532 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:2394 ovarian cancer ISO RGD:734076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer PMID:25741868|PMID:26467025|PMID:28492532 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:2871 endometrial carcinoma ISO RGD:734076 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:12376507|PMID:17145065|PMID:25741868|PMID:26467025|PMID:28492532 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:734076 D RGD:9068941 20220818 RGD protein:increased expression:lung (human) PMID:33442399|REF_RGD_ID:153323317 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:4606 bile duct cancer ISO RGD:734076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:25741868|PMID:26467025|PMID:28492532 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:4905 pancreatic carcinoma ISO RGD:734076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:630 genetic disease ISO RGD:734076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:811 lipodystrophy ISO RGD:734076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770608 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9000066 Jaw Abnormalities ISO RGD:734076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770608 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9003949 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome ISO RGD:734076 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome PMID:17576681|PMID:23770608|PMID:24033266|PMID:25583476|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31780696|PMID:32885271|PMID:9536098 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9003949 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome susceptibility ISO RGD:734076 D RGD:7240710 20230505 OMIM 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:734076 D RGD:9068941 20220812 RGD associated with lung non-small cell carcinoma; DNA:SNPs:exon, introns: (rs1726801, rs1673041, rs3219341) (human) PMID:28924235|REF_RGD_ID:153323316 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10074927|PMID:12376507|PMID:15322521|PMID:15766587|PMID:16699561|PMID:16741161|PMID:17067213|PMID:17145065|PMID:17576681|PMID:17855454|PMID:19282447|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21636617|PMID:23263490|PMID:23376243|PMID:23447401|PMID:23528559|PMID:24033266|PMID:24123366|PMID:24501277|PMID:25032700|PMID:25228659|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26344056|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27435373|PMID:27535533|PMID:28125075|PMID:28166811|PMID:28306219|PMID:28423643|PMID:28492532|PMID:28608266|PMID:28687338|PMID:28790115|PMID:28912153|PMID:29212164|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30267214|PMID:30827058|PMID:31285513|PMID:31449058|PMID:32792570|PMID:7704014|PMID:9536098 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734076 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10074927|PMID:12376507|PMID:15322521|PMID:15766587|PMID:16699561|PMID:16741161|PMID:17067213|PMID:17145065|PMID:17576681|PMID:17855454|PMID:19282447|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21636617|PMID:23263490|PMID:23376243|PMID:23447401|PMID:23528559|PMID:24033266|PMID:24123366|PMID:24501277|PMID:25032700|PMID:25228659|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26344056|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27435373|PMID:27535533|PMID:28125075|PMID:28306219|PMID:28423643|PMID:28492532|PMID:28608266|PMID:28687338|PMID:28790115|PMID:28912153|PMID:29212164|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30267214|PMID:30827058|PMID:31285513|PMID:31449058|PMID:32359129|PMID:32567205|PMID:32792570|PMID:7704014|PMID:9536098 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734076 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10074927|PMID:12376507|PMID:15322521|PMID:15766587|PMID:16699561|PMID:16741161|PMID:17067213|PMID:17145065|PMID:17576681|PMID:17855454|PMID:19282447|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21636617|PMID:23263490|PMID:23376243|PMID:23447401|PMID:23528559|PMID:24033266|PMID:24123366|PMID:24501277|PMID:25032700|PMID:25228659|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26344056|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27435373|PMID:27535533|PMID:28125075|PMID:28306219|PMID:28423643|PMID:28492532|PMID:28608266|PMID:28687338|PMID:28790115|PMID:28912153|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30185652|PMID:30267214|PMID:30306255|PMID:30680046|PMID:30827058|PMID:31285513|PMID:31449058|PMID:32359129|PMID:32567205|PMID:32792570|PMID:33144657|PMID:33193653|PMID:33332384|PMID:7704014|PMID:9536098 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734076 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10074927|PMID:12376507|PMID:15322521|PMID:15766587|PMID:16699561|PMID:16741161|PMID:17067213|PMID:17145065|PMID:17576681|PMID:17855454|PMID:19282447|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21636617|PMID:23263490|PMID:23376243|PMID:23447401|PMID:23528559|PMID:24033266|PMID:24123366|PMID:24501277|PMID:25032700|PMID:25228659|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26344056|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27435373|PMID:27535533|PMID:27854218|PMID:28125075|PMID:28306219|PMID:28423643|PMID:28492532|PMID:28608266|PMID:28687338|PMID:28790115|PMID:28912153|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30185652|PMID:30267214|PMID:30306255|PMID:30680046|PMID:30827058|PMID:31285513|PMID:31449058|PMID:32359129|PMID:32567205|PMID:32792570|PMID:33144657|PMID:33193653|PMID:33332384|PMID:7704014|PMID:9536098 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10074927|PMID:12376507|PMID:15322521|PMID:15766587|PMID:16699561|PMID:17145065|PMID:17576681|PMID:19282447|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21636617|PMID:23263490|PMID:23376243|PMID:23447401|PMID:23528559|PMID:24033266|PMID:24123366|PMID:24501277|PMID:25032700|PMID:25228659|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26344056|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27435373|PMID:27535533|PMID:27854218|PMID:28125075|PMID:28306219|PMID:28423643|PMID:28492532|PMID:28608266|PMID:28687338|PMID:28790115|PMID:28912153|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30185652|PMID:30267214|PMID:30306255|PMID:30680046|PMID:30827058|PMID:31285513|PMID:31422818|PMID:31449058|PMID:32359129|PMID:32567205|PMID:32634176|PMID:32792570|PMID:32885271|PMID:32984025|PMID:33144657|PMID:33193653|PMID:33332384|PMID:33436027|PMID:34130653|PMID:7704014|PMID:9536098 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10074927|PMID:12376507|PMID:15322521|PMID:15766587|PMID:16699561|PMID:17145065|PMID:17576681|PMID:19282447|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21636617|PMID:23263490|PMID:23376243|PMID:23447401|PMID:23528559|PMID:24033266|PMID:24123366|PMID:24501277|PMID:25032700|PMID:25228659|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26344056|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27435373|PMID:27535533|PMID:28125075|PMID:28306219|PMID:28423643|PMID:28492532|PMID:28608266|PMID:28687338|PMID:28790115|PMID:28912153|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30185652|PMID:30267214|PMID:30306255|PMID:30680046|PMID:30827058|PMID:31285513|PMID:31422818|PMID:31449058|PMID:32359129|PMID:32567205|PMID:32634176|PMID:32792570|PMID:32885271|PMID:32984025|PMID:33144657|PMID:33193653|PMID:33332384|PMID:33436027|PMID:34130653|PMID:7704014|PMID:9536098 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9007653 Multiple Abnormalities ISO RGD:734076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770608 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9007715 Endometrial Neoplasms ISO RGD:734076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23263490 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9008443 Colorectal Neoplasms ISO RGD:734076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23263490 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9008443 Colorectal Neoplasms ISO RGD:734076 D RGD:9068941 20220812 RGD DNA:nonsense mutation, missense mutation:CDS:p.195*, p.V759I (human) PMID:30086056|REF_RGD_ID:151347647 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9008681 Deafness ISO RGD:734076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770608 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9009054 Colorectal Cancer 10 ISO RGD:734076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 19q | ClinVar Annotator: match by term: Colorectal cancer 10 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 10 PMID:10074927|PMID:10541966|PMID:12376507|PMID:14767555|PMID:15322521|PMID:15766587|PMID:16699561|PMID:17121822|PMID:17145065|PMID:17576681|PMID:19282447|PMID:19718023|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21258395|PMID:21636617|PMID:23065663|PMID:23245697|PMID:23263490|PMID:23283971|PMID:23376243|PMID:23447401|PMID:23528559|PMID:23770608|PMID:24033266|PMID:24123366|PMID:24501277|PMID:24861832|PMID:25032700|PMID:25131834|PMID:25202305|PMID:25217194|PMID:25228659|PMID:25370038|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25625332|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25827231|PMID:25938944|PMID:26133394|PMID:26172944|PMID:26206375|PMID:26344056|PMID:26438511|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27320729|PMID:27435373|PMID:27535533|PMID:28125075|PMID:28202063|PMID:28306219|PMID:28368425|PMID:28423643|PMID:28492532|PMID:28608266|PMID:28687338|PMID:28717660|PMID:28790115|PMID:28912153|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29406563|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30093976|PMID:30185652|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30680046|PMID:30827058|PMID:31285513|PMID:31422818|PMID:31449058|PMID:31629014|PMID:31750734|PMID:31780696|PMID:31866764|PMID:31944473|PMID:32255556|PMID:32265515|PMID:32359129|PMID:32567205|PMID:32634176|PMID:32792570|PMID:32885271|PMID:32984025|PMID:33144657|PMID:33193653|PMID:33332384|PMID:33436027|PMID:34130653|PMID:7704014|PMID:9536098 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9009054 Colorectal Cancer 10 susceptibility ISO RGD:734076 D RGD:7240710 20190502 OMIM 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:734076 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:24033266|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26467025|PMID:26648449|PMID:26648538|PMID:28125075|PMID:28492532|PMID:28608266|PMID:29212164|PMID:29987844|PMID:30083234|PMID:30374176|PMID:30827058|PMID:31285513|PMID:31449058 12299915 POLD1 DNA polymerase delta 1, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:734076 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer PMID:24033266|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26467025|PMID:26648449|PMID:26648538|PMID:28125075|PMID:28492532|PMID:28608266|PMID:29212164|PMID:29987844|PMID:30083234|PMID:30374176|PMID:30680046|PMID:30827058|PMID:31285513|PMID:31449058|PMID:32792570|PMID:33193653|PMID:33332384 12299949 THAP10 THAP domain containing 10 gene DOID:2717 Bloom syndrome ISO RGD:1352281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12299949 THAP10 THAP domain containing 10 gene DOID:630 genetic disease ISO RGD:1352281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12299949 THAP10 THAP domain containing 10 gene DOID:9256 colorectal cancer ISO RGD:1352281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12299956 S100A2 S100 calcium binding protein A2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1353498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12299956 S100A2 S100 calcium binding protein A2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1353498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12299956 S100A2 S100 calcium binding protein A2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1353498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12299956 S100A2 S100 calcium binding protein A2 gene DOID:1540 parathyroid carcinoma ISO RGD:1353498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12299956 S100A2 S100 calcium binding protein A2 gene DOID:5812 MHC class II deficiency ISO RGD:1353498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12299956 S100A2 S100 calcium binding protein A2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12299970 LOC102151341 serine protease-like protein 51 gene DOID:630 genetic disease ISO RGD:6895556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12299970 LOC102151341 serine protease-like protein 51 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:6895556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12300007 PDCL2 phosducin like 2 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1344096 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 12300007 PDCL2 phosducin like 2 gene DOID:630 genetic disease ISO RGD:1344096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300017 DPY19L2 dpy-19 like 2 gene DOID:0111156 spermatogenic failure 9 ISO RGD:1606928 D RGD:7240710 20180130 OMIM 12300017 DPY19L2 dpy-19 like 2 gene DOID:0111156 spermatogenic failure 9 ISO RGD:1606928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 9 PMID:15533374|PMID:21397063|PMID:21397064|PMID:22627659|PMID:22653751|PMID:25741868|PMID:28492532|PMID:33108537 12300017 DPY19L2 dpy-19 like 2 gene DOID:630 genetic disease ISO RGD:1606928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300043 LRCH1 leucine rich repeats and calponin homology domain containing 1 gene DOID:2377 multiple sclerosis ISO RGD:1558043 D RGD:9068941 20220825 MouseDO OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810 12300043 LRCH1 leucine rich repeats and calponin homology domain containing 1 gene DOID:630 genetic disease ISO RGD:1313845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300043 LRCH1 leucine rich repeats and calponin homology domain containing 1 gene DOID:9007096 Stroke ISO RGD:1313845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 12300069 SMNDC1 survival motor neuron domain containing 1 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:1319332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 12300069 SMNDC1 survival motor neuron domain containing 1 gene DOID:630 genetic disease ISO RGD:1319332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300086 WDR24 WD repeat domain 24 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1344935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12300086 WDR24 WD repeat domain 24 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1344935 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12300086 WDR24 WD repeat domain 24 gene DOID:1826 epilepsy ISO RGD:1344935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12300086 WDR24 WD repeat domain 24 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12300086 WDR24 WD repeat domain 24 gene DOID:630 genetic disease ISO RGD:1344935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300102 CDC14A cell division cycle 14A gene DOID:0110491 autosomal recessive nonsyndromic deafness 32 ISO RGD:1312211 D RGD:7240710 20190315 OMIM 12300102 CDC14A cell division cycle 14A gene DOID:0110491 autosomal recessive nonsyndromic deafness 32 ISO RGD:1312211 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 105 | ClinVar Annotator: match by term: Deafness, autosomal recessive 32 PMID:12634867|PMID:24033266|PMID:25741868|PMID:27259055|PMID:28492532|PMID:29293958|PMID:32747562 12300102 CDC14A cell division cycle 14A gene DOID:10003 sensorineural hearing loss ISO RGD:1312211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 12300102 CDC14A cell division cycle 14A gene DOID:12336 male infertility ISO RGD:1312211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29293958 12300102 CDC14A cell division cycle 14A gene DOID:14228 oligospermia ISO RGD:1312211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29293958 12300102 CDC14A cell division cycle 14A gene DOID:630 genetic disease ISO RGD:1312211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12300102 CDC14A cell division cycle 14A gene DOID:9008681 Deafness ISO RGD:1312211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29293958 12300102 CDC14A cell division cycle 14A gene DOID:9269 maple syrup urine disease ISO RGD:1312211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 12300128 SLC9C2 solute carrier family 9 member C2 (putative) gene DOID:1540 parathyroid carcinoma ISO RGD:1354032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12300128 SLC9C2 solute carrier family 9 member C2 (putative) gene DOID:3755 antithrombin III deficiency ISO RGD:1354032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 12300128 SLC9C2 solute carrier family 9 member C2 (putative) gene DOID:630 genetic disease ISO RGD:1354032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300128 SLC9C2 solute carrier family 9 member C2 (putative) gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1354032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 12300128 SLC9C2 solute carrier family 9 member C2 (putative) gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1354032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 12300128 SLC9C2 solute carrier family 9 member C2 (putative) gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12300165 RTL6 retrotransposon Gag like 6 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1345067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12300165 RTL6 retrotransposon Gag like 6 gene DOID:1059 intellectual disability ISO RGD:1345067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12300165 RTL6 retrotransposon Gag like 6 gene DOID:303 substance-related disorder ISO RGD:1345067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12300165 RTL6 retrotransposon Gag like 6 gene DOID:630 genetic disease ISO RGD:1345067 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300170 ENTHD1 ENTH domain containing 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1602180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12300170 ENTHD1 ENTH domain containing 1 gene DOID:630 genetic disease ISO RGD:1602180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300183 MANEA mannosidase endo-alpha gene DOID:11612 polycystic ovary syndrome ISO RGD:1345544 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12300183 MANEA mannosidase endo-alpha gene DOID:630 genetic disease ISO RGD:1345544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300183 MANEA mannosidase endo-alpha gene DOID:9004890 Paranoid Disorders ISO RGD:1345544 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 12300183 MANEA mannosidase endo-alpha gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1345544 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686|PMID:19255376 12300216 RAD21 RAD21 cohesin complex component gene DOID:0050866 oral squamous cell carcinoma exacerbates ISO RGD:1317642 D RGD:9068941 20211022 RGD mRNA:decreased expression:oral cavity (human) PMID:16416296|REF_RGD_ID:150520028 12300216 RAD21 RAD21 cohesin complex component gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:1317642 D RGD:9068941 20211022 RGD mRNA, protein:increased expression:colorectum (human) PMID:30546056|REF_RGD_ID:150520034 12300216 RAD21 RAD21 cohesin complex component gene DOID:0080508 Cornelia de Lange syndrome 4 ISO RGD:1317642 D RGD:7240710 20180130 OMIM 12300216 RAD21 RAD21 cohesin complex component gene DOID:0080508 Cornelia de Lange syndrome 4 ISO RGD:1317642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 4 PMID:17576681|PMID:18414213|PMID:22633399|PMID:24378232|PMID:25326637|PMID:25741868|PMID:27620904|PMID:27882533|PMID:28492532|PMID:30125677|PMID:30158690|PMID:30716475|PMID:31173765|PMID:31334757|PMID:32193685|PMID:32696056|PMID:9536098 12300216 RAD21 RAD21 cohesin complex component gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1317642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:27993330 12300216 RAD21 RAD21 cohesin complex component gene DOID:11725 Cornelia de Lange syndrome ISO RGD:1317642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: De Lange syndrome 12300216 RAD21 RAD21 cohesin complex component gene DOID:1380 endometrial cancer onset ISO RGD:1317642 D RGD:9068941 20230427 RGD DNA:CNV: (human) PMID:25546926|REF_RGD_ID:329322876 12300216 RAD21 RAD21 cohesin complex component gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1317642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12300216 RAD21 RAD21 cohesin complex component gene DOID:206 hereditary multiple exostoses ISO RGD:1317642 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 12300216 RAD21 RAD21 cohesin complex component gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1317642 D RGD:9068941 20211022 RGD mRNA:increased expression:lung (human) PMID:32178590|REF_RGD_ID:150520031 12300216 RAD21 RAD21 cohesin complex component gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1317642 D RGD:9068941 20211022 RGD DNA:SNP:intron: (rs1374297) (human) PMID:28977903|REF_RGD_ID:150520036 12300216 RAD21 RAD21 cohesin complex component gene DOID:630 genetic disease ISO RGD:1317642 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:22633399|PMID:24378232|PMID:25125236|PMID:25741868|PMID:27882533|PMID:28441377|PMID:28492532|PMID:31173765 12300216 RAD21 RAD21 cohesin complex component gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1317642 D RGD:9068941 20211022 RGD mRNA:increased expression:liver (human) PMID:32596342|REF_RGD_ID:150520035 12300216 RAD21 RAD21 cohesin complex component gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1317642 D RGD:9068941 20211022 RGD protein:increased expression:liver (human) PMID:28434945|REF_RGD_ID:150520030 12300216 RAD21 RAD21 cohesin complex component gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1317642 D RGD:9068941 20211022 RGD associated with hepatitis c, liver cirrhosis;mRNA:increased expression:liver (human) PMID:30698808|REF_RGD_ID:150520029 12300216 RAD21 RAD21 cohesin complex component gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1317642 D RGD:9068941 20211022 RGD human cells in a mouse model PMID:33251678|REF_RGD_ID:150520026 12300216 RAD21 RAD21 cohesin complex component gene DOID:7474 malignant pleural mesothelioma ISO RGD:1317642 D RGD:9068941 20211022 RGD PMID:19380173|REF_RGD_ID:150520037 12300216 RAD21 RAD21 cohesin complex component gene DOID:8692 myeloid leukemia ISO RGD:1317642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23955599 12300216 RAD21 RAD21 cohesin complex component gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1594529 D RGD:9068941 20230415 RGD PMID:33741460|REF_RGD_ID:243065262 12300216 RAD21 RAD21 cohesin complex component gene DOID:9002676 Cerebral Hemorrhage severity ISO RGD:1594529 D RGD:9068941 20230420 RGD PMID:36538854|REF_RGD_ID:243065265 12300216 RAD21 RAD21 cohesin complex component gene DOID:9003170 Mungan Syndrome ISO RGD:1317642 D RGD:7240710 20190315 OMIM 12300216 RAD21 RAD21 cohesin complex component gene DOID:9003170 Mungan Syndrome ISO RGD:1317642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mungan syndrome PMID:14638363|PMID:18414213|PMID:25575569|PMID:25741868|PMID:28492532 12300216 RAD21 RAD21 cohesin complex component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 12300237 DCHS2 dachsous cadherin-related 2 gene DOID:10283 prostate cancer ISO RGD:1603301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12300237 DCHS2 dachsous cadherin-related 2 gene DOID:630 genetic disease ISO RGD:1603301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300260 ADGRF3 adhesion G protein-coupled receptor F3 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1314157 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12300260 ADGRF3 adhesion G protein-coupled receptor F3 gene DOID:630 genetic disease ISO RGD:1314157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300302 NAT10 N-acetyltransferase 10 gene DOID:1059 intellectual disability ISO RGD:1605376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12300302 NAT10 N-acetyltransferase 10 gene DOID:630 genetic disease ISO RGD:1605376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300341 LOC484224 zinc finger protein 324A gene DOID:630 genetic disease ISO RGD:1315356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300369 SOX12 SRY-box transcription factor 12 gene DOID:630 genetic disease ISO RGD:1318728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300369 SOX12 SRY-box transcription factor 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12300377 EPHB2 EPH receptor B2 gene DOID:0060673 Peters anomaly ISO RGD:1605126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459 12300377 EPHB2 EPH receptor B2 gene DOID:0080600 COVID-19 ISO RGD:1605126 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12300377 EPHB2 EPH receptor B2 gene DOID:10127 cerebral artery occlusion ameliorates ISO RGD:1617631 D RGD:9068941 20210625 RGD PMID:18639535|REF_RGD_ID:127285624 12300377 EPHB2 EPH receptor B2 gene DOID:10652 Alzheimer's disease ameliorates ISO RGD:1617631 D RGD:9068941 20210625 RGD PMID:21113149|REF_RGD_ID:12859080 12300377 EPHB2 EPH receptor B2 gene DOID:12365 malaria ISO RGD:1617631 D RGD:9068941 20210625 RGD mRNA:increased expression:liver PMID:25784101|REF_RGD_ID:127285023 12300377 EPHB2 EPH receptor B2 gene DOID:1561 cognitive disorder ISO RGD:1605126 D RGD:9068941 20210625 RGD associated with human immunodeficiency virus infectious disease; mRNA:increased expression:Anterior cingulate PMID:23314923|REF_RGD_ID:127285026 12300377 EPHB2 EPH receptor B2 gene DOID:3525 middle cerebral artery infarction ISO RGD:1564232 D RGD:9068941 20210625 RGD mRNA,protein:increased expression: cortex, cerebral cortex subventricular zone PMID:16321245|REF_RGD_ID:1642069 12300377 EPHB2 EPH receptor B2 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1617631 D RGD:9068941 20210625 RGD PMID:16321245|REF_RGD_ID:1642069 12300377 EPHB2 EPH receptor B2 gene DOID:5082 liver cirrhosis ameliorates ISO RGD:1617631 D RGD:9068941 20210625 RGD associated with malaria; PMID:25784101|REF_RGD_ID:127285023 12300377 EPHB2 EPH receptor B2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1605126 D RGD:9068941 20210625 RGD mRNA:decreased expression:Anterior cingulate PMID:23314923|REF_RGD_ID:127285026 12300377 EPHB2 EPH receptor B2 gene DOID:630 genetic disease ISO RGD:1605126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300377 EPHB2 EPH receptor B2 gene DOID:8577 ulcerative colitis ameliorates ISO RGD:1564232 D RGD:9068941 20210625 RGD PMID:33722292|REF_RGD_ID:127285641 12300377 EPHB2 EPH receptor B2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1564232 D RGD:9068941 20210702 RGD PMID:12944508|REF_RGD_ID:127285804 12300377 EPHB2 EPH receptor B2 gene DOID:9000039 Spinal Cord Injuries ameliorates ISO RGD:1564232 D RGD:9068941 20210625 RGD PMID:33794069|REF_RGD_ID:127285659 12300377 EPHB2 EPH receptor B2 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:1564232 D RGD:9068941 20210625 RGD mRNA,protein:increased expression:dorsal root ganglion PMID:32149862|REF_RGD_ID:127285658 12300377 EPHB2 EPH receptor B2 gene DOID:9001471 Anorectal Malformations ISO RGD:1564232 D RGD:9068941 20210625 RGD mRNA,protein:decreased expression:embryonic cloaca, urorectal septum PMID:19302865|REF_RGD_ID:127285623 12300377 EPHB2 EPH receptor B2 gene DOID:9004298 Prostate Cancer/Brain Cancer Susceptibility ISO RGD:1605126 D RGD:7240710 20230517 OMIM 12300377 EPHB2 EPH receptor B2 gene DOID:9004298 Prostate Cancer/Brain Cancer Susceptibility ISO RGD:1605126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer/brain cancer susceptibility PMID:15300251|PMID:16155194|PMID:25741868|PMID:28492532 12300377 EPHB2 EPH receptor B2 gene DOID:9005834 Ependymomas ISO RGD:1605126 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075792 12300377 EPHB2 EPH receptor B2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1605126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12300377 EPHB2 EPH receptor B2 gene DOID:9007718 Platelet-Type Bleeding Disorder 22 ISO RGD:1605126 D RGD:7240710 20230517 OMIM 12300377 EPHB2 EPH receptor B2 gene DOID:9007718 Platelet-Type Bleeding Disorder 22 ISO RGD:1605126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 22 PMID:30213874 12300377 EPHB2 EPH receptor B2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1605126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:18682749 12300377 EPHB2 EPH receptor B2 gene DOID:9008452 Candidemia exacerbates ISO RGD:1617631 D RGD:9068941 20210604 RGD PMID:33685996|REF_RGD_ID:127229905 12300377 EPHB2 EPH receptor B2 gene DOID:9008820 Visceral Pain ameliorates ISO RGD:1617631 D RGD:9068941 20210625 RGD PMID:33880135|REF_RGD_ID:127285657 12300377 EPHB2 EPH receptor B2 gene DOID:9778 irritable bowel syndrome ISO RGD:1564232 D RGD:9068941 20210604 RGD associated with trichuriasis;protein:increased expression:colonic muscularis: PMID:31601124|REF_RGD_ID:127229906 12300377 EPHB2 EPH receptor B2 gene DOID:9778 irritable bowel syndrome ameliorates ISO RGD:1564232 D RGD:9068941 20210604 RGD PMID:31601124|REF_RGD_ID:127229906 12300400 ISLR2 immunoglobulin superfamily containing leucine rich repeat 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605977 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12300400 ISLR2 immunoglobulin superfamily containing leucine rich repeat 2 gene DOID:2717 Bloom syndrome ISO RGD:1605977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12300400 ISLR2 immunoglobulin superfamily containing leucine rich repeat 2 gene DOID:5419 schizophrenia ISO RGD:1605977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12300400 ISLR2 immunoglobulin superfamily containing leucine rich repeat 2 gene DOID:630 genetic disease ISO RGD:1605977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300400 ISLR2 immunoglobulin superfamily containing leucine rich repeat 2 gene DOID:9256 colorectal cancer ISO RGD:1605977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12300423 ABCG1 ATP binding cassette subfamily G member 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:732853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12300423 ABCG1 ATP binding cassette subfamily G member 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:732853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12300423 ABCG1 ATP binding cassette subfamily G member 1 gene DOID:630 genetic disease ISO RGD:732853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300423 ABCG1 ATP binding cassette subfamily G member 1 gene DOID:783 end stage renal disease ISO RGD:732853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 12300423 ABCG1 ATP binding cassette subfamily G member 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:732853 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12300423 ABCG1 ATP binding cassette subfamily G member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12300423 ABCG1 ATP binding cassette subfamily G member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12300423 ABCG1 ATP binding cassette subfamily G member 1 gene DOID:9004657 Weight Gain ISO RGD:732853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17194745 12300423 ABCG1 ATP binding cassette subfamily G member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12300423 ABCG1 ATP binding cassette subfamily G member 1 gene DOID:9263 homocystinuria ISO RGD:732853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12300423 ABCG1 ATP binding cassette subfamily G member 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:732853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12300445 H2BC15 H2B clustered histone 15 gene DOID:630 genetic disease ISO RGD:1353528 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300445 H2BC15 H2B clustered histone 15 gene DOID:9006342 Tessadori-van Haaften Neurodevelopmental Syndrome 4 ISO RGD:1353528 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tessadori-Van Haaften neurodevelopmental syndrome 4 PMID:35202563 12300445 H2BC15 H2B clustered histone 15 gene DOID:9008939 Breast Neoplasms ISO RGD:1353528 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 12300453 CERKL ceramide kinase like gene DOID:0050572 cone-rod dystrophy ISO RGD:1346381 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:14681825|PMID:15708351|PMID:19578027|PMID:21151602|PMID:22164218|PMID:221642182|PMID:24043777|PMID:24123366|PMID:24625443|PMID:24705292|PMID:25097241|PMID:25741868|PMID:25999674|PMID:28041643|PMID:28492532|PMID:30718709 12300453 CERKL ceramide kinase like gene DOID:0050795 cone dystrophy ISO RGD:1346381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:14681825|PMID:15708351|PMID:16199547|PMID:19578027|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23591405|PMID:24043777|PMID:24123366|PMID:24625443|PMID:24705292|PMID:25097241|PMID:25741868|PMID:25999674|PMID:28041643|PMID:28492532|PMID:28838317|PMID:30718709 12300453 CERKL ceramide kinase like gene DOID:0050817 Stargardt disease ISO RGD:1346381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:14681825|PMID:16199547|PMID:23591405|PMID:24043777|PMID:27813578|PMID:28492532 12300453 CERKL ceramide kinase like gene DOID:0110368 retinitis pigmentosa 26 ISO RGD:1346381 D RGD:7240710 20180130 OMIM 12300453 CERKL ceramide kinase like gene DOID:0110368 retinitis pigmentosa 26 ISO RGD:1346381 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 26 PMID:14681825|PMID:15708351|PMID:16199547|PMID:17576681|PMID:18055789|PMID:18978954|PMID:19501188|PMID:19578027|PMID:19667359|PMID:20554613|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23591405|PMID:23661369|PMID:24043777|PMID:24123366|PMID:24498393|PMID:24625443|PMID:24705292|PMID:24735978|PMID:25097241|PMID:25356976|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26355662|PMID:26766544|PMID:27208204|PMID:27898983|PMID:28041643|PMID:28130426|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29068140|PMID:29555955|PMID:30029497|PMID:30337596|PMID:30718709|PMID:31054281|PMID:31106028|PMID:31456290|PMID:31816670|PMID:33090715|PMID:33322828|PMID:33749171|PMID:34315337|PMID:9536098 12300453 CERKL ceramide kinase like gene DOID:10584 retinitis pigmentosa ISO RGD:1346381 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:14681825|PMID:15708351|PMID:17576681|PMID:20554613|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23105016|PMID:23591405|PMID:24043777|PMID:24123366|PMID:24498393|PMID:24625443|PMID:25097241|PMID:25342276|PMID:25741868|PMID:25999674|PMID:26355662|PMID:28041643|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29068140|PMID:30054919|PMID:30718709|PMID:31456290|PMID:32531858|PMID:9536098 12300453 CERKL ceramide kinase like gene DOID:10584 retinitis pigmentosa ISO RGD:1346381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14681825|PMID:15708351|PMID:16199547|PMID:17576681|PMID:18055789|PMID:18978954|PMID:19578027|PMID:20554613|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23105016|PMID:23591405|PMID:24043777|PMID:24123366|PMID:24498393|PMID:24547929|PMID:24625443|PMID:24705292|PMID:25097241|PMID:25342276|PMID:25741868|PMID:25999674|PMID:26355662|PMID:27208204|PMID:28041643|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29068140|PMID:30054919|PMID:30718709|PMID:31456290|PMID:31816670|PMID:32531858|PMID:33322828|PMID:33749171|PMID:9536098 12300453 CERKL ceramide kinase like gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:1346381 D RGD:9068941 20200609 RGD DNA:mutation:exon PMID:14681825|REF_RGD_ID:1600829 12300453 CERKL ceramide kinase like gene DOID:4448 macular degeneration ISO RGD:1346381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25741868 12300453 CERKL ceramide kinase like gene DOID:630 genetic disease ISO RGD:1346381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12300453 CERKL ceramide kinase like gene DOID:8501 fundus dystrophy ISO RGD:1346381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:14681825|PMID:15708351|PMID:18978954|PMID:19501188|PMID:19578027|PMID:20554613|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23591405|PMID:23661369|PMID:24043777|PMID:24123366|PMID:24498393|PMID:24625443|PMID:24705292|PMID:24735978|PMID:25097241|PMID:25356976|PMID:25741868|PMID:25999674|PMID:27208204|PMID:28041643|PMID:28130426|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29068140|PMID:30718709|PMID:33322828|PMID:34315337 12300469 LOC488947 interferon-induced protein with tetratricopeptide repeats 1 gene DOID:14497 Wolman disease ISO RGD:1312562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:28492532 12300469 LOC488947 interferon-induced protein with tetratricopeptide repeats 1 gene DOID:289 endometriosis ISO RGD:1312562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12300469 LOC488947 interferon-induced protein with tetratricopeptide repeats 1 gene DOID:630 genetic disease ISO RGD:1312562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300469 LOC488947 interferon-induced protein with tetratricopeptide repeats 1 gene DOID:9001488 Human Influenza ISO RGD:1312562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12300475 TSPAN17 tetraspanin 17 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1346680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12300475 TSPAN17 tetraspanin 17 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1346680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12300475 TSPAN17 tetraspanin 17 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1346680 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12300475 TSPAN17 tetraspanin 17 gene DOID:630 genetic disease ISO RGD:1346680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300475 TSPAN17 tetraspanin 17 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1346680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12300475 TSPAN17 tetraspanin 17 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1346680 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 12300497 CFL2 cofilin 2 gene DOID:0060224 atrial fibrillation ISO RGD:1315906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12300497 CFL2 cofilin 2 gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:1315906 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:28492532 12300497 CFL2 cofilin 2 gene DOID:0110934 nemaline myopathy 7 ISO RGD:1315906 D RGD:7240710 20180130 OMIM 12300497 CFL2 cofilin 2 gene DOID:0110934 nemaline myopathy 7 ISO RGD:1315906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 7 PMID:17160903|PMID:17576681|PMID:18414213|PMID:22560515|PMID:24610938|PMID:25741868|PMID:27447704|PMID:28492532|PMID:29457652|PMID:9536098 12300497 CFL2 cofilin 2 gene DOID:3191 nemaline myopathy ISO RGD:1315906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Recessive PMID:28492532 12300497 CFL2 cofilin 2 gene DOID:630 genetic disease ISO RGD:1315906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300497 CFL2 cofilin 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1315906 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12300497 CFL2 cofilin 2 gene DOID:9005532 Muscle Weakness ISO RGD:1315906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:28492532 12300505 FOXA1 forkhead box A1 gene DOID:0060108 brain glioma disease_progression ISO RGD:1605727 D RGD:9068941 20220331 RGD PMID:23510544|REF_RGD_ID:151665742 12300505 FOXA1 forkhead box A1 gene DOID:10534 stomach cancer ISO RGD:1605727 D RGD:9068941 20220331 RGD protein:decreased expression:stomach PMID:29129808|REF_RGD_ID:151665756 12300505 FOXA1 forkhead box A1 gene DOID:10534 stomach cancer ameliorates ISO RGD:1354161 D RGD:9068941 20220331 RGD PMID:31046116|REF_RGD_ID:151665744 12300505 FOXA1 forkhead box A1 gene DOID:10534 stomach cancer ameliorates ISO RGD:1605727 D RGD:9068941 20220331 RGD PMID:29129808|REF_RGD_ID:151665756 12300505 FOXA1 forkhead box A1 gene DOID:1324 lung cancer disease_progression ISO RGD:1322513 D RGD:9068941 20220407 RGD PMID:31221478|REF_RGD_ID:151665930 12300505 FOXA1 forkhead box A1 gene DOID:1520 colon carcinoma disease_progression ISO RGD:1605727 D RGD:9068941 20220331 RGD PMID:33296605|REF_RGD_ID:151665748 12300505 FOXA1 forkhead box A1 gene DOID:1612 breast cancer disease_progression ISO RGD:1349130 D RGD:9068941 20220407 RGD PMID:27524420|REF_RGD_ID:151665821 12300505 FOXA1 forkhead box A1 gene DOID:1749 squamous cell carcinoma ISO RGD:1605727 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32717239 12300505 FOXA1 forkhead box A1 gene DOID:234 colon adenocarcinoma ISO RGD:1605727 D RGD:9068941 20220331 RGD mRNA:decreased expression:colon PMID:32839292|REF_RGD_ID:151665753 12300505 FOXA1 forkhead box A1 gene DOID:3459 breast carcinoma ameliorates ISO RGD:1349130 D RGD:9068941 20220407 RGD PMID:27524420|REF_RGD_ID:151665821 12300505 FOXA1 forkhead box A1 gene DOID:3748 esophagus squamous cell carcinoma onset ISO RGD:1605727 D RGD:9068941 20220331 RGD PMID:29788741|REF_RGD_ID:151665759 12300505 FOXA1 forkhead box A1 gene DOID:3748 esophagus squamous cell carcinoma onset ISO RGD:1605727 D RGD:9068941 20220331 RGD DNA:SNPs: :rs12894364 C>T, rs2145146 C>A (human) PMID:27050876|REF_RGD_ID:151665743 12300505 FOXA1 forkhead box A1 gene DOID:3905 lung carcinoma ameliorates ISO RGD:1605727 D RGD:9068941 20220407 RGD PMID:31221478|REF_RGD_ID:151665930 12300505 FOXA1 forkhead box A1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605727 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32717239 12300505 FOXA1 forkhead box A1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605727 D RGD:9068941 20220331 RGD mRNA:increased expression:lung PMID:26909612|REF_RGD_ID:151665747 12300505 FOXA1 forkhead box A1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1605727 D RGD:9068941 20220407 RGD PMID:26658322|REF_RGD_ID:11554787 12300505 FOXA1 forkhead box A1 gene DOID:3910 lung adenocarcinoma ISO RGD:1605727 D RGD:9068941 20220407 RGD mRNA:increased expression:lung PMID:12234996|PMID:29072684|REF_RGD_ID:151665758|REF_RGD_ID:151665822 12300505 FOXA1 forkhead box A1 gene DOID:3910 lung adenocarcinoma ISO RGD:1605727 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34254728 12300505 FOXA1 forkhead box A1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1605727 D RGD:9068941 20220331 RGD protein:increased expression:esophagus PMID:12234996|REF_RGD_ID:151665758 12300505 FOXA1 forkhead box A1 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:1605727 D RGD:9068941 20220331 RGD PMID:22383183|REF_RGD_ID:151665760 12300505 FOXA1 forkhead box A1 gene DOID:630 genetic disease ISO RGD:1605727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300505 FOXA1 forkhead box A1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1605727 D RGD:9068941 20220331 RGD PMID:25965836|REF_RGD_ID:11054501 12300505 FOXA1 forkhead box A1 gene DOID:684 hepatocellular carcinoma sexual_dimorphism ISO RGD:1605727 D RGD:9068941 20220407 RGD protein:decreased expression:liver PMID:29208003|REF_RGD_ID:151665820 12300505 FOXA1 forkhead box A1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1605727 D RGD:9068941 20220331 RGD DNA:VNTR, SNPs, haplotypes:multiple: PMID:31400761|REF_RGD_ID:151665752 12300505 FOXA1 forkhead box A1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605727 D RGD:9068941 20220331 RGD associated with lung non-small cell carcinoma; mRNA:increased expression: : PMID:29115441|REF_RGD_ID:151665751 12300505 FOXA1 forkhead box A1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605727 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism PMID:22610119|PMID:26457646|PMID:29295717|PMID:29610475|PMID:32690948 12300505 FOXA1 forkhead box A1 gene DOID:9004610 Acute Lung Injury ISO RGD:2807 D RGD:9068941 20220331 RGD mRNA,protein:increased expression:lung PMID:19649697|REF_RGD_ID:151665511 12300505 FOXA1 forkhead box A1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1605727 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12300505 FOXA1 forkhead box A1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1605727 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32717239 12300505 FOXA1 forkhead box A1 gene DOID:9008138 Ductal Carcinoma ISO RGD:1605727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 12300505 FOXA1 forkhead box A1 gene DOID:9008939 Breast Neoplasms ISO RGD:1605727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23001124 12300505 FOXA1 forkhead box A1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1605727 D RGD:9068941 20220331 RGD PMID:27484093|PMID:31081047|REF_RGD_ID:151665746|REF_RGD_ID:151665754 12300505 FOXA1 forkhead box A1 gene DOID:9452 fatty liver disease ISO RGD:1605727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24469900 12300513 RFFL ring finger and FYVE like domain containing E3 ubiquitin protein ligase gene DOID:10763 hypertension ISO RGD:727916 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart PMID:21357277|REF_RGD_ID:13442502 12300513 RFFL ring finger and FYVE like domain containing E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:1605590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300513 RFFL ring finger and FYVE like domain containing E3 ubiquitin protein ligase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12300543 SKA1 spindle and kinetochore associated complex subunit 1 gene DOID:0080600 COVID-19 ISO RGD:1321886 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12300543 SKA1 spindle and kinetochore associated complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:1321886 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12300543 SKA1 spindle and kinetochore associated complex subunit 1 gene DOID:630 genetic disease ISO RGD:1321886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300543 SKA1 spindle and kinetochore associated complex subunit 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1321886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12300553 CYP4B1 cytochrome P450 family 4 subfamily B member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736540 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12300553 CYP4B1 cytochrome P450 family 4 subfamily B member 1 gene DOID:11054 urinary bladder cancer ISO RGD:736540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18713828 12300553 CYP4B1 cytochrome P450 family 4 subfamily B member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 12300553 CYP4B1 cytochrome P450 family 4 subfamily B member 1 gene DOID:630 genetic disease ISO RGD:736540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300575 WHAMM WASP homolog associated with actin, golgi membranes and microtubules gene DOID:13938 amenorrhea ISO RGD:1606472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12300575 WHAMM WASP homolog associated with actin, golgi membranes and microtubules gene DOID:2717 Bloom syndrome ISO RGD:1606472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12300575 WHAMM WASP homolog associated with actin, golgi membranes and microtubules gene DOID:5426 primary ovarian insufficiency ISO RGD:1606472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12300575 WHAMM WASP homolog associated with actin, golgi membranes and microtubules gene DOID:630 genetic disease ISO RGD:1606472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300575 WHAMM WASP homolog associated with actin, golgi membranes and microtubules gene DOID:9256 colorectal cancer ISO RGD:1606472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12300591 CCNK cyclin K gene DOID:630 genetic disease ISO RGD:1317544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300591 CCNK cyclin K gene DOID:9009238 INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES ISO RGD:1317544 D RGD:7240710 20190315 OMIM 12300591 CCNK cyclin K gene DOID:9009238 INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES ISO RGD:1317544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with hypertelorism and distinctive facies PMID:25741868|PMID:30122539 12300611 RPTN repetin gene DOID:0111940 immunodeficiency 42 ISO RGD:1605586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12300611 RPTN repetin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12300611 RPTN repetin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605586 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12300611 RPTN repetin gene DOID:1540 parathyroid carcinoma ISO RGD:1605586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12300611 RPTN repetin gene DOID:5812 MHC class II deficiency ISO RGD:1605586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12300611 RPTN repetin gene DOID:630 genetic disease ISO RGD:1605586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300611 RPTN repetin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12300620 ADI1 acireductone dioxygenase 1 gene DOID:0111881 Diamond-Blackfan anemia 8 ISO RGD:1602478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 PMID:28492532 12300620 ADI1 acireductone dioxygenase 1 gene DOID:630 genetic disease ISO RGD:1602478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300620 ADI1 acireductone dioxygenase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1602478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17786183 12300621 DPPA5 developmental pluripotency associated 5 gene DOID:10487 Hirschsprung's disease ISO RGD:1344123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 12300621 DPPA5 developmental pluripotency associated 5 gene DOID:3659 sialuria ISO RGD:1344123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 12300621 DPPA5 developmental pluripotency associated 5 gene DOID:630 genetic disease ISO RGD:1344123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300661 SPINK8 serine peptidase inhibitor Kazal type 8 (putative) gene DOID:630 genetic disease ISO RGD:1606051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300661 SPINK8 serine peptidase inhibitor Kazal type 8 (putative) gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1606051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12300680 DCAF16 DDB1 and CUL4 associated factor 16 gene DOID:630 genetic disease ISO RGD:1603212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300727 NPR2 natriuretic peptide receptor 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:733765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12300727 NPR2 natriuretic peptide receptor 2 gene DOID:0070316 Miura type epiphyseal chondrodysplasia ISO RGD:733765 D RGD:7240710 20180130 OMIM 12300727 NPR2 natriuretic peptide receptor 2 gene DOID:0070316 Miura type epiphyseal chondrodysplasia ISO RGD:733765 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Tall stature-scoliosis-macrodactyly of the great toes syndrome PMID:22870295|PMID:23827346|PMID:24057292|PMID:24259409|PMID:25741868|PMID:30544148|PMID:32282051 12300727 NPR2 natriuretic peptide receptor 2 gene DOID:0080006 bone development disease ISO RGD:736630 D RGD:9068941 20220825 MouseDO 12300727 NPR2 natriuretic peptide receptor 2 gene DOID:0080049 acromesomelic dysplasia ISO RGD:733765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia PMID:28492532 12300727 NPR2 natriuretic peptide receptor 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:733765 D RGD:7240710 20180130 OMIM 12300727 NPR2 natriuretic peptide receptor 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:733765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:15146390|PMID:15572448|PMID:16199547|PMID:16384845|PMID:17576681|PMID:18945719|PMID:22691581|PMID:23065701|PMID:24001744|PMID:24471569|PMID:25703509|PMID:25741868|PMID:25959430|PMID:26075495|PMID:26284228|PMID:26567084|PMID:26980729|PMID:27994189|PMID:28492532|PMID:30359775|PMID:30408610|PMID:30602027|PMID:31960617|PMID:31990356|PMID:32506268|PMID:33288834|PMID:34008892|PMID:34217350|PMID:9536098 12300727 NPR2 natriuretic peptide receptor 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:733765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12300727 NPR2 natriuretic peptide receptor 2 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:733765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12300727 NPR2 natriuretic peptide receptor 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:733765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12300727 NPR2 natriuretic peptide receptor 2 gene DOID:1059 intellectual disability ISO RGD:733765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12300727 NPR2 natriuretic peptide receptor 2 gene DOID:10825 essential hypertension ISO RGD:733765 D RGD:9068941 20200609 RGD DNA:repeat:intron:IVS2+150(GT)10-11 (human) PMID:10082481|REF_RGD_ID:1580772 12300727 NPR2 natriuretic peptide receptor 2 gene DOID:4480 achondroplasia ISO RGD:736630 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L885R (mouse) PMID:15722353|REF_RGD_ID:1580771 12300727 NPR2 natriuretic peptide receptor 2 gene DOID:4480 achondroplasia ISO RGD:736630 D RGD:9068941 20220825 MouseDO OMIM:100800 12300727 NPR2 natriuretic peptide receptor 2 gene DOID:630 genetic disease ISO RGD:733765 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12300727 NPR2 natriuretic peptide receptor 2 gene DOID:9000342 Familial Focal Epilepsy, with Variable Foci 2 ISO RGD:733765 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 2 PMID:25387261|PMID:25741868|PMID:26633542|PMID:30359775|PMID:30408610|PMID:32720985 12300727 NPR2 natriuretic peptide receptor 2 gene DOID:9001915 SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES ISO RGD:733765 D RGD:7240710 20180130 OMIM 12300727 NPR2 natriuretic peptide receptor 2 gene DOID:9001915 SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES ISO RGD:733765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short stature with nonspecific skeletal abnormalities PMID:15146390|PMID:15572448|PMID:16384845|PMID:22691581|PMID:24001744|PMID:24471569|PMID:25741868|PMID:26075495|PMID:27994189|PMID:28492532|PMID:30602027|PMID:31960617|PMID:31990356 12300727 NPR2 natriuretic peptide receptor 2 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:733765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12300727 NPR2 natriuretic peptide receptor 2 gene DOID:9007661 Dwarfism ISO RGD:733765 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Disproportionate short stature | ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:35741827 12300727 NPR2 natriuretic peptide receptor 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:733765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome 12300727 NPR2 natriuretic peptide receptor 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:733765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 12300727 NPR2 natriuretic peptide receptor 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:733765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12300727 NPR2 natriuretic peptide receptor 2 gene DOID:9870 galactosemia ISO RGD:733765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12300770 COL14A1 collagen type XIV alpha 1 chain gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1314064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12300770 COL14A1 collagen type XIV alpha 1 chain gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1314064 D RGD:9068941 20220331 RGD DNA:hypermethylation PMID:25050929|REF_RGD_ID:151665741 12300770 COL14A1 collagen type XIV alpha 1 chain gene DOID:630 genetic disease ISO RGD:1314064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300770 COL14A1 collagen type XIV alpha 1 chain gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1314064 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12300831 PLK4 polo like kinase 4 gene DOID:0080105 microcephaly and chorioretinopathy 1 ISO RGD:1313392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12300831 PLK4 polo like kinase 4 gene DOID:0080106 microcephaly and chorioretinopathy 2 ISO RGD:1313392 D RGD:7240710 20180130 OMIM 12300831 PLK4 polo like kinase 4 gene DOID:0080106 microcephaly and chorioretinopathy 2 ISO RGD:1313392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 2 PMID:17576681|PMID:25320347|PMID:25344692|PMID:25741868|PMID:28492532|PMID:30842647|PMID:9536098 12300831 PLK4 polo like kinase 4 gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1313392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:19177532|PMID:28492532 12300831 PLK4 polo like kinase 4 gene DOID:10907 microcephaly ISO RGD:1313392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12300831 PLK4 polo like kinase 4 gene DOID:219 colon cancer ISO RGD:1313392 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:26439168|REF_RGD_ID:11075990 12300831 PLK4 polo like kinase 4 gene DOID:3007 breast ductal carcinoma ISO RGD:1313392 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:26439168|REF_RGD_ID:11075990 12300831 PLK4 polo like kinase 4 gene DOID:630 genetic disease ISO RGD:1313392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12300831 PLK4 polo like kinase 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1313392 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:21324136|REF_RGD_ID:27226690 12300831 PLK4 polo like kinase 4 gene DOID:684 hepatocellular carcinoma sexual_dimorphism ISO RGD:1313393 D RGD:9068941 20200609 RGD PMID:21324136|REF_RGD_ID:27226690 12300831 PLK4 polo like kinase 4 gene DOID:9002525 Hereditary Eye Diseases ISO RGD:1313392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25344692 12300831 PLK4 polo like kinase 4 gene DOID:9007661 Dwarfism ISO RGD:1313392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25344692 12300851 SH3BP5 SH3 domain binding protein 5 gene DOID:0060417 3p deletion syndrome ISO RGD:1605295 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12300851 SH3BP5 SH3 domain binding protein 5 gene DOID:630 genetic disease ISO RGD:1605295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300851 SH3BP5 SH3 domain binding protein 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1605295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 12300874 NSMAF neutral sphingomyelinase activation associated factor gene DOID:630 genetic disease ISO RGD:1352100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300908 PRMT2 protein arginine methyltransferase 2 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1605435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 12300908 PRMT2 protein arginine methyltransferase 2 gene DOID:12849 autistic disorder ISO RGD:1605435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12300908 PRMT2 protein arginine methyltransferase 2 gene DOID:2841 asthma ISO RGD:1565519 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, spleen PMID:20423833|REF_RGD_ID:9491823 12300908 PRMT2 protein arginine methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1605435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300923 PLA2G6 phospholipase A2 group VI gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:732454 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12300923 PLA2G6 phospholipase A2 group VI gene DOID:0050952 spastic ataxia ISO RGD:732454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12300923 PLA2G6 phospholipase A2 group VI gene DOID:0060900 Parkinson's disease 14 ISO RGD:732454 D RGD:7240710 20180130 OMIM 12300923 PLA2G6 phospholipase A2 group VI gene DOID:0060900 Parkinson's disease 14 ISO RGD:732454 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive Parkinson disease 14 PMID:16783378|PMID:18570303|PMID:18799783|PMID:18981035|PMID:20186954|PMID:20619503|PMID:20669327|PMID:20886109|PMID:20938027|PMID:21368765|PMID:21700586|PMID:21812034|PMID:22213678|PMID:23182313|PMID:24088041|PMID:25660576|PMID:25741868|PMID:26001724|PMID:26196026|PMID:26467025|PMID:26633545|PMID:26668131|PMID:26755131|PMID:27268037|PMID:27942883|PMID:28492532|PMID:29395073|PMID:29859652|PMID:29913018|PMID:30065071|PMID:30232368|PMID:30302010|PMID:32581362|PMID:32707456|PMID:32771225|PMID:32860008|PMID:33279242|PMID:34622992 12300923 PLA2G6 phospholipase A2 group VI gene DOID:0070338 cerebellar hypoplasia ISO RGD:732454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:16783378|PMID:32581362 12300923 PLA2G6 phospholipase A2 group VI gene DOID:0090036 myoclonic dystonia 26 ISO RGD:732454 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12300923 PLA2G6 phospholipase A2 group VI gene DOID:0090056 dystonia 12 ISO RGD:732454 D RGD:9068941 20200609 RGD DNA:missense mutation:p.R632W (human) PMID:19087156|REF_RGD_ID:6482737 12300923 PLA2G6 phospholipase A2 group VI gene DOID:0110734 neurodegeneration with brain iron accumulation IAGP D RGD:12801476 20210603 OMIA Neuroaxonal dystrophy, PLA2G6-related PMID:8583759|PMID:17984592|PMID:19176506|PMID:17552463|PMID:17543020|PMID:28107443|PMID:33292730 12300923 PLA2G6 phospholipase A2 group VI gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:732454 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Iron accumulation in brain | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:16783378|PMID:17033970|PMID:18359254|PMID:18414213|PMID:18443314|PMID:18570303|PMID:18799783|PMID:18981035|PMID:19087156|PMID:19138334|PMID:19893029|PMID:20301718|PMID:20584031|PMID:20619503|PMID:20669327|PMID:20886109|PMID:20947703|PMID:22213678|PMID:22442204|PMID:22934738|PMID:23685560|PMID:24033266|PMID:24108619|PMID:24130795|PMID:24252552|PMID:24628589|PMID:24745848|PMID:24870368|PMID:25164370|PMID:25326635|PMID:25326637|PMID:25558065|PMID:25741868|PMID:26196026|PMID:26467025|PMID:26633542|PMID:26668131|PMID:2668131|PMID:26829737|PMID:27081553|PMID:27127721|PMID:27146152|PMID:27196560|PMID:27268037|PMID:27378808|PMID:27516098|PMID:28492532|PMID:28714225|PMID:28716262|PMID:29108286|PMID:29395073|PMID:29454663|PMID:29472584|PMID:29859652|PMID:29915382|PMID:30120687|PMID:30340910|PMID:30619057|PMID:31496990|PMID:31516627|PMID:32183746|PMID:32357911|PMID:32707456|PMID:32771225|PMID:32860008|PMID:33050356|PMID:33550528|PMID:34168672|PMID:35122944|PMID:35247231 12300923 PLA2G6 phospholipase A2 group VI gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:732454 D RGD:7240710 20180130 OMIM 12300923 PLA2G6 phospholipase A2 group VI gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:732454 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy | ClinVar Annotator: match by term: PLA2G6-associated neurodegeneration PMID:16199547|PMID:16783378|PMID:17033970|PMID:17576681|PMID:18359254|PMID:18414213|PMID:18443314|PMID:18570303|PMID:18799783|PMID:18981035|PMID:19087156|PMID:19138334|PMID:19893029|PMID:20186954|PMID:20226704|PMID:20301718|PMID:20584031|PMID:20619503|PMID:20669327|PMID:20886109|PMID:20938027|PMID:20947703|PMID:21368765|PMID:21520282|PMID:21700586|PMID:21812034|PMID:22213678|PMID:22442204|PMID:22934738|PMID:23182313|PMID:23685560|PMID:24033266|PMID:24088041|PMID:24108619|PMID:24130795|PMID:24252552|PMID:24628589|PMID:24745848|PMID:24870368|PMID:25164370|PMID:25174650|PMID:25326635|PMID:25326637|PMID:25348461|PMID:25601130|PMID:25634434|PMID:25640679|PMID:25660576|PMID:25741868|PMID:26001724|PMID:26196026|PMID:26467025|PMID:26539891|PMID:26633542|PMID:26633545|PMID:26668131|PMID:2668131|PMID:26755131|PMID:26829737|PMID:27081553|PMID:27127721|PMID:27146152|PMID:27196560|PMID:27268037|PMID:27294386|PMID:27378808|PMID:27395053|PMID:27516098|PMID:27709683|PMID:27882168|PMID:27942883|PMID:28150298|PMID:28295203|PMID:28492532|PMID:28549837|PMID:28714225|PMID:28716262|PMID:28821231|PMID:29108286|PMID:29124790|PMID:29159939|PMID:29395073|PMID:29454663|PMID:29472584|PMID:29859652|PMID:29913018|PMID:29915382|PMID:30042723|PMID:30065071|PMID:30120687|PMID:30169597|PMID:30232368|PMID:30302010|PMID:30340910|PMID:30537300|PMID:30619057|PMID:30772976|PMID:31493945|PMID:31496990|PMID:31506141|PMID:31516627|PMID:31548400|PMID:31689548|PMID:32183746|PMID:32357911|PMID:32404165|PMID:32707456|PMID:32771225|PMID:32860008|PMID:33098801|PMID:33279242|PMID:33361639|PMID:33547378|PMID:33550528|PMID:34168672|PMID:34272103|PMID:34622992|PMID:35122944|PMID:35247231|PMID:6783378|PMID:9536098 12300923 PLA2G6 phospholipase A2 group VI gene DOID:0110736 neurodegeneration with brain iron accumulation 2B ISO RGD:732454 D RGD:7240710 20180130 OMIM 12300923 PLA2G6 phospholipase A2 group VI gene DOID:0110736 neurodegeneration with brain iron accumulation 2B ISO RGD:732454 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 2B PMID:16783378|PMID:17033970|PMID:18359254|PMID:18414213|PMID:18443314|PMID:18570303|PMID:18799783|PMID:18981035|PMID:19138334|PMID:20301718|PMID:20584031|PMID:20619503|PMID:20669327|PMID:20886109|PMID:22213678|PMID:22934738|PMID:24745848|PMID:24870368|PMID:25164370|PMID:25326635|PMID:25741868|PMID:26196026|PMID:26668131|PMID:2668131|PMID:26755131|PMID:27146152|PMID:27196560|PMID:27268037|PMID:27378808|PMID:27516098|PMID:28492532|PMID:28716262|PMID:29472584|PMID:29915382|PMID:30340910|PMID:30619057|PMID:30772976|PMID:31516627|PMID:31548400|PMID:32581362|PMID:32707456|PMID:32771225|PMID:32860008|PMID:34168672|PMID:34622992|PMID:35122944 12300923 PLA2G6 phospholipase A2 group VI gene DOID:10247 pleurisy ISO RGD:628867 D RGD:9068941 20200609 RGD PMID:15003994|REF_RGD_ID:6482741 12300923 PLA2G6 phospholipase A2 group VI gene DOID:11723 Duchenne muscular dystrophy ISO RGD:732454 D RGD:9068941 20200609 RGD PMID:22934738|REF_RGD_ID:12910703 12300923 PLA2G6 phospholipase A2 group VI gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732454 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12300923 PLA2G6 phospholipase A2 group VI gene DOID:12849 autistic disorder ISO RGD:732454 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Autism PMID:16783378|PMID:18359254|PMID:18414213|PMID:18799783|PMID:20619503|PMID:20886109|PMID:24745848|PMID:25326635|PMID:25741868|PMID:27378808|PMID:28492532|PMID:28716262|PMID:30340910 12300923 PLA2G6 phospholipase A2 group VI gene DOID:1289 neurodegenerative disease ISO RGD:732455 D RGD:9068941 20200609 RGD PMID:24919816|REF_RGD_ID:12910702 12300923 PLA2G6 phospholipase A2 group VI gene DOID:14330 Parkinson's disease no_association ISO RGD:732454 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P806R (c.2417C>G) (human) PMID:21368765|REF_RGD_ID:6482734 12300923 PLA2G6 phospholipase A2 group VI gene DOID:14330 Parkinson's disease onset ISO RGD:732454 D RGD:9068941 20200609 RGD DNA:missense muations, nonsense mutation: :p.F72L, p.Q452X, p.R635Q (human) PMID:20938027|REF_RGD_ID:6482733 12300923 PLA2G6 phospholipase A2 group VI gene DOID:2367 neuroaxonal dystrophy ISO RGD:732454 D RGD:9068941 20200609 RGD DNA:deletion:cds:p.V691del (human) PMID:17033970|REF_RGD_ID:6482740 12300923 PLA2G6 phospholipase A2 group VI gene DOID:2367 neuroaxonal dystrophy ISO RGD:732454 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple PMID:19138334|REF_RGD_ID:6482736 12300923 PLA2G6 phospholipase A2 group VI gene DOID:2367 neuroaxonal dystrophy ISO RGD:732455 D RGD:9068941 20200609 RGD PMID:18305254|REF_RGD_ID:6482739 12300923 PLA2G6 phospholipase A2 group VI gene DOID:2367 neuroaxonal dystrophy ISO RGD:732455 D RGD:9068941 20200609 RGD DNA:insertion:intron (mouse) PMID:22442204|REF_RGD_ID:6482732 12300923 PLA2G6 phospholipase A2 group VI gene DOID:2367 neuroaxonal dystrophy ISO RGD:732455 D RGD:9068941 20200609 RGD DNA:point mutation:cds PMID:19893029|REF_RGD_ID:6482735 12300923 PLA2G6 phospholipase A2 group VI gene DOID:630 genetic disease ISO RGD:732454 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16783378|PMID:17576681|PMID:18359254|PMID:18414213|PMID:18443314|PMID:18570303|PMID:18799783|PMID:19138334|PMID:19893029|PMID:20301718|PMID:20619503|PMID:20886109|PMID:20947703|PMID:22213678|PMID:22442204|PMID:22934738|PMID:24745848|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26633542|PMID:26668131|PMID:2668131|PMID:27127721|PMID:27378808|PMID:28295203|PMID:28492532|PMID:28716262|PMID:29395073|PMID:29454663|PMID:29472584|PMID:29554876|PMID:29859652|PMID:29915382|PMID:30042723|PMID:30120687|PMID:30169597|PMID:30340910|PMID:30619057|PMID:31493945|PMID:33547378|PMID:34168672|PMID:34272103|PMID:35247231|PMID:9536098 12300923 PLA2G6 phospholipase A2 group VI gene DOID:9000039 Spinal Cord Injuries ISO RGD:732455 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:21868473|REF_RGD_ID:6482718 12300923 PLA2G6 phospholipase A2 group VI gene DOID:9002498 Wallerian Degeneration ISO RGD:732455 D RGD:9068941 20200609 RGD PMID:18718965|REF_RGD_ID:6482738 12300923 PLA2G6 phospholipase A2 group VI gene DOID:9002969 Nevus ISO RGD:732454 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578365 12300923 PLA2G6 phospholipase A2 group VI gene DOID:9004320 Karak Syndrome ISO RGD:732454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Karak syndrome PMID:16783378|PMID:19087156|PMID:20619503|PMID:20886109|PMID:25741868|PMID:27127721|PMID:27196560|PMID:29108286|PMID:30619057|PMID:31496990|PMID:32183746|PMID:33550528 12300923 PLA2G6 phospholipase A2 group VI gene DOID:9006534 Nervous System Malformations ISO RGD:732454 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16783378|PMID:18359254|PMID:18414213|PMID:18799783|PMID:20619503|PMID:20886109|PMID:24745848|PMID:25326635|PMID:25741868|PMID:27378808|PMID:28492532|PMID:28716262|PMID:30340910 12300923 PLA2G6 phospholipase A2 group VI gene DOID:9006646 Metabolic Syndrome ISO RGD:628867 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:21172452|REF_RGD_ID:6482748 12300956 FBXL4 F-box and leucine rich repeat protein 4 gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1313923 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:23993193|PMID:24033266|PMID:25741868|PMID:27099744|PMID:27290639|PMID:30771478|PMID:30804983 12300956 FBXL4 F-box and leucine rich repeat protein 4 gene DOID:0080131 mitochondrial DNA depletion syndrome 13 ISO RGD:1313923 D RGD:7240710 20180130 OMIM 12300956 FBXL4 F-box and leucine rich repeat protein 4 gene DOID:0080131 mitochondrial DNA depletion syndrome 13 ISO RGD:1313923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 13 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) PMID:16199547|PMID:23993193|PMID:23993194|PMID:24033266|PMID:24088041|PMID:25326635|PMID:25558065|PMID:25741868|PMID:25868664|PMID:26633545|PMID:27099744|PMID:27182039|PMID:27182309|PMID:27290639|PMID:27743463|PMID:27858371|PMID:28327206|PMID:28492532|PMID:28940506|PMID:30771478|PMID:30804983|PMID:31474762|PMID:32348839|PMID:32576985 12300956 FBXL4 F-box and leucine rich repeat protein 4 gene DOID:3652 Leigh disease ISO RGD:1313923 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:23993194|PMID:25558065|PMID:25741868|PMID:25868664|PMID:27743463|PMID:28492532|PMID:28940506|PMID:30804983 12300956 FBXL4 F-box and leucine rich repeat protein 4 gene DOID:630 genetic disease ISO RGD:1313923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23993193|PMID:23993194|PMID:24033266|PMID:24088041|PMID:25741868|PMID:25868664|PMID:26633545|PMID:27099744|PMID:27290639|PMID:27743463|PMID:28492532|PMID:28940506|PMID:29565416|PMID:30771478|PMID:30804983|PMID:32576985 12300956 FBXL4 F-box and leucine rich repeat protein 4 gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1313923 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalomyopathy PMID:23993194|PMID:25558065|PMID:25741868|PMID:25868664|PMID:27743463|PMID:28492532|PMID:28940506|PMID:30804983 12300969 WNT3A Wnt family member 3A gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1317606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:28492532 12300969 WNT3A Wnt family member 3A gene DOID:1459 hypothyroidism ISO RGD:1308057 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:19233274|REF_RGD_ID:2303791 12300969 WNT3A Wnt family member 3A gene DOID:1540 parathyroid carcinoma ISO RGD:1317606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12300969 WNT3A Wnt family member 3A gene DOID:630 genetic disease ISO RGD:1317606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12300969 WNT3A Wnt family member 3A gene DOID:9004009 Reperfusion Injury ISO RGD:1317606 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23875703 12300969 WNT3A Wnt family member 3A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1317607 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:8065359|PMID:9419423|REF_RGD_ID:2298848|REF_RGD_ID:2298863 12300969 WNT3A Wnt family member 3A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12300969 WNT3A Wnt family member 3A gene DOID:9970 obesity ISO RGD:1317606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28242765 12300980 ZNF507 zinc finger protein 507 gene DOID:630 genetic disease ISO RGD:1315962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300991 FEM1A fem-1 homolog A gene DOID:630 genetic disease ISO RGD:1353975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12300996 LOC489707 carbohydrate sulfotransferase 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1342606 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12300996 LOC489707 carbohydrate sulfotransferase 6 gene DOID:0110989 Joubert syndrome 20 ISO RGD:1342606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 20 PMID:23012439|PMID:27449316|PMID:28492532 12300996 LOC489707 carbohydrate sulfotransferase 6 gene DOID:2565 macular corneal dystrophy IAGP D RGD:12801476 20210603 OMIA Macular corneal dystrophy PMID:26585178|PMID:30701649 12300996 LOC489707 carbohydrate sulfotransferase 6 gene DOID:2565 macular corneal dystrophy ISO RGD:1342606 D RGD:7240710 20180130 OMIM 12300996 LOC489707 carbohydrate sulfotransferase 6 gene DOID:2565 macular corneal dystrophy ISO RGD:1342606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy | ClinVar Annotator: match by term: Macular corneal dystrophy, type II PMID:11017086|PMID:11278593|PMID:11818380|PMID:12824236|PMID:12882775|PMID:14609920|PMID:14735064|PMID:14984470|PMID:15013869|PMID:15652851|PMID:15953452|PMID:16207214|PMID:16568029|PMID:17093400|PMID:17896316|PMID:17962390|PMID:18500531|PMID:19204788|PMID:19337156|PMID:19365571|PMID:19710953|PMID:20539220|PMID:24033266|PMID:24311932|PMID:24926691|PMID:25081284|PMID:25741868|PMID:26604660|PMID:27439461|PMID:28492532|PMID:29221207|PMID:32472422|PMID:33816482|PMID:35985662 12300996 LOC489707 carbohydrate sulfotransferase 6 gene DOID:630 genetic disease ISO RGD:1342606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12301016 STRIP1 striatin interacting protein 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1352338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12301016 STRIP1 striatin interacting protein 1 gene DOID:12849 autistic disorder ISO RGD:1352338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12301016 STRIP1 striatin interacting protein 1 gene DOID:630 genetic disease ISO RGD:1352338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12301041 ST6GALNAC3 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:1345799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:28492532 12301041 ST6GALNAC3 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 gene DOID:630 genetic disease ISO RGD:1345799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12301056 ITIH3 inter-alpha-trypsin inhibitor heavy chain 3 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:732422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12301056 ITIH3 inter-alpha-trypsin inhibitor heavy chain 3 gene DOID:630 genetic disease ISO RGD:732422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12301056 ITIH3 inter-alpha-trypsin inhibitor heavy chain 3 gene DOID:684 hepatocellular carcinoma ISO RGD:732422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 12301057 RAB17 RAB17, member RAS oncogene family gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1346493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12301057 RAB17 RAB17, member RAS oncogene family gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1346493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12301057 RAB17 RAB17, member RAS oncogene family gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1346493 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12301057 RAB17 RAB17, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1346493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12301057 RAB17 RAB17, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1346493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12301057 RAB17 RAB17, member RAS oncogene family gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1346493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12301079 BFSP2 beaded filament structural protein 2 gene DOID:0110239 cataract 12 multiple types ISO RGD:1347093 D RGD:7240710 20180130 OMIM 12301079 BFSP2 beaded filament structural protein 2 gene DOID:0110239 cataract 12 multiple types ISO RGD:1347093 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cataract 12 multiple types PMID:10729115|PMID:12573667|PMID:14638724|PMID:21836522|PMID:25741868|PMID:28492532 12301079 BFSP2 beaded filament structural protein 2 gene DOID:12712 nephronophthisis ISO RGD:1347093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:18371931|PMID:23559409|PMID:28492532 12301079 BFSP2 beaded filament structural protein 2 gene DOID:630 genetic disease ISO RGD:1347093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12301079 BFSP2 beaded filament structural protein 2 gene DOID:83 cataract ISO RGD:1347093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract PMID:25741868 12301079 BFSP2 beaded filament structural protein 2 gene DOID:83 cataract susceptibility ISO RGD:1347093 D RGD:9068941 20200609 RGD protein:missense mutation:exon:p.R287W (human) PMID:10729115|REF_RGD_ID:1600516 12301079 BFSP2 beaded filament structural protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1347093 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay 12301079 BFSP2 beaded filament structural protein 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12301079 BFSP2 beaded filament structural protein 2 gene DOID:9270 alkaptonuria ISO RGD:1347093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12301087 PPP3CC protein phosphatase 3 catalytic subunit gamma gene DOID:10126 keratoconus ISO RGD:1347828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 12301087 PPP3CC protein phosphatase 3 catalytic subunit gamma gene DOID:11054 urinary bladder cancer ISO RGD:1347828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29275364 12301087 PPP3CC protein phosphatase 3 catalytic subunit gamma gene DOID:5419 schizophrenia ISO RGD:1347828 D RGD:9068941 20200609 RGD DNA:snps, haplotype:multiple (human) PMID:12851458|REF_RGD_ID:1358563 12301087 PPP3CC protein phosphatase 3 catalytic subunit gamma gene DOID:5419 schizophrenia ISO RGD:1347828 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:15820226|REF_RGD_ID:13515121 12301087 PPP3CC protein phosphatase 3 catalytic subunit gamma gene DOID:630 genetic disease ISO RGD:1347828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12301087 PPP3CC protein phosphatase 3 catalytic subunit gamma gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1347828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29275364 12301087 PPP3CC protein phosphatase 3 catalytic subunit gamma gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1347828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12301112 TBPL2 TATA-box binding protein like 2 gene DOID:630 genetic disease ISO RGD:1342829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12301123 SELENON selenoprotein N gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1603617 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:11079538|PMID:11528383|PMID:12192640|PMID:12207930|PMID:15668457|PMID:15792869|PMID:16365872|PMID:17365175|PMID:17951086|PMID:18313359|PMID:18414213|PMID:18713863|PMID:19067361|PMID:20301436|PMID:20623375|PMID:21131290|PMID:21670436|PMID:23394784|PMID:24033266|PMID:24988964|PMID:25182138|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:28688748|PMID:30921636|PMID:30932294|PMID:31127727|PMID:31321302 12301123 SELENON selenoprotein N gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1603617 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:11079538|PMID:11528383|PMID:12192640|PMID:12207930|PMID:15122708|PMID:15668457|PMID:15792869|PMID:16365872|PMID:17365175|PMID:17951086|PMID:18313359|PMID:18414213|PMID:18713863|PMID:19067361|PMID:20301436|PMID:20623375|PMID:21131290|PMID:21670436|PMID:23394784|PMID:24033266|PMID:24988964|PMID:25182138|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:28558865|PMID:28688748|PMID:30921636|PMID:30932294|PMID:31127727|PMID:31321302|PMID:7224095 12301123 SELENON selenoprotein N gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1603617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:11079538|PMID:11528383|PMID:12192640|PMID:12207930|PMID:15122708|PMID:15668457|PMID:15792869|PMID:16365872|PMID:17365175|PMID:17951086|PMID:18313359|PMID:18414213|PMID:18713863|PMID:19067361|PMID:20301436|PMID:20623375|PMID:21131290|PMID:21670436|PMID:23394784|PMID:24033266|PMID:24988964|PMID:25182138|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:28558865|PMID:28688748|PMID:30921636|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32746448|PMID:33652732|PMID:7224095 12301123 SELENON selenoprotein N gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1603617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:11079538|PMID:11528383|PMID:12192640|PMID:12207930|PMID:15122708|PMID:15668457|PMID:15792869|PMID:16365872|PMID:17365175|PMID:17951086|PMID:18313359|PMID:18414213|PMID:18713863|PMID:19067361|PMID:20301436|PMID:20623375|PMID:21131290|PMID:21670436|PMID:23394784|PMID:24033266|PMID:24988964|PMID:25182138|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:28558865|PMID:28688748|PMID:30921636|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32746448|PMID:32796131|PMID:33652732|PMID:7224095 12301123 SELENON selenoprotein N gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1603617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 12301123 SELENON selenoprotein N gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1603617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12301123 SELENON selenoprotein N gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:1603617 D RGD:7240710 20180130 OMIM 12301123 SELENON selenoprotein N gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:1603617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy PMID:11079538|PMID:11528383|PMID:1219264|PMID:12192640|PMID:12207930|PMID:15122708|PMID:15668457|PMID:15792869|PMID:16199547|PMID:16365872|PMID:16498447|PMID:16779558|PMID:17365175|PMID:17576681|PMID:17951086|PMID:18313359|PMID:18414213|PMID:18713863|PMID:19067361|PMID:19285539|PMID:19557870|PMID:19763152|PMID:20301436|PMID:20307669|PMID:20623375|PMID:20937510|PMID:21131290|PMID:21520333|PMID:21670436|PMID:22406018|PMID:23394784|PMID:24033266|PMID:24988964|PMID:25182138|PMID:25525159|PMID:25635128|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27066551|PMID:27447704|PMID:27863379|PMID:28357410|PMID:28492532|PMID:28558865|PMID:28688748|PMID:29172004|PMID:29382405|PMID:29669168|PMID:30612914|PMID:30642275|PMID:30921636|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32154989|PMID:32528171|PMID:32746448|PMID:32796131|PMID:32860008|PMID:33184643|PMID:33333461|PMID:33652732|PMID:33762497|PMID:35368679|PMID:7224095|PMID:9536098|PMID:9585610 12301123 SELENON selenoprotein N gene DOID:630 genetic disease ISO RGD:1603617 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12301123 SELENON selenoprotein N gene DOID:9005077 Joint Instability ISO RGD:1603617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joint laxity PMID:25741868|PMID:28492532 12301123 SELENON selenoprotein N gene DOID:9884 muscular dystrophy ISO RGD:1603617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:11079538|PMID:11528383|PMID:12192640|PMID:12207930|PMID:17365175|PMID:17951086|PMID:18313359|PMID:18713863|PMID:19067361|PMID:21670436|PMID:23394784|PMID:24033266|PMID:24988964|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30921636 12301138 CALHM6 calcium homeostasis modulator family member 6 gene DOID:0060163 body dysmorphic disorder ISO RGD:1605771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 12301138 CALHM6 calcium homeostasis modulator family member 6 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1605771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12301138 CALHM6 calcium homeostasis modulator family member 6 gene DOID:1059 intellectual disability ISO RGD:1605771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 12301138 CALHM6 calcium homeostasis modulator family member 6 gene DOID:10907 microcephaly ISO RGD:1605771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 12301138 CALHM6 calcium homeostasis modulator family member 6 gene DOID:1826 epilepsy ISO RGD:1605771 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12301138 CALHM6 calcium homeostasis modulator family member 6 gene DOID:9000495 Tremor ISO RGD:1605771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12301148 MIR214 microRNA 214 gene DOID:10763 hypertension ISO RGD:1347052 D RGD:9068941 20230518 RGD RNA:increased expression:kidney PMID:30049682|REF_RGD_ID:38500245 12301148 MIR214 microRNA 214 gene DOID:9002721 Hypertensive Nephrosclerosis ISO RGD:1347052 D RGD:9068941 20230518 RGD RNA:increased expression:kidney PMID:30049682|REF_RGD_ID:38500245 12301148 MIR214 microRNA mir-214 gene DOID:10763 hypertension treatment ISO RGD:2325548 D RGD:9068941 20220114 RGD PMID:30049682|REF_RGD_ID:38500245 12301148 MIR214 microRNA mir-214 gene DOID:11294 arteriovenous malformation ISO RGD:1347052 D RGD:9068941 20221013 RGD miRNA:increased expression:blood plasma (human) PMID:23051042|REF_RGD_ID:155582214 12301148 MIR214 microRNA mir-214 gene DOID:1540 parathyroid carcinoma ISO RGD:1347052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12301148 MIR214 microRNA mir-214 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1347052 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:27538595 12301148 MIR214 microRNA mir-214 gene DOID:3393 coronary artery disease ISO RGD:1347052 D RGD:9068941 20230202 RGD miRNA:increased expression:blood plasma (human) PMID:25728840|REF_RGD_ID:11056497 12301148 MIR214 microRNA mir-214 gene DOID:4989 pancreatitis ISO RGD:1347052 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12301148 MIR214 microRNA mir-214 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1347052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 12301148 MIR214 microRNA mir-214 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2325548 D RGD:9068941 20220114 RGD PMID:30287503|REF_RGD_ID:38549580 12301148 MIR214 microRNA mir-214 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1347052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12301148 MIR214 microRNA mir-214 gene DOID:9008939 Breast Neoplasms ISO RGD:1347052 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 12301148 MIR214 microRNA mir-214 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12301148 MIR214 microRNA mir-214 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347052 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12301148 Mir214 microRNA 214 gene DOID:1073 renal hypertension ameliorates ISO RGD:2325548 D RGD:9068941 20230518 RGD PMID:30049682|REF_RGD_ID:38500245 12301179 ARHGAP35 Rho GTPase activating protein 35 gene DOID:0060673 Peters anomaly ISO RGD:1603059 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:25741868|PMID:36450800 12301179 ARHGAP35 Rho GTPase activating protein 35 gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1603059 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:25741868 12301179 ARHGAP35 Rho GTPase activating protein 35 gene DOID:10629 microphthalmia ISO RGD:1603059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bilateral microphthalmos | ClinVar Annotator: match by term: Unilateral microphthalmos PMID:25741868|PMID:36450800 12301179 ARHGAP35 Rho GTPase activating protein 35 gene DOID:3910 lung adenocarcinoma ISO RGD:1603059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 12301179 ARHGAP35 Rho GTPase activating protein 35 gene DOID:630 genetic disease ISO RGD:1603059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12301179 ARHGAP35 Rho GTPase activating protein 35 gene DOID:9002049 Anophthalmia ISO RGD:1603059 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anophthalmia PMID:25741868|PMID:36450800 12301179 ARHGAP35 Rho GTPase activating protein 35 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603059 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33057194 12301189 BDKRB2 bradykinin receptor B2 gene DOID:0050700 cardiomyopathy ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10614985 12301189 BDKRB2 bradykinin receptor B2 gene DOID:0060903 thrombosis ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16514058 12301189 BDKRB2 bradykinin receptor B2 gene DOID:10247 pleurisy ISO RGD:10232 D RGD:9068941 20200609 RGD PMID:15316088|REF_RGD_ID:4891029 12301189 BDKRB2 bradykinin receptor B2 gene DOID:10247 pleurisy ISO RGD:2201 D RGD:9068941 20200609 RGD PMID:9208140|REF_RGD_ID:4891041 12301189 BDKRB2 bradykinin receptor B2 gene DOID:10762 portal hypertension ISO RGD:2201 D RGD:9068941 20200609 RGD PMID:19950773|REF_RGD_ID:4891055 12301189 BDKRB2 bradykinin receptor B2 gene DOID:10763 hypertension ISO RGD:2201 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus PMID:12025958|REF_RGD_ID:704378 12301189 BDKRB2 bradykinin receptor B2 gene DOID:10763 hypertension ISO RGD:2201 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:11934804|REF_RGD_ID:4890455 12301189 BDKRB2 bradykinin receptor B2 gene DOID:10763 hypertension ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10614985 12301189 BDKRB2 bradykinin receptor B2 gene DOID:10763 hypertension ISO RGD:737386 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-58T>C (human) PMID:10904024|REF_RGD_ID:4891034 12301189 BDKRB2 bradykinin receptor B2 gene DOID:11446 sciatic neuropathy ISO RGD:2201 D RGD:9068941 20200609 RGD PMID:18182225|REF_RGD_ID:5129227 12301189 BDKRB2 bradykinin receptor B2 gene DOID:1826 epilepsy ISO RGD:2201 D RGD:9068941 20200609 RGD PMID:12746865|REF_RGD_ID:704381 12301189 BDKRB2 bradykinin receptor B2 gene DOID:2224 essential thrombocythemia ISO RGD:737386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 12301189 BDKRB2 bradykinin receptor B2 gene DOID:2841 asthma ISO RGD:2201 D RGD:9068941 20200609 RGD PMID:14727005|REF_RGD_ID:4890454 12301189 BDKRB2 bradykinin receptor B2 gene DOID:2841 asthma ISO RGD:737386 D RGD:9068941 20200609 RGD PMID:8856156|REF_RGD_ID:4891042 12301189 BDKRB2 bradykinin receptor B2 gene DOID:2841 asthma ISO RGD:737386 D RGD:9068941 20200609 RGD protein:increased expression:blood, eosinophil PMID:19038786|REF_RGD_ID:4891028 12301189 BDKRB2 bradykinin receptor B2 gene DOID:2841 asthma onset ISO RGD:737386 D RGD:9068941 20200609 RGD DNA:polymorphism:exon (human) PMID:11517947|REF_RGD_ID:4890456 12301189 BDKRB2 bradykinin receptor B2 gene DOID:3021 acute kidney failure ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24975837 12301189 BDKRB2 bradykinin receptor B2 gene DOID:3070 high grade glioma ISO RGD:2201 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:20080302|REF_RGD_ID:4891047 12301189 BDKRB2 bradykinin receptor B2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737386 D RGD:9068941 20200609 RGD PMID:16600946|REF_RGD_ID:4890451 12301189 BDKRB2 bradykinin receptor B2 gene DOID:3328 temporal lobe epilepsy ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15196965 12301189 BDKRB2 bradykinin receptor B2 gene DOID:4404 occupational dermatitis ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30685357 12301189 BDKRB2 bradykinin receptor B2 gene DOID:4483 rhinitis ISO RGD:737386 D RGD:9068941 20200609 RGD PMID:11149999|PMID:1890650|REF_RGD_ID:4891033|REF_RGD_ID:4891044 12301189 BDKRB2 bradykinin receptor B2 gene DOID:4971 myelofibrosis ISO RGD:737386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis 12301189 BDKRB2 bradykinin receptor B2 gene DOID:4989 pancreatitis ISO RGD:2201 D RGD:9068941 20200609 RGD PMID:7791078|REF_RGD_ID:4891025 12301189 BDKRB2 bradykinin receptor B2 gene DOID:552 pneumonia ISO RGD:10232 D RGD:9068941 20200609 RGD PMID:15021973|REF_RGD_ID:4891030 12301189 BDKRB2 bradykinin receptor B2 gene DOID:5844 myocardial infarction ISO RGD:2201 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:12489796|REF_RGD_ID:704379 12301189 BDKRB2 bradykinin receptor B2 gene DOID:630 genetic disease ISO RGD:737386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12301189 BDKRB2 bradykinin receptor B2 gene DOID:6432 pulmonary hypertension ISO RGD:2201 D RGD:9068941 20200609 RGD PMID:15878794|REF_RGD_ID:4890453 12301189 BDKRB2 bradykinin receptor B2 gene DOID:7148 rheumatoid arthritis ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 12301189 BDKRB2 bradykinin receptor B2 gene DOID:850 lung disease ISO RGD:2201 D RGD:9068941 20200609 RGD Lung Injury associated with Endotoxemia PMID:10702448|REF_RGD_ID:4890457 12301189 BDKRB2 bradykinin receptor B2 gene DOID:9000352 Vascular System Injuries ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16982965 12301189 BDKRB2 bradykinin receptor B2 gene DOID:9000641 Pain ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20152050 12301189 BDKRB2 bradykinin receptor B2 gene DOID:9001371 Eosinophilia ISO RGD:10232 D RGD:9068941 20200609 RGD PMID:10385260|REF_RGD_ID:4891039 12301189 BDKRB2 bradykinin receptor B2 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:10232 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17596525|REF_RGD_ID:2313335 12301189 BDKRB2 bradykinin receptor B2 gene DOID:9002211 Hyperalgesia ISO RGD:2201 D RGD:9068941 20200609 RGD PMID:10188975|REF_RGD_ID:4891040 12301189 BDKRB2 bradykinin receptor B2 gene DOID:9002211 Hyperalgesia ISO RGD:2201 D RGD:9068941 20200609 RGD associated with Diabetic Neuropathy PMID:19300402|REF_RGD_ID:2313332 12301189 BDKRB2 bradykinin receptor B2 gene DOID:9002211 Hyperalgesia ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17989505|PMID:19300402|PMID:19815945 12301189 BDKRB2 bradykinin receptor B2 gene DOID:9002661 Diabetes Complications ISO RGD:10232 D RGD:9068941 20200609 RGD PMID:20479236|REF_RGD_ID:7241550 12301189 BDKRB2 bradykinin receptor B2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:2201 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:12489796|REF_RGD_ID:704379 12301189 BDKRB2 bradykinin receptor B2 gene DOID:9005372 Inflammation ISO RGD:10232 D RGD:9068941 20200609 RGD associated with Asthma PMID:15021973|REF_RGD_ID:4891030 12301189 BDKRB2 bradykinin receptor B2 gene DOID:9005372 Inflammation ISO RGD:2201 D RGD:9068941 20200609 RGD PMID:7791078|REF_RGD_ID:4891025 12301189 BDKRB2 bradykinin receptor B2 gene DOID:9005372 Inflammation ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20152050 12301189 BDKRB2 bradykinin receptor B2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2201 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:12489796|REF_RGD_ID:704379 12301189 BDKRB2 bradykinin receptor B2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2201 D RGD:9068941 20200609 RGD protein:increased expression:hindbrain, spinal cord PMID:16138314|REF_RGD_ID:4890452 12301189 BDKRB2 bradykinin receptor B2 gene DOID:9006024 Hypotension ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1334354|PMID:16321614 12301189 BDKRB2 bradykinin receptor B2 gene DOID:9006024 Hypotension ISO RGD:737386 D RGD:9068941 20200609 RGD PMID:9039147|REF_RGD_ID:4891024 12301189 BDKRB2 bradykinin receptor B2 gene DOID:9006205 Animal Disease Models ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30685357 12301189 BDKRB2 bradykinin receptor B2 gene DOID:9007073 Cough ISO RGD:737386 D RGD:9068941 20200609 RGD DNA:SNP: :rs8012552 (human) PMID:21052031|REF_RGD_ID:4891026 12301189 BDKRB2 bradykinin receptor B2 gene DOID:9007073 Cough ISO RGD:737386 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-58T>C (human) PMID:10904024|REF_RGD_ID:4891034 12301189 BDKRB2 bradykinin receptor B2 gene DOID:9007073 Cough ISO RGD:737386 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:12522467|REF_RGD_ID:4891031 12301189 BDKRB2 bradykinin receptor B2 gene DOID:9007073 Cough no_association ISO RGD:737386 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-58T>C (human) PMID:11699055|REF_RGD_ID:4891032 12301189 BDKRB2 bradykinin receptor B2 gene DOID:9007073 Cough no_association ISO RGD:737386 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:19744011|REF_RGD_ID:4891027 12301189 BDKRB2 bradykinin receptor B2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30685357 12301189 BDKRB2 bradykinin receptor B2 gene DOID:9008217 Hemorrhage ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16514058 12301189 BDKRB2 bradykinin receptor B2 gene DOID:9008511 Extravasation of Diagnostic and Therapeutic Materials ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9622145 12301189 BDKRB2 bradykinin receptor B2 gene DOID:9008887 Microvascular Angina ISO RGD:737386 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell PMID:17852785|REF_RGD_ID:4890450 12301189 BDKRB2 bradykinin receptor B2 gene DOID:9009039 Hyperemia ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11837250 12301189 BDKRB2 bradykinin receptor B2 gene DOID:9119 acute myeloid leukemia ISO RGD:737386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 12301202 TJP2 tight junction protein 2 gene DOID:0014667 disease of metabolism susceptibility ISO RGD:733146 D RGD:9068941 20200609 RGD DNA:transition: ; 143T>C; familial hypercholanemia, OMIM:607748 PMID:12704386|REF_RGD_ID:734629 12301202 TJP2 tight junction protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733146 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12301202 TJP2 tight junction protein 2 gene DOID:0070224 progressive familial intrahepatic cholestasis 4 ISO RGD:733146 D RGD:7240710 20180130 OMIM 12301202 TJP2 tight junction protein 2 gene DOID:0070224 progressive familial intrahepatic cholestasis 4 ISO RGD:733146 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 4 PMID:24033266|PMID:24614073|PMID:25741868|PMID:25921221|PMID:28492532|PMID:30311386|PMID:32089630 12301202 TJP2 tight junction protein 2 gene DOID:0110577 autosomal dominant nonsyndromic deafness 51 ISO RGD:733146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 51 PMID:20602916 12301202 TJP2 tight junction protein 2 gene DOID:10763 hypertension ISO RGD:619807 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:17234953|REF_RGD_ID:1600163 12301202 TJP2 tight junction protein 2 gene DOID:14702 branchiootorenal syndrome ISO RGD:733146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melnick-Fraser syndrome PMID:25741868|PMID:30311386 12301202 TJP2 tight junction protein 2 gene DOID:1852 intrahepatic cholestasis ISO RGD:733146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24614073 12301202 TJP2 tight junction protein 2 gene DOID:630 genetic disease ISO RGD:733146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10601346|PMID:25741868|PMID:28492532 12301202 TJP2 tight junction protein 2 gene DOID:9004538 Hearing Loss ISO RGD:733146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 12301202 TJP2 tight junction protein 2 gene DOID:9005961 Familial Hypercholanemia 1 ISO RGD:733146 D RGD:7240710 20210414 OMIM 12301202 TJP2 tight junction protein 2 gene DOID:9005961 Familial Hypercholanemia 1 ISO RGD:733146 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial 1 PMID:12704386|PMID:23767834|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28924228|PMID:29238877 12301202 TJP2 tight junction protein 2 gene DOID:9007118 Familial Hypercholanemia ISO RGD:733146 D RGD:9068941 20210430 CTD CTD Direct Evidence: marker/mechanism 12301202 TJP2 tight junction protein 2 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:733146 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 12301253 KIF5A kinesin family member 5A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1347916 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:20386726|PMID:25008398|PMID:25741868|PMID:29892902 12301253 KIF5A kinesin family member 5A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1550437 D RGD:9068941 20200609 RGD mRNA:increased expression:frontal cortex, cerebellum, spinal cord (mouse) PMID:23006449|REF_RGD_ID:12798528 12301253 KIF5A kinesin family member 5A gene DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis-4 ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 PMID:25741868|PMID:28492532|PMID:32579787 12301253 KIF5A kinesin family member 5A gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1347916 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U PMID:28492532 12301253 KIF5A kinesin family member 5A gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1347916 D RGD:7240710 20230517 OMIM 12301253 KIF5A kinesin family member 5A gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1347916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 10 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant PMID:12355402|PMID:15452312|PMID:16476820|PMID:16489470|PMID:17576681|PMID:18203753|PMID:18500496|PMID:18853458|PMID:21623771|PMID:22552817|PMID:22714410|PMID:24123792|PMID:24731568|PMID:25008398|PMID:25695920|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26543653|PMID:28362824|PMID:28492532|PMID:28678816|PMID:28708278|PMID:28832565|PMID:29566793|PMID:29892902|PMID:29908077|PMID:29954873|PMID:31211173|PMID:31403080|PMID:31422367|PMID:31475037|PMID:9536098 12301253 KIF5A kinesin family member 5A gene DOID:10283 prostate cancer ISO RGD:1347916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12301253 KIF5A kinesin family member 5A gene DOID:12859 choreatic disease ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal dyskinesia PMID:25741868|PMID:28492532 12301253 KIF5A kinesin family member 5A gene DOID:1826 epilepsy ISO RGD:1550437 D RGD:9068941 20200609 RGD PMID:23217743|REF_RGD_ID:12859092 12301253 KIF5A kinesin family member 5A gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1347916 D RGD:9068941 20200609 RGD DNA:snp:intron:c.1717-152C>G (rs1678542) (human) PMID:20508602|REF_RGD_ID:12793067 12301253 KIF5A kinesin family member 5A gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:15452312|PMID:18203753|PMID:18500496|PMID:18853458|PMID:21623771|PMID:25008398|PMID:25695920|PMID:25741868|PMID:26467025|PMID:26543653|PMID:28492532|PMID:28708278|PMID:28832565|PMID:29892902|PMID:31211173|PMID:31403080|PMID:31475037 12301253 KIF5A kinesin family member 5A gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:26467025|PMID:28492532 12301253 KIF5A kinesin family member 5A gene DOID:5214 demyelinating polyneuropathy ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Demyelinating peripheral neuropathy PMID:15452312|PMID:18853458|PMID:25008398|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28832565|PMID:29892902 12301253 KIF5A kinesin family member 5A gene DOID:5419 schizophrenia ISO RGD:1347916 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12301253 KIF5A kinesin family member 5A gene DOID:574 peripheral nervous system disease ISO RGD:1347916 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:18853458|PMID:21623771|PMID:25008398|PMID:25741868 12301253 KIF5A kinesin family member 5A gene DOID:607 paraplegia ISO RGD:1347916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:15452312|PMID:16199547|PMID:16476820|PMID:16489470|PMID:17576681|PMID:18203753|PMID:18500496|PMID:18853458|PMID:21623771|PMID:22552817|PMID:22714410|PMID:24123792|PMID:24731568|PMID:25008398|PMID:25352184|PMID:25640679|PMID:25695920|PMID:25741868|PMID:26374131|PMID:26403765|PMID:26467025|PMID:26543653|PMID:27084214|PMID:27414745|PMID:28362824|PMID:28492532|PMID:28678816|PMID:28708278|PMID:28832565|PMID:29342275|PMID:29566793|PMID:29892902|PMID:29908077|PMID:29954873|PMID:30778698|PMID:31211173|PMID:31403080|PMID:31422367|PMID:31475037|PMID:31612903|PMID:32579787|PMID:32815063|PMID:32888732|PMID:33589474|PMID:9536098 12301253 KIF5A kinesin family member 5A gene DOID:630 genetic disease ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:27957547|PMID:28492532 12301253 KIF5A kinesin family member 5A gene DOID:6846 familial melanoma ISO RGD:1347916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 12301253 KIF5A kinesin family member 5A gene DOID:7148 rheumatoid arthritis ISO RGD:1347916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 12301253 KIF5A kinesin family member 5A gene DOID:7148 rheumatoid arthritis ISO RGD:1347916 D RGD:9068941 20200609 RGD DNA:snps:intron, 3' utr:c.2756-43A>C, c.*776C>T (rs775246, rs775251) (human) PMID:21784728|REF_RGD_ID:12793073 12301253 KIF5A kinesin family member 5A gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1347916 D RGD:9068941 20200609 RGD DNA:snp:intron:c.1717-152C>G (rs1678542) (human) PMID:23378462|REF_RGD_ID:12793072 12301253 KIF5A kinesin family member 5A gene DOID:7596 asbestos-related lung carcinoma susceptibility ISO RGD:1347916 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21231887|REF_RGD_ID:12793066 12301253 KIF5A kinesin family member 5A gene DOID:870 neuropathy ISO RGD:1347916 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:18853458|PMID:21623771|PMID:25008398|PMID:25741868 12301253 KIF5A kinesin family member 5A gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1347916 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:28492532 12301253 KIF5A kinesin family member 5A gene DOID:9006777 Neonatal Intractable Myoclonus ISO RGD:1347916 D RGD:7240710 20230517 OMIM 12301253 KIF5A kinesin family member 5A gene DOID:9006777 Neonatal Intractable Myoclonus ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: KIF5A-related intractable neonatal myoclonus | ClinVar Annotator: match by term: Myoclonus, intractable, neonatal PMID:18500496|PMID:18853458|PMID:21623771|PMID:22552817|PMID:24215330|PMID:24731568|PMID:25008398|PMID:25741868|PMID:26374131|PMID:26543653|PMID:27414745|PMID:27463701|PMID:28492532|PMID:28678816 12301253 KIF5A kinesin family member 5A gene DOID:9009136 Amyotrophic Lateral Sclerosis Type 25 ISO RGD:1347916 D RGD:7240710 20230517 OMIM 12301253 KIF5A kinesin family member 5A gene DOID:9009136 Amyotrophic Lateral Sclerosis Type 25 ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 25 | ClinVar Annotator: match by term: KIF5A-related amyotrophic lateral sclerosis PMID:17576681|PMID:25741868|PMID:28492532|PMID:29342275|PMID:29566793|PMID:32815063|PMID:9536098 12301290 TRIT1 tRNA isopentenyltransferase 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1312422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12301290 TRIT1 tRNA isopentenyltransferase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12301290 TRIT1 tRNA isopentenyltransferase 1 gene DOID:0111464 combined oxidative phosphorylation deficiency 35 ISO RGD:1312422 D RGD:7240710 20190315 OMIM 12301290 TRIT1 tRNA isopentenyltransferase 1 gene DOID:0111464 combined oxidative phosphorylation deficiency 35 ISO RGD:1312422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 35 | ClinVar Annotator: match by term: TRIT1 Deficiency PMID:24901367|PMID:25741868|PMID:25954003|PMID:26381753|PMID:27618451|PMID:28185376|PMID:28490743|PMID:28492532|PMID:31140736|PMID:32324744 12301290 TRIT1 tRNA isopentenyltransferase 1 gene DOID:630 genetic disease ISO RGD:1312422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24901367|PMID:25741868|PMID:25954003|PMID:26381753|PMID:27618451|PMID:28185376|PMID:28490743|PMID:28492532|PMID:30977854|PMID:32324744 12301290 TRIT1 tRNA isopentenyltransferase 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1312422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 12301290 TRIT1 tRNA isopentenyltransferase 1 gene DOID:9003816 Macrocephaly ISO RGD:1312422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868|PMID:30977854 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:0050127 sinusitis ISO RGD:735638 D RGD:9068941 20200609 RGD PMID:21711960|REF_RGD_ID:6483796 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:735638 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:10591 pre-eclampsia ISO RGD:735638 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21722073|REF_RGD_ID:6484119 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:11729 Lyme disease ISO RGD:733132 D RGD:9068941 20200609 RGD PMID:19461880|REF_RGD_ID:6483813 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:11729 Lyme disease ISO RGD:735638 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:19461880|REF_RGD_ID:6483813 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:12849 autistic disorder ISO RGD:735638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19360663|PMID:21328570 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:1287 cardiovascular system disease ISO RGD:735638 D RGD:9068941 20200609 RGD PMID:22119508|REF_RGD_ID:6483791 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:14115 toxic shock syndrome ISO RGD:733132 D RGD:9068941 20200609 RGD PMID:20693875|REF_RGD_ID:6484122 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:14566 disease of cellular proliferation ISO RGD:735638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22261521 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:14566 disease of cellular proliferation ISO RGD:735638 D RGD:9068941 20200609 RGD PMID:14595671|REF_RGD_ID:1549414 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:1824 status epilepticus ISO RGD:620597 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:19527776|REF_RGD_ID:6483810 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:2043 hepatitis B severity ISO RGD:735638 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18691743|REF_RGD_ID:6483828 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:2957 pulmonary tuberculosis severity ISO RGD:735638 D RGD:9068941 20200609 RGD PMID:18359089|REF_RGD_ID:6483832 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:305 carcinoma ISO RGD:735638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15302576 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:620597 D RGD:9068941 20200609 RGD protein:increased expression:bronchus PMID:17651644|REF_RGD_ID:6484146 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:3526 cerebral infarction ISO RGD:733132 D RGD:9068941 20200609 RGD PMID:20138161|REF_RGD_ID:6483804 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:5052 melioidosis ISO RGD:733132 D RGD:9068941 20200609 RGD PMID:20142364|REF_RGD_ID:6484129 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:5052 melioidosis ISO RGD:735638 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:blood, granulocyte, monocyte PMID:20142364|REF_RGD_ID:6484129 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:5082 liver cirrhosis disease_progression ISO RGD:735638 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22098627|REF_RGD_ID:6484116 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735638 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21384094|REF_RGD_ID:6484120 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:526 human immunodeficiency virus infectious disease disease_progression ISO RGD:735638 D RGD:9068941 20200609 RGD PMID:20229356|REF_RGD_ID:6484128 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:5419 schizophrenia ISO RGD:735638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:5844 myocardial infarction ISO RGD:620597 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium PMID:20952728|REF_RGD_ID:6484133 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:5844 myocardial infarction ISO RGD:735638 D RGD:9068941 20200609 RGD PMID:12393744|REF_RGD_ID:1580897 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:630 genetic disease ISO RGD:735638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:649 prion disease ISO RGD:733132 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:19459212|REF_RGD_ID:6483816 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:7148 rheumatoid arthritis ISO RGD:735638 D RGD:9068941 20200609 RGD PMID:22011479|REF_RGD_ID:6484117 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:783 end stage renal disease ISO RGD:735638 D RGD:9068941 20200609 RGD PMID:19926968|REF_RGD_ID:6483806 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:8283 peritonitis ISO RGD:733132 D RGD:9068941 20200609 RGD PMID:20693875|REF_RGD_ID:6484122 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735638 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:1304722|REF_RGD_ID:6483787 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:8778 Crohn's disease ISO RGD:735638 D RGD:9068941 20200609 RGD PMID:21114432|REF_RGD_ID:6483800 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:733132 D RGD:9068941 20200609 RGD PMID:21573723|REF_RGD_ID:6483797 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:9000169 Systemic Inflammatory Response Syndrome disease_progression ISO RGD:735638 D RGD:9068941 20200609 RGD PMID:18197443|REF_RGD_ID:6484114 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:9000310 Lung Injury ISO RGD:733132 D RGD:9068941 20200609 RGD associated with Hyperoxia PMID:19435793|REF_RGD_ID:6483820 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:733132 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms PMID:22577342|REF_RGD_ID:6483788 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:735638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15659795 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:735638 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22098627|REF_RGD_ID:6484116 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:9001472 Nasal Polyps ISO RGD:735638 D RGD:9068941 20200609 RGD associated with Sinusitis PMID:21711960|REF_RGD_ID:6483796 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:735638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15302576 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:9004009 Reperfusion Injury ISO RGD:733132 D RGD:9068941 20200609 RGD PMID:18606671|REF_RGD_ID:6483829 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:9004484 Sepsis ISO RGD:735638 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22550400|REF_RGD_ID:6483789 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:620597 D RGD:9068941 20200609 RGD PMID:12198772|REF_RGD_ID:729319 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22261521 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:9005036 Bacteremia severity ISO RGD:735638 D RGD:9068941 20200609 RGD PMID:21332843|REF_RGD_ID:6483799 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:9005372 Inflammation ISO RGD:735638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22261521 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:735638 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22050462|REF_RGD_ID:6483792 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:9471 meningitis disease_progression ISO RGD:735638 D RGD:9068941 20200609 RGD PMID:21971819|REF_RGD_ID:6484118 12301312 PLAUR plasminogen activator, urokinase receptor gene DOID:9970 obesity ISO RGD:735638 D RGD:9068941 20200609 RGD PMID:21372607|REF_RGD_ID:6484121 12301324 XRN2 5'-3' exoribonuclease 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1320991 D RGD:9068941 20200609 RGD DNA:hypermethylation:3' utr: (human) PMID:21692051|REF_RGD_ID:11041796 12301324 XRN2 5'-3' exoribonuclease 2 gene DOID:1324 lung cancer susceptibility ISO RGD:1320991 D RGD:9068941 20200609 RGD DNA:snp:intron:c.2171-314T>C (rs2025811) (human) PMID:19915612|REF_RGD_ID:11041753 12301324 XRN2 5'-3' exoribonuclease 2 gene DOID:1824 status epilepticus ISO RGD:1310218 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:26869208|REF_RGD_ID:11041797 12301324 XRN2 5'-3' exoribonuclease 2 gene DOID:1967 leiomyosarcoma ISO RGD:1320991 D RGD:9068941 20200609 RGD mRNA:increased expression:uterus (human) PMID:24485798|REF_RGD_ID:11041788 12301324 XRN2 5'-3' exoribonuclease 2 gene DOID:630 genetic disease ISO RGD:1320991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12301358 SSBP2 single stranded DNA binding protein 2 gene DOID:10283 prostate cancer ISO RGD:1344325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12301358 SSBP2 single stranded DNA binding protein 2 gene DOID:3312 bipolar disorder ISO RGD:1344325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12301358 SSBP2 single stranded DNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1344325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12301358 SSBP2 single stranded DNA binding protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18559593 12301358 SSBP2 single stranded DNA binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12301385 AK7 adenylate kinase 7 gene DOID:0111928 spermatogenic failure 27 ISO RGD:1320025 D RGD:7240710 20190315 OMIM 12301385 AK7 adenylate kinase 7 gene DOID:0111928 spermatogenic failure 27 ISO RGD:1320025 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 27 PMID:25741868|PMID:28492532|PMID:29365104 12301385 AK7 adenylate kinase 7 gene DOID:10908 hydrocephalus ISO RGD:1617449 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 12301385 AK7 adenylate kinase 7 gene DOID:630 genetic disease ISO RGD:1320025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12301385 AK7 adenylate kinase 7 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320025 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18776131|PMID:20537283|PMID:22801010 12301410 RBFOX2 RNA binding fox-1 homolog 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1323505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12301410 RBFOX2 RNA binding fox-1 homolog 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1323505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12301410 RBFOX2 RNA binding fox-1 homolog 2 gene DOID:630 genetic disease ISO RGD:1323505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12301410 RBFOX2 RNA binding fox-1 homolog 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1323505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12301410 RBFOX2 RNA binding fox-1 homolog 2 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1323505 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome PMID:25741868|PMID:26785492|PMID:27485310|PMID:27670201|PMID:32368696|PMID:35137168 12301465 GMCL1 germ cell-less 1, spermatogenesis associated gene DOID:630 genetic disease ISO RGD:1605349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12301488 DCK deoxycytidine kinase gene DOID:630 genetic disease ISO RGD:1344747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12301488 DCK deoxycytidine kinase gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1344747 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12301499 DEAF1 DEAF1 transcription factor gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12301499 DEAF1 DEAF1 transcription factor gene DOID:0050729 neutral lipid storage disease ISO RGD:731970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 12301499 DEAF1 DEAF1 transcription factor gene DOID:0060041 autism spectrum disorder ISO RGD:731970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868|PMID:30763456|PMID:30923367 12301499 DEAF1 DEAF1 transcription factor gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:731970 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868 12301499 DEAF1 DEAF1 transcription factor gene DOID:0070054 Vulto-van Silfout-de Vries syndrome ISO RGD:731970 D RGD:7240710 20180130 OMIM 12301499 DEAF1 DEAF1 transcription factor gene DOID:0070054 Vulto-van Silfout-de Vries syndrome ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED EXPRESSIVE SPEECH AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES PMID:11690625|PMID:21076407|PMID:23020937|PMID:24726472|PMID:25326635|PMID:25741868|PMID:26048982|PMID:26467025|PMID:28213671|PMID:28492532|PMID:28940898|PMID:30923367 12301499 DEAF1 DEAF1 transcription factor gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:731970 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 PMID:25741868|PMID:28492532|PMID:30923367 12301499 DEAF1 DEAF1 transcription factor gene DOID:0080773 delta beta-thalassemia ISO RGD:731970 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12301499 DEAF1 DEAF1 transcription factor gene DOID:0111969 immunodeficiency 39 ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12301499 DEAF1 DEAF1 transcription factor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12301499 DEAF1 DEAF1 transcription factor gene DOID:10283 prostate cancer ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12301499 DEAF1 DEAF1 transcription factor gene DOID:1059 intellectual disability ISO RGD:731970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:28714951|PMID:31785789|PMID:31981491 12301499 DEAF1 DEAF1 transcription factor gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731970 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:25741868|PMID:28492532 12301499 DEAF1 DEAF1 transcription factor gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12301499 DEAF1 DEAF1 transcription factor gene DOID:630 genetic disease ISO RGD:731970 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24668509|PMID:24726472|PMID:25741868|PMID:26467025|PMID:26795593|PMID:26834045|PMID:28213671|PMID:28492532|PMID:28588821|PMID:28714951|PMID:28940898|PMID:30923367|PMID:31785789|PMID:31981491|PMID:33726816|PMID:9697411 12301499 DEAF1 DEAF1 transcription factor gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12301499 DEAF1 DEAF1 transcription factor gene DOID:9007457 Dyskinesias, Seizures, and Intellectual Developmental Disorder ISO RGD:731970 D RGD:7240710 20190315 OMIM 12301499 DEAF1 DEAF1 transcription factor gene DOID:9007457 Dyskinesias, Seizures, and Intellectual Developmental Disorder ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder PMID:11690625|PMID:24668509|PMID:25741868|PMID:26048982|PMID:26467025|PMID:26795593|PMID:26834045|PMID:28492532|PMID:28940898|PMID:30923367|PMID:31688097|PMID:31929336 12301499 DEAF1 DEAF1 transcription factor gene DOID:9007478 Malocclusion, Angle Class III ISO RGD:731970 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hapsburg jaw PMID:25741868|PMID:28492532 12301499 DEAF1 DEAF1 transcription factor gene DOID:9008582 Developmental Disease ISO RGD:731970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12301499 DEAF1 DEAF1 transcription factor gene DOID:9970 obesity ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:28492532 12301520 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:0060163 body dysmorphic disorder ISO RGD:736329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 12301520 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:736329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12301520 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:1059 intellectual disability ISO RGD:736329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 12301520 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:10907 microcephaly ISO RGD:736329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 12301520 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:1749 squamous cell carcinoma ISO RGD:736329 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 12301520 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:1826 epilepsy ISO RGD:736329 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12301520 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:1909 melanoma ISO RGD:736329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12301520 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:3070 high grade glioma ISO RGD:736329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276365 12301520 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:736329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22215748|PMID:22585869|PMID:22617245|PMID:22919003 12301520 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:736329 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:23724914|PMID:27993330 12301520 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:736329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12301520 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:9000495 Tremor ISO RGD:736329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12301520 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:9007661 Dwarfism ISO RGD:736329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12301573 LRRC8E leucine rich repeat containing 8 VRAC subunit E gene DOID:0080490 mucolipidosis type IV ISO RGD:1604796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12301573 LRRC8E leucine rich repeat containing 8 VRAC subunit E gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1604796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 12301573 LRRC8E leucine rich repeat containing 8 VRAC subunit E gene DOID:2843 long QT syndrome ISO RGD:1604796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12301573 LRRC8E leucine rich repeat containing 8 VRAC subunit E gene DOID:630 genetic disease ISO RGD:1604796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12301624 AGPS alkylglycerone phosphate synthase gene DOID:0090022 split hand-foot malformation 5 ISO RGD:732011 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12301624 AGPS alkylglycerone phosphate synthase gene DOID:0110853 rhizomelic chondrodysplasia punctata type 3 ISO RGD:732011 D RGD:7240710 20180130 OMIM 12301624 AGPS alkylglycerone phosphate synthase gene DOID:0110853 rhizomelic chondrodysplasia punctata type 3 ISO RGD:732011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 3 PMID:11152660|PMID:17576681|PMID:18414213|PMID:21990100|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7807941|PMID:9536098|PMID:9553082 12301624 AGPS alkylglycerone phosphate synthase gene DOID:2580 rhizomelic chondrodysplasia punctata ISO RGD:732011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata PMID:17576681|PMID:18414213|PMID:25741868|PMID:28492532|PMID:9536098 12301624 AGPS alkylglycerone phosphate synthase gene DOID:630 genetic disease ISO RGD:732011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12301624 AGPS alkylglycerone phosphate synthase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:620364 D RGD:9068941 20200609 RGD PMID:7407223|REF_RGD_ID:1598794 12301624 AGPS alkylglycerone phosphate synthase gene DOID:9005474 Experimental Sarcoma ISO RGD:620364 D RGD:9068941 20200609 RGD PMID:7407223|REF_RGD_ID:1598794 12301654 SCG2 secretogranin II gene DOID:630 genetic disease ISO RGD:734327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12301654 SCG2 secretogranin II gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12301660 OTUD7A OTU deubiquitinase 7A gene DOID:0050889 non-syndromic intellectual disability ISO RGD:1351552 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Non-syndromic intellectual disability PMID:25741868 12301660 OTUD7A OTU deubiquitinase 7A gene DOID:0060041 autism spectrum disorder ISO RGD:1351552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:19050728|PMID:19289393|PMID:21844811|PMID:23044707|PMID:25255310|PMID:25741868|PMID:27569545 12301660 OTUD7A OTU deubiquitinase 7A gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1351552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome 12301660 OTUD7A OTU deubiquitinase 7A gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:1351552 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome PMID:31690835 12301660 OTUD7A OTU deubiquitinase 7A gene DOID:12849 autistic disorder ISO RGD:1351552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311 12301660 OTUD7A OTU deubiquitinase 7A gene DOID:5419 schizophrenia ISO RGD:1351552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12301660 OTUD7A OTU deubiquitinase 7A gene DOID:630 genetic disease ISO RGD:1351552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12301660 OTUD7A OTU deubiquitinase 7A gene DOID:8927 learning disability ISO RGD:1351552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:31997314 12301660 OTUD7A OTU deubiquitinase 7A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12301660 OTUD7A OTU deubiquitinase 7A gene DOID:9256 colorectal cancer ISO RGD:1351552 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 12301660 OTUD7A OTU deubiquitinase 7A gene DOID:93 language disorder ISO RGD:1351552 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Language disorder PMID:31997314 12301678 MCTP2 multiple C2 and transmembrane domain containing 2 gene DOID:630 genetic disease ISO RGD:1603987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12301711 GDNF glial cell derived neurotrophic factor gene DOID:0050548 hereditary sensory neuropathy IAGP D RGD:12801476 20210603 OMIA Acral mutilation syndrome PMID:20961556|PMID:15842538|PMID:6574711|PMID:6259871|PMID:28033318|PMID:4725277|PMID:6203326|PMID:30955094 12301711 GDNF glial cell derived neurotrophic factor gene DOID:0050771 pheochromocytoma ISO RGD:735823 D RGD:9068941 20210820 CTD CTD Direct Evidence: marker/mechanism PMID:9215674 12301711 GDNF glial cell derived neurotrophic factor gene DOID:0060161 Kennedy's disease ISO RGD:735823 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:10447463|REF_RGD_ID:6218978 12301711 GDNF glial cell derived neurotrophic factor gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:735823 D RGD:9068941 20210820 CTD CTD Direct Evidence: marker/mechanism PMID:9497256 12301711 GDNF glial cell derived neurotrophic factor gene DOID:0080855 Parkinsonism ISO RGD:2677 D RGD:9068941 20200609 RGD PMID:21865882|REF_RGD_ID:6218962 12301711 GDNF glial cell derived neurotrophic factor gene DOID:0080855 Parkinsonism ISO RGD:2677 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:22186119|REF_RGD_ID:5686884 12301711 GDNF glial cell derived neurotrophic factor gene DOID:0080855 Parkinsonism ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12213621|PMID:9266731 12301711 GDNF glial cell derived neurotrophic factor gene DOID:0080855 Parkinsonism treatment ISO RGD:735823 D RGD:9068941 20200609 RGD PMID:16018990|REF_RGD_ID:8657066 12301711 GDNF glial cell derived neurotrophic factor gene DOID:10487 Hirschsprung's disease ISO RGD:735823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 PMID:10790203|PMID:10917288|PMID:11565554|PMID:11823451|PMID:12640453|PMID:19184120|PMID:21206993|PMID:22729463|PMID:24033266|PMID:24997227|PMID:25741868|PMID:28492532|PMID:8896568|PMID:8896569|PMID:8968758|PMID:9215674|PMID:9359036|PMID:9497256 12301711 GDNF glial cell derived neurotrophic factor gene DOID:10487 Hirschsprung's disease susceptibility ISO RGD:735823 D RGD:7240710 20190502 OMIM 12301711 GDNF glial cell derived neurotrophic factor gene DOID:10652 Alzheimer's disease ISO RGD:735823 D RGD:9068941 20200609 RGD mRNA, protein:alternate form, decreased expression:brain PMID:22081608|REF_RGD_ID:5688777 12301711 GDNF glial cell derived neurotrophic factor gene DOID:11446 sciatic neuropathy ISO RGD:2677 D RGD:9068941 20200609 RGD mRNA:increased expression:sciatic nerve PMID:10852218|REF_RGD_ID:6218977 12301711 GDNF glial cell derived neurotrophic factor gene DOID:12689 acoustic neuroma ISO RGD:735823 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral nerve: PMID:19937367|REF_RGD_ID:8655552 12301711 GDNF glial cell derived neurotrophic factor gene DOID:12842 Guillain-Barre syndrome ISO RGD:735823 D RGD:9068941 20200609 RGD PMID:9853108|REF_RGD_ID:6218983 12301711 GDNF glial cell derived neurotrophic factor gene DOID:12858 Huntington's disease ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16943855 12301711 GDNF glial cell derived neurotrophic factor gene DOID:1289 neurodegenerative disease ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11592846 12301711 GDNF glial cell derived neurotrophic factor gene DOID:12894 Sjogren's syndrome ISO RGD:735823 D RGD:9068941 20200609 RGD PMID:9853108|REF_RGD_ID:6218983 12301711 GDNF glial cell derived neurotrophic factor gene DOID:13548 secondary Parkinson disease ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19909981 12301711 GDNF glial cell derived neurotrophic factor gene DOID:14330 Parkinson's disease ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11031079|PMID:16324109 12301711 GDNF glial cell derived neurotrophic factor gene DOID:14330 Parkinson's disease ISO RGD:735823 D RGD:9068941 20200609 RGD mRNA:increased expression:putamen PMID:16644101|REF_RGD_ID:6218968 12301711 GDNF glial cell derived neurotrophic factor gene DOID:1793 pancreatic cancer severity ISO RGD:735823 D RGD:9068941 20200609 RGD PMID:18652760|REF_RGD_ID:2324925 12301711 GDNF glial cell derived neurotrophic factor gene DOID:1824 status epilepticus ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12914250|PMID:7854063 12301711 GDNF glial cell derived neurotrophic factor gene DOID:1826 epilepsy ISO RGD:735823 D RGD:9068941 20200609 RGD PMID:19162016|REF_RGD_ID:6218965 12301711 GDNF glial cell derived neurotrophic factor gene DOID:3049 Churg-Strauss syndrome ISO RGD:735823 D RGD:9068941 20200609 RGD PMID:9853108|REF_RGD_ID:6218983 12301711 GDNF glial cell derived neurotrophic factor gene DOID:3068 glioblastoma ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138852 12301711 GDNF glial cell derived neurotrophic factor gene DOID:3070 high grade glioma ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138852 12301711 GDNF glial cell derived neurotrophic factor gene DOID:3181 oligodendroglioma ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138852 12301711 GDNF glial cell derived neurotrophic factor gene DOID:332 amyotrophic lateral sclerosis ISO RGD:735823 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:10447463|REF_RGD_ID:6218978 12301711 GDNF glial cell derived neurotrophic factor gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2677 D RGD:9068941 20210122 RGD PMID:29497380|REF_RGD_ID:40925919 12301711 GDNF glial cell derived neurotrophic factor gene DOID:4752 multiple system atrophy ISO RGD:10631 D RGD:9068941 20200609 RGD PMID:22281106|REF_RGD_ID:5688775 12301711 GDNF glial cell derived neurotrophic factor gene DOID:630 genetic disease ISO RGD:735823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12301711 GDNF glial cell derived neurotrophic factor gene DOID:670 amphetamine abuse ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17356005 12301711 GDNF glial cell derived neurotrophic factor gene DOID:8466 retinal degeneration ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17935603 12301711 GDNF glial cell derived neurotrophic factor gene DOID:9000039 Spinal Cord Injuries ISO RGD:10631 D RGD:9068941 20200609 RGD PMID:22342994|REF_RGD_ID:5688774 12301711 GDNF glial cell derived neurotrophic factor gene DOID:9000998 Brain Injuries ISO RGD:2677 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:18501516|REF_RGD_ID:2324932 12301711 GDNF glial cell derived neurotrophic factor gene DOID:9002211 Hyperalgesia ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20457222 12301711 GDNF glial cell derived neurotrophic factor gene DOID:9003814 Neurologic Manifestations ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19894114 12301711 GDNF glial cell derived neurotrophic factor gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:10631 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:15950786|REF_RGD_ID:8657070 12301711 GDNF glial cell derived neurotrophic factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12301711 GDNF glial cell derived neurotrophic factor gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14622243|PMID:15899247 12301711 GDNF glial cell derived neurotrophic factor gene DOID:9005834 Ependymomas ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138852 12301711 GDNF glial cell derived neurotrophic factor gene DOID:9008091 Optic Nerve Injuries ISO RGD:2677 D RGD:9068941 20200609 RGD PMID:15144875|REF_RGD_ID:6218970 12301711 GDNF glial cell derived neurotrophic factor gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11168568 12301711 GDNF glial cell derived neurotrophic factor gene DOID:9810 polyarteritis nodosa ISO RGD:735823 D RGD:9068941 20200609 RGD PMID:9853108|REF_RGD_ID:6218983 12301727 PABIR2 PABIR family member 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12301727 PABIR2 PABIR family member 2 gene DOID:12849 autistic disorder ISO RGD:1605855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12301747 CSTL1 cystatin like 1 gene DOID:630 genetic disease ISO RGD:1316602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12301760 PAXBP1 PAX3 and PAX7 binding protein 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1353290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12301760 PAXBP1 PAX3 and PAX7 binding protein 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1353290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12301760 PAXBP1 PAX3 and PAX7 binding protein 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1353290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12301760 PAXBP1 PAX3 and PAX7 binding protein 1 gene DOID:630 genetic disease ISO RGD:1353290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12301760 PAXBP1 PAX3 and PAX7 binding protein 1 gene DOID:9002189 High Myopia ISO RGD:1353290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12301760 PAXBP1 PAX3 and PAX7 binding protein 1 gene DOID:9005698 ZTTK Syndrome ISO RGD:1353290 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 12301782 IGFBP5 insulin like growth factor binding protein 5 gene DOID:11054 urinary bladder cancer ISO RGD:732384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 12301782 IGFBP5 insulin like growth factor binding protein 5 gene DOID:3770 pulmonary fibrosis ISO RGD:732384 D RGD:9068941 20200609 RGD PMID:15681824|REF_RGD_ID:1626120 12301782 IGFBP5 insulin like growth factor binding protein 5 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:2876 D RGD:9068941 20200609 RGD PMID:19844724|REF_RGD_ID:10402761 12301782 IGFBP5 insulin like growth factor binding protein 5 gene DOID:630 genetic disease ISO RGD:732384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12301782 IGFBP5 insulin like growth factor binding protein 5 gene DOID:9000528 Coronary Disease ISO RGD:732384 D RGD:9068941 20200609 RGD PMID:15521962|REF_RGD_ID:1626121 12301782 IGFBP5 insulin like growth factor binding protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12301782 IGFBP5 insulin like growth factor binding protein 5 gene DOID:9004657 Weight Gain ISO RGD:732384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12301782 IGFBP5 insulin like growth factor binding protein 5 gene DOID:9005930 Endotoxemia ISO RGD:2876 D RGD:9068941 20200609 RGD PMID:12217886|REF_RGD_ID:625688 12301782 IGFBP5 insulin like growth factor binding protein 5 gene DOID:9008939 Breast Neoplasms ISO RGD:732384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20354179 12301806 ADGRL1 adhesion G protein-coupled receptor L1 gene DOID:12849 autistic disorder ISO RGD:733163 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868|PMID:30504930|PMID:35907405 12301806 ADGRL1 adhesion G protein-coupled receptor L1 gene DOID:630 genetic disease ISO RGD:733163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12301806 ADGRL1 adhesion G protein-coupled receptor L1 gene DOID:9004009 Reperfusion Injury ISO RGD:620768 D RGD:9068941 20200609 RGD PMID:12225880|REF_RGD_ID:2314400 12301806 ADGRL1 adhesion G protein-coupled receptor L1 gene DOID:9006518 DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS ISO RGD:733163 D RGD:7240710 20221207 OMIM 12301806 ADGRL1 adhesion G protein-coupled receptor L1 gene DOID:9006518 DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS ISO RGD:733163 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Developmental delay, behavioral abnormalities, and neuropsychiatric disorders PMID:25741868|PMID:30504930|PMID:35907405 12301806 ADGRL1 adhesion G protein-coupled receptor L1 gene DOID:9008086 Developmental Disabilities ISO RGD:733163 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:35907405 12301843 SPINK4 serine peptidase inhibitor Kazal type 4 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1342974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12301843 SPINK4 serine peptidase inhibitor Kazal type 4 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1342974 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12301843 SPINK4 serine peptidase inhibitor Kazal type 4 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1342974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12301843 SPINK4 serine peptidase inhibitor Kazal type 4 gene DOID:630 genetic disease ISO RGD:1342974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12301843 SPINK4 serine peptidase inhibitor Kazal type 4 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1342974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12301843 SPINK4 serine peptidase inhibitor Kazal type 4 gene DOID:9870 galactosemia ISO RGD:1342974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12301859 SVIP small VCP interacting protein gene DOID:1059 intellectual disability ISO RGD:2306136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12301859 SVIP small VCP interacting protein gene DOID:630 genetic disease ISO RGD:2306136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12301870 NSFL1C NSFL1 cofactor gene DOID:630 genetic disease ISO RGD:734170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12301885 OR52E2 olfactory receptor family 52 subfamily E member 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1347048 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12301885 OR52E2 olfactory receptor family 52 subfamily E member 2 gene DOID:630 genetic disease ISO RGD:1347048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12301895 CCIN calicin gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1343153 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12301895 CCIN calicin gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1343153 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12301895 CCIN calicin gene DOID:0080942 anauxetic dysplasia ISO RGD:1343153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12301895 CCIN calicin gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1343153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12301895 CCIN calicin gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1343153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12301895 CCIN calicin gene DOID:630 genetic disease ISO RGD:1343153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12301895 CCIN calicin gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1343153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12301895 CCIN calicin gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343153 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12301895 CCIN calicin gene DOID:9870 galactosemia ISO RGD:1343153 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12301901 MIR186 microRNA mir-186 gene DOID:11054 urinary bladder cancer ISO RGD:1346900 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 12301901 MIR186 microRNA mir-186 gene DOID:9000918 Disease Progression ISO RGD:1346900 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 12301901 MIR186 microRNA mir-186 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1346900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12301901 MIR186 microRNA mir-186 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1346900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 12301901 MIR186 microRNA mir-186 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1346900 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 12301901 MIR186 microRNA mir-186 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1346900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 12301901 MIR186 microRNA mir-186 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1346900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12301901 MIR186 microRNA mir-186 gene DOID:9256 colorectal cancer ISO RGD:1346900 D RGD:9068941 20220929 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12301949 LOC102156144 beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 7 gene DOID:630 genetic disease ISO RGD:1354424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302000 SPAAR small regulatory polypeptide of amino acid response gene DOID:0080942 anauxetic dysplasia ISO RGD:7246751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12302009 IAPP islet amyloid polypeptide gene DOID:10808 gastric ulcer ISO RGD:737044 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9286623 12302009 IAPP islet amyloid polypeptide gene DOID:630 genetic disease ISO RGD:737044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302009 IAPP islet amyloid polypeptide gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12302009 IAPP islet amyloid polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:737044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366|PMID:23793354 12302009 IAPP islet amyloid polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:737044 D RGD:9068941 20200609 RGD PMID:18641056|PMID:19100955|REF_RGD_ID:2311446|REF_RGD_ID:2313359 12302009 IAPP islet amyloid polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:737044 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic islet (human) PMID:2441214|REF_RGD_ID:9686128 12302009 IAPP islet amyloid polypeptide gene DOID:9744 type 1 diabetes mellitus ISO RGD:737044 D RGD:9068941 20200609 RGD PMID:19190104|REF_RGD_ID:2313356 12302009 IAPP islet amyloid polypeptide gene DOID:9744 type 1 diabetes mellitus ISO RGD:737044 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19033417|REF_RGD_ID:2313357 12302016 RSPO3 R-spondin 3 gene DOID:630 genetic disease ISO RGD:1345376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302016 RSPO3 R-spondin 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1345376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12302016 RSPO3 R-spondin 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1345376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468756 12302027 PITPNM2 phosphatidylinositol transfer protein membrane associated 2 gene DOID:630 genetic disease ISO RGD:1322017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302074 SERPINA7 serpin family A member 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12302074 SERPINA7 serpin family A member 7 gene DOID:12849 autistic disorder ISO RGD:1351148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12302074 SERPINA7 serpin family A member 7 gene DOID:1459 hypothyroidism ISO RGD:619833 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:2106883|REF_RGD_ID:1600137 12302074 SERPINA7 serpin family A member 7 gene DOID:1837 diabetic ketoacidosis ISO RGD:1351148 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:6768790|REF_RGD_ID:2312332 12302074 SERPINA7 serpin family A member 7 gene DOID:630 genetic disease ISO RGD:1351148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302074 SERPINA7 serpin family A member 7 gene DOID:655 inherited metabolic disorder ISO RGD:1351148 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2155256 12302074 SERPINA7 serpin family A member 7 gene DOID:7998 hyperthyroidism ISO RGD:619833 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:2505856|REF_RGD_ID:1600139 12302074 SERPINA7 serpin family A member 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351148 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12302074 SERPINA7 serpin family A member 7 gene DOID:9001797 Inherited Thyroxine-Binding Globulin Deficiency ISO RGD:1351148 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Thyroxine-binding globulin, variant P PMID:18407078|PMID:1901689|PMID:2155256|PMID:2495303|PMID:33554479 12302074 SERPINA7 serpin family A member 7 gene DOID:9005007 Thyroxine-Binding Globulin Deficiency ISO RGD:1351148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroxine-binding globulin deficiency | ClinVar Annotator: match by term: Thyroxine-binding globulin deficiency, partial PMID:1901689|PMID:2155256|PMID:2495303|PMID:25741868|PMID:28492532|PMID:3093522 12302074 SERPINA7 serpin family A member 7 gene DOID:9351 diabetes mellitus ISO RGD:1351148 D RGD:9068941 20200609 RGD PMID:8742570|REF_RGD_ID:2312329 12302074 SERPINA7 serpin family A member 7 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1351148 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:1867879|REF_RGD_ID:2312330 12302090 TMED7 transmembrane p24 trafficking protein 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1342694 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12302090 TMED7 transmembrane p24 trafficking protein 7 gene DOID:12849 autistic disorder ISO RGD:1342694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12302090 TMED7 transmembrane p24 trafficking protein 7 gene DOID:13580 cholestasis ISO RGD:1342694 D RGD:9068941 20201203 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12302090 TMED7 transmembrane p24 trafficking protein 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12302090 TMED7 transmembrane p24 trafficking protein 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1342694 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12302090 TMED7 transmembrane p24 trafficking protein 7 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342694 D RGD:9068941 20201203 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12302097 DOT1L DOT1 like histone lysine methyltransferase gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1315377 D RGD:9068941 20220825 MouseDO OMIM:115200 12302097 DOT1L DOT1 like histone lysine methyltransferase gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1315376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12302097 DOT1L DOT1 like histone lysine methyltransferase gene DOID:3910 lung adenocarcinoma ISO RGD:1315376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 12302097 DOT1L DOT1 like histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1315376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302097 DOT1L DOT1 like histone lysine methyltransferase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315376 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32814769 12302097 DOT1L DOT1 like histone lysine methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12302097 DOT1L DOT1 like histone lysine methyltransferase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315376 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:31888761 12302097 DOT1L DOT1 like histone lysine methyltransferase gene DOID:9008582 Developmental Disease ISO RGD:1315376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12302097 DOT1L DOT1 like histone lysine methyltransferase gene DOID:9953 acute biphenotypic leukemia treatment ISO RGD:1315376 D RGD:9068941 20200609 RGD PMID:23801631|REF_RGD_ID:9588291 12302131 RP1L1 RP1 like 1 gene DOID:0050578 occult macular dystrophy ISO RGD:1319776 D RGD:7240710 20180130 OMIM 12302131 RP1L1 RP1 like 1 gene DOID:0050578 occult macular dystrophy ISO RGD:1319776 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: OMD | ClinVar Annotator: match by term: Occult macular dystrophy PMID:12724644|PMID:20826268|PMID:22277662|PMID:22504327|PMID:23281133|PMID:23619761|PMID:23745001|PMID:24033266|PMID:24838559|PMID:25741868|PMID:25908487|PMID:26355662|PMID:26782618|PMID:27029556|PMID:27623337|PMID:28492532|PMID:30025130|PMID:32360662|PMID:33302505 12302131 RP1L1 RP1 like 1 gene DOID:0112145 retinitis pigmentosa 88 ISO RGD:1319776 D RGD:7240710 20200408 OMIM 12302131 RP1L1 RP1 like 1 gene DOID:0112145 retinitis pigmentosa 88 ISO RGD:1319776 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 88 PMID:20826268|PMID:22504327|PMID:23281133|PMID:23619761|PMID:23745001|PMID:25741868|PMID:25908487|PMID:26355662|PMID:26782618|PMID:27029556|PMID:27623337|PMID:28492532|PMID:30025130|PMID:31087526|PMID:31236346|PMID:31833436|PMID:32360662|PMID:33302505|PMID:33546218 12302131 RP1L1 RP1 like 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1319776 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22277662|PMID:25324289|PMID:26355662|PMID:28492532 12302131 RP1L1 RP1 like 1 gene DOID:4448 macular degeneration ISO RGD:1319776 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25741868 12302131 RP1L1 RP1 like 1 gene DOID:630 genetic disease ISO RGD:1319776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12302131 RP1L1 RP1 like 1 gene DOID:8501 fundus dystrophy ISO RGD:1319776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20826268|PMID:22504327|PMID:23281133|PMID:23619761|PMID:23745001|PMID:25741868|PMID:25908487|PMID:26782618|PMID:27623337|PMID:28492532|PMID:30025130 12302131 RP1L1 RP1 like 1 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1319776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 12302131 RP1L1 RP1 like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12302131 RP1L1 RP1 like 1 gene DOID:9008060 Ulnar/Fibular Ray Defect and Brachydactyly ISO RGD:1319776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ulnar/fibular ray defect and brachydactyly PMID:28492532 12302136 STK32A serine/threonine kinase 32A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318050 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12302136 STK32A serine/threonine kinase 32A gene DOID:630 genetic disease ISO RGD:1318050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302136 STK32A serine/threonine kinase 32A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12302136 STK32A serine/threonine kinase 32A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318050 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12302153 NEURL4 neuralized E3 ubiquitin protein ligase 4 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1601733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12302153 NEURL4 neuralized E3 ubiquitin protein ligase 4 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1601733 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12302153 NEURL4 neuralized E3 ubiquitin protein ligase 4 gene DOID:1059 intellectual disability ISO RGD:1601733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12302153 NEURL4 neuralized E3 ubiquitin protein ligase 4 gene DOID:12177 common variable immunodeficiency ISO RGD:1601733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12302153 NEURL4 neuralized E3 ubiquitin protein ligase 4 gene DOID:2729 dyskeratosis congenita ISO RGD:1601733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12302153 NEURL4 neuralized E3 ubiquitin protein ligase 4 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1601733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12302153 NEURL4 neuralized E3 ubiquitin protein ligase 4 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1601733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12302153 NEURL4 neuralized E3 ubiquitin protein ligase 4 gene DOID:630 genetic disease ISO RGD:1601733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302198 CNTROB centrobin, centriole duplication and spindle assembly protein gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1603924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12302198 CNTROB centrobin, centriole duplication and spindle assembly protein gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1603924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 12302198 CNTROB centrobin, centriole duplication and spindle assembly protein gene DOID:0112311 male infertility due to acephalic spermatozoa ISO RGD:1307488 D RGD:9068941 20211112 RGD DNA:insertion:intron 10 (rat) PMID:19710508|REF_RGD_ID:150521555 12302198 CNTROB centrobin, centriole duplication and spindle assembly protein gene DOID:11612 polycystic ovary syndrome ISO RGD:1603924 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12302198 CNTROB centrobin, centriole duplication and spindle assembly protein gene DOID:12177 common variable immunodeficiency ISO RGD:1603924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12302198 CNTROB centrobin, centriole duplication and spindle assembly protein gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12302198 CNTROB centrobin, centriole duplication and spindle assembly protein gene DOID:2729 dyskeratosis congenita ISO RGD:1603924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12302198 CNTROB centrobin, centriole duplication and spindle assembly protein gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1603924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12302198 CNTROB centrobin, centriole duplication and spindle assembly protein gene DOID:630 genetic disease ISO RGD:1603924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302251 TBC1D10B TBC1 domain family member 10B gene DOID:630 genetic disease ISO RGD:1607066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302260 ZNF521 zinc finger protein 521 gene DOID:1059 intellectual disability ISO RGD:1316488 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12302260 ZNF521 zinc finger protein 521 gene DOID:1324 lung cancer ISO RGD:1316488 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12302260 ZNF521 zinc finger protein 521 gene DOID:5419 schizophrenia ISO RGD:1316489 D RGD:9068941 20220825 MouseDO OMIM:181500 12302260 ZNF521 zinc finger protein 521 gene DOID:630 genetic disease ISO RGD:1316488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302280 SH3GLB2 SH3 domain containing GRB2 like, endophilin B2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1314186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12302280 SH3GLB2 SH3 domain containing GRB2 like, endophilin B2 gene DOID:630 genetic disease ISO RGD:1314186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302305 MARCHF8 membrane associated ring-CH-type finger 8 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1353860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17068819 12302335 PXDC1 PX domain containing 1 gene DOID:630 genetic disease ISO RGD:1322692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302353 MORF4L1 mortality factor 4 like 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1317423 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12302353 MORF4L1 mortality factor 4 like 1 gene DOID:2717 Bloom syndrome ISO RGD:1317423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12302353 MORF4L1 mortality factor 4 like 1 gene DOID:630 genetic disease ISO RGD:1317423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302353 MORF4L1 mortality factor 4 like 1 gene DOID:9256 colorectal cancer ISO RGD:1317423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12302369 MOB1A MOB kinase activator 1A gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1315956 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12302369 MOB1A MOB kinase activator 1A gene DOID:543 dystonia ISO RGD:1315956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12302369 MOB1A MOB kinase activator 1A gene DOID:630 genetic disease ISO RGD:1315956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302369 MOB1A MOB kinase activator 1A gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1315956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12302381 ZKSCAN4 zinc finger with KRAB and SCAN domains 4 gene DOID:11372 megacolon ISO RGD:1319105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12302381 ZKSCAN4 zinc finger with KRAB and SCAN domains 4 gene DOID:5419 schizophrenia ISO RGD:1319105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22037552 12302381 ZKSCAN4 zinc finger with KRAB and SCAN domains 4 gene DOID:630 genetic disease ISO RGD:1319105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302391 OR52E8C olfactory receptor family 52 subfamily E member 8C gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1349859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12302391 OR52E8C olfactory receptor family 52 subfamily E member 8C gene DOID:630 genetic disease ISO RGD:1349859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302394 LOC100686431 zinc finger and SCAN domain-containing protein 5B gene DOID:630 genetic disease ISO RGD:2293895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302403 NPB neuropeptide B gene DOID:11612 polycystic ovary syndrome ISO RGD:736156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12302403 NPB neuropeptide B gene DOID:630 genetic disease ISO RGD:736156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302423 TNNI3 troponin I3, cardiac type gene DOID:0050638 transthyretin amyloidosis ISO RGD:737204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis PMID:11815426|PMID:12860912|PMID:15524171|PMID:15607392|PMID:18175163|PMID:21310275|PMID:23967088|PMID:24033266|PMID:24510615|PMID:25324519|PMID:25741868|PMID:25940119|PMID:28492532 12302423 TNNI3 troponin I3, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:737204 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10098965|PMID:10731705|PMID:10806205|PMID:11055985|PMID:11121119|PMID:11724573|PMID:11735257|PMID:11801593|PMID:11815426|PMID:11853553|PMID:12044157|PMID:12531876|PMID:12707239|PMID:12746413|PMID:12860912|PMID:12974739|PMID:14575308|PMID:15070570|PMID:15201162|PMID:15519027|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15718266|PMID:15774859|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16274223|PMID:16288990|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17010989|PMID:17599605|PMID:17872964|PMID:17932326|PMID:18006163|PMID:18175163|PMID:18269819|PMID:18403758|PMID:18409188|PMID:18423659|PMID:18430738|PMID:18467357|PMID:18533079|PMID:18548271|PMID:19035361|PMID:19289050|PMID:19590045|PMID:19645627|PMID:19651143|PMID:20031602|PMID:20057144|PMID:20350521|PMID:20474083|PMID:20624503|PMID:20641121|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21799269|PMID:21839045|PMID:21846512|PMID:21896538|PMID:21967901|PMID:22301726|PMID:22361390|PMID:22429680|PMID:22464770|PMID:22500102|PMID:22675533|PMID:22876777|PMID:22940544|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23540544|PMID:23610579|PMID:23690394|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:24704860|PMID:25086479|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25685665|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26199943|PMID:26391394|PMID:26440512|PMID:26506446|PMID:26688388|PMID:26914223|PMID:26936621|PMID:27532257|PMID:27557662|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28382084|PMID:28492532|PMID:28498465|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29121657|PMID:29255176|PMID:29661763|PMID:30731207|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31447099|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32686758|PMID:33407484|PMID:33673806|PMID:34213952|PMID:34540771|PMID:35535697|PMID:7592712|PMID:9241277 12302423 TNNI3 troponin I3, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:737204 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy with or without skeletal myopathy PMID:10098965|PMID:10731705|PMID:10806205|PMID:11055985|PMID:11121119|PMID:11724573|PMID:11735257|PMID:11801593|PMID:11815426|PMID:11853553|PMID:12044157|PMID:12531876|PMID:12707239|PMID:12746413|PMID:12860912|PMID:12974739|PMID:14575308|PMID:15070570|PMID:15201162|PMID:15519027|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15718266|PMID:15774859|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16274223|PMID:16288990|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17010989|PMID:17599605|PMID:17872964|PMID:17932326|PMID:18006163|PMID:18175163|PMID:18269819|PMID:18403758|PMID:18409188|PMID:18423659|PMID:18430738|PMID:18467357|PMID:18533079|PMID:18548271|PMID:19035361|PMID:19289050|PMID:19590045|PMID:19645627|PMID:19651143|PMID:20031602|PMID:20057144|PMID:20350521|PMID:20474083|PMID:20624503|PMID:20641121|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21799269|PMID:21839045|PMID:21846512|PMID:21896538|PMID:21967901|PMID:22301726|PMID:22361390|PMID:22429680|PMID:22464770|PMID:22500102|PMID:22675533|PMID:22876777|PMID:22940544|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23540544|PMID:23610579|PMID:23690394|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:24704860|PMID:25086479|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25685665|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26199943|PMID:26391394|PMID:26440512|PMID:26506446|PMID:26688388|PMID:26914223|PMID:26936621|PMID:27532257|PMID:27557662|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28382084|PMID:28492532|PMID:28498465|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29121657|PMID:29255176|PMID:29661763|PMID:30731207|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31447099|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32686758|PMID:33407484|PMID:33673806|PMID:34213952|PMID:34540771|PMID:35050212|PMID:35535697|PMID:7592712|PMID:9241277 12302423 TNNI3 troponin I3, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:737204 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10098965|PMID:10731705|PMID:10806205|PMID:11055985|PMID:11121119|PMID:11724573|PMID:11735257|PMID:11801593|PMID:11815426|PMID:11853553|PMID:12044157|PMID:12531876|PMID:12707239|PMID:12746413|PMID:12860912|PMID:12923217|PMID:12974739|PMID:14575308|PMID:15070570|PMID:15201162|PMID:15519027|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15718266|PMID:15774859|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16274223|PMID:16288990|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17010989|PMID:17576681|PMID:17599605|PMID:17872964|PMID:17932326|PMID:18006163|PMID:18175163|PMID:18269819|PMID:18403758|PMID:18409188|PMID:18423659|PMID:18430738|PMID:18467357|PMID:18533079|PMID:18548271|PMID:18801787|PMID:19035361|PMID:19289050|PMID:19590045|PMID:19645627|PMID:19651143|PMID:20031602|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20350521|PMID:20474083|PMID:20569525|PMID:20624503|PMID:20641121|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21846512|PMID:21896538|PMID:21967901|PMID:22301726|PMID:22361390|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22579248|PMID:22579625|PMID:22675533|PMID:22765922|PMID:22876777|PMID:22940544|PMID:22958901|PMID:23140321|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23540544|PMID:23610579|PMID:23690394|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:24704860|PMID:24793961|PMID:25086479|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25685665|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26199943|PMID:26391394|PMID:26440512|PMID:26506446|PMID:26688388|PMID:26914223|PMID:26936621|PMID:27532257|PMID:27557662|PMID:27600940|PMID:27895589|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28359509|PMID:28382084|PMID:28408708|PMID:28420666|PMID:28436080|PMID:28492532|PMID:28498465|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29121657|PMID:29141175|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29661763|PMID:29875424|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30297972|PMID:30385303|PMID:30615648|PMID:30731207|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31447099|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32458740|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32758068|PMID:32830170|PMID:32870709|PMID:33407484|PMID:33487615|PMID:33495597|PMID:33673806|PMID:33906374|PMID:34036930|PMID:34137518|PMID:34213952|PMID:34286374|PMID:34540771|PMID:35050212|PMID:35535697|PMID:36129056|PMID:7592712|PMID:9241277|PMID:9536098 12302423 TNNI3 troponin I3, cardiac type gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10098965|PMID:10806205|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12707239|PMID:12860912|PMID:15070570|PMID:15201162|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:18408133|PMID:18423659|PMID:19033660|PMID:19289050|PMID:19449150|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20035081|PMID:20161772|PMID:20350521|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22112859|PMID:22301726|PMID:22429680|PMID:22579625|PMID:22675533|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23540544|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24510615|PMID:24704860|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26506446|PMID:26741492|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30279906|PMID:30297972|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33673806|PMID:33777698|PMID:34137518|PMID:35535697|PMID:9241277 12302423 TNNI3 troponin I3, cardiac type gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10098965|PMID:10806205|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12707239|PMID:12860912|PMID:15070570|PMID:15201162|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:18408133|PMID:18423659|PMID:19033660|PMID:19289050|PMID:19449150|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20035081|PMID:20161772|PMID:20350521|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22112859|PMID:22301726|PMID:22429680|PMID:22579625|PMID:22675533|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23540544|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24510615|PMID:24704860|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26506446|PMID:26741492|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30279906|PMID:30297972|PMID:30384889|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33673806|PMID:33777698|PMID:34137518|PMID:35535697|PMID:9241277 12302423 TNNI3 troponin I3, cardiac type gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737204 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10098965|PMID:10806205|PMID:11735257|PMID:12531876|PMID:12707239|PMID:12860912|PMID:15070570|PMID:15607392|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:18408133|PMID:18423659|PMID:19289050|PMID:19449150|PMID:20161772|PMID:20350521|PMID:20474083|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22301726|PMID:22429680|PMID:22464770|PMID:22675533|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23540544|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26440512|PMID:26741492|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29176140|PMID:29907873|PMID:30279906|PMID:31006259|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32686758|PMID:33407484|PMID:33673806|PMID:9241277 12302423 TNNI3 troponin I3, cardiac type gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10098965|PMID:10806205|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12707239|PMID:12860912|PMID:15070570|PMID:15201162|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:18408133|PMID:18423659|PMID:19033660|PMID:19289050|PMID:19449150|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20035081|PMID:20161772|PMID:20350521|PMID:20474083|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22112859|PMID:22301726|PMID:22429680|PMID:22464770|PMID:22579625|PMID:22675533|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23540544|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24503780|PMID:24510615|PMID:24704860|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26440512|PMID:26506446|PMID:26741492|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30279906|PMID:30297972|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33673806|PMID:33777698|PMID:34137518|PMID:35535697|PMID:9241277 12302423 TNNI3 troponin I3, cardiac type gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10098965|PMID:10806205|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12707239|PMID:12860912|PMID:15070570|PMID:15201162|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:18408133|PMID:18423659|PMID:19033660|PMID:19289050|PMID:19449150|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20035081|PMID:20161772|PMID:20350521|PMID:20474083|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22112859|PMID:22301726|PMID:22429680|PMID:22464770|PMID:22579625|PMID:22675533|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23540544|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24503780|PMID:24510615|PMID:24704860|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26440512|PMID:26506446|PMID:26741492|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30279906|PMID:30297972|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33673806|PMID:33777698|PMID:34137518|PMID:35535697|PMID:9241277 12302423 TNNI3 troponin I3, cardiac type gene DOID:0110313 hypertrophic cardiomyopathy 7 ISO RGD:737204 D RGD:7240710 20180130 OMIM 12302423 TNNI3 troponin I3, cardiac type gene DOID:0110313 hypertrophic cardiomyopathy 7 ISO RGD:737204 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 7 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 PMID:10098965|PMID:10731705|PMID:10806205|PMID:11055985|PMID:11121119|PMID:11724573|PMID:11735257|PMID:11801593|PMID:11815426|PMID:11853553|PMID:12044157|PMID:12531876|PMID:12707239|PMID:12860912|PMID:12923217|PMID:12974739|PMID:14575308|PMID:15070570|PMID:15201162|PMID:15519027|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15718266|PMID:15992656|PMID:16005017|PMID:16020591|PMID:16199542|PMID:16267253|PMID:16274223|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17932326|PMID:18006163|PMID:18175163|PMID:18403758|PMID:18423659|PMID:18430738|PMID:18533079|PMID:18548271|PMID:19035361|PMID:19289050|PMID:19645627|PMID:19651143|PMID:20031618|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20350521|PMID:20624503|PMID:20641121|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21846512|PMID:21896538|PMID:21967901|PMID:22072597|PMID:22086914|PMID:22301726|PMID:22361390|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22579248|PMID:22675533|PMID:22765922|PMID:22857948|PMID:22876777|PMID:22958901|PMID:23140321|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23540544|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:24704860|PMID:24973218|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25685665|PMID:25741868|PMID:25940119|PMID:25961037|PMID:26169204|PMID:26199943|PMID:26391394|PMID:26440512|PMID:26506446|PMID:26914223|PMID:27532257|PMID:27557662|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28436080|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30297972|PMID:30615648|PMID:30847666|PMID:30975432|PMID:31006259|PMID:3144325|PMID:31447099|PMID:31513939|PMID:31534214|PMID:31737537|PMID:31877599|PMID:31983221|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32758068|PMID:32830170|PMID:32885985|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33658040|PMID:33673806|PMID:34036930|PMID:34137518|PMID:34286374|PMID:35535697|PMID:9241277 12302423 TNNI3 troponin I3, cardiac type gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:737204 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1N PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18175163|PMID:18403758|PMID:19645627|PMID:20035081|PMID:20086309|PMID:20350521|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22876777|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28436080|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30297972|PMID:30615648|PMID:30847666|PMID:31006259|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31737537|PMID:31877599|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34137518|PMID:34286374|PMID:35535697|PMID:9241277 12302423 TNNI3 troponin I3, cardiac type gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:737204 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:28492532 12302423 TNNI3 troponin I3, cardiac type gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:737204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:28492532 12302423 TNNI3 troponin I3, cardiac type gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:737204 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:11735257|PMID:18006163|PMID:18467357|PMID:18533079|PMID:20057144|PMID:24033266|PMID:25741868|PMID:26688388|PMID:28492532|PMID:31568572|PMID:34213952|PMID:34286374|PMID:35050212|PMID:36129056|PMID:9241277 12302423 TNNI3 troponin I3, cardiac type gene DOID:0110459 dilated cardiomyopathy 1FF ISO RGD:737204 D RGD:7240710 20180130 OMIM 12302423 TNNI3 troponin I3, cardiac type gene DOID:0110459 dilated cardiomyopathy 1FF ISO RGD:737204 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1FF PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18175163|PMID:18403758|PMID:19590045|PMID:19645627|PMID:20035081|PMID:20086309|PMID:20350521|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22876777|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28436080|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30297972|PMID:30615648|PMID:30847666|PMID:31006259|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31737537|PMID:31877599|PMID:32458740|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34137518|PMID:34286374|PMID:35535697|PMID:9241277 12302423 TNNI3 troponin I3, cardiac type gene DOID:0110460 dilated cardiomyopathy 2A ISO RGD:737204 D RGD:7240710 20180130 OMIM 12302423 TNNI3 troponin I3, cardiac type gene DOID:0110460 dilated cardiomyopathy 2A ISO RGD:737204 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated cardiomyopathy 2A PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18006163|PMID:18175163|PMID:18403758|PMID:18467357|PMID:18533079|PMID:19590045|PMID:19645627|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20350521|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22876777|PMID:22940544|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26688388|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28436080|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30297972|PMID:30615648|PMID:30847666|PMID:31006259|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:32870709|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34137518|PMID:34213952|PMID:34286374|PMID:35050212|PMID:35535697|PMID:36129056|PMID:9241277 12302423 TNNI3 troponin I3, cardiac type gene DOID:0110626 primary ciliary dyskinesia 2 ISO RGD:737204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 2 PMID:24033266|PMID:25741868|PMID:28492532 12302423 TNNI3 troponin I3, cardiac type gene DOID:0110936 nemaline myopathy 5 ISO RGD:737204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5 PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532 12302423 TNNI3 troponin I3, cardiac type gene DOID:0111425 restrictive cardiomyopathy 1 ISO RGD:737204 D RGD:7240710 20180130 OMIM 12302423 TNNI3 troponin I3, cardiac type gene DOID:0111425 restrictive cardiomyopathy 1 ISO RGD:737204 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 PMID:10098965|PMID:10806205|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12707239|PMID:12746413|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16288990|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:17599605|PMID:18175163|PMID:18269819|PMID:18403758|PMID:18408133|PMID:18409188|PMID:18423659|PMID:19035361|PMID:19289050|PMID:19449150|PMID:19645627|PMID:19651143|PMID:20031602|PMID:20031618|PMID:20035081|PMID:20086309|PMID:20161772|PMID:20350521|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22675533|PMID:22876777|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25326637|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26741492|PMID:26914223|PMID:27532257|PMID:27557662|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28382084|PMID:28408708|PMID:28436080|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29661763|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30279906|PMID:30297972|PMID:30384889|PMID:30615648|PMID:30847666|PMID:31006259|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32182250|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33429969|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34137518|PMID:34286374|PMID:35535697|PMID:9241277 12302423 TNNI3 troponin I3, cardiac type gene DOID:114 heart disease ISO RGD:737204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19549929 12302423 TNNI3 troponin I3, cardiac type gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737204 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10098965|PMID:10731705|PMID:10806205|PMID:11055985|PMID:11121119|PMID:11724573|PMID:11735257|PMID:11801593|PMID:11815426|PMID:11853553|PMID:12044157|PMID:12531876|PMID:12707239|PMID:12746413|PMID:12860912|PMID:12923217|PMID:12974739|PMID:14575308|PMID:15070570|PMID:15201162|PMID:15519027|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15718266|PMID:15774859|PMID:15961398|PMID:15992656|PMID:16005017|PMID:16020591|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16274223|PMID:16288990|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17010989|PMID:17027633|PMID:17463320|PMID:17576681|PMID:17599605|PMID:17872964|PMID:17932326|PMID:18006163|PMID:18175163|PMID:18269819|PMID:18403758|PMID:18408133|PMID:18409188|PMID:18414213|PMID:18423659|PMID:18430738|PMID:18467357|PMID:18533079|PMID:18548271|PMID:18801787|PMID:19033660|PMID:19035361|PMID:19289050|PMID:19449150|PMID:19590045|PMID:19645627|PMID:19651143|PMID:19754353|PMID:19914256|PMID:20031602|PMID:20031618|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20161772|PMID:20215591|PMID:20350521|PMID:20474083|PMID:20530761|PMID:20569525|PMID:20617149|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21846512|PMID:21896538|PMID:21967901|PMID:22072597|PMID:22086914|PMID:22112859|PMID:22301726|PMID:22361390|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22579248|PMID:22579625|PMID:22675533|PMID:22765922|PMID:22857948|PMID:22876777|PMID:22940544|PMID:22958901|PMID:23140321|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23540544|PMID:23610579|PMID:23690394|PMID:23785128|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24503780|PMID:24510615|PMID:24704860|PMID:24793961|PMID:24973218|PMID:25086479|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25324519|PMID:25326637|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25685665|PMID:25741868|PMID:25771144|PMID:25940119|PMID:25961037|PMID:26169204|PMID:26199943|PMID:26391394|PMID:26440512|PMID:26506446|PMID:26688388|PMID:26741492|PMID:26914223|PMID:26936621|PMID:27532257|PMID:27557662|PMID:27600940|PMID:27895589|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28255936|PMID:28356264|PMID:28359509|PMID:28382084|PMID:28408708|PMID:28420666|PMID:28436080|PMID:28492532|PMID:28498465|PMID:28615295|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29121657|PMID:29141175|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29661763|PMID:29710196|PMID:29875424|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30279906|PMID:30297972|PMID:30384889|PMID:30385303|PMID:30615648|PMID:30731207|PMID:30847666|PMID:30953456|PMID:30975432|PMID:31006259|PMID:31112419|PMID:31333075|PMID:3144325|PMID:31447099|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:31983221|PMID:32182250|PMID:32458740|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32758068|PMID:32830170|PMID:32870709|PMID:32885985|PMID:33019804|PMID:33407484|PMID:33429969|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33658040|PMID:33673806|PMID:33777698|PMID:33906374|PMID:34036930|PMID:34137518|PMID:34213952|PMID:34286374|PMID:34540771|PMID:35050212|PMID:35535697|PMID:36129056|PMID:7592712|PMID:9241277|PMID:9536098 12302423 TNNI3 troponin I3, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:737204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18175163|PMID:18414213|PMID:20474083|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:22464770|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25326637|PMID:25351510|PMID:25524337|PMID:25741868|PMID:25940119|PMID:26440512|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28492532|PMID:28771489|PMID:28790153|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31534214|PMID:31568572|PMID:31877599|PMID:9241277 12302423 TNNI3 troponin I3, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:737204 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18006163|PMID:18175163|PMID:18414213|PMID:18467357|PMID:18533079|PMID:20057144|PMID:20474083|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:22464770|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25351510|PMID:25524337|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26688388|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28492532|PMID:28771489|PMID:28790153|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32686758|PMID:33407484|PMID:33673806|PMID:34213952|PMID:9241277 12302423 TNNI3 troponin I3, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:737204 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18006163|PMID:18175163|PMID:18414213|PMID:18467357|PMID:18533079|PMID:20057144|PMID:20474083|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:22464770|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25351510|PMID:25524337|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26688388|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28492532|PMID:28771489|PMID:28790153|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32686758|PMID:33407484|PMID:33673806|PMID:34213952|PMID:35050212|PMID:9241277 12302423 TNNI3 troponin I3, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:737204 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18006163|PMID:18175163|PMID:18403758|PMID:18414213|PMID:18467357|PMID:18533079|PMID:19645627|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20350521|PMID:20474083|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26688388|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30297972|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32492895|PMID:32686758|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33495597|PMID:33673806|PMID:34137518|PMID:34213952|PMID:35050212|PMID:35535697|PMID:9241277 12302423 TNNI3 troponin I3, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:737204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18006163|PMID:18175163|PMID:18403758|PMID:18414213|PMID:18467357|PMID:18533079|PMID:19645627|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20350521|PMID:20474083|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26688388|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30297972|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32458740|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33495597|PMID:33673806|PMID:34137518|PMID:34213952|PMID:35050212|PMID:35535697|PMID:9241277 12302423 TNNI3 troponin I3, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:737204 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18006163|PMID:18175163|PMID:18403758|PMID:18414213|PMID:18467357|PMID:18533079|PMID:19645627|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20350521|PMID:20474083|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22876777|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26688388|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28436080|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30297972|PMID:30615648|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32458740|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34137518|PMID:34213952|PMID:34286374|PMID:35050212|PMID:35535697|PMID:36129056|PMID:9241277 12302423 TNNI3 troponin I3, cardiac type gene DOID:3191 nemaline myopathy ISO RGD:737204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Recessive PMID:24033266|PMID:25741868|PMID:28492532 12302423 TNNI3 troponin I3, cardiac type gene DOID:3393 coronary artery disease ISO RGD:737204 D RGD:9068941 20200609 RGD PMID:12221049|REF_RGD_ID:1580780 12302423 TNNI3 troponin I3, cardiac type gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:737204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:11815426|PMID:12860912|PMID:15524171|PMID:15607392|PMID:18175163|PMID:18414213|PMID:20474083|PMID:21310275|PMID:21511876|PMID:22876777|PMID:23967088|PMID:24033266|PMID:24503780|PMID:24510615|PMID:25324519|PMID:25741868|PMID:25940119|PMID:26440512|PMID:28492532|PMID:9241277 12302423 TNNI3 troponin I3, cardiac type gene DOID:397 restrictive cardiomyopathy ISO RGD:737204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:10098965|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12746413|PMID:12860912|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16288990|PMID:16531415|PMID:17027633|PMID:17463320|PMID:17599605|PMID:18175163|PMID:18269819|PMID:18408133|PMID:18409188|PMID:18414213|PMID:18423659|PMID:18801787|PMID:19035361|PMID:19289050|PMID:19449150|PMID:19651143|PMID:20031602|PMID:20031618|PMID:20035081|PMID:20161772|PMID:20474083|PMID:20569525|PMID:20617149|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21839045|PMID:22675533|PMID:23283745|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24474965|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25324519|PMID:25440410|PMID:25611685|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26741492|PMID:27532257|PMID:27557662|PMID:27895589|PMID:28255936|PMID:28382084|PMID:28408708|PMID:28492532|PMID:28615295|PMID:29176140|PMID:29255176|PMID:29661763|PMID:29710196|PMID:29907873|PMID:30279906|PMID:31333075|PMID:31568572|PMID:31737537|PMID:31912959|PMID:9241277 12302423 TNNI3 troponin I3, cardiac type gene DOID:5844 myocardial infarction ISO RGD:737204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12359538 12302423 TNNI3 troponin I3, cardiac type gene DOID:630 genetic disease ISO RGD:737204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12302423 TNNI3 troponin I3, cardiac type gene DOID:820 myocarditis ISO RGD:737204 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myocarditis PMID:11735257|PMID:18006163|PMID:18467357|PMID:18533079|PMID:20057144|PMID:24033266|PMID:25741868|PMID:26688388|PMID:28492532|PMID:31568572|PMID:34213952|PMID:34286374|PMID:35050212|PMID:36129056|PMID:9241277 12302423 TNNI3 troponin I3, cardiac type gene DOID:9000299 cardiac amyloidosis ISO RGD:737204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:11815426|PMID:12860912|PMID:15524171|PMID:15607392|PMID:18175163|PMID:21310275|PMID:23967088|PMID:24033266|PMID:24510615|PMID:25324519|PMID:25741868|PMID:25940119|PMID:28492532 12302423 TNNI3 troponin I3, cardiac type gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:737204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:15774859|PMID:17010989|PMID:17872964|PMID:23690394|PMID:24033266|PMID:25741868|PMID:26936621|PMID:27532257|PMID:28492532|PMID:30731207|PMID:34540771|PMID:7592712 12302423 TNNI3 troponin I3, cardiac type gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:737204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:11815426|PMID:12860912|PMID:15524171|PMID:15607392|PMID:18175163|PMID:21310275|PMID:23967088|PMID:24033266|PMID:24510615|PMID:25324519|PMID:25741868|PMID:25940119|PMID:28492532 12302423 TNNI3 troponin I3, cardiac type gene DOID:9001686 Acute Coronary Syndrome ISO RGD:737204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15966572 12302423 TNNI3 troponin I3, cardiac type gene DOID:9007 sudden infant death syndrome ISO RGD:737204 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:10098965|PMID:11735257|PMID:12531876|PMID:12707239|PMID:12746413|PMID:15607392|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16288990|PMID:16531415|PMID:17027633|PMID:17463320|PMID:17599605|PMID:18269819|PMID:18408133|PMID:18409188|PMID:18423659|PMID:19035361|PMID:19289050|PMID:19449150|PMID:19651143|PMID:20031602|PMID:20161772|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21533915|PMID:21839045|PMID:22301726|PMID:22675533|PMID:23283745|PMID:23906401|PMID:24033266|PMID:24111713|PMID:24474965|PMID:25132132|PMID:25440410|PMID:25611685|PMID:25741868|PMID:26169204|PMID:26741492|PMID:27532257|PMID:27557662|PMID:28382084|PMID:28492532|PMID:29176140|PMID:29661763|PMID:29907873|PMID:30279906|PMID:31912959|PMID:9241277 12302423 TNNI3 troponin I3, cardiac type gene DOID:9007096 Stroke ISO RGD:737204 D RGD:9068941 20200609 RGD PMID:15604421|REF_RGD_ID:1580421 12302423 TNNI3 troponin I3, cardiac type gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:62344 D RGD:9068941 20230429 RGD PMID:30259997|REF_RGD_ID:329337366 12302423 TNNI3 troponin I3, cardiac type gene DOID:9007925 Sudden Cardiac Death ISO RGD:737204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest PMID:21839045|PMID:25741868 12302423 TNNI3 troponin I3, cardiac type gene DOID:9562 primary ciliary dyskinesia ISO RGD:737204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:22387996|PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 12302435 COMMD1 copper metabolism domain containing 1 gene DOID:1205 allergic disease ISO RGD:1323402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22216203 12302435 COMMD1 copper metabolism domain containing 1 gene DOID:5082 liver cirrhosis ISO RGD:1323402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17919502 12302435 COMMD1 copper metabolism domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1323402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12302435 COMMD1 copper metabolism domain containing 1 gene DOID:630 genetic disease ISO RGD:1323402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302435 COMMD1 copper metabolism domain containing 1 gene DOID:893 Wilson disease IAGP D RGD:12801476 20230426 OMIA Copper toxicosis, COMMD1-related PMID:7212417|PMID:1380748|PMID:8432554|PMID:7114265|PMID:8989491|PMID:9587195|PMID:6710813|PMID:7065120|PMID:6639527|PMID:3343179|PMID:9949209|PMID:10384054|PMID:10442980|PMID:10585777|PMID:10901220|PMID:10803990|PMID:10772489|PMID:10818210|PMID:11234968|PMID:11393371|PMID:11809725|PMID:12450209|PMID:12547404|PMID:15205742|PMID:12925897|PMID:14568250|PMID:12816967|PMID:15566097|PMID:15028882|PMID:12648098|PMID:16293123|PMID:17572118|PMID:17099181|PMID:16868807|PMID:16649058|PMID:18305350|PMID:22879914|PMID:22029820|PMID:17355395|PMID:24758744|PMID:6939891|PMID:6869968|PMID:31179308|PMID:31557851|PMID:32053895|PMID:31504675|PMID:33129558|PMID:33668783|PMID:37038639 12302435 COMMD1 copper metabolism domain containing 1 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:1323402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 12302435 COMMD1 copper metabolism domain containing 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1323402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23583003 12302435 COMMD1 copper metabolism domain containing 1 gene DOID:9006855 Dog Diseases ISO RGD:1323402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17919502 12302435 COMMD1 copper metabolism domain containing 1 gene DOID:9008510 Chronic Hepatitis ISO RGD:1323402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914|PMID:25053573 12302442 HTR1D 5-hydroxytryptamine receptor 1D gene DOID:10933 obsessive-compulsive disorder ISO RGD:736440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10621951 12302442 HTR1D 5-hydroxytryptamine receptor 1D gene DOID:12849 autistic disorder ISO RGD:736440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19038234 12302442 HTR1D 5-hydroxytryptamine receptor 1D gene DOID:630 genetic disease ISO RGD:736440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302442 HTR1D 5-hydroxytryptamine receptor 1D gene DOID:9006024 Hypotension ISO RGD:736440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9109356 12302442 HTR1D 5-hydroxytryptamine receptor 1D gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:736440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12302447 SLC4A2 solute carrier family 4 member 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:733302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 12302447 SLC4A2 solute carrier family 4 member 2 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:3711 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, altered localization:cholangiocyte, basolateral plasma membrane PMID:18988797|REF_RGD_ID:2307071 12302447 SLC4A2 solute carrier family 4 member 2 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:733302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 12302447 SLC4A2 solute carrier family 4 member 2 gene DOID:11716 prediabetes syndrome ISO RGD:3711 D RGD:9068941 20200609 RGD protein:increased expression:epididymis PMID:24105628|REF_RGD_ID:9999379 12302447 SLC4A2 solute carrier family 4 member 2 gene DOID:12236 primary biliary cholangitis ISO RGD:733302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18188457 12302447 SLC4A2 solute carrier family 4 member 2 gene DOID:14219 renal tubular acidosis ISO RGD:733302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:31959358 12302447 SLC4A2 solute carrier family 4 member 2 gene DOID:2843 long QT syndrome ISO RGD:733302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 12302447 SLC4A2 solute carrier family 4 member 2 gene DOID:630 genetic disease ISO RGD:733302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302447 SLC4A2 solute carrier family 4 member 2 gene DOID:899 choledochal cyst ISO RGD:733302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 12302447 SLC4A2 solute carrier family 4 member 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12302447 SLC4A2 solute carrier family 4 member 2 gene DOID:9004633 Autosomal Recessive Osteopetrosis 9 ISO RGD:733302 D RGD:7240710 20230510 OMIM 12302447 SLC4A2 solute carrier family 4 member 2 gene DOID:9007331 Alkalosis ISO RGD:3711 D RGD:9068941 20200609 RGD associated with Hypercalcemia;protein:decreased expression:kidney outer medulla inner stripe PMID:17367404|REF_RGD_ID:9999377 12302447 SLC4A2 solute carrier family 4 member 2 gene DOID:9007406 Distal Renal Tubular Acidosis ISO RGD:733302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:31959358 12302478 TXLNB taxilin beta gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1317484 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12302478 TXLNB taxilin beta gene DOID:630 genetic disease ISO RGD:1317484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302492 TFB1M transcription factor B1, mitochondrial gene DOID:630 genetic disease ISO RGD:1351892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302503 ARHGAP42 Rho GTPase activating protein 42 gene DOID:1059 intellectual disability ISO RGD:3500508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12302503 ARHGAP42 Rho GTPase activating protein 42 gene DOID:12704 ataxia telangiectasia ISO RGD:3500508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12302503 ARHGAP42 Rho GTPase activating protein 42 gene DOID:630 genetic disease ISO RGD:3500508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302537 MAP6 microtubule associated protein 6 gene DOID:1059 intellectual disability ISO RGD:1606581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12302537 MAP6 microtubule associated protein 6 gene DOID:5419 schizophrenia ISO RGD:62096 D RGD:9068941 20220825 MouseDO OMIM:181500 12302537 MAP6 microtubule associated protein 6 gene DOID:630 genetic disease ISO RGD:1606581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302537 MAP6 microtubule associated protein 6 gene DOID:9002362 Hyperkinesis ISO RGD:1606581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16046005 12302550 TLN2 talin 2 gene DOID:2661 myoepithelioma ISO RGD:1350417 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12302550 TLN2 talin 2 gene DOID:2717 Bloom syndrome ISO RGD:1350417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12302550 TLN2 talin 2 gene DOID:630 genetic disease ISO RGD:1350417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302550 TLN2 talin 2 gene DOID:9256 colorectal cancer ISO RGD:1350417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12302630 NUP35 nucleoporin 35 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1550583 D RGD:9068941 20220825 MouseDO 12302630 NUP35 nucleoporin 35 gene DOID:10316 pneumoconiosis ISO RGD:1353367 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 12302630 NUP35 nucleoporin 35 gene DOID:13938 amenorrhea ISO RGD:1353367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12302630 NUP35 nucleoporin 35 gene DOID:630 genetic disease ISO RGD:1353367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302643 ORC2 origin recognition complex subunit 2 gene DOID:630 genetic disease ISO RGD:1323514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302643 ORC2 origin recognition complex subunit 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1323514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12302643 ORC2 origin recognition complex subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12302676 RPL9 ribosomal protein L9 gene DOID:630 genetic disease ISO RGD:736467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302676 RPL9 ribosomal protein L9 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:736467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency PMID:28492532 12302676 RPL9 ribosomal protein L9 gene DOID:9004484 Sepsis ISO RGD:736467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27978524 12302688 TUBB6 tubulin beta 6 class V gene DOID:0050944 spastic ataxia 5 ISO RGD:1343714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 5 PMID:25741868|PMID:26467025|PMID:27165006|PMID:28492532 12302688 TUBB6 tubulin beta 6 class V gene DOID:0050977 spinocerebellar ataxia type 28 ISO RGD:1343714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 28 PMID:25741868|PMID:26467025|PMID:27165006|PMID:28492532 12302688 TUBB6 tubulin beta 6 class V gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1343714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12302688 TUBB6 tubulin beta 6 class V gene DOID:0080840 optic atrophy 12 ISO RGD:1343714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic atrophy 12 PMID:25741868 12302688 TUBB6 tubulin beta 6 class V gene DOID:1059 intellectual disability ISO RGD:1343714 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12302688 TUBB6 tubulin beta 6 class V gene DOID:543 dystonia ISO RGD:1343714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 12302688 TUBB6 tubulin beta 6 class V gene DOID:630 genetic disease ISO RGD:1343714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12302688 TUBB6 tubulin beta 6 class V gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12302688 TUBB6 tubulin beta 6 class V gene DOID:9008248 Congenital Facial Palsy with Ptosis and Velopharyngeal Dysfunction ISO RGD:1343714 D RGD:7240710 20190315 OMIM 12302688 TUBB6 tubulin beta 6 class V gene DOID:9008248 Congenital Facial Palsy with Ptosis and Velopharyngeal Dysfunction ISO RGD:1343714 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Facial palsy, congenital, with ptosis and velopharyngeal dysfunction PMID:25741868|PMID:29016863 12302696 TSPYL4 TSPY like 4 gene DOID:0060163 body dysmorphic disorder ISO RGD:1315389 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 12302696 TSPYL4 TSPY like 4 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1315389 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12302696 TSPYL4 TSPY like 4 gene DOID:1909 melanoma ISO RGD:1315389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12302696 TSPYL4 TSPY like 4 gene DOID:630 genetic disease ISO RGD:1315389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302701 DYNLT4 dynein light chain Tctex-type 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606104 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12302701 DYNLT4 dynein light chain Tctex-type 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12302701 DYNLT4 dynein light chain Tctex-type 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606104 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12302701 DYNLT4 dynein light chain Tctex-type 4 gene DOID:630 genetic disease ISO RGD:1606104 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302701 DYNLT4 dynein light chain Tctex-type 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:30057029 12302716 GAA alpha glucosidase gene DOID:0050700 cardiomyopathy ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25466677|PMID:25741868|PMID:27183828|PMID:28492532|PMID:29149851|PMID:31076647 12302716 GAA alpha glucosidase gene DOID:0060698 hyperekplexia 3 ISO RGD:1353184 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperekplexia 3 PMID:17723315|PMID:19588081|PMID:22658377|PMID:25681614|PMID:25741868|PMID:28492532|PMID:31086307|PMID:7981676|PMID:9535769 12302716 GAA alpha glucosidase gene DOID:0080000 muscular disease ISO RGD:1353184 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:11071489|PMID:14695532|PMID:15986226|PMID:16433701|PMID:16531044|PMID:16702877|PMID:16917947|PMID:17210890|PMID:17616415|PMID:17643989|PMID:17723315|PMID:17881425|PMID:18607768|PMID:19588081|PMID:20301438|PMID:20350966|PMID:20559845|PMID:21109266|PMID:21228398|PMID:21439876|PMID:21550241|PMID:21967859|PMID:22595200|PMID:22613277|PMID:22676651|PMID:22975760|PMID:23417379|PMID:24008051|PMID:24033266|PMID:24150945|PMID:24158270|PMID:24245577|PMID:24590251|PMID:24844452|PMID:2510307|PMID:25103075|PMID:25356970|PMID:25741868|PMID:25846667|PMID:26231297|PMID:26800218|PMID:27170567|PMID:27189384|PMID:27460347|PMID:27649523|PMID:27708273|PMID:28032299|PMID:28492532|PMID:28694071|PMID:28951071|PMID:29181627|PMID:29326002|PMID:30275481|PMID:30314719|PMID:30564623|PMID:30655185|PMID:30827497|PMID:31086307|PMID:31676142|PMID:31980526|PMID:32071926|PMID:32528171|PMID:32721234|PMID:32860008|PMID:34906502|PMID:7668832|PMID:7717400|PMID:7881425|PMID:8558570|PMID:8990003 12302716 GAA alpha glucosidase gene DOID:0080600 COVID-19 ISO RGD:1353184 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12302716 GAA alpha glucosidase gene DOID:0081329 glycogen storage disease I ISO RGD:1353184 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency 12302716 GAA alpha glucosidase gene DOID:0110623 primary ciliary dyskinesia 15 ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 15 PMID:24033266|PMID:25741868|PMID:28492532 12302716 GAA alpha glucosidase gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1353184 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:25741868 12302716 GAA alpha glucosidase gene DOID:10976 membranous glomerulonephritis ISO RGD:1353184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15466083 12302716 GAA alpha glucosidase gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:22644586|PMID:25741868|PMID:28492532 12302716 GAA alpha glucosidase gene DOID:12930 dilated cardiomyopathy ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 12302716 GAA alpha glucosidase gene DOID:2747 glycogen storage disease ISO RGD:1353184 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glycogen storage disease PMID:17092519|PMID:18458862|PMID:19790257|PMID:19862843|PMID:20202878|PMID:21232767|PMID:21471980|PMID:21757382|PMID:23430493|PMID:23884227|PMID:24033266|PMID:24444888|PMID:25093132|PMID:25213570|PMID:25526786|PMID:25741868|PMID:27099502|PMID:27363342|PMID:28433475|PMID:28492532|PMID:29124014|PMID:29451150|PMID:30275481|PMID:30943998|PMID:31589614|PMID:31931849|PMID:31953985|PMID:31980526|PMID:32126021|PMID:33673364|PMID:34020684|PMID:7981676|PMID:9535769 12302716 GAA alpha glucosidase gene DOID:2749 glycogen storage disease Ia ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatorenal glycogenosis 12302716 GAA alpha glucosidase gene DOID:2750 glycogen storage disease IV ISO RGD:1353184 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type IV PMID:11071489|PMID:14695532|PMID:15986226|PMID:16433701|PMID:16531044|PMID:16702877|PMID:16917947|PMID:17210890|PMID:17616415|PMID:17643989|PMID:17723315|PMID:17881425|PMID:18607768|PMID:19588081|PMID:20301438|PMID:20350966|PMID:20559845|PMID:21109266|PMID:21228398|PMID:21439876|PMID:21550241|PMID:21967859|PMID:22595200|PMID:22613277|PMID:22676651|PMID:22975760|PMID:23417379|PMID:24008051|PMID:24033266|PMID:24150945|PMID:24158270|PMID:24245577|PMID:24590251|PMID:24844452|PMID:2510307|PMID:25103075|PMID:25356970|PMID:25741868|PMID:25846667|PMID:26231297|PMID:26800218|PMID:27170567|PMID:27189384|PMID:27460347|PMID:27649523|PMID:27708273|PMID:28032299|PMID:28492532|PMID:28694071|PMID:28951071|PMID:29181627|PMID:29326002|PMID:30275481|PMID:30314719|PMID:30564623|PMID:30655185|PMID:30827497|PMID:31086307|PMID:31676142|PMID:31980526|PMID:32071926|PMID:32528171|PMID:32721234|PMID:32860008|PMID:34906502|PMID:7668832|PMID:7717400|PMID:7881425|PMID:8558570|PMID:8990003 12302716 GAA alpha glucosidase gene DOID:2750 glycogen storage disease IV treatment ISO RGD:1550659 D RGD:9068941 20200609 RGD PMID:27747161|REF_RGD_ID:25671409 12302716 GAA alpha glucosidase gene DOID:2752 glycogen storage disease II IAGP D RGD:12801476 20220629 OMIA Glycogen storage disease II PMID:5270856|PMID:3901497|PMID:3923581|PMID:3921759|PMID:6391168|PMID:6408305|PMID:7041988|PMID:23457621|PMID:33348688|PMID:25224826 12302716 GAA alpha glucosidase gene DOID:2752 glycogen storage disease II ISO RGD:1353184 D RGD:7240710 20180130 OMIM 12302716 GAA alpha glucosidase gene DOID:2752 glycogen storage disease II ISO RGD:1353184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type II, infantile | ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:10189220|PMID:10206684|PMID:10338092|PMID:10377006|PMID:10528311|PMID:10737124|PMID:11053688|PMID:11071489|PMID:1109266|PMID:11343339|PMID:11738358|PMID:11854846|PMID:11854868|PMID:11927738|PMID:11949932|PMID:12213618|PMID:12601120|PMID:12897283|PMID:12923862|PMID:14643388|PMID:14695532|PMID:14972326|PMID:15048888|PMID:15121988|PMID:15145338|PMID:15366815|PMID:15501829|PMID:15668445|PMID:15986226|PMID:16199547|PMID:16433701|PMID:16478160|PMID:1652892|PMID:16531044|PMID:16580018|PMID:16702877|PMID:16782080|PMID:16838077|PMID:16857770|PMID:16860134|PMID:16917947|PMID:17027861|PMID:17041744|PMID:17056254|PMID:17092519|PMID:17095274|PMID:17151339|PMID:17210890|PMID:17213836|PMID:17573812|PMID:17576681|PMID:17616415|PMID:17643989|PMID:17723315|PMID:17805474|PMID:17881425|PMID:17915575|PMID:18211760|PMID:18285536|PMID:18301443|PMID:18414213|PMID:18425781|PMID:18429042|PMID:18434155|PMID:18458862|PMID:18495398|PMID:18505979|PMID:18535739|PMID:1856189|PMID:18607768|PMID:1862843|PMID:18757064|PMID:1895140|PMID:1898413|PMID:18995995|PMID:19067231|PMID:19206169|PMID:19343043|PMID:19472353|PMID:19588081|PMID:19609281|PMID:19775921|PMID:19790257|PMID:19862843|PMID:19948615|PMID:19966354|PMID:20033296|PMID:20080426|PMID:20202878|PMID:20301438|PMID:20308911|PMID:20350966|PMID:20437613|PMID:20464284|PMID:20472203|PMID:20559845|PMID:20638881|PMID:20817528|PMID:20826098|PMID:20830524|PMID:21039225|PMID:21109266|PMID:2111708|PMID:21179066|PMID:21216089|PMID:21228398|PMID:21232767|PMID:21439876|PMID:21471980|PMID:21484825|PMID:21488246|PMID:21488291|PMID:21488292|PMID:21550241|PMID:21605996|PMID:21637107|PMID:21644219|PMID:21676566|PMID:21687968|PMID:21704464|PMID:21757382|PMID:21803581|PMID:21889385|PMID:21920843|PMID:21926084|PMID:21940687|PMID:21967859|PMID:21972175|PMID:21982629|PMID:21984055|PMID:22002441|PMID:22027144|PMID:2203258|PMID:22081099|PMID:22133539|PMID:22185990|PMID:22194990|PMID:22196155|PMID:22237443|PMID:22252923|PMID:22253258|PMID:22365055|PMID:22521436|PMID:2252923|PMID:22538254|PMID:22555271|PMID:22595200|PMID:22613277|PMID:22644586|PMID:22658377|PMID:22676651|PMID:22704482|PMID:22711147|PMID:22791670|PMID:22958975|PMID:22975760|PMID:22980766|PMID:22990675|PMID:23000108|PMID:23013746|PMID:23062590|PMID:23146291|PMID:23147228|PMID:23160972|PMID:23266370|PMID:23350563|PMID:23402890|PMID:23417379|PMID:23418865|PMID:23430493|PMID:23430500|PMID:23430560|PMID:23430847|PMID:23430912|PMID:23430949|PMID:23463700|PMID:23566438|PMID:23601496|PMID:23632029|PMID:23632174|PMID:23668440|PMID:23757202|PMID:23787031|PMID:23825616|PMID:23843830|PMID:23884227|PMID:24008051|PMID:24008937|PMID:24011652|PMID:24016645|PMID:24027232|PMID:24033266|PMID:24107549|PMID:24150945|PMID:24158270|PMID:24169249|PMID:24190153|PMID:24215330|PMID:24245577|PMID:24269976|PMID:24273659|PMID:24337590|PMID:24338761|PMID:24383498|PMID:24384324|PMID:24395639|PMID:24399866|PMID:24444888|PMID:24495340|PMID:24513544|PMID:24590251|PMID:24627108|PMID:24715333|PMID:24844452|PMID:24872213|PMID:24923245|PMID:24976573|PMID:25026126|PMID:25036864|PMID:25037089|PMID:25052852|PMID:25093132|PMID:2510307|PMID:25103075|PMID:25139343|PMID:25155446|PMID:25213570|PMID:25243733|PMID:25326635|PMID:25356970|PMID:25388776|PMID:25396301|PMID:25409744|PMID:25444528|PMID:25451853|PMID:25455803|PMID:25466677|PMID:25488666|PMID:25525159|PMID:25526786|PMID:25544546|PMID:25612604|PMID:25614309|PMID:25626711|PMID:25673129|PMID:25681614|PMID:25687148|PMID:25687635|PMID:25703594|PMID:25712382|PMID:25741864|PMID:25741868|PMID:25752415|PMID:25758767|PMID:25783438|PMID:25786784|PMID:25846667|PMID:25973016|PMID:25998610|PMID:26031770|PMID:26160551|PMID:26167453|PMID:26199952|PMID:26231297|PMID:26253708|PMID:26310554|PMID:26349193|PMID:26467025|PMID:26497565|PMID:26572913|PMID:26575883|PMID:26594346|PMID:26693141|PMID:26800218|PMID:26830551|PMID:26873529|PMID:26913919|PMID:26946079|PMID:27008195|PMID:27099502|PMID:27142047|PMID:27170567|PMID:27183828|PMID:27189384|PMID:27193587|PMID:27238910 12302716 GAA alpha glucosidase gene DOID:2752 glycogen storage disease II ISO RGD:1353184 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type II, infantile | ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:27344650|PMID:27363342|PMID:27417441|PMID:27460347|PMID:27623443|PMID:27649523|PMID:27666774|PMID:27692865|PMID:27708273|PMID:27711114|PMID:27896092|PMID:27927596|PMID:28032299|PMID:28182897|PMID:28196920|PMID:28394184|PMID:28433475|PMID:28450385|PMID:28490439|PMID:28492532|PMID:28554557|PMID:28592009|PMID:28600779|PMID:28624228|PMID:28648663|PMID:28657663|PMID:28694071|PMID:28763149|PMID:28814660|PMID:28838325|PMID:28900456|PMID:28951071|PMID:28957316|PMID:29044175|PMID:29046207|PMID:29061980|PMID:29122469|PMID:29124014|PMID:29143201|PMID:29149851|PMID:29181627|PMID:29205646|PMID:29289479|PMID:29315315|PMID:29325298|PMID:29326002|PMID:29390460|PMID:29422078|PMID:29428273|PMID:29451150|PMID:29523196|PMID:29556838|PMID:29573408|PMID:29637184|PMID:29653542|PMID:29869463|PMID:29880332|PMID:29889338|PMID:29946513|PMID:30022036|PMID:30023291|PMID:30049495|PMID:30076350|PMID:30093193|PMID:30105547|PMID:30155607|PMID:30214072|PMID:30275481|PMID:30281819|PMID:30293248|PMID:30314719|PMID:30360039|PMID:30371346|PMID:30414707|PMID:30442156|PMID:3049072|PMID:30510819|PMID:30564623|PMID:30655185|PMID:30711607|PMID:30737479|PMID:30778879|PMID:30827497|PMID:30897595|PMID:30943998|PMID:31076647|PMID:31086307|PMID:31130284|PMID:31193175|PMID:31228295|PMID:31254424|PMID:31301153|PMID:31342611|PMID:31392188|PMID:31395954|PMID:31439017|PMID:31467850|PMID:31510962|PMID:31589614|PMID:31606152|PMID:31619483|PMID:31637888|PMID:31676142|PMID:31710733|PMID:31729605|PMID:31743840|PMID:31847883|PMID:31875618|PMID:31899940|PMID:31904026|PMID:31915562|PMID:31931849|PMID:31953985|PMID:31965297|PMID:31980526|PMID:32012848|PMID:32014045|PMID:32064362|PMID:32071926|PMID:32125626|PMID:32126021|PMID:32248831|PMID:32317649|PMID:32504392|PMID:32518148|PMID:32528171|PMID:32711049|PMID:32721234|PMID:32802993|PMID:32821428|PMID:32860008|PMID:32888769|PMID:33013846|PMID:33073003|PMID:33073007|PMID:33073027|PMID:33202836|PMID:33250842|PMID:33301762|PMID:33393119|PMID:33552729|PMID:33560568|PMID:33673364|PMID:33717985|PMID:33741225|PMID:33972680|PMID:33996274|PMID:34020684|PMID:34220802|PMID:34426522|PMID:34539730|PMID:34602496|PMID:34639227|PMID:34647686|PMID:34852371|PMID:34864681|PMID:34906502|PMID:34995642|PMID:36310651|PMID:5614309|PMID:7603530|PMID:7668832|PMID:7695647|PMID:7717400|PMID:7866409|PMID:7881422|PMID:7881425|PMID:7945303|PMID:7981676|PMID:8094613|PMID:8401535|PMID:8429042|PMID:8435067|PMID:8558570|PMID:8604985|PMID:8834250|PMID:8912788|PMID:8935410|PMID:8990003|PMID:9196050|PMID:9259196|PMID:9266392|PMID:9425285|PMID:9521422|PMID:9529346|PMID:9535769|PMID:9536098|PMID:9554747|PMID:9660056|PMID:9950376 12302716 GAA alpha glucosidase gene DOID:2843 long QT syndrome ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 12302716 GAA alpha glucosidase gene DOID:423 myopathy ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:11071489|PMID:14695532|PMID:15986226|PMID:16433701|PMID:16531044|PMID:16702877|PMID:16917947|PMID:17210890|PMID:17616415|PMID:17643989|PMID:17723315|PMID:17881425|PMID:18607768|PMID:19588081|PMID:20301438|PMID:20350966|PMID:20559845|PMID:21109266|PMID:21228398|PMID:21439876|PMID:21550241|PMID:21967859|PMID:22595200|PMID:22613277|PMID:22676651|PMID:22975760|PMID:23417379|PMID:24008051|PMID:24033266|PMID:24150945|PMID:24158270|PMID:24245577|PMID:24590251|PMID:24844452|PMID:2510307|PMID:25103075|PMID:25356970|PMID:25741868|PMID:25846667|PMID:26231297|PMID:26800218|PMID:27170567|PMID:27189384|PMID:27460347|PMID:27649523|PMID:27708273|PMID:28032299|PMID:28492532|PMID:28694071|PMID:28951071|PMID:29181627|PMID:29326002|PMID:30275481|PMID:30314719|PMID:30564623|PMID:30655185|PMID:30827497|PMID:31086307|PMID:31676142|PMID:31980526|PMID:32071926|PMID:32528171|PMID:32721234|PMID:32860008|PMID:34906502|PMID:7668832|PMID:7717400|PMID:7881425|PMID:8558570|PMID:8990003 12302716 GAA alpha glucosidase gene DOID:630 genetic disease ISO RGD:1353184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11071489|PMID:12213618|PMID:14695532|PMID:15986226|PMID:16433701|PMID:16531044|PMID:16702877|PMID:16917947|PMID:17210890|PMID:17616415|PMID:17643989|PMID:17723315|PMID:17881425|PMID:18425781|PMID:18607768|PMID:19588081|PMID:19862843|PMID:20301438|PMID:20350966|PMID:20559845|PMID:21109266|PMID:21228398|PMID:21439876|PMID:21484825|PMID:21550241|PMID:21967859|PMID:22252923|PMID:22595200|PMID:22613277|PMID:22676651|PMID:22975760|PMID:23417379|PMID:24008051|PMID:24033266|PMID:24150945|PMID:24158270|PMID:24245577|PMID:24590251|PMID:24844452|PMID:2510307|PMID:25103075|PMID:25356970|PMID:25741868|PMID:25846667|PMID:26231297|PMID:26800218|PMID:27170567|PMID:27189384|PMID:27460347|PMID:27649523|PMID:27708273|PMID:28032299|PMID:28196920|PMID:28492532|PMID:28694071|PMID:28951071|PMID:29181627|PMID:29326002|PMID:30275481|PMID:30314719|PMID:30564623|PMID:30655185|PMID:30827497|PMID:31086307|PMID:31676142|PMID:31980526|PMID:32071926|PMID:32528171|PMID:32721234|PMID:32860008|PMID:34906502|PMID:7668832|PMID:7717400|PMID:7881425|PMID:8558570|PMID:8990003 12302716 GAA alpha glucosidase gene DOID:9000184 Ventricular Fibrillation ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:25741868|PMID:28492532|PMID:29149851 12302716 GAA alpha glucosidase gene DOID:9001828 Cardiac Form of Generalized Glycogenosis ISO RGD:1353184 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa | ClinVar Annotator: match by term: GLYCOGENOSIS, GENERALIZED, CARDIAC FORM PMID:11071489|PMID:14643388|PMID:14695532|PMID:15986226|PMID:16433701|PMID:16531044|PMID:16702877|PMID:16838077|PMID:16917947|PMID:17210890|PMID:17616415|PMID:17643989|PMID:17723315|PMID:17881425|PMID:18414213|PMID:18425781|PMID:18458862|PMID:18607768|PMID:19588081|PMID:19862843|PMID:20080426|PMID:20301438|PMID:20350966|PMID:20559845|PMID:21109266|PMID:2111708|PMID:21228398|PMID:21439876|PMID:21471980|PMID:21550241|PMID:21967859|PMID:2203258|PMID:22194990|PMID:22252923|PMID:22595200|PMID:22613277|PMID:22644586|PMID:22676651|PMID:22975760|PMID:22980766|PMID:22990675|PMID:23000108|PMID:23417379|PMID:23668440|PMID:23757202|PMID:24008051|PMID:24008937|PMID:24033266|PMID:24150945|PMID:24158270|PMID:24245577|PMID:24269976|PMID:24444888|PMID:24590251|PMID:24844452|PMID:25052852|PMID:2510307|PMID:25103075|PMID:25213570|PMID:25356970|PMID:25466677|PMID:25526786|PMID:25681614|PMID:25741868|PMID:25846667|PMID:25998610|PMID:26231297|PMID:26467025|PMID:26800218|PMID:26946079|PMID:27170567|PMID:27183828|PMID:27189384|PMID:27363342|PMID:27460347|PMID:27649523|PMID:27708273|PMID:28032299|PMID:28492532|PMID:28624228|PMID:28694071|PMID:28951071|PMID:29124014|PMID:29181627|PMID:29326002|PMID:30275481|PMID:30314719|PMID:30564623|PMID:30655185|PMID:30827497|PMID:31076647|PMID:31086307|PMID:31676142|PMID:31980526|PMID:32071926|PMID:32528171|PMID:32721234|PMID:32860008|PMID:33073003|PMID:33073007|PMID:33202836|PMID:33741225|PMID:34906502|PMID:36310651|PMID:7668832|PMID:7717400|PMID:7881425|PMID:8401535|PMID:8558570|PMID:8912788|PMID:8990003|PMID:9425285|PMID:9521422 12302716 GAA alpha glucosidase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1353184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11328962 12302716 GAA alpha glucosidase gene DOID:9006475 Glycoprotein Storage Disease ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycoprotein storage disease PMID:19588081|PMID:22644586|PMID:24444888|PMID:25526786|PMID:25741868|PMID:28492532|PMID:30155607|PMID:30564623 12302716 GAA alpha glucosidase gene DOID:9007039 Ventricular Dysfunction ISO RGD:1353184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11328962 12302716 GAA alpha glucosidase gene DOID:9007811 Familial Cirrhosis with Deposition of Abnormal Glycogen ISO RGD:1353184 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cirrhosis, familial, with deposition of abnormal glycogen PMID:11071489|PMID:14695532|PMID:15986226|PMID:16433701|PMID:16531044|PMID:16702877|PMID:16917947|PMID:17210890|PMID:17616415|PMID:17643989|PMID:17723315|PMID:17881425|PMID:18607768|PMID:19588081|PMID:20301438|PMID:20350966|PMID:20559845|PMID:21109266|PMID:21228398|PMID:21439876|PMID:21550241|PMID:21967859|PMID:22595200|PMID:22613277|PMID:22676651|PMID:22975760|PMID:23417379|PMID:24008051|PMID:24033266|PMID:24150945|PMID:24158270|PMID:24245577|PMID:24590251|PMID:24844452|PMID:2510307|PMID:25103075|PMID:25356970|PMID:25741868|PMID:25846667|PMID:26231297|PMID:26800218|PMID:27170567|PMID:27189384|PMID:27460347|PMID:27649523|PMID:27708273|PMID:28032299|PMID:28492532|PMID:28694071|PMID:28951071|PMID:29181627|PMID:29326002|PMID:30275481|PMID:30314719|PMID:30564623|PMID:30655185|PMID:30827497|PMID:31086307|PMID:31676142|PMID:31980526|PMID:32071926|PMID:32528171|PMID:32721234|PMID:32860008|PMID:34906502|PMID:7668832|PMID:7717400|PMID:7881425|PMID:8558570|PMID:8990003 12302716 GAA alpha glucosidase gene DOID:9212 pityriasis rubra pilaris ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 12302716 GAA alpha glucosidase gene DOID:9562 primary ciliary dyskinesia ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18414213|PMID:23757202|PMID:24033266|PMID:25741868|PMID:28492532 12302716 GAA alpha glucosidase gene DOID:9884 muscular dystrophy ISO RGD:1353184 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Muscular dystrophy 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0050451 Brugada syndrome ISO RGD:1353354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:25741868|PMID:27871843|PMID:28492532 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0050650 familial atrial fibrillation ISO RGD:1353354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation PMID:17470695|PMID:17576681|PMID:19716085|PMID:19841300|PMID:21185501|PMID:22199116|PMID:22378279|PMID:22581653|PMID:22949429|PMID:23571586|PMID:24033266|PMID:24190995|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25854863|PMID:25985138|PMID:26159999|PMID:26318259|PMID:28492532|PMID:28988457|PMID:29197658|PMID:30615648|PMID:31696929|PMID:31737537|PMID:34398675|PMID:9536098 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0050700 cardiomyopathy ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:14661677|PMID:14678125|PMID:16556865|PMID:17161064|PMID:17210839|PMID:17470695|PMID:19841300|PMID:19862833|PMID:21185501|PMID:22581653|PMID:22677073|PMID:22949429|PMID:23571586|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:28492532 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0050793 short QT syndrome ISO RGD:1353354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short QT syndrome PMID:11278406|PMID:15051636|PMID:15159330|PMID:17470695|PMID:17576681|PMID:19716085|PMID:19841300|PMID:20436212|PMID:21185501|PMID:22199116|PMID:22378279|PMID:22581653|PMID:22949429|PMID:23571586|PMID:24033266|PMID:24190995|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25854863|PMID:25985138|PMID:26159999|PMID:26318259|PMID:28492532|PMID:28988457|PMID:29197658|PMID:30615648|PMID:31696929|PMID:31737537|PMID:34398675|PMID:9536098 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0060224 atrial fibrillation ISO RGD:1353354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:12522251|PMID:15368194|PMID:16109388|PMID:17467630|PMID:17997361|PMID:17999538|PMID:18599533|PMID:19632626|PMID:20421371|PMID:21224508|PMID:22250012|PMID:22508963|PMID:22581653|PMID:23375927|PMID:24006450|PMID:24818999|PMID:25444851|PMID:25974115|PMID:28383569|PMID:28492532 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0070297 primary microcephaly ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:15781747|PMID:15840476|PMID:19716085|PMID:19841300|PMID:22581653|PMID:22949429|PMID:23392653|PMID:23631430|PMID:24033266|PMID:24947509|PMID:25741868|PMID:25854863|PMID:26546361|PMID:26669661|PMID:27831900|PMID:28492532|PMID:30755392|PMID:31447099 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0080600 COVID-19 ISO RGD:1353354 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1353354 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:1353354 D RGD:7240710 20230517 OMIM 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Long QT syndrome 1, recessive | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10024302|PMID:10086971|PMID:10090529|PMID:10090886|PMID:10220144|PMID:10220146|PMID:10367071|PMID:10376919|PMID:10409658|PMID:10477533|PMID:10482963|PMID:10483966|PMID:10508236|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10868744|PMID:10874277|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11278406|PMID:11351021|PMID:11410559|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11684219|PMID:11761407|PMID:11799244|PMID:11997281|PMID:12037327|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12205790|PMID:12388934|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12710526|PMID:12736279|PMID:12820704|PMID:12877697|PMID:1346223|PMID:14510661|PMID:14531214|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14756674|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15528464|PMID:15547041|PMID:15635208|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16039274|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16246960|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16623272|PMID:16627448|PMID:16818214|PMID:16831322|PMID:16922724|PMID:16931984|PMID:16937190|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17053194|PMID:17088455|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17224687|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17482572|PMID:17576681|PMID:17597962|PMID:17698596|PMID:17905336|PMID:17984373|PMID:17999538|PMID:18004376|PMID:18079560|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18308161|PMID:18400097|PMID:18426444|PMID:18452873|PMID:18464931|PMID:18580685|PMID:18596570|PMID:18611041|PMID:18713323|PMID:18752142|PMID:18774102|PMID:19008479|PMID:19114714|PMID:19124472|PMID:19160088|PMID:19261104|PMID:19322600|PMID:19348785|PMID:19490272|PMID:19540844|PMID:19549851|PMID:19590188|PMID:19632626|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:19959132|PMID:20031635|PMID:20044973|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20196769|PMID:20226272|PMID:20348026|PMID:20368164|PMID:20403459|PMID:20421371|PMID:20479111|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20662986|PMID:20833965|PMID:20850564|PMID:20851114|PMID:20960614|PMID:20981092|PMID:21059661|PMID:21063070|PMID:21070882|PMID:21118729|PMID:21129503|PMID:21131640|PMID:21185501|PMID:21215473|PMID:21241800|PMID:21241880|PMID:21350584|PMID:21451124|PMID:21482651|PMID:21499742|PMID:21511995|PMID:21576493|PMID:21635612|PMID:21778721|PMID:21779290|PMID:21810471|PMID:21854832|PMID:21895724|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22373669|PMID:22378279|PMID:22429796|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22613981|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23000022|PMID:23075154|PMID:23092362|PMID:23098067|PMID:23123674|PMID:23124029|PMID:23130128|PMID:23139254|PMID:23153844|PMID:23158531|PMID:23174487|PMID:23193492|PMID:23251633|PMID:23271449|PMID:23291057|PMID:23304551|PMID:23324056|PMID:23350853|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23788249|PMID:23844633|PMID:23851063|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23935525|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24080067|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24217263|PMID:24218437|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24373870|PMID:24388587|PMID:24552659|PMID:24606995|PMID:24631775 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Long QT syndrome 1, recessive | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:24665220|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24689698|PMID:24705789|PMID:24713462|PMID:24721657|PMID:24762593|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25028166|PMID:25037568|PMID:25087618|PMID:25119684|PMID:25139741|PMID:25187895|PMID:25192979|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25444851|PMID:25453094|PMID:25467552|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25634836|PMID:25637381|PMID:25645639|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25804018|PMID:25825456|PMID:25845942|PMID:25854863|PMID:25916402|PMID:25929701|PMID:25935074|PMID:25956966|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26063740|PMID:26066609|PMID:26077850|PMID:26118460|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26228265|PMID:26318259|PMID:26344792|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26813553|PMID:26937405|PMID:27000522|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27332903|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27479201|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27884173|PMID:27917693|PMID:27920829|PMID:27921062|PMID:28012188|PMID:28212739|PMID:28217227|PMID:28249770|PMID:28264985|PMID:28302345|PMID:28341588|PMID:28360401|PMID:28438721|PMID:28449774|PMID:28491751|PMID:28491806|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28566242|PMID:28575668|PMID:28588847|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28739325|PMID:28749187|PMID:28749435|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29167462|PMID:29194874|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29255176|PMID:29372044|PMID:29379719|PMID:29401425|PMID:29439887|PMID:29447731|PMID:29449639|PMID:29451064|PMID:29497013|PMID:29532034|PMID:29544605|PMID:29598884|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29790872|PMID:29857160|PMID:29876285|PMID:29922582|PMID:29925740|PMID:29952348|PMID:30008122|PMID:30079003|PMID:30122538|PMID:30291343|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30530868|PMID:30571187|PMID:30591322|PMID:30609406|PMID:30615648|PMID:30755392|PMID:30847666|PMID:30935642|PMID:30974404|PMID:31009818|PMID:31019283|PMID:31043699|PMID:31226583|PMID:31315195|PMID:31395126|PMID:31424047|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31729605|PMID:31737537|PMID:31883792|PMID:31899541|PMID:31980526|PMID:31994352|PMID:32009526|PMID:32048431|PMID:32168391|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32470535|PMID:32508908|PMID:32686758|PMID:32695137|PMID:32797034|PMID:32893267|PMID:32936022|PMID:33087929|PMID:33181513|PMID:33256261|PMID:33484326|PMID:33498651|PMID:33600800|PMID:33664273|PMID:33693037|PMID:33777698|PMID:33876311|PMID:34135346|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34505893|PMID:34691145|PMID:34697415|PMID:34884666|PMID:35442947|PMID:35535697|PMID:36102233|PMID:36197721|PMID:8487283|PMID:8528244|PMID:8818942|PMID:8872472|PMID:9020846|PMID:9024139|PMID:9302275|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9570196|PMID:9641694|PMID:9654228|PMID:9693036|PMID:9702906|PMID:9781056|PMID:9799083|PMID:9927399 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0110645 long QT syndrome 2 ISO RGD:1353354 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:10477533|PMID:10973849|PMID:17576681|PMID:19716085|PMID:21810471|PMID:22629021|PMID:25741868|PMID:27485560|PMID:28492532|PMID:29255176|PMID:29857160|PMID:31589614|PMID:31737537|PMID:9536098|PMID:9570196|PMID:9654228 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0111449 progressive myoclonus epilepsy 6 ISO RGD:1353354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 PMID:25326637|PMID:25741868|PMID:28492532 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:10763 hypertension ISO RGD:621503 D RGD:9068941 20200609 RGD DNA:deletion:exon (rat) PMID:16368876|REF_RGD_ID:1581602 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:10907 microcephaly ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital microcephaly PMID:15781747|PMID:15840476|PMID:19716085|PMID:19841300|PMID:22581653|PMID:22949429|PMID:23392653|PMID:23631430|PMID:24033266|PMID:24947509|PMID:25741868|PMID:25854863|PMID:26546361|PMID:26669661|PMID:27831900|PMID:28492532|PMID:30755392|PMID:31447099 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1353354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19716085|PMID:22581653|PMID:23396983|PMID:24033266|PMID:24055113|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26332594|PMID:28492532|PMID:28794082|PMID:29197658|PMID:30571187 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:14323 Marfan syndrome ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:21459285|PMID:22581653|PMID:25741868 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2842 Jervell-Lange Nielsen syndrome ISO RGD:1353354 D RGD:7240710 20230517 OMIM 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2842 Jervell-Lange Nielsen syndrome ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome | ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 | ClinVar Annotator: match by term: Jervell-Lange Nielsen syndrome | ClinVar Annotator: match by term: Surdo-cardiac syndrome PMID:10024302|PMID:10077519|PMID:10090886|PMID:10367071|PMID:10409658|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11761407|PMID:11799244|PMID:11997281|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12402336|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12736279|PMID:12877697|PMID:1346223|PMID:14510661|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15500450|PMID:15528464|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16039274|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16818214|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18004376|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18426444|PMID:18452873|PMID:18611041|PMID:18752142|PMID:19124472|PMID:19160088|PMID:19490272|PMID:19590188|PMID:19632626|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:19959132|PMID:20044973|PMID:20167303|PMID:20226272|PMID:20348026|PMID:20421371|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20662986|PMID:20850564|PMID:20851114|PMID:21063070|PMID:21118729|PMID:21131640|PMID:21185501|PMID:21215473|PMID:21350584|PMID:21380488|PMID:21451124|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23098067|PMID:23123674|PMID:23124029|PMID:23130128|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23350853|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23788249|PMID:23851063|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23935525|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24217263|PMID:24218437|PMID:24223155|PMID:24284363|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24689698|PMID:24762593|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25119684|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25351510|PMID:25453094|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25804018|PMID:25854863|PMID:25916402|PMID:25929701|PMID:25956966|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26228265|PMID:26318259|PMID:26344792|PMID:26385840|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26704558|PMID:26743238|PMID:26937405|PMID:27000522|PMID:27041096|PMID:27041150|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27816319|PMID:27831900|PMID:27884173|PMID:27920829|PMID:28212739|PMID:28302345|PMID:28360401|PMID:28438721|PMID:28449774|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28588847|PMID:28595573|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28944242|PMID:28988457|PMID:29037160|PMID:29097701|PMID:29197658|PMID:29247119|PMID:29372044|PMID:29379719|PMID:29449639|PMID:29532034|PMID:29544605 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2842 Jervell-Lange Nielsen syndrome ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome | ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 | ClinVar Annotator: match by term: Jervell-Lange Nielsen syndrome | ClinVar Annotator: match by term: Surdo-cardiac syndrome PMID:29598884|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29876285|PMID:29922582|PMID:30122538|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30530868|PMID:30571187|PMID:30591322|PMID:30615648|PMID:30755392|PMID:30847666|PMID:30935642|PMID:30974404|PMID:31043699|PMID:31226583|PMID:31427586|PMID:31447099|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31737537|PMID:31994352|PMID:32048431|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32686758|PMID:32695137|PMID:32936022|PMID:33087929|PMID:33181513|PMID:33600800|PMID:33664273|PMID:33693037|PMID:33777698|PMID:34135346|PMID:34333030|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34505893|PMID:34697415|PMID:35442947|PMID:8487283|PMID:9020846|PMID:9024139|PMID:9164812|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9641694|PMID:9781056|PMID:9799083|PMID:9927399 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:10024302|PMID:10077519|PMID:10086971|PMID:10090529|PMID:10090886|PMID:10220144|PMID:10220146|PMID:10367071|PMID:10376919|PMID:10409658|PMID:10477533|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10868744|PMID:10874277|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11278406|PMID:11351021|PMID:11410559|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11684219|PMID:11761407|PMID:11799244|PMID:11802537|PMID:11997281|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12205790|PMID:12388934|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12710526|PMID:12736279|PMID:12808265|PMID:12820704|PMID:12877697|PMID:14510661|PMID:14527360|PMID:14531214|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14756674|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15159330|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15511625|PMID:15528464|PMID:15547041|PMID:15649981|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15924777|PMID:15935335|PMID:16012827|PMID:16038262|PMID:16109388|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16244680|PMID:16246960|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16627448|PMID:16818214|PMID:16831322|PMID:16922724|PMID:16931984|PMID:16937190|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17053194|PMID:17088455|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17438609|PMID:17467628|PMID:17470695|PMID:17482572|PMID:17576681|PMID:17597962|PMID:17704175|PMID:17905336|PMID:17932138|PMID:17984373|PMID:17999538|PMID:18004376|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18308161|PMID:18400097|PMID:18426444|PMID:18452873|PMID:18464931|PMID:18580685|PMID:18599533|PMID:18611041|PMID:18713323|PMID:18752142|PMID:18774102|PMID:18808722|PMID:19027783|PMID:19041715|PMID:19114714|PMID:19160088|PMID:19165230|PMID:19167356|PMID:19184172|PMID:19198868|PMID:19261104|PMID:19348785|PMID:19490272|PMID:19540844|PMID:19590188|PMID:19632626|PMID:19646991|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19913547|PMID:19934648|PMID:19959132|PMID:20031635|PMID:20044973|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20196769|PMID:20226272|PMID:20348026|PMID:20368164|PMID:20421371|PMID:20436212|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20662986|PMID:20833965|PMID:20850564|PMID:20851114|PMID:20920651|PMID:20960614|PMID:20975234|PMID:20981092|PMID:20981542|PMID:21059661|PMID:21063070|PMID:21118729|PMID:21129503|PMID:21131640|PMID:21152909|PMID:21164565|PMID:21185501|PMID:21215473|PMID:21241800|PMID:21241880|PMID:21350584|PMID:21380488|PMID:21451124|PMID:21459285|PMID:21482651|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21810471|PMID:21854832|PMID:21895724|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22250012|PMID:22293141|PMID:22309168|PMID:22373669|PMID:22378279|PMID:22382802|PMID:22429796|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22613981|PMID:22629021|PMID:22677073|PMID:22708720|PMID:22727609|PMID:22739119|PMID:22771213|PMID:22818067|PMID:22882672|PMID:22885918|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23000022|PMID:23075154|PMID:23092362|PMID:23098067|PMID:23123674|PMID:23124029|PMID:2313012|PMID:23130128|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23271449|PMID:23304551|PMID:23350853|PMID:23375927|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23728945|PMID:23788249|PMID:23844633|PMID:23851063|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23935525 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:23995044|PMID:24006450|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24070608|PMID:24096004|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24217263|PMID:24218437|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24314077|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24596401|PMID:24606995|PMID:24631775|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24687331|PMID:24689698|PMID:24705789|PMID:24721657|PMID:24762593|PMID:24818999|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25028166|PMID:25037568|PMID:25087618|PMID:25119684|PMID:25139741|PMID:25163546|PMID:25187895|PMID:25192979|PMID:25236808|PMID:25294783|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25444851|PMID:25447171|PMID:25453094|PMID:25494010|PMID:25525159|PMID:25559286|PMID:25564553|PMID:25608792|PMID:25616976|PMID:25634836|PMID:25637381|PMID:25639344|PMID:25640679|PMID:25645639|PMID:25649125|PMID:25650408|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25804018|PMID:25825456|PMID:25845942|PMID:25854863|PMID:25889101|PMID:25916402|PMID:25929701|PMID:25935074|PMID:25974115|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26063740|PMID:26077850|PMID:26118460|PMID:26118593|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26344792|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26467025|PMID:26496715|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26734131|PMID:26743238|PMID:26745405|PMID:26813553|PMID:26937405|PMID:27000522|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27311732|PMID:27332903|PMID:27451284|PMID:27470144|PMID:27479201|PMID:27485560|PMID:27650965|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:27921062|PMID:28012188|PMID:28096388|PMID:28166811|PMID:28212739|PMID:28249770|PMID:28264985|PMID:28302345|PMID:28360401|PMID:28364778|PMID:28438721|PMID:28449774|PMID:28479515|PMID:28491751|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28588847|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28739325|PMID:28749187|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29167462|PMID:29194874|PMID:29197658|PMID:29247119|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29439887|PMID:29451064|PMID:29497013|PMID:29532034|PMID:29544605|PMID:29582136|PMID:29598884|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29672598|PMID:29677589|PMID:29740400|PMID:29790872|PMID:29851656|PMID:29857160|PMID:29876285|PMID:29922582|PMID:29952348|PMID:30079003|PMID:30122538|PMID:30244407|PMID:30302399|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30571187|PMID:30591322|PMID:30615648|PMID:30758498|PMID:30847666|PMID:30935642|PMID:30967788|PMID:30974404|PMID:31009818|PMID:31019283|PMID:31043699|PMID:31226583|PMID:31337358|PMID:31447099|PMID:31565860|PMID:31589614|PMID:31696929|PMID:31737537|PMID:31899541|PMID:31980526|PMID:31994352|PMID:32004091|PMID:32009526|PMID:32048431|PMID:32096762|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32686758|PMID:32917565|PMID:32936022|PMID:33087929|PMID:34135346|PMID:34333030|PMID:34398675|PMID:8487283|PMID:8528244|PMID:8818942|PMID:8872472|PMID:9024139|PMID:9164812|PMID:9272155|PMID:9302275|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9570196|PMID:9600240|PMID:9641694|PMID:9654228|PMID:9693036|PMID:9702906|PMID:9781056|PMID:9799083|PMID:9927399 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:10024302|PMID:10077519|PMID:10086971|PMID:10090529|PMID:10090886|PMID:10220144|PMID:10220146|PMID:10367071|PMID:10376919|PMID:10409658|PMID:10477533|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10868744|PMID:10874277|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11278406|PMID:11351021|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11684219|PMID:11761407|PMID:11799244|PMID:11802537|PMID:11997281|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12205790|PMID:12388934|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12710526|PMID:12736279|PMID:12808265|PMID:12820704|PMID:12877697|PMID:14510661|PMID:14527360|PMID:14531214|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14756674|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15511625|PMID:15528464|PMID:15547041|PMID:15649981|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15924777|PMID:15935335|PMID:16012827|PMID:16038262|PMID:16109388|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16244680|PMID:16246960|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16534005|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16627448|PMID:16818214|PMID:16831322|PMID:16922724|PMID:16937190|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17053194|PMID:17088455|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17438609|PMID:17467628|PMID:17470695|PMID:17482572|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17984373|PMID:17999538|PMID:18004376|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18308161|PMID:18400097|PMID:18426444|PMID:18452873|PMID:18464931|PMID:18580685|PMID:18599533|PMID:18611041|PMID:18713323|PMID:18752142|PMID:18774102|PMID:18808722|PMID:19027783|PMID:19041715|PMID:19114714|PMID:19160088|PMID:19165230|PMID:19167356|PMID:19184172|PMID:19198868|PMID:19261104|PMID:19348785|PMID:19490272|PMID:19540844|PMID:19590188|PMID:19632626|PMID:19646991|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19913547|PMID:19934648|PMID:19959132|PMID:20031635|PMID:20044973|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20196769|PMID:20226272|PMID:20348026|PMID:20368164|PMID:20421371|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20662986|PMID:20833965|PMID:20850564|PMID:20851114|PMID:20960614|PMID:20975234|PMID:20981092|PMID:21059661|PMID:21063070|PMID:21118729|PMID:21129503|PMID:21131640|PMID:21164565|PMID:21185501|PMID:21215473|PMID:21241800|PMID:21241880|PMID:21350584|PMID:21380488|PMID:21451124|PMID:21459285|PMID:21482651|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21810471|PMID:21854832|PMID:21895724|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22250012|PMID:22293141|PMID:22309168|PMID:22373669|PMID:22378279|PMID:22382802|PMID:22429796|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22613981|PMID:22629021|PMID:22677073|PMID:22708720|PMID:22727609|PMID:22739119|PMID:22771213|PMID:22818067|PMID:22882672|PMID:22885918|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23000022|PMID:23075154|PMID:23092362|PMID:23098067|PMID:23123674|PMID:23124029|PMID:2313012|PMID:23130128|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23271449|PMID:23304551|PMID:23350853|PMID:23375927|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23844633|PMID:23851063|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23935525|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24070608|PMID:24096004|PMID:24144883|PMID:24184248|PMID:24190995 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:24217263|PMID:24218437|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24314077|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24687331|PMID:24689698|PMID:24705789|PMID:24721657|PMID:24762593|PMID:24818999|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25028166|PMID:25037568|PMID:25087618|PMID:25119684|PMID:25163546|PMID:25187895|PMID:25192979|PMID:25236808|PMID:25294783|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25444851|PMID:25447171|PMID:25453094|PMID:25525159|PMID:25559286|PMID:25564553|PMID:25608792|PMID:25616976|PMID:25634836|PMID:25637381|PMID:25639344|PMID:25640679|PMID:25645639|PMID:25649125|PMID:25650408|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25804018|PMID:25825456|PMID:25845942|PMID:25854863|PMID:25889101|PMID:25916402|PMID:25929701|PMID:25935074|PMID:25974115|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26066609|PMID:26077850|PMID:26118460|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26344792|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26467025|PMID:26496715|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26745405|PMID:26813553|PMID:26937405|PMID:27000522|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27311732|PMID:27332903|PMID:27451284|PMID:27470144|PMID:27479201|PMID:27485560|PMID:27650965|PMID:27761162|PMID:27807201|PMID:27810088|PMID:27816319|PMID:27831900|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:27921062|PMID:28012188|PMID:28166811|PMID:28249770|PMID:28264985|PMID:28302345|PMID:28360401|PMID:28364778|PMID:28383569|PMID:28438721|PMID:28449774|PMID:28479515|PMID:28491751|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28588847|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28739325|PMID:28749187|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29167462|PMID:29194874|PMID:29197658|PMID:29247119|PMID:29255176|PMID:29372044|PMID:29379719|PMID:29439887|PMID:29451064|PMID:29497013|PMID:29532034|PMID:29544605|PMID:29598884|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29790872|PMID:29851656|PMID:29857160|PMID:29876285|PMID:29922582|PMID:29952348|PMID:30122538|PMID:30244407|PMID:30302399|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30530868|PMID:30571187|PMID:30591322|PMID:30615648|PMID:30758498|PMID:30847666|PMID:30935642|PMID:30974404|PMID:31009818|PMID:31019283|PMID:31043699|PMID:31226583|PMID:31337358|PMID:31447099|PMID:31565860|PMID:31589614|PMID:31696929|PMID:31737537|PMID:31899541|PMID:31980526|PMID:31994352|PMID:32004091|PMID:32009526|PMID:32048431|PMID:32096762|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32421437|PMID:32686758|PMID:32917565|PMID:32936022|PMID:33087929|PMID:34135346|PMID:34333030|PMID:34398675|PMID:35535697|PMID:8487283|PMID:8528244|PMID:8818942|PMID:8872472|PMID:9024139|PMID:9164812|PMID:9272155|PMID:9302275|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9570196|PMID:9600240|PMID:9641694|PMID:9654228|PMID:9693036|PMID:9702906|PMID:9781056|PMID:9799083|PMID:9927399 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:10024302|PMID:10077519|PMID:10086971|PMID:10090529|PMID:10090886|PMID:10220144|PMID:10220146|PMID:10367071|PMID:10376919|PMID:10409658|PMID:10477533|PMID:10482963|PMID:10483966|PMID:10508236|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10868744|PMID:10874277|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11278406|PMID:11351021|PMID:11410559|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11684219|PMID:11761407|PMID:11799244|PMID:11802537|PMID:11997281|PMID:12037327|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12205790|PMID:12388934|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12710526|PMID:12736279|PMID:12808265|PMID:12820704|PMID:12877697|PMID:1346223|PMID:14510661|PMID:14527360|PMID:14531214|PMID:14576198|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14756674|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15159330|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15511625|PMID:15528464|PMID:15547041|PMID:15635208|PMID:15649981|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15924777|PMID:15935335|PMID:16012827|PMID:16038262|PMID:16039274|PMID:16109388|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16244680|PMID:16246960|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16534005|PMID:16542208|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16627448|PMID:16818214|PMID:16831322|PMID:16922724|PMID:16931984|PMID:16937190|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17053194|PMID:17088455|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17438609|PMID:17467628|PMID:17470695|PMID:17482572|PMID:17576681|PMID:17597962|PMID:17698596|PMID:17704175|PMID:17905336|PMID:17932138|PMID:17984373|PMID:17999538|PMID:18004376|PMID:18079560|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18308161|PMID:18398469|PMID:18400097|PMID:18426444|PMID:18452873|PMID:18464931|PMID:18580685|PMID:18599533|PMID:18611041|PMID:18713323|PMID:18752142|PMID:18774102|PMID:18808722|PMID:19008479|PMID:19027783|PMID:19041715|PMID:19114714|PMID:19124472|PMID:19160088|PMID:19165230|PMID:19167356|PMID:19184172|PMID:19198868|PMID:19261104|PMID:19322600|PMID:19348785|PMID:19490272|PMID:19540844|PMID:19549851|PMID:19590188|PMID:19632626|PMID:19646991|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19913547|PMID:19934648|PMID:19959132|PMID:19996378|PMID:20031635|PMID:20040519|PMID:20044973|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20196769|PMID:20226272|PMID:20348026|PMID:20368164|PMID:20403459|PMID:20421371|PMID:20436212|PMID:20479111|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20662986|PMID:20833965|PMID:20850564|PMID:20851114|PMID:20920651|PMID:20960614|PMID:20975234|PMID:20981092|PMID:20981542|PMID:21059661|PMID:21063070|PMID:21070882|PMID:21118729|PMID:21129503|PMID:21131640|PMID:21152909|PMID:21164565|PMID:21185501|PMID:21215473|PMID:21241800|PMID:21241880|PMID:21350584|PMID:21380488|PMID:21451124|PMID:21459285|PMID:21482651|PMID:21499742|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21810471|PMID:21854832|PMID:21895724|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22250012|PMID:22293141|PMID:22309168|PMID:22354620|PMID:22373669|PMID:22378279|PMID:22382802|PMID:22429796|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22613981|PMID:22629021|PMID:22677073|PMID:22708720|PMID:22727609|PMID:22739119|PMID:22771213|PMID:22818067|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22944906|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23000022|PMID:23075154|PMID:23092362|PMID:23098067|PMID:23123674|PMID:23124029 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:2313012|PMID:23130128|PMID:23139254|PMID:23153844|PMID:23158531|PMID:23174487|PMID:23193492|PMID:23251633|PMID:23271449|PMID:23291057|PMID:23304551|PMID:23324056|PMID:23350853|PMID:23375927|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23844633|PMID:23851063|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23935525|PMID:23989646|PMID:23995044|PMID:24006450|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24070608|PMID:24080067|PMID:24096004|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24217263|PMID:24218437|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24314077|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24373870|PMID:24388587|PMID:24440382|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24665220|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24687331|PMID:24689698|PMID:24705789|PMID:24713462|PMID:24721657|PMID:24762593|PMID:24818999|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25028166|PMID:25037568|PMID:25087618|PMID:25119684|PMID:25139741|PMID:25163546|PMID:25174857|PMID:25187895|PMID:25192979|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25444851|PMID:25447171|PMID:25453094|PMID:25467552|PMID:25525159|PMID:25559286|PMID:25564553|PMID:25608792|PMID:25616976|PMID:25634836|PMID:25637381|PMID:25639344|PMID:25640679|PMID:25645639|PMID:25649125|PMID:25650408|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25804018|PMID:25825456|PMID:25845942|PMID:25854863|PMID:25889101|PMID:25916402|PMID:25929701|PMID:25935074|PMID:25956966|PMID:25974115|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26063740|PMID:26066609|PMID:26077850|PMID:26118460|PMID:26118593|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26189708|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26338694|PMID:26344792|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26496715|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26688388|PMID:26704558|PMID:26715165|PMID:26734131|PMID:26743238|PMID:26745405|PMID:26813553|PMID:26937405|PMID:27000522|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27332903|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27479201|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27761162|PMID:27807201|PMID:27810088|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:27921062|PMID:28012188|PMID:28096388|PMID:28166811|PMID:28212739|PMID:28217227|PMID:28249770|PMID:28264985|PMID:28302345|PMID:28341588|PMID:28360401|PMID:28364778|PMID:28383569|PMID:28438721|PMID:28449774|PMID:28479515|PMID:28491751|PMID:28491806|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28575668|PMID:28588847|PMID:28595573|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28739325|PMID:28749187|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29167462|PMID:29194874|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29255176|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29401425|PMID:29420653|PMID:29439887|PMID:29447731|PMID:29449639|PMID:29451064|PMID:29497013|PMID:29532034|PMID:29544605|PMID:29582136|PMID:29598884|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29790872|PMID:29851656|PMID:29857160|PMID:29876285|PMID:29922582|PMID:29925740|PMID:29952348|PMID:30008122|PMID:30079003|PMID:30122538|PMID:30170673|PMID:30244407|PMID:30302399|PMID:30311386|PMID:30327538|PMID:30369311|PMID:30406014|PMID:30530868|PMID:30571187|PMID:30591322|PMID:30609406|PMID:30615648|PMID:30758498|PMID:30847666|PMID:30935642|PMID:30967788|PMID:30974404|PMID:31009818|PMID:31019283|PMID:31043699|PMID:31078652|PMID:31226583|PMID:31315195|PMID:31337358|PMID:31395126|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31535183|PMID:31565860|PMID:31589614 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:31638414|PMID:31696929|PMID:31729605|PMID:31737537|PMID:31883792|PMID:31899541|PMID:31980526|PMID:31994352|PMID:32004091|PMID:32009526|PMID:32048431|PMID:32096762|PMID:32168391|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32421437|PMID:32508908|PMID:32600061|PMID:32686758|PMID:32695137|PMID:32797034|PMID:32893267|PMID:32917565|PMID:32936022|PMID:33087929|PMID:33095155|PMID:33141630|PMID:33181513|PMID:33256261|PMID:33309763|PMID:33498651|PMID:33574382|PMID:33600800|PMID:33693037|PMID:33777698|PMID:33876311|PMID:34135346|PMID:34319147|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34505893|PMID:34697415|PMID:34884666|PMID:34930020|PMID:35535697|PMID:36197721|PMID:8487283|PMID:8528244|PMID:8818942|PMID:8872472|PMID:9020846|PMID:9024139|PMID:9164812|PMID:9272155|PMID:9302275|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9570196|PMID:9600240|PMID:9641694|PMID:9654228|PMID:9693036|PMID:9702906|PMID:9781056|PMID:9799083|PMID:9927399 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:10024302|PMID:10077519|PMID:10086971|PMID:10090529|PMID:10090886|PMID:10220144|PMID:10220146|PMID:10367071|PMID:10376919|PMID:10409658|PMID:10477533|PMID:10482963|PMID:10483966|PMID:10508236|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10868744|PMID:10874277|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11278406|PMID:11351021|PMID:11410559|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11684219|PMID:11761407|PMID:11799244|PMID:11802537|PMID:11997281|PMID:12037327|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12205790|PMID:12388934|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12710526|PMID:12736279|PMID:12808265|PMID:12820704|PMID:12877697|PMID:1346223|PMID:14510661|PMID:14527360|PMID:14531214|PMID:14576198|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14756674|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15159330|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15511625|PMID:15528464|PMID:15547041|PMID:15635208|PMID:15649981|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15924777|PMID:15935335|PMID:16012827|PMID:16038262|PMID:16039274|PMID:16109388|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16244680|PMID:16246960|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16534005|PMID:16542208|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16627448|PMID:16818214|PMID:16831322|PMID:16922724|PMID:16931984|PMID:16937190|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17053194|PMID:17088455|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17438609|PMID:17467628|PMID:17470695|PMID:17482572|PMID:17576681|PMID:17597962|PMID:17698596|PMID:17704175|PMID:17905336|PMID:17932138|PMID:17984373|PMID:17999538|PMID:18004376|PMID:18079560|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18308161|PMID:18398469|PMID:18400097|PMID:18426444|PMID:18452873|PMID:18464931|PMID:18580685|PMID:18599533|PMID:18611041|PMID:18713323|PMID:18752142|PMID:18774102|PMID:18808722|PMID:19008479|PMID:19027783|PMID:19041715|PMID:19114714|PMID:19124472|PMID:19160088|PMID:19165230|PMID:19167356|PMID:19184172|PMID:19198868|PMID:19261104|PMID:19322600|PMID:19348785|PMID:19490272|PMID:19540844|PMID:19549851|PMID:19590188|PMID:19632626|PMID:19646991|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19913547|PMID:19934648|PMID:19959132|PMID:19996378|PMID:20031635|PMID:20040519|PMID:20044973|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20196769|PMID:20226272|PMID:20348026|PMID:20368164|PMID:20403459|PMID:20421371|PMID:20436212|PMID:20479111|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20662986|PMID:20833965|PMID:20850564|PMID:20851114|PMID:20920651|PMID:20960614|PMID:20975234|PMID:20981092|PMID:20981542|PMID:21059661|PMID:21063070|PMID:21070882|PMID:21118729|PMID:21129503|PMID:21131640|PMID:21152909|PMID:21164565|PMID:21185501|PMID:21215473|PMID:21241800|PMID:21241880|PMID:21350584|PMID:21380488|PMID:21451124|PMID:21459285|PMID:21482651|PMID:21499742|PMID:21511995|PMID:21576493|PMID:21635612|PMID:21778721|PMID:21779290|PMID:21810471|PMID:21854832|PMID:21895724|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22250012|PMID:22293141|PMID:22309168|PMID:22354620|PMID:22373669|PMID:22378279|PMID:22382802|PMID:22429796|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22613981|PMID:22629021|PMID:22677073|PMID:22708720|PMID:22727609|PMID:22739119|PMID:22771213|PMID:22818067|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22944906|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23000022|PMID:23075154|PMID:23092362|PMID:23098067|PMID:23123674 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:23124029|PMID:2313012|PMID:23130128|PMID:23139254|PMID:23153844|PMID:23158531|PMID:23174487|PMID:23193492|PMID:23251633|PMID:23271449|PMID:23291057|PMID:23304551|PMID:23324056|PMID:23350853|PMID:23375927|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23844633|PMID:23851063|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23935525|PMID:23989646|PMID:23995044|PMID:24006450|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24070608|PMID:24080067|PMID:24096004|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24217263|PMID:24218437|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24314077|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24373870|PMID:24388587|PMID:24440382|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24665220|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24687331|PMID:24689698|PMID:24705789|PMID:24713462|PMID:24721657|PMID:24762593|PMID:24818999|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25028166|PMID:25037568|PMID:25087618|PMID:25119684|PMID:25139741|PMID:25163546|PMID:25174857|PMID:25187895|PMID:25192979|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25444851|PMID:25447171|PMID:25453094|PMID:25467552|PMID:25525159|PMID:25559286|PMID:25564553|PMID:25608792|PMID:25616976|PMID:25634836|PMID:25637381|PMID:25639344|PMID:25640679|PMID:25645639|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25804018|PMID:25825456|PMID:25845942|PMID:25854863|PMID:25889101|PMID:25916402|PMID:25929701|PMID:25935074|PMID:25956966|PMID:25974115|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26063740|PMID:26066609|PMID:26077850|PMID:26118460|PMID:26118593|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26189708|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26338694|PMID:26344792|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26496715|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26688388|PMID:26704558|PMID:26715165|PMID:26734131|PMID:26743238|PMID:26745405|PMID:26813553|PMID:26937405|PMID:27000522|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27332903|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27479201|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27807201|PMID:27810088|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:27921062|PMID:28012188|PMID:28096388|PMID:28212739|PMID:28217227|PMID:28249770|PMID:28264985|PMID:28302345|PMID:28341588|PMID:28360401|PMID:28364778|PMID:28383569|PMID:28438721|PMID:28449774|PMID:28479515|PMID:28491751|PMID:28491806|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28566242|PMID:28575668|PMID:28588847|PMID:28595573|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28739325|PMID:28749187|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29167462|PMID:29194874|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29255176|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29401425|PMID:29420653|PMID:29439887|PMID:29447731|PMID:29449639|PMID:29451064|PMID:29497013|PMID:29532034|PMID:29544605|PMID:29582136|PMID:29598884|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29790872|PMID:29851656|PMID:29857160|PMID:29876285|PMID:29922582|PMID:29925740|PMID:29952348|PMID:30008122|PMID:30079003|PMID:30122538|PMID:30170673|PMID:30244407|PMID:30302399|PMID:30311386|PMID:30327538|PMID:30369311|PMID:30406014|PMID:30530868|PMID:30571187|PMID:30591322|PMID:30609406|PMID:30615648|PMID:30755392|PMID:30758498|PMID:30847666|PMID:30935642|PMID:30967788|PMID:30974404|PMID:31009818|PMID:31019283|PMID:31043699|PMID:31078652|PMID:31226583|PMID:31315195|PMID:31337358|PMID:31395126|PMID:31424047|PMID:31427586|PMID:31447099 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:31484877|PMID:31535183|PMID:31565860|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31729605|PMID:31737537|PMID:31883792|PMID:31899541|PMID:31980526|PMID:31994352|PMID:32004091|PMID:32009526|PMID:32048431|PMID:32096762|PMID:32168391|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32421437|PMID:32470535|PMID:32508908|PMID:32600061|PMID:32686758|PMID:32695137|PMID:32797034|PMID:32893267|PMID:32917565|PMID:32936022|PMID:33087929|PMID:33095155|PMID:33141630|PMID:33181513|PMID:33256261|PMID:33309763|PMID:33484326|PMID:33498651|PMID:33574382|PMID:33600800|PMID:33664273|PMID:33693037|PMID:33777698|PMID:33876311|PMID:34135346|PMID:34319147|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34505893|PMID:34691145|PMID:34697415|PMID:34884666|PMID:34930020|PMID:35442947|PMID:35535697|PMID:36102233|PMID:36197721|PMID:8487283|PMID:8528244|PMID:8818942|PMID:8872472|PMID:9020846|PMID:9024139|PMID:9164812|PMID:9272155|PMID:9302275|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9570196|PMID:9600240|PMID:9641694|PMID:9654228|PMID:9693036|PMID:9702906|PMID:9781056|PMID:9799083|PMID:9927399 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome severity ISO RGD:1353354 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:3' utr:rs2519184, rs8234, rs10798 (human) PMID:22199116|REF_RGD_ID:7247613 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:299 adenocarcinoma ISO RGD:1353354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23975432 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1353354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:12388934|PMID:15840476|PMID:17470695|PMID:19490272|PMID:19716085|PMID:19841300|PMID:21185501|PMID:22199116|PMID:22378279|PMID:22581653|PMID:22949429|PMID:23571586|PMID:23631430|PMID:24033266|PMID:24190995|PMID:25637381|PMID:25705178|PMID:25741868|PMID:25985138|PMID:26159999|PMID:27041096|PMID:28492532|PMID:28739325|PMID:28988457|PMID:29167462|PMID:29197658|PMID:30615648|PMID:31737537|PMID:32048431|PMID:32233023|PMID:34398675|PMID:9799083 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:4440 seminoma ISO RGD:1353354 D RGD:9068941 20200609 RGD PMID:15389592|REF_RGD_ID:1580497 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar Annotator: match by term: EMG Syndrome PMID:10704188|PMID:10973849|PMID:11530100|PMID:11997281|PMID:12566525|PMID:14510661|PMID:14678125|PMID:14760488|PMID:15051636|PMID:15840476|PMID:15935335|PMID:19716085|PMID:19841300|PMID:22378279|PMID:22581653|PMID:22629021|PMID:23174487|PMID:23392653|PMID:24033266|PMID:24055113|PMID:24190995|PMID:24357532|PMID:24606995|PMID:24912595|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25705178|PMID:25741868|PMID:25854863|PMID:26077850|PMID:26318259|PMID:26669661|PMID:27159321|PMID:27650965|PMID:27884173|PMID:28166811|PMID:28438721|PMID:28449774|PMID:28492532|PMID:28944242|PMID:29197658|PMID:31696929 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal dominant KCNQ1-related disease | ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar Annotator: match by term: EMG Syndrome PMID:10024302|PMID:10367071|PMID:10477533|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10807545|PMID:10973849|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11530100|PMID:11668638|PMID:11997281|PMID:12051962|PMID:12205113|PMID:12402336|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12702160|PMID:1346223|PMID:14510661|PMID:1467812|PMID:14678125|PMID:14760488|PMID:14998624|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15214551|PMID:15234419|PMID:15466642|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15935335|PMID:16199547|PMID:16414944|PMID:16556866|PMID:16818214|PMID:17329207|PMID:17329209|PMID:17470695|PMID:17576681|PMID:17905336|PMID:17999538|PMID:18004376|PMID:18174212|PMID:18426444|PMID:18452873|PMID:18752142|PMID:19124472|PMID:19590188|PMID:19716085|PMID:19808498|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19862833|PMID:19934648|PMID:20044973|PMID:20421371|PMID:20486126|PMID:20541041|PMID:20662986|PMID:20850564|PMID:20851114|PMID:21118729|PMID:21131640|PMID:21185501|PMID:21451124|PMID:21511995|PMID:21576493|PMID:21779290|PMID:21810471|PMID:21956039|PMID:22199116|PMID:22293141|PMID:22378279|PMID:22456477|PMID:22509038|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22885918|PMID:22927196|PMID:22949429|PMID:22956155|PMID:23098067|PMID:23123674|PMID:23124029|PMID:23130128|PMID:23174487|PMID:23251633|PMID:23350853|PMID:23392653|PMID:23396983|PMID:23631430|PMID:23788249|PMID:23851063|PMID:23861362|PMID:23890619|PMID:23995044|PMID:24033266|PMID:24055113|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24218437|PMID:24223155|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24681627|PMID:24861447|PMID:24912595|PMID:24947509|PMID:25037568|PMID:25119684|PMID:25294783|PMID:25344363|PMID:25351510|PMID:25453094|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25705178|PMID:25741868|PMID:25786344|PMID:25854863|PMID:25916402|PMID:25929701|PMID:26077850|PMID:26159999|PMID:26228265|PMID:26318259|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26546361|PMID:26669661|PMID:26743238|PMID:27000522|PMID:27041096|PMID:27041150|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27379800|PMID:27470144|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27816319|PMID:27831900|PMID:27884173|PMID:27920829|PMID:28438721|PMID:28449774|PMID:28492532|PMID:28518168|PMID:28588847|PMID:28606196|PMID:28704380|PMID:28944242|PMID:29037160|PMID:29197658|PMID:29247119|PMID:29255176|PMID:29449639|PMID:29532034|PMID:29544605|PMID:29598884|PMID:29677589|PMID:29740400|PMID:29857160|PMID:29876285|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30571187|PMID:30615648|PMID:30755392|PMID:30847666|PMID:30935642|PMID:30974404|PMID:31226583|PMID:31427586|PMID:31447099|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31737537|PMID:31994352|PMID:32048431|PMID:32383558|PMID:32686758|PMID:32695137|PMID:32936022|PMID:33087929|PMID:33181513|PMID:33600800|PMID:33777698|PMID:34135346|PMID:34333030|PMID:34428338|PMID:34505893|PMID:34697415|PMID:35442947|PMID:8487283|PMID:9312006|PMID:9323054|PMID:9386136|PMID:9536098|PMID:9570196|PMID:9654228|PMID:9927399 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:630 genetic disease ISO RGD:1353354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12702160|PMID:15840476|PMID:16414944|PMID:19862833|PMID:22581653|PMID:24033266|PMID:24388587|PMID:25441029|PMID:25741868|PMID:26669661|PMID:28364778|PMID:28492532|PMID:29097701|PMID:29197658|PMID:9323054 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:8488 polyhydramnios ISO RGD:1353354 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:15781747|PMID:15840476|PMID:19716085|PMID:19841300|PMID:22581653|PMID:22949429|PMID:23392653|PMID:23631430|PMID:24033266|PMID:24947509|PMID:25741868|PMID:25854863|PMID:26546361|PMID:26669661|PMID:27831900|PMID:28492532|PMID:30755392|PMID:31447099 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10024302|PMID:10090886|PMID:10376919|PMID:10409658|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11216980|PMID:11530100|PMID:11668638|PMID:11761407|PMID:11799244|PMID:11997281|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12690509|PMID:12702160|PMID:12736279|PMID:12877697|PMID:14510661|PMID:14531214|PMID:14661676|PMID:14661677|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15528464|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16922724|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18426444|PMID:18452873|PMID:18611041|PMID:18752142|PMID:19160088|PMID:19198868|PMID:19261104|PMID:19490272|PMID:19590188|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20226272|PMID:20368164|PMID:20421371|PMID:20486126|PMID:20659946|PMID:20660394|PMID:20851114|PMID:20981092|PMID:21063070|PMID:21131640|PMID:21152909|PMID:21185501|PMID:21215473|PMID:21350584|PMID:21451124|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22429796|PMID:22456477|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23075154|PMID:23098067|PMID:23130128|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24190995|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24596401|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24681627|PMID:24721657|PMID:24762593|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25163546|PMID:25187895|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25845942|PMID:25854863|PMID:25935074|PMID:25985138|PMID:26019114|PMID:26022593|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:27026747|PMID:27041150|PMID:27159321|PMID:27251404|PMID:27311732|PMID:27451284|PMID:27485560|PMID:27650965|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27884173|PMID:27917693|PMID:27920829|PMID:28166811|PMID:28438721|PMID:28449774|PMID:28491751|PMID:28492532|PMID:28532774|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29037160|PMID:29197658|PMID:29247119|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29532034|PMID:29544605|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29672598|PMID:29740400|PMID:29876285|PMID:29922582|PMID:29952348|PMID:30302399|PMID:30311386|PMID:30571187|PMID:30615648|PMID:30758498|PMID:30935642|PMID:31337358|PMID:31447099|PMID:31565860|PMID:31696929 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:31737537|PMID:31899541|PMID:31994352|PMID:32048431|PMID:32238909|PMID:32268277|PMID:32917565|PMID:34333030|PMID:8528244|PMID:9312006|PMID:9323054|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9641694|PMID:9693036|PMID:9799083|PMID:9927399 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:10024302|PMID:10090886|PMID:10376919|PMID:10409658|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11216980|PMID:11530100|PMID:11668638|PMID:11761407|PMID:11799244|PMID:11997281|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12690509|PMID:12702160|PMID:12736279|PMID:12877697|PMID:14510661|PMID:14531214|PMID:14661676|PMID:14661677|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15528464|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16039274|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16922724|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18426444|PMID:18452873|PMID:18611041|PMID:18752142|PMID:19124472|PMID:19160088|PMID:19198868|PMID:19261104|PMID:19348785|PMID:19490272|PMID:19590188|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20226272|PMID:20368164|PMID:20421371|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20851114|PMID:20981092|PMID:21063070|PMID:21131640|PMID:21152909|PMID:21185501|PMID:21215473|PMID:21350584|PMID:21451124|PMID:21482651|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22429796|PMID:22456477|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22944906|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23075154|PMID:23098067|PMID:23124029|PMID:23130128|PMID:23153844|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24190995|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24681627|PMID:24713462|PMID:24721657|PMID:24762593|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25163546|PMID:25187895|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25639344|PMID:25649125|PMID:25650408|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25845942|PMID:25854863|PMID:25935074|PMID:25985138|PMID:26019114|PMID:26022593|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26189708|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26338694|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:27026747|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27379800|PMID:27451284|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:28166811|PMID:28341588|PMID:28438721|PMID:28449774|PMID:28491751|PMID:28491806|PMID:28492532|PMID:28532774|PMID:28595573|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29037160|PMID:29197658 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:29241489|PMID:29247119|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29420653|PMID:29449639|PMID:29532034|PMID:29544605|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29740400|PMID:29876285|PMID:29922582|PMID:29952348|PMID:30008122|PMID:30302399|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30571187|PMID:30615648|PMID:30758498|PMID:30847666|PMID:30935642|PMID:31043699|PMID:31315195|PMID:31337358|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31565860|PMID:31589614|PMID:31696929|PMID:31737537|PMID:31899541|PMID:31994352|PMID:32048431|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32508908|PMID:32695137|PMID:32893267|PMID:32917565|PMID:33141630|PMID:33256261|PMID:33498651|PMID:33693037|PMID:33876311|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34930020|PMID:36197721|PMID:8528244|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9641694|PMID:9693036|PMID:9799083|PMID:9927399 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:10024302|PMID:10090886|PMID:10376919|PMID:10409658|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11216980|PMID:11530100|PMID:11668638|PMID:11761407|PMID:11799244|PMID:11997281|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12690509|PMID:12702160|PMID:12736279|PMID:12877697|PMID:14510661|PMID:14531214|PMID:14661676|PMID:14661677|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15528464|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16039274|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16922724|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18426444|PMID:18452873|PMID:18611041|PMID:18752142|PMID:19124472|PMID:19160088|PMID:19198868|PMID:19261104|PMID:19348785|PMID:19490272|PMID:19590188|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20226272|PMID:20368164|PMID:20421371|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20851114|PMID:20981092|PMID:21063070|PMID:21131640|PMID:21152909|PMID:21185501|PMID:21215473|PMID:21270786|PMID:21350584|PMID:21451124|PMID:21482651|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22429796|PMID:22456477|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22944906|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23075154|PMID:23098067|PMID:23124029|PMID:23130128|PMID:23153844|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24190995|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24681627|PMID:24713462|PMID:24721657|PMID:24762593|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25163546|PMID:25187895|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25639344|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25845942|PMID:25854863|PMID:25935074|PMID:25956966|PMID:25974703|PMID:25985138|PMID:26019114|PMID:26022593|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26189708|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26338694|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:27026747|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27379800|PMID:27451284|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:28212739|PMID:28341588|PMID:28438721|PMID:28449774|PMID:28491751|PMID:28491806|PMID:28492532|PMID:28532774|PMID:28595573|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28944242 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:28988457|PMID:29021305|PMID:29037160|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29420653|PMID:29449639|PMID:29532034|PMID:29544605|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29740400|PMID:29876285|PMID:29922582|PMID:29952348|PMID:30008122|PMID:30302399|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30571187|PMID:30615648|PMID:30758498|PMID:30847666|PMID:30935642|PMID:31043699|PMID:31315195|PMID:31337358|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31565860|PMID:31589614|PMID:31696929|PMID:31737537|PMID:31899541|PMID:31994352|PMID:32048431|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32508908|PMID:32695137|PMID:32893267|PMID:32917565|PMID:33141630|PMID:33256261|PMID:33498651|PMID:33693037|PMID:33876311|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34930020|PMID:36197721|PMID:8528244|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9641694|PMID:9693036|PMID:9799083|PMID:9927399 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10024302|PMID:10090886|PMID:10376919|PMID:10409658|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11216980|PMID:11530100|PMID:11668638|PMID:11761407|PMID:11799244|PMID:11997281|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12690509|PMID:12702160|PMID:12736279|PMID:12877697|PMID:14510661|PMID:14531214|PMID:14661676|PMID:14661677|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15528464|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16039274|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16922724|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18426444|PMID:18452873|PMID:18611041|PMID:18752142|PMID:19124472|PMID:19160088|PMID:19198868|PMID:19261104|PMID:19348785|PMID:19490272|PMID:19590188|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20226272|PMID:20368164|PMID:20421371|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20851114|PMID:20981092|PMID:21063070|PMID:21131640|PMID:21152909|PMID:21185501|PMID:21215473|PMID:21350584|PMID:21451124|PMID:21482651|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22429796|PMID:22456477|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22944906|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23075154|PMID:23098067|PMID:23124029|PMID:23130128|PMID:23153844|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24144883|PMID:24190995|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24681627|PMID:24713462|PMID:24721657|PMID:24762593|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25163546|PMID:25187895|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25639344|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25845942|PMID:25854863|PMID:25935074|PMID:25956966|PMID:25985138|PMID:26019114|PMID:26022593|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26189708|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26338694|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:27026747|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27379800|PMID:27451284|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:28212739|PMID:28341588|PMID:28438721|PMID:28449774|PMID:28491751|PMID:28491806|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28595573|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28749435|PMID:28794082|PMID:28798025 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29420653|PMID:29449639|PMID:29532034|PMID:29544605|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29740400|PMID:29876285|PMID:29922582|PMID:29952348|PMID:30008122|PMID:30302399|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30571187|PMID:30615648|PMID:30755392|PMID:30758498|PMID:30847666|PMID:30935642|PMID:31043699|PMID:31315195|PMID:31337358|PMID:31424047|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31565860|PMID:31589614|PMID:31696929|PMID:31737537|PMID:31899541|PMID:31994352|PMID:32048431|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32470535|PMID:32508908|PMID:32695137|PMID:32893267|PMID:32917565|PMID:33141630|PMID:33256261|PMID:33484326|PMID:33498651|PMID:33600800|PMID:33693037|PMID:33876311|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34505893|PMID:34691145|PMID:34930020|PMID:35442947|PMID:36102233|PMID:36197721|PMID:8528244|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9641694|PMID:9693036|PMID:9799083|PMID:9927399 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000156 Metaplasia ISO RGD:621503 D RGD:9068941 20200609 RGD associated with Stomach Diseases PMID:18587108|REF_RGD_ID:2317967 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:14661677|PMID:15913580|PMID:17210839|PMID:18752142|PMID:19646991|PMID:19841300|PMID:22818067|PMID:22947121|PMID:24033266|PMID:24687331|PMID:25741868|PMID:28438721|PMID:28492532 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9001050 Short QT Syndrome 2 ISO RGD:1353354 D RGD:7240710 20230517 OMIM 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9001050 Short QT Syndrome 2 ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 2 PMID:10024302|PMID:10367071|PMID:10482963|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11278406|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11761407|PMID:11997281|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12402336|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12702160|PMID:12736279|PMID:1346223|PMID:14510661|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15159330|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15500450|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16109388|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16818214|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17329207|PMID:17329209|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18004376|PMID:18174212|PMID:18222468|PMID:18426444|PMID:18452873|PMID:18599533|PMID:18611041|PMID:18752142|PMID:19124472|PMID:19490272|PMID:19590188|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19862833|PMID:19934648|PMID:20044973|PMID:20421371|PMID:20436212|PMID:20486126|PMID:20541041|PMID:20662986|PMID:20850564|PMID:20851114|PMID:21063070|PMID:21118729|PMID:21131640|PMID:21185501|PMID:21215473|PMID:21350584|PMID:21451124|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21956039|PMID:22199116|PMID:22250012|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23098067|PMID:23123674|PMID:23124029|PMID:23130128|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23350853|PMID:23375927|PMID:23392653|PMID:23396983|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23788249|PMID:23851063|PMID:23861362|PMID:23890619|PMID:23935525|PMID:23995044|PMID:24006450|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24218437|PMID:24223155|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24681627|PMID:24762593|PMID:24818999|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25119684|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25351510|PMID:25453094|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25854863|PMID:25916402|PMID:25929701|PMID:25974115|PMID:25985138|PMID:26019114|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26168993|PMID:26228265|PMID:26318259|PMID:26346102|PMID:26385840|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26704558|PMID:26743238|PMID:26937405|PMID:27000522|PMID:27041096|PMID:27041150|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27884173|PMID:27920829|PMID:28302345|PMID:28360401|PMID:28383569|PMID:28438721|PMID:28449774|PMID:28492532|PMID:28518168|PMID:28588847|PMID:28600177|PMID:28606196|PMID:28704380|PMID:28720088|PMID:28944242|PMID:28988457|PMID:29037160|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29372044|PMID:29379719|PMID:29449639|PMID:29532034|PMID:29544605|PMID:29598884|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29876285|PMID:29922582|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30571187|PMID:30615648|PMID:30755392|PMID:30847666|PMID:30935642|PMID:30974404|PMID:31043699|PMID:31226583|PMID:31315195|PMID:31427586|PMID:31447099|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31737537 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9001050 Short QT Syndrome 2 ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 2 PMID:31994352|PMID:32048431|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32686758|PMID:32695137|PMID:32936022|PMID:33087929|PMID:33181513|PMID:33600800|PMID:33693037|PMID:33777698|PMID:34135346|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34428338|PMID:34505893|PMID:34697415|PMID:35442947|PMID:8487283|PMID:9312006|PMID:9323054|PMID:9386136|PMID:9536098|PMID:9641694|PMID:9799083|PMID:9927399 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9001295 Achlorhydria ISO RGD:621503 D RGD:9068941 20200609 RGD DNA:deletion:exon (rat) PMID:16368876|REF_RGD_ID:1581602 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9001790 Long QT Syndrome 1/2 ISO RGD:1353354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1/2, digenic PMID:10086971|PMID:10376919|PMID:10973849|PMID:12702160|PMID:14678125|PMID:15028050|PMID:15498462|PMID:16627448|PMID:16922724|PMID:17470695|PMID:17984373|PMID:19490272|PMID:19716085|PMID:19841300|PMID:20368164|PMID:22095730|PMID:22581653|PMID:22949429|PMID:24217263|PMID:24861447|PMID:25192979|PMID:25741868|PMID:28492532|PMID:8528244 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:10482963|PMID:10704188|PMID:10737999|PMID:10973849|PMID:11530100|PMID:12736279|PMID:14510661|PMID:15935335|PMID:16556866|PMID:19862833|PMID:22309168|PMID:22539601|PMID:23098067|PMID:23392653|PMID:24033266|PMID:24052033|PMID:24552659|PMID:24912595|PMID:25236808|PMID:25705178|PMID:25741868|PMID:26019114|PMID:26546361|PMID:27451284|PMID:27816319|PMID:27831900|PMID:28438721|PMID:28492532|PMID:28720088|PMID:29247119|PMID:29372044|PMID:29379719|PMID:29654130|PMID:29661707|PMID:29740400|PMID:29922582|PMID:32238909|PMID:9323054 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9002245 Intestinal Neoplasms ISO RGD:1353354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23975432 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1353354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823764 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9003163 Heart Block ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:10482963|PMID:10704188|PMID:10737999|PMID:10973849|PMID:11530100|PMID:12736279|PMID:14510661|PMID:15935335|PMID:16556866|PMID:19862833|PMID:22309168|PMID:22539601|PMID:23098067|PMID:23392653|PMID:24033266|PMID:24052033|PMID:24552659|PMID:24912595|PMID:25236808|PMID:25705178|PMID:25741868|PMID:26019114|PMID:26546361|PMID:27451284|PMID:27816319|PMID:27831900|PMID:28438721|PMID:28492532|PMID:28720088|PMID:29247119|PMID:29372044|PMID:29379719|PMID:29654130|PMID:29661707|PMID:29740400|PMID:29922582|PMID:32238909|PMID:9323054 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1353354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9004538 Hearing Loss ISO RGD:1353354 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:19716085|PMID:23788249|PMID:25525159|PMID:25741868|PMID:27707468|PMID:28492532|PMID:30311386 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10024302|PMID:10086971|PMID:10090529|PMID:10090886|PMID:10220144|PMID:10220146|PMID:10367071|PMID:10376919|PMID:10409658|PMID:10482963|PMID:10483966|PMID:10508236|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10868744|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11278406|PMID:11410559|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11799244|PMID:11997281|PMID:12037327|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12205790|PMID:12388934|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12736279|PMID:12820704|PMID:12877697|PMID:1346223|PMID:14510661|PMID:14531214|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14756674|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15528464|PMID:15635208|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16039274|PMID:16253915|PMID:16414944|PMID:16556865|PMID:16556866|PMID:16627448|PMID:16818214|PMID:16831322|PMID:16922724|PMID:16931984|PMID:16937190|PMID:16981927|PMID:16987820|PMID:17053194|PMID:17088455|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17224687|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17482572|PMID:17576681|PMID:17698596|PMID:17905336|PMID:17984373|PMID:17999538|PMID:18004376|PMID:18079560|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18400097|PMID:18452873|PMID:18464931|PMID:18580685|PMID:18611041|PMID:18713323|PMID:18752142|PMID:18774102|PMID:19008479|PMID:19114714|PMID:19160088|PMID:19261104|PMID:19322600|PMID:19348785|PMID:19490272|PMID:19540844|PMID:19549851|PMID:19590188|PMID:19632626|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:19959132|PMID:20031635|PMID:20044973|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20196769|PMID:20226272|PMID:20348026|PMID:20368164|PMID:20403459|PMID:20421371|PMID:20479111|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20662986|PMID:20833965|PMID:20850564|PMID:20851114|PMID:20981092|PMID:21059661|PMID:21118729|PMID:21129503|PMID:21131640|PMID:21185501|PMID:21215473|PMID:21241800|PMID:21241880|PMID:21350584|PMID:21451124|PMID:21482651|PMID:21499742|PMID:21511995|PMID:21576493|PMID:21635612|PMID:21778721|PMID:21895724|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22429796|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22613981|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22949429|PMID:22956155|PMID:23000022|PMID:23075154|PMID:23092362|PMID:23098067|PMID:23123674|PMID:23124029|PMID:23130128|PMID:23139254|PMID:23153844|PMID:23158531|PMID:23193492|PMID:23251633|PMID:23271449|PMID:23291057|PMID:23304551|PMID:23324056|PMID:23350853|PMID:23392653|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23844633|PMID:23851063|PMID:23861362|PMID:23935525|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24080067|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24217263|PMID:24218437|PMID:24223155|PMID:24269949|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24552659|PMID:24606995|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24721657|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25028166|PMID:25037568|PMID:25119684|PMID:25139741|PMID:25187895|PMID:25192979|PMID:25236808|PMID:25294783|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25444851|PMID:25453094|PMID:25467552|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25645639|PMID:25649125|PMID:25705178|PMID:25741868|PMID:25786344|PMID:25825456|PMID:25845942|PMID:25854863|PMID:25916402|PMID:25929701|PMID:25935074|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26063740|PMID:26066609 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:26077850|PMID:26132555|PMID:26159999|PMID:26318259|PMID:26344792|PMID:26346102|PMID:26383259|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26813553|PMID:26937405|PMID:27000522|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27332903|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27479201|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27884173|PMID:27917693|PMID:27920829|PMID:27921062|PMID:28012188|PMID:28217227|PMID:28249770|PMID:28264985|PMID:28302345|PMID:28360401|PMID:28438721|PMID:28449774|PMID:28491751|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28566242|PMID:28575668|PMID:28588847|PMID:28619993|PMID:28720088|PMID:28739325|PMID:28749187|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29167462|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29372044|PMID:29379719|PMID:29401425|PMID:29439887|PMID:29447731|PMID:29449639|PMID:29451064|PMID:29497013|PMID:29532034|PMID:29544605|PMID:29598884|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29790872|PMID:29876285|PMID:29922582|PMID:29925740|PMID:29952348|PMID:30008122|PMID:30122538|PMID:30530868|PMID:30571187|PMID:30591322|PMID:30615648|PMID:30755392|PMID:30847666|PMID:30935642|PMID:30974404|PMID:31009818|PMID:31019283|PMID:31043699|PMID:31226583|PMID:31315195|PMID:31395126|PMID:31424047|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31729605|PMID:31737537|PMID:31883792|PMID:31899541|PMID:31980526|PMID:31994352|PMID:32009526|PMID:32048431|PMID:32168391|PMID:32238909|PMID:32383558|PMID:32470535|PMID:32508908|PMID:32686758|PMID:32695137|PMID:32797034|PMID:32893267|PMID:32936022|PMID:33087929|PMID:33181513|PMID:33256261|PMID:33484326|PMID:33498651|PMID:33600800|PMID:33664273|PMID:33777698|PMID:33876311|PMID:34135346|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34505893|PMID:34691145|PMID:34697415|PMID:34884666|PMID:35442947|PMID:35535697|PMID:36102233|PMID:36197721|PMID:8487283|PMID:8528244|PMID:8872472|PMID:9020846|PMID:9024139|PMID:9302275|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9570196|PMID:9693036|PMID:9781056|PMID:9799083|PMID:9927399 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9005444 Torsades de Pointes ISO RGD:1353354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Torsades de pointes PMID:17161064|PMID:22581653|PMID:28492532|PMID:29532034|PMID:30571187 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:15781747|PMID:15840476|PMID:19716085|PMID:19841300|PMID:22581653|PMID:22949429|PMID:23392653|PMID:23631430|PMID:24033266|PMID:24947509|PMID:25741868|PMID:25854863|PMID:26546361|PMID:26669661|PMID:27831900|PMID:28492532|PMID:30755392|PMID:31447099 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9007 sudden infant death syndrome ISO RGD:1353354 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:15913580|PMID:16534005|PMID:17210839|PMID:17222736|PMID:17470695|PMID:17999538|PMID:18222468|PMID:18596570|PMID:18611041|PMID:19490272|PMID:19716085|PMID:19815527|PMID:21185501|PMID:21215473|PMID:21778721|PMID:22581653|PMID:22677073|PMID:23304551|PMID:23465283|PMID:24033266|PMID:24920132|PMID:25637381|PMID:25741868|PMID:26066609|PMID:26332594|PMID:27884173|PMID:28492532|PMID:29197658|PMID:30302399|PMID:30615648|PMID:31043699|PMID:31337358|PMID:31737537 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9007070 Silver-Russell Syndrome 1 ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 1 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9007479 Habitual Abortions ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion PMID:16414944|PMID:22581653|PMID:25741868|PMID:34398675 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9008197 Familial Atrial Fibrillation 3 ISO RGD:1353354 D RGD:7240710 20230517 OMIM 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9008197 Familial Atrial Fibrillation 3 ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 3 PMID:10024302|PMID:10367071|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11761407|PMID:11997281|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12402336|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12702160|PMID:12736279|PMID:12877697|PMID:1346223|PMID:14510661|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15368194|PMID:15466642|PMID:15500450|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16818214|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17222736|PMID:17329207|PMID:17329209|PMID:17467630|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18004376|PMID:18174212|PMID:18222468|PMID:18426444|PMID:18452873|PMID:18599533|PMID:18611041|PMID:18752142|PMID:19124472|PMID:19160088|PMID:19165230|PMID:19490272|PMID:19590188|PMID:19632626|PMID:19646991|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19862833|PMID:19934648|PMID:20044973|PMID:20421371|PMID:20486126|PMID:20541041|PMID:20662986|PMID:20850564|PMID:20851114|PMID:21063070|PMID:21118729|PMID:21131640|PMID:21185501|PMID:21215473|PMID:21224508|PMID:21350584|PMID:21451124|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22250012|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22456477|PMID:22508963|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22818067|PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23098067|PMID:23123674|PMID:23124029|PMID:23130128|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23350853|PMID:23392653|PMID:23396983|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23788249|PMID:23851063|PMID:23861362|PMID:23890619|PMID:23935525|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24096004|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24218437|PMID:24223155|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24681627|PMID:24687331|PMID:24762593|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25119684|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25351510|PMID:25444851|PMID:25447171|PMID:25453094|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25854863|PMID:25916402|PMID:25929701|PMID:25985138|PMID:26019114|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26187847|PMID:26228265|PMID:26318259|PMID:26346102|PMID:26385840|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26743238|PMID:26937405|PMID:27000522|PMID:27041096|PMID:27041150|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27810088|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27920829|PMID:28302345|PMID:28360401|PMID:28364778|PMID:28383569|PMID:28438721|PMID:28449774|PMID:28492532|PMID:28518168|PMID:28588847|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28944242|PMID:28988457|PMID:29037160|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29372044|PMID:29379719|PMID:29449639|PMID:29532034|PMID:29544605|PMID:29598884|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29790872|PMID:29876285|PMID:29922582|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30571187 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9008197 Familial Atrial Fibrillation 3 ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 3 PMID:30615648|PMID:30755392|PMID:30847666|PMID:30935642|PMID:30967788|PMID:30974404|PMID:31043699|PMID:31226583|PMID:31315195|PMID:31427586|PMID:31447099|PMID:31565860|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31737537|PMID:31994352|PMID:32048431|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32686758|PMID:32695137|PMID:32917565|PMID:32936022|PMID:33087929|PMID:33181513|PMID:33600800|PMID:33693037|PMID:33777698|PMID:33876311|PMID:34135346|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34428338|PMID:34505893|PMID:34697415|PMID:35442947|PMID:8487283|PMID:9312006|PMID:9323054|PMID:9386136|PMID:9536098|PMID:9641694|PMID:9799083|PMID:9927399 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9008681 Deafness ISO RGD:621503 D RGD:9068941 20200609 RGD DNA:deletion:exon (rat) PMID:16368876|REF_RGD_ID:1581602 12302746 KCNQ1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711366|PMID:18711367|PMID:26551672 12302768 DIAPH3 diaphanous related formin 3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1350370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12302768 DIAPH3 diaphanous related formin 3 gene DOID:0060690 autosomal dominant auditory neuropathy 1 ISO RGD:1350370 D RGD:7240710 20180130 OMIM 12302768 DIAPH3 diaphanous related formin 3 gene DOID:0060690 autosomal dominant auditory neuropathy 1 ISO RGD:1350370 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 PMID:20624953|PMID:25741868|PMID:27658576|PMID:28492532 12302768 DIAPH3 diaphanous related formin 3 gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1314906 D RGD:9068941 20220825 MouseDO 12302768 DIAPH3 diaphanous related formin 3 gene DOID:630 genetic disease ISO RGD:1350370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:30311386 12302768 DIAPH3 diaphanous related formin 3 gene DOID:9004538 Hearing Loss ISO RGD:1350370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:28492532|PMID:30311386 12302838 GPR26 G protein-coupled receptor 26 gene DOID:10283 prostate cancer ISO RGD:736769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12302838 GPR26 G protein-coupled receptor 26 gene DOID:630 genetic disease ISO RGD:736769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302845 BANK1 B cell scaffold protein with ankyrin repeats 1 gene DOID:1580 diffuse scleroderma susceptibility ISO RGD:1342509 D RGD:9068941 20200609 RGD DNA:SNPs: :rs10516487,rs17266594,rs3733197(human) PMID:19815934|REF_RGD_ID:9684975 12302845 BANK1 B cell scaffold protein with ankyrin repeats 1 gene DOID:3633 beta-mannosidosis ISO RGD:1342509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 12302845 BANK1 B cell scaffold protein with ankyrin repeats 1 gene DOID:418 systemic scleroderma susceptibility ISO RGD:1342509 D RGD:9068941 20200609 RGD DNA:SNPs: :rs10516487,rs17266594(human) PMID:19815934|REF_RGD_ID:9684975 12302845 BANK1 B cell scaffold protein with ankyrin repeats 1 gene DOID:630 genetic disease ISO RGD:1342509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302845 BANK1 B cell scaffold protein with ankyrin repeats 1 gene DOID:7188 autoimmune thyroiditis onset ISO RGD:1342509 D RGD:9068941 20200609 RGD DNA:SNP: :rs3733197(human) PMID:24127308|REF_RGD_ID:9684981 12302845 BANK1 B cell scaffold protein with ankyrin repeats 1 gene DOID:8893 psoriasis susceptibility ISO RGD:1342509 D RGD:9068941 20200609 RGD DNA:haplotype: : rs10516487, rs3733197, rs17266594(human) PMID:21989138|REF_RGD_ID:9684977 12302845 BANK1 B cell scaffold protein with ankyrin repeats 1 gene DOID:9007355 Hashimoto Disease susceptibility ISO RGD:1342509 D RGD:9068941 20200609 RGD DNA:SNP: :rs3733197(human) PMID:24127308|REF_RGD_ID:9684981 12302845 BANK1 B cell scaffold protein with ankyrin repeats 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1342509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Association with systemic lupus erythematosus | ClinVar Annotator: match by term: Systemic lupus erythematosus PMID:18204447 12302845 BANK1 B cell scaffold protein with ankyrin repeats 1 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1342509 D RGD:9068941 20200609 RGD DNA:SNPs:introns: PMID:18204447|REF_RGD_ID:9684976 12302845 BANK1 B cell scaffold protein with ankyrin repeats 1 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1342509 D RGD:9068941 20200609 RGD DNA:SNP: :rs3733197(human) PMID:24342660|REF_RGD_ID:9684973 12302874 MSX1 msh homeobox 1 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:731562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14630905 12302874 MSX1 msh homeobox 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:731562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27356075 12302874 MSX1 msh homeobox 1 gene DOID:0050567 orofacial cleft ISO RGD:731563 D RGD:9068941 20220825 MouseDO OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892 12302874 MSX1 msh homeobox 1 gene DOID:0050591 tooth agenesis ISO RGD:731562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligodontia PMID:24914010 12302874 MSX1 msh homeobox 1 gene DOID:0080399 orofacial cleft 5 ISO RGD:731562 D RGD:7240710 20180130 OMIM 12302874 MSX1 msh homeobox 1 gene DOID:0080399 orofacial cleft 5 ISO RGD:731562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofacial cleft 5 PMID:12807959|PMID:15354328|PMID:16327884|PMID:16868654|PMID:21448236|PMID:25741868|PMID:28492532 12302874 MSX1 msh homeobox 1 gene DOID:11383 cryptorchidism ISO RGD:620929 D RGD:9068941 20200609 RGD PMID:18222913|REF_RGD_ID:5132606 12302874 MSX1 msh homeobox 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:731562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12302874 MSX1 msh homeobox 1 gene DOID:13714 anodontia ISO RGD:731562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12302874 MSX1 msh homeobox 1 gene DOID:13714 anodontia ISO RGD:731562 D RGD:9068941 20200609 RGD autosomal dominant hypodontia, HYD1, OMIM:106600 PMID:8696335|REF_RGD_ID:1600484 12302874 MSX1 msh homeobox 1 gene DOID:630 genetic disease ISO RGD:731562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302874 MSX1 msh homeobox 1 gene DOID:6678 tooth and nail syndrome ISO RGD:731562 D RGD:7240710 20180130 OMIM 12302874 MSX1 msh homeobox 1 gene DOID:6678 tooth and nail syndrome ISO RGD:731562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:11369996|PMID:12807959|PMID:14630905|PMID:15354328|PMID:16327884|PMID:16868654|PMID:21448236|PMID:23991204|PMID:25741868|PMID:25874811|PMID:27917906|PMID:28166811|PMID:28492532|PMID:30192788|PMID:9484139|PMID:9742121 12302874 MSX1 msh homeobox 1 gene DOID:674 cleft palate ISO RGD:731562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12163415|PMID:12701100|PMID:15301380 12302874 MSX1 msh homeobox 1 gene DOID:674 cleft palate ISO RGD:731562 D RGD:9068941 20200609 RGD DNA:mutations, SNPs:multiple (human) PMID:12807959|REF_RGD_ID:5132609 12302874 MSX1 msh homeobox 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:731562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12302874 MSX1 msh homeobox 1 gene DOID:9005151 Selective Tooth Agenesis 1 ISO RGD:731562 D RGD:7240710 20190315 OMIM 12302874 MSX1 msh homeobox 1 gene DOID:9005151 Selective Tooth Agenesis 1 ISO RGD:731562 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 1 PMID:10742093|PMID:12097313|PMID:15264286|PMID:16498076|PMID:24914010|PMID:25741868|PMID:28492532|PMID:8696335|PMID:9742121 12302874 MSX1 msh homeobox 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:731562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 12302874 MSX1 msh homeobox 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:731562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12163415|PMID:14630905|PMID:14654219|PMID:15301380 12302874 MSX1 msh homeobox 1 gene DOID:9008763 Femoral Fractures ISO RGD:620929 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:bone, osteoblast, chondrocyte PMID:16451220|REF_RGD_ID:5132608 12302874 MSX1 msh homeobox 1 gene DOID:9009007 Tooth Abnormalities ISO RGD:731562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14630905 12302874 MSX1 msh homeobox 1 gene DOID:9296 cleft lip ISO RGD:731562 D RGD:9068941 20200609 RGD DNA:mutations, SNPs:multiple (human) PMID:12807959|REF_RGD_ID:5132609 12302879 MYOCD myocardin gene DOID:0060224 atrial fibrillation ISO RGD:1344327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12302879 MYOCD myocardin gene DOID:0060889 prune belly syndrome ISO RGD:1344327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prune belly syndrome PMID:31513549 12302879 MYOCD myocardin gene DOID:0112014 congenital megabladder ISO RGD:1344327 D RGD:7240710 20200101 OMIM 12302879 MYOCD myocardin gene DOID:0112014 congenital megabladder ISO RGD:1344327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megabladder, congenital PMID:25741868|PMID:31513549 12302879 MYOCD myocardin gene DOID:10283 prostate cancer ISO RGD:1344327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12302879 MYOCD myocardin gene DOID:12930 dilated cardiomyopathy ISO RGD:1614957 D RGD:9068941 20220825 MouseDO 12302879 MYOCD myocardin gene DOID:13832 patent ductus arteriosus ISO RGD:1614957 D RGD:9068941 20220825 MouseDO OMIM:607411 12302879 MYOCD myocardin gene DOID:1826 epilepsy ISO RGD:1344327 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25558065 12302879 MYOCD myocardin gene DOID:630 genetic disease ISO RGD:1344327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12302879 MYOCD myocardin gene DOID:9003936 Cardiomegaly ISO RGD:1344327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16556869 12302901 ARHGAP44 Rho GTPase activating protein 44 gene DOID:630 genetic disease ISO RGD:1604841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302932 PRSS27 serine protease 27 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1353298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12302932 PRSS27 serine protease 27 gene DOID:1826 epilepsy ISO RGD:1353298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12302932 PRSS27 serine protease 27 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1353298 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12302932 PRSS27 serine protease 27 gene DOID:630 genetic disease ISO RGD:1353298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302942 KLHL4 kelch like family member 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12302942 KLHL4 kelch like family member 4 gene DOID:12849 autistic disorder ISO RGD:1349490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12302942 KLHL4 kelch like family member 4 gene DOID:630 genetic disease ISO RGD:1349490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302959 BRF2 BRF2 RNA polymerase III transcription initiation factor subunit gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1318806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 12302959 BRF2 BRF2 RNA polymerase III transcription initiation factor subunit gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1318806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 12302959 BRF2 BRF2 RNA polymerase III transcription initiation factor subunit gene DOID:10283 prostate cancer ISO RGD:1318806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12302959 BRF2 BRF2 RNA polymerase III transcription initiation factor subunit gene DOID:607 paraplegia ISO RGD:1318806 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12302959 BRF2 BRF2 RNA polymerase III transcription initiation factor subunit gene DOID:630 genetic disease ISO RGD:1318806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12302967 ATRIP ATR interacting protein gene DOID:0050569 Seckel syndrome ISO RGD:30306251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome PMID:25741868 12302967 ATRIP ATR interacting protein gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:30306251 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME PMID:16845398|PMID:17846997|PMID:20131292|PMID:23602593|PMID:24033266|PMID:24183309|PMID:24300241|PMID:25582466|PMID:25604658|PMID:25741868|PMID:26467025|PMID:26938784|PMID:28492532|PMID:28750028 12302967 ATRIP ATR interacting protein gene DOID:0060386 Chilblain lupus ISO RGD:30306251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chilblain lupus PMID:16960810|PMID:17357087|PMID:17440703|PMID:18805785|PMID:20799324|PMID:20871604|PMID:21808053|PMID:22829693|PMID:23989343|PMID:25848017|PMID:28492532 12302967 ATRIP ATR interacting protein gene DOID:0111567 retinal vasculopathy with cerebral leukodystrophy ISO RGD:30306251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | ClinVar Annotator: match by term: Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:1821204|PMID:18583934|PMID:18805785|PMID:20131292|PMID:21270825|PMID:21937424|PMID:23602593|PMID:23881107|PMID:23979357|PMID:24033266|PMID:24183309|PMID:24224166|PMID:25138095|PMID:25582466|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:26938784|PMID:27391121|PMID:27604306|PMID:28089741|PMID:28492532|PMID:29239743|PMID:30219631|PMID:3174024|PMID:31980526|PMID:33504652|PMID:34426522|PMID:9371916 12302967 ATRIP ATR interacting protein gene DOID:13945 CADASIL ISO RGD:30306251 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy PMID:17660818|PMID:21270825|PMID:23881107|PMID:28492532|PMID:35307828 12302967 ATRIP ATR interacting protein gene DOID:630 genetic disease ISO RGD:30306251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:18583934|PMID:18805785|PMID:20131292|PMID:21270825|PMID:21937424|PMID:23881107|PMID:23979357|PMID:24033266|PMID:24183309|PMID:24224166|PMID:25138095|PMID:25500883|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:27391121|PMID:28089741|PMID:28492532|PMID:29239743|PMID:30219631|PMID:31980526|PMID:33504652|PMID:33606975|PMID:34426522 12302967 ATRIP ATR interacting protein gene DOID:8725 vascular dementia ISO RGD:30306251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:17660818|PMID:21270825|PMID:23881107|PMID:28492532|PMID:35307828 12302967 ATRIP ATR interacting protein gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:30306251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombotic microangiopathy PMID:29941221 12302967 ATRIP ATR interacting protein gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:30306251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:16960810|PMID:17293595|PMID:17357087|PMID:17440703|PMID:17660818|PMID:17660820|PMID:17846997|PMID:1821204|PMID:18583934|PMID:18805785|PMID:19344873|PMID:19875384|PMID:20131292|PMID:20799324|PMID:20871604|PMID:21270825|PMID:21808053|PMID:21937424|PMID:22367235|PMID:22829693|PMID:23602593|PMID:23881107|PMID:23918923|PMID:23979357|PMID:23989343|PMID:24033266|PMID:24088041|PMID:24183309|PMID:24224166|PMID:24300241|PMID:25138095|PMID:25500883|PMID:25582466|PMID:25604658|PMID:25741868|PMID:25848017|PMID:25906927|PMID:26150267|PMID:26182405|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26691497|PMID:26938784|PMID:27391121|PMID:27604306|PMID:28089741|PMID:28492532|PMID:28750028|PMID:28919362|PMID:29239743|PMID:29387804|PMID:29453956|PMID:30219631|PMID:31130681|PMID:31589614|PMID:31719132|PMID:3174024|PMID:31980526|PMID:32860008|PMID:33504652|PMID:33606975|PMID:33892200|PMID:34426522|PMID:34440436|PMID:35307828 12302967 ATRIP ATR interacting protein gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:30306251 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12302967 ATRIP ATR interacting protein gene DOID:9005881 Chilblain Lupus 1 ISO RGD:30306251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chilblain lupus 1 PMID:16845398|PMID:23602593|PMID:24183309|PMID:25582466|PMID:25604658|PMID:25741868|PMID:26938784|PMID:28492532 12302967 ATRIP ATR interacting protein gene DOID:9074 systemic lupus erythematosus ISO RGD:30306251 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:18583934|PMID:18805785|PMID:20131292|PMID:21270825|PMID:21937424|PMID:23881107|PMID:24033266|PMID:24224166|PMID:24300241|PMID:25138095|PMID:25582466|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:27391121|PMID:28089741|PMID:28492532|PMID:28750028|PMID:29239743|PMID:30219631|PMID:31980526|PMID:33504652|PMID:34426522 12302986 OPN4 opsin 4 gene DOID:630 genetic disease ISO RGD:1349299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12303001 IGSF23 immunoglobulin superfamily member 23 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:5132191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12303001 IGSF23 immunoglobulin superfamily member 23 gene DOID:630 genetic disease ISO RGD:5132191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12303010 UCKL1 uridine-cytidine kinase 1 like 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1342858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12303010 UCKL1 uridine-cytidine kinase 1 like 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1342858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12303010 UCKL1 uridine-cytidine kinase 1 like 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1342858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12303010 UCKL1 uridine-cytidine kinase 1 like 1 gene DOID:630 genetic disease ISO RGD:1342858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12303042 KNCN kinocilin gene DOID:630 genetic disease ISO RGD:1604992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12303073 CLDN34 claudin 34 gene DOID:12849 autistic disorder ISO RGD:9837188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12303073 CLDN34 claudin 34 gene DOID:630 genetic disease ISO RGD:9837188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12303085 GIMD1 GIMAP family P-loop NTPase domain containing 1 gene DOID:630 genetic disease ISO RGD:6770684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12303092 SH2D2A SH2 domain containing 2A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12303092 SH2D2A SH2 domain containing 2A gene DOID:0070146 hereditary sensory neuropathy type 4 ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV PMID:25741868 12303092 SH2D2A SH2 domain containing 2A gene DOID:0080600 COVID-19 ISO RGD:1345635 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12303092 SH2D2A SH2 domain containing 2A gene DOID:0111940 immunodeficiency 42 ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12303092 SH2D2A SH2 domain containing 2A gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12303092 SH2D2A SH2 domain containing 2A gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1345635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12303092 SH2D2A SH2 domain containing 2A gene DOID:1540 parathyroid carcinoma ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12303092 SH2D2A SH2 domain containing 2A gene DOID:2377 multiple sclerosis ISO RGD:1345635 D RGD:9068941 20200609 RGD DNA:repeat:promoter:-341(GA)13-33 (human) PMID:11528519|REF_RGD_ID:1358573 12303092 SH2D2A SH2 domain containing 2A gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1345635 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:18554728|REF_RGD_ID:2298871 12303092 SH2D2A SH2 domain containing 2A gene DOID:5812 MHC class II deficiency ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12303092 SH2D2A SH2 domain containing 2A gene DOID:630 genetic disease ISO RGD:1345635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12303092 SH2D2A SH2 domain containing 2A gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345635 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:15129233|REF_RGD_ID:2298870 12303092 SH2D2A SH2 domain containing 2A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12303128 LOC102151783 inhibitor of DNA binding 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2859 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord (rat) PMID:11746449|REF_RGD_ID:9686138 12303128 LOC102151783 inhibitor of DNA binding 2 gene DOID:9000352 Vascular System Injuries ISO RGD:2859 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery, blood vessel wall (rat) PMID:11706002|REF_RGD_ID:619536 12303143 OVOL3 ovo like zinc finger 3 gene DOID:0110222 Brugada syndrome 5 ISO RGD:5683924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12303143 OVOL3 ovo like zinc finger 3 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:5683924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12303214 CTSS cathepsin S gene DOID:0060180 colitis ISO RGD:731651 D RGD:9068941 20200609 RGD protein:increased activity:cecum, colon, spinal cord PMID:21802389|REF_RGD_ID:5686873 12303214 CTSS cathepsin S gene DOID:0111940 immunodeficiency 42 ISO RGD:1350928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12303214 CTSS cathepsin S gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1350928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12303214 CTSS cathepsin S gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1350928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12303214 CTSS cathepsin S gene DOID:10652 Alzheimer's disease ISO RGD:1350928 D RGD:9068941 20200609 RGD PMID:7717452|REF_RGD_ID:5686914 12303214 CTSS cathepsin S gene DOID:10941 intracranial aneurysm ISO RGD:1350928 D RGD:9068941 20200609 RGD protein:increased expression:brain, artery PMID:18635848|REF_RGD_ID:2306495 12303214 CTSS cathepsin S gene DOID:10941 intracranial aneurysm ISO RGD:621513 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, artery PMID:18635848|REF_RGD_ID:2306495 12303214 CTSS cathepsin S gene DOID:11723 Duchenne muscular dystrophy ISO RGD:731651 D RGD:9068941 20220825 MouseDO OMIM:310200 12303214 CTSS cathepsin S gene DOID:11832 visual epilepsy ISO RGD:731651 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus CA1, microglial cell PMID:17997037|REF_RGD_ID:5686910 12303214 CTSS cathepsin S gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:731651 D RGD:9068941 20200609 RGD PMID:12368333|REF_RGD_ID:5686913 12303214 CTSS cathepsin S gene DOID:14250 Down syndrome ISO RGD:1350928 D RGD:9068941 20200609 RGD PMID:7717452|REF_RGD_ID:5686914 12303214 CTSS cathepsin S gene DOID:1540 parathyroid carcinoma ISO RGD:1350928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12303214 CTSS cathepsin S gene DOID:1936 atherosclerosis ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:12213722|REF_RGD_ID:5687152 12303214 CTSS cathepsin S gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1350928 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:blood, leukocyte PMID:21143385|REF_RGD_ID:5687146 12303214 CTSS cathepsin S gene DOID:2773 contact dermatitis ISO RGD:1350928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12303214 CTSS cathepsin S gene DOID:3407 carotid artery disease ISO RGD:1350928 D RGD:9068941 20200609 RGD PMID:9691094|REF_RGD_ID:5687151 12303214 CTSS cathepsin S gene DOID:5812 MHC class II deficiency ISO RGD:1350928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12303214 CTSS cathepsin S gene DOID:630 genetic disease ISO RGD:1350928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12303214 CTSS cathepsin S gene DOID:870 neuropathy onset ISO RGD:1350928 D RGD:9068941 20200609 RGD associated with multiple myeloma;DNA:SNP:intron:c.249+541C>T (rs12568757) (human) PMID:21228734|REF_RGD_ID:5686916 12303214 CTSS cathepsin S gene DOID:9000039 Spinal Cord Injuries ISO RGD:621513 D RGD:9068941 20200609 RGD PMID:16344894|REF_RGD_ID:2303423 12303214 CTSS cathepsin S gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12303214 CTSS cathepsin S gene DOID:9002211 Hyperalgesia ISO RGD:621513 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental PMID:22213084|REF_RGD_ID:5686870 12303214 CTSS cathepsin S gene DOID:9002211 Hyperalgesia ISO RGD:731651 D RGD:9068941 20200609 RGD associated with Colitis PMID:21802389|REF_RGD_ID:5686873 12303214 CTSS cathepsin S gene DOID:9002457 Experimental Arthritis ISO RGD:731651 D RGD:9068941 20200609 RGD PMID:21439785|REF_RGD_ID:5686915 12303214 CTSS cathepsin S gene DOID:9002605 Delayed Hypersensitivity ISO RGD:1350928 D RGD:9068941 20200609 RGD PMID:16631730|REF_RGD_ID:5687149 12303214 CTSS cathepsin S gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:731651 D RGD:9068941 20200609 RGD PMID:21439785|REF_RGD_ID:5686915 12303214 CTSS cathepsin S gene DOID:9004001 Facial Nerve Injuries ISO RGD:731651 D RGD:9068941 20200609 RGD PMID:17539023|REF_RGD_ID:5686912 12303214 CTSS cathepsin S gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1350928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19700239 12303214 CTSS cathepsin S gene DOID:9005968 Neuralgia ISO RGD:621513 D RGD:9068941 20200609 RGD PMID:17551020|PMID:18700000|REF_RGD_ID:5686878|REF_RGD_ID:5686911 12303214 CTSS cathepsin S gene DOID:9006487 Reoviridae Infections ISO RGD:731651 D RGD:9068941 20200609 RGD PMID:19640986|REF_RGD_ID:5686877 12303214 CTSS cathepsin S gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12303214 CTSS cathepsin S gene DOID:9970 obesity ISO RGD:1350928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21156398 12303232 MUC13 mucin 13, cell surface associated gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1350619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12303232 MUC13 mucin 13, cell surface associated gene DOID:326 ischemia ISO RGD:708547 D RGD:9068941 20200609 RGD protein:increased degradation:jejunum PMID:22768227|REF_RGD_ID:7349363 12303232 MUC13 mucin 13, cell surface associated gene DOID:9002992 Nematode Infections ISO RGD:1553384 D RGD:9068941 20200609 RGD protein:increased expression:cecum, glycocalyx PMID:21155842|REF_RGD_ID:7364766 12303232 MUC13 mucin 13, cell surface associated gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1350619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 12303232 MUC13 mucin 13, cell surface associated gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1350619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12303232 MUC13 mucin 13, cell surface associated gene DOID:9270 alkaptonuria ISO RGD:1350619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12303250 DAGLB diacylglycerol lipase beta gene DOID:630 genetic disease ISO RGD:1604501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12303273 EFHC2 EF-hand domain containing 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12303273 EFHC2 EF-hand domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1348000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Mental retardation, X-linked PMID:17221867|PMID:21681106|PMID:25741868|PMID:30208311 12303273 EFHC2 EF-hand domain containing 2 gene DOID:630 genetic disease ISO RGD:1348000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12303273 EFHC2 EF-hand domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12303273 EFHC2 EF-hand domain containing 2 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1348000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mental retardation, X-linked PMID:17221867|PMID:25741868 12303273 EFHC2 EF-hand domain containing 2 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1348000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:25972376|PMID:28492532 12303292 B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 gene DOID:0110777 hereditary spastic paraplegia 26 ISO RGD:731293 D RGD:7240710 20180130 OMIM 12303292 B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 gene DOID:0110777 hereditary spastic paraplegia 26 ISO RGD:731293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 26 PMID:16199547|PMID:17576681|PMID:23746551|PMID:25741868|PMID:28492532|PMID:32214227|PMID:9536098 12303292 B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 gene DOID:607 paraplegia ISO RGD:731293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:23746551|PMID:24103911|PMID:24283893|PMID:25741868|PMID:28492532|PMID:30521973|PMID:32214227|PMID:9536098 12303292 B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 gene DOID:630 genetic disease ISO RGD:731293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23746551|PMID:25741868|PMID:28492532|PMID:32214227 12303292 B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 gene DOID:6846 familial melanoma ISO RGD:731293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 12303310 MST1 macrophage stimulating 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12303310 MST1 macrophage stimulating 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12303310 MST1 macrophage stimulating 1 gene DOID:14268 sclerosing cholangitis ISO RGD:736655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21151127 12303310 MST1 macrophage stimulating 1 gene DOID:630 genetic disease ISO RGD:736655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12303310 MST1 macrophage stimulating 1 gene DOID:8577 ulcerative colitis ISO RGD:736655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438406|PMID:20228799 12303310 MST1 macrophage stimulating 1 gene DOID:8778 Crohn's disease ISO RGD:736655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438406 12303310 MST1 macrophage stimulating 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 12303310 MST1 macrophage stimulating 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:736655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12303310 MST1 macrophage stimulating 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12303310 MST1 macrophage stimulating 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 12303332 FCHSD1 FCH and double SH3 domains 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1317900 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12303332 FCHSD1 FCH and double SH3 domains 1 gene DOID:630 genetic disease ISO RGD:1317900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12303332 FCHSD1 FCH and double SH3 domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12303332 FCHSD1 FCH and double SH3 domains 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317900 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12303358 METTL8 methyltransferase 8, methylcytidine gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1605633 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12303358 METTL8 methyltransferase 8, methylcytidine gene DOID:0112264 Woodhouse-Sakati syndrome ISO RGD:1605633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Woodhouse-Sakati syndrome PMID:17576681|PMID:17710875|PMID:19026396|PMID:20507343|PMID:25741868|PMID:26612766|PMID:28492532|PMID:9536098 12303358 METTL8 methyltransferase 8, methylcytidine gene DOID:630 genetic disease ISO RGD:1605633 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12303399 PDE8A phosphodiesterase 8A gene DOID:2717 Bloom syndrome ISO RGD:1601777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12303399 PDE8A phosphodiesterase 8A gene DOID:630 genetic disease ISO RGD:1601777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12303399 PDE8A phosphodiesterase 8A gene DOID:9256 colorectal cancer ISO RGD:1601777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12303427 CCDC69 coiled-coil domain containing 69 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603313 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12303427 CCDC69 coiled-coil domain containing 69 gene DOID:630 genetic disease ISO RGD:1603313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12303427 CCDC69 coiled-coil domain containing 69 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603313 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12303458 GTF2E2 general transcription factor IIE subunit 2 gene DOID:0111872 nonphotosensitive trichothiodystrophy 6 ISO RGD:1320859 D RGD:7240710 20190315 OMIM 12303458 GTF2E2 general transcription factor IIE subunit 2 gene DOID:0111872 nonphotosensitive trichothiodystrophy 6 ISO RGD:1320859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 6, nonphotosensitive PMID:25741868|PMID:26996949|PMID:28492532 12303458 GTF2E2 general transcription factor IIE subunit 2 gene DOID:630 genetic disease ISO RGD:1320859 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:0050852 limb ischemia treatment ISO RGD:620713 D RGD:9068941 20200609 RGD PMID:25388665|REF_RGD_ID:11568031 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:0050902 medulloblastoma ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:10766980|PMID:23819449|PMID:25705862|PMID:25741868|PMID:26619011|PMID:26822237|PMID:26942290|PMID:27626068|PMID:33448156 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:0060321 umbilical hernia ISO RGD:732291 D RGD:9068941 20200609 RGD PMID:21238647|REF_RGD_ID:11567270 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:0060597 atypical chronic myeloid leukemia ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:15050920|REF_RGD_ID:11352668 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:0070004 myeloid neoplasm ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21936542|PMID:22875613 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:0070004 myeloid neoplasm ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:12969958|REF_RGD_ID:11352667 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:0070004 myeloid neoplasm treatment ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:15448205|REF_RGD_ID:11352309 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:732291 D RGD:9068941 20200609 RGD PMID:32195457|REF_RGD_ID:25330354 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:0081284 rosette-forming glioneuronal tumor ISO RGD:732290 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor PMID:10766980|PMID:23819449|PMID:25741868|PMID:26619011|PMID:26822237|PMID:26942290|PMID:27626068 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:19506298|REF_RGD_ID:11352666 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:732290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:12627230|PMID:17200176|PMID:25636053|PMID:25741868|PMID:28492532|PMID:32853167|PMID:33548149 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:732290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:12627230|PMID:16882753|PMID:17200176|PMID:25636053|PMID:25741868|PMID:28492532|PMID:32853167|PMID:33548149 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:732290 D RGD:7240710 20180130 OMIM 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:732290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:10629055|PMID:10690855|PMID:10861678|PMID:10942429|PMID:11173846|PMID:12627230|PMID:14513299|PMID:1456217|PMID:14564217|PMID:14613973|PMID:15365636|PMID:15605412|PMID:15625620|PMID:15793702|PMID:16199547|PMID:16418210|PMID:16470795|PMID:16606836|PMID:16757108|PMID:16764984|PMID:16882753|PMID:16957473|PMID:17154279|PMID:17200176|PMID:17235395|PMID:17360555|PMID:17530415|PMID:17576681|PMID:17963255|PMID:18034870|PMID:18160472|PMID:18596921|PMID:18985070|PMID:19489874|PMID:19707180|PMID:19820032|PMID:20696889|PMID:21209029|PMID:21247312|PMID:21700882|PMID:22035731|PMID:22249004|PMID:22319038|PMID:22378383|PMID:23329143|PMID:23348397|PMID:23533228|PMID:23643382|PMID:23657145|PMID:23812909|PMID:24031091|PMID:24127277|PMID:24204987|PMID:24497711|PMID:24759409|PMID:25064402|PMID:25077900|PMID:25251565|PMID:25383892|PMID:25394172|PMID:25425165|PMID:25501157|PMID:25636053|PMID:25741868|PMID:25759380|PMID:26467025|PMID:26708526|PMID:26931467|PMID:26942290|PMID:27170295|PMID:27246988|PMID:27363716|PMID:27502037|PMID:27596331|PMID:27884173|PMID:27884859|PMID:28008864|PMID:28492532|PMID:28754744|PMID:28833369|PMID:28915117|PMID:29168297|PMID:31200363|PMID:31475041|PMID:31605817|PMID:31748124|PMID:31837199|PMID:32853167|PMID:33337535|PMID:33442024|PMID:33448156|PMID:33532864|PMID:33548149|PMID:35738466|PMID:6881209|PMID:7795583|PMID:7874169|PMID:8948562|PMID:9536098 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:732290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:0111337 Jackson-Weiss syndrome ISO RGD:732290 D RGD:7240710 20180130 OMIM 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:0111337 Jackson-Weiss syndrome ISO RGD:732290 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome PMID:10861678|PMID:10942429|PMID:1456217|PMID:14564217|PMID:14613973|PMID:16957473|PMID:18034870|PMID:23812909|PMID:24127277|PMID:24497711|PMID:25251565|PMID:25741868|PMID:26942290|PMID:28492532|PMID:31837199|PMID:7795583|PMID:7874169 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:0111532 osteoglophonic dysplasia ISO RGD:732290 D RGD:7240710 20180130 OMIM 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:0111532 osteoglophonic dysplasia ISO RGD:732290 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fairbank-Keats syndrome | ClinVar Annotator: match by term: Osteoglophonic dysplasia PMID:10629055|PMID:12627230|PMID:12952917|PMID:15365636|PMID:15605412|PMID:15625620|PMID:16470795|PMID:16764984|PMID:17154279|PMID:17360555|PMID:17576681|PMID:17963255|PMID:18160472|PMID:18985070|PMID:19707180|PMID:20696889|PMID:22378383|PMID:23329143|PMID:23348397|PMID:23657145|PMID:24031091|PMID:25064402|PMID:25383892|PMID:25425165|PMID:25741868|PMID:25759380|PMID:26467025|PMID:26708526|PMID:26931467|PMID:27884173|PMID:28492532|PMID:35738466|PMID:9536098 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:0111586 Martsolf syndrome 1 ISO RGD:732290 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:25741868 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:24027026|REF_RGD_ID:13504747 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:10652 Alzheimer's disease ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:9748519|REF_RGD_ID:10402073 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:10754 otitis media ISO RGD:732291 D RGD:9068941 20220825 MouseDO OMIM:166760 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:11446 sciatic neuropathy ISO RGD:620713 D RGD:9068941 20200609 RGD mRNA:increased expression:neuron: PMID:8971765|REF_RGD_ID:10402092 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:11832 visual epilepsy ISO RGD:620713 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex,hippocampus,neuron, astrocyrte: PMID:8072686|REF_RGD_ID:10402045 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:12689 acoustic neuroma disease_progression ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:15354013|REF_RGD_ID:11567268 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:12960 acrocephalosyndactylia ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:7874169|REF_RGD_ID:11567243 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:12960 acrocephalosyndactylia ISO RGD:732290 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.P252R (human) PMID:25251565|REF_RGD_ID:11567271 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:13938 amenorrhea ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:14566 disease of cellular proliferation ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:25157968 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:14705 Pfeiffer syndrome ISO RGD:732290 D RGD:7240710 20180130 OMIM 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:14705 Pfeiffer syndrome ISO RGD:732290 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome PMID:10861678|PMID:10942429|PMID:11173846|PMID:14513299|PMID:1456217|PMID:14564217|PMID:14613973|PMID:15605412|PMID:15793702|PMID:16764984|PMID:16957473|PMID:18034870|PMID:23657145|PMID:23812909|PMID:24127277|PMID:24497711|PMID:25064402|PMID:25251565|PMID:25741868|PMID:26931467|PMID:26942290|PMID:28492532|PMID:31837199|PMID:7795583|PMID:7874169 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:1596 depressive disorder ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16861106 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22286583|PMID:27794399 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:1921 Klinefelter syndrome ISO RGD:732290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:12627230|PMID:17200176|PMID:25636053|PMID:25741868|PMID:28492532|PMID:32853167|PMID:33548149 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:1924 hypogonadism ISO RGD:732290 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypergonadotropic hypogonadism PMID:25741868 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:224 transient cerebral ischemia ISO RGD:620713 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex: PMID:8858623|REF_RGD_ID:10402044 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:2340 craniosynostosis ISO RGD:732290 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis, nonspecific PMID:15605412|PMID:16764984|PMID:23657145|PMID:25064402|PMID:25741868|PMID:26931467|PMID:28492532 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:732291 D RGD:9068941 20200609 RGD PMID:18068632|PMID:23576558|REF_RGD_ID:13504748|REF_RGD_ID:2298702 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:2671 transitional cell carcinoma ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:25705862|PMID:26619011|PMID:26942290|PMID:33448156 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:3068 glioblastoma ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:25705862|PMID:26619011|PMID:26942290|PMID:33448156 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:3069 malignant astrocytoma ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23817572 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:3070 high grade glioma ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma PMID:10766980|PMID:23819449|PMID:25705862|PMID:25741868|PMID:26619011|PMID:26822237|PMID:26942290|PMID:27626068|PMID:33448156 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:3213 demyelinating disease ISO RGD:732291 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:11020217|REF_RGD_ID:8655565 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:3614 Kallmann syndrome ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anosmic hypogonadism | ClinVar Annotator: match by term: Hypogonadism with anosmia PMID:25741868 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:10766980|PMID:23819449|PMID:25741868|PMID:26619011|PMID:26822237|PMID:26942290|PMID:27626068 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22286583|PMID:27794399 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:23806793|REF_RGD_ID:25330355 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:403 mouth disease treatment ISO RGD:620713 D RGD:9068941 20200609 RGD PMID:14699553|REF_RGD_ID:10402103 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:4079 heart valve disease ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30008375 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:25900027|REF_RGD_ID:11352663 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:4621 holoprosencephaly ISO RGD:732290 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Lobar holoprosencephaly | ClinVar Annotator: match by term: Microform holoprosencephaly | ClinVar Annotator: match by term: Semilobar holoprosencephaly PMID:17154279|PMID:17530415|PMID:18034870|PMID:23812909|PMID:25741868|PMID:26931467|PMID:26942290|PMID:27363716 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:4783 mesangial proliferative glomerulonephritis ISO RGD:620713 D RGD:9068941 20200609 RGD mRNA:increased expression:mesangial cell PMID:10592054|REF_RGD_ID:10402100 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:4845 pilomyxoid astrocytoma ISO RGD:732290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pilomyxoid astrocytoma PMID:25705862|PMID:25741868|PMID:26619011|PMID:26942290|PMID:28492532|PMID:33448156 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:5015 fibrolamellar carcinoma ISO RGD:732290 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:24925055|REF_RGD_ID:11055933 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:5223 infertility ISO RGD:732290 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Infertility PMID:25741868 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:5327 retinal detachment ISO RGD:620713 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:layer of retina: PMID:10670490|REF_RGD_ID:10402077 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941188 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:5419 schizophrenia ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16861106 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:5844 myocardial infarction ISO RGD:732291 D RGD:9068941 20200609 RGD PMID:17439742|REF_RGD_ID:10402087 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:607 paraplegia ISO RGD:732290 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:630 genetic disease ISO RGD:732290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16882753|PMID:28492532 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:620713 D RGD:9068941 20200609 RGD PMID:19197140|REF_RGD_ID:2315911 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:674 cleft palate ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:25705862|PMID:26619011|PMID:26942290|PMID:33448156 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:21573021|REF_RGD_ID:25440476 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:769 neuroblastoma ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:10766980|PMID:23819449|PMID:25741868|PMID:26619011|PMID:26822237|PMID:26942290|PMID:27626068 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:8398 osteoarthritis ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:22393163|REF_RGD_ID:10402075 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:732291 D RGD:9068941 20200609 RGD PMID:18068632|REF_RGD_ID:2298702 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:8692 myeloid leukemia ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:19506298|REF_RGD_ID:11352666 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:8725 vascular dementia treatment ISO RGD:620713 D RGD:9068941 20200609 RGD PMID:22500404|REF_RGD_ID:10402076 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9000067 Congenital Foot Deformities ISO RGD:732290 D RGD:9068941 20200609 RGD associated with Kallmann Syndrome;DNA:missense mutations, nonsense mutation:exon:multiple PMID:25394172|REF_RGD_ID:11098154 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9000290 Stargardt Disease 3 ISO RGD:732291 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:optic cup: PMID:22199241|REF_RGD_ID:10402074 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9000955 Acute Otitis Media ISO RGD:732291 D RGD:9068941 20210611 RGD mRNA:decreased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732291 D RGD:9068941 20200609 RGD associated with prostate adenocarcinoma PMID:23576558|REF_RGD_ID:13504748 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9001036 Penetrating Head Injuries ISO RGD:620713 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:astrocyte,macrophage,neutrophil: PMID:11168551|REF_RGD_ID:10402049 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9001239 Delayed Puberty ISO RGD:732290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:12627230|PMID:16606836|PMID:17200176|PMID:25636053|PMID:25741868|PMID:28492532|PMID:32853167|PMID:33548149 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:620713 D RGD:9068941 20200609 RGD PMID:21543745|REF_RGD_ID:25440477 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9001871 Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant ISO RGD:732290 D RGD:9068941 20200609 RGD DNA:frameshift mutation, missense mutations: :multiple PMID:16882753|REF_RGD_ID:11567239 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9001871 Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant ISO RGD:732290 D RGD:9068941 20200609 RGD DNA:missense mutation, nonsense mutation:exon:p.S107X (320C>A), p.G687R (2059G>A) (human) PMID:15845591|REF_RGD_ID:11567240 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9001871 Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant ISO RGD:732290 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutations:exon:multiple PMID:16764984|REF_RGD_ID:11567241 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:620713 D RGD:9068941 20200609 RGD PMID:9183688|REF_RGD_ID:8655640 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:732291 D RGD:9068941 20200609 RGD PMID:22833219|REF_RGD_ID:10402072 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9002514 Neointima ISO RGD:620713 D RGD:9068941 20200609 RGD PMID:15072997|REF_RGD_ID:10402089 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features PMID:25705862|PMID:26619011|PMID:26942290|PMID:33448156 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9004210 Tympanic Membrane Perforation ISO RGD:620713 D RGD:9068941 20200609 RGD PMID:21590482|REF_RGD_ID:10402099 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9004332 Osteoarthritis, Experimental ISO RGD:732291 D RGD:9068941 20200609 RGD PMID:22833219|REF_RGD_ID:10402072 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9004441 Experimental Leukemia treatment ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:22781593|REF_RGD_ID:11352669 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9004955 Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate ISO RGD:732290 D RGD:7240710 20180130 OMIM 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9004955 Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hartsfield syndrome PMID:15605412|PMID:16757108|PMID:16764984|PMID:19504604|PMID:20536592|PMID:23657145|PMID:23812909|PMID:24204987|PMID:24888332|PMID:25064402|PMID:25326635|PMID:25741868|PMID:26931467|PMID:28492532|PMID:31474318 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21936542 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9006618 Liver Metastasis ISO RGD:732290 D RGD:9068941 20200609 RGD associated with colorectal cancer;mRNA:increased expression:colorectal mucosa: PMID:19082464|REF_RGD_ID:25330357 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9007261 Nonsyndromic Trigonocephaly ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trigonocephaly, nonsyndromic 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9007632 Encephalocraniocutaneous Lipomatosis ISO RGD:732290 D RGD:7240710 20190315 OMIM 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9007632 Encephalocraniocutaneous Lipomatosis ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis PMID:10766980|PMID:23819449|PMID:25705862|PMID:25741868|PMID:26619011|PMID:26822237|PMID:26942290|PMID:27626068|PMID:28492532|PMID:33448156 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9007730 Burns ISO RGD:620713 D RGD:9068941 20200609 RGD protein:increased expression:epidermis: PMID:9204964|REF_RGD_ID:10402083 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:10629055|PMID:12627230|PMID:15365636|PMID:15605412|PMID:16764984|PMID:17154279|PMID:17360555|PMID:17576681|PMID:17963255|PMID:18160472|PMID:18985070|PMID:19707180|PMID:20696889|PMID:22378383|PMID:23329143|PMID:23348397|PMID:23657145|PMID:24031091|PMID:25064402|PMID:25383892|PMID:25425165|PMID:25741868|PMID:25759380|PMID:26467025|PMID:26931467|PMID:27884173|PMID:28492532|PMID:9536098 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9008388 Trigonocephaly 1 ISO RGD:732290 D RGD:7240710 20180130 OMIM 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9008388 Trigonocephaly 1 ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trigonocephaly 1 PMID:10629055|PMID:11173846|PMID:12627230|PMID:14513299|PMID:15365636|PMID:15605412|PMID:15793702|PMID:16764984|PMID:17154279|PMID:17360555|PMID:17576681|PMID:17963255|PMID:18160472|PMID:18985070|PMID:19707180|PMID:20696889|PMID:22378383|PMID:23329143|PMID:23348397|PMID:23657145|PMID:24031091|PMID:25064402|PMID:25383892|PMID:25425165|PMID:25741868|PMID:25759380|PMID:26467025|PMID:26931467|PMID:27884173|PMID:28492532|PMID:9536098 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12514106 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732291 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.P250R (mouse) PMID:21538817|REF_RGD_ID:11251832 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9008763 Femoral Fractures ISO RGD:620713 D RGD:9068941 20200609 RGD PMID:11704499|REF_RGD_ID:11567258 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20179196|PMID:21936542 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:23777766|PMID:27005999|REF_RGD_ID:11352310|REF_RGD_ID:11352670 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:22683780|REF_RGD_ID:11352665 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9296 cleft lip ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9296 cleft lip ISO RGD:732290 D RGD:9068941 20200609 RGD DNA:SNP: :rs13317 (human) PMID:24613087|REF_RGD_ID:11567264 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732291 D RGD:9068941 20200609 RGD PMID:22174314|REF_RGD_ID:10401888 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9452 fatty liver disease severity ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:32195457|REF_RGD_ID:25330354 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9970 obesity ISO RGD:620713 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus: PMID:21430024|REF_RGD_ID:10402094 12303474 FGFR1 fibroblast growth factor receptor 1 gene DOID:9970 obesity ISO RGD:732290 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue: PMID:21430024|REF_RGD_ID:10402094 12303514 MUTYH mutY DNA glycosylase gene DOID:0050424 familial adenomatous polyposis ISO RGD:731074 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis PMID:11818965|PMID:12606733|PMID:12707038|PMID:12917422|PMID:14991577|PMID:15034862|PMID:15931596|PMID:15943555|PMID:15987719|PMID:16140997|PMID:16408224|PMID:16492921|PMID:16557584|PMID:16616356|PMID:16645203|PMID:16774938|PMID:16941501|PMID:17031395|PMID:17161978|PMID:17489848|PMID:17524638|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18271935|PMID:18506705|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19394335|PMID:19506731|PMID:19531215|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20191381|PMID:20418187|PMID:20618354|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22922830|PMID:22926731|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23561487|PMID:23605219|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24039736|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25741868|PMID:25820570|PMID:25937855|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29371908|PMID:29484706|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31422818|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697 12303514 MUTYH mutY DNA glycosylase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731074 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12303514 MUTYH mutY DNA glycosylase gene DOID:0060276 pontocerebellar hypoplasia type 7 ISO RGD:731074 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 7 PMID:18271935|PMID:25741868|PMID:28492532 12303514 MUTYH mutY DNA glycosylase gene DOID:0070271 Lynch syndrome 1 ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 PMID:11818965|PMID:12606733|PMID:12917422|PMID:15931596|PMID:15987719|PMID:16492921|PMID:16557584|PMID:17489848|PMID:17956577|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19394335|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697 12303514 MUTYH mutY DNA glycosylase gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:731074 D RGD:7240710 20180130 OMIM 12303514 MUTYH mutY DNA glycosylase gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:731074 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis PMID:10612827|PMID:11092888|PMID:11295288|PMID:11433026|PMID:11801590|PMID:11805113|PMID:11818965|PMID:11864576|PMID:12056405|PMID:12393807|PMID:12606733|PMID:12707038|PMID:12853198|PMID:14579148|PMID:14618256|PMID:14633673|PMID:14991577|PMID:14999774|PMID:15034862|PMID:15180946|PMID:15188161|PMID:15236166|PMID:15273732|PMID:15326180|PMID:15366000|PMID:15465463|PMID:15635083|PMID:15673720|PMID:15690400|PMID:15761860|PMID:15890374|PMID:15931596|PMID:15943555|PMID:15987719|PMID:16042573|PMID:16134146|PMID:16134147|PMID:16140997|PMID:16199547|PMID:16207212|PMID:16234049|PMID:16287072|PMID:16338133|PMID:16408224|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16616356|PMID:16645203|PMID:16774938|PMID:16890597|PMID:16929514|PMID:16941501|PMID:16996809|PMID:17031395|PMID:17081686|PMID:17122612|PMID:17161978|PMID:17207658|PMID:17219385|PMID:17252231|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17524638|PMID:17576681|PMID:17581577|PMID:17674103|PMID:17703316|PMID:17874208|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18172263|PMID:18271935|PMID:18294051|PMID:18301448|PMID:18414213|PMID:18422726|PMID:18433509|PMID:18495334|PMID:18506705|PMID:18515411|PMID:18534194|PMID:18564191|PMID:18776649|PMID:18787472|PMID:18811933|PMID:18992148|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19300419|PMID:19394335|PMID:19414147|PMID:19443904|PMID:19479711|PMID:19506731|PMID:19527492|PMID:19531215|PMID:19620482|PMID:19725997|PMID:19732775|PMID:19793053|PMID:19806110|PMID:19836313|PMID:19841264|PMID:19953527|PMID:19998059|PMID:20110747|PMID:20191381|PMID:20223003|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20628285|PMID:20663686|PMID:20687945|PMID:20725929|PMID:20816984|PMID:2084865|PMID:20848659|PMID:21061173|PMID:21063410|PMID:21078199|PMID:21153778|PMID:21167187|PMID:21171015|PMID:21178863|PMID:21195604|PMID:21235684|PMID:21287799|PMID:21443744|PMID:21520333|PMID:21777424|PMID:21815886|PMID:21952991|PMID:21962078|PMID:22158503|PMID:22252118|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22538434|PMID:22641385|PMID:22703879|PMID:22722201|PMID:22744763|PMID:22773231|PMID:22865608|PMID:22922830|PMID:22926731|PMID:22976915|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23383274|PMID:23460355|PMID:23507534|PMID:23561487|PMID:23605219|PMID:23621914|PMID:23625202|PMID:23677194|PMID:23729658|PMID:23805267|PMID:23820649|PMID:24033266|PMID:24039736|PMID:24082139|PMID:24278394|PMID:24377541|PMID:24444654|PMID:24470512|PMID:24556621|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24799981|PMID:24834277|PMID:24953332|PMID:25151137|PMID:25186627|PMID:25197429|PMID:25307848|PMID:25318351|PMID:25326637|PMID:25368107|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25590978|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25820570|PMID:25856671|PMID:25892863|PMID:25927356|PMID:25937855|PMID:25938944|PMID:25957691|PMID:25980754|PMID:26138249|PMID:26202870|PMID:26296696|PMID:26300997|PMID:26332594|PMID:26377631|PMID:26414517|PMID:26436112|PMID:26446593|PMID:26467025|PMID:26511139|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26600934|PMID:26615199|PMID:26632267|PMID:26673696|PMID:26681312|PMID:26684149|PMID:26684191|PMID:26689913|PMID:26694661|PMID:26822237|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26900293|PMID:26902849|PMID:26944241|PMID:26947005|PMID:26976419|PMID:27014339|PMID:27077130|PMID:27145315|PMID:27153395|PMID:27194394|PMID:27276934|PMID:27377421|PMID:27443514|PMID:27600092|PMID:27631816|PMID:27696107|PMID:27705013|PMID:27732944|PMID:27797849|PMID:27799157|PMID:27829682|PMID:27870730|PMID:27978560|PMID:28087410|PMID:28127763|PMID:28135048|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28199314|PMID:28202063|PMID:28243543|PMID:28251689|PMID:28332257|PMID:28349240|PMID:28445943|PMID:28492532|PMID:28495237|PMID:28502729|PMID:28503720|PMID:28526081|PMID:28533537|PMID:28577310|PMID:28634180|PMID:28644590 12303514 MUTYH mutY DNA glycosylase gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:731074 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis PMID:28687356|PMID:28709830|PMID:28717660|PMID:28726808|PMID:28861346|PMID:28873161|PMID:28873162|PMID:28944238|PMID:28961279|PMID:29093764|PMID:29330641|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29406563|PMID:29431110|PMID:29458332|PMID:29478780|PMID:29484706|PMID:29506128|PMID:29557500|PMID:29641532|PMID:29667044|PMID:29684080|PMID:29700634|PMID:29754767|PMID:29766397|PMID:29879026|PMID:29915346|PMID:29967336|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30151275|PMID:30256826|PMID:30267214|PMID:30291343|PMID:30306255|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30487145|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30675318|PMID:30676620|PMID:30719162|PMID:30833417|PMID:30836094|PMID:30850667|PMID:30877237|PMID:30886832|PMID:30927264|PMID:30953464|PMID:30982232|PMID:31062380|PMID:31090900|PMID:31104418|PMID:31159747|PMID:31203172|PMID:31214250|PMID:31220976|PMID:31263571|PMID:31273614|PMID:31277343|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31447099|PMID:31575519|PMID:31589614|PMID:31666926|PMID:31739127|PMID:31742824|PMID:31921681|PMID:31980526|PMID:32088803|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32390703|PMID:32615015|PMID:32658311|PMID:32665031|PMID:32782288|PMID:32821650|PMID:32830346|PMID:32904697|PMID:32973888|PMID:33011440|PMID:33024574|PMID:33094510|PMID:33130102|PMID:33134171|PMID:33193653|PMID:33194656|PMID:33258288|PMID:33309985|PMID:33332384|PMID:33343895|PMID:33383211|PMID:33384714|PMID:33442023|PMID:33471991|PMID:33504652|PMID:33553733|PMID:33878367|PMID:34285288|PMID:9536098|PMID:9846876 12303514 MUTYH mutY DNA glycosylase gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:10612827|PMID:11092888|PMID:11295288|PMID:11433026|PMID:11801590|PMID:11805113|PMID:11818965|PMID:11864576|PMID:12056405|PMID:12393807|PMID:12606733|PMID:12707038|PMID:12853198|PMID:12917422|PMID:14579148|PMID:14618256|PMID:14633673|PMID:14991577|PMID:14999774|PMID:15034862|PMID:15180946|PMID:15188161|PMID:15236166|PMID:15273732|PMID:15326180|PMID:15366000|PMID:15465463|PMID:15635083|PMID:15673720|PMID:15690400|PMID:15761860|PMID:15890374|PMID:15931596|PMID:15943555|PMID:15987719|PMID:16042573|PMID:16134146|PMID:16134147|PMID:16140997|PMID:16199547|PMID:16207212|PMID:16234049|PMID:16287072|PMID:16338133|PMID:16408224|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16616356|PMID:16645203|PMID:16774938|PMID:16890597|PMID:16929514|PMID:16941501|PMID:16996809|PMID:17031395|PMID:17081686|PMID:17122612|PMID:17161978|PMID:17207658|PMID:17219385|PMID:17252231|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17524638|PMID:17576681|PMID:17581577|PMID:17674103|PMID:17703316|PMID:17874208|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18172263|PMID:18271935|PMID:18294051|PMID:18301448|PMID:18414213|PMID:18422726|PMID:18433509|PMID:18495334|PMID:18506705|PMID:18515411|PMID:18534194|PMID:18564191|PMID:18776649|PMID:18811933|PMID:18992148|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19300419|PMID:19394335|PMID:19414147|PMID:19443904|PMID:19479711|PMID:19506731|PMID:19527492|PMID:19531215|PMID:19620482|PMID:19725997|PMID:19732775|PMID:19793053|PMID:19806110|PMID:19836313|PMID:19841264|PMID:19953527|PMID:19998059|PMID:20110747|PMID:20149637|PMID:20191381|PMID:20223003|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20628285|PMID:20663686|PMID:20687945|PMID:20725929|PMID:20816984|PMID:2084865|PMID:20848659|PMID:21061173|PMID:21063410|PMID:21078199|PMID:21153778|PMID:21167187|PMID:21171015|PMID:21178863|PMID:21195604|PMID:21235684|PMID:21287799|PMID:21424714|PMID:21443744|PMID:21520333|PMID:21777424|PMID:21815886|PMID:21952991|PMID:21962078|PMID:22158503|PMID:22252118|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22538434|PMID:22641385|PMID:22703879|PMID:22722201|PMID:22744763|PMID:22773231|PMID:22865608|PMID:22922830|PMID:22926731|PMID:22976915|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23383274|PMID:23460355|PMID:23507534|PMID:23561487|PMID:23599153|PMID:23605219|PMID:23621914|PMID:23625202|PMID:23677194|PMID:23729658|PMID:23805267|PMID:23820649|PMID:24033266|PMID:24039736|PMID:24082139|PMID:24278394|PMID:24377541|PMID:24444654|PMID:24470512|PMID:24556621|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24799981|PMID:24834277|PMID:24953332|PMID:25151137|PMID:25186627|PMID:25197429|PMID:25307848|PMID:25318351|PMID:25368107|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25590978|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25820570|PMID:25856671|PMID:25892863|PMID:25927356|PMID:25937855|PMID:25938944|PMID:25957691|PMID:25980754|PMID:25995449|PMID:26138249|PMID:26202870|PMID:26296696|PMID:26300997|PMID:26332594|PMID:26377631|PMID:26414517|PMID:26436112|PMID:26446593|PMID:26467025|PMID:26511139|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26600934|PMID:26615199|PMID:26632267|PMID:26673696|PMID:26681312|PMID:26684149|PMID:26684191|PMID:26689913|PMID:26694661|PMID:26822237|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26900293|PMID:26902849|PMID:26944241|PMID:26947005|PMID:26976419|PMID:27014339|PMID:27077130|PMID:27145315|PMID:27153395|PMID:27194394|PMID:27276934|PMID:27377421|PMID:27443514|PMID:27600092|PMID:27631816|PMID:27696107|PMID:27705013|PMID:27732944|PMID:27797849|PMID:27799157|PMID:27829682|PMID:27870730|PMID:27878467|PMID:27978560|PMID:28087410|PMID:28127763|PMID:28130451|PMID:28135048|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28199314|PMID:28202063|PMID:28243543|PMID:28251689|PMID:28332257|PMID:28349240|PMID:28445943|PMID:28492532|PMID:28495237|PMID:28502729|PMID:28503720 12303514 MUTYH mutY DNA glycosylase gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:731074 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:28526081|PMID:28533537|PMID:28551381|PMID:28577310|PMID:28608266|PMID:28634180|PMID:28644590|PMID:28687356|PMID:28709830|PMID:28717660|PMID:28726808|PMID:28790112|PMID:28861346|PMID:28873161|PMID:28873162|PMID:28944238|PMID:28961279|PMID:29093764|PMID:29192238|PMID:29212164|PMID:29330641|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29406563|PMID:29431110|PMID:29458332|PMID:29478780|PMID:29484706|PMID:29506128|PMID:29557500|PMID:29610499|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29684080|PMID:29700634|PMID:29754767|PMID:29766397|PMID:29785153|PMID:29879026|PMID:29915346|PMID:29967336|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30098577|PMID:30122538|PMID:30151275|PMID:30256826|PMID:30267214|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30357411|PMID:30374176|PMID:30487145|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30620386|PMID:30675318|PMID:30676620|PMID:30702970|PMID:30719162|PMID:30833417|PMID:30836094|PMID:30850667|PMID:30852976|PMID:30877237|PMID:30886832|PMID:30927264|PMID:30953464|PMID:30982232|PMID:31062380|PMID:31090900|PMID:31104418|PMID:31159747|PMID:31203172|PMID:31214250|PMID:31220976|PMID:31263571|PMID:31273614|PMID:31277343|PMID:31285513|PMID:31350202|PMID:31360874|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31512090|PMID:31575519|PMID:31589614|PMID:31618753|PMID:31666926|PMID:31687339|PMID:31739127|PMID:31742824|PMID:31780696|PMID:31829624|PMID:31867841|PMID:31921681|PMID:31942411|PMID:31970404|PMID:31980526|PMID:32029870|PMID:32068069|PMID:32072083|PMID:32088803|PMID:32133419|PMID:32231684|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32390558|PMID:32390703|PMID:32570879|PMID:32615015|PMID:32658311|PMID:32665031|PMID:32782288|PMID:32821650|PMID:32830346|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32904697|PMID:32973888|PMID:32980694|PMID:33011440|PMID:33024574|PMID:33087929|PMID:33094510|PMID:33130102|PMID:33134171|PMID:33193653|PMID:33194656|PMID:33258288|PMID:33309985|PMID:33313162|PMID:33332384|PMID:33343895|PMID:33383211|PMID:33384714|PMID:33414168|PMID:33436027|PMID:33442023|PMID:33471974|PMID:33471991|PMID:33504652|PMID:33553733|PMID:33606809|PMID:33785725|PMID:33878367|PMID:34034685|PMID:34259353|PMID:34271781|PMID:34285288|PMID:34308366|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34704405|PMID:34716202|PMID:34816434|PMID:34897210|PMID:34994648|PMID:35089076|PMID:35264596|PMID:35430768|PMID:35535697|PMID:35628513|PMID:35668106|PMID:35980532|PMID:36988593|PMID:9536098|PMID:9846876 12303514 MUTYH mutY DNA glycosylase gene DOID:0080412 familial adenomatous polyposis 4 ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 4 PMID:16134147|PMID:16287072|PMID:16455870|PMID:16557584|PMID:17081686|PMID:17949294|PMID:18534194|PMID:19279422|PMID:19394335|PMID:19732775|PMID:20618354|PMID:23108399|PMID:24444654|PMID:24569162|PMID:25741868|PMID:25820570|PMID:25980754|PMID:26446593|PMID:26467025|PMID:26556299|PMID:27829682|PMID:27870730|PMID:28152038|PMID:28492532|PMID:28551381|PMID:29406563|PMID:30604180|PMID:31942411|PMID:33130102 12303514 MUTYH mutY DNA glycosylase gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12303514 MUTYH mutY DNA glycosylase gene DOID:0111504 Li-Fraumeni syndrome 2 ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 2 PMID:11818965|PMID:12606733|PMID:12917422|PMID:15931596|PMID:15987719|PMID:16492921|PMID:16557584|PMID:17489848|PMID:17956577|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19394335|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697 12303514 MUTYH mutY DNA glycosylase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731074 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12303514 MUTYH mutY DNA glycosylase gene DOID:10534 stomach cancer ISO RGD:731074 D RGD:7240710 20220209 OMIM 12303514 MUTYH mutY DNA glycosylase gene DOID:10534 stomach cancer ISO RGD:731074 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:11092888|PMID:11433026|PMID:11805113|PMID:11818965|PMID:11864576|PMID:12606733|PMID:14618256|PMID:15180946|PMID:15273732|PMID:15890374|PMID:16134147|PMID:16140997|PMID:16338133|PMID:16492921|PMID:16557584|PMID:16616356|PMID:17161978|PMID:17219385|PMID:17489848|PMID:17703316|PMID:17949294|PMID:17956577|PMID:18271935|PMID:18414213|PMID:18422726|PMID:18506705|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19300419|PMID:19394335|PMID:19414147|PMID:19506731|PMID:19527492|PMID:19531215|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20191381|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20663686|PMID:20725929|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21520333|PMID:22266422|PMID:22402879|PMID:22473953|PMID:22641385|PMID:22703879|PMID:22744763|PMID:22865608|PMID:22926731|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23507534|PMID:23605219|PMID:24033266|PMID:24377541|PMID:24444654|PMID:24569162|PMID:24728327|PMID:24733792|PMID:24799981|PMID:25151137|PMID:25197429|PMID:25525159|PMID:25741868|PMID:25820570|PMID:25856671|PMID:25892863|PMID:25927356|PMID:25937855|PMID:25980754|PMID:26202870|PMID:26296696|PMID:26332594|PMID:26377631|PMID:26436112|PMID:26467025|PMID:26511139|PMID:26517685|PMID:26556299|PMID:26600934|PMID:26681312|PMID:26684149|PMID:26684191|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26902849|PMID:26976419|PMID:27077130|PMID:27145315|PMID:27153395|PMID:27443514|PMID:27631816|PMID:27797849|PMID:27829682|PMID:28127763|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28251689|PMID:28332257|PMID:28349240|PMID:28445943|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28526081|PMID:28533537|PMID:28709830|PMID:28873162|PMID:28944238|PMID:29093764|PMID:29330641|PMID:29406563|PMID:29431110|PMID:29506128|PMID:29557500|PMID:29915346|PMID:30067863|PMID:30093976|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30487145|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30676620|PMID:30833417|PMID:30877237|PMID:30886832|PMID:30953464|PMID:30982232|PMID:31104418|PMID:31159747|PMID:31203172|PMID:31263571|PMID:31447099|PMID:31575519|PMID:31589614|PMID:31739127|PMID:31921681|PMID:31980526|PMID:32088803|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32615015|PMID:32665031|PMID:32821650|PMID:32830346|PMID:32904697|PMID:33024574|PMID:33193653|PMID:33258288|PMID:33309985|PMID:33332384|PMID:33384714|PMID:33442023|PMID:33471974|PMID:33471991|PMID:33504652|PMID:34716202|PMID:34897210|PMID:36988593 12303514 MUTYH mutY DNA glycosylase gene DOID:1380 endometrial cancer ISO RGD:731074 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Endometrial cancer, somatic PMID:11818965|PMID:12606733|PMID:12917422|PMID:15931596|PMID:15987719|PMID:16492921|PMID:16557584|PMID:17489848|PMID:17956577|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19394335|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697 12303514 MUTYH mutY DNA glycosylase gene DOID:1520 colon carcinoma ISO RGD:731074 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:35535697|PMID:9536098 12303514 MUTYH mutY DNA glycosylase gene DOID:1520 colon carcinoma ISO RGD:731074 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:11295288|PMID:11818965|PMID:12393807|PMID:12606733|PMID:12853198|PMID:12917422|PMID:14579148|PMID:14991577|PMID:15180946|PMID:15188161|PMID:15236166|PMID:15366000|PMID:15635083|PMID:15690400|PMID:15890374|PMID:15931596|PMID:15943555|PMID:15987719|PMID:16134146|PMID:16134147|PMID:16140997|PMID:16199547|PMID:16287072|PMID:16338133|PMID:16408224|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16616356|PMID:16774938|PMID:16929514|PMID:16941501|PMID:17081686|PMID:17122612|PMID:17161978|PMID:17219385|PMID:17252231|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17524638|PMID:17576681|PMID:17581577|PMID:17703316|PMID:17874208|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18271935|PMID:18414213|PMID:18422726|PMID:18495334|PMID:18506705|PMID:18515411|PMID:18534194|PMID:18564191|PMID:18811933|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19300419|PMID:19394335|PMID:19414147|PMID:19479711|PMID:19527492|PMID:19531215|PMID:19620482|PMID:19725997|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20110747|PMID:20191381|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20663686|PMID:20687945|PMID:20725929|PMID:20848659|PMID:21063410|PMID:21167187|PMID:21171015|PMID:21178863|PMID:21195604|PMID:21287799|PMID:21443744|PMID:21520333|PMID:21777424|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22641385|PMID:22703879|PMID:22722201|PMID:22744763|PMID:22773231|PMID:22865608|PMID:22922830|PMID:22926731|PMID:22976915|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23383274|PMID:23561487|PMID:23605219|PMID:23625202|PMID:23805267|PMID:23820649|PMID:24033266|PMID:24039736|PMID:24082139|PMID:24278394|PMID:24377541|PMID:24444654|PMID:24470512|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24733792|PMID:24799981|PMID:24834277|PMID:24953332|PMID:25151137|PMID:25186627|PMID:25197429|PMID:25307848|PMID:25326637|PMID:25503501|PMID:25525159|PMID:25569433|PMID:25590978|PMID:25741868|PMID:25820570|PMID:25856671|PMID:25927356|PMID:25937855|PMID:25980754|PMID:26202870|PMID:26296696|PMID:26300997|PMID:26332594|PMID:26377631|PMID:26436112|PMID:26446593|PMID:26467025|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26600934|PMID:26632267|PMID:26673696|PMID:26681312|PMID:26684149|PMID:26684191|PMID:26689913|PMID:26694661|PMID:26822237|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26900293|PMID:26902849|PMID:26947005|PMID:26976419|PMID:27014339|PMID:27077130|PMID:27145315|PMID:27153395|PMID:27194394|PMID:27443514|PMID:27600092|PMID:27631816|PMID:27705013|PMID:27797849|PMID:27829682|PMID:27870730|PMID:28087410|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28199314|PMID:28202063|PMID:28251689|PMID:28332257|PMID:28445943|PMID:28492532|PMID:28495237|PMID:28502729|PMID:28503720|PMID:28526081|PMID:28533537|PMID:28634180|PMID:28644590|PMID:28687356|PMID:28709830|PMID:28717660|PMID:28873161|PMID:28873162|PMID:28944238|PMID:29093764|PMID:29330641|PMID:29368341|PMID:29406563|PMID:29431110|PMID:29506128|PMID:29557500|PMID:29667044|PMID:29700634|PMID:29766397|PMID:29879026|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30151275|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30676620|PMID:30833417|PMID:30836094|PMID:30850667|PMID:30852976|PMID:30877237|PMID:30886832|PMID:30953464|PMID:30982232|PMID:31159747|PMID:31203172|PMID:31214250|PMID:31263571|PMID:31285513|PMID:31422818|PMID:31447099|PMID:31575519|PMID:31589614|PMID:31739127|PMID:31921681|PMID:31980526|PMID:32088803|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32615015|PMID:32658311|PMID:32665031|PMID:32830346|PMID:32854451|PMID:32904697|PMID:32973888|PMID:33024574|PMID:33094510|PMID:33130102|PMID:33134171|PMID:33193653|PMID:33194656|PMID:33258288|PMID:33309985|PMID:33332384|PMID:33343895|PMID:33383211|PMID:33384714|PMID:33442023|PMID:33471991 12303514 MUTYH mutY DNA glycosylase gene DOID:1520 colon carcinoma ISO RGD:731074 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:33504652|PMID:35535697|PMID:9536098 12303514 MUTYH mutY DNA glycosylase gene DOID:1520 colon carcinoma ISO RGD:731074 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:11295288|PMID:11818965|PMID:12393807|PMID:12606733|PMID:12853198|PMID:12917422|PMID:14579148|PMID:14991577|PMID:15180946|PMID:15188161|PMID:15236166|PMID:15366000|PMID:15635083|PMID:15690400|PMID:15890374|PMID:15931596|PMID:15943555|PMID:15987719|PMID:16134146|PMID:16134147|PMID:16140997|PMID:16199547|PMID:16287072|PMID:16338133|PMID:16408224|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16616356|PMID:16774938|PMID:16929514|PMID:16941501|PMID:17081686|PMID:17122612|PMID:17161978|PMID:17219385|PMID:17252231|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17524638|PMID:17576681|PMID:17581577|PMID:17703316|PMID:17874208|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18271935|PMID:18414213|PMID:18422726|PMID:18495334|PMID:18506705|PMID:18515411|PMID:18534194|PMID:18564191|PMID:18811933|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19300419|PMID:19394335|PMID:19414147|PMID:19479711|PMID:19527492|PMID:19531215|PMID:19620482|PMID:19725997|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20110747|PMID:20191381|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20663686|PMID:20687945|PMID:20725929|PMID:20816984|PMID:20848659|PMID:21063410|PMID:21167187|PMID:21171015|PMID:21178863|PMID:21195604|PMID:21287799|PMID:21443744|PMID:21520333|PMID:21777424|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22641385|PMID:22703879|PMID:22722201|PMID:22744763|PMID:22773231|PMID:22865608|PMID:22922830|PMID:22926731|PMID:22976915|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23383274|PMID:23561487|PMID:23599153|PMID:23605219|PMID:23625202|PMID:23805267|PMID:23820649|PMID:24033266|PMID:24039736|PMID:24082139|PMID:24278394|PMID:24377541|PMID:24444654|PMID:24470512|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24733792|PMID:24799981|PMID:24834277|PMID:24953332|PMID:25151137|PMID:25186627|PMID:25197429|PMID:25307848|PMID:25503501|PMID:25525159|PMID:25569433|PMID:25590978|PMID:25741868|PMID:25820570|PMID:25856671|PMID:25927356|PMID:25937855|PMID:25980754|PMID:26202870|PMID:26296696|PMID:26300997|PMID:26332594|PMID:26377631|PMID:26436112|PMID:26446593|PMID:26467025|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26600934|PMID:26632267|PMID:26673696|PMID:26681312|PMID:26684149|PMID:26684191|PMID:26689913|PMID:26694661|PMID:26822237|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26900293|PMID:26902849|PMID:26947005|PMID:26976419|PMID:27014339|PMID:27077130|PMID:27145315|PMID:27153395|PMID:27194394|PMID:27443514|PMID:27600092|PMID:27631816|PMID:27705013|PMID:27797849|PMID:27829682|PMID:27870730|PMID:28087410|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28199314|PMID:28202063|PMID:28251689|PMID:28332257|PMID:28445943|PMID:28492532|PMID:28495237|PMID:28502729|PMID:28503720|PMID:28526081|PMID:28533537|PMID:28551381|PMID:28634180|PMID:28644590|PMID:28687356|PMID:28709830|PMID:28717660|PMID:28873161|PMID:28873162|PMID:28944238|PMID:29093764|PMID:29330641|PMID:29368341|PMID:29406563|PMID:29431110|PMID:29506128|PMID:29557500|PMID:29667044|PMID:29700634|PMID:29766397|PMID:29879026|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30151275|PMID:30256826|PMID:30267214|PMID:30291343|PMID:30306255|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30676620|PMID:30833417|PMID:30836094|PMID:30850667|PMID:30852976|PMID:30877237|PMID:30886832|PMID:30953464|PMID:30982232|PMID:31159747|PMID:31203172|PMID:31214250|PMID:31263571|PMID:31285513|PMID:31422818|PMID:31447099|PMID:31575519|PMID:31589614|PMID:31739127|PMID:31829624|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32088803|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32615015|PMID:32658311|PMID:32665031|PMID:32830346|PMID:32854451|PMID:32904697|PMID:32973888|PMID:33024574|PMID:33094510|PMID:33130102|PMID:33134171|PMID:33193653|PMID:33194656|PMID:33258288|PMID:33309985|PMID:33332384 12303514 MUTYH mutY DNA glycosylase gene DOID:1520 colon carcinoma ISO RGD:731074 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:33343895|PMID:33383211|PMID:33384714|PMID:33442023|PMID:33471991|PMID:33504652|PMID:34716202|PMID:34897210|PMID:35535697|PMID:35668106|PMID:9536098 12303514 MUTYH mutY DNA glycosylase gene DOID:1520 colon carcinoma ISO RGD:731074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:11295288|PMID:11818965|PMID:12393807|PMID:12606733|PMID:12853198|PMID:12917422|PMID:14579148|PMID:14991577|PMID:15180946|PMID:15188161|PMID:15236166|PMID:15366000|PMID:15635083|PMID:15690400|PMID:15890374|PMID:15931596|PMID:15943555|PMID:15987719|PMID:16134146|PMID:16134147|PMID:16140997|PMID:16287072|PMID:16338133|PMID:16408224|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16616356|PMID:16774938|PMID:16929514|PMID:16941501|PMID:17081686|PMID:17122612|PMID:17161978|PMID:17219385|PMID:17252231|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17524638|PMID:17576681|PMID:17581577|PMID:17703316|PMID:17874208|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18172263|PMID:18271935|PMID:18414213|PMID:18422726|PMID:18495334|PMID:18506705|PMID:18515411|PMID:18534194|PMID:18564191|PMID:18811933|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19300419|PMID:19394335|PMID:19414147|PMID:19479711|PMID:19527492|PMID:19531215|PMID:19620482|PMID:19725997|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20110747|PMID:20191381|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20663686|PMID:20687945|PMID:20725929|PMID:20816984|PMID:20848659|PMID:21063410|PMID:21167187|PMID:21171015|PMID:21178863|PMID:21195604|PMID:21287799|PMID:21443744|PMID:21520333|PMID:21777424|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22641385|PMID:22703879|PMID:22722201|PMID:22744763|PMID:22773231|PMID:22865608|PMID:22922830|PMID:22926731|PMID:22976915|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23383274|PMID:23561487|PMID:23599153|PMID:23605219|PMID:23625202|PMID:23805267|PMID:23820649|PMID:24033266|PMID:24039736|PMID:24082139|PMID:24278394|PMID:24377541|PMID:24444654|PMID:24470512|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24733792|PMID:24799981|PMID:24834277|PMID:24953332|PMID:25151137|PMID:25186627|PMID:25197429|PMID:25307848|PMID:25503501|PMID:25525159|PMID:25569433|PMID:25590978|PMID:25741868|PMID:25820570|PMID:25856671|PMID:25927356|PMID:25937855|PMID:25980754|PMID:26202870|PMID:26296696|PMID:26300997|PMID:26332594|PMID:26377631|PMID:26436112|PMID:26446593|PMID:26467025|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26600934|PMID:26632267|PMID:26673696|PMID:26681312|PMID:26684149|PMID:26684191|PMID:26689913|PMID:26694661|PMID:26822237|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26900293|PMID:26902849|PMID:26947005|PMID:26976419|PMID:27014339|PMID:27077130|PMID:27145315|PMID:27153395|PMID:27194394|PMID:27443514|PMID:27600092|PMID:27631816|PMID:27705013|PMID:27797849|PMID:27829682|PMID:27870730|PMID:28087410|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28199314|PMID:28202063|PMID:28251689|PMID:28332257|PMID:28445943|PMID:28492532|PMID:28495237|PMID:28502729|PMID:28503720|PMID:28526081|PMID:28533537|PMID:28551381|PMID:28577310|PMID:28634180|PMID:28644590|PMID:28687356|PMID:28709830|PMID:28717660|PMID:28873161|PMID:28873162|PMID:28944238|PMID:29093764|PMID:29330641|PMID:29368341|PMID:29371908|PMID:29406563|PMID:29431110|PMID:29506128|PMID:29557500|PMID:29667044|PMID:29700634|PMID:29766397|PMID:29785153|PMID:29879026|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30151275|PMID:30256826|PMID:30267214|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30836094|PMID:30850667|PMID:30852976|PMID:30877237|PMID:30886832|PMID:30953464|PMID:30982232|PMID:31159747|PMID:31203172|PMID:31214250|PMID:31263571|PMID:31285513|PMID:31422818|PMID:31447099|PMID:31512090|PMID:31575519|PMID:31589614|PMID:31618753|PMID:31739127|PMID:31829624|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32570879|PMID:32615015|PMID:32658311|PMID:32665031|PMID:32830346|PMID:32854451|PMID:32904697 12303514 MUTYH mutY DNA glycosylase gene DOID:1520 colon carcinoma ISO RGD:731074 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:32973888|PMID:33024574|PMID:33087929|PMID:33094510|PMID:33130102|PMID:33134171|PMID:33193653|PMID:33194656|PMID:33258288|PMID:33309985|PMID:33332384|PMID:33343895|PMID:33383211|PMID:33384714|PMID:33442023|PMID:33471991|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:34716202|PMID:34897210|PMID:35089076|PMID:35264596|PMID:35430768|PMID:35535697|PMID:35628513|PMID:35668106|PMID:35980532|PMID:36988593|PMID:9536098 12303514 MUTYH mutY DNA glycosylase gene DOID:1612 breast cancer ISO RGD:731074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:16557584|PMID:21195604|PMID:25741868|PMID:26467025|PMID:26900293|PMID:28492532 12303514 MUTYH mutY DNA glycosylase gene DOID:219 colon cancer ISO RGD:731074 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colon cancer | ClinVar Annotator: match by term: Malignant tumor of colon PMID:11818965|PMID:12606733|PMID:12853198|PMID:12917422|PMID:15931596|PMID:15987719|PMID:16492921|PMID:16557584|PMID:16616356|PMID:17489848|PMID:17576681|PMID:17956577|PMID:18495334|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19394335|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22773231|PMID:22865608|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28873162|PMID:28944238|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697|PMID:9536098 12303514 MUTYH mutY DNA glycosylase gene DOID:2394 ovarian cancer ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:15236166|PMID:16042573|PMID:16890597|PMID:18091433|PMID:18301448|PMID:19279422|PMID:20618354|PMID:20848659|PMID:21195604|PMID:23322991|PMID:25741868|PMID:25820570|PMID:28492532|PMID:34704405 12303514 MUTYH mutY DNA glycosylase gene DOID:2871 endometrial carcinoma ISO RGD:731074 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:11818965|PMID:12606733|PMID:16140997|PMID:16338133|PMID:16492921|PMID:16557584|PMID:16616356|PMID:17489848|PMID:17956577|PMID:18414213|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19300419|PMID:19394335|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20571908|PMID:20725929|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:22266422|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23605219|PMID:24033266|PMID:24444654|PMID:24569162|PMID:24728327|PMID:24733792|PMID:25741868|PMID:25820570|PMID:25980754|PMID:26202870|PMID:26467025|PMID:26517685|PMID:26556299|PMID:26681312|PMID:26845104|PMID:27153395|PMID:27631816|PMID:27797849|PMID:27829682|PMID:28492532|PMID:28503720|PMID:28709830|PMID:28944238|PMID:29506128|PMID:29557500|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30676620|PMID:30833417|PMID:30877237|PMID:30953464|PMID:31159747|PMID:31263571|PMID:31447099|PMID:31589614|PMID:31921681|PMID:31980526|PMID:32088803|PMID:32283892|PMID:32338768|PMID:32615015|PMID:32830346|PMID:33193653|PMID:33258288|PMID:33332384|PMID:33384714|PMID:33442023|PMID:33504652 12303514 MUTYH mutY DNA glycosylase gene DOID:3459 breast carcinoma ISO RGD:731074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:11818965|PMID:12606733|PMID:15931596|PMID:15987719|PMID:16134147|PMID:16140997|PMID:16287072|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16941501|PMID:17081686|PMID:17219385|PMID:17489848|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19531215|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20663686|PMID:20725929|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22252118|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24569162|PMID:24728327|PMID:24953332|PMID:25525159|PMID:25741868|PMID:25820570|PMID:25980754|PMID:26202870|PMID:26332594|PMID:26377631|PMID:26446593|PMID:26467025|PMID:26556299|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27829682|PMID:27870730|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28634180|PMID:28944238|PMID:29406563|PMID:29766397|PMID:30604180 12303514 MUTYH mutY DNA glycosylase gene DOID:3459 breast carcinoma ISO RGD:731074 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:11818965|PMID:12606733|PMID:12917422|PMID:15931596|PMID:15987719|PMID:16134147|PMID:16140997|PMID:16287072|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16941501|PMID:17081686|PMID:17219385|PMID:17489848|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19531215|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20663686|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22252118|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24569162|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25525159|PMID:25741868|PMID:25820570|PMID:25980754|PMID:26202870|PMID:26332594|PMID:26377631|PMID:26446593|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28551381|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29371908|PMID:29406563|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31942411|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32658311|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33130102|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697|PMID:36988593 12303514 MUTYH mutY DNA glycosylase gene DOID:4001 ovarian carcinoma ISO RGD:731074 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:11818965|PMID:12606733|PMID:12917422|PMID:15931596|PMID:15987719|PMID:16492921|PMID:16557584|PMID:17489848|PMID:17956577|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19394335|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697 12303514 MUTYH mutY DNA glycosylase gene DOID:5374 pilomatrixoma ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Calcifying epithelioma of Malherbe | ClinVar Annotator: match by term: Pilomatrixoma PMID:11801590|PMID:11818965|PMID:12606733|PMID:12917422|PMID:15236166|PMID:15673720|PMID:15931596|PMID:15987719|PMID:16042573|PMID:16492921|PMID:16557584|PMID:16890597|PMID:17489848|PMID:17956577|PMID:18091433|PMID:18301448|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19531215|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20687945|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21195604|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24728327|PMID:24733792|PMID:24953332|PMID:25186627|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33471991|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:34704405|PMID:35535697 12303514 MUTYH mutY DNA glycosylase gene DOID:5517 stomach carcinoma ISO RGD:731074 D RGD:9068941 20200609 RGD PMID:15273732|REF_RGD_ID:1600201 12303514 MUTYH mutY DNA glycosylase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:731074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12303514 MUTYH mutY DNA glycosylase gene DOID:630 genetic disease ISO RGD:731074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12303514 MUTYH mutY DNA glycosylase gene DOID:687 hepatoblastoma ISO RGD:731074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 12303514 MUTYH mutY DNA glycosylase gene DOID:768 retinoblastoma ISO RGD:731074 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:25741868|PMID:26947005|PMID:28135145|PMID:28492532|PMID:30267214 12303514 MUTYH mutY DNA glycosylase gene DOID:9000217 Stomach Neoplasms ISO RGD:731074 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stomach Neoplasms PMID:11818965|PMID:12606733|PMID:12917422|PMID:15931596|PMID:15987719|PMID:16492921|PMID:16557584|PMID:17489848|PMID:17956577|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19394335|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697 12303514 MUTYH mutY DNA glycosylase gene DOID:9002199 Paragangliomas 1 ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Paragangliomas 1 PMID:11818965|PMID:12606733|PMID:16140997|PMID:16338133|PMID:16492921|PMID:16557584|PMID:16616356|PMID:17489848|PMID:17956577|PMID:18414213|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19300419|PMID:19394335|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20571908|PMID:20725929|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:22266422|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23605219|PMID:24033266|PMID:24444654|PMID:24569162|PMID:24728327|PMID:24733792|PMID:25741868|PMID:25820570|PMID:25980754|PMID:26202870|PMID:26467025|PMID:26517685|PMID:26556299|PMID:26681312|PMID:26845104|PMID:27153395|PMID:27631816|PMID:27797849|PMID:27829682|PMID:28492532|PMID:28503720|PMID:28709830|PMID:28944238|PMID:29506128|PMID:29557500|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30676620|PMID:30833417|PMID:30877237|PMID:30953464|PMID:31159747|PMID:31263571|PMID:31447099|PMID:31589614|PMID:31921681|PMID:31980526|PMID:32088803|PMID:32283892|PMID:32338768|PMID:32615015|PMID:32830346|PMID:33193653|PMID:33258288|PMID:33332384|PMID:33384714|PMID:33442023|PMID:33504652 12303514 MUTYH mutY DNA glycosylase gene DOID:9002928 Colonic Neoplasms ISO RGD:731074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:16890597|PMID:19394335|PMID:19732775|PMID:20618354|PMID:20628285|PMID:21520333|PMID:25741868|PMID:26446593|PMID:27829682|PMID:28492532 12303514 MUTYH mutY DNA glycosylase gene DOID:9005655 Paragangliomas 2 ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Paragangliomas 2 PMID:21153778|PMID:24033266|PMID:24728327|PMID:25186627|PMID:25741868|PMID:25820570|PMID:25980754|PMID:26467025|PMID:26689913|PMID:28492532|PMID:30122538|PMID:32868316|PMID:34816434 12303514 MUTYH mutY DNA glycosylase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10612827|PMID:10713439|PMID:11092888|PMID:11295288|PMID:11433026|PMID:11801590|PMID:11805113|PMID:11818965|PMID:11864576|PMID:12056405|PMID:12393807|PMID:12606733|PMID:12707038|PMID:12853198|PMID:12917422|PMID:14579148|PMID:14618256|PMID:14633673|PMID:14991577|PMID:15034862|PMID:15036665|PMID:15180946|PMID:15188161|PMID:15236166|PMID:15326180|PMID:15366000|PMID:15465463|PMID:15635083|PMID:15673720|PMID:15681617|PMID:15690400|PMID:15761860|PMID:15890374|PMID:15931596|PMID:15943555|PMID:15987719|PMID:16042573|PMID:16134146|PMID:16134147|PMID:16140997|PMID:16199547|PMID:16207212|PMID:16234049|PMID:16287072|PMID:16338133|PMID:16408224|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16616356|PMID:16645203|PMID:16774938|PMID:16890597|PMID:16929514|PMID:16941501|PMID:16996809|PMID:17031395|PMID:17081686|PMID:17122612|PMID:17161978|PMID:17207658|PMID:17219385|PMID:17252231|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17524638|PMID:17576681|PMID:17581577|PMID:17674103|PMID:17703316|PMID:17874208|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18172263|PMID:18271935|PMID:18294051|PMID:18301448|PMID:18414213|PMID:18422726|PMID:18433509|PMID:18495334|PMID:18506705|PMID:18515411|PMID:18534194|PMID:18564191|PMID:18811933|PMID:18992148|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19300419|PMID:19394335|PMID:19414147|PMID:19443904|PMID:19479711|PMID:19506731|PMID:19527492|PMID:19531215|PMID:19620482|PMID:19725997|PMID:19732775|PMID:19793053|PMID:19806110|PMID:19836313|PMID:19841264|PMID:19953527|PMID:19998059|PMID:20110747|PMID:20149637|PMID:20191381|PMID:20223003|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20628285|PMID:20663686|PMID:20687945|PMID:20725929|PMID:20816984|PMID:2084865|PMID:20848659|PMID:21061173|PMID:21063410|PMID:21078199|PMID:21153778|PMID:21167187|PMID:21171015|PMID:21178863|PMID:21195604|PMID:21235684|PMID:21287799|PMID:21424714|PMID:21443744|PMID:21520333|PMID:21777424|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22252118|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22538434|PMID:22641385|PMID:22703879|PMID:22722201|PMID:22744763|PMID:22773231|PMID:22865608|PMID:22922830|PMID:22926731|PMID:22976915|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23383274|PMID:23460355|PMID:23507534|PMID:23561487|PMID:23599153|PMID:23605219|PMID:23621914|PMID:23625202|PMID:23729658|PMID:23805267|PMID:23820649|PMID:24033266|PMID:24039736|PMID:24082139|PMID:24278394|PMID:24377541|PMID:24444654|PMID:24470512|PMID:24556621|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24799981|PMID:24834277|PMID:24953332|PMID:25151137|PMID:25186627|PMID:25197429|PMID:25307848|PMID:25318351|PMID:25368107|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25590978|PMID:25637381|PMID:25741868|PMID:25820570|PMID:25856671|PMID:25892863|PMID:25927356|PMID:25937855|PMID:25938944|PMID:25957691|PMID:25980754|PMID:25995449|PMID:26138249|PMID:26202870|PMID:26296696|PMID:26300997|PMID:26332594|PMID:26377631|PMID:26436112|PMID:26446593|PMID:26467025|PMID:26511139|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26600934|PMID:26615199|PMID:26632267|PMID:26673696|PMID:26681312|PMID:26684149|PMID:26684191|PMID:26689913|PMID:26694661|PMID:26822237|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26900293|PMID:26902849|PMID:26944241|PMID:26947005|PMID:26976419|PMID:27014339|PMID:27077130|PMID:27145315|PMID:27153395|PMID:27194394|PMID:27276934|PMID:27347161|PMID:27377421|PMID:27443514|PMID:27600092|PMID:27631816|PMID:27696107|PMID:27705013|PMID:27732944|PMID:27797849|PMID:27799157|PMID:27829682|PMID:27870730|PMID:27878467|PMID:27978560|PMID:28087410|PMID:28127763|PMID:28130451|PMID:28135048|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28199314|PMID:28202063|PMID:28243543|PMID:28251689|PMID:28332257|PMID:28349240|PMID:28445943|PMID:28492532|PMID:28495237|PMID:28502729|PMID:28503720|PMID:28526081|PMID:28533537|PMID:28551381 12303514 MUTYH mutY DNA glycosylase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731074 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28577310|PMID:28608266|PMID:28634180|PMID:28644590|PMID:28687356|PMID:28709830|PMID:28717660|PMID:28726808|PMID:28790112|PMID:28861346|PMID:28873161|PMID:28873162|PMID:28944238|PMID:28961279|PMID:29093764|PMID:29192238|PMID:29212164|PMID:29330641|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29406563|PMID:29431110|PMID:29458332|PMID:29478780|PMID:29484706|PMID:29506128|PMID:29557500|PMID:29610499|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29684080|PMID:29700634|PMID:29754767|PMID:29766397|PMID:29785153|PMID:29879026|PMID:29915346|PMID:29967336|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30098577|PMID:30122538|PMID:30151275|PMID:30151276|PMID:30256826|PMID:30267214|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30357411|PMID:30374176|PMID:30487145|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30620386|PMID:30675318|PMID:30676620|PMID:30702970|PMID:30719162|PMID:30833417|PMID:30836094|PMID:30850667|PMID:30852976|PMID:30877237|PMID:30886832|PMID:30927264|PMID:30953464|PMID:30982232|PMID:31062380|PMID:31090900|PMID:31104418|PMID:31159747|PMID:31203172|PMID:31214250|PMID:31220976|PMID:31263571|PMID:31273614|PMID:31277343|PMID:31285513|PMID:31350202|PMID:31360874|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31512090|PMID:31575519|PMID:31589614|PMID:31613886|PMID:31618753|PMID:31666926|PMID:31687339|PMID:31739127|PMID:31742824|PMID:31780696|PMID:31829624|PMID:31867841|PMID:31921681|PMID:31942411|PMID:31970404|PMID:31980526|PMID:32068069|PMID:32072083|PMID:32088803|PMID:32133419|PMID:32231684|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32390558|PMID:32390703|PMID:32570879|PMID:32615015|PMID:32658311|PMID:32665031|PMID:32782288|PMID:32821650|PMID:32830346|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32904697|PMID:32973888|PMID:32980694|PMID:33011440|PMID:33024574|PMID:33087929|PMID:33094510|PMID:33130102|PMID:33134171|PMID:33193653|PMID:33194656|PMID:33223521|PMID:33258288|PMID:33309985|PMID:33313162|PMID:33332384|PMID:33343895|PMID:33383211|PMID:33384714|PMID:33414168|PMID:33436027|PMID:33442023|PMID:33471974|PMID:33471991|PMID:33504652|PMID:33553733|PMID:33606809|PMID:33785725|PMID:33878367|PMID:34034685|PMID:34259353|PMID:34271781|PMID:34285288|PMID:34308366|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34704405|PMID:34716202|PMID:34816434|PMID:34897210|PMID:34994648|PMID:35089076|PMID:35264596|PMID:35430768|PMID:35535697|PMID:35628513|PMID:35668106|PMID:35980532|PMID:36988593|PMID:9536098|PMID:9846876 12303514 MUTYH mutY DNA glycosylase gene DOID:9008952 Breast Cancer, Familial ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16287072|PMID:18091433|PMID:19953527|PMID:20418187|PMID:22252118|PMID:24033266|PMID:25186627|PMID:25307848|PMID:25503501|PMID:25741868|PMID:25820570|PMID:27829682|PMID:28492532|PMID:32658311 12303514 MUTYH mutY DNA glycosylase gene DOID:9256 colorectal cancer ISO RGD:731074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:11818965|PMID:12393807|PMID:12606733|PMID:15635083|PMID:15890374|PMID:15931596|PMID:15987719|PMID:16140997|PMID:16492921|PMID:16557584|PMID:17219385|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17703316|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18506705|PMID:18534194|PMID:18564191|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19506731|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20663686|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22865608|PMID:22926731|PMID:22976915|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23507534|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24953332|PMID:25525159|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27705013|PMID:27829682|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28492532|PMID:28634180|PMID:28944238|PMID:29330641|PMID:29766397|PMID:29915346|PMID:30487145|PMID:30604180|PMID:31104418|PMID:31203172|PMID:31739127|PMID:32665031|PMID:32821650 12303514 MUTYH mutY DNA glycosylase gene DOID:9256 colorectal cancer ISO RGD:731074 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:11818965|PMID:12393807|PMID:12606733|PMID:15635083|PMID:15890374|PMID:15931596|PMID:15987719|PMID:16140997|PMID:16492921|PMID:16557584|PMID:17219385|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17703316|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18506705|PMID:18534194|PMID:18564191|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19506731|PMID:19531215|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20663686|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22865608|PMID:22926731|PMID:22976915|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23507534|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24953332|PMID:25525159|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27705013|PMID:27829682|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28492532|PMID:28634180|PMID:28687356|PMID:28944238|PMID:29330641|PMID:29766397|PMID:29915346|PMID:29978187|PMID:30067863|PMID:30306255|PMID:30322717|PMID:30333958|PMID:30487145|PMID:30604180|PMID:30609409|PMID:30676620|PMID:31104418|PMID:31203172|PMID:31263571|PMID:31739127|PMID:32665031|PMID:32821650 12303514 MUTYH mutY DNA glycosylase gene DOID:9256 colorectal cancer ISO RGD:731074 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer PMID:11818965|PMID:12393807|PMID:12606733|PMID:12917422|PMID:15635083|PMID:15890374|PMID:15931596|PMID:15987719|PMID:16140997|PMID:16492921|PMID:16557584|PMID:17219385|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17703316|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18506705|PMID:18534194|PMID:18564191|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19506731|PMID:19531215|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20663686|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22865608|PMID:22926731|PMID:22976915|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23507534|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24953332|PMID:25525159|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27705013|PMID:27829682|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28492532|PMID:28634180|PMID:28687356|PMID:28944238|PMID:29330641|PMID:29766397|PMID:29915346|PMID:29978187|PMID:30067863|PMID:30306255|PMID:30322717|PMID:30333958|PMID:30487145|PMID:30604180|PMID:30609409|PMID:30676620|PMID:31104418|PMID:31203172|PMID:31263571|PMID:31739127|PMID:32665031|PMID:32821650|PMID:35535697 12303514 MUTYH mutY DNA glycosylase gene DOID:9256 colorectal cancer ISO RGD:731074 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:11818965|PMID:12393807|PMID:12606733|PMID:12917422|PMID:15635083|PMID:15890374|PMID:15931596|PMID:15987719|PMID:16140997|PMID:16492921|PMID:16557584|PMID:17219385|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17703316|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18506705|PMID:18534194|PMID:18564191|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19506731|PMID:19531215|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20663686|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22865608|PMID:22926731|PMID:22976915|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23507534|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25525159|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27705013|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29330641|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29915346|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30487145|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31104418|PMID:31159747|PMID:31203172|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31739127|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32665031|PMID:32821650|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697|PMID:36988593 12303611 LSM2 LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:0050553 JMP syndrome ISO RGD:1350592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12303620 ETFDH electron transfer flavoprotein dehydrogenase gene DOID:0014667 disease of metabolism ISO RGD:1354191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17050691 12303620 ETFDH electron transfer flavoprotein dehydrogenase gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1354191 D RGD:7240710 20180130 OMIM 12303620 ETFDH electron transfer flavoprotein dehydrogenase gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1354191 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glutaric acidemia IIc | ClinVar Annotator: match by term: Glutaric acidemia iic, late-onset | ClinVar Annotator: match by term: Glutaric acidemia type 2C | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:12359134|PMID:12815589|PMID:15669683|PMID:16199547|PMID:16434667|PMID:16510302|PMID:17060596|PMID:17412732|PMID:17576681|PMID:17584774|PMID:17977044|PMID:18289905|PMID:19249206|PMID:19265687|PMID:19758981|PMID:20023066|PMID:20138856|PMID:20370797|PMID:21088898|PMID:21347544|PMID:21907580|PMID:22013910|PMID:22041377|PMID:22611163|PMID:22664151|PMID:23106979|PMID:23628458|PMID:23700290|PMID:23727839|PMID:23785301|PMID:24190796|PMID:24357026|PMID:24516753|PMID:24522293|PMID:25200064|PMID:25326637|PMID:25640679|PMID:25741868|PMID:25827849|PMID:25913573|PMID:26349199|PMID:26403312|PMID:26409463|PMID:27000805|PMID:27038534|PMID:27060313|PMID:27270537|PMID:27935074|PMID:28083701|PMID:28388738|PMID:28456887|PMID:28468868|PMID:28492532|PMID:28685490|PMID:28899466|PMID:28914566|PMID:28973083|PMID:29249369|PMID:29336361|PMID:29339009|PMID:29376578|PMID:29961769|PMID:29988809|PMID:30022752|PMID:30027710|PMID:30424791|PMID:30477628|PMID:30587156|PMID:30626930|PMID:30904546|PMID:3126856|PMID:31268564|PMID:31331668|PMID:31418342|PMID:31904027|PMID:31997039|PMID:32007756|PMID:32064983|PMID:32393189|PMID:32733732|PMID:32746448|PMID:32793418|PMID:32804429|PMID:32925727|PMID:33000234|PMID:33473335|PMID:33589341|PMID:33823724|PMID:34041209|PMID:34066864|PMID:34573316|PMID:34819910|PMID:35090233|PMID:35309592|PMID:7173260|PMID:7757062|PMID:9536098 12303620 ETFDH electron transfer flavoprotein dehydrogenase gene DOID:11372 megacolon ISO RGD:1354191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12303620 ETFDH electron transfer flavoprotein dehydrogenase gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1354191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 12303620 ETFDH electron transfer flavoprotein dehydrogenase gene DOID:12377 spinal muscular atrophy ISO RGD:1354191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy 12303620 ETFDH electron transfer flavoprotein dehydrogenase gene DOID:423 myopathy ISO RGD:1354191 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 12303620 ETFDH electron transfer flavoprotein dehydrogenase gene DOID:630 genetic disease ISO RGD:1354191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12359134|PMID:15669683|PMID:16434667|PMID:17412732|PMID:17576681|PMID:22611163|PMID:25741868|PMID:28492532|PMID:29339009|PMID:29376578|PMID:31331668|PMID:32925727|PMID:9536098 12303620 ETFDH electron transfer flavoprotein dehydrogenase gene DOID:9970 obesity ISO RGD:1354191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12303637 CD59 CD59 molecule gene DOID:0080199 colorectal carcinoma ISO RGD:2311 D RGD:9068941 20200609 RGD PMID:12909127|REF_RGD_ID:1600485 12303637 CD59 CD59 molecule gene DOID:0080199 colorectal carcinoma ISO RGD:736600 D RGD:9068941 20200609 RGD PMID:12909127|REF_RGD_ID:1600485 12303637 CD59 CD59 molecule gene DOID:0080998 acute necrotizing pancreatitis severity ISO RGD:2311 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas, acinar cell PMID:16425382|REF_RGD_ID:1600479 12303637 CD59 CD59 molecule gene DOID:1059 intellectual disability ISO RGD:736600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12303637 CD59 CD59 molecule gene DOID:1380 endometrial cancer ISO RGD:736600 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:10637067|REF_RGD_ID:2293548 12303637 CD59 CD59 molecule gene DOID:1407 anterior uveitis ISO RGD:2311 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:eye PMID:16751365|REF_RGD_ID:1600478 12303637 CD59 CD59 molecule gene DOID:2394 ovarian cancer ISO RGD:736600 D RGD:9068941 20200609 RGD PMID:15726105|PMID:19254481|REF_RGD_ID:2306066|REF_RGD_ID:2326189 12303637 CD59 CD59 molecule gene DOID:2527 nephrosis ISO RGD:2311 D RGD:9068941 20200609 RGD PMID:15843577|REF_RGD_ID:1600482 12303637 CD59 CD59 molecule gene DOID:2921 glomerulonephritis ISO RGD:2311 D RGD:9068941 20200609 RGD PMID:7523753|REF_RGD_ID:1600500 12303637 CD59 CD59 molecule gene DOID:3459 breast carcinoma disease_progression ISO RGD:736600 D RGD:9068941 20200609 RGD PMID:12898600|REF_RGD_ID:2326192 12303637 CD59 CD59 molecule gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:736600 D RGD:9068941 20220303 RGD protein:increased expression:blood (human) PMID:32663515|REF_RGD_ID:151660329 12303637 CD59 CD59 molecule gene DOID:557 kidney disease ISO RGD:736600 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31618666 12303637 CD59 CD59 molecule gene DOID:5844 myocardial infarction ISO RGD:2311 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium PMID:7515561|REF_RGD_ID:1600501 12303637 CD59 CD59 molecule gene DOID:630 genetic disease ISO RGD:736600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12303637 CD59 CD59 molecule gene DOID:8869 neuromyelitis optica severity ISO RGD:2311 D RGD:9068941 20200609 RGD PMID:28212662|REF_RGD_ID:13792592 12303637 CD59 CD59 molecule gene DOID:8947 diabetic retinopathy ISO RGD:2311 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:12453906|REF_RGD_ID:1600487 12303637 CD59 CD59 molecule gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:2311 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:12483994|REF_RGD_ID:1600486 12303637 CD59 CD59 molecule gene DOID:9001643 CD59 Deficiency ISO RGD:736600 D RGD:7240710 20180130 OMIM 12303637 CD59 CD59 molecule gene DOID:9001643 CD59 Deficiency ISO RGD:736600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy PMID:1382994|PMID:23149847|PMID:24382084|PMID:25741868 12303637 CD59 CD59 molecule gene DOID:9002457 Experimental Arthritis ISO RGD:2311 D RGD:9068941 20200609 RGD PMID:14519760|REF_RGD_ID:1600483 12303637 CD59 CD59 molecule gene DOID:9004001 Facial Nerve Injuries ISO RGD:2311 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:facial VII nucleus PMID:9846834|REF_RGD_ID:1600495 12303637 CD59 CD59 molecule gene DOID:9004009 Reperfusion Injury ISO RGD:2311 D RGD:9068941 20200609 RGD PMID:10530491|REF_RGD_ID:1600493 12303637 CD59 CD59 molecule gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:2311 D RGD:9068941 20200609 RGD protein:increased expression:Schwann cell (rat) PMID:10450801|REF_RGD_ID:1600494 12303637 CD59 CD59 molecule gene DOID:9007472 Skin Manifestations ISO RGD:736600 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31618666 12303661 LARP1B La ribonucleoprotein 1B gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1605666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:19177532|PMID:28492532 12303661 LARP1B La ribonucleoprotein 1B gene DOID:10283 prostate cancer ISO RGD:1605666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12303661 LARP1B La ribonucleoprotein 1B gene DOID:630 genetic disease ISO RGD:1605666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12303720 CD22 CD22 molecule gene DOID:0050745 diffuse large B-cell lymphoma treatment ISO RGD:1323159 D RGD:9068941 20220311 RGD PMID:25708834|REF_RGD_ID:151665133 12303720 CD22 CD22 molecule gene DOID:0110222 Brugada syndrome 5 ISO RGD:1323159 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12303720 CD22 CD22 molecule gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1323159 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12303720 CD22 CD22 molecule gene DOID:543 dystonia ISO RGD:1323159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12303720 CD22 CD22 molecule gene DOID:630 genetic disease ISO RGD:1323159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12303750 DNMT1 DNA methyltransferase 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532572 12303750 DNMT1 DNA methyltransferase 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1354178 D RGD:9068941 20200609 RGD DNA:missensemutations:cds: PMID:21532572|REF_RGD_ID:9588627 12303750 DNMT1 DNA methyltransferase 1 gene DOID:0050700 cardiomyopathy ISO RGD:1552151 D RGD:9068941 20210521 RGD protein:increased expression:heart (mouse) PMID:32051532|REF_RGD_ID:126925233 12303750 DNMT1 DNA methyltransferase 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1354178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 12303750 DNMT1 DNA methyltransferase 1 gene DOID:0050902 medulloblastoma ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19155313 12303750 DNMT1 DNA methyltransferase 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1354178 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:32431489 12303750 DNMT1 DNA methyltransferase 1 gene DOID:0050952 spastic ataxia ISO RGD:1354178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 12303750 DNMT1 DNA methyltransferase 1 gene DOID:0050968 autosomal dominant cerebellar ataxia, deafness and narcolepsy ISO RGD:1354178 D RGD:7240710 20180130 OMIM 12303750 DNMT1 DNA methyltransferase 1 gene DOID:0050968 autosomal dominant cerebellar ataxia, deafness and narcolepsy ISO RGD:1354178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy PMID:10210919|PMID:17576681|PMID:21532572|PMID:22328086|PMID:23365052|PMID:25326637|PMID:25678562|PMID:25741868|PMID:28334952|PMID:28492532|PMID:30165906|PMID:31984424|PMID:7898717|PMID:8747854|PMID:9536098 12303750 DNMT1 DNA methyltransferase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1354178 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12303750 DNMT1 DNA methyltransferase 1 gene DOID:0070158 hereditary sensory neuropathy type 1E ISO RGD:1354178 D RGD:7240710 20180130 OMIM 12303750 DNMT1 DNA methyltransferase 1 gene DOID:0070158 hereditary sensory neuropathy type 1E ISO RGD:1354178 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Dementia, Deafness, and Sensory Neuropathy | ClinVar Annotator: match by term: HSN IE | ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA PMID:10210919|PMID:16199547|PMID:17576681|PMID:21532572|PMID:23365052|PMID:23521649|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28492532|PMID:30165906|PMID:7898717|PMID:9536098 12303750 DNMT1 DNA methyltransferase 1 gene DOID:0070158 hereditary sensory neuropathy type 1E ISO RGD:1354178 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dementia, Deafness, and Sensory Neuropathy | ClinVar Annotator: match by term: HSN IE | ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA PMID:10210919|PMID:16199547|PMID:17576681|PMID:21532572|PMID:22328086|PMID:23365052|PMID:23521649|PMID:24727570|PMID:25326637|PMID:25678562|PMID:25741868|PMID:26467025|PMID:27884168|PMID:28334952|PMID:28492532|PMID:30165906|PMID:30342480|PMID:31049076|PMID:31984424|PMID:7898717|PMID:9536098 12303750 DNMT1 DNA methyltransferase 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:24038143|REF_RGD_ID:9588628 12303750 DNMT1 DNA methyltransferase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1354178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10210919|PMID:21532572|PMID:23365052|PMID:23521649|PMID:24727570|PMID:25326637|PMID:25678562|PMID:25741868|PMID:28334952|PMID:28492532|PMID:7898717 12303750 DNMT1 DNA methyltransferase 1 gene DOID:11054 urinary bladder cancer ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression PMID:14634451|REF_RGD_ID:2301220 12303750 DNMT1 DNA methyltransferase 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1354178 D RGD:9068941 20210521 RGD protein:increased expression:cardiac muscle tissue of interventricular septum (human) PMID:32051532|REF_RGD_ID:126925233 12303750 DNMT1 DNA methyltransferase 1 gene DOID:12361 Graves' disease treatment ISO RGD:1354178 D RGD:9068941 20200609 RGD DNA:polymorphism: :32204 G>A(human) PMID:23039890|REF_RGD_ID:9588624 12303750 DNMT1 DNA methyltransferase 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1354178 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia PMID:27884168|PMID:28492532 12303750 DNMT1 DNA methyltransferase 1 gene DOID:1307 dementia ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532572 12303750 DNMT1 DNA methyltransferase 1 gene DOID:1324 lung cancer disease_progression ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:24548441|REF_RGD_ID:9588658 12303750 DNMT1 DNA methyltransferase 1 gene DOID:1324 lung cancer disease_progression ISO RGD:1354178 D RGD:9068941 20211210 RGD protein:increased expression:lung (human) PMID:21496867|REF_RGD_ID:150530293 12303750 DNMT1 DNA methyltransferase 1 gene DOID:1682 congenital heart disease ISO RGD:620979 D RGD:9068941 20200609 RGD associated with Vitamin A Deficiency; mRNA:increased expression:heart: PMID:23333085|REF_RGD_ID:9588314 12303750 DNMT1 DNA methyltransferase 1 gene DOID:2030 anxiety disorder ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23791455 12303750 DNMT1 DNA methyltransferase 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:1552151 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:prostate gland: PMID:17178860|REF_RGD_ID:2289681 12303750 DNMT1 DNA methyltransferase 1 gene DOID:2841 asthma ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23423710 12303750 DNMT1 DNA methyltransferase 1 gene DOID:2841 asthma ISO RGD:1552151 D RGD:9068941 20200609 RGD DNA,mRNA:hypermethylation,decreased expression:promoter,respiratory tract: PMID:23196709|REF_RGD_ID:9588646 12303750 DNMT1 DNA methyltransferase 1 gene DOID:288 endometriosis of uterus ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression:ectopic endometrium: PMID:22572543|REF_RGD_ID:9588664 12303750 DNMT1 DNA methyltransferase 1 gene DOID:289 endometriosis ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:endometrium: PMID:21316665|REF_RGD_ID:9588653 12303750 DNMT1 DNA methyltransferase 1 gene DOID:299 adenocarcinoma ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17571247 12303750 DNMT1 DNA methyltransferase 1 gene DOID:305 carcinoma ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21458988 12303750 DNMT1 DNA methyltransferase 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:1552151 D RGD:9068941 20200609 RGD PMID:11726790|REF_RGD_ID:9588643 12303750 DNMT1 DNA methyltransferase 1 gene DOID:3565 meningioma ISO RGD:1354178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meningioma 12303750 DNMT1 DNA methyltransferase 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29844410 12303750 DNMT1 DNA methyltransferase 1 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19424621|REF_RGD_ID:9588974 12303750 DNMT1 DNA methyltransferase 1 gene DOID:3905 lung carcinoma disease_progression ISO RGD:620979 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:21163286|REF_RGD_ID:9588222 12303750 DNMT1 DNA methyltransferase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1354178 D RGD:9068941 20210430 RGD PMID:32211850|REF_RGD_ID:126848780 12303750 DNMT1 DNA methyltransferase 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1354178 D RGD:9068941 20210430 RGD PMID:32211850|REF_RGD_ID:126848780 12303750 DNMT1 DNA methyltransferase 1 gene DOID:417 autoimmune disease ISO RGD:1552151 D RGD:9068941 20200609 RGD PMID:23444399|REF_RGD_ID:9588650 12303750 DNMT1 DNA methyltransferase 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27292127 12303750 DNMT1 DNA methyltransferase 1 gene DOID:4531 mucoepidermoid carcinoma disease_progression ISO RGD:1354178 D RGD:9068941 20200609 RGD PMID:15999364|REF_RGD_ID:9588574 12303750 DNMT1 DNA methyltransferase 1 gene DOID:4926 bronchiolo-alveolar adenocarcinoma disease_progression ISO RGD:1354178 D RGD:9068941 20200609 RGD PMID:19484794|REF_RGD_ID:4140940 12303750 DNMT1 DNA methyltransferase 1 gene DOID:5082 liver cirrhosis ISO RGD:620979 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:24211420|REF_RGD_ID:9588224 12303750 DNMT1 DNA methyltransferase 1 gene DOID:535 sleep disorder ISO RGD:1354178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sleep disturbance PMID:25741868 12303750 DNMT1 DNA methyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA:increased expression:GABAergic interneuron PMID:17264840|REF_RGD_ID:9588642 12303750 DNMT1 DNA methyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1552151 D RGD:9068941 20200609 RGD PMID:22564440|REF_RGD_ID:9588973 12303750 DNMT1 DNA methyltransferase 1 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1354178 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: EMG Syndrome PMID:25741868|PMID:28492532|PMID:30165906 12303750 DNMT1 DNA methyltransferase 1 gene DOID:6000 congestive heart failure ISO RGD:620979 D RGD:9068941 20200609 RGD protein:increased expression:atrium: PMID:23573917|REF_RGD_ID:9588286 12303750 DNMT1 DNA methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1354178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:21532572|PMID:24727570|PMID:25678562|PMID:25741868|PMID:28492532|PMID:30165906|PMID:31049076|PMID:36394275|PMID:9536098 12303750 DNMT1 DNA methyltransferase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:620979 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:11844796|REF_RGD_ID:2289670 12303750 DNMT1 DNA methyltransferase 1 gene DOID:7148 rheumatoid arthritis severity ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell PMID:20937307|REF_RGD_ID:9588623 12303750 DNMT1 DNA methyltransferase 1 gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:1354178 D RGD:9068941 20200609 RGD PMID:11222358|REF_RGD_ID:9588667 12303750 DNMT1 DNA methyltransferase 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581815 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17571247|PMID:21458988 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9000998 Brain Injuries ISO RGD:620979 D RGD:9068941 20200609 RGD PMID:19429151|REF_RGD_ID:9588608 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:620979 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus: PMID:16380407|REF_RGD_ID:9588242 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:620979 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney: PMID:12869365|REF_RGD_ID:9588619 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:620979 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland: PMID:24717552|REF_RGD_ID:9590296 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581815 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1552151 D RGD:9068941 20200609 RGD PMID:20584988|REF_RGD_ID:9588671 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9002304 Prostatic Neoplasms treatment ISO RGD:1552151 D RGD:9068941 20200609 RGD PMID:24038143|REF_RGD_ID:9588628 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9002457 Experimental Arthritis ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194984 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9002488 Peritoneal Fibrosis ISO RGD:620979 D RGD:9068941 20200609 RGD protein:increased expression:peritoneum: PMID:25256793|REF_RGD_ID:9588609 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9002598 Spastic Paraparesis ISO RGD:1354178 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spastic paraparesis PMID:25741868 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:1354178 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2228611,rs759920 (human) PMID:23666104|REF_RGD_ID:9588645 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19723570 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:620979 D RGD:9068941 20200609 RGD PMID:19723570|REF_RGD_ID:9588972 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9003036 Oral Lichen Planus ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression:mouth mucosa: PMID:22236544|REF_RGD_ID:9589075 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression PMID:17196739|REF_RGD_ID:2301221 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1354178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9004078 Pancreatic Intraepithelial Neoplasia ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19424621|REF_RGD_ID:9588974 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:uterus: PMID:15721400|REF_RGD_ID:9588596 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9004538 Hearing Loss ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532572 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28544374 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9004866 Ataxia ISO RGD:1354178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia PMID:25741868|PMID:28492532 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9006302 Binge Drinking ISO RGD:1552151 D RGD:9068941 20200609 RGD protein:increased expression:nucleus accumbens: PMID:23423140|REF_RGD_ID:9588287 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:1552151 D RGD:9068941 20200609 RGD PMID:22905112|REF_RGD_ID:9588654 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9007702 Carcinogenesis disease_progression ISO RGD:620979 D RGD:9068941 20200609 RGD PMID:21163286|REF_RGD_ID:9588222 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:uterus: PMID:15721400|REF_RGD_ID:9588596 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9008443 Colorectal Neoplasms treatment ISO RGD:620979 D RGD:9068941 20200609 RGD PMID:23717604|REF_RGD_ID:9588299 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22520950|PMID:28544374 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA:decreased expression:T cell: PMID:21595664|REF_RGD_ID:9588656 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:1354178 D RGD:9068941 20200609 RGD PMID:18194272|REF_RGD_ID:9588670 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA:increased expression:CD34+ bone marrow cells PMID:11222358|REF_RGD_ID:9588667 12303750 DNMT1 DNA methyltransferase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:620979 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:21818837|REF_RGD_ID:7207079 12303750 DNMT1 DNA methyltransferase 1 gene DOID:986 alopecia areata ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell: PMID:21936853|REF_RGD_ID:9587460 12303750 Dnmt1 DNA methyltransferase 1 gene DOID:8456 choline deficiency disease ISO RGD:620979 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:17724018|REF_RGD_ID:9588267 12303797 WSB2 WD repeat and SOCS box containing 2 gene DOID:630 genetic disease ISO RGD:1346731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12303813 PARG poly(ADP-ribose) glycohydrolase gene DOID:11372 megacolon ISO RGD:1351666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12303813 PARG poly(ADP-ribose) glycohydrolase gene DOID:3454 brain infarction ISO RGD:620387 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:12834903|REF_RGD_ID:2316742 12303813 PARG poly(ADP-ribose) glycohydrolase gene DOID:5154 borna disease ISO RGD:620387 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:18057239|REF_RGD_ID:2316738 12303813 PARG poly(ADP-ribose) glycohydrolase gene DOID:5419 schizophrenia ISO RGD:1351666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12303813 PARG poly(ADP-ribose) glycohydrolase gene DOID:630 genetic disease ISO RGD:1351666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12303813 PARG poly(ADP-ribose) glycohydrolase gene DOID:9002170 Experimental Neoplasms ISO RGD:1351666 D RGD:9068941 20210312 CTD CTD Direct Evidence: therapeutic PMID:33044785 12303813 PARG poly(ADP-ribose) glycohydrolase gene DOID:9004994 Embryo Loss ISO RGD:1351666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15591342 12303813 PARG poly(ADP-ribose) glycohydrolase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1351666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:25628927|PMID:27003318 12303813 PARG poly(ADP-ribose) glycohydrolase gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:620387 D RGD:9068941 20200609 RGD PMID:15791006|REF_RGD_ID:13514040 12303813 PARG poly(ADP-ribose) glycohydrolase gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:733120 D RGD:9068941 20200609 RGD PMID:15791006|REF_RGD_ID:13514040 12303848 KIF20B kinesin family member 20B gene DOID:10907 microcephaly ISO RGD:1318299 D RGD:9068941 20220825 MouseDO OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 12303848 KIF20B kinesin family member 20B gene DOID:630 genetic disease ISO RGD:1318298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12303893 TANC1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 gene DOID:1059 intellectual disability ISO RGD:1604561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12303893 TANC1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 gene DOID:12849 autistic disorder ISO RGD:1604561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 12303893 TANC1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 gene DOID:630 genetic disease ISO RGD:1604561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12303930 GPR61 G protein-coupled receptor 61 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1320923 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12303930 GPR61 G protein-coupled receptor 61 gene DOID:12849 autistic disorder ISO RGD:1320923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12303930 GPR61 G protein-coupled receptor 61 gene DOID:630 genetic disease ISO RGD:1320923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12303954 B4GALT1 beta-1,4-galactosyltransferase 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1349315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12303954 B4GALT1 beta-1,4-galactosyltransferase 1 gene DOID:0070256 congenital disorder of glycosylation type IId ISO RGD:1349315 D RGD:7240710 20180130 OMIM 12303954 B4GALT1 beta-1,4-galactosyltransferase 1 gene DOID:0070256 congenital disorder of glycosylation type IId ISO RGD:1349315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2D PMID:11901181|PMID:25741868|PMID:28492532|PMID:30653653|PMID:32157688 12303954 B4GALT1 beta-1,4-galactosyltransferase 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1349315 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12303954 B4GALT1 beta-1,4-galactosyltransferase 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1349315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12303954 B4GALT1 beta-1,4-galactosyltransferase 1 gene DOID:0111669 hyaline fibromatosis syndrome ISO RGD:1349315 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyaline fibromatosis syndrome PMID:25741868|PMID:28492532 12303954 B4GALT1 beta-1,4-galactosyltransferase 1 gene DOID:28 endocrine system disease ISO RGD:10640 D RGD:9068941 20220825 MouseDO 12303954 B4GALT1 beta-1,4-galactosyltransferase 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:10640 D RGD:9068941 20220825 MouseDO OMIM:161950 | OMIM:616818 12303954 B4GALT1 beta-1,4-galactosyltransferase 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1349315 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 12303954 B4GALT1 beta-1,4-galactosyltransferase 1 gene DOID:5212 congenital disorder of glycosylation susceptibility ISO RGD:1349315 D RGD:9068941 20200609 RGD DNA:insertion: ;1031insC PMID:11901181|REF_RGD_ID:1599432 12303954 B4GALT1 beta-1,4-galactosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1349315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12303954 B4GALT1 beta-1,4-galactosyltransferase 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1349315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12303954 B4GALT1 beta-1,4-galactosyltransferase 1 gene DOID:9870 galactosemia ISO RGD:1349315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12303964 PPP1R16A protein phosphatase 1 regulatory subunit 16A gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1317459 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 12303964 PPP1R16A protein phosphatase 1 regulatory subunit 16A gene DOID:4621 holoprosencephaly ISO RGD:1317459 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12303964 PPP1R16A protein phosphatase 1 regulatory subunit 16A gene DOID:630 genetic disease ISO RGD:1317459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12303999 KIF19 kinesin family member 19 gene DOID:630 genetic disease ISO RGD:1603919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12303999 KIF19 kinesin family member 19 gene DOID:9008386 Hydrops Fetalis ISO RGD:1603919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 12304028 ENGASE endo-beta-N-acetylglucosaminidase gene DOID:630 genetic disease ISO RGD:1601977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12304028 ENGASE endo-beta-N-acetylglucosaminidase gene DOID:9212 pityriasis rubra pilaris ISO RGD:1601977 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 12304045 SLC6A20 solute carrier family 6 member 20 gene DOID:0112265 iminoglycinuria ISO RGD:1603308 D RGD:9068941 20230506 CTD CTD Direct Evidence: marker/mechanism PMID:21572414 12304045 SLC6A20 solute carrier family 6 member 20 gene DOID:1059 intellectual disability ISO RGD:1603308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12304045 SLC6A20 solute carrier family 6 member 20 gene DOID:630 genetic disease ISO RGD:1603308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12304045 SLC6A20 solute carrier family 6 member 20 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12304045 SLC6A20 solute carrier family 6 member 20 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1603308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12304045 SLC6A20 solute carrier family 6 member 20 gene DOID:9003566 Mesothelioma ISO RGD:1603308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659810 12304045 SLC6A20 solute carrier family 6 member 20 gene DOID:9008487 Glycinuria with or without Oxalate Urolithiasis ISO RGD:1603308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperglycinuria PMID:19033659|PMID:25741868|PMID:28492532 12304058 RIPOR2 RHO family interacting cell polarization regulator 2 gene DOID:0110465 autosomal recessive nonsyndromic deafness 104 ISO RGD:1315839 D RGD:7240710 20180130 OMIM 12304058 RIPOR2 RHO family interacting cell polarization regulator 2 gene DOID:0110465 autosomal recessive nonsyndromic deafness 104 ISO RGD:1315839 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 104 PMID:24033266|PMID:24958875|PMID:25741868|PMID:28492532 12304058 RIPOR2 RHO family interacting cell polarization regulator 2 gene DOID:0110551 autosomal dominant nonsyndromic deafness 21 ISO RGD:1315839 D RGD:7240710 20220406 OMIM 12304058 RIPOR2 RHO family interacting cell polarization regulator 2 gene DOID:0110551 autosomal dominant nonsyndromic deafness 21 ISO RGD:1315839 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 21 PMID:10764236|PMID:25741868|PMID:28492532|PMID:32631815 12304058 RIPOR2 RHO family interacting cell polarization regulator 2 gene DOID:630 genetic disease ISO RGD:1315839 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12304097 KCNJ3 potassium inwardly rectifying channel subfamily J member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:733789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12304097 KCNJ3 potassium inwardly rectifying channel subfamily J member 3 gene DOID:630 genetic disease ISO RGD:733789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12304110 NIPA1 NIPA magnesium transporter 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21187176|PMID:21844811|PMID:23044707|PMID:23495136|PMID:25255310|PMID:25741868|PMID:27569545 12304110 NIPA1 NIPA magnesium transporter 1 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1606742 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:31690835 12304110 NIPA1 NIPA magnesium transporter 1 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1606742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant PMID:28492532 12304110 NIPA1 NIPA magnesium transporter 1 gene DOID:0110811 hereditary spastic paraplegia 6 ISO RGD:1606742 D RGD:7240710 20180130 OMIM 12304110 NIPA1 NIPA magnesium transporter 1 gene DOID:0110811 hereditary spastic paraplegia 6 ISO RGD:1606742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 PMID:14508710|PMID:15643603|PMID:15711826|PMID:16267846|PMID:17092466|PMID:17166836|PMID:17268193|PMID:17928003|PMID:18191948|PMID:19091982|PMID:19620182|PMID:20816793|PMID:21419568|PMID:21599812|PMID:22302102|PMID:22378146|PMID:23032108|PMID:23850684|PMID:24075313|PMID:24128679|PMID:25341883|PMID:25689425|PMID:25741868|PMID:26467025|PMID:27084228|PMID:28492532|PMID:28832565|PMID:29934652|PMID:31104286|PMID:31630374|PMID:32500351|PMID:32581362|PMID:7825577 12304110 NIPA1 NIPA magnesium transporter 1 gene DOID:1059 intellectual disability ISO RGD:1606742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12304110 NIPA1 NIPA magnesium transporter 1 gene DOID:12849 autistic disorder ISO RGD:1606742 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 12304110 NIPA1 NIPA magnesium transporter 1 gene DOID:1932 Angelman syndrome ISO RGD:1606742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome 12304110 NIPA1 NIPA magnesium transporter 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1606742 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:15643603|PMID:15711826|PMID:16267846|PMID:17092466|PMID:17166836|PMID:18191948|PMID:19091982|PMID:19620182|PMID:20816793|PMID:21599812|PMID:22302102|PMID:24075313|PMID:24128679|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28832565|PMID:29934652|PMID:31104286|PMID:31630374|PMID:32500351|PMID:32581362 12304110 NIPA1 NIPA magnesium transporter 1 gene DOID:5419 schizophrenia ISO RGD:1606742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12304110 NIPA1 NIPA magnesium transporter 1 gene DOID:607 paraplegia ISO RGD:1606742 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:15643603|PMID:15711826|PMID:16267846|PMID:17092466|PMID:17166836|PMID:18191948|PMID:19091982|PMID:19620182|PMID:20816793|PMID:21599812|PMID:22302102|PMID:24075313|PMID:24128679|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28832565|PMID:29934652|PMID:31104286|PMID:31630374|PMID:32500351|PMID:32581362 12304110 NIPA1 NIPA magnesium transporter 1 gene DOID:630 genetic disease ISO RGD:1606742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 12304110 NIPA1 NIPA magnesium transporter 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 12304129 GLRA1 glycine receptor alpha 1 gene DOID:0060695 hyperekplexia ISO RGD:730939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperekplexia 12304129 GLRA1 glycine receptor alpha 1 gene DOID:0060696 hyperekplexia 1 ISO RGD:730939 D RGD:7240710 20180130 OMIM 12304129 GLRA1 glycine receptor alpha 1 gene DOID:0060696 hyperekplexia 1 ISO RGD:730939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperekplexia 1 PMID:10817489|PMID:11389164|PMID:11702206|PMID:11781706|PMID:11973623|PMID:12746425|PMID:1334371|PMID:15771552|PMID:16078201|PMID:16236274|PMID:16832093|PMID:17536053|PMID:18043720|PMID:19073849|PMID:20631190|PMID:22264702|PMID:24033266|PMID:24108130|PMID:25333069|PMID:25568133|PMID:25741868|PMID:26733802|PMID:28122427|PMID:28138086|PMID:28492532|PMID:28617419|PMID:28879899|PMID:28985719|PMID:7518444|PMID:7611730|PMID:7874121|PMID:7881416|PMID:7981700|PMID:8298642|PMID:8571969|PMID:8651283|PMID:8733061|PMID:9009272|PMID:9067762|PMID:9920650 12304129 GLRA1 glycine receptor alpha 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:730939 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12304129 GLRA1 glycine receptor alpha 1 gene DOID:13366 Stiff-Person syndrome ISO RGD:730939 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hyperekplexia PMID:10514101|PMID:10817489|PMID:11389164|PMID:11702206|PMID:12169101|PMID:12746425|PMID:1334371|PMID:15365143|PMID:15771552|PMID:16078201|PMID:16199547|PMID:16236274|PMID:16941485|PMID:17536053|PMID:17576681|PMID:19073849|PMID:19732286|PMID:20631190|PMID:22532536|PMID:24033266|PMID:24108130|PMID:25036534|PMID:25333069|PMID:25568133|PMID:25741868|PMID:26733802|PMID:28122427|PMID:28138086|PMID:28174298|PMID:28492532|PMID:28617419|PMID:28985719|PMID:30078784|PMID:30182260|PMID:30866851|PMID:32695065|PMID:7518444|PMID:7611730|PMID:7881416|PMID:7981700|PMID:8298642|PMID:8733061|PMID:9009272|PMID:9536098 12304129 GLRA1 glycine receptor alpha 1 gene DOID:543 dystonia ISO RGD:730939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17114051 12304129 GLRA1 glycine receptor alpha 1 gene DOID:630 genetic disease ISO RGD:730939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20631190|PMID:25741868|PMID:28174298|PMID:28492532 12304129 GLRA1 glycine receptor alpha 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:730939 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12304129 GLRA1 glycine receptor alpha 1 gene DOID:9007722 Myoclonus ISO RGD:730939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sleep myoclonus PMID:1334371|PMID:25741868|PMID:28122427|PMID:28138086|PMID:28492532|PMID:28617419|PMID:7518444|PMID:7611730|PMID:7881416|PMID:7981700|PMID:8298642|PMID:8733061 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:0050424 familial adenomatous polyposis severity ISO RGD:14209790 D RGD:9068941 20211126 RGD DNA:SNPs,haplotype:promoter:multiple (pig) PMID:32717306|REF_RGD_ID:150524307 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:0070004 myeloid neoplasm ISO RGD:737004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myeloproliferative disorder PMID:18971950 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:0080006 bone development disease ISO RGD:2425 D RGD:9068941 20210416 RGD PMID:30249809|REF_RGD_ID:41404725 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:0080199 colorectal carcinoma ISO RGD:737004 D RGD:9068941 20220929 RGD mRNA:decreased expression:colorectal mucosa (human) PMID:28675510|REF_RGD_ID:150524297 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:737004 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ISO RGD:737004 D RGD:7240710 20180130 OMIM 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ISO RGD:737004 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids | ClinVar Annotator: match by term: Leukoencephalopathy, diffuse hereditary, with spheroids 1 PMID:16523341|PMID:19153373|PMID:22197934|PMID:22503135|PMID:22934315|PMID:23038421|PMID:23408870|PMID:23411710|PMID:23649896|PMID:23816250|PMID:24034409|PMID:24088041|PMID:24094860|PMID:24120500|PMID:24145216|PMID:24198292|PMID:24336230|PMID:24532199|PMID:2470618|PMID:25012610|PMID:25311247|PMID:25563800|PMID:25741868|PMID:25863088|PMID:26141177|PMID:26141825|PMID:26633545|PMID:27619214|PMID:27680516|PMID:28492532|PMID:28824062|PMID:28843019|PMID:29389947|PMID:29544907|PMID:30268725|PMID:30279455|PMID:30528841|PMID:30661751|PMID:30982609|PMID:31705326|PMID:32055602|PMID:34652888|PMID:8614507 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:0080855 Parkinsonism ISO RGD:737004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:25741868 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:10534 stomach cancer exacerbates ISO RGD:737004 D RGD:9068941 20211126 RGD mRNA:increased expression:stomach (human) PMID:29767252|REF_RGD_ID:150524281 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:10652 Alzheimer's disease ISO RGD:737004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:30279455 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:13139 crescentic glomerulonephritis treatment ISO RGD:2425 D RGD:9068941 20220407 RGD PMID:23408165|REF_RGD_ID:151665815 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:1324 lung cancer exacerbates ISO RGD:737004 D RGD:9068941 20211126 RGD protein:increased expression:lung (human) PMID:29323162|REF_RGD_ID:150524284 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:1324 lung cancer susceptibility ISO RGD:737004 D RGD:9068941 20211126 RGD DNA:missense mutation:CDS:p.H362R (rs10079250) (human) PMID:25144241|REF_RGD_ID:150524283 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:14566 disease of cellular proliferation ISO RGD:737004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:2406720|PMID:25157968 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:1612 breast cancer disease_progression ISO RGD:737004 D RGD:9068941 20200609 RGD PMID:14734466|REF_RGD_ID:2293711 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:1612 breast cancer treatment ISO RGD:10412 D RGD:9068941 20211126 RGD PMID:25385645|REF_RGD_ID:150524304 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:10412 D RGD:9068941 20211126 RGD mouse cell line in a mouse model PMID:24898549|PMID:29436396|REF_RGD_ID:150524289|REF_RGD_ID:150524303 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:737004 D RGD:9068941 20211126 RGD human cells in a mouse model PMID:32304779|REF_RGD_ID:150524290 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:3021 acute kidney failure ISO RGD:10412 D RGD:9068941 20200609 RGD PMID:23143303|REF_RGD_ID:7257565 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:3744 cervical squamous cell carcinoma ISO RGD:737004 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:18565574|REF_RGD_ID:2299119 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737004 D RGD:9068941 20211126 RGD mRNA:decreased expression:esophagus squamous epithelium (human) PMID:32038997|REF_RGD_ID:150524298 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:3907 lung squamous cell carcinoma ISO RGD:737004 D RGD:9068941 20211126 RGD protein:increased expression:lung (human) PMID:23702648|REF_RGD_ID:150524280 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:737004 D RGD:9068941 20211126 RGD mRNA,protein:increased expression:lung (human) PMID:33428598|REF_RGD_ID:150524295 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:737004 D RGD:9068941 20211126 RGD mRNA:decreased expression:lung (human) PMID:24451080|REF_RGD_ID:150524294 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:737004 D RGD:9068941 20211126 RGD human cells in a mouse model PMID:27486763|REF_RGD_ID:150524288 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:737004 D RGD:9068941 20211126 RGD DNA:missense mutation:CDS:p.H362R (rs10079250) (human) PMID:28449811|REF_RGD_ID:150524292 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:3910 lung adenocarcinoma ISO RGD:737004 D RGD:9068941 20211126 RGD protein:increased expression:lung (human) PMID:23702648|REF_RGD_ID:150524280 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:4450 renal cell carcinoma ISO RGD:737004 D RGD:9068941 20200609 RGD PMID:22052465|REF_RGD_ID:7257566 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:4450 renal cell carcinoma ISO RGD:737004 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:18592004|REF_RGD_ID:2299092 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:4450 renal cell carcinoma treatment ISO RGD:10412 D RGD:9068941 20211126 RGD mouse cell line in a mouse model PMID:32302573|REF_RGD_ID:150524293 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:4780 anti-basement membrane glomerulonephritis ameliorates ISO RGD:2425 D RGD:9068941 20220407 RGD PMID:21519331|REF_RGD_ID:151665824 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:2425 D RGD:9068941 20200609 RGD PMID:19242505|REF_RGD_ID:7257569 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:5082 liver cirrhosis exacerbates ISO RGD:737004 D RGD:9068941 20211126 RGD associated with hepatitis C, liver cirrhosis;protein:increased expression:serum (human) PMID:26437001|REF_RGD_ID:11079330 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:5199 ureteral obstruction ISO RGD:10412 D RGD:9068941 20200609 RGD protein:increased expression:kidney, macrophage PMID:16951369|REF_RGD_ID:7257574 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:5223 infertility ISO RGD:2425 D RGD:9068941 20210416 RGD PMID:30249809|REF_RGD_ID:41404725 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:5409 lung small cell carcinoma exacerbates ISO RGD:737004 D RGD:9068941 20211126 RGD protein:increased expression:lung (human) PMID:1390197|REF_RGD_ID:150524305 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:614 lymphopenia ISO RGD:2425 D RGD:9068941 20210416 RGD PMID:30249809|REF_RGD_ID:41404725 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:630 genetic disease ISO RGD:737004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24120500|PMID:24145216|PMID:24336230|PMID:25741868|PMID:28492532|PMID:30982609 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:737004 D RGD:9068941 20211126 RGD protein:increased expression: liver (human) PMID:32760707|REF_RGD_ID:150524286 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:737004 D RGD:9068941 20211126 RGD protein:increased expression:liver (human) PMID:14969845|REF_RGD_ID:150524302 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:737004 D RGD:9068941 20211126 RGD DNA:hypomethylation PMID:11412385|REF_RGD_ID:150524301 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:737004 D RGD:9068941 20211126 RGD mRNA:increased expression:liver (human) PMID:20551429|REF_RGD_ID:150524279 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:684 hepatocellular carcinoma severity ISO RGD:737004 D RGD:9068941 20211126 RGD DNA:hypomethylation:promoter (human) PMID:32724427|REF_RGD_ID:150524282 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:7474 malignant pleural mesothelioma ISO RGD:737004 D RGD:9068941 20211126 RGD mRNA:increased expression:peritoneum�� (human) PMID:24722292|REF_RGD_ID:150524278 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:8634 prostate carcinoma in situ ISO RGD:737004 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:12381783|REF_RGD_ID:2293712 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:737004 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:18565574|REF_RGD_ID:2299119 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9000081 Lymphatic Metastasis ISO RGD:737004 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:14734466|REF_RGD_ID:2293711 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9000099 Experimental Colitis ameliorates ISO RGD:10412 D RGD:9068941 20211126 RGD PMID:23451116|REF_RGD_ID:150524300 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:737004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1390197 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:737004 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:18510570|REF_RGD_ID:2293638 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9000965 Neoplasm Metastasis exacerbates ISO RGD:10412 D RGD:9068941 20211126 RGD associated with breast cancer PMID:25005824|REF_RGD_ID:150524287 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:2425 D RGD:9068941 20220331 RGD mRNA,protein:increased expression:kidney (rat) PMID:32141565|REF_RGD_ID:151665767 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:10412 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:19466391|REF_RGD_ID:2311340 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:737004 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:12381783|REF_RGD_ID:2293712 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9002438 Foreign-Body Reaction ISO RGD:2425 D RGD:9068941 20220331 RGD PMID:33841088|REF_RGD_ID:151665762 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2425 D RGD:9068941 20220407 RGD PMID:18434589|REF_RGD_ID:151665814 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9002704 Leukoencephalopathies ISO RGD:737004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22197934 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2425 D RGD:9068941 20220331 RGD protein:increased expression:right cerebral hemisphere, astrocyte, neuron (rat) PMID:33101590|REF_RGD_ID:151665766 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9003676 Brain Hypoxia-Ischemia exacerbates ISO RGD:2425 D RGD:9068941 20220331 RGD PMID:32522286|REF_RGD_ID:151665765 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9003690 Carcinoma, Lewis Lung ameliorates ISO RGD:10412 D RGD:9068941 20211126 RGD mouse cell line in a mouse model PMID:20008303|REF_RGD_ID:150524291 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9004283 Transplant Rejection ISO RGD:2425 D RGD:9068941 20220407 RGD PMID:24056626|REF_RGD_ID:151665812 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2425 D RGD:9068941 20220407 RGD mRNA,protein:increased expression:retina (rat) PMID:19219684|REF_RGD_ID:151665779 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9005822 BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS ISO RGD:737004 D RGD:7240710 20190807 OMIM 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9005822 BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS ISO RGD:737004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brain abnormalities, neurodegeneration, and dysosteosclerosis PMID:22503135|PMID:23408870|PMID:24120500|PMID:24145216|PMID:24336230|PMID:25563800|PMID:25741868|PMID:28492532|PMID:30982608|PMID:30982609|PMID:32055602|PMID:8614507 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9006182 Carotid Artery Injuries ISO RGD:2425 D RGD:9068941 20220407 RGD mRNA, protein:increased expression: carotid artery endothelium (rat) PMID:27135205|REF_RGD_ID:151665776 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10412 D RGD:9068941 20200609 RGD PMID:23143303|REF_RGD_ID:7257565 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9006532 Hematologic Neoplasms ISO RGD:737004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hematologic neoplasm PMID:18971950|PMID:2406720|PMID:25157968 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737004 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9008091 Optic Nerve Injuries ISO RGD:2425 D RGD:9068941 20220407 RGD mRNA:increased expression:retina (rat) PMID:20187850|REF_RGD_ID:151665810 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9008939 Breast Neoplasms ISO RGD:737004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16618760 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9119 acute myeloid leukemia ISO RGD:737004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1390197 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731382 D RGD:9068941 20211126 RGD DNA:mutation:exon 9: (human) PMID:21171987|REF_RGD_ID:149735515 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9255 frontotemporal dementia ISO RGD:737004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9256 colorectal cancer exacerbates ISO RGD:737004 D RGD:9068941 20211126 RGD protein:decreased expression:colorectum (human) PMID:32118593|REF_RGD_ID:150524285 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9261 nasopharynx carcinoma treatment ISO RGD:737004 D RGD:9068941 20211126 RGD PMID:22267178|REF_RGD_ID:150524299 12304144 CSF1R colony stimulating factor 1 receptor gene DOID:9351 diabetes mellitus ISO RGD:737004 D RGD:9068941 20211126 RGD associated with hepatocellular��carcinoma;DNA:hypermethylation:promoter (human) PMID:32724427|REF_RGD_ID:150524282 12304168 CLMP CXADR like membrane protein gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1602686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intestinal pseudo-obstruction PMID:18209785|PMID:22155368|PMID:25741868|PMID:27352967|PMID:28708303 12304168 CLMP CXADR like membrane protein gene DOID:10605 short bowel syndrome ISO RGD:1602686 D RGD:7240710 20220316 OMIM 12304168 CLMP CXADR like membrane protein gene DOID:10605 short bowel syndrome ISO RGD:1602686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital short bowel syndrome 1 PMID:16707984|PMID:18209785|PMID:22155368|PMID:25741868|PMID:27352967|PMID:28708303 12304168 CLMP CXADR like membrane protein gene DOID:5419 schizophrenia ISO RGD:1602686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12304168 CLMP CXADR like membrane protein gene DOID:630 genetic disease ISO RGD:1602686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12304168 CLMP CXADR like membrane protein gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1602686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12304168 CLMP CXADR like membrane protein gene DOID:9007661 Dwarfism ISO RGD:1602686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12304194 ANKH ANKH inorganic pyrophosphate transport regulator gene DOID:0080033 craniometaphyseal dysplasia ISO RGD:734406 D RGD:9068941 20220825 MouseDO OMIM:122860 | OMIM:123000 | OMIM:218300 | OMIM:218400 | OMIM:614099 | OMIM:614378 12304194 ANKH ANKH inorganic pyrophosphate transport regulator gene DOID:0080801 autosomal dominant craniometaphyseal dysplasia ISO RGD:734405 D RGD:7240710 20180130 OMIM 12304194 ANKH ANKH inorganic pyrophosphate transport regulator gene DOID:0080801 autosomal dominant craniometaphyseal dysplasia ISO RGD:734405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant PMID:11326272|PMID:11326338|PMID:19449425|PMID:20358596|PMID:25741868|PMID:26467025|PMID:2712793|PMID:28492532 12304194 ANKH ANKH inorganic pyrophosphate transport regulator gene DOID:1059 intellectual disability ISO RGD:734405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12304194 ANKH ANKH inorganic pyrophosphate transport regulator gene DOID:1156 chondrocalcinosis ISO RGD:734405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondrocalcinosis 12304194 ANKH ANKH inorganic pyrophosphate transport regulator gene DOID:11832 visual epilepsy ISO RGD:619925 D RGD:9068941 20200609 RGD PMID:12861042|REF_RGD_ID:634632 12304194 ANKH ANKH inorganic pyrophosphate transport regulator gene DOID:289 endometriosis ISO RGD:734405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12304194 ANKH ANKH inorganic pyrophosphate transport regulator gene DOID:630 genetic disease ISO RGD:734405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12304194 ANKH ANKH inorganic pyrophosphate transport regulator gene DOID:848 arthritis ISO RGD:734406 D RGD:9068941 20200609 RGD PMID:10894769|REF_RGD_ID:734569 12304194 ANKH ANKH inorganic pyrophosphate transport regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12304194 ANKH ANKH inorganic pyrophosphate transport regulator gene DOID:9006590 Chondrocalcinosis 2 ISO RGD:734405 D RGD:7240710 20180130 OMIM 12304194 ANKH ANKH inorganic pyrophosphate transport regulator gene DOID:9006590 Chondrocalcinosis 2 ISO RGD:734405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondrocalcinosis 2 PMID:11326272|PMID:12297987|PMID:12297989|PMID:13130483|PMID:19449425|PMID:25741868|PMID:26467025|PMID:2712793|PMID:28492532|PMID:32860008|PMID:8528213|PMID:9915952 12304194 ANKH ANKH inorganic pyrophosphate transport regulator gene DOID:9008731 Craniofacial Abnormalities ISO RGD:734405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18027777 12304194 ANKH ANKH inorganic pyrophosphate transport regulator gene DOID:9009007 Tooth Abnormalities ISO RGD:734405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18027777 12304209 LOC491694 scavenger receptor cysteine-rich domain-containing protein SCART1-like gene DOID:13938 amenorrhea ISO RGD:12792009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12304229 HCFC1 host cell factor C1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1345622 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12304229 HCFC1 host cell factor C1 gene DOID:0050476 Barth syndrome ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12304229 HCFC1 host cell factor C1 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1345622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase PMID:24011988|PMID:25167861|PMID:25281006|PMID:25741868|PMID:26893841|PMID:27403441|PMID:28492532 12304229 HCFC1 host cell factor C1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 12304229 HCFC1 host cell factor C1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 12304229 HCFC1 host cell factor C1 gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 12304229 HCFC1 host cell factor C1 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 12304229 HCFC1 host cell factor C1 gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 12304229 HCFC1 host cell factor C1 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1345622 D RGD:7240710 20180130 OMIM 12304229 HCFC1 host cell factor C1 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:17576681|PMID:18414213|PMID:1870093|PMID:23000143|PMID:23539139|PMID:24011988|PMID:25167861|PMID:25281006|PMID:25740848|PMID:25741868|PMID:26893841|PMID:27403441|PMID:28363510|PMID:28449119|PMID:28492532|PMID:28554332|PMID:35013307|PMID:9536098 12304229 HCFC1 host cell factor C1 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1345622 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 12304229 HCFC1 host cell factor C1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1345622 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12304229 HCFC1 host cell factor C1 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1345622 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:25741868 12304229 HCFC1 host cell factor C1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12304229 HCFC1 host cell factor C1 gene DOID:1059 intellectual disability ISO RGD:1345622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:24011988|PMID:25167861|PMID:25281006|PMID:25741868|PMID:26893841|PMID:27403441|PMID:28492532 12304229 HCFC1 host cell factor C1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12304229 HCFC1 host cell factor C1 gene DOID:12849 autistic disorder ISO RGD:1345622 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Mental retardation, X-linked PMID:21681106|PMID:23000143|PMID:25740848|PMID:25741868|PMID:30208311 12304229 HCFC1 host cell factor C1 gene DOID:13628 favism ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12304229 HCFC1 host cell factor C1 gene DOID:2729 dyskeratosis congenita ISO RGD:1345622 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12304229 HCFC1 host cell factor C1 gene DOID:607 paraplegia ISO RGD:1345622 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12304229 HCFC1 host cell factor C1 gene DOID:630 genetic disease ISO RGD:1345622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23539139|PMID:24011988|PMID:25740848|PMID:25741868|PMID:28492532|PMID:28554332 12304229 HCFC1 host cell factor C1 gene DOID:655 inherited metabolic disorder ISO RGD:1345622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:24011988|PMID:25167861|PMID:25281006|PMID:25741868|PMID:26893841|PMID:27403441|PMID:28363510|PMID:28449119|PMID:28492532|PMID:35013307 12304229 HCFC1 host cell factor C1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1345622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:29255178 12304229 HCFC1 host cell factor C1 gene DOID:9002720 Splenomegaly ISO RGD:1345622 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12304229 HCFC1 host cell factor C1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12304229 HCFC1 host cell factor C1 gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 12304229 HCFC1 host cell factor C1 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 12304229 HCFC1 host cell factor C1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1345622 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Mental retardation, X-linked PMID:23000143|PMID:25740848|PMID:25741868 12304229 HCFC1 host cell factor C1 gene DOID:9007188 Liver Neoplasms ISO RGD:1345622 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19255062 12304266 TMEM163 transmembrane protein 163 gene DOID:576 proteinuria ISO RGD:1306212 D RGD:9068941 20200609 RGD PMID:21257920|REF_RGD_ID:12798539 12304266 TMEM163 transmembrane protein 163 gene DOID:630 genetic disease ISO RGD:1604280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12304266 TMEM163 transmembrane protein 163 gene DOID:9001632 Hypomyelinating Leukodystrophy 25 ISO RGD:1604280 D RGD:7240710 20230505 OMIM 12304266 TMEM163 transmembrane protein 163 gene DOID:9001632 Hypomyelinating Leukodystrophy 25 ISO RGD:1604280 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 25 PMID:35455965|PMID:35953447 12304277 MRNIP MRN complex interacting protein gene DOID:5408 Paget's disease of bone ISO RGD:1606005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone Paget disease 12304277 MRNIP MRN complex interacting protein gene DOID:9005240 Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy ISO RGD:1606005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset PMID:25741868 12304277 MRNIP MRN complex interacting protein gene DOID:9007946 Paget Disease of Bone 3 ISO RGD:1606005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paget disease of bone 3 12304299 LOC607776 uncharacterized protein CXorf49 homolog gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:2303429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12304299 LOC607776 uncharacterized protein CXorf49 homolog gene DOID:12849 autistic disorder ISO RGD:2303429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12304313 APOOL apolipoprotein O like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12304313 APOOL apolipoprotein O like gene DOID:12849 autistic disorder ISO RGD:1351827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12304313 APOOL apolipoprotein O like gene DOID:630 genetic disease ISO RGD:1351827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12304329 GPALPP1 GPALPP motifs containing 1 gene DOID:630 genetic disease ISO RGD:1316340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12304352 CSF2RA colony stimulating factor 2 receptor subunit alpha gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1351351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29484482 12304352 CSF2RA colony stimulating factor 2 receptor subunit alpha gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1614464 D RGD:9068941 20220825 MouseDO OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370 12304352 CSF2RA colony stimulating factor 2 receptor subunit alpha gene DOID:12849 autistic disorder ISO RGD:1351351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12304352 CSF2RA colony stimulating factor 2 receptor subunit alpha gene DOID:9005853 Pulmonary Surfactant Metabolism Dysfunction 4 ISO RGD:1351351 D RGD:7240710 20180130 OMIM 12304352 CSF2RA colony stimulating factor 2 receptor subunit alpha gene DOID:9005853 Pulmonary Surfactant Metabolism Dysfunction 4 ISO RGD:1351351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 4 PMID:16199547|PMID:17576681|PMID:18955567|PMID:18955570|PMID:20622029|PMID:24033266|PMID:25425184|PMID:25741868|PMID:28492532|PMID:30124884|PMID:9536098 12304384 BMERB1 bMERB domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:1345550 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12304384 BMERB1 bMERB domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1345550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12304384 BMERB1 bMERB domain containing 1 gene DOID:1826 epilepsy ISO RGD:1345550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12304384 BMERB1 bMERB domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1345550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12304384 BMERB1 bMERB domain containing 1 gene DOID:8445 intestinal volvulus ISO RGD:1345550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12304384 BMERB1 bMERB domain containing 1 gene DOID:9000664 Familial Thoracic Aortic Aneurysm 4 ISO RGD:1345550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:22318994|PMID:27884122|PMID:28492532|PMID:29179725 12304384 BMERB1 bMERB domain containing 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1345550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12304394 SPACA4 sperm acrosome associated 4 gene DOID:630 genetic disease ISO RGD:1343720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:0050211 swine influenza ISO RGD:735994 D RGD:9068941 20201117 RGD PMID:20130050|REF_RGD_ID:40818269 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:0060704 lymphoproliferative syndrome disease_progression ISO RGD:735993 D RGD:9068941 20201105 RGD associated with Postoperative Complications and Epstein-Barr Virus Infections; protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:22105417|REF_RGD_ID:39128180 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:11168 anogenital venereal wart ISO RGD:735993 D RGD:9068941 20201105 RGD mRNA,protein:decreased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:1883 hepatitis C ISO RGD:735993 D RGD:9068941 20200924 RGD mRNA:decreased expression:peripheral blood mono-nuclear cell, natural killer cell (human) PMID:26518141|REF_RGD_ID:11553576 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:1883 hepatitis C ISO RGD:735993 D RGD:9068941 20201118 RGD protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human) PMID:27091211|REF_RGD_ID:40818300 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:1883 hepatitis C disease_progression ISO RGD:735993 D RGD:9068941 20201118 RGD associated with HIV Seropositivity;protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human) PMID:27091211|REF_RGD_ID:40818300 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:1909 melanoma ISO RGD:735993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17295095 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:2043 hepatitis B treatment ISO RGD:735994 D RGD:9068941 20200924 RGD PMID:17991774|PMID:28318408|REF_RGD_ID:38676490|REF_RGD_ID:39128174 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:321 tropical spastic paraparesis susceptibility ISO RGD:735993 D RGD:9068941 20200924 RGD DNA:SNPs:3'utr, 5'utr: (rs1049174,rs12821887,rs12819494) (human) PMID:22170554|REF_RGD_ID:39018559 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:3213 demyelinating disease ISO RGD:735994 D RGD:9068941 20200924 RGD associated with Coronaviridae infections PMID:18160433|REF_RGD_ID:38676491 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:399 tuberculosis ISO RGD:735994 D RGD:9068941 20200924 RGD PMID:16619285|REF_RGD_ID:39018558 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:399 tuberculosis treatment ISO RGD:735993 D RGD:9068941 20200924 RGD PMID:23922903|REF_RGD_ID:39128143 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:4231 histiocytoma treatment ISO RGD:3180 D RGD:9068941 20200609 RGD PMID:15048723|REF_RGD_ID:9685182 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:630 genetic disease ISO RGD:735993 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:9000873 Adenoviridae Infections ISO RGD:735994 D RGD:9068941 20200924 RGD PMID:21076062|REF_RGD_ID:39018557 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:9001645 Coronaviridae Infections ISO RGD:735994 D RGD:9068941 20200924 RGD PMID:18094157|REF_RGD_ID:38676499 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:9002137 Infectious Ectromelia susceptibility ISO RGD:735994 D RGD:9068941 20200924 RGD PMID:18266471|REF_RGD_ID:38676489 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:9003284 HIV Seropositivity ISO RGD:735993 D RGD:9068941 20201118 RGD protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human) PMID:27091211|REF_RGD_ID:40818300 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:9003393 AIDS-Related Complex treatment ISO RGD:735993 D RGD:9068941 20200924 RGD PMID:23018378|REF_RGD_ID:39018554 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:735993 D RGD:9068941 20201106 RGD protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human) PMID:21168454|REF_RGD_ID:40400738 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:735993 D RGD:9068941 20201112 RGD protein:decreased expression:liver,natural killer cell (human) PMID:25148254|REF_RGD_ID:40813739 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:735993 D RGD:9068941 20200924 RGD PMID:25965701|REF_RGD_ID:39018562 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:9004283 Transplant Rejection ISO RGD:3180 D RGD:9068941 20200609 RGD PMID:20306467|REF_RGD_ID:9685184 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:9004484 Sepsis susceptibility ISO RGD:735994 D RGD:9068941 20200924 RGD associated with Gram-Negative Bacterial Infections PMID:28087665|REF_RGD_ID:38676493 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:9004702 Pregnancy Complications treatment ISO RGD:735994 D RGD:9068941 20200924 RGD associated with Animal Toxoplasmosis PMID:28438315|REF_RGD_ID:39128164 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:735994 D RGD:9068941 20200924 RGD PMID:19631564|PMID:28760883|REF_RGD_ID:38676488|REF_RGD_ID:39018560 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:9006262 Cytomegalovirus Infections severity ISO RGD:735993 D RGD:9068941 20200924 RGD DNA:SNP:cds: c.214A>G (rs2255336) (human) PMID:25861030|REF_RGD_ID:39018561 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:735993 D RGD:9068941 20200924 RGD DNA:SNP,haplotypes:3'utr: (rs10772271) (human) PMID:29967528|REF_RGD_ID:39128159 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:9007417 Pseudomonas Infections ISO RGD:735994 D RGD:9068941 20200924 RGD PMID:18832705|REF_RGD_ID:38676496 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3180 D RGD:9068941 20200609 RGD PMID:23953572|REF_RGD_ID:9685183 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:735993 D RGD:9068941 20200924 RGD DNA:SNP:intron 1:(rs2617160) (human) PMID:20648603|REF_RGD_ID:39018553 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:9111 cutaneous leishmaniasis treatment ISO RGD:735994 D RGD:9068941 20200924 RGD associated with lymphocytic choriomeningitis PMID:26290604|REF_RGD_ID:39128165 12304399 KLRK1 killer cell lectin like receptor K1 gene DOID:9744 type 1 diabetes mellitus disease_progression ISO RGD:735994 D RGD:9068941 20200924 RGD associated with lymphocytic choriomeningitis PMID:22944096|REF_RGD_ID:38676492 12304420 TBX10 T-box transcription factor 10 gene DOID:1059 intellectual disability ISO RGD:1342498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12304420 TBX10 T-box transcription factor 10 gene DOID:630 genetic disease ISO RGD:1342498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12304420 TBX10 T-box transcription factor 10 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1342498 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12304420 TBX10 T-box transcription factor 10 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1342498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12304439 AGBL2 AGBL carboxypeptidase 2 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1602682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12304439 AGBL2 AGBL carboxypeptidase 2 gene DOID:1059 intellectual disability ISO RGD:1602682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12304439 AGBL2 AGBL carboxypeptidase 2 gene DOID:630 genetic disease ISO RGD:1602682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12304485 STK24 serine/threonine kinase 24 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1345827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 12304485 STK24 serine/threonine kinase 24 gene DOID:4621 holoprosencephaly ISO RGD:1345827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 12304485 STK24 serine/threonine kinase 24 gene DOID:630 genetic disease ISO RGD:1345827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12304485 STK24 serine/threonine kinase 24 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1345827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12304518 LOC102153605 uncharacterized protein C17orf107 gene DOID:0050941 spastic ataxia 2 ISO RGD:3051040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 12304518 LOC102153605 uncharacterized protein C17orf107 gene DOID:0110662 congenital myasthenic syndrome 1B ISO RGD:3051040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 1B, fast-channel PMID:17878953|PMID:26467025|PMID:28492532|PMID:8755487 12304518 LOC102153605 uncharacterized protein C17orf107 gene DOID:0110663 congenital myasthenic syndrome 1A ISO RGD:3051040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic slow-channel PMID:20301347|PMID:20562457|PMID:22678886|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29054425|PMID:29383513|PMID:9708546 12304518 LOC102153605 uncharacterized protein C17orf107 gene DOID:0110677 congenital myasthenic syndrome 4B ISO RGD:3051040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4B | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4b, fast-channel PMID:10211467|PMID:10382905|PMID:11960891|PMID:12417530|PMID:17878953|PMID:19544078|PMID:20301347|PMID:20562457|PMID:21940170|PMID:22592360|PMID:22678886|PMID:24033266|PMID:24295813|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29383513|PMID:31980526|PMID:8232384|PMID:8663316|PMID:8755487|PMID:9158150|PMID:9606190|PMID:9708546 12304518 LOC102153605 uncharacterized protein C17orf107 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:3051040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel PMID:10211467|PMID:10382905|PMID:11960891|PMID:12034803|PMID:12141316|PMID:12356851|PMID:12417530|PMID:12536367|PMID:14532324|PMID:14592868|PMID:15145336|PMID:16061559|PMID:16198106|PMID:16199547|PMID:17576681|PMID:17878953|PMID:18414213|PMID:19153382|PMID:19289485|PMID:19544078|PMID:20157724|PMID:20301347|PMID:20562457|PMID:21150643|PMID:21520333|PMID:21822932|PMID:21940170|PMID:22178625|PMID:22382357|PMID:22678886|PMID:24033266|PMID:24295813|PMID:25640679|PMID:25741868|PMID:26284228|PMID:26467025|PMID:27717316|PMID:27779167|PMID:28464723|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29367459|PMID:29383513|PMID:29702980|PMID:30124556|PMID:30542963|PMID:30931400|PMID:31773638|PMID:31980526|PMID:32721234|PMID:3651795|PMID:7531341|PMID:7538206|PMID:7863154|PMID:8232384|PMID:8663316|PMID:8755487|PMID:8872460|PMID:9158150|PMID:9536098|PMID:9539130|PMID:9606190|PMID:9708546 12304518 LOC102153605 uncharacterized protein C17orf107 gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:3051040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic, associated with acetylcholine receptor deficiency PMID:10211467|PMID:11030414|PMID:12417530|PMID:16087917|PMID:17576681|PMID:17878953|PMID:19544078|PMID:20301347|PMID:20562457|PMID:21940170|PMID:22678886|PMID:24033266|PMID:24295813|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29383513|PMID:31980526|PMID:8755487|PMID:9158150|PMID:9536098|PMID:9708546 12304518 LOC102153605 uncharacterized protein C17orf107 gene DOID:3635 congenital myasthenic syndrome ISO RGD:3051040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital PMID:12141316|PMID:12417530|PMID:12536367|PMID:16199547|PMID:17576681|PMID:17878953|PMID:18414213|PMID:19153382|PMID:19544078|PMID:20157724|PMID:20301347|PMID:20562457|PMID:21150643|PMID:21940170|PMID:22382357|PMID:22678886|PMID:24033266|PMID:24295813|PMID:25741868|PMID:26284228|PMID:26467025|PMID:27717316|PMID:28464723|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29383513|PMID:31980526|PMID:8755487|PMID:9158150|PMID:9536098|PMID:9539130|PMID:9708546 12304518 LOC102153605 uncharacterized protein C17orf107 gene DOID:630 genetic disease ISO RGD:3051040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12304604 ANP32B acidic nuclear phosphoprotein 32 family member B gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:731659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 12304604 ANP32B acidic nuclear phosphoprotein 32 family member B gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:731659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 12304604 ANP32B acidic nuclear phosphoprotein 32 family member B gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:731659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 12304604 ANP32B acidic nuclear phosphoprotein 32 family member B gene DOID:1059 intellectual disability ISO RGD:731659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12304604 ANP32B acidic nuclear phosphoprotein 32 family member B gene DOID:12712 nephronophthisis ISO RGD:731659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 12304604 ANP32B acidic nuclear phosphoprotein 32 family member B gene DOID:14004 thoracic aortic aneurysm ISO RGD:731659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:20813212|PMID:28492532 12304604 ANP32B acidic nuclear phosphoprotein 32 family member B gene DOID:630 genetic disease ISO RGD:731659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12304604 ANP32B acidic nuclear phosphoprotein 32 family member B gene DOID:9000039 Spinal Cord Injuries ISO RGD:621285 D RGD:9068941 20200609 RGD PMID:25034417|REF_RGD_ID:10401137 12304604 ANP32B acidic nuclear phosphoprotein 32 family member B gene DOID:9001793 Generalized Epilepsy ISO RGD:731659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 12304618 MRPS15 mitochondrial ribosomal protein S15 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12304618 MRPS15 mitochondrial ribosomal protein S15 gene DOID:630 genetic disease ISO RGD:1347502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12304627 TMEM184C transmembrane protein 184C gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1349593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 12304627 TMEM184C transmembrane protein 184C gene DOID:630 genetic disease ISO RGD:1349593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12304627 TMEM184C transmembrane protein 184C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868 12304642 MATCAP2 microtubule associated tyrosine carboxypeptidase 2 gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1603687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:28492532 12304642 MATCAP2 microtubule associated tyrosine carboxypeptidase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12304642 MATCAP2 microtubule associated tyrosine carboxypeptidase 2 gene DOID:630 genetic disease ISO RGD:1603687 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12304674 HRC histidine rich calcium binding protein gene DOID:0050451 Brugada syndrome ISO RGD:1343095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 12304674 HRC histidine rich calcium binding protein gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1343095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12304674 HRC histidine rich calcium binding protein gene DOID:0111073 progressive familial heart block ISO RGD:1343095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 12304674 HRC histidine rich calcium binding protein gene DOID:0111074 progressive familial heart block type IA ISO RGD:1343095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 12304674 HRC histidine rich calcium binding protein gene DOID:0111076 progressive familial heart block type IB ISO RGD:1343095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type 1B | ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 12304674 HRC histidine rich calcium binding protein gene DOID:630 genetic disease ISO RGD:1343095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12304674 HRC histidine rich calcium binding protein gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1343095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 12304674 HRC histidine rich calcium binding protein gene DOID:9003139 Cardiac Fibrosis severity ISO RGD:1550883 D RGD:9068941 20200609 RGD associated with Heart Failure PMID:22952658|REF_RGD_ID:9685495 12304674 HRC histidine rich calcium binding protein gene DOID:9003936 Cardiomegaly ISO RGD:1343095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17030629 12304674 HRC histidine rich calcium binding protein gene DOID:9007633 Body Weight ISO RGD:1343095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17030629 12304674 HRC histidine rich calcium binding protein gene DOID:9009094 Progressive Familial Heart Block Type I ISO RGD:1343095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Heart block progressive familial type 1 PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 12304684 UMODL1 uromodulin like 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1351162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12304684 UMODL1 uromodulin like 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1351162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12304684 UMODL1 uromodulin like 1 gene DOID:10283 prostate cancer ISO RGD:1351162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12304684 UMODL1 uromodulin like 1 gene DOID:630 genetic disease ISO RGD:1351162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12304684 UMODL1 uromodulin like 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1351162 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12304684 UMODL1 uromodulin like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12304684 UMODL1 uromodulin like 1 gene DOID:9263 homocystinuria ISO RGD:1351162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12304684 UMODL1 uromodulin like 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12304710 TRIAP1 TP53 regulated inhibitor of apoptosis 1 gene DOID:630 genetic disease ISO RGD:1602327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12304716 CLCN4 chloride voltage-gated channel 4 gene DOID:0080600 COVID-19 ISO RGD:1342594 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12304716 CLCN4 chloride voltage-gated channel 4 gene DOID:0112060 Raynaud-Claes syndrome ISO RGD:1342594 D RGD:7240710 20180130 OMIM 12304716 CLCN4 chloride voltage-gated channel 4 gene DOID:0112060 Raynaud-Claes syndrome ISO RGD:1342594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CLCN4-related X-linked intellectual disability syndrome | ClinVar Annotator: match by term: CLCN4-related disorder | ClinVar Annotator: match by term: MRX49 | ClinVar Annotator: match by term: RAYNAUD-CLAES SYNDROME PMID:17576681|PMID:23647072|PMID:25644381|PMID:25741868|PMID:25741869|PMID:26633542|PMID:27550844|PMID:28492532|PMID:29314583|PMID:31452935|PMID:31690835|PMID:31780880|PMID:33880059|PMID:8826458|PMID:9415477|PMID:9536098 12304716 CLCN4 chloride voltage-gated channel 4 gene DOID:1059 intellectual disability ISO RGD:1342594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12304716 CLCN4 chloride voltage-gated channel 4 gene DOID:10907 microcephaly ISO RGD:1342594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12304716 CLCN4 chloride voltage-gated channel 4 gene DOID:12849 autistic disorder ISO RGD:1342594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12304716 CLCN4 chloride voltage-gated channel 4 gene DOID:1826 epilepsy ISO RGD:1342594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12304716 CLCN4 chloride voltage-gated channel 4 gene DOID:630 genetic disease ISO RGD:1342594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27550844|PMID:28492532|PMID:29314583 12304716 CLCN4 chloride voltage-gated channel 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12304716 CLCN4 chloride voltage-gated channel 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1342594 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 12304733 WDR37 WD repeat domain 37 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1314666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318|PMID:31780822 12304733 WDR37 WD repeat domain 37 gene DOID:0111675 neurooculocardiogenitourinary syndrome ISO RGD:1314666 D RGD:7240710 20200219 OMIM 12304733 WDR37 WD repeat domain 37 gene DOID:0111675 neurooculocardiogenitourinary syndrome ISO RGD:1314666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurooculocardiogenitourinary syndrome PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318|PMID:31780822|PMID:34642815 12304733 WDR37 WD repeat domain 37 gene DOID:1059 intellectual disability ISO RGD:1314666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318 12304733 WDR37 WD repeat domain 37 gene DOID:10908 hydrocephalus ISO RGD:1314666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318 12304733 WDR37 WD repeat domain 37 gene DOID:12270 coloboma ISO RGD:1314666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coloboma PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318 12304733 WDR37 WD repeat domain 37 gene DOID:13938 amenorrhea ISO RGD:1314666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12304733 WDR37 WD repeat domain 37 gene DOID:1826 epilepsy ISO RGD:1314666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318 12304733 WDR37 WD repeat domain 37 gene DOID:630 genetic disease ISO RGD:1314666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:31327508|PMID:31327510|PMID:31780822 12304733 WDR37 WD repeat domain 37 gene DOID:9008086 Developmental Disabilities ISO RGD:1314666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318 12304733 WDR37 WD repeat domain 37 gene DOID:9009131 Ventriculomegaly ISO RGD:1314666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318 12304761 TBX1 T-box transcription factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12304761 TBX1 T-box transcription factor 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1317100 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12304761 TBX1 T-box transcription factor 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1317100 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12304761 TBX1 T-box transcription factor 1 gene DOID:0111996 immunodeficiency 51 ISO RGD:1317100 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12304761 TBX1 T-box transcription factor 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1317100 D RGD:9068941 20221103 RGD DNA:frameshift mutation:CDS:p.G387AfsX73 (human) PMID:32110744|REF_RGD_ID:155641234 12304761 TBX1 T-box transcription factor 1 gene DOID:1059 intellectual disability ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12304761 TBX1 T-box transcription factor 1 gene DOID:10754 otitis media ISO RGD:1317101 D RGD:9068941 20220825 MouseDO OMIM:166760 12304761 TBX1 T-box transcription factor 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1317100 D RGD:7240710 20180130 OMIM 12304761 TBX1 T-box transcription factor 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1317100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge Syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:11239417|PMID:11242049|PMID:11748311|PMID:14585638|PMID:15060116|PMID:15355425|PMID:15703190|PMID:16199547|PMID:17273972|PMID:17576681|PMID:18375573|PMID:19948535|PMID:20937753|PMID:21921585|PMID:24033266|PMID:24637876|PMID:24826987|PMID:24998776|PMID:25205790|PMID:25516202|PMID:25741868|PMID:25860641|PMID:26467025|PMID:26805781|PMID:26805782|PMID:27879657|PMID:28272434|PMID:28492532|PMID:29250159|PMID:29500247|PMID:30007050|PMID:30245509|PMID:30773290|PMID:31690835|PMID:32110744|PMID:32581362|PMID:9536098 12304761 TBX1 T-box transcription factor 1 gene DOID:11199 hypoparathyroidism ISO RGD:1317100 D RGD:9068941 20221103 RGD DNA:frameshift mutation:CDS:p.G387AfsX73 (human) PMID:32110744|REF_RGD_ID:155641234 12304761 TBX1 T-box transcription factor 1 gene DOID:11372 megacolon ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12304761 TBX1 T-box transcription factor 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1317100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12304761 TBX1 T-box transcription factor 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1317100 D RGD:7240710 20180418 OMIM 12304761 TBX1 T-box transcription factor 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Shprintzen VCF syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:11748311|PMID:15355425|PMID:16684884|PMID:17273972|PMID:18375573|PMID:25741868|PMID:28492532 12304761 TBX1 T-box transcription factor 1 gene DOID:12849 autistic disorder ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12304761 TBX1 T-box transcription factor 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 12304761 TBX1 T-box transcription factor 1 gene DOID:13994 cleidocranial dysplasia ISO RGD:1317101 D RGD:9068941 20221103 RGD PMID:25209980|REF_RGD_ID:155641242 12304761 TBX1 T-box transcription factor 1 gene DOID:14780 KBG syndrome ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: KBG syndrome 12304761 TBX1 T-box transcription factor 1 gene DOID:1657 ventricular septal defect ISO RGD:1317100 D RGD:9068941 20221103 RGD DNA:SNP:promoter:g.4199C>T (human) PMID:22801995|REF_RGD_ID:155631302 12304761 TBX1 T-box transcription factor 1 gene DOID:1682 congenital heart disease ISO RGD:1317100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17000704 12304761 TBX1 T-box transcription factor 1 gene DOID:1682 congenital heart disease ISO RGD:1317100 D RGD:9068941 20221103 RGD DNA:nonsense mutation:CDS:p.Q277X (human) PMID:25860641|REF_RGD_ID:11342394 12304761 TBX1 T-box transcription factor 1 gene DOID:1682 congenital heart disease ISO RGD:1317100 D RGD:9068941 20221103 RGD mRNA, protein:decreased expression:blood (human) PMID:29568912|REF_RGD_ID:155631308 12304761 TBX1 T-box transcription factor 1 gene DOID:1682 congenital heart disease ISO RGD:1317100 D RGD:9068941 20221110 RGD DNA:SNPs:intron 1: (rs5748417, rs5748418) (human) PMID:22185286|REF_RGD_ID:155663347 12304761 TBX1 T-box transcription factor 1 gene DOID:1682 congenital heart disease ISO RGD:1317100 D RGD:9068941 20221110 RGD DNA:missense mutation:CDS:p.P190Q (human) PMID:29596833|REF_RGD_ID:155663346 12304761 TBX1 T-box transcription factor 1 gene DOID:1826 epilepsy ISO RGD:1317100 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:26467025|PMID:28492532|PMID:30773290 12304761 TBX1 T-box transcription factor 1 gene DOID:2213 hemorrhagic disease ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 12304761 TBX1 T-box transcription factor 1 gene DOID:3021 acute kidney failure ISO RGD:1307734 D RGD:9068941 20230128 RGD mRNA:increased expression:kidney (rat) PMID:24817956|REF_RGD_ID:155882498 12304761 TBX1 T-box transcription factor 1 gene DOID:5419 schizophrenia ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12304761 TBX1 T-box transcription factor 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12304761 TBX1 T-box transcription factor 1 gene DOID:630 genetic disease ISO RGD:1317100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12304761 TBX1 T-box transcription factor 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1317100 D RGD:7240710 20180130 OMIM 12304761 TBX1 T-box transcription factor 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1317100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot PMID:11748311|PMID:15355425|PMID:18375573|PMID:19948535|PMID:24998776|PMID:25741868|PMID:28272434|PMID:28492532 12304761 TBX1 T-box transcription factor 1 gene DOID:674 cleft palate ISO RGD:1317101 D RGD:9068941 20221103 RGD PMID:25556186|PMID:30121012|REF_RGD_ID:155631306|REF_RGD_ID:155641231 12304761 TBX1 T-box transcription factor 1 gene DOID:9001460 22q11 Deletion Syndrome ISO RGD:1317101 D RGD:9068941 20221111 RGD PMID:16452092|REF_RGD_ID:155663362 12304761 TBX1 T-box transcription factor 1 gene DOID:9002156 Takao VCF Syndrome ISO RGD:1317100 D RGD:8554872 20220913 ClinVar ClinVar Annotator: match by term: Conotruncal anomaly face syndrome PMID:14585638|PMID:15703190|PMID:17273972 12304761 TBX1 T-box transcription factor 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1317055 D RGD:9068941 20221103 RGD PMID:21364285|REF_RGD_ID:11561941 12304761 TBX1 T-box transcription factor 1 gene DOID:9003483 Conductive Hearing Loss ISO RGD:1317101 D RGD:9068941 20221110 RGD DNA:missense mutation:CDS:p.W118R (mouse) PMID:28105375|REF_RGD_ID:155663349 12304761 TBX1 T-box transcription factor 1 gene DOID:9003871 Venous Thrombosis ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 12304761 TBX1 T-box transcription factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12304761 TBX1 T-box transcription factor 1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1317100 D RGD:7240710 20180530 OMIM 12304761 TBX1 T-box transcription factor 1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1317100 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal heart malformations PMID:11748311|PMID:14585638|PMID:15355425|PMID:15703190|PMID:17273972|PMID:17576681|PMID:18375573|PMID:25741868|PMID:28492532|PMID:9536098 12304761 TBX1 T-box transcription factor 1 gene DOID:9007661 Dwarfism ISO RGD:1317100 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12304761 TBX1 T-box transcription factor 1 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1317100 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12304761 TBX1 T-box transcription factor 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1317100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15190012|PMID:17000704 12304761 TBX1 T-box transcription factor 1 gene DOID:9009050 Hypocalcemia ISO RGD:1317100 D RGD:9068941 20221103 RGD DNA:frameshift mutation:CDS:p.G387AfsX73 (human) PMID:32110744|REF_RGD_ID:155641234 12304761 TBX1 T-box transcription factor 1 gene DOID:9408 acute myocardial infarction treatment ISO RGD:1307734 D RGD:9068941 20230128 RGD PMID:27422448|REF_RGD_ID:155882497 12304761 TBX1 T-box transcription factor 1 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome PMID:28492532 12304771 PTPRE protein tyrosine phosphatase receptor type E gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1346203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12304771 PTPRE protein tyrosine phosphatase receptor type E gene DOID:630 genetic disease ISO RGD:1346203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12304806 CDK6 cyclin dependent kinase 6 gene DOID:0050902 medulloblastoma ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706|PMID:23138228 12304806 CDK6 cyclin dependent kinase 6 gene DOID:0050902 medulloblastoma disease_progression ISO RGD:735400 D RGD:9068941 20200609 RGD PMID:16314645|REF_RGD_ID:13702096 12304806 CDK6 cyclin dependent kinase 6 gene DOID:0060224 atrial fibrillation ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12304806 CDK6 cyclin dependent kinase 6 gene DOID:0070284 primary autosomal recessive microcephaly 12 ISO RGD:735400 D RGD:7240710 20180130 OMIM 12304806 CDK6 cyclin dependent kinase 6 gene DOID:0070284 primary autosomal recessive microcephaly 12 ISO RGD:735400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 12, primary, autosomal recessive PMID:23918663 12304806 CDK6 cyclin dependent kinase 6 gene DOID:13241 Behcet's disease ISO RGD:735400 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Behcet disease 12304806 CDK6 cyclin dependent kinase 6 gene DOID:1790 malignant mesothelioma ISO RGD:735400 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12304806 CDK6 cyclin dependent kinase 6 gene DOID:2355 anemia ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28255017 12304806 CDK6 cyclin dependent kinase 6 gene DOID:3068 glioblastoma ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20534551 12304806 CDK6 cyclin dependent kinase 6 gene DOID:3068 glioblastoma severity ISO RGD:735400 D RGD:9068941 20200609 RGD PMID:10884881|REF_RGD_ID:13702095 12304806 CDK6 cyclin dependent kinase 6 gene DOID:3070 high grade glioma ISO RGD:735400 D RGD:9068941 20200609 RGD DNA:amplification: PMID:9102208|REF_RGD_ID:13702094 12304806 CDK6 cyclin dependent kinase 6 gene DOID:3070 high grade glioma severity ISO RGD:735400 D RGD:9068941 20200609 RGD PMID:22736304|REF_RGD_ID:13702093 12304806 CDK6 cyclin dependent kinase 6 gene DOID:3587 pancreatic ductal carcinoma treatment ISO RGD:735400 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:24389175|REF_RGD_ID:13782187 12304806 CDK6 cyclin dependent kinase 6 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735400 D RGD:9068941 20200609 RGD PMID:27874949|REF_RGD_ID:13464321 12304806 CDK6 cyclin dependent kinase 6 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:735400 D RGD:9068941 20200609 RGD PMID:23591808|REF_RGD_ID:13464324 12304806 CDK6 cyclin dependent kinase 6 gene DOID:3910 lung adenocarcinoma ISO RGD:735400 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:10574260|REF_RGD_ID:13464325 12304806 CDK6 cyclin dependent kinase 6 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:735400 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:25050737|REF_RGD_ID:13782144 12304806 CDK6 cyclin dependent kinase 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12304806 CDK6 cyclin dependent kinase 6 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29464035 12304806 CDK6 cyclin dependent kinase 6 gene DOID:630 genetic disease ISO RGD:735400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12304806 CDK6 cyclin dependent kinase 6 gene DOID:7148 rheumatoid arthritis ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18794853 12304806 CDK6 cyclin dependent kinase 6 gene DOID:7698 non-functioning pancreatic endocrine tumor ISO RGD:735400 D RGD:9068941 20200609 RGD associated with multiple endocrine neoplasia type 1;mRNA:increased expression:islet of Langerhans (human) PMID:29149451|REF_RGD_ID:13781946 12304806 CDK6 cyclin dependent kinase 6 gene DOID:9001341 Chloracne ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12304806 CDK6 cyclin dependent kinase 6 gene DOID:9002777 Brain Stem Neoplasms ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24098593 12304806 CDK6 cyclin dependent kinase 6 gene DOID:9004814 Chromosome Aberrations ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24736461 12304806 CDK6 cyclin dependent kinase 6 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25221644 12304806 CDK6 cyclin dependent kinase 6 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:735400 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:33727089 12304806 CDK6 cyclin dependent kinase 6 gene DOID:9007096 Stroke ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 12304806 CDK6 cyclin dependent kinase 6 gene DOID:9119 acute myeloid leukemia ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 12304806 CDK6 cyclin dependent kinase 6 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24736461 12304826 RNLS renalase, FAD dependent amine oxidase gene DOID:0050851 glomerulosclerosis ISO RGD:1309804 D RGD:9068941 20200609 RGD PMID:24022426|REF_RGD_ID:7327155 12304826 RNLS renalase, FAD dependent amine oxidase gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1320337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9286463|PMID:9467011 12304826 RNLS renalase, FAD dependent amine oxidase gene DOID:1063 interstitial nephritis ISO RGD:1309804 D RGD:9068941 20200609 RGD PMID:24022426|REF_RGD_ID:7327155 12304826 RNLS renalase, FAD dependent amine oxidase gene DOID:10763 hypertension ISO RGD:1320337 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus Type 2; DNA:SNPs: : rs2296545,rs2576178 (human) PMID:21964580|REF_RGD_ID:7327172 12304826 RNLS renalase, FAD dependent amine oxidase gene DOID:10763 hypertension ISO RGD:1320337 D RGD:9068941 20200609 RGD associated with kidney Failure,Chronic;DNA:SNPs: : rs2576178, rs10887800 (human) PMID:21617193|REF_RGD_ID:7327173 12304826 RNLS renalase, FAD dependent amine oxidase gene DOID:10763 hypertension ISO RGD:1320338 D RGD:9068941 20200609 RGD PMID:21178975|REF_RGD_ID:7327174 12304826 RNLS renalase, FAD dependent amine oxidase gene DOID:10825 essential hypertension ISO RGD:1320337 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2576178, rs2296545,rs2114406 (human) PMID:17216203|REF_RGD_ID:7327177 12304826 RNLS renalase, FAD dependent amine oxidase gene DOID:6000 congestive heart failure ISO RGD:1309804 D RGD:9068941 20200609 RGD PMID:21297953|REF_RGD_ID:7327162 12304826 RNLS renalase, FAD dependent amine oxidase gene DOID:630 genetic disease ISO RGD:1320337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12304826 RNLS renalase, FAD dependent amine oxidase gene DOID:783 end stage renal disease ISO RGD:1320337 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Stage 5 chronic kidney disease PMID:28492532 12304826 RNLS renalase, FAD dependent amine oxidase gene DOID:784 chronic kidney disease ISO RGD:1309804 D RGD:9068941 20200609 RGD protein, activity:decreased expression:plasma, heart, kidney: PMID:18299506|REF_RGD_ID:7327164 12304826 RNLS renalase, FAD dependent amine oxidase gene DOID:9005539 Familial Prostate Cancer ISO RGD:1320337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12304826 RNLS renalase, FAD dependent amine oxidase gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1320337 D RGD:9068941 20200609 RGD PMID:23393318|REF_RGD_ID:7327166 12304826 RNLS renalase, FAD dependent amine oxidase gene DOID:9007096 Stroke ISO RGD:1320337 D RGD:9068941 20200609 RGD DNA:SNP: : rs10887800 (human) PMID:21964580|REF_RGD_ID:7327172 12304826 RNLS renalase, FAD dependent amine oxidase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1320337 D RGD:9068941 20200609 RGD PMID:21178975|REF_RGD_ID:7327174 12304826 RNLS renalase, FAD dependent amine oxidase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1320338 D RGD:9068941 20200609 RGD PMID:21178975|REF_RGD_ID:7327174 12304826 Rnls renalase, FAD-dependent amine oxidase gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1320338 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:kidney,plasma: PMID:23393318|REF_RGD_ID:7327166 12304848 CHAC2 ChaC glutathione specific gamma-glutamylcyclotransferase 2 gene DOID:630 genetic disease ISO RGD:1606619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12304860 ZNF16 zinc finger protein 16 gene DOID:630 genetic disease ISO RGD:1342906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12304879 KLC1 kinesin light chain 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1352040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12304879 KLC1 kinesin light chain 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1352040 D RGD:9068941 20200609 RGD DNA:SNP:intron:56836G>C (human) PMID:15364413|REF_RGD_ID:5684007 12304879 KLC1 kinesin light chain 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1352040 D RGD:9068941 20200609 RGD DNA:SNPs: :rs8007903, rs3212079 (human) PMID:19911314|REF_RGD_ID:5683908 12304879 KLC1 kinesin light chain 1 gene DOID:1612 breast cancer ISO RGD:1352040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to PMID:12023982 12304879 KLC1 kinesin light chain 1 gene DOID:2378 relapsing-remitting multiple sclerosis susceptibility ISO RGD:1352040 D RGD:9068941 20200609 RGD DNA:SNP:intron:56836G>C (rs8702) (human) PMID:17999208|REF_RGD_ID:5684008 12304879 KLC1 kinesin light chain 1 gene DOID:2394 ovarian cancer ISO RGD:1352040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 12304879 KLC1 kinesin light chain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1352040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 PMID:25741868 12304879 KLC1 kinesin light chain 1 gene DOID:630 genetic disease ISO RGD:1352040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12304879 KLC1 kinesin light chain 1 gene DOID:6846 familial melanoma ISO RGD:1352040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 6 PMID:11059748 12304879 KLC1 kinesin light chain 1 gene DOID:9001620 Leukoaraiosis ISO RGD:1352040 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphism:intron:5836G>C(human) PMID:17917076|REF_RGD_ID:5683912 12304879 KLC1 kinesin light chain 1 gene DOID:9001620 Leukoaraiosis ISO RGD:1352040 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphisms:5'utr:185A>C,406C>T (human) PMID:17977659|REF_RGD_ID:5683914 12304976 ANXA13 annexin A13 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1316801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12304976 ANXA13 annexin A13 gene DOID:630 genetic disease ISO RGD:1316801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305002 GNS glucosamine (N-acetyl)-6-sulfatase gene DOID:0111402 mucopolysaccharidosis type IIID ISO RGD:1314172 D RGD:7240710 20191106 OMIM 12305002 GNS glucosamine (N-acetyl)-6-sulfatase gene DOID:0111402 mucopolysaccharidosis type IIID ISO RGD:1314172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D PMID:12573255|PMID:12624138|PMID:16199547|PMID:16990043|PMID:17576681|PMID:17998446|PMID:19650410|PMID:19763152|PMID:20232353|PMID:20307669|PMID:22406018|PMID:25640679|PMID:25741868|PMID:28492532|PMID:30809705|PMID:3100754|PMID:34349725|PMID:6450420|PMID:9536098 12305002 GNS glucosamine (N-acetyl)-6-sulfatase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1314172 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sanfilippo syndrome PMID:16199547|PMID:17576681|PMID:20232353|PMID:25741868|PMID:28492532|PMID:9536098 12305002 GNS glucosamine (N-acetyl)-6-sulfatase gene DOID:12849 autistic disorder ISO RGD:1314172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:28492532 12305002 GNS glucosamine (N-acetyl)-6-sulfatase gene DOID:630 genetic disease ISO RGD:1314172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12305019 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1323692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 12305019 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1323692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 12305019 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1323692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 12305019 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:1059 intellectual disability ISO RGD:1323692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12305019 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:12712 nephronophthisis ISO RGD:1323692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 12305019 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1323692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 12305019 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:630 genetic disease ISO RGD:1323692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12305019 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9001793 Generalized Epilepsy ISO RGD:1323692 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 12305019 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9002232 Attenuated Adenomatous Polyposis Coli ISO RGD:1323692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenomatous polyposis coli, attenuated PMID:19617566|PMID:20551049|PMID:22461326|PMID:24038392|PMID:24357849|PMID:25741868|PMID:26467025|PMID:26845104|PMID:27153395|PMID:28492532|PMID:28944238|PMID:29095867|PMID:29596542|PMID:29749045|PMID:31548401|PMID:33193653 12305019 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:19617566|PMID:20551049|PMID:22461326|PMID:24038392|PMID:24357849|PMID:25741868|PMID:26467025|PMID:26845104|PMID:27153395|PMID:28166811|PMID:28492532|PMID:28944238|PMID:29095867|PMID:29546405|PMID:29596542|PMID:29749045|PMID:31548401|PMID:33193653|PMID:9536098 12305019 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:19617566|PMID:20551049|PMID:22461326|PMID:24038392|PMID:24357849|PMID:25637381|PMID:25741868|PMID:26021770|PMID:26467025|PMID:26845104|PMID:27153395|PMID:28166811|PMID:28492532|PMID:28944238|PMID:29095867|PMID:29546405|PMID:29596542|PMID:29749045|PMID:30886832|PMID:31263571|PMID:31548401|PMID:32963463|PMID:33193653|PMID:9536098 12305019 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1323692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12305019 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9008939 Breast Neoplasms ISO RGD:1323692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:25741868|PMID:28492532|PMID:29546405 12305019 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9256 colorectal cancer ISO RGD:1323692 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:19617566|PMID:20551049|PMID:22461326|PMID:24038392|PMID:24357849|PMID:25637381|PMID:25741868|PMID:26021770|PMID:26467025|PMID:26845104|PMID:27153395|PMID:28492532|PMID:28944238|PMID:29095867|PMID:29596542|PMID:29749045|PMID:31548401|PMID:33193653 12305019 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1323692 D RGD:7240710 20200226 OMIM 12305033 ABITRAM actin binding transcription modulator gene DOID:0080435 developmental and epileptic encephalopathy 37 ISO RGD:1352417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 PMID:28492532 12305033 ABITRAM actin binding transcription modulator gene DOID:630 genetic disease ISO RGD:1352417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305046 ABCE1 ATP binding cassette subfamily E member 1 gene DOID:10283 prostate cancer ISO RGD:1313249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12305046 ABCE1 ATP binding cassette subfamily E member 1 gene DOID:3459 breast carcinoma ISO RGD:1313249 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:23556449|REF_RGD_ID:11041882 12305046 ABCE1 ATP binding cassette subfamily E member 1 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1313249 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (human) PMID:18788636|REF_RGD_ID:11046260 12305046 ABCE1 ATP binding cassette subfamily E member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313249 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:19657357|REF_RGD_ID:11041871 12305046 ABCE1 ATP binding cassette subfamily E member 1 gene DOID:630 genetic disease ISO RGD:1313249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305046 ABCE1 ATP binding cassette subfamily E member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1313249 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:21932399|REF_RGD_ID:11041873 12305046 ABCE1 ATP binding cassette subfamily E member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313249 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12305046 ABCE1 ATP binding cassette subfamily E member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313249 D RGD:9068941 20200609 RGD mRNA:increased expression:colorectal mucosa (human) PMID:22294766|REF_RGD_ID:11041887 12305071 NDUFB7 NADH:ubiquinone oxidoreductase subunit B7 gene DOID:1596 depressive disorder susceptibility ISO RGD:1308550 D RGD:9068941 20200609 RGD PMID:22311638|REF_RGD_ID:13801196 12305071 NDUFB7 NADH:ubiquinone oxidoreductase subunit B7 gene DOID:630 genetic disease ISO RGD:1318388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305071 NDUFB7 NADH:ubiquinone oxidoreductase subunit B7 gene DOID:700 mitochondrial metabolism disease ISO RGD:1318388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes PMID:25741868|PMID:33502047 12305071 NDUFB7 NADH:ubiquinone oxidoreductase subunit B7 gene DOID:893 Wilson disease ISO RGD:1318388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 12305071 NDUFB7 NADH:ubiquinone oxidoreductase subunit B7 gene DOID:9007680 Nuclear Type Mitochondrial Complex I Deficiency 39 ISO RGD:1318388 D RGD:7240710 20221214 OMIM 12305071 NDUFB7 NADH:ubiquinone oxidoreductase subunit B7 gene DOID:9007680 Nuclear Type Mitochondrial Complex I Deficiency 39 ISO RGD:1318388 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 39 PMID:25741868|PMID:33502047 12305078 NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1353803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 12305078 NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:0112094 nuclear type mitochondrial complex I deficiency 14 ISO RGD:1353803 D RGD:7240710 20190315 OMIM 12305078 NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:0112094 nuclear type mitochondrial complex I deficiency 14 ISO RGD:1353803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 PMID:17576681|PMID:18306244|PMID:25741868|PMID:28492532|PMID:32712949|PMID:9536098 12305078 NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:630 genetic disease ISO RGD:1353803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12305086 ASIC1 acid sensing ion channel subunit 1 gene DOID:1826 epilepsy ISO RGD:731360 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12305086 ASIC1 acid sensing ion channel subunit 1 gene DOID:2316 brain ischemia ISO RGD:731360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21307247 12305086 ASIC1 acid sensing ion channel subunit 1 gene DOID:630 genetic disease ISO RGD:731360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305086 ASIC1 acid sensing ion channel subunit 1 gene DOID:9000998 Brain Injuries ISO RGD:731360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21307247 12305086 ASIC1 acid sensing ion channel subunit 1 gene DOID:9005372 Inflammation ISO RGD:731360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11588175 12305105 WDR11 WD repeat domain 11 gene DOID:0050834 CHARGE syndrome ISO RGD:1318273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:25741868|PMID:30711679 12305105 WDR11 WD repeat domain 11 gene DOID:0060340 ciliopathy ISO RGD:1618197 D RGD:9068941 20220825 MouseDO 12305105 WDR11 WD repeat domain 11 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1318273 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:20887964|PMID:25741868|PMID:28492532 12305105 WDR11 WD repeat domain 11 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1318273 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25741868|PMID:28492532 12305105 WDR11 WD repeat domain 11 gene DOID:0090087 hypogonadotropic hypogonadism 14 with or without anosmia ISO RGD:1318273 D RGD:7240710 20180130 OMIM 12305105 WDR11 WD repeat domain 11 gene DOID:0090087 hypogonadotropic hypogonadism 14 with or without anosmia ISO RGD:1318273 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 14 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 14 with or without anosmia PMID:20887964|PMID:25741868|PMID:28492532|PMID:29263200 12305105 WDR11 WD repeat domain 11 gene DOID:10907 microcephaly ISO RGD:1318273 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:34413497 12305105 WDR11 WD repeat domain 11 gene DOID:13938 amenorrhea ISO RGD:1318273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 12305105 WDR11 WD repeat domain 11 gene DOID:1921 Klinefelter syndrome ISO RGD:1318273 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:20887964|PMID:25741868|PMID:28492532 12305105 WDR11 WD repeat domain 11 gene DOID:303 substance-related disorder ISO RGD:1318273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12305105 WDR11 WD repeat domain 11 gene DOID:3614 Kallmann syndrome ISO RGD:1618197 D RGD:9068941 20220825 MouseDO 12305105 WDR11 WD repeat domain 11 gene DOID:5419 schizophrenia ISO RGD:1318273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12305105 WDR11 WD repeat domain 11 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12305105 WDR11 WD repeat domain 11 gene DOID:630 genetic disease ISO RGD:1318273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12305105 WDR11 WD repeat domain 11 gene DOID:9002963 Autosomal Recessive Intellectual Developmental Disorder 78 ISO RGD:1318273 D RGD:7240710 20230215 OMIM 12305105 WDR11 WD repeat domain 11 gene DOID:9002963 Autosomal Recessive Intellectual Developmental Disorder 78 ISO RGD:1318273 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 78 PMID:25741868|PMID:34413497 12305138 CSPP1 centrosome and spindle pole associated protein 1 gene DOID:0050778 Meckel syndrome ISO RGD:1605630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:24360803|PMID:25558065|PMID:25741868 12305138 CSPP1 centrosome and spindle pole associated protein 1 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1605630 D RGD:7240710 20180130 OMIM 12305138 CSPP1 centrosome and spindle pole associated protein 1 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1605630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:16199547|PMID:17576681|PMID:20301500|PMID:24033266|PMID:24360803|PMID:24360807|PMID:24360808|PMID:25558065|PMID:25640679|PMID:25741868|PMID:26092869|PMID:27434533|PMID:27894351|PMID:28125082|PMID:28492532|PMID:29706646|PMID:9536098 12305138 CSPP1 centrosome and spindle pole associated protein 1 gene DOID:10907 microcephaly ISO RGD:1605630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12305138 CSPP1 centrosome and spindle pole associated protein 1 gene DOID:630 genetic disease ISO RGD:1605630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12305138 CSPP1 centrosome and spindle pole associated protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1605630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 12305184 SPPL2A signal peptide peptidase like 2A gene DOID:0110803 hereditary spastic paraplegia 51 ISO RGD:1602994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 PMID:20972249 12305184 SPPL2A signal peptide peptidase like 2A gene DOID:2717 Bloom syndrome ISO RGD:1602994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12305184 SPPL2A signal peptide peptidase like 2A gene DOID:607 paraplegia ISO RGD:1602994 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 12305184 SPPL2A signal peptide peptidase like 2A gene DOID:630 genetic disease ISO RGD:1602994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12305184 SPPL2A signal peptide peptidase like 2A gene DOID:9000868 Immunodeficiency 86 ISO RGD:1602994 D RGD:7240710 20211020 OMIM 12305184 SPPL2A signal peptide peptidase like 2A gene DOID:9000868 Immunodeficiency 86 ISO RGD:1602994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 86 PMID:23472171|PMID:30127434 12305184 SPPL2A signal peptide peptidase like 2A gene DOID:9256 colorectal cancer ISO RGD:1602994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12305208 TBC1D19 TBC1 domain family member 19 gene DOID:630 genetic disease ISO RGD:1343247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305232 NUFIP2 nuclear FMR1 interacting protein 2 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1606255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 12305232 NUFIP2 nuclear FMR1 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1606255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305240 TRAF2 TNF receptor associated factor 2 gene DOID:0050777 Joubert syndrome ISO RGD:1321367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12305240 TRAF2 TNF receptor associated factor 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1321367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12305240 TRAF2 TNF receptor associated factor 2 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1321367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12305240 TRAF2 TNF receptor associated factor 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1321367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12305240 TRAF2 TNF receptor associated factor 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12305240 TRAF2 TNF receptor associated factor 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1321367 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12305240 TRAF2 TNF receptor associated factor 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1321367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12305240 TRAF2 TNF receptor associated factor 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1321367 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12305240 TRAF2 TNF receptor associated factor 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1321367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12305240 TRAF2 TNF receptor associated factor 2 gene DOID:1826 epilepsy ISO RGD:1321367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12305240 TRAF2 TNF receptor associated factor 2 gene DOID:3652 Leigh disease ISO RGD:1321367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12305240 TRAF2 TNF receptor associated factor 2 gene DOID:630 genetic disease ISO RGD:1321367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305240 TRAF2 TNF receptor associated factor 2 gene DOID:9004283 Transplant Rejection treatment ISO RGD:1310457 D RGD:9068941 20200709 RGD PMID:31828147|REF_RGD_ID:35316072 12305240 TRAF2 TNF receptor associated factor 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1321367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12305262 PTBP3 polypyrimidine tract binding protein 3 gene DOID:630 genetic disease ISO RGD:732344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305279 IFRD1 interferon related developmental regulator 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:69163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:19409521 12305279 IFRD1 interferon related developmental regulator 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:69163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12305279 IFRD1 interferon related developmental regulator 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12305279 IFRD1 interferon related developmental regulator 1 gene DOID:5419 schizophrenia ISO RGD:69163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12305279 IFRD1 interferon related developmental regulator 1 gene DOID:630 genetic disease ISO RGD:69163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305279 IFRD1 interferon related developmental regulator 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12305279 IFRD1 interferon related developmental regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12305295 STK40 serine/threonine kinase 40 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12305295 STK40 serine/threonine kinase 40 gene DOID:630 genetic disease ISO RGD:1605028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305339 PPP1R37 protein phosphatase 1 regulatory subunit 37 gene DOID:630 genetic disease ISO RGD:2293904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305356 EFHB EF-hand domain family member B gene DOID:0060417 3p deletion syndrome ISO RGD:1349676 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12305356 EFHB EF-hand domain family member B gene DOID:630 genetic disease ISO RGD:1349676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305379 NDEL1 nudE neurodevelopment protein 1 like 1 gene DOID:5419 schizophrenia ISO RGD:1352165 D RGD:9068941 20200609 RGD mRNA:decreased expression:hipocampus,dorsolateral prefrontal cortex: PMID:16510495|REF_RGD_ID:12790585 12305379 NDEL1 nudE neurodevelopment protein 1 like 1 gene DOID:630 genetic disease ISO RGD:1352165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305379 NDEL1 nudE neurodevelopment protein 1 like 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1352165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12305406 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:0050477 Liddle syndrome ISO RGD:11272 D RGD:9068941 20200609 RGD PMID:10589691|REF_RGD_ID:737753 12305406 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:0050477 Liddle syndrome ISO RGD:11272 D RGD:9068941 20220825 MouseDO OMIM:177200 12305406 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:0050477 Liddle syndrome ISO RGD:734263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18398334|PMID:19344079 12305406 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:0060041 autism spectrum disorder ISO RGD:734263 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12305406 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 ISO RGD:734263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 PMID:10523338|PMID:11439319|PMID:15661075|PMID:16207733|PMID:18507830|PMID:19017867|PMID:19462466|PMID:21504729|PMID:24033266|PMID:25333069|PMID:25741868|PMID:25900089|PMID:26038974|PMID:26467025|PMID:28492532|PMID:29580127|PMID:8589714|PMID:9118951|PMID:9576123|PMID:9674649 12305406 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:734263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 12305406 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:0080526 bronchiectasis 1 ISO RGD:734263 D RGD:7240710 20180130 OMIM 12305406 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:0080526 bronchiectasis 1 ISO RGD:734263 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 PMID:10362597|PMID:10523338|PMID:11439319|PMID:11478429|PMID:14645220|PMID:15661075|PMID:16207733|PMID:18507830|PMID:19017867|PMID:19462466|PMID:21504729|PMID:24033266|PMID:24093724|PMID:24474657|PMID:25333069|PMID:25741868|PMID:25900089|PMID:26038974|PMID:26075967|PMID:26467025|PMID:27582106|PMID:27896928|PMID:27900368|PMID:28492532|PMID:28915228|PMID:29580127|PMID:34076240|PMID:7777572|PMID:7954808|PMID:8589714|PMID:9118951|PMID:9576123|PMID:9674649 12305406 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:0080760 Fanconi renotubular syndrome 4 ISO RGD:734263 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young PMID:25741868 12305406 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:10763 hypertension ISO RGD:734263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15174897|PMID:15198480|PMID:19344079 12305406 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:1184 nephrotic syndrome ISO RGD:3640 D RGD:9068941 20200609 RGD PMID:15075188|REF_RGD_ID:1624161 12305406 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:1485 cystic fibrosis ISO RGD:11272 D RGD:9068941 20220825 MouseDO OMIM:219700 12305406 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:1485 cystic fibrosis ISO RGD:734263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16207733|PMID:16463024 12305406 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:2320 obstructive lung disease ISO RGD:734263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27982104 12305406 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:4479 pseudohypoaldosteronism ISO RGD:734263 D RGD:9068941 20200609 RGD PHA type I,OMIM:264350;DNA:point mutation:exon:G37S PMID:8589714|REF_RGD_ID:1624117 12305406 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:5419 schizophrenia ISO RGD:734263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12305406 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:630 genetic disease ISO RGD:734263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12305406 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:850 lung disease ISO RGD:734263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16207733 12305406 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:9000057 Pseudohypoaldosteronism Type IB2, Autosomal Recessive ISO RGD:734263 D RGD:7240710 20221214 OMIM 12305406 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:9000057 Pseudohypoaldosteronism Type IB2, Autosomal Recessive ISO RGD:734263 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB2, autosomal recessive PMID:21504729|PMID:8589714|PMID:9118951 12305406 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:9001087 Opsoclonus-Myoclonus Syndrome ISO RGD:734263 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome 12305406 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:9005031 Liddle Syndrome 1 ISO RGD:734263 D RGD:7240710 20190320 OMIM 12305406 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:9005031 Liddle Syndrome 1 ISO RGD:734263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Liddle syndrome 1 PMID:10362597|PMID:10523338|PMID:11439319|PMID:11478429|PMID:14645220|PMID:15483078|PMID:15661075|PMID:16207733|PMID:18398334|PMID:18507830|PMID:19017867|PMID:19462466|PMID:21504729|PMID:21525970|PMID:22809657|PMID:24033266|PMID:24093724|PMID:24474657|PMID:25210634|PMID:25333069|PMID:25741868|PMID:25900089|PMID:26038974|PMID:26075967|PMID:26467025|PMID:27896928|PMID:27900368|PMID:28236585|PMID:28492532|PMID:28915228|PMID:29580127|PMID:7777572|PMID:7954808|PMID:8524790|PMID:8589714|PMID:8601645|PMID:9100575|PMID:9118951|PMID:9350583|PMID:9576123|PMID:9626162|PMID:9674649 12305406 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:9008622 Adrenal Insufficiency ISO RGD:734263 D RGD:9068941 20200609 RGD Liddle syndrome, OMIM:177200;DNA:point mutation:exon:R564X PMID:7954808|REF_RGD_ID:1624136 12305406 SCNN1B sodium channel epithelial 1 subunit beta gene DOID:9675 pulmonary emphysema ISO RGD:734263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27982104 12305426 BRINP2 BMP/retinoic acid inducible neural specific 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1605645 D RGD:9068941 20200609 RGD DNA:amplication:oral epithelium PMID:21334929|REF_RGD_ID:14398483 12305426 BRINP2 BMP/retinoic acid inducible neural specific 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1605645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12305426 BRINP2 BMP/retinoic acid inducible neural specific 2 gene DOID:630 genetic disease ISO RGD:1605645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305426 BRINP2 BMP/retinoic acid inducible neural specific 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12305426 BRINP2 BMP/retinoic acid inducible neural specific 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12305441 CLK2 CDC like kinase 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1343354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12305441 CLK2 CDC like kinase 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1343354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12305441 CLK2 CDC like kinase 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1343354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12305441 CLK2 CDC like kinase 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1343354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12305441 CLK2 CDC like kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1343354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12305441 CLK2 CDC like kinase 2 gene DOID:5812 MHC class II deficiency ISO RGD:1343354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12305441 CLK2 CDC like kinase 2 gene DOID:630 genetic disease ISO RGD:1343354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305441 CLK2 CDC like kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060001 withdrawal disorder ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18184829 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060041 autism spectrum disorder ISO RGD:735795 D RGD:9068941 20220825 MouseDO 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060257 dyschromatosis symmetrica hereditaria ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities PMID:22974014|PMID:28492532 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:733218 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy PMID:11062464|PMID:11104662|PMID:11906688|PMID:17576681|PMID:18414213|PMID:20736995|PMID:21703448|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:733218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy PMID:11062464|PMID:11104662|PMID:11906688|PMID:16199547|PMID:17576681|PMID:17900292|PMID:18414213|PMID:18456869|PMID:20736995|PMID:21703448|PMID:22036597|PMID:25741868|PMID:26467025|PMID:26475232|PMID:28488083|PMID:28492532|PMID:9536098 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060684 autosomal dominant nocturnal frontal lobe epilepsy 3 ISO RGD:733218 D RGD:7240710 20180130 OMIM 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060684 autosomal dominant nocturnal frontal lobe epilepsy 3 ISO RGD:733218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 3 PMID:11062464|PMID:11094099|PMID:11104662|PMID:11906688|PMID:17576681|PMID:17900292|PMID:18414213|PMID:18456869|PMID:20736995|PMID:21703448|PMID:22036597|PMID:25741868|PMID:26467025|PMID:26475232|PMID:28492532|PMID:9536098 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:733218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:11062464|PMID:11104662|PMID:11906688|PMID:16199547|PMID:17576681|PMID:17900292|PMID:18414213|PMID:18456869|PMID:20736995|PMID:21703448|PMID:22036597|PMID:25741868|PMID:26467025|PMID:26475232|PMID:28488083|PMID:28492532|PMID:9536098 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0111940 immunodeficiency 42 ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:733218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:1059 intellectual disability ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:10652 Alzheimer's disease ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21748252 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:735795 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:12849 autistic disorder ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15046869 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:1540 parathyroid carcinoma ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:1826 epilepsy ISO RGD:733218 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Generalized-onset seizure | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26475232|PMID:28492532 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:2030 anxiety disorder ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23419392 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:3327 partial motor epilepsy ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal clonic seizure PMID:25741868 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:3331 frontal lobe epilepsy ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14996991 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:535 sleep disorder ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12228730 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:5812 MHC class II deficiency ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:630 genetic disease ISO RGD:733218 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11906688|PMID:17576681|PMID:18414213|PMID:20736995|PMID:21703448|PMID:25741868|PMID:26467025|PMID:26475232|PMID:28488083|PMID:28492532|PMID:9536098 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:9002395 Hypothermia ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14982698 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:9002955 Nerve Degeneration ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21715663 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:9005219 Abnormal Reflexes ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23419392 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:9005372 Inflammation ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20943775 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:9007 sudden infant death syndrome ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22000980 12305471 CHRNB2 cholinergic receptor nicotinic beta 2 subunit gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12305485 SPPL2C signal peptide peptidase like 2C gene DOID:0050880 Koolen de Vries syndrome ISO RGD:1606947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Koolen-de Vries syndrome PMID:18628315|PMID:21094706|PMID:28492532 12305485 SPPL2C signal peptide peptidase like 2C gene DOID:1059 intellectual disability ISO RGD:1606947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12305485 SPPL2C signal peptide peptidase like 2C gene DOID:630 genetic disease ISO RGD:1606947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305485 SPPL2C signal peptide peptidase like 2C gene DOID:9255 frontotemporal dementia ISO RGD:1606947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:18628315|PMID:21094706|PMID:28492532 12305494 NEMP1 nuclear envelope integral membrane protein 1 gene DOID:630 genetic disease ISO RGD:1603697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305506 DHX58 DExH-box helicase 58 gene DOID:630 genetic disease ISO RGD:1603964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305530 NNAT neuronatin gene DOID:2234 focal epilepsy ISO RGD:730841 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12305530 NNAT neuronatin gene DOID:3908 lung non-small cell carcinoma ISO RGD:730841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043644 12305530 NNAT neuronatin gene DOID:630 genetic disease ISO RGD:730841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305530 NNAT neuronatin gene DOID:769 neuroblastoma ISO RGD:730841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17762496 12305530 NNAT neuronatin gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:730841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 12305540 FAM133B family with sequence similarity 133 member B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12305540 FAM133B family with sequence similarity 133 member B gene DOID:630 genetic disease ISO RGD:1606931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305558 COPS7B COP9 signalosome subunit 7B gene DOID:0060476 Perlman syndrome ISO RGD:1315805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12305558 COPS7B COP9 signalosome subunit 7B gene DOID:0080006 bone development disease ISO RGD:1315805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 12305558 COPS7B COP9 signalosome subunit 7B gene DOID:0110991 Joubert syndrome 22 ISO RGD:1315805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12305558 COPS7B COP9 signalosome subunit 7B gene DOID:630 genetic disease ISO RGD:1315805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305575 PTGDR prostaglandin D2 receptor gene DOID:0080600 COVID-19 ISO RGD:1349248 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12305575 PTGDR prostaglandin D2 receptor gene DOID:2841 asthma ISO RGD:1349248 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12305575 PTGDR prostaglandin D2 receptor gene DOID:2841 asthma susceptibility ISO RGD:1349248 D RGD:7240710 20190502 OMIM 12305575 PTGDR prostaglandin D2 receptor gene DOID:630 genetic disease ISO RGD:1349248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305581 CDX1 caudal type homeobox 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321203 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12305581 CDX1 caudal type homeobox 1 gene DOID:630 genetic disease ISO RGD:1321203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305581 CDX1 caudal type homeobox 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321203 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12305587 SLC4A5 solute carrier family 4 member 5 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:731047 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12305587 SLC4A5 solute carrier family 4 member 5 gene DOID:543 dystonia ISO RGD:731047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12305587 SLC4A5 solute carrier family 4 member 5 gene DOID:630 genetic disease ISO RGD:731047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305587 SLC4A5 solute carrier family 4 member 5 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:731047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12305637 DEFB105A defensin, beta 105A gene DOID:630 genetic disease ISO RGD:1344017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305642 ZBED6 zinc finger BED-type containing 6 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:3322020 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12305642 ZBED6 zinc finger BED-type containing 6 gene DOID:1540 parathyroid carcinoma ISO RGD:3322020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12305642 ZBED6 zinc finger BED-type containing 6 gene DOID:630 genetic disease ISO RGD:3322020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305642 ZBED6 zinc finger BED-type containing 6 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:3322020 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12305642 ZBED6 zinc finger BED-type containing 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:3322020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12305654 TAF1B TATA-box binding protein associated factor, RNA polymerase I subunit B gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1314966 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 12305654 TAF1B TATA-box binding protein associated factor, RNA polymerase I subunit B gene DOID:3883 Lynch syndrome ISO RGD:1314966 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 12305654 TAF1B TATA-box binding protein associated factor, RNA polymerase I subunit B gene DOID:630 genetic disease ISO RGD:1314966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305715 SLC47A1 solute carrier family 47 member 1 gene DOID:0050777 Joubert syndrome ISO RGD:1605371 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12305715 SLC47A1 solute carrier family 47 member 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1605371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12305715 SLC47A1 solute carrier family 47 member 1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1605371 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12305715 SLC47A1 solute carrier family 47 member 1 gene DOID:12849 autistic disorder ISO RGD:1605371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12305715 SLC47A1 solute carrier family 47 member 1 gene DOID:557 kidney disease ISO RGD:1605371 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:24001450|PMID:35710981 12305715 SLC47A1 solute carrier family 47 member 1 gene DOID:630 genetic disease ISO RGD:1605371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305715 SLC47A1 solute carrier family 47 member 1 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1605371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 12305759 APELA apelin receptor early endogenous ligand gene DOID:10591 pre-eclampsia ISO RGD:1624719 D RGD:9068941 20220825 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 12305808 P2RX7 purinergic receptor P2X 7 gene DOID:14213 hypophosphatasia ISO RGD:730814 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27466191 12305808 P2RX7 purinergic receptor P2X 7 gene DOID:2377 multiple sclerosis ISO RGD:730814 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17728465 12305808 P2RX7 purinergic receptor P2X 7 gene DOID:3328 temporal lobe epilepsy ISO RGD:730814 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12121326|PMID:19084381 12305808 P2RX7 purinergic receptor P2X 7 gene DOID:5082 liver cirrhosis ISO RGD:730814 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32721574 12305808 P2RX7 purinergic receptor P2X 7 gene DOID:630 genetic disease ISO RGD:730814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305808 P2RX7 purinergic receptor P2X 7 gene DOID:9000039 Spinal Cord Injuries ISO RGD:730814 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15258577 12305808 P2RX7 purinergic receptor P2X 7 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:730814 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11003599 12305808 P2RX7 purinergic receptor P2X 7 gene DOID:9006205 Animal Disease Models ISO RGD:730814 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27466191 12305831 LSM10 LSM10, U7 small nuclear RNA associated gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1350873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12305831 LSM10 LSM10, U7 small nuclear RNA associated gene DOID:0111406 Fraser syndrome 3 ISO RGD:1350873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 12305831 LSM10 LSM10, U7 small nuclear RNA associated gene DOID:630 genetic disease ISO RGD:1350873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305837 SENP1 SUMO specific peptidase 1 gene DOID:2349 arteriosclerosis ISO RGD:1321080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 12305837 SENP1 SUMO specific peptidase 1 gene DOID:865 vasculitis ISO RGD:1321080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 12305837 SENP1 SUMO specific peptidase 1 gene DOID:9002514 Neointima ISO RGD:1321080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 12305837 SENP1 SUMO specific peptidase 1 gene DOID:9004771 Vascular Remodeling ISO RGD:1321080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 12305837 SENP1 SUMO specific peptidase 1 gene DOID:9006709 Primary Graft Dysfunction ISO RGD:1321080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 12305837 SENP1 SUMO specific peptidase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1321081 D RGD:9068941 20220825 MouseDO OMIM:222100 12305873 OGDHL oxoglutarate dehydrogenase L gene DOID:11372 megacolon ISO RGD:1322096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12305873 OGDHL oxoglutarate dehydrogenase L gene DOID:1596 depressive disorder ISO RGD:1322096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Depression PMID:28017472 12305873 OGDHL oxoglutarate dehydrogenase L gene DOID:5419 schizophrenia ISO RGD:1322096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12305873 OGDHL oxoglutarate dehydrogenase L gene DOID:6000 congestive heart failure ISO RGD:1322096 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12305873 OGDHL oxoglutarate dehydrogenase L gene DOID:630 genetic disease ISO RGD:1322096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28097321 12305873 OGDHL oxoglutarate dehydrogenase L gene DOID:9004385 YOON-BELLEN NEURODEVELOPMENTAL SYNDROME ISO RGD:1322096 D RGD:7240710 20220406 OMIM 12305873 OGDHL oxoglutarate dehydrogenase L gene DOID:9004385 YOON-BELLEN NEURODEVELOPMENTAL SYNDROME ISO RGD:1322096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Yoon-Bellen neurodevelopmental syndrome PMID:26539891|PMID:28017472|PMID:34800363 12305906 LDB1 LIM domain binding 1 gene DOID:630 genetic disease ISO RGD:1321219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305906 LDB1 LIM domain binding 1 gene DOID:9467 nail-patella syndrome ISO RGD:1321220 D RGD:9068941 20220825 MouseDO OMIM:161200 12305931 ENPEP glutamyl aminopeptidase gene DOID:630 genetic disease ISO RGD:732266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305931 ENPEP glutamyl aminopeptidase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12305931 ENPEP glutamyl aminopeptidase gene DOID:9002165 Diabetic Nephropathies ISO RGD:732266 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:28468961 12305955 ABCF3 ATP binding cassette subfamily F member 3 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1321386 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12305955 ABCF3 ATP binding cassette subfamily F member 3 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1321386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12305955 ABCF3 ATP binding cassette subfamily F member 3 gene DOID:0111546 Currarino syndrome ISO RGD:1321386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12305955 ABCF3 ATP binding cassette subfamily F member 3 gene DOID:10283 prostate cancer ISO RGD:1321386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12305955 ABCF3 ATP binding cassette subfamily F member 3 gene DOID:630 genetic disease ISO RGD:1321386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305980 TNFRSF14 TNF receptor superfamily member 14 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1320832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12305980 TNFRSF14 TNF receptor superfamily member 14 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1320832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12305980 TNFRSF14 TNF receptor superfamily member 14 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1320832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12305980 TNFRSF14 TNF receptor superfamily member 14 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1320832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12305980 TNFRSF14 TNF receptor superfamily member 14 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1320832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12305980 TNFRSF14 TNF receptor superfamily member 14 gene DOID:0111934 immunodeficiency 38 ISO RGD:1320832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12305980 TNFRSF14 TNF receptor superfamily member 14 gene DOID:0111935 immunodeficiency 16 ISO RGD:1320832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12305980 TNFRSF14 TNF receptor superfamily member 14 gene DOID:10608 celiac disease ISO RGD:1320832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 12305980 TNFRSF14 TNF receptor superfamily member 14 gene DOID:2349 arteriosclerosis ISO RGD:1320832 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery, atherosclerotic lesions (human) PMID:11742877|REF_RGD_ID:2317295 12305980 TNFRSF14 TNF receptor superfamily member 14 gene DOID:5844 myocardial infarction ISO RGD:1310115 D RGD:9068941 20200609 RGD protein:increased expression:heart, cardiomyocyte, endothelial cell (rat) PMID:18353719|REF_RGD_ID:2317281 12305980 TNFRSF14 TNF receptor superfamily member 14 gene DOID:630 genetic disease ISO RGD:1320832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12305980 TNFRSF14 TNF receptor superfamily member 14 gene DOID:7148 rheumatoid arthritis ISO RGD:1320832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842 12305980 TNFRSF14 TNF receptor superfamily member 14 gene DOID:9000998 Brain Injuries ISO RGD:1320832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 12305980 TNFRSF14 TNF receptor superfamily member 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12305980 TNFRSF14 TNF receptor superfamily member 14 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1320832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12305980 TNFRSF14 TNF receptor superfamily member 14 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1320832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12306011 UXT ubiquitously expressed prefoldin like chaperone gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12306011 UXT ubiquitously expressed prefoldin like chaperone gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 12306011 UXT ubiquitously expressed prefoldin like chaperone gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12306011 UXT ubiquitously expressed prefoldin like chaperone gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12306011 UXT ubiquitously expressed prefoldin like chaperone gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12306011 UXT ubiquitously expressed prefoldin like chaperone gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347196 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12306011 UXT ubiquitously expressed prefoldin like chaperone gene DOID:12849 autistic disorder ISO RGD:1347196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12306011 UXT ubiquitously expressed prefoldin like chaperone gene DOID:630 genetic disease ISO RGD:1347196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306011 UXT ubiquitously expressed prefoldin like chaperone gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347196 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19318562 12306025 EVPL envoplakin gene DOID:630 genetic disease ISO RGD:1314586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306063 RAD9A RAD9 checkpoint clamp component A gene DOID:1059 intellectual disability ISO RGD:1321649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12306063 RAD9A RAD9 checkpoint clamp component A gene DOID:630 genetic disease ISO RGD:1321649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306063 RAD9A RAD9 checkpoint clamp component A gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1321649 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12306063 RAD9A RAD9 checkpoint clamp component A gene DOID:9005715 Neoplasms, Second Primary ISO RGD:1321649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21991345 12306063 RAD9A RAD9 checkpoint clamp component A gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1321649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12306077 KLK10 kallikrein related peptidase 10 gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:1606032 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast PMID:12788170|REF_RGD_ID:2314849 12306077 KLK10 kallikrein related peptidase 10 gene DOID:10283 prostate cancer susceptibility ISO RGD:1606032 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.A50S (human) PMID:11920956|REF_RGD_ID:2314851 12306077 KLK10 kallikrein related peptidase 10 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1606032 D RGD:9068941 20200609 RGD PMID:18766180|REF_RGD_ID:2314846 12306077 KLK10 kallikrein related peptidase 10 gene DOID:363 uterine cancer ISO RGD:1606032 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:endometrium, serum PMID:16647913|REF_RGD_ID:2314848 12306077 KLK10 kallikrein related peptidase 10 gene DOID:630 genetic disease ISO RGD:1606032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306077 KLK10 kallikrein related peptidase 10 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17182177 12306077 KLK10 kallikrein related peptidase 10 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1606032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20686372 12306077 KLK10 kallikrein related peptidase 10 gene DOID:9003281 Spontaneous Abortions ISO RGD:1606032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12306077 KLK10 kallikrein related peptidase 10 gene DOID:9004207 Testicular Neoplasms ISO RGD:1606032 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:testis PMID:11920956|REF_RGD_ID:2314851 12306077 KLK10 kallikrein related peptidase 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1606032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16800735 12306077 KLK10 kallikrein related peptidase 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1606032 D RGD:9068941 20200609 RGD PMID:17585892|REF_RGD_ID:2314847 12306077 KLK10 kallikrein related peptidase 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1606032 D RGD:9068941 20200609 RGD DNA:hypermethylation:exon (human) PMID:19150938|REF_RGD_ID:2314845 12306077 KLK10 kallikrein related peptidase 10 gene DOID:9008939 Breast Neoplasms severity ISO RGD:1606032 D RGD:9068941 20200609 RGD PMID:12087468|REF_RGD_ID:2314850 12306089 SLC30A10 solute carrier family 30 member 10 gene DOID:0050439 Usher syndrome ISO RGD:1604615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 12306089 SLC30A10 solute carrier family 30 member 10 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1604615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12306089 SLC30A10 solute carrier family 30 member 10 gene DOID:0080536 hypermanganesemia with dystonia 1 ISO RGD:1604615 D RGD:7240710 20180130 OMIM 12306089 SLC30A10 solute carrier family 30 member 10 gene DOID:0080536 hypermanganesemia with dystonia 1 ISO RGD:1604615 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypermanganesemia with dystonia, polycythemia, and cirrhosis PMID:11040156|PMID:18392750|PMID:22341971|PMID:22341972|PMID:22934317|PMID:25741868|PMID:27117033|PMID:28492532|PMID:30272946|PMID:31594250|PMID:34315874 12306089 SLC30A10 solute carrier family 30 member 10 gene DOID:0080855 Parkinsonism ISO RGD:1604615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26220508 12306089 SLC30A10 solute carrier family 30 member 10 gene DOID:13580 cholestasis ISO RGD:1604615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12306089 SLC30A10 solute carrier family 30 member 10 gene DOID:14330 Parkinson's disease ISO RGD:1604615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25149416 12306089 SLC30A10 solute carrier family 30 member 10 gene DOID:1459 hypothyroidism ISO RGD:1604615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28860195 12306089 SLC30A10 solute carrier family 30 member 10 gene DOID:1540 parathyroid carcinoma ISO RGD:1604615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12306089 SLC30A10 solute carrier family 30 member 10 gene DOID:5082 liver cirrhosis ISO RGD:1604615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22926781 12306089 SLC30A10 solute carrier family 30 member 10 gene DOID:543 dystonia ISO RGD:1604615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22926781 12306089 SLC30A10 solute carrier family 30 member 10 gene DOID:630 genetic disease ISO RGD:1604615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12306089 SLC30A10 solute carrier family 30 member 10 gene DOID:8432 polycythemia ISO RGD:1604615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22926781 12306089 SLC30A10 solute carrier family 30 member 10 gene DOID:9000304 Manganese Poisoning ISO RGD:1604615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28860195|PMID:29429640 12306089 SLC30A10 solute carrier family 30 member 10 gene DOID:9006949 Martsolf Syndrome ISO RGD:1604615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 12306089 SLC30A10 solute carrier family 30 member 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12306098 HDAC5 histone deacetylase 5 gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1604649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 12306098 HDAC5 histone deacetylase 5 gene DOID:14557 primary pulmonary hypertension ISO RGD:1604649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22711276 12306098 HDAC5 histone deacetylase 5 gene DOID:1596 depressive disorder ISO RGD:619980 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:24495952|REF_RGD_ID:9681459 12306098 HDAC5 histone deacetylase 5 gene DOID:3021 acute kidney failure ISO RGD:619980 D RGD:9068941 20200609 RGD PMID:21416250|REF_RGD_ID:10047111 12306098 HDAC5 histone deacetylase 5 gene DOID:3021 acute kidney failure treatment ISO RGD:1551616 D RGD:9068941 20200609 RGD associated with sepsis; PMID:22933299|REF_RGD_ID:9590257 12306098 HDAC5 histone deacetylase 5 gene DOID:3312 bipolar disorder ISO RGD:1604649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12306098 HDAC5 histone deacetylase 5 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:619980 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:brain: PMID:23480850|REF_RGD_ID:9681449 12306098 HDAC5 histone deacetylase 5 gene DOID:418 systemic scleroderma ISO RGD:1604649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27482699 12306098 HDAC5 histone deacetylase 5 gene DOID:507 adjustment disorder ISO RGD:1604649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17988634 12306098 HDAC5 histone deacetylase 5 gene DOID:630 genetic disease ISO RGD:1604649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306098 HDAC5 histone deacetylase 5 gene DOID:6432 pulmonary hypertension ISO RGD:1604649 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:22711276|REF_RGD_ID:9590133 12306098 HDAC5 histone deacetylase 5 gene DOID:6432 pulmonary hypertension ISO RGD:619980 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:22711276|REF_RGD_ID:9590133 12306098 HDAC5 histone deacetylase 5 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1551616 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:24717296|REF_RGD_ID:9590311 12306098 HDAC5 histone deacetylase 5 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1604649 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:24717296|REF_RGD_ID:9590311 12306098 HDAC5 histone deacetylase 5 gene DOID:9002165 Diabetic Nephropathies ISO RGD:619980 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:24717296|REF_RGD_ID:9590311 12306098 HDAC5 histone deacetylase 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1604649 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17988634 12306098 HDAC5 histone deacetylase 5 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:619980 D RGD:9068941 20200609 RGD protein:increased expression:Right Ventricular: PMID:22711276|REF_RGD_ID:9590133 12306098 HDAC5 histone deacetylase 5 gene DOID:9256 colorectal cancer ISO RGD:1604649 D RGD:9068941 20200609 RGD mRNA:increased expression:colon: PMID:23724067|REF_RGD_ID:9590193 12306145 CCDC115 coiled-coil domain containing 115 gene DOID:0070267 congenital disorder of glycosylation type IIo ISO RGD:1603946 D RGD:7240710 20190315 OMIM 12306145 CCDC115 coiled-coil domain containing 115 gene DOID:0070267 congenital disorder of glycosylation type IIo ISO RGD:1603946 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CCDC115-CDG PMID:24033266|PMID:25741868|PMID:26833330|PMID:26833332|PMID:28492532|PMID:29759592 12306145 CCDC115 coiled-coil domain containing 115 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1603946 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital disorders of glycosylation type II PMID:24033266|PMID:25741868|PMID:26833330|PMID:26833332|PMID:29759592 12306145 CCDC115 coiled-coil domain containing 115 gene DOID:630 genetic disease ISO RGD:1603946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12306156 HPCAL4 hippocalcin like 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1348718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12306156 HPCAL4 hippocalcin like 4 gene DOID:630 genetic disease ISO RGD:1348718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306176 UQCC1 ubiquinol-cytochrome c reductase complex assembly factor 1 gene DOID:630 genetic disease ISO RGD:1345532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306213 LELP1 late cornified envelope like proline rich 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1604741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12306213 LELP1 late cornified envelope like proline rich 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1604741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12306213 LELP1 late cornified envelope like proline rich 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1604741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12306213 LELP1 late cornified envelope like proline rich 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1604741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12306213 LELP1 late cornified envelope like proline rich 1 gene DOID:5812 MHC class II deficiency ISO RGD:1604741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12306213 LELP1 late cornified envelope like proline rich 1 gene DOID:630 genetic disease ISO RGD:1604741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306213 LELP1 late cornified envelope like proline rich 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12306220 TMEM35A transmembrane protein 35A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12306220 TMEM35A transmembrane protein 35A gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1345227 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 12306220 TMEM35A transmembrane protein 35A gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1345227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 12306220 TMEM35A transmembrane protein 35A gene DOID:12849 autistic disorder ISO RGD:1345227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12306220 TMEM35A transmembrane protein 35A gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1345227 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0050644 arterial calcification of infancy ISO RGD:1351327 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Idiopathic infantile arterial calcification PMID:10453738|PMID:10480624|PMID:11739459|PMID:11771660|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:16025115|PMID:16607460|PMID:16609882|PMID:16968801|PMID:18950909|PMID:20981035|PMID:24033266|PMID:25741868|PMID:27238374|PMID:28492532|PMID:29979387|PMID:35738466|PMID:9662402 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0050949 autosomal recessive hypophosphatemic rickets ISO RGD:1351327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive PMID:10453738|PMID:11771660|PMID:16025115|PMID:16609882|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9662402 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0060887 ossification of the posterior longitudinal ligament of spine ISO RGD:733393 D RGD:9068941 20220825 MouseDO OMIM:602475 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0060887 ossification of the posterior longitudinal ligament of spine severity ISO RGD:1351327 D RGD:9068941 20200609 RGD DNA:deletion:intron:IVS20-11delT (human) PMID:15834329|REF_RGD_ID:13204732 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0080333 aortic valve disease 1 ISO RGD:628825 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta (rat) PMID:22659116|REF_RGD_ID:12914785 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1351327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10480624|PMID:11739459|PMID:12881724|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:16025115|PMID:16607460|PMID:16968801|PMID:18950909|PMID:20137773|PMID:20981035|PMID:24033266|PMID:25741868|PMID:27238374|PMID:27467858|PMID:28492532|PMID:29979387|PMID:34609116|PMID:35738466 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:10754 otitis media ISO RGD:733393 D RGD:9068941 20220825 MouseDO OMIM:166760 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:1123 spondyloarthropathy ISO RGD:733393 D RGD:9068941 20220825 MouseDO OMIM:106300 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:1214 tympanosclerosis ISO RGD:733393 D RGD:9068941 20220825 MouseDO 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:1287 cardiovascular system disease ISO RGD:1351327 D RGD:9068941 20200609 RGD PMID:21282363|REF_RGD_ID:6906933 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:289 endometriosis ISO RGD:1351327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:3068 glioblastoma severity ISO RGD:1351327 D RGD:9068941 20200609 RGD protein:increased expression:brain (human) PMID:21195542|REF_RGD_ID:13204719 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:630 genetic disease ISO RGD:1351327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:783 end stage renal disease ISO RGD:1351327 D RGD:9068941 20200609 RGD Associated with Type 2 diabetes PMID:18184924|REF_RGD_ID:6906927 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:8398 osteoarthritis ISO RGD:733393 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9000815 Aortic Calcification ISO RGD:733393 D RGD:9068941 20200609 RGD PMID:15625282|REF_RGD_ID:13204716 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9000869 Cole Disease ISO RGD:1351327 D RGD:7240710 20230510 OMIM 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9000869 Cole Disease ISO RGD:1351327 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cole disease PMID:10453738|PMID:10480624|PMID:11739459|PMID:11771660|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:16025115|PMID:16607460|PMID:16609882|PMID:16968801|PMID:18950909|PMID:19380683|PMID:20981035|PMID:24033266|PMID:24075184|PMID:25741868|PMID:27238374|PMID:28492532|PMID:29979387|PMID:35738466|PMID:9662402 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9001198 Hypophosphatemic Rickets, Autosomal Recessive, 2 ISO RGD:1351327 D RGD:7240710 20230510 OMIM 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9001198 Hypophosphatemic Rickets, Autosomal Recessive, 2 ISO RGD:1351327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2 PMID:10453738|PMID:10480624|PMID:11739459|PMID:11771660|PMID:12881724|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:15605415|PMID:15677494|PMID:16025115|PMID:16315058|PMID:16607460|PMID:16609882|PMID:16968801|PMID:18950909|PMID:19229237|PMID:20016754|PMID:20137772|PMID:20137773|PMID:20981035|PMID:24033266|PMID:25741868|PMID:26857895|PMID:27238374|PMID:27467858|PMID:28492532|PMID:28973083|PMID:29244957|PMID:29979387|PMID:31826312|PMID:33005041|PMID:34609116|PMID:35738466|PMID:8960499|PMID:9662402 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:1351327 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:10480624|PMID:11739459|PMID:12881724|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:16025115|PMID:16607460|PMID:16968801|PMID:18950909|PMID:20981035|PMID:25741868|PMID:27238374|PMID:28492532|PMID:29979387|PMID:35738466 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351327 D RGD:9068941 20200609 RGD PMID:19506043|REF_RGD_ID:6906926 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9002661 Diabetes Complications ISO RGD:1351327 D RGD:9068941 20200609 RGD Associated with obesity PMID:21282363|REF_RGD_ID:6906933 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9003781 Ossification of Posterior Longitudinal Ligament ISO RGD:1351327 D RGD:9068941 20200609 RGD OPLL,OMIM:602475;DNA:polymorphism PMID:10453738|REF_RGD_ID:1601041 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1351327 D RGD:9068941 20200609 RGD Associated with end stage renal disease PMID:21602183|REF_RGD_ID:6906934 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9006958 Generalized Arterial Calcification of Infancy, 1 ISO RGD:1351327 D RGD:7240710 20230510 OMIM 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9006958 Generalized Arterial Calcification of Infancy, 1 ISO RGD:1351327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 PMID:10453738|PMID:10480624|PMID:11159191|PMID:11739459|PMID:11771660|PMID:12881724|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:15605415|PMID:15677494|PMID:15940697|PMID:16025115|PMID:16315058|PMID:16369898|PMID:16607460|PMID:16609882|PMID:16968801|PMID:17576681|PMID:18950909|PMID:19206175|PMID:19229237|PMID:20016754|PMID:20137773|PMID:20981035|PMID:22209248|PMID:22539483|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26857895|PMID:27238374|PMID:27467858|PMID:28492532|PMID:28973083|PMID:29141319|PMID:29244957|PMID:29979387|PMID:31444901|PMID:31805212|PMID:31826312|PMID:32573669|PMID:33005041|PMID:34609116|PMID:35738466|PMID:8960499|PMID:9536098|PMID:9662402 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9007096 Stroke susceptibility ISO RGD:1351327 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:missense mutation:cds:p.K173Q (human) PMID:23422753|REF_RGD_ID:13204735 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9007482 Bone Metastasis ISO RGD:1351327 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;mRNA:increased expression:bone element (human) PMID:23861746|REF_RGD_ID:13204736 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9007692 Insulin Resistance ISO RGD:1351327 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Insulin resistance, susceptibility to PMID:10480624|PMID:11739459|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:16025115|PMID:16607460|PMID:16968801|PMID:18950909|PMID:20981035|PMID:25741868|PMID:27238374|PMID:28492532|PMID:29979387|PMID:35738466 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9008221 Medial Coronary Sclerosis of Infancy ISO RGD:1351327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary sclerosis, medial, of infancy PMID:15940697|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9278 hyperargininemia ISO RGD:1351327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginase deficiency PMID:28492532 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351327 D RGD:7240710 20230510 OMIM 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351327 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10453738|PMID:10480624|PMID:11739459|PMID:11771660|PMID:12881724|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:16025115|PMID:16607460|PMID:16609882|PMID:16968801|PMID:18950909|PMID:20137773|PMID:20981035|PMID:24033266|PMID:25741868|PMID:27238374|PMID:27467858|PMID:28492532|PMID:29979387|PMID:34609116|PMID:35738466|PMID:9662402 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9970 obesity ISO RGD:1351327 D RGD:7240710 20230510 OMIM 12306226 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9970 obesity ISO RGD:1351327 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Obesity PMID:10453738|PMID:10480624|PMID:11739459|PMID:11771660|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:15677494|PMID:16025115|PMID:16607460|PMID:16609882|PMID:16968801|PMID:18950909|PMID:20981035|PMID:24033266|PMID:25741868|PMID:27238374|PMID:28492532|PMID:29979387|PMID:35738466|PMID:9662402 12306298 REG3A regenerating islet-derived 3 alpha gene DOID:10763 hypertension ISO RGD:1351031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27798352 12306298 REG3A regenerating islet-derived 3 alpha gene DOID:630 genetic disease ISO RGD:1351031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306313 DHDH dihydrodiol dehydrogenase gene DOID:10283 prostate cancer ISO RGD:1323810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12306313 DHDH dihydrodiol dehydrogenase gene DOID:630 genetic disease ISO RGD:1323810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306313 DHDH dihydrodiol dehydrogenase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 12306322 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:620300 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 12306322 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:0080208 non-alcoholic fatty liver disease disease_progression ISO RGD:620300 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:23117815|REF_RGD_ID:15045604 12306322 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:0090019 sitosterolemia ISO RGD:732770 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sitosterolemia PMID:11099417|PMID:11264985|PMID:11452359|PMID:11893785|PMID:12124998|PMID:15054092|PMID:15375183|PMID:15996216|PMID:16029460|PMID:16199547|PMID:17632509|PMID:20854103|PMID:21039838|PMID:21274884|PMID:22898925|PMID:23241408|PMID:23685560|PMID:24033266|PMID:24657386|PMID:25073796|PMID:25741868|PMID:28492532|PMID:28521186|PMID:28739549|PMID:29590070|PMID:30545335|PMID:32041611|PMID:32088153|PMID:32166861|PMID:33228147|PMID:33269076|PMID:34650182|PMID:3706300|PMID:4360855|PMID:6110091 12306322 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:1168 familial hyperlipidemia susceptibility ISO RGD:732770 D RGD:9068941 20200609 RGD sitosterolemia;DNA:missense mutation, nonsense mutation: :p.G574A, 1083G>A PMID:12671028|REF_RGD_ID:1601097 12306322 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:13580 cholestasis ISO RGD:620300 D RGD:9068941 20200609 RGD PMID:16764892|REF_RGD_ID:1598662 12306322 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:1588 thrombocytopenia ISO RGD:732770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532|PMID:31064749 12306322 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:2213 hemorrhagic disease ISO RGD:732770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532 12306322 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:732770 D RGD:9068941 20200609 RGD PMID:11099417|REF_RGD_ID:1300331 12306322 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:3393 coronary artery disease ISO RGD:732770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11099417 12306322 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:3883 Lynch syndrome ISO RGD:732770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12306322 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:589 congenital hemolytic anemia ISO RGD:732770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868 12306322 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:630 genetic disease ISO RGD:732770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12306322 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:9000528 Coronary Disease ISO RGD:732770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset coronary artery disease 12306322 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:9000808 Hypercholesterolemia ISO RGD:732770 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M429V PMID:15816807|REF_RGD_ID:1601094 12306322 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12306322 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:9001723 Sitosterolemia 2 ISO RGD:732770 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sitosterolemia 2 PMID:11893785|PMID:17632509|PMID:21039838|PMID:21274884|PMID:22898925|PMID:25741868|PMID:28492532 12306322 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:9002547 Sitosterolemia 1 ISO RGD:732770 D RGD:7240710 20191127 OMIM 12306322 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:9002547 Sitosterolemia 1 ISO RGD:732770 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sitosterolemia 1 PMID:11099417|PMID:11264985|PMID:11452359|PMID:11893785|PMID:12124998|PMID:15054092|PMID:15375183|PMID:15816807|PMID:15996216|PMID:16029460|PMID:16199547|PMID:17576681|PMID:17632509|PMID:20854103|PMID:21039838|PMID:21274884|PMID:22898925|PMID:22981120|PMID:23241408|PMID:23685560|PMID:24166850|PMID:24497850|PMID:24657386|PMID:25073796|PMID:25110228|PMID:25741868|PMID:28492532|PMID:28521186|PMID:28739549|PMID:29169939|PMID:29590070|PMID:29886606|PMID:30007774|PMID:30241732|PMID:30333156|PMID:30545335|PMID:30968598|PMID:31064749|PMID:31327807|PMID:32041611|PMID:32088153|PMID:32166861|PMID:33228147|PMID:33269076|PMID:34650182|PMID:35549507|PMID:3706300|PMID:4360855|PMID:6110091|PMID:9536098 12306322 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:9005000 Gallbladder Disease 4 ISO RGD:732770 D RGD:7240710 20180130 OMIM 12306322 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:9005000 Gallbladder Disease 4 ISO RGD:732770 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gallbladder disease 4 PMID:11099417|PMID:11452359|PMID:11893785|PMID:12124998|PMID:15054092|PMID:15375183|PMID:16029460|PMID:17632509|PMID:20854103|PMID:21039838|PMID:21274884|PMID:22898925|PMID:23685560|PMID:24497850|PMID:24657386|PMID:25741868|PMID:28492532|PMID:28521186|PMID:29590070|PMID:30241732|PMID:32041611|PMID:32088153|PMID:33228147|PMID:33269076|PMID:34650182|PMID:4360855 12306322 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620300 D RGD:9068941 20200609 RGD PMID:14618236|REF_RGD_ID:1558629 12306322 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:9006113 Gallstones ISO RGD:732770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632509 12306322 ABCG8 ATP binding cassette subfamily G member 8 gene DOID:9970 obesity ISO RGD:732770 D RGD:9068941 20200609 RGD PMID:15331430|REF_RGD_ID:1601095 12306340 ARMC12 armadillo repeat containing 12 gene DOID:0050553 JMP syndrome ISO RGD:1314376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12306340 ARMC12 armadillo repeat containing 12 gene DOID:10283 prostate cancer ISO RGD:1314376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12306340 ARMC12 armadillo repeat containing 12 gene DOID:630 genetic disease ISO RGD:1314376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306353 LOC474938 glutathione S-transferase A2 gene DOID:0060041 autism spectrum disorder ISO RGD:1351230 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12306353 LOC474938 glutathione S-transferase A2 gene DOID:630 genetic disease ISO RGD:1351230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306353 LOC474938 glutathione S-transferase A2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351230 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12306364 HAL histidine ammonia-lyase gene DOID:0060168 histidinemia ISO RGD:68517 D RGD:7240710 20180130 OMIM 12306364 HAL histidine ammonia-lyase gene DOID:0060168 histidinemia ISO RGD:68517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Histidinemia | ClinVar Annotator: match by term: Increased histidine PMID:15173056|PMID:15806399|PMID:23361591|PMID:23806086|PMID:24088041|PMID:24725463|PMID:25575548|PMID:25741868|PMID:27453504|PMID:28492532 12306364 HAL histidine ammonia-lyase gene DOID:630 genetic disease ISO RGD:68517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306364 HAL histidine ammonia-lyase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12306388 ACRBP acrosin binding protein gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1344974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12306388 ACRBP acrosin binding protein gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1344974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12306388 ACRBP acrosin binding protein gene DOID:0111621 Temtamy syndrome ISO RGD:1344974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12306388 ACRBP acrosin binding protein gene DOID:630 genetic disease ISO RGD:1344974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306388 ACRBP acrosin binding protein gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1344974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12306388 ACRBP acrosin binding protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12306388 ACRBP acrosin binding protein gene DOID:9007502 Brain Neoplasms ISO RGD:1344974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of brain 12306388 ACRBP acrosin binding protein gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1344974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12306402 NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:732792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868|PMID:28492532 12306402 NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:732792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 12306402 NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:0112073 nuclear type mitochondrial complex I deficiency 9 ISO RGD:732792 D RGD:7240710 20190315 OMIM 12306402 NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:0112073 nuclear type mitochondrial complex I deficiency 9 ISO RGD:732792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 PMID:15372108|PMID:17576681|PMID:19259137|PMID:25741868|PMID:28429146|PMID:28492532|PMID:30948790|PMID:9536098 12306402 NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:732792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 12306402 NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:1059 intellectual disability ISO RGD:732792 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12306402 NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:1059 intellectual disability ISO RGD:732792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 12306402 NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:2349 arteriosclerosis ISO RGD:3156 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:16620292|REF_RGD_ID:2302364 12306402 NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:4362 cervical cancer disease_progression ISO RGD:732792 D RGD:9068941 20200609 RGD DNA, mRNA:amplification, increased expression:uterine cervix PMID:18559093|REF_RGD_ID:2302384 12306402 NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:630 genetic disease ISO RGD:732792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15372108|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532 12306402 NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:732792 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 12306410 MRPL46 mitochondrial ribosomal protein L46 gene DOID:10283 prostate cancer ISO RGD:1319287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12306410 MRPL46 mitochondrial ribosomal protein L46 gene DOID:2717 Bloom syndrome ISO RGD:1319287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12306410 MRPL46 mitochondrial ribosomal protein L46 gene DOID:630 genetic disease ISO RGD:1319287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306410 MRPL46 mitochondrial ribosomal protein L46 gene DOID:9256 colorectal cancer ISO RGD:1319287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12306421 DHFR dihydrofolate reductase gene DOID:0080412 familial adenomatous polyposis 4 ISO RGD:736871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 4 PMID:28492532 12306421 DHFR dihydrofolate reductase gene DOID:12450 pancytopenia ISO RGD:736871 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:21310276 12306421 DHFR dihydrofolate reductase gene DOID:12849 autistic disorder ISO RGD:736871 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:17597297 12306421 DHFR dihydrofolate reductase gene DOID:1324 lung cancer ISO RGD:736871 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:28492532 12306421 DHFR dihydrofolate reductase gene DOID:13382 megaloblastic anemia ISO RGD:736871 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:21310276|PMID:21310277 12306421 DHFR dihydrofolate reductase gene DOID:14026 folic acid deficiency anemia ISO RGD:736871 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:21310277 12306421 DHFR dihydrofolate reductase gene DOID:2871 endometrial carcinoma ISO RGD:736871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25741868 12306421 DHFR dihydrofolate reductase gene DOID:3347 osteosarcoma ISO RGD:736871 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:19159907 12306421 DHFR dihydrofolate reductase gene DOID:4435 cavernous sinus meningioma ISO RGD:736871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cavernous sinus meningioma PMID:26467025|PMID:31371350|PMID:31627758 12306421 DHFR dihydrofolate reductase gene DOID:630 genetic disease ISO RGD:736871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306421 DHFR dihydrofolate reductase gene DOID:655 inherited metabolic disorder ISO RGD:736871 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:21310276|PMID:21310277 12306421 DHFR dihydrofolate reductase gene DOID:684 hepatocellular carcinoma ISO RGD:736871 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:28492532 12306421 DHFR dihydrofolate reductase gene DOID:7148 rheumatoid arthritis ISO RGD:736871 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 12306421 DHFR dihydrofolate reductase gene DOID:863 nervous system disease ISO RGD:736871 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:21064136|PMID:21310277 12306421 DHFR dihydrofolate reductase gene DOID:8692 myeloid leukemia ISO RGD:10471 D RGD:9068941 20220210 RGD PMID:12649191|REF_RGD_ID:11039541 12306421 DHFR dihydrofolate reductase gene DOID:9000965 Neoplasm Metastasis ISO RGD:736871 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:19159907 12306421 DHFR dihydrofolate reductase gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:2500 D RGD:9068941 20220210 RGD PMID:8149482|REF_RGD_ID:11040442 12306421 DHFR dihydrofolate reductase gene DOID:9003281 Spontaneous Abortions ISO RGD:736871 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12306421 DHFR dihydrofolate reductase gene DOID:9003312 Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency ISO RGD:736871 D RGD:7240710 20220209 OMIM 12306421 DHFR dihydrofolate reductase gene DOID:9003312 Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency ISO RGD:736871 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: DHFR DEFICIENCY | ClinVar Annotator: match by term: Megaloblastic anemia due to dihydrofolate reductase deficiency PMID:1060915|PMID:1099447|PMID:21310276|PMID:21310277|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31371350|PMID:31627758|PMID:6700662 12306421 DHFR dihydrofolate reductase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12306421 DHFR dihydrofolate reductase gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2500 D RGD:9068941 20220210 RGD mRNA,protein:decreased expression:kidney: PMID:18408363|REF_RGD_ID:11040540 12306421 DHFR dihydrofolate reductase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736871 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 12306421 DHFR dihydrofolate reductase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736871 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:24033266|PMID:26467025|PMID:26904404|PMID:27476653|PMID:28492532|PMID:31371350|PMID:31627758|PMID:9536098 12306421 DHFR dihydrofolate reductase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736871 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:20154325|PMID:24033266|PMID:26467025|PMID:26904404|PMID:27476653|PMID:28492532|PMID:29641532|PMID:31371350|PMID:31627758|PMID:33332384|PMID:9536098 12306421 DHFR dihydrofolate reductase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736871 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:19648163 12306421 DHFR dihydrofolate reductase gene DOID:9007456 Female Infertility ISO RGD:736871 D RGD:9068941 20220210 CTD CTD Direct Evidence: therapeutic PMID:17519396 12306421 DHFR dihydrofolate reductase gene DOID:9008443 Colorectal Neoplasms ISO RGD:736871 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 12306421 DHFR dihydrofolate reductase gene DOID:9008939 Breast Neoplasms ISO RGD:736871 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:21501481|PMID:28188287 12306421 DHFR dihydrofolate reductase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736871 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:25227144|PMID:28492532 12306421 DHFR dihydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:736871 D RGD:9068941 20220210 RGD PMID:9226157|REF_RGD_ID:11039543 12306421 DHFR dihydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:736871 D RGD:9068941 20220210 RGD PMID:12972803|REF_RGD_ID:11039545 12306421 DHFR dihydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:736871 D RGD:9068941 20220210 RGD DNA:polymorphisms, haplotype:promoter: PMID:19861437|REF_RGD_ID:11039542 12306421 DHFR dihydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:736871 D RGD:9068941 20220210 RGD DNA:polymorphisms: :-317A>G, 829C>T (human) PMID:22969948|REF_RGD_ID:11039544 12306433 LYST lysosomal trafficking regulator gene DOID:0050117 disease by infectious agent ISO RGD:1604070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent infections 12306433 LYST lysosomal trafficking regulator gene DOID:0050952 spastic ataxia ISO RGD:1604070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 12306433 LYST lysosomal trafficking regulator gene DOID:0081013 severe COVID-19 ISO RGD:1604070 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 PMID:25741868|PMID:28492532 12306433 LYST lysosomal trafficking regulator gene DOID:13641 exfoliation syndrome ISO RGD:731450 D RGD:9068941 20220825 MouseDO OMIM:177650 12306433 LYST lysosomal trafficking regulator gene DOID:1540 parathyroid carcinoma ISO RGD:1604070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12306433 LYST lysosomal trafficking regulator gene DOID:1826 epilepsy ISO RGD:1604070 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12306433 LYST lysosomal trafficking regulator gene DOID:1891 optic nerve disease ISO RGD:1604070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic neuropathy PMID:25741868|PMID:28492532 12306433 LYST lysosomal trafficking regulator gene DOID:2213 hemorrhagic disease ISO RGD:1604070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532 12306433 LYST lysosomal trafficking regulator gene DOID:2223 platelet storage pool deficiency ISO RGD:731450 D RGD:9068941 20220825 MouseDO OMIM:185050 12306433 LYST lysosomal trafficking regulator gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1604070 D RGD:7240710 20180130 OMIM 12306433 LYST lysosomal trafficking regulator gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1604070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10482950|PMID:10648412|PMID:11857544|PMID:15896657|PMID:16199547|PMID:17554367|PMID:17576681|PMID:18485661|PMID:20301751|PMID:21878672|PMID:22883044|PMID:23436631|PMID:24033266|PMID:24072239|PMID:24112114|PMID:25047945|PMID:25312756|PMID:25640679|PMID:25741868|PMID:26193622|PMID:26597256|PMID:26684649|PMID:26915675|PMID:27669550|PMID:27781387|PMID:27872624|PMID:28145517|PMID:28193763|PMID:28458669|PMID:28492532|PMID:28748566|PMID:29519750|PMID:30383631|PMID:30815890|PMID:30819905|PMID:30899265|PMID:31245861|PMID:31906877|PMID:32099069|PMID:32531373|PMID:32542393|PMID:32638196|PMID:33217554|PMID:34083498|PMID:8717042|PMID:8751863|PMID:8896560|PMID:9215679|PMID:9215680|PMID:9536098 12306433 LYST lysosomal trafficking regulator gene DOID:630 genetic disease ISO RGD:1604070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11857544|PMID:17576681|PMID:18485661|PMID:25741868|PMID:26684649|PMID:27872624|PMID:28492532|PMID:28748566|PMID:29519750|PMID:30819905|PMID:32099069|PMID:9215679|PMID:9536098 12306433 LYST lysosomal trafficking regulator gene DOID:9001488 Human Influenza ISO RGD:1604070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26597256 12306433 LYST lysosomal trafficking regulator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:0080322 polycystic kidney disease ISO RGD:67366 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:12490538|REF_RGD_ID:1642471 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:0080820 occupational asthma ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27504716 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:11394 adult respiratory distress syndrome ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10881173 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:12849 autistic disorder ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15301788 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:1540 parathyroid carcinoma ISO RGD:735872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:1724 duodenal ulcer ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18451993 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:2218 blood platelet disease ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18451993 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:2316 brain ischemia ISO RGD:67366 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:15306117|REF_RGD_ID:1642465 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:2615 papilloma ISO RGD:67366 D RGD:9068941 20200609 RGD associated with Bladder Neoplasms;mRNA:increased expression:bladder PMID:16621493|REF_RGD_ID:1642457 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:2671 transitional cell carcinoma ISO RGD:67366 D RGD:9068941 20200609 RGD mRNA:increased expression:bladder PMID:16621493|REF_RGD_ID:1642457 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:2723 dermatitis ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18287786 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:2841 asthma ISO RGD:67366 D RGD:9068941 20200609 RGD PMID:15557087|REF_RGD_ID:1642462 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:332 amyotrophic lateral sclerosis ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15816863 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:4195 hyperglycemia ISO RGD:67366 D RGD:9068941 20200609 RGD protein:increased activity:vascular associated smooth muscle cell PMID:7635966|REF_RGD_ID:1642443 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:630 genetic disease ISO RGD:735872 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:655 inherited metabolic disorder ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18451993 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:9000368 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets ISO RGD:735872 D RGD:7240710 20190424 OMIM 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:9000368 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets ISO RGD:735872 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS | ClinVar Annotator: match by term: PHOSPHOLIPASE A2, GROUP IVA, DEFICIENCY OF PMID:18451993|PMID:23268370|PMID:25102815|PMID:25741868|PMID:28492532 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:9000972 Fever ISO RGD:67366 D RGD:9068941 20200609 RGD protein:increased phosphorylation:lung PMID:16933973|REF_RGD_ID:1642453 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:67366 D RGD:9068941 20200609 RGD protein:increased activity:liver PMID:17459512|REF_RGD_ID:1642445 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:9002211 Hyperalgesia ISO RGD:67366 D RGD:9068941 20200609 RGD PMID:16203828|REF_RGD_ID:1642461 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:9002498 Wallerian Degeneration ISO RGD:11116 D RGD:9068941 20200609 RGD PMID:18718965|REF_RGD_ID:6482738 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:9002498 Wallerian Degeneration ISO RGD:67366 D RGD:9068941 20200609 RGD PMID:14664823|REF_RGD_ID:1642469 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:9004009 Reperfusion Injury ISO RGD:67366 D RGD:9068941 20200609 RGD protein:increased activity:alveolar macrophage PMID:1642455|REF_RGD_ID:1642456 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:9004484 Sepsis ISO RGD:67366 D RGD:9068941 20200609 RGD protein:increased activity:liver PMID:9879654|REF_RGD_ID:1642481 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:9005372 Inflammation ISO RGD:67366 D RGD:9068941 20200609 RGD PMID:17305324|REF_RGD_ID:1642446 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:9006646 Metabolic Syndrome ISO RGD:67366 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:21172452|REF_RGD_ID:6482748 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:9007730 Burns ISO RGD:67366 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:17483741|REF_RGD_ID:1642444 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:9008939 Breast Neoplasms ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21119660 12306496 PLA2G4A phospholipase A2 group IVA gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12306536 MON2 MON2 homolog, regulator of endosome-to-Golgi trafficking gene DOID:630 genetic disease ISO RGD:1604635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306588 CTSO cathepsin O gene DOID:630 genetic disease ISO RGD:1343138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306601 MGAT5B alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B gene DOID:11612 polycystic ovary syndrome ISO RGD:1313067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12306601 MGAT5B alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B gene DOID:630 genetic disease ISO RGD:1313067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306635 NFATC2 nuclear factor of activated T cells 2 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1317023 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A 12306635 NFATC2 nuclear factor of activated T cells 2 gene DOID:630 genetic disease ISO RGD:1317023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306635 NFATC2 nuclear factor of activated T cells 2 gene DOID:6432 pulmonary hypertension ISO RGD:1307690 D RGD:9068941 20200609 RGD PMID:17596340|REF_RGD_ID:1627651 12306635 NFATC2 nuclear factor of activated T cells 2 gene DOID:6432 pulmonary hypertension ISO RGD:1317023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27522126 12306635 NFATC2 nuclear factor of activated T cells 2 gene DOID:863 nervous system disease ISO RGD:1317023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 12306635 NFATC2 nuclear factor of activated T cells 2 gene DOID:9008054 JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA ISO RGD:1317023 D RGD:7240710 20230505 OMIM 12306635 NFATC2 nuclear factor of activated T cells 2 gene DOID:9008054 JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA ISO RGD:1317023 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Joint contractures, osteochondromas, and B-cell lymphoma PMID:35789258 12306635 NFATC2 nuclear factor of activated T cells 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 12306655 P2RX6 purinergic receptor P2X 6 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:736820 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12306655 P2RX6 purinergic receptor P2X 6 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:736820 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12306655 P2RX6 purinergic receptor P2X 6 gene DOID:1059 intellectual disability ISO RGD:736820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12306655 P2RX6 purinergic receptor P2X 6 gene DOID:11198 DiGeorge syndrome ISO RGD:736820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:31690835|PMID:32581362 12306655 P2RX6 purinergic receptor P2X 6 gene DOID:11372 megacolon ISO RGD:736820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12306655 P2RX6 purinergic receptor P2X 6 gene DOID:12583 velocardiofacial syndrome ISO RGD:736820 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12306655 P2RX6 purinergic receptor P2X 6 gene DOID:12849 autistic disorder ISO RGD:736820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12306655 P2RX6 purinergic receptor P2X 6 gene DOID:1826 epilepsy ISO RGD:736820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12306655 P2RX6 purinergic receptor P2X 6 gene DOID:5419 schizophrenia ISO RGD:736820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12306655 P2RX6 purinergic receptor P2X 6 gene DOID:612 primary immunodeficiency disease ISO RGD:736820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12306655 P2RX6 purinergic receptor P2X 6 gene DOID:630 genetic disease ISO RGD:736820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306655 P2RX6 purinergic receptor P2X 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12306655 P2RX6 purinergic receptor P2X 6 gene DOID:9007661 Dwarfism ISO RGD:736820 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12306672 MUL1 mitochondrial E3 ubiquitin protein ligase 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1606503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12306672 MUL1 mitochondrial E3 ubiquitin protein ligase 1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1606503 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12306672 MUL1 mitochondrial E3 ubiquitin protein ligase 1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1606503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12306672 MUL1 mitochondrial E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1606503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306672 MUL1 mitochondrial E3 ubiquitin protein ligase 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1606503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12306680 SEMA4B semaphorin 4B gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1317317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12306680 SEMA4B semaphorin 4B gene DOID:2717 Bloom syndrome ISO RGD:1317317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12306680 SEMA4B semaphorin 4B gene DOID:630 genetic disease ISO RGD:1317317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306680 SEMA4B semaphorin 4B gene DOID:9256 colorectal cancer ISO RGD:1317317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12306699 ITK IL2 inducible T cell kinase gene DOID:0060704 lymphoproliferative syndrome ISO RGD:1323169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoproliferative disorder 12306699 ITK IL2 inducible T cell kinase gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1323169 D RGD:7240710 20180130 OMIM 12306699 ITK IL2 inducible T cell kinase gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1323169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:17412921|PMID:17576681|PMID:19425169|PMID:19535334|PMID:19701889|PMID:19717557|PMID:2018|PMID:21109689|PMID:22289921|PMID:25339095|PMID:25741868|PMID:26056787|PMID:27454071|PMID:28492532|PMID:31388699|PMID:32150605|PMID:32628964|PMID:32888943|PMID:8985255|PMID:9536098 12306699 ITK IL2 inducible T cell kinase gene DOID:12306 vitiligo ISO RGD:1323169 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Vitiligo-associated multiple autoimmune disease susceptibility 1 PMID:28492532|PMID:32628964|PMID:32888943 12306699 ITK IL2 inducible T cell kinase gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1323169 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:17576681|PMID:22289921|PMID:25741868|PMID:28492532|PMID:9536098 12306699 ITK IL2 inducible T cell kinase gene DOID:630 genetic disease ISO RGD:1323169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12306720 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1315252 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12306720 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1315252 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12306720 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:0090139 cortisone reductase deficiency ISO RGD:1315252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12306720 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:0090139 cortisone reductase deficiency ISO RGD:1315252 D RGD:9068941 20200609 RGD DNA:point mutation:CDS:p.R453Q (human) PMID:12858176|REF_RGD_ID:1625067 12306720 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:0090141 cortisone reductase deficiency 1 ISO RGD:1315252 D RGD:7240710 20180802 OMIM 12306720 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:0090141 cortisone reductase deficiency 1 ISO RGD:1315252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cortisone reductase deficiency 1 PMID:10522997|PMID:11150889|PMID:12858176|PMID:15827106|PMID:16091483|PMID:16356929|PMID:16817821|PMID:17062770|PMID:18628520|PMID:25741868|PMID:28492532 12306720 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:2377 multiple sclerosis ISO RGD:1315252 D RGD:9068941 20200609 RGD DNA:SNP:exon: rs17368528 (human) PMID:19935835|REF_RGD_ID:6784513 12306720 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:630 genetic disease ISO RGD:1315252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12306720 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12306720 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1306562 D RGD:9068941 20200609 RGD PMID:20923496|REF_RGD_ID:6784507 12306720 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:9008939 Breast Neoplasms ISO RGD:1315252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295867 12306762 BAIAP3 BAI1 associated protein 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1318052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12306762 BAIAP3 BAI1 associated protein 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1318052 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12306762 BAIAP3 BAI1 associated protein 3 gene DOID:1826 epilepsy ISO RGD:1318052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12306762 BAIAP3 BAI1 associated protein 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12306762 BAIAP3 BAI1 associated protein 3 gene DOID:2843 long QT syndrome ISO RGD:1318052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12306762 BAIAP3 BAI1 associated protein 3 gene DOID:630 genetic disease ISO RGD:1318052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306799 MOK MOK protein kinase gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1319529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12306799 MOK MOK protein kinase gene DOID:0111402 mucopolysaccharidosis type IIID ISO RGD:1319529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D PMID:25741868 12306799 MOK MOK protein kinase gene DOID:4450 renal cell carcinoma ISO RGD:1319529 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:15900605|REF_RGD_ID:7243170 12306799 MOK MOK protein kinase gene DOID:630 genetic disease ISO RGD:1319529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306799 MOK MOK protein kinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1319529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23500658 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0050427 xeroderma pigmentosum ISO RGD:1319264 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:10447254|PMID:11285194|PMID:11319176|PMID:11335038|PMID:11443545|PMID:11710928|PMID:11734544|PMID:12820975|PMID:15982307|PMID:16111488|PMID:16199547|PMID:16707649|PMID:17403617|PMID:17576681|PMID:18191955|PMID:18470933|PMID:18510925|PMID:18578568|PMID:18637129|PMID:19085937|PMID:19934020|PMID:22234153|PMID:22826098|PMID:23221806|PMID:23232694|PMID:23382212|PMID:23800062|PMID:24033266|PMID:24252196|PMID:24448499|PMID:24514865|PMID:24728327|PMID:25002996|PMID:25431422|PMID:25716912|PMID:25741868|PMID:26344056|PMID:26467025|PMID:26556299|PMID:26577220|PMID:26689913|PMID:26884178|PMID:26957611|PMID:27004399|PMID:27085493|PMID:27396511|PMID:27504877|PMID:28492532|PMID:29178624|PMID:29478780|PMID:29607586|PMID:29625052|PMID:29754767|PMID:30136158|PMID:30919937|PMID:31937902|PMID:31980526|PMID:32830346|PMID:33095795|PMID:33199492|PMID:34308104|PMID:35477182|PMID:36033485|PMID:7585650|PMID:7849702|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033|PMID:9536098|PMID:9758621 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0050908 myelodysplastic syndrome ISO RGD:1319264 D RGD:9068941 20200609 RGD PMID:25154760|REF_RGD_ID:11252197 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNP: :p.K751Q (rs13181) (human) PMID:26482462|REF_RGD_ID:11075607 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1319264 D RGD:9068941 20200609 RGD trichothiodystrophy,OMIM:601675;DNA:point mutation:exon:A725P PMID:9195225|REF_RGD_ID:1601069 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0080911 cerebrooculofacioskeletal syndrome 1 ISO RGD:1319264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 PMID:24728327|PMID:25741868|PMID:28492532 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0080912 cerebrooculofacioskeletal syndrome 2 ISO RGD:1319264 D RGD:7240710 20180130 OMIM 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0080912 cerebrooculofacioskeletal syndrome 2 ISO RGD:1319264 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 PMID:11242112|PMID:11335038|PMID:11443545|PMID:11585917|PMID:11709541|PMID:11710928|PMID:11734544|PMID:12820975|PMID:15494306|PMID:15534626|PMID:16054878|PMID:18470933|PMID:18510924|PMID:18510925|PMID:18637129|PMID:18709642|PMID:19085937|PMID:19434073|PMID:19470925|PMID:19931493|PMID:19934020|PMID:20633800|PMID:20944642|PMID:22234153|PMID:22826098|PMID:23039039|PMID:23221806|PMID:23232694|PMID:23800062|PMID:24033266|PMID:24252196|PMID:24418926|PMID:24448499|PMID:24514865|PMID:24728327|PMID:25002996|PMID:25431422|PMID:25620205|PMID:25741868|PMID:26344056|PMID:26556299|PMID:26577220|PMID:26884178|PMID:27004399|PMID:27396511|PMID:27504877|PMID:28492532|PMID:28749383|PMID:29169765|PMID:29478780|PMID:31282071|PMID:31803976|PMID:31937902|PMID:32047639|PMID:32830346|PMID:33095795|PMID:7585650|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033|PMID:9651581 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0110698 hypotrichosis 1 ISO RGD:1319264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypotrichosis simplex PMID:19931493|PMID:20944642|PMID:23039039|PMID:23232694|PMID:24033266|PMID:25620205|PMID:25741868|PMID:28492532|PMID:31282071|PMID:31803976|PMID:7920640|PMID:8571952|PMID:9238033|PMID:9651581 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0110845 xeroderma pigmentosum group D ISO RGD:1319264 D RGD:7240710 20180130 OMIM 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0110845 xeroderma pigmentosum group D ISO RGD:1319264 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII | ClinVar Annotator: match by term: Xeroderma pigmentosum, group D PMID:11156600|PMID:11285194|PMID:11319176|PMID:11335038|PMID:11443545|PMID:11709541|PMID:11710928|PMID:11734544|PMID:12458209|PMID:12820975|PMID:15494306|PMID:15534626|PMID:15982307|PMID:16054878|PMID:16111488|PMID:16199547|PMID:16707649|PMID:17403617|PMID:17576681|PMID:18191955|PMID:18510924|PMID:18510925|PMID:18637129|PMID:18709642|PMID:19085937|PMID:19434073|PMID:19470925|PMID:19931493|PMID:19934020|PMID:20633800|PMID:20944642|PMID:22234153|PMID:22572993|PMID:22826098|PMID:23039039|PMID:23221806|PMID:23232694|PMID:23276657|PMID:23800062|PMID:24033266|PMID:24252196|PMID:24418926|PMID:24448499|PMID:24728327|PMID:25431422|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26344056|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26884178|PMID:27004399|PMID:27085493|PMID:27396511|PMID:27504877|PMID:28376765|PMID:28492532|PMID:29169765|PMID:29178624|PMID:29478780|PMID:29607586|PMID:29754767|PMID:30136158|PMID:31282071|PMID:31803976|PMID:31937902|PMID:31980526|PMID:32047639|PMID:32830346|PMID:33095795|PMID:33199492|PMID:34308104|PMID:35477182|PMID:36033485|PMID:7585650|PMID:7849702|PMID:7920640|PMID:8571952|PMID:9101292|PMID:9195225|PMID:9238033|PMID:9536098|PMID:9651581|PMID:9758621 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0111866 trichothiodystrophy ISO RGD:1319264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PIBIDS syndrome | ClinVar Annotator: match by term: Trichothiodystrophy PMID:15982307|PMID:19931493|PMID:20944642|PMID:22234153|PMID:23039039|PMID:23221806|PMID:23232694|PMID:24033266|PMID:24728327|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26884178|PMID:27504877|PMID:28492532|PMID:29607586|PMID:31282071|PMID:31803976|PMID:7585650|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033|PMID:9651581 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0111873 photosensitive trichothiodystrophy 1 ISO RGD:1319264 D RGD:7240710 20180130 OMIM 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0111873 photosensitive trichothiodystrophy 1 ISO RGD:1319264 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive PMID:11242112|PMID:11335038|PMID:11443545|PMID:11585917|PMID:11709541|PMID:11734544|PMID:12820975|PMID:15982307|PMID:16199547|PMID:17576681|PMID:18470933|PMID:19085937|PMID:19434073|PMID:19470925|PMID:19931493|PMID:19934020|PMID:20944642|PMID:22234153|PMID:22826098|PMID:23039039|PMID:23221806|PMID:23232694|PMID:23800062|PMID:24033266|PMID:24514865|PMID:24728327|PMID:25002996|PMID:25431422|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26344056|PMID:26577220|PMID:26884178|PMID:27085493|PMID:27396511|PMID:27504877|PMID:28492532|PMID:29607586|PMID:29625052|PMID:29754767|PMID:30136158|PMID:31282071|PMID:31803976|PMID:31980526|PMID:34308104|PMID:35477182|PMID:36033485|PMID:7585650|PMID:7849702|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033|PMID:9536098|PMID:9651581|PMID:9758621 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10283 prostate cancer susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D312N (human) PMID:17695467|REF_RGD_ID:5688739 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10283 prostate cancer susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.R156R(human) PMID:24649009|REF_RGD_ID:8657136 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10534 stomach cancer ameliorates ISO RGD:1319264 D RGD:9068941 20221006 RGD mRNA:increased expression:stomach (human) PMID:30417012|REF_RGD_ID:155260342 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10534 stomach cancer disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.K751Q (2251A>C) (rs13181) (human) PMID:26499900|REF_RGD_ID:11340202 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10534 stomach cancer exacerbates ISO RGD:1319264 D RGD:9068941 20221006 RGD DNA:SNP:intron: (rs50871) (human) PMID:27340861|REF_RGD_ID:155260339 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10581 metachromatic leukodystrophy ISO RGD:1319264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy variant PMID:11335038|PMID:11709541|PMID:19085937|PMID:19934020|PMID:20633800|PMID:24728327|PMID:25741868|PMID:27504877|PMID:28492532|PMID:9238033 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10652 Alzheimer's disease ISO RGD:1319264 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:9714461|REF_RGD_ID:5688738 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:11054 urinary bladder cancer ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121791|PMID:27111033 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD PMID:25316812|REF_RGD_ID:11252208 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:11088 asphyxia neonatorum ISO RGD:1309109 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:9763211|REF_RGD_ID:2302855 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:12603 acute leukemia ISO RGD:1319264 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified PMID:15982307|PMID:22234153|PMID:23221806|PMID:23232694|PMID:24728327|PMID:25716912|PMID:25741868|PMID:26884178|PMID:27504877|PMID:28492532|PMID:29607586|PMID:7585650|PMID:8571952|PMID:9195225|PMID:9238033 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:12689 acoustic neuroma susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D312N (rs1799793) (human) PMID:20150366|REF_RGD_ID:5688735 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:14250 Down syndrome ISO RGD:1319264 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:9714461|REF_RGD_ID:5688738 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:1612 breast cancer susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:haplotype:cds:6540G>A(D312N),18880A>C(p.K751Q)(human) PMID:15598761|REF_RGD_ID:12880387 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:1749 squamous cell carcinoma ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17687452 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:1793 pancreatic cancer ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA,protein:SNPs:exons:rs1799793,rs1052559 PMID:16458430|REF_RGD_ID:2317228 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:1793 pancreatic cancer ISO RGD:1319264 D RGD:9068941 20200609 RGD pancreatic adenocarcinoma;DNA:SNPs: :rs1799793,rs1052555(human) PMID:18544627|REF_RGD_ID:2317223 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:1793 pancreatic cancer treatment ISO RGD:1319264 D RGD:9068941 20200609 RGD PMID:21404106|REF_RGD_ID:11252206 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:1909 melanoma disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.K751Q(human) PMID:21390047|REF_RGD_ID:12880434 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:2152 ovary epithelial cancer severity ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D312N (rs1799793) (human) PMID:19786980|REF_RGD_ID:5688741 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:2394 ovarian cancer ISO RGD:1319264 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:11242112|PMID:11585917|PMID:12820975|PMID:24728327|PMID:25431422|PMID:25741868|PMID:26344056|PMID:28492532|PMID:8571952|PMID:9238033 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:2960 photosensitive trichothiodystrophy ISO RGD:1319264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS PMID:15982307|PMID:19931493|PMID:20944642|PMID:22234153|PMID:23039039|PMID:23221806|PMID:23232694|PMID:24033266|PMID:24728327|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26884178|PMID:27504877|PMID:28492532|PMID:29607586|PMID:31282071|PMID:31803976|PMID:7585650|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033|PMID:9651581 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:2962 Cockayne syndrome ISO RGD:1319265 D RGD:9068941 20200609 RGD associated with Xeroderma Pigmentosum;DNA:missense mutation: :p.G602D (mouse) PMID:16904611|REF_RGD_ID:10401080 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:3070 high grade glioma susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD PMID:11319176|REF_RGD_ID:10401082 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:3376 bone osteosarcoma ISO RGD:1319264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:19434073|PMID:19470925|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:3393 coronary artery disease susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNP: :rs13181(human) PMID:27566080|REF_RGD_ID:12880440 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:37 skin disease ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17050553 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:37 skin disease susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD associated with Arsenic Poisoning;DNA:polymorphism:cds:35931A>C(p. K751Q)(human) PMID:19834688|REF_RGD_ID:12880437 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:3908 lung non-small cell carcinoma ISO RGD:1319264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:19434073|PMID:19470925|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.K751Q(human) PMID:25596702|REF_RGD_ID:12880391 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1319264 D RGD:9068941 20221006 RGD DNA:SNPs:multiple (human) PMID:28924235|REF_RGD_ID:153323316 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:4448 macular degeneration susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotype:cds:p.D312N, p.K751Q (human) PMID:20375340|REF_RGD_ID:10401085 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:4603 epidermolytic hyperkeratosis ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17050553 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:4971 myelofibrosis no_association ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.K751Q (rs13181) (human) PMID:23716550|REF_RGD_ID:11252191 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:630 genetic disease ISO RGD:1319264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11443545|PMID:11710928|PMID:11734544|PMID:12820975|PMID:15494306|PMID:15534626|PMID:15982307|PMID:16054878|PMID:18470933|PMID:18510925|PMID:18637129|PMID:18709642|PMID:19934020|PMID:22234153|PMID:22826098|PMID:23221806|PMID:23232694|PMID:23800062|PMID:24033266|PMID:24252196|PMID:24418926|PMID:24448499|PMID:24728327|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26884178|PMID:27004399|PMID:27396511|PMID:27504877|PMID:28376765|PMID:28492532|PMID:29169765|PMID:29478780|PMID:29607586|PMID:30136158|PMID:31980526|PMID:33199492|PMID:7585650|PMID:7849702|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:635 acquired immunodeficiency syndrome susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.K751Q(human) PMID:20127180|REF_RGD_ID:5688740 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1319264 D RGD:9068941 20211217 RGD DNA:SNP:cd: 312A>G (human) PMID:28927037|REF_RGD_ID:150530503 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNPs:exon 23: p.K751Q (human) PMID:19919686|REF_RGD_ID:25671459 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNPs:exon 23: p.K751Q (human) PMID:25531380|REF_RGD_ID:25671460 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNPs:exon 23: p.K751Q (rs13181) (human) PMID:28598207|REF_RGD_ID:25671461 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:687 hepatoblastoma ISO RGD:1319264 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:24728327|PMID:25741868|PMID:28492532|PMID:29178624 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:83 cataract ISO RGD:1319265 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.2209T>C (p.S37P) (human) PMID:25951169|REF_RGD_ID:12880390 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:8552 chronic myeloid leukemia ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.K751Q (human) PMID:24955348|REF_RGD_ID:11252188 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:8552 chronic myeloid leukemia ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.K751Q (rs13181) (human) PMID:25311495|REF_RGD_ID:11060463 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9000011 Gallbladder Neoplasms ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNP: :p.D312N (rs1799793) (human) PMID:21283657|REF_RGD_ID:5688734 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9000217 Stomach Neoplasms ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17009404 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9001946 Skin Abnormalities ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17470448 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1319264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868|PMID:28492532 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNP: :p.K751Q (rs13181) (human) PMID:22739018|REF_RGD_ID:11252203 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNP: :p.K751Q (rs13181) (human) PMID:19484764|REF_RGD_ID:11252204 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17695467 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNP: :rs1799793(human) PMID:25881102|REF_RGD_ID:11252176 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9003386 Sunburn ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17470448 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9004464 Skin Neoplasms ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17050553 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:1319264 D RGD:9068941 20200609 RGD associated with Urinary Bladder Neoplasms;DNA:SNP: :p.K751Q (rs13181) (human) PMID:21047201|REF_RGD_ID:11098572 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9004814 Chromosome Aberrations susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD associated with arsenic induced Hyperkeratosis; DNA:polymorphism:cds:p. K751Q(human) PMID:17050553|REF_RGD_ID:12880393 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:haplotype:cds:p.K751Q(human) PMID:17498557|REF_RGD_ID:12880386 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9005463 Occupational Diseases ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16889696 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9005622 Congenital Ichthyosis with Trichothiodystrophy ISO RGD:1319264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS PMID:15982307|PMID:19931493|PMID:20944642|PMID:22234153|PMID:23039039|PMID:23221806|PMID:23232694|PMID:24033266|PMID:24728327|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26884178|PMID:27504877|PMID:28492532|PMID:29607586|PMID:31282071|PMID:31803976|PMID:7585650|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033|PMID:9651581 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9006169 Head and Neck Neoplasms severity ISO RGD:1319264 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:26659720|REF_RGD_ID:11573297 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions treatment ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNP: :p.K751Q (rs13181) (human) PMID:15339847|REF_RGD_ID:11252202 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions treatment ISO RGD:1319264 D RGD:9068941 20200609 RGD associated with Leukemia, Myeloid, Acute;DNA:SNPs, haplotypes: :p.D312N, p.K751Q (human) PMID:17197435|REF_RGD_ID:11252178 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9007364 Mouth Neoplasms susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.D312N,K751Q(human) PMID:17290401|REF_RGD_ID:8552678 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9007659 Anthracycline-induced Cardiotoxicity ISO RGD:1319264 D RGD:9068941 20200609 RGD associated with Leukemia, Myeloid, Acute;DNA:SNP:exon:p.K751Q (rs13181) (human) PMID:24284041|REF_RGD_ID:11252190 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9007715 Endometrial Neoplasms susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.R156R(human) PMID:26349749|REF_RGD_ID:12880439 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18267032 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.K751Q (rs13181) (human) PMID:19307510|REF_RGD_ID:11340203 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9119 acute myeloid leukemia ISO RGD:1319264 D RGD:9068941 20200609 RGD associated with Myeloproliferative Disorders;DNA:polymorphism: :p.K751Q (rs13181) (human) PMID:22496165|REF_RGD_ID:11252198 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :p.D312N, p.K751Q (human) PMID:21394217|REF_RGD_ID:11252209 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.K751Q (rs13181) (human) PMID:20141440|REF_RGD_ID:11252173 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9119 acute myeloid leukemia no_association ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.K751Q (rs13181) (human) PMID:23397959|REF_RGD_ID:11252193 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9256 colorectal cancer ISO RGD:1319264 D RGD:9068941 20221006 RGD mRNA:increased expression:colorectum (human) PMID:16951227|REF_RGD_ID:155260343 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9538 multiple myeloma disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.K751Q (rs13181) (human) PMID:22183071|REF_RGD_ID:11252199 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9655 oral mucosa leukoplakia susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.K751Q(human) PMID:17290401|REF_RGD_ID:8552678 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9669 senile cataract no_association ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.K751Q (human) PMID:21599457|REF_RGD_ID:10401083 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9669 senile cataract susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D312N (human) PMID:24868140|REF_RGD_ID:10401084 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:haplotype PMID:21987080|REF_RGD_ID:11340201 12306820 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.D312N, p.K751Q (human) PMID:19101034|REF_RGD_ID:11252192 12306847 PFDN1 prefoldin subunit 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1313729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12306847 PFDN1 prefoldin subunit 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12306847 PFDN1 prefoldin subunit 1 gene DOID:630 genetic disease ISO RGD:1313729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306847 PFDN1 prefoldin subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12306847 PFDN1 prefoldin subunit 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12306870 UCK2 uridine-cytidine kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1602230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12306870 UCK2 uridine-cytidine kinase 2 gene DOID:1793 pancreatic cancer ISO RGD:1602230 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic neoplasm (human) PMID:12149149|REF_RGD_ID:5133269 12306870 UCK2 uridine-cytidine kinase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1602230 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12306870 UCK2 uridine-cytidine kinase 2 gene DOID:630 genetic disease ISO RGD:1602230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306870 UCK2 uridine-cytidine kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1602230 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 12306870 UCK2 uridine-cytidine kinase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620742 D RGD:9068941 20200609 RGD protein:decreased activity:heart, skeletal muscle PMID:221781|REF_RGD_ID:2317214 12306870 UCK2 uridine-cytidine kinase 2 gene DOID:9006205 Animal Disease Models ISO RGD:1602230 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12306870 UCK2 uridine-cytidine kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12306887 NBN nibrin gene DOID:0014667 disease of metabolism ISO RGD:1348611 D RGD:9068941 20200609 RGD Nijmegen breakage syndrome, OMIM:251260, DNA:deletion:exon:nt657del5 PMID:9590180|REF_RGD_ID:1600219 12306887 NBN nibrin gene DOID:0050453 lissencephaly ISO RGD:1348611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11953735|PMID:12123493|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14973119|PMID:15185344|PMID:15279809|PMID:16033915|PMID:16544999|PMID:17103455|PMID:18606567|PMID:18940477|PMID:19635536|PMID:19908051|PMID:20444919|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:24033266|PMID:24113799|PMID:25485873|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26467025|PMID:26822949|PMID:26845104|PMID:27150568|PMID:27616075|PMID:28492532|PMID:28873162|PMID:29368341|PMID:29419426|PMID:30426508|PMID:31173646|PMID:32295079|PMID:33050356|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 12306887 NBN nibrin gene DOID:0080600 COVID-19 ISO RGD:1348611 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12306887 NBN nibrin gene DOID:10283 prostate cancer ISO RGD:1348611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:23555315|PMID:25741868|PMID:26467025|PMID:26976419|PMID:27148588|PMID:27443514|PMID:28492532|PMID:29522266|PMID:30287823 12306887 NBN nibrin gene DOID:10283 prostate cancer susceptibility ISO RGD:1348611 D RGD:9068941 20200609 RGD DNA:deletion, loss of heterozygosity PMID:14973119|REF_RGD_ID:2298995 12306887 NBN nibrin gene DOID:10534 stomach cancer ISO RGD:1348611 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:11279524|PMID:12433983|PMID:12708449|PMID:15048089|PMID:15758953|PMID:15964794|PMID:16199547|PMID:16415040|PMID:19105185|PMID:21035407|PMID:24033266|PMID:24763289|PMID:24894818|PMID:25741868|PMID:26689913|PMID:26786923|PMID:26976419|PMID:28492532|PMID:29625052|PMID:30287823|PMID:31214711|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32963463|PMID:33471991|PMID:36988593|PMID:9590180 12306887 NBN nibrin gene DOID:10652 Alzheimer's disease ISO RGD:1348611 D RGD:9068941 20200609 RGD PMID:15337312|REF_RGD_ID:2317734 12306887 NBN nibrin gene DOID:12449 aplastic anemia ISO RGD:1348611 D RGD:7240710 20180130 OMIM 12306887 NBN nibrin gene DOID:12449 aplastic anemia ISO RGD:1348611 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:11325820|PMID:14559852|PMID:15338273|PMID:16474176|PMID:16810201|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18049891|PMID:18280732|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19813148|PMID:19908051|PMID:21212067|PMID:21698754|PMID:22131123|PMID:22373003|PMID:23317186|PMID:23555315|PMID:24093751|PMID:24113799|PMID:24728327|PMID:24830725|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26722329|PMID:26976419|PMID:27109316|PMID:27153395|PMID:27443514|PMID:27616075|PMID:27621404|PMID:28076423|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28591191|PMID:28726808|PMID:29335925|PMID:29522266|PMID:29596542|PMID:29678143|PMID:29785153|PMID:30256826|PMID:30287823|PMID:30441849|PMID:30590007|PMID:30651582|PMID:31159747|PMID:31206626|PMID:31278556|PMID:31422574|PMID:32566746|PMID:33471991 12306887 NBN nibrin gene DOID:1520 colon carcinoma ISO RGD:1348611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:11325820|PMID:14559852|PMID:15338273|PMID:16474176|PMID:16810201|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18049891|PMID:18280732|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19813148|PMID:19908051|PMID:21212067|PMID:21698754|PMID:22131123|PMID:22373003|PMID:23317186|PMID:23555315|PMID:24093751|PMID:24113799|PMID:24728327|PMID:24830725|PMID:25619955|PMID:25712764|PMID:25741868|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26722329|PMID:27153395|PMID:27616075|PMID:27621404|PMID:28076423|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28591191|PMID:29335925|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30441849|PMID:30590007|PMID:30651582|PMID:31159747|PMID:32566746 12306887 NBN nibrin gene DOID:1612 breast cancer ISO RGD:1348611 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10398434|PMID:10799436|PMID:10839544|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12505263|PMID:12833396|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15185344|PMID:15474156|PMID:16033915|PMID:16415040|PMID:16544999|PMID:16770759|PMID:16810201|PMID:17103455|PMID:17496786|PMID:18003706|PMID:18606567|PMID:18940477|PMID:19452044|PMID:19584272|PMID:19635536|PMID:19804756|PMID:19908051|PMID:20444919|PMID:20805886|PMID:21302341|PMID:21664921|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:23525077|PMID:23555315|PMID:24033266|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24728327|PMID:24894818|PMID:25186627|PMID:25318351|PMID:25637381|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27150568|PMID:27443514|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28374160|PMID:28492532|PMID:28528518|PMID:28717660|PMID:28726808|PMID:28873162|PMID:29300386|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29522266|PMID:29596542|PMID:29758565|PMID:29929473|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30942098|PMID:31159747|PMID:31206626|PMID:31278556|PMID:31422574|PMID:31780696|PMID:31874108|PMID:32295079|PMID:32566746|PMID:32668560|PMID:33095795|PMID:33471991|PMID:9590180|PMID:9620777 12306887 NBN nibrin gene DOID:1612 breast cancer ISO RGD:1348611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12505263|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15185344|PMID:15279809|PMID:15474156|PMID:16033915|PMID:16415040|PMID:16544999|PMID:16770759|PMID:16810201|PMID:17103455|PMID:17496786|PMID:18003706|PMID:18606567|PMID:18940477|PMID:19452044|PMID:19584272|PMID:19635536|PMID:19804756|PMID:19908051|PMID:20444919|PMID:20805886|PMID:21302341|PMID:21664921|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:23525077|PMID:23555315|PMID:24033266|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24728327|PMID:24894818|PMID:25186627|PMID:25318351|PMID:25485873|PMID:25637381|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27150568|PMID:27443514|PMID:27616075|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28374160|PMID:28492532|PMID:28528518|PMID:28717660|PMID:28726808|PMID:28873162|PMID:29300386|PMID:29368341|PMID:29371908|PMID:29419426|PMID:29458332|PMID:29522266|PMID:29596542|PMID:29758565|PMID:29929473|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30942098|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31278556|PMID:31422574|PMID:31780696|PMID:31874108|PMID:32295079|PMID:32566746|PMID:32668560|PMID:33050356|PMID:33095795|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 12306887 NBN nibrin gene DOID:1612 breast cancer ISO RGD:1348611 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12505263|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15185344|PMID:15279809|PMID:15474156|PMID:16033915|PMID:16415040|PMID:16544999|PMID:16770759|PMID:16810201|PMID:17103455|PMID:17496786|PMID:18003706|PMID:18606567|PMID:18940477|PMID:19452044|PMID:19584272|PMID:19635536|PMID:19804756|PMID:19908051|PMID:20444919|PMID:20805886|PMID:21302341|PMID:21664921|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:23525077|PMID:23555315|PMID:24033266|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24728327|PMID:24894818|PMID:25186627|PMID:25318351|PMID:25485873|PMID:25637381|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27150568|PMID:27443514|PMID:27616075|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28374160|PMID:28492532|PMID:28528518|PMID:28717660|PMID:28726808|PMID:28873162|PMID:29300386|PMID:29368341|PMID:29371908|PMID:29419426|PMID:29458332|PMID:29522266|PMID:29596542|PMID:29758565|PMID:29929473|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30942098|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31278556|PMID:31422574|PMID:31780696|PMID:31874108|PMID:32295079|PMID:32566746|PMID:32668560|PMID:33050356|PMID:33095795|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:34646395|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 12306887 NBN nibrin gene DOID:1612 breast cancer ISO RGD:1348611 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12505263|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15185344|PMID:15279809|PMID:15474156|PMID:16033915|PMID:16415040|PMID:16544999|PMID:16770759|PMID:16810201|PMID:17103455|PMID:17496786|PMID:18003706|PMID:18606567|PMID:18940477|PMID:19452044|PMID:19584272|PMID:19635536|PMID:19804756|PMID:19908051|PMID:20444919|PMID:20805886|PMID:21302341|PMID:21664921|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:23525077|PMID:23555315|PMID:24033266|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24728327|PMID:24894818|PMID:25186627|PMID:25318351|PMID:25485873|PMID:25637381|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27150568|PMID:27443514|PMID:27616075|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28374160|PMID:28492532|PMID:28528518|PMID:28717660|PMID:28726808|PMID:28873162|PMID:29300386|PMID:29368341|PMID:29371908|PMID:29419426|PMID:29458332|PMID:29522266|PMID:29596542|PMID:29758565|PMID:29929473|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30942098|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31278556|PMID:31422574|PMID:31780696|PMID:31874108|PMID:32295079|PMID:32566746|PMID:32668560|PMID:32885271|PMID:33050356|PMID:33095795|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:34646395|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 12306887 NBN nibrin gene DOID:1612 breast cancer disease_progression ISO RGD:1348611 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:17337132|REF_RGD_ID:2298993 12306887 NBN nibrin gene DOID:1612 breast cancer susceptibility ISO RGD:1348611 D RGD:9068941 20200609 RGD DNA:SNP PMID:17932350|REF_RGD_ID:2298991 12306887 NBN nibrin gene DOID:1612 breast cancer susceptibility ISO RGD:1348611 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.I171V PMID:17899368|REF_RGD_ID:2298992 12306887 NBN nibrin gene DOID:1993 rectum cancer susceptibility ISO RGD:1348611 D RGD:9068941 20220303 RGD DNA:SNP:3'utr: (rs14448) (human) PMID:26735576|REF_RGD_ID:151361212 12306887 NBN nibrin gene DOID:2394 ovarian cancer ISO RGD:1348611 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:24349281|PMID:25741868|PMID:26467025|PMID:28135145|PMID:28492532|PMID:30982232|PMID:32885271|PMID:33471991 12306887 NBN nibrin gene DOID:3459 breast carcinoma ISO RGD:1348611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14559852|PMID:14973119|PMID:15185344|PMID:15279809|PMID:15338273|PMID:16033915|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16810201|PMID:17103455|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18049891|PMID:18280732|PMID:18606567|PMID:18940477|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19635536|PMID:19813148|PMID:19908051|PMID:20444919|PMID:21212067|PMID:21698754|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:23555315|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24728327|PMID:24830725|PMID:25485873|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26722329|PMID:26822949|PMID:26845104|PMID:27150568|PMID:27153395|PMID:27616075|PMID:27621404|PMID:28076423|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28591191|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29419426|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30426508|PMID:30441849|PMID:30590007|PMID:30651582|PMID:30980208|PMID:31159747|PMID:31173646|PMID:32295079|PMID:32566746|PMID:32658311|PMID:33050356|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 12306887 NBN nibrin gene DOID:4001 ovarian carcinoma ISO RGD:1348611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:16415040|PMID:28492532|PMID:9590180 12306887 NBN nibrin gene DOID:4905 pancreatic carcinoma ISO RGD:1348611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11953735|PMID:12123493|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14973119|PMID:15185344|PMID:15279809|PMID:16033915|PMID:16544999|PMID:17103455|PMID:18606567|PMID:18940477|PMID:19635536|PMID:19908051|PMID:20444919|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:24033266|PMID:24113799|PMID:25485873|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26467025|PMID:26822949|PMID:26845104|PMID:27150568|PMID:27616075|PMID:28492532|PMID:28873162|PMID:29368341|PMID:29419426|PMID:30426508|PMID:31173646|PMID:32295079|PMID:33050356|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 12306887 NBN nibrin gene DOID:5426 primary ovarian insufficiency ISO RGD:1348611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:16415040|PMID:28492532|PMID:29706645|PMID:9590180 12306887 NBN nibrin gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:732723 D RGD:9068941 20220825 MouseDO 12306887 NBN nibrin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:10398434|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12505263|PMID:12833396|PMID:14559852|PMID:14973119|PMID:15185344|PMID:15338273|PMID:16033915|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16810201|PMID:17103455|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18049891|PMID:18280732|PMID:18606567|PMID:18940477|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19635536|PMID:19813148|PMID:19908051|PMID:20444919|PMID:21212067|PMID:21698754|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22941933|PMID:23317186|PMID:23555315|PMID:23765759|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24549055|PMID:24728327|PMID:24830725|PMID:25186627|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26722329|PMID:26822949|PMID:26845104|PMID:27150568|PMID:27153395|PMID:27616075|PMID:27621404|PMID:28076423|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28591191|PMID:28873162|PMID:29335925|PMID:29522266|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30441849|PMID:30590007|PMID:30651582|PMID:30942098|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31666926|PMID:32068069|PMID:32295079|PMID:32566746|PMID:33309985|PMID:33800431|PMID:9536098|PMID:9590180|PMID:9620777 12306887 NBN nibrin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348611 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10398434|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12505263|PMID:12833396|PMID:14559852|PMID:14973119|PMID:15185344|PMID:15338273|PMID:16033915|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16810201|PMID:17001621|PMID:17103455|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18023021|PMID:18049891|PMID:18280732|PMID:18281469|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19635536|PMID:19813148|PMID:19908051|PMID:20444919|PMID:21212067|PMID:21302341|PMID:21698754|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23317186|PMID:23555315|PMID:23765759|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24549055|PMID:24728327|PMID:24830725|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26722329|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27150568|PMID:27153395|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29522266|PMID:29625052|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30651582|PMID:30942098|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31415627|PMID:31666926|PMID:32068069|PMID:32295079|PMID:32566746|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33800431|PMID:9536098|PMID:9590180|PMID:9620777 12306887 NBN nibrin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348611 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10398434|PMID:10799436|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12505263|PMID:12833396|PMID:14559852|PMID:14973119|PMID:15185344|PMID:15338273|PMID:16033915|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16810201|PMID:17001621|PMID:17103455|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18023021|PMID:18049891|PMID:18280732|PMID:18281469|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19635536|PMID:19813148|PMID:19908051|PMID:20444919|PMID:21212067|PMID:21302341|PMID:21698754|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23317186|PMID:23555315|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24549055|PMID:24728327|PMID:24830725|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25503501|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26722329|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27150568|PMID:27153395|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29522266|PMID:29625052|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30651582|PMID:30942098|PMID:30982232|PMID:31159747|PMID:31415627|PMID:31666926|PMID:32068069|PMID:32295079|PMID:32566746|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33800431|PMID:34072463|PMID:9536098|PMID:9590180|PMID:9620777 12306887 NBN nibrin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14559852|PMID:14973119|PMID:15185344|PMID:15279809|PMID:15338273|PMID:16033915|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16810201|PMID:17001621|PMID:17103455|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18023021|PMID:18049891|PMID:18280732|PMID:18281469|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19635536|PMID:19813148|PMID:19908051|PMID:20444919|PMID:21212067|PMID:21302341|PMID:21698754|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23317186|PMID:23555315|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24549055|PMID:24728327|PMID:24830725|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25326637|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26722329|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27150568|PMID:27153395|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29419426|PMID:29522266|PMID:29625052|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30306255|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30651582|PMID:30942098|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31415627|PMID:31666926|PMID:32068069|PMID:32295079|PMID:32566746|PMID:32906206|PMID:32980694|PMID:33050356|PMID:33309985|PMID:33471974|PMID:33471991|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9536098|PMID:9590180|PMID:9590181|PMID:9620777 12306887 NBN nibrin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348611 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14559852|PMID:14973119|PMID:15185344|PMID:15279809|PMID:15338273|PMID:16033915|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16810201|PMID:17001621|PMID:17103455|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18023021|PMID:18049891|PMID:18280732|PMID:18281469|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19635536|PMID:19813148|PMID:19908051|PMID:20444919|PMID:21212067|PMID:21302341|PMID:21698754|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23317186|PMID:23555315|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24549055|PMID:24728327|PMID:24830725|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26722329|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27150568|PMID:27153395|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29419426|PMID:29522266|PMID:29625052|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30306255|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30651582|PMID:30942098|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31415627|PMID:31666926|PMID:32068069|PMID:32295079|PMID:32566746|PMID:32906206|PMID:32980694|PMID:33050356|PMID:33309985|PMID:33471974|PMID:33471991|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9536098|PMID:9590180|PMID:9590181|PMID:9620777 12306887 NBN nibrin gene DOID:630 genetic disease ISO RGD:1348611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12306887 NBN nibrin gene DOID:684 hepatocellular carcinoma ISO RGD:1348611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11953735|PMID:12123493|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14973119|PMID:15185344|PMID:15279809|PMID:16033915|PMID:16544999|PMID:17103455|PMID:18606567|PMID:18940477|PMID:19635536|PMID:19908051|PMID:20444919|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:24033266|PMID:24113799|PMID:25485873|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26467025|PMID:26822949|PMID:26845104|PMID:27150568|PMID:27616075|PMID:28492532|PMID:28873162|PMID:29368341|PMID:29419426|PMID:30426508|PMID:31173646|PMID:32295079|PMID:33050356|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 12306887 NBN nibrin gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1348611 D RGD:7240710 20180130 OMIM 12306887 NBN nibrin gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1348611 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency PMID:10398434|PMID:10792024|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11288710|PMID:11325820|PMID:11952644|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12419185|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12708449|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15279770|PMID:15279809|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16188882|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17384674|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18003706|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18566737|PMID:18575580|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19105185|PMID:19151620|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19763152|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20307669|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21520333|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22406018|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23265383|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23720301|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25640679|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26265251|PMID:26270727|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28076792|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28801450|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29419426|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:2952226|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29678143|PMID:29706558|PMID:29706645|PMID:29758565|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30256826|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30875412|PMID:30942098|PMID:30952868|PMID:30980208|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31729086|PMID:31742824|PMID:31780696|PMID:31871109|PMID:31874108|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32668560|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32945065|PMID:32959997|PMID:32963463|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33206719|PMID:33309985|PMID:33359728|PMID:33471974|PMID:33471991|PMID:33558524 12306887 NBN nibrin gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1348611 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency PMID:33630411|PMID:33646313|PMID:33652732|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34169133|PMID:34204722|PMID:34350294|PMID:34426522|PMID:34439939|PMID:34544220|PMID:34646395|PMID:35309086|PMID:35467778|PMID:36346689|PMID:36988593|PMID:3802554|PMID:9523210|PMID:9536098|PMID:9590180|PMID:9590181|PMID:9620777 12306887 NBN nibrin gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14973119|PMID:25415046 12306887 NBN nibrin gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1348611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25415046 12306887 NBN nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398434|PMID:10799436|PMID:10839544|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12833396|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17429352|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21520333|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23765759|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29641532|PMID:29678143|PMID:29706558|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30651582|PMID:30942098|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31780696|PMID:31874108|PMID:32068069|PMID:32295079|PMID:32566746|PMID:32668560|PMID:32832836|PMID:32866190|PMID:32945065|PMID:32980694|PMID:33095795|PMID:33309985|PMID:33471991|PMID:33630411|PMID:33800431|PMID:34072463|PMID:3802554|PMID:9536098|PMID:9590180|PMID:9620777 12306887 NBN nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10398434|PMID:10799436|PMID:10839544|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11952644|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12708449|PMID:12833396|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18566737|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19105185|PMID:19151620|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23720301|PMID:23765759|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25326637|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26265251|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28873162|PMID:28888541|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:2952226|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29678143|PMID:29706558|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30942098|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31729086|PMID:31742824|PMID:31780696|PMID:31874108|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32668560|PMID:32832836|PMID:32866190|PMID:32906206|PMID:32945065|PMID:32980694|PMID:33095795|PMID:33309985|PMID:33359728|PMID:33471991|PMID:33630411|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34169133|PMID:34204722|PMID:3802554|PMID:9523210|PMID:9536098|PMID:9590180|PMID:9620777 12306887 NBN nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11288710|PMID:11325820|PMID:11952644|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12708449|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15279809|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16188882|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18003706|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18566737|PMID:18575580|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19105185|PMID:19151620|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23720301|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26265251|PMID:26270727|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28801450|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29419426|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:2952226|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29678143|PMID:29706558|PMID:29758565|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30256826|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30942098|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31729086|PMID:31742824|PMID:31780696|PMID:31871109|PMID:31874108|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32668560|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32945065|PMID:32959997|PMID:32963463|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33206719|PMID:33309985|PMID:33359728|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34169133|PMID:34204722|PMID:34350294|PMID:34426522|PMID:34439939|PMID:34544220|PMID:35309086|PMID:35467778|PMID:3802554|PMID:9523210|PMID:9536098|PMID:9590180|PMID:9590181|PMID:9620777 12306887 NBN nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11288710|PMID:11325820|PMID:11952644|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12708449|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15279809|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16188882|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18003706|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18566737|PMID:18575580|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19105185|PMID:19151620|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21520333|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23720301|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25326637|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26265251|PMID:26270727|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28801450|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29419426|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:2952226|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29678143|PMID:29706558|PMID:29758565|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30256826|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30942098|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31729086|PMID:31742824|PMID:31780696|PMID:31871109|PMID:31874108|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32668560|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32945065|PMID:32959997|PMID:32963463|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33206719|PMID:33309985|PMID:33359728|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34169133|PMID:34204722|PMID:34350294|PMID:34426522|PMID:34439939|PMID:34544220|PMID:35309086|PMID:35467778|PMID:3802554|PMID:9523210|PMID:9536098|PMID:9590180 12306887 NBN nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9590181|PMID:9620777 12306887 NBN nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11288710|PMID:11325820|PMID:11952644|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12708449|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15279809|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16188882|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18003706|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18566737|PMID:18575580|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19105185|PMID:19151620|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21520333|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23720301|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26265251|PMID:26270727|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28801450|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29419426|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:2952226|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29678143|PMID:29706558|PMID:29758565|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30256826|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30942098|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31729086|PMID:31742824|PMID:31780696|PMID:31871109|PMID:31874108|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32668560|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32945065|PMID:32959997|PMID:32963463|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33206719|PMID:33309985|PMID:33359728|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34169133|PMID:34204722|PMID:34350294|PMID:34426522|PMID:34439939|PMID:34544220|PMID:34646395|PMID:35309086|PMID:35467778|PMID:3802554|PMID:9523210|PMID:9536098|PMID:9590180 12306887 NBN nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11288710|PMID:11325820|PMID:11952644|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12708449|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15279809|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16188882|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18003706|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18566737|PMID:18575580|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19105185|PMID:19151620|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21520333|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23720301|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26265251|PMID:26270727|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28801450|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29419426|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:2952226|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29678143|PMID:29706558|PMID:29758565|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30256826|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30942098|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31729086|PMID:31742824|PMID:31780696|PMID:31871109|PMID:31874108|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32668560|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32945065|PMID:32959997|PMID:32963463|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33206719|PMID:33309985|PMID:33359728|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33646313|PMID:33652732|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34169133|PMID:34204722|PMID:34350294|PMID:34426522|PMID:34439939|PMID:34544220|PMID:34646395 12306887 NBN nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:35309086|PMID:35467778|PMID:36346689|PMID:36988593|PMID:3802554|PMID:9523210|PMID:9536098|PMID:9590180|PMID:9590181|PMID:9620777 12306887 NBN nibrin gene DOID:9008952 Breast Cancer, Familial ISO RGD:1348611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11953735|PMID:12123493|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14973119|PMID:15185344|PMID:15279809|PMID:16033915|PMID:16415040|PMID:16544999|PMID:17103455|PMID:18606567|PMID:18940477|PMID:19635536|PMID:19908051|PMID:20444919|PMID:20805886|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:23555315|PMID:24033266|PMID:24113799|PMID:25186627|PMID:25485873|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26822949|PMID:26845104|PMID:27150568|PMID:27616075|PMID:28135145|PMID:28492532|PMID:28726808|PMID:28873162|PMID:29300386|PMID:29368341|PMID:29419426|PMID:30374176|PMID:30426508|PMID:31173646|PMID:32295079|PMID:33050356|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 12306887 NBN nibrin gene DOID:9637 stomatitis ISO RGD:1348611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24594932 12306887 NBN nibrin gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1348611 D RGD:7240710 20230505 OMIM 12306887 NBN nibrin gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1348611 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to PMID:11325820|PMID:14559852|PMID:15338273|PMID:16415040|PMID:16474176|PMID:16810201|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18049891|PMID:18280732|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19813148|PMID:19908051|PMID:21212067|PMID:21698754|PMID:22131123|PMID:22373003|PMID:23317186|PMID:23555315|PMID:24093751|PMID:24113799|PMID:24549055|PMID:24728327|PMID:24830725|PMID:25619955|PMID:25712764|PMID:25741868|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26722329|PMID:27153395|PMID:27616075|PMID:27621404|PMID:28076423|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28591191|PMID:29335925|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30441849|PMID:30590007|PMID:30651582|PMID:31159747|PMID:32566746|PMID:34072463|PMID:9590180 12306921 CBARP CACN subunit beta associated regulatory protein gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1316225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 12306921 CBARP CACN subunit beta associated regulatory protein gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1316225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome 12306921 CBARP CACN subunit beta associated regulatory protein gene DOID:5339 cyclic hematopoiesis ISO RGD:1316225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12306921 CBARP CACN subunit beta associated regulatory protein gene DOID:630 genetic disease ISO RGD:1316225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306932 LRCOL1 leucine rich colipase like 1 gene DOID:630 genetic disease ISO RGD:6770658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306932 LRCOL1 leucine rich colipase like 1 gene DOID:9256 colorectal cancer ISO RGD:6770658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 12306943 POGK pogo transposable element derived with KRAB domain gene DOID:1540 parathyroid carcinoma ISO RGD:1319023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12306943 POGK pogo transposable element derived with KRAB domain gene DOID:630 genetic disease ISO RGD:1319023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306943 POGK pogo transposable element derived with KRAB domain gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12306960 RND2 Rho family GTPase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1346063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 12306960 RND2 Rho family GTPase 2 gene DOID:630 genetic disease ISO RGD:1346063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306969 FLVCR1 FLVCR heme transporter 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:27666822 12306969 FLVCR1 FLVCR heme transporter 1 gene DOID:0050817 Stargardt disease ISO RGD:1606303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:30718709 12306969 FLVCR1 FLVCR heme transporter 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1606303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868 12306969 FLVCR1 FLVCR heme transporter 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1618983 D RGD:9068941 20220825 MouseDO OMIM:105650 | OMIM:606129 | OMIM:610629 | OMIM:612527 | OMIM:612528 | OMIM:612561 | OMIM:612562 | OMIM:612563 | OMIM:613308 | OMIM:613309 | OMIM:614900 | OMIM:615550 | OMIM:615909 12306969 FLVCR1 FLVCR heme transporter 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12306969 FLVCR1 FLVCR heme transporter 1 gene DOID:2491 sensory peripheral neuropathy ISO RGD:1606303 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sensory neuropathy PMID:25741868 12306969 FLVCR1 FLVCR heme transporter 1 gene DOID:630 genetic disease ISO RGD:1606303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21070897|PMID:21267618|PMID:22279524|PMID:22483575|PMID:24628582|PMID:25741868|PMID:26467025|PMID:27923065|PMID:28492532|PMID:28559085|PMID:30656474|PMID:31408049|PMID:32822874|PMID:9409377 12306969 FLVCR1 FLVCR heme transporter 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1606303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12306969 FLVCR1 FLVCR heme transporter 1 gene DOID:8501 fundus dystrophy ISO RGD:1606303 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:23591405|PMID:25741868|PMID:26467025|PMID:27353947|PMID:28492532|PMID:28766925|PMID:29192808|PMID:30356807|PMID:30656474|PMID:31884612|PMID:31963381|PMID:32037395|PMID:32531858|PMID:32984570|PMID:9536098 12306969 FLVCR1 FLVCR heme transporter 1 gene DOID:9008679 Posterior Column Ataxia with Retinitis Pigmentosa ISO RGD:1606303 D RGD:7240710 20180130 OMIM 12306969 FLVCR1 FLVCR heme transporter 1 gene DOID:9008679 Posterior Column Ataxia with Retinitis Pigmentosa ISO RGD:1606303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Posterior column ataxia with retinitis pigmentosa PMID:17576681|PMID:21070897|PMID:21267618|PMID:22279524|PMID:22483575|PMID:23591405|PMID:24628582|PMID:25741868|PMID:26467025|PMID:27353947|PMID:27923065|PMID:28492532|PMID:28559085|PMID:28766925|PMID:29192808|PMID:30356807|PMID:30444160|PMID:30656474|PMID:31408049|PMID:31884612|PMID:31963381|PMID:32037395|PMID:32531858|PMID:32822874|PMID:32984570|PMID:9409377|PMID:9536098|PMID:9855554 12306969 FLVCR1 FLVCR heme transporter 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12306983 PSMA5 proteasome 20S subunit alpha 5 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:734293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12306983 PSMA5 proteasome 20S subunit alpha 5 gene DOID:11476 osteoporosis ISO RGD:734293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12306983 PSMA5 proteasome 20S subunit alpha 5 gene DOID:12849 autistic disorder ISO RGD:734293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12306983 PSMA5 proteasome 20S subunit alpha 5 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:734293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12306983 PSMA5 proteasome 20S subunit alpha 5 gene DOID:630 genetic disease ISO RGD:734293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12306983 PSMA5 proteasome 20S subunit alpha 5 gene DOID:9452 fatty liver disease ISO RGD:734293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12307020 GCNA germ cell nuclear acidic peptidase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12307020 GCNA germ cell nuclear acidic peptidase gene DOID:0070168 spermatogenic failure 3 ISO RGD:1346265 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:34413498 12307020 GCNA germ cell nuclear acidic peptidase gene DOID:12849 autistic disorder ISO RGD:1346265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12307020 GCNA germ cell nuclear acidic peptidase gene DOID:14227 azoospermia ISO RGD:1346265 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Azoospermia PMID:35172124 12307020 GCNA germ cell nuclear acidic peptidase gene DOID:630 genetic disease ISO RGD:1346265 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307020 GCNA germ cell nuclear acidic peptidase gene DOID:9001624 X-Linked Spermatogenic Failure 4 ISO RGD:1346265 D RGD:7240710 20220427 OMIM 12307020 GCNA germ cell nuclear acidic peptidase gene DOID:9001624 X-Linked Spermatogenic Failure 4 ISO RGD:1346265 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 4 PMID:34413498|PMID:35172124 12307102 TFPI tissue factor pathway inhibitor gene DOID:0050156 idiopathic pulmonary fibrosis severity ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:increased expression:Bronchoalveolar lavage,epithelial cell: PMID:10946084|REF_RGD_ID:11060143 12307102 TFPI tissue factor pathway inhibitor gene DOID:0060224 atrial fibrillation ISO RGD:61914 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:endocardium: PMID:14610015|REF_RGD_ID:1299121 12307102 TFPI tissue factor pathway inhibitor gene DOID:0080630 B-lymphoblastic leukemia/lymphoma treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:19874310|REF_RGD_ID:11341694 12307102 TFPI tissue factor pathway inhibitor gene DOID:0081267 graft-versus-host disease treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:20037809|REF_RGD_ID:11340209 12307102 TFPI tissue factor pathway inhibitor gene DOID:0111144 preterm premature rupture of the membranes ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19012190|REF_RGD_ID:11340215 12307102 TFPI tissue factor pathway inhibitor gene DOID:0111902 thrombophilia due to activated protein C resistance ISO RGD:1344546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11703344 12307102 TFPI tissue factor pathway inhibitor gene DOID:10591 pre-eclampsia ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:10078579|REF_RGD_ID:11060132 12307102 TFPI tissue factor pathway inhibitor gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:1344546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7740478 12307102 TFPI tissue factor pathway inhibitor gene DOID:10772 thrombotic thrombocytopenic purpura treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:7740478|REF_RGD_ID:11340214 12307102 TFPI tissue factor pathway inhibitor gene DOID:11247 disseminated intravascular coagulation ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:11074537|REF_RGD_ID:11060128 12307102 TFPI tissue factor pathway inhibitor gene DOID:11247 disseminated intravascular coagulation ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:8914465|REF_RGD_ID:11060253 12307102 TFPI tissue factor pathway inhibitor gene DOID:11247 disseminated intravascular coagulation ISO RGD:61914 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, plasma PMID:9426395|REF_RGD_ID:11060265 12307102 TFPI tissue factor pathway inhibitor gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:8292719|PMID:8929465|REF_RGD_ID:11062067|REF_RGD_ID:11341674 12307102 TFPI tissue factor pathway inhibitor gene DOID:1168 familial hyperlipidemia ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:8914465|REF_RGD_ID:11060253 12307102 TFPI tissue factor pathway inhibitor gene DOID:1184 nephrotic syndrome ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22319062|REF_RGD_ID:11341665 12307102 TFPI tissue factor pathway inhibitor gene DOID:12134 factor VIII deficiency ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:24263002|REF_RGD_ID:11060141 12307102 TFPI tissue factor pathway inhibitor gene DOID:12134 factor VIII deficiency ISO RGD:62207 D RGD:9068941 20200609 RGD PMID:22355108|REF_RGD_ID:11060147 12307102 TFPI tissue factor pathway inhibitor gene DOID:12134 factor VIII deficiency treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:24687919|REF_RGD_ID:11060256 12307102 TFPI tissue factor pathway inhibitor gene DOID:1240 leukemia treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:18549615|REF_RGD_ID:11060254 12307102 TFPI tissue factor pathway inhibitor gene DOID:1240 leukemia treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:decreased activity:plasma: PMID:12206017|REF_RGD_ID:11060255 12307102 TFPI tissue factor pathway inhibitor gene DOID:14115 toxic shock syndrome treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:11776329|REF_RGD_ID:11062085 12307102 TFPI tissue factor pathway inhibitor gene DOID:14566 disease of cellular proliferation ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:11864704|REF_RGD_ID:11060133 12307102 TFPI tissue factor pathway inhibitor gene DOID:2216 factor V deficiency ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:18695002|REF_RGD_ID:11060145 12307102 TFPI tissue factor pathway inhibitor gene DOID:224 transient cerebral ischemia treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:18067952|REF_RGD_ID:11062087 12307102 TFPI tissue factor pathway inhibitor gene DOID:2451 protein S deficiency ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:23079294|REF_RGD_ID:11060129 12307102 TFPI tissue factor pathway inhibitor gene DOID:2451 protein S deficiency ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:20002538|REF_RGD_ID:11060140 12307102 TFPI tissue factor pathway inhibitor gene DOID:3770 pulmonary fibrosis treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:16338226|REF_RGD_ID:11062084 12307102 TFPI tissue factor pathway inhibitor gene DOID:5082 liver cirrhosis ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:23841464|REF_RGD_ID:11060135 12307102 TFPI tissue factor pathway inhibitor gene DOID:5425 ovarian hyperstimulation syndrome severity ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:12695751|REF_RGD_ID:11340210 12307102 TFPI tissue factor pathway inhibitor gene DOID:5844 myocardial infarction ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:14656922|PMID:15630488|REF_RGD_ID:11060131|REF_RGD_ID:11060139 12307102 TFPI tissue factor pathway inhibitor gene DOID:5844 myocardial infarction treatment ISO RGD:61914 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart: PMID:21229253|REF_RGD_ID:11062083 12307102 TFPI tissue factor pathway inhibitor gene DOID:630 genetic disease ISO RGD:1344546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307102 TFPI tissue factor pathway inhibitor gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1344546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12307102 TFPI tissue factor pathway inhibitor gene DOID:9001268 Embolism and Thrombosis ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:15467899|REF_RGD_ID:11341677 12307102 TFPI tissue factor pathway inhibitor gene DOID:9001650 Pregnancy-Induced Hypertension ISO RGD:61914 D RGD:9068941 20200609 RGD mRNA:decreased expression:aorta: PMID:26104991|REF_RGD_ID:11062065 12307102 TFPI tissue factor pathway inhibitor gene DOID:9001916 Fetal Death ISO RGD:62207 D RGD:9068941 20200609 RGD associated with Hemorrhage; PMID:9242522|REF_RGD_ID:11060259 12307102 TFPI tissue factor pathway inhibitor gene DOID:9002159 Liver Reperfusion Injury ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:9921794|REF_RGD_ID:11062061 12307102 TFPI tissue factor pathway inhibitor gene DOID:9002514 Neointima ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:10521388|REF_RGD_ID:11060274 12307102 TFPI tissue factor pathway inhibitor gene DOID:9002514 Neointima treatment ISO RGD:61914 D RGD:9068941 20200609 RGD PMID:22140576|REF_RGD_ID:11341672 12307102 TFPI tissue factor pathway inhibitor gene DOID:9002669 Hypoxia ISO RGD:1344546 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23727623 12307102 TFPI tissue factor pathway inhibitor gene DOID:9003049 Femur Head Necrosis ISO RGD:61914 D RGD:9068941 20200609 RGD protein:increased expression:femur head: PMID:23063054|REF_RGD_ID:11062059 12307102 TFPI tissue factor pathway inhibitor gene DOID:9003049 Femur Head Necrosis susceptibility ISO RGD:1344546 D RGD:9068941 20200609 RGD DNA:haplotype: : PMID:18695356|REF_RGD_ID:11060260 12307102 TFPI tissue factor pathway inhibitor gene DOID:9003505 Venous Thromboembolism ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:14691572|REF_RGD_ID:11060266 12307102 TFPI tissue factor pathway inhibitor gene DOID:9003871 Venous Thrombosis ISO RGD:1344546 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18480984 12307102 TFPI tissue factor pathway inhibitor gene DOID:9003871 Venous Thrombosis ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:12560220|REF_RGD_ID:11060137 12307102 TFPI tissue factor pathway inhibitor gene DOID:9003871 Venous Thrombosis ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:18600090|REF_RGD_ID:11060130 12307102 TFPI tissue factor pathway inhibitor gene DOID:9003871 Venous Thrombosis ISO RGD:62207 D RGD:9068941 20200609 RGD PMID:17973652|REF_RGD_ID:11060257 12307102 TFPI tissue factor pathway inhibitor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12307102 TFPI tissue factor pathway inhibitor gene DOID:9004484 Sepsis ISO RGD:61914 D RGD:9068941 20200609 RGD protein:decreased activity:plasma: PMID:15497025|REF_RGD_ID:2313648 12307102 TFPI tissue factor pathway inhibitor gene DOID:9005700 Airway Obstruction ISO RGD:1344546 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23727623 12307102 TFPI tissue factor pathway inhibitor gene DOID:9005700 Airway Obstruction treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:23727623|REF_RGD_ID:11062088 12307102 TFPI tissue factor pathway inhibitor gene DOID:9005930 Endotoxemia treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:17537762|REF_RGD_ID:11062086 12307102 TFPI tissue factor pathway inhibitor gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:11796005|REF_RGD_ID:11062062 12307102 TFPI tissue factor pathway inhibitor gene DOID:9007730 Burns ISO RGD:61914 D RGD:9068941 20200609 RGD protein:decreased activity:plasma: PMID:15497025|REF_RGD_ID:2313648 12307102 TFPI tissue factor pathway inhibitor gene DOID:9008691 Liver Injury treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:10216139|REF_RGD_ID:11341667 12307102 TFPI tissue factor pathway inhibitor gene DOID:9074 systemic lupus erythematosus ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:11709459|REF_RGD_ID:11060258 12307102 TFPI tissue factor pathway inhibitor gene DOID:9351 diabetes mellitus ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:8914465|REF_RGD_ID:11060253 12307126 TRAPPC12 trafficking protein particle complex subunit 12 gene DOID:0111881 Diamond-Blackfan anemia 8 ISO RGD:1343529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 PMID:28492532 12307126 TRAPPC12 trafficking protein particle complex subunit 12 gene DOID:10908 hydrocephalus ISO RGD:1343529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe hydrocephalus 12307126 TRAPPC12 trafficking protein particle complex subunit 12 gene DOID:630 genetic disease ISO RGD:1343529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:28777934|PMID:32369837 12307126 TRAPPC12 trafficking protein particle complex subunit 12 gene DOID:9002202 Opsismodysplasia ISO RGD:1343529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Opsismodysplasia PMID:28777934 12307126 TRAPPC12 trafficking protein particle complex subunit 12 gene DOID:9008447 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY ISO RGD:1343529 D RGD:7240710 20190315 OMIM 12307126 TRAPPC12 trafficking protein particle complex subunit 12 gene DOID:9008447 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY ISO RGD:1343529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | ClinVar Annotator: match by term: Progressive childhood encephalopathy PMID:17576681|PMID:25614871|PMID:25741868|PMID:28492532|PMID:28777934|PMID:32347653|PMID:32369837|PMID:9536098 12307152 C2CD4A C2 calcium dependent domain containing 4A gene DOID:10485 esophageal atresia ISO RGD:1606712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12307152 C2CD4A C2 calcium dependent domain containing 4A gene DOID:2717 Bloom syndrome ISO RGD:1606712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12307152 C2CD4A C2 calcium dependent domain containing 4A gene DOID:630 genetic disease ISO RGD:1606712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307152 C2CD4A C2 calcium dependent domain containing 4A gene DOID:9256 colorectal cancer ISO RGD:1606712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12307152 C2CD4A C2 calcium dependent domain containing 4A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1606712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20818381 12307164 IFT20 intraflagellar transport 20 gene DOID:630 genetic disease ISO RGD:1605017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307179 GK glycerol kinase gene DOID:0060363 glycerol kinase deficiency ISO RGD:1344759 D RGD:7240710 20180130 OMIM 12307179 GK glycerol kinase gene DOID:0060363 glycerol kinase deficiency ISO RGD:1344759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of glycerol kinase PMID:10736265|PMID:10737976|PMID:25741868|PMID:8651297|PMID:9719371 12307179 GK glycerol kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12307179 GK glycerol kinase gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1344759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 12307179 GK glycerol kinase gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1344759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 12307179 GK glycerol kinase gene DOID:12849 autistic disorder ISO RGD:1344759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12307179 GK glycerol kinase gene DOID:13810 familial hypercholesterolemia ISO RGD:70893 D RGD:9068941 20200609 RGD PMID:10642898|REF_RGD_ID:13702898 12307179 GK glycerol kinase gene DOID:630 genetic disease ISO RGD:1344759 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12307179 GK glycerol kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12307179 GK glycerol kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12307179 GK glycerol kinase gene DOID:9007102 Myocardial Ischemia ISO RGD:1344759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12307179 GK glycerol kinase gene DOID:9008086 Developmental Disabilities ISO RGD:1344759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12307179 GK glycerol kinase gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1344759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 12307209 PTPRD protein tyrosine phosphatase receptor type D gene DOID:0050425 restless legs syndrome ISO RGD:1348083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18660810 12307209 PTPRD protein tyrosine phosphatase receptor type D gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1348083 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12307209 PTPRD protein tyrosine phosphatase receptor type D gene DOID:10283 prostate cancer ISO RGD:1348083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12307209 PTPRD protein tyrosine phosphatase receptor type D gene DOID:1059 intellectual disability ISO RGD:1348083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12307209 PTPRD protein tyrosine phosphatase receptor type D gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1348083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19546859 12307209 PTPRD protein tyrosine phosphatase receptor type D gene DOID:630 genetic disease ISO RGD:1348083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307209 PTPRD protein tyrosine phosphatase receptor type D gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12307209 PTPRD protein tyrosine phosphatase receptor type D gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 12307209 PTPRD protein tyrosine phosphatase receptor type D gene DOID:9008939 Breast Neoplasms ISO RGD:1348083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 12307270 MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1322701 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12307270 MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:0080600 COVID-19 ISO RGD:1322701 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12307270 MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:543 dystonia ISO RGD:1322701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12307270 MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:6000 congestive heart failure ISO RGD:1322701 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12307270 MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:630 genetic disease ISO RGD:1322701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307270 MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:684 hepatocellular carcinoma ISO RGD:1311313 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:3878730|REF_RGD_ID:2302305 12307270 MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:8567 Hodgkin's lymphoma ISO RGD:1322701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24688052 12307270 MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1322701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12307288 PNOC prepronociceptin gene DOID:0060001 withdrawal disorder ISO RGD:733566 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10680585 12307288 PNOC prepronociceptin gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:733566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12307288 PNOC prepronociceptin gene DOID:0080855 Parkinsonism ISO RGD:733566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26687234 12307288 PNOC prepronociceptin gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:733566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12307288 PNOC prepronociceptin gene DOID:630 genetic disease ISO RGD:733566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307288 PNOC prepronociceptin gene DOID:8927 learning disability ISO RGD:733566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10401555 12307288 PNOC prepronociceptin gene DOID:9000641 Pain ISO RGD:733566 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19231294 12307288 PNOC prepronociceptin gene DOID:9001579 Neurogenic Inflammation ISO RGD:733566 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11973003 12307288 PNOC prepronociceptin gene DOID:9001600 Wounds and Injuries ISO RGD:3362 D RGD:9068941 20200609 RGD protein:decreased expression:hypothalamus: PMID:11931711|REF_RGD_ID:9835019 12307288 PNOC prepronociceptin gene DOID:9002211 Hyperalgesia ISO RGD:733566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12665541|PMID:19231294 12307288 PNOC prepronociceptin gene DOID:9006024 Hypotension ISO RGD:733566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10794074 12307288 PNOC prepronociceptin gene DOID:9008023 Memory Disorders ISO RGD:733566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10401555 12307305 PRF1 perforin 1 gene DOID:0050120 hemophagocytic lymphohistiocytosis ISO RGD:1553597 D RGD:9068941 20200609 RGD associated with Lymphocytic Choriomeningitis PMID:20049711|REF_RGD_ID:6482810 12307305 PRF1 perforin 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1350272 D RGD:7240710 20180130 OMIM 12307305 PRF1 perforin 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1350272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoma, non-Hodgkin, familial PMID:25741868 12307305 PRF1 perforin 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1350272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24211274 12307305 PRF1 perforin 1 gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1350272 D RGD:7240710 20180130 OMIM 12307305 PRF1 perforin 1 gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1350272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 | ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to PMID:10583959|PMID:11179007|PMID:1156555|PMID:11565555|PMID:11756153|PMID:11841437|PMID:12060139|PMID:12229880|PMID:12599189|PMID:12716377|PMID:14576041|PMID:14739222|PMID:14757862|PMID:15077010|PMID:15205266|PMID:15342365|PMID:15365097|PMID:15459303|PMID:15609274|PMID:15632205|PMID:15659737|PMID:15718147|PMID:15728124|PMID:15755277|PMID:15755897|PMID:15924140|PMID:16278825|PMID:16374518|PMID:16443553|PMID:16720836|PMID:16860143|PMID:17164654|PMID:17266056|PMID:17311987|PMID:17328077|PMID:17356398|PMID:17475905|PMID:17477373|PMID:17525286|PMID:17576681|PMID:17601962|PMID:17606450|PMID:17627755|PMID:17674359|PMID:17873118|PMID:18074390|PMID:18190960|PMID:18496551|PMID:18710388|PMID:18799942|PMID:18927437|PMID:19487666|PMID:19595804|PMID:19639728|PMID:20015888|PMID:20019066|PMID:20092789|PMID:20197201|PMID:20638125|PMID:21152410|PMID:21157294|PMID:21234777|PMID:21674762|PMID:21881043|PMID:21931115|PMID:21959744|PMID:22186995|PMID:22249210|PMID:22437823|PMID:22970278|PMID:23073044|PMID:23073290|PMID:23160464|PMID:23180437|PMID:23255033|PMID:23264592|PMID:23287865|PMID:23443029|PMID:23592409|PMID:24033266|PMID:24215106|PMID:24309606|PMID:24390453|PMID:24578718|PMID:24744671|PMID:24916509|PMID:25047945|PMID:25215106|PMID:25233452|PMID:25297583|PMID:25326635|PMID:25326637|PMID:25354579|PMID:25577959|PMID:25741868|PMID:25776844|PMID:25845254|PMID:25937001|PMID:26184781|PMID:26199792|PMID:26221353|PMID:26342526|PMID:26450956|PMID:26684649|PMID:26739415|PMID:26903364|PMID:27033761|PMID:27209435|PMID:27271812|PMID:27290639|PMID:27391055|PMID:27535533|PMID:27577878|PMID:27622035|PMID:27896523|PMID:28353193|PMID:28492532|PMID:28750028|PMID:29095814|PMID:29113160|PMID:29152263|PMID:29239076|PMID:29263817|PMID:29357941|PMID:29665027|PMID:30104219|PMID:30539918|PMID:30697212|PMID:30849948|PMID:30899265|PMID:31388699|PMID:31395954|PMID:31664448|PMID:31789783|PMID:32150605|PMID:32356861|PMID:32375849|PMID:32542393|PMID:32638196|PMID:32963807|PMID:33225392|PMID:33365035|PMID:33658321|PMID:33746956|PMID:33869605|PMID:34170459|PMID:34938098|PMID:7851014|PMID:9536098 12307305 PRF1 perforin 1 gene DOID:10113 trypanosomiasis ISO RGD:1553597 D RGD:9068941 20200609 RGD PMID:19651871|REF_RGD_ID:6482814 12307305 PRF1 perforin 1 gene DOID:12365 malaria ISO RGD:1553597 D RGD:9068941 20200609 RGD PMID:21525386|REF_RGD_ID:6482803 12307305 PRF1 perforin 1 gene DOID:12449 aplastic anemia ISO RGD:1350272 D RGD:7240710 20180130 OMIM 12307305 PRF1 perforin 1 gene DOID:12449 aplastic anemia ISO RGD:1350272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:10583959|PMID:11179007|PMID:1156555|PMID:11756153|PMID:14576041|PMID:14757862|PMID:15205266|PMID:15365097|PMID:15632205|PMID:15728124|PMID:15755897|PMID:16278825|PMID:16374518|PMID:16443553|PMID:16860143|PMID:17266056|PMID:17311987|PMID:17477373|PMID:17525286|PMID:17873118|PMID:18190960|PMID:18710388|PMID:19487666|PMID:19595804|PMID:21674762|PMID:21881043|PMID:21959744|PMID:22437823|PMID:23073290|PMID:23255033|PMID:23264592|PMID:23443029|PMID:23592409|PMID:24744671|PMID:24916509|PMID:25233452|PMID:25741868|PMID:26184781|PMID:26221353|PMID:27033761|PMID:27577878|PMID:27622035|PMID:28492532|PMID:29113160|PMID:29239076|PMID:29357941|PMID:29665027|PMID:30899265|PMID:31395954|PMID:32375849|PMID:33225392|PMID:34170459 12307305 PRF1 perforin 1 gene DOID:12849 autistic disorder ISO RGD:1350272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18762240 12307305 PRF1 perforin 1 gene DOID:13636 Fanconi anemia ISO RGD:1350272 D RGD:9068941 20200609 RGD PMID:21542827|REF_RGD_ID:6482802 12307305 PRF1 perforin 1 gene DOID:1520 colon carcinoma ISO RGD:708463 D RGD:9068941 20200609 RGD PMID:22420317|REF_RGD_ID:6482822 12307305 PRF1 perforin 1 gene DOID:2377 multiple sclerosis ISO RGD:1350272 D RGD:9068941 20200609 RGD DNA:SNPs:introns:c.-5+321C>T, c.539+82C>T (rs3758562, rs10999426) (human) PMID:20921521|REF_RGD_ID:6482820 12307305 PRF1 perforin 1 gene DOID:2377 multiple sclerosis ISO RGD:1350272 D RGD:9068941 20200609 RGD protein:increased expression:blood, T cell PMID:22001684|REF_RGD_ID:6482817 12307305 PRF1 perforin 1 gene DOID:2377 multiple sclerosis ISO RGD:1553597 D RGD:9068941 20200609 RGD PMID:19680139|REF_RGD_ID:6482805 12307305 PRF1 perforin 1 gene DOID:2377 multiple sclerosis ISO RGD:1553597 D RGD:9068941 20220825 MouseDO OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810 12307305 PRF1 perforin 1 gene DOID:2841 asthma ISO RGD:1553597 D RGD:9068941 20200609 RGD PMID:22250087|REF_RGD_ID:6482815 12307305 PRF1 perforin 1 gene DOID:2841 asthma ISO RGD:708463 D RGD:9068941 20200609 RGD PMID:21426642|REF_RGD_ID:6482818 12307305 PRF1 perforin 1 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:708463 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:10886554|REF_RGD_ID:1599935 12307305 PRF1 perforin 1 gene DOID:2921 glomerulonephritis ISO RGD:708463 D RGD:9068941 20200609 RGD PMID:17622272|REF_RGD_ID:6482824 12307305 PRF1 perforin 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1350272 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10583959|PMID:11179007|PMID:1156555|PMID:11565555|PMID:12060139|PMID:12229880|PMID:12599189|PMID:14739222|PMID:14757862|PMID:15077010|PMID:15342365|PMID:15365097|PMID:15459303|PMID:15659737|PMID:15728124|PMID:15755277|PMID:15755897|PMID:16278825|PMID:16374518|PMID:16720836|PMID:16860143|PMID:17164654|PMID:17311987|PMID:17475905|PMID:17477373|PMID:17674359|PMID:17873118|PMID:18496551|PMID:18799942|PMID:18927437|PMID:19487666|PMID:20019066|PMID:20197201|PMID:21234777|PMID:21674762|PMID:21881043|PMID:22437823|PMID:22970278|PMID:23255033|PMID:23287865|PMID:23443029|PMID:23592409|PMID:24033266|PMID:24309606|PMID:24916509|PMID:25047945|PMID:25233452|PMID:25741868|PMID:25776844|PMID:25845254|PMID:25937001|PMID:26184781|PMID:26221353|PMID:26450956|PMID:26684649|PMID:27271812|PMID:27391055|PMID:27535533|PMID:28492532|PMID:29263817|PMID:29357941|PMID:31395954|PMID:31664448|PMID:32150605|PMID:32356861|PMID:32542393|PMID:32638196|PMID:33658321|PMID:33746956|PMID:34938098|PMID:7851014 12307305 PRF1 perforin 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1350272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10583959|PMID:11179007|PMID:1156555|PMID:11565555|PMID:12060139|PMID:12229880|PMID:12599189|PMID:12716377|PMID:14739222|PMID:14757862|PMID:15077010|PMID:15342365|PMID:15365097|PMID:15459303|PMID:15659737|PMID:15728124|PMID:15755277|PMID:15755897|PMID:16278825|PMID:16374518|PMID:16720836|PMID:16860143|PMID:17164654|PMID:17311987|PMID:17475905|PMID:17477373|PMID:17525286|PMID:17606450|PMID:17674359|PMID:17873118|PMID:18496551|PMID:18799942|PMID:18927437|PMID:19487666|PMID:20019066|PMID:20092789|PMID:20197201|PMID:21234777|PMID:21674762|PMID:21881043|PMID:22249210|PMID:22437823|PMID:22970278|PMID:23255033|PMID:23287865|PMID:23443029|PMID:23592409|PMID:24033266|PMID:24309606|PMID:24916509|PMID:25047945|PMID:25233452|PMID:25741868|PMID:25776844|PMID:25845254|PMID:25937001|PMID:26184781|PMID:26221353|PMID:26342526|PMID:26450956|PMID:26684649|PMID:26739415|PMID:27271812|PMID:27391055|PMID:27535533|PMID:28492532|PMID:29263817|PMID:29357941|PMID:29665027|PMID:31388699|PMID:31395954|PMID:31664448|PMID:32150605|PMID:32356861|PMID:32542393|PMID:32638196|PMID:33225392|PMID:33658321|PMID:33746956|PMID:34938098|PMID:7851014 12307305 PRF1 perforin 1 gene DOID:4330 non-Langerhans-cell histiocytosis ISO RGD:1350272 D RGD:9068941 20200609 RGD DNA:deletion, nonsense mutation, missense mutations: ; Lymphohistiocytosis, Hemophagocytic, OMIM:603553 PMID:11179007|REF_RGD_ID:1599929 12307305 PRF1 perforin 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1350272 D RGD:9068941 20200609 RGD PMID:20523897|REF_RGD_ID:6482808 12307305 PRF1 perforin 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1350272 D RGD:9068941 20200609 RGD DNA:SNP: :rs885822 (human) PMID:21157294|REF_RGD_ID:6482819 12307305 PRF1 perforin 1 gene DOID:630 genetic disease ISO RGD:1350272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10583959|PMID:11179007|PMID:11565555|PMID:11756153|PMID:12060139|PMID:12229880|PMID:14757862|PMID:15365097|PMID:15728124|PMID:15755897|PMID:16278825|PMID:16374518|PMID:17164654|PMID:17674359|PMID:17873118|PMID:19487666|PMID:20197201|PMID:21234777|PMID:21881043|PMID:21959744|PMID:23073290|PMID:23443029|PMID:23592409|PMID:24916509|PMID:25741868|PMID:25845254|PMID:25937001|PMID:26184781|PMID:26221353|PMID:26684649|PMID:27271812|PMID:27577878|PMID:28492532|PMID:29263817|PMID:29357941|PMID:32638196|PMID:34938098 12307305 PRF1 perforin 1 gene DOID:820 myocarditis ISO RGD:1553597 D RGD:9068941 20200609 RGD PMID:21993400|REF_RGD_ID:6482790 12307305 PRF1 perforin 1 gene DOID:8544 chronic fatigue syndrome ISO RGD:1350272 D RGD:9068941 20200609 RGD PMID:21619669|REF_RGD_ID:6482801 12307305 PRF1 perforin 1 gene DOID:8729 milker's nodule ISO RGD:1553597 D RGD:9068941 20200609 RGD PMID:22396645|REF_RGD_ID:6482788 12307305 PRF1 perforin 1 gene DOID:8778 Crohn's disease ISO RGD:1350272 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:22021194|REF_RGD_ID:6482789 12307305 PRF1 perforin 1 gene DOID:9000998 Brain Injuries ISO RGD:1350272 D RGD:9068941 20200609 RGD PMID:20537642|REF_RGD_ID:6482807 12307305 PRF1 perforin 1 gene DOID:9001488 Human Influenza ISO RGD:1350272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26597256 12307305 PRF1 perforin 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1553597 D RGD:9068941 20200609 RGD PMID:20708278|REF_RGD_ID:6482806 12307305 PRF1 perforin 1 gene DOID:9002798 Macrophage Activation Syndrome ISO RGD:1350272 D RGD:9068941 20200609 RGD associated with Arthritis, Juvenile Rheumatoid;DNA:missense mutation:cds:p.A91V (human) PMID:20019066|REF_RGD_ID:6482811 12307305 PRF1 perforin 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1553597 D RGD:9068941 20200609 RGD associated with Colitis PMID:19785028|REF_RGD_ID:6482812 12307305 PRF1 perforin 1 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1350272 D RGD:9068941 20201112 RGD protein:increased expression:peripheral blood mononuclear cell (human) PMID:25148254|REF_RGD_ID:40813739 12307305 PRF1 perforin 1 gene DOID:9004146 Flavivirus Infections ISO RGD:1553597 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, spleen PMID:21908734|REF_RGD_ID:6482795 12307305 PRF1 perforin 1 gene DOID:9004404 Familial Hemophagocytic Lymphohistiocytoses ISO RGD:1350272 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis PMID:10583959|PMID:11179007|PMID:1156555|PMID:11565555|PMID:11756153|PMID:12060139|PMID:12716377|PMID:14576041|PMID:14757862|PMID:15205266|PMID:15365097|PMID:15632205|PMID:15755897|PMID:16278825|PMID:16374518|PMID:16443553|PMID:16860143|PMID:17164654|PMID:17266056|PMID:17525286|PMID:17674359|PMID:17873118|PMID:18190960|PMID:18710388|PMID:19487666|PMID:19595804|PMID:19639728|PMID:21234777|PMID:21881043|PMID:21959744|PMID:22186995|PMID:22437823|PMID:23073290|PMID:23255033|PMID:23264592|PMID:23443029|PMID:23592409|PMID:24033266|PMID:24390453|PMID:24744671|PMID:24916509|PMID:25577959|PMID:25741868|PMID:26184781|PMID:26199792|PMID:26684649|PMID:27209435|PMID:27271812|PMID:27577878|PMID:27622035|PMID:28492532|PMID:28757574|PMID:29095814|PMID:29152263|PMID:29239076|PMID:29357941|PMID:29665027|PMID:30849948|PMID:31388699|PMID:31395954|PMID:31789783|PMID:32375849|PMID:32638196|PMID:33365035|PMID:33658321|PMID:33746956 12307305 PRF1 perforin 1 gene DOID:9008288 Visceral Heterotaxy 5, Autosomal ISO RGD:1350272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal PMID:28492532 12307305 PRF1 perforin 1 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1350272 D RGD:9068941 20200609 RGD PMID:21906646|REF_RGD_ID:6482798 12307305 PRF1 perforin 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1553597 D RGD:9068941 20220825 MouseDO OMIM:222100 12307317 THY1 Thy-1 cell surface antigen gene DOID:0060017 CD3epsilon deficiency ISO RGD:735861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12307317 THY1 Thy-1 cell surface antigen gene DOID:0060837 isolated microphthalmia 5 ISO RGD:735861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12307317 THY1 Thy-1 cell surface antigen gene DOID:0080690 RASopathy ISO RGD:735861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12307317 THY1 Thy-1 cell surface antigen gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:735861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12307317 THY1 Thy-1 cell surface antigen gene DOID:0111971 immunodeficiency 18 ISO RGD:735861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12307317 THY1 Thy-1 cell surface antigen gene DOID:0111972 immunodeficiency 19 ISO RGD:735861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12307317 THY1 Thy-1 cell surface antigen gene DOID:0111973 immunodeficiency 17 ISO RGD:735861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12307317 THY1 Thy-1 cell surface antigen gene DOID:12510 retinal ischemia treatment ISO RGD:3860 D RGD:9068941 20200609 RGD PMID:23537149|REF_RGD_ID:10755711 12307317 THY1 Thy-1 cell surface antigen gene DOID:5419 schizophrenia ISO RGD:735861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12307317 THY1 Thy-1 cell surface antigen gene DOID:5679 retinal disease ISO RGD:3860 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:18836575|REF_RGD_ID:5490154 12307317 THY1 Thy-1 cell surface antigen gene DOID:5679 retinal disease ISO RGD:735861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 12307317 THY1 Thy-1 cell surface antigen gene DOID:630 genetic disease ISO RGD:735861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307317 THY1 Thy-1 cell surface antigen gene DOID:684 hepatocellular carcinoma ISO RGD:735861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12307317 THY1 Thy-1 cell surface antigen gene DOID:9004009 Reperfusion Injury ISO RGD:735861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 12307317 THY1 Thy-1 cell surface antigen gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:735861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12307317 THY1 Thy-1 cell surface antigen gene DOID:9007661 Dwarfism ISO RGD:735861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12307325 CHST7 carbohydrate sulfotransferase 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12307325 CHST7 carbohydrate sulfotransferase 7 gene DOID:12849 autistic disorder ISO RGD:1344494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12307325 CHST7 carbohydrate sulfotransferase 7 gene DOID:630 genetic disease ISO RGD:1344494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307325 CHST7 carbohydrate sulfotransferase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12307325 CHST7 carbohydrate sulfotransferase 7 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1344494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 12307336 RBM3 RNA binding motif protein 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12307336 RBM3 RNA binding motif protein 3 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1350280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12307336 RBM3 RNA binding motif protein 3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1350280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12307336 RBM3 RNA binding motif protein 3 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1350280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12307336 RBM3 RNA binding motif protein 3 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1350280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12307336 RBM3 RNA binding motif protein 3 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1350280 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12307336 RBM3 RNA binding motif protein 3 gene DOID:12849 autistic disorder ISO RGD:1350280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12307336 RBM3 RNA binding motif protein 3 gene DOID:630 genetic disease ISO RGD:1350280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307336 RBM3 RNA binding motif protein 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12307336 RBM3 RNA binding motif protein 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1350280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19734850 12307352 ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0080600 COVID-19 ISO RGD:1604512 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12307352 ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0110658 congenital myasthenic syndrome 15 ISO RGD:1604512 D RGD:7240710 20180130 OMIM 12307352 ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0110658 congenital myasthenic syndrome 15 ISO RGD:1604512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 15 PMID:16199547|PMID:17576681|PMID:23404334|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28733338|PMID:33751823|PMID:9536098 12307352 ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:1604512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12307352 ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:630 genetic disease ISO RGD:1604512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:28733338|PMID:9536098 12307352 ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9003980 Myopathy, Epilepsy, and Progressive Cerebral Atrophy ISO RGD:1604512 D RGD:7240710 20201021 OMIM 12307352 ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9003980 Myopathy, Epilepsy, and Progressive Cerebral Atrophy ISO RGD:1604512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, epilepsy, and progressive cerebral atrophy PMID:25741868|PMID:26467025|PMID:28492532|PMID:28733338|PMID:33751823 12307375 RHOJ ras homolog family member J gene DOID:0050700 cardiomyopathy ISO RGD:1321483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21037199 12307375 RHOJ ras homolog family member J gene DOID:630 genetic disease ISO RGD:1321483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307375 RHOJ ras homolog family member J gene DOID:9002928 Colonic Neoplasms ISO RGD:1321483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12307395 PTCHD4 patched domain containing 4 gene DOID:630 genetic disease ISO RGD:1606357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307438 TGFA transforming growth factor alpha gene DOID:0050563 nonsyndromic deafness ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27356075 12307438 TGFA transforming growth factor alpha gene DOID:0080178 mucositis ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18803016 12307438 TGFA transforming growth factor alpha gene DOID:11396 pulmonary edema ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11919079 12307438 TGFA transforming growth factor alpha gene DOID:1793 pancreatic cancer ISO RGD:3849 D RGD:9068941 20200609 RGD PMID:17785207|REF_RGD_ID:2317468 12307438 TGFA transforming growth factor alpha gene DOID:1793 pancreatic cancer ISO RGD:736273 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:1401070|REF_RGD_ID:2317473 12307438 TGFA transforming growth factor alpha gene DOID:2326 gastroenteritis ISO RGD:736273 D RGD:9068941 20200609 RGD PMID:18956197|REF_RGD_ID:2317483 12307438 TGFA transforming growth factor alpha gene DOID:2615 papilloma ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8603490 12307438 TGFA transforming growth factor alpha gene DOID:3021 acute kidney failure ISO RGD:3849 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:11340354|REF_RGD_ID:10395241 12307438 TGFA transforming growth factor alpha gene DOID:3770 pulmonary fibrosis ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18424623 12307438 TGFA transforming growth factor alpha gene DOID:3892 insulinoma ISO RGD:736273 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:8712689|REF_RGD_ID:2317472 12307438 TGFA transforming growth factor alpha gene DOID:3908 lung non-small cell carcinoma ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16230376 12307438 TGFA transforming growth factor alpha gene DOID:4948 gallbladder carcinoma ISO RGD:736273 D RGD:9068941 20200609 RGD PMID:9542514|REF_RGD_ID:2317470 12307438 TGFA transforming growth factor alpha gene DOID:630 genetic disease ISO RGD:736273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307438 TGFA transforming growth factor alpha gene DOID:6432 pulmonary hypertension ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18424623 12307438 TGFA transforming growth factor alpha gene DOID:684 hepatocellular carcinoma ISO RGD:3849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:9060843|REF_RGD_ID:2317471 12307438 TGFA transforming growth factor alpha gene DOID:684 hepatocellular carcinoma ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15565109|PMID:9029167 12307438 TGFA transforming growth factor alpha gene DOID:687 hepatoblastoma ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11560253 12307438 TGFA transforming growth factor alpha gene DOID:8893 psoriasis ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7519033 12307438 TGFA transforming growth factor alpha gene DOID:9000217 Stomach Neoplasms ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15723263 12307438 TGFA transforming growth factor alpha gene DOID:9000310 Lung Injury ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11919079 12307438 TGFA transforming growth factor alpha gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14514962 12307438 TGFA transforming growth factor alpha gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8603490 12307438 TGFA transforming growth factor alpha gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:3849 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:16734725|REF_RGD_ID:2317490 12307438 TGFA transforming growth factor alpha gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9079223 12307438 TGFA transforming growth factor alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17136230 12307438 TGFA transforming growth factor alpha gene DOID:9002331 Knee Osteoarthritis ISO RGD:3849 D RGD:9068941 20200609 RGD protein:increased expression:cartilage PMID:17968906|REF_RGD_ID:2317486 12307438 TGFA transforming growth factor alpha gene DOID:9002331 Knee Osteoarthritis ISO RGD:736273 D RGD:9068941 20200609 RGD mRNA:increased expression:cartilage PMID:17968906|REF_RGD_ID:2317486 12307438 TGFA transforming growth factor alpha gene DOID:9002955 Nerve Degeneration ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9263032 12307438 TGFA transforming growth factor alpha gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8603490 12307438 TGFA transforming growth factor alpha gene DOID:9005372 Inflammation ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11919079 12307438 TGFA transforming growth factor alpha gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18424623 12307438 TGFA transforming growth factor alpha gene DOID:9006169 Head and Neck Neoplasms ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342401 12307438 TGFA transforming growth factor alpha gene DOID:9007096 Stroke ISO RGD:3849 D RGD:9068941 20200609 RGD PMID:19248822|REF_RGD_ID:2317476 12307438 TGFA transforming growth factor alpha gene DOID:9007188 Liver Neoplasms ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8807143 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0050827 rheumatic heart disease ISO RGD:61817 D RGD:9068941 20230202 RGD mRNA, protein:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0070303 multiple epiphyseal dysplasia 1 ISO RGD:734049 D RGD:8554872 20220705 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1 PMID:25741868 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0080006 bone development disease ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868|PMID:8364588 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0080010 bone structure disease ISO RGD:734049 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormal bone structure | ClinVar Annotator: match by term: Abnormality of bone mineral density PMID:25741868 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0080162 lupus nephritis ISO RGD:62109 D RGD:9068941 20200609 RGD associated with Graft vs Host Disease PMID:7700025|REF_RGD_ID:5688333 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0080162 lupus nephritis ISO RGD:62109 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney cortex PMID:7723234|REF_RGD_ID:5688332 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0080162 lupus nephritis ISO RGD:734049 D RGD:9068941 20200609 RGD PMID:21354048|REF_RGD_ID:5688301 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:17241878|REF_RGD_ID:2308807 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:62109 D RGD:9068941 20200609 RGD PMID:23703580|REF_RGD_ID:8552713 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0080547 non-alcoholic steatohepatitis ameliorates ISO RGD:62109 D RGD:9068941 20210702 RGD PMID:28100771|REF_RGD_ID:127285675 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:734049 D RGD:7240710 20180130 OMIM 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrochalasis multiplex congenita | ClinVar Annotator: match by term: EDS VII, MUTANT PROCOLLAGEN TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17211858|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23587214|PMID:23692737|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:27011056|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:28102596|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29695797|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31447884|PMID:31584903|PMID:32166892|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0080728 Ehlers-Danlos syndrome arthrochalasia type 2 ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2 PMID:18311573|PMID:21667357|PMID:22206639|PMID:25741868|PMID:25944380|PMID:26627451|PMID:28492532|PMID:32581362|PMID:7942841|PMID:9295084|PMID:9443882 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:734049 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16786509|PMID:16879195|PMID:17078022|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18409203|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19550437|PMID:2037280|PMID:20696291|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22589248|PMID:24147872|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26633542|PMID:27044453|PMID:27060301|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27549894|PMID:2767050|PMID:27748872|PMID:28378289|PMID:28492532|PMID:28810924|PMID:29499418|PMID:29543232|PMID:29946973|PMID:30692697|PMID:30715774|PMID:3082886|PMID:31304589|PMID:32166892|PMID:32235935|PMID:33228694|PMID:33928192|PMID:33939306|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:734049 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, cardiac valvular type PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18409203|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19550437|PMID:2037280|PMID:20696291|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22589248|PMID:22855962|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26633542|PMID:27011056|PMID:27044453|PMID:27060301|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:28378289|PMID:28492532|PMID:28810924|PMID:29499418|PMID:29543232|PMID:29695797|PMID:29946973|PMID:30692697|PMID:30715774|PMID:3082886|PMID:31304589|PMID:31584903|PMID:32166892|PMID:32235935|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:734049 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18409203|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23587214|PMID:23692737|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:27011056|PMID:27044453|PMID:27060301|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29695797|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:3082886|PMID:31304589|PMID:31447884|PMID:31584903|PMID:32166892|PMID:32235935|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17211858|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18409203|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23587214|PMID:23692737|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:27011056|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:28102596|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29695797|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:3082886|PMID:31304589|PMID:31447884|PMID:31584903|PMID:32166892|PMID:32235935|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0081333 Wiedemann-Rautenstrauch syndrome ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome PMID:16786509|PMID:28492532|PMID:29101475|PMID:30450527 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D PMID:25106685|PMID:28492532 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:7240710 20181017 OMIM 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12590186|PMID:1445258|PMID:15024692|PMID:15024745|PMID:15235039|PMID:15241796|PMID:15728585|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16638323|PMID:16705691|PMID:16786509|PMID:16879195|PMID:17078022|PMID:17206620|PMID:17211858|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2035536|PMID:2037280|PMID:20696291|PMID:21239989|PMID:21249479|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:2295701|PMID:23054245|PMID:23079818|PMID:23265383|PMID:23529829|PMID:23587214|PMID:23692737|PMID:24088041|PMID:24147872|PMID:24273577|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:24891183|PMID:25086671|PMID:25146735|PMID:25324685|PMID:2542316|PMID:25436829|PMID:25525159|PMID:25597651|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25944380|PMID:25963598|PMID:25983617|PMID:26138843|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26467025|PMID:26604951|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27090748|PMID:27132807|PMID:27146342|PMID:27335225|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28116328|PMID:28166811|PMID:28173822|PMID:28326186|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29543232|PMID:29669177|PMID:29807018|PMID:29946973|PMID:3016737|PMID:30266093|PMID:30614853|PMID:30675999|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31236376|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31447884|PMID:31737030|PMID:31994750|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32860008|PMID:33939306|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:6462220|PMID:7487936|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8349697|PMID:8408653|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8757037|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12590186|PMID:1445258|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16638323|PMID:16705691|PMID:16786509|PMID:16879195|PMID:17078022|PMID:17206620|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2037280|PMID:20696291|PMID:21239989|PMID:21249479|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:2295701|PMID:23079818|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23692737|PMID:24088041|PMID:24147872|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28116328|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29543232|PMID:29807018|PMID:29946973|PMID:30266093|PMID:30614853|PMID:30675999|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31236376|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31447884|PMID:31994750|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32860008|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8757037|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12590186|PMID:1445258|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16638323|PMID:16705691|PMID:16786509|PMID:16879195|PMID:17078022|PMID:17206620|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2037280|PMID:20696291|PMID:21239989|PMID:21249479|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:2295701|PMID:23079818|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23692737|PMID:24088041|PMID:24147872|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28116328|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29543232|PMID:29807018|PMID:29946973|PMID:30266093|PMID:30614853|PMID:30675999|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31236376|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31447884|PMID:31994750|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32627857|PMID:32860008|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8757037|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12362985|PMID:12590186|PMID:1445258|PMID:15024692|PMID:15024745|PMID:15106082|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16474405|PMID:16638323|PMID:16705691|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17206620|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21239989|PMID:21249479|PMID:21344539|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:2295701|PMID:23079818|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:24088041|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:24891183|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28116328|PMID:28173822|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:28991257|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29669177|PMID:29695797|PMID:29807018|PMID:29946973|PMID:30266093|PMID:30614853|PMID:30675999|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31236376|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31447884|PMID:31584903|PMID:31994750|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32627857|PMID:32860008|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:34422331|PMID:34426522|PMID:35918752|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8757037|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12362985|PMID:12590186|PMID:1445258|PMID:15024692|PMID:15024745|PMID:15106082|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16474405|PMID:16638323|PMID:16705691|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17206620|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21239989|PMID:21249479|PMID:21344539|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:2295701|PMID:23079818|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:24088041|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:24891183|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25742658|PMID:25944380|PMID:25963598|PMID:25983617|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28116328|PMID:28173822|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:28991257|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29669177|PMID:29695797|PMID:29807018|PMID:29946973|PMID:30266093|PMID:30614853|PMID:30675999|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31218168|PMID:31236376|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31584903|PMID:31680973|PMID:31994750|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32627857|PMID:32667677|PMID:32860008|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:34422331|PMID:34426522|PMID:35918752|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8757037|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12362985|PMID:12590186|PMID:1445258|PMID:1460046|PMID:15024692|PMID:15024745|PMID:15046069|PMID:15106082|PMID:15235039|PMID:15241796|PMID:15502558|PMID:15728585|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16474405|PMID:16638323|PMID:16705691|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:1718984|PMID:17206620|PMID:17211858|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:1895312|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2035536|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21239989|PMID:21249479|PMID:21344539|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21834035|PMID:21884818|PMID:22206639|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:2295701|PMID:23054245|PMID:23079818|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:23929220|PMID:24088041|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24273577|PMID:24311407|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:24891183|PMID:25086671|PMID:25146735|PMID:25324685|PMID:2542316|PMID:25436829|PMID:25525159|PMID:25597651|PMID:25633413|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25742658|PMID:25944380|PMID:25963598|PMID:25983617|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26371943|PMID:26402641|PMID:26467025|PMID:26604951|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:26799614|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27335225|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27577215|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28116328|PMID:28173822|PMID:28326186|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:28817112|PMID:28991257|PMID:29101475|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29502568|PMID:29543232|PMID:29552444|PMID:29595812|PMID:29669177|PMID:29695797|PMID:29807018|PMID:29946973|PMID:3016737|PMID:30266093|PMID:30450527|PMID:30614853|PMID:30675999|PMID:30684648|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31218168|PMID:31236376|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31584903|PMID:31680973|PMID:31737030|PMID:31994750|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32627857|PMID:32667677|PMID:32860008|PMID:33070251|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:34422331|PMID:34426522|PMID:35918752|PMID:6462220|PMID:7487936|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456806|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8757037|PMID:8799376|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9143923|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12362985|PMID:12590186|PMID:1445258|PMID:1460046|PMID:15024692|PMID:15024745|PMID:15046069|PMID:15106082|PMID:15235039|PMID:15241796|PMID:15502558|PMID:15728585|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16474405|PMID:16638323|PMID:16705691|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:1718984|PMID:17206620|PMID:17211858|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:1895312|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2035536|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21239989|PMID:21249479|PMID:21344539|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21834035|PMID:21884818|PMID:22206639|PMID:2238087|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:2295701|PMID:23054245|PMID:23079818|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:23929220|PMID:23949819|PMID:24088041|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24273577|PMID:24311407|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:24891183|PMID:25086671|PMID:25146735|PMID:25324685|PMID:2542316|PMID:25436829|PMID:25525159|PMID:25597651|PMID:25633413|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25742658|PMID:25944380|PMID:25963598|PMID:25983617|PMID:26138843|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26371943|PMID:26402641|PMID:26467025|PMID:26478226|PMID:26604951|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:26799614|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27335225|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27577215|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28116328|PMID:28173822|PMID:28326186|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:28817112|PMID:28991257|PMID:29101475|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29502568|PMID:29543232|PMID:29552444|PMID:29595812|PMID:29669177|PMID:29695797|PMID:29807018|PMID:29946973|PMID:30131598|PMID:3016737|PMID:30266093|PMID:30450527|PMID:30614853|PMID:30675999|PMID:30684648|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31218168|PMID:31236376|PMID:31299979|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31584903|PMID:31680973|PMID:31737030|PMID:31994750|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32627857|PMID:32667677|PMID:32860008|PMID:32981126|PMID:33070251|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34007986|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:34422331|PMID:34426522|PMID:35918752|PMID:6462220|PMID:7487936|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456806|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8757037|PMID:8799376|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9143923|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0110339 osteogenesis imperfecta type 3 IAGP D RGD:12801476 20210728 OMIA Osteogenesis imperfecta, type III, COL1A1-related PMID:9227748|PMID:11147834 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:734049 D RGD:7240710 20180130 OMIM 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:734049 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: OI type III | ClinVar Annotator: match by term: Osteogenesis imperfecta type III | ClinVar Annotator: match by term: Osteogenesis imperfecta, type III/IV PMID:10408781|PMID:10739762|PMID:10931857|PMID:11113887|PMID:11286507|PMID:11317364|PMID:12362985|PMID:12590186|PMID:1445258|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16705691|PMID:17078022|PMID:17211858|PMID:17309652|PMID:17392686|PMID:17576681|PMID:1770532|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18798308|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19637253|PMID:2037280|PMID:20981092|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21834035|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25086671|PMID:2511192|PMID:2542316|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26467025|PMID:26627451|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29150909|PMID:29499418|PMID:29595812|PMID:29807018|PMID:30131598|PMID:30614853|PMID:30675999|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31447884|PMID:32166892|PMID:32627857|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34007986|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7942841|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8723681|PMID:8786074|PMID:8808594|PMID:8910493|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0110340 osteogenesis imperfecta type 4 ISO RGD:734049 D RGD:7240710 20180130 OMIM 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0110340 osteogenesis imperfecta type 4 ISO RGD:734049 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: OI type IV | ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV | ClinVar Annotator: match by term: Osteogenesis imperfecta type 4 PMID:10417276|PMID:10739762|PMID:10931857|PMID:11113887|PMID:11317364|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15106082|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:17078022|PMID:1718984|PMID:17211858|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:2037280|PMID:20981092|PMID:21249479|PMID:21488280|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23587214|PMID:23692737|PMID:24390061|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26467025|PMID:26627451|PMID:27044453|PMID:27132807|PMID:27146342|PMID:2745420|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28725987|PMID:28810924|PMID:29150909|PMID:29499418|PMID:29595812|PMID:30614853|PMID:30692697|PMID:30715774|PMID:30886339|PMID:31304589|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31680973|PMID:31737030|PMID:32166892|PMID:33228694|PMID:33928192|PMID:33939306|PMID:7695699|PMID:7942841|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8786074|PMID:8808594|PMID:9007315|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0110341 osteogenesis imperfecta type 2 ISO RGD:734049 D RGD:7240710 20180130 OMIM 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:0110341 osteogenesis imperfecta type 2 ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2, thin-bone | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2A | ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta PMID:10739762|PMID:10931857|PMID:11113887|PMID:11317364|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:1511982|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:1613761|PMID:16199547|PMID:17078022|PMID:17211858|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:1864604|PMID:18704262|PMID:1874719|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:20301472|PMID:2035536|PMID:2037280|PMID:20981092|PMID:2121988|PMID:21239989|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21834035|PMID:22206639|PMID:2220807|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:2298750|PMID:2309707|PMID:23265383|PMID:2339700|PMID:23587214|PMID:23692737|PMID:24390061|PMID:24767406|PMID:2500431|PMID:25086671|PMID:2542316|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26264579|PMID:26467025|PMID:26627451|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28116328|PMID:28378289|PMID:28492532|PMID:28528406|PMID:28725987|PMID:28810924|PMID:2894346|PMID:2913053|PMID:29432813|PMID:29499418|PMID:29595812|PMID:3016737|PMID:30266093|PMID:30311386|PMID:30614853|PMID:30692697|PMID:30715774|PMID:3108247|PMID:31304589|PMID:31349857|PMID:31447884|PMID:3198624|PMID:32166892|PMID:32860008|PMID:33228694|PMID:33928192|PMID:33939306|PMID:3403550|PMID:3667599|PMID:3722184|PMID:6702894|PMID:7695699|PMID:7816518|PMID:7881420|PMID:7942841|PMID:8097422|PMID:8100209|PMID:8100856|PMID:8218237|PMID:8364588|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:8950680|PMID:9016532|PMID:9067755|PMID:9143923|PMID:9295084|PMID:9443882|PMID:9536098 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:10283 prostate cancer ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Prostate cancer PMID:17211858|PMID:23265383|PMID:25741868|PMID:28492532 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:1067 open-angle glaucoma ISO RGD:62109 D RGD:9068941 20200609 RGD PMID:15161848|REF_RGD_ID:8552673 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:10763 hypertension ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11682445 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:11088 asphyxia neonatorum ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxia neonatorum PMID:25741868|PMID:8364588 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:11476 osteoporosis ISO RGD:734049 D RGD:7240710 20180130 OMIM 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:11476 osteoporosis ISO RGD:734049 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL PMID:10931857|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:17078022|PMID:17309652|PMID:18412368|PMID:18553566|PMID:18704262|PMID:19344236|PMID:2037280|PMID:21249479|PMID:21567126|PMID:21667357|PMID:22589248|PMID:22855962|PMID:24390061|PMID:25086671|PMID:2542316|PMID:25741868|PMID:25944380|PMID:26177859|PMID:26467025|PMID:27132807|PMID:27509835|PMID:27519266|PMID:27748872|PMID:28378289|PMID:28492532|PMID:28810924|PMID:32166892|PMID:33228694|PMID:33928192|PMID:33939306|PMID:7695699|PMID:7942841|PMID:8218237|PMID:8408653|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:11476 osteoporosis ISO RGD:734049 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis PMID:10739762|PMID:10931857|PMID:11113887|PMID:11317364|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:17078022|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:2037280|PMID:20981092|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23587214|PMID:23692737|PMID:24390061|PMID:24767406|PMID:25086671|PMID:2542316|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26467025|PMID:26627451|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27519266|PMID:27748872|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29499418|PMID:29595812|PMID:30614853|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31447884|PMID:32166892|PMID:33228694|PMID:33928192|PMID:33939306|PMID:7695699|PMID:7942841|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:11476 osteoporosis ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis PMID:10739762|PMID:10931857|PMID:11113887|PMID:11317364|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:17078022|PMID:17211858|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:2037280|PMID:20981092|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23587214|PMID:23692737|PMID:24390061|PMID:24767406|PMID:25086671|PMID:2542316|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26467025|PMID:26627451|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28102596|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29499418|PMID:29595812|PMID:30614853|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31447884|PMID:32166892|PMID:33228694|PMID:33928192|PMID:33939306|PMID:7695699|PMID:7942841|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:11476 osteoporosis susceptibility ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron:g.2046G>T (human) PMID:23137636|REF_RGD_ID:10045665 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:11664 nephrosclerosis ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:11830 myopia ISO RGD:62109 D RGD:9068941 20200609 RGD mRNA:decreased expression:sclera (mouse) PMID:22690110|REF_RGD_ID:8552656 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:1184 nephrotic syndrome ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1281619 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:12185 otosclerosis susceptibility ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:snps, haplotypes:multiple (human) PMID:17489845|REF_RGD_ID:8552658 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:12236 primary biliary cholangitis treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:20056896|REF_RGD_ID:8552731 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:12241 beta thalassemia ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:SNP PMID:12803121|REF_RGD_ID:11041179 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brittle bone disease | ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:1137656|PMID:11432962|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16705691|PMID:16786509|PMID:16879195|PMID:17078022|PMID:17211858|PMID:17309652|PMID:17392686|PMID:18028452|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19550437|PMID:19751715|PMID:2037280|PMID:20696291|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22589248|PMID:22753364|PMID:23443412|PMID:23587214|PMID:24147872|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26712438|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:28102596|PMID:28116328|PMID:28166811|PMID:28378289|PMID:28492532|PMID:28810924|PMID:29150909|PMID:29499418|PMID:29543232|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31319225|PMID:31363794|PMID:31414283|PMID:32166892|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34091789|PMID:34249109|PMID:3722186|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:1137656|PMID:11432962|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16786509|PMID:16879195|PMID:17078022|PMID:17309652|PMID:17392686|PMID:18028452|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19550437|PMID:19751715|PMID:2037280|PMID:20696291|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22589248|PMID:22753364|PMID:23443412|PMID:24147872|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26712438|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:28116328|PMID:28378289|PMID:28492532|PMID:28810924|PMID:29150909|PMID:29499418|PMID:29543232|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31319225|PMID:31363794|PMID:32166892|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34091789|PMID:34249109|PMID:3722186|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:1137656|PMID:11432962|PMID:11704682|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15106082|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16705691|PMID:16786509|PMID:16879195|PMID:17078022|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19550437|PMID:19751715|PMID:20301472|PMID:2037280|PMID:20696291|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23443412|PMID:23692737|PMID:24147872|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26712438|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27132807|PMID:27146342|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:28116328|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29150909|PMID:29499418|PMID:29543232|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:30886339|PMID:31304589|PMID:31319225|PMID:31363794|PMID:32166892|PMID:32235935|PMID:32581362|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34091789|PMID:34249109|PMID:3722186|PMID:7691343|PMID:7695699|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:1137656|PMID:11432962|PMID:11704682|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15106082|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16705691|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:1718984|PMID:17206620|PMID:17211858|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19751715|PMID:20301472|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21249479|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25742658|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26712438|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27132807|PMID:27146342|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:28102596|PMID:28116328|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28725987|PMID:28748566|PMID:28810924|PMID:28817112|PMID:28991257|PMID:29150909|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29695797|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:30886339|PMID:31304589|PMID:31319225|PMID:31363794|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31584903|PMID:31680973|PMID:31737030|PMID:32166892|PMID:32235935|PMID:32581362|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34091789|PMID:34249109|PMID:34422331|PMID:34426522|PMID:35918752|PMID:3722186|PMID:7691343|PMID:7695699|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:1137656|PMID:11432962|PMID:11704682|PMID:11826020|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15106082|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16705691|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:1718984|PMID:17206620|PMID:17211858|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19751715|PMID:20301472|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21249479|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:2238087|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25742658|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26712438|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:28102596|PMID:28116328|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28725987|PMID:28748566|PMID:28810924|PMID:28817112|PMID:28991257|PMID:29150909|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29695797|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:30886339|PMID:31299979|PMID:31304589|PMID:31319225|PMID:31363794|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31584903|PMID:31680973|PMID:31737030|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32981126|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34091789|PMID:34249109|PMID:34422331|PMID:34426522|PMID:35918752|PMID:3722186|PMID:7691343|PMID:7695699|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8799376|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta severity ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:mutation:exon:c.3235G>A(p.G1079S)(human) PMID:23079818|REF_RGD_ID:11571620 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:12351 alcoholic hepatitis ISO RGD:734049 D RGD:9068941 20200609 RGD PMID:1670041|REF_RGD_ID:5688335 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:734049 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:10739762|PMID:11090261|PMID:11317364|PMID:11432962|PMID:15741671|PMID:16474405|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17211858|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18996919|PMID:19344236|PMID:19550437|PMID:19751715|PMID:20696291|PMID:21594610|PMID:21667357|PMID:21884818|PMID:2238087|PMID:22753364|PMID:23265383|PMID:23587214|PMID:24147872|PMID:24668929|PMID:25146735|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26633542|PMID:27011056|PMID:27380894|PMID:27510842|PMID:27519266|PMID:28102596|PMID:28492532|PMID:28748566|PMID:29543232|PMID:29946973|PMID:30715774|PMID:30886339|PMID:31299979|PMID:31584903|PMID:32166892|PMID:32981126|PMID:33939306|PMID:34422331|PMID:34426522|PMID:7691343|PMID:7695699|PMID:8079666|PMID:8218237|PMID:8456808|PMID:8799376|PMID:9016532|PMID:9536098 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:13580 cholestasis ISO RGD:61817 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:22824087|REF_RGD_ID:8552776 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:13580 cholestasis ISO RGD:62109 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (mouse) PMID:22094456|REF_RGD_ID:8552675 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:13580 cholestasis treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:21274875|REF_RGD_ID:8552699 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:13619 extrahepatic cholestasis ISO RGD:734049 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:28789951|PMID:31932644 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:13948 bladder neck obstruction treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:23313213|REF_RGD_ID:7257549 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16786509|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29543232 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:734049 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16786509|PMID:25741868|PMID:28492532|PMID:29543232|PMID:31584903 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:10739762|PMID:17211858|PMID:23587214|PMID:25597651|PMID:25741868|PMID:28102596|PMID:28492532 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:734049 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:10739762|PMID:25741868|PMID:28492532 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:1474 aggressive periodontitis ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:SNP PMID:15081423|REF_RGD_ID:5688299 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:1682 congenital heart disease ISO RGD:734049 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital heart disease PMID:28492532 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:182 calcinosis ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:2213 hemorrhagic disease ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:2377 multiple sclerosis ISO RGD:734049 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:20456365|REF_RGD_ID:5688302 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:734049 D RGD:9068941 20200609 RGD PMID:15469929|REF_RGD_ID:5131854 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:3507 dermatofibrosarcoma protuberans ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:gene fusion:exon PMID:12641779|REF_RGD_ID:2292195 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:3507 dermatofibrosarcoma protuberans ISO RGD:734049 D RGD:9068941 20200609 RGD associated with Severe combined immunodeficiency due to adenosine deaminase deficiency;DNA:gene fusion PMID:22153773|REF_RGD_ID:5688300 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:3770 pulmonary fibrosis ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:7511187|REF_RGD_ID:7257543 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:3770 pulmonary fibrosis ISO RGD:62109 D RGD:9068941 20200619 RGD associated with Middle East respiratory syndrome; PMID:31838832|REF_RGD_ID:30309204 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:3770 pulmonary fibrosis treatment ISO RGD:62109 D RGD:9068941 20200609 RGD PMID:17579094|REF_RGD_ID:11041177 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:4079 heart valve disease ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:4154 dentinogenesis imperfecta ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dentinogenesis imperfecta PMID:17078022|PMID:19344236|PMID:24668929|PMID:25741868|PMID:25944380|PMID:27509835|PMID:28492532|PMID:29807018|PMID:7691343|PMID:7695699|PMID:8218237|PMID:9016532 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:417 autoimmune disease ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:418 systemic scleroderma ISO RGD:734049 D RGD:9068941 20200609 RGD PMID:1697606|REF_RGD_ID:5688336 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:4257 Caffey disease ISO RGD:734049 D RGD:7240710 20180130 OMIM 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:4257 Caffey disease ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Caffey Disease | ClinVar Annotator: match by term: Infantile cortical hyperostosis PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17211858|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23443412|PMID:23587214|PMID:23692737|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26712438|PMID:27011056|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28116328|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29695797|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31447884|PMID:31584903|PMID:32166892|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:5082 liver cirrhosis ISO RGD:734049 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:21863215|PMID:24239723|PMID:24321339|PMID:26396155|PMID:32659284 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:5199 ureteral obstruction ISO RGD:61817 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:20660018|REF_RGD_ID:5688341 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:57 aortic valve insufficiency ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:5773 oral submucous fibrosis ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:5844 myocardial infarction treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:25636075|REF_RGD_ID:11041598 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:630 genetic disease ISO RGD:734049 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:6432 pulmonary hypertension treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:25867313|REF_RGD_ID:11041577 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:65 connective tissue disease ISO RGD:734049 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:15741671|PMID:16474405|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:18028452|PMID:18272325|PMID:19550437|PMID:20696291|PMID:21594610|PMID:25146735|PMID:25525159|PMID:25741868|PMID:25963598|PMID:26188975|PMID:26235824|PMID:26467025|PMID:27380894|PMID:28492532|PMID:28748566|PMID:29543232|PMID:29946973|PMID:31584903|PMID:8079666|PMID:8456808 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:783 end stage renal disease ISO RGD:734049 D RGD:9068941 20200609 RGD PMID:25782334|REF_RGD_ID:11041185 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:820 myocarditis treatment ISO RGD:62109 D RGD:9068941 20200609 RGD PMID:19246678|REF_RGD_ID:7241803 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:8398 osteoarthritis no_association ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS1 PMID:10743824|REF_RGD_ID:5688331 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:8577 ulcerative colitis ISO RGD:734049 D RGD:9068941 20200609 RGD PMID:17939044|REF_RGD_ID:5688304 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:90 degenerative disc disease ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:SNP: :rs2075555 (human) PMID:19180518|REF_RGD_ID:5688293 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9000058 Keloid ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9000585 Intervertebral Disc Disease ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15994869|REF_RGD_ID:5688297 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9000585 Intervertebral Disc Disease no_association ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:insertion PMID:18694864|REF_RGD_ID:5688295 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9000784 Fibrosis ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388698 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:20818932|REF_RGD_ID:5688339 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:61817 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (rat) PMID:23958495|REF_RGD_ID:8552710 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:61817 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:16009107|REF_RGD_ID:1601595 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136|PMID:26435214|PMID:26739621 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:61817 D RGD:9068941 20220331 RGD PMID:22706148|PMID:30346985|REF_RGD_ID:151665755|REF_RGD_ID:8552768 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9002130 Bisphosphonate-Associated Osteonecrosis of the Jaw treatment ISO RGD:734049 D RGD:9068941 20200609 RGD associated with Multiple Myeloma PMID:21396799|REF_RGD_ID:11041182 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9002165 Diabetic Nephropathies ISO RGD:61817 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:renal glomerulus (rat) PMID:22903132|REF_RGD_ID:8552684 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9002189 High Myopia no_association ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:snps:5' utr, intron:g.-1482G>C, IVS11+80T>G (rs2269336, rs2075555) (human) PMID:18836165|REF_RGD_ID:8552655 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9002189 High Myopia susceptibility ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:snps:5' utr, intron:g.-2116T>G, g.-1482G>C, IVS11+80T>G (rs1107946, rs2269336, rs2075555) (human) PMID:17557158|REF_RGD_ID:8552654 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9002278 Metabolic Bone Diseases ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteopenia PMID:25741868|PMID:8364588 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9002369 osteogenesis imperfecta type 2C ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IIC PMID:1613761 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9002589 Bone Fractures ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent fractures PMID:25741868 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9003133 Hypertelorism ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868|PMID:8364588 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9003139 Cardiac Fibrosis ISO RGD:61817 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA:increased expression:heart PMID:21769867|REF_RGD_ID:5688337 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9003139 Cardiac Fibrosis ISO RGD:61817 D RGD:9068941 20230225 RGD protein:increased expression:blood serum (rat) PMID:27318893|REF_RGD_ID:156430318 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:19019833|REF_RGD_ID:8552780 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9003234 Hypertensive Nephropathy ISO RGD:61817 D RGD:9068941 20200609 RGD mRNA:increased expression:juxtamedullary cortex (rat) PMID:17977875|REF_RGD_ID:2290351 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9003507 Premature Birth ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature birth PMID:25741868|PMID:8364588 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9003611 Trachomatous Trichiasis ISO RGD:734049 D RGD:9068941 20200609 RGD mRNA:decreased expression:tarsal conjunctiva (human) PMID:20375326|REF_RGD_ID:8552676 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9004332 Osteoarthritis, Experimental treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:25128628|REF_RGD_ID:11041187 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181017 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9004797 Fetal Nutrition Disorders ISO RGD:61817 D RGD:9068941 20230202 RGD associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) PMID:23977013|REF_RGD_ID:155882570 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Postmenopausal osteoporosis PMID:10931857|PMID:12590186|PMID:15024692|PMID:15241796|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16879195|PMID:17078022|PMID:17309652|PMID:18412368|PMID:18553566|PMID:18704262|PMID:19344236|PMID:19358256|PMID:2037280|PMID:21249479|PMID:21567126|PMID:21667357|PMID:22589248|PMID:22753364|PMID:22855962|PMID:24390061|PMID:25086671|PMID:2542316|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26467025|PMID:27509835|PMID:27510842|PMID:27519266|PMID:28378289|PMID:28492532|PMID:28810924|PMID:31447884|PMID:32166892|PMID:33228694|PMID:33928192|PMID:33939306|PMID:7695699|PMID:7942841|PMID:8218237|PMID:8408653|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9005077 Joint Instability ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:10739762|PMID:17211858|PMID:23587214|PMID:25597651|PMID:25741868|PMID:28102596|PMID:28492532 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9005603 Muscle Hypotonia ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:8364588 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9005605 Arteriovenous Fistula ISO RGD:61817 D RGD:9068941 20200609 RGD in Long Evans rats;mRNA:increased expression:aorta PMID:16428894|REF_RGD_ID:8552771 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9005827 Spontaneous Fractures ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pathologic fracture PMID:25741868|PMID:8364588 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9006041 Osteoarthritis, Hip ISO RGD:734049 D RGD:9068941 20200609 RGD PMID:17187661|REF_RGD_ID:5688305 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9006041 Osteoarthritis, Hip no_association ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:SNP:intron:g.2046G>T (human) PMID:9811048|REF_RGD_ID:5688330 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9006041 Osteoarthritis, Hip susceptibility ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:SNP:intron:g.2046G>T (human) PMID:15880349|REF_RGD_ID:5688306 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9006045 Dissecting Aneurysm ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8757037 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9006190 Chronic Pancreatitis treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:21926544|REF_RGD_ID:8552779 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9006325 Ventral Hernia treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:26578432|REF_RGD_ID:11041579 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9006782 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 ISO RGD:734049 D RGD:7240710 20201223 OMIM 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9006782 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | ClinVar Annotator: match by term: OIEDS SYNDROME 1 PMID:10739762|PMID:11113887|PMID:11317364|PMID:12362985|PMID:15024745|PMID:15241796|PMID:15728585|PMID:15741671|PMID:16199547|PMID:16407265|PMID:17078022|PMID:17206620|PMID:17211858|PMID:17392686|PMID:17576681|PMID:18272325|PMID:18996919|PMID:19344236|PMID:19491628|PMID:20981092|PMID:21594610|PMID:21667357|PMID:22206639|PMID:23265383|PMID:23587214|PMID:23692737|PMID:24767406|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26467025|PMID:26627451|PMID:26799614|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27748872|PMID:28102596|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28725987|PMID:29499418|PMID:29595812|PMID:30614853|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31447884|PMID:7695699|PMID:7942841|PMID:8218237|PMID:8456808|PMID:8613526|PMID:8808594|PMID:9016532|PMID:9295084|PMID:9443882|PMID:9536098 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9006827 Lung Reperfusion Injury ISO RGD:62109 D RGD:9068941 20220915 RGD mRNA:increased expression:lung (mouse) PMID:34238924|REF_RGD_ID:153350155 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9006836 Contracture treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:26097527|REF_RGD_ID:11041578 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9007329 Human Viral Hepatitis ISO RGD:734049 D RGD:9068941 20200609 RGD PMID:1670041|REF_RGD_ID:5688335 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9007889 Nephrogenic Fibrosing Dermopathy ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20570839 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9008331 Tendon Injuries treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:20479531|REF_RGD_ID:8552700 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9008462 Lipodermatosclerosis ISO RGD:734049 D RGD:9068941 20200609 RGD mRNA:increased expression:dermis PMID:15727634|REF_RGD_ID:5688298 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9008763 Femoral Fractures treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:12412812|REF_RGD_ID:8552709 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9111 cutaneous leishmaniasis ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1061237, rs2586488 (human) PMID:25562121|REF_RGD_ID:11041176 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:916 liver benign neoplasm onset ISO RGD:61817 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:21295105|REF_RGD_ID:5130894 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9281 phenylketonuria ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phenylketonuria PMID:25741868 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9282 ocular hypertension ISO RGD:62109 D RGD:9068941 20200609 RGD PMID:19797236|REF_RGD_ID:8552669 12307448 COL1A1 collagen type I alpha 1 chain gene DOID:9446 cholangitis ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 12307508 PLEK pleckstrin gene DOID:11476 osteoporosis ISO RGD:1317946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12307508 PLEK pleckstrin gene DOID:630 genetic disease ISO RGD:1317946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307508 PLEK pleckstrin gene DOID:7148 rheumatoid arthritis ISO RGD:1317946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 12307508 PLEK pleckstrin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12307521 RGS22 regulator of G protein signaling 22 gene DOID:0111590 Cohen syndrome ISO RGD:1606803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12307521 RGS22 regulator of G protein signaling 22 gene DOID:630 genetic disease ISO RGD:1606803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307577 SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:731609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:25741868|PMID:28492532 12307577 SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha gene DOID:0080128 mitochondrial DNA depletion syndrome 9 ISO RGD:731609 D RGD:7240710 20180130 OMIM 12307577 SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha gene DOID:0080128 mitochondrial DNA depletion syndrome 9 ISO RGD:731609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 PMID:16199547|PMID:17287286|PMID:17576681|PMID:17668387|PMID:19526370|PMID:20197121|PMID:20227526|PMID:20453710|PMID:20693550|PMID:21639866|PMID:22980518|PMID:25326635|PMID:25741868|PMID:26475597|PMID:26827111|PMID:27484306|PMID:27896121|PMID:28492532|PMID:29217198|PMID:30470562|PMID:33230783|PMID:34023347|PMID:9536098 12307577 SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha gene DOID:630 genetic disease ISO RGD:731609 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12307577 SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha gene DOID:9000217 Stomach Neoplasms ISO RGD:731609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12307577 SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha gene DOID:9000918 Disease Progression ISO RGD:731609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12307590 APOE apolipoprotein E gene DOID:0050639 primary cutaneous amyloidosis ISO RGD:736378 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:9740234|REF_RGD_ID:7771598 12307590 APOE apolipoprotein E gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:15007105|REF_RGD_ID:12904641 12307590 APOE apolipoprotein E gene DOID:0050851 glomerulosclerosis ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:21907828|REF_RGD_ID:6903285 12307590 APOE apolipoprotein E gene DOID:0050851 glomerulosclerosis ISO RGD:2138 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus (rat) PMID:22207560|REF_RGD_ID:6903199 12307590 APOE apolipoprotein E gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:18515564|REF_RGD_ID:7771550 12307590 APOE apolipoprotein E gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:21184788|REF_RGD_ID:6904141 12307590 APOE apolipoprotein E gene DOID:0080665 warfarin resistance ISO RGD:736378 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Coumarin resistance PMID:10213549|PMID:10799751|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15326261|PMID:15557508|PMID:15668424|PMID:16103896|PMID:16143024|PMID:17289397|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19667110|PMID:19846850|PMID:20031551|PMID:20031582|PMID:21742527|PMID:22381401|PMID:22992668|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:25741868|PMID:27260402|PMID:29842932|PMID:2987927|PMID:2992507|PMID:32376954|PMID:3243553|PMID:3353383|PMID:3922972|PMID:6300187|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9343467|PMID:9649566|PMID:9932938 12307590 APOE apolipoprotein E gene DOID:0080666 warfarin sensitivity ISO RGD:736378 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Warfarin sensitivity PMID:10213549|PMID:10799751|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15326261|PMID:15557508|PMID:15668424|PMID:16103896|PMID:16143024|PMID:17289397|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19667110|PMID:19846850|PMID:20031551|PMID:20031582|PMID:21742527|PMID:22381401|PMID:22992668|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:25741868|PMID:27260402|PMID:29842932|PMID:2987927|PMID:2992507|PMID:32376954|PMID:3243553|PMID:3353383|PMID:3922972|PMID:6300187|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9343467|PMID:9649566|PMID:9932938 12307590 APOE apolipoprotein E gene DOID:0110014 age related macular degeneration 1 ISO RGD:736378 D RGD:7240710 20230517 OMIM 12307590 APOE apolipoprotein E gene DOID:0110014 age related macular degeneration 1 ISO RGD:736378 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 1 | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1 PMID:25741868|PMID:28492532 12307590 APOE apolipoprotein E gene DOID:0110035 Alzheimer's disease 2 ISO RGD:736378 D RGD:7240710 20230517 OMIM 12307590 APOE apolipoprotein E gene DOID:0110035 Alzheimer's disease 2 ISO RGD:736378 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Alzheimer disease 2 | ClinVar Annotator: match by term: Alzheimer disease associated with APOE E4 | ClinVar Annotator: match by term: Late-onset familial alzheimer disease PMID:10213549|PMID:10799751|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15326261|PMID:15557508|PMID:15668424|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19846850|PMID:21742527|PMID:22381401|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:25741868|PMID:27260402|PMID:28492532|PMID:29842932|PMID:2987927|PMID:32376954|PMID:3353383|PMID:3922972|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9343467|PMID:9932938 12307590 APOE apolipoprotein E gene DOID:0110040 Alzheimer's disease 4 ISO RGD:736378 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Alzheimer disease 4 | ClinVar Annotator: match by term: Alzheimer disease familial type 4 PMID:10213152|PMID:10213549|PMID:10799751|PMID:11068149|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15326261|PMID:15557508|PMID:15668424|PMID:16621646|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19846850|PMID:21742527|PMID:22381401|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:24082139|PMID:24644280|PMID:25741868|PMID:26802169|PMID:27260402|PMID:28492532|PMID:29842932|PMID:2987927|PMID:32058863|PMID:32376954|PMID:3353383|PMID:3922972|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9343467|PMID:9932938 12307590 APOE apolipoprotein E gene DOID:0110042 Alzheimer's disease 3 ISO RGD:736378 D RGD:7240710 20230517 OMIM 12307590 APOE apolipoprotein E gene DOID:0110042 Alzheimer's disease 3 ISO RGD:736378 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 | ClinVar Annotator: match by term: Alzheimer disease 3 PMID:10432380|PMID:18077821|PMID:25741868|PMID:28492532 12307590 APOE apolipoprotein E gene DOID:10003 sensorineural hearing loss susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:17454231|REF_RGD_ID:7771593 12307590 APOE apolipoprotein E gene DOID:10211 cholelithiasis susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs440446 (human) PMID:18296645|REF_RGD_ID:2317550 12307590 APOE apolipoprotein E gene DOID:10230 aortic atherosclerosis ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:29459263|REF_RGD_ID:13703129 12307590 APOE apolipoprotein E gene DOID:10652 Alzheimer's disease ISO RGD:736378 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early onset PMID:10213549|PMID:10799751|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15326261|PMID:15557508|PMID:15668424|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19846850|PMID:21742527|PMID:22381401|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:25741868|PMID:27260402|PMID:29842932|PMID:2987927|PMID:32376954|PMID:3353383|PMID:3922972|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9343467|PMID:9932938 12307590 APOE apolipoprotein E gene DOID:10652 Alzheimer's disease no_association ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-491A>T,-427T>C(human) PMID:18057979|REF_RGD_ID:7771594 12307590 APOE apolipoprotein E gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:SNP: :APOEe4(human) PMID:20574532|REF_RGD_ID:10427727 12307590 APOE apolipoprotein E gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotype:cds:p.C112R, (rs7412) (human) PMID:10027549|REF_RGD_ID:6903233 12307590 APOE apolipoprotein E gene DOID:10652 Alzheimer's disease treatment ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:20088507|REF_RGD_ID:12904712 12307590 APOE apolipoprotein E gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:16110302|REF_RGD_ID:7495786 12307590 APOE apolipoprotein E gene DOID:1070 primary open angle glaucoma no_association ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter: PMID:15525904|REF_RGD_ID:7495787 12307590 APOE apolipoprotein E gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:17706090|REF_RGD_ID:7771556 12307590 APOE apolipoprotein E gene DOID:1074 kidney failure ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20842518 12307590 APOE apolipoprotein E gene DOID:10763 hypertension ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20720404|PMID:22228705 12307590 APOE apolipoprotein E gene DOID:10763 hypertension onset ISO RGD:2138 D RGD:9068941 20200609 RGD mRNA:decreased expression:multiple (rat) PMID:20585107|REF_RGD_ID:6904214 12307590 APOE apolipoprotein E gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:16079201|REF_RGD_ID:7775015 12307590 APOE apolipoprotein E gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:9512153|REF_RGD_ID:7495762 12307590 APOE apolipoprotein E gene DOID:10976 membranous glomerulonephritis ISO RGD:2138 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:22785171|REF_RGD_ID:6903854 12307590 APOE apolipoprotein E gene DOID:11446 sciatic neuropathy ISO RGD:2138 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve: PMID:2493483|REF_RGD_ID:7495790 12307590 APOE apolipoprotein E gene DOID:1168 familial hyperlipidemia ISO RGD:2138 D RGD:9068941 20211112 RGD PMID:29459263|PMID:30796231|REF_RGD_ID:13703129|REF_RGD_ID:150521536 12307590 APOE apolipoprotein E gene DOID:1168 familial hyperlipidemia ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11947894|PMID:12871831|PMID:20530721|PMID:20937366 12307590 APOE apolipoprotein E gene DOID:1168 familial hyperlipidemia treatment ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:22762542|REF_RGD_ID:6903856 12307590 APOE apolipoprotein E gene DOID:1184 nephrotic syndrome ISO RGD:736378 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:2381443|REF_RGD_ID:12904707 12307590 APOE apolipoprotein E gene DOID:12217 Lewy body dementia ISO RGD:736378 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:21907175|REF_RGD_ID:7771591 12307590 APOE apolipoprotein E gene DOID:12241 beta thalassemia ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:22705320|REF_RGD_ID:11039491 12307590 APOE apolipoprotein E gene DOID:12365 malaria ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.C112R, p.C158R (human) PMID:24116184|REF_RGD_ID:11039486 12307590 APOE apolipoprotein E gene DOID:1287 cardiovascular system disease ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16544732 12307590 APOE apolipoprotein E gene DOID:12894 Sjogren's syndrome onset ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:15328426|REF_RGD_ID:7495765 12307590 APOE apolipoprotein E gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:16714771|REF_RGD_ID:1601240 12307590 APOE apolipoprotein E gene DOID:13001 carotid stenosis ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17243563 12307590 APOE apolipoprotein E gene DOID:13544 low tension glaucoma susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:16778644|REF_RGD_ID:7495800 12307590 APOE apolipoprotein E gene DOID:13550 angle-closure glaucoma susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:17706090|REF_RGD_ID:7771556 12307590 APOE apolipoprotein E gene DOID:13580 cholestasis ISO RGD:736378 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms;protein:increased expression:plasma PMID:19055369|REF_RGD_ID:2317548 12307590 APOE apolipoprotein E gene DOID:13641 exfoliation syndrome susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:15939044|REF_RGD_ID:7771555 12307590 APOE apolipoprotein E gene DOID:13809 familial combined hyperlipidemia ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotype:cds:p.C112R, p.R158C (human) PMID:12915220|PMID:17127808|REF_RGD_ID:1578481|REF_RGD_ID:1601231 12307590 APOE apolipoprotein E gene DOID:13810 familial hypercholesterolemia ISO RGD:736378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia 12307590 APOE apolipoprotein E gene DOID:14330 Parkinson's disease ISO RGD:736378 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:21907175|REF_RGD_ID:7771591 12307590 APOE apolipoprotein E gene DOID:1459 hypothyroidism ISO RGD:2138 D RGD:9068941 20200609 RGD protein:increased expression:plasma, high-density lipoprotein particle (rat) PMID:6816881|REF_RGD_ID:12904658 12307590 APOE apolipoprotein E gene DOID:1561 cognitive disorder ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18239197 12307590 APOE apolipoprotein E gene DOID:1612 breast cancer no_association ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymprphism:exon: PMID:16752225|REF_RGD_ID:7771592 12307590 APOE apolipoprotein E gene DOID:1612 breast cancer susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:15830139|REF_RGD_ID:7495789 12307590 APOE apolipoprotein E gene DOID:1793 pancreatic cancer ISO RGD:736378 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:16215274|REF_RGD_ID:2317552 12307590 APOE apolipoprotein E gene DOID:1920 hyperuricemia susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X; DNA:missense mutations:cds:p.C112R, p.R158C (human) PMID:15713714|REF_RGD_ID:1601235 12307590 APOE apolipoprotein E gene DOID:1936 atherosclerosis ISO RGD:2138 D RGD:9068941 20211112 RGD PMID:30796231|REF_RGD_ID:150521536 12307590 APOE apolipoprotein E gene DOID:1936 atherosclerosis ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:1411543|REF_RGD_ID:734968 12307590 APOE apolipoprotein E gene DOID:1936 atherosclerosis ISO RGD:736378 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:11095717|PMID:11231916|PMID:11947894|PMID:12871831|PMID:14594625|PMID:16020748|PMID:16303615|PMID:17438151|PMID:18093987|PMID:18269830|PMID:19124646|PMID:19682479|PMID:20093625|PMID:21043830|PMID:21512104|PMID:21908651|PMID:22005275|PMID:22022523|PMID:22228805|PMID:23148895|PMID:23639522|PMID:24017971|PMID:24096154|PMID:24330719|PMID:25020133|PMID:28483571|PMID:30376133|PMID:33861588|PMID:34673409|PMID:9169506|PMID:9409251|PMID:9649566 12307590 APOE apolipoprotein E gene DOID:1936 atherosclerosis treatment ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:7593602|REF_RGD_ID:7771549 12307590 APOE apolipoprotein E gene DOID:2030 anxiety disorder ISO RGD:736378 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32057829 12307590 APOE apolipoprotein E gene DOID:224 transient cerebral ischemia ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:19623195|REF_RGD_ID:6903926 12307590 APOE apolipoprotein E gene DOID:2349 arteriosclerosis ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17118406|PMID:18287887 12307590 APOE apolipoprotein E gene DOID:2377 multiple sclerosis ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048896 12307590 APOE apolipoprotein E gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:736378 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:15096402|PMID:34624384 12307590 APOE apolipoprotein E gene DOID:2921 glomerulonephritis ISO RGD:733604 D RGD:9068941 20200609 RGD Apoe(-/-) Id3(-/-) double knockout PMID:21801865|REF_RGD_ID:6903286 12307590 APOE apolipoprotein E gene DOID:299 adenocarcinoma ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20430468 12307590 APOE apolipoprotein E gene DOID:3121 gallbladder cancer susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs440446 (human) PMID:18296645|REF_RGD_ID:2317550 12307590 APOE apolipoprotein E gene DOID:3145 hyperlipoproteinemia type III ISO RGD:736378 D RGD:7240710 20230517 OMIM 12307590 APOE apolipoprotein E gene DOID:3145 hyperlipoproteinemia type III ISO RGD:736378 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: APOE5 VARIANT | ClinVar Annotator: match by term: Coronary artery disease, severe, susceptibility to | ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia | ClinVar Annotator: match by term: Floating-betalipoproteinemia | ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON) PMID:10587578|PMID:11500500|PMID:12774036|PMID:1356443|PMID:1360898|PMID:1361196|PMID:15096402|PMID:15256764|PMID:16103896|PMID:16143024|PMID:16690468|PMID:1713245|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:20981092|PMID:2101409|PMID:22069485|PMID:22992668|PMID:24239320|PMID:24507774|PMID:25502880|PMID:2556398|PMID:25741868|PMID:26377243|PMID:26802169|PMID:28492532|PMID:28559539|PMID:2992507|PMID:3029073|PMID:3038959|PMID:3243553|PMID:33116287|PMID:3721502|PMID:3745433|PMID:3771793|PMID:6300187|PMID:6795720|PMID:7175379|PMID:7635945|PMID:7735921|PMID:9157949|PMID:9176854|PMID:9649566 12307590 APOE apolipoprotein E gene DOID:3310 atopic dermatitis ISO RGD:736378 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19116453|REF_RGD_ID:11040546 12307590 APOE apolipoprotein E gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) PMID:8899655|REF_RGD_ID:12880359 12307590 APOE apolipoprotein E gene DOID:3393 coronary artery disease ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:28808185|REF_RGD_ID:13703132 12307590 APOE apolipoprotein E gene DOID:3393 coronary artery disease ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C112R (human) PMID:12860263|REF_RGD_ID:1578449 12307590 APOE apolipoprotein E gene DOID:3393 coronary artery disease ISO RGD:736378 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent;DNA:SNP:promoter:-219G>T (human) PMID:15059615|REF_RGD_ID:1626412 12307590 APOE apolipoprotein E gene DOID:3393 coronary artery disease susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:snp, missense mutation:promoter, cds:g.-219G>T, p.C112R (human) PMID:14563588|REF_RGD_ID:1580039 12307590 APOE apolipoprotein E gene DOID:3407 carotid artery disease ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18022660 12307590 APOE apolipoprotein E gene DOID:3525 middle cerebral artery infarction ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:19623195|REF_RGD_ID:6903926 12307590 APOE apolipoprotein E gene DOID:3526 cerebral infarction susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism: :3932T>C (human) PMID:17016617|REF_RGD_ID:1601237 12307590 APOE apolipoprotein E gene DOID:3905 lung carcinoma ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:24175756|REF_RGD_ID:11040551 12307590 APOE apolipoprotein E gene DOID:4423 sea-blue histiocytosis ISO RGD:736378 D RGD:7240710 20230517 OMIM 12307590 APOE apolipoprotein E gene DOID:4423 sea-blue histiocytosis ISO RGD:736378 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sea-blue histiocyte syndrome | ClinVar Annotator: match by term: Sea-blue histiocytosis PMID:25741868|PMID:28492532 12307590 APOE apolipoprotein E gene DOID:4448 macular degeneration ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16453339 12307590 APOE apolipoprotein E gene DOID:4448 macular degeneration ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:16079201|REF_RGD_ID:7775015 12307590 APOE apolipoprotein E gene DOID:4448 macular degeneration no_association ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:10859513|REF_RGD_ID:7771552 12307590 APOE apolipoprotein E gene DOID:4448 macular degeneration susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:haplotype:cds: PMID:19384966|REF_RGD_ID:7771587 12307590 APOE apolipoprotein E gene DOID:4448 macular degeneration susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:12567264|REF_RGD_ID:7495761 12307590 APOE apolipoprotein E gene DOID:4606 bile duct cancer susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs440446 (human) PMID:18296645|REF_RGD_ID:2317550 12307590 APOE apolipoprotein E gene DOID:5419 schizophrenia ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 12307590 APOE apolipoprotein E gene DOID:5679 retinal disease susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:17562993|REF_RGD_ID:7495760 12307590 APOE apolipoprotein E gene DOID:576 proteinuria ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20842518 12307590 APOE apolipoprotein E gene DOID:5844 myocardial infarction ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10587578 12307590 APOE apolipoprotein E gene DOID:5844 myocardial infarction ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotype:cds:p.C112R, p.C158R (human) PMID:10090925|REF_RGD_ID:10449412 12307590 APOE apolipoprotein E gene DOID:5844 myocardial infarction susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) PMID:17217375|REF_RGD_ID:1601229 12307590 APOE apolipoprotein E gene DOID:6000 congestive heart failure ISO RGD:736378 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia PMID:9787187|REF_RGD_ID:11039487 12307590 APOE apolipoprotein E gene DOID:630 genetic disease ISO RGD:736378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307590 APOE apolipoprotein E gene DOID:6713 cerebrovascular disease susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:17376122|REF_RGD_ID:1601227 12307590 APOE apolipoprotein E gene DOID:684 hepatocellular carcinoma ISO RGD:733604 D RGD:9068941 20200609 RGD protein:increased expression:liver, serum (mouse) PMID:21644509|REF_RGD_ID:6903288 12307590 APOE apolipoprotein E gene DOID:7693 abdominal aortic aneurysm ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:10841519|REF_RGD_ID:6903247 12307590 APOE apolipoprotein E gene DOID:7693 abdominal aortic aneurysm disease_progression ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotypes:cds:p.C112R (rs7412), p.R158C (rs429358) (human) PMID:10848855|REF_RGD_ID:1578483 12307590 APOE apolipoprotein E gene DOID:783 end stage renal disease ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:21705678|REF_RGD_ID:6903287 12307590 APOE apolipoprotein E gene DOID:783 end stage renal disease ISO RGD:736378 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21332332|REF_RGD_ID:6904217 12307590 APOE apolipoprotein E gene DOID:8566 herpes simplex ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:17101197|REF_RGD_ID:7771596 12307590 APOE apolipoprotein E gene DOID:8893 psoriasis ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16433808 12307590 APOE apolipoprotein E gene DOID:8893 psoriasis susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:SNP: :3937C>T(human) PMID:16433808|REF_RGD_ID:7495788 12307590 APOE apolipoprotein E gene DOID:8893 psoriasis susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:19499236|REF_RGD_ID:7771595 12307590 APOE apolipoprotein E gene DOID:893 Wilson disease ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10686180 12307590 APOE apolipoprotein E gene DOID:8947 diabetic retinopathy no_association ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:11495633|REF_RGD_ID:7771553 12307590 APOE apolipoprotein E gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD associated with Diabetic Mellitus type 2;DNA:polymorphism:exon: PMID:16862278|REF_RGD_ID:7771557 12307590 APOE apolipoprotein E gene DOID:9000039 Spinal Cord Injuries ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:30036659|REF_RGD_ID:13703128 12307590 APOE apolipoprotein E gene DOID:9000039 Spinal Cord Injuries ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:18581664|REF_RGD_ID:7771551 12307590 APOE apolipoprotein E gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:736378 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:17438151|PMID:18093987|PMID:19124646|PMID:20720404|PMID:22770994|PMID:22869926|PMID:24330719|PMID:24933211|PMID:29355567|PMID:29425287|PMID:30376133|PMID:30533443|PMID:32081687|PMID:32853627|PMID:34862716 12307590 APOE apolipoprotein E gene DOID:9000185 Coumarin Sensitivity ISO RGD:736378 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: COUMARIN SENSITIVITY PMID:10213549|PMID:10799751|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15326261|PMID:15557508|PMID:15668424|PMID:16103896|PMID:16143024|PMID:17289397|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19667110|PMID:19846850|PMID:20031551|PMID:20031582|PMID:21742527|PMID:22381401|PMID:22992668|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:25741868|PMID:27260402|PMID:29842932|PMID:2987927|PMID:2992507|PMID:32376954|PMID:3243553|PMID:3353383|PMID:3922972|PMID:6300187|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9343467|PMID:9649566|PMID:9932938 12307590 APOE apolipoprotein E gene DOID:9000352 Vascular System Injuries ISO RGD:2138 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (rat) PMID:21416056|REF_RGD_ID:5509868 12307590 APOE apolipoprotein E gene DOID:9000352 Vascular System Injuries ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:21163611|REF_RGD_ID:6904145 12307590 APOE apolipoprotein E gene DOID:9000412 Presenile and Senile Dementia ISO RGD:736378 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Presenile and senile dementia PMID:10213549|PMID:10799751|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15326261|PMID:15557508|PMID:15668424|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19846850|PMID:21742527|PMID:22381401|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:25741868|PMID:27260402|PMID:29842932|PMID:2987927|PMID:32376954|PMID:3353383|PMID:3922972|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9343467|PMID:9932938 12307590 APOE apolipoprotein E gene DOID:9000528 Coronary Disease ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10736278 12307590 APOE apolipoprotein E gene DOID:9000528 Coronary Disease onset ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:promoter, cds:g.-219G>T, p.C112R, p.R158C (human) PMID:11862316|REF_RGD_ID:1578479 12307590 APOE apolipoprotein E gene DOID:9000784 Fibrosis ISO RGD:736378 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32081687 12307590 APOE apolipoprotein E gene DOID:9000808 Hypercholesterolemia ISO RGD:736378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar Annotator: match by term: Hypercholesterolemia PMID:16103896|PMID:16143024|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:22992668|PMID:25741868|PMID:2992507|PMID:3243553|PMID:6300187|PMID:9649566 12307590 APOE apolipoprotein E gene DOID:9000808 Hypercholesterolemia severity ISO RGD:736378 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; DNA:missense mutations, haplotype:cds:p.C130R, p.C176R (human) PMID:21357213|REF_RGD_ID:6903838 12307590 APOE apolipoprotein E gene DOID:9000808 Hypercholesterolemia susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) PMID:17217375|REF_RGD_ID:1601229 12307590 APOE apolipoprotein E gene DOID:9000918 Disease Progression ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24473795 12307590 APOE apolipoprotein E gene DOID:9000936 Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d ISO RGD:736378 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dysbetalipoproteinemia due to defect in apolipoprotein e-d PMID:11500500|PMID:16103896|PMID:16143024|PMID:16690468|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:20981092|PMID:22069485|PMID:22992668|PMID:24239320|PMID:24507774|PMID:25502880|PMID:25741868|PMID:26377243|PMID:26802169|PMID:28492532|PMID:28559539|PMID:2992507|PMID:3243553|PMID:33116287|PMID:3745433|PMID:6300187|PMID:7735921|PMID:9157949|PMID:9649566 12307590 APOE apolipoprotein E gene DOID:9000965 Neoplasm Metastasis ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:22469977|REF_RGD_ID:7771597 12307590 APOE apolipoprotein E gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2138 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve (rat) PMID:2419900|REF_RGD_ID:6906875 12307590 APOE apolipoprotein E gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:736378 D RGD:9068941 20200609 RGD mouse model treated with human peptide PMID:20406857|REF_RGD_ID:6906874 12307590 APOE apolipoprotein E gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:15077085|REF_RGD_ID:11039488 12307590 APOE apolipoprotein E gene DOID:9002165 Diabetic Nephropathies ISO RGD:733604 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22859852|REF_RGD_ID:6902935 12307590 APOE apolipoprotein E gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:736378 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, type 1; PMID:11495633|REF_RGD_ID:7771553 12307590 APOE apolipoprotein E gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotype:cds:p.C112R, p.R158C (human) PMID:21127830|REF_RGD_ID:6903840 12307590 APOE apolipoprotein E gene DOID:9002208 Familial Hyperbeta- and Prebetalipoproteinemia ISO RGD:736378 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial hyperbeta- and prebetalipoproteinemia PMID:11500500|PMID:16103896|PMID:16143024|PMID:16690468|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:20981092|PMID:22069485|PMID:22992668|PMID:24239320|PMID:24507774|PMID:25502880|PMID:25741868|PMID:26377243|PMID:26802169|PMID:28492532|PMID:28559539|PMID:2992507|PMID:3243553|PMID:33116287|PMID:3745433|PMID:6300187|PMID:7735921|PMID:9157949|PMID:9649566 12307590 APOE apolipoprotein E gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:18784741|REF_RGD_ID:11040549 12307590 APOE apolipoprotein E gene DOID:9002231 Fetal Growth Retardation ISO RGD:2138 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland (rat) PMID:19923365|REF_RGD_ID:4891147 12307590 APOE apolipoprotein E gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:736378 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32057829 12307590 APOE apolipoprotein E gene DOID:9002676 Cerebral Hemorrhage ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotype:cds:p.C112R (rs7412) (human) PMID:19251191|REF_RGD_ID:6904207 12307590 APOE apolipoprotein E gene DOID:9002720 Splenomegaly ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11095479 12307590 APOE apolipoprotein E gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:28578430|REF_RGD_ID:13703134 12307590 APOE apolipoprotein E gene DOID:9002775 Cognitive Dysfunction susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:12231459|REF_RGD_ID:7495797 12307590 APOE apolipoprotein E gene DOID:9002822 Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis ISO RGD:736378 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperlipemia with familial hypercholesterolemic xanthomatosis PMID:11500500|PMID:16103896|PMID:16143024|PMID:16690468|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:20981092|PMID:22069485|PMID:22992668|PMID:24239320|PMID:24507774|PMID:25502880|PMID:25741868|PMID:26377243|PMID:26802169|PMID:28492532|PMID:28559539|PMID:2992507|PMID:3243553|PMID:33116287|PMID:3745433|PMID:6300187|PMID:7735921|PMID:9157949|PMID:9649566 12307590 APOE apolipoprotein E gene DOID:9002884 Emphysema ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24096154 12307590 APOE apolipoprotein E gene DOID:9002955 Nerve Degeneration ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19522546 12307590 APOE apolipoprotein E gene DOID:9003065 Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia ISO RGD:736378 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism 12307590 APOE apolipoprotein E gene DOID:9003281 Spontaneous Abortions ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22266326 12307590 APOE apolipoprotein E gene DOID:9003370 Dyslipidemias ISO RGD:736378 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dyslipidemia 12307590 APOE apolipoprotein E gene DOID:9003468 Apolipoprotein E, Deficiency or Defect of ISO RGD:736378 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Apolipoprotein e, deficiency or defect of PMID:11500500|PMID:16103896|PMID:16143024|PMID:16690468|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:20981092|PMID:22069485|PMID:22992668|PMID:24239320|PMID:24507774|PMID:25502880|PMID:25741868|PMID:26377243|PMID:26802169|PMID:28492532|PMID:28559539|PMID:2992507|PMID:3243553|PMID:33116287|PMID:3745433|PMID:6300187|PMID:7735921|PMID:9157949|PMID:9649566 12307590 APOE apolipoprotein E gene DOID:9003556 Floating-Betalipoproteinemia ISO RGD:736378 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Floating-betalipoproteinemia PMID:11500500|PMID:16103896|PMID:16143024|PMID:16690468|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:20981092|PMID:22069485|PMID:22992668|PMID:24239320|PMID:24507774|PMID:25502880|PMID:25741868|PMID:26377243|PMID:26802169|PMID:28492532|PMID:28559539|PMID:2992507|PMID:3243553|PMID:33116287|PMID:3745433|PMID:6300187|PMID:7735921|PMID:9157949|PMID:9649566 12307590 APOE apolipoprotein E gene DOID:9003709 Mercury Poisoning ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16891999 12307590 APOE apolipoprotein E gene DOID:9003828 Klebsiella Infections severity ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:10998083|REF_RGD_ID:11039489 12307590 APOE apolipoprotein E gene DOID:9003870 Herpes Simplex Encephalitis susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:11118260|REF_RGD_ID:7771554 12307590 APOE apolipoprotein E gene DOID:9003871 Venous Thrombosis ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:22119245|REF_RGD_ID:6903200 12307590 APOE apolipoprotein E gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:12143056|REF_RGD_ID:7495764 12307590 APOE apolipoprotein E gene DOID:9004538 Hearing Loss ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19738398 12307590 APOE apolipoprotein E gene DOID:9004769 Broad-Betalipoproteinemia ISO RGD:736378 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Broad beta disease | ClinVar Annotator: match by term: Broad-betalipoproteinemia PMID:11500500|PMID:16103896|PMID:16143024|PMID:16690468|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:20981092|PMID:22069485|PMID:22992668|PMID:24239320|PMID:24507774|PMID:25502880|PMID:25741868|PMID:26377243|PMID:26802169|PMID:28492532|PMID:28559539|PMID:2992507|PMID:3243553|PMID:33116287|PMID:3745433|PMID:6300187|PMID:7735921|PMID:9157949|PMID:9649566 12307590 APOE apolipoprotein E gene DOID:9005172 Lung Neoplasms ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19180532|PMID:20430468 12307590 APOE apolipoprotein E gene DOID:9005179 Chronic Brain Injury susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:9214529|REF_RGD_ID:7495763 12307590 APOE apolipoprotein E gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:22469977|REF_RGD_ID:7771597 12307590 APOE apolipoprotein E gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 12307590 APOE apolipoprotein E gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2138 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (rat) PMID:16947119|REF_RGD_ID:1599198 12307590 APOE apolipoprotein E gene DOID:9005930 Endotoxemia ISO RGD:736378 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:9153287|REF_RGD_ID:6904216 12307590 APOE apolipoprotein E gene DOID:9006599 Hypertriglyceridemia ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:28808185|REF_RGD_ID:13703132 12307590 APOE apolipoprotein E gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X; DNA:missense mutations:cds:p.C112R, p.R158C (human) PMID:15713714|REF_RGD_ID:1601235 12307590 APOE apolipoprotein E gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:8413767|REF_RGD_ID:11040583 12307590 APOE apolipoprotein E gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-219G>T (human) PMID:17006673|REF_RGD_ID:1601238 12307590 APOE apolipoprotein E gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 12307590 APOE apolipoprotein E gene DOID:9007479 Habitual Abortions ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:19086990|REF_RGD_ID:11039490 12307590 APOE apolipoprotein E gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:2138 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, synapse PMID:28620701|REF_RGD_ID:13703133 12307590 APOE apolipoprotein E gene DOID:9007973 Genetic Translocation ISO RGD:736378 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:34670124 12307590 APOE apolipoprotein E gene DOID:9008023 Memory Disorders ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:8584214|REF_RGD_ID:12904706 12307590 APOE apolipoprotein E gene DOID:9008023 Memory Disorders ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) PMID:11714102|REF_RGD_ID:1578426 12307590 APOE apolipoprotein E gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.C112R, p.R158C (human) PMID:20961200|REF_RGD_ID:14401585 12307590 APOE apolipoprotein E gene DOID:9008549 Lipoprotein Glomerulopathy ISO RGD:736378 D RGD:7240710 20230517 OMIM 12307590 APOE apolipoprotein E gene DOID:9008549 Lipoprotein Glomerulopathy ISO RGD:736378 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lipoprotein glomerulopathy PMID:10213549|PMID:10432380|PMID:10799751|PMID:10903326|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15256764|PMID:15326261|PMID:15557508|PMID:15668424|PMID:18077821|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19846850|PMID:2101409|PMID:21742527|PMID:22381401|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:25741868|PMID:27260402|PMID:28492532|PMID:29842932|PMID:2987927|PMID:32376954|PMID:3243553|PMID:3353383|PMID:3922972|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9176854|PMID:9343467|PMID:9932938 12307590 APOE apolipoprotein E gene DOID:9008808 Pregnancy Complications, Infectious treatment ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:22341339|REF_RGD_ID:12904700 12307590 APOE apolipoprotein E gene DOID:9120 amyloidosis ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15993987 12307590 APOE apolipoprotein E gene DOID:9246 cerebral amyloid angiopathy ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11061249 12307590 APOE apolipoprotein E gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:22762542|REF_RGD_ID:6903856 12307590 APOE apolipoprotein E gene DOID:9351 diabetes mellitus treatment ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:17192461|REF_RGD_ID:1601230 12307590 APOE apolipoprotein E gene DOID:9352 type 2 diabetes mellitus ISO RGD:736378 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic islet PMID:18950899|REF_RGD_ID:2317556 12307590 APOE apolipoprotein E gene DOID:9452 fatty liver disease ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:29459263|REF_RGD_ID:13703129 12307590 APOE apolipoprotein E gene DOID:9452 fatty liver disease ISO RGD:736378 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32853627 12307590 APOE apolipoprotein E gene DOID:9538 multiple myeloma treatment ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:22348216|REF_RGD_ID:11040544 12307590 APOE apolipoprotein E gene DOID:9744 type 1 diabetes mellitus ISO RGD:736378 D RGD:9068941 20200609 RGD protein:decreased expression:urine (human) PMID:22678621|REF_RGD_ID:6903197 12307590 APOE apolipoprotein E gene DOID:9970 obesity ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:17192461|REF_RGD_ID:1601230 12307590 APOE apolipoprotein E gene DOID:9970 obesity ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20975297 12307590 APOE apolipoprotein E gene DOID:9970 obesity ISO RGD:736378 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9002300|REF_RGD_ID:1601191 12307605 ERGIC3 ERGIC and golgi 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1317746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27588471 12307605 ERGIC3 ERGIC and golgi 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27588471 12307605 ERGIC3 ERGIC and golgi 3 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1317747 D RGD:9068941 20220812 RGD PMID:27588471|REF_RGD_ID:153323314 12307605 ERGIC3 ERGIC and golgi 3 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1317746 D RGD:9068941 20220812 RGD mRNA,protein:increased expression:lung (human) PMID:23374247|REF_RGD_ID:151708716 12307605 ERGIC3 ERGIC and golgi 3 gene DOID:630 genetic disease ISO RGD:1317746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307605 ERGIC3 ERGIC and golgi 3 gene DOID:9002170 Experimental Neoplasms ISO RGD:1317746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27588471 12307605 ERGIC3 ERGIC and golgi 3 gene DOID:9005172 Lung Neoplasms ISO RGD:1317746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27588471 12307635 CIMIP2B ciliary microtubule inner protein 2B gene DOID:0050778 Meckel syndrome ISO RGD:2293907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 12307635 CIMIP2B ciliary microtubule inner protein 2B gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:2293907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12307635 CIMIP2B ciliary microtubule inner protein 2B gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:2293907 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12307635 CIMIP2B ciliary microtubule inner protein 2B gene DOID:0080942 anauxetic dysplasia ISO RGD:2293907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12307635 CIMIP2B ciliary microtubule inner protein 2B gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:2293907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12307635 CIMIP2B ciliary microtubule inner protein 2B gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:2293907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12307635 CIMIP2B ciliary microtubule inner protein 2B gene DOID:630 genetic disease ISO RGD:2293907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307635 CIMIP2B ciliary microtubule inner protein 2B gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:2293907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12307635 CIMIP2B ciliary microtubule inner protein 2B gene DOID:9562 primary ciliary dyskinesia ISO RGD:2293907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12307635 CIMIP2B ciliary microtubule inner protein 2B gene DOID:9870 galactosemia ISO RGD:2293907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12307659 FHDC1 FH2 domain containing 1 gene DOID:630 genetic disease ISO RGD:1604560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307685 LRRC10B leucine rich repeat containing 10B gene DOID:0050773 paraganglioma ISO RGD:3208116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:22241717|PMID:26096992|PMID:28492532 12307685 LRRC10B leucine rich repeat containing 10B gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:3208116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12307685 LRRC10B leucine rich repeat containing 10B gene DOID:1059 intellectual disability ISO RGD:3208116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12307685 LRRC10B leucine rich repeat containing 10B gene DOID:630 genetic disease ISO RGD:3208116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307685 LRRC10B leucine rich repeat containing 10B gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:3208116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:22241717|PMID:26096992|PMID:28492532 12307690 GDF15 growth differentiation factor 15 gene DOID:1909 melanoma ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 12307690 GDF15 growth differentiation factor 15 gene DOID:2355 anemia treatment ISO RGD:1344001 D RGD:9068941 20200609 RGD associated with Multiple Myeloma PMID:25052873|REF_RGD_ID:11041612 12307690 GDF15 growth differentiation factor 15 gene DOID:3393 coronary artery disease ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20855664 12307690 GDF15 growth differentiation factor 15 gene DOID:403 mouth disease ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 12307690 GDF15 growth differentiation factor 15 gene DOID:6000 congestive heart failure ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20855664 12307690 GDF15 growth differentiation factor 15 gene DOID:630 genetic disease ISO RGD:1344001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307690 GDF15 growth differentiation factor 15 gene DOID:684 hepatocellular carcinoma ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20512989 12307690 GDF15 growth differentiation factor 15 gene DOID:8955 sideroblastic anemia ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19036111 12307690 GDF15 growth differentiation factor 15 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23996089 12307690 GDF15 growth differentiation factor 15 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16775185|PMID:23996089 12307690 GDF15 growth differentiation factor 15 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19505289 12307690 GDF15 growth differentiation factor 15 gene DOID:9004657 Weight Gain ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12307690 GDF15 growth differentiation factor 15 gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24440808 12307690 GDF15 growth differentiation factor 15 gene DOID:9007102 Myocardial Ischemia ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12307690 GDF15 growth differentiation factor 15 gene DOID:9007346 Cachexia ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30782979 12307690 GDF15 growth differentiation factor 15 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1344001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12307699 PTPN5 protein tyrosine phosphatase non-receptor type 5 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:736589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 12307699 PTPN5 protein tyrosine phosphatase non-receptor type 5 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:736589 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 12307699 PTPN5 protein tyrosine phosphatase non-receptor type 5 gene DOID:1059 intellectual disability ISO RGD:736589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12307699 PTPN5 protein tyrosine phosphatase non-receptor type 5 gene DOID:10652 Alzheimer's disease ISO RGD:736589 D RGD:9068941 20200609 RGD protein:increased expression:prefrontal cortex (human) PMID:20427654|REF_RGD_ID:9835008 12307699 PTPN5 protein tyrosine phosphatase non-receptor type 5 gene DOID:10652 Alzheimer's disease ISO RGD:736590 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus (mouse) PMID:16237174|REF_RGD_ID:10044037 12307699 PTPN5 protein tyrosine phosphatase non-receptor type 5 gene DOID:10652 Alzheimer's disease severity ISO RGD:736590 D RGD:9068941 20200609 RGD PMID:20956308|REF_RGD_ID:9835007 12307699 PTPN5 protein tyrosine phosphatase non-receptor type 5 gene DOID:224 transient cerebral ischemia ISO RGD:3448 D RGD:9068941 20200609 RGD protein:decreased phosphorylation, decreased expression:striatum (rat) PMID:24198371|REF_RGD_ID:9835010 12307699 PTPN5 protein tyrosine phosphatase non-receptor type 5 gene DOID:224 transient cerebral ischemia severity ISO RGD:736590 D RGD:9068941 20200609 RGD PMID:24198371|REF_RGD_ID:9835010 12307699 PTPN5 protein tyrosine phosphatase non-receptor type 5 gene DOID:224 transient cerebral ischemia treatment ISO RGD:3448 D RGD:9068941 20200609 RGD PMID:24198371|REF_RGD_ID:9835010 12307699 PTPN5 protein tyrosine phosphatase non-receptor type 5 gene DOID:630 genetic disease ISO RGD:736589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307699 PTPN5 protein tyrosine phosphatase non-receptor type 5 gene DOID:9002955 Nerve Degeneration ISO RGD:736589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17360923 12307699 PTPN5 protein tyrosine phosphatase non-receptor type 5 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:3448 D RGD:9068941 20200609 RGD STEP33;protein:increased expression:forebrain (rat) PMID:10537057|REF_RGD_ID:9835021 12307699 PTPN5 protein tyrosine phosphatase non-receptor type 5 gene DOID:9008091 Optic Nerve Injuries ISO RGD:3448 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:15555919|REF_RGD_ID:9835027 12307734 RALGAPA2 Ral GTPase activating protein catalytic subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1343955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307784 RIT2 Ras like without CAAX 2 gene DOID:1059 intellectual disability ISO RGD:1316971 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12307784 RIT2 Ras like without CAAX 2 gene DOID:630 genetic disease ISO RGD:1316971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307784 RIT2 Ras like without CAAX 2 gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:1307654 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 12307821 CCDC137 coiled-coil domain containing 137 gene DOID:5419 schizophrenia ISO RGD:1625086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 12307821 CCDC137 coiled-coil domain containing 137 gene DOID:630 genetic disease ISO RGD:1625086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307834 ZDHHC15 zinc finger DHHC-type palmitoyltransferase 15 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12307834 ZDHHC15 zinc finger DHHC-type palmitoyltransferase 15 gene DOID:0112043 non-syndromic X-linked intellectual disability 91 ISO RGD:1345155 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked 91 PMID:15915161|PMID:25741868 12307834 ZDHHC15 zinc finger DHHC-type palmitoyltransferase 15 gene DOID:10965 spastic diplegia ISO RGD:1345155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic diplegia 12307834 ZDHHC15 zinc finger DHHC-type palmitoyltransferase 15 gene DOID:12849 autistic disorder ISO RGD:1345155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12307834 ZDHHC15 zinc finger DHHC-type palmitoyltransferase 15 gene DOID:630 genetic disease ISO RGD:1345155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307850 TSPAN18 tetraspanin 18 gene DOID:1059 intellectual disability ISO RGD:1605907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12307850 TSPAN18 tetraspanin 18 gene DOID:5419 schizophrenia ISO RGD:1605907 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22037552 12307850 TSPAN18 tetraspanin 18 gene DOID:630 genetic disease ISO RGD:1605907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307865 EPGN epithelial mitogen gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1605556 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12307875 CINP cyclin dependent kinase 2 interacting protein gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1602222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12307875 CINP cyclin dependent kinase 2 interacting protein gene DOID:1826 epilepsy ISO RGD:1602222 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:26539891 12307896 MIR139 microRNA mir-139 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1354349 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12307896 MIR139 microRNA mir-139 gene DOID:1059 intellectual disability ISO RGD:1354349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12307896 MIR139 microRNA mir-139 gene DOID:3073 brain glioblastoma multiforme ISO RGD:1354349 D RGD:9068941 20200609 RGD RNA:decreased expression:brain: PMID:26449464|REF_RGD_ID:13838722 12307896 MIR139 microRNA mir-139 gene DOID:684 hepatocellular carcinoma ISO RGD:1354349 D RGD:9068941 20220825 RGD RNA:decreased expression:liver (human) PMID:30710422|REF_RGD_ID:153344549 12307896 MIR139 microRNA mir-139 gene DOID:9452 fatty liver disease ISO RGD:1354349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12307953 LOC102155828 membrane-spanning 4-domains subfamily A member 3-like gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1321597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12307953 LOC102155828 membrane-spanning 4-domains subfamily A member 3-like gene DOID:1059 intellectual disability ISO RGD:1321597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12307953 LOC102155828 membrane-spanning 4-domains subfamily A member 3-like gene DOID:630 genetic disease ISO RGD:1321597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307965 LOC102156332 apolipoprotein L2-like gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1315120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12307965 LOC102156332 apolipoprotein L2-like gene DOID:630 genetic disease ISO RGD:1315120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12307978 PIERCE2 piercer of microtubule wall 2 gene DOID:0060833 Griscelli syndrome type 2 ISO RGD:7245658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 2 PMID:28492532 12307978 PIERCE2 piercer of microtubule wall 2 gene DOID:2717 Bloom syndrome ISO RGD:7245658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12307978 PIERCE2 piercer of microtubule wall 2 gene DOID:9256 colorectal cancer ISO RGD:7245658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12308005 KCNIP2 potassium voltage-gated channel interacting protein 2 gene DOID:630 genetic disease ISO RGD:734096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308005 KCNIP2 potassium voltage-gated channel interacting protein 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:737095 D RGD:9068941 20200609 RGD PMID:11747815|REF_RGD_ID:737786 12308019 SPATA6 spermatogenesis associated 6 gene DOID:630 genetic disease ISO RGD:732866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308038 LMCD1 LIM and cysteine rich domains 1 gene DOID:11502 mitral valve insufficiency ISO RGD:1319043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26301497 12308038 LMCD1 LIM and cysteine rich domains 1 gene DOID:4248 coronary stenosis ISO RGD:1319043 D RGD:9068941 20230413 RGD protein:increased expression:coronary artery PMID:32160773|REF_RGD_ID:243065232 12308038 LMCD1 LIM and cysteine rich domains 1 gene DOID:630 genetic disease ISO RGD:1319043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308038 LMCD1 LIM and cysteine rich domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12308038 LMCD1 LIM and cysteine rich domains 1 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1319043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12308038 LMCD1 LIM and cysteine rich domains 1 gene DOID:988 mitral valve prolapse ISO RGD:1319043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26301497 12308051 GOLGA3 golgin A3 gene DOID:630 genetic disease ISO RGD:1313187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308051 GOLGA3 golgin A3 gene DOID:9256 colorectal cancer ISO RGD:1313187 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 12308081 IPO11 importin 11 gene DOID:10908 hydrocephalus ISO RGD:36947729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 12308081 IPO11 importin 11 gene DOID:630 genetic disease ISO RGD:36947729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308081 IPO11 importin 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:36947729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12308081 IPO11 importin 11 gene DOID:9004657 Weight Gain ISO RGD:36947729 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12308118 SCAPER S-phase cyclin A associated protein in the ER gene DOID:0050572 cone-rod dystrophy ISO RGD:1345518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:28794130 12308118 SCAPER S-phase cyclin A associated protein in the ER gene DOID:10584 retinitis pigmentosa ISO RGD:1345518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic retinitis pigmentosa PMID:28794130|PMID:32214227 12308118 SCAPER S-phase cyclin A associated protein in the ER gene DOID:1059 intellectual disability ISO RGD:1345518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, moderate PMID:28794130 12308118 SCAPER S-phase cyclin A associated protein in the ER gene DOID:2717 Bloom syndrome ISO RGD:1345518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12308118 SCAPER S-phase cyclin A associated protein in the ER gene DOID:5419 schizophrenia ISO RGD:1345518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12308118 SCAPER S-phase cyclin A associated protein in the ER gene DOID:630 genetic disease ISO RGD:1345518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12308118 SCAPER S-phase cyclin A associated protein in the ER gene DOID:9001917 INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA ISO RGD:1345518 D RGD:7240710 20200115 OMIM 12308118 SCAPER S-phase cyclin A associated protein in the ER gene DOID:9001917 INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA ISO RGD:1345518 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA PMID:25741868|PMID:28492532|PMID:28794130|PMID:32214227 12308118 SCAPER S-phase cyclin A associated protein in the ER gene DOID:9256 colorectal cancer ISO RGD:1345518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12308118 SCAPER S-phase cyclin A associated protein in the ER gene DOID:9970 obesity ISO RGD:1345518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:30723319 12308158 TRPM5 transient receptor potential cation channel subfamily M member 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12308158 TRPM5 transient receptor potential cation channel subfamily M member 5 gene DOID:0080773 delta beta-thalassemia ISO RGD:1321629 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12308158 TRPM5 transient receptor potential cation channel subfamily M member 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12308158 TRPM5 transient receptor potential cation channel subfamily M member 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1321629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12308158 TRPM5 transient receptor potential cation channel subfamily M member 5 gene DOID:630 genetic disease ISO RGD:1321629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308158 TRPM5 transient receptor potential cation channel subfamily M member 5 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1321629 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12308187 SSH3 slingshot protein phosphatase 3 gene DOID:1059 intellectual disability ISO RGD:1318592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12308187 SSH3 slingshot protein phosphatase 3 gene DOID:630 genetic disease ISO RGD:1318592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308187 SSH3 slingshot protein phosphatase 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1318592 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12308187 SSH3 slingshot protein phosphatase 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1318592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12308207 PLCZ1 phospholipase C zeta 1 gene DOID:0070174 spermatogenic failure 17 ISO RGD:1347399 D RGD:7240710 20190315 OMIM 12308207 PLCZ1 phospholipase C zeta 1 gene DOID:0070174 spermatogenic failure 17 ISO RGD:1347399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 17 PMID:25741868|PMID:26721930|PMID:31463947 12308207 PLCZ1 phospholipase C zeta 1 gene DOID:630 genetic disease ISO RGD:1347399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308225 LMO3 LIM domain only 3 gene DOID:630 genetic disease ISO RGD:1346701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308260 LOC489080 synaptotagmin 15 gene DOID:5419 schizophrenia ISO RGD:30308885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12308260 LOC489080 synaptotagmin 15 gene DOID:630 genetic disease ISO RGD:30308885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308285 EEIG2 EEIG family member 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1603518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12308285 EEIG2 EEIG family member 2 gene DOID:12849 autistic disorder ISO RGD:1603518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12308285 EEIG2 EEIG family member 2 gene DOID:630 genetic disease ISO RGD:1603518 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308285 EEIG2 EEIG family member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603518 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12308300 EML1 EMAP like 1 gene DOID:0111169 subcortical band heterotopia ISO RGD:1343308 D RGD:7240710 20190315 OMIM 12308300 EML1 EMAP like 1 gene DOID:0111169 subcortical band heterotopia ISO RGD:1343308 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Band heterotopia of brain PMID:24859200|PMID:25741868|PMID:28492532|PMID:28556411 12308300 EML1 EMAP like 1 gene DOID:2490 congenital nervous system abnormality ISO RGD:1314955 D RGD:9068941 20220825 MouseDO 12308300 EML1 EMAP like 1 gene DOID:630 genetic disease ISO RGD:1343308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12308327 CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:10652 Alzheimer's disease ISO RGD:1553698 D RGD:9068941 20200609 RGD PMID:24725413|REF_RGD_ID:13782363 12308327 CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:10652 Alzheimer's disease ISO RGD:733787 D RGD:9068941 20200609 RGD PMID:28578378|REF_RGD_ID:13782362 12308327 CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:10652 Alzheimer's disease ISO RGD:733787 D RGD:9068941 20200609 RGD DNA:SNP:3' UTR:rs735555 (human) PMID:19154537|REF_RGD_ID:13782364 12308327 CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1553698 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 12308327 CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:12098 trigeminal neuralgia ISO RGD:629472 D RGD:9068941 20200609 RGD PMID:21161138|REF_RGD_ID:13782378 12308327 CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:1459 hypothyroidism ISO RGD:629472 D RGD:9068941 20200609 RGD PMID:22987596|REF_RGD_ID:13782376 12308327 CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:1561 cognitive disorder ISO RGD:733787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17581637 12308327 CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:1596 depressive disorder NOT ISO RGD:629472 D RGD:9068941 20200609 RGD PMID:21682945|REF_RGD_ID:13782377 12308327 CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:630 genetic disease ISO RGD:733787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308327 CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:629472 D RGD:9068941 20200609 RGD PMID:25301568|REF_RGD_ID:13782374 12308327 CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:9002955 Nerve Degeneration ISO RGD:733787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17581637 12308327 CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:629472 D RGD:9068941 20200609 RGD PMID:25665755|REF_RGD_ID:13782373 12308327 CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:936 brain disease ISO RGD:733787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15665076 12308337 ZCCHC14 zinc finger CCHC-type containing 14 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1349569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12308337 ZCCHC14 zinc finger CCHC-type containing 14 gene DOID:630 genetic disease ISO RGD:1349569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308337 ZCCHC14 zinc finger CCHC-type containing 14 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1349569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12308337 ZCCHC14 zinc finger CCHC-type containing 14 gene DOID:9007096 Stroke ISO RGD:1349569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 12308369 PLCB2 phospholipase C beta 2 gene DOID:13501 Moebius syndrome ISO RGD:732409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 12308369 PLCB2 phospholipase C beta 2 gene DOID:2717 Bloom syndrome ISO RGD:732409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12308369 PLCB2 phospholipase C beta 2 gene DOID:630 genetic disease ISO RGD:732409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308369 PLCB2 phospholipase C beta 2 gene DOID:9256 colorectal cancer ISO RGD:732409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12308418 MUC15 mucin 15, cell surface associated gene DOID:1059 intellectual disability ISO RGD:1351658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12308418 MUC15 mucin 15, cell surface associated gene DOID:543 dystonia ISO RGD:1351658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:17576681|PMID:28492532|PMID:9536098 12308418 MUC15 mucin 15, cell surface associated gene DOID:630 genetic disease ISO RGD:1351658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308466 DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1316654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12308466 DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1316654 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12308466 DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:0080942 anauxetic dysplasia ISO RGD:1316654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12308466 DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1316654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12308466 DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1316654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12308466 DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:423 myopathy ISO RGD:1316654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal myopathy PMID:23806086|PMID:24088041|PMID:26257172 12308466 DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:630 genetic disease ISO RGD:1316654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308466 DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1316654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12308466 DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12308466 DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:9870 galactosemia ISO RGD:1316654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12308496 TNNC1 troponin C1, slow skeletal and cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:1320524 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:18572189|PMID:19439414|PMID:20215591|PMID:20459070|PMID:21056975|PMID:21832052|PMID:22489623|PMID:23425245|PMID:24033266|PMID:24744096|PMID:24793961|PMID:25351510|PMID:25741868|PMID:26304555|PMID:26529187|PMID:26779504|PMID:26976709|PMID:27574918|PMID:27604170|PMID:27721798|PMID:28049727|PMID:28386062|PMID:28445763|PMID:28473771|PMID:28492532|PMID:28518168|PMID:28530094|PMID:28533433|PMID:28771489|PMID:28798025|PMID:29253866|PMID:29255176|PMID:30070845|PMID:30138628|PMID:30165862|PMID:30775854|PMID:30847666|PMID:31513939|PMID:32038292|PMID:32481709|PMID:32880476|PMID:33309763|PMID:33407484|PMID:33658040|PMID:35769956 12308496 TNNC1 troponin C1, slow skeletal and cardiac type gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1320524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12308496 TNNC1 troponin C1, slow skeletal and cardiac type gene DOID:0110319 hypertrophic cardiomyopathy 13 ISO RGD:1320524 D RGD:7240710 20180130 OMIM 12308496 TNNC1 troponin C1, slow skeletal and cardiac type gene DOID:0110319 hypertrophic cardiomyopathy 13 ISO RGD:1320524 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 13 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 13 PMID:11385718|PMID:16302972|PMID:17576681|PMID:18042489|PMID:18063575|PMID:18285522|PMID:18572189|PMID:18820258|PMID:19439414|PMID:19506933|PMID:20215591|PMID:20459070|PMID:21056975|PMID:21832052|PMID:22489623|PMID:22815480|PMID:23008774|PMID:23425245|PMID:23633581|PMID:24033266|PMID:24260207|PMID:24744096|PMID:24793961|PMID:25163546|PMID:25351510|PMID:25741868|PMID:26304555|PMID:26341255|PMID:26529187|PMID:26779504|PMID:26899768|PMID:26976709|PMID:27574918|PMID:27604170|PMID:27721798|PMID:28049727|PMID:28386062|PMID:28445763|PMID:28473771|PMID:28492532|PMID:28518168|PMID:28530094|PMID:28533433|PMID:28771489|PMID:28798025|PMID:29121657|PMID:29247119|PMID:29253866|PMID:29255176|PMID:30070845|PMID:30138628|PMID:30165862|PMID:30188508|PMID:30453078|PMID:30775854|PMID:30847666|PMID:31333075|PMID:31513939|PMID:31568572|PMID:32038292|PMID:32481709|PMID:32880476|PMID:33407484|PMID:33552729|PMID:33658040|PMID:35769956|PMID:9536098 12308496 TNNC1 troponin C1, slow skeletal and cardiac type gene DOID:0110434 dilated cardiomyopathy 1Z ISO RGD:1320524 D RGD:7240710 20180130 OMIM 12308496 TNNC1 troponin C1, slow skeletal and cardiac type gene DOID:0110434 dilated cardiomyopathy 1Z ISO RGD:1320524 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1Z PMID:11385718|PMID:15542288|PMID:16199547|PMID:16302972|PMID:17576681|PMID:18042489|PMID:18063575|PMID:18285522|PMID:18572189|PMID:18820258|PMID:19439414|PMID:19506933|PMID:20215591|PMID:20459070|PMID:21056975|PMID:21262074|PMID:21832052|PMID:22489623|PMID:22815480|PMID:23008774|PMID:23425245|PMID:23633581|PMID:23861362|PMID:24033266|PMID:24260207|PMID:24503780|PMID:24744096|PMID:24793961|PMID:25163546|PMID:25351510|PMID:25741868|PMID:26304555|PMID:26341255|PMID:26529187|PMID:26779504|PMID:26899768|PMID:26976709|PMID:27532257|PMID:27574918|PMID:27604170|PMID:27650965|PMID:27721798|PMID:28049727|PMID:28386062|PMID:28445763|PMID:28473771|PMID:28492532|PMID:28518168|PMID:28530094|PMID:28533433|PMID:28771489|PMID:28798025|PMID:28807990|PMID:29095814|PMID:29121657|PMID:29247119|PMID:29253866|PMID:29255176|PMID:30070845|PMID:30138628|PMID:30165862|PMID:30188508|PMID:30453078|PMID:30775854|PMID:30847666|PMID:31333075|PMID:31513939|PMID:31568572|PMID:31918855|PMID:31983221|PMID:32013205|PMID:32038292|PMID:32481709|PMID:32815737|PMID:32880476|PMID:33309763|PMID:33407484|PMID:33552729|PMID:33658040|PMID:35769956|PMID:9536098 12308496 TNNC1 troponin C1, slow skeletal and cardiac type gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1320524 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:18572189|PMID:19439414|PMID:20215591|PMID:20459070|PMID:21056975|PMID:21832052|PMID:24033266|PMID:24744096|PMID:25741868|PMID:27604170|PMID:28049727|PMID:28386062|PMID:28473771|PMID:28492532|PMID:28518168|PMID:28530094|PMID:28798025|PMID:29253866|PMID:30847666|PMID:32038292|PMID:33552729 12308496 TNNC1 troponin C1, slow skeletal and cardiac type gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1320524 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:18572189|PMID:19439414|PMID:20459070|PMID:21056975|PMID:22489623|PMID:23425245|PMID:24033266|PMID:24744096|PMID:24793961|PMID:25351510|PMID:25741868|PMID:26304555|PMID:26529187|PMID:26779504|PMID:26976709|PMID:27574918|PMID:27604170|PMID:27721798|PMID:28445763|PMID:28473771|PMID:28492532|PMID:28533433|PMID:28771489|PMID:29255176|PMID:30070845|PMID:30138628|PMID:30165862|PMID:30775854|PMID:30847666|PMID:31513939|PMID:32481709|PMID:32880476|PMID:33407484|PMID:33658040|PMID:35769956 12308496 TNNC1 troponin C1, slow skeletal and cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:1320524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:20215591|PMID:21832052|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28807990|PMID:31333075|PMID:31568572 12308496 TNNC1 troponin C1, slow skeletal and cardiac type gene DOID:630 genetic disease ISO RGD:1320524 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308496 TNNC1 troponin C1, slow skeletal and cardiac type gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1320524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 12308511 TRIM71 tripartite motif containing 71 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1606726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 12308511 TRIM71 tripartite motif containing 71 gene DOID:0080600 COVID-19 ISO RGD:1606726 D RGD:9068941 20220523 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12308511 TRIM71 tripartite motif containing 71 gene DOID:10908 hydrocephalus ISO RGD:1606726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:25741868|PMID:29983323 12308511 TRIM71 tripartite motif containing 71 gene DOID:630 genetic disease ISO RGD:1606726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308511 TRIM71 tripartite motif containing 71 gene DOID:9003436 CRYPTOZOOSPERMIA ISO RGD:1606726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptozoospermia PMID:25741868 12308511 TRIM71 tripartite motif containing 71 gene DOID:9007789 Congenital Communicating Hydrocephalus 1 ISO RGD:1606726 D RGD:7240710 20200422 OMIM 12308511 TRIM71 tripartite motif containing 71 gene DOID:9007789 Congenital Communicating Hydrocephalus 1 ISO RGD:1606726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrocephalus, congenital communicating, 1 PMID:25741868|PMID:29983323 12308519 RBL1 RB transcriptional corepressor like 1 gene DOID:2234 focal epilepsy ISO RGD:1313374 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12308519 RBL1 RB transcriptional corepressor like 1 gene DOID:630 genetic disease ISO RGD:1313374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308519 RBL1 RB transcriptional corepressor like 1 gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1313374 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 12308558 C1R complement C1r gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1319235 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12308558 C1R complement C1r gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1319235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12308558 C1R complement C1r gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1319235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12308558 C1R complement C1r gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1319235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12308558 C1R complement C1r gene DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 ISO RGD:1319235 D RGD:7240710 20190315 OMIM 12308558 C1R complement C1r gene DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 ISO RGD:1319235 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 PMID:12776252|PMID:2260589|PMID:22739343|PMID:25741868|PMID:27663155|PMID:27745832|PMID:33268848|PMID:34324282|PMID:890102 12308558 C1R complement C1r gene DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 ISO RGD:1319235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 PMID:12776252|PMID:2260589|PMID:22739343|PMID:27663155|PMID:27745832|PMID:890102 12308558 C1R complement C1r gene DOID:0111621 Temtamy syndrome ISO RGD:1319235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12308558 C1R complement C1r gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1319235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome 12308558 C1R complement C1r gene DOID:289 endometriosis ISO RGD:1319235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12308558 C1R complement C1r gene DOID:8725 vascular dementia ISO RGD:1319235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:25741868|PMID:33268848|PMID:35307828 12308558 C1R complement C1r gene DOID:9003565 Paratuberculosis ISO RGD:1319235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22633222 12308558 C1R complement C1r gene DOID:9007096 Stroke ISO RGD:1319235 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868 12308558 C1R complement C1r gene DOID:9007692 Insulin Resistance ISO RGD:1319235 D RGD:9068941 20200609 RGD protein:increased expression:adipocyte PMID:17244723|REF_RGD_ID:1600551 12308558 C1R complement C1r gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1319235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12308576 PEX26 peroxisomal biogenesis factor 26 gene DOID:0050444 infantile Refsum disease ISO RGD:1350248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:12717447|PMID:12851857|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16257970|PMID:19105186|PMID:19877282|PMID:21031596|PMID:25741868|PMID:26287655|PMID:26627908|PMID:27392320|PMID:28492532|PMID:28944237|PMID:29947050|PMID:30366024|PMID:30446579|PMID:9090381 12308576 PEX26 peroxisomal biogenesis factor 26 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1350248 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12851857 12308576 PEX26 peroxisomal biogenesis factor 26 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1350248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) PMID:16257970|PMID:25741868|PMID:28492532 12308576 PEX26 peroxisomal biogenesis factor 26 gene DOID:0080482 peroxisome biogenesis disorder 7A ISO RGD:1350248 D RGD:7240710 20180130 OMIM 12308576 PEX26 peroxisomal biogenesis factor 26 gene DOID:0080482 peroxisome biogenesis disorder 7A ISO RGD:1350248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A (Zellweger) PMID:12717447|PMID:12851857|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16257970|PMID:17336976|PMID:17576681|PMID:19105186|PMID:19877282|PMID:21031596|PMID:25016021|PMID:25640679|PMID:25741868|PMID:26287655|PMID:26627908|PMID:27392320|PMID:28492532|PMID:28944237|PMID:29947050|PMID:30366024|PMID:30446579|PMID:32140910|PMID:32552793|PMID:9090381|PMID:9536098 12308576 PEX26 peroxisomal biogenesis factor 26 gene DOID:0080623 Heimler syndrome 1 ISO RGD:1350248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heimler syndrome 1 PMID:28492532 12308576 PEX26 peroxisomal biogenesis factor 26 gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:1350248 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:25741868|PMID:28492532 12308576 PEX26 peroxisomal biogenesis factor 26 gene DOID:0111996 immunodeficiency 51 ISO RGD:1350248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12308576 PEX26 peroxisomal biogenesis factor 26 gene DOID:10588 adrenoleukodystrophy ISO RGD:1350248 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12851857 12308576 PEX26 peroxisomal biogenesis factor 26 gene DOID:11198 DiGeorge syndrome ISO RGD:1350248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 12308576 PEX26 peroxisomal biogenesis factor 26 gene DOID:630 genetic disease ISO RGD:1350248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12308576 PEX26 peroxisomal biogenesis factor 26 gene DOID:9002413 Peroxisome Biogenesis Disorder 7B ISO RGD:1350248 D RGD:7240710 20180130 OMIM 12308576 PEX26 peroxisomal biogenesis factor 26 gene DOID:9002413 Peroxisome Biogenesis Disorder 7B ISO RGD:1350248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7B PMID:12717447|PMID:12851857|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16257970|PMID:19105186|PMID:19877282|PMID:21031596|PMID:25016021|PMID:25741868|PMID:26287655|PMID:26627908|PMID:27392320|PMID:28492532|PMID:28944237|PMID:29947050|PMID:30366024|PMID:30446579|PMID:9090381 12308576 PEX26 peroxisomal biogenesis factor 26 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12308576 PEX26 peroxisomal biogenesis factor 26 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1350248 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12308576 PEX26 peroxisomal biogenesis factor 26 gene DOID:905 Zellweger syndrome ISO RGD:1350248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:12717447|PMID:12851857|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16257970|PMID:19105186|PMID:19877282|PMID:21031596|PMID:25741868|PMID:26287655|PMID:26627908|PMID:27392320|PMID:28492532|PMID:28944237|PMID:29947050|PMID:30366024|PMID:30446579|PMID:9090381 12308587 ACTRT2 actin related protein T2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1606455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12308587 ACTRT2 actin related protein T2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12308587 ACTRT2 actin related protein T2 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1606455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12308587 ACTRT2 actin related protein T2 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1606455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12308587 ACTRT2 actin related protein T2 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1606455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12308587 ACTRT2 actin related protein T2 gene DOID:0111934 immunodeficiency 38 ISO RGD:1606455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12308587 ACTRT2 actin related protein T2 gene DOID:0111935 immunodeficiency 16 ISO RGD:1606455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12308587 ACTRT2 actin related protein T2 gene DOID:630 genetic disease ISO RGD:1606455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308587 ACTRT2 actin related protein T2 gene DOID:9000058 Keloid ISO RGD:1606455 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12308587 ACTRT2 actin related protein T2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12308587 ACTRT2 actin related protein T2 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1606455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12308587 ACTRT2 actin related protein T2 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1606455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12308592 EDF1 endothelial differentiation related factor 1 gene DOID:0050777 Joubert syndrome ISO RGD:1317635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12308592 EDF1 endothelial differentiation related factor 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1317635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12308592 EDF1 endothelial differentiation related factor 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1317635 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12308592 EDF1 endothelial differentiation related factor 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1317635 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12308592 EDF1 endothelial differentiation related factor 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1317635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12308592 EDF1 endothelial differentiation related factor 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1317635 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12308592 EDF1 endothelial differentiation related factor 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1317635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12308592 EDF1 endothelial differentiation related factor 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1317635 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12308592 EDF1 endothelial differentiation related factor 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1317635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12308592 EDF1 endothelial differentiation related factor 1 gene DOID:3652 Leigh disease ISO RGD:1317635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12308592 EDF1 endothelial differentiation related factor 1 gene DOID:630 genetic disease ISO RGD:1317635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308592 EDF1 endothelial differentiation related factor 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1317635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12308601 ZNF41 zinc finger protein 41 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1346984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 12308601 ZNF41 zinc finger protein 41 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12308601 ZNF41 zinc finger protein 41 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1346984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 12308601 ZNF41 zinc finger protein 41 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1346984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12308601 ZNF41 zinc finger protein 41 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1346984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12308601 ZNF41 zinc finger protein 41 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1346984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 12308601 ZNF41 zinc finger protein 41 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1346984 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12308601 ZNF41 zinc finger protein 41 gene DOID:12849 autistic disorder ISO RGD:1346984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12308601 ZNF41 zinc finger protein 41 gene DOID:1561 cognitive disorder ISO RGD:1346984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14628291 12308601 ZNF41 zinc finger protein 41 gene DOID:630 genetic disease ISO RGD:1346984 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308601 ZNF41 zinc finger protein 41 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1346984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14628291 12308601 ZNF41 zinc finger protein 41 gene DOID:9008086 Developmental Disabilities ISO RGD:1346984 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12308632 ATP1B4 ATPase Na+/K+ transporting family member beta 4 gene DOID:0050437 Danon disease ISO RGD:736275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 12308632 ATP1B4 ATPase Na+/K+ transporting family member beta 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12308632 ATP1B4 ATPase Na+/K+ transporting family member beta 4 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:736275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 12308632 ATP1B4 ATPase Na+/K+ transporting family member beta 4 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:736275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 12308632 ATP1B4 ATPase Na+/K+ transporting family member beta 4 gene DOID:12849 autistic disorder ISO RGD:736275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12308632 ATP1B4 ATPase Na+/K+ transporting family member beta 4 gene DOID:630 genetic disease ISO RGD:736275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308649 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:0050553 JMP syndrome ISO RGD:1353044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12308649 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1353044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 12308649 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:0060260 ptosis ISO RGD:1353044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ptosis PMID:23161826|PMID:23708187|PMID:25741868|PMID:26989088|PMID:28492532|PMID:30440138|PMID:30541864 12308649 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:0060470 salt and pepper syndrome ISO RGD:1353044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile epilepsy syndrome PMID:23161826|PMID:23708187|PMID:25418537|PMID:25741868|PMID:26989088|PMID:28492532 12308649 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1353044 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy PMID:23161826|PMID:25741868|PMID:26989088|PMID:28492532 12308649 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1353044 D RGD:7240710 20180130 OMIM 12308649 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1353044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 | ClinVar Annotator: match by term: SYNGAP1-related developmental and epileptic encephalopathy | ClinVar Annotator: match by term: SYNGAP1-related encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:19196676|PMID:20683986|PMID:21237447|PMID:21376300|PMID:22692543|PMID:23161826|PMID:23687080|PMID:23708187|PMID:24690944|PMID:25167861|PMID:25186178|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25363768|PMID:25418537|PMID:25640679|PMID:25741868|PMID:25852444|PMID:26079862|PMID:26467025|PMID:26795593|PMID:26989088|PMID:27159028|PMID:27334371|PMID:28135719|PMID:28333917|PMID:28492532|PMID:28554332|PMID:28576131|PMID:28600779|PMID:28708303|PMID:29390993|PMID:29778030|PMID:30440138|PMID:30455457|PMID:30541864|PMID:30564305|PMID:30577886|PMID:30901256|PMID:31349857|PMID:31395010|PMID:31554424|PMID:31981491|PMID:32238909|PMID:32730690|PMID:33639450|PMID:34782754|PMID:9536098 12308649 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:0081181 autosomal recessive intellectual developmental disorder 5 ISO RGD:1353044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 5 PMID:23161826|PMID:23708187|PMID:25741868|PMID:26989088|PMID:27334371|PMID:28492532 12308649 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:1059 intellectual disability ISO RGD:1353044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21237447|PMID:23161826|PMID:23708187|PMID:25167861|PMID:25741868|PMID:26079862|PMID:26989088|PMID:28492532|PMID:28554332|PMID:30541864 12308649 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:12849 autistic disorder ISO RGD:1353044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20531469 12308649 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:1826 epilepsy ISO RGD:1353044 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12308649 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:5419 schizophrenia ISO RGD:1617329 D RGD:9068941 20220825 MouseDO OMIM:181500 12308649 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1353044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19196676|PMID:21237447|PMID:21376300|PMID:22692543|PMID:23033978|PMID:23161826|PMID:23708187|PMID:24690944|PMID:25326635|PMID:25356970|PMID:25418537|PMID:25741868|PMID:25852444|PMID:26467025|PMID:26795593|PMID:26989088|PMID:27334371|PMID:28492532|PMID:30541864|PMID:31349857|PMID:31395010|PMID:31554424|PMID:32730690|PMID:34782754|PMID:9581761 12308649 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1353044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 12308649 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12308649 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1353044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:16199547|PMID:21237447|PMID:23161826|PMID:23708187|PMID:25326635|PMID:25356970|PMID:25741868|PMID:26795593|PMID:26989088|PMID:28492532|PMID:28708303|PMID:29778030|PMID:30541864 12308649 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1353044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12308649 SYNGAP1 synaptic Ras GTPase activating protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1353044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12308671 PTK7 protein tyrosine kinase 7 (inactive) gene DOID:0050444 infantile Refsum disease ISO RGD:1344975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12308671 PTK7 protein tyrosine kinase 7 (inactive) gene DOID:630 genetic disease ISO RGD:1344975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308671 PTK7 protein tyrosine kinase 7 (inactive) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12308671 PTK7 protein tyrosine kinase 7 (inactive) gene DOID:905 Zellweger syndrome ISO RGD:1344975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12308695 MIOS meiosis regulator for oocyte development gene DOID:630 genetic disease ISO RGD:1601868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308731 GTF3C2 general transcription factor IIIC subunit 2 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1343562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12308731 GTF3C2 general transcription factor IIIC subunit 2 gene DOID:630 genetic disease ISO RGD:1343562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308754 NAV2 neuron navigator 2 gene DOID:0060224 atrial fibrillation ISO RGD:1320655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12308754 NAV2 neuron navigator 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1320655 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 12308754 NAV2 neuron navigator 2 gene DOID:1059 intellectual disability ISO RGD:1320655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12308754 NAV2 neuron navigator 2 gene DOID:630 genetic disease ISO RGD:1320655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12308812 DNAJC22 DnaJ heat shock protein family (Hsp40) member C22 gene DOID:630 genetic disease ISO RGD:1602458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308822 ANKRD34B ankyrin repeat domain 34B gene DOID:630 genetic disease ISO RGD:1604706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308822 ANKRD34B ankyrin repeat domain 34B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12308838 SLC36A3 solute carrier family 36 member 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319236 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12308838 SLC36A3 solute carrier family 36 member 3 gene DOID:4795 GM2 Gangliosidosis, AB variant ISO RGD:1319236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease, variant AB PMID:28492532 12308838 SLC36A3 solute carrier family 36 member 3 gene DOID:630 genetic disease ISO RGD:1319236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308838 SLC36A3 solute carrier family 36 member 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319236 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12308859 MARCHF10 membrane associated ring-CH-type finger 10 gene DOID:630 genetic disease ISO RGD:1601818 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308882 CLK1 CDC like kinase 1 gene DOID:630 genetic disease ISO RGD:1350391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308882 CLK1 CDC like kinase 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1350391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12308882 CLK1 CDC like kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12308896 PARP14 poly(ADP-ribose) polymerase family member 14 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1344897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12308896 PARP14 poly(ADP-ribose) polymerase family member 14 gene DOID:630 genetic disease ISO RGD:1344897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308896 PARP14 poly(ADP-ribose) polymerase family member 14 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1344897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12308896 PARP14 poly(ADP-ribose) polymerase family member 14 gene DOID:9270 alkaptonuria ISO RGD:1344897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12308920 RBFOX1 RNA binding fox-1 homolog 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12308920 RBFOX1 RNA binding fox-1 homolog 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1606794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy PMID:25741868 12308920 RBFOX1 RNA binding fox-1 homolog 1 gene DOID:12849 autistic disorder ISO RGD:1606794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12308920 RBFOX1 RNA binding fox-1 homolog 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1606794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:16199547|PMID:17576681|PMID:23286373|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28346479|PMID:28492532|PMID:29358611|PMID:31602316|PMID:31780880|PMID:9536098 12308920 RBFOX1 RNA binding fox-1 homolog 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1606794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:26467025|PMID:28346479|PMID:28492532|PMID:29358611 12308920 RBFOX1 RNA binding fox-1 homolog 1 gene DOID:5419 schizophrenia ISO RGD:1606794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12308920 RBFOX1 RNA binding fox-1 homolog 1 gene DOID:630 genetic disease ISO RGD:1606794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12308920 RBFOX1 RNA binding fox-1 homolog 1 gene DOID:9256 colorectal cancer ISO RGD:1606794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 12308985 RGCC regulator of cell cycle gene DOID:630 genetic disease ISO RGD:733140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12308985 RGCC regulator of cell cycle gene DOID:9007102 Myocardial Ischemia ISO RGD:733140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12308990 NMNAT2 nicotinamide nucleotide adenylyltransferase 2 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1316464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12308990 NMNAT2 nicotinamide nucleotide adenylyltransferase 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1307331 D RGD:9068941 20200609 RGD protein:decreased expression, decreased activity:heart PMID:22449973|REF_RGD_ID:13782043 12308990 NMNAT2 nicotinamide nucleotide adenylyltransferase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1316464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12308990 NMNAT2 nicotinamide nucleotide adenylyltransferase 2 gene DOID:630 genetic disease ISO RGD:1316464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12574164 12308990 NMNAT2 nicotinamide nucleotide adenylyltransferase 2 gene DOID:8725 vascular dementia ISO RGD:1316464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 12308990 NMNAT2 nicotinamide nucleotide adenylyltransferase 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1316464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12308990 NMNAT2 nicotinamide nucleotide adenylyltransferase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12309010 CMTM4 CKLF like MARVEL transmembrane domain containing 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1320683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12309010 CMTM4 CKLF like MARVEL transmembrane domain containing 4 gene DOID:0110255 cataract 5 multiple types ISO RGD:1320683 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 12309010 CMTM4 CKLF like MARVEL transmembrane domain containing 4 gene DOID:630 genetic disease ISO RGD:1320683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309017 FRRS1L ferric chelate reductase 1 like gene DOID:0080435 developmental and epileptic encephalopathy 37 ISO RGD:1346527 D RGD:7240710 20190315 OMIM 12309017 FRRS1L ferric chelate reductase 1 like gene DOID:0080435 developmental and epileptic encephalopathy 37 ISO RGD:1346527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:21147040|PMID:22406018|PMID:25741868|PMID:27236917|PMID:27239025|PMID:28492532|PMID:30525197|PMID:30692144|PMID:32860008|PMID:32928027|PMID:9536098 12309017 FRRS1L ferric chelate reductase 1 like gene DOID:1826 epilepsy ISO RGD:1346527 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:21147040|PMID:25741868|PMID:27236917|PMID:27239025|PMID:28492532|PMID:32860008|PMID:32928027 12309017 FRRS1L ferric chelate reductase 1 like gene DOID:630 genetic disease ISO RGD:1346527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12309026 SH2B1 SH2B adaptor protein 1 gene DOID:0050692 Brody myopathy ISO RGD:1603671 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brody myopathy PMID:17882224|PMID:24707176|PMID:28492532 12309026 SH2B1 SH2B adaptor protein 1 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1603671 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 12309026 SH2B1 SH2B adaptor protein 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 12309026 SH2B1 SH2B adaptor protein 1 gene DOID:5419 schizophrenia ISO RGD:1603671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12309026 SH2B1 SH2B adaptor protein 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1603671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12309026 SH2B1 SH2B adaptor protein 1 gene DOID:630 genetic disease ISO RGD:1603671 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12309026 SH2B1 SH2B adaptor protein 1 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1603671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 12309026 SH2B1 SH2B adaptor protein 1 gene DOID:9970 obesity ISO RGD:1603671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19079261 12309064 UBE2E3 ubiquitin conjugating enzyme E2 E3 gene DOID:630 genetic disease ISO RGD:1318925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309105 LDAH lipid droplet associated hydrolase gene DOID:630 genetic disease ISO RGD:1605056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309105 LDAH lipid droplet associated hydrolase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20676098 12309127 NR4A3 nuclear receptor subfamily 4 group A member 3 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1348747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 12309127 NR4A3 nuclear receptor subfamily 4 group A member 3 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1348747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 12309127 NR4A3 nuclear receptor subfamily 4 group A member 3 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1348747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 12309127 NR4A3 nuclear receptor subfamily 4 group A member 3 gene DOID:1059 intellectual disability ISO RGD:1348747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12309127 NR4A3 nuclear receptor subfamily 4 group A member 3 gene DOID:12712 nephronophthisis ISO RGD:1348747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 12309127 NR4A3 nuclear receptor subfamily 4 group A member 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 12309127 NR4A3 nuclear receptor subfamily 4 group A member 3 gene DOID:4549 extraskeletal myxoid chondrosarcoma ISO RGD:1348747 D RGD:7240710 20190315 OMIM 12309127 NR4A3 nuclear receptor subfamily 4 group A member 3 gene DOID:630 genetic disease ISO RGD:1348747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309127 NR4A3 nuclear receptor subfamily 4 group A member 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1348747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12309127 NR4A3 nuclear receptor subfamily 4 group A member 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1348747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 12309127 NR4A3 nuclear receptor subfamily 4 group A member 3 gene DOID:9000808 Hypercholesterolemia ISO RGD:1348747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16005304 12309127 NR4A3 nuclear receptor subfamily 4 group A member 3 gene DOID:9007692 Insulin Resistance ISO RGD:1348747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17785466 12309143 ZMYND19 zinc finger MYND-type containing 19 gene DOID:0050777 Joubert syndrome ISO RGD:1353400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12309143 ZMYND19 zinc finger MYND-type containing 19 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1353400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12309143 ZMYND19 zinc finger MYND-type containing 19 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1353400 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12309143 ZMYND19 zinc finger MYND-type containing 19 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1353400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12309143 ZMYND19 zinc finger MYND-type containing 19 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353400 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12309143 ZMYND19 zinc finger MYND-type containing 19 gene DOID:0081097 Rafiq syndrome ISO RGD:1353400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12309143 ZMYND19 zinc finger MYND-type containing 19 gene DOID:1826 epilepsy ISO RGD:1353400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12309143 ZMYND19 zinc finger MYND-type containing 19 gene DOID:630 genetic disease ISO RGD:1353400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309143 ZMYND19 zinc finger MYND-type containing 19 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1353400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12309153 OR10A5 olfactory receptor family 10 subfamily A member 5 gene DOID:630 genetic disease ISO RGD:1353648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309156 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:0080202 adenoid cystic carcinoma treatment ISO RGD:1354062 D RGD:9068941 20211022 RGD PMID:23027130|REF_RGD_ID:150519921 12309156 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:10534 stomach cancer ameliorates ISO RGD:1354062 D RGD:9068941 20211022 RGD PMID:30452981|REF_RGD_ID:150519920 12309156 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:1824 status epilepticus ISO RGD:1354062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635431 12309156 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:2717 Bloom syndrome ISO RGD:1354062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12309156 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:289 endometriosis ISO RGD:1354062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12309156 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:3008 invasive ductal carcinoma ISO RGD:1354062 D RGD:9068941 20211022 RGD mRNA,protein:increased expression:breast: PMID:20802235|REF_RGD_ID:150520014 12309156 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:3070 high grade glioma ISO RGD:1354062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24705251 12309156 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1354062 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:10209957|REF_RGD_ID:2325663 12309156 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1354062 D RGD:9068941 20200609 RGD PMID:11295066|REF_RGD_ID:2325660 12309156 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:1354062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12309156 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:630 genetic disease ISO RGD:1354062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309156 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3214 D RGD:9068941 20200609 RGD mRNA:decreased expression:spinal cord PMID:18585435|REF_RGD_ID:2308892 12309156 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:9000403 Animal Mammary Neoplasms ameliorates ISO RGD:737043 D RGD:9068941 20211022 RGD PMID:20802235|REF_RGD_ID:150520014 12309156 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3214 D RGD:9068941 20200609 RGD mRNA:decreased expression:dorsal root ganglion PMID:9541170|REF_RGD_ID:2325654 12309156 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:9009121 lung metastasis ameliorates ISO RGD:737043 D RGD:9068941 20211022 RGD associated with mammary carcinoma PMID:20802235|REF_RGD_ID:150520014 12309156 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1354062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29119387 12309156 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:9256 colorectal cancer ISO RGD:1354062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12309156 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1354062 D RGD:9068941 20211022 RGD PMID:33593392|REF_RGD_ID:150520009 12309177 MIR129-2 microRNA mir-129-2 gene DOID:14566 disease of cellular proliferation ISO RGD:1347371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29212414 12309226 KBTBD6 kelch repeat and BTB domain containing 6 gene DOID:630 genetic disease ISO RGD:1346287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309240 IL32 interleukin 32 gene DOID:0080356 IgG4-related disease treatment ISO RGD:1350575 D RGD:9068941 20210903 RGD PMID:26375328|REF_RGD_ID:150340730 12309240 IL32 interleukin 32 gene DOID:0080827 human cytomegalovirus infection exacerbates ISO RGD:1350575 D RGD:9068941 20210903 RGD protein:increased expression:blood serum (human) PMID:23402302|REF_RGD_ID:150340723 12309240 IL32 interleukin 32 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1350575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12309240 IL32 interleukin 32 gene DOID:10534 stomach cancer ISO RGD:1350575 D RGD:9068941 20210903 RGD associated with Helicobacter Infections; protein:increased expression:stomach (human) PMID:22890997|REF_RGD_ID:150340737 12309240 IL32 interleukin 32 gene DOID:10534 stomach cancer susceptibility ISO RGD:1350575 D RGD:9068941 20210903 RGD associated with Helicobacter Infections;DNA:SNP:enhancer:g.3123561T>A (rs2015620) (human) PMID:26358252|REF_RGD_ID:150340747 12309240 IL32 interleukin 32 gene DOID:11476 osteoporosis ameliorates ISO RGD:1350575 D RGD:9068941 20210903 RGD human gene in a mouse model PMID:28079119|REF_RGD_ID:150340724 12309240 IL32 interleukin 32 gene DOID:12662 paracoccidioidomycosis ISO RGD:1350575 D RGD:9068941 20210903 RGD protein:increased expression:mouth mucosa, mononuclear cell (human) PMID:33771629|REF_RGD_ID:150340738 12309240 IL32 interleukin 32 gene DOID:1513 chronic cervicitis treatment ISO RGD:1350575 D RGD:9068941 20210903 RGD associated with papillomavirus infectious disease PMID:29362599|REF_RGD_ID:150340753 12309240 IL32 interleukin 32 gene DOID:1826 epilepsy ISO RGD:1350575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12309240 IL32 interleukin 32 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1350575 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12309240 IL32 interleukin 32 gene DOID:2043 hepatitis B treatment ISO RGD:1350575 D RGD:9068941 20210903 RGD human gene variant in a mouse model PMID:30115930|REF_RGD_ID:150340732 12309240 IL32 interleukin 32 gene DOID:219 colon cancer disease_progression ISO RGD:1350575 D RGD:9068941 20210903 RGD mRNA:splice variant:colon (human) PMID:26824417|REF_RGD_ID:150340748 12309240 IL32 interleukin 32 gene DOID:2280 hidradenitis suppurativa exacerbates ISO RGD:1350575 D RGD:9068941 20210903 RGD mRNA,protein:increased expression:zone of skin, blood serum (human) PMID:28301691|REF_RGD_ID:150340720 12309240 IL32 interleukin 32 gene DOID:2377 multiple sclerosis ISO RGD:1350575 D RGD:9068941 20210903 RGD protein:increased expression:blood plasma (human) PMID:23180362|REF_RGD_ID:150340728 12309240 IL32 interleukin 32 gene DOID:2755 Mycobacterium avium complex disease ISO RGD:1350575 D RGD:9068941 20210903 RGD protein:increased expression:lung, respiratory epithelial cell (human) PMID:22033195|REF_RGD_ID:150340752 12309240 IL32 interleukin 32 gene DOID:2841 asthma ISO RGD:1350575 D RGD:9068941 20210903 RGD protein:increased expression:blood serum (human) PMID:22336080|REF_RGD_ID:150340749 12309240 IL32 interleukin 32 gene DOID:289 endometriosis exacerbates ISO RGD:1350575 D RGD:9068941 20210903 RGD protein:increased expression:plasma (human) PMID:30099220|REF_RGD_ID:150340750 12309240 IL32 interleukin 32 gene DOID:2957 pulmonary tuberculosis treatment ISO RGD:1350575 D RGD:9068941 20210903 RGD PMID:31378983|REF_RGD_ID:150340743 12309240 IL32 interleukin 32 gene DOID:3042 allergic contact dermatitis ISO RGD:1350575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17597826 12309240 IL32 interleukin 32 gene DOID:3310 atopic dermatitis ISO RGD:1350575 D RGD:9068941 20210903 RGD mRNA:splice variant:zone of skin (human) PMID:28301691|REF_RGD_ID:150340720 12309240 IL32 interleukin 32 gene DOID:4029 gastritis ISO RGD:1350575 D RGD:9068941 20210903 RGD associated with Helicobacter Infections; protein:increased expression:stomach (human) PMID:22890997|REF_RGD_ID:150340737 12309240 IL32 interleukin 32 gene DOID:4033 bacterial gastritis exacerbates ISO RGD:1350575 D RGD:9068941 20210903 RGD associated with Helicobacter Infections;mRNA, protein:increased expression:stomach (human) PMID:24633341|REF_RGD_ID:150340727 12309240 IL32 interleukin 32 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1350575 D RGD:9068941 20210903 RGD protein:increased expression:blood serum (human) PMID:18329725|REF_RGD_ID:150340725 12309240 IL32 interleukin 32 gene DOID:552 pneumonia ISO RGD:1350575 D RGD:9068941 20210903 RGD mRNA:increased expression:peripheral blood mononuclear cell, blood plasma (human) PMID:32860786|REF_RGD_ID:150340740 12309240 IL32 interleukin 32 gene DOID:630 genetic disease ISO RGD:1350575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309240 IL32 interleukin 32 gene DOID:684 hepatocellular carcinoma ISO RGD:1350575 D RGD:9068941 20210903 RGD associated with hepatitis C, liver cirrhosis:mRNA:increased expression:liver (human) PMID:17696935|REF_RGD_ID:150340754 12309240 IL32 interleukin 32 gene DOID:8541 Sezary's disease ISO RGD:1350575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 12309240 IL32 interleukin 32 gene DOID:8566 herpes simplex ISO RGD:1350575 D RGD:9068941 20210903 RGD associated with human immunodeficiency virus infectious disease; protein,mRNA:decreased expression:CD4-positive��helper��T��cell��(human) PMID:28007920|REF_RGD_ID:150340722 12309240 IL32 interleukin 32 gene DOID:8869 neuromyelitis optica exacerbates ISO RGD:1350575 D RGD:9068941 20210903 RGD protein:increased expression:blood plasma (human) PMID:23180362|REF_RGD_ID:150340728 12309240 IL32 interleukin 32 gene DOID:8893 psoriasis ISO RGD:1350575 D RGD:9068941 20210903 RGD mRNA:splice variant:zone of skin (human) PMID:28301691|REF_RGD_ID:150340720 12309240 IL32 interleukin 32 gene DOID:9000217 Stomach Neoplasms ISO RGD:1350575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 12309240 IL32 interleukin 32 gene DOID:9000238 Acute-On-Chronic Liver Failure exacerbates ISO RGD:1350575 D RGD:9068941 20210903 RGD associated with hepatitis B;protein:increased expression:liver (human) PMID:26241657|REF_RGD_ID:11079509 12309240 IL32 interleukin 32 gene DOID:9000371 influenza A ISO RGD:1350575 D RGD:9068941 20210903 RGD protein:increased expression:blood serum (human) PMID:18414668|PMID:19291698|PMID:22277801|REF_RGD_ID:150340718|REF_RGD_ID:150340729|REF_RGD_ID:150340751 12309240 IL32 interleukin 32 gene DOID:9001415 Mycobacterium Infections ameliorates ISO RGD:1350575 D RGD:9068941 20210903 RGD human gene in a mouse model PMID:25820174|REF_RGD_ID:150340726 12309240 IL32 interleukin 32 gene DOID:9002265 Kidney Neoplasms ISO RGD:1350575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 12309240 IL32 interleukin 32 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ameliorates ISO RGD:1350575 D RGD:9068941 20210903 RGD human gene in a mouse model PMID:26564962|REF_RGD_ID:150340739 12309240 IL32 interleukin 32 gene DOID:9002780 Recurrent Respiratory Papillomatosis ISO RGD:1350575 D RGD:9068941 20210903 RGD mRNA:decreased expression:blood serum (human) PMID:24015634|REF_RGD_ID:150340746 12309240 IL32 interleukin 32 gene DOID:9002928 Colonic Neoplasms ISO RGD:1350575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 12309240 IL32 interleukin 32 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1350575 D RGD:9068941 20210903 RGD mRNA, protein:increased expression:liver (human) PMID:21381070|REF_RGD_ID:150340721 12309240 IL32 interleukin 32 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1350575 D RGD:9068941 20210903 RGD PMID:25100847|REF_RGD_ID:150340741 12309240 IL32 interleukin 32 gene DOID:9005562 AIDS-Related Kaposi Sarcoma ISO RGD:1350575 D RGD:9068941 20210903 RGD mRNA:increased expression:zone of skin, blood serum (human) PMID:29037857|REF_RGD_ID:150340744 12309240 IL32 interleukin 32 gene DOID:9005930 Endotoxemia ameliorates ISO RGD:1350575 D RGD:9068941 20210903 RGD human gene in a mouse model PMID:24743568|REF_RGD_ID:150340731 12309240 IL32 interleukin 32 gene DOID:9007432 Latent Tuberculosis ISO RGD:1350575 D RGD:9068941 20210903 RGD mRNA:increased expression:blood (human) PMID:25143364|REF_RGD_ID:150340735 12309240 IL32 interleukin 32 gene DOID:9007874 Liver Failure exacerbates ISO RGD:1350575 D RGD:9068941 20210903 RGD hepatitis B;mRNA:increased expression:blood serum (human) PMID:24579465|REF_RGD_ID:150340745 12309240 IL32 interleukin 32 gene DOID:9008163 Chronic Hepatitis B exacerbates ISO RGD:1350575 D RGD:9068941 20210903 RGD mRNA, protein:increased expression:liver (human) PMID:22687868|REF_RGD_ID:150340733 12309240 IL32 interleukin 32 gene DOID:9111 cutaneous leishmaniasis ameliorates ISO RGD:1350575 D RGD:9068941 20210903 RGD PMID:28709468|REF_RGD_ID:150340742 12309240 IL32 interleukin 32 gene DOID:9111 cutaneous leishmaniasis susceptibility ISO RGD:1350575 D RGD:9068941 20210903 RGD DNA:SNPs:enhancers: (rs4786370, rs4349147) (human) PMID:32023240|REF_RGD_ID:150340717 12309240 IL32 interleukin 32 gene DOID:9146 visceral leishmaniasis ameliorates ISO RGD:1350575 D RGD:9068941 20210903 RGD human gene in a mouse model PMID:29483288|REF_RGD_ID:150340719 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:0050117 disease by infectious agent ISO RGD:1353417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Recurrent infections PMID:17080092|PMID:21119115|PMID:25666262|PMID:25741868|PMID:27747465|PMID:28492532|PMID:28936583 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1353417 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:0060704 lymphoproliferative syndrome ISO RGD:1353417 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Duncan disease | ClinVar Annotator: match by term: Lymphoproliferative disorder PMID:25741868|PMID:28492532 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:0060705 X-linked lymphoproliferative syndrome 1 ISO RGD:1353417 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked PMID:25741868|PMID:28492532 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:0060706 X-linked lymphoproliferative syndrome 2 ISO RGD:1353417 D RGD:7240710 20180130 OMIM 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:0060706 X-linked lymphoproliferative syndrome 2 ISO RGD:1353417 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked PMID:1543760|PMID:16199547|PMID:17080092|PMID:17576681|PMID:17989220|PMID:18068526|PMID:20015872|PMID:20517649|PMID:21119115|PMID:21173700|PMID:21281876|PMID:21543760|PMID:21674762|PMID:22228567|PMID:23131490|PMID:23818254|PMID:23944711|PMID:23973892|PMID:24033266|PMID:24084330|PMID:24616127|PMID:25640679|PMID:25666262|PMID:25741868|PMID:25801017|PMID:25943627|PMID:26581487|PMID:27317434|PMID:27537055|PMID:27747465|PMID:27815752|PMID:28492532|PMID:28936583|PMID:29312354|PMID:29501442|PMID:29665027|PMID:30755392|PMID:32542393|PMID:9536098 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1353417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:25741868 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:10283 prostate cancer ISO RGD:1353417 D RGD:9068941 20200609 RGD PMID:19415464|REF_RGD_ID:2315849 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:10283 prostate cancer disease_progression ISO RGD:1353417 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:17947468|REF_RGD_ID:2315852 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:12849 autistic disorder ISO RGD:1353417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:1612 breast cancer ISO RGD:1353417 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:19563669|REF_RGD_ID:2315848 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1353417 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:20517649|PMID:21119115|PMID:23944711|PMID:24033266|PMID:24616127|PMID:25741868|PMID:27537055|PMID:28492532 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:3007 breast ductal carcinoma severity ISO RGD:1353417 D RGD:9068941 20200609 RGD PMID:17350670|REF_RGD_ID:2315853 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:3459 breast carcinoma exacerbates ISO RGD:1353417 D RGD:9068941 20220818 RGD mRNA:increased expression:breast (human) PMID:31964418|REF_RGD_ID:153344516 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:1353417 D RGD:9068941 20220818 RGD mRNA:increased expression:stomach (human) PMID:31964418|REF_RGD_ID:153344516 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:3948 adrenocortical carcinoma ameliorates ISO RGD:1353417 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland (human) PMID:31964418|REF_RGD_ID:153344516 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1353417 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17332931|REF_RGD_ID:2315854 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:4465 papillary renal cell carcinoma exacerbates ISO RGD:1353417 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:4467 clear cell renal cell carcinoma ameliorates ISO RGD:1353417 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:630 genetic disease ISO RGD:1353417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:7474 malignant pleural mesothelioma ameliorates ISO RGD:1353417 D RGD:9068941 20220825 RGD mRNA:increased expression:pleura, lung (human) PMID:17253596|REF_RGD_ID:153344528 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1353417 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:18325467|REF_RGD_ID:2315850 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:9000117 Esophageal Neoplasms ISO RGD:1353417 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17611394 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:9002304 Prostatic Neoplasms severity ISO RGD:731857 D RGD:9068941 20200609 RGD PMID:18259199|REF_RGD_ID:2315851 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:9002762 Ovarian Neoplasms ISO RGD:1353417 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21442130 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:9002762 Ovarian Neoplasms ISO RGD:1353417 D RGD:9068941 20200609 RGD PMID:19758744|REF_RGD_ID:2315847 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:9003373 Uterine Cervical Neoplasms severity ISO RGD:1353417 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:18325467|REF_RGD_ID:2315850 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:9003566 Mesothelioma ameliorates ISO RGD:1353417 D RGD:9068941 20220818 RGD mRNA:increased expression:mesothelium (human) PMID:31964418|REF_RGD_ID:153344516 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:9003937 X Chromosome, Trisomy Xq25 ISO RGD:1353417 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Xq25 duplication syndrome 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:9004484 Sepsis ISO RGD:1353417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sepsis PMID:17080092|PMID:21119115|PMID:25666262|PMID:25741868|PMID:27747465|PMID:28492532|PMID:28936583 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1353417 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12766084 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1353417 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14998631 12309295 XIAP X-linked inhibitor of apoptosis gene DOID:9256 colorectal cancer ISO RGD:1353417 D RGD:9068941 20220825 RGD mRNA, protein:increased expression:colonic mucosa (human) PMID:27827395|REF_RGD_ID:153344527 12309330 C2CD3 C2 domain containing 3 centriole elongation regulator gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1607065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868|PMID:26092869 12309330 C2CD3 C2 domain containing 3 centriole elongation regulator gene DOID:0050777 Joubert syndrome ISO RGD:1607065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:24997988|PMID:25741868|PMID:26092869 12309330 C2CD3 C2 domain containing 3 centriole elongation regulator gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1607065 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12309330 C2CD3 C2 domain containing 3 centriole elongation regulator gene DOID:0110980 Joubert syndrome 1 ISO RGD:1607065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis PMID:24997988|PMID:25741868|PMID:26092869 12309330 C2CD3 C2 domain containing 3 centriole elongation regulator gene DOID:0110980 Joubert syndrome 1 ISO RGD:1607065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:24997988|PMID:26092869 12309330 C2CD3 C2 domain containing 3 centriole elongation regulator gene DOID:1059 intellectual disability ISO RGD:1607065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12309330 C2CD3 C2 domain containing 3 centriole elongation regulator gene DOID:4501 orofaciodigital syndrome ISO RGD:1607065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24997988 12309330 C2CD3 C2 domain containing 3 centriole elongation regulator gene DOID:630 genetic disease ISO RGD:1607065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12309330 C2CD3 C2 domain containing 3 centriole elongation regulator gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1607065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868 12309330 C2CD3 C2 domain containing 3 centriole elongation regulator gene DOID:9002841 Orofaciodigital Syndrome XIV ISO RGD:1607065 D RGD:7240710 20200122 OMIM 12309330 C2CD3 C2 domain containing 3 centriole elongation regulator gene DOID:9002841 Orofaciodigital Syndrome XIV ISO RGD:1607065 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome xiv PMID:16199547|PMID:17576681|PMID:24997988|PMID:25741868|PMID:26092869|PMID:26477546|PMID:28492532|PMID:30097616|PMID:9536098 12309330 C2CD3 C2 domain containing 3 centriole elongation regulator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12309367 RFC4 replication factor C subunit 4 gene DOID:0060575 3MC syndrome 1 ISO RGD:1320871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 12309367 RFC4 replication factor C subunit 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1320871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12309367 RFC4 replication factor C subunit 4 gene DOID:630 genetic disease ISO RGD:1320871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309367 RFC4 replication factor C subunit 4 gene DOID:9006205 Animal Disease Models ISO RGD:1320871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12309382 NABP1 nucleic acid binding protein 1 gene DOID:2377 multiple sclerosis ISO RGD:1603967 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 12309382 NABP1 nucleic acid binding protein 1 gene DOID:630 genetic disease ISO RGD:1603967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309382 NABP1 nucleic acid binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12309399 MRPL20 mitochondrial ribosomal protein L20 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12309399 MRPL20 mitochondrial ribosomal protein L20 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1319575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12309399 MRPL20 mitochondrial ribosomal protein L20 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1319575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12309399 MRPL20 mitochondrial ribosomal protein L20 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1319575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12309399 MRPL20 mitochondrial ribosomal protein L20 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1319575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12309399 MRPL20 mitochondrial ribosomal protein L20 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1319575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12309399 MRPL20 mitochondrial ribosomal protein L20 gene DOID:0111934 immunodeficiency 38 ISO RGD:1319575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12309399 MRPL20 mitochondrial ribosomal protein L20 gene DOID:0111935 immunodeficiency 16 ISO RGD:1319575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12309399 MRPL20 mitochondrial ribosomal protein L20 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12309399 MRPL20 mitochondrial ribosomal protein L20 gene DOID:630 genetic disease ISO RGD:1319575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309399 MRPL20 mitochondrial ribosomal protein L20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12309399 MRPL20 mitochondrial ribosomal protein L20 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1319575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12309399 MRPL20 mitochondrial ribosomal protein L20 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1319575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12309412 SNX29 sorting nexin 29 gene DOID:5419 schizophrenia ISO RGD:1604256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12309412 SNX29 sorting nexin 29 gene DOID:630 genetic disease ISO RGD:1604256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309435 DRP2 dystrophin related protein 2 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:732671 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type X PMID:23999528|PMID:25741868|PMID:26227883|PMID:29473052|PMID:31217940 12309435 DRP2 dystrophin related protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12309435 DRP2 dystrophin related protein 2 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:732671 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 12309435 DRP2 dystrophin related protein 2 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:732671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 12309435 DRP2 dystrophin related protein 2 gene DOID:12849 autistic disorder ISO RGD:732671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12309435 DRP2 dystrophin related protein 2 gene DOID:14499 Fabry disease ISO RGD:732671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:10666480|PMID:12175777|PMID:28492532 12309435 DRP2 dystrophin related protein 2 gene DOID:630 genetic disease ISO RGD:732671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12309435 DRP2 dystrophin related protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:732671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28492532 12309435 DRP2 dystrophin related protein 2 gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:732671 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 12309481 OR4S1 olfactory receptor family 4 subfamily S member 1 gene DOID:1059 intellectual disability ISO RGD:1348625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12309481 OR4S1 olfactory receptor family 4 subfamily S member 1 gene DOID:630 genetic disease ISO RGD:1348625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309485 SH3GL1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:13938 amenorrhea ISO RGD:1351797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12309485 SH3GL1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:3070 high grade glioma disease_progression ISO RGD:1351797 D RGD:9068941 20200609 RGD PMID:23050879|REF_RGD_ID:13463483 12309485 SH3GL1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:3070 high grade glioma disease_progression ISO RGD:708456 D RGD:9068941 20200609 RGD PMID:23050879|REF_RGD_ID:13463483 12309485 SH3GL1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:3070 high grade glioma severity ISO RGD:1351797 D RGD:9068941 20200609 RGD protein:increased expression:cytoplasm,white matter: PMID:23050879|REF_RGD_ID:13463483 12309485 SH3GL1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:630 genetic disease ISO RGD:1351797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309485 SH3GL1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:684 hepatocellular carcinoma ISO RGD:1351797 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:33838155 12309485 SH3GL1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:9119 acute myeloid leukemia ISO RGD:1351797 D RGD:7240710 20180130 OMIM 12309485 SH3GL1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:9119 acute myeloid leukemia ISO RGD:1351797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868 12309502 SH3BP5 SH3 domain binding protein 5 gene DOID:0060417 3p deletion syndrome ISO RGD:733305 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12309502 SH3BP5 SH3 domain binding protein 5 gene DOID:630 genetic disease ISO RGD:733305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309515 IL31RA interleukin 31 receptor A gene DOID:0050639 primary cutaneous amyloidosis ISO RGD:1344882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12309515 IL31RA interleukin 31 receptor A gene DOID:0080931 primary localized cutaneous amyloidosis 2 ISO RGD:1344882 D RGD:7240710 20180130 OMIM 12309515 IL31RA interleukin 31 receptor A gene DOID:0080931 primary localized cutaneous amyloidosis 2 ISO RGD:1344882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidosis, primary localized cutaneous, 2 PMID:19690585|PMID:25741868 12309515 IL31RA interleukin 31 receptor A gene DOID:630 genetic disease ISO RGD:1344882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309515 IL31RA interleukin 31 receptor A gene DOID:9000998 Brain Injuries ISO RGD:1344882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 12309515 IL31RA interleukin 31 receptor A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12309543 NTNG1 netrin G1 gene DOID:12849 autistic disorder ISO RGD:1350531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12309543 NTNG1 netrin G1 gene DOID:3312 bipolar disorder ISO RGD:1350531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17507910 12309543 NTNG1 netrin G1 gene DOID:5419 schizophrenia ISO RGD:1350531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17507910 12309543 NTNG1 netrin G1 gene DOID:630 genetic disease ISO RGD:1350531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309543 NTNG1 netrin G1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 12309557 ERAS ES cell expressed Ras gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12309557 ERAS ES cell expressed Ras gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1345319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12309557 ERAS ES cell expressed Ras gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1345319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12309557 ERAS ES cell expressed Ras gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1345319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12309557 ERAS ES cell expressed Ras gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1345319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12309557 ERAS ES cell expressed Ras gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1345319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12309557 ERAS ES cell expressed Ras gene DOID:12849 autistic disorder ISO RGD:1345319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12309557 ERAS ES cell expressed Ras gene DOID:630 genetic disease ISO RGD:1345319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309563 STAG2 STAG2 cohesin complex component gene DOID:0050908 myelodysplastic syndrome ISO RGD:1343297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27992414 12309563 STAG2 STAG2 cohesin complex component gene DOID:0060706 X-linked lymphoproliferative syndrome 2 ISO RGD:1343297 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked PMID:17080092|PMID:17989220|PMID:21119115|PMID:25666262|PMID:26581487|PMID:28492532 12309563 STAG2 STAG2 cohesin complex component gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12309563 STAG2 STAG2 cohesin complex component gene DOID:0080333 aortic valve disease 1 ISO RGD:1343297 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic valve disease 1 PMID:25741868 12309563 STAG2 STAG2 cohesin complex component gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1343297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24056718 12309563 STAG2 STAG2 cohesin complex component gene DOID:0111845 Mullegama-Klein-Martinez syndrome ISO RGD:1343297 D RGD:7240710 20190424 OMIM 12309563 STAG2 STAG2 cohesin complex component gene DOID:0111845 Mullegama-Klein-Martinez syndrome ISO RGD:1343297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mullegama-Klein-Martinez syndrome | ClinVar Annotator: match by term: STAG2-related disorder PMID:25741868|PMID:28296084|PMID:28492532|PMID:29263825|PMID:30158690|PMID:30765867|PMID:31334757|PMID:33619735 12309563 STAG2 STAG2 cohesin complex component gene DOID:11054 urinary bladder cancer ISO RGD:1343297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121789|PMID:24121791|PMID:24121792 12309563 STAG2 STAG2 cohesin complex component gene DOID:12849 autistic disorder ISO RGD:1343297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12309563 STAG2 STAG2 cohesin complex component gene DOID:2671 transitional cell carcinoma ISO RGD:1343297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121792 12309563 STAG2 STAG2 cohesin complex component gene DOID:630 genetic disease ISO RGD:1343297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12309563 STAG2 STAG2 cohesin complex component gene DOID:8692 myeloid leukemia ISO RGD:1343297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23955599 12309563 STAG2 STAG2 cohesin complex component gene DOID:9003937 X Chromosome, Trisomy Xq25 ISO RGD:1343297 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Xq25 duplication syndrome 12309563 STAG2 STAG2 cohesin complex component gene DOID:9008492 Holoprosencephaly 13 ISO RGD:1343297 D RGD:7240710 20200429 OMIM 12309563 STAG2 STAG2 cohesin complex component gene DOID:9008492 Holoprosencephaly 13 ISO RGD:1343297 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 13, X-linked | ClinVar Annotator: match by term: STAG2-related condition PMID:25741868|PMID:28296084|PMID:28492532|PMID:31334757 12309611 WDR20 WD repeat domain 20 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1315150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12309611 WDR20 WD repeat domain 20 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1315150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12309611 WDR20 WD repeat domain 20 gene DOID:630 genetic disease ISO RGD:1315150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309621 TBC1D21 TBC1 domain family member 21 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12309621 TBC1D21 TBC1 domain family member 21 gene DOID:2717 Bloom syndrome ISO RGD:1353455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12309621 TBC1D21 TBC1 domain family member 21 gene DOID:3320 Tay-Sachs disease ISO RGD:1353455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 12309621 TBC1D21 TBC1 domain family member 21 gene DOID:5419 schizophrenia ISO RGD:1353455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12309621 TBC1D21 TBC1 domain family member 21 gene DOID:630 genetic disease ISO RGD:1353455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309621 TBC1D21 TBC1 domain family member 21 gene DOID:9256 colorectal cancer ISO RGD:1353455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12309640 ST6GALNAC5 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 gene DOID:630 genetic disease ISO RGD:1352256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309640 ST6GALNAC5 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 gene DOID:7148 rheumatoid arthritis ISO RGD:1352256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860|PMID:17568789 12309656 DSC3 desmocollin 3 gene DOID:1059 intellectual disability ISO RGD:1323416 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12309656 DSC3 desmocollin 3 gene DOID:630 genetic disease ISO RGD:1323416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309656 DSC3 desmocollin 3 gene DOID:9000225 Hypotrichosis and Recurrent Skin Vesicles ISO RGD:1323416 D RGD:7240710 20180130 OMIM 12309656 DSC3 desmocollin 3 gene DOID:9000225 Hypotrichosis and Recurrent Skin Vesicles ISO RGD:1323416 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypotrichosis and recurrent skin vesicles PMID:19765682|PMID:25741868|PMID:31790667 12309656 DSC3 desmocollin 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1323416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16799634 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0050770 polycystic liver disease ISO RGD:1318266 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16876319|PMID:19176689|PMID:19914852|PMID:19940839|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21274727|PMID:22415584|PMID:24162162|PMID:24984783|PMID:25124979|PMID:25193386|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26489027|PMID:26489029|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492532|PMID:28578020|PMID:28862642|PMID:29801666|PMID:30275481|PMID:30507656|PMID:30650191|PMID:30773290|PMID:31130284|PMID:31589614|PMID:31738409|PMID:31844813|PMID:31980526|PMID:32359821|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:33112055|PMID:33123899|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33845788|PMID:33940108 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0050876 Caroli disease ISO RGD:1318266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Caroli disease PMID:1189128|PMID:11898128|PMID:12846734|PMID:12874454|PMID:15108277|PMID:15108281|PMID:15698423|PMID:15805161|PMID:16133180|PMID:19914852|PMID:20413436|PMID:21228398|PMID:25701400|PMID:25741868|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27894351|PMID:28492530|PMID:28492532|PMID:30343465|PMID:30773290|PMID:31130284|PMID:31844813|PMID:31980526|PMID:32359821|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0080212 polycystic kidney disease 4 ISO RGD:1318266 D RGD:7240710 20180523 OMIM 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0080212 polycystic kidney disease 4 ISO RGD:1318266 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I | ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:12925574|PMID:14741187|PMID:14971004|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16199547|PMID:16523049|PMID:16632497|PMID:16876319|PMID:17576681|PMID:18414213|PMID:18503009|PMID:19021639|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21274727|PMID:21493627|PMID:22034641|PMID:22415584|PMID:22882926|PMID:23389334|PMID:23582048|PMID:24033266|PMID:24162162|PMID:24710345|PMID:24984783|PMID:25034658|PMID:25114813|PMID:25124979|PMID:25153916|PMID:25193386|PMID:25525159|PMID:25589618|PMID:25646624|PMID:25701400|PMID:25741868|PMID:25741895|PMID:25771912|PMID:25966130|PMID:26139440|PMID:26385851|PMID:26489027|PMID:26489029|PMID:26633542|PMID:26673778|PMID:26695994|PMID:26721323|PMID:26862157|PMID:27151922|PMID:27225849|PMID:27491411|PMID:27577217|PMID:27595491|PMID:27752906|PMID:27894351|PMID:28166811|PMID:28170084|PMID:28364132|PMID:28375157|PMID:28492532|PMID:28578020|PMID:28851938|PMID:28862642|PMID:28933340|PMID:29095814|PMID:29520754|PMID:29643536|PMID:29801666|PMID:29947050|PMID:29956005|PMID:30275481|PMID:30343465|PMID:30507656|PMID:30586318|PMID:30595564|PMID:30650191|PMID:30655312|PMID:30773290|PMID:30787879|PMID:31010483|PMID:31130284|PMID:31395954|PMID:31589614|PMID:31730820|PMID:31738409|PMID:31813136|PMID:31844813|PMID:31938409|PMID:31980526|PMID:32203225|PMID:32256442|PMID:32359821|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32576985|PMID:32799815|PMID:32901917|PMID:32939031|PMID:33059727|PMID:33112055|PMID:33123899|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33569422|PMID:33716212|PMID:33845788|PMID:33940108|PMID:34008892|PMID:34032358|PMID:34536170|PMID:35627109|PMID:35812281|PMID:9536098 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0080322 polycystic kidney disease ISO RGD:1318266 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16632497|PMID:16876319|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:21228398|PMID:21274727|PMID:21790888|PMID:22882926|PMID:23041322|PMID:23582048|PMID:23757202|PMID:24033266|PMID:24162162|PMID:25124979|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28862642|PMID:29801666|PMID:29956005|PMID:30343465|PMID:30773290|PMID:31130284|PMID:31813136|PMID:31844813|PMID:31980526|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:33112055|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33940108|PMID:34008892 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0080322 polycystic kidney disease ISO RGD:1318266 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16632497|PMID:16876319|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:21228398|PMID:21274727|PMID:21790888|PMID:22882926|PMID:23041322|PMID:23582048|PMID:23757202|PMID:24033266|PMID:24162162|PMID:25124979|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28862642|PMID:29801666|PMID:29956005|PMID:30343465|PMID:30773290|PMID:31130284|PMID:31395954|PMID:31813136|PMID:31844813|PMID:31980526|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:33112055|PMID:33123899|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33940108|PMID:34008892 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1318266 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:12925574|PMID:14741187|PMID:14971004|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16199547|PMID:16523049|PMID:16632497|PMID:16876319|PMID:17576681|PMID:18414213|PMID:18503009|PMID:19021639|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:20460933|PMID:20575693|PMID:21228398|PMID:21274727|PMID:21493627|PMID:21790888|PMID:21945273|PMID:22034641|PMID:22415584|PMID:22882926|PMID:22995991|PMID:23041322|PMID:23265383|PMID:23389334|PMID:23582048|PMID:23757202|PMID:24009235|PMID:24033266|PMID:24121792|PMID:24162162|PMID:24710345|PMID:24984783|PMID:25114813|PMID:25124979|PMID:25153916|PMID:25193386|PMID:25525159|PMID:25589618|PMID:25640679|PMID:25646624|PMID:25701400|PMID:25741868|PMID:25741880|PMID:25741895|PMID:25741913|PMID:25771912|PMID:25966130|PMID:26139440|PMID:26385851|PMID:26489027|PMID:26489029|PMID:26633542|PMID:26673778|PMID:26695994|PMID:26721323|PMID:27151922|PMID:27225849|PMID:27491411|PMID:27577217|PMID:27595491|PMID:27752906|PMID:27894351|PMID:28170084|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28578020|PMID:28851938|PMID:28862642|PMID:28933340|PMID:29095814|PMID:29520754|PMID:29643536|PMID:29801666|PMID:29956005|PMID:30260789|PMID:30275481|PMID:30343465|PMID:30366773|PMID:30507656|PMID:30566001|PMID:30595564|PMID:30650191|PMID:30655312|PMID:30773290|PMID:30787879|PMID:31130284|PMID:31395954|PMID:31730820|PMID:31738409|PMID:31813136|PMID:31844813|PMID:31938409|PMID:31980526|PMID:32203225|PMID:32256442|PMID:32359821|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32576985|PMID:32799815|PMID:32939031|PMID:33059616|PMID:33112055|PMID:33123899|PMID:33226606|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33569422|PMID:33716212|PMID:33845788|PMID:33940108|PMID:34008892|PMID:34426522|PMID:9536098 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1318266 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:12925574|PMID:14741187|PMID:14971004|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16199547|PMID:16523049|PMID:16632497|PMID:16876319|PMID:17576681|PMID:18414213|PMID:18503009|PMID:19021639|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:20460933|PMID:20575693|PMID:21228398|PMID:21274727|PMID:21493627|PMID:21790888|PMID:21945273|PMID:22034641|PMID:22415584|PMID:22882926|PMID:22995991|PMID:23041322|PMID:23265383|PMID:23389334|PMID:23582048|PMID:23757202|PMID:24009235|PMID:24033266|PMID:24121792|PMID:24162162|PMID:24710345|PMID:24984783|PMID:25034658|PMID:25114813|PMID:25124979|PMID:25153916|PMID:25193386|PMID:25525159|PMID:25589618|PMID:25640679|PMID:25646624|PMID:25701400|PMID:25741868|PMID:25741880|PMID:25741895|PMID:25741913|PMID:25771912|PMID:25966130|PMID:26139440|PMID:26385851|PMID:26489027|PMID:26489029|PMID:26633542|PMID:26673778|PMID:26695994|PMID:26721323|PMID:27151922|PMID:27225849|PMID:27491411|PMID:27577217|PMID:27595491|PMID:27752906|PMID:27894351|PMID:28166811|PMID:28170084|PMID:28364132|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28578020|PMID:28851938|PMID:28862642|PMID:28933340|PMID:29095814|PMID:29520754|PMID:29643536|PMID:29801666|PMID:29947050|PMID:29956005|PMID:30017326|PMID:30260789|PMID:30275481|PMID:30343465|PMID:30366773|PMID:30507656|PMID:30566001|PMID:30586318|PMID:30595564|PMID:30650191|PMID:30655312|PMID:30773290|PMID:30787879|PMID:31010483|PMID:31130284|PMID:31395954|PMID:31589614|PMID:31624253|PMID:31730820|PMID:31738409|PMID:31813136|PMID:31844813|PMID:31938409|PMID:31980526|PMID:32203225|PMID:32256442|PMID:32359821|PMID:32384486|PMID:3239877|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32576985|PMID:32799815|PMID:32939031|PMID:33059616|PMID:33059727|PMID:33112055|PMID:33123899|PMID:33226606|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33569422|PMID:33716212|PMID:33845788|PMID:33940108|PMID:34008892|PMID:34032358|PMID:34405919|PMID:34426522|PMID:34536170|PMID:35627109|PMID:35812281|PMID:9536098 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0110861 autosomal recessive polycystic kidney disease severity ISO RGD:1318266 D RGD:9068941 20200609 RGD DNA:missense mutations:cds: PMID:12874454|REF_RGD_ID:11062506 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0110861 autosomal recessive polycystic kidney disease susceptibility ISO RGD:1308476 D RGD:9068941 20200609 RGD DNA:splice site mutation:intron:IVS35-2A>T PMID:11919560|REF_RGD_ID:70439 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0110861 autosomal recessive polycystic kidney disease susceptibility ISO RGD:1318266 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutations: :multiple PMID:11919560|REF_RGD_ID:70439 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:10283 prostate cancer ISO RGD:1318266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:12215 oligohydramnios ISO RGD:1318266 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Oligohydramnios | ClinVar Annotator: match by term: anhydramnios PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:19914852|PMID:20413436|PMID:21274727|PMID:25124979|PMID:25741868|PMID:26695994|PMID:27225849|PMID:28375157|PMID:28492532|PMID:30773290|PMID:32799815|PMID:33532864|PMID:35005812 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:219 colon cancer ISO RGD:1318266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:12846734|PMID:14741187|PMID:15805161|PMID:21493627|PMID:25646624|PMID:25701400|PMID:25741868|PMID:28492532|PMID:33532864|PMID:33716212 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:2975 cystic kidney disease ISO RGD:1318266 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal cyst PMID:25741868|PMID:27225849|PMID:28492532 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:5082 liver cirrhosis ISO RGD:1318267 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:17519956|REF_RGD_ID:14700917 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:557 kidney disease ISO RGD:1318266 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:19914852|PMID:19940839|PMID:20413436|PMID:21274727|PMID:25124979|PMID:25741868|PMID:26695994|PMID:27225849|PMID:28375157|PMID:28492532|PMID:30773290|PMID:32799815|PMID:33532864 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:630 genetic disease ISO RGD:1318266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11919560|PMID:15698423|PMID:15805161|PMID:19914852|PMID:20413436|PMID:23041322|PMID:25741868|PMID:26695994|PMID:28492532|PMID:29956005|PMID:31395954 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1318266 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16876319|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21274727|PMID:22415584|PMID:24162162|PMID:24710345|PMID:24984783|PMID:25124979|PMID:25193386|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26489027|PMID:26489029|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492532|PMID:28578020|PMID:28862642|PMID:29801666|PMID:29956005|PMID:30275481|PMID:30507656|PMID:30650191|PMID:30773290|PMID:31130284|PMID:31589614|PMID:31738409|PMID:31844813|PMID:31980526|PMID:32359821|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:33112055|PMID:33123899|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33845788|PMID:33940108 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:899 choledochal cyst ISO RGD:1318266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:899 choledochal cyst ISO RGD:1318267 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:15830394|REF_RGD_ID:14700991 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1318266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16876319|PMID:19176689|PMID:19914852|PMID:19940839|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21274727|PMID:22415584|PMID:24162162|PMID:24984783|PMID:25124979|PMID:25193386|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26489027|PMID:26489029|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492532|PMID:28578020|PMID:28862642|PMID:29801666|PMID:30275481|PMID:30507656|PMID:30650191|PMID:30773290|PMID:31130284|PMID:31589614|PMID:31738409|PMID:31844813|PMID:31980526|PMID:32359821|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:33112055|PMID:33123899|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33845788|PMID:33940108 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9002851 Medullary Sponge Kidney ISO RGD:1318267 D RGD:9068941 20200609 RGD PMID:30600684|REF_RGD_ID:14700919 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9005318 Isolated Caroli Disease ISO RGD:1318266 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cystic dilatation of the intrahepatic biliary tree PMID:1189128|PMID:11898128|PMID:12874454|PMID:15698423|PMID:15805161|PMID:16133180|PMID:19914852|PMID:25741868|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27894351|PMID:28492532|PMID:31130284|PMID:31844813|PMID:31980526|PMID:32359821|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9006554 Pancreatic Cyst ISO RGD:1318267 D RGD:9068941 20200609 RGD PMID:18202188|REF_RGD_ID:14700921 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9006554 Pancreatic Cyst ISO RGD:1318267 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:17519956|REF_RGD_ID:14700917 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9006697 Congenital Hepatic Fibrosis ISO RGD:1318266 D RGD:9068941 20200609 RGD DNA:mutations:cds:c.7994T>C, p.(Leu2665Pro),c.8518C>T, p.(Arg2840Cys)(human) PMID:30507656|REF_RGD_ID:14700992 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9006697 Congenital Hepatic Fibrosis ISO RGD:1318267 D RGD:9068941 20200609 RGD PMID:30600684|REF_RGD_ID:14700919 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9007479 Habitual Abortions ISO RGD:1318266 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9263 homocystinuria ISO RGD:1318266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CBS deficiency PMID:25741868 12309722 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9446 cholangitis ISO RGD:1318267 D RGD:9068941 20200609 RGD PMID:29158418|REF_RGD_ID:14700923 12309802 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:0080237 autosomal dominant intellectual developmental disorder 46 ISO RGD:1351630 D RGD:7240710 20190315 OMIM 12309802 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:0080237 autosomal dominant intellectual developmental disorder 46 ISO RGD:1351630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 46 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 PMID:25741868|PMID:28492532|PMID:28669405 12309802 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:10283 prostate cancer ISO RGD:1351630 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 12309802 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:1059 intellectual disability ISO RGD:1351630 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 12309802 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:11830 myopia ISO RGD:1351630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 12309802 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:1826 epilepsy ISO RGD:1351630 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12309802 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:3659 sialuria ISO RGD:1351630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 12309802 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1351630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28189443 12309802 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:630 genetic disease ISO RGD:1351630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18004376|PMID:25741868|PMID:25741879|PMID:27602407|PMID:28492532|PMID:28669405 12309802 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1351630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741879 12309823 UROD uroporphyrinogen decarboxylase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12309823 UROD uroporphyrinogen decarboxylase gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1351123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:28492532 12309823 UROD uroporphyrinogen decarboxylase gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1351123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12309823 UROD uroporphyrinogen decarboxylase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12309823 UROD uroporphyrinogen decarboxylase gene DOID:13268 porphyria severity ISO RGD:3946 D RGD:9068941 20200609 RGD PMID:3596746|REF_RGD_ID:21081511 12309823 UROD uroporphyrinogen decarboxylase gene DOID:1612 breast cancer ISO RGD:1351123 D RGD:9068941 20200609 RGD protein:increased activity:tumor:in tissue explant cultures of breast cancers and corresponding normal breast tissue PMID:2276414|REF_RGD_ID:2301374 12309823 UROD uroporphyrinogen decarboxylase gene DOID:3132 porphyria cutanea tarda ISO RGD:1351123 D RGD:7240710 20180130 OMIM 12309823 UROD uroporphyrinogen decarboxylase gene DOID:3132 porphyria cutanea tarda ISO RGD:1351123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial porphyria cutanea tarda | ClinVar Annotator: match by term: Porphyria cutanea tarda | ClinVar Annotator: match by term: UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY PMID:11069625|PMID:11295834|PMID:11719352|PMID:15186324|PMID:16199547|PMID:1634232|PMID:17240319|PMID:17576681|PMID:19233912|PMID:19419417|PMID:19656450|PMID:22382040|PMID:2243121|PMID:23545314|PMID:24777812|PMID:25741868|PMID:28492532|PMID:2892774|PMID:2920211|PMID:3775362|PMID:7706766|PMID:8644733|PMID:8896428|PMID:9536098|PMID:9792863 12309823 UROD uroporphyrinogen decarboxylase gene DOID:5230 hepatoerythropoietic porphyria ISO RGD:1351123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatoerythropoietic porphyria PMID:10980536|PMID:1634232|PMID:1905636|PMID:23545314|PMID:25741868|PMID:28492532|PMID:2892774|PMID:2920211|PMID:3775362|PMID:7706766|PMID:8644733 12309823 UROD uroporphyrinogen decarboxylase gene DOID:630 genetic disease ISO RGD:1351123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309823 UROD uroporphyrinogen decarboxylase gene DOID:9005584 Hepatic Porphyrias ISO RGD:3946 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:6721832|REF_RGD_ID:4144806 12309823 UROD uroporphyrinogen decarboxylase gene DOID:9005584 Hepatic Porphyrias ISO RGD:735366 D RGD:9068941 20200609 RGD protein:decreased activity:liver (mouse) PMID:3271868|REF_RGD_ID:4145290 12309823 UROD uroporphyrinogen decarboxylase gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1351123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21270338 12309823 UROD uroporphyrinogen decarboxylase gene DOID:9009031 Porphyria Cutanea Tarda, Type I ISO RGD:1351123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Porphyria cutanea tarda, type I PMID:25741868|PMID:28492532|PMID:8644733 12309842 ANO3 anoctamin 3 gene DOID:0090052 dystonia 24 ISO RGD:1318896 D RGD:7240710 20180130 OMIM 12309842 ANO3 anoctamin 3 gene DOID:0090052 dystonia 24 ISO RGD:1318896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia 24 PMID:11009204|PMID:23200863|PMID:25741868|PMID:27666935|PMID:28492532|PMID:33388357 12309842 ANO3 anoctamin 3 gene DOID:1059 intellectual disability ISO RGD:1318896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12309842 ANO3 anoctamin 3 gene DOID:543 dystonia ISO RGD:1318896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:16199547|PMID:17576681|PMID:25741868|PMID:27666935|PMID:28492532|PMID:29449182|PMID:30502610|PMID:31053532|PMID:9536098 12309842 ANO3 anoctamin 3 gene DOID:630 genetic disease ISO RGD:1318896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12309842 ANO3 anoctamin 3 gene DOID:9002211 Hyperalgesia ISO RGD:1308873 D RGD:9068941 20200609 RGD PMID:23872594|REF_RGD_ID:9681745 12309842 ANO3 anoctamin 3 gene DOID:9007956 Febrile Seizures ISO RGD:1318896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25344690 12309873 TSC22D1 TSC22 domain family member 1 gene DOID:305 carcinoma ISO RGD:1604401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12309873 TSC22D1 TSC22 domain family member 1 gene DOID:630 genetic disease ISO RGD:1604401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309873 TSC22D1 TSC22 domain family member 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1604401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12309873 TSC22D1 TSC22 domain family member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12309873 TSC22D1 TSC22 domain family member 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1604401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15833021|PMID:17533171 12309873 TSC22D1 TSC22 domain family member 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1604401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12309873 TSC22D1 TSC22 domain family member 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1604401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15089088 12309895 RFC5 replication factor C subunit 5 gene DOID:630 genetic disease ISO RGD:1319540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309927 ZMAT5 zinc finger matrin-type 5 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1607019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 12309927 ZMAT5 zinc finger matrin-type 5 gene DOID:630 genetic disease ISO RGD:1607019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309927 ZMAT5 zinc finger matrin-type 5 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1607019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:21876083|PMID:24713400|PMID:28492532 12309940 TGS1 trimethylguanosine synthase 1 gene DOID:630 genetic disease ISO RGD:1320573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12309957 FMN1 formin 1 gene DOID:630 genetic disease ISO RGD:1606398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12310000 CKMT2 creatine kinase, mitochondrial 2 gene DOID:630 genetic disease ISO RGD:1343148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310000 CKMT2 creatine kinase, mitochondrial 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12310019 HECTD1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1350415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 12310019 HECTD1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1350415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310019 HECTD1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350415 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12310066 SSTR3 somatostatin receptor 3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1343520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12310066 SSTR3 somatostatin receptor 3 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1343520 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12310066 SSTR3 somatostatin receptor 3 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1343520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12310066 SSTR3 somatostatin receptor 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12310066 SSTR3 somatostatin receptor 3 gene DOID:169 neuroendocrine tumor ISO RGD:1343520 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17625444 12310066 SSTR3 somatostatin receptor 3 gene DOID:1793 pancreatic cancer ISO RGD:1343520 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17625444 12310066 SSTR3 somatostatin receptor 3 gene DOID:1824 status epilepticus ISO RGD:1343520 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18951627 12310066 SSTR3 somatostatin receptor 3 gene DOID:630 genetic disease ISO RGD:1343520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310066 SSTR3 somatostatin receptor 3 gene DOID:9000998 Brain Injuries ISO RGD:620308 D RGD:9068941 20200609 RGD PMID:11879809|REF_RGD_ID:2325002 12310066 SSTR3 somatostatin receptor 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620308 D RGD:9068941 20200609 RGD PMID:7956902|REF_RGD_ID:2325008 12310074 TRMT10B tRNA methyltransferase 10B gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1321812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12310074 TRMT10B tRNA methyltransferase 10B gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1321812 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12310074 TRMT10B tRNA methyltransferase 10B gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1321812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12310074 TRMT10B tRNA methyltransferase 10B gene DOID:630 genetic disease ISO RGD:1321812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310074 TRMT10B tRNA methyltransferase 10B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12310074 TRMT10B tRNA methyltransferase 10B gene DOID:9870 galactosemia ISO RGD:1321812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12310096 PGAP4 post-GPI attachment to proteins GalNAc transferase 4 gene DOID:1059 intellectual disability ISO RGD:1316281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12310096 PGAP4 post-GPI attachment to proteins GalNAc transferase 4 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:1316281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 12310096 PGAP4 post-GPI attachment to proteins GalNAc transferase 4 gene DOID:630 genetic disease ISO RGD:1316281 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310096 PGAP4 post-GPI attachment to proteins GalNAc transferase 4 gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:1316281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532 12310114 IL17F interleukin 17F gene DOID:630 genetic disease ISO RGD:1322840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12310114 IL17F interleukin 17F gene DOID:9002129 Candidiasis, Familial, 6 ISO RGD:1322840 D RGD:7240710 20180130 OMIM 12310114 IL17F interleukin 17F gene DOID:9002129 Candidiasis, Familial, 6 ISO RGD:1322840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 6 PMID:17576681|PMID:21350122|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30290665|PMID:32185379|PMID:9536098 12310120 HMGCLL1 3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1 gene DOID:630 genetic disease ISO RGD:1352812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310144 BTC betacellulin gene DOID:10754 otitis media ISO RGD:620275 D RGD:9068941 20200609 RGD mRNA:decreased expression:middle ear PMID:12148846|REF_RGD_ID:2306978 12310144 BTC betacellulin gene DOID:13270 erythropoietic protoporphyria ISO RGD:736353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19267999 12310144 BTC betacellulin gene DOID:3892 insulinoma ISO RGD:736353 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:10724350|REF_RGD_ID:2326087 12310144 BTC betacellulin gene DOID:630 genetic disease ISO RGD:736353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310144 BTC betacellulin gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:736353 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12310144 BTC betacellulin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733574 D RGD:9068941 20200609 RGD PMID:19819964|REF_RGD_ID:2313774 12310144 BTC betacellulin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736353 D RGD:9068941 20200609 RGD PMID:14988244|PMID:18388935|REF_RGD_ID:1357906|REF_RGD_ID:2306965 12310144 BTC betacellulin gene DOID:9007821 Glucagonoma ISO RGD:736353 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:10724350|REF_RGD_ID:2326087 12310144 BTC betacellulin gene DOID:9352 type 2 diabetes mellitus ISO RGD:736353 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-226A/G (human) PMID:16306376|REF_RGD_ID:2306967 12310144 BTC betacellulin gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:736353 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.C7G (human) PMID:15793259|REF_RGD_ID:2306973 12310144 BTC betacellulin gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:736353 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:IVS4-4C>T (human) PMID:16683131|REF_RGD_ID:2306966 12310162 ANO9 anoctamin 9 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12310162 ANO9 anoctamin 9 gene DOID:0111969 immunodeficiency 39 ISO RGD:1345920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12310162 ANO9 anoctamin 9 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12310162 ANO9 anoctamin 9 gene DOID:10283 prostate cancer ISO RGD:1345920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12310162 ANO9 anoctamin 9 gene DOID:630 genetic disease ISO RGD:1345920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310193 SLC3A2 solute carrier family 3 member 2 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:735716 D RGD:9068941 20220225 RGD PMID:24762957|REF_RGD_ID:151361157 12310193 SLC3A2 solute carrier family 3 member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:735716 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12310193 SLC3A2 solute carrier family 3 member 2 gene DOID:0080202 adenoid cystic carcinoma disease_progression ISO RGD:735716 D RGD:9068941 20220303 RGD PMID:23516127|REF_RGD_ID:151361211 12310193 SLC3A2 solute carrier family 3 member 2 gene DOID:0080899 lung pleomorphic carcinoma disease_progression ISO RGD:735716 D RGD:9068941 20220303 RGD PMID:30300664|REF_RGD_ID:151361288 12310193 SLC3A2 solute carrier family 3 member 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12310193 SLC3A2 solute carrier family 3 member 2 gene DOID:10534 stomach cancer ISO RGD:735716 D RGD:9068941 20220623 RGD protein:increased expression:stomach (human) PMID:23116296|REF_RGD_ID:152995461 12310193 SLC3A2 solute carrier family 3 member 2 gene DOID:1059 intellectual disability ISO RGD:735716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12310193 SLC3A2 solute carrier family 3 member 2 gene DOID:2671 transitional cell carcinoma ISO RGD:3073 D RGD:9068941 20220224 RGD protein:increased expression:bladder PMID:28339760|REF_RGD_ID:151361118 12310193 SLC3A2 solute carrier family 3 member 2 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735716 D RGD:9068941 20220303 RGD PMID:22110199|REF_RGD_ID:151361206 12310193 SLC3A2 solute carrier family 3 member 2 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:735716 D RGD:9068941 20220623 RGD DNA:SNP:5'utr: (rs105929) (human) PMID:24782339|REF_RGD_ID:152995443 12310193 SLC3A2 solute carrier family 3 member 2 gene DOID:3908 lung non-small cell carcinoma sexual_dimorphism ISO RGD:735716 D RGD:9068941 20220623 RGD protein:increased expression:lung (human) PMID:25084765|REF_RGD_ID:152995442 12310193 SLC3A2 solute carrier family 3 member 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:735716 D RGD:9068941 20220225 RGD PMID:19171406|REF_RGD_ID:151361151 12310193 SLC3A2 solute carrier family 3 member 2 gene DOID:5517 stomach carcinoma disease_progression ISO RGD:735716 D RGD:9068941 20220623 RGD mRNA:increased expression:stomach (human) PMID:29179459|REF_RGD_ID:152995459 12310193 SLC3A2 solute carrier family 3 member 2 gene DOID:630 genetic disease ISO RGD:735716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310193 SLC3A2 solute carrier family 3 member 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735716 D RGD:9068941 20220303 RGD PMID:19018776|REF_RGD_ID:151361278 12310193 SLC3A2 solute carrier family 3 member 2 gene DOID:9005172 Lung Neoplasms ISO RGD:735716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26621329 12310193 SLC3A2 solute carrier family 3 member 2 gene DOID:9006618 Liver Metastasis severity ISO RGD:3073 D RGD:9068941 20220224 RGD associated with colon adenocarcinoma PMID:11745822|REF_RGD_ID:151361130 12310206 KCNN4 potassium calcium-activated channel subfamily N member 4 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:732698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12310206 KCNN4 potassium calcium-activated channel subfamily N member 4 gene DOID:0111575 dehydrated hereditary stomatocytosis ISO RGD:732698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12310206 KCNN4 potassium calcium-activated channel subfamily N member 4 gene DOID:0111576 dehydrated hereditary stomatocytosis 1 ISO RGD:732698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema PMID:25741868 12310206 KCNN4 potassium calcium-activated channel subfamily N member 4 gene DOID:0111577 dehydrated hereditary stomatocytosis 2 ISO RGD:732698 D RGD:7240710 20180130 OMIM 12310206 KCNN4 potassium calcium-activated channel subfamily N member 4 gene DOID:0111577 dehydrated hereditary stomatocytosis 2 ISO RGD:732698 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 2 PMID:25741868|PMID:26148990|PMID:26178367|PMID:26198474|PMID:28492532|PMID:4851153|PMID:6473461|PMID:652816|PMID:687829 12310206 KCNN4 potassium calcium-activated channel subfamily N member 4 gene DOID:5419 schizophrenia ISO RGD:732698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12310206 KCNN4 potassium calcium-activated channel subfamily N member 4 gene DOID:630 genetic disease ISO RGD:732698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310206 KCNN4 potassium calcium-activated channel subfamily N member 4 gene DOID:9002457 Experimental Arthritis ameliorates ISO RGD:732699 D RGD:9068941 20211112 RGD PMID:25131209|REF_RGD_ID:150521609 12310206 KCNN4 potassium calcium-activated channel subfamily N member 4 gene DOID:9004927 Stomatocytosis II ISO RGD:732698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stomatocytosis II PMID:25741868 12310206 KCNN4 potassium calcium-activated channel subfamily N member 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621476 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta, smooth muscle PMID:24589593|REF_RGD_ID:10412030 12310222 ZNF574 zinc finger protein 574 gene DOID:0050888 syndromic intellectual disability ISO RGD:1322875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 12310222 ZNF574 zinc finger protein 574 gene DOID:0080600 COVID-19 ISO RGD:1322875 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12310222 ZNF574 zinc finger protein 574 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1322875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12310222 ZNF574 zinc finger protein 574 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1322875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12310222 ZNF574 zinc finger protein 574 gene DOID:2340 craniosynostosis ISO RGD:1322875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:28492532 12310222 ZNF574 zinc finger protein 574 gene DOID:5419 schizophrenia ISO RGD:1322875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12310222 ZNF574 zinc finger protein 574 gene DOID:630 genetic disease ISO RGD:1322875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310222 ZNF574 zinc finger protein 574 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1322875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12310222 ZNF574 zinc finger protein 574 gene DOID:9269 maple syrup urine disease ISO RGD:1322875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12310231 OR1AB3 olfactory receptor family 1 subfamily AB member 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1348262 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12310231 OR1AB3 olfactory receptor family 1 subfamily AB member 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1348262 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 12310231 OR1AB3 olfactory receptor family 1 subfamily AB member 3 gene DOID:1826 epilepsy ISO RGD:1348262 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12310231 OR1AB3 olfactory receptor family 1 subfamily AB member 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1348262 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12310231 OR1AB3 olfactory receptor family 1 subfamily AB member 3 gene DOID:630 genetic disease ISO RGD:1348262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310234 UBXN6 UBX domain protein 6 gene DOID:13938 amenorrhea ISO RGD:1347744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12310234 UBXN6 UBX domain protein 6 gene DOID:630 genetic disease ISO RGD:1347744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310247 WASHC1 WASH complex subunit 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1626557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12310247 WASHC1 WASH complex subunit 1 gene DOID:5419 schizophrenia ISO RGD:1626557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12310247 WASHC1 WASH complex subunit 1 gene DOID:630 genetic disease ISO RGD:1626557 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310262 TOX thymocyte selection associated high mobility group box gene DOID:630 genetic disease ISO RGD:1605410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310285 TMCO4 transmembrane and coiled-coil domains 4 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1606122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12310285 TMCO4 transmembrane and coiled-coil domains 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606122 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12310285 TMCO4 transmembrane and coiled-coil domains 4 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1606122 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12310285 TMCO4 transmembrane and coiled-coil domains 4 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1606122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12310285 TMCO4 transmembrane and coiled-coil domains 4 gene DOID:630 genetic disease ISO RGD:1606122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310285 TMCO4 transmembrane and coiled-coil domains 4 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1606122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12310308 ZC3H12C zinc finger CCCH-type containing 12C gene DOID:0110034 X-linked Alport syndrome ISO RGD:1602083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome PMID:25741868 12310308 ZC3H12C zinc finger CCCH-type containing 12C gene DOID:1059 intellectual disability ISO RGD:1602083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12310308 ZC3H12C zinc finger CCCH-type containing 12C gene DOID:12704 ataxia telangiectasia ISO RGD:1602083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12310308 ZC3H12C zinc finger CCCH-type containing 12C gene DOID:630 genetic disease ISO RGD:1602083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310308 ZC3H12C zinc finger CCCH-type containing 12C gene DOID:8893 psoriasis ISO RGD:1602083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143594 12310308 ZC3H12C zinc finger CCCH-type containing 12C gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1602083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12310328 ZNF281 zinc finger protein 281 gene DOID:1540 parathyroid carcinoma ISO RGD:1312996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12310328 ZNF281 zinc finger protein 281 gene DOID:630 genetic disease ISO RGD:1312996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310328 ZNF281 zinc finger protein 281 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12310336 MAPRE2 microtubule associated protein RP/EB family member 2 gene DOID:0112243 congenital symmetric circumferential skin creases 2 ISO RGD:1344538 D RGD:7240710 20180130 OMIM 12310336 MAPRE2 microtubule associated protein RP/EB family member 2 gene DOID:0112243 congenital symmetric circumferential skin creases 2 ISO RGD:1344538 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Skin creases, congenital symmetric circumferential, 2 PMID:19182162|PMID:21262397|PMID:25741868|PMID:26637975|PMID:31903734 12310336 MAPRE2 microtubule associated protein RP/EB family member 2 gene DOID:1059 intellectual disability ISO RGD:1344538 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12310336 MAPRE2 microtubule associated protein RP/EB family member 2 gene DOID:630 genetic disease ISO RGD:1344538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25954003|PMID:27618451|PMID:28490743 12310336 MAPRE2 microtubule associated protein RP/EB family member 2 gene DOID:9008582 Developmental Disease ISO RGD:1344538 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:26637975 12310355 PROSER2 proline and serine rich 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1351835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12310355 PROSER2 proline and serine rich 2 gene DOID:630 genetic disease ISO RGD:1351835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310374 THEM6 thioesterase superfamily member 6 gene DOID:630 genetic disease ISO RGD:1602485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310380 ETFA electron transfer flavoprotein subunit alpha gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1342675 D RGD:7240710 20180130 OMIM 12310380 ETFA electron transfer flavoprotein subunit alpha gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1342675 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ETFA deficiency | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:12486872|PMID:12815589|PMID:1430199|PMID:16199547|PMID:16510302|PMID:16546179|PMID:17576681|PMID:18289905|PMID:1882842|PMID:20674745|PMID:20736750|PMID:23785301|PMID:23867278|PMID:25741868|PMID:26409463|PMID:28492532|PMID:29096039|PMID:30510944|PMID:31268564|PMID:33450351|PMID:33768790|PMID:9334218|PMID:9536098 12310380 ETFA electron transfer flavoprotein subunit alpha gene DOID:2717 Bloom syndrome ISO RGD:1342675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12310380 ETFA electron transfer flavoprotein subunit alpha gene DOID:5419 schizophrenia ISO RGD:1342675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12310380 ETFA electron transfer flavoprotein subunit alpha gene DOID:630 genetic disease ISO RGD:1342675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16510302|PMID:23785301|PMID:28492532 12310380 ETFA electron transfer flavoprotein subunit alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1342675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12310380 ETFA electron transfer flavoprotein subunit alpha gene DOID:8398 osteoarthritis ISO RGD:1342675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12310380 ETFA electron transfer flavoprotein subunit alpha gene DOID:9001253 Glutaric Aciduria 2 ISO RGD:1342675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glutaric acidemia type 2A PMID:16510302|PMID:17576681|PMID:18289905|PMID:23785301|PMID:25741868|PMID:28492532|PMID:29096039|PMID:31268564|PMID:9536098 12310380 ETFA electron transfer flavoprotein subunit alpha gene DOID:9256 colorectal cancer ISO RGD:1342675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12310402 ELAVL1 ELAV like RNA binding protein 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1318543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12310402 ELAVL1 ELAV like RNA binding protein 1 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1318543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 12310402 ELAVL1 ELAV like RNA binding protein 1 gene DOID:12849 autistic disorder ISO RGD:1318543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12310402 ELAVL1 ELAV like RNA binding protein 1 gene DOID:289 endometriosis ISO RGD:1318543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20889954 12310402 ELAVL1 ELAV like RNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1318543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310411 GATD3 glutamine amidotransferase class 1 domain containing 3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1343023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 12310411 GATD3 glutamine amidotransferase class 1 domain containing 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:1343023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12310411 GATD3 glutamine amidotransferase class 1 domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1343023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12310411 GATD3 glutamine amidotransferase class 1 domain containing 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1343023 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12310411 GATD3 glutamine amidotransferase class 1 domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12310411 GATD3 glutamine amidotransferase class 1 domain containing 3 gene DOID:9263 homocystinuria ISO RGD:1343023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12310411 GATD3 glutamine amidotransferase class 1 domain containing 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12310431 KLF5 KLF transcription factor 5 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1345927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12310431 KLF5 KLF transcription factor 5 gene DOID:0110459 dilated cardiomyopathy 1FF ISO RGD:1345927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1FF 12310431 KLF5 KLF transcription factor 5 gene DOID:10941 intracranial aneurysm ISO RGD:1345927 D RGD:9068941 20230202 RGD protein:increased expression:artery PMID:30201338|REF_RGD_ID:155883158 12310431 KLF5 KLF transcription factor 5 gene DOID:11054 urinary bladder cancer ISO RGD:1345927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27514407 12310431 KLF5 KLF transcription factor 5 gene DOID:1749 squamous cell carcinoma ISO RGD:1345927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 12310431 KLF5 KLF transcription factor 5 gene DOID:1793 pancreatic cancer ISO RGD:1345927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098869 12310431 KLF5 KLF transcription factor 5 gene DOID:224 transient cerebral ischemia ameliorates ISO RGD:621446 D RGD:9068941 20210716 RGD PMID:32272873|REF_RGD_ID:45073134 12310431 KLF5 KLF transcription factor 5 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1345927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30639269 12310431 KLF5 KLF transcription factor 5 gene DOID:3910 lung adenocarcinoma ISO RGD:1345927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 12310431 KLF5 KLF transcription factor 5 gene DOID:5082 liver cirrhosis ISO RGD:1345927 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33549628 12310431 KLF5 KLF transcription factor 5 gene DOID:630 genetic disease ISO RGD:1345927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310431 KLF5 KLF transcription factor 5 gene DOID:657 adenoma ISO RGD:1551083 D RGD:9068941 20200609 RGD PMID:14726538|REF_RGD_ID:1304288 12310431 KLF5 KLF transcription factor 5 gene DOID:9000784 Fibrosis severity ISO RGD:1551083 D RGD:9068941 20200609 RGD PMID:15098654|REF_RGD_ID:1304323 12310431 KLF5 KLF transcription factor 5 gene DOID:9002514 Neointima ISO RGD:1345927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16224062 12310431 KLF5 KLF transcription factor 5 gene DOID:9002514 Neointima ISO RGD:621446 D RGD:9068941 20200609 RGD PMID:10417400|REF_RGD_ID:1581746 12310431 KLF5 KLF transcription factor 5 gene DOID:9003936 Cardiomegaly ISO RGD:1551083 D RGD:9068941 20200609 RGD PMID:15098654|REF_RGD_ID:1304323 12310431 KLF5 KLF transcription factor 5 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1345927 D RGD:9068941 20200806 CTD CTD Direct Evidence: therapeutic PMID:32173973 12310431 KLF5 KLF transcription factor 5 gene DOID:9005396 Intimal Hyperplasia ISO RGD:621446 D RGD:9068941 20200609 RGD PMID:11120052|REF_RGD_ID:1581748 12310431 KLF5 KLF transcription factor 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 12310454 ARF1 ADP ribosylation factor 1 gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1353880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:28492532 12310454 ARF1 ADP ribosylation factor 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1353880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:12566280|PMID:24078732 12310454 ARF1 ADP ribosylation factor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1353880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12310454 ARF1 ADP ribosylation factor 1 gene DOID:2913 acute pancreatitis treatment ISO RGD:1553445 D RGD:9068941 20200609 RGD PMID:22570480|REF_RGD_ID:9684857 12310454 ARF1 ADP ribosylation factor 1 gene DOID:9002078 Periventricular Nodular Heterotopia 8 ISO RGD:1353880 D RGD:7240710 20190315 OMIM 12310454 ARF1 ADP ribosylation factor 1 gene DOID:9002078 Periventricular Nodular Heterotopia 8 ISO RGD:1353880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 8 PMID:25741868|PMID:28868155 12310454 ARF1 ADP ribosylation factor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1353880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27517156 12310454 ARF1 ADP ribosylation factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1353880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27517156 12310454 ARF1 ADP ribosylation factor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12310515 ETV4 ETS variant transcription factor 4 gene DOID:0080205 CAKUT ISO RGD:1315190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:30143558 12310515 ETV4 ETS variant transcription factor 4 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:19894111|PMID:23996866|PMID:24686251|PMID:28492532 12310515 ETV4 ETS variant transcription factor 4 gene DOID:630 genetic disease ISO RGD:1315190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310515 ETV4 ETS variant transcription factor 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315190 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869830 12310515 ETV4 ETS variant transcription factor 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315190 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17173048|PMID:27783944 12310515 ETV4 ETS variant transcription factor 4 gene DOID:9008192 Neoplastic Processes ISO RGD:1315190 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27783944 12310515 ETV4 ETS variant transcription factor 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1315190 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21679465 12310541 LOC475395 ribonuclease pancreatic-like gene DOID:0080600 COVID-19 ISO RGD:1320822 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12310541 LOC475395 ribonuclease pancreatic-like gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1320822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12310541 LOC475395 ribonuclease pancreatic-like gene DOID:630 genetic disease ISO RGD:1320822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310541 LOC475395 ribonuclease pancreatic-like gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1320822 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12310567 RNMT RNA guanine-7 methyltransferase gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1319473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12310567 RNMT RNA guanine-7 methyltransferase gene DOID:1059 intellectual disability ISO RGD:1319473 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12310567 RNMT RNA guanine-7 methyltransferase gene DOID:630 genetic disease ISO RGD:1319473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310589 AGFG1 ArfGAP with FG repeats 1 gene DOID:0070311 oligoasthenoteratozoospermia ISO RGD:1321482 D RGD:9068941 20220825 MouseDO 12310589 AGFG1 ArfGAP with FG repeats 1 gene DOID:630 genetic disease ISO RGD:1321481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310589 AGFG1 ArfGAP with FG repeats 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1321481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12310616 C28H10orf90 chromosome 28 C10orf90 homolog gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1313898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12310616 C28H10orf90 chromosome 28 C10orf90 homolog gene DOID:630 genetic disease ISO RGD:1313898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310654 SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 gene DOID:0050553 JMP syndrome ISO RGD:1312575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12310654 SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 gene DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 ISO RGD:1312575 D RGD:7240710 20210303 OMIM 12310654 SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 gene DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 ISO RGD:1312575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 PMID:25741868|PMID:33308444 12310654 SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 gene DOID:10283 prostate cancer ISO RGD:1312575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12310654 SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 gene DOID:630 genetic disease ISO RGD:1312575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310654 SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 gene DOID:9007661 Dwarfism ISO RGD:1312575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:33308444 12310683 BRSK2 BR serine/threonine kinase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12310683 BRSK2 BR serine/threonine kinase 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1345228 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12310683 BRSK2 BR serine/threonine kinase 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:1345228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12310683 BRSK2 BR serine/threonine kinase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12310683 BRSK2 BR serine/threonine kinase 2 gene DOID:1059 intellectual disability ISO RGD:1345228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12310683 BRSK2 BR serine/threonine kinase 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1345228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12310683 BRSK2 BR serine/threonine kinase 2 gene DOID:630 genetic disease ISO RGD:1345228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:30879638 12310683 BRSK2 BR serine/threonine kinase 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1345228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12310725 BEST1 bestrophin 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1323228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868 12310725 BEST1 bestrophin 1 gene DOID:0050661 vitelliform macular dystrophy ISO RGD:1323228 D RGD:9068941 20230112 CTD CTD Direct Evidence: marker/mechanism 12310725 BEST1 bestrophin 1 gene DOID:0050661 vitelliform macular dystrophy ISO RGD:1323229 D RGD:9068941 20230112 MouseDO OMIM:153700 | OMIM:153840 | OMIM:608161 | OMIM:616151 | OMIM:616152 12310725 BEST1 bestrophin 1 gene DOID:0050662 bestrophinopathy IAGP D RGD:12801476 20210603 OMIA Multifocal retinopathy 2 PMID:17460247|PMID:11397233|PMID:21498618|PMID:22065099|PMID:22183385|PMID:24143172 12310725 BEST1 bestrophin 1 gene DOID:0050662 bestrophinopathy IAGP D RGD:12801476 20210825 OMIA Multifocal retinopathy 3 PMID:11397233|PMID:21197113|PMID:22065099|PMID:22183385|PMID:24143172|PMID:24599007 12310725 BEST1 bestrophin 1 gene DOID:0050662 bestrophinopathy IAGP D RGD:12801476 20230308 OMIA Multifocal retinopathy 1 PMID:17460247|PMID:11397233|PMID:21197113|PMID:21498618|PMID:22065099|PMID:22183385|PMID:22432598|PMID:24143172|PMID:23998685|PMID:24599007|PMID:36848350 12310725 BEST1 bestrophin 1 gene DOID:0050662 bestrophinopathy ISO RGD:1323228 D RGD:7240710 20180130 OMIM 12310725 BEST1 bestrophin 1 gene DOID:0050662 bestrophinopathy ISO RGD:1323228 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy PMID:10788642|PMID:10798642|PMID:10854112|PMID:16754206|PMID:17110374|PMID:17287362|PMID:18179881|PMID:18985398|PMID:19372599|PMID:20057343|PMID:20927214|PMID:21077756|PMID:21109774|PMID:21192766|PMID:21269699|PMID:21273940|PMID:2133066|PMID:21330666|PMID:21412020|PMID:2162627|PMID:21738390|PMID:21809908|PMID:21825197|PMID:21878505|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23213274|PMID:23290749|PMID:23825107|PMID:24033266|PMID:24560797|PMID:25082885|PMID:25324289|PMID:25489231|PMID:25741868|PMID:26200502|PMID:26201355|PMID:26310487|PMID:26333019|PMID:26720466|PMID:27071392|PMID:27519691|PMID:27764019|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28687848|PMID:29063836|PMID:29215532|PMID:29507198|PMID:29555955|PMID:29668979|PMID:29781975|PMID:30498755|PMID:30578502|PMID:30593719|PMID:30718709|PMID:31570112|PMID:31766397|PMID:31814694|PMID:32141364|PMID:32239196|PMID:33302512|PMID:33546218|PMID:34015078|PMID:34327816|PMID:9700209 12310725 BEST1 bestrophin 1 gene DOID:0050817 Stargardt disease ISO RGD:1323228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:10854112|PMID:16754206|PMID:18179881|PMID:21109774|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:23290749|PMID:25741868|PMID:26200502|PMID:26333019|PMID:27519691|PMID:28492532|PMID:29507198|PMID:30718709|PMID:32207364|PMID:33546218 12310725 BEST1 bestrophin 1 gene DOID:0110396 retinitis pigmentosa 50 ISO RGD:1323228 D RGD:7240710 20180130 OMIM 12310725 BEST1 bestrophin 1 gene DOID:0110396 retinitis pigmentosa 50 ISO RGD:1323228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 50 PMID:19853238|PMID:21330666|PMID:24560797|PMID:25741868|PMID:26418331|PMID:26716959|PMID:28492532|PMID:28559085|PMID:29847639|PMID:30582078|PMID:30718709|PMID:32239196|PMID:9700209 12310725 BEST1 bestrophin 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12310725 BEST1 bestrophin 1 gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1323228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 12310725 BEST1 bestrophin 1 gene DOID:0111031 hemochromatosis type 5 ISO RGD:1323228 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 5 PMID:14615048|PMID:28492532 12310725 BEST1 bestrophin 1 gene DOID:0111569 autosomal dominant vitreoretinochoroidopathy ISO RGD:1323228 D RGD:7240710 20180130 OMIM 12310725 BEST1 bestrophin 1 gene DOID:0111569 autosomal dominant vitreoretinochoroidopathy ISO RGD:1323228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy | ClinVar Annotator: match by term: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 | ClinVar Annotator: match by term: VRCP autosomal dominant PMID:10798642|PMID:10854112|PMID:11585313|PMID:12543751|PMID:13534955|PMID:14615048|PMID:15452077|PMID:16754206|PMID:17110374|PMID:17576681|PMID:18179881|PMID:18611979|PMID:19853238|PMID:21072067|PMID:21109774|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23290749|PMID:24033266|PMID:25741868|PMID:25999674|PMID:26200502|PMID:26333019|PMID:26771239|PMID:27519691|PMID:27764019|PMID:28492532|PMID:28559085|PMID:28590961|PMID:28687848|PMID:29063836|PMID:29068140|PMID:29555955|PMID:29844330|PMID:29976937|PMID:30498755|PMID:30718709|PMID:33546218|PMID:9536098 12310725 BEST1 bestrophin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1323228 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10453731|PMID:10798642|PMID:10854112|PMID:11713080|PMID:14615048|PMID:16754206|PMID:17110374|PMID:17576681|PMID:17898294|PMID:18179881|PMID:19853238|PMID:21109774|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23290749|PMID:24033266|PMID:24560797|PMID:25741868|PMID:26200502|PMID:26333019|PMID:27519691|PMID:27764019|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28687848|PMID:29063836|PMID:29068140|PMID:29847639|PMID:29976937|PMID:30498755|PMID:30718709|PMID:33546218|PMID:9536098 12310725 BEST1 bestrophin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1323228 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10798642|PMID:10854112|PMID:14615048|PMID:16754206|PMID:17110374|PMID:17576681|PMID:18179881|PMID:19853238|PMID:21109774|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23290749|PMID:24033266|PMID:25741868|PMID:26200502|PMID:26333019|PMID:27519691|PMID:27764019|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29063836|PMID:29068140|PMID:30718709|PMID:33546218|PMID:9536098 12310725 BEST1 bestrophin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1323228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10798642|PMID:10854112|PMID:14615048|PMID:16754206|PMID:17110374|PMID:17576681|PMID:18179881|PMID:19853238|PMID:20057343|PMID:21109774|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23290749|PMID:24033266|PMID:24560797|PMID:25324289|PMID:25489231|PMID:25741868|PMID:26200502|PMID:26310487|PMID:26333019|PMID:27071392|PMID:27519691|PMID:27764019|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28590961|PMID:28687848|PMID:29063836|PMID:29068140|PMID:29847639|PMID:29976937|PMID:30498755|PMID:30593719|PMID:30718709|PMID:33039401|PMID:33302512|PMID:33546218|PMID:9536098 12310725 BEST1 bestrophin 1 gene DOID:1059 intellectual disability ISO RGD:1323228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12310725 BEST1 bestrophin 1 gene DOID:4448 macular degeneration ISO RGD:1323228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:10798642|PMID:11241846|PMID:25741868|PMID:27031371|PMID:27193166|PMID:28481155|PMID:28492532|PMID:28559085|PMID:29781975|PMID:30718709|PMID:30880907|PMID:33546218 12310725 BEST1 bestrophin 1 gene DOID:630 genetic disease ISO RGD:1323228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12310725 BEST1 bestrophin 1 gene DOID:8501 fundus dystrophy ISO RGD:1323228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10331951|PMID:10394929|PMID:10788642|PMID:10798642|PMID:10854112|PMID:11585313|PMID:11756879|PMID:11904445|PMID:12565808|PMID:13129869|PMID:13534955|PMID:14205432|PMID:15452077|PMID:16286623|PMID:16754206|PMID:16769844|PMID:17065513|PMID:17110374|PMID:17576681|PMID:18179881|PMID:18289629|PMID:18844018|PMID:18985398|PMID:19375515|PMID:19597114|PMID:19853238|PMID:20375334|PMID:20381869|PMID:20927214|PMID:21072067|PMID:21109774|PMID:21192766|PMID:21269699|PMID:21273940|PMID:21320969|PMID:2133066|PMID:21330666|PMID:21436265|PMID:21473666|PMID:21809908|PMID:21825197|PMID:21878505|PMID:23213274|PMID:23290749|PMID:23825107|PMID:23880862|PMID:24560797|PMID:25082885|PMID:25174897|PMID:25489231|PMID:25741868|PMID:26200502|PMID:26201355|PMID:26333019|PMID:26418331|PMID:26720466|PMID:26771239|PMID:27078032|PMID:27193166|PMID:27519691|PMID:28041643|PMID:28225368|PMID:28492532|PMID:28559085|PMID:28687848|PMID:29115605|PMID:29555955|PMID:29668979|PMID:29781975|PMID:29847639|PMID:29976937|PMID:30498755|PMID:30582078|PMID:30593719|PMID:30718709|PMID:31519547|PMID:32239196|PMID:33546218|PMID:9536098|PMID:9662395|PMID:9700209 12310725 BEST1 bestrophin 1 gene DOID:9002891 Vitelliform Macular Dystrophy 2 ISO RGD:1323228 D RGD:7240710 20180725 OMIM 12310725 BEST1 bestrophin 1 gene DOID:9002891 Vitelliform Macular Dystrophy 2 ISO RGD:1323228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 PMID:10331951|PMID:10394929|PMID:10453731|PMID:10766140|PMID:10788642|PMID:10798642|PMID:10854112|PMID:11241846|PMID:11713080|PMID:11756879|PMID:11904445|PMID:12939260|PMID:13129869|PMID:14205432|PMID:14517959|PMID:14615048|PMID:16286623|PMID:16754206|PMID:17065513|PMID:17110374|PMID:17576681|PMID:17698758|PMID:17898294|PMID:18179881|PMID:18289629|PMID:18703557|PMID:18985398|PMID:19372599|PMID:19597114|PMID:19853238|PMID:20057903|PMID:20375334|PMID:20381869|PMID:20927214|PMID:21109774|PMID:21192766|PMID:21269699|PMID:21273940|PMID:2133066|PMID:21330666|PMID:21436265|PMID:21467170|PMID:21473666|PMID:2162627|PMID:21738390|PMID:21809908|PMID:21825197|PMID:21878505|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23213274|PMID:23290749|PMID:23617333|PMID:23825107|PMID:23880862|PMID:24033266|PMID:24560797|PMID:25082885|PMID:25174897|PMID:25489231|PMID:25741868|PMID:25878489|PMID:26200502|PMID:26201355|PMID:26333019|PMID:26418331|PMID:26720466|PMID:27031371|PMID:27078032|PMID:27193166|PMID:27519691|PMID:27764019|PMID:28225368|PMID:28481155|PMID:28492532|PMID:28559085|PMID:28590961|PMID:28687848|PMID:28791410|PMID:29063836|PMID:29068140|PMID:29555955|PMID:29668979|PMID:29781975|PMID:29976937|PMID:30498755|PMID:30582078|PMID:30593719|PMID:30718709|PMID:30880907|PMID:31456290|PMID:31519547|PMID:31570112|PMID:31814694|PMID:32207364|PMID:33039401|PMID:33546218|PMID:838599|PMID:9536098|PMID:9662395|PMID:9700209 12310725 BEST1 bestrophin 1 gene DOID:9005725 Iron Overload ISO RGD:1323228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Iron Overload PMID:14615048|PMID:25741868|PMID:28492532|PMID:28687848 12310746 IPO7 importin 7 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1321989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12310746 IPO7 importin 7 gene DOID:630 genetic disease ISO RGD:1321989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310775 ACOD1 aconitate decarboxylase 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:2292071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12310787 DNAH3 dynein axonemal heavy chain 3 gene DOID:10283 prostate cancer ISO RGD:1314138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12310787 DNAH3 dynein axonemal heavy chain 3 gene DOID:1059 intellectual disability ISO RGD:1314138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12310787 DNAH3 dynein axonemal heavy chain 3 gene DOID:630 genetic disease ISO RGD:1314138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737399 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:0060770 dextro-looped transposition of the great arteries susceptibility ISO RGD:737399 D RGD:9068941 20200609 RGD DNA:SNP: : (rs1051266) (human) PMID:22868813|REF_RGD_ID:11565105 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:737399 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:737399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:737399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:10584 retinitis pigmentosa ISO RGD:737399 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29977801 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:11054 urinary bladder cancer ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21760912 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:12365 malaria ISO RGD:737399 D RGD:9068941 20210219 RGD DNA:SNP::g.80G>A (human) PMID:27198213|REF_RGD_ID:40903062 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:12849 autistic disorder ISO RGD:737399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:1289 neurodegenerative disease ISO RGD:737399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive neurodegenerative disease PMID:25741868|PMID:28492532|PMID:31623504 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:13550 angle-closure glaucoma ISO RGD:737399 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glaucoma, primary closed-angle PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:26467025|PMID:28041643|PMID:28492532|PMID:29977801|PMID:31623504 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:14250 Down syndrome ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16845273|PMID:17431899 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:1826 epilepsy ISO RGD:737399 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:2531 hematologic cancer ameliorates ISO RGD:737399 D RGD:9068941 20210219 RGD DNA:missense mutation:CDS:p.H27R (human) PMID:21984221|REF_RGD_ID:10449413 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:4448 macular degeneration ISO RGD:737399 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29977801 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:630 genetic disease ISO RGD:737399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:657 adenoma ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16963246 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:674 cleft palate ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:784 chronic kidney disease ISO RGD:3695 D RGD:9068941 20200609 RGD mRNA:decreased expression:multiple (rat) PMID:21149507|REF_RGD_ID:7327184 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:83 cataract ISO RGD:737399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:12415512|PMID:25456301|PMID:28492532 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:8501 fundus dystrophy ISO RGD:737399 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29977801 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:863 nervous system disease ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:737399 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:9002017 Folate-Responsive Megaloblastic Anemia ISO RGD:737399 D RGD:7240710 20210414 OMIM 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:9002033 Knobloch Syndrome ISO RGD:737399 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Knobloch syndrome PMID:12415512|PMID:14695535|PMID:1554013|PMID:17546652|PMID:17576681|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:24033266|PMID:25456301|PMID:25741868|PMID:26467025|PMID:28041643|PMID:28492532|PMID:29977801|PMID:32860008|PMID:9536098 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:9002766 Knobloch Syndrome Type I ISO RGD:737399 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Knobloch syndrome 1 PMID:25741868|PMID:28492532 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:9002801 Recurrence ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17255265 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15705887 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:9006205 Animal Disease Models ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16963246 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737399 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma PMID:15457444|PMID:15677700|PMID:17325736|PMID:18322994|PMID:19827168|PMID:22450926|PMID:22992668|PMID:25227144|PMID:26616421|PMID:27992285|PMID:28492532|PMID:31099054 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:9263 homocystinuria ISO RGD:737399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:9296 cleft lip ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:9296 cleft lip susceptibility ISO RGD:737399 D RGD:9068941 20200609 RGD DNA:SNP: :80G>A (human) PMID:18797703|REF_RGD_ID:11565176 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:737399 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12310858 SLC19A1 solute carrier family 19 member 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17255265 12310865 TEX28 testis expressed 28 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1342529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia PMID:28492532 12310865 TEX28 testis expressed 28 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1342529 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12310865 TEX28 testis expressed 28 gene DOID:0050476 Barth syndrome ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12310865 TEX28 testis expressed 28 gene DOID:0050800 creatine transporter deficiency ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 12310865 TEX28 testis expressed 28 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12310865 TEX28 testis expressed 28 gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 12310865 TEX28 testis expressed 28 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 12310865 TEX28 testis expressed 28 gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 12310865 TEX28 testis expressed 28 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 12310865 TEX28 testis expressed 28 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 12310865 TEX28 testis expressed 28 gene DOID:0112003 immunodeficiency 33 ISO RGD:1342529 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12310865 TEX28 testis expressed 28 gene DOID:10588 adrenoleukodystrophy ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12310865 TEX28 testis expressed 28 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12310865 TEX28 testis expressed 28 gene DOID:12849 autistic disorder ISO RGD:1342529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12310865 TEX28 testis expressed 28 gene DOID:13628 favism ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12310865 TEX28 testis expressed 28 gene DOID:2729 dyskeratosis congenita ISO RGD:1342529 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12310865 TEX28 testis expressed 28 gene DOID:607 paraplegia ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12310865 TEX28 testis expressed 28 gene DOID:9002720 Splenomegaly ISO RGD:1342529 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12310865 TEX28 testis expressed 28 gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 12310865 TEX28 testis expressed 28 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 12310885 CFAP107 cilia and flagella associated protein 107 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602191 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12310893 LYPLA1 lysophospholipase 1 gene DOID:630 genetic disease ISO RGD:735384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310906 MRPL34 mitochondrial ribosomal protein L34 gene DOID:630 genetic disease ISO RGD:1345591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310912 BARX1 BARX homeobox 1 gene DOID:12642 hiatus hernia ISO RGD:1322041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hiatus hernia 12310912 BARX1 BARX homeobox 1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1322041 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121790 12310912 BARX1 BARX homeobox 1 gene DOID:630 genetic disease ISO RGD:1322041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310919 SPMIP6 sperm microtubule inner protein 6 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1322222 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12310919 SPMIP6 sperm microtubule inner protein 6 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1322222 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12310919 SPMIP6 sperm microtubule inner protein 6 gene DOID:0080942 anauxetic dysplasia ISO RGD:1322222 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12310919 SPMIP6 sperm microtubule inner protein 6 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1322222 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12310919 SPMIP6 sperm microtubule inner protein 6 gene DOID:630 genetic disease ISO RGD:1322222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310919 SPMIP6 sperm microtubule inner protein 6 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322222 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12310919 SPMIP6 sperm microtubule inner protein 6 gene DOID:9870 galactosemia ISO RGD:1322222 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12310934 FAM136A family with sequence similarity 136 member A gene DOID:630 genetic disease ISO RGD:1605923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310934 FAM136A family with sequence similarity 136 member A gene DOID:9849 Meniere's disease ISO RGD:1605923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:25305078 12310941 CLBA1 clathrin binding box of aftiphilin containing 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1316438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12310941 CLBA1 clathrin binding box of aftiphilin containing 1 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1316438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 12310955 ADGRB1 adhesion G protein-coupled receptor B1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1313737 D RGD:9068941 20200609 RGD PMID:11172604|REF_RGD_ID:13831357 12310955 ADGRB1 adhesion G protein-coupled receptor B1 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1313737 D RGD:9068941 20200609 RGD PMID:25376607|REF_RGD_ID:13831358 12310955 ADGRB1 adhesion G protein-coupled receptor B1 gene DOID:3068 glioblastoma ISO RGD:1313737 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain: PMID:12507886|REF_RGD_ID:13831355 12310955 ADGRB1 adhesion G protein-coupled receptor B1 gene DOID:3068 glioblastoma treatment ISO RGD:1313737 D RGD:9068941 20200609 RGD PMID:16244591|REF_RGD_ID:13831352 12310955 ADGRB1 adhesion G protein-coupled receptor B1 gene DOID:3069 malignant astrocytoma severity ISO RGD:1313737 D RGD:9068941 20200609 RGD PMID:23761815|REF_RGD_ID:13831356 12310955 ADGRB1 adhesion G protein-coupled receptor B1 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1313737 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreas PMID:11875720|REF_RGD_ID:13831350 12310955 ADGRB1 adhesion G protein-coupled receptor B1 gene DOID:4450 renal cell carcinoma severity ISO RGD:1313737 D RGD:9068941 20200609 RGD PMID:21511296|REF_RGD_ID:13831349 12310955 ADGRB1 adhesion G protein-coupled receptor B1 gene DOID:630 genetic disease ISO RGD:1313737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12310955 ADGRB1 adhesion G protein-coupled receptor B1 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1313737 D RGD:9068941 20200609 RGD associated with stomach cancer; PMID:11172604|REF_RGD_ID:13831357 12310955 ADGRB1 adhesion G protein-coupled receptor B1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313737 D RGD:9068941 20200609 RGD associated with colorectal cancer PMID:9772287|REF_RGD_ID:13831353 12310955 ADGRB1 adhesion G protein-coupled receptor B1 gene DOID:9256 colorectal cancer ISO RGD:1313737 D RGD:9068941 20200609 RGD mRNA:decreased expression:colorectum PMID:9772287|REF_RGD_ID:13831353 12310985 LOC102156679 zinc finger protein 850-like gene DOID:630 genetic disease ISO RGD:2302450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12311013 RRBP1 ribosome binding protein 1 gene DOID:630 genetic disease ISO RGD:1315209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12311041 CHRM3 cholinergic receptor muscarinic 3 gene DOID:0050685 small cell carcinoma ISO RGD:734195 D RGD:9068941 20200609 RGD PMID:20150622|REF_RGD_ID:5133439 12311041 CHRM3 cholinergic receptor muscarinic 3 gene DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ISO RGD:737208 D RGD:9068941 20220825 MouseDO OMIM:155310 12311041 CHRM3 cholinergic receptor muscarinic 3 gene DOID:0060889 prune belly syndrome ISO RGD:734195 D RGD:7240710 20180130 OMIM 12311041 CHRM3 cholinergic receptor muscarinic 3 gene DOID:0060889 prune belly syndrome ISO RGD:734195 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prune belly syndrome PMID:25741868|PMID:28492532|PMID:31441039 12311041 CHRM3 cholinergic receptor muscarinic 3 gene DOID:11383 cryptorchidism ISO RGD:734195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22077972 12311041 CHRM3 cholinergic receptor muscarinic 3 gene DOID:1540 parathyroid carcinoma ISO RGD:734195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12311041 CHRM3 cholinergic receptor muscarinic 3 gene DOID:2841 asthma ISO RGD:737208 D RGD:9068941 20200609 RGD PMID:18348887|REF_RGD_ID:5133438 12311041 CHRM3 cholinergic receptor muscarinic 3 gene DOID:2841 asthma severity ISO RGD:734195 D RGD:9068941 20200609 RGD PMID:20394512|REF_RGD_ID:5133437 12311041 CHRM3 cholinergic receptor muscarinic 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:734195 D RGD:9068941 20200609 RGD PMID:19281093|REF_RGD_ID:5133441 12311041 CHRM3 cholinergic receptor muscarinic 3 gene DOID:365 bladder disease ISO RGD:734195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22077972 12311041 CHRM3 cholinergic receptor muscarinic 3 gene DOID:365 bladder disease ISO RGD:734195 D RGD:9068941 20200609 RGD PMID:17922784|REF_RGD_ID:5133442 12311041 CHRM3 cholinergic receptor muscarinic 3 gene DOID:3770 pulmonary fibrosis ISO RGD:734195 D RGD:9068941 20200609 RGD PMID:18480105|REF_RGD_ID:5133440 12311041 CHRM3 cholinergic receptor muscarinic 3 gene DOID:5082 liver cirrhosis ISO RGD:734195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20197374 12311041 CHRM3 cholinergic receptor muscarinic 3 gene DOID:630 genetic disease ISO RGD:734195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12311041 CHRM3 cholinergic receptor muscarinic 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12311041 CHRM3 cholinergic receptor muscarinic 3 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:734195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 12311041 CHRM3 cholinergic receptor muscarinic 3 gene DOID:9006095 Ascites ISO RGD:734195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20197374 12311041 CHRM3 cholinergic receptor muscarinic 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20197374 12311041 CHRM3 cholinergic receptor muscarinic 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12311078 TSHR thyroid stimulating hormone receptor gene DOID:0050328 congenital hypothyroidism ISO RGD:737021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:11442002|PMID:15693879|PMID:16756469|PMID:17526952|PMID:19158199|PMID:19506388|PMID:21677043|PMID:21707688|PMID:21714469|PMID:22405933|PMID:22876533|PMID:23926367|PMID:24033266|PMID:24895636|PMID:25741868|PMID:26709262|PMID:27084275|PMID:27637299|PMID:28444304|PMID:28455095|PMID:28492532|PMID:30083029|PMID:31356790 12311078 TSHR thyroid stimulating hormone receptor gene DOID:0050700 cardiomyopathy ISO RGD:737021 D RGD:9068941 20200609 RGD PMID:8796147|REF_RGD_ID:1580777 12311078 TSHR thyroid stimulating hormone receptor gene DOID:0060572 Ritscher-Schinzel syndrome 2 ISO RGD:737021 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 2 PMID:11442002|PMID:15693879|PMID:16756469|PMID:17526952|PMID:19158199|PMID:19506388|PMID:21677043|PMID:21707688|PMID:21714469|PMID:22405933|PMID:22876533|PMID:23926367|PMID:24033266|PMID:24895636|PMID:25741868|PMID:26709262|PMID:27084275|PMID:27637299|PMID:28444304|PMID:28455095|PMID:28492532|PMID:30083029|PMID:31356790 12311078 TSHR thyroid stimulating hormone receptor gene DOID:0070126 congenital nongoitrous hypothyroidism 1 ISO RGD:737021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPOTHYROIDISM, NONAUTOIMMUNE | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 PMID:10037069|PMID:10720030|PMID:10870027|PMID:11095460|PMID:11442002|PMID:12050212|PMID:12629076|PMID:14725684|PMID:15514085|PMID:15693879|PMID:16060907|PMID:16756469|PMID:17062880|PMID:17524032|PMID:17526952|PMID:17705697|PMID:17953807|PMID:18379122|PMID:18727713|PMID:18850313|PMID:19158199|PMID:19221175|PMID:19240155|PMID:19506388|PMID:1955520|PMID:19820021|PMID:20652618|PMID:20718767|PMID:20736161|PMID:21186955|PMID:21586576|PMID:21677043|PMID:21707688|PMID:21714469|PMID:22049173|PMID:22112806|PMID:22359649|PMID:22405933|PMID:22876533|PMID:23356285|PMID:23535966|PMID:23926367|PMID:24033266|PMID:24728327|PMID:24895636|PMID:25248169|PMID:25557138|PMID:25741868|PMID:26709262|PMID:27060741|PMID:27084275|PMID:27255745|PMID:27578510|PMID:27637299|PMID:28444304|PMID:28455095|PMID:28492532|PMID:28561265|PMID:29092890|PMID:30083029|PMID:30372544|PMID:31356790|PMID:7528344|PMID:8954020|PMID:8964822|PMID:9100579|PMID:9185526|PMID:9329388|PMID:9385128|PMID:9589634 12311078 TSHR thyroid stimulating hormone receptor gene DOID:0081101 nonautoimmune hyperthyroidism ISO RGD:737021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperthyroidism, nonautoimmune | ClinVar Annotator: match by term: TOXIC THYROID HYPERPLASIA, AUTOSOMAL DOMINANT PMID:10037069|PMID:10199795|PMID:10870027|PMID:11442002|PMID:11549687|PMID:12050212|PMID:12629076|PMID:14725684|PMID:15514085|PMID:15693879|PMID:16060907|PMID:16106256|PMID:16756469|PMID:17062880|PMID:17524032|PMID:17526952|PMID:17705697|PMID:17953807|PMID:18379122|PMID:18727713|PMID:18850313|PMID:19158199|PMID:19221175|PMID:19240155|PMID:19506388|PMID:1955520|PMID:19820021|PMID:20652618|PMID:20718767|PMID:20736161|PMID:21186955|PMID:21586576|PMID:21677043|PMID:21707688|PMID:21714469|PMID:22049173|PMID:22112806|PMID:22359649|PMID:22405933|PMID:22876533|PMID:23356285|PMID:23535966|PMID:23926367|PMID:24033266|PMID:24728327|PMID:24895636|PMID:25248169|PMID:25557138|PMID:25741868|PMID:26709262|PMID:27060741|PMID:27084275|PMID:27255745|PMID:27578510|PMID:27637299|PMID:28444304|PMID:28455095|PMID:28492532|PMID:28561265|PMID:29092890|PMID:30083029|PMID:30372544|PMID:31356790|PMID:7124278|PMID:7528344|PMID:7800007|PMID:7920658|PMID:8954020|PMID:8964822|PMID:9100579|PMID:9185526|PMID:9253356|PMID:9329388|PMID:9360555|PMID:9360556|PMID:9385128|PMID:9398746|PMID:9589634 12311078 TSHR thyroid stimulating hormone receptor gene DOID:0081102 familial gestational hyperthyroidism ISO RGD:737021 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial gestational hyperthyroidism PMID:12050212|PMID:24033266|PMID:24728327|PMID:25741868|PMID:7528344|PMID:8636266|PMID:8964822|PMID:9329388|PMID:9360555 12311078 TSHR thyroid stimulating hormone receptor gene DOID:0081120 Graves ophthalmopathy ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31705858 12311078 TSHR thyroid stimulating hormone receptor gene DOID:0081120 Graves ophthalmopathy ISO RGD:737021 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs179247 (human) PMID:22673349|REF_RGD_ID:8548662 12311078 TSHR thyroid stimulating hormone receptor gene DOID:0081120 Graves ophthalmopathy severity ISO RGD:737021 D RGD:9068941 20200609 RGD PMID:20237164|REF_RGD_ID:8548673 12311078 TSHR thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:11458 D RGD:9068941 20230506 RGD PMID:23538203|REF_RGD_ID:8548657 12311078 TSHR thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:737021 D RGD:9068941 20230506 CTD CTD Direct Evidence: marker/mechanism PMID:1955520|PMID:21841780 12311078 TSHR thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:737021 D RGD:9068941 20230506 RGD PMID:7828357|PMID:9528975|REF_RGD_ID:8548663|REF_RGD_ID:8548669 12311078 TSHR thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:737021 D RGD:9068941 20230506 RGD DNA, mRNA:SNPs, decreased expression:promoter, intron, thymus:rs179247, rs2268458, rs2371462 (human) PMID:21642385|REF_RGD_ID:8548654 12311078 TSHR thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:737021 D RGD:9068941 20230506 RGD DNA:SNPs: :multiple PMID:19244275|REF_RGD_ID:8548656 12311078 TSHR thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:737021 D RGD:9068941 20230506 RGD DNA:SNPs:intron:rs179247, rs12101255 (human) PMID:21124799|REF_RGD_ID:8548655 12311078 TSHR thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:737021 D RGD:9068941 20230506 RGD DNA:polymorphism: :pD727E (human) PMID:11887032|REF_RGD_ID:8548661 12311078 TSHR thyroid stimulating hormone receptor gene DOID:12361 Graves' disease no_association ISO RGD:737021 D RGD:9068941 20200609 RGD DNA:SNPs:intron:rs179247, rs12101255 and rs2268458 (human) PMID:21155717|REF_RGD_ID:8548665 12311078 TSHR thyroid stimulating hormone receptor gene DOID:12361 Graves' disease treatment ISO RGD:737021 D RGD:9068941 20200609 RGD PMID:24518168|REF_RGD_ID:8548664 12311078 TSHR thyroid stimulating hormone receptor gene DOID:1459 hypothyroidism ISO RGD:737021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:19240155|PMID:19820021|PMID:22049173|PMID:25557138|PMID:25741868|PMID:27060741|PMID:28492532|PMID:28561265 12311078 TSHR thyroid stimulating hormone receptor gene DOID:1612 breast cancer ISO RGD:737021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:19240155|PMID:19820021|PMID:22049173|PMID:25557138|PMID:25741868|PMID:27060741|PMID:28492532|PMID:28561265 12311078 TSHR thyroid stimulating hormone receptor gene DOID:1826 epilepsy ISO RGD:737021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure disorder PMID:12050212|PMID:25741868|PMID:8964822 12311078 TSHR thyroid stimulating hormone receptor gene DOID:2394 ovarian cancer ISO RGD:737021 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:11442002|PMID:15693879|PMID:16756469|PMID:17526952|PMID:19158199|PMID:19506388|PMID:21677043|PMID:21707688|PMID:21714469|PMID:22405933|PMID:22876533|PMID:23926367|PMID:24033266|PMID:24895636|PMID:25248169|PMID:25741868|PMID:26709262|PMID:27084275|PMID:27637299|PMID:28444304|PMID:28455095|PMID:28492532|PMID:30083029|PMID:31356790 12311078 TSHR thyroid stimulating hormone receptor gene DOID:305 carcinoma ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9062474 12311078 TSHR thyroid stimulating hormone receptor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12311078 TSHR thyroid stimulating hormone receptor gene DOID:630 genetic disease ISO RGD:737021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12629076|PMID:14725684|PMID:16060907|PMID:17524032|PMID:17705697|PMID:18727713|PMID:19240155|PMID:19820021|PMID:20718767|PMID:21186955|PMID:22049173|PMID:22112806|PMID:22876533|PMID:25557138|PMID:25741868|PMID:27060741|PMID:27255745|PMID:27637299|PMID:28492532|PMID:28561265|PMID:29092890|PMID:29546359|PMID:30372544|PMID:32425884|PMID:34276565|PMID:8954020|PMID:9100579|PMID:9185526 12311078 TSHR thyroid stimulating hormone receptor gene DOID:657 adenoma ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8413627 12311078 TSHR thyroid stimulating hormone receptor gene DOID:7188 autoimmune thyroiditis ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17952073 12311078 TSHR thyroid stimulating hormone receptor gene DOID:7997 thyrotoxicosis ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9062474 12311078 TSHR thyroid stimulating hormone receptor gene DOID:7998 hyperthyroidism ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7800007|PMID:8413627|PMID:8964822 12311078 TSHR thyroid stimulating hormone receptor gene DOID:9000081 Lymphatic Metastasis ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9062474 12311078 TSHR thyroid stimulating hormone receptor gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19131502 12311078 TSHR thyroid stimulating hormone receptor gene DOID:9000591 Congenital Nongoitrous Hypothyroidism ISO RGD:737021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPOTHYROIDISM DUE TO UNRESPONSIVENESS TO THYROTROPIN | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO TSH RESISTANCE | ClinVar Annotator: match by term: TSH RESISTANCE PMID:10037069|PMID:10720030|PMID:10870027|PMID:11095460|PMID:11442002|PMID:12050212|PMID:12629076|PMID:14725684|PMID:15514085|PMID:15693879|PMID:16060907|PMID:16756469|PMID:17062880|PMID:17524032|PMID:17526952|PMID:17705697|PMID:17953807|PMID:18379122|PMID:18727713|PMID:18850313|PMID:19158199|PMID:19221175|PMID:19240155|PMID:19506388|PMID:1955520|PMID:19820021|PMID:20652618|PMID:20718767|PMID:20736161|PMID:21186955|PMID:21586576|PMID:21677043|PMID:21707688|PMID:21714469|PMID:22049173|PMID:22112806|PMID:22359649|PMID:22405933|PMID:22876533|PMID:23356285|PMID:23535966|PMID:23926367|PMID:24033266|PMID:24728327|PMID:24895636|PMID:25248169|PMID:25557138|PMID:25741868|PMID:26709262|PMID:27060741|PMID:27084275|PMID:27255745|PMID:27578510|PMID:27637299|PMID:28444304|PMID:28455095|PMID:28492532|PMID:28561265|PMID:29092890|PMID:30083029|PMID:30372544|PMID:31356790|PMID:7528344|PMID:8954020|PMID:8964822|PMID:9100579|PMID:9185526|PMID:9329388|PMID:9385128|PMID:9589634 12311078 TSHR thyroid stimulating hormone receptor gene DOID:9004547 Thyroid Neoplasms ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8413627|PMID:9062474 12311078 TSHR thyroid stimulating hormone receptor gene DOID:9005172 Lung Neoplasms ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9062474 12311078 TSHR thyroid stimulating hormone receptor gene DOID:9005447 Hyperfunctioning Thyroid Adenoma ISO RGD:737021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid adenoma, hyperfunctioning PMID:7800007|PMID:8413627|PMID:9253356|PMID:9360556|PMID:9398746 12311078 TSHR thyroid stimulating hormone receptor gene DOID:9007355 Hashimoto Disease ISO RGD:737021 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs3783938 (human) PMID:22673349|REF_RGD_ID:8548662 12311078 TSHR thyroid stimulating hormone receptor gene DOID:9008086 Developmental Disabilities ISO RGD:737021 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:12050212|PMID:25741868|PMID:8964822 12311078 TSHR thyroid stimulating hormone receptor gene DOID:988 mitral valve prolapse ISO RGD:737021 D RGD:9068941 20200609 RGD PMID:10199795|REF_RGD_ID:1580775 12311097 TBX19 T-box transcription factor 19 gene DOID:0080150 adrenocorticotropic hormone deficiency ISO RGD:1320875 D RGD:7240710 20180130 OMIM 12311097 TBX19 T-box transcription factor 19 gene DOID:0080150 adrenocorticotropic hormone deficiency ISO RGD:1320875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ACTH deficiency PMID:11290323|PMID:12651888|PMID:15476446|PMID:15613420|PMID:17576681|PMID:17652218|PMID:22170728|PMID:25326635|PMID:25741868|PMID:2830787|PMID:28492532|PMID:33423260|PMID:9536098 12311097 TBX19 T-box transcription factor 19 gene DOID:0111942 immunodeficiency 25 ISO RGD:1320875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 12311097 TBX19 T-box transcription factor 19 gene DOID:1540 parathyroid carcinoma ISO RGD:1320875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12311097 TBX19 T-box transcription factor 19 gene DOID:1574 alcohol use disorder ISO RGD:1320875 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 12311097 TBX19 T-box transcription factor 19 gene DOID:630 genetic disease ISO RGD:1320875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12311097 TBX19 T-box transcription factor 19 gene DOID:655 inherited metabolic disorder ISO RGD:1320875 D RGD:9068941 20200609 RGD ACTH deficiency, OMIM:201400 PMID:11290323|REF_RGD_ID:1599334 12311097 TBX19 T-box transcription factor 19 gene DOID:9008622 Adrenal Insufficiency ISO RGD:1320875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal insufficiency 12311097 TBX19 T-box transcription factor 19 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12311112 PDHX pyruvate dehydrogenase complex component X gene DOID:1059 intellectual disability ISO RGD:1352009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12311112 PDHX pyruvate dehydrogenase complex component X gene DOID:1115 sarcoma treatment ISO RGD:1352009 D RGD:9068941 20220303 RGD PMID:31089155|REF_RGD_ID:151660332 12311112 PDHX pyruvate dehydrogenase complex component X gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:1352009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency 12311112 PDHX pyruvate dehydrogenase complex component X gene DOID:630 genetic disease ISO RGD:1352009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12311112 PDHX pyruvate dehydrogenase complex component X gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:1352009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:25741868|PMID:28492532 12311112 PDHX pyruvate dehydrogenase complex component X gene DOID:9003678 Pyruvate Dehydrogenase E3-Binding Protein Deficiency ISO RGD:1352009 D RGD:7240710 20190315 OMIM 12311112 PDHX pyruvate dehydrogenase complex component X gene DOID:9003678 Pyruvate Dehydrogenase E3-Binding Protein Deficiency ISO RGD:1352009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency PMID:11935326|PMID:12557299|PMID:16566017|PMID:16904023|PMID:17152059|PMID:21914562|PMID:21937992|PMID:25087164|PMID:25326635|PMID:25741868|PMID:28492532|PMID:8229524|PMID:8584393|PMID:9399911|PMID:9467010 12311134 PSMC3 proteasome 26S subunit, ATPase 3 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:732077 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12311134 PSMC3 proteasome 26S subunit, ATPase 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:732077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 12311134 PSMC3 proteasome 26S subunit, ATPase 3 gene DOID:1059 intellectual disability ISO RGD:732077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12311134 PSMC3 proteasome 26S subunit, ATPase 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12311134 PSMC3 proteasome 26S subunit, ATPase 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12311134 PSMC3 proteasome 26S subunit, ATPase 3 gene DOID:630 genetic disease ISO RGD:732077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28689658 12311134 PSMC3 proteasome 26S subunit, ATPase 3 gene DOID:83 cataract ISO RGD:732077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:32500975 12311134 PSMC3 proteasome 26S subunit, ATPase 3 gene DOID:9003595 DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY ISO RGD:732077 D RGD:7240710 20210818 OMIM 12311134 PSMC3 proteasome 26S subunit, ATPase 3 gene DOID:9003595 DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY ISO RGD:732077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, cataract, impaired intellectual development, and polyneuropathy PMID:32500975 12311134 PSMC3 proteasome 26S subunit, ATPase 3 gene DOID:9008086 Developmental Disabilities ISO RGD:732077 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay 12311150 TTLL2 tubulin tyrosine ligase like 2 gene DOID:630 genetic disease ISO RGD:1313087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12311155 ARHGAP18 Rho GTPase activating protein 18 gene DOID:5419 schizophrenia ISO RGD:1312852 D RGD:9068941 20200609 RGD DNA:SNPs:multiple PMID:19065146|REF_RGD_ID:5686816 12311155 ARHGAP18 Rho GTPase activating protein 18 gene DOID:630 genetic disease ISO RGD:1312852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12311174 SKAP2 src kinase associated phosphoprotein 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12311174 SKAP2 src kinase associated phosphoprotein 2 gene DOID:630 genetic disease ISO RGD:1345057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12311174 SKAP2 src kinase associated phosphoprotein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345057 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12311199 COL8A2 collagen type VIII alpha 2 chain gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12311199 COL8A2 collagen type VIII alpha 2 chain gene DOID:0110856 posterior polymorphous corneal dystrophy 2 ISO RGD:1313058 D RGD:7240710 20180130 OMIM 12311199 COL8A2 collagen type VIII alpha 2 chain gene DOID:0110856 posterior polymorphous corneal dystrophy 2 ISO RGD:1313058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 2 PMID:11689488|PMID:15914606|PMID:18024822|PMID:22002996|PMID:23422828|PMID:25741868|PMID:399801 12311199 COL8A2 collagen type VIII alpha 2 chain gene DOID:11555 Fuchs' endothelial dystrophy ISO RGD:1313059 D RGD:9068941 20220825 MouseDO OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523 12311199 COL8A2 collagen type VIII alpha 2 chain gene DOID:630 genetic disease ISO RGD:1313058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12311199 COL8A2 collagen type VIII alpha 2 chain gene DOID:9000137 Corneal Dystrophy, Fuchs' Endothelial, 1 ISO RGD:1313058 D RGD:7240710 20180130 OMIM 12311199 COL8A2 collagen type VIII alpha 2 chain gene DOID:9000137 Corneal Dystrophy, Fuchs' Endothelial, 1 ISO RGD:1313058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 1 PMID:11689488|PMID:15914606|PMID:18024822|PMID:22002996|PMID:23422828|PMID:25741868|PMID:399801 12311207 MEMO1 mediator of cell motility 1 gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1320537 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 PMID:28492532 12311207 MEMO1 mediator of cell motility 1 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1320537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:28492532 12311207 MEMO1 mediator of cell motility 1 gene DOID:630 genetic disease ISO RGD:1320537 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12311207 MEMO1 mediator of cell motility 1 gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:1320537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis PMID:28492532 12311221 PC pyruvate carboxylase gene DOID:1059 intellectual disability ISO RGD:733418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12311221 PC pyruvate carboxylase gene DOID:3312 bipolar disorder ISO RGD:733418 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12311221 PC pyruvate carboxylase gene DOID:3651 pyruvate carboxylase deficiency disease ISO RGD:733418 D RGD:7240710 20180130 OMIM 12311221 PC pyruvate carboxylase gene DOID:3651 pyruvate carboxylase deficiency disease ISO RGD:733418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:12112657|PMID:16199547|PMID:17576681|PMID:18676167|PMID:19306334|PMID:23430542|PMID:23973720|PMID:25058219|PMID:25741868|PMID:27290639|PMID:28492532|PMID:28831725|PMID:30870574|PMID:32581362|PMID:32901917|PMID:9536098|PMID:9585002|PMID:9585612 12311221 PC pyruvate carboxylase gene DOID:630 genetic disease ISO RGD:733418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18676167|PMID:25741868|PMID:28492532|PMID:32581362|PMID:9536098 12311221 PC pyruvate carboxylase gene DOID:8584 Burkitt lymphoma ISO RGD:733418 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 12311221 PC pyruvate carboxylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733418 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 12311221 PC pyruvate carboxylase gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:733418 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12311221 PC pyruvate carboxylase gene DOID:9004872 Congenital Infantile Lactic Acidosis ISO RGD:733418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital lactic acidosis PMID:28492532|PMID:32581362 12311221 PC pyruvate carboxylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12311221 PC pyruvate carboxylase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733418 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12311221 PC pyruvate carboxylase gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:733418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12311221 PC pyruvate carboxylase gene DOID:9008086 Developmental Disabilities ISO RGD:733418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741903 12311221 PC pyruvate carboxylase gene DOID:9352 type 2 diabetes mellitus ISO RGD:733419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12311253 IL27RA interleukin 27 receptor subunit alpha gene DOID:10316 pneumoconiosis ISO RGD:1312815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 12311253 IL27RA interleukin 27 receptor subunit alpha gene DOID:2841 asthma ISO RGD:1312816 D RGD:9068941 20200609 RGD PMID:16081811|REF_RGD_ID:5128496 12311253 IL27RA interleukin 27 receptor subunit alpha gene DOID:2957 pulmonary tuberculosis ISO RGD:1312816 D RGD:9068941 20200609 RGD PMID:15749890|REF_RGD_ID:5128486 12311253 IL27RA interleukin 27 receptor subunit alpha gene DOID:418 systemic scleroderma ISO RGD:1312815 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:20705635|REF_RGD_ID:5128477 12311253 IL27RA interleukin 27 receptor subunit alpha gene DOID:4483 rhinitis ISO RGD:1312816 D RGD:9068941 20200609 RGD PMID:19354069|REF_RGD_ID:5128480 12311253 IL27RA interleukin 27 receptor subunit alpha gene DOID:630 genetic disease ISO RGD:1312815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12311275 OR7D4 olfactory receptor family 7 subfamily D member 4 gene DOID:12849 autistic disorder ISO RGD:1346280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12311275 OR7D4 olfactory receptor family 7 subfamily D member 4 gene DOID:630 genetic disease ISO RGD:1346280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12311278 ZIC4 Zic family member 4 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1316410 D RGD:9068941 20220825 MouseDO OMIM:220200 12311278 ZIC4 Zic family member 4 gene DOID:630 genetic disease ISO RGD:1316409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12311278 ZIC4 Zic family member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1316409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12311287 TMCO6 transmembrane and coiled-coil domains 6 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1605060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12311287 TMCO6 transmembrane and coiled-coil domains 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605060 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12311287 TMCO6 transmembrane and coiled-coil domains 6 gene DOID:0081007 RNASET2-deficient cystic leukoencephalopathy ISO RGD:1605060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystic Leukoencephalopathy PMID:25741868|PMID:27159321|PMID:28857146 12311287 TMCO6 transmembrane and coiled-coil domains 6 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1605060 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 12311287 TMCO6 transmembrane and coiled-coil domains 6 gene DOID:0112076 nuclear type mitochondrial complex I deficiency 13 ISO RGD:1605060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 PMID:18513682|PMID:25741868|PMID:27159321|PMID:28857146|PMID:32154054 12311287 TMCO6 transmembrane and coiled-coil domains 6 gene DOID:3652 Leigh disease ISO RGD:1605060 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:28492532 12311287 TMCO6 transmembrane and coiled-coil domains 6 gene DOID:630 genetic disease ISO RGD:1605060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12311287 TMCO6 transmembrane and coiled-coil domains 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12311287 TMCO6 transmembrane and coiled-coil domains 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605060 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12311309 PLA2G2E phospholipase A2 group IIE gene DOID:0060369 Parkinson's disease 6 ISO RGD:1320041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12311309 PLA2G2E phospholipase A2 group IIE gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1320041 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12311309 PLA2G2E phospholipase A2 group IIE gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1320041 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12311309 PLA2G2E phospholipase A2 group IIE gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1320041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12311309 PLA2G2E phospholipase A2 group IIE gene DOID:630 genetic disease ISO RGD:1320041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12311309 PLA2G2E phospholipase A2 group IIE gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1320041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12311316 LCTL lactase like gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12311316 LCTL lactase like gene DOID:2717 Bloom syndrome ISO RGD:1602287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12311316 LCTL lactase like gene DOID:630 genetic disease ISO RGD:1602287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12311316 LCTL lactase like gene DOID:9256 colorectal cancer ISO RGD:1602287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12311334 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:0050787 juvenile polyposis syndrome ISO RGD:734372 D RGD:7240710 20180130 OMIM 12311334 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:0050787 juvenile polyposis syndrome ISO RGD:734372 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15235019|PMID:16152648|PMID:16199547|PMID:16287957|PMID:16436638|PMID:16525031|PMID:16685657|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18160401|PMID:18178612|PMID:18456716|PMID:18510548|PMID:18823382|PMID:19438883|PMID:20843829|PMID:20845481|PMID:21153778|PMID:21194675|PMID:21203531|PMID:21872883|PMID:22067610|PMID:22138346|PMID:22703879|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25326637|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29522511|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30374176|PMID:30426508|PMID:30613976|PMID:30680046|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:33032550|PMID:33097490|PMID:33110269|PMID:33821390|PMID:36632626|PMID:8397373|PMID:9286463|PMID:9467011|PMID:9536098 12311334 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:0060389 chromosome 10q23 deletion syndrome ISO RGD:734373 D RGD:9068941 20220825 MouseDO OMIM:612242 12311334 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:0080006 bone development disease ISO RGD:734372 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BMPR1A Skeletal Dysplasia Syndrome PMID:25741868|PMID:28492532|PMID:31493347 12311334 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:734372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 12311334 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:0080600 COVID-19 ISO RGD:734372 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12311334 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 ISO RGD:734372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 PMID:25741868|PMID:28492532|PMID:30093976 12311334 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:0111686 hereditary mixed polyposis syndrome 2 ISO RGD:734372 D RGD:7240710 20180130 OMIM 12311334 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:0111686 hereditary mixed polyposis syndrome 2 ISO RGD:734372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 2 PMID:11536076|PMID:12417513|PMID:12676908|PMID:14526373|PMID:15235019|PMID:16199547|PMID:16525031|PMID:17325551|PMID:18178612|PMID:18823382|PMID:20845481|PMID:23399955|PMID:23433720|PMID:24055113|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:2658044|PMID:26580448|PMID:26845104|PMID:26976419|PMID:27146957|PMID:28135145|PMID:28492532|PMID:28660566|PMID:28717660|PMID:30884445|PMID:33032550 12311334 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:14289 Ebstein anomaly ISO RGD:734373 D RGD:9068941 20220825 MouseDO OMIM:224700 12311334 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:1520 colon carcinoma ISO RGD:734372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:12417513|PMID:14526373|PMID:15235019|PMID:18823382|PMID:23399955|PMID:23433720|PMID:24055113|PMID:24728327|PMID:25058500|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26976419|PMID:27146957|PMID:28135145|PMID:28492532|PMID:28660566|PMID:31727138 12311334 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:1612 breast cancer ISO RGD:734372 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:22703879|PMID:23399955|PMID:24033266|PMID:24448499|PMID:24728327|PMID:25186627|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26436109|PMID:26580448|PMID:27153395|PMID:27621404|PMID:28492532 12311334 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:2394 ovarian cancer ISO RGD:734372 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 12311334 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:734373 D RGD:9068941 20220825 MouseDO OMIM:194200 12311334 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:5295 intestinal disease ISO RGD:734372 D RGD:9068941 20200609 RGD hereditary mixed polyposis syndrome-2, HMPS2, OMIM:610069, DNA:deletion:exon PMID:16525031|REF_RGD_ID:1600590 12311334 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:5295 intestinal disease ISO RGD:734372 D RGD:9068941 20200609 RGD juvenile polyposis syndrome, OMIM:174900 , DNA:deletion PMID:16685657|REF_RGD_ID:1600591 12311334 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:5295 intestinal disease ISO RGD:734372 D RGD:9068941 20200609 RGD juvenile polyposis, OMIM:174900, DNA:point mutation:exon:Q239X PMID:11381269|REF_RGD_ID:1600589 12311334 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:6225 Cronkhite-Canada syndrome ISO RGD:734372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal polyposis PMID:22703879|PMID:23399955|PMID:24033266|PMID:24448499|PMID:24728327|PMID:25186627|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26436109|PMID:27153395|PMID:27621404|PMID:28492532 12311334 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:6432 pulmonary hypertension ISO RGD:734372 D RGD:9068941 20200609 RGD PMID:19324947|REF_RGD_ID:5129472 12311334 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:8398 osteoarthritis ISO RGD:734373 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 12311334 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:734372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:24121792|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30029678|PMID:31727138 12311334 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:9002739 Female Urogenital Diseases ISO RGD:734372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 12311334 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15064755|PMID:15235019|PMID:16199547|PMID:16436638|PMID:16705692|PMID:16902903|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18178612|PMID:18823382|PMID:20845481|PMID:21153778|PMID:21203531|PMID:22138346|PMID:22703879|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:26580448|PMID:26659599|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28492532|PMID:28660566|PMID:29212164|PMID:29522511|PMID:29909963|PMID:30029678|PMID:30093976|PMID:30374176|PMID:30426508|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31727138|PMID:31780696|PMID:32068069|PMID:33032550|PMID:8397373|PMID:9536098 12311334 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734372 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15064755|PMID:15235019|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16525031|PMID:16672363|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18178612|PMID:18823382|PMID:18937504|PMID:20845481|PMID:21153778|PMID:21203531|PMID:22138346|PMID:22703879|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25326637|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29522511|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30374176|PMID:30426508|PMID:30680046|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:33032550|PMID:33110269|PMID:33821390|PMID:36632626|PMID:9536098 12311334 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:9007253 Hamartoma ISO RGD:734372 D RGD:9068941 20200609 RGD Cowden-like syndrome, OMIM:158350, DNA:point mutation:exon:A338D PMID:11536076|REF_RGD_ID:734650 12311334 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:9008296 Eye Abnormalities ISO RGD:734372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15804571 12311334 BMPR1A bone morphogenetic protein receptor type 1A gene DOID:9008731 Craniofacial Abnormalities ISO RGD:734372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15804571 12311355 SARS1 seryl-tRNA synthetase 1 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1348583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 12311355 SARS1 seryl-tRNA synthetase 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1348583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12311355 SARS1 seryl-tRNA synthetase 1 gene DOID:10286 prostate carcinoma ISO RGD:1348583 D RGD:9068941 20210212 RGD mRNA:decreased expression:prostate gland (human) PMID:26317032|REF_RGD_ID:41410436 12311355 SARS1 seryl-tRNA synthetase 1 gene DOID:1059 intellectual disability ISO RGD:1348583 D RGD:9068941 20210212 RGD protein:missense mutation:CDS:p.D172N (human) PMID:28236339|REF_RGD_ID:41410435 12311355 SARS1 seryl-tRNA synthetase 1 gene DOID:12849 autistic disorder ISO RGD:1348583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12311355 SARS1 seryl-tRNA synthetase 1 gene DOID:3393 coronary artery disease ISO RGD:1552505 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 12311355 SARS1 seryl-tRNA synthetase 1 gene DOID:9005140 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES ISO RGD:1348583 D RGD:7240710 20190315 OMIM 12311355 SARS1 seryl-tRNA synthetase 1 gene DOID:9005140 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES ISO RGD:1348583 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, ataxia, and seizures PMID:25741868|PMID:28236339|PMID:34570399|PMID:35790048 12311355 SARS1 seryl-tRNA synthetase 1 gene DOID:9005811 HUPRA Syndrome ISO RGD:1348583 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME PMID:25741868|PMID:28492532 12311370 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12311370 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:0060224 atrial fibrillation ISO RGD:733381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20173747|PMID:30061737 12311370 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12311370 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12311370 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:733381 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12311370 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:10283 prostate cancer ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12311370 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:1229 paranoid schizophrenia ISO RGD:733381 D RGD:9068941 20200609 RGD DNA:repeat:exon PMID:12007452|REF_RGD_ID:1358338 12311370 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12311370 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:5419 schizophrenia ISO RGD:733381 D RGD:9068941 20200609 RGD DNA:repeat:exon PMID:9672903|REF_RGD_ID:1358671 12311370 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:5419 schizophrenia onset ISO RGD:733381 D RGD:9068941 20200609 RGD DNA:repeat:exon PMID:12007452|REF_RGD_ID:1358338 12311370 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:5812 MHC class II deficiency ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12311370 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:630 genetic disease ISO RGD:733381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12311370 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:9006063 Zimmermann-Laband Syndrome 3 ISO RGD:733381 D RGD:7240710 20191127 OMIM 12311370 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:9006063 Zimmermann-Laband Syndrome 3 ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zimmermann-laband syndrome 3 PMID:24033266|PMID:25741868|PMID:31155282 12311370 KCNN3 potassium calcium-activated channel subfamily N member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12311396 PHPT1 phosphohistidine phosphatase 1 gene DOID:0050777 Joubert syndrome ISO RGD:1322769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12311396 PHPT1 phosphohistidine phosphatase 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1322769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12311396 PHPT1 phosphohistidine phosphatase 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1322769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12311396 PHPT1 phosphohistidine phosphatase 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1322769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12311396 PHPT1 phosphohistidine phosphatase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1322769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12311396 PHPT1 phosphohistidine phosphatase 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1322769 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12311396 PHPT1 phosphohistidine phosphatase 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1322769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12311396 PHPT1 phosphohistidine phosphatase 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1322769 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12311396 PHPT1 phosphohistidine phosphatase 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1322769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12311396 PHPT1 phosphohistidine phosphatase 1 gene DOID:3652 Leigh disease ISO RGD:1322769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12311396 PHPT1 phosphohistidine phosphatase 1 gene DOID:630 genetic disease ISO RGD:1322769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12311396 PHPT1 phosphohistidine phosphatase 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1322769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12311403 ODF2 outer dense fiber of sperm tails 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731998 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12311403 ODF2 outer dense fiber of sperm tails 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:731998 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12311403 ODF2 outer dense fiber of sperm tails 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731998 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12311403 ODF2 outer dense fiber of sperm tails 2 gene DOID:630 genetic disease ISO RGD:731998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12311471 PPP1R2C PPP1R2C family member C gene DOID:12849 autistic disorder ISO RGD:1345869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12311476 TROAP trophinin associated protein gene DOID:0080600 COVID-19 ISO RGD:1315734 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12311476 TROAP trophinin associated protein gene DOID:630 genetic disease ISO RGD:1315734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12311476 TROAP trophinin associated protein gene DOID:684 hepatocellular carcinoma ISO RGD:1315734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12311495 RAB15 RAB15, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1351715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12311506 RASGRP2 RAS guanyl releasing protein 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12311506 RASGRP2 RAS guanyl releasing protein 2 gene DOID:0111051 platelet-type bleeding disorder 18 ISO RGD:1323188 D RGD:7240710 20180130 OMIM 12311506 RASGRP2 RAS guanyl releasing protein 2 gene DOID:0111051 platelet-type bleeding disorder 18 ISO RGD:1323188 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 18 PMID:24958846|PMID:25741868|PMID:27235135|PMID:28983057|PMID:31064749|PMID:32581362|PMID:34355501 12311506 RASGRP2 RAS guanyl releasing protein 2 gene DOID:1059 intellectual disability ISO RGD:1323188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12311506 RASGRP2 RAS guanyl releasing protein 2 gene DOID:2213 hemorrhagic disease ISO RGD:1323188 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28983057|PMID:31064749 12311506 RASGRP2 RAS guanyl releasing protein 2 gene DOID:3070 high grade glioma ISO RGD:1323188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12311506 RASGRP2 RAS guanyl releasing protein 2 gene DOID:630 genetic disease ISO RGD:1323188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:0060067 Pearson syndrome ISO RGD:1344890 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pearson syndrome PMID:32906214|PMID:33633954 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:0080066 autosomal recessive spinocerebellar ataxia 20 ISO RGD:1344890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 20 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:0080198 infantile histiocytoid cardiomyopathy ISO RGD:1344890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Foamy myocardial transformation of infancy PMID:10960495 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:10003 sensorineural hearing loss ISO RGD:1344890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:28027978 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:11054 urinary bladder cancer ISO RGD:1344890 D RGD:9068941 20200609 RGD DNA:deletion:cds PMID:18245469|REF_RGD_ID:2298953 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:11832 visual epilepsy ISO RGD:620081 D RGD:9068941 20200609 RGD protein:decreased expression:mitochondrion, brain PMID:15698621|REF_RGD_ID:2298956 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:12930 dilated cardiomyopathy ISO RGD:1344890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24088041|PMID:26633545 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:14791 Leber congenital amaurosis ISO RGD:1344890 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber's disease PMID:11464242|PMID:11601507|PMID:23418307|PMID:32906214 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:1826 epilepsy ISO RGD:1344890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28027978 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:3526 cerebral infarction ISO RGD:1344890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ischemic stroke 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:3652 Leigh disease ISO RGD:1344890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:10329023|PMID:10453733|PMID:10894993|PMID:10960495|PMID:11047755|PMID:11891837|PMID:12150954|PMID:12905068|PMID:13298683|PMID:17003408|PMID:1732158|PMID:17637808|PMID:1764087|PMID:19062322|PMID:19555656|PMID:20301353|PMID:22241583|PMID:24667782|PMID:25741868|PMID:26566881|PMID:28027978|PMID:30143805|PMID:7901141|PMID:8240104|PMID:8321540|PMID:8755941|PMID:9806551 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:3652 Leigh disease ISO RGD:1344890 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:10329023|PMID:10453733|PMID:10894993|PMID:10960495|PMID:11047755|PMID:11891837|PMID:12150954|PMID:12905068|PMID:13298683|PMID:17003408|PMID:1732158|PMID:17637808|PMID:1764087|PMID:19062322|PMID:19555656|PMID:20301353|PMID:22241583|PMID:24667782|PMID:25741868|PMID:26566881|PMID:28027978|PMID:30143805|PMID:32906214|PMID:7901141|PMID:8240104|PMID:8321540|PMID:8755941|PMID:9806551 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:3687 MELAS syndrome ISO RGD:1344890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:4001 ovarian carcinoma ISO RGD:1344890 D RGD:9068941 20200609 RGD DNA:polymorphisms, nonsense mutation PMID:11507041|REF_RGD_ID:2298954 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:699 mitochondrial myopathy ISO RGD:1344890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial Myopathies PMID:28027978 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:700 mitochondrial metabolism disease ISO RGD:1344890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:700 mitochondrial metabolism disease ISO RGD:1344890 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder PMID:11601507|PMID:11891837|PMID:23418307|PMID:32906214 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1344890 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy PMID:11464242|PMID:11601507|PMID:1732158|PMID:1764087|PMID:20301353|PMID:23418307|PMID:25741868|PMID:30143805|PMID:32906214|PMID:7901141|PMID:8240104|PMID:8321540|PMID:8755941 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:7997 thyrotoxicosis ISO RGD:620081 D RGD:9068941 20200609 RGD protein:decreased expression:mitochondrion, brain, kidney, liver PMID:6215275|REF_RGD_ID:2298979 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1344890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalomyopathy PMID:11047755 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1344890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:10960495|PMID:24667782 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:9000777 Mitochondrial Cardiomyopathy ISO RGD:1344890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exercise intolerance, cardiomyopathy, and septooptic dysplasia PMID:11891837 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:620081 D RGD:9068941 20200609 RGD protein:increased expression:mitochondrion, liver PMID:2836123|REF_RGD_ID:2298972 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:9002762 Ovarian Neoplasms ISO RGD:1344890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:24667782|PMID:25741868 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:9003594 Mitochondrial Cytopathy ISO RGD:1344890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial cytopathy PMID:28027978 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:9004009 Reperfusion Injury ISO RGD:620081 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:7692737|REF_RGD_ID:2298967 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:9004484 Sepsis ISO RGD:620081 D RGD:9068941 20200609 RGD protein:decreased expression:mitochondrion, skeletal muscle PMID:6128308|REF_RGD_ID:2298978 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:9004538 Hearing Loss ISO RGD:1344890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28027978 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:9004866 Ataxia ISO RGD:1344890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyssynergia PMID:28027978 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:9004989 Protein Deficiency ISO RGD:620081 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:5954822|REF_RGD_ID:2298983 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620081 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:15126286|REF_RGD_ID:1578536 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:9006878 Exercise Intolerance ISO RGD:1344890 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Exercise intolerance PMID:10502593|PMID:11464242|PMID:11506394|PMID:11782982|PMID:14520667|PMID:8186719|PMID:8910895|PMID:8988236 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:9007480 Hyperoxia ISO RGD:620081 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:18481000|REF_RGD_ID:2298955 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:9007527 Mitochondrial Myopathy, Infantile, Transient ISO RGD:1344890 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient PMID:10502593|PMID:11464242|PMID:11506394|PMID:11601507|PMID:11782982|PMID:14520667|PMID:23418307|PMID:32906214|PMID:8186719|PMID:8910895|PMID:8988236 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:9007653 Multiple Abnormalities ISO RGD:1344890 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multisystem disorder PMID:11601507|PMID:23418307|PMID:32906214 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:9007730 Burns ISO RGD:1344890 D RGD:9068941 20200609 RGD PMID:3779466|REF_RGD_ID:2298976 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:9007730 Burns ISO RGD:620081 D RGD:9068941 20200609 RGD PMID:3779466|REF_RGD_ID:2298976 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:9007730 Burns ISO RGD:736618 D RGD:9068941 20200609 RGD PMID:3779466|REF_RGD_ID:2298976 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:9008952 Breast Cancer, Familial ISO RGD:1344890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:9256 colorectal cancer ISO RGD:1344890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:13298683|PMID:9806551 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:9352 type 2 diabetes mellitus ISO RGD:620081 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet PMID:7588317|REF_RGD_ID:2298962 12311535 MT-CYB mitochondrially encoded cytochrome b gene DOID:9970 obesity ISO RGD:1344890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:12905068|PMID:25741868 12311536 LOC100682542 60S ribosomal protein L39 gene DOID:0060575 3MC syndrome 1 ISO RGD:1347635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 12311536 LOC100682542 60S ribosomal protein L39 gene DOID:630 genetic disease ISO RGD:1347635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12311556 PODN podocan gene DOID:10283 prostate cancer ISO RGD:1320634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12311556 PODN podocan gene DOID:630 genetic disease ISO RGD:1320634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12311572 STMND1 stathmin domain containing 1 gene DOID:630 genetic disease ISO RGD:7205150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12311592 CHST9 carbohydrate sulfotransferase 9 gene DOID:1059 intellectual disability ISO RGD:1316417 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12311592 CHST9 carbohydrate sulfotransferase 9 gene DOID:630 genetic disease ISO RGD:1316417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12311622 SLC35D2 solute carrier family 35 member D2 gene DOID:1059 intellectual disability ISO RGD:1319900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12311622 SLC35D2 solute carrier family 35 member D2 gene DOID:630 genetic disease ISO RGD:1319900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12311729 LPIN1 lipin 1 gene DOID:11981 morbid obesity ISO RGD:1316957 D RGD:9068941 20200609 RGD PMID:17563064|REF_RGD_ID:1641822 12311729 LPIN1 lipin 1 gene DOID:5419 schizophrenia ISO RGD:1316957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12311729 LPIN1 lipin 1 gene DOID:630 genetic disease ISO RGD:1316957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12311729 LPIN1 lipin 1 gene DOID:783 end stage renal disease ISO RGD:1307646 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:14718385|REF_RGD_ID:1641826 12311729 LPIN1 lipin 1 gene DOID:811 lipodystrophy ISO RGD:1316958 D RGD:9068941 20220825 MouseDO OMIM:608709 12311729 LPIN1 lipin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307646 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:14718385|REF_RGD_ID:1641826 12311729 LPIN1 lipin 1 gene DOID:9007346 Cachexia ISO RGD:1307646 D RGD:9068941 20200609 RGD associated with Carcinoma, Hepatocellular;mRNA:increased expression:skeletal muscle PMID:14718385|REF_RGD_ID:1641826 12311729 LPIN1 lipin 1 gene DOID:9007692 Insulin Resistance ISO RGD:1316957 D RGD:9068941 20200609 RGD PMID:17563064|REF_RGD_ID:1641822 12311729 LPIN1 lipin 1 gene DOID:9007777 Acute Recurrent Myoglobinuria, Autosomal Recessive ISO RGD:1316957 D RGD:7240710 20180130 OMIM 12311729 LPIN1 lipin 1 gene DOID:9007777 Acute Recurrent Myoglobinuria, Autosomal Recessive ISO RGD:1316957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute Recurrent Myoglobinuria | ClinVar Annotator: match by term: Myoglobinuria, acute recurrent, autosomal recessive PMID:16199547|PMID:17576681|PMID:18591397|PMID:18817903|PMID:20583302|PMID:22481384|PMID:24033266|PMID:25741868|PMID:26111941|PMID:28492532|PMID:32041611|PMID:9536098 12311774 SERPINA1 serpin family A member 1 gene DOID:0060186 chemical colitis treatment ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:23835442|REF_RGD_ID:14695050 12311774 SERPINA1 serpin family A member 1 gene DOID:0060189 ileitis treatment ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:23835442|REF_RGD_ID:14695050 12311774 SERPINA1 serpin family A member 1 gene DOID:0070313 thiamine deficiency disease ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659342 12311774 SERPINA1 serpin family A member 1 gene DOID:0080054 achondrogenesis type IA ISO RGD:1349357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12311774 SERPINA1 serpin family A member 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1349357 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 12311774 SERPINA1 serpin family A member 1 gene DOID:0080600 COVID-19 ISO RGD:1349357 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease (COVID-19) PMID:10194472|PMID:1082356|PMID:12034572|PMID:14522813|PMID:15115878|PMID:15454649|PMID:15711957|PMID:15978931|PMID:15994391|PMID:1608473|PMID:16608528|PMID:17964515|PMID:18187064|PMID:18294358|PMID:18340647|PMID:18414213|PMID:18515255|PMID:18565211|PMID:18566672|PMID:18682522|PMID:1889260|PMID:19083091|PMID:19398551|PMID:19444872|PMID:19738092|PMID:19956452|PMID:20301692|PMID:20981092|PMID:21067581|PMID:21228398|PMID:21637600|PMID:21960536|PMID:22426792|PMID:22735536|PMID:22912729|PMID:22933512|PMID:22971141|PMID:22975760|PMID:2339709|PMID:23484243|PMID:23632999|PMID:23837941|PMID:23858502|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24328305|PMID:24428606|PMID:24518491|PMID:24592811|PMID:25181470|PMID:25454901|PMID:25637381|PMID:2567291|PMID:25738741|PMID:25741868|PMID:2575668|PMID:25966443|PMID:26141072|PMID:26243289|PMID:26304913|PMID:26310624|PMID:26647313|PMID:26672964|PMID:26771213|PMID:26831755|PMID:2696185|PMID:26987331|PMID:2700304|PMID:27153395|PMID:27246852|PMID:27465791|PMID:27535533|PMID:27959697|PMID:28146470|PMID:28492532|PMID:2904702|PMID:29083408|PMID:29153744|PMID:29232161|PMID:29431110|PMID:29618937|PMID:29644095|PMID:29882371|PMID:2989709|PMID:30068317|PMID:30068662|PMID:301355|PMID:30254761|PMID:30585791|PMID:30739910|PMID:31028937|PMID:31216405|PMID:31447099|PMID:31564432|PMID:31980526|PMID:32087139|PMID:3264419|PMID:32699024|PMID:33144682|PMID:33726816|PMID:34408828|PMID:34408829|PMID:3484754|PMID:3500183|PMID:3537008|PMID:3875547|PMID:6093867|PMID:6306478|PMID:6602622|PMID:7045697|PMID:7227484|PMID:8970361|PMID:9041988|PMID:9195389|PMID:9569237 12311774 SERPINA1 serpin family A member 1 gene DOID:0080984 X-linked intellectual developmental disorder 109 ISO RGD:1349357 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 PMID:12034572|PMID:14522813|PMID:15115878|PMID:15454649|PMID:15978931|PMID:1608473|PMID:17964515|PMID:18294358|PMID:18340647|PMID:18414213|PMID:18515255|PMID:18682522|PMID:1889260|PMID:19083091|PMID:19398551|PMID:19444872|PMID:19738092|PMID:20301692|PMID:20981092|PMID:21067581|PMID:21228398|PMID:21637600|PMID:21960536|PMID:22426792|PMID:22735536|PMID:22912729|PMID:22933512|PMID:22971141|PMID:22975760|PMID:2339709|PMID:23484243|PMID:23632999|PMID:23837941|PMID:23858502|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24328305|PMID:24428606|PMID:24518491|PMID:24592811|PMID:25181470|PMID:25637381|PMID:25738741|PMID:25741868|PMID:2575668|PMID:25966443|PMID:26243289|PMID:26304913|PMID:26310624|PMID:26647313|PMID:26672964|PMID:26771213|PMID:26831755|PMID:2696185|PMID:26987331|PMID:2700304|PMID:27153395|PMID:27246852|PMID:27535533|PMID:27959697|PMID:28146470|PMID:28492532|PMID:2904702|PMID:29083408|PMID:29153744|PMID:29431110|PMID:29618937|PMID:29644095|PMID:29882371|PMID:2989709|PMID:30068317|PMID:30068662|PMID:30254761|PMID:30739910|PMID:31028937|PMID:31216405|PMID:31447099|PMID:31564432|PMID:31980526|PMID:32087139|PMID:3264419|PMID:32699024|PMID:33144682|PMID:33726816|PMID:34408828|PMID:34408829|PMID:3484754|PMID:3500183|PMID:3537008|PMID:3875547|PMID:6306478|PMID:7045697|PMID:7227484|PMID:8970361|PMID:9041988|PMID:9195389|PMID:9569237 12311774 SERPINA1 serpin family A member 1 gene DOID:0081063 DICER1 syndrome ISO RGD:1349357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 12311774 SERPINA1 serpin family A member 1 gene DOID:10320 asbestosis ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12368052 12311774 SERPINA1 serpin family A member 1 gene DOID:10591 pre-eclampsia ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:1852102|REF_RGD_ID:1643155 12311774 SERPINA1 serpin family A member 1 gene DOID:10754 otitis media treatment ISO RGD:9014073 D RGD:9068941 20200609 RGD PMID:2459981|PMID:2473673|REF_RGD_ID:11553864|REF_RGD_ID:11553918 12311774 SERPINA1 serpin family A member 1 gene DOID:10763 hypertension ISO RGD:1349357 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:10353322|REF_RGD_ID:1643147 12311774 SERPINA1 serpin family A member 1 gene DOID:1289 neurodegenerative disease ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659342 12311774 SERPINA1 serpin family A member 1 gene DOID:13372 alpha 1-antitrypsin deficiency ISO RGD:1349357 D RGD:7240710 20180130 OMIM 12311774 SERPINA1 serpin family A member 1 gene DOID:13372 alpha 1-antitrypsin deficiency ISO RGD:1349357 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: AAT deficiency | ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency | ClinVar Annotator: match by term: Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation | ClinVar Annotator: match by term: PI M(HEERLEN) | ClinVar Annotator: match by term: PI NULL(PROCIDA) | ClinVar Annotator: match by term: PI Q0(BELLINGHAM) | ClinVar Annotator: match by term: PI Q0(CARDIFF) | ClinVar Annotator: match by term: PI Q0(GRANITE FALLS) | ClinVar Annotator: match by term: PI Q0(LUDWIGSHAFEN) | ClinVar Annotator: match by term: PI Q0(NEWPORT) | ClinVar Annotator: match by term: PI S(IIYAMA) | ClinVar Annotator: match by term: PI W(BETHESDA) | ClinVar Annotator: match by term: PI Z(BRISTOL) PMID:10194472|PMID:10234508|PMID:1082356|PMID:10878477|PMID:10954248|PMID:11214903|PMID:11334395|PMID:11474657|PMID:11524735|PMID:12034572|PMID:12220457|PMID:12935698|PMID:14522813|PMID:14551891|PMID:14767073|PMID:14985567|PMID:1504305|PMID:15115878|PMID:15454649|PMID:15486938|PMID:1552539|PMID:1569192|PMID:15711957|PMID:15744045|PMID:15949707|PMID:15978931|PMID:15994391|PMID:1608473|PMID:16199547|PMID:16608528|PMID:1730596|PMID:17576681|PMID:17906067|PMID:17964515|PMID:18024524|PMID:18187064|PMID:18294358|PMID:18340647|PMID:18353624|PMID:18414213|PMID:18515255|PMID:18565211|PMID:18566672|PMID:18682522|PMID:1889260|PMID:1905728|PMID:19083091|PMID:19280649|PMID:19398551|PMID:19437508|PMID:19444872|PMID:19654085|PMID:1967187|PMID:1969347|PMID:19738092|PMID:1975477|PMID:19956452|PMID:20301692|PMID:2035534|PMID:20453271|PMID:20981092|PMID:21067581|PMID:21228398|PMID:21457231|PMID:21474916|PMID:21637596|PMID:21637600|PMID:21752289|PMID:2185272|PMID:21960536|PMID:22008137|PMID:22016686|PMID:22078084|PMID:22215832|PMID:2227940|PMID:2240842|PMID:22426792|PMID:2254451|PMID:22723858|PMID:22735536|PMID:22912357|PMID:22912729|PMID:22933512|PMID:22971141|PMID:22975760|PMID:2309708|PMID:2339709|PMID:23484243|PMID:23632999|PMID:23837941|PMID:23858502|PMID:2390072|PMID:23907436|PMID:2394452|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24328305|PMID:24428606|PMID:24518491|PMID:24592811|PMID:24713750|PMID:2481421|PMID:24969485|PMID:25098359|PMID:25181470|PMID:25391508|PMID:2539391|PMID:25425243|PMID:25454901|PMID:25637381|PMID:2567291|PMID:25738741|PMID:25741868|PMID:2575668|PMID:25966443|PMID:2606478|PMID:26141072|PMID:26243289|PMID:26304913|PMID:26310624|PMID:26321041|PMID:2642408|PMID:26604020|PMID:26647313|PMID:26672964|PMID:26771213|PMID:26831755|PMID:2696185|PMID:26987331|PMID:2700304|PMID:27153395|PMID:27246852|PMID:27296815|PMID:27465791|PMID:27535533|PMID:2784123|PMID:2787118|PMID:27959697|PMID:2807278|PMID:28146470|PMID:2831367|PMID:28492532|PMID:2901226|PMID:2904702|PMID:29083408|PMID:29153744|PMID:29232161|PMID:29431110|PMID:29618937|PMID:29644095|PMID:29882371|PMID:2989709|PMID:30068317|PMID:30068662|PMID:301355|PMID:30254761|PMID:3038256|PMID:3040726|PMID:30585791|PMID:30739910|PMID:31028937|PMID:31216405|PMID:31307431|PMID:31447099|PMID:31564432|PMID:31980526|PMID:32087139|PMID:32482783|PMID:3257351|PMID:3262617|PMID:3264419|PMID:32699024|PMID:33144682|PMID:33726816|PMID:34408828|PMID:34408829|PMID:3484754|PMID:3484755|PMID:3484756|PMID:3491072|PMID:3496639|PMID:3500183|PMID:3527273|PMID:3537008|PMID:3875547|PMID:412531|PMID:6093867|PMID:6306478|PMID:6602622|PMID:6604220|PMID:7045697|PMID:7227484|PMID:7706910|PMID:7977369|PMID:7980208|PMID:8182727|PMID:8340361|PMID:8358043|PMID:8364536|PMID:8364590|PMID:8499914|PMID:8520784|PMID:8912354|PMID:8970361|PMID:9041988|PMID:9070606|PMID:9195389|PMID:9459000|PMID:9536098|PMID:9569237|PMID:9635295 12311774 SERPINA1 serpin family A member 1 gene DOID:13372 alpha 1-antitrypsin deficiency treatment ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:29641323|REF_RGD_ID:14695049 12311774 SERPINA1 serpin family A member 1 gene DOID:13580 cholestasis ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4117022 12311774 SERPINA1 serpin family A member 1 gene DOID:1485 cystic fibrosis ISO RGD:1349357 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:10194472|PMID:1082356|PMID:15711957|PMID:15978931|PMID:15994391|PMID:16608528|PMID:18187064|PMID:18565211|PMID:18566672|PMID:1889260|PMID:19956452|PMID:20301692|PMID:20981092|PMID:22426792|PMID:22933512|PMID:22975760|PMID:23632999|PMID:23837941|PMID:24033266|PMID:24055113|PMID:25454901|PMID:25637381|PMID:2567291|PMID:25741868|PMID:26141072|PMID:26672964|PMID:26831755|PMID:27153395|PMID:27465791|PMID:27535533|PMID:27959697|PMID:28492532|PMID:29232161|PMID:29882371|PMID:301355|PMID:30585791|PMID:31447099|PMID:31980526|PMID:6093867|PMID:6602622|PMID:8970361 12311774 SERPINA1 serpin family A member 1 gene DOID:1525 nodular nonsuppurative panniculitis ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3259592|PMID:6982619 12311774 SERPINA1 serpin family A member 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1349357 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 12311774 SERPINA1 serpin family A member 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:2323846|REF_RGD_ID:2324960 12311774 SERPINA1 serpin family A member 1 gene DOID:2030 anxiety disorder ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659342 12311774 SERPINA1 serpin family A member 1 gene DOID:2349 arteriosclerosis ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12692006 12311774 SERPINA1 serpin family A member 1 gene DOID:2349 arteriosclerosis disease_progression ISO RGD:1349357 D RGD:9068941 20200609 RGD DNA, protein:polymorphism, decreased expression: :p.A213V, 11478A>G, p.E264V, p.E342K (human) PMID:12692006|REF_RGD_ID:1643145 12311774 SERPINA1 serpin family A member 1 gene DOID:2841 asthma ISO RGD:3326 D RGD:9068941 20200609 RGD Fisher rats, shown to exhibit hyperactive airway responses at 14 days of age, had higher transcript and protein levels of Serpina1 than same age Brown Norway rats. PMID:20118217|REF_RGD_ID:5131869 12311774 SERPINA1 serpin family A member 1 gene DOID:2913 acute pancreatitis ISO RGD:1349357 D RGD:9068941 20200609 RGD associated with fatty liver disease; protein:decreased expression:serum: PMID:26634430|REF_RGD_ID:11552763 12311774 SERPINA1 serpin family A member 1 gene DOID:2913 acute pancreatitis ISO RGD:3326 D RGD:9068941 20200609 RGD associated with fatty liver disease; protein:decreased expression:serum: PMID:26634430|REF_RGD_ID:11552763 12311774 SERPINA1 serpin family A member 1 gene DOID:299 adenocarcinoma ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 12311774 SERPINA1 serpin family A member 1 gene DOID:3021 acute kidney failure ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12311774 SERPINA1 serpin family A member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1349357 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease | ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, severe early-onset PMID:10194472|PMID:1082356|PMID:12034572|PMID:14522813|PMID:15115878|PMID:15454649|PMID:15711957|PMID:15978931|PMID:15994391|PMID:1608473|PMID:16608528|PMID:17964515|PMID:18187064|PMID:18294358|PMID:18340647|PMID:18414213|PMID:18515255|PMID:18565211|PMID:18566672|PMID:18682522|PMID:1889260|PMID:19083091|PMID:19398551|PMID:19444872|PMID:19738092|PMID:19956452|PMID:20301692|PMID:20981092|PMID:21067581|PMID:21228398|PMID:21637600|PMID:21960536|PMID:22426792|PMID:22735536|PMID:22912729|PMID:22933512|PMID:22971141|PMID:22975760|PMID:2339709|PMID:23484243|PMID:23632999|PMID:23837941|PMID:23858502|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24328305|PMID:24428606|PMID:24518491|PMID:24592811|PMID:25181470|PMID:25454901|PMID:25637381|PMID:2567291|PMID:25738741|PMID:25741868|PMID:2575668|PMID:25966443|PMID:26141072|PMID:26243289|PMID:26304913|PMID:26310624|PMID:26647313|PMID:26672964|PMID:26771213|PMID:26831755|PMID:2696185|PMID:26987331|PMID:2700304|PMID:27153395|PMID:27246852|PMID:27465791|PMID:27535533|PMID:27959697|PMID:28146470|PMID:28492532|PMID:2904702|PMID:29083408|PMID:29153744|PMID:29232161|PMID:29431110|PMID:29618937|PMID:29644095|PMID:29882371|PMID:2989709|PMID:30068317|PMID:30068662|PMID:301355|PMID:30254761|PMID:30585791|PMID:30739910|PMID:31028937|PMID:31216405|PMID:31447099|PMID:31564432|PMID:31980526|PMID:32087139|PMID:3264419|PMID:32699024|PMID:33144682|PMID:33726816|PMID:34408828|PMID:34408829|PMID:3484754|PMID:3500183|PMID:3537008|PMID:3875547|PMID:6093867|PMID:6306478|PMID:6602622|PMID:7045697|PMID:7227484|PMID:8970361|PMID:9041988|PMID:9195389|PMID:9569237 12311774 SERPINA1 serpin family A member 1 gene DOID:3312 bipolar disorder ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659342 12311774 SERPINA1 serpin family A member 1 gene DOID:3393 coronary artery disease ISO RGD:1349357 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:7832094|REF_RGD_ID:1643149 12311774 SERPINA1 serpin family A member 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1349357 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:12488200|REF_RGD_ID:2317811 12311774 SERPINA1 serpin family A member 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:72955 12311774 SERPINA1 serpin family A member 1 gene DOID:409 liver disease ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17006946|PMID:17659342|PMID:3485248|PMID:4117996|PMID:5095241|PMID:6600583 12311774 SERPINA1 serpin family A member 1 gene DOID:409 liver disease ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:19738092|REF_RGD_ID:4892128 12311774 SERPINA1 serpin family A member 1 gene DOID:409 liver disease susceptibility ISO RGD:1349357 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.Glu342Lys(human) PMID:19961268|REF_RGD_ID:14695056 12311774 SERPINA1 serpin family A member 1 gene DOID:446 primary hyperaldosteronism ISO RGD:3326 D RGD:9068941 20200609 RGD PMID:15475529|REF_RGD_ID:1643158 12311774 SERPINA1 serpin family A member 1 gene DOID:4989 pancreatitis ISO RGD:3326 D RGD:9068941 20200609 RGD PMID:12770935|REF_RGD_ID:1641805 12311774 SERPINA1 serpin family A member 1 gene DOID:5082 liver cirrhosis ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20511674|PMID:25579632|PMID:3485248 12311774 SERPINA1 serpin family A member 1 gene DOID:5082 liver cirrhosis ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:20522742|REF_RGD_ID:14695525 12311774 SERPINA1 serpin family A member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17448989 12311774 SERPINA1 serpin family A member 1 gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:1349357 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.Glu264Val(human) PMID:24122823|REF_RGD_ID:14695057 12311774 SERPINA1 serpin family A member 1 gene DOID:576 proteinuria ISO RGD:3326 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:11239198|REF_RGD_ID:1625796 12311774 SERPINA1 serpin family A member 1 gene DOID:630 genetic disease ISO RGD:1349357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10194472|PMID:10234508|PMID:1082356|PMID:12034572|PMID:14522813|PMID:14551891|PMID:14985567|PMID:15115878|PMID:15454649|PMID:1552539|PMID:15711957|PMID:15978931|PMID:15994391|PMID:1608473|PMID:16608528|PMID:17906067|PMID:17964515|PMID:18024524|PMID:18187064|PMID:18294358|PMID:18340647|PMID:18414213|PMID:18515255|PMID:18565211|PMID:18566672|PMID:18682522|PMID:1889260|PMID:19083091|PMID:19398551|PMID:19444872|PMID:19738092|PMID:19956452|PMID:20301692|PMID:2035534|PMID:20981092|PMID:21067581|PMID:21228398|PMID:21637596|PMID:21637600|PMID:21960536|PMID:22008137|PMID:22078084|PMID:22426792|PMID:22735536|PMID:22912729|PMID:22933512|PMID:22971141|PMID:22975760|PMID:2339709|PMID:23484243|PMID:23632999|PMID:23837941|PMID:23858502|PMID:2394452|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24328305|PMID:24428606|PMID:24518491|PMID:24592811|PMID:24713750|PMID:24969485|PMID:25098359|PMID:25181470|PMID:25391508|PMID:25454901|PMID:25637381|PMID:2567291|PMID:25738741|PMID:25741868|PMID:2575668|PMID:25966443|PMID:26141072|PMID:26243289|PMID:26304913|PMID:26310624|PMID:26321041|PMID:26647313|PMID:26672964|PMID:26771213|PMID:26831755|PMID:2696185|PMID:26987331|PMID:2700304|PMID:27153395|PMID:27246852|PMID:27296815|PMID:27465791|PMID:27535533|PMID:2784123|PMID:27959697|PMID:28146470|PMID:28492532|PMID:2901226|PMID:2904702|PMID:29083408|PMID:29153744|PMID:29232161|PMID:29431110|PMID:29618937|PMID:29644095|PMID:29882371|PMID:2989709|PMID:30068317|PMID:30068662|PMID:301355|PMID:30254761|PMID:3038256|PMID:30585791|PMID:30739910|PMID:31028937|PMID:31216405|PMID:31447099|PMID:31564432|PMID:31980526|PMID:32087139|PMID:3264419|PMID:32699024|PMID:33144682|PMID:33726816|PMID:34408828|PMID:34408829|PMID:3484754|PMID:3491072|PMID:3500183|PMID:3537008|PMID:3875547|PMID:6093867|PMID:6306478|PMID:6602622|PMID:7045697|PMID:7227484|PMID:8912354|PMID:8970361|PMID:9041988|PMID:9195389|PMID:9569237 12311774 SERPINA1 serpin family A member 1 gene DOID:6432 pulmonary hypertension ISO RGD:1349357 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17444595|REF_RGD_ID:1643144 12311774 SERPINA1 serpin family A member 1 gene DOID:6432 pulmonary hypertension ISO RGD:3326 D RGD:9068941 20200609 RGD PMID:1836309|REF_RGD_ID:1643154 12311774 SERPINA1 serpin family A member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284|PMID:6258829 12311774 SERPINA1 serpin family A member 1 gene DOID:8398 osteoarthritis ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:20434574|REF_RGD_ID:2324964 12311774 SERPINA1 serpin family A member 1 gene DOID:8398 osteoarthritis ISO RGD:3326 D RGD:9068941 20200609 RGD PMID:20434574|REF_RGD_ID:2324964 12311774 SERPINA1 serpin family A member 1 gene DOID:850 lung disease ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659342 12311774 SERPINA1 serpin family A member 1 gene DOID:865 vasculitis ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1684994 12311774 SERPINA1 serpin family A member 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 12311774 SERPINA1 serpin family A member 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1349357 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.321C>A(human) PMID:28947017|REF_RGD_ID:14695046 12311774 SERPINA1 serpin family A member 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 12311774 SERPINA1 serpin family A member 1 gene DOID:9001205 Experimental Autoimmune Orchitis ISO RGD:3326 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16092147|REF_RGD_ID:1624236 12311774 SERPINA1 serpin family A member 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:3326 D RGD:9068941 20200609 RGD PMID:10569800|REF_RGD_ID:1626391 12311774 SERPINA1 serpin family A member 1 gene DOID:9002884 Emphysema ISO RGD:1349357 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PI I | ClinVar Annotator: match by term: PI M(MINERAL SPRINGS) | ClinVar Annotator: match by term: PI M(PROCIDA) | ClinVar Annotator: match by term: PI S PMID:10194472|PMID:1082356|PMID:14767073|PMID:14985567|PMID:1504305|PMID:15711957|PMID:15978931|PMID:15994391|PMID:16608528|PMID:17964515|PMID:18024524|PMID:18187064|PMID:18515255|PMID:18565211|PMID:18566672|PMID:1889260|PMID:1967187|PMID:19956452|PMID:20301692|PMID:20981092|PMID:21752289|PMID:22426792|PMID:22912357|PMID:22933512|PMID:22975760|PMID:23632999|PMID:23837941|PMID:24033266|PMID:24055113|PMID:24713750|PMID:25391508|PMID:25454901|PMID:25637381|PMID:2567291|PMID:25741868|PMID:2606478|PMID:26141072|PMID:26647313|PMID:26672964|PMID:26831755|PMID:2696185|PMID:26987331|PMID:27153395|PMID:27296815|PMID:27465791|PMID:27535533|PMID:27959697|PMID:28492532|PMID:29232161|PMID:29882371|PMID:301355|PMID:30585791|PMID:31447099|PMID:31980526|PMID:32482783|PMID:3262617|PMID:3496639|PMID:6093867|PMID:6602622|PMID:8970361|PMID:9635295 12311774 SERPINA1 serpin family A member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349357 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:12034572|PMID:14522813|PMID:15115878|PMID:15454649|PMID:15978931|PMID:1608473|PMID:17964515|PMID:18294358|PMID:18340647|PMID:18414213|PMID:18515255|PMID:18682522|PMID:1889260|PMID:19083091|PMID:19398551|PMID:19444872|PMID:19738092|PMID:20301692|PMID:20981092|PMID:21067581|PMID:21228398|PMID:21637600|PMID:21960536|PMID:22426792|PMID:22735536|PMID:22912729|PMID:22933512|PMID:22971141|PMID:22975760|PMID:2339709|PMID:23484243|PMID:23632999|PMID:23837941|PMID:23858502|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24328305|PMID:24428606|PMID:24518491|PMID:24592811|PMID:25181470|PMID:25637381|PMID:25738741|PMID:25741868|PMID:2575668|PMID:25966443|PMID:26243289|PMID:26304913|PMID:26310624|PMID:26647313|PMID:26672964|PMID:26771213|PMID:26831755|PMID:2696185|PMID:26987331|PMID:2700304|PMID:27153395|PMID:27246852|PMID:27535533|PMID:27959697|PMID:28146470|PMID:28492532|PMID:2904702|PMID:29083408|PMID:29153744|PMID:29431110|PMID:29618937|PMID:29644095|PMID:29882371|PMID:2989709|PMID:30068317|PMID:30068662|PMID:30254761|PMID:30739910|PMID:31028937|PMID:31216405|PMID:31447099|PMID:31564432|PMID:31980526|PMID:32087139|PMID:3264419|PMID:33144682|PMID:33726816|PMID:3484754|PMID:3500183|PMID:3537008|PMID:3875547|PMID:6306478|PMID:7045697|PMID:7227484|PMID:8970361|PMID:9041988|PMID:9195389|PMID:9569237 12311774 SERPINA1 serpin family A member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349357 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:12034572|PMID:14522813|PMID:15115878|PMID:15454649|PMID:15978931|PMID:1608473|PMID:17964515|PMID:18294358|PMID:18340647|PMID:18414213|PMID:18515255|PMID:18682522|PMID:1889260|PMID:19083091|PMID:19398551|PMID:19444872|PMID:19738092|PMID:20301692|PMID:20981092|PMID:21067581|PMID:21228398|PMID:21637600|PMID:21960536|PMID:22426792|PMID:22735536|PMID:22912729|PMID:22933512|PMID:22971141|PMID:22975760|PMID:2339709|PMID:23484243|PMID:23632999|PMID:23837941|PMID:23858502|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24328305|PMID:24428606|PMID:24518491|PMID:24592811|PMID:25181470|PMID:25637381|PMID:25738741|PMID:25741868|PMID:2575668|PMID:25966443|PMID:26243289|PMID:26304913|PMID:26310624|PMID:26647313|PMID:26672964|PMID:26771213|PMID:26831755|PMID:2696185|PMID:26987331|PMID:2700304|PMID:27153395|PMID:27246852|PMID:27535533|PMID:27959697|PMID:28146470|PMID:28492532|PMID:2904702|PMID:29083408|PMID:29153744|PMID:29431110|PMID:29618937|PMID:29644095|PMID:29882371|PMID:2989709|PMID:30068317|PMID:30068662|PMID:30254761|PMID:30739910|PMID:31028937|PMID:31216405|PMID:31447099|PMID:31564432|PMID:31980526|PMID:32087139|PMID:3264419|PMID:32699024|PMID:33144682|PMID:33726816|PMID:34408828|PMID:34408829|PMID:3484754|PMID:3500183|PMID:3537008|PMID:3875547|PMID:6306478|PMID:7045697|PMID:7227484|PMID:8970361|PMID:9041988|PMID:9195389|PMID:9569237 12311774 SERPINA1 serpin family A member 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17902193 12311774 SERPINA1 serpin family A member 1 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 12311774 SERPINA1 serpin family A member 1 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:28235038|REF_RGD_ID:14695051 12311774 SERPINA1 serpin family A member 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12311774 SERPINA1 serpin family A member 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1349357 D RGD:9068941 20200609 RGD associated with Aortic Aneurysm, Abdominal;DNA:polymorphism: :p.E342K (human) PMID:10063411|REF_RGD_ID:1643148 12311774 SERPINA1 serpin family A member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:3326 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:11140575|REF_RGD_ID:1643168 12311774 SERPINA1 serpin family A member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:1349357 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E264V(human) PMID:20170533|REF_RGD_ID:14695048 12311774 SERPINA1 serpin family A member 1 gene DOID:9007692 Insulin Resistance ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:16752182|REF_RGD_ID:1601202 12311774 SERPINA1 serpin family A member 1 gene DOID:9007730 Burns ISO RGD:3326 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12509927|REF_RGD_ID:1643164 12311774 SERPINA1 serpin family A member 1 gene DOID:9008217 Hemorrhage ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:412531 12311774 SERPINA1 serpin family A member 1 gene DOID:9008821 Otitis Media with Effusion ISO RGD:9014073 D RGD:9068941 20200609 RGD PMID:2454602|REF_RGD_ID:11560528 12311774 SERPINA1 serpin family A member 1 gene DOID:9256 colorectal cancer ISO RGD:1349357 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:24886427|REF_RGD_ID:14695524 12311774 SERPINA1 serpin family A member 1 gene DOID:9563 bronchiectasis ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7785020 12311774 SERPINA1 serpin family A member 1 gene DOID:9675 pulmonary emphysema ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3485249 12311774 SERPINA1 serpin family A member 1 gene DOID:9675 pulmonary emphysema ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:19941265|PMID:21030517|REF_RGD_ID:4892125|REF_RGD_ID:4892126 12311774 SERPINA1 serpin family A member 1 gene DOID:9993 hypoglycemia ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659342 12311788 ORMDL3 ORMDL sphingolipid biosynthesis regulator 3 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1352369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 12311788 ORMDL3 ORMDL sphingolipid biosynthesis regulator 3 gene DOID:2841 asthma ISO RGD:1352369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21150878|PMID:25256354 12311788 ORMDL3 ORMDL sphingolipid biosynthesis regulator 3 gene DOID:630 genetic disease ISO RGD:1352369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12311788 ORMDL3 ORMDL sphingolipid biosynthesis regulator 3 gene DOID:8577 ulcerative colitis ISO RGD:1352369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 12311802 TULP1 TUB like protein 1 gene DOID:0050553 JMP syndrome ISO RGD:1322319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12311802 TULP1 TUB like protein 1 gene DOID:0050581 brachydactyly ISO RGD:1322319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:15024725|PMID:31549751 12311802 TULP1 TUB like protein 1 gene DOID:0050817 Stargardt disease ISO RGD:1322319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:25741868 12311802 TULP1 TUB like protein 1 gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:17620573|PMID:17962469|PMID:21792230|PMID:23661368|PMID:25741868|PMID:26394700|PMID:26856745|PMID:28492532|PMID:28559085|PMID:29178942|PMID:33691693|PMID:33851411|PMID:9462750 12311802 TULP1 TUB like protein 1 gene DOID:0110189 Leber congenital amaurosis 15 ISO RGD:1322319 D RGD:7240710 20180130 OMIM 12311802 TULP1 TUB like protein 1 gene DOID:0110189 Leber congenital amaurosis 15 ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 15 PMID:10549638|PMID:15024725|PMID:16199547|PMID:17576681|PMID:17962469|PMID:18055821|PMID:18432314|PMID:18936139|PMID:19339744|PMID:21792230|PMID:22665969|PMID:23105016|PMID:23847139|PMID:24265693|PMID:25074776|PMID:25342276|PMID:25692139|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26448634|PMID:28492532|PMID:29641573|PMID:30054919|PMID:30337596|PMID:30950243|PMID:31054281|PMID:31549751|PMID:31736247|PMID:32037395|PMID:33781268|PMID:8606774|PMID:9462750|PMID:9462751|PMID:9536098|PMID:9660588 12311802 TULP1 TUB like protein 1 gene DOID:0110381 retinitis pigmentosa 14 ISO RGD:1322319 D RGD:7240710 20180130 OMIM 12311802 TULP1 TUB like protein 1 gene DOID:0110381 retinitis pigmentosa 14 ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 14 PMID:10440267|PMID:10549638|PMID:15024725|PMID:15557452|PMID:16199547|PMID:17576681|PMID:17620573|PMID:17962469|PMID:18055821|PMID:18432314|PMID:18936139|PMID:21792230|PMID:22665969|PMID:23105016|PMID:23499059|PMID:23591405|PMID:23661368|PMID:25324289|PMID:25342276|PMID:25741868|PMID:26103963|PMID:26355662|PMID:26427415|PMID:26766544|PMID:26856745|PMID:26987071|PMID:27440997|PMID:28127548|PMID:28492532|PMID:28559085|PMID:28981474|PMID:30054919|PMID:30337596|PMID:30718709|PMID:30950243|PMID:32531858|PMID:32901917|PMID:33090715|PMID:33691693|PMID:33921607|PMID:33946315|PMID:8606774|PMID:9462750|PMID:9462751|PMID:9536098|PMID:9660588 12311802 TULP1 TUB like protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10440267|PMID:10549638|PMID:15024725|PMID:15557452|PMID:17576681|PMID:17962469|PMID:18055821|PMID:18432314|PMID:18936139|PMID:22605927|PMID:23105016|PMID:23847139|PMID:24033266|PMID:24265693|PMID:25324289|PMID:25342276|PMID:25342620|PMID:25692139|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26766544|PMID:28127548|PMID:28492532|PMID:28981474|PMID:29625443|PMID:29843741|PMID:30054919|PMID:30337596|PMID:30718709|PMID:31630094|PMID:32531858|PMID:32901917|PMID:33090715|PMID:33173045|PMID:33576794|PMID:33946315|PMID:8606774|PMID:9462750|PMID:9462751|PMID:9536098|PMID:9660588 12311802 TULP1 TUB like protein 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:10549638|PMID:15024725|PMID:18055821|PMID:18936139|PMID:23105016|PMID:25342276|PMID:25741868|PMID:26355662|PMID:26766544|PMID:28127548|PMID:28492532|PMID:28981474|PMID:30054919|PMID:30718709|PMID:32531858|PMID:8606774|PMID:9462750|PMID:9660588 12311802 TULP1 TUB like protein 1 gene DOID:630 genetic disease ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12311802 TULP1 TUB like protein 1 gene DOID:8501 fundus dystrophy ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10549638|PMID:15024725|PMID:17576681|PMID:18055821|PMID:18432314|PMID:22605927|PMID:22665969|PMID:24265693|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26427415|PMID:26766544|PMID:28127548|PMID:28492532|PMID:28981474|PMID:29641573|PMID:30337596|PMID:30718709|PMID:31054281|PMID:32531858|PMID:33173045|PMID:33781268|PMID:8606774|PMID:9462750|PMID:9462751|PMID:9536098|PMID:9660588 12311802 TULP1 TUB like protein 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:10549638|PMID:15024725|PMID:18055821|PMID:18936139|PMID:23105016|PMID:25342276|PMID:25741868|PMID:26355662|PMID:28492532|PMID:30054919|PMID:8606774 12311818 TRIM44 tripartite motif containing 44 gene DOID:1059 intellectual disability ISO RGD:1312571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12311818 TRIM44 tripartite motif containing 44 gene DOID:12271 aniridia ISO RGD:1312571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12311818 TRIM44 tripartite motif containing 44 gene DOID:630 genetic disease ISO RGD:1312571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12311818 TRIM44 tripartite motif containing 44 gene DOID:9001549 Aniridia 3 ISO RGD:1312571 D RGD:7240710 20190315 OMIM 12311818 TRIM44 tripartite motif containing 44 gene DOID:9001549 Aniridia 3 ISO RGD:1312571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aniridia 3 PMID:25741868|PMID:26394807 12311827 FERMT3 FERM domain containing kindlin 3 gene DOID:0110910 leukocyte adhesion deficiency 1 ISO RGD:1602673 D RGD:9068941 20200609 RGD DNA:nonsense mutations:exon:p.R509X, p.R573X, p.W229X (human) PMID:19064721|REF_RGD_ID:11352306 12311827 FERMT3 FERM domain containing kindlin 3 gene DOID:0110912 leukocyte adhesion deficiency 3 IAGP D RGD:12801476 20210603 OMIA Leukocyte adhesion deficiency, type III PMID:20126836|PMID:24954630 12311827 FERMT3 FERM domain containing kindlin 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602673 D RGD:7240710 20180130 OMIM 12311827 FERMT3 FERM domain containing kindlin 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:12511588|PMID:16199547|PMID:17576681|PMID:18779414|PMID:19064721|PMID:19234460|PMID:19234463|PMID:20357244|PMID:21441448|PMID:22134107|PMID:22564402|PMID:24033266|PMID:25741868|PMID:26359933|PMID:28492532|PMID:9536098 12311827 FERMT3 FERM domain containing kindlin 3 gene DOID:1059 intellectual disability ISO RGD:1602673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12311827 FERMT3 FERM domain containing kindlin 3 gene DOID:13533 osteopetrosis ISO RGD:1602673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18278053 12311827 FERMT3 FERM domain containing kindlin 3 gene DOID:2218 blood platelet disease ISO RGD:1602673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18278053 12311827 FERMT3 FERM domain containing kindlin 3 gene DOID:2394 ovarian cancer ISO RGD:1310168 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:22818854|REF_RGD_ID:11035257 12311827 FERMT3 FERM domain containing kindlin 3 gene DOID:3070 high grade glioma ISO RGD:1602673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12311827 FERMT3 FERM domain containing kindlin 3 gene DOID:630 genetic disease ISO RGD:1602673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12311827 FERMT3 FERM domain containing kindlin 3 gene DOID:6612 leukocyte adhesion deficiency ISO RGD:1602673 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency PMID:25741868|PMID:28492532 12311827 FERMT3 FERM domain containing kindlin 3 gene DOID:9000146 Plaque, Atherosclerotic severity ISO RGD:1602673 D RGD:9068941 20200609 RGD mRNA:increased expression:artery PMID:26188538|REF_RGD_ID:11085957 12311827 FERMT3 FERM domain containing kindlin 3 gene DOID:9008217 Hemorrhage ISO RGD:1602673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18278053 12311827 FERMT3 FERM domain containing kindlin 3 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1602673 D RGD:9068941 20200609 RGD PMID:22391155|REF_RGD_ID:11352307 12311846 TCF21 transcription factor 21 gene DOID:1657 ventricular septal defect susceptibility ISO RGD:1351692 D RGD:9068941 20230429 RGD DNA:SNPs:3'UTR: (rs12190287) (human) PMID:28346832|REF_RGD_ID:329337362 12311846 TCF21 transcription factor 21 gene DOID:3393 coronary artery disease ISO RGD:1351692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990|PMID:22751097 12311846 TCF21 transcription factor 21 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1351692 D RGD:9068941 20230429 RGD DNA:SNP: (rs12190287) (human) PMID:26909569|REF_RGD_ID:329337364 12311846 TCF21 transcription factor 21 gene DOID:630 genetic disease ISO RGD:1351692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12311846 TCF21 transcription factor 21 gene DOID:9007614 Paroxysmal Atrial Fibrillation susceptibility ISO RGD:1351692 D RGD:9068941 20230429 RGD DNA:SNPs: T>C, C>G(rs2327429, rs12190287) (human) PMID:35601004|REF_RGD_ID:329337356 12311852 FNDC1 fibronectin type III domain containing 1 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1321663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 12311852 FNDC1 fibronectin type III domain containing 1 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1321663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 12311852 FNDC1 fibronectin type III domain containing 1 gene DOID:630 genetic disease ISO RGD:1321663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12311884 CRYBA4 crystallin beta A4 gene DOID:0110270 cataract 17 multiple types ISO RGD:733543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 17 multiple types PMID:12360425|PMID:16110300|PMID:17460281|PMID:17576681|PMID:20565250|PMID:21972112|PMID:25741868|PMID:28492532|PMID:32854469|PMID:33223529|PMID:9536098 12311884 CRYBA4 crystallin beta A4 gene DOID:0110271 cataract 23 ISO RGD:733543 D RGD:7240710 20180130 OMIM 12311884 CRYBA4 crystallin beta A4 gene DOID:0110271 cataract 23 ISO RGD:733543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 23 | ClinVar Annotator: match by term: Cataract 23, multiple types PMID:15452067|PMID:16199547|PMID:16960806|PMID:20577656|PMID:24968223|PMID:25741868|PMID:26694549|PMID:28166811|PMID:28450710|PMID:28492532|PMID:31555371 12311884 CRYBA4 crystallin beta A4 gene DOID:5419 schizophrenia ISO RGD:733543 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12311884 CRYBA4 crystallin beta A4 gene DOID:630 genetic disease ISO RGD:733543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12311884 CRYBA4 crystallin beta A4 gene DOID:83 cataract ISO RGD:733543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:26694549|PMID:28272538|PMID:28492532 12311884 CRYBA4 crystallin beta A4 gene DOID:9001495 Cataract, Lamellar 2 ISO RGD:733543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract, lamellar 2 PMID:26694549|PMID:28492532 12311884 CRYBA4 crystallin beta A4 gene DOID:9002474 Isolated Microphthalmia with Cataract 4 ISO RGD:733543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with cataract 4 PMID:26694549|PMID:28492532 12311899 PWP2 PWP2 small subunit processome component gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1317740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 12311899 PWP2 PWP2 small subunit processome component gene DOID:0110266 cataract 9 multiple types ISO RGD:1317740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12311899 PWP2 PWP2 small subunit processome component gene DOID:12849 autistic disorder ISO RGD:1317740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12311899 PWP2 PWP2 small subunit processome component gene DOID:630 genetic disease ISO RGD:1317740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12311899 PWP2 PWP2 small subunit processome component gene DOID:891 progressive myoclonus epilepsy ISO RGD:1317740 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12311899 PWP2 PWP2 small subunit processome component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12311899 PWP2 PWP2 small subunit processome component gene DOID:9263 homocystinuria ISO RGD:1317740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12311899 PWP2 PWP2 small subunit processome component gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12311924 CLDN7 claudin 7 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:68646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12311924 CLDN7 claudin 7 gene DOID:0080600 COVID-19 ISO RGD:68646 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12311924 CLDN7 claudin 7 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:68646 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12311924 CLDN7 claudin 7 gene DOID:1059 intellectual disability ISO RGD:68646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12311924 CLDN7 claudin 7 gene DOID:12177 common variable immunodeficiency ISO RGD:68646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12311924 CLDN7 claudin 7 gene DOID:2729 dyskeratosis congenita ISO RGD:68646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12311924 CLDN7 claudin 7 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:68646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12311924 CLDN7 claudin 7 gene DOID:4001 ovarian carcinoma ISO RGD:68646 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:21134740 12311924 CLDN7 claudin 7 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:68646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12311924 CLDN7 claudin 7 gene DOID:4481 allergic rhinitis ISO RGD:68646 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:33441633 12311924 CLDN7 claudin 7 gene DOID:630 genetic disease ISO RGD:68646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12311924 CLDN7 claudin 7 gene DOID:9000965 Neoplasm Metastasis ISO RGD:68432 D RGD:9068941 20200609 RGD PMID:23390083|REF_RGD_ID:9685143 12311924 CLDN7 claudin 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12311931 ZDHHC7 zinc finger DHHC-type palmitoyltransferase 7 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1351877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12311931 ZDHHC7 zinc finger DHHC-type palmitoyltransferase 7 gene DOID:5419 schizophrenia ISO RGD:1351877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12311931 ZDHHC7 zinc finger DHHC-type palmitoyltransferase 7 gene DOID:630 genetic disease ISO RGD:1351877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12311942 OR4D2 olfactory receptor family 4 subfamily D member 2 gene DOID:0050777 Joubert syndrome ISO RGD:1344303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12311942 OR4D2 olfactory receptor family 4 subfamily D member 2 gene DOID:1059 intellectual disability ISO RGD:1344303 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12311942 OR4D2 olfactory receptor family 4 subfamily D member 2 gene DOID:630 genetic disease ISO RGD:1344303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12311945 KDM6A lysine demethylase 6A gene DOID:0050834 CHARGE syndrome ISO RGD:1354488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532|PMID:29300383 12311945 KDM6A lysine demethylase 6A gene DOID:0060041 autism spectrum disorder ISO RGD:1354488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12311945 KDM6A lysine demethylase 6A gene DOID:0060081 triple-receptor negative breast cancer ISO RGD:1354488 D RGD:9068941 20210924 RGD DNA:mutations:multiple: (human) PMID:32923150|REF_RGD_ID:150429734 12311945 KDM6A lysine demethylase 6A gene DOID:0060473 Kabuki syndrome ISO RGD:1354488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12311945 KDM6A lysine demethylase 6A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12311945 KDM6A lysine demethylase 6A gene DOID:0080006 bone development disease ISO RGD:1354488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 12311945 KDM6A lysine demethylase 6A gene DOID:0080188 chronic myelomonocytic leukemia ISO RGD:1558450 D RGD:9068941 20220825 MouseDO 12311945 KDM6A lysine demethylase 6A gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1354488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12311945 KDM6A lysine demethylase 6A gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1354488 D RGD:9068941 20210924 RGD DNA:splice-site mutation, missense mutations:splice junction, CDS:multiple: (human) PMID:23685749|REF_RGD_ID:150429732 12311945 KDM6A lysine demethylase 6A gene DOID:0080202 adenoid cystic carcinoma exacerbates ISO RGD:1354488 D RGD:9068941 20210924 RGD DNA:mutations:multiple: (human) PMID:31483290|REF_RGD_ID:150429736 12311945 KDM6A lysine demethylase 6A gene DOID:0110553 autosomal dominant nonsyndromic deafness 23 ISO RGD:1354488 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 23 PMID:25741868 12311945 KDM6A lysine demethylase 6A gene DOID:10283 prostate cancer ISO RGD:1354488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12311945 KDM6A lysine demethylase 6A gene DOID:10534 stomach cancer exacerbates ISO RGD:1354488 D RGD:9068941 20211105 RGD DNA:mutations:multiple (human) PMID:32867456|REF_RGD_ID:150520203 12311945 KDM6A lysine demethylase 6A gene DOID:1059 intellectual disability ISO RGD:1354488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24728327|PMID:25741868|PMID:28492532 12311945 KDM6A lysine demethylase 6A gene DOID:11054 urinary bladder cancer ISO RGD:1354488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 12311945 KDM6A lysine demethylase 6A gene DOID:12849 autistic disorder ISO RGD:1354488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12311945 KDM6A lysine demethylase 6A gene DOID:1324 lung cancer exacerbates ISO RGD:1558450 D RGD:9068941 20210924 RGD PMID:29632194|REF_RGD_ID:150429738 12311945 KDM6A lysine demethylase 6A gene DOID:14566 disease of cellular proliferation ISO RGD:1354488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19330029 12311945 KDM6A lysine demethylase 6A gene DOID:1612 breast cancer severity ISO RGD:1354488 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:22199269|PMID:23266085|REF_RGD_ID:9586031|REF_RGD_ID:9586731 12311945 KDM6A lysine demethylase 6A gene DOID:1996 rectum adenocarcinoma exacerbates ISO RGD:1354488 D RGD:9068941 20210924 RGD mRNA:decreased expression:rectum (human) PMID:33174323|REF_RGD_ID:150429730 12311945 KDM6A lysine demethylase 6A gene DOID:234 colon adenocarcinoma ISO RGD:1354488 D RGD:9068941 20210924 RGD DNA:hypermethylation PMID:33174323|REF_RGD_ID:150429730 12311945 KDM6A lysine demethylase 6A gene DOID:2671 transitional cell carcinoma ISO RGD:1354488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 12311945 KDM6A lysine demethylase 6A gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1354488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 12311945 KDM6A lysine demethylase 6A gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1354488 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:25151357|REF_RGD_ID:9588233 12311945 KDM6A lysine demethylase 6A gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1354488 D RGD:9068941 20210924 RGD mRNA:increased expression:esophagus (human) PMID:31804468|REF_RGD_ID:150429742 12311945 KDM6A lysine demethylase 6A gene DOID:3748 esophagus squamous cell carcinoma ameliorates ISO RGD:1354488 D RGD:9068941 20210924 RGD protein:increased expression:esophagus (human) PMID:29351209|REF_RGD_ID:150429739 12311945 KDM6A lysine demethylase 6A gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1354488 D RGD:9068941 20210924 RGD human cells in a mouse model PMID:32879445|REF_RGD_ID:150429731 12311945 KDM6A lysine demethylase 6A gene DOID:4006 bladder urothelial carcinoma susceptibility ISO RGD:1354488 D RGD:9068941 20210924 RGD associated with upper tract urothelial carcinoma; DNA:mutations:multiple: (human) PMID:30352907|REF_RGD_ID:150429735 12311945 KDM6A lysine demethylase 6A gene DOID:4450 renal cell carcinoma ISO RGD:1354488 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (human) PMID:23057811|REF_RGD_ID:9587837 12311945 KDM6A lysine demethylase 6A gene DOID:5409 lung small cell carcinoma ISO RGD:1354488 D RGD:9068941 20210924 RGD DNA:mutations:multiple: (human) PMID:31199602|REF_RGD_ID:150429733 12311945 KDM6A lysine demethylase 6A gene DOID:5844 myocardial infarction ISO RGD:9275041 D RGD:9068941 20220311 RGD mRNA:incr expr:myocardium (rat) PMID:30887465|REF_RGD_ID:151665136 12311945 KDM6A lysine demethylase 6A gene DOID:630 genetic disease ISO RGD:1354488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23076834|PMID:23913813|PMID:24728327|PMID:25741868|PMID:27302555|PMID:28492532|PMID:29758562 12311945 KDM6A lysine demethylase 6A gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1354488 D RGD:9068941 20210924 RGD human cells in a mouse model PMID:32765772|REF_RGD_ID:150429729 12311945 KDM6A lysine demethylase 6A gene DOID:7474 malignant pleural mesothelioma ISO RGD:1354488 D RGD:9068941 20210924 RGD mRNA:increased expression:mesothelium of pleural cavity (human) PMID:28197626|REF_RGD_ID:150429737 12311945 KDM6A lysine demethylase 6A gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1354488 D RGD:9068941 20210924 RGD associated with lung adenocarcinoma;protein:increased expression:brain (human) PMID:33291558|REF_RGD_ID:150429741 12311945 KDM6A lysine demethylase 6A gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1354488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:11261516|PMID:19370762|PMID:23076834|PMID:23913813|PMID:24728327|PMID:25398587|PMID:25741868|PMID:27302555|PMID:28492532|PMID:29758562 12311945 KDM6A lysine demethylase 6A gene DOID:9002165 Diabetic Nephropathies ISO RGD:1558450 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:kidney (mouse) PMID:23508046|REF_RGD_ID:9587808 12311945 KDM6A lysine demethylase 6A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12311945 KDM6A lysine demethylase 6A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12311945 KDM6A lysine demethylase 6A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:9275041 D RGD:9068941 20220311 RGD PMID:31266808|REF_RGD_ID:151665138 12311945 KDM6A lysine demethylase 6A gene DOID:9007284 Precocious Puberty ISO RGD:1354488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral precocious puberty 12311945 KDM6A lysine demethylase 6A gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1354488 D RGD:7240710 20180130 OMIM 12311945 KDM6A lysine demethylase 6A gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1354488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki Syndrome - KDM6A | ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:11261516|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19370762|PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:24527667|PMID:24664873|PMID:24728327|PMID:24759409|PMID:25326635|PMID:25326637|PMID:25398587|PMID:25741868|PMID:25972376|PMID:26467025|PMID:26633542|PMID:27302555|PMID:27777708|PMID:28492532|PMID:28708303|PMID:29300383|PMID:29302074|PMID:29758562|PMID:30107592|PMID:31883305|PMID:36672956|PMID:9536098 12311945 KDM6A lysine demethylase 6A gene DOID:9008086 Developmental Disabilities ISO RGD:1354488 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 12311945 KDM6A lysine demethylase 6A gene DOID:9256 colorectal cancer ameliorates ISO RGD:1354488 D RGD:9068941 20210924 RGD human cells in a mouse model PMID:31139021|REF_RGD_ID:150429740 12311945 KDM6A lysine demethylase 6A gene DOID:9952 acute lymphoblastic leukemia severity ISO RGD:1354488 D RGD:9068941 20200609 RGD DNA:mutations:cds:multiple (human) PMID:22377896|REF_RGD_ID:9684944 12311992 YAE1 YAE1 maturation factor of ABCE1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12311992 YAE1 YAE1 maturation factor of ABCE1 gene DOID:630 genetic disease ISO RGD:1315329 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312003 PBX4 PBX homeobox 4 gene DOID:630 genetic disease ISO RGD:1345476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312003 PBX4 PBX homeobox 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1345476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 12312026 TEDC2 tubulin epsilon and delta complex 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1604787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 12312026 TEDC2 tubulin epsilon and delta complex 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12312026 TEDC2 tubulin epsilon and delta complex 2 gene DOID:1826 epilepsy ISO RGD:1604787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12312026 TEDC2 tubulin epsilon and delta complex 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12312026 TEDC2 tubulin epsilon and delta complex 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1604787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12312042 PPP1R36 protein phosphatase 1 regulatory subunit 36 gene DOID:630 genetic disease ISO RGD:1319175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312067 WDR45 WD repeat domain 45 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1348509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early onset epileptic encephalopathy PMID:26173968 12312067 WDR45 WD repeat domain 45 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12312067 WDR45 WD repeat domain 45 gene DOID:0070100 oculocutaneous albinism type VII ISO RGD:1348509 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism 12312067 WDR45 WD repeat domain 45 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1348509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12312067 WDR45 WD repeat domain 45 gene DOID:0080231 autosomal dominant intellectual developmental disorder 52 ISO RGD:1348509 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 52 PMID:25741868 12312067 WDR45 WD repeat domain 45 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1348509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12312067 WDR45 WD repeat domain 45 gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1348509 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:16199547|PMID:23176820|PMID:24368176|PMID:24621584|PMID:25741868|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:28711740 12312067 WDR45 WD repeat domain 45 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1348509 D RGD:7240710 20180130 OMIM 12312067 WDR45 WD repeat domain 45 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1348509 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 PMID:16199547|PMID:17576681|PMID:22892189|PMID:23176820|PMID:23435086|PMID:23687123|PMID:24368176|PMID:24621584|PMID:24896178|PMID:25263061|PMID:25326635|PMID:25356899|PMID:25533962|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26467025|PMID:26609730|PMID:26633542|PMID:26790960|PMID:27030146|PMID:27159028|PMID:27652284|PMID:27681470|PMID:28191889|PMID:28492532|PMID:28554332|PMID:28711740|PMID:28878728|PMID:28932395|PMID:29082105|PMID:29171013|PMID:29389947|PMID:29445477|PMID:29681108|PMID:29981852|PMID:30542205|PMID:30612247|PMID:30713893|PMID:31332960|PMID:31487502|PMID:31665836|PMID:32307390|PMID:32382396|PMID:32387008|PMID:34906502|PMID:9536098 12312067 WDR45 WD repeat domain 45 gene DOID:0111443 optic atrophy 2 ISO RGD:1348509 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Optic atrophy 2 12312067 WDR45 WD repeat domain 45 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1348509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12312067 WDR45 WD repeat domain 45 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1348509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12312067 WDR45 WD repeat domain 45 gene DOID:1059 intellectual disability ISO RGD:1348509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23687123|PMID:25533962|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32387008 12312067 WDR45 WD repeat domain 45 gene DOID:12849 autistic disorder ISO RGD:1348509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311|PMID:32581362 12312067 WDR45 WD repeat domain 45 gene DOID:1826 epilepsy ISO RGD:1348509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 12312067 WDR45 WD repeat domain 45 gene DOID:543 dystonia ISO RGD:1348509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12312067 WDR45 WD repeat domain 45 gene DOID:630 genetic disease ISO RGD:1348509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23176820|PMID:23687123|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26467025|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28191889|PMID:28492532|PMID:28554332|PMID:28932395|PMID:29171013|PMID:29981852|PMID:31487502|PMID:32307390|PMID:32382396 12312067 WDR45 WD repeat domain 45 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889|PMID:29942082 12312067 WDR45 WD repeat domain 45 gene DOID:9005923 CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED ISO RGD:1348509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral-cerebellar-coloboma syndrome, X-linked PMID:23176820|PMID:24368176|PMID:24621584|PMID:25326635|PMID:25741868|PMID:25744623|PMID:26609730|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:29389947 12312067 WDR45 WD repeat domain 45 gene DOID:9008086 Developmental Disabilities ISO RGD:1348509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:23176820|PMID:23687123|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741886|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:28932395|PMID:29171013|PMID:29981852|PMID:31487502|PMID:32382396 12312067 WDR45 WD repeat domain 45 gene DOID:9008582 Developmental Disease ISO RGD:1348509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12312067 WDR45 WD repeat domain 45 gene DOID:9775 diastolic heart failure ISO RGD:1348509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12312097 OCIAD2 OCIA domain containing 2 gene DOID:630 genetic disease ISO RGD:1349620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312111 MIR1249 microRNA mir-1249 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:2312970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12312111 MIR1249 microRNA mir-1249 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2312970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12312111 MIR1249 microRNA mir-1249 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2312970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12312137 FN1 fibronectin 1 gene DOID:0050855 renal fibrosis ISO RGD:10594 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:22052058|REF_RGD_ID:9068421 12312137 FN1 fibronectin 1 gene DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type ISO RGD:736627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Strudwick type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia PMID:15666313|PMID:1677003|PMID:25741868|PMID:28492532|PMID:29100092|PMID:30599297|PMID:32200603|PMID:33605604 12312137 FN1 fibronectin 1 gene DOID:0080600 COVID-19 ISO RGD:736627 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12312137 FN1 fibronectin 1 gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:2624 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:11025758|REF_RGD_ID:7206846 12312137 FN1 fibronectin 1 gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:736627 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:19616291|REF_RGD_ID:7206842 12312137 FN1 fibronectin 1 gene DOID:0110034 X-linked Alport syndrome ISO RGD:736627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome PMID:25741868|PMID:28492532 12312137 FN1 fibronectin 1 gene DOID:0111563 Sturge-Weber syndrome ISO RGD:736627 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:12621118|REF_RGD_ID:1358624 12312137 FN1 fibronectin 1 gene DOID:0112295 spondylometaphyseal dysplasia ISO RGD:736627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia PMID:15666313|PMID:1677003|PMID:25741868|PMID:28492532|PMID:29100092|PMID:30599297|PMID:32200603|PMID:33605604 12312137 FN1 fibronectin 1 gene DOID:0112297 spondylometaphyseal dysplasia corner fracture type ISO RGD:736627 D RGD:7240710 20190315 OMIM 12312137 FN1 fibronectin 1 gene DOID:0112297 spondylometaphyseal dysplasia corner fracture type ISO RGD:736627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type PMID:15666313|PMID:1677003|PMID:25741868|PMID:28492532|PMID:29100092|PMID:32200603|PMID:33605604 12312137 FN1 fibronectin 1 gene DOID:10763 hypertension ISO RGD:2624 D RGD:9068941 20200903 RGD mRNA:increased expression:kidney (SHRSP/A3N rat) PMID:11682445|PMID:11907153|REF_RGD_ID:28912746|REF_RGD_ID:30296650 12312137 FN1 fibronectin 1 gene DOID:10763 hypertension ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11682445|PMID:17324946 12312137 FN1 fibronectin 1 gene DOID:11054 urinary bladder cancer ISO RGD:736627 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:20012564|REF_RGD_ID:7205680 12312137 FN1 fibronectin 1 gene DOID:11372 megacolon ISO RGD:736627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12312137 FN1 fibronectin 1 gene DOID:11713 diabetic angiopathy ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:12716757|REF_RGD_ID:1601179 12312137 FN1 fibronectin 1 gene DOID:11758 iron deficiency anemia ISO RGD:2624 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus: PMID:18723004|REF_RGD_ID:2301196 12312137 FN1 fibronectin 1 gene DOID:1184 nephrotic syndrome ISO RGD:736627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:29127259 12312137 FN1 fibronectin 1 gene DOID:12897 submandibular gland disease ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:19097859|REF_RGD_ID:7205460 12312137 FN1 fibronectin 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16191423 12312137 FN1 fibronectin 1 gene DOID:14679 VACTERL association ISO RGD:2624 D RGD:9068941 20200609 RGD protein:increased expression:embryo PMID:14986037|REF_RGD_ID:7205466 12312137 FN1 fibronectin 1 gene DOID:1591 renovascular hypertension ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:17324142|REF_RGD_ID:7205461 12312137 FN1 fibronectin 1 gene DOID:1790 malignant mesothelioma ISO RGD:736627 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 12312137 FN1 fibronectin 1 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:10082755|REF_RGD_ID:7206847 12312137 FN1 fibronectin 1 gene DOID:2921 glomerulonephritis disease_progression ISO RGD:736627 D RGD:9068941 20200609 RGD PMID:20484935|REF_RGD_ID:7206839 12312137 FN1 fibronectin 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:10594 D RGD:9068941 20200625 RGD protein:increased expression:lung (mouse) PMID:23919993|REF_RGD_ID:30310231 12312137 FN1 fibronectin 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:736627 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:15925904|REF_RGD_ID:7206844 12312137 FN1 fibronectin 1 gene DOID:3021 acute kidney failure ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:12884040|REF_RGD_ID:7205684 12312137 FN1 fibronectin 1 gene DOID:3021 acute kidney failure ISO RGD:2624 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:11768240|REF_RGD_ID:729934 12312137 FN1 fibronectin 1 gene DOID:305 carcinoma ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12312137 FN1 fibronectin 1 gene DOID:3068 glioblastoma ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17099729 12312137 FN1 fibronectin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26817844 12312137 FN1 fibronectin 1 gene DOID:4450 renal cell carcinoma severity ISO RGD:736627 D RGD:9068941 20200609 RGD PMID:20860816|REF_RGD_ID:7205637 12312137 FN1 fibronectin 1 gene DOID:5199 ureteral obstruction ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:12218318|REF_RGD_ID:7205473 12312137 FN1 fibronectin 1 gene DOID:5199 ureteral obstruction ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 12312137 FN1 fibronectin 1 gene DOID:57 aortic valve insufficiency ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 12312137 FN1 fibronectin 1 gene DOID:5844 myocardial infarction ISO RGD:2624 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:19695229|REF_RGD_ID:2325720 12312137 FN1 fibronectin 1 gene DOID:630 genetic disease ISO RGD:736627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28492532|PMID:29100092 12312137 FN1 fibronectin 1 gene DOID:783 end stage renal disease ISO RGD:736627 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:6665521|REF_RGD_ID:7205701 12312137 FN1 fibronectin 1 gene DOID:784 chronic kidney disease ISO RGD:736627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 12312137 FN1 fibronectin 1 gene DOID:8398 osteoarthritis ISO RGD:736627 D RGD:9068941 20200609 RGD protein:increased expression:cartilage: PMID:8646429|REF_RGD_ID:10402156 12312137 FN1 fibronectin 1 gene DOID:8778 Crohn's disease ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19751734 12312137 FN1 fibronectin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:736627 D RGD:9068941 20200609 RGD PMID:20347014|REF_RGD_ID:7205459 12312137 FN1 fibronectin 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12312137 FN1 fibronectin 1 gene DOID:9000955 Acute Otitis Media ISO RGD:8845050 D RGD:9068941 20200609 RGD PMID:10453785|REF_RGD_ID:11556224 12312137 FN1 fibronectin 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:736627 D RGD:9068941 20220616 RGD associated with stomach cancer; human cells in mouse model PMID:27431311|REF_RGD_ID:152995400 12312137 FN1 fibronectin 1 gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:12065530|REF_RGD_ID:7205474 12312137 FN1 fibronectin 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2624 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:15980055|REF_RGD_ID:1625201 12312137 FN1 fibronectin 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2624 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:19914391|REF_RGD_ID:4140452 12312137 FN1 fibronectin 1 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:12651615|REF_RGD_ID:7205470 12312137 FN1 fibronectin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:10594 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA:increased expression:kidney PMID:16301823|REF_RGD_ID:7206843 12312137 FN1 fibronectin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413998 12312137 FN1 fibronectin 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2624 D RGD:9068941 20200609 RGD protein:increased expression:kidney cortex: PMID:22736507|REF_RGD_ID:10402169 12312137 FN1 fibronectin 1 gene DOID:9003139 Cardiac Fibrosis ISO RGD:2624 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart: PMID:23383330|REF_RGD_ID:10402158 12312137 FN1 fibronectin 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12312137 FN1 fibronectin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12312137 FN1 fibronectin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 12312137 FN1 fibronectin 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181017 12312137 FN1 fibronectin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12312137 FN1 fibronectin 1 gene DOID:9005563 Glomerulopathy with Giant Fibrillar Deposits ISO RGD:736627 D RGD:7240710 20180130 OMIM 12312137 FN1 fibronectin 1 gene DOID:9005563 Glomerulopathy with Giant Fibrillar Deposits ISO RGD:736627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 PMID:12042895|PMID:1544672|PMID:17576681|PMID:18268355|PMID:25741868|PMID:28492532|PMID:29100092|PMID:30599297|PMID:32200603|PMID:7747733|PMID:9536098 12312137 FN1 fibronectin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2624 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:22937115|REF_RGD_ID:7206838 12312137 FN1 fibronectin 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:22228707|REF_RGD_ID:7296926 12312137 FN1 fibronectin 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:11352844|REF_RGD_ID:7205629 12312137 FN1 fibronectin 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 12312137 FN1 fibronectin 1 gene DOID:9008691 Liver Injury ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:7806580|REF_RGD_ID:7205469 12312137 FN1 fibronectin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 12312137 FN1 fibronectin 1 gene DOID:9351 diabetes mellitus ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20551625 12312137 FN1 fibronectin 1 gene DOID:9351 diabetes mellitus ISO RGD:736627 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11213886|REF_RGD_ID:7206845 12312137 FN1 fibronectin 1 gene DOID:936 brain disease ISO RGD:736627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868 12312196 YES1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:1321347 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12312196 YES1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:12849 autistic disorder ISO RGD:1321347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12312196 YES1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:1657 ventricular septal defect ISO RGD:1321347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478334 12312196 YES1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:1321347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312196 YES1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:6406 double outlet right ventricle ISO RGD:1321347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478334 12312196 YES1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:9003191 Vascular Malformations ISO RGD:1321347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478334 12312196 YES1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12312196 YES1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:9007023 Prenatal Injuries ISO RGD:1321347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478334 12312196 YES1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1550106 D RGD:9068941 20230429 RGD mRNA,protein:increased expression:myocardium (mouse) PMID:30259997|REF_RGD_ID:329337366 12312227 PSMD5 proteasome 26S subunit, non-ATPase 5 gene DOID:630 genetic disease ISO RGD:1318199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312240 HNRNPUL2 heterogeneous nuclear ribonucleoprotein U like 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12312240 HNRNPUL2 heterogeneous nuclear ribonucleoprotein U like 2 gene DOID:1059 intellectual disability ISO RGD:1606938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12312240 HNRNPUL2 heterogeneous nuclear ribonucleoprotein U like 2 gene DOID:12849 autistic disorder ISO RGD:1606938 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:35982159 12312240 HNRNPUL2 heterogeneous nuclear ribonucleoprotein U like 2 gene DOID:630 genetic disease ISO RGD:1606938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312258 MEX3C mex-3 RNA binding family member C gene DOID:0060224 atrial fibrillation ISO RGD:1319133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12312258 MEX3C mex-3 RNA binding family member C gene DOID:1059 intellectual disability ISO RGD:1319133 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12312258 MEX3C mex-3 RNA binding family member C gene DOID:630 genetic disease ISO RGD:1319133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312258 MEX3C mex-3 RNA binding family member C gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1319133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12312265 IRF3 interferon regulatory factor 3 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1344104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12312265 IRF3 interferon regulatory factor 3 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1344104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 12312265 IRF3 interferon regulatory factor 3 gene DOID:2841 asthma ISO RGD:1558245 D RGD:9068941 20200609 RGD PMID:20673978|REF_RGD_ID:5128793 12312265 IRF3 interferon regulatory factor 3 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1344104 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26861016 12312265 IRF3 interferon regulatory factor 3 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1344104 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 12312265 IRF3 interferon regulatory factor 3 gene DOID:630 genetic disease ISO RGD:1344104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312265 IRF3 interferon regulatory factor 3 gene DOID:874 bacterial pneumonia ISO RGD:1558245 D RGD:9068941 20200609 RGD PMID:20720199|REF_RGD_ID:4891951 12312265 IRF3 interferon regulatory factor 3 gene DOID:9000840 Herpes Simplex Encephalitis 7 susceptibility ISO RGD:1344104 D RGD:7240710 20190502 OMIM 12312265 IRF3 interferon regulatory factor 3 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1344104 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12312265 IRF3 interferon regulatory factor 3 gene DOID:9008680 Respiratory Tract Infections ISO RGD:1558245 D RGD:9068941 20200609 RGD PMID:17027894|REF_RGD_ID:5128795 12312275 EMC3 ER membrane protein complex subunit 3 gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1601753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 12312275 EMC3 ER membrane protein complex subunit 3 gene DOID:630 genetic disease ISO RGD:1601753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312275 EMC3 ER membrane protein complex subunit 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12312275 EMC3 ER membrane protein complex subunit 3 gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1601753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 12312275 EMC3 ER membrane protein complex subunit 3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1601753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:25516202|PMID:28492532 12312287 GMPS guanine monophosphate synthase gene DOID:0081082 acute myelomonocytic leukemia ISO RGD:1320749 D RGD:9068941 20200609 RGD treatment-related acute type M4 myeloid leukemia; chromosomal translocation resulted in a fusion of MLL and GMPS genes PMID:11110714|REF_RGD_ID:1598998 12312287 GMPS guanine monophosphate synthase gene DOID:630 genetic disease ISO RGD:1320749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312287 GMPS guanine monophosphate synthase gene DOID:684 hepatocellular carcinoma ISO RGD:1310063 D RGD:9068941 20200609 RGD protein:increased activity:hepatoma (rat) PMID:6861338|REF_RGD_ID:5135537 12312287 GMPS guanine monophosphate synthase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1310063 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:3043317|REF_RGD_ID:5135485 12312287 GMPS guanine monophosphate synthase gene DOID:9005715 Neoplasms, Second Primary ISO RGD:1320749 D RGD:9068941 20200609 RGD treatment-related acute type M4 myeloid leukemia; chromosomal translocation resulted in a fusion of MLL and GMPS genes PMID:11110714|REF_RGD_ID:1598998 12312310 DIAPH2 diaphanous related formin 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12312310 DIAPH2 diaphanous related formin 2 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1346222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:25741868 12312310 DIAPH2 diaphanous related formin 2 gene DOID:0080858 primary ovarian insufficiency 2A ISO RGD:1346222 D RGD:7240710 20180130 OMIM 12312310 DIAPH2 diaphanous related formin 2 gene DOID:0080858 primary ovarian insufficiency 2A ISO RGD:1346222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 2A PMID:25741868|PMID:28492532 12312310 DIAPH2 diaphanous related formin 2 gene DOID:12849 autistic disorder ISO RGD:1346222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12312310 DIAPH2 diaphanous related formin 2 gene DOID:13938 amenorrhea ISO RGD:1346222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12312310 DIAPH2 diaphanous related formin 2 gene DOID:5426 primary ovarian insufficiency susceptibility ISO RGD:1346222 D RGD:9068941 20200609 RGD DNA:translocation:intron:t(X;12)(q21;p1.3) PMID:9070928|REF_RGD_ID:1601071 12312310 DIAPH2 diaphanous related formin 2 gene DOID:630 genetic disease ISO RGD:1346222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312346 PLPPR1 phospholipid phosphatase related 1 gene DOID:630 genetic disease ISO RGD:1603210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312361 ZC3H3 zinc finger CCCH-type containing 3 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1316375 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12312361 ZC3H3 zinc finger CCCH-type containing 3 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1316375 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12312361 ZC3H3 zinc finger CCCH-type containing 3 gene DOID:1227 neutropenia ISO RGD:1316375 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 12312361 ZC3H3 zinc finger CCCH-type containing 3 gene DOID:4621 holoprosencephaly ISO RGD:1316375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12312361 ZC3H3 zinc finger CCCH-type containing 3 gene DOID:630 genetic disease ISO RGD:1316375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312375 PTCH2 patched 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12312375 PTCH2 patched 2 gene DOID:0050902 medulloblastoma ISO RGD:1604843 D RGD:7240710 20180130 OMIM 12312375 PTCH2 patched 2 gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1604843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:28492532 12312375 PTCH2 patched 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1604843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12312375 PTCH2 patched 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12312375 PTCH2 patched 2 gene DOID:13501 Moebius syndrome ISO RGD:1604843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum PMID:28492532|PMID:28915250 12312375 PTCH2 patched 2 gene DOID:2120 focal dermal hypoplasia ISO RGD:1604843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gorlin-Goltz Syndrome PMID:28492532 12312375 PTCH2 patched 2 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1604843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome PMID:16199547|PMID:17576681|PMID:18285427|PMID:23951062|PMID:25260786|PMID:25741868|PMID:28492532|PMID:28915250|PMID:31945512|PMID:32864857|PMID:33077954|PMID:9536098 12312375 PTCH2 patched 2 gene DOID:2513 basal cell carcinoma ISO RGD:1604843 D RGD:7240710 20230505 OMIM 12312375 PTCH2 patched 2 gene DOID:2513 basal cell carcinoma ISO RGD:1604843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 PMID:25741868|PMID:28492532|PMID:31945512|PMID:9931336 12312375 PTCH2 patched 2 gene DOID:630 genetic disease ISO RGD:1604843 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12312375 PTCH2 patched 2 gene DOID:9005987 Basal Cell Nevus Syndrome 1 ISO RGD:1604843 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: BASAL CELL NEVUS SYNDROME 1 PMID:28492532 12312375 PTCH2 patched 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12312416 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:0050464 Farber lipogranulomatosis ISO RGD:734135 D RGD:7240710 20180130 OMIM 12312416 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:0050464 Farber lipogranulomatosis ISO RGD:734135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar Annotator: match by term: Farber's lipogranulomatosis | ClinVar Annotator: match by term: N-Laurylsphingosine deacylase deficiency PMID:10610716|PMID:11241842|PMID:12638942|PMID:16199547|PMID:16951918|PMID:17576681|PMID:20560208|PMID:21893389|PMID:22565078|PMID:23681708|PMID:23707712|PMID:24033266|PMID:24164096|PMID:24355074|PMID:24614645|PMID:25741868|PMID:26075876|PMID:26467025|PMID:26945816|PMID:27411168|PMID:28251733|PMID:28492532|PMID:28733637|PMID:29140481|PMID:29358611|PMID:29379059|PMID:29692406|PMID:3037247|PMID:30525581|PMID:30815900|PMID:31680123|PMID:32449975|PMID:32627310|PMID:32706452|PMID:32875576|PMID:34240417|PMID:8955159|PMID:9128814|PMID:9536098 12312416 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:0060224 atrial fibrillation ISO RGD:734135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12312416 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:734135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 12312416 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:734135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28492532|PMID:31680123 12312416 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy ISO RGD:734135 D RGD:7240710 20180130 OMIM 12312416 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy ISO RGD:734135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar Annotator: match by term: MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY PMID:16199547|PMID:22703880|PMID:24033266|PMID:24164096|PMID:24355074|PMID:25326635|PMID:25578555|PMID:25741868|PMID:25847462|PMID:26467025|PMID:26526000|PMID:27026573|PMID:27723502|PMID:28251733|PMID:28492532|PMID:28733637|PMID:29169047|PMID:29358611|PMID:30291339|PMID:32449975|PMID:34240417 12312416 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:10316 pneumoconiosis ISO RGD:734135 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 12312416 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:1927 sphingolipidosis susceptibility ISO RGD:734135 D RGD:9068941 20200609 RGD PMID:11241842|REF_RGD_ID:734977 12312416 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:734135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:26075876|PMID:26467025|PMID:28492532|PMID:29140481|PMID:29358611|PMID:29692406 12312416 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:630 genetic disease ISO RGD:734135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22565078|PMID:24355074|PMID:25741868|PMID:26075876|PMID:26467025|PMID:28492532|PMID:29140481|PMID:29358611|PMID:29692406|PMID:3037247|PMID:30525581 12312416 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:9000058 Keloid ISO RGD:734135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keloid formation PMID:28492532|PMID:28905881 12312416 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12312416 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:9006534 Nervous System Malformations ISO RGD:734135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12312416 ASAH1 N-acylsphingosine amidohydrolase 1 gene DOID:9455 lipid storage disease ISO RGD:734135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414 12312437 PCSK4 proprotein convertase subtilisin/kexin type 4 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1345180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 12312437 PCSK4 proprotein convertase subtilisin/kexin type 4 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1345180 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs1047854) C>T (human) PMID:27354594|REF_RGD_ID:152177496 12312437 PCSK4 proprotein convertase subtilisin/kexin type 4 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1345180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12312437 PCSK4 proprotein convertase subtilisin/kexin type 4 gene DOID:5339 cyclic hematopoiesis ISO RGD:1345180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12312437 PCSK4 proprotein convertase subtilisin/kexin type 4 gene DOID:630 genetic disease ISO RGD:1345180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312437 PCSK4 proprotein convertase subtilisin/kexin type 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12312456 RTN4R reticulon 4 receptor gene DOID:0060041 autism spectrum disorder ISO RGD:1607007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12312456 RTN4R reticulon 4 receptor gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1607007 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12312456 RTN4R reticulon 4 receptor gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1607007 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12312456 RTN4R reticulon 4 receptor gene DOID:1059 intellectual disability ISO RGD:1607007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12312456 RTN4R reticulon 4 receptor gene DOID:11198 DiGeorge syndrome ISO RGD:1607007 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12312456 RTN4R reticulon 4 receptor gene DOID:11372 megacolon ISO RGD:1607007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12312456 RTN4R reticulon 4 receptor gene DOID:12583 velocardiofacial syndrome ISO RGD:1607007 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12312456 RTN4R reticulon 4 receptor gene DOID:12849 autistic disorder ISO RGD:1607007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12312456 RTN4R reticulon 4 receptor gene DOID:1826 epilepsy ISO RGD:1607007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12312456 RTN4R reticulon 4 receptor gene DOID:2213 hemorrhagic disease ISO RGD:1607007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 12312456 RTN4R reticulon 4 receptor gene DOID:5419 schizophrenia ISO RGD:1607007 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia | ClinVar Annotator: match by term: Schizophrenia, susceptibility to PMID:15532024|PMID:21681106|PMID:30208311 12312456 RTN4R reticulon 4 receptor gene DOID:5419 schizophrenia susceptibility ISO RGD:1607007 D RGD:7240710 20230505 OMIM 12312456 RTN4R reticulon 4 receptor gene DOID:612 primary immunodeficiency disease ISO RGD:1607007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12312456 RTN4R reticulon 4 receptor gene DOID:630 genetic disease ISO RGD:1607007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312456 RTN4R reticulon 4 receptor gene DOID:9003871 Venous Thrombosis ISO RGD:1607007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 12312456 RTN4R reticulon 4 receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12312456 RTN4R reticulon 4 receptor gene DOID:9007661 Dwarfism ISO RGD:1607007 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12312464 H2AJ H2A.J histone gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1343634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12312464 H2AJ H2A.J histone gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1343634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12312469 POR cytochrome p450 oxidoreductase gene DOID:0050462 Antley-Bixler syndrome with disordered steroidogenesis ISO RGD:68468 D RGD:7240710 20180130 OMIM 12312469 POR cytochrome p450 oxidoreductase gene DOID:0050462 Antley-Bixler syndrome with disordered steroidogenesis ISO RGD:68468 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | ClinVar Annotator: match by term: POR Deficiency PMID:12116245|PMID:14513299|PMID:14758361|PMID:15220035|PMID:15264278|PMID:15483095|PMID:15793702|PMID:16199547|PMID:16470797|PMID:17576681|PMID:18230729|PMID:18551037|PMID:18559916|PMID:19837910|PMID:20124576|PMID:20188793|PMID:20410220|PMID:20732302|PMID:20940534|PMID:21070833|PMID:21741353|PMID:22162478|PMID:22252407|PMID:22547083|PMID:23878291|PMID:24847272|PMID:25741868|PMID:26670660|PMID:27068427|PMID:28492532|PMID:28841001|PMID:31598952|PMID:31837199|PMID:32242900|PMID:33666875|PMID:33864926|PMID:34009138|PMID:9360545|PMID:9536098 12312469 POR cytochrome p450 oxidoreductase gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:68468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia PMID:14758361|PMID:15220035|PMID:15350602|PMID:15793702|PMID:17635179|PMID:18551037|PMID:18930113|PMID:19837910|PMID:20410220|PMID:20732302|PMID:21741353|PMID:22162478|PMID:22462747|PMID:23365120|PMID:25741868|PMID:27068427|PMID:28492532|PMID:33864926 12312469 POR cytochrome p450 oxidoreductase gene DOID:0080074 neural tube defect ISO RGD:68469 D RGD:9068941 20200609 RGD PMID:11742006|REF_RGD_ID:4889811 12312469 POR cytochrome p450 oxidoreductase gene DOID:0080925 cytochrome P450 oxidoreductase deficiency ISO RGD:68468 D RGD:7240710 20210505 OMIM 12312469 POR cytochrome p450 oxidoreductase gene DOID:0080925 cytochrome P450 oxidoreductase deficiency ISO RGD:68468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | ClinVar Annotator: match by term: Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency PMID:12116245|PMID:14758361|PMID:15220035|PMID:15264278|PMID:15350602|PMID:15483095|PMID:15793702|PMID:16199547|PMID:16467261|PMID:16470797|PMID:17576681|PMID:17635179|PMID:17827787|PMID:18230729|PMID:18433346|PMID:18551037|PMID:18559916|PMID:18930113|PMID:19837910|PMID:20124576|PMID:20188793|PMID:20732302|PMID:20940534|PMID:21070833|PMID:21084761|PMID:21741353|PMID:21843508|PMID:22162478|PMID:22252407|PMID:22462747|PMID:22547083|PMID:22719896|PMID:23353702|PMID:23365120|PMID:23878291|PMID:24847272|PMID:25712184|PMID:25741868|PMID:26670660|PMID:27068427|PMID:27376429|PMID:28492532|PMID:28731962|PMID:28841001|PMID:29168297|PMID:31598952|PMID:31669572|PMID:32242900|PMID:33666875|PMID:34009138|PMID:9360545|PMID:9536098 12312469 POR cytochrome p450 oxidoreductase gene DOID:0081289 Antley-Bixler syndrome ISO RGD:68468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: POR Deficiency PMID:12116245|PMID:14758361|PMID:15220035|PMID:15793702|PMID:18551037|PMID:20188793|PMID:20940534|PMID:21741353|PMID:22162478|PMID:25741868|PMID:27068427|PMID:28492532 12312469 POR cytochrome p450 oxidoreductase gene DOID:0081290 Antley-Bixler syndrome without disordered steroidogenesis ISO RGD:68468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12312469 POR cytochrome p450 oxidoreductase gene DOID:10487 Hirschsprung's disease ISO RGD:68468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 12312469 POR cytochrome p450 oxidoreductase gene DOID:11054 urinary bladder cancer ISO RGD:68468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8631603 12312469 POR cytochrome p450 oxidoreductase gene DOID:13938 amenorrhea ISO RGD:68468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14758361 12312469 POR cytochrome p450 oxidoreductase gene DOID:1923 disorder of sexual development ISO RGD:68468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ambiguous genitalia | ClinVar Annotator: match by term: Disorder of sexual differentiation PMID:25741868|PMID:28492532 12312469 POR cytochrome p450 oxidoreductase gene DOID:3071 gliosarcoma ISO RGD:68468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9766669 12312469 POR cytochrome p450 oxidoreductase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:68468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12312469 POR cytochrome p450 oxidoreductase gene DOID:5426 primary ovarian insufficiency ISO RGD:68468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12312469 POR cytochrome p450 oxidoreductase gene DOID:6000 congestive heart failure ISO RGD:68468 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12312469 POR cytochrome p450 oxidoreductase gene DOID:630 genetic disease ISO RGD:68468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12312469 POR cytochrome p450 oxidoreductase gene DOID:8927 learning disability ISO RGD:68468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21987461 12312469 POR cytochrome p450 oxidoreductase gene DOID:9000310 Lung Injury ISO RGD:68468 D RGD:9068941 20210312 CTD CTD Direct Evidence: therapeutic PMID:33033841 12312469 POR cytochrome p450 oxidoreductase gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:68468 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency PMID:21070833|PMID:24847272|PMID:25741868|PMID:27068427|PMID:27376429|PMID:28492532|PMID:33666875 12312469 POR cytochrome p450 oxidoreductase gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:68468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 12312469 POR cytochrome p450 oxidoreductase gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:68468 D RGD:9068941 20200609 RGD Antley-Bixler syndrome, OMIM:124015; DNA:mutations:cds:multiple (human) PMID:15793702|REF_RGD_ID:1599697 12312469 POR cytochrome p450 oxidoreductase gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:68468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12312469 POR cytochrome p450 oxidoreductase gene DOID:9006024 Hypotension ISO RGD:68335 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:15942020|REF_RGD_ID:1625563 12312469 POR cytochrome p450 oxidoreductase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:68468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15089088 12312514 SLC12A9 solute carrier family 12 member 9 gene DOID:0081030 central conducting lymphatic anomaly ISO RGD:1347947 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 7 PMID:25741868|PMID:28492532 12312514 SLC12A9 solute carrier family 12 member 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12312514 SLC12A9 solute carrier family 12 member 9 gene DOID:630 genetic disease ISO RGD:1347947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312514 SLC12A9 solute carrier family 12 member 9 gene DOID:9002861 Capillary Malformation-Arteriovenous Malformation 2 ISO RGD:1347947 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 PMID:25741868|PMID:28492532|PMID:28687708 12312536 ZFP62 ZFP62 zinc finger protein gene DOID:630 genetic disease ISO RGD:1353379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312557 SETD9 SET domain containing 9 gene DOID:3070 high grade glioma ISO RGD:1602299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12312557 SETD9 SET domain containing 9 gene DOID:630 genetic disease ISO RGD:1602299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312557 SETD9 SET domain containing 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12312569 TRIM47 tripartite motif containing 47 gene DOID:630 genetic disease ISO RGD:1322764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312569 TRIM47 tripartite motif containing 47 gene DOID:9002170 Experimental Neoplasms ISO RGD:1322764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31981573 12312569 TRIM47 tripartite motif containing 47 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1322764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31981573 12312569 TRIM47 tripartite motif containing 47 gene DOID:9008939 Breast Neoplasms ISO RGD:1322764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31981573 12312579 MARK3 microtubule affinity regulating kinase 3 gene DOID:0070356 visual impairment and progressive phthisis bulbi ISO RGD:1353156 D RGD:7240710 20190724 OMIM 12312579 MARK3 microtubule affinity regulating kinase 3 gene DOID:0070356 visual impairment and progressive phthisis bulbi ISO RGD:1353156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visual impairment and progressive phthisis bulbi PMID:25741868|PMID:29771303 12312579 MARK3 microtubule affinity regulating kinase 3 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1353156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12312579 MARK3 microtubule affinity regulating kinase 3 gene DOID:630 genetic disease ISO RGD:1353156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312579 MARK3 microtubule affinity regulating kinase 3 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1353156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 12312618 TNFSF14 TNF superfamily member 14 gene DOID:0080490 mucolipidosis type IV ISO RGD:1352930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12312618 TNFSF14 TNF superfamily member 14 gene DOID:2377 multiple sclerosis ISO RGD:1352930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24076602 12312618 TNFSF14 TNF superfamily member 14 gene DOID:2986 IgA glomerulonephritis ISO RGD:1557415 D RGD:9068941 20220825 MouseDO OMIM:161950 | OMIM:616818 12312618 TNFSF14 TNF superfamily member 14 gene DOID:630 genetic disease ISO RGD:1352930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312618 TNFSF14 TNF superfamily member 14 gene DOID:7148 rheumatoid arthritis ISO RGD:1352930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 12312628 TFPT TCF3 fusion partner gene DOID:10584 retinitis pigmentosa ISO RGD:733579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant 12312628 TFPT TCF3 fusion partner gene DOID:630 genetic disease ISO RGD:733579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312649 CNTN4 contactin 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1349263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12312649 CNTN4 contactin 4 gene DOID:12849 autistic disorder ISO RGD:1349263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:18349135|PMID:18551756|PMID:21681106|PMID:30208311 12312649 CNTN4 contactin 4 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1349263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:28595731 12312649 CNTN4 contactin 4 gene DOID:630 genetic disease ISO RGD:1349263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312649 CNTN4 contactin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12312649 CNTN4 contactin 4 gene DOID:9006257 Growth Disorders ISO RGD:1349263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15106122 12312649 CNTN4 contactin 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1349263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15106122 12312649 CNTN4 contactin 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1349263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15106122 12312687 OR8B3 olfactory receptor family 8 subfamily B member 3 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1354454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12312687 OR8B3 olfactory receptor family 8 subfamily B member 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1354454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12312687 OR8B3 olfactory receptor family 8 subfamily B member 3 gene DOID:5419 schizophrenia ISO RGD:1354454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12312687 OR8B3 olfactory receptor family 8 subfamily B member 3 gene DOID:630 genetic disease ISO RGD:1354454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312687 OR8B3 olfactory receptor family 8 subfamily B member 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1354454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12312687 OR8B3 olfactory receptor family 8 subfamily B member 3 gene DOID:9007661 Dwarfism ISO RGD:1354454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12312733 TNFSF4 TNF superfamily member 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:1345164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 12312733 TNFSF4 TNF superfamily member 4 gene DOID:14557 primary pulmonary hypertension ISO RGD:733125 D RGD:9068941 20220825 MouseDO OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 12312733 TNFSF4 TNF superfamily member 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1345164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12312733 TNFSF4 TNF superfamily member 4 gene DOID:3744 cervical squamous cell carcinoma severity ISO RGD:1345164 D RGD:9068941 20200807 RGD PMID:28086903|REF_RGD_ID:38455996 12312733 TNFSF4 TNF superfamily member 4 gene DOID:3755 antithrombin III deficiency ISO RGD:1345164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 12312733 TNFSF4 TNF superfamily member 4 gene DOID:5844 myocardial infarction ISO RGD:1345164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12312733 TNFSF4 TNF superfamily member 4 gene DOID:5844 myocardial infarction ISO RGD:1345164 D RGD:9068941 20200609 RGD PMID:15750594|REF_RGD_ID:1580396 12312733 TNFSF4 TNF superfamily member 4 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1345164 D RGD:7240710 20190502 OMIM 12312733 TNFSF4 TNF superfamily member 4 gene DOID:630 genetic disease ISO RGD:1345164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312733 TNFSF4 TNF superfamily member 4 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1345164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 12312733 TNFSF4 TNF superfamily member 4 gene DOID:820 myocarditis ISO RGD:1345164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 12312733 TNFSF4 TNF superfamily member 4 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1345164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 12312733 TNFSF4 TNF superfamily member 4 gene DOID:9065 leishmaniasis ISO RGD:1345164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10637281 12312733 TNFSF4 TNF superfamily member 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:1345164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18059267|PMID:19838193 12312733 TNFSF4 TNF superfamily member 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12312733 TNFSF4 TNF superfamily member 4 gene DOID:934 viral infectious disease ISO RGD:1345164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 12312733 TNFSF4 TNF superfamily member 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733125 D RGD:9068941 20220825 MouseDO OMIM:222100 12312848 DRD2 dopamine receptor D2 gene DOID:0060001 withdrawal disorder ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17189962 12312848 DRD2 dopamine receptor D2 gene DOID:0080855 Parkinsonism ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:22126770|REF_RGD_ID:6907448 12312848 DRD2 dopamine receptor D2 gene DOID:0080855 Parkinsonism ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12476322|PMID:15469457|PMID:9171869 12312848 DRD2 dopamine receptor D2 gene DOID:0081292 traumatic brain injury treatment ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:24047867|REF_RGD_ID:13506948 12312848 DRD2 dopamine receptor D2 gene DOID:0090034 myoclonic dystonia 11 ISO RGD:736796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 11 PMID:10220438|PMID:10716258|PMID:12402271 12312848 DRD2 dopamine receptor D2 gene DOID:10024 migraine with aura ISO RGD:736796 D RGD:9068941 20200609 RGD DNA:snp:cds:p.H313H (human) PMID:9513185|REF_RGD_ID:1358603 12312848 DRD2 dopamine receptor D2 gene DOID:1059 intellectual disability ISO RGD:736796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12312848 DRD2 dopamine receptor D2 gene DOID:10652 Alzheimer's disease ISO RGD:736796 D RGD:9068941 20200609 RGD protein:decreased expression:blood, lymphocyte PMID:11087905|REF_RGD_ID:5686416 12312848 DRD2 dopamine receptor D2 gene DOID:10763 hypertension ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11566895 12312848 DRD2 dopamine receptor D2 gene DOID:10763 hypertension ISO RGD:736796 D RGD:9068941 20200609 RGD PMID:11494094|REF_RGD_ID:1580874 12312848 DRD2 dopamine receptor D2 gene DOID:10763 hypertension ISO RGD:736796 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15939106|REF_RGD_ID:1600905 12312848 DRD2 dopamine receptor D2 gene DOID:10937 impulse control disorder ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17332411|PMID:19940168|PMID:20671181 12312848 DRD2 dopamine receptor D2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17671965 12312848 DRD2 dopamine receptor D2 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:2520 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum (rat) PMID:19467315|REF_RGD_ID:2311576 12312848 DRD2 dopamine receptor D2 gene DOID:11119 Gilles de la Tourette syndrome treatment ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:22876458|REF_RGD_ID:6907444 12312848 DRD2 dopamine receptor D2 gene DOID:12700 hyperprolactinemia ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15286066|PMID:19339912 12312848 DRD2 dopamine receptor D2 gene DOID:12700 hyperprolactinemia treatment ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:26297122|REF_RGD_ID:13506955 12312848 DRD2 dopamine receptor D2 gene DOID:12858 Huntington's disease ISO RGD:10486 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (mouse) PMID:16905556|REF_RGD_ID:7248682 12312848 DRD2 dopamine receptor D2 gene DOID:12858 Huntington's disease ISO RGD:68472 D RGD:9068941 20200609 RGD PMID:12111832|REF_RGD_ID:5686414 12312848 DRD2 dopamine receptor D2 gene DOID:1307 dementia ISO RGD:2520 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum (rat) PMID:19500946|REF_RGD_ID:2311554 12312848 DRD2 dopamine receptor D2 gene DOID:14330 Parkinson's disease ISO RGD:10486 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 12312848 DRD2 dopamine receptor D2 gene DOID:14330 Parkinson's disease ISO RGD:2520 D RGD:9068941 20200609 RGD protein:increased expression:striatum (rat) PMID:18289173|REF_RGD_ID:2311585 12312848 DRD2 dopamine receptor D2 gene DOID:14330 Parkinson's disease ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8558425 12312848 DRD2 dopamine receptor D2 gene DOID:1561 cognitive disorder ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19910723 12312848 DRD2 dopamine receptor D2 gene DOID:1596 depressive disorder ISO RGD:2520 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum PMID:21596067|REF_RGD_ID:6907449 12312848 DRD2 dopamine receptor D2 gene DOID:1596 depressive disorder ISO RGD:736796 D RGD:9068941 20200609 RGD DNA:snp:cds:p.H313H (human) PMID:9513185|REF_RGD_ID:1358603 12312848 DRD2 dopamine receptor D2 gene DOID:1742 drug psychosis ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:26174132|REF_RGD_ID:11534754 12312848 DRD2 dopamine receptor D2 gene DOID:2030 anxiety disorder ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18305461|PMID:20532872 12312848 DRD2 dopamine receptor D2 gene DOID:2030 anxiety disorder ISO RGD:736796 D RGD:9068941 20200609 RGD DNA:snp:cds:p.H313H (human) PMID:9513185|REF_RGD_ID:1358603 12312848 DRD2 dopamine receptor D2 gene DOID:2316 brain ischemia ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:11474153|REF_RGD_ID:1580883 12312848 DRD2 dopamine receptor D2 gene DOID:2560 morphine dependence ISO RGD:2520 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus (rat) PMID:18276072|REF_RGD_ID:2311587 12312848 DRD2 dopamine receptor D2 gene DOID:303 substance-related disorder ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16901644 12312848 DRD2 dopamine receptor D2 gene DOID:3602 toxic encephalopathy ISO RGD:2520 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus (rat) PMID:19576243|REF_RGD_ID:2311553 12312848 DRD2 dopamine receptor D2 gene DOID:446 primary hyperaldosteronism ISO RGD:10486 D RGD:9068941 20220825 MouseDO OMIM:605635 | OMIM:613677 12312848 DRD2 dopamine receptor D2 gene DOID:480 movement disease ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6858777 12312848 DRD2 dopamine receptor D2 gene DOID:480 movement disease ISO RGD:736796 D RGD:9068941 20200609 RGD myoclonus dystonia, OMIM:159900, V154I PMID:10220438|REF_RGD_ID:1600903 12312848 DRD2 dopamine receptor D2 gene DOID:5419 schizophrenia ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10831489|PMID:11245917|PMID:18583979|PMID:21187413 12312848 DRD2 dopamine receptor D2 gene DOID:5419 schizophrenia ISO RGD:736796 D RGD:9068941 20200609 RGD protein:decreased homodimerization:temporal cortex: PMID:20067857|REF_RGD_ID:9835359 12312848 DRD2 dopamine receptor D2 gene DOID:5419 schizophrenia ISO RGD:736796 D RGD:9068941 20200609 RGD protein:increase homodimerization:striatum PMID:20813060|REF_RGD_ID:6907450 12312848 DRD2 dopamine receptor D2 gene DOID:5425 ovarian hyperstimulation syndrome treatment ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:25217874|REF_RGD_ID:13506956 12312848 DRD2 dopamine receptor D2 gene DOID:543 dystonia ISO RGD:736796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:17576681|PMID:25711927|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9536098 12312848 DRD2 dopamine receptor D2 gene DOID:630 genetic disease ISO RGD:736796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28166811|PMID:28492532 12312848 DRD2 dopamine receptor D2 gene DOID:670 amphetamine abuse ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18363855|PMID:18555060|PMID:19940168 12312848 DRD2 dopamine receptor D2 gene DOID:679 basal ganglia disease ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11198054|PMID:12211096|PMID:18480698|PMID:19225277|PMID:19506579 12312848 DRD2 dopamine receptor D2 gene DOID:783 end stage renal disease ISO RGD:736796 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent; DNA:polymorphisms:5'utr, intron: -141delC, G>A (human) PMID:18366720|REF_RGD_ID:2311602 12312848 DRD2 dopamine receptor D2 gene DOID:9000499 Alcoholic Intoxication treatment ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:28300818|REF_RGD_ID:13506954 12312848 DRD2 dopamine receptor D2 gene DOID:9000641 Pain ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15996639 12312848 DRD2 dopamine receptor D2 gene DOID:9000998 Brain Injuries ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:18509630|REF_RGD_ID:2311580 12312848 DRD2 dopamine receptor D2 gene DOID:9001310 Tobacco Use Disorder ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18579413 12312848 DRD2 dopamine receptor D2 gene DOID:9001310 Tobacco Use Disorder ISO RGD:736796 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:enhancer, promoter, intron:multiple PMID:17108814|REF_RGD_ID:1600904 12312848 DRD2 dopamine receptor D2 gene DOID:9002234 Pituitary Neoplasms ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12727942 12312848 DRD2 dopamine receptor D2 gene DOID:9002362 Hyperkinesis ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1975278|PMID:24418703 12312848 DRD2 dopamine receptor D2 gene DOID:9002457 Experimental Arthritis ISO RGD:2520 D RGD:9068941 20200609 RGD mRNA:increased expression:corpus striatum (rat) PMID:23762129|REF_RGD_ID:7248592 12312848 DRD2 dopamine receptor D2 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:23762129|REF_RGD_ID:7248592 12312848 DRD2 dopamine receptor D2 gene DOID:9002554 Tachycardia ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:8287413|REF_RGD_ID:1580884 12312848 DRD2 dopamine receptor D2 gene DOID:9002554 Tachycardia ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10721819|PMID:9777039 12312848 DRD2 dopamine receptor D2 gene DOID:9003805 Catalepsy ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1365866|PMID:3283778|PMID:7845605|PMID:9618422 12312848 DRD2 dopamine receptor D2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:736796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12312848 DRD2 dopamine receptor D2 gene DOID:9004657 Weight Gain ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20375926 12312848 DRD2 dopamine receptor D2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:2520 D RGD:9068941 20200609 RGD protein:increased activity:caudate putamen (rat) PMID:18284941|REF_RGD_ID:2311586 12312848 DRD2 dopamine receptor D2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10900248|PMID:11751029|PMID:11923462|PMID:15010698|PMID:15042275|PMID:16541082|PMID:16971900|PMID:17332411|PMID:18418874|PMID:20494958 12312848 DRD2 dopamine receptor D2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2520 D RGD:9068941 20200609 RGD protein:altered activity:hypothalamus, pancreatic islet, brainstem (rat) PMID:17174299|REF_RGD_ID:1624999 12312848 DRD2 dopamine receptor D2 gene DOID:9005968 Neuralgia ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:22171983|PMID:22902996|REF_RGD_ID:6907443|REF_RGD_ID:6907447 12312848 DRD2 dopamine receptor D2 gene DOID:9006024 Hypotension ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10626749|PMID:12946566|PMID:1724532|PMID:9917201 12312848 DRD2 dopamine receptor D2 gene DOID:9007001 Bradycardia ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10626749|PMID:1724532 12312848 DRD2 dopamine receptor D2 gene DOID:9008023 Memory Disorders ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21592505 12312848 DRD2 dopamine receptor D2 gene DOID:9008086 Developmental Disabilities ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21592505 12312848 DRD2 dopamine receptor D2 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:18707801|REF_RGD_ID:2311579 12312848 DRD2 dopamine receptor D2 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10534246|PMID:14629710|PMID:7845605 12312848 DRD2 dopamine receptor D2 gene DOID:9008675 Dyskinesias ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16435402 12312848 DRD2 dopamine receptor D2 gene DOID:9008953 Binge-Eating Disorder ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:28821448|REF_RGD_ID:13506951 12312848 DRD2 dopamine receptor D2 gene DOID:9008967 Brain Concussion ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:26448536|REF_RGD_ID:13506960 12312848 DRD2 dopamine receptor D2 gene DOID:93 language disorder ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23691092 12312848 DRD2 dopamine receptor D2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736796 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:32806C>T (human) PMID:18834717|REF_RGD_ID:2311601 12312848 DRD2 dopamine receptor D2 gene DOID:9970 obesity ISO RGD:2520 D RGD:9068941 20200609 RGD mRNA:decreased expression:ventral tegmental area (rat) PMID:18477764|REF_RGD_ID:2311581 12312848 DRD2 dopamine receptor D2 gene DOID:9970 obesity ISO RGD:736796 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15939106|REF_RGD_ID:1600905 12312848 DRD2 dopamine receptor D2 gene DOID:9970 obesity ISO RGD:736796 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:enhancer, promoter, intron:multiple PMID:17108814|REF_RGD_ID:1600904 12312848 DRD2 dopamine receptor D2 gene DOID:9975 cocaine dependence ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:29454035|REF_RGD_ID:13506950 12312848 DRD2 dopamine receptor D2 gene DOID:9976 heroin dependence ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:28598964|REF_RGD_ID:13506959 12312848 DRD2 dopamine receptor D2 gene DOID:9976 heroin dependence ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11751029 12312869 BRD2 bromodomain containing 2 gene DOID:0050553 JMP syndrome ISO RGD:1350574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12312869 BRD2 bromodomain containing 2 gene DOID:0050902 medulloblastoma ISO RGD:1350574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24231268 12312869 BRD2 bromodomain containing 2 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1350574 D RGD:9068941 20200609 RGD PMID:14563639|REF_RGD_ID:9586345 12312869 BRD2 bromodomain containing 2 gene DOID:1909 melanoma ISO RGD:1350574 D RGD:9068941 20200609 RGD protein:mRNA:skin: PMID:23950209|REF_RGD_ID:9586346 12312869 BRD2 bromodomain containing 2 gene DOID:2018 hyperinsulinism ISO RGD:1551876 D RGD:9068941 20200609 RGD PMID:19883376|REF_RGD_ID:9586446 12312869 BRD2 bromodomain containing 2 gene DOID:3068 glioblastoma ISO RGD:1350574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27388964 12312869 BRD2 bromodomain containing 2 gene DOID:3159 photosensitivity disease susceptibility ISO RGD:1350574 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: : PMID:16516380|REF_RGD_ID:9586343 12312869 BRD2 bromodomain containing 2 gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:1350574 D RGD:9068941 20200609 RGD DNA:SNPs:promoter (human) PMID:12830434|REF_RGD_ID:1358444 12312869 BRD2 bromodomain containing 2 gene DOID:630 genetic disease ISO RGD:1350574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312869 BRD2 bromodomain containing 2 gene DOID:707 B-cell lymphoma ISO RGD:1350574 D RGD:9068941 20200609 RGD PMID:14563639|REF_RGD_ID:9586345 12312869 BRD2 bromodomain containing 2 gene DOID:9970 obesity ISO RGD:1551876 D RGD:9068941 20200609 RGD PMID:19883376|REF_RGD_ID:9586446 12312900 SRI sorcin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12312900 SRI sorcin gene DOID:6000 congestive heart failure ISO RGD:1584485 D RGD:9068941 20200609 RGD associated with Hypertension PMID:12754254|REF_RGD_ID:7327200 12312900 SRI sorcin gene DOID:6000 congestive heart failure ISO RGD:1584485 D RGD:9068941 20200609 RGD protein:decreased expression:cardiac muscle cell PMID:20945956|REF_RGD_ID:7327198 12312900 SRI sorcin gene DOID:630 genetic disease ISO RGD:1603229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312900 SRI sorcin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603229 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12312900 SRI sorcin gene DOID:9003936 Cardiomegaly ISO RGD:1621397 D RGD:9068941 20200609 RGD PMID:11485922|REF_RGD_ID:7327201 12312900 SRI sorcin gene DOID:9004657 Weight Gain ISO RGD:1603229 D RGD:9068941 20220114 CTD CTD Direct Evidence: therapeutic PMID:33930463 12312915 TRIM42 tripartite motif containing 42 gene DOID:630 genetic disease ISO RGD:1353293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12312927 DYSF dysferlin gene DOID:0070198 Miyoshi muscular dystrophy ISO RGD:1322255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy | ClinVar Annotator: match by term: Miyoshi myopathy | ClinVar Annotator: match by term: Muscular dystrophy, distal, late onset, autosomal recessive PMID:12796534|PMID:14678801|PMID:15469449|PMID:17512949|PMID:17897828|PMID:18832576|PMID:18853459|PMID:19493611|PMID:20535123|PMID:21522182|PMID:22046204|PMID:22297152|PMID:24033266|PMID:24239059|PMID:24438169|PMID:24838345|PMID:25525159|PMID:25741868|PMID:25868377|PMID:25987458|PMID:26077327|PMID:26290895|PMID:26467025|PMID:27365461|PMID:27666772|PMID:28492532|PMID:30107846|PMID:30564623|PMID:32528171|PMID:34906502 12312927 DYSF dysferlin gene DOID:0070199 Miyoshi muscular dystrophy 1 ISO RGD:1322255 D RGD:7240710 20180912 OMIM 12312927 DYSF dysferlin gene DOID:0070199 Miyoshi muscular dystrophy 1 ISO RGD:1322255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 PMID:10196377|PMID:10825360|PMID:11053681|PMID:11468312|PMID:11532985|PMID:12410383|PMID:12796534|PMID:14678801|PMID:15293763|PMID:15469449|PMID:15835269|PMID:16010686|PMID:16087766|PMID:16100712|PMID:16199547|PMID:16891820|PMID:16934466|PMID:16996541|PMID:17070050|PMID:17287450|PMID:17512949|PMID:17576681|PMID:17698709|PMID:17825554|PMID:17897828|PMID:17932988|PMID:17994539|PMID:18276788|PMID:18306167|PMID:18832576|PMID:18853459|PMID:19084402|PMID:19493611|PMID:19528035|PMID:20301480|PMID:20535123|PMID:20544924|PMID:20558759|PMID:20623375|PMID:21484829|PMID:21522182|PMID:21816046|PMID:22046204|PMID:22174839|PMID:22194990|PMID:22246893|PMID:22297152|PMID:22849992|PMID:22910291|PMID:22995991|PMID:23243261|PMID:23757202|PMID:24033266|PMID:24123366|PMID:24239059|PMID:24438169|PMID:24488599|PMID:24838345|PMID:25133958|PMID:25135358|PMID:25312915|PMID:25373139|PMID:25493284|PMID:25525159|PMID:25574751|PMID:25591676|PMID:25741868|PMID:25783436|PMID:25807536|PMID:25821721|PMID:25868377|PMID:26000923|PMID:26060040|PMID:26077327|PMID:26088049|PMID:26290895|PMID:26404900|PMID:26467025|PMID:26579332|PMID:26806107|PMID:26916285|PMID:27066573|PMID:27363342|PMID:27365461|PMID:27447704|PMID:27602406|PMID:27641898|PMID:2764718|PMID:27647186|PMID:27666772|PMID:2766772|PMID:27854218|PMID:27858744|PMID:27884173|PMID:28403181|PMID:28492532|PMID:28904466|PMID:29382405|PMID:29970176|PMID:30028523|PMID:30366248|PMID:30564623|PMID:30919934|PMID:31019989|PMID:31066050|PMID:31475473|PMID:31589614|PMID:31931849|PMID:32400077|PMID:32528171|PMID:32751317|PMID:33610434|PMID:33715265|PMID:33927379|PMID:34559919|PMID:35047756|PMID:8808603|PMID:9536098|PMID:9731526 12312927 DYSF dysferlin gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1322255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:10766988|PMID:11257469|PMID:12796534|PMID:14678801|PMID:15469449|PMID:15827562|PMID:16010686|PMID:16087766|PMID:16100712|PMID:16996541|PMID:17070050|PMID:17512949|PMID:17562833|PMID:17576681|PMID:17698709|PMID:18808059|PMID:18832576|PMID:18853459|PMID:19493611|PMID:19528035|PMID:20301480|PMID:20535123|PMID:20544924|PMID:20558759|PMID:21522182|PMID:21816046|PMID:22194990|PMID:22297152|PMID:22616201|PMID:23243261|PMID:23406536|PMID:23530687|PMID:24033266|PMID:24239059|PMID:24438169|PMID:24488599|PMID:24838345|PMID:25046369|PMID:25135358|PMID:25312915|PMID:25525159|PMID:25591676|PMID:25741868|PMID:25783436|PMID:25868377|PMID:25987458|PMID:26077327|PMID:26088049|PMID:26290895|PMID:26467025|PMID:26916285|PMID:27066573|PMID:27229680|PMID:27365461|PMID:27602406|PMID:27647186|PMID:27666772|PMID:27858744|PMID:27884173|PMID:28403181|PMID:28492532|PMID:28904466|PMID:30107846|PMID:30564623|PMID:30919934|PMID:31019989|PMID:31407473|PMID:32400077|PMID:32528171|PMID:32576226|PMID:33250842|PMID:33610434|PMID:33715265|PMID:33927379|PMID:34440373|PMID:34559919|PMID:34906502|PMID:35135626|PMID:9536098 12312927 DYSF dysferlin gene DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B ISO RGD:1322255 D RGD:7240710 20180130 OMIM 12312927 DYSF dysferlin gene DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B ISO RGD:1322255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2B | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 PMID:10196377|PMID:10766988|PMID:11053681|PMID:11257469|PMID:11468312|PMID:11532985|PMID:12410383|PMID:12471055|PMID:12796534|PMID:14673575|PMID:14678801|PMID:1483054|PMID:15293763|PMID:15469449|PMID:15477515|PMID:15827562|PMID:15835269|PMID:16010686|PMID:16087766|PMID:16100712|PMID:16199547|PMID:16606933|PMID:16705711|PMID:16891820|PMID:16934466|PMID:16996541|PMID:17070050|PMID:17287450|PMID:17331981|PMID:17512949|PMID:17562833|PMID:17576681|PMID:17698709|PMID:17825554|PMID:17828519|PMID:17897828|PMID:17994539|PMID:18276788|PMID:18294055|PMID:18306167|PMID:18392839|PMID:18808059|PMID:18832576|PMID:18853459|PMID:19015158|PMID:19084402|PMID:19154541|PMID:19493611|PMID:19528035|PMID:19953532|PMID:20301480|PMID:20497525|PMID:20535123|PMID:20544924|PMID:20558759|PMID:20623375|PMID:20817457|PMID:20981092|PMID:21173544|PMID:21392994|PMID:21484829|PMID:21520333|PMID:21522182|PMID:21816046|PMID:22046204|PMID:22057634|PMID:22174839|PMID:22194990|PMID:22246893|PMID:22297152|PMID:22318734|PMID:22616201|PMID:22849992|PMID:22910291|PMID:22995991|PMID:23185377|PMID:23243261|PMID:23254335|PMID:23406536|PMID:23519732|PMID:23530687|PMID:23641709|PMID:23757202|PMID:24033266|PMID:24123366|PMID:24239059|PMID:24438169|PMID:24488599|PMID:24838345|PMID:25046369|PMID:25133958|PMID:25135358|PMID:25143362|PMID:25312915|PMID:25326637|PMID:25373139|PMID:25493284|PMID:25525159|PMID:25574751|PMID:25591676|PMID:25591678|PMID:25741868|PMID:25783436|PMID:25807536|PMID:25821721|PMID:25868377|PMID:25898921|PMID:25900324|PMID:25987458|PMID:26000923|PMID:2606004|PMID:26060040|PMID:26077327|PMID:26088049|PMID:26273692|PMID:26290895|PMID:26404900|PMID:26436962|PMID:26444858|PMID:26467025|PMID:26579332|PMID:26671124|PMID:26764160|PMID:26806107|PMID:26916285|PMID:27066573|PMID:27104310|PMID:27195159|PMID:27229680|PMID:27290639|PMID:27363342|PMID:27365461|PMID:27447704|PMID:27602406|PMID:27641898|PMID:2764718|PMID:27647186|PMID:27666772|PMID:2766772|PMID:27821570|PMID:27854218|PMID:27858744|PMID:27884173|PMID:28104817|PMID:28403181|PMID:28492532|PMID:28600779|PMID:28877744|PMID:29138090|PMID:29382405|PMID:29797799|PMID:29970176|PMID:30028523|PMID:30098242|PMID:30107846|PMID:30292141|PMID:30366248|PMID:30564623|PMID:30919934|PMID:31066050|PMID:31268554|PMID:31407473|PMID:31475473|PMID:31589614|PMID:31931849|PMID:32140910|PMID:32400077|PMID:32419263|PMID:32528171|PMID:32576226|PMID:32751317|PMID:32860008|PMID:33144682|PMID:33250842|PMID:33610434|PMID:33715265|PMID:33927379|PMID:34440373|PMID:34559919|PMID:34906502|PMID:35047756|PMID:35135626|PMID:8808603|PMID:9536098|PMID:9731526|PMID:9731527 12312927 DYSF dysferlin gene DOID:0111187 distal muscular dystrophy with anterior tibial onset ISO RGD:1322255 D RGD:7240710 20180130 OMIM 12312927 DYSF dysferlin gene DOID:0111187 distal muscular dystrophy with anterior tibial onset ISO RGD:1322255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal myopathy with anterior tibial onset PMID:11053681|PMID:11198284|PMID:11468312|PMID:11532985|PMID:12410383|PMID:12796534|PMID:14678801|PMID:15469449|PMID:15835269|PMID:16010686|PMID:16087766|PMID:16100712|PMID:16199547|PMID:16891820|PMID:16934466|PMID:17070050|PMID:17512949|PMID:17576681|PMID:17698709|PMID:17897828|PMID:17994539|PMID:18276788|PMID:18832576|PMID:18853459|PMID:19493611|PMID:19528035|PMID:20301480|PMID:20535123|PMID:20544924|PMID:20558759|PMID:21484829|PMID:21522182|PMID:21816046|PMID:22046204|PMID:22174839|PMID:22194990|PMID:22246893|PMID:22297152|PMID:22995991|PMID:23243261|PMID:23757202|PMID:24033266|PMID:24123366|PMID:24239059|PMID:24438169|PMID:24488599|PMID:24838345|PMID:25135358|PMID:25312915|PMID:25493284|PMID:25525159|PMID:25591676|PMID:25741868|PMID:25783436|PMID:25807536|PMID:25868377|PMID:26000923|PMID:26077327|PMID:26088049|PMID:26404900|PMID:26467025|PMID:26806107|PMID:26916285|PMID:27066573|PMID:27363342|PMID:27365461|PMID:27447704|PMID:27602406|PMID:27647186|PMID:27666772|PMID:2766772|PMID:27821570|PMID:27854218|PMID:27858744|PMID:28403181|PMID:28492532|PMID:29382405|PMID:30028523|PMID:30564623|PMID:30919934|PMID:31475473|PMID:31589614|PMID:31931849|PMID:32528171|PMID:32576226|PMID:32751317|PMID:33610434|PMID:33613410|PMID:33715265|PMID:33927379|PMID:34559919|PMID:9536098|PMID:9731526 12312927 DYSF dysferlin gene DOID:11720 distal myopathy ISO RGD:1322256 D RGD:9068941 20220825 MouseDO OMIM:160300 | OMIM:160500 | OMIM:254130 | OMIM:606768 | OMIM:607569 | OMIM:610099 | OMIM:613318 | OMIM:613319 | OMIM:614065 | OMIM:614321 12312927 DYSF dysferlin gene DOID:14669 acrodysostosis ISO RGD:1322255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Peripheral dysostosis PMID:11257469|PMID:16100712|PMID:17070050|PMID:17576681|PMID:18853459|PMID:20535123|PMID:21522182|PMID:22194990|PMID:25741868|PMID:26088049|PMID:26467025|PMID:27647186|PMID:27666772|PMID:28492532|PMID:9536098 12312927 DYSF dysferlin gene DOID:423 myopathy ISO RGD:1322255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy 12312927 DYSF dysferlin gene DOID:5419 schizophrenia ISO RGD:1322255 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12312927 DYSF dysferlin gene DOID:543 dystonia ISO RGD:1322255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12312927 DYSF dysferlin gene DOID:574 peripheral nervous system disease ISO RGD:1322255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12312927 DYSF dysferlin gene DOID:630 genetic disease ISO RGD:1322255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17070050|PMID:21522182|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532 12312927 DYSF dysferlin gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1322255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12312927 DYSF dysferlin gene DOID:870 neuropathy ISO RGD:1322255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12312927 DYSF dysferlin gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1322255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12312927 DYSF dysferlin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12312927 DYSF dysferlin gene DOID:9004518 Dysferlinopathy ISO RGD:1322255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dysferlinopathy PMID:10196377|PMID:10766988|PMID:11053681|PMID:11198284|PMID:11257469|PMID:11468312|PMID:11532985|PMID:12410383|PMID:12796534|PMID:14673575|PMID:14678801|PMID:15293763|PMID:15469449|PMID:15477515|PMID:15515206|PMID:15827562|PMID:15835269|PMID:16010686|PMID:16087766|PMID:16100712|PMID:16199547|PMID:16705711|PMID:16891820|PMID:16934466|PMID:16996541|PMID:1707005|PMID:17070050|PMID:17129727|PMID:17287450|PMID:17331981|PMID:17512949|PMID:17562833|PMID:17576681|PMID:17698709|PMID:17825554|PMID:17828519|PMID:17897828|PMID:17994539|PMID:18276788|PMID:18294055|PMID:18306167|PMID:18392839|PMID:18396043|PMID:18808059|PMID:18832576|PMID:18853459|PMID:19015158|PMID:19084402|PMID:19154541|PMID:19309282|PMID:19493611|PMID:19528035|PMID:19594366|PMID:19763152|PMID:19953532|PMID:20301480|PMID:20307669|PMID:20497525|PMID:20535123|PMID:20544924|PMID:20558759|PMID:20623375|PMID:20817457|PMID:20981092|PMID:21173544|PMID:21392994|PMID:21484829|PMID:21520333|PMID:21522182|PMID:21816046|PMID:22046204|PMID:22057634|PMID:22174839|PMID:22194990|PMID:22246893|PMID:22297152|PMID:22318734|PMID:22406018|PMID:22616201|PMID:22849992|PMID:22910291|PMID:22995991|PMID:23185377|PMID:23243261|PMID:23254335|PMID:23406536|PMID:23488891|PMID:23519732|PMID:23530687|PMID:23641709|PMID:23757202|PMID:24033266|PMID:24123366|PMID:24239059|PMID:24438169|PMID:24488599|PMID:24838345|PMID:25046369|PMID:25133958|PMID:25135358|PMID:25143362|PMID:25214167|PMID:25312915|PMID:25326637|PMID:25373139|PMID:25493284|PMID:25525159|PMID:25574751|PMID:25591676|PMID:25591678|PMID:25640679|PMID:25741868|PMID:25783436|PMID:25807536|PMID:25821721|PMID:25868377|PMID:25898921|PMID:25900324|PMID:25987458|PMID:26000923|PMID:2606004|PMID:26060040|PMID:26077327|PMID:26088049|PMID:26273692|PMID:26290895|PMID:26404900|PMID:26436962|PMID:26444858|PMID:26467025|PMID:26579332|PMID:26620441|PMID:26671124|PMID:26764160|PMID:26806107|PMID:26916285|PMID:27066573|PMID:27104310|PMID:27195159|PMID:27229680|PMID:27290639|PMID:27347015|PMID:27363342|PMID:27365461|PMID:27447704|PMID:27602406|PMID:27641898|PMID:27647186|PMID:27666772|PMID:2766772|PMID:27671536|PMID:27821570|PMID:27854218|PMID:27858744|PMID:27884173|PMID:28104817|PMID:28403181|PMID:28492532|PMID:28600779|PMID:28877744|PMID:28904466|PMID:29138090|PMID:29382405|PMID:29797799|PMID:29970176|PMID:29997562|PMID:30028523|PMID:30098242|PMID:30107846|PMID:30292141|PMID:30366248|PMID:30564623|PMID:30919934|PMID:31019989|PMID:31066050|PMID:31268554|PMID:31407473|PMID:31475473|PMID:31589614|PMID:31931849|PMID:32140910|PMID:32400077|PMID:32419263|PMID:32528171|PMID:32576226|PMID:32751317|PMID:32860008|PMID:33144682|PMID:33250842|PMID:33348118|PMID:33610434|PMID:33613410|PMID:33715265|PMID:33927379|PMID:34281941|PMID:34440373|PMID:34559919|PMID:34906502|PMID:35047756|PMID:35135626|PMID:8808603|PMID:9536098|PMID:9731526 12312927 DYSF dysferlin gene DOID:9005532 Muscle Weakness ISO RGD:1322255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868 12312927 DYSF dysferlin gene DOID:9006785 Congenital Myopathy 5 with Cardiomyopathy ISO RGD:1322255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:25741868|PMID:28492532 12312927 DYSF dysferlin gene DOID:9884 muscular dystrophy ISO RGD:1322255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:17698709|PMID:20301480|PMID:21522182|PMID:24033266|PMID:25741868|PMID:27884173|PMID:28492532 12313007 OR4D11 olfactory receptor family 4 subfamily D member 11 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1351925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12313007 OR4D11 olfactory receptor family 4 subfamily D member 11 gene DOID:1059 intellectual disability ISO RGD:1351925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12313007 OR4D11 olfactory receptor family 4 subfamily D member 11 gene DOID:630 genetic disease ISO RGD:1351925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12313010 MYRF myelin regulatory factor gene DOID:0050773 paraganglioma ISO RGD:1315345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:22241717|PMID:26096992|PMID:28492532 12313010 MYRF myelin regulatory factor gene DOID:0080634 nanophthalmos ISO RGD:1315345 D RGD:9068941 20230323 RGD DNA:mutations:cds: PMID:31048900|REF_RGD_ID:197810045 12313010 MYRF myelin regulatory factor gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1315345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12313010 MYRF myelin regulatory factor gene DOID:10283 prostate cancer ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12313010 MYRF myelin regulatory factor gene DOID:1059 intellectual disability ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12313010 MYRF myelin regulatory factor gene DOID:1405 primary angle-closure glaucoma ISO RGD:1315345 D RGD:9068941 20230323 RGD DNA:mutations:multiple: PMID:36129575|REF_RGD_ID:199225554 12313010 MYRF myelin regulatory factor gene DOID:1682 congenital heart disease ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:30532227 12313010 MYRF myelin regulatory factor gene DOID:1826 epilepsy ISO RGD:1315345 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12313010 MYRF myelin regulatory factor gene DOID:1923 disorder of sexual development ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation PMID:25741868 12313010 MYRF myelin regulatory factor gene DOID:3526 cerebral infarction ISO RGD:1315345 D RGD:9068941 20230323 RGD DNA:SNP:exon:rs174535(human) PMID:36193932|REF_RGD_ID:213230151 12313010 MYRF myelin regulatory factor gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1315345 D RGD:9068941 20230323 RGD DNA:mutations:multiple: PMID:30532227|REF_RGD_ID:200226345 12313010 MYRF myelin regulatory factor gene DOID:4297 scimitar syndrome ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scimitar anomaly PMID:25741868 12313010 MYRF myelin regulatory factor gene DOID:630 genetic disease ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12313010 MYRF myelin regulatory factor gene DOID:8466 retinal degeneration ISO RGD:1615698 D RGD:9068941 20230323 RGD PMID:31048900|REF_RGD_ID:197810045 12313010 MYRF myelin regulatory factor gene DOID:9000039 Spinal Cord Injuries ameliorates ISO RGD:1306622 D RGD:9068941 20230323 RGD PMID:27370227|REF_RGD_ID:213230157 12313010 MYRF myelin regulatory factor gene DOID:9000486 Nanophthalmos 1 ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nanophthalmos 1 12313010 MYRF myelin regulatory factor gene DOID:9003497 Mild Encephalitis/Encephalopathy with Reversible Myelin Vacuolization ISO RGD:1315345 D RGD:7240710 20190417 OMIM 12313010 MYRF myelin regulatory factor gene DOID:9003497 Mild Encephalitis/Encephalopathy with Reversible Myelin Vacuolization ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalitis/encephalopathy, mild, with reversible myelin vacuolization PMID:20042198|PMID:25741868|PMID:29265453 12313010 MYRF myelin regulatory factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315345 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12313010 MYRF myelin regulatory factor gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:1315345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:22241717|PMID:26096992|PMID:28492532 12313010 MYRF myelin regulatory factor gene DOID:9007553 neurotoxicity treatment ISO RGD:1306622 D RGD:9068941 20230323 RGD PMID:33166664|REF_RGD_ID:213230154 12313010 MYRF myelin regulatory factor gene DOID:9007788 Cardiac-Urogenital Syndrome ISO RGD:1315345 D RGD:7240710 20190501 OMIM 12313010 MYRF myelin regulatory factor gene DOID:9007788 Cardiac-Urogenital Syndrome ISO RGD:1315345 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiac-urogenital syndrome PMID:25741868|PMID:29446546|PMID:30070761|PMID:30532227|PMID:30985895|PMID:31266062|PMID:31633846|PMID:34782754 12313010 MYRF myelin regulatory factor gene DOID:9008091 Optic Nerve Injuries ISO RGD:1306622 D RGD:9068941 20230323 RGD mRNA:decreased expression: oligodendrocyte PMID:29915135|REF_RGD_ID:213230153 12313010 MYRF myelin regulatory factor gene DOID:9008386 Hydrops Fetalis ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 12313010 MYRF myelin regulatory factor gene DOID:9008582 Developmental Disease ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12313010 MYRF myelin regulatory factor gene DOID:9565 dextrocardia ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dextrocardia PMID:25741868|PMID:30532227 12313010 MYRF myelin regulatory factor gene DOID:9834 hyperopia ISO RGD:1315345 D RGD:9068941 20230323 RGD DNA:mutations:multiple: PMID:36129575|REF_RGD_ID:199225554 12313058 ENAH ENAH actin regulator gene DOID:1540 parathyroid carcinoma ISO RGD:1316988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12313058 ENAH ENAH actin regulator gene DOID:630 genetic disease ISO RGD:1316988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12313058 ENAH ENAH actin regulator gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1316988 D RGD:9068941 20230105 RGD mRNA:increased expression:liver (human) PMID:35030977|REF_RGD_ID:155791678 12313058 ENAH ENAH actin regulator gene DOID:9119 acute myeloid leukemia ISO RGD:1316988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26237430 12313058 ENAH ENAH actin regulator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12313101 LIG3 DNA ligase 3 gene DOID:1793 pancreatic cancer resistance ISO RGD:1320452 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs 2074522 (human) PMID:19147782|REF_RGD_ID:2317363 12313101 LIG3 DNA ligase 3 gene DOID:630 genetic disease ISO RGD:1320452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12313101 LIG3 DNA ligase 3 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1320452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 12313101 LIG3 DNA ligase 3 gene DOID:9001068 Mitochondrial DNA Depletion Syndrome 20 ISO RGD:1320452 D RGD:7240710 20220330 OMIM 12313101 LIG3 DNA ligase 3 gene DOID:9001068 Mitochondrial DNA Depletion Syndrome 20 ISO RGD:1320452 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 20 (mngie type) PMID:25741868|PMID:33855352|PMID:34165507 12313101 LIG3 DNA ligase 3 gene DOID:9004009 Reperfusion Injury ISO RGD:1309875 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17412650|REF_RGD_ID:2302580 12313101 LIG3 DNA ligase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12313139 PRKCD protein kinase C delta gene DOID:0080000 muscular disease ISO RGD:67383 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:skeletal muscle PMID:9458880|REF_RGD_ID:1642535 12313139 PRKCD protein kinase C delta gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29341352 12313139 PRKCD protein kinase C delta gene DOID:0080855 Parkinsonism ISO RGD:69026 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15681813 12313139 PRKCD protein kinase C delta gene DOID:0110119 autoimmune lymphoproliferative syndrome type 3 ISO RGD:69026 D RGD:7240710 20180130 OMIM 12313139 PRKCD protein kinase C delta gene DOID:0110119 autoimmune lymphoproliferative syndrome type 3 ISO RGD:69026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III PMID:11976687|PMID:16199547|PMID:17576681|PMID:23319571|PMID:23430113|PMID:24033266|PMID:25741868|PMID:26546672|PMID:28492532|PMID:30257684|PMID:34264265|PMID:9536098 12313139 PRKCD protein kinase C delta gene DOID:10762 portal hypertension ISO RGD:69026 D RGD:9068941 20200609 RGD mRNA:decreased expression:spleen, macrophage PMID:17659678|REF_RGD_ID:1642521 12313139 PRKCD protein kinase C delta gene DOID:10763 hypertension ISO RGD:67383 D RGD:9068941 20200609 RGD PMID:15792354|REF_RGD_ID:1581271 12313139 PRKCD protein kinase C delta gene DOID:10763 hypertension ISO RGD:67383 D RGD:9068941 20200609 RGD protein:increased expression:heart, fibroblast PMID:10756122|REF_RGD_ID:1642534 12313139 PRKCD protein kinase C delta gene DOID:10763 hypertension ISO RGD:69026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23973649 12313139 PRKCD protein kinase C delta gene DOID:10763 hypertension ISO RGD:69026 D RGD:9068941 20200609 RGD protein:increased expression:heart, fibroblast PMID:10756122|REF_RGD_ID:1642534 12313139 PRKCD protein kinase C delta gene DOID:10763 hypertension ISO RGD:69027 D RGD:9068941 20200609 RGD protein:increased expression:heart, fibroblast PMID:10756122|REF_RGD_ID:1642534 12313139 PRKCD protein kinase C delta gene DOID:2018 hyperinsulinism ISO RGD:67383 D RGD:9068941 20200609 RGD PMID:8826977|REF_RGD_ID:1625605 12313139 PRKCD protein kinase C delta gene DOID:2316 brain ischemia ISO RGD:67383 D RGD:9068941 20200609 RGD PMID:17350602|REF_RGD_ID:1642524 12313139 PRKCD protein kinase C delta gene DOID:3602 toxic encephalopathy ISO RGD:69026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22512859 12313139 PRKCD protein kinase C delta gene DOID:397 restrictive cardiomyopathy ISO RGD:67383 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:heart ventricle PMID:9458880|REF_RGD_ID:1642535 12313139 PRKCD protein kinase C delta gene DOID:630 genetic disease ISO RGD:69026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12313139 PRKCD protein kinase C delta gene DOID:9000972 Fever ISO RGD:69026 D RGD:9068941 20200910 CTD CTD Direct Evidence: therapeutic PMID:31422080|PMID:32437895 12313139 PRKCD protein kinase C delta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12313139 PRKCD protein kinase C delta gene DOID:9002245 Intestinal Neoplasms ISO RGD:69026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11983831 12313139 PRKCD protein kinase C delta gene DOID:9002395 Hypothermia ISO RGD:69026 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30366073 12313139 PRKCD protein kinase C delta gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:67383 D RGD:9068941 20200609 RGD PMID:15532718|REF_RGD_ID:1581272 12313139 PRKCD protein kinase C delta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:67383 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:11576956|REF_RGD_ID:1642532 12313139 PRKCD protein kinase C delta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12198386 12313139 PRKCD protein kinase C delta gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:67383 D RGD:9068941 20200609 RGD PMID:15532718|REF_RGD_ID:1581272 12313139 PRKCD protein kinase C delta gene DOID:9007096 Stroke ISO RGD:67383 D RGD:9068941 20200609 RGD PMID:17350602|REF_RGD_ID:1642524 12313139 PRKCD protein kinase C delta gene DOID:9007102 Myocardial Ischemia ISO RGD:67383 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, altered phosphorylation:heart PMID:16924416|REF_RGD_ID:1642550 12313139 PRKCD protein kinase C delta gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:69026 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30393195 12313139 PRKCD protein kinase C delta gene DOID:9007692 Insulin Resistance ISO RGD:67383 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:12217885|REF_RGD_ID:729667 12313139 PRKCD protein kinase C delta gene DOID:9007692 Insulin Resistance ISO RGD:69027 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased activity:adipocyte PMID:15507533|REF_RGD_ID:1642527 12313139 PRKCD protein kinase C delta gene DOID:9007730 Burns ISO RGD:67383 D RGD:9068941 20200609 RGD protein:altered localization:cardiac muscle cell PMID:16990486|REF_RGD_ID:1642547 12313139 PRKCD protein kinase C delta gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:67383 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:17322024|REF_RGD_ID:1642542 12313139 PRKCD protein kinase C delta gene DOID:9452 fatty liver disease ISO RGD:69026 D RGD:9068941 20200609 RGD PMID:17596878|REF_RGD_ID:1642523 12313139 PRKCD protein kinase C delta gene DOID:9970 obesity ISO RGD:67383 D RGD:9068941 20200609 RGD protein:decreased expression:heart ventricle PMID:11478406|REF_RGD_ID:1642533 12313139 Prkcd protein kinase C, delta gene DOID:9003936 Cardiomegaly ISO RGD:67383 D RGD:9068941 20200609 RGD associated with Hypertension PMID:15792354|REF_RGD_ID:1581271 12313173 SPHKAP SPHK1 interactor, AKAP domain containing gene DOID:6000 congestive heart failure ISO RGD:1604287 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12313173 SPHKAP SPHK1 interactor, AKAP domain containing gene DOID:630 genetic disease ISO RGD:1604287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12313191 SYNPO2 synaptopodin 2 gene DOID:4001 ovarian carcinoma ISO RGD:1344756 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:25581431 12313191 SYNPO2 synaptopodin 2 gene DOID:630 genetic disease ISO RGD:1344756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12313191 SYNPO2 synaptopodin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12313203 SLC9A4 solute carrier family 9 member A4 gene DOID:0080685 aortic dissection ISO RGD:1606087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:34409081 12313203 SLC9A4 solute carrier family 9 member A4 gene DOID:630 genetic disease ISO RGD:1606087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12313203 SLC9A4 solute carrier family 9 member A4 gene DOID:9002802 Acidoses ISO RGD:1606087 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20484819 12313232 MIRLET7A-1 microRNA let-7a-1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1353923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12313232 MIRLET7A-1 microRNA let-7a-1 gene DOID:1059 intellectual disability ISO RGD:1353923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12313235 MIR16-1 microRNA mir-16-1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1346096 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21056550 12313235 MIR16-1 microRNA mir-16-1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1346096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12313235 MIR16-1 microRNA mir-16-1 gene DOID:1059 intellectual disability ISO RGD:1346096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12313293 CS citrate synthase gene DOID:0050700 cardiomyopathy ISO RGD:1606843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14568902 12313293 CS citrate synthase gene DOID:0050852 limb ischemia ISO RGD:620330 D RGD:9068941 20230413 RGD PMID:571116|REF_RGD_ID:243049254 12313293 CS citrate synthase gene DOID:0060224 atrial fibrillation ISO RGD:733217 D RGD:9068941 20230406 RGD protein:decreased expression:left cardiac atrium PMID:35013064|REF_RGD_ID:243048475 12313293 CS citrate synthase gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1606843 D RGD:9068941 20230406 RGD PMID:10354207|REF_RGD_ID:243048483 12313293 CS citrate synthase gene DOID:12930 dilated cardiomyopathy ISO RGD:1606843 D RGD:9068941 20230406 RGD PMID:10354207|PMID:8252591|REF_RGD_ID:243048472|REF_RGD_ID:243048483 12313293 CS citrate synthase gene DOID:1459 hypothyroidism ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:15817832|PMID:29748131|REF_RGD_ID:243048477|REF_RGD_ID:243048482 12313293 CS citrate synthase gene DOID:3312 bipolar disorder ISO RGD:620330 D RGD:9068941 20230427 RGD protein decreased expression:brain PMID:24359811|REF_RGD_ID:329337349 12313293 CS citrate synthase gene DOID:3312 bipolar disorder ISO RGD:620330 D RGD:9068941 20230427 RGD protein decreased expression:prefrontal cortex PMID:20372980|REF_RGD_ID:329337348 12313293 CS citrate synthase gene DOID:3312 bipolar disorder treatment ISO RGD:620330 D RGD:9068941 20230427 RGD PMID:17367908|REF_RGD_ID:329337351 12313293 CS citrate synthase gene DOID:5844 myocardial infarction ISO RGD:733217 D RGD:9068941 20230406 RGD protein:decreased expression:diaphragm, mitochondrion PMID:34416105|REF_RGD_ID:243048471 12313293 CS citrate synthase gene DOID:5844 myocardial infarction severity ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:1877670|REF_RGD_ID:243048469 12313293 CS citrate synthase gene DOID:6000 congestive heart failure ISO RGD:1606843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8922916 12313293 CS citrate synthase gene DOID:6000 congestive heart failure ISO RGD:620330 D RGD:9068941 20230406 RGD associated with pulmonary hypertension PMID:23099843|REF_RGD_ID:243048480 12313293 CS citrate synthase gene DOID:6000 congestive heart failure severity ISO RGD:620330 D RGD:9068941 20230413 RGD PMID:7484170|REF_RGD_ID:243049253 12313293 CS citrate synthase gene DOID:6000 congestive heart failure treatment ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:28492791|REF_RGD_ID:243048466 12313293 CS citrate synthase gene DOID:630 genetic disease ISO RGD:1606843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12313293 CS citrate synthase gene DOID:7998 hyperthyroidism ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:15817832|REF_RGD_ID:243048477 12313293 CS citrate synthase gene DOID:9001747 Ventricular Dysfunction, Left treatment ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:31403269|REF_RGD_ID:243048473 12313293 CS citrate synthase gene DOID:9002055 Chronic Allograft Nephropathy treatment ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:20005400|REF_RGD_ID:243048470 12313293 CS citrate synthase gene DOID:9002159 Liver Reperfusion Injury ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:25416448|REF_RGD_ID:13504849 12313293 CS citrate synthase gene DOID:9002669 Hypoxia ISO RGD:1606843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 12313293 CS citrate synthase gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:15132986|REF_RGD_ID:243048479 12313293 CS citrate synthase gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:15569775|REF_RGD_ID:243048481 12313293 CS citrate synthase gene DOID:9003936 Cardiomegaly ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:12941647|REF_RGD_ID:243048478 12313293 CS citrate synthase gene DOID:9004484 Sepsis ISO RGD:620330 D RGD:9068941 20230427 RGD protein:decreased expression:cerebral cortex PMID:25299715|REF_RGD_ID:329337347 12313293 CS citrate synthase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620330 D RGD:9068941 20230427 RGD protein decreased expression:heart, soleus PMID:12077722|REF_RGD_ID:329337354 12313293 CS citrate synthase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620330 D RGD:9068941 20230427 RGD protein:increased expression:hippocampus PMID:21088877|REF_RGD_ID:329337352 12313293 CS citrate synthase gene DOID:9005930 Endotoxemia ISO RGD:620330 D RGD:9068941 20230427 RGD protein:increased expression:gastrocnemius PMID:25674200|REF_RGD_ID:329337350 12313293 CS citrate synthase gene DOID:9970 obesity ISO RGD:1606843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12313323 PHF5A PHD finger protein 5A gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1348043 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12313323 PHF5A PHD finger protein 5A gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1348043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 12313334 DLA88 MHC class I DLA-88 gene DOID:0040007 abacavir allergy ISO RGD:1352836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abacavir hypersensitivity PMID:11888582|PMID:11943262|PMID:12462283|PMID:15024131|PMID:15247624|PMID:15247625|PMID:18256392|PMID:19483685 12313334 DLA88 MHC class I DLA-88 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1352836 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:15057820|PMID:15743917|PMID:16538176|PMID:18855540|PMID:19694795|PMID:19915237|PMID:20235791|PMID:20485159|PMID:21428768|PMID:25099164 12313334 DLA88 MHC class I DLA-88 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphism:cds:HLA-B*5801 (human, Japanese) PMID:19018717|REF_RGD_ID:7364874 12313334 DLA88 MHC class I DLA-88 gene DOID:0050426 Stevens-Johnson syndrome susceptibility ISO RGD:1352836 D RGD:9068941 20230506 RGD DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02 (human) PMID:23692434|REF_RGD_ID:7365090 12313334 DLA88 MHC class I DLA-88 gene DOID:0050486 exanthem ISO RGD:1352836 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 12313334 DLA88 MHC class I DLA-88 gene DOID:0050553 JMP syndrome ISO RGD:1352836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12313334 DLA88 MHC class I DLA-88 gene DOID:0060180 colitis ISO RGD:1352836 D RGD:9068941 20211008 RGD human gene in rat model; DNA:polymorphism:cds:HLA-B27 (human) PMID:2257626|REF_RGD_ID:7387221 12313334 DLA88 MHC class I DLA-88 gene DOID:0060500 drug allergy ISO RGD:1352836 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:11943262|PMID:15024131|PMID:17392574|PMID:18007983 12313334 DLA88 MHC class I DLA-88 gene DOID:0080160 cytomegalovirus retinitis ISO RGD:1352836 D RGD:9068941 20211008 RGD associated with HIV Infections; DNA:polymorphisms, haplotype:cds:HLA-B44 (human) PMID:11564593|REF_RGD_ID:7365106 12313334 DLA88 MHC class I DLA-88 gene DOID:0080600 COVID-19 ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphism:cds:HLA-B*15:27 (human) PMID:32424945|REF_RGD_ID:32716370 12313334 DLA88 MHC class I DLA-88 gene DOID:0080750 erythema nodosum ISO RGD:1352836 D RGD:9068941 20211008 RGD associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:multiple (human) PMID:12198697|REF_RGD_ID:7364926 12313334 DLA88 MHC class I DLA-88 gene DOID:0080820 occupational asthma susceptibility ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:SNP: :rs1811197(human) PMID:24709764|REF_RGD_ID:13506912 12313334 DLA88 MHC class I DLA-88 gene DOID:0111079 birdshot chorioretinopathy ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphism:cds:HLA-B12 (human) PMID:3341436|REF_RGD_ID:7365121 12313334 DLA88 MHC class I DLA-88 gene DOID:10003 sensorineural hearing loss ISO RGD:1352836 D RGD:9068941 20211008 RGD associated with Behcet Syndrome; DNA:polymorphism:cds:HLA-B51 (human) PMID:15855027|REF_RGD_ID:7364915 12313334 DLA88 MHC class I DLA-88 gene DOID:10223 dermatomyositis ISO RGD:1352836 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:3501473 12313334 DLA88 MHC class I DLA-88 gene DOID:10952 nephritis ISO RGD:1352836 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:3084782 12313334 DLA88 MHC class I DLA-88 gene DOID:1123 spondyloarthropathy ISO RGD:1352836 D RGD:9068941 20211008 RGD human gene in a rat model;DNA:polymorphism:cds:HLA-B27 (human) PMID:2257626|REF_RGD_ID:7387221 12313334 DLA88 MHC class I DLA-88 gene DOID:1123 spondyloarthropathy no_association ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphism:cds:HLA-B2705 (human) PMID:21927904|REF_RGD_ID:10755579 12313334 DLA88 MHC class I DLA-88 gene DOID:11265 trachoma ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphism:cds:HLA-B*14 (human, Tanzanian) PMID:18824733|REF_RGD_ID:7364877 12313334 DLA88 MHC class I DLA-88 gene DOID:11335 sarcoidosis susceptibility ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphisms:cds:HLA-B-7, HLA-B-8 (human) PMID:23808178|REF_RGD_ID:7364872 12313334 DLA88 MHC class I DLA-88 gene DOID:11372 megacolon ISO RGD:1352836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12313334 DLA88 MHC class I DLA-88 gene DOID:11563 retinal vasculitis ISO RGD:1352836 D RGD:9068941 20211008 RGD associated with Behcet Syndrome; DNA:polymorphism:cds HLA B-5 (human) PMID:12608042|REF_RGD_ID:7364920 12313334 DLA88 MHC class I DLA-88 gene DOID:1205 allergic disease ISO RGD:1352836 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23541086 12313334 DLA88 MHC class I DLA-88 gene DOID:12185 otosclerosis susceptibility ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphisms:cds:HLA-B*35, HLA-B*51 (human, Tunisian) PMID:22471616|REF_RGD_ID:7364875 12313334 DLA88 MHC class I DLA-88 gene DOID:12361 Graves' disease ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphism:cds:HLA-B39 (human) PMID:8894996|REF_RGD_ID:7365110 12313334 DLA88 MHC class I DLA-88 gene DOID:12361 Graves' disease onset ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphism:cds:HLA-B8 (human) PMID:2401095|REF_RGD_ID:7365118 12313334 DLA88 MHC class I DLA-88 gene DOID:12361 Graves' disease susceptibility ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphism, haplotype:cds:HLA-B*5801 (human) PMID:12694583|REF_RGD_ID:7365098 12313334 DLA88 MHC class I DLA-88 gene DOID:12361 Graves' disease susceptibility ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphism, haplotype:cds:HLA-B8 (human) PMID:8096501|REF_RGD_ID:7365112 12313334 DLA88 MHC class I DLA-88 gene DOID:12361 Graves' disease susceptibility ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphism:cds:HLA-B*46 (human) PMID:23329888|REF_RGD_ID:7365094 12313334 DLA88 MHC class I DLA-88 gene DOID:13025 retinopathy of prematurity ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphism:cds:HLA-B*38 (human) PMID:24033735|REF_RGD_ID:7365093 12313334 DLA88 MHC class I DLA-88 gene DOID:13141 uveitis onset ISO RGD:1352836 D RGD:9068941 20211008 RGD associated with Behcet Syndrome; DNA:polymorphisms:cds:HLA-B*51 (human) PMID:23831258|REF_RGD_ID:7364788 12313334 DLA88 MHC class I DLA-88 gene DOID:13141 uveitis treatment ISO RGD:1352836 D RGD:9068941 20211008 RGD PMID:9232451|REF_RGD_ID:7364942 12313334 DLA88 MHC class I DLA-88 gene DOID:13241 Behcet's disease ISO RGD:1352836 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20622878|PMID:23396137 12313334 DLA88 MHC class I DLA-88 gene DOID:13241 Behcet's disease ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphism:cds:HLA-B*51 (human) PMID:16101830|REF_RGD_ID:7364873 12313334 DLA88 MHC class I DLA-88 gene DOID:13241 Behcet's disease ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphism:cds:HLA-B*51 (human, Turkish) PMID:11426025|REF_RGD_ID:7364939 12313334 DLA88 MHC class I DLA-88 gene DOID:13241 Behcet's disease disease_progression ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphism:cds:HLA-B*15 (human) PMID:12622781|REF_RGD_ID:7364918 12313334 DLA88 MHC class I DLA-88 gene DOID:1407 anterior uveitis ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphism:cds:HLA-B27 (human, Thai) PMID:16899524|REF_RGD_ID:7364913 12313334 DLA88 MHC class I DLA-88 gene DOID:2703 synovitis ISO RGD:1352836 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:12648975 12313334 DLA88 MHC class I DLA-88 gene DOID:2703 synovitis susceptibility ISO RGD:1352836 D RGD:9068941 20211008 RGD associated with Hemophilia;DNA:polymorphism:cds:HLA-B*2708(human) PMID:12889998|REF_RGD_ID:10755578 12313334 DLA88 MHC class I DLA-88 gene DOID:2723 dermatitis ISO RGD:1352836 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:18007983|PMID:3084782 12313334 DLA88 MHC class I DLA-88 gene DOID:2723 dermatitis ISO RGD:1352836 D RGD:9068941 20211008 RGD human gene in rat model; DNA:polymorphisms:cds:HLA-B*2705 (human) PMID:7573371|REF_RGD_ID:7387278 12313334 DLA88 MHC class I DLA-88 gene DOID:2841 asthma susceptibility ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphism: PMID:28380482|REF_RGD_ID:13506910 12313334 DLA88 MHC class I DLA-88 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphism:cds:HLA-B*0703 (human) PMID:15243926|REF_RGD_ID:32716381 12313334 DLA88 MHC class I DLA-88 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphism:cds:HLA-B*4601 (human) PMID:12969506|REF_RGD_ID:32716382 12313334 DLA88 MHC class I DLA-88 gene DOID:3070 high grade glioma ISO RGD:1352836 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:14511464 12313334 DLA88 MHC class I DLA-88 gene DOID:3611 acute retinal necrosis syndrome ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphism:cds:HLA-Bw62 (human) PMID:2801857|REF_RGD_ID:7365119 12313334 DLA88 MHC class I DLA-88 gene DOID:3875 thrombophlebitis ISO RGD:1352836 D RGD:9068941 20211008 RGD associated with Behcet Syndrome; DNA:polymorphisms:cds:HLA-B35, HLA-B51 (human, Turkish) PMID:12372094|REF_RGD_ID:7364924 12313334 DLA88 MHC class I DLA-88 gene DOID:399 tuberculosis susceptibility ISO RGD:1352836 D RGD:9068941 20211008 RGD associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-B41 PMID:19030725|REF_RGD_ID:36049809 12313334 DLA88 MHC class I DLA-88 gene DOID:4362 cervical cancer susceptibility ISO RGD:1352836 D RGD:9068941 20211008 RGD associated with Papillomavirus Infections;DNA:polymorphism: :HLA-B7 PMID:12543794|REF_RGD_ID:2314696 12313334 DLA88 MHC class I DLA-88 gene DOID:437 myasthenia gravis ISO RGD:1352836 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:6402089|PMID:6605118 12313334 DLA88 MHC class I DLA-88 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1352836 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17496894 12313334 DLA88 MHC class I DLA-88 gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphism:cds:HLA-DRB1*08, HLA-B*35, HLA-C*04 (human) PMID:28244954|REF_RGD_ID:40903000 12313334 DLA88 MHC class I DLA-88 gene DOID:576 proteinuria ISO RGD:1352836 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:3459889|PMID:3487119|PMID:6376799|PMID:6770269 12313334 DLA88 MHC class I DLA-88 gene DOID:6039 uveal melanoma severity ISO RGD:1352836 D RGD:9068941 20211008 RGD protein:increased expression:tumor of uvea (human) PMID:9286277|REF_RGD_ID:7364941 12313334 DLA88 MHC class I DLA-88 gene DOID:6196 reactive arthritis ISO RGD:1352836 D RGD:9068941 20211008 RGD associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:HLA-B*27, HLA-B*35, HLA-B*44 (human) PMID:10648455|REF_RGD_ID:7364930 12313334 DLA88 MHC class I DLA-88 gene DOID:7147 ankylosing spondylitis ISO RGD:1352836 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21743469|PMID:22138694|PMID:8053961 12313334 DLA88 MHC class I DLA-88 gene DOID:7147 ankylosing spondylitis no_association ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphism:cds:HLA-B2705 (human) PMID:21927904|REF_RGD_ID:10755579 12313334 DLA88 MHC class I DLA-88 gene DOID:7147 ankylosing spondylitis susceptibility ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian) PMID:8733445|REF_RGD_ID:7364914 12313334 DLA88 MHC class I DLA-88 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1352836 D RGD:9068941 20211008 RGD associated with Diabetes Mellitus, Type 1; DNA:polymorphisms:cds:HLA-B*49 (human) PMID:22981956|REF_RGD_ID:7365095 12313334 DLA88 MHC class I DLA-88 gene DOID:9000380 Spondylarthritis susceptibility ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphism:cds:HLA-B*2714, B*2705 (human) PMID:12889998|REF_RGD_ID:10755578 12313334 DLA88 MHC class I DLA-88 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1352836 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:3459889 12313334 DLA88 MHC class I DLA-88 gene DOID:9001044 Choroidal Neovascularization susceptibility ISO RGD:1352836 D RGD:9068941 20211008 RGD associated with Macular Degeneration; DNA:polymorphisms:cds:HLA-B27 (human) PMID:19728932|REF_RGD_ID:7365097 12313334 DLA88 MHC class I DLA-88 gene DOID:9001472 Nasal Polyps susceptibility ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphisms:cds:HLA-B*07, HLA-B*57 (human, Turkish) PMID:18922348|REF_RGD_ID:7364876 12313334 DLA88 MHC class I DLA-88 gene DOID:9001537 Presumed Ocular Histoplasmosis Syndrome ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphism:cds:HLA-B7 (human) PMID:14522093|REF_RGD_ID:7364917 12313334 DLA88 MHC class I DLA-88 gene DOID:9001606 Acute Anterior Uveitis ISO RGD:1352836 D RGD:9068941 20211008 RGD associated with Inflammatory Bowel Diseases;DNA:polymorphisms:cds:HLA-B*27, HLA-B*58 (human) PMID:12198697|REF_RGD_ID:7364926 12313334 DLA88 MHC class I DLA-88 gene DOID:9004283 Transplant Rejection treatment ISO RGD:1352836 D RGD:9068941 20211008 RGD human peptide in rat model; HLA-B7 PMID:9233694|REF_RGD_ID:7387273 12313334 DLA88 MHC class I DLA-88 gene DOID:9004932 Eales Disease ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphisms, haplotypes:cds:HLA-B12, HLA-B44 (human) PMID:9756436|REF_RGD_ID:7365108 12313334 DLA88 MHC class I DLA-88 gene DOID:9005236 Drug Eruptions ISO RGD:1352836 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19712599|PMID:29370880 12313334 DLA88 MHC class I DLA-88 gene DOID:9005578 Hearing Loss, Unilateral Sensorineural ISO RGD:1352836 D RGD:9068941 20211008 RGD Unilateral Childhood Sensorineural Hearing Loss; DNA:polymorphism:cds:HLA-Bw54 (human) PMID:2909230|REF_RGD_ID:7365120 12313334 DLA88 MHC class I DLA-88 gene DOID:9005647 Experimental Autoimmune Uveitis treatment ISO RGD:1352836 D RGD:9068941 20211008 RGD human HLA-B27 peptide in rat model PMID:15681796|REF_RGD_ID:7364916 12313334 DLA88 MHC class I DLA-88 gene DOID:9005647 Experimental Autoimmune Uveitis treatment ISO RGD:1352836 D RGD:9068941 20211008 RGD human peptide in rat model; HLA-B27 PMID:9232451|REF_RGD_ID:7364942 12313334 DLA88 MHC class I DLA-88 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1352836 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29370880|PMID:3084782|PMID:3133153|PMID:3157529|PMID:3437418|PMID:6770269 12313334 DLA88 MHC class I DLA-88 gene DOID:9006927 Thyrotoxic Periodic Paralysis ISO RGD:1352836 D RGD:9068941 20211008 RGD protein:increased expression:peripheral blood cell (human) PMID:1752149|REF_RGD_ID:8655904 12313334 DLA88 MHC class I DLA-88 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Drug-induced liver injury due to flucloxacillin PMID:11888582|PMID:11943262|PMID:12462283|PMID:15024131|PMID:15247624|PMID:15247625|PMID:18256392|PMID:19483685 12313334 DLA88 MHC class I DLA-88 gene DOID:9007425 Diffuse Panbronchiolitis susceptibility ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphism:cds:HLA-B*5401 (human) PMID:9731015|REF_RGD_ID:1331522 12313334 DLA88 MHC class I DLA-88 gene DOID:9007647 Trichiasis ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphisms:cds HLA-B*07, HLA-B*08 (human, Tanzanian) PMID:18824733|REF_RGD_ID:7364877 12313334 DLA88 MHC class I DLA-88 gene DOID:9415 allergic asthma susceptibility ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphism: PMID:28380482|REF_RGD_ID:13506910 12313334 DLA88 MHC class I DLA-88 gene DOID:9849 Meniere's disease ISO RGD:1352836 D RGD:9068941 20211008 RGD DNA:polymorphism:cds:HLA-B44 (human, South Korean) PMID:12542204|REF_RGD_ID:7364921 12313334 DLA88 MHC class I DLA-88 gene DOID:987 alopecia ISO RGD:1352836 D RGD:9068941 20211008 RGD human gene in rat model; DNA:polymorphisms:cds:HLA-B*2705 (human) PMID:7573371|REF_RGD_ID:7387278 12313334 DLA88 MHC class I DLA-88 gene DOID:988 mitral valve prolapse ISO RGD:1352836 D RGD:9068941 20211008 RGD associated with Graves Disease; DNA:polymorphism:cds:HLA-B15 (human) PMID:8894996|REF_RGD_ID:7365110 12313350 PGAM2 phosphoglycerate mutase 2 gene DOID:0080108 myoglobinuria ISO RGD:68971 D RGD:9068941 20200609 RGD PMID:8447317|REF_RGD_ID:1599129 12313350 PGAM2 phosphoglycerate mutase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:68971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12313350 PGAM2 phosphoglycerate mutase 2 gene DOID:630 genetic disease ISO RGD:68971 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12313350 PGAM2 phosphoglycerate mutase 2 gene DOID:9000884 Rhabdomyolysis ISO RGD:68971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:28779239 12313350 PGAM2 phosphoglycerate mutase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12313350 PGAM2 phosphoglycerate mutase 2 gene DOID:9005787 Dimauro Disease ISO RGD:68971 D RGD:7240710 20180130 OMIM 12313350 PGAM2 phosphoglycerate mutase 2 gene DOID:9005787 Dimauro Disease ISO RGD:68971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dimauro disease | ClinVar Annotator: match by term: GSD X | ClinVar Annotator: match by term: Myopathy due to phosphoglycerate mutase deficiency PMID:10545043|PMID:16881065|PMID:17576681|PMID:18852891|PMID:19273759|PMID:19322572|PMID:19783439|PMID:21444020|PMID:22995991|PMID:23169535|PMID:23335027|PMID:25741868|PMID:26502762|PMID:27612597|PMID:28492532|PMID:28944235|PMID:2987758|PMID:30310767|PMID:33782433|PMID:6308514|PMID:8447317|PMID:9536098 12313351 ARL14EP ADP ribosylation factor like GTPase 14 effector protein gene DOID:1059 intellectual disability ISO RGD:1602076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12313351 ARL14EP ADP ribosylation factor like GTPase 14 effector protein gene DOID:630 genetic disease ISO RGD:1602076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12313351 ARL14EP ADP ribosylation factor like GTPase 14 effector protein gene DOID:9008086 Developmental Disabilities ISO RGD:1602076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:25741868 12313361 ECM2 extracellular matrix protein 2 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1318155 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 12313361 ECM2 extracellular matrix protein 2 gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1318155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 12313361 ECM2 extracellular matrix protein 2 gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1318155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 12313361 ECM2 extracellular matrix protein 2 gene DOID:630 genetic disease ISO RGD:1318155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12313361 ECM2 extracellular matrix protein 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:1318155 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12313385 DTX3L deltex E3 ubiquitin ligase 3L gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1344833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12313385 DTX3L deltex E3 ubiquitin ligase 3L gene DOID:630 genetic disease ISO RGD:1344833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12313385 DTX3L deltex E3 ubiquitin ligase 3L gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1344833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12313385 DTX3L deltex E3 ubiquitin ligase 3L gene DOID:9270 alkaptonuria ISO RGD:1344833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12313401 SNCAIP synuclein alpha interacting protein gene DOID:0060892 late onset Parkinson's disease ISO RGD:1319545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:12761037|PMID:18366718|PMID:28492532 12313401 SNCAIP synuclein alpha interacting protein gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319545 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12313401 SNCAIP synuclein alpha interacting protein gene DOID:14330 Parkinson's disease ISO RGD:1319545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant/Recessive PMID:12761037|PMID:18366718|PMID:21344240|PMID:24033266|PMID:28492532 12313401 SNCAIP synuclein alpha interacting protein gene DOID:630 genetic disease ISO RGD:1319545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12313401 SNCAIP synuclein alpha interacting protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12313401 SNCAIP synuclein alpha interacting protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12313401 SNCAIP synuclein alpha interacting protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319545 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12313401 SNCAIP synuclein alpha interacting protein gene DOID:9007386 Congenital Lower Urinary Tract Obstruction ISO RGD:1319545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital PMID:31690835 12313463 LMNB2 lamin B2 gene DOID:0080299 partial lipodystrophy ISO RGD:1345535 D RGD:7240710 20230517 OMIM 12313463 LMNB2 lamin B2 gene DOID:0080299 partial lipodystrophy ISO RGD:1345535 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: APLD, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Acquired partial lipodystrophy PMID:16826530|PMID:22768673|PMID:22995991|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532 12313463 LMNB2 lamin B2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1345535 D RGD:7240710 20230517 OMIM 12313463 LMNB2 lamin B2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1345535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:16826530|PMID:17576681|PMID:22768673|PMID:22995991|PMID:25741868|PMID:25954030|PMID:26467025|PMID:27535533|PMID:28166811|PMID:28492532|PMID:32041611|PMID:9536098 12313463 LMNB2 lamin B2 gene DOID:630 genetic disease ISO RGD:1345535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 12313463 LMNB2 lamin B2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1345535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12313463 LMNB2 lamin B2 gene DOID:9002951 Primary Autosomal Recessive Microcephaly 27 ISO RGD:1345535 D RGD:7240710 20230517 OMIM 12313463 LMNB2 lamin B2 gene DOID:9002951 Primary Autosomal Recessive Microcephaly 27 ISO RGD:1345535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 27, primary, autosomal dominant PMID:33033404 12313463 LMNB2 lamin B2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12313463 LMNB2 lamin B2 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1345535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized myoclonic seizures PMID:28492532 12313477 SESN3 sestrin 3 gene DOID:1059 intellectual disability ISO RGD:1319828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12313477 SESN3 sestrin 3 gene DOID:12704 ataxia telangiectasia ISO RGD:1319828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12313477 SESN3 sestrin 3 gene DOID:630 genetic disease ISO RGD:1319828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12313477 SESN3 sestrin 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 12313491 ASB8 ankyrin repeat and SOCS box containing 8 gene DOID:630 genetic disease ISO RGD:1319481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12313524 ARNTL2 aryl hydrocarbon receptor nuclear translocator like 2 gene DOID:0080600 COVID-19 ISO RGD:737603 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12313524 ARNTL2 aryl hydrocarbon receptor nuclear translocator like 2 gene DOID:10763 hypertension ISO RGD:737603 D RGD:9068941 20200609 RGD DNA:SNPs: :rs6486121, rs3789327, rs969485(human) PMID:17728404|REF_RGD_ID:2314371 12313524 ARNTL2 aryl hydrocarbon receptor nuclear translocator like 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 12313524 ARNTL2 aryl hydrocarbon receptor nuclear translocator like 2 gene DOID:630 genetic disease ISO RGD:737603 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12313524 ARNTL2 aryl hydrocarbon receptor nuclear translocator like 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737603 D RGD:9068941 20200609 RGD DNA:SNPs: :rs7950226, rs11022775(human) PMID:17728404|REF_RGD_ID:2314371 12313524 ARNTL2 aryl hydrocarbon receptor nuclear translocator like 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1551457 D RGD:9068941 20200609 RGD DNA:SNPs:exon:multiple PMID:16893914|REF_RGD_ID:2314359 12313547 PRLHR prolactin releasing hormone receptor gene DOID:10763 hypertension ISO RGD:732732 D RGD:9068941 20200609 RGD DNA:SNP, missense mutation:promoter, cds:-62G>A, 914C>T (p.P305L) (human) PMID:14691196|REF_RGD_ID:1641832 12313547 PRLHR prolactin releasing hormone receptor gene DOID:630 genetic disease ISO RGD:732732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12313547 PRLHR prolactin releasing hormone receptor gene DOID:9970 obesity ISO RGD:71037 D RGD:9068941 20200609 RGD PMID:15854142|REF_RGD_ID:1641829 12313553 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:0060224 atrial fibrillation ISO RGD:1314942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12313553 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12313553 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:1059 intellectual disability ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12313553 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12313553 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:2717 Bloom syndrome ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12313553 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12313553 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:630 genetic disease ISO RGD:1314942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26138117|PMID:26153217|PMID:26801221|PMID:27108999|PMID:28492532|PMID:33526774 12313553 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:9000271 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation ISO RGD:1314942 D RGD:7240710 20190315 OMIM 12313553 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:9000271 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation PMID:25741868|PMID:26138117|PMID:26153217|PMID:27108999|PMID:28492532|PMID:32921582|PMID:33526774 12313553 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12313553 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:9004447 Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability PMID:26153217|PMID:27108999 12313553 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:9256 colorectal cancer ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12313636 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12313636 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:0070034 autosomal dominant intellectual developmental disorder 4 ISO RGD:1322814 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 4 PMID:19012874|PMID:25741868 12313636 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12313636 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1322814 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868 12313636 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:1059 intellectual disability ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12313636 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:5419 schizophrenia ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12313636 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:630 genetic disease ISO RGD:1322814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213 12313636 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12313636 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:9007661 Dwarfism ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12313636 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12313636 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:9008582 Developmental Disease ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12313664 PTPN21 protein tyrosine phosphatase non-receptor type 21 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:734205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 12313664 PTPN21 protein tyrosine phosphatase non-receptor type 21 gene DOID:10283 prostate cancer ISO RGD:734205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12313664 PTPN21 protein tyrosine phosphatase non-receptor type 21 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:734205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12313664 PTPN21 protein tyrosine phosphatase non-receptor type 21 gene DOID:2661 myoepithelioma ISO RGD:734205 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12313664 PTPN21 protein tyrosine phosphatase non-receptor type 21 gene DOID:630 genetic disease ISO RGD:734205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12313686 PPP2R2D protein phosphatase 2 regulatory subunit Bdelta gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1351294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12313686 PPP2R2D protein phosphatase 2 regulatory subunit Bdelta gene DOID:630 genetic disease ISO RGD:1351294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12313699 ARSD arylsulfatase D gene DOID:0060292 X-linked chondrodysplasia punctata 1 ISO RGD:1353523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondrodysplasia punctata, brachytelephalangic, autosomal | ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1 PMID:12567415|PMID:23470839|PMID:28492532|PMID:9497243 12313699 ARSD arylsulfatase D gene DOID:12849 autistic disorder ISO RGD:1353523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12313699 ARSD arylsulfatase D gene DOID:630 genetic disease ISO RGD:1353523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12313699 ARSD arylsulfatase D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12313762 PPFIA4 PTPRF interacting protein alpha 4 gene DOID:0060224 atrial fibrillation ISO RGD:737078 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28416822|PMID:29892015|PMID:30061737 12313762 PPFIA4 PTPRF interacting protein alpha 4 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:737078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12313762 PPFIA4 PTPRF interacting protein alpha 4 gene DOID:1540 parathyroid carcinoma ISO RGD:737078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12313762 PPFIA4 PTPRF interacting protein alpha 4 gene DOID:630 genetic disease ISO RGD:737078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12313762 PPFIA4 PTPRF interacting protein alpha 4 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:737078 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12313762 PPFIA4 PTPRF interacting protein alpha 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12313821 AADACL4 arylacetamide deacetylase like 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603850 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12313821 AADACL4 arylacetamide deacetylase like 4 gene DOID:630 genetic disease ISO RGD:1603850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12313840 LRFN4 leucine rich repeat and fibronectin type III domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1350359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12313840 LRFN4 leucine rich repeat and fibronectin type III domain containing 4 gene DOID:3651 pyruvate carboxylase deficiency disease ISO RGD:1350359 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:12112657|PMID:19306334|PMID:25741868|PMID:28492532 12313840 LRFN4 leucine rich repeat and fibronectin type III domain containing 4 gene DOID:630 genetic disease ISO RGD:1350359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12313840 LRFN4 leucine rich repeat and fibronectin type III domain containing 4 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1350359 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12313840 LRFN4 leucine rich repeat and fibronectin type III domain containing 4 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1350359 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12313846 GSKIP GSK3B interacting protein gene DOID:0070004 myeloid neoplasm ISO RGD:1318256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26280900 12313846 GSKIP GSK3B interacting protein gene DOID:2224 essential thrombocythemia ISO RGD:1318256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 12313846 GSKIP GSK3B interacting protein gene DOID:4971 myelofibrosis ISO RGD:1318256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis 12313846 GSKIP GSK3B interacting protein gene DOID:630 genetic disease ISO RGD:1318256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12313846 GSKIP GSK3B interacting protein gene DOID:8692 myeloid leukemia ISO RGD:1318256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26280900 12313846 GSKIP GSK3B interacting protein gene DOID:9119 acute myeloid leukemia ISO RGD:1318256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 12313864 SERPINF1 serpin family F member 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1342519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12313864 SERPINF1 serpin family F member 1 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:26121037|REF_RGD_ID:27226705 12313864 SERPINF1 serpin family F member 1 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:28365916|REF_RGD_ID:27226700 12313864 SERPINF1 serpin family F member 1 gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:1342519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:25741868|PMID:28492532|PMID:32770541 12313864 SERPINF1 serpin family F member 1 gene DOID:0110350 osteogenesis imperfecta type 6 ISO RGD:1342519 D RGD:7240710 20180130 OMIM 12313864 SERPINF1 serpin family F member 1 gene DOID:0110350 osteogenesis imperfecta type 6 ISO RGD:1342519 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 6 PMID:17576681|PMID:21353196|PMID:21826736|PMID:23054245|PMID:25565926|PMID:25741868|PMID:27056980|PMID:27796462|PMID:28116328|PMID:28492532|PMID:29150909|PMID:30968248|PMID:9536098 12313864 SERPINF1 serpin family F member 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1342519 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:28492532 12313864 SERPINF1 serpin family F member 1 gene DOID:10584 retinitis pigmentosa treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in a rat model PMID:18837062|REF_RGD_ID:8554900 12313864 SERPINF1 serpin family F member 1 gene DOID:10652 Alzheimer's disease ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid, serum (human) PMID:28320113|REF_RGD_ID:27226702 12313864 SERPINF1 serpin family F member 1 gene DOID:10652 Alzheimer's disease ISO RGD:631369 D RGD:9068941 20200609 RGD PMID:17073149|REF_RGD_ID:2312353 12313864 SERPINF1 serpin family F member 1 gene DOID:1074 kidney failure ISO RGD:1342519 D RGD:9068941 20200723 RGD protein:increased expression:plasma (human) PMID:16828495|REF_RGD_ID:36174008 12313864 SERPINF1 serpin family F member 1 gene DOID:10762 portal hypertension ISO RGD:631369 D RGD:9068941 20200609 RGD protein:increased expression:gastric wall (rat) PMID:22024088|REF_RGD_ID:8655539 12313864 SERPINF1 serpin family F member 1 gene DOID:11168 anogenital venereal wart disease_progression ISO RGD:1342519 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:skin of body (human) PMID:23569025|REF_RGD_ID:27226706 12313864 SERPINF1 serpin family F member 1 gene DOID:11382 corneal neovascularization treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in a rat model PMID:19596319|REF_RGD_ID:8554890 12313864 SERPINF1 serpin family F member 1 gene DOID:11446 sciatic neuropathy treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:10441236|REF_RGD_ID:8554886 12313864 SERPINF1 serpin family F member 1 gene DOID:11476 osteoporosis ISO RGD:1342519 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:25741868|PMID:28492532|PMID:29150909|PMID:30968248 12313864 SERPINF1 serpin family F member 1 gene DOID:11713 diabetic angiopathy ISO RGD:1342519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 12313864 SERPINF1 serpin family F member 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:1342519 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28116328|PMID:28492532|PMID:29150909|PMID:29807018|PMID:30968248|PMID:32413570|PMID:33093841 12313864 SERPINF1 serpin family F member 1 gene DOID:12986 leukostasis treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Diabetic Retinopathy; human protein in a rat model PMID:16797605|REF_RGD_ID:8554884 12313864 SERPINF1 serpin family F member 1 gene DOID:13025 retinopathy of prematurity ISO RGD:631369 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina (rat) PMID:21738387|REF_RGD_ID:8655555 12313864 SERPINF1 serpin family F member 1 gene DOID:13141 uveitis ISO RGD:1342519 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19553628 12313864 SERPINF1 serpin family F member 1 gene DOID:13141 uveitis ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor (human) PMID:16973658|REF_RGD_ID:8554887 12313864 SERPINF1 serpin family F member 1 gene DOID:13141 uveitis treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Keratitis; human protein in a rat model PMID:19553628|REF_RGD_ID:8554902 12313864 SERPINF1 serpin family F member 1 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:vitreous fluid (human) PMID:15059706|REF_RGD_ID:1580135 12313864 SERPINF1 serpin family F member 1 gene DOID:13207 proliferative diabetic retinopathy treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD PMID:11723044|REF_RGD_ID:8554895 12313864 SERPINF1 serpin family F member 1 gene DOID:13514 venous tributary occlusion of retina ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:decreased expression:vitreous humor (human) PMID:20714746|REF_RGD_ID:8554903 12313864 SERPINF1 serpin family F member 1 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:27748324|REF_RGD_ID:27226704 12313864 SERPINF1 serpin family F member 1 gene DOID:14115 toxic shock syndrome severity ISO RGD:1342519 D RGD:9068941 20200723 RGD protein:decreased expression:plasma (human) PMID:6158114|REF_RGD_ID:36174004 12313864 SERPINF1 serpin family F member 1 gene DOID:14330 Parkinson's disease severity ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:serum, extracellular exosome (human) PMID:31593110|REF_RGD_ID:27226691 12313864 SERPINF1 serpin family F member 1 gene DOID:1727 retinal vein occlusion ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:decreased expression:vitreous humor (human) PMID:21275514|REF_RGD_ID:8554901 12313864 SERPINF1 serpin family F member 1 gene DOID:2154 nephroblastoma ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16863836|REF_RGD_ID:2312354 12313864 SERPINF1 serpin family F member 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in a rat model PMID:18624913|REF_RGD_ID:8613878 12313864 SERPINF1 serpin family F member 1 gene DOID:2450 central retinal vein occlusion ISO RGD:631369 D RGD:9068941 20200609 RGD protein:increased expression:neuroretina (rat) PMID:21487926|REF_RGD_ID:5490120 12313864 SERPINF1 serpin family F member 1 gene DOID:289 endometriosis ISO RGD:631369 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium (rat) PMID:22975116|REF_RGD_ID:8638001 12313864 SERPINF1 serpin family F member 1 gene DOID:289 endometriosis treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a rat model PMID:23466670|REF_RGD_ID:8590225 12313864 SERPINF1 serpin family F member 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:12067231|REF_RGD_ID:8554892 12313864 SERPINF1 serpin family F member 1 gene DOID:3347 osteosarcoma treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in rat model PMID:17479108|REF_RGD_ID:8633656 12313864 SERPINF1 serpin family F member 1 gene DOID:3347 osteosarcoma treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:17458711|REF_RGD_ID:8655561 12313864 SERPINF1 serpin family F member 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:631369 D RGD:9068941 20200609 RGD PMID:22714093|REF_RGD_ID:8655545 12313864 SERPINF1 serpin family F member 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:serum, pleural effusion (human) PMID:20230924|REF_RGD_ID:27226710 12313864 SERPINF1 serpin family F member 1 gene DOID:4448 macular degeneration ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:decreased expression:optic choroid (human) PMID:16019000|REF_RGD_ID:8554867 12313864 SERPINF1 serpin family F member 1 gene DOID:4448 macular degeneration ISO RGD:631369 D RGD:9068941 20200609 RGD mRNA:altered expression:retina (rat) PMID:21191149|REF_RGD_ID:8655542 12313864 SERPINF1 serpin family F member 1 gene DOID:4449 macular retinal edema ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Branch Retinal Vein Occlusion;protein:decreased expression:vitreous humor (human) PMID:20714746|REF_RGD_ID:8554903 12313864 SERPINF1 serpin family F member 1 gene DOID:4449 macular retinal edema treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; human protein in a rat model PMID:21139695|REF_RGD_ID:8655546 12313864 SERPINF1 serpin family F member 1 gene DOID:4724 brain edema treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:17692294|REF_RGD_ID:8554891 12313864 SERPINF1 serpin family F member 1 gene DOID:5052 melioidosis ISO RGD:1342519 D RGD:9068941 20200723 RGD protein:increased expression:plasma (human) PMID:23992406|PMID:25370187|REF_RGD_ID:36174010|REF_RGD_ID:36174011 12313864 SERPINF1 serpin family F member 1 gene DOID:5052 melioidosis severity ISO RGD:1332124 D RGD:9068941 20200723 RGD PMID:23992406|REF_RGD_ID:36174010 12313864 SERPINF1 serpin family F member 1 gene DOID:5425 ovarian hyperstimulation syndrome treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:23295464|REF_RGD_ID:8635395 12313864 SERPINF1 serpin family F member 1 gene DOID:6039 uveal melanoma severity ISO RGD:1332124 D RGD:9068941 20200609 RGD PMID:23793989|REF_RGD_ID:8554893 12313864 SERPINF1 serpin family F member 1 gene DOID:630 genetic disease ISO RGD:1342519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12313864 SERPINF1 serpin family F member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Human Viral Hepatitis, liver cirrhosis;protein:increased expression:serum (human) PMID:27748324|REF_RGD_ID:27226704 12313864 SERPINF1 serpin family F member 1 gene DOID:768 retinoblastoma treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein and tumor xenograft in a mouse model PMID:19832843|REF_RGD_ID:8554870 12313864 SERPINF1 serpin family F member 1 gene DOID:8463 corneal ulcer ISO RGD:1342519 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19553628 12313864 SERPINF1 serpin family F member 1 gene DOID:8466 retinal degeneration treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:10600408|REF_RGD_ID:8554889 12313864 SERPINF1 serpin family F member 1 gene DOID:8544 chronic fatigue syndrome ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:16321154|REF_RGD_ID:28867246 12313864 SERPINF1 serpin family F member 1 gene DOID:8947 diabetic retinopathy ISO RGD:1332124 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:vitreous humor PMID:18025835|REF_RGD_ID:2312344 12313864 SERPINF1 serpin family F member 1 gene DOID:8947 diabetic retinopathy ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum PMID:18455830|REF_RGD_ID:2312341 12313864 SERPINF1 serpin family F member 1 gene DOID:8947 diabetic retinopathy ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNPs:promoter:g.-5740T>C, g.-5308G>A (rs12150053, rs12948385) (human) PMID:17658465|REF_RGD_ID:2312346 12313864 SERPINF1 serpin family F member 1 gene DOID:8947 diabetic retinopathy ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:alternative form:vitreous humor PMID:19365032|REF_RGD_ID:2312337 12313864 SERPINF1 serpin family F member 1 gene DOID:8947 diabetic retinopathy ISO RGD:631369 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:retina PMID:16054135|REF_RGD_ID:2312348 12313864 SERPINF1 serpin family F member 1 gene DOID:8947 diabetic retinopathy severity ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:15059706|REF_RGD_ID:1580135 12313864 SERPINF1 serpin family F member 1 gene DOID:9000058 Keloid ISO RGD:1342519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12313864 SERPINF1 serpin family F member 1 gene DOID:9000058 Keloid ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:skin of body (human) PMID:20128793|REF_RGD_ID:27226709 12313864 SERPINF1 serpin family F member 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:15313905|REF_RGD_ID:2312355 12313864 SERPINF1 serpin family F member 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:631369 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:15313905|REF_RGD_ID:2312355 12313864 SERPINF1 serpin family F member 1 gene DOID:9000998 Brain Injuries ISO RGD:631369 D RGD:9068941 20200609 RGD protein:altered expression:cerebellum (rat) PMID:17709187|REF_RGD_ID:8622925 12313864 SERPINF1 serpin family F member 1 gene DOID:9000998 Brain Injuries treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in a rat model PMID:20142768|REF_RGD_ID:8612994 12313864 SERPINF1 serpin family F member 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor (human) PMID:16490490|REF_RGD_ID:8554883 12313864 SERPINF1 serpin family F member 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:631369 D RGD:9068941 20200609 RGD PMID:15312607|REF_RGD_ID:2312356 12313864 SERPINF1 serpin family F member 1 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:11424092|PMID:12037010|PMID:19778186|REF_RGD_ID:27226711|REF_RGD_ID:28867245|REF_RGD_ID:8554866 12313864 SERPINF1 serpin family F member 1 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a rat model PMID:19850839|REF_RGD_ID:8655557 12313864 SERPINF1 serpin family F member 1 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:631369 D RGD:9068941 20200609 RGD mRNA:increased expression:pelvic ganglion (rat) PMID:22300381|REF_RGD_ID:7241556 12313864 SERPINF1 serpin family F member 1 gene DOID:9001542 Albuminuria treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; human gene in a rat model PMID:16731830|REF_RGD_ID:8554875 12313864 SERPINF1 serpin family F member 1 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:16822505|REF_RGD_ID:8554871 12313864 SERPINF1 serpin family F member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma (human) PMID:18523656|REF_RGD_ID:8554896 12313864 SERPINF1 serpin family F member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:631369 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:renal cortex, renal medulla (rat) PMID:15616035|REF_RGD_ID:1359799 12313864 SERPINF1 serpin family F member 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:23884140|REF_RGD_ID:8554865 12313864 SERPINF1 serpin family F member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1342519 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21671747 12313864 SERPINF1 serpin family F member 1 gene DOID:9002304 Prostatic Neoplasms treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in a rat model PMID:20360944|REF_RGD_ID:8593319 12313864 SERPINF1 serpin family F member 1 gene DOID:9002669 Hypoxia ISO RGD:631369 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:retina (rat) PMID:18331686|REF_RGD_ID:8655558 12313864 SERPINF1 serpin family F member 1 gene DOID:9002909 Oxygen-Induced Retinopathy susceptibility ISO RGD:631369 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:retina (rat) PMID:11916948|REF_RGD_ID:8655544 12313864 SERPINF1 serpin family F member 1 gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:21281801|REF_RGD_ID:8554878 12313864 SERPINF1 serpin family F member 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1342519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12313864 SERPINF1 serpin family F member 1 gene DOID:9003646 Arterial Thrombosis treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a rat model PMID:17850801|REF_RGD_ID:8655540 12313864 SERPINF1 serpin family F member 1 gene DOID:9004042 Olfaction Disorders ISO RGD:631369 D RGD:9068941 20200609 RGD mRNA:decreased expression:olfactory bulb (rat) PMID:23825416|REF_RGD_ID:8655547 12313864 SERPINF1 serpin family F member 1 gene DOID:9004332 Osteoarthritis, Experimental severity ISO RGD:1332124 D RGD:9068941 20200609 RGD PMID:28122611|REF_RGD_ID:27226703 12313864 SERPINF1 serpin family F member 1 gene DOID:9005372 Inflammation ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathy PMID:18322021|REF_RGD_ID:2312342 12313864 SERPINF1 serpin family F member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:631369 D RGD:9068941 20200609 RGD protein:decreased expression:platelet PMID:19237211|REF_RGD_ID:2312338 12313864 SERPINF1 serpin family F member 1 gene DOID:9005930 Endotoxemia ISO RGD:1342519 D RGD:9068941 20200723 RGD protein:increased expression:plasma (human) PMID:12386642|REF_RGD_ID:36174005 12313864 SERPINF1 serpin family F member 1 gene DOID:9005966 Staphylococcal Skin Infections severity ISO RGD:1332124 D RGD:9068941 20200723 RGD PMID:25515118|REF_RGD_ID:36174009 12313864 SERPINF1 serpin family F member 1 gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in a rat model PMID:17525281|REF_RGD_ID:8618841 12313864 SERPINF1 serpin family F member 1 gene DOID:9006550 hepatosplenic schistosomiasis ISO RGD:1342519 D RGD:9068941 20200613 RGD PMID:9038736|REF_RGD_ID:30296660 12313864 SERPINF1 serpin family F member 1 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:631369 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:18996124|REF_RGD_ID:2312349 12313864 SERPINF1 serpin family F member 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1342519 D RGD:9068941 20200611 RGD associated with chronic kidney disease;protein:increased expression:blood (human) PMID:11045282|REF_RGD_ID:30296653 12313864 SERPINF1 serpin family F member 1 gene DOID:9007367 Septic Peritonitis ISO RGD:1342519 D RGD:9068941 20200613 RGD protein:increased expression:peritoneal fluid (human) PMID:8869327|REF_RGD_ID:30296661 12313864 SERPINF1 serpin family F member 1 gene DOID:9007692 Insulin Resistance ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Hypertension PMID:19073347|REF_RGD_ID:2312339 12313864 SERPINF1 serpin family F member 1 gene DOID:9007692 Insulin Resistance ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a rat model PMID:22714715|REF_RGD_ID:8655563 12313864 SERPINF1 serpin family F member 1 gene DOID:9007692 Insulin Resistance treatment ISO RGD:631369 D RGD:9068941 20200609 RGD PMID:24288442|REF_RGD_ID:8642993 12313864 SERPINF1 serpin family F member 1 gene DOID:9007748 Retinal Neovascularization treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Oxygen-Induced Retinopathy; human protein in a mouse model PMID:11867604|REF_RGD_ID:8554881 12313864 SERPINF1 serpin family F member 1 gene DOID:9007835 Sickle Cell Retinopathy ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:retinal blood vessels (human) PMID:12957143|REF_RGD_ID:8554869 12313864 SERPINF1 serpin family F member 1 gene DOID:9008609 Endotoxin-Induced Uveitis ISO RGD:631369 D RGD:9068941 20200609 RGD protein:decreased expression:retina, plasma (rat) PMID:16368716|REF_RGD_ID:1580133 12313864 SERPINF1 serpin family F member 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1342519 D RGD:9068941 20220909 RGD PMID:23393224|REF_RGD_ID:153350137 12313864 SERPINF1 serpin family F member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18715664|REF_RGD_ID:2312340 12313864 SERPINF1 serpin family F member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:631369 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:17653050|REF_RGD_ID:8554888 12313864 SERPINF1 serpin family F member 1 gene DOID:9352 type 2 diabetes mellitus severity ISO RGD:631369 D RGD:9068941 20200609 RGD PMID:24530621|REF_RGD_ID:8655541 12313864 SERPINF1 serpin family F member 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a rat model PMID:24530621|REF_RGD_ID:8655541 12313864 SERPINF1 serpin family F member 1 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:1342519 D RGD:9068941 20200723 RGD protein:increased expression:plasma (human) PMID:18939350|REF_RGD_ID:36174007 12313864 SERPINF1 serpin family F member 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17971181|REF_RGD_ID:2312345 12313864 SERPINF1 serpin family F member 1 gene DOID:9970 obesity ISO RGD:1342519 D RGD:9068941 20200609 RGD PMID:17491674|REF_RGD_ID:2312347 12313864 SERPINF1 serpin family F member 1 gene DOID:9970 obesity ISO RGD:631369 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:24424059|REF_RGD_ID:8633067 12313883 ZNF831 zinc finger protein 831 gene DOID:0080600 COVID-19 ISO RGD:1316121 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12313883 ZNF831 zinc finger protein 831 gene DOID:1909 melanoma ISO RGD:1316121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 12313883 ZNF831 zinc finger protein 831 gene DOID:630 genetic disease ISO RGD:1316121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12313913 MSH4 mutS homolog 4 gene DOID:0070164 spermatogenic failure 2 ISO RGD:1319392 D RGD:7240710 20220706 OMIM 12313913 MSH4 mutS homolog 4 gene DOID:0070164 spermatogenic failure 2 ISO RGD:1319392 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 2 PMID:25741868|PMID:33437391|PMID:33448284|PMID:34755185|PMID:35090489 12313913 MSH4 mutS homolog 4 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1319392 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:33448284|PMID:34755185 12313913 MSH4 mutS homolog 4 gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:1319392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:28492532 12313913 MSH4 mutS homolog 4 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1319392 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:35090489 12313913 MSH4 mutS homolog 4 gene DOID:14228 oligospermia ISO RGD:1319392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligospermia PMID:25741868|PMID:33448284 12313913 MSH4 mutS homolog 4 gene DOID:5426 primary ovarian insufficiency ISO RGD:1319392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:33448284 12313913 MSH4 mutS homolog 4 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 12313913 MSH4 mutS homolog 4 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319392 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:35090489 12313913 MSH4 mutS homolog 4 gene DOID:630 genetic disease ISO RGD:1319392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12313913 MSH4 mutS homolog 4 gene DOID:9002716 Primary Ovarian Insufficiency 20 ISO RGD:1319392 D RGD:7240710 20220720 OMIM 12313913 MSH4 mutS homolog 4 gene DOID:9002716 Primary Ovarian Insufficiency 20 ISO RGD:1319392 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 20 PMID:25741868|PMID:28541421|PMID:33448284|PMID:34755185 12313936 LOC100683370 thymosin beta-4 gene DOID:0050777 Joubert syndrome ISO RGD:736781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 12313936 LOC100683370 thymosin beta-4 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12313936 LOC100683370 thymosin beta-4 gene DOID:12849 autistic disorder ISO RGD:736781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12313936 LOC100683370 thymosin beta-4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17916567 12313936 LOC100683370 thymosin beta-4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12313947 ZMAT3 zinc finger matrin-type 3 gene DOID:0111546 Currarino syndrome ISO RGD:1602466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12313947 ZMAT3 zinc finger matrin-type 3 gene DOID:10283 prostate cancer ISO RGD:1602466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12313947 ZMAT3 zinc finger matrin-type 3 gene DOID:630 genetic disease ISO RGD:1602466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12313947 ZMAT3 zinc finger matrin-type 3 gene DOID:9002955 Nerve Degeneration ISO RGD:1602466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17234339 12313960 RIMOC1 RAB7A interacting MON1-CCZ1 complex subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12313970 DUOXA2 dual oxidase maturation factor 2 gene DOID:0050328 congenital hypothyroidism ISO RGD:1603235 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:25741868|PMID:28492532 12313970 DUOXA2 dual oxidase maturation factor 2 gene DOID:0050712 AGAT deficiency ISO RGD:1603235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 12313970 DUOXA2 dual oxidase maturation factor 2 gene DOID:0112184 thyroid dyshormonogenesis 5 ISO RGD:1603235 D RGD:7240710 20180130 OMIM 12313970 DUOXA2 dual oxidase maturation factor 2 gene DOID:0112184 thyroid dyshormonogenesis 5 ISO RGD:1603235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thyroid dyshormonogenesis 5 PMID:18042646|PMID:23292166|PMID:25675383|PMID:25741868|PMID:28492532|PMID:30110704|PMID:31044655|PMID:32252219|PMID:32860008 12313970 DUOXA2 dual oxidase maturation factor 2 gene DOID:2717 Bloom syndrome ISO RGD:1603235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12313970 DUOXA2 dual oxidase maturation factor 2 gene DOID:630 genetic disease ISO RGD:1603235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18042646|PMID:23292166|PMID:25675383|PMID:25741868|PMID:28492532|PMID:30110704|PMID:32252219 12313970 DUOXA2 dual oxidase maturation factor 2 gene DOID:9256 colorectal cancer ISO RGD:1603235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12313981 LOC102151519 zinc finger protein 300-like gene DOID:630 genetic disease ISO RGD:1352082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314000 OR8G6 olfactory receptor family 8 subfamily G member 6 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1346948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12314000 OR8G6 olfactory receptor family 8 subfamily G member 6 gene DOID:5419 schizophrenia ISO RGD:1346948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12314000 OR8G6 olfactory receptor family 8 subfamily G member 6 gene DOID:630 genetic disease ISO RGD:1346948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314000 OR8G6 olfactory receptor family 8 subfamily G member 6 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1346948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12314000 OR8G6 olfactory receptor family 8 subfamily G member 6 gene DOID:9007661 Dwarfism ISO RGD:1346948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12314064 FAM172A family with sequence similarity 172 member A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605018 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12314064 FAM172A family with sequence similarity 172 member A gene DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome ISO RGD:1605018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome PMID:24462372 12314064 FAM172A family with sequence similarity 172 member A gene DOID:630 genetic disease ISO RGD:1605018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314064 FAM172A family with sequence similarity 172 member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12314064 FAM172A family with sequence similarity 172 member A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605018 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12314146 GINM1 glycosylated integral membrane protein 1 gene DOID:630 genetic disease ISO RGD:1320268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314157 DHPS deoxyhypusine synthase gene DOID:0050990 episodic ataxia type 2 ISO RGD:1602903 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12314157 DHPS deoxyhypusine synthase gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1602903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12314157 DHPS deoxyhypusine synthase gene DOID:0111254 glutaric acidemia I ISO RGD:1602903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12314157 DHPS deoxyhypusine synthase gene DOID:3413 alpha-mannosidosis ISO RGD:1602903 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12314157 DHPS deoxyhypusine synthase gene DOID:630 genetic disease ISO RGD:1602903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12314157 DHPS deoxyhypusine synthase gene DOID:9000463 Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment ISO RGD:1602903 D RGD:7240710 20190807 OMIM 12314157 DHPS deoxyhypusine synthase gene DOID:9000463 Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment ISO RGD:1602903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment PMID:25741868|PMID:30661771 12314174 IFIT2 interferon induced protein with tetratricopeptide repeats 2 gene DOID:0080600 COVID-19 ISO RGD:1317209 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12314174 IFIT2 interferon induced protein with tetratricopeptide repeats 2 gene DOID:14497 Wolman disease ISO RGD:1317209 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:28492532 12314174 IFIT2 interferon induced protein with tetratricopeptide repeats 2 gene DOID:630 genetic disease ISO RGD:1317209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314174 IFIT2 interferon induced protein with tetratricopeptide repeats 2 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1317209 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 12314174 IFIT2 interferon induced protein with tetratricopeptide repeats 2 gene DOID:9001488 Human Influenza ISO RGD:1317209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12314180 PRLR prolactin receptor gene DOID:0050547 familial medullary thyroid carcinoma ISO RGD:11157 D RGD:9068941 20220825 MouseDO OMIM:155240 12314180 PRLR prolactin receptor gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:730871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 12314180 PRLR prolactin receptor gene DOID:12700 hyperprolactinemia ISO RGD:730871 D RGD:7240710 20180130 OMIM 12314180 PRLR prolactin receptor gene DOID:12700 hyperprolactinemia ISO RGD:730871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hyperprolactinemia PMID:25741868|PMID:30575453 12314180 PRLR prolactin receptor gene DOID:12849 autistic disorder ISO RGD:730871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18207134 12314180 PRLR prolactin receptor gene DOID:289 endometriosis ISO RGD:730871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12314180 PRLR prolactin receptor gene DOID:305 carcinoma ISO RGD:730871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:17173897 12314180 PRLR prolactin receptor gene DOID:5419 schizophrenia ISO RGD:730871 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12314180 PRLR prolactin receptor gene DOID:5426 primary ovarian insufficiency ISO RGD:730871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12314180 PRLR prolactin receptor gene DOID:630 genetic disease ISO RGD:730871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314180 PRLR prolactin receptor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:730871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:17173897 12314180 PRLR prolactin receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12314180 PRLR prolactin receptor gene DOID:9003281 Spontaneous Abortions ISO RGD:730871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12314180 PRLR prolactin receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12314180 PRLR prolactin receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3407 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 12314180 PRLR prolactin receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12314180 PRLR prolactin receptor gene DOID:9006829 Multiple Fibroadenomas of the Breast ISO RGD:730871 D RGD:7240710 20180130 OMIM 12314180 PRLR prolactin receptor gene DOID:9006829 Multiple Fibroadenomas of the Breast ISO RGD:730871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple fibroadenomas of the breast PMID:18779591 12314196 DDX42 DEAD-box helicase 42 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1312619 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone marrow mononuclear cell (human) PMID:16211284|REF_RGD_ID:9850279 12314196 DDX42 DEAD-box helicase 42 gene DOID:630 genetic disease ISO RGD:1312619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314196 DDX42 DEAD-box helicase 42 gene DOID:9007346 Cachexia ISO RGD:1304909 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:gastrocnemius muscle (rat) PMID:14718385|REF_RGD_ID:1641826 12314196 DDX42 DEAD-box helicase 42 gene DOID:9007346 Cachexia ISO RGD:1312620 D RGD:9068941 20200609 RGD associated with Malnutrition;mRNA:increased expression:gastrocnemius muscle (mouse) PMID:14718385|REF_RGD_ID:1641826 12314218 CACNA1I calcium voltage-gated channel subunit alpha1 I gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:68996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12314218 CACNA1I calcium voltage-gated channel subunit alpha1 I gene DOID:0060001 withdrawal disorder treatment ISO RGD:1621299 D RGD:9068941 20200609 RGD PMID:25871318|REF_RGD_ID:14995950 12314218 CACNA1I calcium voltage-gated channel subunit alpha1 I gene DOID:0080297 Coffin-Siris syndrome 6 ISO RGD:68996 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 6 PMID:25741868 12314218 CACNA1I calcium voltage-gated channel subunit alpha1 I gene DOID:10908 hydrocephalus ISO RGD:68996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868 12314218 CACNA1I calcium voltage-gated channel subunit alpha1 I gene DOID:11446 sciatic neuropathy ISO RGD:68944 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion PMID:22972512|REF_RGD_ID:15042903 12314218 CACNA1I calcium voltage-gated channel subunit alpha1 I gene DOID:5419 schizophrenia ISO RGD:68996 D RGD:9068941 20200609 RGD DNA:SNP: :rs4522708 (human) PMID:29308060|REF_RGD_ID:15042891 12314218 CACNA1I calcium voltage-gated channel subunit alpha1 I gene DOID:5419 schizophrenia ISO RGD:68996 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:28725167|REF_RGD_ID:15042892 12314218 CACNA1I calcium voltage-gated channel subunit alpha1 I gene DOID:630 genetic disease ISO RGD:68996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314218 CACNA1I calcium voltage-gated channel subunit alpha1 I gene DOID:9001736 Neurodevelopmental Disorder with Speech Impairment and with or without Seizures ISO RGD:68996 D RGD:7240710 20221123 OMIM 12314218 CACNA1I calcium voltage-gated channel subunit alpha1 I gene DOID:9001736 Neurodevelopmental Disorder with Speech Impairment and with or without Seizures ISO RGD:68996 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with speech impairment and with or without seizures PMID:33704440 12314218 CACNA1I calcium voltage-gated channel subunit alpha1 I gene DOID:9002211 Hyperalgesia ISO RGD:68944 D RGD:9068941 20200609 RGD PMID:17112407|REF_RGD_ID:15003199 12314218 CACNA1I calcium voltage-gated channel subunit alpha1 I gene DOID:9008086 Developmental Disabilities ISO RGD:68996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12314218 CACNA1I calcium voltage-gated channel subunit alpha1 I gene DOID:9009131 Ventriculomegaly ISO RGD:68996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868 12314261 OPRM1 opioid receptor mu 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1551432 D RGD:9068941 20220825 MouseDO 12314261 OPRM1 opioid receptor mu 1 gene DOID:11162 respiratory failure ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27192616 12314261 OPRM1 opioid receptor mu 1 gene DOID:13413 hepatic encephalopathy ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11991257 12314261 OPRM1 opioid receptor mu 1 gene DOID:1574 alcohol use disorder ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12815747 12314261 OPRM1 opioid receptor mu 1 gene DOID:1826 epilepsy ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2415332 12314261 OPRM1 opioid receptor mu 1 gene DOID:1883 hepatitis C ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12937158|PMID:17299060 12314261 OPRM1 opioid receptor mu 1 gene DOID:2316 brain ischemia ISO RGD:3234 D RGD:9068941 20200609 RGD PMID:16176345|REF_RGD_ID:2316630 12314261 OPRM1 opioid receptor mu 1 gene DOID:2559 opiate dependence ISO RGD:737513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Opioid dependence, susceptibility to, 1 PMID:11134674|PMID:11773858|PMID:11773859|PMID:15037869|PMID:15086512|PMID:16046395|PMID:16387451|PMID:16682632|PMID:16906017|PMID:19528658|PMID:9193881|PMID:9689128 12314261 OPRM1 opioid receptor mu 1 gene DOID:2560 morphine dependence ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3720824 12314261 OPRM1 opioid receptor mu 1 gene DOID:303 substance-related disorder ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27192616 12314261 OPRM1 opioid receptor mu 1 gene DOID:480 movement disease ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20298714 12314261 OPRM1 opioid receptor mu 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:3234 D RGD:9068941 20200609 RGD mRNA:increased expression:macrophage PMID:17553897|REF_RGD_ID:2316609 12314261 OPRM1 opioid receptor mu 1 gene DOID:630 genetic disease ISO RGD:737513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314261 OPRM1 opioid receptor mu 1 gene DOID:646 viral encephalitis ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27400929 12314261 OPRM1 opioid receptor mu 1 gene DOID:670 amphetamine abuse ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16402083 12314261 OPRM1 opioid receptor mu 1 gene DOID:8646 substance-induced psychosis ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16402083 12314261 OPRM1 opioid receptor mu 1 gene DOID:9000641 Pain ISO RGD:3234 D RGD:9068941 20200609 RGD PMID:12710986|REF_RGD_ID:2316589 12314261 OPRM1 opioid receptor mu 1 gene DOID:9001581 Constipation ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27192616 12314261 OPRM1 opioid receptor mu 1 gene DOID:9002211 Hyperalgesia ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17996026 12314261 OPRM1 opioid receptor mu 1 gene DOID:9002916 Hyperphagia ISO RGD:3234 D RGD:9068941 20200609 RGD PMID:9808678|REF_RGD_ID:9831410 12314261 OPRM1 opioid receptor mu 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3234 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:hippocampus PMID:17360495|REF_RGD_ID:2316611 12314261 OPRM1 opioid receptor mu 1 gene DOID:9004086 AIDS Dementia Complex ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27400929 12314261 OPRM1 opioid receptor mu 1 gene DOID:9004751 Nausea ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27192616 12314261 OPRM1 opioid receptor mu 1 gene DOID:9005372 Inflammation ISO RGD:3234 D RGD:9068941 20200609 RGD protein:increased internalization:spinal cord PMID:19298846|REF_RGD_ID:2316601 12314261 OPRM1 opioid receptor mu 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12815747|PMID:16893609|PMID:18762918 12314261 OPRM1 opioid receptor mu 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3234 D RGD:9068941 20200609 RGD PMID:16901587|REF_RGD_ID:2316626 12314261 OPRM1 opioid receptor mu 1 gene DOID:9005950 Orthostatic Hypotension ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2981652 12314261 OPRM1 opioid receptor mu 1 gene DOID:9005968 Neuralgia ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14718584|PMID:18400411 12314261 OPRM1 opioid receptor mu 1 gene DOID:9006202 Pruritus ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27192616 12314261 OPRM1 opioid receptor mu 1 gene DOID:9008675 Dyskinesias ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16435402 12314261 OPRM1 opioid receptor mu 1 gene DOID:9976 heroin dependence ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20201854 12314269 GAB2 GRB2 associated binding protein 2 gene DOID:1059 intellectual disability ISO RGD:737428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12314269 GAB2 GRB2 associated binding protein 2 gene DOID:1909 melanoma ISO RGD:737428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12314269 GAB2 GRB2 associated binding protein 2 gene DOID:630 genetic disease ISO RGD:737428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314269 GAB2 GRB2 associated binding protein 2 gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:737428 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow PMID:22858987|REF_RGD_ID:13699433 12314269 GAB2 GRB2 associated binding protein 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21996746 12314269 GAB2 GRB2 associated binding protein 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21996746 12314284 PROCR protein C receptor gene DOID:12365 malaria disease_progression ISO RGD:1314349 D RGD:9068941 20210507 RGD PMID:27671831|REF_RGD_ID:126848795 12314284 PROCR protein C receptor gene DOID:13001 carotid stenosis ISO RGD:1305991 D RGD:9068941 20200609 RGD associated with Neointima PMID:21903947|REF_RGD_ID:13515129 12314284 PROCR protein C receptor gene DOID:2843 long QT syndrome ISO RGD:1314349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12314284 PROCR protein C receptor gene DOID:3021 acute kidney failure treatment ISO RGD:1305991 D RGD:9068941 20200609 RGD associated with Sepsis PMID:23807243|REF_RGD_ID:10755583 12314284 PROCR protein C receptor gene DOID:3393 coronary artery disease ISO RGD:1314349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28530674 12314284 PROCR protein C receptor gene DOID:630 genetic disease ISO RGD:1314349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314284 PROCR protein C receptor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:1305991 D RGD:9068941 20200609 RGD PMID:27771530|REF_RGD_ID:13515125 12314284 PROCR protein C receptor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:1314350 D RGD:9068941 20200609 RGD PMID:27771530|REF_RGD_ID:13515125 12314284 PROCR protein C receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12314284 PROCR protein C receptor gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1305991 D RGD:9068941 20200609 RGD PMID:20095324|REF_RGD_ID:13515130 12314284 PROCR protein C receptor gene DOID:9005372 Inflammation ISO RGD:1314349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23774263 12314284 PROCR protein C receptor gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:1305991 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:25688263|REF_RGD_ID:13515127 12314284 PROCR protein C receptor gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:1305991 D RGD:9068941 20200609 RGD PMID:24749346|REF_RGD_ID:13515128 12314284 PROCR protein C receptor gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:1305991 D RGD:9068941 20200609 RGD PMID:26994471|REF_RGD_ID:13515126 12314299 AEN apoptosis enhancing nuclease gene DOID:2717 Bloom syndrome ISO RGD:1601976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12314299 AEN apoptosis enhancing nuclease gene DOID:630 genetic disease ISO RGD:1601976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314299 AEN apoptosis enhancing nuclease gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1601976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12314299 AEN apoptosis enhancing nuclease gene DOID:9256 colorectal cancer ISO RGD:1601976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12314307 SPIRE1 spire type actin nucleation factor 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1354236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12314307 SPIRE1 spire type actin nucleation factor 1 gene DOID:1059 intellectual disability ISO RGD:1354236 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12314307 SPIRE1 spire type actin nucleation factor 1 gene DOID:543 dystonia ISO RGD:1354236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 12314307 SPIRE1 spire type actin nucleation factor 1 gene DOID:630 genetic disease ISO RGD:1354236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314326 EXOC5 exocyst complex component 5 gene DOID:0070314 obstructive nephropathy ISO RGD:1622168 D RGD:9068941 20220825 MouseDO 12314326 EXOC5 exocyst complex component 5 gene DOID:630 genetic disease ISO RGD:731494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314348 SP6 Sp6 transcription factor gene DOID:2187 amelogenesis imperfecta ISO RGD:1306768 D RGD:9068941 20210423 RGD PMID:22676574|REF_RGD_ID:10047189 12314348 SP6 Sp6 transcription factor gene DOID:630 genetic disease ISO RGD:1315575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314348 SP6 Sp6 transcription factor gene DOID:9002275 Amelogenesis Imperfecta Type 1K ISO RGD:1315575 D RGD:7240710 20221102 OMIM 12314354 LOC609048 dihydrofolate reductase gene DOID:0111003 Joubert syndrome 8 ISO RGD:1346515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 8 PMID:28492532 12314354 LOC609048 dihydrofolate reductase gene DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency ISO RGD:1346515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive PMID:16363235|PMID:22627709|PMID:28492532|PMID:9241758 12314354 LOC609048 dihydrofolate reductase gene DOID:2451 protein S deficiency ISO RGD:1346515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Protein S deficiency disease PMID:32581362 12314369 BATF basic leucine zipper ATF-like transcription factor gene DOID:1059 intellectual disability ISO RGD:1312643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12314369 BATF basic leucine zipper ATF-like transcription factor gene DOID:630 genetic disease ISO RGD:1312643 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314376 SAMD10 sterile alpha motif domain containing 10 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12314376 SAMD10 sterile alpha motif domain containing 10 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1351691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12314376 SAMD10 sterile alpha motif domain containing 10 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12314376 SAMD10 sterile alpha motif domain containing 10 gene DOID:630 genetic disease ISO RGD:1351691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314392 C24H20orf202 chromosome 24 C20orf202 homolog gene DOID:630 genetic disease ISO RGD:1602798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314402 DLL1 delta like canonical Notch ligand 1 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:733842 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:25741868 12314402 DLL1 delta like canonical Notch ligand 1 gene DOID:10283 prostate cancer ISO RGD:733842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12314402 DLL1 delta like canonical Notch ligand 1 gene DOID:13375 temporal arteritis ISO RGD:733842 D RGD:9068941 20200609 RGD mRNA:increased expression:temporal artery PMID:21220737|REF_RGD_ID:6482238 12314402 DLL1 delta like canonical Notch ligand 1 gene DOID:4621 holoprosencephaly ISO RGD:733842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alobar holoprosencephaly | ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12314402 DLL1 delta like canonical Notch ligand 1 gene DOID:630 genetic disease ISO RGD:733842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31353024 12314402 DLL1 delta like canonical Notch ligand 1 gene DOID:9001694 NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES ISO RGD:733842 D RGD:7240710 20200115 OMIM 12314402 DLL1 delta like canonical Notch ligand 1 gene DOID:9001694 NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES ISO RGD:733842 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures PMID:16718694|PMID:21714819|PMID:25741868|PMID:28492532|PMID:31353024 12314402 DLL1 delta like canonical Notch ligand 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:733843 D RGD:9068941 20200609 RGD PMID:17947672|REF_RGD_ID:6482235 12314402 DLL1 delta like canonical Notch ligand 1 gene DOID:9006190 Chronic Pancreatitis ISO RGD:733842 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:pancreas PMID:17114010|REF_RGD_ID:6482236 12314402 DLL1 delta like canonical Notch ligand 1 gene DOID:9007502 Brain Neoplasms ISO RGD:733842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 12314402 DLL1 delta like canonical Notch ligand 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 12314415 FOXO4 forkhead box O4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12314415 FOXO4 forkhead box O4 gene DOID:0080147 lymphoblastic lymphoma ISO RGD:1556902 D RGD:9068941 20221027 RGD PMID:17254969|REF_RGD_ID:155630604 12314415 FOXO4 forkhead box O4 gene DOID:1059 intellectual disability ISO RGD:1353756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12314415 FOXO4 forkhead box O4 gene DOID:10808 gastric ulcer ISO RGD:1561201 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:gastric mucosa: PMID:22735908|REF_RGD_ID:10402364 12314415 FOXO4 forkhead box O4 gene DOID:12849 autistic disorder ISO RGD:1353756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12314415 FOXO4 forkhead box O4 gene DOID:251 alcohol-induced mental disorder ISO RGD:1561201 D RGD:9068941 20200609 RGD protein:increased phosphorylation:small intestine: PMID:23292333|REF_RGD_ID:10402360 12314415 FOXO4 forkhead box O4 gene DOID:255 hemangioma ISO RGD:1556902 D RGD:9068941 20221027 RGD PMID:17254969|REF_RGD_ID:155630604 12314415 FOXO4 forkhead box O4 gene DOID:607 paraplegia ISO RGD:1561201 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle: PMID:18236467|REF_RGD_ID:5509082 12314415 FOXO4 forkhead box O4 gene DOID:630 genetic disease ISO RGD:1353756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314415 FOXO4 forkhead box O4 gene DOID:9002514 Neointima ISO RGD:1556902 D RGD:9068941 20200609 RGD PMID:17242183|REF_RGD_ID:10402361 12314415 FOXO4 forkhead box O4 gene DOID:9002514 Neointima ISO RGD:1556902 D RGD:9068941 20200609 RGD protein:increased expression:smooth muscle cell: PMID:16054032|REF_RGD_ID:10402362 12314415 FOXO4 forkhead box O4 gene DOID:9007898 FG Syndrome 1 ISO RGD:1353756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 12314415 FOXO4 forkhead box O4 gene DOID:9008824 Sarcopenia ISO RGD:1561201 D RGD:9068941 20200609 RGD PMID:16870627|REF_RGD_ID:10402356 12314422 MIR450B microRNA mir-450b gene DOID:12849 autistic disorder ISO RGD:2290251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12314450 LOC106559057 zinc finger protein 569-like gene DOID:630 genetic disease ISO RGD:1354291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314450 LOC106559057 zinc finger protein 569-like gene DOID:9008443 Colorectal Neoplasms ISO RGD:1354291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 12314459 IFNG interferon gamma gene DOID:0040084 Streptococcus pneumonia ISO RGD:737488 D RGD:9068941 20201117 RGD protein:increased expression:lung,natural killer cell (mouse) PMID:21887255|REF_RGD_ID:40818252 12314459 IFNG interferon gamma gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 12314459 IFNG interferon gamma gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23962110 12314459 IFNG interferon gamma gene DOID:0050523 adult T-cell leukemia/lymphoma treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:8800741|REF_RGD_ID:10755707 12314459 IFNG interferon gamma gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:31062617|REF_RGD_ID:14975125 12314459 IFNG interferon gamma gene DOID:0050700 cardiomyopathy ISO RGD:737488 D RGD:9068941 20220825 MouseDO 12314459 IFNG interferon gamma gene DOID:0050855 renal fibrosis no_association ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:8289579|REF_RGD_ID:10755751 12314459 IFNG interferon gamma gene DOID:0050855 renal fibrosis treatment ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:10594787|REF_RGD_ID:10755746 12314459 IFNG interferon gamma gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:2866 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:17338814|REF_RGD_ID:8662972 12314459 IFNG interferon gamma gene DOID:0050902 medulloblastoma ISO RGD:737488 D RGD:9068941 20220825 MouseDO OMIM:155255 12314459 IFNG interferon gamma gene DOID:0060180 colitis ISO RGD:732457 D RGD:9068941 20220114 RGD PMID:16717119|REF_RGD_ID:150573704 12314459 IFNG interferon gamma gene DOID:0060180 colitis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24548422 12314459 IFNG interferon gamma gene DOID:0060318 acute promyelocytic leukemia ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22617429 12314459 IFNG interferon gamma gene DOID:0060319 cardiac arrest ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9806674 12314459 IFNG interferon gamma gene DOID:0060704 lymphoproliferative syndrome ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22617429 12314459 IFNG interferon gamma gene DOID:0080074 neural tube defect ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17075842 12314459 IFNG interferon gamma gene DOID:0080158 herpes simplex virus keratitis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:12162877|REF_RGD_ID:8157603 12314459 IFNG interferon gamma gene DOID:0080162 lupus nephritis ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:serum,urine PMID:22764573|REF_RGD_ID:6893369 12314459 IFNG interferon gamma gene DOID:0080162 lupus nephritis ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased processing:kidney PMID:29925830|REF_RGD_ID:14974252 12314459 IFNG interferon gamma gene DOID:0080162 lupus nephritis ISO RGD:737487 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:31182691 12314459 IFNG interferon gamma gene DOID:0080199 colorectal carcinoma ISO RGD:732457 D RGD:9068941 20220114 RGD PMID:16717119|REF_RGD_ID:150573704 12314459 IFNG interferon gamma gene DOID:0080325 tuberous sclerosis 2 ISO RGD:737487 D RGD:7240710 20180130 OMIM 12314459 IFNG interferon gamma gene DOID:0080545 hyper IgE syndrome ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16112032 12314459 IFNG interferon gamma gene DOID:0080547 non-alcoholic steatohepatitis ameliorates ISO RGD:737488 D RGD:9068941 20210702 RGD PMID:28100771|REF_RGD_ID:127285675 12314459 IFNG interferon gamma gene DOID:0080599 Coronavirus infectious disease ISO RGD:737488 D RGD:9068941 20200618 RGD PMID:19906920|REF_RGD_ID:4891446 12314459 IFNG interferon gamma gene DOID:0080600 COVID-19 ISO RGD:737487 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12314459 IFNG interferon gamma gene DOID:0080600 COVID-19 ISO RGD:737487 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 12314459 IFNG interferon gamma gene DOID:0080600 COVID-19 severity ISO RGD:737487 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 12314459 IFNG interferon gamma gene DOID:0080642 Middle East respiratory syndrome treatment ISO RGD:737488 D RGD:9068941 20200625 RGD PMID:30634407|REF_RGD_ID:30309958 12314459 IFNG interferon gamma gene DOID:0080745 polymyositis ISO RGD:737487 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:19953283|REF_RGD_ID:7794747 12314459 IFNG interferon gamma gene DOID:0081120 Graves ophthalmopathy ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:8444271|REF_RGD_ID:7794734 12314459 IFNG interferon gamma gene DOID:0081267 graft-versus-host disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22077062 12314459 IFNG interferon gamma gene DOID:0081267 graft-versus-host disease susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:repeats:intron: PMID:16409297|REF_RGD_ID:10755684 12314459 IFNG interferon gamma gene DOID:0081267 graft-versus-host disease susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD associated with Cytomegalovirus Infections; DNA:repeats:intron: PMID:19747638|REF_RGD_ID:10755687 12314459 IFNG interferon gamma gene DOID:0112006 immunodeficiency 69 ISO RGD:737487 D RGD:7240710 20200812 OMIM 12314459 IFNG interferon gamma gene DOID:0112006 immunodeficiency 69 ISO RGD:737487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 69 PMID:24033266|PMID:25741868|PMID:32163377 12314459 IFNG interferon gamma gene DOID:10003 sensorineural hearing loss ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:15937357|REF_RGD_ID:7987908 12314459 IFNG interferon gamma gene DOID:10003 sensorineural hearing loss ISO RGD:737487 D RGD:9068941 20200609 RGD associated with Hearing Loss, Sensorineural;protein:increased expression:serum: PMID:19684145|REF_RGD_ID:8142347 12314459 IFNG interferon gamma gene DOID:10223 dermatomyositis ISO RGD:737487 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:19953283|REF_RGD_ID:7794747 12314459 IFNG interferon gamma gene DOID:10457 Legionnaires' disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11349020 12314459 IFNG interferon gamma gene DOID:10588 adrenoleukodystrophy ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16319717 12314459 IFNG interferon gamma gene DOID:10608 celiac disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 12314459 IFNG interferon gamma gene DOID:10608 celiac disease ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:26440733|REF_RGD_ID:14974259 12314459 IFNG interferon gamma gene DOID:1074 kidney failure ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3091246|PMID:8289579 12314459 IFNG interferon gamma gene DOID:10754 otitis media ISO RGD:737487 D RGD:9068941 20200609 RGD associated with adenoidal hypertrophy; protein:decreased expression:T cell: PMID:18266836|REF_RGD_ID:7987910 12314459 IFNG interferon gamma gene DOID:10754 otitis media ISO RGD:737488 D RGD:9068941 20200609 RGD associated with Pneumococcal infections; PMID:16730398|REF_RGD_ID:8142343 12314459 IFNG interferon gamma gene DOID:10952 nephritis ISO RGD:737487 D RGD:9068941 20200609 RGD associated with bacterial infection;protein:increased expression:serum PMID:22752353|REF_RGD_ID:6893461 12314459 IFNG interferon gamma gene DOID:11054 urinary bladder cancer ISO RGD:737487 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:22906662|REF_RGD_ID:6893349 12314459 IFNG interferon gamma gene DOID:11054 urinary bladder cancer treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:11219496|REF_RGD_ID:8157619 12314459 IFNG interferon gamma gene DOID:11077 brucellosis treatment ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:27916101|REF_RGD_ID:14974260 12314459 IFNG interferon gamma gene DOID:11121 pulpitis ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:12017181|REF_RGD_ID:10755771 12314459 IFNG interferon gamma gene DOID:1115 sarcoma ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9794839 12314459 IFNG interferon gamma gene DOID:11204 allergic conjunctivitis ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:12234900|REF_RGD_ID:8142386 12314459 IFNG interferon gamma gene DOID:11204 allergic conjunctivitis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:16123425|REF_RGD_ID:8142391 12314459 IFNG interferon gamma gene DOID:11263 chlamydia ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19203382 12314459 IFNG interferon gamma gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome severity ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22613426|REF_RGD_ID:6893374 12314459 IFNG interferon gamma gene DOID:11406 choroiditis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:10227812|REF_RGD_ID:8157614 12314459 IFNG interferon gamma gene DOID:11506 suppurative otitis media disease_progression ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:19640314|REF_RGD_ID:8142346 12314459 IFNG interferon gamma gene DOID:11832 visual epilepsy ISO RGD:2866 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus: PMID:19944569|REF_RGD_ID:10755768 12314459 IFNG interferon gamma gene DOID:12030 panuveitis ISO RGD:2866 D RGD:9068941 20200609 RGD protein:increased expression:iris neuron PMID:9797675|REF_RGD_ID:8142379 12314459 IFNG interferon gamma gene DOID:1205 allergic disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10886234|PMID:21625544 12314459 IFNG interferon gamma gene DOID:12134 factor VIII deficiency treatment ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:SNP: :+874 A>T (human) PMID:25930091|REF_RGD_ID:11055683 12314459 IFNG interferon gamma gene DOID:12140 Chagas disease ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:10684988|REF_RGD_ID:10755744 12314459 IFNG interferon gamma gene DOID:12236 primary biliary cholangitis ISO RGD:737487 D RGD:9068941 20200820 RGD mRNA:increased expression:liver PMID:17158635|REF_RGD_ID:38501106 12314459 IFNG interferon gamma gene DOID:12297 Vogt-Koyanagi-Harada disease ISO RGD:737487 D RGD:9068941 20200609 RGD associated with uveitis;protein:increased expression:aqueous humor: PMID:21334264|REF_RGD_ID:8142356 12314459 IFNG interferon gamma gene DOID:12306 vitiligo onset ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:rs2430561(human) PMID:23777204|REF_RGD_ID:8157616 12314459 IFNG interferon gamma gene DOID:12306 vitiligo susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:repeats:intron:rs3138557(human) PMID:23777204|REF_RGD_ID:8157616 12314459 IFNG interferon gamma gene DOID:12361 Graves' disease ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:2125901|REF_RGD_ID:8142373 12314459 IFNG interferon gamma gene DOID:12361 Graves' disease ISO RGD:737487 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 12314459 IFNG interferon gamma gene DOID:12361 Graves' disease ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:15544617|REF_RGD_ID:8157604 12314459 IFNG interferon gamma gene DOID:12361 Graves' disease susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:microsatellite repeats:intron: PMID:9848715|REF_RGD_ID:8142372 12314459 IFNG interferon gamma gene DOID:12361 Graves' disease susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:+874A>T(human) PMID:16970687|REF_RGD_ID:8157599 12314459 IFNG interferon gamma gene DOID:12361 Graves' disease treatment ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:repeats:intron: PMID:15068623|REF_RGD_ID:8142393 12314459 IFNG interferon gamma gene DOID:12365 malaria ISO RGD:737488 D RGD:9068941 20220825 MouseDO OMIM:609148 | OMIM:611162 12314459 IFNG interferon gamma gene DOID:12449 aplastic anemia ISO RGD:737487 D RGD:7240710 20180130 OMIM 12314459 IFNG interferon gamma gene DOID:12449 aplastic anemia ISO RGD:737487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aplastic anemia 12314459 IFNG interferon gamma gene DOID:12449 aplastic anemia susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:polymorphism: : 874A>T(human) PMID:18426658|REF_RGD_ID:10755710 12314459 IFNG interferon gamma gene DOID:12449 aplastic anemia susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:repeats:intron: PMID:15327519|REF_RGD_ID:10755688 12314459 IFNG interferon gamma gene DOID:12449 aplastic anemia treatment ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:repeats,haplotype:intron: -2,353 A>T(human) PMID:20953611|REF_RGD_ID:10755690 12314459 IFNG interferon gamma gene DOID:1252 trichuriasis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864659 12314459 IFNG interferon gamma gene DOID:12704 ataxia telangiectasia ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:6432389|REF_RGD_ID:8693328 12314459 IFNG interferon gamma gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937650 12314459 IFNG interferon gamma gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:737487 D RGD:9068941 20200609 RGD associated with Otitis media;protein:increased expression:serum: PMID:19352211|REF_RGD_ID:8142352 12314459 IFNG interferon gamma gene DOID:12849 autistic disorder ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16360218 12314459 IFNG interferon gamma gene DOID:12894 Sjogren's syndrome ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:28421993|REF_RGD_ID:14975117 12314459 IFNG interferon gamma gene DOID:12894 Sjogren's syndrome ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:15584966|REF_RGD_ID:8142390 12314459 IFNG interferon gamma gene DOID:13141 uveitis ISO RGD:737487 D RGD:9068941 20200609 RGD associated with Behcet's disease PMID:29534057|REF_RGD_ID:14974251 12314459 IFNG interferon gamma gene DOID:13141 uveitis ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor,serum PMID:10865312|REF_RGD_ID:7365086 12314459 IFNG interferon gamma gene DOID:13141 uveitis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:15875359|REF_RGD_ID:8142394 12314459 IFNG interferon gamma gene DOID:13141 uveitis treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:15875359|REF_RGD_ID:8142394 12314459 IFNG interferon gamma gene DOID:13241 Behcet's disease ISO RGD:737487 D RGD:9068941 20200609 RGD associated with Uveitis; protein:increased expression:aqueous humor: PMID:21334264|REF_RGD_ID:8142356 12314459 IFNG interferon gamma gene DOID:13241 Behcet's disease ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:2154346|REF_RGD_ID:8142377 12314459 IFNG interferon gamma gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:737488 D RGD:9068941 20200609 RGD mRNA:increased expression:lung: PMID:7935058|REF_RGD_ID:10755754 12314459 IFNG interferon gamma gene DOID:13375 temporal arteritis severity ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:repeats:intron: PMID:15675129|REF_RGD_ID:8157621 12314459 IFNG interferon gamma gene DOID:13515 tuberous sclerosis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16845661 12314459 IFNG interferon gamma gene DOID:13636 Fanconi anemia ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:24021704|REF_RGD_ID:11049161 12314459 IFNG interferon gamma gene DOID:1407 anterior uveitis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:10227812|REF_RGD_ID:8157614 12314459 IFNG interferon gamma gene DOID:14115 toxic shock syndrome ISO RGD:737487 D RGD:9068941 20200806 RGD protein:increased expression:plasma PMID:25403265|REF_RGD_ID:38455982 12314459 IFNG interferon gamma gene DOID:14176 selective IgG deficiency disease ISO RGD:737487 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood leukocyte: PMID:9042436|REF_RGD_ID:10755693 12314459 IFNG interferon gamma gene DOID:14566 disease of cellular proliferation ISO RGD:737488 D RGD:9068941 20200609 RGD DNA:mutations:multiple: Csf2,Ifng,Il3 PMID:21537082|REF_RGD_ID:5686773 12314459 IFNG interferon gamma gene DOID:1459 hypothyroidism treatment ISO RGD:2866 D RGD:9068941 20200903 RGD PMID:29896255|REF_RGD_ID:38549578 12314459 IFNG interferon gamma gene DOID:1532 pleural disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21357438 12314459 IFNG interferon gamma gene DOID:1557 hypersensitivity reaction type III disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1825860 12314459 IFNG interferon gamma gene DOID:1562 chromoblastomycosis treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:29481557|REF_RGD_ID:14975102 12314459 IFNG interferon gamma gene DOID:1579 respiratory system disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937650 12314459 IFNG interferon gamma gene DOID:1612 breast cancer susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:repeats:intron: PMID:15900487|REF_RGD_ID:8157615 12314459 IFNG interferon gamma gene DOID:1790 malignant mesothelioma ISO RGD:737487 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 12314459 IFNG interferon gamma gene DOID:1793 pancreatic cancer ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19152246|REF_RGD_ID:2317258 12314459 IFNG interferon gamma gene DOID:1883 hepatitis C ISO RGD:737487 D RGD:7240710 20230505 OMIM 12314459 IFNG interferon gamma gene DOID:1883 hepatitis C ISO RGD:737487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatitis C virus infection, response to therapy of PMID:17215375 12314459 IFNG interferon gamma gene DOID:1884 viral hepatitis ISO RGD:737487 D RGD:9068941 20200820 RGD mRNA:increased expression:liver PMID:17158635|REF_RGD_ID:38501106 12314459 IFNG interferon gamma gene DOID:1909 melanoma ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9794839 12314459 IFNG interferon gamma gene DOID:1936 atherosclerosis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9169506 12314459 IFNG interferon gamma gene DOID:2043 hepatitis B ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15994231|PMID:20610715 12314459 IFNG interferon gamma gene DOID:2048 autoimmune hepatitis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 12314459 IFNG interferon gamma gene DOID:2123 tularemia ISO RGD:737488 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:26853540|REF_RGD_ID:14974256 12314459 IFNG interferon gamma gene DOID:2237 hepatitis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3091246 12314459 IFNG interferon gamma gene DOID:2237 hepatitis ISO RGD:737488 D RGD:9068941 20220825 MouseDO 12314459 IFNG interferon gamma gene DOID:2377 multiple sclerosis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23517930 12314459 IFNG interferon gamma gene DOID:2377 multiple sclerosis susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:repeat:intron: (human) PMID:9818947|REF_RGD_ID:1358738 12314459 IFNG interferon gamma gene DOID:2556 relapsing polychondritis ISO RGD:737488 D RGD:9068941 20200609 RGD protein:increased expression:ear PMID:17606507|REF_RGD_ID:6483833 12314459 IFNG interferon gamma gene DOID:2799 bronchiolitis obliterans ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16137903 12314459 IFNG interferon gamma gene DOID:2841 asthma ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:20817868|REF_RGD_ID:4145651 12314459 IFNG interferon gamma gene DOID:2841 asthma ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:19542437|REF_RGD_ID:5128479 12314459 IFNG interferon gamma gene DOID:2841 asthma resistance ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:20953328|REF_RGD_ID:4145525 12314459 IFNG interferon gamma gene DOID:2841 asthma treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:12396623|REF_RGD_ID:10755706 12314459 IFNG interferon gamma gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:SNP: :874A>T (human) PMID:15718915|REF_RGD_ID:11049178 12314459 IFNG interferon gamma gene DOID:289 endometriosis ISO RGD:737487 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:29477012|REF_RGD_ID:14974258 12314459 IFNG interferon gamma gene DOID:2921 glomerulonephritis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1825860 12314459 IFNG interferon gamma gene DOID:2921 glomerulonephritis ISO RGD:737487 D RGD:9068941 20200609 RGD associated with kidney transplantation;mRNA:increased expression:kidney PMID:21546865|REF_RGD_ID:6893462 12314459 IFNG interferon gamma gene DOID:2921 glomerulonephritis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:22495297|REF_RGD_ID:6893377 12314459 IFNG interferon gamma gene DOID:2945 severe acute respiratory syndrome ISO RGD:737487 D RGD:9068941 20200702 RGD DNA:SNP:intron:+874A>T (rs2430561)(human) PMID:16672072|REF_RGD_ID:32716398 12314459 IFNG interferon gamma gene DOID:2945 severe acute respiratory syndrome ISO RGD:737487 D RGD:9068941 20200702 RGD protein:increased expression:peripheral blood mononuclear cells (human) PMID:16781892|PMID:17872527|PMID:19526193|REF_RGD_ID:32716396|REF_RGD_ID:32716397|REF_RGD_ID:32716400 12314459 IFNG interferon gamma gene DOID:2945 severe acute respiratory syndrome ISO RGD:737487 D RGD:9068941 20200702 RGD protein:increased expression:serum (human) PMID:15602737|REF_RGD_ID:32716399 12314459 IFNG interferon gamma gene DOID:2945 severe acute respiratory syndrome susceptibility ISO RGD:737487 D RGD:9068941 20200618 RGD DNA:polymorphism:cds:+874A>T(human) PMID:19258635|REF_RGD_ID:4891448 12314459 IFNG interferon gamma gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:737487 D RGD:9068941 20200702 RGD PMID:15865221|REF_RGD_ID:33769580 12314459 IFNG interferon gamma gene DOID:3042 allergic contact dermatitis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11312644|PMID:12484431|PMID:15347381 12314459 IFNG interferon gamma gene DOID:3070 high grade glioma ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:10078962|REF_RGD_ID:727266 12314459 IFNG interferon gamma gene DOID:3265 chronic granulomatous disease ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:22883043|REF_RGD_ID:6893353 12314459 IFNG interferon gamma gene DOID:3310 atopic dermatitis ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:22101570|REF_RGD_ID:8157618 12314459 IFNG interferon gamma gene DOID:3310 atopic dermatitis ISO RGD:737487 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:18249437|PMID:33274957 12314459 IFNG interferon gamma gene DOID:3492 mixed connective tissue disease ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19684145|REF_RGD_ID:8142347 12314459 IFNG interferon gamma gene DOID:3611 acute retinal necrosis syndrome ISO RGD:737487 D RGD:9068941 20200609 RGD associated with Herpes Zoster;protein:increased expression:vitreous humor: PMID:12928903|REF_RGD_ID:8142380 12314459 IFNG interferon gamma gene DOID:399 tuberculosis ISO RGD:737487 D RGD:7240710 20230505 OMIM 12314459 IFNG interferon gamma gene DOID:399 tuberculosis ISO RGD:737487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against PMID:10663562|PMID:11053629|PMID:12788577|PMID:18414898 12314459 IFNG interferon gamma gene DOID:417 autoimmune disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19077085|PMID:9647229 12314459 IFNG interferon gamma gene DOID:418 systemic scleroderma treatment ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:1418004|REF_RGD_ID:8157622 12314459 IFNG interferon gamma gene DOID:4481 allergic rhinitis treatment ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:18510219|REF_RGD_ID:10755770 12314459 IFNG interferon gamma gene DOID:4481 allergic rhinitis treatment ISO RGD:737487 D RGD:9068941 20200609 RGD associated with Asthma PMID:12787306|REF_RGD_ID:7829803 12314459 IFNG interferon gamma gene DOID:4692 endophthalmitis ISO RGD:2866 D RGD:9068941 20200609 RGD protein:increased expression:vitreous: PMID:16544114|REF_RGD_ID:7829753 12314459 IFNG interferon gamma gene DOID:5082 liver cirrhosis ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:12389079|REF_RGD_ID:10755749 12314459 IFNG interferon gamma gene DOID:5082 liver cirrhosis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:21664391|REF_RGD_ID:6893452 12314459 IFNG interferon gamma gene DOID:5199 ureteral obstruction ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:21216449|REF_RGD_ID:6893456 12314459 IFNG interferon gamma gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737487 D RGD:7240710 20230505 OMIM 12314459 IFNG interferon gamma gene DOID:530 eyelid disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17075842 12314459 IFNG interferon gamma gene DOID:552 pneumonia ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12314459 IFNG interferon gamma gene DOID:576 proteinuria ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3091246|PMID:8289579 12314459 IFNG interferon gamma gene DOID:5773 oral submucous fibrosis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 12314459 IFNG interferon gamma gene DOID:6000 congestive heart failure ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20938210|PMID:3091246 12314459 IFNG interferon gamma gene DOID:6132 bronchitis resistance ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:20953328|REF_RGD_ID:4145525 12314459 IFNG interferon gamma gene DOID:630 genetic disease ISO RGD:737487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314459 IFNG interferon gamma gene DOID:635 acquired immunodeficiency syndrome ISO RGD:737487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to PMID:12854077 12314459 IFNG interferon gamma gene DOID:639 acute disseminated encephalomyelitis disease_progression ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:T cell: PMID:11063842|REF_RGD_ID:8157598 12314459 IFNG interferon gamma gene DOID:684 hepatocellular carcinoma ISO RGD:737488 D RGD:9068941 20210423 RGD mRNA:increased expression:liver (mouse) PMID:26569409|REF_RGD_ID:11344640 12314459 IFNG interferon gamma gene DOID:7148 rheumatoid arthritis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22450443 12314459 IFNG interferon gamma gene DOID:7148 rheumatoid arthritis ISO RGD:737487 D RGD:9068941 20221117 RGD mRNA:increased expression:synovial (human) PMID:22660635|REF_RGD_ID:155663483 12314459 IFNG interferon gamma gene DOID:7148 rheumatoid arthritis treatment ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:1417133|REF_RGD_ID:8157623 12314459 IFNG interferon gamma gene DOID:7188 autoimmune thyroiditis ISO RGD:2866 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid: PMID:10560963|REF_RGD_ID:10755769 12314459 IFNG interferon gamma gene DOID:7693 abdominal aortic aneurysm ISO RGD:2866 D RGD:9068941 20201002 RGD protein:increased expression:serum (rat) PMID:15238617|REF_RGD_ID:1302825 12314459 IFNG interferon gamma gene DOID:813 septic arthritis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19203382 12314459 IFNG interferon gamma gene DOID:8283 peritonitis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19804847 12314459 IFNG interferon gamma gene DOID:8283 peritonitis treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:28593696|REF_RGD_ID:14974254 12314459 IFNG interferon gamma gene DOID:83 cataract ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:8188461|REF_RGD_ID:8157612 12314459 IFNG interferon gamma gene DOID:8337 appendicitis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367942 12314459 IFNG interferon gamma gene DOID:850 lung disease ISO RGD:737487 D RGD:9068941 20200806 RGD associated with HTLV-I Infections;protein:increased expression:bronchoalveolar lavage fluid: PMID:24292748|REF_RGD_ID:36947872 12314459 IFNG interferon gamma gene DOID:8692 myeloid leukemia treatment ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:20959405|REF_RGD_ID:10755686 12314459 IFNG interferon gamma gene DOID:874 bacterial pneumonia severity ISO RGD:737488 D RGD:9068941 20200820 RGD PMID:25398094|REF_RGD_ID:38501102 12314459 IFNG interferon gamma gene DOID:8778 Crohn's disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21829567 12314459 IFNG interferon gamma gene DOID:8778 Crohn's disease ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:28070144|REF_RGD_ID:14974261 12314459 IFNG interferon gamma gene DOID:9000099 Experimental Colitis ISO RGD:2866 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:15030379|REF_RGD_ID:10755756 12314459 IFNG interferon gamma gene DOID:9000099 Experimental Colitis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:27498708|REF_RGD_ID:14975101 12314459 IFNG interferon gamma gene DOID:9000304 Manganese Poisoning ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18041089 12314459 IFNG interferon gamma gene DOID:9000469 Viral Myocarditis treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:11092674|REF_RGD_ID:13702913 12314459 IFNG interferon gamma gene DOID:9000499 Alcoholic Intoxication treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:9514301|REF_RGD_ID:10755766 12314459 IFNG interferon gamma gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:2866 D RGD:9068941 20200609 RGD mRNA:increased expression:lung: PMID:8690457|REF_RGD_ID:10755761 12314459 IFNG interferon gamma gene DOID:9000855 Experimental Radiation Injuries ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11121210 12314459 IFNG interferon gamma gene DOID:9000972 Fever ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18282668|PMID:3091246 12314459 IFNG interferon gamma gene DOID:9001204 Dyspepsia treatment ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:28854971|REF_RGD_ID:14975120 12314459 IFNG interferon gamma gene DOID:9001415 Mycobacterium Infections ISO RGD:2866 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:lung PMID:19060451|REF_RGD_ID:2311490 12314459 IFNG interferon gamma gene DOID:9001455 Intestinal Helminthiasis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:29950724|REF_RGD_ID:14974257 12314459 IFNG interferon gamma gene DOID:9001472 Nasal Polyps ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa, tissue: PMID:9149164|REF_RGD_ID:8158035 12314459 IFNG interferon gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12389079|PMID:15996030|PMID:16953842|PMID:17347453 12314459 IFNG interferon gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737488 D RGD:9068941 20201023 RGD protein:increased expression:serum (mouse) PMID:28465467|REF_RGD_ID:39939037 12314459 IFNG interferon gamma gene DOID:9001708 Hemorrhagic Shock ISO RGD:2866 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19439114|REF_RGD_ID:2311495 12314459 IFNG interferon gamma gene DOID:9002165 Diabetic Nephropathies ISO RGD:737488 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, T cell PMID:22286547|REF_RGD_ID:6893364 12314459 IFNG interferon gamma gene DOID:9002170 Experimental Neoplasms ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15711825 12314459 IFNG interferon gamma gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:polymorphism: :847A>T(human) PMID:19757192|REF_RGD_ID:10755703 12314459 IFNG interferon gamma gene DOID:9002315 Kidney Calculi ISO RGD:737488 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus; mRNA:increased expression:kidney PMID:21514417|REF_RGD_ID:6893463 12314459 IFNG interferon gamma gene DOID:9002457 Experimental Arthritis ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:12412757|REF_RGD_ID:2311498 12314459 IFNG interferon gamma gene DOID:9002457 Experimental Arthritis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19203382|PMID:22450443 12314459 IFNG interferon gamma gene DOID:9002457 Experimental Arthritis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:7774621|REF_RGD_ID:10755750 12314459 IFNG interferon gamma gene DOID:9002605 Delayed Hypersensitivity ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:3139020|REF_RGD_ID:8157617 12314459 IFNG interferon gamma gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:15661899|REF_RGD_ID:7987912 12314459 IFNG interferon gamma gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:22896638|REF_RGD_ID:10755692 12314459 IFNG interferon gamma gene DOID:9002928 Colonic Neoplasms ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10866311 12314459 IFNG interferon gamma gene DOID:9002955 Nerve Degeneration ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15153526|PMID:16307444|PMID:19457078 12314459 IFNG interferon gamma gene DOID:9003566 Mesothelioma ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12768194 12314459 IFNG interferon gamma gene DOID:9004009 Reperfusion Injury ISO RGD:2866 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19514843|REF_RGD_ID:2308950 12314459 IFNG interferon gamma gene DOID:9004283 Transplant Rejection ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:22564629|REF_RGD_ID:7364833 12314459 IFNG interferon gamma gene DOID:9004484 Sepsis ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:27598601|REF_RGD_ID:14975121 12314459 IFNG interferon gamma gene DOID:9004484 Sepsis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9806674 12314459 IFNG interferon gamma gene DOID:9004484 Sepsis treatment ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:28711488|REF_RGD_ID:14974250 12314459 IFNG interferon gamma gene DOID:9004610 Acute Lung Injury ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:21767135|REF_RGD_ID:6480432 12314459 IFNG interferon gamma gene DOID:9004751 Nausea ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3091246 12314459 IFNG interferon gamma gene DOID:9005099 Salmonella Infections, Animal ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002714 12314459 IFNG interferon gamma gene DOID:9005172 Lung Neoplasms ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7614408 12314459 IFNG interferon gamma gene DOID:9005236 Drug Eruptions ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31150805 12314459 IFNG interferon gamma gene DOID:9005372 Inflammation ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21937650|PMID:22617429|PMID:23164921 12314459 IFNG interferon gamma gene DOID:9005372 Inflammation resistance ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:20953328|REF_RGD_ID:4145525 12314459 IFNG interferon gamma gene DOID:9005474 Experimental Sarcoma treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:2119881|REF_RGD_ID:10755752 12314459 IFNG interferon gamma gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2866 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:20213480|REF_RGD_ID:5147915 12314459 IFNG interferon gamma gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21340626 12314459 IFNG interferon gamma gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737488 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:18789669|REF_RGD_ID:2311492 12314459 IFNG interferon gamma gene DOID:9005749 Necrosis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10903806|PMID:10909967 12314459 IFNG interferon gamma gene DOID:9005930 Endotoxemia ISO RGD:2866 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:9195172|REF_RGD_ID:10755747 12314459 IFNG interferon gamma gene DOID:9006024 Hypotension ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3091246 12314459 IFNG interferon gamma gene DOID:9006190 Chronic Pancreatitis disease_progression ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:11345142|REF_RGD_ID:10755767 12314459 IFNG interferon gamma gene DOID:9006205 Animal Disease Models ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16845661 12314459 IFNG interferon gamma gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:28355607|REF_RGD_ID:14975115 12314459 IFNG interferon gamma gene DOID:9006449 Chills ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3091246 12314459 IFNG interferon gamma gene DOID:9006635 Hyponatremia ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3091246 12314459 IFNG interferon gamma gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:2866 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:eye: PMID:1572694|REF_RGD_ID:8142388 12314459 IFNG interferon gamma gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737487 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 12314459 IFNG interferon gamma gene DOID:9006941 Corneal Perforation ISO RGD:737488 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:corneal PMID:15832292|REF_RGD_ID:8157597 12314459 IFNG interferon gamma gene DOID:9007096 Stroke ISO RGD:737487 D RGD:9068941 20230225 RGD mRNA:decreased expression:lymphocyte PMID:31465536|REF_RGD_ID:156430320 12314459 IFNG interferon gamma gene DOID:9007355 Hashimoto Disease severity ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:+874A>T(human) PMID:16820703|REF_RGD_ID:8142375 12314459 IFNG interferon gamma gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12153990|PMID:21245496 12314459 IFNG interferon gamma gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:30013034|REF_RGD_ID:14975100 12314459 IFNG interferon gamma gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:737488 D RGD:9068941 20200828 RGD mRNA:altered expression:gastric antrum (mouse) PMID:29085807|REF_RGD_ID:38549349 12314459 IFNG interferon gamma gene DOID:9008163 Chronic Hepatitis B ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:26684441|REF_RGD_ID:14974255 12314459 IFNG interferon gamma gene DOID:9008163 Chronic Hepatitis B ISO RGD:737487 D RGD:9068941 20201023 RGD protein:decreased expression:serum (human) PMID:28465467|REF_RGD_ID:39939037 12314459 IFNG interferon gamma gene DOID:9008207 Chronic Thyroiditis susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:+874A>T(human) PMID:16970687|REF_RGD_ID:8157599 12314459 IFNG interferon gamma gene DOID:9008385 Vomiting ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3091246 12314459 IFNG interferon gamma gene DOID:9008821 Otitis Media with Effusion ISO RGD:737487 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:16055981|REF_RGD_ID:7987911 12314459 IFNG interferon gamma gene DOID:9008821 Otitis Media with Effusion ISO RGD:737488 D RGD:9068941 20200609 RGD protein:decreased expression:middle ear: PMID:15938212|REF_RGD_ID:8142354 12314459 IFNG interferon gamma gene DOID:9008865 Entamoebiasis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16374615 12314459 IFNG interferon gamma gene DOID:9008865 Entamoebiasis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:29255076|REF_RGD_ID:14975099 12314459 IFNG interferon gamma gene DOID:9008939 Breast Neoplasms ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19446661 12314459 IFNG interferon gamma gene DOID:9065 leishmaniasis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16540374|PMID:17218153 12314459 IFNG interferon gamma gene DOID:9065 leishmaniasis ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:2145107|REF_RGD_ID:7829781 12314459 IFNG interferon gamma gene DOID:9074 systemic lupus erythematosus ISO RGD:737487 D RGD:9068941 20200609 RGD mRNA:increased expression:leukocyte,mononuclear PMID:22759859|REF_RGD_ID:6893373 12314459 IFNG interferon gamma gene DOID:9074 systemic lupus erythematosus ISO RGD:737487 D RGD:9068941 20221117 RGD mRNA:increased expression:kidney (human) PMID:22660635|REF_RGD_ID:155663483 12314459 IFNG interferon gamma gene DOID:9074 systemic lupus erythematosus ISO RGD:737488 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus PMID:29925830|REF_RGD_ID:14974252 12314459 IFNG interferon gamma gene DOID:9111 cutaneous leishmaniasis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20102417|PMID:8154019|PMID:9234779 12314459 IFNG interferon gamma gene DOID:9111 cutaneous leishmaniasis treatment ISO RGD:737488 D RGD:9068941 20201211 RGD PMID:27999013|REF_RGD_ID:40890273 12314459 IFNG interferon gamma gene DOID:9123 eczema herpeticum ISO RGD:737487 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:peripheral mononuclear cell: PMID:21458658|REF_RGD_ID:6480259 12314459 IFNG interferon gamma gene DOID:9123 eczema herpeticum susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:haplotype:: PMID:21458658|REF_RGD_ID:6480259 12314459 IFNG interferon gamma gene DOID:9146 visceral leishmaniasis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1901333|PMID:7854095 12314459 IFNG interferon gamma gene DOID:9146 visceral leishmaniasis treatment ISO RGD:737488 D RGD:9068941 20201211 RGD PMID:27999013|PMID:3104456|REF_RGD_ID:40890273|REF_RGD_ID:8158041 12314459 IFNG interferon gamma gene DOID:9155 mucocutaneous leishmaniasis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7854095 12314459 IFNG interferon gamma gene DOID:9201 lichen planus ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:3139020|REF_RGD_ID:8157617 12314459 IFNG interferon gamma gene DOID:9352 type 2 diabetes mellitus ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:18852529|REF_RGD_ID:2311491 12314459 IFNG interferon gamma gene DOID:936 brain disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18282668 12314459 IFNG interferon gamma gene DOID:9362 status asthmaticus resistance ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:20817868|REF_RGD_ID:4145651 12314459 IFNG interferon gamma gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:2866 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 12314459 IFNG interferon gamma gene DOID:9620 vesicoureteral reflux ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:polymorphism: : 874T>A (human) PMID:22906585|REF_RGD_ID:6893460 12314459 IFNG interferon gamma gene DOID:9743 diabetic neuropathy ISO RGD:737487 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :874A>T (human) PMID:19608431|REF_RGD_ID:2311489 12314459 IFNG interferon gamma gene DOID:9744 type 1 diabetes mellitus ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:8977415|REF_RGD_ID:10755748 12314459 IFNG interferon gamma gene DOID:9744 type 1 diabetes mellitus ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21340626 12314459 IFNG interferon gamma gene DOID:9744 type 1 diabetes mellitus ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:18644830|REF_RGD_ID:2311493 12314459 IFNG interferon gamma gene DOID:9744 type 1 diabetes mellitus ISO RGD:737488 D RGD:9068941 20220825 MouseDO OMIM:222100 12314459 IFNG interferon gamma gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:SNP: :rs2069727(human) PMID:21067287|REF_RGD_ID:10755691 12314459 IFNG interferon gamma gene DOID:9970 obesity ISO RGD:2866 D RGD:9068941 20200609 RGD associated with Asthma;protein:increased expression:serum PMID:19575934|REF_RGD_ID:2311494 12314459 Ifng interferon gamma gene DOID:10140 dry eye syndrome ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:17525184|REF_RGD_ID:8157601 12314459 Ifng interferon gamma gene DOID:8704 genital herpes ISO RGD:737488 D RGD:9068941 20200609 RGD protein:increased expression:vaginal secretion: PMID:10366565|REF_RGD_ID:8158034 12314467 RAB5B RAB5B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1315136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314467 RAB5B RAB5B, member RAS oncogene family gene DOID:9001026 Pulmonary Surfactant Metabolism Dysfunction 1 ISO RGD:1315136 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: RAB5B-associated surfactant dysfunction disorder PMID:25741868|PMID:35121658 12314477 SF1 splicing factor 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1346504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12314477 SF1 splicing factor 1 gene DOID:1059 intellectual disability ISO RGD:1346504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12314477 SF1 splicing factor 1 gene DOID:1909 melanoma ISO RGD:1346504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12314477 SF1 splicing factor 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12314477 SF1 splicing factor 1 gene DOID:2746 glycogen storage disease V ISO RGD:1346504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12314477 SF1 splicing factor 1 gene DOID:3070 high grade glioma ISO RGD:1346504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12314477 SF1 splicing factor 1 gene DOID:326 ischemia ISO RGD:620645 D RGD:9068941 20200609 RGD PMID:10103072|REF_RGD_ID:727772 12314477 SF1 splicing factor 1 gene DOID:630 genetic disease ISO RGD:1346504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314477 SF1 splicing factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12314523 KIF9 kinesin family member 9 gene DOID:630 genetic disease ISO RGD:1313687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314523 KIF9 kinesin family member 9 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1313687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12314523 KIF9 kinesin family member 9 gene DOID:9008051 Luscan-Lumish Syndrome ISO RGD:1313687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Luscan-Lumish syndrome PMID:28492532 12314567 BABAM1 BRISC and BRCA1 A complex member 1 gene DOID:630 genetic disease ISO RGD:1602893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314567 BABAM1 BRISC and BRCA1 A complex member 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1602893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20852633 12314580 ADA adenosine deaminase gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:736149 D RGD:9068941 20220610 RGD protein:increased activity:saliva: PMID:20379753|REF_RGD_ID:152995262 12314580 ADA adenosine deaminase gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:736149 D RGD:9068941 20220610 RGD PMID:27221867|REF_RGD_ID:152995268 12314580 ADA adenosine deaminase gene DOID:0060041 autism spectrum disorder ISO RGD:736149 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12314580 ADA adenosine deaminase gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:736149 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:25741868|PMID:28492532 12314580 ADA adenosine deaminase gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:736149 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive PMID:1346349|PMID:25326637|PMID:25741868|PMID:26376800|PMID:26467025|PMID:2651461|PMID:2773932|PMID:28492532|PMID:3182793|PMID:3475710|PMID:8401541|PMID:8614422|PMID:9758612 12314580 ADA adenosine deaminase gene DOID:10113 trypanosomiasis ISO RGD:2031 D RGD:9068941 20200609 RGD PMID:20809996|REF_RGD_ID:5128861 12314580 ADA adenosine deaminase gene DOID:10247 pleurisy ISO RGD:10081 D RGD:9068941 20200609 RGD PMID:16860713|REF_RGD_ID:5128847 12314580 ADA adenosine deaminase gene DOID:10457 Legionnaires' disease ISO RGD:736149 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9255891|REF_RGD_ID:5128857 12314580 ADA adenosine deaminase gene DOID:10534 stomach cancer ISO RGD:736149 D RGD:9068941 20220616 RGD protein:increased expression:stomach: PMID:8076377|REF_RGD_ID:152995290 12314580 ADA adenosine deaminase gene DOID:10534 stomach cancer treatment ISO RGD:736149 D RGD:9068941 20220610 RGD PMID:4010093|REF_RGD_ID:152995265 12314580 ADA adenosine deaminase gene DOID:106 pleural tuberculosis ISO RGD:736149 D RGD:9068941 20220616 RGD PMID:18357489|REF_RGD_ID:152995288 12314580 ADA adenosine deaminase gene DOID:106 pleural tuberculosis ISO RGD:736149 D RGD:9068941 20220616 RGD protein:increased activity:pleural fluid: PMID:21860532|REF_RGD_ID:152995280 12314580 ADA adenosine deaminase gene DOID:106 pleural tuberculosis ISO RGD:736149 D RGD:9068941 20220616 RGD protein:increased expression:serum: PMID:1689629|REF_RGD_ID:152995292 12314580 ADA adenosine deaminase gene DOID:106 pleural tuberculosis ISO RGD:736149 D RGD:9068941 20220707 RGD protein:increased activity:serum: PMID:1818842|REF_RGD_ID:152998934 12314580 ADA adenosine deaminase gene DOID:10763 hypertension ISO RGD:2031 D RGD:9068941 20200609 RGD PMID:9605386|REF_RGD_ID:1624292 12314580 ADA adenosine deaminase gene DOID:10808 gastric ulcer ISO RGD:736149 D RGD:9068941 20220708 RGD protein:decreased activity:stomach: PMID:20029210|REF_RGD_ID:152998951 12314580 ADA adenosine deaminase gene DOID:11100 Q fever ISO RGD:736149 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9255891|REF_RGD_ID:5128857 12314580 ADA adenosine deaminase gene DOID:11396 pulmonary edema ISO RGD:2031 D RGD:9068941 20200609 RGD associated with Acute Lung Injury PMID:20228181|REF_RGD_ID:5128842 12314580 ADA adenosine deaminase gene DOID:1168 familial hyperlipidemia treatment ISO RGD:2031 D RGD:9068941 20220708 RGD PMID:30679022|REF_RGD_ID:152998957 12314580 ADA adenosine deaminase gene DOID:12849 autistic disorder ISO RGD:736149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11354825 12314580 ADA adenosine deaminase gene DOID:13223 uterine fibroid susceptibility ISO RGD:736149 D RGD:9068941 20220610 RGD DNA:polymorphisms: : PMID:26918693|REF_RGD_ID:152995264 12314580 ADA adenosine deaminase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:736149 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9255891|REF_RGD_ID:5128857 12314580 ADA adenosine deaminase gene DOID:13406 pulmonary sarcoidosis ISO RGD:736149 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:10410539|REF_RGD_ID:5128856 12314580 ADA adenosine deaminase gene DOID:14484 sporotrichosis ISO RGD:2031 D RGD:9068941 20220617 RGD protein:altered activity:serum,lymphocyte PMID:22169893|REF_RGD_ID:152995407 12314580 ADA adenosine deaminase gene DOID:1790 malignant mesothelioma treatment ISO RGD:736149 D RGD:9068941 20220616 RGD PMID:17952507|REF_RGD_ID:152995277 12314580 ADA adenosine deaminase gene DOID:219 colon cancer ISO RGD:736149 D RGD:9068941 20220616 RGD protein:increased activity:colon PMID:15820509|REF_RGD_ID:152995289 12314580 ADA adenosine deaminase gene DOID:219 colon cancer susceptibility ISO RGD:736149 D RGD:9068941 20220610 RGD DNA:polymorphisms,haplotypes: : PMID:20590444|REF_RGD_ID:152995263 12314580 ADA adenosine deaminase gene DOID:2234 focal epilepsy ISO RGD:736149 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12314580 ADA adenosine deaminase gene DOID:2297 leptospirosis ISO RGD:2031 D RGD:9068941 20200609 RGD PMID:21320715|REF_RGD_ID:5128858 12314580 ADA adenosine deaminase gene DOID:2841 asthma susceptibility ISO RGD:736149 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:16754522|REF_RGD_ID:5128848 12314580 ADA adenosine deaminase gene DOID:2876 laryngeal squamous cell carcinoma ISO RGD:736149 D RGD:9068941 20220610 RGD protein:decreased activity:larynx PMID:8138195|REF_RGD_ID:152995273 12314580 ADA adenosine deaminase gene DOID:2957 pulmonary tuberculosis ISO RGD:736149 D RGD:9068941 20200609 RGD protein:increased expression:plasma, respiratory system fluid/secretion PMID:12194640|REF_RGD_ID:5128854 12314580 ADA adenosine deaminase gene DOID:2957 pulmonary tuberculosis ISO RGD:736149 D RGD:9068941 20220610 RGD protein:increased activity:sputum: PMID:19460251|REF_RGD_ID:152995271 12314580 ADA adenosine deaminase gene DOID:2957 pulmonary tuberculosis ISO RGD:736149 D RGD:9068941 20220616 RGD protein:increased activity:blood, pulmonary alveolar duct PMID:2212911|REF_RGD_ID:152995390 12314580 ADA adenosine deaminase gene DOID:319 spinal cord disease ISO RGD:736149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16325979 12314580 ADA adenosine deaminase gene DOID:3908 lung non-small cell carcinoma ISO RGD:736149 D RGD:9068941 20220616 RGD protein:decreased expression:lymphocyte,erythrocyte: PMID:31375946|REF_RGD_ID:152995295 12314580 ADA adenosine deaminase gene DOID:4195 hyperglycemia ISO RGD:2031 D RGD:9068941 20200609 RGD protein:decreased expression:mesangial cell PMID:12472193|REF_RGD_ID:1624290 12314580 ADA adenosine deaminase gene DOID:5810 adenosine deaminase deficiency ISO RGD:736149 D RGD:7240710 20180130 OMIM 12314580 ADA adenosine deaminase gene DOID:5810 adenosine deaminase deficiency ISO RGD:736149 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency PMID:10200056|PMID:11067872|PMID:11160213|PMID:11313286|PMID:11354825|PMID:11807006|PMID:1284479|PMID:1346349|PMID:14499267|PMID:16199547|PMID:16276484|PMID:1680289|PMID:16825284|PMID:1696926|PMID:17001642|PMID:17181544|PMID:17185467|PMID:17576681|PMID:18952502|PMID:19179314|PMID:19665771|PMID:1974554|PMID:19830125|PMID:20544538|PMID:21228398|PMID:21410451|PMID:21624848|PMID:21664875|PMID:2166947|PMID:21865538|PMID:22409989|PMID:22447032|PMID:22764473|PMID:22968453|PMID:23260757|PMID:23348723|PMID:24033266|PMID:25326637|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25875700|PMID:26255240|PMID:26376800|PMID:2651461|PMID:27095930|PMID:27129325|PMID:27484032|PMID:2758612|PMID:2773932|PMID:2783588|PMID:28266921|PMID:28492532|PMID:29744787|PMID:3007108|PMID:30290665|PMID:31031743|PMID:31319225|PMID:31589898|PMID:31681265|PMID:31781678|PMID:3182793|PMID:31858364|PMID:32135276|PMID:32245326|PMID:32307643|PMID:32445296|PMID:3366897|PMID:3475710|PMID:3684597|PMID:3839802|PMID:46025|PMID:498598|PMID:6208479|PMID:7554472|PMID:7599635|PMID:8023852|PMID:8031011|PMID:8051429|PMID:8120281|PMID:8178821|PMID:8227344|PMID:8258146|PMID:8299233|PMID:8401541|PMID:8589684|PMID:8614422|PMID:8673127|PMID:9108404|PMID:9225964|PMID:9361033|PMID:9414266|PMID:9536098|PMID:9616253|PMID:9758612|PMID:980079|PMID:9806422 12314580 ADA adenosine deaminase gene DOID:5810 adenosine deaminase deficiency ISO RGD:736149 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency PMID:10200056|PMID:11067872|PMID:11160213|PMID:11313286|PMID:11354825|PMID:11807006|PMID:1284479|PMID:1346349|PMID:14499267|PMID:16199547|PMID:16276484|PMID:1680289|PMID:16825284|PMID:1696926|PMID:17001642|PMID:17181544|PMID:17185467|PMID:17576681|PMID:18952502|PMID:19179314|PMID:19665771|PMID:1974554|PMID:19830125|PMID:20544538|PMID:21228398|PMID:21410451|PMID:21624848|PMID:21664875|PMID:2166947|PMID:21865538|PMID:22409989|PMID:22447032|PMID:22764473|PMID:22968453|PMID:23260757|PMID:23348723|PMID:24033266|PMID:25326637|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25875700|PMID:26255240|PMID:26376800|PMID:26467025|PMID:2651461|PMID:27095930|PMID:27129325|PMID:27484032|PMID:2758612|PMID:2773932|PMID:2783588|PMID:28266921|PMID:28492532|PMID:29744787|PMID:3007108|PMID:30290665|PMID:31031743|PMID:31319225|PMID:31589898|PMID:31681265|PMID:31781678|PMID:3182793|PMID:31858364|PMID:32135276|PMID:32245326|PMID:32307643|PMID:32445296|PMID:3366897|PMID:3475710|PMID:3684597|PMID:3839802|PMID:46025|PMID:498598|PMID:6208479|PMID:7554472|PMID:7599635|PMID:8023852|PMID:8031011|PMID:8051429|PMID:8120281|PMID:8178821|PMID:8227344|PMID:8258146|PMID:8299233|PMID:8401541|PMID:8433873|PMID:8589684|PMID:8614422|PMID:8673127|PMID:9108404|PMID:9225964|PMID:9361033|PMID:9414266|PMID:9536098|PMID:9616253|PMID:9758612|PMID:980079|PMID:9806422 12314580 ADA adenosine deaminase gene DOID:5810 adenosine deaminase deficiency ISO RGD:736149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency PMID:10200056|PMID:11067872|PMID:11160213|PMID:11313286|PMID:11354825|PMID:11807006|PMID:11901152|PMID:1284479|PMID:1346349|PMID:14499267|PMID:16199547|PMID:16276484|PMID:1680289|PMID:16825284|PMID:1696926|PMID:17001642|PMID:17181544|PMID:17185467|PMID:17576681|PMID:18952502|PMID:19179314|PMID:19665771|PMID:1974554|PMID:19830125|PMID:20544538|PMID:21228398|PMID:21410451|PMID:21624848|PMID:21664875|PMID:2166947|PMID:21865538|PMID:22409989|PMID:22447032|PMID:22764473|PMID:22968453|PMID:23260757|PMID:23348723|PMID:24033266|PMID:25326637|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25875700|PMID:25954555|PMID:26255240|PMID:26376800|PMID:26467025|PMID:2651461|PMID:27095930|PMID:27129325|PMID:27484032|PMID:2758612|PMID:2773932|PMID:2783588|PMID:27872624|PMID:28266921|PMID:28492532|PMID:29744787|PMID:3007108|PMID:30290665|PMID:30778343|PMID:30858051|PMID:31031743|PMID:31319225|PMID:31589898|PMID:31681265|PMID:31781678|PMID:3182793|PMID:31858364|PMID:32135276|PMID:32245326|PMID:32307643|PMID:32445296|PMID:32888943|PMID:33628209|PMID:3366897|PMID:3475710|PMID:3684597|PMID:3839802|PMID:46025|PMID:498598|PMID:6208479|PMID:7554472|PMID:7599635|PMID:7691348|PMID:8023852|PMID:8031011|PMID:8051429|PMID:8120281|PMID:8178821|PMID:8227344|PMID:8258146|PMID:8299233|PMID:8401541|PMID:8433873|PMID:8589684|PMID:8614422|PMID:8673127|PMID:9108404|PMID:9225964|PMID:9361033|PMID:9414266|PMID:9536098|PMID:9616253|PMID:9758612|PMID:980079|PMID:9806422 12314580 ADA adenosine deaminase gene DOID:612 primary immunodeficiency disease ISO RGD:10081 D RGD:9068941 20200609 RGD PMID:9478961|REF_RGD_ID:1300251 12314580 ADA adenosine deaminase gene DOID:614 lymphopenia ISO RGD:10081 D RGD:9068941 20200609 RGD PMID:9478961|REF_RGD_ID:1300251 12314580 ADA adenosine deaminase gene DOID:627 severe combined immunodeficiency ISO RGD:736149 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:1284479|PMID:14499267|PMID:16199547|PMID:16825284|PMID:17001642|PMID:17576681|PMID:18952502|PMID:19179314|PMID:1974554|PMID:19830125|PMID:21664875|PMID:2166947|PMID:21865538|PMID:22409989|PMID:22447032|PMID:22764473|PMID:22968453|PMID:23348723|PMID:24033266|PMID:25525159|PMID:25741868|PMID:25875700|PMID:26255240|PMID:26376800|PMID:2651461|PMID:27129325|PMID:2758612|PMID:2783588|PMID:28492532|PMID:29744787|PMID:30290665|PMID:31031743|PMID:31681265|PMID:3182793|PMID:31858364|PMID:32245326|PMID:32307643|PMID:3839802|PMID:498598|PMID:6208479|PMID:7554472|PMID:7599635|PMID:7691348|PMID:8023852|PMID:8051429|PMID:8120281|PMID:8178821|PMID:8227344|PMID:8589684|PMID:8673127|PMID:9225964|PMID:9361033|PMID:9414266|PMID:9536098|PMID:9616253|PMID:9758612|PMID:980079|PMID:9806422 12314580 ADA adenosine deaminase gene DOID:8283 peritonitis ISO RGD:2031 D RGD:9068941 20200609 RGD protein:increased expression:peritoneal fluid PMID:15969953|REF_RGD_ID:1624309 12314580 ADA adenosine deaminase gene DOID:8283 peritonitis ISO RGD:2031 D RGD:9068941 20220617 RGD protein:decreased activity:serum PMID:15373900|REF_RGD_ID:152995406 12314580 ADA adenosine deaminase gene DOID:850 lung disease ISO RGD:2031 D RGD:9068941 20200609 RGD associated with Reperfusion Injury;protein:increased expression:lung PMID:18561952|REF_RGD_ID:5128845 12314580 ADA adenosine deaminase gene DOID:8618 oral cavity cancer ISO RGD:736149 D RGD:9068941 20220616 RGD protein:decreased activity:saliva: PMID:16120121|REF_RGD_ID:152995281 12314580 ADA adenosine deaminase gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:736149 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12314580 ADA adenosine deaminase gene DOID:9000528 Coronary Disease ISO RGD:736149 D RGD:9068941 20200609 RGD protein:increased expression:leukocyte PMID:17259686|REF_RGD_ID:1624286 12314580 ADA adenosine deaminase gene DOID:9001191 Cadmium Poisoning treatment ISO RGD:2031 D RGD:9068941 20220617 RGD PMID:27491636|REF_RGD_ID:152995409 12314580 ADA adenosine deaminase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12314580 ADA adenosine deaminase gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2031 D RGD:9068941 20220616 RGD protein:increased activity:brain: PMID:25720338|REF_RGD_ID:152995398 12314580 ADA adenosine deaminase gene DOID:9005172 Lung Neoplasms ISO RGD:736149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2305558 12314580 ADA adenosine deaminase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10081 D RGD:9068941 20200609 RGD PMID:9784839|REF_RGD_ID:2313540 12314580 ADA adenosine deaminase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2031 D RGD:9068941 20200609 RGD protein:increased expression:platelet PMID:19166862|REF_RGD_ID:2313538 12314580 ADA adenosine deaminase gene DOID:9005883 Pleural Effusion treatment ISO RGD:736149 D RGD:9068941 20220610 RGD PMID:25547995|REF_RGD_ID:152995274 12314580 ADA adenosine deaminase gene DOID:9006599 Hypertriglyceridemia treatment ISO RGD:2031 D RGD:9068941 20220616 RGD PMID:30280312|REF_RGD_ID:152995395 12314580 ADA adenosine deaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2031 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:21161045|REF_RGD_ID:5128859 12314580 ADA adenosine deaminase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2031 D RGD:9068941 20200609 RGD protein:increased expression PMID:16641873|REF_RGD_ID:1624305 12314580 ADA adenosine deaminase gene DOID:9007871 Malignant Pleural Effusions ISO RGD:736149 D RGD:9068941 20220616 RGD protein:decreased expression:serum: PMID:1689629|REF_RGD_ID:152995292 12314580 ADA adenosine deaminase gene DOID:9007871 Malignant Pleural Effusions ISO RGD:736149 D RGD:9068941 20220707 RGD protein:increased activity:serum: PMID:1818842|REF_RGD_ID:152998934 12314580 ADA adenosine deaminase gene DOID:9007871 Malignant Pleural Effusions disease_progression ISO RGD:736149 D RGD:9068941 20220610 RGD PMID:27300446|REF_RGD_ID:152995272 12314580 ADA adenosine deaminase gene DOID:9009039 Hyperemia ISO RGD:736149 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2502780|PMID:7949234 12314580 ADA adenosine deaminase gene DOID:9256 colorectal cancer disease_progression ISO RGD:736149 D RGD:9068941 20220616 RGD PMID:11114712|REF_RGD_ID:152995282 12314580 ADA adenosine deaminase gene DOID:9351 diabetes mellitus treatment ISO RGD:2031 D RGD:9068941 20220708 RGD PMID:25955284|REF_RGD_ID:152998952 12314580 ADA adenosine deaminase gene DOID:9352 type 2 diabetes mellitus ISO RGD:736149 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15168879|REF_RGD_ID:2313539 12314580 ADA adenosine deaminase gene DOID:9970 obesity ISO RGD:736149 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16501670|REF_RGD_ID:1624289 12314617 UBE2L3 ubiquitin conjugating enzyme E2 L3 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1318085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 12314617 UBE2L3 ubiquitin conjugating enzyme E2 L3 gene DOID:11198 DiGeorge syndrome ISO RGD:1318085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 12314617 UBE2L3 ubiquitin conjugating enzyme E2 L3 gene DOID:630 genetic disease ISO RGD:1318085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314617 UBE2L3 ubiquitin conjugating enzyme E2 L3 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1318085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24162738 12314628 HEBP1 heme binding protein 1 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1312101 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12314628 HEBP1 heme binding protein 1 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1312101 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12314628 HEBP1 heme binding protein 1 gene DOID:0080600 COVID-19 ISO RGD:1312101 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12314628 HEBP1 heme binding protein 1 gene DOID:630 genetic disease ISO RGD:1312101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314636 SH3RF2 SH3 domain containing ring finger 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1318169 D RGD:9068941 20220825 MouseDO 12314636 SH3RF2 SH3 domain containing ring finger 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12314636 SH3RF2 SH3 domain containing ring finger 2 gene DOID:630 genetic disease ISO RGD:1318168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314636 SH3RF2 SH3 domain containing ring finger 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12314636 SH3RF2 SH3 domain containing ring finger 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12314655 NLN neurolysin gene DOID:0080600 COVID-19 ISO RGD:731408 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12314655 NLN neurolysin gene DOID:630 genetic disease ISO RGD:731408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314655 NLN neurolysin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12314679 RPP40 ribonuclease P/MRP subunit p40 gene DOID:630 genetic disease ISO RGD:1321008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314691 GAD1 glutamate decarboxylase 1 gene DOID:0050562 West syndrome ISO RGD:730853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile spasms PMID:22662185|PMID:28492532 12314691 GAD1 glutamate decarboxylase 1 gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:730853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitamin B6-dependent seizures PMID:25741868 12314691 GAD1 glutamate decarboxylase 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:730853 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12314691 GAD1 glutamate decarboxylase 1 gene DOID:0112223 developmental and epileptic encephalopathy 89 ISO RGD:730853 D RGD:7240710 20201223 OMIM 12314691 GAD1 glutamate decarboxylase 1 gene DOID:0112223 developmental and epileptic encephalopathy 89 ISO RGD:730853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 89 PMID:25741868|PMID:28492532|PMID:32282878|PMID:32705143|PMID:33146701 12314691 GAD1 glutamate decarboxylase 1 gene DOID:10763 hypertension ISO RGD:730853 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32165127 12314691 GAD1 glutamate decarboxylase 1 gene DOID:10970 spastic quadriplegia ISO RGD:730853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy spastic quadriplegic 12314691 GAD1 glutamate decarboxylase 1 gene DOID:12700 hyperprolactinemia ISO RGD:730853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7138674 12314691 GAD1 glutamate decarboxylase 1 gene DOID:12849 autistic disorder ISO RGD:730853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17918742 12314691 GAD1 glutamate decarboxylase 1 gene DOID:1470 major depressive disorder ISO RGD:730853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15560956 12314691 GAD1 glutamate decarboxylase 1 gene DOID:2030 anxiety disorder susceptibility ISO RGD:730853 D RGD:9068941 20200609 RGD DNA:snp(s) PMID:22328461|REF_RGD_ID:6480264 12314691 GAD1 glutamate decarboxylase 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:730853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28492532|PMID:28832565 12314691 GAD1 glutamate decarboxylase 1 gene DOID:3312 bipolar disorder ISO RGD:730853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15560956 12314691 GAD1 glutamate decarboxylase 1 gene DOID:3312 bipolar disorder ISO RGD:730853 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex layers 2-5 PMID:18534564|REF_RGD_ID:6480428 12314691 GAD1 glutamate decarboxylase 1 gene DOID:5419 schizophrenia ISO RGD:730853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15560956|PMID:17942719|PMID:18923069|PMID:19110320 12314691 GAD1 glutamate decarboxylase 1 gene DOID:5419 schizophrenia ISO RGD:730853 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex layers 2-5 PMID:18534564|REF_RGD_ID:6480428 12314691 GAD1 glutamate decarboxylase 1 gene DOID:5419 schizophrenia ISO RGD:730853 D RGD:9068941 20200609 RGD protein:increased expression:posterior subiculum, parahippocampal gyrus PMID:21250934|REF_RGD_ID:6480427 12314691 GAD1 glutamate decarboxylase 1 gene DOID:5419 schizophrenia no_association ISO RGD:730853 D RGD:9068941 20200609 RGD DNA:snp(s)::Japanese population PMID:17303389|REF_RGD_ID:6480430 12314691 GAD1 glutamate decarboxylase 1 gene DOID:630 genetic disease ISO RGD:730853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12314691 GAD1 glutamate decarboxylase 1 gene DOID:9004548 Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities ISO RGD:730853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities PMID:16199547|PMID:17576681|PMID:22662185|PMID:25741868|PMID:28492532|PMID:28832565|PMID:32282878|PMID:32705143|PMID:33634263|PMID:9084927|PMID:9536098 12314691 GAD1 glutamate decarboxylase 1 gene DOID:9004798 Drug Resistant Epilepsy ISO RGD:730853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intractable epilepsy PMID:25741868 12314691 GAD1 glutamate decarboxylase 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 12314691 GAD1 glutamate decarboxylase 1 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:730853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9767399 12314691 GAD1 glutamate decarboxylase 1 gene DOID:9256 colorectal cancer severity ISO RGD:730853 D RGD:9068941 20220217 RGD mRNA:increased expression:colon (human) PMID:26549033|REF_RGD_ID:151356759 12314691 GAD1 glutamate decarboxylase 1 gene DOID:9351 diabetes mellitus ISO RGD:2652 D RGD:9068941 20200609 RGD PMID:1924335|REF_RGD_ID:728511 12314709 PTPRN protein tyrosine phosphatase receptor type N gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:734153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12314709 PTPRN protein tyrosine phosphatase receptor type N gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:734153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12314709 PTPRN protein tyrosine phosphatase receptor type N gene DOID:0111214 distal spinal muscular atrophy type 5 ISO RGD:734153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Young adult-onset distal hereditary motor neuropathy PMID:28492532 12314709 PTPRN protein tyrosine phosphatase receptor type N gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:734153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12314709 PTPRN protein tyrosine phosphatase receptor type N gene DOID:1148 polydactyly ISO RGD:734153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 12314709 PTPRN protein tyrosine phosphatase receptor type N gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:734153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12314709 PTPRN protein tyrosine phosphatase receptor type N gene DOID:630 genetic disease ISO RGD:734153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314709 PTPRN protein tyrosine phosphatase receptor type N gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12314709 PTPRN protein tyrosine phosphatase receptor type N gene DOID:9005643 Experimental Diabetes Mellitus severity ISO RGD:734154 D RGD:9068941 20200609 RGD PMID:19513530|REF_RGD_ID:2313594 12314709 PTPRN protein tyrosine phosphatase receptor type N gene DOID:9744 type 1 diabetes mellitus ISO RGD:620777 D RGD:9068941 20200609 RGD PMID:7568143|REF_RGD_ID:729710 12314709 PTPRN protein tyrosine phosphatase receptor type N gene DOID:9744 type 1 diabetes mellitus ISO RGD:734153 D RGD:9068941 20200609 RGD PMID:19741189|REF_RGD_ID:2313289 12314736 NIPA2 NIPA magnesium transporter 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21187176|PMID:21844811|PMID:23044707|PMID:23495136|PMID:25255310|PMID:25741868|PMID:27569545 12314736 NIPA2 NIPA magnesium transporter 2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1348761 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:31690835 12314736 NIPA2 NIPA magnesium transporter 2 gene DOID:0110811 hereditary spastic paraplegia 6 ISO RGD:1348761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 PMID:17268193|PMID:23032108|PMID:25689425|PMID:28492532 12314736 NIPA2 NIPA magnesium transporter 2 gene DOID:1059 intellectual disability ISO RGD:1348761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12314736 NIPA2 NIPA magnesium transporter 2 gene DOID:12849 autistic disorder ISO RGD:1348761 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 12314736 NIPA2 NIPA magnesium transporter 2 gene DOID:1932 Angelman syndrome ISO RGD:1348761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome 12314736 NIPA2 NIPA magnesium transporter 2 gene DOID:5419 schizophrenia ISO RGD:1348761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12314736 NIPA2 NIPA magnesium transporter 2 gene DOID:630 genetic disease ISO RGD:1348761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314736 NIPA2 NIPA magnesium transporter 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 12314751 DHRS7C dehydrogenase/reductase 7C gene DOID:630 genetic disease ISO RGD:1602060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314764 SCP2 sterol carrier protein 2 gene DOID:10003 sensorineural hearing loss ISO RGD:733061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:28492532|PMID:33713422 12314764 SCP2 sterol carrier protein 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:733061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy variant PMID:25741868 12314764 SCP2 sterol carrier protein 2 gene DOID:1389 polyneuropathy ISO RGD:733061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16685654 12314764 SCP2 sterol carrier protein 2 gene DOID:543 dystonia ISO RGD:733061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16685654 12314764 SCP2 sterol carrier protein 2 gene DOID:630 genetic disease ISO RGD:733061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12314764 SCP2 sterol carrier protein 2 gene DOID:9002704 Leukoencephalopathies ISO RGD:733061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16685654 12314764 SCP2 sterol carrier protein 2 gene DOID:9004065 Leukoencephalopathy with Dystonia and Motor Neuropathy ISO RGD:733061 D RGD:7240710 20180130 OMIM 12314764 SCP2 sterol carrier protein 2 gene DOID:9004065 Leukoencephalopathy with Dystonia and Motor Neuropathy ISO RGD:733061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sterol carrier protein 2 deficiency PMID:16199547|PMID:16685654|PMID:25741868|PMID:26497993|PMID:28492532|PMID:33098801 12314764 SCP2 sterol carrier protein 2 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3642 D RGD:9068941 20200609 RGD PMID:7628371|REF_RGD_ID:9850252 12314764 SCP2 sterol carrier protein 2 gene DOID:905 Zellweger syndrome ISO RGD:733061 D RGD:9068941 20200609 RGD PMID:3555624|REF_RGD_ID:13782196 12314784 TMED5 transmembrane p24 trafficking protein 5 gene DOID:630 genetic disease ISO RGD:1349482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314798 IL18RAP interleukin 18 receptor accessory protein gene DOID:0050589 inflammatory bowel disease ISO RGD:1315691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983784 12314798 IL18RAP interleukin 18 receptor accessory protein gene DOID:0080685 aortic dissection ISO RGD:1315691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:34409081 12314798 IL18RAP interleukin 18 receptor accessory protein gene DOID:630 genetic disease ISO RGD:1315691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314798 IL18RAP interleukin 18 receptor accessory protein gene DOID:8577 ulcerative colitis ISO RGD:1315691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 12314798 IL18RAP interleukin 18 receptor accessory protein gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1315691 D RGD:9068941 20200609 RGD DNA:SNP: :rs1420106 (human) PMID:18774397|REF_RGD_ID:5024946 12314798 IL18RAP interleukin 18 receptor accessory protein gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1315692 D RGD:9068941 20200609 RGD PMID:19164288|REF_RGD_ID:4889578 12314822 UFSP2 UFM1 specific peptidase 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1605068 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome PMID:25741868|PMID:28492532|PMID:33473208 12314822 UFSP2 UFM1 specific peptidase 2 gene DOID:0111367 Beukes hip dysplasia ISO RGD:1605068 D RGD:7240710 20180130 OMIM 12314822 UFSP2 UFM1 specific peptidase 2 gene DOID:0111367 Beukes hip dysplasia ISO RGD:1605068 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hip dysplasia, Beukes type PMID:21228277|PMID:2389793|PMID:25741868|PMID:26428751|PMID:28492532|PMID:28892125 12314822 UFSP2 UFM1 specific peptidase 2 gene DOID:1059 intellectual disability ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:33473208 12314822 UFSP2 UFM1 specific peptidase 2 gene DOID:10907 microcephaly ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:33473208 12314822 UFSP2 UFM1 specific peptidase 2 gene DOID:12849 autistic disorder ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12314822 UFSP2 UFM1 specific peptidase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 12314822 UFSP2 UFM1 specific peptidase 2 gene DOID:14784 olivopontocerebellar atrophy ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia PMID:25741868|PMID:28492532|PMID:33473208 12314822 UFSP2 UFM1 specific peptidase 2 gene DOID:1826 epilepsy ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868|PMID:28492532|PMID:33473208 12314822 UFSP2 UFM1 specific peptidase 2 gene DOID:2234 focal epilepsy ISO RGD:1605068 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868|PMID:28492532|PMID:33473208 12314822 UFSP2 UFM1 specific peptidase 2 gene DOID:630 genetic disease ISO RGD:1605068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314822 UFSP2 UFM1 specific peptidase 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:28492532|PMID:33473208 12314822 UFSP2 UFM1 specific peptidase 2 gene DOID:9002016 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE ISO RGD:1605068 D RGD:7240710 20190724 OMIM 12314822 UFSP2 UFM1 specific peptidase 2 gene DOID:9002016 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE ISO RGD:1605068 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, di rocco type PMID:21228277|PMID:25741868|PMID:28892125|PMID:32755715 12314822 UFSP2 UFM1 specific peptidase 2 gene DOID:9003512 Developmental and Epileptic Encephalopathy 106 ISO RGD:1605068 D RGD:7240710 20220921 OMIM 12314822 UFSP2 UFM1 specific peptidase 2 gene DOID:9003512 Developmental and Epileptic Encephalopathy 106 ISO RGD:1605068 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 106 PMID:25741868|PMID:28492532|PMID:33473208 12314822 UFSP2 UFM1 specific peptidase 2 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 12314822 UFSP2 UFM1 specific peptidase 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28492532|PMID:33473208 12314822 UFSP2 UFM1 specific peptidase 2 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1605068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 12314838 CDR2L cerebellar degeneration related protein 2 like gene DOID:630 genetic disease ISO RGD:1602123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314859 APC2 APC regulator of WNT signaling pathway 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1317926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18716850 12314859 APC2 APC regulator of WNT signaling pathway 2 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1317926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 12314859 APC2 APC regulator of WNT signaling pathway 2 gene DOID:0081218 autosomal recessive intellectual developmental disorder 74 ISO RGD:1317926 D RGD:7240710 20220831 OMIM 12314859 APC2 APC regulator of WNT signaling pathway 2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1317926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12314859 APC2 APC regulator of WNT signaling pathway 2 gene DOID:0112104 Sotos syndrome 3 ISO RGD:1317926 D RGD:7240710 20190315 OMIM 12314859 APC2 APC regulator of WNT signaling pathway 2 gene DOID:0112104 Sotos syndrome 3 ISO RGD:1317926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sotos syndrome 3 PMID:25741868|PMID:25753423|PMID:28492532|PMID:33161245 12314859 APC2 APC regulator of WNT signaling pathway 2 gene DOID:1826 epilepsy ISO RGD:1317926 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12314859 APC2 APC regulator of WNT signaling pathway 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:1317926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12314859 APC2 APC regulator of WNT signaling pathway 2 gene DOID:630 genetic disease ISO RGD:1317926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12314859 APC2 APC regulator of WNT signaling pathway 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12314859 APC2 APC regulator of WNT signaling pathway 2 gene DOID:9007534 Complex Cortical Dysplasia with Other Brain Malformations 10 ISO RGD:1317926 D RGD:7240710 20191211 OMIM 12314859 APC2 APC regulator of WNT signaling pathway 2 gene DOID:9007534 Complex Cortical Dysplasia with Other Brain Malformations 10 ISO RGD:1317926 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 10 PMID:25741868|PMID:28492532|PMID:31585108 12314859 APC2 APC regulator of WNT signaling pathway 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1317926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:18716850|PMID:21278247 12314859 APC2 APC regulator of WNT signaling pathway 2 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1317926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 12314859 APC2 APC regulator of WNT signaling pathway 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1317926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 12314876 OR52A1 olfactory receptor family 52 subfamily A member 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1342762 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12314876 OR52A1 olfactory receptor family 52 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1342762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314879 BCL7A BAF chromatin remodeling complex subunit BCL7A gene DOID:630 genetic disease ISO RGD:1319851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314894 ARID3B AT-rich interaction domain 3B gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1314897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12314894 ARID3B AT-rich interaction domain 3B gene DOID:2717 Bloom syndrome ISO RGD:1314897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12314894 ARID3B AT-rich interaction domain 3B gene DOID:5419 schizophrenia ISO RGD:1314897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12314894 ARID3B AT-rich interaction domain 3B gene DOID:630 genetic disease ISO RGD:1314897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314894 ARID3B AT-rich interaction domain 3B gene DOID:9256 colorectal cancer ISO RGD:1314897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12314910 NUP54 nucleoporin 54 gene DOID:630 genetic disease ISO RGD:732578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314910 NUP54 nucleoporin 54 gene DOID:891 progressive myoclonus epilepsy ISO RGD:732578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 12314910 NUP54 nucleoporin 54 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:732578 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12314927 ELOVL6 ELOVL fatty acid elongase 6 gene DOID:6000 congestive heart failure ISO RGD:1345221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 12314927 ELOVL6 ELOVL fatty acid elongase 6 gene DOID:630 genetic disease ISO RGD:1345221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314927 ELOVL6 ELOVL fatty acid elongase 6 gene DOID:9970 obesity ISO RGD:1332205 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:31988048|REF_RGD_ID:21403676 12314939 TRIM10 tripartite motif containing 10 gene DOID:11372 megacolon ISO RGD:1349784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12314939 TRIM10 tripartite motif containing 10 gene DOID:2772 irritant dermatitis ISO RGD:1349784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 12314939 TRIM10 tripartite motif containing 10 gene DOID:630 genetic disease ISO RGD:1349784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314951 EMP2 epithelial membrane protein 2 gene DOID:0080386 nephrotic syndrome type 10 ISO RGD:1344065 D RGD:7240710 20180130 OMIM 12314951 EMP2 epithelial membrane protein 2 gene DOID:0080386 nephrotic syndrome type 10 ISO RGD:1344065 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 10 PMID:24814193|PMID:25741868|PMID:28492532 12314951 EMP2 epithelial membrane protein 2 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1344065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 12314951 EMP2 epithelial membrane protein 2 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1344065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 12314951 EMP2 epithelial membrane protein 2 gene DOID:3891 placental insufficiency ISO RGD:1552846 D RGD:9068941 20220825 MouseDO 12314951 EMP2 epithelial membrane protein 2 gene DOID:5812 MHC class II deficiency ISO RGD:1344065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:26271388|PMID:28492532|PMID:8402893|PMID:9099848 12314951 EMP2 epithelial membrane protein 2 gene DOID:630 genetic disease ISO RGD:1344065 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12314963 SATL1 spermidine/spermine N1-acetyl transferase like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12314963 SATL1 spermidine/spermine N1-acetyl transferase like 1 gene DOID:12849 autistic disorder ISO RGD:1343887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12314963 SATL1 spermidine/spermine N1-acetyl transferase like 1 gene DOID:630 genetic disease ISO RGD:1343887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314984 SLFNL1 schlafen like 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12314984 SLFNL1 schlafen like 1 gene DOID:0111938 immunodeficiency 24 ISO RGD:1603541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency PMID:28492532 12314984 SLFNL1 schlafen like 1 gene DOID:630 genetic disease ISO RGD:1603541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12314998 RIF1 replication timing regulatory factor 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1352449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:25741868|PMID:28492532 12314998 RIF1 replication timing regulatory factor 1 gene DOID:0070336 arthrogryposis multiplex congenita-6 ISO RGD:1352449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12314998 RIF1 replication timing regulatory factor 1 gene DOID:0110928 nemaline myopathy 2 ISO RGD:1352449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:10051637|PMID:10931867|PMID:11309420|PMID:11851340|PMID:11994971|PMID:12207938|PMID:15266303|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18414213|PMID:19339519|PMID:19805734|PMID:21148390|PMID:21520333|PMID:22941678|PMID:23443021|PMID:23726790|PMID:24033266|PMID:24046450|PMID:24056153|PMID:24725366|PMID:24972929|PMID:25110572|PMID:25205138|PMID:25296583|PMID:25332755|PMID:25356970|PMID:25525159|PMID:25589042|PMID:25589043|PMID:25740301|PMID:25741868|PMID:26019235|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26562614|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27066551|PMID:27105866|PMID:27357428|PMID:27884173|PMID:28132693|PMID:28492532|PMID:29246625|PMID:29382405|PMID:29389947|PMID:29669168|PMID:29689380|PMID:29754767|PMID:29947179|PMID:29961767|PMID:30057997|PMID:30265400|PMID:30467404|PMID:30517146|PMID:30950222|PMID:31230720|PMID:31256874|PMID:31965297|PMID:32222963|PMID:33442022|PMID:34440373|PMID:7739042|PMID:9536098 12314998 RIF1 replication timing regulatory factor 1 gene DOID:3191 nemaline myopathy ISO RGD:1352449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Recessive | ClinVar Annotator: match by term: Nemaline myopathy PMID:12207938|PMID:15336686|PMID:16199547|PMID:16917880|PMID:19805734|PMID:23443021|PMID:24056153|PMID:25205138|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26019235|PMID:26403434|PMID:26467025|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27105866|PMID:28132693|PMID:28492532|PMID:29246625|PMID:29389947|PMID:29669168|PMID:30057997|PMID:30467404|PMID:31230720|PMID:32222963|PMID:33442022 12314998 RIF1 replication timing regulatory factor 1 gene DOID:574 peripheral nervous system disease ISO RGD:1352449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 12314998 RIF1 replication timing regulatory factor 1 gene DOID:630 genetic disease ISO RGD:1352449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19339519|PMID:23726790|PMID:24033266|PMID:24725366|PMID:25205138|PMID:25356970|PMID:25741868|PMID:26467025|PMID:26562614|PMID:28492532|PMID:32222963|PMID:9536098 12314998 RIF1 replication timing regulatory factor 1 gene DOID:870 neuropathy ISO RGD:1352449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 12314998 RIF1 replication timing regulatory factor 1 gene DOID:9000123 Deglutition Disorders ISO RGD:1352449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysphagia PMID:24056153|PMID:25205138|PMID:25741868|PMID:28492532 12314998 RIF1 replication timing regulatory factor 1 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1352449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:25741868|PMID:28492532 12314998 RIF1 replication timing regulatory factor 1 gene DOID:9884 muscular dystrophy ISO RGD:1352449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:25205138|PMID:25741868|PMID:28492532 12315042 TMEM87B transmembrane protein 87B gene DOID:630 genetic disease ISO RGD:1605922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12315070 BRCC3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1344323 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12315070 BRCC3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:0050476 Barth syndrome ISO RGD:1344323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12315070 BRCC3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:0050800 creatine transporter deficiency ISO RGD:1344323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12315070 BRCC3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1344323 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12315070 BRCC3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1344323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12315070 BRCC3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1344323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12315070 BRCC3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:12849 autistic disorder ISO RGD:1344323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12315070 BRCC3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:13628 favism ISO RGD:1344323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12315070 BRCC3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1344323 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12315070 BRCC3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:607 paraplegia ISO RGD:1344323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12315070 BRCC3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:9000888 Pregnancy in Diabetics ISO RGD:1557359 D RGD:9068941 20200609 RGD mRNA:increased expression:embryo: PMID:18323671|REF_RGD_ID:9586066 12315070 BRCC3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:9002720 Splenomegaly ISO RGD:1344323 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12315070 BRCC3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:9005463 Occupational Diseases ISO RGD:1344323 D RGD:9068941 20200609 RGD PMID:24973494|REF_RGD_ID:9586067 12315070 BRCC3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 12315095 HES7 hes family bHLH transcription factor 7 gene DOID:0050336 hypophosphatemia ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypophosphatemia PMID:25741868 12315095 HES7 hes family bHLH transcription factor 7 gene DOID:0050568 spondylocostal dysostosis ISO RGD:1314232 D RGD:9068941 20220825 MouseDO 12315095 HES7 hes family bHLH transcription factor 7 gene DOID:0060249 scoliosis ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868 12315095 HES7 hes family bHLH transcription factor 7 gene DOID:0080006 bone development disease ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 12315095 HES7 hes family bHLH transcription factor 7 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1314231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12315095 HES7 hes family bHLH transcription factor 7 gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1314231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 12315095 HES7 hes family bHLH transcription factor 7 gene DOID:0112362 spondylocostal dysostosis 2 ISO RGD:1314231 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive PMID:18775957 12315095 HES7 hes family bHLH transcription factor 7 gene DOID:0112364 spondylocostal dysostosis 4 ISO RGD:1314231 D RGD:7240710 20180130 OMIM 12315095 HES7 hes family bHLH transcription factor 7 gene DOID:0112364 spondylocostal dysostosis 4 ISO RGD:1314231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 4, autosomal recessive PMID:18775957|PMID:20087400|PMID:23897666|PMID:25741868|PMID:28492532 12315095 HES7 hes family bHLH transcription factor 7 gene DOID:1059 intellectual disability ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 12315095 HES7 hes family bHLH transcription factor 7 gene DOID:10907 microcephaly ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Progressive microcephaly PMID:25741868 12315095 HES7 hes family bHLH transcription factor 7 gene DOID:11502 mitral valve insufficiency ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitral regurgitation PMID:25741868 12315095 HES7 hes family bHLH transcription factor 7 gene DOID:12177 common variable immunodeficiency ISO RGD:1314231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12315095 HES7 hes family bHLH transcription factor 7 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1314231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12315095 HES7 hes family bHLH transcription factor 7 gene DOID:2340 craniosynostosis ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brachycephaly PMID:25741868 12315095 HES7 hes family bHLH transcription factor 7 gene DOID:2729 dyskeratosis congenita ISO RGD:1314231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12315095 HES7 hes family bHLH transcription factor 7 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1314231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12315095 HES7 hes family bHLH transcription factor 7 gene DOID:630 genetic disease ISO RGD:1314231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12315095 HES7 hes family bHLH transcription factor 7 gene DOID:9003430 Sprengel Deformity ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sprengel's shoulder PMID:25741868 12315095 HES7 hes family bHLH transcription factor 7 gene DOID:9006006 Spondylocostal Dysostosis, Autosomal Recessive IAGP D RGD:12801476 20210603 OMIA Spondylocostal dysostosis, autosomal recessive PMID:25659135 12315095 HES7 hes family bHLH transcription factor 7 gene DOID:9007661 Dwarfism ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Disproportionate short stature PMID:25741868 12315105 MKI67 marker of proliferation Ki-67 gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:20919850|REF_RGD_ID:6483541 12315105 MKI67 marker of proliferation Ki-67 gene DOID:0050868 hepatocellular adenoma ISO RGD:1313525 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:31939706 12315105 MKI67 marker of proliferation Ki-67 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1313525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12315105 MKI67 marker of proliferation Ki-67 gene DOID:0080178 mucositis ISO RGD:1305476 D RGD:9068941 20200609 RGD PMID:21846355|REF_RGD_ID:5509078 12315105 MKI67 marker of proliferation Ki-67 gene DOID:0080600 COVID-19 ISO RGD:1313525 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12315105 MKI67 marker of proliferation Ki-67 gene DOID:0081267 graft-versus-host disease ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:21440078|REF_RGD_ID:6483534 12315105 MKI67 marker of proliferation Ki-67 gene DOID:10286 prostate carcinoma ISO RGD:1305476 D RGD:9068941 20200609 RGD PMID:22268182|REF_RGD_ID:6483545 12315105 MKI67 marker of proliferation Ki-67 gene DOID:10534 stomach cancer treatment ISO RGD:1313525 D RGD:9068941 20210611 RGD human cells in mouse model PMID:29408335|REF_RGD_ID:127284846 12315105 MKI67 marker of proliferation Ki-67 gene DOID:11054 urinary bladder cancer ISO RGD:1305476 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:20367636|REF_RGD_ID:2317708 12315105 MKI67 marker of proliferation Ki-67 gene DOID:1227 neutropenia ISO RGD:1313525 D RGD:9068941 20200609 RGD protein:increased expression:blood, T cell PMID:22092365|REF_RGD_ID:6483522 12315105 MKI67 marker of proliferation Ki-67 gene DOID:12365 malaria ISO RGD:1313526 D RGD:9068941 20200609 RGD associated with Lung Neoplasms PMID:21931708|REF_RGD_ID:6483517 12315105 MKI67 marker of proliferation Ki-67 gene DOID:127 leiomyoma ISO RGD:1305476 D RGD:9068941 20200609 RGD PMID:22302692|REF_RGD_ID:6483544 12315105 MKI67 marker of proliferation Ki-67 gene DOID:1324 lung cancer ameliorates ISO RGD:1313525 D RGD:9068941 20220901 RGD human cells in mouse model PMID:29183007|REF_RGD_ID:153344580 12315105 MKI67 marker of proliferation Ki-67 gene DOID:13949 interstitial cystitis ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:21166752|REF_RGD_ID:6483539 12315105 MKI67 marker of proliferation Ki-67 gene DOID:1612 breast cancer ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:21880954|REF_RGD_ID:6483528 12315105 MKI67 marker of proliferation Ki-67 gene DOID:1612 breast cancer disease_progression ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:22004841|REF_RGD_ID:6483516 12315105 MKI67 marker of proliferation Ki-67 gene DOID:1793 pancreatic cancer ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:20137856|REF_RGD_ID:2317704 12315105 MKI67 marker of proliferation Ki-67 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1313525 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:20350215|REF_RGD_ID:2317703 12315105 MKI67 marker of proliferation Ki-67 gene DOID:219 colon cancer treatment ISO RGD:1305476 D RGD:9068941 20210611 RGD PMID:33360052|REF_RGD_ID:127229954 12315105 MKI67 marker of proliferation Ki-67 gene DOID:2843 long QT syndrome ISO RGD:1313525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12315105 MKI67 marker of proliferation Ki-67 gene DOID:299 adenocarcinoma ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028472 12315105 MKI67 marker of proliferation Ki-67 gene DOID:3042 allergic contact dermatitis ISO RGD:1313526 D RGD:9068941 20200609 RGD PMID:21294775|REF_RGD_ID:6483538 12315105 MKI67 marker of proliferation Ki-67 gene DOID:3070 high grade glioma ISO RGD:1305476 D RGD:9068941 20200609 RGD PMID:22262719|REF_RGD_ID:6483547 12315105 MKI67 marker of proliferation Ki-67 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1313525 D RGD:9068941 20220901 RGD human cells in mouse model PMID:31205511|PMID:32276600|REF_RGD_ID:151357000|REF_RGD_ID:153344584 12315105 MKI67 marker of proliferation Ki-67 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1313525 D RGD:9068941 20220721 RGD protein:altered expression:lung (human) PMID:26942465|REF_RGD_ID:152999419 12315105 MKI67 marker of proliferation Ki-67 gene DOID:4545 mesenchymal chondrosarcoma ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12817616 12315105 MKI67 marker of proliferation Ki-67 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:12903495|REF_RGD_ID:2317705 12315105 MKI67 marker of proliferation Ki-67 gene DOID:5031 adult pineal parenchymal tumor severity ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:21696422|REF_RGD_ID:6483520 12315105 MKI67 marker of proliferation Ki-67 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:21576701|REF_RGD_ID:6483531 12315105 MKI67 marker of proliferation Ki-67 gene DOID:557 kidney disease ISO RGD:1305476 D RGD:9068941 20200609 RGD PMID:22017545|REF_RGD_ID:6483553 12315105 MKI67 marker of proliferation Ki-67 gene DOID:574 peripheral nervous system disease ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 12315105 MKI67 marker of proliferation Ki-67 gene DOID:630 genetic disease ISO RGD:1313525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12315105 MKI67 marker of proliferation Ki-67 gene DOID:684 hepatocellular carcinoma ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12315105 MKI67 marker of proliferation Ki-67 gene DOID:687 hepatoblastoma ameliorates ISO RGD:1313525 D RGD:9068941 20220825 RGD human cells in mouse model PMID:31541079|REF_RGD_ID:153344539 12315105 MKI67 marker of proliferation Ki-67 gene DOID:8719 in situ carcinoma ISO RGD:1313525 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms;protein:increased expression:pancreas PMID:20350215|REF_RGD_ID:2317703 12315105 MKI67 marker of proliferation Ki-67 gene DOID:8778 Crohn's disease ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:21364546|REF_RGD_ID:6483536 12315105 MKI67 marker of proliferation Ki-67 gene DOID:8893 psoriasis ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10384915 12315105 MKI67 marker of proliferation Ki-67 gene DOID:8893 psoriasis ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:22499302|REF_RGD_ID:6483515 12315105 MKI67 marker of proliferation Ki-67 gene DOID:9000918 Disease Progression ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29179997 12315105 MKI67 marker of proliferation Ki-67 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313525 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:20388395|REF_RGD_ID:2317702 12315105 MKI67 marker of proliferation Ki-67 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12315105 MKI67 marker of proliferation Ki-67 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21442130 12315105 MKI67 marker of proliferation Ki-67 gene DOID:9002928 Colonic Neoplasms ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028472 12315105 MKI67 marker of proliferation Ki-67 gene DOID:9002928 Colonic Neoplasms ISO RGD:1313526 D RGD:9068941 20200609 RGD PMID:22070864|REF_RGD_ID:6483523 12315105 MKI67 marker of proliferation Ki-67 gene DOID:9002936 Bile Duct Neoplasms disease_progression ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:9869516|REF_RGD_ID:2317706 12315105 MKI67 marker of proliferation Ki-67 gene DOID:9005372 Inflammation ISO RGD:1313525 D RGD:9068941 20200609 RGD associated with Common Variable Immunodeficiency PMID:21536322|REF_RGD_ID:6483533 12315105 MKI67 marker of proliferation Ki-67 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 12315105 MKI67 marker of proliferation Ki-67 gene DOID:9007533 Hantavirus Infections ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:21795350|REF_RGD_ID:6483519 12315105 MKI67 marker of proliferation Ki-67 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1305476 D RGD:9068941 20200609 RGD PMID:22405128|REF_RGD_ID:6483543 12315105 MKI67 marker of proliferation Ki-67 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12645814 12315105 MKI67 marker of proliferation Ki-67 gene DOID:9008510 Chronic Hepatitis ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 12315105 MKI67 marker of proliferation Ki-67 gene DOID:9008939 Breast Neoplasms ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15706428|PMID:18768436|PMID:19436038 12315105 MKI67 marker of proliferation Ki-67 gene DOID:9074 systemic lupus erythematosus ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:21693493|REF_RGD_ID:6483529 12315105 MKI67 marker of proliferation Ki-67 gene DOID:9206 Barrett's esophagus severity ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:22147251|REF_RGD_ID:6483521 12315105 MKI67 marker of proliferation Ki-67 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1313525 D RGD:9068941 20220908 RGD human cells in mouse model PMID:34974791|REF_RGD_ID:153344629 12315105 MKI67 marker of proliferation Ki-67 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1305476 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:20045412|REF_RGD_ID:2317709 12315128 LYPLA2 lysophospholipase 2 gene DOID:630 genetic disease ISO RGD:733893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12315128 LYPLA2 lysophospholipase 2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:733893 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12315141 MGME1 mitochondrial genome maintenance exonuclease 1 gene DOID:0080129 mitochondrial DNA depletion syndrome 11 ISO RGD:1316675 D RGD:7240710 20180130 OMIM 12315141 MGME1 mitochondrial genome maintenance exonuclease 1 gene DOID:0080129 mitochondrial DNA depletion syndrome 11 ISO RGD:1316675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 11 PMID:23313956|PMID:25741868|PMID:28097321|PMID:28492532|PMID:28711739 12315141 MGME1 mitochondrial genome maintenance exonuclease 1 gene DOID:0080600 COVID-19 ISO RGD:1316675 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12315141 MGME1 mitochondrial genome maintenance exonuclease 1 gene DOID:11162 respiratory failure ISO RGD:1316675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23313956 12315141 MGME1 mitochondrial genome maintenance exonuclease 1 gene DOID:539 ophthalmoplegia ISO RGD:1316675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23313956 12315141 MGME1 mitochondrial genome maintenance exonuclease 1 gene DOID:630 genetic disease ISO RGD:1316675 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12315141 MGME1 mitochondrial genome maintenance exonuclease 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:1316675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23313956 12315141 MGME1 mitochondrial genome maintenance exonuclease 1 gene DOID:9000498 Emaciation ISO RGD:1316675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23313956 12315211 FMO1 flavin containing dimethylaniline monoxygenase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736452 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12315211 FMO1 flavin containing dimethylaniline monoxygenase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17127561 12315211 FMO1 flavin containing dimethylaniline monoxygenase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:736452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12315211 FMO1 flavin containing dimethylaniline monoxygenase 1 gene DOID:630 genetic disease ISO RGD:736452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12315211 FMO1 flavin containing dimethylaniline monoxygenase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 12315211 FMO1 flavin containing dimethylaniline monoxygenase 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:736452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12315211 FMO1 flavin containing dimethylaniline monoxygenase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12315229 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:0060041 autism spectrum disorder ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 12315229 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome 12315229 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:1323647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 12315229 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:0080205 CAKUT ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:27657687 12315229 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:0110231 cataract 1 multiple types ISO RGD:1323647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 1 multiple types PMID:17601931|PMID:23720739|PMID:23772370|PMID:28492532 12315229 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:1227 neutropenia ISO RGD:1323647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 12315229 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 12315229 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:1540 parathyroid carcinoma ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12315229 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:18 urinary system disease ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the urinary system 12315229 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:303 substance-related disorder ISO RGD:1323647 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12315229 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:5419 schizophrenia ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12315229 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12315229 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:630 genetic disease ISO RGD:1323647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12315229 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12315229 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:9007661 Dwarfism ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12315229 CHD1L chromodomain helicase DNA binding protein 1 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12315254 SMC5 structural maintenance of chromosomes 5 gene DOID:630 genetic disease ISO RGD:1316718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12315254 SMC5 structural maintenance of chromosomes 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12315254 SMC5 structural maintenance of chromosomes 5 gene DOID:9005150 Mosaic Variegated Aneuploidy Syndrome 6 ISO RGD:1316718 D RGD:7240710 20230125 OMIM 12315254 SMC5 structural maintenance of chromosomes 5 gene DOID:9005150 Mosaic Variegated Aneuploidy Syndrome 6 ISO RGD:1316718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Atelis syndrome 2 PMID:36333305 12315287 KALRN kalirin RhoGEF kinase gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1601887 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12315287 KALRN kalirin RhoGEF kinase gene DOID:630 genetic disease ISO RGD:1601887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12315287 KALRN kalirin RhoGEF kinase gene DOID:9000528 Coronary Disease ISO RGD:1601887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary heart disease, susceptibility to, 5 PMID:17357071|PMID:25741868 12315287 KALRN kalirin RhoGEF kinase gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1601887 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 12315287 KALRN kalirin RhoGEF kinase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1601887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12315287 KALRN kalirin RhoGEF kinase gene DOID:9270 alkaptonuria ISO RGD:1601887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12315379 SERPINA9 serpin family A member 9 gene DOID:0081063 DICER1 syndrome ISO RGD:1312435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 12315379 SERPINA9 serpin family A member 9 gene DOID:630 genetic disease ISO RGD:1312435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12315395 ITGAE integrin subunit alpha E gene DOID:3613 Canavan disease ISO RGD:1346113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:28492532|PMID:7668285 12315395 ITGAE integrin subunit alpha E gene DOID:630 genetic disease ISO RGD:1346113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12315435 OR9Q3 olfactory receptor family 9 subfamily Q member 3 gene DOID:1059 intellectual disability ISO RGD:1351092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12315435 OR9Q3 olfactory receptor family 9 subfamily Q member 3 gene DOID:630 genetic disease ISO RGD:1351092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12315438 KCNK7 potassium two pore domain channel subfamily K member 7 gene DOID:1059 intellectual disability ISO RGD:1604643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12315438 KCNK7 potassium two pore domain channel subfamily K member 7 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12315438 KCNK7 potassium two pore domain channel subfamily K member 7 gene DOID:2746 glycogen storage disease V ISO RGD:1604643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12315438 KCNK7 potassium two pore domain channel subfamily K member 7 gene DOID:3070 high grade glioma ISO RGD:1604643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12315438 KCNK7 potassium two pore domain channel subfamily K member 7 gene DOID:630 genetic disease ISO RGD:1604643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12315438 KCNK7 potassium two pore domain channel subfamily K member 7 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1604643 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12315438 KCNK7 potassium two pore domain channel subfamily K member 7 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 12315445 GLIS3 GLIS family zinc finger 3 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:1348907 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:25741868|PMID:27899417|PMID:28492532|PMID:29146476|PMID:29992946|PMID:32693112|PMID:35394098 12315445 GLIS3 GLIS family zinc finger 3 gene DOID:0060638 neonatal diabetes mellitus with congenital hypothyroidism ISO RGD:1348907 D RGD:7240710 20180130 OMIM 12315445 GLIS3 GLIS family zinc finger 3 gene DOID:0060638 neonatal diabetes mellitus with congenital hypothyroidism ISO RGD:1348907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NDH SYNDROME | ClinVar Annotator: match by term: Neonatal diabetes mellitus with congenital hypothyroidism PMID:12966531|PMID:16715098|PMID:18263616|PMID:18414213|PMID:23856252|PMID:24033266|PMID:25741868|PMID:26259131|PMID:27899417|PMID:28253873|PMID:28444304|PMID:28492532|PMID:29146476|PMID:29992946|PMID:31415576|PMID:32425884|PMID:32693112|PMID:35394098 12315445 GLIS3 GLIS family zinc finger 3 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1348907 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12315445 GLIS3 GLIS family zinc finger 3 gene DOID:0070093 schizophrenia 18 ISO RGD:1348907 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Schizophrenia 18 PMID:23341099 12315445 GLIS3 GLIS family zinc finger 3 gene DOID:12271 aniridia ISO RGD:1348907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia PMID:26893459 12315445 GLIS3 GLIS family zinc finger 3 gene DOID:13550 angle-closure glaucoma ISO RGD:1348907 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27064256 12315445 GLIS3 GLIS family zinc finger 3 gene DOID:630 genetic disease ISO RGD:1348907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12315445 GLIS3 GLIS family zinc finger 3 gene DOID:9351 diabetes mellitus ISO RGD:1348907 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:18414213|PMID:25741868|PMID:27899417|PMID:28492532|PMID:29146476|PMID:29992946|PMID:31415576|PMID:32693112|PMID:35394098 12315445 GLIS3 GLIS family zinc finger 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348907 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158537 12315445 GLIS3 GLIS family zinc finger 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1348907 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430480 12315485 ITM2C integral membrane protein 2C gene DOID:0060476 Perlman syndrome ISO RGD:1319877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12315485 ITM2C integral membrane protein 2C gene DOID:0110991 Joubert syndrome 22 ISO RGD:1319877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12315485 ITM2C integral membrane protein 2C gene DOID:630 genetic disease ISO RGD:1319877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12315495 ERP27 endoplasmic reticulum protein 27 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1605301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12315495 ERP27 endoplasmic reticulum protein 27 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1605301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12315495 ERP27 endoplasmic reticulum protein 27 gene DOID:630 genetic disease ISO RGD:1605301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12315506 CLVS1 clavesin 1 gene DOID:0050834 CHARGE syndrome ISO RGD:1602646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:18413373|PMID:19772954|PMID:22258531|PMID:22902603|PMID:28492532 12315506 CLVS1 clavesin 1 gene DOID:630 genetic disease ISO RGD:1602646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12315516 IFI44 interferon induced protein 44 gene DOID:0080600 COVID-19 ISO RGD:1321473 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12315516 IFI44 interferon induced protein 44 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1321473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 12315516 IFI44 interferon induced protein 44 gene DOID:630 genetic disease ISO RGD:1321473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12315516 IFI44 interferon induced protein 44 gene DOID:9001488 Human Influenza ISO RGD:1321473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12315516 IFI44 interferon induced protein 44 gene DOID:9003281 Spontaneous Abortions ISO RGD:1321473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12315533 PRKCH protein kinase C eta gene DOID:303 substance-related disorder ISO RGD:735345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12315533 PRKCH protein kinase C eta gene DOID:3526 cerebral infarction ISO RGD:735345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral infarction, susceptibility to | ClinVar Annotator: match by term: Ischemic stroke PMID:12958323|PMID:17206144|PMID:25741868 12315533 PRKCH protein kinase C eta gene DOID:3526 cerebral infarction susceptibility ISO RGD:735345 D RGD:7240710 20230505 OMIM 12315533 PRKCH protein kinase C eta gene DOID:630 genetic disease ISO RGD:735345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12315533 PRKCH protein kinase C eta gene DOID:9970 obesity ISO RGD:735345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23563609 12315551 GAB3 GRB2 associated binding protein 3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1353554 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12315551 GAB3 GRB2 associated binding protein 3 gene DOID:0050476 Barth syndrome ISO RGD:1353554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12315551 GAB3 GRB2 associated binding protein 3 gene DOID:0050800 creatine transporter deficiency ISO RGD:1353554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12315551 GAB3 GRB2 associated binding protein 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1353554 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12315551 GAB3 GRB2 associated binding protein 3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1353554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12315551 GAB3 GRB2 associated binding protein 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1353554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12315551 GAB3 GRB2 associated binding protein 3 gene DOID:12849 autistic disorder ISO RGD:1353554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12315551 GAB3 GRB2 associated binding protein 3 gene DOID:13628 favism ISO RGD:1353554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12315551 GAB3 GRB2 associated binding protein 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1353554 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12315551 GAB3 GRB2 associated binding protein 3 gene DOID:607 paraplegia ISO RGD:1353554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12315551 GAB3 GRB2 associated binding protein 3 gene DOID:630 genetic disease ISO RGD:1353554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12315551 GAB3 GRB2 associated binding protein 3 gene DOID:9002720 Splenomegaly ISO RGD:1353554 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12315565 SNRPG small nuclear ribonucleoprotein polypeptide G gene DOID:3910 lung adenocarcinoma ISO RGD:1353294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12315565 SNRPG small nuclear ribonucleoprotein polypeptide G gene DOID:9006205 Animal Disease Models ISO RGD:1353294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12315565 SNRPG small nuclear ribonucleoprotein polypeptide G gene DOID:9261 nasopharynx carcinoma ISO RGD:1353294 D RGD:9068941 20200609 RGD mRNA:increased expression:nasopharynx (human) PMID:24080422|REF_RGD_ID:10755709 12315574 MBOAT7 membrane bound O-acyltransferase domain containing 7 gene DOID:0081219 autosomal recessive intellectual developmental disorder 57 ISO RGD:1353967 D RGD:7240710 20190315 OMIM 12315574 MBOAT7 membrane bound O-acyltransferase domain containing 7 gene DOID:0081219 autosomal recessive intellectual developmental disorder 57 ISO RGD:1353967 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 57 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 57 PMID:24033266|PMID:25741868|PMID:27616480|PMID:31852446|PMID:33335874 12315574 MBOAT7 membrane bound O-acyltransferase domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1353967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 12315574 MBOAT7 membrane bound O-acyltransferase domain containing 7 gene DOID:10908 hydrocephalus ISO RGD:1551274 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 12315574 MBOAT7 membrane bound O-acyltransferase domain containing 7 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1353967 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26482880 12315574 MBOAT7 membrane bound O-acyltransferase domain containing 7 gene DOID:630 genetic disease ISO RGD:1353967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27616480|PMID:31852446|PMID:33335874 12315594 RBM44 RNA binding motif protein 44 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1625816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12315594 RBM44 RNA binding motif protein 44 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1625816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12315594 RBM44 RNA binding motif protein 44 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1625816 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12315594 RBM44 RNA binding motif protein 44 gene DOID:1059 intellectual disability ISO RGD:1625816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12315594 RBM44 RNA binding motif protein 44 gene DOID:630 genetic disease ISO RGD:1625816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12315594 RBM44 RNA binding motif protein 44 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1625816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:0001816 angiosarcoma ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737202 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:737202 D RGD:9068941 20200609 RGD associated with Carcinoma, Ductal, Breast PMID:15841074|REF_RGD_ID:2289965 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:0060224 atrial fibrillation ISO RGD:737202 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart: PMID:20631454|REF_RGD_ID:8551825 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:0060669 cerebral cavernous malformation ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell: PMID:11220380|REF_RGD_ID:8551824 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell: PMID:11220380|REF_RGD_ID:8551824 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:0080600 COVID-19 ISO RGD:737202 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:10591 pre-eclampsia ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18679377|PMID:28628106 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:10591 pre-eclampsia ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:15472115|REF_RGD_ID:1582493 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:10591 pre-eclampsia ISO RGD:737202 D RGD:9068941 20230330 RGD mRNA,protein:increased expression:placenta PMID:22262697|REF_RGD_ID:243048428 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:vitreous: PMID:22868384|REF_RGD_ID:10402118 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:737202 D RGD:9068941 20200609 RGD DNA:SNP::rs9943922, rs9508034, rs2281827, rs7324510, rs9513115 (human) PMID:24812550|REF_RGD_ID:10402108 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:10873 Kuhnt-Junius degeneration treatment ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:20609706|REF_RGD_ID:10402116 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:11212 hydrophthalmos ISO RGD:734184 D RGD:9068941 20200609 RGD PMID:22426483|REF_RGD_ID:8549773 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:11382 corneal neovascularization treatment ISO RGD:2621 D RGD:9068941 20200609 RGD PMID:19647313|REF_RGD_ID:10402147 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:22003089|REF_RGD_ID:10402122 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:13025 retinopathy of prematurity ISO RGD:734184 D RGD:9068941 20200609 RGD PMID:21731737|REF_RGD_ID:5684426 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:13025 retinopathy of prematurity treatment ISO RGD:2621 D RGD:9068941 20221117 RGD PMID:30652694|REF_RGD_ID:155663485 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:vitreous: PMID:22868384|REF_RGD_ID:10402118 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:13208 background diabetic retinopathy ISO RGD:737202 D RGD:9068941 20200609 RGD protein:decreased expression:aqueous humor: PMID:23853629|REF_RGD_ID:10402120 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:737202 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:13378 Kawasaki disease ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:11839635|REF_RGD_ID:1582494 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:1520 colon carcinoma ISO RGD:737202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:1612 breast cancer ISO RGD:2621 D RGD:9068941 20200609 RGD protein:increased expression:mammary carcinoma cells PMID:10604730|REF_RGD_ID:2289937 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737202 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:1909 melanoma ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19718025 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:1909 melanoma ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21730877|REF_RGD_ID:8552360 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:1967 leiomyosarcoma severity ISO RGD:737202 D RGD:9068941 20200609 RGD Uterine; protein:increased expression:tumor:increased phospho-FLT1 level significantly associated with decreased survival rate (p=0.008) PMID:15823121|REF_RGD_ID:2289964 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:2154 nephroblastoma severity ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:blastemal cells:expression associated with poor prognosis in chemotherapy treated patients PMID:12560388|REF_RGD_ID:2289966 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:734184 D RGD:9068941 20200609 RGD PMID:17077813|REF_RGD_ID:10402150 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:2256 osteochondrodysplasia ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17954590 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:2696 Leydig cell tumor ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:14517422|REF_RGD_ID:2301251 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:3042 allergic contact dermatitis ISO RGD:737202 D RGD:9068941 20200609 RGD mRNA:protein:skin: PMID:7876550|REF_RGD_ID:7421586 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15681497|REF_RGD_ID:5684420 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:326 ischemia ISO RGD:734184 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:17823371|REF_RGD_ID:2313719 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737202 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:737202 D RGD:9068941 20220310 RGD PMID:32626543|REF_RGD_ID:151665104 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:4448 macular degeneration ISO RGD:734184 D RGD:9068941 20200609 RGD PMID:21731737|REF_RGD_ID:5684426 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:4449 macular retinal edema ISO RGD:737202 D RGD:9068941 20200609 RGD associated with Branch Retinal Vein Occlusion; protein:increased expression:aqueous humor: PMID:24894397|REF_RGD_ID:10402117 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16596207 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:737202 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:expression significantly higher in tumors than corresponding normal tissue (p=0.01), significantly correlated with VEGF expression PMID:11846206|REF_RGD_ID:2289960 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:kidney, blood, myeloid cell PMID:18566400|REF_RGD_ID:2301250 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:4676 uremia ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:5082 liver cirrhosis ISO RGD:2621 D RGD:9068941 20200609 RGD mRNA:increased expressin:liver: PMID:11981751|REF_RGD_ID:634296 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:5082 liver cirrhosis ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11981751 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:5844 myocardial infarction ISO RGD:2621 D RGD:9068941 20200609 RGD PMID:16714360|REF_RGD_ID:1601493 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:630 genetic disease ISO RGD:737202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:8398 osteoarthritis ISO RGD:737202 D RGD:9068941 20200609 RGD mRNA:increased expression:trabecular bone: PMID:15781004|REF_RGD_ID:10402109 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:737202 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:10893635|REF_RGD_ID:2301255 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:8725 vascular dementia treatment ISO RGD:2621 D RGD:9068941 20200609 RGD PMID:22500404|REF_RGD_ID:10402076 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:8893 psoriasis disease_progression ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:20980160|REF_RGD_ID:8552359 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:8947 diabetic retinopathy ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:17143550|REF_RGD_ID:2313721 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:8947 diabetic retinopathy treatment ISO RGD:2621 D RGD:9068941 20200609 RGD PMID:18174522|REF_RGD_ID:10402119 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2621 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord, astrocyte, macrophage PMID:17409380|REF_RGD_ID:5684414 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9000528 Coronary Disease ISO RGD:737202 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ventricle myocardium PMID:16139132|REF_RGD_ID:2313728 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9000918 Disease Progression ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23146280 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21975929 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:2621 D RGD:9068941 20200609 RGD PMID:23804076|REF_RGD_ID:10402115 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:734184 D RGD:9068941 20200609 RGD PMID:23977149|REF_RGD_ID:10402113 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:10849558|REF_RGD_ID:10402112 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737202 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:urine PMID:15610240|REF_RGD_ID:2313731 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9002265 Kidney Neoplasms severity ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression, alternative form:serum:increased expression of soluble domain in serum associated with poor survival (p=0.01) PMID:11448916|REF_RGD_ID:2289948 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737202 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter:methylated in 24/63 (38.1%) of cancer samples but 0/13 (0%) of benign prostate samples PMID:12824880|REF_RGD_ID:2289963 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:prostate:expression in 15/15 (100%) of tumors examined, levels increased in neoplastic tissue relative to adjacent benign tissue PMID:10475375|REF_RGD_ID:2289936 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9002457 Experimental Arthritis ISO RGD:734184 D RGD:9068941 20200609 RGD PMID:19180491|REF_RGD_ID:6483591 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9002514 Neointima ISO RGD:2621 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:smooth muscle cell: PMID:9400373|REF_RGD_ID:10402128 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9002514 Neointima treatment ISO RGD:2621 D RGD:9068941 20200609 RGD PMID:22814749|REF_RGD_ID:10402146 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:2621 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:17888890|REF_RGD_ID:10402152 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17888890 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:734184 D RGD:9068941 20200609 RGD PMID:11929819|REF_RGD_ID:2301253 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:11448924|REF_RGD_ID:2301254 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:ovarian epithelial carcinoma PMID:15350351|REF_RGD_ID:2289945 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:18721816|REF_RGD_ID:10402153 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9002801 Recurrence ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23146280|PMID:26124351 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737202 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:17306351|REF_RGD_ID:2289084 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9004268 Uterine Neoplasms ISO RGD:737202 D RGD:9068941 20200609 RGD Uterine sarcomas; protein:altered expression:tumor:increased expression of total FLT1 but decreased expression of phospho-FLT1 PMID:15823121|REF_RGD_ID:2289964 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9004332 Osteoarthritis, Experimental ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:23041435|REF_RGD_ID:10402106 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9004464 Skin Neoplasms ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19718025 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:737202 D RGD:9068941 20200609 RGD Pneumonia associated sepsis PMID:21219633|REF_RGD_ID:4891938 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9004610 Acute Lung Injury ISO RGD:2621 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:21528367|REF_RGD_ID:5684427 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2621 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:16741021|REF_RGD_ID:2313724 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734184 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:16816123|REF_RGD_ID:2313725 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21135413 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:10831352|REF_RGD_ID:2301256 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9007715 Endometrial Neoplasms severity ISO RGD:737202 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:endometrium PMID:12485477|REF_RGD_ID:2301252 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9008821 Otitis Media with Effusion ISO RGD:2621 D RGD:9068941 20200609 RGD mRNA:increased expression:mucosa of the middle ear; PMID:12875575|REF_RGD_ID:8547977 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23146280|PMID:26124351 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression, alternative form:tumor:increased expression of soluble form, significantly correlated with VEGF expression PMID:11857378|REF_RGD_ID:2289961 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9008939 Breast Neoplasms severity ISO RGD:737202 D RGD:9068941 20200609 RGD protein:altered expression:tumor:positive expression improves survival rate after neoadjuvant chemotherapy, negative expression associated with poor prognosis PMID:12910290|REF_RGD_ID:2289962 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:737202 D RGD:9068941 20210514 RGD PMID:16480593|REF_RGD_ID:126925191 12315676 FLT1 fms related receptor tyrosine kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734184 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:skeletal muscle PMID:17823371|REF_RGD_ID:2313719 12315714 ATP4A ATPase H+/K+ transporting subunit alpha gene DOID:0110222 Brugada syndrome 5 ISO RGD:734000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12315714 ATP4A ATPase H+/K+ transporting subunit alpha gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:734000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12315714 ATP4A ATPase H+/K+ transporting subunit alpha gene DOID:543 dystonia ISO RGD:734000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12315714 ATP4A ATPase H+/K+ transporting subunit alpha gene DOID:630 genetic disease ISO RGD:734000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12315740 SERHL2 serine hydrolase like 2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1602055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 12315740 SERHL2 serine hydrolase like 2 gene DOID:1059 intellectual disability ISO RGD:1602055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12315740 SERHL2 serine hydrolase like 2 gene DOID:630 genetic disease ISO RGD:1602055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12315740 SERHL2 serine hydrolase like 2 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1602055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 12315757 UBR2 ubiquitin protein ligase E3 component n-recognin 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1313853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12315757 UBR2 ubiquitin protein ligase E3 component n-recognin 2 gene DOID:630 genetic disease ISO RGD:1313853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12315757 UBR2 ubiquitin protein ligase E3 component n-recognin 2 gene DOID:905 Zellweger syndrome ISO RGD:1313853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12315817 GKAP1 G kinase anchoring protein 1 gene DOID:630 genetic disease ISO RGD:1315863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12315834 GATC glutamyl-tRNA amidotransferase subunit C gene DOID:0112118 combined oxidative phosphorylation deficiency 42 ISO RGD:1606925 D RGD:7240710 20200520 OMIM 12315834 GATC glutamyl-tRNA amidotransferase subunit C gene DOID:0112118 combined oxidative phosphorylation deficiency 42 ISO RGD:1606925 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 42 PMID:25741868|PMID:30283131 12315834 GATC glutamyl-tRNA amidotransferase subunit C gene DOID:630 genetic disease ISO RGD:1606925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12315834 GATC glutamyl-tRNA amidotransferase subunit C gene DOID:9000777 Mitochondrial Cardiomyopathy ISO RGD:1606925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial PMID:30283131 12315855 SPAG16 sperm associated antigen 16 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1352269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12315855 SPAG16 sperm associated antigen 16 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1352269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12315855 SPAG16 sperm associated antigen 16 gene DOID:630 genetic disease ISO RGD:1352269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12315855 SPAG16 sperm associated antigen 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12315888 SMIM14 small integral membrane protein 14 gene DOID:630 genetic disease ISO RGD:1606130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12315888 SMIM14 small integral membrane protein 14 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1606130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 12315908 STARD4 StAR related lipid transfer domain containing 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319833 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12315908 STARD4 StAR related lipid transfer domain containing 4 gene DOID:630 genetic disease ISO RGD:1319833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12315908 STARD4 StAR related lipid transfer domain containing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12315908 STARD4 StAR related lipid transfer domain containing 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12315908 STARD4 StAR related lipid transfer domain containing 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319833 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12315922 NUP133 nucleoporin 133 gene DOID:0080393 nephrotic syndrome type 18 ISO RGD:1317249 D RGD:7240710 20190315 OMIM 12315922 NUP133 nucleoporin 133 gene DOID:0080393 nephrotic syndrome type 18 ISO RGD:1317249 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 18 PMID:25741868|PMID:28492532|PMID:30179222 12315922 NUP133 nucleoporin 133 gene DOID:1540 parathyroid carcinoma ISO RGD:1317249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12315922 NUP133 nucleoporin 133 gene DOID:1826 epilepsy ISO RGD:1317249 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12315922 NUP133 nucleoporin 133 gene DOID:630 genetic disease ISO RGD:1317249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12315922 NUP133 nucleoporin 133 gene DOID:9005443 Galloway-Mowat Syndrome 8 ISO RGD:1317249 D RGD:7240710 20190315 OMIM 12315922 NUP133 nucleoporin 133 gene DOID:9005443 Galloway-Mowat Syndrome 8 ISO RGD:1317249 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 PMID:11793129|PMID:25741868|PMID:28492532|PMID:30427554 12315922 NUP133 nucleoporin 133 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1317249 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 12315922 NUP133 nucleoporin 133 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12315952 COL24A1 collagen type XXIV alpha 1 chain gene DOID:10283 prostate cancer ISO RGD:1349074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12315952 COL24A1 collagen type XXIV alpha 1 chain gene DOID:630 genetic disease ISO RGD:1349074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19204719|PMID:9724608 12316030 NCF2 neutrophil cytosolic factor 2 gene DOID:0050855 renal fibrosis ISO RGD:1309424 D RGD:9068941 20200609 RGD PMID:22326221|REF_RGD_ID:9587793 12316030 NCF2 neutrophil cytosolic factor 2 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1319760 D RGD:7240710 20180130 OMIM 12316030 NCF2 neutrophil cytosolic factor 2 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1319760 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:10498624|PMID:10598813|PMID:11499676|PMID:16199547|PMID:16937026|PMID:17576681|PMID:18625437|PMID:19624736|PMID:19683193|PMID:19953534|PMID:20167518|PMID:21900546|PMID:23821607|PMID:24033266|PMID:24931457|PMID:25640679|PMID:25741868|PMID:25937994|PMID:26272171|PMID:28492532|PMID:28750028|PMID:29454792|PMID:30290665|PMID:30470980|PMID:30716179|PMID:32081864|PMID:32281309|PMID:33746979|PMID:7795241|PMID:8781442|PMID:8879195|PMID:9536098 12316030 NCF2 neutrophil cytosolic factor 2 gene DOID:0080452 developmental and epileptic encephalopathy 28 ISO RGD:1319760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 PMID:16937026|PMID:23821607|PMID:25741868|PMID:28492532 12316030 NCF2 neutrophil cytosolic factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:1319760 D RGD:9068941 20200609 RGD protein:altered localization PMID:10873554|REF_RGD_ID:2314452 12316030 NCF2 neutrophil cytosolic factor 2 gene DOID:10763 hypertension ISO RGD:1309424 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:19307699|REF_RGD_ID:2314430 12316030 NCF2 neutrophil cytosolic factor 2 gene DOID:11832 visual epilepsy ISO RGD:1309424 D RGD:9068941 20200609 RGD protein:altered localization PMID:15606902|REF_RGD_ID:2314448 12316030 NCF2 neutrophil cytosolic factor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1319760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12316030 NCF2 neutrophil cytosolic factor 2 gene DOID:3265 chronic granulomatous disease ISO RGD:1319760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic granulomatous disease 12316030 NCF2 neutrophil cytosolic factor 2 gene DOID:576 proteinuria ISO RGD:1309424 D RGD:9068941 20200609 RGD PMID:22326221|REF_RGD_ID:9587793 12316030 NCF2 neutrophil cytosolic factor 2 gene DOID:630 genetic disease ISO RGD:1319760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12316030 NCF2 neutrophil cytosolic factor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1319760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 12316030 NCF2 neutrophil cytosolic factor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1319760 D RGD:9068941 20210205 RGD DNA:polymorphism, SNP:cds (rs789181) (human) PMID:17897462|REF_RGD_ID:41404710 12316030 NCF2 neutrophil cytosolic factor 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1309424 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:14644473|REF_RGD_ID:2314450 12316030 NCF2 neutrophil cytosolic factor 2 gene DOID:9000955 Acute Otitis Media ISO RGD:8925847 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mucosa of middle ear PMID:26711468|REF_RGD_ID:11553828 12316030 NCF2 neutrophil cytosolic factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309424 D RGD:9068941 20200609 RGD protein:altered localization:glomerulus PMID:14514646|REF_RGD_ID:2314451 12316030 NCF2 neutrophil cytosolic factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309424 D RGD:9068941 20200609 RGD protein:increased expression:heart, membrane fraction PMID:18061195|REF_RGD_ID:2314434 12316030 NCF2 neutrophil cytosolic factor 2 gene DOID:9007730 Burns ISO RGD:1309424 D RGD:9068941 20200609 RGD protein:increased expression:neutrophil PMID:9329126|REF_RGD_ID:2314453 12316030 NCF2 neutrophil cytosolic factor 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1319760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12316030 NCF2 neutrophil cytosolic factor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12316030 NCF2 neutrophil cytosolic factor 2 gene DOID:9970 obesity ISO RGD:1309424 D RGD:9068941 20200609 RGD protein:increased expression:artery PMID:17515452|REF_RGD_ID:2314435 12316055 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:0050777 Joubert syndrome ISO RGD:732200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12316055 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:732200 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12316055 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:732200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12316055 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:732200 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12316055 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:732200 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12316055 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:732200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12316055 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:732200 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12316055 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:732200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12316055 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:732200 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12316055 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:0081097 Rafiq syndrome ISO RGD:732200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12316055 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:732200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia with Dysarthria PMID:31047799 12316055 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:1826 epilepsy ISO RGD:732200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12316055 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:3652 Leigh disease ISO RGD:732200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12316055 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:630 genetic disease ISO RGD:732200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316055 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:732200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12316055 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:9006881 INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA ISO RGD:732200 D RGD:7240710 20200722 OMIM 12316055 ABCA2 ATP binding cassette subfamily A member 2 gene DOID:9006881 INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA ISO RGD:732200 D RGD:8554872 20220913 ClinVar ClinVar Annotator: match by term: ABCA2-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with poor growth and with or without seizures or ataxia PMID:25741868|PMID:28492532|PMID:30237576 12316107 KLHL29 kelch like family member 29 gene DOID:630 genetic disease ISO RGD:1605890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413734|PMID:24413737 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:21067377|PMID:21518476|PMID:22160010|PMID:22722925|PMID:22744846|PMID:22898539|PMID:22898541|PMID:24606448|PMID:24622842|PMID:24656771|PMID:25741868|PMID:26619011|PMID:26822784|PMID:26876596|PMID:27317772|PMID:27991732|PMID:28166811|PMID:28432085|PMID:28492532|PMID:28941052|PMID:29900417|PMID:30185810|PMID:30478443|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:34788385 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1606038 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R882 (human) PMID:22066015|REF_RGD_ID:11041124 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1606038 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:21415852|REF_RGD_ID:11041122 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:0060041 autism spectrum disorder ISO RGD:1606038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:0070004 myeloid neoplasm ISO RGD:1606038 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myeloproliferative disorder PMID:25363760|PMID:25741868|PMID:29900417|PMID:30478443|PMID:32581362|PMID:33238114|PMID:34315901 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1606038 D RGD:7240710 20180130 OMIM 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1606038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:11836534|PMID:15456878|PMID:16199547|PMID:17576681|PMID:21067377|PMID:21518476|PMID:22160010|PMID:22722925|PMID:22744846|PMID:22898539|PMID:24606448|PMID:24614070|PMID:24622842|PMID:24656771|PMID:24728327|PMID:25363760|PMID:25741868|PMID:26619011|PMID:26822784|PMID:26866722|PMID:26876596|PMID:26912663|PMID:27317772|PMID:27701732|PMID:27991732|PMID:28166811|PMID:28432085|PMID:28475857|PMID:28492532|PMID:28941052|PMID:29740169|PMID:29900417|PMID:30185810|PMID:30478443|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:32435502|PMID:32581362|PMID:32860008|PMID:33182397|PMID:33238114|PMID:34315901|PMID:34788385|PMID:9536098 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:10534 stomach cancer susceptibility ISO RGD:1606038 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-488A>G(rs36012910)(human) PMID:20128888|REF_RGD_ID:9589068 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:1059 intellectual disability ISO RGD:1606038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:10907 microcephaly ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30478443 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:11446 sciatic neuropathy ISO RGD:1620920 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:22031875|REF_RGD_ID:9589072 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:1324 lung cancer disease_progression ISO RGD:1606038 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:24548441|REF_RGD_ID:9588658 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:14654 prostatitis ISO RGD:1303336 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:prostate gland ventral lobe: PMID:20056826|REF_RGD_ID:9588290 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:1682 congenital heart disease ISO RGD:1303336 D RGD:9068941 20200609 RGD associated with Vitamin A Deficiency; mRNA:decreased expression:heart: PMID:23333085|REF_RGD_ID:9588314 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:1909 melanoma ISO RGD:1606038 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Melanoma PMID:24614070|PMID:28475857|PMID:28492532|PMID:29900417 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:2526 prostate adenocarcinoma ISO RGD:1620920 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland: PMID:17178860|REF_RGD_ID:2289681 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:288 endometriosis of uterus ISO RGD:1606038 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium: PMID:22572543|REF_RGD_ID:9588664 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:289 endometriosis ISO RGD:1606038 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium: PMID:17081533|REF_RGD_ID:9588669 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:3068 glioblastoma ISO RGD:1606038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1620920 D RGD:9068941 20200609 RGD protein:decreased expression:mitochondrion: PMID:24399935|REF_RGD_ID:9589066 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:3525 middle cerebral artery infarction ISO RGD:1303336 D RGD:9068941 20200609 RGD PMID:23516428|REF_RGD_ID:9589049 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:3905 lung carcinoma disease_progression ISO RGD:1303336 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:21163286|REF_RGD_ID:9588222 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:3910 lung adenocarcinoma ISO RGD:1606038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:21067377|PMID:21518476|PMID:22160010|PMID:22722925|PMID:22744846|PMID:22898539|PMID:22898541|PMID:24606448|PMID:24622842|PMID:24656771|PMID:25741868|PMID:26619011|PMID:26822784|PMID:26876596|PMID:27317772|PMID:27991732|PMID:28166811|PMID:28432085|PMID:28492532|PMID:28941052|PMID:29900417|PMID:30185810|PMID:30478443|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:34788385 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27292127 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:4961 bone marrow disease ISO RGD:1620920 D RGD:9068941 20200609 RGD PMID:25416277|REF_RGD_ID:11041127 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1606038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:5603 T-cell acute lymphoblastic leukemia disease_progression ISO RGD:1606038 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:23341344|REF_RGD_ID:9589073 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:5603 T-cell acute lymphoblastic leukemia susceptibility ISO RGD:1606038 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation:exon:p.R882H(human) PMID:26072070|REF_RGD_ID:11041131 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:630 genetic disease ISO RGD:1606038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11836534|PMID:15456878|PMID:21067377|PMID:21518476|PMID:22160010|PMID:22722925|PMID:22744846|PMID:22898539|PMID:24606448|PMID:24614070|PMID:24622842|PMID:24656771|PMID:25741868|PMID:26619011|PMID:26822784|PMID:26876596|PMID:26912663|PMID:27317772|PMID:27701732|PMID:27991732|PMID:28166811|PMID:28432085|PMID:28475857|PMID:28492532|PMID:28941052|PMID:29900417|PMID:30185810|PMID:30478443|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:34315901|PMID:34788385 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1303336 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:11844796|REF_RGD_ID:2289670 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1606038 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:15885882|REF_RGD_ID:9588598 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:8541 Sezary's disease ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:1606038 D RGD:9068941 20200609 RGD PMID:11222358|REF_RGD_ID:9588667 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:8778 Crohn's disease ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:8864 acute monocytic leukemia ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21399634 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1606038 D RGD:9068941 20200609 RGD mRNA:decreased expression:mononuclear cell PMID:18683034|REF_RGD_ID:9588662 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:9001487 Facies ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24614070 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1303336 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:23716065|REF_RGD_ID:9588620 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:9004253 Immunoblastic Lymphadenopathy ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413737 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:21067377|PMID:21518476|PMID:22160010|PMID:22744846|PMID:22898539|PMID:24606448|PMID:25741868|PMID:26619011|PMID:26822784|PMID:27317772|PMID:28432085|PMID:28492532|PMID:28941052|PMID:29900417|PMID:30478443|PMID:31620784|PMID:31961069 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:9005172 Lung Neoplasms ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:9005184 Heyn-Sproul-Jackson Syndrome ISO RGD:1606038 D RGD:7240710 20200226 OMIM 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:9005184 Heyn-Sproul-Jackson Syndrome ISO RGD:1606038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heyn-Sproul-Jackson syndrome PMID:11836534|PMID:15456878|PMID:25741868|PMID:26912663|PMID:28492532|PMID:30478443 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:9005603 Muscle Hypotonia ISO RGD:1606038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:25741868 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:9006257 Growth Disorders ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24614070|PMID:30478443 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:9006534 Nervous System Malformations ISO RGD:1606038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:21067377|PMID:21518476|PMID:22160010|PMID:22722925|PMID:22744846|PMID:22898539|PMID:24606448|PMID:24622842|PMID:24656771|PMID:25741868|PMID:26619011|PMID:26876596|PMID:27991732|PMID:28166811|PMID:28492532|PMID:28941052|PMID:30185810|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:34788385 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:9007661 Dwarfism ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30478443 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:9007702 Carcinogenesis disease_progression ISO RGD:1303336 D RGD:9068941 20200609 RGD PMID:21163286|REF_RGD_ID:9588222 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24614070 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:9008939 Breast Neoplasms ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22520950 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia ISO RGD:1606038 D RGD:7240710 20190315 OMIM 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia ISO RGD:1606038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:21067377|PMID:21518476|PMID:22160010|PMID:22722925|PMID:22744846|PMID:22898539|PMID:22898540|PMID:22898541|PMID:24606448|PMID:24622842|PMID:24656771|PMID:25741868|PMID:26619011|PMID:26822784|PMID:26876596|PMID:27317772|PMID:27991732|PMID:28166811|PMID:28432085|PMID:28492532|PMID:28941052|PMID:29900417|PMID:30185810|PMID:30478443|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:32581362|PMID:34788385 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1606038 D RGD:9068941 20200609 RGD DNA:hypomethylation: : PMID:26242829|REF_RGD_ID:11041121 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1606038 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R882 (human) PMID:24512939|REF_RGD_ID:11041123 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1606038 D RGD:9068941 20200609 RGD associated with Myelodysplastic Syndromes; DNA:mutations:cds: PMID:21415852|REF_RGD_ID:11041122 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1606038 D RGD:9068941 20200609 RGD DNA:mutation:: PMID:25609058|REF_RGD_ID:11041120 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:9538 multiple myeloma ISO RGD:1606038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1606038 D RGD:9068941 20200609 RGD DNA:mutations:exon, intron:p.R882(human) PMID:25242092|REF_RGD_ID:11041125 12316125 DNMT3A DNA methyltransferase 3 alpha gene DOID:9970 obesity ISO RGD:1606038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 12316125 Dnmt3a DNA methyltransferase 3A gene DOID:1596 depressive disorder ISO RGD:1620920 D RGD:9068941 20200609 RGD PMID:20729844|REF_RGD_ID:9589061 12316152 ARL16 ADP ribosylation factor like GTPase 16 gene DOID:630 genetic disease ISO RGD:1601700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316152 ARL16 ADP ribosylation factor like GTPase 16 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1601700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 12316172 H2BC2 H2B clustered histone 2 gene DOID:630 genetic disease ISO RGD:1352004 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316177 TLR5 toll like receptor 5 gene DOID:10457 Legionnaires' disease ISO RGD:1348706 D RGD:7240710 20230517 OMIM 12316177 TLR5 toll like receptor 5 gene DOID:10457 Legionnaires' disease ISO RGD:1348706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Legionnaire disease, susceptibility to PMID:14623910|PMID:16027372|PMID:23447684 12316177 TLR5 toll like receptor 5 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1331979 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (mouse) PMID:12763043|REF_RGD_ID:5129557 12316177 TLR5 toll like receptor 5 gene DOID:1485 cystic fibrosis ISO RGD:1348706 D RGD:9068941 20200609 RGD protein:increased expression:lung, sputum, neutrophil (human) PMID:18684966|REF_RGD_ID:5129506 12316177 TLR5 toll like receptor 5 gene DOID:1485 cystic fibrosis resistance ISO RGD:1348706 D RGD:9068941 20200609 RGD DNA:snp:cds:c.1174C>T rs5744168 (human) PMID:21068401|REF_RGD_ID:5129499 12316177 TLR5 toll like receptor 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1348706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12316177 TLR5 toll like receptor 5 gene DOID:1679 cystitis severity ISO RGD:1348706 D RGD:9068941 20200609 RGD DNA:nonsense mutation:cds:p.R392X (human) PMID:19543401|REF_RGD_ID:7246906 12316177 TLR5 toll like receptor 5 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1331979 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (mouse) PMID:18256364|REF_RGD_ID:7246909 12316177 TLR5 toll like receptor 5 gene DOID:3265 chronic granulomatous disease ISO RGD:1348706 D RGD:9068941 20200609 RGD protein:decreased expression:blood, neutrophil (human) PMID:18155283|REF_RGD_ID:5130865 12316177 TLR5 toll like receptor 5 gene DOID:5052 melioidosis ISO RGD:1348706 D RGD:7240710 20230517 OMIM 12316177 TLR5 toll like receptor 5 gene DOID:5052 melioidosis ISO RGD:1348706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melioidosis, resistance to PMID:14623910|PMID:16027372|PMID:23447684 12316177 TLR5 toll like receptor 5 gene DOID:630 genetic disease ISO RGD:1348706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316177 TLR5 toll like receptor 5 gene DOID:7147 ankylosing spondylitis ISO RGD:1348706 D RGD:9068941 20200609 RGD mRNA:increased expression:blood cell: PMID:20952467|REF_RGD_ID:7794744 12316177 TLR5 toll like receptor 5 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:631351 D RGD:9068941 20200609 RGD mRNA:decreased expression:ileum (rat) PMID:19608731|REF_RGD_ID:5128779 12316177 TLR5 toll like receptor 5 gene DOID:874 bacterial pneumonia ISO RGD:1331979 D RGD:9068941 20200609 RGD PMID:19801452|REF_RGD_ID:5129503 12316177 TLR5 toll like receptor 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284379 12316177 TLR5 toll like receptor 5 gene DOID:9003321 Bacterial Keratitis ISO RGD:1331979 D RGD:9068941 20200609 RGD associated with Serratia Infections; PMID:23033384|REF_RGD_ID:8662876 12316177 TLR5 toll like receptor 5 gene DOID:9005099 Salmonella Infections, Animal ISO RGD:631351 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:jejunum, colon (rat) PMID:20529359|REF_RGD_ID:5129497 12316177 TLR5 toll like receptor 5 gene DOID:9005873 Tongue Neoplasms ISO RGD:1348706 D RGD:9068941 20200609 RGD protein:increased expression:tongue: PMID:23287987|REF_RGD_ID:7814374 12316177 TLR5 toll like receptor 5 gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:1348706 D RGD:9068941 20200609 RGD DNA:snp:cds:p.F616L rs5744174 (human) PMID:19258923|REF_RGD_ID:4142862 12316177 TLR5 toll like receptor 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30508503 12316177 TLR5 toll like receptor 5 gene DOID:9007417 Pseudomonas Infections ISO RGD:1331979 D RGD:9068941 20200609 RGD PMID:20566829|REF_RGD_ID:5129679 12316177 TLR5 toll like receptor 5 gene DOID:9008972 Hyperammonemia ISO RGD:1348706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30508503 12316177 TLR5 toll like receptor 5 gene DOID:9074 systemic lupus erythematosus ISO RGD:1348706 D RGD:7240710 20230517 OMIM 12316177 TLR5 toll like receptor 5 gene DOID:9074 systemic lupus erythematosus ISO RGD:1348706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, resistance to, 1 PMID:14623910|PMID:16027372|PMID:23447684 12316177 TLR5 toll like receptor 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12316185 TC2N tandem C2 domains, nuclear gene DOID:0080054 achondrogenesis type IA ISO RGD:1349748 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12316185 TC2N tandem C2 domains, nuclear gene DOID:630 genetic disease ISO RGD:1349748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316207 INSM2 INSM transcriptional repressor 2 gene DOID:630 genetic disease ISO RGD:1315853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316207 INSM2 INSM transcriptional repressor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1315853 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12316212 MBTD1 mbt domain containing 1 gene DOID:630 genetic disease ISO RGD:1348935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316232 LY6G6C lymphocyte antigen 6 family member G6C gene DOID:0050553 JMP syndrome ISO RGD:1344908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12316232 LY6G6C lymphocyte antigen 6 family member G6C gene DOID:630 genetic disease ISO RGD:1344908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316239 FAM167A family with sequence similarity 167 member A gene DOID:0111109 maturity-onset diabetes of the young type 11 ISO RGD:1344184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 11 PMID:19667185 12316239 FAM167A family with sequence similarity 167 member A gene DOID:630 genetic disease ISO RGD:1344184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316239 FAM167A family with sequence similarity 167 member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12316247 PPP1R27 protein phosphatase 1 regulatory subunit 27 gene DOID:630 genetic disease ISO RGD:1346366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316258 IGFBP4 insulin like growth factor binding protein 4 gene DOID:630 genetic disease ISO RGD:69043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316266 LOC609288 T cell receptor gamma variable 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12316266 LOC609288 T cell receptor gamma variable 4 gene DOID:630 genetic disease ISO RGD:1604885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316278 SPATS1 spermatogenesis associated serine rich 1 gene DOID:630 genetic disease ISO RGD:736705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316285 DKKL1 dickkopf like acrosomal protein 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1350645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12316285 DKKL1 dickkopf like acrosomal protein 1 gene DOID:630 genetic disease ISO RGD:1350645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316303 GAL3ST1 galactose-3-O-sulfotransferase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1350287 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12316303 GAL3ST1 galactose-3-O-sulfotransferase 1 gene DOID:630 genetic disease ISO RGD:1350287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316323 KDF1 keratinocyte differentiation factor 1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1602654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12316323 KDF1 keratinocyte differentiation factor 1 gene DOID:0111652 ectodermal dysplasia 12 ISO RGD:1602654 D RGD:7240710 20190315 OMIM 12316323 KDF1 keratinocyte differentiation factor 1 gene DOID:0111652 ectodermal dysplasia 12 ISO RGD:1602654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type PMID:27838789 12316323 KDF1 keratinocyte differentiation factor 1 gene DOID:13714 anodontia ISO RGD:1602654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Partial congenital absence of teeth 12316323 KDF1 keratinocyte differentiation factor 1 gene DOID:630 genetic disease ISO RGD:1602654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12316334 PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 gene DOID:0050952 spastic ataxia ISO RGD:1346928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 12316334 PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 gene DOID:0060557 ataxia with oculomotor apraxia type 3 ISO RGD:1346928 D RGD:7240710 20180130 OMIM 12316334 PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 gene DOID:0060557 ataxia with oculomotor apraxia type 3 ISO RGD:1346928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3 PMID:22065524|PMID:25741868|PMID:28492532|PMID:33116287 12316334 PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 gene DOID:219 colon cancer ISO RGD:1346928 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:15123805|REF_RGD_ID:13432047 12316334 PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 gene DOID:630 genetic disease ISO RGD:1346928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12316365 PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1347426 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 12316365 PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 gene DOID:0080600 COVID-19 ISO RGD:1347426 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12316365 PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 gene DOID:0080600 COVID-19 ISO RGD:1347426 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12316365 PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 gene DOID:0111988 immunodeficiency 12 ISO RGD:1347426 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 12316365 PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 gene DOID:303 substance-related disorder ISO RGD:1347426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12316365 PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 gene DOID:630 genetic disease ISO RGD:1347426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316365 PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1347426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770605 12316371 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12316371 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 12316371 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12316371 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12316371 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12316371 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12316371 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 12316371 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:0111112 nephronophthisis 1 ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 12316371 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:0111295 generalized epilepsy with febrile seizures plus 7 ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12316371 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12316371 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:12712 nephronophthisis ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 12316371 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial neonatal seizures PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12316371 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:1826 epilepsy ISO RGD:1605039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 12316371 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:303 substance-related disorder ISO RGD:1605039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12316371 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:630 genetic disease ISO RGD:1605039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316371 CSRNP3 cysteine and serine rich nuclear protein 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:1605039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12316383 ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1318322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12316383 ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 gene DOID:13501 Moebius syndrome ISO RGD:1318322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 12316383 ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 gene DOID:5419 schizophrenia ISO RGD:1318322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12316383 ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 gene DOID:630 genetic disease ISO RGD:1318322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316383 ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318322 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12316383 ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1318322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12316383 ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12316383 ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 gene DOID:9007661 Dwarfism ISO RGD:1318322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12316400 RRP9 ribosomal RNA processing 9, U3 small nucleolar RNA binding protein gene DOID:630 genetic disease ISO RGD:1317332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316400 RRP9 ribosomal RNA processing 9, U3 small nucleolar RNA binding protein gene DOID:9000217 Stomach Neoplasms ISO RGD:1317332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12316400 RRP9 ribosomal RNA processing 9, U3 small nucleolar RNA binding protein gene DOID:9000918 Disease Progression ISO RGD:1317332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12316506 STK25 serine/threonine kinase 25 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1342524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12316506 STK25 serine/threonine kinase 25 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1342524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12316506 STK25 serine/threonine kinase 25 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1342524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12316506 STK25 serine/threonine kinase 25 gene DOID:1059 intellectual disability ISO RGD:1342524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12316506 STK25 serine/threonine kinase 25 gene DOID:630 genetic disease ISO RGD:1342524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316506 STK25 serine/threonine kinase 25 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1342524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12316525 UBA6 ubiquitin like modifier activating enzyme 6 gene DOID:630 genetic disease ISO RGD:1605374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316525 UBA6 ubiquitin like modifier activating enzyme 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12316566 TTI1 TELO2 interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:1605708 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:36724785 12316566 TTI1 TELO2 interacting protein 1 gene DOID:2234 focal epilepsy ISO RGD:1605708 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12316566 TTI1 TELO2 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1605708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316578 EPB41L3 erythrocyte membrane protein band 4.1 like 3 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:732325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12316578 EPB41L3 erythrocyte membrane protein band 4.1 like 3 gene DOID:1059 intellectual disability ISO RGD:732325 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12316578 EPB41L3 erythrocyte membrane protein band 4.1 like 3 gene DOID:1324 lung cancer ISO RGD:732325 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12316578 EPB41L3 erythrocyte membrane protein band 4.1 like 3 gene DOID:3565 meningioma ISO RGD:732325 D RGD:9068941 20200609 RGD PMID:10888600|REF_RGD_ID:1300356 12316578 EPB41L3 erythrocyte membrane protein band 4.1 like 3 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:732325 D RGD:9068941 20220331 RGD DNA:hypermethylation PMID:25050929|REF_RGD_ID:151665741 12316578 EPB41L3 erythrocyte membrane protein band 4.1 like 3 gene DOID:630 genetic disease ISO RGD:732325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316578 EPB41L3 erythrocyte membrane protein band 4.1 like 3 gene DOID:9008939 Breast Neoplasms ISO RGD:732325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17260099 12316669 CXXC1 CXXC finger protein 1 gene DOID:1059 intellectual disability ISO RGD:1321844 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12316669 CXXC1 CXXC finger protein 1 gene DOID:630 genetic disease ISO RGD:1321844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316689 ACTL7B actin like 7B gene DOID:630 genetic disease ISO RGD:1313810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316701 ACTN3 actinin alpha 3 gene DOID:1059 intellectual disability ISO RGD:734136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12316701 ACTN3 actinin alpha 3 gene DOID:630 genetic disease ISO RGD:734136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316701 ACTN3 actinin alpha 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:734136 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12316701 ACTN3 actinin alpha 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:734136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12316732 BCAM basal cell adhesion molecule gene DOID:630 genetic disease ISO RGD:68545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316751 CDCP1 CUB domain containing protein 1 gene DOID:2661 myoepithelioma ISO RGD:1601855 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12316751 CDCP1 CUB domain containing protein 1 gene DOID:303 substance-related disorder ISO RGD:1601855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12316751 CDCP1 CUB domain containing protein 1 gene DOID:630 genetic disease ISO RGD:1601855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316766 F2RL3 F2R like thrombin or trypsin receptor 3 gene DOID:13580 cholestasis ISO RGD:1351365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20974703 12316766 F2RL3 F2R like thrombin or trypsin receptor 3 gene DOID:630 genetic disease ISO RGD:1351365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316766 F2RL3 F2R like thrombin or trypsin receptor 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20974703 12316766 F2RL3 F2R like thrombin or trypsin receptor 3 gene DOID:914 peliosis hepatis ISO RGD:1351365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20974703 12316775 LACTB2 lactamase beta 2 gene DOID:630 genetic disease ISO RGD:1317324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316786 BTLA B and T lymphocyte associated gene DOID:630 genetic disease ISO RGD:1350737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316800 SLC37A4 solute carrier family 37 member 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1351082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12316800 SLC37A4 solute carrier family 37 member 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1351082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12316800 SLC37A4 solute carrier family 37 member 4 gene DOID:0080690 RASopathy ISO RGD:1351082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12316800 SLC37A4 solute carrier family 37 member 4 gene DOID:0081329 glycogen storage disease I ISO RGD:1351082 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency | ClinVar Annotator: match by term: Glycogen storage disease, type I PMID:10482962|PMID:10923042|PMID:10940311|PMID:12444104|PMID:15669677|PMID:15757503|PMID:17994282|PMID:20578944|PMID:22899091|PMID:25741868|PMID:26913919|PMID:28492532|PMID:28685844|PMID:9758626 12316800 SLC37A4 solute carrier family 37 member 4 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1351082 D RGD:7240710 20180130 OMIM 12316800 SLC37A4 solute carrier family 37 member 4 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1351082 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GSD Ib | ClinVar Annotator: match by term: Glucose-6-phosphate transport defect | ClinVar Annotator: match by term: Glycogen storage disease Ib PMID:10026167|PMID:10323254|PMID:10482875|PMID:10482962|PMID:10508514|PMID:10518030|PMID:10874322|PMID:10923042|PMID:10931421|PMID:10940311|PMID:11071391|PMID:11949931|PMID:12373566|PMID:12409273|PMID:12444104|PMID:15059622|PMID:15260472|PMID:15669677|PMID:15757503|PMID:15906092|PMID:15953877|PMID:16199547|PMID:16716283|PMID:17307551|PMID:17576681|PMID:17994282|PMID:18337460|PMID:18437526|PMID:18835800|PMID:18996862|PMID:19454374|PMID:20301489|PMID:20386986|PMID:20578944|PMID:21575371|PMID:21629566|PMID:21659346|PMID:21983240|PMID:22899091|PMID:23810759|PMID:24033266|PMID:24385852|PMID:24565827|PMID:24646511|PMID:24745989|PMID:25308557|PMID:25741868|PMID:25881301|PMID:25982172|PMID:26913919|PMID:27848944|PMID:28224773|PMID:28394482|PMID:28492532|PMID:28685844|PMID:29119402|PMID:29146883|PMID:29549044|PMID:29581464|PMID:30290665|PMID:31508908|PMID:31617422|PMID:32300528|PMID:32374048|PMID:32884905|PMID:33083013|PMID:33728255|PMID:33731098|PMID:33964207|PMID:33977030|PMID:3728255|PMID:9428641|PMID:9536098|PMID:9598717|PMID:9675154|PMID:9758626|PMID:9781688 12316800 SLC37A4 solute carrier family 37 member 4 gene DOID:0081331 glycogen storage disease Ic ISO RGD:1351082 D RGD:7240710 20180130 OMIM 12316800 SLC37A4 solute carrier family 37 member 4 gene DOID:0081331 glycogen storage disease Ic ISO RGD:1351082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GSD Ic PMID:10026167|PMID:10323254|PMID:10482962|PMID:10508514|PMID:10518030|PMID:10923042|PMID:10931421|PMID:10940311|PMID:11071391|PMID:11949931|PMID:12373566|PMID:12444104|PMID:15059622|PMID:15669677|PMID:15757503|PMID:15906092|PMID:15953877|PMID:17307551|PMID:17576681|PMID:18337460|PMID:18835800|PMID:18996862|PMID:20301489|PMID:20578944|PMID:21575371|PMID:21629566|PMID:22899091|PMID:23810759|PMID:24033266|PMID:24385852|PMID:24565827|PMID:24646511|PMID:25741868|PMID:25982172|PMID:26913919|PMID:28224773|PMID:28394482|PMID:28492532|PMID:32374048|PMID:32884905|PMID:33728255|PMID:33964207|PMID:33977030|PMID:3728255|PMID:9428641|PMID:9536098|PMID:9598717|PMID:9675154|PMID:9758626|PMID:9781688 12316800 SLC37A4 solute carrier family 37 member 4 gene DOID:0110651 long QT syndrome 10 ISO RGD:1351082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12316800 SLC37A4 solute carrier family 37 member 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1351082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12316800 SLC37A4 solute carrier family 37 member 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:1351082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12316800 SLC37A4 solute carrier family 37 member 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:1351082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12316800 SLC37A4 solute carrier family 37 member 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:1351082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12316800 SLC37A4 solute carrier family 37 member 4 gene DOID:2747 glycogen storage disease ISO RGD:1351082 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease PMID:10026167|PMID:10323254|PMID:10482962|PMID:10923042|PMID:10940311|PMID:15953877|PMID:20301489|PMID:22899091|PMID:24033266|PMID:24646511|PMID:25741868|PMID:26913919|PMID:28224773|PMID:28492532|PMID:9758626|PMID:9781688 12316800 SLC37A4 solute carrier family 37 member 4 gene DOID:2749 glycogen storage disease Ia ISO RGD:1351082 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Hepatorenal glycogenosis PMID:20578944|PMID:25741868|PMID:28492532 12316800 SLC37A4 solute carrier family 37 member 4 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1351082 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:25741868|PMID:32884905|PMID:33728255|PMID:33964207|PMID:3728255 12316800 SLC37A4 solute carrier family 37 member 4 gene DOID:5419 schizophrenia ISO RGD:1351082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12316800 SLC37A4 solute carrier family 37 member 4 gene DOID:630 genetic disease ISO RGD:1351082 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10026167|PMID:10323254|PMID:10482962|PMID:10923042|PMID:10940311|PMID:15953877|PMID:20301489|PMID:22899091|PMID:24033266|PMID:24646511|PMID:25741868|PMID:26913919|PMID:28224773|PMID:28492532|PMID:9758626|PMID:9781688 12316800 SLC37A4 solute carrier family 37 member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 12316800 SLC37A4 solute carrier family 37 member 4 gene DOID:9002132 Congenital Disorder of Glycosylation Type IIw ISO RGD:1351082 D RGD:7240710 20210929 OMIM 12316800 SLC37A4 solute carrier family 37 member 4 gene DOID:9002132 Congenital Disorder of Glycosylation Type IIw ISO RGD:1351082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIw | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIw PMID:10026167|PMID:10323254|PMID:10482962|PMID:10508514|PMID:10518030|PMID:10923042|PMID:10931421|PMID:10940311|PMID:11071391|PMID:11949931|PMID:12373566|PMID:12444104|PMID:15059622|PMID:15669677|PMID:15906092|PMID:15953877|PMID:17307551|PMID:17576681|PMID:18337460|PMID:18835800|PMID:20301489|PMID:21575371|PMID:21629566|PMID:22899091|PMID:23810759|PMID:24033266|PMID:24385852|PMID:24565827|PMID:24646511|PMID:25741868|PMID:25982172|PMID:26913919|PMID:28224773|PMID:28394482|PMID:28492532|PMID:32884905|PMID:33728255|PMID:33964207|PMID:3728255|PMID:9428641|PMID:9536098|PMID:9675154|PMID:9758626|PMID:9781688 12316800 SLC37A4 solute carrier family 37 member 4 gene DOID:9002258 Glucose-6-Phosphate Translocase Deficiency ISO RGD:1351082 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate translocase deficiency PMID:10508514|PMID:10940311|PMID:12444104|PMID:15906092|PMID:23810759|PMID:25741868|PMID:28394482|PMID:28492532|PMID:9781688 12316800 SLC37A4 solute carrier family 37 member 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12316800 SLC37A4 solute carrier family 37 member 4 gene DOID:9005369 Hepatomegaly ISO RGD:1351082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatomegaly PMID:10923042|PMID:12444104|PMID:15669677|PMID:17994282|PMID:26913919|PMID:28492532|PMID:28685844 12316800 SLC37A4 solute carrier family 37 member 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62066 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:10567346|REF_RGD_ID:1625641 12316800 SLC37A4 solute carrier family 37 member 4 gene DOID:9007661 Dwarfism ISO RGD:1351082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12316823 SFTA2 surfactant associated 2 gene DOID:0050553 JMP syndrome ISO RGD:1347220 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12316823 SFTA2 surfactant associated 2 gene DOID:11372 megacolon ISO RGD:1347220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12316823 SFTA2 surfactant associated 2 gene DOID:630 genetic disease ISO RGD:1347220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316830 WDR5 WD repeat domain 5 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1349800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12316830 WDR5 WD repeat domain 5 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1349800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12316830 WDR5 WD repeat domain 5 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1349800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12316830 WDR5 WD repeat domain 5 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1349800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12316830 WDR5 WD repeat domain 5 gene DOID:0081097 Rafiq syndrome ISO RGD:1349800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12316830 WDR5 WD repeat domain 5 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1349800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12316830 WDR5 WD repeat domain 5 gene DOID:1682 congenital heart disease ISO RGD:1349800 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Congenital heart disease 12316830 WDR5 WD repeat domain 5 gene DOID:3652 Leigh disease ISO RGD:1349800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12316830 WDR5 WD repeat domain 5 gene DOID:630 genetic disease ISO RGD:1349800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316860 RBM12 RNA binding motif protein 12 gene DOID:0080281 schizophrenia 19 ISO RGD:1343633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia 19 PMID:28628109 12316860 RBM12 RNA binding motif protein 12 gene DOID:0080281 schizophrenia 19 susceptibility ISO RGD:1343633 D RGD:7240710 20190502 OMIM 12316860 RBM12 RNA binding motif protein 12 gene DOID:2468 psychotic disorder ISO RGD:1343633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28628109 12316860 RBM12 RNA binding motif protein 12 gene DOID:630 genetic disease ISO RGD:1343633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316868 TCEAL4 transcription elongation factor A (SII)-like 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12316868 TCEAL4 transcription elongation factor A (SII)-like 4 gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:1351026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 PMID:10417279|PMID:16380909|PMID:18160035|PMID:19328639|PMID:28492532|PMID:9634530 12316868 TCEAL4 transcription elongation factor A (SII)-like 4 gene DOID:12849 autistic disorder ISO RGD:1351026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12316868 TCEAL4 transcription elongation factor A (SII)-like 4 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1351026 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:31690835|PMID:9633722|PMID:9634530 12316868 TCEAL4 transcription elongation factor A (SII)-like 4 gene DOID:630 genetic disease ISO RGD:1351026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316868 TCEAL4 transcription elongation factor A (SII)-like 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1351026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12316878 THEGL theg spermatid protein like gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:5688605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:28492532 12316899 RFX7 regulatory factor X7 gene DOID:10907 microcephaly ISO RGD:1603966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12316899 RFX7 regulatory factor X7 gene DOID:2717 Bloom syndrome ISO RGD:1603966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12316899 RFX7 regulatory factor X7 gene DOID:630 genetic disease ISO RGD:1603966 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:33658631 12316899 RFX7 regulatory factor X7 gene DOID:9004011 Autosomal Dominant Intellectual Developmental Disorder 71 ISO RGD:1603966 D RGD:7240710 20230505 OMIM 12316899 RFX7 regulatory factor X7 gene DOID:9004011 Autosomal Dominant Intellectual Developmental Disorder 71 ISO RGD:1603966 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities PMID:25741868|PMID:33584783|PMID:33658631|PMID:36334883 12316899 RFX7 regulatory factor X7 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1603966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12316899 RFX7 regulatory factor X7 gene DOID:9256 colorectal cancer ISO RGD:1603966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12316942 GALR1 galanin receptor 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:735654 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12316942 GALR1 galanin receptor 1 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:735654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 12316942 GALR1 galanin receptor 1 gene DOID:1470 major depressive disorder ISO RGD:735654 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:27940914 12316942 GALR1 galanin receptor 1 gene DOID:630 genetic disease ISO RGD:735654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316942 GALR1 galanin receptor 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:735654 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12316942 GALR1 galanin receptor 1 gene DOID:8445 intestinal volvulus ISO RGD:735654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12316942 GALR1 galanin receptor 1 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:735654 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 12316942 GALR1 galanin receptor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12316942 GALR1 galanin receptor 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:735654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12316942 GALR1 galanin receptor 1 gene DOID:9970 obesity no_association ISO RGD:735654 D RGD:9068941 20210122 RGD PMID:15930442|REF_RGD_ID:1625748 12316948 TPMT thiopurine S-methyltransferase gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:1350168 D RGD:9068941 20200609 RGD PMID:17026564|REF_RGD_ID:11038726 12316948 TPMT thiopurine S-methyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:1350168 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12316948 TPMT thiopurine S-methyltransferase gene DOID:0080172 thiopurine S-methyltransferase deficiency ISO RGD:1350168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thiopurine methyltransferase deficiency PMID:10208641|PMID:10751626|PMID:15819814|PMID:16476125|PMID:17885628|PMID:1960624|PMID:7862671|PMID:8561894|PMID:8644731|PMID:9177237|PMID:9246020|PMID:9931345|PMID:9931346 12316948 TPMT thiopurine S-methyltransferase gene DOID:1227 neutropenia ISO RGD:1350168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18662289 12316948 TPMT thiopurine S-methyltransferase gene DOID:3534 Lafora disease ISO RGD:1350168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lafora disease PMID:15781812|PMID:17389303|PMID:23317923|PMID:28492532 12316948 TPMT thiopurine S-methyltransferase gene DOID:615 leukopenia ISO RGD:1350168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18662289|PMID:22535280|PMID:25108385 12316948 TPMT thiopurine S-methyltransferase gene DOID:615 leukopenia ISO RGD:1350168 D RGD:9068941 20200609 RGD PMID:16044099|PMID:24322830|REF_RGD_ID:11038721|REF_RGD_ID:11038725 12316948 TPMT thiopurine S-methyltransferase gene DOID:615 leukopenia ISO RGD:1350168 D RGD:9068941 20200609 RGD DNA:SNP:exon:719A>G (human) PMID:20308917|REF_RGD_ID:11038727 12316948 TPMT thiopurine S-methyltransferase gene DOID:615 leukopenia no_association ISO RGD:1350168 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple PMID:20308917|REF_RGD_ID:11038727 12316948 TPMT thiopurine S-methyltransferase gene DOID:630 genetic disease ISO RGD:1350168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316948 TPMT thiopurine S-methyltransferase gene DOID:9004283 Transplant Rejection ISO RGD:1350168 D RGD:9068941 20200609 RGD PMID:24121523|REF_RGD_ID:11038722 12316948 TPMT thiopurine S-methyltransferase gene DOID:9004673 Hearing Loss, Cisplatin-Induced ISO RGD:1350168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19898482 12316948 TPMT thiopurine S-methyltransferase gene DOID:9006969 Poor Metabolism of Thiopurines, 1 ISO RGD:1350168 D RGD:7240710 20190327 OMIM 12316948 TPMT thiopurine S-methyltransferase gene DOID:987 alopecia ISO RGD:1350168 D RGD:9068941 20200609 RGD PMID:24322830|REF_RGD_ID:11038725 12316948 TPMT thiopurine S-methyltransferase gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:1350168 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:24499706|REF_RGD_ID:11038723 12316948 TPMT thiopurine S-methyltransferase gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:1350168 D RGD:9068941 20200609 RGD DNA:SNPs:introns:12356C>T, 16638C>T, 26354G>T (rs4449636, rs2518463, rs2842949) (human) PMID:22009189|REF_RGD_ID:10766474 12316948 TPMT thiopurine S-methyltransferase gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1350168 D RGD:9068941 20200609 RGD DNA:SNPs:exon:374C>T, 719A>G (rs2842934, rs1142345) (human) PMID:22009189|REF_RGD_ID:10766474 12316948 TPMT thiopurine S-methyltransferase gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1350168 D RGD:9068941 20200609 RGD DNA:SNPs:multiple PMID:17164697|REF_RGD_ID:11038720 12316971 RAB9A RAB9A, member RAS oncogene family gene DOID:0050777 Joubert syndrome ISO RGD:1350613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 12316971 RAB9A RAB9A, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:1350613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12316971 RAB9A RAB9A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1350613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12316971 RAB9A RAB9A, member RAS oncogene family gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12316987 TRAM1 translocation associated membrane protein 1 gene DOID:630 genetic disease ISO RGD:1346981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317009 TRMT112 tRNA methyltransferase activator subunit 11-2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12317009 TRMT112 tRNA methyltransferase activator subunit 11-2 gene DOID:1059 intellectual disability ISO RGD:1604820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12317009 TRMT112 tRNA methyltransferase activator subunit 11-2 gene DOID:3070 high grade glioma ISO RGD:1604820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12317009 TRMT112 tRNA methyltransferase activator subunit 11-2 gene DOID:630 genetic disease ISO RGD:1604820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317019 BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene DOID:0080580 3-Methylcrotonyl-CoA carboxylase 2 deficiency ISO RGD:1318324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency PMID:28492532 12317019 BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene DOID:0111637 autosomal recessive nonsyndromic deafness 112 ISO RGD:1318324 D RGD:7240710 20190315 OMIM 12317019 BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene DOID:0111637 autosomal recessive nonsyndromic deafness 112 ISO RGD:1318324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 112 PMID:24312468|PMID:25741868 12317019 BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene DOID:630 genetic disease ISO RGD:1318324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12317019 BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12317019 BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene DOID:9004538 Hearing Loss ISO RGD:1318324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 12317019 BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene DOID:9008681 Deafness ISO RGD:1318324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness 12317062 NECAP2 NECAP endocytosis associated 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603996 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12317062 NECAP2 NECAP endocytosis associated 2 gene DOID:10283 prostate cancer ISO RGD:1603996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12317062 NECAP2 NECAP endocytosis associated 2 gene DOID:630 genetic disease ISO RGD:1603996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317078 CCDC50 coiled-coil domain containing 50 gene DOID:0050746 mantle cell lymphoma ISO RGD:1606954 D RGD:9068941 20200609 RGD PMID:19641524|REF_RGD_ID:9685139 12317078 CCDC50 coiled-coil domain containing 50 gene DOID:0110569 autosomal dominant nonsyndromic deafness 44 ISO RGD:1606954 D RGD:7240710 20180130 OMIM 12317078 CCDC50 coiled-coil domain containing 50 gene DOID:0110569 autosomal dominant nonsyndromic deafness 44 ISO RGD:1606954 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 44 PMID:12483295|PMID:17503326|PMID:24033266|PMID:24875298|PMID:25741868|PMID:28492532|PMID:30311386 12317078 CCDC50 coiled-coil domain containing 50 gene DOID:5419 schizophrenia ISO RGD:1606954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12317078 CCDC50 coiled-coil domain containing 50 gene DOID:630 genetic disease ISO RGD:1606954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 12317078 CCDC50 coiled-coil domain containing 50 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1606954 D RGD:9068941 20200609 RGD PMID:19641524|REF_RGD_ID:9685139 12317097 DHRS7B dehydrogenase/reductase 7B gene DOID:630 genetic disease ISO RGD:1601764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317121 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:735608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 12317121 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:731513 D RGD:9068941 20200609 RGD protein:increased phosphorylation:hippocampus PMID:24315369|REF_RGD_ID:10395344 12317121 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:735608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17406652 12317121 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:735608 D RGD:9068941 20200609 RGD PMID:16691116|REF_RGD_ID:10395316 12317121 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:10652 Alzheimer's disease severity ISO RGD:735608 D RGD:9068941 20200609 RGD PMID:16954686|REF_RGD_ID:10395343 12317121 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:1561 cognitive disorder ISO RGD:735608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17406652 12317121 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:1824 status epilepticus ISO RGD:735608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15003282 12317121 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:224 transient cerebral ischemia ISO RGD:620963 D RGD:9068941 20200609 RGD associated with Heart Arrest PMID:10541873|REF_RGD_ID:11041881 12317121 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:224 transient cerebral ischemia ISO RGD:731513 D RGD:9068941 20200609 RGD PMID:11520898|REF_RGD_ID:10395353 12317121 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:3347 osteosarcoma ISO RGD:735608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14767549 12317121 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:620963 D RGD:9068941 20200609 RGD PMID:19763736|PMID:23669639|REF_RGD_ID:10395346|REF_RGD_ID:10755569 12317121 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:630 genetic disease ISO RGD:735608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317121 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:9000998 Brain Injuries ISO RGD:620963 D RGD:9068941 20200609 RGD PMID:11526986|REF_RGD_ID:10395358 12317121 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:620963 D RGD:9068941 20200609 RGD PMID:21059295|REF_RGD_ID:10395351 12317121 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:9002955 Nerve Degeneration ISO RGD:735608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16492139 12317121 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620963 D RGD:9068941 20200609 RGD PMID:8092984|REF_RGD_ID:10395352 12317121 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:9004009 Reperfusion Injury ISO RGD:620963 D RGD:9068941 20200609 RGD protein:increased phosphorylation:kidney PMID:15936177|REF_RGD_ID:1581062 12317121 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:9004484 Sepsis ISO RGD:620963 D RGD:9068941 20200609 RGD PMID:8141277|REF_RGD_ID:10395355 12317121 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:9008824 Sarcopenia ISO RGD:620963 D RGD:9068941 20200609 RGD PMID:15187001|REF_RGD_ID:10395315 12317133 SLC2A8 solute carrier family 2 member 8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:730862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12317133 SLC2A8 solute carrier family 2 member 8 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:730862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12317133 SLC2A8 solute carrier family 2 member 8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:730862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12317133 SLC2A8 solute carrier family 2 member 8 gene DOID:630 genetic disease ISO RGD:730862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317154 LONRF2 LON peptidase N-terminal domain and ring finger 2 gene DOID:630 genetic disease ISO RGD:1604220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317170 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1347066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 12317170 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1347066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12317170 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1347066 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12317170 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:12894 Sjogren's syndrome ISO RGD:1347066 D RGD:9068941 20200609 RGD PMID:19264855|REF_RGD_ID:10054311 12317170 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:630 genetic disease ISO RGD:1347066 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:27545675|PMID:29938792|PMID:32335897 12317170 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:684 hepatocellular carcinoma ISO RGD:1347066 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:23633480|REF_RGD_ID:9685423 12317170 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:9001205 Experimental Autoimmune Orchitis ISO RGD:620840 D RGD:9068941 20200609 RGD PMID:16092147|REF_RGD_ID:1624236 12317170 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 12317170 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:9006270 Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects ISO RGD:1347066 D RGD:7240710 20221102 OMIM 12317170 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:9006270 Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects ISO RGD:1347066 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects PMID:25741868|PMID:27545675|PMID:29938792|PMID:32335897 12317170 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:1347066 D RGD:9068941 20200609 RGD protein:decreased expression:colonic epithelium, nucleus (human) PMID:21194727|REF_RGD_ID:9999439 12317170 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:9008950 Syndromic X-Linked Mental Retardation, Bain Type ISO RGD:1347066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE PMID:25741868 12317199 STX7 syntaxin 7 gene DOID:630 genetic disease ISO RGD:737314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317220 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:0050451 Brugada syndrome ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:25741868 12317220 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:0050700 cardiomyopathy ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 12317220 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:1350483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15710580|PMID:15857929|PMID:16205844|PMID:17020904|PMID:17928445|PMID:18941776|PMID:20437590|PMID:20628201|PMID:206282012|PMID:21994374|PMID:22292491|PMID:22425777|PMID:23527921|PMID:23584539|PMID:24065921|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24747835|PMID:25741868|PMID:25827112|PMID:26467025|PMID:27216889|PMID:27277800|PMID:28331474|PMID:28492532|PMID:28717674|PMID:29056246|PMID:32466254|PMID:5421039|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 12317220 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:0080422 Dravet syndrome ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 12317220 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:0080455 developmental and epileptic encephalopathy 52 ISO RGD:1350483 D RGD:7240710 20190315 OMIM 12317220 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:0080455 developmental and epileptic encephalopathy 52 ISO RGD:1350483 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 52 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 52 PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15710580|PMID:15857929|PMID:16205844|PMID:17020904|PMID:17629415|PMID:17928445|PMID:18941776|PMID:19710327|PMID:19808477|PMID:20437590|PMID:20628201|PMID:206282012|PMID:21703448|PMID:21994374|PMID:22155597|PMID:22155598|PMID:22284586|PMID:22292491|PMID:22425777|PMID:22840528|PMID:23148524|PMID:23182416|PMID:23414114|PMID:23465283|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24065921|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24747835|PMID:25253298|PMID:25741868|PMID:25827112|PMID:26467025|PMID:26498160|PMID:27216889|PMID:27277800|PMID:27435932|PMID:27896052|PMID:28218389|PMID:28331474|PMID:28341588|PMID:28492532|PMID:28681755|PMID:28717674|PMID:28837624|PMID:29056246|PMID:29655203|PMID:29758173|PMID:31069529|PMID:31980526|PMID:32192759|PMID:32466254|PMID:5421039|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 12317220 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1350483 D RGD:7240710 20180130 OMIM 12317220 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1350483 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15671291|PMID:15710580|PMID:15857929|PMID:16199547|PMID:16205844|PMID:17020904|PMID:17576681|PMID:17604911|PMID:17629415|PMID:17928445|PMID:18464934|PMID:18941776|PMID:19522081|PMID:19710327|PMID:19808477|PMID:20226894|PMID:20437590|PMID:20628201|PMID:206282012|PMID:20662403|PMID:21040232|PMID:21703448|PMID:21994374|PMID:22155597|PMID:22155598|PMID:22247482|PMID:22284586|PMID:22292491|PMID:22425777|PMID:22840528|PMID:22987075|PMID:23182416|PMID:23414114|PMID:23465283|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24065921|PMID:24529773|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24662403|PMID:24747835|PMID:24848745|PMID:24981977|PMID:25253298|PMID:25668026|PMID:25741868|PMID:25827112|PMID:25998140|PMID:26042039|PMID:26129877|PMID:26467025|PMID:26498160|PMID:26704558|PMID:27207958|PMID:27216889|PMID:27277800|PMID:27435932|PMID:27707468|PMID:27896052|PMID:28074886|PMID:28331474|PMID:28341588|PMID:28449774|PMID:28488083|PMID:28492532|PMID:28600387|PMID:28681755|PMID:28717674|PMID:28726809|PMID:28837624|PMID:29056246|PMID:29358611|PMID:29572929|PMID:29655203|PMID:29758173|PMID:29915715|PMID:29924869|PMID:29992740|PMID:30182498|PMID:30660056|PMID:31069529|PMID:31465153|PMID:31709768|PMID:31729702|PMID:31737628|PMID:31980526|PMID:32192759|PMID:32369273|PMID:32466254|PMID:32613771|PMID:32651551|PMID:33552729|PMID:33901312|PMID:5421039|PMID:9461582|PMID:9536098|PMID:9539778|PMID:9697698|PMID:9894880 12317220 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1350483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12317220 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:0111302 generalized epilepsy with febrile seizures plus 1 ISO RGD:1350483 D RGD:7240710 20180130 OMIM 12317220 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:0111302 generalized epilepsy with febrile seizures plus 1 ISO RGD:1350483 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1 PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15671291|PMID:15710580|PMID:15857929|PMID:16205844|PMID:17020904|PMID:17604911|PMID:17629415|PMID:17928445|PMID:18941776|PMID:19522081|PMID:19710327|PMID:19808477|PMID:20226894|PMID:20437590|PMID:20628201|PMID:206282012|PMID:20662403|PMID:21703448|PMID:21994374|PMID:22155597|PMID:22155598|PMID:22284586|PMID:22292491|PMID:22425777|PMID:22840528|PMID:23182416|PMID:23414114|PMID:23465283|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24065921|PMID:24529773|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24662403|PMID:24747835|PMID:25253298|PMID:25668026|PMID:25741868|PMID:25827112|PMID:26042039|PMID:26467025|PMID:26498160|PMID:26704558|PMID:27216889|PMID:27277800|PMID:27435932|PMID:27896052|PMID:28218389|PMID:28331474|PMID:28341588|PMID:28492532|PMID:28681755|PMID:28717674|PMID:28837624|PMID:29056246|PMID:29655203|PMID:29758173|PMID:31069529|PMID:31465153|PMID:31709768|PMID:31980526|PMID:32192759|PMID:32369273|PMID:32466254|PMID:32651551|PMID:5421039|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 12317220 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:10273 heart conduction disease ISO RGD:1350483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conduction system disorder PMID:18464934 12317220 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:11832 visual epilepsy ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15671291|PMID:15710580|PMID:15857929|PMID:16205844|PMID:17020904|PMID:17928445|PMID:18941776|PMID:19522081|PMID:19710327|PMID:20226894|PMID:20437590|PMID:20628201|PMID:206282012|PMID:20662403|PMID:21994374|PMID:22292491|PMID:22425777|PMID:23182416|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24065921|PMID:24529773|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24662403|PMID:24747835|PMID:25253298|PMID:25326637|PMID:25668026|PMID:25741868|PMID:25827112|PMID:26042039|PMID:26467025|PMID:27207958|PMID:27216889|PMID:27277800|PMID:28331474|PMID:28492532|PMID:28837624|PMID:5421039|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 12317220 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:1825 childhood absence epilepsy ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood absence epilepsy PMID:25741868|PMID:28492532 12317220 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:1826 epilepsy ISO RGD:1350483 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15671291|PMID:15710580|PMID:15857929|PMID:16205844|PMID:17020904|PMID:17928445|PMID:18941776|PMID:19522081|PMID:19710327|PMID:20226894|PMID:20437590|PMID:20628201|PMID:206282012|PMID:20662403|PMID:21994374|PMID:22292491|PMID:22425777|PMID:23182416|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24065921|PMID:24529773|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24662403|PMID:24747835|PMID:25253298|PMID:25668026|PMID:25741868|PMID:25827112|PMID:26042039|PMID:26467025|PMID:27207958|PMID:27216889|PMID:27277800|PMID:28331474|PMID:28492532|PMID:28717674|PMID:28837624|PMID:29056246|PMID:32466254|PMID:5421039|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 12317220 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:1826 epilepsy ISO RGD:1350483 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure PMID:15671291|PMID:19522081|PMID:19710327|PMID:20226894|PMID:20662403|PMID:23861362|PMID:24529773|PMID:24662403|PMID:25253298|PMID:25668026|PMID:25741868|PMID:26042039|PMID:26467025|PMID:27207958|PMID:28492532 12317220 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:1826 epilepsy ISO RGD:1350483 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Seizure PMID:15671291|PMID:19522081|PMID:19710327|PMID:20226894|PMID:20662403|PMID:23861362|PMID:24529773|PMID:24662403|PMID:25253298|PMID:25668026|PMID:25741868|PMID:26042039|PMID:26467025|PMID:27207958|PMID:28492532|PMID:28681755 12317220 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:2843 long QT syndrome ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:15671291|PMID:19522081|PMID:23861362|PMID:24529773|PMID:25668026|PMID:25741868|PMID:26042039|PMID:26467025|PMID:28492532 12317220 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1350483 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611|PMID:29758173 12317220 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:630 genetic disease ISO RGD:1350483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12011299|PMID:19522081|PMID:24662403|PMID:25741868|PMID:28492532|PMID:29992740|PMID:31737628|PMID:9461582|PMID:9697698 12317220 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23861362|PMID:24033266|PMID:28492532 12317220 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:22987075|PMID:23861362|PMID:28492532|PMID:28600387 12317220 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:9000543 Death ISO RGD:1350483 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Death in early adulthood PMID:19808477|PMID:24033266|PMID:24055113|PMID:25741868|PMID:27435932|PMID:28492532 12317220 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:9002996 Familial Atrial Fibrillation 13 ISO RGD:1350483 D RGD:7240710 20180130 OMIM 12317220 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:9002996 Familial Atrial Fibrillation 13 ISO RGD:1350483 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 13 PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15710580|PMID:15857929|PMID:16205844|PMID:17020904|PMID:17629415|PMID:17928445|PMID:18941776|PMID:19710327|PMID:19808477|PMID:20437590|PMID:20628201|PMID:206282012|PMID:21703448|PMID:21994374|PMID:22155597|PMID:22155598|PMID:22284586|PMID:22292491|PMID:22425777|PMID:22840528|PMID:23182416|PMID:23414114|PMID:23465283|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24065921|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24747835|PMID:25253298|PMID:25741868|PMID:25827112|PMID:26467025|PMID:26498160|PMID:27216889|PMID:27277800|PMID:27435932|PMID:27896052|PMID:28331474|PMID:28341588|PMID:28492532|PMID:28681755|PMID:28717674|PMID:28837624|PMID:29056246|PMID:29655203|PMID:29758173|PMID:31069529|PMID:31980526|PMID:32192759|PMID:32466254|PMID:5421039|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 12317220 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:9007 sudden infant death syndrome ISO RGD:1350483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22155597 12317220 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:9007956 Febrile Seizures ISO RGD:1350483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25362483 12317220 SCN1B sodium voltage-gated channel beta subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3631 D RGD:9068941 20200609 RGD mRNA:increased expression:heart ventricle PMID:22581745|REF_RGD_ID:6484255 12317228 RPS24 ribosomal protein S24 gene DOID:0060794 hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:734142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy PMID:22855961|PMID:25741868|PMID:27029625 12317228 RPS24 ribosomal protein S24 gene DOID:0111887 Diamond-Blackfan anemia 3 ISO RGD:734142 D RGD:7240710 20180130 OMIM 12317228 RPS24 ribosomal protein S24 gene DOID:0111887 Diamond-Blackfan anemia 3 ISO RGD:734142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 PMID:17186470|PMID:20960466|PMID:23812780|PMID:25741868|PMID:26845104|PMID:27329125|PMID:28492532|PMID:29748317|PMID:30228860 12317228 RPS24 ribosomal protein S24 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:734142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:17186470|PMID:17576681|PMID:19689926|PMID:20960466|PMID:22855961|PMID:25741868|PMID:26136524|PMID:27029625|PMID:28492532|PMID:29748317|PMID:9536098 12317228 RPS24 ribosomal protein S24 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:734142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 12317247 RHOG ras homolog family member G gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12317247 RHOG ras homolog family member G gene DOID:0060354 Stormorken syndrome ISO RGD:1316030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stormorken syndrome PMID:28492532 12317247 RHOG ras homolog family member G gene DOID:0080773 delta beta-thalassemia ISO RGD:1316030 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12317247 RHOG ras homolog family member G gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12317247 RHOG ras homolog family member G gene DOID:630 genetic disease ISO RGD:1316030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:9614181 12317252 COX4I2 cytochrome c oxidase subunit 4I2 gene DOID:630 genetic disease ISO RGD:735839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317252 COX4I2 cytochrome c oxidase subunit 4I2 gene DOID:9005288 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis ISO RGD:735839 D RGD:7240710 20180130 OMIM 12317252 COX4I2 cytochrome c oxidase subunit 4I2 gene DOID:9005288 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis ISO RGD:735839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis PMID:19268275|PMID:25741868|PMID:28492532 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1345647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:23329068|PMID:23453664|PMID:23959892|PMID:24009516|PMID:24033266|PMID:25047097|PMID:25099625|PMID:25607374|PMID:25620558|PMID:25741868|PMID:26025130|PMID:28099038|PMID:28492532 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:0050671 female breast cancer susceptibility ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:missense mutation:cds: (human) PMID:30303537|REF_RGD_ID:152995259 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1345647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1345647 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:17576681|PMID:25741868|PMID:28492532|PMID:29344583|PMID:30523342|PMID:9536098 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:0070020 autosomal dominant dyskeratosis congenita 4 ISO RGD:1345647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 4 PMID:23329068|PMID:23453664|PMID:23959892|PMID:25607374|PMID:25741868|PMID:27128385|PMID:28099038|PMID:28492532|PMID:28930861 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1345647 D RGD:7240710 20180130 OMIM 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1345647 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:16199547|PMID:17576681|PMID:19461895|PMID:19822871|PMID:23329068|PMID:23453664|PMID:23591994|PMID:23692823|PMID:23729807|PMID:23829372|PMID:23959892|PMID:24009516|PMID:24033266|PMID:24582487|PMID:25047097|PMID:25099625|PMID:25182133|PMID:25607374|PMID:25620558|PMID:25640679|PMID:25741868|PMID:25848748|PMID:26022962|PMID:26025130|PMID:26136524|PMID:26808564|PMID:26847928|PMID:27128385|PMID:27415407|PMID:27418648|PMID:27540018|PMID:27779742|PMID:27824607|PMID:28099038|PMID:28192371|PMID:28492532|PMID:28495916|PMID:28507545|PMID:28930861|PMID:28979815|PMID:29344583|PMID:29361909|PMID:29891356|PMID:29981437|PMID:30303537|PMID:30462709|PMID:30523160|PMID:30523342|PMID:30995915|PMID:31268371|PMID:32662942|PMID:34021146|PMID:9536098 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:0070025 X-linked dyskeratosis congenita ISO RGD:1345647 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, X-linked PMID:17576681|PMID:23959892|PMID:26847928|PMID:28492532|PMID:9536098 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1345647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1345647 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:0111444 progressive myoclonus epilepsy 4 ISO RGD:1345647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome PMID:25741868 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:SNP:cds:rs2297441|rs3208008 (human) PMID:31762827|REF_RGD_ID:152995257 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:10325 silicosis ISO RGD:1306721 D RGD:9068941 20220609 RGD mRNA:decreased expression:lung (rat) PMID:29230030|REF_RGD_ID:152977761 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:10907 microcephaly ISO RGD:1345647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:1324 lung cancer ameliorates ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:SNP:cds:rs2738789 (human) PMID:27765928|REF_RGD_ID:152993553 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:1324 lung cancer susceptibility ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:SNP:cds:rs7261546|rs6062299|rs3787098 (human) PMID:27765928|REF_RGD_ID:152993553 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1345647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:1909 melanoma ISO RGD:1345647 D RGD:9068941 20220610 RGD DNA:SNP:cds:rs75691080 (human) PMID:25231748|REF_RGD_ID:152995261 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1345647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:16199547|PMID:17576681|PMID:19461895|PMID:23329068|PMID:23453664|PMID:23829372|PMID:23959892|PMID:24009516|PMID:24033266|PMID:24582487|PMID:25047097|PMID:25099625|PMID:25607374|PMID:25620558|PMID:25741868|PMID:25848748|PMID:26022962|PMID:26025130|PMID:26136524|PMID:26808564|PMID:27128385|PMID:27415407|PMID:27418648|PMID:27824607|PMID:28099038|PMID:28492532|PMID:28495916|PMID:28507545|PMID:28930861|PMID:28979815|PMID:29344583|PMID:29361909|PMID:29891356|PMID:29981437|PMID:30303537|PMID:30462709|PMID:30523342|PMID:30995915|PMID:31268371|PMID:34021146|PMID:9536098 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:3070 high grade glioma ISO RGD:1345647 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578366|PMID:19578367 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:3079 childhood astrocytic tumor ameliorates ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:SNP:cds:rs6089953|rs6010620|rs2297440 (human) PMID:26014354|REF_RGD_ID:152985535 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:3079 childhood astrocytic tumor susceptibility ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:SNP:cds:rs4809324 (human) PMID:26014354|REF_RGD_ID:152985535 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:3083 chronic obstructive pulmonary disease ameliorates ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:SNP:cds:rs4809324 (human) PMID:28360516|REF_RGD_ID:152985694 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:3717 gastric adenocarcinoma susceptibility ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:amplification:cds: (human) PMID:27366209|REF_RGD_ID:152995256 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1345647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:23329068|PMID:23453664|PMID:23959892|PMID:24033266|PMID:25047097|PMID:25607374|PMID:25741868|PMID:25848748|PMID:27128385|PMID:27540018|PMID:28099038|PMID:28192371|PMID:28492532|PMID:28930861|PMID:29361909 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:5076 mixed glioma susceptibility ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:SNPs:multiple:multiple (human) PMID:30462709|REF_RGD_ID:152977767 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:630 genetic disease ISO RGD:1345647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23453664|PMID:23959892|PMID:24009516|PMID:24033266|PMID:25047097|PMID:25099625|PMID:25607374|PMID:25620558|PMID:25741868|PMID:26025130|PMID:26847928|PMID:28492532|PMID:29344583|PMID:30523342|PMID:31268371|PMID:9536098 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:9000528 Coronary Disease ameliorates ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:SNP:cds:rs6010620|rs4809324 (human) PMID:30623606|REF_RGD_ID:152985693 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:9001272 Hoyeraal Hreidarsson Syndrome ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human) PMID:23959892|REF_RGD_ID:152977765 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1345647 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28604730 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1345647 D RGD:7240710 20180130 OMIM 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1345647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23329068|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24009516|PMID:24033266|PMID:24130156|PMID:24582487|PMID:25047097|PMID:25099625|PMID:25607374|PMID:25620558|PMID:25741868|PMID:25848748|PMID:26022962|PMID:26025130|PMID:27779742|PMID:28492532|PMID:29344583|PMID:30523342 12317265 RTEL1 regulator of telomere elongation helicase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1345647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868 12317324 ZNF366 zinc finger protein 366 gene DOID:0080600 COVID-19 ISO RGD:1314635 D RGD:9068941 20220523 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12317324 ZNF366 zinc finger protein 366 gene DOID:11198 DiGeorge syndrome ISO RGD:1616531 D RGD:9068941 20220825 MouseDO OMIM:188400 12317324 ZNF366 zinc finger protein 366 gene DOID:303 substance-related disorder ISO RGD:1314635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12317324 ZNF366 zinc finger protein 366 gene DOID:630 genetic disease ISO RGD:1314635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317324 ZNF366 zinc finger protein 366 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12317324 ZNF366 zinc finger protein 366 gene DOID:9008939 Breast Neoplasms ISO RGD:1314635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008677 12317324 ZNF366 zinc finger protein 366 gene DOID:9008939 Breast Neoplasms ISO RGD:1616531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21122099 12317336 CCDC102A coiled-coil domain containing 102A gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605307 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12317336 CCDC102A coiled-coil domain containing 102A gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605307 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12317336 CCDC102A coiled-coil domain containing 102A gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12317336 CCDC102A coiled-coil domain containing 102A gene DOID:630 genetic disease ISO RGD:1605307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317350 GUCA1C guanylate cyclase activator 1C gene DOID:11372 megacolon ISO RGD:1350559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12317350 GUCA1C guanylate cyclase activator 1C gene DOID:630 genetic disease ISO RGD:1350559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317357 CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1321035 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:17460697|PMID:17463246|PMID:17463248|PMID:17463249|PMID:24760768 12317357 CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 gene DOID:11714 gestational diabetes ISO RGD:1321035 D RGD:9068941 20200609 RGD DNA:snp: :rs7756992,rs7754840(human) PMID:19002430|REF_RGD_ID:2313946 12317357 CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 gene DOID:13677 SAPHO syndrome ISO RGD:1321035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27936930 12317357 CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 gene DOID:630 genetic disease ISO RGD:1321035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317357 CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 gene DOID:9003996 Birth Weight ISO RGD:1321035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23202124 12317357 CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 gene DOID:9007633 Body Weight ISO RGD:1321035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219|PMID:22344221 12317357 CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 gene DOID:9351 diabetes mellitus ISO RGD:1321035 D RGD:9068941 20200609 RGD DNA:snp: :rs10946398(human) PMID:19741467|REF_RGD_ID:2313940 12317357 CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1321035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:17460697|PMID:17463246|PMID:17463248|PMID:17463249|PMID:24760768 12317357 CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 gene DOID:9970 obesity ISO RGD:1321035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity 12317397 ZNF629 zinc finger protein 629 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1314773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12317397 ZNF629 zinc finger protein 629 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1314773 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 12317397 ZNF629 zinc finger protein 629 gene DOID:630 genetic disease ISO RGD:1314773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317419 ASB6 ankyrin repeat and SOCS box containing 6 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1318216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12317419 ASB6 ankyrin repeat and SOCS box containing 6 gene DOID:630 genetic disease ISO RGD:1318216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317435 GPR50 G protein-coupled receptor 50 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:1346636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 12317435 GPR50 G protein-coupled receptor 50 gene DOID:0060041 autism spectrum disorder ISO RGD:1346636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20657642 12317435 GPR50 G protein-coupled receptor 50 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12317435 GPR50 G protein-coupled receptor 50 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:1346636 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 12317435 GPR50 G protein-coupled receptor 50 gene DOID:12849 autistic disorder ISO RGD:1346636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12317435 GPR50 G protein-coupled receptor 50 gene DOID:630 genetic disease ISO RGD:1346636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317439 PCBP3 poly(rC) binding protein 3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1316622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12317439 PCBP3 poly(rC) binding protein 3 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1316622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 12317439 PCBP3 poly(rC) binding protein 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:1316622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12317439 PCBP3 poly(rC) binding protein 3 gene DOID:12849 autistic disorder ISO RGD:1316622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12317439 PCBP3 poly(rC) binding protein 3 gene DOID:630 genetic disease ISO RGD:1316622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317439 PCBP3 poly(rC) binding protein 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1316622 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12317439 PCBP3 poly(rC) binding protein 3 gene DOID:9263 homocystinuria ISO RGD:1316622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12317439 PCBP3 poly(rC) binding protein 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12317477 RPAIN RPA interacting protein gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1604268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 12317477 RPAIN RPA interacting protein gene DOID:630 genetic disease ISO RGD:1604268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317496 LOC607874 cystatin-C-like gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12317496 LOC607874 cystatin-C-like gene DOID:0070027 CST3-related cerebral amyloid angiopathy ISO RGD:736914 D RGD:7240710 20180130 OMIM 12317496 LOC607874 cystatin-C-like gene DOID:0070027 CST3-related cerebral amyloid angiopathy ISO RGD:736914 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cerebral amyloid angiopathy, Icelandic type PMID:11815350|PMID:2363674|PMID:2567273|PMID:25741868|PMID:25893795|PMID:28492532|PMID:2900981|PMID:33116287|PMID:8108423 12317496 LOC607874 cystatin-C-like gene DOID:0110023 age related macular degeneration 11 ISO RGD:736914 D RGD:7240710 20180130 OMIM 12317496 LOC607874 cystatin-C-like gene DOID:0110023 age related macular degeneration 11 ISO RGD:736914 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 11 PMID:11815350|PMID:25741868|PMID:25893795|PMID:28492532|PMID:33116287 12317496 LOC607874 cystatin-C-like gene DOID:10591 pre-eclampsia ISO RGD:736914 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:18197549|REF_RGD_ID:2314350 12317496 LOC607874 cystatin-C-like gene DOID:10652 Alzheimer's disease ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17192785|PMID:18026100 12317496 LOC607874 cystatin-C-like gene DOID:10652 Alzheimer's disease ISO RGD:736914 D RGD:9068941 20200806 RGD protein:increased expression:plasma PMID:15907478|REF_RGD_ID:1358533 12317496 LOC607874 cystatin-C-like gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:736914 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:18824671|REF_RGD_ID:2314333 12317496 LOC607874 cystatin-C-like gene DOID:10941 intracranial aneurysm ISO RGD:2432 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain, artery PMID:18635848|REF_RGD_ID:2306495 12317496 LOC607874 cystatin-C-like gene DOID:10941 intracranial aneurysm ISO RGD:736914 D RGD:9068941 20200609 RGD protein:decreased expression:brain, artery PMID:18635848|REF_RGD_ID:2306495 12317496 LOC607874 cystatin-C-like gene DOID:11758 iron deficiency anemia ISO RGD:2432 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:18723004|REF_RGD_ID:2301196 12317496 LOC607874 cystatin-C-like gene DOID:12842 Guillain-Barre syndrome ISO RGD:736914 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:11134381|REF_RGD_ID:5686395 12317496 LOC607874 cystatin-C-like gene DOID:1287 cardiovascular system disease ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21356263 12317496 LOC607874 cystatin-C-like gene DOID:1389 polyneuropathy ISO RGD:736914 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:11134381|REF_RGD_ID:5686395 12317496 LOC607874 cystatin-C-like gene DOID:2316 brain ischemia ISO RGD:736914 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:18261165|REF_RGD_ID:2314349 12317496 LOC607874 cystatin-C-like gene DOID:2377 multiple sclerosis ISO RGD:10415 D RGD:9068941 20200609 RGD PMID:17086443|REF_RGD_ID:5686392 12317496 LOC607874 cystatin-C-like gene DOID:2377 multiple sclerosis ISO RGD:736914 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:12589965|REF_RGD_ID:5686394 12317496 LOC607874 cystatin-C-like gene DOID:3021 acute kidney failure ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22005293|PMID:28885000 12317496 LOC607874 cystatin-C-like gene DOID:3393 coronary artery disease ISO RGD:736914 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:17983622|REF_RGD_ID:2314352 12317496 LOC607874 cystatin-C-like gene DOID:341 peripheral vascular disease ISO RGD:736914 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19761940|REF_RGD_ID:2314304 12317496 LOC607874 cystatin-C-like gene DOID:3565 meningioma ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19747051 12317496 LOC607874 cystatin-C-like gene DOID:557 kidney disease ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22525860|PMID:24863737 12317496 LOC607874 cystatin-C-like gene DOID:557 kidney disease onset ISO RGD:736914 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) PMID:19291539|REF_RGD_ID:2314320 12317496 LOC607874 cystatin-C-like gene DOID:5773 oral submucous fibrosis ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 12317496 LOC607874 cystatin-C-like gene DOID:6000 congestive heart failure susceptibility ISO RGD:736914 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19539088|REF_RGD_ID:2314311 12317496 LOC607874 cystatin-C-like gene DOID:630 genetic disease ISO RGD:736914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317496 LOC607874 cystatin-C-like gene DOID:9000046 Poisoning ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22525860 12317496 LOC607874 cystatin-C-like gene DOID:9000965 Neoplasm Metastasis ISO RGD:736914 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:12589965|REF_RGD_ID:5686394 12317496 LOC607874 cystatin-C-like gene DOID:9001542 Albuminuria ISO RGD:736914 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) PMID:19596469|REF_RGD_ID:2314309 12317496 LOC607874 cystatin-C-like gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:736914 D RGD:9068941 20200609 RGD associated with Myocardial Infarction;protein:increased expression:serum (human) PMID:19741512|REF_RGD_ID:2314308 12317496 LOC607874 cystatin-C-like gene DOID:9002165 Diabetic Nephropathies ISO RGD:2432 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:18946178|REF_RGD_ID:2314297 12317496 LOC607874 cystatin-C-like gene DOID:9002165 Diabetic Nephropathies ISO RGD:736914 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19132849|REF_RGD_ID:2314328 12317496 LOC607874 cystatin-C-like gene DOID:9002801 Recurrence ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19747051 12317496 LOC607874 cystatin-C-like gene DOID:9004492 Familial Amyloidosis ISO RGD:736914 D RGD:9068941 20200609 RGD protein:missense mutation:cds:p.L68Q (human) PMID:3517880|REF_RGD_ID:2314354 12317496 LOC607874 cystatin-C-like gene DOID:9006646 Metabolic Syndrome ISO RGD:736914 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19887833|REF_RGD_ID:2314295 12317496 LOC607874 cystatin-C-like gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12317496 LOC607874 cystatin-C-like gene DOID:9007692 Insulin Resistance ISO RGD:736914 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) PMID:19765773|REF_RGD_ID:2314305 12317496 LOC607874 cystatin-C-like gene DOID:9007980 Sleep Deprivation ISO RGD:2432 D RGD:9068941 20200609 RGD PMID:17027151|REF_RGD_ID:2306498 12317496 LOC607874 cystatin-C-like gene DOID:9119 acute myeloid leukemia ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12317496 LOC607874 cystatin-C-like gene DOID:9352 type 2 diabetes mellitus ISO RGD:736914 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19887833|REF_RGD_ID:2314295 12317496 LOC607874 cystatin-C-like gene DOID:9970 obesity ISO RGD:2432 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:18946178|REF_RGD_ID:2314297 12317496 LOC607874 cystatin-C-like gene DOID:9970 obesity ISO RGD:736914 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:18374694|REF_RGD_ID:2314346 12317503 FGF5 fibroblast growth factor 5 gene DOID:0060224 atrial fibrillation ISO RGD:1350517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12317503 FGF5 fibroblast growth factor 5 gene DOID:0111566 familial isolated trichomegaly ISO RGD:1350517 D RGD:7240710 20180130 OMIM 12317503 FGF5 fibroblast growth factor 5 gene DOID:0111566 familial isolated trichomegaly ISO RGD:1350517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichomegaly PMID:24989505 12317503 FGF5 fibroblast growth factor 5 gene DOID:630 genetic disease ISO RGD:1350517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317503 FGF5 fibroblast growth factor 5 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1350517 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12317515 MTCH1 mitochondrial carrier 1 gene DOID:0050553 JMP syndrome ISO RGD:1319508 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12317515 MTCH1 mitochondrial carrier 1 gene DOID:630 genetic disease ISO RGD:1319508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317530 LOC608913 zinc finger protein 883-like gene DOID:630 genetic disease ISO RGD:1604434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317551 STRADA STE20 related adaptor alpha gene DOID:0050902 medulloblastoma ISO RGD:1606991 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21652733 12317551 STRADA STE20 related adaptor alpha gene DOID:1826 epilepsy ISO RGD:1606991 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868|PMID:33605605 12317551 STRADA STE20 related adaptor alpha gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1606991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:28492532|PMID:29358611 12317551 STRADA STE20 related adaptor alpha gene DOID:630 genetic disease ISO RGD:1606991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12317551 STRADA STE20 related adaptor alpha gene DOID:9006920 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy ISO RGD:1606991 D RGD:7240710 20180130 OMIM 12317551 STRADA STE20 related adaptor alpha gene DOID:9006920 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy ISO RGD:1606991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyhydramnios, megalencephaly, and symptomatic epilepsy PMID:16199547|PMID:17522105|PMID:17576681|PMID:20424326|PMID:25741868|PMID:27170158|PMID:28492532|PMID:29358611|PMID:33605605|PMID:9536098 12317578 COX11 cytochrome c oxidase copper chaperone COX11 gene DOID:630 genetic disease ISO RGD:1320366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317578 COX11 cytochrome c oxidase copper chaperone COX11 gene DOID:9004597 Mitochondrial Complex IV Deficiency, Nuclear Type 23 ISO RGD:1320366 D RGD:7240710 20230505 OMIM 12317578 COX11 cytochrome c oxidase copper chaperone COX11 gene DOID:9004597 Mitochondrial Complex IV Deficiency, Nuclear Type 23 ISO RGD:1320366 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 23 PMID:36030551 12317586 PHOX2B paired like homeobox 2B gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:1347823 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar Annotator: match by term: Ondine-Hirschsprung disease PMID:10613788|PMID:12640453|PMID:14566559|PMID:14608649|PMID:14709596|PMID:15121777|PMID:15334515|PMID:15338462|PMID:15657873|PMID:16763219|PMID:16830328|PMID:16873766|PMID:17637745|PMID:17765533|PMID:17928950|PMID:18079495|PMID:19011468|PMID:20208042|PMID:20301600|PMID:20456320|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26063465|PMID:27153395|PMID:28422456|PMID:28492532|PMID:28873162|PMID:29531718|PMID:29543228|PMID:29704303|PMID:30672101|PMID:32573669|PMID:34298581 12317586 PHOX2B paired like homeobox 2B gene DOID:10487 Hirschsprung's disease ISO RGD:1347823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 12317586 PHOX2B paired like homeobox 2B gene DOID:2394 ovarian cancer ISO RGD:1347823 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 12317586 PHOX2B paired like homeobox 2B gene DOID:630 genetic disease ISO RGD:1347823 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12640453|PMID:14566559|PMID:14608649|PMID:15024693|PMID:15121777|PMID:15334515|PMID:15657873|PMID:16888290|PMID:19058226|PMID:19422034|PMID:20208042|PMID:20301600|PMID:24033266|PMID:24169930|PMID:25741868|PMID:26063465|PMID:28371199|PMID:29531718 12317586 PHOX2B paired like homeobox 2B gene DOID:769 neuroblastoma ISO RGD:1347823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma 12317586 PHOX2B paired like homeobox 2B gene DOID:769 neuroblastoma exacerbates ISO RGD:1347823 D RGD:9068941 20220408 RGD human cell line in a mouse model PMID:26840262|REF_RGD_ID:151667442 12317586 PHOX2B paired like homeobox 2B gene DOID:8778 Crohn's disease ISO RGD:1347823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17435756 12317586 PHOX2B paired like homeobox 2B gene DOID:9000270 Congenital Central Hypoventilation Syndrome 1 ISO RGD:1347823 D RGD:7240710 20220413 OMIM 12317586 PHOX2B paired like homeobox 2B gene DOID:9000270 Congenital Central Hypoventilation Syndrome 1 ISO RGD:1347823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Haddad syndrome PMID:10613788|PMID:12640453|PMID:14709596|PMID:15024693|PMID:15121777|PMID:15338462|PMID:15657873|PMID:15888479|PMID:15949893|PMID:16199547|PMID:16249188|PMID:16443855|PMID:16763219|PMID:16830328|PMID:16873766|PMID:17576681|PMID:17637745|PMID:17765533|PMID:17928950|PMID:18079495|PMID:18292934|PMID:19011468|PMID:19058226|PMID:20208042|PMID:23754957|PMID:23873030|PMID:24033266|PMID:24728327|PMID:25156769|PMID:25741868|PMID:26375764|PMID:26580448|PMID:27013732|PMID:27153395|PMID:28371199|PMID:28422456|PMID:28492532|PMID:28873162|PMID:29098737|PMID:29543228|PMID:29641532|PMID:29696799|PMID:29704303|PMID:30092902|PMID:30672101|PMID:33958749|PMID:9536098 12317586 PHOX2B paired like homeobox 2B gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1347823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 12317586 PHOX2B paired like homeobox 2B gene DOID:9001305 Neuroblastoma 2 ISO RGD:1347823 D RGD:7240710 20230505 OMIM 12317586 PHOX2B paired like homeobox 2B gene DOID:9001305 Neuroblastoma 2 ISO RGD:1347823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 2 PMID:12640453|PMID:15024693|PMID:15121777|PMID:15338462|PMID:15657873|PMID:15949893|PMID:16249188|PMID:16443855|PMID:16691592|PMID:16763219|PMID:16830328|PMID:17637745|PMID:17765533|PMID:18079495|PMID:19011468|PMID:19058226|PMID:20208042|PMID:23754957|PMID:23873030|PMID:24033266|PMID:25741868|PMID:27013732|PMID:27153395|PMID:28371199|PMID:28492532|PMID:28873162 12317586 PHOX2B paired like homeobox 2B gene DOID:9001466 Hirschsprung Disease Ganglioneuroblastoma ISO RGD:1347823 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hirschsprung disease ganglioneuroblastoma PMID:11953745|PMID:12438263|PMID:15024693|PMID:15338462|PMID:17637745|PMID:20089899|PMID:23754957|PMID:23873030 12317586 PHOX2B paired like homeobox 2B gene DOID:9003671 Hypoventilation ISO RGD:1347823 D RGD:9068941 20200609 RGD PMID:12640453|PMID:14566559|REF_RGD_ID:1599147|REF_RGD_ID:1599148 12317586 PHOX2B paired like homeobox 2B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347823 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11953745|PMID:12438263|PMID:12640453|PMID:14566559|PMID:14608649|PMID:14709596|PMID:15024693|PMID:15121777|PMID:15334515|PMID:15338462|PMID:15657873|PMID:15949893|PMID:16249188|PMID:16443855|PMID:16691592|PMID:16763219|PMID:16830328|PMID:16888290|PMID:17576681|PMID:17637745|PMID:17765533|PMID:18079495|PMID:18157832|PMID:18292934|PMID:18407552|PMID:18798833|PMID:19011468|PMID:19058226|PMID:19422034|PMID:20089899|PMID:20208042|PMID:20301600|PMID:20456320|PMID:21373876|PMID:23460419|PMID:23622117|PMID:23754957|PMID:23873030|PMID:24033266|PMID:24169930|PMID:24728327|PMID:25156769|PMID:25319843|PMID:25741868|PMID:26063465|PMID:26375764|PMID:26580448|PMID:27013732|PMID:27153395|PMID:28371199|PMID:28422456|PMID:28492532|PMID:28873162|PMID:29531718|PMID:29543228|PMID:29641532|PMID:29704303|PMID:30518452|PMID:30672101|PMID:30850150|PMID:32573669|PMID:33958749|PMID:34298581|PMID:9536098 12317586 PHOX2B paired like homeobox 2B gene DOID:9256 colorectal cancer ISO RGD:1347823 D RGD:9068941 20220505 RGD DNA:hypermethylation: : (human) PMID:22552777|REF_RGD_ID:152025258 12317591 RAN RAN, member RAS oncogene family gene DOID:11446 sciatic neuropathy ISO RGD:620367 D RGD:9068941 20200609 RGD PMID:18667152|REF_RGD_ID:9835000 12317591 RAN RAN, member RAS oncogene family gene DOID:305 carcinoma ISO RGD:1348006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 12317591 RAN RAN, member RAS oncogene family gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1348006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12317591 RAN RAN, member RAS oncogene family gene DOID:8398 osteoarthritis ISO RGD:1348006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12317591 RAN RAN, member RAS oncogene family gene DOID:9000058 Keloid ISO RGD:1348006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12317591 RAN RAN, member RAS oncogene family gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1348006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 12317591 RAN RAN, member RAS oncogene family gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1348006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 12317591 RAN RAN, member RAS oncogene family gene DOID:9744 type 1 diabetes mellitus ISO RGD:1348006 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:22114719|REF_RGD_ID:9835390 12317599 STON1 stonin 1 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:1602494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 12317599 STON1 stonin 1 gene DOID:2661 myoepithelioma ISO RGD:1602494 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12317599 STON1 stonin 1 gene DOID:630 genetic disease ISO RGD:1602494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317633 SFTPB surfactant protein B gene DOID:0050848 obstructive sleep apnea ISO RGD:737197 D RGD:9068941 20220414 RGD protein:decreased expression:serum: PMID:25953386|REF_RGD_ID:151667446 12317633 SFTPB surfactant protein B gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:737197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 12317633 SFTPB surfactant protein B gene DOID:11162 respiratory failure ISO RGD:737197 D RGD:9068941 20200609 RGD associated with Pulmonary Alveolar Proteinosis;DNA:insertion:exon:375delCinsGAA (human) PMID:8163685|REF_RGD_ID:1624152 12317633 SFTPB surfactant protein B gene DOID:11162 respiratory failure ISO RGD:737197 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive;DNA:polymorphism:intron (human) PMID:12515908|REF_RGD_ID:4143414 12317633 SFTPB surfactant protein B gene DOID:11162 respiratory failure ISO RGD:737198 D RGD:9068941 20200609 RGD PMID:12639841|PMID:1622844|REF_RGD_ID:4143410|REF_RGD_ID:4143460 12317633 SFTPB surfactant protein B gene DOID:11339 pneumocystosis ISO RGD:737198 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:11385364|REF_RGD_ID:4143431 12317633 SFTPB surfactant protein B gene DOID:11394 adult respiratory distress syndrome ISO RGD:737197 D RGD:9068941 20200609 RGD associated with Pneumonia;DNA:polymorphism: :1580C>T (human) PMID:15190959|REF_RGD_ID:4143404 12317633 SFTPB surfactant protein B gene DOID:11394 adult respiratory distress syndrome ISO RGD:737197 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:17662121|REF_RGD_ID:4143379 12317633 SFTPB surfactant protein B gene DOID:11394 adult respiratory distress syndrome ISO RGD:737197 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:9351625|REF_RGD_ID:4143447 12317633 SFTPB surfactant protein B gene DOID:11394 adult respiratory distress syndrome susceptibility ISO RGD:737197 D RGD:9068941 20200609 RGD associated with Lung Injury;DNA:polymorphism:intron (human) PMID:14718442|REF_RGD_ID:4143408 12317633 SFTPB surfactant protein B gene DOID:11650 bronchopulmonary dysplasia ISO RGD:737197 D RGD:9068941 20200609 RGD PMID:17264398|REF_RGD_ID:4143384 12317633 SFTPB surfactant protein B gene DOID:11650 bronchopulmonary dysplasia ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:deletion:intron (human) PMID:15102713|REF_RGD_ID:4143405 12317633 SFTPB surfactant protein B gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:12424586|REF_RGD_ID:4143418 12317633 SFTPB surfactant protein B gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:737197 D RGD:9068941 20220414 RGD DNA:SNPs:5'UTR,exon: PMID:26045806|REF_RGD_ID:11085373 12317633 SFTPB surfactant protein B gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:737197 D RGD:9068941 20200609 RGD protein:altered processing:lung PMID:16042774|REF_RGD_ID:4143392 12317633 SFTPB surfactant protein B gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:737197 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:12612307|REF_RGD_ID:4143411 12317633 SFTPB surfactant protein B gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:737198 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:7654386|REF_RGD_ID:4143454 12317633 SFTPB surfactant protein B gene DOID:12716 newborn respiratory distress syndrome ISO RGD:621700 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:11504697|REF_RGD_ID:4143428 12317633 SFTPB surfactant protein B gene DOID:12716 newborn respiratory distress syndrome ISO RGD:737197 D RGD:9068941 20200609 RGD PMID:12490037|PMID:18353230|REF_RGD_ID:4143376|REF_RGD_ID:4143416 12317633 SFTPB surfactant protein B gene DOID:12716 newborn respiratory distress syndrome ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:7832777|REF_RGD_ID:4143455 12317633 SFTPB surfactant protein B gene DOID:12716 newborn respiratory distress syndrome susceptibility ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.T131I (human) PMID:11063734|REF_RGD_ID:4143433 12317633 SFTPB surfactant protein B gene DOID:12716 newborn respiratory distress syndrome susceptibility ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:12424586|REF_RGD_ID:4143418 12317633 SFTPB surfactant protein B gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:737197 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:10194154|REF_RGD_ID:4143439 12317633 SFTPB surfactant protein B gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, cds, intron:-32G>T (rs2077079), p.T131I (rs1130866), 5781A>C (rs2040349) (human) PMID:17498296|REF_RGD_ID:4143382 12317633 SFTPB surfactant protein B gene DOID:1324 lung cancer ISO RGD:737197 D RGD:9068941 20220407 RGD PMID:24248694|REF_RGD_ID:151667422 12317633 SFTPB surfactant protein B gene DOID:1324 lung cancer disease_progression ISO RGD:737197 D RGD:9068941 20220407 RGD PMID:28743125|REF_RGD_ID:151667423 12317633 SFTPB surfactant protein B gene DOID:14115 toxic shock syndrome ISO RGD:737197 D RGD:9068941 20200609 RGD associated with Pneumonia;DNA:polymorphism: :1580C>T (human) PMID:15190959|REF_RGD_ID:4143404 12317633 SFTPB surfactant protein B gene DOID:1485 cystic fibrosis ISO RGD:737197 D RGD:9068941 20200609 RGD mRNA:increased expression:respiratory system mucosa PMID:17507829|REF_RGD_ID:4143381 12317633 SFTPB surfactant protein B gene DOID:2841 asthma ISO RGD:621700 D RGD:9068941 20200609 RGD protein:decreased expression:lung, Clara cell PMID:15816355|REF_RGD_ID:4143398 12317633 SFTPB surfactant protein B gene DOID:2841 asthma ISO RGD:737197 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:16629790|REF_RGD_ID:4143462 12317633 SFTPB surfactant protein B gene DOID:2841 asthma ISO RGD:737198 D RGD:9068941 20200609 RGD PMID:18926058|REF_RGD_ID:4143289 12317633 SFTPB surfactant protein B gene DOID:2841 asthma ISO RGD:737198 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:11472974|REF_RGD_ID:4143465 12317633 SFTPB surfactant protein B gene DOID:2914 immune system disease ISO RGD:737198 D RGD:9068941 20200609 RGD associated with Pneumonia, Pneumocystis carinii;protein:decreased expression:lung PMID:19201882|REF_RGD_ID:4143286 12317633 SFTPB surfactant protein B gene DOID:3082 interstitial lung disease ISO RGD:737197 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;DNA:SNP: :p.T131I (rs1130866) (human) PMID:18263595|REF_RGD_ID:4143377 12317633 SFTPB surfactant protein B gene DOID:3082 interstitial lung disease ISO RGD:737197 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:11445799|REF_RGD_ID:4143430 12317633 SFTPB surfactant protein B gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:SNP: :p.T131I (rs1130866) (human) PMID:15817713|REF_RGD_ID:4143396 12317633 SFTPB surfactant protein B gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18550614|REF_RGD_ID:4143290 12317633 SFTPB surfactant protein B gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:polymorphism: :1580C>T (human) PMID:11589345|PMID:15315329|REF_RGD_ID:4143402|REF_RGD_ID:4143423 12317633 SFTPB surfactant protein B gene DOID:3770 pulmonary fibrosis susceptibility ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:13680361|REF_RGD_ID:4143409 12317633 SFTPB surfactant protein B gene DOID:3827 congenital diaphragmatic hernia treatment ISO RGD:621700 D RGD:9068941 20220408 RGD PMID:11051153|REF_RGD_ID:151667435 12317633 SFTPB surfactant protein B gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:16570259|REF_RGD_ID:4143389 12317633 SFTPB surfactant protein B gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:737197 D RGD:9068941 20220407 RGD DNA:variants:intron: PMID:12107845|REF_RGD_ID:151667424 12317633 SFTPB surfactant protein B gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:737197 D RGD:9068941 20220407 RGD DNA:SNPs: :rs7316, rs9752 (human) PMID:31016788|REF_RGD_ID:151667418 12317633 SFTPB surfactant protein B gene DOID:552 pneumonia ISO RGD:737197 D RGD:9068941 20200609 RGD PMID:16024721|REF_RGD_ID:4143393 12317633 SFTPB surfactant protein B gene DOID:552 pneumonia ISO RGD:737198 D RGD:9068941 20200609 RGD PMID:12594064|PMID:15967375|REF_RGD_ID:4143394|REF_RGD_ID:4143412 12317633 SFTPB surfactant protein B gene DOID:630 genetic disease ISO RGD:737197 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12317633 SFTPB surfactant protein B gene DOID:850 lung disease ISO RGD:10717 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:16309574|REF_RGD_ID:4143390 12317633 SFTPB surfactant protein B gene DOID:850 lung disease ISO RGD:621700 D RGD:9068941 20200609 RGD Meconium Aspiration Syndrome;protein:decreased expression:lung PMID:9374572|REF_RGD_ID:4143446 12317633 SFTPB surfactant protein B gene DOID:850 lung disease ISO RGD:621700 D RGD:9068941 20200609 RGD associated with Hyperoxia;mRNA:increased expression:lung PMID:19099817|REF_RGD_ID:4143287 12317633 SFTPB surfactant protein B gene DOID:850 lung disease ISO RGD:737197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16863852 12317633 SFTPB surfactant protein B gene DOID:850 lung disease ISO RGD:737197 D RGD:9068941 20200609 RGD Acute Lung Injury;mRNA:increased expression:pneumocyte PMID:8569184|REF_RGD_ID:4143451 12317633 SFTPB surfactant protein B gene DOID:850 lung disease ISO RGD:737197 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;protein:increased expression:lung PMID:16274485|REF_RGD_ID:4143463 12317633 SFTPB surfactant protein B gene DOID:850 lung disease ISO RGD:737197 D RGD:9068941 20200609 RGD protein:altered processing:lung PMID:16042774|REF_RGD_ID:4143392 12317633 SFTPB surfactant protein B gene DOID:874 bacterial pneumonia ISO RGD:621700 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:12169586|REF_RGD_ID:4143464 12317633 SFTPB surfactant protein B gene DOID:874 bacterial pneumonia ISO RGD:737197 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;protein:increased expression:lung PMID:15271694|REF_RGD_ID:4143403 12317633 SFTPB surfactant protein B gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:737198 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:14748931|REF_RGD_ID:4143407 12317633 SFTPB surfactant protein B gene DOID:9001026 Pulmonary Surfactant Metabolism Dysfunction 1 ISO RGD:737197 D RGD:7240710 20180130 OMIM 12317633 SFTPB surfactant protein B gene DOID:9001026 Pulmonary Surfactant Metabolism Dysfunction 1 ISO RGD:737197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTERSTITIAL LUNG DISEASE DUE TO SURFACTANT PROTEIN B DEFICIENCY | ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 1 | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1 PMID:10378403|PMID:10571948|PMID:10712351|PMID:10960490|PMID:21965505|PMID:23625987|PMID:24033266|PMID:25741868|PMID:26199800|PMID:28492532|PMID:28888561|PMID:7491219|PMID:8163685|PMID:9506635|PMID:9682215|PMID:9973546 12317633 SFTPB surfactant protein B gene DOID:9001049 Staphylococcal Pneumonia ameliorates ISO RGD:737197 D RGD:9068941 20220414 RGD PMID:20007532|REF_RGD_ID:151667448 12317633 SFTPB surfactant protein B gene DOID:9002379 Congenital Deficiency of Pulmonary Surfactant Protein B ISO RGD:737197 D RGD:9068941 20220414 RGD DNA:mutations: : PMID:10378403|REF_RGD_ID:151667447 12317633 SFTPB surfactant protein B gene DOID:9002379 Congenital Deficiency of Pulmonary Surfactant Protein B ameliorates ISO RGD:737197 D RGD:9068941 20220414 RGD PMID:28581337|REF_RGD_ID:151667445 12317633 SFTPB surfactant protein B gene DOID:9003953 Surfactant Dysfunction ISO RGD:737197 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction PMID:10571948|PMID:10712351|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28888561|PMID:7491219|PMID:9506635|PMID:9973546 12317633 SFTPB surfactant protein B gene DOID:9004610 Acute Lung Injury treatment ISO RGD:621700 D RGD:9068941 20220408 RGD PMID:22295533|REF_RGD_ID:151667443 12317633 SFTPB surfactant protein B gene DOID:9005172 Lung Neoplasms ISO RGD:737197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16570259 12317633 SFTPB surfactant protein B gene DOID:9007417 Pseudomonas Infections ameliorates ISO RGD:737197 D RGD:9068941 20220414 RGD PMID:20007532|REF_RGD_ID:151667448 12317633 SFTPB surfactant protein B gene DOID:9007480 Hyperoxia ISO RGD:621700 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:11472975|REF_RGD_ID:4143429 12317633 SFTPB surfactant protein B gene DOID:9007480 Hyperoxia ISO RGD:737198 D RGD:9068941 20200609 RGD PMID:10502556|REF_RGD_ID:4143438 12317633 SFTPB surfactant protein B gene DOID:9009073 Diaphragmatic Hernia ISO RGD:737197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10830305|PMID:16863852 12317633 SFTPB surfactant protein B gene DOID:9970 obesity ISO RGD:621700 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15136884|REF_RGD_ID:4143472 12317652 RABIF RAB interacting factor gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1344362 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12317652 RABIF RAB interacting factor gene DOID:1540 parathyroid carcinoma ISO RGD:1344362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12317652 RABIF RAB interacting factor gene DOID:630 genetic disease ISO RGD:1344362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317652 RABIF RAB interacting factor gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1344362 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12317652 RABIF RAB interacting factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12317683 KIF2B kinesin family member 2B gene DOID:630 genetic disease ISO RGD:1351135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317691 ZNF382 zinc finger protein 382 gene DOID:630 genetic disease ISO RGD:1352355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317749 PDE6G phosphodiesterase 6G gene DOID:0110407 retinitis pigmentosa 57 ISO RGD:735391 D RGD:7240710 20180130 OMIM 12317749 PDE6G phosphodiesterase 6G gene DOID:0110407 retinitis pigmentosa 57 ISO RGD:735391 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 57 PMID:17576681|PMID:20655036|PMID:25741868|PMID:28492532|PMID:9536098 12317749 PDE6G phosphodiesterase 6G gene DOID:10584 retinitis pigmentosa ISO RGD:735391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20655036|PMID:25741868|PMID:28492532 12317749 PDE6G phosphodiesterase 6G gene DOID:630 genetic disease ISO RGD:735391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12317749 PDE6G phosphodiesterase 6G gene DOID:8501 fundus dystrophy ISO RGD:735391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 12317760 GRSF1 G-rich RNA sequence binding factor 1 gene DOID:630 genetic disease ISO RGD:1322002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317760 GRSF1 G-rich RNA sequence binding factor 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1322002 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12317774 GC GC vitamin D binding protein gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:736902 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid: PMID:20093204|REF_RGD_ID:5509869 12317774 GC GC vitamin D binding protein gene DOID:11446 sciatic neuropathy ISO RGD:736902 D RGD:9068941 20200609 RGD protein:increased expression:nerve PMID:15509515|REF_RGD_ID:2316214 12317774 GC GC vitamin D binding protein gene DOID:12205 dengue disease ISO RGD:736902 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19845402|REF_RGD_ID:5509870 12317774 GC GC vitamin D binding protein gene DOID:12361 Graves' disease ISO RGD:736902 D RGD:9068941 20210521 CTD CTD Direct Evidence: marker/mechanism PMID:12050214 12317774 GC GC vitamin D binding protein gene DOID:12361 Graves' disease susceptibility ISO RGD:736902 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.T420K(human) PMID:16868893|REF_RGD_ID:5509883 12317774 GC GC vitamin D binding protein gene DOID:12361 Graves' disease susceptibility ISO RGD:736902 D RGD:9068941 20200609 RGD DNA:repeats:intron PMID:12050214|REF_RGD_ID:5509886 12317774 GC GC vitamin D binding protein gene DOID:1289 neurodegenerative disease ISO RGD:736902 D RGD:9068941 20200609 RGD PMID:19000909|REF_RGD_ID:5509872 12317774 GC GC vitamin D binding protein gene DOID:13141 uveitis susceptibility ISO RGD:736902 D RGD:9068941 20200609 RGD associated with Spondylitis, Ankylosing;DNA:SNP: :rs4752(human) PMID:21844150|REF_RGD_ID:5509918 12317774 GC GC vitamin D binding protein gene DOID:13413 hepatic encephalopathy ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11510020 12317774 GC GC vitamin D binding protein gene DOID:13413 hepatic encephalopathy ISO RGD:736902 D RGD:9068941 20200609 RGD PMID:11521994|REF_RGD_ID:5509929 12317774 GC GC vitamin D binding protein gene DOID:14115 toxic shock syndrome ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17852808 12317774 GC GC vitamin D binding protein gene DOID:1586 rheumatic fever ISO RGD:736902 D RGD:9068941 20200609 RGD PMID:2737695|REF_RGD_ID:5509933 12317774 GC GC vitamin D binding protein gene DOID:2316 brain ischemia ISO RGD:2667 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:11239198|REF_RGD_ID:1625796 12317774 GC GC vitamin D binding protein gene DOID:2377 multiple sclerosis ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25590278 12317774 GC GC vitamin D binding protein gene DOID:2377 multiple sclerosis ISO RGD:736902 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:18807170|REF_RGD_ID:5509923 12317774 GC GC vitamin D binding protein gene DOID:2377 multiple sclerosis ISO RGD:736902 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:19324981|REF_RGD_ID:5509922 12317774 GC GC vitamin D binding protein gene DOID:2377 multiple sclerosis no_association ISO RGD:736902 D RGD:9068941 20200609 RGD DNA:SNPs:exon:p.T420K, D416E(human) PMID:12044990|REF_RGD_ID:5509887 12317774 GC GC vitamin D binding protein gene DOID:2377 multiple sclerosis susceptibility ISO RGD:736902 D RGD:9068941 20200609 RGD PMID:12137326|REF_RGD_ID:5509885 12317774 GC GC vitamin D binding protein gene DOID:2841 asthma ISO RGD:10624 D RGD:9068941 20200609 RGD PMID:21169467|REF_RGD_ID:5509920 12317774 GC GC vitamin D binding protein gene DOID:2841 asthma ISO RGD:736902 D RGD:9068941 20200609 RGD protein, mRNA:increased expression:bronchoalveolar lavage fluid: PMID:21169467|REF_RGD_ID:5509920 12317774 GC GC vitamin D binding protein gene DOID:289 endometriosis severity ISO RGD:736902 D RGD:9068941 20200609 RGD PMID:18334925|REF_RGD_ID:5509874 12317774 GC GC vitamin D binding protein gene DOID:3021 acute kidney failure ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12317774 GC GC vitamin D binding protein gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736902 D RGD:9068941 20200609 RGD PMID:9517617|REF_RGD_ID:5509932 12317774 GC GC vitamin D binding protein gene DOID:5082 liver cirrhosis ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 12317774 GC GC vitamin D binding protein gene DOID:526 human immunodeficiency virus infectious disease disease_progression ISO RGD:736902 D RGD:9068941 20200609 RGD PMID:2883392|REF_RGD_ID:5509934 12317774 GC GC vitamin D binding protein gene DOID:5419 schizophrenia ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25821032 12317774 GC GC vitamin D binding protein gene DOID:630 genetic disease ISO RGD:736902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317774 GC GC vitamin D binding protein gene DOID:684 hepatocellular carcinoma ISO RGD:2667 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:21683810|REF_RGD_ID:5509919 12317774 GC GC vitamin D binding protein gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:736902 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic;DNA:SNP: :rs7041(human) PMID:25541958|REF_RGD_ID:14402025 12317774 GC GC vitamin D binding protein gene DOID:7148 rheumatoid arthritis ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3874814 12317774 GC GC vitamin D binding protein gene DOID:7148 rheumatoid arthritis ISO RGD:736902 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:9548303|REF_RGD_ID:5509931 12317774 GC GC vitamin D binding protein gene DOID:848 arthritis susceptibility ISO RGD:736902 D RGD:9068941 20200609 RGD associated with Spondylitis, Ankylosing;DNA:SNPs: :rs222016, rs222020,rs3733359(human) PMID:21844150|REF_RGD_ID:5509918 12317774 GC GC vitamin D binding protein gene DOID:8577 ulcerative colitis susceptibility ISO RGD:736902 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.T420K(human) PMID:21832969|REF_RGD_ID:5509866 12317774 GC GC vitamin D binding protein gene DOID:8778 Crohn's disease susceptibility ISO RGD:736902 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.T420K(human) PMID:21832969|REF_RGD_ID:5509866 12317774 GC GC vitamin D binding protein gene DOID:8947 diabetic retinopathy ISO RGD:736902 D RGD:9068941 20200609 RGD protein:increased expression:vitreous body PMID:16080911|REF_RGD_ID:2315548 12317774 GC GC vitamin D binding protein gene DOID:9000888 Pregnancy in Diabetics ISO RGD:2667 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:3948765|REF_RGD_ID:2315537 12317774 GC GC vitamin D binding protein gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:736902 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12317774 GC GC vitamin D binding protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12317774 GC GC vitamin D binding protein gene DOID:9001600 Wounds and Injuries ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17852808 12317774 GC GC vitamin D binding protein gene DOID:9001600 Wounds and Injuries treatment ISO RGD:2667 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24263389|REF_RGD_ID:11041807 12317774 GC GC vitamin D binding protein gene DOID:9002278 Metabolic Bone Diseases ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 12317774 GC GC vitamin D binding protein gene DOID:9004086 AIDS Dementia Complex ISO RGD:736902 D RGD:9068941 20200609 RGD associated with HIV Infections;protein:increased expression:cerebrospinal fluid: PMID:17929958|REF_RGD_ID:5509882 12317774 GC GC vitamin D binding protein gene DOID:9004257 Pneumonia, Ventilator-Associated ISO RGD:736902 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar fluid: PMID:21136918|REF_RGD_ID:5509873 12317774 GC GC vitamin D binding protein gene DOID:9004590 Acute Liver Failure ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17852808|PMID:8666322 12317774 GC GC vitamin D binding protein gene DOID:9005172 Lung Neoplasms ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17902193 12317774 GC GC vitamin D binding protein gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2667 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:3838933|REF_RGD_ID:2315540 12317774 GC GC vitamin D binding protein gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:736902 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:16868893|REF_RGD_ID:5509883 12317774 GC GC vitamin D binding protein gene DOID:9006182 Carotid Artery Injuries ISO RGD:2667 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:21416056|REF_RGD_ID:5509868 12317774 GC GC vitamin D binding protein gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12317774 GC GC vitamin D binding protein gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 12317774 GC GC vitamin D binding protein gene DOID:9007651 Chronic Bronchitis susceptibility ISO RGD:736902 D RGD:9068941 20200609 RGD PMID:12096683|REF_RGD_ID:5129516 12317774 GC GC vitamin D binding protein gene DOID:9351 diabetes mellitus ISO RGD:736902 D RGD:9068941 20200609 RGD protein:increased expression:ascitic fluid PMID:20054029|REF_RGD_ID:5509921 12317774 GC GC vitamin D binding protein gene DOID:9744 type 1 diabetes mellitus ISO RGD:736902 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.D416E(human) PMID:11239517|REF_RGD_ID:2315558 12317794 DSTN destrin, actin depolymerizing factor gene DOID:6000 congestive heart failure ISO RGD:1312065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12317794 DSTN destrin, actin depolymerizing factor gene DOID:630 genetic disease ISO RGD:1312065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317794 DSTN destrin, actin depolymerizing factor gene DOID:9000955 Acute Otitis Media ISO RGD:8979178 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mucosa of middle ear PMID:26711468|REF_RGD_ID:11553828 12317794 DSTN destrin, actin depolymerizing factor gene DOID:9006205 Animal Disease Models ISO RGD:1312065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12317794 DSTN destrin, actin depolymerizing factor gene DOID:9007174 Ventricular Remodeling ISO RGD:1312065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12317801 MOGS mannosyl-oligosaccharide glucosidase gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:732423 D RGD:7240710 20180130 OMIM 12317801 MOGS mannosyl-oligosaccharide glucosidase gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:732423 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: CDG IIb | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:10788335|PMID:12145188|PMID:16199547|PMID:24716661|PMID:25531304|PMID:25741868|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532|PMID:29235540|PMID:30587846|PMID:31925597|PMID:32246563|PMID:32860008|PMID:33058492|PMID:33261925 12317801 MOGS mannosyl-oligosaccharide glucosidase gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:732423 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:24716661 12317801 MOGS mannosyl-oligosaccharide glucosidase gene DOID:543 dystonia ISO RGD:732423 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12317801 MOGS mannosyl-oligosaccharide glucosidase gene DOID:630 genetic disease ISO RGD:732423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12317801 MOGS mannosyl-oligosaccharide glucosidase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:732423 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12317809 ZNF687 zinc finger protein 687 gene DOID:0080422 Dravet syndrome ISO RGD:1606250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 12317809 ZNF687 zinc finger protein 687 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12317809 ZNF687 zinc finger protein 687 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12317809 ZNF687 zinc finger protein 687 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12317809 ZNF687 zinc finger protein 687 gene DOID:1540 parathyroid carcinoma ISO RGD:1606250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12317809 ZNF687 zinc finger protein 687 gene DOID:5408 Paget's disease of bone ISO RGD:1606250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12317809 ZNF687 zinc finger protein 687 gene DOID:5812 MHC class II deficiency ISO RGD:1606250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12317809 ZNF687 zinc finger protein 687 gene DOID:630 genetic disease ISO RGD:1606250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12317809 ZNF687 zinc finger protein 687 gene DOID:9001120 Paget Disease of Bone 6 ISO RGD:1606250 D RGD:7240710 20190315 OMIM 12317809 ZNF687 zinc finger protein 687 gene DOID:9001120 Paget Disease of Bone 6 ISO RGD:1606250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paget disease of bone 6 PMID:15123951|PMID:22936311|PMID:25741868|PMID:26849110|PMID:28492532|PMID:29493781 12317809 ZNF687 zinc finger protein 687 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12317831 DNAH12 dynein axonemal heavy chain 12 gene DOID:11372 megacolon ISO RGD:1603257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12317831 DNAH12 dynein axonemal heavy chain 12 gene DOID:630 genetic disease ISO RGD:1603257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317831 DNAH12 dynein axonemal heavy chain 12 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1603257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 12317910 CCR9 C-C motif chemokine receptor 9 gene DOID:0080600 COVID-19 ISO RGD:1352272 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12317910 CCR9 C-C motif chemokine receptor 9 gene DOID:10487 Hirschsprung's disease ISO RGD:1352272 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 12317910 CCR9 C-C motif chemokine receptor 9 gene DOID:1205 allergic disease ISO RGD:1352272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12317910 CCR9 C-C motif chemokine receptor 9 gene DOID:1824 status epilepticus ISO RGD:1352272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17181556 12317910 CCR9 C-C motif chemokine receptor 9 gene DOID:2841 asthma ISO RGD:1352272 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:blood, mature NK T cell PMID:16210593|REF_RGD_ID:5130925 12317910 CCR9 C-C motif chemokine receptor 9 gene DOID:552 pneumonia ISO RGD:1352272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12317910 CCR9 C-C motif chemokine receptor 9 gene DOID:630 genetic disease ISO RGD:1352272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317910 CCR9 C-C motif chemokine receptor 9 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1352272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12317917 PLVAP plasmalemma vesicle associated protein gene DOID:630 genetic disease ISO RGD:1353643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12317917 PLVAP plasmalemma vesicle associated protein gene DOID:684 hepatocellular carcinoma ISO RGD:1353643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12317917 PLVAP plasmalemma vesicle associated protein gene DOID:9008956 DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE ISO RGD:1353643 D RGD:7240710 20190315 OMIM 12317917 PLVAP plasmalemma vesicle associated protein gene DOID:9008956 DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE ISO RGD:1353643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diarrhea 10, protein-losing enteropathy type PMID:26207260|PMID:29661969|PMID:29875123 12317927 IPO5 importin 5 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1603712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 12317927 IPO5 importin 5 gene DOID:3910 lung adenocarcinoma ISO RGD:1603712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12317927 IPO5 importin 5 gene DOID:630 genetic disease ISO RGD:1603712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317927 IPO5 importin 5 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1603712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12317927 IPO5 importin 5 gene DOID:9006205 Animal Disease Models ISO RGD:1603712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12317956 TLDC2 TBC/LysM-associated domain containing 2 gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1348581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:28492532 12317956 TLDC2 TBC/LysM-associated domain containing 2 gene DOID:2234 focal epilepsy ISO RGD:1348581 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12317956 TLDC2 TBC/LysM-associated domain containing 2 gene DOID:630 genetic disease ISO RGD:1348581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12317956 TLDC2 TBC/LysM-associated domain containing 2 gene DOID:9004067 Chilblain Lupus 2 ISO RGD:1348581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chilblain lupus 2 PMID:25741868 12317956 TLDC2 TBC/LysM-associated domain containing 2 gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1348581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:25741868|PMID:28492532 12317973 GCHFR GTP cyclohydrolase I feedback regulator gene DOID:2717 Bloom syndrome ISO RGD:1349515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12317973 GCHFR GTP cyclohydrolase I feedback regulator gene DOID:630 genetic disease ISO RGD:1349515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317973 GCHFR GTP cyclohydrolase I feedback regulator gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12317973 GCHFR GTP cyclohydrolase I feedback regulator gene DOID:9256 colorectal cancer ISO RGD:1349515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12317983 LRRC39 leucine rich repeat containing 39 gene DOID:630 genetic disease ISO RGD:1606975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12317983 LRRC39 leucine rich repeat containing 39 gene DOID:9269 maple syrup urine disease ISO RGD:1606975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 12318013 RARS1 arginyl-tRNA synthetase 1 gene DOID:0060791 hypomyelinating leukodystrophy 9 ISO RGD:1319432 D RGD:7240710 20180130 OMIM 12318013 RARS1 arginyl-tRNA synthetase 1 gene DOID:0060791 hypomyelinating leukodystrophy 9 ISO RGD:1319432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 9 PMID:24777941|PMID:25741868|PMID:27848944|PMID:28492532|PMID:28905880|PMID:30791064|PMID:31737794|PMID:31814314|PMID:33515434 12318013 RARS1 arginyl-tRNA synthetase 1 gene DOID:0111951 immunodeficiency 40 ISO RGD:1319432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 12318013 RARS1 arginyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1319432 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12318032 SLX9 SLX9 ribosome biogenesis factor gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1322617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12318032 SLX9 SLX9 ribosome biogenesis factor gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1322617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 12318032 SLX9 SLX9 ribosome biogenesis factor gene DOID:0110266 cataract 9 multiple types ISO RGD:1322617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12318032 SLX9 SLX9 ribosome biogenesis factor gene DOID:12849 autistic disorder ISO RGD:1322617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12318032 SLX9 SLX9 ribosome biogenesis factor gene DOID:630 genetic disease ISO RGD:1322617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318032 SLX9 SLX9 ribosome biogenesis factor gene DOID:891 progressive myoclonus epilepsy ISO RGD:1322617 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12318032 SLX9 SLX9 ribosome biogenesis factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12318032 SLX9 SLX9 ribosome biogenesis factor gene DOID:9263 homocystinuria ISO RGD:1322617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12318032 SLX9 SLX9 ribosome biogenesis factor gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12318046 PPP5C protein phosphatase 5 catalytic subunit gene DOID:630 genetic disease ISO RGD:68614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318046 PPP5C protein phosphatase 5 catalytic subunit gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:68615 D RGD:9068941 20200609 RGD PMID:20875921|REF_RGD_ID:8693745 12318073 CFAP97 cilia and flagella associated protein 97 gene DOID:12930 dilated cardiomyopathy ISO RGD:1316452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 12318073 CFAP97 cilia and flagella associated protein 97 gene DOID:630 genetic disease ISO RGD:1316452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318073 CFAP97 cilia and flagella associated protein 97 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1316452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 12318086 ZFP92 ZFP92 zinc finger protein gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1344727 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12318086 ZFP92 ZFP92 zinc finger protein gene DOID:0050476 Barth syndrome ISO RGD:1344727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12318086 ZFP92 ZFP92 zinc finger protein gene DOID:0050800 creatine transporter deficiency ISO RGD:1344727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12318086 ZFP92 ZFP92 zinc finger protein gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12318086 ZFP92 ZFP92 zinc finger protein gene DOID:10588 adrenoleukodystrophy ISO RGD:1344727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12318086 ZFP92 ZFP92 zinc finger protein gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1344727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12318086 ZFP92 ZFP92 zinc finger protein gene DOID:12849 autistic disorder ISO RGD:1344727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12318086 ZFP92 ZFP92 zinc finger protein gene DOID:13628 favism ISO RGD:1344727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12318086 ZFP92 ZFP92 zinc finger protein gene DOID:2729 dyskeratosis congenita ISO RGD:1344727 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12318086 ZFP92 ZFP92 zinc finger protein gene DOID:607 paraplegia ISO RGD:1344727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12318086 ZFP92 ZFP92 zinc finger protein gene DOID:630 genetic disease ISO RGD:1344727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318096 PROM2 prominin 2 gene DOID:630 genetic disease ISO RGD:1353767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318124 MIR138B microRNA mir-138b gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350565 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12318124 MIR138B microRNA mir-138b gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350565 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12318124 MIR138B microRNA mir-138b gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1350565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12318179 ADORA2B adenosine A2b receptor gene DOID:630 genetic disease ISO RGD:731019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318179 ADORA2B adenosine A2b receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:731019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27590504 12318179 ADORA2B adenosine A2b receptor gene DOID:9004009 Reperfusion Injury ISO RGD:731019 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27757725 12318179 ADORA2B adenosine A2b receptor gene DOID:9004484 Sepsis ISO RGD:731019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27757725 12318179 ADORA2B adenosine A2b receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731019 D RGD:9068941 20230128 CTD CTD Direct Evidence: therapeutic PMID:35292334 12318183 IFNA7 interferon, alpha 7 gene DOID:5419 schizophrenia ISO RGD:1352583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12318183 IFNA7 interferon, alpha 7 gene DOID:630 genetic disease ISO RGD:1352583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318186 PTRHD1 peptidyl-tRNA hydrolase domain containing 1 gene DOID:0080855 Parkinsonism ISO RGD:1606864 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:27134041|PMID:27753167 12318186 PTRHD1 peptidyl-tRNA hydrolase domain containing 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1606864 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 12318186 PTRHD1 peptidyl-tRNA hydrolase domain containing 1 gene DOID:630 genetic disease ISO RGD:1606864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318186 PTRHD1 peptidyl-tRNA hydrolase domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12318192 WTAP WT1 associated protein gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1321461 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 12318192 WTAP WT1 associated protein gene DOID:630 genetic disease ISO RGD:1321461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318210 ANGPTL4 angiopoietin like 4 gene DOID:0080490 mucolipidosis type IV ISO RGD:1344384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 12318210 ANGPTL4 angiopoietin like 4 gene DOID:1168 familial hyperlipidemia ISO RGD:1553412 D RGD:9068941 20200609 RGD PMID:12401877|PMID:15837923|REF_RGD_ID:1578349|REF_RGD_ID:1625354 12318210 ANGPTL4 angiopoietin like 4 gene DOID:12849 autistic disorder ISO RGD:1344384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12318210 ANGPTL4 angiopoietin like 4 gene DOID:305 carcinoma ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 12318210 ANGPTL4 angiopoietin like 4 gene DOID:3393 coronary artery disease ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27135400 12318210 ANGPTL4 angiopoietin like 4 gene DOID:630 genetic disease ISO RGD:1344384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318210 ANGPTL4 angiopoietin like 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17130448 12318210 ANGPTL4 angiopoietin like 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17130448 12318210 ANGPTL4 angiopoietin like 4 gene DOID:9003370 Dyslipidemias ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17322881 12318210 ANGPTL4 angiopoietin like 4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17130448 12318210 ANGPTL4 angiopoietin like 4 gene DOID:9005369 Hepatomegaly ISO RGD:1553412 D RGD:9068941 20200609 RGD PMID:15837923|REF_RGD_ID:1625354 12318210 ANGPTL4 angiopoietin like 4 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28842503 12318210 ANGPTL4 angiopoietin like 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 12318210 ANGPTL4 angiopoietin like 4 gene DOID:9452 fatty liver disease ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28842503 12318210 ANGPTL4 angiopoietin like 4 gene DOID:9452 fatty liver disease ISO RGD:1553412 D RGD:9068941 20200609 RGD PMID:15837923|REF_RGD_ID:1625354 12318210 ANGPTL4 angiopoietin like 4 gene DOID:9970 obesity ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28842503 12318210 ANGPTL4 angiopoietin like 4 gene DOID:9970 obesity resistance ISO RGD:1553412 D RGD:9068941 20200609 RGD PMID:17210919|REF_RGD_ID:1625353 12318220 DNM1L dynamin 1 like gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:733618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28492532 12318220 DNM1L dynamin 1 like gene DOID:0070347 encephalopathy due to defective mitochondrial and peroxisomal fission 1 ISO RGD:733618 D RGD:7240710 20180130 OMIM 12318220 DNM1L dynamin 1 like gene DOID:0070347 encephalopathy due to defective mitochondrial and peroxisomal fission 1 ISO RGD:733618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 PMID:17460227|PMID:18414213|PMID:20696759|PMID:25326635|PMID:25741868|PMID:26604000|PMID:26825290|PMID:26931468|PMID:26992161|PMID:27145208|PMID:27328748|PMID:28492532|PMID:29877124|PMID:30801875|PMID:30850373|PMID:31475481|PMID:31587467 12318220 DNM1L dynamin 1 like gene DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia ISO RGD:733618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia PMID:25741868|PMID:28492532 12318220 DNM1L dynamin 1 like gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:733618 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:27066507|PMID:28492532 12318220 DNM1L dynamin 1 like gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:733618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:25741868 12318220 DNM1L dynamin 1 like gene DOID:0111186 myopathy, lactic acidosis, and sideroblastic anemia 2 ISO RGD:733618 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 PMID:25741868|PMID:28492532 12318220 DNM1L dynamin 1 like gene DOID:0111438 optic atrophy 5 ISO RGD:733618 D RGD:7240710 20190315 OMIM 12318220 DNM1L dynamin 1 like gene DOID:0111438 optic atrophy 5 ISO RGD:733618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Optic atrophy 5 PMID:15635063|PMID:16199547|PMID:20696759|PMID:25741868|PMID:26604000|PMID:26825290|PMID:27145208|PMID:27328748|PMID:28492532|PMID:28969390|PMID:29110115|PMID:29877124|PMID:30850373 12318220 DNM1L dynamin 1 like gene DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome ISO RGD:733618 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome PMID:25741868 12318220 DNM1L dynamin 1 like gene DOID:10652 Alzheimer's disease ISO RGD:733618 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus (human) PMID:19605646|REF_RGD_ID:7800727 12318220 DNM1L dynamin 1 like gene DOID:10907 microcephaly ISO RGD:733618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17460227 12318220 DNM1L dynamin 1 like gene DOID:12930 dilated cardiomyopathy ISO RGD:733619 D RGD:9068941 20220825 MouseDO 12318220 DNM1L dynamin 1 like gene DOID:13711 dental fluorosis ISO RGD:620416 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:frontal cortex (rat) PMID:23007560|REF_RGD_ID:12738230 12318220 DNM1L dynamin 1 like gene DOID:14330 Parkinson's disease ISO RGD:733618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28215578 12318220 DNM1L dynamin 1 like gene DOID:3650 lactic acidosis ISO RGD:733618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17460227 12318220 DNM1L dynamin 1 like gene DOID:3770 pulmonary fibrosis ISO RGD:620416 D RGD:9068941 20200710 RGD mRNA,protein:increased expression:lung,mitochondrion PMID:25284615|REF_RGD_ID:35673291 12318220 DNM1L dynamin 1 like gene DOID:3770 pulmonary fibrosis ISO RGD:733618 D RGD:9068941 20200710 RGD protein:increased expression:lung PMID:25284615|REF_RGD_ID:35673291 12318220 DNM1L dynamin 1 like gene DOID:5723 optic atrophy ISO RGD:733618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17460227 12318220 DNM1L dynamin 1 like gene DOID:630 genetic disease ISO RGD:733618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20696759|PMID:25741868|PMID:26604000|PMID:26931468|PMID:27145208|PMID:28492532|PMID:29877124|PMID:31587467 12318220 DNM1L dynamin 1 like gene DOID:700 mitochondrial metabolism disease ISO RGD:733618 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial disease 12318220 DNM1L dynamin 1 like gene DOID:784 chronic kidney disease treatment ISO RGD:620416 D RGD:9068941 20200609 RGD PMID:27801955|REF_RGD_ID:12738369 12318220 DNM1L dynamin 1 like gene DOID:820 myocarditis ISO RGD:733618 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34365571 12318220 DNM1L dynamin 1 like gene DOID:890 mitochondrial encephalomyopathy ISO RGD:733618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17460227 12318220 DNM1L dynamin 1 like gene DOID:9000220 Coxsackievirus Infections ISO RGD:733618 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34365571 12318220 DNM1L dynamin 1 like gene DOID:9005526 Pulmonary Edema of Mountaineers ISO RGD:620416 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:23517027|REF_RGD_ID:12738217 12318220 DNM1L dynamin 1 like gene DOID:9007102 Myocardial Ischemia ISO RGD:733618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12318220 DNM1L dynamin 1 like gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:733619 D RGD:9068941 20230429 RGD PMID:30259997|REF_RGD_ID:329337366 12318220 DNM1L dynamin 1 like gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:620416 D RGD:9068941 20200609 RGD PMID:21820301|REF_RGD_ID:11561956 12318220 DNM1L dynamin 1 like gene DOID:9970 obesity ISO RGD:733618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:26825290|PMID:27328748|PMID:28492532 12318255 ILF2 interleukin enhancer binding factor 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1313940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12318255 ILF2 interleukin enhancer binding factor 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1313940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12318255 ILF2 interleukin enhancer binding factor 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1313940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12318255 ILF2 interleukin enhancer binding factor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1313940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12318255 ILF2 interleukin enhancer binding factor 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313940 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12318255 ILF2 interleukin enhancer binding factor 2 gene DOID:5812 MHC class II deficiency ISO RGD:1313940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12318255 ILF2 interleukin enhancer binding factor 2 gene DOID:630 genetic disease ISO RGD:1313940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318255 ILF2 interleukin enhancer binding factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313940 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12318255 ILF2 interleukin enhancer binding factor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12318273 AKAP1 A-kinase anchoring protein 1 gene DOID:0050777 Joubert syndrome ISO RGD:1343676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12318273 AKAP1 A-kinase anchoring protein 1 gene DOID:10283 prostate cancer ISO RGD:1343676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12318273 AKAP1 A-kinase anchoring protein 1 gene DOID:2316 brain ischemia ISO RGD:620826 D RGD:9068941 20200609 RGD protein:altered expression:parietal cortex, hippocampus (rat) PMID:18323779|REF_RGD_ID:2313128 12318273 AKAP1 A-kinase anchoring protein 1 gene DOID:630 genetic disease ISO RGD:1343676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318273 AKAP1 A-kinase anchoring protein 1 gene DOID:9970 obesity ISO RGD:1343676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20975297 12318303 C9H17orf75 chromosome 9 C17orf75 homolog gene DOID:630 genetic disease ISO RGD:1602870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318317 GATA1 GATA binding protein 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:10621 D RGD:9068941 20200609 RGD PMID:15572684|REF_RGD_ID:10450734 12318317 GATA1 GATA binding protein 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:10621 D RGD:9068941 20220825 MouseDO OMIM:614286 12318317 GATA1 GATA binding protein 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:731384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28963909 12318317 GATA1 GATA binding protein 1 gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:731384 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow PMID:17570514|REF_RGD_ID:10450752 12318317 GATA1 GATA binding protein 1 gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:731384 D RGD:9068941 20200609 RGD PMID:12145700|REF_RGD_ID:10450753 12318317 GATA1 GATA binding protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12318317 GATA1 GATA binding protein 1 gene DOID:0060888 transient myeloproliferative syndrome ISO RGD:731384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transient myeloproliferative syndrome PMID:27993330 12318317 GATA1 GATA binding protein 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:731384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12318317 GATA1 GATA binding protein 1 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:731384 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome | ClinVar Annotator: match by term: Leukemia, megakaryoblastic, of Down syndrome PMID:12172547|PMID:16783379|PMID:22706301|PMID:23704091|PMID:24453067|PMID:27993330|PMID:28492532 12318317 GATA1 GATA binding protein 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:731384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12318317 GATA1 GATA binding protein 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:731384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12318317 GATA1 GATA binding protein 1 gene DOID:0111767 X-linked thrombocytopenia with beta-thalassemia ISO RGD:731384 D RGD:7240710 20180130 OMIM 12318317 GATA1 GATA binding protein 1 gene DOID:0111767 X-linked thrombocytopenia with beta-thalassemia ISO RGD:731384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Beta-thalassemia-X-linked thrombocytopenia syndrome | ClinVar Annotator: match by term: Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis PMID:11809723|PMID:12200364|PMID:14691578|PMID:17148589|PMID:17209061|PMID:17881640|PMID:19172521|PMID:20301538|PMID:23704091|PMID:25741868|PMID:28492532|PMID:871527 12318317 GATA1 GATA binding protein 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:731384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12318317 GATA1 GATA binding protein 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:731384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12318317 GATA1 GATA binding protein 1 gene DOID:0112156 X-linked dyserythropoietic anemia ISO RGD:731384 D RGD:7240710 20180130 OMIM 12318317 GATA1 GATA binding protein 1 gene DOID:0112156 X-linked dyserythropoietic anemia ISO RGD:731384 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES PMID:11809723|PMID:12200364|PMID:14691578|PMID:15895080|PMID:16783379|PMID:17209061|PMID:17881640|PMID:19172521|PMID:20301538|PMID:20729467|PMID:22706301|PMID:23704091|PMID:24453067|PMID:24766296|PMID:24952648|PMID:25741868|PMID:28492532|PMID:29146883|PMID:871527 12318317 GATA1 GATA binding protein 1 gene DOID:12241 beta thalassemia treatment ISO RGD:731384 D RGD:9068941 20200609 RGD PMID:16696909|REF_RGD_ID:10450613 12318317 GATA1 GATA binding protein 1 gene DOID:12849 autistic disorder ISO RGD:731384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12318317 GATA1 GATA binding protein 1 gene DOID:1324 lung cancer ISO RGD:731384 D RGD:9068941 20210716 RGD mRNA:increased expression:regulatory T cell:lung associated T cell PMID:28814673|REF_RGD_ID:149735197 12318317 GATA1 GATA binding protein 1 gene DOID:13271 cutaneous porphyria ISO RGD:731384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous porphyria PMID:12200364|PMID:17148589|PMID:20301538 12318317 GATA1 GATA binding protein 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:731384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:11566888|PMID:11809723|PMID:12200364|PMID:14691578|PMID:15070711|PMID:15895080|PMID:15920471|PMID:16095949|PMID:16199547|PMID:16783379|PMID:17209061|PMID:17881640|PMID:19172521|PMID:20301538|PMID:20729467|PMID:22706301|PMID:23704091|PMID:24255919|PMID:24453067|PMID:24728327|PMID:24766296|PMID:24952648|PMID:25741868|PMID:27993330|PMID:28492532|PMID:29146883|PMID:3164080|PMID:35030251|PMID:8628290|PMID:871527 12318317 GATA1 GATA binding protein 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:731384 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:11809723|PMID:12200364|PMID:14691578|PMID:15895080|PMID:16783379|PMID:17209061|PMID:17881640|PMID:19172521|PMID:20301538|PMID:20729467|PMID:22706301|PMID:23704091|PMID:24453067|PMID:24766296|PMID:24952648|PMID:25741868|PMID:28492532|PMID:29146883|PMID:3164080|PMID:35030251|PMID:871527 12318317 GATA1 GATA binding protein 1 gene DOID:14250 Down syndrome ISO RGD:731384 D RGD:7240710 20180130 OMIM 12318317 GATA1 GATA binding protein 1 gene DOID:14250 Down syndrome ISO RGD:731384 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Complete trisomy 21 syndrome PMID:16783379|PMID:22706301|PMID:23704091|PMID:24453067|PMID:25741868|PMID:28492532 12318317 GATA1 GATA binding protein 1 gene DOID:1470 major depressive disorder ISO RGD:731384 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsolateral prefrontal cortex PMID:22885997|REF_RGD_ID:6892958 12318317 GATA1 GATA binding protein 1 gene DOID:1588 thrombocytopenia ISO RGD:731384 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:11418466|PMID:20301538|PMID:23278136|PMID:25741868|PMID:31064749|PMID:32581362|PMID:34355501 12318317 GATA1 GATA binding protein 1 gene DOID:1596 depressive disorder ISO RGD:10621 D RGD:9068941 20200609 RGD PMID:22885997|REF_RGD_ID:6892958 12318317 GATA1 GATA binding protein 1 gene DOID:1596 depressive disorder ISO RGD:2663 D RGD:9068941 20200609 RGD mRNA:increased expression:prefrontal cortex PMID:22885997|REF_RGD_ID:6892958 12318317 GATA1 GATA binding protein 1 gene DOID:1596 depressive disorder ISO RGD:731384 D RGD:9068941 20210716 RGD PMID:25340772|REF_RGD_ID:11049534 12318317 GATA1 GATA binding protein 1 gene DOID:234 colon adenocarcinoma ISO RGD:731384 D RGD:9068941 20210716 RGD PMID:31069596|REF_RGD_ID:149735196 12318317 GATA1 GATA binding protein 1 gene DOID:2355 anemia ISO RGD:731384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:32581362 12318317 GATA1 GATA binding protein 1 gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:731384 D RGD:9068941 20210716 RGD PMID:25230694|REF_RGD_ID:149735195 12318317 GATA1 GATA binding protein 1 gene DOID:4971 myelofibrosis ISO RGD:10621 D RGD:9068941 20220825 MouseDO OMIM:254450 12318317 GATA1 GATA binding protein 1 gene DOID:4971 myelofibrosis ISO RGD:731384 D RGD:9068941 20200609 RGD PMID:16127162|REF_RGD_ID:10450748 12318317 GATA1 GATA binding protein 1 gene DOID:630 genetic disease ISO RGD:731384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12318317 GATA1 GATA binding protein 1 gene DOID:8432 polycythemia ISO RGD:2663 D RGD:9068941 20210716 RGD mRNA,protein:increased expression:CD71 positive bone marrow cell PMID:27587253|REF_RGD_ID:149735329 12318317 GATA1 GATA binding protein 1 gene DOID:8692 myeloid leukemia ISO RGD:10621 D RGD:9068941 20200609 RGD PMID:23719302|REF_RGD_ID:10450751 12318317 GATA1 GATA binding protein 1 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:731384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia PMID:15070711|PMID:16783379|PMID:22706301|PMID:23704091|PMID:24453067|PMID:28492532 12318317 GATA1 GATA binding protein 1 gene DOID:9000557 Thrombocytopenia 1 ISO RGD:731384 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia;DNA:missense mutation: :p.R216Q (human) PMID:12200364|REF_RGD_ID:10450747 12318317 GATA1 GATA binding protein 1 gene DOID:9000784 Fibrosis ISO RGD:10621 D RGD:9068941 20200609 RGD PMID:15665119|REF_RGD_ID:10450614 12318317 GATA1 GATA binding protein 1 gene DOID:9001937 Hemolytic Anemia due to Elevated Adenosine Deaminase ISO RGD:731384 D RGD:7240710 20220629 OMIM 12318317 GATA1 GATA binding protein 1 gene DOID:9001937 Hemolytic Anemia due to Elevated Adenosine Deaminase ISO RGD:731384 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Adenosine deaminase, elevated, hemolytic anemia due to PMID:28492532|PMID:3164080|PMID:35030251 12318317 GATA1 GATA binding protein 1 gene DOID:9003890 X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia ISO RGD:731384 D RGD:7240710 20180130 OMIM 12318317 GATA1 GATA binding protein 1 gene DOID:9003890 X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia ISO RGD:731384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GATA1-Related X-Linked Cytopenia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, without dyserythropoietic anemia PMID:10700180|PMID:11418466|PMID:11809723|PMID:12200364|PMID:14691578|PMID:15895080|PMID:16783379|PMID:17148589|PMID:17209061|PMID:17881640|PMID:19172521|PMID:20301538|PMID:20729467|PMID:22706301|PMID:23278136|PMID:23704091|PMID:24453067|PMID:24766296|PMID:24952648|PMID:25741868|PMID:28492532|PMID:29146883|PMID:31064749|PMID:3164080|PMID:32581362|PMID:34355501|PMID:35030251|PMID:871527 12318317 GATA1 GATA binding protein 1 gene DOID:9005785 Altitude Sickness ISO RGD:731384 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:bone marrow, mononuclear cell PMID:18078130|REF_RGD_ID:10450750 12318317 GATA1 GATA binding protein 1 gene DOID:9006561 Familial Myelofibrosis ISO RGD:10621 D RGD:9068941 20200609 RGD PMID:12149188|REF_RGD_ID:10450737 12318317 GATA1 GATA binding protein 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:731384 D RGD:9068941 20200609 RGD PMID:7579412|REF_RGD_ID:10450754 12318317 GATA1 GATA binding protein 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:731384 D RGD:9068941 20210716 RGD PMID:31069596|REF_RGD_ID:149735196 12318329 CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:0111404 Jalili syndrome ISO RGD:1313679 D RGD:7240710 20200228 OMIM 12318329 CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:0111404 Jalili syndrome ISO RGD:1313679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jalili syndrome PMID:15173235|PMID:17576681|PMID:19200525|PMID:19200527|PMID:25741868|PMID:28492532|PMID:30718709|PMID:3236352|PMID:9536098 12318329 CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1313679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:25741868|PMID:28492532|PMID:30718709|PMID:9536098 12318329 CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:1059 intellectual disability ISO RGD:1313679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12318329 CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:5419 schizophrenia ISO RGD:1313679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12318329 CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:630 genetic disease ISO RGD:1313679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12318329 CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:8501 fundus dystrophy ISO RGD:1313679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 12318329 CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:9001979 Amaurosis Hypertrichosis ISO RGD:1313679 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12318345 RUFY1 RUN and FYVE domain containing 1 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1312929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 12318345 RUFY1 RUN and FYVE domain containing 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1312929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12318345 RUFY1 RUN and FYVE domain containing 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1312929 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12318345 RUFY1 RUN and FYVE domain containing 1 gene DOID:630 genetic disease ISO RGD:1312929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318382 PPP6R3 protein phosphatase 6 regulatory subunit 3 gene DOID:1059 intellectual disability ISO RGD:1316164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12318382 PPP6R3 protein phosphatase 6 regulatory subunit 3 gene DOID:630 genetic disease ISO RGD:1316164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318382 PPP6R3 protein phosphatase 6 regulatory subunit 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1316164 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12318382 PPP6R3 protein phosphatase 6 regulatory subunit 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1316164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12318424 C28H10orf71 chromosome 28 C10orf71 homolog gene DOID:11372 megacolon ISO RGD:1353451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12318424 C28H10orf71 chromosome 28 C10orf71 homolog gene DOID:5419 schizophrenia ISO RGD:1353451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12318424 C28H10orf71 chromosome 28 C10orf71 homolog gene DOID:630 genetic disease ISO RGD:1353451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318442 UNC13C unc-13 homolog C gene DOID:11836 clubfoot ISO RGD:1354378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868 12318442 UNC13C unc-13 homolog C gene DOID:2717 Bloom syndrome ISO RGD:1354378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12318442 UNC13C unc-13 homolog C gene DOID:630 genetic disease ISO RGD:1354378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318442 UNC13C unc-13 homolog C gene DOID:9256 colorectal cancer ISO RGD:1354378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12318489 PEX5L peroxisomal biogenesis factor 5 like gene DOID:0111546 Currarino syndrome ISO RGD:1345397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12318489 PEX5L peroxisomal biogenesis factor 5 like gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1345397 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 12318489 PEX5L peroxisomal biogenesis factor 5 like gene DOID:630 genetic disease ISO RGD:1345397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318525 WDR36 WD repeat domain 36 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313630 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12318525 WDR36 WD repeat domain 36 gene DOID:0110839 Usher syndrome type 2C ISO RGD:1313630 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2C PMID:15677485|PMID:18172102|PMID:19150991|PMID:22995991|PMID:25333069|PMID:25741868|PMID:28492532 12318525 WDR36 WD repeat domain 36 gene DOID:1067 open-angle glaucoma ISO RGD:1313630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21059646 12318525 WDR36 WD repeat domain 36 gene DOID:1070 primary open angle glaucoma ISO RGD:1313630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:25741868|PMID:28492532 12318525 WDR36 WD repeat domain 36 gene DOID:1070 primary open angle glaucoma no_association ISO RGD:1313630 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.D658G PMID:16876519|REF_RGD_ID:8548466 12318525 WDR36 WD repeat domain 36 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:1313630 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.D658G, N355S, A449T and R529Q (human) PMID:15677485|REF_RGD_ID:8548465 12318525 WDR36 WD repeat domain 36 gene DOID:1686 glaucoma susceptibility ISO RGD:1313630 D RGD:9068941 20200609 RGD DNA:haplotype::rs13153937, rs10038177, rs11241095 (human) PMID:19347049|REF_RGD_ID:8548461 12318525 WDR36 WD repeat domain 36 gene DOID:1686 glaucoma susceptibility ISO RGD:1313630 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:rs10038177(human) PMID:22025897|REF_RGD_ID:8548460 12318525 WDR36 WD repeat domain 36 gene DOID:1686 glaucoma susceptibility ISO RGD:1313630 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.I264V,c.1965-30A>G(human) PMID:17960130|REF_RGD_ID:8548462 12318525 WDR36 WD repeat domain 36 gene DOID:2841 asthma ISO RGD:1313630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198610 12318525 WDR36 WD repeat domain 36 gene DOID:630 genetic disease ISO RGD:1313630 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12318525 WDR36 WD repeat domain 36 gene DOID:8466 retinal degeneration ISO RGD:1550247 D RGD:9068941 20200609 RGD DNA:deletion:cds: PMID:20631153|REF_RGD_ID:8548464 12318525 WDR36 WD repeat domain 36 gene DOID:9002189 High Myopia ISO RGD:1313630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532 12318525 WDR36 WD repeat domain 36 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12318525 WDR36 WD repeat domain 36 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313630 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12318525 WDR36 WD repeat domain 36 gene DOID:9008133 Glaucoma 1, Open Angle, G ISO RGD:1313630 D RGD:7240710 20180130 OMIM 12318525 WDR36 WD repeat domain 36 gene DOID:9008133 Glaucoma 1, Open Angle, G ISO RGD:1313630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, G PMID:15677485|PMID:16723468|PMID:17353431|PMID:17563723|PMID:18172102|PMID:19150991|PMID:22995991|PMID:25333069|PMID:25741868|PMID:28492532 12318552 SKI SKI proto-oncogene gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1342955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12318552 SKI SKI proto-oncogene gene DOID:0060041 autism spectrum disorder ISO RGD:1342955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868|PMID:28492532 12318552 SKI SKI proto-oncogene gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1342955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12318552 SKI SKI proto-oncogene gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1342955 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:17576681|PMID:19112531|PMID:19114989|PMID:20635359|PMID:23023332|PMID:23103230|PMID:23892090|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25326637|PMID:25741868|PMID:28492532|PMID:29168297|PMID:33436942|PMID:9536098 12318552 SKI SKI proto-oncogene gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1342955 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:15979919|PMID:16327884|PMID:17576681|PMID:19112531|PMID:19114989|PMID:20635359|PMID:21699693|PMID:23023332|PMID:23103230|PMID:23892090|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25741868|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:29168297|PMID:29543232|PMID:31322791|PMID:33436942|PMID:7977351|PMID:8449506|PMID:8981946|PMID:9536098 12318552 SKI SKI proto-oncogene gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1342955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:15979919|PMID:16199547|PMID:16327884|PMID:17576681|PMID:19112531|PMID:19114989|PMID:21699693|PMID:23023332|PMID:23103230|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25741868|PMID:27146836|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:28857439|PMID:29168297|PMID:29543232|PMID:31322791|PMID:31980905|PMID:32123317|PMID:33416497|PMID:33436942|PMID:33824467|PMID:7977351|PMID:8449506|PMID:8981946|PMID:9536098 12318552 SKI SKI proto-oncogene gene DOID:0060811 syndromic X-linked intellectual disability Turner type ISO RGD:1342955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type PMID:25741868|PMID:28492532 12318552 SKI SKI proto-oncogene gene DOID:0080074 neural tube defect ISO RGD:1342955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9284043 12318552 SKI SKI proto-oncogene gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1342955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12318552 SKI SKI proto-oncogene gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1342955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12318552 SKI SKI proto-oncogene gene DOID:0110994 Joubert syndrome 25 ISO RGD:1342955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12318552 SKI SKI proto-oncogene gene DOID:0111934 immunodeficiency 38 ISO RGD:1342955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12318552 SKI SKI proto-oncogene gene DOID:0111935 immunodeficiency 16 ISO RGD:1342955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12318552 SKI SKI proto-oncogene gene DOID:1059 intellectual disability ISO RGD:1342955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12318552 SKI SKI proto-oncogene gene DOID:14004 thoracic aortic aneurysm ISO RGD:1342955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 12318552 SKI SKI proto-oncogene gene DOID:14004 thoracic aortic aneurysm ISO RGD:1342955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:15979919|PMID:16327884|PMID:19112531|PMID:21699693|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:29543232|PMID:31322791|PMID:33824467|PMID:7977351|PMID:8449506|PMID:8981946 12318552 SKI SKI proto-oncogene gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1342955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12318552 SKI SKI proto-oncogene gene DOID:3627 aortic aneurysm ISO RGD:1342955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23023332 12318552 SKI SKI proto-oncogene gene DOID:630 genetic disease ISO RGD:1342955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19114989|PMID:23023332|PMID:23103230|PMID:24357594|PMID:24736733|PMID:25741868|PMID:28492532|PMID:31980905|PMID:33416497|PMID:33436942 12318552 SKI SKI proto-oncogene gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:1342955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arterial dissection PMID:28492532 12318552 SKI SKI proto-oncogene gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342955 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23023332|PMID:25363760|PMID:25741868|PMID:33416497 12318552 SKI SKI proto-oncogene gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:1342955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9284043 12318552 SKI SKI proto-oncogene gene DOID:9005890 Disproportionate Tall Stature ISO RGD:1342955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature PMID:25741868|PMID:28492532 12318552 SKI SKI proto-oncogene gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1342955 D RGD:7240710 20180130 OMIM 12318552 SKI SKI proto-oncogene gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1342955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:15979919|PMID:16199547|PMID:16327884|PMID:17576681|PMID:19112531|PMID:19114989|PMID:21699693|PMID:23023332|PMID:23103230|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25741868|PMID:27146836|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:28857439|PMID:29168297|PMID:29543232|PMID:31322791|PMID:31980905|PMID:32123317|PMID:33416497|PMID:33436942|PMID:33824467|PMID:7977351|PMID:8449506|PMID:8981946|PMID:9536098 12318552 SKI SKI proto-oncogene gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1342955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12318552 SKI SKI proto-oncogene gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1342955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9284043 12318578 RPUSD1 RNA pseudouridine synthase domain containing 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1344939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12318578 RPUSD1 RNA pseudouridine synthase domain containing 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1344939 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12318578 RPUSD1 RNA pseudouridine synthase domain containing 1 gene DOID:10283 prostate cancer ISO RGD:1344939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12318578 RPUSD1 RNA pseudouridine synthase domain containing 1 gene DOID:1826 epilepsy ISO RGD:1344939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12318578 RPUSD1 RNA pseudouridine synthase domain containing 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12318578 RPUSD1 RNA pseudouridine synthase domain containing 1 gene DOID:630 genetic disease ISO RGD:1344939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318600 DCUN1D1 defective in cullin neddylation 1 domain containing 1 gene DOID:0111546 Currarino syndrome ISO RGD:1602219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12318600 DCUN1D1 defective in cullin neddylation 1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1602219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318625 MLNR motilin receptor gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1354387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12318625 MLNR motilin receptor gene DOID:1059 intellectual disability ISO RGD:1354387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12318625 MLNR motilin receptor gene DOID:630 genetic disease ISO RGD:1354387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318630 GNRH1 gonadotropin releasing hormone 1 gene DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia ISO RGD:69083 D RGD:7240710 20180130 OMIM 12318630 GNRH1 gonadotropin releasing hormone 1 gene DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia ISO RGD:69083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 12 with or without anosmia | ClinVar Annotator: match by term: Isolated GnRH Deficiency PMID:19535795|PMID:19567835|PMID:26467025|PMID:28492532 12318630 GNRH1 gonadotropin releasing hormone 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19535795 12318630 GNRH1 gonadotropin releasing hormone 1 gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:69083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E PMID:19158810|PMID:20039262|PMID:28492532 12318630 GNRH1 gonadotropin releasing hormone 1 gene DOID:10763 hypertension ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 12318630 GNRH1 gonadotropin releasing hormone 1 gene DOID:11132 prostatic hypertrophy treatment ISO RGD:2720 D RGD:9068941 20200609 RGD PMID:22341819|REF_RGD_ID:10401238 12318630 GNRH1 gonadotropin releasing hormone 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12318630 GNRH1 gonadotropin releasing hormone 1 gene DOID:12336 male infertility ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20063086 12318630 GNRH1 gonadotropin releasing hormone 1 gene DOID:12700 hyperprolactinemia ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2204052 12318630 GNRH1 gonadotropin releasing hormone 1 gene DOID:13938 amenorrhea ISO RGD:69083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 12318630 GNRH1 gonadotropin releasing hormone 1 gene DOID:1612 breast cancer severity ISO RGD:69083 D RGD:9068941 20200609 RGD DNA:SNP:CDS:16Ser allele associated with decreased disease free survival alone (p=0.05) or in combination with the insLQ allele of LHCGR (p=0.001) PMID:17692113|REF_RGD_ID:2292541 12318630 GNRH1 gonadotropin releasing hormone 1 gene DOID:1924 hypogonadism ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20063086 12318630 GNRH1 gonadotropin releasing hormone 1 gene DOID:1924 hypogonadism treatment ISO RGD:1553302 D RGD:9068941 20200609 RGD PMID:3097822|REF_RGD_ID:9685135 12318630 GNRH1 gonadotropin releasing hormone 1 gene DOID:824 periodontitis ISO RGD:69083 D RGD:9068941 20200609 RGD DNA:snp:exon:c.59C>G (human) PMID:15490304|REF_RGD_ID:9685136 12318630 GNRH1 gonadotropin releasing hormone 1 gene DOID:9000053 Headache ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12910066 12318630 GNRH1 gonadotropin releasing hormone 1 gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19261682 12318630 GNRH1 gonadotropin releasing hormone 1 gene DOID:9002395 Hypothermia ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 12318630 GNRH1 gonadotropin releasing hormone 1 gene DOID:9002554 Tachycardia ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 12318630 GNRH1 gonadotropin releasing hormone 1 gene DOID:9007001 Bradycardia ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:6350720 12318630 GNRH1 gonadotropin releasing hormone 1 gene DOID:9007284 Precocious Puberty ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18345393 12318630 GNRH1 gonadotropin releasing hormone 1 gene DOID:9008385 Vomiting ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12910066 12318637 MTBP MDM2 binding protein gene DOID:10283 prostate cancer ISO RGD:1354048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12318637 MTBP MDM2 binding protein gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1354048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12318637 MTBP MDM2 binding protein gene DOID:630 genetic disease ISO RGD:1354048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318637 MTBP MDM2 binding protein gene DOID:684 hepatocellular carcinoma ISO RGD:1354048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29765550 12318666 C20H3orf22 chromosome 20 C3orf22 homolog gene DOID:630 genetic disease ISO RGD:1603560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318666 C20H3orf22 chromosome 20 C3orf22 homolog gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1603560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12318666 C20H3orf22 chromosome 20 C3orf22 homolog gene DOID:9270 alkaptonuria ISO RGD:1603560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12318684 ARRDC2 arrestin domain containing 2 gene DOID:630 genetic disease ISO RGD:1320117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318684 ARRDC2 arrestin domain containing 2 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1320117 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12318699 OR8I2P olfactory receptor family 8 subfamily I member 2, pseudogene gene DOID:1059 intellectual disability ISO RGD:1352416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12318699 OR8I2P olfactory receptor family 8 subfamily I member 2, pseudogene gene DOID:630 genetic disease ISO RGD:1352416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:0060590 XFE progeroid syndrome ISO RGD:1315922 D RGD:9068941 20220825 MouseDO OMIM:610965 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:0080914 cerebrooculofacioskeletal syndrome 4 ISO RGD:1315921 D RGD:7240710 20180130 OMIM 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:0080914 cerebrooculofacioskeletal syndrome 4 ISO RGD:1315921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 PMID:17273966|PMID:23623389|PMID:25741868|PMID:28492532|PMID:33116287|PMID:33315086 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:0110845 xeroderma pigmentosum group D ISO RGD:1315921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group D 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:10534 stomach cancer ameliorates ISO RGD:1315921 D RGD:9068941 20221006 RGD DNA:SNP:intron: (rs3212961) (human) PMID:27340861|REF_RGD_ID:155260339 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:10534 stomach cancer ameliorates ISO RGD:1315921 D RGD:9068941 20221006 RGD mRNA:increased expression:stomach (human) PMID:30417012|REF_RGD_ID:155260342 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:10534 stomach cancer disease_progression ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:SNP:exon:354C>T (human) PMID:26499900|REF_RGD_ID:11340202 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:10534 stomach cancer no_association ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:intron:c.-7-277G>T (human) (rs2298881) PMID:24793015|REF_RGD_ID:13207425 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:10534 stomach cancer severity ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.*197G>T (rs3212986) (human) PMID:27173253|REF_RGD_ID:13207427 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:10534 stomach cancer severity ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snps:exon, intron:c.354T>C, c.-7-277G>T (human) (rs11615, rs2298881) PMID:24318989|REF_RGD_ID:13207309 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:10534 stomach cancer treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD PMID:23338051|REF_RGD_ID:11252163 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:1074 kidney failure treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms;DNA:SNPs: :8092C>A, 19007T>C (human) PMID:19786980|REF_RGD_ID:5688741 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:11476 osteoporosis ISO RGD:1315922 D RGD:9068941 20200609 RGD PMID:23281008|REF_RGD_ID:10045609 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:14227 azoospermia susceptibility ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.8092C>A (human) PMID:18616887|REF_RGD_ID:13207429 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:14566 disease of cellular proliferation ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23203453 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:1574 alcohol use disorder ISO RGD:1306992 D RGD:9068941 20200609 RGD PMID:23095216|REF_RGD_ID:10045658 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:1612 breast cancer susceptibility ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.8092C>A (human) PMID:15958648|REF_RGD_ID:13207317 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.*197G>T (rs3212986) (human) PMID:27050953|REF_RGD_ID:13207426 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:1909 melanoma ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21722328 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.8092C>A (human) PMID:18640939|REF_RGD_ID:13204969 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:224 transient cerebral ischemia treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD human gene in a rat model PMID:19440222|REF_RGD_ID:2313668 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:2355 anemia treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms;DNA:SNP: :rs11615 (human) PMID:25881102|REF_RGD_ID:11252176 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:2394 ovarian cancer disease_progression ISO RGD:1315921 D RGD:9068941 20200609 RGD PMID:21216588|REF_RGD_ID:11252174 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:2962 Cockayne syndrome ISO RGD:1315921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cockayne syndrome PMID:17273966|PMID:23623389 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3070 high grade glioma susceptibility ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:3'utr:c.8092C>A (human) (rs3212986) PMID:25867436|REF_RGD_ID:13207318 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3347 osteosarcoma severity ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:silent mutation:cds:p.N118N (human) PMID:23098477|REF_RGD_ID:13207418 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3748 esophagus squamous cell carcinoma treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD PMID:23263828|REF_RGD_ID:11252162 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3905 lung carcinoma ISO RGD:1306992 D RGD:9068941 20200609 RGD PMID:21530494|REF_RGD_ID:10045659 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3908 lung non-small cell carcinoma ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21553054|PMID:23912706 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1315921 D RGD:9068941 20210604 RGD PMID:23549037|REF_RGD_ID:127229950 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:silent mutation:cds:p.N118N (human) PMID:15140544|REF_RGD_ID:13207428 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1315921 D RGD:9068941 20200609 RGD protein:decreased expression:lung (human) PMID:16957145|REF_RGD_ID:13207308 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1315921 D RGD:9068941 20210604 RGD PMID:24443257|REF_RGD_ID:127229948 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1315921 D RGD:9068941 20221006 RGD DNA:SNPs:multiple (human) PMID:28924235|REF_RGD_ID:153323316 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3910 lung adenocarcinoma ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21327329 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:4914 esophagus adenocarcinoma susceptibility ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snps:cds, 3' utr:c.354C>T, c.8092C>A (human) PMID:18478337|REF_RGD_ID:13207314 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:4971 myelofibrosis ISO RGD:1315921 D RGD:9068941 20200609 RGD PMID:23571153|REF_RGD_ID:11252175 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:574 peripheral nervous system disease ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20979931 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:630 genetic disease ISO RGD:1315921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1315921 D RGD:9068941 20221020 RGD mRNA, protein:increased expression:liver (human) PMID:15922480|REF_RGD_ID:155598683 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:811 lipodystrophy ISO RGD:1315922 D RGD:9068941 20200609 RGD PMID:24011075|REF_RGD_ID:10401088 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:8398 osteoarthritis ISO RGD:1315922 D RGD:9068941 20200609 RGD mRNA:decreased expression:knee, articular cartilage of joint PMID:24964749|REF_RGD_ID:10045611 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:90 degenerative disc disease ISO RGD:1315922 D RGD:9068941 20200609 RGD associated with Progeria PMID:20973062|REF_RGD_ID:13207419 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9000217 Stomach Neoplasms ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21133646 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036326 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19956886 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20801905 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1315921 D RGD:9068941 20200609 RGD associated with Melanoma PMID:26202595|REF_RGD_ID:11252177 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9001276 Failure to Thrive ISO RGD:1315921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:28492532|PMID:33315086 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1315922 D RGD:9068941 20200609 RGD PMID:22212909|REF_RGD_ID:13204968 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9002644 Premature Aging ISO RGD:1315922 D RGD:9068941 20200609 RGD PMID:22323595|REF_RGD_ID:10045610 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9002867 Myeloid Leukemia, Chronic-Phase treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:SNP: :rs11615 (human) PMID:22821389|REF_RGD_ID:11252165 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20934765 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9003613 Laryngeal Neoplasms susceptibility ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:exon:c.354T>C (human) (rs11615) PMID:24582975|REF_RGD_ID:13207310 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9004009 Reperfusion Injury ISO RGD:1306992 D RGD:9068941 20200609 RGD PMID:19440222|REF_RGD_ID:2313668 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9004207 Testicular Neoplasms ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19956886 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD associated with Colorectal Neoplasms;DNA:SNP PMID:23543295|REF_RGD_ID:11340199 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9004814 Chromosome Aberrations ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036326 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9005172 Lung Neoplasms ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30453383 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9005372 Inflammation ISO RGD:1315922 D RGD:9068941 20200609 RGD PMID:24011075|REF_RGD_ID:10401088 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1306992 D RGD:9068941 20200609 RGD PMID:22228707|REF_RGD_ID:7296926 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9006796 Gastrointestinal Neoplasms disease_progression ISO RGD:1315921 D RGD:9068941 20200609 RGD PMID:20461087|REF_RGD_ID:11252166 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA:SNP: :p.Q504K (human) PMID:25495407|REF_RGD_ID:11252168 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD associated with Leukemia, Myeloid, Acute PMID:17197435|REF_RGD_ID:11252178 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9007964 Arsenic Poisoning ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12569548 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:cds:c.354C>T (human) PMID:16144923|REF_RGD_ID:13207315 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.8092C>A (human) PMID:24531312|REF_RGD_ID:13207423 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9119 acute myeloid leukemia ISO RGD:1315921 D RGD:9068941 20200609 RGD PMID:18604718|PMID:21942242|REF_RGD_ID:11252170|REF_RGD_ID:11252171 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9119 acute myeloid leukemia ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R399Q (human) PMID:23397959|REF_RGD_ID:11252193 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9119 acute myeloid leukemia no_association ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:SNP: :p.Q504K (human) PMID:20141440|REF_RGD_ID:11252173 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD PMID:16507781|REF_RGD_ID:11252179 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1315921 D RGD:9068941 20221006 RGD DNA:SNP:exon: (rs3212986) (human) PMID:29151331|REF_RGD_ID:155260348 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1315921 D RGD:9068941 20221006 RGD mRNA:increased expression:colorectum (human) PMID:16951227|REF_RGD_ID:155260343 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:1315921 D RGD:9068941 20220825 RGD DNA:SNP:3'utr: (rs3212986) (human) PMID:29516665|REF_RGD_ID:153344543 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9538 multiple myeloma treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:SNP: :rs735482 (human) PMID:21435719|REF_RGD_ID:10450871 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:SNPs: :8092C>A, 19007G>A (human) PMID:16723154|REF_RGD_ID:11252160 12318703 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :p.R194W, p.R280H, p.R399Q (human) PMID:16435384|REF_RGD_ID:11340204 12318728 LCORL ligand dependent nuclear receptor corepressor like gene DOID:630 genetic disease ISO RGD:1604965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318728 LCORL ligand dependent nuclear receptor corepressor like gene DOID:9003996 Birth Weight ISO RGD:1604965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23202124 12318739 SMAP1 small ArfGAP 1 gene DOID:630 genetic disease ISO RGD:1347252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318767 SCX scleraxis bHLH transcription factor gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1625822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12318767 SCX scleraxis bHLH transcription factor gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1625822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12318767 SCX scleraxis bHLH transcription factor gene DOID:4621 holoprosencephaly ISO RGD:1625822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12318767 SCX scleraxis bHLH transcription factor gene DOID:630 genetic disease ISO RGD:1625822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318777 AMER3 APC membrane recruitment protein 3 gene DOID:5419 schizophrenia ISO RGD:1601927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12318777 AMER3 APC membrane recruitment protein 3 gene DOID:630 genetic disease ISO RGD:1601927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318777 AMER3 APC membrane recruitment protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12318777 AMER3 APC membrane recruitment protein 3 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1601927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 12318899 LOC476445 interferon-inducible GTPase 5-like gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1606259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12318899 LOC476445 interferon-inducible GTPase 5-like gene DOID:5419 schizophrenia ISO RGD:1606259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12318899 LOC476445 interferon-inducible GTPase 5-like gene DOID:630 genetic disease ISO RGD:1606259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318913 CHGB chromogranin B gene DOID:0090103 Huntington's disease-like 1 ISO RGD:737067 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12318913 CHGB chromogranin B gene DOID:10283 prostate cancer ISO RGD:737067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12318913 CHGB chromogranin B gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:737067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12318913 CHGB chromogranin B gene DOID:630 genetic disease ISO RGD:737067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318926 HECTD4 HECT domain E3 ubiquitin protein ligase 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1606926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12318926 HECTD4 HECT domain E3 ubiquitin protein ligase 4 gene DOID:251 alcohol-induced mental disorder ISO RGD:1606926 D RGD:9068941 20230128 CTD CTD Direct Evidence: marker/mechanism PMID:35713687 12318926 HECTD4 HECT domain E3 ubiquitin protein ligase 4 gene DOID:3393 coronary artery disease ISO RGD:1606926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22751097 12318926 HECTD4 HECT domain E3 ubiquitin protein ligase 4 gene DOID:630 genetic disease ISO RGD:1606926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12318926 HECTD4 HECT domain E3 ubiquitin protein ligase 4 gene DOID:9003289 NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM ISO RGD:1606926 D RGD:7240710 20230505 OMIM 12318926 HECTD4 HECT domain E3 ubiquitin protein ligase 4 gene DOID:9003289 NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM ISO RGD:1606926 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum PMID:36401616 12318926 HECTD4 HECT domain E3 ubiquitin protein ligase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1606926 D RGD:9068941 20230128 CTD CTD Direct Evidence: marker/mechanism PMID:35713687 12319011 CTSL3 cathepsin L family member 3 gene DOID:0060180 colitis ISO RGD:10424 D RGD:9068941 20201203 RGD protein:increased activity:cecum, colon, spinal cord PMID:21802389|REF_RGD_ID:5686873 12319011 CTSL3 cathepsin L family member 3 gene DOID:0080599 Coronavirus infectious disease ISO RGD:736036 D RGD:9068941 20201203 CTD CTD Direct Evidence: marker/mechanism PMID:16081529|PMID:23678171|PMID:27733646 12319011 CTSL3 cathepsin L family member 3 gene DOID:0080600 COVID-19 ISO RGD:736036 D RGD:9068941 20201203 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12319011 CTSL3 cathepsin L family member 3 gene DOID:10754 otitis media ISO RGD:2448 D RGD:9068941 20201203 RGD mRNA:decreased expression:middle ear mucosa (rat) PMID:15179208|REF_RGD_ID:1342442 12319011 CTSL3 cathepsin L family member 3 gene DOID:1184 nephrotic syndrome ISO RGD:2448 D RGD:9068941 20201203 RGD mRNA, protein:increased expression:glomerulus (rat) PMID:15197181|REF_RGD_ID:1304337 12319011 CTSL3 cathepsin L family member 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736036 D RGD:9068941 20201203 RGD PMID:19096818|REF_RGD_ID:2315555 12319011 CTSL3 cathepsin L family member 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:10424 D RGD:9068941 20220825 MouseDO 12319011 CTSL3 cathepsin L family member 3 gene DOID:1936 atherosclerosis ISO RGD:733604 D RGD:9068941 20201203 RGD PMID:12213722|REF_RGD_ID:5687152 12319011 CTSL3 cathepsin L family member 3 gene DOID:2316 brain ischemia ISO RGD:2448 D RGD:9068941 20201203 RGD protein:increased activity:cerebrum (rat) PMID:18404379|REF_RGD_ID:2315571 12319011 CTSL3 cathepsin L family member 3 gene DOID:2377 multiple sclerosis ISO RGD:10424 D RGD:9068941 20201203 RGD PMID:17086443|REF_RGD_ID:5686392 12319011 CTSL3 cathepsin L family member 3 gene DOID:2945 severe acute respiratory syndrome ISO RGD:736036 D RGD:9068941 20201203 CTD CTD Direct Evidence: marker/mechanism PMID:16081529|PMID:16339146|PMID:22496216|PMID:23678171 12319011 CTSL3 cathepsin L family member 3 gene DOID:3565 meningioma ISO RGD:736036 D RGD:9068941 20201203 CTD CTD Direct Evidence: marker/mechanism PMID:19747051 12319011 CTSL3 cathepsin L family member 3 gene DOID:4989 pancreatitis ISO RGD:2448 D RGD:9068941 20201203 RGD protein:altered processing:pancreas (rat) PMID:19805911|REF_RGD_ID:2315546 12319011 CTSL3 cathepsin L family member 3 gene DOID:576 proteinuria ISO RGD:736036 D RGD:9068941 20201203 CTD CTD Direct Evidence: marker/mechanism PMID:3669494 12319011 CTSL3 cathepsin L family member 3 gene DOID:630 genetic disease ISO RGD:736036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319011 CTSL3 cathepsin L family member 3 gene DOID:684 hepatocellular carcinoma ISO RGD:2448 D RGD:9068941 20201203 RGD PMID:15641152|REF_RGD_ID:2315605 12319011 CTSL3 cathepsin L family member 3 gene DOID:767 muscular atrophy ISO RGD:2448 D RGD:9068941 20201203 RGD mRNA:increased expression:soleus (rat) PMID:16928772|REF_RGD_ID:2315576 12319011 CTSL3 cathepsin L family member 3 gene DOID:7998 hyperthyroidism ISO RGD:2448 D RGD:9068941 20201203 RGD mRNA:increased expression:extensor digitorum longus (rat) PMID:19777444|REF_RGD_ID:2315547 12319011 CTSL3 cathepsin L family member 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:736036 D RGD:9068941 20201203 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12319011 CTSL3 cathepsin L family member 3 gene DOID:9000934 Sprains and Strains ISO RGD:2448 D RGD:9068941 20201203 RGD mRNA:increased expression:ligament (rat) PMID:15694131|REF_RGD_ID:2315597 12319011 CTSL3 cathepsin L family member 3 gene DOID:9001542 Albuminuria ISO RGD:2448 D RGD:9068941 20201203 RGD associated with Hypertension PMID:19023196|REF_RGD_ID:2315726 12319011 CTSL3 cathepsin L family member 3 gene DOID:9002801 Recurrence ISO RGD:736036 D RGD:9068941 20201203 CTD CTD Direct Evidence: marker/mechanism PMID:19747051 12319011 CTSL3 cathepsin L family member 3 gene DOID:9005166 Contusions ISO RGD:2448 D RGD:9068941 20211224 RGD mRNA, protein:increased expression, increased activity:gastrocnemius (rat) PMID:11788364|REF_RGD_ID:631244 12319011 CTSL3 cathepsin L family member 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2448 D RGD:9068941 20201203 RGD mRNA:increased expression:gastrocnemius muscle (rat) PMID:14718385|REF_RGD_ID:1641826 12319011 CTSL3 cathepsin L family member 3 gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:2448 D RGD:9068941 20201203 RGD protein:increased expression:annulus fibrosus (rat) PMID:15758467|REF_RGD_ID:2315595 12319011 CTSL3 cathepsin L family member 3 gene DOID:9006487 Reoviridae Infections ISO RGD:10424 D RGD:9068941 20201203 RGD PMID:19640986|REF_RGD_ID:5686877 12319011 CTSL3 cathepsin L family member 3 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:2448 D RGD:9068941 20201203 RGD mRNA:increased expression:quadriceps (rat) PMID:16365386|REF_RGD_ID:2315588 12319011 CTSL3 cathepsin L family member 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736036 D RGD:9068941 20201203 RGD protein:increased expression:right auricular appendage (human) PMID:19074676|REF_RGD_ID:2315622 12319011 CTSL3 cathepsin L family member 3 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:10424 D RGD:9068941 20201203 RGD mRNA:increased expression:gastrocnemius muscle (mouse) PMID:12941783|REF_RGD_ID:2315625 12319011 CTSL3 cathepsin L family member 3 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:10424 D RGD:9068941 20201203 RGD PMID:19664906|REF_RGD_ID:2315524 12319020 PHC2 polyhomeotic homolog 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1317380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12319020 PHC2 polyhomeotic homolog 2 gene DOID:630 genetic disease ISO RGD:1317380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319052 ANKDD1A ankyrin repeat and death domain containing 1A gene DOID:0110935 nemaline myopathy 6 ISO RGD:1604469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12319052 ANKDD1A ankyrin repeat and death domain containing 1A gene DOID:2717 Bloom syndrome ISO RGD:1604469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12319052 ANKDD1A ankyrin repeat and death domain containing 1A gene DOID:630 genetic disease ISO RGD:1604469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319052 ANKDD1A ankyrin repeat and death domain containing 1A gene DOID:9256 colorectal cancer ISO RGD:1604469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12319071 BMP4 bone morphogenetic protein 4 gene DOID:0050567 orofacial cleft ISO RGD:730832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofacial cleft 12319071 BMP4 bone morphogenetic protein 4 gene DOID:0050591 tooth agenesis ISO RGD:730832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tooth agenesis 12319071 BMP4 bone morphogenetic protein 4 gene DOID:0050591 tooth agenesis susceptibility ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:SNP: :rs17563(human) PMID:26166641|REF_RGD_ID:13442494 12319071 BMP4 bone morphogenetic protein 4 gene DOID:0050651 atrioventricular septal defect ISO RGD:10244 D RGD:9068941 20220825 MouseDO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 12319071 BMP4 bone morphogenetic protein 4 gene DOID:0050834 CHARGE syndrome ISO RGD:10244 D RGD:9068941 20200609 RGD mRNA:altered localization:brain: PMID:22658483|REF_RGD_ID:9068442 12319071 BMP4 bone morphogenetic protein 4 gene DOID:0060673 Peters anomaly ISO RGD:730832 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:25741868 12319071 BMP4 bone morphogenetic protein 4 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:730832 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:25741868 12319071 BMP4 bone morphogenetic protein 4 gene DOID:0060887 ossification of the posterior longitudinal ligament of spine susceptibility ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:6007C>T(rs17563)(human) PMID:21034624|REF_RGD_ID:9068398 12319071 BMP4 bone morphogenetic protein 4 gene DOID:0080015 physical disorder ISO RGD:10244 D RGD:9068941 20220825 MouseDO 12319071 BMP4 bone morphogenetic protein 4 gene DOID:0080205 CAKUT susceptibility ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2071047,rs17563(human) PMID:24131739|REF_RGD_ID:13442498 12319071 BMP4 bone morphogenetic protein 4 gene DOID:0080207 CAKUT2 ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) PMID:21927809|REF_RGD_ID:13446406 12319071 BMP4 bone morphogenetic protein 4 gene DOID:0080313 cleft palate-lateral synechia syndrome ISO RGD:10244 D RGD:9068941 20220825 MouseDO OMIM:119550 12319071 BMP4 bone morphogenetic protein 4 gene DOID:0080404 orofacial cleft 11 ISO RGD:730832 D RGD:7240710 20180130 OMIM 12319071 BMP4 bone morphogenetic protein 4 gene DOID:0080404 orofacial cleft 11 ISO RGD:730832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Orofacial cleft 11 PMID:12404109|PMID:18252212|PMID:18305125|PMID:18771417|PMID:19249007|PMID:19557432|PMID:19685083|PMID:21340693|PMID:22052794|PMID:22978696|PMID:23227324|PMID:23841782|PMID:24429398|PMID:25741868|PMID:28492532|PMID:30568244|PMID:31053785 12319071 BMP4 bone morphogenetic protein 4 gene DOID:0080636 syndromic microphthalmia ISO RGD:730832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Syndromic Microphthalmia, Dominant PMID:25741868|PMID:28492532 12319071 BMP4 bone morphogenetic protein 4 gene DOID:0090043 dystonia 5 ISO RGD:730832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:17111153|PMID:19332422|PMID:19491146|PMID:25557619|PMID:28492532|PMID:9667588 12319071 BMP4 bone morphogenetic protein 4 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:10244 D RGD:9068941 20220825 MouseDO OMIM:602482 12319071 BMP4 bone morphogenetic protein 4 gene DOID:0110779 hereditary spastic paraplegia 28 ISO RGD:730832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 28 PMID:28492532 12319071 BMP4 bone morphogenetic protein 4 gene DOID:0111535 progressive osseous heteroplasia ISO RGD:730832 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 12319071 BMP4 bone morphogenetic protein 4 gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:730832 D RGD:7240710 20180130 OMIM 12319071 BMP4 bone morphogenetic protein 4 gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:730832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BMP4-Related Syndromic Microphthalmia | ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:12404109|PMID:17003840|PMID:18252212|PMID:18305125|PMID:18771417|PMID:19249007|PMID:19557432|PMID:19685083|PMID:20949628|PMID:21340693|PMID:22052794|PMID:22978696|PMID:23227324|PMID:23841782|PMID:24429398|PMID:25741868|PMID:28492532|PMID:31063268 12319071 BMP4 bone morphogenetic protein 4 gene DOID:10126 keratoconus ISO RGD:730832 D RGD:9068941 20200609 RGD mRNA:increased expression:keratocyte: PMID:19956410|REF_RGD_ID:8699496 12319071 BMP4 bone morphogenetic protein 4 gene DOID:10286 prostate carcinoma disease_progression ISO RGD:730832 D RGD:9068941 20200609 RGD protein:increased expression:prostate PMID:16519147|REF_RGD_ID:1643592 12319071 BMP4 bone morphogenetic protein 4 gene DOID:10652 Alzheimer's disease ISO RGD:10244 D RGD:9068941 20200609 RGD PMID:19463786|REF_RGD_ID:10414082 12319071 BMP4 bone morphogenetic protein 4 gene DOID:11476 osteoporosis ISO RGD:730832 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36453845 12319071 BMP4 bone morphogenetic protein 4 gene DOID:11963 esophagitis ISO RGD:730832 D RGD:9068941 20200609 RGD protein:increased expression:esophagus: PMID:17570215|REF_RGD_ID:8699511 12319071 BMP4 bone morphogenetic protein 4 gene DOID:12185 otosclerosis ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.N150K(human) PMID:24492129|REF_RGD_ID:8699491 12319071 BMP4 bone morphogenetic protein 4 gene DOID:12185 otosclerosis susceptibility ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A152V,rs17563(human) PMID:18021008|REF_RGD_ID:8698669 12319071 BMP4 bone morphogenetic protein 4 gene DOID:1222 cartilage disease treatment ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:16447218|REF_RGD_ID:8699518 12319071 BMP4 bone morphogenetic protein 4 gene DOID:13374 fibrodysplasia ossificans progressiva ISO RGD:10244 D RGD:9068941 20220825 MouseDO OMIM:135100 12319071 BMP4 bone morphogenetic protein 4 gene DOID:13515 tuberous sclerosis ISO RGD:730832 D RGD:9068941 20200609 RGD protein:decreased expression, altered localization:cerebral cortex: PMID:22752548|REF_RGD_ID:9068443 12319071 BMP4 bone morphogenetic protein 4 gene DOID:13938 amenorrhea ISO RGD:730832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12319071 BMP4 bone morphogenetic protein 4 gene DOID:13976 peptic esophagitis ISO RGD:2213 D RGD:9068941 20200609 RGD protein:increased expression:esophagus: PMID:17570215|REF_RGD_ID:8699511 12319071 BMP4 bone morphogenetic protein 4 gene DOID:1612 breast cancer ISO RGD:730832 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:17004110|REF_RGD_ID:1643590 12319071 BMP4 bone morphogenetic protein 4 gene DOID:18 urinary system disease ISO RGD:10244 D RGD:9068941 20220825 MouseDO 12319071 BMP4 bone morphogenetic protein 4 gene DOID:182 calcinosis ISO RGD:730832 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 12319071 BMP4 bone morphogenetic protein 4 gene DOID:1826 epilepsy ISO RGD:2213 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus PMID:17286956|REF_RGD_ID:1643597 12319071 BMP4 bone morphogenetic protein 4 gene DOID:1882 atrial heart septal defect susceptibility ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:SNP: :rs762642(human) PMID:25022354|REF_RGD_ID:13442496 12319071 BMP4 bone morphogenetic protein 4 gene DOID:1909 melanoma susceptibility ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:SNP:cds:6007C>T (rs17563)(human) PMID:19557432|REF_RGD_ID:9068447 12319071 BMP4 bone morphogenetic protein 4 gene DOID:2999 granulosa cell tumor ISO RGD:10244 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:16488995|REF_RGD_ID:1643593 12319071 BMP4 bone morphogenetic protein 4 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:2213 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart: PMID:18280291|REF_RGD_ID:9068407 12319071 BMP4 bone morphogenetic protein 4 gene DOID:4448 macular degeneration ISO RGD:730832 D RGD:9068941 20200609 RGD protein:increased expression:bruch's membrane,pigmented layer of retina: PMID:19158083|REF_RGD_ID:8699495 12319071 BMP4 bone morphogenetic protein 4 gene DOID:4450 renal cell carcinoma severity ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:17644140|REF_RGD_ID:1643589 12319071 BMP4 bone morphogenetic protein 4 gene DOID:5394 prolactinoma ISO RGD:10244 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pituitary gland PMID:12552124|REF_RGD_ID:629544 12319071 BMP4 bone morphogenetic protein 4 gene DOID:5394 prolactinoma ISO RGD:2213 D RGD:9068941 20200609 RGD protein:increased expression:pituitary gland PMID:12552124|REF_RGD_ID:629544 12319071 BMP4 bone morphogenetic protein 4 gene DOID:5394 prolactinoma ISO RGD:730832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16809920 12319071 BMP4 bone morphogenetic protein 4 gene DOID:5394 prolactinoma ISO RGD:730832 D RGD:9068941 20200609 RGD protein:increased expression:pituitary gland PMID:12552124|REF_RGD_ID:629544 12319071 BMP4 bone morphogenetic protein 4 gene DOID:540 strabismus ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:14710472|REF_RGD_ID:8699500 12319071 BMP4 bone morphogenetic protein 4 gene DOID:630 genetic disease ISO RGD:730832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19249007|PMID:21340693|PMID:23841782|PMID:25741868|PMID:28492532 12319071 BMP4 bone morphogenetic protein 4 gene DOID:668 myositis ossificans ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:8678932|REF_RGD_ID:734648 12319071 BMP4 bone morphogenetic protein 4 gene DOID:7004 ACTH-secreting pituitary adenoma ISO RGD:730832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16195406 12319071 BMP4 bone morphogenetic protein 4 gene DOID:7148 rheumatoid arthritis ISO RGD:730832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 12319071 BMP4 bone morphogenetic protein 4 gene DOID:8398 osteoarthritis ISO RGD:730832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2213 D RGD:9068941 20200609 RGD PMID:23770801|REF_RGD_ID:9068404 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:18803859|REF_RGD_ID:9068437 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9000598 Cranial Nerve Injuries ISO RGD:2213 D RGD:9068941 20200609 RGD mRNA:increased expression:superior cervical ganglion PMID:16420416|REF_RGD_ID:2289006 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9000955 Acute Otitis Media ISO RGD:10244 D RGD:9068941 20210611 RGD mRNA:decreased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9001044 Choroidal Neovascularization ISO RGD:10244 D RGD:9068941 20200609 RGD PMID:21411747|PMID:22392094|REF_RGD_ID:8699493|REF_RGD_ID:8699501 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9001471 Anorectal Malformations ISO RGD:2213 D RGD:9068941 20200609 RGD mRNA:decreased expression:hindgut PMID:17161201|REF_RGD_ID:1599527 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9001471 Anorectal Malformations ISO RGD:2213 D RGD:9068941 20200609 RGD mRNA:decreased expression:rectum: PMID:22027561|REF_RGD_ID:9068408 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9001471 Anorectal Malformations severity ISO RGD:730832 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:rectum PMID:20146882|REF_RGD_ID:12798571 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9001547 Tibial Fractures ISO RGD:2213 D RGD:9068941 20200609 RGD protein:increased expression:tibia PMID:16651391|REF_RGD_ID:2289037 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2213 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:16447265|REF_RGD_ID:1643229 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9002209 Skull Fractures treatment ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:16332232|REF_RGD_ID:8699514 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2213 D RGD:9068941 20200609 RGD PMID:22710965|REF_RGD_ID:9068402 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9003036 Oral Lichen Planus ISO RGD:730832 D RGD:9068941 20200609 RGD protein:increased expression:mouth mucosa: PMID:16393252|REF_RGD_ID:9068457 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2213 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:brain: PMID:23236544|REF_RGD_ID:8699519 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9003936 Cardiomegaly ISO RGD:10244 D RGD:9068941 20200609 RGD protein:increased expression:heart: PMID:23747723|REF_RGD_ID:8847123 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:12782598|REF_RGD_ID:2296026 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9004332 Osteoarthritis, Experimental ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:19404941|REF_RGD_ID:9068434 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9004538 Hearing Loss ISO RGD:10244 D RGD:9068941 20200609 RGD PMID:17275231|REF_RGD_ID:8698665 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9004999 APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS ISO RGD:730832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aplasia/hypoplasia involving bones of the lower limbs 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9005988 Multicystic Dysplastic Kidney susceptibility ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:SNP: :rs17563(human) PMID:24131739|REF_RGD_ID:13442498 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9006294 Congenital Limb Deformities ISO RGD:2213 D RGD:9068941 20200609 RGD mRNA:decreased expression:mesoderm: PMID:17661743|REF_RGD_ID:9068432 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9007096 Stroke ISO RGD:2213 D RGD:9068941 20200609 RGD protein:increased expression:brain, astrocyte PMID:16730912|REF_RGD_ID:2289004 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9007402 Gliosis ISO RGD:2213 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:17696121|REF_RGD_ID:1643225 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9007480 Hyperoxia ISO RGD:2213 D RGD:9068941 20200609 RGD PMID:23236544|REF_RGD_ID:8699519 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9008 psoriatic arthritis ISO RGD:730832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9008193 Cartilage Fractures treatment ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:19035511|REF_RGD_ID:9068397 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:730832 D RGD:9068941 20200609 RGD protein:decreased expression, altered localization:cerebral cortex: PMID:22752548|REF_RGD_ID:9068443 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19011631 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:2213 D RGD:9068941 20200609 RGD PMID:16818050|REF_RGD_ID:2289003 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9008550 Vitamin A Deficiency ISO RGD:730832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16120438 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9008763 Femoral Fractures ISO RGD:2213 D RGD:9068941 20200609 RGD mRNA:increased expression:upper leg PMID:10701160|REF_RGD_ID:2289025 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9008763 Femoral Fractures treatment ISO RGD:2213 D RGD:9068941 20200609 RGD PMID:15352071|REF_RGD_ID:9068399 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9008763 Femoral Fractures treatment ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:12810166|REF_RGD_ID:8699510 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9008939 Breast Neoplasms ISO RGD:730832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23180569 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:730832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18280291 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9206 Barrett's esophagus ISO RGD:2213 D RGD:9068941 20200609 RGD protein:increased expression:esophagus: PMID:17570215|REF_RGD_ID:8699511 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9206 Barrett's esophagus ISO RGD:730832 D RGD:9068941 20200609 RGD protein:increased expression:esophagus: PMID:17570215|REF_RGD_ID:8699511 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9282 ocular hypertension ISO RGD:10244 D RGD:9068941 20200609 RGD PMID:11722794|REF_RGD_ID:8698668 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9296 cleft lip ISO RGD:730832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant PMID:12404109|PMID:18771417|PMID:19249007|PMID:19557432|PMID:23227324|PMID:25741868|PMID:28492532 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9296 cleft lip susceptibility ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:SNP: : rs17563 (p.V152A)(human) PMID:23227324|REF_RGD_ID:13442497 12319071 BMP4 bone morphogenetic protein 4 gene DOID:9296 cleft lip susceptibility ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.V152A(human) PMID:18771417|REF_RGD_ID:13442495 12319079 KCTD8 potassium channel tetramerization domain containing 8 gene DOID:630 genetic disease ISO RGD:1323784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319085 ZNF444 zinc finger protein 444 gene DOID:630 genetic disease ISO RGD:1312520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319105 TRAPPC6A trafficking protein particle complex subunit 6A gene DOID:630 genetic disease ISO RGD:1601965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319127 CCDC184 coiled-coil domain containing 184 gene DOID:630 genetic disease ISO RGD:1605794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319136 KRT77 keratin 77 gene DOID:630 genetic disease ISO RGD:1352886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319153 COX14 cytochrome c oxidase assembly factor COX14 gene DOID:630 genetic disease ISO RGD:1602844 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12319153 COX14 cytochrome c oxidase assembly factor COX14 gene DOID:9006390 Mitochondrial Complex IV Deficiency, Nuclear Type 10 ISO RGD:1602844 D RGD:7240710 20201111 OMIM 12319153 COX14 cytochrome c oxidase assembly factor COX14 gene DOID:9006390 Mitochondrial Complex IV Deficiency, Nuclear Type 10 ISO RGD:1602844 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 PMID:22243966|PMID:25741868|PMID:28492532 12319210 PPP1CB protein phosphatase 1 catalytic subunit beta gene DOID:0080693 Noonan syndrome-like disorder with loose anagen hair 2 ISO RGD:731669 D RGD:7240710 20190315 OMIM 12319210 PPP1CB protein phosphatase 1 catalytic subunit beta gene DOID:0080693 Noonan syndrome-like disorder with loose anagen hair 2 ISO RGD:731669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 2 PMID:24033266|PMID:25741868|PMID:25741869|PMID:27264673|PMID:27681385|PMID:27868344|PMID:28211982|PMID:28492532|PMID:30236064|PMID:30348783|PMID:31474318|PMID:33333793|PMID:33491856 12319210 PPP1CB protein phosphatase 1 catalytic subunit beta gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:731669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12319210 PPP1CB protein phosphatase 1 catalytic subunit beta gene DOID:2785 Dandy-Walker syndrome ISO RGD:731669 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dandy-Walker malformation PMID:25741868|PMID:25741869|PMID:27264673|PMID:27681385|PMID:27868344|PMID:28211982|PMID:28492532|PMID:30348783|PMID:31474318|PMID:33491856 12319210 PPP1CB protein phosphatase 1 catalytic subunit beta gene DOID:3490 Noonan syndrome ISO RGD:731669 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Noonan syndrome PMID:25741868|PMID:25741869|PMID:27264673|PMID:27681385|PMID:27868344|PMID:28211982|PMID:28492532|PMID:30348783|PMID:31474318|PMID:33491856 12319210 PPP1CB protein phosphatase 1 catalytic subunit beta gene DOID:630 genetic disease ISO RGD:731669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:25741869|PMID:27264673|PMID:27681385|PMID:27868344|PMID:28211982|PMID:28492532|PMID:30236064|PMID:30348783|PMID:30577886|PMID:31474318|PMID:33333793|PMID:33491856|PMID:9536098 12319222 AGO2 argonaute RISC catalytic component 2 gene DOID:1790 malignant mesothelioma ISO RGD:732767 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12319222 AGO2 argonaute RISC catalytic component 2 gene DOID:630 genetic disease ISO RGD:732767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:33199684 12319222 AGO2 argonaute RISC catalytic component 2 gene DOID:8692 myeloid leukemia ISO RGD:732767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21535412 12319222 AGO2 argonaute RISC catalytic component 2 gene DOID:9003372 LESSEL-KREIENKAMP SYNDROME ISO RGD:732767 D RGD:7240710 20210217 OMIM 12319222 AGO2 argonaute RISC catalytic component 2 gene DOID:9003372 LESSEL-KREIENKAMP SYNDROME ISO RGD:732767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lessel-Kreienkamp syndrome PMID:25741868|PMID:33199684 12319222 AGO2 argonaute RISC catalytic component 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732767 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12319222 AGO2 argonaute RISC catalytic component 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 12319246 C15H12orf50 chromosome 15 C12orf50 homolog gene DOID:0050777 Joubert syndrome ISO RGD:1605567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:19764032|PMID:23954617|PMID:27821535|PMID:28492532 12319246 C15H12orf50 chromosome 15 C12orf50 homolog gene DOID:630 genetic disease ISO RGD:1605567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319268 USP54 ubiquitin specific peptidase 54 gene DOID:630 genetic disease ISO RGD:1343407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319329 RRN3 RRN3 homolog, RNA polymerase I transcription factor gene DOID:12849 autistic disorder ISO RGD:1347637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12319329 RRN3 RRN3 homolog, RNA polymerase I transcription factor gene DOID:14330 Parkinson's disease ISO RGD:1553236 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 12319329 RRN3 RRN3 homolog, RNA polymerase I transcription factor gene DOID:1826 epilepsy ISO RGD:1347637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12319329 RRN3 RRN3 homolog, RNA polymerase I transcription factor gene DOID:5419 schizophrenia ISO RGD:1347637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12319329 RRN3 RRN3 homolog, RNA polymerase I transcription factor gene DOID:630 genetic disease ISO RGD:1347637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319351 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1313199 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12319351 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1313199 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12319351 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:0080600 COVID-19 ISO RGD:1313199 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12319351 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:0110391 retinitis pigmentosa 31 ISO RGD:1313199 D RGD:7240710 20180130 OMIM 12319351 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:0110391 retinitis pigmentosa 31 ISO RGD:1313199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 31 PMID:16189705|PMID:17924349|PMID:18509552|PMID:23950152|PMID:25741868|PMID:26720483|PMID:28076437|PMID:28492532 12319351 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1313199 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12319351 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:10283 prostate cancer ISO RGD:1313199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12319351 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:10584 retinitis pigmentosa ISO RGD:1313199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18509552|PMID:19373681|PMID:22334370|PMID:25741868|PMID:28041643|PMID:28166811|PMID:28492532|PMID:30718709 12319351 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:10584 retinitis pigmentosa ISO RGD:1313199 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18509552|PMID:19373681|PMID:22334370|PMID:25741868|PMID:28041643|PMID:28492532|PMID:30718709 12319351 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:3347 osteosarcoma ISO RGD:1313199 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14767549 12319351 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1313199 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12319351 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:8501 fundus dystrophy ISO RGD:1313199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17924349|PMID:18509552|PMID:22581970|PMID:23950152|PMID:26155838|PMID:26872967|PMID:28076437|PMID:28453362|PMID:28492532 12319351 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313199 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12319351 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:9834 hyperopia ISO RGD:1313199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypermetropia PMID:25741868|PMID:26720483|PMID:28492532 12319351 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:9870 galactosemia ISO RGD:1313199 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12319361 FAM91A1 family with sequence similarity 91 member A1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1605857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12319361 FAM91A1 family with sequence similarity 91 member A1 gene DOID:630 genetic disease ISO RGD:1605857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319392 ZDHHC24 zinc finger DHHC-type containing 24 gene DOID:0050439 Usher syndrome ISO RGD:1602172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21642631|PMID:22581970|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:28041643|PMID:28492532|PMID:29264490|PMID:30614526|PMID:30718709|PMID:33532864 12319392 ZDHHC24 zinc finger DHHC-type containing 24 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1602172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:10564830|PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:12920096|PMID:15314642|PMID:15666242|PMID:15770229|PMID:16199547|PMID:16327777|PMID:16582908|PMID:16877420|PMID:17003356|PMID:17065520|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:19858128|PMID:20177705|PMID:20301537|PMID:20472660|PMID:20498079|PMID:20876674|PMID:21052717|PMID:21258341|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23432027|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24400638|PMID:24746959|PMID:25074776|PMID:25170860|PMID:25326635|PMID:25741868|PMID:25982971|PMID:25988237|PMID:26467025|PMID:26518167|PMID:26566502|PMID:26872967|PMID:27032803|PMID:27434533|PMID:27624628|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28143435|PMID:28224992|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29264490|PMID:29588463|PMID:30076350|PMID:30259503|PMID:30484961|PMID:30614526|PMID:30718709|PMID:31130284|PMID:31836858|PMID:32165824|PMID:32349990|PMID:32451492|PMID:33532864|PMID:33594065|PMID:34526762|PMID:9536098 12319392 ZDHHC24 zinc finger DHHC-type containing 24 gene DOID:10584 retinitis pigmentosa ISO RGD:1602172 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:15770229|PMID:16327777|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21517826|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22940089|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24746959|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28492532|PMID:29264490|PMID:30614526|PMID:30718709|PMID:33532864 12319392 ZDHHC24 zinc finger DHHC-type containing 24 gene DOID:10584 retinitis pigmentosa ISO RGD:1602172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:15770229|PMID:16327777|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24746959|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28492532|PMID:29264490|PMID:29588463|PMID:30614526|PMID:30718709|PMID:33532864|PMID:34526762|PMID:9536098 12319392 ZDHHC24 zinc finger DHHC-type containing 24 gene DOID:1059 intellectual disability ISO RGD:1602172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12319392 ZDHHC24 zinc finger DHHC-type containing 24 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602172 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:10564830|PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:12920096|PMID:15314642|PMID:15666242|PMID:15770229|PMID:16199547|PMID:16327777|PMID:16877420|PMID:17003356|PMID:17065520|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:19858128|PMID:20177705|PMID:20301537|PMID:20472660|PMID:20498079|PMID:20876674|PMID:21052717|PMID:21209035|PMID:21258341|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23432027|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24400638|PMID:24611592|PMID:24746959|PMID:25074776|PMID:25170860|PMID:25326635|PMID:25741868|PMID:25982971|PMID:25988237|PMID:26467025|PMID:26518167|PMID:26872967|PMID:27032803|PMID:27434533|PMID:27486776|PMID:27624628|PMID:27659767|PMID:27788217|PMID:27894351|PMID:28041643|PMID:28224992|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28991257|PMID:29099798|PMID:29264490|PMID:29588463|PMID:30076350|PMID:30259503|PMID:30614526|PMID:30718709|PMID:31130284|PMID:31836858|PMID:32165824|PMID:32349990|PMID:32451492|PMID:32552793|PMID:33532864|PMID:33594065|PMID:34526762|PMID:35886001|PMID:9536098 12319392 ZDHHC24 zinc finger DHHC-type containing 24 gene DOID:630 genetic disease ISO RGD:1602172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:15770229|PMID:16327777|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20177705|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24746959|PMID:25074776|PMID:25326635|PMID:25741868|PMID:25988237|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28341476|PMID:28492532|PMID:29264490|PMID:29588463|PMID:30614526|PMID:30718709|PMID:32349990|PMID:33532864|PMID:33594065|PMID:34526762|PMID:9536098 12319392 ZDHHC24 zinc finger DHHC-type containing 24 gene DOID:8501 fundus dystrophy ISO RGD:1602172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:12920096|PMID:15314642|PMID:16199547|PMID:17065520|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20301537|PMID:20472660|PMID:20498079|PMID:21052717|PMID:21520335|PMID:21642631|PMID:22581970|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29264490|PMID:30614526|PMID:30718709|PMID:33532864 12319392 ZDHHC24 zinc finger DHHC-type containing 24 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1602172 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12319392 ZDHHC24 zinc finger DHHC-type containing 24 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1602172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12319399 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:732196 D RGD:9068941 20220825 RGD protein:decreased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 12319399 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:0060074 ductal carcinoma in situ ISO RGD:732196 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:breast PMID:17254320|REF_RGD_ID:2293756 12319399 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:732196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 12319399 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:10534 stomach cancer ISO RGD:732196 D RGD:9068941 20220826 RGD DNA:SNP:5' utr (human) PMID:28169308|REF_RGD_ID:153344570 12319399 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:1059 intellectual disability ISO RGD:732196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12319399 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:11832 visual epilepsy ISO RGD:2627 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:11488404|REF_RGD_ID:2293787 12319399 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:13533 osteopetrosis ISO RGD:10597 D RGD:9068941 20200609 RGD PMID:10655067|REF_RGD_ID:737712 12319399 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12319399 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:234 colon adenocarcinoma ISO RGD:732196 D RGD:9068941 20220826 RGD protein:increased expression:colon (human) PMID:22419013|REF_RGD_ID:153344572 12319399 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:2746 glycogen storage disease V ISO RGD:732196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12319399 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:3744 cervical squamous cell carcinoma ISO RGD:732196 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:15514944|REF_RGD_ID:2293757 12319399 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:4451 renal carcinoma ISO RGD:2627 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:9405228|REF_RGD_ID:2293758 12319399 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:6000 congestive heart failure ISO RGD:2627 D RGD:9068941 20200609 RGD PMID:15623567|REF_RGD_ID:2293777 12319399 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:630 genetic disease ISO RGD:732196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319399 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:732196 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12319399 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:9004009 Reperfusion Injury ISO RGD:2627 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:15306117|REF_RGD_ID:1642465 12319399 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:9006947 Fibroadenoma ISO RGD:732196 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:breast PMID:17254320|REF_RGD_ID:2293756 12319399 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:732196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12319399 FOSL1 FOS like 1, AP-1 transcription factor subunit gene DOID:9008939 Breast Neoplasms ISO RGD:732196 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:breast PMID:17254320|REF_RGD_ID:2293756 12319407 OR52K1 olfactory receptor family 52 subfamily K member 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1345673 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12319407 OR52K1 olfactory receptor family 52 subfamily K member 1 gene DOID:630 genetic disease ISO RGD:1345673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319410 ERC1 ELKS/RAB6-interacting/CAST family member 1 gene DOID:630 genetic disease ISO RGD:1604628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319410 ERC1 ELKS/RAB6-interacting/CAST family member 1 gene DOID:9000271 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation ISO RGD:1604628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation PMID:25741868 12319410 ERC1 ELKS/RAB6-interacting/CAST family member 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1604628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12319458 AFAP1L2 actin filament associated protein 1 like 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1321706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29059373 12319458 AFAP1L2 actin filament associated protein 1 like 2 gene DOID:630 genetic disease ISO RGD:1321706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319458 AFAP1L2 actin filament associated protein 1 like 2 gene DOID:9620 vesicoureteral reflux ISO RGD:1321706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vesicoureteral reflux PMID:29351342 12319484 MYBL1 MYB proto-oncogene like 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1315840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12319484 MYBL1 MYB proto-oncogene like 1 gene DOID:0080600 COVID-19 ISO RGD:1315840 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12319484 MYBL1 MYB proto-oncogene like 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1315840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12319484 MYBL1 MYB proto-oncogene like 1 gene DOID:3070 high grade glioma ISO RGD:1315840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23583981 12319484 MYBL1 MYB proto-oncogene like 1 gene DOID:630 genetic disease ISO RGD:1315840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319507 H4C13 H4 clustered histone 13 gene DOID:9003069 Tessadori-van Haaften Neurodevelopmental Syndrome 3 ISO RGD:1316645 D RGD:7240710 20220720 OMIM 12319507 H4C13 H4 clustered histone 13 gene DOID:9003069 Tessadori-van Haaften Neurodevelopmental Syndrome 3 ISO RGD:1316645 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tessadori-Van Haaften neurodevelopmental syndrome 3 PMID:35202563 12319507 H4C13 H4 clustered histone 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316645 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:35202563 12319507 H4C13 H4 clustered histone 13 gene DOID:9007662 Dwarfism with Tall Vertebrae ISO RGD:1316645 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dwarfism with tall vertebrae PMID:25741868 12319514 TNR tenascin R gene DOID:14330 Parkinson's disease ISO RGD:732585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinson disease PMID:26122175|PMID:26595808|PMID:28492532|PMID:33278868 12319514 TNR tenascin R gene DOID:1540 parathyroid carcinoma ISO RGD:732585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12319514 TNR tenascin R gene DOID:3755 antithrombin III deficiency ISO RGD:732585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 12319514 TNR tenascin R gene DOID:630 genetic disease ISO RGD:732585 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26122175|PMID:26595808|PMID:28492532|PMID:32099069|PMID:33278868 12319514 TNR tenascin R gene DOID:9002516 NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS ISO RGD:732585 D RGD:7240710 20220216 OMIM 12319514 TNR tenascin R gene DOID:9002516 NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS ISO RGD:732585 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus | ClinVar Annotator: match by term: Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus PMID:25741868|PMID:28334938|PMID:32099069 12319514 TNR tenascin R gene DOID:9003281 Spontaneous Abortions ISO RGD:732585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12319514 TNR tenascin R gene DOID:9007402 Gliosis ISO RGD:732585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15120744 12319514 TNR tenascin R gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:732585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 12319514 TNR tenascin R gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12319545 TDP1 tyrosyl-DNA phosphodiesterase 1 gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1320052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia 12319545 TDP1 tyrosyl-DNA phosphodiesterase 1 gene DOID:0080054 achondrogenesis type IA ISO RGD:1320052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12319545 TDP1 tyrosyl-DNA phosphodiesterase 1 gene DOID:0090115 spinocerebellar ataxia type 1 with axonal neuropathy ISO RGD:1320052 D RGD:7240710 20180130 OMIM 12319545 TDP1 tyrosyl-DNA phosphodiesterase 1 gene DOID:0090115 spinocerebellar ataxia type 1 with axonal neuropathy ISO RGD:1320052 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 PMID:12244316|PMID:24355542|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28492532|PMID:29641532|PMID:31130284|PMID:32371905 12319545 TDP1 tyrosyl-DNA phosphodiesterase 1 gene DOID:2661 myoepithelioma ISO RGD:1320052 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12319545 TDP1 tyrosyl-DNA phosphodiesterase 1 gene DOID:630 genetic disease ISO RGD:1320052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025 12319574 OR51G2 olfactory receptor family 51 subfamily G member 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1351753 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12319574 OR51G2 olfactory receptor family 51 subfamily G member 2 gene DOID:630 genetic disease ISO RGD:1351753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319580 CST11 cystatin 11 gene DOID:630 genetic disease ISO RGD:735574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319593 MCRIP1 MAPK regulated corepressor interacting protein 1 gene DOID:630 genetic disease ISO RGD:1603840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319609 OTOA otoancorin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1348640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:23173898|PMID:24033266|PMID:28492532|PMID:30303587 12319609 OTOA otoancorin gene DOID:0110480 autosomal recessive nonsyndromic deafness 22 ISO RGD:1348640 D RGD:7240710 20180130 OMIM 12319609 OTOA otoancorin gene DOID:0110480 autosomal recessive nonsyndromic deafness 22 ISO RGD:1348640 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 22 PMID:11972037|PMID:17576681|PMID:19888295|PMID:23173898|PMID:23690975|PMID:23897863|PMID:24033266|PMID:24963352|PMID:25373420|PMID:25741868|PMID:26434960|PMID:27068579|PMID:28492532|PMID:30303587|PMID:30311386|PMID:30740825|PMID:30828794|PMID:31152317|PMID:31827275|PMID:33492714|PMID:33597575|PMID:35802133|PMID:36633841|PMID:9536098 12319609 OTOA otoancorin gene DOID:0110520 autosomal recessive nonsyndromic deafness 7 ISO RGD:1348640 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 7 PMID:35802133|PMID:36633841 12319609 OTOA otoancorin gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1348640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 9 PMID:25741868 12319609 OTOA otoancorin gene DOID:630 genetic disease ISO RGD:1348640 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26969326|PMID:28492532 12319609 OTOA otoancorin gene DOID:9004538 Hearing Loss ISO RGD:1348640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:25741868|PMID:30311386 12319642 GARIN1A golgi associated RAB2 interactor 1A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12319642 GARIN1A golgi associated RAB2 interactor 1A gene DOID:630 genetic disease ISO RGD:1604702 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319654 CYGB cytoglobin gene DOID:0050855 renal fibrosis treatment ISO RGD:69415 D RGD:9068941 20200609 RGD PMID:20719976|REF_RGD_ID:9685174 12319654 CYGB cytoglobin gene DOID:0110405 retinitis pigmentosa 36 ISO RGD:1345183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 36 PMID:16938425|PMID:20507925|PMID:23661369|PMID:23805042|PMID:24992209|PMID:25741868|PMID:28181551|PMID:28492532|PMID:29785639 12319654 CYGB cytoglobin gene DOID:10584 retinitis pigmentosa ISO RGD:1345183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16938425|PMID:17576681|PMID:20507925|PMID:23661369|PMID:23805042|PMID:25741868|PMID:26806561|PMID:28181551|PMID:28492532|PMID:29785639|PMID:9536098 12319654 CYGB cytoglobin gene DOID:12236 primary biliary cholangitis ISO RGD:1345183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12319654 CYGB cytoglobin gene DOID:13619 extrahepatic cholestasis ISO RGD:1345183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12319654 CYGB cytoglobin gene DOID:5082 liver cirrhosis ISO RGD:69415 D RGD:9068941 20200609 RGD PMID:11320098|PMID:16581302|REF_RGD_ID:68672|REF_RGD_ID:9685176 12319654 CYGB cytoglobin gene DOID:557 kidney disease ISO RGD:69415 D RGD:9068941 20200609 RGD PMID:14647402|REF_RGD_ID:9685173 12319654 CYGB cytoglobin gene DOID:630 genetic disease ISO RGD:1345183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12319654 CYGB cytoglobin gene DOID:8501 fundus dystrophy ISO RGD:1345183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16938425|PMID:20507925|PMID:23805042|PMID:25741868|PMID:28181551|PMID:28492532 12319654 CYGB cytoglobin gene DOID:9001196 Nervous System Heredodegenerative Disorders ISO RGD:1345183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16825958 12319654 CYGB cytoglobin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345183 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16581302 12319654 CYGB cytoglobin gene DOID:9004250 Hepatic Insufficiency ISO RGD:1345183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12319654 CYGB cytoglobin gene DOID:9005369 Hepatomegaly ISO RGD:1345183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12319654 CYGB cytoglobin gene DOID:9006190 Chronic Pancreatitis ISO RGD:69415 D RGD:9068941 20200609 RGD PMID:14647402|REF_RGD_ID:9685173 12319668 LOC610887 keratin-associated protein 12-1-like gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1343627 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 12319668 LOC610887 keratin-associated protein 12-1-like gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1343627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12319668 LOC610887 keratin-associated protein 12-1-like gene DOID:0110266 cataract 9 multiple types ISO RGD:1343627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12319668 LOC610887 keratin-associated protein 12-1-like gene DOID:12849 autistic disorder ISO RGD:1343627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12319668 LOC610887 keratin-associated protein 12-1-like gene DOID:630 genetic disease ISO RGD:1343627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319668 LOC610887 keratin-associated protein 12-1-like gene DOID:891 progressive myoclonus epilepsy ISO RGD:1343627 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12319668 LOC610887 keratin-associated protein 12-1-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12319668 LOC610887 keratin-associated protein 12-1-like gene DOID:9263 homocystinuria ISO RGD:1343627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12319668 LOC610887 keratin-associated protein 12-1-like gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12319673 ZNRF2 zinc and ring finger 2 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1352531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 12319673 ZNRF2 zinc and ring finger 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12319673 ZNRF2 zinc and ring finger 2 gene DOID:630 genetic disease ISO RGD:1352531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319683 PLIN5 perilipin 5 gene DOID:13938 amenorrhea ISO RGD:2881444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12319683 PLIN5 perilipin 5 gene DOID:630 genetic disease ISO RGD:2881444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319697 LRRC69 leucine rich repeat containing 69 gene DOID:630 genetic disease ISO RGD:2293909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319723 LTK leukocyte receptor tyrosine kinase gene DOID:11612 polycystic ovary syndrome ISO RGD:1319608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12319723 LTK leukocyte receptor tyrosine kinase gene DOID:2717 Bloom syndrome ISO RGD:1319608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12319723 LTK leukocyte receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1319608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319723 LTK leukocyte receptor tyrosine kinase gene DOID:9256 colorectal cancer ISO RGD:1319608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12319743 TAS2R4 taste 2 receptor member 4 gene DOID:0080690 RASopathy ISO RGD:1342891 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12319743 TAS2R4 taste 2 receptor member 4 gene DOID:630 genetic disease ISO RGD:1342891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319743 TAS2R4 taste 2 receptor member 4 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1342891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 12319813 MIR1296 microRNA mir-1296 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2312969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12319857 OR4D5 olfactory receptor family 4 subfamily D member 5 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1343066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12319857 OR4D5 olfactory receptor family 4 subfamily D member 5 gene DOID:5419 schizophrenia ISO RGD:1343066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12319857 OR4D5 olfactory receptor family 4 subfamily D member 5 gene DOID:630 genetic disease ISO RGD:1343066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319857 OR4D5 olfactory receptor family 4 subfamily D member 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1343066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12319857 OR4D5 olfactory receptor family 4 subfamily D member 5 gene DOID:9007661 Dwarfism ISO RGD:1343066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12319860 METTL25 methyltransferase like 25 gene DOID:630 genetic disease ISO RGD:1602087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319907 DGAT2 diacylglycerol O-acyltransferase 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1352737 D RGD:9068941 20200609 RGD PMID:17618857|REF_RGD_ID:10401056 12319907 DGAT2 diacylglycerol O-acyltransferase 2 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:620329 D RGD:9068941 20200609 RGD PMID:24166662|REF_RGD_ID:10400900 12319907 DGAT2 diacylglycerol O-acyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1352737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12319907 DGAT2 diacylglycerol O-acyltransferase 2 gene DOID:10787 premature menopause ISO RGD:620329 D RGD:9068941 20200609 RGD mRNA:decreased:expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 12319907 DGAT2 diacylglycerol O-acyltransferase 2 gene DOID:13580 cholestasis ISO RGD:1352737 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12319907 DGAT2 diacylglycerol O-acyltransferase 2 gene DOID:630 genetic disease ISO RGD:1352737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12319907 DGAT2 diacylglycerol O-acyltransferase 2 gene DOID:784 chronic kidney disease ISO RGD:620329 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:23045433|REF_RGD_ID:10400847 12319907 DGAT2 diacylglycerol O-acyltransferase 2 gene DOID:9002331 Knee Osteoarthritis severity ISO RGD:1352737 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:fat pad: PMID:21765106|REF_RGD_ID:6893494 12319907 DGAT2 diacylglycerol O-acyltransferase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352737 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17984051 12319907 DGAT2 diacylglycerol O-acyltransferase 2 gene DOID:9452 fatty liver disease treatment ISO RGD:620329 D RGD:9068941 20200609 RGD PMID:17526931|REF_RGD_ID:10400884 12319922 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:0110214 cleft soft palate ISO RGD:1606836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft soft palate PMID:22689593|PMID:25238597|PMID:25741868|PMID:28492532|PMID:29177700|PMID:29178448 12319922 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:12347 osteogenesis imperfecta ISO RGD:1606836 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:22689593|PMID:25086671|PMID:25238597|PMID:25741868|PMID:28492532|PMID:29178448|PMID:32655337 12319922 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:1459 hypothyroidism ISO RGD:3353 D RGD:9068941 20200609 RGD mRNA:decreased expression:multiple organs PMID:15817667|REF_RGD_ID:2314536 12319922 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1606836 D RGD:9068941 20220407 RGD PMID:29072684|REF_RGD_ID:151665822 12319922 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:5082 liver cirrhosis ISO RGD:1606836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 12319922 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:630 genetic disease ISO RGD:1606836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12319922 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1606836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12319922 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:8398 osteoarthritis ISO RGD:1606836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12319922 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1606836 D RGD:9068941 20220407 RGD associated with lung non-small cell carcinoma PMID:29072684|REF_RGD_ID:151665822 12319922 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12319922 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:9002665 Bruck Syndrome 2 ISO RGD:1606836 D RGD:7240710 20180130 OMIM 12319922 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:9002665 Bruck Syndrome 2 ISO RGD:1606836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bruck syndrome 2 PMID:12881513|PMID:15523624|PMID:22689593|PMID:25086671|PMID:25238597|PMID:25741868|PMID:28116328|PMID:28492532|PMID:29177700|PMID:29178448|PMID:31472299|PMID:32655337|PMID:9927692 12319922 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:9004389 Bone Neoplasms ISO RGD:1606836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15865105 12319947 ORAI1 ORAI calcium release-activated calcium modulator 1 gene DOID:0080089 tubular aggregate myopathy 1 ISO RGD:1606201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, tubular aggregate, 1 PMID:28492532 12319947 ORAI1 ORAI calcium release-activated calcium modulator 1 gene DOID:0080686 tubular aggregate myopathy 2 ISO RGD:1606201 D RGD:7240710 20200619 OMIM 12319947 ORAI1 ORAI calcium release-activated calcium modulator 1 gene DOID:0080686 tubular aggregate myopathy 2 ISO RGD:1606201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myopathy, tubular aggregate, 2 PMID:15452313|PMID:24591628|PMID:25227914|PMID:25741868|PMID:27882542|PMID:28492532|PMID:30382595 12319947 ORAI1 ORAI calcium release-activated calcium modulator 1 gene DOID:0111976 immunodeficiency 9 ISO RGD:1606201 D RGD:7240710 20180130 OMIM 12319947 ORAI1 ORAI calcium release-activated calcium modulator 1 gene DOID:0111976 immunodeficiency 9 ISO RGD:1606201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency PMID:16582901|PMID:18187424|PMID:20004786|PMID:23447534|PMID:23613525|PMID:24033266|PMID:25227914|PMID:25741868|PMID:26070885|PMID:26138675|PMID:26576490|PMID:27063589|PMID:27066545|PMID:28058752|PMID:28492532|PMID:29155098|PMID:29184031|PMID:30382595|PMID:31036819|PMID:33361160|PMID:7531512|PMID:7798233|PMID:8814256 12319947 ORAI1 ORAI calcium release-activated calcium modulator 1 gene DOID:10763 hypertension ISO RGD:1606201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19897708 12319947 ORAI1 ORAI calcium release-activated calcium modulator 1 gene DOID:422 congenital structural myopathy ISO RGD:1606201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12319947 ORAI1 ORAI calcium release-activated calcium modulator 1 gene DOID:630 genetic disease ISO RGD:1606201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12319947 ORAI1 ORAI calcium release-activated calcium modulator 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1606201 D RGD:9068941 20220616 RGD associated with stomach cancer; human cells in mouse model PMID:27431311|REF_RGD_ID:152995400 12319953 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1348846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:16199547|PMID:20220177|PMID:27068304|PMID:28492532 12319953 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1348846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:14574644|PMID:16199547|PMID:16326826|PMID:16806930|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18511281|PMID:18787844|PMID:18846676|PMID:19086034|PMID:19272779|PMID:19744956|PMID:19763152|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:20307669|PMID:20826437|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22406018|PMID:22462672|PMID:22950825|PMID:22978647|PMID:23281072|PMID:23466821|PMID:23553667|PMID:23806086|PMID:24033266|PMID:24088041|PMID:25025039|PMID:25188385|PMID:25326637|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26752306|PMID:26794302|PMID:26872463|PMID:27025386|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:28902413|PMID:29184351|PMID:29321516|PMID:29336362|PMID:3000192|PMID:30001926|PMID:30373780|PMID:30653784|PMID:31211173|PMID:31227790|PMID:31346473|PMID:31372974|PMID:31393079|PMID:31634715|PMID:31673878|PMID:31692161|PMID:31827005|PMID:32376792|PMID:33643188|PMID:9536098 12319953 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:1348846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease 12319953 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0060249 scoliosis ISO RGD:1348846 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:20220177|PMID:20301641|PMID:21291453|PMID:22950825|PMID:23806086|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26794302|PMID:28492532 12319953 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12319953 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1348846 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Guérin-Stern syndrome PMID:20220177|PMID:20301641|PMID:21291453|PMID:22950825|PMID:23806086|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26794302|PMID:28492532 12319953 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0110152 Charcot-Marie-Tooth disease type 1B ISO RGD:1348846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1B PMID:25741868|PMID:28492532 12319953 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0110183 Charcot-Marie-Tooth disease type 4C ISO RGD:1348846 D RGD:7240710 20180130 OMIM 12319953 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0110183 Charcot-Marie-Tooth disease type 4C ISO RGD:1348846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4C | ClinVar Annotator: match by term: CMT 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4C PMID:14574644|PMID:16199547|PMID:16326826|PMID:16806930|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18511281|PMID:19086034|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:20826437|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22950825|PMID:22978647|PMID:23281072|PMID:23466821|PMID:23553667|PMID:23806086|PMID:24033266|PMID:24088041|PMID:25025039|PMID:25188385|PMID:25326637|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26752306|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:29184351|PMID:29321516|PMID:30001926|PMID:30653784|PMID:31346473|PMID:31634715|PMID:31673878|PMID:32376792|PMID:9536098 12319953 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1348846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:28492532 12319953 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1348846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:14574644|PMID:16326826|PMID:16806930|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18511281|PMID:18846676|PMID:19086034|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20826437|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22950825|PMID:22978647|PMID:23466821|PMID:23553667|PMID:23806086|PMID:24033266|PMID:25025039|PMID:25188385|PMID:25231362|PMID:25326637|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26752306|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:29184351|PMID:29321516|PMID:29336362|PMID:30001926|PMID:30653784|PMID:31211173|PMID:31346473|PMID:31634715|PMID:31673878|PMID:32376792|PMID:33643188|PMID:9536098 12319953 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1348846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:14574644|PMID:16326826|PMID:16806930|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18511281|PMID:18787844|PMID:18846676|PMID:19086034|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:20826437|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22950825|PMID:22978647|PMID:23466821|PMID:23553667|PMID:23806086|PMID:24033266|PMID:25025039|PMID:25188385|PMID:25231362|PMID:25326637|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26752306|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:29184351|PMID:29321516|PMID:29336362|PMID:3000192|PMID:30001926|PMID:30653784|PMID:31211173|PMID:31346473|PMID:31372974|PMID:31634715|PMID:31673878|PMID:32376792|PMID:33643188|PMID:9536098 12319953 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:12377 spinal muscular atrophy ISO RGD:1348846 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:16199547|PMID:20220177|PMID:25614874|PMID:27068304|PMID:28492532|PMID:31827005 12319953 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:2477 motor peripheral neuropathy ISO RGD:1348846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:25741868|PMID:28492532 12319953 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:3070 high grade glioma ISO RGD:1348846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12319953 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:5419 schizophrenia ISO RGD:1348846 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12319953 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:571 median neuropathy ISO RGD:1348846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mononeuropathy of the Median Nerve PMID:25741868|PMID:26467025|PMID:28492532 12319953 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:574 peripheral nervous system disease ISO RGD:1348846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:22462672|PMID:23466821|PMID:25429913|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30001926 12319953 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:630 genetic disease ISO RGD:1348846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14574644|PMID:16199547|PMID:16806930|PMID:16924012|PMID:18414213|PMID:18511281|PMID:18787844|PMID:18846676|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22950825|PMID:23466821|PMID:23806086|PMID:25025039|PMID:25188385|PMID:25326637|PMID:25429913|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:29336362|PMID:3000192|PMID:30001926|PMID:30653784|PMID:31211173|PMID:31346473|PMID:31372974|PMID:31827005|PMID:32376792|PMID:33643188 12319953 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:870 neuropathy ISO RGD:1348846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:22462672|PMID:23466821|PMID:25429913|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30001926 12319953 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12319953 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:9005946 Mononeuropathy of the Median Nerve, Mild ISO RGD:1348846 D RGD:7240710 20180130 OMIM 12319953 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:9005946 Mononeuropathy of the Median Nerve, Mild ISO RGD:1348846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARPAL TUNNEL SYNDROME, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Mononeuropathy of the median nerve, mild PMID:14574644|PMID:16806930|PMID:16924012|PMID:18414213|PMID:18511281|PMID:19086034|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22950825|PMID:23466821|PMID:23806086|PMID:25025039|PMID:25188385|PMID:25326637|PMID:25429913|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:30001926|PMID:30653784|PMID:31346473|PMID:32376792 12319953 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12319953 SH3TC2 SH3 domain and tetratricopeptide repeats 2 gene DOID:9008305 Talipes Cavus ISO RGD:1348846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pes cavus PMID:25741868|PMID:26392352|PMID:26467025|PMID:26872463|PMID:28492532 12319998 RSPH9 radial spoke head component 9 gene DOID:0050444 infantile Refsum disease ISO RGD:1321745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12319998 RSPH9 radial spoke head component 9 gene DOID:0110601 primary ciliary dyskinesia 12 ISO RGD:1321745 D RGD:7240710 20180130 OMIM 12319998 RSPH9 radial spoke head component 9 gene DOID:0110601 primary ciliary dyskinesia 12 ISO RGD:1321745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 12 PMID:19200523|PMID:23993197|PMID:24033266|PMID:25741868|PMID:28492532 12319998 RSPH9 radial spoke head component 9 gene DOID:630 genetic disease ISO RGD:1321745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12319998 RSPH9 radial spoke head component 9 gene DOID:905 Zellweger syndrome ISO RGD:1321745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12319998 RSPH9 radial spoke head component 9 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:19200523|PMID:22384920|PMID:23993197|PMID:24033266|PMID:24307375|PMID:25741868|PMID:25789548|PMID:28492532|PMID:30067075 12320009 USH1G USH1 protein network component sans gene DOID:0050439 Usher syndrome ISO RGD:1312053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome 12320009 USH1G USH1 protein network component sans gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1312053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:25741868|PMID:30303587 12320009 USH1G USH1 protein network component sans gene DOID:0110826 Usher syndrome type 1 ISO RGD:1312053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:11941484|PMID:12588794|PMID:21569298|PMID:25741868|PMID:28492532 12320009 USH1G USH1 protein network component sans gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1312053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome 12320009 USH1G USH1 protein network component sans gene DOID:0110834 Usher syndrome type 1G ISO RGD:1312053 D RGD:7240710 20180130 OMIM 12320009 USH1G USH1 protein network component sans gene DOID:0110834 Usher syndrome type 1G ISO RGD:1312053 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: USH1G-Related Disorders | ClinVar Annotator: match by term: Usher syndrome type 1G PMID:11941484|PMID:12588794|PMID:15660226|PMID:16283141|PMID:17576681|PMID:17896313|PMID:20142502|PMID:21044053|PMID:22135276|PMID:22219650|PMID:23591405|PMID:24033266|PMID:25255398|PMID:25741868|PMID:26467025|PMID:26878454|PMID:27068579|PMID:27353947|PMID:28224992|PMID:28492532|PMID:28944237|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30828346|PMID:31637240|PMID:33095980|PMID:33946315|PMID:35802133|PMID:36633841|PMID:9536098 12320009 USH1G USH1 protein network component sans gene DOID:630 genetic disease ISO RGD:1312053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 12320009 USH1G USH1 protein network component sans gene DOID:9004538 Hearing Loss ISO RGD:1312053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:25255398|PMID:25741868|PMID:27068579|PMID:27353947|PMID:28492532|PMID:30245029|PMID:30311386|PMID:30828346|PMID:30872814|PMID:31637240 12320009 USH1G USH1 protein network component sans gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1312053 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment PMID:30029624 12320009 USH1G USH1 protein network component sans gene DOID:9008681 Deafness ISO RGD:1312053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:25741868|PMID:30303587 12320015 HOXD1 homeobox D1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1319375 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12320015 HOXD1 homeobox D1 gene DOID:630 genetic disease ISO RGD:1319375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320015 HOXD1 homeobox D1 gene DOID:9000641 Pain ISO RGD:1319375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21151121 12320015 HOXD1 homeobox D1 gene DOID:9002211 Hyperalgesia ISO RGD:1319375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21151121 12320015 HOXD1 homeobox D1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1319375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20852632 12320015 HOXD1 homeobox D1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 12320037 EMILIN2 elastin microfibril interfacer 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1313316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12320037 EMILIN2 elastin microfibril interfacer 2 gene DOID:0110880 holoprosencephaly 4 ISO RGD:1313316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 4 PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:22125506|PMID:28492532 12320037 EMILIN2 elastin microfibril interfacer 2 gene DOID:0111193 facioscapulohumeral muscular dystrophy 2 ISO RGD:1313316 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 PMID:28492532 12320037 EMILIN2 elastin microfibril interfacer 2 gene DOID:1059 intellectual disability ISO RGD:1313316 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12320037 EMILIN2 elastin microfibril interfacer 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1313316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12320037 EMILIN2 elastin microfibril interfacer 2 gene DOID:630 genetic disease ISO RGD:1313316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320037 EMILIN2 elastin microfibril interfacer 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12320037 EMILIN2 elastin microfibril interfacer 2 gene DOID:9005523 Majeed Syndrome ISO RGD:1313316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Majeed syndrome PMID:15994876|PMID:23087183|PMID:28492532 12320051 IFFO2 intermediate filament family orphan 2 gene DOID:0060369 Parkinson's disease 6 ISO RGD:2301100 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12320051 IFFO2 intermediate filament family orphan 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:2301100 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12320051 IFFO2 intermediate filament family orphan 2 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:2301100 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12320051 IFFO2 intermediate filament family orphan 2 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:2301100 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12320051 IFFO2 intermediate filament family orphan 2 gene DOID:630 genetic disease ISO RGD:2301100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320051 IFFO2 intermediate filament family orphan 2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:2301100 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12320066 MIR130A microRNA mir-130a gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1608340 D RGD:9068941 20230420 RGD PMID:27834139|REF_RGD_ID:243065269 12320066 MIR130A microRNA mir-130a gene DOID:1059 intellectual disability ISO RGD:1347329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12320066 MIR130A microRNA mir-130a gene DOID:117 heart cancer ameliorates ISO RGD:1608340 D RGD:9068941 20230330 RGD PMID:30843379|REF_RGD_ID:242905197 12320066 MIR130A microRNA mir-130a gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:1347329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 12320066 MIR130A microRNA mir-130a gene DOID:4989 pancreatitis ISO RGD:1347329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12320066 MIR130A microRNA mir-130a gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1347329 D RGD:9068941 20200609 RGD RNA:decreased expression:PBMC PMID:24801815|REF_RGD_ID:11073600 12320066 MIR130A microRNA mir-130a gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 12320066 MIR130A microRNA mir-130a gene DOID:9001542 Albuminuria ISO RGD:1347329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24223694 12320066 MIR130A microRNA mir-130a gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1347329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 12320066 MIR130A microRNA mir-130a gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25359176|PMID:28545106 12320066 MIR130A microRNA mir-130a gene DOID:9256 colorectal cancer ISO RGD:1347329 D RGD:9068941 20220908 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12320066 MIR130A microRNA mir-130a gene DOID:9970 obesity ISO RGD:1347329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28242765 12320140 RUNX2 RUNX family transcription factor 2 gene DOID:0050328 congenital hypothyroidism ISO RGD:735753 D RGD:9068941 20220825 MouseDO 12320140 RUNX2 RUNX family transcription factor 2 gene DOID:0060001 withdrawal disorder ISO RGD:1348975 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 12320140 RUNX2 RUNX family transcription factor 2 gene DOID:0081025 retinal cone dystrophy 3A ISO RGD:1348975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal cone dystrophy 3A PMID:15629837 12320140 RUNX2 RUNX family transcription factor 2 gene DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome ISO RGD:1348975 D RGD:7240710 20210114 OMIM 12320140 RUNX2 RUNX family transcription factor 2 gene DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome ISO RGD:1348975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome PMID:10521292|PMID:11857736|PMID:16140555|PMID:23290074|PMID:25741868|PMID:28492532|PMID:29891876 12320140 RUNX2 RUNX family transcription factor 2 gene DOID:1184 nephrotic syndrome ISO RGD:1348975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 12320140 RUNX2 RUNX family transcription factor 2 gene DOID:13994 cleidocranial dysplasia ISO RGD:1348975 D RGD:7240710 20210114 OMIM 12320140 RUNX2 RUNX family transcription factor 2 gene DOID:13994 cleidocranial dysplasia ISO RGD:1348975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cleidocranial dysostosis | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, with brachydactyly PMID:10521292|PMID:10545612|PMID:10980549|PMID:11768584|PMID:11857736|PMID:12081718|PMID:12196916|PMID:12424590|PMID:15629837|PMID:15952089|PMID:16221346|PMID:19515746|PMID:19767586|PMID:20648631|PMID:20702542|PMID:21734816|PMID:22023169|PMID:23290074|PMID:24138303|PMID:24222232|PMID:24634175|PMID:25741868|PMID:26380986|PMID:27993330|PMID:28056872|PMID:28492532|PMID:28505335|PMID:28738062|PMID:29891876|PMID:30391578|PMID:31548836|PMID:32360898|PMID:33987976|PMID:9182765|PMID:9207800 12320140 RUNX2 RUNX family transcription factor 2 gene DOID:3347 osteosarcoma ISO RGD:1348975 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:24646477|PMID:25307878 12320140 RUNX2 RUNX family transcription factor 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348975 D RGD:9068941 20210409 RGD mRNA:increased expression:esophagus mucosa PMID:18500170|REF_RGD_ID:126779568 12320140 RUNX2 RUNX family transcription factor 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1348975 D RGD:9068941 20220623 RGD human cells in mouse model PMID:30780105|REF_RGD_ID:152995466 12320140 RUNX2 RUNX family transcription factor 2 gene DOID:4676 uremia ISO RGD:1348975 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 12320140 RUNX2 RUNX family transcription factor 2 gene DOID:630 genetic disease ISO RGD:1348975 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10521292|PMID:20648631|PMID:25741868|PMID:28492532 12320140 RUNX2 RUNX family transcription factor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1348975 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 12320140 RUNX2 RUNX family transcription factor 2 gene DOID:8398 osteoarthritis ISO RGD:1348975 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 12320140 RUNX2 RUNX family transcription factor 2 gene DOID:9000380 Spondylarthritis ISO RGD:1348975 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 12320140 RUNX2 RUNX family transcription factor 2 gene DOID:9002589 Bone Fractures ISO RGD:2282 D RGD:9068941 20210122 RGD PMID:21252473|REF_RGD_ID:11252151 12320140 RUNX2 RUNX family transcription factor 2 gene DOID:9003295 Heterotopic Ossification ISO RGD:2282 D RGD:9068941 20210122 RGD PMID:19940863|REF_RGD_ID:12880052 12320140 RUNX2 RUNX family transcription factor 2 gene DOID:9004912 Hyperoxaluria ISO RGD:2282 D RGD:9068941 20210122 RGD mRNA:increased expression:kidney PMID:26122267|REF_RGD_ID:11251713 12320140 RUNX2 RUNX family transcription factor 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1348975 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 12320140 RUNX2 RUNX family transcription factor 2 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1348975 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 12320140 RUNX2 RUNX family transcription factor 2 gene DOID:9006733 Stomatognathic System Abnormalities ISO RGD:1348975 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:20357738 12320140 RUNX2 RUNX family transcription factor 2 gene DOID:9008 psoriatic arthritis ISO RGD:1348975 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 12320140 RUNX2 RUNX family transcription factor 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1348975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868 12320140 RUNX2 RUNX family transcription factor 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1348975 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:14688224 12320140 RUNX2 RUNX family transcription factor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1348975 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:32198086 12320140 RUNX2 RUNX family transcription factor 2 gene DOID:9009007 Tooth Abnormalities ISO RGD:1348975 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:14688224 12320140 RUNX2 RUNX family transcription factor 2 gene DOID:9256 colorectal cancer ISO RGD:1348975 D RGD:9068941 20210409 RGD PMID:25925209|REF_RGD_ID:126779569 12320141 FOXRED2 FAD dependent oxidoreductase domain containing 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1602317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12320141 FOXRED2 FAD dependent oxidoreductase domain containing 2 gene DOID:630 genetic disease ISO RGD:1602317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320153 GFPT2 glutamine-fructose-6-phosphate transaminase 2 gene DOID:630 genetic disease ISO RGD:1351553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320153 GFPT2 glutamine-fructose-6-phosphate transaminase 2 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:1351553 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:3' utr PMID:14764791|REF_RGD_ID:2307362 12320153 GFPT2 glutamine-fructose-6-phosphate transaminase 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1351553 D RGD:9068941 20200609 RGD DNA:missense mutation, SNPs:exon, 3' utr:multiple PMID:14764791|REF_RGD_ID:2307362 12320176 ACTR3B actin related protein 3B gene DOID:12849 autistic disorder ISO RGD:1603621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12320176 ACTR3B actin related protein 3B gene DOID:630 genetic disease ISO RGD:1603621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320206 CCDC90B coiled-coil domain containing 90B gene DOID:1059 intellectual disability ISO RGD:1605354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12320206 CCDC90B coiled-coil domain containing 90B gene DOID:630 genetic disease ISO RGD:1605354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320229 C21H11orf42 chromosome 21 C11orf42 homolog gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12320229 C21H11orf42 chromosome 21 C11orf42 homolog gene DOID:630 genetic disease ISO RGD:1602976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320241 ATRN attractin gene DOID:0090103 Huntington's disease-like 1 ISO RGD:69117 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12320241 ATRN attractin gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:69117 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12320241 ATRN attractin gene DOID:630 genetic disease ISO RGD:69117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12320241 ATRN attractin gene DOID:9000495 Tremor ISO RGD:69063 D RGD:9068941 20200609 RGD DNA:deletion:exon PMID:12379762|REF_RGD_ID:1299186 12320241 ATRN attractin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12320241 ATRN attractin gene DOID:9002955 Nerve Degeneration ISO RGD:69117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16860906 12320241 ATRN attractin gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:69117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 12320241 ATRN attractin gene DOID:9970 obesity ISO RGD:69118 D RGD:9068941 20200609 RGD PMID:10086355|REF_RGD_ID:734623 12320318 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1348097 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12320318 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:0060898 Parkinson's disease 20 ISO RGD:1348097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12320318 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1348097 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12320318 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:10652 Alzheimer's disease ISO RGD:1348097 D RGD:9068941 20210122 RGD PMID:30266287|REF_RGD_ID:14696823 12320318 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:10652 Alzheimer's disease treatment ISO RGD:734072 D RGD:9068941 20210122 RGD PMID:30266287|REF_RGD_ID:14696823 12320318 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:1459 hypothyroidism ISO RGD:621379 D RGD:9068941 20210122 RGD protein:decreased expression:liver, mitochondrion (rat) PMID:9733093|REF_RGD_ID:13838730 12320318 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:1459 hypothyroidism treatment ISO RGD:621379 D RGD:9068941 20210122 RGD PMID:19878644|REF_RGD_ID:13830874 12320318 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:1826 epilepsy ISO RGD:1348097 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure 12320318 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:3652 Leigh disease ISO RGD:1348097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868 12320318 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1348097 D RGD:9068941 20210122 RGD PMID:28672194|REF_RGD_ID:14696810 12320318 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:5844 myocardial infarction treatment ISO RGD:734072 D RGD:9068941 20210122 RGD PMID:24692845|REF_RGD_ID:13801194 12320318 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:630 genetic disease ISO RGD:1348097 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320318 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:9000392 Fluoride Poisoning ISO RGD:621379 D RGD:9068941 20210122 RGD mRNA:decreased expression:heart, mitochondrion (rat) PMID:21251948|REF_RGD_ID:5131501 12320318 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1348097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868 12320318 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:9002101 Mitochondrial Complex V (ATP Synthase) Deficiency Nuclear Type 7 ISO RGD:1348097 D RGD:7240710 20230505 OMIM 12320318 ATP5PO ATP synthase peripheral stalk subunit OSCP gene DOID:9005698 ZTTK Syndrome ISO RGD:1348097 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 12320329 PRKCI protein kinase C iota gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:1331958 D RGD:9068941 20220825 MouseDO 12320329 PRKCI protein kinase C iota gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:732937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 12320329 PRKCI protein kinase C iota gene DOID:1062 Fanconi syndrome ISO RGD:732937 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 12320329 PRKCI protein kinase C iota gene DOID:12849 autistic disorder ISO RGD:732937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20957522 12320329 PRKCI protein kinase C iota gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:732937 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:breast, cytoplasm PMID:18538170|REF_RGD_ID:2314932 12320329 PRKCI protein kinase C iota gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:732937 D RGD:9068941 20200609 RGD PMID:12888898|REF_RGD_ID:2292460 12320329 PRKCI protein kinase C iota gene DOID:630 genetic disease ISO RGD:732937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320329 PRKCI protein kinase C iota gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620961 D RGD:9068941 20200609 RGD protein:increased expression:ventricle myocardium, membrane fraction PMID:14691046|REF_RGD_ID:2314944 12320329 PRKCI protein kinase C iota gene DOID:9352 type 2 diabetes mellitus ISO RGD:1331958 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 12320329 PRKCI protein kinase C iota gene DOID:9970 obesity ISO RGD:1331958 D RGD:9068941 20220825 MouseDO OMIM:601665 12320351 TSC2 TSC complex subunit 2 gene DOID:0050562 West syndrome ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18345974 12320351 TSC2 TSC complex subunit 2 gene DOID:0050902 medulloblastoma ISO RGD:736193 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:11603814|REF_RGD_ID:11072879 12320351 TSC2 TSC complex subunit 2 gene DOID:0060041 autism spectrum disorder ISO RGD:736193 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:15024740|PMID:17304050|PMID:21572417|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22867869|PMID:23514105|PMID:24033266|PMID:24728327|PMID:25231023|PMID:25401301|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29655203|PMID:30763456|PMID:31623367 12320351 TSC2 TSC complex subunit 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 12320351 TSC2 TSC complex subunit 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:736193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:25741868|PMID:28215400|PMID:28492532 12320351 TSC2 TSC complex subunit 2 gene DOID:0080322 polycystic kidney disease ISO RGD:736193 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:17304050|PMID:22703879|PMID:22903760|PMID:24728327|PMID:25741868|PMID:28492532 12320351 TSC2 TSC complex subunit 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:736193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:10205261|PMID:17304050|PMID:21520333|PMID:25741868|PMID:27859028|PMID:28492532 12320351 TSC2 TSC complex subunit 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736193 D RGD:7240710 20180130 OMIM 12320351 TSC2 TSC complex subunit 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736193 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10069705|PMID:10090883|PMID:10205261|PMID:10206124|PMID:10215407|PMID:10227394|PMID:10330349|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:10905251|PMID:10942116|PMID:11068191|PMID:11112665|PMID:1112665|PMID:11129334|PMID:11208653|PMID:11281455|PMID:11290735|PMID:11403047|PMID:11437991|PMID:11520734|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11810271|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12511557|PMID:12752578|PMID:12869586|PMID:12906785|PMID:12913212|PMID:14508401|PMID:14641237|PMID:14718525|PMID:14756965|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15121792|PMID:15121797|PMID:15141215|PMID:1520333|PMID:15340059|PMID:15483652|PMID:15595939|PMID:15712319|PMID:15798777|PMID:15851026|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16042315|PMID:16114042|PMID:16129702|PMID:16199547|PMID:16237225|PMID:16417848|PMID:16464865|PMID:16554133|PMID:16822245|PMID:16835931|PMID:16877242|PMID:16981987|PMID:17005952|PMID:17034546|PMID:17120248|PMID:17287951|PMID:17304050|PMID:17536269|PMID:17576681|PMID:17671177|PMID:18032745|PMID:18230340|PMID:18302728|PMID:18308511|PMID:18411301|PMID:18414213|PMID:18466115|PMID:18550814|PMID:18695678|PMID:1870099|PMID:18722871|PMID:18772611|PMID:18792920|PMID:18830229|PMID:18854862|PMID:19166931|PMID:19254590|PMID:19258292|PMID:19259131|PMID:19369101|PMID:19419980|PMID:19747374|PMID:19823873|PMID:20108343|PMID:20165957|PMID:2039137|PMID:20399389|PMID:20498439|PMID:20633017|PMID:21252315|PMID:21309039|PMID:21332470|PMID:21407201|PMID:21407264|PMID:21418539|PMID:21510812|PMID:21520333|PMID:21567926|PMID:21572417|PMID:21624971|PMID:21811971|PMID:21846442|PMID:21910228|PMID:22055460|PMID:22161988|PMID:22169896|PMID:22343534|PMID:22490766|PMID:22495309|PMID:22552000|PMID:22558107|PMID:22703879|PMID:22707510|PMID:22748302|PMID:22791573|PMID:22805177|PMID:22867869|PMID:22903760|PMID:22974335|PMID:22995991|PMID:23006675|PMID:23217510|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24053982|PMID:24055113|PMID:24075384|PMID:24271014|PMID:24412076|PMID:24668795|PMID:24728327|PMID:24737435|PMID:24770934|PMID:24789117|PMID:25039834|PMID:25058500|PMID:25088526|PMID:25180276|PMID:25203624|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25363768|PMID:25401301|PMID:25432535|PMID:25498131|PMID:25525159|PMID:25593300|PMID:25599672|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25782670|PMID:25862857|PMID:25892863|PMID:25900779|PMID:25911330|PMID:25927202|PMID:26155992|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26633542|PMID:26637798|PMID:26703369|PMID:26822237|PMID:26994145|PMID:27060308|PMID:27078846|PMID:27153395|PMID:27174333|PMID:27176796|PMID:27185581|PMID:27194594|PMID:27406250|PMID:27493206|PMID:27494029|PMID:27600092|PMID:27621404|PMID:27757534|PMID:27824329|PMID:27854218|PMID:27859028|PMID:27884173|PMID:27930734|PMID:28065512|PMID:28074849|PMID:28087349|PMID:28127866|PMID:28149746|PMID:28178598|PMID:28191889|PMID:28202063|PMID:28211972|PMID:28215400|PMID:28250423|PMID:28302202|PMID:28397210|PMID:28407358|PMID:28409891|PMID:28492532|PMID:28505269|PMID:28600779|PMID:28623545|PMID:28643795|PMID:28659645|PMID:28687356|PMID:28771801|PMID:28786016|PMID:28873162|PMID:28968464|PMID:2903760|PMID:29101226|PMID:29167182|PMID:29196670|PMID:29271092|PMID:29286531|PMID:29308833|PMID:29344138|PMID:29432982|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29642139|PMID:29655203|PMID:29684080|PMID:29740858|PMID:29778030|PMID:29801666|PMID:29868112|PMID:29892012|PMID:29925043|PMID:29926239|PMID:29930392|PMID:29932062|PMID:29933521|PMID:3|PMID:30024541|PMID:30036593|PMID:30086788|PMID:30093976|PMID:30185235|PMID:30255984|PMID:30260069|PMID:30311386|PMID:30336374|PMID:30548481|PMID:30712878|PMID:30763456|PMID:30911571|PMID:30986793|PMID:31005478|PMID:31018109|PMID:31140686 12320351 TSC2 TSC complex subunit 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736193 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:31370276|PMID:31444548|PMID:31525612|PMID:31586081|PMID:31591157|PMID:31623367|PMID:31650098|PMID:31655562|PMID:31780880|PMID:31799751|PMID:31832524|PMID:31855466|PMID:31856217|PMID:31875159|PMID:31927531|PMID:31981491|PMID:32193183|PMID:32211034|PMID:32313033|PMID:32340510|PMID:32382396|PMID:32410215|PMID:32461669|PMID:32502382|PMID:32555378|PMID:32581362|PMID:32647919|PMID:32830346|PMID:32849516|PMID:32860008|PMID:32917028|PMID:32917966|PMID:32964447|PMID:33074564|PMID:33226606|PMID:33391346|PMID:33436626|PMID:33532864|PMID:33575217|PMID:33686467|PMID:34070849|PMID:34489640|PMID:34754157|PMID:35307828|PMID:36232477|PMID:4461062|PMID:5279523|PMID:7581393|PMID:7823706|PMID:8634701|PMID:8799170|PMID:8824881|PMID:8825048|PMID:9045618|PMID:9076719|PMID:9242607|PMID:9285776|PMID:9302281|PMID:9328481|PMID:9361032|PMID:9412784|PMID:9452050|PMID:9463313|PMID:9536098|PMID:9580671|PMID:9829910|PMID:9881533 12320351 TSC2 TSC complex subunit 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 12320351 TSC2 TSC complex subunit 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12320351 TSC2 TSC complex subunit 2 gene DOID:10487 Hirschsprung's disease ISO RGD:736193 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:10205261|PMID:15798777|PMID:17304050|PMID:22703879|PMID:24728327|PMID:25741868|PMID:28492532 12320351 TSC2 TSC complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:17304050|PMID:25741868 12320351 TSC2 TSC complex subunit 2 gene DOID:10652 Alzheimer's disease ISO RGD:736193 D RGD:9068941 20200609 RGD PMID:16341938|REF_RGD_ID:1580518 12320351 TSC2 TSC complex subunit 2 gene DOID:127 leiomyoma ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15937110 12320351 TSC2 TSC complex subunit 2 gene DOID:127 leiomyoma ISO RGD:736193 D RGD:9068941 20200609 RGD PMID:21145542|REF_RGD_ID:11568684 12320351 TSC2 TSC complex subunit 2 gene DOID:12849 autistic disorder ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14627686 12320351 TSC2 TSC complex subunit 2 gene DOID:13223 uterine fibroid ISO RGD:11457 D RGD:9068941 20220825 MouseDO OMIM:150699 12320351 TSC2 TSC complex subunit 2 gene DOID:13515 tuberous sclerosis ISO RGD:736193 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis syndrome PMID:10069705|PMID:10090883|PMID:10205261|PMID:10206124|PMID:10215407|PMID:10227394|PMID:10330349|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:10905251|PMID:10942116|PMID:11068191|PMID:11112665|PMID:1112665|PMID:11208653|PMID:11290735|PMID:11403047|PMID:11437991|PMID:11468687|PMID:11520734|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11810271|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12511557|PMID:12752578|PMID:12906785|PMID:12913212|PMID:14508401|PMID:14641237|PMID:14718525|PMID:14756965|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15121792|PMID:15121797|PMID:1520333|PMID:15236319|PMID:15483652|PMID:15595939|PMID:15712319|PMID:15798777|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16042315|PMID:16114042|PMID:16129702|PMID:16199547|PMID:16237225|PMID:16417848|PMID:16464865|PMID:16554133|PMID:16822245|PMID:16877242|PMID:16981987|PMID:17034546|PMID:17120248|PMID:17304050|PMID:17536269|PMID:17576681|PMID:17681840|PMID:18032745|PMID:18302728|PMID:18308511|PMID:18410267|PMID:18411301|PMID:18414213|PMID:18550814|PMID:18695678|PMID:1870099|PMID:18772611|PMID:18792920|PMID:18830229|PMID:18854862|PMID:19254590|PMID:19258292|PMID:19259131|PMID:19369101|PMID:19419980|PMID:19747374|PMID:19823873|PMID:20108343|PMID:20165957|PMID:2039137|PMID:20399389|PMID:20498439|PMID:20633017|PMID:21309039|PMID:21332470|PMID:21407264|PMID:21418539|PMID:21510812|PMID:21520333|PMID:21567926|PMID:21624971|PMID:21811971|PMID:21846442|PMID:21910228|PMID:22055460|PMID:22161988|PMID:22189265|PMID:22343534|PMID:22490766|PMID:22552000|PMID:22558107|PMID:22703879|PMID:22707510|PMID:22805177|PMID:22867869|PMID:22903760|PMID:22974335|PMID:22995991|PMID:23006675|PMID:23217510|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24055113|PMID:24271014|PMID:24412076|PMID:24668795|PMID:24728327|PMID:24789117|PMID:25039834|PMID:25058500|PMID:25088526|PMID:25180276|PMID:25203624|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25401301|PMID:25432535|PMID:25498131|PMID:25525159|PMID:25593300|PMID:25599672|PMID:25637381|PMID:25741868|PMID:25782670|PMID:25862857|PMID:25911330|PMID:25927202|PMID:26155992|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26633542|PMID:26703369|PMID:26994145|PMID:27060308|PMID:27078846|PMID:27153395|PMID:27174333|PMID:27176796|PMID:27194594|PMID:27406250|PMID:27493206|PMID:27494029|PMID:27600092|PMID:27621404|PMID:27757534|PMID:27854218|PMID:27859028|PMID:27884173|PMID:27930734|PMID:28065512|PMID:28074849|PMID:28087349|PMID:28127866|PMID:28149746|PMID:28178598|PMID:28202063|PMID:28211972|PMID:28250423|PMID:28397210|PMID:28409891|PMID:28492532|PMID:28505269|PMID:28600779|PMID:28623545|PMID:28643795|PMID:28771801|PMID:28786016|PMID:28968464|PMID:2903760|PMID:29101226|PMID:29167182|PMID:29196670|PMID:29271092|PMID:29286531|PMID:29308833|PMID:29344138|PMID:29432982|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29642139|PMID:29655203|PMID:29740858|PMID:29801666|PMID:29925043|PMID:29932062|PMID:29933521|PMID:30024541|PMID:30036593|PMID:30093976|PMID:30185235|PMID:30255984|PMID:30548481|PMID:30712878|PMID:30986793|PMID:31005478|PMID:31018109|PMID:31370276|PMID:31444548|PMID:31586081|PMID:31591157|PMID:31799751|PMID:31855466|PMID:31856217|PMID:31927531|PMID:32211034|PMID:32313033|PMID:32382396|PMID:32461669|PMID:32502382|PMID:32555378|PMID:32581362|PMID:32830346|PMID:32860008|PMID:32917028|PMID:32917966|PMID:33074564|PMID:33391346|PMID:33532864|PMID:34070849|PMID:34489640|PMID:34754157|PMID:36232477|PMID:4461062|PMID:5279523|PMID:7581393|PMID:7823706|PMID:8634701|PMID:8824881|PMID:8825048|PMID:9076719|PMID:9242607|PMID:9285776|PMID:9302281|PMID:9328481|PMID:9361032|PMID:9412784|PMID:9452050|PMID:9463313|PMID:9536098|PMID:9829910|PMID:9881533 12320351 TSC2 TSC complex subunit 2 gene DOID:1612 breast cancer disease_progression ISO RGD:736193 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:breast PMID:15951164|REF_RGD_ID:11568707 12320351 TSC2 TSC complex subunit 2 gene DOID:1749 squamous cell carcinoma ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18538015 12320351 TSC2 TSC complex subunit 2 gene DOID:1793 pancreatic cancer ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19917848 12320351 TSC2 TSC complex subunit 2 gene DOID:1826 epilepsy ISO RGD:736193 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:17304050|PMID:25741868|PMID:26467025|PMID:28492532 12320351 TSC2 TSC complex subunit 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12320351 TSC2 TSC complex subunit 2 gene DOID:2394 ovarian cancer ISO RGD:736193 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:10732801|PMID:15798777|PMID:16114042|PMID:17304050|PMID:18302728|PMID:21309039|PMID:22703879|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:27930734|PMID:28492532|PMID:29641532|PMID:30548481|PMID:32830346|PMID:32917966|PMID:33575217 12320351 TSC2 TSC complex subunit 2 gene DOID:255 hemangioma ISO RGD:11457 D RGD:9068941 20200609 RGD PMID:10096549|REF_RGD_ID:11568655 12320351 TSC2 TSC complex subunit 2 gene DOID:2871 endometrial carcinoma ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 12320351 TSC2 TSC complex subunit 2 gene DOID:3314 angiomyolipoma ISO RGD:736193 D RGD:9068941 20200609 RGD associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney PMID:19265534|REF_RGD_ID:8657154 12320351 TSC2 TSC complex subunit 2 gene DOID:3317 hepatic angiomyolipoma ISO RGD:11457 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:29512829|REF_RGD_ID:21079730 12320351 TSC2 TSC complex subunit 2 gene DOID:3317 hepatic angiomyolipoma ISO RGD:11457 D RGD:9068941 20200609 RGD associated with tuberous sclerosis;DNA:mutations:multiple PMID:22251200|REF_RGD_ID:21079732 12320351 TSC2 TSC complex subunit 2 gene DOID:3317 hepatic angiomyolipoma ISO RGD:3908 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:29512829|REF_RGD_ID:21079730 12320351 TSC2 TSC complex subunit 2 gene DOID:3317 hepatic angiomyolipoma ISO RGD:3908 D RGD:9068941 20200609 RGD associated with tuberous sclerosis;DNA:mutations:multiple PMID:22251200|REF_RGD_ID:21079732 12320351 TSC2 TSC complex subunit 2 gene DOID:3317 hepatic angiomyolipoma ISO RGD:736193 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:29512829|REF_RGD_ID:21079730 12320351 TSC2 TSC complex subunit 2 gene DOID:3317 hepatic angiomyolipoma ISO RGD:736193 D RGD:9068941 20200609 RGD associated with tuberous sclerosis;DNA:mutations:multiple PMID:22251200|REF_RGD_ID:21079732 12320351 TSC2 TSC complex subunit 2 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736193 D RGD:7240710 20180130 OMIM 12320351 TSC2 TSC complex subunit 2 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736193 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lymphangioleiomyomatosis | ClinVar Annotator: match by term: Lymphangiomyomatosis PMID:10090883|PMID:10205261|PMID:10215407|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:10905251|PMID:10942116|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11290735|PMID:11520734|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12752578|PMID:14641237|PMID:14756965|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15483652|PMID:15595939|PMID:15798777|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16114042|PMID:16129702|PMID:16199547|PMID:16464865|PMID:16554133|PMID:16981987|PMID:17034546|PMID:17120248|PMID:17304050|PMID:17536269|PMID:17576681|PMID:18032745|PMID:18302728|PMID:18308511|PMID:18792920|PMID:18854862|PMID:19254590|PMID:19259131|PMID:19369101|PMID:19747374|PMID:19823873|PMID:20108343|PMID:20165957|PMID:20399389|PMID:20633017|PMID:21252315|PMID:21309039|PMID:21332470|PMID:21407264|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:21910228|PMID:22343534|PMID:22552000|PMID:22558107|PMID:22703879|PMID:22805177|PMID:22867869|PMID:22903760|PMID:23006675|PMID:23217510|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24055113|PMID:24271014|PMID:24412076|PMID:24728327|PMID:25039834|PMID:25058500|PMID:25088526|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25432535|PMID:25498131|PMID:25525159|PMID:25599672|PMID:25637381|PMID:25741868|PMID:25862857|PMID:25927202|PMID:26155992|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26540169|PMID:26633542|PMID:26703369|PMID:27153395|PMID:27174333|PMID:27176796|PMID:27406250|PMID:27493206|PMID:27600092|PMID:27757534|PMID:27859028|PMID:27884173|PMID:27930734|PMID:28065512|PMID:28087349|PMID:28127866|PMID:28149746|PMID:28178598|PMID:28250423|PMID:28397210|PMID:28409891|PMID:28492532|PMID:28505269|PMID:28968464|PMID:29167182|PMID:29196670|PMID:29271092|PMID:29286531|PMID:29308833|PMID:29344138|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29801666|PMID:30255984|PMID:30712878|PMID:30986793|PMID:31005478|PMID:31018109|PMID:31370276|PMID:31525612|PMID:31586081|PMID:31591157|PMID:31875159|PMID:32211034|PMID:32313033|PMID:32410215|PMID:32502382|PMID:32555378|PMID:32860008|PMID:34070849|PMID:5279523|PMID:8824881|PMID:9076719|PMID:9285776|PMID:9302281|PMID:9412784|PMID:9463313|PMID:9536098|PMID:9829910 12320351 TSC2 TSC complex subunit 2 gene DOID:3376 bone osteosarcoma ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:25741868|PMID:26822237 12320351 TSC2 TSC complex subunit 2 gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:736193 D RGD:9068941 20200609 RGD PMID:16213898|REF_RGD_ID:11568674 12320351 TSC2 TSC complex subunit 2 gene DOID:4450 renal cell carcinoma ISO RGD:11457 D RGD:9068941 20200609 RGD PMID:10096549|REF_RGD_ID:11568655 12320351 TSC2 TSC complex subunit 2 gene DOID:4450 renal cell carcinoma ISO RGD:3908 D RGD:9068941 20200609 RGD DNA:nonsense mutations;missense mutations; splice-site mutation:multiple PMID:10029074|REF_RGD_ID:68666 12320351 TSC2 TSC complex subunit 2 gene DOID:4450 renal cell carcinoma treatment ISO RGD:3908 D RGD:9068941 20200609 RGD PMID:18695678|REF_RGD_ID:11568661 12320351 TSC2 TSC complex subunit 2 gene DOID:630 genetic disease ISO RGD:736193 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10090883|PMID:10205261|PMID:11112665|PMID:15121797|PMID:15798777|PMID:17304050|PMID:20633017|PMID:21510812|PMID:21520333|PMID:25741868|PMID:25782670|PMID:26467025|PMID:28065512|PMID:28492532|PMID:31785789 12320351 TSC2 TSC complex subunit 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:11457 D RGD:9068941 20200609 RGD protein:decreased expression:liver (human) PMID:24119083|REF_RGD_ID:21079731 12320351 TSC2 TSC complex subunit 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:3908 D RGD:9068941 20200609 RGD protein:decreased expression:liver (human) PMID:24119083|REF_RGD_ID:21079731 12320351 TSC2 TSC complex subunit 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:736193 D RGD:9068941 20200609 RGD protein:decreased expression:liver (human) PMID:24119083|REF_RGD_ID:21079731 12320351 TSC2 TSC complex subunit 2 gene DOID:769 neuroblastoma ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 12320351 TSC2 TSC complex subunit 2 gene DOID:8725 vascular dementia ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:28492532|PMID:35307828 12320351 TSC2 TSC complex subunit 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736193 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:15951164|REF_RGD_ID:11568707 12320351 TSC2 TSC complex subunit 2 gene DOID:9000972 Fever ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic fever PMID:28492532 12320351 TSC2 TSC complex subunit 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11170505|PMID:12110509|PMID:21693435 12320351 TSC2 TSC complex subunit 2 gene DOID:9002453 Cafe-au-Lait Spots ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cafe-au-lait spot PMID:25741868|PMID:28492532|PMID:30311386 12320351 TSC2 TSC complex subunit 2 gene DOID:9002955 Nerve Degeneration ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21419848 12320351 TSC2 TSC complex subunit 2 gene DOID:9003122 Rhabdomyoma ISO RGD:736193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rhabdomyoma PMID:10205261|PMID:17304050|PMID:25741868|PMID:28492532|PMID:32211034|PMID:32313033 12320351 TSC2 TSC complex subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12320351 TSC2 TSC complex subunit 2 gene DOID:9005077 Joint Instability ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:25741868|PMID:28492532|PMID:30311386 12320351 TSC2 TSC complex subunit 2 gene DOID:9005172 Lung Neoplasms ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30008631 12320351 TSC2 TSC complex subunit 2 gene DOID:9005372 Inflammation ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 12320351 TSC2 TSC complex subunit 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3908 D RGD:9068941 20200609 RGD protein:increased threonine phosphorylation:cortex of kidney PMID:18599524|REF_RGD_ID:8657153 12320351 TSC2 TSC complex subunit 2 gene DOID:9006065 Arthralgia ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthralgia PMID:25741868|PMID:28492532|PMID:30311386 12320351 TSC2 TSC complex subunit 2 gene DOID:9006534 Nervous System Malformations ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12320351 TSC2 TSC complex subunit 2 gene DOID:9006741 Acute Hepatitis ISO RGD:3908 D RGD:9068941 20200609 RGD PMID:20033472|REF_RGD_ID:11568659 12320351 TSC2 TSC complex subunit 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736193 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090883|PMID:10205261|PMID:10215407|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11437991|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11810271|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12752578|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15121797|PMID:15141215|PMID:15483652|PMID:15595939|PMID:15798777|PMID:15851026|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16042315|PMID:16114042|PMID:16129702|PMID:16464865|PMID:16554133|PMID:16981987|PMID:17005952|PMID:17120248|PMID:17304050|PMID:17536269|PMID:17576681|PMID:17671177|PMID:18032745|PMID:18302728|PMID:18308511|PMID:18414213|PMID:18722871|PMID:18854862|PMID:19166931|PMID:19254590|PMID:19258292|PMID:19369101|PMID:19747374|PMID:20108343|PMID:20165957|PMID:2039137|PMID:20399389|PMID:20498439|PMID:20633017|PMID:21252315|PMID:21309039|PMID:21332470|PMID:21407264|PMID:21510812|PMID:21520333|PMID:21572417|PMID:21624971|PMID:21811971|PMID:21819393|PMID:21910228|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22867869|PMID:22903760|PMID:22995991|PMID:23006675|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24055113|PMID:24412076|PMID:24425785|PMID:24728327|PMID:24770934|PMID:25058500|PMID:25088526|PMID:25203624|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25432535|PMID:25498131|PMID:25525159|PMID:25599672|PMID:25637381|PMID:25741868|PMID:25782670|PMID:25862857|PMID:25900779|PMID:25911330|PMID:26155992|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26633542|PMID:26703369|PMID:27153395|PMID:27174333|PMID:27176796|PMID:27493206|PMID:27600092|PMID:27884173|PMID:27930734|PMID:28065512|PMID:28087349|PMID:28127866|PMID:28178598|PMID:28211972|PMID:28215400|PMID:28250423|PMID:28397210|PMID:28409891|PMID:28492532|PMID:28505269|PMID:28687356|PMID:28771801|PMID:28873162|PMID:28968464|PMID:29167182|PMID:29271092|PMID:29344138|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29655203|PMID:29740858|PMID:29778030|PMID:29801666|PMID:29868112|PMID:31586081|PMID:31832524|PMID:32193183|PMID:5279523|PMID:8634701|PMID:8824881|PMID:9076719|PMID:9285776|PMID:9302281|PMID:9412784|PMID:9463313|PMID:9536098|PMID:9829910 12320351 TSC2 TSC complex subunit 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736193 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090883|PMID:10205261|PMID:10215407|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11437991|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11810271|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12752578|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15121797|PMID:15141215|PMID:15483652|PMID:15595939|PMID:15798777|PMID:15851026|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16042315|PMID:16114042|PMID:16129702|PMID:16464865|PMID:16554133|PMID:16981987|PMID:17005952|PMID:17120248|PMID:17304050|PMID:17536269|PMID:17576681|PMID:17671177|PMID:18032745|PMID:18302728|PMID:18308511|PMID:18414213|PMID:18722871|PMID:18854862|PMID:19166931|PMID:19254590|PMID:19258292|PMID:19369101|PMID:19747374|PMID:20108343|PMID:20165957|PMID:2039137|PMID:20399389|PMID:20498439|PMID:20633017|PMID:21252315|PMID:21309039|PMID:21332470|PMID:21407264|PMID:21510812|PMID:21520333|PMID:21572417|PMID:21624971|PMID:21811971|PMID:21819393|PMID:21910228|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22867869|PMID:22903760|PMID:22995991|PMID:23006675|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24055113|PMID:24412076|PMID:24425785|PMID:24728327|PMID:24770934|PMID:25058500|PMID:25088526|PMID:25203624|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25432535|PMID:25498131|PMID:25525159|PMID:25599672|PMID:25637381|PMID:25741868|PMID:25782670|PMID:25862857|PMID:25900779|PMID:25911330|PMID:26155992|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26633542|PMID:26703369|PMID:27153395|PMID:27174333|PMID:27176796|PMID:27493206|PMID:27600092|PMID:27884173|PMID:27930734|PMID:28065512|PMID:28087349|PMID:28127866|PMID:28178598|PMID:28211972|PMID:28215400|PMID:28250423|PMID:28397210|PMID:28409891|PMID:28492532|PMID:28505269|PMID:28687356|PMID:28771801|PMID:28873162|PMID:28968464|PMID:2903760|PMID:29167182|PMID:29271092|PMID:29344138|PMID:29432982|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29655203|PMID:29740858|PMID:29778030|PMID:29801666|PMID:29868112|PMID:30093976|PMID:30763456|PMID:31018109|PMID:31586081|PMID:31650098|PMID:31799751|PMID:31832524|PMID:31856217|PMID:32193183|PMID:32313033|PMID:32502382|PMID:32555378|PMID:32830346|PMID:32917028|PMID:32917966|PMID:33226606|PMID:33686467|PMID:34070849|PMID:5279523|PMID:8634701|PMID:8824881|PMID:9076719|PMID:9285776|PMID:9302281|PMID:9412784|PMID:9463313|PMID:9536098|PMID:9829910 12320351 TSC2 TSC complex subunit 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736193 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090883|PMID:10205261|PMID:10215407|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:10905251|PMID:10942116|PMID:11068191|PMID:11112665|PMID:1112665|PMID:11208653|PMID:11290735|PMID:11403047|PMID:11437991|PMID:11520734|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11810271|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12752578|PMID:12869586|PMID:12906785|PMID:14508401|PMID:14641237|PMID:14718525|PMID:14756965|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15121792|PMID:15121797|PMID:15141215|PMID:15483652|PMID:15595939|PMID:15798777|PMID:15851026|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16042315|PMID:16114042|PMID:16129702|PMID:16199547|PMID:16237225|PMID:16417848|PMID:16464865|PMID:16554133|PMID:16822245|PMID:16981987|PMID:17005952|PMID:17034546|PMID:17120248|PMID:17304050|PMID:17536269|PMID:17576681|PMID:17671177|PMID:18032745|PMID:18302728|PMID:18308511|PMID:18411301|PMID:18414213|PMID:18550814|PMID:18722871|PMID:18772611|PMID:18792920|PMID:18854862|PMID:19166931|PMID:19254590|PMID:19258292|PMID:19259131|PMID:19369101|PMID:19747374|PMID:19823873|PMID:20108343|PMID:20165957|PMID:2039137|PMID:20399389|PMID:20498439|PMID:20633017|PMID:21252315|PMID:21309039|PMID:21332470|PMID:21407201|PMID:21407264|PMID:21510812|PMID:21520333|PMID:21572417|PMID:21624971|PMID:21811971|PMID:21846442|PMID:21910228|PMID:22055460|PMID:22161988|PMID:22189265|PMID:22343534|PMID:22490766|PMID:22495309|PMID:22552000|PMID:22558107|PMID:22703879|PMID:22805177|PMID:22867869|PMID:22903760|PMID:22995991|PMID:23006675|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24055113|PMID:24271014|PMID:24412076|PMID:24728327|PMID:24770934|PMID:25039834|PMID:25058500|PMID:25088526|PMID:25180276|PMID:25203624|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25363768|PMID:25401301|PMID:25432535|PMID:25498131|PMID:25525159|PMID:25593300|PMID:25599672|PMID:25637381|PMID:25741868|PMID:25782670|PMID:25862857|PMID:25892863|PMID:25900779|PMID:25911330|PMID:25927202|PMID:26155992|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26633542|PMID:26637798|PMID:26703369|PMID:26994145|PMID:27061015|PMID:27078846|PMID:27153395|PMID:27174333|PMID:27176796|PMID:27406250|PMID:27493206|PMID:27600092|PMID:27621404|PMID:27824329|PMID:27854218|PMID:27859028|PMID:27884173|PMID:27930734|PMID:28065512|PMID:28087349|PMID:28127866|PMID:28149746|PMID:28178598|PMID:28191889|PMID:28202063|PMID:28211972|PMID:28215400|PMID:28250423|PMID:28397210|PMID:28407358|PMID:28409891|PMID:28492532|PMID:28505269|PMID:28623545|PMID:28643795|PMID:28687356|PMID:28771801|PMID:28786016|PMID:28873162|PMID:28968464|PMID:2903760|PMID:29101226|PMID:29167182|PMID:29196670|PMID:29271092|PMID:29286531|PMID:29308833|PMID:29344138|PMID:29432982|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29740858|PMID:29778030|PMID:29801666|PMID:29868112|PMID:29892012|PMID:29930392|PMID:29932062|PMID:29933521|PMID:30024541|PMID:30036593|PMID:30086788|PMID:30093976|PMID:30185235|PMID:30255984|PMID:30311386|PMID:30336374|PMID:30548481|PMID:30712878|PMID:30763456|PMID:30911571|PMID:30986793|PMID:31005478|PMID:31018109|PMID:31370276|PMID:31444548|PMID:31525612|PMID:31586081|PMID:31591157|PMID:31623367|PMID:31650098|PMID:31799751|PMID:31832524|PMID:31856217|PMID:31875159|PMID:31927531|PMID:31981491|PMID:32193183|PMID:32211034|PMID:32313033|PMID:32382396|PMID:32502382|PMID:32555378|PMID:32581362|PMID:32830346|PMID:32849516|PMID:32860008|PMID:32917028|PMID:32917966|PMID:33226606|PMID:33436626|PMID:33532864|PMID:33575217|PMID:33686467|PMID:34070849|PMID:34489640|PMID:34754157|PMID:35307828|PMID:36232477|PMID:5279523|PMID:8634701|PMID:8824881|PMID:9076719|PMID:9285776|PMID:9302281|PMID:9412784|PMID:9463313|PMID:9536098|PMID:9829910 12320351 TSC2 TSC complex subunit 2 gene DOID:9007253 Hamartoma ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hamartoma PMID:25741868 12320351 TSC2 TSC complex subunit 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18538015 12320351 TSC2 TSC complex subunit 2 gene DOID:9007456 Female Infertility ISO RGD:11457 D RGD:9068941 20200609 RGD PMID:25189766|REF_RGD_ID:11568667 12320351 TSC2 TSC complex subunit 2 gene DOID:9007502 Brain Neoplasms ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of brain PMID:10205261|PMID:10533067|PMID:10735580|PMID:11208653|PMID:11603814|PMID:12136241|PMID:15798777|PMID:16114042|PMID:17304050|PMID:18854862|PMID:21309039|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12320351 TSC2 TSC complex subunit 2 gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:736193 D RGD:7240710 20190315 OMIM 12320351 TSC2 TSC complex subunit 2 gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal cortical dysplasia type 2 PMID:15798777|PMID:21309039|PMID:22703879|PMID:22903760|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28215400|PMID:28492532 12320351 TSC2 TSC complex subunit 2 gene DOID:9119 acute myeloid leukemia ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19250671 12320351 TSC2 TSC complex subunit 2 gene DOID:936 brain disease ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21062901 12320405 ITGA7 integrin subunit alpha 7 gene DOID:0050700 cardiomyopathy treatment ISO RGD:71022 D RGD:9068941 20200609 RGD PMID:15632017|REF_RGD_ID:13601980 12320405 ITGA7 integrin subunit alpha 7 gene DOID:0080000 muscular disease ISO RGD:734343 D RGD:9068941 20200609 RGD PMID:9590299|REF_RGD_ID:1600024 12320405 ITGA7 integrin subunit alpha 7 gene DOID:0080600 COVID-19 ISO RGD:734343 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12320405 ITGA7 integrin subunit alpha 7 gene DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency ISO RGD:734343 D RGD:7240710 20180130 OMIM 12320405 ITGA7 integrin subunit alpha 7 gene DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency ISO RGD:734343 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, ITGA7-related | ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency PMID:12057917|PMID:16199547|PMID:17576681|PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532|PMID:31785789|PMID:9536098|PMID:9590299 12320405 ITGA7 integrin subunit alpha 7 gene DOID:11723 Duchenne muscular dystrophy treatment ISO RGD:734343 D RGD:9068941 20200609 RGD PMID:23319059|REF_RGD_ID:13601981 12320405 ITGA7 integrin subunit alpha 7 gene DOID:2349 arteriosclerosis ISO RGD:71022 D RGD:9068941 20200609 RGD Atherogenesis PMID:14988073|REF_RGD_ID:1600025 12320405 ITGA7 integrin subunit alpha 7 gene DOID:630 genetic disease ISO RGD:734343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12320405 ITGA7 integrin subunit alpha 7 gene DOID:9002928 Colonic Neoplasms ISO RGD:734343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12320447 DNAAF10 dynein axonemal assembly factor 10 gene DOID:630 genetic disease ISO RGD:1605887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320459 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:2102 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:15533056|REF_RGD_ID:6904219 12320459 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:735479 D RGD:9068941 20200609 RGD PMID:16622176|REF_RGD_ID:6904147 12320459 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:1074 kidney failure ISO RGD:735479 D RGD:9068941 20200609 RGD PMID:18046670|REF_RGD_ID:6904142 12320459 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:11394 adult respiratory distress syndrome ISO RGD:735479 D RGD:9068941 20200609 RGD PMID:15710155|REF_RGD_ID:6904148 12320459 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:11400 pyelonephritis ISO RGD:735479 D RGD:9068941 20200609 RGD PMID:19205372|REF_RGD_ID:6904156 12320459 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:2671 transitional cell carcinoma ISO RGD:735479 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14644129 12320459 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:2841 asthma ISO RGD:735479 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14621078|REF_RGD_ID:6904149 12320459 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:3021 acute kidney failure ISO RGD:735479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:28885000|PMID:8963945 12320459 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:3021 acute kidney failure ISO RGD:735479 D RGD:9068941 20200609 RGD PMID:8963945|REF_RGD_ID:6904218 12320459 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:3324 mood disorder ISO RGD:735479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29987918 12320459 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:630 genetic disease ISO RGD:735479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320459 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:9000998 Brain Injuries ISO RGD:735479 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:14592616|REF_RGD_ID:6904155 12320459 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735479 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14644129 12320459 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:9005372 Inflammation ISO RGD:735479 D RGD:9068941 20200609 RGD associated with Hypertension PMID:17765145|REF_RGD_ID:6904143 12320459 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12320459 AMBP alpha-1-microglobulin/bikunin precursor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18779383 12320477 HOXA13 homeobox A13 gene DOID:0060739 hand-foot-genital syndrome ISO RGD:1346914 D RGD:7240710 20180130 OMIM 12320477 HOXA13 homeobox A13 gene DOID:0060739 hand-foot-genital syndrome ISO RGD:1346914 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hand-foot-genital syndrome PMID:10839976|PMID:12073020|PMID:12414828|PMID:1442892|PMID:17935235|PMID:25741868|PMID:2774004|PMID:5450271|PMID:8673126|PMID:9020844 12320477 HOXA13 homeobox A13 gene DOID:0111544 Guttmacher syndrome ISO RGD:1346914 D RGD:7240710 20180130 OMIM 12320477 HOXA13 homeobox A13 gene DOID:0111544 Guttmacher syndrome ISO RGD:1346914 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Guttmacher syndrome PMID:25741868|PMID:28492532 12320477 HOXA13 homeobox A13 gene DOID:10892 hypospadias ISO RGD:1562483 D RGD:9068941 20200609 RGD mRNA:decreased expression:male genital tubercle PMID:27079746|REF_RGD_ID:12743602 12320477 HOXA13 homeobox A13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12320477 HOXA13 homeobox A13 gene DOID:630 genetic disease ISO RGD:1346914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12320477 HOXA13 homeobox A13 gene DOID:684 hepatocellular carcinoma ISO RGD:1346914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12320477 HOXA13 homeobox A13 gene DOID:9001471 Anorectal Malformations ISO RGD:1562483 D RGD:9068941 20200609 RGD mRNA:decreased expression:hindgut PMID:17161201|REF_RGD_ID:1599527 12320477 HOXA13 homeobox A13 gene DOID:9001471 Anorectal Malformations ISO RGD:1562483 D RGD:9068941 20200609 RGD mRNA:decreased expression:rectum PMID:27079746|REF_RGD_ID:12743602 12320477 HOXA13 homeobox A13 gene DOID:9001611 Urogenital Abnormalities ISO RGD:1346914 D RGD:9068941 20200609 RGD hand-foot-genital syndrome, OMIM:140000 DNA,protein:point_mutation:CDS:Trp369Ter PMID:9020844|REF_RGD_ID:1599526 12320477 HOXA13 homeobox A13 gene DOID:9002739 Female Urogenital Diseases ISO RGD:1346914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 12320477 HOXA13 homeobox A13 gene DOID:9004795 Congenital Hand Deformities ISO RGD:1346914 D RGD:9068941 20200609 RGD hand-foot-genital syndrome, OMIM:140000 DNA,protein:point_mutation:CDS:Trp369Ter PMID:9020844|REF_RGD_ID:1599526 12320505 EGR4 early growth response 4 gene DOID:0050473 Alstrom syndrome ISO RGD:735817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 12320505 EGR4 early growth response 4 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:735817 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12320505 EGR4 early growth response 4 gene DOID:3525 middle cerebral artery infarction ISO RGD:2546 D RGD:9068941 20200609 RGD PMID:22645329|REF_RGD_ID:10395314 12320505 EGR4 early growth response 4 gene DOID:543 dystonia ISO RGD:735817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12320505 EGR4 early growth response 4 gene DOID:630 genetic disease ISO RGD:735817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320505 EGR4 early growth response 4 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:735817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12320511 ZBTB45 zinc finger and BTB domain containing 45 gene DOID:630 genetic disease ISO RGD:1322100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320533 RASGRP4 RAS guanyl releasing protein 4 gene DOID:630 genetic disease ISO RGD:733193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320559 DCAF15 DDB1 and CUL4 associated factor 15 gene DOID:630 genetic disease ISO RGD:2306328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320576 ADAM33 ADAM metallopeptidase domain 33 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1313212 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12320576 ADAM33 ADAM metallopeptidase domain 33 gene DOID:2841 asthma ISO RGD:1313212 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:19940503|REF_RGD_ID:4145359 12320576 ADAM33 ADAM metallopeptidase domain 33 gene DOID:2841 asthma ISO RGD:1313213 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19635592|REF_RGD_ID:4145360 12320576 ADAM33 ADAM metallopeptidase domain 33 gene DOID:2841 asthma disease_progression ISO RGD:1313212 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchus PMID:17339047|REF_RGD_ID:4145380 12320576 ADAM33 ADAM metallopeptidase domain 33 gene DOID:2841 asthma no_association ISO RGD:1313212 D RGD:9068941 20200609 RGD DNA:SNPs:introns,exon:7575G>A, 11188A>T, 12433T>C (human) PMID:16893396|REF_RGD_ID:4145382 12320576 ADAM33 ADAM metallopeptidase domain 33 gene DOID:2841 asthma susceptibility ISO RGD:1313212 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18778489|REF_RGD_ID:4145378 12320576 ADAM33 ADAM metallopeptidase domain 33 gene DOID:2841 asthma susceptibility ISO RGD:1313212 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M764T (human) PMID:17961406|REF_RGD_ID:4145379 12320576 ADAM33 ADAM metallopeptidase domain 33 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1313212 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:19284602|REF_RGD_ID:4145361 12320576 ADAM33 ADAM metallopeptidase domain 33 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:1313212 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:20156753|REF_RGD_ID:4145358 12320576 ADAM33 ADAM metallopeptidase domain 33 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1313212 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:20003279|REF_RGD_ID:4145357 12320576 ADAM33 ADAM metallopeptidase domain 33 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1313212 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12320576 ADAM33 ADAM metallopeptidase domain 33 gene DOID:4483 rhinitis susceptibility ISO RGD:1313212 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:15298558|PMID:18778489|REF_RGD_ID:4145378|REF_RGD_ID:4145383 12320576 ADAM33 ADAM metallopeptidase domain 33 gene DOID:630 genetic disease ISO RGD:1313212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320576 ADAM33 ADAM metallopeptidase domain 33 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1313212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17061022 12320576 ADAM33 ADAM metallopeptidase domain 33 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1313212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 12320576 ADAM33 ADAM metallopeptidase domain 33 gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:1313212 D RGD:9068941 20200609 RGD DNA:SNP: :rs2787094 c.2891G>C (human) PMID:19258923|REF_RGD_ID:4142862 12320576 ADAM33 ADAM metallopeptidase domain 33 gene DOID:9008939 Breast Neoplasms ISO RGD:1313212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30226539 12320637 LZTS3 leucine zipper tumor suppressor family member 3 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:737584 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12320637 LZTS3 leucine zipper tumor suppressor family member 3 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:737584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12320637 LZTS3 leucine zipper tumor suppressor family member 3 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:737584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 12320655 MFN1 mitofusin 1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:731663 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 12320655 MFN1 mitofusin 1 gene DOID:0111546 Currarino syndrome ISO RGD:731663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12320655 MFN1 mitofusin 1 gene DOID:10652 Alzheimer's disease ISO RGD:731663 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus (human) PMID:19605646|REF_RGD_ID:7800727 12320655 MFN1 mitofusin 1 gene DOID:11394 adult respiratory distress syndrome treatment ISO RGD:621460 D RGD:9068941 20200609 RGD PMID:27830717|REF_RGD_ID:12910765 12320655 MFN1 mitofusin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:731664 D RGD:9068941 20200609 RGD with Mfn2 knockout PMID:22052916|REF_RGD_ID:11251967 12320655 MFN1 mitofusin 1 gene DOID:13711 dental fluorosis ISO RGD:621460 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:frontal cortex (rat) PMID:23007560|REF_RGD_ID:12738230 12320655 MFN1 mitofusin 1 gene DOID:1596 depressive disorder treatment ISO RGD:731664 D RGD:9068941 20200609 RGD PMID:22244747|REF_RGD_ID:13204844 12320655 MFN1 mitofusin 1 gene DOID:1824 status epilepticus ISO RGD:621460 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus (rat) PMID:27045873|REF_RGD_ID:12436727 12320655 MFN1 mitofusin 1 gene DOID:3021 acute kidney failure ISO RGD:621460 D RGD:9068941 20200609 RGD protein:decreased expression:kidney (rat) PMID:26480480|REF_RGD_ID:12910862 12320655 MFN1 mitofusin 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731663 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:22975021 12320655 MFN1 mitofusin 1 gene DOID:4483 rhinitis ISO RGD:621460 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nasal cavity mucosa (rat) PMID:28146064|REF_RGD_ID:13204839 12320655 MFN1 mitofusin 1 gene DOID:630 genetic disease ISO RGD:731663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320655 MFN1 mitofusin 1 gene DOID:6364 migraine ISO RGD:621460 D RGD:9068941 20200609 RGD protein:decreased expression:trigeminal ganglion (rat) PMID:27984195|REF_RGD_ID:12910755 12320655 MFN1 mitofusin 1 gene DOID:6432 pulmonary hypertension ISO RGD:621460 D RGD:9068941 20200609 RGD protein:decreased expression:heart right ventricle (rat) PMID:27422986|REF_RGD_ID:12910832 12320655 MFN1 mitofusin 1 gene DOID:6457 Cowden syndrome ISO RGD:731663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden syndrome PMID:28492532 12320655 MFN1 mitofusin 1 gene DOID:784 chronic kidney disease treatment ISO RGD:621460 D RGD:9068941 20200609 RGD PMID:27801955|REF_RGD_ID:12738369 12320655 MFN1 mitofusin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:621460 D RGD:9068941 20200609 RGD protein:altered expression:spinal cord, mitochondrion (rat) PMID:26981103|REF_RGD_ID:12910837 12320655 MFN1 mitofusin 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:621460 D RGD:9068941 20200609 RGD PMID:26079325|REF_RGD_ID:12437066 12320655 MFN1 mitofusin 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:731664 D RGD:9068941 20200609 RGD PMID:28503736|REF_RGD_ID:12910714 12320655 MFN1 mitofusin 1 gene DOID:9004610 Acute Lung Injury ISO RGD:621460 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:lung (rat) PMID:25560372|REF_RGD_ID:12437080 12320655 MFN1 mitofusin 1 gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:621460 D RGD:9068941 20200609 RGD PMID:27491814|REF_RGD_ID:12910831 12320655 MFN1 mitofusin 1 gene DOID:9009105 HIV Encephalitis ISO RGD:731663 D RGD:9068941 20200609 RGD associated with HIV Infections;protein:increased expression:frontal cortex, membrane (human) PMID:26611103|REF_RGD_ID:12910851 12320655 MFN1 mitofusin 1 gene DOID:9009106 Acute Heart Injury ISO RGD:621460 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart (rat) PMID:25677476|REF_RGD_ID:12437078 12320708 NIM1K NIM1 serine/threonine protein kinase gene DOID:630 genetic disease ISO RGD:1604515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320743 TBRG1 transforming growth factor beta regulator 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1312969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12320743 TBRG1 transforming growth factor beta regulator 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1312969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12320743 TBRG1 transforming growth factor beta regulator 1 gene DOID:1059 intellectual disability ISO RGD:1312969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 12320743 TBRG1 transforming growth factor beta regulator 1 gene DOID:5419 schizophrenia ISO RGD:1312969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12320743 TBRG1 transforming growth factor beta regulator 1 gene DOID:630 genetic disease ISO RGD:1312969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320743 TBRG1 transforming growth factor beta regulator 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1312969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12320743 TBRG1 transforming growth factor beta regulator 1 gene DOID:9007661 Dwarfism ISO RGD:1312969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12320761 EPHX4 epoxide hydrolase 4 gene DOID:630 genetic disease ISO RGD:1318921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320772 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:735979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 12320772 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:0060041 autism spectrum disorder ISO RGD:735979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20479760 12320772 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12320772 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:735979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 12320772 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:0112022 non-syndromic X-linked intellectual disability 21 ISO RGD:735979 D RGD:7240710 20180130 OMIM 12320772 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:0112022 non-syndromic X-linked intellectual disability 21 ISO RGD:735979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 21 | ClinVar Annotator: match by term: Mental retardation, X-linked 21/34 PMID:10471494|PMID:16470793|PMID:18801879|PMID:19012350|PMID:21484992|PMID:25741868|PMID:28492532|PMID:8230164 12320772 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:1059 intellectual disability ISO RGD:735979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868 12320772 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:735979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 12320772 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:12849 autistic disorder ISO RGD:735979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12320772 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:1909 melanoma ISO RGD:735979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12320772 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:5419 schizophrenia ISO RGD:735979 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12320772 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:630 genetic disease ISO RGD:735979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12783849|PMID:25741868|PMID:28492532 12320772 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12320772 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:735979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18801879 12320772 IL1RAPL1 interleukin 1 receptor accessory protein like 1 gene DOID:9008582 Developmental Disease ISO RGD:735979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12320792 ARHGAP36 Rho GTPase activating protein 36 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12320792 ARHGAP36 Rho GTPase activating protein 36 gene DOID:12849 autistic disorder ISO RGD:1603262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12320792 ARHGAP36 Rho GTPase activating protein 36 gene DOID:630 genetic disease ISO RGD:1603262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320814 ADAM11 ADAM metallopeptidase domain 11 gene DOID:630 genetic disease ISO RGD:1316754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320854 NTAQ1 N-terminal glutamine amidase 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1602877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12320854 NTAQ1 N-terminal glutamine amidase 1 gene DOID:630 genetic disease ISO RGD:1602877 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320890 PDCL phosducin like gene DOID:630 genetic disease ISO RGD:735514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320902 DIP2C disco interacting protein 2 homolog C gene DOID:5409 lung small cell carcinoma ISO RGD:1346607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 12320902 DIP2C disco interacting protein 2 homolog C gene DOID:630 genetic disease ISO RGD:1346607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12320902 DIP2C disco interacting protein 2 homolog C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12320902 DIP2C disco interacting protein 2 homolog C gene DOID:9008086 Developmental Disabilities ISO RGD:1346607 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12320902 DIP2C disco interacting protein 2 homolog C gene DOID:9970 obesity ISO RGD:1346607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 12320945 S1PR5 sphingosine-1-phosphate receptor 5 gene DOID:0080600 COVID-19 ISO RGD:733271 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12320945 S1PR5 sphingosine-1-phosphate receptor 5 gene DOID:418 systemic scleroderma ISO RGD:733271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29033951 12320945 S1PR5 sphingosine-1-phosphate receptor 5 gene DOID:630 genetic disease ISO RGD:733271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320945 S1PR5 sphingosine-1-phosphate receptor 5 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22406263 12320954 LPCAT2 lysophosphatidylcholine acyltransferase 2 gene DOID:0080696 Winchester syndrome ISO RGD:1606279 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Winchester-Grossman syndrome 12320954 LPCAT2 lysophosphatidylcholine acyltransferase 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1606279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12320954 LPCAT2 lysophosphatidylcholine acyltransferase 2 gene DOID:630 genetic disease ISO RGD:1606279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320954 LPCAT2 lysophosphatidylcholine acyltransferase 2 gene DOID:9006569 Osteolysis Hereditary Multicentric ISO RGD:1606279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteolysis, hereditary multicentric 12320975 RDH13 retinol dehydrogenase 13 gene DOID:630 genetic disease ISO RGD:1312701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320975 RDH13 retinol dehydrogenase 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27865848 12320975 RDH13 retinol dehydrogenase 13 gene DOID:9005749 Necrosis ISO RGD:1312701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27865848 12320975 RDH13 retinol dehydrogenase 13 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1312701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27865848 12320987 MRPL53 mitochondrial ribosomal protein L53 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1315480 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12320987 MRPL53 mitochondrial ribosomal protein L53 gene DOID:543 dystonia ISO RGD:1315480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12320987 MRPL53 mitochondrial ribosomal protein L53 gene DOID:630 genetic disease ISO RGD:1315480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12320987 MRPL53 mitochondrial ribosomal protein L53 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1315480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12321006 NPFFR2 neuropeptide FF receptor 2 gene DOID:630 genetic disease ISO RGD:733261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321006 NPFFR2 neuropeptide FF receptor 2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:733261 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12321020 RCSD1 RCSD domain containing 1 gene DOID:0111942 immunodeficiency 25 ISO RGD:1603598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 12321020 RCSD1 RCSD domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1603598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12321020 RCSD1 RCSD domain containing 1 gene DOID:630 genetic disease ISO RGD:1603598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321020 RCSD1 RCSD domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12321020 RCSD1 RCSD domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12321035 NOP58 NOP58 ribonucleoprotein gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:733462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12321035 NOP58 NOP58 ribonucleoprotein gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:733462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12321035 NOP58 NOP58 ribonucleoprotein gene DOID:14557 primary pulmonary hypertension ISO RGD:733462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:16429395|PMID:16429403|PMID:27453251|PMID:28492532|PMID:29743074 12321035 NOP58 NOP58 ribonucleoprotein gene DOID:3910 lung adenocarcinoma ISO RGD:733462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12321035 NOP58 NOP58 ribonucleoprotein gene DOID:630 genetic disease ISO RGD:733462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321035 NOP58 NOP58 ribonucleoprotein gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:733462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12321035 NOP58 NOP58 ribonucleoprotein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12321035 NOP58 NOP58 ribonucleoprotein gene DOID:9006205 Animal Disease Models ISO RGD:733462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12321035 NOP58 NOP58 ribonucleoprotein gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:733462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12321035 NOP58 NOP58 ribonucleoprotein gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:733462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:23579436|PMID:26387786 12321104 CDK14 cyclin dependent kinase 14 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12321104 CDK14 cyclin dependent kinase 14 gene DOID:630 genetic disease ISO RGD:1313632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321104 CDK14 cyclin dependent kinase 14 gene DOID:684 hepatocellular carcinoma ISO RGD:1313632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22922871 12321161 LOC477072 serotransferrin gene DOID:0050425 restless legs syndrome ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16930377 12321161 LOC477072 serotransferrin gene DOID:0050425 restless legs syndrome ISO RGD:1342593 D RGD:9068941 20200609 RGD PMID:23369046|REF_RGD_ID:7244177 12321161 LOC477072 serotransferrin gene DOID:0050642 hypochromic microcytic anemia ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11110675 12321161 LOC477072 serotransferrin gene DOID:0050649 atransferrinemia ISO RGD:1342593 D RGD:7240710 20180130 OMIM 12321161 LOC477072 serotransferrin gene DOID:0050649 atransferrinemia ISO RGD:1342593 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Atransferrinemia | ClinVar Annotator: match by term: Familial hypotransferrinemia | ClinVar Annotator: match by term: Transferrin variant chi PMID:11110675|PMID:11703331|PMID:11920219|PMID:12111369|PMID:12752114|PMID:15060098|PMID:15466165|PMID:16398662|PMID:17768112|PMID:17809412|PMID:20029940|PMID:21665994|PMID:25741868|PMID:25773295|PMID:28492532|PMID:34828384|PMID:4625559|PMID:5711079|PMID:5927288|PMID:6585826|PMID:8317485|PMID:9272172 12321161 LOC477072 serotransferrin gene DOID:10283 prostate cancer ISO RGD:1342593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12321161 LOC477072 serotransferrin gene DOID:10652 Alzheimer's disease ISO RGD:1342593 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Transferrin variant c1/c2 PMID:15060098|PMID:20029940|PMID:25741868|PMID:28492532|PMID:9272172 12321161 LOC477072 serotransferrin gene DOID:10763 hypertension ISO RGD:1342593 D RGD:9068941 20200609 RGD protein:decreased expression PMID:14974364|REF_RGD_ID:1601524 12321161 LOC477072 serotransferrin gene DOID:10976 membranous glomerulonephritis ISO RGD:1342593 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic PMID:22328173|REF_RGD_ID:7244198 12321161 LOC477072 serotransferrin gene DOID:11758 iron deficiency anemia ISO RGD:1342593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Iron deficiency anemia PMID:11703331|PMID:12752114|PMID:16398662|PMID:28492532 12321161 LOC477072 serotransferrin gene DOID:11758 iron deficiency anemia susceptibility ISO RGD:1342593 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.G277S PMID:11703331|REF_RGD_ID:1601513 12321161 LOC477072 serotransferrin gene DOID:1184 nephrotic syndrome ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17178036 12321161 LOC477072 serotransferrin gene DOID:12849 autistic disorder ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15363659 12321161 LOC477072 serotransferrin gene DOID:1496 echinococcosis ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24270252 12321161 LOC477072 serotransferrin gene DOID:1574 alcohol use disorder ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11000917|PMID:21792595 12321161 LOC477072 serotransferrin gene DOID:1790 malignant mesothelioma ISO RGD:1342593 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26818092 12321161 LOC477072 serotransferrin gene DOID:2237 hepatitis ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21907177 12321161 LOC477072 serotransferrin gene DOID:2237 hepatitis ISO RGD:3845 D RGD:9068941 20200609 RGD protein:decreased modification:serum PMID:16480686|REF_RGD_ID:1601541 12321161 LOC477072 serotransferrin gene DOID:2355 anemia ISO RGD:3845 D RGD:9068941 20200609 RGD associated with Trypanosomiasis;protein:increased expression:serum PMID:23270806|REF_RGD_ID:7244377 12321161 LOC477072 serotransferrin gene DOID:2355 anemia treatment ISO RGD:1342593 D RGD:9068941 20200609 RGD associated with Heart Failure PMID:23680589|REF_RGD_ID:7244154 12321161 LOC477072 serotransferrin gene DOID:2921 glomerulonephritis severity ISO RGD:1342593 D RGD:9068941 20200609 RGD PMID:22607047|REF_RGD_ID:7244194 12321161 LOC477072 serotransferrin gene DOID:3021 acute kidney failure ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12321161 LOC477072 serotransferrin gene DOID:305 carcinoma ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:9879772 12321161 LOC477072 serotransferrin gene DOID:3910 lung adenocarcinoma ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 12321161 LOC477072 serotransferrin gene DOID:4195 hyperglycemia susceptibility ISO RGD:1342593 D RGD:9068941 20200609 RGD PMID:16936158|REF_RGD_ID:1601518 12321161 LOC477072 serotransferrin gene DOID:630 genetic disease ISO RGD:1342593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321161 LOC477072 serotransferrin gene DOID:77 gastrointestinal system disease ISO RGD:1342593 D RGD:9068941 20200609 RGD associated with Anemia and Renal Insufficiency, Chronic PMID:23055815|REF_RGD_ID:7244197 12321161 LOC477072 serotransferrin gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:9879772 12321161 LOC477072 serotransferrin gene DOID:9000998 Brain Injuries ISO RGD:3845 D RGD:9068941 20200609 RGD PMID:22538758|REF_RGD_ID:7244386 12321161 LOC477072 serotransferrin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:11406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15650968 12321161 LOC477072 serotransferrin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3845 D RGD:9068941 20200609 RGD PMID:22464783|REF_RGD_ID:7244387 12321161 LOC477072 serotransferrin gene DOID:9002165 Diabetic Nephropathies ISO RGD:3845 D RGD:9068941 20200609 RGD PMID:23468095|REF_RGD_ID:7244196 12321161 LOC477072 serotransferrin gene DOID:9002955 Nerve Degeneration resistance ISO RGD:3845 D RGD:9068941 20200609 RGD PMID:17010319|REF_RGD_ID:1601536 12321161 LOC477072 serotransferrin gene DOID:9003104 Intracranial Hemorrhages ISO RGD:3845 D RGD:9068941 20200609 RGD associated with Iron-Deficiency Anemia;protein:increased expression:basal ganglia PMID:16671451|REF_RGD_ID:1601537 12321161 LOC477072 serotransferrin gene DOID:9003565 Paratuberculosis ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22633222 12321161 LOC477072 serotransferrin gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:1342593 D RGD:9068941 20200609 RGD PMID:22736466|REF_RGD_ID:7244383 12321161 LOC477072 serotransferrin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20390345 12321161 LOC477072 serotransferrin gene DOID:9004713 Acute-Phase Reaction ISO RGD:3845 D RGD:9068941 20200609 RGD PMID:17417667|REF_RGD_ID:1601529 12321161 LOC477072 serotransferrin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:9879772 12321161 LOC477072 serotransferrin gene DOID:9005372 Inflammation ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008134 12321161 LOC477072 serotransferrin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3845 D RGD:9068941 20200609 RGD PMID:17081048|REF_RGD_ID:1601532 12321161 LOC477072 serotransferrin gene DOID:9005725 Iron Overload ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11110675 12321161 LOC477072 serotransferrin gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:1342593 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17416791|REF_RGD_ID:1601514 12321161 LOC477072 serotransferrin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12321161 LOC477072 serotransferrin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 12321161 LOC477072 serotransferrin gene DOID:9007692 Insulin Resistance ISO RGD:3845 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17350134|REF_RGD_ID:1601515 12321161 LOC477072 serotransferrin gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1342593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12321161 LOC477072 serotransferrin gene DOID:9270 alkaptonuria ISO RGD:1342593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12321161 LOC477072 serotransferrin gene DOID:9452 fatty liver disease ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008134|PMID:21907177 12321161 LOC477072 serotransferrin gene DOID:9744 type 1 diabetes mellitus ISO RGD:1342593 D RGD:9068941 20200609 RGD PMID:22861364|REF_RGD_ID:7244379 12321161 LOC477072 serotransferrin gene DOID:9970 obesity ISO RGD:1342593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12321161 LOC477072 serotransferrin gene DOID:9970 obesity ISO RGD:3845 D RGD:9068941 20200609 RGD PMID:16267817|REF_RGD_ID:1601520 12321182 TMEM230 transmembrane protein 230 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1316576 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12321182 TMEM230 transmembrane protein 230 gene DOID:10283 prostate cancer ISO RGD:1316576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12321182 TMEM230 transmembrane protein 230 gene DOID:14330 Parkinson's disease ISO RGD:1316576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27270108 12321182 TMEM230 transmembrane protein 230 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1316576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12321182 TMEM230 transmembrane protein 230 gene DOID:630 genetic disease ISO RGD:1316576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321204 SNAP23 synaptosome associated protein 23 gene DOID:2717 Bloom syndrome ISO RGD:1604652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12321204 SNAP23 synaptosome associated protein 23 gene DOID:630 genetic disease ISO RGD:1604652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321204 SNAP23 synaptosome associated protein 23 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12321204 SNAP23 synaptosome associated protein 23 gene DOID:9007102 Myocardial Ischemia ISO RGD:1604652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12321204 SNAP23 synaptosome associated protein 23 gene DOID:9256 colorectal cancer ISO RGD:1604652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12321219 RAB4A RAB4A, member RAS oncogene family gene DOID:1540 parathyroid carcinoma ISO RGD:1351964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12321219 RAB4A RAB4A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1351964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321219 RAB4A RAB4A, member RAS oncogene family gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12321242 MARCHF11 membrane associated ring-CH-type finger 11 gene DOID:630 genetic disease ISO RGD:1642105 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321242 MARCHF11 membrane associated ring-CH-type finger 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1642105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12321251 ZPR1 ZPR1 zinc finger gene DOID:1059 intellectual disability ISO RGD:1323503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12321251 ZPR1 ZPR1 zinc finger gene DOID:630 genetic disease ISO RGD:1323503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321251 ZPR1 ZPR1 zinc finger gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1323503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12321251 ZPR1 ZPR1 zinc finger gene DOID:9005701 GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES ISO RGD:1323503 D RGD:7240710 20210623 OMIM 12321251 ZPR1 ZPR1 zinc finger gene DOID:9005701 GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES ISO RGD:1323503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies PMID:29851065 12321251 ZPR1 ZPR1 zinc finger gene DOID:9007661 Dwarfism ISO RGD:1323503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12321274 COLEC11 collectin subfamily member 11 gene DOID:0060575 3MC syndrome 1 ISO RGD:1320152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 12321274 COLEC11 collectin subfamily member 11 gene DOID:0060576 3MC syndrome 2 ISO RGD:1320152 D RGD:7240710 20180130 OMIM 12321274 COLEC11 collectin subfamily member 11 gene DOID:0060576 3MC syndrome 2 ISO RGD:1320152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3MC syndrome 2 PMID:21258343|PMID:2569826|PMID:25741868|PMID:28301481|PMID:28492532|PMID:8933348 12321274 COLEC11 collectin subfamily member 11 gene DOID:0060577 3MC syndrome 3 ISO RGD:1320152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 12321274 COLEC11 collectin subfamily member 11 gene DOID:0111881 Diamond-Blackfan anemia 8 ISO RGD:1320152 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 PMID:28492532 12321274 COLEC11 collectin subfamily member 11 gene DOID:10123 pigmentation disease ISO RGD:1320152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 12321274 COLEC11 collectin subfamily member 11 gene DOID:630 genetic disease ISO RGD:1320152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12321274 COLEC11 collectin subfamily member 11 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 12321299 OR10H1 olfactory receptor family 10 subfamily H member 1 gene DOID:630 genetic disease ISO RGD:1348904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321302 LOC487977 cell surface glycoprotein CD200 receptor 1 gene DOID:630 genetic disease ISO RGD:1606724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321302 LOC487977 cell surface glycoprotein CD200 receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12321319 APOBR apolipoprotein B receptor gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1607021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 12321319 APOBR apolipoprotein B receptor gene DOID:5419 schizophrenia ISO RGD:1607021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12321319 APOBR apolipoprotein B receptor gene DOID:630 genetic disease ISO RGD:1607021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321327 TNRC6A trinucleotide repeat containing adaptor 6A gene DOID:0111696 familial adult myoclonic epilepsy 6 ISO RGD:1607049 D RGD:7240710 20190315 OMIM 12321327 TNRC6A trinucleotide repeat containing adaptor 6A gene DOID:0111696 familial adult myoclonic epilepsy 6 ISO RGD:1607049 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 6 PMID:25741868|PMID:28492532 12321327 TNRC6A trinucleotide repeat containing adaptor 6A gene DOID:630 genetic disease ISO RGD:1607049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321327 TNRC6A trinucleotide repeat containing adaptor 6A gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1607049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29507423 12321376 FIBCD1 fibrinogen C domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12321376 FIBCD1 fibrinogen C domain containing 1 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1319244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 12321376 FIBCD1 fibrinogen C domain containing 1 gene DOID:630 genetic disease ISO RGD:1319244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321387 CCDC32 coiled-coil domain containing 32 gene DOID:2717 Bloom syndrome ISO RGD:1605016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12321387 CCDC32 coiled-coil domain containing 32 gene DOID:9007327 Cardiofacioneurodevelopmental Syndrome ISO RGD:1605016 D RGD:7240710 20201230 OMIM 12321387 CCDC32 coiled-coil domain containing 32 gene DOID:9007327 Cardiofacioneurodevelopmental Syndrome ISO RGD:1605016 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiofacioneurodevelopmental syndrome PMID:25741868|PMID:32307552|PMID:35451546 12321387 CCDC32 coiled-coil domain containing 32 gene DOID:9256 colorectal cancer ISO RGD:1605016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12321405 HOXB2 homeobox B2 gene DOID:630 genetic disease ISO RGD:1320419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321415 NAE1 NEDD8 activating enzyme E1 subunit 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:733941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12321415 NAE1 NEDD8 activating enzyme E1 subunit 1 gene DOID:0110255 cataract 5 multiple types ISO RGD:733941 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 12321415 NAE1 NEDD8 activating enzyme E1 subunit 1 gene DOID:10652 Alzheimer's disease ISO RGD:733941 D RGD:9068941 20200609 RGD PMID:14557245|REF_RGD_ID:2302388 12321415 NAE1 NEDD8 activating enzyme E1 subunit 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:619945 D RGD:9068941 20200609 RGD PMID:21386696|REF_RGD_ID:13801046 12321415 NAE1 NEDD8 activating enzyme E1 subunit 1 gene DOID:630 genetic disease ISO RGD:733941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321415 NAE1 NEDD8 activating enzyme E1 subunit 1 gene DOID:9005238 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA ISO RGD:733941 D RGD:7240710 20230505 OMIM 12321415 NAE1 NEDD8 activating enzyme E1 subunit 1 gene DOID:9005238 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA ISO RGD:733941 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia PMID:36608681 12321439 ZSWIM5 zinc finger SWIM-type containing 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12321439 ZSWIM5 zinc finger SWIM-type containing 5 gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1321821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:28492532 12321439 ZSWIM5 zinc finger SWIM-type containing 5 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1321821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12321439 ZSWIM5 zinc finger SWIM-type containing 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12321439 ZSWIM5 zinc finger SWIM-type containing 5 gene DOID:630 genetic disease ISO RGD:1321821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321439 ZSWIM5 zinc finger SWIM-type containing 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1321821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12321458 MS4A5 membrane spanning 4-domains A5 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12321458 MS4A5 membrane spanning 4-domains A5 gene DOID:1059 intellectual disability ISO RGD:1350963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12321458 MS4A5 membrane spanning 4-domains A5 gene DOID:630 genetic disease ISO RGD:1350963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321475 CCDC136 coiled-coil domain containing 136 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12321475 CCDC136 coiled-coil domain containing 136 gene DOID:630 genetic disease ISO RGD:1604321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321513 SLFN12 schlafen family member 12 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:1605673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 12321513 SLFN12 schlafen family member 12 gene DOID:630 genetic disease ISO RGD:1605673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321520 C30H15orf39 chromosome 30 C15orf39 homolog gene DOID:2717 Bloom syndrome ISO RGD:1604333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12321520 C30H15orf39 chromosome 30 C15orf39 homolog gene DOID:5419 schizophrenia ISO RGD:1604333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12321520 C30H15orf39 chromosome 30 C15orf39 homolog gene DOID:630 genetic disease ISO RGD:1604333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321520 C30H15orf39 chromosome 30 C15orf39 homolog gene DOID:9256 colorectal cancer ISO RGD:1604333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12321590 FZD6 frizzled class receptor 6 gene DOID:0080079 nonsyndromic congenital nail disorder 1 ISO RGD:1343855 D RGD:7240710 20200408 OMIM 12321590 FZD6 frizzled class receptor 6 gene DOID:0080079 nonsyndromic congenital nail disorder 1 ISO RGD:1343855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 1 PMID:21665003|PMID:22211385|PMID:23374899|PMID:25741868|PMID:26036949 12321590 FZD6 frizzled class receptor 6 gene DOID:0111590 Cohen syndrome ISO RGD:1343855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12321590 FZD6 frizzled class receptor 6 gene DOID:13938 amenorrhea ISO RGD:1343855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12321590 FZD6 frizzled class receptor 6 gene DOID:2154 nephroblastoma ISO RGD:1343855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephroblastoma PMID:26822237 12321590 FZD6 frizzled class receptor 6 gene DOID:4123 nail disease ISO RGD:1343855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nail disease PMID:21665003|PMID:22211385 12321590 FZD6 frizzled class receptor 6 gene DOID:630 genetic disease ISO RGD:1343855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321590 FZD6 frizzled class receptor 6 gene DOID:9008386 Hydrops Fetalis ISO RGD:1343855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868|PMID:26036949 12321608 FCER1G Fc epsilon receptor Ig gene DOID:0060500 drug allergy ISO RGD:736226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18534082|PMID:18595682 12321608 FCER1G Fc epsilon receptor Ig gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:736226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12321608 FCER1G Fc epsilon receptor Ig gene DOID:1540 parathyroid carcinoma ISO RGD:736226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12321608 FCER1G Fc epsilon receptor Ig gene DOID:630 genetic disease ISO RGD:736226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321608 FCER1G Fc epsilon receptor Ig gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:736226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18595682 12321608 FCER1G Fc epsilon receptor Ig gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12321608 FCER1G Fc epsilon receptor Ig gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:0050579 glycogen storage disease XV ISO RGD:1354000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:0050830 peripheral artery disease ISO RGD:1354000 D RGD:9068941 20200609 RGD PMID:14662702|REF_RGD_ID:1580188 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:0060692 platelet-type bleeding disorder 8 IAGP D RGD:12801476 20230315 OMIA Bleeding disorder, P2RY12-related PMID:21554368|PMID:28800150|PMID:36815741 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:0060692 platelet-type bleeding disorder 8 ISO RGD:1354000 D RGD:7240710 20180130 OMIM 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:0060692 platelet-type bleeding disorder 8 ISO RGD:1354000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 8 PMID:11196645|PMID:12578987|PMID:20966167|PMID:25741868|PMID:28492532|PMID:29117459|PMID:31064749|PMID:32100410|PMID:7706468 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:0060903 thrombosis ISO RGD:1354000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17334511 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:0060903 thrombosis ISO RGD:621681 D RGD:9068941 20200609 RGD PMID:19692114|REF_RGD_ID:6480647 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:0060903 thrombosis ISO RGD:733568 D RGD:9068941 20200609 RGD PMID:12897207|REF_RGD_ID:1580187 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:1059 intellectual disability ISO RGD:1354000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31155615 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:1588 thrombocytopenia ISO RGD:733568 D RGD:9068941 20200609 RGD associated with Thrombosis PMID:21652673|REF_RGD_ID:6480523 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:2213 hemorrhagic disease ISO RGD:1354000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:2349 arteriosclerosis ISO RGD:733568 D RGD:9068941 20200609 RGD PMID:19295309|REF_RGD_ID:6480535 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:2841 asthma ISO RGD:1354000 D RGD:9068941 20200609 RGD PMID:22010907|REF_RGD_ID:6480532 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:2841 asthma ISO RGD:733568 D RGD:9068941 20200609 RGD PMID:19822647|REF_RGD_ID:6480533 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:5844 myocardial infarction ISO RGD:1354000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19334620 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:630 genetic disease ISO RGD:1354000 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:6713 cerebrovascular disease ISO RGD:1354000 D RGD:9068941 20200609 RGD associated with Peripheral Arterial Disease;DNA:polymorphism:exon:34C>T (human) PMID:15933261|REF_RGD_ID:1580189 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:7693 abdominal aortic aneurysm ISO RGD:621681 D RGD:9068941 20200609 RGD PMID:19028049|REF_RGD_ID:6480528 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:9000668 Nizon-Isidor Syndrome ISO RGD:1354000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nizon-Isidor syndrome PMID:25741868|PMID:31155615 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:9002211 Hyperalgesia ISO RGD:621681 D RGD:9068941 20200609 RGD PMID:20136836|REF_RGD_ID:6480526 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:9002211 Hyperalgesia ISO RGD:733568 D RGD:9068941 20200609 RGD PMID:20398327|REF_RGD_ID:6480525 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:9002457 Experimental Arthritis ISO RGD:621681 D RGD:9068941 20200609 RGD PMID:22028806|REF_RGD_ID:6480518 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:9004610 Acute Lung Injury ISO RGD:621681 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic PMID:21841533|REF_RGD_ID:6480522 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:9005968 Neuralgia ISO RGD:621681 D RGD:9068941 20200609 RGD PMID:20665560|REF_RGD_ID:6480524 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1354000 D RGD:9068941 20200609 RGD PMID:20431845|REF_RGD_ID:6480645 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:9008217 Hemorrhage ISO RGD:1354000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11196645 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:9008582 Developmental Disease ISO RGD:1354000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:9074 systemic lupus erythematosus ISO RGD:1354000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15304052 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:9074 systemic lupus erythematosus ISO RGD:1354000 D RGD:9068941 20200609 RGD PMID:15304052|REF_RGD_ID:6480537 12321621 P2RY12 purinergic receptor P2Y12 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1354000 D RGD:9068941 20200609 RGD PMID:15483100|REF_RGD_ID:6480536 12321639 TXNRD1 thioredoxin reductase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732119 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12321639 TXNRD1 thioredoxin reductase 1 gene DOID:1826 epilepsy ISO RGD:732119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19499324 12321639 TXNRD1 thioredoxin reductase 1 gene DOID:2773 contact dermatitis ISO RGD:732119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12321639 TXNRD1 thioredoxin reductase 1 gene DOID:332 amyotrophic lateral sclerosis susceptibility ISO RGD:732119 D RGD:9068941 20200609 RGD DNA:SNPs:intron:rs6539137, rs4630362 (human) PMID:18996185|REF_RGD_ID:5685032 12321639 TXNRD1 thioredoxin reductase 1 gene DOID:5844 myocardial infarction ISO RGD:61959 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle (rat) PMID:18515646|REF_RGD_ID:5134341 12321639 TXNRD1 thioredoxin reductase 1 gene DOID:6000 congestive heart failure ISO RGD:732119 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12321639 TXNRD1 thioredoxin reductase 1 gene DOID:630 genetic disease ISO RGD:732119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321639 TXNRD1 thioredoxin reductase 1 gene DOID:657 adenoma ISO RGD:732119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18483336 12321639 TXNRD1 thioredoxin reductase 1 gene DOID:8398 osteoarthritis ISO RGD:732119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12321639 TXNRD1 thioredoxin reductase 1 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:61959 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:neuron PMID:19833109|REF_RGD_ID:5133729 12321639 TXNRD1 thioredoxin reductase 1 gene DOID:9003566 Mesothelioma ISO RGD:732119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17316382 12321639 TXNRD1 thioredoxin reductase 1 gene DOID:9003690 Carcinoma, Lewis Lung ISO RGD:732119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16565519 12321639 TXNRD1 thioredoxin reductase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:61959 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex PMID:19128823|REF_RGD_ID:5685030 12321639 TXNRD1 thioredoxin reductase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:61959 D RGD:9068941 20200609 RGD mRNA:decreased expression:spinal cord PMID:19409971|REF_RGD_ID:5685028 12321639 TXNRD1 thioredoxin reductase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61959 D RGD:9068941 20200609 RGD mRNA:altered expression:myocardium (rat) PMID:20571744|REF_RGD_ID:5133714 12321639 TXNRD1 thioredoxin reductase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:732119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12321639 TXNRD1 thioredoxin reductase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18483336 12321659 MTIF2 mitochondrial translational initiation factor 2 gene DOID:630 genetic disease ISO RGD:1347555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321678 LRBA LPS responsive beige-like anchor protein gene DOID:0060019 coronin-1A deficiency ISO RGD:1322886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:16199547|PMID:25741868|PMID:26206937|PMID:26768763|PMID:28492532 12321678 LRBA LPS responsive beige-like anchor protein gene DOID:0081151 common variable immunodeficiency 8 ISO RGD:1322886 D RGD:7240710 20180130 OMIM 12321678 LRBA LPS responsive beige-like anchor protein gene DOID:0081151 common variable immunodeficiency 8 ISO RGD:1322886 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity PMID:16199547|PMID:17576681|PMID:22608502|PMID:22721650|PMID:24033266|PMID:25468195|PMID:25640679|PMID:25741868|PMID:25931386|PMID:26122175|PMID:26206937|PMID:26768763|PMID:27379089|PMID:28197149|PMID:28473463|PMID:28492532|PMID:28720148|PMID:28956255|PMID:29867916|PMID:30363934|PMID:31432443|PMID:31876783|PMID:31887391|PMID:32084423|PMID:32135276|PMID:32499645|PMID:32707200|PMID:33225392|PMID:33359885|PMID:33481921|PMID:33717114|PMID:34093558|PMID:34573280|PMID:9536098 12321678 LRBA LPS responsive beige-like anchor protein gene DOID:0111802 syndromic microphthalmia 14 ISO RGD:1322886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colobomatous microphthalmia-rhizomelic dysplasia syndrome PMID:24906020|PMID:25719200|PMID:25741868|PMID:32860008|PMID:34008892 12321678 LRBA LPS responsive beige-like anchor protein gene DOID:10487 Hirschsprung's disease ISO RGD:1322886 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:28492532 12321678 LRBA LPS responsive beige-like anchor protein gene DOID:2843 long QT syndrome ISO RGD:1322886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12321678 LRBA LPS responsive beige-like anchor protein gene DOID:5419 schizophrenia ISO RGD:1322886 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12321678 LRBA LPS responsive beige-like anchor protein gene DOID:612 primary immunodeficiency disease ISO RGD:1322886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868|PMID:26206937|PMID:26768763|PMID:28492532|PMID:32499645 12321678 LRBA LPS responsive beige-like anchor protein gene DOID:630 genetic disease ISO RGD:1322886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28473463|PMID:28492532|PMID:31432443|PMID:34093558 12321678 LRBA LPS responsive beige-like anchor protein gene DOID:9004286 Hirschsprung Disease 1 ISO RGD:1322886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung disease 1 PMID:25741868|PMID:28492532 12321759 RAB30 RAB30, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1319882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12321759 RAB30 RAB30, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1319882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321759 RAB30 RAB30, member RAS oncogene family gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12321774 MARF1 meiosis regulator and mRNA stability factor 1 gene DOID:12849 autistic disorder ISO RGD:1605711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12321774 MARF1 meiosis regulator and mRNA stability factor 1 gene DOID:1826 epilepsy ISO RGD:1605711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12321774 MARF1 meiosis regulator and mRNA stability factor 1 gene DOID:5419 schizophrenia ISO RGD:1605711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12321774 MARF1 meiosis regulator and mRNA stability factor 1 gene DOID:630 genetic disease ISO RGD:1605711 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321774 MARF1 meiosis regulator and mRNA stability factor 1 gene DOID:8445 intestinal volvulus ISO RGD:1605711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12321774 MARF1 meiosis regulator and mRNA stability factor 1 gene DOID:9000664 Familial Thoracic Aortic Aneurysm 4 ISO RGD:1605711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:22318994|PMID:27884122|PMID:28492532|PMID:29179725 12321774 MARF1 meiosis regulator and mRNA stability factor 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1605711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12321818 EIF5 eukaryotic translation initiation factor 5 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:736122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12321818 EIF5 eukaryotic translation initiation factor 5 gene DOID:5419 schizophrenia ISO RGD:736122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 12321818 EIF5 eukaryotic translation initiation factor 5 gene DOID:630 genetic disease ISO RGD:736122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321818 EIF5 eukaryotic translation initiation factor 5 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:736122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 12321839 OR2T8 olfactory receptor family 2 subfamily T member 8 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:155804190 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12321839 OR2T8 olfactory receptor family 2 subfamily T member 8 gene DOID:1540 parathyroid carcinoma ISO RGD:126734315 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12321839 OR2T8 olfactory receptor family 2 subfamily T member 8 gene DOID:630 genetic disease ISO RGD:156054651 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321839 OR2T8 olfactory receptor family 2 subfamily T member 8 gene DOID:630 genetic disease ISO RGD:156055231 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321839 OR2T8 olfactory receptor family 2 subfamily T member 8 gene DOID:630 genetic disease ISO RGD:156088307 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321839 OR2T8 olfactory receptor family 2 subfamily T member 8 gene DOID:630 genetic disease ISO RGD:156141738 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321839 OR2T8 olfactory receptor family 2 subfamily T member 8 gene DOID:630 genetic disease ISO RGD:156144584 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321839 OR2T8 olfactory receptor family 2 subfamily T member 8 gene DOID:630 genetic disease ISO RGD:156152763 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321839 OR2T8 olfactory receptor family 2 subfamily T member 8 gene DOID:630 genetic disease ISO RGD:156183811 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321839 OR2T8 olfactory receptor family 2 subfamily T member 8 gene DOID:630 genetic disease ISO RGD:156230221 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321839 OR2T8 olfactory receptor family 2 subfamily T member 8 gene DOID:630 genetic disease ISO RGD:156257335 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321839 OR2T8 olfactory receptor family 2 subfamily T member 8 gene DOID:630 genetic disease ISO RGD:156284043 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321839 OR2T8 olfactory receptor family 2 subfamily T member 8 gene DOID:630 genetic disease ISO RGD:329352192 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321839 OR2T8 olfactory receptor family 2 subfamily T member 8 gene DOID:630 genetic disease ISO RGD:329357081 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321839 OR2T8 olfactory receptor family 2 subfamily T member 8 gene DOID:630 genetic disease ISO RGD:329363905 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321839 OR2T8 olfactory receptor family 2 subfamily T member 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:14698793 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12321839 OR2T8 olfactory receptor family 2 subfamily T member 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:126734315 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12321843 PRSS37 serine protease 37 gene DOID:0080690 RASopathy ISO RGD:1604236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12321843 PRSS37 serine protease 37 gene DOID:630 genetic disease ISO RGD:1604236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12321843 PRSS37 serine protease 37 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1604236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 12321853 ALK ALK receptor tyrosine kinase gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16151469|PMID:19503098|PMID:21345110|PMID:22155737|PMID:22920921|PMID:22968692 12321853 ALK ALK receptor tyrosine kinase gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22474449 12321853 ALK ALK receptor tyrosine kinase gene DOID:1324 lung cancer ISO RGD:1353820 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:20979473|PMID:21575866|PMID:22277784|PMID:24327273|PMID:24670165|PMID:28492532 12321853 ALK ALK receptor tyrosine kinase gene DOID:2394 ovarian cancer ISO RGD:1353820 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:18923524|PMID:23104988|PMID:24728327|PMID:25741868|PMID:26580448|PMID:28492532 12321853 ALK ALK receptor tyrosine kinase gene DOID:2769 tic disorder ISO RGD:1353820 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Phonic tics PMID:32989326 12321853 ALK ALK receptor tyrosine kinase gene DOID:3247 rhabdomyosarcoma ISO RGD:1353820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:22184391 12321853 ALK ALK receptor tyrosine kinase gene DOID:3677 pulmonary plasma cell granuloma ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21430068 12321853 ALK ALK receptor tyrosine kinase gene DOID:3907 lung squamous cell carcinoma ISO RGD:1353820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532 12321853 ALK ALK receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1353820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:18923525|PMID:20979473|PMID:21030459|PMID:21575866|PMID:21791641|PMID:21838707|PMID:21948233|PMID:22072639|PMID:22235099|PMID:22277784|PMID:23344087|PMID:24327273|PMID:24670165 12321853 ALK ALK receptor tyrosine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:1353820 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:18923525|PMID:20979473|PMID:21030459|PMID:21575866|PMID:21791641|PMID:21838707|PMID:21948233|PMID:22072639|PMID:22235099|PMID:22277784|PMID:23344087|PMID:24327273|PMID:24670165|PMID:26619011|PMID:27993330 12321853 ALK ALK receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22743654 12321853 ALK ALK receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1353820 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12321853 ALK ALK receptor tyrosine kinase gene DOID:769 neuroblastoma ISO RGD:1353820 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma Susceptibility PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:18990089|PMID:21030459|PMID:21242967|PMID:2124297|PMID:21575866|PMID:21804922|PMID:21838707|PMID:21948233|PMID:21972109|PMID:22071890|PMID:22072639|PMID:22277784|PMID:22932897|PMID:23104988|PMID:23334666|PMID:24205241|PMID:24327273|PMID:24675991|PMID:25517749|PMID:25741868|PMID:26619011|PMID:26829053|PMID:27132509|PMID:28492532|PMID:28873162|PMID:29489754|PMID:30004444|PMID:30350464|PMID:30605844 12321853 ALK ALK receptor tyrosine kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22986231|PMID:22999080 12321853 ALK ALK receptor tyrosine kinase gene DOID:9004794 Granuloma, Plasma Cell ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20979472|PMID:21030459|PMID:22920921 12321853 ALK ALK receptor tyrosine kinase gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22277784 12321853 ALK ALK receptor tyrosine kinase gene DOID:9006684 Inflammatory Breast Neoplasms ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22215853 12321853 ALK ALK receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:16880530|PMID:17576681|PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:21242967|PMID:21637378|PMID:21804922|PMID:21838707|PMID:22071890|PMID:22072639|PMID:22086496|PMID:22184391|PMID:22932897|PMID:23104988|PMID:23334666|PMID:23555315|PMID:24033266|PMID:24129244|PMID:24326041|PMID:24675991|PMID:24728327|PMID:25054154|PMID:25517749|PMID:25589003|PMID:25741868|PMID:25801821|PMID:25874976|PMID:25979929|PMID:26002608|PMID:26503946|PMID:26554404|PMID:26580448|PMID:26619011|PMID:26696773|PMID:26829053|PMID:27132509|PMID:27153395|PMID:27179218|PMID:27930734|PMID:28185914|PMID:28492532|PMID:28756644|PMID:28873162|PMID:28975465|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29684080|PMID:30004444|PMID:30006516|PMID:30350464|PMID:30605844|PMID:30716324|PMID:30982079|PMID:30989433|PMID:32984025|PMID:33486679|PMID:33674381|PMID:33898318|PMID:9536098 12321853 ALK ALK receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353820 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:16880530|PMID:17576681|PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:21242967|PMID:21637378|PMID:21804922|PMID:21838707|PMID:22071890|PMID:22072639|PMID:22086496|PMID:22184391|PMID:22932897|PMID:23104988|PMID:23334666|PMID:23555315|PMID:24033266|PMID:24129244|PMID:24326041|PMID:24675991|PMID:24728327|PMID:25054154|PMID:25517749|PMID:25589003|PMID:25741868|PMID:25801821|PMID:25874976|PMID:25979929|PMID:26002608|PMID:26554404|PMID:26580448|PMID:26619011|PMID:26696773|PMID:26829053|PMID:27132509|PMID:27153395|PMID:27179218|PMID:27930734|PMID:28185914|PMID:28492532|PMID:28873162|PMID:28975465|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29684080|PMID:30004444|PMID:30006516|PMID:30350464|PMID:30605844|PMID:30716324|PMID:30982079|PMID:30989433|PMID:32984025|PMID:33486679|PMID:33674381|PMID:33898318|PMID:9536098 12321853 ALK ALK receptor tyrosine kinase gene DOID:9007502 Brain Neoplasms ISO RGD:1353820 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neoplasm of brain PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:21242967|PMID:21838707|PMID:22071890|PMID:22072639|PMID:22932897|PMID:23334666|PMID:24205241|PMID:25517749|PMID:25741868|PMID:26619011|PMID:26829053|PMID:28492532|PMID:28873162|PMID:29489754|PMID:30004444|PMID:30350464|PMID:30605844 12321853 ALK ALK receptor tyrosine kinase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22286764|PMID:23104988 12321853 ALK ALK receptor tyrosine kinase gene DOID:9007671 Familial Isolated Pituitary Adenoma ISO RGD:1353820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial isolated pituitary adenoma PMID:17576681|PMID:21838707|PMID:22072639|PMID:23104988|PMID:25741868|PMID:28492532|PMID:32984025|PMID:9536098 12321853 ALK ALK receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:1353820 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:21242967|PMID:21838707|PMID:22071890|PMID:22072639|PMID:22932897|PMID:23334666|PMID:25517749|PMID:25741868|PMID:26619011|PMID:26829053|PMID:28492532|PMID:28873162|PMID:29489754|PMID:30004444|PMID:30350464|PMID:30605844 12321853 ALK ALK receptor tyrosine kinase gene DOID:9009095 Neuroblastoma 3 ISO RGD:1353820 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 PMID:15517393|PMID:16199547|PMID:16880530|PMID:17576681|PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:18990089|PMID:21030459|PMID:21242967|PMID:2124297|PMID:21575866|PMID:21637378|PMID:21804922|PMID:21838707|PMID:21948233|PMID:21972109|PMID:22071890|PMID:22072639|PMID:22086496|PMID:22277784|PMID:22932897|PMID:23104988|PMID:23334666|PMID:23555315|PMID:24033266|PMID:24129244|PMID:24205241|PMID:24326041|PMID:24327273|PMID:24675991|PMID:24728327|PMID:25054154|PMID:25517749|PMID:25589003|PMID:25640679|PMID:25714698|PMID:25741868|PMID:25801821|PMID:25874976|PMID:25979929|PMID:26002608|PMID:26554404|PMID:26580448|PMID:26619011|PMID:26689913|PMID:26696773|PMID:26829053|PMID:27132509|PMID:27153395|PMID:27179218|PMID:27285993|PMID:27930734|PMID:28185914|PMID:28202063|PMID:28492532|PMID:28873162|PMID:28975465|PMID:29489754|PMID:29625052|PMID:29684080|PMID:30004444|PMID:30350464|PMID:30605844|PMID:30716324|PMID:30982079|PMID:30989433|PMID:32984025|PMID:33372952|PMID:33486679|PMID:33898318|PMID:9536098 12321853 ALK ALK receptor tyrosine kinase gene DOID:9009095 Neuroblastoma 3 susceptibility ISO RGD:1353820 D RGD:7240710 20190502 OMIM 12321886 TET3 tet methylcytosine dioxygenase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:2291813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25290267 12321886 TET3 tet methylcytosine dioxygenase 3 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:2291813 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12321886 TET3 tet methylcytosine dioxygenase 3 gene DOID:0080134 multiple mitochondrial dysfunctions syndrome 2 ISO RGD:2291813 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2 12321886 TET3 tet methylcytosine dioxygenase 3 gene DOID:1059 intellectual disability ISO RGD:2291813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849|PMID:31928709 12321886 TET3 tet methylcytosine dioxygenase 3 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:2291813 D RGD:9068941 20210917 RGD mRNA:decreased expression:esophagus squamous epithelium (human) PMID:27050164|REF_RGD_ID:150429668 12321886 TET3 tet methylcytosine dioxygenase 3 gene DOID:543 dystonia ISO RGD:2291813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12321886 TET3 tet methylcytosine dioxygenase 3 gene DOID:630 genetic disease ISO RGD:2291813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:31928709 12321886 TET3 tet methylcytosine dioxygenase 3 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:2291813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12321886 TET3 tet methylcytosine dioxygenase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2291813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12321886 TET3 tet methylcytosine dioxygenase 3 gene DOID:9006264 Beck-Fahrner Syndrome ISO RGD:2291813 D RGD:7240710 20200617 OMIM 12321886 TET3 tet methylcytosine dioxygenase 3 gene DOID:9006264 Beck-Fahrner Syndrome ISO RGD:2291813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Beck-Fahrner syndrome | ClinVar Annotator: match by term: TET3 deficiency PMID:25741868|PMID:28492532|PMID:30167849|PMID:31928709 12321886 TET3 tet methylcytosine dioxygenase 3 gene DOID:9008086 Developmental Disabilities ISO RGD:2291813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12321886 TET3 tet methylcytosine dioxygenase 3 gene DOID:9008255 Cognitive Impairment with or Without Cerebellar Ataxia ISO RGD:2291813 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia PMID:25741868 12321886 TET3 tet methylcytosine dioxygenase 3 gene DOID:9008582 Developmental Disease ISO RGD:2291813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12321886 TET3 tet methylcytosine dioxygenase 3 gene DOID:9538 multiple myeloma ISO RGD:2291813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12321907 NUMA1 nuclear mitotic apparatus protein 1 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1318746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 12321907 NUMA1 nuclear mitotic apparatus protein 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1318746 D RGD:7240710 20180130 OMIM 12321907 NUMA1 nuclear mitotic apparatus protein 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1318746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acute promyelocytic leukemia PMID:25741868|PMID:28492532 12321907 NUMA1 nuclear mitotic apparatus protein 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1318746 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12321907 NUMA1 nuclear mitotic apparatus protein 1 gene DOID:0110515 autosomal recessive nonsyndromic deafness 63 ISO RGD:1318746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 63 12321907 NUMA1 nuclear mitotic apparatus protein 1 gene DOID:1059 intellectual disability ISO RGD:1318746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12321907 NUMA1 nuclear mitotic apparatus protein 1 gene DOID:2661 myoepithelioma ISO RGD:1318746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12321907 NUMA1 nuclear mitotic apparatus protein 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1318746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 12321907 NUMA1 nuclear mitotic apparatus protein 1 gene DOID:630 genetic disease ISO RGD:1318746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321947 EAF1 ELL associated factor 1 gene DOID:0060417 3p deletion syndrome ISO RGD:1320738 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12321947 EAF1 ELL associated factor 1 gene DOID:630 genetic disease ISO RGD:1320738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321957 RAE1 ribonucleic acid export 1 gene DOID:630 genetic disease ISO RGD:1323051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321976 FAM124B family with sequence similarity 124 member B gene DOID:630 genetic disease ISO RGD:1602681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12321976 FAM124B family with sequence similarity 124 member B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:0050424 familial adenomatous polyposis ISO RGD:1348983 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:20951805|PMID:21157497|PMID:22980975|PMID:23636398|PMID:24033266|PMID:25079317|PMID:25224212|PMID:25529843|PMID:25559809|PMID:25642631|PMID:25741868|PMID:25860647|PMID:26467025|PMID:26822575|PMID:28427513|PMID:28492532|PMID:29120461|PMID:29987844|PMID:30194485 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:1348983 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 PMID:25741868|PMID:28492532 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:1348983 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 PMID:25741868|PMID:28492532 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1348983 D RGD:9068941 20220721 RGD DNA:SNP:CDS:rs4077170 (human) PMID:28218421|REF_RGD_ID:153297765 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:1324 lung cancer severity ISO RGD:1348983 D RGD:9068941 20220224 RGD DNA:missense mutation:CDS:p.A252V (human) PMID:17855454|REF_RGD_ID:11567235 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:1380 endometrial cancer ameliorates ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:missense mutations:CDS:p.P286R, p.V411L (human) PMID:29659608|REF_RGD_ID:151347857 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:1380 endometrial cancer ameliorates ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:missense mutations:multiple (human) PMID:29559562|REF_RGD_ID:151347650 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:1380 endometrial cancer disease_progression ISO RGD:1348983 D RGD:9068941 20220204 RGD protein:increased expression:endometrium (human) PMID:31866764|REF_RGD_ID:151347644 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:1380 endometrial cancer onset ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:polymorphisms:multiple (human) PMID:25224212|REF_RGD_ID:151347645 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:1520 colon carcinoma ISO RGD:1348983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:15766587|PMID:23263490|PMID:23447401|PMID:24033266|PMID:24480973|PMID:24525744|PMID:25111073|PMID:25224212|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27244218|PMID:28125075|PMID:28492532|PMID:28873162 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:1520 colon carcinoma ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:15766587|PMID:16199547|PMID:23230001|PMID:24033266|PMID:24480973|PMID:24525744|PMID:25637381|PMID:25741868|PMID:25948378|PMID:26467025|PMID:27244218|PMID:28125075|PMID:28492532|PMID:28873162|PMID:29987844|PMID:30503519|PMID:32792570|PMID:34347074 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:1612 breast cancer ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:21701589|PMID:23263490|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28492532|PMID:28873162|PMID:29458332|PMID:29641532|PMID:30267214|PMID:30503519|PMID:33558524 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:218 ascending colon cancer onset ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:mutations:multiple (human) PMID:28404093|REF_RGD_ID:151347649 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:218 ascending colon cancer susceptibility ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:missense mutation:CDS, exon 9:p.P286R (human) PMID:27612425|REF_RGD_ID:151347640 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:218 ascending colon cancer susceptibility ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:mutations:multiple (human, non-Asian) PMID:33125191|REF_RGD_ID:151347651 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:219 colon cancer ISO RGD:1348983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:25741868|PMID:28492532 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:2394 ovarian cancer ISO RGD:1348983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer PMID:26467025|PMID:28492532 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:2661 myoepithelioma ISO RGD:1348983 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:2871 endometrial carcinoma ISO RGD:1348983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25741868|PMID:26467025|PMID:27217144|PMID:28492532 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:3068 glioblastoma ISO RGD:1348983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:25228659|PMID:26619011|PMID:29352080 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:363 uterine cancer ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:23447401|PMID:24525744|PMID:24844595|PMID:25228659|PMID:26619011|PMID:28492532|PMID:29352080 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:3717 gastric adenocarcinoma ISO RGD:1348983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:25228659|PMID:26619011|PMID:29352080 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:3907 lung squamous cell carcinoma ameliorates ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:mutations:multiple (human) PMID:29650000|REF_RGD_ID:151347653 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:mutations:multiple (human) PMID:32433714|REF_RGD_ID:151347639 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:23447401|PMID:24525744|PMID:24844595|PMID:25228659|PMID:26619011|PMID:28492532 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348983 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 PMID:25741868|PMID:28492532 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:6171 uterine carcinosarcoma ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:23447401|PMID:24525744|PMID:24844595|PMID:25228659|PMID:26619011|PMID:28492532 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:630 genetic disease ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:29056344 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9000282 IMAGEI Syndrome ISO RGD:1348983 D RGD:7240710 20190315 OMIM 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9000282 IMAGEI Syndrome ISO RGD:1348983 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: IMAGEI SYNDROME | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency PMID:14760276|PMID:16835919|PMID:17576681|PMID:20091185|PMID:21129811|PMID:23230001|PMID:23263490|PMID:23447401|PMID:24033266|PMID:25741868|PMID:25948378|PMID:26467025|PMID:28492532|PMID:29056344|PMID:29754823|PMID:30503519|PMID:9536098 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Endometrioid adenocarcinoma PMID:23447401|PMID:24525744|PMID:24844595|PMID:25228659|PMID:26619011|PMID:28492532 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9004265 Endometrioid Carcinomas ameliorates ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:mutations:multiple (human) PMID:29505428|REF_RGD_ID:151347648 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15285897|PMID:15766587|PMID:16699561|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32992294|PMID:33001133|PMID:33193653|PMID:9536098 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15285897|PMID:15766587|PMID:16699561|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32992294|PMID:33001133|PMID:33193653|PMID:9536098 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:34347074|PMID:34549727|PMID:9536098 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:34347074|PMID:34549727|PMID:9536098 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9007936 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature ISO RGD:1348983 D RGD:7240710 20190315 OMIM 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9007936 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature ISO RGD:1348983 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Facial dysmorphism, immunodeficiency, livedo, and short stature PMID:16699561|PMID:17576681|PMID:20091185|PMID:21129811|PMID:23230001|PMID:23263490|PMID:24033266|PMID:24501277|PMID:25370038|PMID:25529843|PMID:25559809|PMID:25741868|PMID:25948378|PMID:26302956|PMID:26467025|PMID:27683556|PMID:28050010|PMID:28492532|PMID:29755653|PMID:29758562|PMID:30049826|PMID:30362666|PMID:30503519|PMID:30827058|PMID:32424176|PMID:32546565|PMID:9536098 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:23447401|PMID:24525744|PMID:24844595|PMID:25228659|PMID:26619011|PMID:28492532|PMID:29352080 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9008939 Breast Neoplasms ISO RGD:1348983 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:24844595|PMID:26619011|PMID:28492532 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9008939 Breast Neoplasms ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:23447401|PMID:24525744|PMID:24844595|PMID:25228659|PMID:26619011|PMID:28492532 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:7240710 20230505 OMIM 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29641532|PMID:29755653|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31285513|PMID:31308508|PMID:31769227|PMID:31829442|PMID:32424176|PMID:32792570|PMID:32885271|PMID:9536098 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31829442|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:9536098 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 3 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:9536098 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:9536098 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:9536098 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:9536098 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 3 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:9536098 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:9536098 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:9536098 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer disease_progression ISO RGD:1348983 D RGD:9068941 20220204 RGD protein:decreased expression:colorectum (human) PMID:32567205|REF_RGD_ID:151347643 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer exacerbates ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:mutations:multiple (human) PMID:25124163|REF_RGD_ID:151347642 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer onset ISO RGD:1348983 D RGD:9068941 20220224 RGD DNA:mutations:multiple (human) PMID:27244218|REF_RGD_ID:151356953 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer severity ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:missense mutation:CDS:multiple (human) PMID:32859741|REF_RGD_ID:151347638 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:missense mutation:CDS, exon 9:p.P286R (human) PMID:27612425|REF_RGD_ID:151347640 12321982 POLE DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:missense mutation:CDS:p.L424V (human) PMID:29120461|REF_RGD_ID:151347652 12322043 PNLIPRP2 pancreatic lipase related protein 2 gene DOID:630 genetic disease ISO RGD:733600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322059 WDR4 WD repeat domain 4 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1320425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12322059 WDR4 WD repeat domain 4 gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1320425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome PMID:25741868|PMID:30079490 12322059 WDR4 WD repeat domain 4 gene DOID:0081051 microcephaly, growth deficiency, seizures, and brain malformations ISO RGD:1320425 D RGD:7240710 20190315 OMIM 12322059 WDR4 WD repeat domain 4 gene DOID:0081051 microcephaly, growth deficiency, seizures, and brain malformations ISO RGD:1320425 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Microcephaly, growth deficiency, seizures, and brain malformations PMID:25741868|PMID:26416026|PMID:28492532 12322059 WDR4 WD repeat domain 4 gene DOID:0110266 cataract 9 multiple types ISO RGD:1320425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12322059 WDR4 WD repeat domain 4 gene DOID:630 genetic disease ISO RGD:1320425 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12322059 WDR4 WD repeat domain 4 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320425 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12322059 WDR4 WD repeat domain 4 gene DOID:9000383 Galloway-Mowat Syndrome 6 ISO RGD:1320425 D RGD:7240710 20190315 OMIM 12322059 WDR4 WD repeat domain 4 gene DOID:9000383 Galloway-Mowat Syndrome 6 ISO RGD:1320425 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 PMID:25741868|PMID:26416026|PMID:28492532|PMID:28617965|PMID:29597095|PMID:30079490 12322059 WDR4 WD repeat domain 4 gene DOID:9263 homocystinuria ISO RGD:1320425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12322059 WDR4 WD repeat domain 4 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12322077 ZG16B zymogen granule protein 16B gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12322077 ZG16B zymogen granule protein 16B gene DOID:1826 epilepsy ISO RGD:1605005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12322077 ZG16B zymogen granule protein 16B gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605005 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12322077 ZG16B zymogen granule protein 16B gene DOID:630 genetic disease ISO RGD:1605005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322085 CHMP6 charged multivesicular body protein 6 gene DOID:630 genetic disease ISO RGD:1606234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322097 LMX1A LIM homeobox transcription factor 1 alpha gene DOID:0110591 autosomal dominant nonsyndromic deafness 7 ISO RGD:1312426 D RGD:7240710 20200226 OMIM 12322097 LMX1A LIM homeobox transcription factor 1 alpha gene DOID:0110591 autosomal dominant nonsyndromic deafness 7 ISO RGD:1312426 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 7 PMID:25741868|PMID:29754270|PMID:32840933|PMID:35711095|PMID:36140227 12322097 LMX1A LIM homeobox transcription factor 1 alpha gene DOID:10003 sensorineural hearing loss ISO RGD:1312426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:29971487 12322097 LMX1A LIM homeobox transcription factor 1 alpha gene DOID:1540 parathyroid carcinoma ISO RGD:1312426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12322097 LMX1A LIM homeobox transcription factor 1 alpha gene DOID:5419 schizophrenia ISO RGD:1312426 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12322097 LMX1A LIM homeobox transcription factor 1 alpha gene DOID:630 genetic disease ISO RGD:1312426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322097 LMX1A LIM homeobox transcription factor 1 alpha gene DOID:9004538 Hearing Loss ISO RGD:1312426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29971487 12322097 LMX1A LIM homeobox transcription factor 1 alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12322109 EIF4E2 eukaryotic translation initiation factor 4E family member 2 gene DOID:0060476 Perlman syndrome ISO RGD:1348644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12322109 EIF4E2 eukaryotic translation initiation factor 4E family member 2 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1348644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12322109 EIF4E2 eukaryotic translation initiation factor 4E family member 2 gene DOID:630 genetic disease ISO RGD:1348644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322118 FAM222B family with sequence similarity 222 member B gene DOID:630 genetic disease ISO RGD:1603991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322141 CCDC59 coiled-coil domain containing 59 gene DOID:630 genetic disease ISO RGD:1606017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322152 SNX3 sorting nexin 3 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1345268 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 12322152 SNX3 sorting nexin 3 gene DOID:0080600 COVID-19 ISO RGD:1345268 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12322152 SNX3 sorting nexin 3 gene DOID:630 genetic disease ISO RGD:1345268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322162 OR8K5 olfactory receptor family 8 subfamily K member 5 gene DOID:1059 intellectual disability ISO RGD:1351237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12322162 OR8K5 olfactory receptor family 8 subfamily K member 5 gene DOID:630 genetic disease ISO RGD:1351237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322167 PTX3 pentraxin 3 gene DOID:0050073 invasive aspergillosis ISO RGD:1343528 D RGD:9068941 20200820 RGD protein:increased expression:bronchoalveolar lavage fluid (human) PMID:28487045|REF_RGD_ID:38508892 12322167 PTX3 pentraxin 3 gene DOID:0050073 invasive aspergillosis severity ISO RGD:1343528 D RGD:9068941 20200820 RGD DNA:SNPs, missense mutation:intron, cds:rs2305619, rs1840680, rs3816527 PMID:30275011|REF_RGD_ID:38501097 12322167 PTX3 pentraxin 3 gene DOID:0050153 pulmonary aspergilloma ISO RGD:1343528 D RGD:9068941 20200820 RGD protein:increased expression:bronchoalveolar lavage fluid, plasma (human) PMID:29964232|REF_RGD_ID:38508894 12322167 PTX3 pentraxin 3 gene DOID:1003 pelvic inflammatory disease ISO RGD:1343528 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:21679133|REF_RGD_ID:38508897 12322167 PTX3 pentraxin 3 gene DOID:14115 toxic shock syndrome ISO RGD:1343528 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:30687307|REF_RGD_ID:38508896 12322167 PTX3 pentraxin 3 gene DOID:1485 cystic fibrosis susceptibility ISO RGD:1343528 D RGD:9068941 20200716 RGD DNA:SNP:exon:rs35948036(human) PMID:20927127|REF_RGD_ID:35673347 12322167 PTX3 pentraxin 3 gene DOID:1883 hepatitis C severity ISO RGD:1343528 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:26400151|REF_RGD_ID:11554449 12322167 PTX3 pentraxin 3 gene DOID:37 skin disease ISO RGD:1343528 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12322167 PTX3 pentraxin 3 gene DOID:3770 pulmonary fibrosis ISO RGD:1343528 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22210019 12322167 PTX3 pentraxin 3 gene DOID:630 genetic disease ISO RGD:1343528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322167 PTX3 pentraxin 3 gene DOID:9000522 Invasive Candidiasis severity ISO RGD:1343528 D RGD:9068941 20200820 RGD associated with hematologic cancer;DNA:SNP:intron:rs1840680 PMID:30275011|REF_RGD_ID:38501097 12322167 PTX3 pentraxin 3 gene DOID:9000992 necrotizing soft tissue infection severity ISO RGD:1343528 D RGD:9068941 20200820 RGD protein:decreased expression:plasma (human) PMID:26880104|REF_RGD_ID:38508899 12322167 PTX3 pentraxin 3 gene DOID:9003219 Invasive Pulmonary Aspergillosis ISO RGD:1343528 D RGD:9068941 20200820 RGD protein:increased expression:bronchoalveolar lavage fluid, plasma (human) PMID:29964232|REF_RGD_ID:38508894 12322167 PTX3 pentraxin 3 gene DOID:9003219 Invasive Pulmonary Aspergillosis ISO RGD:1343528 D RGD:9068941 20200820 RGD protein:increased expression:plasma PMID:29020397|REF_RGD_ID:38501098 12322167 PTX3 pentraxin 3 gene DOID:9003219 Invasive Pulmonary Aspergillosis no_association ISO RGD:1343528 D RGD:9068941 20200820 RGD DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527 PMID:29020397|REF_RGD_ID:38501098 12322167 PTX3 pentraxin 3 gene DOID:9003219 Invasive Pulmonary Aspergillosis susceptibility ISO RGD:1343528 D RGD:9068941 20200820 RGD DNA:SNP:intron:rs1840680 (human) PMID:29020397|REF_RGD_ID:38501098 12322167 PTX3 pentraxin 3 gene DOID:9006058 Invasive Fungal Infections severity ISO RGD:1343528 D RGD:9068941 20200820 RGD DNA:SNPs:intron:rs2305619, rs1840680 (human) PMID:30275011|REF_RGD_ID:38501097 12322167 PTX3 pentraxin 3 gene DOID:9007417 Pseudomonas Infections susceptibility ISO RGD:1343528 D RGD:9068941 20200716 RGD associated with cystic fibrosis; DNA:SNPs, haplotypes:cds:rs35948036,rs2305619,rs1840680,rs3816527(human) PMID:20927127|REF_RGD_ID:35673347 12322167 PTX3 pentraxin 3 gene DOID:9007964 Arsenic Poisoning ISO RGD:1343528 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12322167 PTX3 pentraxin 3 gene DOID:9008212 Diabetic Foot ISO RGD:1343528 D RGD:9068941 20200820 RGD protein:decreased expression:plasma (human) PMID:30767386|REF_RGD_ID:38501100 12322174 OR8H4 olfactory receptor family 8 subfamily H member 4 gene DOID:1059 intellectual disability ISO RGD:1348854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12322174 OR8H4 olfactory receptor family 8 subfamily H member 4 gene DOID:630 genetic disease ISO RGD:1348854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322179 TSPAN19 tetraspanin 19 gene DOID:630 genetic disease ISO RGD:1606713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322214 LOC100855676 UDP-glucuronosyltransferase 3A1 gene DOID:630 genetic disease ISO RGD:1604978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322214 LOC100855676 UDP-glucuronosyltransferase 3A1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12322225 PRR22 proline rich 22 gene DOID:630 genetic disease ISO RGD:1602428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322235 MIR124-3 microRNA mir-124-3 gene DOID:10652 Alzheimer's disease ISO RGD:1607572 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28867212 12322235 MIR124-3 microRNA mir-124-3 gene DOID:8927 learning disability ISO RGD:1607572 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28867212 12322238 MIR302C microRNA mir-302c gene DOID:12271 aniridia ISO RGD:1344588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 12322238 MIR302C microRNA mir-302c gene DOID:5082 liver cirrhosis ISO RGD:1344588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12322241 MIR590 microRNA mir-590 gene DOID:0060041 autism spectrum disorder ISO RGD:1603085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12322241 MIR590 microRNA mir-590 gene DOID:10923 sickle cell anemia ISO RGD:1603085 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12322241 MIR590 microRNA mir-590 gene DOID:12849 autistic disorder ISO RGD:1603085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12322241 MIR590 microRNA mir-590 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1603085 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 12322241 MIR590 microRNA mir-590 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12322241 MIR590 microRNA mir-590 gene DOID:5419 schizophrenia ISO RGD:1603085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12322241 MIR590 microRNA mir-590 gene DOID:6000 congestive heart failure ISO RGD:1603085 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12322241 MIR590 microRNA mir-590 gene DOID:8445 intestinal volvulus ISO RGD:1603085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12322241 MIR590 microRNA mir-590 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12322241 MIR590 microRNA mir-590 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1603085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12322282 RNF212 ring finger protein 212 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1604957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 12322282 RNF212 ring finger protein 212 gene DOID:0112351 spermatogenic failure 62 ISO RGD:1604957 D RGD:7240710 20211222 OMIM 12322282 RNF212 ring finger protein 212 gene DOID:0112351 spermatogenic failure 62 ISO RGD:1604957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 62 PMID:31125047 12322282 RNF212 ring finger protein 212 gene DOID:14250 Down syndrome ISO RGD:1604957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complete trisomy 21 syndrome 12322282 RNF212 ring finger protein 212 gene DOID:1856 cherubism ISO RGD:1604957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12322282 RNF212 ring finger protein 212 gene DOID:3007 breast ductal carcinoma ISO RGD:1604957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12322282 RNF212 ring finger protein 212 gene DOID:630 genetic disease ISO RGD:1604957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322318 BCAP29 B cell receptor associated protein 29 gene DOID:13938 amenorrhea ISO RGD:1347055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12322318 BCAP29 B cell receptor associated protein 29 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12322318 BCAP29 B cell receptor associated protein 29 gene DOID:630 genetic disease ISO RGD:1347055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322336 POSTN periostin gene DOID:0060500 drug allergy ISO RGD:1313223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18391768 12322336 POSTN periostin gene DOID:0080010 bone structure disease ISO RGD:1313224 D RGD:9068941 20220825 MouseDO 12322336 POSTN periostin gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1313223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18391768 12322336 POSTN periostin gene DOID:10763 hypertension ISO RGD:1305285 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:left ventricle: PMID:21712488|REF_RGD_ID:10041050 12322336 POSTN periostin gene DOID:11650 bronchopulmonary dysplasia ISO RGD:1313223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363622 12322336 POSTN periostin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1313223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641384 12322336 POSTN periostin gene DOID:1474 aggressive periodontitis ISO RGD:1313224 D RGD:9068941 20220825 MouseDO OMIM:170650 | OMIM:608526 12322336 POSTN periostin gene DOID:5082 liver cirrhosis ISO RGD:1313223 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism PMID:32344006 12322336 POSTN periostin gene DOID:5199 ureteral obstruction ISO RGD:1313224 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:22167593|REF_RGD_ID:10040972 12322336 POSTN periostin gene DOID:5844 myocardial infarction ISO RGD:1305285 D RGD:9068941 20200609 RGD protein:increased expression:heart: PMID:24212842|REF_RGD_ID:10041024 12322336 POSTN periostin gene DOID:6000 congestive heart failure treatment ISO RGD:1305285 D RGD:9068941 20200609 RGD PMID:15381649|REF_RGD_ID:10040999 12322336 POSTN periostin gene DOID:6000 congestive heart failure treatment ISO RGD:1313223 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:16414453|REF_RGD_ID:10040951 12322336 POSTN periostin gene DOID:630 genetic disease ISO RGD:1313223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322336 POSTN periostin gene DOID:7693 abdominal aortic aneurysm ISO RGD:1313223 D RGD:9068941 20200609 RGD protein:increased expression:aorta: PMID:24260297|REF_RGD_ID:10041046 12322336 POSTN periostin gene DOID:7693 abdominal aortic aneurysm ISO RGD:1313224 D RGD:9068941 20200609 RGD protein:increased expression:aorta: PMID:24260297|REF_RGD_ID:10041046 12322336 POSTN periostin gene DOID:783 end stage renal disease ISO RGD:1305285 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased secretion:kidney,urine: PMID:22167593|REF_RGD_ID:10040972 12322336 POSTN periostin gene DOID:784 chronic kidney disease ISO RGD:1313223 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:22403621|REF_RGD_ID:10041032 12322336 POSTN periostin gene DOID:784 chronic kidney disease ISO RGD:1313223 D RGD:9068941 20200609 RGD protein:increased secretion:urine: PMID:22167593|REF_RGD_ID:10040972 12322336 POSTN periostin gene DOID:824 periodontitis ISO RGD:1305285 D RGD:9068941 20200609 RGD protein:decreased expression:mandible: PMID:24212842|REF_RGD_ID:10041024 12322336 POSTN periostin gene DOID:90 degenerative disc disease ISO RGD:1305285 D RGD:9068941 20200609 RGD protein:increased expression:tail intervertebral disc: PMID:23453657|REF_RGD_ID:10040995 12322336 POSTN periostin gene DOID:90 degenerative disc disease ISO RGD:1313223 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:nucleus pulposus: PMID:23453657|REF_RGD_ID:10040995 12322336 POSTN periostin gene DOID:9001600 Wounds and Injuries ISO RGD:1305285 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:22681660|REF_RGD_ID:10040991 12322336 POSTN periostin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1313224 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:22167593|REF_RGD_ID:10040972 12322336 POSTN periostin gene DOID:9003234 Hypertensive Nephropathy disease_progression ISO RGD:1305285 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:22403621|REF_RGD_ID:10041032 12322336 POSTN periostin gene DOID:9003936 Cardiomegaly severity ISO RGD:1305285 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:left ventricle: PMID:16414453|REF_RGD_ID:10040951 12322336 POSTN periostin gene DOID:9004498 Cumulative Trauma Disorders ISO RGD:1305285 D RGD:9068941 20200609 RGD protein:increased expression:tendon,muscle,nerve: PMID:19620321|REF_RGD_ID:10040958 12322336 POSTN periostin gene DOID:9006182 Carotid Artery Injuries ISO RGD:1305285 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:artery: PMID:15514205|REF_RGD_ID:10040973 12322336 POSTN periostin gene DOID:9006928 Viral Bronchiolitis ISO RGD:1313223 D RGD:9068941 20201023 RGD mRNA,protein:increased expression:nasal mucus PMID:28471975|REF_RGD_ID:38596342 12322336 POSTN periostin gene DOID:9007039 Ventricular Dysfunction ISO RGD:1305285 D RGD:9068941 20200609 RGD PMID:15381649|REF_RGD_ID:10040999 12322336 POSTN periostin gene DOID:9007621 Craniocerebral Trauma ISO RGD:1305285 D RGD:9068941 20200609 RGD PMID:17878602|REF_RGD_ID:10041014 12322336 POSTN periostin gene DOID:9008331 Tendon Injuries ISO RGD:1305285 D RGD:9068941 20200609 RGD protein:increased expression:achilles tendon: PMID:23149902|REF_RGD_ID:10041033 12322336 POSTN periostin gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15731169 12322336 POSTN periostin gene DOID:9008763 Femoral Fractures ISO RGD:1305285 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:bone: PMID:19006175|REF_RGD_ID:10040956 12322336 POSTN periostin gene DOID:971 tendinitis ISO RGD:1305285 D RGD:9068941 20200609 RGD protein:increased expression:peritendon: PMID:19743505|REF_RGD_ID:2314473 12322366 MEF2A myocyte enhancer factor 2A gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1322126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 12322366 MEF2A myocyte enhancer factor 2A gene DOID:12930 dilated cardiomyopathy ISO RGD:1322126 D RGD:9068941 20200609 RGD PMID:16469744|REF_RGD_ID:1580546 12322366 MEF2A myocyte enhancer factor 2A gene DOID:630 genetic disease ISO RGD:1322126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322366 MEF2A myocyte enhancer factor 2A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1359360 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:18413674|REF_RGD_ID:2312263 12322366 MEF2A myocyte enhancer factor 2A gene DOID:9007440 Coronary Artery Disease, Autosomal Dominant 1 ISO RGD:1322126 D RGD:7240710 20180130 OMIM 12322366 MEF2A myocyte enhancer factor 2A gene DOID:9007440 Coronary Artery Disease, Autosomal Dominant 1 ISO RGD:1322126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease, autosomal dominant, 1 | ClinVar Annotator: match by term: Coronary artery disease/myocardial infarction PMID:14645853|PMID:15496429|PMID:15841183 12322400 DLX6 distal-less homeobox 6 gene DOID:0090021 split hand-foot malformation 1 ISO RGD:1557991 D RGD:9068941 20220825 MouseDO OMIM:183600 12322400 DLX6 distal-less homeobox 6 gene DOID:4258 Weissenbacher-Zweymuller syndrome IAGP D RGD:12801476 20230510 OMIA Cleft palate 1, DLX6-related PMID:24699068|PMID:28738009|PMID:34838248|PMID:28887848 12322400 DLX6 distal-less homeobox 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12322400 DLX6 distal-less homeobox 6 gene DOID:630 genetic disease ISO RGD:1347834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322400 DLX6 distal-less homeobox 6 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1347834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14666512 12322408 SFRP1 secreted frizzled related protein 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:735754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18716850 12322408 SFRP1 secreted frizzled related protein 1 gene DOID:114 heart disease ISO RGD:735754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30377735 12322408 SFRP1 secreted frizzled related protein 1 gene DOID:127 leiomyoma ISO RGD:735754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15972578 12322408 SFRP1 secreted frizzled related protein 1 gene DOID:127 leiomyoma ISO RGD:735754 D RGD:9068941 20200609 RGD Uterine leiomyoma; mRNA:increased expression:leiomyoma smooth muscle cells (SMCs):vs matched myometrial SMCs PMID:15972578|REF_RGD_ID:2298808 12322408 SFRP1 secreted frizzled related protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:735754 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:20420713|REF_RGD_ID:4107084 12322408 SFRP1 secreted frizzled related protein 1 gene DOID:630 genetic disease ISO RGD:735754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322408 SFRP1 secreted frizzled related protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12322408 SFRP1 secreted frizzled related protein 1 gene DOID:8719 in situ carcinoma ISO RGD:735754 D RGD:9068941 20200609 RGD testicular CIS; mRNA:increased expression:tumor PMID:15123780|REF_RGD_ID:2301712 12322408 SFRP1 secreted frizzled related protein 1 gene DOID:9000784 Fibrosis ISO RGD:735754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30377735 12322408 SFRP1 secreted frizzled related protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:735754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923031|PMID:18716850 12322408 SFRP1 secreted frizzled related protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18283316 12322408 SFRP1 secreted frizzled related protein 1 gene DOID:9775 diastolic heart failure ISO RGD:735754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12322414 TSKU tsukushi, small leucine rich proteoglycan gene DOID:1059 intellectual disability ISO RGD:1601763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12322414 TSKU tsukushi, small leucine rich proteoglycan gene DOID:630 genetic disease ISO RGD:1601763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322434 DDIT4L DNA damage inducible transcript 4 like gene DOID:1909 melanoma ISO RGD:1342784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 12322434 DDIT4L DNA damage inducible transcript 4 like gene DOID:630 genetic disease ISO RGD:1342784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322441 SENP5 SUMO specific peptidase 5 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1312139 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 12322441 SENP5 SUMO specific peptidase 5 gene DOID:12849 autistic disorder ISO RGD:1312139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12322441 SENP5 SUMO specific peptidase 5 gene DOID:5419 schizophrenia ISO RGD:1312139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12322441 SENP5 SUMO specific peptidase 5 gene DOID:630 genetic disease ISO RGD:1312139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322466 MMRN2 multimerin 2 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1322933 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:11536076|PMID:12417513|PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 12322466 MMRN2 multimerin 2 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1322933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 12322466 MMRN2 multimerin 2 gene DOID:630 genetic disease ISO RGD:1322933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322482 ARSL arylsulfatase L gene DOID:0060041 autism spectrum disorder ISO RGD:14265589 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12322482 ARSL arylsulfatase L gene DOID:0060292 X-linked chondrodysplasia punctata 1 ISO RGD:1312633 D RGD:7240710 20181017 OMIM 12322482 ARSL arylsulfatase L gene DOID:0060292 X-linked chondrodysplasia punctata 1 ISO RGD:1312633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chondrodysplasia punctata, brachytelephalangic, autosomal | ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1 PMID:12567415|PMID:1557308|PMID:16199547|PMID:16937129|PMID:17576681|PMID:18348268|PMID:18414213|PMID:20301713|PMID:20523025|PMID:20598055|PMID:23462608|PMID:23470839|PMID:24033266|PMID:25741868|PMID:2722194|PMID:28257906|PMID:28492532|PMID:29565423|PMID:32860008|PMID:7720070|PMID:9409863|PMID:9497243|PMID:9536098|PMID:9863597 12322482 ARSL arylsulfatase L gene DOID:12849 autistic disorder ISO RGD:1312633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12322482 ARSL arylsulfatase L gene DOID:2581 chondrodysplasia punctata susceptibility ISO RGD:1312633 D RGD:9068941 20200609 RGD PMID:9409863|REF_RGD_ID:1599238 12322482 ARSL arylsulfatase L gene DOID:630 genetic disease ISO RGD:1312633 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12322482 ARSL arylsulfatase L gene DOID:65 connective tissue disease ISO RGD:1312633 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:18414213|PMID:25741868|PMID:28492532 12322482 ARSL arylsulfatase L gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12322513 PHF11 PHD finger protein 11 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1321995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12322513 PHF11 PHD finger protein 11 gene DOID:1059 intellectual disability ISO RGD:1321995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12322513 PHF11 PHD finger protein 11 gene DOID:630 genetic disease ISO RGD:1321995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322535 MYO1G myosin IG gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12322535 MYO1G myosin IG gene DOID:630 genetic disease ISO RGD:1314390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322536 CYTL1 cytokine like 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1351161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12322536 CYTL1 cytokine like 1 gene DOID:630 genetic disease ISO RGD:1351161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322536 CYTL1 cytokine like 1 gene DOID:6678 tooth and nail syndrome ISO RGD:1351161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 12322544 UBL5 ubiquitin like 5 gene DOID:12849 autistic disorder ISO RGD:1351956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12322553 H3C12 H3 clustered histone 12 gene DOID:630 genetic disease ISO RGD:1346430 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322561 PGBD5 piggyBac transposable element derived 5 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1321950 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 12322561 PGBD5 piggyBac transposable element derived 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1321950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12322561 PGBD5 piggyBac transposable element derived 5 gene DOID:3672 rhabdoid cancer ISO RGD:1321950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28504702 12322561 PGBD5 piggyBac transposable element derived 5 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1321950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 12322561 PGBD5 piggyBac transposable element derived 5 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1321950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28504702 12322561 PGBD5 piggyBac transposable element derived 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12322578 F2 coagulation factor II, thrombin gene DOID:0060903 thrombosis ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10064001|PMID:11132655|PMID:1279834|PMID:17245631 12322578 F2 coagulation factor II, thrombin gene DOID:0060903 thrombosis ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:mutation: :20210G>A (human) PMID:21070754|REF_RGD_ID:6893603 12322578 F2 coagulation factor II, thrombin gene DOID:0060903 thrombosis ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:22402172|REF_RGD_ID:7387314 12322578 F2 coagulation factor II, thrombin gene DOID:0060903 thrombosis ISO RGD:62288 D RGD:9068941 20200609 RGD PMID:21605330|REF_RGD_ID:7387259 12322578 F2 coagulation factor II, thrombin gene DOID:0060903 thrombosis no_association ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:mutation: :20210G>A (human) PMID:12632020|REF_RGD_ID:7394765 12322578 F2 coagulation factor II, thrombin gene DOID:0060903 thrombosis treatment ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:17293494|REF_RGD_ID:11035267 12322578 F2 coagulation factor II, thrombin gene DOID:0060903 thrombosis treatment ISO RGD:62288 D RGD:9068941 20200609 RGD associated with Carotid Artery Injuries PMID:15039280|REF_RGD_ID:10449423 12322578 F2 coagulation factor II, thrombin gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1353256 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12322578 F2 coagulation factor II, thrombin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22841818 12322578 F2 coagulation factor II, thrombin gene DOID:0080600 COVID-19 disease_progression ISO RGD:1353256 D RGD:9068941 20200618 RGD associated with diabetes mellitus PMID:32345579|REF_RGD_ID:30296681 12322578 F2 coagulation factor II, thrombin gene DOID:0080600 COVID-19 severity ISO RGD:1353256 D RGD:9068941 20200625 RGD PMID:32198776|PMID:32302954|PMID:32350161|REF_RGD_ID:30296673|REF_RGD_ID:30296679|REF_RGD_ID:30309962 12322578 F2 coagulation factor II, thrombin gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:61996 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:16981243|REF_RGD_ID:6893592 12322578 F2 coagulation factor II, thrombin gene DOID:0080941 acquired angioedema disease_progression ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:9129025|REF_RGD_ID:11565081 12322578 F2 coagulation factor II, thrombin gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:1353256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Thrombophilia due to thrombin defect PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:15059842|PMID:15534175|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:22716977|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:31582550|PMID:32194638|PMID:34110897|PMID:34355501|PMID:6305407|PMID:6405779|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 12322578 F2 coagulation factor II, thrombin gene DOID:0111907 thrombophilia due to thrombin defect susceptibility ISO RGD:1353256 D RGD:7240710 20230517 OMIM 12322578 F2 coagulation factor II, thrombin gene DOID:10003 sensorineural hearing loss ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:transition: :20210G>A (human) PMID:17334320|REF_RGD_ID:7387261 12322578 F2 coagulation factor II, thrombin gene DOID:10003 sensorineural hearing loss ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Stroke PMID:18636032|REF_RGD_ID:7387268 12322578 F2 coagulation factor II, thrombin gene DOID:10003 sensorineural hearing loss no_association ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:transition: :20210G>A(human) PMID:16572609|REF_RGD_ID:7387240 12322578 F2 coagulation factor II, thrombin gene DOID:10283 prostate cancer ISO RGD:1353256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12322578 F2 coagulation factor II, thrombin gene DOID:1059 intellectual disability ISO RGD:1353256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12322578 F2 coagulation factor II, thrombin gene DOID:10591 pre-eclampsia severity ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:polymorphism: :20210G>A(human) PMID:16246971|REF_RGD_ID:6893628 12322578 F2 coagulation factor II, thrombin gene DOID:10608 celiac disease ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:23556408|REF_RGD_ID:7387257 12322578 F2 coagulation factor II, thrombin gene DOID:10652 Alzheimer's disease ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8333868 12322578 F2 coagulation factor II, thrombin gene DOID:10923 sickle cell anemia ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:8191393|REF_RGD_ID:11565080 12322578 F2 coagulation factor II, thrombin gene DOID:10923 sickle cell anemia disease_progression ISO RGD:62288 D RGD:9068941 20200609 RGD PMID:26286849|REF_RGD_ID:11565074 12322578 F2 coagulation factor II, thrombin gene DOID:11054 urinary bladder cancer severity ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:22236518|REF_RGD_ID:6893573 12322578 F2 coagulation factor II, thrombin gene DOID:11247 disseminated intravascular coagulation ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1894189 12322578 F2 coagulation factor II, thrombin gene DOID:11247 disseminated intravascular coagulation ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:1336986|REF_RGD_ID:10449429 12322578 F2 coagulation factor II, thrombin gene DOID:11247 disseminated intravascular coagulation ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Wounds and Injuries PMID:19682336|REF_RGD_ID:10449422 12322578 F2 coagulation factor II, thrombin gene DOID:11247 disseminated intravascular coagulation ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:22229668|PMID:23737601|REF_RGD_ID:10449432|REF_RGD_ID:6893489 12322578 F2 coagulation factor II, thrombin gene DOID:11695 portal vein thrombosis severity ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with liver cirrhosis;protein:increased expression:plasma (human) PMID:28465646|REF_RGD_ID:14985237 12322578 F2 coagulation factor II, thrombin gene DOID:12134 factor VIII deficiency treatment ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:26635073|REF_RGD_ID:11565076 12322578 F2 coagulation factor II, thrombin gene DOID:12140 Chagas disease ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:20699256|REF_RGD_ID:5147778 12322578 F2 coagulation factor II, thrombin gene DOID:12140 Chagas disease ISO RGD:1353256 D RGD:9068941 20201127 RGD protein:increased expression:blood plasma (human) PMID:21866301|REF_RGD_ID:40818435 12322578 F2 coagulation factor II, thrombin gene DOID:12205 dengue disease ISO RGD:1353256 D RGD:9068941 20201203 RGD PMID:22138554|REF_RGD_ID:40818430 12322578 F2 coagulation factor II, thrombin gene DOID:12259 hemophilia B treatment ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:26635073|REF_RGD_ID:11565076 12322578 F2 coagulation factor II, thrombin gene DOID:1247 blood coagulation disease ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17721328 12322578 F2 coagulation factor II, thrombin gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1353256 D RGD:9068941 20201203 RGD associated with diarrhea;protein:increased expression:plasma (human) PMID:9423793|REF_RGD_ID:40818428 12322578 F2 coagulation factor II, thrombin gene DOID:12858 Huntington's disease ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:21297956|REF_RGD_ID:5147768 12322578 F2 coagulation factor II, thrombin gene DOID:13001 carotid stenosis ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:SNP:3'-UTR:in men only PMID:15748240|REF_RGD_ID:5509914 12322578 F2 coagulation factor II, thrombin gene DOID:14115 toxic shock syndrome severity ISO RGD:1353256 D RGD:9068941 20201203 RGD protein:decreased expression:blood plasma (human) PMID:2788582|REF_RGD_ID:40822807 12322578 F2 coagulation factor II, thrombin gene DOID:14735 hereditary angioedema disease_progression ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:9129025|REF_RGD_ID:11565081 12322578 F2 coagulation factor II, thrombin gene DOID:1555 urticaria ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21488867|REF_RGD_ID:5147756 12322578 F2 coagulation factor II, thrombin gene DOID:1727 retinal vein occlusion ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:22800650|REF_RGD_ID:7387258 12322578 F2 coagulation factor II, thrombin gene DOID:1727 retinal vein occlusion no_association ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:SNP: :20210G>A (human) PMID:14994919|REF_RGD_ID:7394774 12322578 F2 coagulation factor II, thrombin gene DOID:1883 hepatitis C treatment ISO RGD:1353256 D RGD:9068941 20201203 RGD PMID:28129465|REF_RGD_ID:40818432 12322578 F2 coagulation factor II, thrombin gene DOID:1936 atherosclerosis treatment ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:20979870|REF_RGD_ID:7387315 12322578 F2 coagulation factor II, thrombin gene DOID:1969 cerebral palsy ISO RGD:1353256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:15059842|PMID:15534175|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:34110897|PMID:34355501|PMID:6305407|PMID:6405779|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 12322578 F2 coagulation factor II, thrombin gene DOID:2048 autoimmune hepatitis ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:20821236|REF_RGD_ID:5147775 12322578 F2 coagulation factor II, thrombin gene DOID:2048 autoimmune hepatitis disease_progression ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21711423|REF_RGD_ID:5147750 12322578 F2 coagulation factor II, thrombin gene DOID:2235 prothrombin deficiency ISO RGD:1353256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital factor II deficiency | ClinVar Annotator: match by term: Factor II deficiency PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:13228032|PMID:15059842|PMID:15534175|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19598065|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:31064749|PMID:34110897|PMID:34355501|PMID:6305407|PMID:6405779|PMID:7740448|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 12322578 F2 coagulation factor II, thrombin gene DOID:2297 leptospirosis ISO RGD:1353256 D RGD:9068941 20201203 RGD protein:increased expression:blood plasma (human) PMID:18171258|REF_RGD_ID:40818429 12322578 F2 coagulation factor II, thrombin gene DOID:2297 leptospirosis severity ISO RGD:1353256 D RGD:9068941 20201203 RGD protein:increased expression:blood plasma (human) PMID:20002620|REF_RGD_ID:40819859 12322578 F2 coagulation factor II, thrombin gene DOID:2316 brain ischemia ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14753426|PMID:15534175 12322578 F2 coagulation factor II, thrombin gene DOID:2394 ovarian cancer ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21833453|REF_RGD_ID:5147781 12322578 F2 coagulation factor II, thrombin gene DOID:2452 thrombophilia ISO RGD:1353256 D RGD:9068941 20200730 CTD CTD Direct Evidence: marker/mechanism PMID:16628723 12322578 F2 coagulation factor II, thrombin gene DOID:2452 thrombophilia ISO RGD:61996 D RGD:9068941 20200730 RGD PMID:21232185|REF_RGD_ID:7387320 12322578 F2 coagulation factor II, thrombin gene DOID:2527 nephrosis ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18541230 12322578 F2 coagulation factor II, thrombin gene DOID:2527 nephrosis ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:18541230|REF_RGD_ID:6893577 12322578 F2 coagulation factor II, thrombin gene DOID:2841 asthma ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Rhinosinusitis, associated with Nasal Polyps;protein:increased expression:nasal mucus PMID:21711961|REF_RGD_ID:5147783 12322578 F2 coagulation factor II, thrombin gene DOID:2841 asthma ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21658190|REF_RGD_ID:5147753 12322578 F2 coagulation factor II, thrombin gene DOID:2921 glomerulonephritis ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:17519558|REF_RGD_ID:6893586 12322578 F2 coagulation factor II, thrombin gene DOID:2921 glomerulonephritis ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression;urine PMID:15164604|REF_RGD_ID:6893593 12322578 F2 coagulation factor II, thrombin gene DOID:2987 familial Mediterranean fever ISO RGD:1353256 D RGD:9068941 20201203 RGD protein:increased expression:blood plasma (human) PMID:16721492|REF_RGD_ID:40818434 12322578 F2 coagulation factor II, thrombin gene DOID:3070 high grade glioma treatment ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:15975137|REF_RGD_ID:1578509 12322578 F2 coagulation factor II, thrombin gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21660493|REF_RGD_ID:5147752 12322578 F2 coagulation factor II, thrombin gene DOID:3310 atopic dermatitis ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21488867|REF_RGD_ID:5147756 12322578 F2 coagulation factor II, thrombin gene DOID:3393 coronary artery disease treatment ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:14961168|REF_RGD_ID:10449426 12322578 F2 coagulation factor II, thrombin gene DOID:3525 middle cerebral artery infarction ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29651748 12322578 F2 coagulation factor II, thrombin gene DOID:3526 cerebral infarction ISO RGD:1353256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ischemic stroke | ClinVar Annotator: match by term: Ischemic stroke, susceptibility to PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:15059842|PMID:15534175|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:34110897|PMID:34355501|PMID:6305407|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 12322578 F2 coagulation factor II, thrombin gene DOID:3526 cerebral infarction susceptibility ISO RGD:1353256 D RGD:7240710 20230517 OMIM 12322578 F2 coagulation factor II, thrombin gene DOID:3572 intracranial sinus thrombosis ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12269725 12322578 F2 coagulation factor II, thrombin gene DOID:3770 pulmonary fibrosis ISO RGD:62288 D RGD:9068941 20200609 RGD PMID:21312187|REF_RGD_ID:5147767 12322578 F2 coagulation factor II, thrombin gene DOID:418 systemic scleroderma ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:9374919|REF_RGD_ID:11565087 12322578 F2 coagulation factor II, thrombin gene DOID:4195 hyperglycemia ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:18487475|REF_RGD_ID:2313851 12322578 F2 coagulation factor II, thrombin gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:22065054|REF_RGD_ID:6893520 12322578 F2 coagulation factor II, thrombin gene DOID:4481 allergic rhinitis ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus PMID:21711961|REF_RGD_ID:5147783 12322578 F2 coagulation factor II, thrombin gene DOID:4724 brain edema ISO RGD:61996 D RGD:9068941 20200609 RGD associated with Cerebral Hemorrhage PMID:20541575|REF_RGD_ID:5490126 12322578 F2 coagulation factor II, thrombin gene DOID:5082 liver cirrhosis ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10216089 12322578 F2 coagulation factor II, thrombin gene DOID:5082 liver cirrhosis severity ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (human) PMID:15726661|REF_RGD_ID:14985236 12322578 F2 coagulation factor II, thrombin gene DOID:5082 liver cirrhosis severity ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:29768734|REF_RGD_ID:14985235 12322578 F2 coagulation factor II, thrombin gene DOID:5082 liver cirrhosis severity ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:9863491|REF_RGD_ID:14401592 12322578 F2 coagulation factor II, thrombin gene DOID:5419 schizophrenia ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25821032 12322578 F2 coagulation factor II, thrombin gene DOID:5614 eye disease ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:mutation: :20210G>A (human) PMID:15077257|REF_RGD_ID:7394769 12322578 F2 coagulation factor II, thrombin gene DOID:5844 myocardial infarction ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10027711|PMID:9292507|PMID:9531249 12322578 F2 coagulation factor II, thrombin gene DOID:5844 myocardial infarction susceptibility ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:polymorphism::20210G>A(human) PMID:12480694|REF_RGD_ID:1581022 12322578 F2 coagulation factor II, thrombin gene DOID:630 genetic disease ISO RGD:1353256 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31582550|PMID:32194638 12322578 F2 coagulation factor II, thrombin gene DOID:684 hepatocellular carcinoma ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2821104 12322578 F2 coagulation factor II, thrombin gene DOID:684 hepatocellular carcinoma severity ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with liver cirrhosis;protein:altered expression, altered processing:liver (human) PMID:7620113|REF_RGD_ID:14975114 12322578 F2 coagulation factor II, thrombin gene DOID:7148 rheumatoid arthritis ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26001728 12322578 F2 coagulation factor II, thrombin gene DOID:783 end stage renal disease treatment ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:22473220|REF_RGD_ID:7387323 12322578 F2 coagulation factor II, thrombin gene DOID:8337 appendicitis ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21663567|REF_RGD_ID:5147751 12322578 F2 coagulation factor II, thrombin gene DOID:8506 bullous pemphigoid ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21488867|REF_RGD_ID:5147756 12322578 F2 coagulation factor II, thrombin gene DOID:8536 herpes zoster treatment ISO RGD:1353256 D RGD:9068941 20201203 RGD PMID:11449671|REF_RGD_ID:40818431 12322578 F2 coagulation factor II, thrombin gene DOID:8577 ulcerative colitis ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21593018|REF_RGD_ID:5147754 12322578 F2 coagulation factor II, thrombin gene DOID:874 bacterial pneumonia ISO RGD:61996 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21897338|REF_RGD_ID:6893486 12322578 F2 coagulation factor II, thrombin gene DOID:8778 Crohn's disease ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21593018|REF_RGD_ID:5147754 12322578 F2 coagulation factor II, thrombin gene DOID:9000039 Spinal Cord Injuries ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:16344894|REF_RGD_ID:2303423 12322578 F2 coagulation factor II, thrombin gene DOID:9000040 Hypertrophy ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26385185 12322578 F2 coagulation factor II, thrombin gene DOID:9000184 Ventricular Fibrillation ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Myocardial Infarction;protein:increased expression:plasma: PMID:16649726|REF_RGD_ID:11565086 12322578 F2 coagulation factor II, thrombin gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Carcinoma, Small cell;protein:increased expression:brain PMID:22065054|REF_RGD_ID:6893520 12322578 F2 coagulation factor II, thrombin gene DOID:9000998 Brain Injuries severity ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21355766|REF_RGD_ID:5147766 12322578 F2 coagulation factor II, thrombin gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:22624582|REF_RGD_ID:11041730 12322578 F2 coagulation factor II, thrombin gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21496882|REF_RGD_ID:5147784 12322578 F2 coagulation factor II, thrombin gene DOID:9001708 Hemorrhagic Shock ISO RGD:61996 D RGD:9068941 20200609 RGD protein:decreased activity:blood (rat) PMID:21550061|REF_RGD_ID:5132267 12322578 F2 coagulation factor II, thrombin gene DOID:9001747 Ventricular Dysfunction, Left severity ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Muscular Dystrophy, Duchenne PMID:16122628|REF_RGD_ID:11565083 12322578 F2 coagulation factor II, thrombin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:polymorphism: :20210G>A(human) PMID:21574459|REF_RGD_ID:6893575 12322578 F2 coagulation factor II, thrombin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1353256 D RGD:9068941 20201203 RGD protein:increased expression:plasma (human) PMID:14983223|REF_RGD_ID:2313643 12322578 F2 coagulation factor II, thrombin gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21955218|REF_RGD_ID:6893574 12322578 F2 coagulation factor II, thrombin gene DOID:9002211 Hyperalgesia ISO RGD:62288 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:16251448|REF_RGD_ID:7387272 12322578 F2 coagulation factor II, thrombin gene DOID:9002315 Kidney Calculi susceptibility ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:haplotypes: : PMID:21067798|REF_RGD_ID:6893526 12322578 F2 coagulation factor II, thrombin gene DOID:9002331 Knee Osteoarthritis ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21041276|REF_RGD_ID:5147774 12322578 F2 coagulation factor II, thrombin gene DOID:9002457 Experimental Arthritis ISO RGD:62288 D RGD:9068941 20200609 RGD PMID:21436072|REF_RGD_ID:5147764 12322578 F2 coagulation factor II, thrombin gene DOID:9002676 Cerebral Hemorrhage severity ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21244583|REF_RGD_ID:5147770 12322578 F2 coagulation factor II, thrombin gene DOID:9002955 Nerve Degeneration ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19969022 12322578 F2 coagulation factor II, thrombin gene DOID:9003049 Femur Head Necrosis ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with kidney transplantation;20210G>A(human) PMID:16968732|REF_RGD_ID:6902907 12322578 F2 coagulation factor II, thrombin gene DOID:9003121 Thromboembolism ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14693181 12322578 F2 coagulation factor II, thrombin gene DOID:9003121 Thromboembolism ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:11471205|REF_RGD_ID:1580340 12322578 F2 coagulation factor II, thrombin gene DOID:9003121 Thromboembolism ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with coronary artery disease; DNA:polymorphism: :20210G>A(human) PMID:21955693|REF_RGD_ID:6893596 12322578 F2 coagulation factor II, thrombin gene DOID:9003121 Thromboembolism ISO RGD:1353256 D RGD:9068941 20201127 RGD associated with infective endocarditis;protein:increased expression:blood plasma (human) PMID:15049384|REF_RGD_ID:40819860 12322578 F2 coagulation factor II, thrombin gene DOID:9003281 Spontaneous Abortions ISO RGD:1353256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 2 PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:15059842|PMID:15534175|PMID:16493002|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:28492532|PMID:6305407|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 12322578 F2 coagulation factor II, thrombin gene DOID:9003311 Urinary Calculi ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:22494008|REF_RGD_ID:6893519 12322578 F2 coagulation factor II, thrombin gene DOID:9003505 Venous Thromboembolism ISO RGD:1353256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Venous thromboembolism PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:15059842|PMID:15534175|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:34110897|PMID:34355501|PMID:6305407|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 12322578 F2 coagulation factor II, thrombin gene DOID:9003565 Paratuberculosis ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22633222 12322578 F2 coagulation factor II, thrombin gene DOID:9003871 Venous Thrombosis ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12296757|PMID:19920886|PMID:9869612 12322578 F2 coagulation factor II, thrombin gene DOID:9003871 Venous Thrombosis ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:9409269|REF_RGD_ID:1580342 12322578 F2 coagulation factor II, thrombin gene DOID:9003871 Venous Thrombosis ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:23535565|REF_RGD_ID:10449430 12322578 F2 coagulation factor II, thrombin gene DOID:9004009 Reperfusion Injury ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:20705928|REF_RGD_ID:5147777 12322578 F2 coagulation factor II, thrombin gene DOID:9004082 Mesenteric Ischemia ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24282370 12322578 F2 coagulation factor II, thrombin gene DOID:9004484 Sepsis ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:12361199|REF_RGD_ID:10449428 12322578 F2 coagulation factor II, thrombin gene DOID:9004484 Sepsis treatment ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:19705256|REF_RGD_ID:7387324 12322578 F2 coagulation factor II, thrombin gene DOID:9004610 Acute Lung Injury ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:22804886|REF_RGD_ID:7387313 12322578 F2 coagulation factor II, thrombin gene DOID:9005166 Contusions ISO RGD:61996 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries;mRNA:increased expression:spinal cord PMID:11186232|REF_RGD_ID:7387307 12322578 F2 coagulation factor II, thrombin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62288 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:15990447|REF_RGD_ID:2313862 12322578 F2 coagulation factor II, thrombin gene DOID:9005930 Endotoxemia ISO RGD:1353256 D RGD:9068941 20201127 RGD protein:increased expression:blood plasma (human) PMID:10887118|REF_RGD_ID:40818427 12322578 F2 coagulation factor II, thrombin gene DOID:9005930 Endotoxemia ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:20519137|PMID:21396682|PMID:22227956|REF_RGD_ID:5147765|REF_RGD_ID:5147779|REF_RGD_ID:6893482 12322578 F2 coagulation factor II, thrombin gene DOID:9005930 Endotoxemia severity ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with liver cirrhosis;protein:increased expression:plasma (human) PMID:9863491|REF_RGD_ID:14401592 12322578 F2 coagulation factor II, thrombin gene DOID:9005930 Endotoxemia severity ISO RGD:1353256 D RGD:9068941 20201127 RGD associated with liver cirrhosis;protein:increased expression:blood plasma (human) PMID:7615203|REF_RGD_ID:14974253 12322578 F2 coagulation factor II, thrombin gene DOID:9005930 Endotoxemia treatment ISO RGD:1353256 D RGD:9068941 20201203 RGD PMID:10604885|REF_RGD_ID:40818436 12322578 F2 coagulation factor II, thrombin gene DOID:9005930 Endotoxemia treatment ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:25396762|REF_RGD_ID:10449434 12322578 F2 coagulation factor II, thrombin gene DOID:9007075 Congenital Prothrombin Deficiency ISO RGD:1353256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital prothrombin deficiency | ClinVar Annotator: match by term: Hereditary factor II deficiency disease | ClinVar Annotator: match by term: Prolonged prothrombin time PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:10651742|PMID:11154146|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:12149217|PMID:13217497|PMID:13228032|PMID:1349838|PMID:1421398|PMID:14489469|PMID:15059842|PMID:15534175|PMID:1557383|PMID:16487178|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19598065|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2719946|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:31064749|PMID:3242619|PMID:34110897|PMID:34355501|PMID:3567158|PMID:3771562|PMID:3801671|PMID:444582|PMID:6085205|PMID:625142|PMID:6305407|PMID:6405779|PMID:7740448|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 12322578 F2 coagulation factor II, thrombin gene DOID:9007075 Congenital Prothrombin Deficiency susceptibility ISO RGD:1353256 D RGD:7240710 20230517 OMIM 12322578 F2 coagulation factor II, thrombin gene DOID:9007096 Stroke ISO RGD:1353256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CEREBROVASCULAR ACCIDENT PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:15059842|PMID:15534175|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:34110897|PMID:34355501|PMID:6305407|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 12322578 F2 coagulation factor II, thrombin gene DOID:9007153 Pediatric Crohn's Disease ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21287673|REF_RGD_ID:5147769 12322578 F2 coagulation factor II, thrombin gene DOID:9007329 Human Viral Hepatitis disease_progression ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21805422|REF_RGD_ID:5147782 12322578 F2 coagulation factor II, thrombin gene DOID:9007367 Septic Peritonitis severity ISO RGD:62288 D RGD:9068941 20201203 RGD PMID:18927430|REF_RGD_ID:40818433 12322578 F2 coagulation factor II, thrombin gene DOID:9007479 Habitual Abortions ISO RGD:1353256 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 2 PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:15059842|PMID:15534175|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:34110897|PMID:34355501|PMID:6305407|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 12322578 F2 coagulation factor II, thrombin gene DOID:9007479 Habitual Abortions susceptibility ISO RGD:1353256 D RGD:7240710 20230517 OMIM 12322578 F2 coagulation factor II, thrombin gene DOID:9007874 Liver Failure ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18618250 12322578 F2 coagulation factor II, thrombin gene DOID:9007874 Liver Failure severity ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with liver cirrhosis;protein:increased expression:blood plasma (human) PMID:7615203|REF_RGD_ID:14974253 12322578 F2 coagulation factor II, thrombin gene DOID:9008217 Hemorrhage ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7740448 12322578 F2 coagulation factor II, thrombin gene DOID:9008217 Hemorrhage ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:20664909|REF_RGD_ID:10449431 12322578 F2 coagulation factor II, thrombin gene DOID:9008217 Hemorrhage ISO RGD:61996 D RGD:9068941 20200609 RGD associated with Wounds and Injuries PMID:23481505|REF_RGD_ID:10449433 12322578 F2 coagulation factor II, thrombin gene DOID:9008217 Hemorrhage ISO RGD:62288 D RGD:9068941 20200609 RGD PMID:9636195|REF_RGD_ID:734956 12322578 F2 coagulation factor II, thrombin gene DOID:9074 systemic lupus erythematosus ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:20807656|REF_RGD_ID:5147776 12322578 F2 coagulation factor II, thrombin gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:SNP: :19911A>G (rs3136516) (human) PMID:21239755|REF_RGD_ID:5147772 12322578 F2 coagulation factor II, thrombin gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:16046705|REF_RGD_ID:1601105 12322578 F2 coagulation factor II, thrombin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:18487475|REF_RGD_ID:2313851 12322578 F2 coagulation factor II, thrombin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17971179|REF_RGD_ID:2313852 12322578 F2 coagulation factor II, thrombin gene DOID:9452 fatty liver disease ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008134 12322578 F2 coagulation factor II, thrombin gene DOID:9477 pulmonary embolism no_association ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:20221C>T (human) PMID:25316662|REF_RGD_ID:10449427 12322578 F2 coagulation factor II, thrombin gene DOID:9477 pulmonary embolism susceptibility ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:19911A>G (human) PMID:25316662|REF_RGD_ID:10449427 12322578 F2 coagulation factor II, thrombin gene DOID:9540 vascular skin disease ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17535202 12322578 F2 coagulation factor II, thrombin gene DOID:9970 obesity ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22841818 12322578 F2 coagulation factor II, thrombin gene DOID:9970 obesity ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21210148|REF_RGD_ID:5147773 12322578 F2 coagulation factor II, thrombin gene DOID:9970 obesity ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:23628972|REF_RGD_ID:7387310 12322578 F2 coagulation factor II, thrombin gene DOID:9970 obesity ISO RGD:62288 D RGD:9068941 20200609 RGD PMID:23628972|REF_RGD_ID:7387310 12322624 LOC102155374 spermatogenesis-associated protein 31E1 gene DOID:630 genetic disease ISO RGD:1351279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322669 NFE2L1 NFE2 like bZIP transcription factor 1 gene DOID:630 genetic disease ISO RGD:1323705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322669 NFE2L1 NFE2 like bZIP transcription factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1323706 D RGD:9068941 20220825 MouseDO OMIM:114550 12322669 NFE2L1 NFE2 like bZIP transcription factor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1323705 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Global developmental delay 12322669 NFE2L1 NFE2 like bZIP transcription factor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1323706 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:0050745 diffuse large B-cell lymphoma susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNP: :(rs1695)(human) PMID:19338043|REF_RGD_ID:8547939 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:0050860 colorectal adenoma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNP: :p.A114V (human) PMID:20375710|REF_RGD_ID:7495820 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:mucosa: PMID:16982972|REF_RGD_ID:10755432 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:0050908 myelodysplastic syndrome susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:313A>G (p.I105V)(human) PMID:23278642|REF_RGD_ID:10755416 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732257 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:2758 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22272023|REF_RGD_ID:10401942 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15526359|PMID:16332721|PMID:20188851|PMID:21785164|PMID:2563599|PMID:7585603 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732257 D RGD:9068941 20200609 RGD associated with stomach disease PMID:28182092|REF_RGD_ID:14700971 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:2758 D RGD:9068941 20200609 RGD PMID:21092749|REF_RGD_ID:10401933 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:2758 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X PMID:23981577|REF_RGD_ID:10401944 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:0060500 drug allergy ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:0060500 drug allergy susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD associated with Acquired Immunodeficiency Syndrome;DNA:polymorphism:exon:A>G313 (rs1695) (human) PMID:16297214|REF_RGD_ID:5490995 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:0060892 late onset Parkinson's disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:A>G313 (human) PMID:17250723|REF_RGD_ID:5148021 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23643483 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:10283 prostate cancer ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:9111193|REF_RGD_ID:6906883 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (human) PMID:17067754|REF_RGD_ID:4142515 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:1037 lymphoid leukemia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I105V(human) PMID:12010828|REF_RGD_ID:10755404 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:1059 intellectual disability ISO RGD:732257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:10591 pre-eclampsia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.I105V (human) PMID:11826024|REF_RGD_ID:737707 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:10652 Alzheimer's disease ISO RGD:1620115 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex PMID:23211594|REF_RGD_ID:10401913 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:10652 Alzheimer's disease ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:24584466|REF_RGD_ID:10401912 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:17911365|REF_RGD_ID:5490271 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:15805147|REF_RGD_ID:5490123 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:10763 hypertension ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24915237 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:deletion, haplotype:: (human) PMID:28221473|REF_RGD_ID:12792224 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism::(rs1695)(human) PMID:22487578|REF_RGD_ID:8547932 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:11054 urinary bladder cancer ISO RGD:2758 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:21213404|REF_RGD_ID:10401939 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:11054 urinary bladder cancer ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12500666|PMID:22306368|PMID:7729958 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:11054 urinary bladder cancer ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:18544563|PMID:9111193|REF_RGD_ID:6906879|REF_RGD_ID:6906883 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:11132 prostatic hypertrophy treatment ISO RGD:2758 D RGD:9068941 20200609 RGD PMID:24205794|REF_RGD_ID:10401934 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:1115 sarcoma ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17152492 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:11476 osteoporosis ISO RGD:732257 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:missense mutation:cds:c.313A>G (p.I105V) (human) PMID:24593045|REF_RGD_ID:10401929 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (human) PMID:14726935|REF_RGD_ID:4142520 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:1205 allergic disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) PMID:20526719|REF_RGD_ID:5133266 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:12361 Graves' disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:17980001|REF_RGD_ID:8547807 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:12849 autistic disorder ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17404132 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:13580 cholestasis treatment ISO RGD:2758 D RGD:9068941 20200609 RGD PMID:23960717|REF_RGD_ID:10401941 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:14067 Plasmodium falciparum malaria severity ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:19635899|REF_RGD_ID:10450848 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:14330 Parkinson's disease ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17190945|PMID:23721876 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:14330 Parkinson's disease ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:del: : PMID:9802272|REF_RGD_ID:1358669 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:1579 respiratory system disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNPs: :p.I105V (rs1695), rs749174, rs6591255 (human) PMID:19403501|REF_RGD_ID:4140942 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:1612 breast cancer treatment ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.I105V (rs1695) (human) PMID:23812950|REF_RGD_ID:10755330 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:11511301|REF_RGD_ID:6906882 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:1793 pancreatic cancer ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:19536452|REF_RGD_ID:2317805 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.I105V (rs1695) (human) PMID:19786118|REF_RGD_ID:2317804 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:1909 melanoma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I50V(human) PMID:23568549|REF_RGD_ID:8547833 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:2377 multiple sclerosis disease_progression ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) PMID:10680782|REF_RGD_ID:5490267 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:2394 ovarian cancer treatment ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I105V(human) PMID:19786980|REF_RGD_ID:5688741 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:2773 contact dermatitis ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:2841 asthma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNP: :p.A114V (human) PMID:18709160|REF_RGD_ID:4140947 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:2841 asthma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNPs: :p.I105V, p.A114V (human) PMID:20858151|REF_RGD_ID:5490985 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:2841 asthma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNPs:exons:p.I105V (rs1695), A114V (rs1138272) (human) PMID:15693909|REF_RGD_ID:5490999 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:2841 asthma ISO RGD:732257 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:11994713|PMID:16870661|PMID:18988661|PMID:24117884|PMID:29411558 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:2841 asthma disease_progression ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (human) PMID:18057098|REF_RGD_ID:4140951 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:2841 asthma no_association ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNPs: :p.I105V, p.A114V (human) PMID:16176403|REF_RGD_ID:4142519 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:2841 asthma severity ISO RGD:1620115 D RGD:9068941 20200609 RGD PMID:18787219|REF_RGD_ID:4140946 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:2841 asthma severity ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) PMID:10806136|REF_RGD_ID:4142526 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:2841 asthma susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNPs:intron,exon:(rs749174), (rs1138272)(human) PMID:20210814|REF_RGD_ID:5490991 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:2998 testicular cancer ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:9111193|REF_RGD_ID:6906883 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:3021 acute kidney failure ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:3021 acute kidney failure ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:20798258|REF_RGD_ID:6903954 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:305 carcinoma ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11196146 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:3069 malignant astrocytoma susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.A114V (human) PMID:12241105|REF_RGD_ID:5490125 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:3070 high grade glioma ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16899598 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:3070 high grade glioma susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) PMID:15006924|REF_RGD_ID:5490124 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (human) PMID:17439673|REF_RGD_ID:4142514 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (human) PMID:20467983|REF_RGD_ID:4140938 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:3310 atopic dermatitis ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) PMID:20674822|REF_RGD_ID:5490981 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:3310 atopic dermatitis susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) PMID:19842992|REF_RGD_ID:5490540 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16109392 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:3347 osteosarcoma ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17152492 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:3407 carotid artery disease ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16973168 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:3407 carotid artery disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (human) PMID:16973168|REF_RGD_ID:5490250 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:3426 vestibular disease ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18776599 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:methylation: : PMID:16537562|REF_RGD_ID:2317809 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:12488200|REF_RGD_ID:2317811 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:3587 pancreatic ductal carcinoma resistance ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:17265526|REF_RGD_ID:2317806 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:3602 toxic encephalopathy susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:17022435|REF_RGD_ID:5490249 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.I105V (human) PMID:17916905|REF_RGD_ID:14700982 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:3770 pulmonary fibrosis ISO RGD:732257 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic PMID:17044913|REF_RGD_ID:4142516 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:3904 bronchus carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD mRNA:decreased expression:bronchus, epithelial cell PMID:10749130|REF_RGD_ID:4142527 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNP: :p.A114V (human) PMID:18258609|REF_RGD_ID:4140950 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (human) PMID:19174490|REF_RGD_ID:4140944 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:409 liver disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:12297838|REF_RGD_ID:4142524 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:4250 conjunctivochalasis ISO RGD:732257 D RGD:9068941 20200609 RGD protein:increased expression:tear: PMID:20861728|REF_RGD_ID:8547943 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:4450 renal cell carcinoma ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:4450 renal cell carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:20464042|REF_RGD_ID:8547946 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:10383153|REF_RGD_ID:6906878 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:480 movement disease severity ISO RGD:732257 D RGD:9068941 20200609 RGD associated with with schizophrenia; DNA:polymorphism:exon:p.I105V (human) PMID:19051221|REF_RGD_ID:5490234 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:19484794|REF_RGD_ID:4140940 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:4947 cholangiocarcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:15467712|REF_RGD_ID:2317198 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:4947 cholangiocarcinoma treatment ISO RGD:732257 D RGD:9068941 20200609 RGD human cell line in a mouse model PMID:12805482|REF_RGD_ID:14401711 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:4961 bone marrow disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;DNA:polymorphism:cds:p.I105V(human) PMID:16995867|REF_RGD_ID:10755423 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:4990 essential tremor ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18215156 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:557 kidney disease ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12868187 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:574 peripheral nervous system disease ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20979931 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:574 peripheral nervous system disease severity ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V(human) PMID:19223573|REF_RGD_ID:5490233 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:630 genetic disease ISO RGD:732257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:670 amphetamine abuse ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15729709 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9029167 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:increased methylation:promoter PMID:22536438|REF_RGD_ID:14401712 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:732257 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:74 hematopoietic system disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I105V(human) PMID:18540691|REF_RGD_ID:10755418 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:8283 peritonitis ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:18962899|REF_RGD_ID:4140945 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:850 lung disease ISO RGD:732257 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:18962899|REF_RGD_ID:4140945 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20843134 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:8567 Hodgkin's lymphoma ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11406608 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:2758 D RGD:9068941 20200609 RGD PMID:24312188|REF_RGD_ID:10401940 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581815 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:8646 substance-induced psychosis ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15729709 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:8692 myeloid leukemia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.I105V (rs1695) (human) PMID:20843134|REF_RGD_ID:10755535 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:8893 psoriasis ISO RGD:732257 D RGD:9068941 20200609 RGD protein:increased expression:epidermis: PMID:21805023|REF_RGD_ID:5491007 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9000011 Gallbladder Neoplasms susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.I105V (rs1695) (human) PMID:16760134|REF_RGD_ID:2317808 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21133646|PMID:21364753 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9000918 Disease Progression ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9000970 Focal Nodular Hyperplasia ISO RGD:2758 D RGD:9068941 20220708 RGD protein:increased expression:liver (rat) PMID:3965145|REF_RGD_ID:152998958 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2758 D RGD:9068941 20200609 RGD PMID:12016164|REF_RGD_ID:2317823 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2758 D RGD:9068941 20220708 RGD protein:increased expression:liver (rat) PMID:3965145|REF_RGD_ID:152998958 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20188851|PMID:2563599|PMID:3124819|PMID:7585603 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11196146|PMID:15538743|PMID:17173048|PMID:19223546|PMID:22581815 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9002315 Kidney Calculi ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24360074 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism: : rs1695(human) PMID:25008867|REF_RGD_ID:10755412 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9003157 Respiratory Sounds ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18950799 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9003613 Laryngeal Neoplasms ISO RGD:732257 D RGD:9068941 20200609 RGD protein:increased expression:larynx PMID:18335753|REF_RGD_ID:4140949 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9003657 Perennial Allergic Rhinitis susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) PMID:17181111|REF_RGD_ID:4142523 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:732257 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1620115 D RGD:9068941 20200609 RGD PMID:17142801|REF_RGD_ID:6903953 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9004289 Drug-Induced Leukopenia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD associated with Urologic Neoplasms;DNA:polymorphism:cds:p.I105V(human) PMID:17593093|REF_RGD_ID:10755415 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.I105V (rs1695) (human) PMID:23812950|REF_RGD_ID:10755330 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9004814 Chromosome Aberrations ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16537716 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17909032 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9005452 Ureteral Calculi ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24360074 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9005700 Airway Obstruction severity ISO RGD:732257 D RGD:9068941 20200609 RGD associated with Bronchial Hyperreactivity;DNA:polymorphism:exon:p.I105V (rs1695) (human) PMID:10919500|REF_RGD_ID:4142525 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9005749 Necrosis ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14710442 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9005837 Cholangiofibrosis ISO RGD:2758 D RGD:9068941 20200609 RGD PMID:22576464|REF_RGD_ID:10401932 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9007073 Cough ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:18447907|REF_RGD_ID:4140948 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9007090 Experimental Seizures treatment ISO RGD:2758 D RGD:9068941 20200609 RGD PMID:22038365|REF_RGD_ID:10401935 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750|PMID:25226513 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9007417 Pseudomonas Infections susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:18976645|REF_RGD_ID:4142522 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9007970 Chronic Cerebral Hypoperfusion treatment ISO RGD:2758 D RGD:9068941 20200609 RGD PMID:16645134|REF_RGD_ID:10401930 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:732257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:19922504 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25322848 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:11906705|REF_RGD_ID:10755328 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I105V(human) PMID:21729529|REF_RGD_ID:10755422 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD chemotherapy-induced; PMID:11553769|REF_RGD_ID:10755420 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) PMID:20739761|REF_RGD_ID:5490963 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9471 meningitis ISO RGD:732257 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:9262228|REF_RGD_ID:5491002 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9538 multiple myeloma disease_progression ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:23953887|REF_RGD_ID:10755413 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9538 multiple myeloma no_association ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I105V(human) PMID:18061666|REF_RGD_ID:10755419 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9538 multiple myeloma treatment ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:17512053|REF_RGD_ID:11075094 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9669 senile cataract susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:10892871|REF_RGD_ID:8547933 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9675 pulmonary emphysema ISO RGD:732257 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive;DNA:SNP (human) PMID:20525719|REF_RGD_ID:4140935 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:haplotype:cds: PMID:10666194|REF_RGD_ID:10450829 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism: :1578 a>G(human) PMID:23979883|REF_RGD_ID:10755417 12322688 GSTP1 glutathione S-transferase pi 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:transition mutation:exon: PMID:15738600|REF_RGD_ID:10755321 12322705 SHPRH SNF2 histone linker PHD RING helicase gene DOID:630 genetic disease ISO RGD:1321190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322747 RAD18 RAD18 E3 ubiquitin protein ligase gene DOID:2843 long QT syndrome ISO RGD:1315923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12322747 RAD18 RAD18 E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:1315923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322747 RAD18 RAD18 E3 ubiquitin protein ligase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12322747 RAD18 RAD18 E3 ubiquitin protein ligase gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1315923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12322767 SEPHS1 selenophosphate synthetase 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1322506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12322767 SEPHS1 selenophosphate synthetase 1 gene DOID:630 genetic disease ISO RGD:1322506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322785 MAPK10 mitogen-activated protein kinase 10 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:733441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly and epileptic encephalopathy PMID:16249883 12322785 MAPK10 mitogen-activated protein kinase 10 gene DOID:10283 prostate cancer ISO RGD:733441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12322785 MAPK10 mitogen-activated protein kinase 10 gene DOID:10652 Alzheimer's disease ISO RGD:733441 D RGD:9068941 20200609 RGD protein:increased expression:CA1 field of hippocampus: PMID:11208906|REF_RGD_ID:10412676 12322785 MAPK10 mitogen-activated protein kinase 10 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:733441 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs2589506) (human) 12322785 MAPK10 mitogen-activated protein kinase 10 gene DOID:6000 congestive heart failure ISO RGD:733441 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12322785 MAPK10 mitogen-activated protein kinase 10 gene DOID:630 genetic disease ISO RGD:733441 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322785 MAPK10 mitogen-activated protein kinase 10 gene DOID:9001793 Generalized Epilepsy ISO RGD:733441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 12322785 MAPK10 mitogen-activated protein kinase 10 gene DOID:9008006 Childhood-Onset Neurodegeneration with Brain Atrophy ISO RGD:733441 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY PMID:25741868 12322822 OTUB2 OTU deubiquitinase, ubiquitin aldehyde binding 2 gene DOID:0080054 achondrogenesis type IA ISO RGD:1315448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12322822 OTUB2 OTU deubiquitinase, ubiquitin aldehyde binding 2 gene DOID:0081063 DICER1 syndrome ISO RGD:1315448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 12322822 OTUB2 OTU deubiquitinase, ubiquitin aldehyde binding 2 gene DOID:630 genetic disease ISO RGD:1315448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322822 OTUB2 OTU deubiquitinase, ubiquitin aldehyde binding 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315448 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12322832 TCEANC transcription elongation factor A N-terminal and central domain containing gene DOID:0050777 Joubert syndrome ISO RGD:2303433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 12322832 TCEANC transcription elongation factor A N-terminal and central domain containing gene DOID:12849 autistic disorder ISO RGD:2303433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12322832 TCEANC transcription elongation factor A N-terminal and central domain containing gene DOID:630 genetic disease ISO RGD:2303433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322832 TCEANC transcription elongation factor A N-terminal and central domain containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2303433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12322845 PLEC plectin gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:731690 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia 12322845 PLEC plectin gene DOID:0060736 epidermolysis bullosa simplex Ogna type ISO RGD:731690 D RGD:7240710 20180130 OMIM 12322845 PLEC plectin gene DOID:0060736 epidermolysis bullosa simplex Ogna type ISO RGD:731690 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:11851880|PMID:15206692|PMID:15810881|PMID:18414213|PMID:20016501|PMID:20301336|PMID:22854623|PMID:22864774|PMID:23757202|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28400893|PMID:28492532|PMID:29334134|PMID:29453417|PMID:32017015 12322845 PLEC plectin gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:731690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12322845 PLEC plectin gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731690 D RGD:7240710 20180130 OMIM 12322845 PLEC plectin gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:10446808|PMID:10652002|PMID:11851880|PMID:12071635|PMID:15654962|PMID:15659326|PMID:15810881|PMID:17576681|PMID:18414213|PMID:19945614|PMID:20016501|PMID:20301336|PMID:20447487|PMID:20665883|PMID:21109228|PMID:21263134|PMID:22854623|PMID:22864774|PMID:23289980|PMID:23757202|PMID:23774525|PMID:24033266|PMID:24253200|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26467025|PMID:27392081|PMID:27813154|PMID:28400893|PMID:28492532|PMID:28824526|PMID:28830826|PMID:29050564|PMID:29334134|PMID:29352809|PMID:29453417|PMID:29797489|PMID:30293987|PMID:30919572|PMID:31319225|PMID:31513275|PMID:31517061|PMID:31641117|PMID:32017015|PMID:8696340|PMID:8830774|PMID:8894687|PMID:9536098 12322845 PLEC plectin gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731690 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:10446808|PMID:10652002|PMID:11851880|PMID:12071635|PMID:15654962|PMID:15659326|PMID:15810881|PMID:17576681|PMID:18414213|PMID:19945614|PMID:20016501|PMID:20052759|PMID:20301336|PMID:20447487|PMID:20665883|PMID:21109228|PMID:21263134|PMID:22854623|PMID:22864774|PMID:23289980|PMID:23757202|PMID:23774525|PMID:24033266|PMID:24253200|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26467025|PMID:27392081|PMID:27813154|PMID:28400893|PMID:28492532|PMID:28824526|PMID:28830826|PMID:29050564|PMID:29334134|PMID:29352809|PMID:29453417|PMID:29797489|PMID:30919572|PMID:31319225|PMID:31517061|PMID:31641117|PMID:32017015|PMID:8696340|PMID:8830774|PMID:8894687|PMID:9536098 12322845 PLEC plectin gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731690 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:10446808|PMID:10652002|PMID:11851880|PMID:12071635|PMID:15206692|PMID:15654962|PMID:15659326|PMID:15810881|PMID:17576681|PMID:18414213|PMID:19945614|PMID:20016501|PMID:20052759|PMID:20301336|PMID:20447487|PMID:20665883|PMID:21109228|PMID:21263134|PMID:22854623|PMID:22864774|PMID:23289980|PMID:23757202|PMID:23774525|PMID:24033266|PMID:24253200|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26467025|PMID:27392081|PMID:27813154|PMID:28400893|PMID:28447722|PMID:28492532|PMID:28824526|PMID:28830826|PMID:29050564|PMID:29334134|PMID:29352809|PMID:29453417|PMID:29797489|PMID:30919572|PMID:31319225|PMID:31517061|PMID:31641117|PMID:32017015|PMID:32725257|PMID:34572129|PMID:8696340|PMID:8830774|PMID:8894687|PMID:9536098 12322845 PLEC plectin gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731690 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:10446808|PMID:10652002|PMID:11851880|PMID:12071635|PMID:15206692|PMID:15654962|PMID:15659326|PMID:15810881|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19945614|PMID:20016501|PMID:20052759|PMID:20301336|PMID:20447487|PMID:20665883|PMID:21109228|PMID:21263134|PMID:22854623|PMID:22864774|PMID:23289980|PMID:23757202|PMID:23774525|PMID:24033266|PMID:24253200|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26467025|PMID:27392081|PMID:27813154|PMID:28400893|PMID:28447722|PMID:28492532|PMID:28824526|PMID:28830826|PMID:29050564|PMID:29334134|PMID:29352809|PMID:29453417|PMID:30293987|PMID:30691450|PMID:30919572|PMID:31001817|PMID:31066050|PMID:31230720|PMID:31319225|PMID:31509265|PMID:31513275|PMID:31517061|PMID:31641117|PMID:32017015|PMID:32576226|PMID:32707200|PMID:32725257|PMID:34572129|PMID:8696340|PMID:8830774|PMID:8894687|PMID:9536098|PMID:9886273 12322845 PLEC plectin gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:731690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 PMID:25741868|PMID:26467025|PMID:28492532 12322845 PLEC plectin gene DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q ISO RGD:731690 D RGD:7240710 20180130 OMIM 12322845 PLEC plectin gene DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q ISO RGD:731690 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 PMID:10652002|PMID:11851880|PMID:15206692|PMID:15810881|PMID:17576681|PMID:20301336|PMID:20447487|PMID:21109228|PMID:22854623|PMID:23289980|PMID:23757202|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28447722|PMID:28492532|PMID:28824526|PMID:29453417|PMID:30919572|PMID:31230720|PMID:31319225|PMID:32017015|PMID:34572129|PMID:9536098 12322845 PLEC plectin gene DOID:423 myopathy ISO RGD:731690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868|PMID:28400893 12322845 PLEC plectin gene DOID:4621 holoprosencephaly ISO RGD:731690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12322845 PLEC plectin gene DOID:4644 epidermolysis bullosa simplex IAGP D RGD:12801476 20210603 OMIA Epidermolysis bullosa, simplex, PLEC-related PMID:27878870 12322845 PLEC plectin gene DOID:4644 epidermolysis bullosa simplex ISO RGD:731690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex PMID:11851880|PMID:23289980|PMID:25741868|PMID:28492532 12322845 PLEC plectin gene DOID:630 genetic disease ISO RGD:731690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12322845 PLEC plectin gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:731690 D RGD:7240710 20180130 OMIM 12322845 PLEC plectin gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:731690 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:11851880|PMID:15206692|PMID:15659326|PMID:15810881|PMID:20301336|PMID:20447487|PMID:21109228|PMID:21263134|PMID:22854623|PMID:23289980|PMID:23757202|PMID:24033266|PMID:25712130|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28824526|PMID:28830826|PMID:29453417|PMID:32017015|PMID:32725257 12322845 PLEC plectin gene DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia ISO RGD:731690 D RGD:7240710 20180130 OMIM 12322845 PLEC plectin gene DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia ISO RGD:731690 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5C, with pyloric atresia | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:11851880|PMID:14675180|PMID:15206692|PMID:15654962|PMID:15681471|PMID:15810881|PMID:20301336|PMID:22854623|PMID:23757202|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29453417|PMID:32017015 12322845 PLEC plectin gene DOID:9005992 Rothmund-Thomson Syndrome Type 2 ISO RGD:731690 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 2 PMID:25741868|PMID:28492532 12322919 WDR83 WD repeat domain 83 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1601942 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12322919 WDR83 WD repeat domain 83 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1601942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12322919 WDR83 WD repeat domain 83 gene DOID:0111254 glutaric acidemia I ISO RGD:1601942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12322919 WDR83 WD repeat domain 83 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1601942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:28332277 12322919 WDR83 WD repeat domain 83 gene DOID:3413 alpha-mannosidosis ISO RGD:1601942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:22161967|PMID:28492532|PMID:32331969|PMID:9915946 12322919 WDR83 WD repeat domain 83 gene DOID:630 genetic disease ISO RGD:1601942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322932 MED16 mediator complex subunit 16 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1317518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 12322932 MED16 mediator complex subunit 16 gene DOID:289 endometriosis ISO RGD:1317518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12322932 MED16 mediator complex subunit 16 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1317518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 12322932 MED16 mediator complex subunit 16 gene DOID:5339 cyclic hematopoiesis ISO RGD:1317518 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12322932 MED16 mediator complex subunit 16 gene DOID:630 genetic disease ISO RGD:1317518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322951 PIWIL4 piwi like RNA-mediated gene silencing 4 gene DOID:1059 intellectual disability ISO RGD:1322245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12322951 PIWIL4 piwi like RNA-mediated gene silencing 4 gene DOID:12704 ataxia telangiectasia ISO RGD:1322245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12322951 PIWIL4 piwi like RNA-mediated gene silencing 4 gene DOID:14228 oligospermia ISO RGD:1322245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20940137 12322951 PIWIL4 piwi like RNA-mediated gene silencing 4 gene DOID:630 genetic disease ISO RGD:1322245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322975 DUSP18 dual specificity phosphatase 18 gene DOID:630 genetic disease ISO RGD:1315821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12322992 ZGRF1 zinc finger GRF-type containing 1 gene DOID:0111275 speech-language disorder-1 ISO RGD:1602323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood apraxia of speech PMID:27120335 12322992 ZGRF1 zinc finger GRF-type containing 1 gene DOID:12271 aniridia ISO RGD:1602323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 12322992 ZGRF1 zinc finger GRF-type containing 1 gene DOID:630 genetic disease ISO RGD:1602323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323027 CRYGB crystallin gamma B gene DOID:0110236 cataract 39 multiple types ISO RGD:1347974 D RGD:7240710 20180130 OMIM 12323027 CRYGB crystallin gamma B gene DOID:0110236 cataract 39 multiple types ISO RGD:1347974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 39 multiple types PMID:23288985|PMID:25741868|PMID:28492532 12323027 CRYGB crystallin gamma B gene DOID:14557 primary pulmonary hypertension ISO RGD:1347974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12323027 CRYGB crystallin gamma B gene DOID:630 genetic disease ISO RGD:1347974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12323027 CRYGB crystallin gamma B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12323034 FTSJ3 FtsJ RNA 2'-O-methyltransferase 3 gene DOID:630 genetic disease ISO RGD:1316109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323070 UBE2J2 ubiquitin conjugating enzyme E2 J2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1343973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12323070 UBE2J2 ubiquitin conjugating enzyme E2 J2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1343973 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12323070 UBE2J2 ubiquitin conjugating enzyme E2 J2 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1343973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12323070 UBE2J2 ubiquitin conjugating enzyme E2 J2 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1343973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12323070 UBE2J2 ubiquitin conjugating enzyme E2 J2 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1343973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12323070 UBE2J2 ubiquitin conjugating enzyme E2 J2 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1343973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12323070 UBE2J2 ubiquitin conjugating enzyme E2 J2 gene DOID:0111934 immunodeficiency 38 ISO RGD:1343973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12323070 UBE2J2 ubiquitin conjugating enzyme E2 J2 gene DOID:0111935 immunodeficiency 16 ISO RGD:1343973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12323070 UBE2J2 ubiquitin conjugating enzyme E2 J2 gene DOID:630 genetic disease ISO RGD:1343973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323070 UBE2J2 ubiquitin conjugating enzyme E2 J2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12323070 UBE2J2 ubiquitin conjugating enzyme E2 J2 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1343973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12323070 UBE2J2 ubiquitin conjugating enzyme E2 J2 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1343973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12323115 D2HGDH D-2-hydroxyglutarate dehydrogenase gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:1606344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12323115 D2HGDH D-2-hydroxyglutarate dehydrogenase gene DOID:0050575 D-2-hydroxyglutaric aciduria ISO RGD:1606344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria PMID:18414213|PMID:25741868|PMID:28492532 12323115 D2HGDH D-2-hydroxyglutarate dehydrogenase gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1606344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12323115 D2HGDH D-2-hydroxyglutarate dehydrogenase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1606344 D RGD:7240710 20190918 OMIM 12323115 D2HGDH D-2-hydroxyglutarate dehydrogenase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1606344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:15609246|PMID:16037974|PMID:16081310|PMID:16199547|PMID:16442322|PMID:17576681|PMID:18414213|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:22391998|PMID:24715439|PMID:25741868|PMID:26178471|PMID:28135719|PMID:28492532|PMID:30848064|PMID:30908763|PMID:31488895|PMID:33431826|PMID:7609436|PMID:9536098 12323115 D2HGDH D-2-hydroxyglutarate dehydrogenase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1606344 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12323115 D2HGDH D-2-hydroxyglutarate dehydrogenase gene DOID:1059 intellectual disability ISO RGD:1606344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12323115 D2HGDH D-2-hydroxyglutarate dehydrogenase gene DOID:1826 epilepsy ISO RGD:1606344 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12323115 D2HGDH D-2-hydroxyglutarate dehydrogenase gene DOID:630 genetic disease ISO RGD:1606344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26178471|PMID:28492532|PMID:33431826 12323115 D2HGDH D-2-hydroxyglutarate dehydrogenase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1606344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12323115 D2HGDH D-2-hydroxyglutarate dehydrogenase gene DOID:9252 amino acid metabolic disorder ISO RGD:1606344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15609246 12323130 TMEM222 transmembrane protein 222 gene DOID:630 genetic disease ISO RGD:1604776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323130 TMEM222 transmembrane protein 222 gene DOID:9002095 NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES ISO RGD:1604776 D RGD:7240710 20211027 OMIM 12323130 TMEM222 transmembrane protein 222 gene DOID:9002095 NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES ISO RGD:1604776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities PMID:33824500 12323140 TBC1D10C TBC1 domain family member 10C gene DOID:1059 intellectual disability ISO RGD:1606878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12323140 TBC1D10C TBC1 domain family member 10C gene DOID:630 genetic disease ISO RGD:1606878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323140 TBC1D10C TBC1 domain family member 10C gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1606878 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12323140 TBC1D10C TBC1 domain family member 10C gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1606878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12323161 HINFP histone H4 transcription factor gene DOID:0060017 CD3epsilon deficiency ISO RGD:1603667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12323161 HINFP histone H4 transcription factor gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1603667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12323161 HINFP histone H4 transcription factor gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1603667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:22742743|PMID:28492532 12323161 HINFP histone H4 transcription factor gene DOID:0080690 RASopathy ISO RGD:1603667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 12323161 HINFP histone H4 transcription factor gene DOID:0110651 long QT syndrome 10 ISO RGD:1603667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12323161 HINFP histone H4 transcription factor gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1603667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:22742743|PMID:28492532 12323161 HINFP histone H4 transcription factor gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1603667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12323161 HINFP histone H4 transcription factor gene DOID:0111971 immunodeficiency 18 ISO RGD:1603667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12323161 HINFP histone H4 transcription factor gene DOID:0111972 immunodeficiency 19 ISO RGD:1603667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12323161 HINFP histone H4 transcription factor gene DOID:0111973 immunodeficiency 17 ISO RGD:1603667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12323161 HINFP histone H4 transcription factor gene DOID:5419 schizophrenia ISO RGD:1603667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12323161 HINFP histone H4 transcription factor gene DOID:630 genetic disease ISO RGD:1603667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323161 HINFP histone H4 transcription factor gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12323161 HINFP histone H4 transcription factor gene DOID:9007661 Dwarfism ISO RGD:1603667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12323176 RGS3 regulator of G protein signaling 3 gene DOID:12528 lesion of sciatic nerve ISO RGD:3566 D RGD:9068941 20200609 RGD mRNA:decreased expression:dorsal root ganglion PMID:14550772|REF_RGD_ID:13524539 12323176 RGS3 regulator of G protein signaling 3 gene DOID:365 bladder disease treatment ISO RGD:3566 D RGD:9068941 20200609 RGD associated with hypertension PMID:19689474|REF_RGD_ID:9684972 12323176 RGS3 regulator of G protein signaling 3 gene DOID:630 genetic disease ISO RGD:731031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323176 RGS3 regulator of G protein signaling 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12323230 MSRB1 methionine sulfoxide reductase B1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1312916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 12323230 MSRB1 methionine sulfoxide reductase B1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12323230 MSRB1 methionine sulfoxide reductase B1 gene DOID:1826 epilepsy ISO RGD:1312916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12323230 MSRB1 methionine sulfoxide reductase B1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12323230 MSRB1 methionine sulfoxide reductase B1 gene DOID:630 genetic disease ISO RGD:1312916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323238 LOC611446 leukocyte immunoglobulin-like receptor subfamily A member 6 gene DOID:630 genetic disease ISO RGD:1316283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323264 KLK12 kallikrein related peptidase 12 gene DOID:630 genetic disease ISO RGD:1319061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323273 HORMAD2 HORMA domain containing 2 gene DOID:630 genetic disease ISO RGD:1348799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323288 C5AR2 complement C5a receptor 2 gene DOID:630 genetic disease ISO RGD:1354173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323305 KHK ketohexokinase gene DOID:0111680 essential fructosuria ISO RGD:69145 D RGD:7240710 20180130 OMIM 12323305 KHK ketohexokinase gene DOID:0111680 essential fructosuria ISO RGD:69145 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Essential fructosuria PMID:19237742|PMID:25741868|PMID:28492532|PMID:7833921|PMID:9799106 12323305 KHK ketohexokinase gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:69145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12323305 KHK ketohexokinase gene DOID:2978 carbohydrate metabolic disorder ISO RGD:1621550 D RGD:9068941 20200609 RGD PMID:29534502|REF_RGD_ID:13673909 12323305 KHK ketohexokinase gene DOID:630 genetic disease ISO RGD:69145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323305 KHK ketohexokinase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2966 D RGD:9068941 20200609 RGD PMID:6088170|REF_RGD_ID:2302253 12323305 KHK ketohexokinase gene DOID:9869 hereditary fructose intolerance syndrome treatment ISO RGD:10837 D RGD:9068941 20200609 RGD PMID:29533924|REF_RGD_ID:13673910 12323317 PHF24 PHD finger protein 24 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1342853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12323317 PHF24 PHD finger protein 24 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1342853 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12323317 PHF24 PHD finger protein 24 gene DOID:0080942 anauxetic dysplasia ISO RGD:1342853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12323317 PHF24 PHD finger protein 24 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1342853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12323317 PHF24 PHD finger protein 24 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1342853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12323317 PHF24 PHD finger protein 24 gene DOID:3007 breast ductal carcinoma ISO RGD:1342853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12323317 PHF24 PHD finger protein 24 gene DOID:630 genetic disease ISO RGD:1342853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323317 PHF24 PHD finger protein 24 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1342853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12323317 PHF24 PHD finger protein 24 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1342853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12323317 PHF24 PHD finger protein 24 gene DOID:9870 galactosemia ISO RGD:1342853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12323334 BSPH1 binder of sperm protein homolog 1 gene DOID:630 genetic disease ISO RGD:2306586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323344 SMAGP small cell adhesion glycoprotein gene DOID:630 genetic disease ISO RGD:1607014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323351 OR4C29 olfactory receptor family 4 subfamily C member 29 gene DOID:1059 intellectual disability ISO RGD:1349325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12323351 OR4C29 olfactory receptor family 4 subfamily C member 29 gene DOID:630 genetic disease ISO RGD:1349325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323434 SPDYC speedy/RINGO cell cycle regulator family member C gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12323434 SPDYC speedy/RINGO cell cycle regulator family member C gene DOID:1059 intellectual disability ISO RGD:1606089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12323434 SPDYC speedy/RINGO cell cycle regulator family member C gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12323434 SPDYC speedy/RINGO cell cycle regulator family member C gene DOID:2746 glycogen storage disease V ISO RGD:1606089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12323434 SPDYC speedy/RINGO cell cycle regulator family member C gene DOID:3070 high grade glioma ISO RGD:1606089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12323434 SPDYC speedy/RINGO cell cycle regulator family member C gene DOID:630 genetic disease ISO RGD:1606089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323461 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:0050860 colorectal adenoma ameliorates ISO RGD:1312524 D RGD:9068941 20220204 RGD protein:increased expression:colorectal mucosa (human) PMID:19156145|REF_RGD_ID:151347861 12323461 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1312524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12323461 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:1312524 D RGD:9068941 20220204 RGD protein:increased expression:colorectum (human) PMID:30144500|REF_RGD_ID:151347859 12323461 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:10908 hydrocephalus ISO RGD:1312524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 12323461 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:299 adenocarcinoma ISO RGD:1312524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 12323461 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1312524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12323461 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1312524 D RGD:9068941 20210625 RGD PMID:33532313|REF_RGD_ID:127285652 12323461 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:630 genetic disease ISO RGD:1312524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323461 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1312524 D RGD:9068941 20220204 RGD mRNA, protein:increased expression:liver (human) PMID:32514535|REF_RGD_ID:151347860 12323461 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12323461 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:9002758 Congenital Hydrocephalus 5 ISO RGD:1312524 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hydrocephalus, congenital, 5, susceptibility to PMID:29983323|PMID:33077954 12323461 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:9002758 Congenital Hydrocephalus 5 susceptibility ISO RGD:1312524 D RGD:7240710 20230505 OMIM 12323461 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1312524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12323461 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1312524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 12323461 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:9006205 Animal Disease Models ISO RGD:1312524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12323461 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:9008840 DNA Repair-Deficiency Disorders ISO RGD:1312524 D RGD:9068941 20220204 RGD associated with gastric carcinoma;protein:decreased expression:stomach (human) PMID:31922331|REF_RGD_ID:126848759 12323461 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:9256 colorectal cancer ISO RGD:1312524 D RGD:9068941 20220204 RGD RNA:increased expression:colorectum (human) PMID:32606978|REF_RGD_ID:151347862 12323498 WARS1 tryptophanyl-tRNA synthetase 1 gene DOID:0111212 distal hereditary motor neuronopathy type 9 ISO RGD:1317961 D RGD:7240710 20190315 OMIM 12323498 WARS1 tryptophanyl-tRNA synthetase 1 gene DOID:0111212 distal hereditary motor neuronopathy type 9 ISO RGD:1317961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 9 PMID:25741868|PMID:28369220|PMID:31069783|PMID:31321409 12323498 WARS1 tryptophanyl-tRNA synthetase 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1317961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12323498 WARS1 tryptophanyl-tRNA synthetase 1 gene DOID:5419 schizophrenia ISO RGD:1317961 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12323498 WARS1 tryptophanyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1317961 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:35790048 12323498 WARS1 tryptophanyl-tRNA synthetase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1317961 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:36937954 12323524 MAB21L3 mab-21 like 3 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1602303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 12323524 MAB21L3 mab-21 like 3 gene DOID:630 genetic disease ISO RGD:1602303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323538 ZNF32 zinc finger protein 32 gene DOID:630 genetic disease ISO RGD:1350572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323558 IHH Indian hedgehog signaling molecule gene DOID:0050424 familial adenomatous polyposis ISO RGD:1350368 D RGD:9068941 20200609 RGD PMID:25307863|REF_RGD_ID:11528847 12323558 IHH Indian hedgehog signaling molecule gene DOID:0050424 familial adenomatous polyposis ISO RGD:1552237 D RGD:9068941 20200609 RGD PMID:25307863|REF_RGD_ID:11528847 12323558 IHH Indian hedgehog signaling molecule gene DOID:0050581 brachydactyly ISO RGD:1350368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly 12323558 IHH Indian hedgehog signaling molecule gene DOID:0050604 acrocapitofemoral dysplasia ISO RGD:1350368 D RGD:7240710 20180130 OMIM 12323558 IHH Indian hedgehog signaling molecule gene DOID:0050604 acrocapitofemoral dysplasia ISO RGD:1350368 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acrocapitofemoral dysplasia PMID:12624140|PMID:12632327|PMID:25741868|PMID:28492532|PMID:34530144 12323558 IHH Indian hedgehog signaling molecule gene DOID:0060041 autism spectrum disorder ISO RGD:1350368 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:26691363|REF_RGD_ID:11561296 12323558 IHH Indian hedgehog signaling molecule gene DOID:0060850 annular pancreas ISO RGD:1552237 D RGD:9068941 20220825 MouseDO OMIM:167750 12323558 IHH Indian hedgehog signaling molecule gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1350368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12323558 IHH Indian hedgehog signaling molecule gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1350368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12323558 IHH Indian hedgehog signaling molecule gene DOID:0110964 brachydactyly type A1 ISO RGD:1350368 D RGD:7240710 20180130 OMIM 12323558 IHH Indian hedgehog signaling molecule gene DOID:0110964 brachydactyly type A1 ISO RGD:1350368 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Brachydactyly Farabee type | ClinVar Annotator: match by term: Brachydactyly type A1 PMID:11455389|PMID:12384778|PMID:12525541|PMID:12566523|PMID:14043746|PMID:15886999|PMID:16871364|PMID:17486609|PMID:18794898|PMID:19252479|PMID:19277064|PMID:25741868|PMID:28492532 12323558 IHH Indian hedgehog signaling molecule gene DOID:0111816 syndactyly type 1 ISO RGD:1350368 D RGD:9068941 20200609 RGD DNA:duplications PMID:21167467|REF_RGD_ID:12910956 12323558 IHH Indian hedgehog signaling molecule gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1350368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12323558 IHH Indian hedgehog signaling molecule gene DOID:10487 Hirschsprung's disease ISO RGD:1350368 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 12323558 IHH Indian hedgehog signaling molecule gene DOID:13025 retinopathy of prematurity ISO RGD:1350368 D RGD:9068941 20200609 RGD DNA:SNP PMID:18787502|REF_RGD_ID:12910978 12323558 IHH Indian hedgehog signaling molecule gene DOID:2602 chondroma ISO RGD:1552237 D RGD:9068941 20200609 RGD PMID:26091072|REF_RGD_ID:12910968 12323558 IHH Indian hedgehog signaling molecule gene DOID:289 endometriosis ISO RGD:1350368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12323558 IHH Indian hedgehog signaling molecule gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1350368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12323558 IHH Indian hedgehog signaling molecule gene DOID:5119 ovarian cyst ISO RGD:1350368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12323558 IHH Indian hedgehog signaling molecule gene DOID:630 genetic disease ISO RGD:1350368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12323558 IHH Indian hedgehog signaling molecule gene DOID:8398 osteoarthritis ISO RGD:1350368 D RGD:9068941 20200609 RGD protein:increased expression:cartilage PMID:24786088|REF_RGD_ID:12910979 12323558 IHH Indian hedgehog signaling molecule gene DOID:8398 osteoarthritis ISO RGD:1552237 D RGD:9068941 20200609 RGD PMID:24786088|REF_RGD_ID:12910979 12323558 IHH Indian hedgehog signaling molecule gene DOID:8398 osteoarthritis ISO RGD:620021 D RGD:9068941 20200609 RGD PMID:24786088|REF_RGD_ID:12910979 12323558 IHH Indian hedgehog signaling molecule gene DOID:9002869 Schistosomiasis Mansoni ISO RGD:1350368 D RGD:9068941 20200609 RGD PMID:23121638|REF_RGD_ID:12910981 12323558 IHH Indian hedgehog signaling molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12323558 IHH Indian hedgehog signaling molecule gene DOID:9005639 Mandibular Fractures ISO RGD:620021 D RGD:9068941 20200609 RGD PMID:23992905|REF_RGD_ID:12911207 12323558 IHH Indian hedgehog signaling molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12323565 ZZZ3 zinc finger ZZ-type containing 3 gene DOID:4905 pancreatic carcinoma ISO RGD:1351388 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34686948 12323565 ZZZ3 zinc finger ZZ-type containing 3 gene DOID:630 genetic disease ISO RGD:1351388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323589 STAC2 SH3 and cysteine rich domain 2 gene DOID:630 genetic disease ISO RGD:1313639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323589 STAC2 SH3 and cysteine rich domain 2 gene DOID:9002189 High Myopia ISO RGD:1313639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12323589 STAC2 SH3 and cysteine rich domain 2 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1313639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 12323605 H2BC17 H2B clustered histone 17 gene DOID:630 genetic disease ISO RGD:1343166 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323612 FAM174A family with sequence similarity 174 member A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601696 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12323612 FAM174A family with sequence similarity 174 member A gene DOID:630 genetic disease ISO RGD:1601696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323612 FAM174A family with sequence similarity 174 member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12323612 FAM174A family with sequence similarity 174 member A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12323612 FAM174A family with sequence similarity 174 member A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601696 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12323621 RRH retinal pigment epithelium-derived rhodopsin homolog gene DOID:630 genetic disease ISO RGD:1319017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323677 KIAA1522 KIAA1522 ortholog gene DOID:630 genetic disease ISO RGD:1602871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323677 KIAA1522 KIAA1522 ortholog gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1561149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12323689 ARHGEF26 Rho guanine nucleotide exchange factor 26 gene DOID:630 genetic disease ISO RGD:1603402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323707 MT-CO1 mitochondrially encoded cytochrome c oxidase I gene DOID:0050700 cardiomyopathy ISO RGD:1343025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14568902 12323707 MT-CO1 mitochondrially encoded cytochrome c oxidase I gene DOID:0080855 Parkinsonism ISO RGD:621871 D RGD:9068941 20200609 RGD mRNA:decreased expression:thalamus PMID:17148469|REF_RGD_ID:2302296 12323707 MT-CO1 mitochondrially encoded cytochrome c oxidase I gene DOID:0111505 palmoplantar keratoderma-deafness syndrome ISO RGD:1343025 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome PMID:11069477|PMID:11175301|PMID:127819|PMID:20301595|PMID:31965079|PMID:32906214|PMID:6213205|PMID:7219534|PMID:7987332|PMID:8019558|PMID:8572257|PMID:9450881|PMID:9742104 12323707 MT-CO1 mitochondrially encoded cytochrome c oxidase I gene DOID:0111734 aminoglycoside-induced deafness ISO RGD:1343025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY PMID:10577941|PMID:1322638|PMID:16152638|PMID:1634041|PMID:1732158|PMID:17659260|PMID:20301595|PMID:25741868|PMID:8060346|PMID:8240356|PMID:8680405|PMID:9742104 12323707 MT-CO1 mitochondrially encoded cytochrome c oxidase I gene DOID:0111751 mitochondrial nonsyndromic sensorineural deafness ISO RGD:1343025 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, nonsyndromic sensorineural, mitochondrial PMID:10577941|PMID:11069477|PMID:11175301|PMID:127819|PMID:1322638|PMID:16152638|PMID:1634041|PMID:1732158|PMID:17659260|PMID:18639500|PMID:20301595|PMID:25741868|PMID:31965079|PMID:32906214|PMID:6213205|PMID:7219534|PMID:7987332|PMID:8019558|PMID:8060346|PMID:8240356|PMID:8572257|PMID:8680405|PMID:9450881|PMID:9742104 12323707 MT-CO1 mitochondrially encoded cytochrome c oxidase I gene DOID:0111752 autosomal-mitochondrial sensorineural deafness ISO RGD:1343025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12323707 MT-CO1 mitochondrially encoded cytochrome c oxidase I gene DOID:12930 dilated cardiomyopathy ISO RGD:1343025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24088041|PMID:26633545 12323707 MT-CO1 mitochondrially encoded cytochrome c oxidase I gene DOID:14791 Leber congenital amaurosis ISO RGD:1343025 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leber's disease PMID:10577941|PMID:1322638|PMID:16152638|PMID:1634041|PMID:1732158|PMID:17659260|PMID:20301595|PMID:25741868|PMID:8060346|PMID:8240356|PMID:8680405|PMID:9742104 12323707 MT-CO1 mitochondrially encoded cytochrome c oxidase I gene DOID:305 carcinoma ISO RGD:1343025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12323707 MT-CO1 mitochondrially encoded cytochrome c oxidase I gene DOID:3652 Leigh disease ISO RGD:1343025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:10577941|PMID:11349229|PMID:12140182|PMID:1322638|PMID:13298683|PMID:15647368|PMID:16152638|PMID:1634041|PMID:1732158|PMID:17659260|PMID:19460299|PMID:20301595|PMID:21419139|PMID:22130971|PMID:22949535|PMID:24498190|PMID:24713204|PMID:25701779|PMID:25741868|PMID:26011537|PMID:26428318|PMID:26467025|PMID:30950284|PMID:8060346|PMID:8240356|PMID:8680405|PMID:9742104|PMID:9806551|PMID:9832034 12323707 MT-CO1 mitochondrially encoded cytochrome c oxidase I gene DOID:3687 MELAS syndrome ISO RGD:1343025 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes PMID:11069477|PMID:11175301|PMID:127819|PMID:20301595|PMID:31965079|PMID:32906214|PMID:6213205|PMID:7219534|PMID:7987332|PMID:8019558|PMID:8572257|PMID:9450881|PMID:9742104 12323707 MT-CO1 mitochondrially encoded cytochrome c oxidase I gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1343025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cytochrome c oxidase I deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:10441567|PMID:12140182|PMID:16284789|PMID:9832034 12323707 MT-CO1 mitochondrially encoded cytochrome c oxidase I gene DOID:539 ophthalmoplegia ISO RGD:1343025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: External ophthalmoplegia 12323707 MT-CO1 mitochondrially encoded cytochrome c oxidase I gene DOID:5723 optic atrophy ISO RGD:1343025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:28027978 12323707 MT-CO1 mitochondrially encoded cytochrome c oxidase I gene DOID:6419 tetralogy of Fallot ISO RGD:1343025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot 12323707 MT-CO1 mitochondrially encoded cytochrome c oxidase I gene DOID:684 hepatocellular carcinoma ISO RGD:621871 D RGD:9068941 20200609 RGD PMID:2548155|REF_RGD_ID:2302301 12323707 MT-CO1 mitochondrially encoded cytochrome c oxidase I gene DOID:700 mitochondrial metabolism disease ISO RGD:1343025 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder PMID:11069477|PMID:11175301|PMID:127819|PMID:20301595|PMID:31965079|PMID:32906214|PMID:6213205|PMID:7219534|PMID:7987332|PMID:8019558|PMID:8572257|PMID:9450881|PMID:9742104 12323707 MT-CO1 mitochondrially encoded cytochrome c oxidase I gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1343025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber's optic atrophy PMID:10577941|PMID:1322638|PMID:16152638|PMID:1634041|PMID:1732158|PMID:17659260|PMID:20301595|PMID:25741868|PMID:8060346|PMID:8240356|PMID:8680405|PMID:9742104 12323707 MT-CO1 mitochondrially encoded cytochrome c oxidase I gene DOID:8955 sideroblastic anemia ISO RGD:1343025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acquired idiopathic sideroblastic anemia PMID:9389715 12323707 MT-CO1 mitochondrially encoded cytochrome c oxidase I gene DOID:9000040 Hypertrophy ISO RGD:1343025 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20582486 12323707 MT-CO1 mitochondrially encoded cytochrome c oxidase I gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1343025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12323707 MT-CO1 mitochondrially encoded cytochrome c oxidase I gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1343025 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:10577941|PMID:1322638|PMID:16152638|PMID:1634041|PMID:1732158|PMID:17659260|PMID:20301595|PMID:25741868|PMID:8060346|PMID:8240356|PMID:8680405|PMID:9742104 12323707 MT-CO1 mitochondrially encoded cytochrome c oxidase I gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1343025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12323707 MT-CO1 mitochondrially encoded cytochrome c oxidase I gene DOID:9007527 Mitochondrial Myopathy, Infantile, Transient ISO RGD:1343025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient 12323707 MT-CO1 mitochondrially encoded cytochrome c oxidase I gene DOID:9008091 Optic Nerve Injuries ISO RGD:736621 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:12076086|REF_RGD_ID:8662362 12323707 MT-CO1 mitochondrially encoded cytochrome c oxidase I gene DOID:9008229 Recurrent Myoglobinuria ISO RGD:1343025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myoglobinuria, recurrent PMID:10980727 12323707 MT-CO1 mitochondrially encoded cytochrome c oxidase I gene DOID:9256 colorectal cancer ISO RGD:1343025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:13298683|PMID:16407113|PMID:19218458|PMID:9806551 12323711 LACTBL1 lactamase beta like 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:3077861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12323785 CALCB calcitonin-related polypeptide beta gene DOID:1059 intellectual disability ISO RGD:1350431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12323785 CALCB calcitonin-related polypeptide beta gene DOID:630 genetic disease ISO RGD:1350431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323785 CALCB calcitonin-related polypeptide beta gene DOID:6364 migraine ISO RGD:1350431 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:35115687 12323800 ACP2 acid phosphatase 2, lysosomal gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:10071 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12323800 ACP2 acid phosphatase 2, lysosomal gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:10071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 12323800 ACP2 acid phosphatase 2, lysosomal gene DOID:1059 intellectual disability ISO RGD:10071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12323800 ACP2 acid phosphatase 2, lysosomal gene DOID:11832 visual epilepsy ISO RGD:10070 D RGD:9068941 20200609 RGD PMID:9228031|REF_RGD_ID:1300245 12323800 ACP2 acid phosphatase 2, lysosomal gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:10071 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12323800 ACP2 acid phosphatase 2, lysosomal gene DOID:630 genetic disease ISO RGD:10071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323800 ACP2 acid phosphatase 2, lysosomal gene DOID:9006216 Acid Phosphatase Deficiency ISO RGD:10071 D RGD:7240710 20180130 OMIM 12323815 ACVR2A activin A receptor type 2A gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:731811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:21981781|PMID:23632792 12323815 ACVR2A activin A receptor type 2A gene DOID:1793 pancreatic cancer ISO RGD:731811 D RGD:9068941 20200609 RGD PMID:9714055|REF_RGD_ID:2317217 12323815 ACVR2A activin A receptor type 2A gene DOID:219 colon cancer ISO RGD:731811 D RGD:9068941 20200609 RGD DNA:mutation:polyadenine tract PMID:14988818|REF_RGD_ID:2301065 12323815 ACVR2A activin A receptor type 2A gene DOID:3883 Lynch syndrome ISO RGD:731811 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 12323815 ACVR2A activin A receptor type 2A gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1550139 D RGD:9068941 20220825 MouseDO OMIM:261800 12323815 ACVR2A activin A receptor type 2A gene DOID:630 genetic disease ISO RGD:731811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323815 ACVR2A activin A receptor type 2A gene DOID:9000027 Microsatellite Instability ISO RGD:731811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 12323815 ACVR2A activin A receptor type 2A gene DOID:9000965 Neoplasm Metastasis exacerbates ISO RGD:731811 D RGD:9068941 20220224 RGD associated with colon cancer;mRNA,protein:decreased expression:colon (human) PMID:30310521|REF_RGD_ID:151361136 12323815 ACVR2A activin A receptor type 2A gene DOID:9002304 Prostatic Neoplasms ISO RGD:731811 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16337854|REF_RGD_ID:2301061 12323815 ACVR2A activin A receptor type 2A gene DOID:9008763 Femoral Fractures ISO RGD:70911 D RGD:9068941 20200609 RGD PMID:9076583|REF_RGD_ID:2325239 12323834 FAM184A family with sequence similarity 184 member A gene DOID:1059 intellectual disability ISO RGD:1322675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 12323834 FAM184A family with sequence similarity 184 member A gene DOID:10907 microcephaly ISO RGD:1322675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 12323834 FAM184A family with sequence similarity 184 member A gene DOID:12849 autistic disorder ISO RGD:1322675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 12323834 FAM184A family with sequence similarity 184 member A gene DOID:1826 epilepsy ISO RGD:1322675 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12323834 FAM184A family with sequence similarity 184 member A gene DOID:303 substance-related disorder ISO RGD:1322675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12323834 FAM184A family with sequence similarity 184 member A gene DOID:630 genetic disease ISO RGD:1322675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323834 FAM184A family with sequence similarity 184 member A gene DOID:9000495 Tremor ISO RGD:1322675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12323877 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:0050436 mulibrey nanism ISO RGD:1312585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Perheentupa syndrome PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32439617|PMID:34438093|PMID:35146895 12323877 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:0050675 Birk-Barel syndrome ISO RGD:1312585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mental retardation with hypotonia and facial dysmorphism PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32439617|PMID:34438093|PMID:35146895 12323877 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1312585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32439617|PMID:34438093|PMID:35146895 12323877 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:10283 prostate cancer ISO RGD:1312585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12323877 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:1059 intellectual disability ISO RGD:1312585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32439617|PMID:34438093|PMID:35146895 12323877 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:10629 microphthalmia ISO RGD:1312586 D RGD:9068941 20220825 MouseDO 12323877 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:1826 epilepsy ISO RGD:1312585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32439617|PMID:34438093|PMID:35146895 12323877 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:630 genetic disease ISO RGD:1312585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323877 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:670 amphetamine abuse ISO RGD:1312585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12323877 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:83 cataract ISO RGD:1312586 D RGD:9068941 20220825 MouseDO OMIM:601371 12323877 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:9001283 RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT ISO RGD:1312585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy and iris coloboma with or without congenital cataract PMID:26056285|PMID:28492532 12323877 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312585 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:31278393|PMID:32427099 12323877 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:9006366 Cataract 50 with or without Glaucoma ISO RGD:1312585 D RGD:7240710 20230505 OMIM 12323877 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:9006366 Cataract 50 with or without Glaucoma ISO RGD:1312585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cataract 50 with or without glaucoma PMID:25090642 12323877 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1312585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32439617|PMID:34438093|PMID:35146895 12323877 TRPM3 transient receptor potential cation channel subfamily M member 3 gene DOID:9008582 Developmental Disease ISO RGD:1312585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12323923 LOC478000 phytanoyl-CoA hydroxylase-like gene DOID:0050567 orofacial cleft ISO RGD:731796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic cleft lip palate PMID:10767344|PMID:14974078|PMID:16186124|PMID:25741868|PMID:27229527|PMID:28492532 12323923 LOC478000 phytanoyl-CoA hydroxylase-like gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:731796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12323923 LOC478000 phytanoyl-CoA hydroxylase-like gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:620317 D RGD:9068941 20200609 RGD PMID:29031784|REF_RGD_ID:13831310 12323923 LOC478000 phytanoyl-CoA hydroxylase-like gene DOID:0080884 vitamin D-dependent rickets type 2A ISO RGD:731796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL PMID:10767344|PMID:14974078|PMID:16186124|PMID:25741868|PMID:27229527|PMID:28492532 12323923 LOC478000 phytanoyl-CoA hydroxylase-like gene DOID:10582 Refsum disease ISO RGD:731796 D RGD:7240710 20180130 OMIM 12323923 LOC478000 phytanoyl-CoA hydroxylase-like gene DOID:10582 Refsum disease ISO RGD:731796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phytanic acid oxidase deficiency | ClinVar Annotator: match by term: Phytanic acid storage disease | ClinVar Annotator: match by term: Refsum syndrome PMID:10767344|PMID:11555634|PMID:1155634|PMID:11948235|PMID:14974078|PMID:16186124|PMID:16199547|PMID:17576681|PMID:17905308|PMID:18612766|PMID:20818383|PMID:24033266|PMID:25472526|PMID:25525159|PMID:25741868|PMID:27229527|PMID:28041643|PMID:28470644|PMID:28492532|PMID:28681609|PMID:31240149|PMID:31456290|PMID:9326939|PMID:9326940|PMID:9536098|PMID:9657395 12323923 LOC478000 phytanoyl-CoA hydroxylase-like gene DOID:10584 retinitis pigmentosa ISO RGD:731796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10767344|PMID:11555634|PMID:1155634|PMID:11948235|PMID:14974078|PMID:17905308|PMID:18612766|PMID:20818383|PMID:25525159|PMID:25741868|PMID:28041643|PMID:28470644|PMID:28492532|PMID:28681609|PMID:31240149|PMID:9326939|PMID:9326940|PMID:9657395 12323923 LOC478000 phytanoyl-CoA hydroxylase-like gene DOID:630 genetic disease ISO RGD:731796 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10767344|PMID:11555634|PMID:1155634|PMID:14974078|PMID:25741868|PMID:28041643|PMID:28492532|PMID:9326939|PMID:9657395 12323923 LOC478000 phytanoyl-CoA hydroxylase-like gene DOID:8501 fundus dystrophy ISO RGD:731796 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10767344|PMID:11555634|PMID:14974078|PMID:16199547|PMID:20818383|PMID:25741868|PMID:28041643|PMID:28492532|PMID:9326940 12323923 LOC478000 phytanoyl-CoA hydroxylase-like gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:731796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS PMID:10767344|PMID:14974078|PMID:16186124|PMID:25741868|PMID:27229527|PMID:28492532 12323923 LOC478000 phytanoyl-CoA hydroxylase-like gene DOID:9003094 Adult Refsum Disease, 1 ISO RGD:731796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Refsum disease, adult, 1 PMID:10767344|PMID:11555634|PMID:1155634|PMID:11948235|PMID:14974078|PMID:17905308|PMID:18612766|PMID:2433405|PMID:25525159|PMID:25741868|PMID:28041643|PMID:28470644|PMID:28492532|PMID:28681609|PMID:31240149|PMID:9326939|PMID:9326940|PMID:9657395 12323923 LOC478000 phytanoyl-CoA hydroxylase-like gene DOID:9007505 Familial Hypophosphatemic Rickets ISO RGD:731796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT PMID:10767344|PMID:14974078|PMID:16186124|PMID:25741868|PMID:27229527|PMID:28492532 12323923 LOC478000 phytanoyl-CoA hydroxylase-like gene DOID:905 Zellweger syndrome ISO RGD:731796 D RGD:9068941 20200609 RGD PMID:10709665|PMID:8954107|REF_RGD_ID:13831312|REF_RGD_ID:13831337 12323923 LOC478000 phytanoyl-CoA hydroxylase-like gene DOID:906 peroxisomal disease ISO RGD:731796 D RGD:9068941 20200609 RGD PMID:9266377|REF_RGD_ID:13831311 12323936 CCZ1 CCZ1 homolog, vacuolar protein trafficking and biogenesis associated gene DOID:0070271 Lynch syndrome 1 ISO RGD:1315007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:36647049 12323936 CCZ1 CCZ1 homolog, vacuolar protein trafficking and biogenesis associated gene DOID:3883 Lynch syndrome ISO RGD:1315007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:10037723|PMID:16338176|PMID:20533529|PMID:21618646|PMID:24440087|PMID:26318770|PMID:28492532 12323936 CCZ1 CCZ1 homolog, vacuolar protein trafficking and biogenesis associated gene DOID:630 genetic disease ISO RGD:1315007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12323959 ATL1 atlastin GTPase 1 gene DOID:0070156 hereditary sensory neuropathy type 1D ISO RGD:1352093 D RGD:7240710 20180130 OMIM 12323959 ATL1 atlastin GTPase 1 gene DOID:0070156 hereditary sensory neuropathy type 1D ISO RGD:1352093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type 1D PMID:20862796|PMID:21194679|PMID:25741868|PMID:26467025|PMID:28492532 12323959 ATL1 atlastin GTPase 1 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1352093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant PMID:28492532 12323959 ATL1 atlastin GTPase 1 gene DOID:0110791 hereditary spastic paraplegia 3A ISO RGD:1352093 D RGD:7240710 20180130 OMIM 12323959 ATL1 atlastin GTPase 1 gene DOID:0110791 hereditary spastic paraplegia 3A ISO RGD:1352093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A PMID:11685207|PMID:12112092|PMID:12499504|PMID:12939451|PMID:14506257|PMID:14607301|PMID:14695538|PMID:15184642|PMID:15477516|PMID:15517445|PMID:15596607|PMID:15742100|PMID:16401858|PMID:16533974|PMID:16537571|PMID:16612642|PMID:17285536|PMID:17321752|PMID:17427918|PMID:17502470|PMID:17531128|PMID:17576681|PMID:17992088|PMID:19423133|PMID:19459885|PMID:19652243|PMID:19735987|PMID:19768483|PMID:20718791|PMID:20816793|PMID:20862796|PMID:20932283|PMID:20947813|PMID:21194679|PMID:21220294|PMID:21321493|PMID:21336785|PMID:21368113|PMID:2255281|PMID:22552817|PMID:22581552|PMID:23079343|PMID:23108492|PMID:23233086|PMID:23334294|PMID:23400676|PMID:23483706|PMID:23684613|PMID:23999326|PMID:24417445|PMID:24451228|PMID:24473461|PMID:24482476|PMID:24604904|PMID:24969372|PMID:25193411|PMID:25326635|PMID:25341883|PMID:25637064|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25761634|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26633542|PMID:26671083|PMID:26888483|PMID:27993330|PMID:28240257|PMID:28396731|PMID:28492532|PMID:28736820|PMID:29180453|PMID:29691679|PMID:29907907|PMID:29934652|PMID:29980238|PMID:30008475|PMID:30666337|PMID:30773365|PMID:30780198|PMID:31227335|PMID:31236401|PMID:31594988|PMID:31630374|PMID:31920481|PMID:32322428|PMID:32488064|PMID:32581362|PMID:32860008|PMID:32989326|PMID:34546351|PMID:34808209|PMID:4684346|PMID:8252041|PMID:9341882|PMID:9536098 12323959 ATL1 atlastin GTPase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1352093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:21194679|PMID:25741868 12323959 ATL1 atlastin GTPase 1 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1352093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:25741868 12323959 ATL1 atlastin GTPase 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1352093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:11685207|PMID:14607301|PMID:15517445|PMID:15596607|PMID:15742100|PMID:16401858|PMID:16537571|PMID:16612642|PMID:17285536|PMID:17321752|PMID:17427918|PMID:17502470|PMID:19423133|PMID:19652243|PMID:20718791|PMID:20816793|PMID:20862796|PMID:20932283|PMID:20947813|PMID:21336785|PMID:22581552|PMID:23079343|PMID:23233086|PMID:23334294|PMID:23400676|PMID:24473461|PMID:24482476|PMID:24604904|PMID:25341883|PMID:25637064|PMID:25741868|PMID:25761634|PMID:26208798|PMID:26374131|PMID:26467025|PMID:28492532|PMID:29934652|PMID:29980238|PMID:30780198|PMID:31227335|PMID:31630374|PMID:31920481|PMID:32322428|PMID:32581362|PMID:34546351|PMID:34808209|PMID:8252041 12323959 ATL1 atlastin GTPase 1 gene DOID:607 paraplegia ISO RGD:1352093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:11685207|PMID:14607301|PMID:15517445|PMID:16537571|PMID:16612642|PMID:17321752|PMID:19459885|PMID:19652243|PMID:20718791|PMID:20816793|PMID:20862796|PMID:20932283|PMID:20947813|PMID:23079343|PMID:23233086|PMID:24482476|PMID:25637064|PMID:25741868|PMID:25761634|PMID:26467025|PMID:27993330|PMID:28492532|PMID:32581362|PMID:8252041 12323959 ATL1 atlastin GTPase 1 gene DOID:630 genetic disease ISO RGD:1352093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15184642|PMID:15596607|PMID:15742100|PMID:16401858|PMID:17321752|PMID:17502470|PMID:17576681|PMID:19423133|PMID:19459885|PMID:19768483|PMID:20718791|PMID:20816793|PMID:20862796|PMID:20932283|PMID:21194679|PMID:21336785|PMID:22581552|PMID:23079343|PMID:23334294|PMID:23400676|PMID:23483706|PMID:24417445|PMID:24451228|PMID:25341883|PMID:25741868|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26633542|PMID:26671083|PMID:28492532|PMID:29934652|PMID:29980238|PMID:30780198|PMID:31227335|PMID:31630374|PMID:31920481|PMID:32322428|PMID:34546351|PMID:34808209|PMID:4684346|PMID:9536098 12323959 ATL1 atlastin GTPase 1 gene DOID:9000704 Lingual Thyroids ISO RGD:1352093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lingual thyroid PMID:32989326 12323959 ATL1 atlastin GTPase 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1352093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12323985 SMS spermine synthase gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1345734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis syndrome PMID:25741868 12323985 SMS spermine synthase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12323985 SMS spermine synthase gene DOID:0060802 syndromic X-linked intellectual disability Snyder type ISO RGD:1345734 D RGD:7240710 20180130 OMIM 12323985 SMS spermine synthase gene DOID:0060802 syndromic X-linked intellectual disability Snyder type ISO RGD:1345734 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SMS-Related Disorder | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Snyder type PMID:14508504|PMID:18550699|PMID:19206178|PMID:19377476|PMID:22612257|PMID:23696453|PMID:23805436|PMID:23897707|PMID:25741868|PMID:25888122|PMID:26174906|PMID:26467025|PMID:26761001|PMID:28492532|PMID:31580924|PMID:33624935|PMID:34177437|PMID:5823961 12323985 SMS spermine synthase gene DOID:1059 intellectual disability ISO RGD:1345734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12323985 SMS spermine synthase gene DOID:12849 autistic disorder ISO RGD:1345734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12323985 SMS spermine synthase gene DOID:630 genetic disease ISO RGD:1345734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19377476|PMID:23805436|PMID:25741868|PMID:25936994|PMID:26467025|PMID:26761001|PMID:28492532|PMID:34177437 12323985 SMS spermine synthase gene DOID:7148 rheumatoid arthritis ISO RGD:1345734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 12323985 SMS spermine synthase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12323985 SMS spermine synthase gene DOID:9008582 Developmental Disease ISO RGD:1345734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12324006 SH3RF3 SH3 domain containing ring finger 3 gene DOID:630 genetic disease ISO RGD:1344960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324006 SH3RF3 SH3 domain containing ring finger 3 gene DOID:670 amphetamine abuse ISO RGD:1344960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12324020 GJA5 gap junction protein alpha 5 gene DOID:0050650 familial atrial fibrillation ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation PMID:12522116|PMID:28492532 12324020 GJA5 gap junction protein alpha 5 gene DOID:0060041 autism spectrum disorder ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 12324020 GJA5 gap junction protein alpha 5 gene DOID:0060224 atrial fibrillation ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, somatic PMID:16790700 12324020 GJA5 gap junction protein alpha 5 gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome PMID:25741868|PMID:28492532 12324020 GJA5 gap junction protein alpha 5 gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:736164 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 12324020 GJA5 gap junction protein alpha 5 gene DOID:0070355 overactive bladder syndrome ISO RGD:2692 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:17855776|REF_RGD_ID:7207474 12324020 GJA5 gap junction protein alpha 5 gene DOID:0080662 atrial standstill 1 ISO RGD:736164 D RGD:7240710 20180130 OMIM 12324020 GJA5 gap junction protein alpha 5 gene DOID:0080662 atrial standstill 1 ISO RGD:736164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial standstill 1 PMID:16790700|PMID:21921585|PMID:22199024|PMID:22713807|PMID:22912587|PMID:23348765|PMID:24060583|PMID:24144883|PMID:25205790|PMID:25741868|PMID:26137477|PMID:26279651|PMID:26503720|PMID:27930557|PMID:28074886|PMID:28398664|PMID:28457700|PMID:28492532|PMID:30847666|PMID:9588401 12324020 GJA5 gap junction protein alpha 5 gene DOID:0110231 cataract 1 multiple types ISO RGD:736164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 1 multiple types PMID:17601931|PMID:23720739|PMID:23772370|PMID:28492532 12324020 GJA5 gap junction protein alpha 5 gene DOID:10763 hypertension ISO RGD:2692 D RGD:9068941 20200609 RGD protein:decreased expression:artery endothelium PMID:11821709|REF_RGD_ID:7207848 12324020 GJA5 gap junction protein alpha 5 gene DOID:10763 hypertension ISO RGD:736164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19109587 12324020 GJA5 gap junction protein alpha 5 gene DOID:10763 hypertension treatment ISO RGD:2692 D RGD:9068941 20200609 RGD PMID:19686729|REF_RGD_ID:7207417 12324020 GJA5 gap junction protein alpha 5 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12324020 GJA5 gap junction protein alpha 5 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:736164 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:25741868|PMID:28492532 12324020 GJA5 gap junction protein alpha 5 gene DOID:1540 parathyroid carcinoma ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12324020 GJA5 gap junction protein alpha 5 gene DOID:1591 renovascular hypertension ISO RGD:2692 D RGD:9068941 20200609 RGD PMID:11422751|REF_RGD_ID:7207851 12324020 GJA5 gap junction protein alpha 5 gene DOID:2921 glomerulonephritis ISO RGD:2692 D RGD:9068941 20200609 RGD PMID:22945766|REF_RGD_ID:7207390 12324020 GJA5 gap junction protein alpha 5 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 12324020 GJA5 gap junction protein alpha 5 gene DOID:5199 ureteral obstruction ISO RGD:2692 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:12644912|REF_RGD_ID:7207847 12324020 GJA5 gap junction protein alpha 5 gene DOID:5419 schizophrenia ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12324020 GJA5 gap junction protein alpha 5 gene DOID:5844 myocardial infarction treatment ISO RGD:2692 D RGD:9068941 20200609 RGD PMID:29428663|REF_RGD_ID:13592597 12324020 GJA5 gap junction protein alpha 5 gene DOID:630 genetic disease ISO RGD:736164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12324020 GJA5 gap junction protein alpha 5 gene DOID:6419 tetralogy of Fallot ISO RGD:736164 D RGD:9068941 20200609 RGD DNA:duplications PMID:22199024|REF_RGD_ID:7207464 12324020 GJA5 gap junction protein alpha 5 gene DOID:6419 tetralogy of Fallot ISO RGD:736165 D RGD:9068941 20220825 MouseDO OMIM:187500 12324020 GJA5 gap junction protein alpha 5 gene DOID:9000998 Brain Injuries ISO RGD:2692 D RGD:9068941 20200609 RGD protein:increased expression:cerebral artery PMID:21895483|REF_RGD_ID:7207391 12324020 GJA5 gap junction protein alpha 5 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2692 D RGD:9068941 20200609 RGD PMID:19077877|REF_RGD_ID:7207423 12324020 GJA5 gap junction protein alpha 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12324020 GJA5 gap junction protein alpha 5 gene DOID:9004484 Sepsis ISO RGD:2692 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta endothelium PMID:15942348|REF_RGD_ID:7207815 12324020 GJA5 gap junction protein alpha 5 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2692 D RGD:9068941 20200609 RGD PMID:20609064|REF_RGD_ID:7207415 12324020 GJA5 gap junction protein alpha 5 gene DOID:9008693 Familial Atrial Fibrillation 11 ISO RGD:736164 D RGD:7240710 20180130 OMIM 12324020 GJA5 gap junction protein alpha 5 gene DOID:9008693 Familial Atrial Fibrillation 11 ISO RGD:736164 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 11 PMID:16790700|PMID:20818502|PMID:23348765|PMID:24060583|PMID:24144883|PMID:25741868|PMID:26503720|PMID:28074886|PMID:28457700|PMID:28492532|PMID:30847666|PMID:9588401 12324020 GJA5 gap junction protein alpha 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12324020 GJA5 gap junction protein alpha 5 gene DOID:9970 obesity ISO RGD:2692 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:mesenteric artery PMID:18324386|REF_RGD_ID:7207466 12324026 JADE1 jade family PHD finger 1 gene DOID:630 genetic disease ISO RGD:1315809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324063 CC2D1A coiled-coil and C2 domain containing 1A gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1606546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:24026677|PMID:25741868|PMID:27799067|PMID:28492532 12324063 CC2D1A coiled-coil and C2 domain containing 1A gene DOID:0081179 autosomal recessive intellectual developmental disorder 3 ISO RGD:1606546 D RGD:7240710 20180130 OMIM 12324063 CC2D1A coiled-coil and C2 domain containing 1A gene DOID:0081179 autosomal recessive intellectual developmental disorder 3 ISO RGD:1606546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 3 PMID:16033914|PMID:18414213|PMID:21102627|PMID:24026677|PMID:24033266|PMID:25066123|PMID:25741868|PMID:26350204|PMID:27799067|PMID:28492532|PMID:31980526 12324063 CC2D1A coiled-coil and C2 domain containing 1A gene DOID:1059 intellectual disability ISO RGD:1606546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual disability PMID:24033266|PMID:25066123|PMID:25741868|PMID:28492532 12324063 CC2D1A coiled-coil and C2 domain containing 1A gene DOID:630 genetic disease ISO RGD:1606546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:21102627|PMID:24026677|PMID:25741868|PMID:26350204|PMID:27799067|PMID:28492532|PMID:28518168|PMID:31980526|PMID:32461654 12324063 CC2D1A coiled-coil and C2 domain containing 1A gene DOID:9008086 Developmental Disabilities ISO RGD:1606546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 12324098 DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1312206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12324098 DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease gene DOID:0060476 Perlman syndrome ISO RGD:1312206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:25741868 12324098 DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease gene DOID:630 genetic disease ISO RGD:1312206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324098 DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease gene DOID:9538 multiple myeloma ISO RGD:1312206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12324127 WSCD2 WSC domain containing 2 gene DOID:630 genetic disease ISO RGD:1605710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324127 WSCD2 WSC domain containing 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1605710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12324156 DISC1 DISC1 scaffold protein gene DOID:0050432 Asperger syndrome ISO RGD:736704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17579608 12324156 DISC1 DISC1 scaffold protein gene DOID:0050432 Asperger syndrome susceptibility ISO RGD:736704 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:18317464|REF_RGD_ID:5509836 12324156 DISC1 DISC1 scaffold protein gene DOID:0070085 schizophrenia 9 susceptibility ISO RGD:736704 D RGD:7240710 20190502 OMIM 12324156 DISC1 DISC1 scaffold protein gene DOID:1059 intellectual disability ISO RGD:736704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20002455 12324156 DISC1 DISC1 scaffold protein gene DOID:12849 autistic disorder ISO RGD:736704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12324156 DISC1 DISC1 scaffold protein gene DOID:12849 autistic disorder susceptibility ISO RGD:736704 D RGD:9068941 20200609 RGD DNA:polymorphism:microsatellite: PMID:18317464|REF_RGD_ID:5509836 12324156 DISC1 DISC1 scaffold protein gene DOID:1470 major depressive disorder ISO RGD:736704 D RGD:9068941 20200609 RGD protein:altered expression:orbitofrontal cortex PMID:15657124|REF_RGD_ID:5509834 12324156 DISC1 DISC1 scaffold protein gene DOID:1470 major depressive disorder susceptibility ISO RGD:736704 D RGD:9068941 20200609 RGD DNA:SNP:Cds:p.S704C(human) PMID:16959794|REF_RGD_ID:5509832 12324156 DISC1 DISC1 scaffold protein gene DOID:1540 parathyroid carcinoma ISO RGD:736704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12324156 DISC1 DISC1 scaffold protein gene DOID:1595 melancholic depression ISO RGD:1332081 D RGD:9068941 20220825 MouseDO OMIM:608516 12324156 DISC1 DISC1 scaffold protein gene DOID:1596 depressive disorder ISO RGD:736704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29643356 12324156 DISC1 DISC1 scaffold protein gene DOID:2030 anxiety disorder ISO RGD:736704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29643356 12324156 DISC1 DISC1 scaffold protein gene DOID:2468 psychotic disorder ISO RGD:736704 D RGD:9068941 20200609 RGD PMID:10814723|REF_RGD_ID:5509828 12324156 DISC1 DISC1 scaffold protein gene DOID:2468 psychotic disorder susceptibility ISO RGD:736704 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:15386212|REF_RGD_ID:5509833 12324156 DISC1 DISC1 scaffold protein gene DOID:303 substance-related disorder severity ISO RGD:736704 D RGD:9068941 20200609 RGD protein:altered expression:orbitofrontal cortex PMID:15657124|REF_RGD_ID:5509834 12324156 DISC1 DISC1 scaffold protein gene DOID:3312 bipolar disorder ISO RGD:736704 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1538979, rs821577, rs821633 (human) PMID:18317464|REF_RGD_ID:5509836 12324156 DISC1 DISC1 scaffold protein gene DOID:3312 bipolar disorder ISO RGD:736704 D RGD:9068941 20200609 RGD DNA;SNPs: :rs2738864,rs16841582 (human) PMID:21222298|REF_RGD_ID:5509829 12324156 DISC1 DISC1 scaffold protein gene DOID:3312 bipolar disorder susceptibility ISO RGD:736704 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:15386212|REF_RGD_ID:5509833 12324156 DISC1 DISC1 scaffold protein gene DOID:5419 schizophrenia ISO RGD:1332081 D RGD:9068941 20220825 MouseDO OMIM:181500 12324156 DISC1 DISC1 scaffold protein gene DOID:5419 schizophrenia ISO RGD:736704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20531374|PMID:20561508 12324156 DISC1 DISC1 scaffold protein gene DOID:5419 schizophrenia ISO RGD:736704 D RGD:9068941 20200609 RGD PMID:10814723|REF_RGD_ID:5509828 12324156 DISC1 DISC1 scaffold protein gene DOID:5419 schizophrenia ISO RGD:736704 D RGD:9068941 20200609 RGD DNA:SNP:cds:rs6675281(human) PMID:20505556|REF_RGD_ID:5509830 12324156 DISC1 DISC1 scaffold protein gene DOID:5419 schizophrenia ISO RGD:736704 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1538979, rs821577, rs821633(human) PMID:18317464|REF_RGD_ID:5509836 12324156 DISC1 DISC1 scaffold protein gene DOID:5419 schizophrenia ISO RGD:736704 D RGD:9068941 20200609 RGD protein:altered expression:orbitofrontal cortex PMID:15657124|REF_RGD_ID:5509834 12324156 DISC1 DISC1 scaffold protein gene DOID:5419 schizophrenia susceptibility ISO RGD:736704 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:15386212|REF_RGD_ID:5509833 12324156 DISC1 DISC1 scaffold protein gene DOID:630 genetic disease ISO RGD:736704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324156 DISC1 DISC1 scaffold protein gene DOID:8544 chronic fatigue syndrome susceptibility ISO RGD:736704 D RGD:9068941 20200609 RGD DNA:SNP:Cds:p.S704C(human) PMID:20227423|REF_RGD_ID:5509831 12324156 DISC1 DISC1 scaffold protein gene DOID:9000641 Pain ISO RGD:736704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561508 12324156 DISC1 DISC1 scaffold protein gene DOID:9002362 Hyperkinesis ISO RGD:736704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26754951 12324156 DISC1 DISC1 scaffold protein gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:736704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 12324156 DISC1 DISC1 scaffold protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12324156 DISC1 DISC1 scaffold protein gene DOID:9923 developmental coordination disorder ISO RGD:736704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26754951 12324186 ROR1 receptor tyrosine kinase like orphan receptor 1 gene DOID:0080263 autosomal recessive nonsyndromic deafness 108 ISO RGD:1352147 D RGD:7240710 20190315 OMIM 12324186 ROR1 receptor tyrosine kinase like orphan receptor 1 gene DOID:0080263 autosomal recessive nonsyndromic deafness 108 ISO RGD:1352147 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 108 PMID:25741868|PMID:27162350|PMID:28492532 12324186 ROR1 receptor tyrosine kinase like orphan receptor 1 gene DOID:1059 intellectual disability ISO RGD:1352147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12324186 ROR1 receptor tyrosine kinase like orphan receptor 1 gene DOID:630 genetic disease ISO RGD:1352147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12324186 ROR1 receptor tyrosine kinase like orphan receptor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 12324186 ROR1 receptor tyrosine kinase like orphan receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1352147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 12324198 WDR25 WD repeat domain 25 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1606781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 12324198 WDR25 WD repeat domain 25 gene DOID:2843 long QT syndrome ISO RGD:1606781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12324198 WDR25 WD repeat domain 25 gene DOID:630 genetic disease ISO RGD:1606781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324225 TRAF3 TNF receptor associated factor 3 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1312182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:28492532 12324225 TRAF3 TNF receptor associated factor 3 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1312182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12324225 TRAF3 TNF receptor associated factor 3 gene DOID:3070 high grade glioma ISO RGD:1312182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12324225 TRAF3 TNF receptor associated factor 3 gene DOID:630 genetic disease ISO RGD:1312182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12324225 TRAF3 TNF receptor associated factor 3 gene DOID:9001392 Herpes Simplex Encephalitis 3 ISO RGD:1312182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 PMID:17576681|PMID:25741868|PMID:28492532|PMID:31681265|PMID:9536098 12324225 TRAF3 TNF receptor associated factor 3 gene DOID:9001392 Herpes Simplex Encephalitis 3 susceptibility ISO RGD:1312182 D RGD:7240710 20190502 OMIM 12324225 TRAF3 TNF receptor associated factor 3 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1312182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 12324225 TRAF3 TNF receptor associated factor 3 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1312182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12324225 TRAF3 TNF receptor associated factor 3 gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1312182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 12324242 KRT9 keratin 9 gene DOID:0080223 epidermolytic palmoplantar keratoderma ISO RGD:736715 D RGD:7240710 20180130 OMIM 12324242 KRT9 keratin 9 gene DOID:0080223 epidermolytic palmoplantar keratoderma ISO RGD:736715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma PMID:12072061|PMID:12838553|PMID:1385292|PMID:152116|PMID:17074468|PMID:19106041|PMID:20964665|PMID:22262370|PMID:24862219|PMID:2531643|PMID:25741868|PMID:28492532|PMID:2960371|PMID:30666268|PMID:7511021|PMID:7512862|PMID:7516304|PMID:7523529|PMID:7532199|PMID:8647270|PMID:9204965|PMID:9856842 12324242 KRT9 keratin 9 gene DOID:10283 prostate cancer ISO RGD:736715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12324242 KRT9 keratin 9 gene DOID:3390 palmoplantar keratosis ISO RGD:736715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma PMID:12838553|PMID:1385292|PMID:17074468|PMID:19106041|PMID:22262370|PMID:2531643|PMID:25741868|PMID:28492532|PMID:7512862|PMID:7523529 12324242 KRT9 keratin 9 gene DOID:630 genetic disease ISO RGD:736715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12838553|PMID:24862219|PMID:25741868|PMID:28492532|PMID:7512862|PMID:8647270|PMID:9856842 12324242 KRT9 keratin 9 gene DOID:9002223 Diffuse Palmoplantar Keratoderma ISO RGD:736715 D RGD:9068941 20200609 RGD EPPK, OMIM:144200 PMID:7512862|REF_RGD_ID:1600065 12324242 KRT9 keratin 9 gene DOID:9007353 Epidermolytic Palmoplantar Keratoderma, with Knuckle Pads ISO RGD:736715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma, epidermolytic, with knuckle pads PMID:12192490|PMID:12838553|PMID:1385292|PMID:17074468|PMID:19106041|PMID:22262370|PMID:2531643|PMID:25741868|PMID:28492532|PMID:7512862|PMID:7523529 12324253 PKN3 protein kinase N3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1314240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12324253 PKN3 protein kinase N3 gene DOID:630 genetic disease ISO RGD:1314240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324284 MSN moesin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12324284 MSN moesin gene DOID:0112001 immunodeficiency 50 ISO RGD:732547 D RGD:7240710 20190315 OMIM 12324284 MSN moesin gene DOID:0112001 immunodeficiency 50 ISO RGD:732547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to moesin deficiency PMID:24033266|PMID:25741868|PMID:27405666|PMID:28378256|PMID:28492532|PMID:29556235 12324284 MSN moesin gene DOID:12849 autistic disorder ISO RGD:732547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12324284 MSN moesin gene DOID:630 genetic disease ISO RGD:732547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324284 MSN moesin gene DOID:676 juvenile rheumatoid arthritis ISO RGD:732547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12324284 MSN moesin gene DOID:8398 osteoarthritis ISO RGD:732547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12324284 MSN moesin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12324284 MSN moesin gene DOID:9007102 Myocardial Ischemia ISO RGD:732547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12324307 ZCCHC12 zinc finger CCHC-type containing 12 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12324307 ZCCHC12 zinc finger CCHC-type containing 12 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1342670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 12324307 ZCCHC12 zinc finger CCHC-type containing 12 gene DOID:12849 autistic disorder ISO RGD:1342670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12324307 ZCCHC12 zinc finger CCHC-type containing 12 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1342670 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30431698 12324307 ZCCHC12 zinc finger CCHC-type containing 12 gene DOID:630 genetic disease ISO RGD:1342670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324317 DCPS decapping enzyme, scavenger gene DOID:0111723 Jacobsen Syndrome ISO RGD:1344529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12324317 DCPS decapping enzyme, scavenger gene DOID:5419 schizophrenia ISO RGD:1344529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12324317 DCPS decapping enzyme, scavenger gene DOID:630 genetic disease ISO RGD:1344529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12324317 DCPS decapping enzyme, scavenger gene DOID:9003530 Al-Raqad Syndrome ISO RGD:1344529 D RGD:7240710 20180130 OMIM 12324317 DCPS decapping enzyme, scavenger gene DOID:9003530 Al-Raqad Syndrome ISO RGD:1344529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Al-Raqad syndrome PMID:25701870|PMID:25712129|PMID:25741868|PMID:28492532|PMID:30289615 12324317 DCPS decapping enzyme, scavenger gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12324317 DCPS decapping enzyme, scavenger gene DOID:9007661 Dwarfism ISO RGD:1344529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12324327 UQCRQ ubiquinol-cytochrome c reductase complex III subunit VII gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1604364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 12324327 UQCRQ ubiquinol-cytochrome c reductase complex III subunit VII gene DOID:0080113 mitochondrial complex III deficiency nuclear type 4 ISO RGD:1604364 D RGD:7240710 20180130 OMIM 12324327 UQCRQ ubiquinol-cytochrome c reductase complex III subunit VII gene DOID:0080113 mitochondrial complex III deficiency nuclear type 4 ISO RGD:1604364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 4 PMID:18439546|PMID:25741868|PMID:28492532 12324327 UQCRQ ubiquinol-cytochrome c reductase complex III subunit VII gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604364 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12324327 UQCRQ ubiquinol-cytochrome c reductase complex III subunit VII gene DOID:630 genetic disease ISO RGD:1604364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324327 UQCRQ ubiquinol-cytochrome c reductase complex III subunit VII gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12324327 UQCRQ ubiquinol-cytochrome c reductase complex III subunit VII gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604364 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12324334 PRKX protein kinase X-linked gene DOID:12849 autistic disorder ISO RGD:1353983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12324334 PRKX protein kinase X-linked gene DOID:630 genetic disease ISO RGD:1353983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324334 PRKX protein kinase X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12324347 WDR1 WD repeat domain 1 gene DOID:0060224 atrial fibrillation ISO RGD:1314033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12324347 WDR1 WD repeat domain 1 gene DOID:11476 osteoporosis ISO RGD:1314033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12324347 WDR1 WD repeat domain 1 gene DOID:1588 thrombocytopenia ISO RGD:1314033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17515402 12324347 WDR1 WD repeat domain 1 gene DOID:630 genetic disease ISO RGD:1314033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12324347 WDR1 WD repeat domain 1 gene DOID:9005372 Inflammation ISO RGD:1314033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17515402 12324347 WDR1 WD repeat domain 1 gene DOID:9005864 Autosomal Dominant Intellectual Developmental Disorder 61 ISO RGD:1314033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder 61 PMID:29740699 12324347 WDR1 WD repeat domain 1 gene DOID:9005933 Lazy Leukocyte Syndrome ISO RGD:1314033 D RGD:7240710 20200812 OMIM 12324347 WDR1 WD repeat domain 1 gene DOID:9005933 Lazy Leukocyte Syndrome ISO RGD:1314033 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lazy leukocyte syndrome | ClinVar Annotator: match by term: WDR1 deficiency PMID:205284|PMID:25741868|PMID:27557945|PMID:27994071|PMID:28492532|PMID:29751004 12324366 GTF2H5 general transcription factor IIH subunit 5 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1345695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 12324366 GTF2H5 general transcription factor IIH subunit 5 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1345695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 12324366 GTF2H5 general transcription factor IIH subunit 5 gene DOID:0111871 photosensitive trichothiodystrophy 3 ISO RGD:1345695 D RGD:7240710 20180130 OMIM 12324366 GTF2H5 general transcription factor IIH subunit 5 gene DOID:0111871 photosensitive trichothiodystrophy 3 ISO RGD:1345695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 3, photosensitive PMID:15220921|PMID:24986372|PMID:25620205|PMID:25741868|PMID:28492532|PMID:30359777 12324366 GTF2H5 general transcription factor IIH subunit 5 gene DOID:630 genetic disease ISO RGD:1345695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12324376 WDR18 WD repeat domain 18 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1321673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 12324376 WDR18 WD repeat domain 18 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1321673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 12324376 WDR18 WD repeat domain 18 gene DOID:5339 cyclic hematopoiesis ISO RGD:1321673 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12324376 WDR18 WD repeat domain 18 gene DOID:630 genetic disease ISO RGD:1321673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324389 NOP56 NOP56 ribonucleoprotein gene DOID:0050753 cerebellar ataxia ISO RGD:1318922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 12324389 NOP56 NOP56 ribonucleoprotein gene DOID:0050983 spinocerebellar ataxia type 36 ISO RGD:1318922 D RGD:7240710 20180130 OMIM 12324389 NOP56 NOP56 ribonucleoprotein gene DOID:0050983 spinocerebellar ataxia type 36 ISO RGD:1318922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 36 PMID:25741868 12324389 NOP56 NOP56 ribonucleoprotein gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1318922 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12324389 NOP56 NOP56 ribonucleoprotein gene DOID:3910 lung adenocarcinoma ISO RGD:1318922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12324389 NOP56 NOP56 ribonucleoprotein gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1318922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12324389 NOP56 NOP56 ribonucleoprotein gene DOID:630 genetic disease ISO RGD:1318922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324389 NOP56 NOP56 ribonucleoprotein gene DOID:9000217 Stomach Neoplasms ISO RGD:1318922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12324389 NOP56 NOP56 ribonucleoprotein gene DOID:9000918 Disease Progression ISO RGD:1318922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12324389 NOP56 NOP56 ribonucleoprotein gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1318922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12324389 NOP56 NOP56 ribonucleoprotein gene DOID:9006205 Animal Disease Models ISO RGD:1318922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12324405 MYH1 myosin heavy chain 1 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:1350148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 12324405 MYH1 myosin heavy chain 1 gene DOID:630 genetic disease ISO RGD:1350148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324455 UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2 gene DOID:0050553 JMP syndrome ISO RGD:1315803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12324455 UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1315803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12324455 UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2 gene DOID:0080116 mitochondrial complex III deficiency nuclear type 7 ISO RGD:1315803 D RGD:7240710 20180130 OMIM 12324455 UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2 gene DOID:0080116 mitochondrial complex III deficiency nuclear type 7 ISO RGD:1315803 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 7 PMID:24385928|PMID:25741868|PMID:28492532 12324455 UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2 gene DOID:630 genetic disease ISO RGD:1315803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324468 LOC100685083 nuclear envelope pore membrane protein POM 121-like gene DOID:0060041 autism spectrum disorder ISO RGD:1351928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 12324468 LOC100685083 nuclear envelope pore membrane protein POM 121-like gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1351928 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 12324468 LOC100685083 nuclear envelope pore membrane protein POM 121-like gene DOID:11983 Prader-Willi syndrome ISO RGD:1351928 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:25741868|PMID:28492532|PMID:28631899 12324468 LOC100685083 nuclear envelope pore membrane protein POM 121-like gene DOID:12849 autistic disorder ISO RGD:1351928 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 12324468 LOC100685083 nuclear envelope pore membrane protein POM 121-like gene DOID:1909 melanoma ISO RGD:1351928 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 12324468 LOC100685083 nuclear envelope pore membrane protein POM 121-like gene DOID:1932 Angelman syndrome ISO RGD:1351928 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:23495136|PMID:24088041|PMID:25099823|PMID:25212744|PMID:25884337|PMID:26633545|PMID:28492532 12324468 LOC100685083 nuclear envelope pore membrane protein POM 121-like gene DOID:5419 schizophrenia ISO RGD:1351928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12324468 LOC100685083 nuclear envelope pore membrane protein POM 121-like gene DOID:630 genetic disease ISO RGD:1351928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324468 LOC100685083 nuclear envelope pore membrane protein POM 121-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12324474 ACACB acetyl-CoA carboxylase beta gene DOID:0060041 autism spectrum disorder ISO RGD:731908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12324474 ACACB acetyl-CoA carboxylase beta gene DOID:0060759 immunodeficiency with hyper IgM type 5 ISO RGD:731908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 PMID:28492532 12324474 ACACB acetyl-CoA carboxylase beta gene DOID:630 genetic disease ISO RGD:731908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324474 ACACB acetyl-CoA carboxylase beta gene DOID:9006646 Metabolic Syndrome ISO RGD:1619056 D RGD:9068941 20230427 RGD mRNA:increased expression:liver (mouse) PMID:29684438|REF_RGD_ID:329333017 12324474 ACACB acetyl-CoA carboxylase beta gene DOID:9007692 Insulin Resistance ISO RGD:620500 D RGD:9068941 20200609 RGD PMID:16485039|REF_RGD_ID:1625727 12324474 ACACB acetyl-CoA carboxylase beta gene DOID:9007692 Insulin Resistance ISO RGD:731908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22658938 12324474 ACACB acetyl-CoA carboxylase beta gene DOID:9008939 Breast Neoplasms ISO RGD:731908 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35191604 12324474 ACACB acetyl-CoA carboxylase beta gene DOID:9452 fatty liver disease ISO RGD:620500 D RGD:9068941 20200609 RGD PMID:16485039|REF_RGD_ID:1625727 12324474 ACACB acetyl-CoA carboxylase beta gene DOID:9970 obesity ISO RGD:731908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12324542 KRT222 keratin 222 gene DOID:630 genetic disease ISO RGD:1606170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324569 FAM205A family with sequence similarity 205 member A gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:5477831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12324569 FAM205A family with sequence similarity 205 member A gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:5477831 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12324569 FAM205A family with sequence similarity 205 member A gene DOID:0080942 anauxetic dysplasia ISO RGD:5477831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12324569 FAM205A family with sequence similarity 205 member A gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:5477831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12324569 FAM205A family with sequence similarity 205 member A gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:5477831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12324569 FAM205A family with sequence similarity 205 member A gene DOID:630 genetic disease ISO RGD:5477831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324569 FAM205A family with sequence similarity 205 member A gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:5477831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12324569 FAM205A family with sequence similarity 205 member A gene DOID:9562 primary ciliary dyskinesia ISO RGD:5477831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12324569 FAM205A family with sequence similarity 205 member A gene DOID:9870 galactosemia ISO RGD:5477831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12324589 GLIPR2 GLI pathogenesis related 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1316497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12324589 GLIPR2 GLI pathogenesis related 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1316497 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12324589 GLIPR2 GLI pathogenesis related 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:1316497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12324589 GLIPR2 GLI pathogenesis related 2 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1316497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12324589 GLIPR2 GLI pathogenesis related 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1316497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12324589 GLIPR2 GLI pathogenesis related 2 gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:1316497 D RGD:9068941 20220303 RGD protein:decreased expression:blood (human) PMID:32663515|REF_RGD_ID:151660329 12324589 GLIPR2 GLI pathogenesis related 2 gene DOID:630 genetic disease ISO RGD:1316497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324589 GLIPR2 GLI pathogenesis related 2 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1316497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12324589 GLIPR2 GLI pathogenesis related 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12324589 GLIPR2 GLI pathogenesis related 2 gene DOID:9870 galactosemia ISO RGD:1316497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12324597 ERFL ETS repressor factor like gene DOID:5419 schizophrenia ISO RGD:14696661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12324640 TERT telomerase reverse transcriptase gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1353510 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form PMID:12629597|PMID:15814878|PMID:15885610|PMID:16199547|PMID:16247010|PMID:16627250|PMID:16990594|PMID:17264120|PMID:17392301|PMID:17460043|PMID:17576681|PMID:17785587|PMID:18042801|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20022961|PMID:20502709|PMID:20871597|PMID:20966039|PMID:21258621|PMID:21483807|PMID:21520173|PMID:21520174|PMID:21543794|PMID:21602826|PMID:21635204|PMID:21931702|PMID:22037553|PMID:22364217|PMID:22476886|PMID:22512499|PMID:22664374|PMID:22853774|PMID:22863003|PMID:23066086|PMID:23258901|PMID:23335200|PMID:23348503|PMID:23535731|PMID:23538340|PMID:23716176|PMID:23901009|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25346280|PMID:25365545|PMID:25562321|PMID:25612863|PMID:25640679|PMID:25741868|PMID:25785092|PMID:2602487|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26194807|PMID:26329388|PMID:26365799|PMID:26433962|PMID:26580448|PMID:26887940|PMID:27159321|PMID:27354474|PMID:27418648|PMID:27540018|PMID:27836952|PMID:27848944|PMID:28099038|PMID:28102861|PMID:28104920|PMID:28154186|PMID:28192371|PMID:28492532|PMID:28495692|PMID:28677271|PMID:28813500|PMID:28873162|PMID:29036293|PMID:29382801|PMID:29463756|PMID:29483670|PMID:29625052|PMID:29749397|PMID:30426156|PMID:30523342|PMID:30791107|PMID:30995915|PMID:31265491|PMID:31268371|PMID:31395865|PMID:32150348|PMID:32315675|PMID:33709208|PMID:33718801|PMID:34019641|PMID:9536098 12324640 TERT telomerase reverse transcriptase gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1353510 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form PMID:12629597|PMID:15814878|PMID:15885610|PMID:16199547|PMID:16247010|PMID:16627250|PMID:16990594|PMID:17264120|PMID:17392301|PMID:17460043|PMID:17576681|PMID:17785587|PMID:18042801|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20022961|PMID:20502709|PMID:20871597|PMID:20966039|PMID:21258621|PMID:21436073|PMID:21483807|PMID:21520173|PMID:21520174|PMID:21543794|PMID:21602826|PMID:21635204|PMID:21931702|PMID:22037553|PMID:22364217|PMID:22476886|PMID:22512499|PMID:22664374|PMID:22853774|PMID:22863003|PMID:23066086|PMID:23258901|PMID:23335200|PMID:23348503|PMID:23535731|PMID:23538340|PMID:23716176|PMID:23901009|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25346280|PMID:25365545|PMID:25562321|PMID:25612863|PMID:25640679|PMID:25741868|PMID:25785092|PMID:2602487|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26194807|PMID:26329388|PMID:26365799|PMID:26433962|PMID:26580448|PMID:26887940|PMID:27159321|PMID:27354474|PMID:27418648|PMID:27540018|PMID:27836952|PMID:27848944|PMID:27854218|PMID:28099038|PMID:28102861|PMID:28104920|PMID:28154186|PMID:28192371|PMID:28492532|PMID:28495692|PMID:28677271|PMID:28813500|PMID:28873162|PMID:29036293|PMID:29382801|PMID:29463756|PMID:29483670|PMID:29625052|PMID:29749397|PMID:30426156|PMID:30523342|PMID:30791107|PMID:30995915|PMID:31268371|PMID:31395865|PMID:32150348|PMID:32315675|PMID:33709208|PMID:33718801|PMID:34019641|PMID:34890115|PMID:9536098 12324640 TERT telomerase reverse transcriptase gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1353510 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial idiopathic pulmonary fibrosis | ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form PMID:12629597|PMID:15814878|PMID:15885610|PMID:16199547|PMID:16247010|PMID:16332973|PMID:16627250|PMID:16990594|PMID:17264120|PMID:17392301|PMID:17460043|PMID:17576681|PMID:17785587|PMID:18042801|PMID:18302718|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19489057|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20022961|PMID:20044353|PMID:20301779|PMID:20502709|PMID:20858879|PMID:20871597|PMID:20966039|PMID:21258621|PMID:21436073|PMID:21483807|PMID:21520173|PMID:21520174|PMID:21543794|PMID:21602826|PMID:21635204|PMID:21931702|PMID:22037553|PMID:22364217|PMID:22424236|PMID:22476886|PMID:22512499|PMID:22664374|PMID:22853774|PMID:22863003|PMID:23066086|PMID:23258901|PMID:23335200|PMID:23348503|PMID:23535731|PMID:23538340|PMID:23716176|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25346280|PMID:25365545|PMID:25393420|PMID:25562321|PMID:25612863|PMID:25640679|PMID:25741868|PMID:25785092|PMID:2602487|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26194807|PMID:26329388|PMID:26365799|PMID:26433962|PMID:26580448|PMID:26887940|PMID:27159321|PMID:27354474|PMID:27418648|PMID:27540018|PMID:27836952|PMID:27848944|PMID:28099038|PMID:28102861|PMID:28104920|PMID:28154186|PMID:28192371|PMID:28492532|PMID:28495683|PMID:28495692|PMID:28677271|PMID:28813500|PMID:28818973|PMID:28873162|PMID:29036293|PMID:29382801|PMID:29463756|PMID:29483670|PMID:29625052|PMID:29749397|PMID:30426156|PMID:30523342|PMID:30603600|PMID:30791107|PMID:30995915|PMID:31268371|PMID:31395865|PMID:32150348|PMID:32315675|PMID:33035329|PMID:33709208|PMID:33718801|PMID:34019641|PMID:34890115|PMID:9536098 12324640 TERT telomerase reverse transcriptase gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1353510 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:15814878|PMID:16199547|PMID:16247010|PMID:17392301|PMID:17460043|PMID:17785587|PMID:18302718|PMID:18460650|PMID:19561322|PMID:19760749|PMID:19796246|PMID:20022961|PMID:20301779|PMID:20502709|PMID:21436073|PMID:21520174|PMID:21543794|PMID:22364217|PMID:22853774|PMID:22863003|PMID:23335200|PMID:23538340|PMID:23901009|PMID:24033266|PMID:24833766|PMID:25271372|PMID:25365545|PMID:25741868|PMID:26024875|PMID:26136524|PMID:26365799|PMID:27540018|PMID:27622320|PMID:27836952|PMID:28102861|PMID:28154186|PMID:28492532|PMID:28495683|PMID:28677271|PMID:28813500|PMID:29036293|PMID:29483670|PMID:30523342|PMID:30603600|PMID:31268371 12324640 TERT telomerase reverse transcriptase gene DOID:0050685 small cell carcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNP: :rs2736098(human) PMID:24761905|REF_RGD_ID:150530628 12324640 TERT telomerase reverse transcriptase gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNPs: :rs2736100,rs2736098(human) PMID:28025427|REF_RGD_ID:150530487 12324640 TERT telomerase reverse transcriptase gene DOID:0050908 myelodysplastic syndrome ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelodysplasia PMID:25741868|PMID:28492532|PMID:29463756|PMID:33718801 12324640 TERT telomerase reverse transcriptase gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:19270495|REF_RGD_ID:11038661 12324640 TERT telomerase reverse transcriptase gene DOID:0060074 ductal carcinoma in situ ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast PMID:15010825|REF_RGD_ID:2291992 12324640 TERT telomerase reverse transcriptase gene DOID:0060645 chronic recurrent multifocal osteomyelitis ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic osteomyelitis PMID:16890917|PMID:28492532 12324640 TERT telomerase reverse transcriptase gene DOID:0070004 myeloid neoplasm ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29047144 12324640 TERT telomerase reverse transcriptase gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1353510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:12167716|PMID:15885610|PMID:16247010|PMID:18042801|PMID:18635888|PMID:18931339|PMID:20301779|PMID:21602826|PMID:23901009|PMID:24033266|PMID:25365545|PMID:25741868|PMID:26360549|PMID:27418648|PMID:28154186|PMID:28492532|PMID:30523342 12324640 TERT telomerase reverse transcriptase gene DOID:0070015 autosomal recessive dyskeratosis congenita 1 ISO RGD:1353510 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 PMID:17785587|PMID:20301779|PMID:25741868|PMID:26887940|PMID:28192371|PMID:28492532|PMID:30603600 12324640 TERT telomerase reverse transcriptase gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1353510 D RGD:7240710 20180919 OMIM 12324640 TERT telomerase reverse transcriptase gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1353510 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12167716|PMID:12629597|PMID:15814878|PMID:15885610|PMID:16199547|PMID:16247010|PMID:16332973|PMID:16627250|PMID:17264120|PMID:17392301|PMID:17460043|PMID:17576681|PMID:17785587|PMID:18042801|PMID:18302718|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19489057|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20022961|PMID:20044353|PMID:20301779|PMID:20502709|PMID:20858879|PMID:20871597|PMID:20966039|PMID:21258621|PMID:21349926|PMID:21436073|PMID:21483807|PMID:21520173|PMID:21520174|PMID:21543794|PMID:21602826|PMID:21635204|PMID:21931702|PMID:22037553|PMID:22364217|PMID:22424236|PMID:22476886|PMID:22512499|PMID:22664374|PMID:22853774|PMID:22863003|PMID:23066086|PMID:23258901|PMID:23335200|PMID:23348503|PMID:23535731|PMID:23538340|PMID:23716176|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24833766|PMID:24983628|PMID:25108601|PMID:25244922|PMID:25271372|PMID:25365545|PMID:25393420|PMID:25562321|PMID:25612863|PMID:25640679|PMID:25741868|PMID:25785092|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26194807|PMID:26360549|PMID:26365799|PMID:26433962|PMID:26580448|PMID:26859482|PMID:26887940|PMID:27159321|PMID:27192671|PMID:27354474|PMID:27418648|PMID:27540018|PMID:27622320|PMID:27824607|PMID:27836952|PMID:27848944|PMID:28099038|PMID:28102861|PMID:28104920|PMID:28154186|PMID:28192371|PMID:28492532|PMID:28495683|PMID:28677271|PMID:28767289|PMID:28813500|PMID:28818973|PMID:28873162|PMID:29036293|PMID:29146883|PMID:29382801|PMID:29463756|PMID:29483670|PMID:29625052|PMID:29749397|PMID:30203795|PMID:30426156|PMID:30523342|PMID:30791107|PMID:30995915|PMID:31119896|PMID:31268371|PMID:31395865|PMID:32315675|PMID:33035329|PMID:33709208|PMID:33718801|PMID:34019641|PMID:34565437|PMID:34890115|PMID:9536098 12324640 TERT telomerase reverse transcriptase gene DOID:0070021 autosomal recessive dyskeratosis congenita 4 ISO RGD:1353510 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive dyskeratosis congenita 4 PMID:15814878|PMID:17785587|PMID:18042801|PMID:18635888|PMID:18753630|PMID:18931339|PMID:20301779|PMID:20502709|PMID:21258621|PMID:21602826|PMID:23901009|PMID:23905534|PMID:24033266|PMID:25365545|PMID:25741868|PMID:26887940|PMID:27418648|PMID:28192371|PMID:28492532|PMID:30523342|PMID:30603600|PMID:34890115 12324640 TERT telomerase reverse transcriptase gene DOID:10283 prostate cancer ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:plasma PMID:17108213|REF_RGD_ID:2291990 12324640 TERT telomerase reverse transcriptase gene DOID:10325 silicosis ISO RGD:70494 D RGD:9068941 20220609 RGD mRNA:increased expression:lung (rat) PMID:29230030|REF_RGD_ID:152977761 12324640 TERT telomerase reverse transcriptase gene DOID:1037 lymphoid leukemia ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24292274 12324640 TERT telomerase reverse transcriptase gene DOID:10485 esophageal atresia ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12324640 TERT telomerase reverse transcriptase gene DOID:10534 stomach cancer ISO RGD:1353510 D RGD:9068941 20220602 RGD mRNA:increased expression:mucosa of stomach PMID:16696344|REF_RGD_ID:152977754 12324640 TERT telomerase reverse transcriptase gene DOID:10907 microcephaly ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12324640 TERT telomerase reverse transcriptase gene DOID:11054 urinary bladder cancer ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 12324640 TERT telomerase reverse transcriptase gene DOID:11054 urinary bladder cancer ISO RGD:1353510 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:17644139|REF_RGD_ID:2291986 12324640 TERT telomerase reverse transcriptase gene DOID:12241 beta thalassemia ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow PMID:18466174|REF_RGD_ID:11038664 12324640 TERT telomerase reverse transcriptase gene DOID:12449 aplastic anemia ISO RGD:1353510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:12167716|PMID:15814878|PMID:15885610|PMID:16332973|PMID:16627250|PMID:17460043|PMID:18042801|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19489057|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20044353|PMID:20301779|PMID:20502709|PMID:20858879|PMID:20966039|PMID:21258621|PMID:21520173|PMID:21602826|PMID:21635204|PMID:21931702|PMID:22424236|PMID:22476886|PMID:23538340|PMID:23716176|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25741868|PMID:25785092|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26360549|PMID:26365799|PMID:27354474|PMID:27540018|PMID:27848944|PMID:28104920|PMID:28154186|PMID:28492532|PMID:28677271|PMID:28813500|PMID:29146883|PMID:29625052|PMID:30523342 12324640 TERT telomerase reverse transcriptase gene DOID:12580 Cri-du-Chat syndrome ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12629597 12324640 TERT telomerase reverse transcriptase gene DOID:1319 brain cancer ameliorates ISO RGD:1353510 D RGD:9068941 20220609 RGD DNA:SNP:cds:rs2736100 (human) PMID:26014354|REF_RGD_ID:152985535 12324640 TERT telomerase reverse transcriptase gene DOID:1324 lung cancer ISO RGD:1353510 D RGD:9068941 20220603 RGD mRNA:increased expression:lung PMID:10969652|REF_RGD_ID:152977758 12324640 TERT telomerase reverse transcriptase gene DOID:14566 disease of cellular proliferation ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25261935 12324640 TERT telomerase reverse transcriptase gene DOID:1612 breast cancer ISO RGD:1353510 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:20301779|PMID:24033266|PMID:25741868|PMID:28492532 12324640 TERT telomerase reverse transcriptase gene DOID:1793 pancreatic cancer ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25086665|PMID:26098869 12324640 TERT telomerase reverse transcriptase gene DOID:1883 hepatitis C disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:24634940|REF_RGD_ID:14696782 12324640 TERT telomerase reverse transcriptase gene DOID:1884 viral hepatitis disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:17212643|REF_RGD_ID:14696781 12324640 TERT telomerase reverse transcriptase gene DOID:1909 melanoma ISO RGD:1353510 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:20856939 12324640 TERT telomerase reverse transcriptase gene DOID:1909 melanoma ISO RGD:1353510 D RGD:9068941 20220512 RGD mRNA:increased expression:plasma PMID:14654933|REF_RGD_ID:2291969 12324640 TERT telomerase reverse transcriptase gene DOID:1909 melanoma ISO RGD:1353510 D RGD:9068941 20220610 RGD DNA:SNP:cds:rs455433|rs2736100 (human) PMID:25231748|REF_RGD_ID:152995261 12324640 TERT telomerase reverse transcriptase gene DOID:1967 leiomyosarcoma ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:myometrium PMID:10652422|REF_RGD_ID:2298564 12324640 TERT telomerase reverse transcriptase gene DOID:2154 nephroblastoma disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:16172460|REF_RGD_ID:2291966 12324640 TERT telomerase reverse transcriptase gene DOID:224 transient cerebral ischemia treatment ISO RGD:70494 D RGD:9068941 20200609 RGD PMID:21914402|REF_RGD_ID:11038669 12324640 TERT telomerase reverse transcriptase gene DOID:234 colon adenocarcinoma treatment ISO RGD:70505 D RGD:9068941 20200609 RGD PMID:19903903|REF_RGD_ID:11038656 12324640 TERT telomerase reverse transcriptase gene DOID:2361 macrocytic anemia ISO RGD:1353510 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Macrocytic anemia PMID:25741868|PMID:28099038|PMID:28492532|PMID:33035329 12324640 TERT telomerase reverse transcriptase gene DOID:2513 basal cell carcinoma ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 12324640 TERT telomerase reverse transcriptase gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:70505 D RGD:9068941 20200609 RGD PMID:19903903|REF_RGD_ID:11038656 12324640 TERT telomerase reverse transcriptase gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:urine, urothelial cell PMID:17961306|REF_RGD_ID:2291982 12324640 TERT telomerase reverse transcriptase gene DOID:2729 dyskeratosis congenita ISO RGD:1353510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:15814878|PMID:15885610|PMID:16199547|PMID:16247010|PMID:16332973|PMID:16627250|PMID:17460043|PMID:17576681|PMID:17785587|PMID:18042801|PMID:18302718|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19489057|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20044353|PMID:20301779|PMID:20502709|PMID:20858879|PMID:20871597|PMID:20966039|PMID:21258621|PMID:21520173|PMID:21520174|PMID:21602826|PMID:21635204|PMID:21931702|PMID:22037553|PMID:22364217|PMID:22424236|PMID:22476886|PMID:22512499|PMID:22853774|PMID:23066086|PMID:23348503|PMID:23535731|PMID:23538340|PMID:23716176|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25365545|PMID:25393420|PMID:25562321|PMID:25741868|PMID:25785092|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26194807|PMID:26433962|PMID:26580448|PMID:26859482|PMID:27159321|PMID:27354474|PMID:27418648|PMID:27540018|PMID:27848944|PMID:28099038|PMID:28102861|PMID:28104920|PMID:28154186|PMID:28492532|PMID:28495683|PMID:28818973|PMID:28873162|PMID:29146883|PMID:29483670|PMID:29625052|PMID:30523342|PMID:30603600|PMID:30791107|PMID:30995915|PMID:31119896|PMID:31395865|PMID:33035329|PMID:33718801|PMID:34019641|PMID:9536098 12324640 TERT telomerase reverse transcriptase gene DOID:3070 high grade glioma ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18021753|PMID:19578367 12324640 TERT telomerase reverse transcriptase gene DOID:3082 interstitial lung disease ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease PMID:25741868|PMID:28492532|PMID:31268371 12324640 TERT telomerase reverse transcriptase gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1353510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease PMID:25741868|PMID:28492532 12324640 TERT telomerase reverse transcriptase gene DOID:3307 teratoma ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:decreased expression PMID:12168080|REF_RGD_ID:2298558 12324640 TERT telomerase reverse transcriptase gene DOID:3355 fibrosarcoma treatment ISO RGD:70505 D RGD:9068941 20200609 RGD PMID:19903903|REF_RGD_ID:11038656 12324640 TERT telomerase reverse transcriptase gene DOID:3393 coronary artery disease ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16890917 12324640 TERT telomerase reverse transcriptase gene DOID:3459 breast carcinoma ISO RGD:1353510 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:15814878|PMID:17460043|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19760749|PMID:19796246|PMID:20301779|PMID:20966039|PMID:21520173|PMID:21635204|PMID:22476886|PMID:23538340|PMID:23901009|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25741868|PMID:28154186|PMID:28492532 12324640 TERT telomerase reverse transcriptase gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1353510 D RGD:9068941 20220603 RGD mRNA:increased expression:esophagus squamous epithelium: PMID:15112252|REF_RGD_ID:152977757 12324640 TERT telomerase reverse transcriptase gene DOID:3748 esophagus squamous cell carcinoma no_association ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNP: :rs2736098(human) PMID:25007268|REF_RGD_ID:150530488 12324640 TERT telomerase reverse transcriptase gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNPs: : rs2853691,rs2736100(human) PMID:26716642|REF_RGD_ID:11572962 12324640 TERT telomerase reverse transcriptase gene DOID:3770 pulmonary fibrosis ISO RGD:1353510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:12167716|PMID:15814878|PMID:15885610|PMID:16247010|PMID:17264120|PMID:17392301|PMID:17460043|PMID:18042801|PMID:18302718|PMID:18460650|PMID:18635888|PMID:18931339|PMID:19760749|PMID:19796246|PMID:20022961|PMID:20044353|PMID:20301779|PMID:20502709|PMID:21349926|PMID:21483807|PMID:21543794|PMID:21602826|PMID:21931702|PMID:22364217|PMID:22664374|PMID:22853774|PMID:22863003|PMID:23538340|PMID:23901009|PMID:24033266|PMID:25271372|PMID:25365545|PMID:25562321|PMID:25741868|PMID:26024875|PMID:26360549|PMID:26859482|PMID:27418648|PMID:27540018|PMID:28099038|PMID:28102861|PMID:28154186|PMID:28192371|PMID:28492532|PMID:29483670|PMID:30523342|PMID:30995915|PMID:31268371|PMID:33035329|PMID:33718801|PMID:34890115 12324640 TERT telomerase reverse transcriptase gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNP:: rs2853669(human) PMID:23908149|REF_RGD_ID:150530498 12324640 TERT telomerase reverse transcriptase gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211224 RGD DNA:SNP::rs33963617(human) PMID:31935503|REF_RGD_ID:150530635 12324640 TERT telomerase reverse transcriptase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21252717 12324640 TERT telomerase reverse transcriptase gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1353510 D RGD:9068941 20211224 RGD DNA:SNP: :rs2736098(human) PMID:24679952|REF_RGD_ID:150530644 12324640 TERT telomerase reverse transcriptase gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1353510 D RGD:9068941 20211224 RGD DNA:SNPs, haplotype: :rs2853669,rs2736108(human) PMID:27982019|REF_RGD_ID:150530632 12324640 TERT telomerase reverse transcriptase gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNP: :rs2736098(human) PMID:23738012|PMID:24761905|REF_RGD_ID:150530485|REF_RGD_ID:150530628 12324640 TERT telomerase reverse transcriptase gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNP:: rs2736100(human) PMID:19955392|REF_RGD_ID:150530502 12324640 TERT telomerase reverse transcriptase gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNPs:: rs2853669,rs2736108(human) PMID:23908149|REF_RGD_ID:150530498 12324640 TERT telomerase reverse transcriptase gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211224 RGD DNA:SNP::rs33963617(human) PMID:31935503|REF_RGD_ID:150530635 12324640 TERT telomerase reverse transcriptase gene DOID:3948 adrenocortical carcinoma ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747642 12324640 TERT telomerase reverse transcriptase gene DOID:4450 renal cell carcinoma ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:18250061|REF_RGD_ID:2291980 12324640 TERT telomerase reverse transcriptase gene DOID:4948 gallbladder carcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNP, haplotype: :rs2736100(human) PMID:29450669|REF_RGD_ID:150530629 12324640 TERT telomerase reverse transcriptase gene DOID:5016 hepatocellular clear cell carcinoma ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:20723213|REF_RGD_ID:14696785 12324640 TERT telomerase reverse transcriptase gene DOID:5016 hepatocellular clear cell carcinoma disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:28460432|REF_RGD_ID:14696783 12324640 TERT telomerase reverse transcriptase gene DOID:557 kidney disease ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16968891 12324640 TERT telomerase reverse transcriptase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 12324640 TERT telomerase reverse transcriptase gene DOID:612 primary immunodeficiency disease ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12324640 TERT telomerase reverse transcriptase gene DOID:630 genetic disease ISO RGD:1353510 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12324640 TERT telomerase reverse transcriptase gene DOID:6432 pulmonary hypertension ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:24376652|REF_RGD_ID:11038675 12324640 TERT telomerase reverse transcriptase gene DOID:6432 pulmonary hypertension treatment ISO RGD:70494 D RGD:9068941 20200609 RGD PMID:24376652|REF_RGD_ID:11038675 12324640 TERT telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:23000435|PMID:25741868|PMID:28492532|PMID:28677271 12324640 TERT telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD DNA:SNP,mutations:promoter:rs2853669 (-245T >C), (-124C > T),(-146C > T)human PMID:26575952|REF_RGD_ID:11564803 12324640 TERT telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD DNA:mutations:promoter: PMID:25123086|REF_RGD_ID:14696767 12324640 TERT telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1353510 D RGD:9068941 20220602 RGD associated with hepatitis B;DNA:SNP: :rs13167280 (human) PMID:23907815|REF_RGD_ID:152975963 12324640 TERT telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma no_association ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:19184104|REF_RGD_ID:14696769 12324640 TERT telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20200609 RGD DNA:mutations, polymorphisms:promoter,intron, exon:rs2736100,rs2736098(human) PMID:28416747|REF_RGD_ID:14696770 12324640 TERT telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNPs::rs2736098(human) PMID:25339005|REF_RGD_ID:150530496 12324640 TERT telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:17175353|REF_RGD_ID:14696768 12324640 TERT telomerase reverse transcriptase gene DOID:6846 familial melanoma ISO RGD:1353510 D RGD:7240710 20180130 OMIM 12324640 TERT telomerase reverse transcriptase gene DOID:6846 familial melanoma ISO RGD:1353510 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9 PMID:20871597|PMID:22037553|PMID:23066086|PMID:23348503|PMID:23535731|PMID:25741868|PMID:26194807|PMID:26433962|PMID:28492532|PMID:28818973|PMID:31395865 12324640 TERT telomerase reverse transcriptase gene DOID:769 neuroblastoma ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26523776 12324640 TERT telomerase reverse transcriptase gene DOID:784 chronic kidney disease treatment ISO RGD:70494 D RGD:9068941 20200609 RGD PMID:23013219|REF_RGD_ID:11038770 12324640 TERT telomerase reverse transcriptase gene DOID:8552 chronic myeloid leukemia ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17157168 12324640 TERT telomerase reverse transcriptase gene DOID:8552 chronic myeloid leukemia ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:15068898|REF_RGD_ID:11038663 12324640 TERT telomerase reverse transcriptase gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17644806|REF_RGD_ID:2291985 12324640 TERT telomerase reverse transcriptase gene DOID:9000039 Spinal Cord Injuries ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:15798365|REF_RGD_ID:2291993 12324640 TERT telomerase reverse transcriptase gene DOID:9000039 Spinal Cord Injuries ISO RGD:70494 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:23793903|REF_RGD_ID:11038671 12324640 TERT telomerase reverse transcriptase gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1353510 D RGD:9068941 20220603 RGD associated with lung non-small cell carcinoma; PMID:11679180|REF_RGD_ID:152977755 12324640 TERT telomerase reverse transcriptase gene DOID:9000300 Refractory Anemia ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:18426652|REF_RGD_ID:11038658 12324640 TERT telomerase reverse transcriptase gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29047144 12324640 TERT telomerase reverse transcriptase gene DOID:9000528 Coronary Disease ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease, susceptibility to PMID:16890917 12324640 TERT telomerase reverse transcriptase gene DOID:9000881 Cutaneous Malignant Melanoma, Susceptibility To, 1 ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 12324640 TERT telomerase reverse transcriptase gene DOID:9000918 Disease Progression ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21252717 12324640 TERT telomerase reverse transcriptase gene DOID:9000981 Autosomal Dominant Dyskeratosis Congenita ISO RGD:1353510 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism 12324640 TERT telomerase reverse transcriptase gene DOID:9001272 Hoyeraal Hreidarsson Syndrome ISO RGD:1353510 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome PMID:20502709|PMID:25741868|PMID:28492532|PMID:34890115 12324640 TERT telomerase reverse transcriptase gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:70505 D RGD:9068941 20200609 RGD mRNA,protein,activity:increased expression, increased activity:kupffer cell: PMID:26725521|REF_RGD_ID:11574970 12324640 TERT telomerase reverse transcriptase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70494 D RGD:9068941 20200609 RGD protein:increased expression, increased localization:nucleus PMID:20353272|REF_RGD_ID:11038673 12324640 TERT telomerase reverse transcriptase gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:19545665|REF_RGD_ID:11038676 12324640 TERT telomerase reverse transcriptase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:17344921|REF_RGD_ID:11038662 12324640 TERT telomerase reverse transcriptase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151717|PMID:21743467 12324640 TERT telomerase reverse transcriptase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23535731 12324640 TERT telomerase reverse transcriptase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:serum PMID:17273731|REF_RGD_ID:2291989 12324640 TERT telomerase reverse transcriptase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 RGD protein:increased activity:ovary PMID:10652422|REF_RGD_ID:2298564 12324640 TERT telomerase reverse transcriptase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 12324640 TERT telomerase reverse transcriptase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17644806|REF_RGD_ID:2291985 12324640 TERT telomerase reverse transcriptase gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:70494 D RGD:9068941 20200609 RGD PMID:21940960|REF_RGD_ID:11038672 12324640 TERT telomerase reverse transcriptase gene DOID:9004009 Reperfusion Injury ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16968891 12324640 TERT telomerase reverse transcriptase gene DOID:9004118 Experimental Melanoma treatment ISO RGD:70505 D RGD:9068941 20200609 RGD PMID:19903903|REF_RGD_ID:11038656 12324640 TERT telomerase reverse transcriptase gene DOID:9004268 Uterine Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:serum PMID:17273731|REF_RGD_ID:2291989 12324640 TERT telomerase reverse transcriptase gene DOID:9004547 Thyroid Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25383969 12324640 TERT telomerase reverse transcriptase gene DOID:9004547 Thyroid Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:12915632|REF_RGD_ID:2291994 12324640 TERT telomerase reverse transcriptase gene DOID:9004547 Thyroid Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:plasma PMID:14654933|REF_RGD_ID:2291969 12324640 TERT telomerase reverse transcriptase gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1353510 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 12324640 TERT telomerase reverse transcriptase gene DOID:9005172 Lung Neoplasms ISO RGD:1353510 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:11323394|PMID:19151717|PMID:23433592 12324640 TERT telomerase reverse transcriptase gene DOID:9005172 Lung Neoplasms treatment ISO RGD:70505 D RGD:9068941 20200609 RGD PMID:19903903|REF_RGD_ID:11038656 12324640 TERT telomerase reverse transcriptase gene DOID:9005221 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 1 ISO RGD:1353510 D RGD:7240710 20180130 OMIM 12324640 TERT telomerase reverse transcriptase gene DOID:9005221 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 1 ISO RGD:1353510 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 PMID:15814878|PMID:15885610|PMID:16199547|PMID:16247010|PMID:16332973|PMID:16627250|PMID:17264120|PMID:17392301|PMID:17460043|PMID:18042801|PMID:18302718|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19489057|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20022961|PMID:20044353|PMID:20301779|PMID:20502709|PMID:20858879|PMID:20966039|PMID:21258621|PMID:21436073|PMID:21483807|PMID:21520173|PMID:21635204|PMID:21931702|PMID:22364217|PMID:22424236|PMID:22476886|PMID:22512499|PMID:22664374|PMID:22853774|PMID:23335200|PMID:23538340|PMID:23716176|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24833766|PMID:24983628|PMID:25108601|PMID:25365545|PMID:25393420|PMID:25741868|PMID:25785092|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26365799|PMID:27354474|PMID:27540018|PMID:27622320|PMID:27836952|PMID:27848944|PMID:28102861|PMID:28104920|PMID:28154186|PMID:28492532|PMID:28677271|PMID:28813500|PMID:29146883|PMID:29483670|PMID:29625052|PMID:30203795|PMID:30523342|PMID:31268371 12324640 TERT telomerase reverse transcriptase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70494 D RGD:9068941 20200609 RGD PMID:20031167|REF_RGD_ID:2316310 12324640 TERT telomerase reverse transcriptase gene DOID:9005969 Refractory Anemia with Excess of Blasts ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:18426652|REF_RGD_ID:11038658 12324640 TERT telomerase reverse transcriptase gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:70494 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:21264070|REF_RGD_ID:11038677 12324640 TERT telomerase reverse transcriptase gene DOID:9006946 Nonimmune Chronic Idiopathic Neutropenia, Adult ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:22133767|REF_RGD_ID:11038657 12324640 TERT telomerase reverse transcriptase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353510 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15814878|PMID:19561322|PMID:20301779|PMID:23901009|PMID:25741868|PMID:26365799|PMID:28154186|PMID:28492532|PMID:28813500 12324640 TERT telomerase reverse transcriptase gene DOID:9007188 Liver Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27064257 12324640 TERT telomerase reverse transcriptase gene DOID:9007715 Endometrial Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:11078809|REF_RGD_ID:2298562 12324640 TERT telomerase reverse transcriptase gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1353510 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :rs10069690,rs2242652(human) PMID:29507683|REF_RGD_ID:14696786 12324640 TERT telomerase reverse transcriptase gene DOID:9008939 Breast Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23535731 12324640 TERT telomerase reverse transcriptase gene DOID:9008939 Breast Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:plasma PMID:14654933|REF_RGD_ID:2291969 12324640 TERT telomerase reverse transcriptase gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:17974999|REF_RGD_ID:2291981 12324640 TERT telomerase reverse transcriptase gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:17616810|REF_RGD_ID:2291987 12324640 TERT telomerase reverse transcriptase gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:1353510 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-1381C>T,-659G>A,-244C>T (human) PMID:17848914|REF_RGD_ID:2291983 12324640 TERT telomerase reverse transcriptase gene DOID:9074 systemic lupus erythematosus ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 12324640 TERT telomerase reverse transcriptase gene DOID:9119 acute myeloid leukemia ISO RGD:1353510 D RGD:7240710 20180130 OMIM 12324640 TERT telomerase reverse transcriptase gene DOID:9119 acute myeloid leukemia ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to PMID:15814878|PMID:17460043|PMID:18042801|PMID:18460650|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19760749|PMID:19796246|PMID:20966039|PMID:21258621|PMID:21520173|PMID:21635204|PMID:22476886|PMID:23538340|PMID:23901009|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25741868|PMID:26859482|PMID:28154186|PMID:28492532 12324640 TERT telomerase reverse transcriptase gene DOID:9119 acute myeloid leukemia ISO RGD:1353510 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to PMID:15814878|PMID:17460043|PMID:18042801|PMID:18460650|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19760749|PMID:19796246|PMID:20301779|PMID:20966039|PMID:21258621|PMID:21520173|PMID:21635204|PMID:22476886|PMID:23538340|PMID:23901009|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25741868|PMID:26859482|PMID:28154186|PMID:28492532 12324640 TERT telomerase reverse transcriptase gene DOID:9119 acute myeloid leukemia ISO RGD:1353510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to PMID:15814878|PMID:17460043|PMID:18042801|PMID:18460650|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19760749|PMID:19796246|PMID:20301779|PMID:20966039|PMID:21258621|PMID:21520173|PMID:21635204|PMID:22476886|PMID:22853774|PMID:23538340|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25741868|PMID:26024875|PMID:26859482|PMID:28154186|PMID:28492532 12324640 TERT telomerase reverse transcriptase gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:23826993|REF_RGD_ID:11038655 12324640 TERT telomerase reverse transcriptase gene DOID:9253 gastrointestinal stromal tumor susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNP: :rs2736098(human) PMID:26372813|REF_RGD_ID:11531869 12324640 TERT telomerase reverse transcriptase gene DOID:9261 nasopharynx carcinoma ISO RGD:1353510 D RGD:9068941 20211217 RGD protein:increased expression:nasopharynx PMID:26621837|REF_RGD_ID:11564613 12324640 TERT telomerase reverse transcriptase gene DOID:9513 plasma cell leukemia ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:11237381|REF_RGD_ID:11038665 12324640 TERT telomerase reverse transcriptase gene DOID:9538 multiple myeloma ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:11237381|REF_RGD_ID:11038665 12324640 TERT telomerase reverse transcriptase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:15621763|REF_RGD_ID:11038667 12324640 TERT telomerase reverse transcriptase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1353510 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, introns:g.1296486C>T, g.12866516A>C, g.1279790G>A (rs2735940, rs2736100, rs10069690) (human) PMID:23066086|REF_RGD_ID:11038654 12324659 UGP2 UDP-glucose pyrophosphorylase 2 gene DOID:0112218 developmental and epileptic encephalopathy 83 ISO RGD:1320978 D RGD:7240710 20200226 OMIM 12324659 UGP2 UDP-glucose pyrophosphorylase 2 gene DOID:0112218 developmental and epileptic encephalopathy 83 ISO RGD:1320978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 83 PMID:25741868|PMID:28492532|PMID:31820119 12324659 UGP2 UDP-glucose pyrophosphorylase 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1320978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12324659 UGP2 UDP-glucose pyrophosphorylase 2 gene DOID:630 genetic disease ISO RGD:1320978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324684 PEX1 peroxisomal biogenesis factor 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1346322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21846392|PMID:22871920|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28446956|PMID:28468868|PMID:28492532|PMID:30362618|PMID:30561787|PMID:31374812|PMID:31831025|PMID:32056211|PMID:32214227|PMID:9398847|PMID:9398848|PMID:9539740 12324684 PEX1 peroxisomal biogenesis factor 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile Refsum disease | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28446956|PMID:28468868|PMID:28492532|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:31319225|PMID:31374812|PMID:31742715|PMID:31831025|PMID:32056211|PMID:32203225|PMID:32214227|PMID:33083013|PMID:33708531|PMID:33955814|PMID:34513757|PMID:34744965|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 12324684 PEX1 peroxisomal biogenesis factor 1 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1346322 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9398847|PMID:9398848|PMID:9539740 12324684 PEX1 peroxisomal biogenesis factor 1 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1346322 D RGD:7240710 20190306 OMIM 12324684 PEX1 peroxisomal biogenesis factor 1 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25326635|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26594346|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28432012|PMID:28446956|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29261186|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31374812|PMID:31742715|PMID:31831025|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32596134|PMID:33083013|PMID:33708531|PMID:33955814|PMID:34513757|PMID:34744965|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 12324684 PEX1 peroxisomal biogenesis factor 1 gene DOID:0080623 Heimler syndrome 1 ISO RGD:1346322 D RGD:7240710 20180130 OMIM 12324684 PEX1 peroxisomal biogenesis factor 1 gene DOID:0080623 Heimler syndrome 1 ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27302843|PMID:27872819|PMID:27882258|PMID:28454995|PMID:28468868|PMID:28492532|PMID:30362618|PMID:30733538|PMID:31374812|PMID:31831025|PMID:32203225|PMID:34513757|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 12324684 PEX1 peroxisomal biogenesis factor 1 gene DOID:0080918 polymicrogyria ISO RGD:1346322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:25741868|PMID:28492532 12324684 PEX1 peroxisomal biogenesis factor 1 gene DOID:0081240 peroxisome biogenesis disorder 1B ISO RGD:1346322 D RGD:7240710 20221005 OMIM 12324684 PEX1 peroxisomal biogenesis factor 1 gene DOID:0081240 peroxisome biogenesis disorder 1B ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27302843|PMID:27353947|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28446956|PMID:28468868|PMID:28492532|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:31374812|PMID:31742715|PMID:31831025|PMID:32056211|PMID:32203225|PMID:32214227|PMID:33708531|PMID:33955814|PMID:34513757|PMID:34744965|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 12324684 PEX1 peroxisomal biogenesis factor 1 gene DOID:0111640 autosomal recessive nonsyndromic deafness 111 ISO RGD:1346322 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 111 PMID:12402331|PMID:16086329|PMID:16141001|PMID:19105186|PMID:21031596|PMID:25525159|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:9398847 12324684 PEX1 peroxisomal biogenesis factor 1 gene DOID:10907 microcephaly ISO RGD:1346322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12324684 PEX1 peroxisomal biogenesis factor 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital retinal blindness PMID:10384394|PMID:10447258|PMID:11389485|PMID:12402331|PMID:15098231|PMID:16141001|PMID:17055079|PMID:19105186|PMID:20301621|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:24503136|PMID:25412400|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27872819|PMID:27882258|PMID:28492532|PMID:30362618|PMID:31374812|PMID:9398847|PMID:9398848 12324684 PEX1 peroxisomal biogenesis factor 1 gene DOID:1826 epilepsy ISO RGD:1346322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12324684 PEX1 peroxisomal biogenesis factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12324684 PEX1 peroxisomal biogenesis factor 1 gene DOID:630 genetic disease ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:19105186|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24503136|PMID:25412400|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27302843|PMID:27872819|PMID:27882258|PMID:28397838|PMID:28454995|PMID:28468868|PMID:28492532|PMID:30362618|PMID:30733538|PMID:31374812|PMID:31831025|PMID:32203225|PMID:33708531|PMID:34513757|PMID:9398847|PMID:9398848 12324684 PEX1 peroxisomal biogenesis factor 1 gene DOID:8501 fundus dystrophy ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16141001|PMID:17055079|PMID:19105186|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:23757202|PMID:24503136|PMID:25412400|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27872819|PMID:27882258|PMID:28468868|PMID:28492532|PMID:30362618|PMID:31374812|PMID:31831025|PMID:9398847|PMID:9398848 12324684 PEX1 peroxisomal biogenesis factor 1 gene DOID:9006420 Zellweger Leukodystrophy ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25326635|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26594346|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28432012|PMID:28446956|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29261186|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31374812|PMID:31742715|PMID:31831025|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32596134|PMID:33083013|PMID:33708531|PMID:33955814|PMID:34513757|PMID:34744965|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 12324684 PEX1 peroxisomal biogenesis factor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1346322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 12324684 PEX1 peroxisomal biogenesis factor 1 gene DOID:905 Zellweger syndrome ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25326635|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26594346|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28432012|PMID:28446956|PMID:28454995|PMID:28468868|PMID:28492532|PMID:28857144|PMID:29261186|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31319225|PMID:31374812|PMID:31628608|PMID:31742715|PMID:31831025|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32596134|PMID:32866347|PMID:33083013|PMID:33240318|PMID:33708531|PMID:33726816|PMID:33955814|PMID:34513757|PMID:34744965|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 12324684 PEX1 peroxisomal biogenesis factor 1 gene DOID:906 peroxisomal disease ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Peroxisomal disorder PMID:10384394|PMID:10447258|PMID:11389485|PMID:12402331|PMID:15098231|PMID:16141001|PMID:17055079|PMID:19105186|PMID:20301621|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:24503136|PMID:25412400|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27872819|PMID:27882258|PMID:28492532|PMID:30362618|PMID:31374812|PMID:9398847|PMID:9398848 12324739 TP53BP1 tumor protein p53 binding protein 1 gene DOID:0080107 microcephaly and chorioretinopathy 3 ISO RGD:1317577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3 PMID:24033266|PMID:25741868|PMID:25817018|PMID:28492532 12324739 TP53BP1 tumor protein p53 binding protein 1 gene DOID:1793 pancreatic cancer ISO RGD:1317578 D RGD:9068941 20200609 RGD PMID:11585747|REF_RGD_ID:2325154 12324739 TP53BP1 tumor protein p53 binding protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1317577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12324739 TP53BP1 tumor protein p53 binding protein 1 gene DOID:3068 glioblastoma ISO RGD:1317577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12324739 TP53BP1 tumor protein p53 binding protein 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12324739 TP53BP1 tumor protein p53 binding protein 1 gene DOID:630 genetic disease ISO RGD:1317577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324739 TP53BP1 tumor protein p53 binding protein 1 gene DOID:6432 pulmonary hypertension ISO RGD:1317577 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:24270264|REF_RGD_ID:9586752 12324739 TP53BP1 tumor protein p53 binding protein 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1317577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12324739 TP53BP1 tumor protein p53 binding protein 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1317577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12324739 TP53BP1 tumor protein p53 binding protein 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1317577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12324739 TP53BP1 tumor protein p53 binding protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1317577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12324739 TP53BP1 tumor protein p53 binding protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1317578 D RGD:9068941 20200609 RGD PMID:12374701|REF_RGD_ID:2325153 12324739 TP53BP1 tumor protein p53 binding protein 1 gene DOID:9256 colorectal cancer ISO RGD:1317577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12324788 USP25 ubiquitin specific peptidase 25 gene DOID:10652 Alzheimer's disease ISO RGD:1319103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 12324788 USP25 ubiquitin specific peptidase 25 gene DOID:630 genetic disease ISO RGD:1319103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324788 USP25 ubiquitin specific peptidase 25 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12324819 EEF1E1 eukaryotic translation elongation factor 1 epsilon 1 gene DOID:10534 stomach cancer ISO RGD:1322308 D RGD:9068941 20200609 RGD protein:decreased expression:stomach: PMID:21789020|REF_RGD_ID:10401218 12324819 EEF1E1 eukaryotic translation elongation factor 1 epsilon 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1322308 D RGD:9068941 20200609 RGD protein:decreased expression:urothelium: PMID:24917520|REF_RGD_ID:10401219 12324819 EEF1E1 eukaryotic translation elongation factor 1 epsilon 1 gene DOID:3911 progeria ISO RGD:1322309 D RGD:9068941 20200609 RGD PMID:20726853|REF_RGD_ID:10401221 12324819 EEF1E1 eukaryotic translation elongation factor 1 epsilon 1 gene DOID:630 genetic disease ISO RGD:1322308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324819 EEF1E1 eukaryotic translation elongation factor 1 epsilon 1 gene DOID:9256 colorectal cancer ISO RGD:1322308 D RGD:9068941 20200609 RGD protein:decreased expression:colorectum: PMID:21789020|REF_RGD_ID:10401218 12324830 LRWD1 leucine rich repeats and WD repeat domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12324830 LRWD1 leucine rich repeats and WD repeat domain containing 1 gene DOID:630 genetic disease ISO RGD:1603534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324855 DGKZ diacylglycerol kinase zeta gene DOID:0050444 infantile Refsum disease ISO RGD:733860 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 12324855 DGKZ diacylglycerol kinase zeta gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:733860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12324855 DGKZ diacylglycerol kinase zeta gene DOID:1059 intellectual disability ISO RGD:733860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12324855 DGKZ diacylglycerol kinase zeta gene DOID:5844 myocardial infarction ISO RGD:733860 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17071729 12324855 DGKZ diacylglycerol kinase zeta gene DOID:630 genetic disease ISO RGD:733860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12324855 DGKZ diacylglycerol kinase zeta gene DOID:9002669 Hypoxia ISO RGD:70929 D RGD:9068941 20200609 RGD protein:decreased dimerization:hippocampus (rat) PMID:24893663|REF_RGD_ID:9590077 12324855 DGKZ diacylglycerol kinase zeta gene DOID:9008086 Developmental Disabilities ISO RGD:733860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12324855 DGKZ diacylglycerol kinase zeta gene DOID:905 Zellweger syndrome ISO RGD:733860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 12324894 PRDM10 PR/SET domain 10 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1348926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12324894 PRDM10 PR/SET domain 10 gene DOID:5419 schizophrenia ISO RGD:1348926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12324894 PRDM10 PR/SET domain 10 gene DOID:630 genetic disease ISO RGD:1348926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324894 PRDM10 PR/SET domain 10 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12324894 PRDM10 PR/SET domain 10 gene DOID:9007661 Dwarfism ISO RGD:1348926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12324930 OR2C3 olfactory receptor family 2 subfamily C member 3 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1346992 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12324930 OR2C3 olfactory receptor family 2 subfamily C member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1346992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12324930 OR2C3 olfactory receptor family 2 subfamily C member 3 gene DOID:630 genetic disease ISO RGD:1346992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324930 OR2C3 olfactory receptor family 2 subfamily C member 3 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1346992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 12324930 OR2C3 olfactory receptor family 2 subfamily C member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12324933 NAP1L3 nucleosome assembly protein 1 like 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12324933 NAP1L3 nucleosome assembly protein 1 like 3 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1343656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:25741868 12324933 NAP1L3 nucleosome assembly protein 1 like 3 gene DOID:12849 autistic disorder ISO RGD:1343656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12324933 NAP1L3 nucleosome assembly protein 1 like 3 gene DOID:630 genetic disease ISO RGD:1343656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324938 SEC13 SEC13 homolog, nuclear pore and COPII coat complex component gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1344614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 12324938 SEC13 SEC13 homolog, nuclear pore and COPII coat complex component gene DOID:630 genetic disease ISO RGD:1344614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324938 SEC13 SEC13 homolog, nuclear pore and COPII coat complex component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12324938 SEC13 SEC13 homolog, nuclear pore and COPII coat complex component gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1344614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12324954 SS18L2 SS18 like 2 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1347853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 12324954 SS18L2 SS18 like 2 gene DOID:630 genetic disease ISO RGD:1347853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324961 PTH2R parathyroid hormone 2 receptor gene DOID:0050888 syndromic intellectual disability ISO RGD:730965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 12324961 PTH2R parathyroid hormone 2 receptor gene DOID:14557 primary pulmonary hypertension ISO RGD:730965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12324961 PTH2R parathyroid hormone 2 receptor gene DOID:630 genetic disease ISO RGD:730965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324961 PTH2R parathyroid hormone 2 receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12324978 RCAN2 regulator of calcineurin 2 gene DOID:630 genetic disease ISO RGD:69211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324989 LDHD lactate dehydrogenase D gene DOID:2565 macular corneal dystrophy ISO RGD:1317689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 12324989 LDHD lactate dehydrogenase D gene DOID:607 paraplegia ISO RGD:1317689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12324989 LDHD lactate dehydrogenase D gene DOID:630 genetic disease ISO RGD:1317689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12324989 LDHD lactate dehydrogenase D gene DOID:9000653 Lactic Aciduria due to D-Lactic Acid ISO RGD:1317689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lactic aciduria due to D-lactic acid PMID:25741868|PMID:30931947|PMID:31638601 12324989 LDHD lactate dehydrogenase D gene DOID:9000653 Lactic Aciduria due to D-Lactic Acid susceptibility ISO RGD:1317689 D RGD:7240710 20200520 OMIM 12325004 FFAR1 free fatty acid receptor 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:736481 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12325004 FFAR1 free fatty acid receptor 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:736481 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12325004 FFAR1 free fatty acid receptor 1 gene DOID:543 dystonia ISO RGD:736481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12325004 FFAR1 free fatty acid receptor 1 gene DOID:630 genetic disease ISO RGD:736481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325004 FFAR1 free fatty acid receptor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736481 D RGD:9068941 20211015 RGD PMID:19758793|REF_RGD_ID:2315761 12325004 FFAR1 free fatty acid receptor 1 gene DOID:9352 type 2 diabetes mellitus ameliorates ISO RGD:736481 D RGD:9068941 20211015 RGD PMID:19401434|REF_RGD_ID:150517551 12325009 LOC100683099 UL16-binding protein 1 gene DOID:630 genetic disease ISO RGD:1353152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325009 LOC100683099 UL16-binding protein 1 gene DOID:986 alopecia areata ISO RGD:1353152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20596022 12325019 TMEM216 transmembrane protein 216 gene DOID:0050777 Joubert syndrome ISO RGD:1602714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:17576681|PMID:18414213|PMID:20036350|PMID:20301500|PMID:20512146|PMID:21068128|PMID:22282472|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26673778|PMID:28492532|PMID:28497568|PMID:9536098 12325019 TMEM216 transmembrane protein 216 gene DOID:0050778 Meckel syndrome ISO RGD:1602714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:28492532 12325019 TMEM216 transmembrane protein 216 gene DOID:0070116 Meckel syndrome 2 ISO RGD:1602714 D RGD:7240710 20180130 OMIM 12325019 TMEM216 transmembrane protein 216 gene DOID:0070116 Meckel syndrome 2 ISO RGD:1602714 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 2 PMID:16199547|PMID:18414213|PMID:20036350|PMID:20301500|PMID:20512146|PMID:21068128|PMID:22282472|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26673778|PMID:28492532|PMID:28497568 12325019 TMEM216 transmembrane protein 216 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12325019 TMEM216 transmembrane protein 216 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:18414213|PMID:20036350|PMID:20301500|PMID:20512146|PMID:21068128|PMID:22282472|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26673778|PMID:28492532|PMID:28497568 12325019 TMEM216 transmembrane protein 216 gene DOID:0110988 Joubert Syndrome 2 ISO RGD:1602714 D RGD:7240710 20180130 OMIM 12325019 TMEM216 transmembrane protein 216 gene DOID:0110988 Joubert Syndrome 2 ISO RGD:1602714 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cerebellooculorenal syndrome 2 | ClinVar Annotator: match by term: Joubert syndrome 2 PMID:16199547|PMID:18414213|PMID:20036350|PMID:20301500|PMID:20512146|PMID:21068128|PMID:22282472|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26673778|PMID:28492532|PMID:28497568 12325019 TMEM216 transmembrane protein 216 gene DOID:1059 intellectual disability ISO RGD:1602714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12325019 TMEM216 transmembrane protein 216 gene DOID:630 genetic disease ISO RGD:1602714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20036350|PMID:20301500|PMID:20512146|PMID:22282472|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26673778|PMID:28492532 12325019 TMEM216 transmembrane protein 216 gene DOID:9006534 Nervous System Malformations ISO RGD:1602714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:20036350|PMID:20512146|PMID:25741868|PMID:26092869|PMID:26673778|PMID:28492532 12325071 LOC102156778 bone marrow proteoglycan-like gene DOID:0060041 autism spectrum disorder ISO RGD:737332 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12325071 LOC102156778 bone marrow proteoglycan-like gene DOID:1059 intellectual disability ISO RGD:737332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12325071 LOC102156778 bone marrow proteoglycan-like gene DOID:1080 filariasis ISO RGD:737333 D RGD:9068941 20211224 RGD PMID:24626328|REF_RGD_ID:40903014 12325071 LOC102156778 bone marrow proteoglycan-like gene DOID:12140 Chagas disease ISO RGD:737332 D RGD:9068941 20211224 RGD mRNA:increased expression:plancenta (human) PMID:29545200|REF_RGD_ID:40902989 12325071 LOC102156778 bone marrow proteoglycan-like gene DOID:1725 peritoneum cancer severity ISO RGD:737332 D RGD:9068941 20211224 RGD associated with colorectal cancer;protein:decreased expression:colorectum, eosinophil (human) PMID:28439450|REF_RGD_ID:40902993 12325071 LOC102156778 bone marrow proteoglycan-like gene DOID:2841 asthma ISO RGD:737332 D RGD:9068941 20211224 RGD associated with cough;protein:increased expression:sputum: PMID:22022864|REF_RGD_ID:13506944 12325071 LOC102156778 bone marrow proteoglycan-like gene DOID:2841 asthma disease_progression ISO RGD:737332 D RGD:9068941 20211224 RGD associated with viral infection;mRNA:increased expression:sputum: PMID:24450586|REF_RGD_ID:13506943 12325071 LOC102156778 bone marrow proteoglycan-like gene DOID:2841 asthma no_association ISO RGD:737333 D RGD:9068941 20211224 RGD PMID:11067904|REF_RGD_ID:13506942 12325071 LOC102156778 bone marrow proteoglycan-like gene DOID:2841 asthma severity ISO RGD:737332 D RGD:9068941 20211224 RGD mRNA:increased expression:eosinophil: PMID:16982448|REF_RGD_ID:13506941 12325071 LOC102156778 bone marrow proteoglycan-like gene DOID:630 genetic disease ISO RGD:737332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325071 LOC102156778 bone marrow proteoglycan-like gene DOID:9006771 Chronic Rhinosinusitis disease_progression ISO RGD:737332 D RGD:9068941 20211224 RGD associated with Nasal Polyps; PMID:24450586|REF_RGD_ID:13506943 12325071 LOC102156778 bone marrow proteoglycan-like gene DOID:9970 obesity ISO RGD:737332 D RGD:9068941 20211224 RGD mRNA:decreased expression:placenta (human) PMID:28125591|REF_RGD_ID:40902990 12325097 ICOS inducible T cell costimulator gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1344621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 12325097 ICOS inducible T cell costimulator gene DOID:0060025 immunoglobulin alpha deficiency susceptibility ISO RGD:1344621 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :rs4521021,rs10172036(human) PMID:19020530|REF_RGD_ID:11344917 12325097 ICOS inducible T cell costimulator gene DOID:0060180 colitis ISO RGD:620123 D RGD:9068941 20200609 RGD protein:increased expression:T-cell PMID:14731127|REF_RGD_ID:1624274 12325097 ICOS inducible T cell costimulator gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1344621 D RGD:7240710 20190710 OMIM 12325097 ICOS inducible T cell costimulator gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1344621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:11956294|PMID:12353035|PMID:12577056|PMID:15507387|PMID:16199547|PMID:17576681|PMID:19380800|PMID:20817864|PMID:24033266|PMID:25213377|PMID:25329329|PMID:25741868|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257|PMID:31858365|PMID:32499645|PMID:9536098 12325097 ICOS inducible T cell costimulator gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1344621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12325097 ICOS inducible T cell costimulator gene DOID:10608 celiac disease susceptibility ISO RGD:1344621 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :rs10932037(human) PMID:19020530|REF_RGD_ID:11344917 12325097 ICOS inducible T cell costimulator gene DOID:12177 common variable immunodeficiency ISO RGD:1344621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12325097 ICOS inducible T cell costimulator gene DOID:12177 common variable immunodeficiency ISO RGD:732863 D RGD:9068941 20220825 MouseDO OMIM:240500 | OMIM:607594 | OMIM:613493 | OMIM:613494 | OMIM:613495 | OMIM:613496 | OMIM:614699 | OMIM:614700 | OMIM:615577 | OMIM:615767 12325097 ICOS inducible T cell costimulator gene DOID:13141 uveitis ISO RGD:620123 D RGD:9068941 20200609 RGD protein:increased expression:spleen, lymph node, retina PMID:16601981|REF_RGD_ID:1624269 12325097 ICOS inducible T cell costimulator gene DOID:14557 primary pulmonary hypertension ISO RGD:1344621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12325097 ICOS inducible T cell costimulator gene DOID:2349 arteriosclerosis ISO RGD:732863 D RGD:9068941 20200609 RGD PMID:17060381|REF_RGD_ID:1624268 12325097 ICOS inducible T cell costimulator gene DOID:612 primary immunodeficiency disease ISO RGD:1344621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:11343122|PMID:11956294|PMID:12577056|PMID:16199547|PMID:19380800|PMID:20817864|PMID:25741868|PMID:28492532|PMID:31858365|PMID:32499645 12325097 ICOS inducible T cell costimulator gene DOID:630 genetic disease ISO RGD:1344621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12325097 ICOS inducible T cell costimulator gene DOID:820 myocarditis ISO RGD:620123 D RGD:9068941 20200609 RGD PMID:12829180|REF_RGD_ID:1624275 12325097 ICOS inducible T cell costimulator gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1344621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12325097 ICOS inducible T cell costimulator gene DOID:9002823 Gram-Positive Bacterial Infections ISO RGD:732863 D RGD:9068941 20200609 RGD PMID:12421962|REF_RGD_ID:1624276 12325097 ICOS inducible T cell costimulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12325097 ICOS inducible T cell costimulator gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1344621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12325106 TTC38 tetratricopeptide repeat domain 38 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1602885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12325106 TTC38 tetratricopeptide repeat domain 38 gene DOID:1059 intellectual disability ISO RGD:1602885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12325106 TTC38 tetratricopeptide repeat domain 38 gene DOID:630 genetic disease ISO RGD:1602885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325124 SKP1 S-phase kinase associated protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347276 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12325124 SKP1 S-phase kinase associated protein 1 gene DOID:630 genetic disease ISO RGD:1347276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325124 SKP1 S-phase kinase associated protein 1 gene DOID:9003318 Keratoconus 1 ISO RGD:1347276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 1 12325124 SKP1 S-phase kinase associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12325124 SKP1 S-phase kinase associated protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347276 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12325134 METTL15 methyltransferase like 15 gene DOID:1059 intellectual disability ISO RGD:1604216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12325134 METTL15 methyltransferase like 15 gene DOID:630 genetic disease ISO RGD:1604216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325154 GTPBP4 GTP binding protein 4 gene DOID:630 genetic disease ISO RGD:732875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325154 GTPBP4 GTP binding protein 4 gene DOID:783 end stage renal disease ISO RGD:620783 D RGD:9068941 20200609 RGD PMID:11316846|REF_RGD_ID:632611 12325175 GNPDA1 glucosamine-6-phosphate deaminase 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349274 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12325175 GNPDA1 glucosamine-6-phosphate deaminase 1 gene DOID:0080600 COVID-19 ISO RGD:1349274 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12325175 GNPDA1 glucosamine-6-phosphate deaminase 1 gene DOID:630 genetic disease ISO RGD:1349274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325175 GNPDA1 glucosamine-6-phosphate deaminase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12325175 GNPDA1 glucosamine-6-phosphate deaminase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12325175 GNPDA1 glucosamine-6-phosphate deaminase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349274 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12325188 UCHL5 ubiquitin C-terminal hydrolase L5 gene DOID:1540 parathyroid carcinoma ISO RGD:1313432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12325188 UCHL5 ubiquitin C-terminal hydrolase L5 gene DOID:630 genetic disease ISO RGD:1313432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325188 UCHL5 ubiquitin C-terminal hydrolase L5 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1305414 D RGD:9068941 20200609 RGD protein:decreased expression:liver, cytosolic proteasome complex PMID:19609968|REF_RGD_ID:9480236 12325188 UCHL5 ubiquitin C-terminal hydrolase L5 gene DOID:9001390 Testis Reperfusion Injury ISO RGD:1305414 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:testis PMID:24189580|REF_RGD_ID:9588240 12325188 UCHL5 ubiquitin C-terminal hydrolase L5 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1305414 D RGD:9068941 20200609 RGD PMID:23500140|REF_RGD_ID:9588239 12325188 UCHL5 ubiquitin C-terminal hydrolase L5 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1313432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 12325188 UCHL5 ubiquitin C-terminal hydrolase L5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12325205 TARS1 threonyl-tRNA synthetase 1 gene DOID:0111870 nonphotosensitive trichothiodystrophy 7 ISO RGD:1347839 D RGD:7240710 20190911 OMIM 12325205 TARS1 threonyl-tRNA synthetase 1 gene DOID:0111870 nonphotosensitive trichothiodystrophy 7 ISO RGD:1347839 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 7, nonphotosensitive PMID:25741868|PMID:28492532|PMID:31374204 12325205 TARS1 threonyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1347839 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325205 TARS1 threonyl-tRNA synthetase 1 gene DOID:633 myositis ISO RGD:1347839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23425968 12325205 TARS1 threonyl-tRNA synthetase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12325228 SPSB1 splA/ryanodine receptor domain and SOCS box containing 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12325228 SPSB1 splA/ryanodine receptor domain and SOCS box containing 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604788 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12325228 SPSB1 splA/ryanodine receptor domain and SOCS box containing 1 gene DOID:630 genetic disease ISO RGD:1604788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325228 SPSB1 splA/ryanodine receptor domain and SOCS box containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12325238 GTF2I general transcription factor IIi gene DOID:0060041 autism spectrum disorder ISO RGD:1347498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12325238 GTF2I general transcription factor IIi gene DOID:0060224 atrial fibrillation ISO RGD:1347498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12325238 GTF2I general transcription factor IIi gene DOID:10923 sickle cell anemia ISO RGD:1347498 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12325238 GTF2I general transcription factor IIi gene DOID:12849 autistic disorder ISO RGD:1347498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12325238 GTF2I general transcription factor IIi gene DOID:12894 Sjogren's syndrome ISO RGD:1347498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097066 12325238 GTF2I general transcription factor IIi gene DOID:1928 Williams-Beuren syndrome ISO RGD:1347498 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 12325238 GTF2I general transcription factor IIi gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12325238 GTF2I general transcription factor IIi gene DOID:5419 schizophrenia ISO RGD:1347498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12325238 GTF2I general transcription factor IIi gene DOID:630 genetic disease ISO RGD:1347498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325238 GTF2I general transcription factor IIi gene DOID:8445 intestinal volvulus ISO RGD:1347498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12325238 GTF2I general transcription factor IIi gene DOID:9000048 Thymic Epithelial Tumor ISO RGD:1347498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24974848 12325238 GTF2I general transcription factor IIi gene DOID:9002775 Cognitive Dysfunction ISO RGD:1347498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:32349160 12325238 GTF2I general transcription factor IIi gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12325238 GTF2I general transcription factor IIi gene DOID:9008419 Volvulus Of Midgut ISO RGD:1347498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12325238 GTF2I general transcription factor IIi gene DOID:9119 acute myeloid leukemia ISO RGD:1347498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 12325293 STUB1 STIP1 homology and U-box containing protein 1 gene DOID:0080029 autosomal recessive spinocerebellar ataxia 16 ISO RGD:1314629 D RGD:7240710 20180130 OMIM 12325293 STUB1 STIP1 homology and U-box containing protein 1 gene DOID:0080029 autosomal recessive spinocerebellar ataxia 16 ISO RGD:1314629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 PMID:24113144|PMID:24312598|PMID:24719489|PMID:24742043|PMID:25258038|PMID:25741868|PMID:28193272|PMID:28193273|PMID:28396517|PMID:28444220|PMID:28492532|PMID:29317501|PMID:29915382|PMID:31571321|PMID:32367277|PMID:33097556|PMID:33417001|PMID:34234304 12325293 STUB1 STIP1 homology and U-box containing protein 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1314629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12325293 STUB1 STIP1 homology and U-box containing protein 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1314629 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12325293 STUB1 STIP1 homology and U-box containing protein 1 gene DOID:0111746 cerebellar ataxia type 48 ISO RGD:1314629 D RGD:7240710 20190315 OMIM 12325293 STUB1 STIP1 homology and U-box containing protein 1 gene DOID:0111746 cerebellar ataxia type 48 ISO RGD:1314629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 48 PMID:24719489|PMID:25258038|PMID:25741868|PMID:28492532|PMID:30381368|PMID:31126790|PMID:31571321|PMID:32488064|PMID:34070858 12325293 STUB1 STIP1 homology and U-box containing protein 1 gene DOID:1826 epilepsy ISO RGD:1314629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12325293 STUB1 STIP1 homology and U-box containing protein 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1314629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12325293 STUB1 STIP1 homology and U-box containing protein 1 gene DOID:630 genetic disease ISO RGD:1314629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24719489|PMID:25741868|PMID:28193272|PMID:28193273|PMID:28396517|PMID:28444220|PMID:28492532|PMID:29317501|PMID:29915382|PMID:32367277|PMID:33097556|PMID:33417001|PMID:34234304 12325293 STUB1 STIP1 homology and U-box containing protein 1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1314629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12325303 ADIPOR1 adiponectin receptor 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1344545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12325303 ADIPOR1 adiponectin receptor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1344545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12325303 ADIPOR1 adiponectin receptor 1 gene DOID:1612 breast cancer ISO RGD:1344545 D RGD:9068941 20200609 RGD DNA:SNPs: :rs7539542 (human) PMID:18451143|REF_RGD_ID:8694415 12325303 ADIPOR1 adiponectin receptor 1 gene DOID:1612 breast cancer no_association ISO RGD:1344545 D RGD:9068941 20200609 RGD PMID:19723917|REF_RGD_ID:8694417 12325303 ADIPOR1 adiponectin receptor 1 gene DOID:2018 hyperinsulinism ISO RGD:1303151 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle cell PMID:16326833|REF_RGD_ID:1625765 12325303 ADIPOR1 adiponectin receptor 1 gene DOID:2526 prostate adenocarcinoma susceptibility ISO RGD:1344545 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:intron, exon: (rs12733285, rs7539452) (human) PMID:21397927|REF_RGD_ID:8694410 12325303 ADIPOR1 adiponectin receptor 1 gene DOID:4195 hyperglycemia ISO RGD:1303151 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle cell PMID:16326833|REF_RGD_ID:1625765 12325303 ADIPOR1 adiponectin receptor 1 gene DOID:4448 macular degeneration ISO RGD:1344545 D RGD:9068941 20200609 RGD DNA:SNP:intron:c.-95+191A>G (rs10753929) (human) PMID:22387454|REF_RGD_ID:8694465 12325303 ADIPOR1 adiponectin receptor 1 gene DOID:5844 myocardial infarction ISO RGD:1332010 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart left ventricle PMID:16415076|REF_RGD_ID:1625764 12325303 ADIPOR1 adiponectin receptor 1 gene DOID:630 genetic disease ISO RGD:1344545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325303 ADIPOR1 adiponectin receptor 1 gene DOID:783 end stage renal disease ISO RGD:1303151 D RGD:9068941 20200609 RGD PMID:24028144|REF_RGD_ID:8695941 12325303 ADIPOR1 adiponectin receptor 1 gene DOID:783 end stage renal disease ISO RGD:1344545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19539174 12325303 ADIPOR1 adiponectin receptor 1 gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:1303151 D RGD:9068941 20200609 RGD PMID:23533720|REF_RGD_ID:8695947 12325303 ADIPOR1 adiponectin receptor 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1344545 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12325303 ADIPOR1 adiponectin receptor 1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:1303151 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type2;mRNA, protein:decreased expression:heart, serum PMID:24669271|REF_RGD_ID:8695938 12325303 ADIPOR1 adiponectin receptor 1 gene DOID:9007456 Female Infertility ISO RGD:1344545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22265003 12325303 ADIPOR1 adiponectin receptor 1 gene DOID:9007692 Insulin Resistance resistance ISO RGD:1344545 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :-3881T>C PMID:17285539|REF_RGD_ID:1625762 12325303 ADIPOR1 adiponectin receptor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12325303 ADIPOR1 adiponectin receptor 1 gene DOID:9970 obesity ISO RGD:1303151 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:16483885|REF_RGD_ID:1625763 12325303 ADIPOR1 adiponectin receptor 1 gene DOID:9970 obesity ISO RGD:1344545 D RGD:9068941 20200609 RGD mRNA:decreased expression:lymphocyte PMID:17391161|REF_RGD_ID:1625761 12325320 PTPRM protein tyrosine phosphatase receptor type M gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1347501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12325320 PTPRM protein tyrosine phosphatase receptor type M gene DOID:1059 intellectual disability ISO RGD:1347501 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12325320 PTPRM protein tyrosine phosphatase receptor type M gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:1347501 D RGD:9068941 20220303 RGD protein:decreased expression:blood (human) PMID:32663515|REF_RGD_ID:151660329 12325320 PTPRM protein tyrosine phosphatase receptor type M gene DOID:5419 schizophrenia ISO RGD:1347501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12325320 PTPRM protein tyrosine phosphatase receptor type M gene DOID:630 genetic disease ISO RGD:1347501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325358 FBLN5 fibulin 5 gene DOID:0070135 autosomal recessive cutis laxa type IA ISO RGD:736145 D RGD:7240710 20180130 OMIM 12325358 FBLN5 fibulin 5 gene DOID:0070135 autosomal recessive cutis laxa type IA ISO RGD:736145 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1A PMID:12189163|PMID:16374472|PMID:16652333|PMID:16691202|PMID:17035250|PMID:18185537|PMID:20007835|PMID:20599547|PMID:21576112|PMID:22829427|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29653220|PMID:3232707 12325358 FBLN5 fibulin 5 gene DOID:0070136 autosomal dominant cutis laxa 2 ISO RGD:736145 D RGD:7240710 20180130 OMIM 12325358 FBLN5 fibulin 5 gene DOID:0070136 autosomal dominant cutis laxa 2 ISO RGD:736145 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 2 PMID:12618961|PMID:21576112|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29653220 12325358 FBLN5 fibulin 5 gene DOID:0070142 autosomal dominant cutis laxa ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12325358 FBLN5 fibulin 5 gene DOID:0080054 achondrogenesis type IA ISO RGD:736145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12325358 FBLN5 fibulin 5 gene DOID:11162 respiratory failure ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 12325358 FBLN5 fibulin 5 gene DOID:11394 adult respiratory distress syndrome ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12325358 FBLN5 fibulin 5 gene DOID:12377 spinal muscular atrophy ISO RGD:736145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proximal spinal muscular atrophy 12325358 FBLN5 fibulin 5 gene DOID:178 vascular disease ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 12325358 FBLN5 fibulin 5 gene DOID:2349 arteriosclerosis ISO RGD:736146 D RGD:9068941 20200609 RGD PMID:10428823|REF_RGD_ID:69830 12325358 FBLN5 fibulin 5 gene DOID:3144 cutis laxa ISO RGD:736145 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cutis Laxa, Dominant/Recessive | ClinVar Annotator: match by term: Cutis laxa PMID:15269314|PMID:16374472|PMID:16652333|PMID:17035250|PMID:19194475|PMID:20007835|PMID:20599547|PMID:21576112|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28765615|PMID:29653220 12325358 FBLN5 fibulin 5 gene DOID:4448 macular degeneration ISO RGD:736145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:24033266|PMID:28492532 12325358 FBLN5 fibulin 5 gene DOID:6000 congestive heart failure ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 12325358 FBLN5 fibulin 5 gene DOID:630 genetic disease ISO RGD:736145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12325358 FBLN5 fibulin 5 gene DOID:6432 pulmonary hypertension ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 12325358 FBLN5 fibulin 5 gene DOID:7319 axonal neuropathy ISO RGD:736145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy PMID:25741868|PMID:28492532 12325358 FBLN5 fibulin 5 gene DOID:8501 fundus dystrophy ISO RGD:736145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 12325358 FBLN5 fibulin 5 gene DOID:9000848 Charcot-Marie-Tooth Disease Type 1H ISO RGD:736145 D RGD:7240710 20220316 OMIM 12325358 FBLN5 fibulin 5 gene DOID:9000848 Charcot-Marie-Tooth Disease Type 1H ISO RGD:736145 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1H | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION PMID:16652333|PMID:21576112|PMID:23328402|PMID:25741868|PMID:28332470|PMID:28492532|PMID:29653220|PMID:31945625|PMID:32757322 12325358 FBLN5 fibulin 5 gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 12325358 FBLN5 fibulin 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17929269 12325358 FBLN5 fibulin 5 gene DOID:9002884 Emphysema ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 12325358 FBLN5 fibulin 5 gene DOID:9007916 Age Related Macular Degeneration 3 ISO RGD:736145 D RGD:7240710 20180130 OMIM 12325358 FBLN5 fibulin 5 gene DOID:9007916 Age Related Macular Degeneration 3 ISO RGD:736145 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Macular degeneration, age-related, 3 | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION PMID:15269314|PMID:16374472|PMID:16652333|PMID:17035250|PMID:19194475|PMID:20007835|PMID:20599547|PMID:21576112|PMID:23328402|PMID:24033266|PMID:25741868|PMID:28332470|PMID:28492532|PMID:28765615|PMID:29653220|PMID:31945625|PMID:32757322 12325358 FBLN5 fibulin 5 gene DOID:9008680 Respiratory Tract Infections ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 12325373 MEIOC meiosis specific with coiled-coil domain gene DOID:630 genetic disease ISO RGD:1605246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325394 MOV10 Mov10 RISC complex RNA helicase gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1321654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 12325394 MOV10 Mov10 RISC complex RNA helicase gene DOID:10763 hypertension susceptibility ISO RGD:1321654 D RGD:9068941 20200609 RGD DNA:SNP: :rs2932538(human) PMID:24338417|REF_RGD_ID:13513987 12325394 MOV10 Mov10 RISC complex RNA helicase gene DOID:13938 amenorrhea ISO RGD:1321654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12325394 MOV10 Mov10 RISC complex RNA helicase gene DOID:5426 primary ovarian insufficiency ISO RGD:1321654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12325394 MOV10 Mov10 RISC complex RNA helicase gene DOID:630 genetic disease ISO RGD:1321654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325449 MIA MIA SH3 domain containing gene DOID:1339 Diamond-Blackfan anemia ISO RGD:732144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12325449 MIA MIA SH3 domain containing gene DOID:1342 congenital hypoplastic anemia ISO RGD:732144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12325449 MIA MIA SH3 domain containing gene DOID:2340 craniosynostosis ISO RGD:732144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12325449 MIA MIA SH3 domain containing gene DOID:630 genetic disease ISO RGD:732144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325449 MIA MIA SH3 domain containing gene DOID:9000217 Stomach Neoplasms ISO RGD:732144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12325449 MIA MIA SH3 domain containing gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:732144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12325449 MIA MIA SH3 domain containing gene DOID:9003049 Femur Head Necrosis ISO RGD:620883 D RGD:9068941 20200609 RGD mRNA:increased expression:head of femur PMID:20579363|REF_RGD_ID:10046018 12325449 MIA MIA SH3 domain containing gene DOID:9269 maple syrup urine disease ISO RGD:732144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12325462 LOC485275 olfactory receptor 52D1 gene DOID:630 genetic disease ISO RGD:1344092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325467 UNG uracil DNA glycosylase gene DOID:0060759 immunodeficiency with hyper IgM type 5 ISO RGD:1316252 D RGD:7240710 20180725 OMIM 12325467 UNG uracil DNA glycosylase gene DOID:0060759 immunodeficiency with hyper IgM type 5 ISO RGD:1316252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 5 PMID:12958596|PMID:15967827|PMID:16199547|PMID:17029639|PMID:17576681|PMID:21167187|PMID:22252118|PMID:22521144|PMID:23545420|PMID:25741868|PMID:28492532|PMID:29546359|PMID:9536098 12325467 UNG uracil DNA glycosylase gene DOID:0080544 hyper IgM syndrome ISO RGD:1316252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12325467 UNG uracil DNA glycosylase gene DOID:11702 dysgammaglobulinemia ISO RGD:1316252 D RGD:9068941 20200609 RGD Hyper-IgM syndrome 5, OMIM:608106 PMID:12958596|REF_RGD_ID:1599705 12325467 UNG uracil DNA glycosylase gene DOID:2717 Bloom syndrome ISO RGD:1316252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2106500 12325467 UNG uracil DNA glycosylase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12325467 UNG uracil DNA glycosylase gene DOID:630 genetic disease ISO RGD:1316252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12325467 UNG uracil DNA glycosylase gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1316252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome 12325467 UNG uracil DNA glycosylase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 12325477 LMAN1L lectin, mannose binding 1 like gene DOID:10283 prostate cancer ISO RGD:1321499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12325477 LMAN1L lectin, mannose binding 1 like gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1321499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12325477 LMAN1L lectin, mannose binding 1 like gene DOID:2717 Bloom syndrome ISO RGD:1321499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12325477 LMAN1L lectin, mannose binding 1 like gene DOID:5419 schizophrenia ISO RGD:1321499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12325477 LMAN1L lectin, mannose binding 1 like gene DOID:630 genetic disease ISO RGD:1321499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325477 LMAN1L lectin, mannose binding 1 like gene DOID:9256 colorectal cancer ISO RGD:1321499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 12325536 UBASH3A ubiquitin associated and SH3 domain containing A gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1321132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12325536 UBASH3A ubiquitin associated and SH3 domain containing A gene DOID:0110266 cataract 9 multiple types ISO RGD:1321132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12325536 UBASH3A ubiquitin associated and SH3 domain containing A gene DOID:14268 sclerosing cholangitis ISO RGD:1321132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27992413 12325536 UBASH3A ubiquitin associated and SH3 domain containing A gene DOID:630 genetic disease ISO RGD:1321132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325536 UBASH3A ubiquitin associated and SH3 domain containing A gene DOID:891 progressive myoclonus epilepsy ISO RGD:1321132 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12325536 UBASH3A ubiquitin associated and SH3 domain containing A gene DOID:9263 homocystinuria ISO RGD:1321132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12325536 UBASH3A ubiquitin associated and SH3 domain containing A gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12325558 MAPK7 mitogen-activated protein kinase 7 gene DOID:0050777 Joubert syndrome ISO RGD:1345735 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12325558 MAPK7 mitogen-activated protein kinase 7 gene DOID:0060250 idiopathic scoliosis ISO RGD:1345735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 PMID:28714182 12325558 MAPK7 mitogen-activated protein kinase 7 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1345735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12325558 MAPK7 mitogen-activated protein kinase 7 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1345735 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12325558 MAPK7 mitogen-activated protein kinase 7 gene DOID:10283 prostate cancer ISO RGD:1345735 D RGD:9068941 20200609 RGD PMID:18071319|REF_RGD_ID:2298796 12325558 MAPK7 mitogen-activated protein kinase 7 gene DOID:12849 autistic disorder ISO RGD:1345735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12325558 MAPK7 mitogen-activated protein kinase 7 gene DOID:630 genetic disease ISO RGD:1345735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325558 MAPK7 mitogen-activated protein kinase 7 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1345735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 12325558 MAPK7 mitogen-activated protein kinase 7 gene DOID:9002170 Experimental Neoplasms ISO RGD:1345735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29507229 12325558 MAPK7 mitogen-activated protein kinase 7 gene DOID:9002211 Hyperalgesia ISO RGD:1345735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17237256 12325569 EME1 essential meiotic structure-specific endonuclease 1 gene DOID:630 genetic disease ISO RGD:1319200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325590 OR3A1 olfactory receptor family 3 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1347194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325594 UBE2I ubiquitin conjugating enzyme E2 I gene DOID:0080325 tuberous sclerosis 2 ISO RGD:734464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12325594 UBE2I ubiquitin conjugating enzyme E2 I gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:734464 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12325594 UBE2I ubiquitin conjugating enzyme E2 I gene DOID:11054 urinary bladder cancer ISO RGD:734464 D RGD:9068941 20200609 RGD radiation-induced dysplasia and carcinoma in situ; protein:increased expression:bladder urothelium:increased in Chernobyl victims vs controls from uncontaminated areas of the Ukraine (p<0.001) PMID:16407042|REF_RGD_ID:2301343 12325594 UBE2I ubiquitin conjugating enzyme E2 I gene DOID:12930 dilated cardiomyopathy ISO RGD:734464 D RGD:9068941 20200609 RGD mRNA:increased expression:left ventricle PMID:23360823|REF_RGD_ID:13831294 12325594 UBE2I ubiquitin conjugating enzyme E2 I gene DOID:1826 epilepsy ISO RGD:734464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12325594 UBE2I ubiquitin conjugating enzyme E2 I gene DOID:1827 idiopathic generalized epilepsy ISO RGD:734464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12325594 UBE2I ubiquitin conjugating enzyme E2 I gene DOID:2394 ovarian cancer ISO RGD:734464 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:relative to normal ovarian epithelium from the same patient (p<0.01) PMID:15735760|REF_RGD_ID:2301345 12325594 UBE2I ubiquitin conjugating enzyme E2 I gene DOID:305 carcinoma ISO RGD:734464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12325594 UBE2I ubiquitin conjugating enzyme E2 I gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:734464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12325594 UBE2I ubiquitin conjugating enzyme E2 I gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12325594 UBE2I ubiquitin conjugating enzyme E2 I gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734464 D RGD:9068941 20200609 RGD MCF-7 human breast cancer cell tumors grown in nude mice PMID:15735760|REF_RGD_ID:2301345 12325612 TNFRSF9 TNF receptor superfamily member 9 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1312546 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12325612 TNFRSF9 TNF receptor superfamily member 9 gene DOID:0080855 Parkinsonism ISO RGD:1312546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Juvenile 12325612 TNFRSF9 TNF receptor superfamily member 9 gene DOID:10608 celiac disease ISO RGD:1312546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 12325612 TNFRSF9 TNF receptor superfamily member 9 gene DOID:12930 dilated cardiomyopathy ISO RGD:1312546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 12325612 TNFRSF9 TNF receptor superfamily member 9 gene DOID:630 genetic disease ISO RGD:1312546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12325612 TNFRSF9 TNF receptor superfamily member 9 gene DOID:820 myocarditis ISO RGD:1312546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 12325612 TNFRSF9 TNF receptor superfamily member 9 gene DOID:9000217 Stomach Neoplasms ISO RGD:1312546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 12325612 TNFRSF9 TNF receptor superfamily member 9 gene DOID:9002265 Kidney Neoplasms ISO RGD:1312546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 12325612 TNFRSF9 TNF receptor superfamily member 9 gene DOID:9002928 Colonic Neoplasms ISO RGD:1312546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 12325612 TNFRSF9 TNF receptor superfamily member 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12325612 TNFRSF9 TNF receptor superfamily member 9 gene DOID:9009044 Immunodeficiency 109 ISO RGD:1312546 D RGD:7240710 20230505 OMIM 12325612 TNFRSF9 TNF receptor superfamily member 9 gene DOID:9009044 Immunodeficiency 109 ISO RGD:1312546 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 109 with lymphoproliferation PMID:30872117 12325612 TNFRSF9 TNF receptor superfamily member 9 gene DOID:934 viral infectious disease ISO RGD:1312546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 12325624 DYNLL1 dynein light chain LC8-type 1 gene DOID:0060319 cardiac arrest ISO RGD:619866 D RGD:9068941 20200609 RGD PMID:9522364|REF_RGD_ID:13208524 12325624 DYNLL1 dynein light chain LC8-type 1 gene DOID:0080600 COVID-19 ISO RGD:731010 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12325624 DYNLL1 dynein light chain LC8-type 1 gene DOID:10763 hypertension treatment ISO RGD:619866 D RGD:9068941 20200609 RGD PMID:24035314|REF_RGD_ID:13207430 12325624 DYNLL1 dynein light chain LC8-type 1 gene DOID:1875 impotence treatment ISO RGD:619866 D RGD:9068941 20200609 RGD PMID:17433082|REF_RGD_ID:13207433 12325624 DYNLL1 dynein light chain LC8-type 1 gene DOID:2316 brain ischemia ISO RGD:731010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9522364 12325624 DYNLL1 dynein light chain LC8-type 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:619866 D RGD:9068941 20200609 RGD PMID:9522364|REF_RGD_ID:13208524 12325624 DYNLL1 dynein light chain LC8-type 1 gene DOID:6000 congestive heart failure ISO RGD:619866 D RGD:9068941 20200609 RGD protein:increased expression:paraventricular nucleus PMID:23832698|REF_RGD_ID:7257598 12325634 SLC25A42 solute carrier family 25 member 42 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1604178 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 12325634 SLC25A42 solute carrier family 25 member 42 gene DOID:630 genetic disease ISO RGD:1604178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12325634 SLC25A42 solute carrier family 25 member 42 gene DOID:699 mitochondrial myopathy ISO RGD:1604178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial Myopathies PMID:25741868|PMID:26541337|PMID:29327420|PMID:29923093|PMID:30237576 12325634 SLC25A42 solute carrier family 25 member 42 gene DOID:9007390 Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression ISO RGD:1604178 D RGD:7240710 20190612 OMIM 12325634 SLC25A42 solute carrier family 25 member 42 gene DOID:9007390 Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression ISO RGD:1604178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression PMID:25741868|PMID:26541337|PMID:29327420|PMID:29923093|PMID:30237576 12325634 SLC25A42 solute carrier family 25 member 42 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1604178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12325672 GRIK4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:733741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12325672 GRIK4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:733741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12325672 GRIK4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:0080690 RASopathy ISO RGD:733741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12325672 GRIK4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:733741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12325672 GRIK4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:733741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12325672 GRIK4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:733741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12325672 GRIK4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:733741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12325672 GRIK4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:5419 schizophrenia ISO RGD:733741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12325672 GRIK4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:630 genetic disease ISO RGD:733741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325672 GRIK4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12325672 GRIK4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:9007661 Dwarfism ISO RGD:733741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12325704 ZFP28 ZFP28 zinc finger protein gene DOID:630 genetic disease ISO RGD:1347669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325752 LHX1 LIM homeobox 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 12325752 LHX1 LIM homeobox 1 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:732963 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 12325752 LHX1 LIM homeobox 1 gene DOID:12849 autistic disorder ISO RGD:732963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12325752 LHX1 LIM homeobox 1 gene DOID:5419 schizophrenia ISO RGD:732963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12325752 LHX1 LIM homeobox 1 gene DOID:630 genetic disease ISO RGD:732963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325752 LHX1 LIM homeobox 1 gene DOID:9002739 Female Urogenital Diseases ISO RGD:732963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 12325752 LHX1 LIM homeobox 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12325752 LHX1 LIM homeobox 1 gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:732963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 12325761 CGRRF1 cell growth regulator with ring finger domain 1 gene DOID:0090043 dystonia 5 ISO RGD:733810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:17111153|PMID:19332422|PMID:19491146|PMID:25557619|PMID:28492532|PMID:9667588 12325761 CGRRF1 cell growth regulator with ring finger domain 1 gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:733810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:18252212|PMID:21340693|PMID:28492532 12325761 CGRRF1 cell growth regulator with ring finger domain 1 gene DOID:630 genetic disease ISO RGD:733810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325771 ZNF343 zinc finger protein 343 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1344905 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12325771 ZNF343 zinc finger protein 343 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1344905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12325771 ZNF343 zinc finger protein 343 gene DOID:630 genetic disease ISO RGD:1344905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325843 CKAP5 cytoskeleton associated protein 5 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1605408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12325843 CKAP5 cytoskeleton associated protein 5 gene DOID:10283 prostate cancer ISO RGD:1605408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12325843 CKAP5 cytoskeleton associated protein 5 gene DOID:1059 intellectual disability ISO RGD:1605408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12325843 CKAP5 cytoskeleton associated protein 5 gene DOID:630 genetic disease ISO RGD:1605408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325843 CKAP5 cytoskeleton associated protein 5 gene DOID:9003882 Chromosomal Instability ISO RGD:1605408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24976383 12325843 CKAP5 cytoskeleton associated protein 5 gene DOID:9008692 Aneuploidy ISO RGD:1605408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24976383 12325904 PSMD8 proteasome 26S subunit, non-ATPase 8 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1320403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12325904 PSMD8 proteasome 26S subunit, non-ATPase 8 gene DOID:630 genetic disease ISO RGD:1320403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325915 PARD3 par-3 family cell polarity regulator gene DOID:0060041 autism spectrum disorder ISO RGD:731593 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12325915 PARD3 par-3 family cell polarity regulator gene DOID:0080074 neural tube defect ISO RGD:731593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:27925688 12325915 PARD3 par-3 family cell polarity regulator gene DOID:10283 prostate cancer ISO RGD:731593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12325915 PARD3 par-3 family cell polarity regulator gene DOID:5426 primary ovarian insufficiency ISO RGD:731593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12325915 PARD3 par-3 family cell polarity regulator gene DOID:630 genetic disease ISO RGD:731593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325915 PARD3 par-3 family cell polarity regulator gene DOID:9002304 Prostatic Neoplasms ISO RGD:731593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28319090 12325943 TIMELESS timeless circadian regulator gene DOID:630 genetic disease ISO RGD:731567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325943 TIMELESS timeless circadian regulator gene DOID:9004338 Advanced Sleep Phase Syndrome 4, Familial ISO RGD:731567 D RGD:7240710 20220831 OMIM 12325976 EXOSC3 exosome component 3 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1312357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12325976 EXOSC3 exosome component 3 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1312357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:18414213|PMID:22544365|PMID:23284067|PMID:23975261|PMID:24033266|PMID:24524299|PMID:25741868|PMID:25809939|PMID:28492532|PMID:33462000|PMID:36004024 12325976 EXOSC3 exosome component 3 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1312357 D RGD:7240710 20180130 OMIM 12325976 EXOSC3 exosome component 3 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1312357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1B PMID:18414213|PMID:22544365|PMID:23284067|PMID:23564332|PMID:23883322|PMID:23975261|PMID:24033266|PMID:24524299|PMID:24970098|PMID:25149867|PMID:25326635|PMID:25533962|PMID:25741868|PMID:25809939|PMID:27146152|PMID:27777260|PMID:28053271|PMID:28492532|PMID:28687512|PMID:29186371|PMID:29444210|PMID:29656927|PMID:30221345|PMID:30986545|PMID:33462000|PMID:36004024 12325976 EXOSC3 exosome component 3 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1312357 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12325976 EXOSC3 exosome component 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1312357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:22544365|PMID:23883322|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30221345 12325976 EXOSC3 exosome component 3 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1312357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12325976 EXOSC3 exosome component 3 gene DOID:0112322 pontocerebellar hypoplasia type 1 ISO RGD:1312357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22544365 12325976 EXOSC3 exosome component 3 gene DOID:10534 stomach cancer disease_progression ISO RGD:1312357 D RGD:9068941 20220421 RGD mRNA:altered expression:stomach, tumor (human) PMID:29069277|REF_RGD_ID:151893464 12325976 EXOSC3 exosome component 3 gene DOID:630 genetic disease ISO RGD:1312357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22544365|PMID:23564332|PMID:23883322|PMID:23975261|PMID:24524299|PMID:24970098|PMID:25149867|PMID:25326635|PMID:25533962|PMID:25741868|PMID:27146152|PMID:27777260|PMID:28492532|PMID:28687512|PMID:29186371|PMID:29444210|PMID:29656927|PMID:30986545 12325976 EXOSC3 exosome component 3 gene DOID:9005603 Muscle Hypotonia ISO RGD:1312357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:22544365|PMID:23564332|PMID:23883322|PMID:23975261|PMID:24524299|PMID:24970098|PMID:25149867|PMID:25326635|PMID:25533962|PMID:25741868|PMID:27146152|PMID:27777260|PMID:28492532|PMID:28687512|PMID:29186371|PMID:29444210|PMID:29656927|PMID:30986545 12325976 EXOSC3 exosome component 3 gene DOID:9006534 Nervous System Malformations ISO RGD:1312357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:22544365|PMID:23564332|PMID:23883322|PMID:23975261|PMID:24524299|PMID:24970098|PMID:25149867|PMID:25326635|PMID:25533962|PMID:25741868|PMID:27146152|PMID:27777260|PMID:28492532|PMID:28687512|PMID:29186371|PMID:29444210|PMID:29656927|PMID:30986545 12325976 EXOSC3 exosome component 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1312357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12325976 EXOSC3 exosome component 3 gene DOID:9870 galactosemia ISO RGD:1312357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12325984 TNFSF15 TNF superfamily member 15 gene DOID:0050589 inflammatory bowel disease ISO RGD:737096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192919 12325984 TNFSF15 TNF superfamily member 15 gene DOID:0110896 inflammatory bowel disease 16 ISO RGD:737097 D RGD:9068941 20220825 MouseDO OMIM:612259 12325984 TNFSF15 TNF superfamily member 15 gene DOID:1024 leprosy ISO RGD:737096 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 12325984 TNFSF15 TNF superfamily member 15 gene DOID:630 genetic disease ISO RGD:737096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325984 TNFSF15 TNF superfamily member 15 gene DOID:8398 osteoarthritis ISO RGD:737096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 12325984 TNFSF15 TNF superfamily member 15 gene DOID:8577 ulcerative colitis ISO RGD:737096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 12325984 TNFSF15 TNF superfamily member 15 gene DOID:9005372 Inflammation ISO RGD:737096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20980995 12325984 TNFSF15 TNF superfamily member 15 gene DOID:9007156 Enteritis ISO RGD:737096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20980995 12325992 SLIT1 slit guidance ligand 1 gene DOID:630 genetic disease ISO RGD:733848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12325992 SLIT1 slit guidance ligand 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:736743 D RGD:9068941 20200609 RGD PMID:16262652|REF_RGD_ID:2316136 12325992 SLIT1 slit guidance ligand 1 gene DOID:9000998 Brain Injuries ISO RGD:69307 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:16262652|REF_RGD_ID:2316136 12325992 SLIT1 slit guidance ligand 1 gene DOID:9007330 Monomelic Amyotrophy ISO RGD:733848 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Monomelic amyotrophy 12326033 RCVRN recoverin gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:734065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 12326033 RCVRN recoverin gene DOID:630 genetic disease ISO RGD:734065 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12326040 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:0050777 Joubert syndrome ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12326040 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12326040 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1319171 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12326040 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1319171 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12326040 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12326040 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1319171 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12326040 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319171 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12326040 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:0081097 Rafiq syndrome ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12326040 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12326040 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:2843 long QT syndrome ISO RGD:1319171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12326040 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:3652 Leigh disease ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12326040 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:630 genetic disease ISO RGD:1319171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12326040 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:9005249 Immunodeficiency 103 ISO RGD:1319171 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS PMID:28492532 12326040 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 12326080 DOCK11 dedicator of cytokinesis 11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12326080 DOCK11 dedicator of cytokinesis 11 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1348616 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 12326080 DOCK11 dedicator of cytokinesis 11 gene DOID:12849 autistic disorder ISO RGD:1348616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12326080 DOCK11 dedicator of cytokinesis 11 gene DOID:630 genetic disease ISO RGD:1348616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12326137 STK26 serine/threonine kinase 26 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12326137 STK26 serine/threonine kinase 26 gene DOID:12849 autistic disorder ISO RGD:1604356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12326137 STK26 serine/threonine kinase 26 gene DOID:630 genetic disease ISO RGD:1604356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12326153 RAB8B RAB8B, member RAS oncogene family gene DOID:0110935 nemaline myopathy 6 ISO RGD:1350755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12326153 RAB8B RAB8B, member RAS oncogene family gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1350755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12326153 RAB8B RAB8B, member RAS oncogene family gene DOID:2717 Bloom syndrome ISO RGD:1350755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12326153 RAB8B RAB8B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1350755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12326153 RAB8B RAB8B, member RAS oncogene family gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12326153 RAB8B RAB8B, member RAS oncogene family gene DOID:9256 colorectal cancer ISO RGD:1350755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12326166 KMT5A lysine methyltransferase 5A gene DOID:630 genetic disease ISO RGD:1602490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12326190 ARHGDIG Rho GDP dissociation inhibitor gamma gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1321818 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12326190 ARHGDIG Rho GDP dissociation inhibitor gamma gene DOID:1826 epilepsy ISO RGD:1321818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 12326190 ARHGDIG Rho GDP dissociation inhibitor gamma gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1321818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12326190 ARHGDIG Rho GDP dissociation inhibitor gamma gene DOID:630 genetic disease ISO RGD:1321818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12326235 SPATA1 spermatogenesis associated 1 gene DOID:630 genetic disease ISO RGD:1353083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1319782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1319782 D RGD:9068941 20221117 RGD DNA:missense mutations: :multiple (human) PMID:27426733|REF_RGD_ID:11552867 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:0111787 frontometaphyseal dysplasia 2 ISO RGD:1319782 D RGD:7240710 20190315 OMIM 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:0111787 frontometaphyseal dysplasia 2 ISO RGD:1319782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia 2 PMID:25741868|PMID:25899317|PMID:27426733|PMID:28492532 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:10283 prostate cancer ISO RGD:1319782 D RGD:9068941 20200609 RGD DNA:deletion PMID:17785553|REF_RGD_ID:2298803 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:11520 benign hypertensive renal disease ISO RGD:1319782 D RGD:9068941 20221222 RGD protein:increased expression:cortex of kidney (human) PMID:34584221|REF_RGD_ID:155791449 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1319782 D RGD:9068941 20221231 RGD protein:increased phosphorylation:heart (human) PMID:27249171|REF_RGD_ID:155646134 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:11984 hypertrophic cardiomyopathy treatment ISO RGD:1319783 D RGD:9068941 20221110 RGD PMID:27249171|REF_RGD_ID:155646134 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319782 D RGD:9068941 20221231 RGD protein:increased phosphorylation:heart (human) PMID:27249171|REF_RGD_ID:155646134 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:13619 extrahepatic cholestasis ISO RGD:1319782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:224 transient cerebral ischemia ameliorates ISO RGD:1319783 D RGD:9068941 20230128 RGD PMID:32078472|PMID:32349637|PMID:32382778|PMID:34628598|REF_RGD_ID:155791642|REF_RGD_ID:155804272|REF_RGD_ID:155804283|REF_RGD_ID:155804284 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:2316 brain ischemia treatment ISO RGD:1319783 D RGD:9068941 20230128 RGD PMID:21475303|REF_RGD_ID:155882442 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:2349 arteriosclerosis ameliorates ISO RGD:1309438 D RGD:9068941 20230128 RGD PMID:35078016|REF_RGD_ID:155804282 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1319783 D RGD:9068941 20221117 RGD mRNA, protein:increased expression:lung (mouse) PMID:34331613|REF_RGD_ID:155663371 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:3393 coronary artery disease ISO RGD:1319782 D RGD:9068941 20221222 RGD associated with hypothyroidism;mRNA:decreased expression:venous blood (human) PMID:32495070|REF_RGD_ID:155791451 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1319783 D RGD:9068941 20220825 MouseDO OMIM:194200 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:4724 brain edema ISO RGD:1319783 D RGD:9068941 20230128 RGD PMID:26347470|REF_RGD_ID:11074637 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:4905 pancreatic carcinoma ISO RGD:1319782 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34686948 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:5844 myocardial infarction ISO RGD:1309438 D RGD:9068941 20230105 RGD mRNA, protein:increased expression:myocardium (rat) PMID:16183734|REF_RGD_ID:2298758 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:5844 myocardial infarction treatment ISO RGD:1309438 D RGD:9068941 20230202 RGD PMID:27121011|REF_RGD_ID:11073666 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:6000 congestive heart failure ISO RGD:1319783 D RGD:9068941 20230128 RGD PMID:10802712|PMID:25278099|REF_RGD_ID:11534146|REF_RGD_ID:155804285 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:6000 congestive heart failure treatment ISO RGD:1319783 D RGD:9068941 20230105 RGD PMID:26706286|REF_RGD_ID:155791673 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:630 genetic disease ISO RGD:1319782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:784 chronic kidney disease ISO RGD:1309438 D RGD:9068941 20230128 RGD protein:increased expression:aorta (rat) PMID:32581266|REF_RGD_ID:155804294 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:1309438 D RGD:9068941 20230112 RGD PMID:29273596|REF_RGD_ID:155804269 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9000890 Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones ISO RGD:1319782 D RGD:7240710 20190315 OMIM 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9000890 Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones ISO RGD:1319782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiospondylocarpofacial syndrome PMID:20186786|PMID:25741868|PMID:27426733|PMID:27426734|PMID:28492532|PMID:29467388|PMID:32105826 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9000998 Brain Injuries treatment ISO RGD:1309438 D RGD:9068941 20230128 RGD associated with Subarachnoid Hemorrhage PMID:26100626|PMID:27000704|REF_RGD_ID:155791672|REF_RGD_ID:155804286 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9000998 Brain Injuries treatment ISO RGD:1319783 D RGD:9068941 20230128 RGD associated with Subarachnoid Hemorrhage PMID:33414375|REF_RGD_ID:155882440 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9001820 Pulmonary Arterial Hypertension treatment ISO RGD:1309438 D RGD:9068941 20230128 RGD PMID:35582418|REF_RGD_ID:155804297 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:1319783 D RGD:9068941 20230114 RGD PMID:30076625|REF_RGD_ID:155804280 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9002159 Liver Reperfusion Injury exacerbates ISO RGD:1319783 D RGD:9068941 20230128 RGD protein:increased phosphorylation:liver (mouse) PMID:30622220|REF_RGD_ID:155882441 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9002202 Opsismodysplasia ISO RGD:1319782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delayed skeletal maturation PMID:25741868 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9002220 Forney Robinson Pascoe Syndrome ISO RGD:1319782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9002304 Prostatic Neoplasms no_association ISO RGD:1319782 D RGD:9068941 20200609 RGD based one the lack of correlation to loss of heterozygosity (LOH) PMID:12967473|REF_RGD_ID:2298805 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9003139 Cardiac Fibrosis ISO RGD:1319783 D RGD:9068941 20230128 RGD associated with obesity;protein:increased phosphorylation:heart (mouse) PMID:29143862|REF_RGD_ID:155804300 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:1309438 D RGD:9068941 20230105 RGD PMID:32543140|REF_RGD_ID:155791675 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1309438 D RGD:9068941 20230112 RGD protein:increased expression:brain (rat) PMID:32734729|REF_RGD_ID:155804275 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9003676 Brain Hypoxia-Ischemia ameliorates ISO RGD:1319783 D RGD:9068941 20230112 RGD PMID:29138854|REF_RGD_ID:155804273 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9003936 Cardiomegaly ISO RGD:1309438 D RGD:9068941 20230105 RGD mRNA:increased expression:wall of left ventricle (rat) PMID:30854566|REF_RGD_ID:155791647 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9003936 Cardiomegaly ISO RGD:1319783 D RGD:9068941 20230105 RGD protein:increased phosphorylation:heart (mouse) PMID:27956576|PMID:32971071|PMID:35490166|REF_RGD_ID:155791643|REF_RGD_ID:155791649|REF_RGD_ID:155791668 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9003936 Cardiomegaly ameliorates ISO RGD:1319783 D RGD:9068941 20230105 RGD PMID:30407523|REF_RGD_ID:155791650 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1309438 D RGD:9068941 20230112 RGD PMID:28821620|REF_RGD_ID:155804266 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1319783 D RGD:9068941 20230105 RGD PMID:26891723|PMID:31885808|PMID:34733837|REF_RGD_ID:11555743|REF_RGD_ID:155791644|REF_RGD_ID:155791674 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9004994 Embryo Loss ISO RGD:1319783 D RGD:9068941 20221117 RGD PMID:22972987|REF_RGD_ID:155663421 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:1309438 D RGD:9068941 20230202 RGD associated with type 2 diabetes mellitus;protein:decreased expression:myocardium of ventricle (rat) PMID:22146585|REF_RGD_ID:155883162 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9007096 Stroke treatment ISO RGD:1319783 D RGD:9068941 20221222 RGD PMID:33434616|REF_RGD_ID:155791452 12326259 MAP3K7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9007346 Cachexia treatment ISO RGD:1309438 D RGD:9068941 20230105 RGD associated with Pulmonary Arterial Hypertension PMID:30554141|REF_RGD_ID:155791671 12326306 ERP44 endoplasmic reticulum protein 44 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1319370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 12326306 ERP44 endoplasmic reticulum protein 44 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1319370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 12326306 ERP44 endoplasmic reticulum protein 44 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1319370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 12326306 ERP44 endoplasmic reticulum protein 44 gene DOID:0111113 nephronophthisis 2 ISO RGD:1319370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile nephronophthisis PMID:25741868 12326306 ERP44 endoplasmic reticulum protein 44 gene DOID:1059 intellectual disability ISO RGD:1319370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12326306 ERP44 endoplasmic reticulum protein 44 gene DOID:12712 nephronophthisis ISO RGD:1319370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 12326306 ERP44 endoplasmic reticulum protein 44 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1319370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 12326306 ERP44 endoplasmic reticulum protein 44 gene DOID:630 genetic disease ISO RGD:1319370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12326306 ERP44 endoplasmic reticulum protein 44 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12326320 SMYD5 SMYD family member 5 gene DOID:0050473 Alstrom syndrome ISO RGD:1319335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 12326320 SMYD5 SMYD family member 5 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1319335 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12326320 SMYD5 SMYD family member 5 gene DOID:543 dystonia ISO RGD:1319335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12326320 SMYD5 SMYD family member 5 gene DOID:630 genetic disease ISO RGD:1319335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12326320 SMYD5 SMYD family member 5 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1319335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12326337 PLXND1 plexin D1 gene DOID:0060165 Kleine-Levin syndrome ISO RGD:1321904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kleine-Levin syndrome PMID:28492532 12326337 PLXND1 plexin D1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1321904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12326337 PLXND1 plexin D1 gene DOID:11198 DiGeorge syndrome ISO RGD:1553585 D RGD:9068941 20220825 MouseDO OMIM:188400 12326337 PLXND1 plexin D1 gene DOID:13501 Moebius syndrome ISO RGD:1321904 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum PMID:25741868 12326337 PLXND1 plexin D1 gene DOID:224 transient cerebral ischemia ameliorates ISO RGD:1310796 D RGD:9068941 20221117 RGD PMID:30653356|REF_RGD_ID:155663383 12326337 PLXND1 plexin D1 gene DOID:630 genetic disease ISO RGD:1321904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12326337 PLXND1 plexin D1 gene DOID:9006145 Congenital Heart Defects, Multiple Types, 9 ISO RGD:1321904 D RGD:7240710 20230505 OMIM 12326337 PLXND1 plexin D1 gene DOID:9006145 Congenital Heart Defects, Multiple Types, 9 ISO RGD:1321904 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 9 PMID:2194395|PMID:24254849|PMID:35396997|PMID:8042678 12326337 PLXND1 plexin D1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1321904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 12326337 PLXND1 plexin D1 gene DOID:9270 alkaptonuria ISO RGD:1321904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12326337 PLXND1 plexin D1 gene DOID:9775 diastolic heart failure ISO RGD:1321904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12326377 KXD1 KxDL motif containing 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1622240 D RGD:9068941 20220825 MouseDO 12326377 KXD1 KxDL motif containing 1 gene DOID:630 genetic disease ISO RGD:1601969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12326377 KXD1 KxDL motif containing 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1601969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12326386 TMEM41B transmembrane protein 41B gene DOID:630 genetic disease ISO RGD:1347999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12326405 DZIP1 DAZ interacting zinc finger protein 1 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1317042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 12326405 DZIP1 DAZ interacting zinc finger protein 1 gene DOID:0112175 spermatogenic failure 47 ISO RGD:1317042 D RGD:7240710 20201202 OMIM 12326405 DZIP1 DAZ interacting zinc finger protein 1 gene DOID:0112175 spermatogenic failure 47 ISO RGD:1317042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 47 PMID:32051257 12326405 DZIP1 DAZ interacting zinc finger protein 1 gene DOID:630 genetic disease ISO RGD:1317042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12326405 DZIP1 DAZ interacting zinc finger protein 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1317042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12326405 DZIP1 DAZ interacting zinc finger protein 1 gene DOID:9007938 Myxomatous Mitral Valve Prolapse 3 ISO RGD:1317042 D RGD:7240710 20201202 OMIM 12326405 DZIP1 DAZ interacting zinc finger protein 1 gene DOID:9007938 Myxomatous Mitral Valve Prolapse 3 ISO RGD:1317042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitral valve prolapse, myxomatous 3 PMID:31118289 12326405 DZIP1 DAZ interacting zinc finger protein 1 gene DOID:988 mitral valve prolapse ISO RGD:1550795 D RGD:9068941 20220825 MouseDO OMIM:157700 | OMIM:607829 | OMIM:610840 12326443 DDRGK1 DDRGK domain containing 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1320614 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12326443 DDRGK1 DDRGK domain containing 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1320614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12326443 DDRGK1 DDRGK domain containing 1 gene DOID:630 genetic disease ISO RGD:1320614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12326443 DDRGK1 DDRGK domain containing 1 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1320614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:26224535|PMID:28492532 12326443 DDRGK1 DDRGK domain containing 1 gene DOID:9006563 Spondyloepimetaphyseal Dysplasia, Shohat Type ISO RGD:1320614 D RGD:7240710 20190315 OMIM 12326443 DDRGK1 DDRGK domain containing 1 gene DOID:9006563 Spondyloepimetaphyseal Dysplasia, Shohat Type ISO RGD:1320614 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Shohat type PMID:25741868|PMID:28263186|PMID:28492532|PMID:8357004 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0014667 disease of metabolism ISO RGD:731747 D RGD:9068941 20220825 MouseDO 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:25741868|PMID:28492532 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:731746 D RGD:7240710 20180130 OMIM 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15385933|PMID:15389709|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16498234|PMID:16518851|PMID:16533526|PMID:16631468|PMID:16638574|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17935252|PMID:17972951|PMID:18241070|PMID:18253957|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18562489|PMID:18678287|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:18925961|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19352411|PMID:19509418|PMID:19568997|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19773259|PMID:19825837|PMID:19835954|PMID:19864201|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20651068|PMID:20718194|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21204800|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21533187|PMID:21548061|PMID:21555152|PMID:21567923|PMID:21590266|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22190897|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:23297836|PMID:23317994|PMID:23321623|PMID:23334666|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23813970|PMID:23825065|PMID:23832011|PMID:24033266|PMID:24037001|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24891296|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:25722345|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25917897|PMID:26084119|PMID:26203125|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27783593|PMID:28051113|PMID:28074573|PMID:28098151|PMID:28135719|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:28921562|PMID:28957739|PMID:28991257|PMID:29038591|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29493581|PMID:29555671|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31219622|PMID:31263281|PMID:31560489|PMID:31637070|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32824488|PMID:32860008|PMID:32901917|PMID:33091040|PMID:33318624|PMID:34006472|PMID:34008892|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050469 Costello syndrome ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17703371 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050700 cardiomyopathy ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:18759865|PMID:21934682|PMID:22923420|PMID:24033266|PMID:24803665|PMID:25500235|PMID:25612910|PMID:25741868|PMID:27153395|PMID:28051113|PMID:28492532 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050868 hepatocellular adenoma ISO RGD:731747 D RGD:9068941 20220825 MouseDO 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060041 autism spectrum disorder ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060058 lymphoma ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lymphoma PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:27038324|PMID:27104176|PMID:28492532|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32901917|PMID:34008892 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CFC syndrome PMID:25741868|PMID:28492532 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060249 scoliosis ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:11992261|PMID:15121796|PMID:17339163|PMID:17875892|PMID:18241070|PMID:20301557|PMID:21533187|PMID:24033266|PMID:24935154|PMID:25741868|PMID:28492532 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060250 idiopathic scoliosis ISO RGD:731747 D RGD:9068941 20220825 MouseDO 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060260 ptosis ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ptosis PMID:11992261|PMID:14644997|PMID:15539800|PMID:15723289|PMID:15987685|PMID:16358218|PMID:17020470|PMID:17339163|PMID:17361219|PMID:18372317|PMID:19020799|PMID:19737548|PMID:20308328|PMID:21706501|PMID:21901340|PMID:22315187|PMID:22488759|PMID:23584145|PMID:24033266|PMID:24628801|PMID:25585602|PMID:25595571|PMID:25741868|PMID:26467025|PMID:26918529|PMID:28363362|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:731746 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32417439 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060578 Noonan syndrome 1 ISO RGD:731746 D RGD:7240710 20180130 OMIM 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060578 Noonan syndrome 1 ISO RGD:731746 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15211660|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23817572|PMID:23832011|PMID:23917401|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060578 Noonan syndrome 1 ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:25612910|PMID:2564168|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29038591|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29493581|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29758562|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31259454|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32794475|PMID:32824488|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33318624|PMID:33568805|PMID:33619735|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060581 Noonan syndrome 3 ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15385933|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15723289|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16467864|PMID:16498234|PMID:16638574|PMID:16733669|PMID:16804314|PMID:16990350|PMID:17020470|PMID:17339163|PMID:17361219|PMID:17497712|PMID:17546245|PMID:17641779|PMID:17661820|PMID:17972951|PMID:18241070|PMID:18286234|PMID:18372317|PMID:18470943|PMID:18505544|PMID:18678287|PMID:18759865|PMID:18854871|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19179468|PMID:19273734|PMID:19582499|PMID:19706403|PMID:19737548|PMID:20112233|PMID:20186801|PMID:20301303|PMID:20301557|PMID:20308328|PMID:2057894|PMID:20578946|PMID:20718194|PMID:20931536|PMID:20954246|PMID:21106241|PMID:21204800|PMID:21321969|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:22058153|PMID:22190897|PMID:22315187|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22847776|PMID:22848035|PMID:23321623|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23756559|PMID:23771920|PMID:23832011|PMID:24030381|PMID:24033266|PMID:24037001|PMID:24150203|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24803665|PMID:24821303|PMID:24931631|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25253770|PMID:25326635|PMID:25337068|PMID:25359717|PMID:25395418|PMID:25585602|PMID:25595571|PMID:25708222|PMID:25724491|PMID:25741868|PMID:25741869|PMID:25862627|PMID:25914815|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26742426|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27276561|PMID:27460089|PMID:27521173|PMID:27626068|PMID:27683039|PMID:27884971|PMID:28363362|PMID:28492532|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30541462|PMID:30692697|PMID:30732632|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32581362|PMID:32901917|PMID:34008892|PMID:34782754 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080548 Noonan syndrome with multiple lentigines 1 ISO RGD:731746 D RGD:7240710 20190320 OMIM 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080548 Noonan syndrome with multiple lentigines 1 ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 1 PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16631468|PMID:16638574|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17935252|PMID:17972951|PMID:18241070|PMID:18253957|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19825837|PMID:19835954|PMID:19864201|PMID:20030748|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21204800|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21677813|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23832011|PMID:24033266|PMID:24037001|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24891296|PMID:24896146|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25263441|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25381062|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27069254|PMID:27104176 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080548 Noonan syndrome with multiple lentigines 1 ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 1 PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:28051113|PMID:28074573|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29038591|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29493581|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31219622|PMID:31259454|PMID:31560489|PMID:31637070|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32581362|PMID:32719394|PMID:32746448|PMID:32824488|PMID:32860008|PMID:32901917|PMID:33091040|PMID:33318624|PMID:34006472|PMID:34008892|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15521065|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19651601|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20577567|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25500235 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26619011|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27153395|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28166811|PMID:28363362|PMID:28366775|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29084544|PMID:29146883|PMID:29276006|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29907801|PMID:29988639|PMID:30266093|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30541462|PMID:30577886|PMID:30604644|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31263281|PMID:31560489|PMID:31573083|PMID:31827275|PMID:32164556|PMID:32165824|PMID:32581362|PMID:32627857|PMID:32860008|PMID:32963807|PMID:33091040|PMID:33128510|PMID:34008892|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19651601|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:25595571|PMID:25612910|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27783593|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28166811|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:34006472|PMID:34008892|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19651601|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23757202|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25500235|PMID:25533962|PMID:25544017 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: RASopathy PMID:25585602|PMID:25595571|PMID:25612910|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27783593|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28166811|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:34006472|PMID:34008892|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19651601|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23757202|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: RASopathy PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27783593|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28166811|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32561839|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32794475|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:34006472|PMID:34008892|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15211660|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15521065|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17301821|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25802336|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28366775|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33568805|PMID:33619735|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15211660|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15521065|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17301821|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334666|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25802336|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26223499|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28366775|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33318624|PMID:33568805|PMID:33619735|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:731746 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:15384080|PMID:16358218|PMID:24803665|PMID:25741868|PMID:27993330|PMID:28492532 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ASD II PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0110962 brachydactyly-preaxial hallux varus syndrome ISO RGD:731746 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dominant preaxial brachydactyly with hallux varus and thumb abduction PMID:11704759|PMID:12161469|PMID:12634870|PMID:14961557|PMID:14974085|PMID:15001945|PMID:16263833|PMID:16358218|PMID:16399795|PMID:16631468|PMID:17177198|PMID:17339163|PMID:18562489|PMID:18678287|PMID:19737548|PMID:22781091|PMID:24033266|PMID:25741868|PMID:26918529|PMID:28492532|PMID:32059087 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0111512 metachondromatosis ISO RGD:731746 D RGD:7240710 20180130 OMIM 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0111512 metachondromatosis ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Metachondromatosis PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15385933|PMID:15389709|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16631468|PMID:16638574|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17935252|PMID:17972951|PMID:18241070|PMID:18253957|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18562489|PMID:18678287|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19352411|PMID:19449407|PMID:19509418|PMID:19568997|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19825837|PMID:19835954|PMID:19864201|PMID:20030748|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20577567|PMID:20651068|PMID:20718194|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21204800|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22190897|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:23297836|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23813970|PMID:23832011|PMID:24033266|PMID:24037001|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24891296|PMID:24896146|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326637|PMID:25337068|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:25722345|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25917897|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26645620|PMID:26673822|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:28051113|PMID:28074573|PMID:28135719|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29038591|PMID:29146883 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0111512 metachondromatosis ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Metachondromatosis PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29493581|PMID:29555671|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30784236|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31219622|PMID:31560489|PMID:31637070|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32581362|PMID:32719394|PMID:32824488|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33318624|PMID:34006472|PMID:34008892|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0111683 neurofibromatosis-Noonan syndrome ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome PMID:22465605|PMID:28074573|PMID:28492532 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:12717436|PMID:14644997|PMID:15385933|PMID:15710330|PMID:15928039|PMID:16358218|PMID:17972951|PMID:19047918|PMID:19179468|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26619011|PMID:27069254|PMID:28098151|PMID:30868567 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:10534 stomach cancer ISO RGD:731746 D RGD:9068941 20201001 RGD DNA:SNPs::rs12229892, rs2301756(human) PMID:27614952|REF_RGD_ID:39128246 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1059 intellectual disability ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:15121796|PMID:17339163|PMID:17875892|PMID:18241070|PMID:24033266|PMID:24451042|PMID:24935154|PMID:25741868|PMID:28492532 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1059 intellectual disability ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild PMID:11992261|PMID:15121796|PMID:17339163|PMID:17875892|PMID:18241070|PMID:20301303|PMID:20301557|PMID:21533187|PMID:24033266|PMID:24451042|PMID:24935154|PMID:25741868|PMID:26833328|PMID:28492532|PMID:34136434 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:10907 microcephaly ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:11704759|PMID:11992261|PMID:12717436|PMID:14644997|PMID:15539800|PMID:15723289|PMID:15928039|PMID:15987685|PMID:16263833|PMID:16358218|PMID:16377799|PMID:17020470|PMID:17339163|PMID:17361219|PMID:18372317|PMID:18470943|PMID:18562489|PMID:19020799|PMID:19737548|PMID:19795160|PMID:20308328|PMID:21706501|PMID:21901340|PMID:22315187|PMID:22488759|PMID:23584145|PMID:24033266|PMID:24628801|PMID:25585602|PMID:25595571|PMID:25741868|PMID:26467025|PMID:26918529|PMID:28363362|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30325180|PMID:30410095|PMID:30417923|PMID:31134136|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:11168 anogenital venereal wart ISO RGD:731746 D RGD:9068941 20201001 RGD protein:increased expression:foreskin PMID:18543080|REF_RGD_ID:39128248 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:11983 Prader-Willi syndrome ISO RGD:731746 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:24451042|PMID:25741868|PMID:28492532 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:11992261|PMID:12058348|PMID:12960218|PMID:14644997|PMID:14961557|PMID:15001945|PMID:15121796|PMID:15385933|PMID:15520399|PMID:15539800|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15987685|PMID:16338218|PMID:16358218|PMID:16377799|PMID:16638574|PMID:17020470|PMID:17339163|PMID:17361219|PMID:17935252|PMID:17972951|PMID:18372317|PMID:18373317|PMID:18759865|PMID:18849586|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19737548|PMID:19825837|PMID:19864201|PMID:20301557|PMID:20308328|PMID:20493809|PMID:20535210|PMID:20883402|PMID:21365175|PMID:21533187|PMID:21706501|PMID:21901340|PMID:21910245|PMID:22190897|PMID:22315187|PMID:22411627|PMID:22488759|PMID:22555271|PMID:22585553|PMID:22681964|PMID:23317994|PMID:23457302|PMID:23584145|PMID:23813970|PMID:24033266|PMID:24037001|PMID:24451042|PMID:24628801|PMID:24767283|PMID:24775816|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25741868|PMID:25884655|PMID:25917897|PMID:26337637|PMID:26467025|PMID:26918529|PMID:27069254|PMID:27238887|PMID:27276561|PMID:27484170|PMID:27659786|PMID:28363362|PMID:28492532|PMID:28681392|PMID:29346770|PMID:29493581|PMID:29907801|PMID:30025578|PMID:30311386|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1240 leukemia ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15273746 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:12930 dilated cardiomyopathy ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18759865|PMID:21934682|PMID:22923420|PMID:24033266|PMID:24803665|PMID:25500235|PMID:25612910|PMID:25741868|PMID:27153395|PMID:28051113|PMID:28492532 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:13620 patent foramen ovale ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:13832 patent ductus arteriosus ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Patency of the ductus arteriosus PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathic lentiginosis | ClinVar Annotator: match by term: LENTIGINOSIS, CARDIOMYOPATHIC | ClinVar Annotator: match by term: MULTIPLE LENTIGINES SYNDROME | ClinVar Annotator: match by term: Multiple lentigines syndrome | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16631468|PMID:16638574|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18241070|PMID:18253957|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19825837|PMID:19835954|PMID:19864201|PMID:20030748|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21204800|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21677813|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:23297836|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23832011|PMID:24033266|PMID:24037001|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24891296|PMID:24896146|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathic lentiginosis | ClinVar Annotator: match by term: LENTIGINOSIS, CARDIOMYOPATHIC | ClinVar Annotator: match by term: MULTIPLE LENTIGINES SYNDROME | ClinVar Annotator: match by term: Multiple lentigines syndrome | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:28051113|PMID:28074573|PMID:28135719|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29038591|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29493581|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31219622|PMID:31259454|PMID:31560489|PMID:31637070|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32581362|PMID:32719394|PMID:32746448|PMID:32824488|PMID:32860008|PMID:32901917|PMID:33091040|PMID:33318624|PMID:34006472|PMID:34008892|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1588 thrombocytopenia ISO RGD:731746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16498234|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19133693|PMID:19352411|PMID:19509418|PMID:20301303|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24033266|PMID:24072241|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27117572|PMID:27521173|PMID:28135719|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29493581|PMID:29848529|PMID:29907801|PMID:30287924|PMID:30294303|PMID:30355600|PMID:30417923|PMID:30604644|PMID:31219622|PMID:31560489|PMID:31637070|PMID:32581362|PMID:32860008|PMID:33091040|PMID:34008892|PMID:4746100 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:162 cancer ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cancer PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15842656|PMID:15928039|PMID:16830086|PMID:18470943|PMID:18678287|PMID:19047918|PMID:19509418|PMID:21930766|PMID:23825065|PMID:24033266|PMID:26619011|PMID:27783593|PMID:28492532 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1686 glaucoma ISO RGD:3447 D RGD:9068941 20201001 RGD protein:increased expression,increased phosphorylation:retina PMID:30341011|REF_RGD_ID:39456090 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1686 glaucoma ISO RGD:731746 D RGD:9068941 20201001 RGD protein:increased phosphorylation:retina PMID:30341011|REF_RGD_ID:39456090 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1686 glaucoma treatment ISO RGD:3447 D RGD:9068941 20201001 RGD PMID:30341011|REF_RGD_ID:39456090 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1712 aortic valve stenosis ISO RGD:731747 D RGD:9068941 20200609 RGD with Egfr mutation PMID:10700187|REF_RGD_ID:734918 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1749 squamous cell carcinoma ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:206 hereditary multiple exostoses ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21533187 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:2213 hemorrhagic disease ISO RGD:731746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16498234|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19133693|PMID:19352411|PMID:19509418|PMID:20301303|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24033266|PMID:24072241|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27117572|PMID:27521173|PMID:28135719|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29493581|PMID:29848529|PMID:29907801|PMID:30287924|PMID:30294303|PMID:30355600|PMID:30417923|PMID:30604644|PMID:31219622|PMID:31560489|PMID:31637070|PMID:32581362|PMID:32860008|PMID:33091040|PMID:34008892|PMID:4746100 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:2340 craniosynostosis ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Brachycephaly PMID:11992261|PMID:14644997|PMID:15539800|PMID:15723289|PMID:15987685|PMID:16358218|PMID:17020470|PMID:17339163|PMID:17361219|PMID:18372317|PMID:19020799|PMID:19737548|PMID:20308328|PMID:21706501|PMID:21901340|PMID:22315187|PMID:22488759|PMID:23584145|PMID:24033266|PMID:24628801|PMID:25585602|PMID:25595571|PMID:25741868|PMID:26467025|PMID:26918529|PMID:28363362|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:2602 chondroma ISO RGD:731746 D RGD:9068941 20200609 RGD DNA:deletion, nonsense mutation:exon:c.514_524del11, p.R138X (human) PMID:20577567|REF_RGD_ID:11069623 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:299 adenocarcinoma ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3069 malignant astrocytoma ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23817572 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3070 high grade glioma ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:18470943|PMID:18678287|PMID:19047918|PMID:19509418|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:26619011|PMID:27783593|PMID:28098151|PMID:28492532 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma PMID:26619011|PMID:26822237 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3490 Noonan syndrome ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23813970|PMID:23817572|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23996481|PMID:24030381|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25708222 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3490 Noonan syndrome ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27460089|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27783593|PMID:27884971|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28135719|PMID:28191889|PMID:28363362|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29493581|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31057598|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31259454|PMID:31560489|PMID:31573083|PMID:31637070|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33318624|PMID:33568805|PMID:33619735|PMID:34006472|PMID:34008892|PMID:34143244|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3717 gastric adenocarcinoma ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:26619011|PMID:26822237 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3907 lung squamous cell carcinoma ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:18470943|PMID:18678287|PMID:19047918|PMID:19509418|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:26619011|PMID:26822237|PMID:27783593|PMID:28098151|PMID:28492532 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3910 lung adenocarcinoma ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:26619011|PMID:26822237 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:4080 tricuspid valve insufficiency ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: tricuspid valve insufficiency PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:4362 cervical cancer ISO RGD:731746 D RGD:9068941 20201001 RGD protein:increased expression:foreskin PMID:18543080|REF_RGD_ID:39128248 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:4624 Ollier disease ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20577567|PMID:21533187 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:540 strabismus ISO RGD:731746 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Strabismus PMID:15985475|PMID:17020470|PMID:17546245|PMID:18470943|PMID:19077116|PMID:20186801|PMID:21590266|PMID:22465605|PMID:22781091|PMID:23624134|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29493581 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia PMID:11992261|PMID:12161469|PMID:15240615|PMID:16032767|PMID:16358218|PMID:16566035|PMID:17020470|PMID:18470943|PMID:18678287|PMID:19020799|PMID:21106241|PMID:21597774|PMID:21784453|PMID:22681964|PMID:23321623|PMID:24033266|PMID:24183200|PMID:24803665|PMID:25741868|PMID:27030275|PMID:28492532|PMID:30266093 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:5688 Werner syndrome ISO RGD:731746 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Werner syndrome PMID:25741868 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:630 genetic disease ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14644997|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15385933|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15834506|PMID:15928039|PMID:15929108|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16498234|PMID:16638574|PMID:16672235|PMID:16924159|PMID:16990350|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17361219|PMID:17515436|PMID:17546245|PMID:17661820|PMID:17875892|PMID:17935252|PMID:17972951|PMID:18241070|PMID:18253957|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18470943|PMID:18562489|PMID:18678287|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19077116|PMID:19120036|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19352411|PMID:19509418|PMID:19737548|PMID:19795160|PMID:19825837|PMID:19864201|PMID:20112233|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20493809|PMID:20535210|PMID:20883402|PMID:20954246|PMID:20979190|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:21706501|PMID:21784453|PMID:21901340|PMID:21910245|PMID:22190897|PMID:22315187|PMID:22411627|PMID:22465605|PMID:22488759|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:23297836|PMID:23317994|PMID:23457302|PMID:23584145|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23813970|PMID:24033266|PMID:24037001|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24451042|PMID:24628801|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24891296|PMID:24935154|PMID:25097206|PMID:25326637|PMID:25395418|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25741868|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25917897|PMID:26337637|PMID:26372199|PMID:26467025|PMID:26607044|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27069254|PMID:27117572|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27659786|PMID:28074573|PMID:28135719|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28681392|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29346770|PMID:29493581|PMID:29555671|PMID:29696744|PMID:29848529|PMID:29907801|PMID:30025578|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30602027|PMID:30604644|PMID:30784236|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31560489|PMID:31637070|PMID:32164556|PMID:32233106|PMID:32581362|PMID:32719394|PMID:32824488|PMID:32860008|PMID:33091040|PMID:34006472|PMID:34008892|PMID:4746100|PMID:9491886 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:6419 tetralogy of Fallot susceptibility ISO RGD:731746 D RGD:9068941 20200609 RGD DNA:snp:intron:c.757-4333A>G (rs11066320) (human) PMID:22503907|REF_RGD_ID:12743641 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:6536 plasma cell neoplasm ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:18470943|PMID:18678287|PMID:19047918|PMID:19509418|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:26619011|PMID:26822237|PMID:27783593|PMID:28098151|PMID:28492532 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:769 neuroblastoma ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15710330|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:17972951|PMID:18470943|PMID:18678287|PMID:19047918|PMID:19179468|PMID:19509418|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26619011|PMID:27069254|PMID:27783593|PMID:28098151|PMID:28492532|PMID:30868567 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:8469 influenza ISO RGD:731747 D RGD:9068941 20201001 RGD mRNA:increased expression:lung PMID:31782850|REF_RGD_ID:39131288 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:8927 learning disability ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:11992261|PMID:15121796|PMID:17339163|PMID:17875892|PMID:18241070|PMID:20301557|PMID:21533187|PMID:24033266|PMID:24935154|PMID:25741868|PMID:28492532 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:8929 atrophic gastritis severity ISO RGD:731746 D RGD:9068941 20201001 RGD associated with Helicobacter Infections;DNA:SNP:intron: rs2301756(human) PMID:19589142|REF_RGD_ID:39128247 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:8929 atrophic gastritis susceptibility ISO RGD:731746 D RGD:9068941 20200925 RGD associated with Helicobacter Infections; DNA:SNP:Cds: PMID:17211494|REF_RGD_ID:39128202 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:8929 atrophic gastritis susceptibility ISO RGD:731746 D RGD:9068941 20201001 RGD DNA:SNP:intron:rs2301756 (human) PMID:18712962|REF_RGD_ID:39131286 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:8929 atrophic gastritis susceptibility ISO RGD:731746 D RGD:9068941 20201001 RGD associated with Helicobacter Infections; DNA:SNP: :rs12423190 (human PMID:22788847|REF_RGD_ID:39131289 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:731747 D RGD:9068941 20201001 RGD mRNA:increased expression:lung PMID:31782850|REF_RGD_ID:39131288 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9001049 Staphylococcal Pneumonia severity ISO RGD:731747 D RGD:9068941 20201001 RGD associated with influenza PMID:31782850|REF_RGD_ID:39131288 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9001276 Failure to Thrive ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9001510 Funnel Chest ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:11992261|PMID:14644997|PMID:15539800|PMID:15723289|PMID:15987685|PMID:16358218|PMID:17020470|PMID:17339163|PMID:17361219|PMID:18372317|PMID:19020799|PMID:19737548|PMID:20308328|PMID:21706501|PMID:21901340|PMID:22315187|PMID:22488759|PMID:23584145|PMID:24033266|PMID:24628801|PMID:25585602|PMID:25595571|PMID:25741868|PMID:26467025|PMID:26918529|PMID:28363362|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:12717436|PMID:14644997|PMID:15385933|PMID:15710330|PMID:15928039|PMID:16358218|PMID:17972951|PMID:19047918|PMID:19179468|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26619011|PMID:27069254|PMID:28098151|PMID:30868567 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:3447 D RGD:9068941 20200609 RGD with postnatal growth restriction PMID:19491300|REF_RGD_ID:12743586 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9002453 Cafe-au-Lait Spots ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cafe-au-lait spot PMID:11992261|PMID:15121796|PMID:17339163|PMID:17875892|PMID:18241070|PMID:20301557|PMID:21533187|PMID:24033266|PMID:24935154|PMID:25741868|PMID:28492532 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15240615|PMID:15273746|PMID:15385933|PMID:15710330|PMID:15928039|PMID:15987685|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16461457|PMID:16533526|PMID:16990350|PMID:17020470|PMID:17972951|PMID:18331608|PMID:18378677|PMID:18470943|PMID:18562489|PMID:19008228|PMID:19047918|PMID:19179468|PMID:19251646|PMID:19795160|PMID:19835954|PMID:20651068|PMID:21365683|PMID:22371576|PMID:22420426|PMID:23321623|PMID:24033266|PMID:24628801|PMID:24718990|PMID:25097206|PMID:25383899|PMID:25395418|PMID:25741868|PMID:26084119|PMID:26242988|PMID:26673822|PMID:27069254|PMID:27276561|PMID:28492532|PMID:30325180|PMID:31134136 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9002854 Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia PMID:11992261|PMID:12058348|PMID:12161596|PMID:14634749|PMID:15121796|PMID:15389709|PMID:15520399|PMID:16053901|PMID:16358218|PMID:16377799|PMID:16638574|PMID:16679933|PMID:17020470|PMID:18372317|PMID:18849586|PMID:19725129|PMID:19768645|PMID:20301557|PMID:20308328|PMID:21339643|PMID:21747628|PMID:22681964|PMID:22822385|PMID:23673659|PMID:24033266|PMID:24401936|PMID:24775816|PMID:24820750|PMID:24935154|PMID:25731833|PMID:25741868|PMID:25917897|PMID:26337637|PMID:26467025|PMID:26918529|PMID:28483241|PMID:28492532|PMID:29276006|PMID:30311386 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9003091 Noonan Like Syndrome ISO RGD:731746 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.D106A, p.F285L (human) PMID:15996221|REF_RGD_ID:11064737 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9003571 Paraproteinemias ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:18470943|PMID:18678287|PMID:19047918|PMID:19509418|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:26619011|PMID:26822237|PMID:27783593|PMID:28098151|PMID:28492532 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731746 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:11704759|PMID:11992261|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15723289|PMID:15834506|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:16377799|PMID:18372317|PMID:18470943|PMID:18758896|PMID:19077116|PMID:19568997|PMID:19737548|PMID:20186801|PMID:21407260|PMID:21784453|PMID:22465605|PMID:22488759|PMID:22681964|PMID:23334668|PMID:24033266|PMID:24037001|PMID:24183200|PMID:24754368|PMID:25097206|PMID:25741868|PMID:25742478|PMID:26918529|PMID:28492532|PMID:29146883|PMID:29907801|PMID:30417923|PMID:31560489|PMID:34008892|PMID:9491886 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9004441 Experimental Leukemia ISO RGD:731746 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32417439 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9005141 Ventricular Tachycardia ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9005193 Osteochondroma ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20577567 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Right ventricular hypertrophy PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9006182 Carotid Artery Injuries ISO RGD:3447 D RGD:9068941 20201001 RGD protein:increased expression:aorta tunica intima, aorta tunica media PMID:12117720|REF_RGD_ID:39456082 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:23334666|PMID:25741868|PMID:26223499|PMID:28492532 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16498234|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19133693|PMID:19352411|PMID:19509418|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24033266|PMID:24628801|PMID:24803665|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26785492|PMID:26817465|PMID:27117572|PMID:27521173|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:29493581|PMID:30604644|PMID:32581362|PMID:32860008|PMID:33091040|PMID:34008892|PMID:4746100 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731746 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16498234|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19133693|PMID:19352411|PMID:19509418|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24033266|PMID:24072241|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27117572|PMID:27521173|PMID:28135719|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29493581|PMID:29848529|PMID:29907801|PMID:30287924|PMID:30294303|PMID:30355600|PMID:30417923|PMID:30604644|PMID:31219622|PMID:31560489|PMID:31637070|PMID:32581362|PMID:32860008|PMID:33091040|PMID:34008892|PMID:4746100 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16498234|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19133693|PMID:19352411|PMID:19509418|PMID:20301303|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24033266|PMID:24072241|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27117572|PMID:27521173|PMID:28135719|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29493581|PMID:29848529|PMID:29907801|PMID:30287924|PMID:30294303|PMID:30355600|PMID:30417923|PMID:30604644|PMID:31219622|PMID:31560489|PMID:31637070|PMID:32581362|PMID:32860008|PMID:33091040|PMID:34008892|PMID:4746100 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007502 Brain Neoplasms ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain PMID:12717436|PMID:14644997|PMID:15385933|PMID:15710330|PMID:15928039|PMID:16358218|PMID:17972951|PMID:19047918|PMID:19179468|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26619011|PMID:27069254|PMID:28098151|PMID:30868567 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007661 Dwarfism ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15240615|PMID:15273746|PMID:15385933|PMID:15710330|PMID:15928039|PMID:15985475|PMID:15987685|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16461457|PMID:16533526|PMID:16990350|PMID:17020470|PMID:17546245|PMID:17972951|PMID:18331608|PMID:18378677|PMID:18470943|PMID:18562489|PMID:19008228|PMID:19047918|PMID:19077116|PMID:19179468|PMID:19251646|PMID:19795160|PMID:19835954|PMID:20186801|PMID:20651068|PMID:21365683|PMID:21590266|PMID:22371576|PMID:22420426|PMID:22465605|PMID:22781091|PMID:23321623|PMID:23624134|PMID:24033266|PMID:24628801|PMID:24718990|PMID:25097206|PMID:25383899|PMID:25395418|PMID:25741868|PMID:26084119|PMID:26242988|PMID:26673822|PMID:27069254|PMID:27276561|PMID:28492532|PMID:29493581|PMID:30325180|PMID:31134136 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9008086 Developmental Disabilities ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:11992261|PMID:14644997|PMID:15539800|PMID:15723289|PMID:15987685|PMID:16358218|PMID:17020470|PMID:17339163|PMID:17361219|PMID:18372317|PMID:19020799|PMID:19737548|PMID:20308328|PMID:21706501|PMID:21901340|PMID:22315187|PMID:22488759|PMID:23584145|PMID:24033266|PMID:24628801|PMID:25585602|PMID:25595571|PMID:25741868|PMID:26467025|PMID:26918529|PMID:28363362|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9008114 Helicobacter Infections susceptibility ISO RGD:731746 D RGD:9068941 20201001 RGD DNA:SNP:intron: rs2301756(human) PMID:19589142|REF_RGD_ID:39128247 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9008386 Hydrops Fetalis ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal edema PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:14644997|PMID:14676626|PMID:15240615|PMID:15273746|PMID:15385933|PMID:15710330|PMID:15928039|PMID:15987685|PMID:16032767|PMID:16358218|PMID:16377799|PMID:16461457|PMID:16533526|PMID:16566035|PMID:16990350|PMID:17020470|PMID:17972951|PMID:18331608|PMID:18378677|PMID:18470943|PMID:18562489|PMID:18678287|PMID:19008228|PMID:19020799|PMID:19047918|PMID:19179468|PMID:19251646|PMID:19835954|PMID:20651068|PMID:21106241|PMID:21365683|PMID:21597774|PMID:21784453|PMID:22371576|PMID:22420426|PMID:22681964|PMID:23321623|PMID:24033266|PMID:24183200|PMID:24628801|PMID:24718990|PMID:24803665|PMID:25097206|PMID:25383899|PMID:25395418|PMID:25741868|PMID:26084119|PMID:26242988|PMID:26673822|PMID:27030275|PMID:27069254|PMID:27276561|PMID:28492532|PMID:30266093 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:18470943|PMID:18678287|PMID:19047918|PMID:19509418|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:26619011|PMID:26822237|PMID:27783593|PMID:28098151|PMID:28492532 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9119 acute myeloid leukemia ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:12717436|PMID:14644997|PMID:15385933|PMID:15710330|PMID:15928039|PMID:16358218|PMID:17972951|PMID:19047918|PMID:19179468|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26619011|PMID:27069254|PMID:28098151|PMID:30868567 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9538 multiple myeloma ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:18470943|PMID:18678287|PMID:19047918|PMID:19509418|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:26619011|PMID:26822237|PMID:27783593|PMID:28098151|PMID:28492532 12326459 PTPN11 protein tyrosine phosphatase non-receptor type 11 gene DOID:962 neurofibroma ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurofibroma PMID:17052965|PMID:21548061|PMID:24033266|PMID:24451042|PMID:24803665|PMID:25741868|PMID:26556299|PMID:28492532 12326459 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9000109 Haemophilus Infections ISO RGD:731747 D RGD:9068941 20201001 RGD mRNA, protein:increased expression:macrophage, lung: PMID:27330052|REF_RGD_ID:39131287 12326481 SSH1 slingshot protein phosphatase 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1345208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12326481 SSH1 slingshot protein phosphatase 1 gene DOID:630 genetic disease ISO RGD:1345208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12326481 SSH1 slingshot protein phosphatase 1 gene DOID:9002514 Neointima ISO RGD:1306038 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery PMID:21868701|REF_RGD_ID:11535005 12326502 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:0110225 Brugada syndrome 8 ISO RGD:1317726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 12326502 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:2717 Bloom syndrome ISO RGD:1317726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12326502 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:3320 Tay-Sachs disease ISO RGD:1317726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 12326502 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:3627 aortic aneurysm ISO RGD:1317726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm PMID:28492532|PMID:29689197 12326502 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1317726 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12326502 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:9256 colorectal cancer ISO RGD:1317726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12326520 TRIO trio Rho guanine nucleotide exchange factor gene DOID:0060041 autism spectrum disorder ISO RGD:1318084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12326520 TRIO trio Rho guanine nucleotide exchange factor gene DOID:0060071 pre-malignant neoplasm ISO RGD:1318084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12326520 TRIO trio Rho guanine nucleotide exchange factor gene DOID:0070070 autosomal dominant intellectual developmental disorder 40 ISO RGD:1318084 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 40 PMID:25741868 12326520 TRIO trio Rho guanine nucleotide exchange factor gene DOID:0070074 autosomal dominant intellectual developmental disorder 44 ISO RGD:1318084 D RGD:7240710 20190315 OMIM 12326520 TRIO trio Rho guanine nucleotide exchange factor gene DOID:0070074 autosomal dominant intellectual developmental disorder 44 ISO RGD:1318084 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY PMID:12551902|PMID:18388777|PMID:23033978|PMID:23934111|PMID:24038936|PMID:24896178|PMID:25741868|PMID:26721934|PMID:27418539|PMID:28492532|PMID:28796471|PMID:28928363|PMID:28973398|PMID:31690835|PMID:32109419|PMID:36937954 12326520 TRIO trio Rho guanine nucleotide exchange factor gene DOID:0110486 autosomal recessive nonsyndromic deafness 28 ISO RGD:1318084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 28 PMID:25741868|PMID:28492532|PMID:32109419 12326520 TRIO trio Rho guanine nucleotide exchange factor gene DOID:1059 intellectual disability ISO RGD:1318084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23033978|PMID:24038936|PMID:25741868|PMID:26721934|PMID:27418539|PMID:28492532|PMID:32109419 12326520 TRIO trio Rho guanine nucleotide exchange factor gene DOID:10907 microcephaly ISO RGD:1318084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:32581362 12326520 TRIO trio Rho guanine nucleotide exchange factor gene DOID:12849 autistic disorder ISO RGD:1318084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12326520 TRIO trio Rho guanine nucleotide exchange factor gene DOID:1826 epilepsy ISO RGD:1318084 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12326520 TRIO trio Rho guanine nucleotide exchange factor gene DOID:630 genetic disease ISO RGD:1318084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10652265|PMID:17391702|PMID:22495306|PMID:23033978|PMID:24038936|PMID:25363768|PMID:25741868|PMID:26721934|PMID:27418539|PMID:28191890|PMID:28492532|PMID:28928363|PMID:28973398|PMID:32109419 12326520 TRIO trio Rho guanine nucleotide exchange factor gene DOID:9000372 Autosomal Dominant Intellectual Developmental Disorder 63 with Macrocephaly ISO RGD:1318084 D RGD:7240710 20200408 OMIM 12326520 TRIO trio Rho guanine nucleotide exchange factor gene DOID:9000372 Autosomal Dominant Intellectual Developmental Disorder 63 with Macrocephaly ISO RGD:1318084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY PMID:25741868|PMID:27418539|PMID:28492532|PMID:28796471|PMID:32109419 12326520 TRIO trio Rho guanine nucleotide exchange factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12326520 TRIO trio Rho guanine nucleotide exchange factor gene DOID:9007188 Liver Neoplasms ISO RGD:1318084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12326520 TRIO trio Rho guanine nucleotide exchange factor gene DOID:9008086 Developmental Disabilities ISO RGD:1318084 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:36937954 12326520 TRIO trio Rho guanine nucleotide exchange factor gene DOID:9008582 Developmental Disease ISO RGD:1318084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12326520 TRIO trio Rho guanine nucleotide exchange factor gene DOID:9119 acute myeloid leukemia ISO RGD:1318084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 12326520 TRIO trio Rho guanine nucleotide exchange factor gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12326585 ZSWIM7 zinc finger SWIM-type containing 7 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1606167 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:32719396|PMID:33713115 12326585 ZSWIM7 zinc finger SWIM-type containing 7 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1606167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 12326585 ZSWIM7 zinc finger SWIM-type containing 7 gene DOID:5223 infertility ISO RGD:1606167 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Infertility 12326585 ZSWIM7 zinc finger SWIM-type containing 7 gene DOID:630 genetic disease ISO RGD:1606167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12326585 ZSWIM7 zinc finger SWIM-type containing 7 gene DOID:9002412 Ovarian Dysgenesis 10 ISO RGD:1606167 D RGD:7240710 20220427 OMIM 12326585 ZSWIM7 zinc finger SWIM-type containing 7 gene DOID:9002412 Ovarian Dysgenesis 10 ISO RGD:1606167 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 10 PMID:25741868|PMID:32719396|PMID:33713115|PMID:34402903 12326585 ZSWIM7 zinc finger SWIM-type containing 7 gene DOID:9004400 Spermatogenic Failure 71 ISO RGD:1606167 D RGD:7240710 20220427 OMIM 12326585 ZSWIM7 zinc finger SWIM-type containing 7 gene DOID:9004400 Spermatogenic Failure 71 ISO RGD:1606167 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 71 PMID:25741868|PMID:32719396|PMID:33713115 12326605 MAGED2 MAGE family member D2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:734427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12326605 MAGED2 MAGE family member D2 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:734427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 12326605 MAGED2 MAGE family member D2 gene DOID:0110147 Bartter disease type 5 ISO RGD:734427 D RGD:7240710 20190315 OMIM 12326605 MAGED2 MAGE family member D2 gene DOID:0110147 Bartter disease type 5 ISO RGD:734427 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bartter disease type 5 PMID:25741868|PMID:27120771|PMID:28492532|PMID:29146702 12326605 MAGED2 MAGE family member D2 gene DOID:12849 autistic disorder ISO RGD:734427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12326605 MAGED2 MAGE family member D2 gene DOID:2785 Dandy-Walker syndrome ISO RGD:734427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome 12326605 MAGED2 MAGE family member D2 gene DOID:630 genetic disease ISO RGD:734427 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12326629 C10H22orf23 chromosome 10 C22orf23 homolog gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1351784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12326629 C10H22orf23 chromosome 10 C22orf23 homolog gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1351784 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12326629 C10H22orf23 chromosome 10 C22orf23 homolog gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1351784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12326629 C10H22orf23 chromosome 10 C22orf23 homolog gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1351784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12326629 C10H22orf23 chromosome 10 C22orf23 homolog gene DOID:630 genetic disease ISO RGD:1351784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12326643 H2AC19 H2A clustered histone 19 gene DOID:630 genetic disease ISO RGD:1312612 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12326648 MYBPC3 myosin binding protein C3 gene DOID:0050451 Brugada syndrome ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:12707239|PMID:18533079|PMID:20215591|PMID:21499742|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:23861362|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25351510|PMID:25741868|PMID:26914223|PMID:28492532 12326648 MYBPC3 myosin binding protein C3 gene DOID:0050451 Brugada syndrome ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:12707239|PMID:18533079|PMID:20215591|PMID:21499742|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:23861362|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25351510|PMID:25741868|PMID:26914223|PMID:28356264|PMID:28492532 12326648 MYBPC3 myosin binding protein C3 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis PMID:11499719|PMID:12974739|PMID:15519027|PMID:17560888|PMID:22464770|PMID:22763267|PMID:22995991|PMID:23217326|PMID:23233322|PMID:23820649|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26332594|PMID:28492532 12326648 MYBPC3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17386157|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20298698|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23785128|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26743238 12326648 MYBPC3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27854218|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28450932|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:2943217|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29555771|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30985088|PMID:31006259|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31293105|PMID:3140859|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32396390|PMID:32451163|PMID:32480058|PMID:32492895|PMID:32543992|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32880476|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33407484|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34540771|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 12326648 MYBPC3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23785128|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25640679|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621 12326648 MYBPC3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28265379|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:2943217|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29524613|PMID:29555771|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29988065|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30985088|PMID:31006259|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31293105|PMID:3140859|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31589614|PMID:31730716|PMID:31737537|PMID:31918855|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32396390|PMID:32451163|PMID:32480058|PMID:32492895|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32880476|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34540771|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 12326648 MYBPC3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25640679|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26654849 12326648 MYBPC3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29524613|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31323898|PMID:31376648|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32356610|PMID:32369506|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33432171|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 12326648 MYBPC3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29524613|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31323898|PMID:31376648|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32356610|PMID:32369506|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33432171|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 12326648 MYBPC3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198 12326648 MYBPC3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31376648|PMID:31397097|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33782553|PMID:34011823|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34935411|PMID:35535697|PMID:35626289|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 12326648 MYBPC3 myosin binding protein C3 gene DOID:0060319 cardiac arrest ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:14563344|PMID:15519027|PMID:16352453|PMID:20624503|PMID:22361390|PMID:23140321|PMID:23299917|PMID:23785128|PMID:24033266|PMID:24503780|PMID:24510615|PMID:25163546|PMID:25741868|PMID:28492532|PMID:33035702 12326648 MYBPC3 myosin binding protein C3 gene DOID:0060480 left ventricular noncompaction ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:14563344|PMID:15519027|PMID:16061003|PMID:16352453|PMID:17560888|PMID:18533079|PMID:18929575|PMID:19574547|PMID:19666645|PMID:19808356|PMID:20019025|PMID:20031619|PMID:20045868|PMID:20624503|PMID:21511876|PMID:21939669|PMID:22115648|PMID:22361390|PMID:22455086|PMID:23140321|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23674513|PMID:23711808|PMID:23740383|PMID:23785128|PMID:24033266|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25163546|PMID:25351510|PMID:25611685|PMID:25741868|PMID:25856671|PMID:26090888|PMID:26163040|PMID:27532257|PMID:27841901|PMID:28031081|PMID:28193612|PMID:28202948|PMID:28323875|PMID:28492532|PMID:28518168|PMID:28679633|PMID:29121657|PMID:29398688|PMID:29555771|PMID:29907873|PMID:30297972|PMID:31699567|PMID:31918855|PMID:32492895|PMID:33035702 12326648 MYBPC3 myosin binding protein C3 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:24033266|PMID:25741868|PMID:28492532|PMID:28600387 12326648 MYBPC3 myosin binding protein C3 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:24033266|PMID:25741868|PMID:28492532|PMID:28600387 12326648 MYBPC3 myosin binding protein C3 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1314284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12326648 MYBPC3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27153395|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763 12326648 MYBPC3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29247119|PMID:29367541|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29773157|PMID:29875314|PMID:29875424|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30297972|PMID:30446606|PMID:30550750|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31333075|PMID:31513939|PMID:31568572|PMID:31737537|PMID:32009526|PMID:32163302|PMID:32451163|PMID:32746448|PMID:32880476|PMID:33673806|PMID:34097875|PMID:34137518|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 12326648 MYBPC3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27153395|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168 12326648 MYBPC3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31293105|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31980526|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32451163|PMID:32480058|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32880476|PMID:33190526|PMID:33258288|PMID:33673806|PMID:34097875|PMID:34135346|PMID:34137518|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 12326648 MYBPC3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31293105|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31931689|PMID:31980526|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32451163|PMID:32480058|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32880476|PMID:33190526|PMID:33258288|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 12326648 MYBPC3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612 12326648 MYBPC3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32492895|PMID:32531501|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34588271|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 12326648 MYBPC3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32492895|PMID:32531501|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35535697|PMID:35626289|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 12326648 MYBPC3 myosin binding protein C3 gene DOID:0080502 GM1 gangliosidosis type 1 ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gangliosidosis, generalized GM1, infantile form PMID:18403758|PMID:18761664|PMID:20378854|PMID:23549607|PMID:24033266|PMID:25228707|PMID:25326637|PMID:25335496|PMID:27532257|PMID:28420666|PMID:28492532|PMID:30924982|PMID:31006259 12326648 MYBPC3 myosin binding protein C3 gene DOID:0081158 dilated cardiomyopathy 1MM ISO RGD:1314284 D RGD:7240710 20180130 OMIM 12326648 MYBPC3 myosin binding protein C3 gene DOID:0081158 dilated cardiomyopathy 1MM ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1MM | ClinVar Annotator: match by term: Left ventricular noncompaction 10 PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17908752|PMID:17937428|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24327208|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24793961|PMID:24810389|PMID:24835277|PMID:24865491|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26743238|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27096365|PMID:27108529|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465 12326648 MYBPC3 myosin binding protein C3 gene DOID:0081158 dilated cardiomyopathy 1MM ISO RGD:1314284 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1MM | ClinVar Annotator: match by term: Left ventricular noncompaction 10 PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28658286|PMID:28679633|PMID:28747690|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30282064|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30924982|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31199839|PMID:31219556|PMID:31323898|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31699567|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32356610|PMID:32396390|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33782553|PMID:34088380|PMID:34097875|PMID:34137518|PMID:34389451|PMID:34426522|PMID:34540771|PMID:34935411|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 12326648 MYBPC3 myosin binding protein C3 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:15519027|PMID:18533079|PMID:20414521|PMID:20624503|PMID:21415409|PMID:21835320|PMID:22765922|PMID:23233322|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24093860|PMID:25524337|PMID:25741868|PMID:25971843|PMID:26090888|PMID:27267291|PMID:28420666|PMID:28492532|PMID:28518168|PMID:30446606|PMID:30645170|PMID:30731207|PMID:30871747|PMID:30972196|PMID:31376648|PMID:31453232 12326648 MYBPC3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25163546|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27153395|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:2943217|PMID:29447731 12326648 MYBPC3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29663722|PMID:29686099|PMID:29759671|PMID:29790872|PMID:29875314|PMID:29875424|PMID:30025578|PMID:30165862|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31980526|PMID:32009526|PMID:32123317|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32880476|PMID:33190526|PMID:33258288|PMID:33673806|PMID:34097875|PMID:34135346|PMID:34137518|PMID:397516074|PMID:7493025|PMID:7493026|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053 12326648 MYBPC3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25163546|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25640679|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27153395|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:2943217 12326648 MYBPC3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29663722|PMID:29686099|PMID:29759671|PMID:29790872|PMID:29875314|PMID:29875424|PMID:30025578|PMID:30165862|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31980526|PMID:32009526|PMID:32123317|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32880476|PMID:33190526|PMID:33258288|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053 12326648 MYBPC3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32420109|PMID:32451163|PMID:32492895|PMID:32531501|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34588271|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053 12326648 MYBPC3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17224687|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997 12326648 MYBPC3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32420109|PMID:32451163|PMID:32492895|PMID:32531501|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35535697|PMID:35626289|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053 12326648 MYBPC3 myosin binding protein C3 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1314284 D RGD:7240710 20180130 OMIM 12326648 MYBPC3 myosin binding protein C3 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 4, susceptibility to | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11835941|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12881443|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15358028|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15856146|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17386157|PMID:17394878|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20542340|PMID:20605413|PMID:20624503|PMID:20641121|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21799269|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22989827|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716 12326648 MYBPC3 myosin binding protein C3 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 4, susceptibility to | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27114410|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28749478|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:2921289|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29451820|PMID:29493010|PMID:29511324|PMID:29517769|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32341788|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32860008|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33782553|PMID:34008892|PMID:34088380|PMID:34097875|PMID:34137518|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34542152|PMID:34598319|PMID:34935411|PMID:35535697|PMID:35626289|PMID:397516074|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:8655135|PMID:9048664|PMID:9218526|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 12326648 MYBPC3 myosin binding protein C3 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:11499718|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16858239|PMID:17560888|PMID:20045868|PMID:20215591|PMID:20435227|PMID:20474083|PMID:22337857|PMID:22763267|PMID:22958901|PMID:23283745|PMID:23299917|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24510615|PMID:24621997|PMID:24865491|PMID:25326637|PMID:25377941|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332594|PMID:26458567|PMID:26467025|PMID:27600940|PMID:28420666|PMID:28492532|PMID:28679633|PMID:31931689|PMID:31983221|PMID:33432171 12326648 MYBPC3 myosin binding protein C3 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:11499718|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16858239|PMID:17560888|PMID:20045868|PMID:20215591|PMID:20435227|PMID:20474083|PMID:22337857|PMID:22763267|PMID:22958901|PMID:23283745|PMID:23299917|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24510615|PMID:24621997|PMID:24865491|PMID:25377941|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332594|PMID:26458567|PMID:26467025|PMID:27600940|PMID:28420666|PMID:28492532|PMID:28679633|PMID:31931689|PMID:31983221|PMID:33432171 12326648 MYBPC3 myosin binding protein C3 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1314284 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:10521296|PMID:10610770|PMID:12110947|PMID:12117842|PMID:12386147|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:14563344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15519027|PMID:16199542|PMID:16651346|PMID:16831826|PMID:16858239|PMID:17576681|PMID:18403758|PMID:18414213|PMID:18533079|PMID:18761664|PMID:19035361|PMID:19150014|PMID:19574547|PMID:20378854|PMID:20433692|PMID:2073894|PMID:20738943|PMID:21239446|PMID:21302287|PMID:21472310|PMID:21835320|PMID:21839045|PMID:22057632|PMID:22267749|PMID:22765922|PMID:22857948|PMID:23054336|PMID:23233322|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24510615|PMID:24774285|PMID:24793961|PMID:25031304|PMID:25078086|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26822237|PMID:27483260|PMID:27532257|PMID:28492532|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28658286|PMID:28679633|PMID:29030401|PMID:29121657|PMID:29511324|PMID:29790872|PMID:30609409|PMID:30645170|PMID:31006259|PMID:31447099|PMID:31514951|PMID:32686758|PMID:32731933|PMID:32841044|PMID:9048664|PMID:9536098|PMID:9631872 12326648 MYBPC3 myosin binding protein C3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 12326648 MYBPC3 myosin binding protein C3 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1314284 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:11499718|PMID:12881443|PMID:12951062|PMID:15358028|PMID:15519027|PMID:15856146|PMID:16715312|PMID:18403758|PMID:18409188|PMID:18957093|PMID:19150014|PMID:19659763|PMID:20019025|PMID:20624503|PMID:21185001|PMID:21239446|PMID:21638988|PMID:22267749|PMID:22455086|PMID:22857948|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24510615|PMID:24704860|PMID:25031304|PMID:25741868|PMID:26671970|PMID:27532257|PMID:27688314|PMID:27737317|PMID:28024942|PMID:28492532|PMID:28615295|PMID:29121657|PMID:29447731|PMID:30847666|PMID:30871747|PMID:31447099|PMID:33673806|PMID:35535697|PMID:8655135|PMID:9562578 12326648 MYBPC3 myosin binding protein C3 gene DOID:10487 Hirschsprung's disease ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon PMID:25741868 12326648 MYBPC3 myosin binding protein C3 gene DOID:1059 intellectual disability ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:15519027|PMID:16199547|PMID:18957093|PMID:19574547|PMID:21750094|PMID:22267749|PMID:23674513|PMID:24033266|PMID:24510615|PMID:25525159|PMID:25637381|PMID:25741868|PMID:27096365|PMID:27532257|PMID:27831900|PMID:28492532|PMID:29029073 12326648 MYBPC3 myosin binding protein C3 gene DOID:1059 intellectual disability ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:15519027|PMID:16199547|PMID:18957093|PMID:19574547|PMID:21750094|PMID:22267749|PMID:23674513|PMID:24033266|PMID:24510615|PMID:25525159|PMID:25637381|PMID:25741868|PMID:27096365|PMID:27532257|PMID:27831900|PMID:28492532|PMID:29029073|PMID:31447099|PMID:32686758|PMID:33258288 12326648 MYBPC3 myosin binding protein C3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11835941|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386140|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15370892|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16799241|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17386157|PMID:17394878|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17643520|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18803133|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19406073|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19763152|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20307669|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20594303|PMID:20605413|PMID:20624503|PMID:20641121|PMID:20689143|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21896538|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22314326|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22406018|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22989827|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23406853|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25228707|PMID:25262865|PMID:25281569|PMID:25326637|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708 12326648 MYBPC3 myosin binding protein C3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25447171|PMID:25512492|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27066507|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28450932|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28694399|PMID:28699631|PMID:28747690|PMID:28749478|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28822653|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:2921289|PMID:29212898|PMID:29219260|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29415625|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29451820|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29631964|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30924982|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31112421|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32341788|PMID:32344918|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32764337|PMID:32815737 12326648 MYBPC3 myosin binding protein C3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:32826072|PMID:32830170|PMID:32841044|PMID:32860008|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33586461|PMID:33658040|PMID:33673806|PMID:33782553|PMID:34011823|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35508642|PMID:35535697|PMID:35626289|PMID:397516074|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9218526|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541100|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 12326648 MYBPC3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29875424|PMID:30165862|PMID:30972196|PMID:31006259|PMID:31028938|PMID:32009526|PMID:9048664|PMID:9562578 12326648 MYBPC3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29875424|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31447099|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32686758|PMID:9048664|PMID:9562578 12326648 MYBPC3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29875424|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31447099|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32686758|PMID:33782553|PMID:34097875|PMID:9048664|PMID:9562578 12326648 MYBPC3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:33190526|PMID:33432171|PMID:33782553|PMID:34097875|PMID:34389451|PMID:9048664|PMID:9562578 12326648 MYBPC3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:33190526|PMID:33432171|PMID:33782553|PMID:34097875|PMID:34389451|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578 12326648 MYBPC3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:33190526|PMID:33432171|PMID:33782553|PMID:34097875|PMID:34389451|PMID:34935411|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578 12326648 MYBPC3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27885498|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:32841044|PMID:33190526|PMID:33432171|PMID:33782553|PMID:34097875|PMID:34389451|PMID:34426522|PMID:34935411|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578 12326648 MYBPC3 myosin binding protein C3 gene DOID:2843 long QT syndrome ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:16335287|PMID:16715312|PMID:18533079|PMID:18957093|PMID:19574547|PMID:19996403|PMID:20215591|PMID:20458009|PMID:20624503|PMID:20800588|PMID:21310275|PMID:22429680|PMID:22763267|PMID:22857948|PMID:22958901|PMID:23140321|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24721642|PMID:25163546|PMID:25342278|PMID:25524337|PMID:25741868|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27532257|PMID:28492532|PMID:28679633|PMID:28771489|PMID:30297972|PMID:32746448|PMID:33673806 12326648 MYBPC3 myosin binding protein C3 gene DOID:2843 long QT syndrome ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16335287|PMID:16715312|PMID:18533079|PMID:18957093|PMID:19574547|PMID:19996403|PMID:20215591|PMID:20458009|PMID:20624503|PMID:20800588|PMID:21310275|PMID:22429680|PMID:22763267|PMID:22857948|PMID:22958901|PMID:23140321|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24721642|PMID:25163546|PMID:25342278|PMID:25524337|PMID:25741868|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27532257|PMID:28138913|PMID:28492532|PMID:28679633|PMID:28771489|PMID:29255176|PMID:29853478|PMID:30297972|PMID:30847666|PMID:31323898|PMID:32746448|PMID:33673806|PMID:33782553 12326648 MYBPC3 myosin binding protein C3 gene DOID:3322 GM1 gangliosidosis ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GLB1 deficiency PMID:18403758|PMID:18761664|PMID:20378854|PMID:23549607|PMID:24033266|PMID:25228707|PMID:25326637|PMID:25335496|PMID:27532257|PMID:28420666|PMID:28492532|PMID:30924982|PMID:31006259 12326648 MYBPC3 myosin binding protein C3 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1314284 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:16858239|PMID:18533079|PMID:19150014|PMID:20031602|PMID:20173211|PMID:20414521|PMID:20624503|PMID:20800588|PMID:21415409|PMID:21750094|PMID:21835320|PMID:22765922|PMID:23233322|PMID:23299917|PMID:23508784|PMID:23690394|PMID:24033266|PMID:24093860|PMID:24793961|PMID:25351510|PMID:25524337|PMID:25741868|PMID:25971843|PMID:26090888|PMID:27108529|PMID:27267291|PMID:27483260|PMID:27532257|PMID:27590665|PMID:27600940|PMID:28193612|PMID:28241245|PMID:28356264|PMID:28420666|PMID:28492532|PMID:28518168|PMID:28798025|PMID:28840316|PMID:28986452|PMID:30297972|PMID:30446606|PMID:30645170|PMID:30731207|PMID:30871747|PMID:30972196|PMID:31376648|PMID:31453232|PMID:31941943 12326648 MYBPC3 myosin binding protein C3 gene DOID:574 peripheral nervous system disease ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:22958901|PMID:24793961|PMID:25741868|PMID:27532257|PMID:28492532|PMID:33782553 12326648 MYBPC3 myosin binding protein C3 gene DOID:630 genetic disease ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17937428|PMID:18258667|PMID:18403758|PMID:18467358|PMID:19574547|PMID:19808356|PMID:21750094|PMID:21835286|PMID:23054336|PMID:24033266|PMID:24503780|PMID:24510615|PMID:25031304|PMID:25351510|PMID:25635128|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28214152|PMID:28492532|PMID:29121657|PMID:29212898|PMID:30297972|PMID:30847666|PMID:31447099|PMID:32880476|PMID:7493025 12326648 MYBPC3 myosin binding protein C3 gene DOID:870 neuropathy ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:22958901|PMID:24793961|PMID:25741868|PMID:27532257|PMID:28492532|PMID:33782553 12326648 MYBPC3 myosin binding protein C3 gene DOID:9000299 cardiac amyloidosis ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:11499719|PMID:12974739|PMID:15519027|PMID:17560888|PMID:22464770|PMID:22763267|PMID:22995991|PMID:23217326|PMID:23233322|PMID:23820649|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26332594|PMID:28492532 12326648 MYBPC3 myosin binding protein C3 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:12707239|PMID:12818575|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16199542|PMID:18258667|PMID:18403758|PMID:18409188|PMID:18761664|PMID:18809796|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20378854|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21310275|PMID:21551322|PMID:21839045|PMID:21959974|PMID:22267749|PMID:22386539|PMID:22563033|PMID:22589294|PMID:22958901|PMID:23299917|PMID:23396983|PMID:23642604|PMID:23690394|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24510615|PMID:24793961|PMID:24810389|PMID:25058872|PMID:25132132|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26633542|PMID:27532257|PMID:27600940|PMID:27831900|PMID:27885498|PMID:28408708|PMID:28416588|PMID:28492532|PMID:28679633|PMID:29121657|PMID:29875424|PMID:30316040|PMID:30471092|PMID:30611859|PMID:30847666|PMID:30924982|PMID:31006259|PMID:31333075|PMID:31447099|PMID:31568572|PMID:31980526|PMID:32686758|PMID:32841044|PMID:33495597|PMID:34426522|PMID:34540771|PMID:9562578 12326648 MYBPC3 myosin binding protein C3 gene DOID:9000590 Dyspnea ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dyspnea PMID:17576681|PMID:20433692|PMID:20800588|PMID:23283745|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|PMID:28679633|PMID:2943217|PMID:30645170|PMID:30775854|PMID:9536098 12326648 MYBPC3 myosin binding protein C3 gene DOID:9000596 Isolated Noncompaction of the Ventricular Myocardium ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated Noncompaction of the Ventricular Myocardium PMID:25741868 12326648 MYBPC3 myosin binding protein C3 gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:11499719|PMID:12974739|PMID:15519027|PMID:17560888|PMID:22464770|PMID:22763267|PMID:22995991|PMID:23217326|PMID:23233322|PMID:23820649|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26332594|PMID:28492532 12326648 MYBPC3 myosin binding protein C3 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:15519027|PMID:16858239|PMID:17576681|PMID:18273486|PMID:18533079|PMID:20215591|PMID:21415409|PMID:21499742|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:22555271|PMID:23054336|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24510615|PMID:25031304|PMID:25351510|PMID:25740977|PMID:25741868|PMID:26914223|PMID:27483260|PMID:27532257|PMID:27688314|PMID:28138913|PMID:28356264|PMID:28492532|PMID:28658286|PMID:28679633|PMID:28824454|PMID:28916354|PMID:28971120|PMID:34137518|PMID:9536098 12326648 MYBPC3 myosin binding protein C3 gene DOID:9002554 Tachycardia ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Tachycardia PMID:17576681|PMID:20433692|PMID:20800588|PMID:23283745|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|PMID:28679633|PMID:2943217|PMID:30645170|PMID:30775854|PMID:9536098 12326648 MYBPC3 myosin binding protein C3 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:12707239|PMID:18533079|PMID:20215591|PMID:21499742|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:23861362|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25351510|PMID:25741868|PMID:26914223|PMID:28356264|PMID:28492532 12326648 MYBPC3 myosin binding protein C3 gene DOID:9003163 Heart Block ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart | ClinVar Annotator: match by term: Heart block PMID:15519027|PMID:16858239|PMID:17576681|PMID:18273486|PMID:18533079|PMID:20215591|PMID:20433692|PMID:20800588|PMID:21415409|PMID:21499742|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:22555271|PMID:23054336|PMID:23283745|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24510615|PMID:25031304|PMID:25351510|PMID:25740977|PMID:25741868|PMID:26914223|PMID:27483260|PMID:27532257|PMID:27688314|PMID:28138913|PMID:28356264|PMID:28492532|PMID:28658286|PMID:28679633|PMID:28824454|PMID:28916354|PMID:28971120|PMID:2943217|PMID:30645170|PMID:30775854|PMID:34137518|PMID:9536098 12326648 MYBPC3 myosin binding protein C3 gene DOID:9003936 Cardiomegaly ISO RGD:1314284 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22189562 12326648 MYBPC3 myosin binding protein C3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:11499719|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16715312|PMID:16754800|PMID:18403758|PMID:18409188|PMID:18761664|PMID:18957093|PMID:19574547|PMID:20051424|PMID:20215591|PMID:21297165|PMID:21409595|PMID:21415409|PMID:21551322|PMID:21985754|PMID:22173300|PMID:22337857|PMID:22455086|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24774606|PMID:24795128|PMID:25031304|PMID:25335496|PMID:25351510|PMID:25637381|PMID:25741868|PMID:25892673|PMID:26223264|PMID:26271555|PMID:27066506|PMID:27435932|PMID:27532257|PMID:27576561|PMID:27600940|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28615295|PMID:28640247|PMID:29121657|PMID:29686099|PMID:30025578|PMID:30550750|PMID:30847666|PMID:31006259|PMID:31513939|PMID:31737537|PMID:33673806 12326648 MYBPC3 myosin binding protein C3 gene DOID:9006205 Animal Disease Models ISO RGD:1314284 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25566086 12326648 MYBPC3 myosin binding protein C3 gene DOID:9007 sudden infant death syndrome ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:11499718|PMID:11499719|PMID:12707239|PMID:15519027|PMID:24033266|PMID:24510615|PMID:24793961|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28492532|PMID:29121657|PMID:30165862|PMID:31028938|PMID:9048664|PMID:9562578 12326648 MYBPC3 myosin binding protein C3 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction | ClinVar Annotator: match by term: Ventricular extrasystoles PMID:11499718|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16858239|PMID:17576681|PMID:20045868|PMID:20433692|PMID:20435227|PMID:20800588|PMID:23283745|PMID:23782526|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:27600940|PMID:28492532|PMID:28679633|PMID:2943217|PMID:30645170|PMID:30775854|PMID:9536098 12326648 MYBPC3 myosin binding protein C3 gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS PMID:11499718|PMID:12202917|PMID:15519027|PMID:20474083|PMID:20864638|PMID:23549607|PMID:24033266|PMID:24510615|PMID:25031304|PMID:25714468|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29875314|PMID:7493025 12326648 MYBPC3 myosin binding protein C3 gene DOID:9007614 Paroxysmal Atrial Fibrillation ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal atrial fibrillation PMID:12818575|PMID:14563344|PMID:15114369|PMID:15519027|PMID:20215591|PMID:22194935|PMID:22958901|PMID:23299917|PMID:23418287|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24503780|PMID:25741868|PMID:27153395|PMID:27532257|PMID:28492532|PMID:29367541|PMID:29540472|PMID:32880476 12326648 MYBPC3 myosin binding protein C3 gene DOID:9007820 Sudden Death ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death 12326648 MYBPC3 myosin binding protein C3 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1314284 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20435227 12326693 CDH20 cadherin 20 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1313468 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12326693 CDH20 cadherin 20 gene DOID:11193 syndactyly ISO RGD:1313468 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Non-syndromic syndactyly PMID:25741868 12326693 CDH20 cadherin 20 gene DOID:630 genetic disease ISO RGD:1313468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12326730 CPNE4 copine 4 gene DOID:630 genetic disease ISO RGD:1318850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12326730 CPNE4 copine 4 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1318850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12326730 CPNE4 copine 4 gene DOID:9270 alkaptonuria ISO RGD:1318850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12326751 MTX3 metaxin 3 gene DOID:630 genetic disease ISO RGD:1601695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12326751 MTX3 metaxin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12326770 CDON cell adhesion associated, oncogene regulated gene DOID:0060857 septooptic dysplasia ISO RGD:733697 D RGD:9068941 20200609 RGD PMID:27935818|REF_RGD_ID:12801420 12326770 CDON cell adhesion associated, oncogene regulated gene DOID:0110877 holoprosencephaly 11 ISO RGD:1345886 D RGD:7240710 20180130 OMIM 12326770 CDON cell adhesion associated, oncogene regulated gene DOID:0110877 holoprosencephaly 11 ISO RGD:1345886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:16199547|PMID:17576681|PMID:20301702|PMID:21802063|PMID:25741868|PMID:26529631|PMID:26728615|PMID:28492532|PMID:31502381|PMID:9536098 12326770 CDON cell adhesion associated, oncogene regulated gene DOID:0110881 holoprosencephaly 1 ISO RGD:1345886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 1 PMID:25741868|PMID:28492532 12326770 CDON cell adhesion associated, oncogene regulated gene DOID:0111723 Jacobsen Syndrome ISO RGD:1345886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12326770 CDON cell adhesion associated, oncogene regulated gene DOID:10907 microcephaly ISO RGD:1345886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12326770 CDON cell adhesion associated, oncogene regulated gene DOID:12270 coloboma ISO RGD:1345886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma 12326770 CDON cell adhesion associated, oncogene regulated gene DOID:4621 holoprosencephaly ISO RGD:1345886 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Holoprosencephaly spectrum disorder PMID:20301702|PMID:26728615|PMID:28492532 12326770 CDON cell adhesion associated, oncogene regulated gene DOID:5419 schizophrenia ISO RGD:1345886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12326770 CDON cell adhesion associated, oncogene regulated gene DOID:630 genetic disease ISO RGD:1345886 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12326770 CDON cell adhesion associated, oncogene regulated gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1345886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868|PMID:26529631 12326770 CDON cell adhesion associated, oncogene regulated gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12326770 CDON cell adhesion associated, oncogene regulated gene DOID:9007284 Precocious Puberty ISO RGD:1345886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral precocious puberty 12326770 CDON cell adhesion associated, oncogene regulated gene DOID:9007661 Dwarfism ISO RGD:1345886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12326770 CDON cell adhesion associated, oncogene regulated gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12326803 PRPSAP2 phosphoribosyl pyrophosphate synthetase associated protein 2 gene DOID:0050777 Joubert syndrome ISO RGD:732905 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12326803 PRPSAP2 phosphoribosyl pyrophosphate synthetase associated protein 2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:732905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12326803 PRPSAP2 phosphoribosyl pyrophosphate synthetase associated protein 2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:732905 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12326803 PRPSAP2 phosphoribosyl pyrophosphate synthetase associated protein 2 gene DOID:12849 autistic disorder ISO RGD:732905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12326803 PRPSAP2 phosphoribosyl pyrophosphate synthetase associated protein 2 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:732905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 12326822 CES2 carboxylesterase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:736535 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12326822 CES2 carboxylesterase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:736535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12326822 CES2 carboxylesterase 2 gene DOID:0110255 cataract 5 multiple types ISO RGD:736535 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 12326822 CES2 carboxylesterase 2 gene DOID:630 genetic disease ISO RGD:736535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12326822 CES2 carboxylesterase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 12326822 CES2 carboxylesterase 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:736535 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19710369 12326822 CES2 carboxylesterase 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19931604 12326907 TMUB2 transmembrane and ubiquitin like domain containing 2 gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1604292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 12326907 TMUB2 transmembrane and ubiquitin like domain containing 2 gene DOID:630 genetic disease ISO RGD:1604292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12326925 GRID2IP Grid2 interacting protein gene DOID:10652 Alzheimer's disease ISO RGD:1351156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early onset PMID:25741868 12326925 GRID2IP Grid2 interacting protein gene DOID:630 genetic disease ISO RGD:1351156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12326953 TMEM225 transmembrane protein 225 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1605235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12326953 TMEM225 transmembrane protein 225 gene DOID:5419 schizophrenia ISO RGD:1605235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12326953 TMEM225 transmembrane protein 225 gene DOID:630 genetic disease ISO RGD:1605235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12326953 TMEM225 transmembrane protein 225 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12326953 TMEM225 transmembrane protein 225 gene DOID:9007661 Dwarfism ISO RGD:1605235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12326961 PICK1 protein interacting with PRKCA 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:69496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12326961 PICK1 protein interacting with PRKCA 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:69496 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12326961 PICK1 protein interacting with PRKCA 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:69496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12326961 PICK1 protein interacting with PRKCA 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:69496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12326961 PICK1 protein interacting with PRKCA 1 gene DOID:630 genetic disease ISO RGD:69496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12326961 PICK1 protein interacting with PRKCA 1 gene DOID:670 amphetamine abuse ISO RGD:69496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17606663 12326961 PICK1 protein interacting with PRKCA 1 gene DOID:8646 substance-induced psychosis ISO RGD:69496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17606663 12326980 RAB40C RAB40C, member RAS oncogene family gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1349011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12326980 RAB40C RAB40C, member RAS oncogene family gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1349011 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12326980 RAB40C RAB40C, member RAS oncogene family gene DOID:1826 epilepsy ISO RGD:1349011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12326980 RAB40C RAB40C, member RAS oncogene family gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1349011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12326980 RAB40C RAB40C, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1349011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12326992 HMG20B high mobility group 20B gene DOID:630 genetic disease ISO RGD:1347672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12326992 HMG20B high mobility group 20B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12327019 KLF17 KLF transcription factor 17 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12327019 KLF17 KLF transcription factor 17 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1344784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12327019 KLF17 KLF transcription factor 17 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12327019 KLF17 KLF transcription factor 17 gene DOID:630 genetic disease ISO RGD:1344784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327031 ENTR1 endosome associated trafficking regulator 1 gene DOID:0050777 Joubert syndrome ISO RGD:1314253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12327031 ENTR1 endosome associated trafficking regulator 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1314253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12327031 ENTR1 endosome associated trafficking regulator 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1314253 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12327031 ENTR1 endosome associated trafficking regulator 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1314253 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12327031 ENTR1 endosome associated trafficking regulator 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1314253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12327031 ENTR1 endosome associated trafficking regulator 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1314253 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12327031 ENTR1 endosome associated trafficking regulator 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1314253 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12327031 ENTR1 endosome associated trafficking regulator 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1314253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12327031 ENTR1 endosome associated trafficking regulator 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1314253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12327031 ENTR1 endosome associated trafficking regulator 1 gene DOID:3652 Leigh disease ISO RGD:1314253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12327031 ENTR1 endosome associated trafficking regulator 1 gene DOID:630 genetic disease ISO RGD:1314253 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327031 ENTR1 endosome associated trafficking regulator 1 gene DOID:9005249 Immunodeficiency 103 ISO RGD:1314253 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS PMID:28492532 12327031 ENTR1 endosome associated trafficking regulator 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1314253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 12327048 GPRASP2 G protein-coupled receptor associated sorting protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1614131 D RGD:9068941 20220825 MouseDO 12327048 GPRASP2 G protein-coupled receptor associated sorting protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12327048 GPRASP2 G protein-coupled receptor associated sorting protein 2 gene DOID:0111738 X-linked deafness 7 ISO RGD:1346303 D RGD:7240710 20200325 OMIM 12327048 GPRASP2 G protein-coupled receptor associated sorting protein 2 gene DOID:0111738 X-linked deafness 7 ISO RGD:1346303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome PMID:25741868 12327048 GPRASP2 G protein-coupled receptor associated sorting protein 2 gene DOID:1059 intellectual disability ISO RGD:1614131 D RGD:9068941 20220825 MouseDO 12327048 GPRASP2 G protein-coupled receptor associated sorting protein 2 gene DOID:12849 autistic disorder ISO RGD:1346303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12327048 GPRASP2 G protein-coupled receptor associated sorting protein 2 gene DOID:630 genetic disease ISO RGD:1346303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327055 LY9 lymphocyte antigen 9 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1318055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 12327055 LY9 lymphocyte antigen 9 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1318055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12327055 LY9 lymphocyte antigen 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1318055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12327055 LY9 lymphocyte antigen 9 gene DOID:630 genetic disease ISO RGD:1318055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327055 LY9 lymphocyte antigen 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12327085 TMEM50B transmembrane protein 50B gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12327085 TMEM50B transmembrane protein 50B gene DOID:0060898 Parkinson's disease 20 ISO RGD:1316828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12327085 TMEM50B transmembrane protein 50B gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12327085 TMEM50B transmembrane protein 50B gene DOID:0111995 immunodeficiency 28 ISO RGD:1316828 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 28 PMID:17576681|PMID:28492532|PMID:29106381|PMID:9536098 12327085 TMEM50B transmembrane protein 50B gene DOID:630 genetic disease ISO RGD:1316828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327085 TMEM50B transmembrane protein 50B gene DOID:9004697 Interferon Gamma, Receptor 1, Deficiency ISO RGD:1316828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interferon gamma receptor deficiency PMID:28492532 12327085 TMEM50B transmembrane protein 50B gene DOID:9005698 ZTTK Syndrome ISO RGD:1316828 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 12327175 DPY30 dpy-30 histone methyltransferase complex regulatory subunit gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1603291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 PMID:28492532 12327175 DPY30 dpy-30 histone methyltransferase complex regulatory subunit gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1603291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914|PMID:28492532 12327175 DPY30 dpy-30 histone methyltransferase complex regulatory subunit gene DOID:607 paraplegia ISO RGD:1603291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 12327175 DPY30 dpy-30 histone methyltransferase complex regulatory subunit gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:1603291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis PMID:28492532 12327194 RPL35A ribosomal protein L35a gene DOID:0111883 Diamond-Blackfan anemia 5 ISO RGD:733438 D RGD:7240710 20180130 OMIM 12327194 RPL35A ribosomal protein L35a gene DOID:0111883 Diamond-Blackfan anemia 5 ISO RGD:733438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 PMID:16199547|PMID:17576681|PMID:18535205|PMID:22262766|PMID:22689679|PMID:25424902|PMID:25741868|PMID:25946618|PMID:28492532|PMID:32241839|PMID:9536098 12327194 RPL35A ribosomal protein L35a gene DOID:1339 Diamond-Blackfan anemia ISO RGD:733438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:18535205|PMID:25424902|PMID:25741868|PMID:25946618|PMID:28492532 12327194 RPL35A ribosomal protein L35a gene DOID:3068 glioblastoma ISO RGD:733438 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (human) PMID:10880769|REF_RGD_ID:11535077 12327203 SERPINA3 serpin family A member 3 gene DOID:0081063 DICER1 syndrome ISO RGD:1343168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 12327203 SERPINA3 serpin family A member 3 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1343168 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:2432615|REF_RGD_ID:5147458 12327203 SERPINA3 serpin family A member 3 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1343168 D RGD:9068941 20200806 RGD mRNA,protein:increased expression:frontal cortex: PMID:29142239|REF_RGD_ID:36947868 12327203 SERPINA3 serpin family A member 3 gene DOID:1485 cystic fibrosis severity ISO RGD:1343168 D RGD:9068941 20200609 RGD PMID:11120905|REF_RGD_ID:5147439 12327203 SERPINA3 serpin family A member 3 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1343168 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16649161|REF_RGD_ID:5147434 12327203 SERPINA3 serpin family A member 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1343168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANTICHYMOTRYPSIN BONN 1 PMID:1351206|PMID:8102759|PMID:8244391 12327203 SERPINA3 serpin family A member 3 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1343168 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.A-15T (human) PMID:10849024|REF_RGD_ID:5147441 12327203 SERPINA3 serpin family A member 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1343168 D RGD:9068941 20200609 RGD protein:increased expression:cytoplasm PMID:8620411|REF_RGD_ID:5147446 12327203 SERPINA3 serpin family A member 3 gene DOID:630 genetic disease ISO RGD:1343168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327203 SERPINA3 serpin family A member 3 gene DOID:784 chronic kidney disease ISO RGD:1343168 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35635602 12327203 SERPINA3 serpin family A member 3 gene DOID:865 vasculitis ISO RGD:1343168 D RGD:9068941 20200609 RGD PMID:12685871|REF_RGD_ID:1580110 12327203 SERPINA3 serpin family A member 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18383875 12327203 SERPINA3 serpin family A member 3 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1343168 D RGD:9068941 20200609 RGD PMID:12126519|REF_RGD_ID:1580109 12327203 SERPINA3 serpin family A member 3 gene DOID:9005420 Peripheral Arterial Occlusive Disease 1 ISO RGD:1343168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral arterial occlusive disease 1 PMID:11289720|PMID:1618300|PMID:25741868|PMID:9040504 12327203 SERPINA3 serpin family A member 3 gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:1343168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANTICHYMOTRYPSIN ISEHARA 1 PMID:11289720|PMID:1618300|PMID:25741868|PMID:9040504 12327203 SERPINA3 serpin family A member 3 gene DOID:9007557 Laryngeal Papillomatosis ISO RGD:1343168 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:16273852|REF_RGD_ID:5147435 12327203 SERPINA3 serpin family A member 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1343168 D RGD:9068941 20200609 RGD PMID:7562495|REF_RGD_ID:5147423 12327203 SERPINA3 serpin family A member 3 gene DOID:9455 lipid storage disease ISO RGD:1343168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557 12327215 TEX2 testis expressed 2 gene DOID:0080600 COVID-19 ISO RGD:1603633 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12327215 TEX2 testis expressed 2 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1603633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 12327215 TEX2 testis expressed 2 gene DOID:630 genetic disease ISO RGD:1603633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327236 BRINP1 BMP/retinoic acid inducible neural specific 1 gene DOID:0060041 autism spectrum disorder ISO RGD:734244 D RGD:9068941 20220825 MouseDO 12327236 BRINP1 BMP/retinoic acid inducible neural specific 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:734244 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 12327236 BRINP1 BMP/retinoic acid inducible neural specific 1 gene DOID:630 genetic disease ISO RGD:1352710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327248 POLD2 DNA polymerase delta 2, accessory subunit gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12327248 POLD2 DNA polymerase delta 2, accessory subunit gene DOID:630 genetic disease ISO RGD:1312693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12327249 OR4P4 olfactory receptor family 4 subfamily P member 4 gene DOID:1059 intellectual disability ISO RGD:1349189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12327249 OR4P4 olfactory receptor family 4 subfamily P member 4 gene DOID:630 genetic disease ISO RGD:1349189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327252 KLF1 KLF transcription factor 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1319723 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12327252 KLF1 KLF transcription factor 1 gene DOID:0090016 chromosome 5q deletion syndrome ISO RGD:1319723 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone marrow, blood PMID:22965552|REF_RGD_ID:10769343 12327252 KLF1 KLF transcription factor 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1319723 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12327252 KLF1 KLF transcription factor 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1319723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11825066|PMID:11854167|PMID:16602100|PMID:17576681|PMID:19486177|PMID:25735478|PMID:25741868|PMID:27250579|PMID:28492532|PMID:31536184|PMID:7795610|PMID:9536098 12327252 KLF1 KLF transcription factor 1 gene DOID:0111400 congenital dyserythropoietic anemia type IV ISO RGD:1319723 D RGD:7240710 20191009 OMIM 12327252 KLF1 KLF transcription factor 1 gene DOID:0111400 congenital dyserythropoietic anemia type IV ISO RGD:1319723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia type 4 | ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type IV PMID:11825066|PMID:1659863|PMID:17576681|PMID:21055716|PMID:21778342|PMID:23125034|PMID:23522491|PMID:24033266|PMID:25741868|PMID:27013732|PMID:28102861|PMID:28492532|PMID:29200155|PMID:29300242|PMID:29396846|PMID:31536184|PMID:7795610|PMID:9536098 12327252 KLF1 KLF transcription factor 1 gene DOID:12241 beta thalassemia ISO RGD:1319724 D RGD:9068941 20220825 MouseDO OMIM:187550 | OMIM:603902 | OMIM:613985 12327252 KLF1 KLF transcription factor 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1319724 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.E339D (1065A>T) (human) PMID:20691777|REF_RGD_ID:10769342 12327252 KLF1 KLF transcription factor 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1319724 D RGD:9068941 20220825 MouseDO 12327252 KLF1 KLF transcription factor 1 gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1319723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12327252 KLF1 KLF transcription factor 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1319723 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone marrow, blood PMID:22965552|REF_RGD_ID:10769343 12327252 KLF1 KLF transcription factor 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1319723 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12327252 KLF1 KLF transcription factor 1 gene DOID:630 genetic disease ISO RGD:1319723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12327252 KLF1 KLF transcription factor 1 gene DOID:74 hematopoietic system disease ISO RGD:1319723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20676099 12327252 KLF1 KLF transcription factor 1 gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1319723 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:28492532 12327252 KLF1 KLF transcription factor 1 gene DOID:9005515 Therapy-related Acute Myeloid Leukemia ISO RGD:1319723 D RGD:9068941 20200609 RGD PMID:12417757|REF_RGD_ID:10769345 12327252 KLF1 KLF transcription factor 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1319723 D RGD:9068941 20200609 RGD PMID:19097174|REF_RGD_ID:10769344 12327259 TCN2 transcobalamin 2 gene DOID:0050818 transcobalamin II deficiency ISO RGD:1347590 D RGD:7240710 20180130 OMIM 12327259 TCN2 transcobalamin 2 gene DOID:0050818 transcobalamin II deficiency ISO RGD:1347590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Transcobalamin II deficiency PMID:10518276|PMID:12091374|PMID:12194912|PMID:12707225|PMID:14632784|PMID:16199547|PMID:17220211|PMID:17576681|PMID:19373259|PMID:20352340|PMID:20607612|PMID:22188304|PMID:24033266|PMID:2430590|PMID:25741868|PMID:27155006|PMID:28492532|PMID:29631995|PMID:32888943|PMID:7849710|PMID:7980584|PMID:9536098 12327259 TCN2 transcobalamin 2 gene DOID:0080600 COVID-19 ISO RGD:1347590 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12327259 TCN2 transcobalamin 2 gene DOID:12450 pancytopenia ISO RGD:1347590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pancytopenia PMID:16199547|PMID:20352340|PMID:28492532|PMID:7980584 12327259 TCN2 transcobalamin 2 gene DOID:12849 autistic disorder ISO RGD:1347590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16917939 12327259 TCN2 transcobalamin 2 gene DOID:13382 megaloblastic anemia ISO RGD:1347590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4627864 12327259 TCN2 transcobalamin 2 gene DOID:13382 megaloblastic anemia ISO RGD:1347590 D RGD:9068941 20200609 RGD PMID:7849710|REF_RGD_ID:1580450 12327259 TCN2 transcobalamin 2 gene DOID:14330 Parkinson's disease ISO RGD:1347590 D RGD:9068941 20200609 RGD PMID:20027219|REF_RGD_ID:11060125 12327259 TCN2 transcobalamin 2 gene DOID:2917 cryoglobulinemia ISO RGD:1347590 D RGD:9068941 20200609 RGD associated with Glomerulonephritis;protein:increased expression:serum: PMID:3574578|REF_RGD_ID:11060121 12327259 TCN2 transcobalamin 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29379198 12327259 TCN2 transcobalamin 2 gene DOID:630 genetic disease ISO RGD:1347590 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20352340|PMID:25741868|PMID:28492532|PMID:7980584 12327259 TCN2 transcobalamin 2 gene DOID:657 adenoma ISO RGD:1347590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17389618 12327259 TCN2 transcobalamin 2 gene DOID:9000300 Refractory Anemia ISO RGD:1347590 D RGD:9068941 20200609 RGD protein:increased expression:: PMID:1059479|REF_RGD_ID:11060122 12327259 TCN2 transcobalamin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12327259 TCN2 transcobalamin 2 gene DOID:9002473 Blast Crisis ISO RGD:1347590 D RGD:9068941 20200609 RGD protein:increased expression:: PMID:1059479|REF_RGD_ID:11060122 12327259 TCN2 transcobalamin 2 gene DOID:9002704 Leukoencephalopathies ISO RGD:1347590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15753437 12327259 TCN2 transcobalamin 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1347590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15753437 12327259 TCN2 transcobalamin 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1347590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17389618 12327259 TCN2 transcobalamin 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1347590 D RGD:9068941 20200609 RGD protein:increased expression:: PMID:1059479|REF_RGD_ID:11060122 12327259 TCN2 transcobalamin 2 gene DOID:9296 cleft lip ISO RGD:1347590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16470748 12327259 TCN2 transcobalamin 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1347590 D RGD:9068941 20200609 RGD protein:altered activity:plasma: PMID:8754152|REF_RGD_ID:11059889 12327273 EPHB3 EPH receptor B3 gene DOID:0111546 Currarino syndrome ISO RGD:1313727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12327273 EPHB3 EPH receptor B3 gene DOID:12365 malaria ISO RGD:1305602 D RGD:9068941 20210625 RGD PMID:25784101|REF_RGD_ID:127285023 12327273 EPHB3 EPH receptor B3 gene DOID:630 genetic disease ISO RGD:1313727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327292 HEPACAM hepatic and glial cell adhesion molecule gene DOID:0060041 autism spectrum disorder ISO RGD:1605560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30763456 12327292 HEPACAM hepatic and glial cell adhesion molecule gene DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts ISO RGD:1605560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts PMID:21419380|PMID:25741868|PMID:28492532 12327292 HEPACAM hepatic and glial cell adhesion molecule gene DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 ISO RGD:1605560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 PMID:25741868|PMID:28492532|PMID:29389947|PMID:29915382 12327292 HEPACAM hepatic and glial cell adhesion molecule gene DOID:0080317 megalencephalic leukoencephalopathy with subcortical cysts 2B ISO RGD:1605560 D RGD:7240710 20180130 OMIM 12327292 HEPACAM hepatic and glial cell adhesion molecule gene DOID:0080317 megalencephalic leukoencephalopathy with subcortical cysts 2B ISO RGD:1605560 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability PMID:21419380|PMID:25044933|PMID:25741868|PMID:28492532 12327292 HEPACAM hepatic and glial cell adhesion molecule gene DOID:0080318 megalencephalic leukoencephalopathy with subcortical cysts 2A ISO RGD:1605560 D RGD:7240710 20180130 OMIM 12327292 HEPACAM hepatic and glial cell adhesion molecule gene DOID:0080318 megalencephalic leukoencephalopathy with subcortical cysts 2A ISO RGD:1605560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2A PMID:21419380|PMID:25044933|PMID:25741868|PMID:28492532 12327292 HEPACAM hepatic and glial cell adhesion molecule gene DOID:0110877 holoprosencephaly 11 ISO RGD:1605560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12327292 HEPACAM hepatic and glial cell adhesion molecule gene DOID:0111723 Jacobsen Syndrome ISO RGD:1605560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12327292 HEPACAM hepatic and glial cell adhesion molecule gene DOID:1059 intellectual disability ISO RGD:1605560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12327292 HEPACAM hepatic and glial cell adhesion molecule gene DOID:5419 schizophrenia ISO RGD:1605560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12327292 HEPACAM hepatic and glial cell adhesion molecule gene DOID:630 genetic disease ISO RGD:1605560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29915382 12327292 HEPACAM hepatic and glial cell adhesion molecule gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12327292 HEPACAM hepatic and glial cell adhesion molecule gene DOID:9007661 Dwarfism ISO RGD:1605560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12327325 LOC489992 nodal modulator 1 gene DOID:12849 autistic disorder ISO RGD:1354081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12327325 LOC489992 nodal modulator 1 gene DOID:1826 epilepsy ISO RGD:1354081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12327325 LOC489992 nodal modulator 1 gene DOID:5419 schizophrenia ISO RGD:1354081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12327325 LOC489992 nodal modulator 1 gene DOID:630 genetic disease ISO RGD:1354081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327325 LOC489992 nodal modulator 1 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:1354081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:24581741|PMID:26601923|PMID:28492532|PMID:30554721 12327360 ANAPC16 anaphase promoting complex subunit 16 gene DOID:630 genetic disease ISO RGD:1345646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327370 DESI1 desumoylating isopeptidase 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1607044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12327370 DESI1 desumoylating isopeptidase 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1607044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 12327370 DESI1 desumoylating isopeptidase 1 gene DOID:630 genetic disease ISO RGD:1607044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327383 CELF6 CUGBP Elav-like family member 6 gene DOID:2717 Bloom syndrome ISO RGD:1321359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12327383 CELF6 CUGBP Elav-like family member 6 gene DOID:3320 Tay-Sachs disease ISO RGD:1321359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 12327383 CELF6 CUGBP Elav-like family member 6 gene DOID:630 genetic disease ISO RGD:1321359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327383 CELF6 CUGBP Elav-like family member 6 gene DOID:9256 colorectal cancer ISO RGD:1321359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12327402 LOC100688619 putative methyl-CpG-binding domain protein 3-like 5 gene DOID:0080490 mucolipidosis type IV ISO RGD:5477533 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12327410 PPTC7 protein phosphatase targeting COQ7 gene DOID:630 genetic disease ISO RGD:1604734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327410 PPTC7 protein phosphatase targeting COQ7 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12327420 FBXO4 F-box protein 4 gene DOID:630 genetic disease ISO RGD:1316856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327420 FBXO4 F-box protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12327496 F10 coagulation factor X gene DOID:0060903 thrombosis ISO RGD:1342967 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1279834 12327496 F10 coagulation factor X gene DOID:1247 blood coagulation disease ISO RGD:1342967 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:62897 12327496 F10 coagulation factor X gene DOID:1588 thrombocytopenia ISO RGD:1342967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 12327496 F10 coagulation factor X gene DOID:1612 breast cancer ISO RGD:1342967 D RGD:9068941 20200609 RGD DNA:SNP: :rs3093261 (human) PMID:25407022|REF_RGD_ID:10449101 12327496 F10 coagulation factor X gene DOID:2213 hemorrhagic disease ISO RGD:1342967 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25582404|PMID:25741868|PMID:26879396|PMID:31064749|PMID:7669671 12327496 F10 coagulation factor X gene DOID:2215 factor VII deficiency ISO RGD:1342967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor VII deficiency PMID:10984565|PMID:12181036|PMID:25741868 12327496 F10 coagulation factor X gene DOID:2222 factor X deficiency ISO RGD:1342967 D RGD:7240710 20180130 OMIM 12327496 F10 coagulation factor X gene DOID:2222 factor X deficiency ISO RGD:1342967 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital factor X deficiency | ClinVar Annotator: match by term: F10 DEFICIENCY | ClinVar Annotator: match by term: Factor X deficiency | ClinVar Annotator: match by term: STUART-PROWER FACTOR DEFICIENCY PMID:10468877|PMID:10746568|PMID:10984565|PMID:12028042|PMID:12181036|PMID:16919077|PMID:18403394|PMID:1939653|PMID:1973167|PMID:1985698|PMID:20331754|PMID:21854511|PMID:25582404|PMID:25741868|PMID:26879396|PMID:2790181|PMID:28492532|PMID:29590070|PMID:30507709|PMID:31064749|PMID:31662920|PMID:3408671|PMID:34355501|PMID:7669671|PMID:7860069|PMID:8449937|PMID:8845463|PMID:8910490|PMID:9198147 12327496 F10 coagulation factor X gene DOID:5844 myocardial infarction ISO RGD:1342967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction, decreased susceptibility to PMID:10984565|PMID:12181036|PMID:25741868 12327496 F10 coagulation factor X gene DOID:630 genetic disease ISO RGD:1342967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327496 F10 coagulation factor X gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:1342967 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:22624582|REF_RGD_ID:11041730 12327496 F10 coagulation factor X gene DOID:9002488 Peritoneal Fibrosis ISO RGD:61850 D RGD:9068941 20200609 RGD PMID:19458308|REF_RGD_ID:7394780 12327496 F10 coagulation factor X gene DOID:9008217 Hemorrhage ISO RGD:1342967 D RGD:9068941 20200609 RGD PMID:8073392|REF_RGD_ID:11041766 12327496 F10 coagulation factor X gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:61850 D RGD:9068941 20200609 RGD PMID:16046705|REF_RGD_ID:1601105 12327512 WASF3 WASP family member 3 gene DOID:630 genetic disease ISO RGD:1346468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327512 WASF3 WASP family member 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1346468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12327512 WASF3 WASP family member 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12327530 MAPK6 mitogen-activated protein kinase 6 gene DOID:0080600 COVID-19 ISO RGD:733646 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12327530 MAPK6 mitogen-activated protein kinase 6 gene DOID:2717 Bloom syndrome ISO RGD:733646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12327530 MAPK6 mitogen-activated protein kinase 6 gene DOID:607 paraplegia ISO RGD:733646 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 12327530 MAPK6 mitogen-activated protein kinase 6 gene DOID:630 genetic disease ISO RGD:733646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327530 MAPK6 mitogen-activated protein kinase 6 gene DOID:9002221 Hyperplasia ISO RGD:733646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561872 12327530 MAPK6 mitogen-activated protein kinase 6 gene DOID:9256 colorectal cancer ISO RGD:733646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12327552 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:0050692 Brody myopathy ISO RGD:731640 D RGD:7240710 20180130 OMIM 12327552 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:0050692 Brody myopathy ISO RGD:731640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brody myopathy PMID:10914677|PMID:15083169|PMID:16199547|PMID:17576681|PMID:17882224|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23757202|PMID:23911890|PMID:24033266|PMID:24707176|PMID:25614869|PMID:25741868|PMID:26248958|PMID:26467025|PMID:28492532|PMID:30688039|PMID:30996034|PMID:32040565|PMID:8841193|PMID:9367679|PMID:9536098 12327552 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:731640 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 12327552 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:731640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 12327552 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:5419 schizophrenia ISO RGD:731640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12327552 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:6000 congestive heart failure ISO RGD:731640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19776660 12327552 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:630 genetic disease ISO RGD:731640 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12327552 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:621293 D RGD:9068941 20200609 RGD protein:decreased expression:tail, skeletal muscle PMID:21930674|REF_RGD_ID:13782071 12327552 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9004484 Sepsis ISO RGD:621293 D RGD:9068941 20200609 RGD PMID:28446393|REF_RGD_ID:13782063 12327552 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621293 D RGD:9068941 20200609 RGD PMID:28483572|REF_RGD_ID:12910731 12327552 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:731640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 12327552 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9007346 Cachexia ISO RGD:621293 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma PMID:23200745|REF_RGD_ID:13782066 12327552 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:621293 D RGD:9068941 20200609 RGD PMID:17630344|REF_RGD_ID:13782075 12327552 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9009207 Alcohol Myopathy ISO RGD:621293 D RGD:9068941 20200609 RGD PMID:14506614|REF_RGD_ID:1581765 12327552 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:621293 D RGD:9068941 20200609 RGD PMID:22009485|REF_RGD_ID:6771327 12327582 ARHGAP29 Rho GTPase activating protein 29 gene DOID:0050746 mantle cell lymphoma ISO RGD:1606326 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17488656 12327582 ARHGAP29 Rho GTPase activating protein 29 gene DOID:0080600 COVID-19 ISO RGD:1606326 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12327582 ARHGAP29 Rho GTPase activating protein 29 gene DOID:0110213 isolated cleft palate ISO RGD:1606326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated cleft palate PMID:25741868 12327582 ARHGAP29 Rho GTPase activating protein 29 gene DOID:630 genetic disease ISO RGD:1606326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327582 ARHGAP29 Rho GTPase activating protein 29 gene DOID:9296 cleft lip ISO RGD:1606326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate PMID:25741868 12327608 PRSS35 serine protease 35 gene DOID:0111953 immunodeficiency 23 ISO RGD:1322654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:24931394 12327608 PRSS35 serine protease 35 gene DOID:630 genetic disease ISO RGD:1322654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327608 PRSS35 serine protease 35 gene DOID:9005369 Hepatomegaly ISO RGD:1322654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12327614 OR13G1 olfactory receptor family 13 subfamily G member 1 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1349302 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12327614 OR13G1 olfactory receptor family 13 subfamily G member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1349302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12327614 OR13G1 olfactory receptor family 13 subfamily G member 1 gene DOID:630 genetic disease ISO RGD:1349302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327614 OR13G1 olfactory receptor family 13 subfamily G member 1 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1349302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 12327614 OR13G1 olfactory receptor family 13 subfamily G member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12327617 LONRF1 LON peptidase N-terminal domain and ring finger 1 gene DOID:630 genetic disease ISO RGD:1605309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327636 UBP1 upstream binding protein 1 gene DOID:630 genetic disease ISO RGD:1345367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327659 MYT1 myelin transcription factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1312603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12327659 MYT1 myelin transcription factor 1 gene DOID:1059 intellectual disability ISO RGD:1312603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12327659 MYT1 myelin transcription factor 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1312603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 12327659 MYT1 myelin transcription factor 1 gene DOID:630 genetic disease ISO RGD:1312603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327722 PATZ1 POZ/BTB and AT hook containing zinc finger 1 gene DOID:3070 high grade glioma ISO RGD:1318048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12327722 PATZ1 POZ/BTB and AT hook containing zinc finger 1 gene DOID:630 genetic disease ISO RGD:1318048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327749 METTL14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:0050700 cardiomyopathy ISO RGD:1605646 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34648132 12327749 METTL14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:630 genetic disease ISO RGD:1605646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327749 METTL14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9000197 Edema ISO RGD:1605646 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34648132 12327749 METTL14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1605646 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34648132 12327749 METTL14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9002371 Cardiotoxicity ISO RGD:1605646 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34648132 12327749 METTL14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12327749 METTL14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9005749 Necrosis ISO RGD:1605646 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34648132 12327749 METTL14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9007692 Insulin Resistance ISO RGD:1605646 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 12327749 METTL14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9007964 Arsenic Poisoning ISO RGD:1605646 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 12327749 METTL14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9538 multiple myeloma ISO RGD:1605646 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038059 12327764 DCBLD2 discoidin, CUB and LCCL domain containing 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1346250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12327764 DCBLD2 discoidin, CUB and LCCL domain containing 2 gene DOID:630 genetic disease ISO RGD:1346250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327764 DCBLD2 discoidin, CUB and LCCL domain containing 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1346250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18314483 12327787 KCTD18 potassium channel tetramerization domain containing 18 gene DOID:630 genetic disease ISO RGD:1346294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327787 KCTD18 potassium channel tetramerization domain containing 18 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1346294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12327787 KCTD18 potassium channel tetramerization domain containing 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12327797 USH2A usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26164827|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27157150|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30718709|PMID:30872814|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31736247|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32188678|PMID:32531858|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:33089500|PMID:34130719|PMID:9536098|PMID:9624053 12327797 USH2A usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26164827|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27157150|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30718709|PMID:30872814|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:33089500|PMID:33576794|PMID:34130719|PMID:34426522|PMID:9536098|PMID:9624053 12327797 USH2A usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26164827|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27157150|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30718709|PMID:30872814|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:33089500|PMID:33576794|PMID:34130719|PMID:34416374|PMID:34426522|PMID:9536098|PMID:9624053 12327797 USH2A usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27157150|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30190494|PMID:30192042|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30872814|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31980526|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:32707200|PMID:33089500|PMID:33576794|PMID:34130719|PMID:34416374|PMID:34426522|PMID:34638692|PMID:35457016|PMID:9536098|PMID:9624053 12327797 USH2A usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27157150|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30190494|PMID:30192042|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30872814|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31816670|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31980526|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:32707200|PMID:33089500|PMID:33576794|PMID:33749171|PMID:34130719|PMID:34148116|PMID:34416374|PMID:34426522|PMID:34638692|PMID:34948090|PMID:35457016|PMID:9536098|PMID:9624053 12327797 USH2A usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28798898|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29266521|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29940899|PMID:29953849|PMID:30029497|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30796641|PMID:30826590|PMID:30872814|PMID:30948794|PMID:31047384|PMID:31054281|PMID:31144483|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31816670|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32093671|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:32707200|PMID:32893482|PMID:33089500|PMID:33111345|PMID:33124170|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33781268|PMID:34130719|PMID:34148116|PMID:34203967|PMID:34416374|PMID:34426522|PMID:34638692|PMID:34781295|PMID:34948090|PMID:35266249|PMID:9536098|PMID:9624053 12327797 USH2A usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28798898|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29266521|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29940899|PMID:29953849|PMID:30029497|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30796641|PMID:30826590|PMID:30872814|PMID:30948794|PMID:31047384|PMID:31054281|PMID:31144483|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31816670|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32093671|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:32707200|PMID:32893482|PMID:33089500|PMID:33111345|PMID:33124170|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33781268|PMID:34130719|PMID:34148116|PMID:34203967|PMID:34416374|PMID:34426522|PMID:34638692|PMID:34781295|PMID:34948090|PMID:35266249|PMID:36314366|PMID:9536098|PMID:9624053 12327797 USH2A usherin gene DOID:0050439 Usher syndrome susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:snps, insertion:exon, intron:multiple (human) PMID:18452394|REF_RGD_ID:8547956 12327797 USH2A usherin gene DOID:0050534 congenital stationary night blindness ISO RGD:736503 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053 12327797 USH2A usherin gene DOID:0050563 nonsyndromic deafness ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:10729113|PMID:10909849|PMID:12525556|PMID:15823922|PMID:16199547|PMID:17085681|PMID:17405132|PMID:18641288|PMID:19683999|PMID:19737284|PMID:20497194|PMID:20507924|PMID:21487335|PMID:21569298|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22135276|PMID:24033266|PMID:24875298|PMID:24944099|PMID:25252889|PMID:2525289|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:27460420|PMID:27596865|PMID:28157192|PMID:28492532|PMID:28559085|PMID:28653555|PMID:28894305|PMID:29986705|PMID:30311386|PMID:31231422|PMID:32036094|PMID:32531858|PMID:32747562|PMID:34008892 12327797 USH2A usherin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:736503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:10729113|PMID:10909849|PMID:20507924|PMID:25649381|PMID:28492532|PMID:30303587 12327797 USH2A usherin gene DOID:0050572 cone-rod dystrophy ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:16963483|PMID:17405132|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19683999|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:20513143|PMID:21569298|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24498627|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25262649|PMID:25333064|PMID:25404053|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25991456|PMID:26338283|PMID:26633545|PMID:26872967|PMID:26927203|PMID:27208204|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:28512305|PMID:29293505|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053 12327797 USH2A usherin gene DOID:0050572 cone-rod dystrophy ISO RGD:736503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:16963483|PMID:17405132|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19683999|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:20513143|PMID:21569298|PMID:22135276|PMID:22581970|PMID:23591405|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24498627|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25262649|PMID:25333064|PMID:25404053|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25991456|PMID:26338283|PMID:26633545|PMID:26872967|PMID:26927203|PMID:27208204|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:28512305|PMID:28944237|PMID:29293505|PMID:29953849|PMID:30718709|PMID:31266775|PMID:31836858|PMID:31998945|PMID:32675063|PMID:33691693|PMID:9624053 12327797 USH2A usherin gene DOID:0050646 distal arthrogryposis ISO RGD:736503 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053 12327797 USH2A usherin gene DOID:0050777 Joubert syndrome ISO RGD:736503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16963483|PMID:24033266|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29767709|PMID:30245029|PMID:31429209 12327797 USH2A usherin gene DOID:0060041 autism spectrum disorder ISO RGD:736503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 12327797 USH2A usherin gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12327797 USH2A usherin gene DOID:0110360 retinitis pigmentosa 39 ISO RGD:736503 D RGD:7240710 20180130 OMIM 12327797 USH2A usherin gene DOID:0110360 retinitis pigmentosa 39 ISO RGD:736503 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 39 PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18452394|PMID:18463160|PMID:18641288|PMID:18665192|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19788668|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20613545|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21487335|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22563300|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23755871|PMID:23767834|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24875298|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25211151|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26352687|PMID:26355662|PMID:26377068|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26868535|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27145477|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28653555|PMID:28714225|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:28984810|PMID:29068140|PMID:29074561|PMID:29142287|PMID:29178603|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29899460|PMID:29912909|PMID:29940899|PMID:29953849|PMID:29986705|PMID:30073356|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30358468|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30733538|PMID:30796641|PMID:30872814|PMID:30902645|PMID:30948794|PMID:31047384|PMID:31054281|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31674169|PMID:31699113|PMID:31736247|PMID:31827275|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31998945|PMID:32036094|PMID:32037395|PMID:32093671|PMID:32098976|PMID:32100970|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32646269|PMID:32675063|PMID:32707200|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33105617|PMID:33111992|PMID:33124170|PMID:33576794|PMID:33623043|PMID:33691693|PMID:33926394|PMID:34008892|PMID:34031601|PMID:34148116|PMID:34203967|PMID:34426522|PMID:34781295|PMID:34837038|PMID:34948090|PMID:36314366|PMID:9536098|PMID:9624053 12327797 USH2A usherin gene DOID:0110563 autosomal dominant nonsyndromic deafness 36 ISO RGD:736503 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 36 12327797 USH2A usherin gene DOID:0110826 Usher syndrome type 1 ISO RGD:736503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:20301442|PMID:21569298|PMID:24033266|PMID:25741868|PMID:26667666|PMID:26927203|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30245029 12327797 USH2A usherin gene DOID:0110827 Usher syndrome type 2 ISO RGD:736503 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2 PMID:10729113|PMID:10738000|PMID:10909849|PMID:11311042|PMID:12525556|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15823922|PMID:16199547|PMID:16963483|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18452394|PMID:18463160|PMID:18641288|PMID:19683999|PMID:19881469|PMID:20052763|PMID:20497194|PMID:20507924|PMID:20513143|PMID:21487335|PMID:21569298|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22135276|PMID:23591405|PMID:23924366|PMID:24033266|PMID:24367894|PMID:24498627|PMID:24875298|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25211151|PMID:25262649|PMID:25324289|PMID:25333064|PMID:25356976|PMID:25404053|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26629787|PMID:26927203|PMID:27032803|PMID:27160483|PMID:27318125|PMID:27344577|PMID:27460420|PMID:27596865|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28492532|PMID:28559085|PMID:28653555|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29293505|PMID:29490346|PMID:29625443|PMID:29899460|PMID:29986705|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30718709|PMID:30948794|PMID:31213501|PMID:31231422|PMID:31456290|PMID:31589614|PMID:32036094|PMID:32037395|PMID:32176120|PMID:32531858|PMID:32552793|PMID:32893482|PMID:33576794|PMID:34426522|PMID:35076463|PMID:36314366|PMID:9536098 12327797 USH2A usherin gene DOID:0110827 Usher syndrome type 2 susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:frameshift mutations, missense mutations, nonsense mutation:exon:multiple (human) PMID:15025721|REF_RGD_ID:8547952 12327797 USH2A usherin gene DOID:0110827 Usher syndrome type 2 susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:insertion, deletions, snps:multiple (human) PMID:18665195|REF_RGD_ID:8547965 12327797 USH2A usherin gene DOID:0110827 Usher syndrome type 2 susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:17405132|REF_RGD_ID:8547962 12327797 USH2A usherin gene DOID:0110827 Usher syndrome type 2 susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:snp:intron:c.7595-2144A>G (human) PMID:22009552|REF_RGD_ID:8547985 12327797 USH2A usherin gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:28492532 12327797 USH2A usherin gene DOID:0110838 Usher syndrome type 2A ISO RGD:736503 D RGD:7240710 20180130 OMIM 12327797 USH2A usherin gene DOID:0110838 Usher syndrome type 2A ISO RGD:736503 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18452394|PMID:18463160|PMID:18484607|PMID:18641288|PMID:18665192|PMID:18665195|PMID:18723146|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19788668|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20544672|PMID:20591486|PMID:20596040|PMID:20613545|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21487335|PMID:21569298|PMID:21593743|PMID:21681106|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22135276|PMID:22334370|PMID:22563300|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23029027|PMID:23591405|PMID:23661368|PMID:23661369|PMID:23737954|PMID:23755871|PMID:23767834|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24875298|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25211151|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25373420|PMID:25375654|PMID:25388789|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26352687|PMID:26355662|PMID:26377068|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26747767|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26856745|PMID:26868535|PMID:26872967|PMID:26927203|PMID:26969326|PMID:26992781|PMID:27032803|PMID:27057829|PMID:27145477|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27353947|PMID:27460420|PMID:27583663|PMID:27596865|PMID:27624628|PMID:27884173|PMID:27957503|PMID:28000701|PMID:28005958|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28704108|PMID:28714225|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28912962|PMID:28944237|PMID:28981474|PMID:28984810|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29151245|PMID:29178603|PMID:29196752|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29551606|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29953849|PMID:29986705|PMID:30029497|PMID:30073356|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390381|PMID:30459346|PMID:30543658|PMID:30691450|PMID:30718709|PMID:30733538|PMID:30826590|PMID:30870047|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31054281|PMID:31152317|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31674169|PMID:31699113|PMID:31736247|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31998945|PMID:32036094|PMID:32037395|PMID:32090030|PMID:32093671|PMID:32176120|PMID:32188678|PMID:32467589|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32707200|PMID:32747562|PMID:32893482|PMID:33089500 12327797 USH2A usherin gene DOID:0110838 Usher syndrome type 2A ISO RGD:736503 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:33090715|PMID:33105608|PMID:33111992|PMID:33124170|PMID:33576794|PMID:33623043|PMID:33691693|PMID:34008892|PMID:34031601|PMID:34130719|PMID:34203883|PMID:34416374|PMID:34426522|PMID:34599368|PMID:34638692|PMID:34837038|PMID:35106950|PMID:9536098|PMID:9624053 12327797 USH2A usherin gene DOID:0110838 Usher syndrome type 2A ISO RGD:736503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18452394|PMID:18463160|PMID:18484607|PMID:18641288|PMID:18665192|PMID:18665195|PMID:18723146|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19788668|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20544672|PMID:20591486|PMID:20596040|PMID:20613545|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21487335|PMID:21569298|PMID:21593743|PMID:21681106|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22135276|PMID:22334370|PMID:22563300|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23029027|PMID:23352160|PMID:23591405|PMID:23661368|PMID:23661369|PMID:23737954|PMID:23755871|PMID:23767834|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24875298|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25211151|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25373420|PMID:25375654|PMID:25388789|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26352687|PMID:26355662|PMID:26377068|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26747767|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26856745|PMID:26868535|PMID:26872967|PMID:26927203|PMID:26969326|PMID:26992781|PMID:27032803|PMID:27057829|PMID:27145477|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27353947|PMID:27460420|PMID:27583663|PMID:27596865|PMID:27624628|PMID:27884173|PMID:27957503|PMID:28000701|PMID:28005958|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28704108|PMID:28714225|PMID:28761320|PMID:28798898|PMID:28838317|PMID:28894305|PMID:28912962|PMID:28944237|PMID:28981474|PMID:28984810|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29151245|PMID:29178603|PMID:29196752|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29551606|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29953849|PMID:29986705|PMID:30029497|PMID:30073356|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390381|PMID:30459346|PMID:30543658|PMID:30691450|PMID:30718709|PMID:30733538|PMID:30826590|PMID:30870047|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31031587|PMID:31047384|PMID:31054281|PMID:31152317|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31541171|PMID:31589614|PMID:31674169|PMID:31699113|PMID:31736247|PMID:31827275|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31998945|PMID:32036094|PMID:32037395|PMID:32050993|PMID:32090030|PMID:32093671|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32467589|PMID:32531858 12327797 USH2A usherin gene DOID:0110838 Usher syndrome type 2A ISO RGD:736503 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32707200|PMID:32747562|PMID:32767731|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111345|PMID:33111992|PMID:33124170|PMID:33297549|PMID:33576794|PMID:33623043|PMID:33691693|PMID:33926394|PMID:33946315|PMID:34008892|PMID:34031601|PMID:34130719|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34416374|PMID:34426522|PMID:34448047|PMID:34599368|PMID:34638692|PMID:34837038|PMID:34948090|PMID:35076463|PMID:35106950|PMID:35114279|PMID:35802133|PMID:36314366|PMID:36633841|PMID:9536098|PMID:9624053 12327797 USH2A usherin gene DOID:0110838 Usher syndrome type 2A susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human) PMID:9624053|REF_RGD_ID:8547987 12327797 USH2A usherin gene DOID:0110838 Usher syndrome type 2A susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:10729113|REF_RGD_ID:8547961 12327797 USH2A usherin gene DOID:0111013 cone-rod dystrophy 3 ISO RGD:736503 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 3 PMID:25741868|PMID:26261414|PMID:26306921|PMID:27032803|PMID:28492532|PMID:28981474|PMID:31213501|PMID:32098976 12327797 USH2A usherin gene DOID:10003 sensorineural hearing loss ISO RGD:736503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:10729113|PMID:10909849|PMID:15015129|PMID:16963483|PMID:18273898|PMID:18463160|PMID:18641288|PMID:19683999|PMID:19881469|PMID:20507924|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25262649|PMID:25333064|PMID:25575603|PMID:25649381|PMID:25741868|PMID:26927203|PMID:27460420|PMID:28041643|PMID:28492532|PMID:28944237|PMID:29293505|PMID:30718709 12327797 USH2A usherin gene DOID:10283 prostate cancer ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12327797 USH2A usherin gene DOID:10584 retinitis pigmentosa ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29785639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31699113|PMID:31836858|PMID:31872526|PMID:31960602|PMID:31998945|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32581362|PMID:32646269|PMID:33105608|PMID:33111992|PMID:34031601|PMID:9536098|PMID:9624053 12327797 USH2A usherin gene DOID:10584 retinitis pigmentosa ISO RGD:736503 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30192042|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31836858|PMID:31872526|PMID:31960602|PMID:31980526|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32646269|PMID:33089500|PMID:33105608|PMID:33111992|PMID:33576794|PMID:34031601|PMID:34203883|PMID:34426522|PMID:34638692|PMID:9536098|PMID:9624053 12327797 USH2A usherin gene DOID:10584 retinitis pigmentosa ISO RGD:736503 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30192042|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31816670|PMID:31836858|PMID:31872526|PMID:31960602|PMID:31980526|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32637036|PMID:32646269|PMID:33089500|PMID:33105608|PMID:33111992|PMID:33576794|PMID:33749171|PMID:34031601|PMID:34203883|PMID:34426522|PMID:34638692|PMID:9536098|PMID:9624053 12327797 USH2A usherin gene DOID:10584 retinitis pigmentosa ISO RGD:736503 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30192042|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31816670|PMID:31836858|PMID:31872526|PMID:31960602|PMID:31980526|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32637036|PMID:32646269|PMID:33089500|PMID:33105608|PMID:33111992|PMID:33576794|PMID:33749171|PMID:34031601|PMID:34203883|PMID:34426522|PMID:34638692|PMID:34948090|PMID:9536098|PMID:9624053 12327797 USH2A usherin gene DOID:10584 retinitis pigmentosa ISO RGD:736503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24227914|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29785639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31816670|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111992|PMID:33124170|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33926394|PMID:34031601|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34426522|PMID:34638692|PMID:34948090|PMID:9536098|PMID:9624053 12327797 USH2A usherin gene DOID:10584 retinitis pigmentosa ISO RGD:736503 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24227914|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29785639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31816670|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111992|PMID:33124170|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33926394|PMID:34031601|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34426522|PMID:34638692|PMID:34948090|PMID:36314366|PMID:9536098|PMID:9624053 12327797 USH2A usherin gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:missense mutation, snp:cds, intron:p.G1734R, g.IVS32+1G>A (human) PMID:20309401|REF_RGD_ID:8547963 12327797 USH2A usherin gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C759F (human) PMID:10775529|REF_RGD_ID:8547967 12327797 USH2A usherin gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:snps, deletions, insertion:multiple (human) PMID:20507924|REF_RGD_ID:8547966 12327797 USH2A usherin gene DOID:1432 blindness ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blindness PMID:15015129|PMID:15043528|PMID:15241801|PMID:15325563|PMID:16963483|PMID:18273898|PMID:20513143|PMID:21569298|PMID:24033266|PMID:24498627|PMID:24944099|PMID:25575603|PMID:25741868|PMID:26927203|PMID:27460420|PMID:28492532 12327797 USH2A usherin gene DOID:14791 Leber congenital amaurosis ISO RGD:736503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:10729113|PMID:10909849|PMID:17085681|PMID:18273898|PMID:20507924|PMID:22334370|PMID:24033266|PMID:25078356|PMID:25133751|PMID:25324289|PMID:25404053|PMID:25445212|PMID:25649381|PMID:25741868|PMID:26927203|PMID:27057829|PMID:27957503|PMID:28492532|PMID:28512305|PMID:30718709|PMID:30870047|PMID:33105608|PMID:33691693 12327797 USH2A usherin gene DOID:1540 parathyroid carcinoma ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12327797 USH2A usherin gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736503 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:24033266|PMID:25741868|PMID:28041643|PMID:28492532 12327797 USH2A usherin gene DOID:2030 anxiety disorder ISO RGD:736503 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anxiety PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053 12327797 USH2A usherin gene DOID:4448 macular degeneration ISO RGD:736503 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053 12327797 USH2A usherin gene DOID:630 genetic disease ISO RGD:736503 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:16098008|PMID:17085681|PMID:17296898|PMID:17405132|PMID:18273898|PMID:18641288|PMID:19023448|PMID:1968399|PMID:19683999|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:21151602|PMID:21738395|PMID:22004887|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:23591405|PMID:23661369|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25261458|PMID:25262649|PMID:25326637|PMID:25333064|PMID:25375654|PMID:25404053|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:26355662|PMID:26633545|PMID:26764160|PMID:26872967|PMID:26969326|PMID:27460420|PMID:28041643|PMID:28130426|PMID:28492532|PMID:28653555|PMID:28944237|PMID:29283788|PMID:29588463|PMID:29912909|PMID:29953849|PMID:30718709|PMID:31836858|PMID:32188678|PMID:35076463|PMID:9624053 12327797 USH2A usherin gene DOID:8466 retinal degeneration ISO RGD:736503 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:10729113|PMID:10909849|PMID:11311042|PMID:14970843|PMID:15025721|PMID:15241801|PMID:15325563|PMID:16963483|PMID:18273898|PMID:18641288|PMID:19683999|PMID:20507924|PMID:23940504|PMID:24033266|PMID:24944099|PMID:25649381|PMID:25741868|PMID:26806561|PMID:26969326|PMID:27460420|PMID:28041643|PMID:28492532|PMID:30718709|PMID:33089500|PMID:34948090 12327797 USH2A usherin gene DOID:8501 fundus dystrophy ISO RGD:736503 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18452394|PMID:18463160|PMID:18641288|PMID:18665192|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301515|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20613545|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22563300|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23029027|PMID:23352160|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23755871|PMID:23767834|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25211151|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26856745|PMID:26868535|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27145477|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27460420|PMID:27583663|PMID:27596865|PMID:27624628|PMID:27957503|PMID:28000701|PMID:28005958|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28714225|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:28984810|PMID:29074561|PMID:29142287|PMID:29151245|PMID:29196752|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29767709|PMID:29785639|PMID:29847639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30073356|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30358468|PMID:30390381|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30796641|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31054281|PMID:31152317|PMID:31213501|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31736247|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31998945|PMID:32036094|PMID:32037395|PMID:32050993|PMID:32093671|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32467589|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111345|PMID:33111992|PMID:33576794|PMID:33926394|PMID:33946315|PMID:34008892|PMID:34031601|PMID:34203883|PMID:34426522|PMID:34599368|PMID:34837038|PMID:34948090|PMID:35076463|PMID:35106950|PMID:35266249|PMID:36314366|PMID:9536098|PMID:9624053 12327797 USH2A usherin gene DOID:9002775 Cognitive Dysfunction ISO RGD:736503 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053 12327797 USH2A usherin gene DOID:9003171 Primary Dysautonomias ISO RGD:736503 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dysautonomia PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053 12327797 USH2A usherin gene DOID:9004538 Hearing Loss ISO RGD:736503 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:10729113|PMID:10909849|PMID:14970843|PMID:15015129|PMID:15241801|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17405132|PMID:18273898|PMID:18463160|PMID:18641288|PMID:19683999|PMID:19881469|PMID:20507924|PMID:21569298|PMID:22004887|PMID:22135276|PMID:24033266|PMID:24944099|PMID:25262649|PMID:25333064|PMID:25342620|PMID:25366773|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25999674|PMID:26467025|PMID:26927203|PMID:27460420|PMID:28041643|PMID:28157192|PMID:28492532|PMID:28559085|PMID:28944237|PMID:29151245|PMID:29293505|PMID:30192042|PMID:30245029|PMID:30311386|PMID:30718709|PMID:30872814|PMID:31054281|PMID:32037395|PMID:32531858|PMID:33089500 12327797 USH2A usherin gene DOID:9004538 Hearing Loss ISO RGD:736503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:10729113|PMID:10909849|PMID:14970843|PMID:15015129|PMID:15241801|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17405132|PMID:18273898|PMID:18463160|PMID:18641288|PMID:19683999|PMID:19881469|PMID:20507924|PMID:21569298|PMID:22004887|PMID:22135276|PMID:24033266|PMID:24944099|PMID:25262649|PMID:25333064|PMID:25342620|PMID:25366773|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25999674|PMID:26467025|PMID:26927203|PMID:27460420|PMID:28041643|PMID:28157192|PMID:28492532|PMID:28559085|PMID:28944237|PMID:29151245|PMID:29293505|PMID:30245029|PMID:30311386|PMID:30718709|PMID:30872814|PMID:31054281|PMID:32037395|PMID:32531858 12327797 USH2A usherin gene DOID:9007661 Dwarfism ISO RGD:736503 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Short stature PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053 12327797 USH2A usherin gene DOID:9008520 Chronic Pain ISO RGD:736503 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chronic pain PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053 12327797 USH2A usherin gene DOID:9008681 Deafness ISO RGD:736503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness PMID:10729113|PMID:10909849|PMID:20507924|PMID:25649381|PMID:28492532|PMID:30303587 12327797 USH2A usherin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12327871 DNAJC9 DnaJ heat shock protein family (Hsp40) member C9 gene DOID:630 genetic disease ISO RGD:1312781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327880 IQGAP3 IQ motif containing GTPase activating protein 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1314286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12327880 IQGAP3 IQ motif containing GTPase activating protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1314286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12327880 IQGAP3 IQ motif containing GTPase activating protein 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1314286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12327880 IQGAP3 IQ motif containing GTPase activating protein 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12327880 IQGAP3 IQ motif containing GTPase activating protein 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12327880 IQGAP3 IQ motif containing GTPase activating protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1314286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12327880 IQGAP3 IQ motif containing GTPase activating protein 3 gene DOID:5812 MHC class II deficiency ISO RGD:1314286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12327880 IQGAP3 IQ motif containing GTPase activating protein 3 gene DOID:630 genetic disease ISO RGD:1314286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327880 IQGAP3 IQ motif containing GTPase activating protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1314286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12327880 IQGAP3 IQ motif containing GTPase activating protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12327926 HUS1 HUS1 checkpoint clamp component gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12327926 HUS1 HUS1 checkpoint clamp component gene DOID:630 genetic disease ISO RGD:1318030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327942 ORMDL1 ORMDL sphingolipid biosynthesis regulator 1 gene DOID:0111944 immunodeficiency 31B ISO RGD:1347149 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 12327942 ORMDL1 ORMDL sphingolipid biosynthesis regulator 1 gene DOID:3883 Lynch syndrome ISO RGD:1347149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lynch syndrome 12327942 ORMDL1 ORMDL sphingolipid biosynthesis regulator 1 gene DOID:630 genetic disease ISO RGD:1347149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327942 ORMDL1 ORMDL sphingolipid biosynthesis regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12327951 CDCA8 cell division cycle associated 8 gene DOID:0080600 COVID-19 ISO RGD:1346860 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12327951 CDCA8 cell division cycle associated 8 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1346860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12327951 CDCA8 cell division cycle associated 8 gene DOID:630 genetic disease ISO RGD:1346860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12327951 CDCA8 cell division cycle associated 8 gene DOID:684 hepatocellular carcinoma ISO RGD:1346860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12327951 CDCA8 cell division cycle associated 8 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346860 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 12327966 UNC79 unc-79 homolog, NALCN channel complex subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1322833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12327966 UNC79 unc-79 homolog, NALCN channel complex subunit gene DOID:0080054 achondrogenesis type IA ISO RGD:1322833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12327966 UNC79 unc-79 homolog, NALCN channel complex subunit gene DOID:0081063 DICER1 syndrome ISO RGD:1322833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 12327966 UNC79 unc-79 homolog, NALCN channel complex subunit gene DOID:10283 prostate cancer ISO RGD:1322833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12327966 UNC79 unc-79 homolog, NALCN channel complex subunit gene DOID:630 genetic disease ISO RGD:1322833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328021 DEFB123 defensin, beta 123 gene DOID:630 genetic disease ISO RGD:1351372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328043 SPINK7 serine peptidase inhibitor Kazal type 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606769 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12328043 SPINK7 serine peptidase inhibitor Kazal type 7 gene DOID:630 genetic disease ISO RGD:1606769 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328043 SPINK7 serine peptidase inhibitor Kazal type 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12328043 SPINK7 serine peptidase inhibitor Kazal type 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606769 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12328065 TAX1BP3 Tax1 binding protein 3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1318972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy PMID:25645515|PMID:25741868|PMID:32576985 12328065 TAX1BP3 Tax1 binding protein 3 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1318972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25645515|PMID:25741868|PMID:32576985 12328065 TAX1BP3 Tax1 binding protein 3 gene DOID:1064 cystinosis ISO RGD:1318972 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cystinosin, defect of | ClinVar Annotator: match by term: Cystinosis PMID:24385851 12328065 TAX1BP3 Tax1 binding protein 3 gene DOID:3613 Canavan disease ISO RGD:1318972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 12328065 TAX1BP3 Tax1 binding protein 3 gene DOID:630 genetic disease ISO RGD:1318972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 12328065 TAX1BP3 Tax1 binding protein 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12328065 TAX1BP3 Tax1 binding protein 3 gene DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type ISO RGD:1318972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 12328065 TAX1BP3 Tax1 binding protein 3 gene DOID:9004409 Abderhalden-Kaufmann-Lignac Syndrome ISO RGD:1318972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abderhalden Lignac Kaufmann disease | ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome 12328065 TAX1BP3 Tax1 binding protein 3 gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1318972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 12328073 PYROXD2 pyridine nucleotide-disulphide oxidoreductase domain 2 gene DOID:630 genetic disease ISO RGD:1353326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328093 PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein gene DOID:630 genetic disease ISO RGD:1314035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328093 PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1314035 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12328102 MESP1 mesoderm posterior bHLH transcription factor 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1603631 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12328102 MESP1 mesoderm posterior bHLH transcription factor 1 gene DOID:1682 congenital heart disease ISO RGD:1603631 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital heart disease PMID:24056064|PMID:25741868|PMID:26694203|PMID:28677747 12328102 MESP1 mesoderm posterior bHLH transcription factor 1 gene DOID:2717 Bloom syndrome ISO RGD:1603631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12328102 MESP1 mesoderm posterior bHLH transcription factor 1 gene DOID:5844 myocardial infarction treatment ISO RGD:1603631 D RGD:9068941 20230330 RGD human gene and cell line in a rat model PMID:32550911|REF_RGD_ID:242905196 12328102 MESP1 mesoderm posterior bHLH transcription factor 1 gene DOID:630 genetic disease ISO RGD:1603631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12328102 MESP1 mesoderm posterior bHLH transcription factor 1 gene DOID:8947 diabetic retinopathy ISO RGD:1603631 D RGD:9068941 20230330 RGD associated with type 2 diabetes mellitus;DNA:increased expression:plasma (human) PMID:33221518|REF_RGD_ID:242905212 12328102 MESP1 mesoderm posterior bHLH transcription factor 1 gene DOID:9256 colorectal cancer ISO RGD:1603631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12328146 LOC102151782 keratin-associated protein 6-1-like gene DOID:630 genetic disease ISO RGD:1352489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328201 COL4A3 collagen type IV alpha 3 chain gene DOID:0080046 Stickler syndrome ISO RGD:736518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stickler syndrome PMID:21897443|PMID:24130771|PMID:28492532|PMID:30311386 12328201 COL4A3 collagen type IV alpha 3 chain gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:736518 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:11134255|PMID:12028435|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12328201 COL4A3 collagen type IV alpha 3 chain gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:736518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:25741868 12328201 COL4A3 collagen type IV alpha 3 chain gene DOID:0110032 autosomal dominant Alport syndrome ISO RGD:736518 D RGD:7240710 20180130 OMIM 12328201 COL4A3 collagen type IV alpha 3 chain gene DOID:0110032 autosomal dominant Alport syndrome ISO RGD:736518 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome | ClinVar Annotator: match by term: Renal failure and sensorineural hearing loss PMID:11044206|PMID:11134255|PMID:11961012|PMID:12028435|PMID:1400291|PMID:14582039|PMID:14871398|PMID:15086897|PMID:15880327|PMID:15954103|PMID:16199547|PMID:17216251|PMID:17576681|PMID:18436078|PMID:19525337|PMID:20301386|PMID:20847057|PMID:21157337|PMID:21897443|PMID:22887978|PMID:23325022|PMID:23927549|PMID:23967202|PMID:24033266|PMID:24033287|PMID:24052634|PMID:24130771|PMID:24262798|PMID:24633401|PMID:24854265|PMID:24944784|PMID:25229338|PMID:25307543|PMID:25407002|PMID:25450602|PMID:25514610|PMID:25525159|PMID:25575550|PMID:25596306|PMID:25741868|PMID:26138234|PMID:26277931|PMID:26346198|PMID:26467025|PMID:26633401|PMID:26795916|PMID:26809805|PMID:26920127|PMID:26934356|PMID:27281700|PMID:27391953|PMID:27485810|PMID:27627812|PMID:27796712|PMID:27859054|PMID:27904025|PMID:27932480|PMID:28117080|PMID:28476686|PMID:28492532|PMID:28542346|PMID:28570636|PMID:28600779|PMID:28632965|PMID:28658201|PMID:28704582|PMID:28780565|PMID:28844315|PMID:29089023|PMID:29098738|PMID:29127259|PMID:29204651|PMID:29271581|PMID:29801666|PMID:29854973|PMID:29924831|PMID:29946535|PMID:30295827|PMID:30311386|PMID:30406062|PMID:30476138|PMID:30487145|PMID:30661074|PMID:30773290|PMID:30819905|PMID:30828794|PMID:30881523|PMID:31027891|PMID:31256874|PMID:31306228|PMID:31387071|PMID:31477057|PMID:31625567|PMID:31807928|PMID:31865346|PMID:32723786|PMID:32860008|PMID:33040356|PMID:33229591|PMID:33369211|PMID:33391746|PMID:33532864|PMID:33774048|PMID:33838161|PMID:33854215|PMID:34013111|PMID:34113375|PMID:34120753|PMID:34426522|PMID:34906502|PMID:35177655|PMID:6138234|PMID:7780062|PMID:7987301|PMID:7987396|PMID:8956999|PMID:9195222|PMID:9269635|PMID:9536098 12328201 COL4A3 collagen type IV alpha 3 chain gene DOID:0110033 autosomal recessive Alport syndrome ISO RGD:736518 D RGD:7240710 20180130 OMIM 12328201 COL4A3 collagen type IV alpha 3 chain gene DOID:0110033 autosomal recessive Alport syndrome ISO RGD:736518 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome PMID:11044206|PMID:11134255|PMID:11961012|PMID:12028435|PMID:1400291|PMID:14582039|PMID:14871398|PMID:15880327|PMID:15954103|PMID:16199547|PMID:17216251|PMID:17396119|PMID:17576681|PMID:18385178|PMID:18436078|PMID:19525337|PMID:20847057|PMID:21157337|PMID:21897443|PMID:22887978|PMID:23297803|PMID:23325022|PMID:23927549|PMID:23967202|PMID:24033266|PMID:24033287|PMID:24052634|PMID:24130771|PMID:24262798|PMID:24633401|PMID:24854265|PMID:24944784|PMID:25229338|PMID:25307543|PMID:25381091|PMID:25407002|PMID:25450602|PMID:25514610|PMID:25525159|PMID:25575550|PMID:25596306|PMID:25741868|PMID:25888712|PMID:26138234|PMID:26277931|PMID:26346198|PMID:26467025|PMID:26594346|PMID:26795916|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27485810|PMID:27627812|PMID:27796712|PMID:27859054|PMID:27932480|PMID:28117080|PMID:28492532|PMID:28542346|PMID:28570636|PMID:28632965|PMID:28658201|PMID:28780565|PMID:29098738|PMID:29100090|PMID:29127259|PMID:29204651|PMID:29270492|PMID:29271581|PMID:29801666|PMID:29854973|PMID:29924831|PMID:29946535|PMID:30311386|PMID:30406062|PMID:30476138|PMID:30487145|PMID:30661074|PMID:30773290|PMID:30819905|PMID:30881523|PMID:31027891|PMID:31256874|PMID:31306228|PMID:31387071|PMID:31477057|PMID:31807928|PMID:31865346|PMID:31925849|PMID:32860008|PMID:33040356|PMID:33229591|PMID:33369211|PMID:33391746|PMID:33532864|PMID:33772369|PMID:33774048|PMID:33838161|PMID:33851121|PMID:33854215|PMID:34013111|PMID:34120753|PMID:34400539|PMID:34426522|PMID:35177655|PMID:6138234|PMID:7633417|PMID:7780062|PMID:7987301|PMID:7987396|PMID:8956999|PMID:9195222|PMID:9269635|PMID:9536098|PMID:9647515 12328201 COL4A3 collagen type IV alpha 3 chain gene DOID:0111365 benign familial hematuria ISO RGD:736518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Benign familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria | ClinVar Annotator: match by term: Thin basement membrane nephropathy PMID:11134255|PMID:11961012|PMID:12028435|PMID:14582039|PMID:14871398|PMID:15880327|PMID:17216251|PMID:19525337|PMID:23325022|PMID:24033266|PMID:24052634|PMID:25229338|PMID:25307543|PMID:25575550|PMID:25741868|PMID:26809805|PMID:27627812|PMID:28492532|PMID:29098738|PMID:29854973|PMID:30476138|PMID:30661074|PMID:33532864 12328201 COL4A3 collagen type IV alpha 3 chain gene DOID:10983 Alport syndrome ISO RGD:736518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alport syndrome PMID:11044206|PMID:11134255|PMID:11961012|PMID:12028435|PMID:1400291|PMID:14582039|PMID:14871398|PMID:15880327|PMID:15954103|PMID:16199547|PMID:17216251|PMID:18385178|PMID:18436078|PMID:19525337|PMID:20847057|PMID:21157337|PMID:21862460|PMID:21897443|PMID:22887978|PMID:23927549|PMID:23967202|PMID:24033266|PMID:24052634|PMID:24130771|PMID:24633401|PMID:24854265|PMID:24944784|PMID:25229338|PMID:25307543|PMID:25407002|PMID:25450602|PMID:25514610|PMID:25575550|PMID:25596306|PMID:25741868|PMID:25888712|PMID:26277931|PMID:26346198|PMID:26467025|PMID:26795916|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27391953|PMID:27485810|PMID:27627812|PMID:27859054|PMID:27932480|PMID:28117080|PMID:28492532|PMID:28542346|PMID:28570636|PMID:28632965|PMID:28658201|PMID:28780565|PMID:29127259|PMID:29204651|PMID:29270492|PMID:29271581|PMID:29854973|PMID:29924831|PMID:30245029|PMID:30295827|PMID:30311386|PMID:30406062|PMID:30661074|PMID:30773290|PMID:30819905|PMID:30881523|PMID:30883042|PMID:31027891|PMID:31256874|PMID:31477057|PMID:31865346|PMID:32860008|PMID:33369211|PMID:33532864|PMID:7780062|PMID:7987301|PMID:7987396|PMID:8956999|PMID:9195222|PMID:9269635 12328201 COL4A3 collagen type IV alpha 3 chain gene DOID:10983 Alport syndrome ISO RGD:736518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria PMID:11044206|PMID:11134255|PMID:11961012|PMID:12028435|PMID:1400291|PMID:14582039|PMID:14871398|PMID:15880327|PMID:15954103|PMID:16199547|PMID:17216251|PMID:17576681|PMID:18385178|PMID:18436078|PMID:19525337|PMID:20847057|PMID:21157337|PMID:21862460|PMID:21897443|PMID:22887978|PMID:23325022|PMID:23927549|PMID:23967202|PMID:24033266|PMID:24052634|PMID:24130771|PMID:24633401|PMID:24854265|PMID:24944784|PMID:25229338|PMID:25307543|PMID:25407002|PMID:25450602|PMID:25514610|PMID:25575550|PMID:25596306|PMID:25741868|PMID:25888712|PMID:26277931|PMID:26346198|PMID:26467025|PMID:26795916|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27391953|PMID:27485810|PMID:27627812|PMID:27859054|PMID:27932480|PMID:28117080|PMID:28492532|PMID:28542346|PMID:28570636|PMID:28632965|PMID:28658201|PMID:28780565|PMID:29098738|PMID:29127259|PMID:29204651|PMID:29270492|PMID:29271581|PMID:29801666|PMID:29854973|PMID:29924831|PMID:29946535|PMID:30245029|PMID:30295827|PMID:30311386|PMID:30406062|PMID:30476138|PMID:30487145|PMID:30661074|PMID:30773290|PMID:30819905|PMID:30881523|PMID:30883042|PMID:31027891|PMID:31256874|PMID:31477057|PMID:31865346|PMID:32723786|PMID:32860008|PMID:33040356|PMID:33229591|PMID:33369211|PMID:33532864|PMID:33774048|PMID:34013111|PMID:34426522|PMID:35177655|PMID:7780062|PMID:7987301|PMID:7987396|PMID:8956999|PMID:9195222|PMID:9269635|PMID:9536098 12328201 COL4A3 collagen type IV alpha 3 chain gene DOID:10983 Alport syndrome susceptibility ISO RGD:736518 D RGD:9068941 20200609 RGD DNA:deletion, nonsense mutations PMID:7987301|REF_RGD_ID:1600924 12328201 COL4A3 collagen type IV alpha 3 chain gene DOID:1184 nephrotic syndrome ISO RGD:736518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:28492532|PMID:28844315|PMID:30828794|PMID:34113375 12328201 COL4A3 collagen type IV alpha 3 chain gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:736518 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:14871398|PMID:17216251|PMID:18385178|PMID:24033266|PMID:24854265|PMID:25741868|PMID:26346198|PMID:26467025|PMID:28492532|PMID:29924831|PMID:30245029 12328201 COL4A3 collagen type IV alpha 3 chain gene DOID:2921 glomerulonephritis ISO RGD:71085 D RGD:9068941 20200609 RGD PMID:11158397|REF_RGD_ID:1600928 12328201 COL4A3 collagen type IV alpha 3 chain gene DOID:557 kidney disease ISO RGD:736518 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:12028435|PMID:14582039|PMID:14871398|PMID:15880327|PMID:17216251|PMID:19525337|PMID:21862460|PMID:22887978|PMID:23325022|PMID:24033266|PMID:24052634|PMID:25229338|PMID:25514610|PMID:25741868|PMID:26467025|PMID:26934356|PMID:27627812|PMID:28492532|PMID:29098738|PMID:29854973|PMID:30476138|PMID:30661074 12328201 COL4A3 collagen type IV alpha 3 chain gene DOID:576 proteinuria ISO RGD:736518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:25741868|PMID:28492532 12328201 COL4A3 collagen type IV alpha 3 chain gene DOID:630 genetic disease ISO RGD:736518 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24854265|PMID:25741868|PMID:26809805|PMID:27281700|PMID:28492532|PMID:33040356|PMID:8956999 12328201 COL4A3 collagen type IV alpha 3 chain gene DOID:783 end stage renal disease ISO RGD:736518 D RGD:9068941 20200609 RGD PMID:19357112|REF_RGD_ID:7242047 12328201 COL4A3 collagen type IV alpha 3 chain gene DOID:784 chronic kidney disease ISO RGD:736518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:14871398|PMID:17216251|PMID:24033266|PMID:24854265|PMID:25741868|PMID:26346198|PMID:26467025|PMID:27391953|PMID:28492532|PMID:29924831|PMID:30245029|PMID:32723786 12328201 COL4A3 collagen type IV alpha 3 chain gene DOID:9000363 Hematuria ISO RGD:736518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hematuria | ClinVar Annotator: match by term: Macroscopic hematuria PMID:16199547|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26809805|PMID:27281700|PMID:28492532|PMID:8956999 12328201 COL4A3 collagen type IV alpha 3 chain gene DOID:9003097 Benign Familial Hematuria 2 ISO RGD:736518 D RGD:7240710 20230505 OMIM 12328201 COL4A3 collagen type IV alpha 3 chain gene DOID:9004538 Hearing Loss ISO RGD:736518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hereditary hearing loss and deafness PMID:11044206|PMID:11961012|PMID:12028435|PMID:14582039|PMID:14871398|PMID:17216251|PMID:21157337|PMID:21897443|PMID:23967202|PMID:24033266|PMID:24130771|PMID:25229338|PMID:25307543|PMID:25741868|PMID:26346198|PMID:26467025|PMID:26809805|PMID:27932480|PMID:28492532|PMID:28658201|PMID:29204651|PMID:29271581|PMID:30311386|PMID:30819905|PMID:31027891|PMID:31256874|PMID:31477057|PMID:31865346|PMID:7987301|PMID:9269635 12328201 COL4A3 collagen type IV alpha 3 chain gene DOID:9004538 Hearing Loss ISO RGD:736518 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hereditary hearing loss and deafness PMID:11044206|PMID:11134255|PMID:11961012|PMID:12028435|PMID:14582039|PMID:14871398|PMID:17216251|PMID:21157337|PMID:21897443|PMID:23967202|PMID:24033266|PMID:24130771|PMID:25229338|PMID:25307543|PMID:25741868|PMID:26346198|PMID:26467025|PMID:26809805|PMID:27932480|PMID:28117080|PMID:28492532|PMID:28658201|PMID:29204651|PMID:29271581|PMID:30311386|PMID:30819905|PMID:31027891|PMID:31256874|PMID:31477057|PMID:31865346|PMID:7987301|PMID:9269635 12328201 COL4A3 collagen type IV alpha 3 chain gene DOID:9006352 Benign Familial Hematuria 1 ISO RGD:736518 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HEMATURIA, BENIGN FAMILIAL, 1 PMID:11134255|PMID:12028435|PMID:14582039|PMID:14871398|PMID:15880327|PMID:17216251|PMID:19525337|PMID:23325022|PMID:24033266|PMID:24052634|PMID:25229338|PMID:25307543|PMID:25741868|PMID:26809805|PMID:27627812|PMID:28492532|PMID:29098738|PMID:29854973|PMID:30476138|PMID:30661074 12328201 COL4A3 collagen type IV alpha 3 chain gene DOID:9006608 Lung Carcinoid Tumors severity ISO RGD:736518 D RGD:9068941 20220303 RGD mRNA:decreased expression:lung (human) PMID:25105010|REF_RGD_ID:151660336 12328257 GTF2H1 general transcription factor IIH subunit 1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1317878 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 12328257 GTF2H1 general transcription factor IIH subunit 1 gene DOID:1059 intellectual disability ISO RGD:1317878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12328257 GTF2H1 general transcription factor IIH subunit 1 gene DOID:1062 Fanconi syndrome ISO RGD:1317878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XI PMID:28492532 12328257 GTF2H1 general transcription factor IIH subunit 1 gene DOID:630 genetic disease ISO RGD:1317878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328257 GTF2H1 general transcription factor IIH subunit 1 gene DOID:9003665 Glycogen Storage Disease XI ISO RGD:1317878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lactate dehydrogenase deficiency type A PMID:28492532 12328276 GDPD2 glycerophosphodiester phosphodiesterase domain containing 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12328276 GDPD2 glycerophosphodiester phosphodiesterase domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1346004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31690835 12328276 GDPD2 glycerophosphodiester phosphodiesterase domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1346004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12328276 GDPD2 glycerophosphodiester phosphodiesterase domain containing 2 gene DOID:1826 epilepsy ISO RGD:1346004 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12328276 GDPD2 glycerophosphodiester phosphodiesterase domain containing 2 gene DOID:630 genetic disease ISO RGD:1346004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328318 AFG1L AFG1 like ATPase gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1349497 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 12328318 AFG1L AFG1 like ATPase gene DOID:630 genetic disease ISO RGD:1349497 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328342 ANO5 anoctamin 5 gene DOID:0070198 Miyoshi muscular dystrophy ISO RGD:1342534 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Miyoshi myopathy PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32367299 12328342 ANO5 anoctamin 5 gene DOID:0070198 Miyoshi muscular dystrophy ISO RGD:1342534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Miyoshi myopathy PMID:17576681|PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32367299|PMID:9536098 12328342 ANO5 anoctamin 5 gene DOID:0070201 Miyoshi muscular dystrophy 3 ISO RGD:1342534 D RGD:7240710 20180130 OMIM 12328342 ANO5 anoctamin 5 gene DOID:0070201 Miyoshi muscular dystrophy 3 ISO RGD:1342534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy 3 | ClinVar Annotator: match by term: Miyoshi myopathy 3 PMID:17132147|PMID:18414213|PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23193613|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23663589|PMID:23670307|PMID:23757202|PMID:24022920|PMID:24033266|PMID:24232312|PMID:24803842|PMID:24843231|PMID:25046369|PMID:25135358|PMID:25741868|PMID:25864073|PMID:25891276|PMID:26467025|PMID:26838040|PMID:26886200|PMID:27447704|PMID:27671536|PMID:27708273|PMID:27854218|PMID:27862037|PMID:27911336|PMID:28176803|PMID:28187523|PMID:28492532|PMID:28888072|PMID:30564623|PMID:30919934|PMID:31350120|PMID:31353849|PMID:31395899|PMID:31589614|PMID:32112655|PMID:32528171|PMID:33963534|PMID:34008892|PMID:9673985 12328342 ANO5 anoctamin 5 gene DOID:0080000 muscular disease ISO RGD:1342534 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23757202|PMID:24022920|PMID:24232312|PMID:24843231|PMID:25741868|PMID:25891276|PMID:26467025|PMID:26886200|PMID:27447704|PMID:27708273|PMID:27911336|PMID:28187523|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31395899|PMID:32112655|PMID:9673985 12328342 ANO5 anoctamin 5 gene DOID:0080322 polycystic kidney disease ISO RGD:1342534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kidney, Polycystic PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23757202|PMID:24022920|PMID:24232312|PMID:24843231|PMID:25741868|PMID:25891276|PMID:26467025|PMID:26886200|PMID:27447704|PMID:27708273|PMID:27911336|PMID:28187523|PMID:28492532|PMID:30919934|PMID:9673985 12328342 ANO5 anoctamin 5 gene DOID:0080600 COVID-19 ISO RGD:1342534 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12328342 ANO5 anoctamin 5 gene DOID:0081329 glycogen storage disease I ISO RGD:1342534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency PMID:21186264|PMID:23606453|PMID:25741868|PMID:25891276|PMID:28492532|PMID:30919934|PMID:31353849 12328342 ANO5 anoctamin 5 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1342534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:17576681|PMID:18414213|PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23670307|PMID:23757202|PMID:24022920|PMID:24033266|PMID:24232312|PMID:24843231|PMID:24889862|PMID:25741868|PMID:25864073|PMID:25891276|PMID:26467025|PMID:26886200|PMID:27447704|PMID:27671536|PMID:27708273|PMID:27854218|PMID:27911336|PMID:28187523|PMID:28492532|PMID:30919934|PMID:32367299|PMID:9536098|PMID:9673985 12328342 ANO5 anoctamin 5 gene DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L ISO RGD:1342534 D RGD:7240710 20180130 OMIM 12328342 ANO5 anoctamin 5 gene DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L ISO RGD:1342534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2L | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L PMID:16199547|PMID:17008331|PMID:17132147|PMID:17576681|PMID:18414213|PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23169617|PMID:23193613|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23663589|PMID:23670307|PMID:23757202|PMID:24022920|PMID:24033266|PMID:24232312|PMID:24803842|PMID:24843231|PMID:25046369|PMID:25135358|PMID:25326637|PMID:25741868|PMID:25864073|PMID:25891276|PMID:26467025|PMID:26809617|PMID:26810512|PMID:26838040|PMID:26886200|PMID:26911675|PMID:27447704|PMID:27671536|PMID:27708273|PMID:27854218|PMID:27862037|PMID:27884173|PMID:27911336|PMID:28176803|PMID:28187523|PMID:28492532|PMID:28888072|PMID:30564623|PMID:30919934|PMID:31350120|PMID:31353849|PMID:31395899|PMID:31517061|PMID:31589614|PMID:31791368|PMID:31862442|PMID:31931849|PMID:32112655|PMID:32367299|PMID:32403337|PMID:32419263|PMID:32528171|PMID:32819793|PMID:34008892|PMID:35563815|PMID:9536098|PMID:9673985 12328342 ANO5 anoctamin 5 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1342534 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23757202|PMID:24022920|PMID:24232312|PMID:24843231|PMID:25741868|PMID:25891276|PMID:26467025|PMID:26886200|PMID:27447704|PMID:27708273|PMID:27911336|PMID:28187523|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31395899|PMID:32112655|PMID:9673985 12328342 ANO5 anoctamin 5 gene DOID:0111533 gnathodiaphyseal dysplasia ISO RGD:1342534 D RGD:7240710 20180130 OMIM 12328342 ANO5 anoctamin 5 gene DOID:0111533 gnathodiaphyseal dysplasia ISO RGD:1342534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia | ClinVar Annotator: match by term: Osteogenesis imperfecta with unusual skeletal lesions PMID:15124103|PMID:16199547|PMID:17008331|PMID:17132147|PMID:17576681|PMID:18414213|PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23047743|PMID:23169617|PMID:23193613|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23663589|PMID:23670307|PMID:23757202|PMID:24022920|PMID:24033266|PMID:24232312|PMID:24239059|PMID:24803842|PMID:24843231|PMID:25046369|PMID:25135358|PMID:25326637|PMID:25640679|PMID:25741868|PMID:25864073|PMID:25891276|PMID:26404900|PMID:26436962|PMID:26467025|PMID:26809617|PMID:26810512|PMID:26838040|PMID:26886200|PMID:26911675|PMID:27447704|PMID:27541832|PMID:27671536|PMID:27708273|PMID:27854218|PMID:27862037|PMID:27884173|PMID:27911336|PMID:28176803|PMID:28187523|PMID:28492532|PMID:28888072|PMID:29124309|PMID:29382405|PMID:29792937|PMID:30564623|PMID:30919934|PMID:31127727|PMID:31350120|PMID:31353849|PMID:31395899|PMID:31517061|PMID:31589614|PMID:31791368|PMID:31862442|PMID:31931849|PMID:32112655|PMID:32367299|PMID:32403337|PMID:32419263|PMID:32528171|PMID:32819793|PMID:33963534|PMID:34008892|PMID:3530687|PMID:35563815|PMID:5816667|PMID:9536098|PMID:9673985 12328342 ANO5 anoctamin 5 gene DOID:1059 intellectual disability ISO RGD:1342534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23757202|PMID:24022920|PMID:24232312|PMID:24843231|PMID:25741868|PMID:25891276|PMID:26467025|PMID:26886200|PMID:27447704|PMID:27708273|PMID:27911336|PMID:28187523|PMID:28492532|PMID:30919934|PMID:9673985 12328342 ANO5 anoctamin 5 gene DOID:11720 distal myopathy ISO RGD:1342534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal muscle weakness PMID:22499103|PMID:25741868|PMID:25891276|PMID:26886200|PMID:27447704|PMID:27911336|PMID:28492532|PMID:30564623|PMID:30919934 12328342 ANO5 anoctamin 5 gene DOID:11720 distal myopathy ISO RGD:1342534 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Distal muscle weakness PMID:22499103|PMID:25741868|PMID:26886200|PMID:27447704|PMID:27911336|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31395899|PMID:32112655 12328342 ANO5 anoctamin 5 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1342534 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:23606453|PMID:24022920|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31395899|PMID:32403337|PMID:32528171 12328342 ANO5 anoctamin 5 gene DOID:2749 glycogen storage disease Ia ISO RGD:1342534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hepatorenal glycogenosis PMID:21186264|PMID:23606453|PMID:25741868|PMID:25891276|PMID:28492532|PMID:30919934|PMID:31353849 12328342 ANO5 anoctamin 5 gene DOID:423 myopathy ISO RGD:1342534 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myopathy PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23757202|PMID:24022920|PMID:24232312|PMID:24843231|PMID:25741868|PMID:25891276|PMID:26467025|PMID:26886200|PMID:27447704|PMID:27708273|PMID:27911336|PMID:28187523|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31395899|PMID:32112655|PMID:9673985 12328342 ANO5 anoctamin 5 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:1342534 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:20096397|PMID:22402862|PMID:22980763|PMID:23041008|PMID:23193613|PMID:23606453|PMID:23663589|PMID:23670307|PMID:24033266|PMID:25741868|PMID:25891276|PMID:28176803|PMID:28492532|PMID:31353849 12328342 ANO5 anoctamin 5 gene DOID:630 genetic disease ISO RGD:1342534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23606453|PMID:25741868|PMID:28492532 12328342 ANO5 anoctamin 5 gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:1342534 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fructose-1,6-bisphosphate aldolase B deficiency PMID:20096397|PMID:22402862|PMID:22980763|PMID:23041008|PMID:23193613|PMID:23606453|PMID:23663589|PMID:23670307|PMID:24033266|PMID:25741868|PMID:25891276|PMID:28176803|PMID:28492532|PMID:31353849 12328342 ANO5 anoctamin 5 gene DOID:9884 muscular dystrophy ISO RGD:1342534 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:21186264|PMID:23606453|PMID:25741868|PMID:25891276|PMID:28492532|PMID:30919934 12328377 SPATA2 spermatogenesis associated 2 gene DOID:630 genetic disease ISO RGD:731260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328384 LSM14B LSM family member 14B gene DOID:630 genetic disease ISO RGD:1351489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328418 HCAR1 hydroxycarboxylic acid receptor 1 gene DOID:630 genetic disease ISO RGD:1316071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328421 PLIN4 perilipin 4 gene DOID:13938 amenorrhea ISO RGD:1347657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12328421 PLIN4 perilipin 4 gene DOID:630 genetic disease ISO RGD:1347657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328493 UBE2T ubiquitin conjugating enzyme E2 T gene DOID:0111081 Fanconi anemia complementation group T ISO RGD:1606013 D RGD:7240710 20180130 OMIM 12328493 UBE2T ubiquitin conjugating enzyme E2 T gene DOID:0111081 Fanconi anemia complementation group T ISO RGD:1606013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group T PMID:25741868|PMID:26046368|PMID:26119737|PMID:28492532 12328493 UBE2T ubiquitin conjugating enzyme E2 T gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12328493 UBE2T ubiquitin conjugating enzyme E2 T gene DOID:1540 parathyroid carcinoma ISO RGD:1606013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12328493 UBE2T ubiquitin conjugating enzyme E2 T gene DOID:684 hepatocellular carcinoma ISO RGD:1606013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12328493 UBE2T ubiquitin conjugating enzyme E2 T gene DOID:9002265 Kidney Neoplasms ISO RGD:1606013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 12328493 UBE2T ubiquitin conjugating enzyme E2 T gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606013 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12328493 UBE2T ubiquitin conjugating enzyme E2 T gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12328507 INSM1 INSM transcriptional repressor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:1319934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23582323 12328507 INSM1 INSM transcriptional repressor 1 gene DOID:630 genetic disease ISO RGD:1319934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328512 LOC608051 tubulin alpha-3 chain gene DOID:630 genetic disease ISO RGD:1606186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328512 LOC608051 tubulin alpha-3 chain gene DOID:684 hepatocellular carcinoma ISO RGD:1606186 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 12328512 LOC608051 tubulin alpha-3 chain gene DOID:9003415 Keratoconus 9 ISO RGD:1606186 D RGD:7240710 20190315 OMIM 12328512 LOC608051 tubulin alpha-3 chain gene DOID:9003415 Keratoconus 9 ISO RGD:1606186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 9 PMID:29051577 12328522 WDR6 WD repeat domain 6 gene DOID:630 genetic disease ISO RGD:1316962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328522 WDR6 WD repeat domain 6 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1316962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12328522 WDR6 WD repeat domain 6 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1316962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12328522 WDR6 WD repeat domain 6 gene DOID:9007661 Dwarfism ISO RGD:1316962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12328533 ITPA inosine triphosphatase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1348154 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:26224535 12328533 ITPA inosine triphosphatase gene DOID:0080458 developmental and epileptic encephalopathy 35 ISO RGD:1348154 D RGD:7240710 20180130 OMIM 12328533 ITPA inosine triphosphatase gene DOID:0080458 developmental and epileptic encephalopathy 35 ISO RGD:1348154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 35 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 35 PMID:12384777|PMID:16199547|PMID:20173735|PMID:20547162|PMID:21274861|PMID:22992668|PMID:25741868|PMID:26224535|PMID:26438033|PMID:26441325|PMID:26670100|PMID:28492532|PMID:30856165|PMID:32129147 12328533 ITPA inosine triphosphatase gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1348154 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12328533 ITPA inosine triphosphatase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1348154 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:26224535 12328533 ITPA inosine triphosphatase gene DOID:13714 anodontia ISO RGD:1348154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Partial congenital absence of teeth PMID:25741868|PMID:26224535|PMID:28492532|PMID:30856165 12328533 ITPA inosine triphosphatase gene DOID:1588 thrombocytopenia ISO RGD:1348154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18662289 12328533 ITPA inosine triphosphatase gene DOID:1588 thrombocytopenia treatment ISO RGD:1348154 D RGD:9068941 20200609 RGD associated with Hepatitis C;DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human) PMID:24519039|REF_RGD_ID:10766473 12328533 ITPA inosine triphosphatase gene DOID:1826 epilepsy ISO RGD:1348154 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12328533 ITPA inosine triphosphatase gene DOID:1883 hepatitis C disease_progression ISO RGD:1348154 D RGD:9068941 20200609 RGD DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human) PMID:24519039|REF_RGD_ID:10766473 12328533 ITPA inosine triphosphatase gene DOID:2355 anemia ISO RGD:1348154 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic:DNA:SNP: :rs1127354 (human) PMID:22571903|REF_RGD_ID:14975306 12328533 ITPA inosine triphosphatase gene DOID:2355 anemia treatment ISO RGD:1348154 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic:DNA:SNPs: :rs7270101, rs1127354 (human) PMID:26154744|REF_RGD_ID:11074414 12328533 ITPA inosine triphosphatase gene DOID:2566 corneal dystrophy ISO RGD:1348154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal dystrophy 12328533 ITPA inosine triphosphatase gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1348154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12328533 ITPA inosine triphosphatase gene DOID:583 hemolytic anemia ISO RGD:1348154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20547162 12328533 ITPA inosine triphosphatase gene DOID:583 hemolytic anemia treatment ISO RGD:1348154 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNPs: :rs1127354, rs6051702, rs7270101 (human) PMID:23933495|REF_RGD_ID:10766479 12328533 ITPA inosine triphosphatase gene DOID:583 hemolytic anemia treatment ISO RGD:1348154 D RGD:9068941 20200609 RGD associated with Hepatitis C;DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human) PMID:21274861|REF_RGD_ID:10766472 12328533 ITPA inosine triphosphatase gene DOID:630 genetic disease ISO RGD:1348154 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26224535|PMID:28492532|PMID:30856165 12328533 ITPA inosine triphosphatase gene DOID:655 inherited metabolic disorder ISO RGD:1348154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12384777|PMID:20547162 12328533 ITPA inosine triphosphatase gene DOID:7148 rheumatoid arthritis treatment ISO RGD:1348154 D RGD:9068941 20200609 RGD DNA:SNP: :94C>A(human) PMID:29441893|REF_RGD_ID:14975307 12328533 ITPA inosine triphosphatase gene DOID:9002801 Recurrence ISO RGD:1348154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23029095 12328533 ITPA inosine triphosphatase gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia ISO RGD:1348154 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :rs41320251 (human) PMID:18685564|REF_RGD_ID:10766478 12328533 ITPA inosine triphosphatase gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1348154 D RGD:7240710 20180130 OMIM 12328533 ITPA inosine triphosphatase gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1348154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE DEFICIENCY | ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:11278832|PMID:12384777|PMID:12436200|PMID:16199547|PMID:17576681|PMID:19631656|PMID:20173735|PMID:20547162|PMID:20637204|PMID:21246582|PMID:21274861|PMID:21503919|PMID:22992668|PMID:23707372|PMID:23730840|PMID:25741868|PMID:26071337|PMID:26224535|PMID:26438033|PMID:26441325|PMID:26670100|PMID:26916827|PMID:27833958|PMID:28492532|PMID:30856165|PMID:32129147|PMID:33593863|PMID:9536098 12328533 ITPA inosine triphosphatase gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:1348154 D RGD:9068941 20200609 RGD DNA:SNP:intron PMID:22009189|REF_RGD_ID:10766474 12328533 ITPA inosine triphosphatase gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1348154 D RGD:9068941 20200609 RGD DNA:SNPs:exon:94C>A, 138G>A (human) PMID:22009189|REF_RGD_ID:10766474 12328550 YPEL2 yippee like 2 gene DOID:0050777 Joubert syndrome ISO RGD:1604154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12328560 TMEM61 transmembrane protein 61 gene DOID:630 genetic disease ISO RGD:1604209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328578 LINGO3 leucine rich repeat and Ig domain containing 3 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1354064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12328578 LINGO3 leucine rich repeat and Ig domain containing 3 gene DOID:2661 myoepithelioma ISO RGD:1354064 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12328578 LINGO3 leucine rich repeat and Ig domain containing 3 gene DOID:630 genetic disease ISO RGD:1354064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328578 LINGO3 leucine rich repeat and Ig domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12328583 SERTAD3 SERTA domain containing 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12328583 SERTAD3 SERTA domain containing 3 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1603398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12328583 SERTAD3 SERTA domain containing 3 gene DOID:2340 craniosynostosis ISO RGD:1603398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12328583 SERTAD3 SERTA domain containing 3 gene DOID:630 genetic disease ISO RGD:1603398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328583 SERTAD3 SERTA domain containing 3 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1603398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12328583 SERTAD3 SERTA domain containing 3 gene DOID:9269 maple syrup urine disease ISO RGD:1603398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12328596 L3MBTL3 L3MBTL histone methyl-lysine binding protein 3 gene DOID:0050902 medulloblastoma ISO RGD:1313522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 12328596 L3MBTL3 L3MBTL histone methyl-lysine binding protein 3 gene DOID:630 genetic disease ISO RGD:1313522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328596 L3MBTL3 L3MBTL histone methyl-lysine binding protein 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1313522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:0080011 bone resorption disease ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15845617|PMID:18496637|PMID:23333834 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:0080162 lupus nephritis ISO RGD:730969 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;protein:increased expression:urine PMID:21691937|REF_RGD_ID:7205483 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:0111582 hereditary arterial and articular multiple calcification syndrome ISO RGD:730969 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum PMID:22386825|REF_RGD_ID:7205494 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21659498|REF_RGD_ID:7205513 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:10763 hypertension severity ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22050177|REF_RGD_ID:7205512 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:11476 osteoporosis ISO RGD:11035 D RGD:9068941 20220825 MouseDO OMIM:166710 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:11476 osteoporosis ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17667143 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:1184 nephrotic syndrome ISO RGD:730969 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:22989431|REF_RGD_ID:7205481 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:12466 secondary hyperparathyroidism treatment ISO RGD:730969 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:22156488|REF_RGD_ID:7205487 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:12678 hypercalcemia ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15845617 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:13001 carotid stenosis ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26564003 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:730969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:1712 aortic valve stenosis ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20211333|REF_RGD_ID:7205491 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:206 hereditary multiple exostoses ISO RGD:730969 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:3312 bipolar disorder ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20861651|REF_RGD_ID:7205488 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:3393 coronary artery disease ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15926884|REF_RGD_ID:1620893 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:3407 carotid artery disease disease_progression ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15117849|REF_RGD_ID:1624168 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:341 peripheral vascular disease severity ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16115489|REF_RGD_ID:1624125 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:3526 cerebral infarction disease_progression ISO RGD:730969 D RGD:9068941 20200609 RGD PMID:19895657|REF_RGD_ID:7205492 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:4248 coronary stenosis ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15569000|REF_RGD_ID:1624167 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:4676 uremia ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:5199 ureteral obstruction ISO RGD:11035 D RGD:9068941 20200609 RGD mRNA:increased expression:tibia PMID:22943310|REF_RGD_ID:7205482 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:5408 Paget's disease of bone susceptibility ISO RGD:730969 D RGD:9068941 20200609 RGD DNA:deletion:exon PMID:12189164|REF_RGD_ID:1620794 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:5419 schizophrenia ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20861651|REF_RGD_ID:7205488 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:5844 myocardial infarction ISO RGD:730969 D RGD:9068941 20200609 RGD PMID:15926884|REF_RGD_ID:1620893 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:6000 congestive heart failure ISO RGD:619802 D RGD:9068941 20200609 RGD mRNA, protein:incereased expression:myocardium PMID:15883214|REF_RGD_ID:1624176 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:630 genetic disease ISO RGD:730969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:65 connective tissue disease ISO RGD:730969 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:7148 rheumatoid arthritis ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23333834 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:783 end stage renal disease severity ISO RGD:730969 D RGD:9068941 20200609 RGD PMID:21479768|REF_RGD_ID:7205485 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:820 myocarditis ISO RGD:619802 D RGD:9068941 20200609 RGD associated with Autoimmune Diseases;mRNA:increased expression:heart myocardium PMID:18417124|REF_RGD_ID:2302361 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:823 periapical periodontitis treatment ISO RGD:619802 D RGD:9068941 20210226 RGD Lactobacillus acidophilus PMID:32436602|REF_RGD_ID:42721981 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:8398 osteoarthritis disease_progression ISO RGD:730969 D RGD:9068941 20200609 RGD PMID:15334463|REF_RGD_ID:1625347 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9000965 Neoplasm Metastasis ISO RGD:730969 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:serum PMID:23167338|REF_RGD_ID:7205479 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9001547 Tibial Fractures ISO RGD:619802 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18592139|REF_RGD_ID:2302324 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:730969 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:18719882|REF_RGD_ID:7205493 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:730969 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:20727867|REF_RGD_ID:7205514 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9002211 Hyperalgesia ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16769263 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9002457 Experimental Arthritis ISO RGD:619802 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone PMID:16696922|REF_RGD_ID:1624171 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9002457 Experimental Arthritis ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23333834 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9002457 Experimental Arthritis treatment ISO RGD:619802 D RGD:9068941 20210226 RGD Sinomenine CHEBI:9163 PMID:24066131|REF_RGD_ID:42721982 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9002699 Periapical Diseases ISO RGD:619802 D RGD:9068941 20200609 RGD PMID:21793936|REF_RGD_ID:7205516 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9005372 Inflammation ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23333834 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9005421 Paget Disease of Bone 5, Juvenile-Onset ISO RGD:730969 D RGD:7240710 20180214 OMIM 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9005421 Paget Disease of Bone 5, Juvenile-Onset ISO RGD:730969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease PMID:106682|PMID:12124406|PMID:12189164|PMID:14672344|PMID:19436932|PMID:23837846|PMID:25108083|PMID:25741868|PMID:26762549|PMID:28492532 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9006081 Osteolysis ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12548581 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9007096 Stroke ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17258300|REF_RGD_ID:1620776 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9007692 Insulin Resistance ISO RGD:730969 D RGD:9068941 20200609 RGD associated with obesity;protein:increased expression:serum PMID:15936463|REF_RGD_ID:1620889 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9008778 Coronary Artery Calcification severity ISO RGD:730969 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:22943310|REF_RGD_ID:7205482 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9008887 Microvascular Angina ISO RGD:730969 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:15648548|REF_RGD_ID:1620974 12328625 TNFRSF11B TNF receptor superfamily member 11b gene DOID:9352 type 2 diabetes mellitus severity ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22050177|REF_RGD_ID:7205512 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:0050904 salivary gland carcinoma disease_progression ISO RGD:736739 D RGD:9068941 20210507 RGD PMID:26498950|REF_RGD_ID:126907998 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736739 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:0060500 drug allergy ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17508966 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:0080322 polycystic kidney disease ISO RGD:3439 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17537981|REF_RGD_ID:2300262 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:0080820 occupational asthma ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25721048 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:10591 pre-eclampsia ISO RGD:11184 D RGD:9068941 20220825 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:10652 Alzheimer's disease ISO RGD:11184 D RGD:9068941 20200609 RGD PMID:20157512|REF_RGD_ID:5688156 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:10652 Alzheimer's disease ISO RGD:3439 D RGD:9068941 20200609 RGD PMID:21701788|REF_RGD_ID:5688147 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:10652 Alzheimer's disease ISO RGD:736739 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:10560656|REF_RGD_ID:5688249 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:10808 gastric ulcer ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10594344|PMID:19066340 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:736739 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:macrophage, endothelial cell PMID:12663931|REF_RGD_ID:5688237 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:13413 hepatic encephalopathy ISO RGD:3439 D RGD:9068941 20200609 RGD PMID:21575628|REF_RGD_ID:5688266 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:1591 renovascular hypertension ISO RGD:3439 D RGD:9068941 20200609 RGD PMID:17766473|REF_RGD_ID:2300258 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:1612 breast cancer ISO RGD:736739 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:9521170|REF_RGD_ID:2300213 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:1686 glaucoma ISO RGD:736739 D RGD:9068941 20200609 RGD protein:increased expression:microglia PMID:11391707|REF_RGD_ID:5688244 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:2316 brain ischemia ISO RGD:11184 D RGD:9068941 20200609 RGD PMID:11740205|REF_RGD_ID:5688240 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:2316 brain ischemia ISO RGD:736739 D RGD:9068941 20200609 RGD protein:increased expression:microglia, macrophage PMID:10867793|REF_RGD_ID:5688247 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:2394 ovarian cancer ISO RGD:736739 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary PMID:12615701|REF_RGD_ID:2300211 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:736739 D RGD:9068941 20200609 RGD PMID:18416056|REF_RGD_ID:2300125 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:2893 cervix carcinoma disease_progression ISO RGD:736739 D RGD:9068941 20200609 RGD PMID:16803521|REF_RGD_ID:2300207 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:305 carcinoma ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189197 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:3068 glioblastoma ISO RGD:3439 D RGD:9068941 20200609 RGD protein:increased expression:microglia, macrophage, PMID:10229132|REF_RGD_ID:5688250 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:3068 glioblastoma disease_progression ISO RGD:736739 D RGD:9068941 20200609 RGD PMID:11121536|REF_RGD_ID:5688245 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:3071 gliosarcoma ISO RGD:3439 D RGD:9068941 20200609 RGD protein:increased expression:microglia, macrophage, PMID:10229132|REF_RGD_ID:5688250 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:3312 bipolar disorder ISO RGD:736739 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:prefrontal cortex PMID:20038946|REF_RGD_ID:5688160 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:4450 renal cell carcinoma ISO RGD:3439 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:12708469|REF_RGD_ID:2300212 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:3439 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:Esophagus PMID:22165968|REF_RGD_ID:5687745 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:5119 ovarian cyst ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:6000 congestive heart failure ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:630 genetic disease ISO RGD:736739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15167967 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:783 end stage renal disease ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:8577 ulcerative colitis ISO RGD:3439 D RGD:9068941 20200609 RGD PMID:17429720|REF_RGD_ID:2300267 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3439 D RGD:9068941 20200609 RGD PMID:17184185|REF_RGD_ID:5688221 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3439 D RGD:9068941 20200609 RGD protein:increased expression:microglia, macrophage PMID:11063829|REF_RGD_ID:5688246 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189197 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9000641 Pain ISO RGD:3439 D RGD:9068941 20200609 RGD PMID:17942724|REF_RGD_ID:2300252 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9000641 Pain ISO RGD:3439 D RGD:9068941 20200609 RGD associated with Osteoarthritis, Knee;mRNA, protein:increased expression:spinal cord PMID:18637715|REF_RGD_ID:2300223 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17508966 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:3439 D RGD:9068941 20200609 RGD protein:increased expression:intestine PMID:17699727|REF_RGD_ID:2290567 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9000998 Brain Injuries ISO RGD:11184 D RGD:9068941 20200609 RGD PMID:19719848|REF_RGD_ID:5688162 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9000998 Brain Injuries ISO RGD:3439 D RGD:9068941 20200609 RGD protein:increased expression:microglia, macrophage PMID:11565600|REF_RGD_ID:5688242 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9000998 Brain Injuries ISO RGD:736739 D RGD:9068941 20200609 RGD protein:increased expression:microglial cells, macrophage, endothelial cell PMID:12005397|REF_RGD_ID:5688239 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9001240 Peripheral Nerve Injuries disease_progression ISO RGD:3439 D RGD:9068941 20200609 RGD PMID:14576556|REF_RGD_ID:5688234 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9001472 Nasal Polyps ISO RGD:736739 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis; protein:increased expression:nasal mucosa: PMID:16517580|REF_RGD_ID:5143924 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9001642 Intestinal Polyps ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10753194|PMID:12189188 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9002211 Hyperalgesia ISO RGD:3439 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:17413918|REF_RGD_ID:5688169 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9002211 Hyperalgesia ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17989504 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9002457 Experimental Arthritis ISO RGD:3439 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:synovium PMID:22289897|REF_RGD_ID:5687744 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:11184 D RGD:9068941 20200609 RGD PMID:15867369|REF_RGD_ID:2300208 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:11184 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, cerebellum, spinal cord PMID:21667309|REF_RGD_ID:5688149 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3439 D RGD:9068941 20200609 RGD protein:increased expression:microglia, macrophage, PMID:10229132|REF_RGD_ID:5688250 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:736739 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system epithelium PMID:19364335|REF_RGD_ID:5147461 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10594344 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:736739 D RGD:9068941 20200609 RGD PMID:16385084|REF_RGD_ID:5688223 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3439 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:12086957|REF_RGD_ID:727386 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:3439 D RGD:9068941 20200609 RGD protein:increased expression: PMID:12916703|REF_RGD_ID:5688236 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9007278 Anaphylaxis ISO RGD:3439 D RGD:9068941 20200609 RGD PMID:18480553|REF_RGD_ID:2300247 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9007763 Flushing ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16322797 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9007980 Sleep Deprivation ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16343605 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:736739 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system epithelium PMID:19364335|REF_RGD_ID:5147461 12328669 PTGS1 prostaglandin-endoperoxide synthase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488158 12328700 MYL2 myosin light chain 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:737270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25741868|PMID:28492532|PMID:28611029 12328700 MYL2 myosin light chain 2 gene DOID:0050700 cardiomyopathy ISO RGD:737270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26497160|PMID:26656175|PMID:26664906|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28166811|PMID:28223422|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28771489|PMID:28798025|PMID:29099038|PMID:29398688|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30297972|PMID:30403391|PMID:30430732|PMID:31019283|PMID:31127036|PMID:32453731|PMID:33731536|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616 12328700 MYL2 myosin light chain 2 gene DOID:0050700 cardiomyopathy ISO RGD:737270 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26497160|PMID:26664906|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28166811|PMID:28223422|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28771489|PMID:28798025|PMID:29099038|PMID:29398688|PMID:29447731|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30430732|PMID:30847666|PMID:31019283|PMID:31127036|PMID:31513939|PMID:31737537|PMID:31980526|PMID:32453731|PMID:32665702|PMID:32880476|PMID:33087929|PMID:33548158|PMID:33673806|PMID:33731536|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616 12328700 MYL2 myosin light chain 2 gene DOID:0050700 cardiomyopathy ISO RGD:737270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26497160|PMID:26656175|PMID:26664906|PMID:26906074|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28223422|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28640247|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28855170|PMID:28991257|PMID:29099038|PMID:29253866|PMID:29398688|PMID:29447731|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30291343|PMID:30297972|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30588760|PMID:30706179|PMID:30775854|PMID:30796699|PMID:30847666|PMID:31019283|PMID:31104103|PMID:31127036|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31771554|PMID:31847883|PMID:31980526|PMID:32453731|PMID:32600061|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33190526|PMID:33337957|PMID:33548158|PMID:33558530|PMID:33662488|PMID:33673806|PMID:33731536|PMID:34935411|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616 12328700 MYL2 myosin light chain 2 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:737270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:25741868|PMID:28855170|PMID:32453731|PMID:32600061|PMID:33731536 12328700 MYL2 myosin light chain 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:08673105|PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16837010|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21835320|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26664906|PMID:26906074|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28223422|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28750076|PMID:28771489|PMID:29253866|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30706179|PMID:30775854|PMID:30796699|PMID:31019283|PMID:31104103|PMID:31323898|PMID:31771554|PMID:31847883|PMID:32746448|PMID:33190526|PMID:33337957|PMID:33558530|PMID:34935411|PMID:8673105|PMID:9535554 12328700 MYL2 myosin light chain 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:08673105|PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16837010|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21835320|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26664906|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28166811|PMID:28223422|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28771489|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30403391|PMID:30430732|PMID:31019283|PMID:8673105|PMID:9535554 12328700 MYL2 myosin light chain 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:08673105|PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16837010|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21835320|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26664906|PMID:26906074|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28223422|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28750076|PMID:28771489|PMID:29253866|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30706179|PMID:30775854|PMID:30796699|PMID:31019283|PMID:31104103|PMID:31323898|PMID:31771554|PMID:31847883|PMID:32746448|PMID:33190526|PMID:33337957|PMID:33558530|PMID:34935411|PMID:8673105|PMID:9535554 12328700 MYL2 myosin light chain 2 gene DOID:0110316 hypertrophic cardiomyopathy 10 ISO RGD:737270 D RGD:7240710 20180130 OMIM 12328700 MYL2 myosin light chain 2 gene DOID:0110316 hypertrophic cardiomyopathy 10 ISO RGD:737270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 2 | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 10 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 10 PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:18987303|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21520333|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23549607|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24374283|PMID:24793961|PMID:24842367|PMID:24992035|PMID:25031304|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25770245|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26385864|PMID:26497160|PMID:26656175|PMID:26664906|PMID:26906074|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28223422|PMID:28323875|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28640247|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28855170|PMID:28991257|PMID:29099038|PMID:29247119|PMID:29253866|PMID:29398688|PMID:29447731|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30291343|PMID:30297972|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30588760|PMID:30706179|PMID:30775854|PMID:30796699|PMID:30847666|PMID:31019283|PMID:31104103|PMID:31127036|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31771554|PMID:31847883|PMID:31980526|PMID:31983221|PMID:32453731|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33190526|PMID:33495597|PMID:33500567|PMID:33548158|PMID:33558530|PMID:33673806|PMID:33731536|PMID:33891674|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616 12328700 MYL2 myosin light chain 2 gene DOID:0110316 hypertrophic cardiomyopathy 10 ISO RGD:737270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 10 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 10 PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:18987303|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21520333|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23549607|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24374283|PMID:24793961|PMID:24842367|PMID:24992035|PMID:25031304|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25770245|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26385864|PMID:26497160|PMID:26656175|PMID:26664906|PMID:26906074|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28223422|PMID:28323875|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28640247|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28855170|PMID:28991257|PMID:29099038|PMID:29247119|PMID:29253866|PMID:29398688|PMID:29447731|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30291343|PMID:30297972|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30588760|PMID:30706179|PMID:30775854|PMID:30796699|PMID:30847666|PMID:31019283|PMID:31104103|PMID:31127036|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31771554|PMID:31847883|PMID:31980526|PMID:31983221|PMID:32453731|PMID:32600061|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33190526|PMID:33337957|PMID:33500567|PMID:33548158|PMID:33558530|PMID:33662488|PMID:33673806|PMID:33731536|PMID:33891674|PMID:34935411|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616 12328700 MYL2 myosin light chain 2 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:737270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:18533079|PMID:20173211|PMID:21310275|PMID:22958901|PMID:23299917|PMID:23343568|PMID:23396983|PMID:24033266|PMID:24055113|PMID:24111713|PMID:25524337|PMID:25637381|PMID:25741868|PMID:27483260|PMID:27600940|PMID:28492532|PMID:28750076|PMID:28771489|PMID:29253866|PMID:30403391|PMID:31019283|PMID:31323898|PMID:31771554 12328700 MYL2 myosin light chain 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16751284|PMID:16837010|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21723297|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23549607|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26497160|PMID:26664906|PMID:26906074|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28223422|PMID:28492532|PMID:28750076|PMID:28771489|PMID:28855170|PMID:28991257|PMID:29253866|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30706179|PMID:30775854|PMID:30796699|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31104103|PMID:31323898|PMID:31513939|PMID:31771554|PMID:32453731|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33190526|PMID:33548158|PMID:33673806|PMID:8673105|PMID:9535554|PMID:9724616 12328700 MYL2 myosin light chain 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:737270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18533079|PMID:20173211|PMID:21310275|PMID:22958901|PMID:23299917|PMID:23343568|PMID:23396983|PMID:24033266|PMID:24055113|PMID:24111713|PMID:25524337|PMID:25637381|PMID:25741868|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28492532|PMID:28750076|PMID:28771489|PMID:28855170|PMID:29253866|PMID:30403391|PMID:31019283|PMID:31323898|PMID:31771554 12328700 MYL2 myosin light chain 2 gene DOID:1682 congenital heart disease ISO RGD:737270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital heart disease PMID:25741868|PMID:28492532 12328700 MYL2 myosin light chain 2 gene DOID:422 congenital structural myopathy ISO RGD:737270 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:25741868|PMID:28855170|PMID:32453731|PMID:32600061|PMID:33731536 12328700 MYL2 myosin light chain 2 gene DOID:6000 congestive heart failure ISO RGD:737270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:12404107|PMID:24033266|PMID:25741868|PMID:28492532 12328700 MYL2 myosin light chain 2 gene DOID:630 genetic disease ISO RGD:737270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11102452|PMID:12668451|PMID:14594949|PMID:25324513|PMID:25741868|PMID:28492532|PMID:9535554 12328700 MYL2 myosin light chain 2 gene DOID:9000543 Death ISO RGD:737270 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Death in early adulthood PMID:08673105|PMID:10948063|PMID:11102452|PMID:12404107|PMID:12668451|PMID:14594949|PMID:16076902|PMID:16751284|PMID:17606808|PMID:21310275|PMID:21896538|PMID:24033266|PMID:25324513|PMID:25351510|PMID:25741868|PMID:26497160|PMID:27435932|PMID:27532257|PMID:28138913|PMID:28166811|PMID:28492532|PMID:28771489|PMID:30706179|PMID:30847666|PMID:31513939|PMID:32665702|PMID:32880476|PMID:33087929|PMID:33548158|PMID:33673806|PMID:8673105|PMID:9724616 12328700 MYL2 myosin light chain 2 gene DOID:9003320 Myofibrillar Myopathy 12 ISO RGD:737270 D RGD:7240710 20210818 OMIM 12328700 MYL2 myosin light chain 2 gene DOID:9003320 Myofibrillar Myopathy 12 ISO RGD:737270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY | ClinVar Annotator: match by term: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:14594949|PMID:15483641|PMID:16837010|PMID:17576681|PMID:18929571|PMID:19150977|PMID:20855589|PMID:21415409|PMID:22260945|PMID:22958901|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24842367|PMID:25324513|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26284228|PMID:27378946|PMID:27435932|PMID:27476098|PMID:27532257|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28640247|PMID:28855170|PMID:29447731|PMID:30291343|PMID:30847666|PMID:31847883|PMID:31980526|PMID:32453731|PMID:32600061|PMID:32665702|PMID:33337957|PMID:33558530|PMID:33662488|PMID:33731536|PMID:34935411|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982 12328700 MYL2 myosin light chain 2 gene DOID:9006030 Infant Death ISO RGD:737270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Death in infancy PMID:11102452|PMID:11748309|PMID:12668451|PMID:14594949|PMID:15483641|PMID:16837010|PMID:18929571|PMID:19150977|PMID:20855589|PMID:21415409|PMID:22958901|PMID:23299917|PMID:23343568|PMID:24033266|PMID:24111713|PMID:24842367|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26284228|PMID:27435932|PMID:28467684|PMID:28492532|PMID:28518168|PMID:33337957|PMID:33558530|PMID:34935411|PMID:8673105 12328700 MYL2 myosin light chain 2 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:737270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:11102452|PMID:11748309|PMID:12668451|PMID:14594949|PMID:15483641|PMID:16837010|PMID:18929571|PMID:19150977|PMID:20855589|PMID:21415409|PMID:22958901|PMID:23299917|PMID:23343568|PMID:24033266|PMID:24111713|PMID:24842367|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26284228|PMID:27435932|PMID:28467684|PMID:28492532|PMID:28518168|PMID:33337957|PMID:33558530|PMID:34935411|PMID:8673105 12328711 RPS26 ribosomal protein S26 gene DOID:0111888 Diamond-Blackfan anemia 10 ISO RGD:1344988 D RGD:7240710 20180130 OMIM 12328711 RPS26 ribosomal protein S26 gene DOID:0111888 Diamond-Blackfan anemia 10 ISO RGD:1344988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 PMID:16199547|PMID:17483715|PMID:17576681|PMID:19816270|PMID:20116044|PMID:21414820|PMID:22045982|PMID:22381658|PMID:22689679|PMID:23718193|PMID:23812780|PMID:24675553|PMID:24942156|PMID:25741868|PMID:26136524|PMID:28102861|PMID:28492532|PMID:29114930|PMID:9536098 12328711 RPS26 ribosomal protein S26 gene DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ISO RGD:1344988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis PMID:17483715|PMID:19816270|PMID:20116044|PMID:23718193|PMID:24675553|PMID:24942156|PMID:28492532 12328711 RPS26 ribosomal protein S26 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1344988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:19816270|PMID:20116044|PMID:22381658|PMID:23718193|PMID:24675553|PMID:24942156|PMID:25741868|PMID:26136524|PMID:26604301|PMID:27329125|PMID:28102861|PMID:28492532 12328711 RPS26 ribosomal protein S26 gene DOID:2355 anemia ISO RGD:1344988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:32581362 12328711 RPS26 ribosomal protein S26 gene DOID:4961 bone marrow disease ISO RGD:1344988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone marrow hypocellularity PMID:25741868 12328711 RPS26 ribosomal protein S26 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12328711 RPS26 ribosomal protein S26 gene DOID:9000918 Disease Progression ISO RGD:1344988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12328719 MTO1 mitochondrial tRNA translation optimization 1 gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1553062 D RGD:9068941 20220825 MouseDO OMIM:300816 | OMIM:609060 | OMIM:610498 | OMIM:610505 | OMIM:610678 | OMIM:611719 | OMIM:613559 | OMIM:614096 | OMIM:614582 | OMIM:614702 | OMIM:614922 | OMIM:614924 | OMIM:614932 | OMIM:614946 | OMIM:614947 | OMIM:615395 | OMIM:615440 | OMIM:615578 | OMIM:615595 | OMIM:615917 | OMIM:615918 | OMIM:616045 | OMIM:616198 | OMIM:616239 12328719 MTO1 mitochondrial tRNA translation optimization 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1318828 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder PMID:22608499|PMID:23929671|PMID:24033266|PMID:25058219|PMID:25741868|PMID:25741892|PMID:28492532 12328719 MTO1 mitochondrial tRNA translation optimization 1 gene DOID:0111480 combined oxidative phosphorylation deficiency 10 ISO RGD:1318828 D RGD:7240710 20180130 OMIM 12328719 MTO1 mitochondrial tRNA translation optimization 1 gene DOID:0111480 combined oxidative phosphorylation deficiency 10 ISO RGD:1318828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency PMID:16199547|PMID:17576681|PMID:22608499|PMID:23929671|PMID:24033266|PMID:25058219|PMID:25552653|PMID:25640679|PMID:25741868|PMID:25741892|PMID:26061759|PMID:26539891|PMID:27151179|PMID:27256614|PMID:28492532|PMID:29331171|PMID:29440775|PMID:30369941|PMID:30831263|PMID:31451716|PMID:31842146|PMID:33258288|PMID:33586140|PMID:9536098 12328719 MTO1 mitochondrial tRNA translation optimization 1 gene DOID:3659 sialuria ISO RGD:1318828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 12328719 MTO1 mitochondrial tRNA translation optimization 1 gene DOID:630 genetic disease ISO RGD:1318828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22608499|PMID:25058219|PMID:25741868|PMID:28492532|PMID:31842146 12328719 MTO1 mitochondrial tRNA translation optimization 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1318828 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22608499|PMID:23929671|PMID:24033266|PMID:25058219|PMID:25741868|PMID:25741892|PMID:28492532 12328735 AGO1 argonaute RISC component 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12328735 AGO1 argonaute RISC component 1 gene DOID:1059 intellectual disability ISO RGD:1312163 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25356899|PMID:25741868|PMID:27620904|PMID:28492532|PMID:30213762|PMID:34930816 12328735 AGO1 argonaute RISC component 1 gene DOID:1790 malignant mesothelioma ISO RGD:1312163 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12328735 AGO1 argonaute RISC component 1 gene DOID:630 genetic disease ISO RGD:1312163 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328735 AGO1 argonaute RISC component 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312163 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23020937|PMID:25741868|PMID:30213762|PMID:34930816 12328735 AGO1 argonaute RISC component 1 gene DOID:9006049 NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES ISO RGD:1312163 D RGD:7240710 20230505 OMIM 12328735 AGO1 argonaute RISC component 1 gene DOID:9006049 NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES ISO RGD:1312163 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures PMID:23020937|PMID:25356899|PMID:25741868|PMID:27620904|PMID:28492532|PMID:30213762|PMID:34930816 12328768 CALR calreticulin gene DOID:0050731 vitamin B12 deficiency ISO RGD:620288 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:25982389|REF_RGD_ID:11352764 12328768 CALR calreticulin gene DOID:0050866 oral squamous cell carcinoma ISO RGD:731575 D RGD:9068941 20211119 RGD protein:increased expression:mouth (human) PMID:23375593|REF_RGD_ID:150521688 12328768 CALR calreticulin gene DOID:0050866 oral squamous cell carcinoma exacerbates ISO RGD:731575 D RGD:9068941 20211029 RGD protein:increased expression:oral epithelium (human) PMID:28599487|REF_RGD_ID:150520158 12328768 CALR calreticulin gene DOID:0050990 episodic ataxia type 2 ISO RGD:731575 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12328768 CALR calreticulin gene DOID:0070004 myeloid neoplasm ISO RGD:731575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29047144 12328768 CALR calreticulin gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:731575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12328768 CALR calreticulin gene DOID:0111254 glutaric acidemia I ISO RGD:731575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12328768 CALR calreticulin gene DOID:10534 stomach cancer disease_progression ISO RGD:731575 D RGD:9068941 20211119 RGD protein:increased expression:stomach (human) PMID:31725767|REF_RGD_ID:150521680 12328768 CALR calreticulin gene DOID:10534 stomach cancer exacerbates ISO RGD:731575 D RGD:9068941 20211119 RGD protein:increased expression:stomach (human) PMID:19050968|REF_RGD_ID:150521686 12328768 CALR calreticulin gene DOID:1324 lung cancer ISO RGD:731575 D RGD:9068941 20211119 RGD protein:increased expression:blood serum (human) PMID:22083347|PMID:24111870|REF_RGD_ID:150521678|REF_RGD_ID:150521704 12328768 CALR calreticulin gene DOID:1324 lung cancer treatment ISO RGD:1550061 D RGD:9068941 20211119 RGD PMID:32161598|REF_RGD_ID:150521699 12328768 CALR calreticulin gene DOID:1324 lung cancer treatment ISO RGD:731575 D RGD:9068941 20211029 RGD PMID:26314964|REF_RGD_ID:150520159 12328768 CALR calreticulin gene DOID:1324 lung cancer treatment ISO RGD:731575 D RGD:9068941 20211119 RGD human cells and recombinant gene in a mouse model PMID:12215887|REF_RGD_ID:150521700 12328768 CALR calreticulin gene DOID:1520 colon carcinoma treatment ISO RGD:731575 D RGD:9068941 20211119 RGD human cells and recombinant protein in a mouse model PMID:9858521|REF_RGD_ID:150521687 12328768 CALR calreticulin gene DOID:169 neuroendocrine tumor exacerbates ISO RGD:731575 D RGD:9068941 20211119 RGD human cells and recombinant protein in a mouse model PMID:16293970|REF_RGD_ID:150521697 12328768 CALR calreticulin gene DOID:219 colon cancer ameliorates ISO RGD:1550061 D RGD:9068941 20211119 RGD PMID:17187072|REF_RGD_ID:150521684 12328768 CALR calreticulin gene DOID:219 colon cancer ameliorates ISO RGD:731575 D RGD:9068941 20211119 RGD protein:increased expression:colon (human) PMID:20480531|REF_RGD_ID:150521693 12328768 CALR calreticulin gene DOID:219 colon cancer treatment ISO RGD:1550061 D RGD:9068941 20211119 RGD PMID:19881547|PMID:29573475|REF_RGD_ID:150521692|REF_RGD_ID:150521694 12328768 CALR calreticulin gene DOID:219 colon cancer treatment ISO RGD:731575 D RGD:9068941 20211119 RGD human cell line and recombinant gene in a mouse model PMID:19256344|REF_RGD_ID:150521701 12328768 CALR calreticulin gene DOID:2224 essential thrombocythemia ISO RGD:731575 D RGD:7240710 20180130 OMIM 12328768 CALR calreticulin gene DOID:2224 essential thrombocythemia ISO RGD:731575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 PMID:24325356|PMID:24325359|PMID:25741868 12328768 CALR calreticulin gene DOID:2224 essential thrombocythemia severity ISO RGD:731575 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:24496303|REF_RGD_ID:11352751 12328768 CALR calreticulin gene DOID:2228 thrombocytosis ISO RGD:731575 D RGD:9068941 20200609 RGD human gene in a mouse model;DNA:deletion, insertion:cds:c.1179_1230del, c.1234_1235insTTGTC (human) PMID:26608331|REF_RGD_ID:11352752 12328768 CALR calreticulin gene DOID:2228 thrombocytosis ISO RGD:731575 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism 12328768 CALR calreticulin gene DOID:234 colon adenocarcinoma ISO UniProtKB:Q76PP9 D RGD:9068941 20211119 RGD PMID:18812201|REF_RGD_ID:150521683 12328768 CALR calreticulin gene DOID:2394 ovarian cancer treatment ISO RGD:731575 D RGD:9068941 20211029 RGD PMID:26314964|REF_RGD_ID:150520159 12328768 CALR calreticulin gene DOID:3121 gallbladder cancer exacerbates ISO RGD:731575 D RGD:9068941 20211119 RGD mRNA, protein:increased expression:gall bladder (human) PMID:33591948|REF_RGD_ID:150521682 12328768 CALR calreticulin gene DOID:3413 alpha-mannosidosis ISO RGD:731575 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12328768 CALR calreticulin gene DOID:3498 pancreatic ductal adenocarcinoma ameliorates ISO RGD:731575 D RGD:9068941 20211029 RGD human cells in mouse model PMID:33028359|REF_RGD_ID:150520160 12328768 CALR calreticulin gene DOID:3498 pancreatic ductal adenocarcinoma ameliorates ISO RGD:731575 D RGD:9068941 20211119 RGD human cells in a mouse model PMID:29072694|REF_RGD_ID:150521706 12328768 CALR calreticulin gene DOID:3587 pancreatic ductal carcinoma ISO RGD:731575 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic duct PMID:15289361|REF_RGD_ID:2326165 12328768 CALR calreticulin gene DOID:3717 gastric adenocarcinoma ameliorates ISO RGD:1550061 D RGD:9068941 20211119 RGD human cell line and construct in a mouse model PMID:25619450|REF_RGD_ID:150521705 12328768 CALR calreticulin gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:731575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12328768 CALR calreticulin gene DOID:3748 esophagus squamous cell carcinoma ameliorates ISO RGD:731575 D RGD:9068941 20211119 RGD human cells in a mouse model PMID:19684620|PMID:23814025|REF_RGD_ID:150521679|REF_RGD_ID:150521703 12328768 CALR calreticulin gene DOID:3770 pulmonary fibrosis ISO RGD:1550061 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:18563736|REF_RGD_ID:2326172 12328768 CALR calreticulin gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:731575 D RGD:9068941 20211119 RGD mRNA, protein:increased expression:lung (human) PMID:29228584|REF_RGD_ID:150521696 12328768 CALR calreticulin gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:731575 D RGD:9068941 20211119 RGD protein:increased expression:lung (human) PMID:26842877|REF_RGD_ID:150521685 12328768 CALR calreticulin gene DOID:3910 lung adenocarcinoma treatment ISO RGD:731575 D RGD:9068941 20211119 RGD human cells and recombinant gene in a mouse model PMID:18245558|REF_RGD_ID:150521698 12328768 CALR calreticulin gene DOID:4971 myelofibrosis ISO RGD:731575 D RGD:7240710 20180130 OMIM 12328768 CALR calreticulin gene DOID:4971 myelofibrosis ISO RGD:731575 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis PMID:24325356|PMID:24325359|PMID:25741868 12328768 CALR calreticulin gene DOID:6000 congestive heart failure ISO RGD:1550061 D RGD:9068941 20220825 MouseDO 12328768 CALR calreticulin gene DOID:630 genetic disease ISO RGD:731575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328768 CALR calreticulin gene DOID:684 hepatocellular carcinoma ISO RGD:731575 D RGD:9068941 20211119 RGD PMID:12096119|REF_RGD_ID:150521690 12328768 CALR calreticulin gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:731575 D RGD:9068941 20211119 RGD protein:increased expression:liver (human) PMID:27055635|REF_RGD_ID:150521681 12328768 CALR calreticulin gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731575 D RGD:9068941 20211119 RGD human cells and recombinant gene in a mouse model PMID:24997628|REF_RGD_ID:150521691 12328768 CALR calreticulin gene DOID:8584 Burkitt lymphoma treatment ISO RGD:731575 D RGD:9068941 20211119 RGD human cell line and recombinant protein in a mouse model PMID:10961892|REF_RGD_ID:150521702 12328768 CALR calreticulin gene DOID:8584 Burkitt lymphoma treatment ISO RGD:731575 D RGD:9068941 20211119 RGD human cells and recombinant protein in a mouse model PMID:9858521|REF_RGD_ID:150521687 12328768 CALR calreticulin gene DOID:8955 sideroblastic anemia ISO RGD:731575 D RGD:9068941 20200609 RGD DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human) PMID:24325359|REF_RGD_ID:11352763 12328768 CALR calreticulin gene DOID:9000784 Fibrosis disease_progression ISO RGD:620288 D RGD:9068941 20200609 RGD associated with kidney disease; mRNA, protein:increased expression:kidney cortex PMID:18563736|REF_RGD_ID:2326172 12328768 CALR calreticulin gene DOID:9002304 Prostatic Neoplasms ISO RGD:731575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 12328768 CALR calreticulin gene DOID:9002575 Myeloperoxidase Deficiency ISO RGD:731575 D RGD:9068941 20200609 RGD associated with Myelofibrosis;DNA:missense mutations:cds:multiple (human) PMID:27013444|REF_RGD_ID:11352758 12328768 CALR calreticulin gene DOID:9004118 Experimental Melanoma ISO RGD:731575 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16388313 12328768 CALR calreticulin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 12328768 CALR calreticulin gene DOID:9007102 Myocardial Ischemia ISO RGD:731575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12328768 CALR calreticulin gene DOID:9008443 Colorectal Neoplasms ISO RGD:731575 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17187072 12328768 CALR calreticulin gene DOID:9119 acute myeloid leukemia ISO RGD:731575 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood (human) PMID:26640226|REF_RGD_ID:11076986 12328768 CALR calreticulin gene DOID:9256 colorectal cancer ISO RGD:731575 D RGD:9068941 20211119 RGD protein:decreased expression:colorectum (human) PMID:26913609|REF_RGD_ID:150521695 12328768 CALR calreticulin gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:731575 D RGD:9068941 20211119 RGD protein:increased expression:epithelium of nasopharynx (human) PMID:31956372|REF_RGD_ID:150521689 12328768 CALR calreticulin gene DOID:9261 nasopharynx carcinoma exacerbates ISO RGD:731575 D RGD:9068941 20211029 RGD protein:increased expression:epithelium of nasopharynx (human) PMID:31632490|REF_RGD_ID:150520157 12328810 CNTN1 contactin 1 gene DOID:0080101 Compton-North congenital myopathy ISO RGD:732231 D RGD:7240710 20180130 OMIM 12328810 CNTN1 contactin 1 gene DOID:0080101 Compton-North congenital myopathy ISO RGD:732231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Compton-North congenital myopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:19026398|PMID:22242131|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 12328810 CNTN1 contactin 1 gene DOID:630 genetic disease ISO RGD:732231 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12328810 CNTN1 contactin 1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:621300 D RGD:9068941 20200609 RGD PMID:22044737|REF_RGD_ID:5685697 12328810 CNTN1 contactin 1 gene DOID:9004866 Ataxia ISO RGD:732232 D RGD:9068941 20200609 RGD PMID:10595523|REF_RGD_ID:734798 12328848 CGGBP1 CGG triplet repeat binding protein 1 gene DOID:630 genetic disease ISO RGD:1317722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328863 RPL30 ribosomal protein L30 gene DOID:630 genetic disease ISO RGD:731558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328863 RPL30 ribosomal protein L30 gene DOID:8566 herpes simplex ISO RGD:731558 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:ribosome PMID:7588575|REF_RGD_ID:11039399 12328873 THUMPD2 THUMP domain containing 2 gene DOID:3883 Lynch syndrome ISO RGD:1315745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12328873 THUMPD2 THUMP domain containing 2 gene DOID:630 genetic disease ISO RGD:1315745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328873 THUMPD2 THUMP domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12328887 DUS4L dihydrouridine synthase 4 like gene DOID:0070261 congenital disorder of glycosylation type IIi ISO RGD:1602492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COG5-CDG PMID:23228021|PMID:25741868|PMID:28492532 12328887 DUS4L dihydrouridine synthase 4 like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12328887 DUS4L dihydrouridine synthase 4 like gene DOID:5212 congenital disorder of glycosylation ISO RGD:1602492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 12328887 DUS4L dihydrouridine synthase 4 like gene DOID:630 genetic disease ISO RGD:1602492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328901 CDC42EP2 CDC42 effector protein 2 gene DOID:1059 intellectual disability ISO RGD:1321045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12328901 CDC42EP2 CDC42 effector protein 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1321045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12328901 CDC42EP2 CDC42 effector protein 2 gene DOID:2746 glycogen storage disease V ISO RGD:1321045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12328901 CDC42EP2 CDC42 effector protein 2 gene DOID:3070 high grade glioma ISO RGD:1321045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12328901 CDC42EP2 CDC42 effector protein 2 gene DOID:630 genetic disease ISO RGD:1321045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328901 CDC42EP2 CDC42 effector protein 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1321045 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12328901 CDC42EP2 CDC42 effector protein 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1321045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12328907 SLC22A12 solute carrier family 22 member 12 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12328907 SLC22A12 solute carrier family 22 member 12 gene DOID:1059 intellectual disability ISO RGD:1323543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12328907 SLC22A12 solute carrier family 22 member 12 gene DOID:3021 acute kidney failure ISO RGD:1323543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14655203 12328907 SLC22A12 solute carrier family 22 member 12 gene DOID:3070 high grade glioma ISO RGD:1323543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12328907 SLC22A12 solute carrier family 22 member 12 gene DOID:630 genetic disease ISO RGD:1323543 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21148271|PMID:25741868|PMID:28492532|PMID:30920107 12328907 SLC22A12 solute carrier family 22 member 12 gene DOID:9005835 Congenital Abnormalities ISO RGD:1323543 D RGD:9068941 20200609 RGD Mutatons cause hypouricemia, a deficiency of uric acid in the blood. PMID:12024214|PMID:15634722|REF_RGD_ID:1599244|REF_RGD_ID:1599245 12328907 SLC22A12 solute carrier family 22 member 12 gene DOID:9007605 Renal Hypouricemia ISO RGD:1323543 D RGD:7240710 20180130 OMIM 12328907 SLC22A12 solute carrier family 22 member 12 gene DOID:9007605 Renal Hypouricemia ISO RGD:1323543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dalmatian hypouricemia PMID:12024214|PMID:14655203|PMID:14694169|PMID:15054642|PMID:15327384|PMID:15634722|PMID:15741204|PMID:15912381|PMID:16199547|PMID:16385546|PMID:16703794|PMID:17103332|PMID:17362586|PMID:18492088|PMID:18760270|PMID:19019168|PMID:19092327|PMID:21148271|PMID:21211204|PMID:21366895|PMID:21614936|PMID:22045201|PMID:22194875|PMID:22257548|PMID:23043931|PMID:23386035|PMID:23525542|PMID:23652934|PMID:24033266|PMID:24827988|PMID:25264011|PMID:25658588|PMID:25741868|PMID:26500098|PMID:26603249|PMID:28492532|PMID:29486147|PMID:29659532|PMID:30097038|PMID:30315176|PMID:31591475|PMID:32271837|PMID:33821957 12328907 SLC22A12 solute carrier family 22 member 12 gene DOID:9007733 Familial Renal Hypouricemia due to Tubular Hypersecretion ISO RGD:1323543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial renal hypouricemia PMID:14694169|PMID:15327384|PMID:15741204|PMID:15912381|PMID:16703794|PMID:17362586|PMID:18492088|PMID:19019168|PMID:22045201|PMID:22194875|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29659532|PMID:30097038|PMID:33821957 12328907 SLC22A12 solute carrier family 22 member 12 gene DOID:9351 diabetes mellitus ISO RGD:621628 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:28679589|REF_RGD_ID:13439745 12328928 AXL AXL receptor tyrosine kinase gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1323764 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25741868|PMID:28492532|PMID:32870266 12328928 AXL AXL receptor tyrosine kinase gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1323764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12328928 AXL AXL receptor tyrosine kinase gene DOID:1342 congenital hypoplastic anemia ISO RGD:1323764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12328928 AXL AXL receptor tyrosine kinase gene DOID:13938 amenorrhea ISO RGD:1323764 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:25741868|PMID:28492532|PMID:32870266 12328928 AXL AXL receptor tyrosine kinase gene DOID:1793 pancreatic cancer ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26206560 12328928 AXL AXL receptor tyrosine kinase gene DOID:2340 craniosynostosis ISO RGD:1323764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12328928 AXL AXL receptor tyrosine kinase gene DOID:2921 glomerulonephritis ISO RGD:620028 D RGD:9068941 20200609 RGD PMID:11290560|REF_RGD_ID:1579882 12328928 AXL AXL receptor tyrosine kinase gene DOID:3192 neurilemmoma ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25551830 12328928 AXL AXL receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22751098 12328928 AXL AXL receptor tyrosine kinase gene DOID:5151 plexiform neurofibroma ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25551830 12328928 AXL AXL receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1323764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328928 AXL AXL receptor tyrosine kinase gene DOID:9000081 Lymphatic Metastasis ISO RGD:1323764 D RGD:9068941 20200609 RGD associated Pancreatic Neoplasms PMID:19252414|REF_RGD_ID:2325833 12328928 AXL AXL receptor tyrosine kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26206560 12328928 AXL AXL receptor tyrosine kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12328928 AXL AXL receptor tyrosine kinase gene DOID:9002165 Diabetic Nephropathies ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12644472 12328928 AXL AXL receptor tyrosine kinase gene DOID:9002170 Experimental Neoplasms ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26206560 12328928 AXL AXL receptor tyrosine kinase gene DOID:9002265 Kidney Neoplasms ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25551830 12328928 AXL AXL receptor tyrosine kinase gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1323764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12328928 AXL AXL receptor tyrosine kinase gene DOID:9002514 Neointima ISO RGD:620028 D RGD:9068941 20200609 RGD PMID:9758639|REF_RGD_ID:631894 12328928 AXL AXL receptor tyrosine kinase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26206560 12328928 AXL AXL receptor tyrosine kinase gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:1323764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 12328928 AXL AXL receptor tyrosine kinase gene DOID:9269 maple syrup urine disease ISO RGD:1323764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12328928 AXL AXL receptor tyrosine kinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1323764 D RGD:9068941 20200609 RGD PMID:10528229|REF_RGD_ID:2325834 12328952 APBA3 amyloid beta precursor protein binding family A member 3 gene DOID:13938 amenorrhea ISO RGD:737449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12328952 APBA3 amyloid beta precursor protein binding family A member 3 gene DOID:630 genetic disease ISO RGD:737449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328967 ZNF215 zinc finger protein 215 gene DOID:630 genetic disease ISO RGD:1344334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328980 FBXL3 F-box and leucine rich repeat protein 3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1343078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12328980 FBXL3 F-box and leucine rich repeat protein 3 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1343078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10528251|PMID:20127975|PMID:20157158|PMID:22589734|PMID:28492532|PMID:30394532|PMID:31406620|PMID:32393339|PMID:8001159 12328980 FBXL3 F-box and leucine rich repeat protein 3 gene DOID:630 genetic disease ISO RGD:1343078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328980 FBXL3 F-box and leucine rich repeat protein 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1343078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:18414213|PMID:24767253|PMID:25741868|PMID:28492532 12328980 FBXL3 F-box and leucine rich repeat protein 3 gene DOID:9005631 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS ISO RGD:1343078 D RGD:7240710 20190424 OMIM 12328980 FBXL3 F-box and leucine rich repeat protein 3 gene DOID:9005631 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS ISO RGD:1343078 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, short stature, facial anomalies, and joint dislocations PMID:11477608|PMID:25741868|PMID:30481285 12328989 RASL10A RAS like family 10 member A gene DOID:0111252 neurofibromatosis 2 ISO RGD:1606572 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 12328989 RASL10A RAS like family 10 member A gene DOID:630 genetic disease ISO RGD:1606572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12328989 RASL10A RAS like family 10 member A gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 12328996 FBH1 F-box DNA helicase 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1314839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12328996 FBH1 F-box DNA helicase 1 gene DOID:10283 prostate cancer ISO RGD:1314839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12328996 FBH1 F-box DNA helicase 1 gene DOID:5419 schizophrenia ISO RGD:1314839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12328996 FBH1 F-box DNA helicase 1 gene DOID:630 genetic disease ISO RGD:1314839 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:0050117 disease by infectious agent ISO RGD:732184 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Recurrent infections PMID:28492532 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:0080162 lupus nephritis ISO RGD:732184 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:31182691 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:0080600 COVID-19 ISO RGD:732184 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:0111944 immunodeficiency 31B ISO RGD:732184 D RGD:7240710 20180130 OMIM 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:0111944 immunodeficiency 31B ISO RGD:732184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B | ClinVar Annotator: match by term: Mycobacterial and viral infections, susceptibility to, autosomal recessive PMID:12590259|PMID:16199547|PMID:16585605|PMID:17576681|PMID:19436109|PMID:20841510|PMID:21714643|PMID:21727188|PMID:22195034|PMID:22208278|PMID:22651901|PMID:22730530|PMID:22847544|PMID:23245795|PMID:23534974|PMID:23541320|PMID:23585529|PMID:23709754|PMID:24033266|PMID:24188975|PMID:24239102|PMID:24343863|PMID:25042743|PMID:25326637|PMID:25367169|PMID:25662309|PMID:25741868|PMID:26242301|PMID:26255980|PMID:26467763|PMID:26479788|PMID:26494717|PMID:26513235|PMID:26604104|PMID:26621323|PMID:26732859|PMID:26743090|PMID:26938784|PMID:26948078|PMID:27114460|PMID:27117246|PMID:27146670|PMID:27379765|PMID:27577878|PMID:27808400|PMID:28011069|PMID:28161409|PMID:28258222|PMID:28367431|PMID:28427548|PMID:28492532|PMID:28597685|PMID:28601685|PMID:28622416|PMID:28753426|PMID:28815025|PMID:28859974|PMID:29111217|PMID:29317535|PMID:30030262|PMID:30131873|PMID:30442829|PMID:31114772|PMID:31362757|PMID:31367980|PMID:31448411|PMID:31677808|PMID:31686315|PMID:32135276|PMID:32506361|PMID:32582194|PMID:32888943|PMID:33096415|PMID:33225392|PMID:33679782|PMID:34093558|PMID:34114647|PMID:9536098 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:0111945 immunodeficiency 31A ISO RGD:732184 D RGD:7240710 20180130 OMIM 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:0111945 immunodeficiency 31A ISO RGD:732184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency PMID:11452125|PMID:16934001|PMID:17576681|PMID:19436109|PMID:20841510|PMID:21714643|PMID:21727188|PMID:22195034|PMID:22208278|PMID:22573496|PMID:22847544|PMID:23541320|PMID:23709754|PMID:24033266|PMID:24343863|PMID:25367169|PMID:25741868|PMID:26242301|PMID:26255980|PMID:26494717|PMID:26513235|PMID:26604104|PMID:28161409|PMID:28258222|PMID:28427548|PMID:28492532|PMID:28815025|PMID:30030262|PMID:32135276|PMID:9536098 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:0111946 immunodeficiency 31C ISO RGD:732184 D RGD:7240710 20180130 OMIM 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:0111946 immunodeficiency 31C ISO RGD:732184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome PMID:21714643|PMID:21727188|PMID:22195034|PMID:22730530|PMID:22847544|PMID:23245795|PMID:23534974|PMID:23541320|PMID:23709754|PMID:24033266|PMID:24188975|PMID:24239102|PMID:24343863|PMID:25042743|PMID:25288569|PMID:25326637|PMID:25367169|PMID:25741868|PMID:26242301|PMID:26255980|PMID:26494717|PMID:26604104|PMID:26743090|PMID:27114460|PMID:27379765|PMID:27577878|PMID:28011069|PMID:28161409|PMID:28258222|PMID:28427548|PMID:28492532|PMID:28597685|PMID:28622416|PMID:28815025|PMID:30317461|PMID:30442829|PMID:31362757|PMID:31448411|PMID:32582194|PMID:33679782 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:12155 lymphocytic choriomeningitis exacerbates ISO RGD:732185 D RGD:9068941 20210326 RGD PMID:22496215|REF_RGD_ID:124715469 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:1612 breast cancer ISO RGD:732185 D RGD:9068941 20220825 MouseDO OMIM:114480 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:1612 breast cancer disease_progression ISO RGD:732184 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17868458|REF_RGD_ID:2291892 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:1883 hepatitis C ISO RGD:732184 D RGD:9068941 20210326 RGD protein:increased expression:liver PMID:26216956|REF_RGD_ID:11074283 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:2058 chronic mucocutaneous candidiasis ISO RGD:732184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis PMID:21714643|PMID:21727188|PMID:23541320|PMID:23709754|PMID:24033266|PMID:24343863|PMID:25741868|PMID:26255980|PMID:26494717|PMID:26604104|PMID:28161409|PMID:28427548|PMID:28492532|PMID:28815025 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:2154 nephroblastoma ISO RGD:732184 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:kidney PMID:16799645|REF_RGD_ID:2291893 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:234 colon adenocarcinoma ISO RGD:732184 D RGD:9068941 20220812 RGD DNA:SNPs:introns: (rs2280232, rs4327257) (human) PMID:22121102|REF_RGD_ID:153323313 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:732184 D RGD:9068941 20200609 RGD protein:increased activity:prostate PMID:9748134|REF_RGD_ID:2290484 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:732185 D RGD:9068941 20220825 MouseDO 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:3314 angiomyolipoma ISO RGD:732184 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:kidney PMID:15994429|REF_RGD_ID:2298537 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:732184 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:lung PMID:15994429|REF_RGD_ID:2298537 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:3459 breast carcinoma disease_progression ISO RGD:732184 D RGD:9068941 20200609 RGD protein:increased activity:breast PMID:12374673|REF_RGD_ID:2291894 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:732184 D RGD:9068941 20220729 RGD mRNA:increased expression:stomach (human) PMID:33042401|REF_RGD_ID:153298934 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:3770 pulmonary fibrosis ISO RGD:3771 D RGD:9068941 20200609 RGD PMID:16806015|REF_RGD_ID:1600092 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:4074 pancreatic adenocarcinoma ameliorates ISO RGD:732184 D RGD:9068941 20221027 RGD protein:increased expression:pancreas (human) PMID:24658320|REF_RGD_ID:155630608 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:5082 liver cirrhosis ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17133483 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:5434 scrapie ISO RGD:732185 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17897356|REF_RGD_ID:6483034 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23471820 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:612 primary immunodeficiency disease ISO RGD:732184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:21727188|PMID:22730530|PMID:23534974|PMID:23541320|PMID:23709754|PMID:24239102|PMID:25042743|PMID:25741868|PMID:26604104|PMID:26743090|PMID:27379765|PMID:27577878|PMID:28492532|PMID:28597685 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:630 genetic disease ISO RGD:732184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24343863|PMID:26479788|PMID:27114460|PMID:28492532|PMID:28753426|PMID:30030262 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22488367 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:7148 rheumatoid arthritis ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:824 periodontitis treatment ISO RGD:732185 D RGD:9068941 20200609 RGD PMID:26825585|REF_RGD_ID:18936995 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:9000918 Disease Progression ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22488367 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29147627 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:9000998 Brain Injuries ISO RGD:3771 D RGD:9068941 20200609 RGD PMID:21596098|REF_RGD_ID:6483023 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:9001276 Failure to Thrive ISO RGD:732184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:22730530|PMID:23534974|PMID:23541320|PMID:23709754|PMID:24239102|PMID:25042743|PMID:25741868|PMID:26604104|PMID:26743090|PMID:27379765|PMID:27577878|PMID:28492532|PMID:28597685 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:9001415 Mycobacterium Infections ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11452125 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:9001488 Human Influenza ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:9002457 Experimental Arthritis ISO RGD:3771 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:macrophage, synovial cell PMID:14674010|REF_RGD_ID:1582346 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:9002457 Experimental Arthritis ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15188379 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:732185 D RGD:9068941 20200609 RGD PMID:22066025|REF_RGD_ID:6483041 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3771 D RGD:9068941 20200609 RGD protein:increased phosphorylation:kidney PMID:17670769|REF_RGD_ID:2291900 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3771 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:brain PMID:15262323|REF_RGD_ID:1600103 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:9004484 Sepsis ISO RGD:3771 D RGD:9068941 20200609 RGD protein:increased activity:liver, lung, small intestine PMID:17067487|REF_RGD_ID:2291905 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:9004538 Hearing Loss ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20712533 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:732184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Dominant 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:9004729 Nontuberculous Mycobacterium Infections susceptibility ISO RGD:732184 D RGD:9068941 20200609 RGD DNA:transition: ; 2116T>C PMID:11452125|REF_RGD_ID:1600087 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732185 D RGD:9068941 20200609 RGD PMID:11325527|REF_RGD_ID:2291895 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3771 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:glomerulus PMID:14678947|REF_RGD_ID:1600105 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:9006062 Nervous System Trauma ISO RGD:3771 D RGD:9068941 20200609 RGD protein:increased phosphorylation:ganglion PMID:17097800|REF_RGD_ID:1600090 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16688530 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:9006487 Reoviridae Infections ISO RGD:732185 D RGD:9068941 20200609 RGD PMID:17849321|REF_RGD_ID:6483036 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:9007661 Dwarfism ISO RGD:732184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:22730530|PMID:23534974|PMID:23541320|PMID:23709754|PMID:24239102|PMID:25042743|PMID:25741868|PMID:26604104|PMID:26743090|PMID:27379765|PMID:27577878|PMID:28492532|PMID:28597685 12329024 STAT1 signal transducer and activator of transcription 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3771 D RGD:9068941 20200609 RGD protein:increased phosphorylation:heart PMID:16935931|REF_RGD_ID:1600091 12329057 EXOC8 exocyst complex component 8 gene DOID:0050777 Joubert syndrome ISO RGD:1343470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:22700954 12329057 EXOC8 exocyst complex component 8 gene DOID:1540 parathyroid carcinoma ISO RGD:1343470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12329057 EXOC8 exocyst complex component 8 gene DOID:630 genetic disease ISO RGD:1343470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329057 EXOC8 exocyst complex component 8 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1343470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 12329057 EXOC8 exocyst complex component 8 gene DOID:9007897 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY ISO RGD:1343470 D RGD:7240710 20210120 OMIM 12329057 EXOC8 exocyst complex component 8 gene DOID:9007897 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY ISO RGD:1343470 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy PMID:25741868|PMID:28492532|PMID:32103185 12329057 EXOC8 exocyst complex component 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12329062 ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif 14 gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:1318933 D RGD:9068941 20200609 RGD DNA:SNPs:intron: A>G, C>G (human) PMID:15913795|REF_RGD_ID:6771190 12329062 ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif 14 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1318933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 12329062 ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif 14 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1318933 D RGD:9068941 20200609 RGD DNA:SNP:intron: C>T (human) PMID:15913795|REF_RGD_ID:6771190 12329062 ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif 14 gene DOID:630 genetic disease ISO RGD:1318933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329062 ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif 14 gene DOID:8398 osteoarthritis ISO RGD:1318933 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: (rs4747096) (human) PMID:18790654|REF_RGD_ID:6771189 12329089 ZBTB37 zinc finger and BTB domain containing 37 gene DOID:1540 parathyroid carcinoma ISO RGD:1352612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12329089 ZBTB37 zinc finger and BTB domain containing 37 gene DOID:3755 antithrombin III deficiency ISO RGD:1352612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 12329089 ZBTB37 zinc finger and BTB domain containing 37 gene DOID:630 genetic disease ISO RGD:1352612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329089 ZBTB37 zinc finger and BTB domain containing 37 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1352612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 12329089 ZBTB37 zinc finger and BTB domain containing 37 gene DOID:869 cholesteatoma ISO RGD:1352612 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cholesteatoma 12329089 ZBTB37 zinc finger and BTB domain containing 37 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1352612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 12329089 ZBTB37 zinc finger and BTB domain containing 37 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12329103 CEP192 centrosomal protein 192 gene DOID:0050591 tooth agenesis ISO RGD:1352568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tooth agenesis 12329103 CEP192 centrosomal protein 192 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1352568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12329103 CEP192 centrosomal protein 192 gene DOID:1059 intellectual disability ISO RGD:1352568 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12329103 CEP192 centrosomal protein 192 gene DOID:630 genetic disease ISO RGD:1352568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329119 YBEY ybeY metalloendoribonuclease gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1318661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12329119 YBEY ybeY metalloendoribonuclease gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1318661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 12329119 YBEY ybeY metalloendoribonuclease gene DOID:0110266 cataract 9 multiple types ISO RGD:1318661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12329119 YBEY ybeY metalloendoribonuclease gene DOID:12849 autistic disorder ISO RGD:1318661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12329119 YBEY ybeY metalloendoribonuclease gene DOID:630 genetic disease ISO RGD:1318661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329119 YBEY ybeY metalloendoribonuclease gene DOID:891 progressive myoclonus epilepsy ISO RGD:1318661 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12329119 YBEY ybeY metalloendoribonuclease gene DOID:9263 homocystinuria ISO RGD:1318661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12329119 YBEY ybeY metalloendoribonuclease gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12329145 ACLY ATP citrate lyase gene DOID:6000 congestive heart failure ISO RGD:10065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 12329145 ACLY ATP citrate lyase gene DOID:630 genetic disease ISO RGD:10065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329145 ACLY ATP citrate lyase gene DOID:684 hepatocellular carcinoma ISO RGD:10065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 12329145 ACLY ATP citrate lyase gene DOID:9970 obesity ISO RGD:10065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12329189 TRAF7 TNF receptor associated factor 7 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1604273 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 12329189 TRAF7 TNF receptor associated factor 7 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1604273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 12329189 TRAF7 TNF receptor associated factor 7 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12329189 TRAF7 TNF receptor associated factor 7 gene DOID:1788 peritoneal mesothelioma ISO RGD:1604273 D RGD:9068941 20220224 RGD DNA:missense mutations:multiple PMID:30171198|REF_RGD_ID:151356964 12329189 TRAF7 TNF receptor associated factor 7 gene DOID:1790 malignant mesothelioma ISO RGD:1604273 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 12329189 TRAF7 TNF receptor associated factor 7 gene DOID:1826 epilepsy ISO RGD:1604273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12329189 TRAF7 TNF receptor associated factor 7 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12329189 TRAF7 TNF receptor associated factor 7 gene DOID:2871 endometrial carcinoma ISO RGD:1604273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 12329189 TRAF7 TNF receptor associated factor 7 gene DOID:630 genetic disease ISO RGD:1604273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25961944|PMID:28492532|PMID:29961569|PMID:32376980|PMID:32399599|PMID:32459067 12329189 TRAF7 TNF receptor associated factor 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1604273 D RGD:9068941 20220224 RGD mRNA:increased expression:liver PMID:31730901|REF_RGD_ID:151356961 12329189 TRAF7 TNF receptor associated factor 7 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1604273 D RGD:9068941 20220224 RGD PMID:31730901|REF_RGD_ID:151356961 12329189 TRAF7 TNF receptor associated factor 7 gene DOID:746 adenomatoid tumor ISO RGD:1604273 D RGD:9068941 20220224 RGD DNA:missense mutations:multiple PMID:29148537|REF_RGD_ID:151356962 12329189 TRAF7 TNF receptor associated factor 7 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1604273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12329189 TRAF7 TNF receptor associated factor 7 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1559653 D RGD:9068941 20220224 RGD mRNA, protein:increased expression:spinal cord PMID:30100091|REF_RGD_ID:151356968 12329189 TRAF7 TNF receptor associated factor 7 gene DOID:9002555 Cardiac, Facial, and Digital Anomalies with Developmental Delay ISO RGD:1604273 D RGD:7240710 20190315 OMIM 12329189 TRAF7 TNF receptor associated factor 7 gene DOID:9002555 Cardiac, Facial, and Digital Anomalies with Developmental Delay ISO RGD:1604273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac, facial, and digital anomalies with developmental delay | ClinVar Annotator: match by term: TRAF7-Related Disorder | ClinVar Annotator: match by term: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome PMID:25741868|PMID:25961944|PMID:29961569|PMID:32376980|PMID:32399599 12329189 TRAF7 TNF receptor associated factor 7 gene DOID:9002555 Cardiac, Facial, and Digital Anomalies with Developmental Delay ISO RGD:1604273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac, facial, and digital anomalies with developmental delay | ClinVar Annotator: match by term: TRAF7-Related Disorder | ClinVar Annotator: match by term: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome | ClinVar Annotator: match by term: TRAF7-related syndrome PMID:25741868|PMID:25961944|PMID:28492532|PMID:29961569|PMID:32376980|PMID:32399599|PMID:32459067 12329189 TRAF7 TNF receptor associated factor 7 gene DOID:9008086 Developmental Disabilities ISO RGD:1604273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12329221 PITPNM1 phosphatidylinositol transfer protein membrane associated 1 gene DOID:1059 intellectual disability ISO RGD:1315482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12329221 PITPNM1 phosphatidylinositol transfer protein membrane associated 1 gene DOID:5419 schizophrenia ISO RGD:1315482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12329221 PITPNM1 phosphatidylinositol transfer protein membrane associated 1 gene DOID:630 genetic disease ISO RGD:1315482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329221 PITPNM1 phosphatidylinositol transfer protein membrane associated 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1315482 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12329221 PITPNM1 phosphatidylinositol transfer protein membrane associated 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1315482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12329260 E2F5 E2F transcription factor 5 gene DOID:10283 prostate cancer ISO RGD:731057 D RGD:9068941 20221103 RGD mRNA,protein:increased expression:prostate: PMID:33390186|REF_RGD_ID:155641232 12329260 E2F5 E2F transcription factor 5 gene DOID:10286 prostate carcinoma ameliorates ISO RGD:731057 D RGD:9068941 20221103 RGD PMID:33390186|REF_RGD_ID:155641232 12329260 E2F5 E2F transcription factor 5 gene DOID:10908 hydrocephalus ISO RGD:731058 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 12329260 E2F5 E2F transcription factor 5 gene DOID:3908 lung non-small cell carcinoma ISO RGD:731057 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 12329260 E2F5 E2F transcription factor 5 gene DOID:630 genetic disease ISO RGD:731057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329260 E2F5 E2F transcription factor 5 gene DOID:9000918 Disease Progression ISO RGD:731057 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 12329270 NEGR1 neuronal growth regulator 1 gene DOID:1059 intellectual disability ISO RGD:1348692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12329270 NEGR1 neuronal growth regulator 1 gene DOID:5434 scrapie ISO RGD:1332157 D RGD:9068941 20201204 RGD PMID:29087046|REF_RGD_ID:40886276 12329270 NEGR1 neuronal growth regulator 1 gene DOID:630 genetic disease ISO RGD:1348692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329270 NEGR1 neuronal growth regulator 1 gene DOID:9970 obesity ISO RGD:1348692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19079261 12329281 CMTR1 cap methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1317204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329312 STAMBP STAM binding protein gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1606575 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12329312 STAMBP STAM binding protein gene DOID:10907 microcephaly ISO RGD:1606575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23542699 12329312 STAMBP STAM binding protein gene DOID:1826 epilepsy ISO RGD:1606575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23542699 12329312 STAMBP STAM binding protein gene DOID:543 dystonia ISO RGD:1606575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia 1 PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12329312 STAMBP STAM binding protein gene DOID:630 genetic disease ISO RGD:1606575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12329312 STAMBP STAM binding protein gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1606575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12329312 STAMBP STAM binding protein gene DOID:9004046 Microcephaly-Capillary Malformation Syndrome ISO RGD:1606575 D RGD:7240710 20180130 OMIM 12329312 STAMBP STAM binding protein gene DOID:9004046 Microcephaly-Capillary Malformation Syndrome ISO RGD:1606575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly-capillary malformation syndrome PMID:18414213|PMID:21271646|PMID:21815250|PMID:23542699|PMID:25326635|PMID:25741868|PMID:28492532|PMID:29907875 12329312 STAMBP STAM binding protein gene DOID:9005469 Capillary Malformation-Arteriovenous Malformation ISO RGD:1606575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23542699 12329312 STAMBP STAM binding protein gene DOID:9008086 Developmental Disabilities ISO RGD:1606575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23542699 12329312 STAMBP STAM binding protein gene DOID:936 brain disease ISO RGD:1606575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23542699 12329329 FCRL6 Fc receptor like 6 gene DOID:0080600 COVID-19 ISO RGD:1606397 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12329329 FCRL6 Fc receptor like 6 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1606397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12329329 FCRL6 Fc receptor like 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1606397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12329329 FCRL6 Fc receptor like 6 gene DOID:630 genetic disease ISO RGD:1606397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329329 FCRL6 Fc receptor like 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12329339 NGRN neugrin, neurite outgrowth associated gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1605389 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12329339 NGRN neugrin, neurite outgrowth associated gene DOID:2717 Bloom syndrome ISO RGD:1605389 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12329339 NGRN neugrin, neurite outgrowth associated gene DOID:630 genetic disease ISO RGD:1605389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329339 NGRN neugrin, neurite outgrowth associated gene DOID:9256 colorectal cancer ISO RGD:1605389 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12329348 LOC100686288 zinc finger protein 573 gene DOID:630 genetic disease ISO RGD:1350499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329377 ZSCAN1 zinc finger and SCAN domain containing 1 gene DOID:630 genetic disease ISO RGD:1346488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329474 HHLA2 HHLA2 member of B7 family gene DOID:630 genetic disease ISO RGD:1350112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329487 TSPAN31 tetraspanin 31 gene DOID:2394 ovarian cancer ISO RGD:1320454 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:26467025|PMID:28492532 12329487 TSPAN31 tetraspanin 31 gene DOID:3369 Ewing sarcoma ISO RGD:1320454 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ewing sarcoma PMID:24755471|PMID:25318351|PMID:25741868|PMID:26252490|PMID:26467025|PMID:28166811|PMID:28492532|PMID:30093976|PMID:30851086 12329487 TSPAN31 tetraspanin 31 gene DOID:630 genetic disease ISO RGD:1320454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329487 TSPAN31 tetraspanin 31 gene DOID:6846 familial melanoma ISO RGD:1320454 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:9536098 12329487 TSPAN31 tetraspanin 31 gene DOID:6846 familial melanoma ISO RGD:1320454 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:9536098 12329487 TSPAN31 tetraspanin 31 gene DOID:6846 familial melanoma ISO RGD:1320454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:35264596|PMID:9536098 12329487 TSPAN31 tetraspanin 31 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29917049|PMID:30093976|PMID:31159747 12329487 TSPAN31 tetraspanin 31 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320454 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:9536098 12329487 TSPAN31 tetraspanin 31 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:35264596|PMID:9536098 12329500 EBNA1BP2 EBNA1 binding protein 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12329500 EBNA1BP2 EBNA1 binding protein 2 gene DOID:630 genetic disease ISO RGD:1313990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329500 EBNA1BP2 EBNA1 binding protein 2 gene DOID:9007802 GLUT1 Deficiency Syndrome ISO RGD:1313990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive PMID:28492532 12329513 METTL9 methyltransferase like 9 gene DOID:0080600 COVID-19 ISO RGD:1602890 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12329513 METTL9 methyltransferase like 9 gene DOID:0110480 autosomal recessive nonsyndromic deafness 22 ISO RGD:1602890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 22 PMID:25741868|PMID:33492714 12329513 METTL9 methyltransferase like 9 gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1602890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 9 PMID:25741868 12329513 METTL9 methyltransferase like 9 gene DOID:630 genetic disease ISO RGD:1602890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329527 C8H14orf93 chromosome 8 C14orf93 homolog gene DOID:0060439 lysinuric protein intolerance ISO RGD:1348927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12329527 C8H14orf93 chromosome 8 C14orf93 homolog gene DOID:630 genetic disease ISO RGD:1348927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329527 C8H14orf93 chromosome 8 C14orf93 homolog gene DOID:9000265 Specific Granule Deficiency ISO RGD:1348927 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12329527 C8H14orf93 chromosome 8 C14orf93 homolog gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1348927 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12329539 POLA1 DNA polymerase alpha 1, catalytic subunit gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12329539 POLA1 DNA polymerase alpha 1, catalytic subunit gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:732365 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:19439424|PMID:19738637|PMID:24643514|PMID:26337422|PMID:28492532 12329539 POLA1 DNA polymerase alpha 1, catalytic subunit gene DOID:0111834 X-linked reticulate pigmentary disorder ISO RGD:732365 D RGD:7240710 20190315 OMIM 12329539 POLA1 DNA polymerase alpha 1, catalytic subunit gene DOID:0111834 X-linked reticulate pigmentary disorder ISO RGD:732365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked reticulate pigmentary disorder PMID:25741868|PMID:27019227|PMID:28492532 12329539 POLA1 DNA polymerase alpha 1, catalytic subunit gene DOID:0111840 Van Esch-O'Driscoll syndrome ISO RGD:732365 D RGD:7240710 20190821 OMIM 12329539 POLA1 DNA polymerase alpha 1, catalytic subunit gene DOID:0111840 Van Esch-O'Driscoll syndrome ISO RGD:732365 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, van Esch type PMID:17576681|PMID:25741868|PMID:27019227|PMID:28492532|PMID:31006512|PMID:9536098 12329539 POLA1 DNA polymerase alpha 1, catalytic subunit gene DOID:12849 autistic disorder ISO RGD:732365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12329539 POLA1 DNA polymerase alpha 1, catalytic subunit gene DOID:630 genetic disease ISO RGD:732365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12329539 POLA1 DNA polymerase alpha 1, catalytic subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12329581 ZNF296 zinc finger protein 296 gene DOID:630 genetic disease ISO RGD:1343580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329588 TUB TUB bipartite transcription factor gene DOID:0060041 autism spectrum disorder ISO RGD:1343505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12329588 TUB TUB bipartite transcription factor gene DOID:630 genetic disease ISO RGD:1343505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12329588 TUB TUB bipartite transcription factor gene DOID:8501 fundus dystrophy ISO RGD:1343505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:28492532|PMID:9536098 12329588 TUB TUB bipartite transcription factor gene DOID:9009014 Retinal Dystrophy and Obesity ISO RGD:1343505 D RGD:7240710 20180130 OMIM 12329588 TUB TUB bipartite transcription factor gene DOID:9009014 Retinal Dystrophy and Obesity ISO RGD:1343505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy and obesity PMID:16199547|PMID:24375934|PMID:25741868|PMID:28492532|PMID:31785789 12329588 TUB TUB bipartite transcription factor gene DOID:9970 obesity ISO RGD:732108 D RGD:9068941 20220825 MouseDO OMIM:601665 12329588 TUB TUB bipartite transcription factor gene DOID:9970 obesity no_association ISO RGD:1343505 D RGD:9068941 20200609 RGD PMID:8772727|REF_RGD_ID:1625564 12329588 TUB TUB bipartite transcription factor gene DOID:9970 obesity susceptibility ISO RGD:732108 D RGD:9068941 20200609 RGD DNA:splice-site mutation PMID:8612280|REF_RGD_ID:1625565 12329618 MMP24 matrix metallopeptidase 24 gene DOID:630 genetic disease ISO RGD:732592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329618 MMP24 matrix metallopeptidase 24 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732592 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869830 12329630 LOC486082 XK-related protein 6 gene DOID:630 genetic disease ISO RGD:1321790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329630 LOC486082 XK-related protein 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12329637 CPNE3 copine 3 gene DOID:630 genetic disease ISO RGD:1320926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329637 CPNE3 copine 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264096 12329657 OPRD1 opioid receptor delta 1 gene DOID:0060001 withdrawal disorder ISO RGD:731961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2415332 12329657 OPRD1 opioid receptor delta 1 gene DOID:1826 epilepsy ISO RGD:731961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2415332 12329657 OPRD1 opioid receptor delta 1 gene DOID:303 substance-related disorder ISO RGD:731961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17622222|PMID:20098672 12329657 OPRD1 opioid receptor delta 1 gene DOID:5844 myocardial infarction ISO RGD:3233 D RGD:9068941 20200609 RGD PMID:12798419|PMID:15076225|REF_RGD_ID:2316587|REF_RGD_ID:9831425 12329657 OPRD1 opioid receptor delta 1 gene DOID:630 genetic disease ISO RGD:731961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329657 OPRD1 opioid receptor delta 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:3233 D RGD:9068941 20200609 RGD PMID:10900218|REF_RGD_ID:2316592 12329657 OPRD1 opioid receptor delta 1 gene DOID:9000641 Pain ISO RGD:3233 D RGD:9068941 20200609 RGD PMID:12710986|REF_RGD_ID:2316589 12329657 OPRD1 opioid receptor delta 1 gene DOID:9002916 Hyperphagia ISO RGD:3233 D RGD:9068941 20200609 RGD PMID:9808678|REF_RGD_ID:9831410 12329657 OPRD1 opioid receptor delta 1 gene DOID:9005950 Orthostatic Hypotension ISO RGD:731961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2981652 12329657 OPRD1 opioid receptor delta 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3233 D RGD:9068941 20200609 RGD PMID:12136724|REF_RGD_ID:2316590 12329664 ERICH1 glutamate rich 1 gene DOID:630 genetic disease ISO RGD:1602977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329677 MUSTN1 musculoskeletal, embryonic nuclear protein 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1352078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12329678 TMEM270 transmembrane protein 270 gene DOID:0060041 autism spectrum disorder ISO RGD:1602434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12329678 TMEM270 transmembrane protein 270 gene DOID:10923 sickle cell anemia ISO RGD:1602434 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12329678 TMEM270 transmembrane protein 270 gene DOID:12849 autistic disorder ISO RGD:1602434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12329678 TMEM270 transmembrane protein 270 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1602434 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 12329678 TMEM270 transmembrane protein 270 gene DOID:1929 supravalvular aortic stenosis ISO RGD:1602434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740 12329678 TMEM270 transmembrane protein 270 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12329678 TMEM270 transmembrane protein 270 gene DOID:5419 schizophrenia ISO RGD:1602434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12329678 TMEM270 transmembrane protein 270 gene DOID:8445 intestinal volvulus ISO RGD:1602434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12329678 TMEM270 transmembrane protein 270 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12329678 TMEM270 transmembrane protein 270 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1602434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12329685 YAF2 YY1 associated factor 2 gene DOID:13938 amenorrhea ISO RGD:1314010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12329685 YAF2 YY1 associated factor 2 gene DOID:630 genetic disease ISO RGD:1314010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329693 ACBD3 acyl-CoA binding domain containing 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1348505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12329693 ACBD3 acyl-CoA binding domain containing 3 gene DOID:630 genetic disease ISO RGD:1348505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329693 ACBD3 acyl-CoA binding domain containing 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12329706 SLC25A23 solute carrier family 25 member 23 gene DOID:0080490 mucolipidosis type IV ISO RGD:1343183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12329706 SLC25A23 solute carrier family 25 member 23 gene DOID:630 genetic disease ISO RGD:1343183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329728 TIGD3 tigger transposable element derived 3 gene DOID:1059 intellectual disability ISO RGD:1313398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12329728 TIGD3 tigger transposable element derived 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12329728 TIGD3 tigger transposable element derived 3 gene DOID:2746 glycogen storage disease V ISO RGD:1313398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12329728 TIGD3 tigger transposable element derived 3 gene DOID:3070 high grade glioma ISO RGD:1313398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12329728 TIGD3 tigger transposable element derived 3 gene DOID:630 genetic disease ISO RGD:1313398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329728 TIGD3 tigger transposable element derived 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1313398 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12329728 TIGD3 tigger transposable element derived 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1313398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12329824 CPB1 carboxypeptidase B1 gene DOID:0050579 glycogen storage disease XV ISO RGD:737246 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12329824 CPB1 carboxypeptidase B1 gene DOID:630 genetic disease ISO RGD:737246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329843 ATP11A ATPase phospholipid transporting 11A gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1318606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23583980 12329843 ATP11A ATPase phospholipid transporting 11A gene DOID:0080600 COVID-19 ISO RGD:1318606 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 12329843 ATP11A ATPase phospholipid transporting 11A gene DOID:0110562 autosomal dominant nonsyndromic deafness 33 ISO RGD:1318606 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 33 PMID:25741868|PMID:30311386|PMID:35278131 12329843 ATP11A ATPase phospholipid transporting 11A gene DOID:2222 factor X deficiency ISO RGD:1318606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12329843 ATP11A ATPase phospholipid transporting 11A gene DOID:630 genetic disease ISO RGD:1318606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329843 ATP11A ATPase phospholipid transporting 11A gene DOID:9000796 Autosomal Dominant Nonsyndromic Deafness 84 ISO RGD:1318606 D RGD:7240710 20220615 OMIM 12329843 ATP11A ATPase phospholipid transporting 11A gene DOID:9000796 Autosomal Dominant Nonsyndromic Deafness 84 ISO RGD:1318606 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 84 PMID:25741868|PMID:30311386|PMID:35278131 12329843 ATP11A ATPase phospholipid transporting 11A gene DOID:9001753 Hypomyelinating Leukodystrophy 24 ISO RGD:1318606 D RGD:7240710 20220427 OMIM 12329843 ATP11A ATPase phospholipid transporting 11A gene DOID:9001753 Hypomyelinating Leukodystrophy 24 ISO RGD:1318606 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 24 PMID:34403372 12329892 PYGB glycogen phosphorylase B gene DOID:0080202 adenoid cystic carcinoma ISO RGD:736182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12329892 PYGB glycogen phosphorylase B gene DOID:630 genetic disease ISO RGD:736182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329892 PYGB glycogen phosphorylase B gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:736182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12329892 PYGB glycogen phosphorylase B gene DOID:9007102 Myocardial Ischemia ISO RGD:736182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12329892 PYGB glycogen phosphorylase B gene DOID:9007661 Dwarfism ISO RGD:736182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12329916 NAPB NSF attachment protein beta gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1317299 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:33189936 12329916 NAPB NSF attachment protein beta gene DOID:10283 prostate cancer ISO RGD:1317299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12329916 NAPB NSF attachment protein beta gene DOID:10652 Alzheimer's disease ISO RGD:1317299 D RGD:9068941 20200609 RGD protein:decreased expression:temporal cortex PMID:11244216|REF_RGD_ID:10412652 12329916 NAPB NSF attachment protein beta gene DOID:14250 Down syndrome ISO RGD:1317299 D RGD:9068941 20200609 RGD protein:decreased expression:temporal cortex PMID:11244216|REF_RGD_ID:10412652 12329916 NAPB NSF attachment protein beta gene DOID:630 genetic disease ISO RGD:1317299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329916 NAPB NSF attachment protein beta gene DOID:9004803 Developmental and Epileptic Encephalopathy 107 ISO RGD:1317299 D RGD:7240710 20220921 OMIM 12329916 NAPB NSF attachment protein beta gene DOID:9004803 Developmental and Epileptic Encephalopathy 107 ISO RGD:1317299 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy-107 PMID:25741868|PMID:26235277|PMID:28097321|PMID:33189936 12329939 WFDC8 WAP four-disulfide core domain 8 gene DOID:2234 focal epilepsy ISO RGD:1347537 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12329939 WFDC8 WAP four-disulfide core domain 8 gene DOID:630 genetic disease ISO RGD:1347537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12329939 WFDC8 WAP four-disulfide core domain 8 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1347537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12329947 KARS1 lysyl-tRNA synthetase 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:1345099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:21181198|PMID:23768514|PMID:24824130|PMID:25741868 12329947 KARS1 lysyl-tRNA synthetase 1 gene DOID:0060786 hypomyelinating leukodystrophy ISO RGD:1345099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy PMID:25741868|PMID:33260297 12329947 KARS1 lysyl-tRNA synthetase 1 gene DOID:0110204 Charcot-Marie-Tooth disease recessive intermediate B ISO RGD:1345099 D RGD:7240710 20180130 OMIM 12329947 KARS1 lysyl-tRNA synthetase 1 gene DOID:0110204 Charcot-Marie-Tooth disease recessive intermediate B ISO RGD:1345099 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate B PMID:20920668|PMID:23596069|PMID:24033266|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30252186|PMID:30311386|PMID:30369941|PMID:31116475 12329947 KARS1 lysyl-tRNA synthetase 1 gene DOID:0110534 autosomal recessive nonsyndromic deafness 89 ISO RGD:1345099 D RGD:7240710 20180130 OMIM 12329947 KARS1 lysyl-tRNA synthetase 1 gene DOID:0110534 autosomal recessive nonsyndromic deafness 89 ISO RGD:1345099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 89 PMID:21181198|PMID:21427441|PMID:23596069|PMID:23768514|PMID:24033266|PMID:24824130|PMID:25356970|PMID:25741868|PMID:28492532|PMID:28887846|PMID:29615062|PMID:30252186|PMID:30311386|PMID:30369941|PMID:31116475|PMID:32730690|PMID:33260297|PMID:34062854 12329947 KARS1 lysyl-tRNA synthetase 1 gene DOID:0110989 Joubert syndrome 20 ISO RGD:1345099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 20 PMID:23012439|PMID:23349226|PMID:28492532 12329947 KARS1 lysyl-tRNA synthetase 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1345099 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:23596069|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30252186|PMID:30311386|PMID:30369941|PMID:31116475|PMID:33260297 12329947 KARS1 lysyl-tRNA synthetase 1 gene DOID:10579 leukodystrophy ISO RGD:1345099 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:25741868|PMID:33260297 12329947 KARS1 lysyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1345099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:20920668|PMID:28492532 12329947 KARS1 lysyl-tRNA synthetase 1 gene DOID:11446 sciatic neuropathy ISO RGD:1359653 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:dorsal root ganglion: PMID:25467976|REF_RGD_ID:12910554 12329947 KARS1 lysyl-tRNA synthetase 1 gene DOID:1891 optic nerve disease ISO RGD:1345099 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Optic neuropathy PMID:23596069|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30252186|PMID:30311386|PMID:30369941|PMID:31116475 12329947 KARS1 lysyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1345099 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10913247|PMID:23596069|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30252186|PMID:30369941|PMID:31116475 12329947 KARS1 lysyl-tRNA synthetase 1 gene DOID:9000305 LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS ISO RGD:1345099 D RGD:7240710 20210414 OMIM 12329947 KARS1 lysyl-tRNA synthetase 1 gene DOID:9000305 LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS ISO RGD:1345099 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS | ClinVar Annotator: match by term: Leukoencephalopathy, progressive, infantile-onset, with or without deafness PMID:21181198|PMID:21427441|PMID:23596069|PMID:23768514|PMID:24824130|PMID:25356970|PMID:25741868|PMID:27243033|PMID:28492532|PMID:28887846|PMID:29615062|PMID:30252186|PMID:30369941|PMID:31116475|PMID:32730690|PMID:33260297|PMID:33942428 12329947 KARS1 lysyl-tRNA synthetase 1 gene DOID:9004489 DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY ISO RGD:1345099 D RGD:7240710 20210407 OMIM 12329947 KARS1 lysyl-tRNA synthetase 1 gene DOID:9004489 DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY ISO RGD:1345099 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Deafness, congenital, and adult-onset progressive leukoencephalopathy PMID:21427441|PMID:23596069|PMID:25356970|PMID:25741868|PMID:28492532|PMID:28887846|PMID:29615062|PMID:30252186|PMID:30311386|PMID:30369941|PMID:31116475|PMID:33260297 12329947 KARS1 lysyl-tRNA synthetase 1 gene DOID:9004538 Hearing Loss ISO RGD:1345099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386 12329947 KARS1 lysyl-tRNA synthetase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1345099 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33260297 12329969 LOC479758 zinc finger protein 33B-like gene DOID:10283 prostate cancer ISO RGD:1606870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12329980 CLCN7 chloride voltage-gated channel 7 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:731480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12329980 CLCN7 chloride voltage-gated channel 7 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:731480 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12329980 CLCN7 chloride voltage-gated channel 7 gene DOID:0110938 autosomal dominant osteopetrosis 2 ISO RGD:731480 D RGD:7240710 20180130 OMIM 12329980 CLCN7 chloride voltage-gated channel 7 gene DOID:0110938 autosomal dominant osteopetrosis 2 ISO RGD:731480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 2 PMID:11468688|PMID:11741829|PMID:14584882|PMID:15111300|PMID:1516225|PMID:16118345|PMID:17164308|PMID:17576681|PMID:19238435|PMID:19543743|PMID:19953639|PMID:20301306|PMID:21527911|PMID:21947783|PMID:21962762|PMID:23296056|PMID:23983121|PMID:25741868|PMID:26056022|PMID:26365571|PMID:28492532|PMID:29620724|PMID:30229577|PMID:30942407|PMID:31412925|PMID:32369273|PMID:32552793|PMID:32860008|PMID:9536098 12329980 CLCN7 chloride voltage-gated channel 7 gene DOID:0110944 autosomal recessive osteopetrosis 4 ISO RGD:731480 D RGD:7240710 20180130 OMIM 12329980 CLCN7 chloride voltage-gated channel 7 gene DOID:0110944 autosomal recessive osteopetrosis 4 ISO RGD:731480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 4 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 2 PMID:11207362|PMID:11468688|PMID:11741829|PMID:1516225|PMID:16118345|PMID:16234969|PMID:17033731|PMID:19953639|PMID:199553639|PMID:20301306|PMID:21947783|PMID:23296056|PMID:25741868|PMID:26056022|PMID:28492532|PMID:30229577 12329980 CLCN7 chloride voltage-gated channel 7 gene DOID:13533 osteopetrosis ISO RGD:731480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Albers-Schoenberg disease | ClinVar Annotator: match by term: Osteopetrosis PMID:11741829|PMID:14584882|PMID:16234969|PMID:17164308|PMID:19543743|PMID:20301306|PMID:21527911|PMID:21962762|PMID:23983121|PMID:25410126|PMID:25741868|PMID:26365571|PMID:28492532|PMID:30942407|PMID:31412925|PMID:32369273 12329980 CLCN7 chloride voltage-gated channel 7 gene DOID:1826 epilepsy ISO RGD:731480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12329980 CLCN7 chloride voltage-gated channel 7 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:731480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12329980 CLCN7 chloride voltage-gated channel 7 gene DOID:4254 osteosclerosis ISO RGD:731480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:11741829|PMID:14584882|PMID:16234969|PMID:17164308|PMID:19543743|PMID:20301306|PMID:21527911|PMID:21962762|PMID:23983121|PMID:25741868|PMID:26365571|PMID:28492532|PMID:30942407|PMID:31085352|PMID:31412925|PMID:32369273 12329980 CLCN7 chloride voltage-gated channel 7 gene DOID:630 genetic disease ISO RGD:731480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11741829|PMID:14584882|PMID:17164308|PMID:19543743|PMID:20424301|PMID:21527911|PMID:21962762|PMID:23983121|PMID:25741868|PMID:26365571|PMID:28492532|PMID:30942407|PMID:31412925|PMID:32369273 12329980 CLCN7 chloride voltage-gated channel 7 gene DOID:65 connective tissue disease ISO RGD:731480 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 12329980 CLCN7 chloride voltage-gated channel 7 gene DOID:8466 retinal degeneration ISO RGD:62127 D RGD:9068941 20200609 RGD PMID:11207362|REF_RGD_ID:737783 12329980 CLCN7 chloride voltage-gated channel 7 gene DOID:9000641 Pain ISO RGD:61836 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord dorsal horn PMID:11846422|REF_RGD_ID:1600865 12329980 CLCN7 chloride voltage-gated channel 7 gene DOID:9004721 HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT ISO RGD:731480 D RGD:7240710 20191009 OMIM 12329980 CLCN7 chloride voltage-gated channel 7 gene DOID:9004721 HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT ISO RGD:731480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypopigmentation, organomegaly, and delayed myelination and development PMID:25741868|PMID:28492532|PMID:31155284 12330009 ATP6V1D ATPase H+ transporting V1 subunit D gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1348353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 12330009 ATP6V1D ATPase H+ transporting V1 subunit D gene DOID:630 genetic disease ISO RGD:1348353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330009 ATP6V1D ATPase H+ transporting V1 subunit D gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12330009 ATP6V1D ATPase H+ transporting V1 subunit D gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12330022 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12330022 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1605724 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 12330022 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1605724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 12330022 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:12849 autistic disorder ISO RGD:1605724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12330022 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1605724 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive PMID:20308327|PMID:24033266|PMID:25741868|PMID:27545675|PMID:29938792|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778|PMID:33504798|PMID:34008892 12330022 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:14499 Fabry disease ISO RGD:1605724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:11889412|PMID:15776423|PMID:17532296|PMID:17555407|PMID:18205205|PMID:20022777|PMID:21598360|PMID:21683120|PMID:23691425|PMID:23913314|PMID:23935525|PMID:24033266|PMID:24386359|PMID:25026990|PMID:25040344|PMID:25382311|PMID:25596309|PMID:25741868|PMID:26563328|PMID:27831900|PMID:27979989|PMID:28492532|PMID:30386727|PMID:30594474|PMID:33204599|PMID:34803097|PMID:7531540 12330022 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:2303 stereotypic movement disorder ISO RGD:1605724 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:20308327|PMID:24033266|PMID:25741868|PMID:27545675|PMID:29938792|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778|PMID:33504798|PMID:33728377|PMID:34008892|PMID:34907471 12330022 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:630 genetic disease ISO RGD:1605724 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20308327|PMID:24033266|PMID:25741868|PMID:27545675|PMID:28492532|PMID:29938792|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778|PMID:33504798|PMID:33728377|PMID:34008892|PMID:34907471 12330022 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605724 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:20308327|PMID:24033266|PMID:25741868|PMID:27545675|PMID:29938792|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778|PMID:33504798|PMID:33728377|PMID:34008892|PMID:34907471 12330022 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:9008950 Syndromic X-Linked Mental Retardation, Bain Type ISO RGD:1605724 D RGD:7240710 20190315 OMIM 12330022 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:9008950 Syndromic X-Linked Mental Retardation, Bain Type ISO RGD:1605724 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE PMID:20308327|PMID:24033266|PMID:25741868|PMID:27545675|PMID:28492532|PMID:29938792|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778|PMID:33504798|PMID:33728377|PMID:34008892|PMID:34907471 12330031 ZNF462 zinc finger protein 462 gene DOID:0060224 atrial fibrillation ISO RGD:1352850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12330031 ZNF462 zinc finger protein 462 gene DOID:0112019 non-syndromic X-linked intellectual disability 19 ISO RGD:1352850 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 19 PMID:25741868 12330031 ZNF462 zinc finger protein 462 gene DOID:1059 intellectual disability ISO RGD:1352850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12330031 ZNF462 zinc finger protein 462 gene DOID:14320 generalized anxiety disorder ISO RGD:1318312 D RGD:9068941 20220825 MouseDO 12330031 ZNF462 zinc finger protein 462 gene DOID:1826 epilepsy ISO RGD:1352850 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12330031 ZNF462 zinc finger protein 462 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29059373 12330031 ZNF462 zinc finger protein 462 gene DOID:5426 primary ovarian insufficiency ISO RGD:1352850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12330031 ZNF462 zinc finger protein 462 gene DOID:630 genetic disease ISO RGD:1352850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:31616000 12330031 ZNF462 zinc finger protein 462 gene DOID:9005848 WEISS-KRUSZKA SYNDROME ISO RGD:1352850 D RGD:7240710 20191127 OMIM 12330031 ZNF462 zinc finger protein 462 gene DOID:9005848 WEISS-KRUSZKA SYNDROME ISO RGD:1352850 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Metopic ridging-ptosis-facial dysmorphism syndrome | ClinVar Annotator: match by term: Weiss-kruszka syndrome PMID:25741868|PMID:28492532|PMID:28513610|PMID:31361404 12330031 ZNF462 zinc finger protein 462 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1352850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:28513610 12330067 GPR142 G protein-coupled receptor 142 gene DOID:630 genetic disease ISO RGD:1352818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330074 CCDC97 coiled-coil domain containing 97 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12330074 CCDC97 coiled-coil domain containing 97 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1602452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12330074 CCDC97 coiled-coil domain containing 97 gene DOID:2340 craniosynostosis ISO RGD:1602452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12330074 CCDC97 coiled-coil domain containing 97 gene DOID:630 genetic disease ISO RGD:1602452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330074 CCDC97 coiled-coil domain containing 97 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1602452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12330074 CCDC97 coiled-coil domain containing 97 gene DOID:9269 maple syrup urine disease ISO RGD:1602452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12330083 KCNA4 potassium voltage-gated channel subfamily A member 4 gene DOID:1059 intellectual disability ISO RGD:731771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12330083 KCNA4 potassium voltage-gated channel subfamily A member 4 gene DOID:630 genetic disease ISO RGD:731771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330083 KCNA4 potassium voltage-gated channel subfamily A member 4 gene DOID:9003021 Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum ISO RGD:731771 D RGD:7240710 20190315 OMIM 12330083 KCNA4 potassium voltage-gated channel subfamily A member 4 gene DOID:9003021 Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum ISO RGD:731771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum PMID:23181898|PMID:25741868|PMID:27582084 12330092 EXOG exo/endonuclease G gene DOID:0050451 Brugada syndrome ISO RGD:1312174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 12330092 EXOG exo/endonuclease G gene DOID:630 genetic disease ISO RGD:1312174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330092 EXOG exo/endonuclease G gene DOID:9001436 Immunodeficiency 68 ISO RGD:1312174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532 12330092 EXOG exo/endonuclease G gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1312174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 12330103 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:0060337 CEDNIK syndrome ISO RGD:736810 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CEDNIK syndrome PMID:25741868|PMID:26467025|PMID:28492532 12330103 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:736810 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12330103 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:736810 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12330103 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:0111901 heparin cofactor II deficiency ISO RGD:736810 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Heparin cofactor II deficiency | ClinVar Annotator: match by term: Thrombotic stroke PMID:11204559|PMID:25741868|PMID:2647747|PMID:28492532|PMID:31064749|PMID:34355501|PMID:8562924|PMID:8902986 12330103 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:0112347 hereditary spastic paraplegia 84 ISO RGD:736810 D RGD:7240710 20211201 OMIM 12330103 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:0112347 hereditary spastic paraplegia 84 ISO RGD:736810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 84, autosomal recessive PMID:25741868|PMID:28492532|PMID:34415322 12330103 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:1059 intellectual disability ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12330103 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:11198 DiGeorge syndrome ISO RGD:736810 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12330103 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:11372 megacolon ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12330103 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:12583 velocardiofacial syndrome ISO RGD:736810 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12330103 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:12849 autistic disorder ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12330103 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:1826 epilepsy ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12330103 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:2213 hemorrhagic disease ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 12330103 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:2843 long QT syndrome ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12330103 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:5419 schizophrenia ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12330103 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:612 primary immunodeficiency disease ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12330103 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:630 genetic disease ISO RGD:736810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330103 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:9002810 Gastrointestinal Defects and Immunodeficiency Syndrome 2 ISO RGD:736810 D RGD:7240710 20220202 OMIM 12330103 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:9002810 Gastrointestinal Defects and Immunodeficiency Syndrome 2 ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome 2 PMID:34415310 12330103 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:9003871 Venous Thrombosis ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 12330103 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12330103 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:9007661 Dwarfism ISO RGD:736810 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12330103 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:9008864 POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS ISO RGD:736810 D RGD:7240710 20180130 OMIM 12330103 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:9008864 POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS ISO RGD:736810 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis PMID:25741868|PMID:25855803|PMID:26752647|PMID:28492532|PMID:34415310|PMID:34415322 12330103 PI4KA phosphatidylinositol 4-kinase alpha gene DOID:9281 phenylketonuria ISO RGD:736810 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Phenylketonuria PMID:25741868 12330161 CSGALNACT2 chondroitin sulfate N-acetylgalactosaminyltransferase 2 gene DOID:630 genetic disease ISO RGD:1604805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330184 LYSMD4 LysM domain containing 4 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1606711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 12330184 LYSMD4 LysM domain containing 4 gene DOID:630 genetic disease ISO RGD:1606711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330202 SV2B synaptic vesicle glycoprotein 2B gene DOID:10283 prostate cancer ISO RGD:1343420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12330202 SV2B synaptic vesicle glycoprotein 2B gene DOID:12377 spinal muscular atrophy ISO RGD:1332062 D RGD:9068941 20211203 RGD protein:decreased expression:multiple (mouse) PMID:28173138|REF_RGD_ID:11535337 12330202 SV2B synaptic vesicle glycoprotein 2B gene DOID:557 kidney disease ISO RGD:1343420 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16943307 12330202 SV2B synaptic vesicle glycoprotein 2B gene DOID:630 genetic disease ISO RGD:1343420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330236 ZSCAN25 zinc finger and SCAN domain containing 25 gene DOID:10825 essential hypertension ISO RGD:1318498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension, salt-sensitive essential, susceptibility to PMID:11279519|PMID:11740341|PMID:12065767|PMID:12754175|PMID:15492926 12330236 ZSCAN25 zinc finger and SCAN domain containing 25 gene DOID:437 myasthenia gravis ISO RGD:1318498 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: refractory myasthenia gravis PMID:11279519|PMID:11740341|PMID:12065767|PMID:12754175|PMID:15492926 12330236 ZSCAN25 zinc finger and SCAN domain containing 25 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12330236 ZSCAN25 zinc finger and SCAN domain containing 25 gene DOID:630 genetic disease ISO RGD:1318498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330261 SNAPIN SNAP associated protein gene DOID:0080600 COVID-19 ISO RGD:1351269 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12330261 SNAPIN SNAP associated protein gene DOID:0111940 immunodeficiency 42 ISO RGD:1351269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12330261 SNAPIN SNAP associated protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1351269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12330261 SNAPIN SNAP associated protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1351269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12330261 SNAPIN SNAP associated protein gene DOID:1540 parathyroid carcinoma ISO RGD:1351269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12330261 SNAPIN SNAP associated protein gene DOID:5812 MHC class II deficiency ISO RGD:1351269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12330261 SNAPIN SNAP associated protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12330269 SUSD6 sushi domain containing 6 gene DOID:630 genetic disease ISO RGD:1349623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330292 DLX1 distal-less homeobox 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1320012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21302352 12330292 DLX1 distal-less homeobox 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1320012 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12330292 DLX1 distal-less homeobox 1 gene DOID:12849 autistic disorder ISO RGD:1320012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18728693 12330292 DLX1 distal-less homeobox 1 gene DOID:630 genetic disease ISO RGD:1320012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330292 DLX1 distal-less homeobox 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9187081 12330304 UPF3A UPF3A regulator of nonsense mediated mRNA decay gene DOID:2222 factor X deficiency ISO RGD:1318748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12330304 UPF3A UPF3A regulator of nonsense mediated mRNA decay gene DOID:630 genetic disease ISO RGD:1318748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330346 CRTAC1 cartilage acidic protein 1 gene DOID:630 genetic disease ISO RGD:737274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330368 TFEB transcription factor EB gene DOID:0050444 infantile Refsum disease ISO RGD:1319997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12330368 TFEB transcription factor EB gene DOID:630 genetic disease ISO RGD:1319997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330368 TFEB transcription factor EB gene DOID:9002955 Nerve Degeneration ISO RGD:1319997 D RGD:9068941 20220310 CTD CTD Direct Evidence: therapeutic PMID:34562559 12330368 TFEB transcription factor EB gene DOID:905 Zellweger syndrome ISO RGD:1319997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12330401 NUDT18 nudix hydrolase 18 gene DOID:630 genetic disease ISO RGD:1605623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330401 NUDT18 nudix hydrolase 18 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1605623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12330410 PLGRKT plasminogen receptor with a C-terminal lysine gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1315681 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12330410 PLGRKT plasminogen receptor with a C-terminal lysine gene DOID:630 genetic disease ISO RGD:1315681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330434 CLP1 cleavage factor polyribonucleotide kinase subunit 1 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1602724 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia 12330434 CLP1 cleavage factor polyribonucleotide kinase subunit 1 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1602724 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia 12330434 CLP1 cleavage factor polyribonucleotide kinase subunit 1 gene DOID:0060279 pontocerebellar hypoplasia type 10 ISO RGD:1602724 D RGD:7240710 20180130 OMIM 12330434 CLP1 cleavage factor polyribonucleotide kinase subunit 1 gene DOID:0060279 pontocerebellar hypoplasia type 10 ISO RGD:1602724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 10 PMID:24766809|PMID:24766810|PMID:25741868|PMID:29307788 12330434 CLP1 cleavage factor polyribonucleotide kinase subunit 1 gene DOID:1059 intellectual disability ISO RGD:1602724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12330434 CLP1 cleavage factor polyribonucleotide kinase subunit 1 gene DOID:630 genetic disease ISO RGD:1602724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12330434 CLP1 cleavage factor polyribonucleotide kinase subunit 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12330446 SNCG synuclein gamma gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1345963 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:11536076|PMID:12417513|PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 12330446 SNCG synuclein gamma gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736643 D RGD:9068941 20220825 MouseDO OMIM:105400 12330446 SNCG synuclein gamma gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1345963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 12330446 SNCG synuclein gamma gene DOID:0080855 Parkinsonism ISO RGD:736643 D RGD:9068941 20200609 RGD PMID:15147505|REF_RGD_ID:6478802 12330446 SNCG synuclein gamma gene DOID:10652 Alzheimer's disease ISO RGD:1345963 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:18577885|REF_RGD_ID:6478792 12330446 SNCG synuclein gamma gene DOID:12217 Lewy body dementia ISO RGD:1345963 D RGD:9068941 20200609 RGD PMID:20697047|REF_RGD_ID:6478704 12330446 SNCG synuclein gamma gene DOID:12217 Lewy body dementia ISO RGD:1345963 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:18577885|REF_RGD_ID:6478792 12330446 SNCG synuclein gamma gene DOID:12217 Lewy body dementia ISO RGD:1345963 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:10557341|REF_RGD_ID:6480095 12330446 SNCG synuclein gamma gene DOID:14330 Parkinson's disease ISO RGD:1345963 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:10557341|REF_RGD_ID:6480095 12330446 SNCG synuclein gamma gene DOID:1596 depressive disorder ISO RGD:70996 D RGD:9068941 20200609 RGD PMID:18800064|REF_RGD_ID:6218960 12330446 SNCG synuclein gamma gene DOID:1612 breast cancer disease_progression ISO RGD:1345963 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:16821081|REF_RGD_ID:6478795 12330446 SNCG synuclein gamma gene DOID:1686 glaucoma ISO RGD:1345963 D RGD:9068941 20200609 RGD PMID:18728752|REF_RGD_ID:6218971 12330446 SNCG synuclein gamma gene DOID:1686 glaucoma ISO RGD:70996 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:optic nerve PMID:11933054|REF_RGD_ID:6480100 12330446 SNCG synuclein gamma gene DOID:1793 pancreatic cancer ISO RGD:1345963 D RGD:9068941 20200609 RGD PMID:15221989|REF_RGD_ID:6478801 12330446 SNCG synuclein gamma gene DOID:305 carcinoma ISO RGD:1345963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12330446 SNCG synuclein gamma gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1345963 D RGD:9068941 20200609 RGD PMID:10934140|REF_RGD_ID:6480098 12330446 SNCG synuclein gamma gene DOID:630 genetic disease ISO RGD:1345963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330446 SNCG synuclein gamma gene DOID:768 retinoblastoma ISO RGD:1345963 D RGD:9068941 20200609 RGD PMID:18728752|REF_RGD_ID:6218971 12330446 SNCG synuclein gamma gene DOID:8725 vascular dementia ISO RGD:1345963 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:18577885|REF_RGD_ID:6478792 12330446 SNCG synuclein gamma gene DOID:9000081 Lymphatic Metastasis ISO RGD:1345963 D RGD:9068941 20200609 RGD PMID:15221989|REF_RGD_ID:6478801 12330446 SNCG synuclein gamma gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1345963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12330446 SNCG synuclein gamma gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345963 D RGD:9068941 20200609 RGD DNA:hypomethylation: : PMID:16140929|REF_RGD_ID:6478797 12330446 SNCG synuclein gamma gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345963 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:16821081|REF_RGD_ID:6478795 12330446 SNCG synuclein gamma gene DOID:9000998 Brain Injuries ISO RGD:736643 D RGD:9068941 20200609 RGD PMID:14637093|REF_RGD_ID:6480195 12330446 SNCG synuclein gamma gene DOID:9002362 Hyperkinesis ISO RGD:1345963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18588534 12330446 SNCG synuclein gamma gene DOID:9002955 Nerve Degeneration ISO RGD:736643 D RGD:9068941 20200609 RGD PMID:19246516|REF_RGD_ID:6478696 12330446 SNCG synuclein gamma gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1345963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12330446 SNCG synuclein gamma gene DOID:9005632 Cocaine-Related Disorders ISO RGD:70996 D RGD:9068941 20200609 RGD PMID:20579003|REF_RGD_ID:6218958 12330446 SNCG synuclein gamma gene DOID:9007402 Gliosis ISO RGD:736643 D RGD:9068941 20200609 RGD PMID:19246516|REF_RGD_ID:6478696 12330446 SNCG synuclein gamma gene DOID:9008939 Breast Neoplasms ISO RGD:1345963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20595634 12330455 FAM162B family with sequence similarity 162 member B gene DOID:0060163 body dysmorphic disorder ISO RGD:1351794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 12330455 FAM162B family with sequence similarity 162 member B gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1351794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12330455 FAM162B family with sequence similarity 162 member B gene DOID:1059 intellectual disability ISO RGD:1351794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 12330455 FAM162B family with sequence similarity 162 member B gene DOID:10907 microcephaly ISO RGD:1351794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 12330455 FAM162B family with sequence similarity 162 member B gene DOID:1826 epilepsy ISO RGD:1351794 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12330455 FAM162B family with sequence similarity 162 member B gene DOID:630 genetic disease ISO RGD:1351794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330455 FAM162B family with sequence similarity 162 member B gene DOID:9000495 Tremor ISO RGD:1351794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12330455 FAM162B family with sequence similarity 162 member B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12330463 C31H21orf62 chromosome 31 C21orf62 homolog gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1343736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12330463 C31H21orf62 chromosome 31 C21orf62 homolog gene DOID:0060898 Parkinson's disease 20 ISO RGD:1343736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12330463 C31H21orf62 chromosome 31 C21orf62 homolog gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1343736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12330463 C31H21orf62 chromosome 31 C21orf62 homolog gene DOID:630 genetic disease ISO RGD:1343736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330463 C31H21orf62 chromosome 31 C21orf62 homolog gene DOID:9005698 ZTTK Syndrome ISO RGD:1343736 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 12330484 RPP38 ribonuclease P/MRP subunit p38 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1316690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12330484 RPP38 ribonuclease P/MRP subunit p38 gene DOID:1909 melanoma ISO RGD:1316690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12330484 RPP38 ribonuclease P/MRP subunit p38 gene DOID:630 genetic disease ISO RGD:1316690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330496 SEC22A SEC22 homolog A, vesicle trafficking protein gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1344636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12330496 SEC22A SEC22 homolog A, vesicle trafficking protein gene DOID:630 genetic disease ISO RGD:1344636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330496 SEC22A SEC22 homolog A, vesicle trafficking protein gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1344636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12330496 SEC22A SEC22 homolog A, vesicle trafficking protein gene DOID:9270 alkaptonuria ISO RGD:1344636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12330520 PEX11A peroxisomal biogenesis factor 11 alpha gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1348303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12330520 PEX11A peroxisomal biogenesis factor 11 alpha gene DOID:2717 Bloom syndrome ISO RGD:1348303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12330520 PEX11A peroxisomal biogenesis factor 11 alpha gene DOID:630 genetic disease ISO RGD:1348303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330520 PEX11A peroxisomal biogenesis factor 11 alpha gene DOID:9003370 Dyslipidemias ISO RGD:1348303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30585412 12330520 PEX11A peroxisomal biogenesis factor 11 alpha gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12330520 PEX11A peroxisomal biogenesis factor 11 alpha gene DOID:9256 colorectal cancer ISO RGD:1348303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12330520 PEX11A peroxisomal biogenesis factor 11 alpha gene DOID:9970 obesity ISO RGD:1348303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30585412 12330530 MIR212 microRNA mir-212 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1352239 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12330530 MIR212 microRNA mir-212 gene DOID:10652 Alzheimer's disease ISO RGD:1352239 D RGD:9068941 20230223 RGD RNA:decreased expression:brain PMID:23585551|REF_RGD_ID:7327146 12330530 MIR212 microRNA mir-212 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1352239 D RGD:9068941 20220331 RGD PMID:25965836|REF_RGD_ID:11054501 12330530 MIR212 microRNA mir-212 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352239 D RGD:9068941 20220331 RGD PMID:25965836|REF_RGD_ID:11054501 12330530 MIR212 microRNA mir-212 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1352239 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12330530 MIR212 microRNA mir-212 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1352239 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20613834|PMID:20711185 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:0080596 hyper IgE recurrent infection syndrome 4 ISO RGD:731409 D RGD:7240710 20190911 OMIM 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:0080596 hyper IgE recurrent infection syndrome 4 ISO RGD:731409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4A, autosomal dominant PMID:17576681|PMID:25741868|PMID:28492532|PMID:28747427|PMID:30309848|PMID:32207811|PMID:33771552|PMID:9536098 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:731409 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:25741868 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:10534 stomach cancer ISO RGD:731410 D RGD:9068941 20220825 MouseDO OMIM:137215 | OMIM:613659 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:10652 Alzheimer's disease ISO RGD:731409 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:10095017|REF_RGD_ID:10402847 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:10763 hypertension severity ISO RGD:731409 D RGD:9068941 20200609 RGD Hypertension, Pregnancy-Induced;protein:increased expression:serum PMID:11778537|REF_RGD_ID:1625432 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:11613 hyperandrogenism resistance ISO RGD:731409 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p148G>R PMID:12917504|REF_RGD_ID:1625428 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:11832 visual epilepsy ISO RGD:2903 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus, granule cell (rat) PMID:14597225|REF_RGD_ID:1627572 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:1205 allergic disease ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:1824 status epilepticus ISO RGD:2903 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:14614900|REF_RGD_ID:1627571 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:2316 brain ischemia ISO RGD:2903 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, astrocyte PMID:15469886|REF_RGD_ID:1627568 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:2349 arteriosclerosis ISO RGD:731410 D RGD:9068941 20200609 RGD PMID:17664290|REF_RGD_ID:1626686 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:2349 arteriosclerosis susceptibility ISO RGD:731409 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17664290|REF_RGD_ID:1626686 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:305 carcinoma ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:3261 hyper IgE recurrent infection syndrome 1 ISO RGD:731409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1 PMID:25741868|PMID:32207811 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:3525 middle cerebral artery infarction ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21940958 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:552 pneumonia ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:630 genetic disease ISO RGD:731409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:684 hepatocellular carcinoma ISO RGD:2903 D RGD:9068941 20200609 RGD PMID:15780071|REF_RGD_ID:1626706 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:7148 rheumatoid arthritis ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:7148 rheumatoid arthritis ISO RGD:731410 D RGD:9068941 20220825 MouseDO OMIM:180300 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:8466 retinal degeneration ISO RGD:731410 D RGD:9068941 20200609 RGD PMID:19948961|REF_RGD_ID:10402848 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9000641 Pain ISO RGD:731409 D RGD:9068941 20200609 RGD PMID:20626857|REF_RGD_ID:5509945 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9000702 Stuve-Wiedemann Syndrome 2 ISO RGD:731409 D RGD:7240710 20220330 OMIM 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9000702 Stuve-Wiedemann Syndrome 2 ISO RGD:731409 D RGD:8554872 20220517 ClinVar ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 PMID:25741868|PMID:31914175 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9001114 Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies ISO RGD:731409 D RGD:7240710 20220316 OMIM 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9001114 Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies ISO RGD:731409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 94 with autoinflammation and dysmorphic facies PMID:19020503|PMID:33517393 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9002234 Pituitary Neoplasms ISO RGD:2903 D RGD:9068941 20200609 RGD PMID:15538938|REF_RGD_ID:1627046 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9002304 Prostatic Neoplasms ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475|PMID:29662167 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9002457 Experimental Arthritis ISO RGD:731409 D RGD:9068941 20200609 RGD PMID:20626857|REF_RGD_ID:5509945 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9002720 Splenomegaly ISO RGD:731410 D RGD:9068941 20200609 RGD PMID:12219085|REF_RGD_ID:737752 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9002762 Ovarian Neoplasms ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11161848 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9003936 Cardiomegaly ISO RGD:731410 D RGD:9068941 20200609 RGD PMID:10219240|REF_RGD_ID:737751 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9004009 Reperfusion Injury ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21940958 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9004577 Stuve-Wiedemann Syndrome ISO RGD:731409 D RGD:8554872 20220816 ClinVar ClinVar Annotator: match by term: Stuve-Wiedemann syndrome PMID:25741868|PMID:31914175 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9006599 Hypertriglyceridemia ISO RGD:2903 D RGD:9068941 20200609 RGD PMID:8843746|REF_RGD_ID:1626687 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9007102 Myocardial Ischemia ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12330608 IL6ST interleukin 6 cytokine family signal transducer gene DOID:9008443 Colorectal Neoplasms ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19223499 12330628 PPT1 palmitoyl-protein thioesterase 1 gene DOID:0050952 spastic ataxia ISO RGD:736552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:12382155|PMID:16759889|PMID:19302939|PMID:21990111|PMID:23374165|PMID:25741868|PMID:28492532|PMID:28878621 12330628 PPT1 palmitoyl-protein thioesterase 1 gene DOID:0080600 COVID-19 ISO RGD:736552 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12330628 PPT1 palmitoyl-protein thioesterase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:736552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12330628 PPT1 palmitoyl-protein thioesterase 1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 IAGP D RGD:12801476 20211103 OMIA Neuronal ceroid lipofuscinosis, 1 PMID:20494602|PMID:20429032|PMID:23338040|PMID:28008682|PMID:28860089|PMID:32219101|PMID:33769611 12330628 PPT1 palmitoyl-protein thioesterase 1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:736552 D RGD:7240710 20180130 OMIM 12330628 PPT1 palmitoyl-protein thioesterase 1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:736552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1 PMID:10191107|PMID:10191109|PMID:10477428|PMID:10649502|PMID:10679943|PMID:10781062|PMID:11001811|PMID:11073228|PMID:11332767|PMID:11440996|PMID:11506414|PMID:11520175|PMID:11589012|PMID:11727201|PMID:12125808|PMID:12382155|PMID:12796825|PMID:12855696|PMID:14997939|PMID:15464427|PMID:15965709|PMID:16199547|PMID:16644870|PMID:16759889|PMID:17044973|PMID:17261688|PMID:17565660|PMID:17576681|PMID:18414213|PMID:18704195|PMID:19302939|PMID:19440452|PMID:19793312|PMID:19793631|PMID:19941651|PMID:20301601|PMID:21228398|PMID:21499717|PMID:21704547|PMID:21990111|PMID:22387303|PMID:23374165|PMID:23539563|PMID:23772246|PMID:23857568|PMID:24033266|PMID:24082928|PMID:24997880|PMID:25205113|PMID:2538469|PMID:25525159|PMID:25574475|PMID:25640679|PMID:25741868|PMID:26075876|PMID:26275418|PMID:26467025|PMID:26510000|PMID:26707855|PMID:26795593|PMID:28492532|PMID:28559085|PMID:28878621|PMID:29631617|PMID:29655203|PMID:30378543|PMID:30541466|PMID:30842224|PMID:31741823|PMID:33547378|PMID:33561134|PMID:34114234|PMID:7637805|PMID:9425237|PMID:9536098|PMID:9571187|PMID:9664077|PMID:9733046|PMID:9793631 12330628 PPT1 palmitoyl-protein thioesterase 1 gene DOID:0110731 neuronal ceroid lipofuscinosis 3 ISO RGD:736553 D RGD:9068941 20220825 MouseDO OMIM:204200 12330628 PPT1 palmitoyl-protein thioesterase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:736552 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10191107|PMID:10477428|PMID:10649502|PMID:11073228|PMID:11440996|PMID:11520175|PMID:12796825|PMID:15464427|PMID:19302939|PMID:21499717|PMID:21990111|PMID:22387303|PMID:23374165|PMID:23539563|PMID:25741868|PMID:26510000|PMID:28492532|PMID:28559085|PMID:28878621|PMID:30541466|PMID:9425237|PMID:9664077|PMID:9733046 12330628 PPT1 palmitoyl-protein thioesterase 1 gene DOID:1059 intellectual disability ISO RGD:736552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:28492532 12330628 PPT1 palmitoyl-protein thioesterase 1 gene DOID:1059 intellectual disability ISO RGD:736552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:30541466 12330628 PPT1 palmitoyl-protein thioesterase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736552 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10191107|PMID:10477428|PMID:10649502|PMID:10679943|PMID:10781062|PMID:11001811|PMID:11073228|PMID:11332767|PMID:11440996|PMID:11506414|PMID:11589012|PMID:12382155|PMID:15965709|PMID:16199547|PMID:16644870|PMID:16759889|PMID:17044973|PMID:17261688|PMID:17565660|PMID:18704195|PMID:19302939|PMID:19793312|PMID:19941651|PMID:20301601|PMID:21228398|PMID:21499717|PMID:21990111|PMID:22387303|PMID:23374165|PMID:23539563|PMID:23772246|PMID:24082928|PMID:24997880|PMID:25205113|PMID:2538469|PMID:25525159|PMID:25574475|PMID:25741868|PMID:26467025|PMID:26707855|PMID:26795593|PMID:28492532|PMID:28878621|PMID:29631617|PMID:31741823|PMID:33561134|PMID:7637805|PMID:9425237|PMID:9571187|PMID:9664077|PMID:9733046|PMID:9793631 12330628 PPT1 palmitoyl-protein thioesterase 1 gene DOID:14566 disease of cellular proliferation ISO RGD:736552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30442709 12330628 PPT1 palmitoyl-protein thioesterase 1 gene DOID:1826 epilepsy ISO RGD:736552 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12330628 PPT1 palmitoyl-protein thioesterase 1 gene DOID:3529 central core disease ISO RGD:736552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:18414213|PMID:21990111|PMID:24033266|PMID:25741868|PMID:28492532 12330628 PPT1 palmitoyl-protein thioesterase 1 gene DOID:630 genetic disease ISO RGD:736552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10191107|PMID:10191109|PMID:10477428|PMID:10649502|PMID:10679943|PMID:10781062|PMID:11001811|PMID:11073228|PMID:11332767|PMID:11440996|PMID:11506414|PMID:11520175|PMID:12796825|PMID:12855696|PMID:15464427|PMID:15965709|PMID:17044973|PMID:17261688|PMID:17565660|PMID:17576681|PMID:18414213|PMID:19201763|PMID:19302939|PMID:19793312|PMID:19941651|PMID:20301601|PMID:21228398|PMID:21499717|PMID:21704547|PMID:21990111|PMID:22387303|PMID:23374165|PMID:23539563|PMID:23772246|PMID:24033266|PMID:24082928|PMID:24997880|PMID:25205113|PMID:2538469|PMID:25525159|PMID:25574475|PMID:25741868|PMID:26467025|PMID:26510000|PMID:26795593|PMID:28492532|PMID:28559085|PMID:28878621|PMID:29631617|PMID:30378543|PMID:30541466|PMID:33561134|PMID:7637805|PMID:9425237|PMID:9536098|PMID:9664077|PMID:9733046|PMID:9793631 12330628 PPT1 palmitoyl-protein thioesterase 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:736552 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive PMID:10649502|PMID:10679943|PMID:11440996|PMID:11506414|PMID:17261688|PMID:19793312|PMID:20301601|PMID:21228398|PMID:21990111|PMID:23539563|PMID:23772246|PMID:24082928|PMID:25205113|PMID:25525159|PMID:25574475|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9425237|PMID:9664077|PMID:9733046 12330628 PPT1 palmitoyl-protein thioesterase 1 gene DOID:9006534 Nervous System Malformations ISO RGD:736552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:21990111|PMID:25741868 12330628 PPT1 palmitoyl-protein thioesterase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:736552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:10477428|PMID:11440996|PMID:19302939|PMID:21499717|PMID:21990111|PMID:22387303|PMID:23374165|PMID:25741868|PMID:28492532|PMID:28878621|PMID:31741823|PMID:9664077 12330650 GDPGP1 GDP-D-glucose phosphorylase 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1605191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12330650 GDPGP1 GDP-D-glucose phosphorylase 1 gene DOID:2717 Bloom syndrome ISO RGD:1605191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12330650 GDPGP1 GDP-D-glucose phosphorylase 1 gene DOID:630 genetic disease ISO RGD:1605191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330650 GDPGP1 GDP-D-glucose phosphorylase 1 gene DOID:9256 colorectal cancer ISO RGD:1605191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12330663 COMMD5 COMM domain containing 5 gene DOID:630 genetic disease ISO RGD:1348607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330671 NPY2R neuropeptide Y receptor Y2 gene DOID:0050830 peripheral artery disease ISO RGD:1348310 D RGD:9068941 20200609 RGD PMID:21468772|REF_RGD_ID:10448273 12330671 NPY2R neuropeptide Y receptor Y2 gene DOID:0060001 withdrawal disorder ISO RGD:1348310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18828811 12330671 NPY2R neuropeptide Y receptor Y2 gene DOID:11981 morbid obesity ISO RGD:1348310 D RGD:9068941 20200609 RGD DNA:SNP:CDS:NCBI refSNP IDs=rs1047214, rs2880415 coding for silent Ile variants; Pima Indians, males only PMID:15855352|REF_RGD_ID:1642381 12330671 NPY2R neuropeptide Y receptor Y2 gene DOID:12858 Huntington's disease onset ISO RGD:1348310 D RGD:9068941 20200609 RGD DNA:SNP: :rs2234759 (human) PMID:24121255|REF_RGD_ID:10431606 12330671 NPY2R neuropeptide Y receptor Y2 gene DOID:1574 alcohol use disorder ISO RGD:1348310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18828811 12330671 NPY2R neuropeptide Y receptor Y2 gene DOID:1596 depressive disorder treatment ISO RGD:620475 D RGD:9068941 20200609 RGD PMID:21803058|REF_RGD_ID:10448284 12330671 NPY2R neuropeptide Y receptor Y2 gene DOID:1825 childhood absence epilepsy treatment ISO RGD:620475 D RGD:9068941 20200609 RGD PMID:17331209|REF_RGD_ID:10448963 12330671 NPY2R neuropeptide Y receptor Y2 gene DOID:1826 epilepsy ISO RGD:1348310 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8868293 12330671 NPY2R neuropeptide Y receptor Y2 gene DOID:1936 atherosclerosis ISO RGD:1551786 D RGD:9068941 20200609 RGD PMID:21468772|REF_RGD_ID:10448273 12330671 NPY2R neuropeptide Y receptor Y2 gene DOID:3328 temporal lobe epilepsy ISO RGD:1348310 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15716408 12330671 NPY2R neuropeptide Y receptor Y2 gene DOID:3328 temporal lobe epilepsy ISO RGD:1348310 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:15337376|REF_RGD_ID:1642609 12330671 NPY2R neuropeptide Y receptor Y2 gene DOID:630 genetic disease ISO RGD:1348310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330671 NPY2R neuropeptide Y receptor Y2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1348310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18828811 12330671 NPY2R neuropeptide Y receptor Y2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620475 D RGD:9068941 20200609 RGD PMID:18201831|REF_RGD_ID:10448967 12330671 NPY2R neuropeptide Y receptor Y2 gene DOID:9970 obesity ISO RGD:1348310 D RGD:9068941 20200609 RGD DNA:SNP:promoter:−4448C>A, NCBI refSNP ID=rs12649641; Danish white subjects PMID:17019604|REF_RGD_ID:1642379 12330671 NPY2R neuropeptide Y receptor Y2 gene DOID:9970 obesity ISO RGD:620475 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus PMID:17447163|REF_RGD_ID:10448938 12330677 PRG3 proteoglycan 3, pro eosinophil major basic protein 2 gene DOID:1059 intellectual disability ISO RGD:1320501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12330677 PRG3 proteoglycan 3, pro eosinophil major basic protein 2 gene DOID:630 genetic disease ISO RGD:1320501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330684 TMEM43 transmembrane protein 43 gene DOID:0050427 xeroderma pigmentosum ISO RGD:1348900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:18414213|PMID:23400628|PMID:25741868|PMID:28492532 12330684 TMEM43 transmembrane protein 43 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1348900 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:18313022|PMID:18414213|PMID:19467449|PMID:20010364|PMID:21214875|PMID:22458570|PMID:22725725|PMID:23161701|PMID:23400628|PMID:23671136|PMID:23810883|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24598986|PMID:25343256|PMID:25741868|PMID:26467025|PMID:26513349|PMID:27153395|PMID:28471438|PMID:28491673|PMID:28492532|PMID:29040414|PMID:29980933|PMID:30700137 12330684 TMEM43 transmembrane protein 43 gene DOID:0050700 cardiomyopathy ISO RGD:1348900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:17576681|PMID:18313022|PMID:18414213|PMID:19467449|PMID:20010364|PMID:20435227|PMID:21214875|PMID:21391237|PMID:21636032|PMID:22458570|PMID:22725725|PMID:23161701|PMID:23178689|PMID:23555315|PMID:23671136|PMID:23810883|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24598986|PMID:25214167|PMID:25343256|PMID:25351510|PMID:25676813|PMID:25741868|PMID:25820315|PMID:26467025|PMID:26513349|PMID:26743238|PMID:26840987|PMID:27153395|PMID:27532257|PMID:28166811|PMID:28301460|PMID:28471438|PMID:28491673|PMID:28492532|PMID:28750076|PMID:29040414|PMID:29247119|PMID:29980933|PMID:30206291|PMID:30700137|PMID:31333075|PMID:31568572|PMID:9536098 12330684 TMEM43 transmembrane protein 43 gene DOID:0050700 cardiomyopathy ISO RGD:1348900 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:17576681|PMID:18313022|PMID:18414213|PMID:19467449|PMID:20010364|PMID:20435227|PMID:21214875|PMID:21391237|PMID:21636032|PMID:22458570|PMID:22725725|PMID:23161701|PMID:23178689|PMID:23555315|PMID:23671136|PMID:23810883|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24598986|PMID:25214167|PMID:25343256|PMID:25351510|PMID:25676813|PMID:25741868|PMID:25820315|PMID:26214305|PMID:26467025|PMID:26513349|PMID:26743238|PMID:26840987|PMID:27005929|PMID:27153395|PMID:27532257|PMID:28087566|PMID:28166811|PMID:28301460|PMID:28341588|PMID:28471438|PMID:28491673|PMID:28492532|PMID:28750076|PMID:29040414|PMID:29192238|PMID:29311375|PMID:29476165|PMID:29980933|PMID:30206291|PMID:30276209|PMID:30700137|PMID:30847666|PMID:30975432|PMID:31333075|PMID:31376648|PMID:31568572|PMID:31847883|PMID:32840935|PMID:33552729|PMID:33652588|PMID:33968641|PMID:34050020|PMID:9536098 12330684 TMEM43 transmembrane protein 43 gene DOID:0050700 cardiomyopathy ISO RGD:1348900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:16199547|PMID:17576681|PMID:18313022|PMID:18414213|PMID:19467449|PMID:20010364|PMID:20435227|PMID:21214875|PMID:21391237|PMID:21636032|PMID:22458570|PMID:22725725|PMID:23161701|PMID:23178689|PMID:23555315|PMID:23671136|PMID:23810883|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24598986|PMID:25214167|PMID:25343256|PMID:25351510|PMID:25676813|PMID:25741868|PMID:25820315|PMID:26214305|PMID:26467025|PMID:26513349|PMID:26743238|PMID:26840987|PMID:27005929|PMID:27153395|PMID:27532257|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28471438|PMID:28491673|PMID:28492532|PMID:28750076|PMID:29040414|PMID:29192238|PMID:29247119|PMID:29311375|PMID:29476165|PMID:29980933|PMID:30206291|PMID:30276209|PMID:30615648|PMID:30700137|PMID:30847666|PMID:30975432|PMID:31333075|PMID:31376648|PMID:31568572|PMID:31847883|PMID:32840935|PMID:32880476|PMID:33552729|PMID:33652588|PMID:33968641|PMID:34050020|PMID:9536098 12330684 TMEM43 transmembrane protein 43 gene DOID:0060417 3p deletion syndrome ISO RGD:1348900 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12330684 TMEM43 transmembrane protein 43 gene DOID:0070252 autosomal dominant Emery-Dreifuss muscular dystrophy 7 ISO RGD:1348900 D RGD:7240710 20180130 OMIM 12330684 TMEM43 transmembrane protein 43 gene DOID:0070252 autosomal dominant Emery-Dreifuss muscular dystrophy 7 ISO RGD:1348900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, AD | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, autosomal dominant PMID:18230648|PMID:18313022|PMID:18414213|PMID:20435227|PMID:21391237|PMID:21636032|PMID:23161701|PMID:23178689|PMID:23555315|PMID:23812740|PMID:23861362|PMID:24033266|PMID:25343256|PMID:25351510|PMID:25741868|PMID:25820315|PMID:26467025|PMID:26840987|PMID:28492532|PMID:29311375|PMID:30847666|PMID:34050020 12330684 TMEM43 transmembrane protein 43 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1348900 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:26214305|PMID:28492532|PMID:33552729 12330684 TMEM43 transmembrane protein 43 gene DOID:0110074 arrhythmogenic right ventricular dysplasia 5 ISO RGD:1348900 D RGD:7240710 20180130 OMIM 12330684 TMEM43 transmembrane protein 43 gene DOID:0110074 arrhythmogenic right ventricular dysplasia 5 ISO RGD:1348900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 5 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 5 PMID:16199547|PMID:17576681|PMID:18230648|PMID:18313022|PMID:18414213|PMID:19467449|PMID:20010364|PMID:20435227|PMID:21214875|PMID:21391237|PMID:21636032|PMID:22458570|PMID:22725725|PMID:23161701|PMID:23178689|PMID:23555315|PMID:23671136|PMID:23810883|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24598986|PMID:25214167|PMID:25343256|PMID:25351510|PMID:25676813|PMID:25741868|PMID:25820315|PMID:26214305|PMID:26467025|PMID:26513349|PMID:26743238|PMID:26840987|PMID:27005929|PMID:27153395|PMID:27532257|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28491673|PMID:28492532|PMID:28750076|PMID:29040414|PMID:29192238|PMID:29247119|PMID:29311375|PMID:29980933|PMID:30206291|PMID:30276209|PMID:30471092|PMID:30615648|PMID:30700137|PMID:30847666|PMID:30975432|PMID:31333075|PMID:31376648|PMID:31568572|PMID:32880476|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33968641|PMID:34050020|PMID:9536098 12330684 TMEM43 transmembrane protein 43 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1348900 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:26214305|PMID:28492532|PMID:33552729 12330684 TMEM43 transmembrane protein 43 gene DOID:0110844 xeroderma pigmentosum group C ISO RGD:1348900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group C PMID:18414213|PMID:23400628|PMID:25741868|PMID:28492532 12330684 TMEM43 transmembrane protein 43 gene DOID:0112373 autosomal dominant auditory neuropathy 3 ISO RGD:1348900 D RGD:7240710 20220427 OMIM 12330684 TMEM43 transmembrane protein 43 gene DOID:0112373 autosomal dominant auditory neuropathy 3 ISO RGD:1348900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant 3 PMID:18230648|PMID:20435227|PMID:21391237|PMID:21636032|PMID:23161701|PMID:23178689|PMID:23555315|PMID:23812740|PMID:23861362|PMID:24033266|PMID:25343256|PMID:25351510|PMID:25741868|PMID:25820315|PMID:26467025|PMID:26840987|PMID:28492532|PMID:29311375|PMID:30847666|PMID:34050020 12330684 TMEM43 transmembrane protein 43 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1348900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12330684 TMEM43 transmembrane protein 43 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1348900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:18313022|PMID:19467449|PMID:20010364|PMID:21214875|PMID:22458570|PMID:22725725|PMID:23671136|PMID:23810883|PMID:23812740|PMID:24125834|PMID:24598986|PMID:25343256|PMID:25741868|PMID:26513349|PMID:28491673|PMID:28492532|PMID:29040414|PMID:29980933|PMID:30700137 12330684 TMEM43 transmembrane protein 43 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18313022|PMID:19467449|PMID:20010364|PMID:21214875|PMID:22458570|PMID:22725725|PMID:23671136|PMID:23810883|PMID:23812740|PMID:24125834|PMID:24598986|PMID:25343256|PMID:25741868|PMID:26513349|PMID:28491673|PMID:28492532|PMID:29040414|PMID:29980933|PMID:30700137 12330684 TMEM43 transmembrane protein 43 gene DOID:2843 long QT syndrome ISO RGD:1348900 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25343256|PMID:25741868|PMID:28492532 12330684 TMEM43 transmembrane protein 43 gene DOID:630 genetic disease ISO RGD:1348900 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12330684 TMEM43 transmembrane protein 43 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1348900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 12330684 TMEM43 transmembrane protein 43 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12330684 TMEM43 transmembrane protein 43 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1348900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12330700 SEPTIN5 septin 5 gene DOID:0060041 autism spectrum disorder ISO RGD:30304160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12330700 SEPTIN5 septin 5 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:30304160 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12330700 SEPTIN5 septin 5 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:30304160 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12330700 SEPTIN5 septin 5 gene DOID:0111996 immunodeficiency 51 ISO RGD:30304160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12330700 SEPTIN5 septin 5 gene DOID:1059 intellectual disability ISO RGD:30304160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12330700 SEPTIN5 septin 5 gene DOID:11198 DiGeorge syndrome ISO RGD:30304160 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12330700 SEPTIN5 septin 5 gene DOID:11372 megacolon ISO RGD:30304160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12330700 SEPTIN5 septin 5 gene DOID:11394 adult respiratory distress syndrome ISO RGD:30304160 D RGD:9068941 20200625 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12330700 SEPTIN5 septin 5 gene DOID:12583 velocardiofacial syndrome ISO RGD:30304160 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12330700 SEPTIN5 septin 5 gene DOID:12849 autistic disorder ISO RGD:30304160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12330700 SEPTIN5 septin 5 gene DOID:1826 epilepsy ISO RGD:30304160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12330700 SEPTIN5 septin 5 gene DOID:2213 hemorrhagic disease ISO RGD:30304160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 12330700 SEPTIN5 septin 5 gene DOID:5419 schizophrenia ISO RGD:30304160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12330700 SEPTIN5 septin 5 gene DOID:612 primary immunodeficiency disease ISO RGD:30304160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12330700 SEPTIN5 septin 5 gene DOID:630 genetic disease ISO RGD:30304160 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330700 SEPTIN5 septin 5 gene DOID:9003871 Venous Thrombosis ISO RGD:30304160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 12330700 SEPTIN5 septin 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:30304160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12330700 SEPTIN5 septin 5 gene DOID:9007661 Dwarfism ISO RGD:30304160 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12330700 SEPTIN5 septin 5 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:30304160 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12330715 ARPP19 cAMP regulated phosphoprotein 19 gene DOID:2717 Bloom syndrome ISO RGD:1606318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12330715 ARPP19 cAMP regulated phosphoprotein 19 gene DOID:607 paraplegia ISO RGD:1606318 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 12330715 ARPP19 cAMP regulated phosphoprotein 19 gene DOID:630 genetic disease ISO RGD:1606318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330715 ARPP19 cAMP regulated phosphoprotein 19 gene DOID:9256 colorectal cancer ISO RGD:1606318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12330722 RWDD2B RWD domain containing 2B gene DOID:630 genetic disease ISO RGD:1312868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330741 NLGN1 neuroligin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736454 D RGD:9068941 20220825 MouseDO 12330741 NLGN1 neuroligin 1 gene DOID:12849 autistic disorder ISO RGD:736453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, 20 PMID:28972980 12330741 NLGN1 neuroligin 1 gene DOID:1824 status epilepticus ISO RGD:621117 D RGD:9068941 20200609 RGD PMID:22539981|REF_RGD_ID:9831126 12330741 NLGN1 neuroligin 1 gene DOID:630 genetic disease ISO RGD:736453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330770 KIF26A kinesin family member 26A gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1317452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12330770 KIF26A kinesin family member 26A gene DOID:630 genetic disease ISO RGD:1317452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:36228617 12330770 KIF26A kinesin family member 26A gene DOID:9007250 Complex Cortical Dysplasia with Other Brain Malformations 11 ISO RGD:1317452 D RGD:7240710 20221214 OMIM 12330770 KIF26A kinesin family member 26A gene DOID:9007250 Complex Cortical Dysplasia with Other Brain Malformations 11 ISO RGD:1317452 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 11 PMID:36228617 12330796 ANKRD29 ankyrin repeat domain 29 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1317259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 12330796 ANKRD29 ankyrin repeat domain 29 gene DOID:1059 intellectual disability ISO RGD:1317259 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12330796 ANKRD29 ankyrin repeat domain 29 gene DOID:630 genetic disease ISO RGD:1317259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330818 PKIG cAMP-dependent protein kinase inhibitor gamma gene DOID:2234 focal epilepsy ISO RGD:1350390 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12330818 PKIG cAMP-dependent protein kinase inhibitor gamma gene DOID:630 genetic disease ISO RGD:1350390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330818 PKIG cAMP-dependent protein kinase inhibitor gamma gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12330854 SMIM3 small integral membrane protein 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605605 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12330854 SMIM3 small integral membrane protein 3 gene DOID:630 genetic disease ISO RGD:1605605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330854 SMIM3 small integral membrane protein 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605605 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12330894 LOC100684639 proline-rich nuclear receptor coactivator 2-like gene DOID:630 genetic disease ISO RGD:1351134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330894 LOC100684639 proline-rich nuclear receptor coactivator 2-like gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1351134 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12330899 CCDC34 coiled-coil domain containing 34 gene DOID:0111910 spermatogenic failure ISO RGD:1619187 D RGD:9068941 20230323 MouseDO 12330899 CCDC34 coiled-coil domain containing 34 gene DOID:1059 intellectual disability ISO RGD:1606993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12330899 CCDC34 coiled-coil domain containing 34 gene DOID:630 genetic disease ISO RGD:1606993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330899 CCDC34 coiled-coil domain containing 34 gene DOID:9002551 Spermatogenic Failure 76 ISO RGD:1606993 D RGD:7240710 20221102 OMIM 12330899 CCDC34 coiled-coil domain containing 34 gene DOID:9002551 Spermatogenic Failure 76 ISO RGD:1606993 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 76 PMID:34348960 12330900 REP15 RAB15 effector protein gene DOID:630 genetic disease ISO RGD:2306721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330906 GNG11 G protein subunit gamma 11 gene DOID:3910 lung adenocarcinoma ISO RGD:735931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24366584 12330906 GNG11 G protein subunit gamma 11 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12330906 GNG11 G protein subunit gamma 11 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12330912 ARHGEF17 Rho guanine nucleotide exchange factor 17 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1320476 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12330912 ARHGEF17 Rho guanine nucleotide exchange factor 17 gene DOID:1059 intellectual disability ISO RGD:1320476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12330912 ARHGEF17 Rho guanine nucleotide exchange factor 17 gene DOID:630 genetic disease ISO RGD:1320476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330954 GJA1 gap junction protein alpha 1 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:10649 D RGD:9068941 20230420 RGD protein:decreased expression:cardiac ventricle (mouse) PMID:27412010|REF_RGD_ID:265253172 12330954 GJA1 gap junction protein alpha 1 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:736925 D RGD:9068941 20200609 RGD protein:altered expression:ventricle PMID:23178689|REF_RGD_ID:11352402 12330954 GJA1 gap junction protein alpha 1 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:736925 D RGD:9068941 20200609 RGD protein:decreased expression:buccal mucosa PMID:26850880|REF_RGD_ID:13592599 12330954 GJA1 gap junction protein alpha 1 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:736925 D RGD:9068941 20200609 RGD DNA:mutations:cds:p.E227D,p.A44V(human) PMID:25398053|REF_RGD_ID:11568612 12330954 GJA1 gap junction protein alpha 1 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:2690 D RGD:9068941 20200609 RGD protein:decreased expression:epithelium PMID:23568744|REF_RGD_ID:8662380 12330954 GJA1 gap junction protein alpha 1 gene DOID:0060224 atrial fibrillation ISO RGD:2690 D RGD:9068941 20200609 RGD protein:increased localization:lateral plasma membrane, cardiac muscle cell PMID:11527649|REF_RGD_ID:7207850 12330954 GJA1 gap junction protein alpha 1 gene DOID:0060224 atrial fibrillation ISO RGD:736925 D RGD:9068941 20200609 RGD associated with Rheumatic Diseases;protein:decreased expression:myocardium of atrium PMID:16953110|REF_RGD_ID:8662373 12330954 GJA1 gap junction protein alpha 1 gene DOID:0060224 atrial fibrillation ISO RGD:736925 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium of atrium PMID:12062341|REF_RGD_ID:8662382 12330954 GJA1 gap junction protein alpha 1 gene DOID:0060224 atrial fibrillation susceptibility ISO RGD:10649 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.G60S(mouse) PMID:21239638|REF_RGD_ID:12910123 12330954 GJA1 gap junction protein alpha 1 gene DOID:0060291 oculodentodigital dysplasia ISO RGD:736925 D RGD:7240710 20180130 OMIM 12330954 GJA1 gap junction protein alpha 1 gene DOID:0060291 oculodentodigital dysplasia ISO RGD:736925 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Oculodentodigital dysplasia PMID:10331943|PMID:1057461|PMID:11470490|PMID:12457340|PMID:15108203|PMID:15192806|PMID:15551259|PMID:15637728|PMID:15879313|PMID:16531323|PMID:16709485|PMID:17256797|PMID:18003637|PMID:18079109|PMID:18946008|PMID:19057520|PMID:19338053|PMID:19638688|PMID:21215473|PMID:21670345|PMID:22090377|PMID:220941|PMID:22179534|PMID:2309863|PMID:23103513|PMID:23304551|PMID:23465283|PMID:23550541|PMID:24115525|PMID:25327171|PMID:25388818|PMID:25741868|PMID:27226478|PMID:28492532|PMID:30628995|PMID:32318302|PMID:34630166|PMID:4209752|PMID:7815444 12330954 GJA1 gap junction protein alpha 1 gene DOID:0070210 hereditary lymphedema IA ISO RGD:736925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Edema of the dorsum of feet PMID:25741868 12330954 GJA1 gap junction protein alpha 1 gene DOID:0070355 overactive bladder syndrome ISO RGD:2690 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:17855776|REF_RGD_ID:7207474 12330954 GJA1 gap junction protein alpha 1 gene DOID:0080249 erythrokeratodermia variabilis et progressiva 3 ISO RGD:736925 D RGD:7240710 20190315 OMIM 12330954 GJA1 gap junction protein alpha 1 gene DOID:0080249 erythrokeratodermia variabilis et progressiva 3 ISO RGD:736925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 3 PMID:25398053|PMID:28492532|PMID:30628963|PMID:30631135 12330954 GJA1 gap junction protein alpha 1 gene DOID:0080802 autosomal recessive craniometaphyseal dysplasia ISO RGD:736925 D RGD:7240710 20180130 OMIM 12330954 GJA1 gap junction protein alpha 1 gene DOID:0080802 autosomal recessive craniometaphyseal dysplasia ISO RGD:736925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive PMID:11146471|PMID:23951358|PMID:25741868|PMID:28492532 12330954 GJA1 gap junction protein alpha 1 gene DOID:0080855 Parkinsonism treatment ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:23783886|REF_RGD_ID:8662444 12330954 GJA1 gap junction protein alpha 1 gene DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 ISO RGD:736925 D RGD:7240710 20180130 OMIM 12330954 GJA1 gap junction protein alpha 1 gene DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 ISO RGD:736925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant palmoplantar keratoderma and congenital alopecia PMID:12457340|PMID:15879313|PMID:25168385|PMID:25327171|PMID:25741868|PMID:28492532|PMID:30628995 12330954 GJA1 gap junction protein alpha 1 gene DOID:0111817 syndactyly type 3 ISO RGD:736925 D RGD:7240710 20180130 OMIM 12330954 GJA1 gap junction protein alpha 1 gene DOID:0111817 syndactyly type 3 ISO RGD:736925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndactyly type 3 PMID:11470490|PMID:14729836|PMID:15192806|PMID:18079109|PMID:21215473|PMID:2157843|PMID:22090377|PMID:22179534|PMID:23103513|PMID:23304551|PMID:23465283|PMID:25741868|PMID:28492532 12330954 GJA1 gap junction protein alpha 1 gene DOID:0111819 syndactyly type 5 ISO RGD:736925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndactyly type 5 12330954 GJA1 gap junction protein alpha 1 gene DOID:10629 microphthalmia ISO RGD:736925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bilateral microphthalmos PMID:25741868 12330954 GJA1 gap junction protein alpha 1 gene DOID:10763 hypertension ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:16448880|REF_RGD_ID:7207810 12330954 GJA1 gap junction protein alpha 1 gene DOID:10763 hypertension ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16448880 12330954 GJA1 gap junction protein alpha 1 gene DOID:10763 hypertension treatment ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:23719203|REF_RGD_ID:8662439 12330954 GJA1 gap junction protein alpha 1 gene DOID:10914 amnestic disorder ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:22665389|REF_RGD_ID:7207267 12330954 GJA1 gap junction protein alpha 1 gene DOID:11193 syndactyly ISO RGD:736925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndactyly PMID:25741868|PMID:28492532 12330954 GJA1 gap junction protein alpha 1 gene DOID:11832 visual epilepsy ISO RGD:2690 D RGD:9068941 20220728 RGD PMID:14622215|REF_RGD_ID:1299355 12330954 GJA1 gap junction protein alpha 1 gene DOID:12577 urethral obstruction ISO RGD:2690 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:smooth muscle cell: PMID:11900482|REF_RGD_ID:11568666 12330954 GJA1 gap junction protein alpha 1 gene DOID:12849 autistic disorder ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18435417 12330954 GJA1 gap junction protein alpha 1 gene DOID:12858 Huntington's disease ISO RGD:736925 D RGD:9068941 20200609 RGD PMID:10873295|REF_RGD_ID:7207854 12330954 GJA1 gap junction protein alpha 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:2690 D RGD:9068941 20230420 RGD protein:decreased expression:heart (rat) PMID:26708424|REF_RGD_ID:264347602 12330954 GJA1 gap junction protein alpha 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:736925 D RGD:9068941 20200609 RGD PMID:12619876|REF_RGD_ID:1582667 12330954 GJA1 gap junction protein alpha 1 gene DOID:1591 renovascular hypertension ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:11422751|REF_RGD_ID:7207851 12330954 GJA1 gap junction protein alpha 1 gene DOID:1826 epilepsy ISO RGD:736925 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12330954 GJA1 gap junction protein alpha 1 gene DOID:1875 impotence ISO RGD:2690 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:corpus cavernosum penis PMID:17146929|REF_RGD_ID:8662385 12330954 GJA1 gap junction protein alpha 1 gene DOID:224 transient cerebral ischemia ISO RGD:2690 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:23328809|REF_RGD_ID:8662426 12330954 GJA1 gap junction protein alpha 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:10649 D RGD:9068941 20200609 RGD PMID:22812228|REF_RGD_ID:7207263 12330954 GJA1 gap junction protein alpha 1 gene DOID:2316 brain ischemia ISO RGD:2690 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:21718970|REF_RGD_ID:6480433 12330954 GJA1 gap junction protein alpha 1 gene DOID:3070 high grade glioma ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:22808518|REF_RGD_ID:7207264 12330954 GJA1 gap junction protein alpha 1 gene DOID:326 ischemia ISO RGD:2690 D RGD:9068941 20200609 RGD protein:increased expression:urothelium: PMID:24728265|REF_RGD_ID:11568671 12330954 GJA1 gap junction protein alpha 1 gene DOID:3362 coronary aneurysm ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15548583 12330954 GJA1 gap junction protein alpha 1 gene DOID:3390 palmoplantar keratosis ISO RGD:736925 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.23G>A,p.G8V(human) PMID:25168385|REF_RGD_ID:12910125 12330954 GJA1 gap junction protein alpha 1 gene DOID:5154 borna disease ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:18538309|REF_RGD_ID:7364785 12330954 GJA1 gap junction protein alpha 1 gene DOID:5844 myocardial infarction ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:22841862|REF_RGD_ID:7207262 12330954 GJA1 gap junction protein alpha 1 gene DOID:5844 myocardial infarction ISO RGD:2690 D RGD:9068941 20200609 RGD protein:decreased phosphorylation PMID:22969867|REF_RGD_ID:7207261 12330954 GJA1 gap junction protein alpha 1 gene DOID:5844 myocardial infarction treatment ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:29428663|REF_RGD_ID:13592597 12330954 GJA1 gap junction protein alpha 1 gene DOID:630 genetic disease ISO RGD:736925 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11146276|PMID:12861055|PMID:15879313|PMID:22214631|PMID:25741868|PMID:26087145|PMID:28492532|PMID:8576861|PMID:8970160 12330954 GJA1 gap junction protein alpha 1 gene DOID:6419 tetralogy of Fallot ISO RGD:736925 D RGD:9068941 20200609 RGD PMID:16010294|REF_RGD_ID:1582666 12330954 GJA1 gap junction protein alpha 1 gene DOID:6432 pulmonary hypertension ISO RGD:2690 D RGD:9068941 20200609 RGD mRNA:increased expression:pulmonary artery PMID:21414209|REF_RGD_ID:7207411 12330954 GJA1 gap junction protein alpha 1 gene DOID:6432 pulmonary hypertension treatment ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:23321332|REF_RGD_ID:8662411 12330954 GJA1 gap junction protein alpha 1 gene DOID:657 adenoma ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16926031 12330954 GJA1 gap junction protein alpha 1 gene DOID:7188 autoimmune thyroiditis ISO RGD:2690 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression, altered expression:thyroid gland: PMID:8770903|REF_RGD_ID:7349390 12330954 GJA1 gap junction protein alpha 1 gene DOID:784 chronic kidney disease ISO RGD:736925 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:32045570 12330954 GJA1 gap junction protein alpha 1 gene DOID:820 myocarditis ISO RGD:736925 D RGD:9068941 20200609 RGD PMID:12619876|REF_RGD_ID:1582667 12330954 GJA1 gap junction protein alpha 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:23403365|PMID:24183749|REF_RGD_ID:8662431|REF_RGD_ID:8662460 12330954 GJA1 gap junction protein alpha 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18003637|PMID:18077386 12330954 GJA1 gap junction protein alpha 1 gene DOID:9000064 Cardiac Arrhythmias treatment ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:23951191|REF_RGD_ID:8662422 12330954 GJA1 gap junction protein alpha 1 gene DOID:9000918 Disease Progression ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29180066 12330954 GJA1 gap junction protein alpha 1 gene DOID:9000998 Brain Injuries treatment ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:23485053|REF_RGD_ID:8662424 12330954 GJA1 gap junction protein alpha 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12330954 GJA1 gap junction protein alpha 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:19077877|REF_RGD_ID:7207423 12330954 GJA1 gap junction protein alpha 1 gene DOID:9002211 Hyperalgesia ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:23374942|REF_RGD_ID:8662456 12330954 GJA1 gap junction protein alpha 1 gene DOID:9002211 Hyperalgesia ISO RGD:736925 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:34286406 12330954 GJA1 gap junction protein alpha 1 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2690 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:24631560|REF_RGD_ID:8662447 12330954 GJA1 gap junction protein alpha 1 gene DOID:9002213 Lymphatic Abnormalities ISO RGD:10649 D RGD:9068941 20200609 RGD PMID:27899284|REF_RGD_ID:13592598 12330954 GJA1 gap junction protein alpha 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12330954 GJA1 gap junction protein alpha 1 gene DOID:9002457 Experimental Arthritis ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:23165424|REF_RGD_ID:7207259 12330954 GJA1 gap junction protein alpha 1 gene DOID:9003139 Cardiac Fibrosis ISO RGD:2690 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium PMID:23906405|REF_RGD_ID:8662459 12330954 GJA1 gap junction protein alpha 1 gene DOID:9004464 Skin Neoplasms ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7586191 12330954 GJA1 gap junction protein alpha 1 gene DOID:9004538 Hearing Loss no_association ISO RGD:736925 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:12791041|REF_RGD_ID:8662384 12330954 GJA1 gap junction protein alpha 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:23576849|REF_RGD_ID:8662452 12330954 GJA1 gap junction protein alpha 1 gene DOID:9004641 Oculodentodigital Dysplasia, Autosomal Recessive ISO RGD:736925 D RGD:7240710 20200826 OMIM 12330954 GJA1 gap junction protein alpha 1 gene DOID:9004641 Oculodentodigital Dysplasia, Autosomal Recessive ISO RGD:736925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive PMID:11146471|PMID:11470490|PMID:12457340|PMID:14729836|PMID:14974090|PMID:14981729|PMID:15192806|PMID:15879313|PMID:16531323|PMID:16813608|PMID:16816024|PMID:17509830|PMID:18003637|PMID:18079109|PMID:18946008|PMID:19057520|PMID:19338053|PMID:19615768|PMID:21215473|PMID:21670345|PMID:22090377|PMID:22179534|PMID:2309863|PMID:23103513|PMID:23304551|PMID:23465283|PMID:23606748|PMID:23951358|PMID:24115525|PMID:24508941|PMID:25327171|PMID:25388818|PMID:25398053|PMID:25741868|PMID:26537360|PMID:27226478|PMID:28492532|PMID:29927410|PMID:30628963|PMID:30628995|PMID:30631135|PMID:30653986|PMID:30811667|PMID:32318302|PMID:32449269|PMID:34630166 12330954 GJA1 gap junction protein alpha 1 gene DOID:9005172 Lung Neoplasms ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15166089|PMID:16926031 12330954 GJA1 gap junction protein alpha 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10649 D RGD:9068941 20200609 RGD protein:decreased expression:retina, blood vessel PMID:20130277|REF_RGD_ID:8662383 12330954 GJA1 gap junction protein alpha 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2690 D RGD:9068941 20200609 RGD protein:altered expression:retina: PMID:22110070|REF_RGD_ID:7364887 12330954 GJA1 gap junction protein alpha 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2690 D RGD:9068941 20200609 RGD protein:increased expression:dermis PMID:22455314|REF_RGD_ID:7207269 12330954 GJA1 gap junction protein alpha 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:20609064|REF_RGD_ID:7207415 12330954 GJA1 gap junction protein alpha 1 gene DOID:9005856 Basaran Yilmaz Syndrome ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12330954 GJA1 gap junction protein alpha 1 gene DOID:9005968 Neuralgia ISO RGD:10649 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries; PMID:22951907|REF_RGD_ID:7364890 12330954 GJA1 gap junction protein alpha 1 gene DOID:9007136 Atrioventricular Septal Defect 3 ISO RGD:736925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect 3 PMID:11470490|PMID:22090377|PMID:25741868|PMID:28492532|PMID:30653986 12330954 GJA1 gap junction protein alpha 1 gene DOID:9007292 Schwartz-Lelek Syndrome ISO RGD:736925 D RGD:9068941 20200609 RGD DNA:missense mutation: :c.716G>A (p.R239Q) (human) PMID:23951358|REF_RGD_ID:8662399 12330954 GJA1 gap junction protein alpha 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17445419 12330954 GJA1 gap junction protein alpha 1 gene DOID:9007840 Chylothorax ISO RGD:10649 D RGD:9068941 20200609 RGD PMID:27899284|REF_RGD_ID:13592598 12330954 GJA1 gap junction protein alpha 1 gene DOID:9007925 Sudden Cardiac Death treatment ISO RGD:10649 D RGD:9068941 20200609 RGD PMID:22093512|REF_RGD_ID:12910124 12330954 GJA1 gap junction protein alpha 1 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:736925 D RGD:9068941 20200609 RGD DNA:mutations:cds:c.30C>T,c.71T>G(human) PMID:11741837|REF_RGD_ID:1578475 12330954 GJA1 gap junction protein alpha 1 gene DOID:9008212 Diabetic Foot ISO RGD:736925 D RGD:9068941 20200609 RGD protein:increased expression:dermis PMID:22455314|REF_RGD_ID:7207269 12330954 GJA1 gap junction protein alpha 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29180066 12330954 GJA1 gap junction protein alpha 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16292552|PMID:16720372 12330954 GJA1 gap junction protein alpha 1 gene DOID:9009087 Hypoplastic Left Heart Syndrome 1 ISO RGD:736925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome 1 PMID:11470490|PMID:15192806|PMID:18079109|PMID:21215473|PMID:22090377|PMID:22179534|PMID:23103513|PMID:23304551|PMID:23465283|PMID:25741868|PMID:28492532 12330954 GJA1 gap junction protein alpha 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2690 D RGD:9068941 20200609 RGD protein:increased phosphorylation:kidney PMID:21573906|REF_RGD_ID:7207393 12330954 GJA1 gap junction protein alpha 1 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12330954 GJA1 gap junction protein alpha 1 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:736925 D RGD:9068941 20200609 RGD PMID:11470490|REF_RGD_ID:1582668 12330959 AR androgen receptor gene DOID:0050856 oppositional defiant disorder ISO RGD:735652 D RGD:9068941 20200609 RGD associated with Tourette Syndrome;DNA:repeats, haplotypes PMID:10380986|REF_RGD_ID:6907129 12330959 AR androgen receptor gene DOID:0060074 ductal carcinoma in situ ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:17543076|REF_RGD_ID:1643341 12330959 AR androgen receptor gene DOID:0060161 Kennedy's disease ISO RGD:735652 D RGD:7240710 20180130 OMIM 12330959 AR androgen receptor gene DOID:0060161 Kennedy's disease ISO RGD:735652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bulbospinal neuronopathy X-linked recessive | ClinVar Annotator: match by term: Kennedy disease PMID:16804045|PMID:25741868|PMID:28492532 12330959 AR androgen receptor gene DOID:0060161 Kennedy's disease treatment ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:26942099|REF_RGD_ID:11576229 12330959 AR androgen receptor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12330959 AR androgen receptor gene DOID:0070168 spermatogenic failure 3 ISO RGD:735652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:28492532 12330959 AR androgen receptor gene DOID:0080776 partial androgen insensitivity syndrome ISO RGD:735652 D RGD:7240710 20200916 OMIM 12330959 AR androgen receptor gene DOID:0080776 partial androgen insensitivity syndrome ISO RGD:735652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Androgen insensitivity, partial, with breast cancer | ClinVar Annotator: match by term: Partial androgen insensitivity syndrome PMID:10221692|PMID:10485299|PMID:10543676|PMID:10999818|PMID:11788616|PMID:11788673|PMID:1303262|PMID:1430233|PMID:15001585|PMID:15109605|PMID:15925895|PMID:1598912|PMID:16083860|PMID:16450583|PMID:16804045|PMID:20011049|PMID:2010552|PMID:23808476|PMID:24321103|PMID:24737579|PMID:25241384|PMID:25326637|PMID:25741868|PMID:26778393|PMID:27267075|PMID:27854360|PMID:28186600|PMID:28261839|PMID:28492532|PMID:28624954|PMID:2918059|PMID:30668521|PMID:32985417|PMID:33750429|PMID:7581399|PMID:8040309|PMID:8096390|PMID:8097257|PMID:8281139|PMID:8325932|PMID:8446106|PMID:8823308|PMID:8824883|PMID:9345099|PMID:9543136|PMID:9768671|PMID:9851768 12330959 AR androgen receptor gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18985049|PMID:24740322|PMID:28500234|PMID:28757136 12330959 AR androgen receptor gene DOID:0090122 aromatase excess syndrome ISO RGD:735652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gynecomastia, familial PMID:16804045|PMID:28492532 12330959 AR androgen receptor gene DOID:0111152 multicentric Castleman disease ISO RGD:735652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TAFRO syndrome PMID:16804045|PMID:28492532 12330959 AR androgen receptor gene DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome ISO RGD:735652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aplasia of the uterus PMID:25741868 12330959 AR androgen receptor gene DOID:10283 prostate cancer ISO RGD:735652 D RGD:7240710 20180418 OMIM 12330959 AR androgen receptor gene DOID:10283 prostate cancer ISO RGD:735652 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:10589774|PMID:11103816|PMID:1631125|PMID:1779964|PMID:25741868|PMID:28492532|PMID:7795646|PMID:8530589|PMID:8824883|PMID:9851768 12330959 AR androgen receptor gene DOID:10283 prostate cancer no_association ISO RGD:735652 D RGD:9068941 20200609 RGD african-american men PMID:15479493|REF_RGD_ID:1578686 12330959 AR androgen receptor gene DOID:10283 prostate cancer treatment ISO RGD:2147 D RGD:9068941 20200609 RGD PMID:17049844|REF_RGD_ID:10043311 12330959 AR androgen receptor gene DOID:10283 prostate cancer treatment ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:17049844|REF_RGD_ID:10043311 12330959 AR androgen receptor gene DOID:10763 hypertension ISO RGD:2147 D RGD:9068941 20200609 RGD PMID:15746697|REF_RGD_ID:1601245 12330959 AR androgen receptor gene DOID:10763 hypertension ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10523385 12330959 AR androgen receptor gene DOID:10763 hypertension treatment ISO RGD:2147 D RGD:9068941 20200609 RGD PMID:12397037|REF_RGD_ID:10043316 12330959 AR androgen receptor gene DOID:10892 hypospadias ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:15472213|REF_RGD_ID:1578685 12330959 AR androgen receptor gene DOID:10892 hypospadias ISO RGD:735652 D RGD:9068941 20200609 RGD mRNA:decreased expression:mucosa of urethra PMID:23386417|REF_RGD_ID:11576230 12330959 AR androgen receptor gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:735652 D RGD:9068941 20200609 RGD associated with Tourette Syndrome;DNA:repeats, haplotypes PMID:10380986|REF_RGD_ID:6907129 12330959 AR androgen receptor gene DOID:11132 prostatic hypertrophy treatment ISO RGD:2147 D RGD:9068941 20200609 RGD PMID:22430536|PMID:24872436|REF_RGD_ID:10043335|REF_RGD_ID:10045676 12330959 AR androgen receptor gene DOID:11383 cryptorchidism ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:15472213|REF_RGD_ID:1578685 12330959 AR androgen receptor gene DOID:11383 cryptorchidism ISO RGD:735652 D RGD:9068941 20200609 RGD DNA:repeats:exon PMID:15757859|REF_RGD_ID:11576231 12330959 AR androgen receptor gene DOID:11476 osteoporosis treatment ISO RGD:10187 D RGD:9068941 20200609 RGD PMID:18847323|REF_RGD_ID:10043198 12330959 AR androgen receptor gene DOID:11476 osteoporosis treatment ISO RGD:2147 D RGD:9068941 20200609 RGD PMID:14600402|REF_RGD_ID:10043196 12330959 AR androgen receptor gene DOID:11612 polycystic ovary syndrome no_association ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:15950642|REF_RGD_ID:1578688 12330959 AR androgen receptor gene DOID:11714 gestational diabetes ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20421132 12330959 AR androgen receptor gene DOID:12336 male infertility ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12220434|PMID:18554162|PMID:20164437 12330959 AR androgen receptor gene DOID:12377 spinal muscular atrophy ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:10400640|REF_RGD_ID:1578680 12330959 AR androgen receptor gene DOID:1240 leukemia ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19235587 12330959 AR androgen receptor gene DOID:127 leiomyoma ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:15704521|REF_RGD_ID:1578690 12330959 AR androgen receptor gene DOID:12849 autistic disorder ISO RGD:735652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12330959 AR androgen receptor gene DOID:12995 conduct disorder ISO RGD:735652 D RGD:9068941 20200609 RGD associated with Tourette Syndrome;DNA:repeats, haplotypes PMID:10380986|REF_RGD_ID:6907129 12330959 AR androgen receptor gene DOID:1380 endometrial cancer ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:15721279|REF_RGD_ID:1578689 12330959 AR androgen receptor gene DOID:14448 46,XY sex reversal ISO RGD:735652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY PMID:11549642|PMID:25741868|PMID:27899157 12330959 AR androgen receptor gene DOID:14499 Fabry disease treatment ISO RGD:10187 D RGD:9068941 20200609 RGD PMID:25701874|REF_RGD_ID:11576234 12330959 AR androgen receptor gene DOID:2394 ovarian cancer ISO RGD:735652 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 12330959 AR androgen receptor gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:2147 D RGD:9068941 20200609 RGD PMID:18439064|REF_RGD_ID:10043341 12330959 AR androgen receptor gene DOID:289 endometriosis no_association ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:15120698|REF_RGD_ID:1578684 12330959 AR androgen receptor gene DOID:3008 invasive ductal carcinoma severity ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:16075292|REF_RGD_ID:1643344 12330959 AR androgen receptor gene DOID:3021 acute kidney failure ISO RGD:2147 D RGD:9068941 20200609 RGD PMID:24503548|REF_RGD_ID:11570523 12330959 AR androgen receptor gene DOID:3069 malignant astrocytoma ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24680642 12330959 AR androgen receptor gene DOID:3764 Denys-Drash syndrome ISO RGD:10187 D RGD:9068941 20200609 RGD protein:decreased expression:sertoli cell PMID:16245160|REF_RGD_ID:1643343 12330959 AR androgen receptor gene DOID:4674 androgen insensitivity syndrome ISO RGD:735652 D RGD:7240710 20180130 OMIM 12330959 AR androgen receptor gene DOID:4674 androgen insensitivity syndrome ISO RGD:735652 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Androgen resistance syndrome | ClinVar Annotator: match by term: Dihydrotestosterone receptor deficiency PMID:10022458|PMID:10092153|PMID:10221692|PMID:10221770|PMID:10323251|PMID:10323385|PMID:10359561|PMID:10425033|PMID:10458483|PMID:10571951|PMID:10690872|PMID:10834333|PMID:10840043|PMID:11181525|PMID:11225909|PMID:11376111|PMID:11397856|PMID:11549642|PMID:11579211|PMID:1158706|PMID:11744994|PMID:11788616|PMID:11788645|PMID:11788673|PMID:11889162|PMID:12068007|PMID:12213902|PMID:12466388|PMID:12644579|PMID:12705360|PMID:12843171|PMID:1303262|PMID:1307250|PMID:1430233|PMID:1458719|PMID:14701682|PMID:1480178|PMID:14974091|PMID:1508223|PMID:15109605|PMID:15266301|PMID:15531547|PMID:15541764|PMID:1569163|PMID:15925895|PMID:15963062|PMID:1598912|PMID:16083860|PMID:1609793|PMID:16199547|PMID:16283146|PMID:16365032|PMID:16373394|PMID:16450583|PMID:16470553|PMID:16804045|PMID:17161333|PMID:1720929|PMID:17382127|PMID:1750490|PMID:17576681|PMID:1775137|PMID:17937062|PMID:17970778|PMID:18406699|PMID:18710728|PMID:19463997|PMID:20007693|PMID:20011049|PMID:20056211|PMID:20150575|PMID:20305676|PMID:20493947|PMID:20671138|PMID:2082179|PMID:21520333|PMID:21710452|PMID:21962961|PMID:22334387|PMID:22412043|PMID:22799610|PMID:2293020|PMID:22995991|PMID:23106833|PMID:2332504|PMID:2339702|PMID:23637914|PMID:23774508|PMID:24033266|PMID:24186138|PMID:24321103|PMID:24737579|PMID:24790346|PMID:25241384|PMID:25248670|PMID:25326637|PMID:25433660|PMID:25613104|PMID:25640679|PMID:25674389|PMID:25741868|PMID:2594783|PMID:26303084|PMID:26688387|PMID:26778393|PMID:26806084|PMID:26813233|PMID:26980296|PMID:27051040|PMID:27267075|PMID:27284311|PMID:27403927|PMID:27583472|PMID:27849622|PMID:27854360|PMID:27899157|PMID:27989800|PMID:28186600|PMID:28261839|PMID:28456808|PMID:28492532|PMID:28611373|PMID:28624954|PMID:28659371|PMID:28743543|PMID:28857053|PMID:28947719|PMID:29051026|PMID:29758562|PMID:29785970|PMID:30064134|PMID:30113450|PMID:30165367|PMID:30316867|PMID:30401990|PMID:30599484|PMID:30668521|PMID:30815925|PMID:31012339|PMID:31373714|PMID:31429517|PMID:31499074|PMID:3174628|PMID:3186717|PMID:3216866|PMID:32229106|PMID:32345305|PMID:32985417|PMID:33505695|PMID:33514065|PMID:33750429|PMID:33819955|PMID:34276780|PMID:35561789|PMID:4061484|PMID:7537149|PMID:7581399|PMID:7626493|PMID:7633398|PMID:7641413|PMID:7671849|PMID:7723794|PMID:7910529|PMID:7970939|PMID:7981687|PMID:8033918|PMID:8040309|PMID:8096390|PMID:8097257|PMID:8126121|PMID:8162033|PMID:8325932|PMID:8413310|PMID:8450040|PMID:8450042|PMID:8626869|PMID:8647313|PMID:8723113|PMID:8809734|PMID:8824883|PMID:8990010|PMID:9007482|PMID:9039340|PMID:9196614|PMID:9302173|PMID:9328206|PMID:9332480|PMID:9360511|PMID:9463997|PMID:9536098|PMID:9543136|PMID:9544375|PMID:9554754|PMID:9576916|PMID:9627582|PMID:9698822|PMID:9768671|PMID:9788719|PMID:9851768|PMID:9856504 12330959 AR androgen receptor gene DOID:48 male reproductive system disease ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25434310 12330959 AR androgen receptor gene DOID:630 genetic disease ISO RGD:735652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10359561|PMID:28261839|PMID:28492532 12330959 AR androgen receptor gene DOID:684 hepatocellular carcinoma ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18639551 12330959 AR androgen receptor gene DOID:8634 prostate carcinoma in situ ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601956 12330959 AR androgen receptor gene DOID:9000357 Male Breast Neoplasms ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1303262|PMID:8281139 12330959 AR androgen receptor gene DOID:9000357 Male Breast Neoplasms disease_progression ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:14555518|REF_RGD_ID:1643345 12330959 AR androgen receptor gene DOID:9000466 Prostate Cancer, Somatic ISO RGD:735652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer, somatic PMID:1631125|PMID:1779964|PMID:28492532|PMID:6541981|PMID:7723794|PMID:7795646|PMID:8187068 12330959 AR androgen receptor gene DOID:9000779 Hypospadias 1, X-Linked ISO RGD:735652 D RGD:7240710 20180130 OMIM 12330959 AR androgen receptor gene DOID:9000779 Hypospadias 1, X-Linked ISO RGD:735652 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hypospadias 1, X-linked PMID:20305676|PMID:25326637|PMID:25741868|PMID:28261839|PMID:28492532|PMID:29758562|PMID:7981687|PMID:8033918|PMID:8097257|PMID:8683794|PMID:8723113|PMID:9332480 12330959 AR androgen receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11742035|PMID:12237244|PMID:15389811|PMID:15790600|PMID:16266977|PMID:16877366|PMID:16934689|PMID:16998812|PMID:17003774|PMID:17141945|PMID:18829485|PMID:19011039|PMID:20729295|PMID:22610119|PMID:22666205|PMID:23704919|PMID:25062956|PMID:25735316|PMID:25908785|PMID:25970160|PMID:29610475 12330959 AR androgen receptor gene DOID:9002304 Prostatic Neoplasms onset ISO RGD:10187 D RGD:9068941 20200609 RGD PMID:17906287|REF_RGD_ID:2293867 12330959 AR androgen receptor gene DOID:9002331 Knee Osteoarthritis ISO RGD:735652 D RGD:9068941 20200609 RGD DNA:repeat:exon:c.172(CAG)8-34 (human) PMID:16098017|REF_RGD_ID:10043199 12330959 AR androgen receptor gene DOID:9003315 Lubs Syndrome ISO RGD:735652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type I familial incomplete male pseudohermaphroditism PMID:16804045|PMID:28492532 12330959 AR androgen receptor gene DOID:9003555 Androgen Insensitivity Syndrome due to Coactivator Deficiency ISO RGD:735652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Androgen insensitivity syndrome due to coactivator deficiency PMID:16804045|PMID:28492532 12330959 AR androgen receptor gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:12593895|REF_RGD_ID:1578682 12330959 AR androgen receptor gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11742035 12330959 AR androgen receptor gene DOID:9005172 Lung Neoplasms ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30008631 12330959 AR androgen receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2147 D RGD:9068941 20200609 RGD PMID:12150826|REF_RGD_ID:6482679 12330959 AR androgen receptor gene DOID:9005539 Familial Prostate Cancer ISO RGD:735652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer susceptibility PMID:10589774|PMID:11103816|PMID:8530589 12330959 AR androgen receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10187 D RGD:9068941 20200609 RGD protein:decreased expression:pancreatic B cell PMID:18543106|REF_RGD_ID:2306772 12330959 AR androgen receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2147 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:epididymis, prostate gland, testis PMID:16398356|REF_RGD_ID:2306774 12330959 AR androgen receptor gene DOID:9007181 Osteoporotic Fractures susceptibility ISO RGD:735652 D RGD:9068941 20200609 RGD DNA:repeat:exon:g.6287(CAG)7-34 (human) PMID:14667136|REF_RGD_ID:10043197 12330959 AR androgen receptor gene DOID:9007456 Female Infertility ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23710174 12330959 AR androgen receptor gene DOID:9007692 Insulin Resistance ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21444647 12330959 AR androgen receptor gene DOID:9007692 Insulin Resistance ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:17332526|REF_RGD_ID:1601244 12330959 AR androgen receptor gene DOID:9007692 Insulin Resistance ISO RGD:735652 D RGD:9068941 20200609 RGD associated with Polycystic Ovary Syndrome;DNA:repeat: :CAG PMID:16793958|REF_RGD_ID:2306773 12330959 AR androgen receptor gene DOID:9008824 Sarcopenia treatment ISO RGD:10187 D RGD:9068941 20200609 RGD PMID:24177288|REF_RGD_ID:10043306 12330959 AR androgen receptor gene DOID:9008824 Sarcopenia treatment ISO RGD:2147 D RGD:9068941 20200609 RGD PMID:17049844|REF_RGD_ID:10043311 12330959 AR androgen receptor gene DOID:9008939 Breast Neoplasms ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21633166|PMID:22174584 12330959 AR androgen receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:10187 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 12330959 AR androgen receptor gene DOID:987 alopecia ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15902657 12330959 AR androgen receptor gene DOID:9970 obesity ISO RGD:10187 D RGD:9068941 20220825 MouseDO OMIM:601665 12330959 AR androgen receptor gene DOID:9970 obesity susceptibility ISO RGD:735652 D RGD:9068941 20200609 RGD DNA:repeats: :GGN, CAG PMID:12532157|REF_RGD_ID:1601246 12330959 AR androgen receptor gene DOID:9970 obesity susceptibility ISO RGD:735652 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:repeat: :CAG PMID:18805913|REF_RGD_ID:2306771 12330978 RAB1A RAB1A, member RAS oncogene family gene DOID:12930 dilated cardiomyopathy ISO RGD:731304 D RGD:9068941 20220825 MouseDO 12330978 RAB1A RAB1A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1350604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12330988 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1319072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12330988 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1319073 D RGD:9068941 20220825 MouseDO OMIM:601457 12330988 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:0111961 immunodeficiency 26 ISO RGD:1319072 D RGD:7240710 20180130 OMIM 12330988 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:0111961 immunodeficiency 26 ISO RGD:1319072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency PMID:16199547|PMID:17576681|PMID:19075392|PMID:23722905|PMID:25640679|PMID:25741868|PMID:25842288|PMID:26122175|PMID:28492532|PMID:29987844|PMID:30121298|PMID:30778343|PMID:9536098 12330988 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:10907 microcephaly ISO RGD:1319072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12330988 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:13413 hepatic encephalopathy ISO RGD:1319072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224054 12330988 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:1612 breast cancer ISO RGD:1319072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:28492532 12330988 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:1749 squamous cell carcinoma ISO RGD:1319072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25125259 12330988 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:627 severe combined immunodeficiency IAGP D RGD:12801476 20210603 OMIA Severe combined immunodeficiency disease, autosomal PMID:11867233|PMID:12033674|PMID:19635917|PMID:11489998 12330988 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:630 genetic disease ISO RGD:1319072 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12330988 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:850 lung disease ISO RGD:1319072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17200189 12330988 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:9000046 Poisoning ISO RGD:1319072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20036648 12330988 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17196815|PMID:25415046 12330988 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:1308982 D RGD:9068941 20220121 RGD PMID:30485360|REF_RGD_ID:39938998 12330988 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:9004707 Massive Hepatic Necrosis ISO RGD:1319072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224054 12330988 PRKDC protein kinase, DNA-activated, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1319072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224054 12331093 AZIN1 antizyme inhibitor 1 gene DOID:0111590 Cohen syndrome ISO RGD:731863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12331093 AZIN1 antizyme inhibitor 1 gene DOID:11339 pneumocystosis ISO RGD:61934 D RGD:9068941 20200609 RGD mRNA:increased expression:alveolar macrophage PMID:19158080|REF_RGD_ID:14700806 12331093 AZIN1 antizyme inhibitor 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:731863 D RGD:9068941 20200609 RGD PMID:24302582|REF_RGD_ID:14700707 12331093 AZIN1 antizyme inhibitor 1 gene DOID:5082 liver cirrhosis ISO RGD:731863 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA SNP: :rs2679757 (human) PMID:21586232|REF_RGD_ID:14700702 12331093 AZIN1 antizyme inhibitor 1 gene DOID:5082 liver cirrhosis ISO RGD:731863 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma;RNA:increased editing:liver PMID:23291631|REF_RGD_ID:14700705 12331093 AZIN1 antizyme inhibitor 1 gene DOID:630 genetic disease ISO RGD:731863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12331093 AZIN1 antizyme inhibitor 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731863 D RGD:9068941 20200609 RGD RNA:increased editing:liver PMID:23291631|REF_RGD_ID:14700705 12331093 AZIN1 antizyme inhibitor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731863 D RGD:9068941 20200609 RGD associated with colorectal cancer;RNA:increased editing:colorectum PMID:29925690|REF_RGD_ID:14700704 12331093 AZIN1 antizyme inhibitor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731863 D RGD:9068941 20200609 RGD associated with stomach cancer;RNA:increased editing:stomach PMID:30563560|REF_RGD_ID:14700703 12331093 AZIN1 antizyme inhibitor 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:61934 D RGD:9068941 20200609 RGD PMID:26751697|REF_RGD_ID:14700801 12331119 INSL6 insulin like 6 gene DOID:0060652 familial erythrocytosis 1 ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12331119 INSL6 insulin like 6 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:737125 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12331119 INSL6 insulin like 6 gene DOID:0070004 myeloid neoplasm ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myeloproliferative disorder PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17267906|PMID:17989398|PMID:18256599|PMID:18394554|PMID:18805579|PMID:19036091|PMID:19287384|PMID:19293426|PMID:19470474|PMID:20339092|PMID:20585391|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22368270|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:22955920|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12331119 INSL6 insulin like 6 gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12331119 INSL6 insulin like 6 gene DOID:11512 Budd-Chiari syndrome ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Budd-Chiari syndrome PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12331119 INSL6 insulin like 6 gene DOID:3948 adrenocortical carcinoma ISO RGD:737125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 12331119 INSL6 insulin like 6 gene DOID:4971 myelofibrosis ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelofibrosis, somatic PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12331119 INSL6 insulin like 6 gene DOID:5426 primary ovarian insufficiency ISO RGD:737125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary Ovarian Insufficiency PMID:25741868 12331119 INSL6 insulin like 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12331119 INSL6 insulin like 6 gene DOID:630 genetic disease ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12331119 INSL6 insulin like 6 gene DOID:8432 polycythemia ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12331119 INSL6 insulin like 6 gene DOID:8552 chronic myeloid leukemia ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12331119 INSL6 insulin like 6 gene DOID:8997 polycythemia vera ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polycythemia rubra vera PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12331119 INSL6 insulin like 6 gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:737125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features PMID:18805579|PMID:19470474|PMID:20585391|PMID:22368270|PMID:22955920 12331119 INSL6 insulin like 6 gene DOID:9002720 Splenomegaly ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enlarged Spleen PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12331119 INSL6 insulin like 6 gene DOID:9004276 Thrombocythemia 3 ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: THROMBOCYTOSIS 3 | ClinVar Annotator: match by term: Thrombocythemia 3 PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:30811597|PMID:32581362 12331119 INSL6 insulin like 6 gene DOID:9006101 Primary Ovarian Failure ISO RGD:737125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ovarian failure PMID:25741868 12331119 INSL6 insulin like 6 gene DOID:9119 acute myeloid leukemia ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 12331133 RBM5 RNA binding motif protein 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12331133 RBM5 RNA binding motif protein 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12331133 RBM5 RNA binding motif protein 5 gene DOID:630 genetic disease ISO RGD:1312863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12331133 RBM5 RNA binding motif protein 5 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1312863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12331133 RBM5 RNA binding motif protein 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1312863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12331162 ITGB7 integrin subunit beta 7 gene DOID:630 genetic disease ISO RGD:1343409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12331182 MIX23 mitochondrial matrix import factor 23 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1604240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12331182 MIX23 mitochondrial matrix import factor 23 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12331182 MIX23 mitochondrial matrix import factor 23 gene DOID:9270 alkaptonuria ISO RGD:1604240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12331195 TM2D3 TM2 domain containing 3 gene DOID:630 genetic disease ISO RGD:1602099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12331195 TM2D3 TM2 domain containing 3 gene DOID:9255 frontotemporal dementia ISO RGD:1602099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868 12331206 RCOR3 REST corepressor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1350848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12331206 RCOR3 REST corepressor 3 gene DOID:630 genetic disease ISO RGD:1350848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12331206 RCOR3 REST corepressor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12331233 TPGS2 tubulin polyglutamylase complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:1321554 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12331233 TPGS2 tubulin polyglutamylase complex subunit 2 gene DOID:630 genetic disease ISO RGD:1321554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12331257 KIF12 kinesin family member 12 gene DOID:10283 prostate cancer ISO RGD:1318282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12331257 KIF12 kinesin family member 12 gene DOID:630 genetic disease ISO RGD:1318282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12331257 KIF12 kinesin family member 12 gene DOID:9002626 Progressive Familial Intrahepatic Cholestasis 8 ISO RGD:1318282 D RGD:7240710 20211222 OMIM 12331257 KIF12 kinesin family member 12 gene DOID:9002626 Progressive Familial Intrahepatic Cholestasis 8 ISO RGD:1318282 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 8 PMID:25741868|PMID:30250217|PMID:30976738|PMID:34555379 12331297 BPGM bisphosphoglycerate mutase gene DOID:0111630 familial erythrocytosis 8 ISO RGD:1605438 D RGD:7240710 20180130 OMIM 12331297 BPGM bisphosphoglycerate mutase gene DOID:0111630 familial erythrocytosis 8 ISO RGD:1605438 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diphosphoglycerate mutase deficiency of erythrocyte PMID:1421379|PMID:15054810|PMID:152321|PMID:25015942|PMID:2542247|PMID:25741868 12331297 BPGM bisphosphoglycerate mutase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12331297 BPGM bisphosphoglycerate mutase gene DOID:630 genetic disease ISO RGD:1605438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12331308 AGK acylglycerol kinase gene DOID:0080132 Sengers syndrome ISO RGD:1352363 D RGD:7240710 20180130 OMIM 12331308 AGK acylglycerol kinase gene DOID:0080132 Sengers syndrome ISO RGD:1352363 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sengers syndrome PMID:15168109|PMID:16199547|PMID:17576681|PMID:22277967|PMID:22284826|PMID:22415731|PMID:23266196|PMID:24088041|PMID:25208612|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26582918|PMID:26633545|PMID:28492532|PMID:28868593|PMID:31303091|PMID:34948281|PMID:3560758|PMID:9536098 12331308 AGK acylglycerol kinase gene DOID:0080690 RASopathy ISO RGD:1352363 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12331308 AGK acylglycerol kinase gene DOID:0110245 cataract 38 ISO RGD:1352363 D RGD:7240710 20180130 OMIM 12331308 AGK acylglycerol kinase gene DOID:0110245 cataract 38 ISO RGD:1352363 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: AGK-Related Disorders | ClinVar Annotator: match by term: Cataract 38 PMID:17576681|PMID:22415731|PMID:24088041|PMID:25741868|PMID:26582918|PMID:26633545|PMID:28492532|PMID:9536098 12331308 AGK acylglycerol kinase gene DOID:0111415 trichohepatoenteric syndrome 1 ISO RGD:1352363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 PMID:22284826|PMID:23266196|PMID:24088041|PMID:25208612|PMID:25326635|PMID:25741868|PMID:26633545|PMID:28492532|PMID:28868593 12331308 AGK acylglycerol kinase gene DOID:630 genetic disease ISO RGD:1352363 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22415731|PMID:24088041|PMID:25326637|PMID:25741868|PMID:26582918|PMID:26633545|PMID:28492532 12331308 AGK acylglycerol kinase gene DOID:83 cataract ISO RGD:1352363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract 12331331 RCOR2 REST corepressor 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1353932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12331331 RCOR2 REST corepressor 2 gene DOID:1059 intellectual disability ISO RGD:1353932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12331331 RCOR2 REST corepressor 2 gene DOID:3070 high grade glioma ISO RGD:1353932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12331331 RCOR2 REST corepressor 2 gene DOID:630 genetic disease ISO RGD:1353932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12331349 YIPF2 Yip1 domain family member 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1604600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12331349 YIPF2 Yip1 domain family member 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1604600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12331349 YIPF2 Yip1 domain family member 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1604600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12331349 YIPF2 Yip1 domain family member 2 gene DOID:13810 familial hypercholesterolemia ISO RGD:1604600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:28492532 12331349 YIPF2 Yip1 domain family member 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1604600 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12331349 YIPF2 Yip1 domain family member 2 gene DOID:630 genetic disease ISO RGD:1604600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12331368 SLC22A13 solute carrier family 22 member 13 gene DOID:0050451 Brugada syndrome ISO RGD:1315683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 12331368 SLC22A13 solute carrier family 22 member 13 gene DOID:630 genetic disease ISO RGD:1315683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12331368 SLC22A13 solute carrier family 22 member 13 gene DOID:9001436 Immunodeficiency 68 ISO RGD:1315683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532 12331368 SLC22A13 solute carrier family 22 member 13 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1315683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 12331382 KRT79 keratin 79 gene DOID:630 genetic disease ISO RGD:1602275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12331394 KRT81 keratin 81 gene DOID:0060256 Dowling-Degos disease ISO RGD:1343872 D RGD:9068941 20221013 CTD CTD Direct Evidence: marker/mechanism 12331394 KRT81 keratin 81 gene DOID:0060735 epidermolysis bullosa simplex Dowling-Meara type ISO RGD:1553117 D RGD:9068941 20220825 MouseDO OMIM:131760 12331394 KRT81 keratin 81 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1343872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12331394 KRT81 keratin 81 gene DOID:0080511 epidermolysis bullosa simplex generalized type ISO RGD:1343872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type PMID:20199538|PMID:25741868|PMID:7520042|PMID:8807337 12331394 KRT81 keratin 81 gene DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation ISO RGD:1343872 D RGD:7240710 20180130 OMIM 12331394 KRT81 keratin 81 gene DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation ISO RGD:1343872 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with mottled pigmentation PMID:1049409|PMID:10494094|PMID:11167681|PMID:12925204|PMID:15324323|PMID:15647384|PMID:15982306|PMID:16098032|PMID:16601668|PMID:16882168|PMID:20030639|PMID:20055872|PMID:20108434|PMID:20301543|PMID:20923750|PMID:23889190|PMID:24104543|PMID:2476664|PMID:25741868|PMID:26743602|PMID:27730678|PMID:28492532|PMID:28561874|PMID:31001817|PMID:421361|PMID:6457621|PMID:8799157|PMID:9036937|PMID:9129237 12331394 KRT81 keratin 81 gene DOID:11054 urinary bladder cancer ISO RGD:727894 D RGD:9068941 20210312 RGD PMID:7507402|REF_RGD_ID:1600196 12331394 KRT81 keratin 81 gene DOID:2513 basal cell carcinoma ISO RGD:1343872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578363|PMID:20871598 12331394 KRT81 keratin 81 gene DOID:2730 epidermolysis bullosa ISO RGD:1343872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa PMID:25741868 12331394 KRT81 keratin 81 gene DOID:305 carcinoma ISO RGD:1343872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12331394 KRT81 keratin 81 gene DOID:4644 epidermolysis bullosa simplex ISO RGD:1343872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex PMID:1049409|PMID:10494094|PMID:11167681|PMID:11407988|PMID:11973334|PMID:12925204|PMID:15324323|PMID:15647384|PMID:15982306|PMID:16098032|PMID:16465624|PMID:16601668|PMID:16882168|PMID:17034543|PMID:17039244|PMID:1718160|PMID:17855059|PMID:18384561|PMID:20030639|PMID:20055872|PMID:20108434|PMID:20199538|PMID:20301543|PMID:20923750|PMID:21144712|PMID:21375516|PMID:21623745|PMID:23889190|PMID:24104543|PMID:2476664|PMID:25741868|PMID:26432462|PMID:26707537|PMID:26743602|PMID:27730678|PMID:28425111|PMID:28492532|PMID:28561874|PMID:31302245|PMID:31312705|PMID:421361|PMID:6457621|PMID:7682695|PMID:7686424|PMID:8595431|PMID:8799157|PMID:8807337|PMID:9036937|PMID:9129237 12331394 KRT81 keratin 81 gene DOID:4644 epidermolysis bullosa simplex susceptibility ISO RGD:1343872 D RGD:9068941 20200609 RGD DNA:mutation PMID:1372711|REF_RGD_ID:1600195 12331394 KRT81 keratin 81 gene DOID:630 genetic disease ISO RGD:1343872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12331394 KRT81 keratin 81 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1343872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12331394 KRT81 keratin 81 gene DOID:9000523 Generalized Epidermolysis Bullosa Simplex 1B ISO RGD:1343872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type PMID:20199538|PMID:25741868|PMID:7520042|PMID:8807337 12331394 KRT81 keratin 81 gene DOID:9000621 Generalized Epidermolysis Bullosa Simplex 2D ISO RGD:1343872 D RGD:7240710 20211110 OMIM 12331394 KRT81 keratin 81 gene DOID:9000621 Generalized Epidermolysis Bullosa Simplex 2D ISO RGD:1343872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE PMID:16465624|PMID:20199538|PMID:25741868|PMID:31312705 12331394 KRT81 keratin 81 gene DOID:9002226 Localized Epidermolysis Bullosa Simplex 2C ISO RGD:1343872 D RGD:7240710 20211110 OMIM 12331394 KRT81 keratin 81 gene DOID:9002226 Localized Epidermolysis Bullosa Simplex 2C ISO RGD:1343872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, localized | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, localized, modifier of PMID:16098032|PMID:18384561|PMID:21144712|PMID:25741868|PMID:28425111|PMID:28492532|PMID:31302245|PMID:7520042|PMID:7537780|PMID:7688477|PMID:8807337 12331394 KRT81 keratin 81 gene DOID:9002302 Generalized Severe Epidermolysis Bullosa Simplex 1A ISO RGD:1343872 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe PMID:10730767|PMID:16098032|PMID:16601668|PMID:16882168|PMID:20030639|PMID:20301543|PMID:25741868|PMID:26743602|PMID:28561874|PMID:9036937 12331394 KRT81 keratin 81 gene DOID:9002684 Localized Epidermolysis Bullosa Simplex 1C ISO RGD:1343872 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized PMID:16098032|PMID:16601668|PMID:16882168|PMID:20030639|PMID:20199538|PMID:20301543|PMID:22005030|PMID:25741868|PMID:26743602|PMID:28492532|PMID:28561874|PMID:7537780|PMID:7688477|PMID:9036937 12331394 KRT81 keratin 81 gene DOID:9002815 Generalized Severe Epidermolysis Bullosa Simplex 2A ISO RGD:1343872 D RGD:7240710 20211110 OMIM 12331394 KRT81 keratin 81 gene DOID:9002815 Generalized Severe Epidermolysis Bullosa Simplex 2A ISO RGD:1343872 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2A, generalized severe PMID:10234505|PMID:10383750|PMID:1372711|PMID:16098032|PMID:16601668|PMID:16882168|PMID:20030639|PMID:20301543|PMID:25741868|PMID:26743602|PMID:28561874|PMID:8757772|PMID:9036937 12331394 KRT81 keratin 81 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1343872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12331394 KRT81 keratin 81 gene DOID:9004270 Generalized Epidermolysis Bullosa Simplex 2B ISO RGD:1343872 D RGD:7240710 20211110 OMIM 12331394 KRT81 keratin 81 gene DOID:9004270 Generalized Epidermolysis Bullosa Simplex 2B ISO RGD:1343872 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2B, generalized intermediate PMID:11407988|PMID:11407989|PMID:16882168|PMID:17039244|PMID:1718160|PMID:25741868|PMID:28492532|PMID:34680898|PMID:7534039|PMID:7686424|PMID:9740251 12331394 KRT81 keratin 81 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1343872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12331394 KRT81 keratin 81 gene DOID:9006734 Dowling-Degos Disease 1 ISO RGD:1343872 D RGD:7240710 20221005 OMIM 12331394 KRT81 keratin 81 gene DOID:9006734 Dowling-Degos Disease 1 ISO RGD:1343872 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: Dowling-Degos disease 1 PMID:14674915|PMID:16465624|PMID:20222933|PMID:25741868|PMID:3188604 12331394 KRT81 keratin 81 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1343872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 12331394 KRT81 keratin 81 gene DOID:9008678 Epidermolysis Bullosa Simplex 2E with Migratory Circinate Erythema ISO RGD:1343872 D RGD:7240710 20180130 OMIM 12331394 KRT81 keratin 81 gene DOID:9008678 Epidermolysis Bullosa Simplex 2E with Migratory Circinate Erythema ISO RGD:1343872 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with migratory circinate erythema PMID:12925204|PMID:15324323|PMID:15647384|PMID:15982306|PMID:20055872|PMID:20301543|PMID:23889190|PMID:24104543|PMID:25741868|PMID:27730678|PMID:28492532|PMID:29180315|PMID:31965605|PMID:7520042|PMID:8807337|PMID:9036937 12331394 KRT81 keratin 81 gene DOID:9008939 Breast Neoplasms ISO RGD:1343872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 12331407 H2BC12 H2B clustered histone 12 gene DOID:12849 autistic disorder ISO RGD:1351367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12331412 NEUROD1 neuronal differentiation 1 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:731467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:25741868|PMID:28492532 12331412 NEUROD1 neuronal differentiation 1 gene DOID:0110746 type 1 diabetes mellitus 7 ISO RGD:735545 D RGD:9068941 20220825 MouseDO OMIM:600321 12331412 NEUROD1 neuronal differentiation 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:731467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10545951|PMID:25741868 12331412 NEUROD1 neuronal differentiation 1 gene DOID:0111104 maturity-onset diabetes of the young type 6 ISO RGD:731467 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 6 PMID:10545951|PMID:12639765|PMID:16321269|PMID:18414213|PMID:25041077|PMID:25741868|PMID:27420379|PMID:28095440|PMID:28492532|PMID:28664602|PMID:30191644|PMID:30259503|PMID:34556497 12331412 NEUROD1 neuronal differentiation 1 gene DOID:0111104 maturity-onset diabetes of the young type 6 susceptibility ISO RGD:731467 D RGD:7240710 20230510 OMIM 12331412 NEUROD1 neuronal differentiation 1 gene DOID:10584 retinitis pigmentosa ISO RGD:731467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28041643 12331412 NEUROD1 neuronal differentiation 1 gene DOID:10603 glucose intolerance susceptibility ISO RGD:731467 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A45T (human) PMID:15277395|REF_RGD_ID:1601481 12331412 NEUROD1 neuronal differentiation 1 gene DOID:4195 hyperglycemia ISO RGD:731467 D RGD:9068941 20200609 RGD DNA:mutations:promoter, exon:-1972G>A, p.A322N (human) PMID:18811724|REF_RGD_ID:2313477 12331412 NEUROD1 neuronal differentiation 1 gene DOID:630 genetic disease ISO RGD:731467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12331412 NEUROD1 neuronal differentiation 1 gene DOID:863 nervous system disease ISO RGD:731467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23203475 12331412 NEUROD1 neuronal differentiation 1 gene DOID:9002188 Hypoinsulinemia ISO RGD:731467 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypoinsulinemia PMID:12639765|PMID:18414213|PMID:25741868|PMID:27420379|PMID:28492532 12331412 NEUROD1 neuronal differentiation 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12331412 NEUROD1 neuronal differentiation 1 gene DOID:9351 diabetes mellitus ISO RGD:731467 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:12639765|PMID:18414213|PMID:25741868|PMID:27420379|PMID:28492532|PMID:30259503 12331412 NEUROD1 neuronal differentiation 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10545951|PMID:25741868 12331412 NEUROD1 neuronal differentiation 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:731467 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A45T (human) PMID:15592940|REF_RGD_ID:2313486 12331412 NEUROD1 neuronal differentiation 1 gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:731467 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A45T (human) PMID:16773428|REF_RGD_ID:2313482 12331412 NEUROD1 neuronal differentiation 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:731467 D RGD:7240710 20230510 OMIM 12331412 NEUROD1 neuronal differentiation 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731467 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A45T (human) PMID:16357810|REF_RGD_ID:2313483 12331412 NEUROD1 neuronal differentiation 1 gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:731467 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A45T (human) PMID:15047635|REF_RGD_ID:2313487 12331412 NEUROD1 neuronal differentiation 1 gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:731467 D RGD:9068941 20200609 RGD DNA:polymorphism:exon PMID:16909454|REF_RGD_ID:2313481 12331412 NEUROD1 neuronal differentiation 1 gene DOID:9970 obesity ISO RGD:731467 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:15979049|REF_RGD_ID:1625044 12331418 NIPAL4 NIPA like domain containing 4 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:2306343 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:15317751|PMID:17557927|PMID:19434086|PMID:20016120|PMID:20301593|PMID:22098531|PMID:22622417|PMID:24397709|PMID:25326635|PMID:25458912|PMID:25741868|PMID:26762237|PMID:27025581|PMID:28492532|PMID:29444371|PMID:29453417|PMID:31046801|PMID:31168818|PMID:31532840|PMID:33786896 12331418 NIPAL4 NIPA like domain containing 4 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:2306343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 12331418 NIPAL4 NIPA like domain containing 4 gene DOID:0060715 autosomal recessive congenital ichthyosis 6 IAGP D RGD:12801476 20211201 OMIA Ichthyosis, NIPAL4-related PMID:23182326|PMID:25322746|PMID:28122049|PMID:30741495|PMID:34796560 12331418 NIPAL4 NIPA like domain containing 4 gene DOID:0060715 autosomal recessive congenital ichthyosis 6 ISO RGD:2306343 D RGD:7240710 20180130 OMIM 12331418 NIPAL4 NIPA like domain containing 4 gene DOID:0060715 autosomal recessive congenital ichthyosis 6 ISO RGD:2306343 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6 PMID:15317751|PMID:17557927|PMID:19434086|PMID:20016120|PMID:20301593|PMID:22098531|PMID:22622417|PMID:24397709|PMID:25326635|PMID:25458912|PMID:25741868|PMID:26762237|PMID:27025581|PMID:28492532|PMID:29444371|PMID:29453417|PMID:31046801|PMID:31168818|PMID:31532840|PMID:33786896 12331418 NIPAL4 NIPA like domain containing 4 gene DOID:0111195 erythrokeratodermia variabilis et progressiva 1 ISO RGD:2306343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 12331418 NIPAL4 NIPA like domain containing 4 gene DOID:630 genetic disease ISO RGD:2306343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12331428 NAIF1 nuclear apoptosis inducing factor 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1348051 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12331428 NAIF1 nuclear apoptosis inducing factor 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1348051 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12331428 NAIF1 nuclear apoptosis inducing factor 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1348051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12331428 NAIF1 nuclear apoptosis inducing factor 1 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1348051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 12331428 NAIF1 nuclear apoptosis inducing factor 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1348051 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12331428 NAIF1 nuclear apoptosis inducing factor 1 gene DOID:630 genetic disease ISO RGD:1348051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12331435 CASQ1 calsequestrin 1 gene DOID:0060178 familial hemiplegic migraine ISO RGD:1344349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 12331435 CASQ1 calsequestrin 1 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1344349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:28492532 12331435 CASQ1 calsequestrin 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1344349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12331435 CASQ1 calsequestrin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1344349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12331435 CASQ1 calsequestrin 1 gene DOID:423 myopathy ISO RGD:1344349 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 12331435 CASQ1 calsequestrin 1 gene DOID:630 genetic disease ISO RGD:1344349 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12331435 CASQ1 calsequestrin 1 gene DOID:9005189 Vacuolar Myopathy ISO RGD:1344349 D RGD:7240710 20180130 OMIM 12331435 CASQ1 calsequestrin 1 gene DOID:9005189 Vacuolar Myopathy ISO RGD:1344349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, vacuolar, with casq1 aggregates PMID:16714317|PMID:25116801|PMID:25741868|PMID:26136523|PMID:26416891|PMID:28492532 12331435 CASQ1 calsequestrin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1586677 D RGD:9068941 20200609 RGD protein:increased activity:skeletal muscle tissue PMID:11976916|REF_RGD_ID:2314137 12331435 CASQ1 calsequestrin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12331435 CASQ1 calsequestrin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344349 D RGD:9068941 20200609 RGD DNA:SNP: :rs617698(human) PMID:18269685|REF_RGD_ID:2314133 12331435 CASQ1 calsequestrin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344349 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:15561962|PMID:15561963|REF_RGD_ID:2314135|REF_RGD_ID:2314136 12331435 CASQ1 calsequestrin 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1344349 D RGD:9068941 20200609 RGD DNA:SNP: :rs2275703(human) PMID:17681849|REF_RGD_ID:2314134 12331450 ELF5 E74 like ETS transcription factor 5 gene DOID:1059 intellectual disability ISO RGD:1314143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12331450 ELF5 E74 like ETS transcription factor 5 gene DOID:630 genetic disease ISO RGD:1314143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12331469 ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif 19 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12331469 ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif 19 gene DOID:4079 heart valve disease ISO RGD:1318082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31844321 12331469 ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif 19 gene DOID:62 aortic valve disease ISO RGD:1318083 D RGD:9068941 20220825 MouseDO 12331469 ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif 19 gene DOID:630 genetic disease ISO RGD:1318082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12331469 ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif 19 gene DOID:9001576 CARDIAC VALVULAR DYSPLASIA 2 ISO RGD:1318082 D RGD:7240710 20221207 OMIM 12331469 ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif 19 gene DOID:9001576 CARDIAC VALVULAR DYSPLASIA 2 ISO RGD:1318082 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac valvular dysplasia 2 PMID:31844321|PMID:32323311 12331469 ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif 19 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12331469 ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif 19 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12331496 ANTXRL ANTXR like gene DOID:5419 schizophrenia ISO RGD:1602061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12331517 TMEM150B transmembrane protein 150B gene DOID:0080600 COVID-19 ISO RGD:2304150 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12331517 TMEM150B transmembrane protein 150B gene DOID:630 genetic disease ISO RGD:2304150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12331537 NTS neurotensin gene DOID:11446 sciatic neuropathy ISO RGD:621612 D RGD:9068941 20200609 RGD PMID:8518953|REF_RGD_ID:9743903 12331537 NTS neurotensin gene DOID:3007 breast ductal carcinoma ISO RGD:1319092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12331537 NTS neurotensin gene DOID:630 genetic disease ISO RGD:1319092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12331537 NTS neurotensin gene DOID:9000332 Hypovolemia ISO RGD:621612 D RGD:9068941 20200609 RGD mRNA:increased expression:neuron: PMID:7721997|REF_RGD_ID:9727453 12331537 NTS neurotensin gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:621612 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:neuron: PMID:8866516|REF_RGD_ID:9743915 12331537 NTS neurotensin gene DOID:9001480 Muscle Rigidity ISO RGD:1319092 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8036282 12331537 NTS neurotensin gene DOID:9002362 Hyperkinesis ISO RGD:1319092 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3748325|PMID:6682440 12331537 NTS neurotensin gene DOID:9002457 Experimental Arthritis ISO RGD:621612 D RGD:9068941 20200609 RGD PMID:8518953|REF_RGD_ID:9743903 12331537 NTS neurotensin gene DOID:9003805 Catalepsy ISO RGD:1319092 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20882060 12331537 NTS neurotensin gene DOID:9007001 Bradycardia ISO RGD:1319092 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2326505 12331545 PTPN9 protein tyrosine phosphatase non-receptor type 9 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1353327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 12331545 PTPN9 protein tyrosine phosphatase non-receptor type 9 gene DOID:1826 epilepsy ISO RGD:1353327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12331545 PTPN9 protein tyrosine phosphatase non-receptor type 9 gene DOID:2717 Bloom syndrome ISO RGD:1353327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12331545 PTPN9 protein tyrosine phosphatase non-receptor type 9 gene DOID:5419 schizophrenia ISO RGD:1353327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12331545 PTPN9 protein tyrosine phosphatase non-receptor type 9 gene DOID:630 genetic disease ISO RGD:1353327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12331545 PTPN9 protein tyrosine phosphatase non-receptor type 9 gene DOID:9256 colorectal cancer ISO RGD:1353327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12331566 CMTM3 CKLF like MARVEL transmembrane domain containing 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1318724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12331566 CMTM3 CKLF like MARVEL transmembrane domain containing 3 gene DOID:0110255 cataract 5 multiple types ISO RGD:1318724 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 12331566 CMTM3 CKLF like MARVEL transmembrane domain containing 3 gene DOID:630 genetic disease ISO RGD:1318724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12331566 CMTM3 CKLF like MARVEL transmembrane domain containing 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12331580 NETO1 neuropilin and tolloid like 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1348864 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12331580 NETO1 neuropilin and tolloid like 1 gene DOID:630 genetic disease ISO RGD:1348864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12331580 NETO1 neuropilin and tolloid like 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1348864 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12331580 NETO1 neuropilin and tolloid like 1 gene DOID:8445 intestinal volvulus ISO RGD:1348864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12331580 NETO1 neuropilin and tolloid like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12331580 NETO1 neuropilin and tolloid like 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1348864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12331613 NLRP12 NLR family pyrin domain containing 12 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1319748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:25741868|PMID:28492532 12331613 NLRP12 NLR family pyrin domain containing 12 gene DOID:0090061 familial cold autoinflammatory syndrome ISO RGD:1319748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome PMID:24033266|PMID:24064030|PMID:25741868|PMID:27314497|PMID:27633793|PMID:28492532 12331613 NLRP12 NLR family pyrin domain containing 12 gene DOID:0090063 familial cold autoinflammatory syndrome 2 ISO RGD:1319748 D RGD:7240710 20210113 OMIM 12331613 NLRP12 NLR family pyrin domain containing 12 gene DOID:0090063 familial cold autoinflammatory syndrome 2 ISO RGD:1319748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 PMID:16199547|PMID:17576681|PMID:18230725|PMID:21360512|PMID:21538323|PMID:24033266|PMID:24064030|PMID:25064839|PMID:25640679|PMID:25741868|PMID:26508570|PMID:27314497|PMID:27633793|PMID:28166811|PMID:28492532|PMID:29500522|PMID:30788684|PMID:31155445|PMID:31820221|PMID:32888943|PMID:9536098 12331613 NLRP12 NLR family pyrin domain containing 12 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1319748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:16199547|PMID:17576681|PMID:18230725|PMID:21360512|PMID:21538323|PMID:24033266|PMID:24064030|PMID:25741868|PMID:27314497|PMID:27633793|PMID:28492532|PMID:29500522|PMID:30788684|PMID:31820221|PMID:9536098 12331613 NLRP12 NLR family pyrin domain containing 12 gene DOID:2987 familial Mediterranean fever ISO RGD:1319748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periodic fever syndrome PMID:28492532 12331613 NLRP12 NLR family pyrin domain containing 12 gene DOID:4450 renal cell carcinoma ISO RGD:1319748 D RGD:9068941 20210114 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 12331613 NLRP12 NLR family pyrin domain containing 12 gene DOID:630 genetic disease ISO RGD:1319748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12331613 NLRP12 NLR family pyrin domain containing 12 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1319748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570|PMID:28492532 12331613 NLRP12 NLR family pyrin domain containing 12 gene DOID:9074 systemic lupus erythematosus ISO RGD:1319748 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 10 PMID:25741868|PMID:28492532 12331731 THRA thyroid hormone receptor alpha gene DOID:0070128 congenital nongoitrous hypothyroidism 6 ISO RGD:736295 D RGD:7240710 20180130 OMIM 12331731 THRA thyroid hormone receptor alpha gene DOID:0070128 congenital nongoitrous hypothyroidism 6 ISO RGD:736295 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6 PMID:11075809|PMID:22168587|PMID:22494134|PMID:24969835|PMID:25326635|PMID:25670821|PMID:25741868|PMID:28492532|PMID:34008892 12331731 THRA thyroid hormone receptor alpha gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:736295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 12331731 THRA thyroid hormone receptor alpha gene DOID:11633 thyroid hormone resistance syndrome ISO RGD:11415 D RGD:9068941 20220825 MouseDO OMIM:188570 | OMIM:274300 12331731 THRA thyroid hormone receptor alpha gene DOID:1612 breast cancer ISO RGD:736295 D RGD:9068941 20200609 RGD PMID:12082618|REF_RGD_ID:2315096 12331731 THRA thyroid hormone receptor alpha gene DOID:289 endometriosis ISO RGD:736295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12331731 THRA thyroid hormone receptor alpha gene DOID:4450 renal cell carcinoma ISO RGD:736295 D RGD:9068941 20200609 RGD DNA:mutations (human) PMID:11756220|REF_RGD_ID:2315097 12331731 THRA thyroid hormone receptor alpha gene DOID:630 genetic disease ISO RGD:736295 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24969835|PMID:25741868 12331731 THRA thyroid hormone receptor alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12331731 THRA thyroid hormone receptor alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3857 D RGD:9068941 20200609 RGD associated with Myocardial Infarction;protein:increased expression:heart PMID:17389455|REF_RGD_ID:2314321 12331731 THRA thyroid hormone receptor alpha gene DOID:9009073 Diaphragmatic Hernia ISO RGD:736295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11685700 12331744 MT1E metallothionein 1E gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345638 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12331744 MT1E metallothionein 1E gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345638 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12331744 MT1E metallothionein 1E gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1345638 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12331744 MT1E metallothionein 1E gene DOID:630 genetic disease ISO RGD:1345638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12331744 MT1E metallothionein 1E gene DOID:9000117 Esophageal Neoplasms ISO RGD:1345638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17068819 12331745 GCKR glucokinase regulator gene DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly ISO RGD:69130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly PMID:28492532 12331745 GCKR glucokinase regulator gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:69130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12331745 GCKR glucokinase regulator gene DOID:630 genetic disease ISO RGD:69130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12331745 GCKR glucokinase regulator gene DOID:783 end stage renal disease ISO RGD:69130 D RGD:9068941 20200609 RGD DNA: snp: rs1260326 PMID:21980298|REF_RGD_ID:7242279 12331745 GCKR glucokinase regulator gene DOID:9006599 Hypertriglyceridemia ISO RGD:69130 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia PMID:22182842|PMID:25741868|PMID:28492532 12331745 GCKR glucokinase regulator gene DOID:9006646 Metabolic Syndrome ISO RGD:69130 D RGD:9068941 20200609 RGD PMID:19861489|REF_RGD_ID:7242423 12331745 GCKR glucokinase regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:69130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20081858 12331745 GCKR glucokinase regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:69130 D RGD:9068941 20200609 RGD PMID:11473043|PMID:21411509|REF_RGD_ID:2315986|REF_RGD_ID:7242280 12331745 GCKR glucokinase regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:69130 D RGD:9068941 20200609 RGD DNA:SNP::rs1260326(human) PMID:18556336|REF_RGD_ID:2315985 12331745 GCKR glucokinase regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:69130 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs780094 (human) PMID:19241058|REF_RGD_ID:2315983 12331745 GCKR glucokinase regulator gene DOID:9970 obesity no_association ISO RGD:69130 D RGD:9068941 20200609 RGD DNA:mutations:CDS:no association with mutations P446L, R590Y, R227X or R518Q in obese French patients despite localization of gene within a QTL for obesity-related phenotypes PMID:12739015|REF_RGD_ID:1626607 12331768 RRAS RAS related gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1322910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 12331768 RRAS RAS related gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1322910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12331768 RRAS RAS related gene DOID:0080600 COVID-19 ISO RGD:1322910 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12331768 RRAS RAS related gene DOID:3490 Noonan syndrome ISO RGD:1322910 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:17576681|PMID:24033266|PMID:24705357|PMID:25741868|PMID:28492532|PMID:28875981|PMID:9536098 12331768 RRAS RAS related gene DOID:630 genetic disease ISO RGD:1322910 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12331768 RRAS RAS related gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12331778 LAMB2 laminin subunit beta 2 gene DOID:0060852 Pierson syndrome ISO RGD:733412 D RGD:7240710 20180130 OMIM 12331778 LAMB2 laminin subunit beta 2 gene DOID:0060852 Pierson syndrome ISO RGD:733412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:14136829|PMID:15367484|PMID:15372515|PMID:16097004|PMID:16199547|PMID:16898484|PMID:16912710|PMID:17256789|PMID:17576681|PMID:18594871|PMID:18672223|PMID:19251977|PMID:20507940|PMID:20556798|PMID:21236492|PMID:21763483|PMID:2206901|PMID:23349334|PMID:23595123|PMID:24033266|PMID:25349199|PMID:25741868|PMID:26108971|PMID:26239645|PMID:26248470|PMID:26467025|PMID:26467726|PMID:27004562|PMID:27858192|PMID:28188379|PMID:28476686|PMID:28492532|PMID:28780565|PMID:29127259|PMID:30013592|PMID:30295827|PMID:31959872|PMID:32295525|PMID:32860008|PMID:33749661|PMID:9536098 12331778 LAMB2 laminin subunit beta 2 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:733412 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:28492532 12331778 LAMB2 laminin subunit beta 2 gene DOID:0080380 nephrotic syndrome type 5 ISO RGD:733412 D RGD:7240710 20180130 OMIM 12331778 LAMB2 laminin subunit beta 2 gene DOID:0080380 nephrotic syndrome type 5 ISO RGD:733412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities PMID:14136829|PMID:15367484|PMID:16097004|PMID:16912710|PMID:17576681|PMID:18594871|PMID:18672223|PMID:19251977|PMID:20556798|PMID:21236492|PMID:21763483|PMID:2206901|PMID:23349334|PMID:23595123|PMID:25741868|PMID:26239645|PMID:26248470|PMID:26467025|PMID:26467726|PMID:27858192|PMID:28492532|PMID:29127259|PMID:30295827|PMID:7885444|PMID:9536098 12331778 LAMB2 laminin subunit beta 2 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:733412 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:20556798|PMID:25741868|PMID:26467025|PMID:28492532 12331778 LAMB2 laminin subunit beta 2 gene DOID:1184 nephrotic syndrome ISO RGD:733412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:15367484|PMID:17576681|PMID:18672223|PMID:2206901|PMID:25741868|PMID:28492532|PMID:29127259|PMID:30295827|PMID:33749661|PMID:9536098 12331778 LAMB2 laminin subunit beta 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:733412 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:20556798|PMID:25741868|PMID:26467025|PMID:28492532 12331778 LAMB2 laminin subunit beta 2 gene DOID:1561 cognitive disorder ISO RGD:733412 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30226399 12331778 LAMB2 laminin subunit beta 2 gene DOID:2527 nephrosis ISO RGD:10854 D RGD:9068941 20220825 MouseDO 12331778 LAMB2 laminin subunit beta 2 gene DOID:2921 glomerulonephritis ISO RGD:733412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glomerulonephritis PMID:25741868|PMID:28492532 12331778 LAMB2 laminin subunit beta 2 gene DOID:557 kidney disease ISO RGD:733412 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:18594871|PMID:20556798|PMID:21763483|PMID:23349334|PMID:25741868|PMID:26239645|PMID:26248470|PMID:26467025|PMID:27858192|PMID:28492532 12331778 LAMB2 laminin subunit beta 2 gene DOID:576 proteinuria ISO RGD:2988 D RGD:9068941 20200609 RGD PMID:21511833|REF_RGD_ID:7207433 12331778 LAMB2 laminin subunit beta 2 gene DOID:630 genetic disease ISO RGD:733412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 12331778 LAMB2 laminin subunit beta 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:733412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12331778 LAMB2 laminin subunit beta 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2988 D RGD:9068941 20200609 RGD PMID:19864299|REF_RGD_ID:7207449 12331778 LAMB2 laminin subunit beta 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733412 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12331778 LAMB2 laminin subunit beta 2 gene DOID:9008897 Diffuse Mesangial Sclerosis ISO RGD:733412 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Diffuse mesangial sclerosis PMID:25741868|PMID:28492532 12331827 TRIP4 thyroid hormone receptor interactor 4 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1315680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12331827 TRIP4 thyroid hormone receptor interactor 4 gene DOID:2717 Bloom syndrome ISO RGD:1315680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12331827 TRIP4 thyroid hormone receptor interactor 4 gene DOID:630 genetic disease ISO RGD:1315680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12331827 TRIP4 thyroid hormone receptor interactor 4 gene DOID:9006286 Congenital Muscular Dystrophy, Davignon-Chauveau Type ISO RGD:1315680 D RGD:7240710 20190315 OMIM 12331827 TRIP4 thyroid hormone receptor interactor 4 gene DOID:9006286 Congenital Muscular Dystrophy, Davignon-Chauveau Type ISO RGD:1315680 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, congenital, davignon-chauveau type PMID:25741868|PMID:27008887|PMID:28492532|PMID:31794073 12331827 TRIP4 thyroid hormone receptor interactor 4 gene DOID:9007140 Spinal Muscular Atrophy with Congenital Bone Fractures 1 ISO RGD:1315680 D RGD:7240710 20190315 OMIM 12331827 TRIP4 thyroid hormone receptor interactor 4 gene DOID:9007140 Spinal Muscular Atrophy with Congenital Bone Fractures 1 ISO RGD:1315680 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 1 PMID:25741868|PMID:26924529|PMID:28492532 12331827 TRIP4 thyroid hormone receptor interactor 4 gene DOID:9256 colorectal cancer ISO RGD:1315680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12331852 TMEM39A transmembrane protein 39A gene DOID:630 genetic disease ISO RGD:1353039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12331865 RABGEF1 RAB guanine nucleotide exchange factor 1 gene DOID:14755 argininosuccinic aciduria ISO RGD:1316404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:28492532 12331865 RABGEF1 RAB guanine nucleotide exchange factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12331865 RABGEF1 RAB guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:1316404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12331892 SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:1227 neutropenia ISO RGD:734113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28369036 12331892 SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:734113 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:33025377 12331892 SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:630 genetic disease ISO RGD:734113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12331892 SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:8692 myeloid leukemia ISO RGD:734113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28369036 12331892 SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:734113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28369034|PMID:28369036 12331892 SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:9006809 Specific Granule Deficiency 2 ISO RGD:734113 D RGD:7240710 20190327 OMIM 12331892 SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:9006809 Specific Granule Deficiency 2 ISO RGD:734113 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Specific granule deficiency 2 PMID:25741868|PMID:28369036|PMID:28492532|PMID:33025377|PMID:35320004 12331892 SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:9009082 Specific Granule Deficiency 1 ISO RGD:734113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Specific granule deficiency 1 PMID:28369036 12331920 OR13F1B olfactory receptor family 13 subfamily F member 1B gene DOID:630 genetic disease ISO RGD:1342816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12331923 CROT carnitine O-octanoyltransferase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12331923 CROT carnitine O-octanoyltransferase gene DOID:630 genetic disease ISO RGD:732197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12331923 CROT carnitine O-octanoyltransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12331923 CROT carnitine O-octanoyltransferase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:70908 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle, cardiac muscle cell PMID:14618266|REF_RGD_ID:1599987 12331955 GLT8D1 glycosyltransferase 8 domain containing 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1348884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12331955 GLT8D1 glycosyltransferase 8 domain containing 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1348884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12331955 GLT8D1 glycosyltransferase 8 domain containing 1 gene DOID:630 genetic disease ISO RGD:1348884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12331955 GLT8D1 glycosyltransferase 8 domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12331955 GLT8D1 glycosyltransferase 8 domain containing 1 gene DOID:9255 frontotemporal dementia ISO RGD:1348884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia 12331979 CXXC5 CXXC finger protein 5 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1345048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12331979 CXXC5 CXXC finger protein 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1345048 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12331979 CXXC5 CXXC finger protein 5 gene DOID:630 genetic disease ISO RGD:1345048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12331979 CXXC5 CXXC finger protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12331979 CXXC5 CXXC finger protein 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345048 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12331989 ADAMTS16 ADAM metallopeptidase with thrombospondin type 1 motif 16 gene DOID:10763 hypertension ISO RGD:1310046 D RGD:9068941 20200609 RGD PMID:23185005|REF_RGD_ID:9685162 12331989 ADAMTS16 ADAM metallopeptidase with thrombospondin type 1 motif 16 gene DOID:11383 cryptorchidism ISO RGD:1310046 D RGD:9068941 20201211 RGD PMID:24983376|PMID:32037220|REF_RGD_ID:13434925|REF_RGD_ID:38548917 12331989 ADAMTS16 ADAM metallopeptidase with thrombospondin type 1 motif 16 gene DOID:12336 male infertility ISO RGD:1310046 D RGD:9068941 20201211 RGD PMID:24983376|PMID:32037220|REF_RGD_ID:13434925|REF_RGD_ID:38548917 12331989 ADAMTS16 ADAM metallopeptidase with thrombospondin type 1 motif 16 gene DOID:630 genetic disease ISO RGD:1320722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12331989 ADAMTS16 ADAM metallopeptidase with thrombospondin type 1 motif 16 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:1320722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 12332014 B4GALNT2 beta-1,4-N-acetyl-galactosaminyltransferase 2 gene DOID:630 genetic disease ISO RGD:1354479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332014 B4GALNT2 beta-1,4-N-acetyl-galactosaminyltransferase 2 gene DOID:9001500 Sd(a) POLYAGGLUTINATION SYNDROME ISO RGD:1354479 D RGD:7240710 20220209 OMIM 12332014 B4GALNT2 beta-1,4-N-acetyl-galactosaminyltransferase 2 gene DOID:9001500 Sd(a) POLYAGGLUTINATION SYNDROME ISO RGD:1354479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BLOOD GROUP, SID SYSTEM PMID:28492532|PMID:31367682 12332014 B4GALNT2 beta-1,4-N-acetyl-galactosaminyltransferase 2 gene DOID:9005170 polyagglutination ISO RGD:1354479 D RGD:7240710 20230505 OMIM 12332029 TMEM88 transmembrane protein 88 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1601835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12332029 TMEM88 transmembrane protein 88 gene DOID:12177 common variable immunodeficiency ISO RGD:1601835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12332029 TMEM88 transmembrane protein 88 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1601835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12332029 TMEM88 transmembrane protein 88 gene DOID:2729 dyskeratosis congenita ISO RGD:1601835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12332029 TMEM88 transmembrane protein 88 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1601835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12332029 TMEM88 transmembrane protein 88 gene DOID:630 genetic disease ISO RGD:1601835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332035 GCA grancalcin gene DOID:12849 autistic disorder ISO RGD:1315291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 12332035 GCA grancalcin gene DOID:630 genetic disease ISO RGD:1315291 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332053 FAM83A family with sequence similarity 83 member A gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1602845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12332053 FAM83A family with sequence similarity 83 member A gene DOID:630 genetic disease ISO RGD:1602845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332053 FAM83A family with sequence similarity 83 member A gene DOID:9000918 Disease Progression ISO RGD:1602845 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34931434 12332053 FAM83A family with sequence similarity 83 member A gene DOID:9002762 Ovarian Neoplasms ISO RGD:1602845 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34931434 12332053 FAM83A family with sequence similarity 83 member A gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1602845 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34931434 12332061 SERPIND1 serpin family D member 1 gene DOID:0050117 disease by infectious agent ISO RGD:732320 D RGD:9068941 20200609 RGD associated with Disseminated Intravascular Coagulation;protein:decreased expression:plasma (human) PMID:12361205|REF_RGD_ID:1580300 12332061 SERPIND1 serpin family D member 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:732320 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12332061 SERPIND1 serpin family D member 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:732320 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12332061 SERPIND1 serpin family D member 1 gene DOID:0111901 heparin cofactor II deficiency ISO RGD:732320 D RGD:7240710 20180130 OMIM 12332061 SERPIND1 serpin family D member 1 gene DOID:0111901 heparin cofactor II deficiency ISO RGD:732320 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Heparin cofactor II deficiency | ClinVar Annotator: match by term: Thrombotic stroke PMID:11204559|PMID:25741868|PMID:2647747|PMID:28492532|PMID:31064749|PMID:34355501|PMID:8562924|PMID:8902986 12332061 SERPIND1 serpin family D member 1 gene DOID:1059 intellectual disability ISO RGD:732320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12332061 SERPIND1 serpin family D member 1 gene DOID:11198 DiGeorge syndrome ISO RGD:732320 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12332061 SERPIND1 serpin family D member 1 gene DOID:11372 megacolon ISO RGD:732320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12332061 SERPIND1 serpin family D member 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:732320 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12332061 SERPIND1 serpin family D member 1 gene DOID:12849 autistic disorder ISO RGD:732320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12332061 SERPIND1 serpin family D member 1 gene DOID:13252 mesenteric vascular occlusion ISO RGD:732320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1831893 12332061 SERPIND1 serpin family D member 1 gene DOID:1826 epilepsy ISO RGD:732320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12332061 SERPIND1 serpin family D member 1 gene DOID:2213 hemorrhagic disease ISO RGD:732320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 12332061 SERPIND1 serpin family D member 1 gene DOID:2452 thrombophilia ISO RGD:732320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2214444 12332061 SERPIND1 serpin family D member 1 gene DOID:3410 carotid artery thrombosis ISO RGD:732320 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11805133 12332061 SERPIND1 serpin family D member 1 gene DOID:5419 schizophrenia ISO RGD:732320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12332061 SERPIND1 serpin family D member 1 gene DOID:612 primary immunodeficiency disease ISO RGD:732320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12332061 SERPIND1 serpin family D member 1 gene DOID:630 genetic disease ISO RGD:732320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332061 SERPIND1 serpin family D member 1 gene DOID:9003505 Venous Thromboembolism ISO RGD:732320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1831893 12332061 SERPIND1 serpin family D member 1 gene DOID:9003871 Venous Thrombosis ISO RGD:732320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 12332061 SERPIND1 serpin family D member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12332061 SERPIND1 serpin family D member 1 gene DOID:9007661 Dwarfism ISO RGD:732320 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12332082 KLRB1 killer cell lectin like receptor B1 gene DOID:0080600 COVID-19 ISO RGD:1343225 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12332082 KLRB1 killer cell lectin like receptor B1 gene DOID:1909 melanoma ISO RGD:1343225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17295095 12332082 KLRB1 killer cell lectin like receptor B1 gene DOID:630 genetic disease ISO RGD:1343225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332114 SUDS3 SDS3 homolog, SIN3A corepressor complex component gene DOID:630 genetic disease ISO RGD:1605050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332177 TBC1D15 TBC1 domain family member 15 gene DOID:630 genetic disease ISO RGD:1317393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332200 ANKRD39 ankyrin repeat domain 39 gene DOID:1059 intellectual disability ISO RGD:1602717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12332200 ANKRD39 ankyrin repeat domain 39 gene DOID:5419 schizophrenia ISO RGD:1602717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12332200 ANKRD39 ankyrin repeat domain 39 gene DOID:630 genetic disease ISO RGD:1602717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332208 POC1B POC1 centriolar protein B gene DOID:0050572 cone-rod dystrophy ISO RGD:1350683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868 12332208 POC1B POC1 centriolar protein B gene DOID:0111026 cone-rod dystrophy 20 ISO RGD:1350683 D RGD:7240710 20180130 OMIM 12332208 POC1B POC1 centriolar protein B gene DOID:0111026 cone-rod dystrophy 20 ISO RGD:1350683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 20 PMID:17576681|PMID:24945461|PMID:25018096|PMID:25044745|PMID:25741868|PMID:28492532|PMID:29220607|PMID:32244552|PMID:34065499|PMID:9536098 12332208 POC1B POC1 centriolar protein B gene DOID:630 genetic disease ISO RGD:1350683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12332208 POC1B POC1 centriolar protein B gene DOID:8501 fundus dystrophy ISO RGD:1350683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25018096|PMID:28492532|PMID:29220607 12332208 POC1B POC1 centriolar protein B gene DOID:9007491 Childhood Schizophrenia ISO RGD:1350683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 12332234 RPS7 ribosomal protein S7 gene DOID:0111881 Diamond-Blackfan anemia 8 ISO RGD:1348295 D RGD:7240710 20180130 OMIM 12332234 RPS7 ribosomal protein S7 gene DOID:0111881 Diamond-Blackfan anemia 8 ISO RGD:1348295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 PMID:17576681|PMID:19061985|PMID:23718193|PMID:25424902|PMID:25741868|PMID:27882484|PMID:28102861|PMID:28492532|PMID:9536098 12332234 RPS7 ribosomal protein S7 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1348295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:25741868|PMID:26136524|PMID:28492532 12332234 RPS7 ribosomal protein S7 gene DOID:9008939 Breast Neoplasms ISO RGD:1348295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12332245 HAO2 hydroxyacid oxidase 2 gene DOID:0050722 PHGDH deficiency ISO RGD:1346012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:14645240|PMID:24836451|PMID:28492532 12332245 HAO2 hydroxyacid oxidase 2 gene DOID:13580 cholestasis ISO RGD:1346012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12332245 HAO2 hydroxyacid oxidase 2 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1346012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 12332245 HAO2 hydroxyacid oxidase 2 gene DOID:630 genetic disease ISO RGD:1346012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332245 HAO2 hydroxyacid oxidase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1346012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12332245 HAO2 hydroxyacid oxidase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 12332245 HAO2 hydroxyacid oxidase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12332263 RINT1 RAD50 interactor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12332263 RINT1 RAD50 interactor 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25050558|PMID:25741868|PMID:28492532|PMID:32566746 12332263 RINT1 RAD50 interactor 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25050558|PMID:25741868|PMID:28492532|PMID:31204009|PMID:32566746 12332263 RINT1 RAD50 interactor 1 gene DOID:630 genetic disease ISO RGD:1605055 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32566746 12332263 RINT1 RAD50 interactor 1 gene DOID:9004590 Acute Liver Failure ISO RGD:1605055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fulminant hepatic failure PMID:25050558|PMID:25741868|PMID:28492532|PMID:31204009|PMID:32283892|PMID:33099839 12332263 RINT1 RAD50 interactor 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1605055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:16199547|PMID:25741868|PMID:28492532|PMID:31204009|PMID:33471991 12332263 RINT1 RAD50 interactor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605055 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17576681|PMID:24033266|PMID:25050558|PMID:25741868|PMID:26787654|PMID:26928227|PMID:27544226|PMID:28166811|PMID:28492532|PMID:31173646|PMID:31204009|PMID:31567591|PMID:32566746|PMID:33471991|PMID:9536098 12332263 RINT1 RAD50 interactor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:24033266|PMID:25050558|PMID:25741868|PMID:26787654|PMID:26928227|PMID:27544226|PMID:28166811|PMID:28492532|PMID:31173646|PMID:31204009|PMID:31567591|PMID:32283892|PMID:32566746|PMID:33099839|PMID:33471991|PMID:9536098 12332263 RINT1 RAD50 interactor 1 gene DOID:9008663 Infantile Liver Failure Syndrome 3 ISO RGD:1605055 D RGD:7240710 20191030 OMIM 12332263 RINT1 RAD50 interactor 1 gene DOID:9008663 Infantile Liver Failure Syndrome 3 ISO RGD:1605055 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Infantile liver failure syndrome 3 PMID:17576681|PMID:24033266|PMID:25050558|PMID:25741868|PMID:26787654|PMID:27544226|PMID:28492532|PMID:31204009|PMID:31567591|PMID:32283892|PMID:33099839|PMID:9536098 12332285 C1H18orf54 chromosome 1 C18orf54 homolog gene DOID:1059 intellectual disability ISO RGD:1348374 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:0050156 idiopathic pulmonary fibrosis exacerbates ISO RGD:1602894 D RGD:9068941 20210910 RGD associated with lung squamous cell carcinoma; DNA:mutations:multiple (human) PMID:33533494|REF_RGD_ID:150429642 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:1602894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:0070338 cerebellar hypoplasia ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:29276005|PMID:31474318|PMID:32710489 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:0080794 childhood acute megakaryoblastic leukemia ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia without down syndrome PMID:27993330 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:10534 stomach cancer exacerbates ISO RGD:1602894 D RGD:9068941 20210910 RGD mRNA:decreased expression:stomach (human) PMID:29522714|REF_RGD_ID:150429638 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:1059 intellectual disability ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:10908 hydrocephalus ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:31474318 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:1240 leukemia ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24509477 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:12849 autistic disorder ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868|PMID:28492532 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:1790 malignant mesothelioma ISO RGD:1602894 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:1790 malignant mesothelioma ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:mutations:multiple (human) PMID:27834213|REF_RGD_ID:150429641 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:1826 epilepsy ISO RGD:1602894 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:2785 Dandy-Walker syndrome ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:31474318 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29376028 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:3307 teratoma ISO RGD:1602894 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:3571 liver cancer ISO RGD:1602894 D RGD:9068941 20210910 RGD protein:decreased expression:liver (human) PMID:26172293|REF_RGD_ID:11530741 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1602894 D RGD:9068941 20210910 RGD human cells and genes in mouse model PMID:33223508|REF_RGD_ID:150429633 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:mutations:multiple (human) PMID:27687306|REF_RGD_ID:150429649 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1621311 D RGD:9068941 20210910 RGD PMID:28202515|REF_RGD_ID:126848875 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:3910 lung adenocarcinoma severity ISO RGD:1602894 D RGD:9068941 20210910 RGD PMID:33707235|REF_RGD_ID:150429648 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:4450 renal cell carcinoma ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691|PMID:23797736 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:SNPs,loss of heterozygosity:multiple (human) PMID:26864202|REF_RGD_ID:150429635 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:mutations:multiple (human) PMID:26891804|REF_RGD_ID:150429640 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1602894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20864444|PMID:22495309|PMID:23160955|PMID:24267886|PMID:24728327|PMID:24852293|PMID:24901346|PMID:25574603|PMID:25741868|PMID:26084711|PMID:26580448|PMID:27317772|PMID:28424246|PMID:28492532|PMID:29276005|PMID:29681085|PMID:30419952|PMID:31474318|PMID:32710489|PMID:33004838 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:7474 malignant pleural mesothelioma ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:mutations:CDS:multiple (human) PMID:26928227|REF_RGD_ID:150429647 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:1602894 D RGD:9068941 20211105 RGD PMID:33691361|REF_RGD_ID:150520202 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9000027 Microsatellite Instability ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum agenesis PMID:25741868|PMID:29276005|PMID:31474318|PMID:32710489 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1602894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9003745 Enteropathy-Associated T-Cell Lymphoma ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:mutations:multiple (human) PMID:27600764|REF_RGD_ID:150429643 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9004240 Phyllodes Tumor ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9006951 Autosomal Dominant Intellectual Developmental Disorder 70 ISO RGD:1602894 D RGD:7240710 20221221 OMIM 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9006951 Autosomal Dominant Intellectual Developmental Disorder 70 ISO RGD:1602894 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70 PMID:32710489 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9008051 Luscan-Lumish Syndrome ISO RGD:1602894 D RGD:7240710 20190315 OMIM 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9008051 Luscan-Lumish Syndrome ISO RGD:1602894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Luscan-Lumish syndrome | ClinVar Annotator: match by term: Luscan-lumish syndrome PMID:17576681|PMID:20864444|PMID:22495309|PMID:23160955|PMID:24267886|PMID:24728327|PMID:24852293|PMID:24901346|PMID:25574603|PMID:25741868|PMID:26084711|PMID:26467025|PMID:26580448|PMID:27317772|PMID:27455002|PMID:28166811|PMID:28424246|PMID:28492532|PMID:28577310|PMID:29276005|PMID:29681085|PMID:30419952|PMID:31474318|PMID:32668055|PMID:32710489|PMID:33004838|PMID:9536098 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9008939 Breast Neoplasms ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9009131 Ventriculomegaly ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:31474318 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9253 gastrointestinal stromal tumor exacerbates ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:mutations:multiple (human) PMID:26338826|REF_RGD_ID:150429637 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9256 colorectal cancer ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:frameshift mutation:exon 3:c.4219delA (human) PMID:24925220|REF_RGD_ID:150429646 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9256 colorectal cancer ISO RGD:1602894 D RGD:9068941 20210910 RGD mRNA:decreased expression:colon (human) PMID:26069251|REF_RGD_ID:150429645 12332311 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9256 colorectal cancer exacerbates ISO RGD:10166 D RGD:9068941 20210910 RGD PMID:28825595|REF_RGD_ID:150429636 12332346 BAG5 BAG cochaperone 5 gene DOID:0081162 dilated cardiomyopathy 2F ISO RGD:1321985 D RGD:7240710 20220223 OMIM 12332346 BAG5 BAG cochaperone 5 gene DOID:0081162 dilated cardiomyopathy 2F ISO RGD:1321985 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2F PMID:35044787 12332346 BAG5 BAG cochaperone 5 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1321985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12332346 BAG5 BAG cochaperone 5 gene DOID:14330 Parkinson's disease ISO RGD:1321985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28348719 12332346 BAG5 BAG cochaperone 5 gene DOID:630 genetic disease ISO RGD:1321985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332346 BAG5 BAG cochaperone 5 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1321985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 12332355 EXT1 exostosin glycosyltransferase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1313967 D RGD:9068941 20220825 MouseDO 12332355 EXT1 exostosin glycosyltransferase 1 gene DOID:10907 microcephaly ISO RGD:1313966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24728327|PMID:25741868|PMID:28492532 12332355 EXT1 exostosin glycosyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1313966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12032595 12332355 EXT1 exostosin glycosyltransferase 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1313966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12332355 EXT1 exostosin glycosyltransferase 1 gene DOID:1612 breast cancer ISO RGD:1313966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:28492532 12332355 EXT1 exostosin glycosyltransferase 1 gene DOID:206 hereditary multiple exostoses ISO RGD:1313966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis | ClinVar Annotator: match by term: Multiple congenital exostosis PMID:10480354|PMID:10639137|PMID:10679296|PMID:10679937|PMID:10713884|PMID:11170095|PMID:11342960|PMID:11391482|PMID:11432960|PMID:11668521|PMID:12032595|PMID:12239711|PMID:12490068|PMID:15221792|PMID:15253765|PMID:15586175|PMID:16088908|PMID:16199547|PMID:16283885|PMID:17041877|PMID:17301954|PMID:17576681|PMID:17589361|PMID:1816274|PMID:18165274|PMID:18330718|PMID:18373409|PMID:18976157|PMID:19344451|PMID:19810120|PMID:19819120|PMID:19839753|PMID:20025490|PMID:20418910|PMID:21039224|PMID:21499719|PMID:21520333|PMID:21703028|PMID:22258776|PMID:22382802|PMID:22820392|PMID:22913777|PMID:23262345|PMID:23439489|PMID:23629877|PMID:24120389|PMID:24496678|PMID:24532482|PMID:24728327|PMID:25230886|PMID:25468659|PMID:25520924|PMID:25525159|PMID:25541963|PMID:25640679|PMID:25727835|PMID:25741868|PMID:26239617|PMID:26515642|PMID:26622573|PMID:26690531|PMID:26839764|PMID:26961984|PMID:28492532|PMID:28600779|PMID:28604967|PMID:28690282|PMID:29126381|PMID:29529714|PMID:29620724|PMID:29989442|PMID:30334991|PMID:30806661|PMID:31096510|PMID:33726816|PMID:7550340|PMID:8981950|PMID:9150727|PMID:9326317|PMID:9463333|PMID:9521425|PMID:9536098|PMID:9620772 12332355 EXT1 exostosin glycosyltransferase 1 gene DOID:2394 ovarian cancer ISO RGD:1313966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 12332355 EXT1 exostosin glycosyltransferase 1 gene DOID:3371 chondrosarcoma ISO RGD:1313966 D RGD:7240710 20180130 OMIM 12332355 EXT1 exostosin glycosyltransferase 1 gene DOID:3371 chondrosarcoma ISO RGD:1313966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chondrosarcoma PMID:10679937|PMID:11170095|PMID:11391482|PMID:15586175|PMID:17301954|PMID:18165274|PMID:19810120|PMID:25468659|PMID:25541963|PMID:25741868|PMID:28492532|PMID:8981950|PMID:9521425 12332355 EXT1 exostosin glycosyltransferase 1 gene DOID:4624 Ollier disease ISO RGD:1313966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: OSTEOCHONDROMATOSIS PMID:10639137|PMID:10679296|PMID:10679937|PMID:10713884|PMID:11391482|PMID:11432960|PMID:15253765|PMID:16088908|PMID:16199547|PMID:16283885|PMID:17041877|PMID:18165274|PMID:18330718|PMID:19810120|PMID:20418910|PMID:22258776|PMID:23262345|PMID:23439489|PMID:24532482|PMID:25230886|PMID:25468659|PMID:25741868|PMID:26239617|PMID:26515642|PMID:26961984|PMID:28492532|PMID:29126381|PMID:29529714|PMID:30334991|PMID:30806661|PMID:7550340|PMID:8981950|PMID:9326317|PMID:9463333|PMID:9521425|PMID:9620772 12332355 EXT1 exostosin glycosyltransferase 1 gene DOID:4998 trichorhinophalangeal syndrome type II ISO RGD:1313966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Langer-Giedion syndrome PMID:17301954|PMID:24728327|PMID:28492532 12332355 EXT1 exostosin glycosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1313966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10639137|PMID:10679296|PMID:11391482|PMID:11432960|PMID:16283885|PMID:18165274|PMID:18330718|PMID:19810120|PMID:20418910|PMID:22258776|PMID:23262345|PMID:25230886|PMID:25741868|PMID:26239617|PMID:26961984|PMID:28492532|PMID:8981950|PMID:9326317|PMID:9463333|PMID:9521425|PMID:9620772 12332355 EXT1 exostosin glycosyltransferase 1 gene DOID:9002644 Premature Aging ISO RGD:1587375 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain (rat) PMID:22339633|REF_RGD_ID:13208511 12332355 EXT1 exostosin glycosyltransferase 1 gene DOID:9003050 Multiple Exostoses Type I ISO RGD:1313966 D RGD:7240710 20180130 OMIM 12332355 EXT1 exostosin glycosyltransferase 1 gene DOID:9003050 Multiple Exostoses Type I ISO RGD:1313966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I PMID:10639137|PMID:10679296|PMID:10679937|PMID:10713884|PMID:11391482|PMID:11432960|PMID:15253765|PMID:16088908|PMID:16199547|PMID:16283885|PMID:17041877|PMID:18165274|PMID:18330718|PMID:19810120|PMID:20418910|PMID:22258776|PMID:23262345|PMID:23439489|PMID:24532482|PMID:25230886|PMID:25468659|PMID:25741868|PMID:26239617|PMID:26515642|PMID:26961984|PMID:28492532|PMID:29126381|PMID:29529714|PMID:30334991|PMID:30806661|PMID:7550340|PMID:8981950|PMID:9326317|PMID:9463333|PMID:9521425|PMID:9620772 12332355 EXT1 exostosin glycosyltransferase 1 gene DOID:9005285 Osteochondromatosis ISO RGD:1313966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: OSTEOCHONDROMATOSIS PMID:10639137|PMID:10679296|PMID:10679937|PMID:10713884|PMID:11391482|PMID:11432960|PMID:15253765|PMID:16088908|PMID:16199547|PMID:16283885|PMID:17041877|PMID:18165274|PMID:18330718|PMID:19810120|PMID:20418910|PMID:22258776|PMID:23262345|PMID:23439489|PMID:24532482|PMID:25230886|PMID:25468659|PMID:25741868|PMID:26239617|PMID:26515642|PMID:26961984|PMID:28492532|PMID:29126381|PMID:29529714|PMID:30334991|PMID:30806661|PMID:7550340|PMID:8981950|PMID:9326317|PMID:9463333|PMID:9521425|PMID:9620772 12332355 EXT1 exostosin glycosyltransferase 1 gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:1313966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 PMID:25741868 12332370 ZNF804B zinc finger protein 804B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12332370 ZNF804B zinc finger protein 804B gene DOID:630 genetic disease ISO RGD:1601814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332381 LRRC4C leucine rich repeat containing 4C gene DOID:1059 intellectual disability ISO RGD:1605967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12332381 LRRC4C leucine rich repeat containing 4C gene DOID:630 genetic disease ISO RGD:1605967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332406 LOC484343 sialic acid-binding Ig-like lectin 10 gene DOID:0080600 COVID-19 ISO RGD:1354413 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12332406 LOC484343 sialic acid-binding Ig-like lectin 10 gene DOID:630 genetic disease ISO RGD:1354413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332424 B3GLCT beta 3-glucosyltransferase gene DOID:0080201 Peters plus syndrome ISO RGD:1604745 D RGD:7240710 20180130 OMIM 12332424 B3GLCT beta 3-glucosyltransferase gene DOID:0080201 Peters plus syndrome ISO RGD:1604745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Peters plus syndrome PMID:16199547|PMID:16909395|PMID:17576681|PMID:18199743|PMID:18798333|PMID:19796186|PMID:20301637|PMID:23161355|PMID:23213277|PMID:23889335|PMID:25741868|PMID:26684045|PMID:28492532|PMID:32204707|PMID:9536098 12332424 B3GLCT beta 3-glucosyltransferase gene DOID:630 genetic disease ISO RGD:1604745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18798333|PMID:19796186|PMID:28492532 12332424 B3GLCT beta 3-glucosyltransferase gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1604745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12332443 GRK5 G protein-coupled receptor kinase 5 gene DOID:10652 Alzheimer's disease ISO RGD:62277 D RGD:9068941 20200609 RGD DNA: deletion: exons 7,8: heterozygote PMID:18522748|REF_RGD_ID:5688375 12332443 GRK5 G protein-coupled receptor kinase 5 gene DOID:10763 hypertension ISO RGD:61985 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle, kidney (rat) PMID:26248277|REF_RGD_ID:11535540 12332443 GRK5 G protein-coupled receptor kinase 5 gene DOID:1287 cardiovascular system disease ISO RGD:1348499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26032411 12332443 GRK5 G protein-coupled receptor kinase 5 gene DOID:14330 Parkinson's disease ISO RGD:1348499 D RGD:9068941 20200609 RGD protein: decreased expression: brain PMID:17125886|REF_RGD_ID:5688384 12332443 GRK5 G protein-coupled receptor kinase 5 gene DOID:14330 Parkinson's disease ISO RGD:61985 D RGD:9068941 20200609 RGD protein: decreased expression: brain PMID:17996024|REF_RGD_ID:5685370 12332443 GRK5 G protein-coupled receptor kinase 5 gene DOID:14330 Parkinson's disease no_association ISO RGD:1348499 D RGD:9068941 20211126 RGD DNA: snps: :rs871196, rs2420616, rs7069375, rs4752293 PMID:21184589|REF_RGD_ID:5688382 12332443 GRK5 G protein-coupled receptor kinase 5 gene DOID:2320 obstructive lung disease ISO RGD:62277 D RGD:9068941 20200609 RGD PMID:14565944|REF_RGD_ID:5688385 12332443 GRK5 G protein-coupled receptor kinase 5 gene DOID:409 liver disease ISO RGD:1348499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12332443 GRK5 G protein-coupled receptor kinase 5 gene DOID:6000 congestive heart failure ISO RGD:1348499 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:26248277|REF_RGD_ID:11535540 12332443 GRK5 G protein-coupled receptor kinase 5 gene DOID:6000 congestive heart failure severity ISO RGD:1348499 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle (human) PMID:22685168|REF_RGD_ID:13506835 12332443 GRK5 G protein-coupled receptor kinase 5 gene DOID:630 genetic disease ISO RGD:1348499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332443 GRK5 G protein-coupled receptor kinase 5 gene DOID:7148 rheumatoid arthritis no_association ISO RGD:1348499 D RGD:9068941 20200609 RGD protein: : mononuclear blood cells PMID:10094932|REF_RGD_ID:5688380 12332443 GRK5 G protein-coupled receptor kinase 5 gene DOID:7148 rheumatoid arthritis no_association ISO RGD:62277 D RGD:9068941 20200609 RGD DNA: deletion::GRK2 and GRK6 deletions resulted in more severe arthritis PMID:18662895|REF_RGD_ID:5688373 12332443 GRK5 G protein-coupled receptor kinase 5 gene DOID:9004484 Sepsis ISO RGD:1348499 D RGD:9068941 20200609 RGD protein: increased expression: neutrophils PMID:16849637|REF_RGD_ID:5688378 12332443 GRK5 G protein-coupled receptor kinase 5 gene DOID:9005372 Inflammation ISO RGD:62277 D RGD:9068941 20200609 RGD DNA: deletions PMID:20945396|REF_RGD_ID:5688355 12332443 GRK5 G protein-coupled receptor kinase 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1348499 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex (human) PMID:23727505|REF_RGD_ID:13792719 12332443 GRK5 G protein-coupled receptor kinase 5 gene DOID:9006281 Temporomandibular Joint Disorders ISO RGD:1348499 D RGD:9068941 20200609 RGD DNA: SNP: rs12415832 PMID:22074755|REF_RGD_ID:5688353 12332470 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:0050868 hepatocellular adenoma ameliorates ISO RGD:731489 D RGD:9068941 20220224 RGD PMID:26560698|REF_RGD_ID:11342977 12332470 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:10534 stomach cancer ameliorates ISO RGD:731488 D RGD:9068941 20220224 RGD PMID:23828905|REF_RGD_ID:151356998 12332470 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:731488 D RGD:9068941 20220224 RGD protein:increased activity:serum: PMID:28724746|REF_RGD_ID:151356966 12332470 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:13208 background diabetic retinopathy ISO RGD:731488 D RGD:9068941 20220224 RGD protein:increased activity:serum: PMID:28724746|REF_RGD_ID:151356966 12332470 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:1324 lung cancer exacerbates ISO RGD:731489 D RGD:9068941 20220224 RGD PMID:26300007|REF_RGD_ID:11535492 12332470 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:1612 breast cancer ISO RGD:731488 D RGD:9068941 20220217 RGD PMID:10490831|REF_RGD_ID:151356925 12332470 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731488 D RGD:9068941 20220224 RGD PMID:23533274|PMID:28393206|REF_RGD_ID:151356965|REF_RGD_ID:151356978 12332470 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:731489 D RGD:9068941 20220224 RGD PMID:23533274|REF_RGD_ID:151356978 12332470 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:4467 clear cell renal cell carcinoma ameliorates ISO RGD:731488 D RGD:9068941 20220224 RGD PMID:23982215|REF_RGD_ID:151356974 12332470 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:731488 D RGD:9068941 20220224 RGD PMID:23982215|REF_RGD_ID:151356974 12332470 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:630 genetic disease ISO RGD:731488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12332470 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:731489 D RGD:9068941 20220224 RGD PMID:26560698|REF_RGD_ID:11342977 12332470 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9000371 influenza A exacerbates ISO RGD:731489 D RGD:9068941 20220224 RGD PMID:26241898|REF_RGD_ID:11055126 12332470 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12332470 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9001642 Intestinal Polyps ISO RGD:10166 D RGD:9068941 20220224 RGD PMID:22451924|REF_RGD_ID:151356977 12332470 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9002245 Intestinal Neoplasms ISO RGD:731489 D RGD:9068941 20220224 RGD PMID:23064365|REF_RGD_ID:151356997 12332470 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9002869 Schistosomiasis Mansoni exacerbates ISO RGD:731489 D RGD:9068941 20220224 RGD PMID:27487182|REF_RGD_ID:151356963 12332470 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9005172 Lung Neoplasms ISO RGD:731488 D RGD:7240710 20180130 OMIM 12332470 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620969 D RGD:9068941 20220224 RGD protein:increased activity:serum: PMID:28724746|REF_RGD_ID:151356966 12332470 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731489 D RGD:9068941 20220224 RGD protein:increased activity:serum: PMID:28724746|REF_RGD_ID:151356966 12332470 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9007102 Myocardial Ischemia ISO RGD:731488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12332470 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9007702 Carcinogenesis ISO RGD:731488 D RGD:9068941 20220217 RGD PMID:15287022|REF_RGD_ID:151356924 12332470 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9007702 Carcinogenesis ISO RGD:731489 D RGD:9068941 20220224 RGD PMID:23533274|REF_RGD_ID:151356978 12332470 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9009121 lung metastasis ameliorates ISO RGD:731488 D RGD:9068941 20220224 RGD associated with clear cell renal cell carcinoma PMID:23982215|REF_RGD_ID:151356974 12332470 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9256 colorectal cancer disease_progression ISO RGD:731488 D RGD:9068941 20220224 RGD PMID:23322277|PMID:29763718|REF_RGD_ID:151356994|REF_RGD_ID:151356995 12332470 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731489 D RGD:9068941 20220224 RGD protein:increased activity:serum: PMID:28724746|REF_RGD_ID:151356966 12332470 MAP3K8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9452 fatty liver disease ameliorates ISO RGD:731489 D RGD:9068941 20220224 RGD PMID:26560698|REF_RGD_ID:11342977 12332490 FBXO22 F-box protein 22 gene DOID:2717 Bloom syndrome ISO RGD:1315406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12332490 FBXO22 F-box protein 22 gene DOID:5419 schizophrenia ISO RGD:1315406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12332490 FBXO22 F-box protein 22 gene DOID:630 genetic disease ISO RGD:1315406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332490 FBXO22 F-box protein 22 gene DOID:9256 colorectal cancer ISO RGD:1315406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12332502 FURIN furin, paired basic amino acid cleaving enzyme gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1323167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12332502 FURIN furin, paired basic amino acid cleaving enzyme gene DOID:2349 arteriosclerosis ISO RGD:1323167 D RGD:9068941 20200609 RGD PMID:15756593|REF_RGD_ID:1582622 12332502 FURIN furin, paired basic amino acid cleaving enzyme gene DOID:2717 Bloom syndrome ISO RGD:1323167 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12332502 FURIN furin, paired basic amino acid cleaving enzyme gene DOID:305 carcinoma ISO RGD:1323167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 12332502 FURIN furin, paired basic amino acid cleaving enzyme gene DOID:3393 coronary artery disease ISO RGD:1323167 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 12332502 FURIN furin, paired basic amino acid cleaving enzyme gene DOID:630 genetic disease ISO RGD:1323167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332502 FURIN furin, paired basic amino acid cleaving enzyme gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1323167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 12332502 FURIN furin, paired basic amino acid cleaving enzyme gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1323167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 12332502 FURIN furin, paired basic amino acid cleaving enzyme gene DOID:9005643 Experimental Diabetes Mellitus disease_progression ISO RGD:3274 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16541018|REF_RGD_ID:1582625 12332522 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0060017 CD3epsilon deficiency ISO RGD:1317575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12332522 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0060796 hypomyelinating leukodystrophy 12 IAGP D RGD:12801476 20210603 OMIA Neuroaxonal dystrophy, VPS11-related PMID:11699565|PMID:3410773|PMID:6698879|PMID:6842267|PMID:29945969 12332522 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0060796 hypomyelinating leukodystrophy 12 ISO RGD:1317575 D RGD:7240710 20190315 OMIM 12332522 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0060796 hypomyelinating leukodystrophy 12 ISO RGD:1317575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 12 PMID:25741868|PMID:26307567|PMID:27120463|PMID:27473128|PMID:28492532|PMID:32316234 12332522 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1317575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12332522 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0080690 RASopathy ISO RGD:1317575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12332522 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0081330 glycogen storage disease Ib ISO RGD:1317575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12332522 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0110651 long QT syndrome 10 ISO RGD:1317575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12332522 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1317575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12332522 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0111971 immunodeficiency 18 ISO RGD:1317575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12332522 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0111972 immunodeficiency 19 ISO RGD:1317575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12332522 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0111973 immunodeficiency 17 ISO RGD:1317575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12332522 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:5419 schizophrenia ISO RGD:1317575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12332522 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:630 genetic disease ISO RGD:1317575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12332522 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:9000126 Dystonia 32 ISO RGD:1317575 D RGD:7240710 20211222 OMIM 12332522 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:9000126 Dystonia 32 ISO RGD:1317575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dystonia 32 PMID:25741868|PMID:28492532|PMID:33452836 12332522 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:9002704 Leukoencephalopathies ISO RGD:1317575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy PMID:25741868|PMID:26307567|PMID:27120463|PMID:32316234 12332522 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1317575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12332522 VPS11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:9007661 Dwarfism ISO RGD:1317575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12332542 RNF167 ring finger protein 167 gene DOID:0050941 spastic ataxia 2 ISO RGD:1348849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 12332542 RNF167 ring finger protein 167 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:1348849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 12332542 RNF167 ring finger protein 167 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1348849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect 12332542 RNF167 ring finger protein 167 gene DOID:630 genetic disease ISO RGD:1348849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332557 YBX2 Y-box binding protein 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1606288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12332557 YBX2 Y-box binding protein 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1606288 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12332557 YBX2 Y-box binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1606288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12332557 YBX2 Y-box binding protein 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1606288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12332557 YBX2 Y-box binding protein 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1606288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12332557 YBX2 Y-box binding protein 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1606288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12332557 YBX2 Y-box binding protein 2 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1606288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12332557 YBX2 Y-box binding protein 2 gene DOID:630 genetic disease ISO RGD:1606288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332570 HMCN2 hemicentin 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1626387 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12332675 RNF128 ring finger protein 128 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12332675 RNF128 ring finger protein 128 gene DOID:1227 neutropenia ISO RGD:1603197 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:25741868 12332675 RNF128 ring finger protein 128 gene DOID:12849 autistic disorder ISO RGD:1603197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12332675 RNF128 ring finger protein 128 gene DOID:630 genetic disease ISO RGD:1603197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1348457 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:0050476 Barth syndrome ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:0050700 cardiomyopathy ISO RGD:1557574 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle PMID:23619365|REF_RGD_ID:7495791 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:0060320 inguinal hernia ISO RGD:1348457 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inguinal hernia PMID:25741868 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1348457 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:10986043|PMID:14560307|PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22476991|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1348457 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:1206 Rett syndrome ISO RGD:1348457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:15712379 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:12849 autistic disorder ISO RGD:1348457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:13628 favism ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:1561 cognitive disorder treatment ISO RGD:1563841 D RGD:9068941 20200609 RGD PMID:22277195|REF_RGD_ID:7495794 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:1580 diffuse scleroderma susceptibility ISO RGD:1348457 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.F196S (rs1059702) (human) PMID:21898345|REF_RGD_ID:7495782 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:1749 squamous cell carcinoma disease_progression ISO RGD:1348457 D RGD:9068941 20200609 RGD PMID:24302991|REF_RGD_ID:7495785 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:2316 brain ischemia ISO RGD:1563841 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:21925238|REF_RGD_ID:7495802 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1348457 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:3393 coronary artery disease ISO RGD:1348457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20524934 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:607 paraplegia ISO RGD:1348457 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:630 genetic disease ISO RGD:1348457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:7147 ankylosing spondylitis susceptibility ISO RGD:1348457 D RGD:9068941 20200609 RGD DNA:SNP:enhancer: (rs3027898) (human) PMID:20500689|REF_RGD_ID:7495783 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1348457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:820 myocarditis ISO RGD:1557574 D RGD:9068941 20200609 RGD PMID:12860565|REF_RGD_ID:1582271 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:8893 psoriasis ISO RGD:1348457 D RGD:9068941 20200609 RGD PMID:23018031|REF_RGD_ID:7495784 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:9002720 Splenomegaly ISO RGD:1348457 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1348457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21925238 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:9005091 Lentivirus Infections ISO RGD:1348457 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26937033 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1563841 D RGD:9068941 20200609 RGD protein:increased activity:ventricle myocardium (rat) PMID:15793310|REF_RGD_ID:1579809 12332689 IRAK1 interleukin 1 receptor associated kinase 1 gene DOID:9008 psoriatic arthritis susceptibility ISO RGD:1348457 D RGD:9068941 20200609 RGD DNA:SNP:enhancer: (rs3027898) (human) PMID:20500689|REF_RGD_ID:7495783 12332707 CD300LG CD300 molecule like family member g gene DOID:630 genetic disease ISO RGD:1601720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332734 C3H4orf48 chromosome 3 C4orf48 homolog gene DOID:1856 cherubism ISO RGD:2301122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12332734 C3H4orf48 chromosome 3 C4orf48 homolog gene DOID:630 genetic disease ISO RGD:2301122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332743 PSRC1 proline and serine rich coiled-coil 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1606488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12332743 PSRC1 proline and serine rich coiled-coil 1 gene DOID:12849 autistic disorder ISO RGD:1606488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12332743 PSRC1 proline and serine rich coiled-coil 1 gene DOID:3393 coronary artery disease ISO RGD:1606488 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 12332743 PSRC1 proline and serine rich coiled-coil 1 gene DOID:630 genetic disease ISO RGD:1606488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332762 ZNF326 zinc finger protein 326 gene DOID:630 genetic disease ISO RGD:1601703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332778 CSTF1 cleavage stimulation factor subunit 1 gene DOID:630 genetic disease ISO RGD:1319516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332801 RAB39B RAB39B, member RAS oncogene family gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354105 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12332801 RAB39B RAB39B, member RAS oncogene family gene DOID:0050476 Barth syndrome ISO RGD:1354105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12332801 RAB39B RAB39B, member RAS oncogene family gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1354105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 12332801 RAB39B RAB39B, member RAS oncogene family gene DOID:0050800 creatine transporter deficiency ISO RGD:1354105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12332801 RAB39B RAB39B, member RAS oncogene family gene DOID:0060309 syndromic X-linked intellectual disability ISO RGD:1623199 D RGD:9068941 20220825 MouseDO 12332801 RAB39B RAB39B, member RAS oncogene family gene DOID:0111781 Waisman syndrome ISO RGD:1354105 D RGD:7240710 20180130 OMIM 12332801 RAB39B RAB39B, member RAS oncogene family gene DOID:0111781 Waisman syndrome ISO RGD:1354105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Basal ganglia disorder with mental retardation | ClinVar Annotator: match by term: Early-onset parkinsonism-intellectual disability syndrome PMID:1674730|PMID:25434005|PMID:25741868|PMID:26399558|PMID:26467025|PMID:4025396 12332801 RAB39B RAB39B, member RAS oncogene family gene DOID:0112003 immunodeficiency 33 ISO RGD:1354105 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12332801 RAB39B RAB39B, member RAS oncogene family gene DOID:0112059 non-syndromic X-linked intellectual disability 72 ISO RGD:1354105 D RGD:7240710 20180130 OMIM 12332801 RAB39B RAB39B, member RAS oncogene family gene DOID:0112059 non-syndromic X-linked intellectual disability 72 ISO RGD:1354105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 72 PMID:11050621|PMID:19377476|PMID:20159109|PMID:25741868|PMID:26467025|PMID:26739247|PMID:28492532 12332801 RAB39B RAB39B, member RAS oncogene family gene DOID:10588 adrenoleukodystrophy ISO RGD:1354105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12332801 RAB39B RAB39B, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1354105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21076407 12332801 RAB39B RAB39B, member RAS oncogene family gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1354105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12332801 RAB39B RAB39B, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:1354105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12332801 RAB39B RAB39B, member RAS oncogene family gene DOID:13628 favism ISO RGD:1354105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12332801 RAB39B RAB39B, member RAS oncogene family gene DOID:1826 epilepsy ISO RGD:1354105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20159109 12332801 RAB39B RAB39B, member RAS oncogene family gene DOID:2729 dyskeratosis congenita ISO RGD:1354105 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12332801 RAB39B RAB39B, member RAS oncogene family gene DOID:607 paraplegia ISO RGD:1354105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12332801 RAB39B RAB39B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1354105 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19377476|PMID:25741868|PMID:26739247|PMID:28492532 12332801 RAB39B RAB39B, member RAS oncogene family gene DOID:9002720 Splenomegaly ISO RGD:1354105 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12332801 RAB39B RAB39B, member RAS oncogene family gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12332801 RAB39B RAB39B, member RAS oncogene family gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1354105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20159109 12332801 RAB39B RAB39B, member RAS oncogene family gene DOID:9006820 Parkinson's Disease, X-Linked Dominant ISO RGD:1354105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, X-linked dominant PMID:26399558 12332801 RAB39B RAB39B, member RAS oncogene family gene DOID:9008582 Developmental Disease ISO RGD:1354105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12332801 RAB39B RAB39B, member RAS oncogene family gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1354105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20159109 12332808 ZGPAT zinc finger CCCH-type and G-patch domain containing gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12332808 ZGPAT zinc finger CCCH-type and G-patch domain containing gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1606771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12332808 ZGPAT zinc finger CCCH-type and G-patch domain containing gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1606771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12332808 ZGPAT zinc finger CCCH-type and G-patch domain containing gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1606771 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12332808 ZGPAT zinc finger CCCH-type and G-patch domain containing gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12332808 ZGPAT zinc finger CCCH-type and G-patch domain containing gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1606771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12332808 ZGPAT zinc finger CCCH-type and G-patch domain containing gene DOID:630 genetic disease ISO RGD:1606771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332818 LOC100855970 protocadherin beta-4 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1312238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12332818 LOC100855970 protocadherin beta-4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1312238 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12332818 LOC100855970 protocadherin beta-4 gene DOID:1826 epilepsy ISO RGD:1312238 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25558065 12332818 LOC100855970 protocadherin beta-4 gene DOID:630 genetic disease ISO RGD:1312238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332818 LOC100855970 protocadherin beta-4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12332818 LOC100855970 protocadherin beta-4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312238 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12332823 CNKSR1 connector enhancer of kinase suppressor of Ras 1 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1323565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 12332823 CNKSR1 connector enhancer of kinase suppressor of Ras 1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1323565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12332823 CNKSR1 connector enhancer of kinase suppressor of Ras 1 gene DOID:0110839 Usher syndrome type 2C ISO RGD:1323565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2C PMID:25741868 12332823 CNKSR1 connector enhancer of kinase suppressor of Ras 1 gene DOID:1059 intellectual disability ISO RGD:1323565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12332823 CNKSR1 connector enhancer of kinase suppressor of Ras 1 gene DOID:630 genetic disease ISO RGD:1323565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332823 CNKSR1 connector enhancer of kinase suppressor of Ras 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323565 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12332858 EDRF1 erythroid differentiation regulatory factor 1 gene DOID:630 genetic disease ISO RGD:1322314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332893 MIR93 microRNA mir-93 gene DOID:11054 urinary bladder cancer ISO RGD:1344413 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 12332893 MIR93 microRNA mir-93 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:1344413 D RGD:9068941 20230202 RGD miRNA:increased expression:vitreous humor (human) PMID:24970617|REF_RGD_ID:155882576 12332893 MIR93 microRNA mir-93 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1344413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12332893 MIR93 microRNA mir-93 gene DOID:3347 osteosarcoma ISO RGD:1344413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22510560 12332893 MIR93 microRNA mir-93 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12332893 MIR93 microRNA mir-93 gene DOID:6000 congestive heart failure ISO RGD:1344413 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12332893 MIR93 microRNA mir-93 gene DOID:684 hepatocellular carcinoma ISO RGD:1344413 D RGD:9068941 20200609 RGD associated with hepatitis B;miRNA:increased expression:liver (human) PMID:27298561|REF_RGD_ID:15042853 12332893 MIR93 microRNA mir-93 gene DOID:684 hepatocellular carcinoma ISO RGD:1608171 D RGD:9068941 20200609 RGD associated with hepatitis B;miRNA:increased expression:liver (human) PMID:27298561|REF_RGD_ID:15042853 12332893 MIR93 microRNA mir-93 gene DOID:684 hepatocellular carcinoma ISO RGD:2325459 D RGD:9068941 20200609 RGD associated with hepatitis B;miRNA:increased expression:liver (human) PMID:27298561|REF_RGD_ID:15042853 12332893 MIR93 microRNA mir-93 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1344413 D RGD:9068941 20200609 RGD miRNA:increased expression:liver (human) PMID:28592130|REF_RGD_ID:15042900 12332893 MIR93 microRNA mir-93 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1608171 D RGD:9068941 20200609 RGD miRNA:increased expression:liver (human) PMID:28592130|REF_RGD_ID:15042900 12332893 MIR93 microRNA mir-93 gene DOID:684 hepatocellular carcinoma severity ISO RGD:2325459 D RGD:9068941 20200609 RGD miRNA:increased expression:liver (human) PMID:28592130|REF_RGD_ID:15042900 12332893 MIR93 microRNA mir-93 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12332893 MIR93 microRNA mir-93 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1344413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22510560 12332893 MIR93 microRNA mir-93 gene DOID:9256 colorectal cancer ISO RGD:1344413 D RGD:9068941 20220908 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12332938 SPATA22 spermatogenesis associated 22 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1606760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:28492532 12332938 SPATA22 spermatogenesis associated 22 gene DOID:0111708 focal nonepidermolytic palmoplantar keratoderma ISO RGD:1606760 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma 12332938 SPATA22 spermatogenesis associated 22 gene DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques ISO RGD:1606760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Olmsted syndrome 1 12332938 SPATA22 spermatogenesis associated 22 gene DOID:1059 intellectual disability ISO RGD:1606760 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28101991|PMID:28492532|PMID:29453510 12332938 SPATA22 spermatogenesis associated 22 gene DOID:3613 Canavan disease ISO RGD:1606760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Canavan Disease, Familial Form | ClinVar Annotator: match by term: Mild Canavan disease | ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10407784|PMID:10564886|PMID:10701101|PMID:10704428|PMID:10724099|PMID:10909858|PMID:11238686|PMID:12205125|PMID:12638939|PMID:14567959|PMID:15243987|PMID:16138249|PMID:16199547|PMID:16217711|PMID:16437572|PMID:16802711|PMID:16854607|PMID:17027983|PMID:17194761|PMID:17391648|PMID:17576681|PMID:17999961|PMID:18070137|PMID:18978679|PMID:19685155|PMID:20129749|PMID:20301412|PMID:21228398|PMID:21520333|PMID:21907889|PMID:22019069|PMID:22219087|PMID:22611636|PMID:22750302|PMID:22850825|PMID:22878930|PMID:23233226|PMID:23253610|PMID:23971085|PMID:24033266|PMID:24036223|PMID:25003821|PMID:25107638|PMID:25668701|PMID:25741868|PMID:26586007|PMID:26992473|PMID:27457812|PMID:27531131|PMID:27927234|PMID:28101991|PMID:28492532|PMID:29453510|PMID:31839386|PMID:32403196|PMID:33547378|PMID:34011350|PMID:34316023|PMID:7599639|PMID:7668285|PMID:8023850|PMID:8037206|PMID:8088831|PMID:8252036|PMID:8659549|PMID:9452117|PMID:9536098|PMID:9887384 12332938 SPATA22 spermatogenesis associated 22 gene DOID:630 genetic disease ISO RGD:1606760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10407784|PMID:10909858|PMID:11238686|PMID:12205125|PMID:12638939|PMID:16217711|PMID:16437572|PMID:16854607|PMID:17027983|PMID:17194761|PMID:17391648|PMID:18070137|PMID:18293939|PMID:20301412|PMID:21228398|PMID:22750302|PMID:22850825|PMID:23233226|PMID:23253610|PMID:23971085|PMID:24033266|PMID:25003821|PMID:25107638|PMID:25668701|PMID:25741868|PMID:26586007|PMID:27531131|PMID:27927234|PMID:28101991|PMID:28492532|PMID:34011350|PMID:7668285|PMID:8023850|PMID:8037206|PMID:8088831|PMID:8252036|PMID:8659549|PMID:9887384 12332974 GALK1 galactokinase 1 gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:1313365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia PMID:10484780|PMID:11328943|PMID:11886501|PMID:12485428|PMID:18955862|PMID:20301304|PMID:23496044|PMID:25741868|PMID:28492532|PMID:9792864|PMID:9892956 12332974 GALK1 galactokinase 1 gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:1313365 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia PMID:10484780|PMID:11328943|PMID:11886501|PMID:12485428|PMID:17576681|PMID:18955862|PMID:20301304|PMID:23496044|PMID:25741868|PMID:28492532|PMID:9536098|PMID:9792864|PMID:9892956 12332974 GALK1 galactokinase 1 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:1313365 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:25741868|PMID:28492532 12332974 GALK1 galactokinase 1 gene DOID:0080600 COVID-19 ISO RGD:1313365 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12332974 GALK1 galactokinase 1 gene DOID:14695 galactokinase deficiency ISO RGD:1313365 D RGD:7240710 20180130 OMIM 12332974 GALK1 galactokinase 1 gene DOID:14695 galactokinase deficiency ISO RGD:1313365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of galactokinase PMID:10521295|PMID:10570908|PMID:10790206|PMID:11139256|PMID:11231902|PMID:11978883|PMID:11978884|PMID:12647253|PMID:12694189|PMID:12796487|PMID:12942049|PMID:14596685|PMID:15024738|PMID:15322984|PMID:15590630|PMID:16199547|PMID:17517531|PMID:17576681|PMID:19309526|PMID:20405025|PMID:21264483|PMID:21290184|PMID:22632133|PMID:25741868|PMID:27307692|PMID:27334249|PMID:28173647|PMID:28418495|PMID:28429145|PMID:28468868|PMID:28492532|PMID:28672748|PMID:29505688|PMID:29770612|PMID:29893426|PMID:32807972|PMID:33562227|PMID:33763395|PMID:7670469|PMID:9536098 12332974 GALK1 galactokinase 1 gene DOID:630 genetic disease ISO RGD:1313365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12332974 GALK1 galactokinase 1 gene DOID:83 cataract ISO RGD:1313365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7670469 12332974 GALK1 galactokinase 1 gene DOID:83 cataract ISO RGD:1313365 D RGD:9068941 20200609 RGD DNA:missense mutation, nonsense mutation:cds:p.V32M, p.E80X (human) PMID:7670469|REF_RGD_ID:1300192 12332974 GALK1 galactokinase 1 gene DOID:9002684 Localized Epidermolysis Bullosa Simplex 1C ISO RGD:1313365 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized PMID:25741868|PMID:28492532 12332974 GALK1 galactokinase 1 gene DOID:9003431 Junctional Epidermolysis Bullosa 5A, Intermediate ISO RGD:1313365 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 5A, intermediate PMID:12485428|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|PMID:9546354|PMID:9892956 12332974 GALK1 galactokinase 1 gene DOID:9870 galactosemia ISO RGD:1313365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7670469 12332991 ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3 gene DOID:0080600 COVID-19 ISO RGD:1344691 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12332991 ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3 gene DOID:630 genetic disease ISO RGD:1344691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12332991 ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3 gene DOID:9006958 Generalized Arterial Calcification of Infancy, 1 ISO RGD:1344691 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 12332991 ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3 gene DOID:9278 hyperargininemia ISO RGD:1344691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginase deficiency PMID:28492532 12333033 FGG fibrinogen gamma chain gene DOID:0060903 thrombosis ISO RGD:731481 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Thrombus PMID:10688828|PMID:15795540|PMID:21228398|PMID:24033266|PMID:25741868|PMID:26105150|PMID:28211264|PMID:28492532|PMID:29240685|PMID:30349899|PMID:30431218|PMID:30487145|PMID:30632992|PMID:31064749|PMID:31295712|PMID:31479941|PMID:33477601 12333033 FGG fibrinogen gamma chain gene DOID:0112313 brain small vessel disease ISO RGD:731481 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes PMID:17951283|REF_RGD_ID:5688761 12333033 FGG fibrinogen gamma chain gene DOID:1247 blood coagulation disease ISO RGD:731481 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fibrinogen Milano XII, digenic PMID:11435303|PMID:25741868|PMID:28492532|PMID:31064749|PMID:34355501 12333033 FGG fibrinogen gamma chain gene DOID:1588 thrombocytopenia ISO RGD:731481 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10688828|PMID:15795540|PMID:21228398|PMID:24033266|PMID:25741868|PMID:26105150|PMID:28211264|PMID:28492532|PMID:29240685|PMID:30349899|PMID:30431218|PMID:30487145|PMID:30632992|PMID:31064749|PMID:31295712|PMID:31479941|PMID:33477601 12333033 FGG fibrinogen gamma chain gene DOID:2213 hemorrhagic disease ISO RGD:731481 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10688828|PMID:15795540|PMID:21228398|PMID:23560673|PMID:24033266|PMID:24556703|PMID:25741868|PMID:26105150|PMID:28211264|PMID:28492532|PMID:29240685|PMID:30349899|PMID:30418131|PMID:30431218|PMID:30487145|PMID:30632992|PMID:31064749|PMID:31295712|PMID:31479941|PMID:33477601 12333033 FGG fibrinogen gamma chain gene DOID:2236 congenital afibrinogenemia ISO RGD:731481 D RGD:7240710 20180130 OMIM 12333033 FGG fibrinogen gamma chain gene DOID:2236 congenital afibrinogenemia ISO RGD:731481 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: FIBRINOGEN PARIS 1 | ClinVar Annotator: match by term: Hypofibrinogenemia PMID:10688828|PMID:10911375|PMID:11001902|PMID:11001903|PMID:11435303|PMID:1249208|PMID:1471077|PMID:15795540|PMID:16144795|PMID:1733971|PMID:17854317|PMID:21228398|PMID:21725578|PMID:23560673|PMID:24033266|PMID:24556703|PMID:2512677|PMID:25320241|PMID:25741868|PMID:26105150|PMID:2617471|PMID:28211264|PMID:28492532|PMID:29240685|PMID:29351094|PMID:2971042|PMID:2976995|PMID:30349899|PMID:30418131|PMID:30431218|PMID:30487145|PMID:30632992|PMID:31064749|PMID:31295712|PMID:31479941|PMID:3337908|PMID:33477601|PMID:34355501|PMID:3563970|PMID:4002201|PMID:4427684|PMID:6654188|PMID:6886002|PMID:7635941|PMID:7654933|PMID:8470043 12333033 FGG fibrinogen gamma chain gene DOID:2945 severe acute respiratory syndrome ISO RGD:10586 D RGD:9068941 20200625 RGD protein:increased expression:lung (mouse) PMID:23919993|REF_RGD_ID:30310231 12333033 FGG fibrinogen gamma chain gene DOID:4989 pancreatitis ISO RGD:2613 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, rough endoplasmic reticulum PMID:19954227|REF_RGD_ID:5688770 12333033 FGG fibrinogen gamma chain gene DOID:630 genetic disease ISO RGD:731481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10613648|PMID:18832913|PMID:3160702|PMID:7740487 12333033 FGG fibrinogen gamma chain gene DOID:9000058 Keloid ISO RGD:731481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12333033 FGG fibrinogen gamma chain gene DOID:9000217 Stomach Neoplasms ISO RGD:731481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 12333033 FGG fibrinogen gamma chain gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:731481 D RGD:9068941 20200609 RGD PMID:17038160|REF_RGD_ID:11352673 12333033 FGG fibrinogen gamma chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2613 D RGD:9068941 20200609 RGD mRNA:increased expression PMID:17054587|REF_RGD_ID:1599810 12333033 FGG fibrinogen gamma chain gene DOID:9003121 Thromboembolism ISO RGD:731481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thromboembolism PMID:25741868|PMID:31064749 12333033 FGG fibrinogen gamma chain gene DOID:9003464 Congenital Dysfibrinogenemia ISO RGD:731481 D RGD:7240710 20180130 OMIM 12333033 FGG fibrinogen gamma chain gene DOID:9003464 Congenital Dysfibrinogenemia ISO RGD:731481 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Dysfibrinogenemia | ClinVar Annotator: match by term: Dysfibrinogenemia, congenital | ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 3 PMID:10911375|PMID:11435303|PMID:1733971|PMID:19923982|PMID:19949684|PMID:22836217|PMID:2328317|PMID:2496144|PMID:2512677|PMID:25741868|PMID:2617471|PMID:28492532|PMID:29351094|PMID:2971042|PMID:2976995|PMID:31064749|PMID:3175983|PMID:3337908|PMID:34355501|PMID:3563970|PMID:4002201|PMID:6654188|PMID:6886002|PMID:7635941|PMID:7654933 12333033 FGG fibrinogen gamma chain gene DOID:9004929 Congenital Hypodysfibrinogenemia ISO RGD:731481 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FIBRINOGEN HAIFA 1 | ClinVar Annotator: match by term: FIBRINOGEN TOKYO 2 | ClinVar Annotator: match by term: Hypodysfibrinogenemia PMID:10911375|PMID:11344575|PMID:15632207|PMID:1733971|PMID:2512677|PMID:25741868|PMID:2617471|PMID:29351094|PMID:2971042|PMID:2976995|PMID:31064749|PMID:3337908|PMID:34355501|PMID:3563970|PMID:4002201|PMID:6654188|PMID:6886002|PMID:7635941|PMID:7654933 12333033 FGG fibrinogen gamma chain gene DOID:9005372 Inflammation treatment ISO RGD:2613 D RGD:9068941 20200609 RGD PMID:11490095|REF_RGD_ID:11352805 12333033 FGG fibrinogen gamma chain gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2613 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney PMID:21685370|REF_RGD_ID:7175292 12333033 FGG fibrinogen gamma chain gene DOID:9007096 Stroke susceptibility ISO RGD:731481 D RGD:9068941 20200609 RGD DNA:SNP:promoter:902A>G (rs1800792) (human) PMID:18278190|REF_RGD_ID:5688760 12333033 FGG fibrinogen gamma chain gene DOID:9008217 Hemorrhage ISO RGD:731481 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hemorrhage PMID:25741868 12333033 FGG fibrinogen gamma chain gene DOID:9008691 Liver Injury ISO RGD:2613 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:26314240|REF_RGD_ID:11352697 12333033 FGG fibrinogen gamma chain gene DOID:9352 type 2 diabetes mellitus ISO RGD:731481 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:7974333|REF_RGD_ID:2312416 12333033 FGG fibrinogen gamma chain gene DOID:9477 pulmonary embolism ISO RGD:2613 D RGD:9068941 20200609 RGD protein:increased expression:blood microparticle PMID:22014850|REF_RGD_ID:5688769 12333033 FGG fibrinogen gamma chain gene DOID:9538 multiple myeloma treatment ISO RGD:731481 D RGD:9068941 20200609 RGD PMID:22348216|REF_RGD_ID:11040544 12333033 FGG fibrinogen gamma chain gene DOID:9970 obesity ISO RGD:2613 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:22134356|REF_RGD_ID:11352709 12333050 FOXJ1 forkhead box J1 gene DOID:0050144 Kartagener syndrome ISO RGD:732359 D RGD:9068941 20220825 MouseDO 12333050 FOXJ1 forkhead box J1 gene DOID:0111856 primary ciliary dyskinesia 43 ISO RGD:732358 D RGD:7240710 20200101 OMIM 12333050 FOXJ1 forkhead box J1 gene DOID:0111856 primary ciliary dyskinesia 43 ISO RGD:732358 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 43 PMID:25741868|PMID:31630787|PMID:33077954 12333050 FOXJ1 forkhead box J1 gene DOID:630 genetic disease ISO RGD:732358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333050 FOXJ1 forkhead box J1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:732359 D RGD:9068941 20220825 MouseDO 12333059 POLR2I RNA polymerase II subunit I gene DOID:0110222 Brugada syndrome 5 ISO RGD:1319717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12333059 POLR2I RNA polymerase II subunit I gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1319717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12333059 POLR2I RNA polymerase II subunit I gene DOID:630 genetic disease ISO RGD:1319717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333069 CARF calcium responsive transcription factor gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1315654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12333069 CARF calcium responsive transcription factor gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1315654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12333069 CARF calcium responsive transcription factor gene DOID:14557 primary pulmonary hypertension ISO RGD:1315654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12333069 CARF calcium responsive transcription factor gene DOID:3393 coronary artery disease ISO RGD:1315654 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 12333069 CARF calcium responsive transcription factor gene DOID:630 genetic disease ISO RGD:1315654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333069 CARF calcium responsive transcription factor gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1315654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12333069 CARF calcium responsive transcription factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12333069 CARF calcium responsive transcription factor gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1315654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12333122 MELK maternal embryonic leucine zipper kinase gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1319059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12333122 MELK maternal embryonic leucine zipper kinase gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1319059 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12333122 MELK maternal embryonic leucine zipper kinase gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1319059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12333122 MELK maternal embryonic leucine zipper kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12333122 MELK maternal embryonic leucine zipper kinase gene DOID:630 genetic disease ISO RGD:1319059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333122 MELK maternal embryonic leucine zipper kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1319059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12333122 MELK maternal embryonic leucine zipper kinase gene DOID:9562 primary ciliary dyskinesia ISO RGD:1319059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12333122 MELK maternal embryonic leucine zipper kinase gene DOID:9870 galactosemia ISO RGD:1319059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12333144 OR2L17 olfactory receptor family 2 subfamily L member 17 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1349762 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12333144 OR2L17 olfactory receptor family 2 subfamily L member 17 gene DOID:1540 parathyroid carcinoma ISO RGD:1349762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12333144 OR2L17 olfactory receptor family 2 subfamily L member 17 gene DOID:630 genetic disease ISO RGD:1349762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333144 OR2L17 olfactory receptor family 2 subfamily L member 17 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12333144 OR2L17 olfactory receptor family 2 subfamily L member 17 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12333147 ASIC3 acid sensing ion channel subunit 3 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1353665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 12333147 ASIC3 acid sensing ion channel subunit 3 gene DOID:2843 long QT syndrome ISO RGD:1353665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 12333147 ASIC3 acid sensing ion channel subunit 3 gene DOID:630 genetic disease ISO RGD:1353665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333147 ASIC3 acid sensing ion channel subunit 3 gene DOID:9005372 Inflammation ISO RGD:1353665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11588175 12333164 SOGA3 SOGA family member 3 gene DOID:630 genetic disease ISO RGD:1347447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333164 SOGA3 SOGA family member 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1347447 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12333184 ACP4 acid phosphatase 4 gene DOID:0080953 amelogenesis imperfecta type 1J ISO RGD:1317948 D RGD:7240710 20190315 OMIM 12333184 ACP4 acid phosphatase 4 gene DOID:0080953 amelogenesis imperfecta type 1J ISO RGD:1317948 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J PMID:25741868|PMID:27843125|PMID:28513613 12333184 ACP4 acid phosphatase 4 gene DOID:2187 amelogenesis imperfecta ISO RGD:1317948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta PMID:27843125 12333184 ACP4 acid phosphatase 4 gene DOID:630 genetic disease ISO RGD:1317948 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333202 PADI6 peptidyl arginine deiminase 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1354366 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12333202 PADI6 peptidyl arginine deiminase 6 gene DOID:5426 primary ovarian insufficiency ISO RGD:1354366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:31042289 12333202 PADI6 peptidyl arginine deiminase 6 gene DOID:630 genetic disease ISO RGD:1354366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333202 PADI6 peptidyl arginine deiminase 6 gene DOID:9000708 Oocyte/Zygote/Embryo Maturation Arrest 16 ISO RGD:1354366 D RGD:7240710 20190315 OMIM 12333202 PADI6 peptidyl arginine deiminase 6 gene DOID:9000708 Oocyte/Zygote/Embryo Maturation Arrest 16 ISO RGD:1354366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Preimplantation embryonic lethality 2 PMID:25741868|PMID:27545678|PMID:34987164 12333222 NEO1 neogenin 1 gene DOID:0080600 COVID-19 ISO RGD:733424 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12333222 NEO1 neogenin 1 gene DOID:0110225 Brugada syndrome 8 ISO RGD:733424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 12333222 NEO1 neogenin 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:733424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12333222 NEO1 neogenin 1 gene DOID:2717 Bloom syndrome ISO RGD:733424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12333222 NEO1 neogenin 1 gene DOID:3320 Tay-Sachs disease ISO RGD:733424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 12333222 NEO1 neogenin 1 gene DOID:5419 schizophrenia ISO RGD:733424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12333222 NEO1 neogenin 1 gene DOID:630 genetic disease ISO RGD:733424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333222 NEO1 neogenin 1 gene DOID:9002560 Penetrating Eye Injuries ISO RGD:619837 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:21887516|REF_RGD_ID:9850142 12333222 NEO1 neogenin 1 gene DOID:9008091 Optic Nerve Injuries ISO RGD:619837 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:21887516|REF_RGD_ID:9850142 12333222 NEO1 neogenin 1 gene DOID:9256 colorectal cancer ISO RGD:733424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12333264 POLG2 DNA polymerase gamma 2, accessory subunit gene DOID:0111525 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ISO RGD:1312978 D RGD:7240710 20180130 OMIM 12333264 POLG2 DNA polymerase gamma 2, accessory subunit gene DOID:0111525 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ISO RGD:1312978 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 PMID:16685652|PMID:21555342|PMID:22155748|PMID:22176657|PMID:23197651|PMID:23596069|PMID:24033266|PMID:25741868|PMID:26123486|PMID:26251896|PMID:27535533|PMID:27592148|PMID:28078310|PMID:28492532|PMID:29625556|PMID:30157269 12333264 POLG2 DNA polymerase gamma 2, accessory subunit gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:1312978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions PMID:21555342|PMID:25741868|PMID:28492532 12333264 POLG2 DNA polymerase gamma 2, accessory subunit gene DOID:12679 nephrocalcinosis ISO RGD:1312979 D RGD:9068941 20220825 MouseDO 12333264 POLG2 DNA polymerase gamma 2, accessory subunit gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1312978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 12333264 POLG2 DNA polymerase gamma 2, accessory subunit gene DOID:2476 hereditary spastic paraplegia ISO RGD:1312978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:21555342|PMID:22155748|PMID:22176657|PMID:23197651|PMID:23596069|PMID:24033266|PMID:25741868|PMID:26123486|PMID:26251896|PMID:27535533|PMID:28492532|PMID:31286721 12333264 POLG2 DNA polymerase gamma 2, accessory subunit gene DOID:630 genetic disease ISO RGD:1312978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12333264 POLG2 DNA polymerase gamma 2, accessory subunit gene DOID:9002169 MITOCHONDRIAL DNA DEPLETION SYNDROME 16B ISO RGD:1312978 D RGD:7240710 20210825 OMIM 12333264 POLG2 DNA polymerase gamma 2, accessory subunit gene DOID:9002169 MITOCHONDRIAL DNA DEPLETION SYNDROME 16B ISO RGD:1312978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) PMID:25741868|PMID:28492532 12333264 POLG2 DNA polymerase gamma 2, accessory subunit gene DOID:9004590 Acute Liver Failure ISO RGD:1312978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute hepatic failure PMID:25741868|PMID:27592148|PMID:28492532|PMID:30157269 12333264 POLG2 DNA polymerase gamma 2, accessory subunit gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1312979 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:retina,mitochondrion: PMID:22229649|REF_RGD_ID:8694187 12333264 POLG2 DNA polymerase gamma 2, accessory subunit gene DOID:9008345 Mitochondrial DNA Depletion Syndrome 16 ISO RGD:1312978 D RGD:7240710 20190904 OMIM 12333264 POLG2 DNA polymerase gamma 2, accessory subunit gene DOID:9008345 Mitochondrial DNA Depletion Syndrome 16 ISO RGD:1312978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 16 (hepatic type) PMID:25741868|PMID:28492532 12333287 COL9A2 collagen type IX alpha 2 chain gene DOID:0070298 multiple epiphyseal dysplasia 2 ISO RGD:1315981 D RGD:7240710 20180130 OMIM 12333287 COL9A2 collagen type IX alpha 2 chain gene DOID:0070298 multiple epiphyseal dysplasia 2 ISO RGD:1315981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 2 PMID:10364514|PMID:11565064|PMID:12244547|PMID:15633184|PMID:17576681|PMID:20358595|PMID:21671392|PMID:21922596|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29026132|PMID:30311386|PMID:3238439|PMID:33356723|PMID:8528240|PMID:9536098 12333287 COL9A2 collagen type IX alpha 2 chain gene DOID:0080046 Stickler syndrome ISO RGD:1315981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stickler syndrome PMID:28492532|PMID:30311386|PMID:31896775 12333287 COL9A2 collagen type IX alpha 2 chain gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1315981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12333287 COL9A2 collagen type IX alpha 2 chain gene DOID:1059 intellectual disability ISO RGD:1315981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12333287 COL9A2 collagen type IX alpha 2 chain gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:1315981 D RGD:9068941 20200609 RGD DNA:splice-site mutation PMID:8528240|REF_RGD_ID:1600952 12333287 COL9A2 collagen type IX alpha 2 chain gene DOID:630 genetic disease ISO RGD:1315981 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12333287 COL9A2 collagen type IX alpha 2 chain gene DOID:65 connective tissue disease ISO RGD:1315981 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:11565064|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29026132 12333287 COL9A2 collagen type IX alpha 2 chain gene DOID:9002691 Stickler Syndrome, Type V IAGP D RGD:12801476 20210901 OMIA Oculoskeletal dysplasia 2 PMID:20686772|PMID:12002589|PMID:22065099|PMID:31746146 12333287 COL9A2 collagen type IX alpha 2 chain gene DOID:9002691 Stickler Syndrome, Type V ISO RGD:1315981 D RGD:7240710 20180130 OMIM 12333287 COL9A2 collagen type IX alpha 2 chain gene DOID:9002691 Stickler Syndrome, Type V ISO RGD:1315981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stickler syndrome, type 5 PMID:20301479|PMID:21671392|PMID:25741868|PMID:28492532|PMID:30311386|PMID:33356723 12333287 COL9A2 collagen type IX alpha 2 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:1315981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12333323 EID1 EP300 interacting inhibitor of differentiation 1 gene DOID:2717 Bloom syndrome ISO RGD:1348426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12333323 EID1 EP300 interacting inhibitor of differentiation 1 gene DOID:630 genetic disease ISO RGD:1348426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333323 EID1 EP300 interacting inhibitor of differentiation 1 gene DOID:9003566 Mesothelioma ISO RGD:1348426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15920167 12333323 EID1 EP300 interacting inhibitor of differentiation 1 gene DOID:9256 colorectal cancer ISO RGD:1348426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12333328 MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1350157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:12192017|PMID:15781840|PMID:1857422|PMID:9854792 12333328 MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:10652 Alzheimer's disease ISO RGD:1350157 D RGD:9068941 20200609 RGD DNA:mutation::m.5460G>A PMID:1370613|REF_RGD_ID:5507834 12333328 MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:10652 Alzheimer's disease no_association ISO RGD:1350157 D RGD:9068941 20200609 RGD DNA:mutation::m.5460G>A PMID:1352971|REF_RGD_ID:5507833 12333328 MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:11054 urinary bladder cancer ISO RGD:1350157 D RGD:9068941 20200609 RGD DNA:deletion: :(human) PMID:15254717|REF_RGD_ID:2302294 12333328 MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:14330 Parkinson's disease ISO RGD:1350157 D RGD:9068941 20200609 RGD DNA:missense mutation::m.5460G>A PMID:10737123|REF_RGD_ID:5507832 12333328 MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:14330 Parkinson's disease ISO RGD:1350157 D RGD:9068941 20200609 RGD DNA:point mutation: :m.5460G>A (human) PMID:8723226|REF_RGD_ID:2302313 12333328 MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:1826 epilepsy ISO RGD:1350157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28027978 12333328 MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:2377 multiple sclerosis ISO RGD:1350157 D RGD:9068941 20200609 RGD DNA:SNP::m.4917A>G PMID:18708297|REF_RGD_ID:5490259 12333328 MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:3652 Leigh disease ISO RGD:1350157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:11479733|PMID:11820805|PMID:12406974|PMID:15286228|PMID:16738010|PMID:18682780|PMID:1900003|PMID:19370763|PMID:20301353|PMID:25741868|PMID:28187756|PMID:29481798|PMID:30143805 12333328 MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:5844 myocardial infarction ISO RGD:1350157 D RGD:9068941 20200609 RGD DNA:missense mutation: :m.5178C>A (p.L237M) (human) PMID:15262184|REF_RGD_ID:1581054 12333328 MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:700 mitochondrial metabolism disease ISO RGD:1350157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease 12333328 MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1350157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber optic atrophy PMID:11479733|PMID:1732158|PMID:1900003|PMID:20301353|PMID:30143805 12333328 MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:9005950 Orthostatic Hypotension ISO RGD:1350157 D RGD:9068941 20200609 RGD PMID:10449650|REF_RGD_ID:1581056 12333328 MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:9007525 Leigh Syndrome Due To Mitochondrial Complex I Deficiency ISO RGD:1350157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome due to mitochondrial complex I deficiency PMID:16738010 12333328 MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:9007527 Mitochondrial Myopathy, Infantile, Transient ISO RGD:1350157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1323132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:0060903 thrombosis ISO RGD:1323132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868|PMID:28492532 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1323132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:0080177 hepatic veno-occlusive disease ISO RGD:1323132 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (human) PMID:12040478|REF_RGD_ID:10449042 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1311594 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:liver, plasma (rat) PMID:19652891|REF_RGD_ID:2315953 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1323132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:12753286|PMID:17187257|PMID:17627784|PMID:23715102|PMID:25741868|PMID:28492532|PMID:28748566|PMID:28866379|PMID:30046676|PMID:32183147 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1323132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1323132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:0081097 Rafiq syndrome ISO RGD:1323132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:1323132 D RGD:7240710 20180130 OMIM 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:1323132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombotic thrombocytopenic purpura | ClinVar Annotator: match by term: Upshaw-Schulman syndrome PMID:11563771|PMID:11586351|PMID:12181489|PMID:12393505|PMID:12434890|PMID:12576319|PMID:12614216|PMID:12753286|PMID:14512317|PMID:14563640|PMID:14597993|PMID:15009458|PMID:15126318|PMID:15521921|PMID:15800115|PMID:16160007|PMID:16388417|PMID:16453338|PMID:16597588|PMID:16796708|PMID:16807643|PMID:17003922|PMID:17187257|PMID:17576681|PMID:17627784|PMID:17849048|PMID:18031293|PMID:18443791|PMID:18481107|PMID:18581589|PMID:18665921|PMID:19047683|PMID:19055667|PMID:19786614|PMID:19847791|PMID:20647566|PMID:20886194|PMID:21488199|PMID:21676167|PMID:21781265|PMID:22289888|PMID:22529288|PMID:22547583|PMID:22768050|PMID:22783805|PMID:23058857|PMID:23208954|PMID:23346910|PMID:23621748|PMID:23648131|PMID:23715102|PMID:23847193|PMID:24033266|PMID:24433405|PMID:24859360|PMID:24936513|PMID:25442981|PMID:25741868|PMID:25934476|PMID:26081109|PMID:26139087|PMID:26342041|PMID:26352112|PMID:26566785|PMID:27132698|PMID:27427187|PMID:27802307|PMID:28492532|PMID:28678087|PMID:28748566|PMID:28866379|PMID:29554699|PMID:30046676|PMID:30312976|PMID:30792199|PMID:31064749|PMID:31971692|PMID:31980526|PMID:32183147|PMID:32496441|PMID:34355501|PMID:6433703|PMID:7094941|PMID:9536098 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:11247 disseminated intravascular coagulation ISO RGD:1323132 D RGD:9068941 20200609 RGD protein:decreased expression, decreased activity:plasma (human) PMID:16189276|REF_RGD_ID:10449048 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:13133 HELLP syndrome ISO RGD:1323132 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (human) PMID:12969811|REF_RGD_ID:10449045 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:13580 cholestasis ISO RGD:1311594 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:liver, plasma (rat) PMID:19652891|REF_RGD_ID:2315953 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:14067 Plasmodium falciparum malaria ISO RGD:1323132 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (human) PMID:20062916|REF_RGD_ID:10449041 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1323132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:2213 hemorrhagic disease ISO RGD:1323132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:3652 Leigh disease ISO RGD:1323132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:418 systemic scleroderma ISO RGD:1323132 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:12935979|REF_RGD_ID:10449040 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:5082 liver cirrhosis severity ISO RGD:1323132 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:liver (rat) PMID:16689760|REF_RGD_ID:1598737 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:630 genetic disease ISO RGD:1323132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:684 hepatocellular carcinoma ISO RGD:1323132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1323132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19260037 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:1323132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14625834|PMID:16388419 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:9000528 Coronary Disease ISO RGD:1323132 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Three Vessel Coronary Disease PMID:25741868|PMID:28492532 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:9001553 Spinal Cord Compression ISO RGD:1311594 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:spinal cord (rat) PMID:22425718|REF_RGD_ID:10449098 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:9002448 Thrombotic Thrombocytopenic Purpura, Acquired ISO RGD:1323132 D RGD:9068941 20200609 RGD PMID:9828246|REF_RGD_ID:10449039 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:9002448 Thrombotic Thrombocytopenic Purpura, Acquired treatment ISO RGD:1323132 D RGD:9068941 20200609 RGD human protein in a rat model PMID:26338302|REF_RGD_ID:10449097 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:9003871 Venous Thrombosis treatment ISO RGD:1311594 D RGD:9068941 20200609 RGD PMID:21095090|REF_RGD_ID:10449099 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:9007096 Stroke ISO RGD:1323132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:27802307|PMID:28492532 12333329 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:9074 systemic lupus erythematosus ISO RGD:1323132 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:12935979|REF_RGD_ID:10449040 12333363 NCBP2L nuclear cap binding protein subunit 2 like gene DOID:12849 autistic disorder ISO RGD:1353799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12333379 ADAM12 ADAM metallopeptidase domain 12 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1317265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12333379 ADAM12 ADAM metallopeptidase domain 12 gene DOID:5199 ureteral obstruction ISO RGD:1317266 D RGD:9068941 20200609 RGD PMID:24103556|REF_RGD_ID:13703030 12333379 ADAM12 ADAM metallopeptidase domain 12 gene DOID:630 genetic disease ISO RGD:1317265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333379 ADAM12 ADAM metallopeptidase domain 12 gene DOID:8398 osteoarthritis susceptibility ISO RGD:1317265 D RGD:9068941 20200609 RGD PMID:15334463|REF_RGD_ID:1625347 12333406 C10H12orf75 chromosome 10 C12orf75 homolog gene DOID:630 genetic disease ISO RGD:2303668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333415 PDIA2 protein disulfide isomerase family A member 2 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1313029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve 12333415 PDIA2 protein disulfide isomerase family A member 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1313029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12333415 PDIA2 protein disulfide isomerase family A member 2 gene DOID:1826 epilepsy ISO RGD:1313029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 12333415 PDIA2 protein disulfide isomerase family A member 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1313029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12333415 PDIA2 protein disulfide isomerase family A member 2 gene DOID:630 genetic disease ISO RGD:1313029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333437 FXR1 FMR1 autosomal homolog 1 gene DOID:0060249 scoliosis ISO RGD:1323342 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868 12333437 FXR1 FMR1 autosomal homolog 1 gene DOID:0080100 congenital myopathy ISO RGD:1323342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myopathy PMID:25741868 12333437 FXR1 FMR1 autosomal homolog 1 gene DOID:0080991 multiminicore disease ISO RGD:1323342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiminicore myopathy PMID:25741868|PMID:30770808 12333437 FXR1 FMR1 autosomal homolog 1 gene DOID:0110000 3-methylglutaconic aciduria type 5 ISO RGD:1323342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 PMID:16055927|PMID:27928778|PMID:28492532 12333437 FXR1 FMR1 autosomal homolog 1 gene DOID:0111546 Currarino syndrome ISO RGD:1323342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12333437 FXR1 FMR1 autosomal homolog 1 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1323342 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 12333437 FXR1 FMR1 autosomal homolog 1 gene DOID:1059 intellectual disability ISO RGD:1323342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 12333437 FXR1 FMR1 autosomal homolog 1 gene DOID:630 genetic disease ISO RGD:1323342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333437 FXR1 FMR1 autosomal homolog 1 gene DOID:9002436 Congenital Myopathy 9B, Proximal, with Minicore Lesions ISO RGD:1323342 D RGD:7240710 20200520 OMIM 12333437 FXR1 FMR1 autosomal homolog 1 gene DOID:9002436 Congenital Myopathy 9B, Proximal, with Minicore Lesions ISO RGD:1323342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, congenital proximal, with minicore lesions PMID:25741868|PMID:30770808|PMID:35393337 12333437 FXR1 FMR1 autosomal homolog 1 gene DOID:9006903 Congenital Myopathy 9A ISO RGD:1323342 D RGD:7240710 20200805 OMIM 12333437 FXR1 FMR1 autosomal homolog 1 gene DOID:9006903 Congenital Myopathy 9A ISO RGD:1323342 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with respiratory insufficiency and bone fractures PMID:25741868|PMID:28492532|PMID:30770808 12333492 FCGR1A Fc fragment of IgG receptor Ia gene DOID:1540 parathyroid carcinoma ISO RGD:1320511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12333492 FCGR1A Fc fragment of IgG receptor Ia gene DOID:182 calcinosis ISO RGD:1320511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12333492 FCGR1A Fc fragment of IgG receptor Ia gene DOID:4079 heart valve disease ISO RGD:1320511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12333492 FCGR1A Fc fragment of IgG receptor Ia gene DOID:630 genetic disease ISO RGD:1320511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333492 FCGR1A Fc fragment of IgG receptor Ia gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1320511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12333492 FCGR1A Fc fragment of IgG receptor Ia gene DOID:7148 rheumatoid arthritis ISO RGD:1320511 D RGD:9068941 20200609 RGD protein:increased expression:synovial joint: PMID:16670289|REF_RGD_ID:9685708 12333492 FCGR1A Fc fragment of IgG receptor Ia gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12333492 FCGR1A Fc fragment of IgG receptor Ia gene DOID:9002211 Hyperalgesia ameliorates ISO RGD:1309912 D RGD:9068941 20210709 RGD PMID:32510872|REF_RGD_ID:127338469 12333492 FCGR1A Fc fragment of IgG receptor Ia gene DOID:9002457 Experimental Arthritis ISO RGD:10573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12875993 12333492 FCGR1A Fc fragment of IgG receptor Ia gene DOID:9002457 Experimental Arthritis ISO RGD:1309912 D RGD:9068941 20210709 RGD protein:increased expression:dorsal root ganglion PMID:32510872|REF_RGD_ID:127338469 12333492 FCGR1A Fc fragment of IgG receptor Ia gene DOID:9002457 Experimental Arthritis ISO RGD:1320511 D RGD:9068941 20200609 RGD PMID:16670289|REF_RGD_ID:9685708 12333492 FCGR1A Fc fragment of IgG receptor Ia gene DOID:9004610 Acute Lung Injury ISO RGD:1309912 D RGD:9068941 20200609 RGD PMID:19106808|REF_RGD_ID:5147925 12333492 FCGR1A Fc fragment of IgG receptor Ia gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1320511 D RGD:9068941 20200609 RGD PMID:22402584|REF_RGD_ID:9685699 12333492 FCGR1A Fc fragment of IgG receptor Ia gene DOID:9006862 PERITONEAL GLIOMATOSIS ISO RGD:1320511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peritoneal Gliomatosis 12333492 FCGR1A Fc fragment of IgG receptor Ia gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12333507 IL33 interleukin 33 gene DOID:0050256 angiostrongyliasis ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:24076431|REF_RGD_ID:40400715 12333507 IL33 interleukin 33 gene DOID:0050256 angiostrongyliasis ISO RGD:1322462 D RGD:9068941 20201105 RGD protein:increased expression:brain: PMID:23148283|REF_RGD_ID:40400713 12333507 IL33 interleukin 33 gene DOID:0050589 inflammatory bowel disease severity ISO RGD:1322461 D RGD:9068941 20201015 RGD PMID:24491821|REF_RGD_ID:39938952 12333507 IL33 interleukin 33 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:1322461 D RGD:9068941 20201016 RGD PMID:25193287|REF_RGD_ID:39938972 12333507 IL33 interleukin 33 gene DOID:0060180 colitis severity ISO RGD:1322461 D RGD:9068941 20201023 RGD PMID:28423665|REF_RGD_ID:39939041 12333507 IL33 interleukin 33 gene DOID:0060180 colitis severity ISO RGD:1322462 D RGD:9068941 20201030 RGD PMID:23172891|REF_RGD_ID:40400694 12333507 IL33 interleukin 33 gene DOID:0060185 Clostridium difficile colitis severity ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:32156806|REF_RGD_ID:40400894 12333507 IL33 interleukin 33 gene DOID:0060185 Clostridium difficile colitis treatment ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:32156806|REF_RGD_ID:40400894 12333507 IL33 interleukin 33 gene DOID:0060496 respiratory allergy treatment ISO RGD:1322462 D RGD:9068941 20201030 RGD PMID:25424936|REF_RGD_ID:40400692 12333507 IL33 interleukin 33 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1322461 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12333507 IL33 interleukin 33 gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1322462 D RGD:9068941 20201030 RGD associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen: PMID:26518437|REF_RGD_ID:11343232 12333507 IL33 interleukin 33 gene DOID:10230 aortic atherosclerosis ISO RGD:1322461 D RGD:9068941 20230420 RGD protein:increased expression:artery: PMID:31043075|REF_RGD_ID:267986209 12333507 IL33 interleukin 33 gene DOID:10283 prostate cancer ISO RGD:1322461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12333507 IL33 interleukin 33 gene DOID:10459 common cold ISO RGD:1322461 D RGD:9068941 20201023 RGD protein:increased expression:nasal mucus PMID:28471975|REF_RGD_ID:38596342 12333507 IL33 interleukin 33 gene DOID:106 pleural tuberculosis ISO RGD:1322461 D RGD:9068941 20201023 RGD protein:increased expression:pleural fluid: PMID:23301222|REF_RGD_ID:39939042 12333507 IL33 interleukin 33 gene DOID:10652 Alzheimer's disease ISO RGD:1322462 D RGD:9068941 20220825 MouseDO OMIM:608907 12333507 IL33 interleukin 33 gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome severity ISO RGD:1322461 D RGD:9068941 20201105 RGD PMID:25658420|REF_RGD_ID:40400702 12333507 IL33 interleukin 33 gene DOID:11339 pneumocystosis treatment ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:21220696|REF_RGD_ID:40400892 12333507 IL33 interleukin 33 gene DOID:11396 pulmonary edema ISO RGD:1322461 D RGD:9068941 20201105 RGD associated with Plasmodium falciparum malaria;protein:increased expression:lung PMID:26437894|REF_RGD_ID:11342349 12333507 IL33 interleukin 33 gene DOID:11573 listeriosis treatment ISO RGD:1322462 D RGD:9068941 20201030 RGD PMID:25577440|REF_RGD_ID:40400693 12333507 IL33 interleukin 33 gene DOID:12053 cryptococcosis ISO RGD:1322462 D RGD:9068941 20200827 RGD mRNA:increased expression:lung (mouse) PMID:27596810|REF_RGD_ID:38549345 12333507 IL33 interleukin 33 gene DOID:12205 dengue disease severity ISO RGD:1322462 D RGD:9068941 20201015 RGD PMID:30098206|REF_RGD_ID:39938828 12333507 IL33 interleukin 33 gene DOID:12365 malaria ISO RGD:1322462 D RGD:9068941 20201015 RGD protein:increased expression:serum: PMID:28359899|REF_RGD_ID:39938859 12333507 IL33 interleukin 33 gene DOID:12662 paracoccidioidomycosis treatment ISO RGD:1322461 D RGD:9068941 20201015 RGD PMID:28992214|REF_RGD_ID:39938858 12333507 IL33 interleukin 33 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:26044350|PMID:28771101|REF_RGD_ID:11342984|REF_RGD_ID:39939029 12333507 IL33 interleukin 33 gene DOID:13189 gout ISO RGD:1322461 D RGD:9068941 20201105 RGD PMID:30863362|REF_RGD_ID:40400717 12333507 IL33 interleukin 33 gene DOID:13767 clonorchiasis ISO RGD:1322461 D RGD:9068941 20201022 RGD protein:increased expression:serum: PMID:26944417|REF_RGD_ID:39939001 12333507 IL33 interleukin 33 gene DOID:13767 clonorchiasis ISO RGD:1322462 D RGD:9068941 20201022 RGD mRNA,protein:increased expression:liver, serum: PMID:26944417|REF_RGD_ID:39939001 12333507 IL33 interleukin 33 gene DOID:1395 schistosomiasis ISO RGD:1322462 D RGD:9068941 20201015 RGD mRNA,protein:increased expression:liver PMID:29554131|REF_RGD_ID:39938854 12333507 IL33 interleukin 33 gene DOID:14069 cerebral malaria ISO RGD:1322462 D RGD:9068941 20201105 RGD protein:increased expression:brain PMID:25682948|REF_RGD_ID:40400741 12333507 IL33 interleukin 33 gene DOID:14069 cerebral malaria treatment ISO RGD:1322462 D RGD:9068941 20201015 RGD PMID:25659095|REF_RGD_ID:39938955 12333507 IL33 interleukin 33 gene DOID:1508 candidiasis treatment ISO RGD:1322461 D RGD:9068941 20201105 RGD PMID:22661085|REF_RGD_ID:40400896 12333507 IL33 interleukin 33 gene DOID:219 colon cancer treatment ISO RGD:1311155 D RGD:9068941 20201023 RGD associated with colitis; PMID:31407335|REF_RGD_ID:39939040 12333507 IL33 interleukin 33 gene DOID:2841 asthma ISO RGD:1322461 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198610|PMID:21804549|PMID:24241537|PMID:27472835|PMID:29067999 12333507 IL33 interleukin 33 gene DOID:2841 asthma severity ISO RGD:1322461 D RGD:9068941 20201016 RGD associated with fungal infectious disease PMID:25746970|REF_RGD_ID:39938968 12333507 IL33 interleukin 33 gene DOID:2841 asthma treatment ISO RGD:1322462 D RGD:9068941 20201022 RGD associated with viral pneumonia; PMID:28947081|REF_RGD_ID:39939002 12333507 IL33 interleukin 33 gene DOID:2957 pulmonary tuberculosis ISO RGD:1322462 D RGD:9068941 20201016 RGD PMID:28128217|REF_RGD_ID:39938965 12333507 IL33 interleukin 33 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1322462 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:lung: PMID:30952808|REF_RGD_ID:40400740 12333507 IL33 interleukin 33 gene DOID:3310 atopic dermatitis ISO RGD:1322461 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 12333507 IL33 interleukin 33 gene DOID:399 tuberculosis ISO RGD:1322461 D RGD:9068941 20201105 RGD associated with Pleural Effusion;protein:increased expression:pleural biopsy PMID:25755791|REF_RGD_ID:40400701 12333507 IL33 interleukin 33 gene DOID:5082 liver cirrhosis severity ISO RGD:1322461 D RGD:9068941 20201030 RGD PMID:31053540|REF_RGD_ID:40400690 12333507 IL33 interleukin 33 gene DOID:5082 liver cirrhosis severity ISO RGD:1322462 D RGD:9068941 20201015 RGD associated with Schistosomiasis Japonica PMID:31200771|REF_RGD_ID:39938956 12333507 IL33 interleukin 33 gene DOID:552 pneumonia ISO RGD:1322461 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24453940 12333507 IL33 interleukin 33 gene DOID:557 kidney disease ISO RGD:1322461 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21949094 12333507 IL33 interleukin 33 gene DOID:630 genetic disease ISO RGD:1322461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333507 IL33 interleukin 33 gene DOID:646 viral encephalitis ISO RGD:1322462 D RGD:9068941 20201008 RGD mRNA,protein:increased expression:brain,F4/80+ cell PMID:27334012|REF_RGD_ID:39457934 12333507 IL33 interleukin 33 gene DOID:750 peptic ulcer disease susceptibility ISO RGD:1322461 D RGD:9068941 20201015 RGD associated with Helicobacter Infections;DNA:SNP: : rs1929992(human) PMID:31491552|REF_RGD_ID:39938849 12333507 IL33 interleukin 33 gene DOID:824 periodontitis ISO RGD:1322462 D RGD:9068941 20201015 RGD associated with Gram-Negative Bacterial Infections;mRNA:increased expression:gingvia PMID:25808546|REF_RGD_ID:39938855 12333507 IL33 interleukin 33 gene DOID:824 periodontitis severity ISO RGD:1322462 D RGD:9068941 20201015 RGD associated with Gram-Negative Bacterial Infections; PMID:25808546|REF_RGD_ID:39938855 12333507 IL33 interleukin 33 gene DOID:8469 influenza ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:28401938|REF_RGD_ID:40400699 12333507 IL33 interleukin 33 gene DOID:8566 herpes simplex ISO RGD:1322461 D RGD:9068941 20201022 RGD protein:increased expression:skin PMID:26872602|REF_RGD_ID:39939003 12333507 IL33 interleukin 33 gene DOID:8566 herpes simplex ISO RGD:1322462 D RGD:9068941 20201022 RGD protein:increased expression:skin PMID:26872602|REF_RGD_ID:39939003 12333507 IL33 interleukin 33 gene DOID:8577 ulcerative colitis ISO RGD:1322461 D RGD:9068941 20201015 RGD mRNA:increased expression:sigmoid colon PMID:25112700|REF_RGD_ID:39938951 12333507 IL33 interleukin 33 gene DOID:8577 ulcerative colitis severity ISO RGD:1322461 D RGD:9068941 20201112 RGD PMID:21037074|REF_RGD_ID:40813742 12333507 IL33 interleukin 33 gene DOID:8577 ulcerative colitis treatment ISO RGD:1322462 D RGD:9068941 20201016 RGD PMID:28802904|REF_RGD_ID:39938966 12333507 IL33 interleukin 33 gene DOID:883 parasitic helminthiasis infectious disease treatment ISO RGD:1322462 D RGD:9068941 20201022 RGD PMID:25912172|REF_RGD_ID:39939026 12333507 IL33 interleukin 33 gene DOID:9000099 Experimental Colitis severity ISO RGD:1322462 D RGD:9068941 20201015 RGD PMID:25112700|REF_RGD_ID:39938951 12333507 IL33 interleukin 33 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1322462 D RGD:9068941 20201023 RGD PMID:28423665|REF_RGD_ID:39939041 12333507 IL33 interleukin 33 gene DOID:9000469 Viral Myocarditis treatment ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:28041873|REF_RGD_ID:40400900 12333507 IL33 interleukin 33 gene DOID:9001004 Chronic Periodontitis ISO RGD:1322461 D RGD:9068941 20201015 RGD mRNA, protein:increased expression:gingiva PMID:25808546|REF_RGD_ID:39938855 12333507 IL33 interleukin 33 gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:1322462 D RGD:9068941 20201105 RGD mRNA:increased expression:lung: PMID:28401938|REF_RGD_ID:40400699 12333507 IL33 interleukin 33 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322461 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12333507 IL33 interleukin 33 gene DOID:9002211 Hyperalgesia ISO RGD:1311155 D RGD:9068941 20201105 RGD PMID:29329586|REF_RGD_ID:40400909 12333507 IL33 interleukin 33 gene DOID:9002433 Schistosomiasis Japonica ISO RGD:1322461 D RGD:9068941 20201022 RGD protein:increased expression:serum PMID:22590860|REF_RGD_ID:39939027 12333507 IL33 interleukin 33 gene DOID:9002433 Schistosomiasis Japonica severity ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:25944738|REF_RGD_ID:40400890 12333507 IL33 interleukin 33 gene DOID:9002433 Schistosomiasis Japonica treatment ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:25944738|REF_RGD_ID:40400890 12333507 IL33 interleukin 33 gene DOID:9002457 Experimental Arthritis ISO RGD:1322461 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20472598 12333507 IL33 interleukin 33 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:1322461 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22967010 12333507 IL33 interleukin 33 gene DOID:9002992 Nematode Infections ISO RGD:1322462 D RGD:9068941 20201105 RGD associated with Nippostrongylus brasiliensis infection; mRNA:increased expression:lung PMID:22331917|REF_RGD_ID:40400742 12333507 IL33 interleukin 33 gene DOID:9003369 Strongylida Infections ISO RGD:1322462 D RGD:9068941 20201105 RGD mRNA:increased expression:lung PMID:22331917|REF_RGD_ID:40400742 12333507 IL33 interleukin 33 gene DOID:9003603 Hemolysis ISO RGD:1322461 D RGD:9068941 20201030 RGD associated with sickle cell anemia;protein:increased expression:plasma: PMID:26107423|REF_RGD_ID:40400691 12333507 IL33 interleukin 33 gene DOID:9003936 Cardiomegaly ISO RGD:1322462 D RGD:9068941 20201112 RGD protein:increased expression:cardiomyocyte PMID:17492053|REF_RGD_ID:40813740 12333507 IL33 interleukin 33 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1311155 D RGD:9068941 20201112 RGD PMID:17492053|REF_RGD_ID:40813740 12333507 IL33 interleukin 33 gene DOID:9004036 Superinfection ISO RGD:1322462 D RGD:9068941 20201105 RGD influenza and Pneumonia, Staphylococcal PMID:28401938|REF_RGD_ID:40400699 12333507 IL33 interleukin 33 gene DOID:9004484 Sepsis ISO RGD:1322461 D RGD:9068941 20201105 RGD protein:increased expression:plasma: PMID:29935165|REF_RGD_ID:40400895 12333507 IL33 interleukin 33 gene DOID:9004484 Sepsis ISO RGD:1322462 D RGD:9068941 20201105 RGD protein:increased expression:plasma, peritoneal fluid: PMID:29935165|REF_RGD_ID:40400895 12333507 IL33 interleukin 33 gene DOID:9004484 Sepsis severity ISO RGD:1322461 D RGD:9068941 20201105 RGD PMID:25665614|REF_RGD_ID:40400739 12333507 IL33 interleukin 33 gene DOID:9004531 Cardiovirus Infections ISO RGD:1322462 D RGD:9068941 20201105 RGD mRNA:increased expression:brain: PMID:18552204|REF_RGD_ID:40400716 12333507 IL33 interleukin 33 gene DOID:9005724 Fungal Lung Diseases ISO RGD:1322462 D RGD:9068941 20201016 RGD protein:increased expression:lung PMID:25746970|REF_RGD_ID:39938968 12333507 IL33 interleukin 33 gene DOID:9005966 Staphylococcal Skin Infections ISO RGD:1322462 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:skin PMID:23892028|REF_RGD_ID:40400893 12333507 IL33 interleukin 33 gene DOID:9005966 Staphylococcal Skin Infections treatment ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:23892028|REF_RGD_ID:40400893 12333507 IL33 interleukin 33 gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:1311155 D RGD:9068941 20201105 RGD protein:increased expression:spinal cord: PMID:29329586|REF_RGD_ID:40400909 12333507 IL33 interleukin 33 gene DOID:9006535 Hookworm Infections ISO RGD:1322462 D RGD:9068941 20201015 RGD mRNA,protein:increased expression:Bronchoalveolar lavage, epithelium, macrophage PMID:22329990|REF_RGD_ID:39938827 12333507 IL33 interleukin 33 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1322461 D RGD:9068941 20201023 RGD protein:increased expression:nasal mucus PMID:28471975|REF_RGD_ID:38596342 12333507 IL33 interleukin 33 gene DOID:9007417 Pseudomonas Infections ISO RGD:1322462 D RGD:9068941 20201105 RGD mRNA:increased expression:lung: PMID:28401938|REF_RGD_ID:40400699 12333507 IL33 interleukin 33 gene DOID:9008114 Helicobacter Infections ISO RGD:1322461 D RGD:9068941 20201022 RGD mRNA:increased expression:stomach PMID:31320834|REF_RGD_ID:39939030 12333507 IL33 interleukin 33 gene DOID:9008114 Helicobacter Infections severity ISO RGD:1322461 D RGD:9068941 20201015 RGD associated with Helicobacter Infections;DNA:SNP: : rs1929992(human) PMID:31491552|REF_RGD_ID:39938849 12333507 IL33 interleukin 33 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1322461 D RGD:9068941 20201008 RGD PMID:27180842|REF_RGD_ID:39457933 12333507 IL33 interleukin 33 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1322462 D RGD:9068941 20201015 RGD PMID:25714983|REF_RGD_ID:39938954 12333507 IL33 interleukin 33 gene DOID:9351 diabetes mellitus ISO RGD:1311155 D RGD:9068941 20201105 RGD protein:increased expression:serum,ovary PMID:28412870|REF_RGD_ID:40400904 12333507 IL33 interleukin 33 gene DOID:9408 acute myocardial infarction ISO RGD:1311155 D RGD:9068941 20201112 RGD PMID:24837094|REF_RGD_ID:40813741 12333507 IL33 interleukin 33 gene DOID:9778 irritable bowel syndrome severity ISO RGD:1322461 D RGD:9068941 20201030 RGD PMID:23172891|REF_RGD_ID:40400694 12333507 Il33 interleukin 33 gene DOID:9004484 Sepsis ISO RGD:1322462 D RGD:9068941 20201022 RGD PMID:29672927|REF_RGD_ID:39939028 12333524 EDNRB endothelin receptor type B gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:736090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:16944573|PMID:18162831|PMID:25741868|PMID:30303587|PMID:32747562 12333524 EDNRB endothelin receptor type B gene DOID:0050600 ABCD syndrome ISO RGD:736090 D RGD:7240710 20230517 OMIM 12333524 EDNRB endothelin receptor type B gene DOID:0050600 ABCD syndrome ISO RGD:736090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ABCD syndrome PMID:10528251|PMID:11891690|PMID:20127975|PMID:24033266|PMID:25741868|PMID:26100139|PMID:26467025|PMID:28492532|PMID:30394532|PMID:7778600|PMID:8001159 12333524 EDNRB endothelin receptor type B gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:736090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12333524 EDNRB endothelin receptor type B gene DOID:0080130 mitochondrial DNA depletion syndrome 12a ISO RGD:736090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant PMID:10090908|PMID:10874640|PMID:16145050|PMID:16954478|PMID:19320733|PMID:20009762|PMID:21507037|PMID:22993632|PMID:22995991|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532|PMID:29407415|PMID:8852659 12333524 EDNRB endothelin receptor type B gene DOID:0110950 Waardenburg syndrome type 2A ISO RGD:736090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2A PMID:10090908|PMID:10874640|PMID:16145050|PMID:16954478|PMID:19320733|PMID:20009762|PMID:21507037|PMID:22993632|PMID:22995991|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532|PMID:29407415|PMID:8852659 12333524 EDNRB endothelin receptor type B gene DOID:0110953 Waardenburg syndrome type 4A ISO RGD:736090 D RGD:7240710 20230517 OMIM 12333524 EDNRB endothelin receptor type B gene DOID:0110953 Waardenburg syndrome type 4A ISO RGD:736090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 4A PMID:10090908|PMID:10458491|PMID:10528251|PMID:10664228|PMID:10874640|PMID:11891690|PMID:14633923|PMID:16145050|PMID:16944573|PMID:16954478|PMID:17011274|PMID:18162831|PMID:19320733|PMID:20009762|PMID:20127975|PMID:21507037|PMID:22993632|PMID:22995991|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532|PMID:29407415|PMID:30303587|PMID:30311386|PMID:30394532|PMID:32747562|PMID:7778600|PMID:8001158|PMID:8001159|PMID:8634719|PMID:8852659|PMID:8852660 12333524 EDNRB endothelin receptor type B gene DOID:10003 sensorineural hearing loss ISO RGD:2536 D RGD:9068941 20200609 RGD DNA:mutation:cds: PMID:21915282|REF_RGD_ID:6480217 12333524 EDNRB endothelin receptor type B gene DOID:10487 Hirschsprung's disease ISO RGD:736090 D RGD:7240710 20230517 OMIM 12333524 EDNRB endothelin receptor type B gene DOID:10487 Hirschsprung's disease ISO RGD:736090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Recessive | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 PMID:10090908|PMID:10458491|PMID:10664228|PMID:10874640|PMID:12628594|PMID:14633923|PMID:16145050|PMID:16518596|PMID:16944573|PMID:16954478|PMID:17011274|PMID:17223014|PMID:17618893|PMID:18162831|PMID:18633623|PMID:18758497|PMID:19320733|PMID:20009762|PMID:21507037|PMID:22993632|PMID:22995991|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27535533|PMID:27639823|PMID:28492532|PMID:29407415|PMID:30218169|PMID:30303587|PMID:32747562|PMID:8001158|PMID:8852658|PMID:8852659|PMID:8852660|PMID:9359036|PMID:9760196 12333524 EDNRB endothelin receptor type B gene DOID:10487 Hirschsprung's disease treatment ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:9739043|REF_RGD_ID:628516 12333524 EDNRB endothelin receptor type B gene DOID:10762 portal hypertension ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:17214938|REF_RGD_ID:4892595 12333524 EDNRB endothelin receptor type B gene DOID:10763 hypertension ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:10749572|REF_RGD_ID:628518 12333524 EDNRB endothelin receptor type B gene DOID:10763 hypertension ISO RGD:2536 D RGD:9068941 20200609 RGD associated with Uremia PMID:20144075|REF_RGD_ID:4892284 12333524 EDNRB endothelin receptor type B gene DOID:11372 megacolon ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:8570650|REF_RGD_ID:628515 12333524 EDNRB endothelin receptor type B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10528251|PMID:20127975|PMID:20157158|PMID:22589734|PMID:28492532|PMID:30394532|PMID:31406620|PMID:32393339|PMID:8001159 12333524 EDNRB endothelin receptor type B gene DOID:2527 nephrosis ISO RGD:736090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7756592 12333524 EDNRB endothelin receptor type B gene DOID:2841 asthma ISO RGD:10505 D RGD:9068941 20200609 RGD PMID:18632188|REF_RGD_ID:4892288 12333524 EDNRB endothelin receptor type B gene DOID:2841 asthma ISO RGD:2536 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchus, smooth muscle cell PMID:15245576|REF_RGD_ID:4892324 12333524 EDNRB endothelin receptor type B gene DOID:2841 asthma ISO RGD:736090 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:17470272|REF_RGD_ID:4892321 12333524 EDNRB endothelin receptor type B gene DOID:5844 myocardial infarction ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:12524016|REF_RGD_ID:1580948 12333524 EDNRB endothelin receptor type B gene DOID:6000 congestive heart failure ISO RGD:736090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28095452 12333524 EDNRB endothelin receptor type B gene DOID:614 lymphopenia ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:22975636|REF_RGD_ID:7207471 12333524 EDNRB endothelin receptor type B gene DOID:630 genetic disease ISO RGD:736090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12333524 EDNRB endothelin receptor type B gene DOID:6432 pulmonary hypertension ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:15243299|PMID:18091567|REF_RGD_ID:1580949|REF_RGD_ID:4892289 12333524 EDNRB endothelin receptor type B gene DOID:6432 pulmonary hypertension ISO RGD:736090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15927975 12333524 EDNRB endothelin receptor type B gene DOID:6432 pulmonary hypertension ISO RGD:736090 D RGD:9068941 20200609 RGD PMID:20562228|REF_RGD_ID:4144877 12333524 EDNRB endothelin receptor type B gene DOID:900 hepatopulmonary syndrome ISO RGD:2536 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:17110505|REF_RGD_ID:4892290 12333524 EDNRB endothelin receptor type B gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:736090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8587695 12333524 EDNRB endothelin receptor type B gene DOID:9003546 Total Intestinal Aganglionosis ISO RGD:736090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionosis, total intestinal PMID:16944573|PMID:18162831|PMID:25741868|PMID:30303587|PMID:32747562 12333524 EDNRB endothelin receptor type B gene DOID:9004009 Reperfusion Injury ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:18722366|REF_RGD_ID:4892577 12333524 EDNRB endothelin receptor type B gene DOID:9004538 Hearing Loss ISO RGD:736090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:16944573|PMID:18162831|PMID:25741868|PMID:30303587|PMID:30311386|PMID:32747562 12333524 EDNRB endothelin receptor type B gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 12333524 EDNRB endothelin receptor type B gene DOID:9005027 Waardenburg Syndrome Type 4 ISO RGD:736090 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease with pigmentary anomaly PMID:16944573|PMID:18162831|PMID:25741868|PMID:30303587|PMID:32747562 12333524 EDNRB endothelin receptor type B gene DOID:9005660 Hypopigmentation ISO RGD:2536 D RGD:9068941 20210219 RGD compared to LE/Hkv.AR-Ednrbsl PMID:26796131|REF_RGD_ID:10755346 12333524 EDNRB endothelin receptor type B gene DOID:9007102 Myocardial Ischemia ISO RGD:736090 D RGD:9068941 20200609 RGD PMID:14729387|REF_RGD_ID:1580946 12333524 EDNRB endothelin receptor type B gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:21048781|REF_RGD_ID:4892332 12333524 EDNRB endothelin receptor type B gene DOID:9008091 Optic Nerve Injuries ISO RGD:2536 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:18600494|REF_RGD_ID:4892579 12333524 EDNRB endothelin receptor type B gene DOID:9008539 Perinatal Death ISO RGD:2536 D RGD:9068941 20210409 RGD PMID:8570650|REF_RGD_ID:628515 12333524 EDNRB endothelin receptor type B gene DOID:9008939 Breast Neoplasms ISO RGD:736090 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16244791 12333524 EDNRB endothelin receptor type B gene DOID:9009073 Diaphragmatic Hernia ISO RGD:736090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10693666 12333524 EDNRB endothelin receptor type B gene DOID:9258 Waardenburg's syndrome ISO RGD:736090 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 12333524 EDNRB endothelin receptor type B gene DOID:9352 type 2 diabetes mellitus ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:19286964|REF_RGD_ID:2313280 12333524 EDNRB endothelin receptor type B gene DOID:9352 type 2 diabetes mellitus ISO RGD:736090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16387788 12333540 CORO1B coronin 1B gene DOID:1059 intellectual disability ISO RGD:736068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12333540 CORO1B coronin 1B gene DOID:630 genetic disease ISO RGD:736068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333540 CORO1B coronin 1B gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:736068 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12333540 CORO1B coronin 1B gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:736068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12333554 SETMAR SET domain without mariner transposase fusion gene DOID:0050965 spinocerebellar ataxia type 15 ISO RGD:1348585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16 PMID:17932120|PMID:20669319|PMID:21681106 12333554 SETMAR SET domain without mariner transposase fusion gene DOID:630 genetic disease ISO RGD:1348585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333554 SETMAR SET domain without mariner transposase fusion gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12333559 COMP cartilage oligomeric matrix protein gene DOID:0070303 multiple epiphyseal dysplasia 1 ISO RGD:736605 D RGD:7240710 20180130 OMIM 12333559 COMP cartilage oligomeric matrix protein gene DOID:0070303 multiple epiphyseal dysplasia 1 ISO RGD:736605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 1, severe | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1 PMID:10405447|PMID:11968079|PMID:12483304|PMID:12768438|PMID:14684695|PMID:15523498|PMID:15756302|PMID:17133256|PMID:19276170|PMID:21834907|PMID:21922596|PMID:21965141|PMID:23562786|PMID:24595329|PMID:25741868|PMID:27330822|PMID:27432013|PMID:28051032|PMID:28492532|PMID:30138938|PMID:30408610|PMID:32686688|PMID:33030144|PMID:7670471|PMID:7670472|PMID:9021009|PMID:9463320 12333559 COMP cartilage oligomeric matrix protein gene DOID:0080047 pseudoachondroplasia ISO RGD:736605 D RGD:7240710 20180130 OMIM 12333559 COMP cartilage oligomeric matrix protein gene DOID:0080047 pseudoachondroplasia ISO RGD:736605 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome PMID:10405447|PMID:11565064|PMID:11746044|PMID:11746045|PMID:12483304|PMID:12768438|PMID:15756302|PMID:17394206|PMID:17570134|PMID:20936634|PMID:21922596|PMID:21965141|PMID:23956175|PMID:24595329|PMID:25741868|PMID:26377240|PMID:28492532|PMID:30138938|PMID:7670471|PMID:7670472|PMID:9463320|PMID:9632164|PMID:9880218|PMID:9921895 12333559 COMP cartilage oligomeric matrix protein gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:736605 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 12333559 COMP cartilage oligomeric matrix protein gene DOID:12721 multiple epiphyseal dysplasia ISO RGD:736605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia PMID:11565064|PMID:12483304|PMID:14684695|PMID:15756302|PMID:17570134|PMID:21834907|PMID:21965141|PMID:23956175|PMID:24595329|PMID:25741868|PMID:28051032|PMID:28492532|PMID:32686688|PMID:9021009|PMID:9463320 12333559 COMP cartilage oligomeric matrix protein gene DOID:2256 osteochondrodysplasia ISO RGD:736605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia PMID:11565064|PMID:12483304|PMID:14684695|PMID:15756302|PMID:17570134|PMID:21834907|PMID:21965141|PMID:23956175|PMID:24595329|PMID:25741868|PMID:28051032|PMID:28492532|PMID:32686688|PMID:9021009|PMID:9463320 12333559 COMP cartilage oligomeric matrix protein gene DOID:630 genetic disease ISO RGD:736605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15756302|PMID:19276170|PMID:24595329|PMID:25741868|PMID:28492532 12333559 COMP cartilage oligomeric matrix protein gene DOID:65 connective tissue disease ISO RGD:736605 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 12333559 COMP cartilage oligomeric matrix protein gene DOID:8398 osteoarthritis ISO RGD:736605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7670472 12333559 COMP cartilage oligomeric matrix protein gene DOID:9003916 Carpal Tunnel Syndrome 2 ISO RGD:736605 D RGD:7240710 20210203 OMIM 12333559 COMP cartilage oligomeric matrix protein gene DOID:9003916 Carpal Tunnel Syndrome 2 ISO RGD:736605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carpal tunnel syndrome 2 PMID:12483304|PMID:14684695|PMID:21834907|PMID:21965141|PMID:24595329|PMID:25741868|PMID:28492532|PMID:32686688 12333559 COMP cartilage oligomeric matrix protein gene DOID:9005077 Joint Instability ISO RGD:736605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9887340 12333559 COMP cartilage oligomeric matrix protein gene DOID:9006041 Osteoarthritis, Hip ISO RGD:736605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28319091 12333559 COMP cartilage oligomeric matrix protein gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:736605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12333582 C1QA complement C1q A chain gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1315493 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 12333582 C1QA complement C1q A chain gene DOID:0050486 exanthem ISO RGD:1315493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8840296 12333582 C1QA complement C1q A chain gene DOID:0060369 Parkinson's disease 6 ISO RGD:1315493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12333582 C1QA complement C1q A chain gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1315493 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12333582 C1QA complement C1q A chain gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1315493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12333582 C1QA complement C1q A chain gene DOID:0080600 COVID-19 ISO RGD:1315493 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12333582 C1QA complement C1q A chain gene DOID:11758 iron deficiency anemia ISO RGD:1306716 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus: PMID:18723004|REF_RGD_ID:2301196 12333582 C1QA complement C1q A chain gene DOID:1557 hypersensitivity reaction type III disease ISO RGD:1315493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8840296 12333582 C1QA complement C1q A chain gene DOID:1826 epilepsy ISO RGD:1315494 D RGD:9068941 20220825 MouseDO 12333582 C1QA complement C1q A chain gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1315493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8840296 12333582 C1QA complement C1q A chain gene DOID:2921 glomerulonephritis susceptibility ISO RGD:1315493 D RGD:9068941 20200609 RGD DNA:nonsense mutation (human) PMID:8840296|REF_RGD_ID:1600549 12333582 C1QA complement C1q A chain gene DOID:2986 IgA glomerulonephritis ISO RGD:1315493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636|PMID:8840296 12333582 C1QA complement C1q A chain gene DOID:630 genetic disease ISO RGD:1315493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12333582 C1QA complement C1q A chain gene DOID:9000998 Brain Injuries ISO RGD:1306716 D RGD:9068941 20200609 RGD PMID:23808389|REF_RGD_ID:10054313 12333582 C1QA complement C1q A chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12333582 C1QA complement C1q A chain gene DOID:9005556 C1q Deficiency 1 ISO RGD:1315493 D RGD:7240710 20230505 OMIM 12333582 C1QA complement C1q A chain gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1315493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12333582 C1QA complement C1q A chain gene DOID:9007516 C1q Deficiency ISO RGD:1315493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: C1Q deficiency PMID:21654842|PMID:25741868|PMID:26563161|PMID:28492532|PMID:29739689|PMID:30008451|PMID:7594474|PMID:8840296|PMID:9225968 12333582 C1QA complement C1q A chain gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1315493 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 12333582 C1QA complement C1q A chain gene DOID:9074 systemic lupus erythematosus ISO RGD:1315493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8840296 12333582 C1QA complement C1q A chain gene DOID:9074 systemic lupus erythematosus ISO RGD:1315494 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12333589 MAT2B methionine adenosyltransferase 2B gene DOID:630 genetic disease ISO RGD:1606800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333604 EGLN3 egl-9 family hypoxia inducible factor 3 gene DOID:3021 acute kidney failure ISO RGD:71019 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:19349364|REF_RGD_ID:11252083 12333604 EGLN3 egl-9 family hypoxia inducible factor 3 gene DOID:4450 renal cell carcinoma ISO RGD:732652 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20676679|REF_RGD_ID:13506732 12333604 EGLN3 egl-9 family hypoxia inducible factor 3 gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:732652 D RGD:9068941 20200609 RGD PMID:23788753|REF_RGD_ID:13506731 12333604 EGLN3 egl-9 family hypoxia inducible factor 3 gene DOID:5844 myocardial infarction ISO RGD:71019 D RGD:9068941 20200609 RGD PMID:16765982|REF_RGD_ID:11252084 12333604 EGLN3 egl-9 family hypoxia inducible factor 3 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:732652 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12333604 EGLN3 egl-9 family hypoxia inducible factor 3 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:71019 D RGD:9068941 20200609 RGD PMID:16761101|REF_RGD_ID:11252085 12333604 EGLN3 egl-9 family hypoxia inducible factor 3 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:71019 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:19349364|REF_RGD_ID:11252083 12333604 EGLN3 egl-9 family hypoxia inducible factor 3 gene DOID:9007188 Liver Neoplasms ISO RGD:732652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12333613 CUL9 cullin 9 gene DOID:0050444 infantile Refsum disease ISO RGD:1604392 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12333613 CUL9 cullin 9 gene DOID:630 genetic disease ISO RGD:1604392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333613 CUL9 cullin 9 gene DOID:905 Zellweger syndrome ISO RGD:1604392 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12333663 ARHGAP10 Rho GTPase activating protein 10 gene DOID:0060224 atrial fibrillation ISO RGD:1322908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12333663 ARHGAP10 Rho GTPase activating protein 10 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1322908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 12333663 ARHGAP10 Rho GTPase activating protein 10 gene DOID:630 genetic disease ISO RGD:1322908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333663 ARHGAP10 Rho GTPase activating protein 10 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1322908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 12333693 ING2 inhibitor of growth family member 2 gene DOID:630 genetic disease ISO RGD:1348017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333699 EHF ETS homologous factor gene DOID:1059 intellectual disability ISO RGD:1321091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12333699 EHF ETS homologous factor gene DOID:630 genetic disease ISO RGD:1321091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333699 EHF ETS homologous factor gene DOID:7693 abdominal aortic aneurysm treatment ISO RGD:1310282 D RGD:9068941 20200609 RGD PMID:14662712|REF_RGD_ID:1581123 12333699 EHF ETS homologous factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12333715 ARFGEF3 ARFGEF family member 3 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1320499 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12333715 ARFGEF3 ARFGEF family member 3 gene DOID:543 dystonia ISO RGD:1320499 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868|PMID:33098801 12333715 ARFGEF3 ARFGEF family member 3 gene DOID:630 genetic disease ISO RGD:1320499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333715 ARFGEF3 ARFGEF family member 3 gene DOID:9007956 Febrile Seizures ISO RGD:1320499 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Febrile seizures PMID:25741868 12333767 MYO16 myosin XVI gene DOID:10283 prostate cancer ISO RGD:1604637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12333767 MYO16 myosin XVI gene DOID:2222 factor X deficiency ISO RGD:1604637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12333767 MYO16 myosin XVI gene DOID:630 genetic disease ISO RGD:1604637 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12333767 MYO16 myosin XVI gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1604637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12333807 CCDC113 coiled-coil domain containing 113 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12333807 CCDC113 coiled-coil domain containing 113 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12333807 CCDC113 coiled-coil domain containing 113 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12333807 CCDC113 coiled-coil domain containing 113 gene DOID:630 genetic disease ISO RGD:1606018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333836 ADCY7 adenylate cyclase 7 gene DOID:0111122 nephronophthisis 14 ISO RGD:735780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 12333836 ADCY7 adenylate cyclase 7 gene DOID:5419 schizophrenia ISO RGD:735780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12333836 ADCY7 adenylate cyclase 7 gene DOID:630 genetic disease ISO RGD:735780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333836 ADCY7 adenylate cyclase 7 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12333836 ADCY7 adenylate cyclase 7 gene DOID:8577 ulcerative colitis ISO RGD:735780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28067910 12333836 ADCY7 adenylate cyclase 7 gene DOID:9119 acute myeloid leukemia ISO RGD:735780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 12333865 TLE3 TLE family member 3, transcriptional corepressor gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1351900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12333865 TLE3 TLE family member 3, transcriptional corepressor gene DOID:2717 Bloom syndrome ISO RGD:1351900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12333865 TLE3 TLE family member 3, transcriptional corepressor gene DOID:630 genetic disease ISO RGD:1351900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333865 TLE3 TLE family member 3, transcriptional corepressor gene DOID:7148 rheumatoid arthritis ISO RGD:1351900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 12333865 TLE3 TLE family member 3, transcriptional corepressor gene DOID:9008939 Breast Neoplasms ISO RGD:1351900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19075277 12333865 TLE3 TLE family member 3, transcriptional corepressor gene DOID:9256 colorectal cancer ISO RGD:1351900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12333907 KLHL25 kelch like family member 25 gene DOID:2717 Bloom syndrome ISO RGD:1605054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12333907 KLHL25 kelch like family member 25 gene DOID:630 genetic disease ISO RGD:1605054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333907 KLHL25 kelch like family member 25 gene DOID:9256 colorectal cancer ISO RGD:1605054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12333919 APBB2 amyloid beta precursor protein binding family B member 2 gene DOID:10652 Alzheimer's disease onset ISO RGD:1342475 D RGD:9068941 20200609 RGD DNA:SNPs: :rs13133980,rs17443013(human) PMID:15714520|REF_RGD_ID:9684954 12333919 APBB2 amyloid beta precursor protein binding family B member 2 gene DOID:1561 cognitive disorder severity ISO RGD:1342475 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: : rs13133980,rs17443013 (human) PMID:23384821|REF_RGD_ID:9684953 12333919 APBB2 amyloid beta precursor protein binding family B member 2 gene DOID:630 genetic disease ISO RGD:1342475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333919 APBB2 amyloid beta precursor protein binding family B member 2 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1342475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 12333919 APBB2 amyloid beta precursor protein binding family B member 2 gene DOID:9004657 Weight Gain ISO RGD:1342475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12333962 ALYREF Aly/REF export factor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1322669 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12333962 ALYREF Aly/REF export factor gene DOID:630 genetic disease ISO RGD:1322669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333972 GRIK3 glutamate ionotropic receptor kainate type subunit 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:735713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12333972 GRIK3 glutamate ionotropic receptor kainate type subunit 3 gene DOID:5409 lung small cell carcinoma ISO RGD:735713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 12333972 GRIK3 glutamate ionotropic receptor kainate type subunit 3 gene DOID:630 genetic disease ISO RGD:735713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333998 SPATA4 spermatogenesis associated 4 gene DOID:630 genetic disease ISO RGD:1348615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12333998 SPATA4 spermatogenesis associated 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12334019 SGK2 serum/glucocorticoid regulated kinase 2 gene DOID:2234 focal epilepsy ISO RGD:1347154 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12334019 SGK2 serum/glucocorticoid regulated kinase 2 gene DOID:630 genetic disease ISO RGD:1347154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334019 SGK2 serum/glucocorticoid regulated kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12334019 SGK2 serum/glucocorticoid regulated kinase 2 gene DOID:9256 colorectal cancer ISO RGD:1347154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 12334044 ODAM odontogenic, ameloblast associated gene DOID:630 genetic disease ISO RGD:1603034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334044 ODAM odontogenic, ameloblast associated gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1603034 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12334059 SBSN suprabasin gene DOID:0110222 Brugada syndrome 5 ISO RGD:1602809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12334059 SBSN suprabasin gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1602809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12334059 SBSN suprabasin gene DOID:543 dystonia ISO RGD:1602809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12334059 SBSN suprabasin gene DOID:630 genetic disease ISO RGD:1602809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334070 MARCKSL1 MARCKS like 1 gene DOID:11832 visual epilepsy ISO RGD:621197 D RGD:9068941 20200609 RGD PMID:11054811|REF_RGD_ID:9685329 12334070 MARCKSL1 MARCKS like 1 gene DOID:630 genetic disease ISO RGD:1352052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334097 CHST3 carbohydrate sulfotransferase 3 gene DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations ISO RGD:1352183 D RGD:7240710 20180130 OMIM 12334097 CHST3 carbohydrate sulfotransferase 3 gene DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations ISO RGD:1352183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia with congenital joint dislocations PMID:112567|PMID:15098240|PMID:15215498|PMID:15368507|PMID:18513679|PMID:18698629|PMID:19320654|PMID:20830804|PMID:23918704|PMID:24300290|PMID:25741868|PMID:26402641|PMID:26572954|PMID:27753269|PMID:28492532|PMID:29453417|PMID:29620724|PMID:30200136|PMID:32639237|PMID:9039660 12334097 CHST3 carbohydrate sulfotransferase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1352183 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12334097 CHST3 carbohydrate sulfotransferase 3 gene DOID:0080006 bone development disease ISO RGD:1352183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:28492532 12334097 CHST3 carbohydrate sulfotransferase 3 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1352183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12334097 CHST3 carbohydrate sulfotransferase 3 gene DOID:0111330 combined saposin deficiency ISO RGD:1352183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency PMID:28492532 12334097 CHST3 carbohydrate sulfotransferase 3 gene DOID:14764 Larsen syndrome ISO RGD:1352183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen syndrome PMID:28492532 12334097 CHST3 carbohydrate sulfotransferase 3 gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:1352183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita PMID:28492532 12334097 CHST3 carbohydrate sulfotransferase 3 gene DOID:2256 osteochondrodysplasia ISO RGD:1352183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30200136 12334097 CHST3 carbohydrate sulfotransferase 3 gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:1352183 D RGD:9068941 20200609 RGD spondyloepiphyseal dysplasia, Omani type, OMIM:608637;DNA:missense mutation:p.R304Q PMID:15215498|REF_RGD_ID:1600853 12334097 CHST3 carbohydrate sulfotransferase 3 gene DOID:5419 schizophrenia ISO RGD:732189 D RGD:9068941 20220825 MouseDO OMIM:181500 12334097 CHST3 carbohydrate sulfotransferase 3 gene DOID:630 genetic disease ISO RGD:1352183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12334110 PRPF3 pre-mRNA processing factor 3 gene DOID:0110356 retinitis pigmentosa 18 ISO RGD:1321525 D RGD:7240710 20180130 OMIM 12334110 PRPF3 pre-mRNA processing factor 3 gene DOID:0110356 retinitis pigmentosa 18 ISO RGD:1321525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 18 PMID:11773002|PMID:15085354|PMID:16799052|PMID:17517693|PMID:17932117|PMID:18412284|PMID:20309403|PMID:20811066|PMID:21378395|PMID:25741868|PMID:28492532|PMID:28559085|PMID:33576794 12334110 PRPF3 pre-mRNA processing factor 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1321525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12334110 PRPF3 pre-mRNA processing factor 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1321525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12334110 PRPF3 pre-mRNA processing factor 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1321525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12334110 PRPF3 pre-mRNA processing factor 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1321525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11773002|PMID:15085354|PMID:17932117|PMID:20309403|PMID:20811066|PMID:25741868|PMID:28492532|PMID:28559085 12334110 PRPF3 pre-mRNA processing factor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1321525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12334110 PRPF3 pre-mRNA processing factor 3 gene DOID:5812 MHC class II deficiency ISO RGD:1321525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12334110 PRPF3 pre-mRNA processing factor 3 gene DOID:630 genetic disease ISO RGD:1321525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12334110 PRPF3 pre-mRNA processing factor 3 gene DOID:8501 fundus dystrophy ISO RGD:1321525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11773002|PMID:15085354|PMID:17932117|PMID:20309403|PMID:20811066|PMID:25741868|PMID:27886254|PMID:28492532|PMID:28559085 12334110 PRPF3 pre-mRNA processing factor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12334134 CCDC24 coiled-coil domain containing 24 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532 12334134 CCDC24 coiled-coil domain containing 24 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12334134 CCDC24 coiled-coil domain containing 24 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532 12334134 CCDC24 coiled-coil domain containing 24 gene DOID:630 genetic disease ISO RGD:1603566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334213 MX2 MX dynamin like GTPase 2 gene DOID:12849 autistic disorder ISO RGD:1351068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12334213 MX2 MX dynamin like GTPase 2 gene DOID:1909 melanoma ISO RGD:1351068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983787 12334213 MX2 MX dynamin like GTPase 2 gene DOID:630 genetic disease ISO RGD:1351068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334213 MX2 MX dynamin like GTPase 2 gene DOID:9001488 Human Influenza ISO RGD:1351068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12334213 MX2 MX dynamin like GTPase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12334230 YEATS4 YEATS domain containing 4 gene DOID:3070 high grade glioma ISO RGD:1305741 D RGD:9068941 20200609 RGD PMID:11521196|REF_RGD_ID:1598696 12334230 YEATS4 YEATS domain containing 4 gene DOID:3382 liposarcoma ISO RGD:1353043 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20601955 12334241 MTUS1 microtubule associated scaffold protein 1 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:1343554 D RGD:9068941 20200609 RGD PMID:22153618|REF_RGD_ID:25330347 12334241 MTUS1 microtubule associated scaffold protein 1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1343554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 12334241 MTUS1 microtubule associated scaffold protein 1 gene DOID:219 colon cancer ISO RGD:1343554 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:colon (human) PMID:19956880|REF_RGD_ID:2317016 12334241 MTUS1 microtubule associated scaffold protein 1 gene DOID:3459 breast carcinoma ISO RGD:1343554 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:breast carcinoma (human) PMID:19794912|REF_RGD_ID:2317017 12334241 MTUS1 microtubule associated scaffold protein 1 gene DOID:4001 ovarian carcinoma ISO RGD:1343554 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovarian carcinoma (human) PMID:16270321|REF_RGD_ID:2317019 12334241 MTUS1 microtubule associated scaffold protein 1 gene DOID:4866 salivary gland adenoid cystic carcinoma disease_progression ISO RGD:1343554 D RGD:9068941 20200609 RGD PMID:25885343|REF_RGD_ID:25330345 12334241 MTUS1 microtubule associated scaffold protein 1 gene DOID:4948 gallbladder carcinoma disease_progression ISO RGD:1343554 D RGD:9068941 20200609 RGD PMID:31882471|REF_RGD_ID:25330344 12334241 MTUS1 microtubule associated scaffold protein 1 gene DOID:630 genetic disease ISO RGD:1343554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334269 SLC8A1 solute carrier family 8 member A1 gene DOID:10652 Alzheimer's disease ISO RGD:731021 D RGD:9068941 20200609 RGD protein:altered expression:synaptosome: PMID:21382638|REF_RGD_ID:13628395 12334269 SLC8A1 solute carrier family 8 member A1 gene DOID:10763 hypertension ISO RGD:3717 D RGD:9068941 20200609 RGD PMID:16343576|REF_RGD_ID:1598724 12334269 SLC8A1 solute carrier family 8 member A1 gene DOID:10763 hypertension ISO RGD:731021 D RGD:9068941 20200609 RGD DNA:SNP: :1784C>T PMID:15824464|REF_RGD_ID:1580586 12334269 SLC8A1 solute carrier family 8 member A1 gene DOID:10763 hypertension ISO RGD:731021 D RGD:9068941 20200609 RGD DNA:snps:intron:g.-23200T>C, g.-23181T>C (human) PMID:15785003|REF_RGD_ID:1580732 12334269 SLC8A1 solute carrier family 8 member A1 gene DOID:11372 megacolon ISO RGD:731021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12334269 SLC8A1 solute carrier family 8 member A1 gene DOID:12930 dilated cardiomyopathy ISO RGD:731022 D RGD:9068941 20200609 RGD PMID:23436819|REF_RGD_ID:10053661 12334269 SLC8A1 solute carrier family 8 member A1 gene DOID:1824 status epilepticus ISO RGD:3717 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:15461673|REF_RGD_ID:2316980 12334269 SLC8A1 solute carrier family 8 member A1 gene DOID:1824 status epilepticus ISO RGD:731021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20888801 12334269 SLC8A1 solute carrier family 8 member A1 gene DOID:2316 brain ischemia ISO RGD:3717 D RGD:9068941 20200609 RGD PMID:22036625|REF_RGD_ID:6771236 12334269 SLC8A1 solute carrier family 8 member A1 gene DOID:2316 brain ischemia ISO RGD:3717 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex (rat) PMID:12377375|REF_RGD_ID:727449 12334269 SLC8A1 solute carrier family 8 member A1 gene DOID:2316 brain ischemia ISO RGD:3717 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17662498|REF_RGD_ID:1642717 12334269 SLC8A1 solute carrier family 8 member A1 gene DOID:3883 Lynch syndrome ISO RGD:731021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12334269 SLC8A1 solute carrier family 8 member A1 gene DOID:6000 congestive heart failure ISO RGD:3717 D RGD:9068941 20200609 RGD protein:increased expression:cardiac muscle cell PMID:17536604|REF_RGD_ID:1642720 12334269 SLC8A1 solute carrier family 8 member A1 gene DOID:630 genetic disease ISO RGD:731021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334269 SLC8A1 solute carrier family 8 member A1 gene DOID:6432 pulmonary hypertension ISO RGD:731021 D RGD:9068941 20200609 RGD protein:increased expression:pulmonary artery, smooth muscle cell PMID:17192285|REF_RGD_ID:1642711 12334269 SLC8A1 solute carrier family 8 member A1 gene DOID:9003936 Cardiomegaly ISO RGD:3717 D RGD:9068941 20200609 RGD associated with Hypertension;protein:decreased activity:heart left ventricle, cardiac muscle cell PMID:15615841|REF_RGD_ID:1642713 12334269 SLC8A1 solute carrier family 8 member A1 gene DOID:9003936 Cardiomegaly ISO RGD:731022 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:heart PMID:17446477|REF_RGD_ID:1642725 12334269 SLC8A1 solute carrier family 8 member A1 gene DOID:9004009 Reperfusion Injury ISO RGD:3717 D RGD:9068941 20200609 RGD PMID:18037393|REF_RGD_ID:2316975 12334269 SLC8A1 solute carrier family 8 member A1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12334269 SLC8A1 solute carrier family 8 member A1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3717 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cardiac muscle cell PMID:10944172|REF_RGD_ID:1642714 12334269 SLC8A1 solute carrier family 8 member A1 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:3717 D RGD:9068941 20200609 RGD PMID:27058979|REF_RGD_ID:13628396 12334269 SLC8A1 solute carrier family 8 member A1 gene DOID:9007102 Myocardial Ischemia ISO RGD:731021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12334269 SLC8A1 solute carrier family 8 member A1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3717 D RGD:9068941 20200609 RGD PMID:17267548|REF_RGD_ID:1642729 12334269 SLC8A1 solute carrier family 8 member A1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3717 D RGD:9068941 20200609 RGD protein:increased activity:cardiac muscle cell PMID:17822695|REF_RGD_ID:1642716 12334269 SLC8A1 solute carrier family 8 member A1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15215644 12334322 NUP85 nucleoporin 85 gene DOID:0080392 nephrotic syndrome type 17 ISO RGD:1323659 D RGD:7240710 20190315 OMIM 12334322 NUP85 nucleoporin 85 gene DOID:0080392 nephrotic syndrome type 17 ISO RGD:1323659 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 17 PMID:25741868|PMID:28492532|PMID:30179222 12334322 NUP85 nucleoporin 85 gene DOID:630 genetic disease ISO RGD:1323659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12334349 MTMR6 myotubularin related protein 6 gene DOID:630 genetic disease ISO RGD:1313370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334367 CHP1 calcineurin like EF-hand protein 1 gene DOID:2717 Bloom syndrome ISO RGD:736499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12334367 CHP1 calcineurin like EF-hand protein 1 gene DOID:9000187 Spastic Ataxia 9, Autosomal Recessive ISO RGD:736499 D RGD:7240710 20190626 OMIM 12334367 CHP1 calcineurin like EF-hand protein 1 gene DOID:9256 colorectal cancer ISO RGD:736499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12334398 ZNF81 zinc finger protein 81 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12334398 ZNF81 zinc finger protein 81 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1346531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 12334398 ZNF81 zinc finger protein 81 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1346531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12334398 ZNF81 zinc finger protein 81 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1346531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12334398 ZNF81 zinc finger protein 81 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1346531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12334398 ZNF81 zinc finger protein 81 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1346531 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12334398 ZNF81 zinc finger protein 81 gene DOID:12849 autistic disorder ISO RGD:1346531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12334398 ZNF81 zinc finger protein 81 gene DOID:630 genetic disease ISO RGD:1346531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334412 FER1L6 fer-1 like family member 6 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1625099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12334412 FER1L6 fer-1 like family member 6 gene DOID:630 genetic disease ISO RGD:1625099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334464 FJX1 four-jointed box kinase 1 gene DOID:1059 intellectual disability ISO RGD:1314537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12334464 FJX1 four-jointed box kinase 1 gene DOID:630 genetic disease ISO RGD:1314537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334464 FJX1 four-jointed box kinase 1 gene DOID:9007502 Brain Neoplasms ISO RGD:1314537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 12334468 ZNF606 zinc finger protein 606 gene DOID:303 substance-related disorder ISO RGD:1320347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12334468 ZNF606 zinc finger protein 606 gene DOID:630 genetic disease ISO RGD:1320347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334490 SLC22A14 solute carrier family 22 member 14 gene DOID:0050451 Brugada syndrome ISO RGD:1315106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 12334490 SLC22A14 solute carrier family 22 member 14 gene DOID:630 genetic disease ISO RGD:1315106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334490 SLC22A14 solute carrier family 22 member 14 gene DOID:9001436 Immunodeficiency 68 ISO RGD:1315106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532 12334490 SLC22A14 solute carrier family 22 member 14 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1315106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 12334515 PLAGL2 PLAG1 like zinc finger 2 gene DOID:630 genetic disease ISO RGD:1317514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334524 KHDRBS1 KH RNA binding domain containing, signal transduction associated 1 gene DOID:1936 atherosclerosis ameliorates ISO RGD:734417 D RGD:9068941 20230330 RGD ApoE knockout mice PMID:30529164|REF_RGD_ID:243048424 12334524 KHDRBS1 KH RNA binding domain containing, signal transduction associated 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:734416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12334524 KHDRBS1 KH RNA binding domain containing, signal transduction associated 1 gene DOID:630 genetic disease ISO RGD:734416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334541 TGM7 transglutaminase 7 gene DOID:2717 Bloom syndrome ISO RGD:1316891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12334541 TGM7 transglutaminase 7 gene DOID:630 genetic disease ISO RGD:1316891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334541 TGM7 transglutaminase 7 gene DOID:9256 colorectal cancer ISO RGD:1316891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12334557 SOX13 SRY-box transcription factor 13 gene DOID:0080600 COVID-19 ISO RGD:1320144 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12334557 SOX13 SRY-box transcription factor 13 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1320144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12334557 SOX13 SRY-box transcription factor 13 gene DOID:12849 autistic disorder ISO RGD:1320144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12334557 SOX13 SRY-box transcription factor 13 gene DOID:1540 parathyroid carcinoma ISO RGD:1320144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12334557 SOX13 SRY-box transcription factor 13 gene DOID:630 genetic disease ISO RGD:1320144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334557 SOX13 SRY-box transcription factor 13 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1320144 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12334557 SOX13 SRY-box transcription factor 13 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12334574 CDK10 cyclin dependent kinase 10 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1312526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12334574 CDK10 cyclin dependent kinase 10 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1312526 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12334574 CDK10 cyclin dependent kinase 10 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1312526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 12334574 CDK10 cyclin dependent kinase 10 gene DOID:13636 Fanconi anemia ISO RGD:1312526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 12334574 CDK10 cyclin dependent kinase 10 gene DOID:14780 KBG syndrome ISO RGD:1312526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 12334574 CDK10 cyclin dependent kinase 10 gene DOID:630 genetic disease ISO RGD:1312526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26539891|PMID:29130579 12334574 CDK10 cyclin dependent kinase 10 gene DOID:9003087 Al Kaissi Syndrome ISO RGD:1312526 D RGD:7240710 20190315 OMIM 12334574 CDK10 cyclin dependent kinase 10 gene DOID:9003087 Al Kaissi Syndrome ISO RGD:1312526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Al Kaissi syndrome PMID:25741868|PMID:26539891|PMID:28886341|PMID:29130579 12334574 CDK10 cyclin dependent kinase 10 gene DOID:9008086 Developmental Disabilities ISO RGD:1312526 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12334610 RHBDD2 rhomboid domain containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12334610 RHBDD2 rhomboid domain containing 2 gene DOID:630 genetic disease ISO RGD:1317887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334610 RHBDD2 rhomboid domain containing 2 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1317887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12334679 C11H9orf152 chromosome 11 C9orf152 homolog gene DOID:630 genetic disease ISO RGD:1342470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334684 LOC100687115 transmembrane epididymal protein 1-like gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1606464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12334684 LOC100687115 transmembrane epididymal protein 1-like gene DOID:1540 parathyroid carcinoma ISO RGD:1606464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12334684 LOC100687115 transmembrane epididymal protein 1-like gene DOID:630 genetic disease ISO RGD:1606464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334684 LOC100687115 transmembrane epididymal protein 1-like gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1606464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12334684 LOC100687115 transmembrane epididymal protein 1-like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12334689 ZNF524 zinc finger protein 524 gene DOID:630 genetic disease ISO RGD:1351738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334698 LRCH3 leucine rich repeats and calponin homology domain containing 3 gene DOID:630 genetic disease ISO RGD:1314681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334725 COX7B2 cytochrome c oxidase subunit VIIb2 gene DOID:630 genetic disease ISO RGD:1353874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334725 COX7B2 cytochrome c oxidase subunit VIIb2 gene DOID:684 hepatocellular carcinoma ISO RGD:1353874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12334747 PDE1B phosphodiesterase 1B gene DOID:0080855 Parkinsonism ISO RGD:3278 D RGD:9068941 20200609 RGD PMID:15305867|REF_RGD_ID:2312524 12334747 PDE1B phosphodiesterase 1B gene DOID:630 genetic disease ISO RGD:735556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334747 PDE1B phosphodiesterase 1B gene DOID:8927 learning disability ISO RGD:735556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12077213 12334776 ACKR1 atypical chemokine receptor 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1347611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12334776 ACKR1 atypical chemokine receptor 1 gene DOID:12365 malaria ISO RGD:1347611 D RGD:7240710 20230505 OMIM 12334776 ACKR1 atypical chemokine receptor 1 gene DOID:12365 malaria ISO RGD:1347611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Plasmodium vivax, resistance to PMID:10570183|PMID:10791881|PMID:17304246|PMID:18179887|PMID:18621010|PMID:19180233|PMID:19620399|PMID:20932074|PMID:7663520|PMID:8547665|PMID:8651934 12334776 ACKR1 atypical chemokine receptor 1 gene DOID:12978 Plasmodium vivax malaria ISO RGD:1347611 D RGD:7240710 20200527 OMIM 12334776 ACKR1 atypical chemokine receptor 1 gene DOID:12978 Plasmodium vivax malaria ISO RGD:1347611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Resistance to Plasmodium vivax infection PMID:10570183|PMID:10791881|PMID:17304246|PMID:18179887|PMID:18621010|PMID:19180233|PMID:19620399|PMID:20932074|PMID:7663520|PMID:8547665|PMID:8651934 12334776 ACKR1 atypical chemokine receptor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1347611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12334776 ACKR1 atypical chemokine receptor 1 gene DOID:630 genetic disease ISO RGD:1347611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334776 ACKR1 atypical chemokine receptor 1 gene DOID:9005605 Arteriovenous Fistula ISO RGD:1596198 D RGD:9068941 20200609 RGD PMID:24429330|REF_RGD_ID:9681736 12334776 ACKR1 atypical chemokine receptor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12334788 TUBB3 tubulin beta 3 class III gene DOID:0050453 lissencephaly ISO RGD:1347965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:29671837 12334788 TUBB3 tubulin beta 3 class III gene DOID:0050952 spastic ataxia ISO RGD:1347965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 12334788 TUBB3 tubulin beta 3 class III gene DOID:0060246 MASA syndrome ISO RGD:1347965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked hydrocephalus syndrome PMID:25741868 12334788 TUBB3 tubulin beta 3 class III gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1347965 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12334788 TUBB3 tubulin beta 3 class III gene DOID:0080143 congenital fibrosis of the extraocular muscles ISO RGD:1347965 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles PMID:25741868 12334788 TUBB3 tubulin beta 3 class III gene DOID:0081017 congenital fibrosis of the extraocular muscles 3A ISO RGD:1347965 D RGD:7240710 20211103 OMIM 12334788 TUBB3 tubulin beta 3 class III gene DOID:0081017 congenital fibrosis of the extraocular muscles 3A ISO RGD:1347965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FEOM3 LOCUS | ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | ClinVar Annotator: match by term: TUBB3-Related Disorder | ClinVar Annotator: match by term: TUBB3-related tubulinopathy PMID:10393037|PMID:12073023|PMID:15223798|PMID:18414213|PMID:20074521|PMID:20301522|PMID:20829227|PMID:2133536|PMID:23378218|PMID:24257358|PMID:24612975|PMID:25131622|PMID:25482575|PMID:25741868|PMID:26639658|PMID:26775887|PMID:27046833|PMID:28492532|PMID:28677066|PMID:29269699|PMID:29382549|PMID:29453417|PMID:29706646|PMID:31219644|PMID:31226147|PMID:32573066|PMID:34652576|PMID:34863918|PMID:7724178 12334788 TUBB3 tubulin beta 3 class III gene DOID:0090137 complex cortical dysplasia with other brain malformations 1 ISO RGD:1347965 D RGD:7240710 20211103 OMIM 12334788 TUBB3 tubulin beta 3 class III gene DOID:0090137 complex cortical dysplasia with other brain malformations 1 ISO RGD:1347965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 1 PMID:18414213|PMID:20074521|PMID:20301522|PMID:20829227|PMID:23378218|PMID:25059107|PMID:25131622|PMID:25741868|PMID:26130693|PMID:26639658|PMID:26739025|PMID:28492532|PMID:28677066|PMID:28726809|PMID:29261186|PMID:29269699|PMID:29382549|PMID:29706646|PMID:30667171|PMID:31219644|PMID:31226147|PMID:31269740|PMID:32570172|PMID:32901917|PMID:33921132|PMID:34863918|PMID:34869359 12334788 TUBB3 tubulin beta 3 class III gene DOID:0110076 arrhythmogenic right ventricular dysplasia 8 ISO RGD:1347965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 12334788 TUBB3 tubulin beta 3 class III gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1347965 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12334788 TUBB3 tubulin beta 3 class III gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1347965 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:25741868 12334788 TUBB3 tubulin beta 3 class III gene DOID:10283 prostate cancer ISO RGD:1347965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12334788 TUBB3 tubulin beta 3 class III gene DOID:13636 Fanconi anemia ISO RGD:1347965 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 12334788 TUBB3 tubulin beta 3 class III gene DOID:630 genetic disease ISO RGD:1347965 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20074521|PMID:20301522|PMID:20829227|PMID:25131622|PMID:25741868|PMID:28492532|PMID:28677066|PMID:28726809|PMID:29261186|PMID:29382549|PMID:31219644|PMID:34869359 12334788 TUBB3 tubulin beta 3 class III gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1347965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:18414213|PMID:25741868|PMID:26130693|PMID:28492532|PMID:28677066|PMID:29261186|PMID:30667171|PMID:32570172|PMID:32901917 12334788 TUBB3 tubulin beta 3 class III gene DOID:9002762 Ovarian Neoplasms ISO RGD:1347965 D RGD:9068941 20211105 CTD CTD Direct Evidence: marker/mechanism PMID:18497984 12334788 TUBB3 tubulin beta 3 class III gene DOID:9008582 Developmental Disease ISO RGD:1347965 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:29269699|PMID:29706646 12334788 TUBB3 tubulin beta 3 class III gene DOID:9008939 Breast Neoplasms ISO RGD:1347965 D RGD:9068941 20211105 CTD CTD Direct Evidence: marker/mechanism PMID:21781528 12334798 IL1A interleukin 1 alpha gene DOID:0050152 aspiration pneumonia ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:Bronchoalveolar Lavage Fluid PMID:18042282|REF_RGD_ID:4142854 12334798 IL1A interleukin 1 alpha gene DOID:0050697 chorioamnionitis ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21493953 12334798 IL1A interleukin 1 alpha gene DOID:0050700 cardiomyopathy ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12334798 IL1A interleukin 1 alpha gene DOID:0060496 respiratory allergy ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:12663678|REF_RGD_ID:4143222 12334798 IL1A interleukin 1 alpha gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 12334798 IL1A interleukin 1 alpha gene DOID:0080642 Middle East respiratory syndrome onset ISO RGD:10789 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 12334798 IL1A interleukin 1 alpha gene DOID:0080745 polymyositis ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12334798 IL1A interleukin 1 alpha gene DOID:0080784 urinary tract infection ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:21690238|REF_RGD_ID:6907113 12334798 IL1A interleukin 1 alpha gene DOID:0080784 urinary tract infection ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:19171043|REF_RGD_ID:2311084 12334798 IL1A interleukin 1 alpha gene DOID:0081120 Graves ophthalmopathy ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:8444271|REF_RGD_ID:7794734 12334798 IL1A interleukin 1 alpha gene DOID:0081267 graft-versus-host disease ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-889T>C (rs1800587) (human) PMID:23645090|REF_RGD_ID:11049180 12334798 IL1A interleukin 1 alpha gene DOID:1002 endometritis ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:25330821|REF_RGD_ID:11059518 12334798 IL1A interleukin 1 alpha gene DOID:10126 keratoconus ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs2071376 (human) PMID:19043479|REF_RGD_ID:7794709 12334798 IL1A interleukin 1 alpha gene DOID:10223 dermatomyositis ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19035492 12334798 IL1A interleukin 1 alpha gene DOID:10327 anthracosis ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20005085 12334798 IL1A interleukin 1 alpha gene DOID:10459 common cold ISO RGD:735707 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus PMID:10358201|REF_RGD_ID:4143183 12334798 IL1A interleukin 1 alpha gene DOID:10652 Alzheimer's disease ISO RGD:735707 D RGD:9068941 20200609 RGD protein:increased expression:microglial cell, cortical layer: PMID:9775393|REF_RGD_ID:10046059 12334798 IL1A interleukin 1 alpha gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:5'UTR:rs1800587(human) PMID:11402127|REF_RGD_ID:10045947 12334798 IL1A interleukin 1 alpha gene DOID:10652 Alzheimer's disease no_association ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:5'UTR:rs1800587(human) PMID:19158434|REF_RGD_ID:10045945 12334798 IL1A interleukin 1 alpha gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:10716257|REF_RGD_ID:1358667 12334798 IL1A interleukin 1 alpha gene DOID:10754 otitis media ISO RGD:2890 D RGD:9068941 20200609 RGD associated with Haemophilus Infections;mRNA, protein:increased expression:middle ear PMID:18524391|REF_RGD_ID:4891398 12334798 IL1A interleukin 1 alpha gene DOID:10914 amnestic disorder ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8003924 12334798 IL1A interleukin 1 alpha gene DOID:10964 cholesteatoma of middle ear ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:12768791|PMID:7503375|REF_RGD_ID:11059515|REF_RGD_ID:7794712 12334798 IL1A interleukin 1 alpha gene DOID:11030 corneal edema ISO RGD:735707 D RGD:9068941 20200609 RGD mRNA:increased expression:cornea PMID:7657553|REF_RGD_ID:7794733 12334798 IL1A interleukin 1 alpha gene DOID:11476 osteoporosis ISO RGD:735707 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid PMID:10555884|REF_RGD_ID:6907107 12334798 IL1A interleukin 1 alpha gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:10789 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:8790403|REF_RGD_ID:10045948 12334798 IL1A interleukin 1 alpha gene DOID:12241 beta thalassemia ISO RGD:735707 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood, mononuclear cell PMID:21576933|REF_RGD_ID:11051969 12334798 IL1A interleukin 1 alpha gene DOID:12306 vitiligo ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28836394 12334798 IL1A interleukin 1 alpha gene DOID:12306 vitiligo ISO RGD:735707 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:16911396|REF_RGD_ID:7794736 12334798 IL1A interleukin 1 alpha gene DOID:12337 varicocele ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:16616101|REF_RGD_ID:2311094 12334798 IL1A interleukin 1 alpha gene DOID:12554 hemolytic-uremic syndrome ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15384034 12334798 IL1A interleukin 1 alpha gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12334798 IL1A interleukin 1 alpha gene DOID:12934 Kearns-Sayre syndrome ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12334798 IL1A interleukin 1 alpha gene DOID:13141 uveitis ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:8125721|REF_RGD_ID:7401166 12334798 IL1A interleukin 1 alpha gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:8699818|REF_RGD_ID:7794730 12334798 IL1A interleukin 1 alpha gene DOID:13250 diarrhea ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9278552 12334798 IL1A interleukin 1 alpha gene DOID:13580 cholestasis ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19535096|REF_RGD_ID:2311076 12334798 IL1A interleukin 1 alpha gene DOID:14499 Fabry disease ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-889C>T (human) PMID:17353161|REF_RGD_ID:6907117 12334798 IL1A interleukin 1 alpha gene DOID:1485 cystic fibrosis severity ISO RGD:735707 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8333775|REF_RGD_ID:4142849 12334798 IL1A interleukin 1 alpha gene DOID:1790 malignant mesothelioma ISO RGD:735707 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 12334798 IL1A interleukin 1 alpha gene DOID:1793 pancreatic cancer ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:7787209|REF_RGD_ID:2311069 12334798 IL1A interleukin 1 alpha gene DOID:2316 brain ischemia ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 12334798 IL1A interleukin 1 alpha gene DOID:2841 asthma ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:18763028|REF_RGD_ID:4142802 12334798 IL1A interleukin 1 alpha gene DOID:2921 glomerulonephritis ISO RGD:10789 D RGD:9068941 20200609 RGD associated with Malaria PMID:10469263|REF_RGD_ID:6907108 12334798 IL1A interleukin 1 alpha gene DOID:2945 severe acute respiratory syndrome ISO RGD:10789 D RGD:9068941 20200609 RGD mRNA:altered expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 12334798 IL1A interleukin 1 alpha gene DOID:2957 pulmonary tuberculosis ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:9176116|REF_RGD_ID:4142835 12334798 IL1A interleukin 1 alpha gene DOID:2986 IgA glomerulonephritis no_association ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:promoter PMID:21049406|REF_RGD_ID:6907116 12334798 IL1A interleukin 1 alpha gene DOID:3021 acute kidney failure ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:21716595|REF_RGD_ID:6907069 12334798 IL1A interleukin 1 alpha gene DOID:3042 allergic contact dermatitis ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23178550 12334798 IL1A interleukin 1 alpha gene DOID:3082 interstitial lung disease ISO RGD:2890 D RGD:9068941 20200609 RGD associated with Immune Complex Diseases PMID:1826836|REF_RGD_ID:7794767 12334798 IL1A interleukin 1 alpha gene DOID:3082 interstitial lung disease susceptibility ISO RGD:735707 D RGD:9068941 20200609 RGD associated with sclerosis: DNA:SNPs:5' UTR, exon, intron: PMID:12528118|REF_RGD_ID:4142806 12334798 IL1A interleukin 1 alpha gene DOID:310 MERRF Syndrome ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12334798 IL1A interleukin 1 alpha gene DOID:3687 MELAS syndrome ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12334798 IL1A interleukin 1 alpha gene DOID:37 skin disease ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:8524866|REF_RGD_ID:7794729 12334798 IL1A interleukin 1 alpha gene DOID:37 skin disease ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338|PMID:22533443 12334798 IL1A interleukin 1 alpha gene DOID:3770 pulmonary fibrosis ISO RGD:2890 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:alveolar macrophage PMID:9100454|REF_RGD_ID:4142838 12334798 IL1A interleukin 1 alpha gene DOID:3770 pulmonary fibrosis ISO RGD:735707 D RGD:9068941 20200609 RGD idiopathic pulmonary fibrosis; DNA:polymorphism:promoter: PMID:17309781|REF_RGD_ID:4142803 12334798 IL1A interleukin 1 alpha gene DOID:3908 lung non-small cell carcinoma ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:19505916|REF_RGD_ID:4142793 12334798 IL1A interleukin 1 alpha gene DOID:4109 tick infestation ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:7835923|REF_RGD_ID:7794724 12334798 IL1A interleukin 1 alpha gene DOID:4195 hyperglycemia ISO RGD:735707 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma PMID:18211631|REF_RGD_ID:2311062 12334798 IL1A interleukin 1 alpha gene DOID:4371 Schnitzler syndrome ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:1831824|REF_RGD_ID:7794711 12334798 IL1A interleukin 1 alpha gene DOID:4545 mesenchymal chondrosarcoma ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12817616 12334798 IL1A interleukin 1 alpha gene DOID:552 pneumonia ISO RGD:2890 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:8806881|REF_RGD_ID:7794765 12334798 IL1A interleukin 1 alpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27738319 12334798 IL1A interleukin 1 alpha gene DOID:630 genetic disease ISO RGD:735707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334798 IL1A interleukin 1 alpha gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-889C>T (human) PMID:8162643|REF_RGD_ID:7794716 12334798 IL1A interleukin 1 alpha gene DOID:699 mitochondrial myopathy ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12334798 IL1A interleukin 1 alpha gene DOID:705 Leber hereditary optic neuropathy ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12334798 IL1A interleukin 1 alpha gene DOID:7148 rheumatoid arthritis ISO RGD:735707 D RGD:9068941 20200609 RGD associated with lung disease, interstitial PMID:11192540|REF_RGD_ID:4142818 12334798 IL1A interleukin 1 alpha gene DOID:7148 rheumatoid arthritis severity ISO RGD:735707 D RGD:9068941 20200609 RGD protein:increased expression:plasma, synovial fluid PMID:8162643|REF_RGD_ID:7794716 12334798 IL1A interleukin 1 alpha gene DOID:783 end stage renal disease ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP, insertion/deletion:intron, 3' utr:rs1516792-3, rs16347-2 (human) PMID:12837270|REF_RGD_ID:6907105 12334798 IL1A interleukin 1 alpha gene DOID:783 end stage renal disease ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNPs, deletion, haplotypes:3' utr:multiple (human) PMID:12631337|REF_RGD_ID:6907106 12334798 IL1A interleukin 1 alpha gene DOID:783 end stage renal disease no_association ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP PMID:20551628|REF_RGD_ID:6907070 12334798 IL1A interleukin 1 alpha gene DOID:824 periodontitis ISO RGD:735707 D RGD:9068941 20200609 RGD mRNA:increased expression:gingiva PMID:22795294|REF_RGD_ID:6906881 12334798 IL1A interleukin 1 alpha gene DOID:8398 osteoarthritis ISO RGD:735707 D RGD:9068941 20200609 RGD protein:increased expression:chonodrocyte: PMID:9497936|REF_RGD_ID:10047053 12334798 IL1A interleukin 1 alpha gene DOID:841 extrinsic allergic alveolitis ISO RGD:10789 D RGD:9068941 20200609 RGD protein:increased expression:Bronchoalveolar Lavage Fluid PMID:10882225|REF_RGD_ID:4142832 12334798 IL1A interleukin 1 alpha gene DOID:850 lung disease ISO RGD:10789 D RGD:9068941 20200609 RGD lung injury; mRNA:increased expression:lung PMID:12377989|PMID:12745880|REF_RGD_ID:4142805|REF_RGD_ID:4142809 12334798 IL1A interleukin 1 alpha gene DOID:850 lung disease ISO RGD:735707 D RGD:9068941 20200609 RGD radiation pneumonitis; protein:increased expression:plasma PMID:11917281|REF_RGD_ID:4142811 12334798 IL1A interleukin 1 alpha gene DOID:869 cholesteatoma ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:1384343|REF_RGD_ID:7401205 12334798 IL1A interleukin 1 alpha gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-899C>T (human) PMID:21591983|REF_RGD_ID:11051966 12334798 IL1A interleukin 1 alpha gene DOID:8947 diabetic retinopathy ISO RGD:735707 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor PMID:18978347|REF_RGD_ID:2307061 12334798 IL1A interleukin 1 alpha gene DOID:9000046 Poisoning treatment ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:1868253|REF_RGD_ID:11051971 12334798 IL1A interleukin 1 alpha gene DOID:9000046 Poisoning treatment ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:2258610|REF_RGD_ID:11059514 12334798 IL1A interleukin 1 alpha gene DOID:9000111 Radiation Injuries ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:7938676|REF_RGD_ID:7794763 12334798 IL1A interleukin 1 alpha gene DOID:9000540 HIV Wasting Syndrome ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12334798 IL1A interleukin 1 alpha gene DOID:9000918 Disease Progression ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27738319 12334798 IL1A interleukin 1 alpha gene DOID:9000972 Fever ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15384034 12334798 IL1A interleukin 1 alpha gene DOID:9000998 Brain Injuries ISO RGD:2890 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:16024175|REF_RGD_ID:2311098 12334798 IL1A interleukin 1 alpha gene DOID:9000998 Brain Injuries ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 12334798 IL1A interleukin 1 alpha gene DOID:9001109 Anorexia ISO RGD:2890 D RGD:9068941 20200609 RGD associated with Sarcoma, Experimental;protein:increased expression:cerebrospinal fluid PMID:8748250|REF_RGD_ID:7794755 12334798 IL1A interleukin 1 alpha gene DOID:9001472 Nasal Polyps ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNPs:exon: PMID:17638785|REF_RGD_ID:4142855 12334798 IL1A interleukin 1 alpha gene DOID:9001472 Nasal Polyps susceptibility ISO RGD:735707 D RGD:9068941 20200609 RGD associated with asthma; DNA:polymorphism:exon: PMID:12752325|REF_RGD_ID:4142804 12334798 IL1A interleukin 1 alpha gene DOID:9001488 Human Influenza ISO RGD:10789 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11535264|REF_RGD_ID:4142860 12334798 IL1A interleukin 1 alpha gene DOID:9001600 Wounds and Injuries ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:18638276|REF_RGD_ID:2311088 12334798 IL1A interleukin 1 alpha gene DOID:9001708 Hemorrhagic Shock ISO RGD:2890 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15580020|REF_RGD_ID:2311100 12334798 IL1A interleukin 1 alpha gene DOID:9001725 Retina Reperfusion Injury ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:7890488|REF_RGD_ID:7401191 12334798 IL1A interleukin 1 alpha gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2890 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19595018|REF_RGD_ID:2314952 12334798 IL1A interleukin 1 alpha gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19283466|REF_RGD_ID:6907377 12334798 IL1A interleukin 1 alpha gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:9840148|REF_RGD_ID:11059517 12334798 IL1A interleukin 1 alpha gene DOID:9002211 Hyperalgesia ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12727271 12334798 IL1A interleukin 1 alpha gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:19074885|REF_RGD_ID:11051968 12334798 IL1A interleukin 1 alpha gene DOID:9002231 Fetal Growth Retardation ISO RGD:735707 D RGD:9068941 20200609 RGD mRNA:increased expression:placenta PMID:11005132|REF_RGD_ID:2311066 12334798 IL1A interleukin 1 alpha gene DOID:9002331 Knee Osteoarthritis ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:9497937|REF_RGD_ID:10046057 12334798 IL1A interleukin 1 alpha gene DOID:9002331 Knee Osteoarthritis ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:cartilage cell: PMID:24534736|REF_RGD_ID:10045944 12334798 IL1A interleukin 1 alpha gene DOID:9002331 Knee Osteoarthritis ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:9034998|REF_RGD_ID:10045946 12334798 IL1A interleukin 1 alpha gene DOID:9002457 Experimental Arthritis ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:20379758|REF_RGD_ID:6907373 12334798 IL1A interleukin 1 alpha gene DOID:9002457 Experimental Arthritis ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19169271|REF_RGD_ID:8662976 12334798 IL1A interleukin 1 alpha gene DOID:9002805 Enterocolitis ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:8144001|REF_RGD_ID:2311103 12334798 IL1A interleukin 1 alpha gene DOID:9003036 Oral Lichen Planus treatment ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:16476030|REF_RGD_ID:7794728 12334798 IL1A interleukin 1 alpha gene DOID:9003219 Invasive Pulmonary Aspergillosis ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype:promoter:-889C>T (human) PMID:18484169|REF_RGD_ID:4142867 12334798 IL1A interleukin 1 alpha gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:c.4845G>T (human) PMID:14533660|REF_RGD_ID:4142859 12334798 IL1A interleukin 1 alpha gene DOID:9003730 Chemical Burns ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 12334798 IL1A interleukin 1 alpha gene DOID:9003871 Venous Thrombosis ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:17651586|REF_RGD_ID:2311092 12334798 IL1A interleukin 1 alpha gene DOID:9004009 Reperfusion Injury ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23875703 12334798 IL1A interleukin 1 alpha gene DOID:9004118 Experimental Melanoma treatment ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:8061895|REF_RGD_ID:7794735 12334798 IL1A interleukin 1 alpha gene DOID:9004441 Experimental Leukemia treatment ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:2117483|REF_RGD_ID:11051972 12334798 IL1A interleukin 1 alpha gene DOID:9004464 Skin Neoplasms ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8435107 12334798 IL1A interleukin 1 alpha gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:735707 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung PMID:7666093|REF_RGD_ID:11051963 12334798 IL1A interleukin 1 alpha gene DOID:9004593 Drug-Induced Immune Thrombocytopenia treatment ISO RGD:735707 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung PMID:7666093|REF_RGD_ID:11051963 12334798 IL1A interleukin 1 alpha gene DOID:9004593 Drug-Induced Immune Thrombocytopenia treatment ISO RGD:735707 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms PMID:8151314|REF_RGD_ID:11051964 12334798 IL1A interleukin 1 alpha gene DOID:9004649 Heat Stroke ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19295493|REF_RGD_ID:6907071 12334798 IL1A interleukin 1 alpha gene DOID:9004649 Heat Stroke ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 12334798 IL1A interleukin 1 alpha gene DOID:9005372 Inflammation ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21467745|PMID:22163019 12334798 IL1A interleukin 1 alpha gene DOID:9005372 Inflammation ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:2636224|REF_RGD_ID:7794766 12334798 IL1A interleukin 1 alpha gene DOID:9005372 Inflammation treatment ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:8761432|REF_RGD_ID:7794725 12334798 IL1A interleukin 1 alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:20555424|REF_RGD_ID:4142788 12334798 IL1A interleukin 1 alpha gene DOID:9005930 Endotoxemia ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:9636192|REF_RGD_ID:6907109 12334798 IL1A interleukin 1 alpha gene DOID:9005930 Endotoxemia ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22426124|REF_RGD_ID:7794786 12334798 IL1A interleukin 1 alpha gene DOID:9006024 Hypotension ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15384034 12334798 IL1A interleukin 1 alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12334798 IL1A interleukin 1 alpha gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8218930 12334798 IL1A interleukin 1 alpha gene DOID:9007621 Craniocerebral Trauma ISO RGD:735707 D RGD:9068941 20200609 RGD protein:increased expression:microglial cell PMID:7830934|REF_RGD_ID:10045949 12334798 IL1A interleukin 1 alpha gene DOID:9007730 Burns ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10431976 12334798 IL1A interleukin 1 alpha gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:7622355|REF_RGD_ID:7794764 12334798 IL1A interleukin 1 alpha gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:8576926|REF_RGD_ID:7794741 12334798 IL1A interleukin 1 alpha gene DOID:9007896 Sclerosis susceptibility ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNPs:5' UTR, exon, intron: PMID:12528118|REF_RGD_ID:4142806 12334798 IL1A interleukin 1 alpha gene DOID:9007964 Arsenic Poisoning ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12334798 IL1A interleukin 1 alpha gene DOID:9008217 Hemorrhage ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:9326742|REF_RGD_ID:11059516 12334798 IL1A interleukin 1 alpha gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:735707 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung: DNA:SNPs: :rs1800587,rs17561(human) PMID:20811626|REF_RGD_ID:5131286 12334798 IL1A interleukin 1 alpha gene DOID:9008763 Femoral Fractures ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:lung, serum PMID:21442011|REF_RGD_ID:5131471 12334798 IL1A interleukin 1 alpha gene DOID:9119 acute myeloid leukemia treatment ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:2460157|REF_RGD_ID:11051965 12334798 IL1A interleukin 1 alpha gene DOID:9383 iridocyclitis ISO RGD:735707 D RGD:9068941 20200609 RGD associated with Arthritis, Juvenile;DNA:SNP:promoter:-889C>T (human) PMID:8162643|REF_RGD_ID:7794716 12334798 IL1A interleukin 1 alpha gene DOID:9538 multiple myeloma ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:1777241|REF_RGD_ID:11059513 12334798 IL1A interleukin 1 alpha gene DOID:9538 multiple myeloma ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-511C>T (human) PMID:25469832|REF_RGD_ID:11049156 12334798 IL1A interleukin 1 alpha gene DOID:9538 multiple myeloma ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-889C>T (human) PMID:17926179|REF_RGD_ID:11051973 12334798 IL1A interleukin 1 alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:10789 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreatic islet, leukocyte PMID:8612552|REF_RGD_ID:2311067 12334798 IL1A interleukin 1 alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:17953531|PMID:2405400|REF_RGD_ID:2311064|REF_RGD_ID:2311075 12334798 IL1A interleukin 1 alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:735707 D RGD:9068941 20200609 RGD protein:increased expression:small intestine mucosa PMID:12941768|REF_RGD_ID:2311065 12334812 LAMA5 laminin subunit alpha 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12334812 LAMA5 laminin subunit alpha 5 gene DOID:0060327 omphalocele ISO RGD:1354079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Omphalocoele PMID:25741868|PMID:32439764 12334812 LAMA5 laminin subunit alpha 5 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1354079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12334812 LAMA5 laminin subunit alpha 5 gene DOID:0080918 polymicrogyria ISO RGD:1354079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:28492532|PMID:29706646 12334812 LAMA5 laminin subunit alpha 5 gene DOID:0111365 benign familial hematuria ISO RGD:1354079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hematuria PMID:28492532|PMID:29764427 12334812 LAMA5 laminin subunit alpha 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1354079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12334812 LAMA5 laminin subunit alpha 5 gene DOID:10283 prostate cancer ISO RGD:1354079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12334812 LAMA5 laminin subunit alpha 5 gene DOID:1184 nephrotic syndrome ISO RGD:1354079 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:23999528|PMID:25741868|PMID:26553438|PMID:28492532|PMID:29534211|PMID:31321674 12334812 LAMA5 laminin subunit alpha 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1354079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12334812 LAMA5 laminin subunit alpha 5 gene DOID:2975 cystic kidney disease ISO RGD:1551147 D RGD:9068941 20220825 MouseDO 12334812 LAMA5 laminin subunit alpha 5 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1354079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Presynaptic congenital myasthenic syndromes PMID:25741868|PMID:28544784 12334812 LAMA5 laminin subunit alpha 5 gene DOID:4621 holoprosencephaly ISO RGD:1354079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:25741868|PMID:28492532|PMID:28735299|PMID:29534211|PMID:31680349 12334812 LAMA5 laminin subunit alpha 5 gene DOID:630 genetic disease ISO RGD:1354079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23265383|PMID:25741868|PMID:28492532 12334812 LAMA5 laminin subunit alpha 5 gene DOID:9000363 Hematuria ISO RGD:1354079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macroscopic hematuria PMID:25741868 12334812 LAMA5 laminin subunit alpha 5 gene DOID:9001258 Bent Bone Dysplasia Syndrome 1 ISO RGD:1354079 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: distinct bent bone dysplasia PMID:28492532|PMID:33242826 12334812 LAMA5 laminin subunit alpha 5 gene DOID:9002189 High Myopia ISO RGD:1354079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532 12334812 LAMA5 laminin subunit alpha 5 gene DOID:9005870 Nephrotic Syndrome Type 26 ISO RGD:1354079 D RGD:7240710 20221012 OMIM 12334812 LAMA5 laminin subunit alpha 5 gene DOID:9005870 Nephrotic Syndrome Type 26 ISO RGD:1354079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 26 PMID:25741868|PMID:28492532|PMID:29534211|PMID:32439764|PMID:35419533 12334812 LAMA5 laminin subunit alpha 5 gene DOID:9006726 Bent Bone Dysplasia Syndrome 2 ISO RGD:1354079 D RGD:7240710 20221102 OMIM 12334812 LAMA5 laminin subunit alpha 5 gene DOID:9006726 Bent Bone Dysplasia Syndrome 2 ISO RGD:1354079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bent bone dysplasia syndrome 2 PMID:28492532|PMID:33242826 12334812 LAMA5 laminin subunit alpha 5 gene DOID:9007661 Dwarfism ISO RGD:1354079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:28492532 12334812 LAMA5 laminin subunit alpha 5 gene DOID:9008582 Developmental Disease ISO RGD:1354079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12334861 SLC29A1 solute carrier family 29 member 1 gene DOID:0050741 alcohol dependence ISO RGD:62192 D RGD:9068941 20220825 MouseDO OMIM:103780 12334861 SLC29A1 solute carrier family 29 member 1 gene DOID:1098 fetal erythroblastosis ISO RGD:737565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal Erythroblastosis 12334861 SLC29A1 solute carrier family 29 member 1 gene DOID:12858 Huntington's disease ISO RGD:737565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27567601 12334861 SLC29A1 solute carrier family 29 member 1 gene DOID:1793 pancreatic cancer ISO RGD:737565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18728667 12334861 SLC29A1 solute carrier family 29 member 1 gene DOID:2316 brain ischemia ISO RGD:61899 D RGD:9068941 20200609 RGD PMID:15829178|REF_RGD_ID:2316942 12334861 SLC29A1 solute carrier family 29 member 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:737565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 12334861 SLC29A1 solute carrier family 29 member 1 gene DOID:630 genetic disease ISO RGD:737565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334861 SLC29A1 solute carrier family 29 member 1 gene DOID:6652 diffuse idiopathic skeletal hyperostosis ISO RGD:62192 D RGD:9068941 20220825 MouseDO OMIM:106400 12334861 SLC29A1 solute carrier family 29 member 1 gene DOID:9004120 Alcohol Withdrawal Seizures ISO RGD:737565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21283641 12334861 SLC29A1 solute carrier family 29 member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61899 D RGD:9068941 20200609 RGD mRNA:decreased expression:cardiac muscle cell PMID:16873415|REF_RGD_ID:2316941 12334861 SLC29A1 solute carrier family 29 member 1 gene DOID:9006205 Animal Disease Models ISO RGD:737565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27567601 12334891 AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 gene DOID:0050553 JMP syndrome ISO RGD:1348475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12334891 AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 gene DOID:13641 exfoliation syndrome ISO RGD:1348475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28553957 12334891 AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 gene DOID:630 genetic disease ISO RGD:1348475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334914 SLC4A4 solute carrier family 4 member 4 gene DOID:0080600 COVID-19 ISO RGD:68964 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12334914 SLC4A4 solute carrier family 4 member 4 gene DOID:10763 hypertension ISO RGD:68936 D RGD:9068941 20200609 RGD protein:increased expression:kidney cortex PMID:15340004|REF_RGD_ID:1600028 12334914 SLC4A4 solute carrier family 4 member 4 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:68936 D RGD:9068941 20200609 RGD protein:increased expression:kidney cortex PMID:12944321|REF_RGD_ID:1600034 12334914 SLC4A4 solute carrier family 4 member 4 gene DOID:14219 renal tubular acidosis ISO RGD:1332483 D RGD:9068941 20220825 MouseDO OMIM:179830 | OMIM:267200 | OMIM:602722 12334914 SLC4A4 solute carrier family 4 member 4 gene DOID:14219 renal tubular acidosis ISO RGD:68964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18614622 12334914 SLC4A4 solute carrier family 4 member 4 gene DOID:14219 renal tubular acidosis susceptibility ISO RGD:68964 D RGD:9068941 20200609 RGD DNA:point mutations: ; 1043A>C, 1678G>A PMID:10545938|REF_RGD_ID:61794 12334914 SLC4A4 solute carrier family 4 member 4 gene DOID:1686 glaucoma ISO RGD:68964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18614622 12334914 SLC4A4 solute carrier family 4 member 4 gene DOID:3910 lung adenocarcinoma ISO RGD:68964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12334914 SLC4A4 solute carrier family 4 member 4 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:68964 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 12334914 SLC4A4 solute carrier family 4 member 4 gene DOID:630 genetic disease ISO RGD:68964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12334914 SLC4A4 solute carrier family 4 member 4 gene DOID:83 cataract ISO RGD:68964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18614622 12334914 SLC4A4 solute carrier family 4 member 4 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:68964 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12334914 SLC4A4 solute carrier family 4 member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12334914 SLC4A4 solute carrier family 4 member 4 gene DOID:9006205 Animal Disease Models ISO RGD:68964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12334914 SLC4A4 solute carrier family 4 member 4 gene DOID:9007464 Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation ISO RGD:68964 D RGD:7240710 20180130 OMIM 12334914 SLC4A4 solute carrier family 4 member 4 gene DOID:9007464 Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation ISO RGD:68964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RTA, PROXIMAL, AUTOSOMAL RECESSIVE PMID:10545938|PMID:11274232|PMID:18658147|PMID:20197274|PMID:21234596|PMID:23362273|PMID:25741868|PMID:28492532 12334914 SLC4A4 solute carrier family 4 member 4 gene DOID:9008086 Developmental Disabilities ISO RGD:68964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18614622 12334914 SLC4A4 solute carrier family 4 member 4 gene DOID:9008606 Corneal Opacity ISO RGD:68964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18614622 12334943 FAT1 FAT atypical cadherin 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:732532 D RGD:9068941 20220204 RGD protein:increased expression:tongue (mouse) PMID:30624777|REF_RGD_ID:151347668 12334943 FAT1 FAT atypical cadherin 1 gene DOID:0050866 oral squamous cell carcinoma onset ISO RGD:732531 D RGD:9068941 20220204 RGD DNA:mutations:multiple PMID:28435450|REF_RGD_ID:151347687 12334943 FAT1 FAT atypical cadherin 1 gene DOID:0060673 Peters anomaly ISO RGD:732531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459|PMID:28492532 12334943 FAT1 FAT atypical cadherin 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:732531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12334943 FAT1 FAT atypical cadherin 1 gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:732531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome 12334943 FAT1 FAT atypical cadherin 1 gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:732532 D RGD:9068941 20220825 MouseDO OMIM:158900 | OMIM:158901 12334943 FAT1 FAT atypical cadherin 1 gene DOID:1184 nephrotic syndrome ISO RGD:732531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:26905694|PMID:28492532 12334943 FAT1 FAT atypical cadherin 1 gene DOID:12849 autistic disorder ISO RGD:732531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12334943 FAT1 FAT atypical cadherin 1 gene DOID:1324 lung cancer ISO RGD:732531 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12334943 FAT1 FAT atypical cadherin 1 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:732531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:28492532 12334943 FAT1 FAT atypical cadherin 1 gene DOID:2229 factor XI deficiency ISO RGD:732531 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:34355501 12334943 FAT1 FAT atypical cadherin 1 gene DOID:3068 glioblastoma ISO RGD:732531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23354438 12334943 FAT1 FAT atypical cadherin 1 gene DOID:3151 skin squamous cell carcinoma disease_progression ISO RGD:732532 D RGD:9068941 20220128 RGD associated with Neoplasm Metastasis PMID:33328637|REF_RGD_ID:151347447 12334943 FAT1 FAT atypical cadherin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 12334943 FAT1 FAT atypical cadherin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732531 D RGD:9068941 20220204 RGD PMID:24590895|REF_RGD_ID:151347630 12334943 FAT1 FAT atypical cadherin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732531 D RGD:9068941 20220204 RGD protein:decreased expression:esophagus squamous epithelium (human) PMID:29365412|REF_RGD_ID:151347646 12334943 FAT1 FAT atypical cadherin 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732531 D RGD:9068941 20220407 CTD CTD Direct Evidence: therapeutic PMID:34390292 12334943 FAT1 FAT atypical cadherin 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732531 D RGD:9068941 20220204 RGD PMID:31085721|REF_RGD_ID:151347689 12334943 FAT1 FAT atypical cadherin 1 gene DOID:5409 lung small cell carcinoma ISO RGD:732531 D RGD:9068941 20220204 RGD DNA:mutations:multiple (human) PMID:31199602|REF_RGD_ID:150429733 12334943 FAT1 FAT atypical cadherin 1 gene DOID:630 genetic disease ISO RGD:732531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12334943 FAT1 FAT atypical cadherin 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:732531 D RGD:9068941 20220204 RGD mRNA,protein:increased expression:liver (human) PMID:24590895|REF_RGD_ID:151347630 12334943 FAT1 FAT atypical cadherin 1 gene DOID:9000918 Disease Progression ISO RGD:732531 D RGD:9068941 20220407 CTD CTD Direct Evidence: therapeutic PMID:34390292 12334943 FAT1 FAT atypical cadherin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12334943 FAT1 FAT atypical cadherin 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:732531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12334943 FAT1 FAT atypical cadherin 1 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:732531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23354438 12334943 FAT1 FAT atypical cadherin 1 gene DOID:9006836 Contracture ISO RGD:732531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Contractures PMID:26489027|PMID:28492532 12334943 FAT1 FAT atypical cadherin 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23354438 12334943 FAT1 FAT atypical cadherin 1 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:732531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 12334943 FAT1 FAT atypical cadherin 1 gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:732531 D RGD:9068941 20220204 RGD left-sided colorectal cancer;DNA:mutations:multiple (human) PMID:33106877|REF_RGD_ID:150539450 12334943 FAT1 FAT atypical cadherin 1 gene DOID:9538 multiple myeloma ISO RGD:732531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12334994 DIS3L DIS3 like exosome 3'-5' exoribonuclease gene DOID:10283 prostate cancer ISO RGD:1606984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12334994 DIS3L DIS3 like exosome 3'-5' exoribonuclease gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1606984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12334994 DIS3L DIS3 like exosome 3'-5' exoribonuclease gene DOID:2717 Bloom syndrome ISO RGD:1606984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12334994 DIS3L DIS3 like exosome 3'-5' exoribonuclease gene DOID:630 genetic disease ISO RGD:1606984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12334994 DIS3L DIS3 like exosome 3'-5' exoribonuclease gene DOID:9256 colorectal cancer ISO RGD:1606984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12335012 ANO8 anoctamin 8 gene DOID:630 genetic disease ISO RGD:1349559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335034 TRIM66 tripartite motif containing 66 gene DOID:630 genetic disease ISO RGD:1344439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335078 SWAP70 switching B cell complex subunit SWAP70 gene DOID:630 genetic disease ISO RGD:1604631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335097 VWA8 von Willebrand factor A domain containing 8 gene DOID:12849 autistic disorder ISO RGD:1604630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20663923 12335097 VWA8 von Willebrand factor A domain containing 8 gene DOID:630 genetic disease ISO RGD:1604630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335097 VWA8 von Willebrand factor A domain containing 8 gene DOID:9008086 Developmental Disabilities ISO RGD:1604630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:34660594|PMID:36937954 12335146 TBC1D5 TBC1 domain family member 5 gene DOID:0060417 3p deletion syndrome ISO RGD:1321047 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12335146 TBC1D5 TBC1 domain family member 5 gene DOID:630 genetic disease ISO RGD:1321047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335191 SLA2 Src like adaptor 2 gene DOID:2234 focal epilepsy ISO RGD:1320351 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12335191 SLA2 Src like adaptor 2 gene DOID:630 genetic disease ISO RGD:1320351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335203 CACNB3 calcium voltage-gated channel auxiliary subunit beta 3 gene DOID:5119 ovarian cyst ISO RGD:735859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12335203 CACNB3 calcium voltage-gated channel auxiliary subunit beta 3 gene DOID:630 genetic disease ISO RGD:735859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335203 CACNB3 calcium voltage-gated channel auxiliary subunit beta 3 gene DOID:9003740 Nerve Injuries ISO RGD:2248 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:dorsal root ganglion: PMID:22187436|REF_RGD_ID:13514092 12335220 CCDC28B coiled-coil domain containing 28B gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1603961 D RGD:7240710 20180130 OMIM 12335220 CCDC28B coiled-coil domain containing 28B gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1603961 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of PMID:12677556|PMID:16327777|PMID:25741868|PMID:28492532|PMID:29127258 12335220 CCDC28B coiled-coil domain containing 28B gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12677556|PMID:16327777|PMID:29127258 12335220 CCDC28B coiled-coil domain containing 28B gene DOID:630 genetic disease ISO RGD:1603961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335241 URB1 URB1 ribosome biogenesis homolog gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1353651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12335241 URB1 URB1 ribosome biogenesis homolog gene DOID:0060898 Parkinson's disease 20 ISO RGD:1353651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12335241 URB1 URB1 ribosome biogenesis homolog gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1353651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12335241 URB1 URB1 ribosome biogenesis homolog gene DOID:630 genetic disease ISO RGD:1353651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335241 URB1 URB1 ribosome biogenesis homolog gene DOID:9005698 ZTTK Syndrome ISO RGD:1353651 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 12335241 URB1 URB1 ribosome biogenesis homolog gene DOID:9006725 Glucocorticoid Deficiency 2 ISO RGD:1353651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 2 PMID:28492532 12335298 EAPP E2F associated phosphoprotein gene DOID:630 genetic disease ISO RGD:1320061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335298 EAPP E2F associated phosphoprotein gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1320061 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12335311 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1343012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 12335311 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1343012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12335311 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1343012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 12335311 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12335311 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:1343012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 PMID:25741868 12335311 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1343012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12335311 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1343012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 12335311 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0110169 Charcot-Marie-Tooth disease axonal type 2P ISO RGD:1343012 D RGD:7240710 20180130 OMIM 12335311 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0110169 Charcot-Marie-Tooth disease axonal type 2P ISO RGD:1343012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2P PMID:14985381|PMID:16199547|PMID:17576681|PMID:20865121|PMID:22012984|PMID:22781092|PMID:24894446|PMID:25741868|PMID:26392352|PMID:26752306|PMID:26900582|PMID:27164712|PMID:27462242|PMID:27615052|PMID:27686364|PMID:28286897|PMID:28335037|PMID:28492532|PMID:28600779|PMID:29341362|PMID:29417091|PMID:29845787|PMID:3022865|PMID:30996334|PMID:31852984|PMID:32376792|PMID:33414056|PMID:33568173|PMID:9536098 12335311 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12335311 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1343012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:16199547|PMID:17576681|PMID:20865121|PMID:22012984|PMID:22781092|PMID:24894446|PMID:25741868|PMID:26752306|PMID:28286897|PMID:28335037|PMID:28492532|PMID:29417091|PMID:29845787|PMID:32376792|PMID:33414056|PMID:9536098 12335311 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:630 genetic disease ISO RGD:1343012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20865121|PMID:22012984|PMID:25741868|PMID:26392352|PMID:26752306|PMID:27462242|PMID:28335037|PMID:28492532|PMID:28600779|PMID:29417091|PMID:30996334|PMID:32376792|PMID:33414056|PMID:9536098 12335311 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:9003332 Charcot-Marie-Tooth Disease Type 4A, Axonal Form ISO RGD:1343012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22781092|PMID:27686364 12335345 DLA-12 MHC class I DLA-12 gene DOID:0080820 occupational asthma susceptibility ISO RGD:1353823 D RGD:9068941 20220901 RGD DNA:SNP: :rs1573294(human) PMID:24709764|REF_RGD_ID:13506912 12335345 DLA-12 MHC class I DLA-12 gene DOID:11372 megacolon ISO RGD:1353823 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12335345 DLA-12 MHC class I DLA-12 gene DOID:9088 parapsoriasis ISO RGD:1353823 D RGD:9068941 20220901 CTD CTD Direct Evidence: marker/mechanism PMID:16538176 12335362 ZNF706 zinc finger protein 706 gene DOID:0111590 Cohen syndrome ISO RGD:1602889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12335369 CEP104 centrosomal protein 104 gene DOID:0050753 cerebellar ataxia ISO RGD:1605416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:32581362 12335369 CEP104 centrosomal protein 104 gene DOID:0050777 Joubert syndrome ISO RGD:1605416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders 12335369 CEP104 centrosomal protein 104 gene DOID:0050777 Joubert syndrome ISO RGD:1605416 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:26477546|PMID:28492532|PMID:35372954 12335369 CEP104 centrosomal protein 104 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1605416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12335369 CEP104 centrosomal protein 104 gene DOID:0060041 autism spectrum disorder ISO RGD:1605416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12335369 CEP104 centrosomal protein 104 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1605416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12335369 CEP104 centrosomal protein 104 gene DOID:0081236 autosomal recessive intellectual developmental disorder 77 ISO RGD:1605416 D RGD:7240710 20220831 OMIM 12335369 CEP104 centrosomal protein 104 gene DOID:0081236 autosomal recessive intellectual developmental disorder 77 ISO RGD:1605416 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 77 PMID:34196201|PMID:35359234 12335369 CEP104 centrosomal protein 104 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1605416 D RGD:7240710 20190315 OMIM 12335369 CEP104 centrosomal protein 104 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1605416 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:17576681|PMID:19492091|PMID:21031596|PMID:25741868|PMID:26477546|PMID:28492532|PMID:31674007|PMID:35372954|PMID:9536098|PMID:9683594 12335369 CEP104 centrosomal protein 104 gene DOID:0111934 immunodeficiency 38 ISO RGD:1605416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12335369 CEP104 centrosomal protein 104 gene DOID:0111935 immunodeficiency 16 ISO RGD:1605416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12335369 CEP104 centrosomal protein 104 gene DOID:630 genetic disease ISO RGD:1605416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12335369 CEP104 centrosomal protein 104 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12335369 CEP104 centrosomal protein 104 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1605416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12335401 CDKN2AIP CDKN2A interacting protein gene DOID:10283 prostate cancer ISO RGD:1604354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12335401 CDKN2AIP CDKN2A interacting protein gene DOID:630 genetic disease ISO RGD:1604354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335408 FIGNL2 fidgetin like 2 gene DOID:630 genetic disease ISO RGD:1603328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335416 METRNL meteorin like, glial cell differentiation regulator gene DOID:10603 glucose intolerance ISO RGD:1348183 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30213948 12335416 METRNL meteorin like, glial cell differentiation regulator gene DOID:630 genetic disease ISO RGD:1348183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335416 METRNL meteorin like, glial cell differentiation regulator gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12335416 METRNL meteorin like, glial cell differentiation regulator gene DOID:9004657 Weight Gain ISO RGD:1348183 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30213948 12335416 METRNL meteorin like, glial cell differentiation regulator gene DOID:9007692 Insulin Resistance ISO RGD:1348183 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30213948 12335417 CHST14 carbohydrate sulfotransferase 14 gene DOID:0060041 autism spectrum disorder ISO RGD:1348543 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12335417 CHST14 carbohydrate sulfotransferase 14 gene DOID:0080736 Ehlers-Danlos syndrome musculocontractural type 1 ISO RGD:1348543 D RGD:7240710 20180130 OMIM 12335417 CHST14 carbohydrate sulfotransferase 14 gene DOID:0080736 Ehlers-Danlos syndrome musculocontractural type 1 ISO RGD:1348543 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS | ClinVar Annotator: match by term: Adducted Thumb-Clubfoot Syndrome | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 1 PMID:10766984|PMID:11370633|PMID:1184396|PMID:12508273|PMID:16158441|PMID:20004762|PMID:20503305|PMID:20533528|PMID:20842734|PMID:21744491|PMID:2202212|PMID:22581468|PMID:25188385|PMID:25348902|PMID:25741868|PMID:26373698|PMID:26872206|PMID:26925854|PMID:28238810|PMID:28306225|PMID:28346368|PMID:28492532|PMID:31905796|PMID:32214361|PMID:32629534|PMID:9084938 12335417 CHST14 carbohydrate sulfotransferase 14 gene DOID:11836 clubfoot ISO RGD:1348543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20004762 12335417 CHST14 carbohydrate sulfotransferase 14 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1348543 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25188385|PMID:25741868|PMID:28492532|PMID:32214361 12335417 CHST14 carbohydrate sulfotransferase 14 gene DOID:2717 Bloom syndrome ISO RGD:1348543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12335417 CHST14 carbohydrate sulfotransferase 14 gene DOID:630 genetic disease ISO RGD:1348543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12335417 CHST14 carbohydrate sulfotransferase 14 gene DOID:9001553 Spinal Cord Compression exacerbates ISO RGD:1619123 D RGD:9068941 20221118 RGD PMID:26586562|REF_RGD_ID:155663489 12335417 CHST14 carbohydrate sulfotransferase 14 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 12335417 CHST14 carbohydrate sulfotransferase 14 gene DOID:9004014 Adducted Thumbs Syndrome ISO RGD:1348543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20004762 12335417 CHST14 carbohydrate sulfotransferase 14 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1348543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 12335417 CHST14 carbohydrate sulfotransferase 14 gene DOID:9005077 Joint Instability ISO RGD:1348543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20842734 12335417 CHST14 carbohydrate sulfotransferase 14 gene DOID:9005603 Muscle Hypotonia ISO RGD:1348543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20842734 12335417 CHST14 carbohydrate sulfotransferase 14 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1348543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20842734 12335417 CHST14 carbohydrate sulfotransferase 14 gene DOID:9256 colorectal cancer ISO RGD:1348543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12335422 TTF1 transcription termination factor 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1352742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12335422 TTF1 transcription termination factor 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1352742 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12335422 TTF1 transcription termination factor 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1352742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12335422 TTF1 transcription termination factor 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1352742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12335422 TTF1 transcription termination factor 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1352742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12335422 TTF1 transcription termination factor 1 gene DOID:3652 Leigh disease ISO RGD:1352742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12335422 TTF1 transcription termination factor 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1352742 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25851810 12335422 TTF1 transcription termination factor 1 gene DOID:630 genetic disease ISO RGD:1352742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335443 RBFOX3 RNA binding fox-1 homolog 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12335443 RBFOX3 RNA binding fox-1 homolog 3 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1603898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:29358611 12335443 RBFOX3 RNA binding fox-1 homolog 3 gene DOID:3454 brain infarction ISO RGD:1560070 D RGD:9068941 20221027 RGD protein:altered expression:brain (rat) PMID:12161747|REF_RGD_ID:155630606 12335443 RBFOX3 RNA binding fox-1 homolog 3 gene DOID:630 genetic disease ISO RGD:1603898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12335443 RBFOX3 RNA binding fox-1 homolog 3 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1603898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 12335457 NICN1 nicolin 1, tubulin polyglutamylase complex subunit gene DOID:0060852 Pierson syndrome ISO RGD:1350970 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 12335457 NICN1 nicolin 1, tubulin polyglutamylase complex subunit gene DOID:630 genetic disease ISO RGD:1350970 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12335457 NICN1 nicolin 1, tubulin polyglutamylase complex subunit gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1350970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12335457 NICN1 nicolin 1, tubulin polyglutamylase complex subunit gene DOID:9003907 Aicardi-Goutieres Syndrome 2 ISO RGD:1350970 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 PMID:25741868|PMID:28492532 12335457 NICN1 nicolin 1, tubulin polyglutamylase complex subunit gene DOID:9268 glycine encephalopathy ISO RGD:1350970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:16199547|PMID:16450403|PMID:17576681|PMID:19299230|PMID:23352163|PMID:25741868|PMID:26179960|PMID:26467025|PMID:27362913|PMID:27620832|PMID:28492532|PMID:30105116|PMID:8005589|PMID:9536098|PMID:9621520 12335467 TCTE1 t-complex-associated-testis-expressed 1 gene DOID:12336 male infertility ISO RGD:1313959 D RGD:9068941 20220825 MouseDO 12335467 TCTE1 t-complex-associated-testis-expressed 1 gene DOID:630 genetic disease ISO RGD:1604203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335496 CARHSP1 calcium regulated heat stable protein 1 gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:733909 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:25738457|PMID:28492532 12335496 CARHSP1 calcium regulated heat stable protein 1 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:733909 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 12335496 CARHSP1 calcium regulated heat stable protein 1 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:733909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 12335496 CARHSP1 calcium regulated heat stable protein 1 gene DOID:5812 MHC class II deficiency ISO RGD:733909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12335496 CARHSP1 calcium regulated heat stable protein 1 gene DOID:630 genetic disease ISO RGD:733909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335496 CARHSP1 calcium regulated heat stable protein 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:708415 D RGD:9068941 20200925 RGD PMID:19997081|REF_RGD_ID:39128203 12335508 PYGM glycogen phosphorylase, muscle associated gene DOID:0080000 muscular disease ISO RGD:737329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18380285 12335508 PYGM glycogen phosphorylase, muscle associated gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:737329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12335508 PYGM glycogen phosphorylase, muscle associated gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:737329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:28492532 12335508 PYGM glycogen phosphorylase, muscle associated gene DOID:1059 intellectual disability ISO RGD:737329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12335508 PYGM glycogen phosphorylase, muscle associated gene DOID:13580 cholestasis ISO RGD:3461 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:11804660|REF_RGD_ID:1599990 12335508 PYGM glycogen phosphorylase, muscle associated gene DOID:1935 Bardet-Biedl syndrome ISO RGD:737329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12335508 PYGM glycogen phosphorylase, muscle associated gene DOID:2746 glycogen storage disease V ISO RGD:737329 D RGD:7240710 20180130 OMIM 12335508 PYGM glycogen phosphorylase, muscle associated gene DOID:2746 glycogen storage disease V ISO RGD:737329 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V | ClinVar Annotator: match by term: McArdle disease, mild | ClinVar Annotator: match by term: Myophosphorylase deficiency PMID:10417800|PMID:10450796|PMID:10590419|PMID:1067063|PMID:10679948|PMID:10681080|PMID:10714589|PMID:11168025|PMID:11706962|PMID:11749054|PMID:12031624|PMID:12118255|PMID:12398832|PMID:12508303|PMID:12929201|PMID:14568816|PMID:14638972|PMID:14722619|PMID:14748827|PMID:15979037|PMID:16154688|PMID:16199547|PMID:16786513|PMID:16793208|PMID:16924035|PMID:17172620|PMID:17221871|PMID:17324573|PMID:17404776|PMID:17560787|PMID:17576681|PMID:17630210|PMID:17705025|PMID:17876739|PMID:17915571|PMID:17994553|PMID:18067156|PMID:18162322|PMID:18641458|PMID:19232494|PMID:19251976|PMID:19433441|PMID:19472443|PMID:19670320|PMID:20301518|PMID:20683610|PMID:20957198|PMID:21520335|PMID:21658951|PMID:21802952|PMID:21880526|PMID:22250184|PMID:22608882|PMID:22730558|PMID:22818872|PMID:22832773|PMID:22899091|PMID:23653251|PMID:2391551|PMID:24033266|PMID:24503134|PMID:25044680|PMID:25045239|PMID:25240406|PMID:25525159|PMID:25640679|PMID:25740218|PMID:25741863|PMID:25741868|PMID:25873271|PMID:25914343|PMID:25987006|PMID:26032558|PMID:26115788|PMID:26436962|PMID:26633542|PMID:26913921|PMID:26944031|PMID:27032803|PMID:2703328|PMID:28492532|PMID:28967462|PMID:29143597|PMID:29382405|PMID:30316539|PMID:30415384|PMID:31319225|PMID:31589614|PMID:32075227|PMID:32386344|PMID:32735634|PMID:34008892|PMID:34215481|PMID:34373715|PMID:34426522|PMID:34534370|PMID:3476861|PMID:34906502|PMID:7951211|PMID:7951262|PMID:8279469|PMID:8316268|PMID:8401511|PMID:8535454|PMID:9120482|PMID:9131647|PMID:9152836|PMID:9506549|PMID:9536098|PMID:9633816|PMID:9674815 12335508 PYGM glycogen phosphorylase, muscle associated gene DOID:3070 high grade glioma ISO RGD:737329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12335508 PYGM glycogen phosphorylase, muscle associated gene DOID:423 myopathy ISO RGD:737329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:28492532 12335508 PYGM glycogen phosphorylase, muscle associated gene DOID:630 genetic disease ISO RGD:737329 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10450796|PMID:1067063|PMID:11168025|PMID:11706962|PMID:12929201|PMID:14748827|PMID:16199547|PMID:16786513|PMID:17172620|PMID:17221871|PMID:17324573|PMID:17404776|PMID:17915571|PMID:17994553|PMID:20301518|PMID:21802952|PMID:22250184|PMID:22730558|PMID:23653251|PMID:2391551|PMID:24033266|PMID:25240406|PMID:25740218|PMID:25741868|PMID:25873271|PMID:25914343|PMID:2703328|PMID:28492532|PMID:29143597|PMID:30415384|PMID:32386344|PMID:3476861|PMID:8279469|PMID:8316268|PMID:8401511|PMID:9131647|PMID:9152836|PMID:9506549|PMID:9674815 12335508 PYGM glycogen phosphorylase, muscle associated gene DOID:767 muscular atrophy ISO RGD:737329 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Muscular atrophy PMID:1067063|PMID:11168025|PMID:11706962|PMID:12929201|PMID:14748827|PMID:16786513|PMID:17172620|PMID:17221871|PMID:17324573|PMID:17404776|PMID:17915571|PMID:17994553|PMID:20301518|PMID:21802952|PMID:22250184|PMID:22730558|PMID:23653251|PMID:2391551|PMID:24033266|PMID:25240406|PMID:25740218|PMID:25741868|PMID:25873271|PMID:25914343|PMID:28492532|PMID:29143597|PMID:32386344|PMID:3476861|PMID:8316268|PMID:8401511|PMID:9131647|PMID:9506549|PMID:9674815 12335508 PYGM glycogen phosphorylase, muscle associated gene DOID:9002189 High Myopia ISO RGD:737329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:25741868|PMID:28492532 12335508 PYGM glycogen phosphorylase, muscle associated gene DOID:9003936 Cardiomegaly ISO RGD:3461 D RGD:9068941 20200609 RGD mRNA:increased expression:cardiocyte PMID:14618266|REF_RGD_ID:1599987 12335508 PYGM glycogen phosphorylase, muscle associated gene DOID:9005246 Paralysis ISO RGD:3461 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:skeletal muscle PMID:8769807|REF_RGD_ID:1599993 12335508 PYGM glycogen phosphorylase, muscle associated gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3461 D RGD:9068941 20200609 RGD protein:increased expression:sarcoplasmic reticulum PMID:11692172|REF_RGD_ID:1599897 12335508 PYGM glycogen phosphorylase, muscle associated gene DOID:9007102 Myocardial Ischemia ISO RGD:3461 D RGD:9068941 20200609 RGD PMID:10498852|REF_RGD_ID:1599991 12335532 MTM1 myotubularin 1 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:1312103 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 12335532 MTM1 myotubularin 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1312103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12335532 MTM1 myotubularin 1 gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:1312103 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:25741868|PMID:28492532 12335532 MTM1 myotubularin 1 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:1312103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:10063835|PMID:10215413|PMID:10449925|PMID:10502779|PMID:10714588|PMID:10726846|PMID:10790201|PMID:10900271|PMID:11456308|PMID:11552027|PMID:11793470|PMID:12031625|PMID:12118066|PMID:12467733|PMID:12522554|PMID:12646134|PMID:12707446|PMID:12859411|PMID:15725586|PMID:15811014|PMID:15883335|PMID:16199547|PMID:17005396|PMID:17537630|PMID:17576681|PMID:17973976|PMID:18358876|PMID:18414213|PMID:18817572|PMID:19084976|PMID:20301605|PMID:20358311|PMID:20434914|PMID:21135508|PMID:22068590|PMID:22520358|PMID:22968136|PMID:23071445|PMID:2352255|PMID:23818870|PMID:23917616|PMID:24033266|PMID:24381816|PMID:25640679|PMID:25741868|PMID:25957634|PMID:26338224|PMID:26467025|PMID:26898940|PMID:26938784|PMID:27017278|PMID:27363342|PMID:28007904|PMID:28492532|PMID:28685322|PMID:29567349|PMID:30047259|PMID:30232666|PMID:30241883|PMID:30884204|PMID:30902907|PMID:31541013|PMID:32805447|PMID:33164942|PMID:34011573|PMID:34782754|PMID:7611280|PMID:8640223|PMID:9199578|PMID:9285787|PMID:9305655|PMID:9450905|PMID:9536098|PMID:9829274|PMID:9851444|PMID:9858861 12335532 MTM1 myotubularin 1 gene DOID:12849 autistic disorder ISO RGD:1312103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12335532 MTM1 myotubularin 1 gene DOID:14717 centronuclear myopathy ISO RGD:1312103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Centronuclear myopathy PMID:18414213 12335532 MTM1 myotubularin 1 gene DOID:422 congenital structural myopathy IAGP D RGD:12801476 20220629 OMIA Myotubular myopathy 1 PMID:20682747|PMID:18481550|PMID:22987702|PMID:25664165|PMID:26086764|PMID:26823526|PMID:26605308|PMID:28237839|PMID:33076971|PMID:32417001 12335532 MTM1 myotubularin 1 gene DOID:422 congenital structural myopathy ISO RGD:1312103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY 1 PMID:12118066|PMID:17005396|PMID:19084976|PMID:25741868|PMID:25957634|PMID:28492532|PMID:9285787 12335532 MTM1 myotubularin 1 gene DOID:423 myopathy ISO RGD:1312103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:32581362 12335532 MTM1 myotubularin 1 gene DOID:607 paraplegia ISO RGD:1312103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10790201|PMID:11793470|PMID:12646134|PMID:17973976|PMID:18414213|PMID:21135508|PMID:22520358|PMID:23071445|PMID:23917616|PMID:25741868|PMID:26338224|PMID:28492532|PMID:32805447|PMID:9285787|PMID:9305655 12335532 MTM1 myotubularin 1 gene DOID:630 genetic disease ISO RGD:1312103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10502779|PMID:10714588|PMID:10900271|PMID:11793470|PMID:12031625|PMID:12118066|PMID:17537630|PMID:18414213|PMID:2352255|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28685322|PMID:8640223 12335532 MTM1 myotubularin 1 gene DOID:8488 polyhydramnios ISO RGD:1312103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:25741868 12335532 MTM1 myotubularin 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1312103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868 12335557 POP4 POP4 homolog, ribonuclease P/MRP subunit gene DOID:630 genetic disease ISO RGD:1314291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335557 POP4 POP4 homolog, ribonuclease P/MRP subunit gene DOID:9002762 Ovarian Neoplasms ISO RGD:1314291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 12335567 NBL1 NBL1, DAN family BMP antagonist gene DOID:0060369 Parkinson's disease 6 ISO RGD:1603802 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12335567 NBL1 NBL1, DAN family BMP antagonist gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603802 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12335567 NBL1 NBL1, DAN family BMP antagonist gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1603802 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12335567 NBL1 NBL1, DAN family BMP antagonist gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1603802 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12335567 NBL1 NBL1, DAN family BMP antagonist gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1603802 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12335577 OR4A47 olfactory receptor family 4 subfamily A member 47 gene DOID:0060041 autism spectrum disorder ISO RGD:1351568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25255310 12335577 OR4A47 olfactory receptor family 4 subfamily A member 47 gene DOID:1059 intellectual disability ISO RGD:1351568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12335577 OR4A47 olfactory receptor family 4 subfamily A member 47 gene DOID:630 genetic disease ISO RGD:1351568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335587 BICDL1 BICD family like cargo adaptor 1 gene DOID:630 genetic disease ISO RGD:1603186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335603 TCHHL1 trichohyalin like 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1605587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12335603 TCHHL1 trichohyalin like 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12335603 TCHHL1 trichohyalin like 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605587 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12335603 TCHHL1 trichohyalin like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1605587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12335603 TCHHL1 trichohyalin like 1 gene DOID:5812 MHC class II deficiency ISO RGD:1605587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12335603 TCHHL1 trichohyalin like 1 gene DOID:630 genetic disease ISO RGD:1605587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335603 TCHHL1 trichohyalin like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12335612 ADAD1 adenosine deaminase domain containing 1 gene DOID:630 genetic disease ISO RGD:1606972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335612 ADAD1 adenosine deaminase domain containing 1 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1606972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 12335612 ADAD1 adenosine deaminase domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12335672 MIR199-1 microRNA mir-199-1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1346476 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12335672 MIR199-1 microRNA mir-199-1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1346476 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12335672 MIR199-1 microRNA mir-199-1 gene DOID:0111254 glutaric acidemia I ISO RGD:1346476 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12335672 MIR199-1 microRNA mir-199-1 gene DOID:13810 familial hypercholesterolemia ISO RGD:1346476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:28492532 12335672 MIR199-1 microRNA mir-199-1 gene DOID:3413 alpha-mannosidosis ISO RGD:1346476 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12335672 MIR199-1 microRNA mir-199-1 gene DOID:9206 Barrett's esophagus ISO RGD:1346476 D RGD:9068941 20220825 RGD miRNA:increased expression:esophagus (human) PMID:29906417|REF_RGD_ID:153344526 12335685 LYRM4 LYR motif containing 4 gene DOID:0110822 hereditary spastic paraplegia 77 ISO RGD:1345825 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive PMID:25741868 12335685 LYRM4 LYR motif containing 4 gene DOID:0111476 combined oxidative phosphorylation deficiency 19 ISO RGD:1345825 D RGD:7240710 20180130 OMIM 12335685 LYRM4 LYR motif containing 4 gene DOID:0111476 combined oxidative phosphorylation deficiency 19 ISO RGD:1345825 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 19 PMID:23814038|PMID:25741868|PMID:28492532 12335685 LYRM4 LYR motif containing 4 gene DOID:0111477 combined oxidative phosphorylation deficiency 14 ISO RGD:1345825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 PMID:22833457|PMID:24161539|PMID:25741868|PMID:28492532|PMID:32007496 12335685 LYRM4 LYR motif containing 4 gene DOID:630 genetic disease ISO RGD:1345825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335691 LOC102153485 testis-expressed protein 13B gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1347068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 12335691 LOC102153485 testis-expressed protein 13B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12335691 LOC102153485 testis-expressed protein 13B gene DOID:12849 autistic disorder ISO RGD:1347068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12335691 LOC102153485 testis-expressed protein 13B gene DOID:630 genetic disease ISO RGD:1347068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335706 PATE2 prostate and testis expressed 2 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1602157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12335706 PATE2 prostate and testis expressed 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1602157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12335706 PATE2 prostate and testis expressed 2 gene DOID:5419 schizophrenia ISO RGD:1602157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12335706 PATE2 prostate and testis expressed 2 gene DOID:630 genetic disease ISO RGD:1602157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335706 PATE2 prostate and testis expressed 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1602157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12335706 PATE2 prostate and testis expressed 2 gene DOID:9007661 Dwarfism ISO RGD:1602157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12335716 RNF7 ring finger protein 7 gene DOID:630 genetic disease ISO RGD:1322298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335731 DDX46 DEAD-box helicase 46 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:734266 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12335731 DDX46 DEAD-box helicase 46 gene DOID:12849 autistic disorder ISO RGD:734266 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 12335731 DDX46 DEAD-box helicase 46 gene DOID:630 genetic disease ISO RGD:734266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335731 DDX46 DEAD-box helicase 46 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12335731 DDX46 DEAD-box helicase 46 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734266 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12335763 ALDOB aldolase, fructose-bisphosphate B gene DOID:1059 intellectual disability ISO RGD:737371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12335763 ALDOB aldolase, fructose-bisphosphate B gene DOID:2048 autoimmune hepatitis ISO RGD:737371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16115720 12335763 ALDOB aldolase, fructose-bisphosphate B gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:737371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency | ClinVar Annotator: match by term: Fructose-biphosphatase deficiency PMID:10024431|PMID:10229688|PMID:10352930|PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:12464284|PMID:15532022|PMID:15733923|PMID:15880727|PMID:16199547|PMID:16406649|PMID:16630753|PMID:17576681|PMID:1772121|PMID:18541450|PMID:1856829|PMID:1928090|PMID:1967768|PMID:19768653|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:2203259|PMID:22375183|PMID:22494545|PMID:22995991|PMID:23114028|PMID:2336380|PMID:23430936|PMID:2349937|PMID:24033266|PMID:25525159|PMID:25595217|PMID:25741868|PMID:25910213|PMID:2623136|PMID:26283345|PMID:26633542|PMID:26677512|PMID:26937407|PMID:27797444|PMID:28492532|PMID:29095814|PMID:29754767|PMID:30675358|PMID:31591370|PMID:32860008|PMID:3383242|PMID:34162028|PMID:34524712|PMID:6348085|PMID:7717389|PMID:8071980|PMID:8096362|PMID:8162030|PMID:8299883|PMID:8299892|PMID:8438046|PMID:8535439|PMID:8541450|PMID:8880583|PMID:9536098|PMID:9610797 12335763 ALDOB aldolase, fructose-bisphosphate B gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:737371 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency | ClinVar Annotator: match by term: Fructose-biphosphatase deficiency PMID:10024431|PMID:10229688|PMID:10352930|PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:12464284|PMID:15532022|PMID:15733923|PMID:15880727|PMID:16199547|PMID:16406649|PMID:16630753|PMID:17576681|PMID:1772121|PMID:18541450|PMID:1856829|PMID:1928090|PMID:1967768|PMID:19768653|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:2203259|PMID:22375183|PMID:22494545|PMID:22995991|PMID:23114028|PMID:2336380|PMID:23430936|PMID:2349937|PMID:24033266|PMID:25525159|PMID:25595217|PMID:25741868|PMID:25910213|PMID:2623136|PMID:26283345|PMID:26633542|PMID:26677512|PMID:26937407|PMID:27797444|PMID:28492532|PMID:29754767|PMID:30675358|PMID:31591370|PMID:32860008|PMID:3383242|PMID:34162028|PMID:34524712|PMID:6348085|PMID:7717389|PMID:8071980|PMID:8096362|PMID:8162030|PMID:8299883|PMID:8299892|PMID:8438046|PMID:8535439|PMID:8541450|PMID:8880583|PMID:9536098|PMID:9610797 12335763 ALDOB aldolase, fructose-bisphosphate B gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:737371 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency | ClinVar Annotator: match by term: Fructose-biphosphatase deficiency PMID:10024431|PMID:10229688|PMID:10352930|PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:12464284|PMID:15532022|PMID:15733923|PMID:15880727|PMID:16199547|PMID:16406649|PMID:16630753|PMID:17576681|PMID:1772121|PMID:18541450|PMID:1856829|PMID:1928090|PMID:1967768|PMID:19768653|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:2203259|PMID:22375183|PMID:22494545|PMID:22995991|PMID:23114028|PMID:2336380|PMID:23430936|PMID:2349937|PMID:24033266|PMID:25525159|PMID:25595217|PMID:25741868|PMID:25910213|PMID:2623136|PMID:26283345|PMID:26633542|PMID:26677512|PMID:26937407|PMID:27797444|PMID:28492532|PMID:29754767|PMID:30675358|PMID:30833214|PMID:31591370|PMID:32860008|PMID:3383242|PMID:34162028|PMID:34524712|PMID:6348085|PMID:7717389|PMID:8071980|PMID:8096362|PMID:8162030|PMID:8299883|PMID:8299892|PMID:8438046|PMID:8535439|PMID:8541450|PMID:8880583|PMID:9536098|PMID:9610797 12335763 ALDOB aldolase, fructose-bisphosphate B gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:737371 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency | ClinVar Annotator: match by term: Fructose-biphosphatase deficiency PMID:10024431|PMID:10229688|PMID:10352930|PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:12464284|PMID:15532022|PMID:15733923|PMID:15880727|PMID:16199547|PMID:16406649|PMID:16630753|PMID:17576681|PMID:1772121|PMID:18188031|PMID:18541450|PMID:1856829|PMID:1928090|PMID:1967768|PMID:19768653|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:2203259|PMID:22375183|PMID:22494545|PMID:22995991|PMID:23114028|PMID:2336380|PMID:23430936|PMID:2349937|PMID:24033266|PMID:25525159|PMID:25595217|PMID:25741868|PMID:25910213|PMID:2623136|PMID:26283345|PMID:26633542|PMID:26677512|PMID:26937407|PMID:27797444|PMID:28492532|PMID:29095814|PMID:29754767|PMID:30675358|PMID:30833214|PMID:31591370|PMID:32860008|PMID:33028743|PMID:3383242|PMID:34162028|PMID:3430936|PMID:34524712|PMID:6348085|PMID:7717389|PMID:8071980|PMID:8096362|PMID:8162030|PMID:8299883|PMID:8299892|PMID:8438046|PMID:8535439|PMID:8541450|PMID:8880583|PMID:9536098|PMID:9610797 12335763 ALDOB aldolase, fructose-bisphosphate B gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:737371 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:10024431|PMID:10229688|PMID:10352930|PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:12464284|PMID:15532022|PMID:15733923|PMID:15880727|PMID:16199547|PMID:16406649|PMID:16630753|PMID:17576681|PMID:1772121|PMID:18188031|PMID:18541450|PMID:1856829|PMID:1967768|PMID:19768653|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:2203259|PMID:22375183|PMID:22494545|PMID:22995991|PMID:23114028|PMID:2336380|PMID:23430936|PMID:2349937|PMID:24033266|PMID:25525159|PMID:25595217|PMID:25741868|PMID:25910213|PMID:2623136|PMID:26283345|PMID:26633542|PMID:26677512|PMID:26937407|PMID:27797444|PMID:28492532|PMID:29095814|PMID:29754767|PMID:30675358|PMID:30833214|PMID:31591370|PMID:32860008|PMID:33028743|PMID:3383242|PMID:34162028|PMID:3430936|PMID:34524712|PMID:6348085|PMID:7717389|PMID:8071980|PMID:8096362|PMID:8162030|PMID:8299883|PMID:8299892|PMID:8438046|PMID:8535439|PMID:8541450|PMID:8880583|PMID:9536098|PMID:9610797 12335763 ALDOB aldolase, fructose-bisphosphate B gene DOID:630 genetic disease ISO RGD:737371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:15880727|PMID:18188031|PMID:18541450|PMID:1967768|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:22995991|PMID:23430936|PMID:25741868|PMID:26937407|PMID:28492532|PMID:32860008|PMID:33028743|PMID:8071980|PMID:8299883|PMID:8299892|PMID:8880583 12335763 ALDOB aldolase, fructose-bisphosphate B gene DOID:8283 peritonitis ISO RGD:2090 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:8403244|REF_RGD_ID:2313429 12335763 ALDOB aldolase, fructose-bisphosphate B gene DOID:9000217 Stomach Neoplasms ISO RGD:737371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 12335763 ALDOB aldolase, fructose-bisphosphate B gene DOID:9002669 Hypoxia ISO RGD:737371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 12335763 ALDOB aldolase, fructose-bisphosphate B gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:737371 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:25741868 12335763 ALDOB aldolase, fructose-bisphosphate B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2090 D RGD:9068941 20200609 RGD mRNA:reduced expression:liver, small intestine (rat) PMID:2984252|REF_RGD_ID:2313437 12335763 ALDOB aldolase, fructose-bisphosphate B gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16115720 12335763 ALDOB aldolase, fructose-bisphosphate B gene DOID:916 liver benign neoplasm ISO RGD:2090 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:8264573|REF_RGD_ID:2313432 12335763 ALDOB aldolase, fructose-bisphosphate B gene DOID:9351 diabetes mellitus ISO RGD:10140 D RGD:9068941 20200609 RGD mRNA:reduced expression:pancreatic islet (mouse) PMID:11904435|REF_RGD_ID:2313440 12335763 ALDOB aldolase, fructose-bisphosphate B gene DOID:9352 type 2 diabetes mellitus ISO RGD:737371 D RGD:9068941 20200609 RGD DNA:SNP:intron: (human) PMID:12646233|REF_RGD_ID:2313434 12335763 ALDOB aldolase, fructose-bisphosphate B gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:737371 D RGD:7240710 20180130 OMIM 12335763 ALDOB aldolase, fructose-bisphosphate B gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:737371 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fructose intolerance | ClinVar Annotator: match by term: Fructose-1,6-bisphosphate aldolase B deficiency | ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency | ClinVar Annotator: match by term: Hereditary fructose intolerance PMID:10024431|PMID:10229688|PMID:10352930|PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:12464284|PMID:15532022|PMID:15733923|PMID:15880727|PMID:16199547|PMID:16406649|PMID:16630753|PMID:17576681|PMID:1772121|PMID:18188031|PMID:18541450|PMID:1856829|PMID:1967768|PMID:19768653|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:2203259|PMID:22375183|PMID:22494545|PMID:22995991|PMID:23114028|PMID:2336380|PMID:23430936|PMID:2349937|PMID:24033266|PMID:25525159|PMID:25595217|PMID:25741868|PMID:25910213|PMID:2623136|PMID:26283345|PMID:26633542|PMID:26677512|PMID:26937407|PMID:27797444|PMID:28492532|PMID:29095814|PMID:29754767|PMID:30675358|PMID:30833214|PMID:31591370|PMID:32860008|PMID:33028743|PMID:3383242|PMID:34162028|PMID:3430936|PMID:34524712|PMID:6348085|PMID:7717389|PMID:8071980|PMID:8096362|PMID:8162030|PMID:8299883|PMID:8299892|PMID:8438046|PMID:8535439|PMID:8541450|PMID:8880583|PMID:9536098|PMID:9610797 12335763 ALDOB aldolase, fructose-bisphosphate B gene DOID:9869 hereditary fructose intolerance syndrome susceptibility ISO RGD:737371 D RGD:9068941 20200609 RGD PMID:15532022|REF_RGD_ID:1599063 12335763 Aldob aldolase, fructose-bisphosphate B gene DOID:9352 type 2 diabetes mellitus ISO RGD:2090 D RGD:9068941 20200609 RGD mRNA:decreased expression:soleus (rat) PMID:19106228|REF_RGD_ID:2313414 12335776 CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1342685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12335776 CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:1342685 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Tourette syndrome PMID:25590979|PMID:25741868|PMID:30257206 12335776 CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1342685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12335776 CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 gene DOID:630 genetic disease ISO RGD:1342685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335776 CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1342685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12335776 CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1342685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12335776 CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1342685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12335845 SPICE1 spindle and centriole associated protein 1 gene DOID:0070166 spermatogenic failure 20 ISO RGD:1606953 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 20 PMID:25741868|PMID:28552195|PMID:29277146|PMID:29449551 12335845 SPICE1 spindle and centriole associated protein 1 gene DOID:630 genetic disease ISO RGD:1606953 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12335878 SENP2 SUMO specific peptidase 2 gene DOID:0111546 Currarino syndrome ISO RGD:1351152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12335878 SENP2 SUMO specific peptidase 2 gene DOID:630 genetic disease ISO RGD:1351152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335878 SENP2 SUMO specific peptidase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351152 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29535048 12335878 SENP2 SUMO specific peptidase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351152 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29535048 12335903 PIK3C2B phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1315215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12335903 PIK3C2B phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta gene DOID:12849 autistic disorder ISO RGD:1315215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12335903 PIK3C2B phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta gene DOID:1540 parathyroid carcinoma ISO RGD:1315215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12335903 PIK3C2B phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta gene DOID:630 genetic disease ISO RGD:1315215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12335903 PIK3C2B phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21986133 12335903 PIK3C2B phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1315215 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12335903 PIK3C2B phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1354327 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1 PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:0050771 pheochromocytoma ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:12807974|PMID:17468193|PMID:19454582|PMID:22517554|PMID:22703879|PMID:23342407|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:0050773 paraganglioma ISO RGD:1354327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:12658451|PMID:12807974|PMID:15989954|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17898811|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25637381|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27700540|PMID:28412079|PMID:28492532|PMID:28819017|PMID:29386252|PMID:29878124|PMID:30050099|PMID:30548481|PMID:31194233|PMID:31308404|PMID:32688340|PMID:33332384|PMID:33748650|PMID:34558728|PMID:9536098 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1354327 D RGD:7240710 20180130 OMIM 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1354327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor PMID:12658451|PMID:12807974|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17898811|PMID:19454582|PMID:21173220|PMID:23083876|PMID:23282968|PMID:23342407|PMID:24033266|PMID:24402737|PMID:24423348|PMID:24523625|PMID:24758179|PMID:25024072|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27700540|PMID:28492532|PMID:28819017|PMID:30548481|PMID:9536098 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:0110152 Charcot-Marie-Tooth disease type 1B ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1B PMID:26378787 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:0110195 Charcot-Marie-Tooth disease type 4E ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelination, severe congenital PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:1540 parathyroid carcinoma ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:1612 breast cancer ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:23175444|PMID:24033266|PMID:24466223|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28492532 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:2394 ovarian cancer ISO RGD:1354327 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:23175444|PMID:24033266|PMID:24466223|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28492532 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:3247 rhabdomyosarcoma ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:23083876|PMID:24423348|PMID:24758179|PMID:25741868|PMID:27700540|PMID:28492532|PMID:33372952 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:3652 Leigh disease ISO RGD:1553681 D RGD:9068941 20220825 MouseDO OMIM:256000 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1354327 D RGD:9068941 20210820 RGD DNA:SNP: 3'utr (rs12064957) (human) PMID:25576295|REF_RGD_ID:150340558 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:9003626 Paragangliomas 3 ISO RGD:1354327 D RGD:7240710 20180130 OMIM 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:9003626 Paragangliomas 3 ISO RGD:1354327 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: Paragangliomas 3 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16249420|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:19351833|PMID:19454582|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25637381|PMID:25741868|PMID:25950479|PMID:26173966|PMID:26273102|PMID:26467025|PMID:26492543|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:28412079|PMID:28492532|PMID:28819017|PMID:29386252|PMID:31308404|PMID:33372952|PMID:34558728|PMID:9536098 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:9003626 Paragangliomas 3 ISO RGD:1354327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: Paragangliomas 3 PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25637381|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28412079|PMID:28492532|PMID:28819017|PMID:29386252|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31308404|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33372952|PMID:33748650|PMID:34558728|PMID:9536098 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:1354327 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:12807974|PMID:17468193|PMID:19454582|PMID:22703879|PMID:23342407|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:1354327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:12658451|PMID:12807974|PMID:15989954|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17898811|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25637381|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27700540|PMID:28412079|PMID:28492532|PMID:28819017|PMID:29386252|PMID:29878124|PMID:30050099|PMID:30548481|PMID:31194233|PMID:31308404|PMID:32688340|PMID:33332384|PMID:33748650|PMID:34558728|PMID:9536098 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11062460|PMID:12658451|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17298551|PMID:17376234|PMID:17576681|PMID:17667967|PMID:17898811|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:21822798|PMID:21979946|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:26492543|PMID:27153395|PMID:27279923|PMID:27700540|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:31308404|PMID:34558728|PMID:9536098 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354327 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17298551|PMID:17376234|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17898811|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:26492543|PMID:27153395|PMID:27279923|PMID:27700540|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:31308404|PMID:34558728|PMID:9536098 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354327 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26173966|PMID:26198225|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33397043|PMID:33748650|PMID:34558728|PMID:9536098 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354327 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26173966|PMID:26198225|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31666924|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33397043|PMID:33748650|PMID:34558728|PMID:34663632|PMID:9536098 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:9007167 Carney Triad ISO RGD:1354327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA PMID:12658451|PMID:17576681|PMID:17667967|PMID:17804857|PMID:19351833|PMID:21173220|PMID:21822798|PMID:24402737|PMID:26173966|PMID:28492532|PMID:9536098 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354327 D RGD:7240710 20180130 OMIM 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354327 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor of small intestine | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17376234|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26162468|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27485256|PMID:27700540|PMID:27867439|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33748650|PMID:34558728|PMID:9536098 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25787132|PMID:25950479|PMID:25950813|PMID:26162468|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27485256|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31666924|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33748650|PMID:34558728|PMID:9536098 12335938 SDHC succinate dehydrogenase complex subunit C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26162468|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27485256|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31666924|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33748650|PMID:34558728|PMID:9536098 12335948 THG1L tRNA-histidine guanylyltransferase 1 like gene DOID:557 kidney disease ISO RGD:1603030 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21784897 12335948 THG1L tRNA-histidine guanylyltransferase 1 like gene DOID:630 genetic disease ISO RGD:1603030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28097321 12335948 THG1L tRNA-histidine guanylyltransferase 1 like gene DOID:9000784 Fibrosis ISO RGD:1603030 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21784897 12335948 THG1L tRNA-histidine guanylyltransferase 1 like gene DOID:9000809 Autosomal Recessive Spinocerebellar Ataxia 28 ISO RGD:1603030 D RGD:7240710 20200401 OMIM 12335948 THG1L tRNA-histidine guanylyltransferase 1 like gene DOID:9000809 Autosomal Recessive Spinocerebellar Ataxia 28 ISO RGD:1603030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 28 PMID:1168944|PMID:25741868|PMID:27307223|PMID:28097321 12335948 THG1L tRNA-histidine guanylyltransferase 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12335964 MBD1 methyl-CpG binding domain protein 1 gene DOID:1059 intellectual disability ISO RGD:1314332 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12335964 MBD1 methyl-CpG binding domain protein 1 gene DOID:11832 visual epilepsy ISO RGD:1305980 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus PMID:12123686|REF_RGD_ID:9587847 12335964 MBD1 methyl-CpG binding domain protein 1 gene DOID:12849 autistic disorder ISO RGD:1314333 D RGD:9068941 20200609 RGD PMID:18385101|REF_RGD_ID:9588655 12335964 MBD1 methyl-CpG binding domain protein 1 gene DOID:1324 lung cancer susceptibility ISO RGD:1314332 D RGD:9068941 20200609 RGD DNA:snp::c.1221+135T>A (rs140689) (human) PMID:18668384|REF_RGD_ID:9588657 12335964 MBD1 methyl-CpG binding domain protein 1 gene DOID:1324 lung cancer susceptibility ISO RGD:1314332 D RGD:9068941 20200609 RGD DNA:snps, deletion:promoter, cds:g.-634G>A, g.-501delT, p.P401A (human) PMID:16284366|REF_RGD_ID:9588651 12335964 MBD1 methyl-CpG binding domain protein 1 gene DOID:224 transient cerebral ischemia ISO RGD:1305980 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:12421618|REF_RGD_ID:9587846 12335964 MBD1 methyl-CpG binding domain protein 1 gene DOID:630 genetic disease ISO RGD:1314332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12335964 MBD1 methyl-CpG binding domain protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12336012 RNF8 ring finger protein 8 gene DOID:12849 autistic disorder ISO RGD:1317571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18621663 12336012 RNF8 ring finger protein 8 gene DOID:630 genetic disease ISO RGD:1317571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336024 CEP135 centrosomal protein 135 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1350849 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 12336024 CEP135 centrosomal protein 135 gene DOID:0070282 primary autosomal recessive microcephaly 8 ISO RGD:1350849 D RGD:7240710 20180130 OMIM 12336024 CEP135 centrosomal protein 135 gene DOID:0070282 primary autosomal recessive microcephaly 8 ISO RGD:1350849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly 8, primary, autosomal recessive PMID:22521416|PMID:25741868|PMID:26657937|PMID:28492532|PMID:30214071|PMID:31696992 12336024 CEP135 centrosomal protein 135 gene DOID:630 genetic disease ISO RGD:1350849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:22521416|PMID:25741868|PMID:26657937|PMID:28492532|PMID:31696992|PMID:9536098 12336054 KDM7A lysine demethylase 7A gene DOID:0080690 RASopathy ISO RGD:1606499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12336054 KDM7A lysine demethylase 7A gene DOID:1909 melanoma ISO RGD:1606499 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:22143793|REF_RGD_ID:9587848 12336054 KDM7A lysine demethylase 7A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12336054 KDM7A lysine demethylase 7A gene DOID:630 genetic disease ISO RGD:1606499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336081 CDH7 cadherin 7 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1315712 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12336081 CDH7 cadherin 7 gene DOID:630 genetic disease ISO RGD:1315712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336081 CDH7 cadherin 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12336081 CDH7 cadherin 7 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16015041 12336097 PDCD2L programmed cell death 2 like gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1601844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12336097 PDCD2L programmed cell death 2 like gene DOID:630 genetic disease ISO RGD:1601844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336111 ZNF395 zinc finger protein 395 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1317282 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12336111 ZNF395 zinc finger protein 395 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1317282 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12336111 ZNF395 zinc finger protein 395 gene DOID:630 genetic disease ISO RGD:1317282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336128 MRS2 magnesium transporter MRS2 gene DOID:0060175 succinic semialdehyde dehydrogenase deficiency ISO RGD:732788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency PMID:28492532 12336128 MRS2 magnesium transporter MRS2 gene DOID:3213 demyelinating disease ISO RGD:708529 D RGD:9068941 20200609 RGD DNA:missense mutation:intron(rat) PMID:21253565|REF_RGD_ID:12793070 12336128 MRS2 magnesium transporter MRS2 gene DOID:630 genetic disease ISO RGD:732788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336143 LOC608881 protocadherin-11 X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12336143 LOC608881 protocadherin-11 X-linked gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1353305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:25741868 12336143 LOC608881 protocadherin-11 X-linked gene DOID:10652 Alzheimer's disease ISO RGD:1353305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:29476165 12336143 LOC608881 protocadherin-11 X-linked gene DOID:12849 autistic disorder ISO RGD:1353305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12336143 LOC608881 protocadherin-11 X-linked gene DOID:630 genetic disease ISO RGD:1353305 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:0050685 small cell carcinoma susceptibility ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:SNP:exon:609C>T (human) PMID:11679176|REF_RGD_ID:5135003 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:0050855 renal fibrosis treatment ISO RGD:10473 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:23056222|REF_RGD_ID:11035221 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:0050908 myelodysplastic syndrome no_association ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:609C>T (p.P187S) (human) PMID:23643325|REF_RGD_ID:10769356 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:735868 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:0070004 myeloid neoplasm ISO RGD:10473 D RGD:9068941 20200609 RGD PMID:18829548|REF_RGD_ID:10769354 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:735868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:0070355 overactive bladder syndrome treatment ISO RGD:2503 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries PMID:28954467|REF_RGD_ID:13434913 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28932253|REF_RGD_ID:13434914 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:0080666 warfarin sensitivity ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27581200 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:10763 hypertension treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:21502369|REF_RGD_ID:11035215 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:10976 membranous glomerulonephritis treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28711658|REF_RGD_ID:13439719 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:11054 urinary bladder cancer ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8631603 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:11054 urinary bladder cancer treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:21213404|REF_RGD_ID:10401939 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:11832 visual epilepsy ISO RGD:2503 D RGD:9068941 20200609 RGD protein:increased activity:brain PMID:14991562|REF_RGD_ID:5133254 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:1240 leukemia ISO RGD:735868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukemia, post-chemotherapy, susceptibility to PMID:10393869|PMID:10393963|PMID:1737339|PMID:18511948|PMID:21964527|PMID:6933553|PMID:9000600|PMID:9230185|PMID:9328142|PMID:9593466|PMID:9855009 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:1240 leukemia no_association ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:SNP: :609C>T (human) PMID:15382274|REF_RGD_ID:10769351 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:12554 hemolytic-uremic syndrome ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12588957 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:1289 neurodegenerative disease treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28620296|REF_RGD_ID:13439721 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:13580 cholestasis ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461449 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:13580 cholestasis treatment ISO RGD:10473 D RGD:9068941 20200609 RGD PMID:28337145|REF_RGD_ID:13439750 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:13580 cholestasis treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28337145|REF_RGD_ID:13439750 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:14330 Parkinson's disease ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17188257 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:14566 disease of cellular proliferation ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8375015 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:14654 prostatitis treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28844677|REF_RGD_ID:13434918 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:1596 depressive disorder treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28763303|REF_RGD_ID:13439713 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:1612 breast cancer ISO RGD:735868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, post-chemotherapy poor survival in PMID:10393869|PMID:10393963|PMID:1737339|PMID:18511948|PMID:21964527|PMID:6933553|PMID:9000600|PMID:9230185|PMID:9328142|PMID:9593466|PMID:9855009 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:1824 status epilepticus treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28386312|REF_RGD_ID:13439740 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:219 colon cancer ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:19424637|REF_RGD_ID:5133247 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:224 transient cerebral ischemia ISO RGD:2503 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:28552673|REF_RGD_ID:13439727 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:224 transient cerebral ischemia ISO RGD:2503 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:28169530|REF_RGD_ID:13442499 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:29017857|REF_RGD_ID:13439718 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:2615 papilloma ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9496914 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:2773 contact dermatitis ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:2841 asthma ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20049212 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:2841 asthma ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:SNP:exon:c. 609C>T (human) PMID:19027876|REF_RGD_ID:5135006 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:2841 asthma susceptibility ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:SNP:exon:c.609C>T (human) PMID:19591959|REF_RGD_ID:5135005 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:3021 acute kidney failure ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26723870 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:3021 acute kidney failure treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28230744|REF_RGD_ID:13440091 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735868 D RGD:9068941 20200609 RGD protein, mRNA:decreased expression:lung PMID:18556627|REF_RGD_ID:5134980 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:polymorphisms: :465C>T, 609C>T (human) PMID:19705749|REF_RGD_ID:5133267 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:10473 D RGD:9068941 20200609 RGD PMID:28790194|REF_RGD_ID:13439712 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28790194|REF_RGD_ID:13439712 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:2503 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:21120604|REF_RGD_ID:5133239 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:25069640|REF_RGD_ID:11035212 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:3602 toxic encephalopathy ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20849151 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:3905 lung carcinoma ISO RGD:735868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:10393869|PMID:10393963|PMID:1737339|PMID:18511948|PMID:21964527|PMID:6933553|PMID:9000600|PMID:9230185|PMID:9328142|PMID:9593466|PMID:9855009 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21479364|PMID:9865924 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:polymorphism:cds: 609 C>T (human) PMID:19596483|REF_RGD_ID:5133268 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:21479364|REF_RGD_ID:5133265 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:3996 urinary system cancer ISO RGD:735868 D RGD:9068941 20200609 RGD Urothelial neoplasms; DNA:SNP:CDS:nucleotide 609 C/T or T/T genotype, risk increases with history of smoking and/or if combined with SULT1A1 codon 213, G/G genotype PMID:17619904|REF_RGD_ID:2301044 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:409 liver disease ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16610002|PMID:17405841 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:4195 hyperglycemia ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23458895 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:4448 macular degeneration ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype:cds:c.609C>T (rs1800566) (human) PMID:23276910|REF_RGD_ID:7771558 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:5082 liver cirrhosis treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:29078262|REF_RGD_ID:13442479 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:5199 ureteral obstruction ISO RGD:2503 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:20734248|REF_RGD_ID:5133246 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:557 kidney disease ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21613233 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:735868 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:784 chronic kidney disease treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:22227174|REF_RGD_ID:10769366 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:850 lung disease susceptibility ISO RGD:735868 D RGD:9068941 20200609 RGD acute lung injuries;DNA:SNP: :rs689455 (human) PMID:19017358|REF_RGD_ID:5134962 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:SNP: :609C>T (human) PMID:16235982|REF_RGD_ID:10769357 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:8692 myeloid leukemia ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11882782 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2503 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (rat) PMID:28881715|REF_RGD_ID:13434916 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:24747453|REF_RGD_ID:10412730 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9000046 Poisoning ISO RGD:735868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benzene toxicity, susceptibility to PMID:10393869|PMID:10393963|PMID:1737339|PMID:18511948|PMID:21964527|PMID:6933553|PMID:9000600|PMID:9230185|PMID:9328142|PMID:9593466|PMID:9855009 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9000310 Lung Injury ISO RGD:2503 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:lung (rat) PMID:27888691|REF_RGD_ID:13442477 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:2503 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:21259333|REF_RGD_ID:5133235 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9000998 Brain Injuries ISO RGD:2503 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:18787991|REF_RGD_ID:5134971 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9000998 Brain Injuries treatment ISO RGD:2503 D RGD:9068941 20200609 RGD associated with Subarachnoid Hemorrhage PMID:20864352|REF_RGD_ID:11035222 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2503 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (rat) PMID:27867096|REF_RGD_ID:13442478 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2503 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21457706|REF_RGD_ID:11035226 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21034357|PMID:9496914 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17507624 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9002457 Experimental Arthritis severity ISO RGD:10473 D RGD:9068941 20200609 RGD PMID:16905546|REF_RGD_ID:11073695 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:29050310|REF_RGD_ID:13442476 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9003273 Chromosome 8, Trisomy ISO RGD:735868 D RGD:9068941 20200609 RGD associated with Myeloproliferative Disorders;DNA:missense mutation:cds:609C>T (human) PMID:23643325|REF_RGD_ID:10769356 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9003709 Mercury Poisoning treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28498799|REF_RGD_ID:13439738 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9004237 Hyperoxic Lung Injury ISO RGD:1551869 D RGD:9068941 20200609 RGD PMID:16678022|REF_RGD_ID:10769360 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:24669282|PMID:28065220|REF_RGD_ID:11035223|REF_RGD_ID:13442501 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:2503 D RGD:9068941 20200609 RGD associated with Hypertension PMID:22990325|REF_RGD_ID:11035227 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9004786 Carbon Tetrachloride Poisoning treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:23684718|REF_RGD_ID:11035220 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:SNP: :609C>T (human) PMID:12018106|REF_RGD_ID:10769350 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:polymorphism: : 609C>T (human) PMID:15781212|REF_RGD_ID:5134987 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:polymorphism:cds: PMID:18798003|REF_RGD_ID:5134963 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9005463 Occupational Diseases ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15576619|PMID:15727169|PMID:17178637|PMID:9230185 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23458895 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9005729 Chronic Experimental Pancreatitis treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:22359633|REF_RGD_ID:11035224 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:21545725|REF_RGD_ID:11035217 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:21781312|REF_RGD_ID:6771212 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:10473 D RGD:9068941 20200609 RGD PMID:28472605|PMID:29091898|REF_RGD_ID:13439739|REF_RGD_ID:15090820 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28522909|PMID:29091898|REF_RGD_ID:13439737|REF_RGD_ID:15090820 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9007480 Hyperoxia ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:21551015|REF_RGD_ID:11035211 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28382390|REF_RGD_ID:13440093 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9008217 Hemorrhage ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27581200 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20593958 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9008914 Lead Poisoning treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28178683|REF_RGD_ID:13440092 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18511948 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:SNP: :609C>T (human) PMID:19456854|REF_RGD_ID:10769358 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:916 liver benign neoplasm ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:24418717|REF_RGD_ID:11035219 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9452 fatty liver disease ISO RGD:2503 D RGD:9068941 20200609 RGD protein:increased activity:liver PMID:17721935|REF_RGD_ID:5133249 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9538 multiple myeloma ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16949155 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9538 multiple myeloma ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P187S (human) PMID:18156703|REF_RGD_ID:10769348 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9538 multiple myeloma no_association ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P187S (609C>T) (human) PMID:18061666|REF_RGD_ID:10755419 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9675 pulmonary emphysema ISO RGD:735868 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:18559366|REF_RGD_ID:5134973 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11774269|PMID:17332311 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.R139W (465C>T), p.P187S (609C>T) (human) PMID:11774269|REF_RGD_ID:10769359 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:mutation: :609C>T (human) PMID:18444911|REF_RGD_ID:10769347 12336159 NQO1 NAD(P)H quinone dehydrogenase 1 gene DOID:9970 obesity ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17405841 12336170 TNFSF12 tumor necrosis factor (ligand) superfamily, member 12 gene DOID:0060224 atrial fibrillation ISO RGD:1350160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12336170 TNFSF12 tumor necrosis factor (ligand) superfamily, member 12 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1350160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12336170 TNFSF12 tumor necrosis factor (ligand) superfamily, member 12 gene DOID:0080600 COVID-19 ISO RGD:1350160 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12336170 TNFSF12 tumor necrosis factor (ligand) superfamily, member 12 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1350160 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12336170 TNFSF12 tumor necrosis factor (ligand) superfamily, member 12 gene DOID:12177 common variable immunodeficiency ISO RGD:1350160 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:17576681|PMID:23493554|PMID:25741868|PMID:28492532|PMID:9536098 12336170 TNFSF12 tumor necrosis factor (ligand) superfamily, member 12 gene DOID:2729 dyskeratosis congenita ISO RGD:1350160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12336170 TNFSF12 tumor necrosis factor (ligand) superfamily, member 12 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1350160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12336170 TNFSF12 tumor necrosis factor (ligand) superfamily, member 12 gene DOID:552 pneumonia ISO RGD:1350160 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12336170 TNFSF12 tumor necrosis factor (ligand) superfamily, member 12 gene DOID:630 genetic disease ISO RGD:1350160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12336170 TNFSF12 tumor necrosis factor (ligand) superfamily, member 12 gene DOID:9000998 Brain Injuries ISO RGD:1350160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 12336187 CTXN3 cortexin 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604412 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12336187 CTXN3 cortexin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12336187 CTXN3 cortexin 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604412 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12336208 LOC100687127 thioredoxin-like gene DOID:0050700 cardiomyopathy ISO RGD:732442 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12221060 12336208 LOC100687127 thioredoxin-like gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:732441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:28492532 12336208 LOC100687127 thioredoxin-like gene DOID:10908 hydrocephalus ISO RGD:732441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31310794 12336208 LOC100687127 thioredoxin-like gene DOID:11650 bronchopulmonary dysplasia ISO RGD:732441 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20812253 12336208 LOC100687127 thioredoxin-like gene DOID:12930 dilated cardiomyopathy ISO RGD:732441 D RGD:9068941 20200609 RGD PMID:12870673|REF_RGD_ID:1580782 12336208 LOC100687127 thioredoxin-like gene DOID:1686 glaucoma ISO RGD:621157 D RGD:9068941 20200609 RGD protein:decreased expression:retinal ganglion cell PMID:18701913|REF_RGD_ID:2306193 12336208 LOC100687127 thioredoxin-like gene DOID:1790 malignant mesothelioma ISO RGD:732441 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27032653 12336208 LOC100687127 thioredoxin-like gene DOID:2773 contact dermatitis ISO RGD:732441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12336208 LOC100687127 thioredoxin-like gene DOID:409 liver disease ISO RGD:732441 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16996028 12336208 LOC100687127 thioredoxin-like gene DOID:5844 myocardial infarction ISO RGD:732441 D RGD:9068941 20200609 RGD PMID:14677813|REF_RGD_ID:1580785 12336208 LOC100687127 thioredoxin-like gene DOID:820 myocarditis ISO RGD:732441 D RGD:9068941 20200609 RGD PMID:12870673|REF_RGD_ID:1580782 12336208 LOC100687127 thioredoxin-like gene DOID:8805 intermediate coronary syndrome ISO RGD:732441 D RGD:9068941 20200609 RGD PMID:15749180|REF_RGD_ID:1580784 12336208 LOC100687127 thioredoxin-like gene DOID:9000965 Neoplasm Metastasis ISO RGD:732441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30396169 12336208 LOC100687127 thioredoxin-like gene DOID:9002170 Experimental Neoplasms ISO RGD:732441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28574600 12336208 LOC100687127 thioredoxin-like gene DOID:9004009 Reperfusion Injury ISO RGD:621157 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex PMID:19128823|REF_RGD_ID:5685030 12336208 LOC100687127 thioredoxin-like gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 12336208 LOC100687127 thioredoxin-like gene DOID:9004610 Acute Lung Injury ISO RGD:732441 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16298680 12336208 LOC100687127 thioredoxin-like gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621157 D RGD:9068941 20200609 RGD mRNA:altered expression:myocardium (rat) PMID:20571744|REF_RGD_ID:5133714 12336208 LOC100687127 thioredoxin-like gene DOID:9005835 Congenital Abnormalities ISO RGD:732441 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31310794 12336208 LOC100687127 thioredoxin-like gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:732441 D RGD:9068941 20200609 RGD PMID:15694802|REF_RGD_ID:1580783 12336208 LOC100687127 thioredoxin-like gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732442 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11462148 12336208 LOC100687127 thioredoxin-like gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:621157 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:18045550|REF_RGD_ID:2306159 12336208 LOC100687127 thioredoxin-like gene DOID:9008939 Breast Neoplasms ISO RGD:732441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30396169 12336208 LOC100687127 thioredoxin-like gene DOID:9452 fatty liver disease ISO RGD:621157 D RGD:9068941 20200609 RGD PMID:18578693|REF_RGD_ID:2306156 12336213 CFAP47 cilia and flagella associated protein 47 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12336213 CFAP47 cilia and flagella associated protein 47 gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1605820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 12336213 CFAP47 cilia and flagella associated protein 47 gene DOID:0112274 X-linked spermatogenic failure 3 ISO RGD:1605820 D RGD:7240710 20210310 OMIM 12336213 CFAP47 cilia and flagella associated protein 47 gene DOID:0112274 X-linked spermatogenic failure 3 ISO RGD:1605820 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 3 PMID:25741868|PMID:33472045 12336213 CFAP47 cilia and flagella associated protein 47 gene DOID:12336 male infertility ISO RGD:1620260 D RGD:9068941 20220825 MouseDO 12336213 CFAP47 cilia and flagella associated protein 47 gene DOID:12849 autistic disorder ISO RGD:1605820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12336213 CFAP47 cilia and flagella associated protein 47 gene DOID:630 genetic disease ISO RGD:1605820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336213 CFAP47 cilia and flagella associated protein 47 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12336213 CFAP47 cilia and flagella associated protein 47 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1605820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 12336288 ASTL astacin like metalloendopeptidase gene DOID:1059 intellectual disability ISO RGD:1349169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12336288 ASTL astacin like metalloendopeptidase gene DOID:5419 schizophrenia ISO RGD:1349169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12336288 ASTL astacin like metalloendopeptidase gene DOID:630 genetic disease ISO RGD:1349169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336288 ASTL astacin like metalloendopeptidase gene DOID:9004838 Oocyte/Zygote/Embryo Maturation Arrest 11 ISO RGD:1349169 D RGD:7240710 20211222 OMIM 12336288 ASTL astacin like metalloendopeptidase gene DOID:9004838 Oocyte/Zygote/Embryo Maturation Arrest 11 ISO RGD:1349169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 11 PMID:34704130 12336316 LOC102155336 zinc finger protein 805 gene DOID:630 genetic disease ISO RGD:1348682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336350 WFDC13 WAP four-disulfide core domain 13 gene DOID:2234 focal epilepsy ISO RGD:1352525 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12336350 WFDC13 WAP four-disulfide core domain 13 gene DOID:630 genetic disease ISO RGD:1352525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336350 WFDC13 WAP four-disulfide core domain 13 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1352525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12336361 LOC106559796 uncharacterized LOC106559796 gene DOID:3602 toxic encephalopathy ISO RGD:1353772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12336361 LOC106559796 uncharacterized LOC106559796 gene DOID:409 liver disease ISO RGD:1353772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12336361 LOC106559796 uncharacterized LOC106559796 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1353772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12336361 LOC106559796 uncharacterized LOC106559796 gene DOID:630 genetic disease ISO RGD:1353772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336361 LOC106559796 uncharacterized LOC106559796 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1353772 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12336367 SLC35A3 solute carrier family 35 member A3 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1318491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:28492532 12336367 SLC35A3 solute carrier family 35 member A3 gene DOID:630 genetic disease ISO RGD:1318491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24031089|PMID:25954003|PMID:27618451|PMID:28328131|PMID:28490743|PMID:28492532 12336367 SLC35A3 solute carrier family 35 member A3 gene DOID:9008858 Arthrogryposis, Impaired Intellectual Development, and Seizures ISO RGD:1318491 D RGD:7240710 20180130 OMIM 12336367 SLC35A3 solute carrier family 35 member A3 gene DOID:9008858 Arthrogryposis, Impaired Intellectual Development, and Seizures ISO RGD:1318491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:24031089|PMID:25741868|PMID:25954003|PMID:27618451|PMID:28328131|PMID:28490743|PMID:28492532|PMID:28777481|PMID:33416188|PMID:9536098 12336367 SLC35A3 solute carrier family 35 member A3 gene DOID:9269 maple syrup urine disease ISO RGD:1318491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 12336378 CLK4 CDC like kinase 4 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1321078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12336378 CLK4 CDC like kinase 4 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1321078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12336378 CLK4 CDC like kinase 4 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1321078 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12336378 CLK4 CDC like kinase 4 gene DOID:630 genetic disease ISO RGD:1321078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336401 TRMO tRNA methyltransferase O gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1313441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 12336401 TRMO tRNA methyltransferase O gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1313441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 12336401 TRMO tRNA methyltransferase O gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1313441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 12336401 TRMO tRNA methyltransferase O gene DOID:1059 intellectual disability ISO RGD:1313441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12336401 TRMO tRNA methyltransferase O gene DOID:12712 nephronophthisis ISO RGD:1313441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 12336401 TRMO tRNA methyltransferase O gene DOID:14004 thoracic aortic aneurysm ISO RGD:1313441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 12336401 TRMO tRNA methyltransferase O gene DOID:630 genetic disease ISO RGD:1313441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336401 TRMO tRNA methyltransferase O gene DOID:9001793 Generalized Epilepsy ISO RGD:1313441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 12336416 ALDH1L1 aldehyde dehydrogenase 1 family member L1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606025 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12336416 ALDH1L1 aldehyde dehydrogenase 1 family member L1 gene DOID:13580 cholestasis treatment ISO RGD:621294 D RGD:9068941 20200609 RGD PMID:30223280|REF_RGD_ID:15045612 12336416 ALDH1L1 aldehyde dehydrogenase 1 family member L1 gene DOID:630 genetic disease ISO RGD:1606025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336416 ALDH1L1 aldehyde dehydrogenase 1 family member L1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15650968 12336416 ALDH1L1 aldehyde dehydrogenase 1 family member L1 gene DOID:9002189 High Myopia ISO RGD:1606025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12336416 ALDH1L1 aldehyde dehydrogenase 1 family member L1 gene DOID:9002669 Hypoxia ISO RGD:1606025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 12336416 ALDH1L1 aldehyde dehydrogenase 1 family member L1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1606025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12336416 ALDH1L1 aldehyde dehydrogenase 1 family member L1 gene DOID:9270 alkaptonuria ISO RGD:1606025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12336416 ALDH1L1 aldehyde dehydrogenase 1 family member L1 gene DOID:9970 obesity ISO RGD:1606025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12336434 KIF11 kinesin family member 11 gene DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation ISO RGD:1346274 D RGD:7240710 20180130 OMIM 12336434 KIF11 kinesin family member 11 gene DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation ISO RGD:1346274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphedema, microcephaly and chorioretinopathy syndrome | ClinVar Annotator: match by term: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Microcephaly lymphedema chorioretinal dysplasia | ClinVar Annotator: match by term: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation PMID:15930898|PMID:17576681|PMID:22284827|PMID:22653704|PMID:24281367|PMID:25115524|PMID:25124931|PMID:25741868|PMID:25934493|PMID:26472404|PMID:26566857|PMID:27212378|PMID:28492532|PMID:30452590|PMID:30792901|PMID:31077665|PMID:31130284|PMID:32214227|PMID:33137195|PMID:33619735|PMID:34128965|PMID:9536098 12336434 KIF11 kinesin family member 11 gene DOID:0070051 autosomal dominant intellectual developmental disorder 21 ISO RGD:1346274 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome PMID:25741868 12336434 KIF11 kinesin family member 11 gene DOID:0080105 microcephaly and chorioretinopathy 1 ISO RGD:1346274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 1 PMID:25741868 12336434 KIF11 kinesin family member 11 gene DOID:0080600 COVID-19 ISO RGD:1346274 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12336434 KIF11 kinesin family member 11 gene DOID:10584 retinitis pigmentosa ISO RGD:1346274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa PMID:25741868|PMID:32214227 12336434 KIF11 kinesin family member 11 gene DOID:1059 intellectual disability ISO RGD:1346274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12336434 KIF11 kinesin family member 11 gene DOID:10907 microcephaly ISO RGD:1346274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12336434 KIF11 kinesin family member 11 gene DOID:1227 neutropenia ISO RGD:1346274 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:25741868|PMID:28492532 12336434 KIF11 kinesin family member 11 gene DOID:2843 long QT syndrome ISO RGD:1346274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12336434 KIF11 kinesin family member 11 gene DOID:630 genetic disease ISO RGD:1346274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15930898|PMID:17576681|PMID:22284827|PMID:25741868|PMID:25934493|PMID:28492532|PMID:9536098 12336434 KIF11 kinesin family member 11 gene DOID:684 hepatocellular carcinoma ISO RGD:1346274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12336434 KIF11 kinesin family member 11 gene DOID:8501 fundus dystrophy ISO RGD:1346274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532|PMID:30452590 12336434 KIF11 kinesin family member 11 gene DOID:9002170 Experimental Neoplasms ISO RGD:1346274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17974955 12336434 KIF11 kinesin family member 11 gene DOID:9003882 Chromosomal Instability ISO RGD:1346274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17974955 12336434 KIF11 kinesin family member 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346274 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12336434 KIF11 kinesin family member 11 gene DOID:9008582 Developmental Disease ISO RGD:1346274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12336434 KIF11 kinesin family member 11 gene DOID:9008692 Aneuploidy ISO RGD:1346274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17974955 12336460 CEP55 centrosomal protein 55 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:1313311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:24206907|PMID:28492532 12336460 CEP55 centrosomal protein 55 gene DOID:0070347 encephalopathy due to defective mitochondrial and peroxisomal fission 1 ISO RGD:1313311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 PMID:25741868 12336460 CEP55 centrosomal protein 55 gene DOID:0080327 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly ISO RGD:1313311 D RGD:7240710 20190315 OMIM 12336460 CEP55 centrosomal protein 55 gene DOID:0080600 COVID-19 ISO RGD:1313311 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12336460 CEP55 centrosomal protein 55 gene DOID:11612 polycystic ovary syndrome ISO RGD:1313311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12336460 CEP55 centrosomal protein 55 gene DOID:630 genetic disease ISO RGD:1313311 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16198290|PMID:25741868|PMID:28264986|PMID:28295209|PMID:28492532|PMID:30622327|PMID:32100459 12336460 CEP55 centrosomal protein 55 gene DOID:684 hepatocellular carcinoma ISO RGD:1313311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12336460 CEP55 centrosomal protein 55 gene DOID:893 Wilson disease ISO RGD:1313311 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hepatolenticular degeneration PMID:25741868|PMID:28264986|PMID:28295209|PMID:28492532|PMID:30622327|PMID:32100459 12336460 CEP55 centrosomal protein 55 gene DOID:9001099 Hydranencephaly with Renal Aplasia-Dysplasia ISO RGD:1313311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydranencephaly with renal aplasia-dysplasia PMID:25741868|PMID:28264986|PMID:28295209|PMID:28492532|PMID:30622327|PMID:32100459 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0050902 medulloblastoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:737145 D RGD:9068941 20200609 RGD DNA:mutation: : PMID:24936872|REF_RGD_ID:11522722 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0060058 lymphoma ISO RGD:737145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoma 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0060221 Maffucci syndrome ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: MULTIPLE ENCHONDROMATOSIS, MAFFUCCI TYPE PMID:19657110|PMID:20946881|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:737145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737145 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0080600 COVID-19 ISO RGD:737145 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0111537 paroxysmal extreme pain disorder ISO RGD:737145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal extreme pain disorder PMID:25741868|PMID:34298581 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:737145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:1909 melanoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:2256 osteochondrodysplasia ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Dyschondroplasia PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:737145 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:255 hemangioma ISO RGD:737145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22057234 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:2602 chondroma ISO RGD:737145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22057234|PMID:25895133 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:2671 transitional cell carcinoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3068 glioblastoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3068 glioblastoma disease_progression ISO RGD:737145 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R132(human) PMID:25495392|REF_RGD_ID:11074562 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3068 glioblastoma onset ISO RGD:737145 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R132H(human) PMID:19765000|REF_RGD_ID:11522732 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3070 high grade glioma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3070 high grade glioma susceptibility ISO RGD:737145 D RGD:7240710 20190502 OMIM 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3181 oligodendroglioma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Oligodendroglioma PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:36201590 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:737145 D RGD:9068941 20210723 RGD protein:increased expression:blood plasma (human) PMID:24046070|REF_RGD_ID:149735540 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737145 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:737145 D RGD:9068941 20210723 RGD mRNA:increased expression:lung (human) PMID:29537891|REF_RGD_ID:149735539 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:737145 D RGD:9068941 20210723 RGD protein:increased expression:blood plasma (human) PMID:24046070|REF_RGD_ID:149735540 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:417 autoimmune disease ISO RGD:737145 D RGD:9068941 20200609 RGD associated with intrahepatic cholangiocarcinoma; DNA:missense mutations:cds:p. R132C, R132G, and R132L (human) PMID:31121195|REF_RGD_ID:14974230 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:4624 Ollier disease ISO RGD:737145 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Enchondromatosis | ClinVar Annotator: match by term: Kast Syndrome | ClinVar Annotator: match by term: Multiple enchondromatosis PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:24728327|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:4928 intrahepatic cholangiocarcinoma no_association ISO RGD:737145 D RGD:9068941 20200609 RGD DNA:misssense mutations:cds:p.Arg132Cys,Arg132Leu (human) PMID:26245674|REF_RGD_ID:14974229 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:4947 cholangiocarcinoma ISO RGD:737145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24185509 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:5016 hepatocellular clear cell carcinoma disease_progression ISO RGD:737145 D RGD:9068941 20200609 RGD DNA:misssense mutation:cds:p.Arg132Cys(human) PMID:28403884|REF_RGD_ID:14974227 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:5016 hepatocellular clear cell carcinoma disease_progression ISO RGD:737145 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs12478635(human) PMID:25355558|REF_RGD_ID:14974228 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:630 genetic disease ISO RGD:737145 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:6536 plasma cell neoplasm ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:684 hepatocellular carcinoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:8923 skin melanoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9003571 Paraproteinemias ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9004590 Acute Liver Failure ISO RGD:737145 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:737145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9005837 Cholangiofibrosis severity ISO RGD:737145 D RGD:9068941 20200609 RGD associated with intrahepatic cholangiocarcinoma; DNA:missense mutations:cds:p. R132C, R132G, and R132L (human) PMID:31121195|REF_RGD_ID:14974230 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9007502 Brain Neoplasms ISO RGD:737145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain neoplasm PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9007502 Brain Neoplasms ISO RGD:737145 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brain Neoplasms PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9007502 Brain Neoplasms ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Brain Neoplasms PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737145 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9119 acute myeloid leukemia ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:29950729|PMID:30231226|PMID:36201590 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:737145 D RGD:9068941 20200609 RGD DNA:SNP::105C>T (rs11554137)(human) PMID:25324972|REF_RGD_ID:11522721 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:737145 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R132(human) PMID:20368543|REF_RGD_ID:11522718 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9538 multiple myeloma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22674224 12336473 IDH1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9970 obesity ISO RGD:10758 D RGD:9068941 20200609 RGD PMID:14969338|REF_RGD_ID:1626475 12336490 XRCC5 X-ray repair cross complementing 5 gene DOID:1749 squamous cell carcinoma ISO RGD:733855 D RGD:9068941 20200609 RGD protein:increased expression:epidermal cell, squamous cell of epidermis (human) PMID:16497868|REF_RGD_ID:8698657 12336490 XRCC5 X-ray repair cross complementing 5 gene DOID:1993 rectum cancer susceptibility ISO RGD:733855 D RGD:9068941 20220303 RGD DNA:SNP:3'utr: (rs1051677) (human) PMID:26735576|REF_RGD_ID:151361212 12336490 XRCC5 X-ray repair cross complementing 5 gene DOID:2513 basal cell carcinoma ISO RGD:733855 D RGD:9068941 20200609 RGD protein:increased expression:epidermal cell, basal cell of epidermis (human) PMID:16497868|REF_RGD_ID:8698657 12336490 XRCC5 X-ray repair cross complementing 5 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:733855 D RGD:9068941 20200609 RGD DNA:SNPs:multiple (human) PMID:20463177|REF_RGD_ID:8698653 12336490 XRCC5 X-ray repair cross complementing 5 gene DOID:3910 lung adenocarcinoma ISO RGD:733855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12336490 XRCC5 X-ray repair cross complementing 5 gene DOID:630 genetic disease ISO RGD:733855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336490 XRCC5 X-ray repair cross complementing 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12336490 XRCC5 X-ray repair cross complementing 5 gene DOID:9006205 Animal Disease Models ISO RGD:733855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12336490 XRCC5 X-ray repair cross complementing 5 gene DOID:9538 multiple myeloma susceptibility ISO RGD:733855 D RGD:9068941 20200609 RGD DNA:SNP:3'-UTR (human) PMID:17901044|REF_RGD_ID:8698655 12336515 RAB29 RAB29, member RAS oncogene family gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:736472 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12336515 RAB29 RAB29, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:736472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12336515 RAB29 RAB29, member RAS oncogene family gene DOID:1540 parathyroid carcinoma ISO RGD:736472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12336515 RAB29 RAB29, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:736472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336515 RAB29 RAB29, member RAS oncogene family gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736472 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12336515 RAB29 RAB29, member RAS oncogene family gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12336524 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:1317446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome 12336524 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:0050610 oral cavity carcinoma in situ disease_progression ISO RGD:1317446 D RGD:9068941 20200609 RGD PMID:27499128|REF_RGD_ID:28867233 12336524 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:0080600 COVID-19 ISO RGD:1317446 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12336524 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:0080909 castration-resistant prostate carcinoma treatment ISO RGD:1317446 D RGD:9068941 20200609 RGD PMID:28498618|REF_RGD_ID:28867238 12336524 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:10534 stomach cancer ISO RGD:1317446 D RGD:9068941 20200609 RGD PMID:19081476|REF_RGD_ID:28867243 12336524 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:10534 stomach cancer ISO RGD:1317446 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach PMID:19878654|REF_RGD_ID:28867241 12336524 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:1540 parathyroid carcinoma ISO RGD:1317446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12336524 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:1612 breast cancer disease_progression ISO RGD:1317446 D RGD:9068941 20200609 RGD PMID:31140425|PMID:31198978|REF_RGD_ID:28867230|REF_RGD_ID:28867231 12336524 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:1793 pancreatic cancer ISO RGD:1317446 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:26045769|REF_RGD_ID:11058437 12336524 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:1793 pancreatic cancer treatment ISO RGD:1317446 D RGD:9068941 20200609 RGD PMID:25370920|REF_RGD_ID:28867232 12336524 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:1909 melanoma disease_progression ISO RGD:1317446 D RGD:9068941 20200609 RGD PMID:27237743|REF_RGD_ID:28867234 12336524 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1317446 D RGD:9068941 20200609 RGD PMID:17079454|REF_RGD_ID:28867236 12336524 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1317446 D RGD:9068941 20200611 RGD PMID:32226507|REF_RGD_ID:28912743 12336524 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:630 genetic disease ISO RGD:1317446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336524 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:684 hepatocellular carcinoma ISO RGD:1317446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12336524 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1317446 D RGD:9068941 20200611 RGD PMID:31933938|REF_RGD_ID:28912742 12336524 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1317446 D RGD:9068941 20200609 RGD PMID:30653265|REF_RGD_ID:28867240 12336524 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:9001308 Wittwer Syndrome ISO RGD:1317446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wittwer syndrome 12336524 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:9007661 Dwarfism ISO RGD:1317446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:33721060 12336524 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12336524 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:9256 colorectal cancer ISO RGD:1317446 D RGD:9068941 20200609 RGD mRNA:increased expression:colorectum PMID:19878654|REF_RGD_ID:28867241 12336524 NUF2 NUF2 component of NDC80 kinetochore complex gene DOID:9256 colorectal cancer disease_progression ISO RGD:1317446 D RGD:9068941 20200609 RGD PMID:24247253|REF_RGD_ID:28867244 12336542 NOP14 NOP14 nucleolar protein gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1313732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12336542 NOP14 NOP14 nucleolar protein gene DOID:1856 cherubism ISO RGD:1313732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12336542 NOP14 NOP14 nucleolar protein gene DOID:630 genetic disease ISO RGD:1313732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336564 MBL1 mannose binding lectin 1 gene DOID:0050073 invasive aspergillosis ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs5030737(human) PMID:17311505|REF_RGD_ID:8693758 12336564 MBL1 mannose binding lectin 1 gene DOID:0050117 disease by infectious agent ISO RGD:735547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7707811 12336564 MBL1 mannose binding lectin 1 gene DOID:0050117 disease by infectious agent ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:haplotype,SNP:promoter: PMID:22444663|REF_RGD_ID:8693694 12336564 MBL1 mannose binding lectin 1 gene DOID:0050117 disease by infectious agent no_association ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Precursor T-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphisms:promoter,exon: PMID:16494622|REF_RGD_ID:11530059 12336564 MBL1 mannose binding lectin 1 gene DOID:0050144 Kartagener syndrome severity ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:haplotype:promoter: PMID:24753481|REF_RGD_ID:11250592 12336564 MBL1 mannose binding lectin 1 gene DOID:0050697 chorioamnionitis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.G54D(human) PMID:15723707|REF_RGD_ID:12910932 12336564 MBL1 mannose binding lectin 1 gene DOID:0060496 respiratory allergy susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:intron:1011G>A(human) PMID:16487239|REF_RGD_ID:8693711 12336564 MBL1 mannose binding lectin 1 gene DOID:0080159 cryptococcal meningitis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with HIV Infections;DNA:polymorphism:cds: PMID:21592999|REF_RGD_ID:12910861 12336564 MBL1 mannose binding lectin 1 gene DOID:0080162 lupus nephritis disease_progression ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:24850777|REF_RGD_ID:12910847 12336564 MBL1 mannose binding lectin 1 gene DOID:0080599 Coronavirus infectious disease ISO RGD:735547 D RGD:9068941 20200609 RGD Severe Acute Respiratory Syndrome; DNA:mutations:5' utr, exon:g.-221G>C, p.G54N (human) PMID:15838797|REF_RGD_ID:4889467 12336564 MBL1 mannose binding lectin 1 gene DOID:10003 sensorineural hearing loss susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:cds: PMID:23246423|REF_RGD_ID:8693695 12336564 MBL1 mannose binding lectin 1 gene DOID:10223 dermatomyositis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.G54D,G57E(human) PMID:12485445|REF_RGD_ID:8693750 12336564 MBL1 mannose binding lectin 1 gene DOID:104 bacterial infectious disease susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphism:exon: PMID:24453114|REF_RGD_ID:11530056 12336564 MBL1 mannose binding lectin 1 gene DOID:10457 Legionnaires' disease susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:19073229|REF_RGD_ID:12910934 12336564 MBL1 mannose binding lectin 1 gene DOID:10652 Alzheimer's disease ISO RGD:735547 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid (human) PMID:9631454|REF_RGD_ID:4889155 12336564 MBL1 mannose binding lectin 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:haplotype:promoter: PMID:23348713|REF_RGD_ID:12910848 12336564 MBL1 mannose binding lectin 1 gene DOID:1070 primary open angle glaucoma ISO RGD:735547 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22335808|REF_RGD_ID:8693705 12336564 MBL1 mannose binding lectin 1 gene DOID:10754 otitis media ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:haplotype,SNP:promoter,exons: PMID:16750996|REF_RGD_ID:8693692 12336564 MBL1 mannose binding lectin 1 gene DOID:10887 lepromatous leprosy susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:cds:161G>A (human) PMID:20650301|REF_RGD_ID:8694069 12336564 MBL1 mannose binding lectin 1 gene DOID:11162 respiratory failure ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:mutations:5' utr, exon:multiple (human) PMID:18582923|REF_RGD_ID:4889496 12336564 MBL1 mannose binding lectin 1 gene DOID:11394 adult respiratory distress syndrome susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.G54N (human) PMID:17133182|REF_RGD_ID:4889476 12336564 MBL1 mannose binding lectin 1 gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Premature Birth;DNA:polymorphism:exon: PMID:22882323|REF_RGD_ID:12910846 12336564 MBL1 mannose binding lectin 1 gene DOID:11714 gestational diabetes ISO RGD:735547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15472209 12336564 MBL1 mannose binding lectin 1 gene DOID:12177 common variable immunodeficiency ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:p.R52C, p.G54N, p.G57E (human) PMID:10652157|REF_RGD_ID:4889436 12336564 MBL1 mannose binding lectin 1 gene DOID:12306 vitiligo no_association ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, exon: PMID:19416237|REF_RGD_ID:8693724 12336564 MBL1 mannose binding lectin 1 gene DOID:12306 vitiligo susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:17337399|REF_RGD_ID:8693723 12336564 MBL1 mannose binding lectin 1 gene DOID:12375 bronchopneumonia ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Down Syndrome; protein:decreased secretion:serum (human) PMID:19804807|REF_RGD_ID:4889483 12336564 MBL1 mannose binding lectin 1 gene DOID:12554 hemolytic-uremic syndrome treatment ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:27378476|REF_RGD_ID:11530050 12336564 MBL1 mannose binding lectin 1 gene DOID:12716 newborn respiratory distress syndrome disease_progression ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:25879044|REF_RGD_ID:12910849 12336564 MBL1 mannose binding lectin 1 gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:735547 D RGD:9068941 20200609 RGD Chronic Necrotizing Pulmonary Aspergillosis; DNA:missense mutation:exon:p.R52C (human) PMID:11474427|REF_RGD_ID:4889577 12336564 MBL1 mannose binding lectin 1 gene DOID:13166 allergic bronchopulmonary aspergillosis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:intron:1011G>A(human) PMID:16487239|REF_RGD_ID:8693711 12336564 MBL1 mannose binding lectin 1 gene DOID:1324 lung cancer susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:multiple (human) PMID:19959685|REF_RGD_ID:4889433 12336564 MBL1 mannose binding lectin 1 gene DOID:13241 Behcet's disease severity ISO RGD:735547 D RGD:9068941 20200609 RGD protein:decreased secretion:serum (human) PMID:15693089|REF_RGD_ID:1582155 12336564 MBL1 mannose binding lectin 1 gene DOID:13241 Behcet's disease susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr, exon:multiple (human) PMID:15730518|REF_RGD_ID:1582154 12336564 MBL1 mannose binding lectin 1 gene DOID:13375 temporal arteritis ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:cds: PMID:12375325|REF_RGD_ID:8693752 12336564 MBL1 mannose binding lectin 1 gene DOID:13378 Kawasaki disease ISO RGD:731472 D RGD:9068941 20200609 RGD PMID:24721319|REF_RGD_ID:8693744 12336564 MBL1 mannose binding lectin 1 gene DOID:13378 Kawasaki disease susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:cds: PMID:15144709|REF_RGD_ID:8693748 12336564 MBL1 mannose binding lectin 1 gene DOID:13450 coccidioidomycosis ISO RGD:735547 D RGD:9068941 20200609 RGD protein:decreased secretion:serum (human) PMID:19083122|REF_RGD_ID:4889458 12336564 MBL1 mannose binding lectin 1 gene DOID:13564 aspergillosis susceptibility ISO RGD:731472 D RGD:9068941 20200609 RGD PMID:20064561|REF_RGD_ID:8694071 12336564 MBL1 mannose binding lectin 1 gene DOID:14067 Plasmodium falciparum malaria susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:haplotype:exon: PMID:18396436|REF_RGD_ID:11530064 12336564 MBL1 mannose binding lectin 1 gene DOID:14115 toxic shock syndrome susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with acute pyelonephritis;DNA:SNPs, missense mutations, haplotypes:promoter, cds:multiple PMID:17202308|REF_RGD_ID:6903268 12336564 MBL1 mannose binding lectin 1 gene DOID:1485 cystic fibrosis ISO RGD:735547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:10071515|PMID:10449435|PMID:15674393|PMID:16912583|PMID:18292811|PMID:20068595|PMID:22323042|PMID:22377282|PMID:22940091|PMID:24753481|PMID:25178872|PMID:28492532|PMID:7707811|PMID:8206524 12336564 MBL1 mannose binding lectin 1 gene DOID:1485 cystic fibrosis severity ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr, exon:multiple (human) PMID:10449435|REF_RGD_ID:4889447 12336564 MBL1 mannose binding lectin 1 gene DOID:1485 cystic fibrosis severity ISO RGD:735547 D RGD:9068941 20200609 RGD protein:decreased secretion:serum (human) PMID:16879250|REF_RGD_ID:4889443 12336564 MBL1 mannose binding lectin 1 gene DOID:1564 fungal infectious disease treatment ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Hematologic Diseases;DNA:polymorphisms:promoter,exon: PMID:24886325|REF_RGD_ID:11530048 12336564 MBL1 mannose binding lectin 1 gene DOID:1588 thrombocytopenia susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Dengue;DNA:SNP:exon: PMID:18361938|REF_RGD_ID:11530042 12336564 MBL1 mannose binding lectin 1 gene DOID:1733 cryptosporidiosis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:promoter,exon: PMID:19827946|REF_RGD_ID:12910843 12336564 MBL1 mannose binding lectin 1 gene DOID:1883 hepatitis C susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:exon: PMID:19703233|REF_RGD_ID:14696815 12336564 MBL1 mannose binding lectin 1 gene DOID:1883 hepatitis C susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter, exon: PMID:20570631|REF_RGD_ID:14696832 12336564 MBL1 mannose binding lectin 1 gene DOID:2043 hepatitis B disease_progression ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:haplotype:promoter,exon: PMID:16231358|REF_RGD_ID:14696834 12336564 MBL1 mannose binding lectin 1 gene DOID:2272 vulvovaginal candidiasis ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:cds: PMID:17470593|REF_RGD_ID:8693700 12336564 MBL1 mannose binding lectin 1 gene DOID:2297 leptospirosis severity ISO RGD:735547 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19330263|REF_RGD_ID:6903260 12336564 MBL1 mannose binding lectin 1 gene DOID:2394 ovarian cancer ISO RGD:735547 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary: PMID:25038892|REF_RGD_ID:12910855 12336564 MBL1 mannose binding lectin 1 gene DOID:2394 ovarian cancer susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms,haplotype:exon,promoter: PMID:25038892|REF_RGD_ID:12910855 12336564 MBL1 mannose binding lectin 1 gene DOID:2799 bronchiolitis obliterans resistance ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:transversion:5' utr:-290C>G rs7096206 (human) PMID:19104434|REF_RGD_ID:4889456 12336564 MBL1 mannose binding lectin 1 gene DOID:2841 asthma ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Bronchiolitis;DNA:polymorphism:exon: PMID:22512728|REF_RGD_ID:8693709 12336564 MBL1 mannose binding lectin 1 gene DOID:2841 asthma susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.G54D(human) PMID:22674410|REF_RGD_ID:12910828 12336564 MBL1 mannose binding lectin 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr, exon:multiple (human) PMID:19199550|REF_RGD_ID:4889452 12336564 MBL1 mannose binding lectin 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr, exon:multiple (human) PMID:20688922|REF_RGD_ID:4889421 12336564 MBL1 mannose binding lectin 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735547 D RGD:9068941 20200609 RGD protein:decreased secretion:lung (human) PMID:19411612|REF_RGD_ID:4889448 12336564 MBL1 mannose binding lectin 1 gene DOID:3310 atopic dermatitis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, exon: PMID:20642202|REF_RGD_ID:8693720 12336564 MBL1 mannose binding lectin 1 gene DOID:3312 bipolar disorder susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:haplotype: : PMID:24856568|REF_RGD_ID:12910826 12336564 MBL1 mannose binding lectin 1 gene DOID:3385 bacterial vaginosis ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:cds: PMID:17470593|REF_RGD_ID:8693700 12336564 MBL1 mannose binding lectin 1 gene DOID:341 peripheral vascular disease susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome; DNA:mutations:5' utr, exon:g.-221G>C, p.G54N (human) PMID:15295097|REF_RGD_ID:1582151 12336564 MBL1 mannose binding lectin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Common Variable Immunodeficiency; DNA:polymorphisms:5' utr, exon:multiple (human) PMID:18637104|REF_RGD_ID:4889479 12336564 MBL1 mannose binding lectin 1 gene DOID:409 liver disease ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis; DNA:polymorphisms:5' utr, exon:multiple (human) PMID:19467940|REF_RGD_ID:4889446 12336564 MBL1 mannose binding lectin 1 gene DOID:4247 coronary restenosis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr, exon:multiple (human) PMID:15790942|REF_RGD_ID:1582150 12336564 MBL1 mannose binding lectin 1 gene DOID:4483 rhinitis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:18831943|REF_RGD_ID:8693717 12336564 MBL1 mannose binding lectin 1 gene DOID:5082 liver cirrhosis severity ISO RGD:735547 D RGD:9068941 20200609 RGD associated with hepatitis C; DNA:haplotype:promoter, exon: PMID:20570631|REF_RGD_ID:14696832 12336564 MBL1 mannose binding lectin 1 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:SNP:exon: PMID:26857650|REF_RGD_ID:14696836 12336564 MBL1 mannose binding lectin 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16960176 12336564 MBL1 mannose binding lectin 1 gene DOID:526 human immunodeficiency virus infectious disease no_association ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:26348711|REF_RGD_ID:12910931 12336564 MBL1 mannose binding lectin 1 gene DOID:526 human immunodeficiency virus infectious disease severity ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:19796822|REF_RGD_ID:12910857 12336564 MBL1 mannose binding lectin 1 gene DOID:552 pneumonia ISO RGD:735547 D RGD:9068941 20200609 RGD protein:increased expression:Bronchoalveolar lavage: PMID:15249448|REF_RGD_ID:8693755 12336564 MBL1 mannose binding lectin 1 gene DOID:552 pneumonia ISO RGD:735547 D RGD:9068941 20200609 RGD protein:increased secretion:lung (human) PMID:18988662|REF_RGD_ID:4889459 12336564 MBL1 mannose binding lectin 1 gene DOID:57 aortic valve insufficiency susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Rheumatic Fever;DNA:polymorphism:exon: PMID:18400978|REF_RGD_ID:12910860 12336564 MBL1 mannose binding lectin 1 gene DOID:574 peripheral nervous system disease ISO RGD:735547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 12336564 MBL1 mannose binding lectin 1 gene DOID:594 panic disorder susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:24856568|REF_RGD_ID:12910826 12336564 MBL1 mannose binding lectin 1 gene DOID:630 genetic disease ISO RGD:735547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336564 MBL1 mannose binding lectin 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:18334024|REF_RGD_ID:12910845 12336564 MBL1 mannose binding lectin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735547 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:27557564|REF_RGD_ID:14696835 12336564 MBL1 mannose binding lectin 1 gene DOID:684 hepatocellular carcinoma no_association ISO RGD:735547 D RGD:9068941 20200609 RGD associated with viral hepatitis;DNA:polymorphisms:exon: PMID:18221301|REF_RGD_ID:14696829 12336564 MBL1 mannose binding lectin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:735547 D RGD:9068941 20200609 RGD associated with hepatitis C;DNA:SNP: :221C>G(rs709620)(human) PMID:21733090|REF_RGD_ID:14696813 12336564 MBL1 mannose binding lectin 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:rs7096206(human) PMID:25787238|REF_RGD_ID:14696833 12336564 MBL1 mannose binding lectin 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with hepatitis B-related cirrhosis;DNA:SNP: :rs11003123(G>A)(human) PMID:27298104|REF_RGD_ID:14696814 12336564 MBL1 mannose binding lectin 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:SNP:exon: PMID:26857650|REF_RGD_ID:14696836 12336564 MBL1 mannose binding lectin 1 gene DOID:7188 autoimmune thyroiditis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:22360648|REF_RGD_ID:8693703 12336564 MBL1 mannose binding lectin 1 gene DOID:7188 autoimmune thyroiditis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with hepatitis C;DNA:SNP:exon: PMID:19703233|REF_RGD_ID:14696815 12336564 MBL1 mannose binding lectin 1 gene DOID:783 end stage renal disease ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;DNA:polymorphisms PMID:16801331|REF_RGD_ID:6903261 12336564 MBL1 mannose binding lectin 1 gene DOID:853 polymyalgia rheumatica ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:cds: PMID:12375325|REF_RGD_ID:8693752 12336564 MBL1 mannose binding lectin 1 gene DOID:8566 herpes simplex ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:15498041|REF_RGD_ID:8693727 12336564 MBL1 mannose binding lectin 1 gene DOID:8566 herpes simplex disease_progression ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:15498041|REF_RGD_ID:8693727 12336564 MBL1 mannose binding lectin 1 gene DOID:8566 herpes simplex susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:cds: PMID:19480845|REF_RGD_ID:8693725 12336564 MBL1 mannose binding lectin 1 gene DOID:874 bacterial pneumonia ISO RGD:735547 D RGD:9068941 20200609 RGD Legionella Pneumonia; DNA:mutations:5' utr, exon:multiple (human) PMID:18641104|REF_RGD_ID:4889477 12336564 MBL1 mannose binding lectin 1 gene DOID:8778 Crohn's disease susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds: PMID:21702710|REF_RGD_ID:12910842 12336564 MBL1 mannose binding lectin 1 gene DOID:8893 psoriasis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:cds: PMID:23113841|REF_RGD_ID:8693722 12336564 MBL1 mannose binding lectin 1 gene DOID:9000431 Mannose-Binding Protein Deficiency ISO RGD:735547 D RGD:7240710 20180130 OMIM 12336564 MBL1 mannose binding lectin 1 gene DOID:9000431 Mannose-Binding Protein Deficiency ISO RGD:735547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mannose-binding lectin deficiency PMID:10071515|PMID:10449435|PMID:10888598|PMID:1303250|PMID:1304173|PMID:14568388|PMID:1458688|PMID:15472209|PMID:15674393|PMID:15829288|PMID:16395391|PMID:1675710|PMID:16885193|PMID:16912583|PMID:18292811|PMID:20068595|PMID:22323042|PMID:22363494|PMID:22377282|PMID:22940091|PMID:24033266|PMID:24753481|PMID:25178872|PMID:25741868|PMID:28492532|PMID:29210071|PMID:33116287|PMID:7707811|PMID:8206524 12336564 MBL1 mannose binding lectin 1 gene DOID:9000998 Brain Injuries disease_progression ISO RGD:731472 D RGD:9068941 20200609 RGD PMID:18183030|REF_RGD_ID:12910935 12336564 MBL1 mannose binding lectin 1 gene DOID:9001472 Nasal Polyps ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Sinusitis; protein:increased secretion:serum (human) PMID:19593977|REF_RGD_ID:4889484 12336564 MBL1 mannose binding lectin 1 gene DOID:9001665 Aneurysm ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome; DNA:polymorphisms:5' utr, exon:multiple (human) PMID:16385529|REF_RGD_ID:1582153 12336564 MBL1 mannose binding lectin 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr, exon:multiple (human) PMID:12047967|REF_RGD_ID:4889478 12336564 MBL1 mannose binding lectin 1 gene DOID:9002106 Pneumococcal Pneumonia no_association ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:mutations:5' utr, exon:multiple (human) PMID:18641104|REF_RGD_ID:4889477 12336564 MBL1 mannose binding lectin 1 gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia disease progression ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphisms:exon: PMID:24453114|REF_RGD_ID:11530056 12336564 MBL1 mannose binding lectin 1 gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Neoplasms;DNA:SNP,haplotyep:promoter: PMID:20930093|REF_RGD_ID:11530043 12336564 MBL1 mannose binding lectin 1 gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with leukemia; PMID:24819208|REF_RGD_ID:11530041 12336564 MBL1 mannose binding lectin 1 gene DOID:9003197 Vaso-occlusive Crisis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:promoter,exon: PMID:20172753|REF_RGD_ID:11530044 12336564 MBL1 mannose binding lectin 1 gene DOID:9003219 Invasive Pulmonary Aspergillosis treatment ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:17335555|REF_RGD_ID:8693746 12336564 MBL1 mannose binding lectin 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:multiple: PMID:18927129|REF_RGD_ID:12910825 12336564 MBL1 mannose binding lectin 1 gene DOID:9003507 Premature Birth ISO RGD:735547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16912583 12336564 MBL1 mannose binding lectin 1 gene DOID:9003536 Familial Thoracic Aortic Aneurysm 8 ISO RGD:735547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 PMID:28492532 12336564 MBL1 mannose binding lectin 1 gene DOID:9003646 Arterial Thrombosis treatment ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:25482922|REF_RGD_ID:11530049 12336564 MBL1 mannose binding lectin 1 gene DOID:9003996 Birth Weight ISO RGD:735547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20923744 12336564 MBL1 mannose binding lectin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:731472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15509537|REF_RGD_ID:6903263 12336564 MBL1 mannose binding lectin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:15882434|REF_RGD_ID:6903262 12336564 MBL1 mannose binding lectin 1 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNPs:promoter,exon: PMID:18336595|REF_RGD_ID:14696820 12336564 MBL1 mannose binding lectin 1 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:haplotype:promoter, exon: PMID:25956563|REF_RGD_ID:11076743 12336564 MBL1 mannose binding lectin 1 gene DOID:9004272 Varicose Ulcer ISO RGD:735547 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:19997692|REF_RGD_ID:8694068 12336564 MBL1 mannose binding lectin 1 gene DOID:9004422 Chagas Cardiomyopathy severity ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:26745156|REF_RGD_ID:11076757 12336564 MBL1 mannose binding lectin 1 gene DOID:9004484 Sepsis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Premature Birth;DNA:polymorphism:exon: PMID:22882323|REF_RGD_ID:12910846 12336564 MBL1 mannose binding lectin 1 gene DOID:9004562 Smoke Inhalation Injury ISO RGD:735547 D RGD:9068941 20200609 RGD mouse model PMID:19411612|REF_RGD_ID:4889448 12336564 MBL1 mannose binding lectin 1 gene DOID:9004968 Yin Deficiency treatment ISO RGD:67380 D RGD:9068941 20220915 RGD PMID:29729385|REF_RGD_ID:153350148 12336564 MBL1 mannose binding lectin 1 gene DOID:9005036 Bacteremia treatment ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Multiple Myeloma:DNA:polymorphism:exon: PMID:16953214|REF_RGD_ID:11530047 12336564 MBL1 mannose binding lectin 1 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:20712489|REF_RGD_ID:4889482 12336564 MBL1 mannose binding lectin 1 gene DOID:9006262 Cytomegalovirus Infections severity ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:exon PMID:19715891|REF_RGD_ID:6903267 12336564 MBL1 mannose binding lectin 1 gene DOID:9006771 Chronic Rhinosinusitis ISO RGD:735547 D RGD:9068941 20200609 RGD protein:decreased activity:serum: PMID:23144819|REF_RGD_ID:8693716 12336564 MBL1 mannose binding lectin 1 gene DOID:9007355 Hashimoto Disease susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:22360648|REF_RGD_ID:8693703 12336564 MBL1 mannose binding lectin 1 gene DOID:9007417 Pseudomonas Infections onset ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis; DNA:polymorphisms:5' utr, exon:multiple (human) PMID:20068595|REF_RGD_ID:4889579 12336564 MBL1 mannose binding lectin 1 gene DOID:9007425 Diffuse Panbronchiolitis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.G54D(rs1800450)(human) PMID:15249448|REF_RGD_ID:8693755 12336564 MBL1 mannose binding lectin 1 gene DOID:9007755 Intestinal Reperfusion Injury severity ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:exon: PMID:19477015|REF_RGD_ID:12910933 12336564 MBL1 mannose binding lectin 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:25482922|REF_RGD_ID:11530049 12336564 MBL1 mannose binding lectin 1 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:haplotype: : PMID:27824315|REF_RGD_ID:14696831 12336564 MBL1 mannose binding lectin 1 gene DOID:9008212 Diabetic Foot ISO RGD:735547 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19997692|REF_RGD_ID:8694068 12336564 MBL1 mannose binding lectin 1 gene DOID:9008680 Respiratory Tract Infections ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr, exon:multiple (human) PMID:19767106|REF_RGD_ID:4889439 12336564 MBL1 mannose binding lectin 1 gene DOID:9008680 Respiratory Tract Infections susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.G54D(rs1800450)(human) PMID:15249448|REF_RGD_ID:8693755 12336564 MBL1 mannose binding lectin 1 gene DOID:9008680 Respiratory Tract Infections susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD protein:decreased secretion:serum (human) PMID:19169708|REF_RGD_ID:4889453 12336564 MBL1 mannose binding lectin 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:exon PMID:21510992|REF_RGD_ID:6903266 12336564 MBL1 mannose binding lectin 1 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP,haplotype:cds:p.G54D,G57E(human) PMID:11561111|REF_RGD_ID:5147979 12336564 MBL1 mannose binding lectin 1 gene DOID:9146 visceral leishmaniasis ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:17357060|REF_RGD_ID:8693721 12336564 MBL1 mannose binding lectin 1 gene DOID:9146 visceral leishmaniasis ISO RGD:735547 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:26297290|REF_RGD_ID:11522692 12336564 MBL1 mannose binding lectin 1 gene DOID:9146 visceral leishmaniasis disease_progression ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:17357060|REF_RGD_ID:8693721 12336564 MBL1 mannose binding lectin 1 gene DOID:9146 visceral leishmaniasis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:promoter,exon: PMID:26297290|REF_RGD_ID:11522692 12336564 MBL1 mannose binding lectin 1 gene DOID:9146 visceral leishmaniasis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: PMID:22995279|REF_RGD_ID:8693726 12336564 MBL1 mannose binding lectin 1 gene DOID:9182 pemphigus ISO RGD:735547 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:21327568|REF_RGD_ID:8693728 12336564 MBL1 mannose binding lectin 1 gene DOID:9563 bronchiectasis ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Common Variable Immunodeficiency; protein:decreased secretion:serum (human) PMID:20568383|REF_RGD_ID:4889425 12336564 MBL1 mannose binding lectin 1 gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:18361935|REF_RGD_ID:12910829 12336564 MBL1 mannose binding lectin 1 gene DOID:9970 obesity ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.R52C, p.G57E (human) PMID:16955210|REF_RGD_ID:4889156 12336576 DYNLRB2 dynein light chain roadblock-type 2 gene DOID:0110256 cataract 21 multiple types ISO RGD:1315823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 21 multiple types PMID:28492532 12336576 DYNLRB2 dynein light chain roadblock-type 2 gene DOID:630 genetic disease ISO RGD:1315823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336576 DYNLRB2 dynein light chain roadblock-type 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1315823 D RGD:9068941 20200609 RGD PMID:11750132|REF_RGD_ID:13208527 12336584 MTHFD2L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like gene DOID:630 genetic disease ISO RGD:1345478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336584 MTHFD2L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1345478 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12336597 OPN1SW opsin 1, short wave sensitive gene DOID:0060224 atrial fibrillation ISO RGD:736424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12336597 OPN1SW opsin 1, short wave sensitive gene DOID:11661 blue color blindness ISO RGD:736424 D RGD:7240710 20180130 OMIM 12336597 OPN1SW opsin 1, short wave sensitive gene DOID:11661 blue color blindness ISO RGD:736424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Blue color blindness PMID:1386496|PMID:1531728|PMID:25741868|PMID:28492532|PMID:2937147 12336597 OPN1SW opsin 1, short wave sensitive gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12336597 OPN1SW opsin 1, short wave sensitive gene DOID:630 genetic disease ISO RGD:736424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12336606 ITGB4 integrin subunit beta 4 gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:733257 D RGD:7240710 20180130 OMIM 12336606 ITGB4 integrin subunit beta 4 gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:733257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia PMID:10484780|PMID:11251584|PMID:11328943|PMID:11886501|PMID:12485428|PMID:16473856|PMID:17576681|PMID:18348258|PMID:18955862|PMID:20301304|PMID:20301336|PMID:23013259|PMID:23496044|PMID:24033266|PMID:25741868|PMID:26739954|PMID:28492532|PMID:6177243|PMID:7545057|PMID:9536098|PMID:9546354|PMID:9674902|PMID:9792864|PMID:9892956 12336606 ITGB4 integrin subunit beta 4 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:733257 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:25741868|PMID:28492532 12336606 ITGB4 integrin subunit beta 4 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:733257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12336606 ITGB4 integrin subunit beta 4 gene DOID:1184 nephrotic syndrome ISO RGD:733257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:28492532 12336606 ITGB4 integrin subunit beta 4 gene DOID:14695 galactokinase deficiency ISO RGD:733257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of galactokinase PMID:10790206|PMID:25741868|PMID:28492532 12336606 ITGB4 integrin subunit beta 4 gene DOID:2121 ectodermal dysplasia ISO RGD:733257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18348258 12336606 ITGB4 integrin subunit beta 4 gene DOID:2661 myoepithelioma ISO RGD:733257 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12336606 ITGB4 integrin subunit beta 4 gene DOID:2730 epidermolysis bullosa ISO RGD:733257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18348258 12336606 ITGB4 integrin subunit beta 4 gene DOID:3209 junctional epidermolysis bullosa ISO RGD:733257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7545057 12336606 ITGB4 integrin subunit beta 4 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27107458 12336606 ITGB4 integrin subunit beta 4 gene DOID:630 genetic disease ISO RGD:733257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12336606 ITGB4 integrin subunit beta 4 gene DOID:9002684 Localized Epidermolysis Bullosa Simplex 1C ISO RGD:733257 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized PMID:25741868|PMID:28492532 12336606 ITGB4 integrin subunit beta 4 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:733257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12336606 ITGB4 integrin subunit beta 4 gene DOID:9003281 Spontaneous Abortions ISO RGD:733257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12336606 ITGB4 integrin subunit beta 4 gene DOID:9003431 Junctional Epidermolysis Bullosa 5A, Intermediate ISO RGD:733257 D RGD:7240710 20220608 OMIM 12336606 ITGB4 integrin subunit beta 4 gene DOID:9003431 Junctional Epidermolysis Bullosa 5A, Intermediate ISO RGD:733257 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 5A, intermediate PMID:10792571|PMID:12485428|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|PMID:9546354|PMID:9892956 12336606 ITGB4 integrin subunit beta 4 gene DOID:9007402 Gliosis ISO RGD:733257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12851778 12336606 ITGB4 integrin subunit beta 4 gene DOID:9007499 Pyloric Atresia ISO RGD:733257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18348258|PMID:7545057 12336650 FADS2 fatty acid desaturase 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:68475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12336650 FADS2 fatty acid desaturase 2 gene DOID:1059 intellectual disability ISO RGD:68475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12336650 FADS2 fatty acid desaturase 2 gene DOID:3312 bipolar disorder ISO RGD:68475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12336650 FADS2 fatty acid desaturase 2 gene DOID:630 genetic disease ISO RGD:68475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336650 FADS2 fatty acid desaturase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12336650 FADS2 fatty acid desaturase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:68475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 12336650 FADS2 fatty acid desaturase 2 gene DOID:9455 lipid storage disease ISO RGD:68475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21123845 12336666 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:0050451 Brugada syndrome ISO RGD:1345791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:11839626|PMID:15140536|PMID:16199547|PMID:17967976|PMID:17967977|PMID:19606473|PMID:19666841|PMID:19745168|PMID:19815826|PMID:20724705|PMID:22584458|PMID:22995991|PMID:23414114|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:26743238|PMID:27435932|PMID:27930701|PMID:28008009|PMID:28492532|PMID:28798025|PMID:28837624|PMID:29077258|PMID:29247119|PMID:29714131|PMID:30662450|PMID:30847666|PMID:31043699|PMID:31618753|PMID:31737537|PMID:31980526|PMID:32695137 12336666 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:0050700 cardiomyopathy ISO RGD:1345791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25741868|PMID:28492532 12336666 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1345791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:15140536|PMID:17967976|PMID:19606473|PMID:19815826|PMID:22995991|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:28492532|PMID:28837624 12336666 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:0110219 Brugada syndrome 2 ISO RGD:1345791 D RGD:7240710 20180130 OMIM 12336666 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:0110219 Brugada syndrome 2 ISO RGD:1345791 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome 2 PMID:11839626|PMID:15140536|PMID:16199547|PMID:17967976|PMID:17967977|PMID:19606473|PMID:19666841|PMID:19745168|PMID:19815826|PMID:20724705|PMID:22995991|PMID:23414114|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:26743238|PMID:27435932|PMID:27930701|PMID:28008009|PMID:28492532|PMID:28798025|PMID:28837624|PMID:29077258|PMID:29247119|PMID:29714131|PMID:30662450|PMID:30847666|PMID:31043699|PMID:31618753|PMID:31737537|PMID:31980526|PMID:32695137 12336666 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1345791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:15140536|PMID:17967976|PMID:19606473|PMID:19815826|PMID:22995991|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:28492532|PMID:28837624 12336666 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1345791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:15140536|PMID:17967976|PMID:19606473|PMID:19815826|PMID:22995991|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:28492532|PMID:28837624 12336666 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:12930 dilated cardiomyopathy ISO RGD:1345791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 12336666 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:2843 long QT syndrome ISO RGD:1345791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:15140536|PMID:17967976|PMID:19606473|PMID:19815826|PMID:22995991|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:28492532|PMID:28837624 12336666 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1345791 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532 12336666 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:5419 schizophrenia ISO RGD:1345791 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12336666 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:630 genetic disease ISO RGD:1345791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12336666 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1345791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:11839626|PMID:15140536|PMID:16199547|PMID:17967976|PMID:17967977|PMID:19606473|PMID:19666841|PMID:19745168|PMID:19815826|PMID:20724705|PMID:22584458|PMID:22995991|PMID:23414114|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:26743238|PMID:27435932|PMID:27930701|PMID:28008009|PMID:28492532|PMID:28798025|PMID:28837624|PMID:29077258|PMID:29247119|PMID:29714131|PMID:30662450|PMID:30847666|PMID:31043699|PMID:31618753|PMID:31980526|PMID:32695137 12336666 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:9006030 Infant Death ISO RGD:1345791 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Death in infancy PMID:11839626|PMID:17967977|PMID:19666841|PMID:19745168|PMID:20724705|PMID:22995991|PMID:23414114|PMID:24033266|PMID:25741868|PMID:26743238|PMID:27435932|PMID:28008009|PMID:28492532|PMID:28798025|PMID:31618753|PMID:32695137 12336666 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:9007 sudden infant death syndrome ISO RGD:1345791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:15140536|PMID:17967976|PMID:19606473|PMID:19815826|PMID:22995991|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:28492532|PMID:28837624 12336666 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:9007925 Sudden Cardiac Death ISO RGD:1345791 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:23861362|PMID:25741868|PMID:27930701|PMID:28492532 12336666 GPD1L glycerol-3-phosphate dehydrogenase 1 like gene DOID:9452 fatty liver disease ISO RGD:1345791 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:20890277|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:0050451 Brugada syndrome ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:0050650 familial atrial fibrillation ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation PMID:24033266|PMID:25741868|PMID:28492532 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:0050700 cardiomyopathy ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12166651|PMID:16563363|PMID:17245405|PMID:17576681|PMID:18239147|PMID:20474083|PMID:21846889|PMID:23103869|PMID:23739550|PMID:23861362|PMID:24033266|PMID:24439875|PMID:24503780|PMID:25333069|PMID:25741868|PMID:26636822|PMID:26656175|PMID:26764160|PMID:28087566|PMID:28166811|PMID:28492532|PMID:29030401|PMID:9536098 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:0050700 cardiomyopathy ISO RGD:735726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12166651|PMID:16563363|PMID:17245405|PMID:17576681|PMID:18239147|PMID:20474083|PMID:21846889|PMID:23103869|PMID:23739550|PMID:23861362|PMID:24033266|PMID:24439875|PMID:24503780|PMID:25333069|PMID:25741868|PMID:25979592|PMID:26498160|PMID:26636822|PMID:26656175|PMID:26764160|PMID:28087566|PMID:28166811|PMID:28492532|PMID:29030401|PMID:32746448|PMID:9536098 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:735726 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:21344641|PMID:22610116|PMID:23307537|PMID:25590979|PMID:25741868|PMID:27247394|PMID:27316244|PMID:28492532 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type ISO RGD:735726 D RGD:7240710 20180130 OMIM 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type ISO RGD:735726 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type PMID:10398267|PMID:15034580|PMID:16199547|PMID:16835932|PMID:17576681|PMID:18414213|PMID:20474083|PMID:20890277|PMID:21344641|PMID:22608503|PMID:22610116|PMID:23307537|PMID:23861362|PMID:24033266|PMID:24352916|PMID:24439875|PMID:24503780|PMID:25326635|PMID:25590979|PMID:25741868|PMID:25790160|PMID:25979592|PMID:26112015|PMID:26498160|PMID:26656175|PMID:26871653|PMID:26938784|PMID:27247394|PMID:27316244|PMID:27532257|PMID:27707468|PMID:28492532|PMID:29016939|PMID:30177324|PMID:30662450|PMID:30821013|PMID:30847666|PMID:31130284|PMID:31828977|PMID:31907964|PMID:31983221|PMID:32622958|PMID:32746448|PMID:33500567|PMID:9536098 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:0080855 Parkinsonism ISO RGD:3787 D RGD:9068941 20200609 RGD PMID:15857625|REF_RGD_ID:1598645 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:24033266|PMID:24439875|PMID:25741868|PMID:27532257|PMID:28492532 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:28492532 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:735726 D RGD:7240710 20180130 OMIM 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:735726 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA | ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:12166651|PMID:15034580|PMID:1575858|PMID:16199547|PMID:16563363|PMID:16835932|PMID:17245405|PMID:17576681|PMID:18239147|PMID:19763152|PMID:20307669|PMID:20474083|PMID:20890277|PMID:21344641|PMID:21846889|PMID:22406018|PMID:22608503|PMID:22610116|PMID:23103869|PMID:23307537|PMID:23739550|PMID:23861362|PMID:24033266|PMID:24352916|PMID:24439875|PMID:24503780|PMID:25326635|PMID:25333069|PMID:25341504|PMID:25590979|PMID:25741868|PMID:25790160|PMID:25979592|PMID:26112015|PMID:26498160|PMID:26636822|PMID:26656175|PMID:26764160|PMID:26871653|PMID:27101133|PMID:27247394|PMID:27316244|PMID:27532257|PMID:27707468|PMID:28087566|PMID:28166811|PMID:28492532|PMID:28798025|PMID:29016939|PMID:29030401|PMID:29275331|PMID:30029678|PMID:30177324|PMID:30269836|PMID:30662066|PMID:30662450|PMID:30821013|PMID:30847666|PMID:30878466|PMID:30975432|PMID:31130284|PMID:31575858|PMID:31828977|PMID:31907964|PMID:31983221|PMID:32344918|PMID:32622958|PMID:32746448|PMID:32969603|PMID:33500567|PMID:9536098 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:10763 hypertension ISO RGD:3787 D RGD:9068941 20200609 RGD PMID:15964031|REF_RGD_ID:1598644 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:10763 hypertension ISO RGD:3787 D RGD:9068941 20200609 RGD protein:decreased expression:aorta PMID:18471810|REF_RGD_ID:2301909 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:11446 sciatic neuropathy ISO RGD:3787 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:21907492|REF_RGD_ID:12791994 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17245405|PMID:25741868|PMID:28492532 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:12930 dilated cardiomyopathy ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12166651|PMID:20474083|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:735726 D RGD:9068941 20200609 RGD PMID:15034580|REF_RGD_ID:1300328 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:13832 patent ductus arteriosus ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Patency of the ductus arteriosus PMID:22608503|PMID:22610116|PMID:23307537|PMID:25741868|PMID:25790160|PMID:26656175|PMID:26871653|PMID:28492532 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:2843 long QT syndrome ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prolonged QT interval 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:289 endometriosis ISO RGD:735726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:3007 breast ductal carcinoma ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:5844 myocardial infarction ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction PMID:16563363|PMID:18239147|PMID:20474083|PMID:21846889|PMID:23739550|PMID:23861362|PMID:24033266|PMID:24439875|PMID:25333069|PMID:25741868|PMID:26636822|PMID:26656175|PMID:26764160|PMID:28492532 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:630 genetic disease ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31828977 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:9000176 INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME ISO RGD:735726 D RGD:7240710 20220323 OMIM 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:9000176 INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME ISO RGD:735726 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Intellectual disability and myopathy syndrome PMID:1575858|PMID:17576681|PMID:24033266|PMID:24439875|PMID:25741868|PMID:26112015|PMID:28492532|PMID:29016939|PMID:30177324|PMID:30662450|PMID:30821013|PMID:31130284|PMID:31575858|PMID:32622958|PMID:33500567|PMID:9536098 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:9000184 Ventricular Fibrillation ISO RGD:3787 D RGD:9068941 20200609 RGD PMID:15115899|REF_RGD_ID:1598647 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:735726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:28492532 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:9002065 Familial Atrial Fibrillation 12 ISO RGD:735726 D RGD:7240710 20180130 OMIM 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:9002065 Familial Atrial Fibrillation 12 ISO RGD:735726 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 12 PMID:17245405|PMID:17576681|PMID:24033266|PMID:24439875|PMID:25741868|PMID:26112015|PMID:28492532|PMID:29016939|PMID:30177324|PMID:30662450|PMID:30821013|PMID:31130284|PMID:32622958|PMID:33500567|PMID:9536098 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:9003163 Heart Block ISO RGD:735726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:28492532 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:9003816 Macrocephaly ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:22608503|PMID:22610116|PMID:23307537|PMID:25741868|PMID:25790160|PMID:26656175|PMID:26871653|PMID:28492532 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:22608503|PMID:22610116|PMID:23307537|PMID:25741868|PMID:25790160|PMID:26656175|PMID:26871653|PMID:28492532 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:9005077 Joint Instability ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:22608503|PMID:22610116|PMID:23307537|PMID:25741868|PMID:25790160|PMID:26656175|PMID:26871653|PMID:28492532 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:9005141 Ventricular Tachycardia ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:16563363|PMID:18239147|PMID:20474083|PMID:21846889|PMID:23739550|PMID:23861362|PMID:24033266|PMID:24439875|PMID:25333069|PMID:25741868|PMID:26636822|PMID:26656175|PMID:26764160|PMID:28492532 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:9005616 Micrognathism ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:22608503|PMID:22610116|PMID:23307537|PMID:25741868|PMID:25790160|PMID:26656175|PMID:26871653|PMID:28492532 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3787 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart PMID:22257425|REF_RGD_ID:12792003 12336678 ABCC9 ATP binding cassette subfamily C member 9 gene DOID:9007715 Endometrial Neoplasms ISO RGD:735726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 12336733 GPRC5A G protein-coupled receptor class C group 5 member A gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1603705 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12336733 GPRC5A G protein-coupled receptor class C group 5 member A gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1603705 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12336733 GPRC5A G protein-coupled receptor class C group 5 member A gene DOID:630 genetic disease ISO RGD:1603705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336733 GPRC5A G protein-coupled receptor class C group 5 member A gene DOID:7148 rheumatoid arthritis ISO RGD:1603705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 12336741 PML PML nuclear body scaffold gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1345145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 12336741 PML PML nuclear body scaffold gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1345145 D RGD:9068941 20210205 RGD human PML/RARA gene fusion in a mouse model PMID:9122233|REF_RGD_ID:41404695 12336741 PML PML nuclear body scaffold gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1345145 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:10742073|PMID:14706140|PMID:16788101|PMID:16835227|PMID:16891316|PMID:16935935|PMID:17294898|PMID:17649720|PMID:19029980|PMID:19035177|PMID:19884644|PMID:19887701|PMID:21345080|PMID:21613260|PMID:22213200|PMID:23208507|PMID:23734343|PMID:26285909|PMID:26728337|PMID:32882258|PMID:32929351|PMID:8616088 12336741 PML PML nuclear body scaffold gene DOID:10591 pre-eclampsia ISO RGD:1345145 D RGD:9068941 20210205 RGD mRNA:decreased expression:placenta (human) PMID:20228380|REF_RGD_ID:41404689 12336741 PML PML nuclear body scaffold gene DOID:1324 lung cancer ameliorates ISO RGD:1557220 D RGD:9068941 20210205 RGD PMID:25486572|REF_RGD_ID:41404692 12336741 PML PML nuclear body scaffold gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1345145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12336741 PML PML nuclear body scaffold gene DOID:2717 Bloom syndrome ISO RGD:1345145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12336741 PML PML nuclear body scaffold gene DOID:3007 breast ductal carcinoma ISO RGD:1345145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12336741 PML PML nuclear body scaffold gene DOID:3068 glioblastoma ISO RGD:1345145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23440206 12336741 PML PML nuclear body scaffold gene DOID:4159 skin cancer severity ISO RGD:1345145 D RGD:9068941 20210205 RGD human gene in a mouse model PMID:19058256|REF_RGD_ID:41404688 12336741 PML PML nuclear body scaffold gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1345145 D RGD:9068941 20210205 RGD protein:decreased expression:kidney (human) PMID:25293974|REF_RGD_ID:41404694 12336741 PML PML nuclear body scaffold gene DOID:5408 Paget's disease of bone ISO RGD:1345145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21623375 12336741 PML PML nuclear body scaffold gene DOID:5419 schizophrenia ISO RGD:1345145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12336741 PML PML nuclear body scaffold gene DOID:630 genetic disease ISO RGD:1345145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336741 PML PML nuclear body scaffold gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1557220 D RGD:9068941 20210205 RGD mRNA:increased expression:liver (mouse) PMID:26118777|REF_RGD_ID:41404690 12336741 PML PML nuclear body scaffold gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1345145 D RGD:9068941 20210205 RGD protein:increased expression:liver (human) PMID:11511788|REF_RGD_ID:41404685 12336741 PML PML nuclear body scaffold gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1557220 D RGD:9068941 20210205 RGD associated with hepatitis C PMID:31144474|REF_RGD_ID:41404687 12336741 PML PML nuclear body scaffold gene DOID:9000645 Rotavirus Infections ISO RGD:1345145 D RGD:9068941 20210205 RGD associated with gastroenteritis;mRNA:decreased expression:blood (human) PMID:31677607|REF_RGD_ID:41404693 12336741 PML PML nuclear body scaffold gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29335545 12336741 PML PML nuclear body scaffold gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1345145 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20377131 12336741 PML PML nuclear body scaffold gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29335545 12336741 PML PML nuclear body scaffold gene DOID:9003370 Dyslipidemias ISO RGD:1345145 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 12336741 PML PML nuclear body scaffold gene DOID:9005715 Neoplasms, Second Primary ISO RGD:1345145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19884644 12336741 PML PML nuclear body scaffold gene DOID:9256 colorectal cancer ISO RGD:1345145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12336741 PML PML nuclear body scaffold gene DOID:9538 multiple myeloma severity ISO RGD:1345145 D RGD:9068941 20210205 RGD protein:increased expression:bone marrow (human) PMID:22906876|REF_RGD_ID:41404686 12336774 TRAM1L1 translocation associated membrane protein 1 like 1 gene DOID:630 genetic disease ISO RGD:1314990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336774 TRAM1L1 translocation associated membrane protein 1 like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12336788 GALNT5 polypeptide N-acetylgalactosaminyltransferase 5 gene DOID:0060041 autism spectrum disorder ISO RGD:737016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12336788 GALNT5 polypeptide N-acetylgalactosaminyltransferase 5 gene DOID:630 genetic disease ISO RGD:737016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336801 AFAP1 actin filament associated protein 1 gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:1605642 D RGD:9068941 20200609 RGD DNA:SNPs: :rs4619890,rs4478172(human) PMID:25173105|REF_RGD_ID:13673886 12336801 AFAP1 actin filament associated protein 1 gene DOID:630 genetic disease ISO RGD:1605642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336846 NKX6-3 NK6 homeobox 3 gene DOID:630 genetic disease ISO RGD:1605569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336853 AP5Z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:0110800 hereditary spastic paraplegia 48 ISO RGD:1626268 D RGD:7240710 20180130 OMIM 12336853 AP5Z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:0110800 hereditary spastic paraplegia 48 ISO RGD:1626268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 48 PMID:16199547|PMID:17576681|PMID:20613862|PMID:24033266|PMID:24482476|PMID:24833714|PMID:24926664|PMID:25333062|PMID:25741868|PMID:26085577|PMID:26467025|PMID:27165006|PMID:27606357|PMID:28492532|PMID:28832565|PMID:29908077|PMID:30564185|PMID:31289639|PMID:31673878|PMID:31785789|PMID:32655478|PMID:32860008|PMID:32989326|PMID:9536098 12336853 AP5Z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:11372 megacolon ISO RGD:1626268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12336853 AP5Z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1626268 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:17576681|PMID:20613862|PMID:24033266|PMID:24833714|PMID:24926664|PMID:25333062|PMID:25741868|PMID:26467025|PMID:27606357|PMID:28492532|PMID:28832565|PMID:9536098 12336853 AP5Z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:607 paraplegia ISO RGD:1626268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12336853 AP5Z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:630 genetic disease ISO RGD:1626268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12336853 AP5Z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:9002189 High Myopia ISO RGD:1626268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532 12336885 DYNLT5 dynein light chain Tctex-type family member 5 gene DOID:1059 intellectual disability ISO RGD:1603544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12336885 DYNLT5 dynein light chain Tctex-type family member 5 gene DOID:630 genetic disease ISO RGD:1603544 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336899 CRHBP corticotropin releasing hormone binding protein gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:730851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 12336899 CRHBP corticotropin releasing hormone binding protein gene DOID:1596 depressive disorder ISO RGD:2403 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, frontal cortex (rat) PMID:19631474|REF_RGD_ID:5508785 12336899 CRHBP corticotropin releasing hormone binding protein gene DOID:1596 depressive disorder ISO RGD:730851 D RGD:9068941 20200609 RGD DNA:snps:intron, 3' utr:g.10661T>C, g.16113T>C (human) PMID:14573312|REF_RGD_ID:1358530 12336899 CRHBP corticotropin releasing hormone binding protein gene DOID:3328 temporal lobe epilepsy ISO RGD:2403 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus (rat) PMID:9037416|REF_RGD_ID:5508845 12336899 CRHBP corticotropin releasing hormone binding protein gene DOID:630 genetic disease ISO RGD:730851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336899 CRHBP corticotropin releasing hormone binding protein gene DOID:684 hepatocellular carcinoma ISO RGD:730851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12336899 CRHBP corticotropin releasing hormone binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12336899 CRHBP corticotropin releasing hormone binding protein gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17437087 12336899 CRHBP corticotropin releasing hormone binding protein gene DOID:9970 obesity ISO RGD:2403 D RGD:9068941 20200609 RGD mRNA:decreased expression:anterior pituitary gland (rat) PMID:10600923|REF_RGD_ID:5508840 12336914 KCND1 potassium voltage-gated channel subfamily D member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12336914 KCND1 potassium voltage-gated channel subfamily D member 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12336914 KCND1 potassium voltage-gated channel subfamily D member 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12336914 KCND1 potassium voltage-gated channel subfamily D member 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12336914 KCND1 potassium voltage-gated channel subfamily D member 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12336914 KCND1 potassium voltage-gated channel subfamily D member 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12336914 KCND1 potassium voltage-gated channel subfamily D member 1 gene DOID:12849 autistic disorder ISO RGD:1347714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12336914 KCND1 potassium voltage-gated channel subfamily D member 1 gene DOID:630 genetic disease ISO RGD:1347714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336914 KCND1 potassium voltage-gated channel subfamily D member 1 gene DOID:9007661 Dwarfism ISO RGD:1347714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12336938 UBL4B ubiquitin like 4B gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1602973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 12336938 UBL4B ubiquitin like 4B gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1602973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12336938 UBL4B ubiquitin like 4B gene DOID:12849 autistic disorder ISO RGD:1602973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12336938 UBL4B ubiquitin like 4B gene DOID:630 genetic disease ISO RGD:1602973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336943 ZNF329 zinc finger protein 329 gene DOID:630 genetic disease ISO RGD:1348045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336953 NANOG Nanog homeobox gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1347686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12336953 NANOG Nanog homeobox gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1347686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12336953 NANOG Nanog homeobox gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1347686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12336953 NANOG Nanog homeobox gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1347686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12336953 NANOG Nanog homeobox gene DOID:0111621 Temtamy syndrome ISO RGD:1347686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12336953 NANOG Nanog homeobox gene DOID:14330 Parkinson's disease treatment ISO RGD:1553059 D RGD:9068941 20200609 RGD mouse gene in a rat model;mRNA, protein:increased expression:embryonic stem cell PMID:24954161|REF_RGD_ID:9681444 12336953 NANOG Nanog homeobox gene DOID:219 colon cancer treatment ISO RGD:1303178 D RGD:9068941 20200609 RGD PMID:22641368|REF_RGD_ID:7240527 12336953 NANOG Nanog homeobox gene DOID:3307 teratoma severity ISO RGD:1553059 D RGD:9068941 20200609 RGD mouse gene in a rat Myocardial Infarction model;protein:decreased expression:embryonic stem cell PMID:20817694|REF_RGD_ID:9681441 12336953 NANOG Nanog homeobox gene DOID:630 genetic disease ISO RGD:1347686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12336953 NANOG Nanog homeobox gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1347686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 12336953 NANOG Nanog homeobox gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1347686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29626521 12336953 NANOG Nanog homeobox gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1347686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12336959 MIR27A microRNA mir-27a gene DOID:11054 urinary bladder cancer ISO RGD:1345708 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 12336959 MIR27A microRNA mir-27a gene DOID:1852 intrahepatic cholestasis ISO RGD:1607666 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (mouse) PMID:25226451|REF_RGD_ID:14695552 12336959 MIR27A microRNA mir-27a gene DOID:4989 pancreatitis ISO RGD:1345708 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12336959 MIR27A microRNA mir-27a gene DOID:6000 congestive heart failure ISO RGD:2325592 D RGD:9068941 20200609 RGD RNA:increased expression:heart PMID:29373037|REF_RGD_ID:26923905 12336959 MIR27A microRNA mir-27a gene DOID:684 hepatocellular carcinoma severity ISO RGD:1345708 D RGD:9068941 20200609 RGD human cell line in a mouse model PMID:29143999|REF_RGD_ID:14696659 12336959 MIR27A microRNA mir-27a gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1345708 D RGD:9068941 20200609 RGD human miRNA and cell line in a mouse model PMID:30083261|REF_RGD_ID:14696660 12336959 MIR27A microRNA mir-27a gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1345708 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12336959 MIR27A microRNA mir-27a gene DOID:9256 colorectal cancer ISO RGD:1345708 D RGD:9068941 20220805 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12336959 MIR27A microRNA mir-27a gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345708 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12336959 MIR27A microRNA mir-27a gene DOID:9538 multiple myeloma ISO RGD:1345708 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038059 12337024 C1H19orf84 chromosome 1 C19orf84 homolog gene DOID:0080600 COVID-19 ISO RGD:7778770 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12337024 C1H19orf84 chromosome 1 C19orf84 homolog gene DOID:630 genetic disease ISO RGD:7778770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12337042 DUOX1 dual oxidase 1 gene DOID:0050712 AGAT deficiency ISO RGD:1345114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 12337042 DUOX1 dual oxidase 1 gene DOID:2717 Bloom syndrome ISO RGD:1345114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12337042 DUOX1 dual oxidase 1 gene DOID:630 genetic disease ISO RGD:1345114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12337042 DUOX1 dual oxidase 1 gene DOID:9000371 influenza A ISO RGD:1345114 D RGD:9068941 20210122 RGD protein:decreased expression:blood plasma (human) PMID:24888898|REF_RGD_ID:40903071 12337042 DUOX1 dual oxidase 1 gene DOID:9256 colorectal cancer ISO RGD:1345114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12337094 FGF12 fibroblast growth factor 12 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1348702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early onset epileptic encephalopathy PMID:25741868|PMID:27164707|PMID:27830185|PMID:27872899|PMID:28135719|PMID:28492532|PMID:28506426|PMID:28554332|PMID:28991257|PMID:29100083|PMID:29652076|PMID:29699863 12337094 FGF12 fibroblast growth factor 12 gene DOID:0080425 developmental and epileptic encephalopathy 47 ISO RGD:1348702 D RGD:7240710 20190315 OMIM 12337094 FGF12 fibroblast growth factor 12 gene DOID:0080425 developmental and epileptic encephalopathy 47 ISO RGD:1348702 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 47 PMID:17576681|PMID:25741868|PMID:27164707|PMID:27830185|PMID:27872899|PMID:28135719|PMID:28492532|PMID:28506426|PMID:28554332|PMID:28991257|PMID:29100083|PMID:29652076|PMID:29699863|PMID:31292943|PMID:32645220|PMID:9536098 12337094 FGF12 fibroblast growth factor 12 gene DOID:1826 epilepsy ISO RGD:1348702 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:27164707|PMID:27830185|PMID:27872899|PMID:28135719|PMID:28492532|PMID:28506426|PMID:28554332|PMID:28991257|PMID:29100083|PMID:29652076|PMID:29699863 12337094 FGF12 fibroblast growth factor 12 gene DOID:5419 schizophrenia ISO RGD:1348702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12337094 FGF12 fibroblast growth factor 12 gene DOID:630 genetic disease ISO RGD:1348702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12337094 FGF12 fibroblast growth factor 12 gene DOID:9005369 Hepatomegaly ISO RGD:1348702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12337111 RIMS1 regulating synaptic membrane exocytosis 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:731818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant PMID:28492532 12337111 RIMS1 regulating synaptic membrane exocytosis 1 gene DOID:0060041 autism spectrum disorder ISO RGD:731818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12337111 RIMS1 regulating synaptic membrane exocytosis 1 gene DOID:0111012 cone-rod dystrophy 7 ISO RGD:731818 D RGD:7240710 20180130 OMIM 12337111 RIMS1 regulating synaptic membrane exocytosis 1 gene DOID:0111012 cone-rod dystrophy 7 ISO RGD:731818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 7 PMID:12659814|PMID:18690027|PMID:23591405|PMID:25741868|PMID:27176872|PMID:28191889|PMID:28492532|PMID:9634506 12337111 RIMS1 regulating synaptic membrane exocytosis 1 gene DOID:10584 retinitis pigmentosa ISO RGD:731818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 12337111 RIMS1 regulating synaptic membrane exocytosis 1 gene DOID:12849 autistic disorder ISO RGD:731818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25961944 12337111 RIMS1 regulating synaptic membrane exocytosis 1 gene DOID:1415 gyrate atrophy ISO RGD:731818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine aminotransferase deficiency PMID:25741868 12337111 RIMS1 regulating synaptic membrane exocytosis 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:731818 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:28492532 12337111 RIMS1 regulating synaptic membrane exocytosis 1 gene DOID:2843 long QT syndrome ISO RGD:731818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12337111 RIMS1 regulating synaptic membrane exocytosis 1 gene DOID:3312 bipolar disorder ISO RGD:731818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12337111 RIMS1 regulating synaptic membrane exocytosis 1 gene DOID:3659 sialuria ISO RGD:731818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 12337111 RIMS1 regulating synaptic membrane exocytosis 1 gene DOID:630 genetic disease ISO RGD:731818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12337111 RIMS1 regulating synaptic membrane exocytosis 1 gene DOID:8501 fundus dystrophy ISO RGD:731818 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12659814|PMID:18690027|PMID:25741868|PMID:27176872|PMID:28492532|PMID:9634506 12337111 RIMS1 regulating synaptic membrane exocytosis 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12337179 ZNF697 zinc finger protein 697 gene DOID:0050722 PHGDH deficiency ISO RGD:1603938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:14645240|PMID:24836451|PMID:28492532 12337179 ZNF697 zinc finger protein 697 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1603938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 12337179 ZNF697 zinc finger protein 697 gene DOID:630 genetic disease ISO RGD:1603938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12337199 SPHK2 sphingosine kinase 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:1317131 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23043544 12337199 SPHK2 sphingosine kinase 2 gene DOID:630 genetic disease ISO RGD:1317131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12337199 SPHK2 sphingosine kinase 2 gene DOID:9008023 Memory Disorders ISO RGD:1317131 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859201 12337226 SEMA3F semaphorin 3F gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12337226 SEMA3F semaphorin 3F gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1318327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 12337226 SEMA3F semaphorin 3F gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12337226 SEMA3F semaphorin 3F gene DOID:1921 Klinefelter syndrome ISO RGD:1318327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 12337226 SEMA3F semaphorin 3F gene DOID:630 genetic disease ISO RGD:1318327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12337226 SEMA3F semaphorin 3F gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1318327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12337226 SEMA3F semaphorin 3F gene DOID:9004538 Hearing Loss ISO RGD:1318327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 12337226 SEMA3F semaphorin 3F gene DOID:9007715 Endometrial Neoplasms ISO RGD:1318327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21933904 12337226 SEMA3F semaphorin 3F gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12337250 MAN2B1 mannosidase alpha class 2B member 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1348586 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12337250 MAN2B1 mannosidase alpha class 2B member 1 gene DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ISO RGD:1348586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 12337250 MAN2B1 mannosidase alpha class 2B member 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1348586 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12337250 MAN2B1 mannosidase alpha class 2B member 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1348586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12337250 MAN2B1 mannosidase alpha class 2B member 1 gene DOID:1059 intellectual disability ISO RGD:1348586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12337250 MAN2B1 mannosidase alpha class 2B member 1 gene DOID:2661 myoepithelioma ISO RGD:1348586 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12337250 MAN2B1 mannosidase alpha class 2B member 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1348586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 12337250 MAN2B1 mannosidase alpha class 2B member 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1348586 D RGD:7240710 20180130 OMIM 12337250 MAN2B1 mannosidase alpha class 2B member 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1348586 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:10071201|PMID:11959458|PMID:12634058|PMID:1472354|PMID:14765545|PMID:15035660|PMID:15712269|PMID:16199547|PMID:16919251|PMID:17404523|PMID:17576681|PMID:17979865|PMID:18414213|PMID:19958498|PMID:20165920|PMID:20301570|PMID:21505070|PMID:22161967|PMID:22700954|PMID:23613340|PMID:24033266|PMID:24353136|PMID:24767253|PMID:25640679|PMID:25741868|PMID:25762455|PMID:26048034|PMID:26633542|PMID:26633546|PMID:26817023|PMID:27959697|PMID:28492532|PMID:28559085|PMID:29859105|PMID:30548430|PMID:31241255|PMID:32331969|PMID:32860008|PMID:34614013|PMID:4358183|PMID:724292|PMID:9158146|PMID:9370301|PMID:9536098|PMID:9758606|PMID:9915946 12337250 MAN2B1 mannosidase alpha class 2B member 1 gene DOID:630 genetic disease ISO RGD:1348586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15035660|PMID:16199547|PMID:17576681|PMID:19958498|PMID:20301570|PMID:21505070|PMID:22161967|PMID:23613340|PMID:24033266|PMID:25741868|PMID:25762455|PMID:26048034|PMID:28492532|PMID:29859105|PMID:30548430|PMID:31241255|PMID:9536098|PMID:9758606|PMID:9915946 12337250 MAN2B1 mannosidase alpha class 2B member 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1348586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868 12337300 SOX5 SRY-box transcription factor 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1603322 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12337300 SOX5 SRY-box transcription factor 5 gene DOID:0060224 atrial fibrillation ISO RGD:1603322 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062060 12337300 SOX5 SRY-box transcription factor 5 gene DOID:0070073 autosomal dominant intellectual developmental disorder 43 ISO RGD:1603322 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 43 PMID:25741868 12337300 SOX5 SRY-box transcription factor 5 gene DOID:1059 intellectual disability ISO RGD:1603322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28708303 12337300 SOX5 SRY-box transcription factor 5 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:1603322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tourette syndrome 12337300 SOX5 SRY-box transcription factor 5 gene DOID:540 strabismus ISO RGD:1603322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868 12337300 SOX5 SRY-box transcription factor 5 gene DOID:630 genetic disease ISO RGD:1603322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:31578471 12337300 SOX5 SRY-box transcription factor 5 gene DOID:9002383 Lamb-Shaffer Syndrome ISO RGD:1603322 D RGD:7240710 20190315 OMIM 12337300 SOX5 SRY-box transcription factor 5 gene DOID:9002383 Lamb-Shaffer Syndrome ISO RGD:1603322 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lamb-Shaffer syndrome PMID:22290657|PMID:23220431|PMID:23498568|PMID:25741868|PMID:26111154|PMID:28708303|PMID:31578471|PMID:32165824 12337300 SOX5 SRY-box transcription factor 5 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1603322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 12337300 SOX5 SRY-box transcription factor 5 gene DOID:9005603 Muscle Hypotonia ISO RGD:1603322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868 12337300 SOX5 SRY-box transcription factor 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1603322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12337300 SOX5 SRY-box transcription factor 5 gene DOID:9008582 Developmental Disease ISO RGD:1603322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12337358 CA13 carbonic anhydrase 13 gene DOID:630 genetic disease ISO RGD:1322168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12337374 GRIK1 glutamate ionotropic receptor kainate type subunit 1 gene DOID:1824 status epilepticus ISO RGD:2732 D RGD:9068941 20200609 RGD PMID:12724156|REF_RGD_ID:1642496 12337374 GRIK1 glutamate ionotropic receptor kainate type subunit 1 gene DOID:1825 childhood absence epilepsy ISO RGD:731546 D RGD:9068941 20200609 RGD PMID:9259378|REF_RGD_ID:1358334 12337374 GRIK1 glutamate ionotropic receptor kainate type subunit 1 gene DOID:5419 schizophrenia no_association ISO RGD:731546 D RGD:9068941 20200609 RGD DNA:SNPs:three known and three novel:Japanese population PMID:11702055|REF_RGD_ID:1642476 12337374 GRIK1 glutamate ionotropic receptor kainate type subunit 1 gene DOID:630 genetic disease ISO RGD:731546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12337403 ZFHX3 zinc finger homeobox 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1319399 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12337403 ZFHX3 zinc finger homeobox 3 gene DOID:0060224 atrial fibrillation ISO RGD:1319399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19597491|PMID:19597492|PMID:22544366|PMID:29892015|PMID:30061737 12337403 ZFHX3 zinc finger homeobox 3 gene DOID:10283 prostate cancer ISO RGD:1319399 D RGD:7240710 20180418 OMIM 12337403 ZFHX3 zinc finger homeobox 3 gene DOID:10283 prostate cancer susceptibility ISO RGD:1319399 D RGD:9068941 20200609 RGD DNA, mRNA:mutations, decreased expression: :multiple, prostate gland (human) PMID:15750593|REF_RGD_ID:2315695 12337403 ZFHX3 zinc finger homeobox 3 gene DOID:10283 prostate cancer susceptibility ISO RGD:1319399 D RGD:9068941 20200609 RGD DNA:deletion (human) PMID:16637072|REF_RGD_ID:2315694 12337403 ZFHX3 zinc finger homeobox 3 gene DOID:1324 lung cancer ISO RGD:1319399 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12337403 ZFHX3 zinc finger homeobox 3 gene DOID:1612 breast cancer exacerbates ISO RGD:1319399 D RGD:9068941 20220303 RGD mRNA:decreased expression:breast (human) PMID:33217982|REF_RGD_ID:151361167 12337403 ZFHX3 zinc finger homeobox 3 gene DOID:2048 autoimmune hepatitis ISO RGD:1319399 D RGD:9068941 20220303 RGD protein:increased expression:blood serum (human) PMID:20534899|REF_RGD_ID:151361169 12337403 ZFHX3 zinc finger homeobox 3 gene DOID:3030 mucinous adenocarcinoma ISO RGD:1319399 D RGD:9068941 20220303 RGD protein:increased expression:colon, nucleus, cytoplasm (human) PMID:28713972|REF_RGD_ID:151361166 12337403 ZFHX3 zinc finger homeobox 3 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1319399 D RGD:9068941 20200609 RGD PMID:15671546|REF_RGD_ID:2315696 12337403 ZFHX3 zinc finger homeobox 3 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1319399 D RGD:9068941 20220303 RGD DNA:mutations:multiple (human) PMID:32653938|REF_RGD_ID:151361163 12337403 ZFHX3 zinc finger homeobox 3 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1319399 D RGD:9068941 20220303 RGD mRNA:decreased expression:lung (human) PMID:23144151|REF_RGD_ID:151361164 12337403 ZFHX3 zinc finger homeobox 3 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1319399 D RGD:9068941 20220303 RGD DNA:mutations:multiple (human) PMID:32653938|REF_RGD_ID:151361163 12337403 ZFHX3 zinc finger homeobox 3 gene DOID:4362 cervical cancer ISO RGD:1319399 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:11812077|REF_RGD_ID:2315697 12337403 ZFHX3 zinc finger homeobox 3 gene DOID:4929 tubular adenocarcinoma exacerbates ISO RGD:1319399 D RGD:9068941 20220303 RGD protein:increased expression:colon, nucleus, cytoplasm (human) PMID:28713972|REF_RGD_ID:151361166 12337403 ZFHX3 zinc finger homeobox 3 gene DOID:630 genetic disease ISO RGD:1319399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12337403 ZFHX3 zinc finger homeobox 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1319399 D RGD:9068941 20220303 RGD associated with Chronic Hepatitis B;protein:decreased expression:blood serum (human) PMID:20534899|REF_RGD_ID:151361169 12337403 ZFHX3 zinc finger homeobox 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1319399 D RGD:9068941 20220303 RGD human cell line in a mouse model PMID:32277050|REF_RGD_ID:151361162 12337403 ZFHX3 zinc finger homeobox 3 gene DOID:687 hepatoblastoma ISO RGD:1319399 D RGD:9068941 20220303 RGD protein:increased expression:liver (human) PMID:33368532|REF_RGD_ID:151361168 12337403 ZFHX3 zinc finger homeobox 3 gene DOID:9000466 Prostate Cancer, Somatic ISO RGD:1319399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer, somatic PMID:15750593 12337403 ZFHX3 zinc finger homeobox 3 gene DOID:9000965 Neoplasm Metastasis exacerbates ISO RGD:1319399 D RGD:9068941 20220303 RGD brain metastasis associated with lung adenocarcinoma;DNA:mutations:multiple (human) PMID:33479213|REF_RGD_ID:151361170 12337403 ZFHX3 zinc finger homeobox 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16637072|PMID:17013881|PMID:29610475 12337403 ZFHX3 zinc finger homeobox 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319399 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30559488 12337403 ZFHX3 zinc finger homeobox 3 gene DOID:9007096 Stroke ISO RGD:1319399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 12337403 ZFHX3 zinc finger homeobox 3 gene DOID:9007661 Dwarfism ISO RGD:1319399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12337403 ZFHX3 zinc finger homeobox 3 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1319399 D RGD:9068941 20220303 RGD protein:increased expression:blood serum (human) PMID:20534899|REF_RGD_ID:151361169 12337403 ZFHX3 zinc finger homeobox 3 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1319399 D RGD:9068941 20220303 RGD mRNA, protein:increased expression:colorectum (human) PMID:27435776|REF_RGD_ID:151361165 12337403 ZFHX3 zinc finger homeobox 3 gene DOID:9970 obesity ISO RGD:1319399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 12337443 CALN1 calneuron 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12337443 CALN1 calneuron 1 gene DOID:630 genetic disease ISO RGD:1314120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12337443 CALN1 calneuron 1 gene DOID:9005747 Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability ISO RGD:1314120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability PMID:23332918 12337470 EIF4H eukaryotic translation initiation factor 4H gene DOID:0060041 autism spectrum disorder ISO RGD:1347903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12337470 EIF4H eukaryotic translation initiation factor 4H gene DOID:10923 sickle cell anemia ISO RGD:1347903 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12337470 EIF4H eukaryotic translation initiation factor 4H gene DOID:12849 autistic disorder ISO RGD:1347903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12337470 EIF4H eukaryotic translation initiation factor 4H gene DOID:1928 Williams-Beuren syndrome ISO RGD:1347903 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 12337470 EIF4H eukaryotic translation initiation factor 4H gene DOID:1929 supravalvular aortic stenosis ISO RGD:1347903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740 12337470 EIF4H eukaryotic translation initiation factor 4H gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12337470 EIF4H eukaryotic translation initiation factor 4H gene DOID:5419 schizophrenia ISO RGD:1347903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12337470 EIF4H eukaryotic translation initiation factor 4H gene DOID:630 genetic disease ISO RGD:1347903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12337470 EIF4H eukaryotic translation initiation factor 4H gene DOID:8445 intestinal volvulus ISO RGD:1347903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12337470 EIF4H eukaryotic translation initiation factor 4H gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12337470 EIF4H eukaryotic translation initiation factor 4H gene DOID:9008419 Volvulus Of Midgut ISO RGD:1347903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12337480 VSX1 visual system homeobox 1 gene DOID:0060457 posterior polymorphous corneal dystrophy ISO RGD:1313832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy PMID:11978762|PMID:15623752|PMID:16303937|PMID:16384943|PMID:18216574|PMID:18626569|PMID:19763142|PMID:21976959|PMID:22171159|PMID:23592923|PMID:24033266|PMID:25741868|PMID:26879370|PMID:28492532|PMID:7795607 12337480 VSX1 visual system homeobox 1 gene DOID:0110855 posterior polymorphous corneal dystrophy 1 ISO RGD:1313832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CORNEAL DYSTROPHY, HEREDITARY POLYMORPHOUS POSTERIOR | ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1 PMID:11978762|PMID:15623752|PMID:16303937|PMID:16384943|PMID:18216574|PMID:18626569|PMID:19763142|PMID:21976959|PMID:22171159|PMID:23592923|PMID:24033266|PMID:25741868|PMID:26879370|PMID:28492532|PMID:7795607 12337480 VSX1 visual system homeobox 1 gene DOID:10126 keratoconus ISO RGD:1313832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus PMID:23592923|PMID:24033266|PMID:28492532 12337480 VSX1 visual system homeobox 1 gene DOID:2566 corneal dystrophy ISO RGD:1313832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11978762 12337480 VSX1 visual system homeobox 1 gene DOID:2566 corneal dystrophy ISO RGD:1313832 D RGD:9068941 20200609 RGD KTCN1, OMIM:148300, PPCD1, OMIM:122000 PMID:11978762|REF_RGD_ID:1599773 12337480 VSX1 visual system homeobox 1 gene DOID:2566 corneal dystrophy ISO RGD:1313832 D RGD:9068941 20200609 RGD associated with Craniofacial Abnormalities;DNA:missense mutations:cds:p.A256S, p.R131S (human) PMID:15051220|REF_RGD_ID:8657029 12337480 VSX1 visual system homeobox 1 gene DOID:2843 long QT syndrome ISO RGD:1313832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12337480 VSX1 visual system homeobox 1 gene DOID:3642 empty sella syndrome ISO RGD:1313832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15051220 12337480 VSX1 visual system homeobox 1 gene DOID:5679 retinal disease ISO RGD:1313832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15051220 12337480 VSX1 visual system homeobox 1 gene DOID:630 genetic disease ISO RGD:1313832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12337480 VSX1 visual system homeobox 1 gene DOID:9000682 Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome ISO RGD:1313832 D RGD:7240710 20180130 OMIM 12337480 VSX1 visual system homeobox 1 gene DOID:9000682 Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome ISO RGD:1313832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniofacial anomalies and anterior segment dysgenesis syndrome PMID:11978762|PMID:15051220|PMID:16303937|PMID:21976959|PMID:25741868|PMID:28492532 12337480 VSX1 visual system homeobox 1 gene DOID:9002886 Auditory Perceptual Disorders ISO RGD:1313832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15051220 12337480 VSX1 visual system homeobox 1 gene DOID:9003318 Keratoconus 1 ISO RGD:1313832 D RGD:7240710 20180130 OMIM 12337480 VSX1 visual system homeobox 1 gene DOID:9003318 Keratoconus 1 ISO RGD:1313832 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Keratoconus 1 PMID:11978762|PMID:15623752|PMID:16303937|PMID:16384943|PMID:18216574|PMID:21976959|PMID:22171159|PMID:25741868|PMID:28492532 12337480 VSX1 visual system homeobox 1 gene DOID:9003318 Keratoconus 1 no_association ISO RGD:1313832 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D144E (human) PMID:17960127|REF_RGD_ID:8657045 12337480 VSX1 visual system homeobox 1 gene DOID:9003318 Keratoconus 1 no_association ISO RGD:1313832 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L159M, p.R166W, p.H244R (human) PMID:18216574|REF_RGD_ID:8657052 12337480 VSX1 visual system homeobox 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1313832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15051220 12337480 VSX1 visual system homeobox 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1313832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15051220 12337487 MRPS2 mitochondrial ribosomal protein S2 gene DOID:0050777 Joubert syndrome ISO RGD:1319275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12337487 MRPS2 mitochondrial ribosomal protein S2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1319275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12337487 MRPS2 mitochondrial ribosomal protein S2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12337487 MRPS2 mitochondrial ribosomal protein S2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1319275 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12337487 MRPS2 mitochondrial ribosomal protein S2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319275 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12337487 MRPS2 mitochondrial ribosomal protein S2 gene DOID:0081097 Rafiq syndrome ISO RGD:1319275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12337487 MRPS2 mitochondrial ribosomal protein S2 gene DOID:0111482 combined oxidative phosphorylation deficiency 36 ISO RGD:1319275 D RGD:7240710 20190315 OMIM 12337487 MRPS2 mitochondrial ribosomal protein S2 gene DOID:0111482 combined oxidative phosphorylation deficiency 36 ISO RGD:1319275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 36 PMID:25741868|PMID:28492532|PMID:29576219 12337487 MRPS2 mitochondrial ribosomal protein S2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1319275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12337487 MRPS2 mitochondrial ribosomal protein S2 gene DOID:3652 Leigh disease ISO RGD:1319275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12337487 MRPS2 mitochondrial ribosomal protein S2 gene DOID:630 genetic disease ISO RGD:1319275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12337487 MRPS2 mitochondrial ribosomal protein S2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1319275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:10652 Alzheimer's disease ISO RGD:736208 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus CA1 (human) PMID:12391607|REF_RGD_ID:10401229 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:10326 D RGD:9068941 20200609 RGD PMID:23911420|REF_RGD_ID:10401268 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:11573 listeriosis severity ISO RGD:10326 D RGD:9068941 20210108 RGD PMID:17911624|REF_RGD_ID:40903039 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:12858 Huntington's disease ISO RGD:10326 D RGD:9068941 20200609 RGD protein:increased expression:brain (mouse) PMID:14749423|REF_RGD_ID:10401227 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:14262 oral candidiasis susceptibility ISO RGD:10326 D RGD:9068941 20210108 RGD PMID:26317211|REF_RGD_ID:11079756 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:1725 peritoneum cancer severity ISO RGD:10326 D RGD:9068941 20210108 RGD associated with stomach cancer PMID:26514342|REF_RGD_ID:11556383 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:2256 osteochondrodysplasia ISO RGD:10326 D RGD:9068941 20221020 MouseDO 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:2316 brain ischemia ISO RGD:736208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17394460 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:299 adenocarcinoma ISO RGD:736208 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:3770 pulmonary fibrosis ISO RGD:736208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17177178 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:399 tuberculosis ISO RGD:10326 D RGD:9068941 20210108 RGD mRNA:increased expression:lung, spleen (mouse) PMID:28558034|REF_RGD_ID:40903038 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:630 genetic disease ISO RGD:736208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:684 hepatocellular carcinoma ISO RGD:736208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563831 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:684 hepatocellular carcinoma ISO RGD:736208 D RGD:9068941 20210108 RGD mRNA:increased expression:liver (human) PMID:30659195|REF_RGD_ID:40903042 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:7148 rheumatoid arthritis ISO RGD:736208 D RGD:9068941 20200609 RGD protein:increased expression:knee, articular cartilage (human) PMID:19248099|REF_RGD_ID:10401213 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:8398 osteoarthritis susceptibility ISO RGD:10326 D RGD:9068941 20200609 RGD PMID:22095691|REF_RGD_ID:10401214 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:9000217 Stomach Neoplasms ISO RGD:736208 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:9000784 Fibrosis ISO RGD:736208 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:29266779 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:9000918 Disease Progression ISO RGD:736208 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:9000998 Brain Injuries ISO RGD:10326 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex (mouse) PMID:19833158|REF_RGD_ID:10401206 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:9000998 Brain Injuries ISO RGD:736208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:9001371 Eosinophilia ISO RGD:10326 D RGD:9068941 20210108 RGD PMID:24078688|REF_RGD_ID:40903041 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:9003936 Cardiomegaly ISO RGD:736208 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:29266779 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:9004484 Sepsis ISO RGD:2327 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:11792653|REF_RGD_ID:625506 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:9005036 Bacteremia ISO RGD:10326 D RGD:9068941 20210108 RGD associated with alcohol use disorder;mRNA:increased expression:bone marrow (mouse) PMID:28784931|REF_RGD_ID:40903040 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:9005372 Inflammation ISO RGD:736208 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid;protein:increased expression:synovial lining cell, nucleus (human) PMID:10370372|REF_RGD_ID:10401215 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:9005930 Endotoxemia ISO RGD:10326 D RGD:9068941 20210108 RGD PMID:14659593|REF_RGD_ID:40903034 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:9005930 Endotoxemia treatment ISO RGD:2327 D RGD:9068941 20210108 RGD PMID:15192048|REF_RGD_ID:1625687 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:9006966 Pseudomonas Aeruginosa Keratitis treatment ISO RGD:10326 D RGD:9068941 20210108 RGD mRNA,protein:increased expression:cornea (mouse) PMID:23626014|REF_RGD_ID:40903020 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:9007346 Cachexia treatment ISO RGD:10326 D RGD:9068941 20210108 RGD PMID:27122162|REF_RGD_ID:40903021 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:9007456 Female Infertility ISO RGD:736208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21177758 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:9008824 Sarcopenia ISO RGD:736208 D RGD:9068941 20200609 RGD mRNA:increased expression:vastus lateralis muscle (human) PMID:15687482|REF_RGD_ID:10401226 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:934 viral infectious disease ISO RGD:10326 D RGD:9068941 20220825 MouseDO 12337530 CEBPB CCAAT enhancer binding protein beta gene DOID:9452 fatty liver disease ISO RGD:736208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24469900 12337594 SLC35A1 solute carrier family 35 member A1 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1322776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:24033266|PMID:25741868|PMID:28492532 12337594 SLC35A1 solute carrier family 35 member A1 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1322776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:24033266|PMID:25741868|PMID:28492532 12337594 SLC35A1 solute carrier family 35 member A1 gene DOID:0060275 pontocerebellar hypoplasia type 6 ISO RGD:1322776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy fatal infantile with mitochondrial respiratory chain defects PMID:25741868|PMID:28492532 12337594 SLC35A1 solute carrier family 35 member A1 gene DOID:0070258 congenital disorder of glycosylation type IIf ISO RGD:1322776 D RGD:7240710 20180130 OMIM 12337594 SLC35A1 solute carrier family 35 member A1 gene DOID:0070258 congenital disorder of glycosylation type IIf ISO RGD:1322776 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2F | ClinVar Annotator: match by term: SLC35A1-CDG PMID:15576474|PMID:21864493|PMID:23873973|PMID:24033266|PMID:25552652|PMID:25741868|PMID:28492532|PMID:28856833|PMID:30115659 12337594 SLC35A1 solute carrier family 35 member A1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1322776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:24033266|PMID:25741868|PMID:28492532 12337594 SLC35A1 solute carrier family 35 member A1 gene DOID:630 genetic disease ISO RGD:1322776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12337604 SEC11C SEC11 homolog C, signal peptidase complex subunit gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1348413 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 12337604 SEC11C SEC11 homolog C, signal peptidase complex subunit gene DOID:0111988 immunodeficiency 12 ISO RGD:1348413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 12337604 SEC11C SEC11 homolog C, signal peptidase complex subunit gene DOID:630 genetic disease ISO RGD:1348413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12337614 HSP90B1 heat shock protein 90 beta family member 1 gene DOID:0112312 male infertility due to globozoospermia ISO RGD:1321410 D RGD:9068941 20220825 MouseDO 12337614 HSP90B1 heat shock protein 90 beta family member 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1321409 D RGD:9068941 20220812 RGD mRNA:increased expression:lung (human) PMID:23374247|REF_RGD_ID:151708716 12337614 HSP90B1 heat shock protein 90 beta family member 1 gene DOID:630 genetic disease ISO RGD:1321409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12337614 HSP90B1 heat shock protein 90 beta family member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 12337614 HSP90B1 heat shock protein 90 beta family member 1 gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:1321410 D RGD:9068941 20230302 RGD PMID:36044268|REF_RGD_ID:156430337 12337636 PRPF4 pre-mRNA processing factor 4 gene DOID:0110392 retinitis pigmentosa 70 ISO RGD:1322687 D RGD:7240710 20180130 OMIM 12337636 PRPF4 pre-mRNA processing factor 4 gene DOID:0110392 retinitis pigmentosa 70 ISO RGD:1322687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 70 PMID:17576681|PMID:24419317|PMID:25741868|PMID:28492532|PMID:8090199|PMID:9536098 12337636 PRPF4 pre-mRNA processing factor 4 gene DOID:303 substance-related disorder ISO RGD:1322687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12337636 PRPF4 pre-mRNA processing factor 4 gene DOID:630 genetic disease ISO RGD:1322687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24419317|PMID:25741868|PMID:28492532|PMID:8090199 12337636 PRPF4 pre-mRNA processing factor 4 gene DOID:8501 fundus dystrophy ISO RGD:1322687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 12337654 UBXN1 UBX domain protein 1 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1606294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 12337654 UBXN1 UBX domain protein 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12337654 UBXN1 UBX domain protein 1 gene DOID:1059 intellectual disability ISO RGD:1606294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12337654 UBXN1 UBX domain protein 1 gene DOID:630 genetic disease ISO RGD:1606294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12337654 UBXN1 UBX domain protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12337654 UBXN1 UBX domain protein 1 gene DOID:9000918 Disease Progression ISO RGD:1606294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12337668 CATSPERD cation channel sperm associated auxiliary subunit delta gene DOID:630 genetic disease ISO RGD:1604493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12337707 CSNK1G2 casein kinase 1 gamma 2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:734368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12337707 CSNK1G2 casein kinase 1 gamma 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:734368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12337707 CSNK1G2 casein kinase 1 gamma 2 gene DOID:630 genetic disease ISO RGD:734368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12337707 CSNK1G2 casein kinase 1 gamma 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12337728 TFCP2 transcription factor CP2 gene DOID:630 genetic disease ISO RGD:1315527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12337791 F11R F11 receptor gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1348345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12337791 F11R F11 receptor gene DOID:10763 hypertension ISO RGD:621842 D RGD:9068941 20200609 RGD PMID:17420334|REF_RGD_ID:7488939 12337791 F11R F11 receptor gene DOID:10763 hypertension susceptibility ISO RGD:1348345 D RGD:9068941 20200609 RGD DNA:SNPs: :rs790056, rs2774276 (human) PMID:18067551|REF_RGD_ID:7488938 12337791 F11R F11 receptor gene DOID:13976 peptic esophagitis treatment ISO RGD:621842 D RGD:9068941 20200609 RGD PMID:19478094|REF_RGD_ID:7488941 12337791 F11R F11 receptor gene DOID:1540 parathyroid carcinoma ISO RGD:1348345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12337791 F11R F11 receptor gene DOID:1612 breast cancer disease_progression ISO RGD:1348345 D RGD:9068941 20200609 RGD PMID:19533747|REF_RGD_ID:7488915 12337791 F11R F11 receptor gene DOID:1936 atherosclerosis ISO RGD:733604 D RGD:9068941 20200609 RGD mRNA:increased expression:carotid artery PMID:15681301|REF_RGD_ID:7488921 12337791 F11R F11 receptor gene DOID:224 transient cerebral ischemia treatment ISO RGD:621842 D RGD:9068941 20200609 RGD PMID:22868201|REF_RGD_ID:7488943 12337791 F11R F11 receptor gene DOID:2773 contact dermatitis ISO RGD:1553576 D RGD:9068941 20200609 RGD PMID:15343392|REF_RGD_ID:7488917 12337791 F11R F11 receptor gene DOID:418 systemic scleroderma ISO RGD:1348345 D RGD:9068941 20200609 RGD PMID:19153103|REF_RGD_ID:7488918 12337791 F11R F11 receptor gene DOID:630 genetic disease ISO RGD:1348345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12337791 F11R F11 receptor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1553576 D RGD:9068941 20200609 RGD PMID:21695058|REF_RGD_ID:7488916 12337791 F11R F11 receptor gene DOID:9000564 Prehypertension ISO RGD:621842 D RGD:9068941 20200609 RGD PMID:17420334|REF_RGD_ID:7488939 12337791 F11R F11 receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1348345 D RGD:9068941 20200609 RGD PMID:22120722|REF_RGD_ID:7488922 12337791 F11R F11 receptor gene DOID:9005372 Inflammation ISO RGD:621842 D RGD:9068941 20200609 RGD PMID:17007822|REF_RGD_ID:7488934 12337791 F11R F11 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621842 D RGD:9068941 20200609 RGD PMID:18506084|REF_RGD_ID:7488940 12337791 F11R F11 receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12337804 RECQL4 RecQ like helicase 4 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1317096 D RGD:7240710 20180130 OMIM 12337804 RECQL4 RecQ like helicase 4 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1317096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome | ClinVar Annotator: match by term: Craniosynostosis with radial defects PMID:10319867|PMID:10678659|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15221963|PMID:15897384|PMID:15964893|PMID:16199547|PMID:16630167|PMID:17250521|PMID:17250975|PMID:17372760|PMID:17576681|PMID:18504617|PMID:18616953|PMID:18716613|PMID:19291770|PMID:20503338|PMID:21143835|PMID:21418107|PMID:22730300|PMID:22885111|PMID:23238538|PMID:23899764|PMID:24033266|PMID:24518840|PMID:24635570|PMID:24728327|PMID:25120469|PMID:25326635|PMID:25640679|PMID:25741868|PMID:25966250|PMID:26491355|PMID:26556299|PMID:27247962|PMID:27352193|PMID:27425854|PMID:27498913|PMID:28039508|PMID:28076423|PMID:28202063|PMID:28358413|PMID:28486640|PMID:28492532|PMID:28653661|PMID:28724667|PMID:28767289|PMID:28825054|PMID:28873162|PMID:29168297|PMID:29367366|PMID:29462647|PMID:29478780|PMID:29506128|PMID:29625052|PMID:29641532|PMID:29642415|PMID:30007837|PMID:30086788|PMID:30262796|PMID:30306255|PMID:30651579|PMID:30680959|PMID:30724488|PMID:30995915|PMID:31604778|PMID:31829210|PMID:32139749|PMID:32482547|PMID:32659497|PMID:32659967|PMID:32729250|PMID:33046774|PMID:33077847|PMID:33144682|PMID:33294214|PMID:33606809|PMID:33674555|PMID:34006472|PMID:34155702|PMID:34308366|PMID:9536098|PMID:9878247 12337804 RECQL4 RecQ like helicase 4 gene DOID:0050774 rapadilino syndrome ISO RGD:1317096 D RGD:7240710 20180130 OMIM 12337804 RECQL4 RecQ like helicase 4 gene DOID:0050774 rapadilino syndrome ISO RGD:1317096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rapadilino syndrome PMID:10319867|PMID:10678659|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15964893|PMID:16199547|PMID:17250975|PMID:18504617|PMID:18716613|PMID:19291770|PMID:22885111|PMID:23238538|PMID:24033266|PMID:24518840|PMID:24635570|PMID:24728327|PMID:25741868|PMID:25966250|PMID:27247962|PMID:28486640|PMID:28492532|PMID:29478780|PMID:29625052|PMID:32482547|PMID:33046774|PMID:33077847|PMID:33294214|PMID:9878247 12337804 RECQL4 RecQ like helicase 4 gene DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 ISO RGD:1317096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 PMID:10678659|PMID:12734318|PMID:12838562|PMID:15964893|PMID:18716613|PMID:25741868 12337804 RECQL4 RecQ like helicase 4 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1317096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 12337804 RECQL4 RecQ like helicase 4 gene DOID:1612 breast cancer ISO RGD:1317096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532 12337804 RECQL4 RecQ like helicase 4 gene DOID:1907 malignant fibrous histiocytoma ISO RGD:1317096 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant fibrous histiocytoma PMID:12734318|PMID:12952869|PMID:25741868|PMID:28492532 12337804 RECQL4 RecQ like helicase 4 gene DOID:2394 ovarian cancer ISO RGD:1317096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:15221963|PMID:24728327|PMID:25741868|PMID:26491355|PMID:28202063|PMID:28492532 12337804 RECQL4 RecQ like helicase 4 gene DOID:2732 Rothmund-Thomson syndrome ISO RGD:1317096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rothmund-Thomson syndrome PMID:10319867|PMID:10678659|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15964893|PMID:17250521|PMID:18716613|PMID:21418107|PMID:24033266|PMID:24635570|PMID:25120469|PMID:25326635|PMID:25741868|PMID:27247962|PMID:28492532|PMID:29367366|PMID:29642415 12337804 RECQL4 RecQ like helicase 4 gene DOID:3374 peripheral osteosarcoma ISO RGD:1317096 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: High grade surface osteosarcoma PMID:10678659|PMID:12734318|PMID:12838562|PMID:15964893|PMID:18716613|PMID:25741868 12337804 RECQL4 RecQ like helicase 4 gene DOID:4621 holoprosencephaly ISO RGD:1317096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12337804 RECQL4 RecQ like helicase 4 gene DOID:630 genetic disease ISO RGD:1317096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10319867|PMID:10678659|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15964893|PMID:18716613|PMID:21418107|PMID:24635570|PMID:24728327|PMID:25120469|PMID:25741868|PMID:27247962|PMID:28492532|PMID:28767289|PMID:29367366|PMID:29641532|PMID:29642415|PMID:30306255|PMID:30651579|PMID:30680959|PMID:32139749|PMID:32659497 12337804 RECQL4 RecQ like helicase 4 gene DOID:687 hepatoblastoma ISO RGD:1317096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 12337804 RECQL4 RecQ like helicase 4 gene DOID:9005992 Rothmund-Thomson Syndrome Type 2 ISO RGD:1317096 D RGD:7240710 20191023 OMIM 12337804 RECQL4 RecQ like helicase 4 gene DOID:9005992 Rothmund-Thomson Syndrome Type 2 ISO RGD:1317096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 2 PMID:10319867|PMID:10678659|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15964893|PMID:16199547|PMID:17576681|PMID:18504617|PMID:18616953|PMID:18716613|PMID:19291770|PMID:20503338|PMID:21143835|PMID:21418107|PMID:23238538|PMID:24033266|PMID:24518840|PMID:24635570|PMID:24728327|PMID:25120469|PMID:25741868|PMID:27247962|PMID:28039508|PMID:28486640|PMID:28492532|PMID:28767289|PMID:28873162|PMID:29168297|PMID:29478780|PMID:29625052|PMID:29641532|PMID:29642415|PMID:30086788|PMID:30306255|PMID:30680959|PMID:30724488|PMID:31604778|PMID:32139749|PMID:32482547|PMID:32659497|PMID:33046774|PMID:33077847|PMID:33294214|PMID:34308366|PMID:9536098|PMID:9878247 12337804 RECQL4 RecQ like helicase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10319867|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15221963|PMID:15964893|PMID:16199547|PMID:17576681|PMID:18716613|PMID:19291770|PMID:21418107|PMID:24518840|PMID:24635570|PMID:24728327|PMID:25120469|PMID:25741868|PMID:26491355|PMID:27247962|PMID:27425854|PMID:28202063|PMID:28486640|PMID:28492532|PMID:28724667|PMID:28767289|PMID:28873162|PMID:29367366|PMID:29478780|PMID:29625052|PMID:29641532|PMID:29642415|PMID:30306255|PMID:30680959|PMID:30724488|PMID:31829210|PMID:32139749|PMID:32482547|PMID:32659497|PMID:32659967|PMID:32729250|PMID:33077847|PMID:33294214|PMID:33606809|PMID:33674555|PMID:9536098|PMID:9878247 12337804 RECQL4 RecQ like helicase 4 gene DOID:9008840 DNA Repair-Deficiency Disorders ISO RGD:1317097 D RGD:9068941 20200609 RGD PMID:25859855|REF_RGD_ID:13207506 12337804 RECQL4 RecQ like helicase 4 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1317096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 12337804 RECQL4 RecQ like helicase 4 gene DOID:9538 multiple myeloma ISO RGD:1317096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma PMID:28492532 12337826 NOD1 nucleotide binding oligomerization domain containing 1 gene DOID:0060180 colitis ISO RGD:1557544 D RGD:9068941 20200609 RGD PMID:20921147|REF_RGD_ID:5508755 12337826 NOD1 nucleotide binding oligomerization domain containing 1 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1344653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 12337826 NOD1 nucleotide binding oligomerization domain containing 1 gene DOID:10457 Legionnaires' disease ISO RGD:1557544 D RGD:9068941 20200609 RGD PMID:20685341|REF_RGD_ID:5131443 12337826 NOD1 nucleotide binding oligomerization domain containing 1 gene DOID:2841 asthma ISO RGD:1344653 D RGD:9068941 20200609 RGD DNA:insertion:cds: PMID:15718249|REF_RGD_ID:5131518 12337826 NOD1 nucleotide binding oligomerization domain containing 1 gene DOID:2841 asthma susceptibility ISO RGD:1344653 D RGD:9068941 20200609 RGD DNA:SNP: :rs2075817 (human) PMID:16918516|REF_RGD_ID:5131519 12337826 NOD1 nucleotide binding oligomerization domain containing 1 gene DOID:4483 rhinitis ISO RGD:1344653 D RGD:9068941 20200609 RGD mRNA:decreased expression:nose PMID:20384614|REF_RGD_ID:5131446 12337826 NOD1 nucleotide binding oligomerization domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12337826 NOD1 nucleotide binding oligomerization domain containing 1 gene DOID:630 genetic disease ISO RGD:1344653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12337826 NOD1 nucleotide binding oligomerization domain containing 1 gene DOID:863 nervous system disease ISO RGD:1344653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11158245 12337826 NOD1 nucleotide binding oligomerization domain containing 1 gene DOID:874 bacterial pneumonia ISO RGD:1557544 D RGD:9068941 20200609 RGD PMID:19360122|REF_RGD_ID:5131449 12337826 NOD1 nucleotide binding oligomerization domain containing 1 gene DOID:9003139 Cardiac Fibrosis ISO RGD:1557544 D RGD:9068941 20200609 RGD PMID:23028889|REF_RGD_ID:9831166 12337826 NOD1 nucleotide binding oligomerization domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12337826 NOD1 nucleotide binding oligomerization domain containing 1 gene DOID:9008103 Seasonal Allergic Rhinitis susceptibility ISO RGD:1344653 D RGD:9068941 20200609 RGD DNA:SNP: :rs2075817 (human) PMID:16918516|REF_RGD_ID:5131519 12337865 NOSIP nitric oxide synthase interacting protein gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1320636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12337865 NOSIP nitric oxide synthase interacting protein gene DOID:4621 holoprosencephaly ISO RGD:1320637 D RGD:9068941 20220825 MouseDO 12337865 NOSIP nitric oxide synthase interacting protein gene DOID:630 genetic disease ISO RGD:1320636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12337878 NANOS2 nanos C2HC-type zinc finger 2 gene DOID:12336 male infertility ISO RGD:1354099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22190708 12337878 NANOS2 nanos C2HC-type zinc finger 2 gene DOID:630 genetic disease ISO RGD:1354099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12337881 MRI1 methylthioribose-1-phosphate isomerase 1 gene DOID:1289 neurodegenerative disease ISO RGD:1604271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe cystic degeneration of the brain PMID:25558065 12337881 MRI1 methylthioribose-1-phosphate isomerase 1 gene DOID:630 genetic disease ISO RGD:1604271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10685980|PMID:10720932|PMID:11226335|PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12941782|PMID:14764815|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17114887|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17389331|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:18025408|PMID:18346985|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19342262|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:20573158|PMID:20685672|PMID:20943779|PMID:20943781|PMID:21109997|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21674179|PMID:21716120|PMID:21968111|PMID:21978130|PMID:2198959|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23093687|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23506826|PMID:24033266|PMID:24044690|PMID:24072082|PMID:24332968|PMID:24401662|PMID:24622368|PMID:24686051|PMID:25008049|PMID:25201519|PMID:25323548|PMID:25741868|PMID:25765446|PMID:26180531|PMID:26208381|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27271189|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27889714|PMID:27908292|PMID:28270372|PMID:28442472|PMID:28492532|PMID:28701683|PMID:29216354|PMID:29439679|PMID:29644095|PMID:29893194|PMID:30186238|PMID:30352420|PMID:30386300|PMID:30395892|PMID:31208162|PMID:31997554|PMID:32027066|PMID:32202736|PMID:32333556|PMID:32792356|PMID:32893419|PMID:32928245|PMID:32935446|PMID:33046911|PMID:33185579|PMID:33606663|PMID:34764980|PMID:8751851|PMID:8923011|PMID:9519757|PMID:9536098|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0060319 cardiac arrest treatment ISO RGD:3786 D RGD:9068941 20200609 RGD PMID:26010685|REF_RGD_ID:12791997 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:733938 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10202168|PMID:10204114|PMID:1021286|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:11226335|PMID:11395395|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16199547|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17257281|PMID:17378627|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17668386|PMID:17823772|PMID:18025408|PMID:18346985|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20424228|PMID:20573158|PMID:20685672|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21674179|PMID:21716120|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22876564|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24033266|PMID:24332968|PMID:24401662|PMID:24686051|PMID:25741868|PMID:25765446|PMID:26379717|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27908292|PMID:28270372|PMID:28492532|PMID:28587604|PMID:28701683|PMID:29216354|PMID:29644095|PMID:29893194|PMID:30186238|PMID:30386300|PMID:30515958|PMID:32027066|PMID:32202736|PMID:32333556|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33185579|PMID:34194474|PMID:34631896|PMID:8923011|PMID:9519757|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:733938 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10685980|PMID:10720932|PMID:11226335|PMID:11395395|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:14764815|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17114887|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17668386|PMID:17823772|PMID:18025408|PMID:18346985|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20424228|PMID:20573158|PMID:20685672|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21674179|PMID:21716120|PMID:21978130|PMID:2198959|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24033266|PMID:24044690|PMID:24332968|PMID:24401662|PMID:24686051|PMID:25008049|PMID:25201519|PMID:25323548|PMID:25741868|PMID:25765446|PMID:26180531|PMID:26379717|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27889714|PMID:27908292|PMID:28270372|PMID:28492532|PMID:28587604|PMID:28701683|PMID:29216354|PMID:29644095|PMID:29893194|PMID:30186238|PMID:30386300|PMID:30395892|PMID:30515958|PMID:31208162|PMID:31997554|PMID:32027066|PMID:32202736|PMID:32333556|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33185579|PMID:34194474|PMID:34631896|PMID:8751851|PMID:8923011|PMID:9519757|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:733938 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10685980|PMID:10720932|PMID:11226335|PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:14764815|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17114887|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17575084|PMID:17668386|PMID:17823772|PMID:18025408|PMID:18346985|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20573158|PMID:20685672|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21674179|PMID:21716120|PMID:21978130|PMID:2198959|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23506826|PMID:24033266|PMID:24044690|PMID:24072082|PMID:24332968|PMID:24401662|PMID:24686051|PMID:25008049|PMID:25201519|PMID:25323548|PMID:25741868|PMID:25765446|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27889714|PMID:27908292|PMID:28270372|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:29216354|PMID:29644095|PMID:29893194|PMID:30186238|PMID:30386300|PMID:30395892|PMID:30515958|PMID:31208162|PMID:31997554|PMID:32027066|PMID:32202736|PMID:32333556|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33185579|PMID:34194474|PMID:34631896|PMID:8751851|PMID:8923011|PMID:9519757|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:733938 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10685980|PMID:10720932|PMID:11226335|PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:14764815|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17114887|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17575084|PMID:17668386|PMID:17823772|PMID:18025408|PMID:18346985|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20573158|PMID:20685672|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21674179|PMID:21716120|PMID:21978130|PMID:2198959|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23506826|PMID:24033266|PMID:24044690|PMID:24072082|PMID:24332968|PMID:24401662|PMID:24686051|PMID:25008049|PMID:25201519|PMID:25323548|PMID:25741868|PMID:25765446|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27889714|PMID:27908292|PMID:28270372|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:29216354|PMID:29644095|PMID:29893194|PMID:30186238|PMID:30386300|PMID:30395892|PMID:30515958|PMID:31208162|PMID:31997554|PMID:32027066|PMID:32202736|PMID:32333556|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33185579|PMID:34194474|PMID:34631896|PMID:34764980|PMID:8751851|PMID:8923011|PMID:9519757|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10685980|PMID:10720932|PMID:11226335|PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12941782|PMID:14764815|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17114887|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:18025408|PMID:18346985|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20573158|PMID:20685672|PMID:20943779|PMID:20943781|PMID:21109997|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21674179|PMID:21716120|PMID:21968111|PMID:21978130|PMID:2198959|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23506826|PMID:24033266|PMID:24044690|PMID:24072082|PMID:24332968|PMID:24401662|PMID:24686051|PMID:25008049|PMID:25201519|PMID:25323548|PMID:25741868|PMID:25765446|PMID:26180531|PMID:26208381|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27889714|PMID:27908292|PMID:28270372|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:29216354|PMID:29644095|PMID:29893194|PMID:30186238|PMID:30352420|PMID:30386300|PMID:30395892|PMID:30515958|PMID:31208162|PMID:31997554|PMID:32027066|PMID:32202736|PMID:32333556|PMID:32792356|PMID:32893419|PMID:32928245|PMID:32935446|PMID:33046911|PMID:33185579|PMID:34194474|PMID:34631896|PMID:34764980|PMID:8751851|PMID:8923011|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:10204114|PMID:10338089|PMID:10426386|PMID:10447255|PMID:10487673|PMID:10685980|PMID:10720932|PMID:10857971|PMID:10923633|PMID:11272143|PMID:11318841|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12166651|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12941782|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15111507|PMID:15356046|PMID:15513899|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15842514|PMID:15855351|PMID:16357843|PMID:16367916|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16860127|PMID:16885549|PMID:17257281|PMID:17378627|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17539904|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:18025408|PMID:18025464|PMID:18339976|PMID:18346985|PMID:18414213|PMID:18436707|PMID:18493152|PMID:18596924|PMID:18599530|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20672374|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20922570|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21544516|PMID:21674179|PMID:21716120|PMID:21814221|PMID:21851374|PMID:21989597|PMID:21992908|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22902787|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24033266|PMID:24080777|PMID:24332968|PMID:24401662|PMID:24616771|PMID:24768178|PMID:24814349|PMID:24959012|PMID:25306193|PMID:25741868|PMID:25765446|PMID:25871929|PMID:25955821|PMID:25972930|PMID:26180531|PMID:26379717|PMID:26448950|PMID:26467025|PMID:26740944|PMID:26758964|PMID:27175728|PMID:27313609|PMID:27538677|PMID:27677908|PMID:27681997|PMID:27754802|PMID:27810688|PMID:27908292|PMID:27913849|PMID:28346775|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29127764|PMID:29207974|PMID:29216354|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30098243|PMID:30297969|PMID:30352420|PMID:30354297|PMID:30386300|PMID:30447144|PMID:30515958|PMID:30977832|PMID:31595705|PMID:31604004|PMID:32027066|PMID:32041611|PMID:32333556|PMID:32640185|PMID:32792356|PMID:32893419|PMID:32928245|PMID:32934261|PMID:32935446|PMID:33046911|PMID:33185579|PMID:33400071|PMID:33410562|PMID:33728157|PMID:34171966|PMID:34194474|PMID:34309670|PMID:34462253|PMID:34631896|PMID:35402560|PMID:7716548|PMID:8650576|PMID:8923011|PMID:9075812|PMID:9382893|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9867219 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0070218 familial hyperinsulinemic hypoglycemia 2 ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2 PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16455067|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532|PMID:29893194|PMID:32935446|PMID:9867219 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0070219 familial hyperinsulinemic hypoglycemia 1 ISO RGD:733938 D RGD:7240710 20180912 OMIM 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0070219 familial hyperinsulinemic hypoglycemia 1 ISO RGD:733938 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10487673|PMID:10615958|PMID:10685979|PMID:10685980|PMID:10720932|PMID:10828824|PMID:10857971|PMID:10923633|PMID:10993895|PMID:11018078|PMID:11226335|PMID:11272143|PMID:11395395|PMID:11457841|PMID:11697420|PMID:11867634|PMID:11999683|PMID:12166651|PMID:12169627|PMID:12199344|PMID:12364426|PMID:12559865|PMID:12627323|PMID:12784138|PMID:12941782|PMID:14593442|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15111507|PMID:15356046|PMID:15466080|PMID:15561897|PMID:15562009|PMID:15579781|PMID:15580558|PMID:15718250|PMID:15807877|PMID:15842514|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16367916|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16613899|PMID:16860127|PMID:16882742|PMID:16885549|PMID:16969006|PMID:17236890|PMID:17378627|PMID:17384337|PMID:17446535|PMID:17466004|PMID:17539904|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:17990484|PMID:18025408|PMID:18025464|PMID:18073294|PMID:18339976|PMID:18346985|PMID:18390792|PMID:18414213|PMID:18436707|PMID:18493152|PMID:18596924|PMID:18599530|PMID:18758683|PMID:18767144|PMID:18796520|PMID:18981553|PMID:18988933|PMID:19151370|PMID:19475716|PMID:19766903|PMID:20042013|PMID:20427569|PMID:20432820|PMID:20573158|PMID:20672374|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20922570|PMID:20943779|PMID:20943781|PMID:21109997|PMID:21142918|PMID:21214702|PMID:21321069|PMID:21378087|PMID:21411514|PMID:21422196|PMID:21544516|PMID:21617188|PMID:21674179|PMID:21716120|PMID:21814221|PMID:21851374|PMID:21968111|PMID:21978130|PMID:2198959|PMID:21989597|PMID:21992908|PMID:22151254|PMID:22210575|PMID:22308858|PMID:22533711|PMID:22562119|PMID:22662265|PMID:22704848|PMID:22796691|PMID:22802590|PMID:22855730|PMID:22876564|PMID:22902787|PMID:23067144|PMID:23226049|PMID:23261959|PMID:23266803|PMID:23273570|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23506826|PMID:23652837|PMID:23744072|PMID:23771172|PMID:23771920|PMID:23798684|PMID:23903354|PMID:24033266|PMID:24044690|PMID:24072082|PMID:24080777|PMID:24145932|PMID:24332968|PMID:24401662|PMID:24411943|PMID:24434300|PMID:24616771|PMID:24645945|PMID:24686051|PMID:24750227|PMID:24768178|PMID:24814349|PMID:24937539|PMID:24959012|PMID:25008049|PMID:25117148|PMID:25201519|PMID:25306193|PMID:25323548|PMID:25518065|PMID:25525159|PMID:25555642|PMID:25584046|PMID:25639667|PMID:25720052|PMID:25741868|PMID:25765446|PMID:25781672|PMID:25871929|PMID:25931474|PMID:25955821|PMID:25972930|PMID:26180531|PMID:26208381|PMID:26246406|PMID:26268944|PMID:26316440|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26545620|PMID:26545876|PMID:26594346|PMID:26740944|PMID:26758964|PMID:26839896|PMID:27175728|PMID:27188453|PMID:27313609|PMID:27334808|PMID:27538677|PMID:27573238|PMID:27677908|PMID:27681997|PMID:27682711|PMID:27691052|PMID:27754802|PMID:27810688|PMID:27889714|PMID:27908292|PMID:27913849|PMID:28018462|PMID:28095440|PMID:28270372|PMID:28346775|PMID:28439221|PMID:28442472|PMID:28492532|PMID:28529015|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29082728|PMID:29127764|PMID:29207974|PMID:29216354|PMID:29644095|PMID:29675256|PMID:29751826|PMID:30098243|PMID:30114684|PMID:30186238|PMID:30191644|PMID:30297969|PMID:30352420|PMID:30354297|PMID:30386300|PMID:30395892|PMID:30447144|PMID:30462810|PMID:30515958|PMID:30977832|PMID:31002010|PMID:31208162|PMID:31218401|PMID:31291970|PMID:31464105|PMID:31595705|PMID:31604004|PMID:31727138|PMID:31997554|PMID:32027066|PMID:32041611|PMID:32202736|PMID:32640185|PMID:32670376|PMID:32792356|PMID:32893419|PMID:32928245|PMID:32934261|PMID:33046911|PMID:33240318|PMID:33300273|PMID:33400071|PMID:33410562|PMID:33502730|PMID:33728157|PMID:34015902|PMID:34171966|PMID:34194474|PMID:34309670|PMID:34462253|PMID:34566892|PMID:34631896|PMID:34764980|PMID:34777243|PMID:35402560|PMID:7716548|PMID:8650576|PMID:8751851|PMID:8923011|PMID:9041101|PMID:9075812|PMID:9382893 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0070219 familial hyperinsulinemic hypoglycemia 1 ISO RGD:733938 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9642650|PMID:9648840|PMID:9769320 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0080855 Parkinsonism ISO RGD:3786 D RGD:9068941 20200609 RGD PMID:15857625|REF_RGD_ID:1598645 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:733938 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10204114|PMID:10426386|PMID:10685980|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15807877|PMID:15855351|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17539904|PMID:17823772|PMID:18025408|PMID:18025464|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18981553|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21674179|PMID:21989597|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22704848|PMID:22855730|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24145932|PMID:24332968|PMID:24401662|PMID:25306193|PMID:25741868|PMID:25765446|PMID:26379717|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27538677|PMID:27908292|PMID:28492532|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30098243|PMID:30297969|PMID:30386300|PMID:30447144|PMID:30515958|PMID:30977832|PMID:31604004|PMID:31997554|PMID:32027066|PMID:32792356|PMID:32893419|PMID:32928245|PMID:33240318|PMID:33400071|PMID:33410562|PMID:34194474|PMID:34309670|PMID:35402560|PMID:8650576|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9648840|PMID:9867219 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10204114|PMID:10426386|PMID:10685980|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15807877|PMID:15855351|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17539904|PMID:17823772|PMID:18025408|PMID:18025464|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18981553|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21674179|PMID:21989597|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22704848|PMID:22749773|PMID:22855730|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24145932|PMID:24332968|PMID:24401662|PMID:24622368|PMID:25306193|PMID:25741868|PMID:25765446|PMID:25972930|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27538677|PMID:27681997|PMID:27908292|PMID:27913849|PMID:28439221|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29127764|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30098243|PMID:30186238|PMID:30297969|PMID:30386300|PMID:30447144|PMID:30487145|PMID:30515958|PMID:30977832|PMID:31604004|PMID:31997554|PMID:32027066|PMID:32041611|PMID:32640185|PMID:32792356|PMID:32893419|PMID:32928245|PMID:33013711|PMID:33240318|PMID:33400071|PMID:33410562|PMID:33587123|PMID:34171966|PMID:34194474|PMID:34309670|PMID:34462253|PMID:35402560|PMID:8650576|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9648840|PMID:9867219 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0111110 maturity-onset diabetes of the young type 13 ISO RGD:733938 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 13 PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16455067|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532|PMID:29893194|PMID:32935446|PMID:9867219 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0112262 leucine-sensitive hypoglycemia of infancy ISO RGD:733938 D RGD:7240710 20180130 OMIM 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:0112262 leucine-sensitive hypoglycemia of infancy ISO RGD:733938 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leucine-induced hypoglycemia | ClinVar Annotator: match by term: Leucine-sensitive hypoglycemia of infancy PMID:10204114|PMID:10426386|PMID:10857971|PMID:15356046|PMID:15579781|PMID:16429405|PMID:16442101|PMID:16613899|PMID:16885549|PMID:17378627|PMID:17466004|PMID:17823772|PMID:18025408|PMID:18414213|PMID:18596924|PMID:18981553|PMID:19475716|PMID:19766903|PMID:20685672|PMID:20799350|PMID:20943781|PMID:21142918|PMID:21422196|PMID:21674179|PMID:21814221|PMID:21989597|PMID:22151254|PMID:22533711|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23563683|PMID:24332968|PMID:24401662|PMID:25741868|PMID:25765446|PMID:25871929|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26467025|PMID:26740944|PMID:27538677|PMID:27677908|PMID:28492532|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29644095|PMID:29751826|PMID:30098243|PMID:30386300|PMID:30515958|PMID:30977832|PMID:31110826|PMID:31604004|PMID:32027066|PMID:32792356|PMID:32928245|PMID:33400071|PMID:34194474|PMID:34777243|PMID:8650576|PMID:8923011|PMID:9382893|PMID:9648840 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:1059 intellectual disability ISO RGD:733938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:10763 hypertension ISO RGD:733938 D RGD:9068941 20200609 RGD associated with obesity;DNA:polymorphism:exon: PMID:11030411|REF_RGD_ID:737749 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:11383 cryptorchidism ISO RGD:733938 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Bilateral cryptorchidism PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:11446 sciatic neuropathy ISO RGD:3786 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:21907492|REF_RGD_ID:12791994 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:11717 neonatal diabetes ISO RGD:733938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal diabetes mellitus PMID:15513899|PMID:16613899|PMID:16885549|PMID:17389331|PMID:17446535|PMID:17668386|PMID:17919176|PMID:17957187|PMID:18025408|PMID:18025464|PMID:18436707|PMID:18767144|PMID:18981553|PMID:19095654|PMID:20301620|PMID:21109997|PMID:21989597|PMID:22451668|PMID:22749773|PMID:24622368|PMID:25741868|PMID:26208381|PMID:26467025|PMID:27538677|PMID:28492532|PMID:32027066|PMID:32792356|PMID:32893419 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:11832 visual epilepsy ISO RGD:3786 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:dentate gyrus PMID:18021373|REF_RGD_ID:2301911 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:733938 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:13317 hyperinsulinemic hypoglycemia ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia | ClinVar Annotator: match by term: Islet cell hyperplasia | ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy | ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10685980|PMID:10720932|PMID:11226335|PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12941782|PMID:14764815|PMID:15111507|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17575084|PMID:17576681|PMID:17823772|PMID:18025408|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20573158|PMID:20685672|PMID:20799350|PMID:20943779|PMID:20943781|PMID:21378087|PMID:21422196|PMID:21674179|PMID:21716120|PMID:21968111|PMID:21978130|PMID:2198959|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22704848|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24033266|PMID:24044690|PMID:24072082|PMID:24332968|PMID:24401662|PMID:24616771|PMID:24686051|PMID:25201519|PMID:25323548|PMID:25741868|PMID:25765446|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27889714|PMID:28492532|PMID:28701683|PMID:29644095|PMID:29893194|PMID:30098243|PMID:30186238|PMID:30352420|PMID:30354297|PMID:30386300|PMID:30395892|PMID:30977832|PMID:31208162|PMID:31997554|PMID:32027066|PMID:32202736|PMID:32792356|PMID:32928245|PMID:34631896|PMID:34764980|PMID:8650576|PMID:8751851|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:1824 status epilepticus ISO RGD:3786 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:22050960|REF_RGD_ID:5686281 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:1882 atrial heart septal defect ISO RGD:733938 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:2018 hyperinsulinism ISO RGD:733938 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive PMID:10202168|PMID:10204114|PMID:1021286|PMID:10338089|PMID:10426386|PMID:10447255|PMID:10487673|PMID:10615958|PMID:10685980|PMID:10720932|PMID:10857971|PMID:10923633|PMID:10993895|PMID:11226335|PMID:11272143|PMID:11395395|PMID:11457841|PMID:11697420|PMID:11867634|PMID:11872696|PMID:11999683|PMID:12166651|PMID:12196481|PMID:12475776|PMID:12941782|PMID:14593442|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15111507|PMID:15356046|PMID:15466080|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15842514|PMID:15855351|PMID:16199547|PMID:16357843|PMID:16367916|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16860127|PMID:16882742|PMID:16885549|PMID:16969006|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17539904|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:18025408|PMID:18073294|PMID:18339976|PMID:18346985|PMID:18414213|PMID:18436707|PMID:18493152|PMID:18596924|PMID:18599530|PMID:18758683|PMID:18767144|PMID:18796520|PMID:18981553|PMID:18988933|PMID:19151370|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20424228|PMID:20427569|PMID:20432820|PMID:20672374|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21321069|PMID:21378087|PMID:21411514|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21716120|PMID:21814221|PMID:21851374|PMID:21978130|PMID:21989597|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22562119|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22802590|PMID:22855730|PMID:22902787|PMID:23067144|PMID:23226049|PMID:23261959|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23744072|PMID:23771172|PMID:23771920|PMID:24145932|PMID:24332968|PMID:24401662|PMID:24434300|PMID:24616771|PMID:24645945|PMID:24686051|PMID:24768178|PMID:24814349|PMID:24937539|PMID:24959012|PMID:25008049|PMID:25117148|PMID:25201519|PMID:25306193|PMID:25518065|PMID:25525159|PMID:25555642|PMID:25584046|PMID:25639667|PMID:25741868|PMID:25765446|PMID:25781672|PMID:25871929|PMID:25931474|PMID:25955821|PMID:25972930|PMID:26180531|PMID:26221353|PMID:26246406|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26594346|PMID:26740944|PMID:26758964|PMID:26839896|PMID:27175728|PMID:27188453|PMID:27538677|PMID:27573238|PMID:27677908|PMID:27682711|PMID:27754802|PMID:27908292|PMID:28095440|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29207974|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30114684|PMID:30186238|PMID:30297969|PMID:30352420|PMID:30386300|PMID:30447144|PMID:30515958|PMID:31464105|PMID:31604004|PMID:32027066|PMID:32333556|PMID:32670376|PMID:32792356|PMID:32934261|PMID:32935446|PMID:33185579|PMID:33240318|PMID:33400071|PMID:33410562|PMID:34194474|PMID:34309670|PMID:34631896|PMID:34777243|PMID:35402560|PMID:7716548|PMID:8923011|PMID:9041101|PMID:9075812|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9642650|PMID:9648840|PMID:9769320|PMID:9867219 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:2018 hyperinsulinism ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive PMID:10202168|PMID:10204114|PMID:1021286|PMID:10338089|PMID:10426386|PMID:10447255|PMID:10487673|PMID:10615958|PMID:10685979|PMID:10685980|PMID:10720932|PMID:10828824|PMID:10857971|PMID:10923633|PMID:10993895|PMID:11226335|PMID:11272143|PMID:11318841|PMID:11395395|PMID:11457841|PMID:11692183|PMID:11697420|PMID:11867634|PMID:11872696|PMID:11999683|PMID:12166651|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12941782|PMID:14593442|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15111507|PMID:15356046|PMID:15466080|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15842514|PMID:15855351|PMID:16199547|PMID:16357843|PMID:16367916|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16860127|PMID:16882742|PMID:16885549|PMID:16969006|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17539904|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:18025408|PMID:18025464|PMID:18073294|PMID:18339976|PMID:18346985|PMID:18414213|PMID:18436707|PMID:18493152|PMID:18596924|PMID:18599530|PMID:18758683|PMID:18767144|PMID:18796520|PMID:18981553|PMID:18988933|PMID:19151370|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:19933268|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20432820|PMID:20672374|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21321069|PMID:21378087|PMID:21411514|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21716120|PMID:21814221|PMID:21851374|PMID:21978130|PMID:21989597|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22562119|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22802363|PMID:22802590|PMID:22855730|PMID:22902787|PMID:23067144|PMID:23226049|PMID:23261959|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23744072|PMID:23771172|PMID:23771920|PMID:24145932|PMID:24332968|PMID:24401662|PMID:24434300|PMID:24616771|PMID:24645945|PMID:24686051|PMID:24768178|PMID:24814349|PMID:24937539|PMID:24959012|PMID:25008049|PMID:25117148|PMID:25201519|PMID:25306193|PMID:25518065|PMID:25525159|PMID:25555642|PMID:25584046|PMID:25639667|PMID:25741868|PMID:25765446|PMID:25781672|PMID:25871929|PMID:25931474|PMID:25955821|PMID:25972930|PMID:26180531|PMID:26221353|PMID:26246406|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26594346|PMID:26740944|PMID:26758964|PMID:26839896|PMID:27175728|PMID:27188453|PMID:27538677|PMID:27573238|PMID:27677908|PMID:27681997|PMID:27682711|PMID:27754802|PMID:27908292|PMID:27913849|PMID:28095440|PMID:28439221|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28663158|PMID:28701683|PMID:28757749|PMID:29207974|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30114684|PMID:30186238|PMID:30191644|PMID:30297969|PMID:30352420|PMID:30354297|PMID:30386300|PMID:30447144|PMID:30462810|PMID:30515958|PMID:31291970|PMID:31464105|PMID:31604004|PMID:32027066|PMID:32041611|PMID:32333556|PMID:32640185|PMID:32670376|PMID:32792356|PMID:32934261|PMID:32935446|PMID:33046911|PMID:33185579|PMID:33240318|PMID:33300273|PMID:33400071|PMID:33410562|PMID:34171966|PMID:34194474|PMID:34309670|PMID:34462253|PMID:34566892|PMID:34631896|PMID:34777243|PMID:35402560|PMID:7716548|PMID:8923011|PMID:9041101|PMID:9075812|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9642650|PMID:9648840|PMID:9769320|PMID:9867219 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:2018 hyperinsulinism susceptibility ISO RGD:733938 D RGD:9068941 20200609 RGD PMID:12199344|REF_RGD_ID:1598639 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3786 D RGD:9068941 20200609 RGD PMID:23149556|PMID:24602692|REF_RGD_ID:12790979|REF_RGD_ID:12791996 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:4724 brain edema ISO RGD:733938 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebral edema PMID:25741868|PMID:26467025|PMID:27677908|PMID:28492532 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:4724 brain edema treatment ISO RGD:3786 D RGD:9068941 20200609 RGD associated with Neoplasms, Experimental PMID:23633925|REF_RGD_ID:12791991 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:6000 congestive heart failure ISO RGD:733938 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:630 genetic disease ISO RGD:733938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:10204114|PMID:10447255|PMID:10487673|PMID:10923633|PMID:11272143|PMID:11999683|PMID:12941782|PMID:14692646|PMID:14715863|PMID:15356046|PMID:15562009|PMID:15579781|PMID:16357843|PMID:16429405|PMID:16860127|PMID:17378627|PMID:18339976|PMID:18414213|PMID:18493152|PMID:20672374|PMID:21716120|PMID:21851374|PMID:23345197|PMID:24401662|PMID:25306193|PMID:25972930|PMID:26467025|PMID:27175728|PMID:27754802|PMID:28492532|PMID:7716548|PMID:8923011|PMID:9618169|PMID:9648840 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:630 genetic disease ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10204114|PMID:10447255|PMID:10487673|PMID:10923633|PMID:11272143|PMID:11999683|PMID:12941782|PMID:14692646|PMID:14715863|PMID:15111507|PMID:15356046|PMID:15562009|PMID:15579781|PMID:15580558|PMID:15718250|PMID:15842514|PMID:16357843|PMID:16429405|PMID:16613899|PMID:16860127|PMID:16885549|PMID:17378627|PMID:18025408|PMID:18339976|PMID:18414213|PMID:18493152|PMID:18599530|PMID:18662362|PMID:18758683|PMID:18767144|PMID:18981553|PMID:19475716|PMID:20672374|PMID:20685672|PMID:20943779|PMID:21544516|PMID:21716120|PMID:21851374|PMID:21989597|PMID:22704848|PMID:22902787|PMID:23275527|PMID:23345197|PMID:24401662|PMID:24411943|PMID:24768178|PMID:24959012|PMID:25008049|PMID:25306193|PMID:25741868|PMID:25931474|PMID:25955821|PMID:25972930|PMID:26221353|PMID:26448950|PMID:26467025|PMID:27175728|PMID:27538677|PMID:27754802|PMID:27908292|PMID:27913849|PMID:28442472|PMID:28492532|PMID:31291970|PMID:31604004|PMID:32027066|PMID:32792356|PMID:33046911|PMID:33300273|PMID:34309670|PMID:35402560|PMID:7716548|PMID:8923011|PMID:9075812|PMID:9618169|PMID:9648840 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:8488 polyhydramnios ISO RGD:733938 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:8534 gastroesophageal reflux disease ISO RGD:733938 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9000039 Spinal Cord Injuries ISO RGD:733938 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:20410530|REF_RGD_ID:12790978 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9000039 Spinal Cord Injuries ISO RGD:736889 D RGD:9068941 20200609 RGD PMID:20410530|REF_RGD_ID:12790978 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:3786 D RGD:9068941 20200609 RGD PMID:20410530|PMID:25763638|REF_RGD_ID:12790978|REF_RGD_ID:12791993 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:3786 D RGD:9068941 20200609 RGD PMID:24114458|REF_RGD_ID:10003028 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9000998 Brain Injuries treatment ISO RGD:3786 D RGD:9068941 20200609 RGD PMID:21107131|REF_RGD_ID:12791995 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9001031 Retrognathia ISO RGD:733938 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: retrognathism PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9001250 Transient Neonatal Diabetes Mellitus, 3 ISO RGD:733938 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 3 PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16455067|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532|PMID:29893194|PMID:32935446|PMID:9867219 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9002221 Hyperplasia ISO RGD:733938 D RGD:9068941 20200609 RGD associated with Hyperinsulinism;DNA:missense mutations:exon:p.R1353P, p.R1421C, p.R1494W (human) PMID:9769320|REF_RGD_ID:2325205 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9002279 Permanent Neonatal Diabetes Mellitus 3 ISO RGD:733938 D RGD:7240710 20200520 OMIM 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9002279 Permanent Neonatal Diabetes Mellitus 3 ISO RGD:733938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 3 PMID:10204114|PMID:10426386|PMID:10685980|PMID:10857971|PMID:14715863|PMID:15513899|PMID:16357843|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16613899|PMID:16885549|PMID:17378627|PMID:17466004|PMID:17539904|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:18025408|PMID:18414213|PMID:18436707|PMID:18767144|PMID:18981553|PMID:19475716|PMID:19766903|PMID:20301620|PMID:20849526|PMID:21142918|PMID:21814221|PMID:21989597|PMID:22151254|PMID:22210575|PMID:22533711|PMID:22802590|PMID:23275527|PMID:23345197|PMID:25741868|PMID:25871929|PMID:25972930|PMID:26180531|PMID:26431509|PMID:26467025|PMID:27538677|PMID:27677908|PMID:28492532|PMID:28587604|PMID:28757749|PMID:29751826|PMID:30114684|PMID:30297969|PMID:30447144|PMID:30515958|PMID:31464105|PMID:31604004|PMID:32027066|PMID:32041611|PMID:32640185|PMID:32792356|PMID:32893419|PMID:33400071|PMID:34171966|PMID:34194474|PMID:34462253|PMID:34777243|PMID:8923011|PMID:9536098 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9003816 Macrocephaly ISO RGD:733938 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9005129 Transient Neonatal Diabetes Mellitus, 2 ISO RGD:733938 D RGD:7240710 20180130 OMIM 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9005129 Transient Neonatal Diabetes Mellitus, 2 ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 2 PMID:10204114|PMID:10338089|PMID:10426386|PMID:10447255|PMID:10487673|PMID:10685980|PMID:10720932|PMID:10857971|PMID:10923633|PMID:11272143|PMID:11867634|PMID:11999683|PMID:12166651|PMID:12784138|PMID:12941782|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15111507|PMID:15356046|PMID:15466080|PMID:15562009|PMID:15579781|PMID:15580558|PMID:15718250|PMID:15842514|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16367916|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16613899|PMID:16860127|PMID:16882742|PMID:16885549|PMID:17236890|PMID:17378627|PMID:17389331|PMID:17446535|PMID:17466004|PMID:17539904|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:17957187|PMID:18025408|PMID:18025464|PMID:18073294|PMID:18339976|PMID:18346985|PMID:18414213|PMID:18436707|PMID:18493152|PMID:18596924|PMID:18599530|PMID:18758683|PMID:18767144|PMID:18796520|PMID:18981553|PMID:18988933|PMID:19151370|PMID:19475716|PMID:19766903|PMID:19933268|PMID:20427569|PMID:20432820|PMID:20672374|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20922570|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21321069|PMID:21378087|PMID:21411514|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21674179|PMID:21716120|PMID:21814221|PMID:21851374|PMID:21978130|PMID:21989597|PMID:22151254|PMID:22210575|PMID:22451668|PMID:22533711|PMID:22562119|PMID:22704848|PMID:22749773|PMID:22802363|PMID:22855730|PMID:22902787|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23506826|PMID:23652837|PMID:23744072|PMID:23798684|PMID:23807917|PMID:24033266|PMID:24080777|PMID:24332968|PMID:24401662|PMID:24434300|PMID:24616771|PMID:24622368|PMID:24645945|PMID:24750227|PMID:24768178|PMID:24814349|PMID:24937539|PMID:24959012|PMID:25008049|PMID:25117148|PMID:25201519|PMID:25306193|PMID:25518065|PMID:25525159|PMID:25555642|PMID:25584046|PMID:25720052|PMID:25741868|PMID:25765446|PMID:25871929|PMID:25931474|PMID:25955821|PMID:25972930|PMID:26180531|PMID:26221353|PMID:26316440|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26545620|PMID:26740944|PMID:26758964|PMID:26839896|PMID:27175728|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27677908|PMID:27681997|PMID:27682711|PMID:27754802|PMID:27908292|PMID:27913849|PMID:28270372|PMID:28346775|PMID:28442472|PMID:28492532|PMID:28529015|PMID:28587604|PMID:28663158|PMID:28701683|PMID:28757749|PMID:29127764|PMID:29207974|PMID:29216354|PMID:29644095|PMID:29751826|PMID:30098243|PMID:30186238|PMID:30191644|PMID:30297969|PMID:30352420|PMID:30354297|PMID:30386300|PMID:30395892|PMID:30447144|PMID:30462810|PMID:30515958|PMID:30977832|PMID:31002010|PMID:31264968|PMID:31291970|PMID:31595705|PMID:31604004|PMID:32027066|PMID:32041611|PMID:32376986|PMID:32640185|PMID:32670376|PMID:32792356|PMID:32893419|PMID:32928245|PMID:32934261|PMID:33046911|PMID:33300273|PMID:33400071|PMID:33410562|PMID:33728157|PMID:34171966|PMID:34194474|PMID:34309670|PMID:34462253|PMID:34631896|PMID:34777243|PMID:35402560|PMID:7716548|PMID:8650576|PMID:8923011|PMID:9075812|PMID:9382893|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9642650|PMID:9648840|PMID:9769320 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9005603 Muscle Hypotonia ISO RGD:733938 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9005749 Necrosis ISO RGD:3786 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries PMID:17657312|REF_RGD_ID:2301913 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9005930 Endotoxemia ISO RGD:3786 D RGD:9068941 20200609 RGD PMID:17285300|REF_RGD_ID:2301914 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9006009 Neonatal Hypoglycemia, Simulating Foetopathia Diabetica ISO RGD:733938 D RGD:8554872 20220705 ClinVar ClinVar Annotator: match by term: Neonatal hypoglycemia PMID:10857971|PMID:16885549|PMID:17466004|PMID:21814221|PMID:25741868|PMID:26467025|PMID:28492532 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9006257 Growth Disorders ISO RGD:733938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:733938 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Congenital hyperinsulinism | ClinVar Annotator: match by term: Familial hyperinsulinism | ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL PMID:10194514|PMID:10334322|PMID:10338089|PMID:10447255|PMID:10487673|PMID:10615958|PMID:10685980|PMID:10720932|PMID:10923633|PMID:11226335|PMID:11272143|PMID:11318841|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12784138|PMID:12941782|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15111507|PMID:15356046|PMID:15466080|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15807877|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16860127|PMID:16882742|PMID:16885549|PMID:16969006|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:18025408|PMID:18339976|PMID:18414213|PMID:18436707|PMID:18493152|PMID:18758683|PMID:18767144|PMID:18796520|PMID:18981553|PMID:18988933|PMID:19151370|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20432820|PMID:20672374|PMID:20685672|PMID:20799350|PMID:20943781|PMID:21199866|PMID:21321069|PMID:21378087|PMID:21716120|PMID:21835061|PMID:21851374|PMID:21968111|PMID:21989597|PMID:21992908|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22311976|PMID:22591706|PMID:22704848|PMID:22802590|PMID:22855730|PMID:23067144|PMID:23261959|PMID:23275527|PMID:23345197|PMID:23506826|PMID:23652837|PMID:23744072|PMID:23771172|PMID:24145932|PMID:24401662|PMID:24434300|PMID:24616771|PMID:24645945|PMID:24686051|PMID:24937539|PMID:25008049|PMID:25117148|PMID:25201519|PMID:25306193|PMID:25323548|PMID:25518065|PMID:25639667|PMID:25741868|PMID:25781672|PMID:25931474|PMID:25972930|PMID:26180531|PMID:26431509|PMID:26467025|PMID:26740944|PMID:27175728|PMID:27188453|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27754802|PMID:27810688|PMID:27908292|PMID:28270372|PMID:28439221|PMID:28442472|PMID:28492532|PMID:29082728|PMID:29893194|PMID:30114684|PMID:30186238|PMID:30352420|PMID:30354297|PMID:30386300|PMID:30395892|PMID:30462810|PMID:30487145|PMID:31218401|PMID:31464105|PMID:32027066|PMID:32670376|PMID:32792356|PMID:33046911|PMID:33240318|PMID:33410562|PMID:33587123|PMID:34566892|PMID:34764980|PMID:7716548|PMID:8751851|PMID:8923011|PMID:9041101|PMID:9536098|PMID:9618169|PMID:9648840|PMID:9867219 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9007096 Stroke ISO RGD:733938 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:17673715|REF_RGD_ID:2301906 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9007290 Traumatic Subarachnoid Hemorrhage treatment ISO RGD:3786 D RGD:9068941 20200609 RGD PMID:18854840|REF_RGD_ID:2325137 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9007661 Dwarfism ISO RGD:733938 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:736889 D RGD:9068941 20200609 RGD PMID:18316485|REF_RGD_ID:2301903 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9351 diabetes mellitus ISO RGD:733938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:10204114|PMID:10685979|PMID:10685980|PMID:10720932|PMID:10828824|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15562009|PMID:16357843|PMID:16416420|PMID:16613899|PMID:16885549|PMID:17236890|PMID:17389331|PMID:17446535|PMID:17668386|PMID:18025408|PMID:18025464|PMID:18346985|PMID:18414213|PMID:18599530|PMID:18981553|PMID:19342262|PMID:20685672|PMID:20799350|PMID:20943781|PMID:21214702|PMID:21378087|PMID:21989597|PMID:22210575|PMID:22562119|PMID:22855730|PMID:23093687|PMID:23226049|PMID:23275527|PMID:23345197|PMID:23771920|PMID:24622368|PMID:24768178|PMID:24814349|PMID:25306193|PMID:25525159|PMID:25555642|PMID:25741868|PMID:26467025|PMID:26839896|PMID:27271189|PMID:27538677|PMID:27681997|PMID:27908292|PMID:28095440|PMID:28346775|PMID:28492532|PMID:29207974|PMID:29216354|PMID:30487145|PMID:31002010|PMID:32027066|PMID:32041611|PMID:32640185|PMID:32792356|PMID:33013711|PMID:33300273|PMID:33587123|PMID:33606663|PMID:34631896|PMID:9618169|PMID:9648840 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733938 D RGD:7240710 20180130 OMIM 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733938 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10204114|PMID:10426386|PMID:10685980|PMID:11872696|PMID:12196481|PMID:12475776|PMID:15579791|PMID:15797964|PMID:15855351|PMID:16380471|PMID:16416420|PMID:16442101|PMID:16455067|PMID:16885549|PMID:17257281|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17539904|PMID:17823772|PMID:18025464|PMID:18414213|PMID:18596924|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20424228|PMID:20799350|PMID:20849526|PMID:20943779|PMID:21142918|PMID:21378087|PMID:21544516|PMID:21674179|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22704848|PMID:22855730|PMID:23275527|PMID:23345197|PMID:24401662|PMID:25306193|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29751826|PMID:30098243|PMID:30297969|PMID:30447144|PMID:30977832|PMID:31604004|PMID:31997554|PMID:32027066|PMID:32893419|PMID:34194474|PMID:8650576|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9648840|PMID:9867219 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733938 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10204114|PMID:10426386|PMID:10685980|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15807877|PMID:15855351|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17539904|PMID:17823772|PMID:18025408|PMID:18025464|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18981553|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21674179|PMID:21989597|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22704848|PMID:22855730|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24145932|PMID:24332968|PMID:24401662|PMID:25306193|PMID:25741868|PMID:25765446|PMID:26379717|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27538677|PMID:27908292|PMID:28492532|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30098243|PMID:30297969|PMID:30386300|PMID:30447144|PMID:30515958|PMID:30977832|PMID:31604004|PMID:31997554|PMID:32027066|PMID:32792356|PMID:32893419|PMID:32928245|PMID:33013711|PMID:33240318|PMID:33400071|PMID:33410562|PMID:34194474|PMID:34309670|PMID:35402560|PMID:8650576|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9648840|PMID:9867219 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus PMID:10204114|PMID:10426386|PMID:10685980|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15807877|PMID:15855351|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17539904|PMID:17823772|PMID:18025408|PMID:18025464|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18981553|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21674179|PMID:21989597|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22704848|PMID:22749773|PMID:22855730|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24145932|PMID:24332968|PMID:24401662|PMID:24622368|PMID:25306193|PMID:25741868|PMID:25765446|PMID:25972930|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27538677|PMID:27681997|PMID:27908292|PMID:28439221|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29127764|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30098243|PMID:30186238|PMID:30297969|PMID:30386300|PMID:30447144|PMID:30487145|PMID:30515958|PMID:30977832|PMID:31604004|PMID:31997554|PMID:32027066|PMID:32041611|PMID:32640185|PMID:32792356|PMID:32893419|PMID:32928245|PMID:33013711|PMID:33240318|PMID:33400071|PMID:33410562|PMID:33587123|PMID:34171966|PMID:34194474|PMID:34309670|PMID:34462253|PMID:35402560|PMID:8650576|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9648840|PMID:9867219 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus PMID:10204114|PMID:10426386|PMID:10685980|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15807877|PMID:15855351|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17539904|PMID:17823772|PMID:18025408|PMID:18025464|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18981553|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21674179|PMID:21989597|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22704848|PMID:22749773|PMID:22855730|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24145932|PMID:24332968|PMID:24401662|PMID:24622368|PMID:25306193|PMID:25741868|PMID:25765446|PMID:25972930|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27538677|PMID:27681997|PMID:27908292|PMID:27913849|PMID:28439221|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29127764|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30098243|PMID:30186238|PMID:30297969|PMID:30386300|PMID:30447144|PMID:30487145|PMID:30515958|PMID:30977832|PMID:31604004|PMID:31997554|PMID:32027066|PMID:32041611|PMID:32640185|PMID:32792356|PMID:32893419|PMID:32928245|PMID:33013711|PMID:33240318|PMID:33400071|PMID:33410562|PMID:33587123|PMID:34171966|PMID:34194474|PMID:34309670|PMID:34462253|PMID:35402560|PMID:8650576|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9648840|PMID:9867219 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:733938 D RGD:9068941 20200609 RGD PMID:15579791|REF_RGD_ID:1598640 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:733938 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.R248Q, p.K1521N, p.Y356C (human) PMID:18346985|REF_RGD_ID:2301901 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18025464 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9970 obesity ISO RGD:733938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Obesity PMID:15562009|PMID:16199547|PMID:17236890|PMID:20685672|PMID:23275527|PMID:23345197|PMID:24401662|PMID:25741868|PMID:26740944|PMID:28492532 12337896 ABCC8 ATP binding cassette subfamily C member 8 gene DOID:9993 hypoglycemia ISO RGD:733938 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:23275527|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 12337956 GPAM glycerol-3-phosphate acyltransferase, mitochondrial gene DOID:1184 nephrotic syndrome ISO RGD:61847 D RGD:9068941 20200609 RGD PMID:18614621|REF_RGD_ID:2313652 12337956 GPAM glycerol-3-phosphate acyltransferase, mitochondrial gene DOID:1909 melanoma ISO RGD:1345985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12337956 GPAM glycerol-3-phosphate acyltransferase, mitochondrial gene DOID:630 genetic disease ISO RGD:1345985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12337956 GPAM glycerol-3-phosphate acyltransferase, mitochondrial gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12337956 GPAM glycerol-3-phosphate acyltransferase, mitochondrial gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1345985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9452481 12337956 GPAM glycerol-3-phosphate acyltransferase, mitochondrial gene DOID:9970 obesity ISO RGD:61847 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreatic islet PMID:9032096|REF_RGD_ID:2313659 12337989 TNFRSF8 TNF receptor superfamily member 8 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:737226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12337989 TNFRSF8 TNF receptor superfamily member 8 gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10908157|PMID:17261581 12337989 TNFRSF8 TNF receptor superfamily member 8 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:737226 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12337989 TNFRSF8 TNF receptor superfamily member 8 gene DOID:0081267 graft-versus-host disease ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15322151 12337989 TNFRSF8 TNF receptor superfamily member 8 gene DOID:10283 prostate cancer ISO RGD:737226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12337989 TNFRSF8 TNF receptor superfamily member 8 gene DOID:12361 Graves' disease ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 12337989 TNFRSF8 TNF receptor superfamily member 8 gene DOID:12930 dilated cardiomyopathy ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 12337989 TNFRSF8 TNF receptor superfamily member 8 gene DOID:1790 malignant mesothelioma ISO RGD:737226 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 12337989 TNFRSF8 TNF receptor superfamily member 8 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29984229 12337989 TNFRSF8 TNF receptor superfamily member 8 gene DOID:3087 gingivitis ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9379333 12337989 TNFRSF8 TNF receptor superfamily member 8 gene DOID:3308 embryonal carcinoma ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9111512 12337989 TNFRSF8 TNF receptor superfamily member 8 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8811349 12337989 TNFRSF8 TNF receptor superfamily member 8 gene DOID:630 genetic disease ISO RGD:737226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12337989 TNFRSF8 TNF receptor superfamily member 8 gene DOID:820 myocarditis ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 12337989 TNFRSF8 TNF receptor superfamily member 8 gene DOID:8567 Hodgkin's lymphoma ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10908157|PMID:12358914|PMID:12453859|PMID:16879607|PMID:17261581|PMID:7621881|PMID:8701986 12337989 TNFRSF8 TNF receptor superfamily member 8 gene DOID:9000571 AIDS-Related Opportunistic Infections ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9379333 12337989 TNFRSF8 TNF receptor superfamily member 8 gene DOID:9001415 Mycobacterium Infections ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15316035 12337989 TNFRSF8 TNF receptor superfamily member 8 gene DOID:9002137 Infectious Ectromelia ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12235215 12337989 TNFRSF8 TNF receptor superfamily member 8 gene DOID:9002884 Emphysema ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29984229 12337989 TNFRSF8 TNF receptor superfamily member 8 gene DOID:9007355 Hashimoto Disease ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 12337989 TNFRSF8 TNF receptor superfamily member 8 gene DOID:9008217 Hemorrhage ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29984229 12337989 TNFRSF8 TNF receptor superfamily member 8 gene DOID:934 viral infectious disease ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769|PMID:9826579 12337989 TNFRSF8 TNF receptor superfamily member 8 gene DOID:9351 diabetes mellitus ISO RGD:737227 D RGD:9068941 20200609 RGD PMID:10192335|REF_RGD_ID:2312735 12338015 SEC24B SEC24 homolog B, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1319664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338044 SIK2 salt inducible kinase 2 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1346987 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 12338044 SIK2 salt inducible kinase 2 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1346987 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 12338044 SIK2 salt inducible kinase 2 gene DOID:1059 intellectual disability ISO RGD:1346987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12338044 SIK2 salt inducible kinase 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1346987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12338044 SIK2 salt inducible kinase 2 gene DOID:630 genetic disease ISO RGD:1346987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338044 SIK2 salt inducible kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1346987 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34491613 12338044 SIK2 salt inducible kinase 2 gene DOID:9000918 Disease Progression ISO RGD:1346987 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34491613 12338044 SIK2 salt inducible kinase 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1346987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12338044 SIK2 salt inducible kinase 2 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1346987 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 12338063 CDK11 cyclin dependent kinase 11 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12338063 CDK11 cyclin dependent kinase 11 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604656 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12338063 CDK11 cyclin dependent kinase 11 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1604656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12338063 CDK11 cyclin dependent kinase 11 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1604656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12338063 CDK11 cyclin dependent kinase 11 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1604656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12338063 CDK11 cyclin dependent kinase 11 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1604656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12338063 CDK11 cyclin dependent kinase 11 gene DOID:0111934 immunodeficiency 38 ISO RGD:1604656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12338063 CDK11 cyclin dependent kinase 11 gene DOID:0111935 immunodeficiency 16 ISO RGD:1604656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12338063 CDK11 cyclin dependent kinase 11 gene DOID:1826 epilepsy ISO RGD:1604656 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12338063 CDK11 cyclin dependent kinase 11 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12338063 CDK11 cyclin dependent kinase 11 gene DOID:630 genetic disease ISO RGD:1604656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338063 CDK11 cyclin dependent kinase 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12338063 CDK11 cyclin dependent kinase 11 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1604656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12338063 CDK11 cyclin dependent kinase 11 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1604656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12338100 ZNF768 zinc finger protein 768 gene DOID:630 genetic disease ISO RGD:1605951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338110 SHC1 SHC adaptor protein 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1346921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12338110 SHC1 SHC adaptor protein 1 gene DOID:0050851 glomerulosclerosis ameliorates ISO RGD:620446 D RGD:9068941 20210409 RGD PMID:27270176|REF_RGD_ID:12792230 12338110 SHC1 SHC adaptor protein 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1346921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12338110 SHC1 SHC adaptor protein 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1346921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12338110 SHC1 SHC adaptor protein 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1346921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12338110 SHC1 SHC adaptor protein 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1346921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12338110 SHC1 SHC adaptor protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:1551749 D RGD:9068941 20200609 RGD protein:increased phosphorylation:neuron PMID:15837797|REF_RGD_ID:1643185 12338110 SHC1 SHC adaptor protein 1 gene DOID:1168 familial hyperlipidemia ISO RGD:620446 D RGD:9068941 20200609 RGD PMID:15044008|REF_RGD_ID:1643177 12338110 SHC1 SHC adaptor protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1346921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12338110 SHC1 SHC adaptor protein 1 gene DOID:4195 hyperglycemia susceptibility ISO RGD:1551749 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:17360381|REF_RGD_ID:1643173 12338110 SHC1 SHC adaptor protein 1 gene DOID:5082 liver cirrhosis ISO RGD:1346921 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32659284 12338110 SHC1 SHC adaptor protein 1 gene DOID:5812 MHC class II deficiency ISO RGD:1346921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12338110 SHC1 SHC adaptor protein 1 gene DOID:630 genetic disease ISO RGD:1346921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338110 SHC1 SHC adaptor protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:620446 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:hepatocyte PMID:15375560|REF_RGD_ID:1643188 12338110 SHC1 SHC adaptor protein 1 gene DOID:9001542 Albuminuria ameliorates ISO RGD:620446 D RGD:9068941 20210409 RGD PMID:27270176|REF_RGD_ID:12792230 12338110 SHC1 SHC adaptor protein 1 gene DOID:9003936 Cardiomegaly ISO RGD:1346921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19168439 12338110 SHC1 SHC adaptor protein 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1551749 D RGD:9068941 20200609 RGD PMID:15998704|REF_RGD_ID:1643176 12338110 SHC1 SHC adaptor protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346921 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:25231249|PMID:32659284 12338110 SHC1 SHC adaptor protein 1 gene DOID:9007692 Insulin Resistance ISO RGD:1346921 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue PMID:17986714|REF_RGD_ID:1643171 12338110 SHC1 SHC adaptor protein 1 gene DOID:9008510 Chronic Hepatitis ISO RGD:620446 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:hepatocyte PMID:15375560|REF_RGD_ID:1643188 12338110 SHC1 SHC adaptor protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1346921 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast neoplasm 12338110 SHC1 SHC adaptor protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12338110 SHC1 SHC adaptor protein 1 gene DOID:9452 fatty liver disease ISO RGD:1346921 D RGD:9068941 20200609 RGD associated with Obesity PMID:17596878|REF_RGD_ID:1642523 12338110 Shc1 SHC adaptor protein 1 gene DOID:9003234 Hypertensive Nephropathy ISO RGD:620446 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:27270176|REF_RGD_ID:12792230 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:0050770 polycystic liver disease ISO RGD:11105 D RGD:9068941 20200609 RGD PMID:9988265|REF_RGD_ID:14402035 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:0050770 polycystic liver disease severity ISO RGD:11105 D RGD:9068941 20200609 RGD PMID:21685914|REF_RGD_ID:14402033 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:0070224 progressive familial intrahepatic cholestasis 4 ISO RGD:736706 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 4 PMID:25741868 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:0080322 polycystic kidney disease ISO RGD:736706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:10200984|PMID:10364515|PMID:10577909|PMID:10612835|PMID:10655152|PMID:10729710|PMID:10854095|PMID:10862097|PMID:10923038|PMID:10987650|PMID:11012875|PMID:11058904|PMID:11115377|PMID:11216660|PMID:11316854|PMID:11558899|PMID:11840199|PMID:11857740|PMID:11967008|PMID:12007219|PMID:12070253|PMID:12220456|PMID:12482949|PMID:12633844|PMID:12842373|PMID:15018634|PMID:15772804|PMID:15775720|PMID:15780078|PMID:16049073|PMID:16430766|PMID:1740684|PMID:17574468|PMID:17582161|PMID:18077784|PMID:18257781|PMID:18350644|PMID:18640754|PMID:18791038|PMID:18837007|PMID:19158373|PMID:19165178|PMID:19515475|PMID:19686598|PMID:19759016|PMID:20301424|PMID:20558538|PMID:20837139|PMID:20950398|PMID:20981092|PMID:21115670|PMID:21314639|PMID:21551026|PMID:21694639|PMID:21706482|PMID:21744088|PMID:22008521|PMID:22034641|PMID:22090377|PMID:22185115|PMID:22333914|PMID:22383692|PMID:22406737|PMID:22508176|PMID:22608885|PMID:22995991|PMID:23064367|PMID:23266634|PMID:23300259|PMID:23431072|PMID:23496908|PMID:23624871|PMID:23760289|PMID:23985799|PMID:24033266|PMID:24374109|PMID:24575920|PMID:24582653|PMID:24611717|PMID:24641620|PMID:24694054|PMID:24907393|PMID:25029430|PMID:25263802|PMID:25333066|PMID:25475747|PMID:25525159|PMID:25531466|PMID:25574838|PMID:25646624|PMID:25741868|PMID:25741892|PMID:25741893|PMID:25741900|PMID:25741910|PMID:25757501|PMID:25920554|PMID:26139440|PMID:26150605|PMID:26200945|PMID:26274329|PMID:26453610|PMID:26467025|PMID:26489027|PMID:26632257|PMID:26661679|PMID:26718059|PMID:26795593|PMID:26823553|PMID:26938784|PMID:26950445|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27577987|PMID:27753196|PMID:27782177|PMID:27835667|PMID:27843768|PMID:27884173|PMID:27894351|PMID:28378423|PMID:29038287|PMID:29270497|PMID:29326913|PMID:29338003|PMID:29529603|PMID:29590654|PMID:29606500|PMID:29633482|PMID:29687770|PMID:29801666|PMID:29860066|PMID:30042192|PMID:30093605|PMID:30293987|PMID:30333007|PMID:30526451|PMID:30647506|PMID:30816285|PMID:30820006|PMID:30847201|PMID:30927425|PMID:30989420|PMID:31027891|PMID:31056860|PMID:31079206|PMID:31157564|PMID:31160911|PMID:31317121|PMID:31514750|PMID:31730820|PMID:31738409|PMID:31740684|PMID:31807928|PMID:31844813|PMID:32176464|PMID:32203225|PMID:32358097|PMID:32381729|PMID:32398770|PMID:32457805|PMID:32939031|PMID:33111320|PMID:33168999|PMID:33226606|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33555573|PMID:33602752|PMID:33639313|PMID:33964006|PMID:34008892|PMID:34486251|PMID:34906502|PMID:35368817|PMID:7581371|PMID:8004675|PMID:8554072|PMID:8792818|PMID:8845849|PMID:8911610|PMID:9044320|PMID:9192675|PMID:9199561|PMID:9285784|PMID:9345095|PMID:9452060|PMID:9521593|PMID:9668165 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:0080322 polycystic kidney disease ISO RGD:736706 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:10200984|PMID:10364515|PMID:10577909|PMID:10612835|PMID:10655152|PMID:10729710|PMID:10854095|PMID:10862097|PMID:10923038|PMID:10987650|PMID:11012875|PMID:11058904|PMID:11115377|PMID:11216660|PMID:11316854|PMID:11558899|PMID:11840199|PMID:11857740|PMID:11967008|PMID:12007219|PMID:12070253|PMID:12220456|PMID:12482949|PMID:12633844|PMID:12842373|PMID:15018634|PMID:15772804|PMID:15775720|PMID:15780078|PMID:16049073|PMID:16430766|PMID:1740684|PMID:17574468|PMID:17582161|PMID:18077784|PMID:18257781|PMID:18350644|PMID:18381613|PMID:18640754|PMID:18791038|PMID:18837007|PMID:19158373|PMID:19165178|PMID:19515475|PMID:19686598|PMID:19759016|PMID:20301424|PMID:20558538|PMID:20837139|PMID:20950398|PMID:20981092|PMID:21115670|PMID:21314639|PMID:21551026|PMID:21694639|PMID:21706482|PMID:21744088|PMID:22008521|PMID:22034641|PMID:22090377|PMID:22185115|PMID:22333914|PMID:22383692|PMID:22406737|PMID:22508176|PMID:22608885|PMID:22995991|PMID:23064367|PMID:23266634|PMID:23300259|PMID:23431072|PMID:23496908|PMID:23624871|PMID:23760289|PMID:23985799|PMID:24033266|PMID:24374109|PMID:24575920|PMID:24582653|PMID:24611717|PMID:24641620|PMID:24694054|PMID:24907393|PMID:25029430|PMID:25263802|PMID:25333066|PMID:25475747|PMID:25525159|PMID:25531466|PMID:25574838|PMID:25646624|PMID:25741868|PMID:25741892|PMID:25741893|PMID:25741900|PMID:25741910|PMID:25757501|PMID:25920554|PMID:26139440|PMID:26150605|PMID:26200945|PMID:26274329|PMID:26453610|PMID:26467025|PMID:26489027|PMID:26632257|PMID:26661679|PMID:26718059|PMID:26795593|PMID:26823553|PMID:26938784|PMID:26940125|PMID:26950445|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27577987|PMID:27753196|PMID:27782177|PMID:27835667|PMID:27843768|PMID:27884173|PMID:27894351|PMID:28378423|PMID:29038287|PMID:29270497|PMID:29326913|PMID:29338003|PMID:29529603|PMID:29590654|PMID:29606500|PMID:29633482|PMID:29687770|PMID:29801666|PMID:29860066|PMID:30042192|PMID:30093605|PMID:30293987|PMID:30333007|PMID:30526451|PMID:30586318|PMID:30647506|PMID:30816285|PMID:30820006|PMID:30847201|PMID:30927425|PMID:30989420|PMID:31027891|PMID:31056860|PMID:31079206|PMID:31157564|PMID:31160911|PMID:31317121|PMID:31514750|PMID:31730820|PMID:31738409|PMID:31740684|PMID:31807928|PMID:31844813|PMID:32176464|PMID:32203225|PMID:32358097|PMID:32381729|PMID:32398770|PMID:32457805|PMID:32939031|PMID:33111320|PMID:33168999|PMID:33226606|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33555573|PMID:33602752|PMID:33639313|PMID:33964006|PMID:34008892|PMID:34486251|PMID:34906502|PMID:35368817|PMID:7581371|PMID:8004675|PMID:8554072|PMID:8792818|PMID:8845849|PMID:8911610|PMID:9044320|PMID:9192675|PMID:9199561|PMID:9285784|PMID:9345095|PMID:9452060|PMID:9521593|PMID:9668165 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:11112665|PMID:15024740|PMID:15874888|PMID:16114042|PMID:17287951|PMID:17304050|PMID:21309039|PMID:21520333|PMID:22903760|PMID:24789117|PMID:25741868|PMID:27406250|PMID:28492532|PMID:29432982|PMID:9829910 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:0110858 polycystic kidney disease 1 ISO RGD:736706 D RGD:7240710 20180725 OMIM 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:0110858 polycystic kidney disease 1 ISO RGD:736706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 1 PMID:10364515|PMID:10854095|PMID:11115377|PMID:12482949|PMID:15772804|PMID:16430766|PMID:17574468|PMID:17582161|PMID:21115670|PMID:22090377|PMID:22383692|PMID:22508176|PMID:23064367|PMID:23431072|PMID:23760289|PMID:24374109|PMID:24694054|PMID:25333066|PMID:25646624|PMID:25741868|PMID:26139440|PMID:26467025|PMID:26632257|PMID:26661679|PMID:26950445|PMID:27499327|PMID:27835667|PMID:29801666|PMID:30333007|PMID:31056860|PMID:31738409|PMID:32203225|PMID:32381729|PMID:33532864 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:0110860 polycystic kidney disease 3 ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 3 PMID:10364515|PMID:10854095|PMID:15772804|PMID:17582161|PMID:21115670|PMID:21694639|PMID:22090377|PMID:22383692|PMID:22508176|PMID:23431072|PMID:24374109|PMID:25333066|PMID:25646624|PMID:25741868|PMID:26139440|PMID:26467025|PMID:26489027|PMID:26632257|PMID:26661679|PMID:27499327|PMID:27835667|PMID:30333007|PMID:30847201|PMID:31317121|PMID:31730820|PMID:31740684|PMID:33532864 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:25741868|PMID:26467025|PMID:29100090 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:1074 kidney failure ISO RGD:736706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal failure 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:10763 hypertension ISO RGD:736706 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertension PMID:11115377|PMID:12482949|PMID:16430766|PMID:17574468|PMID:17582161|PMID:22508176|PMID:23064367|PMID:23431072|PMID:23760289|PMID:24694054|PMID:25333066|PMID:25741868|PMID:26467025|PMID:26632257|PMID:26950445|PMID:27499327|PMID:29801666|PMID:30333007|PMID:31056860|PMID:31738409|PMID:32203225|PMID:32381729|PMID:33532864 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:736706 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:12842373|REF_RGD_ID:1580867 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:11836 clubfoot ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:11105 D RGD:9068941 20220825 MouseDO 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:12215 oligohydramnios ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: anhydramnios PMID:25741868|PMID:35005812 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:13515 tuberous sclerosis ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis syndrome 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:1826 epilepsy ISO RGD:736706 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:2871 endometrial carcinoma ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:2975 cystic kidney disease ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal cyst PMID:11115377|PMID:11967008|PMID:19515475|PMID:22508176|PMID:25741868|PMID:26467025 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736706 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lymphangiomyomatosis PMID:25741868 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:4606 bile duct cancer ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:12007219|PMID:16430766|PMID:17574468|PMID:25741868|PMID:26467025|PMID:27782177 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:519 aortitis ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Large vessel vasculitis 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:576 proteinuria ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:25741868 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:630 genetic disease ISO RGD:736706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11012875|PMID:11115377|PMID:11857740|PMID:12842373|PMID:1740684|PMID:17574468|PMID:17582161|PMID:19165178|PMID:20950398|PMID:22383692|PMID:22508176|PMID:23300259|PMID:23431072|PMID:23985799|PMID:24374109|PMID:24582653|PMID:24641620|PMID:24694054|PMID:24907393|PMID:25491204|PMID:25646624|PMID:25741868|PMID:25920554|PMID:26139440|PMID:26150605|PMID:26274329|PMID:26453610|PMID:26467025|PMID:26632257|PMID:26795593|PMID:27165007|PMID:27499327|PMID:28378423|PMID:29801666|PMID:30333007|PMID:30989420|PMID:31027891|PMID:31056860|PMID:31514750|PMID:31740684|PMID:31807928|PMID:31844813|PMID:32398770|PMID:32457805|PMID:33226606|PMID:33532864|PMID:33639313|PMID:9345095 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:783 end stage renal disease ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stage 5 chronic kidney disease PMID:25741868 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:784 chronic kidney disease ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:10200984|PMID:10364515|PMID:10854095|PMID:10987650|PMID:11058904|PMID:11115377|PMID:11216660|PMID:11840199|PMID:11857740|PMID:11967008|PMID:12070253|PMID:12482949|PMID:15772804|PMID:16430766|PMID:17574468|PMID:17582161|PMID:18077784|PMID:18640754|PMID:18837007|PMID:19165178|PMID:19515475|PMID:20301424|PMID:20558538|PMID:20981092|PMID:21115670|PMID:22008521|PMID:22090377|PMID:22383692|PMID:22508176|PMID:22608885|PMID:23064367|PMID:23266634|PMID:23300259|PMID:23431072|PMID:23760289|PMID:24033266|PMID:24374109|PMID:24694054|PMID:25029430|PMID:25333066|PMID:25646624|PMID:25741868|PMID:26139440|PMID:26453610|PMID:26467025|PMID:26632257|PMID:26661679|PMID:26950445|PMID:27499327|PMID:27567292|PMID:27835667|PMID:27884173|PMID:27894351|PMID:29650765|PMID:29801666|PMID:30333007|PMID:31056860|PMID:31157564|PMID:31738409|PMID:32203225|PMID:32457805|PMID:33168999|PMID:33532864|PMID:9521593 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736706 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:10200984|PMID:10364515|PMID:10854095|PMID:10987650|PMID:11058904|PMID:11115377|PMID:11216660|PMID:11840199|PMID:11857740|PMID:11967008|PMID:12070253|PMID:12482949|PMID:15772804|PMID:16430766|PMID:17574468|PMID:17582161|PMID:18077784|PMID:18640754|PMID:18791038|PMID:18837007|PMID:19165178|PMID:19515475|PMID:20301424|PMID:20558538|PMID:20981092|PMID:21115670|PMID:22008521|PMID:22090377|PMID:22333914|PMID:22383692|PMID:22508176|PMID:22608885|PMID:23064367|PMID:23266634|PMID:23300259|PMID:23431072|PMID:23760289|PMID:23985799|PMID:24033266|PMID:24374109|PMID:24694054|PMID:25029430|PMID:25333066|PMID:25646624|PMID:25741868|PMID:26139440|PMID:26453610|PMID:26467025|PMID:26632257|PMID:26661679|PMID:26823553|PMID:26950445|PMID:27165007|PMID:27499327|PMID:27567292|PMID:27782177|PMID:27835667|PMID:27884173|PMID:27894351|PMID:28378423|PMID:29270497|PMID:29650765|PMID:29801666|PMID:30333007|PMID:31056860|PMID:31157564|PMID:31738409|PMID:31740684|PMID:32203225|PMID:32381729|PMID:32457805|PMID:33168999|PMID:33532864|PMID:9285784|PMID:9521593 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:898 autosomal dominant polycystic kidney disease severity ISO RGD:11105 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R3277C (mouse) PMID:23064367|REF_RGD_ID:7175280 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:736706 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic liver disease 1 PMID:17582161|PMID:21744088|PMID:22185115|PMID:25263802|PMID:25333066|PMID:25741868|PMID:26467025|PMID:31844813|PMID:33532864|PMID:9668165 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:736706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:9006205 Animal Disease Models ISO RGD:736706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25877301 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:9006554 Pancreatic Cyst ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic cysts PMID:25741868 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:9007583 Cysts ISO RGD:736706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21685914 12338149 PKD1 polycystin 1, transient receptor potential channel interacting gene DOID:9256 colorectal cancer ISO RGD:736706 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:25741868 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:0050852 limb ischemia ameliorates ISO RGD:1320241 D RGD:9068941 20221117 RGD PMID:35301145|REF_RGD_ID:155663375 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:0050852 limb ischemia ameliorates ISO RGD:1320242 D RGD:9068941 20221111 RGD PMID:22252294|REF_RGD_ID:155663358 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:0050852 limb ischemia exacerbates ISO RGD:1320242 D RGD:9068941 20221104 RGD PMID:20508179|REF_RGD_ID:155641249 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:0060227 Adams-Oliver syndrome ISO RGD:1320241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome PMID:26299364|PMID:29924900 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:0080322 polycystic kidney disease treatment ISO RGD:1309740 D RGD:9068941 20221217 RGD PMID:32685025|REF_RGD_ID:155791442 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:13025 retinopathy of prematurity treatment ISO RGD:1309740 D RGD:9068941 20221117 RGD PMID:30652694|REF_RGD_ID:155663485 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:1612 breast cancer disease_progression ISO RGD:1320241 D RGD:9068941 20221110 RGD PMID:20167860|REF_RGD_ID:155641260 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:1936 atherosclerosis ameliorates ISO RGD:1320242 D RGD:9068941 20221103 RGD PMID:22699504|REF_RGD_ID:155641244 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:1936 atherosclerosis treatment ISO RGD:1320242 D RGD:9068941 20221117 RGD PMID:30909142|REF_RGD_ID:155663380 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:224 transient cerebral ischemia ameliorates ISO RGD:1320242 D RGD:9068941 20221111 RGD PMID:31927543|REF_RGD_ID:155663354 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:224 transient cerebral ischemia disease_progression ISO RGD:1309740 D RGD:9068941 20221117 RGD PMID:30653356|REF_RGD_ID:155663383 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:224 transient cerebral ischemia treatment ISO RGD:1309740 D RGD:9068941 20221117 RGD PMID:30258350|REF_RGD_ID:155663419 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:264 hemangiopericytoma ISO RGD:1320241 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:anterior temporal lobe PMID:26951238|REF_RGD_ID:155663351 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:2717 Bloom syndrome ISO RGD:1320241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:3021 acute kidney failure ameliorates ISO RGD:1320242 D RGD:9068941 20221117 RGD PMID:19828677|REF_RGD_ID:155663373 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:3070 high grade glioma ameliorates ISO RGD:1320242 D RGD:9068941 20221217 RGD PMID:17183313|REF_RGD_ID:155791441 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:326 ischemia ISO RGD:1309740 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:skin,endothelial cells PMID:25834117|REF_RGD_ID:155663350 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:326 ischemia ameliorates ISO RGD:1320242 D RGD:9068941 20221111 RGD PMID:22252294|REF_RGD_ID:155663358 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:3910 lung adenocarcinoma treatment ISO RGD:1309740 D RGD:9068941 20221117 RGD PMID:33628824|REF_RGD_ID:155663482 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:4450 renal cell carcinoma treatment ISO RGD:1320241 D RGD:9068941 20221117 RGD PMID:25618828|REF_RGD_ID:155663382 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:4556 lung large cell carcinoma treatment ISO RGD:1309740 D RGD:9068941 20221117 RGD PMID:33628824|REF_RGD_ID:155663482 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:5241 hemangioblastoma ISO RGD:1320241 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:temporal lobe : PMID:27388534|REF_RGD_ID:155641257 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:5409 lung small cell carcinoma treatment ISO RGD:1309740 D RGD:9068941 20221117 RGD PMID:33628824|REF_RGD_ID:155663482 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:630 genetic disease ISO RGD:1320241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:6406 double outlet right ventricle susceptibility ISO RGD:1320242 D RGD:9068941 20221117 RGD PMID:34859965|REF_RGD_ID:155663381 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:6432 pulmonary hypertension ISO RGD:1320242 D RGD:9068941 20221110 RGD PMID:34739767|REF_RGD_ID:155646132 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:799 varicose veins ISO RGD:1320241 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:vein: PMID:26808710|REF_RGD_ID:11529441 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:8947 diabetic retinopathy ISO RGD:1320242 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:retina: PMID:30787185|REF_RGD_ID:155663348 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:8947 diabetic retinopathy severity ISO RGD:1320241 D RGD:9068941 20221111 RGD PMID:34362349|REF_RGD_ID:155663356 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:1320242 D RGD:9068941 20221103 RGD protein:increased expression:aorta PMID:22699504|REF_RGD_ID:155641244 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:9000713 Surgical Wound treatment ISO RGD:1309740 D RGD:9068941 20221110 RGD associated with type 1 diabetes mellitus; PMID:34256844|REF_RGD_ID:155641256 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:9000970 Focal Nodular Hyperplasia ISO RGD:1320241 D RGD:9068941 20221110 RGD mRNA:decreased expression:liver PMID:23870033|REF_RGD_ID:155646133 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:1309740 D RGD:9068941 20221201 RGD PMID:21063852|REF_RGD_ID:12859045 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:9001919 Vascular Neoplasms ISO RGD:1309740 D RGD:9068941 20221110 RGD PMID:20147986|REF_RGD_ID:155641259 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ameliorates ISO RGD:1320242 D RGD:9068941 20221201 RGD PMID:21813770|REF_RGD_ID:155663662 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:1309740 D RGD:9068941 20221201 RGD PMID:26670826|REF_RGD_ID:155663663 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:9003191 Vascular Malformations ISO RGD:1320241 D RGD:9068941 20221111 RGD protein:increased expression:intestine: PMID:24219762|REF_RGD_ID:155663361 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:9003191 Vascular Malformations ISO RGD:1320241 D RGD:9068941 20221111 RGD protein:increased expression:serum: PMID:21955427|REF_RGD_ID:155663363 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1320242 D RGD:9068941 20221111 RGD PMID:23188126|REF_RGD_ID:155663352 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:9004397 calcification of aortic valve ameliorates ISO RGD:1320242 D RGD:9068941 20221103 RGD PMID:22699504|REF_RGD_ID:155641244 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:9005333 Adams-Oliver Syndrome 6 ISO RGD:1320241 D RGD:7240710 20180130 OMIM 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:9005333 Adams-Oliver Syndrome 6 ISO RGD:1320241 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 6 PMID:25741868|PMID:26299364|PMID:28492532|PMID:29924900|PMID:32860008|PMID:616589 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:9005647 Experimental Autoimmune Uveitis disease_progression ISO RGD:1309740 D RGD:9068941 20221222 RGD PMID:31209505|REF_RGD_ID:155791448 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:9006151 Choroidal Neovascularization, Experimental treatment ISO RGD:1309740 D RGD:9068941 20221117 RGD PMID:21526177|REF_RGD_ID:155663484 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:1309740 D RGD:9068941 20221104 RGD PMID:32089723|REF_RGD_ID:155641250 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:9007730 Burns treatment ISO RGD:1309740 D RGD:9068941 20221117 RGD PMID:28319529|REF_RGD_ID:155663481 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:9008022 Temporomandibular Joint Osteoarthritis disease_progression ISO RGD:1309740 D RGD:9068941 20221217 RGD PMID:28147322|REF_RGD_ID:155791443 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1320241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:9256 colorectal cancer ISO RGD:1320241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:9351 diabetes mellitus ISO RGD:1309740 D RGD:9068941 20221110 RGD protein:increased expression:skin: PMID:30886104|REF_RGD_ID:155646129 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:9351 diabetes mellitus ISO RGD:1320242 D RGD:9068941 20221110 RGD protein:increased expression:skin: PMID:30886104|REF_RGD_ID:155646129 12338198 DLL4 delta like canonical Notch ligand 4 gene DOID:9351 diabetes mellitus ameliorates ISO RGD:1320242 D RGD:9068941 20221111 RGD PMID:29386132|REF_RGD_ID:155663360 12338213 SAMSN1 SAM domain, SH3 domain and nuclear localization signals 1 gene DOID:0080600 COVID-19 ISO RGD:1348552 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12338213 SAMSN1 SAM domain, SH3 domain and nuclear localization signals 1 gene DOID:10652 Alzheimer's disease ISO RGD:1348552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 12338213 SAMSN1 SAM domain, SH3 domain and nuclear localization signals 1 gene DOID:630 genetic disease ISO RGD:1348552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338213 SAMSN1 SAM domain, SH3 domain and nuclear localization signals 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12338238 NEK6 NIMA related kinase 6 gene DOID:630 genetic disease ISO RGD:1347059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338238 NEK6 NIMA related kinase 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12338259 LOC609816 protein pitchfork-like gene DOID:12849 autistic disorder ISO RGD:1604536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12338259 LOC609816 protein pitchfork-like gene DOID:630 genetic disease ISO RGD:1604536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338272 THUMPD3 THUMP domain containing 3 gene DOID:0060417 3p deletion syndrome ISO RGD:1348857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:21681106 12338272 THUMPD3 THUMP domain containing 3 gene DOID:2843 long QT syndrome ISO RGD:1348857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12338272 THUMPD3 THUMP domain containing 3 gene DOID:630 genetic disease ISO RGD:1348857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338272 THUMPD3 THUMP domain containing 3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1348857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12338292 CDK2AP2 cyclin dependent kinase 2 associated protein 2 gene DOID:1059 intellectual disability ISO RGD:1604051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12338292 CDK2AP2 cyclin dependent kinase 2 associated protein 2 gene DOID:630 genetic disease ISO RGD:1604051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338292 CDK2AP2 cyclin dependent kinase 2 associated protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12338292 CDK2AP2 cyclin dependent kinase 2 associated protein 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1604051 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12338292 CDK2AP2 cyclin dependent kinase 2 associated protein 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12338300 FAM163A family with sequence similarity 163 member A gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1605572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12338300 FAM163A family with sequence similarity 163 member A gene DOID:1540 parathyroid carcinoma ISO RGD:1605572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12338300 FAM163A family with sequence similarity 163 member A gene DOID:630 genetic disease ISO RGD:1605572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338300 FAM163A family with sequence similarity 163 member A gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12338300 FAM163A family with sequence similarity 163 member A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12338319 GGN gametogenetin gene DOID:630 genetic disease ISO RGD:1315571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338319 GGN gametogenetin gene DOID:9002042 Spermatogenic Failure 69 ISO RGD:1315571 D RGD:7240710 20220427 OMIM 12338319 GGN gametogenetin gene DOID:9002042 Spermatogenic Failure 69 ISO RGD:1315571 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 69 PMID:31985809|PMID:33108537 12338326 IL7 interleukin 7 gene DOID:0080600 COVID-19 ISO RGD:737457 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:31986264 12338326 IL7 interleukin 7 gene DOID:0080600 COVID-19 severity ISO RGD:737457 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 12338326 IL7 interleukin 7 gene DOID:0080642 Middle East respiratory syndrome onset ISO RGD:737458 D RGD:9068941 20200609 RGD mRNA:altered expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 12338326 IL7 interleukin 7 gene DOID:10603 glucose intolerance ISO RGD:737457 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20376352 12338326 IL7 interleukin 7 gene DOID:10652 Alzheimer's disease ISO RGD:737457 D RGD:9068941 20200609 RGD PMID:22571981|REF_RGD_ID:10402933 12338326 IL7 interleukin 7 gene DOID:2377 multiple sclerosis ISO RGD:737457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17660816 12338326 IL7 interleukin 7 gene DOID:2945 severe acute respiratory syndrome ISO RGD:737458 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 12338326 IL7 interleukin 7 gene DOID:3070 high grade glioma ISO RGD:2904 D RGD:9068941 20200609 RGD PMID:10078962|REF_RGD_ID:727266 12338326 IL7 interleukin 7 gene DOID:3388 periodontal disease ISO RGD:2904 D RGD:9068941 20200609 RGD PMID:20618701|REF_RGD_ID:5024938 12338326 IL7 interleukin 7 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:737457 D RGD:9068941 20220204 RGD PMID:21159243|REF_RGD_ID:151347686 12338326 IL7 interleukin 7 gene DOID:4195 hyperglycemia ISO RGD:737457 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20376352 12338326 IL7 interleukin 7 gene DOID:614 lymphopenia ISO RGD:737457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17151827 12338326 IL7 interleukin 7 gene DOID:630 genetic disease ISO RGD:737457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338326 IL7 interleukin 7 gene DOID:9000998 Brain Injuries ISO RGD:737457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 12338326 IL7 interleukin 7 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:737458 D RGD:9068941 20200609 RGD PMID:18992278|REF_RGD_ID:10402929 12338326 IL7 interleukin 7 gene DOID:9004283 Transplant Rejection ISO RGD:2904 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:17532783|REF_RGD_ID:10402939 12338326 IL7 interleukin 7 gene DOID:9004313 Epidermodysplasia Verruciformis 5 ISO RGD:737457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5 PMID:25981006 12338326 IL7 interleukin 7 gene DOID:9004313 Epidermodysplasia Verruciformis 5 susceptibility ISO RGD:737457 D RGD:7240710 20190502 OMIM 12338326 IL7 interleukin 7 gene DOID:9004657 Weight Gain ISO RGD:737457 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20376352 12338326 IL7 interleukin 7 gene DOID:9004914 Postmenopausal Osteoporosis treatment ISO RGD:737458 D RGD:9068941 20200609 RGD PMID:23662133|REF_RGD_ID:10402930 12338326 IL7 interleukin 7 gene DOID:9007692 Insulin Resistance ISO RGD:737457 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20376352 12338326 IL7 interleukin 7 gene DOID:9970 obesity ISO RGD:737457 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20376352 12338332 MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:0060067 Pearson syndrome ISO RGD:1343728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pearson syndrome 12338332 MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1343728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:11456298|PMID:14705112|PMID:17535832 12338332 MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:0111755 Leber hereditary optic neuropathy and dystonia ISO RGD:1343728 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dystonia familial, with visual failure and striatal lucencies PMID:17152068|PMID:17413873|PMID:19458970|PMID:25741868 12338332 MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:0112101 mitochondrial type mitochondrial complex I deficiency 1 ISO RGD:1343728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 PMID:11456298|PMID:14684687|PMID:14705112|PMID:14764913|PMID:15372108|PMID:17152068|PMID:17413873|PMID:17535832|PMID:19458970|PMID:25741868 12338332 MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:12858 Huntington's disease ISO RGD:620557 D RGD:9068941 20200609 RGD PMID:20480544|REF_RGD_ID:5687693 12338332 MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1343728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24088041|PMID:26633545 12338332 MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:12934 Kearns-Sayre syndrome ISO RGD:1343728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kearns-Sayre syndrome PMID:20301382 12338332 MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:14330 Parkinson's disease ISO RGD:1343728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, resistance to PMID:17066297|PMID:6343397 12338332 MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:1459 hypothyroidism ISO RGD:620557 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain, heart PMID:7763274|REF_RGD_ID:2302314 12338332 MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:3652 Leigh disease ISO RGD:1343728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:11456298|PMID:12227465|PMID:14684687|PMID:14705112|PMID:14764913|PMID:15372108|PMID:17066297|PMID:17152068|PMID:17413873|PMID:17535832|PMID:19458970|PMID:20301353|PMID:25118196|PMID:25741868|PMID:30143805|PMID:6343397 12338332 MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:700 mitochondrial metabolism disease ISO RGD:1343728 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:11456298|PMID:14684687|PMID:14705112|PMID:14764913|PMID:15372108|PMID:17152068|PMID:17413873|PMID:17535832|PMID:19458970|PMID:20301382|PMID:25741868 12338332 MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1343728 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia PMID:12227465|PMID:17152068|PMID:17413873|PMID:19458970|PMID:20301353|PMID:25741868|PMID:30143805 12338332 MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620557 D RGD:9068941 20200609 RGD PMID:20438613|REF_RGD_ID:5687694 12338332 MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1343728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:11456298|PMID:14684687|PMID:14705112|PMID:14764913|PMID:15372108|PMID:17152068|PMID:17413873|PMID:17535832|PMID:19458970|PMID:25741868 12338332 MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:9007385 Mitochondrial Encephalopathy ISO RGD:1343728 D RGD:9068941 20200609 RGD DNA:mutations: :m. 10191T>C, 10158T>C(human) PMID:14705112|REF_RGD_ID:5507824 12338339 MAP3K21 mitogen-activated protein kinase kinase kinase 21 gene DOID:1540 parathyroid carcinoma ISO RGD:1601734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12338339 MAP3K21 mitogen-activated protein kinase kinase kinase 21 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12338355 PRR13 proline rich 13 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1604010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21157449 12338355 PRR13 proline rich 13 gene DOID:630 genetic disease ISO RGD:1604010 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338355 PRR13 proline rich 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12338355 PRR13 proline rich 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12338361 NISCH nischarin gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1315855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12338361 NISCH nischarin gene DOID:10754 otitis media ISO RGD:1616802 D RGD:9068941 20220825 MouseDO OMIM:166760 12338361 NISCH nischarin gene DOID:10763 hypertension ISO RGD:1306950 D RGD:9068941 20200609 RGD PMID:12021582|REF_RGD_ID:1581128 12338361 NISCH nischarin gene DOID:6000 congestive heart failure ISO RGD:1315855 D RGD:9068941 20200609 RGD PMID:12021582|REF_RGD_ID:1581128 12338361 NISCH nischarin gene DOID:630 genetic disease ISO RGD:1315855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338361 NISCH nischarin gene DOID:9006024 Hypotension ISO RGD:1315855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11486246|PMID:22613216 12338361 NISCH nischarin gene DOID:9007001 Bradycardia ISO RGD:1315855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11486246 12338361 NISCH nischarin gene DOID:9008939 Breast Neoplasms ISO RGD:1315855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29912916 12338425 MIR339-1 microRNA mir-339-1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1345058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12338425 MIR339-1 microRNA mir-339-1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1345058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 12338425 MIR339-1 microRNA mir-339-1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12338448 LOC106558999 zinc finger protein 677-like gene DOID:630 genetic disease ISO RGD:1604169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338461 TH tyrosine hydroxylase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:733897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:11921414|PMID:12610512|PMID:18162506|PMID:18171712|PMID:22572540|PMID:24275212|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30455893|PMID:30456822|PMID:33206859|PMID:35083481 12338461 TH tyrosine hydroxylase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12338461 TH tyrosine hydroxylase gene DOID:0050771 pheochromocytoma ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22569243 12338461 TH tyrosine hydroxylase gene DOID:0050835 generalized dystonia ISO RGD:733897 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Generalized dystonia PMID:22572540|PMID:24275212|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30455893|PMID:35083481 12338461 TH tyrosine hydroxylase gene DOID:0060001 withdrawal disorder ISO RGD:3853 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:brainstem (rat) PMID:20973778|REF_RGD_ID:5128830 12338461 TH tyrosine hydroxylase gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:733897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:11921414|PMID:12610512|PMID:18162506|PMID:18171712|PMID:22572540|PMID:24275212|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30455893|PMID:30456822|PMID:33206859|PMID:35083481 12338461 TH tyrosine hydroxylase gene DOID:0080773 delta beta-thalassemia ISO RGD:733897 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12338461 TH tyrosine hydroxylase gene DOID:0080855 Parkinsonism ISO RGD:3853 D RGD:9068941 20200609 RGD protein:decreased expression:striatum PMID:20561938|REF_RGD_ID:13524532 12338461 TH tyrosine hydroxylase gene DOID:0080855 Parkinsonism ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11246459|PMID:8817341 12338461 TH tyrosine hydroxylase gene DOID:0080855 Parkinsonism susceptibility ISO RGD:733897 D RGD:9068941 20200609 RGD Segawa syndrome,autosomal recessive, OMIM:605407;DNA:missense mutation:exon:p.Q381L PMID:7814018|REF_RGD_ID:1601634 12338461 TH tyrosine hydroxylase gene DOID:0090043 dystonia 5 ISO RGD:733897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:18554280|PMID:20056467|PMID:24753243|PMID:25741868|PMID:28087438|PMID:28492532|PMID:29405179|PMID:32185155 12338461 TH tyrosine hydroxylase gene DOID:0110741 type 1 diabetes mellitus 2 ISO RGD:733897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 PMID:18162506|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822 12338461 TH tyrosine hydroxylase gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:733897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822 12338461 TH tyrosine hydroxylase gene DOID:0111108 maturity-onset diabetes of the young type 10 ISO RGD:733897 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 10 PMID:12610512|PMID:18162506|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822|PMID:33206859 12338461 TH tyrosine hydroxylase gene DOID:0111969 immunodeficiency 39 ISO RGD:733897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12338461 TH tyrosine hydroxylase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12338461 TH tyrosine hydroxylase gene DOID:1059 intellectual disability ISO RGD:11414 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:cerebral cortex (mouse) PMID:18823370|REF_RGD_ID:2311578 12338461 TH tyrosine hydroxylase gene DOID:1059 intellectual disability ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12338461 TH tyrosine hydroxylase gene DOID:10762 portal hypertension ISO RGD:3853 D RGD:9068941 20200609 RGD mRNA:decreased expression:superior mesenteric artery (rat) PMID:19968782|REF_RGD_ID:5129480 12338461 TH tyrosine hydroxylase gene DOID:10763 hypertension ISO RGD:3853 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:16650497|REF_RGD_ID:1601630 12338461 TH tyrosine hydroxylase gene DOID:10763 hypertension ISO RGD:733897 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:27659729|PMID:32147540|PMID:32165127 12338461 TH tyrosine hydroxylase gene DOID:10763 hypertension susceptibility ISO RGD:733897 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:g.1090T>C rs2070762 (human) PMID:16636198|REF_RGD_ID:1601631 12338461 TH tyrosine hydroxylase gene DOID:10825 essential hypertension ISO RGD:733897 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 12338461 TH tyrosine hydroxylase gene DOID:114 heart disease ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9822156 12338461 TH tyrosine hydroxylase gene DOID:11612 polycystic ovary syndrome ISO RGD:3853 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:ovary PMID:15795180|REF_RGD_ID:5508374 12338461 TH tyrosine hydroxylase gene DOID:11717 neonatal diabetes ISO RGD:733897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal diabetes mellitus PMID:25741868 12338461 TH tyrosine hydroxylase gene DOID:12217 Lewy body dementia ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 12338461 TH tyrosine hydroxylase gene DOID:12700 hyperprolactinemia ISO RGD:3853 D RGD:9068941 20200609 RGD protein:increased tyrosine nitration:hypothalamus, median eminence (rat) PMID:21178126|REF_RGD_ID:5128768 12338461 TH tyrosine hydroxylase gene DOID:12700 hyperprolactinemia treatment ISO RGD:3853 D RGD:9068941 20200609 RGD PMID:26297122|REF_RGD_ID:13506955 12338461 TH tyrosine hydroxylase gene DOID:14330 Parkinson's disease ISO RGD:11414 D RGD:9068941 20200609 RGD protein:decreased expression:substantia nigra (mouse) PMID:21323909|REF_RGD_ID:5128616 12338461 TH tyrosine hydroxylase gene DOID:14330 Parkinson's disease ISO RGD:3853 D RGD:9068941 20200609 RGD PMID:2573072|REF_RGD_ID:5129120 12338461 TH tyrosine hydroxylase gene DOID:14330 Parkinson's disease ISO RGD:3853 D RGD:9068941 20200609 RGD protein:decreased expression:midbrain, neuron (rat) PMID:21376343|REF_RGD_ID:5128607 12338461 TH tyrosine hydroxylase gene DOID:14330 Parkinson's disease ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 12338461 TH tyrosine hydroxylase gene DOID:14330 Parkinson's disease ISO RGD:733897 D RGD:9068941 20200609 RGD human gene in a rat model PMID:9853519|REF_RGD_ID:5129121 12338461 TH tyrosine hydroxylase gene DOID:14330 Parkinson's disease ISO RGD:733897 D RGD:9068941 20200609 RGD protein:decreased expression:striatum (human) PMID:15857400|REF_RGD_ID:2289955 12338461 TH tyrosine hydroxylase gene DOID:1440 Machado-Joseph disease ISO RGD:3853 D RGD:9068941 20200609 RGD protein:decreased expression:substantia nigra (rat) PMID:18385100|REF_RGD_ID:5131159 12338461 TH tyrosine hydroxylase gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:733897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12338461 TH tyrosine hydroxylase gene DOID:1596 depressive disorder ISO RGD:3853 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus: PMID:24495952|REF_RGD_ID:9681459 12338461 TH tyrosine hydroxylase gene DOID:1826 epilepsy ISO RGD:3853 D RGD:9068941 20200609 RGD protein:decreased activity:cerebral cortex (rat) PMID:19605093|REF_RGD_ID:5128800 12338461 TH tyrosine hydroxylase gene DOID:2316 brain ischemia ISO RGD:3853 D RGD:9068941 20200609 RGD protein:decreased expression:solitary tract nucleus, medulla oblongata, locus coeruleus (rat) PMID:18356740|REF_RGD_ID:5129691 12338461 TH tyrosine hydroxylase gene DOID:3525 middle cerebral artery infarction ISO RGD:3853 D RGD:9068941 20200609 RGD protein:decreased expression:substantia nigra pars compacta, neuron (rat) PMID:21366664|REF_RGD_ID:5128609 12338461 TH tyrosine hydroxylase gene DOID:4676 uremia ISO RGD:3853 D RGD:9068941 20200609 RGD protein:decreased activity:brain (rat) PMID:2875142|REF_RGD_ID:5128603 12338461 TH tyrosine hydroxylase gene DOID:543 dystonia ISO RGD:733897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia 1 | ClinVar Annotator: match by term: Dystonic disorder PMID:10407773|PMID:11160968|PMID:11246459|PMID:15468323|PMID:16199547|PMID:17576681|PMID:17696123|PMID:20399390|PMID:20430833|PMID:20823027|PMID:21465550|PMID:21940685|PMID:22264700|PMID:23939262|PMID:24753243|PMID:25741868|PMID:26220941|PMID:26276013|PMID:26467025|PMID:27185167|PMID:27619486|PMID:28492532|PMID:29225908|PMID:29724574|PMID:29801903|PMID:32185155|PMID:33072517|PMID:34054692|PMID:7814018|PMID:8528210|PMID:8817341|PMID:9235905|PMID:9536098|PMID:9703425 12338461 TH tyrosine hydroxylase gene DOID:543 dystonia ISO RGD:733897 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:10407773|PMID:11160968|PMID:11246459|PMID:15468323|PMID:16199547|PMID:17576681|PMID:17696123|PMID:20399390|PMID:20430833|PMID:20823027|PMID:22264700|PMID:24753243|PMID:25741868|PMID:26220941|PMID:27185167|PMID:28492532|PMID:29225908|PMID:29724574|PMID:32185155|PMID:33072517|PMID:34054692|PMID:7814018|PMID:8528210|PMID:8817341|PMID:9536098|PMID:9703425 12338461 TH tyrosine hydroxylase gene DOID:5844 myocardial infarction no_association ISO RGD:733897 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:g.1170_1173dupTCAT (human) PMID:16139102|REF_RGD_ID:1580048 12338461 TH tyrosine hydroxylase gene DOID:6000 congestive heart failure ISO RGD:11414 D RGD:9068941 20200609 RGD PMID:7715703|REF_RGD_ID:737737 12338461 TH tyrosine hydroxylase gene DOID:6000 congestive heart failure ISO RGD:3853 D RGD:9068941 20200609 RGD protein:increased expression:paraventricular thalamic nucleus (rat) PMID:21287352|REF_RGD_ID:5128674 12338461 TH tyrosine hydroxylase gene DOID:630 genetic disease ISO RGD:733897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11160968|PMID:11246459|PMID:15468323|PMID:17696123|PMID:20399390|PMID:20430833|PMID:22264700|PMID:24753243|PMID:25741868|PMID:28492532|PMID:29225908|PMID:29724574|PMID:33072517|PMID:34054692 12338461 TH tyrosine hydroxylase gene DOID:684 hepatocellular carcinoma ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12338461 TH tyrosine hydroxylase gene DOID:769 neuroblastoma ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25174395 12338461 TH tyrosine hydroxylase gene DOID:8927 learning disability ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10984662|PMID:9822156 12338461 TH tyrosine hydroxylase gene DOID:9000998 Brain Injuries ISO RGD:3853 D RGD:9068941 20200609 RGD protein:decreased activity:striatum (rat) PMID:21047500|REF_RGD_ID:5128822 12338461 TH tyrosine hydroxylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3853 D RGD:9068941 20200609 RGD mRNA:decreased expression:superior mesenteric artery (rat) PMID:18457899|REF_RGD_ID:5129683 12338461 TH tyrosine hydroxylase gene DOID:9002188 Hypoinsulinemia ISO RGD:733897 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypoinsulinemia PMID:12610512|PMID:25741868|PMID:26467025|PMID:33206859 12338461 TH tyrosine hydroxylase gene DOID:9002362 Hyperkinesis ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9822156 12338461 TH tyrosine hydroxylase gene DOID:9002955 Nerve Degeneration ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12871582 12338461 TH tyrosine hydroxylase gene DOID:9003282 Hyperproinsulinemia ISO RGD:733897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperproinsulinemia PMID:25741868 12338461 TH tyrosine hydroxylase gene DOID:9003805 Catalepsy ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10984662|PMID:9822156 12338461 TH tyrosine hydroxylase gene DOID:9004009 Reperfusion Injury ISO RGD:733897 D RGD:9068941 20200609 RGD protein:increased expression:medulla oblongata (human) PMID:21061149|REF_RGD_ID:5128821 12338461 TH tyrosine hydroxylase gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:733897 D RGD:7240710 20180130 OMIM 12338461 TH tyrosine hydroxylase gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:733897 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:10407773|PMID:10585338|PMID:10753262|PMID:11160968|PMID:11246459|PMID:11281275|PMID:11921414|PMID:12610512|PMID:12891655|PMID:15468323|PMID:15505183|PMID:15747353|PMID:16049992|PMID:16199547|PMID:16376043|PMID:16643317|PMID:17576681|PMID:17696123|PMID:17698383|PMID:17698732|PMID:18058633|PMID:18162506|PMID:18171712|PMID:18554280|PMID:19120120|PMID:19224593|PMID:19282209|PMID:19491146|PMID:20056467|PMID:2019643|PMID:20198643|PMID:20301610|PMID:20399390|PMID:20430833|PMID:20492352|PMID:20809526|PMID:20823027|PMID:21937992|PMID:22264700|PMID:22572540|PMID:22583432|PMID:22815559|PMID:23480488|PMID:23762320|PMID:23939262|PMID:24033266|PMID:24275212|PMID:24753243|PMID:25181484|PMID:25224241|PMID:25542748|PMID:25741868|PMID:25758715|PMID:25910213|PMID:26101329|PMID:26220941|PMID:26276013|PMID:26467025|PMID:26686676|PMID:27165006|PMID:27185167|PMID:27619486|PMID:27934587|PMID:27973928|PMID:28087438|PMID:28186668|PMID:28492532|PMID:28667724|PMID:28726809|PMID:29126763|PMID:29225908|PMID:29405179|PMID:29724574|PMID:29801903|PMID:30455893|PMID:30456822|PMID:31130284|PMID:31273557|PMID:31392251|PMID:32005694|PMID:32185155|PMID:32395404|PMID:32872068|PMID:33072517|PMID:33206859|PMID:33233562|PMID:33742171|PMID:34054692|PMID:35083481|PMID:7789962|PMID:7814018|PMID:7910484|PMID:7964718|PMID:8528210|PMID:8817341|PMID:9235905|PMID:9536098|PMID:9703425|PMID:9732974|PMID:9754624 12338461 TH tyrosine hydroxylase gene DOID:9004407 Permanent Neonatal Diabetes Mellitus 4 ISO RGD:733897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 4 PMID:25741868 12338461 TH tyrosine hydroxylase gene DOID:9005166 Contusions ISO RGD:3853 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland (rat) PMID:18987458|REF_RGD_ID:5129532 12338461 TH tyrosine hydroxylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3853 D RGD:9068941 20200609 RGD protein:increased expression:seminal vesicle PMID:17151307|REF_RGD_ID:1601629 12338461 TH tyrosine hydroxylase gene DOID:9007279 Type 2 Diabetes Mellitus 1 ISO RGD:733897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 PMID:18162506|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822 12338461 TH tyrosine hydroxylase gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15659429 12338461 TH tyrosine hydroxylase gene DOID:9352 type 2 diabetes mellitus ISO RGD:733897 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822 12338461 TH tyrosine hydroxylase gene DOID:936 brain disease ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7842013 12338461 TH tyrosine hydroxylase gene DOID:9744 type 1 diabetes mellitus ISO RGD:733897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus PMID:11921414|PMID:18162506|PMID:18171712|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532 12338461 TH tyrosine hydroxylase gene DOID:9970 obesity resistance ISO RGD:733897 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:g.1170_1173dupTCAT (human) PMID:16251897|REF_RGD_ID:1601632 12338461 TH tyrosine hydroxylase gene DOID:9993 hypoglycemia ISO RGD:3853 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:adrenal gland (rat) PMID:16396986|REF_RGD_ID:5130724 12338477 TSPAN8 tetraspanin 8 gene DOID:11394 adult respiratory distress syndrome ISO RGD:736010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12338477 TSPAN8 tetraspanin 8 gene DOID:3007 breast ductal carcinoma ISO RGD:736010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12338477 TSPAN8 tetraspanin 8 gene DOID:630 genetic disease ISO RGD:736010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338477 TSPAN8 tetraspanin 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12338489 CDC40 cell division cycle 40 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1316032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital pontocerebellar hypoplasia PMID:33220177 12338489 CDC40 cell division cycle 40 gene DOID:0112326 pontocerebellar hypoplasia type 15 ISO RGD:1316032 D RGD:7240710 20210505 OMIM 12338489 CDC40 cell division cycle 40 gene DOID:0112326 pontocerebellar hypoplasia type 15 ISO RGD:1316032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 15 PMID:33220177 12338489 CDC40 cell division cycle 40 gene DOID:630 genetic disease ISO RGD:1316032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338509 CLYBL citramalyl-CoA lyase gene DOID:0110878 holoprosencephaly 5 ISO RGD:1312156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 12338509 CLYBL citramalyl-CoA lyase gene DOID:14701 propionic acidemia ISO RGD:1312156 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 12338509 CLYBL citramalyl-CoA lyase gene DOID:4621 holoprosencephaly ISO RGD:1312156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 12338509 CLYBL citramalyl-CoA lyase gene DOID:630 genetic disease ISO RGD:1312156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338509 CLYBL citramalyl-CoA lyase gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1312156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12338527 OTOS otospiralin gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1349689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12338527 OTOS otospiralin gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1349689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12338527 OTOS otospiralin gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1349689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 12338527 OTOS otospiralin gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1349689 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12338527 OTOS otospiralin gene DOID:1059 intellectual disability ISO RGD:1349689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12338527 OTOS otospiralin gene DOID:630 genetic disease ISO RGD:1349689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338527 OTOS otospiralin gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1349689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12338535 FAM3B FAM3 metabolism regulating signaling molecule B gene DOID:12849 autistic disorder ISO RGD:1323237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12338535 FAM3B FAM3 metabolism regulating signaling molecule B gene DOID:630 genetic disease ISO RGD:1323237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338535 FAM3B FAM3 metabolism regulating signaling molecule B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12338547 EFCAB9 EF-hand calcium binding domain 9 gene DOID:630 genetic disease ISO RGD:2301263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338558 GRN granulin precursor gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:1345254 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluids PMID:21613335|REF_RGD_ID:5509591 12338558 GRN granulin precursor gene DOID:0050784 primary progressive multiple sclerosis susceptibility ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2879096, rs4792938(human) PMID:20463744|REF_RGD_ID:5509596 12338558 GRN granulin precursor gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:1345254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 PMID:16862116|PMID:16950801|PMID:17698705|PMID:22608501|PMID:25741868|PMID:26467025|PMID:28492532 12338558 GRN granulin precursor gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1345254 D RGD:7240710 20180130 OMIM 12338558 GRN granulin precursor gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1345254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:12459547|PMID:12476321|PMID:16199547|PMID:16401619|PMID:16495329|PMID:16862115|PMID:16862116|PMID:1695080|PMID:16950801|PMID:16983677|PMID:16983685|PMID:17071927|PMID:17202431|PMID:17210807|PMID:17228326|PMID:17345602|PMID:17356379|PMID:17371905|PMID:17436289|PMID:17439980|PMID:17522386|PMID:17576681|PMID:17620546|PMID:17698705|PMID:17826340|PMID:17917583|PMID:17923627|PMID:17949857|PMID:17950702|PMID:17984093|PMID:18183624|PMID:18184915|PMID:18192287|PMID:18223198|PMID:18234697|PMID:18245784|PMID:18314228|PMID:18322394|PMID:18359860|PMID:18392865|PMID:18413474|PMID:18464284|PMID:18543312|PMID:18551524|PMID:18565828|PMID:18703462|PMID:18723524|PMID:18752597|PMID:18838661|PMID:18855025|PMID:19012866|PMID:19020205|PMID:19030774|PMID:19133655|PMID:19158106|PMID:19288468|PMID:19632744|PMID:19649643|PMID:19683260|PMID:19766663|PMID:19858458|PMID:19884572|PMID:20020531|PMID:20028451|PMID:20045477|PMID:20087814|PMID:20142524|PMID:20142525|PMID:20301545|PMID:20522652|PMID:20937952|PMID:20947212|PMID:21403024|PMID:21454553|PMID:21482928|PMID:21569259|PMID:21695656|PMID:21753165|PMID:21800185|PMID:21891869|PMID:22127750|PMID:22312439|PMID:22459598|PMID:22491866|PMID:22608501|PMID:22647257|PMID:22781549|PMID:22818528|PMID:22819134|PMID:22906081|PMID:22995991|PMID:23117491|PMID:23338682|PMID:23463024|PMID:23596077|PMID:23609919|PMID:23624518|PMID:23684369|PMID:23724906|PMID:23742080|PMID:23759146|PMID:23770887|PMID:23813535|PMID:23990795|PMID:24022032|PMID:24081456|PMID:24387985|PMID:24494724|PMID:24503614|PMID:24703252|PMID:24814951|PMID:25104557|PMID:25333068|PMID:25525159|PMID:25546130|PMID:25558820|PMID:25604855|PMID:25715738|PMID:25741868|PMID:25943890|PMID:26075876|PMID:26159191|PMID:26460020|PMID:26467025|PMID:26652843|PMID:26674655|PMID:26791154|PMID:26811050|PMID:26925509|PMID:27082848|PMID:27311648|PMID:27341800|PMID:27567822|PMID:27632209|PMID:27790088|PMID:27884173|PMID:27997711|PMID:28000352|PMID:28473694|PMID:28492532|PMID:28543767|PMID:28664756|PMID:29036611|PMID:29339765|PMID:29486463|PMID:29525178|PMID:29525180|PMID:29530724|PMID:29614680|PMID:29724592|PMID:29874572|PMID:30054184|PMID:30090657|PMID:30279455|PMID:30528841|PMID:30530974|PMID:30924900|PMID:30954774|PMID:30992141|PMID:31031559|PMID:31122931|PMID:31182772|PMID:31262553|PMID:31361008|PMID:31600775|PMID:31810826|PMID:31855245|PMID:31914217|PMID:31996268|PMID:32028661|PMID:32317127|PMID:32474471|PMID:32507413|PMID:32843152|PMID:33016921|PMID:33351065|PMID:33980708|PMID:34162492|PMID:34573259|PMID:6497355|PMID:9152110|PMID:9259373|PMID:9536098|PMID:9633693 12338558 GRN granulin precursor gene DOID:0080855 Parkinsonism ISO RGD:1345254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Parkinsonism 12338558 GRN granulin precursor gene DOID:0110732 neuronal ceroid lipofuscinosis 11 ISO RGD:1345254 D RGD:7240710 20180130 OMIM 12338558 GRN granulin precursor gene DOID:0110732 neuronal ceroid lipofuscinosis 11 ISO RGD:1345254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 11 PMID:16862116|PMID:16950801|PMID:17698705|PMID:18245784|PMID:18392865|PMID:18723524|PMID:20142524|PMID:20522652|PMID:20947212|PMID:21891869|PMID:22127750|PMID:22312439|PMID:22608501|PMID:23117491|PMID:25525159|PMID:25546130|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29614680|PMID:30279455|PMID:30528841|PMID:31122931 12338558 GRN granulin precursor gene DOID:10652 Alzheimer's disease ISO RGD:1345254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16199547|PMID:16862116|PMID:16950801|PMID:22608501|PMID:28492532|PMID:30279455 12338558 GRN granulin precursor gene DOID:10652 Alzheimer's disease onset ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA:deletion:exon:c.154delA(human) PMID:20142525|REF_RGD_ID:5509601 12338558 GRN granulin precursor gene DOID:10652 Alzheimer's disease severity ISO RGD:62275 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:microglia, neuron: PMID:19557827|REF_RGD_ID:5509606 12338558 GRN granulin precursor gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:62275 D RGD:9068941 20220825 MouseDO OMIM:125800 | OMIM:304800 12338558 GRN granulin precursor gene DOID:12849 autistic disorder ISO RGD:1345254 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:21892962|REF_RGD_ID:5509590 12338558 GRN granulin precursor gene DOID:1307 dementia ISO RGD:1345254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17436289|PMID:18543312 12338558 GRN granulin precursor gene DOID:1307 dementia onset ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs1990622(human) PMID:21220649|REF_RGD_ID:5509592 12338558 GRN granulin precursor gene DOID:14330 Parkinson's disease ISO RGD:1345254 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:23398167|REF_RGD_ID:10401642 12338558 GRN granulin precursor gene DOID:14330 Parkinson's disease no_association ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:*78C>T (rs5848) (human) PMID:19473366|REF_RGD_ID:10401644 12338558 GRN granulin precursor gene DOID:1824 status epilepticus ISO RGD:61983 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:23887054|REF_RGD_ID:10401660 12338558 GRN granulin precursor gene DOID:1936 atherosclerosis ISO RGD:1345254 D RGD:9068941 20200609 RGD protein:increased expression:smooth muscle cell, macrophage PMID:19321167|REF_RGD_ID:5509781 12338558 GRN granulin precursor gene DOID:2377 multiple sclerosis ISO RGD:1345254 D RGD:9068941 20200609 RGD protein:increased expression:macrophage, microglia PMID:21613335|REF_RGD_ID:5509591 12338558 GRN granulin precursor gene DOID:2378 relapsing-remitting multiple sclerosis disease_progression ISO RGD:1345254 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluids PMID:21613335|REF_RGD_ID:5509591 12338558 GRN granulin precursor gene DOID:3312 bipolar disorder ISO RGD:1345254 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:24581833|REF_RGD_ID:10401641 12338558 GRN granulin precursor gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:1345254 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, microglia PMID:21107132|REF_RGD_ID:5509593 12338558 GRN granulin precursor gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:62275 D RGD:9068941 20200609 RGD PMID:21107132|REF_RGD_ID:5509593 12338558 GRN granulin precursor gene DOID:332 amyotrophic lateral sclerosis onset ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:18184915|REF_RGD_ID:5509619 12338558 GRN granulin precursor gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:62275 D RGD:9068941 20200609 RGD PMID:23972823|REF_RGD_ID:10401661 12338558 GRN granulin precursor gene DOID:3526 cerebral infarction ISO RGD:1345254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ischemic stroke PMID:18723524|PMID:28492532 12338558 GRN granulin precursor gene DOID:630 genetic disease ISO RGD:1345254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12459547|PMID:16950801|PMID:17202431|PMID:17228326|PMID:17345602|PMID:17371905|PMID:17436289|PMID:17576681|PMID:17984093|PMID:18183624|PMID:18184915|PMID:18192287|PMID:18223198|PMID:18234697|PMID:18245784|PMID:18314228|PMID:18359860|PMID:18464284|PMID:18543312|PMID:18565828|PMID:18752597|PMID:18838661|PMID:19012866|PMID:19030774|PMID:19158106|PMID:19632744|PMID:19649643|PMID:20020531|PMID:20028451|PMID:20142524|PMID:21800185|PMID:22312439|PMID:22781549|PMID:22995991|PMID:23463024|PMID:23684369|PMID:23724906|PMID:23742080|PMID:23759146|PMID:23770887|PMID:23990795|PMID:24503614|PMID:25104557|PMID:25333068|PMID:25558820|PMID:25715738|PMID:25741868|PMID:26075876|PMID:26159191|PMID:26460020|PMID:26467025|PMID:26652843|PMID:26811050|PMID:26925509|PMID:27632209|PMID:27790088|PMID:27884173|PMID:27997711|PMID:28492532|PMID:28717666|PMID:29486463|PMID:29525178|PMID:29525180|PMID:30279455|PMID:32028661|PMID:32317127|PMID:32507413|PMID:9536098 12338558 GRN granulin precursor gene DOID:9000039 Spinal Cord Injuries ISO RGD:62275 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord: PMID:19946692|REF_RGD_ID:5509603 12338558 GRN granulin precursor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12338558 GRN granulin precursor gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1345254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20154673 12338558 GRN granulin precursor gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA, protein:mutations, decreased expression:plasma:multiple PMID:19158106|REF_RGD_ID:10401634 12338558 GRN granulin precursor gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA:frameshift mutation, missense mutations, nonsense mutation:exon:multiple PMID:17228326|REF_RGD_ID:10401647 12338558 GRN granulin precursor gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:22797721|REF_RGD_ID:10401637 12338558 GRN granulin precursor gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA:mutation:intron:IVS6-1G>A (human) PMID:17950702|REF_RGD_ID:10401638 12338558 GRN granulin precursor gene DOID:9002031 Frontotemporal Lobar Degeneration onset ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA:SNP: :rs9897526 (human) PMID:18192287|REF_RGD_ID:10401650 12338558 GRN granulin precursor gene DOID:9002457 Experimental Arthritis ISO RGD:62275 D RGD:9068941 20200609 RGD PMID:21393509|REF_RGD_ID:5509782 12338558 GRN granulin precursor gene DOID:9002955 Nerve Degeneration ISO RGD:1345254 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21820214 12338558 GRN granulin precursor gene DOID:9007096 Stroke ISO RGD:1345254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CEREBROVASCULAR ACCIDENT PMID:18723524|PMID:28492532 12338558 GRN granulin precursor gene DOID:9008293 Primary Progressive Aphasia ISO RGD:1345254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Primary progressive aphasia PMID:12794388|PMID:16862116|PMID:16950801|PMID:17202431|PMID:17210807|PMID:17439980|PMID:17522386|PMID:17698705|PMID:18183624|PMID:18245784|PMID:18392865|PMID:18551524|PMID:20087814|PMID:20142524|PMID:20522652|PMID:20947212|PMID:21454553|PMID:21482928|PMID:21891869|PMID:22127750|PMID:22608501|PMID:25741868|PMID:26467025|PMID:26791154|PMID:28492532|PMID:6497355 12338558 GRN granulin precursor gene DOID:9255 frontotemporal dementia ISO RGD:1345254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: GRN-Related Frontotemporal Dementia PMID:16862116|PMID:16950801|PMID:18234697|PMID:18723524|PMID:19158106|PMID:19683260|PMID:20045477|PMID:20142524|PMID:21403024|PMID:22491866|PMID:22608501|PMID:23463024|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29724592|PMID:30279455|PMID:30992141|PMID:31600775 12338575 SNTN sentan, cilia apical structure protein gene DOID:630 genetic disease ISO RGD:2306150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338582 ENTPD6 ectonucleoside triphosphate diphosphohydrolase 6 gene DOID:4440 seminoma ISO RGD:1345865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21519793 12338582 ENTPD6 ectonucleoside triphosphate diphosphohydrolase 6 gene DOID:630 genetic disease ISO RGD:1345865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338582 ENTPD6 ectonucleoside triphosphate diphosphohydrolase 6 gene DOID:9970 obesity ISO RGD:1345865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 12338615 CASP9 caspase 9 gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:61867 D RGD:9068941 20200609 RGD associated with gastric adenocarcinoma PMID:29588340|REF_RGD_ID:13792594 12338615 CASP9 caspase 9 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:69147 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12338615 CASP9 caspase 9 gene DOID:0080855 Parkinsonism treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:26612350|REF_RGD_ID:13503344 12338615 CASP9 caspase 9 gene DOID:1002 endometritis treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:26920733|REF_RGD_ID:13782281 12338615 CASP9 caspase 9 gene DOID:104 bacterial infectious disease ISO RGD:62159 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:16443785|REF_RGD_ID:2311430 12338615 CASP9 caspase 9 gene DOID:10534 stomach cancer treatment ISO RGD:69147 D RGD:9068941 20210618 RGD human cells in mouse model PMID:29408335|PMID:32106377|REF_RGD_ID:127284846|REF_RGD_ID:127284886 12338615 CASP9 caspase 9 gene DOID:10652 Alzheimer's disease ISO RGD:69147 D RGD:9068941 20200609 RGD PMID:12633148|REF_RGD_ID:13782269 12338615 CASP9 caspase 9 gene DOID:10652 Alzheimer's disease treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:29777699|REF_RGD_ID:13782186 12338615 CASP9 caspase 9 gene DOID:10763 hypertension ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:27929425|REF_RGD_ID:13782308 12338615 CASP9 caspase 9 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:69147 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.Q221R (rs1052576) (human) PMID:19252927|REF_RGD_ID:2315930 12338615 CASP9 caspase 9 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:69147 D RGD:9068941 20200609 RGD DNA:polymorphism, deletion: :1263A>G, 293del (human) PMID:19412632|REF_RGD_ID:2315929 12338615 CASP9 caspase 9 gene DOID:114 heart disease ISO RGD:61867 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased activation:heart PMID:15805231|REF_RGD_ID:2311320 12338615 CASP9 caspase 9 gene DOID:114 heart disease ISO RGD:61867 D RGD:9068941 20200609 RGD associated with Multiple Trauma PMID:28825094|REF_RGD_ID:13782301 12338615 CASP9 caspase 9 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:26431790|REF_RGD_ID:11537057 12338615 CASP9 caspase 9 gene DOID:12337 varicocele ISO RGD:61867 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:19145435|REF_RGD_ID:2311432 12338615 CASP9 caspase 9 gene DOID:12858 Huntington's disease severity ISO RGD:62159 D RGD:9068941 20200609 RGD protein:increased expression:striatum: PMID:12095160|REF_RGD_ID:13432083 12338615 CASP9 caspase 9 gene DOID:12858 Huntington's disease severity ISO RGD:69147 D RGD:9068941 20200609 RGD protein:increased expression:caudate nucleus: PMID:12095160|REF_RGD_ID:13432083 12338615 CASP9 caspase 9 gene DOID:12930 dilated cardiomyopathy ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:26004897|REF_RGD_ID:13782348 12338615 CASP9 caspase 9 gene DOID:1312 focal segmental glomerulosclerosis treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:28245472|REF_RGD_ID:13782344 12338615 CASP9 caspase 9 gene DOID:14330 Parkinson's disease ISO RGD:69147 D RGD:9068941 20200609 RGD protein:increased activity:blood, leukocyte PMID:16505307|REF_RGD_ID:13503345 12338615 CASP9 caspase 9 gene DOID:1612 breast cancer ISO RGD:69147 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast PMID:17011986|REF_RGD_ID:2290492 12338615 CASP9 caspase 9 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:69147 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-1263A>G (human) PMID:20357690|REF_RGD_ID:13451540 12338615 CASP9 caspase 9 gene DOID:1793 pancreatic cancer treatment ISO RGD:69147 D RGD:9068941 20200609 RGD PMID:19209030|REF_RGD_ID:13462046 12338615 CASP9 caspase 9 gene DOID:2055 post-traumatic stress disorder ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:25331812|REF_RGD_ID:13782181 12338615 CASP9 caspase 9 gene DOID:224 transient cerebral ischemia ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:21712070|REF_RGD_ID:10053706 12338615 CASP9 caspase 9 gene DOID:224 transient cerebral ischemia ISO RGD:61867 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:neocortex PMID:15246841|REF_RGD_ID:2311321 12338615 CASP9 caspase 9 gene DOID:224 transient cerebral ischemia ISO RGD:69147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11333366 12338615 CASP9 caspase 9 gene DOID:2316 brain ischemia ISO RGD:69147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11756504 12338615 CASP9 caspase 9 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:69147 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 12338615 CASP9 caspase 9 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:61867 D RGD:9068941 20200609 RGD protein:increased activity:spinal cord PMID:16847061|REF_RGD_ID:2311466 12338615 CASP9 caspase 9 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:26868427|REF_RGD_ID:13782346 12338615 CASP9 caspase 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:69147 D RGD:9068941 20200609 RGD DNA, mRNA:SNP, decreased expression:exon, lung:rs1052576 (human) PMID:17285546|REF_RGD_ID:13434907 12338615 CASP9 caspase 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:69147 D RGD:9068941 20200609 RGD DNA:SNP: :rs4645981 (human) PMID:20661084|REF_RGD_ID:13434908 12338615 CASP9 caspase 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:69147 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:16231180|REF_RGD_ID:13434909 12338615 CASP9 caspase 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:69147 D RGD:9068941 20200609 RGD mRNA:splice variant:lung PMID:20972334|REF_RGD_ID:9999427 12338615 CASP9 caspase 9 gene DOID:3908 lung non-small cell carcinoma no_association ISO RGD:69147 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs1052571 (human) PMID:17285546|REF_RGD_ID:13434907 12338615 CASP9 caspase 9 gene DOID:5082 liver cirrhosis ISO RGD:62159 D RGD:9068941 20200609 RGD associated with cholestasis PMID:29105510|REF_RGD_ID:13782297 12338615 CASP9 caspase 9 gene DOID:5199 ureteral obstruction treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:29781318|REF_RGD_ID:13782341 12338615 CASP9 caspase 9 gene DOID:5327 retinal detachment ISO RGD:69147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18497877 12338615 CASP9 caspase 9 gene DOID:5434 scrapie ISO RGD:62159 D RGD:9068941 20200609 RGD PMID:27921253|REF_RGD_ID:13782156 12338615 CASP9 caspase 9 gene DOID:557 kidney disease ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:29257007|REF_RGD_ID:13782293 12338615 CASP9 caspase 9 gene DOID:574 peripheral nervous system disease ISO RGD:69147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 12338615 CASP9 caspase 9 gene DOID:630 genetic disease ISO RGD:69147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338615 CASP9 caspase 9 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:29133031|REF_RGD_ID:13782296 12338615 CASP9 caspase 9 gene DOID:83 cataract treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:23508955|REF_RGD_ID:13782357 12338615 CASP9 caspase 9 gene DOID:8398 osteoarthritis treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:29138829|REF_RGD_ID:13782343 12338615 CASP9 caspase 9 gene DOID:863 nervous system disease ISO RGD:69147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11150333 12338615 CASP9 caspase 9 gene DOID:8947 diabetic retinopathy ISO RGD:69147 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased activation:retina PMID:18369072|REF_RGD_ID:2311244 12338615 CASP9 caspase 9 gene DOID:9000039 Spinal Cord Injuries ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:21748659|REF_RGD_ID:10053608 12338615 CASP9 caspase 9 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:27339639|REF_RGD_ID:13782345 12338615 CASP9 caspase 9 gene DOID:9000081 Lymphatic Metastasis ISO RGD:69147 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP:exon:rs1052576 (human) PMID:17285546|REF_RGD_ID:13434907 12338615 CASP9 caspase 9 gene DOID:9000197 Edema ISO RGD:69147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 12338615 CASP9 caspase 9 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:26163325|REF_RGD_ID:13782347 12338615 CASP9 caspase 9 gene DOID:9000808 Hypercholesterolemia ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:24484682|REF_RGD_ID:13782354 12338615 CASP9 caspase 9 gene DOID:9000855 Experimental Radiation Injuries treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:24939579|REF_RGD_ID:13782350 12338615 CASP9 caspase 9 gene DOID:9001390 Testis Reperfusion Injury ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:26754107|REF_RGD_ID:11555349 12338615 CASP9 caspase 9 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:23364428|REF_RGD_ID:13782358 12338615 CASP9 caspase 9 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:61867 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:29606028|PMID:30038056|REF_RGD_ID:13782342|REF_RGD_ID:13792586 12338615 CASP9 caspase 9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12338615 CASP9 caspase 9 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:62159 D RGD:9068941 20200609 RGD PMID:23833961|REF_RGD_ID:13702874 12338615 CASP9 caspase 9 gene DOID:9002661 Diabetes Complications treatment ISO RGD:61867 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24252320|REF_RGD_ID:13782355 12338615 CASP9 caspase 9 gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:28096675|REF_RGD_ID:13782306 12338615 CASP9 caspase 9 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:61867 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:18521931|REF_RGD_ID:2311436 12338615 CASP9 caspase 9 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:23046993|REF_RGD_ID:13782359 12338615 CASP9 caspase 9 gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:61867 D RGD:9068941 20230128 RGD PMID:24089674|REF_RGD_ID:155882465 12338615 CASP9 caspase 9 gene DOID:9004009 Reperfusion Injury treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:29568770|REF_RGD_ID:13792595 12338615 CASP9 caspase 9 gene DOID:9004484 Sepsis treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:29180187|REF_RGD_ID:13782295 12338615 CASP9 caspase 9 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:26238033|REF_RGD_ID:13782174 12338615 CASP9 caspase 9 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:17297389|REF_RGD_ID:2315933 12338615 CASP9 caspase 9 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:62159 D RGD:9068941 20200609 RGD PMID:20012353|REF_RGD_ID:2315928 12338615 CASP9 caspase 9 gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:20732338|REF_RGD_ID:10053708 12338615 CASP9 caspase 9 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:26699876|REF_RGD_ID:13782283 12338615 CASP9 caspase 9 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61867 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:pituitary gland PMID:15976052|REF_RGD_ID:2311319 12338615 CASP9 caspase 9 gene DOID:9005930 Endotoxemia treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:23214195|REF_RGD_ID:10400903 12338615 CASP9 caspase 9 gene DOID:9006937 NSAID-Enteropathy ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:25014874|REF_RGD_ID:13782349 12338615 CASP9 caspase 9 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:28992627|REF_RGD_ID:13782299 12338615 CASP9 caspase 9 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:23946597|REF_RGD_ID:13782356 12338615 CASP9 caspase 9 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:61867 D RGD:9068941 20200609 RGD protein:increased activity:cardiomyocyte,endothelial cell PMID:11934844|REF_RGD_ID:13782263 12338615 CASP9 caspase 9 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14998631 12338615 CASP9 caspase 9 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:62159 D RGD:9068941 20230429 RGD PMID:30259997|REF_RGD_ID:329337366 12338615 CASP9 caspase 9 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:29538428|REF_RGD_ID:13782276 12338615 CASP9 caspase 9 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:69147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 12338615 CASP9 caspase 9 gene DOID:9256 colorectal cancer ISO RGD:69147 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1263A>G (human) PMID:21538054|REF_RGD_ID:13210582 12338615 CASP9 caspase 9 gene DOID:9256 colorectal cancer no_association ISO RGD:69147 D RGD:9068941 20200609 RGD DNA:SNPs::rs4646077, rs4233532, rs2881930 (human) PMID:23303631|REF_RGD_ID:13210584 12338615 CASP9 caspase 9 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69147 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:16038259|REF_RGD_ID:2311246 12338615 CASP9 caspase 9 gene DOID:9744 type 1 diabetes mellitus ISO RGD:62159 D RGD:9068941 20200609 RGD PMID:14617576|REF_RGD_ID:2311322 12338615 CASP9 caspase 9 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69147 D RGD:9068941 20200609 RGD PMID:17880769|REF_RGD_ID:2311245 12338633 MRPL37 mitochondrial ribosomal protein L37 gene DOID:0080600 COVID-19 ISO RGD:1348769 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12338633 MRPL37 mitochondrial ribosomal protein L37 gene DOID:630 genetic disease ISO RGD:1348769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338644 XPR1 xenotropic and polytropic retrovirus receptor 1 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1315237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12338644 XPR1 xenotropic and polytropic retrovirus receptor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1315237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12338644 XPR1 xenotropic and polytropic retrovirus receptor 1 gene DOID:182 calcinosis ISO RGD:1315237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 12338644 XPR1 xenotropic and polytropic retrovirus receptor 1 gene DOID:1826 epilepsy ISO RGD:1315237 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12338644 XPR1 xenotropic and polytropic retrovirus receptor 1 gene DOID:630 genetic disease ISO RGD:1315237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12338644 XPR1 xenotropic and polytropic retrovirus receptor 1 gene DOID:679 basal ganglia disease ISO RGD:1315237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 12338644 XPR1 xenotropic and polytropic retrovirus receptor 1 gene DOID:9005299 Idiopathic Basal Ganglia Calcification 6 ISO RGD:1315237 D RGD:7240710 20180130 OMIM 12338644 XPR1 xenotropic and polytropic retrovirus receptor 1 gene DOID:9005299 Idiopathic Basal Ganglia Calcification 6 ISO RGD:1315237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 PMID:25741868|PMID:25938945|PMID:28492532|PMID:31003906|PMID:886353 12338644 XPR1 xenotropic and polytropic retrovirus receptor 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1315237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12338644 XPR1 xenotropic and polytropic retrovirus receptor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12338673 ZBTB6 zinc finger and BTB domain containing 6 gene DOID:630 genetic disease ISO RGD:1314374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338685 PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:0050545 visceral heterotaxy ISO RGD:1352736 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Situs ambiguus | ClinVar Annotator: match by term: Visceral heterotaxy 12338685 PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12338685 PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:630 genetic disease ISO RGD:1352736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27616478|PMID:28492532|PMID:31026592 12338685 PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:758 situs inversus ISO RGD:1352736 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Laterality sequence | ClinVar Annotator: match by term: Situs inversus PMID:25741868|PMID:27616478|PMID:30664273|PMID:32111882 12338685 PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:758 situs inversus susceptibility ISO RGD:1615749 D RGD:9068941 20221027 RGD PMID:20080492|REF_RGD_ID:155630601 12338685 PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:9000438 Subarachnoid Hemorrhage susceptibility ISO RGD:1352736 D RGD:9068941 20221027 RGD DNA:polymorphism:cds:p.Gly243Asp(human) PMID:16741147|REF_RGD_ID:155630602 12338685 PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:9007421 Visceral Heterotaxy 8, Autosomal ISO RGD:1352736 D RGD:7240710 20190315 OMIM 12338685 PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:9007421 Visceral Heterotaxy 8, Autosomal ISO RGD:1352736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 8, autosomal PMID:25741868|PMID:27616478|PMID:28492532|PMID:30664273|PMID:31026592|PMID:32111882|PMID:34008892 12338738 CLIC2 chloride intracellular channel 2 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1315278 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12338738 CLIC2 chloride intracellular channel 2 gene DOID:0050476 Barth syndrome ISO RGD:1315278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12338738 CLIC2 chloride intracellular channel 2 gene DOID:0050800 creatine transporter deficiency ISO RGD:1315278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12338738 CLIC2 chloride intracellular channel 2 gene DOID:0060828 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome ISO RGD:1315278 D RGD:7240710 20180130 OMIM 12338738 CLIC2 chloride intracellular channel 2 gene DOID:0060828 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome ISO RGD:1315278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome PMID:21630357|PMID:22814392|PMID:25741868 12338738 CLIC2 chloride intracellular channel 2 gene DOID:0111781 Waisman syndrome ISO RGD:1315278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset parkinsonism-intellectual disability syndrome PMID:25434005 12338738 CLIC2 chloride intracellular channel 2 gene DOID:0112003 immunodeficiency 33 ISO RGD:1315278 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12338738 CLIC2 chloride intracellular channel 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:1315278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12338738 CLIC2 chloride intracellular channel 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1315278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12338738 CLIC2 chloride intracellular channel 2 gene DOID:12849 autistic disorder ISO RGD:1315278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12338738 CLIC2 chloride intracellular channel 2 gene DOID:13628 favism ISO RGD:1315278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12338738 CLIC2 chloride intracellular channel 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1315278 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12338738 CLIC2 chloride intracellular channel 2 gene DOID:607 paraplegia ISO RGD:1315278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12338738 CLIC2 chloride intracellular channel 2 gene DOID:630 genetic disease ISO RGD:1315278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12338738 CLIC2 chloride intracellular channel 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12338738 CLIC2 chloride intracellular channel 2 gene DOID:9002720 Splenomegaly ISO RGD:1315278 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12338748 DGAT2L6 diacylglycerol O-acyltransferase 2 like 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12338748 DGAT2L6 diacylglycerol O-acyltransferase 2 like 6 gene DOID:10283 prostate cancer ISO RGD:1602812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12338748 DGAT2L6 diacylglycerol O-acyltransferase 2 like 6 gene DOID:12849 autistic disorder ISO RGD:1602812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12338748 DGAT2L6 diacylglycerol O-acyltransferase 2 like 6 gene DOID:630 genetic disease ISO RGD:1602812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338760 ZNF428 zinc finger protein 428 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1603271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12338760 ZNF428 zinc finger protein 428 gene DOID:5419 schizophrenia ISO RGD:1603271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12338760 ZNF428 zinc finger protein 428 gene DOID:630 genetic disease ISO RGD:1603271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338767 PHAF1 phagosome assembly factor 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12338767 PHAF1 phagosome assembly factor 1 gene DOID:0110255 cataract 5 multiple types ISO RGD:1604592 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 12338791 TAS2R10 taste 2 receptor member 10 gene DOID:630 genetic disease ISO RGD:1347690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338796 PCSK9 proprotein convertase subtilisin/kexin type 9 gene DOID:13810 familial hypercholesterolemia ISO RGD:731023 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10357843|PMID:10764678|PMID:11668641|PMID:12175777|PMID:12730697|PMID:14727156|PMID:14727179|PMID:15099351|PMID:15166014|PMID:15358785|PMID:15654334|PMID:15772090|PMID:15893176|PMID:16183066|PMID:16211558|PMID:16224054|PMID:16314194|PMID:16424354|PMID:16465619|PMID:16554528|PMID:16571601|PMID:16777760|PMID:16909389|PMID:16912035|PMID:16989838|PMID:17094996|PMID:17140581|PMID:17170371|PMID:17316651|PMID:17380167|PMID:17435765|PMID:17461796|PMID:17502126|PMID:17599443|PMID:17765244|PMID:17765246|PMID:17804797|PMID:17921436|PMID:17971861|PMID:18028451|PMID:18039650|PMID:18197702|PMID:18250299|PMID:18262190|PMID:18266662|PMID:18300938|PMID:18354102|PMID:18436227|PMID:18559913|PMID:18631360|PMID:18652535|PMID:18710658|PMID:18718593|PMID:18799458|PMID:19001363|PMID:19022446|PMID:19081568|PMID:19191301|PMID:19249440|PMID:19351729|PMID:19571328|PMID:19762784|PMID:19768174|PMID:19797716|PMID:19917273|PMID:20006333|PMID:20031607|PMID:20172854|PMID:20538126|PMID:20579540|PMID:20623344|PMID:20959675|PMID:21146822|PMID:21147780|PMID:21376320|PMID:21502677|PMID:21722902|PMID:21943799|PMID:22095935|PMID:22344438|PMID:22417841|PMID:22683120|PMID:22875854|PMID:22923420|PMID:22995991|PMID:23064986|PMID:23095242|PMID:23105118|PMID:23247049|PMID:23298392|PMID:23375686|PMID:23386946|PMID:23535506|PMID:23555291|PMID:23663650|PMID:23680767|PMID:23743349|PMID:23935525|PMID:24033266|PMID:24115837|PMID:24278757|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24785115|PMID:24793346|PMID:24808179|PMID:24859021|PMID:25014035|PMID:25046268|PMID:25278291|PMID:25412415|PMID:25525159|PMID:25600226|PMID:25741868|PMID:25744035|PMID:25904937|PMID:25962062|PMID:25985138|PMID:26020417|PMID:26036859|PMID:26049403|PMID:26195630|PMID:26332594|PMID:26343872|PMID:26374825|PMID:26467025|PMID:26541928|PMID:26546829|PMID:26586530|PMID:26632531|PMID:26633542|PMID:26636822|PMID:26688439|PMID:26690388|PMID:26802169|PMID:26937405|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27206942|PMID:27218270|PMID:27280970|PMID:27422940|PMID:27516387|PMID:27602404|PMID:27765764|PMID:27896130|PMID:27919364|PMID:27998977|PMID:28008010|PMID:28166811|PMID:28179607|PMID:28302345|PMID:28323660|PMID:28349888|PMID:28360401|PMID:28438747|PMID:28492532|PMID:28521186|PMID:28587771|PMID:28768753|PMID:28777095|PMID:28784313|PMID:28965616|PMID:28994502|PMID:29036232|PMID:29083407|PMID:29127338|PMID:29259136|PMID:29261184|PMID:29386597|PMID:29399563|PMID:29438441|PMID:29459468|PMID:29572815|PMID:29593013|PMID:29724976|PMID:29748315|PMID:29982529|PMID:29997226|PMID:30227170|PMID:30241732|PMID:30270359|PMID:30293936|PMID:30487145|PMID:30526649|PMID:30726226|PMID:30779729|PMID:30795984|PMID:30899674|PMID:30971288|PMID:31106297|PMID:31386798|PMID:31419281|PMID:31491741|PMID:31518966|PMID:31589614|PMID:31949048|PMID:31993549|PMID:32044282|PMID:32058034|PMID:32640185|PMID:32719484|PMID:33111339|PMID:33147992|PMID:33173529|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33955087|PMID:34037665|PMID:34074024|PMID:34341098|PMID:34521694|PMID:34526433|PMID:34739847|PMID:35929461 12338796 PCSK9 proprotein convertase subtilisin/kexin type 9 gene DOID:1390 hypobetalipoproteinemia ISO RGD:731023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL | ClinVar Annotator: match by term: Hypobetalipoproteinemia PMID:11668641|PMID:12175777|PMID:12730697|PMID:14727156|PMID:15358785|PMID:15654334|PMID:15893176|PMID:16183066|PMID:16211558|PMID:16314194|PMID:16424354|PMID:16465619|PMID:16554528|PMID:16571601|PMID:16912035|PMID:17094996|PMID:17140581|PMID:17170371|PMID:17316651|PMID:17380167|PMID:17461796|PMID:17502126|PMID:17765244|PMID:17804797|PMID:17921436|PMID:17971861|PMID:18197702|PMID:18262190|PMID:18266662|PMID:18300938|PMID:18354102|PMID:18559913|PMID:18710658|PMID:18799458|PMID:19001363|PMID:19022446|PMID:19081568|PMID:19191301|PMID:19249440|PMID:19351729|PMID:19797716|PMID:19917273|PMID:20006333|PMID:20031607|PMID:20172854|PMID:20579540|PMID:20623344|PMID:20959675|PMID:21146822|PMID:21943799|PMID:22095935|PMID:22923420|PMID:23095242|PMID:23105118|PMID:23375686|PMID:23386946|PMID:23663650|PMID:23743349|PMID:23935525|PMID:24033266|PMID:24278757|PMID:24507774|PMID:24507775|PMID:24785115|PMID:24808179|PMID:24859021|PMID:25014035|PMID:25046268|PMID:25278291|PMID:25412415|PMID:25600226|PMID:25741868|PMID:25744035|PMID:25904937|PMID:25962062|PMID:26020417|PMID:26049403|PMID:26195630|PMID:26332594|PMID:26374825|PMID:26467025|PMID:26541928|PMID:26546829|PMID:26632531|PMID:26633542|PMID:26636822|PMID:26688439|PMID:26802169|PMID:26937405|PMID:27135400|PMID:27206942|PMID:27218270|PMID:27280970|PMID:27516387|PMID:27765764|PMID:27919364|PMID:28008010|PMID:28179607|PMID:28302345|PMID:28323660|PMID:28360401|PMID:28438747|PMID:28492532|PMID:28587771|PMID:28768753|PMID:28777095|PMID:28784313|PMID:28965616|PMID:28994502|PMID:29083407|PMID:29127338|PMID:29259136|PMID:29261184|PMID:29438441|PMID:29459468|PMID:29593013|PMID:29724976|PMID:29748315|PMID:29997226|PMID:30241732|PMID:30270359|PMID:30293936|PMID:30971288|PMID:31106297|PMID:31491741|PMID:31949048|PMID:32044282|PMID:32058034|PMID:32719484|PMID:33147992|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33418990|PMID:34074024|PMID:34521694|PMID:34526433|PMID:35929461 12338796 PCSK9 proprotein convertase subtilisin/kexin type 9 gene DOID:3393 coronary artery disease ISO RGD:731023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990|PMID:27135400 12338796 PCSK9 proprotein convertase subtilisin/kexin type 9 gene DOID:630 genetic disease ISO RGD:731023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12338796 PCSK9 proprotein convertase subtilisin/kexin type 9 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:731023 D RGD:9068941 20200609 RGD DNA:missense mutation, nonsense mutations:cds:p.R46L, p.Y142X, p.C679X (human) PMID:16554528|REF_RGD_ID:1581000 12338796 PCSK9 proprotein convertase subtilisin/kexin type 9 gene DOID:9000808 Hypercholesterolemia ISO RGD:731023 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:16183066|PMID:16571601|PMID:16912035|PMID:17380167|PMID:17765244|PMID:19081568|PMID:19191301|PMID:23375686|PMID:24033266|PMID:24808179|PMID:25741868|PMID:26374825|PMID:26633542|PMID:27206942|PMID:27280970|PMID:28008010|PMID:28492532|PMID:28777095|PMID:28994502|PMID:29259136|PMID:29724976|PMID:30293936|PMID:31491741|PMID:31949048|PMID:32044282|PMID:32058034|PMID:32719484|PMID:33147992|PMID:33269076|PMID:33303402|PMID:34521694|PMID:34526433|PMID:35929461 12338796 PCSK9 proprotein convertase subtilisin/kexin type 9 gene DOID:9002189 High Myopia ISO RGD:731023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:25741868 12338796 PCSK9 proprotein convertase subtilisin/kexin type 9 gene DOID:9005308 Hypercholesterolemia, Autosomal Dominant, 3 ISO RGD:731023 D RGD:7240710 20180130 OMIM 12338796 PCSK9 proprotein convertase subtilisin/kexin type 9 gene DOID:9005308 Hypercholesterolemia, Autosomal Dominant, 3 ISO RGD:731023 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia 3 | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 PMID:10357843|PMID:10764678|PMID:11668641|PMID:12175777|PMID:12730697|PMID:14727156|PMID:14727179|PMID:15099351|PMID:15166014|PMID:15358785|PMID:15654334|PMID:15772090|PMID:15893176|PMID:16183066|PMID:16211558|PMID:16224054|PMID:16314194|PMID:16424354|PMID:16465619|PMID:16554528|PMID:16571601|PMID:16777760|PMID:16909389|PMID:16912035|PMID:16989838|PMID:17094996|PMID:17140581|PMID:17170371|PMID:17316651|PMID:17380167|PMID:17435765|PMID:17461796|PMID:17502126|PMID:17576681|PMID:17599443|PMID:17765244|PMID:17765246|PMID:17804797|PMID:17921436|PMID:17971861|PMID:18028451|PMID:18039650|PMID:18197702|PMID:18250299|PMID:18262190|PMID:18266662|PMID:18300938|PMID:18354102|PMID:18436227|PMID:18559913|PMID:18631360|PMID:18652535|PMID:18710658|PMID:18718593|PMID:18799458|PMID:19001363|PMID:19022446|PMID:19081568|PMID:19191301|PMID:19249440|PMID:19351729|PMID:19571328|PMID:19762784|PMID:19768174|PMID:19797716|PMID:19917273|PMID:20006333|PMID:20031607|PMID:20172854|PMID:20538126|PMID:20579540|PMID:20623344|PMID:20959675|PMID:21146822|PMID:21147780|PMID:21376320|PMID:21502677|PMID:21943799|PMID:22095935|PMID:22344438|PMID:22417841|PMID:22683120|PMID:22875854|PMID:22923420|PMID:22995991|PMID:23064986|PMID:23095242|PMID:23105118|PMID:23247049|PMID:23375686|PMID:23386946|PMID:23535506|PMID:23555291|PMID:23663650|PMID:23680767|PMID:23743349|PMID:23935525|PMID:24033266|PMID:24115837|PMID:24278757|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24785115|PMID:24793346|PMID:24808179|PMID:24859021|PMID:25014035|PMID:25046268|PMID:25278291|PMID:25412415|PMID:25525159|PMID:25600226|PMID:25741868|PMID:25744035|PMID:25904937|PMID:25962062|PMID:25985138|PMID:26020417|PMID:26036859|PMID:26049403|PMID:26195630|PMID:26332594|PMID:26343872|PMID:26374825|PMID:26467025|PMID:26541928|PMID:26546829|PMID:26632531|PMID:26633542|PMID:26636822|PMID:26688439|PMID:26690388|PMID:26802169|PMID:26937405|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27206942|PMID:27218270|PMID:27280970|PMID:27422940|PMID:27516387|PMID:27602404|PMID:27765764|PMID:27896130|PMID:27919364|PMID:27998977|PMID:28008010|PMID:28166811|PMID:28179607|PMID:28302345|PMID:28323660|PMID:28349888|PMID:28360401|PMID:28438747|PMID:28492532|PMID:28521186|PMID:28587771|PMID:28768753|PMID:28777095|PMID:28784313|PMID:28965616|PMID:28994502|PMID:29036232|PMID:29083407|PMID:29127338|PMID:29259136|PMID:29261184|PMID:29399563|PMID:29438441|PMID:29459468|PMID:29593013|PMID:29724976|PMID:29748315|PMID:29982529|PMID:29997226|PMID:30227170|PMID:30241732|PMID:30269829|PMID:30270359|PMID:30293936|PMID:30487145|PMID:30526649|PMID:30726226|PMID:30779729|PMID:30795984|PMID:30899674|PMID:30971288|PMID:31106297|PMID:31386798|PMID:31419281|PMID:31491741|PMID:31518966|PMID:31589614|PMID:31949048|PMID:31993549|PMID:32044282|PMID:32058034|PMID:32640185|PMID:32719484|PMID:33147992|PMID:33173529|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33955087|PMID:34037665|PMID:34074024|PMID:34341098|PMID:34521694|PMID:34526433|PMID:35929461|PMID:9536098 12338796 PCSK9 proprotein convertase subtilisin/kexin type 9 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:731023 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B PMID:11668641|PMID:12175777|PMID:12730697|PMID:14727156|PMID:15358785|PMID:15654334|PMID:15893176|PMID:16183066|PMID:16211558|PMID:16424354|PMID:16465619|PMID:16554528|PMID:16571601|PMID:16912035|PMID:17140581|PMID:17170371|PMID:17316651|PMID:17380167|PMID:17461796|PMID:17502126|PMID:17765244|PMID:17804797|PMID:17971861|PMID:18197702|PMID:18262190|PMID:18266662|PMID:18300938|PMID:18354102|PMID:18710658|PMID:18718593|PMID:18799458|PMID:19001363|PMID:19022446|PMID:19081568|PMID:19191301|PMID:19351729|PMID:19797716|PMID:19917273|PMID:20006333|PMID:20031607|PMID:20172854|PMID:20579540|PMID:20623344|PMID:20959675|PMID:21146822|PMID:21722902|PMID:21943799|PMID:22095935|PMID:22923420|PMID:22995991|PMID:23064986|PMID:23095242|PMID:23105118|PMID:23247049|PMID:23375686|PMID:23386946|PMID:23535506|PMID:23663650|PMID:23680767|PMID:23743349|PMID:23935525|PMID:24033266|PMID:24507774|PMID:24507775|PMID:24793346|PMID:24808179|PMID:24859021|PMID:25014035|PMID:25046268|PMID:25278291|PMID:25412415|PMID:25741868|PMID:25744035|PMID:25904937|PMID:25962062|PMID:26020417|PMID:26049403|PMID:26195630|PMID:26332594|PMID:26374825|PMID:26467025|PMID:26541928|PMID:26546829|PMID:26632531|PMID:26633542|PMID:26636822|PMID:26937405|PMID:27135400|PMID:27206942|PMID:27218270|PMID:27280970|PMID:27516387|PMID:27765764|PMID:27919364|PMID:28008010|PMID:28179607|PMID:28302345|PMID:28323660|PMID:28349888|PMID:28360401|PMID:28438747|PMID:28492532|PMID:28587771|PMID:28768753|PMID:28777095|PMID:28784313|PMID:28965616|PMID:28994502|PMID:29036232|PMID:29083407|PMID:29127338|PMID:29259136|PMID:29261184|PMID:29386597|PMID:29459468|PMID:29593013|PMID:29724976|PMID:29982529|PMID:29997226|PMID:30241732|PMID:30293936|PMID:30526649|PMID:30779729|PMID:31106297|PMID:31491741|PMID:31949048|PMID:31993549|PMID:32044282|PMID:32058034|PMID:32719484|PMID:33147992|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33955087|PMID:34037665|PMID:34074024|PMID:34521694|PMID:34526433|PMID:35929461 12338796 PCSK9 proprotein convertase subtilisin/kexin type 9 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:731023 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B PMID:11668641|PMID:12175777|PMID:12730697|PMID:14727156|PMID:15358785|PMID:15654334|PMID:15893176|PMID:16183066|PMID:16211558|PMID:16314194|PMID:16424354|PMID:16465619|PMID:16554528|PMID:16571601|PMID:16912035|PMID:17094996|PMID:17140581|PMID:17170371|PMID:17316651|PMID:17380167|PMID:17461796|PMID:17502126|PMID:17765244|PMID:17804797|PMID:17971861|PMID:18197702|PMID:18262190|PMID:18266662|PMID:18300938|PMID:18354102|PMID:18710658|PMID:18718593|PMID:18799458|PMID:19001363|PMID:19022446|PMID:19081568|PMID:19191301|PMID:19351729|PMID:19797716|PMID:19917273|PMID:20006333|PMID:20031607|PMID:20172854|PMID:20579540|PMID:20623344|PMID:20959675|PMID:21146822|PMID:21722902|PMID:21943799|PMID:22095935|PMID:22923420|PMID:22995991|PMID:23064986|PMID:23095242|PMID:23105118|PMID:23247049|PMID:23375686|PMID:23386946|PMID:23535506|PMID:23663650|PMID:23680767|PMID:23743349|PMID:23935525|PMID:24033266|PMID:24507774|PMID:24507775|PMID:24793346|PMID:24808179|PMID:24859021|PMID:25014035|PMID:25046268|PMID:25278291|PMID:25412415|PMID:25741868|PMID:25744035|PMID:25904937|PMID:25962062|PMID:26020417|PMID:26049403|PMID:26195630|PMID:26332594|PMID:26374825|PMID:26467025|PMID:26541928|PMID:26546829|PMID:26632531|PMID:26633542|PMID:26636822|PMID:26688439|PMID:26937405|PMID:27135400|PMID:27206942|PMID:27218270|PMID:27280970|PMID:27516387|PMID:27765764|PMID:27919364|PMID:28008010|PMID:28179607|PMID:28302345|PMID:28323660|PMID:28349888|PMID:28360401|PMID:28438747|PMID:28492532|PMID:28587771|PMID:28768753|PMID:28777095|PMID:28784313|PMID:28965616|PMID:28994502|PMID:29036232|PMID:29083407|PMID:29127338|PMID:29259136|PMID:29261184|PMID:29386597|PMID:29459468|PMID:29593013|PMID:29724976|PMID:29982529|PMID:29997226|PMID:30241732|PMID:30293936|PMID:30526649|PMID:30779729|PMID:31106297|PMID:31491741|PMID:31589614|PMID:31949048|PMID:31993549|PMID:32044282|PMID:32058034|PMID:32719484|PMID:33147992|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33955087|PMID:34037665|PMID:34074024|PMID:34521694|PMID:34526433|PMID:35929461 12338796 PCSK9 proprotein convertase subtilisin/kexin type 9 gene DOID:9005519 Hyperlipoproteinemia Type II severity ISO RGD:731023 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D374Y (human) PMID:15772090|REF_RGD_ID:1581001 12338796 PCSK9 proprotein convertase subtilisin/kexin type 9 gene DOID:9007751 Hypocholesterolemia ISO RGD:731023 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypocholesterolemia PMID:15654334|PMID:16424354|PMID:16465619|PMID:16554528|PMID:16571601|PMID:16909389|PMID:16912035|PMID:16989838|PMID:17599443|PMID:18354102|PMID:18652535|PMID:19351729|PMID:19797716|PMID:19917273|PMID:20031607|PMID:20579540|PMID:22875854|PMID:23743349|PMID:24507774|PMID:25278291|PMID:25412415|PMID:25741868|PMID:26049403|PMID:26467025|PMID:27135400|PMID:27218270|PMID:27280970|PMID:27602404|PMID:27765764|PMID:28492532|PMID:28768753|PMID:28965616|PMID:29083407|PMID:29261184|PMID:29997226|PMID:30227170|PMID:30726226|PMID:30899674 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:0060041 autism spectrum disorder ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1345881 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1345881 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:0111996 immunodeficiency 51 ISO RGD:1345881 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:1059 intellectual disability ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:11198 DiGeorge syndrome ISO RGD:1345881 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:11372 megacolon ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:11612 polycystic ovary syndrome ISO RGD:1345881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:12583 velocardiofacial syndrome ISO RGD:1345881 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:12849 autistic disorder ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:1588 thrombocytopenia ISO RGD:1345881 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10887115|PMID:25741868|PMID:31064749|PMID:32581362|PMID:34355501 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:1682 congenital heart disease ISO RGD:1345881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15213848 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:1826 epilepsy ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:2213 hemorrhagic disease ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1345881 D RGD:7240710 20180130 OMIM 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1345881 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome PMID:10887115|PMID:17109744|PMID:25741868|PMID:28492532|PMID:31064749|PMID:32581362|PMID:34355501 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:2217 Bernard-Soulier syndrome severity ISO RGD:1345881 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:c.281A>G(p.D94G)(human) PMID:28131619|REF_RGD_ID:13464128 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:3410 carotid artery thrombosis ISO RGD:732124 D RGD:9068941 20200609 RGD PMID:17095718|REF_RGD_ID:11040529 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:5419 schizophrenia ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:612 primary immunodeficiency disease ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:630 genetic disease ISO RGD:1345881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:9003121 Thromboembolism ISO RGD:732124 D RGD:9068941 20200609 RGD PMID:17095718|REF_RGD_ID:11040529 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:9003871 Venous Thrombosis ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:9004082 Mesenteric Ischemia ISO RGD:732124 D RGD:9068941 20200609 RGD PMID:17095718|REF_RGD_ID:11040529 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:9006593 Bernard-Soulier Syndrome, Type B ISO RGD:1345881 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bernard-Soulier syndrome, type B | ClinVar Annotator: match by term: Macrothrombocytopenia, familial, Bernard-Soulier type PMID:10887115|PMID:18414213|PMID:25741868|PMID:31064749|PMID:32581362|PMID:34355501|PMID:7633430|PMID:8703016|PMID:9116284 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:9007661 Dwarfism ISO RGD:1345881 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1345881 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12338828 GP1BB glycoprotein Ib platelet subunit beta gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1345881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15213848 12338868 CD8A CD8 subunit alpha gene DOID:0050185 erythema multiforme susceptibility ISO RGD:735285 D RGD:9068941 20210326 RGD associated with adult T-cell leukemia;mRNA:increased expression:blood (human) PMID:32433748|REF_RGD_ID:124715447 12338868 CD8A CD8 subunit alpha gene DOID:0080600 COVID-19 ISO RGD:735285 D RGD:9068941 20210326 RGD mRNA:increased expression:epithelium of nasopharynx (human) PMID:32898168|REF_RGD_ID:124715451 12338868 CD8A CD8 subunit alpha gene DOID:0080600 COVID-19 exacerbates ISO RGD:10317 D RGD:9068941 20210326 RGD protein:increased expression:blood, T cell (mouse) PMID:32991819|REF_RGD_ID:124715452 12338868 CD8A CD8 subunit alpha gene DOID:0080600 COVID-19 severity ISO RGD:735285 D RGD:9068941 20200618 RGD protein:decreased expression:serum, lung, T cell (human) PMID:32427582|REF_RGD_ID:30309200 12338868 CD8A CD8 subunit alpha gene DOID:0081292 traumatic brain injury ISO RGD:10317 D RGD:9068941 20210326 RGD mRNA:increased expression:brain (mouse) PMID:31383034|REF_RGD_ID:124715446 12338868 CD8A CD8 subunit alpha gene DOID:1024 leprosy exacerbates ISO RGD:735285 D RGD:9068941 20210326 RGD mRNA:increased expression:blood (human) PMID:31784594|REF_RGD_ID:124715449 12338868 CD8A CD8 subunit alpha gene DOID:10534 stomach cancer ISO RGD:735285 D RGD:9068941 20210326 RGD associated with Epstein-Barr Virus Infections;mRNA:increased expression:stomach (human) PMID:29915957|REF_RGD_ID:124715442 12338868 CD8A CD8 subunit alpha gene DOID:10534 stomach cancer ameliorates ISO RGD:735285 D RGD:9068941 20210326 RGD protein:decreased expression:stomach, T cell (human) PMID:30106451|REF_RGD_ID:124715443 12338868 CD8A CD8 subunit alpha gene DOID:11168 anogenital venereal wart ISO RGD:735285 D RGD:9068941 20210326 RGD mRNA:decreased expression:zone of skin (human) PMID:25774455|REF_RGD_ID:36174028 12338868 CD8A CD8 subunit alpha gene DOID:11573 listeriosis disease_progression ISO RGD:10317 D RGD:9068941 20210326 RGD protein:increased expression:liver (mouse) PMID:20348006|REF_RGD_ID:124715456 12338868 CD8A CD8 subunit alpha gene DOID:11573 listeriosis exacerbates ISO RGD:10317 D RGD:9068941 20210326 RGD protein:decreased expression:spleen, liver (mouse) PMID:2120126|REF_RGD_ID:124715458 12338868 CD8A CD8 subunit alpha gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735285 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17950725 12338868 CD8A CD8 subunit alpha gene DOID:399 tuberculosis ISO RGD:735285 D RGD:9068941 20210326 RGD associated with human immunodeficiency virus infectious disease;mRNA:increased expression:whole blood (human) PMID:27553407|REF_RGD_ID:124715445 12338868 CD8A CD8 subunit alpha gene DOID:399 tuberculosis susceptibility ISO RGD:735285 D RGD:9068941 20210326 RGD mRNA:decreased expression:blood (human) PMID:26725873|REF_RGD_ID:124715450 12338868 CD8A CD8 subunit alpha gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:735285 D RGD:9068941 20210326 RGD PMID:29384862|REF_RGD_ID:124715453 12338868 CD8A CD8 subunit alpha gene DOID:576 proteinuria ISO RGD:10317 D RGD:9068941 20210326 RGD associated with Protozoan Infections, Animal;protein:increased expression:kidney (mouse) PMID:9713350|REF_RGD_ID:124715441 12338868 CD8A CD8 subunit alpha gene DOID:630 genetic disease ISO RGD:735285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12338868 CD8A CD8 subunit alpha gene DOID:8469 influenza ISO RGD:10317 D RGD:9068941 20210326 RGD protein:altered expression:lung, T cell (mouse) PMID:28355204|REF_RGD_ID:124715455 12338868 CD8A CD8 subunit alpha gene DOID:8566 herpes simplex ISO RGD:10317 D RGD:9068941 20210326 RGD mRNA:increased expression:trigeminal ganglion (mouse) PMID:19151393|REF_RGD_ID:124715454 12338868 CD8A CD8 subunit alpha gene DOID:9000469 Viral Myocarditis ISO RGD:10317 D RGD:9068941 20210326 RGD associated with Coxsackievirus Infections;protein:increased expression:myocardium (mouse) PMID:17113076|REF_RGD_ID:124715457 12338868 CD8A CD8 subunit alpha gene DOID:9000509 Epstein-Barr Virus Infections ISO RGD:735285 D RGD:9068941 20210326 RGD associated with stomach cancer;mRNA:increased expression:stomach (human) PMID:29155997|REF_RGD_ID:124715448 12338868 CD8A CD8 subunit alpha gene DOID:9003281 Spontaneous Abortions ISO RGD:735285 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12338868 CD8A CD8 subunit alpha gene DOID:9006771 Chronic Rhinosinusitis ameliorates ISO RGD:735285 D RGD:9068941 20210326 RGD protein:decreased expression:blood, T cell (human) PMID:24639246|REF_RGD_ID:124715444 12338868 CD8A CD8 subunit alpha gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:735285 D RGD:7240710 20180130 OMIM 12338868 CD8A CD8 subunit alpha gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:735285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:11435463|PMID:16199547|PMID:17576681|PMID:17658607|PMID:21546492|PMID:24033266|PMID:25741868|PMID:26563160|PMID:28492532|PMID:9536098 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:0050952 spastic ataxia ISO RGD:731981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:0060041 autism spectrum disorder ISO RGD:731981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:0080600 COVID-19 ISO RGD:731981 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:1059 intellectual disability ISO RGD:731981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:19266219|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31152168 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:731981 D RGD:9068941 20200609 RGD DNA:SNP: :rs16934131 (human) PMID:21480501|REF_RGD_ID:10412025 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:11981 morbid obesity ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21708048 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:12849 autistic disorder ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16946189 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:1824 status epilepticus ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18695509 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:1826 epilepsy ISO RGD:731981 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:4450 renal cell carcinoma ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:630 genetic disease ISO RGD:731981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12366739|PMID:15184377|PMID:15194823|PMID:15937479|PMID:25741868|PMID:26195193|PMID:26467025|PMID:27567911|PMID:28383543|PMID:28492532|PMID:29330545|PMID:31152168|PMID:32132200 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:6432 pulmonary hypertension ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28090300 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:893 Wilson disease ISO RGD:731981 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:25741868|PMID:26195193|PMID:28492532|PMID:29330545 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9000099 Experimental Colitis ISO RGD:620715 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:colon PMID:23986198|REF_RGD_ID:10412026 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21695131 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9002672 Generalized Epilepsy and Paroxysmal Dyskinesia ISO RGD:731981 D RGD:7240710 20230505 OMIM 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9002672 Generalized Epilepsy and Paroxysmal Dyskinesia ISO RGD:731981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized epilepsy and paroxysmal dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy PMID:15937479|PMID:16199547|PMID:16946189|PMID:17576681|PMID:18414213|PMID:19266219|PMID:20430843|PMID:25326635|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26195193|PMID:26467025|PMID:27567911|PMID:28492532|PMID:29330545|PMID:29356177|PMID:29545233|PMID:29738522|PMID:29933521|PMID:9536098 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9003251 CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES ISO RGD:731981 D RGD:7240710 20230505 OMIM 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9003251 CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES ISO RGD:731981 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | ClinVar Annotator: match by term: Cerebellar atrophy, developmental delay, and seizures PMID:17576681|PMID:25741868|PMID:26467025|PMID:27567911|PMID:28492532|PMID:29545233|PMID:9536098 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9004657 Weight Gain ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27605626 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9004958 Idiopathic Generalized Epilepsy 16 ISO RGD:731981 D RGD:7240710 20230505 OMIM 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9004958 Idiopathic Generalized Epilepsy 16 ISO RGD:731981 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 16 PMID:25741868|PMID:28492532 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:731981 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620715 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:aorta, smooth muscle PMID:24589593|REF_RGD_ID:10412030 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9006257 Growth Disorders ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28242822 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9008086 Developmental Disabilities ISO RGD:731981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9008539 Perinatal Death ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28242822 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9008959 Liang-Wang Syndrome ISO RGD:731981 D RGD:7240710 20230505 OMIM 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9008959 Liang-Wang Syndrome ISO RGD:731981 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Liang-Wang syndrome PMID:12366739|PMID:15184377|PMID:15194823|PMID:15937479|PMID:17576681|PMID:25741868|PMID:26195193|PMID:26467025|PMID:27567911|PMID:28383543|PMID:28492532|PMID:31152168|PMID:32132200|PMID:9536098 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15088113 12338878 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9970 obesity ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27605626 12338909 SLC25A3 solute carrier family 25 member 3 gene DOID:630 genetic disease ISO RGD:732727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12338909 SLC25A3 solute carrier family 25 member 3 gene DOID:9006387 Mitochondrial Phosphate Carrier Deficiency ISO RGD:732727 D RGD:7240710 20180130 OMIM 12338909 SLC25A3 solute carrier family 25 member 3 gene DOID:9006387 Mitochondrial Phosphate Carrier Deficiency ISO RGD:732727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial phosphate carrier deficiency | ClinVar Annotator: match by term: NEONATAL HYPERTROPHIC CARDIOMYOPATHY, RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND LACTIC ACIDOSIS PMID:17273968|PMID:17576681|PMID:21763135|PMID:25681081|PMID:25741868|PMID:28492532|PMID:9536098 12338927 EIF2S2 eukaryotic translation initiation factor 2 subunit beta gene DOID:2843 long QT syndrome ISO RGD:1343864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12338927 EIF2S2 eukaryotic translation initiation factor 2 subunit beta gene DOID:630 genetic disease ISO RGD:1343864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338927 EIF2S2 eukaryotic translation initiation factor 2 subunit beta gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1550333 D RGD:9068941 20200609 RGD PMID:19168544|REF_RGD_ID:10755431 12338927 EIF2S2 eukaryotic translation initiation factor 2 subunit beta gene DOID:9008939 Breast Neoplasms ISO RGD:1343864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 12338940 C2H16orf78 chromosome 2 C16orf78 homolog gene DOID:630 genetic disease ISO RGD:1605880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338962 BMP6 bone morphogenetic protein 6 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1353193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18688853 12338962 BMP6 bone morphogenetic protein 6 gene DOID:0050855 renal fibrosis severity ISO RGD:732562 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:21356359|REF_RGD_ID:7242415 12338962 BMP6 bone morphogenetic protein 6 gene DOID:0060180 colitis ISO RGD:2214 D RGD:9068941 20200609 RGD PMID:22361727|REF_RGD_ID:7242194 12338962 BMP6 bone morphogenetic protein 6 gene DOID:0090128 Carvajal syndrome ISO RGD:1353193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:28492532 12338962 BMP6 bone morphogenetic protein 6 gene DOID:0110076 arrhythmogenic right ventricular dysplasia 8 ISO RGD:1353193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:28492532 12338962 BMP6 bone morphogenetic protein 6 gene DOID:10283 prostate cancer ISO RGD:1353193 D RGD:9068941 20200609 RGD protein:increased expression:prostate PMID:18072288|REF_RGD_ID:2289017 12338962 BMP6 bone morphogenetic protein 6 gene DOID:1612 breast cancer ISO RGD:1353193 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast PMID:17004110|REF_RGD_ID:1643590 12338962 BMP6 bone morphogenetic protein 6 gene DOID:2316 brain ischemia ISO RGD:2214 D RGD:9068941 20200609 RGD PMID:11245809|REF_RGD_ID:2289024 12338962 BMP6 bone morphogenetic protein 6 gene DOID:2352 hemochromatosis ISO RGD:1353193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19252486|PMID:19252488 12338962 BMP6 bone morphogenetic protein 6 gene DOID:2355 anemia ISO RGD:2214 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver PMID:21859731|REF_RGD_ID:7242407 12338962 BMP6 bone morphogenetic protein 6 gene DOID:3042 allergic contact dermatitis ISO RGD:1353193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 12338962 BMP6 bone morphogenetic protein 6 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1353193 D RGD:9068941 20200609 RGD protein:increased expression:esophagus PMID:22364398|REF_RGD_ID:7242413 12338962 BMP6 bone morphogenetic protein 6 gene DOID:4450 renal cell carcinoma ISO RGD:1353193 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney PMID:20016212|REF_RGD_ID:7242419 12338962 BMP6 bone morphogenetic protein 6 gene DOID:5426 primary ovarian insufficiency ISO RGD:1353193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12338962 BMP6 bone morphogenetic protein 6 gene DOID:630 genetic disease ISO RGD:1353193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338962 BMP6 bone morphogenetic protein 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1353193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 12338962 BMP6 bone morphogenetic protein 6 gene DOID:8398 osteoarthritis ISO RGD:1353193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 12338962 BMP6 bone morphogenetic protein 6 gene DOID:9000955 Acute Otitis Media ISO RGD:732562 D RGD:9068941 20210611 RGD mRNA:decreased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 12338962 BMP6 bone morphogenetic protein 6 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:1353193 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:increased expression:bone PMID:16166304|REF_RGD_ID:2289018 12338962 BMP6 bone morphogenetic protein 6 gene DOID:9000998 Brain Injuries ISO RGD:2214 D RGD:9068941 20200609 RGD protein:increased expression:brain, astrocyte, neuron PMID:16388909|REF_RGD_ID:2289020 12338962 BMP6 bone morphogenetic protein 6 gene DOID:9001547 Tibial Fractures ISO RGD:2214 D RGD:9068941 20200609 RGD PMID:23097200|REF_RGD_ID:7242189 12338962 BMP6 bone morphogenetic protein 6 gene DOID:9004009 Reperfusion Injury ISO RGD:2214 D RGD:9068941 20200609 RGD PMID:11245809|REF_RGD_ID:2289024 12338962 BMP6 bone morphogenetic protein 6 gene DOID:9005725 Iron Overload ISO RGD:1353193 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Iron overload, susceptibility to PMID:26582087|PMID:28335084|PMID:32464486 12338962 BMP6 bone morphogenetic protein 6 gene DOID:9005725 Iron Overload susceptibility ISO RGD:1353193 D RGD:7240710 20221214 OMIM 12338973 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:0050651 atrioventricular septal defect ISO RGD:1314575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:19127206|PMID:20301550|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25741868|PMID:26499378|PMID:28492532|PMID:28796785|PMID:29127259 12338973 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:0060490 Schimke immuno-osseous dysplasia ISO RGD:1314575 D RGD:7240710 20180130 OMIM 12338973 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:0060490 Schimke immuno-osseous dysplasia ISO RGD:1314575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia PMID:11799392|PMID:12471207|PMID:15523612|PMID:15880370|PMID:15884045|PMID:16199547|PMID:16237566|PMID:16840568|PMID:17089404|PMID:17576681|PMID:18805831|PMID:18974355|PMID:19127206|PMID:19793864|PMID:20179009|PMID:20301550|PMID:21914180|PMID:22998683|PMID:23359635|PMID:23671665|PMID:24589093|PMID:25349199|PMID:25640679|PMID:25741868|PMID:25748404|PMID:25943327|PMID:26089390|PMID:26195148|PMID:26499378|PMID:27577878|PMID:28204945|PMID:28492532|PMID:28780565|PMID:28796785|PMID:28844315|PMID:29127259|PMID:29282041|PMID:29802247|PMID:30026777|PMID:30635151|PMID:30784191|PMID:31039288|PMID:31275356|PMID:32393263|PMID:32499645|PMID:32604935|PMID:33203071|PMID:33532864|PMID:9536098 12338973 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1314575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:28492532|PMID:28844315 12338973 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:1184 nephrotic syndrome ISO RGD:1314575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:18974355|PMID:19127206|PMID:20301550|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25741868|PMID:26499378|PMID:28492532|PMID:28796785|PMID:29127259 12338973 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1314575 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868|PMID:28492532 12338973 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:557 kidney disease ISO RGD:1314575 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 12338973 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1314575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:11799392|PMID:15523612|PMID:16199547|PMID:18805831|PMID:20301550|PMID:25741868|PMID:28492532|PMID:30026777|PMID:30784191|PMID:32499645 12338973 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:630 genetic disease ISO RGD:1314575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12338973 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12338997 UFC1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1604819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12338997 UFC1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1604819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12338997 UFC1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:630 genetic disease ISO RGD:1604819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12338997 UFC1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:9009223 NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH ISO RGD:1604819 D RGD:7240710 20190315 OMIM 12338997 UFC1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:9009223 NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH ISO RGD:1604819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity and poor growth PMID:25741868|PMID:27431290|PMID:29868776 12338997 UFC1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12339008 DAP3 death associated protein 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1313309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12339008 DAP3 death associated protein 3 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1313309 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532|PMID:30684668|PMID:31463572 12339008 DAP3 death associated protein 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1313309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12339008 DAP3 death associated protein 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1313309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12339008 DAP3 death associated protein 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1313309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12339008 DAP3 death associated protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1313309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12339008 DAP3 death associated protein 3 gene DOID:5812 MHC class II deficiency ISO RGD:1313309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12339008 DAP3 death associated protein 3 gene DOID:630 genetic disease ISO RGD:1313309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339008 DAP3 death associated protein 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1313309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12339008 DAP3 death associated protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12339026 DENND4B DENN domain containing 4B gene DOID:0070048 GAND syndrome ISO RGD:1344276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 12339026 DENND4B DENN domain containing 4B gene DOID:0111940 immunodeficiency 42 ISO RGD:1344276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12339026 DENND4B DENN domain containing 4B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12339026 DENND4B DENN domain containing 4B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344276 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12339026 DENND4B DENN domain containing 4B gene DOID:1540 parathyroid carcinoma ISO RGD:1344276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12339026 DENND4B DENN domain containing 4B gene DOID:5812 MHC class II deficiency ISO RGD:1344276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12339026 DENND4B DENN domain containing 4B gene DOID:630 genetic disease ISO RGD:1344276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339026 DENND4B DENN domain containing 4B gene DOID:9005539 Familial Prostate Cancer ISO RGD:1344276 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12339026 DENND4B DENN domain containing 4B gene DOID:9007661 Dwarfism ISO RGD:1344276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12339026 DENND4B DENN domain containing 4B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12339058 GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1351197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12339058 GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 gene DOID:630 genetic disease ISO RGD:1351197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339058 GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 gene DOID:9001924 RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE ISO RGD:1351197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE PMID:32591345 12339058 GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 gene DOID:9006205 Animal Disease Models ISO RGD:1351197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12339071 ATG4A autophagy related 4A cysteine peptidase gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1604759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 12339071 ATG4A autophagy related 4A cysteine peptidase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12339071 ATG4A autophagy related 4A cysteine peptidase gene DOID:0110034 X-linked Alport syndrome ISO RGD:1604759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome 12339071 ATG4A autophagy related 4A cysteine peptidase gene DOID:12849 autistic disorder ISO RGD:1604759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12339071 ATG4A autophagy related 4A cysteine peptidase gene DOID:630 genetic disease ISO RGD:1604759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339088 GATAD1 GATA zinc finger domain containing 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1605644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease PMID:10447258|PMID:11389485|PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21846392|PMID:25525159|PMID:25741868|PMID:26319495|PMID:26387595|PMID:26467025|PMID:27124789|PMID:27302843|PMID:27353947|PMID:27848944|PMID:28446956|PMID:28492532|PMID:29419819|PMID:30561787|PMID:30733538|PMID:31374812|PMID:31831025|PMID:32203225|PMID:33083013|PMID:33708531|PMID:33955814|PMID:34513757|PMID:9398847|PMID:9398848|PMID:9536098 12339088 GATAD1 GATA zinc finger domain containing 1 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1605644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:11389485|PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26319495|PMID:26387595|PMID:26467025|PMID:27124789|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:28446956|PMID:28492532|PMID:29261186|PMID:29419819|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31374812|PMID:31831025|PMID:32203225|PMID:33083013|PMID:33708531|PMID:33955814|PMID:34513757|PMID:9398847|PMID:9398848|PMID:9536098 12339088 GATAD1 GATA zinc finger domain containing 1 gene DOID:0080623 Heimler syndrome 1 ISO RGD:1605644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C PMID:12402331|PMID:16086329|PMID:16088892|PMID:16141001|PMID:17576681|PMID:19105186|PMID:21031596|PMID:25525159|PMID:25741868|PMID:26387595|PMID:26467025|PMID:27302843|PMID:28492532|PMID:30733538|PMID:31374812|PMID:31831025|PMID:32203225|PMID:34513757|PMID:9398847|PMID:9536098 12339088 GATAD1 GATA zinc finger domain containing 1 gene DOID:0081240 peroxisome biogenesis disorder 1B ISO RGD:1605644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21846392|PMID:25525159|PMID:25741868|PMID:26319495|PMID:26387595|PMID:26467025|PMID:27124789|PMID:27302843|PMID:27353947|PMID:27848944|PMID:28446956|PMID:28492532|PMID:29419819|PMID:30561787|PMID:30733538|PMID:31374812|PMID:31831025|PMID:32203225|PMID:33708531|PMID:33955814|PMID:34513757|PMID:9398847|PMID:9398848|PMID:9536098 12339088 GATAD1 GATA zinc finger domain containing 1 gene DOID:0110441 dilated cardiomyopathy 2B ISO RGD:1605644 D RGD:7240710 20180130 OMIM 12339088 GATAD1 GATA zinc finger domain containing 1 gene DOID:0110441 dilated cardiomyopathy 2B ISO RGD:1605644 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 2B PMID:17576681|PMID:21965549|PMID:24033266|PMID:25741868|PMID:27114410|PMID:28492532|PMID:30391667|PMID:9536098 12339088 GATAD1 GATA zinc finger domain containing 1 gene DOID:0111640 autosomal recessive nonsyndromic deafness 111 ISO RGD:1605644 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 111 PMID:12402331|PMID:16086329|PMID:16141001|PMID:19105186|PMID:21031596|PMID:25525159|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:9398847 12339088 GATAD1 GATA zinc finger domain containing 1 gene DOID:10907 microcephaly ISO RGD:1605644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12339088 GATAD1 GATA zinc finger domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:1605644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12339088 GATAD1 GATA zinc finger domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12339088 GATAD1 GATA zinc finger domain containing 1 gene DOID:630 genetic disease ISO RGD:1605644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:19105186|PMID:21031596|PMID:25741868|PMID:26387595|PMID:27302843|PMID:28492532|PMID:30733538|PMID:31374812|PMID:31831025|PMID:32203225|PMID:34513757|PMID:9398847|PMID:9398848 12339088 GATAD1 GATA zinc finger domain containing 1 gene DOID:8501 fundus dystrophy ISO RGD:1605644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16086329|PMID:16141001|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:9398847 12339088 GATAD1 GATA zinc finger domain containing 1 gene DOID:9006420 Zellweger Leukodystrophy ISO RGD:1605644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:11389485|PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26319495|PMID:26387595|PMID:26467025|PMID:27124789|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:28446956|PMID:28492532|PMID:29261186|PMID:29419819|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31374812|PMID:31831025|PMID:32203225|PMID:33083013|PMID:33708531|PMID:33955814|PMID:34513757|PMID:9398847|PMID:9398848|PMID:9536098 12339088 GATAD1 GATA zinc finger domain containing 1 gene DOID:905 Zellweger syndrome ISO RGD:1605644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10447258|PMID:11389485|PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17576681|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26387595|PMID:26467025|PMID:27124789|PMID:27353947|PMID:27469511|PMID:27848944|PMID:28492532|PMID:29261186|PMID:30561787|PMID:30755224|PMID:31628608|PMID:31831025|PMID:9398847|PMID:9398848|PMID:9536098 12339088 GATAD1 GATA zinc finger domain containing 1 gene DOID:905 Zellweger syndrome ISO RGD:1605644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10447258|PMID:11389485|PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26319495|PMID:26387595|PMID:26467025|PMID:27124789|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:28446956|PMID:28492532|PMID:29261186|PMID:29419819|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31374812|PMID:31628608|PMID:31831025|PMID:32203225|PMID:33083013|PMID:33708531|PMID:33955814|PMID:34513757|PMID:9398847|PMID:9398848|PMID:9536098 12339098 OR11H6 olfactory receptor family 11 subfamily H member 6 gene DOID:630 genetic disease ISO RGD:1344961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339101 OR6B1 olfactory receptor family 6 subfamily B member 1 gene DOID:630 genetic disease ISO RGD:1351550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339104 XDH xanthine dehydrogenase gene DOID:0050700 cardiomyopathy treatment ISO RGD:62043 D RGD:9068941 20200609 RGD associated with Cachexia PMID:23751350|REF_RGD_ID:7247699 12339104 XDH xanthine dehydrogenase gene DOID:0050700 cardiomyopathy treatment ISO RGD:62043 D RGD:9068941 20200609 RGD associated with Insulin Resistance PMID:25889404|REF_RGD_ID:13208959 12339104 XDH xanthine dehydrogenase gene DOID:0050855 renal fibrosis treatment ISO RGD:62043 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:22350467|REF_RGD_ID:7247643 12339104 XDH xanthine dehydrogenase gene DOID:0060236 xanthinuria ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: XDH deficiency | ClinVar Annotator: match by term: Xanthinuria PMID:11379872|PMID:16199547|PMID:17368066|PMID:17576681|PMID:18300946|PMID:18712049|PMID:20077140|PMID:20814157|PMID:21963464|PMID:22421815|PMID:22981351|PMID:23203137|PMID:24033266|PMID:25370766|PMID:25741868|PMID:25823988|PMID:26110747|PMID:26120850|PMID:26283345|PMID:26443251|PMID:26863601|PMID:27703193|PMID:28492532|PMID:28508967|PMID:30755392|PMID:32071838|PMID:9153281|PMID:9536098 12339104 XDH xanthine dehydrogenase gene DOID:0080000 muscular disease treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:9789800|REF_RGD_ID:13209133 12339104 XDH xanthine dehydrogenase gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1348452 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 PMID:28492532 12339104 XDH xanthine dehydrogenase gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1348452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:28492532 12339104 XDH xanthine dehydrogenase gene DOID:10611 protein-losing enteropathy ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Protein-losing enteropathy PMID:25741868|PMID:28492532|PMID:30755392 12339104 XDH xanthine dehydrogenase gene DOID:1063 interstitial nephritis ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:15933230|REF_RGD_ID:13209024 12339104 XDH xanthine dehydrogenase gene DOID:1074 kidney failure ISO RGD:62335 D RGD:9068941 20200609 RGD PMID:19667249|REF_RGD_ID:7247649 12339104 XDH xanthine dehydrogenase gene DOID:1074 kidney failure ISO RGD:62335 D RGD:9068941 20200609 RGD DNA:nonsense mutation:CDS PMID:23024809|REF_RGD_ID:7247636 12339104 XDH xanthine dehydrogenase gene DOID:1074 kidney failure treatment ISO RGD:62335 D RGD:9068941 20200609 RGD associated with Hyperuricemia PMID:23137955|REF_RGD_ID:7247633 12339104 XDH xanthine dehydrogenase gene DOID:10762 portal hypertension ISO RGD:62043 D RGD:9068941 20200609 RGD protein:alternative form:jejunum PMID:10562591|REF_RGD_ID:13209137 12339104 XDH xanthine dehydrogenase gene DOID:10763 hypertension ISO RGD:1348452 D RGD:9068941 20200609 RGD DNA:SNPs:exon, intron:47686C>T, 69901A>C, 67873A>C (p.N1109T) (human) PMID:18712049|REF_RGD_ID:7247654 12339104 XDH xanthine dehydrogenase gene DOID:10763 hypertension ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:12826072|REF_RGD_ID:13210518 12339104 XDH xanthine dehydrogenase gene DOID:10763 hypertension treatment ISO RGD:1348452 D RGD:9068941 20200609 RGD PMID:18728266|REF_RGD_ID:7247653 12339104 XDH xanthine dehydrogenase gene DOID:10763 hypertension treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:23746952|REF_RGD_ID:7247630 12339104 XDH xanthine dehydrogenase gene DOID:11054 urinary bladder cancer ISO RGD:1348452 D RGD:9068941 20200609 RGD protein:decreased activity:urinary bladder PMID:20087949|REF_RGD_ID:7247647 12339104 XDH xanthine dehydrogenase gene DOID:11111 hydronephrosis ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydronephrosis PMID:25741868|PMID:28492532|PMID:30755392 12339104 XDH xanthine dehydrogenase gene DOID:114 heart disease ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17217956 12339104 XDH xanthine dehydrogenase gene DOID:1227 neutropenia ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:25741868|PMID:28492532|PMID:30755392 12339104 XDH xanthine dehydrogenase gene DOID:12849 autistic disorder ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15205966 12339104 XDH xanthine dehydrogenase gene DOID:1287 cardiovascular system disease treatment ISO RGD:1348452 D RGD:9068941 20200609 RGD associated with Hypertensive Nephropathy PMID:23192770|REF_RGD_ID:7247631 12339104 XDH xanthine dehydrogenase gene DOID:13189 gout ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29071757 12339104 XDH xanthine dehydrogenase gene DOID:13580 cholestasis ISO RGD:62043 D RGD:9068941 20200609 RGD protein:alternative form:liver PMID:10898233|REF_RGD_ID:13209135 12339104 XDH xanthine dehydrogenase gene DOID:1470 major depressive disorder ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20471444 12339104 XDH xanthine dehydrogenase gene DOID:1588 thrombocytopenia ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532|PMID:30755392 12339104 XDH xanthine dehydrogenase gene DOID:1919 Lesch-Nyhan syndrome treatment ISO RGD:1348452 D RGD:9068941 20200609 RGD PMID:17697859|REF_RGD_ID:7247657 12339104 XDH xanthine dehydrogenase gene DOID:1920 hyperuricemia ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29071757 12339104 XDH xanthine dehydrogenase gene DOID:1920 hyperuricemia treatment ISO RGD:1348452 D RGD:9068941 20200609 RGD PMID:22436129|REF_RGD_ID:7247642 12339104 XDH xanthine dehydrogenase gene DOID:1920 hyperuricemia treatment ISO RGD:62043 D RGD:9068941 20200609 RGD protein:altered activity:kidney PMID:22690247|REF_RGD_ID:7247639 12339104 XDH xanthine dehydrogenase gene DOID:1920 hyperuricemia treatment ISO RGD:62335 D RGD:9068941 20200609 RGD PMID:22856880|PMID:26197582|REF_RGD_ID:13208955|REF_RGD_ID:7247638 12339104 XDH xanthine dehydrogenase gene DOID:2876 laryngeal squamous cell carcinoma ISO RGD:1348452 D RGD:9068941 20220610 RGD protein:increased activity:larynx PMID:8138195|REF_RGD_ID:152995273 12339104 XDH xanthine dehydrogenase gene DOID:3021 acute kidney failure treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:22571266|REF_RGD_ID:7247641 12339104 XDH xanthine dehydrogenase gene DOID:3021 acute kidney failure treatment ISO RGD:62043 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:19628223|REF_RGD_ID:7247650 12339104 XDH xanthine dehydrogenase gene DOID:3021 acute kidney failure treatment ISO RGD:62335 D RGD:9068941 20200609 RGD PMID:18539378|REF_RGD_ID:7247656 12339104 XDH xanthine dehydrogenase gene DOID:305 carcinoma ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12339104 XDH xanthine dehydrogenase gene DOID:326 ischemia ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22688000 12339104 XDH xanthine dehydrogenase gene DOID:3407 carotid artery disease ISO RGD:1348452 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:SNP:intron:69901A>C (human) PMID:18712049|REF_RGD_ID:7247654 12339104 XDH xanthine dehydrogenase gene DOID:3525 middle cerebral artery infarction ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 12339104 XDH xanthine dehydrogenase gene DOID:4989 pancreatitis ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:14728722|REF_RGD_ID:7247701 12339104 XDH xanthine dehydrogenase gene DOID:6000 congestive heart failure ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19933411 12339104 XDH xanthine dehydrogenase gene DOID:630 genetic disease ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12339104 XDH xanthine dehydrogenase gene DOID:684 hepatocellular carcinoma ISO RGD:62043 D RGD:9068941 20200609 RGD protein:decreased activity:tumor (rat) PMID:179860|REF_RGD_ID:5135059 12339104 XDH xanthine dehydrogenase gene DOID:784 chronic kidney disease ISO RGD:1348452 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:SNP: :66292C>G (human) PMID:18712049|REF_RGD_ID:7247654 12339104 XDH xanthine dehydrogenase gene DOID:784 chronic kidney disease treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:22622455|REF_RGD_ID:7247640 12339104 XDH xanthine dehydrogenase gene DOID:8283 peritonitis ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:1443884|PMID:8367813|REF_RGD_ID:13210513|REF_RGD_ID:13210579 12339104 XDH xanthine dehydrogenase gene DOID:83 cataract ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract PMID:25741868|PMID:28492532|PMID:30755392 12339104 XDH xanthine dehydrogenase gene DOID:83 cataract treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:25860848|REF_RGD_ID:13208958 12339104 XDH xanthine dehydrogenase gene DOID:9000039 Spinal Cord Injuries ISO RGD:62043 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:1649310|REF_RGD_ID:13209021 12339104 XDH xanthine dehydrogenase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12339104 XDH xanthine dehydrogenase gene DOID:9000656 Penetrating Wounds treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:8121173|REF_RGD_ID:13209015 12339104 XDH xanthine dehydrogenase gene DOID:9000998 Brain Injuries treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:26528358|REF_RGD_ID:13208950 12339104 XDH xanthine dehydrogenase gene DOID:9001390 Testis Reperfusion Injury treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:23769121|REF_RGD_ID:7247698 12339104 XDH xanthine dehydrogenase gene DOID:9001561 Pseudovaginal Perineoscrotal Hypospadias ISO RGD:1348452 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency PMID:18384427|PMID:28492532 12339104 XDH xanthine dehydrogenase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:62043 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:3460692|REF_RGD_ID:13210515 12339104 XDH xanthine dehydrogenase gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:9288448|REF_RGD_ID:13210506 12339104 XDH xanthine dehydrogenase gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:24768926|REF_RGD_ID:13209011 12339104 XDH xanthine dehydrogenase gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:62043 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22302365|REF_RGD_ID:7247644 12339104 XDH xanthine dehydrogenase gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:62335 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:19458127|REF_RGD_ID:7247651 12339104 XDH xanthine dehydrogenase gene DOID:9002231 Fetal Growth Retardation ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intrauterine growth restriction PMID:25741868|PMID:28492532|PMID:30755392 12339104 XDH xanthine dehydrogenase gene DOID:9002457 Experimental Arthritis ISO RGD:62043 D RGD:9068941 20200609 RGD protein:increased expression:brain, mitochondrion PMID:25870945|REF_RGD_ID:13208957 12339104 XDH xanthine dehydrogenase gene DOID:9002549 Shock treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:1662198|REF_RGD_ID:13210509 12339104 XDH xanthine dehydrogenase gene DOID:9002906 Multiple Organ Failure ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26968635 12339104 XDH xanthine dehydrogenase gene DOID:9002928 Colonic Neoplasms ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:3163916|REF_RGD_ID:13210519 12339104 XDH xanthine dehydrogenase gene DOID:9002955 Nerve Degeneration ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9147382 12339104 XDH xanthine dehydrogenase gene DOID:9003420 Carbon Monoxide Poisoning ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:17433579|PMID:8248931|REF_RGD_ID:13209022|REF_RGD_ID:13210748 12339104 XDH xanthine dehydrogenase gene DOID:9003646 Arterial Thrombosis treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:26374946|REF_RGD_ID:13208952 12339104 XDH xanthine dehydrogenase gene DOID:9004009 Reperfusion Injury ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12910483 12339104 XDH xanthine dehydrogenase gene DOID:9004009 Reperfusion Injury treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:23403765|REF_RGD_ID:7247700 12339104 XDH xanthine dehydrogenase gene DOID:9004237 Hyperoxic Lung Injury ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:2549869|REF_RGD_ID:13209004 12339104 XDH xanthine dehydrogenase gene DOID:9004283 Transplant Rejection treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:24768926|REF_RGD_ID:13209011 12339104 XDH xanthine dehydrogenase gene DOID:9004466 Xanthinuria, Type II ISO RGD:1348452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Xanthinuria type II PMID:10844591|PMID:16199547|PMID:17368066|PMID:17576681|PMID:18300946|PMID:18384427|PMID:18712049|PMID:20077140|PMID:21963464|PMID:22981351|PMID:23203137|PMID:24033266|PMID:25370766|PMID:25741868|PMID:26110747|PMID:26120850|PMID:26283345|PMID:26443251|PMID:26521682|PMID:27703193|PMID:28492532|PMID:30755392|PMID:32067994|PMID:32071838|PMID:9153281|PMID:9536098 12339104 XDH xanthine dehydrogenase gene DOID:9004484 Sepsis treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:19751566|REF_RGD_ID:7247648 12339104 XDH xanthine dehydrogenase gene DOID:9004610 Acute Lung Injury treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:9655743|REF_RGD_ID:13209002 12339104 XDH xanthine dehydrogenase gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:1348452 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic PMID:21719783|REF_RGD_ID:7247645 12339104 XDH xanthine dehydrogenase gene DOID:9004912 Hyperoxaluria ISO RGD:62043 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:26241473|REF_RGD_ID:13208954 12339104 XDH xanthine dehydrogenase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12339104 XDH xanthine dehydrogenase gene DOID:9005465 Renal Ischemia ISO RGD:62043 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:2253787|REF_RGD_ID:13209019 12339104 XDH xanthine dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62043 D RGD:9068941 20200609 RGD protein:increased expression:brain, heart, kidney PMID:14532905|REF_RGD_ID:1304441 12339104 XDH xanthine dehydrogenase gene DOID:9006024 Hypotension ISO RGD:62043 D RGD:9068941 20200609 RGD protein:alternative form:ileum PMID:9895379|REF_RGD_ID:13209132 12339104 XDH xanthine dehydrogenase gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:22995295|REF_RGD_ID:7247637 12339104 XDH xanthine dehydrogenase gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:62043 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:20616412|REF_RGD_ID:7247695 12339104 XDH xanthine dehydrogenase gene DOID:9006832 Puromycin Aminonucleoside Nephrosis treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:26121320|REF_RGD_ID:13208956 12339104 XDH xanthine dehydrogenase gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:62043 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23843977|REF_RGD_ID:7247697 12339104 XDH xanthine dehydrogenase gene DOID:9007095 Pneumoperitoneum ISO RGD:62043 D RGD:9068941 20200609 RGD protein:increased activity:kidney PMID:18629585|REF_RGD_ID:7247655 12339104 XDH xanthine dehydrogenase gene DOID:9007356 Eczema ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Eczema PMID:25741868|PMID:28492532|PMID:30755392 12339104 XDH xanthine dehydrogenase gene DOID:9007661 Dwarfism ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:28492532|PMID:30755392 12339104 XDH xanthine dehydrogenase gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:23010742|REF_RGD_ID:13209016 12339104 XDH xanthine dehydrogenase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:3162724|REF_RGD_ID:13209131 12339104 XDH xanthine dehydrogenase gene DOID:9008241 Xanthinuria, Type I ISO RGD:1348452 D RGD:7240710 20180130 OMIM 12339104 XDH xanthine dehydrogenase gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:1348452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis PMID:28492532 12339104 XDH xanthine dehydrogenase gene DOID:9008957 Urachal Cyst ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Urachal cyst PMID:25741868|PMID:28492532|PMID:30755392 12339104 XDH xanthine dehydrogenase gene DOID:9477 pulmonary embolism ISO RGD:1348452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2510358 12339104 XDH xanthine dehydrogenase gene DOID:9970 obesity treatment ISO RGD:62043 D RGD:9068941 20200609 RGD PMID:7616299|REF_RGD_ID:13210504 12339148 AATK apoptosis associated tyrosine kinase gene DOID:630 genetic disease ISO RGD:1317702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339162 RND3 Rho family GTPase 3 gene DOID:630 genetic disease ISO RGD:1351005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339162 RND3 Rho family GTPase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1351005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12339171 CNOT3 CCR4-NOT transcription complex subunit 3 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1312407 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:25741868 12339171 CNOT3 CCR4-NOT transcription complex subunit 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1312407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12339171 CNOT3 CCR4-NOT transcription complex subunit 3 gene DOID:1059 intellectual disability ISO RGD:1312407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12339171 CNOT3 CCR4-NOT transcription complex subunit 3 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1312407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23263491 12339171 CNOT3 CCR4-NOT transcription complex subunit 3 gene DOID:630 genetic disease ISO RGD:1312407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28518168|PMID:31474762|PMID:32461654 12339171 CNOT3 CCR4-NOT transcription complex subunit 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475|PMID:29662167 12339171 CNOT3 CCR4-NOT transcription complex subunit 3 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1312407 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:25741868 12339171 CNOT3 CCR4-NOT transcription complex subunit 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1312407 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12339171 CNOT3 CCR4-NOT transcription complex subunit 3 gene DOID:9008787 Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies ISO RGD:1312407 D RGD:7240710 20200115 OMIM 12339171 CNOT3 CCR4-NOT transcription complex subunit 3 gene DOID:9008787 Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies ISO RGD:1312407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies PMID:25741868|PMID:28492532|PMID:31201375|PMID:32720325 12339213 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1317837 D RGD:9068941 20220825 RGD protein:increased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 12339213 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:0080600 COVID-19 ISO RGD:1317837 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12339213 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:10937 impulse control disorder ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539927 12339213 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:1561 cognitive disorder ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24067299 12339213 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:1826 epilepsy ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16391389 12339213 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:480 movement disease ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10600402 12339213 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:630 genetic disease ISO RGD:1317837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339213 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12339213 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12339213 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26411935 12339213 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9005172 Lung Neoplasms ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12339213 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12657709|PMID:17898221|PMID:18539927|PMID:19331462 12339213 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9007188 Liver Neoplasms ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26411935 12339213 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9008331 Tendon Injuries treatment ISO RGD:1308198 D RGD:9068941 20200609 RGD PMID:23519232|REF_RGD_ID:10395300 12339213 FOSB FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17219962 12339219 SCARB1 scavenger receptor class B member 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23127599 12339219 SCARB1 scavenger receptor class B member 1 gene DOID:1883 hepatitis C ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17517063 12339219 SCARB1 scavenger receptor class B member 1 gene DOID:305 carcinoma ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12339219 SCARB1 scavenger receptor class B member 1 gene DOID:4450 renal cell carcinoma ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21131975 12339219 SCARB1 scavenger receptor class B member 1 gene DOID:5062 phencyclidine abuse ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 12339219 SCARB1 scavenger receptor class B member 1 gene DOID:630 genetic disease ISO RGD:735633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339219 SCARB1 scavenger receptor class B member 1 gene DOID:783 end stage renal disease ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 12339219 SCARB1 scavenger receptor class B member 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12339219 SCARB1 scavenger receptor class B member 1 gene DOID:9000528 Coronary Disease ISO RGD:735634 D RGD:9068941 20200609 RGD PMID:15967843|REF_RGD_ID:1580004 12339219 SCARB1 scavenger receptor class B member 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:735634 D RGD:9068941 20200609 RGD PMID:15967843|REF_RGD_ID:1580004 12339219 SCARB1 scavenger receptor class B member 1 gene DOID:9003370 Dyslipidemias ISO RGD:735633 D RGD:7240710 20181003 OMIM 12339219 SCARB1 scavenger receptor class B member 1 gene DOID:9003370 Dyslipidemias ISO RGD:735633 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: High density lipoprotein cholesterol level quantitative trait locus 6 PMID:21226579|PMID:21480869|PMID:25741868|PMID:26965621|PMID:28492532 12339219 SCARB1 scavenger receptor class B member 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12339219 SCARB1 scavenger receptor class B member 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 12339219 SCARB1 scavenger receptor class B member 1 gene DOID:9006379 Follicular Cyst ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20404351 12339219 SCARB1 scavenger receptor class B member 1 gene DOID:9505 cannabis abuse ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 12339263 SOAT2 sterol O-acyltransferase 2 gene DOID:10211 cholelithiasis susceptibility ISO RGD:730964 D RGD:9068941 20200609 RGD PMID:11100118|REF_RGD_ID:1556516 12339263 SOAT2 sterol O-acyltransferase 2 gene DOID:10608 celiac disease ISO RGD:730963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 12339263 SOAT2 sterol O-acyltransferase 2 gene DOID:1184 nephrotic syndrome ISO RGD:628865 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:11967026|REF_RGD_ID:730139 12339263 SOAT2 sterol O-acyltransferase 2 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:730964 D RGD:9068941 20200609 RGD PMID:17431188|REF_RGD_ID:1625282 12339263 SOAT2 sterol O-acyltransferase 2 gene DOID:3393 coronary artery disease susceptibility ISO RGD:730963 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.E41G, p.T734I, IVS4-57_-58ins48bp (human) PMID:16195894|REF_RGD_ID:1601112 12339263 SOAT2 sterol O-acyltransferase 2 gene DOID:630 genetic disease ISO RGD:730963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339263 SOAT2 sterol O-acyltransferase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730963 D RGD:9068941 20200609 RGD PMID:16274362|REF_RGD_ID:1581190 12339263 SOAT2 sterol O-acyltransferase 2 gene DOID:783 end stage renal disease ISO RGD:628865 D RGD:9068941 20200609 RGD PMID:12217884|REF_RGD_ID:625687 12339263 SOAT2 sterol O-acyltransferase 2 gene DOID:9000808 Hypercholesterolemia susceptibility ISO RGD:730964 D RGD:9068941 20200609 RGD PMID:11100118|REF_RGD_ID:1556516 12339263 SOAT2 sterol O-acyltransferase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628865 D RGD:9068941 20200609 RGD PMID:15242859|REF_RGD_ID:1581191 12339263 SOAT2 sterol O-acyltransferase 2 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:730963 D RGD:9068941 20200609 RGD DNA:SNPs PMID:14557872|REF_RGD_ID:1581921 12339285 MOS MOS proto-oncogene, serine/threonine kinase gene DOID:630 genetic disease ISO RGD:735699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339290 DRC7 dynein regulatory complex subunit 7 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604275 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12339290 DRC7 dynein regulatory complex subunit 7 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604275 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12339290 DRC7 dynein regulatory complex subunit 7 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12339290 DRC7 dynein regulatory complex subunit 7 gene DOID:630 genetic disease ISO RGD:1604275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339319 SARDH sarcosine dehydrogenase gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:735740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12339319 SARDH sarcosine dehydrogenase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:735740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12339319 SARDH sarcosine dehydrogenase gene DOID:0080324 tuberous sclerosis 1 ISO RGD:735740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12339319 SARDH sarcosine dehydrogenase gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:735740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12339319 SARDH sarcosine dehydrogenase gene DOID:0081097 Rafiq syndrome ISO RGD:735740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12339319 SARDH sarcosine dehydrogenase gene DOID:0112307 sarcosinemia ISO RGD:735740 D RGD:7240710 20180130 OMIM 12339319 SARDH sarcosine dehydrogenase gene DOID:0112307 sarcosinemia ISO RGD:735740 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY | ClinVar Annotator: match by term: Sarcosin dehydrogenase complex, deficiency of PMID:22825317|PMID:25741868|PMID:28492532 12339319 SARDH sarcosine dehydrogenase gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:735740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12339319 SARDH sarcosine dehydrogenase gene DOID:3652 Leigh disease ISO RGD:735740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12339319 SARDH sarcosine dehydrogenase gene DOID:630 genetic disease ISO RGD:735740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339319 SARDH sarcosine dehydrogenase gene DOID:684 hepatocellular carcinoma severity ISO RGD:735740 D RGD:9068941 20220616 RGD mRNA:altered expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 12339319 SARDH sarcosine dehydrogenase gene DOID:9002669 Hypoxia ISO RGD:735740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 12339351 UPK1B uroplakin 1B gene DOID:630 genetic disease ISO RGD:1317213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339351 UPK1B uroplakin 1B gene DOID:9008939 Breast Neoplasms ISO RGD:1317213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 12339366 ZNF71 zinc finger protein 71 gene DOID:630 genetic disease ISO RGD:1343724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339378 BCAS1 brain enriched myelin associated protein 1 gene DOID:630 genetic disease ISO RGD:1351231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339378 BCAS1 brain enriched myelin associated protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15583422 12339378 BCAS1 brain enriched myelin associated protein 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1351231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12339397 SERPINA12 serpin family A member 12 gene DOID:0081063 DICER1 syndrome ISO RGD:1348482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 12339397 SERPINA12 serpin family A member 12 gene DOID:630 genetic disease ISO RGD:1348482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339397 SERPINA12 serpin family A member 12 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:1348482 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:16030142|REF_RGD_ID:1547845 12339397 SERPINA12 serpin family A member 12 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:708485 D RGD:9068941 20200609 RGD PMID:16030142|REF_RGD_ID:1547845 12339397 SERPINA12 serpin family A member 12 gene DOID:9970 obesity treatment ISO RGD:708485 D RGD:9068941 20200609 RGD PMID:16030142|REF_RGD_ID:1547845 12339410 DEFB126 defensin beta 126 gene DOID:630 genetic disease ISO RGD:1352735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339415 TMEM233 transmembrane protein 233 gene DOID:630 genetic disease ISO RGD:2923596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339434 GFOD2 Gfo/Idh/MocA-like oxidoreductase domain containing 2 gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1604583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 12339434 GFOD2 Gfo/Idh/MocA-like oxidoreductase domain containing 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12339434 GFOD2 Gfo/Idh/MocA-like oxidoreductase domain containing 2 gene DOID:630 genetic disease ISO RGD:1604583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339443 PSMB11 proteasome subunit beta 11 gene DOID:0060439 lysinuric protein intolerance ISO RGD:2291820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12339443 PSMB11 proteasome subunit beta 11 gene DOID:630 genetic disease ISO RGD:2291820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339443 PSMB11 proteasome subunit beta 11 gene DOID:9000265 Specific Granule Deficiency ISO RGD:2291820 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12339443 PSMB11 proteasome subunit beta 11 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:2291820 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12339447 NREP neuronal regeneration related protein gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1351571 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12339447 NREP neuronal regeneration related protein gene DOID:0080600 COVID-19 ISO RGD:1351571 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12339447 NREP neuronal regeneration related protein gene DOID:630 genetic disease ISO RGD:1351571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339447 NREP neuronal regeneration related protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12339447 NREP neuronal regeneration related protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12339447 NREP neuronal regeneration related protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1351571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12339447 NREP neuronal regeneration related protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1351571 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12339447 NREP neuronal regeneration related protein gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12339447 NREP neuronal regeneration related protein gene DOID:9452 fatty liver disease ISO RGD:1351571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12339455 ENO2 enolase 2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:733932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12339455 ENO2 enolase 2 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:733932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12339455 ENO2 enolase 2 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:733932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12339455 ENO2 enolase 2 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:733932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12339455 ENO2 enolase 2 gene DOID:0080855 Parkinsonism ISO RGD:2554 D RGD:9068941 20200609 RGD PMID:17532790|REF_RGD_ID:2293747 12339455 ENO2 enolase 2 gene DOID:0111621 Temtamy syndrome ISO RGD:733932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12339455 ENO2 enolase 2 gene DOID:10283 prostate cancer ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:15239127|REF_RGD_ID:2293734 12339455 ENO2 enolase 2 gene DOID:10763 hypertension severity ISO RGD:733932 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21130083|REF_RGD_ID:5508770 12339455 ENO2 enolase 2 gene DOID:11054 urinary bladder cancer ISO RGD:733932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22613180 12339455 ENO2 enolase 2 gene DOID:11054 urinary bladder cancer ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:17951193|REF_RGD_ID:2293738 12339455 ENO2 enolase 2 gene DOID:11832 visual epilepsy ISO RGD:2554 D RGD:9068941 20200609 RGD protein:altered expression:cerebrospinal fluid PMID:15464860|REF_RGD_ID:5509052 12339455 ENO2 enolase 2 gene DOID:12217 Lewy body dementia ISO RGD:733932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 12339455 ENO2 enolase 2 gene DOID:12783 migraine without aura ISO RGD:733932 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21293918|REF_RGD_ID:5508769 12339455 ENO2 enolase 2 gene DOID:14115 toxic shock syndrome ISO RGD:2554 D RGD:9068941 20200609 RGD proteiin:increased expression:serum PMID:17083782|REF_RGD_ID:2293748 12339455 ENO2 enolase 2 gene DOID:14330 Parkinson's disease ISO RGD:733932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 12339455 ENO2 enolase 2 gene DOID:1800 neuroendocrine carcinoma ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:15010880|REF_RGD_ID:2293735 12339455 ENO2 enolase 2 gene DOID:3459 breast carcinoma ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:16608642|REF_RGD_ID:2293740 12339455 ENO2 enolase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21595568 12339455 ENO2 enolase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12339455 ENO2 enolase 2 gene DOID:630 genetic disease ISO RGD:733932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339455 ENO2 enolase 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2554 D RGD:9068941 20200609 RGD protein:increased expression:serum, cerebrospinal fluid PMID:18343116|REF_RGD_ID:2293743 12339455 ENO2 enolase 2 gene DOID:9000367 Multiple Trauma ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:16044081|REF_RGD_ID:2293751 12339455 ENO2 enolase 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:733932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2910524 12339455 ENO2 enolase 2 gene DOID:9002170 Experimental Neoplasms ISO RGD:733932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22613180 12339455 ENO2 enolase 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:18459456|REF_RGD_ID:2293736 12339455 ENO2 enolase 2 gene DOID:9002573 Nerve Tissue Neoplasms ISO RGD:2554 D RGD:9068941 20200609 RGD PMID:17537454|REF_RGD_ID:2293746 12339455 ENO2 enolase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:2554 D RGD:9068941 20200609 RGD PMID:17683050|REF_RGD_ID:2293745 12339455 ENO2 enolase 2 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:18156975|REF_RGD_ID:2293737 12339455 ENO2 enolase 2 gene DOID:9004462 Atrophy severity ISO RGD:733932 D RGD:9068941 20200609 RGD associated with Alzheimer Disease PMID:20105309|REF_RGD_ID:5508787 12339455 ENO2 enolase 2 gene DOID:9004643 Urologic Neoplasms ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:12656306|REF_RGD_ID:2293741 12339455 ENO2 enolase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2554 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:15780189|REF_RGD_ID:2293753 12339455 ENO2 enolase 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22613180 12339455 ENO2 enolase 2 gene DOID:9007787 Carcinoid Tumor ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:17345775|REF_RGD_ID:2293739 12339455 ENO2 enolase 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:733932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12339455 ENO2 enolase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:733932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12339455 ENO2 enolase 2 gene DOID:936 brain disease disease_progression ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:20847541|REF_RGD_ID:5508782 12339471 MIR187 microRNA mir-187 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1343777 D RGD:9068941 20200609 RGD RNA:increased expression:plasma PMID:27542258|REF_RGD_ID:14390167 12339471 MIR187 microRNA mir-187 gene DOID:1059 intellectual disability ISO RGD:1343777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12339471 MIR187 microRNA mir-187 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1343777 D RGD:9068941 20200609 RGD associated with oral squamous cell carcinoma; RNA:increased expression:plasma PMID:27542258|REF_RGD_ID:14390167 12339516 TRIM36 tripartite motif containing 36 gene DOID:0060668 anencephaly ISO RGD:1318648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anencephaly PMID:28087737 12339516 TRIM36 tripartite motif containing 36 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318648 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12339516 TRIM36 tripartite motif containing 36 gene DOID:12849 autistic disorder ISO RGD:1318648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epsilon-trimethyllysine hydroxylase deficiency PMID:21681106|PMID:30208311 12339516 TRIM36 tripartite motif containing 36 gene DOID:630 genetic disease ISO RGD:1318648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339516 TRIM36 tripartite motif containing 36 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12339516 TRIM36 tripartite motif containing 36 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318648 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12339516 TRIM36 tripartite motif containing 36 gene DOID:9009020 Anencephaly 1 ISO RGD:1318648 D RGD:7240710 20210728 OMIM 12339516 TRIM36 tripartite motif containing 36 gene DOID:9009020 Anencephaly 1 ISO RGD:1318648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anencephaly 1 PMID:25741868 12339532 MEGF10 multiple EGF like domains 10 gene DOID:0080000 muscular disease ISO RGD:1601732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22101682 12339532 MEGF10 multiple EGF like domains 10 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12339532 MEGF10 multiple EGF like domains 10 gene DOID:0111333 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome ISO RGD:1601732 D RGD:7240710 20180130 OMIM 12339532 MEGF10 multiple EGF like domains 10 gene DOID:0111333 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome ISO RGD:1601732 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 10A, SEVERE VARIANT | ClinVar Annotator: match by term: CONGENITAL MYOPATHY 10B, MILD VARIANT | ClinVar Annotator: match by term: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset PMID:16199547|PMID:17236770|PMID:17576681|PMID:22101682|PMID:22371254|PMID:23453856|PMID:23954233|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26802438|PMID:27460346|PMID:28492532|PMID:28498977|PMID:29128256|PMID:31127727|PMID:31501239|PMID:36349186|PMID:9536098 12339532 MEGF10 multiple EGF like domains 10 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:1601732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22101682 12339532 MEGF10 multiple EGF like domains 10 gene DOID:630 genetic disease ISO RGD:1601732 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12339532 MEGF10 multiple EGF like domains 10 gene DOID:9000123 Deglutition Disorders ISO RGD:1601732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22101682 12339532 MEGF10 multiple EGF like domains 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12339532 MEGF10 multiple EGF like domains 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12339576 SRSF4 serine and arginine rich splicing factor 4 gene DOID:14250 Down syndrome ISO RGD:1350526 D RGD:9068941 20200609 RGD protein:increased expression:amniotic fluid (human) PMID:16847874|REF_RGD_ID:11039402 12339576 SRSF4 serine and arginine rich splicing factor 4 gene DOID:234 colon adenocarcinoma ISO RGD:1350526 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon mucosa (human) PMID:9865741|REF_RGD_ID:11039405 12339576 SRSF4 serine and arginine rich splicing factor 4 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1350526 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney (human) PMID:21082031|REF_RGD_ID:11039407 12339576 SRSF4 serine and arginine rich splicing factor 4 gene DOID:630 genetic disease ISO RGD:1350526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339576 SRSF4 serine and arginine rich splicing factor 4 gene DOID:9119 acute myeloid leukemia ISO RGD:1350526 D RGD:9068941 20200609 RGD mRNA:decreased expression: (human) PMID:22722453|REF_RGD_ID:11039059 12339585 TCEA2 transcription elongation factor A2 gene DOID:630 genetic disease ISO RGD:731353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339585 TCEA2 transcription elongation factor A2 gene DOID:9119 acute myeloid leukemia ISO RGD:731353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12339601 TEX261 testis expressed 261 gene DOID:543 dystonia ISO RGD:1346300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12339601 TEX261 testis expressed 261 gene DOID:630 genetic disease ISO RGD:1346300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339601 TEX261 testis expressed 261 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1346300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12339611 STX17 syntaxin 17 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1352651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 12339611 STX17 syntaxin 17 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1352651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 12339611 STX17 syntaxin 17 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1352651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 12339611 STX17 syntaxin 17 gene DOID:1059 intellectual disability ISO RGD:1352651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12339611 STX17 syntaxin 17 gene DOID:12712 nephronophthisis ISO RGD:1352651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 12339611 STX17 syntaxin 17 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1352651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 12339611 STX17 syntaxin 17 gene DOID:1909 melanoma ISO RGD:1352651 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18641652 12339611 STX17 syntaxin 17 gene DOID:630 genetic disease ISO RGD:1352651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339611 STX17 syntaxin 17 gene DOID:986 alopecia areata ISO RGD:1352651 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20596022 12339623 LMBR1 limb development membrane protein 1 gene DOID:0050603 acheiropody ISO RGD:1352056 D RGD:7240710 20180130 OMIM 12339623 LMBR1 limb development membrane protein 1 gene DOID:0050603 acheiropody ISO RGD:1352056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acheiropodia PMID:11090342|PMID:33863876 12339623 LMBR1 limb development membrane protein 1 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1352056 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:22354285|PMID:22683912|PMID:23370340|PMID:24095820|PMID:28284480|PMID:28492532|PMID:28588853|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32677110 12339623 LMBR1 limb development membrane protein 1 gene DOID:0111350 Laurin-Sandrow syndrome ISO RGD:1352056 D RGD:7240710 20180130 OMIM 12339623 LMBR1 limb development membrane protein 1 gene DOID:0111350 Laurin-Sandrow syndrome ISO RGD:1352056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Laurin-Sandrow syndrome PMID:16059937|PMID:24456159 12339623 LMBR1 limb development membrane protein 1 gene DOID:0111564 hypoplastic or aplastic tibia with polydactyly ISO RGD:1352056 D RGD:7240710 20180130 OMIM 12339623 LMBR1 limb development membrane protein 1 gene DOID:0111564 hypoplastic or aplastic tibia with polydactyly ISO RGD:1352056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tibia, hypoplasia or aplasia of, with polydactyly PMID:12837695|PMID:18156157|PMID:19847792|PMID:24777739|PMID:24965254|PMID:28492532|PMID:29651423|PMID:7726219|PMID:9950363 12339623 LMBR1 limb development membrane protein 1 gene DOID:0111818 syndactyly type 4 ISO RGD:1352056 D RGD:7240710 20180130 OMIM 12339623 LMBR1 limb development membrane protein 1 gene DOID:0111818 syndactyly type 4 ISO RGD:1352056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndactyly type 4 PMID:18417549|PMID:1849351|PMID:19847792 12339623 LMBR1 limb development membrane protein 1 gene DOID:12849 autistic disorder ISO RGD:1352056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12339623 LMBR1 limb development membrane protein 1 gene DOID:630 genetic disease ISO RGD:1352056 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12339623 LMBR1 limb development membrane protein 1 gene DOID:9001425 Triphalangeal Thumb ISO RGD:1352056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Triphalangeal thumb PMID:10937618|PMID:12837695|PMID:17152067|PMID:18463159|PMID:24777739|PMID:28492532|PMID:29651423 12339623 LMBR1 limb development membrane protein 1 gene DOID:9003769 Patterson Stevenson Syndrome ISO RGD:1352056 D RGD:7240710 20221102 OMIM 12339623 LMBR1 limb development membrane protein 1 gene DOID:9003769 Patterson Stevenson Syndrome ISO RGD:1352056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB | ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME | ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome PMID:10937618|PMID:12837695|PMID:17152067|PMID:17300748|PMID:18178630|PMID:18417549|PMID:18463159|PMID:19519794|PMID:20569257|PMID:24777739|PMID:28492532|PMID:29651423|PMID:8012392 12339623 LMBR1 limb development membrane protein 1 gene DOID:9007798 Preaxial Polydactyly II ISO RGD:1352056 D RGD:7240710 20180130 OMIM 12339623 LMBR1 limb development membrane protein 1 gene DOID:9007798 Preaxial Polydactyly II ISO RGD:1352056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB | ClinVar Annotator: match by term: Polydactyly, preaxial II PMID:10937618|PMID:12837695|PMID:17152067|PMID:18463159|PMID:19519794|PMID:20569257|PMID:24777739|PMID:28492532|PMID:29651423|PMID:8012392 12339646 INO80B INO80 complex subunit B gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1347975 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12339646 INO80B INO80 complex subunit B gene DOID:543 dystonia ISO RGD:1347975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12339646 INO80B INO80 complex subunit B gene DOID:630 genetic disease ISO RGD:1347975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339646 INO80B INO80 complex subunit B gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1347975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12339655 H3C13 H3 clustered histone 13 gene DOID:1540 parathyroid carcinoma ISO RGD:1604125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12339655 H3C13 H3 clustered histone 13 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12339665 SLC16A5 solute carrier family 16 member 5 gene DOID:630 genetic disease ISO RGD:1351583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339677 TENM4 teneurin transmembrane protein 4 gene DOID:0111432 essential tremor 5 ISO RGD:1312224 D RGD:7240710 20190315 OMIM 12339677 TENM4 teneurin transmembrane protein 4 gene DOID:0111432 essential tremor 5 ISO RGD:1312224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor, hereditary essential, 5 PMID:25741868|PMID:26188006 12339677 TENM4 teneurin transmembrane protein 4 gene DOID:1059 intellectual disability ISO RGD:1312224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12339677 TENM4 teneurin transmembrane protein 4 gene DOID:3312 bipolar disorder ISO RGD:1312224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21926972 12339677 TENM4 teneurin transmembrane protein 4 gene DOID:630 genetic disease ISO RGD:1312224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12339677 TENM4 teneurin transmembrane protein 4 gene DOID:674 cleft palate ISO RGD:1312224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate 12339722 MMP15 matrix metallopeptidase 15 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318995 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12339722 MMP15 matrix metallopeptidase 15 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318995 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12339722 MMP15 matrix metallopeptidase 15 gene DOID:10283 prostate cancer disease_progression ISO RGD:1318995 D RGD:9068941 20200609 RGD PMID:15928670|REF_RGD_ID:2290417 12339722 MMP15 matrix metallopeptidase 15 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1318995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12339722 MMP15 matrix metallopeptidase 15 gene DOID:2671 transitional cell carcinoma ISO RGD:1318995 D RGD:9068941 20200609 RGD PMID:9751409|REF_RGD_ID:2314950 12339722 MMP15 matrix metallopeptidase 15 gene DOID:630 genetic disease ISO RGD:1318995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339722 MMP15 matrix metallopeptidase 15 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318995 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12339722 MMP15 matrix metallopeptidase 15 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:1308937 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19595018|REF_RGD_ID:2314952 12339722 MMP15 matrix metallopeptidase 15 gene DOID:9003281 Spontaneous Abortions ISO RGD:1318995 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12339722 MMP15 matrix metallopeptidase 15 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1318996 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:15895410|REF_RGD_ID:2314949 12339736 TXLNA taxilin alpha gene DOID:630 genetic disease ISO RGD:1603882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339751 RPUSD2 RNA pseudouridine synthase domain containing 2 gene DOID:2717 Bloom syndrome ISO RGD:1343031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12339751 RPUSD2 RNA pseudouridine synthase domain containing 2 gene DOID:630 genetic disease ISO RGD:1343031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339751 RPUSD2 RNA pseudouridine synthase domain containing 2 gene DOID:9256 colorectal cancer ISO RGD:1343031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 12339758 CSTF2 cleavage stimulation factor subunit 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12339758 CSTF2 cleavage stimulation factor subunit 2 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1351144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:21053371|PMID:23712037|PMID:27179713|PMID:28492532|PMID:29377098 12339758 CSTF2 cleavage stimulation factor subunit 2 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1351144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 12339758 CSTF2 cleavage stimulation factor subunit 2 gene DOID:12849 autistic disorder ISO RGD:1351144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12339758 CSTF2 cleavage stimulation factor subunit 2 gene DOID:630 genetic disease ISO RGD:1351144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339758 CSTF2 cleavage stimulation factor subunit 2 gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1351144 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 12339784 RAB36 RAB36, member RAS oncogene family gene DOID:11198 DiGeorge syndrome ISO RGD:1347973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 12339784 RAB36 RAB36, member RAS oncogene family gene DOID:5419 schizophrenia ISO RGD:1347973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12339784 RAB36 RAB36, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1347973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339800 VAMP8 vesicle associated membrane protein 8 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1347649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 12339800 VAMP8 vesicle associated membrane protein 8 gene DOID:305 carcinoma ISO RGD:1347649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12339800 VAMP8 vesicle associated membrane protein 8 gene DOID:3393 coronary artery disease ISO RGD:1347649 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 12339800 VAMP8 vesicle associated membrane protein 8 gene DOID:630 genetic disease ISO RGD:1347649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339800 VAMP8 vesicle associated membrane protein 8 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1347649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12339800 VAMP8 vesicle associated membrane protein 8 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12339807 EYA2 EYA transcriptional coactivator and phosphatase 2 gene DOID:2234 focal epilepsy ISO RGD:1350703 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12339807 EYA2 EYA transcriptional coactivator and phosphatase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12339807 EYA2 EYA transcriptional coactivator and phosphatase 2 gene DOID:630 genetic disease ISO RGD:1350703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12339830 RARRES1 retinoic acid receptor responder 1 gene DOID:0050873 follicular lymphoma ISO RGD:1551283 D RGD:9068941 20220825 MouseDO OMIM:151430 12339830 RARRES1 retinoic acid receptor responder 1 gene DOID:630 genetic disease ISO RGD:1319886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339830 RARRES1 retinoic acid receptor responder 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1319886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16134180 12339830 RARRES1 retinoic acid receptor responder 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12339837 FXYD3 FXYD domain containing ion transport regulator 3 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1348403 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12339837 FXYD3 FXYD domain containing ion transport regulator 3 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1348403 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12339837 FXYD3 FXYD domain containing ion transport regulator 3 gene DOID:1793 pancreatic cancer ISO RGD:1348403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16003754 12339837 FXYD3 FXYD domain containing ion transport regulator 3 gene DOID:543 dystonia ISO RGD:1348403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12339837 FXYD3 FXYD domain containing ion transport regulator 3 gene DOID:630 genetic disease ISO RGD:1348403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339837 FXYD3 FXYD domain containing ion transport regulator 3 gene DOID:9775 diastolic heart failure ISO RGD:1348403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12339868 MIR15A microRNA mir-15a gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1354361 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21056550 12339868 MIR15A microRNA mir-15a gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1354361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12339868 MIR15A microRNA mir-15a gene DOID:1059 intellectual disability ISO RGD:1354361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12339868 MIR15A microRNA mir-15a gene DOID:13207 proliferative diabetic retinopathy ISO RGD:1354361 D RGD:9068941 20230202 RGD miRNA:increased expression:vitreous humor (human) PMID:24970617|REF_RGD_ID:155882576 12339868 MIR15A microRNA mir-15a gene DOID:4989 pancreatitis ISO RGD:1354361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12339868 MIR15A microRNA mir-15a gene DOID:6000 congestive heart failure ISO RGD:1354361 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12339868 MIR15A microRNA mir-15a gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1354361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12339905 CLDN2 claudin 2 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1352349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 12339905 CLDN2 claudin 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12339905 CLDN2 claudin 2 gene DOID:12336 male infertility ISO RGD:1352349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility PMID:31320686 12339905 CLDN2 claudin 2 gene DOID:12849 autistic disorder ISO RGD:1352349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12339905 CLDN2 claudin 2 gene DOID:4989 pancreatitis ISO RGD:1352349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143602 12339905 CLDN2 claudin 2 gene DOID:630 genetic disease ISO RGD:1352349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339905 CLDN2 claudin 2 gene DOID:9004144 AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS ISO RGD:1352349 D RGD:7240710 20210414 OMIM 12339905 CLDN2 claudin 2 gene DOID:9004144 AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS ISO RGD:1352349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia, obstructive, with nephrolithiasis PMID:31320686 12339926 CENPP centromere protein P gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1603809 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 12339926 CENPP centromere protein P gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1603809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 12339926 CENPP centromere protein P gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1603809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 12339926 CENPP centromere protein P gene DOID:630 genetic disease ISO RGD:1603809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339938 RPL14 ribosomal protein L14 gene DOID:14330 Parkinson's disease ISO RGD:733020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18353766 12339938 RPL14 ribosomal protein L14 gene DOID:4450 renal cell carcinoma ISO RGD:733020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 12339938 RPL14 ribosomal protein L14 gene DOID:630 genetic disease ISO RGD:733020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339938 RPL14 ribosomal protein L14 gene DOID:9074 systemic lupus erythematosus ISO RGD:733020 D RGD:9068941 20200609 RGD PMID:12051391|REF_RGD_ID:11036103 12339948 UBR4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1350466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12339948 UBR4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1350466 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12339948 UBR4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1350466 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12339948 UBR4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1350466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12339948 UBR4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:2843 long QT syndrome ISO RGD:1350466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12339948 UBR4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:5426 primary ovarian insufficiency ISO RGD:1350466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12339948 UBR4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:630 genetic disease ISO RGD:1350466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12339948 UBR4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12339948 UBR4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1350466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12339948 UBR4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:9007661 Dwarfism ISO RGD:1350466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12339948 UBR4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:9008582 Developmental Disease ISO RGD:1350466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12340069 MYO3B myosin IIIB gene DOID:630 genetic disease ISO RGD:1352249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12340125 RLBP1 retinaldehyde binding protein 1 gene DOID:0050683 Bothnia retinal dystrophy ISO RGD:1320101 D RGD:7240710 20180130 OMIM 12340125 RLBP1 retinaldehyde binding protein 1 gene DOID:0050683 Bothnia retinal dystrophy ISO RGD:1320101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bothnia retinal dystrophy | ClinVar Annotator: match by term: VASTERBOTTEN DYSTROPHY PMID:10102298|PMID:10102299|PMID:11449319|PMID:12536144|PMID:15234312|PMID:15953459|PMID:19846785|PMID:20238024|PMID:22171637|PMID:22183382|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28492532|PMID:32188692 12340125 RLBP1 retinaldehyde binding protein 1 gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:1320101 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:11301032|PMID:21447491|PMID:2392416|PMID:25429852|PMID:28492532 12340125 RLBP1 retinaldehyde binding protein 1 gene DOID:0111015 Newfoundland cone-rod dystrophy ISO RGD:1320101 D RGD:7240710 20180130 OMIM 12340125 RLBP1 retinaldehyde binding protein 1 gene DOID:0111015 Newfoundland cone-rod dystrophy ISO RGD:1320101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Newfoundland cone-rod dystrophy PMID:10102298|PMID:10102299|PMID:11301032|PMID:11449319|PMID:11868161|PMID:15953459|PMID:16199547|PMID:17576681|PMID:21447491|PMID:22171637|PMID:2392416|PMID:23929416|PMID:24265693|PMID:25356976|PMID:25429852|PMID:25741868|PMID:28492532|PMID:28559085|PMID:31872526|PMID:32188692|PMID:34410188|PMID:34795310|PMID:9536098 12340125 RLBP1 retinaldehyde binding protein 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1320101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12340125 RLBP1 retinaldehyde binding protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320101 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10102298|PMID:10102299|PMID:11449319|PMID:11453974|PMID:12536144|PMID:14718298|PMID:15953459|PMID:17065479|PMID:18344446|PMID:19846785|PMID:20238024|PMID:22164218|PMID:22171637|PMID:22183382|PMID:22551409|PMID:22559933|PMID:23105016|PMID:23929416|PMID:24265693|PMID:25307992|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30718709|PMID:32188692|PMID:33188265|PMID:34410188|PMID:34795310|PMID:9326942 12340125 RLBP1 retinaldehyde binding protein 1 gene DOID:11105 fundus albipunctatus ISO RGD:1320101 D RGD:7240710 20180130 OMIM 12340125 RLBP1 retinaldehyde binding protein 1 gene DOID:11105 fundus albipunctatus ISO RGD:1320101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens PMID:10102298|PMID:10102299|PMID:11449319|PMID:11453974|PMID:11868161|PMID:12536144|PMID:15234312|PMID:15953459|PMID:18344446|PMID:19846785|PMID:20238024|PMID:22171637|PMID:22183382|PMID:22551409|PMID:22559933|PMID:23105016|PMID:25307992|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:32188692|PMID:33188265|PMID:9326942 12340125 RLBP1 retinaldehyde binding protein 1 gene DOID:11105 fundus albipunctatus ISO RGD:1320101 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens PMID:10102298|PMID:10102299|PMID:11449319|PMID:11453974|PMID:11868161|PMID:12536144|PMID:14718298|PMID:15234312|PMID:15953459|PMID:17576681|PMID:18344446|PMID:19846785|PMID:20238024|PMID:22171637|PMID:22183382|PMID:22551409|PMID:22559933|PMID:23105016|PMID:24265693|PMID:25307992|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:32188692|PMID:33188265|PMID:34795310|PMID:9326942|PMID:9536098 12340125 RLBP1 retinaldehyde binding protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1320101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12340125 RLBP1 retinaldehyde binding protein 1 gene DOID:4448 macular degeneration ISO RGD:1320101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30742112 12340125 RLBP1 retinaldehyde binding protein 1 gene DOID:630 genetic disease ISO RGD:1320101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12340125 RLBP1 retinaldehyde binding protein 1 gene DOID:8499 night blindness ISO RGD:1320101 D RGD:9068941 20200609 RGD Fundus albipunctatus, OMIM:180090 PMID:11453974|REF_RGD_ID:1599620 12340125 RLBP1 retinaldehyde binding protein 1 gene DOID:8501 fundus dystrophy ISO RGD:1320101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10102299|PMID:11301032|PMID:12536144|PMID:18344446|PMID:21447491|PMID:22551409|PMID:2392416|PMID:23929416|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:32188692 12340125 RLBP1 retinaldehyde binding protein 1 gene DOID:9002525 Hereditary Eye Diseases ISO RGD:1320101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16968212 12340125 RLBP1 retinaldehyde binding protein 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1320101 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25326637|PMID:25741868|PMID:26355662|PMID:28492532|PMID:32188692 12340125 RLBP1 retinaldehyde binding protein 1 gene DOID:9256 colorectal cancer ISO RGD:1320101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12340149 CFAP70 cilia and flagella associated protein 70 gene DOID:0111912 spermatogenic failure 41 ISO RGD:1316851 D RGD:7240710 20191211 OMIM 12340149 CFAP70 cilia and flagella associated protein 70 gene DOID:0111912 spermatogenic failure 41 ISO RGD:1316851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 41 PMID:31621862 12340149 CFAP70 cilia and flagella associated protein 70 gene DOID:630 genetic disease ISO RGD:1316851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12340198 IFNB1 interferon beta 1 gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:1552719 D RGD:9068941 20201211 RGD PMID:15670795|REF_RGD_ID:40902819 12340198 IFNB1 interferon beta 1 gene DOID:0080599 Coronavirus infectious disease ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24323636 12340198 IFNB1 interferon beta 1 gene DOID:0080600 COVID-19 treatment ISO RGD:736615 D RGD:9068941 20200618 RGD PMID:32401715|REF_RGD_ID:30296675 12340198 IFNB1 interferon beta 1 gene DOID:0080642 Middle East respiratory syndrome disease_progression ISO RGD:1552719 D RGD:9068941 20200618 RGD PMID:30626685|REF_RGD_ID:30309198 12340198 IFNB1 interferon beta 1 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:736615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 12340198 IFNB1 interferon beta 1 gene DOID:11054 urinary bladder cancer ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2297754 12340198 IFNB1 interferon beta 1 gene DOID:1909 melanoma ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16928243|PMID:21846298 12340198 IFNB1 interferon beta 1 gene DOID:2043 hepatitis B ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15994231 12340198 IFNB1 interferon beta 1 gene DOID:2377 multiple sclerosis ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10520943|PMID:12424511|PMID:12432978|PMID:23517930|PMID:27806875 12340198 IFNB1 interferon beta 1 gene DOID:2671 transitional cell carcinoma ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2297754 12340198 IFNB1 interferon beta 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1552719 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 12340198 IFNB1 interferon beta 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15200845|PMID:26861016 12340198 IFNB1 interferon beta 1 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1552719 D RGD:9068941 20200702 RGD PMID:32553273|REF_RGD_ID:32716426 12340198 IFNB1 interferon beta 1 gene DOID:4359 amelanotic melanoma ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15990972 12340198 IFNB1 interferon beta 1 gene DOID:4551 anus benign neoplasm ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12170190|PMID:12397731 12340198 IFNB1 interferon beta 1 gene DOID:5419 schizophrenia ISO RGD:736615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12340198 IFNB1 interferon beta 1 gene DOID:630 genetic disease ISO RGD:736615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12340198 IFNB1 interferon beta 1 gene DOID:769 neuroblastoma ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16115947 12340198 IFNB1 interferon beta 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2297754 12340198 IFNB1 interferon beta 1 gene DOID:9004118 Experimental Melanoma ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16417267 12340198 IFNB1 interferon beta 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18608205 12340198 IFNB1 interferon beta 1 gene DOID:936 brain disease ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8615598 12340201 BACH2 BTB domain and CNC homolog 2 gene DOID:0111954 immunodeficiency 60 ISO RGD:1319503 D RGD:7240710 20190515 OMIM 12340201 BACH2 BTB domain and CNC homolog 2 gene DOID:0111954 immunodeficiency 60 ISO RGD:1319503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 60 PMID:25741868|PMID:28492532|PMID:28530713 12340201 BACH2 BTB domain and CNC homolog 2 gene DOID:10608 celiac disease ISO RGD:1319503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 12340201 BACH2 BTB domain and CNC homolog 2 gene DOID:12306 vitiligo ISO RGD:1319503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 12340201 BACH2 BTB domain and CNC homolog 2 gene DOID:630 genetic disease ISO RGD:1319503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12340201 BACH2 BTB domain and CNC homolog 2 gene DOID:8778 Crohn's disease ISO RGD:1319503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 12340201 BACH2 BTB domain and CNC homolog 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1319503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21441929 12340201 BACH2 BTB domain and CNC homolog 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1319503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18978792 12340219 SPOCK3 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 3 gene DOID:630 genetic disease ISO RGD:1313840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12340232 BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:1059 intellectual disability ISO RGD:734102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12340232 BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:1339 Diamond-Blackfan anemia ISO RGD:734102 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12340232 BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:1342 congenital hypoplastic anemia ISO RGD:734102 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12340232 BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:2340 craniosynostosis ISO RGD:734102 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12340232 BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:630 genetic disease ISO RGD:734102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11507102|PMID:11825067|PMID:12888983|PMID:1356170|PMID:14517957|PMID:14567968|PMID:16468966|PMID:16472748|PMID:16786533|PMID:1682165|PMID:17329260|PMID:17922217|PMID:1867199|PMID:1885764|PMID:1943689|PMID:20136525|PMID:20301495|PMID:21098507|PMID:2241958|PMID:22593002|PMID:22727569|PMID:25333063|PMID:25741868|PMID:26257134|PMID:26830710|PMID:2703538|PMID:28170084|PMID:28492532|PMID:31980395|PMID:31998365|PMID:32812330|PMID:33300147|PMID:8037208|PMID:9582350 12340232 BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:734102 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12340232 BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2196 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:9460082|REF_RGD_ID:1599467 12340232 BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9008834 Maple Syrup Urine Disease, Type 1A ISO RGD:734102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease type 1A PMID:10694918|PMID:10745006|PMID:11069910|PMID:11507102|PMID:11825067|PMID:12888983|PMID:1356170|PMID:14517957|PMID:14567968|PMID:14742428|PMID:16199547|PMID:16468966|PMID:16472748|PMID:16786533|PMID:1682165|PMID:17329260|PMID:17576681|PMID:17922217|PMID:18378174|PMID:1867199|PMID:1885764|PMID:1943689|PMID:19456321|PMID:19480318|PMID:19715473|PMID:20136525|PMID:20301495|PMID:20431954|PMID:20852892|PMID:21098507|PMID:21228398|PMID:21844576|PMID:2241958|PMID:22593002|PMID:22727569|PMID:23765052|PMID:24374108|PMID:25087612|PMID:25255367|PMID:25333063|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26786177|PMID:26830710|PMID:26901124|PMID:2703538|PMID:27403441|PMID:28170084|PMID:28417071|PMID:28492532|PMID:29306928|PMID:29740775|PMID:31112740|PMID:31119508|PMID:31523617|PMID:31980395|PMID:31998365|PMID:32193832|PMID:32812330|PMID:33300147|PMID:7883996|PMID:8037208|PMID:8161368|PMID:9536098|PMID:9582350 12340232 BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9269 maple syrup urine disease ISO RGD:734102 D RGD:7240710 20180130 OMIM 12340232 BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9269 maple syrup urine disease ISO RGD:734102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant PMID:10694918|PMID:10745006|PMID:11069910|PMID:11448970|PMID:11507102|PMID:11825067|PMID:12888983|PMID:1356170|PMID:14517957|PMID:14567968|PMID:16199547|PMID:16468966|PMID:16786533|PMID:1682165|PMID:17576681|PMID:17922217|PMID:18378174|PMID:1867199|PMID:1885764|PMID:1943689|PMID:19456321|PMID:19480318|PMID:19715473|PMID:20136525|PMID:20431954|PMID:20852892|PMID:21098507|PMID:21228398|PMID:21844576|PMID:22145486|PMID:2241958|PMID:22593002|PMID:22727569|PMID:23757202|PMID:23765052|PMID:24033266|PMID:24374108|PMID:24772966|PMID:25087612|PMID:25255367|PMID:25333063|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26786177|PMID:26830710|PMID:26901124|PMID:26937410|PMID:2703538|PMID:27403441|PMID:28170084|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29740775|PMID:31112740|PMID:31119508|PMID:31523617|PMID:31980395|PMID:32193832|PMID:7883996|PMID:8037208|PMID:8161368|PMID:9536098|PMID:9582350 12340232 BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9269 maple syrup urine disease ISO RGD:734102 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant PMID:10694918|PMID:10745006|PMID:11069910|PMID:11448970|PMID:11507102|PMID:11825067|PMID:12888983|PMID:1356170|PMID:14517957|PMID:14567968|PMID:16199547|PMID:16468966|PMID:16786533|PMID:1682165|PMID:17576681|PMID:17922217|PMID:18378174|PMID:1867199|PMID:1885764|PMID:1943689|PMID:19456321|PMID:19480318|PMID:19715473|PMID:20136525|PMID:20431954|PMID:20852892|PMID:21098507|PMID:21228398|PMID:21844576|PMID:22145486|PMID:2241958|PMID:22593002|PMID:22727569|PMID:23757202|PMID:23765052|PMID:24033266|PMID:24374108|PMID:24772966|PMID:25087612|PMID:25255367|PMID:25333063|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26786177|PMID:26830710|PMID:26901124|PMID:2703538|PMID:27403441|PMID:28170084|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29740775|PMID:31112740|PMID:31119508|PMID:31980395|PMID:32193832|PMID:7883996|PMID:8037208|PMID:8161368|PMID:9536098|PMID:9582350 12340232 BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9269 maple syrup urine disease ISO RGD:734102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease PMID:10694918|PMID:10745006|PMID:11069910|PMID:11448970|PMID:11507102|PMID:11825067|PMID:12888983|PMID:1356170|PMID:14517957|PMID:14567968|PMID:14742428|PMID:16199547|PMID:16468966|PMID:16472748|PMID:16786533|PMID:1682165|PMID:17329260|PMID:17576681|PMID:17922217|PMID:18378174|PMID:1867199|PMID:1885764|PMID:1943689|PMID:19456321|PMID:19480318|PMID:19715473|PMID:19763152|PMID:20136525|PMID:20301495|PMID:20307669|PMID:20431954|PMID:20852892|PMID:21098507|PMID:21228398|PMID:21844576|PMID:22145486|PMID:22406018|PMID:2241958|PMID:22593002|PMID:22727569|PMID:23757202|PMID:23765052|PMID:24033266|PMID:24374108|PMID:24772966|PMID:25087612|PMID:25255367|PMID:25333063|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:26901124|PMID:26937410|PMID:2703538|PMID:27403441|PMID:28170084|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29740775|PMID:30228974|PMID:31112740|PMID:31119508|PMID:31523617|PMID:31980395|PMID:31998365|PMID:32005694|PMID:32193832|PMID:32812330|PMID:33300147|PMID:34556729|PMID:7883996|PMID:8037208|PMID:8161368|PMID:9536098|PMID:9582350 12340246 LSR lipolysis stimulated lipoprotein receptor gene DOID:0110222 Brugada syndrome 5 ISO RGD:736744 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12340246 LSR lipolysis stimulated lipoprotein receptor gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:736744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12340246 LSR lipolysis stimulated lipoprotein receptor gene DOID:305 carcinoma ISO RGD:736744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 12340246 LSR lipolysis stimulated lipoprotein receptor gene DOID:543 dystonia ISO RGD:736744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12340246 LSR lipolysis stimulated lipoprotein receptor gene DOID:630 genetic disease ISO RGD:736744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12340246 LSR lipolysis stimulated lipoprotein receptor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 12340246 LSR lipolysis stimulated lipoprotein receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 12340259 PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 gene DOID:630 genetic disease ISO RGD:1344643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12340259 PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1344643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12340259 PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1344643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12340280 LOC485559 cystatin 9 (testatin) gene DOID:630 genetic disease ISO RGD:1322270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12340288 FITM2 fat storage inducing transmembrane protein 2 gene DOID:0081273 Siddiqi syndrome ISO RGD:1317034 D RGD:7240710 20191127 OMIM 12340288 FITM2 fat storage inducing transmembrane protein 2 gene DOID:0081273 Siddiqi syndrome ISO RGD:1317034 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Siddiqi syndrome PMID:25741868|PMID:28067622|PMID:30214770|PMID:30288795 12340288 FITM2 fat storage inducing transmembrane protein 2 gene DOID:2234 focal epilepsy ISO RGD:1317034 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12340288 FITM2 fat storage inducing transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:1317034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12340288 FITM2 fat storage inducing transmembrane protein 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1317034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12340294 RIMKLB ribosomal modification protein rimK like family member B gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1606518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12340294 RIMKLB ribosomal modification protein rimK like family member B gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1606518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12340294 RIMKLB ribosomal modification protein rimK like family member B gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1606518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12340294 RIMKLB ribosomal modification protein rimK like family member B gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1606518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12340294 RIMKLB ribosomal modification protein rimK like family member B gene DOID:0111621 Temtamy syndrome ISO RGD:1606518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12340294 RIMKLB ribosomal modification protein rimK like family member B gene DOID:630 genetic disease ISO RGD:1606518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12340294 RIMKLB ribosomal modification protein rimK like family member B gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1606518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12340310 FBXO6 F-box protein 6 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1352122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 12340310 FBXO6 F-box protein 6 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1352122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12340310 FBXO6 F-box protein 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1352122 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12340310 FBXO6 F-box protein 6 gene DOID:630 genetic disease ISO RGD:1352122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12340310 FBXO6 F-box protein 6 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1352122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 12340319 IGSF9 immunoglobulin superfamily member 9 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1312078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12340319 IGSF9 immunoglobulin superfamily member 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1312078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12340319 IGSF9 immunoglobulin superfamily member 9 gene DOID:630 genetic disease ISO RGD:1312078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12340319 IGSF9 immunoglobulin superfamily member 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12340346 GRPEL1 GrpE like 1, mitochondrial gene DOID:3525 middle cerebral artery infarction ISO RGD:70947 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:12505684|REF_RGD_ID:632868 12340346 GRPEL1 GrpE like 1, mitochondrial gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12340346 GRPEL1 GrpE like 1, mitochondrial gene DOID:630 genetic disease ISO RGD:1345534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12340354 HSF4 heat shock transcription factor 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1321924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12340354 HSF4 heat shock transcription factor 4 gene DOID:0110255 cataract 5 multiple types IAGP D RGD:12801476 20230308 OMIA Cataract, early onset, HSF4-related PMID:10668810|PMID:16939467|PMID:18190350|PMID:18241019|PMID:19883468|PMID:17611257|PMID:17651328|PMID:642468|PMID:827198|PMID:23683021|PMID:25894238|PMID:30650096|PMID:36848350 12340354 HSF4 heat shock transcription factor 4 gene DOID:0110255 cataract 5 multiple types ISO RGD:1321924 D RGD:7240710 20180130 OMIM 12340354 HSF4 heat shock transcription factor 4 gene DOID:0110255 cataract 5 multiple types ISO RGD:1321924 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:12089525|PMID:15959809|PMID:16199547|PMID:16876512|PMID:17576681|PMID:18941546|PMID:20421844|PMID:20670914|PMID:23329665|PMID:24045990|PMID:24637349|PMID:24975927|PMID:25741868|PMID:28492532|PMID:3233780|PMID:9536098 12340354 HSF4 heat shock transcription factor 4 gene DOID:630 genetic disease ISO RGD:1321924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12340354 HSF4 heat shock transcription factor 4 gene DOID:83 cataract ISO RGD:1321924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract PMID:25741868 12340398 DCUN1D3 defective in cullin neddylation 1 domain containing 3 gene DOID:630 genetic disease ISO RGD:1602987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12340413 MYOC myocilin gene DOID:1067 open-angle glaucoma ISO RGD:737429 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Open-angle glaucoma PMID:25741868|PMID:28492532 12340413 MYOC myocilin gene DOID:1068 juvenile glaucoma ISO RGD:737429 D RGD:7240710 20180130 OMIM 12340413 MYOC myocilin gene DOID:1068 juvenile glaucoma ISO RGD:737429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, A | ClinVar Annotator: match by term: Glaucoma of childhood | ClinVar Annotator: match by term: MYOC-Related Disorders PMID:10196380|PMID:10330365|PMID:10545602|PMID:10644174|PMID:10798654|PMID:10815160|PMID:10819638|PMID:10873982|PMID:10980537|PMID:11004290|PMID:11133859|PMID:11152659|PMID:11281418|PMID:11292420|PMID:11298682|PMID:11535458|PMID:11604506|PMID:11774072|PMID:11803488|PMID:11815346|PMID:12189160|PMID:12356829|PMID:12447164|PMID:12522550|PMID:12868033|PMID:12872267|PMID:14193667|PMID:14627955|PMID:14688426|PMID:14767915|PMID:15025728|PMID:15069026|PMID:15723004|PMID:15733270|PMID:15790895|PMID:15851979|PMID:16148883|PMID:16288197|PMID:16297911|PMID:16401791|PMID:16466712|PMID:16636654|PMID:17210859|PMID:17438518|PMID:17499207|PMID:17562996|PMID:17563717|PMID:17615537|PMID:17867509|PMID:17893664|PMID:18728751|PMID:18776955|PMID:19023451|PMID:19145250|PMID:19234343|PMID:20021252|PMID:21552496|PMID:21612213|PMID:21850185|PMID:22194650|PMID:22736945|PMID:22933836|PMID:23029558|PMID:23304066|PMID:23922489|PMID:24033266|PMID:24732711|PMID:24825108|PMID:25741868|PMID:25777973|PMID:26396484|PMID:26633542|PMID:27092720|PMID:27485216|PMID:28492532|PMID:30484747|PMID:35196929|PMID:3756132|PMID:6770678|PMID:8513321|PMID:9005853|PMID:9328473|PMID:9345106|PMID:9361308|PMID:9510647|PMID:9535666|PMID:9556305|PMID:9639450|PMID:9697688|PMID:9754180|PMID:9804137 12340413 MYOC myocilin gene DOID:1068 juvenile glaucoma susceptibility ISO RGD:737429 D RGD:9068941 20200609 RGD DNA:nonsense mutation, missense mutation, snps:exon, intron, 3' utr:multiple (human) PMID:17893664|REF_RGD_ID:7401192 12340413 MYOC myocilin gene DOID:1070 primary open angle glaucoma ISO RGD:737429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:10815160|PMID:11004290|PMID:11292420|PMID:11535458|PMID:11803488|PMID:11815346|PMID:12189160|PMID:12522550|PMID:12872267|PMID:17562996|PMID:17615537|PMID:19023451|PMID:20021252|PMID:22933836|PMID:23029558|PMID:23304066|PMID:24732711|PMID:25741868|PMID:26396484|PMID:28492532|PMID:9005853|PMID:9639450 12340413 MYOC myocilin gene DOID:1070 primary open angle glaucoma no_association ISO RGD:737429 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-1000C>G (human) PMID:12215093|REF_RGD_ID:7401240 12340413 MYOC myocilin gene DOID:1070 primary open angle glaucoma severity ISO RGD:737429 D RGD:9068941 20200609 RGD DNA:snp:cds:pT377M (human) PMID:16431959|REF_RGD_ID:7401245 12340413 MYOC myocilin gene DOID:1070 primary open angle glaucoma severity ISO RGD:737429 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-1000C>G (human) PMID:11595024|REF_RGD_ID:1600842 12340413 MYOC myocilin gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:737429 D RGD:9068941 20200609 RGD DNA:snp:cds:p.G367R (human) PMID:21655360|REF_RGD_ID:7401170 12340413 MYOC myocilin gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:737429 D RGD:9068941 20200609 RGD DNA:snps, deletion:cds:p.G326S, p.T286R, p.Y453MfsX11 (human) PMID:22879734|REF_RGD_ID:7401168 12340413 MYOC myocilin gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:737429 D RGD:9068941 20200609 RGD DNA:snps:cds:multiple (human) PMID:12189160|REF_RGD_ID:7401189 12340413 MYOC myocilin gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:737429 D RGD:9068941 20200609 RGD DNA:snps:cds:p.G12R, p.V53A, p.T353I (human) PMID:19145250|REF_RGD_ID:7401163 12340413 MYOC myocilin gene DOID:11211 buphthalmos ISO RGD:737429 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glaucoma 3, primary congenital, a, digenic PMID:12447164|PMID:15025728|PMID:15723004|PMID:15733270|PMID:16288197|PMID:16466712|PMID:17563717|PMID:22194650|PMID:22736945|PMID:25741868|PMID:28492532|PMID:35196929 12340413 MYOC myocilin gene DOID:13544 low tension glaucoma susceptibility ISO RGD:737429 D RGD:9068941 20200609 RGD DNA:Haplotype: : PMID:16148883|REF_RGD_ID:7771548 12340413 MYOC myocilin gene DOID:1540 parathyroid carcinoma ISO RGD:737429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12340413 MYOC myocilin gene DOID:1686 glaucoma ISO RGD:737429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma PMID:10196380|PMID:10330365|PMID:10545602|PMID:10798654|PMID:10980537|PMID:11004290|PMID:11133859|PMID:11152659|PMID:11281418|PMID:11298682|PMID:11803488|PMID:12189160|PMID:12356829|PMID:12442283|PMID:12872267|PMID:14688426|PMID:14764620|PMID:14767915|PMID:15790895|PMID:16148883|PMID:16466712|PMID:16636654|PMID:17438518|PMID:17893664|PMID:18776955|PMID:19145250|PMID:21552496|PMID:21850185|PMID:22736945|PMID:22933836|PMID:23029558|PMID:23922489|PMID:24033266|PMID:25741868|PMID:27485216|PMID:28492532|PMID:35196929|PMID:9535666|PMID:9772276|PMID:9804137 12340413 MYOC myocilin gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:620430 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus (rat) PMID:15610237|REF_RGD_ID:7401266 12340413 MYOC myocilin gene DOID:6000 congestive heart failure ISO RGD:737429 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12340413 MYOC myocilin gene DOID:627 severe combined immunodeficiency ISO RGD:737429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:10815160|PMID:11004290|PMID:11292420|PMID:11535458|PMID:11803488|PMID:11815346|PMID:12189160|PMID:12522550|PMID:12872267|PMID:17562996|PMID:17615537|PMID:19023451|PMID:20021252|PMID:22933836|PMID:23029558|PMID:23304066|PMID:24732711|PMID:25741868|PMID:26396484|PMID:28492532|PMID:9005853|PMID:9639450 12340413 MYOC myocilin gene DOID:630 genetic disease ISO RGD:737429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12340413 MYOC myocilin gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:737429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 12340413 MYOC myocilin gene DOID:9000998 Brain Injuries ISO RGD:620430 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex (rat) PMID:12799138|REF_RGD_ID:7401267 12340413 MYOC myocilin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737429 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12340413 MYOC myocilin gene DOID:9007708 Glaucoma 1, Open Angle, E ISO RGD:737429 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, E PMID:10196380|PMID:10545602|PMID:10798654|PMID:10980537|PMID:11004290|PMID:11298682|PMID:11604506|PMID:11774072|PMID:12189160|PMID:12356829|PMID:12872267|PMID:14688426|PMID:15851979|PMID:16466712|PMID:16636654|PMID:17438518|PMID:17615537|PMID:18776955|PMID:19145250|PMID:21552496|PMID:21612213|PMID:21850185|PMID:22933836|PMID:25741868|PMID:28492532|PMID:35196929|PMID:9535666|PMID:9804137 12340413 MYOC myocilin gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:737429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12340413 MYOC myocilin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12340413 MYOC myocilin gene DOID:9282 ocular hypertension ISO RGD:620430 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (rat) PMID:17102796|REF_RGD_ID:1601004 12340413 MYOC myocilin gene DOID:9282 ocular hypertension ISO RGD:734341 D RGD:9068941 20200609 RGD mRNA:decreased expression:eye, trabecular mesh (mouse) PMID:23322580|REF_RGD_ID:7394804 12340413 MYOC myocilin gene DOID:9282 ocular hypertension ISO RGD:737429 D RGD:9068941 20200609 RGD associated with Glaucoma, Primary Open Angle; DNA:snp:cds:p.T377M (human) PMID:20107173|REF_RGD_ID:7394831 12340413 MYOC myocilin gene DOID:9282 ocular hypertension treatment ISO RGD:734341 D RGD:9068941 20200609 RGD PMID:23322580|REF_RGD_ID:7394804 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:0050758 metabolic acidosis ISO RGD:3710 D RGD:9068941 20200609 RGD protein:increased expression:renal cortex, renal medulla (rat) PMID:19439519|REF_RGD_ID:7242944 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:737027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:0110919 hereditary spherocytosis type 4 ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis type 4 | ClinVar Annotator: match by term: Spherocytosis type 4 PMID:10403343|PMID:10745622|PMID:10766130|PMID:10926824|PMID:10942416|PMID:11155072|PMID:11208088|PMID:11380459|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:1419785|PMID:14618420|PMID:1520883|PMID:16107207|PMID:16227998|PMID:16420521|PMID:1678289|PMID:1696010|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19289107|PMID:19565014|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:21039340|PMID:2146504|PMID:2196932|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:24033266|PMID:24652967|PMID:25111073|PMID:2527366|PMID:25296721|PMID:25741868|PMID:26571219|PMID:26879370|PMID:27058983|PMID:27292444|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29572776|PMID:29627839|PMID:30192042|PMID:30230413|PMID:31122244|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:32266426|PMID:33532864|PMID:34093240|PMID:35738466|PMID:6338046|PMID:7530501|PMID:7689982|PMID:7812009|PMID:7919393|PMID:7949112|PMID:8011524|PMID:8206915|PMID:8282779|PMID:8343110|PMID:8434259|PMID:8471774|PMID:8547122|PMID:8567957|PMID:8608262|PMID:8640229|PMID:8704215|PMID:893429|PMID:8943874|PMID:9012689|PMID:9207478|PMID:9233560|PMID:9312167|PMID:9565662|PMID:9734643|PMID:9854053|PMID:9973643 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:11758 iron deficiency anemia ISO RGD:3710 D RGD:9068941 20200609 RGD protein:decreased expression:erythrocyte, membrane (rat) PMID:1317772|REF_RGD_ID:10450513 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:12365 malaria ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malaria, cerebral, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10403343|PMID:10926824|PMID:10942416|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:14618420|PMID:16107207|PMID:16420521|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19289107|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:2146504|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:24652967|PMID:25741868|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:33532864|PMID:35738466|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8434259|PMID:8704215|PMID:9207478|PMID:9312167|PMID:9854053 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:12971 hereditary spherocytosis ISO RGD:737027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spherocytosis, Dominant 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:1386 abetalipoproteinemia ISO RGD:737027 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acanthocytosis PMID:1696010|PMID:2527366|PMID:28492532|PMID:8343110 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:14219 renal tubular acidosis ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis | ClinVar Annotator: match by term: Renal tubular acidosis PMID:10403343|PMID:10926824|PMID:11934690|PMID:12750988|PMID:1378323|PMID:14618420|PMID:14734552|PMID:16107207|PMID:16420521|PMID:1722314|PMID:1737855|PMID:18524859|PMID:19229254|PMID:19289107|PMID:20151848|PMID:20421175|PMID:20799361|PMID:2146504|PMID:22126643|PMID:24652967|PMID:25741868|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:28638614|PMID:29627839|PMID:30230413|PMID:31672324|PMID:31959358|PMID:32154456|PMID:32632909|PMID:33532864|PMID:34159584|PMID:35738466|PMID:4116984|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8210309|PMID:8434259|PMID:9312167|PMID:9600966 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:1588 thrombocytopenia ISO RGD:11309 D RGD:9068941 20200609 RGD mRNA:decreased expression:erythrocyte (mouse) PMID:22279059|REF_RGD_ID:10450520 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:2373 hereditary elliptocytosis ISO RGD:737027 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary PMID:10403343|PMID:10926824|PMID:10942416|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:14618420|PMID:16107207|PMID:16420521|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:2146504|PMID:22126643|PMID:23255290|PMID:24652967|PMID:25741868|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:31147440|PMID:31672324|PMID:31959358|PMID:33532864|PMID:35738466|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8434259|PMID:8704215|PMID:9207478|PMID:9312167|PMID:9854053 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:2373 hereditary elliptocytosis ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary PMID:10403343|PMID:10926824|PMID:10942416|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:14618420|PMID:16107207|PMID:16420521|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19289107|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:2146504|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:24652967|PMID:25741868|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:33532864|PMID:35738466|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8434259|PMID:8704215|PMID:9207478|PMID:9312167|PMID:9854053 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:737027 D RGD:9068941 20200609 RGD protein:increased phosphorylation:erythrocyte (human) PMID:21246053|REF_RGD_ID:10450516 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:583 hemolytic anemia ISO RGD:737027 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:11155072|PMID:1419785|PMID:1520883|PMID:1678289|PMID:1696010|PMID:19229254|PMID:21039340|PMID:2146504|PMID:2196932|PMID:23255290|PMID:24033266|PMID:25111073|PMID:2527366|PMID:25296721|PMID:25741868|PMID:26571219|PMID:26879370|PMID:28492532|PMID:35738466|PMID:7812009|PMID:8206915|PMID:8343110|PMID:8471774|PMID:8608262|PMID:8704215|PMID:893429 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:589 congenital hemolytic anemia ISO RGD:11309 D RGD:9068941 20200609 RGD PMID:8841202|REF_RGD_ID:10450509 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:589 congenital hemolytic anemia ISO RGD:737027 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:16227998|REF_RGD_ID:10450505 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:630 genetic disease ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11934690|PMID:16420521|PMID:25741868|PMID:28492532|PMID:29627839|PMID:30230413|PMID:31959358|PMID:32154456|PMID:35738466|PMID:4116984|PMID:8210309|PMID:9312167|PMID:9600966 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:718 autoimmune hemolytic anemia ISO RGD:11309 D RGD:9068941 20200609 RGD PMID:8325343|REF_RGD_ID:10450476 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:74 hematopoietic system disease ISO RGD:737027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8343110 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:9001003 Distal Renal Tubular Acidosis, with Normal Red Cell Morphology ISO RGD:737027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal tubular acidosis, distal, with normal red cell morphology PMID:15211439 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:9003197 Vaso-occlusive Crisis ISO RGD:737027 D RGD:9068941 20200609 RGD PMID:23643401|REF_RGD_ID:11100023 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:9003936 Cardiomegaly ISO RGD:11309 D RGD:9068941 20200609 RGD associated with Anemia, Hemolytic PMID:17056673|REF_RGD_ID:10450496 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:9004970 Distal Renal Tubular Acidosis 1 ISO RGD:737027 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal renal tubular acidosis | ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Dominant | ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 1 | ClinVar Annotator: match by term: RTA, distal type, autosomal dominant PMID:10403343|PMID:10926824|PMID:10942416|PMID:11155072|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:1419785|PMID:14618420|PMID:1520883|PMID:16107207|PMID:16420521|PMID:1678289|PMID:1696010|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:21039340|PMID:2146504|PMID:2196932|PMID:22126643|PMID:23255290|PMID:24033266|PMID:24652967|PMID:25111073|PMID:2527366|PMID:25296721|PMID:25741868|PMID:26571219|PMID:26879370|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:30256676|PMID:31147440|PMID:31672324|PMID:31959358|PMID:33532864|PMID:35738466|PMID:4116984|PMID:6338046|PMID:7689982|PMID:7812009|PMID:7919393|PMID:7949112|PMID:8206915|PMID:8210309|PMID:8343110|PMID:8434259|PMID:8471774|PMID:8608262|PMID:8704215|PMID:893429|PMID:9207478|PMID:9312167|PMID:9600966|PMID:9734643|PMID:9854053 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:9004970 Distal Renal Tubular Acidosis 1 ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal renal tubular acidosis | ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Dominant | ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 1 | ClinVar Annotator: match by term: RTA, distal type, autosomal dominant | ClinVar Annotator: match by term: Renal Tubular Acidosis, Type I PMID:10403343|PMID:10926824|PMID:10942416|PMID:11155072|PMID:11934690|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:1419785|PMID:14618420|PMID:1520883|PMID:16107207|PMID:16420521|PMID:1678289|PMID:1696010|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19289107|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:21039340|PMID:2146504|PMID:2196932|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:24033266|PMID:24652967|PMID:25111073|PMID:2527366|PMID:25296721|PMID:25741868|PMID:26571219|PMID:26879370|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:30256676|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:32154456|PMID:33532864|PMID:35738466|PMID:4116984|PMID:6338046|PMID:7689982|PMID:7812009|PMID:7919393|PMID:7949112|PMID:8206915|PMID:8210309|PMID:8343110|PMID:8434259|PMID:8471774|PMID:8608262|PMID:8704215|PMID:893429|PMID:9207478|PMID:9312167|PMID:9600966|PMID:9734643|PMID:9854053 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:9005267 Potassium Deficiency ISO RGD:3710 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:renal cortex, renal medulla (rat) PMID:17804457|REF_RGD_ID:8554499 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:9005808 Distal Renal Tubular Acidosis 3, Autosomal Recessive ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing PMID:25741868|PMID:28492532|PMID:35738466 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:9006575 Vitamin E Deficiency ISO RGD:3710 D RGD:9068941 20200609 RGD protein:increased degradation:erythrocyte, membrane (rat) PMID:3458208|REF_RGD_ID:10450477 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:9007331 Alkalosis ISO RGD:3710 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:kidney: PMID:10600930|REF_RGD_ID:13208945 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:9007406 Distal Renal Tubular Acidosis ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:10403343|PMID:10926824|PMID:11934690|PMID:1378323|PMID:14618420|PMID:16107207|PMID:16420521|PMID:1722314|PMID:1737855|PMID:19229254|PMID:19289107|PMID:20151848|PMID:20421175|PMID:20799361|PMID:2146504|PMID:22126643|PMID:24652967|PMID:25741868|PMID:28188436|PMID:28492532|PMID:29627839|PMID:30230413|PMID:31672324|PMID:31959358|PMID:32154456|PMID:35738466|PMID:4116984|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8210309|PMID:8434259|PMID:9312167|PMID:9600966 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:9007818 Distal Renal Tubular Acidosis 4 with Hemolytic Anemia ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA | ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia PMID:10403343|PMID:10926824|PMID:10942416|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:14618420|PMID:15211439|PMID:16107207|PMID:16420521|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19289107|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:2146504|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:24652967|PMID:25741868|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:33532864|PMID:35738466|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8434259|PMID:8704215|PMID:9207478|PMID:9312167|PMID:9854053 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:9008560 Pseudohyperkalemia, Familial, 2, due to Red Cell Leak ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cryohydrocytosis | ClinVar Annotator: match by term: Stomatocytosis, cold-sensitive PMID:10050708|PMID:10403343|PMID:10554820|PMID:10926824|PMID:10942416|PMID:11442486|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:14618420|PMID:15142123|PMID:16107207|PMID:16227998|PMID:16420521|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19289107|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:21039340|PMID:2146504|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:24652967|PMID:25741868|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:33532864|PMID:35738466|PMID:6338046|PMID:7689982|PMID:7831176|PMID:7919393|PMID:7949112|PMID:8434259|PMID:8471774|PMID:8704215|PMID:9207478|PMID:9312167|PMID:9854053 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:9008765 Malarial Anemia severity ISO RGD:737027 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-5699T>C (human) PMID:16960783|REF_RGD_ID:10450507 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:9008912 Ovalocytosis, Malaysian-Melanesian-Filipino Type ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Elliptocytosis 4 | ClinVar Annotator: match by term: Southeast Asian ovalocytosis PMID:10403343|PMID:10926824|PMID:10942416|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:14618420|PMID:16107207|PMID:16420521|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19289107|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:2146504|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:24652967|PMID:25741868|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:33532864|PMID:35738466|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8434259|PMID:8704215|PMID:9207478|PMID:9312167|PMID:9854053 12340420 SLC4A1 solute carrier family 4 member 1 gene DOID:9009133 ACANTHOCYTOSIS ISO RGD:737027 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acanthocytosis due to band 3 ht PMID:1696010|PMID:2527366|PMID:28492532|PMID:8343110 12340451 SCARF1 scavenger receptor class F member 1 gene DOID:630 genetic disease ISO RGD:1319619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12340466 MAPK12 mitogen-activated protein kinase 12 gene DOID:0060041 autism spectrum disorder ISO RGD:731716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12340466 MAPK12 mitogen-activated protein kinase 12 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:731716 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12340466 MAPK12 mitogen-activated protein kinase 12 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:731716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12340466 MAPK12 mitogen-activated protein kinase 12 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:731716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12340466 MAPK12 mitogen-activated protein kinase 12 gene DOID:10581 metachromatic leukodystrophy ISO RGD:731716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12340466 MAPK12 mitogen-activated protein kinase 12 gene DOID:1059 intellectual disability ISO RGD:731716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12340466 MAPK12 mitogen-activated protein kinase 12 gene DOID:630 genetic disease ISO RGD:731716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12340481 GAS6 growth arrest specific 6 gene DOID:0060903 thrombosis ISO RGD:736280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11175853|PMID:15130911|PMID:15733062|PMID:16564713 12340481 GAS6 growth arrest specific 6 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:736280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12340481 GAS6 growth arrest specific 6 gene DOID:2222 factor X deficiency ISO RGD:736280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12340481 GAS6 growth arrest specific 6 gene DOID:2921 glomerulonephritis ISO RGD:61913 D RGD:9068941 20200609 RGD PMID:11290560|REF_RGD_ID:1579882 12340481 GAS6 growth arrest specific 6 gene DOID:3021 acute kidney failure ISO RGD:736280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19564549 12340481 GAS6 growth arrest specific 6 gene DOID:630 genetic disease ISO RGD:736280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12340481 GAS6 growth arrest specific 6 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12644472 12340481 GAS6 growth arrest specific 6 gene DOID:9002514 Neointima ISO RGD:61913 D RGD:9068941 20200609 RGD PMID:9758639|REF_RGD_ID:631894 12340481 GAS6 growth arrest specific 6 gene DOID:9003121 Thromboembolism ISO RGD:736280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16564713 12340481 GAS6 growth arrest specific 6 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:736280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12340481 GAS6 growth arrest specific 6 gene DOID:9003936 Cardiomegaly ISO RGD:736280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19564549 12340481 GAS6 growth arrest specific 6 gene DOID:9004484 Sepsis ISO RGD:736280 D RGD:9068941 20200609 RGD PMID:16374177|REF_RGD_ID:1579935 12340481 GAS6 growth arrest specific 6 gene DOID:9007096 Stroke ISO RGD:736280 D RGD:9068941 20200609 RGD PMID:15108283|REF_RGD_ID:1579883 12340498 NME8 NME/NM23 family member 8 gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1344206 D RGD:7240710 20180130 OMIM 12340498 NME8 NME/NM23 family member 8 gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1344206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:16199547|PMID:17360648|PMID:17576681|PMID:20301301|PMID:22499950|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 12340498 NME8 NME/NM23 family member 8 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12340498 NME8 NME/NM23 family member 8 gene DOID:630 genetic disease ISO RGD:1344206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12340498 NME8 NME/NM23 family member 8 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1344206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17360648|PMID:20301301|PMID:22499950|PMID:24033266|PMID:25741868|PMID:28492532 12340530 GLT1D1 glycosyltransferase 1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1606714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12340549 HPD 4-hydroxyphenylpyruvate dioxygenase gene DOID:0050727 tyrosinemia type III ISO RGD:731782 D RGD:7240710 20180725 OMIM 12340549 HPD 4-hydroxyphenylpyruvate dioxygenase gene DOID:0050727 tyrosinemia type III ISO RGD:731782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tyrosinemia type III PMID:10942115|PMID:17560158|PMID:19630565|PMID:23036342|PMID:25255367|PMID:25741868|PMID:28492532|PMID:28649543|PMID:31028937|PMID:31589614|PMID:32109208|PMID:32520295|PMID:9343288 12340549 HPD 4-hydroxyphenylpyruvate dioxygenase gene DOID:0111362 hawkinsinuria ISO RGD:731782 D RGD:7240710 20180130 OMIM 12340549 HPD 4-hydroxyphenylpyruvate dioxygenase gene DOID:0111362 hawkinsinuria ISO RGD:731782 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hawkinsinuria PMID:10942115|PMID:11073718|PMID:1130176|PMID:1519651|PMID:17560158|PMID:17576681|PMID:19630565|PMID:23036342|PMID:25255367|PMID:25741868|PMID:26226126|PMID:28492532|PMID:28649543|PMID:30984715|PMID:31028937|PMID:31589614|PMID:32520295|PMID:858207|PMID:9536098 12340549 HPD 4-hydroxyphenylpyruvate dioxygenase gene DOID:630 genetic disease ISO RGD:731782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12340549 HPD 4-hydroxyphenylpyruvate dioxygenase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942|PMID:22872058 12340549 HPD 4-hydroxyphenylpyruvate dioxygenase gene DOID:9008086 Developmental Disabilities ISO RGD:731782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 12340549 HPD 4-hydroxyphenylpyruvate dioxygenase gene DOID:9275 tyrosinemia ISO RGD:731782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertyrosinemia 12340574 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:0060476 Perlman syndrome ISO RGD:1314368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12340574 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:0110118 Leber congenital amaurosis 16 ISO RGD:1314368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 16 PMID:18179896|PMID:21763485|PMID:23255580|PMID:23977131|PMID:25326637|PMID:25475713|PMID:25741868|PMID:25921210|PMID:27203561|PMID:28492532|PMID:29068479 12340574 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1314368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12340574 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:0111570 snowflake vitreoretinal degeneration ISO RGD:1314368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Snowflake vitreoretinal degeneration PMID:18179896|PMID:23255580|PMID:23977131|PMID:25741868|PMID:28492532|PMID:33546218 12340574 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:14791 Leber congenital amaurosis ISO RGD:1314368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25326637 12340574 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:630 genetic disease ISO RGD:1314368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12340574 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:8501 fundus dystrophy ISO RGD:1314368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 12340574 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12340574 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:9007737 Parkinson's Disease 11 ISO RGD:1314368 D RGD:7240710 20180130 OMIM 12340574 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:9007737 Parkinson's Disease 11 ISO RGD:1314368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease 11, autosomal dominant, susceptibility to PMID:18358451|PMID:18923002|PMID:19250854|PMID:19279319|PMID:19449032|PMID:24033266|PMID:25326637|PMID:25741868 12340617 HLX H2.0 like homeobox gene DOID:0050439 Usher syndrome ISO RGD:1323685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 12340617 HLX H2.0 like homeobox gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1323685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12340617 HLX H2.0 like homeobox gene DOID:1540 parathyroid carcinoma ISO RGD:1323685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12340617 HLX H2.0 like homeobox gene DOID:630 genetic disease ISO RGD:1323685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12340617 HLX H2.0 like homeobox gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12340640 MROH2A maestro heat like repeat family member 2A gene DOID:0060476 Perlman syndrome ISO RGD:2302189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12340640 MROH2A maestro heat like repeat family member 2A gene DOID:0110991 Joubert syndrome 22 ISO RGD:2302189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12340687 CALHM1 calcium homeostasis modulator 1 gene DOID:11054 urinary bladder cancer ISO RGD:1603161 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 12340687 CALHM1 calcium homeostasis modulator 1 gene DOID:630 genetic disease ISO RGD:1603161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12340742 LOC102156002 BRCA1-associated RING domain protein 1-like gene DOID:1612 breast cancer ISO RGD:733490 D RGD:9068941 20220825 MouseDO OMIM:114480 12340742 LOC102156002 BRCA1-associated RING domain protein 1-like gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733490 D RGD:9068941 20200609 RGD PMID:18443292|REF_RGD_ID:2293149 12340742 LOC102156002 BRCA1-associated RING domain protein 1-like gene DOID:9007346 Cachexia ISO RGD:621072 D RGD:9068941 20200609 RGD associated with Carcinoma, Hepatocellular;protein:increased expression:skeletal muscle PMID:16685375|REF_RGD_ID:2315732 12340764 EGFR epidermal growth factor receptor gene DOID:0050424 familial adenomatous polyposis ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25200834 12340764 EGFR epidermal growth factor receptor gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 12340764 EGFR epidermal growth factor receptor gene DOID:0050865 tongue squamous cell carcinoma treatment ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:19380367|REF_RGD_ID:8551769 12340764 EGFR epidermal growth factor receptor gene DOID:0050866 oral squamous cell carcinoma ISO RGD:69152 D RGD:9068941 20210423 RGD PMID:11673832|REF_RGD_ID:126781761 12340764 EGFR epidermal growth factor receptor gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 12340764 EGFR epidermal growth factor receptor gene DOID:0080599 Coronavirus infectious disease ISO RGD:10511 D RGD:9068941 20220825 MouseDO 12340764 EGFR epidermal growth factor receptor gene DOID:0080855 Parkinsonism ISO RGD:2543 D RGD:9068941 20200609 RGD protein:decreased expression:striatum PMID:15857400|REF_RGD_ID:2289955 12340764 EGFR epidermal growth factor receptor gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9486961 12340764 EGFR epidermal growth factor receptor gene DOID:10283 prostate cancer ISO RGD:69152 D RGD:9068941 20200609 RGD PMID:18467313|REF_RGD_ID:2293731 12340764 EGFR epidermal growth factor receptor gene DOID:10534 stomach cancer treatment ISO RGD:10511 D RGD:9068941 20200917 RGD associated with Helicobacter Infections PMID:28473630|REF_RGD_ID:38599214 12340764 EGFR epidermal growth factor receptor gene DOID:10652 Alzheimer's disease treatment ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:23019586|REF_RGD_ID:10059684 12340764 EGFR epidermal growth factor receptor gene DOID:10763 hypertension ISO RGD:2543 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:renal cortex PMID:15827348|REF_RGD_ID:1580953 12340764 EGFR epidermal growth factor receptor gene DOID:11054 urinary bladder cancer ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11723127|PMID:23523951 12340764 EGFR epidermal growth factor receptor gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:69152 D RGD:9068941 20200609 RGD PMID:16685269|REF_RGD_ID:2298502 12340764 EGFR epidermal growth factor receptor gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:18006009|REF_RGD_ID:2289943 12340764 EGFR epidermal growth factor receptor gene DOID:1107 esophageal carcinoma ISO RGD:69152 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus PMID:15623594|PMID:16205628|PMID:16707764|PMID:16863509|PMID:17653080|PMID:19147750|PMID:19536777|PMID:20522446|PMID:22753918|PMID:23102728|PMID:24033266|PMID:25157968|PMID:25521405|PMID:26051236|PMID:29141884 12340764 EGFR epidermal growth factor receptor gene DOID:11166 papillomavirus infectious disease disease_progression ISO RGD:69152 D RGD:9068941 20200911 RGD associated with squamous cell carcinoma PMID:31430224|REF_RGD_ID:38599177 12340764 EGFR epidermal growth factor receptor gene DOID:11934 head and neck cancer ISO RGD:69152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Head and neck neoplasm PMID:18089823|PMID:18355544|PMID:21172876|PMID:21274259|PMID:23380224|PMID:23578570|PMID:24934779|PMID:25057940|PMID:25157968|PMID:25176975|PMID:28492532|PMID:34012789 12340764 EGFR epidermal growth factor receptor gene DOID:127 leiomyoma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31468104 12340764 EGFR epidermal growth factor receptor gene DOID:12849 autistic disorder ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12340764 EGFR epidermal growth factor receptor gene DOID:12858 Huntington's disease ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:12890790|REF_RGD_ID:10047165 12340764 EGFR epidermal growth factor receptor gene DOID:12930 dilated cardiomyopathy ISO RGD:2543 D RGD:9068941 20200609 RGD PMID:22646904|REF_RGD_ID:7204501 12340764 EGFR epidermal growth factor receptor gene DOID:12930 dilated cardiomyopathy ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18599591 12340764 EGFR epidermal growth factor receptor gene DOID:1307 dementia ISO RGD:69152 D RGD:9068941 20200609 RGD PMID:2354367|REF_RGD_ID:10059682 12340764 EGFR epidermal growth factor receptor gene DOID:1324 lung cancer ISO RGD:69152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15728811|PMID:15737014|PMID:15897572|PMID:15901872|PMID:16115929|PMID:16187797|PMID:16203769|PMID:16204011|PMID:16204070|PMID:16258541|PMID:16857818|PMID:16865253|PMID:16912157|PMID:16956694|PMID:17020982|PMID:17047654|PMID:17085664|PMID:17106442|PMID:17192902|PMID:17285735|PMID:17317677|PMID:17332364|PMID:17387341|PMID:17429313|PMID:17473659|PMID:17510392|PMID:17726540|PMID:17877814|PMID:18093943|PMID:18227510|PMID:18303429|PMID:18408761|PMID:18509184|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19096302|PMID:19096324|PMID:19147750|PMID:19381876|PMID:19455431|PMID:19589612|PMID:19692680|PMID:19692684|PMID:19922469|PMID:20022809|PMID:20033049|PMID:20038723|PMID:20068085|PMID:20129249|PMID:20479403|PMID:20573926|PMID:21132006|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21531810|PMID:21670455|PMID:21783417|PMID:21900837|PMID:21921847|PMID:22215752|PMID:22285168|PMID:22370314|PMID:22452895|PMID:22452896|PMID:22588155|PMID:22753918|PMID:22760226|PMID:22848293|PMID:22992668|PMID:23102728|PMID:23242437|PMID:23358982|PMID:23540867|PMID:23816960|PMID:23816963|PMID:23948351|PMID:23982599|PMID:24033266|PMID:24065731|PMID:24202392|PMID:24439929|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24712396|PMID:24729716|PMID:24736066|PMID:24736073|PMID:24736080|PMID:24868098|PMID:24893891|PMID:25157968|PMID:25176975|PMID:25382819|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:25969368|PMID:26066407|PMID:26101090|PMID:26490356|PMID:26515464|PMID:26619011|PMID:26700910|PMID:26720284|PMID:26901136|PMID:27032107|PMID:27102076|PMID:27993330|PMID:28492532|PMID:28874603|PMID:28947568|PMID:29228562|PMID:29576263|PMID:29625052|PMID:29945477|PMID:30610926|PMID:31314158|PMID:31779674|PMID:33326033|PMID:33644199|PMID:33898318|PMID:34555730 12340764 EGFR epidermal growth factor receptor gene DOID:13976 peptic esophagitis ISO RGD:2543 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:esophagus, basal cell PMID:11966524|REF_RGD_ID:10395244 12340764 EGFR epidermal growth factor receptor gene DOID:14330 Parkinson's disease ISO RGD:69152 D RGD:9068941 20200609 RGD protein:decreased expression:forebrain PMID:15857400|REF_RGD_ID:2289955 12340764 EGFR epidermal growth factor receptor gene DOID:1612 breast cancer ISO RGD:69152 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:17465220|REF_RGD_ID:2289949 12340764 EGFR epidermal growth factor receptor gene DOID:1712 aortic valve stenosis ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:10700187|REF_RGD_ID:734918 12340764 EGFR epidermal growth factor receptor gene DOID:1749 squamous cell carcinoma ISO RGD:69152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:25157968|PMID:27993330 12340764 EGFR epidermal growth factor receptor gene DOID:1790 malignant mesothelioma ISO RGD:69152 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27032653 12340764 EGFR epidermal growth factor receptor gene DOID:1793 pancreatic cancer ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27720938 12340764 EGFR epidermal growth factor receptor gene DOID:1793 pancreatic cancer ISO RGD:69152 D RGD:9068941 20200609 RGD PMID:17452677|REF_RGD_ID:5131631 12340764 EGFR epidermal growth factor receptor gene DOID:1969 cerebral palsy ISO RGD:69152 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868|PMID:28492532|PMID:28726809|PMID:29899996|PMID:7630400 12340764 EGFR epidermal growth factor receptor gene DOID:1984 rectal benign neoplasm ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16839708 12340764 EGFR epidermal growth factor receptor gene DOID:2394 ovarian cancer ISO RGD:69152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25382819|PMID:25741868|PMID:28492532 12340764 EGFR epidermal growth factor receptor gene DOID:2615 papilloma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8603490 12340764 EGFR epidermal growth factor receptor gene DOID:2615 papilloma susceptibility ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:10943841|REF_RGD_ID:734919 12340764 EGFR epidermal growth factor receptor gene DOID:2671 transitional cell carcinoma ISO RGD:69152 D RGD:9068941 20200609 RGD PMID:3499520|REF_RGD_ID:10395259 12340764 EGFR epidermal growth factor receptor gene DOID:2671 transitional cell carcinoma ISO RGD:69152 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:16469638|REF_RGD_ID:2289980 12340764 EGFR epidermal growth factor receptor gene DOID:2723 dermatitis ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27206134 12340764 EGFR epidermal growth factor receptor gene DOID:2841 asthma ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:21224214|REF_RGD_ID:5131633 12340764 EGFR epidermal growth factor receptor gene DOID:2841 asthma ISO RGD:10511 D RGD:9068941 20200609 RGD protein:increased expression:lung epithelium (mouse) PMID:21072743|REF_RGD_ID:5131642 12340764 EGFR epidermal growth factor receptor gene DOID:2841 asthma ISO RGD:2543 D RGD:9068941 20200609 RGD protein:increased expression:lung epithelium (rat) PMID:19954006|REF_RGD_ID:5131870 12340764 EGFR epidermal growth factor receptor gene DOID:2841 asthma severity ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:bronchial epithelium (human) PMID:12580917|REF_RGD_ID:5131468 12340764 EGFR epidermal growth factor receptor gene DOID:2871 endometrial carcinoma ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:28492532 12340764 EGFR epidermal growth factor receptor gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:69152 D RGD:9068941 20210423 RGD PMID:22549618|REF_RGD_ID:126790474 12340764 EGFR epidermal growth factor receptor gene DOID:289 endometriosis ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12340764 EGFR epidermal growth factor receptor gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:10511 D RGD:9068941 20200911 RGD PMID:28404843|REF_RGD_ID:38599178 12340764 EGFR epidermal growth factor receptor gene DOID:2957 pulmonary tuberculosis disease_progression ISO RGD:69152 D RGD:9068941 20200911 RGD associated with lung adenocarcinoma; PMID:22173705|PMID:29621876|REF_RGD_ID:38599162|REF_RGD_ID:38599176 12340764 EGFR epidermal growth factor receptor gene DOID:299 adenocarcinoma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20934974|PMID:21541241|PMID:22042947|PMID:2523869|PMID:27720938 12340764 EGFR epidermal growth factor receptor gene DOID:3021 acute kidney failure ISO RGD:2543 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:11340354|REF_RGD_ID:10395241 12340764 EGFR epidermal growth factor receptor gene DOID:3021 acute kidney failure ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14638913 12340764 EGFR epidermal growth factor receptor gene DOID:305 carcinoma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15302576 12340764 EGFR epidermal growth factor receptor gene DOID:3068 glioblastoma ISO RGD:69152 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma multiforme, somatic PMID:15118073|PMID:15118125|PMID:15329413|PMID:15710947|PMID:15738541|PMID:16011858|PMID:16115929|PMID:17177598|PMID:18199554|PMID:18458038|PMID:19536777|PMID:19671738|PMID:19922469|PMID:20479403|PMID:21531810|PMID:21841502|PMID:22753918|PMID:2302402|PMID:23102728|PMID:23242437|PMID:23945392|PMID:24033266|PMID:25157968|PMID:26619011|PMID:31396478 12340764 EGFR epidermal growth factor receptor gene DOID:3070 high grade glioma ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:17177598|PMID:26619011 12340764 EGFR epidermal growth factor receptor gene DOID:3070 high grade glioma treatment ISO RGD:2543 D RGD:9068941 20200917 RGD PMID:10616092|REF_RGD_ID:38599219 12340764 EGFR epidermal growth factor receptor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:2543 D RGD:9068941 20200609 RGD PMID:22732689|REF_RGD_ID:7204496 12340764 EGFR epidermal growth factor receptor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:bronchial epithelium (human) PMID:16393673|REF_RGD_ID:5131627 12340764 EGFR epidermal growth factor receptor gene DOID:3347 osteosarcoma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22235915 12340764 EGFR epidermal growth factor receptor gene DOID:3459 breast carcinoma ISO RGD:69152 D RGD:9068941 20200609 RGD DNA:amplification:cds, 3' utr (human) PMID:18413808|REF_RGD_ID:2293732 12340764 EGFR epidermal growth factor receptor gene DOID:3459 breast carcinoma disease_progression ISO RGD:69152 D RGD:9068941 20200609 RGD PMID:18522728|REF_RGD_ID:2293728 12340764 EGFR epidermal growth factor receptor gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal squamous cell carcinoma PMID:23485129|PMID:25157968 12340764 EGFR epidermal growth factor receptor gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:esophagus (human) PMID:10385363|REF_RGD_ID:5131486 12340764 EGFR epidermal growth factor receptor gene DOID:3770 pulmonary fibrosis ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:21177177|PMID:8879184|REF_RGD_ID:5131634|REF_RGD_ID:5131638 12340764 EGFR epidermal growth factor receptor gene DOID:3770 pulmonary fibrosis ISO RGD:2543 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:7524566|REF_RGD_ID:5131873 12340764 EGFR epidermal growth factor receptor gene DOID:3905 lung carcinoma ISO RGD:69152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15623594|PMID:15728811|PMID:15737014|PMID:15788655|PMID:15897572|PMID:15901872|PMID:16043828|PMID:16115929|PMID:16203769|PMID:16204011|PMID:16204070|PMID:16258541|PMID:16533793|PMID:16857818|PMID:16863509|PMID:16865253|PMID:16912157|PMID:16956694|PMID:17020982|PMID:17047654|PMID:17085664|PMID:17106442|PMID:17192902|PMID:17236554|PMID:17285735|PMID:17317677|PMID:17332364|PMID:17368623|PMID:17387341|PMID:17429313|PMID:17473659|PMID:17510392|PMID:17726540|PMID:17877814|PMID:17904685|PMID:17941001|PMID:17973572|PMID:18000506|PMID:18093943|PMID:18176089|PMID:18227510|PMID:18261621|PMID:18303429|PMID:18372921|PMID:18408761|PMID:18509184|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19096301|PMID:19096302|PMID:19096324|PMID:19147750|PMID:19381876|PMID:19455431|PMID:19536777|PMID:19589612|PMID:19692680|PMID:19692684|PMID:19922469|PMID:20022809|PMID:20033049|PMID:20038723|PMID:20068085|PMID:20129249|PMID:20479403|PMID:20573926|PMID:21057810|PMID:21132006|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21531810|PMID:21670455|PMID:21783417|PMID:21841502|PMID:21899495|PMID:21900837|PMID:21921847|PMID:22215752|PMID:22285168|PMID:22370314|PMID:22452895|PMID:22452896|PMID:22483783|PMID:22588155|PMID:22753918|PMID:22760226|PMID:22848293|PMID:22992668|PMID:23026641|PMID:23102728|PMID:23371856|PMID:23468066|PMID:23540867|PMID:23816960|PMID:23816963|PMID:23912954|PMID:23948351|PMID:23982599|PMID:24033266|PMID:24065731|PMID:24202392|PMID:24439929|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24729716|PMID:24736066|PMID:24736073|PMID:24736080|PMID:24868098|PMID:24893891|PMID:25157968|PMID:25176975|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:26490356|PMID:26515464|PMID:26619011|PMID:26700910|PMID:26720284|PMID:27032107|PMID:27102076|PMID:27993330|PMID:28492532|PMID:28947568|PMID:30610926|PMID:31314158|PMID:31779674|PMID:32913967|PMID:33326033|PMID:33707471 12340764 EGFR epidermal growth factor receptor gene DOID:3907 lung squamous cell carcinoma ISO RGD:69152 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:1111234672|PMID:15118073|PMID:15118125|PMID:15329413|PMID:15623594|PMID:15897572|PMID:16043828|PMID:16205628|PMID:16707764|PMID:16863509|PMID:16931592|PMID:17368623|PMID:17653080|PMID:17973572|PMID:18000506|PMID:18372921|PMID:18509184|PMID:19147750|PMID:19536777|PMID:19922469|PMID:20522446|PMID:20942962|PMID:22753918|PMID:23102728|PMID:23945392|PMID:24033266|PMID:25157968|PMID:25382819|PMID:25521405|PMID:25741868|PMID:26051236|PMID:26619011|PMID:27294619|PMID:28492532|PMID:29141884|PMID:30098700|PMID:30610926|PMID:32171629|PMID:32978515|PMID:32978518 12340764 EGFR epidermal growth factor receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:69152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer | ClinVar Annotator: match by term: Non-small cell lung carcinoma | ClinVar Annotator: match by term: Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15604253|PMID:15623594|PMID:15625347|PMID:15681531|PMID:15710947|PMID:15728811|PMID:15737014|PMID:15738541|PMID:15741570|PMID:15788655|PMID:15897572|PMID:15901872|PMID:15998907|PMID:16011858|PMID:16105816|PMID:16115929|PMID:16187797|PMID:16199108|PMID:16203769|PMID:16204011|PMID:16204070|PMID:16205628|PMID:16258541|PMID:16467085|PMID:16533793|PMID:16707764|PMID:16730855|PMID:16863509|PMID:16865253|PMID:16912157|PMID:16956694|PMID:17020982|PMID:17047654|PMID:17085664|PMID:17106442|PMID:17192902|PMID:17285735|PMID:17317677|PMID:17332364|PMID:17387341|PMID:17429313|PMID:17473653|PMID:17473659|PMID:17510392|PMID:17545553|PMID:17653080|PMID:17726540|PMID:17877814|PMID:17904685|PMID:18089823|PMID:18093943|PMID:18176089|PMID:18199554|PMID:18227510|PMID:18303429|PMID:18325048|PMID:18334834|PMID:18372921|PMID:18408761|PMID:18450321|PMID:18458038|PMID:18509184|PMID:18596266|PMID:18628075|PMID:18948947|PMID:18981003|PMID:18992959|PMID:19096302|PMID:19096324|PMID:19147750|PMID:19381876|PMID:19455431|PMID:19536777|PMID:19589612|PMID:19671738|PMID:19692680|PMID:19692684|PMID:19922469|PMID:20022809|PMID:20033049|PMID:20038723|PMID:20068085|PMID:20129249|PMID:20479403|PMID:20522446|PMID:20559149|PMID:20573926|PMID:20808254|PMID:21057810|PMID:21132006|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21317742|PMID:21430269|PMID:21527506|PMID:21531810|PMID:21572125|PMID:21592614|PMID:21670455|PMID:21718596|PMID:21783417|PMID:21841502|PMID:21899495|PMID:21900837|PMID:21921847|PMID:22019513|PMID:22215752|PMID:22285168|PMID:22370314|PMID:22452895|PMID:22452896|PMID:22588155|PMID:22622260|PMID:22753918|PMID:22760226|PMID:22809298|PMID:22992668|PMID:2302402|PMID:23102728|PMID:23242437|PMID:23358982|PMID:23468066|PMID:23485129|PMID:23540867|PMID:23800712|PMID:23816960|PMID:23816963|PMID:23945392|PMID:23948351|PMID:23982599|PMID:24033266|PMID:24039832|PMID:24065731|PMID:24202392|PMID:24439929|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24712396|PMID:24729716|PMID:24736066|PMID:24736073|PMID:24736080|PMID:24868098|PMID:24893891|PMID:24894453|PMID:24934779|PMID:25061320|PMID:25157968|PMID:25382819|PMID:25521405|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:25939061|PMID:25948633|PMID:25969368|PMID:26051236|PMID:26101090|PMID:26490356|PMID:26515464|PMID:26619011|PMID:26700910|PMID:26720284|PMID:27032107|PMID:27102076|PMID:27294619|PMID:27993330|PMID:28492532|PMID:28874603|PMID:28947568|PMID:29100434|PMID:29141884|PMID:29576263|PMID:29945477|PMID:30610926|PMID:31396478|PMID:31779674|PMID:33644199|PMID:33898318|PMID:34555730 12340764 EGFR epidermal growth factor receptor gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:69152 D RGD:9068941 20220901 RGD human cells in mouse model PMID:31205511|PMID:32276600|REF_RGD_ID:151357000|REF_RGD_ID:153344584 12340764 EGFR epidermal growth factor receptor gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:69152 D RGD:9068941 20210423 RGD PMID:11789762|REF_RGD_ID:126790479 12340764 EGFR epidermal growth factor receptor gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:69152 D RGD:9068941 20200609 RGD protein:decreased expression:tumor (human) PMID:21124077|REF_RGD_ID:5131640 12340764 EGFR epidermal growth factor receptor gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:69152 D RGD:9068941 20200609 RGD PMID:27040853|REF_RGD_ID:13464349 12340764 EGFR epidermal growth factor receptor gene DOID:3910 lung adenocarcinoma ISO RGD:69152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Adenocarcinoma of lung, somatic | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:1111234672|PMID:15118073|PMID:15118125|PMID:15329413|PMID:15710947|PMID:15737014|PMID:15738541|PMID:15897572|PMID:15901872|PMID:16011858|PMID:16115929|PMID:16203769|PMID:16204011|PMID:16204070|PMID:16865253|PMID:16956694|PMID:17047654|PMID:17106442|PMID:17177598|PMID:17192902|PMID:17285735|PMID:17317677|PMID:17387341|PMID:17429313|PMID:17473659|PMID:17877814|PMID:18199554|PMID:18303429|PMID:18408761|PMID:18458038|PMID:18509184|PMID:19096302|PMID:19147750|PMID:19455431|PMID:19536777|PMID:19671738|PMID:19692680|PMID:19692684|PMID:19922469|PMID:20022809|PMID:20038723|PMID:20479403|PMID:20573926|PMID:20942962|PMID:21132006|PMID:21531810|PMID:21670455|PMID:21783417|PMID:21841502|PMID:21900837|PMID:22215752|PMID:22285168|PMID:22370314|PMID:22452895|PMID:22622260|PMID:22753918|PMID:22760226|PMID:22992668|PMID:2302402|PMID:23102728|PMID:23242437|PMID:23816960|PMID:23945392|PMID:23948351|PMID:23982599|PMID:24033266|PMID:24212795|PMID:24439929|PMID:24736073|PMID:24868098|PMID:24893891|PMID:25157968|PMID:25382819|PMID:25741868|PMID:26066407|PMID:26490356|PMID:26515464|PMID:26619011|PMID:27032107|PMID:27102076|PMID:27294619|PMID:27993330|PMID:28492532|PMID:29228562|PMID:30098700|PMID:30610926|PMID:31396478|PMID:31779674|PMID:32171629|PMID:32978515|PMID:32978518 12340764 EGFR epidermal growth factor receptor gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:69152 D RGD:9068941 20210423 RGD PMID:26824984|REF_RGD_ID:126790475 12340764 EGFR epidermal growth factor receptor gene DOID:3948 adrenocortical carcinoma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23585556 12340764 EGFR epidermal growth factor receptor gene DOID:4450 renal cell carcinoma ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:tumor PMID:18467719|REF_RGD_ID:2293730 12340764 EGFR epidermal growth factor receptor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12340764 EGFR epidermal growth factor receptor gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:10511 D RGD:9068941 20200609 RGD DNA:mutations:exons: PMID:26059825|REF_RGD_ID:11075076 12340764 EGFR epidermal growth factor receptor gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:2543 D RGD:9068941 20200609 RGD DNA:mutations:exons: PMID:26059825|REF_RGD_ID:11075076 12340764 EGFR epidermal growth factor receptor gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:69152 D RGD:9068941 20200609 RGD DNA:snp:cds:p.T790M (human) PMID:15737014|REF_RGD_ID:5131465 12340764 EGFR epidermal growth factor receptor gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:tumor (human) PMID:21419590|REF_RGD_ID:5131630 12340764 EGFR epidermal growth factor receptor gene DOID:4947 cholangiocarcinoma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17341899 12340764 EGFR epidermal growth factor receptor gene DOID:5082 liver cirrhosis severity ISO RGD:69152 D RGD:9068941 20200609 RGD associated with non-alcoholic fatty liver disease;protein:increased expression:plasma PMID:28650518|REF_RGD_ID:14401722 12340764 EGFR epidermal growth factor receptor gene DOID:5409 lung small cell carcinoma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20837450 12340764 EGFR epidermal growth factor receptor gene DOID:5419 schizophrenia ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:prefrontal cortex (human) PMID:12192610|REF_RGD_ID:5131451 12340764 EGFR epidermal growth factor receptor gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:69152 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:15118073|PMID:15118125|PMID:15788655|PMID:17177598|PMID:20415598|PMID:21531084|PMID:23242437|PMID:23358982|PMID:24712396|PMID:25157968|PMID:25382819|PMID:25969368|PMID:26101090|PMID:26619011|PMID:28492532|PMID:28874603|PMID:29945477|PMID:31775759|PMID:34555730 12340764 EGFR epidermal growth factor receptor gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:69152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:15118073|PMID:15118125|PMID:15788655|PMID:17177598|PMID:20415598|PMID:21531084|PMID:23242437|PMID:23358982|PMID:24712396|PMID:25157968|PMID:25382819|PMID:25741868|PMID:25969368|PMID:26101090|PMID:26619011|PMID:28492532|PMID:28874603|PMID:29576263|PMID:29945477|PMID:31775759|PMID:33644199|PMID:33898318|PMID:34555730 12340764 EGFR epidermal growth factor receptor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 12340764 EGFR epidermal growth factor receptor gene DOID:571 median neuropathy ISO RGD:2543 D RGD:9068941 20210423 RGD PMID:18845940|REF_RGD_ID:126790486 12340764 EGFR epidermal growth factor receptor gene DOID:62 aortic valve disease ISO RGD:10511 D RGD:9068941 20220825 MouseDO 12340764 EGFR epidermal growth factor receptor gene DOID:630 genetic disease ISO RGD:69152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12340764 EGFR epidermal growth factor receptor gene DOID:6432 pulmonary hypertension ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:12896876|REF_RGD_ID:5131639 12340764 EGFR epidermal growth factor receptor gene DOID:6432 pulmonary hypertension ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:lung, arteriole (human) PMID:21492463|REF_RGD_ID:5131626 12340764 EGFR epidermal growth factor receptor gene DOID:684 hepatocellular carcinoma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9029167 12340764 EGFR epidermal growth factor receptor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:69152 D RGD:9068941 20210423 RGD PMID:11355950|REF_RGD_ID:126781769 12340764 EGFR epidermal growth factor receptor gene DOID:850 lung disease ISO RGD:2543 D RGD:9068941 20200609 RGD Acute Lung Injury; mRNA:increased expression:lung (rat) PMID:9700116|REF_RGD_ID:1578630 12340764 EGFR epidermal growth factor receptor gene DOID:8947 diabetic retinopathy ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:7947554|REF_RGD_ID:1580957 12340764 EGFR epidermal growth factor receptor gene DOID:8947 diabetic retinopathy treatment ISO RGD:10511 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23831329|REF_RGD_ID:10059675 12340764 EGFR epidermal growth factor receptor gene DOID:9000011 Gallbladder Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24997986 12340764 EGFR epidermal growth factor receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2543 D RGD:9068941 20200609 RGD PMID:20869112|REF_RGD_ID:5131525 12340764 EGFR epidermal growth factor receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2543 D RGD:9068941 20200609 RGD protein:increased phosphorylation:spinal cord, astrocyte (rat) PMID:21402118|REF_RGD_ID:5131454 12340764 EGFR epidermal growth factor receptor gene DOID:9000081 Lymphatic Metastasis treatment ISO RGD:10511 D RGD:9068941 20200609 RGD associated with Squamous Cell Carcinoma of the Tongue PMID:19380367|REF_RGD_ID:8551769 12340764 EGFR epidermal growth factor receptor gene DOID:9000117 Esophageal Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21298351|PMID:21468131|PMID:22042947 12340764 EGFR epidermal growth factor receptor gene DOID:9000184 Ventricular Fibrillation treatment ISO RGD:2543 D RGD:9068941 20200917 RGD PMID:22028338|REF_RGD_ID:38676260 12340764 EGFR epidermal growth factor receptor gene DOID:9000217 Stomach Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15723263|PMID:21173787|PMID:22042947 12340764 EGFR epidermal growth factor receptor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8603490 12340764 EGFR epidermal growth factor receptor gene DOID:9000918 Disease Progression ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20859196 12340764 EGFR epidermal growth factor receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17369752|PMID:17575224|PMID:23867902 12340764 EGFR epidermal growth factor receptor gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:10511 D RGD:9068941 20200917 RGD PMID:30502657|REF_RGD_ID:38599215 12340764 EGFR epidermal growth factor receptor gene DOID:9001310 Tobacco Use Disorder ISO RGD:2543 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (rat) PMID:21475988|REF_RGD_ID:5131452 12340764 EGFR epidermal growth factor receptor gene DOID:9001341 Chloracne ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21237254 12340764 EGFR epidermal growth factor receptor gene DOID:9002221 Hyperplasia ISO RGD:2543 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery (rat) PMID:21357274|REF_RGD_ID:5131466 12340764 EGFR epidermal growth factor receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate neoplasm PMID:23485129|PMID:25157968 12340764 EGFR epidermal growth factor receptor gene DOID:9002457 Experimental Arthritis ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7589090 12340764 EGFR epidermal growth factor receptor gene DOID:9002762 Ovarian Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16211241|PMID:21909139 12340764 EGFR epidermal growth factor receptor gene DOID:9002762 Ovarian Neoplasms ISO RGD:69152 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:18575766|REF_RGD_ID:2298499 12340764 EGFR epidermal growth factor receptor gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:mammary tumor cell, nucleus (human) PMID:19058255|REF_RGD_ID:5131867 12340764 EGFR epidermal growth factor receptor gene DOID:9002850 Immediate Hypersensitivity ISO RGD:69152 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:20357714|REF_RGD_ID:5131868 12340764 EGFR epidermal growth factor receptor gene DOID:9002928 Colonic Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14569062|PMID:25200834 12340764 EGFR epidermal growth factor receptor gene DOID:9002936 Bile Duct Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17341899 12340764 EGFR epidermal growth factor receptor gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18703609|PMID:20859196|PMID:21329967 12340764 EGFR epidermal growth factor receptor gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17465227|REF_RGD_ID:2289947 12340764 EGFR epidermal growth factor receptor gene DOID:9003566 Mesothelioma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21787763 12340764 EGFR epidermal growth factor receptor gene DOID:9003613 Laryngeal Neoplasms severity ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:tumor (human) PMID:8883413|REF_RGD_ID:5131485 12340764 EGFR epidermal growth factor receptor gene DOID:9003936 Cardiomegaly ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:15652507|REF_RGD_ID:1580954 12340764 EGFR epidermal growth factor receptor gene DOID:9004240 Phyllodes Tumor disease_progression ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:tumor PMID:11206334|REF_RGD_ID:2289951 12340764 EGFR epidermal growth factor receptor gene DOID:9004265 Endometrioid Carcinomas ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation PMID:22885469 12340764 EGFR epidermal growth factor receptor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18844224|PMID:23867902 12340764 EGFR epidermal growth factor receptor gene DOID:9004610 Acute Lung Injury ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:20935109|REF_RGD_ID:5131862 12340764 EGFR epidermal growth factor receptor gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:2543 D RGD:9068941 20200609 RGD PMID:12624003|REF_RGD_ID:1580955 12340764 EGFR epidermal growth factor receptor gene DOID:9004771 Vascular Remodeling treatment ISO RGD:2543 D RGD:9068941 20200917 RGD PMID:31264901|REF_RGD_ID:38599217 12340764 EGFR epidermal growth factor receptor gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21786012|PMID:22277784 12340764 EGFR epidermal growth factor receptor gene DOID:9005172 Lung Neoplasms ISO RGD:69152 D RGD:7240710 20230505 OMIM 12340764 EGFR epidermal growth factor receptor gene DOID:9005172 Lung Neoplasms ISO RGD:69152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: EGFR-related lung cancer PMID:1111234672|PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15604253|PMID:15623594|PMID:15625347|PMID:15710947|PMID:15728811|PMID:15737014|PMID:15741570|PMID:15746034|PMID:15901872|PMID:15998907|PMID:16011858|PMID:16105816|PMID:16115929|PMID:16166444|PMID:16187797|PMID:16199108|PMID:16199547|PMID:16204070|PMID:16258541|PMID:16467080|PMID:16467085|PMID:16533793|PMID:16857818|PMID:16912157|PMID:17020982|PMID:17085664|PMID:17177598|PMID:17192902|PMID:17285735|PMID:17332364|PMID:17473653|PMID:17510392|PMID:17576681|PMID:17726540|PMID:17877814|PMID:17904685|PMID:18093943|PMID:18176089|PMID:18193092|PMID:18227510|PMID:18325048|PMID:18334834|PMID:18355544|PMID:18379371|PMID:18495026|PMID:18497962|PMID:18528899|PMID:18596266|PMID:18948947|PMID:18981003|PMID:18992959|PMID:19059670|PMID:19096324|PMID:19147750|PMID:19381876|PMID:19536777|PMID:19589612|PMID:19671738|PMID:19844187|PMID:19922469|PMID:20033049|PMID:20068085|PMID:20129249|PMID:20479403|PMID:20559149|PMID:20808254|PMID:20823418|PMID:20942962|PMID:21057810|PMID:21172876|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21274259|PMID:21317742|PMID:21430269|PMID:21527506|PMID:21531810|PMID:21592614|PMID:21841502|PMID:21899495|PMID:21921847|PMID:22019513|PMID:22215752|PMID:22270724|PMID:22452896|PMID:22588155|PMID:22753918|PMID:22760226|PMID:22809298|PMID:22848293|PMID:22992668|PMID:23102728|PMID:23242437|PMID:23358982|PMID:23380224|PMID:23468066|PMID:23468851|PMID:23540867|PMID:23800712|PMID:23816963|PMID:23912954|PMID:24033266|PMID:24039832|PMID:24065731|PMID:24202392|PMID:24212795|PMID:24326041|PMID:24406864|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24691054|PMID:24712396|PMID:24728327|PMID:24729716|PMID:24736066|PMID:24736080|PMID:24743239|PMID:24893891|PMID:24894453|PMID:25057940|PMID:25061320|PMID:25111073|PMID:25157968|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25498243|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:25939061|PMID:25948633|PMID:25969368|PMID:26066407|PMID:26101090|PMID:26280531|PMID:26436111|PMID:26467025|PMID:26515464|PMID:26700910|PMID:26720284|PMID:26870997|PMID:26901136|PMID:26987750|PMID:27294619|PMID:27993330|PMID:28135048|PMID:28229982|PMID:28286242|PMID:28492532|PMID:28726809|PMID:28835699|PMID:28838405|PMID:28874603|PMID:28947568|PMID:28979142|PMID:29100434|PMID:29228562|PMID:29290256|PMID:29576263|PMID:29587953|PMID:29625052|PMID:29899996|PMID:29945477|PMID:30098700|PMID:30325992|PMID:30405134|PMID:30588029|PMID:30610926|PMID:30796031|PMID:30981987|PMID:31290142|PMID:31314158|PMID:32171629|PMID:32512509|PMID:32602142|PMID:32913967|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33644199|PMID:33707471|PMID:33898318|PMID:34012789|PMID:34555730|PMID:7630400|PMID:9536098 12340764 EGFR epidermal growth factor receptor gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21786012 12340764 EGFR epidermal growth factor receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2523869|PMID:8603490 12340764 EGFR epidermal growth factor receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69152 D RGD:9068941 20200609 RGD PMID:17203220|REF_RGD_ID:2289979 12340764 EGFR epidermal growth factor receptor gene DOID:9005372 Inflammation ISO RGD:2543 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries PMID:22824323|REF_RGD_ID:7204495 12340764 EGFR epidermal growth factor receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2543 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:cornea PMID:21330660|REF_RGD_ID:5131482 12340764 EGFR epidermal growth factor receptor gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:2543 D RGD:9068941 20200917 RGD PMID:31264901|REF_RGD_ID:38599217 12340764 EGFR epidermal growth factor receptor gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced treatment ISO RGD:2543 D RGD:9068941 20200917 RGD PMID:31264901|REF_RGD_ID:38599217 12340764 EGFR epidermal growth factor receptor gene DOID:9006169 Head and Neck Neoplasms ISO RGD:69152 D RGD:9068941 20220901 CTD CTD Direct Evidence: marker/mechanism PMID:12942316|PMID:15342401|PMID:23917044 12340764 EGFR epidermal growth factor receptor gene DOID:9006169 Head and Neck Neoplasms ISO RGD:69152 D RGD:9068941 20220901 RGD PMID:16467544|REF_RGD_ID:5131641 12340764 EGFR epidermal growth factor receptor gene DOID:9006586 Neonatal Inflammatory Skin and Bowel Disease 2 ISO RGD:69152 D RGD:7240710 20230505 OMIM 12340764 EGFR epidermal growth factor receptor gene DOID:9006586 Neonatal Inflammatory Skin and Bowel Disease 2 ISO RGD:69152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inflammatory skin and bowel disease, neonatal, 2 PMID:24033266|PMID:24691054|PMID:24728327|PMID:25741868|PMID:26436111|PMID:28492532|PMID:32602142 12340764 EGFR epidermal growth factor receptor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69152 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:1111234672|PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15623594|PMID:15728811|PMID:15737014|PMID:15901872|PMID:16199547|PMID:16258541|PMID:16467080|PMID:16857818|PMID:16912157|PMID:17020982|PMID:17085664|PMID:17285735|PMID:17332364|PMID:17510392|PMID:17576681|PMID:17726540|PMID:17877814|PMID:18093943|PMID:18227510|PMID:18495026|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19096324|PMID:19381876|PMID:19589612|PMID:20033049|PMID:20068085|PMID:20129249|PMID:20942962|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21531810|PMID:21921847|PMID:22215752|PMID:22452896|PMID:22588155|PMID:22848293|PMID:22992668|PMID:23102728|PMID:23540867|PMID:23816963|PMID:24033266|PMID:24065731|PMID:24202392|PMID:24326041|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24728327|PMID:24729716|PMID:24736066|PMID:24736080|PMID:24893891|PMID:25111073|PMID:25157968|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:26515464|PMID:26700910|PMID:26720284|PMID:27294619|PMID:28166811|PMID:28492532|PMID:28726809|PMID:28835699|PMID:28947568|PMID:29290256|PMID:29625052|PMID:29899996|PMID:30098700|PMID:30325992|PMID:30610926|PMID:30981987|PMID:31314158|PMID:32171629|PMID:32512509|PMID:32913967|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33707471|PMID:7630400|PMID:9536098 12340764 EGFR epidermal growth factor receptor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:1111234672|PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15623594|PMID:15728811|PMID:15737014|PMID:15901872|PMID:16199547|PMID:16258541|PMID:16467080|PMID:16857818|PMID:16912157|PMID:17020982|PMID:17085664|PMID:17285735|PMID:17332364|PMID:17510392|PMID:17576681|PMID:17726540|PMID:17877814|PMID:18093943|PMID:18227510|PMID:18495026|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19096324|PMID:19381876|PMID:19589612|PMID:20033049|PMID:20068085|PMID:20129249|PMID:20942962|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21531810|PMID:21921847|PMID:22215752|PMID:22452896|PMID:22588155|PMID:22848293|PMID:22992668|PMID:23102728|PMID:23242437|PMID:23358982|PMID:23540867|PMID:23816963|PMID:24033266|PMID:24065731|PMID:24202392|PMID:24326041|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24712396|PMID:24728327|PMID:24729716|PMID:24736066|PMID:24736080|PMID:24893891|PMID:25111073|PMID:25157968|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:25969368|PMID:26101090|PMID:26467025|PMID:26515464|PMID:26700910|PMID:26720284|PMID:26870997|PMID:27294619|PMID:28492532|PMID:28726809|PMID:28835699|PMID:28874603|PMID:28947568|PMID:29290256|PMID:29625052|PMID:29899996|PMID:29945477|PMID:30098700|PMID:30325992|PMID:30610926|PMID:30981987|PMID:31314158|PMID:32171629|PMID:32512509|PMID:32913967|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33644199|PMID:33707471|PMID:34555730|PMID:7630400|PMID:9536098 12340764 EGFR epidermal growth factor receptor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:1111234672|PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15623594|PMID:15728811|PMID:15737014|PMID:15901872|PMID:16199547|PMID:16258541|PMID:16467080|PMID:16857818|PMID:16912157|PMID:17020982|PMID:17085664|PMID:17285735|PMID:17332364|PMID:17510392|PMID:17576681|PMID:17726540|PMID:17877814|PMID:18093943|PMID:18227510|PMID:18495026|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19096324|PMID:19381876|PMID:19589612|PMID:20033049|PMID:20068085|PMID:20129249|PMID:20942962|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21531810|PMID:21921847|PMID:22215752|PMID:22452896|PMID:22588155|PMID:22848293|PMID:22992668|PMID:23102728|PMID:23242437|PMID:23358982|PMID:23540867|PMID:23816963|PMID:24033266|PMID:24065731|PMID:24202392|PMID:24326041|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24712396|PMID:24728327|PMID:24729716|PMID:24736066|PMID:24736080|PMID:24893891|PMID:25111073|PMID:25157968|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:25969368|PMID:26101090|PMID:26467025|PMID:26515464|PMID:26700910|PMID:26720284|PMID:26870997|PMID:27294619|PMID:28492532|PMID:28726809|PMID:28835699|PMID:28874603|PMID:28947568|PMID:29290256|PMID:29576263|PMID:29625052|PMID:29899996|PMID:29945477|PMID:30098700|PMID:30325992|PMID:30610926|PMID:30981987|PMID:31314158|PMID:32171629|PMID:32512509|PMID:32913967|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33644199|PMID:33707471|PMID:33898318|PMID:34555730|PMID:7630400|PMID:9536098 12340764 EGFR epidermal growth factor receptor gene DOID:9007502 Brain Neoplasms ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of brain PMID:17177598|PMID:26619011 12340764 EGFR epidermal growth factor receptor gene DOID:9007692 Insulin Resistance ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22238402 12340764 EGFR epidermal growth factor receptor gene DOID:9008114 Helicobacter Infections treatment ISO RGD:10511 D RGD:9068941 20200917 RGD PMID:28473630|REF_RGD_ID:38599214 12340764 EGFR epidermal growth factor receptor gene DOID:9008114 Helicobacter Infections treatment ISO RGD:69152 D RGD:9068941 20200911 RGD associated with gastritis; PMID:25051417|REF_RGD_ID:38599160 12340764 EGFR epidermal growth factor receptor gene DOID:9008443 Colorectal Neoplasms ISO RGD:69152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:15118073|PMID:15118125|PMID:15329413|PMID:15604253|PMID:15625347|PMID:15710947|PMID:15741570|PMID:15998907|PMID:16011858|PMID:16105816|PMID:16115929|PMID:16166444|PMID:16187797|PMID:16199108|PMID:16204070|PMID:16467085|PMID:16533793|PMID:17192902|PMID:17285735|PMID:17473653|PMID:17904685|PMID:18176089|PMID:18325048|PMID:18334834|PMID:18948947|PMID:19536777|PMID:19844187|PMID:19922469|PMID:20479403|PMID:20559149|PMID:20808254|PMID:21057810|PMID:21317742|PMID:21527506|PMID:21592614|PMID:21841502|PMID:21899495|PMID:22019513|PMID:22270724|PMID:22753918|PMID:22809298|PMID:23102728|PMID:23468066|PMID:24033266|PMID:24039832|PMID:24894453|PMID:25061320|PMID:25157968|PMID:28286242|PMID:28492532|PMID:28838405|PMID:29100434|PMID:30405134|PMID:30588029|PMID:30610926|PMID:30796031 12340764 EGFR epidermal growth factor receptor gene DOID:9008731 Craniofacial Abnormalities ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10319864 12340764 EGFR epidermal growth factor receptor gene DOID:9008939 Breast Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16950593|PMID:18768436|PMID:19075277|PMID:20135347|PMID:20941507|PMID:23867902 12340764 EGFR epidermal growth factor receptor gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:10511 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, tumor (mouse) PMID:21107114|REF_RGD_ID:5037225 12340764 EGFR epidermal growth factor receptor gene DOID:9256 colorectal cancer ISO RGD:69152 D RGD:9068941 20200609 RGD PMID:15269313|REF_RGD_ID:5131632 12340764 EGFR epidermal growth factor receptor gene DOID:9256 colorectal cancer ISO RGD:69152 D RGD:9068941 20200609 RGD human tumor in mouse model PMID:21398618|REF_RGD_ID:5131455 12340764 EGFR epidermal growth factor receptor gene DOID:9256 colorectal cancer resistance ISO RGD:69152 D RGD:9068941 20200609 RGD mRNA, protein:increased expression (human) PMID:20010090|REF_RGD_ID:5131871 12340764 EGFR epidermal growth factor receptor gene DOID:9351 diabetes mellitus ISO RGD:69152 D RGD:9068941 20220527 RGD associated with lung squamous cell carcinoma; protein:increased expression:lung (human) PMID:27411924|REF_RGD_ID:152975631 12340764 EGFR epidermal growth factor receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22238402 12340764 EGFR epidermal growth factor receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:2543 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:liver (rat) PMID:2833110|REF_RGD_ID:5131531 12340764 EGFR epidermal growth factor receptor gene DOID:9970 obesity ISO RGD:10511 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:liver (mouse) PMID:3624263|REF_RGD_ID:5131534 12340796 FADS3 fatty acid desaturase 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1352711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12340796 FADS3 fatty acid desaturase 3 gene DOID:1059 intellectual disability ISO RGD:1352711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12340796 FADS3 fatty acid desaturase 3 gene DOID:630 genetic disease ISO RGD:1352711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12340812 TASOR transcription activation suppressor gene DOID:3070 high grade glioma ISO RGD:1604038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12340812 TASOR transcription activation suppressor gene DOID:630 genetic disease ISO RGD:1604038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12340845 CDK2AP1 cyclin dependent kinase 2 associated protein 1 gene DOID:630 genetic disease ISO RGD:1318567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12340854 CCDC186 coiled-coil domain containing 186 gene DOID:630 genetic disease ISO RGD:1316183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12340854 CCDC186 coiled-coil domain containing 186 gene DOID:6420 pulmonary valve stenosis ISO RGD:1316183 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:33259146 12340883 SURF1 SURF1 cytochrome c oxidase assembly factor gene DOID:0050753 cerebellar ataxia ISO RGD:732036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:17576681|PMID:22488715|PMID:23829769|PMID:25741868|PMID:28492532|PMID:32445240|PMID:9536098 12340883 SURF1 SURF1 cytochrome c oxidase assembly factor gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:732036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12340883 SURF1 SURF1 cytochrome c oxidase assembly factor gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:732036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12340883 SURF1 SURF1 cytochrome c oxidase assembly factor gene DOID:0080324 tuberous sclerosis 1 ISO RGD:732036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12340883 SURF1 SURF1 cytochrome c oxidase assembly factor gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:732036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12340883 SURF1 SURF1 cytochrome c oxidase assembly factor gene DOID:0081097 Rafiq syndrome ISO RGD:732036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12340883 SURF1 SURF1 cytochrome c oxidase assembly factor gene DOID:0110187 Charcot-Marie-Tooth disease type 4K ISO RGD:732036 D RGD:7240710 20180130 OMIM 12340883 SURF1 SURF1 cytochrome c oxidase assembly factor gene DOID:0110187 Charcot-Marie-Tooth disease type 4K ISO RGD:732036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4K PMID:12515039|PMID:16542579|PMID:19780766|PMID:23829769|PMID:24027061|PMID:25741868|PMID:27896082|PMID:28492532 12340883 SURF1 SURF1 cytochrome c oxidase assembly factor gene DOID:0111180 French Canadian Leigh disease ISO RGD:732036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16326995 12340883 SURF1 SURF1 cytochrome c oxidase assembly factor gene DOID:1059 intellectual disability ISO RGD:732036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12340883 SURF1 SURF1 cytochrome c oxidase assembly factor gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:732036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12340883 SURF1 SURF1 cytochrome c oxidase assembly factor gene DOID:3652 Leigh disease ISO RGD:732036 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:10443880|PMID:10556302|PMID:10558868|PMID:10636738|PMID:10746561|PMID:11288709|PMID:11317352|PMID:11423010|PMID:12026244|PMID:14557577|PMID:15214016|PMID:16199547|PMID:16225813|PMID:16542579|PMID:16773507|PMID:17576681|PMID:17908801|PMID:18583168|PMID:19780766|PMID:20624914|PMID:20843780|PMID:21937992|PMID:22488715|PMID:23806086|PMID:23829769|PMID:24027061|PMID:24088041|PMID:24262866|PMID:24462369|PMID:25111564|PMID:25326637|PMID:25741868|PMID:26257172|PMID:26944241|PMID:27475922|PMID:27756633|PMID:27826120|PMID:28429146|PMID:28492532|PMID:28639102|PMID:29933018|PMID:30872186|PMID:31589614|PMID:31967322|PMID:32380162|PMID:32445240|PMID:9536098|PMID:9837813|PMID:9843204 12340883 SURF1 SURF1 cytochrome c oxidase assembly factor gene DOID:3652 Leigh disease ISO RGD:732036 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:10443880|PMID:10556302|PMID:10558868|PMID:10636738|PMID:10746561|PMID:11288709|PMID:11317352|PMID:11423010|PMID:12026244|PMID:12812953|PMID:14557577|PMID:15214016|PMID:16199547|PMID:16225813|PMID:16542579|PMID:16773507|PMID:17576681|PMID:17908801|PMID:18583168|PMID:19780766|PMID:20624914|PMID:20843780|PMID:21937992|PMID:22488715|PMID:23806086|PMID:23829769|PMID:24027061|PMID:24088041|PMID:24262866|PMID:24462369|PMID:25111564|PMID:25326637|PMID:25741868|PMID:26257172|PMID:26944241|PMID:27475922|PMID:27756633|PMID:27826120|PMID:28429146|PMID:28492532|PMID:28639102|PMID:29933018|PMID:30872186|PMID:31589614|PMID:31967322|PMID:32380162|PMID:32445240|PMID:34943053|PMID:9536098|PMID:9837813|PMID:9843204 12340883 SURF1 SURF1 cytochrome c oxidase assembly factor gene DOID:3652 Leigh disease ISO RGD:732036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:10443880|PMID:10556302|PMID:10558868|PMID:10636738|PMID:10746561|PMID:11279059|PMID:11288709|PMID:11317352|PMID:11423010|PMID:12026244|PMID:12515039|PMID:12812953|PMID:14557577|PMID:15214016|PMID:16199547|PMID:16225813|PMID:16326995|PMID:16542579|PMID:16773507|PMID:17576681|PMID:17908801|PMID:18583168|PMID:19780766|PMID:20624914|PMID:20843780|PMID:21937992|PMID:22488715|PMID:23806086|PMID:23829769|PMID:24027061|PMID:24088041|PMID:24262866|PMID:24462369|PMID:25111564|PMID:25326637|PMID:25741868|PMID:26257172|PMID:26944241|PMID:27475922|PMID:27756633|PMID:27826120|PMID:27848944|PMID:27896082|PMID:28429146|PMID:28492532|PMID:28639102|PMID:2933018|PMID:29715184|PMID:29933018|PMID:30872186|PMID:31589614|PMID:31967322|PMID:32380162|PMID:32445240|PMID:33013660|PMID:33134083|PMID:34052969|PMID:34868319|PMID:34943053|PMID:9536098|PMID:9837813|PMID:9843204 12340883 SURF1 SURF1 cytochrome c oxidase assembly factor gene DOID:3652 Leigh disease ISO RGD:732036 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:10443880|PMID:10556302|PMID:10558868|PMID:10636738|PMID:10746561|PMID:11279059|PMID:11288709|PMID:11317352|PMID:11423010|PMID:12026244|PMID:12515039|PMID:12812953|PMID:14557577|PMID:15214016|PMID:16199547|PMID:16225813|PMID:16326995|PMID:16542579|PMID:16773507|PMID:17576681|PMID:17908801|PMID:18583168|PMID:19780766|PMID:20624914|PMID:20843780|PMID:21937992|PMID:22488715|PMID:22700954|PMID:23806086|PMID:23829769|PMID:24027061|PMID:24088041|PMID:24262866|PMID:24462369|PMID:25111564|PMID:25326637|PMID:25741868|PMID:26257172|PMID:26944241|PMID:27475922|PMID:27756633|PMID:27826120|PMID:27848944|PMID:27896082|PMID:28429146|PMID:28492532|PMID:28639102|PMID:2933018|PMID:29715184|PMID:29933018|PMID:30872186|PMID:31589614|PMID:31967322|PMID:32380162|PMID:32445240|PMID:33013660|PMID:33134083|PMID:34052969|PMID:34868319|PMID:34943053|PMID:9536098|PMID:9837813|PMID:9843204 12340883 SURF1 SURF1 cytochrome c oxidase assembly factor gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:732036 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:10443880|PMID:10636738|PMID:10647889|PMID:10746561|PMID:11317352|PMID:15214016|PMID:16199547|PMID:16542579|PMID:21937992|PMID:22488715|PMID:23829769|PMID:24027061|PMID:24462369|PMID:25111564|PMID:25741868|PMID:27756633|PMID:28492532|PMID:28639102|PMID:29933018|PMID:30872186|PMID:32445240|PMID:9837813|PMID:9843204 12340883 SURF1 SURF1 cytochrome c oxidase assembly factor gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:732036 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:10443880|PMID:10636738|PMID:10647889|PMID:10746561|PMID:11317352|PMID:12515039|PMID:15214016|PMID:16199547|PMID:16542579|PMID:17576681|PMID:19780766|PMID:20624914|PMID:21937992|PMID:22488715|PMID:23829769|PMID:24027061|PMID:24462369|PMID:25111564|PMID:25741868|PMID:27756633|PMID:27896082|PMID:28492532|PMID:28639102|PMID:29933018|PMID:30872186|PMID:32445240|PMID:33134083|PMID:35693685|PMID:9536098|PMID:9837813|PMID:9843204 12340883 SURF1 SURF1 cytochrome c oxidase assembly factor gene DOID:630 genetic disease ISO RGD:732036 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10443880|PMID:25741868|PMID:26944241|PMID:27756633|PMID:28492532|PMID:29933018|PMID:33134083|PMID:9837813|PMID:9843204 12340883 SURF1 SURF1 cytochrome c oxidase assembly factor gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:732036 D RGD:7240710 20201111 OMIM 12340883 SURF1 SURF1 cytochrome c oxidase assembly factor gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16765830 12340902 ZNF383 zinc finger protein 383 gene DOID:630 genetic disease ISO RGD:1323532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12340922 HMG20A high mobility group 20A gene DOID:2717 Bloom syndrome ISO RGD:1350467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12340922 HMG20A high mobility group 20A gene DOID:5419 schizophrenia ISO RGD:1350467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12340922 HMG20A high mobility group 20A gene DOID:630 genetic disease ISO RGD:1350467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12340922 HMG20A high mobility group 20A gene DOID:9256 colorectal cancer ISO RGD:1350467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12340922 HMG20A high mobility group 20A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21874001 12340943 KCNK1 potassium two pore domain channel subfamily K member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:731790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12340943 KCNK1 potassium two pore domain channel subfamily K member 1 gene DOID:630 genetic disease ISO RGD:731790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12340943 KCNK1 potassium two pore domain channel subfamily K member 1 gene DOID:9002221 Hyperplasia ISO RGD:731790 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23291559 12340943 KCNK1 potassium two pore domain channel subfamily K member 1 gene DOID:9008681 Deafness ISO RGD:621447 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain, neuron PMID:17884299|REF_RGD_ID:2316516 12340943 KCNK1 potassium two pore domain channel subfamily K member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12340950 CMTR2 cap methyltransferase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1601859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12340950 CMTR2 cap methyltransferase 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1601859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12340950 CMTR2 cap methyltransferase 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1601859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12340950 CMTR2 cap methyltransferase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1601859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 12340950 CMTR2 cap methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1601859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12340956 MCOLN3 mucolipin TRP cation channel 3 gene DOID:630 genetic disease ISO RGD:1318177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12340984 NEMF nuclear export mediator factor gene DOID:0060041 autism spectrum disorder ISO RGD:1317135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12340984 NEMF nuclear export mediator factor gene DOID:440 neuromuscular disease ISO RGD:1317136 D RGD:9068941 20220825 MouseDO 12340984 NEMF nuclear export mediator factor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1317135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12340984 NEMF nuclear export mediator factor gene DOID:630 genetic disease ISO RGD:1317135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12340984 NEMF nuclear export mediator factor gene DOID:870 neuropathy ISO RGD:1317136 D RGD:9068941 20220825 MouseDO 12340984 NEMF nuclear export mediator factor gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1317135 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12340984 NEMF nuclear export mediator factor gene DOID:9004881 Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy ISO RGD:1317135 D RGD:7240710 20201202 OMIM 12340984 NEMF nuclear export mediator factor gene DOID:9004881 Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy ISO RGD:1317135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay and axonal peripheral neuropathy PMID:25741868|PMID:27431290|PMID:33004807|PMID:33048237 12341023 UBL3 ubiquitin like 3 gene DOID:630 genetic disease ISO RGD:1313456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341032 BTF3 basic transcription factor 3 gene DOID:630 genetic disease ISO RGD:1317667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341032 BTF3 basic transcription factor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12341040 LOC609445 palmitoyltransferase ZDHHC11 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1602781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 12341040 LOC609445 palmitoyltransferase ZDHHC11 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1602781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 12341040 LOC609445 palmitoyltransferase ZDHHC11 gene DOID:0080600 COVID-19 ISO RGD:1602781 D RGD:9068941 20201127 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12341040 LOC609445 palmitoyltransferase ZDHHC11 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1602781 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 12341067 FAM111B FAM111 trypsin like peptidase B gene DOID:1059 intellectual disability ISO RGD:1603483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12341067 FAM111B FAM111 trypsin like peptidase B gene DOID:4450 renal cell carcinoma ISO RGD:1603483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 12341067 FAM111B FAM111 trypsin like peptidase B gene DOID:630 genetic disease ISO RGD:1603483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341067 FAM111B FAM111 trypsin like peptidase B gene DOID:633 myositis ISO RGD:1603483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myositis PMID:25741868 12341067 FAM111B FAM111 trypsin like peptidase B gene DOID:684 hepatocellular carcinoma ISO RGD:1603483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12341067 FAM111B FAM111 trypsin like peptidase B gene DOID:9001346 Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis ISO RGD:1603483 D RGD:7240710 20180130 OMIM 12341067 FAM111B FAM111 trypsin like peptidase B gene DOID:9001346 Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis ISO RGD:1603483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sclerosing poikiloderma with tendon and pulmonary involvement PMID:17034542|PMID:24268661|PMID:25741868|PMID:26471370|PMID:26495788|PMID:27406236|PMID:27748098 12341067 FAM111B FAM111 trypsin like peptidase B gene DOID:9003295 Heterotopic Ossification ISO RGD:1603483 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ectopic ossification PMID:25741868 12341067 FAM111B FAM111 trypsin like peptidase B gene DOID:9003358 Kyphosis ISO RGD:1603483 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Kyphosis PMID:25741868 12341067 FAM111B FAM111 trypsin like peptidase B gene DOID:9007661 Dwarfism ISO RGD:1603483 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12341079 SAPCD1 suppressor APC domain containing 1 gene DOID:0050553 JMP syndrome ISO RGD:1352760 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12341079 SAPCD1 suppressor APC domain containing 1 gene DOID:630 genetic disease ISO RGD:1352760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341112 CYLC2 cylicin 2 gene DOID:1059 intellectual disability ISO RGD:1344761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12341112 CYLC2 cylicin 2 gene DOID:630 genetic disease ISO RGD:1344761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341122 MIR18A microRNA mir-18a gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1350945 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 12341122 MIR18A microRNA mir-18a gene DOID:0110878 holoprosencephaly 5 ISO RGD:1350945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 12341122 MIR18A microRNA mir-18a gene DOID:11394 adult respiratory distress syndrome ISO RGD:1350945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12341122 MIR18A microRNA mir-18a gene DOID:6000 congestive heart failure ISO RGD:1350945 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12341122 MIR18A microRNA mir-18a gene DOID:684 hepatocellular carcinoma ISO RGD:1350945 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;miRNA:increased expression:serum (human) PMID:29455432|REF_RGD_ID:15039404 12341122 MIR18A microRNA mir-18a gene DOID:684 hepatocellular carcinoma ISO RGD:1350945 D RGD:9068941 20200609 RGD associated with hepatitis B;miRNA:increased expression:liver (human) PMID:24975878|REF_RGD_ID:15039401 12341122 MIR18A microRNA mir-18a gene DOID:684 hepatocellular carcinoma ISO RGD:1350945 D RGD:9068941 20200609 RGD miRNA:increased expression:liver (human) PMID:19027010|REF_RGD_ID:15039398 12341122 MIR18A microRNA mir-18a gene DOID:684 hepatocellular carcinoma ISO RGD:1608351 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;miRNA:increased expression:serum (human) PMID:29455432|REF_RGD_ID:15039404 12341122 MIR18A microRNA mir-18a gene DOID:684 hepatocellular carcinoma ISO RGD:1608351 D RGD:9068941 20200609 RGD associated with hepatitis B;miRNA:increased expression:liver (human) PMID:24975878|REF_RGD_ID:15039401 12341122 MIR18A microRNA mir-18a gene DOID:684 hepatocellular carcinoma ISO RGD:1608351 D RGD:9068941 20200609 RGD miRNA:increased expression:liver (human) PMID:19027010|REF_RGD_ID:15039398 12341122 MIR18A microRNA mir-18a gene DOID:684 hepatocellular carcinoma ISO RGD:2325396 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;miRNA:increased expression:serum (human) PMID:29455432|REF_RGD_ID:15039404 12341122 MIR18A microRNA mir-18a gene DOID:684 hepatocellular carcinoma ISO RGD:2325396 D RGD:9068941 20200609 RGD associated with hepatitis B;miRNA:increased expression:liver (human) PMID:24975878|REF_RGD_ID:15039401 12341122 MIR18A microRNA mir-18a gene DOID:684 hepatocellular carcinoma ISO RGD:2325396 D RGD:9068941 20200609 RGD miRNA:increased expression:liver (human) PMID:19027010|REF_RGD_ID:15039398 12341122 MIR18A microRNA mir-18a gene DOID:684 hepatocellular carcinoma severity ISO RGD:1350945 D RGD:9068941 20200609 RGD miRNA:increased expression:liver (human) PMID:30191950|PMID:30519035|REF_RGD_ID:15039389|REF_RGD_ID:15039400 12341122 MIR18A microRNA mir-18a gene DOID:684 hepatocellular carcinoma severity ISO RGD:1608351 D RGD:9068941 20200609 RGD miRNA:increased expression:liver (human) PMID:30191950|PMID:30519035|REF_RGD_ID:15039389|REF_RGD_ID:15039400 12341122 MIR18A microRNA mir-18a gene DOID:684 hepatocellular carcinoma severity ISO RGD:2325396 D RGD:9068941 20200609 RGD miRNA:increased expression:liver (human) PMID:30191950|PMID:30519035|REF_RGD_ID:15039389|REF_RGD_ID:15039400 12341122 MIR18A microRNA mir-18a gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1350945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12341122 MIR18A microRNA mir-18a gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12341122 MIR18A microRNA mir-18a gene DOID:9256 colorectal cancer ISO RGD:1350945 D RGD:9068941 20220721 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12341142 FAAP20 FA core complex associated protein 20 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12341142 FAAP20 FA core complex associated protein 20 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12341142 FAAP20 FA core complex associated protein 20 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1604208 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12341142 FAAP20 FA core complex associated protein 20 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1604208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12341142 FAAP20 FA core complex associated protein 20 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1604208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12341142 FAAP20 FA core complex associated protein 20 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1604208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12341142 FAAP20 FA core complex associated protein 20 gene DOID:0111934 immunodeficiency 38 ISO RGD:1604208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12341142 FAAP20 FA core complex associated protein 20 gene DOID:0111935 immunodeficiency 16 ISO RGD:1604208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12341142 FAAP20 FA core complex associated protein 20 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12341142 FAAP20 FA core complex associated protein 20 gene DOID:630 genetic disease ISO RGD:1604208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341142 FAAP20 FA core complex associated protein 20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12341142 FAAP20 FA core complex associated protein 20 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1604208 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12341142 FAAP20 FA core complex associated protein 20 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1604208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12341163 S100A4 S100 calcium binding protein A4 gene DOID:0050902 medulloblastoma ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17579622 12341163 S100A4 S100 calcium binding protein A4 gene DOID:0111940 immunodeficiency 42 ISO RGD:69040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12341163 S100A4 S100 calcium binding protein A4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:69040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12341163 S100A4 S100 calcium binding protein A4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:69040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12341163 S100A4 S100 calcium binding protein A4 gene DOID:11394 adult respiratory distress syndrome ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12341163 S100A4 S100 calcium binding protein A4 gene DOID:11664 nephrosclerosis ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 12341163 S100A4 S100 calcium binding protein A4 gene DOID:13100 intracranial vasospasm ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12186470 12341163 S100A4 S100 calcium binding protein A4 gene DOID:1540 parathyroid carcinoma ISO RGD:69040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12341163 S100A4 S100 calcium binding protein A4 gene DOID:1909 melanoma ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29179997 12341163 S100A4 S100 calcium binding protein A4 gene DOID:326 ischemia ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19458120 12341163 S100A4 S100 calcium binding protein A4 gene DOID:5812 MHC class II deficiency ISO RGD:69040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12341163 S100A4 S100 calcium binding protein A4 gene DOID:630 genetic disease ISO RGD:69040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341163 S100A4 S100 calcium binding protein A4 gene DOID:8398 osteoarthritis ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16948116 12341163 S100A4 S100 calcium binding protein A4 gene DOID:9000058 Keloid ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12341163 S100A4 S100 calcium binding protein A4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21636539|PMID:21685359 12341163 S100A4 S100 calcium binding protein A4 gene DOID:9002928 Colonic Neoplasms ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21685359 12341163 S100A4 S100 calcium binding protein A4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 12341163 S100A4 S100 calcium binding protein A4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:69040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12341175 RAB12 RAB12, member RAS oncogene family gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1346694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12341175 RAB12 RAB12, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1346694 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12341175 RAB12 RAB12, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1346694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:29057844 12341175 RAB12 RAB12, member RAS oncogene family gene DOID:9007102 Myocardial Ischemia ISO RGD:1346694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12341185 PGM5 phosphoglucomutase 5 gene DOID:630 genetic disease ISO RGD:1346061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341185 PGM5 phosphoglucomutase 5 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1346061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12341199 GPR108 G protein-coupled receptor 108 gene DOID:0080490 mucolipidosis type IV ISO RGD:1344702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12341199 GPR108 G protein-coupled receptor 108 gene DOID:630 genetic disease ISO RGD:1344702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341227 CREBZF CREB/ATF bZIP transcription factor gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1603614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 12341227 CREBZF CREB/ATF bZIP transcription factor gene DOID:1059 intellectual disability ISO RGD:1603614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12341227 CREBZF CREB/ATF bZIP transcription factor gene DOID:630 genetic disease ISO RGD:1603614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341251 STK33 serine/threonine kinase 33 gene DOID:630 genetic disease ISO RGD:1315072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341251 STK33 serine/threonine kinase 33 gene DOID:9003100 Pancreatic Neoplasms ISO RGD:1315072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic neoplasm PMID:20581473 12341281 CECR2 CECR2 histone acetyl-lysine reader gene DOID:0060668 anencephaly ISO RGD:1557284 D RGD:9068941 20220825 MouseDO OMIM:206500 12341281 CECR2 CECR2 histone acetyl-lysine reader gene DOID:0080074 neural tube defect ISO RGD:1350048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15640247 12341281 CECR2 CECR2 histone acetyl-lysine reader gene DOID:0111996 immunodeficiency 51 ISO RGD:1350048 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12341281 CECR2 CECR2 histone acetyl-lysine reader gene DOID:12849 autistic disorder ISO RGD:1350048 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 12341281 CECR2 CECR2 histone acetyl-lysine reader gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12341281 CECR2 CECR2 histone acetyl-lysine reader gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1350048 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12341315 SLC12A3 solute carrier family 12 member 3 gene DOID:0050450 Gitelman syndrome ISO RGD:733325 D RGD:7240710 20180130 OMIM 12341315 SLC12A3 solute carrier family 12 member 3 gene DOID:0050450 Gitelman syndrome ISO RGD:733325 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia PMID:10516289|PMID:10561140|PMID:10616841|PMID:10988270|PMID:11168953|PMID:11408395|PMID:11532083|PMID:11940055|PMID:12008755|PMID:12039972|PMID:12112667|PMID:12185467|PMID:12483017|PMID:12704198|PMID:12772080|PMID:12911530|PMID:14655226|PMID:14675033|PMID:14766743|PMID:15002785|PMID:15069170|PMID:15102966|PMID:15198479|PMID:15206555|PMID:15309683|PMID:15687331|PMID:15824853|PMID:15976513|PMID:16199547|PMID:16221718|PMID:16370563|PMID:16471174|PMID:16801039|PMID:16837915|PMID:16932456|PMID:16966826|PMID:17044667|PMID:17059986|PMID:17159356|PMID:17329572|PMID:17414160|PMID:17460608|PMID:17511264|PMID:17576681|PMID:17654016|PMID:17699451|PMID:17873326|PMID:17885550|PMID:18033047|PMID:18270262|PMID:18287808|PMID:18344243|PMID:18362449|PMID:18391953|PMID:18402569|PMID:18580052|PMID:19016647|PMID:19033254|PMID:19207868|PMID:19349556|PMID:19420906|PMID:19451210|PMID:19489442|PMID:19508680|PMID:19668106|PMID:20072789|PMID:20552229|PMID:20675610|PMID:20810575|PMID:20848653|PMID:20981092|PMID:21051746|PMID:21157372|PMID:21256383|PMID:21342329|PMID:21415153|PMID:21628937|PMID:21631963|PMID:21654754|PMID:21753071|PMID:21757836|PMID:22009145|PMID:22169961|PMID:22214629|PMID:22241817|PMID:22245519|PMID:22484642|PMID:22627394|PMID:22679066|PMID:22728489|PMID:22802996|PMID:22934535|PMID:22990302|PMID:23328711|PMID:23475471|PMID:23698802|PMID:23756661|PMID:23833262|PMID:24033266|PMID:24696311|PMID:24759409|PMID:24776766|PMID:24790334|PMID:24825090|PMID:24830959|PMID:25012174|PMID:25112827|PMID:25140267|PMID:25165177|PMID:25422309|PMID:25525159|PMID:25741868|PMID:25741907|PMID:25815233|PMID:25838649|PMID:25841442|PMID:25852896|PMID:25990047|PMID:26041598|PMID:26121437|PMID:26221292|PMID:26260218|PMID:26306968|PMID:26467025|PMID:26484179|PMID:26633545|PMID:26770037|PMID:26825084|PMID:26830254|PMID:26921350|PMID:26990548|PMID:27007659|PMID:27173320|PMID:27216017|PMID:27303630|PMID:27386324|PMID:27453715|PMID:27454426|PMID:27582097|PMID:27872838|PMID:28125972|PMID:28325561|PMID:28469853|PMID:28492532|PMID:28947054|PMID:29378538|PMID:29398133|PMID:29403282|PMID:29925901|PMID:29942493|PMID:29953267|PMID:30084681|PMID:30136149|PMID:30138938|PMID:30413979|PMID:30586318|PMID:30596175|PMID:31183353|PMID:31285285|PMID:31398183|PMID:31672324|PMID:32129221|PMID:32528714|PMID:32542819|PMID:32860008|PMID:33095447|PMID:33121425|PMID:33348466|PMID:33532864|PMID:33807568|PMID:34046503|PMID:34746741|PMID:34805638|PMID:8528245|PMID:8812482|PMID:8865231|PMID:8900229|PMID:8954067|PMID:9536098|PMID:9596079|PMID:9734597 12341315 SLC12A3 solute carrier family 12 member 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733325 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12341315 SLC12A3 solute carrier family 12 member 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733325 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12341315 SLC12A3 solute carrier family 12 member 3 gene DOID:10763 hypertension ISO RGD:733325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18480177 12341315 SLC12A3 solute carrier family 12 member 3 gene DOID:10825 essential hypertension ISO RGD:733325 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R904Q (human) PMID:15480096|REF_RGD_ID:1580589 12341315 SLC12A3 solute carrier family 12 member 3 gene DOID:10825 essential hypertension severity ISO RGD:733325 D RGD:9068941 20200609 RGD DNA:snp:intron:g.1784C>T (human) PMID:15824464|REF_RGD_ID:1580586 12341315 SLC12A3 solute carrier family 12 member 3 gene DOID:178 vascular disease ISO RGD:733325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23348737 12341315 SLC12A3 solute carrier family 12 member 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:733325 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12341315 SLC12A3 solute carrier family 12 member 3 gene DOID:557 kidney disease ISO RGD:733325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21865292 12341315 SLC12A3 solute carrier family 12 member 3 gene DOID:630 genetic disease ISO RGD:733325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11168953|PMID:12039972|PMID:12483017|PMID:14655226|PMID:15002785|PMID:15102966|PMID:15206555|PMID:16199547|PMID:16801039|PMID:17059986|PMID:17159356|PMID:17329572|PMID:17654016|PMID:18033047|PMID:18391953|PMID:19016647|PMID:19451210|PMID:19508680|PMID:20848653|PMID:21415153|PMID:21631963|PMID:21753071|PMID:22009145|PMID:22214629|PMID:22934535|PMID:23328711|PMID:24033266|PMID:24790334|PMID:25422309|PMID:25741868|PMID:25841442|PMID:26467025|PMID:26484179|PMID:26633545|PMID:27303630|PMID:27582097|PMID:28492532|PMID:29925901|PMID:29942493|PMID:30138938|PMID:30586318|PMID:30596175|PMID:31285285|PMID:31672324|PMID:33095447|PMID:34746741|PMID:34805638|PMID:8528245 12341315 SLC12A3 solute carrier family 12 member 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3686 D RGD:9068941 20200609 RGD protein:altered expression:kidney (rat) PMID:15956070|REF_RGD_ID:1580587 12341315 SLC12A3 solute carrier family 12 member 3 gene DOID:9005532 Muscle Weakness ISO RGD:733325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:10988270|PMID:12039972|PMID:17329572|PMID:17654016|PMID:18391953|PMID:21415153|PMID:22009145|PMID:23328711|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26921350|PMID:28492532|PMID:31672324|PMID:8528245|PMID:9734597 12341347 WDR19 WD repeat domain 19 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1353133 D RGD:9068941 20200609 RGD DNA:missense mutations, frameshift mutations, snp:multiple (human) PMID:23683095|REF_RGD_ID:11552600 12341347 WDR19 WD repeat domain 19 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:1353133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia PMID:22019273|PMID:23559409|PMID:23683095|PMID:25726036|PMID:25741868|PMID:26260382|PMID:26275793|PMID:27241786|PMID:27596865|PMID:28492532|PMID:28621010|PMID:29068549|PMID:32165824 12341347 WDR19 WD repeat domain 19 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1353133 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:26489029|PMID:27241786|PMID:28492532|PMID:28973083|PMID:29068549 12341347 WDR19 WD repeat domain 19 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1353133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24504730|PMID:25726036|PMID:25741868|PMID:26275793|PMID:26489029|PMID:27241786|PMID:28492532|PMID:28973083|PMID:29068549 12341347 WDR19 WD repeat domain 19 gene DOID:0050795 cone dystrophy ISO RGD:1353133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549 12341347 WDR19 WD repeat domain 19 gene DOID:0050876 Caroli disease ISO RGD:1353133 D RGD:9068941 20200609 RGD associated with Nephronophthisis 13;DNA:missense mutations:cds:multiple (human) PMID:25726036|REF_RGD_ID:11528287 12341347 WDR19 WD repeat domain 19 gene DOID:0060340 ciliopathy ISO RGD:1549987 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L750P (mouse) PMID:22228095|REF_RGD_ID:11552606 12341347 WDR19 WD repeat domain 19 gene DOID:0060340 ciliopathy ISO RGD:1549987 D RGD:9068941 20220825 MouseDO 12341347 WDR19 WD repeat domain 19 gene DOID:0080806 cranioectodermal dysplasia 4 ISO RGD:1353133 D RGD:7240710 20180130 OMIM 12341347 WDR19 WD repeat domain 19 gene DOID:0080806 cranioectodermal dysplasia 4 ISO RGD:1353133 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 4 PMID:17576681|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24027799|PMID:24027800|PMID:25726036|PMID:25741868|PMID:26260382|PMID:26275793|PMID:27241786|PMID:27596865|PMID:28492532|PMID:28621010|PMID:29068549|PMID:31725169|PMID:32165824|PMID:33517396|PMID:34295353|PMID:9536098 12341347 WDR19 WD repeat domain 19 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1353133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:28973083|PMID:29068549 12341347 WDR19 WD repeat domain 19 gene DOID:0110089 asphyxiating thoracic dystrophy 5 ISO RGD:1353133 D RGD:7240710 20180130 OMIM 12341347 WDR19 WD repeat domain 19 gene DOID:0110089 asphyxiating thoracic dystrophy 5 ISO RGD:1353133 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 5 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY PMID:16199547|PMID:17576681|PMID:19430947|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24027799|PMID:24027800|PMID:24504730|PMID:25726036|PMID:25741868|PMID:26260382|PMID:26275793|PMID:26355662|PMID:26489029|PMID:27241786|PMID:27596865|PMID:28492532|PMID:28621010|PMID:28973083|PMID:29068549|PMID:29801666|PMID:30266093|PMID:31054281|PMID:31725169|PMID:31837199|PMID:32037395|PMID:32165824|PMID:33002628|PMID:33517396|PMID:33532864|PMID:34295353|PMID:9536098 12341347 WDR19 WD repeat domain 19 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1353133 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:25741868|PMID:33002628|PMID:33532864 12341347 WDR19 WD repeat domain 19 gene DOID:0111121 nephronophthisis 13 ISO RGD:1353133 D RGD:7240710 20180130 OMIM 12341347 WDR19 WD repeat domain 19 gene DOID:0111121 nephronophthisis 13 ISO RGD:1353133 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Nephronophthisis 13 PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:25726036|PMID:25741868|PMID:25741897|PMID:26260382|PMID:26275793|PMID:26489029|PMID:27241786|PMID:27596865|PMID:28492532|PMID:28621010|PMID:28973083|PMID:29068549|PMID:32165824|PMID:33002628|PMID:33532864 12341347 WDR19 WD repeat domain 19 gene DOID:10584 retinitis pigmentosa ISO RGD:1353133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 12341347 WDR19 WD repeat domain 19 gene DOID:1059 intellectual disability ISO RGD:1353133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12341347 WDR19 WD repeat domain 19 gene DOID:14791 Leber congenital amaurosis ISO RGD:1353133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:23559409|PMID:25726036|PMID:25741868|PMID:26260382|PMID:27596865|PMID:28492532|PMID:28621010|PMID:32165824 12341347 WDR19 WD repeat domain 19 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353133 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 12341347 WDR19 WD repeat domain 19 gene DOID:630 genetic disease ISO RGD:1353133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549 12341347 WDR19 WD repeat domain 19 gene DOID:65 connective tissue disease ISO RGD:1353133 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:16199547|PMID:17576681|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24027799|PMID:24027800|PMID:25741868|PMID:26275793|PMID:26489029|PMID:27241786|PMID:28492532|PMID:29068549|PMID:33517396|PMID:9536098 12341347 WDR19 WD repeat domain 19 gene DOID:8501 fundus dystrophy ISO RGD:1353133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:26489029|PMID:27241786|PMID:28492532|PMID:29068549|PMID:34295353 12341347 WDR19 WD repeat domain 19 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1353133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 12341347 WDR19 WD repeat domain 19 gene DOID:9004444 Senior-Loken Syndrome 8 ISO RGD:1353133 D RGD:7240710 20180130 OMIM 12341347 WDR19 WD repeat domain 19 gene DOID:9004444 Senior-Loken Syndrome 8 ISO RGD:1353133 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 8 PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24027799|PMID:24027800|PMID:25726036|PMID:25741868|PMID:26260382|PMID:26275793|PMID:26489029|PMID:27241786|PMID:27596865|PMID:28492532|PMID:28621010|PMID:28973083|PMID:29068549|PMID:29801666|PMID:32165824|PMID:33002628|PMID:33517396|PMID:33532864|PMID:34295353 12341347 WDR19 WD repeat domain 19 gene DOID:9005229 Spermatogenic Failure 72 ISO RGD:1353133 D RGD:7240710 20220518 OMIM 12341347 WDR19 WD repeat domain 19 gene DOID:9005229 Spermatogenic Failure 72 ISO RGD:1353133 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 72 PMID:32323121 12341347 WDR19 WD repeat domain 19 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1353133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:28492532|PMID:31837199 12341347 WDR19 WD repeat domain 19 gene DOID:9249 Beemer-Langer syndrome ISO RGD:1353133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549 12341388 AMDHD2 amidohydrolase domain containing 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1603049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12341388 AMDHD2 amidohydrolase domain containing 2 gene DOID:1826 epilepsy ISO RGD:1603049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12341388 AMDHD2 amidohydrolase domain containing 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603049 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12341388 AMDHD2 amidohydrolase domain containing 2 gene DOID:630 genetic disease ISO RGD:1603049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341410 GSTM3 glutathione S-transferase mu 3 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1349768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12341410 GSTM3 glutathione S-transferase mu 3 gene DOID:10652 Alzheimer's disease ISO RGD:1349768 D RGD:9068941 20200609 RGD PMID:15621212|REF_RGD_ID:5688745 12341410 GSTM3 glutathione S-transferase mu 3 gene DOID:10652 Alzheimer's disease ISO RGD:1349768 D RGD:9068941 20200609 RGD DNA:SNP:cds: rs7483 (human) PMID:18423940|REF_RGD_ID:5688729 12341410 GSTM3 glutathione S-transferase mu 3 gene DOID:12849 autistic disorder ISO RGD:1349768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12341410 GSTM3 glutathione S-transferase mu 3 gene DOID:1485 cystic fibrosis ISO RGD:1349768 D RGD:9068941 20200609 RGD PMID:15115915|REF_RGD_ID:5135040 12341410 GSTM3 glutathione S-transferase mu 3 gene DOID:2377 multiple sclerosis disease_progression ISO RGD:1349768 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:10680782|REF_RGD_ID:5490267 12341410 GSTM3 glutathione S-transferase mu 3 gene DOID:2596 larynx cancer ISO RGD:1349768 D RGD:9068941 20200609 RGD PMID:10067818|REF_RGD_ID:5135043 12341410 GSTM3 glutathione S-transferase mu 3 gene DOID:2841 asthma ISO RGD:1349768 D RGD:9068941 20200609 RGD PMID:17550934|REF_RGD_ID:5135038 12341410 GSTM3 glutathione S-transferase mu 3 gene DOID:2841 asthma ISO RGD:1349768 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:11470996|REF_RGD_ID:5135039 12341410 GSTM3 glutathione S-transferase mu 3 gene DOID:3070 high grade glioma ISO RGD:1349768 D RGD:9068941 20200609 RGD DNA: deletion: intron 6 PMID:16598069|REF_RGD_ID:5688743 12341410 GSTM3 glutathione S-transferase mu 3 gene DOID:3347 osteosarcoma ISO RGD:1349768 D RGD:9068941 20200609 RGD PMID:20577141|REF_RGD_ID:5135042 12341410 GSTM3 glutathione S-transferase mu 3 gene DOID:3565 meningioma ISO RGD:1349768 D RGD:9068941 20200609 RGD DNA: deletion: intron 6 PMID:16598069|REF_RGD_ID:5688743 12341410 GSTM3 glutathione S-transferase mu 3 gene DOID:4448 macular degeneration ISO RGD:1349768 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:pigmented layer of retina (human) PMID:22410570|REF_RGD_ID:12792247 12341410 GSTM3 glutathione S-transferase mu 3 gene DOID:630 genetic disease ISO RGD:1349768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341410 GSTM3 glutathione S-transferase mu 3 gene DOID:9001341 Chloracne ISO RGD:1349768 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12341410 GSTM3 glutathione S-transferase mu 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349768 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14968442 12341410 GSTM3 glutathione S-transferase mu 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349768 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25743375 12341410 GSTM3 glutathione S-transferase mu 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1349768 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 12341410 GSTM3 glutathione S-transferase mu 3 gene DOID:9675 pulmonary emphysema ISO RGD:1349768 D RGD:9068941 20200609 RGD PMID:19723343|REF_RGD_ID:5135041 12341422 VAPA VAMP associated protein A gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:737415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12341422 VAPA VAMP associated protein A gene DOID:1059 intellectual disability ISO RGD:737415 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12341422 VAPA VAMP associated protein A gene DOID:543 dystonia ISO RGD:737415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 12341422 VAPA VAMP associated protein A gene DOID:630 genetic disease ISO RGD:737415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341444 PPM1A protein phosphatase, Mg2+/Mn2+ dependent 1A gene DOID:630 genetic disease ISO RGD:731572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341461 ALDOC aldolase, fructose-bisphosphate C gene DOID:438 autoimmune disease of the nervous system ISO RGD:69125 D RGD:9068941 20200609 RGD associated with Streptococcal Infections PMID:16356555|REF_RGD_ID:2301134 12341461 ALDOC aldolase, fructose-bisphosphate C gene DOID:5154 borna disease ISO RGD:2091 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cerebellum, Purkinje cell PMID:17182680|REF_RGD_ID:2301132 12341461 ALDOC aldolase, fructose-bisphosphate C gene DOID:630 genetic disease ISO RGD:69125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341461 ALDOC aldolase, fructose-bisphosphate C gene DOID:684 hepatocellular carcinoma ISO RGD:2091 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:3830170|REF_RGD_ID:2301136 12341461 ALDOC aldolase, fructose-bisphosphate C gene DOID:9007096 Stroke ISO RGD:69125 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:17053973|REF_RGD_ID:2301133 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:0050451 Brugada syndrome ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:733435 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:25741868|PMID:28492532 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:0060320 inguinal hernia ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inguinal hernia PMID:25741868 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:0060797 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM PMID:25326637|PMID:28492532 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:0080006 bone development disease ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:0080324 tuberous sclerosis 1 ISO RGD:733435 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:0080333 aortic valve disease 1 ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic valve disease 1 PMID:25741868|PMID:28492532|PMID:30858776|PMID:31903434 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:0080726 Ehlers-Danlos syndrome classic type 2 ISO RGD:733435 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: EHLERS DANLOS SYNDROME, MITIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 PMID:25741868|PMID:28492532|PMID:32720758|PMID:32938213|PMID:33161638 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:17576681|PMID:19019335|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:24033266|PMID:24685354|PMID:24951259|PMID:25741868|PMID:26608033|PMID:26854089|PMID:27011056|PMID:28166811|PMID:28492532|PMID:29924831|PMID:30858776|PMID:9536098 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:733435 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:17576681|PMID:19019335|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:24033266|PMID:24685354|PMID:24951259|PMID:25741868|PMID:26608033|PMID:26854089|PMID:27011056|PMID:28492532|PMID:29924831|PMID:30858776|PMID:9536098 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:0081097 Rafiq syndrome ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:0110816 hereditary spastic paraplegia 7 ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia Paraplegin type PMID:25326637|PMID:28492532 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency ISO RGD:733435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 17 alpha ketosteroid reductase deficiency of testis PMID:25326637|PMID:25741868|PMID:28492532 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:10283 prostate cancer ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:11836 clubfoot ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:733435 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:10471441|PMID:10602121|PMID:10777716|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:16199547|PMID:16431952|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:25741868|PMID:26608033|PMID:26854089|PMID:28492532|PMID:28550590|PMID:29924831|PMID:30858776|PMID:31064749|PMID:32938213|PMID:33206719 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:733435 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:16751282|PMID:17576681|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24951259|PMID:25741868|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:27959697|PMID:27975164|PMID:28166811|PMID:28454995|PMID:28492532|PMID:28550590|PMID:28748566|PMID:29578302|PMID:29924831|PMID:30467950|PMID:30858776|PMID:31064749|PMID:31625567|PMID:31903434|PMID:32938213|PMID:33206719|PMID:7695699|PMID:7749409|PMID:7929094|PMID:8218237|PMID:8349697|PMID:9536098 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:733435 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:16751282|PMID:17576681|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24951259|PMID:25326637|PMID:25741868|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:27959697|PMID:27975164|PMID:28166811|PMID:28454995|PMID:28492532|PMID:28550590|PMID:28748566|PMID:29578302|PMID:29924831|PMID:30467950|PMID:30858776|PMID:31064749|PMID:31625567|PMID:31903434|PMID:32938213|PMID:33206719|PMID:7695699|PMID:7749409|PMID:7929094|PMID:8218237|PMID:8349697|PMID:9536098 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:733435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:16751282|PMID:17576681|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24951259|PMID:25326637|PMID:25741868|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:27959697|PMID:27975164|PMID:28454995|PMID:28492532|PMID:28550590|PMID:28748566|PMID:29578302|PMID:29924831|PMID:30467950|PMID:30858776|PMID:31064749|PMID:31625567|PMID:31903434|PMID:32938213|PMID:33206719|PMID:7695699|PMID:7749409|PMID:7929094|PMID:8218237|PMID:8349697|PMID:9536098 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:14323 Marfan syndrome ISO RGD:733435 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733435 D RGD:7240710 20180711 OMIM 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733435 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:10471441|PMID:10602121|PMID:10777716|PMID:10796876|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15264295|PMID:15580559|PMID:16199547|PMID:16751282|PMID:17576681|PMID:18972565|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20301422|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24685354|PMID:24951259|PMID:25640679|PMID:25741868|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:28166811|PMID:28454995|PMID:28492532|PMID:28550590|PMID:29924831|PMID:30858776|PMID:31064749|PMID:31141158|PMID:31903434|PMID:32581362|PMID:32720758|PMID:32938213|PMID:35723357|PMID:7695699|PMID:8218237|PMID:8575750|PMID:8923000|PMID:8950675|PMID:9042913|PMID:9536098|PMID:9683580 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733435 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:10471441|PMID:10602121|PMID:10777716|PMID:10796876|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15264295|PMID:15580559|PMID:16199547|PMID:16751282|PMID:17576681|PMID:18972565|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20301422|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24685354|PMID:24951259|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:28166811|PMID:28454995|PMID:28492532|PMID:28550590|PMID:29924831|PMID:30858776|PMID:31064749|PMID:31141158|PMID:31903434|PMID:32581362|PMID:32720758|PMID:32938213|PMID:35723357|PMID:7695699|PMID:8218237|PMID:8575750|PMID:8923000|PMID:8950675|PMID:9042913|PMID:9536098|PMID:9683580 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:10471441|PMID:10602121|PMID:10777716|PMID:10796876|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15264295|PMID:15580559|PMID:16199547|PMID:16431952|PMID:16751282|PMID:17576681|PMID:18972565|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20301422|PMID:20635400|PMID:20979576|PMID:21611149|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24685354|PMID:24951259|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26188975|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:27959697|PMID:27975164|PMID:28454995|PMID:28485813|PMID:28492532|PMID:28550590|PMID:28714197|PMID:28748566|PMID:29578302|PMID:29907982|PMID:29924831|PMID:30467950|PMID:30858776|PMID:31064749|PMID:31141158|PMID:31625567|PMID:31660461|PMID:31903434|PMID:32581362|PMID:32720758|PMID:32766464|PMID:32938213|PMID:33161638|PMID:33206719|PMID:33656776|PMID:33834621|PMID:35723357|PMID:7695699|PMID:8218237|PMID:8575750|PMID:8923000|PMID:8950675|PMID:9042913|PMID:9536098|PMID:9683580 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:2213 hemorrhagic disease ISO RGD:733435 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:29924831|PMID:31064749|PMID:32938213 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:305 carcinoma ISO RGD:733435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:3627 aortic aneurysm ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic dilatation 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:3652 Leigh disease ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:630 genetic disease ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:65 connective tissue disease ISO RGD:733435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:10602121|PMID:10946364|PMID:11992482|PMID:15580559|PMID:17576681|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:24033266|PMID:25741868|PMID:27975164|PMID:28492532|PMID:28550590|PMID:29924831|PMID:30858776|PMID:31903434|PMID:9536098 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:9000058 Keloid ISO RGD:733435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:9000064 Cardiac Arrhythmias ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:9000348 Confusion ISO RGD:733435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Confusion PMID:25741868|PMID:28492532 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:9001752 Shoulder Dislocation ISO RGD:733435 D RGD:8554872 20220517 ClinVar ClinVar Annotator: match by term: Shoulder subluxation 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:9002304 Prostatic Neoplasms ISO RGD:733435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:9003133 Hypertelorism ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:733435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:9003323 Multifocal Fibromuscular Dysplasia ISO RGD:733435 D RGD:7240710 20210526 OMIM 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:9003323 Multifocal Fibromuscular Dysplasia ISO RGD:733435 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:19019335|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:24033266|PMID:24951259|PMID:25741868|PMID:26608033|PMID:27975164|PMID:28492532|PMID:29578302|PMID:32938213 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:733435 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:9005077 Joint Instability ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:25741868 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:28492532|PMID:29907982 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:9007096 Stroke ISO RGD:733435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stroke PMID:19344236|PMID:22696272|PMID:23587214|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237 12341474 COL5A1 collagen type V alpha 1 chain gene DOID:9008810 Spontaneous Rupture ISO RGD:733435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20635400 12341549 OTC ornithine transcarbamylase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12341549 OTC ornithine transcarbamylase gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:732939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:22929960|PMID:27701760|PMID:28492532 12341549 OTC ornithine transcarbamylase gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:732939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 12341549 OTC ornithine transcarbamylase gene DOID:12849 autistic disorder ISO RGD:732939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12341549 OTC ornithine transcarbamylase gene DOID:13580 cholestasis ISO RGD:3236 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:15916970|REF_RGD_ID:4143230 12341549 OTC ornithine transcarbamylase gene DOID:1561 cognitive disorder ISO RGD:732939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8778603 12341549 OTC ornithine transcarbamylase gene DOID:630 genetic disease ISO RGD:732939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10946359|PMID:16786505|PMID:17041896|PMID:17334707|PMID:17565723|PMID:17576681|PMID:18440262|PMID:23769969|PMID:24010702|PMID:2474822|PMID:25433810|PMID:25741868|PMID:25994866|PMID:28266016|PMID:2836378|PMID:28492532|PMID:28887792|PMID:34014569|PMID:8260194|PMID:8829665|PMID:8830175|PMID:9286441|PMID:9536098|PMID:9610619 12341549 OTC ornithine transcarbamylase gene DOID:684 hepatocellular carcinoma severity ISO RGD:732939 D RGD:9068941 20220616 RGD mRNA:altered expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 12341549 OTC ornithine transcarbamylase gene DOID:9000722 Animal Hepatitis ISO RGD:3236 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8821709|REF_RGD_ID:2303519 12341549 OTC ornithine transcarbamylase gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:3236 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:19101528|REF_RGD_ID:4144059 12341549 OTC ornithine transcarbamylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3236 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:7865721|REF_RGD_ID:4144080 12341549 OTC ornithine transcarbamylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12341549 OTC ornithine transcarbamylase gene DOID:9001708 Hemorrhagic Shock ISO RGD:3236 D RGD:9068941 20200609 RGD protein:increased activity:serum (rat) PMID:17224795|REF_RGD_ID:1643525 12341549 OTC ornithine transcarbamylase gene DOID:9002231 Fetal Growth Retardation ISO RGD:3236 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:8929856|REF_RGD_ID:4144077 12341549 OTC ornithine transcarbamylase gene DOID:9002802 Acidoses ISO RGD:3236 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:9472964|REF_RGD_ID:4144071 12341549 OTC ornithine transcarbamylase gene DOID:9002955 Nerve Degeneration ISO RGD:732939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24161480 12341549 OTC ornithine transcarbamylase gene DOID:9004009 Reperfusion Injury ISO RGD:3236 D RGD:9068941 20200609 RGD protein:increased activity:serum PMID:1499453|REF_RGD_ID:4144083 12341549 OTC ornithine transcarbamylase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12341549 OTC ornithine transcarbamylase gene DOID:9004484 Sepsis ISO RGD:3236 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:10353541|REF_RGD_ID:4144069 12341549 OTC ornithine transcarbamylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3236 D RGD:9068941 20200609 RGD protein:decreased activity:small intestine (rat) PMID:9628242|REF_RGD_ID:4144123 12341549 OTC ornithine transcarbamylase gene DOID:9005930 Endotoxemia ISO RGD:732939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16741687 12341549 OTC ornithine transcarbamylase gene DOID:9007820 Sudden Death ISO RGD:732939 D RGD:9068941 20200609 RGD death due to neonatal-onset hyperammonaemic encephalopathy PMID:17262046|REF_RGD_ID:1601074 12341549 OTC ornithine transcarbamylase gene DOID:9007874 Liver Failure ISO RGD:3236 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:11779202|REF_RGD_ID:70249 12341549 OTC ornithine transcarbamylase gene DOID:9008086 Developmental Disabilities ISO RGD:732939 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 12341549 OTC ornithine transcarbamylase gene DOID:9008972 Hyperammonemia ISO RGD:732939 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hyperammonaemia | ClinVar Annotator: match by term: Hyperammonemia PMID:17613537|PMID:18204299|PMID:18440262|PMID:25637381|PMID:25741868|PMID:28492532|PMID:33489762|PMID:8807340 12341549 OTC ornithine transcarbamylase gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:732939 D RGD:7240710 20180130 OMIM 12341549 OTC ornithine transcarbamylase gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:732939 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: OTC deficiency | ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10070627|PMID:10405441|PMID:10502831|PMID:10737985|PMID:10799432|PMID:10869432|PMID:10946359|PMID:11102556|PMID:11117428|PMID:11260212|PMID:11388595|PMID:11745010|PMID:11768581|PMID:11793468|PMID:11793483|PMID:12083811|PMID:12402347|PMID:12536032|PMID:12579493|PMID:1353535|PMID:1480464|PMID:14976564|PMID:15060014|PMID:15174800|PMID:16055928|PMID:16199547|PMID:1627356|PMID:1671317|PMID:16786505|PMID:16969763|PMID:17041896|PMID:17044854|PMID:1721894|PMID:17334707|PMID:17565723|PMID:17576681|PMID:1757964|PMID:17613537|PMID:17922216|PMID:18204299|PMID:18440262|PMID:18487280|PMID:18604903|PMID:18662984|PMID:19138872|PMID:19475717|PMID:19669271|PMID:19783189|PMID:19893582|PMID:2035531|PMID:2037279|PMID:20406775|PMID:20458665|PMID:20817516|PMID:21070677|PMID:21488237|PMID:21956151|PMID:2208768|PMID:22099885|PMID:22340867|PMID:22382802|PMID:2246687|PMID:22494545|PMID:22727265|PMID:23209112|PMID:23278509|PMID:2347583|PMID:23551631|PMID:23568734|PMID:23769969|PMID:24006547|PMID:24010702|PMID:24033266|PMID:24055113|PMID:24199608|PMID:24449986|PMID:2474822|PMID:25011434|PMID:25026867|PMID:25297582|PMID:25425289|PMID:25433810|PMID:2556444|PMID:25637381|PMID:25741868|PMID:25741869|PMID:25853564|PMID:25854183|PMID:25949836|PMID:25994866|PMID:26059767|PMID:26467025|PMID:26574542|PMID:26753873|PMID:26819360|PMID:27070778|PMID:2741942|PMID:27489649|PMID:27738433|PMID:28107167|PMID:28261508|PMID:28266016|PMID:28324312|PMID:2836378|PMID:2843770|PMID:28492532|PMID:28815739|PMID:28887792|PMID:29123827|PMID:29282796|PMID:29581464|PMID:30175132|PMID:30285816|PMID:30626930|PMID:31130284|PMID:31426867|PMID:3170748|PMID:32272297|PMID:32410394|PMID:32793520|PMID:32853555|PMID:32934962|PMID:32995020|PMID:33272297|PMID:33369132|PMID:33489762|PMID:33851512|PMID:34014557|PMID:34014569|PMID:34906067|PMID:36303552|PMID:7474892|PMID:7474905|PMID:7627182|PMID:7860064|PMID:7860066|PMID:7951259|PMID:8019569|PMID:8081398|PMID:8099056|PMID:8112735|PMID:8260194|PMID:8295401|PMID:8364586|PMID:8365726|PMID:8530002|PMID:8566955|PMID:8786061|PMID:8807340|PMID:8829665|PMID:8830175|PMID:8857803|PMID:8863155|PMID:8956038|PMID:8985493|PMID:9007316|PMID:9028466|PMID:9048915|PMID:9056557|PMID:9143919|PMID:9175746|PMID:9266387|PMID:9266388|PMID:9286441|PMID:9427144|PMID:9452024|PMID:9452049|PMID:9501271|PMID:9536098|PMID:9609999|PMID:9610619|PMID:9686344|PMID:9852088 12341549 OTC ornithine transcarbamylase gene DOID:936 brain disease ISO RGD:732939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8778603 12341549 OTC ornithine transcarbamylase gene DOID:9452 fatty liver disease ISO RGD:3236 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:18823438|REF_RGD_ID:4144061 12341549 OTC ornithine transcarbamylase gene DOID:9562 primary ciliary dyskinesia ISO RGD:732939 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:10946359|PMID:11793468|PMID:16055928|PMID:16786505|PMID:16969763|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 12341549 OTC ornithine transcarbamylase gene DOID:9970 obesity ISO RGD:3236 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:1330956|REF_RGD_ID:4144087 12341572 EPHA1 EPH receptor A1 gene DOID:10652 Alzheimer's disease ISO RGD:1312265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21460840|PMID:21460841 12341572 EPHA1 EPH receptor A1 gene DOID:630 genetic disease ISO RGD:1312265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341572 EPHA1 EPH receptor A1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1312265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19277044 12341594 CLDN24 claudin 24 gene DOID:630 genetic disease ISO RGD:3378218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341599 CD300A CD300a molecule gene DOID:630 genetic disease ISO RGD:1344130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341620 GRK1 G protein-coupled receptor kinase 1 gene DOID:0050534 congenital stationary night blindness ISO RGD:1345543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:30718709 12341620 GRK1 G protein-coupled receptor kinase 1 gene DOID:0110713 Oguchi disease-2 ISO RGD:1345543 D RGD:7240710 20180808 OMIM 12341620 GRK1 G protein-coupled receptor kinase 1 gene DOID:0110713 Oguchi disease-2 ISO RGD:1345543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oguchi disease-2 PMID:16319817|PMID:17070587|PMID:17765441|PMID:19753316|PMID:22959359|PMID:26349155|PMID:27511724|PMID:28418496|PMID:28511019|PMID:30718709|PMID:9020843|PMID:9419375 12341620 GRK1 G protein-coupled receptor kinase 1 gene DOID:2222 factor X deficiency ISO RGD:1345543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12341620 GRK1 G protein-coupled receptor kinase 1 gene DOID:5679 retinal disease ISO RGD:619712 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:retina PMID:10549637|REF_RGD_ID:1600004 12341620 GRK1 G protein-coupled receptor kinase 1 gene DOID:6000 congestive heart failure ISO RGD:619712 D RGD:9068941 20200609 RGD PMID:12456492|REF_RGD_ID:1600002 12341620 GRK1 G protein-coupled receptor kinase 1 gene DOID:630 genetic disease ISO RGD:1345543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341620 GRK1 G protein-coupled receptor kinase 1 gene DOID:8498 hereditary night blindness ISO RGD:1345543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oguchi disease PMID:25741868 12341620 GRK1 G protein-coupled receptor kinase 1 gene DOID:8499 night blindness ISO RGD:1345543 D RGD:9068941 20200609 RGD DNA:deletions, missense mutation, frameshift mutation PMID:9020843|REF_RGD_ID:1600000 12341620 GRK1 G protein-coupled receptor kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619712 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:15939031|REF_RGD_ID:1600001 12341620 GRK1 G protein-coupled receptor kinase 1 gene DOID:9005968 Neuralgia ISO RGD:1345543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31432094 12341630 RASSF2 Ras association domain family member 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1313644 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12341630 RASSF2 Ras association domain family member 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1313644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12341630 RASSF2 Ras association domain family member 2 gene DOID:630 genetic disease ISO RGD:1313644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341630 RASSF2 Ras association domain family member 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1313644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013896 12341630 RASSF2 Ras association domain family member 2 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:1313644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013896 12341646 RASAL1 RAS protein activator like 1 gene DOID:557 kidney disease ISO RGD:1323476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23665422 12341646 RASAL1 RAS protein activator like 1 gene DOID:630 genetic disease ISO RGD:1323476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341671 CABIN1 calcineurin binding protein 1 gene DOID:10283 prostate cancer ISO RGD:732324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12341671 CABIN1 calcineurin binding protein 1 gene DOID:1826 epilepsy ISO RGD:732324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12341671 CABIN1 calcineurin binding protein 1 gene DOID:4001 ovarian carcinoma ISO RGD:732324 D RGD:9068941 20200609 RGD DNA:hypermethylation: : PMID:18757082|REF_RGD_ID:10054392 12341671 CABIN1 calcineurin binding protein 1 gene DOID:5419 schizophrenia ISO RGD:732324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12341671 CABIN1 calcineurin binding protein 1 gene DOID:630 genetic disease ISO RGD:732324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341671 CABIN1 calcineurin binding protein 1 gene DOID:9002457 Experimental Arthritis ISO RGD:732324 D RGD:9068941 20200609 RGD PMID:22275266|REF_RGD_ID:10054391 12341671 CABIN1 calcineurin binding protein 1 gene DOID:9003936 Cardiomegaly ISO RGD:732324 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11248077 12341716 NUDC nuclear distribution C, dynein complex regulator gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:731477 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12341716 NUDC nuclear distribution C, dynein complex regulator gene DOID:3883 Lynch syndrome ISO RGD:731477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer PMID:33094510 12341716 NUDC nuclear distribution C, dynein complex regulator gene DOID:3883 Lynch syndrome ISO RGD:731477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer PMID:11136233|PMID:20233523|PMID:28492532|PMID:33094510 12341716 NUDC nuclear distribution C, dynein complex regulator gene DOID:3883 Lynch syndrome ISO RGD:731477 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer PMID:11136233|PMID:20233523|PMID:25741868|PMID:28492532|PMID:33094510 12341716 NUDC nuclear distribution C, dynein complex regulator gene DOID:630 genetic disease ISO RGD:731477 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12341716 NUDC nuclear distribution C, dynein complex regulator gene DOID:9970 obesity ISO RGD:731477 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, mild, early-onset PMID:11136233|PMID:25741868|PMID:28492532|PMID:33094510 12341716 NUDC nuclear distribution C, dynein complex regulator gene DOID:9970 obesity ISO RGD:731477 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, mild, early-onset PMID:11136233|PMID:20233523|PMID:25741868|PMID:28492532|PMID:33094510 12341729 PADI2 peptidyl arginine deiminase 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1348232 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12341729 PADI2 peptidyl arginine deiminase 2 gene DOID:0080600 COVID-19 ISO RGD:1348232 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12341729 PADI2 peptidyl arginine deiminase 2 gene DOID:630 genetic disease ISO RGD:1348232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341729 PADI2 peptidyl arginine deiminase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1348232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis 12341729 PADI2 peptidyl arginine deiminase 2 gene DOID:9008037 Paragangliomas 4 ISO RGD:1348232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paragangliomas 4 PMID:18057081 12341729 PADI2 peptidyl arginine deiminase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:16258955|PMID:19351833|PMID:23666964|PMID:28492532 12341747 RGS4 regulator of G protein signaling 4 gene DOID:0080855 Parkinsonism treatment ISO RGD:70083 D RGD:9068941 20200609 RGD PMID:25844489|REF_RGD_ID:13524517 12341747 RGS4 regulator of G protein signaling 4 gene DOID:10763 hypertension treatment ISO RGD:3567 D RGD:9068941 20200609 RGD PMID:21825230|REF_RGD_ID:7207400 12341747 RGS4 regulator of G protein signaling 4 gene DOID:11206 opioid abuse ISO RGD:3567 D RGD:9068941 20200609 RGD PMID:22056472|REF_RGD_ID:13524518 12341747 RGS4 regulator of G protein signaling 4 gene DOID:12528 lesion of sciatic nerve ISO RGD:3567 D RGD:9068941 20200609 RGD mRNA:decreased expression:dorsal root ganglion PMID:14550772|REF_RGD_ID:13524539 12341747 RGS4 regulator of G protein signaling 4 gene DOID:1540 parathyroid carcinoma ISO RGD:70082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12341747 RGS4 regulator of G protein signaling 4 gene DOID:1824 status epilepticus ISO RGD:3567 D RGD:9068941 20200609 RGD PMID:19126440|REF_RGD_ID:13524534 12341747 RGS4 regulator of G protein signaling 4 gene DOID:1826 epilepsy treatment ISO RGD:3567 D RGD:9068941 20200609 RGD PMID:28320185|REF_RGD_ID:13524511 12341747 RGS4 regulator of G protein signaling 4 gene DOID:289 endometriosis ISO RGD:70082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12341747 RGS4 regulator of G protein signaling 4 gene DOID:365 bladder disease treatment ISO RGD:3567 D RGD:9068941 20200609 RGD associated with hypertension PMID:19689474|REF_RGD_ID:9684972 12341747 RGS4 regulator of G protein signaling 4 gene DOID:630 genetic disease ISO RGD:70082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341747 RGS4 regulator of G protein signaling 4 gene DOID:9002211 Hyperalgesia treatment ISO RGD:3567 D RGD:9068941 20200609 RGD associated with lesion of sciatic nerve PMID:27641322|REF_RGD_ID:13524513 12341747 RGS4 regulator of G protein signaling 4 gene DOID:9007090 Experimental Seizures ISO RGD:3567 D RGD:9068941 20200609 RGD PMID:12358788|REF_RGD_ID:13524540 12341747 RGS4 regulator of G protein signaling 4 gene DOID:9008394 Drug-Induced Dyskinesia treatment ISO RGD:3567 D RGD:9068941 20200609 RGD associated with Parkinsonian Disorders PMID:24969021|REF_RGD_ID:13524515 12341747 RGS4 regulator of G protein signaling 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:70082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12341758 AMN1 antagonist of mitotic exit network 1 homolog gene DOID:630 genetic disease ISO RGD:1606942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341776 LAYN layilin gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1604525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 12341776 LAYN layilin gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1604525 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 12341776 LAYN layilin gene DOID:1059 intellectual disability ISO RGD:1604525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12341776 LAYN layilin gene DOID:12704 ataxia telangiectasia ISO RGD:1604525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12341776 LAYN layilin gene DOID:630 genetic disease ISO RGD:1604525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341776 LAYN layilin gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12341776 LAYN layilin gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1604525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 12341793 LY6G5B lymphocyte antigen 6 family member G5B gene DOID:0050553 JMP syndrome ISO RGD:1349012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12341793 LY6G5B lymphocyte antigen 6 family member G5B gene DOID:11372 megacolon ISO RGD:1349012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12341793 LY6G5B lymphocyte antigen 6 family member G5B gene DOID:630 genetic disease ISO RGD:1349012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341805 MTSS2 MTSS I-BAR domain containing 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1603934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12341805 MTSS2 MTSS I-BAR domain containing 2 gene DOID:0081301 intellectual developmental disorder with ocular anomalies and distinctive facial features ISO RGD:1603934 D RGD:7240710 20221102 OMIM 12341805 MTSS2 MTSS I-BAR domain containing 2 gene DOID:0081301 intellectual developmental disorder with ocular anomalies and distinctive facial features ISO RGD:1603934 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: MTSS2-related neurodevelopmental disorder PMID:25741868|PMID:36067766 12341805 MTSS2 MTSS I-BAR domain containing 2 gene DOID:630 genetic disease ISO RGD:1603934 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341805 MTSS2 MTSS I-BAR domain containing 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1603934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 12341833 PLSCR5 phospholipid scramblase family member 5 gene DOID:630 genetic disease ISO RGD:1349492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341849 MAP1LC3C microtubule associated protein 1 light chain 3 gamma gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1606859 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12341849 MAP1LC3C microtubule associated protein 1 light chain 3 gamma gene DOID:0111261 fumarase deficiency ISO RGD:1606859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12761039|PMID:21398687|PMID:22069215|PMID:28300276|PMID:28492532 12341849 MAP1LC3C microtubule associated protein 1 light chain 3 gamma gene DOID:1540 parathyroid carcinoma ISO RGD:1606859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12341849 MAP1LC3C microtubule associated protein 1 light chain 3 gamma gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12341849 MAP1LC3C microtubule associated protein 1 light chain 3 gamma gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1606859 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 12341849 MAP1LC3C microtubule associated protein 1 light chain 3 gamma gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12341857 SELPLG selectin P ligand gene DOID:0060180 colitis ISO RGD:1317473 D RGD:9068941 20200609 RGD PMID:22009715|REF_RGD_ID:6218987 12341857 SELPLG selectin P ligand gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1317472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12341857 SELPLG selectin P ligand gene DOID:0080600 COVID-19 ISO RGD:1317472 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 12341857 SELPLG selectin P ligand gene DOID:3407 carotid artery disease ISO RGD:1317472 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M62I (human) PMID:22307784|REF_RGD_ID:6218985 12341857 SELPLG selectin P ligand gene DOID:630 genetic disease ISO RGD:1317472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341867 LOC612180 immunoglobulin lambda variable 1-40 gene DOID:0080600 COVID-19 ISO RGD:1351842 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12341872 CDK19 cyclin dependent kinase 19 gene DOID:0112221 developmental and epileptic encephalopathy 87 ISO RGD:1343762 D RGD:7240710 20200701 OMIM 12341872 CDK19 cyclin dependent kinase 19 gene DOID:0112221 developmental and epileptic encephalopathy 87 ISO RGD:1343762 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 87 PMID:25741868|PMID:32330417|PMID:33134521|PMID:33495529|PMID:33568421 12341872 CDK19 cyclin dependent kinase 19 gene DOID:10907 microcephaly ISO RGD:1343762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12341872 CDK19 cyclin dependent kinase 19 gene DOID:630 genetic disease ISO RGD:1343762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32330417 12341872 CDK19 cyclin dependent kinase 19 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1305435 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:18008145|REF_RGD_ID:2316019 12341872 CDK19 cyclin dependent kinase 19 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12341893 PKIB cAMP-dependent protein kinase inhibitor beta gene DOID:1826 epilepsy ISO RGD:736855 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12341893 PKIB cAMP-dependent protein kinase inhibitor beta gene DOID:630 genetic disease ISO RGD:736855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341931 ZNF664 zinc finger protein 664 gene DOID:630 genetic disease ISO RGD:1606961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12341950 LRFN3 leucine rich repeat and fibronectin type III domain containing 3 gene DOID:0080600 COVID-19 ISO RGD:1313671 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12341950 LRFN3 leucine rich repeat and fibronectin type III domain containing 3 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1313671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12341950 LRFN3 leucine rich repeat and fibronectin type III domain containing 3 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1313671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12341950 LRFN3 leucine rich repeat and fibronectin type III domain containing 3 gene DOID:630 genetic disease ISO RGD:1313671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342010 UBE2B ubiquitin conjugating enzyme E2 B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349526 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12342010 UBE2B ubiquitin conjugating enzyme E2 B gene DOID:630 genetic disease ISO RGD:1349526 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342010 UBE2B ubiquitin conjugating enzyme E2 B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12342010 UBE2B ubiquitin conjugating enzyme E2 B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12342010 UBE2B ubiquitin conjugating enzyme E2 B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349526 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12342021 FGB fibrinogen beta chain gene DOID:0060903 thrombosis ISO RGD:734251 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombus PMID:10688828|PMID:19420351|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31064749 12342021 FGB fibrinogen beta chain gene DOID:0060903 thrombosis susceptibility ISO RGD:734251 D RGD:9068941 20200609 RGD associated with Lupus Nephritis;;DNA:polymorphism: :-455G>A (human) PMID:17469143|REF_RGD_ID:7175506 12342021 FGB fibrinogen beta chain gene DOID:11476 osteoporosis ISO RGD:734251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12342021 FGB fibrinogen beta chain gene DOID:1287 cardiovascular system disease disease_progression ISO RGD:734251 D RGD:9068941 20200609 RGD PMID:18278190|REF_RGD_ID:5688760 12342021 FGB fibrinogen beta chain gene DOID:14330 Parkinson's disease ISO RGD:734251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23233872 12342021 FGB fibrinogen beta chain gene DOID:2213 hemorrhagic disease ISO RGD:734251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10688828|PMID:19420351|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31064749 12342021 FGB fibrinogen beta chain gene DOID:2236 congenital afibrinogenemia ISO RGD:734251 D RGD:7240710 20180130 OMIM 12342021 FGB fibrinogen beta chain gene DOID:2236 congenital afibrinogenemia ISO RGD:734251 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Hypofibrinogenemia PMID:10666208|PMID:10688828|PMID:11468164|PMID:12161363|PMID:12393540|PMID:12573244|PMID:15070683|PMID:1565641|PMID:15795540|PMID:19420351|PMID:21713329|PMID:22273812|PMID:22836883|PMID:23061815|PMID:24033266|PMID:24679643|PMID:25320241|PMID:25592583|PMID:25741868|PMID:27164460|PMID:28492532|PMID:30349899|PMID:31064749|PMID:31314131|PMID:3194892|PMID:34355501 12342021 FGB fibrinogen beta chain gene DOID:2945 severe acute respiratory syndrome ISO RGD:734252 D RGD:9068941 20200625 RGD protein:increased expression:lung (mouse) PMID:23919993|REF_RGD_ID:30310231 12342021 FGB fibrinogen beta chain gene DOID:3393 coronary artery disease ISO RGD:734251 D RGD:9068941 20200609 RGD PMID:8565160|REF_RGD_ID:1580382 12342021 FGB fibrinogen beta chain gene DOID:3407 carotid artery disease ISO RGD:734251 D RGD:9068941 20200609 RGD PMID:9514419|REF_RGD_ID:1580383 12342021 FGB fibrinogen beta chain gene DOID:4989 pancreatitis ISO RGD:2604 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, rough endoplasmic reticulum PMID:19954227|REF_RGD_ID:5688770 12342021 FGB fibrinogen beta chain gene DOID:5844 myocardial infarction ISO RGD:734251 D RGD:9068941 20200609 RGD PMID:9437197|REF_RGD_ID:1580381 12342021 FGB fibrinogen beta chain gene DOID:630 genetic disease ISO RGD:734251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12342021 FGB fibrinogen beta chain gene DOID:783 end stage renal disease treatment ISO RGD:734251 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphism: :-455G>A (human) PMID:19352213|REF_RGD_ID:7175505 12342021 FGB fibrinogen beta chain gene DOID:9003464 Congenital Dysfibrinogenemia ISO RGD:734251 D RGD:7240710 20180130 OMIM 12342021 FGB fibrinogen beta chain gene DOID:9003464 Congenital Dysfibrinogenemia ISO RGD:734251 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dysfibrinogenemia, congenital PMID:25741868 12342021 FGB fibrinogen beta chain gene DOID:9003871 Venous Thrombosis ISO RGD:734251 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:12573244|PMID:15795540|PMID:25741868|PMID:28492532|PMID:31064749 12342021 FGB fibrinogen beta chain gene DOID:9004929 Congenital Hypodysfibrinogenemia ISO RGD:734251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 2 | ClinVar Annotator: match by term: FIBRINOGEN CHRISTCHURCH 2 | ClinVar Annotator: match by term: FIBRINOGEN LONGMONT PMID:11468164|PMID:1565641|PMID:23061815|PMID:24679643|PMID:25320241|PMID:25741868|PMID:28492532|PMID:31064749|PMID:31314131|PMID:3194892 12342021 FGB fibrinogen beta chain gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2604 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:21685370|REF_RGD_ID:7175292 12342021 FGB fibrinogen beta chain gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:734251 D RGD:9068941 20200609 RGD PMID:21685370|REF_RGD_ID:7175292 12342021 FGB fibrinogen beta chain gene DOID:9007096 Stroke ISO RGD:734251 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:1565641|PMID:23061815|PMID:24679643|PMID:25320241|PMID:25741868|PMID:31064749|PMID:31314131 12342021 FGB fibrinogen beta chain gene DOID:9007096 Stroke susceptibility ISO RGD:734251 D RGD:9068941 20200609 RGD DNA:SNP:promoter:1038G>A (rs1800791) (human) PMID:18278190|REF_RGD_ID:5688760 12342021 FGB fibrinogen beta chain gene DOID:9007096 Stroke susceptibility ISO RGD:734251 D RGD:9068941 20200609 RGD DNA:polymorphism: :-455G>A(human) PMID:24107890|REF_RGD_ID:10450767 12342021 FGB fibrinogen beta chain gene DOID:9352 type 2 diabetes mellitus ISO RGD:734251 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:7974333|REF_RGD_ID:2312416 12342021 FGB fibrinogen beta chain gene DOID:9477 pulmonary embolism ISO RGD:2604 D RGD:9068941 20200609 RGD protein:increased expression:blood microparticle PMID:22014850|REF_RGD_ID:5688769 12342034 XRRA1 X-ray radiation resistance associated 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1313568 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12342034 XRRA1 X-ray radiation resistance associated 1 gene DOID:1059 intellectual disability ISO RGD:1313568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12342034 XRRA1 X-ray radiation resistance associated 1 gene DOID:630 genetic disease ISO RGD:1313568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342063 GDF3 growth differentiation factor 3 gene DOID:0060249 scoliosis ISO RGD:1345464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:19864492|PMID:25741868|PMID:28492532 12342063 GDF3 growth differentiation factor 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1345464 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12342063 GDF3 growth differentiation factor 3 gene DOID:0060838 isolated microphthalmia 7 ISO RGD:1345464 D RGD:7240710 20180130 OMIM 12342063 GDF3 growth differentiation factor 3 gene DOID:0060838 isolated microphthalmia 7 ISO RGD:1345464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 7 PMID:19864492|PMID:28492532 12342063 GDF3 growth differentiation factor 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1345464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12342063 GDF3 growth differentiation factor 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1345464 D RGD:7240710 20180130 OMIM 12342063 GDF3 growth differentiation factor 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1345464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:19864492|PMID:25741868|PMID:28492532|PMID:29735971 12342063 GDF3 growth differentiation factor 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1345464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12342063 GDF3 growth differentiation factor 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1345464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12342063 GDF3 growth differentiation factor 3 gene DOID:630 genetic disease ISO RGD:1345464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342063 GDF3 growth differentiation factor 3 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1345464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 12342063 GDF3 growth differentiation factor 3 gene DOID:9001685 Isolated Microphthalmia with Coloboma 6 ISO RGD:1345464 D RGD:7240710 20180130 OMIM 12342063 GDF3 growth differentiation factor 3 gene DOID:9001685 Isolated Microphthalmia with Coloboma 6 ISO RGD:1345464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6 PMID:19864492|PMID:24281366|PMID:25741868|PMID:28492532 12342063 GDF3 growth differentiation factor 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1345464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12342069 EMG1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:0050684 Bowen-Conradi syndrome ISO RGD:1607076 D RGD:7240710 20180130 OMIM 12342069 EMG1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:0050684 Bowen-Conradi syndrome ISO RGD:1607076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bowen-Conradi syndrome PMID:19463982|PMID:25741868|PMID:28492532 12342069 EMG1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1607076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12342069 EMG1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1607076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12342069 EMG1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1607076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12342069 EMG1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1607076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12342069 EMG1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:0111621 Temtamy syndrome ISO RGD:1607076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12342069 EMG1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1607076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12342069 EMG1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:630 genetic disease ISO RGD:1607076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342069 EMG1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1607076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12342079 PDLIM5 PDZ and LIM domain 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:1553828 D RGD:9068941 20220825 MouseDO 12342079 PDLIM5 PDZ and LIM domain 5 gene DOID:630 genetic disease ISO RGD:1344700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342079 PDLIM5 PDZ and LIM domain 5 gene DOID:8778 Crohn's disease ISO RGD:1344700 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 12342079 PDLIM5 PDZ and LIM domain 5 gene DOID:9007102 Myocardial Ischemia ISO RGD:1344700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12342079 PDLIM5 PDZ and LIM domain 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12342139 IFT43 intraflagellar transport 43 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1602079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy 12342139 IFT43 intraflagellar transport 43 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:1602079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 12342139 IFT43 intraflagellar transport 43 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1602079 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:25741868|PMID:28400947|PMID:28492532|PMID:29068549 12342139 IFT43 intraflagellar transport 43 gene DOID:0080292 retinitis pigmentosa 81 ISO RGD:1602079 D RGD:7240710 20190315 OMIM 12342139 IFT43 intraflagellar transport 43 gene DOID:0080292 retinitis pigmentosa 81 ISO RGD:1602079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 81 PMID:16199547|PMID:21378380|PMID:25741868|PMID:28400947|PMID:28492532|PMID:28973684 12342139 IFT43 intraflagellar transport 43 gene DOID:0080293 short-rib thoracic dysplasia 18 with polydactyly ISO RGD:1602079 D RGD:7240710 20190315 OMIM 12342139 IFT43 intraflagellar transport 43 gene DOID:0080293 short-rib thoracic dysplasia 18 with polydactyly ISO RGD:1602079 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 18 with polydactyly PMID:25741868|PMID:28400947|PMID:28492532 12342139 IFT43 intraflagellar transport 43 gene DOID:0080805 cranioectodermal dysplasia 3 ISO RGD:1602079 D RGD:7240710 20180130 OMIM 12342139 IFT43 intraflagellar transport 43 gene DOID:0080805 cranioectodermal dysplasia 3 ISO RGD:1602079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 3 PMID:17576681|PMID:21378380|PMID:24027799|PMID:25741868|PMID:26489029|PMID:28400947|PMID:28492532|PMID:29896747|PMID:9536098 12342139 IFT43 intraflagellar transport 43 gene DOID:10283 prostate cancer ISO RGD:1602079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12342139 IFT43 intraflagellar transport 43 gene DOID:1059 intellectual disability ISO RGD:1602079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12342139 IFT43 intraflagellar transport 43 gene DOID:630 genetic disease ISO RGD:1602079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12342139 IFT43 intraflagellar transport 43 gene DOID:65 connective tissue disease ISO RGD:1602079 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:16199547|PMID:21378380|PMID:25741868|PMID:28400947|PMID:28492532 12342155 EVX1 even-skipped homeobox 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12342155 EVX1 even-skipped homeobox 1 gene DOID:630 genetic disease ISO RGD:1344299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342160 TAS2R41 taste 2 receptor member 41 gene DOID:630 genetic disease ISO RGD:1353850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342167 STOML3 stomatin like 3 gene DOID:630 genetic disease ISO RGD:1322361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342181 NOC4L nucleolar complex associated 4 homolog gene DOID:630 genetic disease ISO RGD:1604300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342181 NOC4L nucleolar complex associated 4 homolog gene DOID:9256 colorectal cancer ISO RGD:1604300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 12342201 SLC47A2 solute carrier family 47 member 2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1603576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12342201 SLC47A2 solute carrier family 47 member 2 gene DOID:12849 autistic disorder ISO RGD:1603576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12342201 SLC47A2 solute carrier family 47 member 2 gene DOID:630 genetic disease ISO RGD:1603576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342201 SLC47A2 solute carrier family 47 member 2 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1603576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 12342275 SRL sarcalumenin gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1315254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12342275 SRL sarcalumenin gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1315254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 12342275 SRL sarcalumenin gene DOID:1059 intellectual disability ISO RGD:1315254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12342275 SRL sarcalumenin gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1315254 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 12342275 SRL sarcalumenin gene DOID:1682 congenital heart disease ISO RGD:1315254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 12342275 SRL sarcalumenin gene DOID:1826 epilepsy ISO RGD:1315254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12342275 SRL sarcalumenin gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1315254 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12342275 SRL sarcalumenin gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1315254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:12114483|PMID:15706485|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12342275 SRL sarcalumenin gene DOID:630 genetic disease ISO RGD:1315254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342289 HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1605973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12342289 HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:0111077 pyruvate kinase deficiency of red cells ISO RGD:1605973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells 12342289 HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1605973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12342289 HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12342289 HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12342289 HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:14330 Parkinson's disease ISO RGD:620691 D RGD:9068941 20200609 RGD mRNA:increased expression:neuron: PMID:19320057|REF_RGD_ID:9693679 12342289 HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1605973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12342289 HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:5812 MHC class II deficiency ISO RGD:1605973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12342289 HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:630 genetic disease ISO RGD:1605973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342289 HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:9000930 Dental Pulp Exposure ISO RGD:620691 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:17645513|REF_RGD_ID:9686147 12342289 HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620691 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:19815055|REF_RGD_ID:9693680 12342289 HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12342310 HRH4 histamine receptor H4 gene DOID:0080600 COVID-19 ISO RGD:735405 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12342310 HRH4 histamine receptor H4 gene DOID:1059 intellectual disability ISO RGD:735405 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12342310 HRH4 histamine receptor H4 gene DOID:299 adenocarcinoma ISO RGD:735405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363581 12342310 HRH4 histamine receptor H4 gene DOID:630 genetic disease ISO RGD:735405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342310 HRH4 histamine receptor H4 gene DOID:9000217 Stomach Neoplasms ISO RGD:735405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363581 12342310 HRH4 histamine receptor H4 gene DOID:9006202 Pruritus ISO RGD:735405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19652466 12342317 C13H8orf76 chromosome 13 C8orf76 homolog gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1602854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12342317 C13H8orf76 chromosome 13 C8orf76 homolog gene DOID:630 genetic disease ISO RGD:1602854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342331 CHURC1 churchill domain containing 1 gene DOID:630 genetic disease ISO RGD:1312958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342339 MARCHF2 membrane associated ring-CH-type finger 2 gene DOID:0080490 mucolipidosis type IV ISO RGD:1351107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 12342339 MARCHF2 membrane associated ring-CH-type finger 2 gene DOID:12849 autistic disorder ISO RGD:1351107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12342349 PDCD7 programmed cell death 7 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1319039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12342349 PDCD7 programmed cell death 7 gene DOID:2717 Bloom syndrome ISO RGD:1319039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12342349 PDCD7 programmed cell death 7 gene DOID:630 genetic disease ISO RGD:1319039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342349 PDCD7 programmed cell death 7 gene DOID:9256 colorectal cancer ISO RGD:1319039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12342365 P3H3 prolyl 3-hydroxylase 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1313881 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12342365 P3H3 prolyl 3-hydroxylase 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1313881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12342365 P3H3 prolyl 3-hydroxylase 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1313881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12342365 P3H3 prolyl 3-hydroxylase 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1313881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12342365 P3H3 prolyl 3-hydroxylase 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1313881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12342365 P3H3 prolyl 3-hydroxylase 3 gene DOID:630 genetic disease ISO RGD:1313881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342365 P3H3 prolyl 3-hydroxylase 3 gene DOID:8398 osteoarthritis ISO RGD:1313881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12342365 P3H3 prolyl 3-hydroxylase 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1313881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12342386 ISG15 ISG15 ubiquitin like modifier gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1321144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12342386 ISG15 ISG15 ubiquitin like modifier gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1321144 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12342386 ISG15 ISG15 ubiquitin like modifier gene DOID:0080600 COVID-19 ISO RGD:1321144 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12342386 ISG15 ISG15 ubiquitin like modifier gene DOID:0110994 Joubert syndrome 25 ISO RGD:1321144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12342386 ISG15 ISG15 ubiquitin like modifier gene DOID:0111934 immunodeficiency 38 ISO RGD:1321144 D RGD:7240710 20180130 OMIM 12342386 ISG15 ISG15 ubiquitin like modifier gene DOID:0111934 immunodeficiency 38 ISO RGD:1321144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:17576681|PMID:19492091|PMID:21031596|PMID:22859821|PMID:24033266|PMID:25307056|PMID:25741868|PMID:26477546|PMID:28492532|PMID:31674007|PMID:32402279|PMID:9536098|PMID:9683594 12342386 ISG15 ISG15 ubiquitin like modifier gene DOID:0111935 immunodeficiency 16 ISO RGD:1321144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12342386 ISG15 ISG15 ubiquitin like modifier gene DOID:1470 major depressive disorder ISO RGD:1321144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29175309 12342386 ISG15 ISG15 ubiquitin like modifier gene DOID:630 genetic disease ISO RGD:1321144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12342386 ISG15 ISG15 ubiquitin like modifier gene DOID:684 hepatocellular carcinoma ISO RGD:1321144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28919514 12342386 ISG15 ISG15 ubiquitin like modifier gene DOID:9001488 Human Influenza ISO RGD:1321144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12342386 ISG15 ISG15 ubiquitin like modifier gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1321144 D RGD:9068941 20201106 RGD PMID:28036111|REF_RGD_ID:40400915 12342386 ISG15 ISG15 ubiquitin like modifier gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12342386 ISG15 ISG15 ubiquitin like modifier gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1310312 D RGD:9068941 20200609 RGD PMID:20973890|REF_RGD_ID:5490977 12342386 ISG15 ISG15 ubiquitin like modifier gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1321144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12342392 IFNAR2 interferon alpha and beta receptor subunit 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1346107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12342392 IFNAR2 interferon alpha and beta receptor subunit 2 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1346107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12342392 IFNAR2 interferon alpha and beta receptor subunit 2 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1346107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12342392 IFNAR2 interferon alpha and beta receptor subunit 2 gene DOID:0080600 COVID-19 ISO RGD:1346107 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:33307546 12342392 IFNAR2 interferon alpha and beta receptor subunit 2 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1346107 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:28492532 12342392 IFNAR2 interferon alpha and beta receptor subunit 2 gene DOID:0081013 severe COVID-19 ISO RGD:1346107 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 PMID:28492532 12342392 IFNAR2 interferon alpha and beta receptor subunit 2 gene DOID:0111975 immunodeficiency 44 ISO RGD:1346107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 44 PMID:25741868|PMID:26424569|PMID:28492532|PMID:33193576 12342392 IFNAR2 interferon alpha and beta receptor subunit 2 gene DOID:0111994 immunodeficiency 45 ISO RGD:1346107 D RGD:7240710 20230510 OMIM 12342392 IFNAR2 interferon alpha and beta receptor subunit 2 gene DOID:0111994 immunodeficiency 45 ISO RGD:1346107 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Immunodeficiency 45 PMID:16757563|PMID:17576681|PMID:25741868|PMID:26424569|PMID:28492532|PMID:33193576|PMID:35442417|PMID:9536098 12342392 IFNAR2 interferon alpha and beta receptor subunit 2 gene DOID:2043 hepatitis B ISO RGD:1346107 D RGD:7240710 20230510 OMIM 12342392 IFNAR2 interferon alpha and beta receptor subunit 2 gene DOID:2043 hepatitis B ISO RGD:1346107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HBV, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hepatitis B virus, susceptibility to PMID:16757563|PMID:25741868|PMID:28492532 12342392 IFNAR2 interferon alpha and beta receptor subunit 2 gene DOID:630 genetic disease ISO RGD:1346107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12342392 IFNAR2 interferon alpha and beta receptor subunit 2 gene DOID:9005698 ZTTK Syndrome ISO RGD:1346107 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 12342436 ZNF517 zinc finger protein 517 gene DOID:630 genetic disease ISO RGD:1346699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342484 COL4A6 collagen type IV alpha 6 chain gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1343037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 12342484 COL4A6 collagen type IV alpha 6 chain gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12342484 COL4A6 collagen type IV alpha 6 chain gene DOID:0110034 X-linked Alport syndrome ISO RGD:1343037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome 12342484 COL4A6 collagen type IV alpha 6 chain gene DOID:0111740 X-linked deafness 6 ISO RGD:1343037 D RGD:7240710 20180130 OMIM 12342484 COL4A6 collagen type IV alpha 6 chain gene DOID:0111740 X-linked deafness 6 ISO RGD:1343037 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Deafness, X-linked 6 PMID:23714752|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33840813 12342484 COL4A6 collagen type IV alpha 6 chain gene DOID:12849 autistic disorder ISO RGD:1343037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12342484 COL4A6 collagen type IV alpha 6 chain gene DOID:630 genetic disease ISO RGD:1343037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12342484 COL4A6 collagen type IV alpha 6 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:1343037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12342484 COL4A6 collagen type IV alpha 6 chain gene DOID:9005549 Epithelioid Leiomyoma ISO RGD:1343037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17069596 12342540 CANX calnexin gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:737068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 12342540 CANX calnexin gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:737068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12342540 CANX calnexin gene DOID:0112103 Sotos syndrome 1 ISO RGD:737068 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12342540 CANX calnexin gene DOID:630 genetic disease ISO RGD:737068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342540 CANX calnexin gene DOID:9007102 Myocardial Ischemia ISO RGD:737068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12342540 CANX calnexin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12342540 CANX calnexin gene DOID:9970 obesity ISO RGD:737068 D RGD:9068941 20200609 RGD protein:increased expression:subcutaneous adipose tissue PMID:18567819|REF_RGD_ID:2314284 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25741868|PMID:28492532 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:0050700 cardiomyopathy ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25016126|PMID:25741868|PMID:28492532 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:0060224 atrial fibrillation ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:23861362|PMID:25741868|PMID:28492532 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:0060319 cardiac arrest ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:23861362|PMID:25741868|PMID:28492532 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:0060669 cerebral cavernous malformation ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:0110218 Brugada syndrome 1 ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:23861362|PMID:25741868|PMID:28492532 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:0110644 long QT syndrome 1 ISO RGD:1349720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:24033266|PMID:24123366|PMID:25467552|PMID:25649125|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26743238|PMID:28074886|PMID:28492532|PMID:28750076|PMID:29574703|PMID:30276209|PMID:30471092|PMID:30847666|PMID:34088380 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:0110645 long QT syndrome 2 ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:23861362|PMID:28492532 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:0110652 long QT syndrome 11 ISO RGD:1349720 D RGD:7240710 20180130 OMIM 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:0110652 long QT syndrome 11 ISO RGD:1349720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:17576681|PMID:18093912|PMID:22378279|PMID:23174487|PMID:23861362|PMID:24033266|PMID:24467814|PMID:25172201|PMID:25363768|PMID:25467552|PMID:25649125|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26350513|PMID:26704558|PMID:27707468|PMID:28074886|PMID:28341588|PMID:28492532|PMID:28666525|PMID:28714951|PMID:28750076|PMID:28986455|PMID:29247119|PMID:29350269|PMID:29574703|PMID:29641532|PMID:30276209|PMID:30471092|PMID:30615648|PMID:30847666|PMID:31418098|PMID:31534214|PMID:31785789|PMID:31847883|PMID:33084842|PMID:33789662|PMID:34011629|PMID:9536098 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:12930 dilated cardiomyopathy ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:2843 long QT syndrome ISO RGD:1349720 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:16199547|PMID:17576681|PMID:18093912|PMID:23861362|PMID:24033266|PMID:24123366|PMID:25172201|PMID:25363768|PMID:25467552|PMID:25649125|PMID:25661095|PMID:25741868|PMID:26132555|PMID:26159999|PMID:26230511|PMID:26580448|PMID:26671970|PMID:26704558|PMID:26743238|PMID:27707468|PMID:28074886|PMID:28166811|PMID:28341588|PMID:28492532|PMID:28666525|PMID:28714951|PMID:28750076|PMID:29247119|PMID:29574703|PMID:30276209|PMID:30821013|PMID:30847666|PMID:31534214|PMID:32233023|PMID:33084842|PMID:9536098 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:2843 long QT syndrome ISO RGD:1349720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:16199547|PMID:17576681|PMID:18093912|PMID:22378279|PMID:22584458|PMID:23174487|PMID:23861362|PMID:24033266|PMID:24123366|PMID:24467814|PMID:24981977|PMID:25016126|PMID:25172201|PMID:25363768|PMID:25467552|PMID:25649125|PMID:25661095|PMID:25741868|PMID:26132555|PMID:26159999|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26350513|PMID:26580448|PMID:26671970|PMID:26704558|PMID:26743238|PMID:27332903|PMID:27707468|PMID:28003625|PMID:28074886|PMID:28341588|PMID:28492532|PMID:28666525|PMID:28714951|PMID:28750076|PMID:28986455|PMID:29181379|PMID:29247119|PMID:29350269|PMID:29511324|PMID:29574703|PMID:29641532|PMID:29688227|PMID:30276209|PMID:30471092|PMID:30615648|PMID:30821013|PMID:30847666|PMID:30975432|PMID:31418098|PMID:31534214|PMID:31654968|PMID:31847883|PMID:32233023|PMID:33084842|PMID:33232181|PMID:33789662|PMID:34011629|PMID:34088380|PMID:9536098 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:2843 long QT syndrome ISO RGD:1349720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:16199547|PMID:17576681|PMID:18093912|PMID:22378279|PMID:22584458|PMID:23174487|PMID:23861362|PMID:24033266|PMID:24123366|PMID:24467814|PMID:24981977|PMID:25016126|PMID:25172201|PMID:25363768|PMID:25467552|PMID:25649125|PMID:25661095|PMID:25741868|PMID:26132555|PMID:26159999|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26350513|PMID:26580448|PMID:26671970|PMID:26704558|PMID:26743238|PMID:27332903|PMID:27707468|PMID:28003625|PMID:28074886|PMID:28341588|PMID:28492532|PMID:28666525|PMID:28714951|PMID:28750076|PMID:28986455|PMID:29181379|PMID:29247119|PMID:29350269|PMID:29511324|PMID:29574703|PMID:29641532|PMID:29688227|PMID:30276209|PMID:30471092|PMID:30615648|PMID:30821013|PMID:30847666|PMID:30975432|PMID:31418098|PMID:31534214|PMID:31654968|PMID:31785789|PMID:31847883|PMID:32233023|PMID:33084842|PMID:33232181|PMID:33789662|PMID:34011629|PMID:34088380|PMID:9536098 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:37 skin disease ISO RGD:1349720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1349720 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:22584458|PMID:28492532|PMID:32233023 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:397 restrictive cardiomyopathy ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:25741868|PMID:28492532 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:6000 congestive heart failure ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart failure PMID:23861362|PMID:25741868|PMID:28492532 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:630 genetic disease ISO RGD:1349720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:28492532 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:23861362|PMID:25741868|PMID:28074886|PMID:28492532|PMID:28750076|PMID:29574703 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:24033266|PMID:24123366|PMID:25467552|PMID:25649125|PMID:25741868|PMID:26743238|PMID:28074886|PMID:28492532|PMID:28750076|PMID:29574703|PMID:30276209 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1349720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:24033266|PMID:24123366|PMID:25467552|PMID:25649125|PMID:25741868|PMID:26159999|PMID:26743238|PMID:28074886|PMID:28492532|PMID:28750076|PMID:29574703|PMID:30276209|PMID:30471092|PMID:30847666|PMID:34088380 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:23861362|PMID:25741868|PMID:28492532 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:9007964 Arsenic Poisoning ISO RGD:1349720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:9120 amyloidosis ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidosis PMID:23861362|PMID:25741868|PMID:28492532 12342559 AKAP9 A-kinase anchoring protein 9 gene DOID:9256 colorectal cancer ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12342630 TMEM9B TMEM9 domain family member B gene DOID:630 genetic disease ISO RGD:1321873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342642 ACAA1 acetyl-CoA acyltransferase 1 gene DOID:0050451 Brugada syndrome ISO RGD:69012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 12342642 ACAA1 acetyl-CoA acyltransferase 1 gene DOID:6000 congestive heart failure ISO RGD:1621308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 12342642 ACAA1 acetyl-CoA acyltransferase 1 gene DOID:630 genetic disease ISO RGD:69012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342642 ACAA1 acetyl-CoA acyltransferase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:67379 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:17632588|REF_RGD_ID:2313044 12342642 ACAA1 acetyl-CoA acyltransferase 1 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:69012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 12342662 TPCN1 two pore segment channel 1 gene DOID:14228 oligospermia ISO RGD:1344084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24451262 12342662 TPCN1 two pore segment channel 1 gene DOID:630 genetic disease ISO RGD:1344084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342697 ADCY6 adenylate cyclase 6 gene DOID:5199 ureteral obstruction ISO RGD:2035 D RGD:9068941 20200609 RGD PMID:18971210|REF_RGD_ID:2312654 12342697 ADCY6 adenylate cyclase 6 gene DOID:630 genetic disease ISO RGD:735837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12342697 ADCY6 adenylate cyclase 6 gene DOID:9002593 Lethal Congenital Contracture Syndrome 8 ISO RGD:735837 D RGD:7240710 20180130 OMIM 12342697 ADCY6 adenylate cyclase 6 gene DOID:9002593 Lethal Congenital Contracture Syndrome 8 ISO RGD:735837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8 PMID:23806086|PMID:24088041|PMID:24319099|PMID:25741868|PMID:26257172|PMID:31846058 12342722 MDM4 MDM4 regulator of p53 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1319584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12342722 MDM4 MDM4 regulator of p53 gene DOID:10316 pneumoconiosis ISO RGD:1319584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 12342722 MDM4 MDM4 regulator of p53 gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:1319584 D RGD:9068941 20200609 RGD PMID:23861893|REF_RGD_ID:10047419 12342722 MDM4 MDM4 regulator of p53 gene DOID:12849 autistic disorder ISO RGD:1319584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12342722 MDM4 MDM4 regulator of p53 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319585 D RGD:9068941 20220825 MouseDO 12342722 MDM4 MDM4 regulator of p53 gene DOID:1540 parathyroid carcinoma ISO RGD:1319584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12342722 MDM4 MDM4 regulator of p53 gene DOID:3068 glioblastoma ISO RGD:1319584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20472715 12342722 MDM4 MDM4 regulator of p53 gene DOID:630 genetic disease ISO RGD:1319584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342722 MDM4 MDM4 regulator of p53 gene DOID:9003643 Bone Marrow Failure Syndrome 6 ISO RGD:1319584 D RGD:7240710 20200429 OMIM 12342722 MDM4 MDM4 regulator of p53 gene DOID:9003643 Bone Marrow Failure Syndrome 6 ISO RGD:1319584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone marrow failure syndrome 6 PMID:25741868|PMID:32300648 12342722 MDM4 MDM4 regulator of p53 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1319584 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12342722 MDM4 MDM4 regulator of p53 gene DOID:9008939 Breast Neoplasms ISO RGD:1319584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23535733 12342722 MDM4 MDM4 regulator of p53 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:0050452 mevalonic aciduria ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12477733 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:0080000 muscular disease ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23953224 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:0080000 muscular disease ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:21360500|REF_RGD_ID:5508448 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:2803 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:2803 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:19913842|REF_RGD_ID:5508690 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:0080208 non-alcoholic fatty liver disease disease_progression ISO RGD:2803 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:23117815|REF_RGD_ID:15045604 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:10652 Alzheimer's disease ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:17724290|REF_RGD_ID:5508460 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:10787 premature menopause ISO RGD:2803 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:24619822|PMID:25263431|REF_RGD_ID:15045610|REF_RGD_ID:19165129 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:11100 Q fever ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16469060 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:12858 Huntington's disease ISO RGD:731580 D RGD:9068941 20200609 RGD PMID:17702587|REF_RGD_ID:5508462 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:1307 dementia ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:17640385|REF_RGD_ID:5508465 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:13141 uveitis ISO RGD:731580 D RGD:9068941 20200609 RGD PMID:15699169|REF_RGD_ID:5508475 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:14330 Parkinson's disease ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:18184918|REF_RGD_ID:5508459 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:2044 drug-induced hepatitis ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:16140414|REF_RGD_ID:2316848 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:2841 asthma ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:20084838|REF_RGD_ID:5508450 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:3021 acute kidney failure ISO RGD:731580 D RGD:9068941 20200609 RGD associated with Sepsis PMID:16557230|REF_RGD_ID:5508471 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:3323 Sandhoff disease ISO RGD:731579 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:3393 coronary artery disease ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:12742282|REF_RGD_ID:5508477 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:417 autoimmune disease ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23953224 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:630 genetic disease ISO RGD:731579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:6432 pulmonary hypertension ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:12750068|REF_RGD_ID:5508701 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:684 hepatocellular carcinoma ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110|PMID:9207284 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:783 end stage renal disease ISO RGD:2803 D RGD:9068941 20200609 RGD associated with Hypertension PMID:21119529|REF_RGD_ID:5508686 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:783 end stage renal disease ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:784 chronic kidney disease ISO RGD:2803 D RGD:9068941 20210514 RGD mRNA, protein:increased expression:liver PMID:12841361|REF_RGD_ID:1300058 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:8805 intermediate coronary syndrome ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:18333374|REF_RGD_ID:5508458 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:893 Wilson disease ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:17303181|REF_RGD_ID:2292672 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9000528 Coronary Disease disease_progression ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:15809366|REF_RGD_ID:5508474 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9000808 Hypercholesterolemia ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:17250646|REF_RGD_ID:5508696 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9000808 Hypercholesterolemia ISO RGD:2803 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:24619822|REF_RGD_ID:19165129 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9000808 Hypercholesterolemia ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8593127 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9000808 Hypercholesterolemia ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:1611649|REF_RGD_ID:5508480 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9000808 Hypercholesterolemia ISO RGD:731580 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:25168180|REF_RGD_ID:13782271 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9000998 Brain Injuries ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:18562561|REF_RGD_ID:5508455 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9002457 Experimental Arthritis ISO RGD:731580 D RGD:9068941 20200609 RGD PMID:17119970|REF_RGD_ID:5508468 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:14691063|REF_RGD_ID:5508476 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:731580 D RGD:9068941 20200609 RGD PMID:17085013|REF_RGD_ID:5508469 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9004009 Reperfusion Injury ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:21724106|REF_RGD_ID:5508445 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9004009 Reperfusion Injury ISO RGD:2803 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18398369|REF_RGD_ID:2315888 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9004009 Reperfusion Injury ISO RGD:731580 D RGD:9068941 20200609 RGD PMID:16009498|REF_RGD_ID:5508473 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9004610 Acute Lung Injury ISO RGD:731580 D RGD:9068941 20200609 RGD PMID:16922808|REF_RGD_ID:5508470 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9005036 Bacteremia severity ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:11565076|REF_RGD_ID:5508478 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12477733 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:15111316|REF_RGD_ID:2313760 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9006113 Gallstones ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7461467 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9006646 Metabolic Syndrome ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:19461650|REF_RGD_ID:5508692 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9006647 Experimental Autoimmune Neuritis disease_progression ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:17286627|REF_RGD_ID:5508466 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9007096 Stroke ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:16316970|REF_RGD_ID:5508472 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9007096 Stroke ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:16316970|REF_RGD_ID:5508472 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9009046 Surgical Wound Dehiscence ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:19578821|REF_RGD_ID:5508683 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9351 diabetes mellitus ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:15476492|REF_RGD_ID:2313755 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9352 type 2 diabetes mellitus ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:15312879|REF_RGD_ID:2313759 12342750 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9352 type 2 diabetes mellitus ISO RGD:731579 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:17870053|REF_RGD_ID:2313753 12342774 GABARAPL2 GABA type A receptor associated protein like 2 gene DOID:0110989 Joubert syndrome 20 ISO RGD:735450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 20 PMID:23012439|PMID:23349226|PMID:28492532 12342774 GABARAPL2 GABA type A receptor associated protein like 2 gene DOID:630 genetic disease ISO RGD:735450 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342782 SIX2 SIX homeobox 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1321897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12342782 SIX2 SIX homeobox 2 gene DOID:0080205 CAKUT ISO RGD:1321897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:27657687|PMID:28492532|PMID:32164334 12342782 SIX2 SIX homeobox 2 gene DOID:0081044 frontonasal dysplasia ISO RGD:1321897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18570229 12342782 SIX2 SIX homeobox 2 gene DOID:0110872 holoprosencephaly 2 ISO RGD:1321897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 2 PMID:28492532|PMID:32796691 12342782 SIX2 SIX homeobox 2 gene DOID:2154 nephroblastoma ISO RGD:1321897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 12342782 SIX2 SIX homeobox 2 gene DOID:3883 Lynch syndrome ISO RGD:1321897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12342782 SIX2 SIX homeobox 2 gene DOID:5176 renal Wilms' tumor ISO RGD:1321897 D RGD:9068941 20221103 RGD human tumor in mouse model PMID:18467665|REF_RGD_ID:155631277 12342782 SIX2 SIX homeobox 2 gene DOID:557 kidney disease ISO RGD:1321897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18570229 12342782 SIX2 SIX homeobox 2 gene DOID:630 genetic disease ISO RGD:1321897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12342782 SIX2 SIX homeobox 2 gene DOID:674 cleft palate ISO RGD:1321898 D RGD:9068941 20221124 MouseDO 12342782 SIX2 SIX homeobox 2 gene DOID:784 chronic kidney disease treatment ISO RGD:1321897 D RGD:9068941 20221103 RGD human cells in rat model PMID:33298161|REF_RGD_ID:155631310 12342782 SIX2 SIX homeobox 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1321898 D RGD:9068941 20221103 RGD mRNA:altered expression:kidney (mouse) PMID:18467665|REF_RGD_ID:155631277 12342790 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1321433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 12342790 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:0080600 COVID-19 ISO RGD:1321433 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12342790 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1321433 D RGD:7240710 20180130 OMIM 12342790 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1321433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:10417273|PMID:15373769|PMID:15389701|PMID:16199547|PMID:1642226|PMID:16770806|PMID:17090394|PMID:17576681|PMID:18973246|PMID:21567906|PMID:22863189|PMID:23495203|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25640679|PMID:25741868|PMID:26765342|PMID:28128410|PMID:28346524|PMID:28492532|PMID:29843651|PMID:33389145|PMID:7735500|PMID:8215497|PMID:8986271|PMID:9536098 12342790 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1321433 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12342790 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1321433 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:22863189|PMID:25741868|PMID:28346524|PMID:28492532|PMID:29843651 12342790 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:13359 Ehlers-Danlos syndrome susceptibility ISO RGD:1321433 D RGD:9068941 20200609 RGD PMID:10417273|REF_RGD_ID:1598739 12342790 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:1790 malignant mesothelioma ISO RGD:1321433 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26139392 12342790 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:630 genetic disease ISO RGD:1321433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12342790 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:9007096 Stroke susceptibility ISO RGD:1321433 D RGD:9068941 20200609 RGD DNA:SNP::rs469568(human) PMID:22990015|REF_RGD_ID:9681739 12342816 FBXO10 F-box protein 10 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1313507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12342816 FBXO10 F-box protein 10 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1313507 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12342816 FBXO10 F-box protein 10 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1313507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12342816 FBXO10 F-box protein 10 gene DOID:630 genetic disease ISO RGD:1313507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342816 FBXO10 F-box protein 10 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1305465 D RGD:9068941 20200609 RGD PMID:17404222|REF_RGD_ID:1601189 12342816 FBXO10 F-box protein 10 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12342816 FBXO10 F-box protein 10 gene DOID:9870 galactosemia ISO RGD:1313507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12342832 THRAP3 thyroid hormone receptor associated protein 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1314565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12342832 THRAP3 thyroid hormone receptor associated protein 3 gene DOID:630 genetic disease ISO RGD:1314565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342852 DPYSL5 dihydropyrimidinase like 5 gene DOID:0060041 autism spectrum disorder ISO RGD:733917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12342852 DPYSL5 dihydropyrimidinase like 5 gene DOID:0060571 Ritscher-Schinzel syndrome 1 ISO RGD:733917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 PMID:31474318|PMID:33894126|PMID:3812597 12342852 DPYSL5 dihydropyrimidinase like 5 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:733917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12342852 DPYSL5 dihydropyrimidinase like 5 gene DOID:2785 Dandy-Walker syndrome ISO RGD:733917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:31474318|PMID:33894126|PMID:3812597 12342852 DPYSL5 dihydropyrimidinase like 5 gene DOID:630 genetic disease ISO RGD:733917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342852 DPYSL5 dihydropyrimidinase like 5 gene DOID:9007567 Ritscher-Schinzel Syndrome 4 ISO RGD:733917 D RGD:7240710 20210728 OMIM 12342852 DPYSL5 dihydropyrimidinase like 5 gene DOID:9007567 Ritscher-Schinzel Syndrome 4 ISO RGD:733917 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 4 PMID:25741868|PMID:31474318|PMID:33894126|PMID:3812597 12342875 CUX2 cut like homeobox 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1314310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12342875 CUX2 cut like homeobox 2 gene DOID:0111455 GRACILE syndrome ISO RGD:1314310 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GRACILE syndrome PMID:25741868 12342875 CUX2 cut like homeobox 2 gene DOID:0112203 developmental and epileptic encephalopathy 67 ISO RGD:1314310 D RGD:7240710 20190315 OMIM 12342875 CUX2 cut like homeobox 2 gene DOID:0112203 developmental and epileptic encephalopathy 67 ISO RGD:1314310 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 67 PMID:20404132|PMID:23020937|PMID:25741868|PMID:28492532|PMID:28628100|PMID:29630738|PMID:29795476 12342875 CUX2 cut like homeobox 2 gene DOID:1059 intellectual disability ISO RGD:1314310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12342875 CUX2 cut like homeobox 2 gene DOID:2224 essential thrombocythemia ISO RGD:1314310 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 PMID:20404132|PMID:25741868 12342875 CUX2 cut like homeobox 2 gene DOID:4971 myelofibrosis ISO RGD:1314310 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis PMID:20404132|PMID:25741868 12342875 CUX2 cut like homeobox 2 gene DOID:630 genetic disease ISO RGD:1314310 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12342875 CUX2 cut like homeobox 2 gene DOID:687 hepatoblastoma ISO RGD:1314310 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:20404132|PMID:25741868 12342875 CUX2 cut like homeobox 2 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1314310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures 12342908 KLHL22 kelch like family member 22 gene DOID:0060041 autism spectrum disorder ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12342908 KLHL22 kelch like family member 22 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1602999 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12342908 KLHL22 kelch like family member 22 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1602999 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12342908 KLHL22 kelch like family member 22 gene DOID:1059 intellectual disability ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12342908 KLHL22 kelch like family member 22 gene DOID:11198 DiGeorge syndrome ISO RGD:1602999 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12342908 KLHL22 kelch like family member 22 gene DOID:11372 megacolon ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12342908 KLHL22 kelch like family member 22 gene DOID:12583 velocardiofacial syndrome ISO RGD:1602999 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12342908 KLHL22 kelch like family member 22 gene DOID:12849 autistic disorder ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12342908 KLHL22 kelch like family member 22 gene DOID:1826 epilepsy ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12342908 KLHL22 kelch like family member 22 gene DOID:2213 hemorrhagic disease ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 12342908 KLHL22 kelch like family member 22 gene DOID:5419 schizophrenia ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12342908 KLHL22 kelch like family member 22 gene DOID:612 primary immunodeficiency disease ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12342908 KLHL22 kelch like family member 22 gene DOID:630 genetic disease ISO RGD:1602999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342908 KLHL22 kelch like family member 22 gene DOID:9003871 Venous Thrombosis ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 12342908 KLHL22 kelch like family member 22 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12342908 KLHL22 kelch like family member 22 gene DOID:9007661 Dwarfism ISO RGD:1602999 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12342918 PRTG protogenin gene DOID:12849 autistic disorder ISO RGD:1606409 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 12342918 PRTG protogenin gene DOID:2717 Bloom syndrome ISO RGD:1606409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12342918 PRTG protogenin gene DOID:630 genetic disease ISO RGD:1606409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342918 PRTG protogenin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12342918 PRTG protogenin gene DOID:9256 colorectal cancer ISO RGD:1606409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12342941 KCTD13 potassium channel tetramerization domain containing 13 gene DOID:0060019 coronin-1A deficiency ISO RGD:1345683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12342941 KCTD13 potassium channel tetramerization domain containing 13 gene DOID:0060041 autism spectrum disorder ISO RGD:1345683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12342941 KCTD13 potassium channel tetramerization domain containing 13 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1345683 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12342941 KCTD13 potassium channel tetramerization domain containing 13 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1345683 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12342941 KCTD13 potassium channel tetramerization domain containing 13 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1345683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12342941 KCTD13 potassium channel tetramerization domain containing 13 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1345683 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12342941 KCTD13 potassium channel tetramerization domain containing 13 gene DOID:12849 autistic disorder ISO RGD:1345683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12342941 KCTD13 potassium channel tetramerization domain containing 13 gene DOID:1882 atrial heart septal defect ISO RGD:1345683 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12342941 KCTD13 potassium channel tetramerization domain containing 13 gene DOID:5419 schizophrenia ISO RGD:1345683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12342941 KCTD13 potassium channel tetramerization domain containing 13 gene DOID:630 genetic disease ISO RGD:1345683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342941 KCTD13 potassium channel tetramerization domain containing 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12342941 KCTD13 potassium channel tetramerization domain containing 13 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1345683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12342941 KCTD13 potassium channel tetramerization domain containing 13 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1345683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12342951 SUV39H1 SUV39H1 histone lysine methyltransferase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12342951 SUV39H1 SUV39H1 histone lysine methyltransferase gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1348120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12342951 SUV39H1 SUV39H1 histone lysine methyltransferase gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1348120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12342951 SUV39H1 SUV39H1 histone lysine methyltransferase gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1348120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12342951 SUV39H1 SUV39H1 histone lysine methyltransferase gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1348120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12342951 SUV39H1 SUV39H1 histone lysine methyltransferase gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1348120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12342951 SUV39H1 SUV39H1 histone lysine methyltransferase gene DOID:12849 autistic disorder ISO RGD:1348120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12342951 SUV39H1 SUV39H1 histone lysine methyltransferase gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1348120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16783379|PMID:22706301|PMID:23704091|PMID:24453067|PMID:28492532 12342951 SUV39H1 SUV39H1 histone lysine methyltransferase gene DOID:3070 high grade glioma ISO RGD:1348120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12342951 SUV39H1 SUV39H1 histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1348120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342951 SUV39H1 SUV39H1 histone lysine methyltransferase gene DOID:9004203 Chromosome Breakage ISO RGD:1348120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29391238 12342951 SUV39H1 SUV39H1 histone lysine methyltransferase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1348120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29391238 12342968 SLA Src like adaptor gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1351693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:12872253|PMID:23996628|PMID:28492532 12342968 SLA Src like adaptor gene DOID:0112187 thyroid dyshormonogenesis 3 ISO RGD:1351693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 PMID:25741868|PMID:28492532 12342968 SLA Src like adaptor gene DOID:12306 vitiligo ISO RGD:1351693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 12342968 SLA Src like adaptor gene DOID:14264 benign neonatal seizures ISO RGD:1351693 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 12342968 SLA Src like adaptor gene DOID:630 genetic disease ISO RGD:1351693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12342968 SLA Src like adaptor gene DOID:7188 autoimmune thyroiditis ISO RGD:1351693 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 PMID:25741868 12342968 SLA Src like adaptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12342992 EPB42 erythrocyte membrane protein band 4.2 gene DOID:0110916 hereditary spherocytosis type 1 ISO RGD:1313259 D RGD:9068941 20220825 MouseDO OMIM:182900 12342992 EPB42 erythrocyte membrane protein band 4.2 gene DOID:0110920 hereditary spherocytosis type 5 ISO RGD:1313258 D RGD:7240710 20180130 OMIM 12342992 EPB42 erythrocyte membrane protein band 4.2 gene DOID:0110920 hereditary spherocytosis type 5 ISO RGD:1313258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis type 5 PMID:10406914|PMID:12176912|PMID:1558976|PMID:19508687|PMID:2386772|PMID:25741868|PMID:28492532|PMID:7772513|PMID:7803799|PMID:8319790|PMID:8528207|PMID:8547071 12342992 EPB42 erythrocyte membrane protein band 4.2 gene DOID:12971 hereditary spherocytosis ISO RGD:1313258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spherocytosis, Recessive 12342992 EPB42 erythrocyte membrane protein band 4.2 gene DOID:2717 Bloom syndrome ISO RGD:1313258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12342992 EPB42 erythrocyte membrane protein band 4.2 gene DOID:630 genetic disease ISO RGD:1313258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12342992 EPB42 erythrocyte membrane protein band 4.2 gene DOID:9256 colorectal cancer ISO RGD:1313258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12343019 CDC42SE2 CDC42 small effector 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343863 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12343019 CDC42SE2 CDC42 small effector 2 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1343863 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 12343019 CDC42SE2 CDC42 small effector 2 gene DOID:630 genetic disease ISO RGD:1343863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343019 CDC42SE2 CDC42 small effector 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12343019 CDC42SE2 CDC42 small effector 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343863 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12343034 KLRD1 killer cell lectin like receptor D1 gene DOID:630 genetic disease ISO RGD:735531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343050 RIIAD1 regulatory subunit of type II PKA R-subunit domain containing 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:2302530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12343050 RIIAD1 regulatory subunit of type II PKA R-subunit domain containing 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:2302530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12343050 RIIAD1 regulatory subunit of type II PKA R-subunit domain containing 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:2302530 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12343050 RIIAD1 regulatory subunit of type II PKA R-subunit domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:2302530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12343050 RIIAD1 regulatory subunit of type II PKA R-subunit domain containing 1 gene DOID:5812 MHC class II deficiency ISO RGD:2302530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12343050 RIIAD1 regulatory subunit of type II PKA R-subunit domain containing 1 gene DOID:630 genetic disease ISO RGD:2302530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343050 RIIAD1 regulatory subunit of type II PKA R-subunit domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:2302530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12343057 C27H12orf71 chromosome 27 C12orf71 homolog gene DOID:630 genetic disease ISO RGD:2302460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343088 LOC100855634 hemoglobin subunit zeta-like gene DOID:1099 alpha thalassemia ISO RGD:1316709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: alpha Thalassemia PMID:10602170|PMID:11017952|PMID:24025420|PMID:2566576|PMID:26114741|PMID:28791910|PMID:2986746|PMID:3191033|PMID:8460633|PMID:9099846 12343088 LOC100855634 hemoglobin subunit zeta-like gene DOID:630 genetic disease ISO RGD:1316709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343094 LOC100856583 ADP-ribosylation factor-like protein 6-interacting protein 1 gene DOID:0110812 hereditary spastic paraplegia 61 ISO RGD:1345801 D RGD:7240710 20180130 OMIM 12343094 LOC100856583 ADP-ribosylation factor-like protein 6-interacting protein 1 gene DOID:0110812 hereditary spastic paraplegia 61 ISO RGD:1345801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 61 PMID:16199547|PMID:17576681|PMID:24482476|PMID:27848944|PMID:28471035|PMID:28492532|PMID:9536098 12343094 LOC100856583 ADP-ribosylation factor-like protein 6-interacting protein 1 gene DOID:630 genetic disease ISO RGD:1345801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12343094 LOC100856583 ADP-ribosylation factor-like protein 6-interacting protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12343099 MIR544 microRNA mir-544 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1606047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 12343099 MIR544 microRNA mir-544 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:2314093 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 12343136 CCDC62 coiled-coil domain containing 62 gene DOID:630 genetic disease ISO RGD:1603292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343136 CCDC62 coiled-coil domain containing 62 gene DOID:9001970 Spermatogenic Failure 67 ISO RGD:1603292 D RGD:7240710 20220406 OMIM 12343136 CCDC62 coiled-coil domain containing 62 gene DOID:9001970 Spermatogenic Failure 67 ISO RGD:1603292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 67 PMID:31985809 12343186 C31H21orf58 chromosome 31 C21orf58 homolog gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1351432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12343186 C31H21orf58 chromosome 31 C21orf58 homolog gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1351432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 12343186 C31H21orf58 chromosome 31 C21orf58 homolog gene DOID:0110266 cataract 9 multiple types ISO RGD:1351432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12343186 C31H21orf58 chromosome 31 C21orf58 homolog gene DOID:12849 autistic disorder ISO RGD:1351432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12343186 C31H21orf58 chromosome 31 C21orf58 homolog gene DOID:630 genetic disease ISO RGD:1351432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343186 C31H21orf58 chromosome 31 C21orf58 homolog gene DOID:891 progressive myoclonus epilepsy ISO RGD:1351432 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12343186 C31H21orf58 chromosome 31 C21orf58 homolog gene DOID:9263 homocystinuria ISO RGD:1351432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12343186 C31H21orf58 chromosome 31 C21orf58 homolog gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12343223 XPOT exportin for tRNA gene DOID:630 genetic disease ISO RGD:1313662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343260 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1320359 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12343260 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1320359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 12343260 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:0112097 nuclear type mitochondrial complex I deficiency 33 ISO RGD:1320359 D RGD:7240710 20190315 OMIM 12343260 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:0112097 nuclear type mitochondrial complex I deficiency 33 ISO RGD:1320359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 PMID:25741868|PMID:28492532|PMID:30245030|PMID:30847515 12343260 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:1059 intellectual disability ISO RGD:1320359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12343260 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:10652 Alzheimer's disease ISO RGD:1320359 D RGD:9068941 20200609 RGD mRNA:increased expression:blood PMID:26943237|REF_RGD_ID:11572212 12343260 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:630 genetic disease ISO RGD:1320359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:30245030|PMID:30847515 12343260 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:700 mitochondrial metabolism disease ISO RGD:1320359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:30245030|PMID:30847515 12343260 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1320359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 12343267 RBM39 RNA binding motif protein 39 gene DOID:630 genetic disease ISO RGD:1320763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343294 EXD1 exonuclease 3'-5' domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1605271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12343294 EXD1 exonuclease 3'-5' domain containing 1 gene DOID:630 genetic disease ISO RGD:1605271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343294 EXD1 exonuclease 3'-5' domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1605271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12343330 MORC1 MORC family CW-type zinc finger 1 gene DOID:11372 megacolon ISO RGD:1321422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12343330 MORC1 MORC family CW-type zinc finger 1 gene DOID:1595 melancholic depression ISO RGD:1620107 D RGD:9068941 20220825 MouseDO OMIM:608516 12343330 MORC1 MORC family CW-type zinc finger 1 gene DOID:630 genetic disease ISO RGD:1321422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343359 USP36 ubiquitin specific peptidase 36 gene DOID:630 genetic disease ISO RGD:1320548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12343391 GPR31 G protein-coupled receptor 31 gene DOID:630 genetic disease ISO RGD:1313066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343396 ZFP36 ZFP36 ring finger protein gene DOID:0080600 COVID-19 ISO RGD:737182 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12343396 ZFP36 ZFP36 ring finger protein gene DOID:0080600 COVID-19 ISO RGD:737182 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12343396 ZFP36 ZFP36 ring finger protein gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:737182 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12343396 ZFP36 ZFP36 ring finger protein gene DOID:1612 breast cancer disease_progression ISO RGD:737182 D RGD:9068941 20220818 RGD mRNA:decreased expression:breast (human) PMID:32248342|REF_RGD_ID:153344515 12343396 ZFP36 ZFP36 ring finger protein gene DOID:2723 dermatitis ISO RGD:737182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15944294 12343396 ZFP36 ZFP36 ring finger protein gene DOID:630 genetic disease ISO RGD:737182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343396 ZFP36 ZFP36 ring finger protein gene DOID:684 hepatocellular carcinoma ISO RGD:737182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12343396 ZFP36 ZFP36 ring finger protein gene DOID:7148 rheumatoid arthritis ISO RGD:737183 D RGD:9068941 20220825 MouseDO OMIM:180300 12343396 ZFP36 ZFP36 ring finger protein gene DOID:848 arthritis ISO RGD:737182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15944294 12343396 ZFP36 ZFP36 ring finger protein gene DOID:9002221 Hyperplasia ISO RGD:737182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15944294 12343396 ZFP36 ZFP36 ring finger protein gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737182 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25556371 12343396 ZFP36 ZFP36 ring finger protein gene DOID:9005372 Inflammation ISO RGD:737182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12756304 12343396 ZFP36 ZFP36 ring finger protein gene DOID:9006827 Lung Reperfusion Injury exacerbates ISO RGD:737183 D RGD:9068941 20220915 RGD PMID:34238924|REF_RGD_ID:153350155 12343396 ZFP36 ZFP36 ring finger protein gene DOID:9007102 Myocardial Ischemia ISO RGD:737182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12343396 ZFP36 ZFP36 ring finger protein gene DOID:9007346 Cachexia ISO RGD:737182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12756304|PMID:15944294 12343396 ZFP36 ZFP36 ring finger protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:737182 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12343396 ZFP36 ZFP36 ring finger protein gene DOID:987 alopecia ISO RGD:737182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15944294 12343402 NR2C2 nuclear receptor subfamily 2 group C member 2 gene DOID:0060417 3p deletion syndrome ISO RGD:1353162 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12343402 NR2C2 nuclear receptor subfamily 2 group C member 2 gene DOID:289 endometriosis ISO RGD:1353162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12343402 NR2C2 nuclear receptor subfamily 2 group C member 2 gene DOID:630 genetic disease ISO RGD:1353162 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343402 NR2C2 nuclear receptor subfamily 2 group C member 2 gene DOID:9000596 Isolated Noncompaction of the Ventricular Myocardium ISO RGD:735810 D RGD:9068941 20200609 RGD PMID:21221781|REF_RGD_ID:7775017 12343433 VPREB1 V-set pre-B cell surrogate light chain 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1347336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 12343433 VPREB1 V-set pre-B cell surrogate light chain 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1347336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 12343433 VPREB1 V-set pre-B cell surrogate light chain 1 gene DOID:630 genetic disease ISO RGD:1347336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343433 VPREB1 V-set pre-B cell surrogate light chain 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1347336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26214592 12343438 RTP2 receptor transporter protein 2 gene DOID:5419 schizophrenia ISO RGD:1606102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12343438 RTP2 receptor transporter protein 2 gene DOID:630 genetic disease ISO RGD:1606102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343443 IL1RAP interleukin 1 receptor accessory protein gene DOID:409 liver disease ISO RGD:732294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12343443 IL1RAP interleukin 1 receptor accessory protein gene DOID:5419 schizophrenia ISO RGD:732294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12343443 IL1RAP interleukin 1 receptor accessory protein gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:732294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27738319 12343443 IL1RAP interleukin 1 receptor accessory protein gene DOID:630 genetic disease ISO RGD:732294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343443 IL1RAP interleukin 1 receptor accessory protein gene DOID:684 hepatocellular carcinoma ISO RGD:732294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12343443 IL1RAP interleukin 1 receptor accessory protein gene DOID:9000918 Disease Progression ISO RGD:732294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27738319 12343443 IL1RAP interleukin 1 receptor accessory protein gene DOID:9002189 High Myopia ISO RGD:732294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12343471 LSS lanosterol synthase gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:736635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12343471 LSS lanosterol synthase gene DOID:0080582 hypotrichosis 14 ISO RGD:736635 D RGD:7240710 20190315 OMIM 12343471 LSS lanosterol synthase gene DOID:0080582 hypotrichosis 14 ISO RGD:736635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypotrichosis 14 PMID:25741868|PMID:28492532|PMID:30401459|PMID:30723320|PMID:33155697 12343471 LSS lanosterol synthase gene DOID:0080950 alopecia-mental retardation syndrome 4 ISO RGD:736635 D RGD:7240710 20200429 OMIM 12343471 LSS lanosterol synthase gene DOID:0080950 alopecia-mental retardation syndrome 4 ISO RGD:736635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 4 PMID:17576681|PMID:25741868|PMID:28492532|PMID:30401459|PMID:30723320|PMID:33155697|PMID:9536098 12343471 LSS lanosterol synthase gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:736635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 12343471 LSS lanosterol synthase gene DOID:0110266 cataract 9 multiple types ISO RGD:736635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12343471 LSS lanosterol synthase gene DOID:0110267 cataract 44 ISO RGD:736635 D RGD:7240710 20180130 OMIM 12343471 LSS lanosterol synthase gene DOID:0110267 cataract 44 ISO RGD:736635 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cataract 44 PMID:25741868|PMID:28492532 12343471 LSS lanosterol synthase gene DOID:11100 Q fever ISO RGD:736635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16469060 12343471 LSS lanosterol synthase gene DOID:12849 autistic disorder ISO RGD:736635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12343471 LSS lanosterol synthase gene DOID:630 genetic disease ISO RGD:736635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12343471 LSS lanosterol synthase gene DOID:83 cataract ISO RGD:736635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 12343471 LSS lanosterol synthase gene DOID:891 progressive myoclonus epilepsy ISO RGD:736635 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12343471 LSS lanosterol synthase gene DOID:9000808 Hypercholesterolemia ISO RGD:733768 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:25168180|REF_RGD_ID:13782271 12343471 LSS lanosterol synthase gene DOID:9263 homocystinuria ISO RGD:736635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12343471 LSS lanosterol synthase gene DOID:9455 lipid storage disease ISO RGD:736635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414 12343471 LSS lanosterol synthase gene DOID:9562 primary ciliary dyskinesia ISO RGD:736635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12343543 CA9 carbonic anhydrase 9 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1315034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 12343543 CA9 carbonic anhydrase 9 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1315034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12343543 CA9 carbonic anhydrase 9 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1315034 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12343543 CA9 carbonic anhydrase 9 gene DOID:0080365 endometrial hyperplasia ISO RGD:1315034 D RGD:9068941 20200609 RGD protein:altered localization:membrane, endometrium PMID:17452774|REF_RGD_ID:2298945 12343543 CA9 carbonic anhydrase 9 gene DOID:0080942 anauxetic dysplasia ISO RGD:1315034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12343543 CA9 carbonic anhydrase 9 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1315034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12343543 CA9 carbonic anhydrase 9 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1315034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12343543 CA9 carbonic anhydrase 9 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1315034 D RGD:9068941 20200609 RGD PMID:14520462|REF_RGD_ID:2293197 12343543 CA9 carbonic anhydrase 9 gene DOID:2043 hepatitis B disease_progression ISO RGD:1315034 D RGD:9068941 20210108 RGD DNA:SNP::rs2071676(human) PMID:32297155|REF_RGD_ID:40903057 12343543 CA9 carbonic anhydrase 9 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1315034 D RGD:9068941 20200609 RGD PMID:15069539|REF_RGD_ID:2298947 12343543 CA9 carbonic anhydrase 9 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1315034 D RGD:9068941 20200609 RGD PMID:17245699|REF_RGD_ID:2293195 12343543 CA9 carbonic anhydrase 9 gene DOID:3883 Lynch syndrome ISO RGD:1315034 D RGD:9068941 20220916 RGD protein:increased expression:colorectum PMID:17855694|REF_RGD_ID:155226867 12343543 CA9 carbonic anhydrase 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1315034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 12343543 CA9 carbonic anhydrase 9 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1315327 D RGD:9068941 20220916 RGD PMID:23910904|REF_RGD_ID:155226863 12343543 CA9 carbonic anhydrase 9 gene DOID:4450 renal cell carcinoma ISO RGD:1315034 D RGD:9068941 20200609 RGD PMID:12883698|REF_RGD_ID:2293199 12343543 CA9 carbonic anhydrase 9 gene DOID:4450 renal cell carcinoma ISO RGD:1315034 D RGD:9068941 20200609 RGD DNA, mRNA:hypomethylation, increased expression:promoter, kidney PMID:11506497|REF_RGD_ID:2293201 12343543 CA9 carbonic anhydrase 9 gene DOID:4450 renal cell carcinoma ISO RGD:1315034 D RGD:9068941 20200609 RGD protein:increased expression:serum, urine PMID:12966427|REF_RGD_ID:2293198 12343543 CA9 carbonic anhydrase 9 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1315034 D RGD:9068941 20200609 RGD PMID:18464292|REF_RGD_ID:2293191 12343543 CA9 carbonic anhydrase 9 gene DOID:630 genetic disease ISO RGD:1315034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343543 CA9 carbonic anhydrase 9 gene DOID:6432 pulmonary hypertension ISO RGD:1315034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20110409 12343543 CA9 carbonic anhydrase 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1315034 D RGD:9068941 20220916 RGD mRNA:altered expression:liver PMID:29900055|REF_RGD_ID:155226869 12343543 CA9 carbonic anhydrase 9 gene DOID:8552 chronic myeloid leukemia ISO RGD:1315034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17157168 12343543 CA9 carbonic anhydrase 9 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1315034 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms PMID:17233814|REF_RGD_ID:2293196 12343543 CA9 carbonic anhydrase 9 gene DOID:9000156 Metaplasia ISO RGD:1315034 D RGD:9068941 20200609 RGD protein:altered localization:membrane, endometrium PMID:17429140|REF_RGD_ID:2298946 12343543 CA9 carbonic anhydrase 9 gene DOID:9000784 Fibrosis ISO RGD:1315034 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;mRNA:increased expression:breast PMID:18483361|REF_RGD_ID:2293190 12343543 CA9 carbonic anhydrase 9 gene DOID:9002141 Anaplasia ISO RGD:1315034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19808899 12343543 CA9 carbonic anhydrase 9 gene DOID:9002669 Hypoxia ISO RGD:1315034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16954440 12343543 CA9 carbonic anhydrase 9 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1315034 D RGD:9068941 20200609 RGD PMID:12687273|REF_RGD_ID:2293200 12343543 CA9 carbonic anhydrase 9 gene DOID:9003373 Uterine Cervical Neoplasms treatment ISO RGD:1315034 D RGD:9068941 20200609 RGD PMID:17308115|REF_RGD_ID:2293193 12343543 CA9 carbonic anhydrase 9 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1315034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12343543 CA9 carbonic anhydrase 9 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1315034 D RGD:9068941 20200609 RGD protein:altered localization:membrane, endometrium PMID:17452774|REF_RGD_ID:2298945 12343543 CA9 carbonic anhydrase 9 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1306426 D RGD:9068941 20200609 RGD PMID:17280655|REF_RGD_ID:2293194 12343543 CA9 carbonic anhydrase 9 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1306426 D RGD:9068941 20200609 RGD associated with Anoxia;protein:increased expression:heart right ventricle PMID:16714773|REF_RGD_ID:2293204 12343543 CA9 carbonic anhydrase 9 gene DOID:9008138 Ductal Carcinoma ISO RGD:1315034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 12343543 CA9 carbonic anhydrase 9 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1315034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12343543 CA9 carbonic anhydrase 9 gene DOID:9870 galactosemia ISO RGD:1315034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12343557 BCL11B BCL11 transcription factor B gene DOID:0060041 autism spectrum disorder ISO RGD:1322422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12343557 BCL11B BCL11 transcription factor B gene DOID:0060058 lymphoma ISO RGD:1322422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17941976 12343557 BCL11B BCL11 transcription factor B gene DOID:0080600 COVID-19 ISO RGD:1322422 D RGD:9068941 20200702 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12343557 BCL11B BCL11 transcription factor B gene DOID:0111962 combined immunodeficiency ISO RGD:1322422 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25627829|PMID:27959755 12343557 BCL11B BCL11 transcription factor B gene DOID:0111979 immunodeficiency 49 ISO RGD:1322422 D RGD:7240710 20190315 OMIM 12343557 BCL11B BCL11 transcription factor B gene DOID:0111979 immunodeficiency 49 ISO RGD:1322422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BCL11B-related BAFopathy | ClinVar Annotator: match by term: Immunodeficiency 49 PMID:25627829|PMID:25741868|PMID:27959755|PMID:28492532|PMID:29985992|PMID:32185379 12343557 BCL11B BCL11 transcription factor B gene DOID:10907 microcephaly ISO RGD:1322422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12343557 BCL11B BCL11 transcription factor B gene DOID:12849 autistic disorder ISO RGD:1322422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:28492532 12343557 BCL11B BCL11 transcription factor B gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1322422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20972433 12343557 BCL11B BCL11 transcription factor B gene DOID:630 genetic disease ISO RGD:1322422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19344873|PMID:27535533|PMID:28303347|PMID:28492532|PMID:29985992|PMID:32659295 12343557 BCL11B BCL11 transcription factor B gene DOID:9009214 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES ISO RGD:1322422 D RGD:7240710 20190315 OMIM 12343557 BCL11B BCL11 transcription factor B gene DOID:9009214 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES ISO RGD:1322422 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities PMID:25741868|PMID:27959755|PMID:28492532|PMID:29985992 12343569 SYNDIG1 synapse differentiation inducing 1 gene DOID:630 genetic disease ISO RGD:1321842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343581 ASGR2 asialoglycoprotein receptor 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1343618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12343581 ASGR2 asialoglycoprotein receptor 2 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1343618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 12343581 ASGR2 asialoglycoprotein receptor 2 gene DOID:0080600 COVID-19 ISO RGD:1343618 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12343581 ASGR2 asialoglycoprotein receptor 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1343618 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12343581 ASGR2 asialoglycoprotein receptor 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1343618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12343581 ASGR2 asialoglycoprotein receptor 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1343618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12343581 ASGR2 asialoglycoprotein receptor 2 gene DOID:630 genetic disease ISO RGD:1343618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343649 IL2RB interleukin 2 receptor subunit beta gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:737611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12343649 IL2RB interleukin 2 receptor subunit beta gene DOID:0080600 COVID-19 severity ISO RGD:737611 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32297828|REF_RGD_ID:32716368 12343649 IL2RB interleukin 2 receptor subunit beta gene DOID:0090036 myoclonic dystonia 26 ISO RGD:737611 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12343649 IL2RB interleukin 2 receptor subunit beta gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:737611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12343649 IL2RB interleukin 2 receptor subunit beta gene DOID:0111997 immunodeficiency 63 ISO RGD:737611 D RGD:7240710 20190731 OMIM 12343649 IL2RB interleukin 2 receptor subunit beta gene DOID:0111997 immunodeficiency 63 ISO RGD:737611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 63 with lymphoproliferation and autoimmunity PMID:25741868|PMID:28492532|PMID:31040185 12343649 IL2RB interleukin 2 receptor subunit beta gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:737611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12343649 IL2RB interleukin 2 receptor subunit beta gene DOID:1205 allergic disease ISO RGD:737611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12343649 IL2RB interleukin 2 receptor subunit beta gene DOID:1697 ichthyosis ISO RGD:737611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ichthyosis 12343649 IL2RB interleukin 2 receptor subunit beta gene DOID:2043 hepatitis B disease_progression ISO RGD:737611 D RGD:9068941 20210312 RGD PMID:29307521|REF_RGD_ID:42724467 12343649 IL2RB interleukin 2 receptor subunit beta gene DOID:2113 coccidiosis exacerbates ISO RGD:732849 D RGD:9068941 20210312 RGD PMID:20460838|REF_RGD_ID:42724464 12343649 IL2RB interleukin 2 receptor subunit beta gene DOID:2841 asthma ISO RGD:732849 D RGD:9068941 20200609 RGD PMID:18641329|REF_RGD_ID:5147447 12343649 IL2RB interleukin 2 receptor subunit beta gene DOID:2841 asthma ISO RGD:737611 D RGD:9068941 20200609 RGD DNA:SNP: :rs2284033 (human) PMID:20860503|REF_RGD_ID:5024942 12343649 IL2RB interleukin 2 receptor subunit beta gene DOID:350 mastocytosis ISO RGD:732849 D RGD:9068941 20210312 RGD PMID:21301182|REF_RGD_ID:42724469 12343649 IL2RB interleukin 2 receptor subunit beta gene DOID:417 autoimmune disease ISO RGD:732849 D RGD:9068941 20200609 RGD PMID:12196288|REF_RGD_ID:5684380 12343649 IL2RB interleukin 2 receptor subunit beta gene DOID:437 myasthenia gravis ISO RGD:737611 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron:c.-33-11362T>C (rs743777) (human) PMID:20728947|REF_RGD_ID:5684377 12343649 IL2RB interleukin 2 receptor subunit beta gene DOID:552 pneumonia ISO RGD:737611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12343649 IL2RB interleukin 2 receptor subunit beta gene DOID:630 genetic disease ISO RGD:737611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12343649 IL2RB interleukin 2 receptor subunit beta gene DOID:7148 rheumatoid arthritis ISO RGD:737611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 12343649 IL2RB interleukin 2 receptor subunit beta gene DOID:883 parasitic helminthiasis infectious disease ameliorates ISO RGD:732849 D RGD:9068941 20210312 RGD PMID:21301182|REF_RGD_ID:42724469 12343649 IL2RB interleukin 2 receptor subunit beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12343649 IL2RB interleukin 2 receptor subunit beta gene DOID:9004283 Transplant Rejection ameliorates ISO RGD:732849 D RGD:9068941 20210312 RGD PMID:9293878|REF_RGD_ID:42733040 12343649 IL2RB interleukin 2 receptor subunit beta gene DOID:9005106 Animal Toxoplasmosis ameliorates ISO RGD:732849 D RGD:9068941 20210312 RGD PMID:11286020|REF_RGD_ID:42724468 12343649 IL2RB interleukin 2 receptor subunit beta gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:737611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 12343649 IL2RB interleukin 2 receptor subunit beta gene DOID:9007329 Human Viral Hepatitis ISO RGD:737611 D RGD:9068941 20210312 RGD protein:decreased expression:peripheral blood lymphocyte PMID:1325198|REF_RGD_ID:42724465 12343649 IL2RB interleukin 2 receptor subunit beta gene DOID:9008707 Viremia ISO RGD:737611 D RGD:9068941 20210312 RGD PMID:29307521|REF_RGD_ID:42724467 12343649 IL2RB interleukin 2 receptor subunit beta gene DOID:9146 visceral leishmaniasis susceptibility ISO RGD:737611 D RGD:9068941 20210312 RGD DNA:polymorphisms:exon:8777, 8838(human) PMID:17108990|REF_RGD_ID:42724466 12343649 IL2RB interleukin 2 receptor subunit beta gene DOID:9744 type 1 diabetes mellitus ameliorates ISO RGD:732849 D RGD:9068941 20210312 RGD PMID:29367461|REF_RGD_ID:42733039 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1345848 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28434932 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1345848 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:21871427|REF_RGD_ID:8694097 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1345848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:0060224 atrial fibrillation ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:20935575|REF_RGD_ID:8693675 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:0060903 thrombosis ISO RGD:1345848 D RGD:9068941 20200609 RGD associated with Arteriovenous Fistula;DNA:insertion:promoter:g.-1612insA (rs35068180) (human) PMID:20616161|REF_RGD_ID:7207048 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:0080855 Parkinsonism treatment ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:22498097|REF_RGD_ID:8693688 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:0080933 immunoglobulin light chain amyloidosis ISO RGD:1345848 D RGD:9068941 20200609 RGD protein:increased expression:renal glomeruli (human) PMID:16164636|REF_RGD_ID:7207084 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:10140 dry eye syndrome ISO RGD:733756 D RGD:9068941 20200609 RGD protein:increased expression:corneal epithelium PMID:22590618|REF_RGD_ID:8662938 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:1059 intellectual disability ISO RGD:1345848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:10608 celiac disease ISO RGD:1345848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:10808 gastric ulcer ISO RGD:621317 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach PMID:15375341|REF_RGD_ID:10043177 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:10983 Alport syndrome ISO RGD:1345848 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:16509766|REF_RGD_ID:7241252 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:10983 Alport syndrome ISO RGD:733756 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:16509766|REF_RGD_ID:7241252 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:1222 cartilage disease ISO RGD:621317 D RGD:9068941 20200609 RGD mRNA:increased expression:articular cartilage PMID:20153826|REF_RGD_ID:2325860 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:12236 primary biliary cholangitis treatment ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:20056896|REF_RGD_ID:8552731 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:12704 ataxia telangiectasia ISO RGD:1345848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:12894 Sjogren's syndrome ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:19332626|REF_RGD_ID:8693671 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:13001 carotid stenosis ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:12364729|REF_RGD_ID:1580553 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:13139 crescentic glomerulonephritis ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:11095647|REF_RGD_ID:7241255 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:1324 lung cancer ISO RGD:1345848 D RGD:9068941 20200609 RGD protein:decreased expression:pleural fluid PMID:20216542|REF_RGD_ID:5129491 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:14175 von Hippel-Lindau disease onset ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:19551141|REF_RGD_ID:7241233 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:1561 cognitive disorder ISO RGD:621317 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:22363061|REF_RGD_ID:8694114 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:1612 breast cancer ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:17058024|REF_RGD_ID:8693321 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:219 colon cancer treatment ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:20043115|REF_RGD_ID:2316492 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:2349 arteriosclerosis ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:15823277|REF_RGD_ID:1580550 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:2508 Takayasu's arteritis treatment ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:23100088|REF_RGD_ID:8693315 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:2921 glomerulonephritis ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:15034162|REF_RGD_ID:7241253 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:2921 glomerulonephritis ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:23224597|REF_RGD_ID:8694105 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:2957 pulmonary tuberculosis ISO RGD:1345848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24890593 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:3042 allergic contact dermatitis ISO RGD:621317 D RGD:9068941 20200609 RGD mRNA:increased expression:skin, lymph node PMID:16977379|REF_RGD_ID:2325935 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:3042 allergic contact dermatitis ISO RGD:733756 D RGD:9068941 20200609 RGD PMID:10359808|REF_RGD_ID:8693317 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:3069 malignant astrocytoma ISO RGD:1345848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20188714 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:3319 lymphangioleiomyomatosis treatment ISO RGD:733756 D RGD:9068941 20200609 RGD PMID:23035046|REF_RGD_ID:8693678 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:3393 coronary artery disease ISO RGD:1345848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8662692 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:3393 coronary artery disease ISO RGD:1345848 D RGD:9068941 20200609 RGD DNA:insertion, haplotype:promoter:g.-1613insA rs3025058 (human) PMID:17893005|REF_RGD_ID:7207049 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:3393 coronary artery disease ISO RGD:1345848 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome PMID:16100452|REF_RGD_ID:8693322 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:3770 pulmonary fibrosis ISO RGD:733756 D RGD:9068941 20200609 RGD PMID:21871427|REF_RGD_ID:8694097 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:418 systemic scleroderma ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:15498049|REF_RGD_ID:8693674 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:418 systemic scleroderma severity ISO RGD:1345848 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12051403|REF_RGD_ID:8693663 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:4247 coronary restenosis ISO RGD:1345848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8662692 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:4250 conjunctivochalasis ISO RGD:1345848 D RGD:9068941 20200609 RGD protein:increased expression:conjunctiva PMID:20019361|REF_RGD_ID:8693314 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:4450 renal cell carcinoma ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:19551141|REF_RGD_ID:7241233 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:4450 renal cell carcinoma ISO RGD:1345848 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E45K rs679620 (human) PMID:15319295|REF_RGD_ID:7207067 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:4914 esophagus adenocarcinoma ISO RGD:1345848 D RGD:9068941 20200609 RGD DNA:insertion:promoter:g.-1613insA rs3025058 (human) PMID:19321798|REF_RGD_ID:7207058 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:574 peripheral nervous system disease ISO RGD:1345848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18754875 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:5844 myocardial infarction ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:15467919|REF_RGD_ID:1580551 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:6000 congestive heart failure ISO RGD:1345848 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle, plasma PMID:20606426|REF_RGD_ID:8694112 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:630 genetic disease ISO RGD:1345848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:7148 rheumatoid arthritis ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:11796404|REF_RGD_ID:7241254 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:7148 rheumatoid arthritis ISO RGD:1345848 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:7639798|REF_RGD_ID:7207128 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:7148 rheumatoid arthritis disease_progression ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:22314025|REF_RGD_ID:8693673 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:7693 abdominal aortic aneurysm ISO RGD:621317 D RGD:9068941 20200609 RGD protein:increased expression:aorta (rat) PMID:15238617|REF_RGD_ID:1302825 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:783 end stage renal disease severity ISO RGD:1345848 D RGD:9068941 20200609 RGD DNA:insertion, haplotype:promoter:g.-1613insA (human) PMID:19221176|REF_RGD_ID:7207064 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:824 periodontitis ISO RGD:621317 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19961752|REF_RGD_ID:2325862 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:83 cataract ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:17062942|REF_RGD_ID:8693669 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:8398 osteoarthritis ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:16128596|REF_RGD_ID:7207089 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:8398 osteoarthritis ISO RGD:1345848 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid (human) PMID:15194590|REF_RGD_ID:7207131 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:853 polymyalgia rheumatica ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:11796404|REF_RGD_ID:7241254 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:90 degenerative disc disease ISO RGD:621317 D RGD:9068941 20200609 RGD mRNA:increased expression:intervertebral disc PMID:20948465|REF_RGD_ID:8661231 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:90 degenerative disc disease treatment ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:20472983|REF_RGD_ID:2325859 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9000081 Lymphatic Metastasis ISO RGD:1345848 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:deletion:promoter:-1170_-1172delA (human) PMID:15161710|REF_RGD_ID:8662937 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9000528 Coronary Disease ISO RGD:1345848 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Coronary heart disease, susceptibility to, 6 PMID:10190398|PMID:10351963|PMID:12477941|PMID:12485468|PMID:7727178|PMID:8662692|PMID:9699891 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1345848 D RGD:7240710 20190502 OMIM 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9000656 Penetrating Wounds ISO RGD:621317 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:21649785|REF_RGD_ID:8694117 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9000955 Acute Otitis Media ISO RGD:733756 D RGD:9068941 20210611 RGD mRNA:increased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9000965 Neoplasm Metastasis ISO RGD:621317 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Animal;protein:increased expression:brain PMID:16158251|REF_RGD_ID:8547884 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:17027671|REF_RGD_ID:2325934 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:17094476|REF_RGD_ID:2325929 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:22845765|REF_RGD_ID:7241226 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9002165 Diabetic Nephropathies ISO RGD:1345848 D RGD:9068941 20200609 RGD protein: decreased expression: glomerulus PMID:9211353|REF_RGD_ID:7241249 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9002211 Hyperalgesia ISO RGD:1345848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18754875 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9002211 Hyperalgesia ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:22056600|REF_RGD_ID:8693664 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9002331 Knee Osteoarthritis treatment ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:22114772|REF_RGD_ID:8694098 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9002457 Experimental Arthritis ISO RGD:1345848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20974942 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9002457 Experimental Arthritis ISO RGD:621317 D RGD:9068941 20200609 RGD mRNA:increased expression:ankle joint PMID:24244039|REF_RGD_ID:8694124 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9002457 Experimental Arthritis ISO RGD:733756 D RGD:9068941 20200609 RGD PMID:20703013|REF_RGD_ID:7241231 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9002457 Experimental Arthritis treatment ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:21679445|PMID:24011916|REF_RGD_ID:8549748|REF_RGD_ID:8693318 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9002457 Experimental Arthritis treatment ISO RGD:733756 D RGD:9068941 20200609 RGD PMID:24244039|REF_RGD_ID:8694124 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1345848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17971790 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:21038694|REF_RGD_ID:8694100 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9003871 Venous Thrombosis ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:20515599|REF_RGD_ID:2325775 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9004009 Reperfusion Injury ISO RGD:621317 D RGD:9068941 20200609 RGD protein:increased protein, activity:brain PMID:15099024|REF_RGD_ID:2325962 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9004283 Transplant Rejection ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:22845765|REF_RGD_ID:7241226 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1345848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20188714|PMID:26284488 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9005175 Ulcer ISO RGD:1345848 D RGD:9068941 20200609 RGD associated with Melanoma PMID:15750195|REF_RGD_ID:8693676 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:10428026|REF_RGD_ID:8662909 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9005930 Endotoxemia ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:17083784|REF_RGD_ID:2290426 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9006182 Carotid Artery Injuries ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:9327785|REF_RGD_ID:8547910 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9007096 Stroke treatment ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:24194350|REF_RGD_ID:8694111 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9007590 Gouty Arthritis ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:11796404|REF_RGD_ID:7241254 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9008 psoriatic arthritis ISO RGD:1345848 D RGD:9068941 20200609 RGD PMID:11796404|REF_RGD_ID:7241254 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9008331 Tendon Injuries ISO RGD:621317 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;mRNA:decreased expression:tendon PMID:23042903|REF_RGD_ID:8694102 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:1345848 D RGD:9068941 20200609 RGD DNA:insertion, haplotype:promoter:g.-1612insA (human) PMID:17125518|REF_RGD_ID:7207065 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9008939 Breast Neoplasms ISO RGD:1345848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9351 diabetes mellitus ISO RGD:1345848 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:11159210|REF_RGD_ID:8693313 12343665 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:621317 D RGD:9068941 20200609 RGD PMID:23204894|REF_RGD_ID:8694120 12343678 PTGER2 prostaglandin E receptor 2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1342884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to PMID:15496426 12343678 PTGER2 prostaglandin E receptor 2 gene DOID:0111579 asthma, nasal polyps, and aspirin intolerance ISO RGD:1342884 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 12343678 PTGER2 prostaglandin E receptor 2 gene DOID:0111579 asthma, nasal polyps, and aspirin intolerance susceptibility ISO RGD:1342884 D RGD:7240710 20230505 OMIM 12343678 PTGER2 prostaglandin E receptor 2 gene DOID:1876 sexual dysfunction ISO RGD:1342884 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18726914 12343678 PTGER2 prostaglandin E receptor 2 gene DOID:289 endometriosis ISO RGD:1342884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19407222 12343678 PTGER2 prostaglandin E receptor 2 gene DOID:5223 infertility ISO RGD:1342884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10359563 12343678 PTGER2 prostaglandin E receptor 2 gene DOID:630 genetic disease ISO RGD:1342884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343678 PTGER2 prostaglandin E receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12343698 ZBTB38 zinc finger and BTB domain containing 38 gene DOID:630 genetic disease ISO RGD:1603531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343720 ELOC elongin C gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:733902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K PMID:15805163|PMID:20685671|PMID:21681106 12343720 ELOC elongin C gene DOID:4450 renal cell carcinoma ISO RGD:733902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:26619011 12343720 ELOC elongin C gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:733902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:26619011 12343731 ZSWIM6 zinc finger SWIM-type containing 6 gene DOID:0060342 acromelic frontonasal dysostosis ISO RGD:1352510 D RGD:7240710 20180130 OMIM 12343731 ZSWIM6 zinc finger SWIM-type containing 6 gene DOID:0060342 acromelic frontonasal dysostosis ISO RGD:1352510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acromelic frontonasal dysostosis PMID:25105228|PMID:25741868|PMID:26706854|PMID:28492532 12343731 ZSWIM6 zinc finger SWIM-type containing 6 gene DOID:1826 epilepsy ISO RGD:1352510 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12343731 ZSWIM6 zinc finger SWIM-type containing 6 gene DOID:630 genetic disease ISO RGD:1352510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25105228|PMID:25741868|PMID:26706854|PMID:28492532 12343731 ZSWIM6 zinc finger SWIM-type containing 6 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1352510 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:25741868|PMID:28492532 12343731 ZSWIM6 zinc finger SWIM-type containing 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12343731 ZSWIM6 zinc finger SWIM-type containing 6 gene DOID:9009123 Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features ISO RGD:1352510 D RGD:7240710 20190315 OMIM 12343731 ZSWIM6 zinc finger SWIM-type containing 6 gene DOID:9009123 Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features ISO RGD:1352510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | ClinVar Annotator: match by term: ZSWIM6 related intellectual disability PMID:25741868|PMID:28492532|PMID:29198722 12343749 ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1313339 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12343749 ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1313339 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12343749 ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:1059 intellectual disability ISO RGD:1313339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12343749 ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1313339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12343749 ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1313339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12343749 ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1313339 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12343749 ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1313339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12343749 ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:630 genetic disease ISO RGD:1313339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343773 ATG2B autophagy related 2B gene DOID:0070004 myeloid neoplasm ISO RGD:1312572 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26280900 12343773 ATG2B autophagy related 2B gene DOID:2224 essential thrombocythemia ISO RGD:1312572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 12343773 ATG2B autophagy related 2B gene DOID:4971 myelofibrosis ISO RGD:1312572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis 12343773 ATG2B autophagy related 2B gene DOID:630 genetic disease ISO RGD:1312572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343773 ATG2B autophagy related 2B gene DOID:8692 myeloid leukemia ISO RGD:1312572 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26280900 12343773 ATG2B autophagy related 2B gene DOID:9119 acute myeloid leukemia ISO RGD:1312572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 12343829 LOC480777 UDP-glucuronosyltransferase 2A1 gene DOID:0081267 graft-versus-host disease ISO RGD:1350006 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:19935662 12343829 LOC480777 UDP-glucuronosyltransferase 2A1 gene DOID:11476 osteoporosis ISO RGD:1350006 D RGD:7240710 20210114 OMIM 12343829 LOC480777 UDP-glucuronosyltransferase 2A1 gene DOID:11476 osteoporosis ISO RGD:1350006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 12 PMID:18992858 12343829 LOC480777 UDP-glucuronosyltransferase 2A1 gene DOID:299 adenocarcinoma ISO RGD:1350006 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:17416778 12343829 LOC480777 UDP-glucuronosyltransferase 2A1 gene DOID:630 genetic disease ISO RGD:1350006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343829 LOC480777 UDP-glucuronosyltransferase 2A1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1350006 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12343829 LOC480777 UDP-glucuronosyltransferase 2A1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350006 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:17826523 12343829 LOC480777 UDP-glucuronosyltransferase 2A1 gene DOID:9005172 Lung Neoplasms ISO RGD:1350006 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:17416778 12343829 LOC480777 UDP-glucuronosyltransferase 2A1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:708541 D RGD:9068941 20210122 RGD mRNA:increased expression:liver PMID:20487213|REF_RGD_ID:11541075 12343830 MCM3 minichromosome maintenance complex component 3 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1313036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:25741868|PMID:33654309 12343830 MCM3 minichromosome maintenance complex component 3 gene DOID:630 genetic disease ISO RGD:1313036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343851 PLEKHA8 pleckstrin homology domain containing A8 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1348276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 12343851 PLEKHA8 pleckstrin homology domain containing A8 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12343851 PLEKHA8 pleckstrin homology domain containing A8 gene DOID:630 genetic disease ISO RGD:1348276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343869 PRKD3 protein kinase D3 gene DOID:0080690 RASopathy ISO RGD:1353868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12343869 PRKD3 protein kinase D3 gene DOID:630 genetic disease ISO RGD:1353868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343869 PRKD3 protein kinase D3 gene DOID:9004657 Weight Gain ISO RGD:1353868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12343895 OR5M3 olfactory receptor family 5 subfamily M member 3 gene DOID:1059 intellectual disability ISO RGD:1353329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12343895 OR5M3 olfactory receptor family 5 subfamily M member 3 gene DOID:630 genetic disease ISO RGD:1353329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1321715 D RGD:9068941 20220825 MouseDO OMIM:607785 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:0050861 colorectal adenocarcinoma severity ISO RGD:1321714 D RGD:9068941 20210723 RGD DNA:polymorphisms:multiple PMID:33075166|REF_RGD_ID:149735513 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1321714 D RGD:9068941 20210723 RGD mRNA:decreased expression:oral epithelium (human) PMID:32048621|REF_RGD_ID:149735374 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1321714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia PMID:22417203 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1321714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17454189|PMID:24160850|PMID:26285909 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:0060704 lymphoproliferative syndrome ISO RGD:1321715 D RGD:9068941 20200609 RGD PMID:15718420|REF_RGD_ID:11049481 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:0060903 thrombosis ISO RGD:1321714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16932337 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:0070004 myeloid neoplasm ISO RGD:1321715 D RGD:9068941 20200609 RGD PMID:17936561|REF_RGD_ID:11049465 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:0080600 COVID-19 ISO RGD:1321714 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1321714 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:bone marrow: PMID:8562934|REF_RGD_ID:11049466 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:0081082 acute myelomonocytic leukemia treatment ISO RGD:1321714 D RGD:9068941 20200609 RGD PMID:22187040|REF_RGD_ID:11049503 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:10283 prostate cancer ISO RGD:1321714 D RGD:9068941 20200609 RGD PMID:14977818|REF_RGD_ID:2302209 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:4971 myelofibrosis ISO RGD:1321714 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:multiple: PMID:21487043|REF_RGD_ID:11049484 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:630 genetic disease ISO RGD:1321714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1321714 D RGD:9068941 20210723 RGD human cells in mouse model PMID:27511526|REF_RGD_ID:149735514 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:8692 myeloid leukemia ISO RGD:1321715 D RGD:9068941 20200609 RGD PMID:17936561|REF_RGD_ID:11049465 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1321715 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:14566827|REF_RGD_ID:2302210 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9000647 Acute Erythroleukemia ISO RGD:1321714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9001039 Leukocytosis ISO RGD:1321714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27099147|PMID:27725143 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321715 D RGD:9068941 20200609 RGD PMID:10786663|REF_RGD_ID:2302208 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9002457 Experimental Arthritis ISO RGD:61308 D RGD:9068941 20200609 RGD PMID:10857786|REF_RGD_ID:61066 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9002720 Splenomegaly ISO RGD:1321714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1321715 D RGD:9068941 20200609 RGD PMID:10498246|REF_RGD_ID:2302211 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:1321714 D RGD:9068941 20201218 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26541527|REF_RGD_ID:40902860 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1321714 D RGD:7240710 20180130 OMIM 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1321714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, reduced survival in, somatic PMID:11091200|PMID:11290608|PMID:11442493|PMID:12384447|PMID:14604974|PMID:14670924|PMID:14737077|PMID:15256420|PMID:15374878|PMID:15625552|PMID:15667533|PMID:15863200|PMID:16091740|PMID:16371029|PMID:16410449|PMID:16573742|PMID:16857985|PMID:16990784|PMID:17047150|PMID:17387224|PMID:17606455|PMID:17889720|PMID:17942876|PMID:19602710|PMID:19657110|PMID:19840437|PMID:20733134|PMID:22368270|PMID:22504183|PMID:22504184|PMID:22504185|PMID:22504186|PMID:23261068|PMID:23321257|PMID:23430109|PMID:23714533|PMID:23783394|PMID:23878140|PMID:24046014|PMID:24619500|PMID:25157968 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1321714 D RGD:9068941 20200609 RGD DNA:duplication mutation:cds: PMID:16642044|REF_RGD_ID:11049467 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1321714 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:23969938|REF_RGD_ID:11049482 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321714 D RGD:9068941 20210723 RGD mRNA:decreased expression:gastrointestinal system smooth muscle (human) PMID:21171987|REF_RGD_ID:149735515 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9538 multiple myeloma ISO RGD:1321714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1321714 D RGD:7240710 20230505 OMIM 12343900 FLT3 fms related receptor tyrosine kinase 3 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1321714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute lymphoid leukemia PMID:11290608|PMID:11442493|PMID:14604974|PMID:14670924|PMID:15256420|PMID:16857985|PMID:17606455|PMID:17889720|PMID:19657110|PMID:20733134|PMID:22368270|PMID:22504183|PMID:22504184|PMID:23261068|PMID:23321257|PMID:23430109|PMID:23714533|PMID:23783394|PMID:24046014|PMID:25157968 12343941 TECTA tectorin alpha gene DOID:0050563 nonsyndromic deafness ISO RGD:1320369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:11087000|PMID:12746400|PMID:16718611|PMID:17431902|PMID:21520338|PMID:24033266|PMID:24130743|PMID:25741868|PMID:26467025|PMID:26969326|PMID:28492532|PMID:28946916|PMID:30311386|PMID:30935366|PMID:31163360|PMID:31554319|PMID:33297549|PMID:34795337 12343941 TECTA tectorin alpha gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1320369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 12343941 TECTA tectorin alpha gene DOID:0060017 CD3epsilon deficiency ISO RGD:1320369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12343941 TECTA tectorin alpha gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1320369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12343941 TECTA tectorin alpha gene DOID:0080690 RASopathy ISO RGD:1320369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12343941 TECTA tectorin alpha gene DOID:0110479 autosomal recessive nonsyndromic deafness 21 ISO RGD:1320369 D RGD:7240710 20180130 OMIM 12343941 TECTA tectorin alpha gene DOID:0110479 autosomal recessive nonsyndromic deafness 21 ISO RGD:1320369 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 21 | ClinVar Annotator: match by term: Deafness, neurosensory autosomal recessive 21 PMID:11087000|PMID:12746400|PMID:17431902|PMID:17576681|PMID:17661817|PMID:20947814|PMID:21520338|PMID:21917145|PMID:22718023|PMID:22980975|PMID:23967202|PMID:24033266|PMID:24130743|PMID:24586623|PMID:25262649|PMID:25741868|PMID:26467025|PMID:27068579|PMID:27627659|PMID:28000701|PMID:28492532|PMID:29196752|PMID:30303587|PMID:30311386|PMID:31163360|PMID:31554319|PMID:32747562|PMID:32853555|PMID:34008892|PMID:35802133|PMID:36633841|PMID:9536098|PMID:9949200 12343941 TECTA tectorin alpha gene DOID:0110544 autosomal dominant nonsyndromic deafness 12 ISO RGD:1320369 D RGD:7240710 20180130 OMIM 12343941 TECTA tectorin alpha gene DOID:0110544 autosomal dominant nonsyndromic deafness 12 ISO RGD:1320369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 | ClinVar Annotator: match by term: Deafness, autosomal dominant 12 PMID:10196713|PMID:10987647|PMID:11087000|PMID:11333869|PMID:12021773|PMID:12162770|PMID:12746400|PMID:16718611|PMID:17431902|PMID:17576681|PMID:17661817|PMID:18575463|PMID:20947814|PMID:21520338|PMID:21917145|PMID:22718023|PMID:22980975|PMID:23967202|PMID:24033266|PMID:24130743|PMID:24586623|PMID:25262649|PMID:25741868|PMID:26467025|PMID:27068579|PMID:27627659|PMID:28000701|PMID:28492532|PMID:28946916|PMID:29196752|PMID:29293505|PMID:30311386|PMID:30935366|PMID:31163360|PMID:31554319|PMID:32747562|PMID:32853555|PMID:33297549|PMID:34008892|PMID:34795337|PMID:9536098|PMID:9590290 12343941 TECTA tectorin alpha gene DOID:0110547 autosomal dominant nonsyndromic deafness 16 ISO RGD:1320369 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 16 PMID:20947814|PMID:21520338|PMID:21917145|PMID:22718023|PMID:24033266|PMID:24586623|PMID:25741868|PMID:27627659|PMID:28000701|PMID:28492532|PMID:31163360|PMID:31554319|PMID:32853555 12343941 TECTA tectorin alpha gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1320369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12343941 TECTA tectorin alpha gene DOID:0111971 immunodeficiency 18 ISO RGD:1320369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12343941 TECTA tectorin alpha gene DOID:0111972 immunodeficiency 19 ISO RGD:1320369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12343941 TECTA tectorin alpha gene DOID:0111973 immunodeficiency 17 ISO RGD:1320369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12343941 TECTA tectorin alpha gene DOID:10003 sensorineural hearing loss ISO RGD:1320369 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:20947814|PMID:21520338|PMID:21917145|PMID:22718023|PMID:24033266|PMID:24586623|PMID:25741868|PMID:27627659|PMID:28000701|PMID:28492532|PMID:31163360|PMID:31554319|PMID:32853555 12343941 TECTA tectorin alpha gene DOID:5419 schizophrenia ISO RGD:1320369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12343941 TECTA tectorin alpha gene DOID:630 genetic disease ISO RGD:1320369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20947814|PMID:21520338|PMID:21917145|PMID:22718023|PMID:24033266|PMID:24586623|PMID:25741868|PMID:27627659|PMID:28000701|PMID:28492532|PMID:31163360|PMID:31554319|PMID:32853555 12343941 TECTA tectorin alpha gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12343941 TECTA tectorin alpha gene DOID:9004538 Hearing Loss ISO RGD:1320369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:21520338|PMID:24033266|PMID:24586623|PMID:25262649|PMID:25741868|PMID:26969326|PMID:27068579|PMID:28492532|PMID:30311386|PMID:34008892 12343941 TECTA tectorin alpha gene DOID:9007661 Dwarfism ISO RGD:1320369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12343941 TECTA tectorin alpha gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1320369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:24033266|PMID:25741868 12343941 TECTA tectorin alpha gene DOID:9008681 Deafness ISO RGD:1320369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 12343941 TECTA tectorin alpha gene DOID:9849 Meniere's disease ISO RGD:1320369 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:24033266|PMID:25741868|PMID:28492532 12343967 SEMA4A semaphorin 4A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12343967 SEMA4A semaphorin 4A gene DOID:0050572 cone-rod dystrophy ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive PMID:28492532 12343967 SEMA4A semaphorin 4A gene DOID:0110357 retinitis pigmentosa 35 ISO RGD:1312188 D RGD:7240710 20180130 OMIM 12343967 SEMA4A semaphorin 4A gene DOID:0110357 retinitis pigmentosa 35 ISO RGD:1312188 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 35 PMID:16199541|PMID:22956603|PMID:23360997|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28805479 12343967 SEMA4A semaphorin 4A gene DOID:0111017 cone-rod dystrophy 10 ISO RGD:1312188 D RGD:7240710 20180130 OMIM 12343967 SEMA4A semaphorin 4A gene DOID:0111017 cone-rod dystrophy 10 ISO RGD:1312188 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 10 PMID:16199541|PMID:22956603|PMID:23360997|PMID:24033266|PMID:25307848|PMID:25741868|PMID:26103963|PMID:28492532|PMID:28805479 12343967 SEMA4A semaphorin 4A gene DOID:0111228 Sveinsson chorioretinal atrophy ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Helicoid peripapillary chorioretinal degeneration PMID:25741868 12343967 SEMA4A semaphorin 4A gene DOID:0111940 immunodeficiency 42 ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12343967 SEMA4A semaphorin 4A gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12343967 SEMA4A semaphorin 4A gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1312188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12343967 SEMA4A semaphorin 4A gene DOID:10584 retinitis pigmentosa ISO RGD:1312188 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199541|PMID:23360997|PMID:24033266|PMID:25307848|PMID:25741868|PMID:26103963|PMID:28492532|PMID:28805479 12343967 SEMA4A semaphorin 4A gene DOID:1540 parathyroid carcinoma ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12343967 SEMA4A semaphorin 4A gene DOID:5812 MHC class II deficiency ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12343967 SEMA4A semaphorin 4A gene DOID:630 genetic disease ISO RGD:1312188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12343967 SEMA4A semaphorin 4A gene DOID:8501 fundus dystrophy ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:26103963|PMID:28492532 12343967 SEMA4A semaphorin 4A gene DOID:9004271 Colonic Polyps ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon polyps PMID:25637381|PMID:28492532 12343967 SEMA4A semaphorin 4A gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1312188 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33290778 12343967 SEMA4A semaphorin 4A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12343967 SEMA4A semaphorin 4A gene DOID:9256 colorectal cancer ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25637381|PMID:28492532 12344021 TCF24 transcription factor 24 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1602784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:28492532 12344021 TCF24 transcription factor 24 gene DOID:630 genetic disease ISO RGD:1602784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344038 SIN3B SIN3 transcription regulator family member B gene DOID:630 genetic disease ISO RGD:1348412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12344061 FAM193A family with sequence similarity 193 member A gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1320077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12344061 FAM193A family with sequence similarity 193 member A gene DOID:1856 cherubism ISO RGD:1320077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12344061 FAM193A family with sequence similarity 193 member A gene DOID:630 genetic disease ISO RGD:1320077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344091 CABLES2 Cdk5 and Abl enzyme substrate 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12344091 CABLES2 Cdk5 and Abl enzyme substrate 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1345026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12344091 CABLES2 Cdk5 and Abl enzyme substrate 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12344091 CABLES2 Cdk5 and Abl enzyme substrate 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1345026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12344091 CABLES2 Cdk5 and Abl enzyme substrate 2 gene DOID:630 genetic disease ISO RGD:1345026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344106 DCX doublecortin gene DOID:0050453 lissencephaly ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:10369164|PMID:11175293|PMID:18414213|PMID:23365099|PMID:25741868|PMID:28492532|PMID:29671837 12344106 DCX doublecortin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12344106 DCX doublecortin gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 PMID:28492532 12344106 DCX doublecortin gene DOID:0111169 subcortical band heterotopia ISO RGD:1348637 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Subcortical band heterotopia PMID:10915612|PMID:25140959|PMID:25741868|PMID:28953922 12344106 DCX doublecortin gene DOID:0112239 X-linked lissencephaly 1 ISO RGD:1348637 D RGD:7240710 20210331 OMIM 12344106 DCX doublecortin gene DOID:0112239 X-linked lissencephaly 1 ISO RGD:1348637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly type 1 due to doublecortin gene mutation PMID:10369164|PMID:10749977|PMID:11071144|PMID:11175293|PMID:11331616|PMID:11468322|PMID:12552055|PMID:12838518|PMID:17111359|PMID:18414213|PMID:18685874|PMID:22857951|PMID:23365099|PMID:25326635|PMID:25741868|PMID:25868952|PMID:28492532|PMID:29671837|PMID:29706646|PMID:30979500|PMID:32238909|PMID:35213059|PMID:9489699|PMID:9489700 12344106 DCX doublecortin gene DOID:11832 visual epilepsy ISO RGD:731627 D RGD:9068941 20200609 RGD PMID:18575605|REF_RGD_ID:12904723 12344106 DCX doublecortin gene DOID:11832 visual epilepsy onset ISO RGD:620670 D RGD:9068941 20200609 RGD associated with Subcortical Band Heterotopia, X-Linked PMID:20164125|REF_RGD_ID:12904732 12344106 DCX doublecortin gene DOID:12849 autistic disorder ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12344106 DCX doublecortin gene DOID:14500 fucosidosis ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fucosidosis PMID:25741868 12344106 DCX doublecortin gene DOID:1459 hypothyroidism ISO RGD:620670 D RGD:9068941 20200609 RGD protein:altered expression:cerebellum PMID:22595232|REF_RGD_ID:12904757 12344106 DCX doublecortin gene DOID:1826 epilepsy ISO RGD:1348637 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:17111359|PMID:18414213|PMID:25326635|PMID:25741868 12344106 DCX doublecortin gene DOID:3070 high grade glioma ISO RGD:731627 D RGD:9068941 20200609 RGD PMID:17178868|REF_RGD_ID:12904748 12344106 DCX doublecortin gene DOID:3070 high grade glioma disease_progression ISO RGD:1348637 D RGD:9068941 20200609 RGD PMID:21477071|REF_RGD_ID:12904761 12344106 DCX doublecortin gene DOID:3070 high grade glioma treatment ISO RGD:731627 D RGD:9068941 20200609 RGD PMID:19681167|REF_RGD_ID:12904754 12344106 DCX doublecortin gene DOID:3328 temporal lobe epilepsy ISO RGD:1348637 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:20888264|REF_RGD_ID:12904713 12344106 DCX doublecortin gene DOID:3454 brain infarction ISO RGD:620670 D RGD:9068941 20221027 RGD protein:altered expression:brain (rat) PMID:12161747|REF_RGD_ID:155630606 12344106 DCX doublecortin gene DOID:5419 schizophrenia ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12344106 DCX doublecortin gene DOID:630 genetic disease ISO RGD:1348637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10369164|PMID:11071144|PMID:11175293|PMID:11468322|PMID:12552055|PMID:14550532|PMID:18414213|PMID:18685874|PMID:19416314|PMID:23365099|PMID:25741868|PMID:25868952|PMID:26467025|PMID:28492532|PMID:32238909|PMID:35213059|PMID:9618162 12344106 DCX doublecortin gene DOID:9000660 Choristoma ISO RGD:1348637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectopic tissue PMID:10369164|PMID:10807542|PMID:11175293|PMID:11468322|PMID:12552055|PMID:12838518|PMID:14550532|PMID:17111359|PMID:17576681|PMID:18414213|PMID:18685874|PMID:19416314|PMID:23365099|PMID:25326635|PMID:25741868|PMID:25817838|PMID:25868952|PMID:28492532|PMID:28953922|PMID:29671837|PMID:30979500|PMID:31481326|PMID:35213059|PMID:9489699|PMID:9489700|PMID:9536098|PMID:9618162|PMID:9668176|PMID:9989615 12344106 DCX doublecortin gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1348637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:11175293|PMID:11468322|PMID:18414213|PMID:18685874|PMID:23365099|PMID:28492532|PMID:35213059 12344106 DCX doublecortin gene DOID:9001379 Lissencephaly and Agenesis of Corpus Callosum ISO RGD:1348637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly and agenesis of corpus callosum | ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked PMID:10369164|PMID:10441340|PMID:10749977|PMID:11175293|PMID:11331616|PMID:11468322|PMID:12552055|PMID:12838518|PMID:17111359|PMID:18414213|PMID:18685874|PMID:22857951|PMID:23365099|PMID:25326635|PMID:25741868|PMID:25868952|PMID:28492532|PMID:29671837|PMID:30979500|PMID:35213059|PMID:9489699|PMID:9489700 12344106 DCX doublecortin gene DOID:9002676 Cerebral Hemorrhage ISO RGD:620670 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus PMID:24144742|REF_RGD_ID:12904766 12344106 DCX doublecortin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:9489700 12344106 DCX doublecortin gene DOID:9005501 Abnormal Cortical Gyration ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal cortical gyration PMID:18414213 12344106 DCX doublecortin gene DOID:9006534 Nervous System Malformations ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12344106 DCX doublecortin gene DOID:9008500 Classical Lissencephalies and Subcortical Band Heterotopias ISO RGD:1348637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly, X-linked PMID:10369164|PMID:11175293|PMID:11468322|PMID:12552055|PMID:12838518|PMID:17111359|PMID:18414213|PMID:18685874|PMID:23365099|PMID:25326635|PMID:25741868|PMID:25868952|PMID:28492532|PMID:29671837|PMID:30979500|PMID:35213059|PMID:9489699|PMID:9489700 12344106 DCX doublecortin gene DOID:9008552 Subcortical Band Heterotopia, X-Linked ISO RGD:1348637 D RGD:9068941 20200609 RGD DNA:deletions PMID:19050731|REF_RGD_ID:12904718 12344106 DCX doublecortin gene DOID:9008552 Subcortical Band Heterotopia, X-Linked ISO RGD:1348637 D RGD:9068941 20200609 RGD DNA:nonsense mutation: :p.R186C (971C>T) (human) PMID:9618162|REF_RGD_ID:12904762 12344106 DCX doublecortin gene DOID:9008552 Subcortical Band Heterotopia, X-Linked ISO RGD:620670 D RGD:9068941 20200609 RGD PMID:19098909|REF_RGD_ID:12904725 12344106 DCX doublecortin gene DOID:9352 type 2 diabetes mellitus ISO RGD:620670 D RGD:9068941 20200609 RGD protein:decreased expression:dentate gyrus PMID:18982449|REF_RGD_ID:12904763 12344135 SMIM11 small integral membrane protein 11 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1351649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12344135 SMIM11 small integral membrane protein 11 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1351649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12344135 SMIM11 small integral membrane protein 11 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1351649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12344135 SMIM11 small integral membrane protein 11 gene DOID:0110648 long QT syndrome 6 ISO RGD:1351649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 PMID:21626672|PMID:25640679|PMID:28492532 12344135 SMIM11 small integral membrane protein 11 gene DOID:1588 thrombocytopenia ISO RGD:1351649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 12344135 SMIM11 small integral membrane protein 11 gene DOID:2843 long QT syndrome ISO RGD:1351649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:25640679|PMID:28492532 12344153 OARD1 O-acyl-ADP-ribose deacylase 1 gene DOID:630 genetic disease ISO RGD:1317992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344177 NDUFAF8 NADH:ubiquinone oxidoreductase complex assembly factor 8 gene DOID:0112091 nuclear type mitochondrial complex I deficiency 34 ISO RGD:1626571 D RGD:7240710 20200226 OMIM 12344177 NDUFAF8 NADH:ubiquinone oxidoreductase complex assembly factor 8 gene DOID:0112091 nuclear type mitochondrial complex I deficiency 34 ISO RGD:1626571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 PMID:25741868|PMID:31866046 12344177 NDUFAF8 NADH:ubiquinone oxidoreductase complex assembly factor 8 gene DOID:630 genetic disease ISO RGD:1626571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344177 NDUFAF8 NADH:ubiquinone oxidoreductase complex assembly factor 8 gene DOID:700 mitochondrial metabolism disease ISO RGD:1626571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25741868|PMID:31866046 12344197 CTDSP1 CTD small phosphatase 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1313770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12344197 CTDSP1 CTD small phosphatase 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1313770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12344197 CTDSP1 CTD small phosphatase 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1313770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12344197 CTDSP1 CTD small phosphatase 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1313770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12344197 CTDSP1 CTD small phosphatase 1 gene DOID:630 genetic disease ISO RGD:1313770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344197 CTDSP1 CTD small phosphatase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12344212 MIR135A-2 microRNA mir-135a-2 gene DOID:9005968 Neuralgia ISO RGD:1607568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31432094 12344236 ZIM2 zinc finger imprinted 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1349311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12344236 ZIM2 zinc finger imprinted 2 gene DOID:630 genetic disease ISO RGD:1349311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344236 ZIM2 zinc finger imprinted 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1349311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12344307 R3HDM2 R3H domain containing 2 gene DOID:630 genetic disease ISO RGD:1605089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344307 R3HDM2 R3H domain containing 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1605089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12344307 R3HDM2 R3H domain containing 2 gene DOID:6846 familial melanoma ISO RGD:1605089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 12344307 R3HDM2 R3H domain containing 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12344358 PSME4 proteasome activator subunit 4 gene DOID:0050545 visceral heterotaxy ISO RGD:1557625 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 12344358 PSME4 proteasome activator subunit 4 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12344358 PSME4 proteasome activator subunit 4 gene DOID:630 genetic disease ISO RGD:1345096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344408 KLK11 kallikrein related peptidase 11 gene DOID:630 genetic disease ISO RGD:1318610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344424 SORL1 sortilin related receptor 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1322123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12344424 SORL1 sortilin related receptor 1 gene DOID:0060224 atrial fibrillation ISO RGD:1322123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12344424 SORL1 sortilin related receptor 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1322123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12344424 SORL1 sortilin related receptor 1 gene DOID:0080690 RASopathy ISO RGD:1322123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12344424 SORL1 sortilin related receptor 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1322123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12344424 SORL1 sortilin related receptor 1 gene DOID:0111364 Alzheimer's disease 9 ISO RGD:1322123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease 9 PMID:28789839 12344424 SORL1 sortilin related receptor 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1322123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12344424 SORL1 sortilin related receptor 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1322123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12344424 SORL1 sortilin related receptor 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1322123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12344424 SORL1 sortilin related receptor 1 gene DOID:10652 Alzheimer's disease ISO RGD:1322123 D RGD:9068941 20200609 RGD PMID:15313836|REF_RGD_ID:1581303 12344424 SORL1 sortilin related receptor 1 gene DOID:13580 cholestasis ISO RGD:1322123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12344424 SORL1 sortilin related receptor 1 gene DOID:5419 schizophrenia ISO RGD:1322123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12344424 SORL1 sortilin related receptor 1 gene DOID:630 genetic disease ISO RGD:1322123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12344424 SORL1 sortilin related receptor 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1322123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30503753 12344424 SORL1 sortilin related receptor 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12344424 SORL1 sortilin related receptor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1322123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 12344424 SORL1 sortilin related receptor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1322123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12344424 SORL1 sortilin related receptor 1 gene DOID:9007661 Dwarfism ISO RGD:1322123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12344476 APOA1 apolipoprotein A1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:735962 D RGD:9068941 20200609 RGD protein: decreased expression: respiratory system fluid/secretion PMID:20463180|REF_RGD_ID:5508222 12344476 APOA1 apolipoprotein A1 gene DOID:0050636 familial visceral amyloidosis ISO RGD:735962 D RGD:7240710 20180130 OMIM 12344476 APOA1 apolipoprotein A1 gene DOID:0050636 familial visceral amyloidosis ISO RGD:735962 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyloidosis, cardiac and cutaneous | ClinVar Annotator: match by term: Familial visceral amyloidosis PMID:10198255|PMID:10487826|PMID:12050338|PMID:1502149|PMID:17303779|PMID:1901417|PMID:20884842|PMID:2108924|PMID:2123470|PMID:21443680|PMID:21820994|PMID:23209431|PMID:23770607|PMID:23806608|PMID:24081495|PMID:25034063|PMID:25741868|PMID:26530418|PMID:26562506|PMID:26605794|PMID:27135400|PMID:27785680|PMID:28492532|PMID:29083407|PMID:29353225|PMID:30184436|PMID:30333156|PMID:3141894|PMID:3142462|PMID:32041611|PMID:32666307|PMID:4304452|PMID:8675681|PMID:9916936 12344476 APOA1 apolipoprotein A1 gene DOID:0050700 cardiomyopathy ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 12344476 APOA1 apolipoprotein A1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12344476 APOA1 apolipoprotein A1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12344476 APOA1 apolipoprotein A1 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:10173 D RGD:9068941 20200609 RGD PMID:26420354|REF_RGD_ID:25671437 12344476 APOA1 apolipoprotein A1 gene DOID:0080322 polycystic kidney disease ISO RGD:736547 D RGD:9068941 20200609 RGD PMID:19637234|REF_RGD_ID:7241572 12344476 APOA1 apolipoprotein A1 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:2130 D RGD:9068941 20200609 RGD mRNA, protein: increased expression:liver, serum (rat) PMID:30187493|REF_RGD_ID:25671434 12344476 APOA1 apolipoprotein A1 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:735962 D RGD:9068941 20200609 RGD human gene in mouse model PMID:24793484|REF_RGD_ID:21408551 12344476 APOA1 apolipoprotein A1 gene DOID:0080690 RASopathy ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12344476 APOA1 apolipoprotein A1 gene DOID:0080957 primary hypoalphalipoproteinemia 1 ISO RGD:735962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 PMID:17303779|PMID:1898657|PMID:1901417|PMID:20884842|PMID:21443680|PMID:21820994|PMID:23209431|PMID:23770607|PMID:23806608|PMID:24081495|PMID:25034063|PMID:25741868|PMID:26530418|PMID:26562506|PMID:26605794|PMID:27135400|PMID:27785680|PMID:28492532|PMID:28870971|PMID:29083407|PMID:29353225|PMID:30184436|PMID:30333156|PMID:32041611|PMID:32666307|PMID:8240372 12344476 APOA1 apolipoprotein A1 gene DOID:0080958 primary hypoalphalipoproteinemia 2 ISO RGD:735962 D RGD:7240710 20180130 OMIM 12344476 APOA1 apolipoprotein A1 gene DOID:0080958 primary hypoalphalipoproteinemia 2 ISO RGD:735962 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Apolipoprotein A-I deficiency | ClinVar Annotator: match by term: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2 | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2, intermediate PMID:1901417|PMID:2108924|PMID:2123470|PMID:23209431|PMID:2506176|PMID:2512329|PMID:25741868|PMID:26530418|PMID:28492532|PMID:29083407|PMID:29353225|PMID:3141894|PMID:3142462|PMID:4304452|PMID:6800349|PMID:7981179|PMID:9514407|PMID:9931341 12344476 APOA1 apolipoprotein A1 gene DOID:0090028 familial isolated deficiency of vitamin E ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18458655 12344476 APOA1 apolipoprotein A1 gene DOID:0110802 hereditary spastic paraplegia 50 ISO RGD:735962 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 PMID:19559397 12344476 APOA1 apolipoprotein A1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12344476 APOA1 apolipoprotein A1 gene DOID:0111123 nephronophthisis 15 ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 12344476 APOA1 apolipoprotein A1 gene DOID:0111971 immunodeficiency 18 ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12344476 APOA1 apolipoprotein A1 gene DOID:0111972 immunodeficiency 19 ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12344476 APOA1 apolipoprotein A1 gene DOID:0111973 immunodeficiency 17 ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12344476 APOA1 apolipoprotein A1 gene DOID:1059 intellectual disability ISO RGD:735962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12344476 APOA1 apolipoprotein A1 gene DOID:10652 Alzheimer's disease resistance ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:19863188|REF_RGD_ID:5508218 12344476 APOA1 apolipoprotein A1 gene DOID:10652 Alzheimer's disease resistance ISO RGD:735962 D RGD:9068941 20200609 RGD DNA: : :transgenic model PMID:20847045|REF_RGD_ID:5508212 12344476 APOA1 apolipoprotein A1 gene DOID:10763 hypertension ISO RGD:2130 D RGD:9068941 20200609 RGD PMID:23401751|REF_RGD_ID:7241867 12344476 APOA1 apolipoprotein A1 gene DOID:10763 hypertension ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18224302 12344476 APOA1 apolipoprotein A1 gene DOID:10976 membranous glomerulonephritis ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7900854 12344476 APOA1 apolipoprotein A1 gene DOID:11446 sciatic neuropathy ISO RGD:2130 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve: PMID:2493483|REF_RGD_ID:7495790 12344476 APOA1 apolipoprotein A1 gene DOID:11512 Budd-Chiari syndrome ISO RGD:735962 D RGD:9068941 20200609 RGD protein: decreased expression: plasma (human) PMID:21145806|REF_RGD_ID:25671435 12344476 APOA1 apolipoprotein A1 gene DOID:1184 nephrotic syndrome ISO RGD:2130 D RGD:9068941 20200609 RGD PMID:18614621|REF_RGD_ID:2313652 12344476 APOA1 apolipoprotein A1 gene DOID:13241 Behcet's disease ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12074830 12344476 APOA1 apolipoprotein A1 gene DOID:1387 hypolipoproteinemia ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:9931341|REF_RGD_ID:734583 12344476 APOA1 apolipoprotein A1 gene DOID:1388 Tangier disease ISO RGD:735962 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Tangier disease PMID:25341944|PMID:25741868|PMID:28492532|PMID:7583566|PMID:7981179|PMID:8282791 12344476 APOA1 apolipoprotein A1 gene DOID:1391 Norum disease ISO RGD:735962 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: APOLIPOPROTEIN A-I (GIESSEN) PMID:28492532|PMID:6489332|PMID:7082443 12344476 APOA1 apolipoprotein A1 gene DOID:14330 Parkinson's disease ISO RGD:735962 D RGD:9068941 20200609 RGD protein: altered expression: cerebrospinal fluid: 2 different isoforms PMID:20085559|REF_RGD_ID:5508216 12344476 APOA1 apolipoprotein A1 gene DOID:1470 major depressive disorder susceptibility ISO RGD:2130 D RGD:9068941 20200609 RGD protein: increased expression: cerebrospinal fluid PMID:20580919|REF_RGD_ID:5128563 12344476 APOA1 apolipoprotein A1 gene DOID:1790 malignant mesothelioma ISO RGD:735962 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 12344476 APOA1 apolipoprotein A1 gene DOID:1793 pancreatic cancer ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17312459|REF_RGD_ID:2325758 12344476 APOA1 apolipoprotein A1 gene DOID:1793 pancreatic cancer ISO RGD:735962 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:17332923|REF_RGD_ID:2325757 12344476 APOA1 apolipoprotein A1 gene DOID:1883 hepatitis C severity ISO RGD:735962 D RGD:9068941 20200609 RGD associated with liver cirrhosis; protein:decreased expression:serum (human) PMID:19818291|REF_RGD_ID:25671441 12344476 APOA1 apolipoprotein A1 gene DOID:1936 atherosclerosis ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:23078847|REF_RGD_ID:7241852 12344476 APOA1 apolipoprotein A1 gene DOID:1936 atherosclerosis ISO RGD:735962 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33861588 12344476 APOA1 apolipoprotein A1 gene DOID:1936 atherosclerosis treatment ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:18287885|REF_RGD_ID:7241575 12344476 APOA1 apolipoprotein A1 gene DOID:2349 arteriosclerosis treatment ISO RGD:2130 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:20639628|REF_RGD_ID:5508221 12344476 APOA1 apolipoprotein A1 gene DOID:2377 multiple sclerosis ISO RGD:735962 D RGD:9068941 20200609 RGD protein:increased expression: serum PMID:20350318|REF_RGD_ID:5508215 12344476 APOA1 apolipoprotein A1 gene DOID:2671 transitional cell carcinoma ISO RGD:2130 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:19399409|REF_RGD_ID:2325183 12344476 APOA1 apolipoprotein A1 gene DOID:2671 transitional cell carcinoma severity ISO RGD:735962 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:21496341|REF_RGD_ID:7241214 12344476 APOA1 apolipoprotein A1 gene DOID:299 adenocarcinoma ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 12344476 APOA1 apolipoprotein A1 gene DOID:3146 lipid metabolism disorder ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6816881 12344476 APOA1 apolipoprotein A1 gene DOID:3393 coronary artery disease ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27135400 12344476 APOA1 apolipoprotein A1 gene DOID:3393 coronary artery disease ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:2128269|REF_RGD_ID:1601188 12344476 APOA1 apolipoprotein A1 gene DOID:3770 pulmonary fibrosis ISO RGD:10173 D RGD:9068941 20200609 RGD protein:decreased expression: respiratory system fluid/secretion PMID:20463180|REF_RGD_ID:5508222 12344476 APOA1 apolipoprotein A1 gene DOID:3910 lung adenocarcinoma ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 12344476 APOA1 apolipoprotein A1 gene DOID:4947 cholangiocarcinoma ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19486127|REF_RGD_ID:2325756 12344476 APOA1 apolipoprotein A1 gene DOID:5082 liver cirrhosis ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:27106140|REF_RGD_ID:25671439 12344476 APOA1 apolipoprotein A1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12646808 12344476 APOA1 apolipoprotein A1 gene DOID:5409 lung small cell carcinoma treatment ISO RGD:735962 D RGD:9068941 20220908 RGD PMID:26996551|REF_RGD_ID:11561502 12344476 APOA1 apolipoprotein A1 gene DOID:5844 myocardial infarction ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:20176799|REF_RGD_ID:2325759 12344476 APOA1 apolipoprotein A1 gene DOID:5844 myocardial infarction no_association ISO RGD:735962 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:10428310|REF_RGD_ID:1578442 12344476 APOA1 apolipoprotein A1 gene DOID:6000 congestive heart failure ISO RGD:735962 D RGD:9068941 20200609 RGD protein: decreased expression: serum PMID:17517342|REF_RGD_ID:5508219 12344476 APOA1 apolipoprotein A1 gene DOID:630 genetic disease ISO RGD:735962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344476 APOA1 apolipoprotein A1 gene DOID:684 hepatocellular carcinoma ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12344476 APOA1 apolipoprotein A1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:23935864|REF_RGD_ID:25671438 12344476 APOA1 apolipoprotein A1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735962 D RGD:9068941 20220908 RGD associated with hepatitis B; PMID:31211449|REF_RGD_ID:153350082 12344476 APOA1 apolipoprotein A1 gene DOID:687 hepatoblastoma ISO RGD:735962 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:serum (human) PMID:27974108|REF_RGD_ID:25671440 12344476 APOA1 apolipoprotein A1 gene DOID:783 end stage renal disease ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression:blood PMID:22515595|REF_RGD_ID:7241208 12344476 APOA1 apolipoprotein A1 gene DOID:783 end stage renal disease ISO RGD:735962 D RGD:9068941 20200609 RGD protein:increased expression, increased glycation:plasma PMID:18079481|REF_RGD_ID:7241576 12344476 APOA1 apolipoprotein A1 gene DOID:783 end stage renal disease treatment ISO RGD:10173 D RGD:9068941 20200609 RGD associated with Hyperlipidemias PMID:20488818|REF_RGD_ID:7241571 12344476 APOA1 apolipoprotein A1 gene DOID:784 chronic kidney disease ISO RGD:735962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 12344476 APOA1 apolipoprotein A1 gene DOID:7998 hyperthyroidism ISO RGD:2130 D RGD:9068941 20200609 RGD PMID:1466661|REF_RGD_ID:1599158 12344476 APOA1 apolipoprotein A1 gene DOID:9000197 Edema ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20972769 12344476 APOA1 apolipoprotein A1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696|PMID:19424620 12344476 APOA1 apolipoprotein A1 gene DOID:9000543 Death ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20972769 12344476 APOA1 apolipoprotein A1 gene DOID:9000808 Hypercholesterolemia ISO RGD:735962 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-75G>A, 83C>T (human) PMID:16309370|REF_RGD_ID:1601184 12344476 APOA1 apolipoprotein A1 gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:735962 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy type III PMID:2123470|PMID:25741868|PMID:3142462|PMID:4304452 12344476 APOA1 apolipoprotein A1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2130 D RGD:9068941 20200609 RGD PMID:2123716|REF_RGD_ID:1599161 12344476 APOA1 apolipoprotein A1 gene DOID:9002117 Hypoalphalipoproteinemias ISO RGD:735962 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY PMID:1901417|PMID:2108924|PMID:2123470|PMID:23209431|PMID:25741868|PMID:26530418|PMID:28492532|PMID:29083407|PMID:29353225|PMID:3141894|PMID:3142462|PMID:4304452 12344476 APOA1 apolipoprotein A1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:9829487|REF_RGD_ID:2313960 12344476 APOA1 apolipoprotein A1 gene DOID:9002513 Hypoproteinemia ISO RGD:2130 D RGD:9068941 20200609 RGD PMID:2123716|REF_RGD_ID:1599161 12344476 APOA1 apolipoprotein A1 gene DOID:9002669 Hypoxia ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18258771 12344476 APOA1 apolipoprotein A1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:735962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12344476 APOA1 apolipoprotein A1 gene DOID:9004283 Transplant Rejection ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:21730889|REF_RGD_ID:7241209 12344476 APOA1 apolipoprotein A1 gene DOID:9004484 Sepsis treatment ISO RGD:2130 D RGD:9068941 20200609 RGD PMID:19561306|REF_RGD_ID:7241869 12344476 APOA1 apolipoprotein A1 gene DOID:9004492 Familial Amyloidosis ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:22495291|REF_RGD_ID:7241855 12344476 APOA1 apolipoprotein A1 gene DOID:9004581 Pediatric Obesity ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25137265 12344476 APOA1 apolipoprotein A1 gene DOID:9004610 Acute Lung Injury ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20972769 12344476 APOA1 apolipoprotein A1 gene DOID:9005172 Lung Neoplasms ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19180532 12344476 APOA1 apolipoprotein A1 gene DOID:9005236 Drug Eruptions ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21055120 12344476 APOA1 apolipoprotein A1 gene DOID:9005372 Inflammation ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20972769 12344476 APOA1 apolipoprotein A1 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735962 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-75G>A (human) PMID:9699897|REF_RGD_ID:1601186 12344476 APOA1 apolipoprotein A1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2130 D RGD:9068941 20200609 RGD PMID:17488882|REF_RGD_ID:7241577 12344476 APOA1 apolipoprotein A1 gene DOID:9005930 Endotoxemia treatment ISO RGD:2130 D RGD:9068941 20200609 RGD PMID:23227448|REF_RGD_ID:7241868 12344476 APOA1 apolipoprotein A1 gene DOID:9005930 Endotoxemia treatment ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:18593575|REF_RGD_ID:7241573 12344476 APOA1 apolipoprotein A1 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:18535924|REF_RGD_ID:7241574 12344476 APOA1 apolipoprotein A1 gene DOID:9006599 Hypertriglyceridemia no_association ISO RGD:735962 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-75G>A PMID:7910586|REF_RGD_ID:1601187 12344476 APOA1 apolipoprotein A1 gene DOID:9006646 Metabolic Syndrome ISO RGD:735962 D RGD:9068941 20200609 RGD DNA: polymorphism: :G2, G3 and G5 PMID:21410987|REF_RGD_ID:5508220 12344476 APOA1 apolipoprotein A1 gene DOID:9006646 Metabolic Syndrome ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:17217166|REF_RGD_ID:1601183 12344476 APOA1 apolipoprotein A1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18332268 12344476 APOA1 apolipoprotein A1 gene DOID:9007096 Stroke ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19433014 12344476 APOA1 apolipoprotein A1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 12344476 APOA1 apolipoprotein A1 gene DOID:9007389 Acute Tubulointerstitial Nephritis ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:22659101|REF_RGD_ID:7241207 12344476 APOA1 apolipoprotein A1 gene DOID:9007661 Dwarfism ISO RGD:735962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12344476 APOA1 apolipoprotein A1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:735962 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver, serum (human) PMID:27015844|REF_RGD_ID:25671432 12344476 APOA1 apolipoprotein A1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression PMID:21726101|REF_RGD_ID:5508214 12344476 APOA1 apolipoprotein A1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:25115832|REF_RGD_ID:25671433 12344476 APOA1 apolipoprotein A1 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:20131231|REF_RGD_ID:7241864 12344476 APOA1 apolipoprotein A1 gene DOID:9074 systemic lupus erythematosus treatment ISO RGD:10173 D RGD:9068941 20200609 RGD PMID:20482780|REF_RGD_ID:7241863 12344476 APOA1 apolipoprotein A1 gene DOID:9246 cerebral amyloid angiopathy ISO RGD:10173 D RGD:9068941 20200609 RGD PMID:20739292|REF_RGD_ID:5508213 12344476 APOA1 apolipoprotein A1 gene DOID:9282 ocular hypertension ISO RGD:2130 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18626730|REF_RGD_ID:2303613 12344476 APOA1 apolipoprotein A1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735962 D RGD:9068941 20200609 RGD protein:altered localization:plasma lipoprotein particle PMID:9649952|REF_RGD_ID:2313961 12344476 APOA1 apolipoprotein A1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735962 D RGD:9068941 20200609 RGD protein:increased expression, increased glycation:plasma PMID:18079481|REF_RGD_ID:7241576 12344476 APOA1 apolipoprotein A1 gene DOID:9452 fatty liver disease treatment ISO RGD:2130 D RGD:9068941 20200609 RGD PMID:30231880|REF_RGD_ID:25671436 12344476 APOA1 apolipoprotein A1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735962 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:9578960|REF_RGD_ID:2313962 12344476 APOA1 apolipoprotein A1 gene DOID:9970 obesity ISO RGD:10173 D RGD:9068941 20200609 RGD PMID:9933608|REF_RGD_ID:2313959 12344476 APOA1 apolipoprotein A1 gene DOID:9970 obesity ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression PMID:12725089|REF_RGD_ID:1601185 12344483 WWC2 WW and C2 domain containing 2 gene DOID:2843 long QT syndrome ISO RGD:1605043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12344483 WWC2 WW and C2 domain containing 2 gene DOID:630 genetic disease ISO RGD:1605043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344513 OR4X2 olfactory receptor family 4 subfamily X member 2 gene DOID:1059 intellectual disability ISO RGD:1353376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12344513 OR4X2 olfactory receptor family 4 subfamily X member 2 gene DOID:630 genetic disease ISO RGD:1353376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344516 VIP vasoactive intestinal peptide gene DOID:0060180 colitis ISO RGD:732375 D RGD:9068941 20200609 RGD associated with Gram-Negative Bacterial Infections PMID:19661153|REF_RGD_ID:5685605 12344516 VIP vasoactive intestinal peptide gene DOID:0080855 Parkinsonism ISO RGD:621647 D RGD:9068941 20200609 RGD PMID:15808913|REF_RGD_ID:5685601 12344516 VIP vasoactive intestinal peptide gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1348931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:28492532 12344516 VIP vasoactive intestinal peptide gene DOID:1059 intellectual disability ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11357950 12344516 VIP vasoactive intestinal peptide gene DOID:11832 visual epilepsy ISO RGD:621647 D RGD:9068941 20200609 RGD PMID:20369387|REF_RGD_ID:5685634 12344516 VIP vasoactive intestinal peptide gene DOID:12849 autistic disorder ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17521630 12344516 VIP vasoactive intestinal peptide gene DOID:12894 Sjogren's syndrome ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:22059987|REF_RGD_ID:5685375 12344516 VIP vasoactive intestinal peptide gene DOID:13141 uveitis ISO RGD:621647 D RGD:9068941 20200609 RGD PMID:19232006|REF_RGD_ID:4889998 12344516 VIP vasoactive intestinal peptide gene DOID:13406 pulmonary sarcoidosis ISO RGD:1348931 D RGD:9068941 20200609 RGD PMID:20442436|REF_RGD_ID:5685623 12344516 VIP vasoactive intestinal peptide gene DOID:14250 Down syndrome ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16289943 12344516 VIP vasoactive intestinal peptide gene DOID:14250 Down syndrome ISO RGD:732375 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:19037032|REF_RGD_ID:5685613 12344516 VIP vasoactive intestinal peptide gene DOID:14330 Parkinson's disease ISO RGD:1348931 D RGD:9068941 20200609 RGD PMID:19476518|REF_RGD_ID:5685606 12344516 VIP vasoactive intestinal peptide gene DOID:14557 primary pulmonary hypertension ISO RGD:732375 D RGD:9068941 20220825 MouseDO OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 12344516 VIP vasoactive intestinal peptide gene DOID:1561 cognitive disorder ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8208360 12344516 VIP vasoactive intestinal peptide gene DOID:1875 impotence ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10233493 12344516 VIP vasoactive intestinal peptide gene DOID:2316 brain ischemia ISO RGD:621647 D RGD:9068941 20200609 RGD PMID:18158987|REF_RGD_ID:5685617 12344516 VIP vasoactive intestinal peptide gene DOID:2841 asthma ISO RGD:621647 D RGD:9068941 20200609 RGD PMID:21419198|REF_RGD_ID:5685381 12344516 VIP vasoactive intestinal peptide gene DOID:2841 asthma ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:16782752|REF_RGD_ID:5685620 12344516 VIP vasoactive intestinal peptide gene DOID:289 endometriosis ISO RGD:1348931 D RGD:9068941 20200609 RGD PMID:18928861|REF_RGD_ID:5685615 12344516 VIP vasoactive intestinal peptide gene DOID:365 bladder disease ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18299998 12344516 VIP vasoactive intestinal peptide gene DOID:4483 rhinitis ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12746121|PMID:14680090 12344516 VIP vasoactive intestinal peptide gene DOID:4677 keratitis ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:21666233|REF_RGD_ID:5685380 12344516 VIP vasoactive intestinal peptide gene DOID:630 genetic disease ISO RGD:1348931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344516 VIP vasoactive intestinal peptide gene DOID:6432 pulmonary hypertension ISO RGD:621647 D RGD:9068941 20200609 RGD PMID:22140628|REF_RGD_ID:5685374 12344516 VIP vasoactive intestinal peptide gene DOID:6432 pulmonary hypertension ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:22140628|REF_RGD_ID:5685374 12344516 VIP vasoactive intestinal peptide gene DOID:7147 ankylosing spondylitis ISO RGD:1348931 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20340024|REF_RGD_ID:5685387 12344516 VIP vasoactive intestinal peptide gene DOID:824 periodontitis ISO RGD:621647 D RGD:9068941 20200609 RGD PMID:19792856|REF_RGD_ID:5685624 12344516 VIP vasoactive intestinal peptide gene DOID:8577 ulcerative colitis severity ISO RGD:1348931 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon PMID:22143367|REF_RGD_ID:5685619 12344516 VIP vasoactive intestinal peptide gene DOID:9000197 Edema ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7508328 12344516 VIP vasoactive intestinal peptide gene DOID:9000641 Pain ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9920454 12344516 VIP vasoactive intestinal peptide gene DOID:9000722 Animal Hepatitis ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:19222997|REF_RGD_ID:5685610 12344516 VIP vasoactive intestinal peptide gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15127121|PMID:15144609 12344516 VIP vasoactive intestinal peptide gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19189304 12344516 VIP vasoactive intestinal peptide gene DOID:9001048 Nociceptive Pain ISO RGD:621647 D RGD:9068941 20200609 RGD PMID:19467283|REF_RGD_ID:5685608 12344516 VIP vasoactive intestinal peptide gene DOID:9002211 Hyperalgesia ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12787826 12344516 VIP vasoactive intestinal peptide gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19189304 12344516 VIP vasoactive intestinal peptide gene DOID:9002457 Experimental Arthritis ISO RGD:621647 D RGD:9068941 20200609 RGD PMID:19055696|REF_RGD_ID:5685612 12344516 VIP vasoactive intestinal peptide gene DOID:9002457 Experimental Arthritis ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:21998117|REF_RGD_ID:5685376 12344516 VIP vasoactive intestinal peptide gene DOID:9002554 Tachycardia ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3261545 12344516 VIP vasoactive intestinal peptide gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:20978211|REF_RGD_ID:5685386 12344516 VIP vasoactive intestinal peptide gene DOID:9004009 Reperfusion Injury ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:21693218|REF_RGD_ID:5685379 12344516 VIP vasoactive intestinal peptide gene DOID:9004610 Acute Lung Injury ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8643465 12344516 VIP vasoactive intestinal peptide gene DOID:9004610 Acute Lung Injury ISO RGD:621647 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:20441697|REF_RGD_ID:4145303 12344516 VIP vasoactive intestinal peptide gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:21129425|REF_RGD_ID:5685622 12344516 VIP vasoactive intestinal peptide gene DOID:9006024 Hypotension ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9881641 12344516 VIP vasoactive intestinal peptide gene DOID:9007402 Gliosis ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:21281617|REF_RGD_ID:5685382 12344516 VIP vasoactive intestinal peptide gene DOID:9007763 Flushing ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10233493 12344516 VIP vasoactive intestinal peptide gene DOID:9008114 Helicobacter Infections ISO RGD:732375 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, stomach PMID:19906107|REF_RGD_ID:5685602 12344516 VIP vasoactive intestinal peptide gene DOID:9744 type 1 diabetes mellitus ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:20309012|REF_RGD_ID:5685388 12344531 RHBDD3 rhomboid domain containing 3 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1323487 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 12344531 RHBDD3 rhomboid domain containing 3 gene DOID:303 substance-related disorder ISO RGD:1323487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12344531 RHBDD3 rhomboid domain containing 3 gene DOID:630 genetic disease ISO RGD:1323487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344531 RHBDD3 rhomboid domain containing 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1323487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 12344554 SMC3 structural maintenance of chromosomes 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1354451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12344554 SMC3 structural maintenance of chromosomes 3 gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1354451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 12344554 SMC3 structural maintenance of chromosomes 3 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:1354451 D RGD:7240710 20190424 OMIM 12344554 SMC3 structural maintenance of chromosomes 3 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:1354451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:17576681|PMID:18414213|PMID:24088041|PMID:25125236|PMID:25574841|PMID:25655089|PMID:25741868|PMID:25741869|PMID:26467025|PMID:26633542|PMID:26633545|PMID:28492532|PMID:30158690|PMID:31334757|PMID:9536098 12344554 SMC3 structural maintenance of chromosomes 3 gene DOID:1059 intellectual disability ISO RGD:1354451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26633542|PMID:28492532 12344554 SMC3 structural maintenance of chromosomes 3 gene DOID:11725 Cornelia de Lange syndrome ISO RGD:1354451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: De Lange syndrome PMID:18414213|PMID:25741868|PMID:28492532 12344554 SMC3 structural maintenance of chromosomes 3 gene DOID:630 genetic disease ISO RGD:1354451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:19344873|PMID:21139566|PMID:25125236|PMID:25655089|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28286005|PMID:28492532|PMID:28607419 12344554 SMC3 structural maintenance of chromosomes 3 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1354451 D RGD:9068941 20230223 RGD mRNA:increased editing:cds:p.K96R,p.Q103R(human) PMID:29996118|REF_RGD_ID:156430111 12344554 SMC3 structural maintenance of chromosomes 3 gene DOID:8692 myeloid leukemia ISO RGD:1354451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23955599 12344554 SMC3 structural maintenance of chromosomes 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12344588 DHRS9 dehydrogenase/reductase 9 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736293 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12344588 DHRS9 dehydrogenase/reductase 9 gene DOID:630 genetic disease ISO RGD:736293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344588 DHRS9 dehydrogenase/reductase 9 gene DOID:9003996 Birth Weight ISO RGD:736293 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34200176 12344597 ATP10A ATPase phospholipid transporting 10A (putative) gene DOID:0060041 autism spectrum disorder ISO RGD:1314601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545|PMID:30504930 12344597 ATP10A ATPase phospholipid transporting 10A (putative) gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1314601 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 12344597 ATP10A ATPase phospholipid transporting 10A (putative) gene DOID:11983 Prader-Willi syndrome ISO RGD:1314601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 12344597 ATP10A ATPase phospholipid transporting 10A (putative) gene DOID:12849 autistic disorder ISO RGD:1314601 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 12344597 ATP10A ATPase phospholipid transporting 10A (putative) gene DOID:1932 Angelman syndrome ISO RGD:1314601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:23495136|PMID:24088041|PMID:25099823|PMID:25212744|PMID:25884337|PMID:26633545|PMID:28492532 12344597 ATP10A ATPase phospholipid transporting 10A (putative) gene DOID:5419 schizophrenia ISO RGD:1314601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12344597 ATP10A ATPase phospholipid transporting 10A (putative) gene DOID:630 genetic disease ISO RGD:1314601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344597 ATP10A ATPase phospholipid transporting 10A (putative) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12344597 ATP10A ATPase phospholipid transporting 10A (putative) gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:1314601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:11198279|PMID:26950270|PMID:28053010|PMID:28492532 12344622 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1354126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12344622 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1354126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12344622 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:1596 depressive disorder ISO RGD:1354126 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21871532 12344622 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:1596 depressive disorder susceptibility ISO RGD:732064 D RGD:9068941 20200609 RGD PMID:16906152|REF_RGD_ID:9831184 12344622 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:1826 epilepsy susceptibility ISO RGD:732064 D RGD:9068941 20200609 RGD PMID:15175651|REF_RGD_ID:9831121 12344622 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:224 transient cerebral ischemia ISO RGD:621448 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:25062759|REF_RGD_ID:9831122 12344622 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:224 transient cerebral ischemia severity ISO RGD:732064 D RGD:9068941 20200609 RGD PMID:15175651|REF_RGD_ID:9831121 12344622 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:621448 D RGD:9068941 20200609 RGD PMID:24154701|REF_RGD_ID:9831178 12344622 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:2316 brain ischemia ISO RGD:621448 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:14741413|REF_RGD_ID:9831127 12344622 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:5844 myocardial infarction ISO RGD:621448 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle, epicardium, endocardium (rat) PMID:21683547|REF_RGD_ID:9831182 12344622 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:6000 congestive heart failure ISO RGD:621448 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary:mRNA:decreased expression:heart right ventricle (rat) PMID:25016242|REF_RGD_ID:9831185 12344622 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:630 genetic disease ISO RGD:1354126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344622 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:621448 D RGD:9068941 20200609 RGD PMID:22425721|REF_RGD_ID:9831183 12344622 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:9002211 Hyperalgesia ISO RGD:732064 D RGD:9068941 20200609 RGD PMID:16675954|REF_RGD_ID:9831112 12344622 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:621448 D RGD:9068941 20200609 RGD protein:increased expression:endocardium of left ventricle (rat) PMID:23232841|REF_RGD_ID:9831114 12344622 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:9005372 Inflammation ISO RGD:621448 D RGD:9068941 20200609 RGD mRNA:decreased expression:dorsal root ganglia (rat) PMID:22273507|REF_RGD_ID:9831113 12344622 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:621448 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle, epicardium, endocardium (rat) PMID:24705172|REF_RGD_ID:9831164 12344622 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12344653 RNF224 ring finger protein 224 gene DOID:0050777 Joubert syndrome ISO RGD:5132816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12344653 RNF224 ring finger protein 224 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:5132816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12344653 RNF224 ring finger protein 224 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:5132816 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12344653 RNF224 ring finger protein 224 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:5132816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12344653 RNF224 ring finger protein 224 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:5132816 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12344653 RNF224 ring finger protein 224 gene DOID:0081097 Rafiq syndrome ISO RGD:5132816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12344653 RNF224 ring finger protein 224 gene DOID:1826 epilepsy ISO RGD:5132816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12344653 RNF224 ring finger protein 224 gene DOID:630 genetic disease ISO RGD:5132816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344653 RNF224 ring finger protein 224 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:5132816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12344676 LHFPL2 LHFPL tetraspan subfamily member 2 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1320443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 12344676 LHFPL2 LHFPL tetraspan subfamily member 2 gene DOID:0080600 COVID-19 ISO RGD:1320443 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12344676 LHFPL2 LHFPL tetraspan subfamily member 2 gene DOID:12800 mucopolysaccharidosis VI ISO RGD:1320443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 PMID:10036316|PMID:17458871|PMID:18486607|PMID:28492532 12344676 LHFPL2 LHFPL tetraspan subfamily member 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:1320443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 12344676 LHFPL2 LHFPL tetraspan subfamily member 2 gene DOID:630 genetic disease ISO RGD:1320443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344676 LHFPL2 LHFPL tetraspan subfamily member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12344681 RBM7 RNA binding motif protein 7 gene DOID:1059 intellectual disability ISO RGD:1317542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12344681 RBM7 RNA binding motif protein 7 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 12344681 RBM7 RNA binding motif protein 7 gene DOID:630 genetic disease ISO RGD:1317542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344681 RBM7 RNA binding motif protein 7 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1317542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12344690 KRT12 keratin 12 gene DOID:0060451 Meesmann corneal dystrophy ISO RGD:1312464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12344690 KRT12 keratin 12 gene DOID:0080670 Meesmann corneal dystrophy 1 ISO RGD:1312464 D RGD:7240710 20200429 OMIM 12344690 KRT12 keratin 12 gene DOID:0080670 Meesmann corneal dystrophy 1 ISO RGD:1312464 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, Meesmann, 1 PMID:10644419|PMID:22174841|PMID:25741868|PMID:28492532|PMID:9171831|PMID:9399908 12344690 KRT12 keratin 12 gene DOID:2566 corneal dystrophy susceptibility ISO RGD:1312464 D RGD:9068941 20200609 RGD protein:mutations: ; V143L, R135T; Meesmann's corneal dystrophy, OMIM:122100 PMID:9171831|REF_RGD_ID:1600169 12344690 KRT12 keratin 12 gene DOID:630 genetic disease ISO RGD:1312464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20577595|PMID:28492532 12344705 FOXS1 forkhead box S1 gene DOID:630 genetic disease ISO RGD:1321722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344710 P2RY4 pyrimidinergic receptor P2Y4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12344710 P2RY4 pyrimidinergic receptor P2Y4 gene DOID:12849 autistic disorder ISO RGD:731552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12344710 P2RY4 pyrimidinergic receptor P2Y4 gene DOID:1826 epilepsy ISO RGD:731552 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12344710 P2RY4 pyrimidinergic receptor P2Y4 gene DOID:630 genetic disease ISO RGD:731552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344714 BDH2 3-hydroxybutyrate dehydrogenase 2 gene DOID:3633 beta-mannosidosis ISO RGD:1604606 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 12344714 BDH2 3-hydroxybutyrate dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:1604606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344729 H2AB1 H2A.B variant histone 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1346656 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12344729 H2AB1 H2A.B variant histone 1 gene DOID:0050476 Barth syndrome ISO RGD:1346656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12344729 H2AB1 H2A.B variant histone 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1346656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12344729 H2AB1 H2A.B variant histone 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1346656 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12344729 H2AB1 H2A.B variant histone 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1346656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12344729 H2AB1 H2A.B variant histone 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1346656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12344729 H2AB1 H2A.B variant histone 1 gene DOID:12134 factor VIII deficiency ISO RGD:1346656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Factor VIII deficiency, congenital PMID:2105106 12344729 H2AB1 H2A.B variant histone 1 gene DOID:12849 autistic disorder ISO RGD:1346656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12344729 H2AB1 H2A.B variant histone 1 gene DOID:13628 favism ISO RGD:1346656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12344729 H2AB1 H2A.B variant histone 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1346656 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12344729 H2AB1 H2A.B variant histone 1 gene DOID:607 paraplegia ISO RGD:1346656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12344729 H2AB1 H2A.B variant histone 1 gene DOID:630 genetic disease ISO RGD:1346656 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344729 H2AB1 H2A.B variant histone 1 gene DOID:9002720 Splenomegaly ISO RGD:1346656 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12344768 ALB albumin gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12239465 12344768 ALB albumin gene DOID:0050625 biliary tract benign neoplasm disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:20358256|REF_RGD_ID:2325676 12344768 ALB albumin gene DOID:0050782 Zollinger-Ellison syndrome ISO RGD:735404 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:908508|REF_RGD_ID:2325683 12344768 ALB albumin gene DOID:0080000 muscular disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:4126124 12344768 ALB albumin gene DOID:0080600 COVID-19 severity ISO RGD:735404 D RGD:9068941 20200619 RGD PMID:32198776|PMID:32427582|REF_RGD_ID:30296673|REF_RGD_ID:30309200 12344768 ALB albumin gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:735404 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type PMID:2404284|PMID:8347685 12344768 ALB albumin gene DOID:10591 pre-eclampsia severity ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:21923989|REF_RGD_ID:11035264 12344768 ALB albumin gene DOID:1063 interstitial nephritis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10916085|PMID:12217854|PMID:18176075|PMID:23994741 12344768 ALB albumin gene DOID:10763 hypertension ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2526952 12344768 ALB albumin gene DOID:10952 nephritis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:161594|PMID:16326737|PMID:2945356|PMID:3656695|PMID:4065304|PMID:9380243 12344768 ALB albumin gene DOID:10976 membranous glomerulonephritis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11938814|PMID:12776520|PMID:1342223|PMID:15385633|PMID:17622271|PMID:9794552 12344768 ALB albumin gene DOID:112 esophageal varix ISO RGD:735404 D RGD:9068941 20200609 RGD associated with ascites PMID:8664482|REF_RGD_ID:1601159 12344768 ALB albumin gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome severity ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:14555823|REF_RGD_ID:11035280 12344768 ALB albumin gene DOID:11394 adult respiratory distress syndrome ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12394941 12344768 ALB albumin gene DOID:114 heart disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24309158 12344768 ALB albumin gene DOID:114 heart disease disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:15850960|REF_RGD_ID:11036094 12344768 ALB albumin gene DOID:11506 suppurative otitis media ISO RGD:8868064 D RGD:9068941 20200609 RGD PMID:1696441|REF_RGD_ID:11556250 12344768 ALB albumin gene DOID:1168 familial hyperlipidemia ISO RGD:2085 D RGD:9068941 20200609 RGD DNA:mutation PMID:6468510|REF_RGD_ID:1601160 12344768 ALB albumin gene DOID:11713 diabetic angiopathy ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19733855 12344768 ALB albumin gene DOID:11801 protein-energy malnutrition ISO RGD:2085 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:9235366|REF_RGD_ID:11036082 12344768 ALB albumin gene DOID:1184 nephrotic syndrome ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1556257|PMID:17178036 12344768 ALB albumin gene DOID:1184 nephrotic syndrome ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:22203175|REF_RGD_ID:11036090 12344768 ALB albumin gene DOID:1205 allergic disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8431628 12344768 ALB albumin gene DOID:12157 aseptic meningitis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:5108595|PMID:5109917|PMID:5536438 12344768 ALB albumin gene DOID:12236 primary biliary cholangitis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12344768 ALB albumin gene DOID:12351 alcoholic hepatitis severity ISO RGD:735404 D RGD:9068941 20200609 RGD protein:increased expression, modification:urine PMID:29369844|REF_RGD_ID:14694842 12344768 ALB albumin gene DOID:1240 leukemia disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:24182818|REF_RGD_ID:11035296 12344768 ALB albumin gene DOID:12554 hemolytic-uremic syndrome ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6734075 12344768 ALB albumin gene DOID:1287 cardiovascular system disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8431628 12344768 ALB albumin gene DOID:13141 uveitis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1556257 12344768 ALB albumin gene DOID:13576 twin-to-twin transfusion syndrome ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:23208016|REF_RGD_ID:11035270 12344768 ALB albumin gene DOID:13580 cholestasis ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:6431134|REF_RGD_ID:11035297 12344768 ALB albumin gene DOID:13603 obstructive jaundice ISO RGD:2085 D RGD:9068941 20200609 RGD PMID:9161836|REF_RGD_ID:11036102 12344768 ALB albumin gene DOID:13619 extrahepatic cholestasis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12344768 ALB albumin gene DOID:14089 root caries susceptibility ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:17959907|REF_RGD_ID:11035291 12344768 ALB albumin gene DOID:14227 azoospermia ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27289041 12344768 ALB albumin gene DOID:14525 Reye syndrome treatment ISO RGD:2085 D RGD:9068941 20200609 RGD PMID:25162205|REF_RGD_ID:14694843 12344768 ALB albumin gene DOID:1496 echinococcosis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24270252 12344768 ALB albumin gene DOID:1555 urticaria ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8458210 12344768 ALB albumin gene DOID:1558 angioedema ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8458210 12344768 ALB albumin gene DOID:1579 respiratory system disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8431628 12344768 ALB albumin gene DOID:1588 thrombocytopenia ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6734075 12344768 ALB albumin gene DOID:1596 depressive disorder ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9029664 12344768 ALB albumin gene DOID:1793 pancreatic cancer disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:18154768|PMID:20508721|REF_RGD_ID:2325675|REF_RGD_ID:2325678 12344768 ALB albumin gene DOID:1826 epilepsy ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15356194|PMID:17121744 12344768 ALB albumin gene DOID:2237 hepatitis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21851314 12344768 ALB albumin gene DOID:2316 brain ischemia ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16809570 12344768 ALB albumin gene DOID:2527 nephrosis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3301049 12344768 ALB albumin gene DOID:26 pancreas disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17169978 12344768 ALB albumin gene DOID:2855 hyperthyroxinemia susceptibility ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:8048949|REF_RGD_ID:1599027 12344768 ALB albumin gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1556257 12344768 ALB albumin gene DOID:2921 glomerulonephritis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17161813|PMID:17464766|PMID:18462998|PMID:19524415|PMID:3160244|PMID:6343549|PMID:6769622|PMID:8501856 12344768 ALB albumin gene DOID:2983 anuria ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6734075 12344768 ALB albumin gene DOID:3021 acute kidney failure ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:2048579|PMID:21259293|PMID:24361871|PMID:28885000 12344768 ALB albumin gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:22227456|REF_RGD_ID:11036100 12344768 ALB albumin gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:19011933|REF_RGD_ID:2325677 12344768 ALB albumin gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:23778417|REF_RGD_ID:11036091 12344768 ALB albumin gene DOID:3910 lung adenocarcinoma ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 12344768 ALB albumin gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:10776430|PMID:17545000|PMID:20431764|REF_RGD_ID:2325679|REF_RGD_ID:2325680|REF_RGD_ID:2325682 12344768 ALB albumin gene DOID:4989 pancreatitis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17169977 12344768 ALB albumin gene DOID:5082 liver cirrhosis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17977396|PMID:21851314 12344768 ALB albumin gene DOID:5082 liver cirrhosis disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD associated with Head and Neck Neoplasms; PMID:23285146|REF_RGD_ID:11035282 12344768 ALB albumin gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16903978 12344768 ALB albumin gene DOID:552 pneumonia disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:23286966|REF_RGD_ID:11035283 12344768 ALB albumin gene DOID:557 kidney disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316336|PMID:17303580|PMID:20438795|PMID:21338618|PMID:2386429|PMID:24863737|PMID:350256|PMID:7297036 12344768 ALB albumin gene DOID:576 proteinuria ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1011057|PMID:10916085|PMID:12217854|PMID:14514721|PMID:16326737|PMID:18176075|PMID:7288527|PMID:7297036|PMID:839733 12344768 ALB albumin gene DOID:576 proteinuria ISO RGD:735404 D RGD:9068941 20200609 RGD associated with hypertension PMID:8677191|REF_RGD_ID:1601158 12344768 ALB albumin gene DOID:6000 congestive heart failure ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11771600 12344768 ALB albumin gene DOID:6000 congestive heart failure disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:22158777|REF_RGD_ID:11036096 12344768 ALB albumin gene DOID:620 blood protein disease ISO RGD:735404 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D293G,K198I(human) PMID:20603593|REF_RGD_ID:11035265 12344768 ALB albumin gene DOID:6271 gastric cardia adenocarcinoma disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:15585392|REF_RGD_ID:11035298 12344768 ALB albumin gene DOID:630 genetic disease ISO RGD:735404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344768 ALB albumin gene DOID:684 hepatocellular carcinoma ISO RGD:735404 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 12344768 ALB albumin gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:735404 D RGD:9068941 20200609 RGD associated with hepatitis C;protein:decreased expression:serum PMID:29040987|REF_RGD_ID:14694841 12344768 ALB albumin gene DOID:783 end stage renal disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11938814 12344768 ALB albumin gene DOID:783 end stage renal disease disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:11849406|REF_RGD_ID:11036089 12344768 ALB albumin gene DOID:8577 ulcerative colitis ISO RGD:735404 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 12344768 ALB albumin gene DOID:8893 psoriasis ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:22607558|REF_RGD_ID:6483512 12344768 ALB albumin gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:6683982|REF_RGD_ID:11036083 12344768 ALB albumin gene DOID:9000046 Poisoning ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10511253 12344768 ALB albumin gene DOID:9000058 Keloid ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12344768 ALB albumin gene DOID:9000217 Stomach Neoplasms ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 12344768 ALB albumin gene DOID:9000310 Lung Injury ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30953400 12344768 ALB albumin gene DOID:9000568 Analbuminemia ISO RGD:735404 D RGD:7240710 20180130 OMIM 12344768 ALB albumin gene DOID:9000568 Analbuminemia ISO RGD:735404 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Analbuminemia | ClinVar Annotator: match by term: Analbuminemia Baghdad PMID:11781148|PMID:12028999|PMID:15300429|PMID:15996651|PMID:16183048|PMID:17952464|PMID:18459107|PMID:18602380|PMID:18791744|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29981851|PMID:3353369|PMID:7937781|PMID:8134387|PMID:9266687 12344768 ALB albumin gene DOID:9000641 Pain ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:4126124 12344768 ALB albumin gene DOID:9000784 Fibrosis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24309158 12344768 ALB albumin gene DOID:9000790 Postoperative Complications spontaneous ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:23225108|REF_RGD_ID:11035295 12344768 ALB albumin gene DOID:9000998 Brain Injuries ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17188501|PMID:7909931 12344768 ALB albumin gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:735404 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12344768 ALB albumin gene DOID:9001361 Pancreatic Fistula spontaneous ISO RGD:735404 D RGD:9068941 20200609 RGD associated with Postoperative Complications; PMID:23225108|REF_RGD_ID:11035295 12344768 ALB albumin gene DOID:9001542 Albuminuria ISO RGD:2085 D RGD:9068941 20200609 RGD associated with hypertension PMID:15102963|REF_RGD_ID:1601157 12344768 ALB albumin gene DOID:9001542 Albuminuria ISO RGD:735404 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:19414946|REF_RGD_ID:2306884 12344768 ALB albumin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16642209|PMID:17963606|PMID:21163135 12344768 ALB albumin gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2085 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 12344768 ALB albumin gene DOID:9001686 Acute Coronary Syndrome treatment ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:20716836|REF_RGD_ID:11036086 12344768 ALB albumin gene DOID:9001986 Familial Dysalbuminemic Hyperthyroxinemia ISO RGD:735404 D RGD:7240710 20180130 OMIM 12344768 ALB albumin gene DOID:9001986 Familial Dysalbuminemic Hyperthyroxinemia ISO RGD:735404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EUTHYROID HYPERTHYROXINEMIA 1 | ClinVar Annotator: match by term: Hyperthyroxinemia, dysalbuminemic | ClinVar Annotator: match by term: Hyperthyroxinemia, familial dysalbuminemic PMID:12099390|PMID:12743361|PMID:15251607|PMID:18029235|PMID:1859851|PMID:19336879|PMID:1946412|PMID:2104980|PMID:22230555|PMID:2226433|PMID:2247440|PMID:2304452|PMID:2339130|PMID:25741868|PMID:26169058|PMID:28492532|PMID:2901102|PMID:29133890|PMID:29676214|PMID:3338164|PMID:3479777|PMID:3780972|PMID:5926635|PMID:683332|PMID:8022807|PMID:8048949|PMID:8064810|PMID:9329347|PMID:9589637 12344768 ALB albumin gene DOID:9001986 Familial Dysalbuminemic Hyperthyroxinemia severity ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:19844712|REF_RGD_ID:11035292 12344768 ALB albumin gene DOID:9002055 Chronic Allograft Nephropathy disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:24370342|REF_RGD_ID:11035281 12344768 ALB albumin gene DOID:9002165 Diabetic Nephropathies ISO RGD:2085 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19397971|REF_RGD_ID:2306885 12344768 ALB albumin gene DOID:9002165 Diabetic Nephropathies ISO RGD:2085 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:urine PMID:21441310|REF_RGD_ID:5135032 12344768 ALB albumin gene DOID:9002165 Diabetic Nephropathies ISO RGD:2085 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X;protein:increased expression:urine PMID:19424163|REF_RGD_ID:2306882 12344768 ALB albumin gene DOID:9002165 Diabetic Nephropathies ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16380483 12344768 ALB albumin gene DOID:9002165 Diabetic Nephropathies ISO RGD:735404 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:urine PMID:19246226|REF_RGD_ID:2306886 12344768 ALB albumin gene DOID:9002457 Experimental Arthritis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20472598 12344768 ALB albumin gene DOID:9002513 Hypoproteinemia ISO RGD:2085 D RGD:9068941 20200609 RGD PMID:1690892|REF_RGD_ID:734959 12344768 ALB albumin gene DOID:9002513 Hypoproteinemia susceptibility ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:7937781|REF_RGD_ID:1599028 12344768 ALB albumin gene DOID:9002605 Delayed Hypersensitivity ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19376187 12344768 ALB albumin gene DOID:9003284 HIV Seropositivity ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17209195 12344768 ALB albumin gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19389874 12344768 ALB albumin gene DOID:9004009 Reperfusion Injury ISO RGD:2085 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:20193666|REF_RGD_ID:2325686 12344768 ALB albumin gene DOID:9004250 Hepatic Insufficiency ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12344768 ALB albumin gene DOID:9004484 Sepsis disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:22801198|REF_RGD_ID:11036079 12344768 ALB albumin gene DOID:9004590 Acute Liver Failure ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16750869|PMID:18609519 12344768 ALB albumin gene DOID:9004610 Acute Lung Injury ISO RGD:2085 D RGD:9068941 20200609 RGD PMID:22592748|REF_RGD_ID:6483494 12344768 ALB albumin gene DOID:9005369 Hepatomegaly ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12344768 ALB albumin gene DOID:9005463 Occupational Diseases ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23791970 12344768 ALB albumin gene DOID:9005474 Experimental Sarcoma ISO RGD:10136 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver,serum: PMID:1900492|REF_RGD_ID:11035284 12344768 ALB albumin gene DOID:9005818 Serum Sickness ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:350256|PMID:9380243 12344768 ALB albumin gene DOID:9006024 Hypotension ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11229087|PMID:4463119 12344768 ALB albumin gene DOID:9006205 Animal Disease Models ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16642209|PMID:17963606 12344768 ALB albumin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24361871|PMID:28885000 12344768 ALB albumin gene DOID:9007096 Stroke ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14514741|PMID:16174931|PMID:16809570|PMID:17270091 12344768 ALB albumin gene DOID:9007096 Stroke disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:8291969|REF_RGD_ID:11036080 12344768 ALB albumin gene DOID:9007271 Hypoalbuminemia ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10337936 12344768 ALB albumin gene DOID:9007271 Hypoalbuminemia treatment ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:9034259|REF_RGD_ID:11035279 12344768 ALB albumin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18779383|PMID:22310181 12344768 ALB albumin gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:10136 D RGD:9068941 20200609 RGD PMID:27567545|REF_RGD_ID:14694844 12344768 ALB albumin gene DOID:9007614 Paroxysmal Atrial Fibrillation ISO RGD:735404 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:16869456|REF_RGD_ID:11036095 12344768 ALB albumin gene DOID:9007730 Burns disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:23917657|REF_RGD_ID:11036092 12344768 ALB albumin gene DOID:9007787 Carcinoid Tumor ISO RGD:735404 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:975003|REF_RGD_ID:11036087 12344768 ALB albumin gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9572063 12344768 ALB albumin gene DOID:9008261 Chemically-Induced Disorders ISO RGD:735404 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 12344768 ALB albumin gene DOID:9008386 Hydrops Fetalis disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:17195148|REF_RGD_ID:11036098 12344768 ALB albumin gene DOID:9008443 Colorectal Neoplasms disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:16965244|REF_RGD_ID:11035272 12344768 ALB albumin gene DOID:936 brain disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15923801 12344768 ALB albumin gene DOID:9538 multiple myeloma disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:17096887|REF_RGD_ID:11035276 12344768 ALB albumin gene DOID:9675 pulmonary emphysema ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:24365562|REF_RGD_ID:11035274 12344792 CPT1A carnitine palmitoyltransferase 1A gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:735945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 12344792 CPT1A carnitine palmitoyltransferase 1A gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:10390 D RGD:9068941 20200609 RGD PMID:31211621|REF_RGD_ID:14747028 12344792 CPT1A carnitine palmitoyltransferase 1A gene DOID:0090129 carnitine palmitoyltransferase I deficiency ISO RGD:735945 D RGD:7240710 20180130 OMIM 12344792 CPT1A carnitine palmitoyltransferase 1A gene DOID:0090129 carnitine palmitoyltransferase I deficiency ISO RGD:735945 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency PMID:11350182|PMID:11350183|PMID:11441142|PMID:12111367|PMID:12189492|PMID:12351641|PMID:14517221|PMID:15110323|PMID:16146704|PMID:16169268|PMID:16199547|PMID:16958601|PMID:17576681|PMID:19181627|PMID:19217814|PMID:19345525|PMID:20301700|PMID:20696606|PMID:21253826|PMID:21763168|PMID:21962599|PMID:23090344|PMID:23430491|PMID:23700290|PMID:24033266|PMID:24847810|PMID:25449608|PMID:25640679|PMID:25741868|PMID:26010953|PMID:26820065|PMID:27066452|PMID:27341449|PMID:28125087|PMID:28468868|PMID:28492532|PMID:29519241|PMID:30101502|PMID:31319225|PMID:32088118|PMID:32561900|PMID:32781271|PMID:33845545|PMID:34131458|PMID:35360862|PMID:9048718|PMID:9536098|PMID:9691089 12344792 CPT1A carnitine palmitoyltransferase 1A gene DOID:1059 intellectual disability ISO RGD:735945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12344792 CPT1A carnitine palmitoyltransferase 1A gene DOID:12351 alcoholic hepatitis treatment ISO RGD:2396 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 12344792 CPT1A carnitine palmitoyltransferase 1A gene DOID:3146 lipid metabolism disorder ISO RGD:735945 D RGD:9068941 20200609 RGD CPT IA deficiency, OMIM:255120, D454G PMID:9691089|REF_RGD_ID:1600732 12344792 CPT1A carnitine palmitoyltransferase 1A gene DOID:3319 lymphangioleiomyomatosis ISO RGD:735945 D RGD:9068941 20220630 RGD protein:increased expression:lung (human) PMID:29885404|REF_RGD_ID:152995523 12344792 CPT1A carnitine palmitoyltransferase 1A gene DOID:630 genetic disease ISO RGD:735945 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16169268|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12344792 CPT1A carnitine palmitoyltransferase 1A gene DOID:783 end stage renal disease ISO RGD:735945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 12344792 CPT1A carnitine palmitoyltransferase 1A gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:735945 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12344792 CPT1A carnitine palmitoyltransferase 1A gene DOID:9004017 Chronic Hepatitis C ISO RGD:735945 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver hepatocytes PMID:15685545|REF_RGD_ID:5683635 12344792 CPT1A carnitine palmitoyltransferase 1A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12344792 CPT1A carnitine palmitoyltransferase 1A gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:735945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12344792 CPT1A carnitine palmitoyltransferase 1A gene DOID:9008939 Breast Neoplasms ISO RGD:735945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 12344792 CPT1A carnitine palmitoyltransferase 1A gene DOID:9351 diabetes mellitus ISO RGD:735945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233164 12344792 CPT1A carnitine palmitoyltransferase 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:2396 D RGD:9068941 20200609 RGD PMID:19553925|REF_RGD_ID:2311344 12344792 CPT1A carnitine palmitoyltransferase 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:735945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12344792 CPT1A carnitine palmitoyltransferase 1A gene DOID:9970 obesity ISO RGD:2396 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:16751799|REF_RGD_ID:2311345 12344815 HSP70 heat shock protein 70 gene DOID:0050553 JMP syndrome ISO RGD:736398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12344815 HSP70 heat shock protein 70 gene DOID:0080205 CAKUT ISO RGD:736398 D RGD:9068941 20200609 RGD DNA: SNP: :g.1267A>G PMID:20692469|REF_RGD_ID:7242732 12344815 HSP70 heat shock protein 70 gene DOID:0080784 urinary tract infection ISO RGD:736398 D RGD:9068941 20200609 RGD DNA: SNP: :g.1267A>G PMID:20379347|REF_RGD_ID:7242733 12344815 HSP70 heat shock protein 70 gene DOID:0081267 graft-versus-host disease severity ISO RGD:2840 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:18580475|REF_RGD_ID:8662845 12344815 HSP70 heat shock protein 70 gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:736398 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:12967056|REF_RGD_ID:10402401 12344815 HSP70 heat shock protein 70 gene DOID:1168 familial hyperlipidemia ISO RGD:736398 D RGD:9068941 20200609 RGD associated with advanced age and Diabetes Mellitus, Type 2 (MeSH:D003924); DNA:SNP:CDS:B allele at position 1267 (=P2 allele) PMID:15992611|REF_RGD_ID:1626649 12344815 HSP70 heat shock protein 70 gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:736398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 12344815 HSP70 heat shock protein 70 gene DOID:14115 toxic shock syndrome susceptibility ISO RGD:736398 D RGD:9068941 20200609 RGD associated wit community-acquired pneumonia;DNA:SNP: :1267A>G (human) PMID:12771604|REF_RGD_ID:5147601 12344815 HSP70 heat shock protein 70 gene DOID:1936 atherosclerosis ISO RGD:736398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16513158 12344815 HSP70 heat shock protein 70 gene DOID:2316 brain ischemia ISO RGD:736398 D RGD:9068941 20200609 RGD associated with advanced age and Diabetes Mellitus, Type 2 (MeSH:D003924); DNA:SNP:CDS:B allele at position 1267 (=P2 allele) PMID:15992611|REF_RGD_ID:1626649 12344815 HSP70 heat shock protein 70 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease 12344815 HSP70 heat shock protein 70 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:736398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17234771 12344815 HSP70 heat shock protein 70 gene DOID:37 skin disease ISO RGD:736398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12344815 HSP70 heat shock protein 70 gene DOID:5419 schizophrenia ISO RGD:736398 D RGD:9068941 20200609 RGD DNA:silent mutation, haplotype:cds: (rs539689) (human) PMID:18299791|REF_RGD_ID:5147596 12344815 HSP70 heat shock protein 70 gene DOID:630 genetic disease ISO RGD:736398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344815 HSP70 heat shock protein 70 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736398 D RGD:9068941 20200609 RGD PMID:18518860|REF_RGD_ID:7242747 12344815 HSP70 heat shock protein 70 gene DOID:9002669 Hypoxia EXP D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:18258771 12344815 HSP70 heat shock protein 70 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:736398 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :rs1061581 (human) PMID:18813331|REF_RGD_ID:8662841 12344815 HSP70 heat shock protein 70 gene DOID:9003817 Sudden Hearing Loss ISO RGD:736398 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :rs2763979 (human) PMID:22922572|REF_RGD_ID:8662465 12344815 HSP70 heat shock protein 70 gene DOID:9004009 Reperfusion Injury ISO RGD:2840 D RGD:9068941 20200609 RGD PMID:10550516|REF_RGD_ID:7242749 12344815 HSP70 heat shock protein 70 gene DOID:9004009 Reperfusion Injury ISO RGD:736398 D RGD:9068941 20200609 RGD PMID:10965299|REF_RGD_ID:7242748 12344815 HSP70 heat shock protein 70 gene DOID:9007964 Arsenic Poisoning ISO RGD:736398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12344815 HSP70 heat shock protein 70 gene DOID:9008212 Diabetic Foot severity ISO RGD:736398 D RGD:9068941 20200609 RGD DNA:polymorphism: :1538G>A (human) PMID:19731315|REF_RGD_ID:8662463 12344815 HSP70 heat shock protein 70 gene DOID:9008939 Breast Neoplasms ISO RGD:736398 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15665820 12344815 HSP70 heat shock protein 70 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736398 D RGD:9068941 20200609 RGD DNA:SNP:CDS:homozygous P2/P2 allele at position 1267 (p=0.001 for all diabetic patients, p=0.0012 for non-obese diabetic patients) PMID:15223990|REF_RGD_ID:1626646 12344815 HSP70 heat shock protein 70 gene DOID:9669 senile cataract susceptibility ISO RGD:736398 D RGD:9068941 20200609 RGD DNA:SNP: :1267A>G (human) PMID:23666708|REF_RGD_ID:8662462 12344815 HSP70 heat shock protein 70 gene DOID:9970 obesity ISO RGD:736398 D RGD:9068941 20200609 RGD DNA:SNP:CDS:homozygous P2/P2 allele at position 1267 (p<0.000001) PMID:11319647|REF_RGD_ID:1626642 12344820 HRH2 histamine receptor H2 gene DOID:0060001 withdrawal disorder ISO RGD:735725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8870037 12344820 HRH2 histamine receptor H2 gene DOID:10763 hypertension ISO RGD:735725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30310171 12344820 HRH2 histamine receptor H2 gene DOID:224 transient cerebral ischemia ISO RGD:2831 D RGD:9068941 20200609 RGD protein:decreased expression:caudate putamen (rat) PMID:16181737|REF_RGD_ID:9685533 12344820 HRH2 histamine receptor H2 gene DOID:2661 myoepithelioma ISO RGD:735725 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12344820 HRH2 histamine receptor H2 gene DOID:2671 transitional cell carcinoma ISO RGD:735725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6224980 12344820 HRH2 histamine receptor H2 gene DOID:4248 coronary stenosis ISO RGD:735725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12721106 12344820 HRH2 histamine receptor H2 gene DOID:6000 congestive heart failure susceptibility ISO RGD:10732 D RGD:9068941 20200609 RGD PMID:24655024|REF_RGD_ID:9685523 12344820 HRH2 histamine receptor H2 gene DOID:630 genetic disease ISO RGD:735725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344820 HRH2 histamine receptor H2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6224980 12344820 HRH2 histamine receptor H2 gene DOID:9002170 Experimental Neoplasms ISO RGD:735725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6224980 12344820 HRH2 histamine receptor H2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:735725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30310171 12344820 HRH2 histamine receptor H2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22926047 12344820 HRH2 histamine receptor H2 gene DOID:9007838 Myocardial Reperfusion Injury susceptibility ISO RGD:10732 D RGD:9068941 20200609 RGD PMID:23467745|REF_RGD_ID:9685524 12344838 STXBP2 syntaxin binding protein 2 gene DOID:0080490 mucolipidosis type IV ISO RGD:733592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12344838 STXBP2 syntaxin binding protein 2 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:733592 D RGD:7240710 20180130 OMIM 12344838 STXBP2 syntaxin binding protein 2 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:733592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:10788461|PMID:16199547|PMID:17576681|PMID:19804848|PMID:19884660|PMID:20558610|PMID:20798128|PMID:20823128|PMID:21881043|PMID:22336081|PMID:22451424|PMID:22791290|PMID:22796692|PMID:23382066|PMID:23687090|PMID:24033266|PMID:24194549|PMID:24916509|PMID:25564401|PMID:25741868|PMID:25901543|PMID:26451869|PMID:26684649|PMID:27209435|PMID:27379089|PMID:27577878|PMID:27781387|PMID:27848944|PMID:28353193|PMID:28380445|PMID:28399723|PMID:28492532|PMID:28724787|PMID:28748566|PMID:29599780|PMID:29665027|PMID:30104219|PMID:30697212|PMID:30899265|PMID:31130284|PMID:31388699|PMID:31976148|PMID:32256442|PMID:32542393|PMID:33162974|PMID:33746956|PMID:34050687|PMID:34249802|PMID:36588876|PMID:9536098 12344838 STXBP2 syntaxin binding protein 2 gene DOID:2213 hemorrhagic disease ISO RGD:733592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:24916509|PMID:25741868|PMID:28399723|PMID:28492532|PMID:32256442|PMID:34050687|PMID:36588876 12344838 STXBP2 syntaxin binding protein 2 gene DOID:2218 blood platelet disease ISO RGD:733592 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30696774 12344838 STXBP2 syntaxin binding protein 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:733592 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:19804848|PMID:19884660|PMID:20558610|PMID:20798128|PMID:20823128|PMID:21881043|PMID:22451424|PMID:23687090|PMID:24033266|PMID:24194549|PMID:24916509|PMID:25741868|PMID:27577878|PMID:28492532|PMID:29665027|PMID:32542393|PMID:34050687 12344838 STXBP2 syntaxin binding protein 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:733592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:19804848|PMID:19884660|PMID:20558610|PMID:20798128|PMID:20823128|PMID:21881043|PMID:22451424|PMID:23687090|PMID:24033266|PMID:24194549|PMID:24916509|PMID:25741868|PMID:27577878|PMID:27781387|PMID:28492532|PMID:29665027|PMID:32256442|PMID:32542393|PMID:34050687|PMID:34249802|PMID:36588876 12344838 STXBP2 syntaxin binding protein 2 gene DOID:3410 carotid artery thrombosis ISO RGD:733592 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30696774 12344838 STXBP2 syntaxin binding protein 2 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:733592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Complex IV deficiency PMID:24462369|PMID:25293719|PMID:25741868|PMID:32313153 12344838 STXBP2 syntaxin binding protein 2 gene DOID:630 genetic disease ISO RGD:733592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12344838 STXBP2 syntaxin binding protein 2 gene DOID:9004404 Familial Hemophagocytic Lymphohistiocytoses ISO RGD:733592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis | ClinVar Annotator: match by term: Familial histiocytic reticulosis PMID:16199547|PMID:19804848|PMID:19884660|PMID:20558610|PMID:20823128|PMID:22451424|PMID:22791290|PMID:23687090|PMID:24033266|PMID:24194549|PMID:24916509|PMID:25564401|PMID:25741868|PMID:27577878|PMID:28492532|PMID:32256442|PMID:32542393|PMID:33746956|PMID:34050687|PMID:36588876 12344838 STXBP2 syntaxin binding protein 2 gene DOID:9004872 Congenital Infantile Lactic Acidosis ISO RGD:733592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital lactic acidosis PMID:25293719|PMID:25741868 12344838 STXBP2 syntaxin binding protein 2 gene DOID:9006173 Mitochondrial Complex IV Deficiency, Nuclear Type 12 ISO RGD:733592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 PMID:17576681|PMID:24462369|PMID:25293719|PMID:25741868|PMID:28492532|PMID:32313153|PMID:9536098 12344838 STXBP2 syntaxin binding protein 2 gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:733592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:24462369|PMID:25293719|PMID:25741868|PMID:32313153 12344838 STXBP2 syntaxin binding protein 2 gene DOID:9008217 Hemorrhage ISO RGD:733592 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30696774 12344861 MDGA1 MAM domain containing glycosylphosphatidylinositol anchor 1 gene DOID:630 genetic disease ISO RGD:1315985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344861 MDGA1 MAM domain containing glycosylphosphatidylinositol anchor 1 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1315985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia 12344882 SH2D4A SH2 domain containing 4A gene DOID:0080600 COVID-19 ISO RGD:1317502 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12344882 SH2D4A SH2 domain containing 4A gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1317502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 12344882 SH2D4A SH2 domain containing 4A gene DOID:630 genetic disease ISO RGD:1317502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344905 MUS81 MUS81 structure-specific endonuclease subunit gene DOID:0050645 arterial tortuosity syndrome ISO RGD:1323680 D RGD:9068941 20220825 MouseDO OMIM:208050 12344905 MUS81 MUS81 structure-specific endonuclease subunit gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1323679 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:15776121|PMID:20389311|PMID:21563328|PMID:25741868|PMID:28492532 12344905 MUS81 MUS81 structure-specific endonuclease subunit gene DOID:0070135 autosomal recessive cutis laxa type IA ISO RGD:1323679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1A PMID:15776121|PMID:20389311|PMID:21563328|PMID:28492532 12344905 MUS81 MUS81 structure-specific endonuclease subunit gene DOID:1059 intellectual disability ISO RGD:1323679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12344905 MUS81 MUS81 structure-specific endonuclease subunit gene DOID:14323 Marfan syndrome ISO RGD:1323680 D RGD:9068941 20220825 MouseDO OMIM:154700 12344905 MUS81 MUS81 structure-specific endonuclease subunit gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12344905 MUS81 MUS81 structure-specific endonuclease subunit gene DOID:2746 glycogen storage disease V ISO RGD:1323679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12344905 MUS81 MUS81 structure-specific endonuclease subunit gene DOID:630 genetic disease ISO RGD:1323679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344905 MUS81 MUS81 structure-specific endonuclease subunit gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:1323679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, recessive 12344905 MUS81 MUS81 structure-specific endonuclease subunit gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1323679 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12344905 MUS81 MUS81 structure-specific endonuclease subunit gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1323679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 12344905 MUS81 MUS81 structure-specific endonuclease subunit gene DOID:9675 pulmonary emphysema ISO RGD:1323680 D RGD:9068941 20220825 MouseDO OMIM:130700 12344933 GLRX3 glutaredoxin 3 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:69462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12344933 GLRX3 glutaredoxin 3 gene DOID:12859 choreatic disease ISO RGD:69462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal dyskinesia PMID:32581362 12344933 GLRX3 glutaredoxin 3 gene DOID:630 genetic disease ISO RGD:69462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344933 GLRX3 glutaredoxin 3 gene DOID:9003936 Cardiomegaly ISO RGD:69462 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16809552 12344948 RSL24D1 ribosomal L24 domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1320309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12344948 RSL24D1 ribosomal L24 domain containing 1 gene DOID:630 genetic disease ISO RGD:1320309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344948 RSL24D1 ribosomal L24 domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1320309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12344958 JAM2 junctional adhesion molecule 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1343747 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12344958 JAM2 junctional adhesion molecule 2 gene DOID:10652 Alzheimer's disease ISO RGD:1343747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562|PMID:25741868 12344958 JAM2 junctional adhesion molecule 2 gene DOID:3042 allergic contact dermatitis ISO RGD:1615884 D RGD:9068941 20200609 RGD PMID:16297198|REF_RGD_ID:7488919 12344958 JAM2 junctional adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1343747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344958 JAM2 junctional adhesion molecule 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12344958 JAM2 junctional adhesion molecule 2 gene DOID:9007160 Idiopathic Basal Ganglia Calcification 8 ISO RGD:1343747 D RGD:7240710 20200408 OMIM 12344958 JAM2 junctional adhesion molecule 2 gene DOID:9007160 Idiopathic Basal Ganglia Calcification 8 ISO RGD:1343747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 8, autosomal recessive PMID:26136916|PMID:31851307|PMID:32142645 12344975 KPNA1 karyopherin subunit alpha 1 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1347998 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12344975 KPNA1 karyopherin subunit alpha 1 gene DOID:5419 schizophrenia ISO RGD:1347998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 12344975 KPNA1 karyopherin subunit alpha 1 gene DOID:630 genetic disease ISO RGD:1347998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344975 KPNA1 karyopherin subunit alpha 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12344975 KPNA1 karyopherin subunit alpha 1 gene DOID:9270 alkaptonuria ISO RGD:1347998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12344999 MYL1 myosin light chain 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:733783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12344999 MYL1 myosin light chain 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:733783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12344999 MYL1 myosin light chain 1 gene DOID:630 genetic disease ISO RGD:733783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12344999 MYL1 myosin light chain 1 gene DOID:9001348 Congenital Myopathy 14 ISO RGD:733783 D RGD:7240710 20190529 OMIM 12344999 MYL1 myosin light chain 1 gene DOID:9001348 Congenital Myopathy 14 ISO RGD:733783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 14 | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY PMID:25741868|PMID:30215711 12344999 MYL1 myosin light chain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12344999 MYL1 myosin light chain 1 gene DOID:9007588 Heart Injuries ISO RGD:733783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19854236 12345025 CACHD1 cache domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1605969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12345025 CACHD1 cache domain containing 1 gene DOID:630 genetic disease ISO RGD:1605969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345055 MPHOSPH6 M-phase phosphoprotein 6 gene DOID:630 genetic disease ISO RGD:1321401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345064 ADAM22 ADAM metallopeptidase domain 22 gene DOID:0080434 developmental and epileptic encephalopathy 61 ISO RGD:1352892 D RGD:7240710 20190315 OMIM 12345064 ADAM22 ADAM metallopeptidase domain 22 gene DOID:0080434 developmental and epileptic encephalopathy 61 ISO RGD:1352892 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 61 PMID:25741868|PMID:27066583|PMID:28492532|PMID:30237576 12345064 ADAM22 ADAM metallopeptidase domain 22 gene DOID:1826 epilepsy ISO RGD:1352892 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12345064 ADAM22 ADAM metallopeptidase domain 22 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12345064 ADAM22 ADAM metallopeptidase domain 22 gene DOID:630 genetic disease ISO RGD:1352892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345064 ADAM22 ADAM metallopeptidase domain 22 gene DOID:9000271 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation ISO RGD:1352892 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation PMID:25741868 12345106 FAU FAU ubiquitin like and ribosomal protein S30 fusion gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1351680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12345106 FAU FAU ubiquitin like and ribosomal protein S30 fusion gene DOID:1059 intellectual disability ISO RGD:1351680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12345106 FAU FAU ubiquitin like and ribosomal protein S30 fusion gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1351680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12345106 FAU FAU ubiquitin like and ribosomal protein S30 fusion gene DOID:2746 glycogen storage disease V ISO RGD:1351680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12345106 FAU FAU ubiquitin like and ribosomal protein S30 fusion gene DOID:3070 high grade glioma ISO RGD:1351680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12345106 FAU FAU ubiquitin like and ribosomal protein S30 fusion gene DOID:630 genetic disease ISO RGD:1351680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345115 MOXD1 monooxygenase DBH like 1 gene DOID:630 genetic disease ISO RGD:1320700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345153 TSEN2 tRNA splicing endonuclease subunit 2 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1603298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:16199547|PMID:18414213|PMID:18711368|PMID:20301773|PMID:20952379|PMID:25741868|PMID:28492532 12345153 TSEN2 tRNA splicing endonuclease subunit 2 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1603298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:16199547|PMID:18414213|PMID:18711368|PMID:20301773|PMID:20952379|PMID:25741868|PMID:28492532 12345153 TSEN2 tRNA splicing endonuclease subunit 2 gene DOID:0060268 pontocerebellar hypoplasia type 2B ISO RGD:1603298 D RGD:7240710 20180130 OMIM 12345153 TSEN2 tRNA splicing endonuclease subunit 2 gene DOID:0060268 pontocerebellar hypoplasia type 2B ISO RGD:1603298 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2B PMID:18414213|PMID:18711368|PMID:20301773|PMID:20952379|PMID:23562994|PMID:25741868|PMID:28492532|PMID:34964109 12345153 TSEN2 tRNA splicing endonuclease subunit 2 gene DOID:0080690 RASopathy ISO RGD:1603298 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12345153 TSEN2 tRNA splicing endonuclease subunit 2 gene DOID:1059 intellectual disability ISO RGD:1603298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 12345153 TSEN2 tRNA splicing endonuclease subunit 2 gene DOID:10907 microcephaly ISO RGD:1603298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 12345153 TSEN2 tRNA splicing endonuclease subunit 2 gene DOID:480 movement disease ISO RGD:1603298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 12345153 TSEN2 tRNA splicing endonuclease subunit 2 gene DOID:630 genetic disease ISO RGD:1603298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12345153 TSEN2 tRNA splicing endonuclease subunit 2 gene DOID:9000123 Deglutition Disorders ISO RGD:1603298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 12345153 TSEN2 tRNA splicing endonuclease subunit 2 gene DOID:9000343 Vision Disorders ISO RGD:1603298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 12345153 TSEN2 tRNA splicing endonuclease subunit 2 gene DOID:9004657 Weight Gain ISO RGD:1603298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12345180 TRPC1 transient receptor potential cation channel subfamily C member 1 gene DOID:10283 prostate cancer ISO RGD:734058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12345180 TRPC1 transient receptor potential cation channel subfamily C member 1 gene DOID:10534 stomach cancer severity ISO RGD:734058 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 12345180 TRPC1 transient receptor potential cation channel subfamily C member 1 gene DOID:630 genetic disease ISO RGD:734058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345180 TRPC1 transient receptor potential cation channel subfamily C member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:619783 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney, liver PMID:18184923|REF_RGD_ID:2301838 12345180 TRPC1 transient receptor potential cation channel subfamily C member 1 gene DOID:9002211 Hyperalgesia ISO RGD:619783 D RGD:9068941 20200609 RGD associated with Inflammation PMID:19439599|REF_RGD_ID:7247605 12345180 TRPC1 transient receptor potential cation channel subfamily C member 1 gene DOID:9003936 Cardiomegaly ISO RGD:734058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17174323 12345180 TRPC1 transient receptor potential cation channel subfamily C member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619783 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney, liver PMID:18184923|REF_RGD_ID:2301838 12345180 TRPC1 transient receptor potential cation channel subfamily C member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:619783 D RGD:9068941 20200609 RGD protein:increased expression:artery smooth muscle PMID:20337661|REF_RGD_ID:7247596 12345205 CD96 CD96 molecule gene DOID:0111581 C syndrome ISO RGD:1343806 D RGD:7240710 20180130 OMIM 12345205 CD96 CD96 molecule gene DOID:0111581 C syndrome ISO RGD:1343806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: C syndrome PMID:17847009|PMID:25741868|PMID:28492532|PMID:34906502 12345205 CD96 CD96 molecule gene DOID:2377 multiple sclerosis ISO RGD:1343806 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 12345205 CD96 CD96 molecule gene DOID:630 genetic disease ISO RGD:1343806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12345227 FZD7 frizzled class receptor 7 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1314691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12345227 FZD7 frizzled class receptor 7 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1314691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12345227 FZD7 frizzled class receptor 7 gene DOID:14557 primary pulmonary hypertension ISO RGD:1314691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:16429395|PMID:16429403|PMID:27453251|PMID:28492532|PMID:29743074 12345227 FZD7 frizzled class receptor 7 gene DOID:2154 nephroblastoma ISO RGD:1314691 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:12057921|REF_RGD_ID:2316755 12345227 FZD7 frizzled class receptor 7 gene DOID:630 genetic disease ISO RGD:1314691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345227 FZD7 frizzled class receptor 7 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1314691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12345227 FZD7 frizzled class receptor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12345227 FZD7 frizzled class receptor 7 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1314691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12345231 TNK1 tyrosine kinase non receptor 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1320828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12345231 TNK1 tyrosine kinase non receptor 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1320828 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12345231 TNK1 tyrosine kinase non receptor 1 gene DOID:1059 intellectual disability ISO RGD:1320828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12345231 TNK1 tyrosine kinase non receptor 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1320828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12345231 TNK1 tyrosine kinase non receptor 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1320828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12345231 TNK1 tyrosine kinase non receptor 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1320828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12345231 TNK1 tyrosine kinase non receptor 1 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1320828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12345231 TNK1 tyrosine kinase non receptor 1 gene DOID:630 genetic disease ISO RGD:1320828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345231 TNK1 tyrosine kinase non receptor 1 gene DOID:9255 frontotemporal dementia ISO RGD:1320828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868 12345252 KCNK10 potassium two pore domain channel subfamily K member 10 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:732934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 12345252 KCNK10 potassium two pore domain channel subfamily K member 10 gene DOID:2316 brain ischemia ISO RGD:619732 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex, hippocampus (rat) PMID:15652517|REF_RGD_ID:9831167 12345252 KCNK10 potassium two pore domain channel subfamily K member 10 gene DOID:630 genetic disease ISO RGD:732934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345252 KCNK10 potassium two pore domain channel subfamily K member 10 gene DOID:9008681 Deafness ISO RGD:619732 D RGD:9068941 20200609 RGD mRNA:decreased expression:inferior colliculus (rat) PMID:17884299|REF_RGD_ID:2316516 12345272 TSPOAP1 TSPO associated protein 1 gene DOID:0050777 Joubert syndrome ISO RGD:1346920 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12345272 TSPOAP1 TSPO associated protein 1 gene DOID:0080600 COVID-19 ISO RGD:1346920 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12345272 TSPOAP1 TSPO associated protein 1 gene DOID:1059 intellectual disability ISO RGD:1346920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:33539324 12345272 TSPOAP1 TSPO associated protein 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346920 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868 12345272 TSPOAP1 TSPO associated protein 1 gene DOID:630 genetic disease ISO RGD:1346920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345272 TSPOAP1 TSPO associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346920 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33539324 12345339 NAPEPLD N-acyl phosphatidylethanolamine phospholipase D gene DOID:12858 Huntington's disease ISO RGD:1615640 D RGD:9068941 20200609 RGD PMID:23659592|REF_RGD_ID:10412654 12345339 NAPEPLD N-acyl phosphatidylethanolamine phospholipase D gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12345339 NAPEPLD N-acyl phosphatidylethanolamine phospholipase D gene DOID:630 genetic disease ISO RGD:1603533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345339 NAPEPLD N-acyl phosphatidylethanolamine phospholipase D gene DOID:8398 osteoarthritis ISO RGD:735197 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:20722027|REF_RGD_ID:10412653 12345339 NAPEPLD N-acyl phosphatidylethanolamine phospholipase D gene DOID:9000039 Spinal Cord Injuries ISO RGD:735197 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:18930143|REF_RGD_ID:2316199 12345339 NAPEPLD N-acyl phosphatidylethanolamine phospholipase D gene DOID:9007548 Leukoencephalomyelopathy IAGP D RGD:12801476 20210603 OMIA Leukoencephalomyelopathy PMID:886368|PMID:8434139|PMID:23531239|PMID:6730216|PMID:3727341|PMID:2735894|PMID:14510327|PMID:18371035|PMID:1429164|PMID:23690496|PMID:29643404 12345354 OR5A1 olfactory receptor family 5 subfamily A member 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1354277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12345354 OR5A1 olfactory receptor family 5 subfamily A member 1 gene DOID:1059 intellectual disability ISO RGD:1354277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12345354 OR5A1 olfactory receptor family 5 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1354277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345402 ZNF34 zinc finger protein 34 gene DOID:630 genetic disease ISO RGD:1343773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345444 OPN3 opsin 3 gene DOID:0080600 COVID-19 ISO RGD:1345705 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12345444 OPN3 opsin 3 gene DOID:0111261 fumarase deficiency ISO RGD:1345705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12761039|PMID:21398687|PMID:22069215|PMID:28300276|PMID:28492532 12345444 OPN3 opsin 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1345705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12345444 OPN3 opsin 3 gene DOID:630 genetic disease ISO RGD:1345705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345444 OPN3 opsin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12345444 OPN3 opsin 3 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1345705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 12345444 OPN3 opsin 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12345490 HMOX1 heme oxygenase 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:730901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12345490 HMOX1 heme oxygenase 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:17511582|REF_RGD_ID:4145404 12345490 HMOX1 heme oxygenase 1 gene DOID:0050852 limb ischemia ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:12593860|REF_RGD_ID:1598394 12345490 HMOX1 heme oxygenase 1 gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 12345490 HMOX1 heme oxygenase 1 gene DOID:0060180 colitis ISO RGD:2806 D RGD:9068941 20200609 RGD protein:increased expression:colon: PMID:22261574|REF_RGD_ID:7207796 12345490 HMOX1 heme oxygenase 1 gene DOID:0060180 colitis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16365149|PMID:21444764 12345490 HMOX1 heme oxygenase 1 gene DOID:0060180 colitis treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:21853095|REF_RGD_ID:10766442 12345490 HMOX1 heme oxygenase 1 gene DOID:0060903 thrombosis ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:15242554|REF_RGD_ID:1598405 12345490 HMOX1 heme oxygenase 1 gene DOID:0060903 thrombosis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19168058 12345490 HMOX1 heme oxygenase 1 gene DOID:0080177 hepatic veno-occlusive disease ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:19387321|REF_RGD_ID:4145318 12345490 HMOX1 heme oxygenase 1 gene DOID:0080855 Parkinsonism treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:24169105|REF_RGD_ID:10755712 12345490 HMOX1 heme oxygenase 1 gene DOID:10322 berylliosis ISO RGD:730901 D RGD:9068941 20200609 RGD protein:increased activity:sputum PMID:19453654|REF_RGD_ID:4145349 12345490 HMOX1 heme oxygenase 1 gene DOID:10325 silicosis ISO RGD:10717 D RGD:9068941 20200609 RGD protein:increased expression:serum, lung PMID:16858012|REF_RGD_ID:4145384 12345490 HMOX1 heme oxygenase 1 gene DOID:10325 silicosis ISO RGD:730901 D RGD:9068941 20200609 RGD protein:increased expression:serum, lung PMID:16858012|REF_RGD_ID:4145384 12345490 HMOX1 heme oxygenase 1 gene DOID:10533 viral pneumonia ISO RGD:10717 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:8843786|REF_RGD_ID:4145417 12345490 HMOX1 heme oxygenase 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16319717 12345490 HMOX1 heme oxygenase 1 gene DOID:10591 pre-eclampsia ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22197494 12345490 HMOX1 heme oxygenase 1 gene DOID:10652 Alzheimer's disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11144356 12345490 HMOX1 heme oxygenase 1 gene DOID:10652 Alzheimer's disease ISO RGD:730901 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, temporal cortex (human) PMID:7778849|REF_RGD_ID:1358658 12345490 HMOX1 heme oxygenase 1 gene DOID:1073 renal hypertension ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:16316349|REF_RGD_ID:1582711 12345490 HMOX1 heme oxygenase 1 gene DOID:10762 portal hypertension ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:16830363|REF_RGD_ID:1582701 12345490 HMOX1 heme oxygenase 1 gene DOID:10763 hypertension ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:12215473|REF_RGD_ID:1580453 12345490 HMOX1 heme oxygenase 1 gene DOID:10763 hypertension ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16959961|PMID:22349312|PMID:22352330 12345490 HMOX1 heme oxygenase 1 gene DOID:10763 hypertension susceptibility ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:12872043|REF_RGD_ID:1598400 12345490 HMOX1 heme oxygenase 1 gene DOID:10763 hypertension treatment ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:20836698|REF_RGD_ID:10755717 12345490 HMOX1 heme oxygenase 1 gene DOID:10923 sickle cell anemia ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:11238038|REF_RGD_ID:10755563 12345490 HMOX1 heme oxygenase 1 gene DOID:10923 sickle cell anemia ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:11238038|REF_RGD_ID:10755563 12345490 HMOX1 heme oxygenase 1 gene DOID:10923 sickle cell anemia treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:20306336|REF_RGD_ID:10755565 12345490 HMOX1 heme oxygenase 1 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:730901 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20013271|REF_RGD_ID:10755701 12345490 HMOX1 heme oxygenase 1 gene DOID:11394 adult respiratory distress syndrome susceptibility ISO RGD:730901 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:19526221|REF_RGD_ID:4145346 12345490 HMOX1 heme oxygenase 1 gene DOID:11446 sciatic neuropathy treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23224421|REF_RGD_ID:10755722 12345490 HMOX1 heme oxygenase 1 gene DOID:11713 diabetic angiopathy ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16959961 12345490 HMOX1 heme oxygenase 1 gene DOID:11823 hepatorenal syndrome ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21253390 12345490 HMOX1 heme oxygenase 1 gene DOID:11914 gastroparesis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20378827 12345490 HMOX1 heme oxygenase 1 gene DOID:12134 factor VIII deficiency treatment ISO RGD:730901 D RGD:9068941 20200609 RGD DNA:repeat:promoter PMID:23716558|REF_RGD_ID:10755564 12345490 HMOX1 heme oxygenase 1 gene DOID:12236 primary biliary cholangitis ISO RGD:2806 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, lung PMID:12114196|REF_RGD_ID:625603 12345490 HMOX1 heme oxygenase 1 gene DOID:12337 varicocele severity ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:15878918|REF_RGD_ID:1598403 12345490 HMOX1 heme oxygenase 1 gene DOID:12365 malaria ISO RGD:10717 D RGD:9068941 20220825 MouseDO OMIM:609148 | OMIM:611162 12345490 HMOX1 heme oxygenase 1 gene DOID:1247 blood coagulation disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9884342 12345490 HMOX1 heme oxygenase 1 gene DOID:12510 retinal ischemia treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23537149|REF_RGD_ID:10755711 12345490 HMOX1 heme oxygenase 1 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:730901 D RGD:9068941 20200609 RGD mRNA:increased expression:blood cells PMID:18301921|REF_RGD_ID:4145353 12345490 HMOX1 heme oxygenase 1 gene DOID:1289 neurodegenerative disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10942521|PMID:12709579|PMID:15964507 12345490 HMOX1 heme oxygenase 1 gene DOID:12894 Sjogren's syndrome treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:24941846|REF_RGD_ID:10450595 12345490 HMOX1 heme oxygenase 1 gene DOID:13100 intracranial vasospasm ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Subarachnoid Hemorrhage PMID:19686725|REF_RGD_ID:4145300 12345490 HMOX1 heme oxygenase 1 gene DOID:13100 intracranial vasospasm ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:14657544|REF_RGD_ID:1598406 12345490 HMOX1 heme oxygenase 1 gene DOID:13100 intracranial vasospasm treatment ISO RGD:730901 D RGD:9068941 20200609 RGD associated with Subarachnoid Hemorrhage PMID:21654696|REF_RGD_ID:10755572 12345490 HMOX1 heme oxygenase 1 gene DOID:13241 Behcet's disease ISO RGD:730901 D RGD:9068941 20200609 RGD mRNA:decreased expression:mononulcear cell: PMID:18234118|REF_RGD_ID:7777175 12345490 HMOX1 heme oxygenase 1 gene DOID:13378 Kawasaki disease no_association ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:14521259|REF_RGD_ID:1598409 12345490 HMOX1 heme oxygenase 1 gene DOID:13406 pulmonary sarcoidosis ISO RGD:730901 D RGD:9068941 20200609 RGD protein:increased activity:sputum PMID:19453654|REF_RGD_ID:4145349 12345490 HMOX1 heme oxygenase 1 gene DOID:13413 hepatic encephalopathy treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23670786|REF_RGD_ID:10766445 12345490 HMOX1 heme oxygenase 1 gene DOID:14115 toxic shock syndrome ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:18208666|REF_RGD_ID:4145362 12345490 HMOX1 heme oxygenase 1 gene DOID:14330 Parkinson's disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21318773 12345490 HMOX1 heme oxygenase 1 gene DOID:1485 cystic fibrosis ISO RGD:730901 D RGD:9068941 20200609 RGD mRNA:protein:increased expression:lung PMID:15184199|REF_RGD_ID:4145410 12345490 HMOX1 heme oxygenase 1 gene DOID:1584 acute chest syndrome ISO RGD:730901 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:repeat:promoter PMID:22966170|REF_RGD_ID:10755560 12345490 HMOX1 heme oxygenase 1 gene DOID:1673 pneumothorax ISO RGD:730901 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20526373|REF_RGD_ID:4145332 12345490 HMOX1 heme oxygenase 1 gene DOID:1824 status epilepticus ISO RGD:2806 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:20971094|REF_RGD_ID:4145131 12345490 HMOX1 heme oxygenase 1 gene DOID:1824 status epilepticus ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20971094 12345490 HMOX1 heme oxygenase 1 gene DOID:2018 hyperinsulinism ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19171794 12345490 HMOX1 heme oxygenase 1 gene DOID:2237 hepatitis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14512878 12345490 HMOX1 heme oxygenase 1 gene DOID:2316 brain ischemia ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:16464361|PMID:21276833|REF_RGD_ID:10755576|REF_RGD_ID:1582709 12345490 HMOX1 heme oxygenase 1 gene DOID:2349 arteriosclerosis ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:12958201|REF_RGD_ID:1598395 12345490 HMOX1 heme oxygenase 1 gene DOID:2351 iron metabolism disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9884342 12345490 HMOX1 heme oxygenase 1 gene DOID:2352 hemochromatosis ISO RGD:10717 D RGD:9068941 20220825 MouseDO OMIM:231100 12345490 HMOX1 heme oxygenase 1 gene DOID:26 pancreas disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18784349 12345490 HMOX1 heme oxygenase 1 gene DOID:2773 contact dermatitis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12345490 HMOX1 heme oxygenase 1 gene DOID:2799 bronchiolitis obliterans ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:12973103|REF_RGD_ID:4145412 12345490 HMOX1 heme oxygenase 1 gene DOID:2841 asthma ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:20596599|REF_RGD_ID:4145403 12345490 HMOX1 heme oxygenase 1 gene DOID:2841 asthma ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18048809 12345490 HMOX1 heme oxygenase 1 gene DOID:2841 asthma severity ISO RGD:730901 D RGD:9068941 20200609 RGD mRNA;protein:increased expression:Leukocytes, Mononuclear PMID:16196283|REF_RGD_ID:4145408 12345490 HMOX1 heme oxygenase 1 gene DOID:299 adenocarcinoma susceptibility ISO RGD:730901 D RGD:9068941 20200609 RGD Lung Adenocarcinoma; DNA:allele:promoter:L allele of the (GT)n repeat (>30 repeats) PMID:15688187|REF_RGD_ID:1601607 12345490 HMOX1 heme oxygenase 1 gene DOID:3021 acute kidney failure ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21048024 12345490 HMOX1 heme oxygenase 1 gene DOID:3021 acute kidney failure treatment ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Sepsis PMID:23807243|REF_RGD_ID:10755583 12345490 HMOX1 heme oxygenase 1 gene DOID:3082 interstitial lung disease ISO RGD:730901 D RGD:9068941 20200609 RGD Idiopathic Interstitial Pneumonias;protein:increased expression:lung PMID:11727267|REF_RGD_ID:4145416 12345490 HMOX1 heme oxygenase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730901 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 12345490 HMOX1 heme oxygenase 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:730901 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:17254481|REF_RGD_ID:4145371 12345490 HMOX1 heme oxygenase 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:730901 D RGD:7240710 20230505 OMIM 12345490 HMOX1 heme oxygenase 1 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:20705587|REF_RGD_ID:10755705 12345490 HMOX1 heme oxygenase 1 gene DOID:326 ischemia ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15036356|PMID:19667931 12345490 HMOX1 heme oxygenase 1 gene DOID:3393 coronary artery disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12136229 12345490 HMOX1 heme oxygenase 1 gene DOID:3393 coronary artery disease ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:12377749|REF_RGD_ID:1580454 12345490 HMOX1 heme oxygenase 1 gene DOID:3393 coronary artery disease no_association ISO RGD:730901 D RGD:9068941 20200609 RGD DNA:repeat:promoter PMID:14691581|REF_RGD_ID:1580470 12345490 HMOX1 heme oxygenase 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:12136229|REF_RGD_ID:1598401 12345490 HMOX1 heme oxygenase 1 gene DOID:3407 carotid artery disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17095719 12345490 HMOX1 heme oxygenase 1 gene DOID:3410 carotid artery thrombosis treatment ISO RGD:10717 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell PMID:23590132|REF_RGD_ID:10755698 12345490 HMOX1 heme oxygenase 1 gene DOID:349 systemic mastocytosis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17420286 12345490 HMOX1 heme oxygenase 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23870531|PMID:24252362|REF_RGD_ID:10755587|REF_RGD_ID:10755755 12345490 HMOX1 heme oxygenase 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:20888632|REF_RGD_ID:10755588 12345490 HMOX1 heme oxygenase 1 gene DOID:3526 cerebral infarction ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:23311871|REF_RGD_ID:10755574 12345490 HMOX1 heme oxygenase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814490 12345490 HMOX1 heme oxygenase 1 gene DOID:409 liver disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16964402|PMID:17002867|PMID:17275847 12345490 HMOX1 heme oxygenase 1 gene DOID:4247 coronary restenosis susceptibility ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:16020495|REF_RGD_ID:1598402 12345490 HMOX1 heme oxygenase 1 gene DOID:4724 brain edema ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Cerebral Hemorrhage;mRNA, protein:increased expression:brain PMID:23438812|REF_RGD_ID:10766444 12345490 HMOX1 heme oxygenase 1 gene DOID:5041 esophageal cancer ISO RGD:2806 D RGD:9068941 20200609 RGD protein:increased expression:esophagus PMID:20498946|REF_RGD_ID:4145286 12345490 HMOX1 heme oxygenase 1 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:2806 D RGD:9068941 20200903 RGD protein:increased expression:lung PMID:32209028|REF_RGD_ID:38549370 12345490 HMOX1 heme oxygenase 1 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:730901 D RGD:9068941 20200903 RGD protein:increased expression:lung, endothelial cell PMID:32209028|REF_RGD_ID:38549370 12345490 HMOX1 heme oxygenase 1 gene DOID:552 pneumonia ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16582079 12345490 HMOX1 heme oxygenase 1 gene DOID:552 pneumonia susceptibility ISO RGD:730901 D RGD:9068941 20200609 RGD DNA:allele:promoter:L allele of the (GT)n repeat (>30 repeats) PMID:16582079|REF_RGD_ID:1601608 12345490 HMOX1 heme oxygenase 1 gene DOID:5679 retinal disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 12345490 HMOX1 heme oxygenase 1 gene DOID:583 hemolytic anemia ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9884342 12345490 HMOX1 heme oxygenase 1 gene DOID:5844 myocardial infarction ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:12392996|PMID:20925964|REF_RGD_ID:1598393|REF_RGD_ID:4145134 12345490 HMOX1 heme oxygenase 1 gene DOID:6000 congestive heart failure ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 12345490 HMOX1 heme oxygenase 1 gene DOID:6000 congestive heart failure treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23592614|REF_RGD_ID:10755584 12345490 HMOX1 heme oxygenase 1 gene DOID:630 genetic disease ISO RGD:730901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12345490 HMOX1 heme oxygenase 1 gene DOID:6432 pulmonary hypertension ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:20957739|REF_RGD_ID:4145325 12345490 HMOX1 heme oxygenase 1 gene DOID:6432 pulmonary hypertension ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:14970910|PMID:19409105|REF_RGD_ID:1582715|REF_RGD_ID:4145307 12345490 HMOX1 heme oxygenase 1 gene DOID:6432 pulmonary hypertension ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:20957739|REF_RGD_ID:4145325 12345490 HMOX1 heme oxygenase 1 gene DOID:750 peptic ulcer disease ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:20610858|REF_RGD_ID:4145283 12345490 HMOX1 heme oxygenase 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:12182912|REF_RGD_ID:1580455 12345490 HMOX1 heme oxygenase 1 gene DOID:783 end stage renal disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22622455 12345490 HMOX1 heme oxygenase 1 gene DOID:7998 hyperthyroidism treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23623788|REF_RGD_ID:10755742 12345490 HMOX1 heme oxygenase 1 gene DOID:8440 ileus treatment ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Sepsis PMID:22921918|REF_RGD_ID:10755726 12345490 HMOX1 heme oxygenase 1 gene DOID:850 lung disease ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:17264168|REF_RGD_ID:4145370 12345490 HMOX1 heme oxygenase 1 gene DOID:850 lung disease ISO RGD:10717 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:16309574|REF_RGD_ID:4143390 12345490 HMOX1 heme oxygenase 1 gene DOID:850 lung disease ISO RGD:2806 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury; protein:increased expression:lung PMID:20663303|REF_RGD_ID:4140396 12345490 HMOX1 heme oxygenase 1 gene DOID:850 lung disease ISO RGD:2806 D RGD:9068941 20200609 RGD acute lung injury PMID:19024100|PMID:20638132|REF_RGD_ID:4145327|REF_RGD_ID:4145350 12345490 HMOX1 heme oxygenase 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:22139798|REF_RGD_ID:10755566 12345490 HMOX1 heme oxygenase 1 gene DOID:8927 learning disability ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11718997 12345490 HMOX1 heme oxygenase 1 gene DOID:900 hepatopulmonary syndrome ISO RGD:2806 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:21518603|REF_RGD_ID:10755724 12345490 HMOX1 heme oxygenase 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23943397|REF_RGD_ID:10766443 12345490 HMOX1 heme oxygenase 1 gene DOID:9000184 Ventricular Fibrillation ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:12958158|REF_RGD_ID:1598396 12345490 HMOX1 heme oxygenase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14647439|PMID:22490514 12345490 HMOX1 heme oxygenase 1 gene DOID:9000310 Lung Injury ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17365036 12345490 HMOX1 heme oxygenase 1 gene DOID:9000352 Vascular System Injuries ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19234301 12345490 HMOX1 heme oxygenase 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:16543643|REF_RGD_ID:1582702 12345490 HMOX1 heme oxygenase 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:2806 D RGD:9068941 20200609 RGD mRNA:increased expression:subarachnoid space PMID:19686725|REF_RGD_ID:4145300 12345490 HMOX1 heme oxygenase 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:14657544|REF_RGD_ID:1598406 12345490 HMOX1 heme oxygenase 1 gene DOID:9000528 Coronary Disease ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:15869055|REF_RGD_ID:1598404 12345490 HMOX1 heme oxygenase 1 gene DOID:9000774 Brain Death ISO RGD:2806 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:23356498|REF_RGD_ID:10755728 12345490 HMOX1 heme oxygenase 1 gene DOID:9000774 Brain Death treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:20819234|REF_RGD_ID:10766439 12345490 HMOX1 heme oxygenase 1 gene DOID:9000784 Fibrosis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18784349 12345490 HMOX1 heme oxygenase 1 gene DOID:9000855 Experimental Radiation Injuries treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:22247972|REF_RGD_ID:10755582 12345490 HMOX1 heme oxygenase 1 gene DOID:9000884 Rhabdomyolysis treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:21726176|REF_RGD_ID:10766438 12345490 HMOX1 heme oxygenase 1 gene DOID:9000972 Fever ISO RGD:2806 D RGD:9068941 20200609 RGD protein:increased expression:glial cell PMID:12834255|REF_RGD_ID:1304397 12345490 HMOX1 heme oxygenase 1 gene DOID:9000998 Brain Injuries ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23470432|REF_RGD_ID:10755702 12345490 HMOX1 heme oxygenase 1 gene DOID:9001390 Testis Reperfusion Injury treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23142244|REF_RGD_ID:10755740 12345490 HMOX1 heme oxygenase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:19554654|REF_RGD_ID:4145305 12345490 HMOX1 heme oxygenase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16025519|PMID:16610050|PMID:21163135|PMID:25380136 12345490 HMOX1 heme oxygenase 1 gene DOID:9001600 Wounds and Injuries ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12649161 12345490 HMOX1 heme oxygenase 1 gene DOID:9001614 Chronic Tubulointerstitial Nephropathy ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:11135063|REF_RGD_ID:10755562 12345490 HMOX1 heme oxygenase 1 gene DOID:9001627 Pathologic Constriction ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:20022212|REF_RGD_ID:4145296 12345490 HMOX1 heme oxygenase 1 gene DOID:9001650 Pregnancy-Induced Hypertension treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:21383306|REF_RGD_ID:10755723 12345490 HMOX1 heme oxygenase 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:20514418|REF_RGD_ID:10755719 12345490 HMOX1 heme oxygenase 1 gene DOID:9001708 Hemorrhagic Shock severity ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:20819606|REF_RGD_ID:10755727 12345490 HMOX1 heme oxygenase 1 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Glaucoma PMID:20357190|REF_RGD_ID:4145289 12345490 HMOX1 heme oxygenase 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10717 D RGD:9068941 20200609 RGD associated with influenza;protein:increased expression:lung PMID:17348295|REF_RGD_ID:4145366 12345490 HMOX1 heme oxygenase 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:20446775|REF_RGD_ID:10755725 12345490 HMOX1 heme oxygenase 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21849637|REF_RGD_ID:10755581 12345490 HMOX1 heme oxygenase 1 gene DOID:9002221 Hyperplasia ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19234301 12345490 HMOX1 heme oxygenase 1 gene DOID:9002254 Dilatation, Pathologic ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:15057912|REF_RGD_ID:1580452 12345490 HMOX1 heme oxygenase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25246272 12345490 HMOX1 heme oxygenase 1 gene DOID:9002473 Blast Crisis ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:22139798|REF_RGD_ID:10755566 12345490 HMOX1 heme oxygenase 1 gene DOID:9002514 Neointima treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:21804207|REF_RGD_ID:10755571 12345490 HMOX1 heme oxygenase 1 gene DOID:9002532 Neonatal Hyperbilirubinemia ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:19646271|REF_RGD_ID:4145302 12345490 HMOX1 heme oxygenase 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12401953 12345490 HMOX1 heme oxygenase 1 gene DOID:9003230 Graft Occlusion, Vascular ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:12958201|REF_RGD_ID:1598395 12345490 HMOX1 heme oxygenase 1 gene DOID:9003420 Carbon Monoxide Poisoning ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:19520142|PMID:20422170|REF_RGD_ID:4145288|REF_RGD_ID:4145306 12345490 HMOX1 heme oxygenase 1 gene DOID:9003603 Hemolysis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25247420 12345490 HMOX1 heme oxygenase 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:730901 D RGD:9068941 20200609 RGD mRNA, protein:increased expression: nasal mucosa PMID:16540907|REF_RGD_ID:4145406 12345490 HMOX1 heme oxygenase 1 gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:25447631|REF_RGD_ID:10766440 12345490 HMOX1 heme oxygenase 1 gene DOID:9003936 Cardiomegaly ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15226216 12345490 HMOX1 heme oxygenase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:12919086|PMID:16699460|REF_RGD_ID:1582708|REF_RGD_ID:4145514 12345490 HMOX1 heme oxygenase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2806 D RGD:9068941 20200609 RGD protein:increased expression:serum, Bronchoalveolar Lavage Fluid PMID:19885035|REF_RGD_ID:4145338 12345490 HMOX1 heme oxygenase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12352873|PMID:16982915|PMID:17660127|PMID:17906103|PMID:23075401|PMID:25780291 12345490 HMOX1 heme oxygenase 1 gene DOID:9004237 Hyperoxic Lung Injury treatment ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:23475767|REF_RGD_ID:10755753 12345490 HMOX1 heme oxygenase 1 gene DOID:9004237 Hyperoxic Lung Injury treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23475767|REF_RGD_ID:10755753 12345490 HMOX1 heme oxygenase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24211270 12345490 HMOX1 heme oxygenase 1 gene DOID:9004610 Acute Lung Injury ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:20850789|REF_RGD_ID:4145326 12345490 HMOX1 heme oxygenase 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:20360627|REF_RGD_ID:4140418 12345490 HMOX1 heme oxygenase 1 gene DOID:9004786 Carbon Tetrachloride Poisoning ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:24748974|REF_RGD_ID:10755718 12345490 HMOX1 heme oxygenase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15688187|PMID:18508827 12345490 HMOX1 heme oxygenase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16319139 12345490 HMOX1 heme oxygenase 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23215791|REF_RGD_ID:10755708 12345490 HMOX1 heme oxygenase 1 gene DOID:9005372 Inflammation ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12649161|PMID:16982915|PMID:23451061|PMID:29086419 12345490 HMOX1 heme oxygenase 1 gene DOID:9005526 Pulmonary Edema of Mountaineers ISO RGD:2806 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21296072|REF_RGD_ID:10755745 12345490 HMOX1 heme oxygenase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:15734859|REF_RGD_ID:1582713 12345490 HMOX1 heme oxygenase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16123366|PMID:16959961|PMID:18375438|PMID:19804535 12345490 HMOX1 heme oxygenase 1 gene DOID:9005785 Altitude Sickness ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23537263|REF_RGD_ID:10755714 12345490 HMOX1 heme oxygenase 1 gene DOID:9005930 Endotoxemia treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:21396999|REF_RGD_ID:10755715 12345490 HMOX1 heme oxygenase 1 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:12230867|REF_RGD_ID:1598397 12345490 HMOX1 heme oxygenase 1 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:14587309|REF_RGD_ID:1598408 12345490 HMOX1 heme oxygenase 1 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:21291499|REF_RGD_ID:10755580 12345490 HMOX1 heme oxygenase 1 gene DOID:9006257 Growth Disorders ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9884342 12345490 HMOX1 heme oxygenase 1 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:22193921|REF_RGD_ID:10763276 12345490 HMOX1 heme oxygenase 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18227147 12345490 HMOX1 heme oxygenase 1 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:2806 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21227458|REF_RGD_ID:10755577 12345490 HMOX1 heme oxygenase 1 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23453443|PMID:23853776|REF_RGD_ID:10412713|REF_RGD_ID:9586347 12345490 HMOX1 heme oxygenase 1 gene DOID:9007096 Stroke ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:14753445|REF_RGD_ID:1598410 12345490 HMOX1 heme oxygenase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:15734859|REF_RGD_ID:1582713 12345490 HMOX1 heme oxygenase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12345490 HMOX1 heme oxygenase 1 gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:15064108|REF_RGD_ID:1598399 12345490 HMOX1 heme oxygenase 1 gene DOID:9007188 Liver Neoplasms ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17002867 12345490 HMOX1 heme oxygenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18227147|PMID:22688006 12345490 HMOX1 heme oxygenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 12345490 HMOX1 heme oxygenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:22886620|PMID:29091898|REF_RGD_ID:10762620|REF_RGD_ID:15090820 12345490 HMOX1 heme oxygenase 1 gene DOID:9007692 Insulin Resistance ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18375438|PMID:19171794 12345490 HMOX1 heme oxygenase 1 gene DOID:9007692 Insulin Resistance ISO RGD:730901 D RGD:9068941 20200609 RGD mRNA:decreased expression:muscle:defective protection against oxidative stress PMID:12941774|REF_RGD_ID:1601621 12345490 HMOX1 heme oxygenase 1 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:19362701|REF_RGD_ID:10766423 12345490 HMOX1 heme oxygenase 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:12709584|REF_RGD_ID:1598392 12345490 HMOX1 heme oxygenase 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:22179023|REF_RGD_ID:10755573 12345490 HMOX1 heme oxygenase 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:23921302|REF_RGD_ID:10755585 12345490 HMOX1 heme oxygenase 1 gene DOID:9008114 Helicobacter Infections ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:16100019|REF_RGD_ID:1598398 12345490 HMOX1 heme oxygenase 1 gene DOID:9008173 Paraparesis treatment ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Lathyrism PMID:23068093|REF_RGD_ID:10766441 12345490 HMOX1 heme oxygenase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 12345490 HMOX1 heme oxygenase 1 gene DOID:9008996 Heme Oxygenase 1 Deficiency ISO RGD:730901 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Heme oxygenase 1 deficiency PMID:21088618|PMID:22023467|PMID:25741868|PMID:26526137|PMID:27662012|PMID:28492532|PMID:32587840|PMID:33066778|PMID:9884342 12345490 HMOX1 heme oxygenase 1 gene DOID:9008996 Heme Oxygenase 1 Deficiency susceptibility ISO RGD:730901 D RGD:7240710 20230505 OMIM 12345490 HMOX1 heme oxygenase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:2806 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, spleen PMID:19268504|REF_RGD_ID:10755700 12345490 HMOX1 heme oxygenase 1 gene DOID:9146 visceral leishmaniasis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461696 12345490 HMOX1 heme oxygenase 1 gene DOID:9146 visceral leishmaniasis treatment ISO RGD:730901 D RGD:9068941 20210312 RGD PMID:23729024|REF_RGD_ID:42724459 12345490 HMOX1 heme oxygenase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12136229|PMID:16123366|PMID:16959961 12345490 HMOX1 heme oxygenase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730901 D RGD:9068941 20200609 RGD DNA:repeat:promoter PMID:17991645|REF_RGD_ID:10755699 12345490 HMOX1 heme oxygenase 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Obesity PMID:23731386|REF_RGD_ID:8695927 12345490 HMOX1 heme oxygenase 1 gene DOID:9675 pulmonary emphysema ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10631150 12345490 HMOX1 heme oxygenase 1 gene DOID:9675 pulmonary emphysema susceptibility ISO RGD:730901 D RGD:9068941 20200609 RGD DNA:allele:promoter:L allele of the (GT)n repeat (>30 repeats) PMID:10631150|REF_RGD_ID:1601606 12345490 HMOX1 heme oxygenase 1 gene DOID:9970 obesity ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18334666|PMID:18375438|PMID:19171794 12345497 DNAJB7 DnaJ heat shock protein family (Hsp40) member B7 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1353448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12345497 DNAJB7 DnaJ heat shock protein family (Hsp40) member B7 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1353448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:15706485|PMID:24476420|PMID:28492532 12345497 DNAJB7 DnaJ heat shock protein family (Hsp40) member B7 gene DOID:557 kidney disease ISO RGD:1353448 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases PMID:25741868 12345497 DNAJB7 DnaJ heat shock protein family (Hsp40) member B7 gene DOID:630 genetic disease ISO RGD:1353448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345502 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1605700 D RGD:9068941 20200609 RGD PMID:24652950|REF_RGD_ID:9589169 12345502 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:0050553 JMP syndrome ISO RGD:1605700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12345502 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:1909 melanoma disease_progression ISO RGD:1605700 D RGD:9068941 20200609 RGD PMID:24658378|REF_RGD_ID:9590069 12345502 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1605700 D RGD:9068941 20200609 RGD protein:increased expression:esophagus mucosa: PMID:24805087|REF_RGD_ID:9590071 12345502 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1605700 D RGD:9068941 20200609 RGD PMID:20940408|REF_RGD_ID:9589170 12345502 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:4001 ovarian carcinoma ISO RGD:1605700 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:25115793 12345502 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:5223 infertility ISO RGD:1605700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25975992 12345502 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1605700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345502 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605700 D RGD:9068941 20200609 RGD associated with Esophageal Squamous Cell Carcinoma; PMID:24805087|REF_RGD_ID:9590071 12345502 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605700 D RGD:9068941 20200609 RGD associated with Melanoma; PMID:24658378|REF_RGD_ID:9590069 12345502 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1605700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20940408|PMID:25115793 12345502 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1605700 D RGD:9068941 20200609 RGD associated with lung neoplasms; PMID:20940408|REF_RGD_ID:9589170 12345502 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:9004203 Chromosome Breakage ISO RGD:1605700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29391238 12345502 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:9004379 Vesicular Stomatitis ISO RGD:1605700 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26418342 12345502 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1605700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20940408 12345502 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1605700 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20056891 12345502 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1605700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29391238 12345502 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:1605700 D RGD:9068941 20200609 RGD DNA:SNP: :rs535586(human) PMID:19843671|REF_RGD_ID:9589147 12345502 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1605700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24532712 12345502 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1550173 D RGD:9068941 20200609 RGD PMID:24532712|REF_RGD_ID:9589168 12345502 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:986 alopecia areata ISO RGD:1605700 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell: PMID:21936853|REF_RGD_ID:9587460 12345502 EHMT2 euchromatic histone lysine methyltransferase 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1605700 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:32889036 12345537 PSMF1 proteasome inhibitor subunit 1 gene DOID:630 genetic disease ISO RGD:1345633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345554 NDUFB5 NADH:ubiquinone oxidoreductase subunit B5 gene DOID:0080600 COVID-19 ISO RGD:1314222 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12345554 NDUFB5 NADH:ubiquinone oxidoreductase subunit B5 gene DOID:0111546 Currarino syndrome ISO RGD:1314222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12345554 NDUFB5 NADH:ubiquinone oxidoreductase subunit B5 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1314222 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 12345554 NDUFB5 NADH:ubiquinone oxidoreductase subunit B5 gene DOID:5844 myocardial infarction treatment ISO RGD:1314223 D RGD:9068941 20200609 RGD PMID:24692845|REF_RGD_ID:13801194 12345554 NDUFB5 NADH:ubiquinone oxidoreductase subunit B5 gene DOID:630 genetic disease ISO RGD:1314222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345554 NDUFB5 NADH:ubiquinone oxidoreductase subunit B5 gene DOID:9003631 Diastolic Dysfunction ISO RGD:1305909 D RGD:9068941 20200609 RGD associated with obesity;mRNA, protein:decreased expression:myocardium PMID:26790384|REF_RGD_ID:13801193 12345564 PIGG phosphatidylinositol glycan anchor biosynthesis class G gene DOID:0080454 developmental and epileptic encephalopathy 42 ISO RGD:1603213 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42 PMID:25741868|PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251 12345564 PIGG phosphatidylinositol glycan anchor biosynthesis class G gene DOID:1826 epilepsy ISO RGD:1603213 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12345564 PIGG phosphatidylinositol glycan anchor biosynthesis class G gene DOID:1856 cherubism ISO RGD:1603213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12345564 PIGG phosphatidylinositol glycan anchor biosynthesis class G gene DOID:630 genetic disease ISO RGD:1603213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:31980526|PMID:33921431|PMID:34113002 12345564 PIGG phosphatidylinositol glycan anchor biosynthesis class G gene DOID:9002100 Hyperphosphatasia with Mental Retardation Syndrome 1 ISO RGD:1603213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 PMID:25741868|PMID:26996948|PMID:28492532 12345564 PIGG phosphatidylinositol glycan anchor biosynthesis class G gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1603213 D RGD:7240710 20190315 OMIM 12345564 PIGG phosphatidylinositol glycan anchor biosynthesis class G gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1603213 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: EMM-NULL PHENOTYPE | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 13 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 53 | ClinVar Annotator: match by term: Mental retardation, autosomal recessive 53 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:16199547|PMID:17576681|PMID:25741868|PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:31980526|PMID:33763700|PMID:33921431|PMID:34113002|PMID:34535746|PMID:34908758|PMID:3603660|PMID:9536098 12345590 MIPOL1 mirror-image polydactyly 1 gene DOID:1148 polydactyly ISO RGD:1344580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11954550 12345590 MIPOL1 mirror-image polydactyly 1 gene DOID:12859 choreatic disease ISO RGD:1344580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign hereditary chorea PMID:11971878 12345590 MIPOL1 mirror-image polydactyly 1 gene DOID:630 genetic disease ISO RGD:1344580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345590 MIPOL1 mirror-image polydactyly 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1344580 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12345632 TST thiosulfate sulfurtransferase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:735470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12345632 TST thiosulfate sulfurtransferase gene DOID:0060180 colitis ISO RGD:735470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19647029 12345632 TST thiosulfate sulfurtransferase gene DOID:0070194 autosomal recessive chronic granulomatous disease 3 ISO RGD:735470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III PMID:28492532 12345632 TST thiosulfate sulfurtransferase gene DOID:0090036 myoclonic dystonia 26 ISO RGD:735470 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12345632 TST thiosulfate sulfurtransferase gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:735470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12345632 TST thiosulfate sulfurtransferase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12345632 TST thiosulfate sulfurtransferase gene DOID:630 genetic disease ISO RGD:735470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345632 TST thiosulfate sulfurtransferase gene DOID:684 hepatocellular carcinoma ISO RGD:735470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12345632 TST thiosulfate sulfurtransferase gene DOID:9002304 Prostatic Neoplasms ISO RGD:735470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12345638 TBC1D9B TBC1 domain family member 9B gene DOID:630 genetic disease ISO RGD:1604633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345669 OLFM2 olfactomedin 2 gene DOID:12849 autistic disorder ISO RGD:1320243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12345669 OLFM2 olfactomedin 2 gene DOID:630 genetic disease ISO RGD:1320243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345724 STPG2 sperm tail PG-rich repeat containing 2 gene DOID:630 genetic disease ISO RGD:1602169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345752 HACD1 3-hydroxyacyl-CoA dehydratase 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1343988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12345752 HACD1 3-hydroxyacyl-CoA dehydratase 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1343988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12345752 HACD1 3-hydroxyacyl-CoA dehydratase 1 gene DOID:422 congenital structural myopathy IAGP D RGD:12801476 20210603 OMIA Centronuclear myopathy, HACD1-related PMID:977449|PMID:12443679|PMID:12884002|PMID:3662204|PMID:3750734|PMID:2458692|PMID:15829503|PMID:8640649|PMID:21217042|PMID:21866517|PMID:6495580|PMID:3421890|PMID:11166165|PMID:23071563|PMID:24069350 12345752 HACD1 3-hydroxyacyl-CoA dehydratase 1 gene DOID:630 genetic disease ISO RGD:1343988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12345752 HACD1 3-hydroxyacyl-CoA dehydratase 1 gene DOID:9000525 Congenital Myopathy 11 ISO RGD:1343988 D RGD:7240710 20220810 OMIM 12345752 HACD1 3-hydroxyacyl-CoA dehydratase 1 gene DOID:9000525 Congenital Myopathy 11 ISO RGD:1343988 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, nonprogressive PMID:16199547|PMID:23933735|PMID:28492532|PMID:32426512|PMID:33354762 12345752 HACD1 3-hydroxyacyl-CoA dehydratase 1 gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1343988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 12345764 UBA7 ubiquitin like modifier activating enzyme 7 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12345764 UBA7 ubiquitin like modifier activating enzyme 7 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12345764 UBA7 ubiquitin like modifier activating enzyme 7 gene DOID:1059 intellectual disability ISO RGD:1318027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12345764 UBA7 ubiquitin like modifier activating enzyme 7 gene DOID:1749 squamous cell carcinoma ISO RGD:1318027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19014429 12345764 UBA7 ubiquitin like modifier activating enzyme 7 gene DOID:630 genetic disease ISO RGD:1318027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345764 UBA7 ubiquitin like modifier activating enzyme 7 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1318027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12345792 VOPP1 VOPP1 WW domain binding protein gene DOID:12849 autistic disorder ISO RGD:1602094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12345792 VOPP1 VOPP1 WW domain binding protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12345792 VOPP1 VOPP1 WW domain binding protein gene DOID:630 genetic disease ISO RGD:1602094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345792 VOPP1 VOPP1 WW domain binding protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12345792 VOPP1 VOPP1 WW domain binding protein gene DOID:9119 acute myeloid leukemia ISO RGD:1602094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 12345801 MIEF2 mitochondrial elongation factor 2 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1347197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 12345801 MIEF2 mitochondrial elongation factor 2 gene DOID:0050777 Joubert syndrome ISO RGD:1347197 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12345801 MIEF2 mitochondrial elongation factor 2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1347197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12345801 MIEF2 mitochondrial elongation factor 2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1347197 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12345801 MIEF2 mitochondrial elongation factor 2 gene DOID:0112110 combined oxidative phosphorylation deficiency 49 ISO RGD:1347197 D RGD:7240710 20200930 OMIM 12345801 MIEF2 mitochondrial elongation factor 2 gene DOID:0112110 combined oxidative phosphorylation deficiency 49 ISO RGD:1347197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 49 PMID:29361167 12345801 MIEF2 mitochondrial elongation factor 2 gene DOID:12849 autistic disorder ISO RGD:1347197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12345801 MIEF2 mitochondrial elongation factor 2 gene DOID:630 genetic disease ISO RGD:1347197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345823 GDF10 growth differentiation factor 10 gene DOID:10283 prostate cancer ISO RGD:1342570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12345823 GDF10 growth differentiation factor 10 gene DOID:5419 schizophrenia ISO RGD:1342570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12345823 GDF10 growth differentiation factor 10 gene DOID:630 genetic disease ISO RGD:1342570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345823 GDF10 growth differentiation factor 10 gene DOID:9003566 Mesothelioma ISO RGD:1342570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18949431 12345823 GDF10 growth differentiation factor 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1342570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23180569 12345830 ACCS 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) gene DOID:0080600 COVID-19 ISO RGD:1606762 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12345830 ACCS 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) gene DOID:1059 intellectual disability ISO RGD:1606762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12345830 ACCS 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) gene DOID:630 genetic disease ISO RGD:1606762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345909 LOC403555 SET translocation gene DOID:9000141 Autosomal Dominant Intellectual Developmental Disorder 58 ISO RGD:6480423 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 58 PMID:25741868 12345938 MRPS9 mitochondrial ribosomal protein S9 gene DOID:630 genetic disease ISO RGD:1315244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345953 CAMLG calcium modulating ligand gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347931 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12345953 CAMLG calcium modulating ligand gene DOID:630 genetic disease ISO RGD:1347931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345953 CAMLG calcium modulating ligand gene DOID:8692 myeloid leukemia ISO RGD:1347931 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow (human) PMID:12031912|REF_RGD_ID:2316229 12345953 CAMLG calcium modulating ligand gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12345953 CAMLG calcium modulating ligand gene DOID:9004511 Congenital Disorder of Glycosylation Type IIz ISO RGD:1347931 D RGD:7240710 20230125 OMIM 12345953 CAMLG calcium modulating ligand gene DOID:9004511 Congenital Disorder of Glycosylation Type IIz ISO RGD:1347931 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIz PMID:35262690 12345953 CAMLG calcium modulating ligand gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347931 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12345961 CTNNA1 catenin alpha 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1348842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12345961 CTNNA1 catenin alpha 1 gene DOID:0060863 patterned macular dystrophy ISO RGD:1348842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26691986 12345961 CTNNA1 catenin alpha 1 gene DOID:0060864 patterned macular dystrophy 2 ISO RGD:1348842 D RGD:7240710 20190315 OMIM 12345961 CTNNA1 catenin alpha 1 gene DOID:0060864 patterned macular dystrophy 2 ISO RGD:1348842 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Patterned macular dystrophy 2 PMID:25741868|PMID:26691986|PMID:28041643|PMID:28492532|PMID:32051609|PMID:33137351|PMID:33435129|PMID:5442145 12345961 CTNNA1 catenin alpha 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1348842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12345961 CTNNA1 catenin alpha 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348842 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12345961 CTNNA1 catenin alpha 1 gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:1348842 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:28492532|PMID:30515673|PMID:32051609 12345961 CTNNA1 catenin alpha 1 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1348842 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12345961 CTNNA1 catenin alpha 1 gene DOID:0111685 hereditary mixed polyposis syndrome 1 ISO RGD:1348842 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1 PMID:28492532|PMID:32051609 12345961 CTNNA1 catenin alpha 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1348842 D RGD:9068941 20200609 RGD PMID:17639504|REF_RGD_ID:2289791 12345961 CTNNA1 catenin alpha 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1348842 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:16334164|REF_RGD_ID:2289793 12345961 CTNNA1 catenin alpha 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1348842 D RGD:9068941 20200609 RGD PMID:17760743|REF_RGD_ID:2289491 12345961 CTNNA1 catenin alpha 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1348842 D RGD:9068941 20200609 RGD PMID:16426728|REF_RGD_ID:2298486 12345961 CTNNA1 catenin alpha 1 gene DOID:3457 invasive lobular carcinoma ISO RGD:1348842 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:12047765|REF_RGD_ID:2289795 12345961 CTNNA1 catenin alpha 1 gene DOID:3905 lung carcinoma ISO RGD:1359485 D RGD:9068941 20200609 RGD PMID:15195114|REF_RGD_ID:2289804 12345961 CTNNA1 catenin alpha 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1348842 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:9355975|REF_RGD_ID:2289799 12345961 CTNNA1 catenin alpha 1 gene DOID:5041 esophageal cancer disease_progression ISO RGD:1359485 D RGD:9068941 20200609 RGD PMID:9863006|REF_RGD_ID:2289811 12345961 CTNNA1 catenin alpha 1 gene DOID:5419 schizophrenia ISO RGD:1348842 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12345961 CTNNA1 catenin alpha 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12345961 CTNNA1 catenin alpha 1 gene DOID:630 genetic disease ISO RGD:1348842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12345961 CTNNA1 catenin alpha 1 gene DOID:8501 fundus dystrophy ISO RGD:1348842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28041643|PMID:28492532|PMID:30515673|PMID:32051609|PMID:33137351 12345961 CTNNA1 catenin alpha 1 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1348842 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:11161853|REF_RGD_ID:2289797 12345961 CTNNA1 catenin alpha 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1348842 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:12047765|REF_RGD_ID:2289795 12345961 CTNNA1 catenin alpha 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1348842 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:9522220|REF_RGD_ID:2289798 12345961 CTNNA1 catenin alpha 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1348842 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:11161853|REF_RGD_ID:2289797 12345961 CTNNA1 catenin alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12345961 CTNNA1 catenin alpha 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17576681|PMID:18487285|PMID:19279422|PMID:21643010|PMID:23208944|PMID:25741868|PMID:26182300|PMID:26691986|PMID:26845104|PMID:28166811|PMID:28455161|PMID:28492532|PMID:29330337|PMID:9536098 12345961 CTNNA1 catenin alpha 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348842 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:25741868|PMID:26691986|PMID:26845104|PMID:28041643|PMID:28492532|PMID:29330337|PMID:30515673|PMID:32051609|PMID:32717343|PMID:33137351|PMID:33435129|PMID:9536098 12345961 CTNNA1 catenin alpha 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348842 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:25741868|PMID:26691986|PMID:26845104|PMID:28041643|PMID:28492532|PMID:29330337|PMID:30515673|PMID:32051609|PMID:32717343|PMID:33137351|PMID:33435129|PMID:9536098 12345961 CTNNA1 catenin alpha 1 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:1348842 D RGD:9068941 20200609 RGD PMID:16803534|REF_RGD_ID:2298485 12345961 CTNNA1 catenin alpha 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1348842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:31292255 12345961 CTNNA1 catenin alpha 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1348842 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:17223851|REF_RGD_ID:2289792 12345961 CTNNA1 catenin alpha 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1348842 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:11431364|REF_RGD_ID:2289796 12345961 CTNNA1 catenin alpha 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1348842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12345961 CTNNA1 catenin alpha 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12345961 CTNNA1 catenin alpha 1 gene DOID:9256 colorectal cancer ISO RGD:1348842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:28492532 12345983 HSP90AB1 heat shock protein 90 alpha family class B member 1 gene DOID:2377 multiple sclerosis ISO RGD:1346893 D RGD:9068941 20200609 RGD PMID:14688203|REF_RGD_ID:5686803 12345983 HSP90AB1 heat shock protein 90 alpha family class B member 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1303075 D RGD:9068941 20200609 RGD protein:decreased expression:lung (rat) PMID:24670792|REF_RGD_ID:10445835 12345983 HSP90AB1 heat shock protein 90 alpha family class B member 1 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1346893 D RGD:9068941 20220519 RGD protein:increased expression:liver (human) PMID:24796583|REF_RGD_ID:152177907 12345983 HSP90AB1 heat shock protein 90 alpha family class B member 1 gene DOID:4989 pancreatitis ISO RGD:1303075 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:19346995|REF_RGD_ID:5686868 12345983 HSP90AB1 heat shock protein 90 alpha family class B member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1346893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12345983 HSP90AB1 heat shock protein 90 alpha family class B member 1 gene DOID:630 genetic disease ISO RGD:1346893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12345983 HSP90AB1 heat shock protein 90 alpha family class B member 1 gene DOID:767 muscular atrophy ISO RGD:1303075 D RGD:9068941 20200609 RGD mRNA:decreased expression:soleus muscle (rat) PMID:21639837|REF_RGD_ID:5686383 12345983 HSP90AB1 heat shock protein 90 alpha family class B member 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1303075 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord (rat) PMID:24499940|REF_RGD_ID:10445836 12345983 HSP90AB1 heat shock protein 90 alpha family class B member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 12345983 HSP90AB1 heat shock protein 90 alpha family class B member 1 gene DOID:9007456 Female Infertility ISO RGD:1346893 D RGD:9068941 20200609 RGD PMID:19022436|REF_RGD_ID:10445839 12346002 TRIM33 tripartite motif containing 33 gene DOID:0080690 RASopathy ISO RGD:1316478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12346002 TRIM33 tripartite motif containing 33 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1316478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 12346002 TRIM33 tripartite motif containing 33 gene DOID:2394 ovarian cancer ISO RGD:1316478 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 12346002 TRIM33 tripartite motif containing 33 gene DOID:630 genetic disease ISO RGD:1316478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346026 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:0060478 Zika fever ISO RGD:732704 D RGD:9068941 20200702 RGD mRNA:increased expression:brain PMID:30241539|REF_RGD_ID:32733625 12346026 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:10241 thalassemia ISO RGD:732704 D RGD:9068941 20220825 MouseDO 12346026 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:224 transient cerebral ischemia ISO RGD:621526 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:15255948|REF_RGD_ID:9999154 12346026 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:2316 brain ischemia ISO RGD:621526 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, caudate nucleus (rat) PMID:15713259|REF_RGD_ID:9999408 12346026 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:3213 demyelinating disease severity ISO RGD:732704 D RGD:9068941 20200609 RGD PMID:18818381|REF_RGD_ID:9999156 12346026 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732704 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, astrocyte, microglia (mouse) PMID:23118353|REF_RGD_ID:9999418 12346026 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:630 genetic disease ISO RGD:1342864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346026 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:9000039 Spinal Cord Injuries ISO RGD:1342864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 12346026 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:9000039 Spinal Cord Injuries ISO RGD:621526 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord (rat) PMID:17578450|REF_RGD_ID:9999410 12346026 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1342864 D RGD:9068941 20200702 RGD mRNA,protein:increased expression:liver PMID:26234401|REF_RGD_ID:32716425 12346026 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:9002804 Amaurosis Fugax ISO RGD:732704 D RGD:9068941 20200609 RGD mRNA:increased expression:neuroretina (mouse) PMID:17975099|REF_RGD_ID:9999160 12346026 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:9002884 Emphysema ISO RGD:621526 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:22675432|REF_RGD_ID:9999407 12346026 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:9007096 Stroke treatment ISO RGD:621526 D RGD:9068941 20200609 RGD PMID:24573692|REF_RGD_ID:9999417 12346026 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:1342864 D RGD:9068941 20200609 RGD mRNA:increased expression:jejunum (human) PMID:20965186|REF_RGD_ID:9999150 12346026 PPP1R15A protein phosphatase 1 regulatory subunit 15A gene DOID:9008163 Chronic Hepatitis B ISO RGD:1342864 D RGD:9068941 20200702 RGD mRNA,protein:increased expression:liver PMID:26234401|REF_RGD_ID:32716425 12346036 STK38L serine/threonine kinase 38 like gene DOID:630 genetic disease ISO RGD:1353936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346036 STK38L serine/threonine kinase 38 like gene DOID:8466 retinal degeneration IAGP D RGD:12801476 20230503 OMIA Early retinal degeneration PMID:3496233|PMID:2558906|PMID:10409424|PMID:12909371|PMID:20887780|PMID:21980341|PMID:22065099|PMID:24367709|PMID:24581223|PMID:30135513|PMID:30050836 12346065 RBL2 RB transcriptional corepressor like 2 gene DOID:630 genetic disease ISO RGD:733260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346065 RBL2 RB transcriptional corepressor like 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12346065 RBL2 RB transcriptional corepressor like 2 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:733260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16038780 12346065 RBL2 RB transcriptional corepressor like 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733260 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16936753 12346065 RBL2 RB transcriptional corepressor like 2 gene DOID:9003939 BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME ISO RGD:733260 D RGD:7240710 20220316 OMIM 12346065 RBL2 RB transcriptional corepressor like 2 gene DOID:9003939 BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME ISO RGD:733260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brunet-Wagner neurodevelopmental syndrome PMID:25741868|PMID:32105419 12346091 IKBKE inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1318072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12346091 IKBKE inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:12849 autistic disorder ISO RGD:1318072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12346091 IKBKE inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:1540 parathyroid carcinoma ISO RGD:1318072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12346091 IKBKE inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:630 genetic disease ISO RGD:1318072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346091 IKBKE inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1318072 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12346091 IKBKE inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12346146 KLHDC9 kelch domain containing 9 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1605002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12346146 KLHDC9 kelch domain containing 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1605002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12346146 KLHDC9 kelch domain containing 9 gene DOID:630 genetic disease ISO RGD:1605002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346146 KLHDC9 kelch domain containing 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12346154 S100A1 S100 calcium binding protein A1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1349517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12346154 S100A1 S100 calcium binding protein A1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1349517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12346154 S100A1 S100 calcium binding protein A1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1349517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12346154 S100A1 S100 calcium binding protein A1 gene DOID:13100 intracranial vasospasm ISO RGD:1349517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12186470 12346154 S100A1 S100 calcium binding protein A1 gene DOID:1540 parathyroid carcinoma ISO RGD:1349517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12346154 S100A1 S100 calcium binding protein A1 gene DOID:5812 MHC class II deficiency ISO RGD:1349517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12346154 S100A1 S100 calcium binding protein A1 gene DOID:630 genetic disease ISO RGD:1349517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346154 S100A1 S100 calcium binding protein A1 gene DOID:9003936 Cardiomegaly ISO RGD:3614 D RGD:9068941 20200609 RGD PMID:12619862|REF_RGD_ID:735233 12346154 S100A1 S100 calcium binding protein A1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1349517 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:10924368|REF_RGD_ID:1579977 12346154 S100A1 S100 calcium binding protein A1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12346161 GPR107 G protein-coupled receptor 107 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1314180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12346161 GPR107 G protein-coupled receptor 107 gene DOID:630 genetic disease ISO RGD:1314180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346188 RPL10 ribosomal protein L10 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1350175 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12346188 RPL10 ribosomal protein L10 gene DOID:0050476 Barth syndrome ISO RGD:1350175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12346188 RPL10 ribosomal protein L10 gene DOID:0050800 creatine transporter deficiency ISO RGD:1350175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12346188 RPL10 ribosomal protein L10 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12346188 RPL10 ribosomal protein L10 gene DOID:0080241 syndromic X-linked mental retardation 35 ISO RGD:1350175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 PMID:18258260|PMID:25316788|PMID:25741868|PMID:25846674|PMID:26290468|PMID:7626060 12346188 RPL10 ribosomal protein L10 gene DOID:0080241 syndromic X-linked mental retardation 35 susceptibility ISO RGD:1350175 D RGD:7240710 20230517 OMIM 12346188 RPL10 ribosomal protein L10 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1350175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 12346188 RPL10 ribosomal protein L10 gene DOID:0112003 immunodeficiency 33 ISO RGD:1350175 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12346188 RPL10 ribosomal protein L10 gene DOID:10588 adrenoleukodystrophy ISO RGD:1350175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12346188 RPL10 ribosomal protein L10 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1350175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12346188 RPL10 ribosomal protein L10 gene DOID:12849 autistic disorder ISO RGD:1350175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 5 PMID:16940977|PMID:21567917|PMID:21681106|PMID:25316788|PMID:30208311 12346188 RPL10 ribosomal protein L10 gene DOID:12849 autistic disorder susceptibility ISO RGD:1350175 D RGD:7240710 20230517 OMIM 12346188 RPL10 ribosomal protein L10 gene DOID:13628 favism ISO RGD:1350175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12346188 RPL10 ribosomal protein L10 gene DOID:2729 dyskeratosis congenita ISO RGD:1350175 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12346188 RPL10 ribosomal protein L10 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1350175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23263491 12346188 RPL10 ribosomal protein L10 gene DOID:607 paraplegia ISO RGD:1350175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12346188 RPL10 ribosomal protein L10 gene DOID:630 genetic disease ISO RGD:1350175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12346188 RPL10 ribosomal protein L10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12346188 RPL10 ribosomal protein L10 gene DOID:9002720 Splenomegaly ISO RGD:1350175 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12346207 LTB lymphotoxin beta gene DOID:0050553 JMP syndrome ISO RGD:1353964 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12346207 LTB lymphotoxin beta gene DOID:11372 megacolon ISO RGD:1353964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12346207 LTB lymphotoxin beta gene DOID:2773 contact dermatitis ISO RGD:1551006 D RGD:9068941 20200609 RGD PMID:11390430|REF_RGD_ID:8548819 12346207 LTB lymphotoxin beta gene DOID:630 genetic disease ISO RGD:1353964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346207 LTB lymphotoxin beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12346207 LTB lymphotoxin beta gene DOID:9111 cutaneous leishmaniasis ISO RGD:1551006 D RGD:9068941 20200609 RGD PMID:17911622|REF_RGD_ID:8548820 12346207 LTB lymphotoxin beta gene DOID:9146 visceral leishmaniasis ISO RGD:1551006 D RGD:9068941 20200609 RGD PMID:12115620|REF_RGD_ID:8548822 12346217 TOGARAM2 TOG array regulator of axonemal microtubules 2 gene DOID:630 genetic disease ISO RGD:1603353 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346217 TOGARAM2 TOG array regulator of axonemal microtubules 2 gene DOID:9009095 Neuroblastoma 3 ISO RGD:1603353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 PMID:28492532 12346260 COLGALT1 collagen beta(1-O)galactosyltransferase 1 gene DOID:0112315 brain small vessel disease 3 ISO RGD:1344980 D RGD:7240710 20190911 OMIM 12346260 COLGALT1 collagen beta(1-O)galactosyltransferase 1 gene DOID:0112315 brain small vessel disease 3 ISO RGD:1344980 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brain small vessel disease 3 PMID:25741868|PMID:30412317 12346260 COLGALT1 collagen beta(1-O)galactosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1344980 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33077954 12346260 COLGALT1 collagen beta(1-O)galactosyltransferase 1 gene DOID:8725 vascular dementia ISO RGD:1344980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 12346276 GDPD4 glycerophosphodiester phosphodiesterase domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1602967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12346276 GDPD4 glycerophosphodiester phosphodiesterase domain containing 4 gene DOID:630 genetic disease ISO RGD:1602967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346305 SLC33A1 solute carrier family 33 member 1 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:732825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant 12346305 SLC33A1 solute carrier family 33 member 1 gene DOID:0110794 hereditary spastic paraplegia 42 ISO RGD:732825 D RGD:7240710 20180130 OMIM 12346305 SLC33A1 solute carrier family 33 member 1 gene DOID:0110794 hereditary spastic paraplegia 42 ISO RGD:732825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 42 PMID:19061983|PMID:24583203|PMID:25402622|PMID:25741868|PMID:26467025|PMID:28492532 12346305 SLC33A1 solute carrier family 33 member 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:732825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:24583203|PMID:25741868|PMID:26467025|PMID:28492532 12346305 SLC33A1 solute carrier family 33 member 1 gene DOID:607 paraplegia ISO RGD:732825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:22243965|PMID:24583203|PMID:25741868|PMID:26467025|PMID:27306358|PMID:28492532 12346305 SLC33A1 solute carrier family 33 member 1 gene DOID:630 genetic disease ISO RGD:732825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12346305 SLC33A1 solute carrier family 33 member 1 gene DOID:83 cataract ISO RGD:732825 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22243965 12346305 SLC33A1 solute carrier family 33 member 1 gene DOID:9004538 Hearing Loss ISO RGD:732825 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22243965 12346305 SLC33A1 solute carrier family 33 member 1 gene DOID:9005895 Congenital Cataracts, Hearing Loss, and Neurodegeneration ISO RGD:732825 D RGD:7240710 20180130 OMIM 12346305 SLC33A1 solute carrier family 33 member 1 gene DOID:9005895 Congenital Cataracts, Hearing Loss, and Neurodegeneration ISO RGD:732825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataracts, hearing loss, and neurodegeneration PMID:15902551|PMID:22243965|PMID:22508683|PMID:25741868|PMID:28492532|PMID:31194315 12346305 SLC33A1 solute carrier family 33 member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:732825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 12346315 LOC486150 thiamine transporter 2-like gene DOID:0050659 biotin-responsive basal ganglia disease ISO RGD:1604331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Biotin-responsive basal ganglia disease 12346334 MTARC1 mitochondrial amidoxime reducing component 1 gene DOID:0050439 Usher syndrome ISO RGD:1604320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 12346334 MTARC1 mitochondrial amidoxime reducing component 1 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1604320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12346334 MTARC1 mitochondrial amidoxime reducing component 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1604320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12346334 MTARC1 mitochondrial amidoxime reducing component 1 gene DOID:630 genetic disease ISO RGD:1604320 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346334 MTARC1 mitochondrial amidoxime reducing component 1 gene DOID:670 amphetamine abuse ISO RGD:1604320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12346334 MTARC1 mitochondrial amidoxime reducing component 1 gene DOID:9006949 Martsolf Syndrome ISO RGD:1604320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 12346334 MTARC1 mitochondrial amidoxime reducing component 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12346349 SAXO2 stabilizer of axonemal microtubules 2 gene DOID:2717 Bloom syndrome ISO RGD:1606117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12346349 SAXO2 stabilizer of axonemal microtubules 2 gene DOID:630 genetic disease ISO RGD:1606117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346349 SAXO2 stabilizer of axonemal microtubules 2 gene DOID:9256 colorectal cancer ISO RGD:1606117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12346360 NLRX1 NLR family member X1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1606225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12346360 NLRX1 NLR family member X1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1606225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12346360 NLRX1 NLR family member X1 gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1606225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:22742743|PMID:28492532 12346360 NLRX1 NLR family member X1 gene DOID:0080690 RASopathy ISO RGD:1606225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 12346360 NLRX1 NLR family member X1 gene DOID:0110651 long QT syndrome 10 ISO RGD:1606225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12346360 NLRX1 NLR family member X1 gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1606225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:22742743|PMID:28492532 12346360 NLRX1 NLR family member X1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1606225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12346360 NLRX1 NLR family member X1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1606225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12346360 NLRX1 NLR family member X1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1606225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12346360 NLRX1 NLR family member X1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1606225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12346360 NLRX1 NLR family member X1 gene DOID:2843 long QT syndrome ISO RGD:1606225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12346360 NLRX1 NLR family member X1 gene DOID:5419 schizophrenia ISO RGD:1606225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12346360 NLRX1 NLR family member X1 gene DOID:630 genetic disease ISO RGD:1606225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346360 NLRX1 NLR family member X1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12346360 NLRX1 NLR family member X1 gene DOID:9007661 Dwarfism ISO RGD:1606225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12346380 S100A3 S100 calcium binding protein A3 gene DOID:0111940 immunodeficiency 42 ISO RGD:732253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12346380 S100A3 S100 calcium binding protein A3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12346380 S100A3 S100 calcium binding protein A3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12346380 S100A3 S100 calcium binding protein A3 gene DOID:10283 prostate cancer ISO RGD:732253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12346380 S100A3 S100 calcium binding protein A3 gene DOID:1540 parathyroid carcinoma ISO RGD:732253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12346380 S100A3 S100 calcium binding protein A3 gene DOID:5812 MHC class II deficiency ISO RGD:732253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12346380 S100A3 S100 calcium binding protein A3 gene DOID:630 genetic disease ISO RGD:732253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346380 S100A3 S100 calcium binding protein A3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12346390 FOXK2 forkhead box K2 gene DOID:12336 male infertility ISO RGD:1313423 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32522586 12346390 FOXK2 forkhead box K2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1313423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:28492532 12346390 FOXK2 forkhead box K2 gene DOID:630 genetic disease ISO RGD:1313423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346391 KLHL13 kelch like family member 13 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12346391 KLHL13 kelch like family member 13 gene DOID:12849 autistic disorder ISO RGD:1342476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12346391 KLHL13 kelch like family member 13 gene DOID:630 genetic disease ISO RGD:1342476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346427 NUP88 nucleoporin 88 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:733611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 12346427 NUP88 nucleoporin 88 gene DOID:0111379 fetal akinesia deformation sequence syndrome 4 ISO RGD:733611 D RGD:7240710 20190515 OMIM 12346427 NUP88 nucleoporin 88 gene DOID:0111379 fetal akinesia deformation sequence syndrome 4 ISO RGD:733611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 PMID:25741868|PMID:30543681 12346427 NUP88 nucleoporin 88 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12346427 NUP88 nucleoporin 88 gene DOID:630 genetic disease ISO RGD:733611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346448 BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:0060474 familial erythrocytosis 2 ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chuvash polycythemia PMID:10567493|PMID:10830910|PMID:17537157|PMID:19280651|PMID:19764026|PMID:20567917|PMID:28492532|PMID:8634692 12346448 BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1352437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 12346448 BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 12346448 BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:13636 Fanconi anemia ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:17436244|PMID:28492532 12346448 BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:14175 von Hippel-Lindau disease ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Von Hippel-Lindau syndrome PMID:25741868 12346448 BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12346448 BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 12346448 BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:25516202|PMID:28492532 12346455 AGTRAP angiotensin II receptor associated protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1350151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12346455 AGTRAP angiotensin II receptor associated protein gene DOID:0060158 acquired metabolic disease ISO RGD:1552153 D RGD:9068941 20220825 MouseDO 12346455 AGTRAP angiotensin II receptor associated protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1350151 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12346455 AGTRAP angiotensin II receptor associated protein gene DOID:10763 hypertension ISO RGD:1359346 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:18725581|REF_RGD_ID:2314351 12346455 AGTRAP angiotensin II receptor associated protein gene DOID:630 genetic disease ISO RGD:1350151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346455 AGTRAP angiotensin II receptor associated protein gene DOID:9003936 Cardiomegaly ISO RGD:1359346 D RGD:9068941 20200609 RGD PMID:18725581|REF_RGD_ID:2314351 12346455 AGTRAP angiotensin II receptor associated protein gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1350151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 12346471 NRN1L neuritin 1 like gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12346471 NRN1L neuritin 1 like gene DOID:630 genetic disease ISO RGD:1605881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346480 CLTRN collectrin, amino acid transport regulator gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12346480 CLTRN collectrin, amino acid transport regulator gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1354044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 12346480 CLTRN collectrin, amino acid transport regulator gene DOID:12849 autistic disorder ISO RGD:1354044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12346480 CLTRN collectrin, amino acid transport regulator gene DOID:13636 Fanconi anemia ISO RGD:1354044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 12346480 CLTRN collectrin, amino acid transport regulator gene DOID:5199 ureteral obstruction ISO RGD:1354044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12887829 12346480 CLTRN collectrin, amino acid transport regulator gene DOID:630 genetic disease ISO RGD:1354044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346480 CLTRN collectrin, amino acid transport regulator gene DOID:684 hepatocellular carcinoma ISO RGD:1354044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12346480 CLTRN collectrin, amino acid transport regulator gene DOID:9002207 Renal Aminoacidurias ISO RGD:1354044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aminoaciduria 12346480 CLTRN collectrin, amino acid transport regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12346490 TCF12 transcription factor 12 gene DOID:2340 craniosynostosis ISO RGD:731955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23354436 12346490 TCF12 transcription factor 12 gene DOID:2717 Bloom syndrome ISO RGD:731955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12346490 TCF12 transcription factor 12 gene DOID:3614 Kallmann syndrome ISO RGD:731955 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadism with anosmia PMID:25741868|PMID:32629054 12346490 TCF12 transcription factor 12 gene DOID:630 genetic disease ISO RGD:731955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:31754721 12346490 TCF12 transcription factor 12 gene DOID:9002666 Hypogonadotropic Hypogonadism 26 with or without Anosmia ISO RGD:731955 D RGD:7240710 20220202 OMIM 12346490 TCF12 transcription factor 12 gene DOID:9002666 Hypogonadotropic Hypogonadism 26 with or without Anosmia ISO RGD:731955 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 26 with or without anosmia PMID:23354436|PMID:25741868|PMID:28492532|PMID:32620954 12346490 TCF12 transcription factor 12 gene DOID:9002862 Craniosynostosis 3 ISO RGD:731955 D RGD:7240710 20180130 OMIM 12346490 TCF12 transcription factor 12 gene DOID:9002862 Craniosynostosis 3 ISO RGD:731955 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Coronal craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 3 PMID:23354436|PMID:24736737|PMID:25271085|PMID:25741868|PMID:28492532|PMID:28808027|PMID:29215649|PMID:30038786|PMID:32620954|PMID:34906502 12346490 TCF12 transcription factor 12 gene DOID:9008086 Developmental Disabilities ISO RGD:731955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay PMID:36937954 12346490 TCF12 transcription factor 12 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:731955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:30038786|PMID:31837199 12346490 TCF12 transcription factor 12 gene DOID:9008582 Developmental Disease ISO RGD:731955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12346490 TCF12 transcription factor 12 gene DOID:9256 colorectal cancer ISO RGD:731955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12346549 MIR29C-1 microRNA mir-29c-1 gene DOID:12858 Huntington's disease ISO RGD:1607662 D RGD:9068941 20200609 RGD down-regulated PMID:21035445|REF_RGD_ID:11041745 12346621 CYP51A1 cytochrome P450 family 51 subfamily A member 1 gene DOID:0060669 cerebral cavernous malformation ISO RGD:1345262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 12346621 CYP51A1 cytochrome P450 family 51 subfamily A member 1 gene DOID:0081289 Antley-Bixler syndrome ISO RGD:70832 D RGD:9068941 20210226 RGD PMID:21705796|REF_RGD_ID:41412188 12346621 CYP51A1 cytochrome P450 family 51 subfamily A member 1 gene DOID:2843 long QT syndrome ISO RGD:1345262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12346621 CYP51A1 cytochrome P450 family 51 subfamily A member 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12346621 CYP51A1 cytochrome P450 family 51 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1345262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346621 CYP51A1 cytochrome P450 family 51 subfamily A member 1 gene DOID:83 cataract ISO RGD:1345262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 12346621 CYP51A1 cytochrome P450 family 51 subfamily A member 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:2481 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:16472823|REF_RGD_ID:13782194 12346621 CYP51A1 cytochrome P450 family 51 subfamily A member 1 gene DOID:9351 diabetes mellitus ISO RGD:2481 D RGD:9068941 20210219 RGD mRNA,protein:decreased expression:liver PMID:10876162|REF_RGD_ID:41412168 12346640 RAB2B RAB2B, member RAS oncogene family gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1319277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11528500|PMID:23105016|PMID:28492532 12346640 RAB2B RAB2B, member RAS oncogene family gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1319277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12346640 RAB2B RAB2B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1319277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346640 RAB2B RAB2B, member RAS oncogene family gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319277 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12346652 FXYD1 FXYD domain containing ion transport regulator 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:734187 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12346652 FXYD1 FXYD domain containing ion transport regulator 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:734187 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12346652 FXYD1 FXYD domain containing ion transport regulator 1 gene DOID:543 dystonia ISO RGD:734187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12346652 FXYD1 FXYD domain containing ion transport regulator 1 gene DOID:6000 congestive heart failure ISO RGD:69306 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:heart, membrane PMID:26668322|REF_RGD_ID:11526267 12346652 FXYD1 FXYD domain containing ion transport regulator 1 gene DOID:630 genetic disease ISO RGD:734187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346652 FXYD1 FXYD domain containing ion transport regulator 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:737203 D RGD:9068941 20200609 RGD PMID:24218169|REF_RGD_ID:9685471 12346652 FXYD1 FXYD domain containing ion transport regulator 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:69306 D RGD:9068941 20200609 RGD PMID:14597563|REF_RGD_ID:9685466 12346687 FARSA phenylalanyl-tRNA synthetase subunit alpha gene DOID:0050990 episodic ataxia type 2 ISO RGD:1321146 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12346687 FARSA phenylalanyl-tRNA synthetase subunit alpha gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1321146 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12346687 FARSA phenylalanyl-tRNA synthetase subunit alpha gene DOID:0111254 glutaric acidemia I ISO RGD:1321146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12346687 FARSA phenylalanyl-tRNA synthetase subunit alpha gene DOID:3413 alpha-mannosidosis ISO RGD:1321146 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12346687 FARSA phenylalanyl-tRNA synthetase subunit alpha gene DOID:630 genetic disease ISO RGD:1321146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346687 FARSA phenylalanyl-tRNA synthetase subunit alpha gene DOID:9001670 Rajab Interstitial Lung Disease with Brain Calcifications 2 ISO RGD:1321146 D RGD:7240710 20200930 OMIM 12346687 FARSA phenylalanyl-tRNA synthetase subunit alpha gene DOID:9001670 Rajab Interstitial Lung Disease with Brain Calcifications 2 ISO RGD:1321146 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 2 PMID:25741868|PMID:31355908 12346704 TRIR telomerase RNA component interacting RNase gene DOID:0050990 episodic ataxia type 2 ISO RGD:1604305 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12346704 TRIR telomerase RNA component interacting RNase gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1604305 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12346704 TRIR telomerase RNA component interacting RNase gene DOID:0111254 glutaric acidemia I ISO RGD:1604305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12346704 TRIR telomerase RNA component interacting RNase gene DOID:3413 alpha-mannosidosis ISO RGD:1604305 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12346711 ATAD3A ATPase family AAA domain containing 3A gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1314304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12346711 ATAD3A ATPase family AAA domain containing 3A gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1314304 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12346711 ATAD3A ATPase family AAA domain containing 3A gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1314304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12346711 ATAD3A ATPase family AAA domain containing 3A gene DOID:0070338 cerebellar hypoplasia ISO RGD:1314304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:31727539 12346711 ATAD3A ATPase family AAA domain containing 3A gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1314304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12346711 ATAD3A ATPase family AAA domain containing 3A gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1314304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12346711 ATAD3A ATPase family AAA domain containing 3A gene DOID:0110994 Joubert syndrome 25 ISO RGD:1314304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12346711 ATAD3A ATPase family AAA domain containing 3A gene DOID:0111934 immunodeficiency 38 ISO RGD:1314304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12346711 ATAD3A ATPase family AAA domain containing 3A gene DOID:0111935 immunodeficiency 16 ISO RGD:1314304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12346711 ATAD3A ATPase family AAA domain containing 3A gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1314304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12346711 ATAD3A ATPase family AAA domain containing 3A gene DOID:630 genetic disease ISO RGD:1314304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:33023636 12346711 ATAD3A ATPase family AAA domain containing 3A gene DOID:9000870 PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL ISO RGD:1314304 D RGD:7240710 20200819 OMIM 12346711 ATAD3A ATPase family AAA domain containing 3A gene DOID:9000870 PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL ISO RGD:1314304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal PMID:25741868|PMID:29053797|PMID:29053800|PMID:31727539 12346711 ATAD3A ATPase family AAA domain containing 3A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21584487 12346711 ATAD3A ATPase family AAA domain containing 3A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12346711 ATAD3A ATPase family AAA domain containing 3A gene DOID:9006186 Harel-Yoon Syndrome ISO RGD:1314304 D RGD:7240710 20190315 OMIM 12346711 ATAD3A ATPase family AAA domain containing 3A gene DOID:9006186 Harel-Yoon Syndrome ISO RGD:1314304 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Harel-Yoon syndrome PMID:25741868|PMID:27640307|PMID:28492532 12346711 ATAD3A ATPase family AAA domain containing 3A gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1314304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12346711 ATAD3A ATPase family AAA domain containing 3A gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1314304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12346731 CCDC47 coiled-coil domain containing 47 gene DOID:630 genetic disease ISO RGD:1603982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346731 CCDC47 coiled-coil domain containing 47 gene DOID:9007682 Trichohepatoneurodevelopmental Syndrome ISO RGD:1603982 D RGD:7240710 20190410 OMIM 12346731 CCDC47 coiled-coil domain containing 47 gene DOID:9007682 Trichohepatoneurodevelopmental Syndrome ISO RGD:1603982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichohepatoneurodevelopmental syndrome PMID:25741868|PMID:30401460 12346748 VMA21 vacuolar ATPase assembly factor VMA21 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:1604972 D RGD:7240710 20180130 OMIM 12346748 VMA21 vacuolar ATPase assembly factor VMA21 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:1604972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy PMID:10063835|PMID:10449925|PMID:15725586|PMID:16217076|PMID:17576681|PMID:20434914|PMID:23315026|PMID:23850239|PMID:24488655|PMID:25683699|PMID:25741868|PMID:25809233|PMID:25817839|PMID:28492532|PMID:9305655|PMID:9536098 12346748 VMA21 vacuolar ATPase assembly factor VMA21 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12346748 VMA21 vacuolar ATPase assembly factor VMA21 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:1604972 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 12346748 VMA21 vacuolar ATPase assembly factor VMA21 gene DOID:12849 autistic disorder ISO RGD:1604972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12346748 VMA21 vacuolar ATPase assembly factor VMA21 gene DOID:630 genetic disease ISO RGD:1604972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23315026|PMID:25809233|PMID:28492532|PMID:9536098 12346769 NCK2 NCK adaptor protein 2 gene DOID:10652 Alzheimer's disease ISO RGD:1314306 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 12346769 NCK2 NCK adaptor protein 2 gene DOID:1184 nephrotic syndrome ISO RGD:1314306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19443634 12346769 NCK2 NCK adaptor protein 2 gene DOID:576 proteinuria ISO RGD:1314306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19443634 12346769 NCK2 NCK adaptor protein 2 gene DOID:630 genetic disease ISO RGD:1314306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346769 NCK2 NCK adaptor protein 2 gene DOID:9001542 Albuminuria ISO RGD:1314306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19443634 12346789 GALR2 galanin receptor 2 gene DOID:1470 major depressive disorder ISO RGD:733781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27940914 12346789 GALR2 galanin receptor 2 gene DOID:630 genetic disease ISO RGD:733781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346795 TBC1D32 TBC1 domain family member 32 gene DOID:0050545 visceral heterotaxy ISO RGD:1613911 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 12346795 TBC1D32 TBC1 domain family member 32 gene DOID:0050778 Meckel syndrome ISO RGD:1613911 D RGD:9068941 20220825 MouseDO 12346795 TBC1D32 TBC1 domain family member 32 gene DOID:10907 microcephaly ISO RGD:1345789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12346795 TBC1D32 TBC1 domain family member 32 gene DOID:14679 VACTERL association ISO RGD:1613911 D RGD:9068941 20220825 MouseDO OMIM:192350 | OMIM:276950 12346795 TBC1D32 TBC1 domain family member 32 gene DOID:1826 epilepsy ISO RGD:1345789 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12346795 TBC1D32 TBC1 domain family member 32 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1613911 D RGD:9068941 20220825 MouseDO 12346795 TBC1D32 TBC1 domain family member 32 gene DOID:630 genetic disease ISO RGD:1345789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12346795 TBC1D32 TBC1 domain family member 32 gene DOID:9004641 Oculodentodigital Dysplasia, Autosomal Recessive ISO RGD:1345789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive PMID:28492532 12346837 VN1R4 vomeronasal 1 receptor 4 gene DOID:630 genetic disease ISO RGD:1347041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:0050912 colon adenoma ISO RGD:735457 D RGD:9068941 20220519 RGD protein:increased expression:colon (human) PMID:29079724|REF_RGD_ID:152177516 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:0060041 autism spectrum disorder ISO RGD:735457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:10283 prostate cancer ISO RGD:735457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:1059 intellectual disability ISO RGD:735457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:11446 sciatic neuropathy ISO RGD:70973 D RGD:9068941 20200609 RGD mRNA:decreased expression:spinal cord dorsal horn PMID:16026470|REF_RGD_ID:6906922 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:13884 sick sinus syndrome ISO RGD:735457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26831068 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:1826 epilepsy ISO RGD:735457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:234 colon adenocarcinoma disease_progression ISO RGD:735457 D RGD:9068941 20220519 RGD protein:increased expression:colon (human) PMID:29079724|REF_RGD_ID:152177516 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:3312 bipolar disorder ISO RGD:735457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28194001 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:446 primary hyperaldosteronism ISO RGD:735457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23913001 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:630 genetic disease ISO RGD:735457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:26680202|PMID:28492532|PMID:32561571|PMID:33432195 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:657 adenoma ISO RGD:735457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23913001|PMID:23913004 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9000006 Supraventricular Tachycardia ISO RGD:735457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26831068 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9000307 Presbycusis ISO RGD:735458 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cochlea PMID:23470431|REF_RGD_ID:10045570 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9002231 Fetal Growth Retardation ISO RGD:70973 D RGD:9068941 20220609 RGD protein:decreased expression:pancreas (rat) PMID:20873977|REF_RGD_ID:152985538 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9003163 Heart Block ISO RGD:735457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26831068 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9003830 Primary Aldosteronism, Seizures, and Neurologic Abnormalities ISO RGD:735457 D RGD:7240710 20180130 OMIM 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9003830 Primary Aldosteronism, Seizures, and Neurologic Abnormalities ISO RGD:735457 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities PMID:23913001|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28318089|PMID:28492532 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9004120 Alcohol Withdrawal Seizures susceptibility ISO RGD:70973 D RGD:9068941 20220609 RGD mRNA, protein:increased expression:inferior colliculus (rat) PMID:25556199|REF_RGD_ID:152985539 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9004538 Hearing Loss ISO RGD:735457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:16199547|PMID:28492532|PMID:30311386 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9004852 Sinoatrial Node Dysfunction and Deafness ISO RGD:735457 D RGD:7240710 20180130 OMIM 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9004852 Sinoatrial Node Dysfunction and Deafness ISO RGD:735457 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sinoatrial node dysfunction and deafness PMID:21131953|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30498240|PMID:32747562 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9006205 Animal Disease Models ISO RGD:735457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26831068 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9007001 Bradycardia ISO RGD:735457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26831068 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9008023 Memory Disorders ISO RGD:70973 D RGD:9068941 20200609 RGD PMID:12591156|REF_RGD_ID:704382 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:70973 D RGD:9068941 20200609 RGD PMID:18947822|REF_RGD_ID:6906919 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9008681 Deafness ISO RGD:735457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15357422 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9008681 Deafness ISO RGD:735458 D RGD:9068941 20200609 RGD PMID:10929716|REF_RGD_ID:1300292 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9352 type 2 diabetes mellitus ISO RGD:735457 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet: PMID:23229155|REF_RGD_ID:13506727 12346840 CACNA1D calcium voltage-gated channel subunit alpha1 D gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:735457 D RGD:9068941 20200609 RGD DNA:SNPs: :rs9841978,rs312486(human) PMID:23229155|REF_RGD_ID:13506727 12346916 PTPRU protein tyrosine phosphatase receptor type U gene DOID:10763 hypertension susceptibility ISO RGD:1331918 D RGD:9068941 20200609 RGD PMID:11086029|REF_RGD_ID:1642652 12346916 PTPRU protein tyrosine phosphatase receptor type U gene DOID:10976 membranous glomerulonephritis ISO RGD:620782 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:glomerulus PMID:17457373|REF_RGD_ID:1642654 12346916 PTPRU protein tyrosine phosphatase receptor type U gene DOID:2527 nephrosis ISO RGD:620782 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:glomerulus PMID:17457373|REF_RGD_ID:1642654 12346916 PTPRU protein tyrosine phosphatase receptor type U gene DOID:630 genetic disease ISO RGD:1353626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12346916 PTPRU protein tyrosine phosphatase receptor type U gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620782 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus PMID:16539708|REF_RGD_ID:1642656 12346916 PTPRU protein tyrosine phosphatase receptor type U gene DOID:9007661 Dwarfism ISO RGD:1353626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12346958 CA7 carbonic anhydrase 7 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1315686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12346958 CA7 carbonic anhydrase 7 gene DOID:0110255 cataract 5 multiple types ISO RGD:1315686 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 12346958 CA7 carbonic anhydrase 7 gene DOID:630 genetic disease ISO RGD:1315686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346972 METTL25B methyltransferase like 25B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1603041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12346972 METTL25B methyltransferase like 25B gene DOID:0111940 immunodeficiency 42 ISO RGD:1603041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12346972 METTL25B methyltransferase like 25B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12346972 METTL25B methyltransferase like 25B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12346972 METTL25B methyltransferase like 25B gene DOID:1540 parathyroid carcinoma ISO RGD:1603041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12346972 METTL25B methyltransferase like 25B gene DOID:5812 MHC class II deficiency ISO RGD:1603041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12346972 METTL25B methyltransferase like 25B gene DOID:630 genetic disease ISO RGD:1603041 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346972 METTL25B methyltransferase like 25B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12346997 PTPN7 protein tyrosine phosphatase non-receptor type 7 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1605720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12346997 PTPN7 protein tyrosine phosphatase non-receptor type 7 gene DOID:1540 parathyroid carcinoma ISO RGD:1605720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12346997 PTPN7 protein tyrosine phosphatase non-receptor type 7 gene DOID:630 genetic disease ISO RGD:1605720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12346997 PTPN7 protein tyrosine phosphatase non-receptor type 7 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1605720 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12346997 PTPN7 protein tyrosine phosphatase non-receptor type 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12347024 CNMD chondromodulin gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1347278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12347024 CNMD chondromodulin gene DOID:1059 intellectual disability ISO RGD:1347278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12347024 CNMD chondromodulin gene DOID:630 genetic disease ISO RGD:1347278 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347043 TBP TATA-box binding protein gene DOID:0050847 sleep apnea ISO RGD:68980 D RGD:9068941 20200609 RGD associated with Sudden Infant Death; protein:altered expression:brainstem (human) PMID:14693397|REF_RGD_ID:5684350 12347043 TBP TATA-box binding protein gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:68980 D RGD:7240710 20230517 OMIM 12347043 TBP TATA-box binding protein gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:68980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 17 PMID:25741868 12347043 TBP TATA-box binding protein gene DOID:0060892 late onset Parkinson's disease ISO RGD:68980 D RGD:7240710 20230517 OMIM 12347043 TBP TATA-box binding protein gene DOID:10652 Alzheimer's disease ISO RGD:68980 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, entorhinal cortex (human) PMID:15193429|REF_RGD_ID:5684338 12347043 TBP TATA-box binding protein gene DOID:12858 Huntington's disease severity ISO RGD:68980 D RGD:9068941 20200609 RGD protein:increased expression:middle frontal gyrus (human) PMID:12531510|REF_RGD_ID:5684339 12347043 TBP TATA-box binding protein gene DOID:13938 amenorrhea ISO RGD:68980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12347043 TBP TATA-box binding protein gene DOID:5419 schizophrenia ISO RGD:68980 D RGD:9068941 20200609 RGD DNA:repeat:cds:g.172(CAG/CAA)36 (human) PMID:16054804|REF_RGD_ID:5684344 12347043 TBP TATA-box binding protein gene DOID:630 genetic disease ISO RGD:68980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347043 TBP TATA-box binding protein gene DOID:684 hepatocellular carcinoma ISO RGD:68980 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:24033266 12347043 TBP TATA-box binding protein gene DOID:9000039 Spinal Cord Injuries ISO RGD:67398 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, astrocyte, microglial cell PMID:24710803|REF_RGD_ID:9681729 12347043 TBP TATA-box binding protein gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:68981 D RGD:9068941 20200609 RGD PMID:21705419|REF_RGD_ID:5684014 12347043 TBP TATA-box binding protein gene DOID:9002121 Spinocerebellar Ataxias onset ISO RGD:68980 D RGD:9068941 20200609 RGD DNA:repeat:cds:g.172(CAG/CAA)47-55 (human) PMID:11448935|REF_RGD_ID:5684015 12347043 TBP TATA-box binding protein gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:68980 D RGD:9068941 20200609 RGD DNA:repeat:cds:g.172(CAG/CAA)38 (human) PMID:15850778|REF_RGD_ID:5684349 12347043 TBP TATA-box binding protein gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:68980 D RGD:9068941 20200609 RGD DNA:repeat:cds:g.172(CAG/CAA)38 (human) PMID:15381080|REF_RGD_ID:5684348 12347068 C26H22orf31 chromosome 26 C22orf31 homolog gene DOID:0111252 neurofibromatosis 2 ISO RGD:1604374 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 12347068 C26H22orf31 chromosome 26 C22orf31 homolog gene DOID:0111650 ectodermal dysplasia 13 ISO RGD:1604374 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 13, hair/tooth type PMID:25741868|PMID:28492532 12347068 C26H22orf31 chromosome 26 C22orf31 homolog gene DOID:1059 intellectual disability ISO RGD:1604374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12347068 C26H22orf31 chromosome 26 C22orf31 homolog gene DOID:630 genetic disease ISO RGD:1604374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347068 C26H22orf31 chromosome 26 C22orf31 homolog gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 12347079 ZNF12 zinc finger protein 12 gene DOID:630 genetic disease ISO RGD:1349914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347098 FBXL15 F-box and leucine rich repeat protein 15 gene DOID:630 genetic disease ISO RGD:1315065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347111 LOC100856533 alcohol dehydrogenase E chain gene DOID:0060041 autism spectrum disorder ISO RGD:1349763 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12347111 LOC100856533 alcohol dehydrogenase E chain gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1349763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29718361 12347111 LOC100856533 alcohol dehydrogenase E chain gene DOID:630 genetic disease ISO RGD:1349763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347111 LOC100856533 alcohol dehydrogenase E chain gene DOID:9004590 Acute Liver Failure ISO RGD:1349763 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 12347155 ZNF112 zinc finger protein 112 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1313981 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12347155 ZNF112 zinc finger protein 112 gene DOID:630 genetic disease ISO RGD:1313981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347156 UACA uveal autoantigen with coiled-coil domains and ankyrin repeats gene DOID:0080600 COVID-19 ISO RGD:1352491 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12347156 UACA uveal autoantigen with coiled-coil domains and ankyrin repeats gene DOID:2717 Bloom syndrome ISO RGD:1352491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12347156 UACA uveal autoantigen with coiled-coil domains and ankyrin repeats gene DOID:630 genetic disease ISO RGD:1352491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347156 UACA uveal autoantigen with coiled-coil domains and ankyrin repeats gene DOID:684 hepatocellular carcinoma ISO RGD:1558458 D RGD:9068941 20220825 MouseDO OMIM:114550 12347156 UACA uveal autoantigen with coiled-coil domains and ankyrin repeats gene DOID:9256 colorectal cancer ISO RGD:1352491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12347201 UBE2L6 ubiquitin conjugating enzyme E2 L6 gene DOID:1059 intellectual disability ISO RGD:1317456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12347201 UBE2L6 ubiquitin conjugating enzyme E2 L6 gene DOID:630 genetic disease ISO RGD:1317456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347201 UBE2L6 ubiquitin conjugating enzyme E2 L6 gene DOID:9001488 Human Influenza ISO RGD:1317456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12347230 SCAMP5 secretory carrier membrane protein 5 gene DOID:12849 autistic disorder ISO RGD:1343509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20071347 12347230 SCAMP5 secretory carrier membrane protein 5 gene DOID:1826 epilepsy ISO RGD:68504 D RGD:9068941 20220825 MouseDO 12347230 SCAMP5 secretory carrier membrane protein 5 gene DOID:2717 Bloom syndrome ISO RGD:1343509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12347230 SCAMP5 secretory carrier membrane protein 5 gene DOID:5419 schizophrenia ISO RGD:1343509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12347230 SCAMP5 secretory carrier membrane protein 5 gene DOID:630 genetic disease ISO RGD:1343509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31439720|PMID:32020363|PMID:33390987 12347230 SCAMP5 secretory carrier membrane protein 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1343509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:31439720|PMID:33390987 12347230 SCAMP5 secretory carrier membrane protein 5 gene DOID:9256 colorectal cancer ISO RGD:1343509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12347244 SLC35A5 solute carrier family 35 member A5 gene DOID:0080600 COVID-19 ISO RGD:1344135 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12347244 SLC35A5 solute carrier family 35 member A5 gene DOID:630 genetic disease ISO RGD:1344135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347244 SLC35A5 solute carrier family 35 member A5 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:1344135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 12347260 SUMO1 small ubiquitin like modifier 1 gene DOID:0080403 orofacial cleft 10 ISO RGD:1315807 D RGD:7240710 20180130 OMIM 12347260 SUMO1 small ubiquitin like modifier 1 gene DOID:0080403 orofacial cleft 10 ISO RGD:1315807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofacial cleft 10 PMID:16990542 12347260 SUMO1 small ubiquitin like modifier 1 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1315807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12347260 SUMO1 small ubiquitin like modifier 1 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1315807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12347260 SUMO1 small ubiquitin like modifier 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1315807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:16429395|PMID:16429403|PMID:27453251|PMID:28492532|PMID:29743074 12347260 SUMO1 small ubiquitin like modifier 1 gene DOID:630 genetic disease ISO RGD:1315807 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347260 SUMO1 small ubiquitin like modifier 1 gene DOID:674 cleft palate ISO RGD:1315807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16990542 12347260 SUMO1 small ubiquitin like modifier 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1315807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12347260 SUMO1 small ubiquitin like modifier 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12347260 SUMO1 small ubiquitin like modifier 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1315807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 12347260 SUMO1 small ubiquitin like modifier 1 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1315807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12347260 SUMO1 small ubiquitin like modifier 1 gene DOID:9296 cleft lip ISO RGD:1315807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant 12347269 ALDH9A1 aldehyde dehydrogenase 9 family member A1 gene DOID:0080600 COVID-19 ISO RGD:68603 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12347269 ALDH9A1 aldehyde dehydrogenase 9 family member A1 gene DOID:10283 prostate cancer ISO RGD:68603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12347269 ALDH9A1 aldehyde dehydrogenase 9 family member A1 gene DOID:1540 parathyroid carcinoma ISO RGD:68603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12347269 ALDH9A1 aldehyde dehydrogenase 9 family member A1 gene DOID:630 genetic disease ISO RGD:68603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347269 ALDH9A1 aldehyde dehydrogenase 9 family member A1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12347269 ALDH9A1 aldehyde dehydrogenase 9 family member A1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:68603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12347284 ZNF18 zinc finger protein 18 gene DOID:630 genetic disease ISO RGD:1312982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:0050700 cardiomyopathy ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28445944 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:0060186 chemical colitis severity ISO RGD:1550521 D RGD:9068941 20201120 RGD Ace2 knockout PMID:22837003|REF_RGD_ID:40818307 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:0060186 chemical colitis severity ISO RGD:1550521 D RGD:9068941 20201127 RGD Ace2 inhibitor PMID:19517214|REF_RGD_ID:40818410 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:0060903 thrombosis treatment ISO RGD:728890 D RGD:9068941 20200609 RGD PMID:20111697|REF_RGD_ID:9685451 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1347174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:0080599 Coronavirus infectious disease ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14647384|PMID:16007097|PMID:19453650|PMID:19625462|PMID:22496216|PMID:23678171|PMID:24172901|PMID:24227843|PMID:25187545 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:0080600 COVID-19 ISO RGD:1347174 D RGD:9068941 20200625 RGD human gene in a mouse model PMID:32380511|REF_RGD_ID:30310239 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:0080600 COVID-19 ISO RGD:1347174 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:31996437|PMID:32061198|PMID:32081428|PMID:32092392|PMID:32117569|PMID:32129518|PMID:32132184|PMID:32133153|PMID:32142651|PMID:32149769|PMID:32201080|PMID:32203189|PMID:32275855|PMID:32286790|PMID:32404436 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:0080600 COVID-19 ISO RGD:1550521 D RGD:9068941 20220825 MouseDO 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:0080600 COVID-19 severity ISO RGD:1347174 D RGD:9068941 20200702 RGD DNA:insertion/deletion:intron 16: PMID:32220422|REF_RGD_ID:32716393 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:0080600 COVID-19 severity ISO RGD:1347174 D RGD:9068941 20220121 RGD PMID:34668775|PMID:34668780|REF_RGD_ID:151347432|REF_RGD_ID:151347433 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:10763 hypertension ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12075344|PMID:15833808|PMID:17473847|PMID:18391097|PMID:19221212|PMID:20559404|PMID:21859683 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:10763 hypertension ISO RGD:1347174 D RGD:9068941 20200609 RGD DNA:SNP:intron:8790A>G, associated with Metabolic Syndrome X (MeSH:D024821) PMID:16459167|REF_RGD_ID:1642828 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:10763 hypertension ISO RGD:728890 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:aorta PMID:20854846|REF_RGD_ID:9685442 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:10763 hypertension ISO RGD:728890 D RGD:9068941 20201127 RGD mRNA, protein:decreased expression:kidney (rat) PMID:12075344|REF_RGD_ID:629626 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:10763 hypertension treatment ISO RGD:1550521 D RGD:9068941 20200609 RGD PMID:16788004|REF_RGD_ID:9685435 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:10763 hypertension treatment ISO RGD:728890 D RGD:9068941 20200609 RGD PMID:17345786|REF_RGD_ID:9685433 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22009550 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1347174 D RGD:9068941 20201117 RGD mRNA, protein:increased expression:myocardium (human) PMID:32448590|REF_RGD_ID:40818260 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:12236 primary biliary cholangitis ISO RGD:728890 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:17532087|REF_RGD_ID:9685452 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:1550521 D RGD:9068941 20200626 RGD PMID:26813885|REF_RGD_ID:32716392 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:1273 respiratory syncytial virus infectious disease treatment ISO RGD:1347174 D RGD:9068941 20200626 RGD human protein in a mouse model PMID:26813885|REF_RGD_ID:32716392 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:12849 autistic disorder ISO RGD:1347174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:12932 endomyocardial fibrosis ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19221212 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16723697 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:13636 Fanconi anemia ISO RGD:1347174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:14069 cerebral malaria susceptibility ISO RGD:1347174 D RGD:9068941 20201120 RGD DNA:SNP:intron 1: C>T PMID:20117248|REF_RGD_ID:40818420 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:1686 glaucoma treatment ISO RGD:728890 D RGD:9068941 20200609 RGD PMID:23702784|REF_RGD_ID:9685447 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:2030 anxiety disorder ISO RGD:1347174 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:26767952 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14647384|PMID:16007097|PMID:16166518|PMID:16339146|PMID:19453650|PMID:19625462|PMID:23678171|PMID:24172901|PMID:24227843|PMID:26801988|PMID:31996437|PMID:32092392|PMID:32201080 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1550521 D RGD:9068941 20200625 RGD mRNA:decreased expression:lung (mouse) PMID:32339157|REF_RGD_ID:30310237 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1550521 D RGD:9068941 20201120 RGD mRNA, protein:decreased expression:heart (mouse) PMID:19453650|REF_RGD_ID:40818405 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1550521 D RGD:9068941 20200618 RGD PMID:16007097|REF_RGD_ID:30309202 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:2945 severe acute respiratory syndrome susceptibility ISO RGD:1347174 D RGD:9068941 20200625 RGD human gene in a mouse model PMID:17974127|REF_RGD_ID:30309965 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1347174 D RGD:9068941 20200702 RGD human gene in a mouse model PMID:32553273|REF_RGD_ID:32716426 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:728890 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:24090950|REF_RGD_ID:9685436 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1347174 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:19212105|REF_RGD_ID:2325210 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1347174 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:27550926|PMID:33007385 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1550521 D RGD:9068941 20200609 RGD PMID:20581171|REF_RGD_ID:4140483 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:4492 avian influenza severity ISO RGD:1550521 D RGD:9068941 20200626 RGD PMID:24800825|REF_RGD_ID:32716391 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:4492 avian influenza treatment ISO RGD:1347174 D RGD:9068941 20200626 RGD human protein in a mouse model PMID:24800825|REF_RGD_ID:32716391 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:5844 myocardial infarction ISO RGD:728890 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium PMID:15671045|REF_RGD_ID:1558664 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:5844 myocardial infarction treatment ISO RGD:728890 D RGD:9068941 20200609 RGD PMID:23959549|REF_RGD_ID:9685449 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:6000 congestive heart failure ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25973029 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:6000 congestive heart failure ISO RGD:1347174 D RGD:9068941 20201203 RGD mRNA, protein:increased expression:heart (human) PMID:32227090|REF_RGD_ID:40818416 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:6000 congestive heart failure ISO RGD:1550521 D RGD:9068941 20220825 MouseDO 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:630 genetic disease ISO RGD:1347174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:6432 pulmonary hypertension ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31931441 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:6432 pulmonary hypertension treatment ISO RGD:1347174 D RGD:9068941 20201118 RGD human protein in a rat model PMID:25225206|REF_RGD_ID:40818280 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25301841 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:850 lung disease ISO RGD:728890 D RGD:9068941 20200609 RGD associated with Poisoning;mRNA:decreased expression:lung PMID:20465954|REF_RGD_ID:4140485 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:874 bacterial pneumonia ISO RGD:1550521 D RGD:9068941 20201117 RGD associated with Pseudomonas Infections;mRNA, protein:altered expression, altered activity:lung (mouse) PMID:31645418|REF_RGD_ID:40818279 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:8947 diabetic retinopathy ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31380462 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:8947 diabetic retinopathy treatment ISO RGD:1347174 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21792177|REF_RGD_ID:8548900 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:8947 diabetic retinopathy treatment ISO RGD:1347174 D RGD:9068941 20201117 RGD human gene in a mouse model PMID:31380462|REF_RGD_ID:40818278 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9000310 Lung Injury ISO RGD:1347174 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16001071|PMID:19864379|PMID:20484496|PMID:33007385 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1347174 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :8790G>A (human) PMID:18753062|REF_RGD_ID:2313798 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:728890 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19793108|REF_RGD_ID:2316776 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:728890 D RGD:9068941 20201117 RGD mRNA, protein:increased expression, increased activity:liver (rat) PMID:16166274|REF_RGD_ID:40818265 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9001650 Pregnancy-Induced Hypertension ISO RGD:728890 D RGD:9068941 20200609 RGD PMID:17977916|REF_RGD_ID:8548898 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9001981 Weight Loss ISO RGD:1347174 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33007385 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12623933|PMID:17600118|PMID:20844835 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1347174 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent;mRNA, protein:decreased expression:kidney PMID:19034303|REF_RGD_ID:2313797 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1347174 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:kidney PMID:19077419|REF_RGD_ID:2313796 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1550521 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18235039|REF_RGD_ID:2313800 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:1347174 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphisms: :multiple (human) PMID:18235039|REF_RGD_ID:2313800 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9002721 Hypertensive Nephrosclerosis severity ISO RGD:1347174 D RGD:9068941 20201120 RGD mRNA, protein:decreased expression, increased expression:nephron tubule, kidney interstitium (human) PMID:21346373|REF_RGD_ID:40818408 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:728890 D RGD:9068941 20200609 RGD associated with Hypertension PMID:21148624|REF_RGD_ID:9685434 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9004531 Cardiovirus Infections ISO RGD:1550521 D RGD:9068941 20201203 RGD encephalomyocarditis virus;mRNA, protein:decreased expression, increased expression:heart (mouse) PMID:19453650|REF_RGD_ID:40818405 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9004610 Acute Lung Injury ISO RGD:1347174 D RGD:9068941 20210115 CTD CTD Direct Evidence: therapeutic PMID:27302421 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9004610 Acute Lung Injury ISO RGD:1550521 D RGD:9068941 20201203 RGD associated with avian influenza;protein:decreased expression:lung (mouse) PMID:25391767|REF_RGD_ID:40818412 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9004610 Acute Lung Injury severity ISO RGD:1550521 D RGD:9068941 20200626 RGD PMID:16001071|REF_RGD_ID:32716389 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1347174 D RGD:9068941 20200626 RGD human protein in a mouse model PMID:16001071|REF_RGD_ID:32716389 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1550521 D RGD:9068941 20201203 RGD associated with Escherichia coli Infections PMID:29990483|REF_RGD_ID:40400897 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:728890 D RGD:9068941 20200609 RGD PMID:18544849|REF_RGD_ID:9685455 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9005372 Inflammation ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19453650 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:728890 D RGD:9068941 20200609 RGD protein:altered expression:kidney PMID:18679036|REF_RGD_ID:2313799 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9005883 Pleural Effusion ISO RGD:1347174 D RGD:9068941 20201203 RGD associated with tuberculosis;protein:decreased activity:pleural fluid (human) PMID:23091417|REF_RGD_ID:40818411 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:728890 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:20528771|REF_RGD_ID:9685432 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9006642 Experimental Autoimmune Uveoretinitis treatment ISO RGD:1347174 D RGD:9068941 20201117 RGD human gene in a mouse model PMID:25228068|REF_RGD_ID:40818264 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:728890 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22595130|REF_RGD_ID:9685456 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9007174 Ventricular Remodeling treatment ISO RGD:1550521 D RGD:9068941 20200609 RGD associated with Diabetic Cardiomyopathies PMID:22340266|REF_RGD_ID:9685428 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9007174 Ventricular Remodeling treatment ISO RGD:1550521 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:20507236|REF_RGD_ID:9685439 12347307 ACE2 angiotensin converting enzyme 2 gene DOID:9007174 Ventricular Remodeling treatment ISO RGD:728890 D RGD:9068941 20200609 RGD associated with Acute Kidney Injury PMID:18223026|REF_RGD_ID:9685440 12347338 AKNA AT-hook transcription factor gene DOID:630 genetic disease ISO RGD:1317844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347365 ROCK2 Rho associated coiled-coil containing protein kinase 2 gene DOID:5419 schizophrenia ISO RGD:731503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12347365 ROCK2 Rho associated coiled-coil containing protein kinase 2 gene DOID:6000 congestive heart failure ISO RGD:731503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12347365 ROCK2 Rho associated coiled-coil containing protein kinase 2 gene DOID:630 genetic disease ISO RGD:731503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347365 ROCK2 Rho associated coiled-coil containing protein kinase 2 gene DOID:9003936 Cardiomegaly ISO RGD:731503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12347365 ROCK2 Rho associated coiled-coil containing protein kinase 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3590 D RGD:9068941 20200609 RGD PMID:17316608|REF_RGD_ID:1642807 12347365 ROCK2 Rho associated coiled-coil containing protein kinase 2 gene DOID:9006205 Animal Disease Models ISO RGD:731503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12347365 ROCK2 Rho associated coiled-coil containing protein kinase 2 gene DOID:9007023 Prenatal Injuries ISO RGD:731503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18956198 12347365 ROCK2 Rho associated coiled-coil containing protein kinase 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:731503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12347365 ROCK2 Rho associated coiled-coil containing protein kinase 2 gene DOID:9008386 Hydrops Fetalis ISO RGD:731503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 12347365 ROCK2 Rho associated coiled-coil containing protein kinase 2 gene DOID:9565 dextrocardia ISO RGD:731503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dextrocardia 12347407 LOC483612 olfactory receptor 4X1 gene DOID:1059 intellectual disability ISO RGD:1350139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12347407 LOC483612 olfactory receptor 4X1 gene DOID:630 genetic disease ISO RGD:1350139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17261581 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:0050848 obstructive sleep apnea ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:17013605|REF_RGD_ID:2298862 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1352761 D RGD:9068941 20220826 RGD protein:increased expression:mouth (human) PMID:34111459|REF_RGD_ID:153344573 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:0060058 lymphoma ISO RGD:1352761 D RGD:9068941 20200609 RGD DNA:point mutation:codon 494:Glu-Asp PMID:9047386|REF_RGD_ID:2298891 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:0060074 ductal carcinoma in situ ISO RGD:1352761 D RGD:9068941 20200609 RGD DNA:amplification PMID:17375183|REF_RGD_ID:2298754 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:0060180 colitis ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23810507 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:0060180 colitis ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:nucleus PMID:18623154|REF_RGD_ID:2298776 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:0060322 mastoiditis ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: PMID:24690988|REF_RGD_ID:8552995 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:0080855 Parkinsonism ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:18534259|REF_RGD_ID:2302392 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:18241655|REF_RGD_ID:2298789 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:0081292 traumatic brain injury ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25668593|PMID:28642177 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:1059 intellectual disability ISO RGD:1352761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:10754 otitis media ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: PMID:24690988|REF_RGD_ID:8552995 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:10763 hypertension ISO RGD:1352761 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:19018797|PMID:27659729|PMID:32147540 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:10763 hypertension ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:16840655|REF_RGD_ID:2298761 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:10964 cholesteatoma of middle ear ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: PMID:24690988|REF_RGD_ID:8552995 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:11054 urinary bladder cancer ISO RGD:1551095 D RGD:9068941 20200609 RGD PMID:18089718|REF_RGD_ID:2293094 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1352761 D RGD:9068941 20200609 RGD PMID:18188593|REF_RGD_ID:2298753 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:11132 prostatic hypertrophy ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:25546515|REF_RGD_ID:11566048 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:11383 cryptorchidism ISO RGD:1551095 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:22777528|REF_RGD_ID:11567213 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:11713 diabetic angiopathy ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:12236 primary biliary cholangitis ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:13141 uveitis ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:uvea PMID:18087711|REF_RGD_ID:2298858 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:13580 cholestasis ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20626112 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:13619 extrahepatic cholestasis ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951|PMID:30026087 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:1591 renovascular hypertension ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:nucleus, kidney PMID:18032469|REF_RGD_ID:2298840 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:1679 cystitis ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22099998 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:1793 pancreatic cancer ISO RGD:1352761 D RGD:9068941 20200609 RGD PMID:9918209|REF_RGD_ID:2298892 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:1824 status epilepticus ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:nucleus, hippocampus PMID:17727632|REF_RGD_ID:2298852 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:1826 epilepsy treatment ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:28303499|REF_RGD_ID:13524859 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:2316 brain ischemia ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18628779 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:2349 arteriosclerosis ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:18637019|REF_RGD_ID:2298774 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:1352761 D RGD:9068941 20200609 RGD PMID:15073126|REF_RGD_ID:13506768 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:1551095 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:15712212|REF_RGD_ID:2298768 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:2746 glycogen storage disease V ISO RGD:1352761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:2876 laryngeal squamous cell carcinoma severity ISO RGD:1352761 D RGD:9068941 20211001 RGD associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human) PMID:19513509|REF_RGD_ID:150429781 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:2945 severe acute respiratory syndrome ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26861016 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:299 adenocarcinoma ISO RGD:1352761 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:3070 high grade glioma ISO RGD:1352761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1551095 D RGD:9068941 20221117 RGD mRNA, protein:increased expression:lung (mouse) PMID:34331613|REF_RGD_ID:155663371 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352761 D RGD:9068941 20200609 RGD PMID:16287968|REF_RGD_ID:2298765 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:4450 renal cell carcinoma ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18089796 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:4450 renal cell carcinoma ISO RGD:1352761 D RGD:9068941 20200609 RGD PMID:17290398|REF_RGD_ID:2298755 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:4450 renal cell carcinoma ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:12663495|REF_RGD_ID:2298771 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:4905 pancreatic carcinoma ISO RGD:1352761 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34686948 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:5199 ureteral obstruction ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:630 genetic disease ISO RGD:1352761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:6432 pulmonary hypertension ISO RGD:727889 D RGD:9068941 20200609 RGD protein:altered localization:nucleus, blood vessel endothelial cell, lung PMID:17934115|REF_RGD_ID:2298843 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:670 amphetamine abuse ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19689456 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:769 neuroblastoma ISO RGD:1352761 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:783 end stage renal disease ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:783 end stage renal disease ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:18077597|REF_RGD_ID:2298859 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:8577 ulcerative colitis ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15955209 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:8634 prostate carcinoma in situ ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:16278667|REF_RGD_ID:2298767 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:8634 prostate carcinoma in situ ISO RGD:1551095 D RGD:9068941 20200609 RGD PMID:15570007|REF_RGD_ID:2298769 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:8778 Crohn's disease ISO RGD:1352761 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:altered localization, increased expression:nucleus, uterine cervix PMID:16850495|REF_RGD_ID:2298759 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9000039 Spinal Cord Injuries ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:17918744|REF_RGD_ID:2298849 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9000081 Lymphatic Metastasis ISO RGD:1352761 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:altered localization:nucleus, prostate gland PMID:17020979|REF_RGD_ID:2298757 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9000099 Experimental Colitis treatment ISO RGD:727889 D RGD:9068941 20220623 RGD PMID:29572553|REF_RGD_ID:152995414 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9000113 Pneumococcal Meningitis ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:brain, nucleus PMID:25443778|REF_RGD_ID:9831197 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9000217 Stomach Neoplasms ISO RGD:1352761 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27157545 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9000918 Disease Progression ISO RGD:1352761 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34626302|PMID:34973135 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9000998 Brain Injuries ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:ileum PMID:18288455|REF_RGD_ID:2298787 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9001161 Chronic Mucocutaneous Ulceration ISO RGD:1352761 D RGD:7240710 20190717 OMIM 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9001161 Chronic Mucocutaneous Ulceration ISO RGD:1352761 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic PMID:25741868|PMID:28492532|PMID:28600438|PMID:29758562|PMID:32969189|PMID:35412596 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26806094 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9001708 Hemorrhagic Shock ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:increased phosphorylation, altered location:nucleus, endothelial cell, lung PMID:17950083|REF_RGD_ID:2298841 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9001708 Hemorrhagic Shock ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:17950078|REF_RGD_ID:2298842 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9001708 Hemorrhagic Shock ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased phosphorylation:nucleus, liver PMID:18469645|REF_RGD_ID:2298781 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9002165 Diabetic Nephropathies ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17900838 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9002170 Experimental Neoplasms ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:altered localization, increased expression:nucleus, prostate gland PMID:16278667|REF_RGD_ID:2298767 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9002676 Cerebral Hemorrhage ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased activity:striatum PMID:17250675|REF_RGD_ID:2302394 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1352761 D RGD:9068941 20200609 RGD PMID:18314621|REF_RGD_ID:2298752 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9002928 Colonic Neoplasms ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20715105 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:altered localization, increased expression:nucleus, uterine cervix PMID:16850495|REF_RGD_ID:2298759 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17098279|REF_RGD_ID:2298756 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1352761 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9003936 Cardiomegaly ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:15728586|REF_RGD_ID:1580656 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9003936 Cardiomegaly treatment ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:15749748|REF_RGD_ID:1581122 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9004009 Reperfusion Injury ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20302854|PMID:23743330 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9004009 Reperfusion Injury ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:nucleus, liver PMID:18621400|REF_RGD_ID:2298777 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9004250 Hepatic Insufficiency ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9004283 Transplant Rejection treatment ISO RGD:727889 D RGD:9068941 20200709 RGD PMID:31828147|REF_RGD_ID:35316072 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9004464 Skin Neoplasms ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23069812 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9004484 Sepsis ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:nucleus, lung PMID:17626913|REF_RGD_ID:2298853 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19896475|PMID:29501572 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:727889 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:ventricle myocardium, heart left ventricle PMID:18543397|REF_RGD_ID:2298779 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9004649 Heat Stroke ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1551095 D RGD:9068941 20200609 RGD protein:decreased expression:peritoneal macrophage PMID:16288051|REF_RGD_ID:2298764 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9005236 Drug Eruptions ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31150805 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9005369 Hepatomegaly ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138235 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:18633731|REF_RGD_ID:2298775 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:nucleus, skeletal muscle, liver PMID:18500427|REF_RGD_ID:2298780 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9007491 Childhood Schizophrenia ISO RGD:1352761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9007502 Brain Neoplasms ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23069812|PMID:29501572 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9007692 Insulin Resistance ISO RGD:1551095 D RGD:9068941 20200609 RGD PMID:18198644|REF_RGD_ID:2298857 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9007692 Insulin Resistance ISO RGD:727889 D RGD:9068941 20200609 RGD protein:altered localization:soleus PMID:18073321|REF_RGD_ID:2298860 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:727889 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:18636044|REF_RGD_ID:2298773 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:727889 D RGD:9068941 20220923 RGD PMID:31583047|REF_RGD_ID:155230831 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1352761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:nucleus, brain PMID:18590723|REF_RGD_ID:2298778 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9008939 Breast Neoplasms ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20154269 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9008939 Breast Neoplasms ISO RGD:1352761 D RGD:9068941 20200609 RGD PMID:16322341|PMID:16728586|REF_RGD_ID:2298762|REF_RGD_ID:2298763 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9206 Barrett's esophagus ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15387324 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23500658 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9452 fatty liver disease ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:21643627|REF_RGD_ID:5135028 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9588 encephalitis ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:16006567|REF_RGD_ID:5147676 12347408 RELA RELA proto-oncogene, NF-kB subunit gene DOID:9970 obesity ISO RGD:1352761 D RGD:9068941 20200609 RGD PMID:18356846|REF_RGD_ID:2298856 12347438 CAMSAP3 calmodulin regulated spectrin associated protein family member 3 gene DOID:0080490 mucolipidosis type IV ISO RGD:1316325 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12347438 CAMSAP3 calmodulin regulated spectrin associated protein family member 3 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1316325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 12347438 CAMSAP3 calmodulin regulated spectrin associated protein family member 3 gene DOID:630 genetic disease ISO RGD:1316325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347459 FBN3 fibrillin 3 gene DOID:0080490 mucolipidosis type IV ISO RGD:1350241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12347459 FBN3 fibrillin 3 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1350241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 12347459 FBN3 fibrillin 3 gene DOID:12849 autistic disorder ISO RGD:1350241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12347459 FBN3 fibrillin 3 gene DOID:630 genetic disease ISO RGD:1350241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12347459 FBN3 fibrillin 3 gene DOID:9006836 Contracture ISO RGD:1350241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures PMID:26752647 12347530 NGEF neuronal guanine nucleotide exchange factor gene DOID:0060476 Perlman syndrome ISO RGD:1319181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12347530 NGEF neuronal guanine nucleotide exchange factor gene DOID:0110991 Joubert syndrome 22 ISO RGD:1319181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12347530 NGEF neuronal guanine nucleotide exchange factor gene DOID:630 genetic disease ISO RGD:1319181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347549 LOC486776 mitochondrial import inner membrane translocase subunit Tim23 gene DOID:11372 megacolon ISO RGD:732380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12347549 LOC486776 mitochondrial import inner membrane translocase subunit Tim23 gene DOID:630 genetic disease ISO RGD:732380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347549 LOC486776 mitochondrial import inner membrane translocase subunit Tim23 gene DOID:767 muscular atrophy ISO RGD:3863 D RGD:9068941 20200609 RGD PMID:20943961|REF_RGD_ID:13463487 12347560 ZNF385B zinc finger protein 385B gene DOID:630 genetic disease ISO RGD:1322504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347585 KIF22 kinesin family member 22 gene DOID:0060019 coronin-1A deficiency ISO RGD:1323577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12347585 KIF22 kinesin family member 22 gene DOID:0060041 autism spectrum disorder ISO RGD:1323577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12347585 KIF22 kinesin family member 22 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1323577 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12347585 KIF22 kinesin family member 22 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1323577 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12347585 KIF22 kinesin family member 22 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1323577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12347585 KIF22 kinesin family member 22 gene DOID:0112199 spondyloepimetaphyseal dysplasia with joint laxity type 2 ISO RGD:1323577 D RGD:7240710 20180130 OMIM 12347585 KIF22 kinesin family member 22 gene DOID:0112199 spondyloepimetaphyseal dysplasia with joint laxity type 2 ISO RGD:1323577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with multiple dislocations PMID:12727876|PMID:19277648|PMID:22152677|PMID:22152678|PMID:25256152|PMID:25741868|PMID:28492532|PMID:32860008 12347585 KIF22 kinesin family member 22 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1323577 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12347585 KIF22 kinesin family member 22 gene DOID:12849 autistic disorder ISO RGD:1323577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12347585 KIF22 kinesin family member 22 gene DOID:1882 atrial heart septal defect ISO RGD:1323577 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12347585 KIF22 kinesin family member 22 gene DOID:5419 schizophrenia ISO RGD:1323577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12347585 KIF22 kinesin family member 22 gene DOID:630 genetic disease ISO RGD:1323577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12727876|PMID:19277648|PMID:22152677|PMID:22152678|PMID:25256152|PMID:25741868|PMID:28166811|PMID:28492532|PMID:32860008 12347585 KIF22 kinesin family member 22 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12347585 KIF22 kinesin family member 22 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1323577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12347585 KIF22 kinesin family member 22 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1323577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12347603 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1321758 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:14709599|PMID:14973778|PMID:14973782|PMID:20679665|PMID:22966035|PMID:24033266|PMID:25741868|PMID:25956699|PMID:26931382|PMID:27172925|PMID:27325525|PMID:28492532|PMID:28554332|PMID:31994750 12347603 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:0080563 congenital disorder of glycosylation Ik ISO RGD:1321758 D RGD:7240710 20180130 OMIM 12347603 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:0080563 congenital disorder of glycosylation Ik ISO RGD:1321758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CDG Ik | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K PMID:14709599|PMID:14973778|PMID:14973782|PMID:16199547|PMID:17576681|PMID:20679665|PMID:22966035|PMID:23757202|PMID:23806237|PMID:24033266|PMID:24157261|PMID:25640679|PMID:25741868|PMID:25954003|PMID:25956699|PMID:26430078|PMID:26453362|PMID:26931382|PMID:27172925|PMID:27325525|PMID:27618451|PMID:27670784|PMID:28490743|PMID:28492532|PMID:28554332|PMID:30653653|PMID:31994750|PMID:32064623|PMID:32190976|PMID:32573669|PMID:33643843|PMID:34567092|PMID:9536098 12347603 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:1059 intellectual disability ISO RGD:1321758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12347603 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1321758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 12347603 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1321758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:14709599|PMID:14973778|PMID:14973782|PMID:16199547|PMID:17576681|PMID:20679665|PMID:22966035|PMID:23806237|PMID:24033266|PMID:24157261|PMID:25741868|PMID:25956699|PMID:26430078|PMID:26453362|PMID:26931382|PMID:27172925|PMID:27325525|PMID:28492532|PMID:28554332|PMID:30653653|PMID:31994750|PMID:32064623|PMID:32190976|PMID:32573669|PMID:34567092|PMID:9536098 12347603 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:630 genetic disease ISO RGD:1321758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14709599|PMID:14973778|PMID:14973782|PMID:20679665|PMID:22966035|PMID:23806237|PMID:24033266|PMID:24157261|PMID:25741868|PMID:25954003|PMID:25956699|PMID:26430078|PMID:26931382|PMID:27172925|PMID:27325525|PMID:27618451|PMID:27670784|PMID:28490743|PMID:28492532|PMID:28554332|PMID:31994750|PMID:32064623|PMID:34567092 12347603 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1321758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:28492532 12347603 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:936 brain disease ISO RGD:1321758 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:14709599|PMID:14973778|PMID:14973782|PMID:17576681|PMID:20679665|PMID:22966035|PMID:24033266|PMID:25741868|PMID:25956699|PMID:26931382|PMID:27172925|PMID:27325525|PMID:28492532|PMID:28554332|PMID:31994750|PMID:32190976|PMID:34567092|PMID:9536098 12347631 TOM1L1 target of myb1 like 1 membrane trafficking protein gene DOID:630 genetic disease ISO RGD:1351961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347631 TOM1L1 target of myb1 like 1 membrane trafficking protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12347663 ARL5C ADP ribosylation factor like GTPase 5C gene DOID:630 genetic disease ISO RGD:1316723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347688 ANGPTL6 angiopoietin like 6 gene DOID:0080600 COVID-19 ISO RGD:1322443 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12347688 ANGPTL6 angiopoietin like 6 gene DOID:630 genetic disease ISO RGD:1322443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347688 ANGPTL6 angiopoietin like 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1322443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12347688 ANGPTL6 angiopoietin like 6 gene DOID:9970 obesity ISO RGD:1322444 D RGD:9068941 20220825 MouseDO OMIM:601665 12347703 FBXO5 F-box protein 5 gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1319734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:28492532 12347703 FBXO5 F-box protein 5 gene DOID:630 genetic disease ISO RGD:1319734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347712 TRIQK triple QxxK/R motif containing gene DOID:630 genetic disease ISO RGD:2299991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347739 GCSAM germinal center associated signaling and motility gene DOID:630 genetic disease ISO RGD:1343482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347754 ZNF235 zinc finger protein 235 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1350686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12347754 ZNF235 zinc finger protein 235 gene DOID:5419 schizophrenia ISO RGD:1350686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12347754 ZNF235 zinc finger protein 235 gene DOID:630 genetic disease ISO RGD:1350686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347767 KCNIP3 potassium voltage-gated channel interacting protein 3 gene DOID:630 genetic disease ISO RGD:735835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347783 MIR216B microRNA mir-216b gene DOID:4989 pancreatitis ISO RGD:2290236 D RGD:9068941 20210730 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12347864 SNIP1 Smad nuclear interacting protein 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12347864 SNIP1 Smad nuclear interacting protein 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1605941 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611 12347864 SNIP1 Smad nuclear interacting protein 1 gene DOID:630 genetic disease ISO RGD:1605941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22279524|PMID:28492532|PMID:34570759 12347864 SNIP1 Smad nuclear interacting protein 1 gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:1605941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Predisposition to dissection PMID:25741868|PMID:28492532 12347864 SNIP1 Smad nuclear interacting protein 1 gene DOID:9006612 Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism ISO RGD:1605941 D RGD:7240710 20180130 OMIM 12347864 SNIP1 Smad nuclear interacting protein 1 gene DOID:9006612 Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism ISO RGD:1605941 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Psychomotor retardation, epilepsy, and craniofacial dysmorphism PMID:22279524|PMID:25741868|PMID:28492532|PMID:29358611|PMID:34570759 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:0050073 invasive aspergillosis ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:21423669|REF_RGD_ID:5508765 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:0050553 JMP syndrome ISO RGD:737312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:0050589 inflammatory bowel disease ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:21939913|REF_RGD_ID:6767556 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:0050697 chorioamnionitis ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:22578261|REF_RGD_ID:6767308 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:0050850 diabetic encephalopathy treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23529380|PMID:24291733|REF_RGD_ID:7244255|REF_RGD_ID:8553040 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:0050851 glomerulosclerosis ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:23046363|REF_RGD_ID:7243247 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:0050851 glomerulosclerosis treatment ISO RGD:737313 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies PMID:20554645|REF_RGD_ID:7244139 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:0050855 renal fibrosis ISO RGD:737312 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (kidney) PMID:22669512|REF_RGD_ID:7245533 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:0050855 renal fibrosis ISO RGD:737313 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22698914|REF_RGD_ID:7243851 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:0050855 renal fibrosis treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:21704028|REF_RGD_ID:7244186 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:0060224 atrial fibrillation ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:21652096|REF_RGD_ID:6767560 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:0080162 lupus nephritis ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, intron:g.-429T>C rs1800625, g.-374T>A rs1800624, g.2184A>G rs3134940 (human) PMID:22513366|REF_RGD_ID:6767309 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:0080199 colorectal carcinoma treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:22467055|REF_RGD_ID:7245559 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:0080322 polycystic kidney disease ISO RGD:737313 D RGD:9068941 20200609 RGD protein:increased expression:kidney (mouse) PMID:20606421|REF_RGD_ID:7244164 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:0080820 occupational asthma ISO RGD:737312 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:33075463 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:0080832 mild cognitive impairment ISO RGD:737312 D RGD:9068941 20230406 RGD PMID:22415896|REF_RGD_ID:7245561 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:10283 prostate cancer ISO RGD:737312 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland (human) PMID:15666359|REF_RGD_ID:7243251 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:10646 schizotypal personality disorder susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.G82S rs2070600 (human) PMID:22146151|REF_RGD_ID:6767315 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:10652 Alzheimer's disease ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:23396166|REF_RGD_ID:7244266 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:10652 Alzheimer's disease ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:brain (human) PMID:8751438|REF_RGD_ID:1300365 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:10652 Alzheimer's disease ISO RGD:737312 D RGD:9068941 20230406 RGD PMID:22415896|REF_RGD_ID:7245561 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:10652 Alzheimer's disease ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:22745485|REF_RGD_ID:6784502 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:10652 Alzheimer's disease ISO RGD:737313 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus, cerebral cortex (mouse) PMID:23164356|REF_RGD_ID:7244287 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:10652 Alzheimer's disease treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:23396166|REF_RGD_ID:7244266 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:10652 Alzheimer's disease treatment ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:21593432|REF_RGD_ID:7245965 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:10763 hypertension ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:19018797|REF_RGD_ID:2325653 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:10763 hypertension ISO RGD:737312 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32147540 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:10941 intracranial aneurysm ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23844137|REF_RGD_ID:8547935 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:11394 adult respiratory distress syndrome ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:16456142|REF_RGD_ID:1625343 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:11476 osteoporosis ISO RGD:69258 D RGD:9068941 20200609 RGD mRNA:increased expression:proximal end of left femur (rat) PMID:22036861|REF_RGD_ID:7245948 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:11476 osteoporosis ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:21542009|REF_RGD_ID:6767561 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:11713 diabetic angiopathy ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20372816 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:11981 morbid obesity treatment ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:22828946|REF_RGD_ID:7243249 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:12217 Lewy body dementia ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16141792 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:1287 cardiovascular system disease ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; protein:increased expression:myocardium, aorta (rat) PMID:20056977|REF_RGD_ID:7244145 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphism:promoter:-374T>A (human) PMID:12606536|REF_RGD_ID:1566451 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies; DNA:deletion, polymorphisms, haplotype:promoter:g.-407_-345del, g.-374T>A, g.-429T>C (human) PMID:20040351|REF_RGD_ID:7244158 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:12918 thromboangiitis obliterans ISO RGD:69258 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:femoral artery (rat) PMID:23069071|REF_RGD_ID:7207785 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:12918 thromboangiitis obliterans treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:23069071|REF_RGD_ID:7207785 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:13207 proliferative diabetic retinopathy ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:16364297|REF_RGD_ID:8695978 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:13378 Kawasaki disease severity ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:22337222|REF_RGD_ID:8695960 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:13564 aspergillosis ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-374T>A (human) PMID:22114731|REF_RGD_ID:8695981 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:1395 schistosomiasis ISO RGD:737313 D RGD:9068941 20200609 RGD protein:decreased expression:lung (mouse) PMID:23369670|REF_RGD_ID:7243187 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:14115 toxic shock syndrome ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:21270403|REF_RGD_ID:6767566 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:1485 cystic fibrosis ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:24127697|REF_RGD_ID:8695959 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:1485 cystic fibrosis ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:24127697|REF_RGD_ID:8695959 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:1485 cystic fibrosis severity ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype:promoter:g.-429T>C rs1800625 (human) PMID:21993476|REF_RGD_ID:6767553 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:1793 pancreatic cancer ISO RGD:737312 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:20398646|REF_RGD_ID:2325643 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:1875 impotence treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23698784|REF_RGD_ID:7244246 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:1891 optic nerve disease ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Alzheimer Disease;protein:increased expression:optic nerve PMID:19277685|REF_RGD_ID:8695971 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:1909 melanoma treatment ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:15009731|REF_RGD_ID:8695970 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:1936 atherosclerosis ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:20835270|REF_RGD_ID:6784516 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:1936 atherosclerosis ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19939336|PMID:20372816 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:1936 atherosclerosis ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; protein:decreased expression:plasma (human) PMID:21906738|REF_RGD_ID:6767557 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:1936 atherosclerosis ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:21418204|PMID:22552116|REF_RGD_ID:6784514|REF_RGD_ID:6784515 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:1936 atherosclerosis treatment ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:22038096|PMID:23936343|REF_RGD_ID:7245947|REF_RGD_ID:8695994 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:224 transient cerebral ischemia ISO RGD:69258 D RGD:9068941 20200609 RGD protein:altered expression:cerebral cortex, striatum (rat) PMID:22528836|REF_RGD_ID:7245542 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:224 transient cerebral ischemia ISO RGD:737313 D RGD:9068941 20200609 RGD protein:increased expression:brain, plasma PMID:23288172|REF_RGD_ID:8696004 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:2316 brain ischemia ISO RGD:69258 D RGD:9068941 20200609 RGD mRNA:increased expression:pyramidal cell, hippocampus PMID:12618340|REF_RGD_ID:1625348 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:2377 multiple sclerosis susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.G82S rs2070600 (human) PMID:21511691|REF_RGD_ID:6767562 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:2508 Takayasu's arteritis ISO RGD:737312 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:20579752|REF_RGD_ID:8695992 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:26 pancreas disease ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036142 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:2773 contact dermatitis ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:23594597|REF_RGD_ID:8695987 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:2841 asthma ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:21920897|REF_RGD_ID:6767554 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:2841 asthma ISO RGD:737312 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:33075463 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:2841 asthma onset ISO RGD:69258 D RGD:9068941 20200609 RGD protein:decreased expression:lung (rat) PMID:23304218|REF_RGD_ID:7244279 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:2841 asthma treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:23304218|REF_RGD_ID:7244279 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:3008 invasive ductal carcinoma ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:22366088|REF_RGD_ID:8695990 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:3021 acute kidney failure ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:21811803|REF_RGD_ID:7243868 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:20133931|REF_RGD_ID:6767312 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:3393 coronary artery disease ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome PMID:22337222|REF_RGD_ID:8695960 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:3393 coronary artery disease susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.G82S (human) PMID:20668462|REF_RGD_ID:6767569 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:3407 carotid artery disease ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, cerebral cortex (rat) PMID:21813211|REF_RGD_ID:7245955 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:3407 carotid artery disease ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:21906738|REF_RGD_ID:6767557 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:3525 middle cerebral artery infarction ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24211797|REF_RGD_ID:8696008 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:3525 middle cerebral artery infarction ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25446913 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:3526 cerebral infarction ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23288172|REF_RGD_ID:8696004 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:3770 pulmonary fibrosis ISO RGD:69258 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:24226635|REF_RGD_ID:8695997 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:3770 pulmonary fibrosis ISO RGD:737312 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (human) PMID:22669512|REF_RGD_ID:7245533 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:737312 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung (human) PMID:15539404|REF_RGD_ID:7245515 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:399 tuberculosis severity ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:22698798|REF_RGD_ID:6767307 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:4001 ovarian carcinoma ISO RGD:737312 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:418 systemic scleroderma ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18825489|REF_RGD_ID:8695973 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:418 systemic scleroderma ISO RGD:737313 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18825489|REF_RGD_ID:8695973 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:4195 hyperglycemia ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036142 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:4467 clear cell renal cell carcinoma ISO RGD:737312 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (human) PMID:21947243|REF_RGD_ID:7244181 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:4676 uremia ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:peritoneal cavity lining PMID:16757496|REF_RGD_ID:1625341 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:5082 liver cirrhosis ISO RGD:737312 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (liver) PMID:22669512|REF_RGD_ID:7245533 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:5199 ureteral obstruction ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:23677242|REF_RGD_ID:7243949 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:520 aortic disease treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22644855|REF_RGD_ID:7245538 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:5419 schizophrenia susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.G82S rs2070600 (human) PMID:22146151|REF_RGD_ID:6767315 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:557 kidney disease ISO RGD:737313 D RGD:9068941 20200609 RGD associated with Obesity PMID:21412218|REF_RGD_ID:7243938 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:576 proteinuria susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1; DNA:polymorphism:promoter:-374T>A (human) PMID:12606536|REF_RGD_ID:1566451 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:5844 myocardial infarction ISO RGD:69258 D RGD:9068941 20200609 RGD mRNA:increased expression:left ventricle myocardium (rat) PMID:19910580|REF_RGD_ID:2325647 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:5844 myocardial infarction susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-429T>C (human) PMID:16728681|REF_RGD_ID:1625333 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:6000 congestive heart failure severity ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:20685687|REF_RGD_ID:7244134 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:630 genetic disease ISO RGD:737312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:6432 pulmonary hypertension ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:lung (human) PMID:21041689|REF_RGD_ID:7244258 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:7148 rheumatoid arthritis ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16385501 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:7148 rheumatoid arthritis ISO RGD:737312 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:20541603|REF_RGD_ID:7244141 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:77 gastrointestinal system disease ISO RGD:69258 D RGD:9068941 20200609 RGD Diabetic Gastrointestinal Disorder, associated with Diabetes Mellitus, Experimental; mRNA:increased expression:jejunum (rat) PMID:23002359|REF_RGD_ID:7244385 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:77 gastrointestinal system disease treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23002359|REF_RGD_ID:7244385 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:783 end stage renal disease ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21822023|REF_RGD_ID:7243867 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:784 chronic kidney disease ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:21432860|REF_RGD_ID:7243958 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:784 chronic kidney disease ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21822023|REF_RGD_ID:7243867 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:784 chronic kidney disease disease_progression ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:g.-374T>A (human) PMID:23593165|REF_RGD_ID:7243185 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:784 chronic kidney disease severity ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, intron:g.-429T>C, g.2184A>G (human) PMID:20185929|REF_RGD_ID:7242570 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:784 chronic kidney disease susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:polymorphism:promoter:g.-429T>C (human) PMID:20353610|REF_RGD_ID:7244142 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:824 periodontitis ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:periodontium (rat) PMID:22924807|REF_RGD_ID:7245487 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:824 periodontitis ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:22795565|REF_RGD_ID:6784499 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:8398 osteoarthritis ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16948116 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:8398 osteoarthritis treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:23894457|REF_RGD_ID:8695985 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:8515 Cor pulmonale ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:21450080|REF_RGD_ID:6767563 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:874 bacterial pneumonia severity ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:21629785|REF_RGD_ID:6767559 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:8881 rosacea ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:21347371|REF_RGD_ID:6767564 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:8893 psoriasis ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNP: :2184A>G (human) PMID:12029499|REF_RGD_ID:8695975 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:8893 psoriasis no_association ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.G82S, 1704G>T, 2245A>G (human) PMID:12029499|REF_RGD_ID:8695975 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:retina inner nuclear layer, retinal ganglion cell (rat) PMID:23587252|REF_RGD_ID:7244248 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :2245G>A (human) PMID:22116960|REF_RGD_ID:8695967 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-374T>A (human) PMID:16969646|REF_RGD_ID:8695958 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-429T>C (human) PMID:11375354|REF_RGD_ID:8695966 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum PMID:23091285|REF_RGD_ID:7244174 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy no_association ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-374T>A, - 429T>C (human) PMID:14704946|REF_RGD_ID:8695965 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy no_association ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphisms: :p.G82S, 1704G>T, 2184A>G (human) PMID:22427038|REF_RGD_ID:8695983 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy no_association ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphisms:promoter, cds, intron:g.-443T>C, p.G82S, g.1704G>T (rs1800625, rs2070600, rs184003) (human) PMID:22475522|REF_RGD_ID:7244176 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy severity ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:SNP:promoter:-374T>A (human) PMID:16969646|REF_RGD_ID:8695958 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutation, snp, haplotype:cds, intron:p.G82S, g.1704G>T (human) PMID:19542745|REF_RGD_ID:7244175 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:23146804|REF_RGD_ID:7244369 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy treatment ISO RGD:737313 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22171162|REF_RGD_ID:8695979 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (rat) PMID:20195207|REF_RGD_ID:2325645 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9000040 Hypertrophy ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19553346 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9000099 Experimental Colitis treatment ISO RGD:69258 D RGD:9068941 20220623 RGD PMID:29572553|REF_RGD_ID:152995414 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9000310 Lung Injury ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Hyperoxia; mRNA, protein:increased expression:lung (rat) PMID:22093994|REF_RGD_ID:7245945 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:69258 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:24291745|REF_RGD_ID:8696000 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9000528 Coronary Disease ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Heart Failure; protein:increased expression:plasma (human) PMID:20685687|REF_RGD_ID:7244134 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9000528 Coronary Disease susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:23396398|REF_RGD_ID:7243186 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9000784 Fibrosis ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:12874465|REF_RGD_ID:1625346 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9000815 Aortic Calcification ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat) PMID:23497312|REF_RGD_ID:7244260 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9000998 Brain Injuries ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:22491548|REF_RGD_ID:7245557 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9000998 Brain Injuries ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:22915134|PMID:24859607|REF_RGD_ID:7245513|REF_RGD_ID:8696001 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25014009 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9001542 Albuminuria ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; protein:increased expression:serum (human) PMID:21607631|REF_RGD_ID:7243944 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9001542 Albuminuria ISO RGD:737313 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies PMID:20627935|REF_RGD_ID:7244135 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9001542 Albuminuria treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21796806|REF_RGD_ID:7244184 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9001686 Acute Coronary Syndrome ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21663912|REF_RGD_ID:5508825 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9002153 Chronic Allograft Dysfunction treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:22217518|PMID:23769041|REF_RGD_ID:7245568|REF_RGD_ID:8695995 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9002159 Liver Reperfusion Injury ISO RGD:69258 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:21431875|REF_RGD_ID:10402078 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney cortex, glomerulus PMID:19142024|REF_RGD_ID:2325651 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism: :1704G>T (human) PMID:14747204|REF_RGD_ID:8695982 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum PMID:23091285|REF_RGD_ID:7244174 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;DNA:polymorphisms, haplotype:cds, intron:p.G82S, g.2184A>G (rs2070600, rs3134940) (human) PMID:21533139|REF_RGD_ID:7244187 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21856399|REF_RGD_ID:7243852 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:737313 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:12651605|REF_RGD_ID:7243248 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9002211 Hyperalgesia ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25014009 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9002211 Hyperalgesia treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:24077211|PMID:25014009|REF_RGD_ID:7364865|REF_RGD_ID:8695980 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:24599045|REF_RGD_ID:8696002 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies PMID:19759273|REF_RGD_ID:7244162 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9002514 Neointima treatment ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:24132651|REF_RGD_ID:8695998 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9003139 Cardiac Fibrosis ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:cardiac atrium (rat) PMID:21802905|REF_RGD_ID:7245957 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24630381|REF_RGD_ID:8696003 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9004464 Skin Neoplasms ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:18208974|REF_RGD_ID:8695988 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9004484 Sepsis treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:19623040|REF_RGD_ID:10402067 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9004610 Acute Lung Injury ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Hyperoxia; protein:decreased expression:bronchoalveolar lavage fluid (rat) PMID:23576805|REF_RGD_ID:7244254 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:decreased expression:plasma (human) PMID:21470837|REF_RGD_ID:7243956 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9005372 Inflammation ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; protein:decreased expression:plasma (human) PMID:21906738|REF_RGD_ID:6767557 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9005372 Inflammation ISO RGD:737312 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:22178603|PMID:33075463 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:lacrimal gland PMID:16283249|REF_RGD_ID:1625335 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737313 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (mouse) PMID:20801062|REF_RGD_ID:7243964 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:22476978|REF_RGD_ID:7245558 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:21458563|REF_RGD_ID:7244188 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9005873 Tongue Neoplasms treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:17374970|REF_RGD_ID:1625338 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9005968 Neuralgia ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25014009 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9006182 Carotid Artery Injuries ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:21680901|REF_RGD_ID:7245963 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9006285 Epidermal Hyperplasia ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:18208974|REF_RGD_ID:8695988 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9006332 Vascular Calcification ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:decreased expression:serum (human) PMID:21643645|REF_RGD_ID:7243940 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9006332 Vascular Calcification ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:21099228|REF_RGD_ID:7243959 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9006332 Vascular Calcification disease_progression ISO RGD:737313 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (mouse) PMID:22305260|REF_RGD_ID:7245562 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:heart (rat) PMID:23251674|REF_RGD_ID:7244283 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:23251674|REF_RGD_ID:7244283 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9007096 Stroke susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-374T>A (human) PMID:16728681|REF_RGD_ID:1625333 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9007096 Stroke treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21683770|REF_RGD_ID:7245961 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9007102 Myocardial Ischemia ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-374T>A (human) PMID:15896660|REF_RGD_ID:8695969 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9007480 Hyperoxia ISO RGD:69258 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:17343756|REF_RGD_ID:1625339 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9007480 Hyperoxia treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:22883037|REF_RGD_ID:7245514 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:heart (rat) PMID:16505177|REF_RGD_ID:1625342 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9008212 Diabetic Foot ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:decreased expression:blood PMID:21941211|REF_RGD_ID:6767555 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9008939 Breast Neoplasms ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:18058469|REF_RGD_ID:8695964 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9008939 Breast Neoplasms ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :rs184003 (human) PMID:24619131|REF_RGD_ID:8695984 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9008939 Breast Neoplasms no_association ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNPs, insertion/deletion:promoter, :-374T>A, -429T/C (human) PMID:22497255|REF_RGD_ID:8695989 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9065 leishmaniasis ISO RGD:737313 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:25014011|REF_RGD_ID:8695986 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, intron:g.-429T>C rs1800625, g.-374T>A rs1800624, g.2184A>G rs3134940 (human) PMID:22513366|REF_RGD_ID:6767309 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9351 diabetes mellitus susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:23396398|REF_RGD_ID:7243186 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:19735169|REF_RGD_ID:7244245 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:jejunum, intestinal villi (rat) PMID:23403079|REF_RGD_ID:7244262 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNP: :2245A>G (human) PMID:11884895|REF_RGD_ID:8695991 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNP: :557G>A (rs2070600, p.G82S) (human) PMID:21067572|REF_RGD_ID:8548676 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNP: :1704G>T, 2184A>G (human) PMID:11884895|REF_RGD_ID:8695991 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-374T>A, -429T/C (human) PMID:22154374|REF_RGD_ID:8695962 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphisms, deletion:promoter, :-374T>A, -429T>C (human) PMID:15896660|REF_RGD_ID:8695969 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:23630304|REF_RGD_ID:7243184 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9540 vascular skin disease no_association ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphisms, insertion, deletion:multiple (human) PMID:11457670|REF_RGD_ID:8695968 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9540 vascular skin disease susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:mutation, SNPs:exon, intron:pG82S, 1704G>T, 2184A>G (human) PMID:11457670|REF_RGD_ID:8695968 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9675 pulmonary emphysema ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30659203 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:16364297|REF_RGD_ID:8695978 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9743 diabetic neuropathy treatment ISO RGD:737313 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22171162|REF_RGD_ID:8695979 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :557G>A (p.G82S) (human) PMID:10553500|REF_RGD_ID:8695961 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-374T>A (human) PMID:16969646|REF_RGD_ID:8695958 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:737312 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:21870072|REF_RGD_ID:7244183 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:18420491|REF_RGD_ID:2325657 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:737313 D RGD:9068941 20200609 RGD protein:increased expression:renal cortex (mouse) PMID:21738623|REF_RGD_ID:7243937 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9970 obesity ISO RGD:737312 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:22761461|REF_RGD_ID:7243250 12347900 AGER advanced glycosylation end-product specific receptor gene DOID:9970 obesity ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:23046363|REF_RGD_ID:7243247 12347900 Ager advanced glycosylation end product-specific receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:737313 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; protein:increased expression:renal cortex (mouse) PMID:12651605|REF_RGD_ID:7243248 12347919 RIMS2 regulating synaptic membrane exocytosis 2 gene DOID:0111590 Cohen syndrome ISO RGD:1351338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12347919 RIMS2 regulating synaptic membrane exocytosis 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1351338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 12347919 RIMS2 regulating synaptic membrane exocytosis 2 gene DOID:630 genetic disease ISO RGD:1351338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12347919 RIMS2 regulating synaptic membrane exocytosis 2 gene DOID:9003893 CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE ISO RGD:1351338 D RGD:7240710 20200910 OMIM 12347919 RIMS2 regulating synaptic membrane exocytosis 2 gene DOID:9003893 CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE ISO RGD:1351338 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone-rod synaptic disorder syndrome, congenital nonprogressive PMID:25741868|PMID:28492532|PMID:32470375 12347993 BBS7 Bardet-Biedl syndrome 7 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1319511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:25741868|PMID:28492532 12347993 BBS7 Bardet-Biedl syndrome 7 gene DOID:0110129 Bardet-Biedl syndrome 7 ISO RGD:1319511 D RGD:7240710 20180130 OMIM 12347993 BBS7 Bardet-Biedl syndrome 7 gene DOID:0110129 Bardet-Biedl syndrome 7 ISO RGD:1319511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 7 PMID:12567324|PMID:16308660|PMID:17576681|PMID:19402160|PMID:20498079|PMID:21209035|PMID:21344540|PMID:21642631|PMID:21937992|PMID:22302990|PMID:22500027|PMID:23462753|PMID:23572516|PMID:23847139|PMID:25553308|PMID:25741868|PMID:26003401|PMID:26325687|PMID:26518167|PMID:27486776|PMID:28492532|PMID:30614526|PMID:30718709|PMID:31196119|PMID:33777945|PMID:9536098 12347993 BBS7 Bardet-Biedl syndrome 7 gene DOID:10584 retinitis pigmentosa ISO RGD:1319511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:30718709 12347993 BBS7 Bardet-Biedl syndrome 7 gene DOID:1059 intellectual disability ISO RGD:1319511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12347993 BBS7 Bardet-Biedl syndrome 7 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12567324|PMID:16199547|PMID:16308660|PMID:17576681|PMID:19402160|PMID:19797195|PMID:20498079|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21642631|PMID:22302990|PMID:22500027|PMID:23572516|PMID:23847139|PMID:25553308|PMID:25741868|PMID:26003401|PMID:26325687|PMID:27486776|PMID:28492532|PMID:29970488|PMID:30029678|PMID:30614526|PMID:30718709|PMID:31196119|PMID:31469663|PMID:33777945|PMID:9536098 12347993 BBS7 Bardet-Biedl syndrome 7 gene DOID:630 genetic disease ISO RGD:1319511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30718709 12347993 BBS7 Bardet-Biedl syndrome 7 gene DOID:8501 fundus dystrophy ISO RGD:1319511 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:23462753|PMID:25741868 12347993 BBS7 Bardet-Biedl syndrome 7 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1319511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 12347993 BBS7 Bardet-Biedl syndrome 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12347993 BBS7 Bardet-Biedl syndrome 7 gene DOID:9007665 Bardet-Biedl Syndrome 1/7, Digenic ISO RGD:1319511 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1/7, digenic PMID:12567324|PMID:20498079|PMID:21642631|PMID:22500027|PMID:23572516|PMID:25741868|PMID:28492532 12348016 NAPSA napsin A aspartic peptidase gene DOID:2661 myoepithelioma ISO RGD:1347374 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12348016 NAPSA napsin A aspartic peptidase gene DOID:630 genetic disease ISO RGD:1347374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348029 EXTL2 exostosin like glycosyltransferase 2 gene DOID:1826 epilepsy ISO RGD:1317015 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12348029 EXTL2 exostosin like glycosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1317015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348029 EXTL2 exostosin like glycosyltransferase 2 gene DOID:9269 maple syrup urine disease ISO RGD:1317015 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 12348047 DICER1 dicer 1, ribonuclease III gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:1319699 D RGD:9068941 20210716 RGD PMID:25195038|REF_RGD_ID:149735347 12348047 DICER1 dicer 1, ribonuclease III gene DOID:0050902 medulloblastoma ISO RGD:1319699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:25741868 12348047 DICER1 dicer 1, ribonuclease III gene DOID:0080615 nephroma ISO RGD:1319699 D RGD:9068941 20210716 RGD DNA:mutations: : PMID:24481001|REF_RGD_ID:149735348 12348047 DICER1 dicer 1, ribonuclease III gene DOID:0081063 DICER1 syndrome ISO RGD:1319699 D RGD:7240710 20220406 OMIM 12348047 DICER1 dicer 1, ribonuclease III gene DOID:0081063 DICER1 syndrome ISO RGD:1319699 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:15242644|PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:17920623|PMID:17923214|PMID:18453628|PMID:18570301|PMID:19556464|PMID:21036787|PMID:21205968|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22157934|PMID:22180160|PMID:22187960|PMID:22546613|PMID:22717647|PMID:23068969|PMID:23132766|PMID:23418872|PMID:23547758|PMID:23620094|PMID:23622242|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24151152|PMID:24481001|PMID:24513630|PMID:24617712|PMID:24628552|PMID:24675358|PMID:24676357|PMID:24708902|PMID:24728327|PMID:24823459|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25176334|PMID:25190313|PMID:25231023|PMID:25348012|PMID:25356068|PMID:25451712|PMID:25526195|PMID:25670082|PMID:25670083|PMID:25741868|PMID:25803323|PMID:25836323|PMID:25998712|PMID:26033159|PMID:26033501|PMID:26241669|PMID:26289771|PMID:26408257|PMID:26428316|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26556299|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26592504|PMID:26666178|PMID:26822237|PMID:26841698|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27036314|PMID:27050224|PMID:27126690|PMID:27459524|PMID:27494611|PMID:27664536|PMID:27697588|PMID:27784193|PMID:27819237|PMID:27896549|PMID:27930734|PMID:28007021|PMID:28012864|PMID:28097783|PMID:28177962|PMID:28202063|PMID:28222777|PMID:28323992|PMID:28459098|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28688118|PMID:28748527|PMID:28766837|PMID:28825729|PMID:28834809|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29315962|PMID:29351919|PMID:29395683|PMID:29399970|PMID:29459759|PMID:29469200|PMID:29474644|PMID:29538609|PMID:29625052|PMID:29633305|PMID:29641532|PMID:29660837|PMID:29698806|PMID:29706542|PMID:29708584|PMID:29726952|PMID:29753010|PMID:29762508|PMID:29881993|PMID:29883781|PMID:29938629|PMID:29943907|PMID:29945567|PMID:30014022|PMID:30072170|PMID:30093976|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30446821|PMID:30585947|PMID:30597651|PMID:30649606|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31067372|PMID:31278746|PMID:31285663|PMID:31300551|PMID:31342592|PMID:31820118|PMID:31838154|PMID:31883967|PMID:31900434|PMID:31911633|PMID:32291395|PMID:32714280|PMID:32832834|PMID:32973888|PMID:33158809|PMID:33372952|PMID:33630087|PMID:33718253|PMID:33729574|PMID:34291157|PMID:34313605|PMID:9295070|PMID:9345104|PMID:9536098 12348047 DICER1 dicer 1, ribonuclease III gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1319699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459|PMID:28492532 12348047 DICER1 dicer 1, ribonuclease III gene DOID:10534 stomach cancer disease_progression ISO RGD:1319699 D RGD:9068941 20210716 RGD PMID:18167183|REF_RGD_ID:149735323 12348047 DICER1 dicer 1, ribonuclease III gene DOID:11198 DiGeorge syndrome ISO RGD:1319700 D RGD:9068941 20220825 MouseDO OMIM:188400 12348047 DICER1 dicer 1, ribonuclease III gene DOID:12930 dilated cardiomyopathy ISO RGD:1319700 D RGD:9068941 20220825 MouseDO 12348047 DICER1 dicer 1, ribonuclease III gene DOID:1324 lung cancer exacerbates ISO RGD:1319700 D RGD:9068941 20210716 RGD PMID:19903759|REF_RGD_ID:149735199 12348047 DICER1 dicer 1, ribonuclease III gene DOID:14228 oligospermia ISO RGD:1319699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22381205 12348047 DICER1 dicer 1, ribonuclease III gene DOID:1612 breast cancer ISO RGD:1319699 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532|PMID:32714280 12348047 DICER1 dicer 1, ribonuclease III gene DOID:1664 pineoblastoma ISO RGD:1319699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pineoblastoma PMID:16199547|PMID:19556464|PMID:21266384|PMID:21882293|PMID:24909177|PMID:25022261|PMID:25118636|PMID:25741868|PMID:26925222|PMID:27459524|PMID:28492532|PMID:28960912|PMID:30097050 12348047 DICER1 dicer 1, ribonuclease III gene DOID:2154 nephroblastoma ISO RGD:1319699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 12348047 DICER1 dicer 1, ribonuclease III gene DOID:2394 ovarian cancer ISO RGD:1319699 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 12348047 DICER1 dicer 1, ribonuclease III gene DOID:289 endometriosis ISO RGD:1319699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12348047 DICER1 dicer 1, ribonuclease III gene DOID:3247 rhabdomyosarcoma ISO RGD:1319699 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:19556464|PMID:21266384|PMID:24839956|PMID:25741868|PMID:26925222|PMID:28492532|PMID:28624956|PMID:28862265|PMID:30266945|PMID:33372952 12348047 DICER1 dicer 1, ribonuclease III gene DOID:3525 middle cerebral artery infarction ISO RGD:1309381 D RGD:9068941 20210723 RGD mRNA:decreased expression:brain: PMID:26294080|REF_RGD_ID:11553310 12348047 DICER1 dicer 1, ribonuclease III gene DOID:4769 pleuropulmonary blastoma ISO RGD:1319699 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | ClinVar Annotator: match by term: Pleuropulmonary blastoma PMID:19556464|PMID:21036787|PMID:21266384|PMID:21501861|PMID:23728841|PMID:24481001|PMID:24676357|PMID:24839956|PMID:24909177|PMID:25451712|PMID:25741868|PMID:26467025|PMID:26925222|PMID:28323992|PMID:28492532|PMID:28654427|PMID:28825729|PMID:28862265|PMID:30178239|PMID:30266945|PMID:30339877|PMID:32714280|PMID:33372952 12348047 DICER1 dicer 1, ribonuclease III gene DOID:4791 supratentorial primitive neuroectodermal tumor ISO RGD:1319699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Supratentorial primitive neuroectodermal tumor PMID:21882293|PMID:24481001|PMID:24513630|PMID:24617712|PMID:24675358|PMID:24909177|PMID:25190313|PMID:25356068|PMID:25741868|PMID:25836323|PMID:26033159|PMID:26475046|PMID:26555935|PMID:26556299|PMID:26841698|PMID:26925222|PMID:26928971|PMID:27126690|PMID:27459524|PMID:28177962|PMID:28222777|PMID:28492532|PMID:28862265|PMID:29315962|PMID:29881993|PMID:30014022|PMID:30266945|PMID:30649606 12348047 DICER1 dicer 1, ribonuclease III gene DOID:5223 infertility ISO RGD:1319700 D RGD:9068941 20210820 RGD PMID:25525274|REF_RGD_ID:150340620 12348047 DICER1 dicer 1, ribonuclease III gene DOID:630 genetic disease ISO RGD:1319699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348047 DICER1 dicer 1, ribonuclease III gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1319699 D RGD:9068941 20210716 RGD associated with hepatitis B; DNA:SNP: :rs1057035 T>C (human) PMID:23868705|REF_RGD_ID:149735346 12348047 DICER1 dicer 1, ribonuclease III gene DOID:768 retinoblastoma exacerbates ISO RGD:1319700 D RGD:9068941 20210716 RGD DNA:deletion:haploinsufficiency PMID:20019750|REF_RGD_ID:149735324 12348047 DICER1 dicer 1, ribonuclease III gene DOID:9004454 Multinodular Goiter 1 ISO RGD:1319699 D RGD:7240710 20220216 OMIM 12348047 DICER1 dicer 1, ribonuclease III gene DOID:9004454 Multinodular Goiter 1 ISO RGD:1319699 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Euthyroid goiter PMID:18570301|PMID:19556464|PMID:21036787|PMID:21205968|PMID:21266384|PMID:21882293|PMID:22187960|PMID:23620094|PMID:24708902|PMID:24728327|PMID:24909177|PMID:25741868|PMID:26033159|PMID:26467025|PMID:26475046|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26577641|PMID:26925222|PMID:27459524|PMID:28323992|PMID:28492532|PMID:28524158|PMID:29399970|PMID:29474644|PMID:29641532|PMID:29708584|PMID:29881993|PMID:30178239|PMID:30989777|PMID:31342592|PMID:31820118|PMID:32291395|PMID:32714280|PMID:34291157|PMID:34313605|PMID:6261577|PMID:9295070|PMID:9345104 12348047 DICER1 dicer 1, ribonuclease III gene DOID:9005606 Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor ISO RGD:1319699 D RGD:7240710 20190315 OMIM 12348047 DICER1 dicer 1, ribonuclease III gene DOID:9005606 Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor ISO RGD:1319699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GLOW SYNDROME PMID:19556464|PMID:21266384|PMID:24676357|PMID:24839956|PMID:25741868|PMID:28492532|PMID:28825729|PMID:28862265|PMID:30266945 12348047 DICER1 dicer 1, ribonuclease III gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:18453628|PMID:19556464|PMID:21036787|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22180160|PMID:22187960|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24481001|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25348012|PMID:25451712|PMID:25670082|PMID:25741868|PMID:26241669|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26628006|PMID:26666178|PMID:26822237|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:27050224|PMID:27459524|PMID:27819237|PMID:27896549|PMID:27930734|PMID:28012864|PMID:28097783|PMID:28166811|PMID:28202063|PMID:28323992|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28748527|PMID:28825729|PMID:28862265|PMID:29037807|PMID:29187512|PMID:29351919|PMID:29399970|PMID:29474644|PMID:29641532|PMID:29708584|PMID:29762508|PMID:29881993|PMID:29883781|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31342592|PMID:33718253|PMID:9536098 12348047 DICER1 dicer 1, ribonuclease III gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319699 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:18453628|PMID:19556464|PMID:21036787|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22180160|PMID:22187960|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24481001|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25348012|PMID:25451712|PMID:25670082|PMID:25741868|PMID:26241669|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26628006|PMID:26666178|PMID:26822237|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:27050224|PMID:27459524|PMID:27819237|PMID:27896549|PMID:27930734|PMID:28012864|PMID:28097783|PMID:28202063|PMID:28323992|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28748527|PMID:28825729|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29351919|PMID:29399970|PMID:29474644|PMID:29641532|PMID:29708584|PMID:29762508|PMID:29881993|PMID:29883781|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31342592|PMID:31820118|PMID:32714280|PMID:33372952|PMID:33630087|PMID:33718253|PMID:33729574|PMID:34313605|PMID:9536098 12348047 DICER1 dicer 1, ribonuclease III gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15242644|PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:17920623|PMID:17923214|PMID:18453628|PMID:19556464|PMID:21036787|PMID:21205968|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22157934|PMID:22180160|PMID:22187960|PMID:22546613|PMID:23132766|PMID:23418872|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24481001|PMID:24617712|PMID:24675358|PMID:24676357|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25176334|PMID:25348012|PMID:25356068|PMID:25451712|PMID:25670082|PMID:25741868|PMID:25803323|PMID:25998712|PMID:26033159|PMID:26033501|PMID:26241669|PMID:26289771|PMID:26408257|PMID:26428316|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26592504|PMID:26666178|PMID:26822237|PMID:26841698|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27036314|PMID:27050224|PMID:27126690|PMID:27459524|PMID:27494611|PMID:27664536|PMID:27697588|PMID:27784193|PMID:27819237|PMID:27830405|PMID:27896549|PMID:27930734|PMID:28007021|PMID:28012864|PMID:28097783|PMID:28177962|PMID:28202063|PMID:28222777|PMID:28323992|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28688118|PMID:28748527|PMID:28766837|PMID:28825729|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29315962|PMID:29351919|PMID:29395683|PMID:29399970|PMID:29459759|PMID:29474644|PMID:29538609|PMID:29641532|PMID:29660837|PMID:29708584|PMID:29753010|PMID:29762508|PMID:29881993|PMID:29883781|PMID:29943907|PMID:29945567|PMID:30093976|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30446821|PMID:30585947|PMID:30597651|PMID:30649606|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31067372|PMID:31285663|PMID:31300551|PMID:31342592|PMID:31820118|PMID:31838154|PMID:31883967|PMID:31900434|PMID:31911633|PMID:32291395|PMID:32714280|PMID:32832834|PMID:32973888|PMID:33372952|PMID:33630087|PMID:33718253|PMID:33729574|PMID:34291157|PMID:34313605|PMID:9345104|PMID:9536098 12348047 DICER1 dicer 1, ribonuclease III gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319699 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15242644|PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:17920623|PMID:17923214|PMID:18453628|PMID:19556464|PMID:21036787|PMID:21205968|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22157934|PMID:22180160|PMID:22187960|PMID:22546613|PMID:23132766|PMID:23418872|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24481001|PMID:24617712|PMID:24675358|PMID:24676357|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25176334|PMID:25348012|PMID:25356068|PMID:25451712|PMID:25670082|PMID:25741868|PMID:25803323|PMID:25998712|PMID:26033159|PMID:26033501|PMID:26241669|PMID:26289771|PMID:26408257|PMID:26428316|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26592504|PMID:26666178|PMID:26822237|PMID:26841698|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27036314|PMID:27050224|PMID:27126690|PMID:27459524|PMID:27494611|PMID:27664536|PMID:27697588|PMID:27784193|PMID:27819237|PMID:27830405|PMID:27896549|PMID:27930734|PMID:28007021|PMID:28012864|PMID:28097783|PMID:28177962|PMID:28202063|PMID:28222777|PMID:28323992|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28688118|PMID:28748527|PMID:28766837|PMID:28825729|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29315962|PMID:29351919|PMID:29395683|PMID:29399970|PMID:29459759|PMID:29474644|PMID:29538609|PMID:29641532|PMID:29660837|PMID:29708584|PMID:29753010|PMID:29762508|PMID:29881993|PMID:29883781|PMID:29943907|PMID:29945567|PMID:30093976|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30446821|PMID:30585947|PMID:30597651|PMID:30649606|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31067372|PMID:31285663|PMID:31300551|PMID:31342592|PMID:31820118|PMID:31838154|PMID:31883967|PMID:31900434|PMID:31911633|PMID:32291395|PMID:32714280|PMID:32832834|PMID:32973888|PMID:33158809|PMID:33372952|PMID:33630087|PMID:33718253|PMID:33729574|PMID:34291157|PMID:34313605|PMID:9345104|PMID:9536098 12348047 DICER1 dicer 1, ribonuclease III gene DOID:9007188 Liver Neoplasms ISO RGD:1319699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478143 12348047 DICER1 dicer 1, ribonuclease III gene DOID:9008053 Embryonal Rhabdomyosarcoma 2 ISO RGD:1319699 D RGD:7240710 20180130 OMIM 12348047 DICER1 dicer 1, ribonuclease III gene DOID:9008053 Embryonal Rhabdomyosarcoma 2 ISO RGD:1319699 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma, embryonal, 2 PMID:19556464|PMID:21266384|PMID:24909177|PMID:25022261|PMID:25118636|PMID:25741868|PMID:26925222|PMID:27459524|PMID:28492532|PMID:28873162|PMID:30097050|PMID:30446821 12348047 DICER1 dicer 1, ribonuclease III gene DOID:9008939 Breast Neoplasms ISO RGD:1319699 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:21266384|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29474644|PMID:32714280 12348047 DICER1 dicer 1, ribonuclease III gene DOID:9256 colorectal cancer disease_progression ISO RGD:1319699 D RGD:9068941 20210716 RGD PMID:24649159|REF_RGD_ID:149735326 12348047 DICER1 dicer 1, ribonuclease III gene DOID:9256 colorectal cancer susceptibility ISO RGD:1319699 D RGD:9068941 20210716 RGD DNA:SNP: :rs3742330 A>G (human) PMID:30833603|REF_RGD_ID:149735345 12348047 DICER1 dicer 1, ribonuclease III gene DOID:9351 diabetes mellitus ISO RGD:1319700 D RGD:9068941 20210723 RGD PMID:22216196|REF_RGD_ID:149735536 12348082 TCEAL1 transcription elongation factor A like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12348082 TCEAL1 transcription elongation factor A like 1 gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:1352968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 PMID:10417279|PMID:16380909|PMID:18160035|PMID:19328639|PMID:28492532|PMID:9634530 12348082 TCEAL1 transcription elongation factor A like 1 gene DOID:12849 autistic disorder ISO RGD:1352968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12348082 TCEAL1 transcription elongation factor A like 1 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1352968 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:31690835|PMID:9633722|PMID:9634530 12348082 TCEAL1 transcription elongation factor A like 1 gene DOID:630 genetic disease ISO RGD:1352968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348082 TCEAL1 transcription elongation factor A like 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1352968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12348082 TCEAL1 transcription elongation factor A like 1 gene DOID:9008698 NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED ISO RGD:1352968 D RGD:7240710 20230505 OMIM 12348082 TCEAL1 transcription elongation factor A like 1 gene DOID:9008698 NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED ISO RGD:1352968 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked PMID:25741868|PMID:36368327 12348107 MICALL1 MICAL like 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1602200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12348107 MICALL1 MICAL like 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1602200 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12348107 MICALL1 MICAL like 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1602200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12348107 MICALL1 MICAL like 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1602200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12348107 MICALL1 MICAL like 1 gene DOID:630 genetic disease ISO RGD:1602200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348124 MUSK muscle associated receptor tyrosine kinase gene DOID:0110670 congenital myasthenic syndrome 9 ISO RGD:731781 D RGD:7240710 20180130 OMIM 12348124 MUSK muscle associated receptor tyrosine kinase gene DOID:0110670 congenital myasthenic syndrome 9 ISO RGD:731781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 9 PMID:15184594|PMID:15496425|PMID:18414213|PMID:19949040|PMID:20371544|PMID:23326516|PMID:24122059|PMID:25262156|PMID:25741868|PMID:25900532|PMID:26467025|PMID:28492532|PMID:29663639|PMID:30429133|PMID:30719842|PMID:32253145 12348124 MUSK muscle associated receptor tyrosine kinase gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:731781 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C PMID:25741868|PMID:28492532 12348124 MUSK muscle associated receptor tyrosine kinase gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:731781 D RGD:7240710 20180130 OMIM 12348124 MUSK muscle associated receptor tyrosine kinase gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:731781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:15184594|PMID:15496425|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20371544|PMID:23326516|PMID:24122059|PMID:24183479|PMID:25262156|PMID:25537362|PMID:25612909|PMID:25640679|PMID:25695962|PMID:25741868|PMID:25900532|PMID:26467025|PMID:28492532|PMID:28518170|PMID:29663639|PMID:30429133|PMID:30719842|PMID:31750350|PMID:31974414|PMID:32253145|PMID:32732226|PMID:8653786|PMID:9536098 12348124 MUSK muscle associated receptor tyrosine kinase gene DOID:11162 respiratory failure ISO RGD:731781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Respiratory insufficiency PMID:25537362|PMID:25741868|PMID:28492532|PMID:31974414 12348124 MUSK muscle associated receptor tyrosine kinase gene DOID:3635 congenital myasthenic syndrome ISO RGD:731781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive PMID:28492532 12348124 MUSK muscle associated receptor tyrosine kinase gene DOID:437 myasthenia gravis ISO RGD:731781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22981737|PMID:27119269 12348124 MUSK muscle associated receptor tyrosine kinase gene DOID:437 myasthenia gravis severity ISO RGD:731781 D RGD:9068941 20200911 RGD protein:increased expression:serum (human) PMID:26025053|REF_RGD_ID:38599165 12348124 MUSK muscle associated receptor tyrosine kinase gene DOID:437 myasthenia gravis treatment ISO RGD:731781 D RGD:9068941 20200911 RGD PMID:22218276|REF_RGD_ID:38599166 12348124 MUSK muscle associated receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:731781 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12348124 MUSK muscle associated receptor tyrosine kinase gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:3211 D RGD:9068941 20200609 RGD PMID:17081697|REF_RGD_ID:2317084 12348124 MUSK muscle associated receptor tyrosine kinase gene DOID:9008585 Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency ISO RGD:731781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12348143 ZFAT zinc finger and AT-hook domain containing gene DOID:630 genetic disease ISO RGD:1322045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348143 ZFAT zinc finger and AT-hook domain containing gene DOID:7188 autoimmune thyroiditis ISO RGD:1322045 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 PMID:11440990|PMID:15294872|PMID:25741868|PMID:28940097 12348143 ZFAT zinc finger and AT-hook domain containing gene DOID:7188 autoimmune thyroiditis susceptibility ISO RGD:1322045 D RGD:7240710 20190502 OMIM 12348194 STEAP2 STEAP2 metalloreductase gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:1316016 D RGD:9068941 20200609 RGD protein:increased expression:spinal chord PMID:19656261|REF_RGD_ID:13524567 12348194 STEAP2 STEAP2 metalloreductase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12348194 STEAP2 STEAP2 metalloreductase gene DOID:630 genetic disease ISO RGD:1316015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348206 MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1317839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12348206 MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:1059 intellectual disability ISO RGD:1317839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12348206 MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1317839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12348206 MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:2746 glycogen storage disease V ISO RGD:1317839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12348206 MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:3070 high grade glioma ISO RGD:1317839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12348206 MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:630 genetic disease ISO RGD:1317839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348245 EMC10 ER membrane protein complex subunit 10 gene DOID:1059 intellectual disability ISO RGD:1602050 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:33531666|PMID:35684946 12348245 EMC10 ER membrane protein complex subunit 10 gene DOID:630 genetic disease ISO RGD:1602050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348245 EMC10 ER membrane protein complex subunit 10 gene DOID:9007229 Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures ISO RGD:1602050 D RGD:7240710 20210414 OMIM 12348245 EMC10 ER membrane protein complex subunit 10 gene DOID:9007229 Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures ISO RGD:1602050 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and variable seizures PMID:25741868|PMID:32869858|PMID:33531666|PMID:35684946 12348260 SYNC syncoilin, intermediate filament protein gene DOID:630 genetic disease ISO RGD:1346585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348274 ARL13B ADP ribosylation factor like GTPase 13B gene DOID:0050777 Joubert syndrome ISO RGD:1349356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:18674751|PMID:23153492|PMID:24033266|PMID:25741868|PMID:27153923|PMID:28492532|PMID:31846650 12348274 ARL13B ADP ribosylation factor like GTPase 13B gene DOID:0080074 neural tube defect ISO RGD:1557633 D RGD:9068941 20200609 RGD DNA:transversion:intron:IVS2+2T>G (mouse) PMID:17488627|REF_RGD_ID:11553935 12348274 ARL13B ADP ribosylation factor like GTPase 13B gene DOID:0110980 Joubert syndrome 1 ISO RGD:1349356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1 PMID:25741868|PMID:28492532 12348274 ARL13B ADP ribosylation factor like GTPase 13B gene DOID:0111003 Joubert syndrome 8 ISO RGD:1349356 D RGD:7240710 20180130 OMIM 12348274 ARL13B ADP ribosylation factor like GTPase 13B gene DOID:0111003 Joubert syndrome 8 ISO RGD:1349356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 8 PMID:16199547|PMID:17576681|PMID:18674751|PMID:24033266|PMID:25138100|PMID:25741868|PMID:26092869|PMID:26132555|PMID:28492532|PMID:28787594|PMID:29255182|PMID:9536098 12348274 ARL13B ADP ribosylation factor like GTPase 13B gene DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency ISO RGD:1349356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive PMID:16363235|PMID:22627709|PMID:28492532|PMID:9241758 12348274 ARL13B ADP ribosylation factor like GTPase 13B gene DOID:2451 protein S deficiency ISO RGD:1349356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Protein S deficiency disease PMID:32581362 12348274 ARL13B ADP ribosylation factor like GTPase 13B gene DOID:2843 long QT syndrome ISO RGD:1349356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555|PMID:28492532 12348274 ARL13B ADP ribosylation factor like GTPase 13B gene DOID:2975 cystic kidney disease ISO RGD:1557633 D RGD:9068941 20200609 RGD PMID:27153923|REF_RGD_ID:11553938 12348274 ARL13B ADP ribosylation factor like GTPase 13B gene DOID:630 genetic disease ISO RGD:1349356 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25138100|PMID:25741868|PMID:28492532|PMID:28787594 12348274 ARL13B ADP ribosylation factor like GTPase 13B gene DOID:9970 obesity ISO RGD:1557633 D RGD:9068941 20200609 RGD protein:decreased expression:hypothalamus, cilium (mouse) PMID:22581473|REF_RGD_ID:11553936 12348303 MSRB2 methionine sulfoxide reductase B2 gene DOID:630 genetic disease ISO RGD:1345900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348313 ADAMDEC1 ADAM like decysin 1 gene DOID:630 genetic disease ISO RGD:1320430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348335 LOC611847 DNA polymerase delta 4, accessory subunit gene DOID:1059 intellectual disability ISO RGD:1318336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12348335 LOC611847 DNA polymerase delta 4, accessory subunit gene DOID:630 genetic disease ISO RGD:1318336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348335 LOC611847 DNA polymerase delta 4, accessory subunit gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1318336 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12348335 LOC611847 DNA polymerase delta 4, accessory subunit gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1318336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12348349 CPEB1 cytoplasmic polyadenylation element binding protein 1 gene DOID:10762 portal hypertension ISO RGD:1310421 D RGD:9068941 20200609 RGD protein:increased expression:mesentary PMID:26627607|REF_RGD_ID:11528851 12348349 CPEB1 cytoplasmic polyadenylation element binding protein 1 gene DOID:10762 portal hypertension treatment ISO RGD:1321315 D RGD:9068941 20200609 RGD PMID:26627607|REF_RGD_ID:11528851 12348349 CPEB1 cytoplasmic polyadenylation element binding protein 1 gene DOID:12236 primary biliary cholangitis ISO RGD:1310421 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:26627607|REF_RGD_ID:11528851 12348349 CPEB1 cytoplasmic polyadenylation element binding protein 1 gene DOID:13938 amenorrhea ISO RGD:1321314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12348349 CPEB1 cytoplasmic polyadenylation element binding protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1321314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12348349 CPEB1 cytoplasmic polyadenylation element binding protein 1 gene DOID:3068 glioblastoma disease_progression ISO RGD:1310421 D RGD:9068941 20200609 RGD PMID:23360795|REF_RGD_ID:9685152 12348349 CPEB1 cytoplasmic polyadenylation element binding protein 1 gene DOID:5082 liver cirrhosis ISO RGD:1321314 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic; protein:increased expression:liver PMID:26627607|REF_RGD_ID:11528851 12348349 CPEB1 cytoplasmic polyadenylation element binding protein 1 gene DOID:630 genetic disease ISO RGD:1321314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348349 CPEB1 cytoplasmic polyadenylation element binding protein 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1321314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062064 12348349 CPEB1 cytoplasmic polyadenylation element binding protein 1 gene DOID:9256 colorectal cancer ISO RGD:1321314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12348404 LOC100856762 melanoma-associated antigen B16-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12348404 LOC100856762 melanoma-associated antigen B16-like gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1353190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 12348404 LOC100856762 melanoma-associated antigen B16-like gene DOID:12849 autistic disorder ISO RGD:1353190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12348404 LOC100856762 melanoma-associated antigen B16-like gene DOID:630 genetic disease ISO RGD:1353190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348404 LOC100856762 melanoma-associated antigen B16-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12348404 LOC100856762 melanoma-associated antigen B16-like gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1353190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:0050127 sinusitis ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18391768 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:0050563 nonsyndromic deafness ISO RGD:70824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive PMID:25941349 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:tongue: PMID:20848408|REF_RGD_ID:8548612 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:0050866 oral squamous cell carcinoma ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression, altered expression:mouth mucosa: PMID:20662906|REF_RGD_ID:8548617 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:0060041 autism spectrum disorder ISO RGD:10894 D RGD:9068941 20220825 MouseDO 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:0060041 autism spectrum disorder ISO RGD:70824 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:0070322 childhood hepatocellular carcinoma ISO RGD:70824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pediatric hepatocellular carcinoma PMID:17483355|PMID:9927037 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:0080208 non-alcoholic fatty liver disease disease_progression ISO RGD:10894 D RGD:9068941 20200609 RGD PMID:24845607|REF_RGD_ID:14694829 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:70824 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorders of glycosylation type II PMID:26833332|PMID:28492532 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:0110539 autosomal recessive nonsyndromic deafness 97 ISO RGD:70824 D RGD:7240710 20180130 OMIM 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:0110539 autosomal recessive nonsyndromic deafness 97 ISO RGD:70824 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 97 PMID:21774103|PMID:21970370|PMID:22703879|PMID:24728327|PMID:25741868|PMID:25941349|PMID:26467025|PMID:27696107|PMID:28259294|PMID:28492532|PMID:29641532 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:0110909 inflammatory bowel disease 25 ISO RGD:70824 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 25, early onset, autosomal recessive PMID:25741868|PMID:28492532 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:0111596 distal arthrogryposis type 1 ISO RGD:70824 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I PMID:30777867 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:70824 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:30777867 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:10286 prostate carcinoma disease_progression ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:primary tumor, metastatic carcinoma (human) PMID:7639332|REF_RGD_ID:2317554 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:1059 intellectual disability ISO RGD:70824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:22703879|PMID:25741868|PMID:28492532|PMID:9140397 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:10894 D RGD:9068941 20220825 MouseDO OMIM:137580 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:1115 sarcoma ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:tumor (human) PMID:7693339|REF_RGD_ID:2317532 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:11714 gestational diabetes ISO RGD:10894 D RGD:9068941 20220825 MouseDO 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:12236 primary biliary cholangitis severity ISO RGD:10894 D RGD:9068941 20200609 RGD PMID:19208365|REF_RGD_ID:14694826 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:12849 autistic disorder ISO RGD:70824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, 9 PMID:17053076 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:14566 disease of cellular proliferation ISO RGD:70824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:10417759|PMID:10433944|PMID:1104268|PMID:11750879|PMID:11927612|PMID:12460923|PMID:14559814|PMID:15371818|PMID:16189274|PMID:17483355|PMID:18564920|PMID:20670955|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25605252|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26467025|PMID:27153395|PMID:28492532|PMID:28619094|PMID:29202410|PMID:32934698|PMID:9140397|PMID:9326629|PMID:9826708|PMID:9927037 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:1561 cognitive disorder ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20080979 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:1612 breast cancer ISO RGD:10894 D RGD:9068941 20220825 MouseDO OMIM:114480 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:1749 squamous cell carcinoma ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22948846 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:1790 malignant mesothelioma ISO RGD:70824 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:1793 pancreatic cancer ISO RGD:3082 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (rat) PMID:9211490|REF_RGD_ID:2317613 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:1793 pancreatic cancer severity ISO RGD:70824 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (human) PMID:15448002|REF_RGD_ID:2317235 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:1909 melanoma ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29426936 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:2349 arteriosclerosis ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:femoral artery, atherosclerotic lesions (human) PMID:17405187|REF_RGD_ID:2317493 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:2394 ovarian cancer ISO RGD:70824 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532|PMID:28873162 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:299 adenocarcinoma ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20934974|PMID:22042947 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:3008 invasive ductal carcinoma severity ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:tumor (human) PMID:10590366|REF_RGD_ID:2317607 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:3021 acute kidney failure ISO RGD:3082 D RGD:9068941 20200609 RGD protein:increased expression:renal parenchyma (rat) PMID:17940345|REF_RGD_ID:2317469 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:305 carcinoma ISO RGD:70824 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12460923|PMID:14559814|PMID:15371818|PMID:15485908|PMID:17483355|PMID:21400509|PMID:21642981|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23610116|PMID:23806086|PMID:24088041|PMID:24121490|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25605252|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26467025|PMID:28492532|PMID:29202410|PMID:32934698|PMID:9024657|PMID:9140397|PMID:9326629|PMID:9826708 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:3068 glioblastoma ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22162573 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:3069 malignant astrocytoma ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11223164 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:3070 high grade glioma ISO RGD:3082 D RGD:9068941 20200609 RGD protein:increased expression:brain, glioma (rat) PMID:18194445|REF_RGD_ID:2317467 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:3347 osteosarcoma ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22235915 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:3459 breast carcinoma ISO RGD:70824 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Carcinoma of breast PMID:21774103|PMID:21970370|PMID:25741868|PMID:28259294|PMID:28492532|PMID:29641532 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:3587 pancreatic ductal carcinoma ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic duct (human) PMID:7866999|REF_RGD_ID:2317530 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:3827 congenital diaphragmatic hernia ISO RGD:70824 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Agenesis of hemidiaphragm PMID:1104268|PMID:14559814|PMID:17483355|PMID:21970370|PMID:22703879|PMID:23806086|PMID:24088041|PMID:24728327|PMID:25605252|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26467025|PMID:28492532|PMID:32934698 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:3905 lung carcinoma ISO RGD:70824 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:26637977|PMID:26892698 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:3907 lung squamous cell carcinoma ISO RGD:70824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21623265|PMID:21815704|PMID:22787409|PMID:24688052 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:70824 D RGD:9068941 20200609 RGD PMID:24092988|REF_RGD_ID:13434906 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:70824 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29360161|PMID:29641532|PMID:30093976|PMID:30530636|PMID:32934698|PMID:33588785|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:70824 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26700204|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29202410|PMID:29360161|PMID:29641532|PMID:29684080|PMID:30093976|PMID:30530636|PMID:32091409|PMID:32830346|PMID:32934698|PMID:33588785|PMID:33606809|PMID:34646395|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:70824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma with paraneoplastic erythrocytosis | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25636233|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26700204|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:28961830|PMID:29084058|PMID:29202410|PMID:29219214|PMID:29360161|PMID:29641532|PMID:29684080|PMID:29978187|PMID:30093976|PMID:30530636|PMID:32091409|PMID:32830346|PMID:32934698|PMID:33255238|PMID:33588785|PMID:33606809|PMID:34646395|PMID:34882875|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:70824 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25636233|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26700204|PMID:26718692|PMID:26833332|PMID:26887047|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:28961830|PMID:28975465|PMID:29084058|PMID:29202410|PMID:29219214|PMID:29360161|PMID:29641532|PMID:29684080|PMID:29978187|PMID:30093976|PMID:30530636|PMID:32091409|PMID:32830346|PMID:32934698|PMID:33255238|PMID:33588785|PMID:33606809|PMID:34646395|PMID:34882875|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4451 renal carcinoma ISO RGD:70824 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Renal carcinoma PMID:10327054|PMID:10433944|PMID:11354004|PMID:11750879|PMID:15485908|PMID:17483355|PMID:18829470|PMID:21400509|PMID:21642981|PMID:23213094|PMID:23610116|PMID:24121490|PMID:25157968|PMID:28492532|PMID:29202410|PMID:9024657|PMID:9140397|PMID:9326629|PMID:9563489|PMID:9731534|PMID:9826708 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:70824 D RGD:7240710 20180919 OMIM 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:70824 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21970370|PMID:22703879|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24339735|PMID:24728327|PMID:25157968|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28492532|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29360161|PMID:29641532|PMID:30093976|PMID:30530636|PMID:32934698|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:70824 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21970370|PMID:22703879|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24339735|PMID:24728327|PMID:25157968|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28476232|PMID:28492532|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29360161|PMID:29641532|PMID:30093976|PMID:30530636|PMID:32934698|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:70824 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16434318|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21970370|PMID:22703879|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24339735|PMID:24728327|PMID:25157968|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28476232|PMID:28492532|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29202410|PMID:29360161|PMID:29641532|PMID:29684080|PMID:30093976|PMID:30530636|PMID:32934698|PMID:33255238|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4552 large cell carcinoma severity ISO RGD:70824 D RGD:9068941 20200609 RGD PMID:20019837|REF_RGD_ID:2317441 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:70824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:3082 D RGD:9068941 20200609 RGD protein:increased expression:liver, biliary epithelium (rat) PMID:14656942|REF_RGD_ID:2317601 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver, carcinoma (human) PMID:16818635|REF_RGD_ID:2317578 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4977 lymphedema ISO RGD:70824 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Lymphoedema PMID:18564920|PMID:24339735|PMID:24728327|PMID:25637381|PMID:25741868|PMID:28492532|PMID:30530636 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:4989 pancreatitis ISO RGD:3082 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (rat) PMID:11737224|REF_RGD_ID:2317606 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:5419 schizophrenia ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20080979 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:5577 gastrinoma severity ISO RGD:70824 D RGD:9068941 20200609 RGD associated with Zollinger-Ellison Syndrome; mRNA:increased expression:tumor (human) PMID:12114431|REF_RGD_ID:2317605 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:70824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:70824 D RGD:7240710 20180130 OMIM 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:70824 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA PMID:14559814|PMID:15735036|PMID:16189274|PMID:17483355|PMID:18564920|PMID:19318576|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21970370|PMID:22703879|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26718692|PMID:27153395|PMID:28259294|PMID:28492532|PMID:28619094|PMID:29641532 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma severity ISO RGD:70824 D RGD:9068941 20220630 RGD protein:increased expression:liver (human) PMID:29303510|REF_RGD_ID:152995524 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:687 hepatoblastoma ISO RGD:70824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:27666373|PMID:28492532 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:769 neuroblastoma ISO RGD:70824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:824 periodontitis ISO RGD:3082 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:gingival pocket (rat) PMID:16827730|REF_RGD_ID:2317520 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:8567 Hodgkin's lymphoma ISO RGD:70824 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Classic Hodgkin lymphoma PMID:1104268|PMID:14559814|PMID:17483355|PMID:21970370|PMID:22703879|PMID:23806086|PMID:24088041|PMID:24728327|PMID:25605252|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26467025|PMID:28492532|PMID:32934698 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9000011 Gallbladder Neoplasms severity ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:gallbladder (human) PMID:19956499|REF_RGD_ID:2317582 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9000039 Spinal Cord Injuries ISO RGD:3082 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord (rat) PMID:17549731|REF_RGD_ID:2317487 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9000081 Lymphatic Metastasis ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29426936 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9000117 Esophageal Neoplasms ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22042947 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9000217 Stomach Neoplasms ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22042947|PMID:22729845 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9000722 Animal Hepatitis ISO RGD:3082 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:8781331|REF_RGD_ID:2317559 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20080979|PMID:21225626 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:70824 D RGD:9068941 20200609 RGD associated with Squamous Cell Carcinoma of the Tongue; PMID:22704061|REF_RGD_ID:8548616 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9001472 Nasal Polyps ISO RGD:70824 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:nasal cavity mucosa: PMID:16982975|REF_RGD_ID:8548613 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3082 D RGD:9068941 20200609 RGD protein:decreased expression:liver (rat) PMID:16958060|REF_RGD_ID:2317516 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11956651 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9002127 Osteofibrous Dysplasia ISO RGD:70824 D RGD:7240710 20230505 OMIM 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9002127 Osteofibrous Dysplasia ISO RGD:70824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteofibrous dysplasia | ClinVar Annotator: match by term: TIBIA, BOWING OF, WITH PSEUDARTHROSIS AND PECTUS EXCAVATUM | ClinVar Annotator: match by term: Tibia, bowing of, with pseudarthrosis and pectus excavatum PMID:11042681|PMID:1270474|PMID:12920089|PMID:14559814|PMID:15592501|PMID:16203897|PMID:21774103|PMID:21970370|PMID:22703879|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26637977|PMID:28259294|PMID:28492532|PMID:28975465|PMID:29641532|PMID:32830346|PMID:9234973 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9002242 Distal Arthrogryposis Type 11 ISO RGD:70824 D RGD:7240710 20220831 OMIM 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9002242 Distal Arthrogryposis Type 11 ISO RGD:70824 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 11 PMID:30777867 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9002265 Kidney Neoplasms ISO RGD:70824 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:9140397|REF_RGD_ID:1600122 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9002762 Ovarian Neoplasms ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20661229 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9002936 Bile Duct Neoplasms ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:intrahepatic bile duct (human) PMID:15892172|REF_RGD_ID:2317585 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9003936 Cardiomegaly ISO RGD:3082 D RGD:9068941 20200609 RGD protein:increased expression:ventricle (rat) PMID:10489112|REF_RGD_ID:2317547 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9004009 Reperfusion Injury ISO RGD:3082 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (rat) PMID:17113948|REF_RGD_ID:2317505 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9004217 Nerve Sheath Neoplasms disease_progression ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:tumor (human) PMID:9308731|REF_RGD_ID:2317564 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15654357 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9004590 Acute Liver Failure ISO RGD:3082 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:17009398|REF_RGD_ID:2317515 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9005172 Lung Neoplasms ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20934974 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9005369 Hepatomegaly ISO RGD:70824 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3082 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, tubule, epithelium (rat) PMID:8997394|REF_RGD_ID:2317555 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9006205 Animal Disease Models ISO RGD:70824 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9006599 Hypertriglyceridemia ISO RGD:70824 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:70824 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26718692|PMID:26833332|PMID:26887047|PMID:27153395|PMID:27666373|PMID:28259294|PMID:28294470|PMID:28476232|PMID:28492532|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29202410|PMID:29360161|PMID:29641532|PMID:29684080|PMID:30093976|PMID:30530636|PMID:32934698|PMID:33255238|PMID:34882875|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70824 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21904579|PMID:21970370|PMID:22703879|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24728327|PMID:25394175|PMID:25605252|PMID:25637381|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:29324814|PMID:29641532|PMID:30093976|PMID:32934698|PMID:33588785|PMID:9140397|PMID:9326629|PMID:9536098 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25636233|PMID:25637381|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26637977|PMID:26700204|PMID:26718692|PMID:26887047|PMID:26892698|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29202410|PMID:29324814|PMID:29360161|PMID:29641532|PMID:29684080|PMID:30093976|PMID:30530636|PMID:32091409|PMID:32830346|PMID:32934698|PMID:33255238|PMID:33588785|PMID:33606809|PMID:34646395|PMID:34882875|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70824 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15485908|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21400509|PMID:21642981|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23610116|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25636233|PMID:25637381|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26637977|PMID:26700204|PMID:26718692|PMID:26887047|PMID:26892698|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:28975465|PMID:29084058|PMID:29202410|PMID:29324814|PMID:29360161|PMID:29641532|PMID:29684080|PMID:29978187|PMID:30093976|PMID:30530636|PMID:32091409|PMID:32830346|PMID:32934698|PMID:33255238|PMID:33588785|PMID:33606809|PMID:34646395|PMID:34882875|PMID:9024657|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9007702 Carcinogenesis ISO RGD:70824 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9007715 Endometrial Neoplasms ISO RGD:3082 D RGD:9068941 20200609 RGD DNA:amplification PMID:11719459|REF_RGD_ID:70557 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9008105 Cystic, Mucinous, and Serous Neoplasms ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, liver, epithelium (human) PMID:18208800|REF_RGD_ID:2317574 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9008443 Colorectal Neoplasms ISO RGD:70824 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:colon mucosa (human) PMID:9815967|REF_RGD_ID:2317534 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9008510 Chronic Hepatitis ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9008510 Chronic Hepatitis severity ISO RGD:70824 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:8778194|REF_RGD_ID:14694827 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9119 acute myeloid leukemia ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683780 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:916 liver benign neoplasm onset ISO RGD:3082 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:neoplastic liver (rat) PMID:11956651|REF_RGD_ID:2317546 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9256 colorectal cancer ISO RGD:70824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9452 fatty liver disease ISO RGD:70824 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 12348436 MET MET proto-oncogene, receptor tyrosine kinase gene DOID:9538 multiple myeloma ISO RGD:70824 D RGD:9068941 20200609 RGD PMID:11830493|REF_RGD_ID:2317526 12348470 HRH1 histamine receptor H1 gene DOID:0060001 withdrawal disorder ISO RGD:736085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8870037 12348470 HRH1 histamine receptor H1 gene DOID:0060496 respiratory allergy ISO RGD:736085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12095164 12348470 HRH1 histamine receptor H1 gene DOID:1272 telangiectasis ISO RGD:736085 D RGD:9068941 20200702 CTD CTD Direct Evidence: therapeutic PMID:32061592 12348470 HRH1 histamine receptor H1 gene DOID:1936 atherosclerosis ISO RGD:736085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25020133 12348470 HRH1 histamine receptor H1 gene DOID:4481 allergic rhinitis ISO RGD:736085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23333628 12348470 HRH1 histamine receptor H1 gene DOID:4483 rhinitis ISO RGD:736085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12167471 12348470 HRH1 histamine receptor H1 gene DOID:5419 schizophrenia ISO RGD:736085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1912125 12348470 HRH1 histamine receptor H1 gene DOID:630 genetic disease ISO RGD:736085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348470 HRH1 histamine receptor H1 gene DOID:9000641 Pain ISO RGD:736085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12128009|PMID:14569158 12348470 HRH1 histamine receptor H1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12348470 HRH1 histamine receptor H1 gene DOID:9006024 Hypotension ISO RGD:736085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2105067 12348470 HRH1 histamine receptor H1 gene DOID:9006202 Pruritus ISO RGD:736085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19652466 12348470 HRH1 histamine receptor H1 gene DOID:9008511 Extravasation of Diagnostic and Therapeutic Materials ISO RGD:736085 D RGD:9068941 20200702 CTD CTD Direct Evidence: therapeutic PMID:32061592 12348479 NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 gene DOID:1826 epilepsy ISO RGD:1350688 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12348479 NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 gene DOID:3534 Lafora disease IAGP D RGD:12801476 20211103 OMIA Myoclonus epilepsy of Lafora PMID:1261712|PMID:2165776|PMID:11899039|PMID:15744941|PMID:15637270|PMID:21908571|PMID:23683021|PMID:24070682|PMID:27747878|PMID:26931499|PMID:28767715|PMID:30525203|PMID:31172540|PMID:34263924|PMID:34486182|PMID:33086413|PMID:33769611 12348479 NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 gene DOID:3534 Lafora disease ISO RGD:1350688 D RGD:7240710 20180130 OMIM 12348479 NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 gene DOID:3534 Lafora disease ISO RGD:1350688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lafora disease PMID:12958597|PMID:12960212|PMID:15781812|PMID:15930137|PMID:16021330|PMID:16134145|PMID:16190947|PMID:16311711|PMID:16529633|PMID:16950819|PMID:17389303|PMID:17952067|PMID:18029386|PMID:18256682|PMID:18263761|PMID:18311786|PMID:18414213|PMID:19267391|PMID:19322595|PMID:19744044|PMID:20301563|PMID:20738377|PMID:21505799|PMID:22047982|PMID:22815132|PMID:23317923|PMID:23806086|PMID:24452334|PMID:25270369|PMID:25401298|PMID:25667860|PMID:25683376|PMID:25741868|PMID:26467025|PMID:27194917|PMID:28492532|PMID:28556688|PMID:29431110|PMID:29588937|PMID:29655203|PMID:30701169|PMID:31227012|PMID:31758957|PMID:31858178 12348479 NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1350688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12958597|PMID:15781812|PMID:16021330|PMID:16134145|PMID:16190947|PMID:16311711|PMID:16529633|PMID:17952067|PMID:18263761|PMID:18311786|PMID:18414213|PMID:19267391|PMID:20301563|PMID:20738377|PMID:21505799|PMID:22047982|PMID:23806086|PMID:24452334|PMID:25270369|PMID:25401298|PMID:25667860|PMID:25683376|PMID:25741868|PMID:26467025|PMID:27194917|PMID:28492532|PMID:28556688|PMID:31227012 12348479 NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1350688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 12348479 NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 gene DOID:9002113 Progressive Myoclonic Epilepsy 2B ISO RGD:1350688 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 2b PMID:12958597|PMID:12960212|PMID:15781812|PMID:15930137|PMID:16134145|PMID:16311711|PMID:16529633|PMID:16950819|PMID:18029386|PMID:18256682|PMID:18263761|PMID:18311786|PMID:19744044|PMID:20301563|PMID:20738377|PMID:21505799|PMID:22815132|PMID:25270369|PMID:25683376|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28556688|PMID:29431110|PMID:31227012|PMID:31758957|PMID:31858178 12348482 CAAP1 caspase activity and apoptosis inhibitor 1 gene DOID:630 genetic disease ISO RGD:1344567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348492 FNTA farnesyltransferase, CAAX box, alpha gene DOID:0090039 torsion dystonia 6 ISO RGD:730816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 12348492 FNTA farnesyltransferase, CAAX box, alpha gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:730816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 PMID:28492532 12348492 FNTA farnesyltransferase, CAAX box, alpha gene DOID:0111393 mucopolysaccharidosis type IIIC ISO RGD:730816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C PMID:28492532 12348492 FNTA farnesyltransferase, CAAX box, alpha gene DOID:0111959 immunodeficiency 15B ISO RGD:730816 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 12348492 FNTA farnesyltransferase, CAAX box, alpha gene DOID:630 genetic disease ISO RGD:730816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348492 FNTA farnesyltransferase, CAAX box, alpha gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:730816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 12348492 FNTA farnesyltransferase, CAAX box, alpha gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:730816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 12348508 CSTF3 cleavage stimulation factor subunit 3 gene DOID:1059 intellectual disability ISO RGD:1314208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12348508 CSTF3 cleavage stimulation factor subunit 3 gene DOID:630 genetic disease ISO RGD:1314208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348534 COMMD3 COMM domain containing 3 gene DOID:630 genetic disease ISO RGD:1349755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348559 COX18 cytochrome c oxidase assembly factor COX18 gene DOID:10003 sensorineural hearing loss ISO RGD:1604709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 12348559 COX18 cytochrome c oxidase assembly factor COX18 gene DOID:630 genetic disease ISO RGD:1604709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348559 COX18 cytochrome c oxidase assembly factor COX18 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1604709 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12348571 FAM221A family with sequence similarity 221 member A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12348571 FAM221A family with sequence similarity 221 member A gene DOID:630 genetic disease ISO RGD:1604475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348583 NOL10 nucleolar protein 10 gene DOID:11372 megacolon ISO RGD:1602460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12348583 NOL10 nucleolar protein 10 gene DOID:630 genetic disease ISO RGD:1602460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348611 RFX6 regulatory factor X6 gene DOID:0060163 body dysmorphic disorder ISO RGD:1316716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 12348611 RFX6 regulatory factor X6 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1316716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12348611 RFX6 regulatory factor X6 gene DOID:1059 intellectual disability ISO RGD:1316716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 12348611 RFX6 regulatory factor X6 gene DOID:10907 microcephaly ISO RGD:1316716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 12348611 RFX6 regulatory factor X6 gene DOID:1826 epilepsy ISO RGD:1316716 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12348611 RFX6 regulatory factor X6 gene DOID:1909 melanoma ISO RGD:1316716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12348611 RFX6 regulatory factor X6 gene DOID:630 genetic disease ISO RGD:1316716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12348611 RFX6 regulatory factor X6 gene DOID:9000495 Tremor ISO RGD:1316716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12348611 RFX6 regulatory factor X6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24390282 12348611 RFX6 regulatory factor X6 gene DOID:9006077 Martinez-Frias Syndrome ISO RGD:1316716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA PMID:15592663|PMID:18414213|PMID:18512226|PMID:19887127|PMID:20148032|PMID:25741868|PMID:26264437|PMID:26559129|PMID:27523286|PMID:28492532|PMID:29026101 12348611 RFX6 regulatory factor X6 gene DOID:9007412 Mitchell-Riley Syndrome ISO RGD:1316716 D RGD:7240710 20180130 OMIM 12348611 RFX6 regulatory factor X6 gene DOID:9007412 Mitchell-Riley Syndrome ISO RGD:1316716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitchell-Riley syndrome PMID:15592663|PMID:18414213|PMID:18512226|PMID:19887127|PMID:20148032|PMID:25741868|PMID:26264437|PMID:26559129|PMID:27523286|PMID:28492532|PMID:29026101 12348611 RFX6 regulatory factor X6 gene DOID:9351 diabetes mellitus ISO RGD:1316716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:15592663|PMID:18414213|PMID:20148032|PMID:25741868|PMID:28492532|PMID:29026101 12348611 RFX6 regulatory factor X6 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12348633 LOC484934 zinc finger protein 709-like gene DOID:630 genetic disease ISO RGD:1350989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348642 HECTD2 HECT domain E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1313620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348676 ITGA1 integrin subunit alpha 1 gene DOID:0080600 COVID-19 ISO RGD:69006 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12348676 ITGA1 integrin subunit alpha 1 gene DOID:1612 breast cancer ISO RGD:69006 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:down-regulated in tumors lacking a basement membrane PMID:9408292|REF_RGD_ID:2302120 12348676 ITGA1 integrin subunit alpha 1 gene DOID:2349 arteriosclerosis ISO RGD:69007 D RGD:9068941 20200609 RGD atherosclerosis; DNA:knockout::genetic knockout or treatment with a blocking antibody reduced atherosclerotic inflammation and plaque formation in ApoE-/- mice PMID:15976328|REF_RGD_ID:2302133 12348676 ITGA1 integrin subunit alpha 1 gene DOID:630 genetic disease ISO RGD:69006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348676 ITGA1 integrin subunit alpha 1 gene DOID:9002211 Hyperalgesia ISO RGD:2923 D RGD:9068941 20200609 RGD PGE2-induced PMID:14984413|REF_RGD_ID:2302389 12348676 ITGA1 integrin subunit alpha 1 gene DOID:9002211 Hyperalgesia ISO RGD:2923 D RGD:9068941 20200609 RGD knock-down using a specific monoclonal antibody or RNAi PMID:15836982|REF_RGD_ID:2302139 12348676 ITGA1 integrin subunit alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12348676 ITGA1 integrin subunit alpha 1 gene DOID:9007402 Gliosis ISO RGD:69006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12851778 12348676 ITGA1 integrin subunit alpha 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 12348709 LOC489397 nicotinamide N-methyltransferase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1316407 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12348709 LOC489397 nicotinamide N-methyltransferase gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1316407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 12348709 LOC489397 nicotinamide N-methyltransferase gene DOID:10283 prostate cancer ISO RGD:1316407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12348709 LOC489397 nicotinamide N-methyltransferase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12348709 LOC489397 nicotinamide N-methyltransferase gene DOID:630 genetic disease ISO RGD:1316407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348709 LOC489397 nicotinamide N-methyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:1316407 D RGD:9068941 20210521 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12348709 LOC489397 nicotinamide N-methyltransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316407 D RGD:9068941 20210521 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12348718 PHF23 PHD finger protein 23 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1601853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12348718 PHF23 PHD finger protein 23 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1601853 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12348718 PHF23 PHD finger protein 23 gene DOID:1059 intellectual disability ISO RGD:1601853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12348718 PHF23 PHD finger protein 23 gene DOID:12177 common variable immunodeficiency ISO RGD:1601853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12348718 PHF23 PHD finger protein 23 gene DOID:2729 dyskeratosis congenita ISO RGD:1601853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12348718 PHF23 PHD finger protein 23 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1601853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12348718 PHF23 PHD finger protein 23 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1601853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12348718 PHF23 PHD finger protein 23 gene DOID:630 genetic disease ISO RGD:1601853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348727 TBX6 T-box transcription factor 6 gene DOID:0060019 coronin-1A deficiency ISO RGD:1317068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:28492532 12348727 TBX6 T-box transcription factor 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1317068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12348727 TBX6 T-box transcription factor 6 gene DOID:0060249 scoliosis ISO RGD:1317068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25564734|PMID:25741868|PMID:28054739|PMID:28492532|PMID:31015262|PMID:31471994 12348727 TBX6 T-box transcription factor 6 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1317068 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12348727 TBX6 T-box transcription factor 6 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1317068 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12348727 TBX6 T-box transcription factor 6 gene DOID:0080205 CAKUT ISO RGD:1317068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30578417 12348727 TBX6 T-box transcription factor 6 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1317068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12348727 TBX6 T-box transcription factor 6 gene DOID:0112362 spondylocostal dysostosis 2 ISO RGD:1317068 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive PMID:20503311|PMID:23335591 12348727 TBX6 T-box transcription factor 6 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1317068 D RGD:7240710 20180130 OMIM 12348727 TBX6 T-box transcription factor 6 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1317068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:20503311|PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868|PMID:27861764|PMID:28054739|PMID:28492532|PMID:28990171|PMID:30636772|PMID:31015262|PMID:31471994 12348727 TBX6 T-box transcription factor 6 gene DOID:12849 autistic disorder ISO RGD:1317068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12348727 TBX6 T-box transcription factor 6 gene DOID:1882 atrial heart septal defect ISO RGD:1317068 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12348727 TBX6 T-box transcription factor 6 gene DOID:5419 schizophrenia ISO RGD:1317068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12348727 TBX6 T-box transcription factor 6 gene DOID:630 genetic disease ISO RGD:1317068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28054739|PMID:28492532|PMID:30636772|PMID:31471994 12348727 TBX6 T-box transcription factor 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 12348727 TBX6 T-box transcription factor 6 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1317068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12348727 TBX6 T-box transcription factor 6 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1317068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12348739 OR52E1 olfactory receptor family 52 subfamily E member 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1346521 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12348742 TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12348742 TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1603527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 12348742 TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1603527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 12348742 TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:12849 autistic disorder ISO RGD:1603527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12348742 TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:630 genetic disease ISO RGD:1603527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348742 TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1603527 D RGD:9068941 20221117 RGD mRNA, protein:increased expression:synovial (human) PMID:22660635|REF_RGD_ID:155663483 12348742 TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12348742 TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:1603527 D RGD:9068941 20221117 RGD mRNA, protein:increased expression:kidney (human) PMID:22660635|REF_RGD_ID:155663483 12348742 TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1603527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 12348770 AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 gene DOID:0080600 COVID-19 ISO RGD:1319477 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12348770 AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 gene DOID:12849 autistic disorder ISO RGD:1319477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12348770 AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 gene DOID:630 genetic disease ISO RGD:1319477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12348770 AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1319477 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12348802 NDUFC1 NADH:ubiquinone oxidoreductase subunit C1 gene DOID:630 genetic disease ISO RGD:1353150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348810 FUBP3 far upstream element binding protein 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1315940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12348810 FUBP3 far upstream element binding protein 3 gene DOID:630 genetic disease ISO RGD:1315940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348810 FUBP3 far upstream element binding protein 3 gene DOID:9273 citrullinemia ISO RGD:1315940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:28492532 12348832 LOC608835 proline-rich protein 3-like gene DOID:11372 megacolon ISO RGD:1343981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12348832 LOC608835 proline-rich protein 3-like gene DOID:630 genetic disease ISO RGD:1343981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348837 SET SET nuclear proto-oncogene gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12348837 SET SET nuclear proto-oncogene gene DOID:1059 intellectual disability ISO RGD:1316679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:11231286|PMID:25356899|PMID:25741868|PMID:27775603|PMID:28135719|PMID:29688601|PMID:34008892 12348837 SET SET nuclear proto-oncogene gene DOID:4441 dysgerminoma ISO RGD:1316679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysgerminoma PMID:26822237 12348837 SET SET nuclear proto-oncogene gene DOID:630 genetic disease ISO RGD:1316679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11231286|PMID:25356899|PMID:25741868|PMID:27775603|PMID:28135719|PMID:29688601|PMID:34008892 12348837 SET SET nuclear proto-oncogene gene DOID:684 hepatocellular carcinoma ISO RGD:1316679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:26822237 12348837 SET SET nuclear proto-oncogene gene DOID:9000141 Autosomal Dominant Intellectual Developmental Disorder 58 ISO RGD:1316679 D RGD:7240710 20190315 OMIM 12348837 SET SET nuclear proto-oncogene gene DOID:9000141 Autosomal Dominant Intellectual Developmental Disorder 58 ISO RGD:1316679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 58 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 58 PMID:11231286|PMID:25356899|PMID:25741868|PMID:27775603|PMID:28135719|PMID:29688601|PMID:34008892 12348837 SET SET nuclear proto-oncogene gene DOID:9000141 Autosomal Dominant Intellectual Developmental Disorder 58 ISO RGD:1316679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 58 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 58 PMID:11231286|PMID:17576681|PMID:25356899|PMID:25741868|PMID:27775603|PMID:28135719|PMID:28492532|PMID:29688601|PMID:34008892|PMID:9536098 12348837 SET SET nuclear proto-oncogene gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316679 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24555657 12348837 SET SET nuclear proto-oncogene gene DOID:9005749 Necrosis ISO RGD:1316679 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24555657 12348837 SET SET nuclear proto-oncogene gene DOID:9008086 Developmental Disabilities ISO RGD:1316679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:11231286|PMID:25356899|PMID:25741868|PMID:27775603|PMID:28135719|PMID:29688601|PMID:34008892 12348849 S100Z S100 calcium binding protein Z gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1348648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 12348849 S100Z S100 calcium binding protein Z gene DOID:630 genetic disease ISO RGD:1348648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348849 S100Z S100 calcium binding protein Z gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12348854 DPY19L3 dpy-19 like C-mannosyltransferase 3 gene DOID:630 genetic disease ISO RGD:1604230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348889 OR7G3 olfactory receptor family 7 subfamily G member 3 gene DOID:12849 autistic disorder ISO RGD:1345338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12348889 OR7G3 olfactory receptor family 7 subfamily G member 3 gene DOID:630 genetic disease ISO RGD:1345338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348897 MIR326 microRNA mir-326 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1348728 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12348897 MIR326 microRNA mir-326 gene DOID:1059 intellectual disability ISO RGD:1348728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12348897 MIR326 microRNA mir-326 gene DOID:3770 pulmonary fibrosis ISO RGD:1348728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 12348897 MIR326 microRNA mir-326 gene DOID:6000 congestive heart failure ISO RGD:1348728 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12348969 NTN5 netrin 5 gene DOID:630 genetic disease ISO RGD:1606977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348990 ZP1 zona pellucida glycoprotein 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1347809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12348990 ZP1 zona pellucida glycoprotein 1 gene DOID:1059 intellectual disability ISO RGD:1347809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12348990 ZP1 zona pellucida glycoprotein 1 gene DOID:630 genetic disease ISO RGD:1347809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12348990 ZP1 zona pellucida glycoprotein 1 gene DOID:9005770 Oocyte Maturation Defect 3 ISO RGD:1347809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 3 PMID:25741868 12348990 ZP1 zona pellucida glycoprotein 1 gene DOID:9006513 Oocyte Maturation Defect 1 ISO RGD:1347809 D RGD:7240710 20180130 OMIM 12348990 ZP1 zona pellucida glycoprotein 1 gene DOID:9006513 Oocyte Maturation Defect 1 ISO RGD:1347809 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 1 | ClinVar Annotator: match by term: Oocyte maturation defect 1 PMID:24670168|PMID:25741868|PMID:30810869 12349007 CIMAP1A ciliary microtubule associated protein 1A gene DOID:630 genetic disease ISO RGD:1320693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349018 RORB RAR related orphan receptor B gene DOID:0111316 idiopathic generalized epilepsy 15 ISO RGD:1315588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 15 PMID:16199547|PMID:25356972|PMID:25741868|PMID:27352968|PMID:28492532 12349018 RORB RAR related orphan receptor B gene DOID:0111316 idiopathic generalized epilepsy 15 susceptibility ISO RGD:1315588 D RGD:7240710 20190904 OMIM 12349018 RORB RAR related orphan receptor B gene DOID:1826 epilepsy ISO RGD:1315588 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12349018 RORB RAR related orphan receptor B gene DOID:289 endometriosis ISO RGD:1315588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12349018 RORB RAR related orphan receptor B gene DOID:630 genetic disease ISO RGD:1315588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356972|PMID:27352968|PMID:28492532 12349018 RORB RAR related orphan receptor B gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:1315588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:25950944 12349032 GALNTL6 polypeptide N-acetylgalactosaminyltransferase like 6 gene DOID:630 genetic disease ISO RGD:2301498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349032 GALNTL6 polypeptide N-acetylgalactosaminyltransferase like 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2301498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12349049 BAHD1 bromo adjacent homology domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1345980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12349049 BAHD1 bromo adjacent homology domain containing 1 gene DOID:630 genetic disease ISO RGD:1345980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349049 BAHD1 bromo adjacent homology domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1345980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12349088 GNB4 G protein subunit beta 4 gene DOID:0060224 atrial fibrillation ISO RGD:1348614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12349088 GNB4 G protein subunit beta 4 gene DOID:0110206 Charcot-Marie-Tooth disease dominant intermediate F ISO RGD:1348614 D RGD:7240710 20180130 OMIM 12349088 GNB4 G protein subunit beta 4 gene DOID:0110206 Charcot-Marie-Tooth disease dominant intermediate F ISO RGD:1348614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate F PMID:16199547|PMID:17576681|PMID:23434117|PMID:25741868|PMID:27549087|PMID:27908631|PMID:28166811|PMID:28492532|PMID:28642160|PMID:31211173|PMID:34071515|PMID:9536098 12349088 GNB4 G protein subunit beta 4 gene DOID:0111546 Currarino syndrome ISO RGD:1348614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12349088 GNB4 G protein subunit beta 4 gene DOID:1389 polyneuropathy ISO RGD:1348614 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:25741868 12349088 GNB4 G protein subunit beta 4 gene DOID:630 genetic disease ISO RGD:1348614 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12349088 GNB4 G protein subunit beta 4 gene DOID:6457 Cowden syndrome ISO RGD:1348614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden syndrome PMID:28492532 12349088 GNB4 G protein subunit beta 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 12349102 TRIM38 tripartite motif containing 38 gene DOID:630 genetic disease ISO RGD:1349740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349112 SLC25A35 solute carrier family 25 member 35 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1605787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12349112 SLC25A35 solute carrier family 25 member 35 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1605787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:28492532 12349112 SLC25A35 solute carrier family 25 member 35 gene DOID:2729 dyskeratosis congenita ISO RGD:1605787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12349112 SLC25A35 solute carrier family 25 member 35 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1605787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12349112 SLC25A35 solute carrier family 25 member 35 gene DOID:630 genetic disease ISO RGD:1605787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12349112 SLC25A35 solute carrier family 25 member 35 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1605787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:17576681|PMID:21447824|PMID:22010171|PMID:25741868|PMID:26903377|PMID:28492532|PMID:30282806|PMID:9536098 12349126 TEX11 testis expressed 11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12349126 TEX11 testis expressed 11 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1347600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25970010|PMID:28132688 12349126 TEX11 testis expressed 11 gene DOID:0070185 X-linked spermatogenic failure 2 ISO RGD:1347600 D RGD:7240710 20180130 OMIM 12349126 TEX11 testis expressed 11 gene DOID:0070185 X-linked spermatogenic failure 2 ISO RGD:1347600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 2 PMID:25970010|PMID:28492532 12349126 TEX11 testis expressed 11 gene DOID:1059 intellectual disability ISO RGD:1347600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31690835 12349126 TEX11 testis expressed 11 gene DOID:12849 autistic disorder ISO RGD:1347600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12349126 TEX11 testis expressed 11 gene DOID:630 genetic disease ISO RGD:1347600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349126 TEX11 testis expressed 11 gene DOID:9007898 FG Syndrome 1 ISO RGD:1347600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 12349159 RRP12 ribosomal RNA processing 12 homolog gene DOID:630 genetic disease ISO RGD:1343951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349200 CCDC153 coiled-coil domain containing 153 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1604184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12349200 CCDC153 coiled-coil domain containing 153 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1604184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12349200 CCDC153 coiled-coil domain containing 153 gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1604184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:22742743|PMID:28492532 12349200 CCDC153 coiled-coil domain containing 153 gene DOID:0080690 RASopathy ISO RGD:1604184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 12349200 CCDC153 coiled-coil domain containing 153 gene DOID:0110651 long QT syndrome 10 ISO RGD:1604184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12349200 CCDC153 coiled-coil domain containing 153 gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1604184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:22742743|PMID:28492532 12349200 CCDC153 coiled-coil domain containing 153 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1604184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12349200 CCDC153 coiled-coil domain containing 153 gene DOID:0111971 immunodeficiency 18 ISO RGD:1604184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12349200 CCDC153 coiled-coil domain containing 153 gene DOID:0111972 immunodeficiency 19 ISO RGD:1604184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12349200 CCDC153 coiled-coil domain containing 153 gene DOID:0111973 immunodeficiency 17 ISO RGD:1604184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12349200 CCDC153 coiled-coil domain containing 153 gene DOID:5419 schizophrenia ISO RGD:1604184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12349200 CCDC153 coiled-coil domain containing 153 gene DOID:630 genetic disease ISO RGD:1604184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349200 CCDC153 coiled-coil domain containing 153 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12349200 CCDC153 coiled-coil domain containing 153 gene DOID:9007661 Dwarfism ISO RGD:1604184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12349230 INTS11 integrator complex subunit 11 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12349230 INTS11 integrator complex subunit 11 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603031 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12349230 INTS11 integrator complex subunit 11 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1603031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12349230 INTS11 integrator complex subunit 11 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1603031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12349230 INTS11 integrator complex subunit 11 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1603031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12349230 INTS11 integrator complex subunit 11 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12349230 INTS11 integrator complex subunit 11 gene DOID:0111934 immunodeficiency 38 ISO RGD:1603031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12349230 INTS11 integrator complex subunit 11 gene DOID:0111935 immunodeficiency 16 ISO RGD:1603031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12349230 INTS11 integrator complex subunit 11 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12349230 INTS11 integrator complex subunit 11 gene DOID:630 genetic disease ISO RGD:1603031 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349230 INTS11 integrator complex subunit 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12349230 INTS11 integrator complex subunit 11 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1603031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12349230 INTS11 integrator complex subunit 11 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12349259 DUOXA1 dual oxidase maturation factor 1 gene DOID:0050712 AGAT deficiency ISO RGD:1602196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 12349259 DUOXA1 dual oxidase maturation factor 1 gene DOID:2717 Bloom syndrome ISO RGD:1602196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12349259 DUOXA1 dual oxidase maturation factor 1 gene DOID:630 genetic disease ISO RGD:1602196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349259 DUOXA1 dual oxidase maturation factor 1 gene DOID:9256 colorectal cancer ISO RGD:1602196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12349285 RAB32 RAB32, member RAS oncogene family gene DOID:1024 leprosy ISO RGD:1345972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22019778 12349285 RAB32 RAB32, member RAS oncogene family gene DOID:14261 fragile X syndrome ISO RGD:1345972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fragile X syndrome 12349285 RAB32 RAB32, member RAS oncogene family gene DOID:3042 allergic contact dermatitis ISO RGD:1345972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 12349285 RAB32 RAB32, member RAS oncogene family gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12349285 RAB32 RAB32, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1345972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349285 RAB32 RAB32, member RAS oncogene family gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12349299 ZNF623 zinc finger protein 623 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1345531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12349299 ZNF623 zinc finger protein 623 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1345531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12349299 ZNF623 zinc finger protein 623 gene DOID:4621 holoprosencephaly ISO RGD:1345531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12349299 ZNF623 zinc finger protein 623 gene DOID:630 genetic disease ISO RGD:1345531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349319 SPACA7 sperm acrosome associated 7 gene DOID:2222 factor X deficiency ISO RGD:1606982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12349319 SPACA7 sperm acrosome associated 7 gene DOID:630 genetic disease ISO RGD:1606982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349367 ITGB3 integrin subunit beta 3 gene DOID:0050864 non-arteritic anterior ischemic optic neuropathy susceptibility ISO RGD:1345363 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:20162297|REF_RGD_ID:8693343 12349367 ITGB3 integrin subunit beta 3 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1345363 D RGD:9068941 20200609 RGD PMID:16121636|REF_RGD_ID:10755468 12349367 ITGB3 integrin subunit beta 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254450 12349367 ITGB3 integrin subunit beta 3 gene DOID:0060691 platelet-type bleeding disorder 16 ISO RGD:1345363 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 16 PMID:1371279|PMID:19570064|PMID:19821948|PMID:20804530|PMID:21287507|PMID:22490273|PMID:22862885|PMID:24617330|PMID:25741868|PMID:28492532|PMID:9351872 12349367 ITGB3 integrin subunit beta 3 gene DOID:0080199 colorectal carcinoma severity ISO RGD:1345363 D RGD:9068941 20200609 RGD PMID:11299820|REF_RGD_ID:5112894 12349367 ITGB3 integrin subunit beta 3 gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome severity ISO RGD:1345363 D RGD:9068941 20200609 RGD protein:increased expression:platelet PMID:18419255|REF_RGD_ID:6907404 12349367 ITGB3 integrin subunit beta 3 gene DOID:11847 coronary thrombosis ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8598867 12349367 ITGB3 integrin subunit beta 3 gene DOID:12361 Graves' disease ISO RGD:1345363 D RGD:9068941 20200609 RGD PMID:23109646|REF_RGD_ID:8693341 12349367 ITGB3 integrin subunit beta 3 gene DOID:12849 autistic disorder ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16721604|PMID:16724005|PMID:17203304 12349367 ITGB3 integrin subunit beta 3 gene DOID:13001 carotid stenosis ISO RGD:737483 D RGD:9068941 20200609 RGD PMID:15007005|REF_RGD_ID:1582450 12349367 ITGB3 integrin subunit beta 3 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:733132 D RGD:9068941 20200609 RGD PMID:21804539|REF_RGD_ID:6907385 12349367 ITGB3 integrin subunit beta 3 gene DOID:1588 thrombocytopenia ISO RGD:1345363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532|PMID:31064749|PMID:32581362 12349367 ITGB3 integrin subunit beta 3 gene DOID:2213 hemorrhagic disease ISO RGD:1345363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:31064749 12349367 ITGB3 integrin subunit beta 3 gene DOID:2219 Glanzmann's thrombasthenia ISO RGD:1345363 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 | ClinVar Annotator: match by term: Glanzmann thrombasthenia | ClinVar Annotator: match by term: Glanzmann thrombasthenia type A PMID:10233432|PMID:10583927|PMID:10727448|PMID:10891446|PMID:11507099|PMID:11723016|PMID:11776310|PMID:11806996|PMID:12083483|PMID:12152649|PMID:12353082|PMID:1371279|PMID:1430225|PMID:1438206|PMID:14516468|PMID:14629479|PMID:14690453|PMID:15583747|PMID:15634267|PMID:1602006|PMID:16199547|PMID:16463284|PMID:16722529|PMID:16879215|PMID:17264806|PMID:18832906|PMID:19570064|PMID:19691478|PMID:19821948|PMID:20020534|PMID:2014236|PMID:20438394|PMID:20514620|PMID:20804530|PMID:21113249|PMID:21287507|PMID:21658138|PMID:21917754|PMID:22190468|PMID:22250950|PMID:22490273|PMID:22862885|PMID:2392682|PMID:24236036|PMID:2428841|PMID:24617330|PMID:24685245|PMID:25373348|PMID:25539746|PMID:25728920|PMID:25741868|PMID:25827233|PMID:26829726|PMID:27469266|PMID:28492532|PMID:28748566|PMID:28983057|PMID:30138987|PMID:30792900|PMID:30828542|PMID:31064749|PMID:31088191|PMID:31565851|PMID:32139434|PMID:32237906|PMID:32581362|PMID:32757236|PMID:34355501|PMID:7570918|PMID:7694683|PMID:8080992|PMID:8132570|PMID:8457479|PMID:8598867|PMID:8667943|PMID:8781422|PMID:8838346|PMID:9215749|PMID:9351872|PMID:9376589|PMID:9450787|PMID:9700201|PMID:9787162|PMID:9845537 12349367 ITGB3 integrin subunit beta 3 gene DOID:224 transient cerebral ischemia ISO RGD:628868 D RGD:9068941 20200609 RGD PMID:18638458|REF_RGD_ID:6907424 12349367 ITGB3 integrin subunit beta 3 gene DOID:2349 arteriosclerosis ISO RGD:737483 D RGD:9068941 20200609 RGD PMID:12746502|REF_RGD_ID:5100478 12349367 ITGB3 integrin subunit beta 3 gene DOID:2841 asthma ISO RGD:1345363 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:17556058|REF_RGD_ID:5037230 12349367 ITGB3 integrin subunit beta 3 gene DOID:2921 glomerulonephritis ISO RGD:1345363 D RGD:9068941 20200609 RGD PMID:11051455|REF_RGD_ID:6907411 12349367 ITGB3 integrin subunit beta 3 gene DOID:2921 glomerulonephritis ISO RGD:628868 D RGD:9068941 20200609 RGD PMID:8083378|REF_RGD_ID:6907420 12349367 ITGB3 integrin subunit beta 3 gene DOID:3410 carotid artery thrombosis ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1605806 12349367 ITGB3 integrin subunit beta 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345363 D RGD:9068941 20200609 RGD PMID:19386436|REF_RGD_ID:5037228 12349367 ITGB3 integrin subunit beta 3 gene DOID:552 pneumonia disease_progression ISO RGD:737483 D RGD:9068941 20200609 RGD PMID:12746502|REF_RGD_ID:5100478 12349367 ITGB3 integrin subunit beta 3 gene DOID:5844 myocardial infarction ISO RGD:1345363 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:10583927|PMID:10727448|PMID:11723016|PMID:17264806|PMID:2014236|PMID:25728920|PMID:25741868|PMID:28492532|PMID:7570918|PMID:8598867|PMID:8667943|PMID:8838346|PMID:9700201 12349367 ITGB3 integrin subunit beta 3 gene DOID:5844 myocardial infarction no_association ISO RGD:1345363 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:9716140|REF_RGD_ID:5128498 12349367 ITGB3 integrin subunit beta 3 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1345363 D RGD:7240710 20230517 OMIM 12349367 ITGB3 integrin subunit beta 3 gene DOID:630 genetic disease ISO RGD:1345363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12349367 ITGB3 integrin subunit beta 3 gene DOID:783 end stage renal disease ISO RGD:1345363 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:polymorphism PMID:19368146|REF_RGD_ID:6907396 12349367 ITGB3 integrin subunit beta 3 gene DOID:850 lung disease ISO RGD:737483 D RGD:9068941 20200609 RGD acute lung injury PMID:19272161|REF_RGD_ID:5037229 12349367 ITGB3 integrin subunit beta 3 gene DOID:874 bacterial pneumonia ISO RGD:628868 D RGD:9068941 20200609 RGD protein:increased expression:lung, neutrophil PMID:15114484|REF_RGD_ID:4993468 12349367 ITGB3 integrin subunit beta 3 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1345363 D RGD:9068941 20200609 RGD PMID:10936026|REF_RGD_ID:10755473 12349367 ITGB3 integrin subunit beta 3 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:737483 D RGD:9068941 20200609 RGD PMID:24258817|REF_RGD_ID:10755475 12349367 ITGB3 integrin subunit beta 3 gene DOID:8947 diabetic retinopathy ISO RGD:1345363 D RGD:9068941 20200609 RGD protein:increased expression:optic choroid vascular plexus: PMID:11375345|REF_RGD_ID:8693344 12349367 ITGB3 integrin subunit beta 3 gene DOID:9000146 Plaque, Atherosclerotic severity ISO RGD:1345363 D RGD:9068941 20200609 RGD DNA:SNP: :rs5918(human) PMID:21353223|REF_RGD_ID:13602095 12349367 ITGB3 integrin subunit beta 3 gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:1345363 D RGD:9068941 20200609 RGD associated with Chronic Allograft Dysfunction;protein:increased expression:arteriole PMID:18234279|REF_RGD_ID:10755463 12349367 ITGB3 integrin subunit beta 3 gene DOID:9000430 Platelet-Type Bleeding Disorder 24 ISO RGD:1345363 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 24 PMID:15583747|PMID:18065693|PMID:19336737|PMID:20081061|PMID:20804530|PMID:23253071|PMID:25741868|PMID:27469266|PMID:28492532|PMID:33276370 12349367 ITGB3 integrin subunit beta 3 gene DOID:9000430 Platelet-Type Bleeding Disorder 24 susceptibility ISO RGD:1345363 D RGD:7240710 20230517 OMIM 12349367 ITGB3 integrin subunit beta 3 gene DOID:9000528 Coronary Disease ISO RGD:1345363 D RGD:9068941 20200609 RGD DNA:polymorphism:exon PMID:10583927|REF_RGD_ID:5128478 12349367 ITGB3 integrin subunit beta 3 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1345363 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:15817799|REF_RGD_ID:5037231 12349367 ITGB3 integrin subunit beta 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345363 D RGD:9068941 20200609 RGD associated with renal cell carcinoma;DNA:missense mutation:cds:p.L33P (human) PMID:16831169|REF_RGD_ID:6907406 12349367 ITGB3 integrin subunit beta 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737483 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:21107114|REF_RGD_ID:5037225 12349367 ITGB3 integrin subunit beta 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12349367 ITGB3 integrin subunit beta 3 gene DOID:9001627 Pathologic Constriction ISO RGD:1345363 D RGD:9068941 20200609 RGD DNA:polymorphism:exon PMID:9315527|REF_RGD_ID:5128501 12349367 ITGB3 integrin subunit beta 3 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15840736 12349367 ITGB3 integrin subunit beta 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16158739 12349367 ITGB3 integrin subunit beta 3 gene DOID:9002319 Glanzmann Thrombasthenia 1 ISO RGD:1345363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glanzmann thrombasthenia 1 PMID:11776310|PMID:1371279|PMID:15583747|PMID:1602006|PMID:25728920|PMID:25741868|PMID:28492532|PMID:30138987|PMID:32757236|PMID:9215749|PMID:9351872 12349367 ITGB3 integrin subunit beta 3 gene DOID:9002457 Experimental Arthritis ISO RGD:628868 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell PMID:16869003|REF_RGD_ID:2317300 12349367 ITGB3 integrin subunit beta 3 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9445356 12349367 ITGB3 integrin subunit beta 3 gene DOID:9003340 Neonatal Alloimmune Thrombocytopenia ISO RGD:1345363 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ca/Tu ALLOANTIGEN POLYMORPHISM | ClinVar Annotator: match by term: Fetal and neonatal alloimmune thrombocytopenia | ClinVar Annotator: match by term: Mo ALLOANTIGEN POLYMORPHISM | ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM PMID:1430225|PMID:14516468|PMID:21658138|PMID:2257303|PMID:25741868|PMID:25827233|PMID:28370162|PMID:28492532|PMID:7694683|PMID:8093349|PMID:8457479|PMID:9787162 12349367 ITGB3 integrin subunit beta 3 gene DOID:9003758 Banti's Syndrome ISO RGD:1345363 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.L33P (human) PMID:18685811|REF_RGD_ID:10755472 12349367 ITGB3 integrin subunit beta 3 gene DOID:9003790 Posttransfusion Purpura ISO RGD:1345363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM PMID:1430225|PMID:14516468|PMID:21658138|PMID:25741868|PMID:28492532|PMID:9787162 12349367 ITGB3 integrin subunit beta 3 gene DOID:9003790 Posttransfusion Purpura susceptibility ISO RGD:1345363 D RGD:7240710 20230517 OMIM 12349367 ITGB3 integrin subunit beta 3 gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1345363 D RGD:9068941 20200609 RGD associated with Behcet Syndrome; DNA:polymorphism: : PMID:21813062|REF_RGD_ID:8693342 12349367 ITGB3 integrin subunit beta 3 gene DOID:9004009 Reperfusion Injury ISO RGD:628868 D RGD:9068941 20200609 RGD PMID:11705748|REF_RGD_ID:2316361 12349367 ITGB3 integrin subunit beta 3 gene DOID:9005175 Ulcer susceptibility ISO RGD:1345363 D RGD:9068941 20200609 RGD associated with Behcet Syndrome; DNA:polymorphism: : PMID:21813062|REF_RGD_ID:8693342 12349367 ITGB3 integrin subunit beta 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:628868 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland: PMID:22022542|REF_RGD_ID:8693386 12349367 ITGB3 integrin subunit beta 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628868 D RGD:9068941 20200609 RGD protein:increased expression:aorta: PMID:12606526|REF_RGD_ID:8693385 12349367 ITGB3 integrin subunit beta 3 gene DOID:9005876 Thrombocytopenic Purpura ISO RGD:1345363 D RGD:9068941 20200609 RGD associated with HIV Infections PMID:8565280|REF_RGD_ID:10755471 12349367 ITGB3 integrin subunit beta 3 gene DOID:9005876 Thrombocytopenic Purpura ISO RGD:737483 D RGD:9068941 20200609 RGD PMID:11493456|REF_RGD_ID:2316362 12349367 ITGB3 integrin subunit beta 3 gene DOID:9005930 Endotoxemia ISO RGD:628868 D RGD:9068941 20200609 RGD PMID:15280099|REF_RGD_ID:2316360 12349367 ITGB3 integrin subunit beta 3 gene DOID:9006182 Carotid Artery Injuries ISO RGD:628868 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery PMID:17868879|REF_RGD_ID:4892652 12349367 ITGB3 integrin subunit beta 3 gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:628868 D RGD:9068941 20200609 RGD neointima PMID:16793666|REF_RGD_ID:4990460 12349367 ITGB3 integrin subunit beta 3 gene DOID:9007096 Stroke ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9445356 12349367 ITGB3 integrin subunit beta 3 gene DOID:9007096 Stroke ISO RGD:1345363 D RGD:9068941 20200609 RGD associated with hypertension; DNA:polymorphism:exon PMID:20846430|REF_RGD_ID:5128476 12349367 ITGB3 integrin subunit beta 3 gene DOID:9007096 Stroke ISO RGD:628868 D RGD:9068941 20200609 RGD PMID:15678115|REF_RGD_ID:2316358 12349367 ITGB3 integrin subunit beta 3 gene DOID:9007265 Hip Fractures ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17264806 12349367 ITGB3 integrin subunit beta 3 gene DOID:9007402 Gliosis ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12851778 12349367 ITGB3 integrin subunit beta 3 gene DOID:9007533 Hantavirus Infections ISO RGD:737483 D RGD:9068941 20200609 RGD PMID:15886525|REF_RGD_ID:6907410 12349367 ITGB3 integrin subunit beta 3 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1345363 D RGD:9068941 20200609 RGD associated with arteriosclerosis; DNA:polymorphism:exon PMID:20846430|REF_RGD_ID:5128476 12349367 ITGB3 integrin subunit beta 3 gene DOID:9008217 Hemorrhage ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16153930 12349367 ITGB3 integrin subunit beta 3 gene DOID:9008438 Glanzmann Thrombasthenia 2 ISO RGD:1345363 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glanzmann thrombasthenia 2 PMID:11806996|PMID:1371279|PMID:1438206|PMID:15583747|PMID:1602006|PMID:16199547|PMID:16463284|PMID:20020534|PMID:2014236|PMID:21917754|PMID:2392682|PMID:2428841|PMID:25539746|PMID:25728920|PMID:25741868|PMID:28492532|PMID:28983057|PMID:30138987|PMID:30828542|PMID:32757236|PMID:34355501|PMID:8080992|PMID:8471765|PMID:8781422|PMID:9160670|PMID:9215749|PMID:9351872|PMID:9376589|PMID:9845537 12349367 ITGB3 integrin subunit beta 3 gene DOID:9008438 Glanzmann Thrombasthenia 2 susceptibility ISO RGD:1345363 D RGD:7240710 20230517 OMIM 12349367 ITGB3 integrin subunit beta 3 gene DOID:9119 acute myeloid leukemia ISO RGD:737483 D RGD:9068941 20200609 RGD PMID:23770013|REF_RGD_ID:10755448 12349367 ITGB3 integrin subunit beta 3 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1345363 D RGD:9068941 20200609 RGD PMID:23770013|REF_RGD_ID:10755448 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:735947 D RGD:9068941 20200609 RGD PMID:21309737|REF_RGD_ID:5147438 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:0050200 Korean hemorrhagic fever treatment ISO RGD:2895 D RGD:9068941 20200910 RGD PMID:17878294|REF_RGD_ID:2325989 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:0050589 inflammatory bowel disease ISO RGD:735948 D RGD:9068941 20220825 MouseDO 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:0050908 myelodysplastic syndrome ISO RGD:735947 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myelodysplasia PMID:25741868|PMID:28492532 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:735947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:0080600 COVID-19 ISO RGD:735947 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:32026671|PMID:32161940 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:0080600 COVID-19 severity ISO RGD:735947 D RGD:9068941 20200723 RGD protein:increased expression:serum (human) PMID:32164089|PMID:32297828|PMID:32365221|REF_RGD_ID:30310229|REF_RGD_ID:32716368|REF_RGD_ID:36049814 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:0110749 type 1 diabetes mellitus 10 ISO RGD:735947 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 10 PMID:17576681|PMID:17676041|PMID:25741868|PMID:28492532|PMID:9536098 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:0110749 type 1 diabetes mellitus 10 susceptibility ISO RGD:735947 D RGD:7240710 20230505 OMIM 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:0111968 immunodeficiency 41 ISO RGD:735947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency PMID:16199547|PMID:17196245|PMID:17576681|PMID:23261300|PMID:23416241|PMID:24033266|PMID:24116927|PMID:25741868|PMID:28492532|PMID:9096364|PMID:9536098 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:0111968 immunodeficiency 41 susceptibility ISO RGD:735947 D RGD:7240710 20230505 OMIM 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:10322 berylliosis ISO RGD:735947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8977230 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:10325 silicosis ISO RGD:735948 D RGD:9068941 20200609 RGD PMID:21072213|REF_RGD_ID:4891500 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome ISO RGD:735947 D RGD:9068941 20200609 RGD protein:increased expression:T cell PMID:21436245|REF_RGD_ID:5147436 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:735948 D RGD:9068941 20200609 RGD PMID:20639494|REF_RGD_ID:5147443 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:12894 Sjogren's syndrome ISO RGD:735948 D RGD:9068941 20220825 MouseDO OMIM:270150 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:1790 malignant mesothelioma ISO RGD:735947 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:2377 multiple sclerosis ISO RGD:735947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17660530|PMID:19119414|PMID:19525955|PMID:24076602 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:2377 multiple sclerosis ISO RGD:735947 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:19125193|REF_RGD_ID:2311526 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:2841 asthma ISO RGD:2895 D RGD:9068941 20200609 RGD PMID:17351063|REF_RGD_ID:2325990 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:2841 asthma ISO RGD:735948 D RGD:9068941 20200609 RGD PMID:20525707|PMID:21377197|REF_RGD_ID:5147437|REF_RGD_ID:5147445 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:2921 glomerulonephritis ISO RGD:735947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10910440 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:3042 allergic contact dermatitis ISO RGD:735947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:5419 schizophrenia ISO RGD:735947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:614 lymphopenia ISO RGD:735947 D RGD:9068941 20200609 RGD IL2RA/CD25 Deficiency, OMIM:606367 DNA:deletion, frameshift:CDS:4 bp deletion, nucleotides 60-64 PMID:9096364|REF_RGD_ID:1600117 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:630 genetic disease ISO RGD:735947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:7148 rheumatoid arthritis ISO RGD:735947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:20476861|PMID:23143596 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:8778 Crohn's disease ISO RGD:735947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:9002457 Experimental Arthritis ISO RGD:2895 D RGD:9068941 20200609 RGD PMID:17928458|REF_RGD_ID:2325988 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2895 D RGD:9068941 20200609 RGD PMID:19269041|REF_RGD_ID:2311529 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2895 D RGD:9068941 20200609 RGD PMID:18503494|REF_RGD_ID:2311530 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:2895 D RGD:9068941 20200609 RGD PMID:18250419|REF_RGD_ID:2325986 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:9351 diabetes mellitus ISO RGD:2895 D RGD:9068941 20200609 RGD PMID:18503494|REF_RGD_ID:2311530 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:735947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17676041|PMID:19119414|PMID:19701192|PMID:30224649 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:735947 D RGD:9068941 20200609 RGD DNA:SNPs PMID:19119414|REF_RGD_ID:2311527 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:735947 D RGD:9068941 20200609 RGD DNA:SNPs PMID:19106270|REF_RGD_ID:2311528 12349396 IL2RA interleukin 2 receptor subunit alpha gene DOID:986 alopecia areata ISO RGD:735947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20596022 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0001816 angiosarcoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angiosarcoma PMID:24740626|PMID:25157968|PMID:25808193|PMID:8456858 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1350859 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18594010|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22722830|PMID:22734028|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23325582|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:25044103|PMID:25157968|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26242988|PMID:26372703|PMID:26521233|PMID:26623049|PMID:28492532|PMID:29298116|PMID:30443000|PMID:3122217|PMID:31891627|PMID:32581362|PMID:3627975|PMID:7773929|PMID:8439212 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0050469 Costello syndrome ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468812|PMID:17703371 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0050700 cardiomyopathy no_association ISO RGD:1550157 D RGD:9068941 20200609 RGD PMID:24259500|REF_RGD_ID:11568677 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0050855 renal fibrosis treatment ISO RGD:2981 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:22074740|REF_RGD_ID:11060152 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0050868 hepatocellular adenoma induced ISO RGD:2981 D RGD:9068941 20200609 RGD aflatoxin B1 induced:DNA:transversion,transition mutations:cds: PMID:8446626|REF_RGD_ID:11568697 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0050908 myelodysplastic syndrome ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27992414 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0060058 lymphoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9205081 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:1350859 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome PMID:16474404|PMID:16474405|PMID:16987887|PMID:17056636|PMID:17704260|PMID:17875937|PMID:18958496|PMID:19020799|PMID:19396835|PMID:20186801|PMID:20949621|PMID:21686179|PMID:21784453|PMID:21797849|PMID:23059812|PMID:23885229|PMID:24033266|PMID:24803665|PMID:25359213|PMID:25741868|PMID:26242988|PMID:27763634|PMID:28492532|PMID:28650561|PMID:29493581|PMID:29517769|PMID:8234268 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0060581 Noonan syndrome 3 ISO RGD:1350859 D RGD:7240710 20180130 OMIM 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0060581 Noonan syndrome 3 ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:10590419|PMID:10681080|PMID:12110640|PMID:14982869|PMID:16474404|PMID:16474405|PMID:16773572|PMID:16921267|PMID:16987887|PMID:17056636|PMID:17211612|PMID:17324647|PMID:17409930|PMID:17468812|PMID:17551339|PMID:17704260|PMID:17875937|PMID:17875939|PMID:17994553|PMID:18386799|PMID:18456719|PMID:18509354|PMID:18628094|PMID:18958496|PMID:19020799|PMID:19396835|PMID:20112233|PMID:20186801|PMID:20652921|PMID:20949621|PMID:21062266|PMID:21686179|PMID:21779504|PMID:21784453|PMID:21871821|PMID:21909114|PMID:22211815|PMID:22250184|PMID:23321623|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24703799|PMID:24803665|PMID:25326635|PMID:25326637|PMID:25359213|PMID:25741868|PMID:26242988|PMID:26822237|PMID:28492532|PMID:28650561|PMID:29402968|PMID:29493581|PMID:29948256|PMID:30415384|PMID:30732632|PMID:31160609|PMID:32078254|PMID:33452774|PMID:8246952 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1350859 D RGD:7240710 20190315 OMIM 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20949621|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24803665|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:26372703|PMID:28492532|PMID:29298116|PMID:29948256|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0070004 myeloid neoplasm ISO RGD:1550157 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.G12D (mouse) PMID:21451123|REF_RGD_ID:11060138 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:12460918|PMID:15696205|PMID:16361624|PMID:16618717|PMID:17384584|PMID:17704260|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22722830|PMID:23182985|PMID:23406027|PMID:25157968|PMID:26242988|PMID:28492532|PMID:6695174 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0080365 endometrial hyperplasia ISO RGD:1350859 D RGD:9068941 20200609 RGD PMID:19419940|REF_RGD_ID:2314912 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0080690 RASopathy ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies PMID:12110640|PMID:12460918|PMID:14982869|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16474404|PMID:16474405|PMID:16618717|PMID:16773572|PMID:16921267|PMID:16987887|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17468812|PMID:17551339|PMID:17601930|PMID:17704260|PMID:17875937|PMID:17875939|PMID:17910045|PMID:18316791|PMID:18386799|PMID:18456719|PMID:18509354|PMID:18594010|PMID:18628094|PMID:18794081|PMID:18922928|PMID:18958496|PMID:19018267|PMID:19020799|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19396835|PMID:19679400|PMID:19773371|PMID:20112233|PMID:20147967|PMID:20526288|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20926413|PMID:20949522|PMID:20949621|PMID:20978259|PMID:21062266|PMID:21063026|PMID:21079152|PMID:21228335|PMID:21398618|PMID:21686179|PMID:21784453|PMID:21871821|PMID:21909114|PMID:21975775|PMID:22025163|PMID:22211815|PMID:22392911|PMID:22407852|PMID:22488932|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22734028|PMID:2278970|PMID:22980975|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23321623|PMID:23406027|PMID:23531339|PMID:23548132|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24382853|PMID:24558511|PMID:24703799|PMID:24720724|PMID:24803665|PMID:25044103|PMID:25157968|PMID:25251940|PMID:25326635|PMID:25326637|PMID:25359213|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26242988|PMID:26521233|PMID:26580448|PMID:26623049|PMID:26822237|PMID:26970110|PMID:26985062|PMID:27450488|PMID:28492532|PMID:28583095|PMID:28650561|PMID:29298116|PMID:29402968|PMID:29493581|PMID:29948256|PMID:30289595|PMID:30443000|PMID:30732632|PMID:30891959|PMID:31117243|PMID:3122217|PMID:31891627|PMID:32078254|PMID:33452774|PMID:3627975|PMID:7773929|PMID:7877967|PMID:8234268|PMID:8246952|PMID:8439212 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0080690 RASopathy ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16474404|PMID:16474405|PMID:16618717|PMID:16773572|PMID:16921267|PMID:16987887|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17468812|PMID:17551339|PMID:17576681|PMID:17704260|PMID:17875937|PMID:17875939|PMID:17910045|PMID:18316791|PMID:18386799|PMID:18456719|PMID:18509354|PMID:18594010|PMID:18628094|PMID:18794081|PMID:18922928|PMID:18958496|PMID:19018267|PMID:19020799|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19396835|PMID:19679400|PMID:19773371|PMID:20112233|PMID:20147967|PMID:20186801|PMID:20526288|PMID:20570890|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20926413|PMID:20949522|PMID:20949621|PMID:20972464|PMID:20978259|PMID:21062266|PMID:21063026|PMID:21079152|PMID:21228335|PMID:21398618|PMID:21686179|PMID:21784453|PMID:21871821|PMID:21909114|PMID:21975775|PMID:22025163|PMID:22211815|PMID:22392911|PMID:22407852|PMID:22488932|PMID:22495831|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22722830|PMID:22734028|PMID:2278970|PMID:22980975|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23321623|PMID:23325582|PMID:23406027|PMID:23531339|PMID:23548132|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24382853|PMID:24558511|PMID:24703799|PMID:24720724|PMID:24803665|PMID:24836576|PMID:25044103|PMID:25157968|PMID:25251940|PMID:25326635|PMID:25326637|PMID:25359213|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26110767|PMID:26242988|PMID:26521233|PMID:26623049|PMID:26822237|PMID:26970110|PMID:28492532|PMID:28583095|PMID:28650561|PMID:29298116|PMID:29402968|PMID:29493581|PMID:29758562|PMID:29948256|PMID:30289595|PMID:30443000|PMID:30448735|PMID:30732632|PMID:30891959|PMID:31117243|PMID:3122217|PMID:31891627|PMID:32078254|PMID:32581362|PMID:32934698|PMID:33452774|PMID:3627975|PMID:6695174|PMID:7773929|PMID:8234268|PMID:8246952|PMID:8439212|PMID:9536098 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:12110640|PMID:14982869|PMID:17056636|PMID:17324647|PMID:18628094|PMID:20652921|PMID:20949621|PMID:24033266|PMID:24803665|PMID:25741868|PMID:28492532|PMID:29948256 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:1350859 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:18316791|PMID:19018267|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20921462|PMID:20921465|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22235099|PMID:22407852|PMID:22683711|PMID:2278970|PMID:22897852|PMID:23096712|PMID:23406027|PMID:24033266|PMID:25157968|PMID:26372703|PMID:29298116|PMID:3122217|PMID:31891627|PMID:8439212 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0110117 autoimmune lymphoproliferative syndrome type 4 ISO RGD:1350859 D RGD:7240710 20180130 OMIM 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0110117 autoimmune lymphoproliferative syndrome type 4 ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 4 | ClinVar Annotator: match by term: RAS-associated autoimmune leukoproliferative disorder PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20949621|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22734028|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:24803665|PMID:25044103|PMID:25157968|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26623049|PMID:28492532|PMID:29298116|PMID:29948256|PMID:30443000|PMID:3122217|PMID:31891627|PMID:3627975|PMID:7773929|PMID:8439212 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0111162 epidermal nevus ISO RGD:1350859 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC | ClinVar Annotator: match by term: Nevus sebaceous PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22734028|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:25044103|PMID:25157968|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26372703|PMID:26623049|PMID:28492532|PMID:29298116|PMID:30443000|PMID:3122217|PMID:31891627|PMID:3627975|PMID:7773929|PMID:8439212 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0111460 cardiofaciocutaneous syndrome 1 ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 PMID:17056636|PMID:18958496|PMID:21784453|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8234268 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0111461 cardiofaciocutaneous syndrome 2 ISO RGD:1350859 D RGD:7240710 20180130 OMIM 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0111461 cardiofaciocutaneous syndrome 2 ISO RGD:1350859 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 2 PMID:12110640|PMID:14982869|PMID:16474404|PMID:16474405|PMID:16773572|PMID:17056636|PMID:17324647|PMID:17409930|PMID:17551339|PMID:17875937|PMID:17875939|PMID:18386799|PMID:18456719|PMID:18628094|PMID:19396835|PMID:20652921|PMID:20949621|PMID:21062266|PMID:21797849|PMID:21871821|PMID:23059812|PMID:24033266|PMID:24703799|PMID:24803665|PMID:25326637|PMID:25741868|PMID:26037647|PMID:26242988|PMID:28492532|PMID:28650561|PMID:29493581|PMID:29948256|PMID:30732632|PMID:8246952 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:1350859 D RGD:7240710 20180130 OMIM 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Linear nevus sebaceous PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20949621|PMID:21079152|PMID:21228335|PMID:21975775|PMID:22025163|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24803665|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:28492532|PMID:29298116|PMID:29948256|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0111705 oculoectodermal syndrome ISO RGD:1350859 D RGD:7240710 20190918 OMIM 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:0111705 oculoectodermal syndrome ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aplasia cutis congenita with epibulbar dermoids | ClinVar Annotator: match by term: OCULOECTODERMAL SYNDROME, SOMATIC | ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome PMID:12110640|PMID:12460918|PMID:14982869|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20147967|PMID:20570890|PMID:20652921|PMID:20921462|PMID:20921465|PMID:20949621|PMID:20978259|PMID:21063026|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22392911|PMID:22407852|PMID:22571758|PMID:22734028|PMID:2278970|PMID:23182985|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:24740626|PMID:24803665|PMID:24836576|PMID:25157968|PMID:25251940|PMID:2547513|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26110767|PMID:26623049|PMID:26970110|PMID:28492532|PMID:29948256|PMID:30289595|PMID:30448735|PMID:30891959|PMID:3122217|PMID:32934698|PMID:3627975|PMID:8456858 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:10283 prostate cancer ISO RGD:1550157 D RGD:9068941 20220825 MouseDO OMIM:176807 | OMIM:300147 | OMIM:300704 | OMIM:601518 | OMIM:602759 | OMIM:608656 | OMIM:608658 | OMIM:609299 | OMIM:609558 | OMIM:610321 | OMIM:610997 | OMIM:611100 | OMIM:611868 | OMIM:611928 | OMIM:611955 | OMIM:611958 | OMIM:611959 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:3122217 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:10534 stomach cancer ISO RGD:1350859 D RGD:7240710 20220209 OMIM 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:10534 stomach cancer ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18456719|PMID:18594010|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20949621|PMID:21079152|PMID:21228335|PMID:21975775|PMID:22025163|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24803665|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:26242988|PMID:26521233|PMID:28492532|PMID:29298116|PMID:29948256|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:1059 intellectual disability ISO RGD:1350859 D RGD:9068941 20200609 RGD Costello syndrome, OMIM:218040 DNA:transversion:CDS:heterozygous 15A>T, amino acid K5N PMID:17056636|REF_RGD_ID:1600477 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:10763 hypertension ISO RGD:1550157 D RGD:9068941 20200609 RGD PMID:15864294|REF_RGD_ID:1581757 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:11054 urinary bladder cancer ISO RGD:1350859 D RGD:7240710 20180130 OMIM 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:11054 urinary bladder cancer ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Bladder cancer, transitional cell, somatic PMID:12110640|PMID:12460918|PMID:14982869|PMID:1553789|PMID:15696205|PMID:16361624|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17384584|PMID:17409930|PMID:17704260|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20652921|PMID:20921462|PMID:20921465|PMID:20949621|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22722830|PMID:23182985|PMID:23406027|PMID:24033266|PMID:24803665|PMID:25157968|PMID:25741868|PMID:26242988|PMID:28492532|PMID:29948256|PMID:6695174 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:1107 esophageal carcinoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:16361624|PMID:16618717|PMID:18316791|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:26619011|PMID:30891959 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:12930 dilated cardiomyopathy ISO RGD:1550157 D RGD:9068941 20200609 RGD PMID:15864294|REF_RGD_ID:1581757 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:1324 lung cancer ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:12110640|PMID:12460918|PMID:14982869|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17409930|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20652921|PMID:20921462|PMID:20921465|PMID:20949621|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:24033266|PMID:24803665|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29948256|PMID:3122217 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:14566 disease of cellular proliferation ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10673434|PMID:26595770 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:1612 breast cancer ISO RGD:1350859 D RGD:7240710 20180711 OMIM 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:1612 breast cancer ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:20978259|PMID:21063026|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22392911|PMID:22407852|PMID:22571758|PMID:22734028|PMID:2278970|PMID:23182985|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:25157968|PMID:2547513|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26623049|PMID:28492532|PMID:3122217|PMID:3627975 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:1749 squamous cell carcinoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19435901|PMID:25125259 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:1793 pancreatic cancer ISO RGD:1350859 D RGD:7240710 20180130 OMIM 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1350859 D RGD:9068941 20200609 RGD PMID:11115351|REF_RGD_ID:1581761 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:1909 melanoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:30891959|PMID:3122217 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:2355 anemia ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:2671 transitional cell carcinoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:3122217 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:2870 endometrial adenocarcinoma ISO RGD:2981 D RGD:9068941 20200609 RGD DNA:point mutation:CDS:p.G12D, p.G12S, p.Q61H (rat) PMID:10775052|REF_RGD_ID:1600499 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:2871 endometrial carcinoma ISO RGD:1350859 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:11745231|PMID:12460918|PMID:15696205|PMID:16361624|PMID:16474405|PMID:16618717|PMID:16987887|PMID:17056636|PMID:17384584|PMID:17704260|PMID:17875937|PMID:18316791|PMID:18794081|PMID:18958496|PMID:19018267|PMID:19020799|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:20949621|PMID:21228335|PMID:21686179|PMID:21784453|PMID:21975775|PMID:23014527|PMID:23182985|PMID:23406027|PMID:23885229|PMID:24033266|PMID:24803665|PMID:25044103|PMID:25157968|PMID:25359213|PMID:25741868|PMID:28492532|PMID:29493581|PMID:31666701|PMID:35658005|PMID:6320174 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:289 endometriosis ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23284138 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:289 endometriosis ISO RGD:1550157 D RGD:9068941 20220825 MouseDO OMIM:131200 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:299 adenocarcinoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11745231|PMID:16247444|PMID:20101149 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:305 carcinoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10545420|PMID:20565773 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:3068 glioblastoma ISO RGD:1350859 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:19179066|REF_RGD_ID:13702872 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:3068 glioblastoma treatment ISO RGD:1550157 D RGD:9068941 20200609 RGD PMID:16166301|REF_RGD_ID:13702861 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:3069 malignant astrocytoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23817572 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:3069 malignant astrocytoma ISO RGD:1350859 D RGD:9068941 20200609 RGD sporadic pilocytic astrocytoma, OMIM:137800 DNA:transversion:CDS:amino acid G13R PMID:16247081|REF_RGD_ID:1600476 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:3069 malignant astrocytoma susceptibility ISO RGD:11440 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.G12D(mouse) PMID:24038521|REF_RGD_ID:13702858 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:3070 high grade glioma severity ISO RGD:1350859 D RGD:9068941 20200609 RGD PMID:22207524|REF_RGD_ID:13702477 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:3070 high grade glioma severity ISO RGD:1550157 D RGD:9068941 20200609 RGD PMID:19435821|REF_RGD_ID:13702860 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:3078 anaplastic astrocytoma ISO RGD:1350859 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:19179066|REF_RGD_ID:13702872 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:3121 gallbladder cancer ISO RGD:1350859 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Gallbladder cancer PMID:11745231|PMID:12460918|PMID:15696205|PMID:16361624|PMID:16618717|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:23014527|PMID:23182985|PMID:23406027|PMID:25044103|PMID:25157968|PMID:31666701|PMID:35658005|PMID:6320174 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:3307 teratoma ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:3458 breast adenocarcinoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast adenocarcinoma, somatic PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:20978259|PMID:21063026|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22392911|PMID:22407852|PMID:22571758|PMID:22734028|PMID:2278970|PMID:23182985|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:25157968|PMID:2547513|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26623049|PMID:28492532|PMID:3122217|PMID:3627975 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:3490 Noonan syndrome ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:10590419|PMID:10681080|PMID:12110640|PMID:12460918|PMID:14982869|PMID:16361624|PMID:16474404|PMID:16474405|PMID:16618717|PMID:16773572|PMID:16921267|PMID:16987887|PMID:17056636|PMID:17211612|PMID:17324647|PMID:17384584|PMID:17468812|PMID:17551339|PMID:17601930|PMID:17704260|PMID:17875937|PMID:17875939|PMID:17994553|PMID:18316791|PMID:18386799|PMID:18456719|PMID:18509354|PMID:18628094|PMID:18794081|PMID:18922928|PMID:18958496|PMID:19020799|PMID:19114683|PMID:19255327|PMID:19396835|PMID:19679400|PMID:19773371|PMID:20112233|PMID:20186801|PMID:20526288|PMID:20652921|PMID:20921462|PMID:20921465|PMID:20926413|PMID:20949621|PMID:21062266|PMID:21228335|PMID:21686179|PMID:21779504|PMID:21784453|PMID:21871821|PMID:21909114|PMID:22211815|PMID:22250184|PMID:22488932|PMID:22495831|PMID:22980975|PMID:23321623|PMID:23406027|PMID:23531339|PMID:23548132|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24382853|PMID:24703799|PMID:24803665|PMID:25157968|PMID:25326637|PMID:25359213|PMID:25741868|PMID:26037647|PMID:26242988|PMID:28492532|PMID:28650561|PMID:29402968|PMID:29493581|PMID:29758562|PMID:29948256|PMID:30415384|PMID:30732632|PMID:31117243|PMID:32078254|PMID:33452774|PMID:8234268|PMID:8246952 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25347530|PMID:30654191 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:363 uterine cancer ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:3122217 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:3717 gastric adenocarcinoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:30891959|PMID:3122217 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:3883 Lynch syndrome ISO RGD:1350859 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:3905 lung carcinoma ISO RGD:1350859 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:11745231|PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:21079152|PMID:21228335|PMID:21975775|PMID:22025163|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23406027|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:28492532|PMID:29298116|PMID:30443000|PMID:3122217|PMID:31666701|PMID:31891627|PMID:35658005|PMID:6320174|PMID:7773929|PMID:8439212 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:3907 lung squamous cell carcinoma ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17384584|PMID:17704260|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23182985|PMID:23325582|PMID:23406027|PMID:25157968|PMID:26242988|PMID:26619011|PMID:28492532|PMID:3122217|PMID:6695174 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer | ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:11745231|PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16247081|PMID:16361624|PMID:16434492|PMID:16474404|PMID:16618717|PMID:17062680|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18594010|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19396835|PMID:19679400|PMID:19773371|PMID:19794967|PMID:19881948|PMID:20526288|PMID:20609353|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20926413|PMID:20949522|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22282465|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22722830|PMID:22734028|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23325582|PMID:23406027|PMID:23548132|PMID:24033266|PMID:24382853|PMID:24558511|PMID:24628546|PMID:24720724|PMID:24836576|PMID:25044103|PMID:25157968|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26242988|PMID:26372703|PMID:26521233|PMID:26619011|PMID:26623049|PMID:26970110|PMID:28492532|PMID:29298116|PMID:30443000|PMID:30448735|PMID:30732632|PMID:30891959|PMID:3122217|PMID:31666701|PMID:31891627|PMID:32581362|PMID:35658005|PMID:3627975|PMID:6320174|PMID:6695174|PMID:7773929|PMID:8439212 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:11745231|PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23014527|PMID:23182985|PMID:23325582|PMID:23406027|PMID:25044103|PMID:25157968|PMID:26619011|PMID:3122217|PMID:31666701|PMID:6320174 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:1350859 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:11745231|PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23014527|PMID:23182985|PMID:23325582|PMID:23406027|PMID:25044103|PMID:25157968|PMID:26619011|PMID:3122217|PMID:31666701|PMID:35658005|PMID:6320174 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:3962 thyroid gland follicular carcinoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27440272 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:3973 thyroid gland medullary carcinoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medullary thyroid gland carcinoma PMID:12460918|PMID:15696205|PMID:16361624|PMID:16618717|PMID:17062680|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:21228335|PMID:23406027|PMID:24033266|PMID:25157968 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:3122217 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:4440 seminoma ISO RGD:1350859 D RGD:9068941 20200609 RGD PMID:8816895|REF_RGD_ID:2314915 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:4450 renal cell carcinoma ISO RGD:1350859 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:11851621|REF_RGD_ID:2314914 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:4851 pilocytic astrocytoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic PMID:12460918|PMID:15696205|PMID:16247081|PMID:16361624|PMID:16618717|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:21228335|PMID:23406027|PMID:24033266|PMID:25157968 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:4905 pancreatic carcinoma ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20949621|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24803665|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:26372703|PMID:28492532|PMID:29298116|PMID:29948256|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:1550157 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:26059825|REF_RGD_ID:11075076 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:2981 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:26059825|REF_RGD_ID:11075076 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:4927 Klatskin's tumor disease_progression ISO RGD:1350859 D RGD:9068941 20210430 RGD DNA:mutations PMID:33387086|REF_RGD_ID:126848756 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:1550157 D RGD:9068941 20220825 MouseDO 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1350859 D RGD:9068941 20200609 RGD DNA:mutations:: PMID:24139215|REF_RGD_ID:14398746 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:4947 cholangiocarcinoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520|PMID:8968066 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:5517 stomach carcinoma ISO RGD:1350859 D RGD:9068941 20200609 RGD gastric cancer, OMIM:137215 DNA:point_mutation:CDS:amino acid G12S PMID:7773929|REF_RGD_ID:1600468 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1550157 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.G12D (mouse) PMID:23673656|REF_RGD_ID:11060136 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:5744 ovary serous adenocarcinoma ISO RGD:1350859 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary low grade serous adenocarcinoma of ovary PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:21079152|PMID:21228335|PMID:21975775|PMID:22025163|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:28492532|PMID:29298116|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:630 genetic disease ISO RGD:1350859 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16474404|PMID:16474405|PMID:16618717|PMID:16773572|PMID:16987887|PMID:17056636|PMID:17332249|PMID:17384584|PMID:17551339|PMID:17704260|PMID:17875937|PMID:18316791|PMID:18386799|PMID:18456719|PMID:18794081|PMID:18958496|PMID:19018267|PMID:19020799|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19396835|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:20949621|PMID:20978259|PMID:21062266|PMID:21063026|PMID:21228335|PMID:21398618|PMID:21686179|PMID:21784453|PMID:21871821|PMID:21975775|PMID:22392911|PMID:22407852|PMID:22571758|PMID:22734028|PMID:2278970|PMID:23182985|PMID:23406027|PMID:23885229|PMID:24033266|PMID:24356096|PMID:24558511|PMID:24703799|PMID:24720724|PMID:24728327|PMID:24803665|PMID:25157968|PMID:25326637|PMID:25359213|PMID:2547513|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26037647|PMID:26242988|PMID:26623049|PMID:26854235|PMID:28492532|PMID:28650561|PMID:29493581|PMID:3122217|PMID:3627975 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:6536 plasma cell neoplasm ISO RGD:1350859 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17062680|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23182985|PMID:23325582|PMID:23406027|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:30891959|PMID:3122217 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:657 adenoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10545420|PMID:10813127|PMID:25851810|PMID:8761429 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:6726 fibrillary astrocytoma ISO RGD:1350859 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:19179066|REF_RGD_ID:13702872 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:30891959|PMID:3122217 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma induced ISO RGD:2981 D RGD:9068941 20200609 RGD aflatoxin B1 induced:DNA:transversion,transition mutations:cds: PMID:8446626|REF_RGD_ID:11568697 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:7235 pancreatic mucinous cystadenoma severity ISO RGD:1350859 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:28570009|REF_RGD_ID:14398747 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:767 muscular atrophy ISO RGD:2981 D RGD:9068941 20220224 RGD associated with microgravity; mRNA:increased expression:gastrocnemius (rat) PMID:14638460|REF_RGD_ID:151361116 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:769 neuroblastoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:8552 chronic myeloid leukemia ISO RGD:1350859 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:18316791|PMID:19018267|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20921462|PMID:20921465|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22235099|PMID:22407852|PMID:22683711|PMID:2278970|PMID:22897852|PMID:23096712|PMID:23406027|PMID:24033266|PMID:25157968|PMID:26372703|PMID:29298116|PMID:3122217|PMID:31891627|PMID:8439212 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:8567 Hodgkin's lymphoma ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Classic Hodgkin lymphoma PMID:16361624|PMID:16618717|PMID:18316791|PMID:19114683|PMID:19679400|PMID:20147967|PMID:20570890|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21398618|PMID:25157968|PMID:25251940|PMID:26110767|PMID:26970110|PMID:28492532|PMID:30289595|PMID:30891959|PMID:32934698 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:8634 prostate carcinoma in situ ISO RGD:1550157 D RGD:9068941 20200609 RGD PMID:19117991|REF_RGD_ID:2314913 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:8683 myeloid sarcoma ISO RGD:1350859 D RGD:9068941 20200609 RGD associated with Leukemia, Myeloid, Acute;DNA:missense mutation:exon:p.G12C (human) PMID:23564351|REF_RGD_ID:11060142 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:8923 skin melanoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:30891959|PMID:3122217 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9000011 Gallbladder Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24997986 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9000217 Stomach Neoplasms ISO RGD:1350859 D RGD:9068941 20230223 CTD CTD Direct Evidence: marker/mechanism PMID:10874023|PMID:11397402 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9000918 Disease Progression ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30654191 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635384 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1550157 D RGD:9068941 20200609 RGD associated with Fibrosarcoma;mRNA,protein:decreased expression:: PMID:3552201|REF_RGD_ID:11570402 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1350859 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutation: : PMID:29032374|REF_RGD_ID:14398745 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1350859 D RGD:9068941 20200609 RGD associated with colorectal cancer; DNA:mutation:cds: PMID:27264476|REF_RGD_ID:14398751 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1350859 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutations: : PMID:26210240|REF_RGD_ID:11086960 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1350859 D RGD:9068941 20220616 RGD associated with stomach cancer; human cells in mouse model PMID:27431311|REF_RGD_ID:152995400 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9001039 Leukocytosis ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8603461 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:2981 D RGD:9068941 20220707 RGD mRNA:increased expression:liver (rat) PMID:19533683|REF_RGD_ID:2315050 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9002170 Experimental Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10813127|PMID:21311774|PMID:25851810|PMID:26390243|PMID:9205081 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:3122217 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9002265 Kidney Neoplasms ISO RGD:2981 D RGD:9068941 20200609 RGD PMID:9020896|REF_RGD_ID:11570401 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1550157 D RGD:9068941 20200609 RGD PMID:19117991|REF_RGD_ID:2314913 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9002650 Sebaceous Nevus Syndrome and Hemimegalencephaly ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20949621|PMID:21079152|PMID:21228335|PMID:21975775|PMID:22025163|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24803665|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:28492532|PMID:29298116|PMID:29948256|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9002720 Splenomegaly ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1350859 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:11745231|PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18594010|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19794967|PMID:19881948|PMID:20609353|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22282465|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22722830|PMID:22734028|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:25044103|PMID:25157968|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26242988|PMID:26372703|PMID:26521233|PMID:26623049|PMID:28492532|PMID:29298116|PMID:30443000|PMID:3122217|PMID:31666701|PMID:31891627|PMID:35658005|PMID:3627975|PMID:6320174|PMID:6695174|PMID:7773929|PMID:8439212 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9002801 Recurrence ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9002928 Colonic Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10813127|PMID:12800193|PMID:12839936|PMID:17192441|PMID:18372904|PMID:19424582 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9003155 Parasitic Liver Diseases ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9003196 Penile Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18355852 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 RGD DNA:point mutation:exon (human) PMID:14984964|REF_RGD_ID:2314838 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9003571 Paraproteinemias ISO RGD:1350859 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17062680|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23182985|PMID:23325582|PMID:23406027|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:30891959|PMID:3122217 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9003694 Cecal Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14688030 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1350859 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms PMID:19542870|REF_RGD_ID:2314910 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9004268 Uterine Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17325976 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9004547 Thyroid Neoplasms ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:11745231|PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16247081|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17062680|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18594010|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19794967|PMID:19881948|PMID:20526288|PMID:20609353|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22722830|PMID:22734028|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23325582|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24628546|PMID:24720724|PMID:24836576|PMID:25044103|PMID:25157968|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26242988|PMID:26372703|PMID:26521233|PMID:26619011|PMID:26623049|PMID:26970110|PMID:28492532|PMID:29298116|PMID:30443000|PMID:30448735|PMID:30891959|PMID:3122217|PMID:31666701|PMID:31891627|PMID:35658005|PMID:3627975|PMID:6320174|PMID:6695174|PMID:7773929|PMID:8439212 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:1350859 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 PMID:17056636|PMID:17468812|PMID:17704260|PMID:18386799|PMID:20949621|PMID:21909114|PMID:22211815|PMID:24033266|PMID:24037001|PMID:24803665|PMID:25741868|PMID:28492532|PMID:28583095|PMID:29402968|PMID:32078254|PMID:33452774 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9005172 Lung Neoplasms ISO RGD:1350859 D RGD:7240710 20180130 OMIM 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9005474 Experimental Sarcoma ISO RGD:2981 D RGD:9068941 20200609 RGD A to T transversion; Gln to His substitution PMID:11295286|REF_RGD_ID:1598680 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9006205 Animal Disease Models ISO RGD:1350859 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:26390243|PMID:27588471|PMID:33380422 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30654191 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9006827 Lung Reperfusion Injury ameliorates ISO RGD:1550157 D RGD:9068941 20220915 RGD PMID:34238924|REF_RGD_ID:153350155 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9007188 Liver Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10629081|PMID:12211074 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9007364 Mouth Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19435901 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:2981 D RGD:9068941 20200609 RGD PMID:8913708|REF_RGD_ID:11062095 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27510461 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9007632 Encephalocraniocutaneous Lipomatosis ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20147967|PMID:20570890|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22734028|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:24740626|PMID:24836576|PMID:25044103|PMID:25157968|PMID:25251940|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26110767|PMID:26619011|PMID:26623049|PMID:26970110|PMID:28492532|PMID:29298116|PMID:30289595|PMID:30443000|PMID:30448735|PMID:30891959|PMID:3122217|PMID:31891627|PMID:32934698|PMID:3627975|PMID:7773929|PMID:8439212|PMID:8456858 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9007653 Multiple Abnormalities ISO RGD:1350859 D RGD:9068941 20200609 RGD Costello syndrome, OMIM:218040 DNA:transversion:CDS:heterozygous 15A>T, amino acid K5N PMID:17056636|REF_RGD_ID:1600477 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9007702 Carcinogenesis ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26595770|PMID:29247004 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9007715 Endometrial Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 RGD PMID:19960433|REF_RGD_ID:2314907 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9008386 Hydrops Fetalis ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:24549645|PMID:25741868 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:11745231|PMID:12460918|PMID:12720172|PMID:15093544|PMID:1553789|PMID:15696205|PMID:15842656|PMID:16247081|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17062680|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18594010|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19794967|PMID:19881948|PMID:20147967|PMID:20526288|PMID:20570890|PMID:20609353|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22282465|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22722830|PMID:22734028|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23325582|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24628546|PMID:24720724|PMID:24836576|PMID:25044103|PMID:25157968|PMID:25251940|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26110767|PMID:26242988|PMID:26372703|PMID:26521233|PMID:26619011|PMID:26623049|PMID:26970110|PMID:28492532|PMID:29298116|PMID:30289595|PMID:30443000|PMID:30448735|PMID:30891959|PMID:3122217|PMID:31666701|PMID:31891627|PMID:32581362|PMID:32934698|PMID:35658005|PMID:3627975|PMID:6320174|PMID:6695174|PMID:7773929|PMID:8439212 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9008640 Capillary Malformation-Arteriovenous Malformation 1 ISO RGD:1350859 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:21079152|PMID:21228335|PMID:21975775|PMID:22025163|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:28492532|PMID:29298116|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9008939 Breast Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9008939 Breast Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 RGD breast adenocarcinoma cell line, OMIM:114480 DNA:point_mutation:CDS:amino acid G13D PMID:3627975|REF_RGD_ID:1600466 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:12110640|PMID:14645534|PMID:14982869|PMID:16474404|PMID:16474405|PMID:16773572|PMID:17056636|PMID:17324647|PMID:17409930|PMID:17551339|PMID:17875937|PMID:18456719|PMID:18628094|PMID:20652921|PMID:20949621|PMID:21062266|PMID:21871821|PMID:22495831|PMID:24033266|PMID:24703799|PMID:24803665|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28583095|PMID:29948256|PMID:31117243|PMID:9362444 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:12110640|PMID:12460918|PMID:14982869|PMID:15696205|PMID:16361624|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17384584|PMID:17409930|PMID:17704260|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20652921|PMID:20921462|PMID:20921465|PMID:20949621|PMID:21228335|PMID:21975775|PMID:22722830|PMID:23182985|PMID:23406027|PMID:24033266|PMID:24803665|PMID:25157968|PMID:25741868|PMID:26242988|PMID:28492532|PMID:29948256|PMID:6695174 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:1350859 D RGD:7240710 20180130 OMIM 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20949621|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22722830|PMID:22734028|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23325582|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:24803665|PMID:25044103|PMID:25157968|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26372703|PMID:26619011|PMID:26623049|PMID:28492532|PMID:29298116|PMID:29948256|PMID:30443000|PMID:3122217|PMID:31891627|PMID:32581362|PMID:3627975|PMID:7773929|PMID:8439212|PMID:8955068 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma PMID:12460918|PMID:15696205|PMID:16361624|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19114683|PMID:19679400|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:23182985|PMID:25157968 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9256 colorectal cancer disease_progression ISO RGD:1350859 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.GLY12ASP,GLY12Val,GLY13ALA,GLY13ASP(human) PMID:22971512|REF_RGD_ID:14398748 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9538 multiple myeloma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17062680|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23182985|PMID:23325582|PMID:23406027|PMID:24033266|PMID:25157968|PMID:26619011|PMID:28492532|PMID:30891959|PMID:3122217 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9538 multiple myeloma ISO RGD:1350859 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17062680|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23182985|PMID:23325582|PMID:23406027|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:30891959|PMID:3122217 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1350859 D RGD:9068941 20200609 RGD PMID:17910045|REF_RGD_ID:11060148 12349413 KRAS KRAS proto-oncogene, GTPase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:1350859 D RGD:9068941 20200609 RGD PMID:25917266|REF_RGD_ID:11060149 12349424 LOC403934 cell division cycle 42 gene DOID:0060369 Parkinson's disease 6 ISO RGD:730976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12349424 LOC403934 cell division cycle 42 gene DOID:0060775 microvillus inclusion disease ISO RGD:730977 D RGD:9068941 20220825 MouseDO OMIM:251850 12349424 LOC403934 cell division cycle 42 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:730976 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12349424 LOC403934 cell division cycle 42 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:730976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12349424 LOC403934 cell division cycle 42 gene DOID:10652 Alzheimer's disease ISO RGD:730976 D RGD:9068941 20200609 RGD PMID:10817927|REF_RGD_ID:5688277 12349424 LOC403934 cell division cycle 42 gene DOID:1793 pancreatic cancer severity ISO RGD:730976 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas (human) PMID:28181096|REF_RGD_ID:13452244 12349424 LOC403934 cell division cycle 42 gene DOID:305 carcinoma ISO RGD:730976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12349424 LOC403934 cell division cycle 42 gene DOID:3312 bipolar disorder ISO RGD:730976 D RGD:9068941 20200609 RGD PMID:18391128|REF_RGD_ID:5688274 12349424 LOC403934 cell division cycle 42 gene DOID:3328 temporal lobe epilepsy ISO RGD:71043 D RGD:9068941 20200609 RGD PMID:19700661|REF_RGD_ID:5688272 12349424 LOC403934 cell division cycle 42 gene DOID:3355 fibrosarcoma ISO RGD:730976 D RGD:9068941 20200609 RGD PMID:17971488|REF_RGD_ID:5688275 12349424 LOC403934 cell division cycle 42 gene DOID:4483 rhinitis ISO RGD:730976 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal turbinate PMID:19432938|REF_RGD_ID:5688273 12349424 LOC403934 cell division cycle 42 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:730976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12349424 LOC403934 cell division cycle 42 gene DOID:630 genetic disease ISO RGD:730976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26386261|PMID:26708094|PMID:26795593|PMID:27513193|PMID:28991257|PMID:29335451|PMID:29394990|PMID:33936654 12349424 LOC403934 cell division cycle 42 gene DOID:674 cleft palate ISO RGD:730977 D RGD:9068941 20220922 MouseDO 12349424 LOC403934 cell division cycle 42 gene DOID:9000039 Spinal Cord Injuries ISO RGD:71043 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:15736231|REF_RGD_ID:5688276 12349424 LOC403934 cell division cycle 42 gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:730976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747643 12349424 LOC403934 cell division cycle 42 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:730976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12349424 LOC403934 cell division cycle 42 gene DOID:9002457 Experimental Arthritis ISO RGD:730977 D RGD:9068941 20200609 RGD protein:increased activation:bone marrow, macrophage PMID:21266780|REF_RGD_ID:5688271 12349424 LOC403934 cell division cycle 42 gene DOID:9003091 Noonan Like Syndrome ISO RGD:730976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan-like syndrome PMID:25741868|PMID:29394990 12349424 LOC403934 cell division cycle 42 gene DOID:9004009 Reperfusion Injury ISO RGD:71043 D RGD:9068941 20200609 RGD protein:increased activation:hippocampus CA1 PMID:17161586|REF_RGD_ID:2298583 12349424 LOC403934 cell division cycle 42 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26386261|PMID:26708094|PMID:26795593|PMID:27513193|PMID:28492532|PMID:28991257|PMID:29335451|PMID:29394990|PMID:33936654 12349424 LOC403934 cell division cycle 42 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12349424 LOC403934 cell division cycle 42 gene DOID:9005749 Necrosis ISO RGD:730976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430526 12349424 LOC403934 cell division cycle 42 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:730976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12349424 LOC403934 cell division cycle 42 gene DOID:9006962 Takenouchi-Kosaki Syndrome ISO RGD:730976 D RGD:7240710 20180130 OMIM 12349424 LOC403934 cell division cycle 42 gene DOID:9006962 Takenouchi-Kosaki Syndrome ISO RGD:730976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Takenouchi-Kosaki syndrome PMID:25741868|PMID:26386261|PMID:26708094|PMID:26795593|PMID:27513193|PMID:28492532|PMID:28991257|PMID:29335451|PMID:29394990|PMID:33936654 12349433 SPCS3 signal peptidase complex subunit 3 gene DOID:630 genetic disease ISO RGD:1353202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349433 SPCS3 signal peptidase complex subunit 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12349440 GTPBP1 GTP binding protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1315559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12349440 GTPBP1 GTP binding protein 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1315559 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12349440 GTPBP1 GTP binding protein 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1315559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12349440 GTPBP1 GTP binding protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1315559 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:17576681|PMID:28492532|PMID:9536098 12349440 GTPBP1 GTP binding protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1315559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:17576681|PMID:18570303|PMID:18799783|PMID:22213678|PMID:25210889|PMID:28492532|PMID:9536098 12349440 GTPBP1 GTP binding protein 1 gene DOID:630 genetic disease ISO RGD:1315559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12349471 ERMARD ER membrane associated RNA degradation gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1319689 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12349471 ERMARD ER membrane associated RNA degradation gene DOID:1826 epilepsy ISO RGD:1319689 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12349471 ERMARD ER membrane associated RNA degradation gene DOID:630 genetic disease ISO RGD:1319689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12349471 ERMARD ER membrane associated RNA degradation gene DOID:9004295 Periventricular Nodular Heterotopia 6 ISO RGD:1319689 D RGD:7240710 20180130 OMIM 12349471 ERMARD ER membrane associated RNA degradation gene DOID:9004295 Periventricular Nodular Heterotopia 6 ISO RGD:1319689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 6 PMID:24056535|PMID:25741868|PMID:28492532 12349500 NUP205 nucleoporin 205 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1319746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26878725 12349500 NUP205 nucleoporin 205 gene DOID:0080381 nephrotic syndrome type 13 ISO RGD:1319746 D RGD:7240710 20190315 OMIM 12349500 NUP205 nucleoporin 205 gene DOID:0080381 nephrotic syndrome type 13 ISO RGD:1319746 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 13 PMID:25741868|PMID:26878725|PMID:28492532 12349500 NUP205 nucleoporin 205 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12349500 NUP205 nucleoporin 205 gene DOID:5408 Paget's disease of bone ISO RGD:1319746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21623375 12349500 NUP205 nucleoporin 205 gene DOID:630 genetic disease ISO RGD:1319746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12349500 NUP205 nucleoporin 205 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1319746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12349546 TRIM45 tripartite motif containing 45 gene DOID:630 genetic disease ISO RGD:1319359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349559 AMPH amphiphysin gene DOID:0080600 COVID-19 ISO RGD:733884 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12349559 AMPH amphiphysin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12349559 AMPH amphiphysin gene DOID:630 genetic disease ISO RGD:733884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349584 ACMSD aminocarboxymuconate semialdehyde decarboxylase gene DOID:1074 kidney failure ISO RGD:620868 D RGD:9068941 20200609 RGD PMID:10966936|REF_RGD_ID:13831124 12349584 ACMSD aminocarboxymuconate semialdehyde decarboxylase gene DOID:630 genetic disease ISO RGD:732597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349584 ACMSD aminocarboxymuconate semialdehyde decarboxylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620868 D RGD:9068941 20200609 RGD PMID:19169727|REF_RGD_ID:13831126 12349584 ACMSD aminocarboxymuconate semialdehyde decarboxylase gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:620868 D RGD:9068941 20200609 RGD PMID:12042425|REF_RGD_ID:13831125 12349584 ACMSD aminocarboxymuconate semialdehyde decarboxylase gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:620868 D RGD:9068941 20200609 RGD PMID:16711654|REF_RGD_ID:13831123 12349604 LOC476151 formin-like protein 2 gene DOID:630 genetic disease ISO RGD:1315771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349604 LOC476151 formin-like protein 2 gene DOID:8778 Crohn's disease ISO RGD:1315771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Crohn disease 12349604 LOC476151 formin-like protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315771 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12349628 SMG9 SMG9 nonsense mediated mRNA decay factor gene DOID:0060041 autism spectrum disorder ISO RGD:1606789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12349628 SMG9 SMG9 nonsense mediated mRNA decay factor gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1606789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12349628 SMG9 SMG9 nonsense mediated mRNA decay factor gene DOID:5419 schizophrenia ISO RGD:1606789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12349628 SMG9 SMG9 nonsense mediated mRNA decay factor gene DOID:630 genetic disease ISO RGD:1606789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349628 SMG9 SMG9 nonsense mediated mRNA decay factor gene DOID:684 hepatocellular carcinoma severity ISO RGD:1606789 D RGD:9068941 20230128 RGD PMID:34456727|REF_RGD_ID:155882446 12349628 SMG9 SMG9 nonsense mediated mRNA decay factor gene DOID:9004088 NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES ISO RGD:1606789 D RGD:7240710 20221221 OMIM 12349628 SMG9 SMG9 nonsense mediated mRNA decay factor gene DOID:9004088 NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES ISO RGD:1606789 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies PMID:35087184 12349628 SMG9 SMG9 nonsense mediated mRNA decay factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606789 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:31390136 12349628 SMG9 SMG9 nonsense mediated mRNA decay factor gene DOID:9006295 HEART AND BRAIN MALFORMATION SYNDROME ISO RGD:1606789 D RGD:7240710 20190315 OMIM 12349628 SMG9 SMG9 nonsense mediated mRNA decay factor gene DOID:9006295 HEART AND BRAIN MALFORMATION SYNDROME ISO RGD:1606789 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Heart and brain malformation syndrome PMID:25741868|PMID:27018474|PMID:28492532|PMID:31390136 12349628 SMG9 SMG9 nonsense mediated mRNA decay factor gene DOID:9008086 Developmental Disabilities ISO RGD:1606789 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:27018474 12349662 RSPH14 radial spoke head 14 homolog gene DOID:11198 DiGeorge syndrome ISO RGD:1313725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 12349662 RSPH14 radial spoke head 14 homolog gene DOID:5419 schizophrenia ISO RGD:1313725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12349662 RSPH14 radial spoke head 14 homolog gene DOID:630 genetic disease ISO RGD:1313725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349675 FEM1B fem-1 homolog B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1312083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12349675 FEM1B fem-1 homolog B gene DOID:2717 Bloom syndrome ISO RGD:1312083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12349675 FEM1B fem-1 homolog B gene DOID:630 genetic disease ISO RGD:1312083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349675 FEM1B fem-1 homolog B gene DOID:9256 colorectal cancer ISO RGD:1312083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12349675 FEM1B fem-1 homolog B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1312084 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 12349687 SDAD1 SDA1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1353066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349687 SDAD1 SDA1 domain containing 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1353066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 12349687 SDAD1 SDA1 domain containing 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1353066 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12349712 CDH6 cadherin 6 gene DOID:630 genetic disease ISO RGD:735712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349712 CDH6 cadherin 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12349712 CDH6 cadherin 6 gene DOID:9007346 Cachexia ISO RGD:735712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17878525 12349728 CRCP CGRP receptor component gene DOID:11446 sciatic neuropathy ISO RGD:620753 D RGD:9068941 20200609 RGD PMID:12895509|REF_RGD_ID:727768 12349728 CRCP CGRP receptor component gene DOID:14755 argininosuccinic aciduria ISO RGD:1601760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:28492532 12349728 CRCP CGRP receptor component gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12349728 CRCP CGRP receptor component gene DOID:630 genetic disease ISO RGD:1601760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349728 CRCP CGRP receptor component gene DOID:9002211 Hyperalgesia ISO RGD:620753 D RGD:9068941 20200609 RGD PMID:12895509|REF_RGD_ID:727768 12349743 ARG2 arginase 2 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:732329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 12349743 ARG2 arginase 2 gene DOID:10763 hypertension ISO RGD:2151 D RGD:9068941 20200609 RGD PMID:18475148|REF_RGD_ID:4142834 12349743 ARG2 arginase 2 gene DOID:10763 hypertension ISO RGD:2151 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta (rat) PMID:17223136|REF_RGD_ID:1626296 12349743 ARG2 arginase 2 gene DOID:10763 hypertension ISO RGD:2151 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20039818|REF_RGD_ID:4143278 12349743 ARG2 arginase 2 gene DOID:2841 asthma ISO RGD:732329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19281908 12349743 ARG2 arginase 2 gene DOID:2841 asthma ISO RGD:736823 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:12813022|REF_RGD_ID:4143187 12349743 ARG2 arginase 2 gene DOID:2841 asthma severity ISO RGD:732329 D RGD:9068941 20200609 RGD DNA:SNP: :rs3742879, rs17249437 (human) PMID:20124949|REF_RGD_ID:5129205 12349743 ARG2 arginase 2 gene DOID:2841 asthma susceptibility ISO RGD:732329 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:16387594|REF_RGD_ID:5129207 12349743 ARG2 arginase 2 gene DOID:3021 acute kidney failure ISO RGD:2151 D RGD:9068941 20200609 RGD mRNA:decreased expression:renal tubule (rat) PMID:12371970|REF_RGD_ID:631989 12349743 ARG2 arginase 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:732329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23424623 12349743 ARG2 arginase 2 gene DOID:5199 ureteral obstruction ISO RGD:2151 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, glomerulus (rat) PMID:18552509|REF_RGD_ID:4143282 12349743 ARG2 arginase 2 gene DOID:6000 congestive heart failure ISO RGD:732329 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12349743 ARG2 arginase 2 gene DOID:630 genetic disease ISO RGD:732329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349743 ARG2 arginase 2 gene DOID:6432 pulmonary hypertension ISO RGD:732329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24951775 12349743 ARG2 arginase 2 gene DOID:783 end stage renal disease ISO RGD:2151 D RGD:9068941 20200609 RGD protein:decreased activity:kidney (rat) PMID:16809898|REF_RGD_ID:4110828 12349743 ARG2 arginase 2 gene DOID:8466 retinal degeneration ISO RGD:732329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30618589 12349743 ARG2 arginase 2 gene DOID:9000918 Disease Progression ISO RGD:732329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23424623 12349743 ARG2 arginase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2151 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:11931836|REF_RGD_ID:1626298 12349743 ARG2 arginase 2 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2151 D RGD:9068941 20200609 RGD protein:increased expression:aorta (rat) PMID:20699748|REF_RGD_ID:4143274 12349743 ARG2 arginase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736823 D RGD:9068941 20200609 RGD PMID:21926276|REF_RGD_ID:6902923 12349743 ARG2 arginase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23424623 12349743 ARG2 arginase 2 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:732329 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:16387594|REF_RGD_ID:5129207 12349743 ARG2 arginase 2 gene DOID:9002955 Nerve Degeneration ISO RGD:732329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30618589 12349743 ARG2 arginase 2 gene DOID:9004484 Sepsis ISO RGD:2151 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:9635249|REF_RGD_ID:1626297 12349743 ARG2 arginase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2151 D RGD:9068941 20200609 RGD protein:increased activity:kidney (rat) PMID:12841630|REF_RGD_ID:4143269 12349743 ARG2 arginase 2 gene DOID:9005749 Necrosis ISO RGD:732329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23424623 12349743 ARG2 arginase 2 gene DOID:9007480 Hyperoxia ISO RGD:2151 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:9688940|REF_RGD_ID:4144054 12349743 ARG2 arginase 2 gene DOID:9008091 Optic Nerve Injuries ISO RGD:732329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30618589 12349770 SLC43A3 solute carrier family 43 member 3 gene DOID:0080600 COVID-19 ISO RGD:1323779 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12349770 SLC43A3 solute carrier family 43 member 3 gene DOID:1059 intellectual disability ISO RGD:1323779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12349770 SLC43A3 solute carrier family 43 member 3 gene DOID:2986 IgA glomerulonephritis ISO RGD:1323779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 12349770 SLC43A3 solute carrier family 43 member 3 gene DOID:630 genetic disease ISO RGD:1323779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349787 MRPL23 mitochondrial ribosomal protein L23 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:68481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12349787 MRPL23 mitochondrial ribosomal protein L23 gene DOID:0080773 delta beta-thalassemia ISO RGD:68481 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12349787 MRPL23 mitochondrial ribosomal protein L23 gene DOID:0111969 immunodeficiency 39 ISO RGD:68481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12349787 MRPL23 mitochondrial ribosomal protein L23 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:68481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12349787 MRPL23 mitochondrial ribosomal protein L23 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:68481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12349787 MRPL23 mitochondrial ribosomal protein L23 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:68481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome PMID:18836444 12349787 MRPL23 mitochondrial ribosomal protein L23 gene DOID:630 genetic disease ISO RGD:68481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349787 MRPL23 mitochondrial ribosomal protein L23 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:68481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12349787 MRPL23 mitochondrial ribosomal protein L23 gene DOID:9008576 Wilms Tumor 2 ISO RGD:68481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wilms tumor 2 PMID:18836444 12349796 PTGIR prostaglandin I2 receptor gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1322052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 12349796 PTGIR prostaglandin I2 receptor gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1322052 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 12349796 PTGIR prostaglandin I2 receptor gene DOID:0110644 long QT syndrome 1 ISO RGD:1322052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:28492532 12349796 PTGIR prostaglandin I2 receptor gene DOID:114 heart disease ISO RGD:1322052 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16154102 12349796 PTGIR prostaglandin I2 receptor gene DOID:630 genetic disease ISO RGD:1322052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349802 GRM5 glutamate metabotropic receptor 5 gene DOID:0060041 autism spectrum disorder ISO RGD:730960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12349802 GRM5 glutamate metabotropic receptor 5 gene DOID:1059 intellectual disability ISO RGD:730960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12349802 GRM5 glutamate metabotropic receptor 5 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:730960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19546859|PMID:22138692 12349802 GRM5 glutamate metabotropic receptor 5 gene DOID:12858 Huntington's disease disease_progression ISO RGD:736778 D RGD:9068941 20200609 RGD PMID:15306259|REF_RGD_ID:13432562 12349802 GRM5 glutamate metabotropic receptor 5 gene DOID:12858 Huntington's disease treatment ISO RGD:736778 D RGD:9068941 20200609 RGD PMID:23489026|PMID:24282028|PMID:25160573|REF_RGD_ID:13432158|REF_RGD_ID:13432558|REF_RGD_ID:13432561 12349802 GRM5 glutamate metabotropic receptor 5 gene DOID:1824 status epilepticus ISO RGD:730960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17634364|PMID:18774262 12349802 GRM5 glutamate metabotropic receptor 5 gene DOID:303 substance-related disorder ISO RGD:730960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12349802 GRM5 glutamate metabotropic receptor 5 gene DOID:3328 temporal lobe epilepsy ISO RGD:730960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15694259 12349802 GRM5 glutamate metabotropic receptor 5 gene DOID:5419 schizophrenia ISO RGD:736778 D RGD:9068941 20220825 MouseDO OMIM:181500 12349802 GRM5 glutamate metabotropic receptor 5 gene DOID:630 genetic disease ISO RGD:730960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349802 GRM5 glutamate metabotropic receptor 5 gene DOID:9001957 Keratosis Palmoplantaris with Periodontopathia and Onychogryposis ISO RGD:730960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Haim-Munk syndrome PMID:28492532 12349802 GRM5 glutamate metabotropic receptor 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20826661 12349802 GRM5 glutamate metabotropic receptor 5 gene DOID:9005968 Neuralgia ISO RGD:730960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19840219 12349802 GRM5 glutamate metabotropic receptor 5 gene DOID:9743 diabetic neuropathy ISO RGD:730960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19840219 12349829 SPINT3 serine peptidase inhibitor, Kunitz type 3 gene DOID:2234 focal epilepsy ISO RGD:1353929 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12349829 SPINT3 serine peptidase inhibitor, Kunitz type 3 gene DOID:630 genetic disease ISO RGD:1353929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349829 SPINT3 serine peptidase inhibitor, Kunitz type 3 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1353929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12349839 TAPBPL TAP binding protein like gene DOID:0050772 spastic ataxia 1 ISO RGD:1317352 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spastic ataxia 1 PMID:11774073|PMID:22958904|PMID:25741868|PMID:26467025|PMID:28168212|PMID:28492532 12349839 TAPBPL TAP binding protein like gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1317352 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12349839 TAPBPL TAP binding protein like gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1317352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12349839 TAPBPL TAP binding protein like gene DOID:0111621 Temtamy syndrome ISO RGD:1317352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12349839 TAPBPL TAP binding protein like gene DOID:3635 congenital myasthenic syndrome ISO RGD:1317352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:28253535 12349839 TAPBPL TAP binding protein like gene DOID:607 paraplegia ISO RGD:1317352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:11774073|PMID:17576681|PMID:22958904|PMID:25741868|PMID:26467025|PMID:28168212|PMID:28253535|PMID:28492532|PMID:30293248|PMID:33631708|PMID:9536098 12349839 TAPBPL TAP binding protein like gene DOID:630 genetic disease ISO RGD:1317352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349839 TAPBPL TAP binding protein like gene DOID:9004718 Congenital Myasthenic Syndrome 25 ISO RGD:1317352 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 25, presynaptic PMID:25741868|PMID:26467025|PMID:28168212|PMID:28253535|PMID:28492532|PMID:28600779 12349839 TAPBPL TAP binding protein like gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1317352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12349839 TAPBPL TAP binding protein like gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1317352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12349854 HPSE2 heparanase 2 (inactive) gene DOID:0050816 urofacial syndrome ISO RGD:1317455 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ochoa syndrome PMID:25741868 12349854 HPSE2 heparanase 2 (inactive) gene DOID:0080205 CAKUT ISO RGD:1317455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:19669792|PMID:20560210|PMID:25510506|PMID:27151922|PMID:28492532|PMID:30143558 12349854 HPSE2 heparanase 2 (inactive) gene DOID:630 genetic disease ISO RGD:1317455 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12349854 HPSE2 heparanase 2 (inactive) gene DOID:9006560 Urofacial Syndrome 1 ISO RGD:1317455 D RGD:7240710 20180221 OMIM 12349854 HPSE2 heparanase 2 (inactive) gene DOID:9006560 Urofacial Syndrome 1 ISO RGD:1317455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Urofacial syndrome type 1 PMID:11446407|PMID:19669792|PMID:19839856|PMID:20560209|PMID:20560210|PMID:21332471|PMID:25510506|PMID:25741868|PMID:27151922|PMID:28492532|PMID:30143558 12349871 RPUSD4 RNA pseudouridine synthase D4 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1345355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12349871 RPUSD4 RNA pseudouridine synthase D4 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1345355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12349871 RPUSD4 RNA pseudouridine synthase D4 gene DOID:5419 schizophrenia ISO RGD:1345355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12349871 RPUSD4 RNA pseudouridine synthase D4 gene DOID:630 genetic disease ISO RGD:1345355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349871 RPUSD4 RNA pseudouridine synthase D4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12349871 RPUSD4 RNA pseudouridine synthase D4 gene DOID:9007661 Dwarfism ISO RGD:1345355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12349882 ACAA2 acetyl-CoA acyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:733990 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12349882 ACAA2 acetyl-CoA acyltransferase 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:733990 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12349882 ACAA2 acetyl-CoA acyltransferase 2 gene DOID:630 genetic disease ISO RGD:733990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349882 ACAA2 acetyl-CoA acyltransferase 2 gene DOID:8398 osteoarthritis ISO RGD:733990 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12349898 FRMD7 FERM domain containing 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12349898 FRMD7 FERM domain containing 7 gene DOID:0111790 congenital nystagmus 1 ISO RGD:1352948 D RGD:7240710 20180130 OMIM 12349898 FRMD7 FERM domain containing 7 gene DOID:0111790 congenital nystagmus 1 ISO RGD:1352948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nystagmus 1, congenital, X-linked PMID:16020310|PMID:17013395|PMID:17768376|PMID:17962394|PMID:18087240|PMID:19072571|PMID:21303855|PMID:21746984|PMID:23020937|PMID:25678693|PMID:25741868|PMID:25916882|PMID:27081518|PMID:28492532|PMID:30025138|PMID:30942644 12349898 FRMD7 FERM domain containing 7 gene DOID:12849 autistic disorder ISO RGD:1352948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12349898 FRMD7 FERM domain containing 7 gene DOID:630 genetic disease ISO RGD:1352948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26268155|PMID:28492532 12349898 FRMD7 FERM domain containing 7 gene DOID:8501 fundus dystrophy ISO RGD:1352948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 12349914 URM1 ubiquitin related modifier 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315307 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12349914 URM1 ubiquitin related modifier 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1315307 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12349914 URM1 ubiquitin related modifier 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315307 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12349914 URM1 ubiquitin related modifier 1 gene DOID:630 genetic disease ISO RGD:1315307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349914 URM1 ubiquitin related modifier 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1315307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12349914 URM1 ubiquitin related modifier 1 gene DOID:9000918 Disease Progression ISO RGD:1315307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12349926 TMEM130 transmembrane protein 130 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12349926 TMEM130 transmembrane protein 130 gene DOID:630 genetic disease ISO RGD:1605559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349942 C7H1orf116 chromosome 7 C1orf116 homolog gene DOID:0050589 inflammatory bowel disease ISO RGD:1604289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 12349942 C7H1orf116 chromosome 7 C1orf116 homolog gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1604289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 12349942 C7H1orf116 chromosome 7 C1orf116 homolog gene DOID:12849 autistic disorder ISO RGD:1604289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12349942 C7H1orf116 chromosome 7 C1orf116 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1604289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12349942 C7H1orf116 chromosome 7 C1orf116 homolog gene DOID:630 genetic disease ISO RGD:1604289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349942 C7H1orf116 chromosome 7 C1orf116 homolog gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1604289 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12349942 C7H1orf116 chromosome 7 C1orf116 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12349974 CIB3 calcium and integrin binding family member 3 gene DOID:630 genetic disease ISO RGD:1312677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349983 EFNB2 ephrin B2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1319867 D RGD:9068941 20220811 RGD protein:increased expression:oral mucosa (human) PMID:26044849|REF_RGD_ID:153323290 12349983 EFNB2 ephrin B2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1319867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12349983 EFNB2 ephrin B2 gene DOID:0080199 colorectal carcinoma ameliorates ISO RGD:1319867 D RGD:9068941 20220811 RGD human cells in mouse model PMID:26494468|REF_RGD_ID:153300950 12349983 EFNB2 ephrin B2 gene DOID:10534 stomach cancer ISO RGD:1319867 D RGD:9068941 20220811 RGD mRNA:increased expression:stomach (human) PMID:12136247|REF_RGD_ID:153323289 12349983 EFNB2 ephrin B2 gene DOID:1520 colon carcinoma ameliorates ISO RGD:1319867 D RGD:9068941 20220811 RGD human cells in mouse model PMID:15083195|REF_RGD_ID:153305907 12349983 EFNB2 ephrin B2 gene DOID:3748 esophagus squamous cell carcinoma ameliorates ISO RGD:1319867 D RGD:9068941 20220811 RGD human cells in mouse model PMID:29190834|REF_RGD_ID:153300948 12349983 EFNB2 ephrin B2 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:1319867 D RGD:9068941 20220811 RGD mRNA,protein:increased expression:esophagus squamous epithelium (human) PMID:31885720|REF_RGD_ID:153300949 12349983 EFNB2 ephrin B2 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1319867 D RGD:9068941 20220811 RGD mRNA:increased expression:esophagus squamous epithelium (human) PMID:17611172|REF_RGD_ID:153300947 12349983 EFNB2 ephrin B2 gene DOID:630 genetic disease ISO RGD:1319867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349983 EFNB2 ephrin B2 gene DOID:799 varicose veins ISO RGD:1319867 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:vein: PMID:26808710|REF_RGD_ID:11529441 12349983 EFNB2 ephrin B2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1309497 D RGD:9068941 20210625 RGD mRNA,protein:increased expression:fibroblast, astrocyte PMID:33794069|REF_RGD_ID:127285659 12349983 EFNB2 ephrin B2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1309497 D RGD:9068941 20210702 RGD protein:increased phosporylation:spinal cord PMID:12944508|REF_RGD_ID:127285804 12349983 EFNB2 ephrin B2 gene DOID:9000096 Lung Agenesis ISO RGD:1319867 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30106123 12349983 EFNB2 ephrin B2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1319867 D RGD:9068941 20220811 RGD associated with cholangiocarcinoma;protein:increased expression:biliary ductule (human) PMID:25012246|REF_RGD_ID:153305948 12349983 EFNB2 ephrin B2 gene DOID:9000970 Focal Nodular Hyperplasia ISO RGD:1319867 D RGD:9068941 20221110 RGD mRNA:decreased expression:liver PMID:23870033|REF_RGD_ID:155646133 12349983 EFNB2 ephrin B2 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:1309497 D RGD:9068941 20221201 RGD mRNA:increased expression:retina PMID:26670826|REF_RGD_ID:155663663 12349983 EFNB2 ephrin B2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1319867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12349983 EFNB2 ephrin B2 gene DOID:9004009 Reperfusion Injury ISO RGD:1319867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 12349983 EFNB2 ephrin B2 gene DOID:9005172 Lung Neoplasms ISO RGD:1319867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12349983 EFNB2 ephrin B2 gene DOID:9007188 Liver Neoplasms ISO RGD:1319867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12349983 EFNB2 ephrin B2 gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:1319867 D RGD:9068941 20220811 RGD protein:increased expression:nasopharynx (human) PMID:23631129|REF_RGD_ID:153305949 12349983 EFNB2 ephrin B2 gene DOID:9778 irritable bowel syndrome ISO RGD:1309497 D RGD:9068941 20210604 RGD associated with trichuriasis;protein:increased expression:colonic muscularis: PMID:31601124|REF_RGD_ID:127229906 12349990 TAS2R5 taste 2 receptor member 5 gene DOID:0080690 RASopathy ISO RGD:1353421 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12349990 TAS2R5 taste 2 receptor member 5 gene DOID:630 genetic disease ISO RGD:1353421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12349990 TAS2R5 taste 2 receptor member 5 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1353421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 12350020 LIN28A lin-28 homolog A gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1316876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 12350020 LIN28A lin-28 homolog A gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1316876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12350020 LIN28A lin-28 homolog A gene DOID:14566 disease of cellular proliferation ISO RGD:1316876 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:19483683 12350020 LIN28A lin-28 homolog A gene DOID:2154 nephroblastoma ISO RGD:1316877 D RGD:9068941 20220825 MouseDO OMIM:194070 12350020 LIN28A lin-28 homolog A gene DOID:630 genetic disease ISO RGD:1316876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350020 LIN28A lin-28 homolog A gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316876 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:26910839 12350020 LIN28A lin-28 homolog A gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1316876 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:19483683 12350028 NEURL3 neuralized E3 ubiquitin protein ligase 3 gene DOID:5419 schizophrenia ISO RGD:1605013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12350093 IL5 interleukin 5 gene DOID:0050256 angiostrongyliasis ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:8361777|REF_RGD_ID:11354948 12350093 IL5 interleukin 5 gene DOID:0050523 adult T-cell leukemia/lymphoma disease_progression ISO RGD:730927 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16425276|REF_RGD_ID:11354942 12350093 IL5 interleukin 5 gene DOID:0050589 inflammatory bowel disease susceptibility ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:22018693|REF_RGD_ID:5687148 12350093 IL5 interleukin 5 gene DOID:0060180 colitis ISO RGD:10799 D RGD:9068941 20200609 RGD protein: increased expression PMID:22018693|REF_RGD_ID:5687148 12350093 IL5 interleukin 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:730927 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12350093 IL5 interleukin 5 gene DOID:0080599 Coronavirus infectious disease ISO RGD:10799 D RGD:9068941 20200618 RGD PMID:19906920|REF_RGD_ID:4891446 12350093 IL5 interleukin 5 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:15368290|REF_RGD_ID:7241068 12350093 IL5 interleukin 5 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:730927 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21911837|REF_RGD_ID:11354912 12350093 IL5 interleukin 5 gene DOID:10534 stomach cancer susceptibility ISO RGD:730927 D RGD:9068941 20220204 RGD DNA:SNP::745 C>T (rs2069812)(human) PMID:18687755|REF_RGD_ID:151347690 12350093 IL5 interleukin 5 gene DOID:10923 sickle cell anemia ISO RGD:10799 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:25843670|REF_RGD_ID:11354938 12350093 IL5 interleukin 5 gene DOID:10955 strongyloidiasis severity ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:9824515|REF_RGD_ID:11354934 12350093 IL5 interleukin 5 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:730927 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16787590|REF_RGD_ID:11354946 12350093 IL5 interleukin 5 gene DOID:11132 prostatic hypertrophy treatment ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:20945403|REF_RGD_ID:5684375 12350093 IL5 interleukin 5 gene DOID:1184 nephrotic syndrome ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:22665336|REF_RGD_ID:7240715 12350093 IL5 interleukin 5 gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:25410867|REF_RGD_ID:11354937 12350093 IL5 interleukin 5 gene DOID:12849 autistic disorder ISO RGD:730927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16360218 12350093 IL5 interleukin 5 gene DOID:13922 eosinophilic esophagitis ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:23161496|REF_RGD_ID:11354947 12350093 IL5 interleukin 5 gene DOID:1394 urinary schistosomiasis resistance ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:9697734|REF_RGD_ID:7241010 12350093 IL5 interleukin 5 gene DOID:13976 peptic esophagitis ISO RGD:2900 D RGD:9068941 20200609 RGD associated with asthma; mRNA:increased expression:esophagus PMID:18222984|REF_RGD_ID:2307110 12350093 IL5 interleukin 5 gene DOID:1470 major depressive disorder ISO RGD:730927 D RGD:9068941 20200609 RGD protein: increased expression: serum PMID:22230487|REF_RGD_ID:5687135 12350093 IL5 interleukin 5 gene DOID:1496 echinococcosis ISO RGD:10799 D RGD:9068941 20200609 RGD mRNA: increased expression: : peritoneal lavage cells PMID:21912714|REF_RGD_ID:5687176 12350093 IL5 interleukin 5 gene DOID:2048 autoimmune hepatitis ISO RGD:730927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 12350093 IL5 interleukin 5 gene DOID:2841 asthma ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:11159041|PMID:9182686|REF_RGD_ID:4890963|REF_RGD_ID:5687189 12350093 IL5 interleukin 5 gene DOID:2841 asthma ISO RGD:10799 D RGD:9068941 20200609 RGD protein:increased expression:lungs, respiratory system fluid/secretion PMID:22085848|REF_RGD_ID:5687144 12350093 IL5 interleukin 5 gene DOID:2841 asthma ISO RGD:10799 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:15626484|REF_RGD_ID:4890947 12350093 IL5 interleukin 5 gene DOID:2841 asthma ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:17074272|PMID:19947994|REF_RGD_ID:4145461|REF_RGD_ID:4890938 12350093 IL5 interleukin 5 gene DOID:2841 asthma ISO RGD:730927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23266719|PMID:7540862 12350093 IL5 interleukin 5 gene DOID:2841 asthma ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:15502111|REF_RGD_ID:4890948 12350093 IL5 interleukin 5 gene DOID:2841 asthma ISO RGD:730927 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-703C>T (human) PMID:18629290|REF_RGD_ID:4890940 12350093 IL5 interleukin 5 gene DOID:2841 asthma ISO RGD:730927 D RGD:9068941 20200609 RGD protein: increased levels: sputum PMID:22186238|REF_RGD_ID:5687140 12350093 IL5 interleukin 5 gene DOID:2841 asthma disease_progression ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:9493449|REF_RGD_ID:4890962 12350093 IL5 interleukin 5 gene DOID:2841 asthma treatment ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:25008888|REF_RGD_ID:11354973 12350093 IL5 interleukin 5 gene DOID:3042 allergic contact dermatitis ISO RGD:730927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15347381 12350093 IL5 interleukin 5 gene DOID:3044 food allergy ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:22077487|REF_RGD_ID:5687145 12350093 IL5 interleukin 5 gene DOID:3049 Churg-Strauss syndrome severity ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:22772323|REF_RGD_ID:6892720 12350093 IL5 interleukin 5 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730927 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20858153|REF_RGD_ID:4890939 12350093 IL5 interleukin 5 gene DOID:3310 atopic dermatitis ISO RGD:730927 D RGD:9068941 20200609 RGD mRNA: increased expression: skin PMID:22299064|REF_RGD_ID:5687175 12350093 IL5 interleukin 5 gene DOID:3310 atopic dermatitis ISO RGD:730927 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:11886533|PMID:18249437|PMID:33274957 12350093 IL5 interleukin 5 gene DOID:3525 middle cerebral artery infarction ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:23028794|REF_RGD_ID:7204480 12350093 IL5 interleukin 5 gene DOID:3770 pulmonary fibrosis ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:14975941|REF_RGD_ID:4890954 12350093 IL5 interleukin 5 gene DOID:3770 pulmonary fibrosis ISO RGD:10799 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17986108|REF_RGD_ID:4890942 12350093 IL5 interleukin 5 gene DOID:3770 pulmonary fibrosis ISO RGD:730927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17620002 12350093 IL5 interleukin 5 gene DOID:4031 eosinophilic gastroenteritis ISO RGD:730927 D RGD:9068941 20200609 RGD protein:increased expression:intestine, eosinophil PMID:8608886|REF_RGD_ID:11354940 12350093 IL5 interleukin 5 gene DOID:4481 allergic rhinitis treatment ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:23934070|PMID:24620662|REF_RGD_ID:11354976|REF_RGD_ID:11522769 12350093 IL5 interleukin 5 gene DOID:4483 rhinitis ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:11884474|REF_RGD_ID:5128622 12350093 IL5 interleukin 5 gene DOID:5041 esophageal cancer treatment ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:20232121|REF_RGD_ID:5134997 12350093 IL5 interleukin 5 gene DOID:630 genetic disease ISO RGD:730927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350093 IL5 interleukin 5 gene DOID:7148 rheumatoid arthritis ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:22293286|REF_RGD_ID:5687156 12350093 IL5 interleukin 5 gene DOID:8398 osteoarthritis ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:22035391|REF_RGD_ID:5687147 12350093 IL5 interleukin 5 gene DOID:841 extrinsic allergic alveolitis ISO RGD:10799 D RGD:9068941 20200609 RGD protein:increased expression:lung,respiratory system fluid/secretion PMID:19151189|REF_RGD_ID:4889106 12350093 IL5 interleukin 5 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:9712797|REF_RGD_ID:4890961 12350093 IL5 interleukin 5 gene DOID:9000772 Bronchial Hyperreactivity treatment ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:10471622|REF_RGD_ID:11354935 12350093 IL5 interleukin 5 gene DOID:9000998 Brain Injuries ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:24602693|REF_RGD_ID:11522766 12350093 IL5 interleukin 5 gene DOID:9000998 Brain Injuries treatment ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:24530657|REF_RGD_ID:11522770 12350093 IL5 interleukin 5 gene DOID:9001371 Eosinophilia ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:1988543|REF_RGD_ID:11354921 12350093 IL5 interleukin 5 gene DOID:9001371 Eosinophilia ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:11884473|REF_RGD_ID:625643 12350093 IL5 interleukin 5 gene DOID:9001371 Eosinophilia ISO RGD:730927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11006010|PMID:1988543 12350093 IL5 interleukin 5 gene DOID:9001371 Eosinophilia ISO RGD:730927 D RGD:9068941 20200609 RGD associated with Dermatitis, Atopic;DNA:polymorphism:promoter:-703C>T (human) PMID:14581138|REF_RGD_ID:11354913 12350093 IL5 interleukin 5 gene DOID:9001371 Eosinophilia severity ISO RGD:730927 D RGD:9068941 20200609 RGD associated with Lymphoma, T-Cell PMID:18395252|REF_RGD_ID:11354898 12350093 IL5 interleukin 5 gene DOID:9001371 Eosinophilia treatment ISO RGD:10799 D RGD:9068941 20200609 RGD associated with Toxocariasis PMID:1699772|REF_RGD_ID:11354933 12350093 IL5 interleukin 5 gene DOID:9002892 Parasitic Intestinal Diseases ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:15534922|REF_RGD_ID:11354941 12350093 IL5 interleukin 5 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:730927 D RGD:9068941 20200609 RGD protein: increased levels: sputum PMID:22186238|REF_RGD_ID:5687140 12350093 IL5 interleukin 5 gene DOID:9004283 Transplant Rejection treatment ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:11267027|REF_RGD_ID:11354977 12350093 IL5 interleukin 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12350093 IL5 interleukin 5 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:22293286|REF_RGD_ID:5687156 12350093 IL5 interleukin 5 gene DOID:9006647 Experimental Autoimmune Neuritis treatment ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:22310911|REF_RGD_ID:11522768 12350093 IL5 interleukin 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:730927 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12350093 IL5 interleukin 5 gene DOID:9007073 Cough treatment ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:9525446|REF_RGD_ID:10449525 12350093 IL5 interleukin 5 gene DOID:9008865 Entamoebiasis ISO RGD:730927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16374615 12350093 IL5 interleukin 5 gene DOID:9074 systemic lupus erythematosus ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:23054011|REF_RGD_ID:7241039 12350093 IL5 interleukin 5 gene DOID:9362 status asthmaticus ISO RGD:730927 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:10934091|REF_RGD_ID:4890960 12350093 IL5 interleukin 5 gene DOID:9498 pulmonary eosinophilia ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:9712797|REF_RGD_ID:4890961 12350093 IL5 interleukin 5 gene DOID:9498 pulmonary eosinophilia ISO RGD:10799 D RGD:9068941 20200609 RGD associated with respiratory syncytial virus infection PMID:18519743|REF_RGD_ID:4890941 12350093 IL5 interleukin 5 gene DOID:9498 pulmonary eosinophilia ISO RGD:730927 D RGD:9068941 20200609 RGD associated with Pulmonary Fibrosis;protein:increased expression:respiratory system fluid/secretion PMID:17597386|REF_RGD_ID:11354949 12350093 IL5 interleukin 5 gene DOID:9498 pulmonary eosinophilia ISO RGD:730927 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:12765419|REF_RGD_ID:4890956 12350093 IL5 interleukin 5 gene DOID:9498 pulmonary eosinophilia treatment ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:10471622|REF_RGD_ID:11354935 12350101 NMS neuromedin S gene DOID:630 genetic disease ISO RGD:1604755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350123 NCAPG2 non-SMC condensin II complex subunit G2 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1603208 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 12350123 NCAPG2 non-SMC condensin II complex subunit G2 gene DOID:12849 autistic disorder ISO RGD:1603208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12350123 NCAPG2 non-SMC condensin II complex subunit G2 gene DOID:14330 Parkinson's disease ISO RGD:1603208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 12350123 NCAPG2 non-SMC condensin II complex subunit G2 gene DOID:630 genetic disease ISO RGD:1603208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350123 NCAPG2 non-SMC condensin II complex subunit G2 gene DOID:9000330 Kahn-Kahn-Katsanis Syndrome ISO RGD:1603208 D RGD:7240710 20190626 OMIM 12350123 NCAPG2 non-SMC condensin II complex subunit G2 gene DOID:9000330 Kahn-Kahn-Katsanis Syndrome ISO RGD:1603208 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: 3K SYNDROME PMID:25741868|PMID:28492532|PMID:30609410 12350171 MRPS26 mitochondrial ribosomal protein S26 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1318680 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12350171 MRPS26 mitochondrial ribosomal protein S26 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1318680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12350171 MRPS26 mitochondrial ribosomal protein S26 gene DOID:630 genetic disease ISO RGD:1318680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350179 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:0080205 CAKUT ISO RGD:1315178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:12766769|PMID:18671281|PMID:25741868|PMID:28492532|PMID:28844315|PMID:30143558|PMID:34246755 12350179 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:0090001 Fraser syndrome ISO RGD:1315178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cryptophthalmos with other malformations PMID:12766769|PMID:18671281|PMID:25741868|PMID:28492532|PMID:28844315|PMID:34246755 12350179 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:0110839 Usher syndrome type 2C ISO RGD:1315178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2C PMID:21900877|PMID:25741868|PMID:28492532 12350179 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:0111405 Fraser syndrome 1 ISO RGD:1315178 D RGD:7240710 20180130 OMIM 12350179 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:0111405 Fraser syndrome 1 ISO RGD:1315178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:12766769|PMID:16199547|PMID:16894541|PMID:17163535|PMID:17576681|PMID:18671281|PMID:21900877|PMID:22029163|PMID:23532946|PMID:24476948|PMID:24551978|PMID:24583203|PMID:24700879|PMID:25353622|PMID:25741868|PMID:26302956|PMID:26893459|PMID:27280866|PMID:27859469|PMID:27884173|PMID:28492532|PMID:28844315|PMID:29261186|PMID:30639323|PMID:31319225|PMID:31738409|PMID:31999076|PMID:33726816|PMID:34246755|PMID:34974531|PMID:35005812|PMID:9536098 12350179 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1315178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:24700879|PMID:25353622|PMID:26893459|PMID:28492532 12350179 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:10907 microcephaly ISO RGD:1315178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12350179 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:11836 clubfoot ISO RGD:1315179 D RGD:9068941 20220825 MouseDO OMIM:119800 12350179 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:1315178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rieger anomaly PMID:26893459|PMID:28492532 12350179 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:14766 renal agenesis ISO RGD:1315178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal agenesis PMID:25741868|PMID:35005812 12350179 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:2661 myoepithelioma ISO RGD:1315178 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12350179 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1315178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:25741868|PMID:28492532 12350179 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:630 genetic disease ISO RGD:1315178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32643034 12350179 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1315178 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12350179 FRAS1 Fraser extracellular matrix complex subunit 1 gene DOID:9008205 Macrostomia ISO RGD:1315178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17163535 12350257 RANBP9 RAN binding protein 9 gene DOID:630 genetic disease ISO RGD:1344686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350277 RPL37A ribosomal protein L37a gene DOID:11612 polycystic ovary syndrome ISO RGD:1317728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12350277 RPL37A ribosomal protein L37a gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12350285 SKIC8 SKI8 subunit of superkiller complex gene DOID:2717 Bloom syndrome ISO RGD:1601957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12350285 SKIC8 SKI8 subunit of superkiller complex gene DOID:9256 colorectal cancer ISO RGD:1601957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12350299 PPP2R1B protein phosphatase 2 scaffold subunit Abeta gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1312396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 12350299 PPP2R1B protein phosphatase 2 scaffold subunit Abeta gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1312396 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 12350299 PPP2R1B protein phosphatase 2 scaffold subunit Abeta gene DOID:1059 intellectual disability ISO RGD:1312396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12350299 PPP2R1B protein phosphatase 2 scaffold subunit Abeta gene DOID:12704 ataxia telangiectasia ISO RGD:1312396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12350299 PPP2R1B protein phosphatase 2 scaffold subunit Abeta gene DOID:3905 lung carcinoma ISO RGD:1312396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:11996789|PMID:9765152 12350299 PPP2R1B protein phosphatase 2 scaffold subunit Abeta gene DOID:630 genetic disease ISO RGD:1312396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350299 PPP2R1B protein phosphatase 2 scaffold subunit Abeta gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1312396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12350299 PPP2R1B protein phosphatase 2 scaffold subunit Abeta gene DOID:9005172 Lung Neoplasms ISO RGD:1312396 D RGD:7240710 20180130 OMIM 12350299 PPP2R1B protein phosphatase 2 scaffold subunit Abeta gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1312396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 12350330 PTGES prostaglandin E synthase gene DOID:0060041 autism spectrum disorder ISO RGD:69032 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12350330 PTGES prostaglandin E synthase gene DOID:0060074 ductal carcinoma in situ ISO RGD:69032 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:16353170|REF_RGD_ID:2300083 12350330 PTGES prostaglandin E synthase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:69032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12350330 PTGES prostaglandin E synthase gene DOID:11111 hydronephrosis ISO RGD:69032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22430074|PMID:25015655 12350330 PTGES prostaglandin E synthase gene DOID:11624 penile benign neoplasm ISO RGD:69032 D RGD:9068941 20200609 RGD protein:increased expression:penis, skin PMID:14871981|REF_RGD_ID:2300087 12350330 PTGES prostaglandin E synthase gene DOID:13976 peptic esophagitis ISO RGD:62076 D RGD:9068941 20200609 RGD protein:increased expression:esophagus PMID:16210398|REF_RGD_ID:2300085 12350330 PTGES prostaglandin E synthase gene DOID:2152 ovary epithelial cancer ISO RGD:69032 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17107625|REF_RGD_ID:2300080 12350330 PTGES prostaglandin E synthase gene DOID:2615 papilloma ISO RGD:62076 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:16621493|REF_RGD_ID:1642457 12350330 PTGES prostaglandin E synthase gene DOID:2671 transitional cell carcinoma ISO RGD:62076 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:16621493|REF_RGD_ID:1642457 12350330 PTGES prostaglandin E synthase gene DOID:2671 transitional cell carcinoma ISO RGD:69032 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:14499677|REF_RGD_ID:2300088 12350330 PTGES prostaglandin E synthase gene DOID:2870 endometrial adenocarcinoma ISO RGD:69032 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:11592775|REF_RGD_ID:2300089 12350330 PTGES prostaglandin E synthase gene DOID:289 endometriosis ISO RGD:69032 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:epithelial cell PMID:17295901|REF_RGD_ID:2300079 12350330 PTGES prostaglandin E synthase gene DOID:326 ischemia ISO RGD:62076 D RGD:9068941 20200609 RGD PMID:12431630|REF_RGD_ID:2300116 12350330 PTGES prostaglandin E synthase gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:69032 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20592629|REF_RGD_ID:5135302 12350330 PTGES prostaglandin E synthase gene DOID:630 genetic disease ISO RGD:69032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350330 PTGES prostaglandin E synthase gene DOID:8719 in situ carcinoma ISO RGD:69032 D RGD:9068941 20200609 RGD protein:increased expression:penis, skin PMID:14871981|REF_RGD_ID:2300087 12350330 PTGES prostaglandin E synthase gene DOID:8719 in situ carcinoma ISO RGD:69032 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:14499677|REF_RGD_ID:2300088 12350330 PTGES prostaglandin E synthase gene DOID:9000972 Fever ISO RGD:69032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25164664 12350330 PTGES prostaglandin E synthase gene DOID:9002331 Knee Osteoarthritis ISO RGD:62076 D RGD:9068941 20200609 RGD PMID:17530714|REF_RGD_ID:2300093 12350330 PTGES prostaglandin E synthase gene DOID:9002457 Experimental Arthritis ISO RGD:62076 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:paw PMID:12707354|REF_RGD_ID:2300108 12350330 PTGES prostaglandin E synthase gene DOID:9004009 Reperfusion Injury ISO RGD:62076 D RGD:9068941 20200609 RGD PMID:12431630|REF_RGD_ID:2300116 12350330 PTGES prostaglandin E synthase gene DOID:9004009 Reperfusion Injury ISO RGD:62368 D RGD:9068941 20200609 RGD PMID:16864802|REF_RGD_ID:2300094 12350330 PTGES prostaglandin E synthase gene DOID:9005274 Polyuria ISO RGD:69032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19692487 12350330 PTGES prostaglandin E synthase gene DOID:9005372 Inflammation ISO RGD:62076 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, paw, spinal cord PMID:15044444|REF_RGD_ID:2300106 12350330 PTGES prostaglandin E synthase gene DOID:9005372 Inflammation ISO RGD:69032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25314295 12350330 PTGES prostaglandin E synthase gene DOID:9008939 Breast Neoplasms ISO RGD:69032 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:16353170|REF_RGD_ID:2300083 12350330 PTGES prostaglandin E synthase gene DOID:9206 Barrett's esophagus ISO RGD:62076 D RGD:9068941 20200609 RGD mRNA:increased expression:esophagus PMID:14684572|REF_RGD_ID:2300107 12350337 HIPK2 homeodomain interacting protein kinase 2 gene DOID:11664 nephrosclerosis ISO RGD:1319649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 12350337 HIPK2 homeodomain interacting protein kinase 2 gene DOID:5199 ureteral obstruction ISO RGD:1319649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 12350337 HIPK2 homeodomain interacting protein kinase 2 gene DOID:630 genetic disease ISO RGD:1319649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350337 HIPK2 homeodomain interacting protein kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:0050700 cardiomyopathy ISO RGD:732177 D RGD:9068941 20220825 MouseDO 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue ISO RGD:732176 D RGD:9068941 20220428 RGD protein:increased expression: mucosa-associated lymphoid tissue (human) PMID:27544389|REF_RGD_ID:152023632 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:0060284 paroxysmal nocturnal hemoglobinuria treatment ISO RGD:732176 D RGD:9068941 20200609 RGD PMID:22206707|REF_RGD_ID:11352266 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:0060591 WHIM syndrome 1 ISO RGD:732176 D RGD:7240710 20180130 OMIM 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:0060591 WHIM syndrome 1 ISO RGD:732176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: WHIM syndrome 1 | ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:12692554|PMID:15026312|PMID:15536153|PMID:16275383|PMID:16899028|PMID:17803866|PMID:18436740|PMID:19043667|PMID:19476565|PMID:19956569|PMID:20472031|PMID:20736454|PMID:21070597|PMID:22748845|PMID:23009155|PMID:23794067|PMID:25571909|PMID:25662009|PMID:25741868|PMID:28353164|PMID:28492532|PMID:29659363|PMID:30819232|PMID:31313072|PMID:31493092 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:0060901 lymphoplasmacytic lymphoma disease_progression ISO RGD:732176 D RGD:9068941 20200609 RGD DNA:mutation:cds:1013C>G(p.S338X)(human) PMID:24711662|REF_RGD_ID:11352304 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:732176 D RGD:9068941 20220422 RGD mRNA,protein:increased expression:colorectum (human) PMID:18803056|REF_RGD_ID:151893518 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:0080600 COVID-19 ISO RGD:732176 D RGD:9068941 20200709 RGD mRNA:decreased expression:memory B cells (human) PMID:32377375|REF_RGD_ID:32716422 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:0111974 immunodeficiency 59 ISO RGD:732176 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality PMID:25741868 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:10283 prostate cancer ameliorates ISO RGD:732176 D RGD:9068941 20220429 RGD human cells in mouse model PMID:30537000|REF_RGD_ID:152025215 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:10534 stomach cancer ameliorates ISO RGD:732176 D RGD:9068941 20220428 RGD human cells in mouse model PMID:27007162|REF_RGD_ID:152023648 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:10534 stomach cancer disease_progression ISO RGD:732176 D RGD:9068941 20220318 RGD human cells in mouse model PMID:28544312|REF_RGD_ID:151665321 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:10534 stomach cancer disease_progression ISO RGD:732176 D RGD:9068941 20220422 RGD mRNA:increased expression:stomach (human) PMID:21633638|REF_RGD_ID:152023624 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:10534 stomach cancer exacerbates ISO RGD:732176 D RGD:9068941 20220428 RGD protein:increased expression:stomach (human) PMID:19148483|PMID:25368239|REF_RGD_ID:152023608|REF_RGD_ID:152023660 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:11476 osteoporosis ISO RGD:732176 D RGD:9068941 20200609 RGD PMID:29882473|REF_RGD_ID:14700776 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:11664 nephrosclerosis ISO RGD:732176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:1993 rectum cancer exacerbates ISO RGD:732176 D RGD:9068941 20220422 RGD protein:increased expression:rectum (human) PMID:24375277|REF_RGD_ID:152023614 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:2596 larynx cancer exacerbates ISO RGD:732176 D RGD:9068941 20220512 RGD protein:increased expression: mucosa of larynx (human) PMID:23259294|REF_RGD_ID:152177474 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:2600 laryngeal carcinoma disease_progression ISO RGD:732176 D RGD:9068941 20220506 RGD protein:increased expression:larynx (human) PMID:16494043|REF_RGD_ID:152025548 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:3328 temporal lobe epilepsy ISO RGD:620465 D RGD:9068941 20200609 RGD PMID:28104461|REF_RGD_ID:13463105 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:3347 osteosarcoma ameliorates ISO RGD:732176 D RGD:9068941 20220506 RGD human cells in mouse model PMID:31571016|REF_RGD_ID:152025557 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:732176 D RGD:9068941 20220428 RGD protein:increased expression:esophagus squamous epithelium (human) PMID:17171785|REF_RGD_ID:152023646 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:3753 Hermansky-Pudlak syndrome disease_progression ISO RGD:732176 D RGD:9068941 20200609 RGD PMID:25347450|REF_RGD_ID:11352293 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732176 D RGD:9068941 20220428 RGD protein:increased expression:lung (human) PMID:22977534|REF_RGD_ID:152023747 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:732176 D RGD:9068941 20220428 RGD protein:increased expression:lung (human) PMID:30103827|REF_RGD_ID:152023735 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:732176 D RGD:9068941 20220512 RGD mRNA:increased expression:lung (human) PMID:19716197|REF_RGD_ID:152177480 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:732176 D RGD:9068941 20200609 RGD PMID:21448932|REF_RGD_ID:11352272 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:732176 D RGD:9068941 20230128 RGD mRNA:increased expression:kidney: PMID:29218250|REF_RGD_ID:155804290 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:4531 mucoepidermoid carcinoma disease_progression ISO RGD:732176 D RGD:9068941 20220422 RGD protein:increased expression:saliva-secreting gland (human) PMID:28772134|REF_RGD_ID:152023620 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:5241 hemangioblastoma ISO RGD:732176 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:temporal lobe : PMID:27388534|REF_RGD_ID:155641257 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:5603 T-cell acute lymphoblastic leukemia treatment ISO RGD:732176 D RGD:9068941 20200609 RGD PMID:26931577|REF_RGD_ID:11352292 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:6000 congestive heart failure ISO RGD:732177 D RGD:9068941 20220825 MouseDO 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:612 primary immunodeficiency disease ISO RGD:732176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:615 leukopenia treatment ISO RGD:732176 D RGD:9068941 20200609 RGD associated with WHIM Syndrome; DNA:nonsense mutation: cds:p.R334X(human) PMID:21890643|REF_RGD_ID:6480654 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:630 genetic disease ISO RGD:732176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:6432 pulmonary hypertension treatment ISO RGD:620465 D RGD:9068941 20200723 RGD PMID:21294880|REF_RGD_ID:6480473 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:732176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504|PMID:26387944 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:684 hepatocellular carcinoma severity ISO RGD:732176 D RGD:9068941 20220318 RGD protein:increased expression:liver (human) PMID:30034941|REF_RGD_ID:151665331 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:732176 D RGD:9068941 20220318 RGD human cells in mouse model PMID:33574707|REF_RGD_ID:151665327 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:7148 rheumatoid arthritis ISO RGD:732176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:8577 ulcerative colitis ISO RGD:732176 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood immature plasma cells PMID:21087446|REF_RGD_ID:6480657 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:732176 D RGD:9068941 20220422 RGD associated with nasopharynx carcinoma; protein:increased expression:lymph node (human) PMID:16000558|REF_RGD_ID:151893515 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21312072|PMID:23743303 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732176 D RGD:9068941 20220512 RGD associated with Otorhinolaryngologic Neoplasms;mRNA,protein:increased expression:Laryngeal and hypopharyngeal tissue (human) PMID:18487224|REF_RGD_ID:152177478 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732176 D RGD:9068941 20220512 RGD associated with lung non-small cell carcinoma; protein:increased expression:lung (human) PMID:28000861|REF_RGD_ID:152177476 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732176 D RGD:9068941 20220512 RGD associated with lung non-small cell carcinoma;mRNA,protein:increased expression:lung (human) PMID:16322285|REF_RGD_ID:152177479 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:732176 D RGD:9068941 20220428 RGD associated with lung cancer; human cells in mouse model PMID:32037613|REF_RGD_ID:151708730 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:732176 D RGD:9068941 20220428 RGD human cells in mouse model;associated with lung cancer PMID:25504108|REF_RGD_ID:152023741 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:732176 D RGD:9068941 20220512 RGD associated with oral squamous cell carcinoma PMID:17634424|REF_RGD_ID:152177475 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:732177 D RGD:9068941 20220506 RGD associated with pancreatic cancer PMID:16230077|REF_RGD_ID:152025556 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:732176 D RGD:9068941 20220428 RGD associated with lung non-small cell carcinoma; protein:increased expression:lung (human) PMID:24932250|REF_RGD_ID:152023745 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:732176 D RGD:9068941 20220428 RGD associated with osteosarcoma;protein:increased expression:bone (human) PMID:26546437|REF_RGD_ID:152023746 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9001004 Chronic Periodontitis ISO RGD:732176 D RGD:9068941 20200609 RGD mRNA:increased expression:gingival tissues PMID:21382035|REF_RGD_ID:6480655 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9002138 Spinal Cord Reperfusion Injury ISO RGD:620465 D RGD:9068941 20200609 RGD PMID:27760212|REF_RGD_ID:12910551 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9002211 Hyperalgesia ISO RGD:620465 D RGD:9068941 20200609 RGD PMID:28638088|REF_RGD_ID:13838657 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9002211 Hyperalgesia treatment ISO RGD:620465 D RGD:9068941 20200609 RGD PMID:30142543|REF_RGD_ID:13838658 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:620465 D RGD:9068941 20200609 RGD PMID:24955809|REF_RGD_ID:11352686 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25753200 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9004771 Vascular Remodeling treatment ISO RGD:620465 D RGD:9068941 20210820 RGD PMID:21294880|REF_RGD_ID:6480473 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor severity ISO RGD:732176 D RGD:9068941 20220422 RGD protein:increased expression:colon (human) PMID:26259237|REF_RGD_ID:11530617 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9005968 Neuralgia ISO RGD:732176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17292584 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:620465 D RGD:9068941 20210820 RGD PMID:21294880|REF_RGD_ID:6480473 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:620465 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:29073721|REF_RGD_ID:13825150 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:732176 D RGD:9068941 20220421 RGD associated with colorectal cancer; human cells in mouse model PMID:30789971|REF_RGD_ID:151893289 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:732176 D RGD:9068941 20220428 RGD human cells in mouse model; associated with colorectal cancer PMID:29436696|REF_RGD_ID:152023643 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9006796 Gastrointestinal Neoplasms ameliorates ISO RGD:732176 D RGD:9068941 20220428 RGD PMID:15994964|REF_RGD_ID:152023654 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9007482 Bone Metastasis disease_progression ISO RGD:732176 D RGD:9068941 20220428 RGD associated with hepatocellular carcinoma;protein:increased expression:liver (human) PMID:19508713|REF_RGD_ID:152023653 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23743303 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9008104 Cancer Pain ISO RGD:620465 D RGD:9068941 20200609 RGD PMID:28638088|REF_RGD_ID:13838657 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9008104 Cancer Pain ISO RGD:620465 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord: PMID:28108674|REF_RGD_ID:13463594 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9008763 Femoral Fractures ISO RGD:620465 D RGD:9068941 20200609 RGD PMID:25181476|REF_RGD_ID:11352664 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9008939 Breast Neoplasms ISO RGD:732176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25753200 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9009121 lung metastasis ameliorates ISO RGD:732176 D RGD:9068941 20220421 RGD associated with colorectal cancer; human cells in mouse model PMID:31938138|REF_RGD_ID:151665329 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9009121 lung metastasis ameliorates ISO RGD:732176 D RGD:9068941 20220422 RGD associated with nasopharynx carcinoma; human cells in mouse model PMID:16000558|REF_RGD_ID:151893515 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9009121 lung metastasis ameliorates ISO RGD:732177 D RGD:9068941 20220428 RGD PMID:26498029|REF_RGD_ID:152023752 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9009121 lung metastasis ameliorates ISO RGD:732177 D RGD:9068941 20220512 RGD associated with osteosarcoma and melanoma PMID:18071913|REF_RGD_ID:152177473 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:732176 D RGD:9068941 20200609 RGD PMID:24035716|REF_RGD_ID:11352273 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:732176 D RGD:9068941 20200609 RGD PMID:26031918|REF_RGD_ID:11352265 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer ISO RGD:732176 D RGD:9068941 20220318 RGD mRNA:increased expression:colonic epithelium (human) PMID:32110952|REF_RGD_ID:151665323 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer ISO RGD:732176 D RGD:9068941 20220415 RGD human cells in mouse model; protein:increased expression:colorectum (human) PMID:29481800|REF_RGD_ID:151708721 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer ameliorates ISO RGD:732176 D RGD:9068941 20220422 RGD human cells in mouse model PMID:33617803|REF_RGD_ID:151893498 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer disease_progression ISO RGD:732176 D RGD:9068941 20220421 RGD mRNA:increased expression:colorectum (human) PMID:28739729|PMID:33429333|REF_RGD_ID:151665332|REF_RGD_ID:151709000 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer disease_progression ISO RGD:732176 D RGD:9068941 20220421 RGD protein:increased expression:blood serum (human) PMID:27330310|REF_RGD_ID:151708720 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer exacerbates ISO RGD:732176 D RGD:9068941 20220421 RGD mRNA,protein:increased expression:colon (human) PMID:29719205|REF_RGD_ID:151893497 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer severity ISO RGD:732176 D RGD:9068941 20220415 RGD protein:increased expression:colorectum (human) PMID:28515923|REF_RGD_ID:151708726 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer severity ISO RGD:732176 D RGD:9068941 20220428 RGD mRNA:increased expression:colon (human) PMID:15837989|REF_RGD_ID:152023657 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:732176 D RGD:9068941 20220428 RGD mRNA:increased expression:nasopharynx (human) PMID:26611644|REF_RGD_ID:152023644 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9261 nasopharynx carcinoma exacerbates ISO RGD:732176 D RGD:9068941 20220512 RGD protein:increased expression:nasopharynx (human) PMID:15978137|REF_RGD_ID:152177484 12350379 CXCR4 C-X-C motif chemokine receptor 4 gene DOID:9970 obesity ISO RGD:732177 D RGD:9068941 20200609 RGD PMID:25016030|REF_RGD_ID:13673852 12350386 BHLHE23 basic helix-loop-helix family member e23 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12350386 BHLHE23 basic helix-loop-helix family member e23 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1346145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12350386 BHLHE23 basic helix-loop-helix family member e23 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1346145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12350386 BHLHE23 basic helix-loop-helix family member e23 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1346145 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12350386 BHLHE23 basic helix-loop-helix family member e23 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12350386 BHLHE23 basic helix-loop-helix family member e23 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12350386 BHLHE23 basic helix-loop-helix family member e23 gene DOID:630 genetic disease ISO RGD:1346145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350390 CPEB3 cytoplasmic polyadenylation element binding protein 3 gene DOID:630 genetic disease ISO RGD:1348549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350390 CPEB3 cytoplasmic polyadenylation element binding protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1348549 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12350415 CLTB clathrin light chain B gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:733395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12350415 CLTB clathrin light chain B gene DOID:0112103 Sotos syndrome 1 ISO RGD:733395 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12350415 CLTB clathrin light chain B gene DOID:630 genetic disease ISO RGD:733395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350415 CLTB clathrin light chain B gene DOID:9005172 Lung Neoplasms ISO RGD:733395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12350426 HAPLN2 hyaluronan and proteoglycan link protein 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1351001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12350426 HAPLN2 hyaluronan and proteoglycan link protein 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1351001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12350426 HAPLN2 hyaluronan and proteoglycan link protein 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1351001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12350426 HAPLN2 hyaluronan and proteoglycan link protein 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1351001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12350426 HAPLN2 hyaluronan and proteoglycan link protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1351001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12350426 HAPLN2 hyaluronan and proteoglycan link protein 2 gene DOID:5812 MHC class II deficiency ISO RGD:1351001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12350426 HAPLN2 hyaluronan and proteoglycan link protein 2 gene DOID:630 genetic disease ISO RGD:1351001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350426 HAPLN2 hyaluronan and proteoglycan link protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12350437 PGC progastricsin gene DOID:0050444 infantile Refsum disease ISO RGD:735292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12350437 PGC progastricsin gene DOID:630 genetic disease ISO RGD:735292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350437 PGC progastricsin gene DOID:905 Zellweger syndrome ISO RGD:735292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12350455 CYLD CYLD lysine 63 deubiquitinase gene DOID:0050693 Brooke-Spiegler syndrome ISO RGD:1319183 D RGD:7240710 20180130 OMIM 12350455 CYLD CYLD lysine 63 deubiquitinase gene DOID:0050693 Brooke-Spiegler syndrome ISO RGD:1319183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brooke-Spiegler syndrome | ClinVar Annotator: match by term: Familial cylindromatosis | ClinVar Annotator: match by term: Familial multiple trichoepitheliomata | ClinVar Annotator: match by term: Trichoepithelioma, multiple familial, 1 PMID:10835629|PMID:12190880|PMID:12950348|PMID:14632188|PMID:15854031|PMID:16307661|PMID:16922728|PMID:19807742|PMID:24728327|PMID:25741868|PMID:28492532 12350455 CYLD CYLD lysine 63 deubiquitinase gene DOID:0111122 nephronophthisis 14 ISO RGD:1319183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 12350455 CYLD CYLD lysine 63 deubiquitinase gene DOID:11573 listeriosis ISO RGD:1319183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23825949 12350455 CYLD CYLD lysine 63 deubiquitinase gene DOID:2394 ovarian cancer ISO RGD:1319183 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 12350455 CYLD CYLD lysine 63 deubiquitinase gene DOID:3275 thymoma ISO RGD:1319183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24974848 12350455 CYLD CYLD lysine 63 deubiquitinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1319183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043644 12350455 CYLD CYLD lysine 63 deubiquitinase gene DOID:630 genetic disease ISO RGD:1319183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12350455 CYLD CYLD lysine 63 deubiquitinase gene DOID:684 hepatocellular carcinoma ISO RGD:1319183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21109933 12350455 CYLD CYLD lysine 63 deubiquitinase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1319183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29477382 12350455 CYLD CYLD lysine 63 deubiquitinase gene DOID:9004464 Skin Neoplasms susceptibility ISO RGD:1319183 D RGD:9068941 20200609 RGD familial cylindromatosis, OMIM:132700;DNA:nonsense mutations PMID:10835629|REF_RGD_ID:1601033 12350455 CYLD CYLD lysine 63 deubiquitinase gene DOID:9007226 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-8 ISO RGD:1319183 D RGD:7240710 20210113 OMIM 12350455 CYLD CYLD lysine 63 deubiquitinase gene DOID:9007226 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-8 ISO RGD:1319183 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 PMID:23338750|PMID:25741868|PMID:32185393 12350455 CYLD CYLD lysine 63 deubiquitinase gene DOID:9008454 Trichoepithelioma, Multiple Familial, 2 ISO RGD:1319183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichoepithelioma, multiple familial, 2 12350455 CYLD CYLD lysine 63 deubiquitinase gene DOID:9538 multiple myeloma ISO RGD:1319183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12350483 ASPG asparaginase gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1344860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12350483 ASPG asparaginase gene DOID:10211 cholelithiasis ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12902918 12350483 ASPG asparaginase gene DOID:11755 choledocholithiasis ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12902918 12350483 ASPG asparaginase gene DOID:1588 thrombocytopenia ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2187653 12350483 ASPG asparaginase gene DOID:2355 anemia ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2187653 12350483 ASPG asparaginase gene DOID:615 leukopenia ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2187653 12350483 ASPG asparaginase gene DOID:630 genetic disease ISO RGD:1344860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350483 ASPG asparaginase gene DOID:684 hepatocellular carcinoma ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12350483 ASPG asparaginase gene DOID:9000363 Hematuria ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2187653 12350483 ASPG asparaginase gene DOID:9000972 Fever ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2187653 12350483 ASPG asparaginase gene DOID:9007278 Anaphylaxis ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:65671 12350483 ASPG asparaginase gene DOID:9008385 Vomiting ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2187653 12350496 GABRR3 gamma-aminobutyric acid type A receptor rho3 subunit gene DOID:630 genetic disease ISO RGD:1352541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350509 OR6C35 olfactory receptor family 6 subfamily C member 35 gene DOID:630 genetic disease ISO RGD:1347505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350512 MIR19B-1 microRNA mir-19b-1 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1346116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 12350512 MIR19B-1 microRNA mir-19b-1 gene DOID:14330 Parkinson's disease ISO RGD:1346116 D RGD:9068941 20200609 RGD PMID:22003392|REF_RGD_ID:10755479 12350512 MIR19B-1 microRNA mir-19b-1 gene DOID:9256 colorectal cancer ISO RGD:1346116 D RGD:9068941 20220721 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12350565 FUCA1 alpha-L-fucosidase 1 gene DOID:1059 intellectual disability ISO RGD:735673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10094192|PMID:25741868|PMID:28492532|PMID:33266441|PMID:7581404|PMID:8401503 12350565 FUCA1 alpha-L-fucosidase 1 gene DOID:14500 fucosidosis IAGP D RGD:12801476 20210603 OMIA Fucosidosis, alpha PMID:7072491|PMID:2642067|PMID:2530677|PMID:2760271|PMID:1559875|PMID:1609845|PMID:1413057|PMID:1525209|PMID:8730282|PMID:8661697|PMID:8960193|PMID:9267851|PMID:6880626|PMID:6477509|PMID:4050341|PMID:4071939|PMID:3547950|PMID:10376901|PMID:21575633|PMID:21683140|PMID:21282938|PMID:21056668|PMID:10655154|PMID:3196299|PMID:3278467|PMID:2876234|PMID:3515668|PMID:3833197|PMID:6463379|PMID:23121383|PMID:27491218|PMID:32219101 12350565 FUCA1 alpha-L-fucosidase 1 gene DOID:14500 fucosidosis ISO RGD:735673 D RGD:7240710 20180130 OMIM 12350565 FUCA1 alpha-L-fucosidase 1 gene DOID:14500 fucosidosis ISO RGD:735673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fucosidosis PMID:10094192|PMID:10496076|PMID:1214294|PMID:12408193|PMID:1281988|PMID:17427030|PMID:17576681|PMID:2012122|PMID:23210910|PMID:24033266|PMID:24767253|PMID:25640679|PMID:25741868|PMID:2642067|PMID:26515723|PMID:27706744|PMID:28492532|PMID:30109123|PMID:31618753|PMID:31980526|PMID:33266441|PMID:7581404|PMID:7815431|PMID:8097260|PMID:8401503|PMID:8504303|PMID:8739734|PMID:9039984|PMID:9536098|PMID:9762612 12350565 FUCA1 alpha-L-fucosidase 1 gene DOID:630 genetic disease ISO RGD:735673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12350565 FUCA1 alpha-L-fucosidase 1 gene DOID:8947 diabetic retinopathy ISO RGD:2636 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased activity:retina PMID:10353622|REF_RGD_ID:2315932 12350565 FUCA1 alpha-L-fucosidase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:735673 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased activity;urine PMID:8343614|REF_RGD_ID:2315943 12350565 FUCA1 alpha-L-fucosidase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1553501 D RGD:9068941 20200609 RGD PMID:3924473|REF_RGD_ID:2315947 12350565 FUCA1 alpha-L-fucosidase 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:735673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:17692550|PMID:23465862|PMID:28492532|PMID:9817922 12350565 FUCA1 alpha-L-fucosidase 1 gene DOID:9006534 Nervous System Malformations ISO RGD:735673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12350565 FUCA1 alpha-L-fucosidase 1 gene DOID:9351 diabetes mellitus ISO RGD:735673 D RGD:9068941 20200609 RGD protein:decreased activity:blood platelets PMID:3609421|REF_RGD_ID:2315945 12350565 FUCA1 alpha-L-fucosidase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735673 D RGD:9068941 20200609 RGD protein:increased activity:serum PMID:16176171|REF_RGD_ID:2315931 12350565 FUCA1 alpha-L-fucosidase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735673 D RGD:9068941 20200609 RGD protein:decreased activity:plasma PMID:7304074|REF_RGD_ID:2315949 12350577 NKX2-1 NK2 homeobox 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:732483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:25741868|PMID:28492532 12350577 NKX2-1 NK2 homeobox 1 gene DOID:0050951 hereditary ataxia ISO RGD:732483 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: Hereditary ataxia PMID:24453141|PMID:25741868|PMID:29109906 12350577 NKX2-1 NK2 homeobox 1 gene DOID:12859 choreatic disease ISO RGD:732483 D RGD:7240710 20210113 OMIM 12350577 NKX2-1 NK2 homeobox 1 gene DOID:12859 choreatic disease ISO RGD:732483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Benign hereditary chorea PMID:11971878|PMID:12891678|PMID:15289765|PMID:15955952|PMID:16220345|PMID:17576681|PMID:19176457|PMID:23379327|PMID:23430038|PMID:24555207|PMID:24714694|PMID:24930029|PMID:25741868|PMID:28492532|PMID:28503612|PMID:29882472|PMID:9536098 12350577 NKX2-1 NK2 homeobox 1 gene DOID:12859 choreatic disease susceptibility ISO RGD:732483 D RGD:9068941 20210115 RGD DNA:transition: ; 745C>T PMID:16220345|REF_RGD_ID:1600157 12350577 NKX2-1 NK2 homeobox 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732483 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 12350577 NKX2-1 NK2 homeobox 1 gene DOID:3910 lung adenocarcinoma ISO RGD:732483 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 12350577 NKX2-1 NK2 homeobox 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:732483 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism 12350577 NKX2-1 NK2 homeobox 1 gene DOID:543 dystonia ISO RGD:732483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:18788921|PMID:24555207|PMID:25741868|PMID:27066577|PMID:28492532 12350577 NKX2-1 NK2 homeobox 1 gene DOID:630 genetic disease ISO RGD:732483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11971878|PMID:15955952|PMID:19336474|PMID:23379327|PMID:24714694|PMID:24930029|PMID:25741868|PMID:26723978|PMID:28492532|PMID:29882472 12350577 NKX2-1 NK2 homeobox 1 gene DOID:850 lung disease ISO RGD:732483 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:16863852 12350577 NKX2-1 NK2 homeobox 1 gene DOID:9003905 Benign Familial Chorea ISO RGD:732483 D RGD:9068941 20210115 RGD DNA:missense mutations:exon:p.W238L (713G>T), p.R243S (727C>A) (human) PMID:11971878|REF_RGD_ID:12914773 12350577 NKX2-1 NK2 homeobox 1 gene DOID:9003905 Benign Familial Chorea ISO RGD:732483 D RGD:9068941 20210115 RGD DNA:nonsense mutation:exon 2:p.S145X (c.609C>A) (human) PMID:18788921|REF_RGD_ID:11073166 12350577 NKX2-1 NK2 homeobox 1 gene DOID:9003905 Benign Familial Chorea ISO RGD:732483 D RGD:9068941 20210115 RGD DNA:splice-site mutation:intron:c.464-9C>A (human) PMID:22825795|REF_RGD_ID:12914772 12350577 NKX2-1 NK2 homeobox 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:732483 D RGD:9068941 20210115 RGD DNA:hypermethylation PMID:17504987|REF_RGD_ID:2290483 12350577 NKX2-1 NK2 homeobox 1 gene DOID:9004268 Uterine Neoplasms ISO RGD:732483 D RGD:9068941 20210115 RGD DNA:hypermethylation PMID:17504987|REF_RGD_ID:2290483 12350577 NKX2-1 NK2 homeobox 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26723978 12350577 NKX2-1 NK2 homeobox 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:732483 D RGD:7240710 20210113 OMIM 12350577 NKX2-1 NK2 homeobox 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:732483 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:11854318|PMID:11854319|PMID:11971878|PMID:12891678|PMID:15289765|PMID:15955952|PMID:17220277|PMID:17576681|PMID:18788921|PMID:19176457|PMID:19336474|PMID:22825795|PMID:22832740|PMID:23379327|PMID:24453141|PMID:24555207|PMID:24714694|PMID:24930029|PMID:25326635|PMID:25741868|PMID:26640963|PMID:27066577|PMID:28492532|PMID:28588801|PMID:28732825|PMID:29109906|PMID:29538355|PMID:29882472|PMID:30746413|PMID:9536098 12350577 NKX2-1 NK2 homeobox 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:732483 D RGD:7240710 20210113 OMIM 12350577 NKX2-1 NK2 homeobox 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:732483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:19176457|PMID:25741868|PMID:28492532 12350577 NKX2-1 NK2 homeobox 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:3866 D RGD:9068941 20210115 RGD mRNA, protein:increased expression:lung PMID:17245593|REF_RGD_ID:1600158 12350577 NKX2-1 NK2 homeobox 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:732483 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:10830305|PMID:16863852 12350577 NKX2-1 NK2 homeobox 1 gene DOID:9277 primary cerebellar degeneration ISO RGD:732483 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: Hereditary ataxia PMID:24453141|PMID:25741868|PMID:29109906 12350577 NKX2-1 NK2 homeobox 1 gene DOID:9538 multiple myeloma ISO RGD:732483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12350578 SRP68 signal recognition particle 68 gene DOID:37 skin disease ISO RGD:1313366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12350578 SRP68 signal recognition particle 68 gene DOID:630 genetic disease ISO RGD:1313366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350578 SRP68 signal recognition particle 68 gene DOID:9007964 Arsenic Poisoning ISO RGD:1313366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12350578 SRP68 signal recognition particle 68 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1313366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 12350598 MRPL14 mitochondrial ribosomal protein L14 gene DOID:630 genetic disease ISO RGD:1314744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350612 DENND10 DENN domain containing 10 gene DOID:630 genetic disease ISO RGD:1344685 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350646 LOC478196 proproteinase E gene DOID:0060369 Parkinson's disease 6 ISO RGD:1317234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12350646 LOC478196 proproteinase E gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1317234 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12350646 LOC478196 proproteinase E gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1317234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12350646 LOC478196 proproteinase E gene DOID:13316 exocrine pancreatic insufficiency ISO RGD:1317234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14687815 12350646 LOC478196 proproteinase E gene DOID:630 genetic disease ISO RGD:1317234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350646 LOC478196 proproteinase E gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1317234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12350658 METTL5 methyltransferase 5, N6-adenosine gene DOID:0080765 autosomal recessive intellectual developmental disorder 72 ISO RGD:1606016 D RGD:7240710 20191211 OMIM 12350658 METTL5 methyltransferase 5, N6-adenosine gene DOID:0080765 autosomal recessive intellectual developmental disorder 72 ISO RGD:1606016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 72 PMID:25741868|PMID:28492532|PMID:31130284|PMID:31564433 12350658 METTL5 methyltransferase 5, N6-adenosine gene DOID:1059 intellectual disability ISO RGD:1606016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:31564433 12350658 METTL5 methyltransferase 5, N6-adenosine gene DOID:630 genetic disease ISO RGD:1606016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350682 FNBP1 formin binding protein 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12350682 FNBP1 formin binding protein 1 gene DOID:630 genetic disease ISO RGD:1350700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350703 TAF9 TATA-box binding protein associated factor 9 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1314621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12350703 TAF9 TATA-box binding protein associated factor 9 gene DOID:630 genetic disease ISO RGD:1314621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350703 TAF9 TATA-box binding protein associated factor 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12350710 SLC39A7 solute carrier family 39 member 7 gene DOID:0050553 JMP syndrome ISO RGD:1344767 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12350710 SLC39A7 solute carrier family 39 member 7 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1344767 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 12350710 SLC39A7 solute carrier family 39 member 7 gene DOID:0081141 agammaglobulinemia 9 ISO RGD:1344767 D RGD:7240710 20220112 OMIM 12350710 SLC39A7 solute carrier family 39 member 7 gene DOID:0081141 agammaglobulinemia 9 ISO RGD:1344767 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 9, autosomal recessive PMID:28492532|PMID:30718914 12350710 SLC39A7 solute carrier family 39 member 7 gene DOID:630 genetic disease ISO RGD:1344767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12350728 SEMA4F ssemaphorin 4F gene DOID:1790 malignant mesothelioma ISO RGD:735857 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12350728 SEMA4F ssemaphorin 4F gene DOID:630 genetic disease ISO RGD:735857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350760 PTPMT1 protein tyrosine phosphatase mitochondrial 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1605594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12350760 PTPMT1 protein tyrosine phosphatase mitochondrial 1 gene DOID:1059 intellectual disability ISO RGD:1605594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12350760 PTPMT1 protein tyrosine phosphatase mitochondrial 1 gene DOID:630 genetic disease ISO RGD:1605594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350768 OXTR oxytocin receptor gene DOID:0050700 cardiomyopathy ISO RGD:736017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:09536092|PMID:11251997|PMID:11884389|PMID:14672715|PMID:15099591|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:18253147|PMID:18509671|PMID:19380584|PMID:19773168|PMID:22245016|PMID:22378279|PMID:22581547|PMID:22584458|PMID:22595201|PMID:23465283|PMID:23631430|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:24917393|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26404900|PMID:26467025|PMID:26498160|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27772553|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28810874|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30704477|PMID:30847666|PMID:31043699|PMID:31638414|PMID:31737537|PMID:9536092 12350768 OXTR oxytocin receptor gene DOID:0060041 autism spectrum disorder ISO RGD:736017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20832055 12350768 OXTR oxytocin receptor gene DOID:0060255 rippling muscle disease 2 ISO RGD:736017 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Caveolinopathy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1C | ClinVar Annotator: match by term: Rippling muscle disease 2 | ClinVar Annotator: match by term: Rippling muscle disease 2, autosomal recessive PMID:09536092|PMID:09537420|PMID:10227634|PMID:10464299|PMID:11001938|PMID:11251997|PMID:11431690|PMID:1146501|PMID:11884389|PMID:12666119|PMID:14600260|PMID:14663034|PMID:14672715|PMID:15580566|PMID:15668980|PMID:16247063|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17556197|PMID:17994539|PMID:18253147|PMID:18509671|PMID:18583131|PMID:19380584|PMID:19697367|PMID:19773168|PMID:20229577|PMID:20472890|PMID:21660982|PMID:22245016|PMID:22378279|PMID:22584458|PMID:22595201|PMID:22976939|PMID:23465283|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:25351510|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26947586|PMID:2705900|PMID:27184587|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28807458|PMID:28837624|PMID:28877744|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30704477|PMID:30847666|PMID:31043699|PMID:31638414|PMID:32419263|PMID:32528171|PMID:9536092|PMID:9537420 12350768 OXTR oxytocin receptor gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736017 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:14672715|PMID:15580566 12350768 OXTR oxytocin receptor gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736017 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:09536092|PMID:11251997|PMID:11884389|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:18509671|PMID:19380584|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26467025|PMID:26498160|PMID:27483260|PMID:27930701|PMID:28492532|PMID:28837624|PMID:29961767|PMID:30055862|PMID:9536092 12350768 OXTR oxytocin receptor gene DOID:0110644 long QT syndrome 1 ISO RGD:736017 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:09536092|PMID:11251997|PMID:11884389|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17556197|PMID:18253147|PMID:18509671|PMID:19380584|PMID:19773168|PMID:22245016|PMID:22378279|PMID:22584458|PMID:22595201|PMID:23465283|PMID:23631430|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:24917393|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26467025|PMID:26498160|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28810874|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30704477|PMID:30847666|PMID:31043699|PMID:31737537|PMID:9536092 12350768 OXTR oxytocin receptor gene DOID:0110650 long QT syndrome 9 ISO RGD:736017 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 9 | ClinVar Annotator: match by term: Long QT syndrome 9, acquired, susceptibility to PMID:09536092|PMID:11251997|PMID:11884389|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:18253147|PMID:18509671|PMID:19380584|PMID:19773168|PMID:22245016|PMID:22378279|PMID:22584458|PMID:22595201|PMID:23465283|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26467025|PMID:26498160|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28837624|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30704477|PMID:31043699|PMID:9536092 12350768 OXTR oxytocin receptor gene DOID:0111004 Joubert syndrome 9 ISO RGD:736017 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9 12350768 OXTR oxytocin receptor gene DOID:0111191 distal muscular dystrophy Tateyama type ISO RGD:736017 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal myopathy, Tateyama type PMID:09536092|PMID:11251997|PMID:11884389|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:18509671|PMID:19380584|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26467025|PMID:26498160|PMID:27483260|PMID:27930701|PMID:28492532|PMID:28837624|PMID:29961767|PMID:30055862|PMID:9536092 12350768 OXTR oxytocin receptor gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:736017 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:09536092|PMID:10227634|PMID:11001938|PMID:11251997|PMID:11431690|PMID:1146501|PMID:11884389|PMID:12666119|PMID:14663034|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17994539|PMID:18509671|PMID:18583131|PMID:19380584|PMID:20229577|PMID:20472890|PMID:21660982|PMID:22976939|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26947586|PMID:27483260|PMID:27930701|PMID:28492532|PMID:28807458|PMID:28837624|PMID:28877744|PMID:29961767|PMID:30055862|PMID:9536092 12350768 OXTR oxytocin receptor gene DOID:10763 hypertension ISO RGD:3239 D RGD:9068941 20200609 RGD mRNA:decreased expression:brainstem PMID:16157794|REF_RGD_ID:2304174 12350768 OXTR oxytocin receptor gene DOID:10808 gastric ulcer ISO RGD:3239 D RGD:9068941 20200609 RGD PMID:11764003|REF_RGD_ID:2304192 12350768 OXTR oxytocin receptor gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:736017 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:09536092|PMID:11251997|PMID:11884389|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17556197|PMID:18509671|PMID:19380584|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26467025|PMID:26498160|PMID:27483260|PMID:27930701|PMID:28492532|PMID:29961767|PMID:30055862|PMID:9536092 12350768 OXTR oxytocin receptor gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736017 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12350768 OXTR oxytocin receptor gene DOID:12849 autistic disorder ISO RGD:736017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15288368|PMID:15992526|PMID:17383819|PMID:17893705|PMID:18207134|PMID:21082655 12350768 OXTR oxytocin receptor gene DOID:1561 cognitive disorder ISO RGD:736017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20347913 12350768 OXTR oxytocin receptor gene DOID:2843 long QT syndrome ISO RGD:736017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:09536092|PMID:10227634|PMID:11001938|PMID:11251997|PMID:11431690|PMID:1146501|PMID:11884389|PMID:12666119|PMID:14647208|PMID:14672715|PMID:15099591|PMID:15580566|PMID:15668980|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17405141|PMID:17537631|PMID:17556197|PMID:17576681|PMID:17994539|PMID:18253147|PMID:18509671|PMID:18583131|PMID:19238754|PMID:19380584|PMID:19697367|PMID:19773168|PMID:20229577|PMID:20472890|PMID:21182936|PMID:21660982|PMID:22245016|PMID:22378279|PMID:22581547|PMID:22584458|PMID:22595201|PMID:22976939|PMID:23465283|PMID:23631430|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:24917393|PMID:25351510|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26947586|PMID:27184587|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27772553|PMID:27854218|PMID:27930701|PMID:28232187|PMID:28407228|PMID:28492532|PMID:28807458|PMID:28810874|PMID:28837624|PMID:28877744|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:29970176|PMID:30055862|PMID:30153853|PMID:30174172|PMID:30564623|PMID:30704477|PMID:30847666|PMID:31043699|PMID:31638414|PMID:31737537|PMID:32004987|PMID:32419263|PMID:32528171|PMID:9536092|PMID:9536098|PMID:9537420 12350768 OXTR oxytocin receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:736017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043644 12350768 OXTR oxytocin receptor gene DOID:5419 schizophrenia ISO RGD:736017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20196918 12350768 OXTR oxytocin receptor gene DOID:630 genetic disease ISO RGD:736017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350768 OXTR oxytocin receptor gene DOID:9002669 Hypoxia ISO RGD:3239 D RGD:9068941 20200609 RGD PMID:18655887|REF_RGD_ID:2304092 12350768 OXTR oxytocin receptor gene DOID:9003129 Chromosome 3, Monosomy 3p25 ISO RGD:736017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21082655 12350768 OXTR oxytocin receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12350768 OXTR oxytocin receptor gene DOID:9004730 Romano-Ward Syndrome ISO RGD:736017 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:17556197|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12350768 OXTR oxytocin receptor gene DOID:9007 sudden infant death syndrome ISO RGD:736017 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:12666119|PMID:15580566|PMID:25741868|PMID:28492532 12350768 OXTR oxytocin receptor gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:736017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12350797 HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:0060543 Hermansky-Pudlak syndrome 5 ISO RGD:1323623 D RGD:7240710 20180130 OMIM 12350797 HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:0060543 Hermansky-Pudlak syndrome 5 ISO RGD:1323623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5 PMID:12548288|PMID:15296495|PMID:21833017|PMID:22995991|PMID:23607980|PMID:24033266|PMID:24698632|PMID:25741868|PMID:26785811|PMID:28296950|PMID:28492532|PMID:28640947|PMID:31064749 12350797 HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1323623 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 12350797 HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:1059 intellectual disability ISO RGD:1323623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12350797 HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:1062 Fanconi syndrome ISO RGD:1323623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XI PMID:28492532 12350797 HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:2213 hemorrhagic disease ISO RGD:1323623 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:24033266|PMID:25741868|PMID:28492532 12350797 HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:2223 platelet storage pool deficiency ISO RGD:1323624 D RGD:9068941 20220825 MouseDO OMIM:185050 12350797 HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1323623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:12548288|PMID:15296495|PMID:16199547|PMID:21833017|PMID:23607980|PMID:24698632|PMID:25741868|PMID:26785811|PMID:28492532|PMID:28640947|PMID:31064749 12350797 HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:630 genetic disease ISO RGD:1323623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12350797 HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:9003665 Glycogen Storage Disease XI ISO RGD:1323623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lactate dehydrogenase deficiency type A PMID:28492532 12350840 TRIB3 tribbles pseudokinase 3 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1345491 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 12350840 TRIB3 tribbles pseudokinase 3 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1345491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 12350840 TRIB3 tribbles pseudokinase 3 gene DOID:630 genetic disease ISO RGD:1345491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350840 TRIB3 tribbles pseudokinase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12350840 TRIB3 tribbles pseudokinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12350840 TRIB3 tribbles pseudokinase 3 gene DOID:9006646 Metabolic Syndrome ISO RGD:1345491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18497449 12350840 TRIB3 tribbles pseudokinase 3 gene DOID:9007692 Insulin Resistance ISO RGD:1345491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20461355 12350851 PXMP2 peroxisomal membrane protein 2 gene DOID:630 genetic disease ISO RGD:1347054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350851 PXMP2 peroxisomal membrane protein 2 gene DOID:9256 colorectal cancer ISO RGD:1347054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 12350859 SMPD4 sphingomyelin phosphodiesterase 4 gene DOID:630 genetic disease ISO RGD:1604348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350859 SMPD4 sphingomyelin phosphodiesterase 4 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1604348 D RGD:7240710 20191113 OMIM 12350859 SMPD4 sphingomyelin phosphodiesterase 4 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1604348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies PMID:25741868|PMID:31495489 12350886 SLC36A2 solute carrier family 36 member 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1354285 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12350886 SLC36A2 solute carrier family 36 member 2 gene DOID:0112265 iminoglycinuria ISO RGD:1354285 D RGD:7240710 20180130 OMIM 12350886 SLC36A2 solute carrier family 36 member 2 gene DOID:0112265 iminoglycinuria ISO RGD:1354285 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Iminoglycinuria PMID:19033659|PMID:28492532 12350886 SLC36A2 solute carrier family 36 member 2 gene DOID:4795 GM2 Gangliosidosis, AB variant ISO RGD:1354285 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease, variant AB PMID:28492532 12350886 SLC36A2 solute carrier family 36 member 2 gene DOID:630 genetic disease ISO RGD:1354285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350886 SLC36A2 solute carrier family 36 member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354285 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12350886 SLC36A2 solute carrier family 36 member 2 gene DOID:9008487 Glycinuria with or without Oxalate Urolithiasis ISO RGD:1354285 D RGD:7240710 20180130 OMIM 12350886 SLC36A2 solute carrier family 36 member 2 gene DOID:9008487 Glycinuria with or without Oxalate Urolithiasis ISO RGD:1354285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperglycinuria PMID:19033659|PMID:25741868|PMID:28492532 12350900 ODF2L outer dense fiber of sperm tails 2 like gene DOID:630 genetic disease ISO RGD:1606519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350950 RNASEL ribonuclease L gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1346643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12350950 RNASEL ribonuclease L gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:15670795|REF_RGD_ID:40902819 12350950 RNASEL ribonuclease L gene DOID:10283 prostate cancer ISO RGD:1346643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer, susceptibility to PMID:11799394|PMID:12415269|PMID:16609730|PMID:28492532 12350950 RNASEL ribonuclease L gene DOID:1540 parathyroid carcinoma ISO RGD:1346643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12350950 RNASEL ribonuclease L gene DOID:1612 breast cancer no_association ISO RGD:1346643 D RGD:9068941 20200609 RGD DNA:substitution:G1385A PMID:15330212|REF_RGD_ID:2291997 12350950 RNASEL ribonuclease L gene DOID:2043 hepatitis B ISO RGD:1553469 D RGD:9068941 20201218 RGD PMID:11861827|REF_RGD_ID:40902828 12350950 RNASEL ribonuclease L gene DOID:234 colon adenocarcinoma severity ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:23567782|REF_RGD_ID:40902808 12350950 RNASEL ribonuclease L gene DOID:2365 West Nile encephalitis disease_progression ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:16809306|REF_RGD_ID:40902815 12350950 RNASEL ribonuclease L gene DOID:2394 ovarian cancer ISO RGD:1346643 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 12350950 RNASEL ribonuclease L gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:23913960|REF_RGD_ID:40902622 12350950 RNASEL ribonuclease L gene DOID:3298 vaccinia severity ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:11967338|REF_RGD_ID:40902818 12350950 RNASEL ribonuclease L gene DOID:3298 vaccinia susceptibility ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:20943971|REF_RGD_ID:40902816 12350950 RNASEL ribonuclease L gene DOID:3883 Lynch syndrome onset ISO RGD:1346643 D RGD:9068941 20200609 RGD DNA:substitution:cds:amino acid R462G PMID:16054567|REF_RGD_ID:2292000 12350950 RNASEL ribonuclease L gene DOID:630 genetic disease ISO RGD:1346643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350950 RNASEL ribonuclease L gene DOID:7427 anthrax disease severity ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:19075243|REF_RGD_ID:40902812 12350950 RNASEL ribonuclease L gene DOID:8469 influenza ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:23913960|REF_RGD_ID:40902622 12350950 RNASEL ribonuclease L gene DOID:8704 genital herpes severity ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:17157346|REF_RGD_ID:40902623 12350950 RNASEL ribonuclease L gene DOID:9000099 Experimental Colitis severity ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:23567782|REF_RGD_ID:40902808 12350950 RNASEL ribonuclease L gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12350950 RNASEL ribonuclease L gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16114055|PMID:17020975|PMID:27318894 12350950 RNASEL ribonuclease L gene DOID:9002953 Escherichia Coli Infections severity ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:19075243|REF_RGD_ID:40902812 12350950 RNASEL ribonuclease L gene DOID:9004531 Cardiovirus Infections ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:21636578|REF_RGD_ID:40902809 12350950 RNASEL ribonuclease L gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:1346643 D RGD:7240710 20190213 OMIM 12350950 RNASEL ribonuclease L gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:1346643 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 PMID:11799394|PMID:12415269|PMID:16609730|PMID:25741868|PMID:28492532 12350950 RNASEL ribonuclease L gene DOID:9005539 Familial Prostate Cancer ISO RGD:1346643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12350950 RNASEL ribonuclease L gene DOID:9006623 Murine Acquired Immunodeficiency Syndrome ISO RGD:1553469 D RGD:9068941 20201211 RGD associated with Arterivirus Infections PMID:23725696|REF_RGD_ID:40902617 12350950 RNASEL ribonuclease L gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1346643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12350950 RNASEL ribonuclease L gene DOID:9007899 Animal Viral Hepatitis ISO RGD:1553469 D RGD:9068941 20201211 RGD associated with Middle East respiratory syndrome PMID:27025250|REF_RGD_ID:40902807 12350950 RNASEL ribonuclease L gene DOID:9007899 Animal Viral Hepatitis disease_progression ISO RGD:1553469 D RGD:9068941 20201211 RGD associated with Coronaviridae Infections PMID:28003490|REF_RGD_ID:40902624 12350950 RNASEL ribonuclease L gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12350983 ACOT6 acyl-CoA thioesterase 6 gene DOID:1059 intellectual disability ISO RGD:1605691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12350983 ACOT6 acyl-CoA thioesterase 6 gene DOID:630 genetic disease ISO RGD:1605691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12350983 ACOT6 acyl-CoA thioesterase 6 gene DOID:9003936 Cardiomegaly ISO RGD:621055 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart (rat) PMID:15292030|REF_RGD_ID:2315862 12350983 ACOT6 acyl-CoA thioesterase 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621055 D RGD:9068941 20200609 RGD protein:increased expression:heart, mitochondrion (rat) PMID:17438340|REF_RGD_ID:2315861 12350983 ACOT6 acyl-CoA thioesterase 6 gene DOID:9007102 Myocardial Ischemia ISO RGD:1605691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12350983 ACOT6 acyl-CoA thioesterase 6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:621055 D RGD:9068941 20200609 RGD PMID:16979414|REF_RGD_ID:1625728 12350994 AOC2 amine oxidase copper containing 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1344698 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12350994 AOC2 amine oxidase copper containing 2 gene DOID:630 genetic disease ISO RGD:1344698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351002 PNPLA4 patatin like phospholipase domain containing 4 gene DOID:12849 autistic disorder ISO RGD:1346226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12351002 PNPLA4 patatin like phospholipase domain containing 4 gene DOID:13938 amenorrhea ISO RGD:1346226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12351002 PNPLA4 patatin like phospholipase domain containing 4 gene DOID:1700 X-linked ichthyosis ISO RGD:1346226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recessive X-linked ichthyosis PMID:18413370|PMID:3007328|PMID:7208152 12351002 PNPLA4 patatin like phospholipase domain containing 4 gene DOID:1969 cerebral palsy ISO RGD:1346226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12351002 PNPLA4 patatin like phospholipase domain containing 4 gene DOID:5419 schizophrenia ISO RGD:1346226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12351002 PNPLA4 patatin like phospholipase domain containing 4 gene DOID:543 dystonia ISO RGD:1346226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12351002 PNPLA4 patatin like phospholipase domain containing 4 gene DOID:630 genetic disease ISO RGD:1346226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351002 PNPLA4 patatin like phospholipase domain containing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:0040084 Streptococcus pneumonia exacerbates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:33625952|REF_RGD_ID:127229925 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1342902 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:0080160 cytomegalovirus retinitis ISO RGD:734463 D RGD:9068941 20210604 RGD protein:increased expression:optic cup, retina (mouse) PMID:29853772|REF_RGD_ID:127229940 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1342902 D RGD:9068941 20210604 RGD mRNA:increased expression:liver (human) PMID:21425308|REF_RGD_ID:127229938 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:10584 retinitis pigmentosa ISO RGD:734463 D RGD:9068941 20200609 RGD PMID:22908283|REF_RGD_ID:7777166 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:10844 Japanese encephalitis ameliorates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:32265853|REF_RGD_ID:127229907 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1342902 D RGD:9068941 20210604 RGD associated with avian influenza;mRNA, protein:increased expression, increased phosphorylation:lung (human) PMID:31080811|REF_RGD_ID:127229928 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:11573 listeriosis exacerbates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:30975711|REF_RGD_ID:127229912 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:1273 respiratory syncytial virus infectious disease ameliorates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:33303545|REF_RGD_ID:127229923 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:1508 candidiasis exacerbates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:30944411|REF_RGD_ID:127229913 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:182 calcinosis ISO RGD:1342902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:2723 dermatitis ISO RGD:734463 D RGD:9068941 20200609 RGD PMID:22000287|REF_RGD_ID:7777169 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:3298 vaccinia exacerbates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:19524513|REF_RGD_ID:127229939 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:399 tuberculosis exacerbates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:29892302|REF_RGD_ID:127229926 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:4079 heart valve disease ISO RGD:1342902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:4492 avian influenza ameliorates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:28423682|REF_RGD_ID:127229942 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:630 genetic disease ISO RGD:1342902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:824 periodontitis treatment ISO RGD:734463 D RGD:9068941 20210604 RGD associated with Gram-Negative Bacterial Infections PMID:31758083|REF_RGD_ID:127229920 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:8466 retinal degeneration ISO RGD:734463 D RGD:9068941 20200609 RGD PMID:23954861|REF_RGD_ID:7777167 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:8566 herpes simplex exacerbates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:25316792|PMID:30050136|REF_RGD_ID:127229943|REF_RGD_ID:40902865 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:874 bacterial pneumonia ameliorates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:28387756|REF_RGD_ID:127229944 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9000238 Acute-On-Chronic Liver Failure exacerbates ISO RGD:1342902 D RGD:9068941 20210604 RGD associated with Chronic Hepatitis B;mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:30996211|REF_RGD_ID:127229914 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1342902 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9000371 influenza A exacerbates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:27321907|PMID:32200799|REF_RGD_ID:127229911|REF_RGD_ID:127229922 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9000371 influenza A susceptibility ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:28410401|REF_RGD_ID:127229918 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9001004 Chronic Periodontitis ISO RGD:1342902 D RGD:9068941 20210604 RGD protein:increased expression,'increased phosphorylation:gingiva (human) PMID:30814594|REF_RGD_ID:127229937 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9001049 Staphylococcal Pneumonia treatment ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:25445964|REF_RGD_ID:127229910 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9001415 Mycobacterium Infections ameliorates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:28401933|REF_RGD_ID:127229921 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9002834 Herpesviridae Infections ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:31985117|REF_RGD_ID:127229917 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9004379 Vesicular Stomatitis ameliorates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:25326752|REF_RGD_ID:127229916 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9004484 Sepsis ameliorates ISO RGD:1332101 D RGD:9068941 20210604 RGD PMID:32152555|REF_RGD_ID:127229919 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9004484 Sepsis ameliorates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:22195746|REF_RGD_ID:127229909 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9004484 Sepsis no_association ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:23835476|REF_RGD_ID:127229908 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1342902 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9005966 Staphylococcal Skin Infections ameliorates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:27524612|REF_RGD_ID:127229915 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9006262 Cytomegalovirus Infections severity ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:29847649|REF_RGD_ID:127229927 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342902 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26769846 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734463 D RGD:9068941 20210604 RGD protein:increased expression:liver (mouse) PMID:28205631|REF_RGD_ID:127229945 12351025 RIPK3 receptor interacting serine/threonine kinase 3 gene DOID:9452 fatty liver disease ISO RGD:1342902 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26769846 12351048 TOMM6 translocase of outer mitochondrial membrane 6 gene DOID:0050444 infantile Refsum disease ISO RGD:2300132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12351048 TOMM6 translocase of outer mitochondrial membrane 6 gene DOID:630 genetic disease ISO RGD:2300132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351048 TOMM6 translocase of outer mitochondrial membrane 6 gene DOID:905 Zellweger syndrome ISO RGD:2300132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12351058 SRRM2 serine/arginine repetitive matrix 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1320904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12351058 SRRM2 serine/arginine repetitive matrix 2 gene DOID:14330 Parkinson's disease ISO RGD:1320904 D RGD:9068941 20200609 RGD mRNA:splice variants:substantia nigra, amygdala, peripheral blood mononuclear cell (human) PMID:20161708|REF_RGD_ID:11038728 12351058 SRRM2 serine/arginine repetitive matrix 2 gene DOID:1826 epilepsy ISO RGD:1320904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12351058 SRRM2 serine/arginine repetitive matrix 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1320904 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12351058 SRRM2 serine/arginine repetitive matrix 2 gene DOID:630 genetic disease ISO RGD:1320904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351058 SRRM2 serine/arginine repetitive matrix 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12351114 LEAP2 liver enriched antimicrobial peptide 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601831 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12351114 LEAP2 liver enriched antimicrobial peptide 2 gene DOID:630 genetic disease ISO RGD:1601831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351114 LEAP2 liver enriched antimicrobial peptide 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12351114 LEAP2 liver enriched antimicrobial peptide 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601831 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12351121 C10H2orf49 chromosome 10 C2orf49 homolog gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1604297 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy 12351121 C10H2orf49 chromosome 10 C2orf49 homolog gene DOID:0050700 cardiomyopathy ISO RGD:1604297 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 12351121 C10H2orf49 chromosome 10 C2orf49 homolog gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1604297 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 12351121 C10H2orf49 chromosome 10 C2orf49 homolog gene DOID:12642 hiatus hernia ISO RGD:1604297 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hiatus hernia PMID:25741868 12351121 C10H2orf49 chromosome 10 C2orf49 homolog gene DOID:12930 dilated cardiomyopathy ISO RGD:1604297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:24033266|PMID:25358972|PMID:25741868|PMID:27532257|PMID:28166811|PMID:28492532|PMID:31333075|PMID:31568572|PMID:9536098 12351121 C10H2orf49 chromosome 10 C2orf49 homolog gene DOID:630 genetic disease ISO RGD:1604297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12351121 C10H2orf49 chromosome 10 C2orf49 homolog gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1604297 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 12351132 MCOLN1 mucolipin TRP cation channel 1 gene DOID:0080488 mucolipidosis ISO RGD:1319026 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mucolipidosis PMID:10441585|PMID:10973263|PMID:11013137|PMID:11030752|PMID:11317355|PMID:11551108|PMID:11845410|PMID:15523648|PMID:16287144|PMID:16645217|PMID:17384215|PMID:19815695|PMID:23555759|PMID:24033266|PMID:25741868|PMID:28492532 12351132 MCOLN1 mucolipin TRP cation channel 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1319026 D RGD:7240710 20190227 OMIM 12351132 MCOLN1 mucolipin TRP cation channel 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1319026 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:10441585|PMID:10973263|PMID:11013137|PMID:11030752|PMID:11317355|PMID:11551108|PMID:11845410|PMID:12125810|PMID:12182165|PMID:14749347|PMID:15178326|PMID:15523648|PMID:16199547|PMID:16257972|PMID:16287144|PMID:16645217|PMID:16978393|PMID:17239335|PMID:17306511|PMID:17384215|PMID:17576681|PMID:18326692|PMID:18794901|PMID:19815695|PMID:20159435|PMID:21763169|PMID:22268962|PMID:22281206|PMID:23555759|PMID:24033266|PMID:25119295|PMID:25465891|PMID:25741868|PMID:25933391|PMID:26467025|PMID:27670435|PMID:28112729|PMID:28492532|PMID:28604674|PMID:28936784|PMID:29019983|PMID:30120981|PMID:31578829|PMID:31618753|PMID:31899079|PMID:32214227|PMID:32860008|PMID:33454187|PMID:33963976|PMID:35425852|PMID:9536098 12351132 MCOLN1 mucolipin TRP cation channel 1 gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1319026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 PMID:25741868|PMID:26467025|PMID:28492532 12351132 MCOLN1 mucolipin TRP cation channel 1 gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:1319026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A PMID:25741868 12351132 MCOLN1 mucolipin TRP cation channel 1 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1319026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 12351132 MCOLN1 mucolipin TRP cation channel 1 gene DOID:0111265 Boucher-Neuhauser syndrome ISO RGD:1319026 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome PMID:25741868|PMID:26467025|PMID:28492532 12351132 MCOLN1 mucolipin TRP cation channel 1 gene DOID:1059 intellectual disability ISO RGD:1319026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities 12351132 MCOLN1 mucolipin TRP cation channel 1 gene DOID:13088 periventricular leukomalacia ISO RGD:1319026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periventricular leukomalacia 12351132 MCOLN1 mucolipin TRP cation channel 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1319026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:25741868|PMID:26467025|PMID:28492532 12351132 MCOLN1 mucolipin TRP cation channel 1 gene DOID:3343 glycoproteinosis ISO RGD:1319026 D RGD:9068941 20200609 RGD PMID:10973263|REF_RGD_ID:1599926 12351132 MCOLN1 mucolipin TRP cation channel 1 gene DOID:630 genetic disease ISO RGD:1319026 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10973263|PMID:11030752|PMID:11317355|PMID:14749347|PMID:15178326|PMID:16978393|PMID:17239335|PMID:17576681|PMID:18326692|PMID:18794901|PMID:21763169|PMID:25119295|PMID:25741868|PMID:25933391|PMID:27670435|PMID:28492532|PMID:31618753|PMID:31899079|PMID:9536098 12351132 MCOLN1 mucolipin TRP cation channel 1 gene DOID:9006257 Growth Disorders ISO RGD:1319026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation 12351132 MCOLN1 mucolipin TRP cation channel 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1319026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12351132 MCOLN1 mucolipin TRP cation channel 1 gene DOID:9008606 Corneal Opacity ISO RGD:1319026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal opacity 12351150 TNNI3K TNNI3 interacting kinase gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1345235 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 PMID:25741868 12351150 TNNI3K TNNI3 interacting kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:1345235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 12351150 TNNI3K TNNI3 interacting kinase gene DOID:630 genetic disease ISO RGD:1345235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12351150 TNNI3K TNNI3 interacting kinase gene DOID:9000652 Cardiac Conduction Disease with or without Dilated Cardiomyopathy ISO RGD:1345235 D RGD:7240710 20201202 OMIM 12351150 TNNI3K TNNI3 interacting kinase gene DOID:9000652 Cardiac Conduction Disease with or without Dilated Cardiomyopathy ISO RGD:1345235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy PMID:24925317|PMID:25741868|PMID:25791106|PMID:28492532|PMID:29355681|PMID:30010057|PMID:31589606|PMID:34203974 12351201 NUDT19 nudix hydrolase 19 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1602031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12351201 NUDT19 nudix hydrolase 19 gene DOID:630 genetic disease ISO RGD:1602031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351212 CSN3 casein kappa gene DOID:305 carcinoma ISO RGD:1349233 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12351212 CSN3 casein kappa gene DOID:630 genetic disease ISO RGD:1349233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351212 CSN3 casein kappa gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1349233 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12351212 CSN3 casein kappa gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1349233 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12351212 CSN3 casein kappa gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1349233 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12351212 CSN3 casein kappa gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:61990 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 12351224 KRTAP8-1 keratin associated protein 8-1 gene DOID:630 genetic disease ISO RGD:1354331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351230 C17H2orf71 photoreceptor cilium actin regulator gene DOID:0110364 retinitis pigmentosa 54 IAGP D RGD:12801476 20210603 OMIA Rod-cone dysplasia 4 PMID:21493523|PMID:22065099|PMID:22686255|PMID:26009980|PMID:24255994|PMID:29624701|PMID:30650096 12351230 PCARE photoreceptor cilium actin regulator gene DOID:0050572 cone-rod dystrophy ISO RGD:2298744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:20398886|PMID:24339724|PMID:26496393|PMID:28492532|PMID:28763557 12351230 PCARE photoreceptor cilium actin regulator gene DOID:0050817 Stargardt disease ISO RGD:2298744 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:20398884|PMID:20398886|PMID:24339724|PMID:26496393|PMID:28492532|PMID:32312818|PMID:4543597 12351230 PCARE photoreceptor cilium actin regulator gene DOID:0110364 retinitis pigmentosa 54 ISO RGD:2298744 D RGD:7240710 20180130 OMIM 12351230 PCARE photoreceptor cilium actin regulator gene DOID:0110364 retinitis pigmentosa 54 ISO RGD:2298744 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 23 | ClinVar Annotator: match by term: Retinitis pigmentosa 54 PMID:20398884|PMID:20398886|PMID:20811058|PMID:21412943|PMID:24339724|PMID:25741868|PMID:26496393|PMID:27353947|PMID:28041643|PMID:28492532|PMID:28763557|PMID:31725702|PMID:31819343|PMID:31872526|PMID:32312818|PMID:33546218|PMID:33576794|PMID:4543597 12351230 PCARE photoreceptor cilium actin regulator gene DOID:10584 retinitis pigmentosa ISO RGD:2298744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20398884|PMID:20398886|PMID:20811058|PMID:21412943|PMID:23105016|PMID:24339724|PMID:24780881|PMID:25741868|PMID:26306921|PMID:26496393|PMID:26497376|PMID:27353947|PMID:28041643|PMID:28492532|PMID:28763557|PMID:30054919|PMID:30718709|PMID:31725702|PMID:33546218 12351230 PCARE photoreceptor cilium actin regulator gene DOID:8501 fundus dystrophy ISO RGD:2298744 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20398886|PMID:21412943|PMID:23105016|PMID:24339724|PMID:25741868|PMID:26496393|PMID:27353947|PMID:28041643|PMID:28492532|PMID:28763557|PMID:33546218|PMID:33576794 12351230 PCARE photoreceptor cilium actin regulator gene DOID:9009095 Neuroblastoma 3 ISO RGD:2298744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 PMID:28492532 12351240 HCRTR1 hypocretin receptor 1 gene DOID:0060001 withdrawal disorder ISO RGD:734418 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20667500 12351240 HCRTR1 hypocretin receptor 1 gene DOID:630 genetic disease ISO RGD:734418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351240 HCRTR1 hypocretin receptor 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:734418 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16357203|PMID:19591850|PMID:19741128 12351252 TMEM184A transmembrane protein 184A gene DOID:630 genetic disease ISO RGD:1603256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351271 INHBE inhibin subunit beta E gene DOID:630 genetic disease ISO RGD:737308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351271 INHBE inhibin subunit beta E gene DOID:6846 familial melanoma ISO RGD:737308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 12351271 INHBE inhibin subunit beta E gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 12351271 INHBE inhibin subunit beta E gene DOID:9455 lipid storage disease ISO RGD:737308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17175557 12351294 NAT9 N-acetyltransferase 9 (putative) gene DOID:630 genetic disease ISO RGD:1606805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351390 CELA1 chymotrypsin like elastase 1 gene DOID:630 genetic disease ISO RGD:736392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351390 CELA1 chymotrypsin like elastase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 12351390 CELA1 chymotrypsin like elastase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12351402 CIMIP2C ciliary microtubule inner protein 2C gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:2298820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12351410 CLK3 CDC like kinase 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:733625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12351410 CLK3 CDC like kinase 3 gene DOID:2717 Bloom syndrome ISO RGD:733625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12351410 CLK3 CDC like kinase 3 gene DOID:5419 schizophrenia ISO RGD:733625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12351410 CLK3 CDC like kinase 3 gene DOID:630 genetic disease ISO RGD:733625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351410 CLK3 CDC like kinase 3 gene DOID:9256 colorectal cancer ISO RGD:733625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12351433 TARS3 threonyl-tRNA synthetase 3 gene DOID:630 genetic disease ISO RGD:1351710 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351456 EFCAB7 EF-hand calcium binding domain 7 gene DOID:1059 intellectual disability ISO RGD:1603602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12351456 EFCAB7 EF-hand calcium binding domain 7 gene DOID:630 genetic disease ISO RGD:1603602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351479 DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 gene DOID:11720 distal myopathy ISO RGD:1314093 D RGD:9068941 20230330 MouseDO 12351479 DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 gene DOID:630 genetic disease ISO RGD:1314092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351479 DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 gene DOID:9001370 Congenital Myopathy 21 with Early Respiratory Failure ISO RGD:1314092 D RGD:7240710 20230505 OMIM 12351479 DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 gene DOID:9001370 Congenital Myopathy 21 with Early Respiratory Failure ISO RGD:1314092 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital myopathy 21 with early respiratory failure PMID:36264506|PMID:36344539 12351490 AHCTF1 AT-hook containing transcription factor 1 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1603679 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12351490 AHCTF1 AT-hook containing transcription factor 1 gene DOID:1059 intellectual disability ISO RGD:1603679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities 12351490 AHCTF1 AT-hook containing transcription factor 1 gene DOID:13938 amenorrhea ISO RGD:1603679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12351490 AHCTF1 AT-hook containing transcription factor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1603679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12351490 AHCTF1 AT-hook containing transcription factor 1 gene DOID:540 strabismus ISO RGD:1603679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Strabismus 12351490 AHCTF1 AT-hook containing transcription factor 1 gene DOID:630 genetic disease ISO RGD:1603679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351490 AHCTF1 AT-hook containing transcription factor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12351543 TGFBI transforming growth factor beta induced gene DOID:0060441 epithelial-stromal TGFBI dystrophy ISO RGD:1351420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epithelial-stromal TGFBI dystrophy PMID:10798644|PMID:11923233|PMID:23559853|PMID:25741868|PMID:28492532|PMID:9054935|PMID:9463327|PMID:9559741 12351543 TGFBI transforming growth factor beta induced gene DOID:0060444 granular corneal dystrophy 2 ISO RGD:1351420 D RGD:7240710 20180130 OMIM 12351543 TGFBI transforming growth factor beta induced gene DOID:0060444 granular corneal dystrophy 2 ISO RGD:1351420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Avellino corneal dystrophy | ClinVar Annotator: match by term: Granular corneal dystrophy type 2 PMID:10798644|PMID:11923233|PMID:15059726|PMID:16606891|PMID:23559853|PMID:25741868|PMID:26197481|PMID:28492532|PMID:34097874|PMID:9054935|PMID:9780098|PMID:9930165 12351543 TGFBI transforming growth factor beta induced gene DOID:0060447 epithelial basement membrane dystrophy ISO RGD:1351420 D RGD:7240710 20180130 OMIM 12351543 TGFBI transforming growth factor beta induced gene DOID:0060447 epithelial basement membrane dystrophy ISO RGD:1351420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epithelial basement membrane dystrophy PMID:16652336|PMID:19337156|PMID:25525159|PMID:28492532 12351543 TGFBI transforming growth factor beta induced gene DOID:0060453 Reis-Bucklers corneal dystrophy ISO RGD:1351420 D RGD:7240710 20180130 OMIM 12351543 TGFBI transforming growth factor beta induced gene DOID:0060453 Reis-Bucklers corneal dystrophy ISO RGD:1351420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Reis Bucklers dystrophy PMID:10660331|PMID:11146721|PMID:15885785|PMID:16606891|PMID:9780098|PMID:9930165 12351543 TGFBI transforming growth factor beta induced gene DOID:0060455 Thiel-Behnke corneal dystrophy ISO RGD:1351420 D RGD:7240710 20180130 OMIM 12351543 TGFBI transforming growth factor beta induced gene DOID:0060455 Thiel-Behnke corneal dystrophy ISO RGD:1351420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thiel-Behnke corneal dystrophy PMID:11923233|PMID:21135107|PMID:22355247|PMID:25741868|PMID:28492532|PMID:9054935|PMID:9780098 12351543 TGFBI transforming growth factor beta induced gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1351420 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12351543 TGFBI transforming growth factor beta induced gene DOID:0080530 granular corneal dystrophy 1 ISO RGD:1351420 D RGD:7240710 20180130 OMIM 12351543 TGFBI transforming growth factor beta induced gene DOID:0080530 granular corneal dystrophy 1 ISO RGD:1351420 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Groenouw corneal dystrophy type I PMID:11923233|PMID:25741868|PMID:9054935|PMID:9727509 12351543 TGFBI transforming growth factor beta induced gene DOID:12318 granular corneal dystrophy ISO RGD:1351420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granular corneal dystrophy 12351543 TGFBI transforming growth factor beta induced gene DOID:2566 corneal dystrophy ISO RGD:1351420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Corneal Dystrophy, Dominant | ClinVar Annotator: match by term: Corneal dystrophy PMID:10832717|PMID:11004271|PMID:11024425|PMID:11923233|PMID:12400061|PMID:15177960|PMID:16652336|PMID:16670477|PMID:16809844|PMID:19303004|PMID:19337156|PMID:21462384|PMID:21617751|PMID:21744490|PMID:23884333|PMID:24406863|PMID:24940934|PMID:25284770|PMID:25525159|PMID:25741868|PMID:25932442|PMID:26748743|PMID:26961680|PMID:28492532|PMID:9497262 12351543 TGFBI transforming growth factor beta induced gene DOID:557 kidney disease ISO RGD:620017 D RGD:9068941 20200609 RGD chronic cyclosporin A-induced nephropathy PMID:16308546|REF_RGD_ID:1599389 12351543 TGFBI transforming growth factor beta induced gene DOID:630 genetic disease ISO RGD:1351420 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12351543 TGFBI transforming growth factor beta induced gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351420 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18682491 12351543 TGFBI transforming growth factor beta induced gene DOID:9002165 Diabetic Nephropathies ISO RGD:620017 D RGD:9068941 20200609 RGD PMID:12911551|REF_RGD_ID:1304421 12351543 TGFBI transforming growth factor beta induced gene DOID:9003281 Spontaneous Abortions ISO RGD:1351420 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12351543 TGFBI transforming growth factor beta induced gene DOID:9004303 Tubulointerstitial Fibrosis ISO RGD:620017 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:15007308|REF_RGD_ID:1304308 12351543 TGFBI transforming growth factor beta induced gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12351543 TGFBI transforming growth factor beta induced gene DOID:9004484 Sepsis ISO RGD:1351420 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27887929 12351543 TGFBI transforming growth factor beta induced gene DOID:9006242 Lattice Corneal Dystrophy, Type IIIA ISO RGD:1351420 D RGD:7240710 20180130 OMIM 12351543 TGFBI transforming growth factor beta induced gene DOID:9006242 Lattice Corneal Dystrophy, Type IIIA ISO RGD:1351420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, lattice type 3A PMID:10832717|PMID:11004271|PMID:11024425|PMID:11923233|PMID:12400061|PMID:15790870|PMID:16809844|PMID:19337156|PMID:21462384|PMID:23884333|PMID:25741868|PMID:26748743|PMID:28492532|PMID:9054935|PMID:9497262|PMID:9727509 12351543 TGFBI transforming growth factor beta induced gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1351420 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12351543 TGFBI transforming growth factor beta induced gene DOID:9008869 Lattice Corneal Dystrophy Type 1 ISO RGD:1351420 D RGD:7240710 20180130 OMIM 12351543 TGFBI transforming growth factor beta induced gene DOID:9008869 Lattice Corneal Dystrophy Type 1 ISO RGD:1351420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lattice corneal dystrophy Type I PMID:10798644|PMID:11923233|PMID:15059726|PMID:23559853|PMID:25741868|PMID:26197481|PMID:28492532|PMID:34097874|PMID:9054935|PMID:9463327|PMID:9559741|PMID:9727509 12351563 MAPK15 mitogen-activated protein kinase 15 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1604966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12351563 MAPK15 mitogen-activated protein kinase 15 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1604966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12351563 MAPK15 mitogen-activated protein kinase 15 gene DOID:11054 urinary bladder cancer ISO RGD:1604966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 12351563 MAPK15 mitogen-activated protein kinase 15 gene DOID:1612 breast cancer disease_progression ISO RGD:1604966 D RGD:9068941 20200609 RGD protein:decreased expression:tumor (human) PMID:12917323|REF_RGD_ID:2304230 12351563 MAPK15 mitogen-activated protein kinase 15 gene DOID:4621 holoprosencephaly ISO RGD:1604966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12351563 MAPK15 mitogen-activated protein kinase 15 gene DOID:630 genetic disease ISO RGD:1604966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351587 SDK2 sidekick cell adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1321280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351635 CCNT1 cyclin T1 gene DOID:6000 congestive heart failure ISO RGD:1322458 D RGD:9068941 20200609 RGD PMID:15297879|REF_RGD_ID:1556509 12351635 CCNT1 cyclin T1 gene DOID:630 genetic disease ISO RGD:1322457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351635 CCNT1 cyclin T1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1311151 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver: PMID:20828602|REF_RGD_ID:9698426 12351652 ZSCAN2 zinc finger and SCAN domain containing 2 gene DOID:10283 prostate cancer ISO RGD:1606268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12351652 ZSCAN2 zinc finger and SCAN domain containing 2 gene DOID:2717 Bloom syndrome ISO RGD:1606268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12351652 ZSCAN2 zinc finger and SCAN domain containing 2 gene DOID:630 genetic disease ISO RGD:1606268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351652 ZSCAN2 zinc finger and SCAN domain containing 2 gene DOID:9256 colorectal cancer ISO RGD:1606268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12351664 MRPS23 mitochondrial ribosomal protein S23 gene DOID:0050777 Joubert syndrome ISO RGD:1315875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12351664 MRPS23 mitochondrial ribosomal protein S23 gene DOID:0112115 combined oxidative phosphorylation deficiency 46 ISO RGD:1315875 D RGD:7240710 20200812 OMIM 12351664 MRPS23 mitochondrial ribosomal protein S23 gene DOID:0112115 combined oxidative phosphorylation deficiency 46 ISO RGD:1315875 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 46 PMID:25741868|PMID:26741492 12351664 MRPS23 mitochondrial ribosomal protein S23 gene DOID:1059 intellectual disability ISO RGD:1315875 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12351664 MRPS23 mitochondrial ribosomal protein S23 gene DOID:630 genetic disease ISO RGD:1315875 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26741492|PMID:28492532 12351664 MRPS23 mitochondrial ribosomal protein S23 gene DOID:9008939 Breast Neoplasms ISO RGD:1315875 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 12351673 ZFAND2B zinc finger AN1-type containing 2B gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1602437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12351673 ZFAND2B zinc finger AN1-type containing 2B gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1602437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12351673 ZFAND2B zinc finger AN1-type containing 2B gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1602437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12351673 ZFAND2B zinc finger AN1-type containing 2B gene DOID:1148 polydactyly ISO RGD:1602437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 12351673 ZFAND2B zinc finger AN1-type containing 2B gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1602437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12351673 ZFAND2B zinc finger AN1-type containing 2B gene DOID:630 genetic disease ISO RGD:1602437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351673 ZFAND2B zinc finger AN1-type containing 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12351684 EMX2 empty spiracles homeobox 2 gene DOID:0050861 colorectal adenocarcinoma exacerbates ISO RGD:1322367 D RGD:9068941 20220811 RGD mRNA:decreased expression:colorectal mucosa (human) PMID:28830374|REF_RGD_ID:153323301 12351684 EMX2 empty spiracles homeobox 2 gene DOID:10534 stomach cancer ameliorates ISO RGD:1322367 D RGD:9068941 20220811 RGD human cells in mouse model PMID:23029345|REF_RGD_ID:153323292 12351684 EMX2 empty spiracles homeobox 2 gene DOID:1826 epilepsy ISO RGD:1322367 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12351684 EMX2 empty spiracles homeobox 2 gene DOID:3907 lung squamous cell carcinoma exacerbates ISO RGD:1322367 D RGD:9068941 20220812 RGD protein:decreased expression:lung (human) PMID:26132438|REF_RGD_ID:11079903 12351684 EMX2 empty spiracles homeobox 2 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1322367 D RGD:9068941 20220812 RGD mRNA,protein:decreased expression:lung (human) PMID:21726823|REF_RGD_ID:153323303 12351684 EMX2 empty spiracles homeobox 2 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1322367 D RGD:9068941 20220812 RGD protein:decreased expression:esophagus (human) PMID:31432154|REF_RGD_ID:153323302 12351684 EMX2 empty spiracles homeobox 2 gene DOID:630 genetic disease ISO RGD:1322367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351684 EMX2 empty spiracles homeobox 2 gene DOID:7474 malignant pleural mesothelioma exacerbates ISO RGD:1322367 D RGD:9068941 20220812 RGD mRNA:decreased expression:mesothelium of pleural cavity (human) PMID:25023662|REF_RGD_ID:153323312 12351684 EMX2 empty spiracles homeobox 2 gene DOID:9002739 Female Urogenital Diseases ISO RGD:1322367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 12351684 EMX2 empty spiracles homeobox 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1322367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20697358 12351684 EMX2 empty spiracles homeobox 2 gene DOID:9006637 Schizencephaly ISO RGD:1322367 D RGD:7240710 20190327 OMIM 12351684 EMX2 empty spiracles homeobox 2 gene DOID:9006637 Schizencephaly ISO RGD:1322367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizencephaly PMID:8528262|PMID:9359037 12351684 EMX2 empty spiracles homeobox 2 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1322367 D RGD:9068941 20220811 RGD human cells in mouse model PMID:27712600|REF_RGD_ID:153323291 12351693 ASPA aspartoacylase gene DOID:0111406 Fraser syndrome 3 ISO RGD:1350952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:28492532 12351693 ASPA aspartoacylase gene DOID:1059 intellectual disability ISO RGD:1350952 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28101991|PMID:28492532|PMID:29453510 12351693 ASPA aspartoacylase gene DOID:3613 Canavan disease ISO RGD:1350952 D RGD:7240710 20180130 OMIM 12351693 ASPA aspartoacylase gene DOID:3613 Canavan disease ISO RGD:1350952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Canavan Disease, Familial Form | ClinVar Annotator: match by term: Mild Canavan disease | ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10407784|PMID:10564886|PMID:10701101|PMID:10704428|PMID:10724099|PMID:10909858|PMID:11238686|PMID:12205125|PMID:12638939|PMID:14567959|PMID:15243987|PMID:16138249|PMID:16199547|PMID:16217711|PMID:16437572|PMID:16802711|PMID:16854607|PMID:17027983|PMID:17194761|PMID:17391648|PMID:17576681|PMID:17999961|PMID:18070137|PMID:18978679|PMID:19685155|PMID:19932039|PMID:20129749|PMID:20301412|PMID:21228398|PMID:21520333|PMID:21907889|PMID:22019069|PMID:22219087|PMID:22611636|PMID:22750302|PMID:22850825|PMID:22878930|PMID:23233226|PMID:23253610|PMID:23971085|PMID:24033266|PMID:24036223|PMID:25003821|PMID:25107638|PMID:25668701|PMID:25741868|PMID:26586007|PMID:26992473|PMID:27102039|PMID:27457812|PMID:27531131|PMID:27927234|PMID:28101991|PMID:28492532|PMID:29453510|PMID:31839386|PMID:32403196|PMID:33547378|PMID:34011350|PMID:34316023|PMID:7599639|PMID:7668285|PMID:8023850|PMID:8037206|PMID:8088831|PMID:8252036|PMID:8659549|PMID:9452117|PMID:9536098|PMID:9537412|PMID:9887384 12351693 ASPA aspartoacylase gene DOID:3613 Canavan disease susceptibility ISO RGD:1350952 D RGD:9068941 20200609 RGD PMID:8252036|REF_RGD_ID:1599291 12351693 ASPA aspartoacylase gene DOID:630 genetic disease ISO RGD:1350952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10407784|PMID:10909858|PMID:11238686|PMID:12205125|PMID:12638939|PMID:16217711|PMID:16437572|PMID:16854607|PMID:17027983|PMID:17194761|PMID:17391648|PMID:18070137|PMID:18293939|PMID:20301412|PMID:21228398|PMID:22750302|PMID:22850825|PMID:23233226|PMID:23253610|PMID:23971085|PMID:24033266|PMID:25003821|PMID:25107638|PMID:25668701|PMID:25741868|PMID:26586007|PMID:27102039|PMID:27531131|PMID:27927234|PMID:28101991|PMID:28492532|PMID:34011350|PMID:7668285|PMID:8023850|PMID:8037206|PMID:8088831|PMID:8252036|PMID:8659549|PMID:9537412|PMID:9887384 12351693 ASPA aspartoacylase gene DOID:9000495 Tremor ISO RGD:621693 D RGD:9068941 20200609 RGD associated with Hcn1A354V allele PMID:27026062|REF_RGD_ID:13464274 12351693 ASPA aspartoacylase gene DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type ISO RGD:1350952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 12351693 ASPA aspartoacylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733059 D RGD:9068941 20200609 RGD protein:increased expression:duodenum, brain PMID:16707098|REF_RGD_ID:1601247 12351693 ASPA aspartoacylase gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1350952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 12351712 RGS11 regulator of G protein signaling 11 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1321340 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12351712 RGS11 regulator of G protein signaling 11 gene DOID:1826 epilepsy ISO RGD:1321340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 12351712 RGS11 regulator of G protein signaling 11 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1321340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12351712 RGS11 regulator of G protein signaling 11 gene DOID:630 genetic disease ISO RGD:1321340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351742 GCLM glutamate-cysteine ligase modifier subunit gene DOID:10322 berylliosis ISO RGD:731551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16766924 12351742 GCLM glutamate-cysteine ligase modifier subunit gene DOID:5844 myocardial infarction ISO RGD:731551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:12081989|PMID:12975258 12351742 GCLM glutamate-cysteine ligase modifier subunit gene DOID:5844 myocardial infarction susceptibility ISO RGD:731551 D RGD:7240710 20190502 OMIM 12351742 GCLM glutamate-cysteine ligase modifier subunit gene DOID:630 genetic disease ISO RGD:731551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351742 GCLM glutamate-cysteine ligase modifier subunit gene DOID:8725 vascular dementia susceptibility ISO RGD:731551 D RGD:9068941 20200609 RGD associated with stroke;DNA:polymorphism:promoter:-588C>T(human) PMID:17548779|REF_RGD_ID:10402374 12351742 GCLM glutamate-cysteine ligase modifier subunit gene DOID:9004303 Tubulointerstitial Fibrosis ISO RGD:619871 D RGD:9068941 20200609 RGD PMID:21152904|REF_RGD_ID:5134352 12351742 GCLM glutamate-cysteine ligase modifier subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12351742 GCLM glutamate-cysteine ligase modifier subunit gene DOID:9008691 Liver Injury ISO RGD:619871 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:24944771|REF_RGD_ID:10402380 12351742 GCLM glutamate-cysteine ligase modifier subunit gene DOID:9352 type 2 diabetes mellitus ISO RGD:731551 D RGD:9068941 20200910 CTD CTD Direct Evidence: therapeutic PMID:32715377 12351753 ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1320234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 12351753 ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1320234 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 12351753 ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:1059 intellectual disability ISO RGD:1320234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12351753 ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:11476 osteoporosis ISO RGD:1320234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20548961 12351753 ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:12858 Huntington's disease ISO RGD:1320235 D RGD:9068941 20220825 MouseDO OMIM:143100 12351753 ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:630 genetic disease ISO RGD:1320234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351753 ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12351753 ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:9120 amyloidosis ISO RGD:1320234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20548961 12351753 ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:987 alopecia ISO RGD:1320234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20548961 12351777 ARHGAP8 Rho GTPase activating protein 8 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1606315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12351777 ARHGAP8 Rho GTPase activating protein 8 gene DOID:1059 intellectual disability ISO RGD:1606315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12351777 ARHGAP8 Rho GTPase activating protein 8 gene DOID:630 genetic disease ISO RGD:1606315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351795 MIR183 microRNA mir-183 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1342756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12351795 MIR183 microRNA mir-183 gene DOID:4989 pancreatitis ISO RGD:1342756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12351795 MIR183 microRNA mir-183 gene DOID:5679 retinal disease ISO RGD:1342756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27208084 12351795 MIR183 microRNA mir-183 gene DOID:9000998 Brain Injuries ISO RGD:1342756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 12351795 MIR183 microRNA mir-183 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1342756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12351795 MIR183 microRNA mir-183 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1342756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 12351795 MIR183 microRNA mir-183 gene DOID:9006447 Eye Injuries ISO RGD:1342756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27208084 12351795 MIR183 microRNA mir-183 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1342756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12351795 MIR183 microRNA mir-183 gene DOID:9452 fatty liver disease ISO RGD:1342756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12351798 MIR188 microRNA mir-188 gene DOID:12849 autistic disorder ISO RGD:1352314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12351798 MIR188 microRNA mir-188 gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:1352314 D RGD:9068941 20200710 RGD RNA:increased expression:plasma PMID:27528406|REF_RGD_ID:35673289 12351798 MIR188 microRNA mir-188 gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:2325505 D RGD:9068941 20200710 RGD RNA:increased expression:plasma, kidney PMID:27528406|REF_RGD_ID:35673289 12351798 MIR188 microRNA mir-188 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12351798 MIR188 microRNA mir-188 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1352314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12351798 MIR188 microRNA mir-188 gene DOID:9008579 Dent Disease 1 ISO RGD:1352314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrolithiasis 2 PMID:15052463|PMID:7874126|PMID:9328929 12351825 GSDMB gasdermin B gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1346441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 12351825 GSDMB gasdermin B gene DOID:2841 asthma ISO RGD:1346441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24241537 12351825 GSDMB gasdermin B gene DOID:630 genetic disease ISO RGD:1346441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351897 DMAP1 DNA methyltransferase 1 associated protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1322676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12351897 DMAP1 DNA methyltransferase 1 associated protein 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12351897 DMAP1 DNA methyltransferase 1 associated protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1322676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12351897 DMAP1 DNA methyltransferase 1 associated protein 1 gene DOID:1826 epilepsy ISO RGD:1322676 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12351897 DMAP1 DNA methyltransferase 1 associated protein 1 gene DOID:630 genetic disease ISO RGD:1322676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351897 DMAP1 DNA methyltransferase 1 associated protein 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1322676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia 12351912 SSRP1 structure specific recognition protein 1 gene DOID:1059 intellectual disability ISO RGD:734366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12351912 SSRP1 structure specific recognition protein 1 gene DOID:630 genetic disease ISO RGD:734366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351932 CCDC66 coiled-coil domain containing 66 gene DOID:10584 retinitis pigmentosa ISO RGD:1620471 D RGD:9068941 20220825 MouseDO OMIM:268000 12351932 CCDC66 coiled-coil domain containing 66 gene DOID:630 genetic disease ISO RGD:1605241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351932 CCDC66 coiled-coil domain containing 66 gene DOID:8466 retinal degeneration IAGP D RGD:12801476 20210603 OMIA Progressive retinal atrophy, CCDC66 related PMID:19777273|PMID:17327822|PMID:22065099|PMID:33273526 12351956 CSNK2A2 casein kinase 2 alpha 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315751 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12351956 CSNK2A2 casein kinase 2 alpha 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315751 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12351956 CSNK2A2 casein kinase 2 alpha 2 gene DOID:12336 male infertility ISO RGD:1315752 D RGD:9068941 20220825 MouseDO 12351956 CSNK2A2 casein kinase 2 alpha 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1315751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 12351956 CSNK2A2 casein kinase 2 alpha 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1315751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12351956 CSNK2A2 casein kinase 2 alpha 2 gene DOID:630 genetic disease ISO RGD:1315751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351956 CSNK2A2 casein kinase 2 alpha 2 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:1315752 D RGD:9068941 20200609 RGD PMID:16651637|REF_RGD_ID:11565123 12351956 CSNK2A2 casein kinase 2 alpha 2 gene DOID:9004464 Skin Neoplasms ISO RGD:1315751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 12351983 RPL22 ribosomal protein L22 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:733560 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12351983 RPL22 ribosomal protein L22 gene DOID:630 genetic disease ISO RGD:733560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12351983 RPL22 ribosomal protein L22 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12351991 LOC479600 beta-catenin-interacting protein 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1315087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12351991 LOC479600 beta-catenin-interacting protein 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1315087 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12351991 LOC479600 beta-catenin-interacting protein 1 gene DOID:0111936 immunodeficiency 14 ISO RGD:1315087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 12351991 LOC479600 beta-catenin-interacting protein 1 gene DOID:630 genetic disease ISO RGD:1315087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352034 SMC1B structural maintenance of chromosomes 1B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1318766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12352034 SMC1B structural maintenance of chromosomes 1B gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1318766 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 12352034 SMC1B structural maintenance of chromosomes 1B gene DOID:1059 intellectual disability ISO RGD:1318766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12352034 SMC1B structural maintenance of chromosomes 1B gene DOID:11054 urinary bladder cancer ISO RGD:1318766 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121791 12352034 SMC1B structural maintenance of chromosomes 1B gene DOID:2661 myoepithelioma ISO RGD:1318766 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12352034 SMC1B structural maintenance of chromosomes 1B gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 12352034 SMC1B structural maintenance of chromosomes 1B gene DOID:630 genetic disease ISO RGD:1318766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352063 INIP INTS3 and NABP interacting protein gene DOID:630 genetic disease ISO RGD:1317489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352071 HOXA5 homeobox A5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12352071 HOXA5 homeobox A5 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:734224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22227861 12352071 HOXA5 homeobox A5 gene DOID:630 genetic disease ISO RGD:734224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352071 HOXA5 homeobox A5 gene DOID:9007364 Mouth Neoplasms ISO RGD:734224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22227861 12352071 HOXA5 homeobox A5 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:734224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18351244 12352080 VAMP5 vesicle associated membrane protein 5 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1350486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 12352080 VAMP5 vesicle associated membrane protein 5 gene DOID:3393 coronary artery disease ISO RGD:1350486 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 12352080 VAMP5 vesicle associated membrane protein 5 gene DOID:630 genetic disease ISO RGD:1350486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352088 TOLLIP toll interacting protein gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1312257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 12352088 TOLLIP toll interacting protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12352088 TOLLIP toll interacting protein gene DOID:0080773 delta beta-thalassemia ISO RGD:1312257 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12352088 TOLLIP toll interacting protein gene DOID:0111969 immunodeficiency 39 ISO RGD:1312257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12352088 TOLLIP toll interacting protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12352088 TOLLIP toll interacting protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1312257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12352088 TOLLIP toll interacting protein gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1312257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease 12352088 TOLLIP toll interacting protein gene DOID:630 genetic disease ISO RGD:1312257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352088 TOLLIP toll interacting protein gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1312257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12352100 GRAMD1A GRAM domain containing 1A gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1322253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12352100 GRAMD1A GRAM domain containing 1A gene DOID:630 genetic disease ISO RGD:1322253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352128 TMEM132B transmembrane protein 132B gene DOID:1909 melanoma ISO RGD:1606181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 12352128 TMEM132B transmembrane protein 132B gene DOID:630 genetic disease ISO RGD:1606181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352141 PIGY phosphatidylinositol glycan anchor biosynthesis class Y gene DOID:630 genetic disease ISO RGD:1605909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352141 PIGY phosphatidylinositol glycan anchor biosynthesis class Y gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1605909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12352141 PIGY phosphatidylinositol glycan anchor biosynthesis class Y gene DOID:9001811 Hyperphosphatasia with Impaired Intellectual Development Syndrome 6 ISO RGD:1605909 D RGD:7240710 20190315 OMIM 12352141 PIGY phosphatidylinositol glycan anchor biosynthesis class Y gene DOID:9001811 Hyperphosphatasia with Impaired Intellectual Development Syndrome 6 ISO RGD:1605909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 12 PMID:25741868|PMID:26293662|PMID:28492532 12352141 PIGY phosphatidylinositol glycan anchor biosynthesis class Y gene DOID:9005046 Hyperphosphatasia with Impaired Intellectual Development Syndrome ISO RGD:1605909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12352147 CDH18 cadherin 18 gene DOID:0111275 speech-language disorder-1 ISO RGD:1313454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood apraxia of speech PMID:27120335 12352147 CDH18 cadherin 18 gene DOID:630 genetic disease ISO RGD:1313454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352147 CDH18 cadherin 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12352172 ZZEF1 zinc finger ZZ-type and EF-hand domain containing 1 gene DOID:630 genetic disease ISO RGD:1322516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352233 SYNGR3 synaptogyrin 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1323444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 12352233 SYNGR3 synaptogyrin 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1323444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12352233 SYNGR3 synaptogyrin 3 gene DOID:1826 epilepsy ISO RGD:1323444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12352233 SYNGR3 synaptogyrin 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1323444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12352233 SYNGR3 synaptogyrin 3 gene DOID:630 genetic disease ISO RGD:1323444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352240 CRAT carnitine O-acetyltransferase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12352240 CRAT carnitine O-acetyltransferase gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1350289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:25741868|PMID:28492532|PMID:29395073 12352240 CRAT carnitine O-acetyltransferase gene DOID:630 genetic disease ISO RGD:1350289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12352240 CRAT carnitine O-acetyltransferase gene DOID:9008371 Carnitine Acetyltransferase Deficiency ISO RGD:1350289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CARNITINE ACETYLTRANSFERASE DEFICIENCY PMID:28492532|PMID:31448845 12352240 CRAT carnitine O-acetyltransferase gene DOID:9009153 Neurodegeneration with Brain Iron Accumulation 8 ISO RGD:1350289 D RGD:7240710 20190315 OMIM 12352240 CRAT carnitine O-acetyltransferase gene DOID:9009153 Neurodegeneration with Brain Iron Accumulation 8 ISO RGD:1350289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 8 PMID:25741868|PMID:28492532|PMID:29395073 12352262 ZBED1 zinc finger BED-type containing 1 gene DOID:12849 autistic disorder ISO RGD:1348579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12352262 ZBED1 zinc finger BED-type containing 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12352267 RBM41 RNA binding motif protein 41 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1605361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 12352267 RBM41 RNA binding motif protein 41 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12352267 RBM41 RNA binding motif protein 41 gene DOID:12849 autistic disorder ISO RGD:1605361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12352267 RBM41 RNA binding motif protein 41 gene DOID:630 genetic disease ISO RGD:1605361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352281 CHRDL1 chordin like 1 gene DOID:0060305 megalocornea ISO RGD:1349204 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Isolated congenital megalocornea | ClinVar Annotator: match by term: Megalocornea PMID:22284829|PMID:25093588|PMID:25712132|PMID:25741868|PMID:26938784 12352281 CHRDL1 chordin like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12352281 CHRDL1 chordin like 1 gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:1349204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 PMID:28492532 12352281 CHRDL1 chordin like 1 gene DOID:12849 autistic disorder ISO RGD:1349204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12352281 CHRDL1 chordin like 1 gene DOID:5419 schizophrenia ISO RGD:1349204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12352281 CHRDL1 chordin like 1 gene DOID:630 genetic disease ISO RGD:1349204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352304 C1QL3 complement C1q like 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1322092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12352304 C1QL3 complement C1q like 3 gene DOID:630 genetic disease ISO RGD:1322092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352310 B3GNTL1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1 gene DOID:630 genetic disease ISO RGD:1603899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352311 GGA2 golgi associated, gamma adaptin ear containing, ARF binding protein 2 gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1312455 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 12352311 GGA2 golgi associated, gamma adaptin ear containing, ARF binding protein 2 gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1312455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 12352311 GGA2 golgi associated, gamma adaptin ear containing, ARF binding protein 2 gene DOID:0111493 combined oxidative phosphorylation deficiency 12 ISO RGD:1312455 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome PMID:25741868 12352311 GGA2 golgi associated, gamma adaptin ear containing, ARF binding protein 2 gene DOID:630 genetic disease ISO RGD:1312455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352335 LOC608697 2-hydroxyacyl-CoA lyase 1 gene DOID:0060417 3p deletion syndrome ISO RGD:1607054 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12352335 LOC608697 2-hydroxyacyl-CoA lyase 1 gene DOID:0110667 congenital myasthenic syndrome 5 IAGP D RGD:12801476 20220629 OMIA Myasthenic syndrome, congenital, COLQ-related PMID:25166616|PMID:31769119|PMID:32668077|PMID:27080328|PMID:29405353 12352335 LOC608697 2-hydroxyacyl-CoA lyase 1 gene DOID:13580 cholestasis ISO RGD:1607054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12352335 LOC608697 2-hydroxyacyl-CoA lyase 1 gene DOID:630 genetic disease ISO RGD:1607054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352335 LOC608697 2-hydroxyacyl-CoA lyase 1 gene DOID:856 biotinidase deficiency ISO RGD:1607054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Biotinidase deficiency PMID:20083419|PMID:28492532 12352335 LOC608697 2-hydroxyacyl-CoA lyase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1607054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12352392 DBR1 debranching RNA lariats 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1323625 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23104007 12352392 DBR1 debranching RNA lariats 1 gene DOID:630 genetic disease ISO RGD:1323625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12352392 DBR1 debranching RNA lariats 1 gene DOID:9003272 ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11 ISO RGD:1323625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalitis, acute, infection (viral)-induced, susceptibility to, 11 PMID:28492532|PMID:29474921 12352392 DBR1 debranching RNA lariats 1 gene DOID:9003272 ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11 susceptibility ISO RGD:1323625 D RGD:7240710 20210728 OMIM 12352405 IL29L interleukin 29-like gene DOID:0080600 COVID-19 ameliorates ISO RGD:1347142 D RGD:9068941 20210430 RGD human protein in a mouse model PMID:32854108|REF_RGD_ID:126848773 12352405 IL29L interleukin 29-like gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1347142 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12352405 IL29L interleukin 29-like gene DOID:12205 dengue disease ameliorates ISO RGD:1347142 D RGD:9068941 20210430 RGD protein:increased expression:blood serum (human) PMID:28238051|REF_RGD_ID:126848771 12352405 IL29L interleukin 29-like gene DOID:12206 dengue hemorrhagic fever ameliorates ISO RGD:1347142 D RGD:9068941 20210430 RGD DNA:SNP:enhancer:-1043C>T (rs7247086) (human) PMID:31981768|REF_RGD_ID:126848742 12352405 IL29L interleukin 29-like gene DOID:1883 hepatitis C ISO RGD:1347142 D RGD:9068941 20210430 RGD DNA:missense mutation, haplotype:exon (rs30461) (human) PMID:24269996|REF_RGD_ID:126848746 12352405 IL29L interleukin 29-like gene DOID:2841 asthma exacerbates ISO RGD:1347142 D RGD:9068941 20210430 RGD associated with common cold;mRNA:decreased expression:sputum (human) PMID:25784275|REF_RGD_ID:126848770 12352405 IL29L interleukin 29-like gene DOID:2841 asthma exacerbates ISO RGD:1347142 D RGD:9068941 20210430 RGD associated with common cold;protein:increased expression: nasal cavity (human) PMID:22135341|REF_RGD_ID:126848775 12352405 IL29L interleukin 29-like gene DOID:321 tropical spastic paraparesis ISO RGD:1347142 D RGD:9068941 20210430 RGD associated with HTLV-I Infections;mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:29990995|REF_RGD_ID:126848769 12352405 IL29L interleukin 29-like gene DOID:630 genetic disease ISO RGD:1347142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352405 IL29L interleukin 29-like gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1347142 D RGD:9068941 20210430 RGD human protein and cells in mouse model PMID:24769671|REF_RGD_ID:126848750 12352405 IL29L interleukin 29-like gene DOID:8970 subacute sclerosing panencephalitis ISO RGD:1347142 D RGD:9068941 20210430 RGD protein:increased expression:blood serum (human) PMID:30077763|REF_RGD_ID:126848745 12352405 IL29L interleukin 29-like gene DOID:9004017 Chronic Hepatitis C ISO RGD:1347142 D RGD:9068941 20210430 RGD mRNA,protein:increased expression:liver, blood serum (human) PMID:23071503|REF_RGD_ID:126848749 12352405 IL29L interleukin 29-like gene DOID:9004017 Chronic Hepatitis C ameliorates ISO RGD:1347142 D RGD:9068941 20210430 RGD protein:altered expression:blood serum (human) PMID:21145813|REF_RGD_ID:126848747 12352405 IL29L interleukin 29-like gene DOID:9004017 Chronic Hepatitis C ameliorates ISO RGD:1347142 D RGD:9068941 20210430 RGD protein:increased expression:blood serum (human) PMID:30926417|REF_RGD_ID:126848741 12352405 IL29L interleukin 29-like gene DOID:9006081 Osteolysis ameliorates ISO RGD:1347142 D RGD:9068941 20210430 RGD associated with Inflammation; human protein in a mouse model PMID:32488049|REF_RGD_ID:126848774 12352405 IL29L interleukin 29-like gene DOID:9006928 Viral Bronchiolitis exacerbates ISO RGD:1347142 D RGD:9068941 20210430 RGD associated with respiratory syncytial virus infectious disease;mRNA:increased expression:mucosa of nasopharynx (human) PMID:24389019|REF_RGD_ID:126848743 12352405 IL29L interleukin 29-like gene DOID:9008163 Chronic Hepatitis B ISO RGD:1347142 D RGD:9068941 20210430 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:21957142|REF_RGD_ID:126848748 12352405 IL29L interleukin 29-like gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347142 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12352408 MED29 mediator complex subunit 29 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1351639 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12352408 MED29 mediator complex subunit 29 gene DOID:630 genetic disease ISO RGD:1351639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352408 MED29 mediator complex subunit 29 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351639 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12352416 CAFA-T2R43 bitter taste receptor Cafa-T2R43 gene DOID:630 genetic disease ISO RGD:1353935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352422 PIRT phosphoinositide interacting regulator of transient receptor potential channels gene DOID:630 genetic disease ISO RGD:3539788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352430 LENEP lens epithelial protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:69166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12352430 LENEP lens epithelial protein gene DOID:0111940 immunodeficiency 42 ISO RGD:69166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12352430 LENEP lens epithelial protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:69166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12352430 LENEP lens epithelial protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:69166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12352430 LENEP lens epithelial protein gene DOID:1540 parathyroid carcinoma ISO RGD:69166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12352430 LENEP lens epithelial protein gene DOID:5812 MHC class II deficiency ISO RGD:69166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12352430 LENEP lens epithelial protein gene DOID:630 genetic disease ISO RGD:69166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352430 LENEP lens epithelial protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:69166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12352436 PSMB5 proteasome 20S subunit beta 5 gene DOID:0060439 lysinuric protein intolerance ISO RGD:735704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12352436 PSMB5 proteasome 20S subunit beta 5 gene DOID:630 genetic disease ISO RGD:735704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352436 PSMB5 proteasome 20S subunit beta 5 gene DOID:9000265 Specific Granule Deficiency ISO RGD:735704 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12352436 PSMB5 proteasome 20S subunit beta 5 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:735704 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12352436 PSMB5 proteasome 20S subunit beta 5 gene DOID:9007102 Myocardial Ischemia ISO RGD:735704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12352443 LHFPL5 LHFPL tetraspan subfamily member 5 gene DOID:0050553 JMP syndrome ISO RGD:1347478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12352443 LHFPL5 LHFPL tetraspan subfamily member 5 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1347478 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:16459341|PMID:25741868|PMID:30177809|PMID:30298622|PMID:30303587 12352443 LHFPL5 LHFPL tetraspan subfamily member 5 gene DOID:0060308 autosomal recessive intellectual developmental disorder ISO RGD:1347478 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal recessive PMID:27148795 12352443 LHFPL5 LHFPL tetraspan subfamily member 5 gene DOID:0110518 autosomal recessive nonsyndromic deafness 67 ISO RGD:1347478 D RGD:7240710 20180130 OMIM 12352443 LHFPL5 LHFPL tetraspan subfamily member 5 gene DOID:0110518 autosomal recessive nonsyndromic deafness 67 ISO RGD:1347478 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 67 PMID:16459341|PMID:16752389|PMID:24033266|PMID:25741868|PMID:27148795|PMID:28492532|PMID:30177809|PMID:30298622|PMID:30303587|PMID:32747562 12352443 LHFPL5 LHFPL tetraspan subfamily member 5 gene DOID:1059 intellectual disability ISO RGD:1347478 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability PMID:27148795 12352443 LHFPL5 LHFPL tetraspan subfamily member 5 gene DOID:630 genetic disease ISO RGD:1347478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12352443 LHFPL5 LHFPL tetraspan subfamily member 5 gene DOID:9004538 Hearing Loss ISO RGD:1347478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:28492532|PMID:30311386 12352459 PCDH1 protocadherin 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318287 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12352459 PCDH1 protocadherin 1 gene DOID:630 genetic disease ISO RGD:1318287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352459 PCDH1 protocadherin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12352459 PCDH1 protocadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318287 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12352459 PCDH1 protocadherin 1 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1318287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 12352478 MIRLET7G microRNA let-7g gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1344572 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12352478 MIRLET7G microRNA let-7g gene DOID:6000 congestive heart failure ISO RGD:1344572 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12352478 MIRLET7G microRNA let-7g gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344572 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12352494 RNF133 ring finger protein 133 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12352494 RNF133 ring finger protein 133 gene DOID:630 genetic disease ISO RGD:1350521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352582 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:14330 Parkinson's disease treatment ISO XCO:0000498, XCO:0000520 D RGD:9068941 20210305 RGD compared to wild-type and untreated PMID:29530712|REF_RGD_ID:40924655 12352582 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:1470 major depressive disorder ISO RGD:732751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29175309 12352582 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:1793 pancreatic cancer ISO RGD:732751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20660371 12352582 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:289 endometriosis ISO RGD:732751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12352582 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:4783 mesangial proliferative glomerulonephritis ISO RGD:620029 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney PMID:16736195|REF_RGD_ID:14700866 12352582 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:557 kidney disease ISO RGD:732751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24722447 12352582 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:576 proteinuria ISO RGD:732751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24722447 12352582 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:630 genetic disease ISO RGD:732751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352582 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:784 chronic kidney disease disease_progression ISO RGD:620029 D RGD:9068941 20200609 RGD PMID:24722447|REF_RGD_ID:12910103 12352582 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:620029 D RGD:9068941 20201211 RGD compared to FHH PMID:24722447|REF_RGD_ID:12910103 12352582 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:9001542 Albuminuria ISO RGD:620029 D RGD:9068941 20201211 RGD compared to FHH PMID:24722447|REF_RGD_ID:12910103 12352582 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:732752 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:22343121|REF_RGD_ID:14700869 12352582 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:9006223 Kidney Reperfusion Injury severity ISO RGD:732752 D RGD:9068941 20200609 RGD PMID:22343121|REF_RGD_ID:14700869 12352582 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:620029 D RGD:9068941 20201211 RGD compared to FHH PMID:24722447|REF_RGD_ID:12910103 12352582 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:732751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12352582 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:9007692 Insulin Resistance ISO RGD:732751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17785466 12352582 NR4A1 nuclear receptor subfamily 4 group A member 1 gene DOID:9008675 Dyskinesias treatment ISO XCO:0000498, XCO:0000520 D RGD:9068941 20210305 RGD compared to wild-type and untreated PMID:29530712|REF_RGD_ID:40924655 12352604 HSDL2 hydroxysteroid dehydrogenase like 2 gene DOID:630 genetic disease ISO RGD:1350650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352604 HSDL2 hydroxysteroid dehydrogenase like 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1350650 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 12352624 DMTF1 cyclin D binding myb like transcription factor 1 gene DOID:1826 epilepsy ISO RGD:736177 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 12352624 DMTF1 cyclin D binding myb like transcription factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12352624 DMTF1 cyclin D binding myb like transcription factor 1 gene DOID:630 genetic disease ISO RGD:736177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352662 SEMA4D semaphorin 4D gene DOID:630 genetic disease ISO RGD:1321523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352697 DDA1 DET1 and DDB1 associated 1 gene DOID:630 genetic disease ISO RGD:1601973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352709 ENO4 enolase 4 gene DOID:12336 male infertility ISO RGD:1351322 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23446454 12352709 ENO4 enolase 4 gene DOID:630 genetic disease ISO RGD:1351322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352729 POLR2M RNA polymerase II subunit M gene DOID:2717 Bloom syndrome ISO RGD:731440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12352729 POLR2M RNA polymerase II subunit M gene DOID:630 genetic disease ISO RGD:731440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352729 POLR2M RNA polymerase II subunit M gene DOID:9256 colorectal cancer ISO RGD:731440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 12352737 ST3GAL6 ST3 beta-galactoside alpha-2,3-sialyltransferase 6 gene DOID:630 genetic disease ISO RGD:1349452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352780 DUSP12 dual specificity phosphatase 12 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:731810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 12352780 DUSP12 dual specificity phosphatase 12 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:731810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12352780 DUSP12 dual specificity phosphatase 12 gene DOID:1540 parathyroid carcinoma ISO RGD:731810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12352780 DUSP12 dual specificity phosphatase 12 gene DOID:630 genetic disease ISO RGD:731810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352780 DUSP12 dual specificity phosphatase 12 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12352790 ACSBG1 acyl-CoA synthetase bubblegum family member 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:733957 D RGD:9068941 20200609 RGD PMID:15800013|REF_RGD_ID:11065111 12352790 ACSBG1 acyl-CoA synthetase bubblegum family member 1 gene DOID:2717 Bloom syndrome ISO RGD:733957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12352790 ACSBG1 acyl-CoA synthetase bubblegum family member 1 gene DOID:3213 demyelinating disease ISO RGD:1557638 D RGD:9068941 20200609 RGD PMID:17722065|REF_RGD_ID:13831132 12352790 ACSBG1 acyl-CoA synthetase bubblegum family member 1 gene DOID:630 genetic disease ISO RGD:733957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352790 ACSBG1 acyl-CoA synthetase bubblegum family member 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733957 D RGD:9068941 20200609 RGD associated with pheochromocytoma PMID:29067245|REF_RGD_ID:13831131 12352790 ACSBG1 acyl-CoA synthetase bubblegum family member 1 gene DOID:9256 colorectal cancer ISO RGD:733957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12352817 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1316207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:15976379|PMID:17597647|PMID:18246475|PMID:18317237|PMID:18603241|PMID:18676873|PMID:22145626|PMID:22304854|PMID:22434821|PMID:22435821|PMID:22800827|PMID:22866751|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24136335|PMID:24871971|PMID:25073622|PMID:25553246|PMID:25741868|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:28642621|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32238781|PMID:32692933|PMID:33526094|PMID:34132118 12352817 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1316207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 12352817 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1316207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12352817 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:10283 prostate cancer ISO RGD:1316207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12352817 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:11162 respiratory failure ISO RGD:1316207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Respiratory failure | ClinVar Annotator: match by term: Respiratory insufficiency PMID:15976379|PMID:17597647|PMID:18246475|PMID:18317237|PMID:18603241|PMID:18676873|PMID:22145626|PMID:22304854|PMID:22434821|PMID:22435821|PMID:22800827|PMID:22866751|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24136335|PMID:24871971|PMID:25073622|PMID:25553246|PMID:25741868|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32238781|PMID:32692933|PMID:33526094|PMID:34132118 12352817 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1316208 D RGD:9068941 20220825 MouseDO OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370 12352817 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:1682 congenital heart disease ISO RGD:1316207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 12352817 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:1826 epilepsy ISO RGD:1316207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12352817 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1316207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12352817 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:2871 endometrial carcinoma ISO RGD:1316207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 12352817 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:3082 interstitial lung disease ISO RGD:1316207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease PMID:25741868 12352817 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:3770 pulmonary fibrosis ISO RGD:1316207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26780485 12352817 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:5641 diffuse pulmonary fibrosis ISO RGD:1316207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diffuse interstitial pulmonary fibrosis PMID:15976379|PMID:17597647|PMID:18246475|PMID:18317237|PMID:18603241|PMID:18676873|PMID:22145626|PMID:22304854|PMID:22434821|PMID:22435821|PMID:22800827|PMID:22866751|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24136335|PMID:24871971|PMID:25073622|PMID:25553246|PMID:25741868|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32238781|PMID:32692933|PMID:33526094|PMID:34132118 12352817 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:630 genetic disease ISO RGD:1316207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12352817 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:6432 pulmonary hypertension ISO RGD:1316207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26780485 12352817 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:9000122 Pulmonary Surfactant Metabolism Dysfunction 3 ISO RGD:1316207 D RGD:7240710 20180130 OMIM 12352817 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:9000122 Pulmonary Surfactant Metabolism Dysfunction 3 ISO RGD:1316207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Interstitial lung disease due to ABCA3 deficiency | ClinVar Annotator: match by term: Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies PMID:15044640|PMID:15976379|PMID:16641205|PMID:16728712|PMID:17517255|PMID:17597647|PMID:17719949|PMID:18024538|PMID:18246475|PMID:18317237|PMID:18492541|PMID:18603241|PMID:18676873|PMID:20371530|PMID:20656946|PMID:21214890|PMID:22068586|PMID:22145626|PMID:22304854|PMID:22337229|PMID:22434821|PMID:22435821|PMID:22455634|PMID:22800827|PMID:22866751|PMID:22995991|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24047351|PMID:24115460|PMID:24136335|PMID:24142515|PMID:24657120|PMID:24871971|PMID:25073622|PMID:25105258|PMID:25113300|PMID:25406294|PMID:25553246|PMID:25692779|PMID:25712598|PMID:25741868|PMID:26467025|PMID:26517903|PMID:26547207|PMID:26928390|PMID:27374344|PMID:27516224|PMID:27670912|PMID:28034695|PMID:28492532|PMID:28642621|PMID:28808495|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32196812|PMID:32238781|PMID:32692933|PMID:33526094|PMID:33526882|PMID:34132118|PMID:7374344 12352817 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:9001026 Pulmonary Surfactant Metabolism Dysfunction 1 ISO RGD:1316207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1 PMID:25741868 12352817 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1316207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:15976379|PMID:17597647|PMID:18246475|PMID:18317237|PMID:18603241|PMID:18676873|PMID:22145626|PMID:22304854|PMID:22434821|PMID:22435821|PMID:22800827|PMID:22866751|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24136335|PMID:24871971|PMID:25073622|PMID:25553246|PMID:25741868|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32238781|PMID:32692933|PMID:33526094|PMID:34132118 12352817 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:9002884 Emphysema ISO RGD:1316207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26780485 12352817 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:9003953 Surfactant Dysfunction ISO RGD:1316207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonary Surfactant Metabolism Dysfunction, Recessive | ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction PMID:15044640|PMID:15976379|PMID:16641205|PMID:16728712|PMID:16959783|PMID:17429902|PMID:17517255|PMID:17597647|PMID:17660803|PMID:18024538|PMID:18246475|PMID:18317237|PMID:18492541|PMID:18603241|PMID:18676873|PMID:19647838|PMID:20371530|PMID:20656946|PMID:21189475|PMID:21214890|PMID:22068586|PMID:22145626|PMID:22304854|PMID:22337229|PMID:22434821|PMID:22435821|PMID:22455634|PMID:22800827|PMID:22866751|PMID:22995991|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24047351|PMID:24115460|PMID:24136335|PMID:24142515|PMID:24657120|PMID:24871971|PMID:25073622|PMID:25105258|PMID:25113300|PMID:25553246|PMID:25692779|PMID:25712598|PMID:25741868|PMID:26467025|PMID:26517903|PMID:26547207|PMID:26928390|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:28602350|PMID:28642621|PMID:28808495|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32196812|PMID:32238781|PMID:32692933|PMID:33526094|PMID:33526882|PMID:34132118|PMID:7374344 12352817 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:9006458 Congenital Pulmonary Lymphangiectasia ISO RGD:1316207 D RGD:8554872 20221227 ClinVar ClinVar Annotator: match by term: Pulmonary lymphangiectasia PMID:25741868 12352817 ABCA3 ATP binding cassette subfamily A member 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12352857 PTGFR prostaglandin F receptor gene DOID:2661 myoepithelioma ISO RGD:737369 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12352857 PTGFR prostaglandin F receptor gene DOID:289 endometriosis ISO RGD:737369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25446850 12352857 PTGFR prostaglandin F receptor gene DOID:630 genetic disease ISO RGD:737369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352857 PTGFR prostaglandin F receptor gene DOID:9005700 Airway Obstruction ISO RGD:737369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1219628 12352861 PHETA2 PH domain containing endocytic trafficking adaptor 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1604738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12352861 PHETA2 PH domain containing endocytic trafficking adaptor 2 gene DOID:0080600 COVID-19 ISO RGD:1604738 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12352861 PHETA2 PH domain containing endocytic trafficking adaptor 2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1604738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 12352861 PHETA2 PH domain containing endocytic trafficking adaptor 2 gene DOID:1059 intellectual disability ISO RGD:1604738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12352861 PHETA2 PH domain containing endocytic trafficking adaptor 2 gene DOID:630 genetic disease ISO RGD:1604738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352861 PHETA2 PH domain containing endocytic trafficking adaptor 2 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1604738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 12352900 TMC4 transmembrane channel like 4 gene DOID:630 genetic disease ISO RGD:1312473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352928 H1-10 H1.10 linker histone gene DOID:0080600 COVID-19 ISO RGD:1354284 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12352928 H1-10 H1.10 linker histone gene DOID:0111947 immunodeficiency 21 ISO RGD:1354284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12352928 H1-10 H1.10 linker histone gene DOID:3910 lung adenocarcinoma ISO RGD:1620558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12352928 H1-10 H1.10 linker histone gene DOID:630 genetic disease ISO RGD:1354284 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352928 H1-10 H1.10 linker histone gene DOID:9006205 Animal Disease Models ISO RGD:1620558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12352928 H1-10 H1.10 linker histone gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1354284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 12352928 H1-10 H1.10 linker histone gene DOID:9270 alkaptonuria ISO RGD:1354284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12352933 IQCN IQ motif containing N gene DOID:630 genetic disease ISO RGD:1353790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352933 IQCN IQ motif containing N gene DOID:9006326 Spermatogenic Failure 78 ISO RGD:1353790 D RGD:7240710 20221221 OMIM 12352933 IQCN IQ motif containing N gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1353790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12352943 SART3 spliceosome associated factor 3, U4/U6 recycling protein gene DOID:630 genetic disease ISO RGD:1323212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352943 SART3 spliceosome associated factor 3, U4/U6 recycling protein gene DOID:9000408 Porokeratosis 3, Multiple Types ISO RGD:1323212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1 PMID:15840095|PMID:17392836 12352970 SLC35E4 solute carrier family 35 member E4 gene DOID:630 genetic disease ISO RGD:1602959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352976 CCDC116 coiled-coil domain containing 116 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1602289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 12352976 CCDC116 coiled-coil domain containing 116 gene DOID:11198 DiGeorge syndrome ISO RGD:1602289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 12352976 CCDC116 coiled-coil domain containing 116 gene DOID:1324 lung cancer ISO RGD:1602289 D RGD:9068941 20220721 RGD DNA:SNP:promoter:rs3747093 (human) PMID:29193083|REF_RGD_ID:153297750 12352976 CCDC116 coiled-coil domain containing 116 gene DOID:630 genetic disease ISO RGD:1602289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352995 ATF7IP activating transcription factor 7 interacting protein gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1314412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12352995 ATF7IP activating transcription factor 7 interacting protein gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1314412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12352995 ATF7IP activating transcription factor 7 interacting protein gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1314412 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413735 12352995 ATF7IP activating transcription factor 7 interacting protein gene DOID:630 genetic disease ISO RGD:1314412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12352995 ATF7IP activating transcription factor 7 interacting protein gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1314412 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20543847 12352995 ATF7IP activating transcription factor 7 interacting protein gene DOID:9004207 Testicular Neoplasms ISO RGD:1314412 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20543847 12353041 TEKT4 tektin 4 gene DOID:630 genetic disease ISO RGD:1604519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353051 DDAH1 dimethylarginine dimethylaminohydrolase 1 gene DOID:10763 hypertension susceptibility ISO RGD:1343347 D RGD:9068941 20200609 RGD PMID:16444868|REF_RGD_ID:1625582 12353051 DDAH1 dimethylarginine dimethylaminohydrolase 1 gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:1343347 D RGD:9068941 20200609 RGD PMID:16444868|REF_RGD_ID:1625582 12353051 DDAH1 dimethylarginine dimethylaminohydrolase 1 gene DOID:409 liver disease ISO RGD:1343347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12353051 DDAH1 dimethylarginine dimethylaminohydrolase 1 gene DOID:630 genetic disease ISO RGD:1343347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353051 DDAH1 dimethylarginine dimethylaminohydrolase 1 gene DOID:9001820 Pulmonary Arterial Hypertension exacerbates ISO XCO:0000642 D RGD:9068941 20220204 RGD compared to wild type PMID:31402164|REF_RGD_ID:151347602 12353064 AWAT1 acyl-CoA wax alcohol acyltransferase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12353064 AWAT1 acyl-CoA wax alcohol acyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1346796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12353064 AWAT1 acyl-CoA wax alcohol acyltransferase 1 gene DOID:630 genetic disease ISO RGD:1346796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353075 PLXDC2 plexin domain containing 2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1314300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder 12353075 PLXDC2 plexin domain containing 2 gene DOID:630 genetic disease ISO RGD:1314300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353097 LAMA2 laminin subunit alpha 2 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1318918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy 12353097 LAMA2 laminin subunit alpha 2 gene DOID:0050741 alcohol dependence ISO RGD:1318918 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Alcohol dependence PMID:25741868 12353097 LAMA2 laminin subunit alpha 2 gene DOID:0080600 COVID-19 ISO RGD:1318918 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12353097 LAMA2 laminin subunit alpha 2 gene DOID:0080918 polymicrogyria ISO RGD:1318918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:20207543|PMID:25741868|PMID:28492532|PMID:29706646 12353097 LAMA2 laminin subunit alpha 2 gene DOID:0110636 congenital merosin-deficient muscular dystrophy 1A ISO RGD:1318918 D RGD:7240710 20180130 OMIM 12353097 LAMA2 laminin subunit alpha 2 gene DOID:0110636 congenital merosin-deficient muscular dystrophy 1A ISO RGD:1318918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy PMID:10022829|PMID:10611118|PMID:1061118|PMID:10619025|PMID:10694916|PMID:10747011|PMID:10852549|PMID:11071490|PMID:11287370|PMID:11369186|PMID:11591858|PMID:11938437|PMID:12100448|PMID:12552556|PMID:12601554|PMID:16199547|PMID:16216942|PMID:16770791|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19294599|PMID:19388593|PMID:19763152|PMID:20207543|PMID:20307669|PMID:2152033|PMID:21520333|PMID:21896784|PMID:21922472|PMID:21953594|PMID:22166137|PMID:22406018|PMID:22426012|PMID:22675738|PMID:23326386|PMID:23757202|PMID:23911319|PMID:24033266|PMID:24082139|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25214167|PMID:25326637|PMID:25332755|PMID:25525159|PMID:25640679|PMID:25663498|PMID:25741868|PMID:26104111|PMID:26304763|PMID:26436962|PMID:26467025|PMID:26607181|PMID:26633542|PMID:26962340|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27357428|PMID:27447704|PMID:27708273|PMID:27854218|PMID:27858741|PMID:27858771|PMID:27896284|PMID:27932089|PMID:28182637|PMID:28445022|PMID:28492532|PMID:28554332|PMID:28688748|PMID:28877744|PMID:29172004|PMID:29212164|PMID:29376585|PMID:29382405|PMID:29465610|PMID:29706646|PMID:29707938|PMID:29773157|PMID:30055037|PMID:30147969|PMID:30293248|PMID:30301903|PMID:30373198|PMID:30827497|PMID:31066047|PMID:31066050|PMID:31130284|PMID:31309178|PMID:31395899|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32444167|PMID:32509318|PMID:32528171|PMID:32827036|PMID:32860008|PMID:32904964|PMID:32936536|PMID:33077954|PMID:33219631|PMID:33442022|PMID:34103343|PMID:34281576|PMID:34528292|PMID:7550355|PMID:8957020|PMID:9158149|PMID:9185182|PMID:9536098|PMID:9541105|PMID:9674786|PMID:9829280 12353097 LAMA2 laminin subunit alpha 2 gene DOID:0110636 congenital merosin-deficient muscular dystrophy 1A ISO RGD:1318918 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy PMID:10022829|PMID:10611118|PMID:1061118|PMID:10619025|PMID:10694916|PMID:10747011|PMID:10852549|PMID:11071490|PMID:11287370|PMID:11369186|PMID:11591858|PMID:11938437|PMID:12100448|PMID:12552556|PMID:12601554|PMID:16199547|PMID:16216942|PMID:16770791|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19294599|PMID:19388593|PMID:19763152|PMID:20207543|PMID:20307669|PMID:2152033|PMID:21520333|PMID:21896784|PMID:21922472|PMID:21953594|PMID:22166137|PMID:22406018|PMID:22426012|PMID:22675738|PMID:23326386|PMID:23757202|PMID:23911319|PMID:24033266|PMID:24082139|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25214167|PMID:25326637|PMID:25332755|PMID:25525159|PMID:25640679|PMID:25663498|PMID:25741868|PMID:26104111|PMID:26304763|PMID:26436962|PMID:26467025|PMID:26607181|PMID:26633542|PMID:26962340|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27357428|PMID:27447704|PMID:27708273|PMID:27854218|PMID:27858741|PMID:27858771|PMID:27896284|PMID:27932089|PMID:28182637|PMID:28445022|PMID:28492532|PMID:28554332|PMID:28688748|PMID:28877744|PMID:29172004|PMID:29212164|PMID:29376585|PMID:29382405|PMID:29465610|PMID:29706646|PMID:29707938|PMID:29773157|PMID:30055037|PMID:30147969|PMID:30293248|PMID:30301903|PMID:30373198|PMID:30827497|PMID:31040037|PMID:31066047|PMID:31066050|PMID:31130284|PMID:31309178|PMID:31395899|PMID:31694722|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32444167|PMID:32509318|PMID:32528171|PMID:32827036|PMID:32860008|PMID:32904964|PMID:32936536|PMID:33077954|PMID:33219631|PMID:33442022|PMID:34103343|PMID:34281576|PMID:34528292|PMID:7550355|PMID:8957020|PMID:9158149|PMID:9185182|PMID:9536098|PMID:9541105|PMID:9674786|PMID:9829280 12353097 LAMA2 laminin subunit alpha 2 gene DOID:0110636 congenital merosin-deficient muscular dystrophy 1A treatment ISO RGD:1318919 D RGD:9068941 20200609 RGD PMID:28714989|REF_RGD_ID:13605609 12353097 LAMA2 laminin subunit alpha 2 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1318918 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:18700894|PMID:25741868|PMID:28445022|PMID:28492532|PMID:30055037|PMID:32904964|PMID:9674786 12353097 LAMA2 laminin subunit alpha 2 gene DOID:1059 intellectual disability ISO RGD:1318918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities PMID:24082139|PMID:24611677|PMID:25741868|PMID:26467025|PMID:27896284|PMID:28492532 12353097 LAMA2 laminin subunit alpha 2 gene DOID:1059 intellectual disability ISO RGD:1318918 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities PMID:24082139|PMID:24611677|PMID:25741868|PMID:26467025|PMID:27896284|PMID:28492532|PMID:31066047|PMID:31395899|PMID:33442022|PMID:34281576 12353097 LAMA2 laminin subunit alpha 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1318918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25648254 12353097 LAMA2 laminin subunit alpha 2 gene DOID:11054 urinary bladder cancer ISO RGD:1318918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 12353097 LAMA2 laminin subunit alpha 2 gene DOID:11830 myopia ISO RGD:1318918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 12353097 LAMA2 laminin subunit alpha 2 gene DOID:11830 myopia susceptibility ISO RGD:1318918 D RGD:9068941 20200609 RGD DNA:SNP: :rs12205363(human) PMID:27611182|REF_RGD_ID:13605610 12353097 LAMA2 laminin subunit alpha 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1318918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 12353097 LAMA2 laminin subunit alpha 2 gene DOID:1574 alcohol use disorder ISO RGD:1318918 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Alcohol dependence PMID:25741868 12353097 LAMA2 laminin subunit alpha 2 gene DOID:1591 renovascular hypertension ISO RGD:1308889 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:10773239|REF_RGD_ID:1600206 12353097 LAMA2 laminin subunit alpha 2 gene DOID:5419 schizophrenia ISO RGD:1318918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266|PMID:23042115 12353097 LAMA2 laminin subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1318918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10611118|PMID:11938437|PMID:12552556|PMID:12601554|PMID:16199547|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:20207543|PMID:21520333|PMID:21953594|PMID:22675738|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:25214167|PMID:25525159|PMID:25741868|PMID:26304763|PMID:26467025|PMID:26962340|PMID:28492532|PMID:29376585|PMID:30055037|PMID:30827497|PMID:32266982|PMID:32827036|PMID:32904964|PMID:32936536|PMID:33077954|PMID:33219631|PMID:34528292|PMID:9536098|PMID:9541105|PMID:9674786|PMID:9829280 12353097 LAMA2 laminin subunit alpha 2 gene DOID:9003760 Myalgia ISO RGD:1318918 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myalgia PMID:18700894|PMID:25741868|PMID:28445022|PMID:28492532|PMID:30055037|PMID:32904964|PMID:9674786 12353097 LAMA2 laminin subunit alpha 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1308889 D RGD:9068941 20200609 RGD PMID:10335943|REF_RGD_ID:1600207 12353097 LAMA2 laminin subunit alpha 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:1318918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia 12353097 LAMA2 laminin subunit alpha 2 gene DOID:9007352 Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency ISO RGD:1318918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to partial LAMA2 deficiency PMID:10611118|PMID:10852549|PMID:11071490|PMID:12100448|PMID:12552556|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18700894|PMID:20207543|PMID:21520333|PMID:21896784|PMID:21953594|PMID:22166137|PMID:22426012|PMID:23326386|PMID:24082139|PMID:24223650|PMID:24225367|PMID:24611677|PMID:24957499|PMID:25525159|PMID:25587058|PMID:25741868|PMID:26467025|PMID:26607181|PMID:27159402|PMID:27353517|PMID:27854218|PMID:27896284|PMID:28182637|PMID:28492532|PMID:28688748|PMID:29706646|PMID:30055037|PMID:30301903|PMID:30827497|PMID:31066047|PMID:31395899|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32904964|PMID:33442022|PMID:34281576|PMID:34528292|PMID:8957020|PMID:9158149|PMID:9536098|PMID:9541105|PMID:9674786 12353097 LAMA2 laminin subunit alpha 2 gene DOID:9008732 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 ISO RGD:1318918 D RGD:7240710 20190315 OMIM 12353097 LAMA2 laminin subunit alpha 2 gene DOID:9008732 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 ISO RGD:1318918 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23 PMID:10611118|PMID:11071490|PMID:11369186|PMID:11938437|PMID:12100448|PMID:12552556|PMID:12601554|PMID:16199547|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19388593|PMID:20207543|PMID:21520333|PMID:21922472|PMID:21953594|PMID:22166137|PMID:22426012|PMID:22675738|PMID:24223650|PMID:24225367|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25214167|PMID:25332755|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26607181|PMID:26962340|PMID:27159402|PMID:27353517|PMID:27708273|PMID:27854218|PMID:27932089|PMID:28492532|PMID:28554332|PMID:28688748|PMID:29212164|PMID:29376585|PMID:29706646|PMID:29773157|PMID:30055037|PMID:30373198|PMID:30827497|PMID:31309178|PMID:31983221|PMID:32266982|PMID:32444167|PMID:32827036|PMID:32904964|PMID:33077954|PMID:8957020|PMID:9158149|PMID:9536098|PMID:9541105|PMID:9674786 12353097 LAMA2 laminin subunit alpha 2 gene DOID:9884 muscular dystrophy ISO RGD:1318918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:25741868|PMID:28492532 12353097 LAMA2 laminin subunit alpha 2 gene DOID:9884 muscular dystrophy susceptibility ISO RGD:1318918 D RGD:9068941 20200609 RGD DNA:splice-site mutation, nonsense mutation PMID:7550355|REF_RGD_ID:1600200 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1349807 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:0111955 immunodeficiency 27A ISO RGD:1349807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:10192386|PMID:10811850|PMID:11583830|PMID:12516030|PMID:12712974|PMID:12743658|PMID:15589309|PMID:16690980|PMID:18171304|PMID:18593809|PMID:19488747|PMID:19880337|PMID:19880857|PMID:20015550|PMID:21448974|PMID:24033266|PMID:24199198|PMID:25216720|PMID:25592983|PMID:25741868|PMID:26060819|PMID:26173802|PMID:26343451|PMID:27356097|PMID:28492532|PMID:28902581|PMID:8960473|PMID:8960475|PMID:9142806|PMID:9389728|PMID:9497247|PMID:9806040 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:0111955 immunodeficiency 27A susceptibility ISO RGD:1349807 D RGD:7240710 20230505 OMIM 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:0111956 immunodeficiency 27B ISO RGD:1349807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency PMID:10192386|PMID:11583830|PMID:12712974|PMID:15589309|PMID:16867158|PMID:18171304|PMID:19880337|PMID:20015550|PMID:24033266|PMID:25216720|PMID:25741868|PMID:28492532|PMID:28902581|PMID:8960473|PMID:9806040 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:0111956 immunodeficiency 27B susceptibility ISO RGD:1349807 D RGD:7240710 20230505 OMIM 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:11476 osteoporosis ISO RGD:1551263 D RGD:9068941 20220825 MouseDO OMIM:166710 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:12155 lymphocytic choriomeningitis ameliorates ISO RGD:1551263 D RGD:9068941 20210326 RGD PMID:22496215|REF_RGD_ID:124715469 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:13141 uveitis ISO RGD:1349807 D RGD:9068941 20200609 RGD associated with Behcet's disease PMID:29534057|REF_RGD_ID:14974251 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:2043 hepatitis B ISO RGD:1349807 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HBV, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hepatitis B virus, susceptibility to PMID:10192386|PMID:11583830|PMID:12516030|PMID:16690980|PMID:18171304|PMID:19488747|PMID:20015550|PMID:25741868|PMID:28492532|PMID:28902581 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:2043 hepatitis B susceptibility ISO RGD:1349807 D RGD:7240710 20190502 OMIM 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:2349 arteriosclerosis ISO RGD:1349807 D RGD:9068941 20200609 RGD PMID:20655098|REF_RGD_ID:6480271 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:2841 asthma ISO RGD:1349807 D RGD:9068941 20200609 RGD DNA: SNP: Leu467Pro PMID:12851715|REF_RGD_ID:6480431 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:2841 asthma ISO RGD:1551263 D RGD:9068941 20200609 RGD PMID:21737883|REF_RGD_ID:6480255 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:289 endometriosis ISO RGD:1349807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:399 tuberculosis ISO RGD:1349807 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:10192386|PMID:11583830|PMID:12516030|PMID:16690980|PMID:18171304|PMID:19488747|PMID:20015550|PMID:25741868|PMID:28492532|PMID:28902581|PMID:9389728 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:399 tuberculosis susceptibility ISO RGD:1349807 D RGD:7240710 20190502 OMIM 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1349807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:12712974|PMID:15589309|PMID:19880337|PMID:24033266|PMID:25216720|PMID:25741868|PMID:28492532|PMID:8960473|PMID:9806040 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:630 genetic disease ISO RGD:1349807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:1349807 D RGD:9068941 20200609 RGD mRNA: increased expression PMID:20808962|REF_RGD_ID:4892610 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:824 periodontitis ISO RGD:1349807 D RGD:9068941 20200609 RGD PMID:20655098|REF_RGD_ID:6480271 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:9000099 Experimental Colitis ameliorates ISO RGD:1551263 D RGD:9068941 20210326 RGD PMID:25918247|REF_RGD_ID:124715468 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:9001415 Mycobacterium Infections ISO RGD:1349807 D RGD:9068941 20200609 RGD DNA: missense mutations: cds: I87T; V63G PMID:21266457|REF_RGD_ID:6480268 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:9001415 Mycobacterium Infections ISO RGD:1349807 D RGD:9068941 20200609 RGD DNA: mutation PMID:15589309|REF_RGD_ID:6480429 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1349807 D RGD:9068941 20200609 RGD DNA: SNP: Leu467Pro PMID:12851715|REF_RGD_ID:6480431 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:9004697 Interferon Gamma, Receptor 1, Deficiency ISO RGD:1349807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Interferon gamma receptor 1 deficiency | ClinVar Annotator: match by term: Interferon gamma receptor deficiency PMID:10192386|PMID:11583830|PMID:12516030|PMID:16199547|PMID:18171304|PMID:18593809|PMID:20015550|PMID:25741868|PMID:28492532|PMID:28902581|PMID:8960473|PMID:9806040 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1349807 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:10192386|PMID:10480427|PMID:10811850|PMID:11583830|PMID:12516030|PMID:12712974|PMID:12743658|PMID:15589309|PMID:16199547|PMID:16690980|PMID:17251453|PMID:17513528|PMID:17514500|PMID:17576681|PMID:18171304|PMID:18593809|PMID:19488747|PMID:19880337|PMID:20015550|PMID:21448974|PMID:24033266|PMID:24199198|PMID:24220318|PMID:25216720|PMID:25741868|PMID:26060819|PMID:26173802|PMID:26343451|PMID:26642243|PMID:27356097|PMID:28492532|PMID:28744922|PMID:28902581|PMID:29572183|PMID:8960473|PMID:9389728|PMID:9536098|PMID:9806040 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:9004729 Nontuberculous Mycobacterium Infections susceptibility ISO RGD:1349807 D RGD:9068941 20200609 RGD DNA:nonsense mutation PMID:8960473|REF_RGD_ID:1624283 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1349807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:9007356 Eczema ISO RGD:1551263 D RGD:9068941 20200609 RGD DNA: insertion: exon 5: neo cassette PMID:21458658|REF_RGD_ID:6480259 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:9007356 Eczema resistance ISO RGD:1349807 D RGD:9068941 20200609 RGD DNA: snps: rs7749390, rs10457655 PMID:21458658|REF_RGD_ID:6480259 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:1349807 D RGD:9068941 20200609 RGD DNA: SNP: Leu467Pro PMID:12851715|REF_RGD_ID:6480431 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:9008114 Helicobacter Infections ISO RGD:1349807 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Helicobacter pylori infection, susceptibility to PMID:10192386|PMID:11583830|PMID:12516030|PMID:16690980|PMID:18171304|PMID:19488747|PMID:20015550|PMID:25741868|PMID:28492532|PMID:28902581 12353170 IFNGR1 interferon gamma receptor 1 gene DOID:9008114 Helicobacter Infections susceptibility ISO RGD:1349807 D RGD:7240710 20190502 OMIM 12353196 DUOX2 dual oxidase 2 gene DOID:0050328 congenital hypothyroidism ISO RGD:1353863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:12110737|PMID:16322276|PMID:16608528|PMID:17121535|PMID:18765513|PMID:19789206|PMID:20972728|PMID:21565790|PMID:24033266|PMID:24423310|PMID:24735383|PMID:25741868|PMID:26990548|PMID:27525530|PMID:27557340|PMID:27821020|PMID:28492532|PMID:28666341|PMID:30084132|PMID:30240412|PMID:30487145|PMID:31044655|PMID:32765423 12353196 DUOX2 dual oxidase 2 gene DOID:0050712 AGAT deficiency ISO RGD:1353863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 12353196 DUOX2 dual oxidase 2 gene DOID:0112183 familial thyroid dyshormonogenesis ISO RGD:1353863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial thyroid dyshormonogenesis PMID:12110737|PMID:16322276|PMID:18765513|PMID:20972728|PMID:21565790|PMID:21900383|PMID:23457309|PMID:24033266|PMID:24423310|PMID:24735383|PMID:25248169|PMID:25741868|PMID:26709262|PMID:26990548|PMID:27525530|PMID:27821020|PMID:28492532|PMID:28666341|PMID:29092890|PMID:29650690|PMID:30084132|PMID:30240412|PMID:30487145|PMID:31044655|PMID:32765423 12353196 DUOX2 dual oxidase 2 gene DOID:0112189 thyroid dyshormonogenesis 6 ISO RGD:1353863 D RGD:7240710 20180130 OMIM 12353196 DUOX2 dual oxidase 2 gene DOID:0112189 thyroid dyshormonogenesis 6 ISO RGD:1353863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thyroid dyshormonogenesis 6 PMID:12110737|PMID:16134168|PMID:16199547|PMID:16322276|PMID:16608528|PMID:17121535|PMID:17374849|PMID:17576681|PMID:18765513|PMID:19789206|PMID:20187165|PMID:20972728|PMID:21565790|PMID:21900383|PMID:22336364|PMID:23457309|PMID:24033266|PMID:24127536|PMID:24423310|PMID:24735383|PMID:25248169|PMID:25616291|PMID:25741868|PMID:25928756|PMID:26301257|PMID:26334177|PMID:26349762|PMID:26565538|PMID:26709262|PMID:26742565|PMID:26990548|PMID:27108200|PMID:27166716|PMID:27349010|PMID:27498126|PMID:27525530|PMID:27557340|PMID:27821020|PMID:28444304|PMID:28492532|PMID:28541007|PMID:28648510|PMID:28666341|PMID:28683258|PMID:29092890|PMID:29546359|PMID:29650690|PMID:30022773|PMID:30084132|PMID:30154845|PMID:30240412|PMID:30487145|PMID:30512158|PMID:30894704|PMID:31030636|PMID:31044655|PMID:32319661|PMID:32425884|PMID:32459320|PMID:32765423|PMID:33631011|PMID:34248839|PMID:34276565|PMID:34564849|PMID:9536098 12353196 DUOX2 dual oxidase 2 gene DOID:1498 cholera treatment ISO RGD:1353863 D RGD:9068941 20210122 RGD PMID:29133347|REF_RGD_ID:40925924 12353196 DUOX2 dual oxidase 2 gene DOID:2717 Bloom syndrome ISO RGD:1353863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12353196 DUOX2 dual oxidase 2 gene DOID:50 thyroid gland disease ISO RGD:1353863 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Abnormal circulating thyroid hormone concentration PMID:25741868 12353196 DUOX2 dual oxidase 2 gene DOID:630 genetic disease ISO RGD:1353863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12110737|PMID:16322276|PMID:17576681|PMID:18765513|PMID:19789206|PMID:20972728|PMID:21565790|PMID:21900383|PMID:23457309|PMID:24033266|PMID:24127536|PMID:24423310|PMID:24735383|PMID:25248169|PMID:25741868|PMID:26709262|PMID:26990548|PMID:27525530|PMID:27821020|PMID:28492532|PMID:28666341|PMID:29092890|PMID:29650690|PMID:30084132|PMID:30240412|PMID:30375286|PMID:30487145|PMID:31044655|PMID:31867598|PMID:32319661|PMID:32765423|PMID:9536098 12353196 DUOX2 dual oxidase 2 gene DOID:8577 ulcerative colitis ISO RGD:1353863 D RGD:9068941 20210122 RGD mRNA:increased expression:colon (human) PMID:19759286|REF_RGD_ID:40924645 12353196 DUOX2 dual oxidase 2 gene DOID:8778 Crohn's disease ISO RGD:1353863 D RGD:9068941 20210122 RGD mRNA:increased expression:colon (human) PMID:19759286|REF_RGD_ID:40924645 12353196 DUOX2 dual oxidase 2 gene DOID:9000371 influenza A severity ISO RGD:1332300 D RGD:9068941 20210122 RGD PMID:25751630|PMID:28936773|PMID:29556357|REF_RGD_ID:40924644|REF_RGD_ID:40925921|REF_RGD_ID:40925925 12353196 DUOX2 dual oxidase 2 gene DOID:9007120 Meckel Syndrome 11 ISO RGD:1353863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 11 PMID:21565790|PMID:25741868|PMID:28492532 12353196 DUOX2 dual oxidase 2 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:1353863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 12353196 DUOX2 dual oxidase 2 gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:1353863 D RGD:9068941 20210115 RGD mRNA,protein:decreased expression:mucosa of stomach (human) PMID:27048452|REF_RGD_ID:40924640 12353196 DUOX2 dual oxidase 2 gene DOID:9256 colorectal cancer ISO RGD:1353863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12353227 KDM3B lysine demethylase 3B gene DOID:0060041 autism spectrum disorder ISO RGD:1343523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12353227 KDM3B lysine demethylase 3B gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1343523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12353227 KDM3B lysine demethylase 3B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343523 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12353227 KDM3B lysine demethylase 3B gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:1343523 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 PMID:25741868 12353227 KDM3B lysine demethylase 3B gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1343523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12353227 KDM3B lysine demethylase 3B gene DOID:11832 visual epilepsy ISO RGD:1583423 D RGD:9068941 20200609 RGD PMID:24397026|REF_RGD_ID:9590119 12353227 KDM3B lysine demethylase 3B gene DOID:1612 breast cancer severity ISO RGD:1343523 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast (human) PMID:23266085|REF_RGD_ID:9586731 12353227 KDM3B lysine demethylase 3B gene DOID:1826 epilepsy ISO RGD:1343523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rare genetic epilepsy PMID:25741868 12353227 KDM3B lysine demethylase 3B gene DOID:2030 anxiety disorder ISO RGD:1583423 D RGD:9068941 20200609 RGD PMID:24397026|REF_RGD_ID:9590119 12353227 KDM3B lysine demethylase 3B gene DOID:3908 lung non-small cell carcinoma ISO RGD:1343523 D RGD:9068941 20200609 RGD DNA:amplification:lung, peripheral blood mononuclear cell (human) PMID:18975135|REF_RGD_ID:9586737 12353227 KDM3B lysine demethylase 3B gene DOID:630 genetic disease ISO RGD:1343523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:30929739 12353227 KDM3B lysine demethylase 3B gene DOID:9000659 Heavy Metal Toxicity ISO RGD:1343523 D RGD:9068941 20210312 CTD CTD Direct Evidence: therapeutic PMID:21262293 12353227 KDM3B lysine demethylase 3B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12353227 KDM3B lysine demethylase 3B gene DOID:9005801 Diets-Jongmans Syndrome ISO RGD:1343523 D RGD:7240710 20200624 OMIM 12353227 KDM3B lysine demethylase 3B gene DOID:9005801 Diets-Jongmans Syndrome ISO RGD:1343523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diets-Jongmans syndrome PMID:25741868|PMID:29351919|PMID:30929739 12353227 KDM3B lysine demethylase 3B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343523 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12353227 KDM3B lysine demethylase 3B gene DOID:9008086 Developmental Disabilities ISO RGD:1343523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12353227 KDM3B lysine demethylase 3B gene DOID:9008582 Developmental Disease ISO RGD:1343523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12353227 KDM3B lysine demethylase 3B gene DOID:9256 colorectal cancer severity ISO RGD:1343523 D RGD:9068941 20200609 RGD protein:decreased expression:colon mucosa (human) PMID:22345654|REF_RGD_ID:9586735 12353227 KDM3B lysine demethylase 3B gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1343523 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow, mononuclear cell (human) PMID:22615488|REF_RGD_ID:9586728 12353255 ENY2 ENY2 transcription and export complex 2 subunit gene DOID:630 genetic disease ISO RGD:1601985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353267 BSG basigin gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:10249 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12353267 BSG basigin gene DOID:0080600 COVID-19 ISO RGD:10249 D RGD:9068941 20210312 CTD CTD Direct Evidence: therapeutic PMID:32307653 12353267 BSG basigin gene DOID:14067 Plasmodium falciparum malaria ISO RGD:10249 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22080952|PMID:26195724 12353267 BSG basigin gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:10249 D RGD:9068941 20200609 RGD PMID:17671123|REF_RGD_ID:2289051 12353267 BSG basigin gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:10249 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:17342307|REF_RGD_ID:2296029 12353267 BSG basigin gene DOID:3007 breast ductal carcinoma ISO RGD:10249 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:9154157|REF_RGD_ID:2289059 12353267 BSG basigin gene DOID:3907 lung squamous cell carcinoma ISO RGD:10249 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:9154157|REF_RGD_ID:2289059 12353267 BSG basigin gene DOID:4362 cervical cancer disease_progression ISO RGD:10249 D RGD:9068941 20200609 RGD PMID:18223224|REF_RGD_ID:2296028 12353267 BSG basigin gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:10249 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17021824|REF_RGD_ID:2289052 12353267 BSG basigin gene DOID:5744 ovary serous adenocarcinoma ISO RGD:10249 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:16633062|REF_RGD_ID:2289053 12353267 BSG basigin gene DOID:630 genetic disease ISO RGD:10249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353267 BSG basigin gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:10249 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:16004819|REF_RGD_ID:2289055 12353267 BSG basigin gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:10249 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18647594 12353267 BSG basigin gene DOID:9000965 Neoplasm Metastasis ISO RGD:10249 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21956400 12353267 BSG basigin gene DOID:9002170 Experimental Neoplasms ISO RGD:10249 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21165561 12353267 BSG basigin gene DOID:9002304 Prostatic Neoplasms ISO RGD:10249 D RGD:9068941 20200609 RGD PMID:16627983|REF_RGD_ID:2289054 12353267 BSG basigin gene DOID:9004009 Reperfusion Injury ISO RGD:2220 D RGD:9068941 20200609 RGD protein:increased expression:basal ganglia PMID:16029217|REF_RGD_ID:2289063 12353267 BSG basigin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:10249 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21165561 12353267 BSG basigin gene DOID:9007456 Female Infertility ISO RGD:10248 D RGD:9068941 20200609 RGD PMID:9559645|REF_RGD_ID:734663 12353279 CPN1 carboxypeptidase N subunit 1 gene DOID:0111583 carboxypeptidase N deficiency ISO RGD:734334 D RGD:7240710 20180130 OMIM 12353279 CPN1 carboxypeptidase N subunit 1 gene DOID:0111583 carboxypeptidase N deficiency ISO RGD:734334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anaphylotoxin inactivator deficiency PMID:12560874|PMID:24033266|PMID:7437116 12353279 CPN1 carboxypeptidase N subunit 1 gene DOID:630 genetic disease ISO RGD:734334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353298 N4BP1 NEDD4 binding protein 1 gene DOID:630 genetic disease ISO RGD:1605706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353309 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndrome PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 12353309 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1349504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12353309 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12353309 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:11476 osteoporosis ISO RGD:1349504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12353309 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 12353309 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:363 uterine cancer ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 12353309 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 12353309 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 12353309 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1349504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12353309 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 12353309 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 12353309 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:630 genetic disease ISO RGD:1349504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353309 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1349504 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12353309 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12353309 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 12353309 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 12353309 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:9263 homocystinuria ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12353309 U2AF1 U2 small nuclear RNA auxiliary factor 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1349504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12353331 SPATA16 spermatogenesis associated 16 gene DOID:0070167 spermatogenic failure 6 ISO RGD:1351808 D RGD:7240710 20180130 OMIM 12353331 SPATA16 spermatogenesis associated 16 gene DOID:0070167 spermatogenic failure 6 ISO RGD:1351808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Globozoospermia PMID:17847006|PMID:24265589|PMID:25741868|PMID:28492532|PMID:29065458 12353331 SPATA16 spermatogenesis associated 16 gene DOID:0111910 spermatogenic failure ISO RGD:1351808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic Failure 12353331 SPATA16 spermatogenesis associated 16 gene DOID:0112312 male infertility due to globozoospermia ISO RGD:1351808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Globozoospermia PMID:17847006|PMID:24265589|PMID:25741868|PMID:28492532|PMID:29065458 12353331 SPATA16 spermatogenesis associated 16 gene DOID:1062 Fanconi syndrome ISO RGD:1351808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 12353331 SPATA16 spermatogenesis associated 16 gene DOID:12336 male infertility ISO RGD:1557391 D RGD:9068941 20220825 MouseDO 12353331 SPATA16 spermatogenesis associated 16 gene DOID:630 genetic disease ISO RGD:1351808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353356 CCDC88C coiled-coil domain containing 88C gene DOID:0050952 spastic ataxia ISO RGD:1604894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 12353356 CCDC88C coiled-coil domain containing 88C gene DOID:0050986 spinocerebellar ataxia type 40 ISO RGD:1604894 D RGD:7240710 20180130 OMIM 12353356 CCDC88C coiled-coil domain containing 88C gene DOID:0050986 spinocerebellar ataxia type 40 ISO RGD:1604894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 40 PMID:18414213|PMID:25062847|PMID:25741868|PMID:28492532 12353356 CCDC88C coiled-coil domain containing 88C gene DOID:0080054 achondrogenesis type IA ISO RGD:1604894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12353356 CCDC88C coiled-coil domain containing 88C gene DOID:10908 hydrocephalus ISO RGD:1604894 D RGD:7240710 20180130 OMIM 12353356 CCDC88C coiled-coil domain containing 88C gene DOID:10908 hydrocephalus ISO RGD:1604894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrocephalus | ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 1 PMID:18414213|PMID:21031079|PMID:23042809|PMID:25062847|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29225145 12353356 CCDC88C coiled-coil domain containing 88C gene DOID:630 genetic disease ISO RGD:1604894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:21031079|PMID:25062847|PMID:25741868|PMID:26467025|PMID:27652284|PMID:28492532 12353356 CCDC88C coiled-coil domain containing 88C gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1604894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12353390 TMPRSS11A transmembrane serine protease 11A gene DOID:630 genetic disease ISO RGD:1605232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353390 TMPRSS11A transmembrane serine protease 11A gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1605232 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12353404 WARS2 tryptophanyl tRNA synthetase 2, mitochondrial gene DOID:0050722 PHGDH deficiency ISO RGD:1318471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:14645240|PMID:24836451|PMID:28492532 12353404 WARS2 tryptophanyl tRNA synthetase 2, mitochondrial gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1318471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 12353404 WARS2 tryptophanyl tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1318471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28236339|PMID:28492532|PMID:28554332|PMID:28650581|PMID:28905505|PMID:29120065|PMID:29783990|PMID:30831263|PMID:30920170|PMID:31282308|PMID:31970218|PMID:32120303|PMID:33972171|PMID:34890876|PMID:35074316|PMID:9536098 12353404 WARS2 tryptophanyl tRNA synthetase 2, mitochondrial gene DOID:9001163 Parkinsonism-Dystonia, Childhood-Onset, 3 ISO RGD:1318471 D RGD:7240710 20220223 OMIM 12353404 WARS2 tryptophanyl tRNA synthetase 2, mitochondrial gene DOID:9001163 Parkinsonism-Dystonia, Childhood-Onset, 3 ISO RGD:1318471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia 3, childhood-onset PMID:25741868|PMID:28236339|PMID:28492532|PMID:28905505|PMID:29120065|PMID:30831263|PMID:31970218|PMID:32120303|PMID:34890876 12353404 WARS2 tryptophanyl tRNA synthetase 2, mitochondrial gene DOID:9002540 Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures ISO RGD:1318471 D RGD:7240710 20190315 OMIM 12353404 WARS2 tryptophanyl tRNA synthetase 2, mitochondrial gene DOID:9002540 Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures ISO RGD:1318471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures PMID:17576681|PMID:25741868|PMID:28236339|PMID:28492532|PMID:28650581|PMID:28905505|PMID:29120065|PMID:29783990|PMID:30831263|PMID:30920170|PMID:31282308|PMID:31970218|PMID:32120303|PMID:34890876|PMID:35074316|PMID:9536098 12353415 SLC25A19 solute carrier family 25 member 19 gene DOID:10907 microcephaly ISO RGD:1343771 D RGD:9068941 20200609 RGD Microcephaly, Amish type, OMIM:607196;DNA:point mutation:exon:G177A PMID:12185364|REF_RGD_ID:1624242 12353415 SLC25A19 solute carrier family 25 member 19 gene DOID:630 genetic disease ISO RGD:1343771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12353415 SLC25A19 solute carrier family 25 member 19 gene DOID:9004450 Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type) ISO RGD:1343771 D RGD:7240710 20180130 OMIM 12353415 SLC25A19 solute carrier family 25 member 19 gene DOID:9004450 Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type) ISO RGD:1343771 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY | ClinVar Annotator: match by term: Striatal necrosis, bilateral, and progressive polyneuropathy PMID:18414213|PMID:19798730|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31295743|PMID:31506564|PMID:34587972|PMID:35102031 12353415 SLC25A19 solute carrier family 25 member 19 gene DOID:9006375 Amish Lethal Microcephaly ISO RGD:1343771 D RGD:7240710 20180130 OMIM 12353415 SLC25A19 solute carrier family 25 member 19 gene DOID:9006375 Amish Lethal Microcephaly ISO RGD:1343771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amish lethal microcephaly | ClinVar Annotator: match by term: Microcephaly, Amish type | ClinVar Annotator: match by term: THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE) PMID:12185364|PMID:18414213|PMID:19798730|PMID:25741868|PMID:26467025|PMID:28492532 12353440 RNF157 ring finger protein 157 gene DOID:630 genetic disease ISO RGD:1348356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353440 RNF157 ring finger protein 157 gene DOID:684 hepatocellular carcinoma ISO RGD:1348356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12353463 PRDM11 PR/SET domain 11 gene DOID:1059 intellectual disability ISO RGD:1343614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12353479 DNAAF3 dynein axonemal assembly factor 3 gene DOID:0050144 Kartagener syndrome ISO RGD:1602406 D RGD:9068941 20221013 CTD CTD Direct Evidence: marker/mechanism PMID:22387996 12353479 DNAAF3 dynein axonemal assembly factor 3 gene DOID:0050144 Kartagener syndrome ISO RGD:1619616 D RGD:9068941 20221013 MouseDO 12353479 DNAAF3 dynein axonemal assembly factor 3 gene DOID:0050545 visceral heterotaxy ISO RGD:1619616 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 12353479 DNAAF3 dynein axonemal assembly factor 3 gene DOID:0050700 cardiomyopathy ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 12353479 DNAAF3 dynein axonemal assembly factor 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 12353479 DNAAF3 dynein axonemal assembly factor 3 gene DOID:0110313 hypertrophic cardiomyopathy 7 ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 12353479 DNAAF3 dynein axonemal assembly factor 3 gene DOID:0110460 dilated cardiomyopathy 2A ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 2A PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 12353479 DNAAF3 dynein axonemal assembly factor 3 gene DOID:0110626 primary ciliary dyskinesia 2 ISO RGD:1602406 D RGD:7240710 20180130 OMIM 12353479 DNAAF3 dynein axonemal assembly factor 3 gene DOID:0110626 primary ciliary dyskinesia 2 ISO RGD:1602406 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 2 PMID:10745040|PMID:22387996|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31213628|PMID:34401452 12353479 DNAAF3 dynein axonemal assembly factor 3 gene DOID:0110936 nemaline myopathy 5 ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5 PMID:28492532 12353479 DNAAF3 dynein axonemal assembly factor 3 gene DOID:0111425 restrictive cardiomyopathy 1 ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 12353479 DNAAF3 dynein axonemal assembly factor 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 12353479 DNAAF3 dynein axonemal assembly factor 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 12353479 DNAAF3 dynein axonemal assembly factor 3 gene DOID:3191 nemaline myopathy ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Recessive PMID:24033266|PMID:25741868|PMID:28492532 12353479 DNAAF3 dynein axonemal assembly factor 3 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 12353479 DNAAF3 dynein axonemal assembly factor 3 gene DOID:397 restrictive cardiomyopathy ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 12353479 DNAAF3 dynein axonemal assembly factor 3 gene DOID:630 genetic disease ISO RGD:1602406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12353479 DNAAF3 dynein axonemal assembly factor 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1602406 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:10745040|PMID:16199547|PMID:17576681|PMID:22387996|PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30067075|PMID:31213628|PMID:31772028|PMID:31879361|PMID:34401452|PMID:9536098 12353495 TNFAIP8L1 TNF alpha induced protein 8 like 1 gene DOID:630 genetic disease ISO RGD:1603272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353507 KCNA6 potassium voltage-gated channel subfamily A member 6 gene DOID:0050753 cerebellar ataxia ISO RGD:731012 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 12353507 KCNA6 potassium voltage-gated channel subfamily A member 6 gene DOID:0050989 episodic ataxia type 1 ISO RGD:731012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 12353507 KCNA6 potassium voltage-gated channel subfamily A member 6 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:731012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12353507 KCNA6 potassium voltage-gated channel subfamily A member 6 gene DOID:10485 esophageal atresia ISO RGD:731012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12353507 KCNA6 potassium voltage-gated channel subfamily A member 6 gene DOID:1826 epilepsy ISO RGD:731012 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Generalized-onset seizure PMID:25741868 12353507 KCNA6 potassium voltage-gated channel subfamily A member 6 gene DOID:2234 focal epilepsy ISO RGD:731012 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868 12353507 KCNA6 potassium voltage-gated channel subfamily A member 6 gene DOID:630 genetic disease ISO RGD:731012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353507 KCNA6 potassium voltage-gated channel subfamily A member 6 gene DOID:9003816 Macrocephaly ISO RGD:731012 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868 12353507 KCNA6 potassium voltage-gated channel subfamily A member 6 gene DOID:9007573 Flatfoot ISO RGD:731012 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: flatfoot PMID:25741868 12353507 KCNA6 potassium voltage-gated channel subfamily A member 6 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:731012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12353507 KCNA6 potassium voltage-gated channel subfamily A member 6 gene DOID:9834 hyperopia ISO RGD:731012 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperopia PMID:25741868 12353512 ROPN1 rhophilin associated tail protein 1 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1344223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12353512 ROPN1 rhophilin associated tail protein 1 gene DOID:630 genetic disease ISO RGD:1344223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353512 ROPN1 rhophilin associated tail protein 1 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1344223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 12353512 ROPN1 rhophilin associated tail protein 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1344223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12353512 ROPN1 rhophilin associated tail protein 1 gene DOID:9270 alkaptonuria ISO RGD:1344223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12353522 NDST1 N-deacetylase and N-sulfotransferase 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733822 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12353522 NDST1 N-deacetylase and N-sulfotransferase 1 gene DOID:0081210 autosomal recessive intellectual developmental disorder 46 ISO RGD:733822 D RGD:7240710 20180130 OMIM 12353522 NDST1 N-deacetylase and N-sulfotransferase 1 gene DOID:0081210 autosomal recessive intellectual developmental disorder 46 ISO RGD:733822 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 46 PMID:21937992|PMID:25125150|PMID:25741868|PMID:27620904|PMID:27870114|PMID:28492532 12353522 NDST1 N-deacetylase and N-sulfotransferase 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:733822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16020517 12353522 NDST1 N-deacetylase and N-sulfotransferase 1 gene DOID:1059 intellectual disability ISO RGD:733822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12353522 NDST1 N-deacetylase and N-sulfotransferase 1 gene DOID:11198 DiGeorge syndrome ISO RGD:736720 D RGD:9068941 20220825 MouseDO OMIM:188400 12353522 NDST1 N-deacetylase and N-sulfotransferase 1 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:736720 D RGD:9068941 20220825 MouseDO OMIM:267450 12353522 NDST1 N-deacetylase and N-sulfotransferase 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:736720 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 12353522 NDST1 N-deacetylase and N-sulfotransferase 1 gene DOID:630 genetic disease ISO RGD:733822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28211985|PMID:28492532|PMID:9536098 12353522 NDST1 N-deacetylase and N-sulfotransferase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733822 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12353522 NDST1 N-deacetylase and N-sulfotransferase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:733822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25125150|PMID:25741868|PMID:27620904|PMID:27870114|PMID:28492532 12353522 NDST1 N-deacetylase and N-sulfotransferase 1 gene DOID:9008296 Eye Abnormalities ISO RGD:733822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16020517 12353522 NDST1 N-deacetylase and N-sulfotransferase 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16020517 12353522 NDST1 N-deacetylase and N-sulfotransferase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12353544 USP28 ubiquitin specific peptidase 28 gene DOID:10283 prostate cancer ISO RGD:1323075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12353544 USP28 ubiquitin specific peptidase 28 gene DOID:1059 intellectual disability ISO RGD:1323075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12353544 USP28 ubiquitin specific peptidase 28 gene DOID:630 genetic disease ISO RGD:1323075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353544 USP28 ubiquitin specific peptidase 28 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323075 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475|PMID:29662167 12353544 USP28 ubiquitin specific peptidase 28 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1323075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12353587 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0060019 coronin-1A deficiency ISO RGD:736670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12353587 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:736670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12353587 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:736670 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12353587 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:736670 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12353587 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:736670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12353587 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:736670 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12353587 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:12849 autistic disorder ISO RGD:736670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12353587 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:1882 atrial heart septal defect ISO RGD:736670 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12353587 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:5419 schizophrenia ISO RGD:736670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12353587 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:630 genetic disease ISO RGD:736670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353587 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12353587 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:736670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12353587 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:736670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12353597 LHX8 LIM homeobox 8 gene DOID:630 genetic disease ISO RGD:1606630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353609 DPT dermatopontin gene DOID:10003 sensorineural hearing loss ISO RGD:1316210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 12353609 DPT dermatopontin gene DOID:1540 parathyroid carcinoma ISO RGD:1316210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12353609 DPT dermatopontin gene DOID:630 genetic disease ISO RGD:1316210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353609 DPT dermatopontin gene DOID:799 varicose veins ISO RGD:1316210 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17643059 12353609 DPT dermatopontin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12353617 TMEM260 transmembrane protein 260 gene DOID:0060060 non-Hodgkin lymphoma disease_progression ISO RGD:1354503 D RGD:9068941 20230128 RGD DNA:SNP: 3'UTR:rs4901706 (human) PMID:24831772|REF_RGD_ID:155882447 12353617 TMEM260 transmembrane protein 260 gene DOID:0081312 T-cell non-Hodgkin lymphoma disease_progression ISO RGD:1354503 D RGD:9068941 20230128 RGD DNA:SNP: 3'UTR:rs4901706 (human) PMID:24831772|REF_RGD_ID:155882447 12353617 TMEM260 transmembrane protein 260 gene DOID:10534 stomach cancer susceptibility ISO RGD:1354503 D RGD:9068941 20230128 RGD DNA:SNP: 3'UTR:rs4901706 (human) PMID:27602096|REF_RGD_ID:155882453 12353617 TMEM260 transmembrane protein 260 gene DOID:630 genetic disease ISO RGD:1354503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353617 TMEM260 transmembrane protein 260 gene DOID:9005528 Structural Heart Defects and Renal Anomalies Syndrome ISO RGD:1354503 D RGD:7240710 20190315 OMIM 12353617 TMEM260 transmembrane protein 260 gene DOID:9005528 Structural Heart Defects and Renal Anomalies Syndrome ISO RGD:1354503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Structural heart defects and renal anomalies syndrome | ClinVar Annotator: match by term: Type I truncus arteriosus PMID:25741868|PMID:28318500|PMID:28492532|PMID:32860008|PMID:34612517 12353637 RAPGEFL1 Rap guanine nucleotide exchange factor like 1 gene DOID:0090063 familial cold autoinflammatory syndrome 2 ISO RGD:1347798 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 12353637 RAPGEFL1 Rap guanine nucleotide exchange factor like 1 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1347798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 12353637 RAPGEFL1 Rap guanine nucleotide exchange factor like 1 gene DOID:10283 prostate cancer ISO RGD:1347798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12353637 RAPGEFL1 Rap guanine nucleotide exchange factor like 1 gene DOID:630 genetic disease ISO RGD:1347798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353656 SHOX short stature homeobox gene DOID:0060847 Leri-Weill dyschondrosteosis ISO RGD:1349053 D RGD:7240710 20180130 OMIM 12353656 SHOX short stature homeobox gene DOID:0060847 Leri-Weill dyschondrosteosis ISO RGD:1349053 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leri-Weill dyschondrosteosis PMID:10634394|PMID:10749976|PMID:11030412|PMID:11403039|PMID:11735031|PMID:11739418|PMID:11889214|PMID:11889216|PMID:11891678|PMID:12070265|PMID:12116253|PMID:12116254|PMID:12362035|PMID:12424438|PMID:15118270|PMID:15356038|PMID:15931687|PMID:16227037|PMID:17028440|PMID:17047016|PMID:17182655|PMID:17726696|PMID:17935511|PMID:21712857|PMID:22020182|PMID:22791839|PMID:23426818|PMID:23636926|PMID:24186869|PMID:25659810|PMID:25741868|PMID:26467025|PMID:27676402|PMID:27708272|PMID:28973083|PMID:32344414|PMID:34627339|PMID:9140395|PMID:9590292|PMID:9590293 12353656 SHOX short stature homeobox gene DOID:0112120 SHOX-related short stature ISO RGD:1349053 D RGD:7240710 20180130 OMIM 12353656 SHOX short stature homeobox gene DOID:0112120 SHOX-related short stature ISO RGD:1349053 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: SHOX-related short stature PMID:10634394|PMID:10749976|PMID:11403039|PMID:11735031|PMID:11739418|PMID:11889216|PMID:11891678|PMID:12070265|PMID:12362035|PMID:12424438|PMID:15118270|PMID:15931687|PMID:16227037|PMID:17028440|PMID:17047016|PMID:17182655|PMID:17726696|PMID:21262861|PMID:21912078|PMID:22020182|PMID:22791839|PMID:23636926|PMID:25659810|PMID:25741868|PMID:26467025|PMID:27708272|PMID:32344414|PMID:9140395|PMID:9590292 12353656 SHOX short stature homeobox gene DOID:12849 autistic disorder ISO RGD:1349053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12353656 SHOX short stature homeobox gene DOID:5419 schizophrenia ISO RGD:1349053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12353656 SHOX short stature homeobox gene DOID:65 connective tissue disease ISO RGD:1349053 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:12362035|PMID:22020182|PMID:25659810|PMID:25741868|PMID:26467025 12353656 SHOX short stature homeobox gene DOID:9005842 Langer Mesomelic Dysplasia ISO RGD:1349053 D RGD:7240710 20180130 OMIM 12353656 SHOX short stature homeobox gene DOID:9005842 Langer Mesomelic Dysplasia ISO RGD:1349053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Langer mesomelic dysplasia syndrome PMID:11889214|PMID:12116254|PMID:17935511|PMID:21712857|PMID:25741868|PMID:9590292|PMID:9590293 12353663 BMX BMX non-receptor tyrosine kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12353663 BMX BMX non-receptor tyrosine kinase gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1605440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 12353663 BMX BMX non-receptor tyrosine kinase gene DOID:12849 autistic disorder ISO RGD:1605440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12353663 BMX BMX non-receptor tyrosine kinase gene DOID:13636 Fanconi anemia ISO RGD:1605440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 12353663 BMX BMX non-receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1605440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353663 BMX BMX non-receptor tyrosine kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12353700 PANX1 pannexin 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:735204 D RGD:9068941 20200609 RGD PMID:31630543|REF_RGD_ID:14995937 12353700 PANX1 pannexin 1 gene DOID:1059 intellectual disability ISO RGD:1347653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12353700 PANX1 pannexin 1 gene DOID:630 genetic disease ISO RGD:1347653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353700 PANX1 pannexin 1 gene DOID:9004590 Acute Liver Failure ISO RGD:1347653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29246445 12353700 PANX1 pannexin 1 gene DOID:9004707 Massive Hepatic Necrosis ISO RGD:1347653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29246445 12353700 PANX1 pannexin 1 gene DOID:9005028 Oocyte Maturation Defect 7 ISO RGD:1347653 D RGD:7240710 20190911 OMIM 12353700 PANX1 pannexin 1 gene DOID:9005028 Oocyte Maturation Defect 7 ISO RGD:1347653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 7 PMID:25741868|PMID:30918116 12353700 PANX1 pannexin 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29246445 12353715 CFAP298 cilia and flagella associated protein 298 gene DOID:0050545 visceral heterotaxy ISO RGD:1315861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Situs ambiguus 12353715 CFAP298 cilia and flagella associated protein 298 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1315861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12353715 CFAP298 cilia and flagella associated protein 298 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1315861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12353715 CFAP298 cilia and flagella associated protein 298 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1315861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12353715 CFAP298 cilia and flagella associated protein 298 gene DOID:0110627 primary ciliary dyskinesia 26 ISO RGD:1315861 D RGD:7240710 20180130 OMIM 12353715 CFAP298 cilia and flagella associated protein 298 gene DOID:0110627 primary ciliary dyskinesia 26 ISO RGD:1315861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 26 PMID:24094744|PMID:25741868|PMID:28492532 12353715 CFAP298 cilia and flagella associated protein 298 gene DOID:758 situs inversus ISO RGD:1315861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 12353715 CFAP298 cilia and flagella associated protein 298 gene DOID:9005698 ZTTK Syndrome ISO RGD:1315861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 12353726 UBE2H ubiquitin conjugating enzyme E2 H gene DOID:11612 polycystic ovary syndrome ISO RGD:1320678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12353726 UBE2H ubiquitin conjugating enzyme E2 H gene DOID:12849 autistic disorder ISO RGD:1320678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14639049 12353726 UBE2H ubiquitin conjugating enzyme E2 H gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12353726 UBE2H ubiquitin conjugating enzyme E2 H gene DOID:630 genetic disease ISO RGD:1320678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353738 RAB3C RAB3C, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:732895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353738 RAB3C RAB3C, member RAS oncogene family gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12353751 HMGB4 high mobility group box 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12353751 HMGB4 high mobility group box 4 gene DOID:630 genetic disease ISO RGD:1606732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353756 OR6K2 olfactory receptor family 6 subfamily K member 2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1352681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12353756 OR6K2 olfactory receptor family 6 subfamily K member 2 gene DOID:10283 prostate cancer ISO RGD:1352681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12353756 OR6K2 olfactory receptor family 6 subfamily K member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1352681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12353756 OR6K2 olfactory receptor family 6 subfamily K member 2 gene DOID:630 genetic disease ISO RGD:1352681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353756 OR6K2 olfactory receptor family 6 subfamily K member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12353759 TRIM6 tripartite motif containing 6 gene DOID:630 genetic disease ISO RGD:1316640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:68607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:0060652 familial erythrocytosis 1 ISO RGD:68607 D RGD:7240710 20180130 OMIM 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:0060652 familial erythrocytosis 1 ISO RGD:68607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign PMID:15705783|PMID:20843259|PMID:25741868|PMID:27651169|PMID:28484264|PMID:29590070 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:68607 D RGD:9068941 20220728 RGD protein:decreased expression:colorectum (human) PMID:31706103|REF_RGD_ID:153297781 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:0112203 developmental and epileptic encephalopathy 67 ISO RGD:68607 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 67 PMID:20404132|PMID:25741868 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:10763 hypertension ISO RGD:68411 D RGD:9068941 20200609 RGD PMID:25776069|REF_RGD_ID:13442483 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:12306 vitiligo ISO RGD:68607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:2224 essential thrombocythemia ISO RGD:68607 D RGD:7240710 20180130 OMIM 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:2224 essential thrombocythemia ISO RGD:68607 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic thrombocythemia | ClinVar Annotator: match by term: THROMBOCYTOSIS 1 | ClinVar Annotator: match by term: Thrombocythemia 1 PMID:15705783|PMID:20404132|PMID:23812944|PMID:25741868|PMID:27651169|PMID:28484264|PMID:29590070|PMID:31298594 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:2228 thrombocytosis ISO RGD:68607 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:3393 coronary artery disease ISO RGD:68607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:4971 myelofibrosis ISO RGD:68607 D RGD:7240710 20180130 OMIM 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:4971 myelofibrosis ISO RGD:68607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelofibrosis, somatic | ClinVar Annotator: match by term: Primary myelofibrosis PMID:20404132|PMID:25741868 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:5844 myocardial infarction ISO RGD:68607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198610 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:630 genetic disease ISO RGD:68607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:687 hepatoblastoma ISO RGD:68607 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:20404132|PMID:25741868 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:8432 polycythemia ISO RGD:68607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC PMID:15705783|PMID:20843259|PMID:25741868|PMID:27651169|PMID:28484264|PMID:29590070 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:8552 chronic myeloid leukemia ISO RGD:68608 D RGD:9068941 20220825 MouseDO OMIM:608232 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:9001542 Albuminuria ISO RGD:68411 D RGD:9068941 20200609 RGD PMID:25776069|REF_RGD_ID:13442483 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:9005372 Inflammation ISO RGD:68607 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21496118 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:9006561 Familial Myelofibrosis ISO RGD:68607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial myelofibrosis PMID:25741868 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:68607 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:23908464|PMID:25741868|PMID:26457647|PMID:31102422|PMID:31173385 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:9007096 Stroke ISO RGD:68607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:68411 D RGD:9068941 20200609 RGD PMID:25628389|REF_RGD_ID:12904914 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:68607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838195 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:9256 colorectal cancer susceptibility ISO RGD:68607 D RGD:9068941 20220728 RGD DNA:missense mutation:CDS:p.W263R (rs3184504) (human) PMID:26553438|REF_RGD_ID:11041896 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:9538 multiple myeloma ISO RGD:68607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:68607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30224649 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:68607 D RGD:9068941 20220728 RGD DNA:SNP: : (rs3184504) (human) PMID:21873553|REF_RGD_ID:6484692 12353790 SH2B3 SH2B adaptor protein 3 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:68607 D RGD:9068941 20220728 RGD DNA:missense mutation:exon: (rs3184504) (human) PMID:21829393|REF_RGD_ID:153297780 12353804 ESYT2 extended synaptotagmin 2 gene DOID:12849 autistic disorder ISO RGD:1606520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12353804 ESYT2 extended synaptotagmin 2 gene DOID:5419 schizophrenia ISO RGD:1606520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12353804 ESYT2 extended synaptotagmin 2 gene DOID:630 genetic disease ISO RGD:1606520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353833 ZNF396 zinc finger protein 396 gene DOID:1059 intellectual disability ISO RGD:1347461 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12353833 ZNF396 zinc finger protein 396 gene DOID:630 genetic disease ISO RGD:1347461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353841 RRAGC Ras related GTP binding C gene DOID:0050873 follicular lymphoma ISO RGD:1323384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26691987 12353841 RRAGC Ras related GTP binding C gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1323384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12353841 RRAGC Ras related GTP binding C gene DOID:630 genetic disease ISO RGD:1323384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12353955 LARS2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:0050563 nonsyndromic deafness ISO RGD:1318191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:23541342|PMID:28492532|PMID:30311386|PMID:30737337 12353955 LARS2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:0050857 Perrault syndrome ISO RGD:1318191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:23541342|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26537577|PMID:26970254|PMID:27650058|PMID:28492532|PMID:28832386|PMID:29205794|PMID:30311386|PMID:30737337|PMID:32747562|PMID:32767731|PMID:34997062 12353955 LARS2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:5426 primary ovarian insufficiency ISO RGD:1318191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12353955 LARS2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1318191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23541342|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30831263 12353955 LARS2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:699 mitochondrial myopathy ISO RGD:1318191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial Myopathies PMID:24033266|PMID:25741868|PMID:26467025|PMID:28430790|PMID:28492532|PMID:32442335 12353955 LARS2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:9002027 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA ISO RGD:1318191 D RGD:7240710 20190315 OMIM 12353955 LARS2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:9002027 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA ISO RGD:1318191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia PMID:23541342|PMID:24033266|PMID:25741868|PMID:26537577|PMID:26970254|PMID:28000701|PMID:28492532|PMID:28832386|PMID:30737337|PMID:32442335|PMID:32747562 12353955 LARS2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1318191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12353955 LARS2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:9004726 Perrault Syndrome 4 ISO RGD:1318191 D RGD:7240710 20180130 OMIM 12353955 LARS2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:9004726 Perrault Syndrome 4 ISO RGD:1318191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome 4 PMID:23541342|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26537577|PMID:26657938|PMID:26970254|PMID:28000701|PMID:28492532|PMID:28708303|PMID:28832386|PMID:29205794|PMID:30311386|PMID:30737337|PMID:32399598|PMID:32442335|PMID:32747562 12353985 CAB39 calcium binding protein 39 gene DOID:0060476 Perlman syndrome ISO RGD:1314979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12353985 CAB39 calcium binding protein 39 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1314979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12353985 CAB39 calcium binding protein 39 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1314979 D RGD:9068941 20200609 RGD PMID:28197410|REF_RGD_ID:14398834 12353985 CAB39 calcium binding protein 39 gene DOID:224 transient cerebral ischemia ISO RGD:1306390 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:27798271|REF_RGD_ID:14398833 12353985 CAB39 calcium binding protein 39 gene DOID:684 hepatocellular carcinoma ISO RGD:1314979 D RGD:9068941 20200609 RGD PMID:28605041|REF_RGD_ID:14398832 12353985 CAB39 calcium binding protein 39 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1314979 D RGD:9068941 20200609 RGD PMID:28605041|REF_RGD_ID:14398832 12353985 CAB39 calcium binding protein 39 gene DOID:7998 hyperthyroidism ISO RGD:1306390 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:muscle: PMID:18669938|REF_RGD_ID:10059691 12353985 CAB39 calcium binding protein 39 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1314979 D RGD:9068941 20200609 RGD associated with pancreatic cancer;RNA:increased expression:pancreas PMID:28197410|REF_RGD_ID:14398834 12353985 CAB39 calcium binding protein 39 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1314979 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma; PMID:28605041|REF_RGD_ID:14398832 12353997 RASSF8 Ras association domain family member 8 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1318811 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 12353997 RASSF8 Ras association domain family member 8 gene DOID:5409 lung small cell carcinoma ISO RGD:1318811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 12353997 RASSF8 Ras association domain family member 8 gene DOID:630 genetic disease ISO RGD:1318811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354009 SDR16C5 short chain dehydrogenase/reductase family 16C member 5 gene DOID:630 genetic disease ISO RGD:1604728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354020 CPNE2 copine 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1319355 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12354020 CPNE2 copine 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1319355 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12354020 CPNE2 copine 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12354020 CPNE2 copine 2 gene DOID:630 genetic disease ISO RGD:1319355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354039 MECR mitochondrial trans-2-enoyl-CoA reductase gene DOID:5723 optic atrophy ISO RGD:733084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:17576681|PMID:25741868|PMID:27817865|PMID:28492532|PMID:31137067|PMID:32313153|PMID:32445240|PMID:9536098 12354039 MECR mitochondrial trans-2-enoyl-CoA reductase gene DOID:630 genetic disease ISO RGD:733084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12354039 MECR mitochondrial trans-2-enoyl-CoA reductase gene DOID:9003458 DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES ISO RGD:733084 D RGD:7240710 20190315 OMIM 12354039 MECR mitochondrial trans-2-enoyl-CoA reductase gene DOID:9003458 DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES ISO RGD:733084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities PMID:17576681|PMID:25741868|PMID:27817865|PMID:28492532|PMID:31137067|PMID:32313153|PMID:32445240|PMID:33401012|PMID:9536098 12354057 MYO15A myosin XVA gene DOID:0050563 nonsyndromic deafness ISO RGD:1343693 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:17546645|PMID:20642360|PMID:23208854|PMID:24033266|PMID:24123792|PMID:24875298|PMID:25741868|PMID:26969326|PMID:27068579|PMID:27734841|PMID:27870113|PMID:28000701|PMID:28492532|PMID:30311386|PMID:31980526|PMID:7704031|PMID:9603736 12354057 MYO15A myosin XVA gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1343693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:17546645|PMID:27573290|PMID:28492532|PMID:30303587 12354057 MYO15A myosin XVA gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1343693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 12354057 MYO15A myosin XVA gene DOID:0050777 Joubert syndrome ISO RGD:1343693 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12354057 MYO15A myosin XVA gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1343693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12354057 MYO15A myosin XVA gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1343693 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12354057 MYO15A myosin XVA gene DOID:0110488 autosomal recessive nonsyndromic deafness 3 ISO RGD:1343693 D RGD:7240710 20180130 OMIM 12354057 MYO15A myosin XVA gene DOID:0110488 autosomal recessive nonsyndromic deafness 3 ISO RGD:1343693 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 3 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3 PMID:10552926|PMID:11735029|PMID:16199547|PMID:17546645|PMID:17576681|PMID:17853461|PMID:19274735|PMID:20642360|PMID:21917145|PMID:22245518|PMID:22736430|PMID:22903915|PMID:23208854|PMID:23767834|PMID:23804846|PMID:23865914|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24123792|PMID:24130743|PMID:24206587|PMID:24498627|PMID:24853665|PMID:24875298|PMID:25262649|PMID:25373420|PMID:2574186|PMID:25741868|PMID:25792667|PMID:26075876|PMID:26226137|PMID:26242193|PMID:26302205|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26561413|PMID:26633542|PMID:26810297|PMID:26915297|PMID:26969326|PMID:27068579|PMID:27344577|PMID:27375115|PMID:27436265|PMID:27734841|PMID:27870113|PMID:28000701|PMID:28492532|PMID:29196752|PMID:29907799|PMID:29986705|PMID:30096381|PMID:30139988|PMID:30303587|PMID:30311386|PMID:30622556|PMID:30828794|PMID:30953472|PMID:31053783|PMID:31130284|PMID:31581539|PMID:31827275|PMID:31980526|PMID:32623615|PMID:32747562|PMID:32860223|PMID:33187236|PMID:33398081|PMID:33524517|PMID:34599368|PMID:35802133|PMID:36633841|PMID:7616538|PMID:7704031|PMID:9536098|PMID:9603736 12354057 MYO15A myosin XVA gene DOID:10003 sensorineural hearing loss ISO RGD:1343693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment PMID:17546645|PMID:17576681|PMID:24033266|PMID:24875298|PMID:25741868|PMID:26969326|PMID:28492532|PMID:9536098 12354057 MYO15A myosin XVA gene DOID:10983 Alport syndrome ISO RGD:1343693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alport syndrome PMID:28492532|PMID:30311386 12354057 MYO15A myosin XVA gene DOID:12849 autistic disorder ISO RGD:1343693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12354057 MYO15A myosin XVA gene DOID:1432 blindness induces ISO RGD:1561873 D RGD:9068941 20210910 RGD DNA:missense mutation:cds:exon 56 T>C, p.Leu3157Pro (rat) PMID:21479269|REF_RGD_ID:150429616 12354057 MYO15A myosin XVA gene DOID:1432 blindness induces ISO XCO:0000181 D RGD:9068941 20210917 RGD compared to LEW/Ztm PMID:21479269|REF_RGD_ID:150429616 12354057 MYO15A myosin XVA gene DOID:1826 epilepsy ISO RGD:1343693 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizure PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 12354057 MYO15A myosin XVA gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1343693 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Agenesis of hemidiaphragm PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 12354057 MYO15A myosin XVA gene DOID:630 genetic disease ISO RGD:1343693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15654330|PMID:17546645|PMID:17851452|PMID:21917145|PMID:23767834|PMID:24033266|PMID:2574186|PMID:25741868|PMID:25792667|PMID:26242193|PMID:26467025|PMID:27375115|PMID:27870113|PMID:28492532|PMID:30311386|PMID:30622556|PMID:31827275|PMID:32747562|PMID:7616538|PMID:7704031 12354057 MYO15A myosin XVA gene DOID:674 cleft palate ISO RGD:1343693 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 12354057 MYO15A myosin XVA gene DOID:9004538 Hearing Loss ISO RGD:1343693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:17546645|PMID:21917145|PMID:23208854|PMID:23767834|PMID:24033266|PMID:24123792|PMID:24875298|PMID:2574186|PMID:25741868|PMID:25792667|PMID:26242193|PMID:26969326|PMID:27375115|PMID:27870113|PMID:28000701|PMID:28492532|PMID:30311386|PMID:30622556|PMID:31827275|PMID:31980526|PMID:32747562|PMID:33524517|PMID:7616538|PMID:7704031 12354057 MYO15A myosin XVA gene DOID:9007233 Deafness, with Smith-Magenis Syndrome ISO RGD:1343693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, with smith-magenis syndrome PMID:11735029|PMID:17546645|PMID:19274735|PMID:24033266|PMID:28492532 12354057 MYO15A myosin XVA gene DOID:9008086 Developmental Disabilities ISO RGD:1343693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 12354125 MCM7 minichromosome maintenance complex component 7 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1347363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:25741868|PMID:33654309 12354125 MCM7 minichromosome maintenance complex component 7 gene DOID:11782 astigmatism ISO RGD:1347363 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Astigmatism PMID:25741868|PMID:33654309 12354125 MCM7 minichromosome maintenance complex component 7 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1347363 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreatic duct PMID:15548371|REF_RGD_ID:2317697 12354125 MCM7 minichromosome maintenance complex component 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12354125 MCM7 minichromosome maintenance complex component 7 gene DOID:630 genetic disease ISO RGD:1347363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354125 MCM7 minichromosome maintenance complex component 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1303018 D RGD:9068941 20200609 RGD associated with hepatitis B;miRNA:increased expression:liver (human) PMID:27298561|REF_RGD_ID:15042853 12354125 MCM7 minichromosome maintenance complex component 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1347363 D RGD:9068941 20200609 RGD associated with hepatitis B;miRNA:increased expression:liver (human) PMID:27298561|REF_RGD_ID:15042853 12354125 MCM7 minichromosome maintenance complex component 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1557018 D RGD:9068941 20200609 RGD associated with hepatitis B;miRNA:increased expression:liver (human) PMID:27298561|REF_RGD_ID:15042853 12354125 MCM7 minichromosome maintenance complex component 7 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1303018 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:SNP:promoter: (rs999885) (human) PMID:24416400|REF_RGD_ID:15042885 12354125 MCM7 minichromosome maintenance complex component 7 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1347363 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:SNP:promoter: (rs999885) (human) PMID:24416400|REF_RGD_ID:15042885 12354125 MCM7 minichromosome maintenance complex component 7 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1557018 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:SNP:promoter: (rs999885) (human) PMID:24416400|REF_RGD_ID:15042885 12354125 MCM7 minichromosome maintenance complex component 7 gene DOID:7998 hyperthyroidism ISO RGD:1303018 D RGD:9068941 20200609 RGD PMID:17394799|REF_RGD_ID:2317698 12354154 ARID4A AT-rich interaction domain 4A gene DOID:0110992 Joubert syndrome 23 ISO RGD:1316636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 23 PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532 12354154 ARID4A AT-rich interaction domain 4A gene DOID:630 genetic disease ISO RGD:1316636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354154 ARID4A AT-rich interaction domain 4A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12354154 ARID4A AT-rich interaction domain 4A gene DOID:9119 acute myeloid leukemia ISO RGD:1316637 D RGD:9068941 20220825 MouseDO OMIM:601626 12354154 ARID4A AT-rich interaction domain 4A gene DOID:9538 multiple myeloma ISO RGD:1316636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12354187 GRM4 glutamate metabotropic receptor 4 gene DOID:0050553 JMP syndrome ISO RGD:731311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12354187 GRM4 glutamate metabotropic receptor 4 gene DOID:3328 temporal lobe epilepsy ISO RGD:731311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15694259 12354187 GRM4 glutamate metabotropic receptor 4 gene DOID:3347 osteosarcoma ISO RGD:731311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23727862 12354187 GRM4 glutamate metabotropic receptor 4 gene DOID:630 genetic disease ISO RGD:731311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354187 GRM4 glutamate metabotropic receptor 4 gene DOID:9002955 Nerve Degeneration ISO RGD:731311 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17446080 12354201 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1606480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868|PMID:28492532|PMID:30193310 12354201 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1606480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia PMID:25741868 12354201 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0050777 Joubert syndrome ISO RGD:1606480 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16682973|PMID:16909394|PMID:17576681|PMID:19764032|PMID:20683928|PMID:21786365|PMID:23954617|PMID:25741868|PMID:27821535|PMID:28492532|PMID:29588463|PMID:30193310|PMID:34196655|PMID:9536098 12354201 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0050778 Meckel syndrome ISO RGD:1606480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868 12354201 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0070118 Meckel syndrome 4 ISO RGD:1606480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 4 PMID:28492532 12354201 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0110136 Bardet-Biedl syndrome 14 ISO RGD:1606480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 PMID:28492532 12354201 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0110291 Leber congenital amaurosis 10 ISO RGD:1606480 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 10 PMID:16682973|PMID:16909394|PMID:20683928|PMID:25741868|PMID:28492532|PMID:29588463 12354201 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0111000 Joubert syndrome 5 ISO RGD:1606480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 5 PMID:16682973|PMID:16909394|PMID:20683928|PMID:25741868|PMID:28492532|PMID:29588463 12354201 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:1059 intellectual disability ISO RGD:1606480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12354201 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1606480 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:16682973|PMID:16909394|PMID:25741868|PMID:28492532|PMID:29588463|PMID:34196655 12354201 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868 12354201 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:630 genetic disease ISO RGD:1606480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12354201 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:8501 fundus dystrophy ISO RGD:1606480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 12354201 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1606480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16682973|PMID:16909394|PMID:25741868|PMID:28492532|PMID:29588463 12354201 RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:9008709 Senior-Loken Syndrome 6 ISO RGD:1606480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 6 PMID:28492532 12354214 GNB1L G protein subunit beta 1 like gene DOID:0060041 autism spectrum disorder ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12354214 GNB1L G protein subunit beta 1 like gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1322292 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12354214 GNB1L G protein subunit beta 1 like gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1322292 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12354214 GNB1L G protein subunit beta 1 like gene DOID:0111996 immunodeficiency 51 ISO RGD:1322292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12354214 GNB1L G protein subunit beta 1 like gene DOID:1059 intellectual disability ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12354214 GNB1L G protein subunit beta 1 like gene DOID:11198 DiGeorge syndrome ISO RGD:1322292 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12354214 GNB1L G protein subunit beta 1 like gene DOID:11372 megacolon ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12354214 GNB1L G protein subunit beta 1 like gene DOID:12583 velocardiofacial syndrome ISO RGD:1322292 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12354214 GNB1L G protein subunit beta 1 like gene DOID:12849 autistic disorder ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12354214 GNB1L G protein subunit beta 1 like gene DOID:12930 dilated cardiomyopathy ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 12354214 GNB1L G protein subunit beta 1 like gene DOID:1826 epilepsy ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12354214 GNB1L G protein subunit beta 1 like gene DOID:2213 hemorrhagic disease ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 12354214 GNB1L G protein subunit beta 1 like gene DOID:5419 schizophrenia ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12354214 GNB1L G protein subunit beta 1 like gene DOID:612 primary immunodeficiency disease ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12354214 GNB1L G protein subunit beta 1 like gene DOID:630 genetic disease ISO RGD:1322292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354214 GNB1L G protein subunit beta 1 like gene DOID:9003871 Venous Thrombosis ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 12354214 GNB1L G protein subunit beta 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12354214 GNB1L G protein subunit beta 1 like gene DOID:9007661 Dwarfism ISO RGD:1322292 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12354214 GNB1L G protein subunit beta 1 like gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1322292 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735910 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:0080745 polymyositis ISO RGD:735910 D RGD:9068941 20200609 RGD protein:expression:serum PMID:22394569|REF_RGD_ID:9491763 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:0080855 Parkinsonism ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:19368990|REF_RGD_ID:4891964 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735910 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:10223 dermatomyositis ISO RGD:735910 D RGD:9068941 20200609 RGD protein:expression:serum PMID:22394569|REF_RGD_ID:9491763 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:10457 Legionnaires' disease ISO RGD:731691 D RGD:9068941 20200609 RGD PMID:16113250|REF_RGD_ID:4891897 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:10459 common cold ISO RGD:735910 D RGD:9068941 20200609 RGD PMID:20696083|REF_RGD_ID:4140458 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:10762 portal hypertension ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:21347560|REF_RGD_ID:9491791 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:1205 allergic disease ISO RGD:735910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:13141 uveitis ISO RGD:620458 D RGD:9068941 20200609 RGD associated with Endotoxemia;mRNA, protein:increased expression:retina PMID:19648777|REF_RGD_ID:4891945 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:1679 cystitis ISO RGD:620458 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder urothelium PMID:16651033|REF_RGD_ID:4891972 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:1824 status epilepticus treatment ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:21481949|REF_RGD_ID:9491789 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:735910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:224 transient cerebral ischemia ISO RGD:620458 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:24447880|REF_RGD_ID:9491776 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:2527 nephrosis ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:19590241|REF_RGD_ID:4891946 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:2841 asthma ISO RGD:735910 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:14657873|REF_RGD_ID:4891906 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:2913 acute pancreatitis treatment ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:22213034|REF_RGD_ID:9491790 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:2921 glomerulonephritis ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus, urine PMID:14605272|REF_RGD_ID:4891995 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:326 ischemia ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:18006432|REF_RGD_ID:4892022 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:3310 atopic dermatitis ISO RGD:735910 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15131578|REF_RGD_ID:9491761 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:418 systemic scleroderma ISO RGD:735910 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15608300|REF_RGD_ID:4891898 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:4483 rhinitis ISO RGD:735910 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:14657873|REF_RGD_ID:4891906 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus PMID:19590241|REF_RGD_ID:4891946 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:5154 borna disease ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:12053272|REF_RGD_ID:4891998 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:552 pneumonia ISO RGD:735910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:630 genetic disease ISO RGD:735910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:6432 pulmonary hypertension ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:18630689|REF_RGD_ID:4891889 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:6432 pulmonary hypertension ISO RGD:735910 D RGD:9068941 20200609 RGD associated with Heart Defects, Congenital PMID:20869263|REF_RGD_ID:4891883 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:6432 pulmonary hypertension ISO RGD:735910 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19948918|REF_RGD_ID:4891887 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:649 prion disease ISO RGD:620458 D RGD:9068941 20200609 RGD protein:increased expression:astrocyte PMID:11870871|REF_RGD_ID:4892001 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:7148 rheumatoid arthritis ISO RGD:735910 D RGD:9068941 20200609 RGD PMID:11465708|REF_RGD_ID:4892002 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:820 myocarditis ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA:increased expression:cardiac muscle cell PMID:16018993|REF_RGD_ID:4891990 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:850 lung disease ISO RGD:620458 D RGD:9068941 20200609 RGD Acute Lung Injury associated with Endotoxemia;mRNA:increased expression:lung PMID:17302066|REF_RGD_ID:4891892 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:8515 Cor pulmonale ISO RGD:735910 D RGD:9068941 20200609 RGD PMID:20669672|REF_RGD_ID:4143386 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:8544 chronic fatigue syndrome ISO RGD:735910 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:26615570|REF_RGD_ID:11538286 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:900 hepatopulmonary syndrome ISO RGD:620458 D RGD:9068941 20200609 RGD protein:increased expression:lung, plasma PMID:22659346|REF_RGD_ID:9491778 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9000598 Cranial Nerve Injuries ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:15153618|REF_RGD_ID:4891994 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9002211 Hyperalgesia ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:19249394|REF_RGD_ID:2304251 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9002211 Hyperalgesia treatment ISO RGD:620458 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental PMID:22647647|REF_RGD_ID:9491779 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9002457 Experimental Arthritis ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:11465708|REF_RGD_ID:4892002 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9002699 Periapical Diseases ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:23829599|REF_RGD_ID:9491793 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:16053521|REF_RGD_ID:4891973 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9004009 Reperfusion Injury ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:19563789|REF_RGD_ID:4891956 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9004538 Hearing Loss ISO RGD:731691 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:cochlea PMID:24781382|REF_RGD_ID:9491762 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9005070 Microscopic Polyangiitis severity ISO RGD:735910 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19327232|REF_RGD_ID:9491765 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:15153757|REF_RGD_ID:4891992 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388520 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:iris, ciliary body, aqueous humor PMID:16030495|REF_RGD_ID:9479740 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9005665 Chronic Mesangial Proliferative Glomerulonephritis ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:12028445|REF_RGD_ID:9491783 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9005930 Endotoxemia ISO RGD:620458 D RGD:9068941 20200609 RGD protein:increased expression:atrium endocardium PMID:19282612|REF_RGD_ID:4891965 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:21224760|REF_RGD_ID:4891907 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:18448252|REF_RGD_ID:4891968 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:735910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9007244 Paramyxoviridae Infections ISO RGD:731691 D RGD:9068941 20200609 RGD PMID:20053825|REF_RGD_ID:4891886 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9477 pulmonary embolism treatment ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:23578461|REF_RGD_ID:9491777 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9675 pulmonary emphysema ISO RGD:731691 D RGD:9068941 20200609 RGD PMID:18772344|REF_RGD_ID:4891888 12354236 CX3CL1 C-X3-C motif chemokine ligand 1 gene DOID:9810 polyarteritis nodosa ISO RGD:735910 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:23470165|REF_RGD_ID:9068463 12354243 CCDC39 coiled-coil domain containing 39 gene DOID:0050144 Kartagener syndrome ISO RGD:1332183 D RGD:9068941 20220825 MouseDO 12354243 CCDC39 coiled-coil domain containing 39 gene DOID:0050545 visceral heterotaxy ISO RGD:1605540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Situs ambiguus PMID:28492532 12354243 CCDC39 coiled-coil domain containing 39 gene DOID:0060041 autism spectrum disorder ISO RGD:1605540 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12354243 CCDC39 coiled-coil domain containing 39 gene DOID:0110000 3-methylglutaconic aciduria type 5 ISO RGD:1605540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 PMID:16055927|PMID:27928778|PMID:28492532 12354243 CCDC39 coiled-coil domain containing 39 gene DOID:0110598 primary ciliary dyskinesia 14 IAGP D RGD:12801476 20220629 OMIA Ciliary dyskinesia, primary, CCDC39-related PMID:11110460|PMID:21131972|PMID:24773602 12354243 CCDC39 coiled-coil domain containing 39 gene DOID:0110598 primary ciliary dyskinesia 14 ISO RGD:1605540 D RGD:7240710 20180130 OMIM 12354243 CCDC39 coiled-coil domain containing 39 gene DOID:0110598 primary ciliary dyskinesia 14 ISO RGD:1605540 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 14 PMID:16199547|PMID:17576681|PMID:21131972|PMID:22499950|PMID:22693285|PMID:22693295|PMID:23255504|PMID:23891469|PMID:24033266|PMID:24498942|PMID:25118008|PMID:25186273|PMID:25741868|PMID:27637300|PMID:28492532|PMID:29748307|PMID:30067075|PMID:31213628|PMID:31650533|PMID:31772028|PMID:31980526|PMID:34768622|PMID:9536098 12354243 CCDC39 coiled-coil domain containing 39 gene DOID:0111546 Currarino syndrome ISO RGD:1605540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12354243 CCDC39 coiled-coil domain containing 39 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1605540 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 12354243 CCDC39 coiled-coil domain containing 39 gene DOID:10908 hydrocephalus ISO RGD:1306277 D RGD:9068941 20211112 RGD PMID:31771992|REF_RGD_ID:150521527 12354243 CCDC39 coiled-coil domain containing 39 gene DOID:10908 hydrocephalus ISO RGD:1332183 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 12354243 CCDC39 coiled-coil domain containing 39 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1605540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:21131972|PMID:23255504|PMID:24498942|PMID:25741868|PMID:28492532|PMID:30067075|PMID:31980526 12354243 CCDC39 coiled-coil domain containing 39 gene DOID:5223 infertility ISO RGD:1605540 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Infertility PMID:16199547|PMID:21131972|PMID:22693295|PMID:23255504|PMID:25741868|PMID:28492532 12354243 CCDC39 coiled-coil domain containing 39 gene DOID:630 genetic disease ISO RGD:1605540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12354243 CCDC39 coiled-coil domain containing 39 gene DOID:758 situs inversus ISO RGD:1605540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:28492532 12354243 CCDC39 coiled-coil domain containing 39 gene DOID:9004821 Fibrous Sheath Dysplasia ISO RGD:1605540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous Sheath Dysplasia 12354243 CCDC39 coiled-coil domain containing 39 gene DOID:9009131 Ventriculomegaly ISO RGD:1306277 D RGD:9068941 20211112 RGD PMID:31771992|REF_RGD_ID:150521527 12354243 CCDC39 coiled-coil domain containing 39 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:21131972|PMID:22406018|PMID:22499950|PMID:22693285|PMID:22693295|PMID:23255504|PMID:23891469|PMID:24033266|PMID:24498942|PMID:25118008|PMID:25186273|PMID:25640679|PMID:25741868|PMID:27637300|PMID:28230599|PMID:28492532|PMID:29748307|PMID:30067075|PMID:31213628|PMID:31650533|PMID:31772028|PMID:31980526|PMID:33005176|PMID:34768622|PMID:9536098 12354267 DAB2IP DAB2 interacting protein gene DOID:10126 keratoconus ISO RGD:732352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 12354267 DAB2IP DAB2 interacting protein gene DOID:10534 stomach cancer severity ISO RGD:732352 D RGD:9068941 20220311 RGD mRNA,protein:decreased expression:stomach (human) PMID:31713929|REF_RGD_ID:151665151 12354267 DAB2IP DAB2 interacting protein gene DOID:10534 stomach cancer susceptibility ISO RGD:732352 D RGD:9068941 20220311 RGD DNA:SNPs,haplotype:intron: (rs2243421) (human) PMID:23246699|REF_RGD_ID:151665146 12354267 DAB2IP DAB2 interacting protein gene DOID:1324 lung cancer sexual_dimorphism ISO RGD:732352 D RGD:9068941 20220317 RGD DNA:SNP:intron 1:97906C>A (rs1571801) (human) PMID:22046421|REF_RGD_ID:151665197 12354267 DAB2IP DAB2 interacting protein gene DOID:341 peripheral vascular disease ISO RGD:732352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20622881 12354267 DAB2IP DAB2 interacting protein gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:732352 D RGD:9068941 20220317 RGD protein:decreased expression:esophagus (human) PMID:30464518|REF_RGD_ID:151665168 12354267 DAB2IP DAB2 interacting protein gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732352 D RGD:9068941 20220317 RGD protein:decreased expression:lung (human) PMID:31849482|REF_RGD_ID:151665206 12354267 DAB2IP DAB2 interacting protein gene DOID:5844 myocardial infarction ISO RGD:732352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20622881 12354267 DAB2IP DAB2 interacting protein gene DOID:630 genetic disease ISO RGD:732352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354267 DAB2IP DAB2 interacting protein gene DOID:684 hepatocellular carcinoma ISO RGD:732352 D RGD:9068941 20220311 RGD mRNA:decreased expression:liver (human) PMID:31176165|REF_RGD_ID:151665110 12354267 DAB2IP DAB2 interacting protein gene DOID:684 hepatocellular carcinoma severity ISO RGD:732352 D RGD:9068941 20220311 RGD protein:decreased expression:liver (human) PMID:22168621|REF_RGD_ID:151665148 12354267 DAB2IP DAB2 interacting protein gene DOID:7693 abdominal aortic aneurysm ISO RGD:732352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20622881 12354267 DAB2IP DAB2 interacting protein gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:732352 D RGD:9068941 20220317 RGD associated with colorectal cancer;protein:decreased expression:colorectum (human) PMID:26336990|REF_RGD_ID:11531913 12354267 DAB2IP DAB2 interacting protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:732352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18073375 12354267 DAB2IP DAB2 interacting protein gene DOID:9005172 Lung Neoplasms ISO RGD:732352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22046421 12354267 DAB2IP DAB2 interacting protein gene DOID:9256 colorectal cancer disease_progression ISO RGD:1331914 D RGD:9068941 20220317 RGD PMID:26564738|REF_RGD_ID:11556182 12354267 DAB2IP DAB2 interacting protein gene DOID:9256 colorectal cancer disease_progression ISO RGD:732352 D RGD:9068941 20220317 RGD protein:decreased expression:colorectum (human) PMID:26564738|PMID:31081086|REF_RGD_ID:11556182|REF_RGD_ID:151665164 12354267 DAB2IP DAB2 interacting protein gene DOID:9256 colorectal cancer treatment ISO RGD:732352 D RGD:9068941 20220317 RGD human cells in mouse model PMID:30974224|REF_RGD_ID:151665166 12354267 DAB2IP DAB2 interacting protein gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:732352 D RGD:9068941 20220311 RGD mRNA,protein:decreased expression:epithelium of nasopharynx (human) PMID:28586035|REF_RGD_ID:151665144 12354267 DAB2IP DAB2 interacting protein gene DOID:9477 pulmonary embolism ISO RGD:732352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20622881 12354313 MYL6B myosin light chain 6B gene DOID:630 genetic disease ISO RGD:1606964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354313 MYL6B myosin light chain 6B gene DOID:9000058 Keloid ISO RGD:1606964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12354339 TRIM60 tripartite motif containing 60 gene DOID:630 genetic disease ISO RGD:1350779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354340 OCSTAMP osteoclast stimulatory transmembrane protein gene DOID:2234 focal epilepsy ISO RGD:1352743 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12354340 OCSTAMP osteoclast stimulatory transmembrane protein gene DOID:630 genetic disease ISO RGD:1352743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354347 VASN vasorin gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12354347 VASN vasorin gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1605593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 12354347 VASN vasorin gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1605593 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 12354347 VASN vasorin gene DOID:1682 congenital heart disease ISO RGD:1605593 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Isolated Nonsyndromic Congenital Heart Disease PMID:25741868 12354347 VASN vasorin gene DOID:1826 epilepsy ISO RGD:1605593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12354347 VASN vasorin gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605593 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12354347 VASN vasorin gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1605593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12354347 VASN vasorin gene DOID:630 genetic disease ISO RGD:1605593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354347 VASN vasorin gene DOID:684 hepatocellular carcinoma ISO RGD:1605593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25826090 12354353 SHLD1 shieldin complex subunit 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1606148 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12354353 SHLD1 shieldin complex subunit 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1606148 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12354424 FBXW8 F-box and WD repeat domain containing 8 gene DOID:11054 urinary bladder cancer ISO RGD:1314415 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 12354424 FBXW8 F-box and WD repeat domain containing 8 gene DOID:630 genetic disease ISO RGD:1314415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354451 MLANA melan-A gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1315192 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12354451 MLANA melan-A gene DOID:1790 malignant mesothelioma ISO RGD:1315192 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 12354451 MLANA melan-A gene DOID:1909 melanoma ISO RGD:1315192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26640592 12354451 MLANA melan-A gene DOID:2773 contact dermatitis ISO RGD:1315192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12354451 MLANA melan-A gene DOID:630 genetic disease ISO RGD:1315192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354451 MLANA melan-A gene DOID:9001834 Peritoneal Neoplasms ISO RGD:1315192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 12354473 ADAM9 ADAM metallopeptidase domain 9 gene DOID:0050572 cone-rod dystrophy ISO RGD:1321127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:19409519|PMID:25741868|PMID:28492532 12354473 ADAM9 ADAM metallopeptidase domain 9 gene DOID:0080600 COVID-19 ISO RGD:1321127 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12354473 ADAM9 ADAM metallopeptidase domain 9 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1321127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 12354473 ADAM9 ADAM metallopeptidase domain 9 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1321127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 12354473 ADAM9 ADAM metallopeptidase domain 9 gene DOID:0111013 cone-rod dystrophy 3 IAGP D RGD:12801476 20210603 OMIA Cone-rod dystrophy 3 PMID:20806078|PMID:20691256|PMID:22065099 12354473 ADAM9 ADAM metallopeptidase domain 9 gene DOID:0111020 cone-rod dystrophy 9 ISO RGD:1321127 D RGD:7240710 20180130 OMIM 12354473 ADAM9 ADAM metallopeptidase domain 9 gene DOID:0111020 cone-rod dystrophy 9 ISO RGD:1321127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 9 PMID:11581183|PMID:17576681|PMID:19409519|PMID:25091951|PMID:25741868|PMID:28492532|PMID:9536098 12354473 ADAM9 ADAM metallopeptidase domain 9 gene DOID:10584 retinitis pigmentosa ISO RGD:1321127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:26261414|PMID:28492532|PMID:31456290 12354473 ADAM9 ADAM metallopeptidase domain 9 gene DOID:10652 Alzheimer's disease ISO RGD:621473 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:24792732|REF_RGD_ID:13703037 12354473 ADAM9 ADAM metallopeptidase domain 9 gene DOID:1793 pancreatic cancer ISO RGD:1321127 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas, epithelial cell PMID:17465204|REF_RGD_ID:2325247 12354473 ADAM9 ADAM metallopeptidase domain 9 gene DOID:1824 status epilepticus ISO RGD:621473 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus PMID:15950787|REF_RGD_ID:1559151 12354473 ADAM9 ADAM metallopeptidase domain 9 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1321127 D RGD:9068941 20200609 RGD protein:altered localization:cytoplasm PMID:14997207|REF_RGD_ID:2325249 12354473 ADAM9 ADAM metallopeptidase domain 9 gene DOID:607 paraplegia ISO RGD:1321127 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12354473 ADAM9 ADAM metallopeptidase domain 9 gene DOID:630 genetic disease ISO RGD:1321127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12354473 ADAM9 ADAM metallopeptidase domain 9 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1321127 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19473694|REF_RGD_ID:2325246 12354473 ADAM9 ADAM metallopeptidase domain 9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321127 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17018608 12354473 ADAM9 ADAM metallopeptidase domain 9 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1321127 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19473694|REF_RGD_ID:2325246 12354505 PCID2 PCI domain containing 2 gene DOID:2213 hemorrhagic disease ISO RGD:1601857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 12354505 PCID2 PCI domain containing 2 gene DOID:2222 factor X deficiency ISO RGD:1601857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12354505 PCID2 PCI domain containing 2 gene DOID:630 genetic disease ISO RGD:1601857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354527 CLSTN2 calsyntenin 2 gene DOID:630 genetic disease ISO RGD:1350123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354527 CLSTN2 calsyntenin 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1350123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12354551 SLC27A2 solute carrier family 27 member 2 gene DOID:2717 Bloom syndrome ISO RGD:1346073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12354551 SLC27A2 solute carrier family 27 member 2 gene DOID:630 genetic disease ISO RGD:1346073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354551 SLC27A2 solute carrier family 27 member 2 gene DOID:9000784 Fibrosis ISO RGD:1346073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28871336 12354551 SLC27A2 solute carrier family 27 member 2 gene DOID:9256 colorectal cancer ISO RGD:1346073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12354565 PARP6 poly(ADP-ribose) polymerase family member 6 gene DOID:2717 Bloom syndrome ISO RGD:1344996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12354565 PARP6 poly(ADP-ribose) polymerase family member 6 gene DOID:3320 Tay-Sachs disease ISO RGD:1344996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 12354565 PARP6 poly(ADP-ribose) polymerase family member 6 gene DOID:630 genetic disease ISO RGD:1344996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354565 PARP6 poly(ADP-ribose) polymerase family member 6 gene DOID:9256 colorectal cancer ISO RGD:1344996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12354611 MICU1 mitochondrial calcium uptake 1 gene DOID:0080000 muscular disease ISO RGD:1353540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24336167 12354611 MICU1 mitochondrial calcium uptake 1 gene DOID:0080600 COVID-19 ISO RGD:1353540 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12354611 MICU1 mitochondrial calcium uptake 1 gene DOID:0111335 myopathy with extrapyramidal signs ISO RGD:1353540 D RGD:7240710 20180130 OMIM 12354611 MICU1 mitochondrial calcium uptake 1 gene DOID:0111335 myopathy with extrapyramidal signs ISO RGD:1353540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Proximal myopathy with extrapyramidal signs PMID:24033266|PMID:24336167|PMID:25741868|PMID:27159402|PMID:28492532|PMID:28708303|PMID:29721912|PMID:29987015|PMID:31618753|PMID:32395406|PMID:33428302 12354611 MICU1 mitochondrial calcium uptake 1 gene DOID:480 movement disease ISO RGD:1353540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24336167 12354611 MICU1 mitochondrial calcium uptake 1 gene DOID:630 genetic disease ISO RGD:1353540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28708303 12354611 MICU1 mitochondrial calcium uptake 1 gene DOID:679 basal ganglia disease ISO RGD:1353540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24336167 12354611 MICU1 mitochondrial calcium uptake 1 gene DOID:8927 learning disability ISO RGD:1353540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24336167 12354611 MICU1 mitochondrial calcium uptake 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353540 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28708303 12354611 MICU1 mitochondrial calcium uptake 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1353540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:24336167|PMID:25741868|PMID:28492532|PMID:29721912|PMID:33428302 12354687 HMOX2 heme oxygenase 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:68991 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12354687 HMOX2 heme oxygenase 2 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:68991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 12354687 HMOX2 heme oxygenase 2 gene DOID:10024 migraine with aura ISO RGD:68991 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:35115687 12354687 HMOX2 heme oxygenase 2 gene DOID:1826 epilepsy ISO RGD:68991 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12354687 HMOX2 heme oxygenase 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:68991 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12354687 HMOX2 heme oxygenase 2 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:68991 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12354687 HMOX2 heme oxygenase 2 gene DOID:630 genetic disease ISO RGD:68991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354687 HMOX2 heme oxygenase 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:68991 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16459095 12354700 HAGH hydroxyacylglutathione hydrolase gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 12354700 HAGH hydroxyacylglutathione hydrolase gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736814 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12354700 HAGH hydroxyacylglutathione hydrolase gene DOID:1826 epilepsy ISO RGD:736814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12354700 HAGH hydroxyacylglutathione hydrolase gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12354700 HAGH hydroxyacylglutathione hydrolase gene DOID:630 genetic disease ISO RGD:736814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354700 HAGH hydroxyacylglutathione hydrolase gene DOID:9000559 Glyoxalase II Deficiency ISO RGD:736814 D RGD:7240710 20210317 OMIM 12354700 HAGH hydroxyacylglutathione hydrolase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736814 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12354717 PRRC2C proline rich coiled-coil 2C gene DOID:1540 parathyroid carcinoma ISO RGD:1351775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12354717 PRRC2C proline rich coiled-coil 2C gene DOID:630 genetic disease ISO RGD:1351775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354717 PRRC2C proline rich coiled-coil 2C gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1351775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12354717 PRRC2C proline rich coiled-coil 2C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12354777 SULT6B1 sulfotransferase family 6B member 1 gene DOID:0080690 RASopathy ISO RGD:1626598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12354777 SULT6B1 sulfotransferase family 6B member 1 gene DOID:630 genetic disease ISO RGD:1626598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354787 ZNF516 zinc finger protein 516 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1343458 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12354787 ZNF516 zinc finger protein 516 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1343458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 12354787 ZNF516 zinc finger protein 516 gene DOID:1059 intellectual disability ISO RGD:1343458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12354787 ZNF516 zinc finger protein 516 gene DOID:630 genetic disease ISO RGD:1343458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354787 ZNF516 zinc finger protein 516 gene DOID:6420 pulmonary valve stenosis ISO RGD:1343458 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12354787 ZNF516 zinc finger protein 516 gene DOID:8445 intestinal volvulus ISO RGD:1343458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12354787 ZNF516 zinc finger protein 516 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1343458 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 12354787 ZNF516 zinc finger protein 516 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12354787 ZNF516 zinc finger protein 516 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1343458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12354816 MBD2 methyl-CpG binding domain protein 2 gene DOID:1059 intellectual disability ISO RGD:1312368 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12354816 MBD2 methyl-CpG binding domain protein 2 gene DOID:11832 visual epilepsy ISO RGD:1595452 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:12123686|REF_RGD_ID:9587847 12354816 MBD2 methyl-CpG binding domain protein 2 gene DOID:224 transient cerebral ischemia ISO RGD:1595452 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:12421618|REF_RGD_ID:9587846 12354816 MBD2 methyl-CpG binding domain protein 2 gene DOID:4448 macular degeneration ISO RGD:1312369 D RGD:9068941 20200609 RGD PMID:24939308|REF_RGD_ID:9588663 12354816 MBD2 methyl-CpG binding domain protein 2 gene DOID:5419 schizophrenia susceptibility ISO RGD:1312368 D RGD:9068941 20200609 RGD DNA:snps, haplotype:intron, 3' utr:c.1109+1001T>C (rs1145317), c.*450A>G (rs7614) (human) PMID:24849540|REF_RGD_ID:9588659 12354816 MBD2 methyl-CpG binding domain protein 2 gene DOID:630 genetic disease ISO RGD:1312368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354816 MBD2 methyl-CpG binding domain protein 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1312368 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell PMID:20937307|REF_RGD_ID:9588623 12354816 MBD2 methyl-CpG binding domain protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12354816 MBD2 methyl-CpG binding domain protein 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1595452 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:23716065|REF_RGD_ID:9588620 12354816 MBD2 methyl-CpG binding domain protein 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1312368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12354816 MBD2 methyl-CpG binding domain protein 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1312369 D RGD:9068941 20220825 MouseDO OMIM:222100 12354816 Mbd2 methyl-CpG binding domain protein 2 gene DOID:8456 choline deficiency disease ISO RGD:1595452 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:17724018|REF_RGD_ID:9588267 12354826 RIC1 RIC1 homolog, RAB6A GEF complex partner 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1320674 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12354826 RIC1 RIC1 homolog, RAB6A GEF complex partner 1 gene DOID:1826 epilepsy ISO RGD:1320674 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12354826 RIC1 RIC1 homolog, RAB6A GEF complex partner 1 gene DOID:630 genetic disease ISO RGD:1320674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354826 RIC1 RIC1 homolog, RAB6A GEF complex partner 1 gene DOID:9005601 CATIFA Syndrome ISO RGD:1320674 D RGD:7240710 20200226 OMIM 12354826 RIC1 RIC1 homolog, RAB6A GEF complex partner 1 gene DOID:9005601 CATIFA Syndrome ISO RGD:1320674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catifa syndrome PMID:25741868|PMID:27878435|PMID:31932796 12354857 SEMA6B semaphorin 6B gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:731900 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure PMID:25741868 12354857 SEMA6B semaphorin 6B gene DOID:0070338 cerebellar hypoplasia ISO RGD:731900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 12354857 SEMA6B semaphorin 6B gene DOID:0080600 COVID-19 ISO RGD:731900 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12354857 SEMA6B semaphorin 6B gene DOID:1059 intellectual disability ISO RGD:731900 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12354857 SEMA6B semaphorin 6B gene DOID:12849 autistic disorder ISO RGD:731900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12354857 SEMA6B semaphorin 6B gene DOID:13938 amenorrhea ISO RGD:731900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12354857 SEMA6B semaphorin 6B gene DOID:630 genetic disease ISO RGD:731900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12354857 SEMA6B semaphorin 6B gene DOID:9000895 Preterm Intraventricular Hemorrhage ISO RGD:731900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Grade I preterm intraventricular hemorrhage PMID:31474318 12354857 SEMA6B semaphorin 6B gene DOID:9003902 Progressive Myoclonus Epilepsy 11 ISO RGD:731900 D RGD:7240710 20200520 OMIM 12354857 SEMA6B semaphorin 6B gene DOID:9003902 Progressive Myoclonus Epilepsy 11 ISO RGD:731900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 11 PMID:25741868|PMID:28492532|PMID:32169168|PMID:35604360 12354880 NLRP14 NLR family pyrin domain containing 14 gene DOID:0111910 spermatogenic failure ISO RGD:1315283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic Failure PMID:16931801|PMID:20981092|PMID:22344438|PMID:24033266|PMID:25741868 12354880 NLRP14 NLR family pyrin domain containing 14 gene DOID:630 genetic disease ISO RGD:1315283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354899 LHFPL6 LHFPL tetraspan subfamily member 6 gene DOID:630 genetic disease ISO RGD:1347444 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354899 LHFPL6 LHFPL tetraspan subfamily member 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347444 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12354914 CALML5 calmodulin like 5 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1320724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12354914 CALML5 calmodulin like 5 gene DOID:10652 Alzheimer's disease ISO RGD:1320724 D RGD:9068941 20200609 RGD protein:altered expression:neuron,glia PMID:11470324|REF_RGD_ID:13792493 12354914 CALML5 calmodulin like 5 gene DOID:5419 schizophrenia ISO RGD:1320724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12354914 CALML5 calmodulin like 5 gene DOID:630 genetic disease ISO RGD:1320724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354919 LOC487178 protocadherin beta-15 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1321168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12354919 LOC487178 protocadherin beta-15 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12354919 LOC487178 protocadherin beta-15 gene DOID:630 genetic disease ISO RGD:1321168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354919 LOC487178 protocadherin beta-15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12354919 LOC487178 protocadherin beta-15 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12354925 ZPLD1 zona pellucida like domain containing 1 gene DOID:630 genetic disease ISO RGD:1606973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354953 VIL1 villin 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1316011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12354953 VIL1 villin 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1316011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12354953 VIL1 villin 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1316011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12354953 VIL1 villin 1 gene DOID:13580 cholestasis ISO RGD:1316011 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12354953 VIL1 villin 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1316011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12354953 VIL1 villin 1 gene DOID:630 genetic disease ISO RGD:1316011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354953 VIL1 villin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12354978 RXFP3 relaxin family peptide receptor 3 gene DOID:630 genetic disease ISO RGD:1352408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354978 RXFP3 relaxin family peptide receptor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12354983 GRAP GRB2 related adaptor protein gene DOID:0050777 Joubert syndrome ISO RGD:1353606 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12354983 GRAP GRB2 related adaptor protein gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1353606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12354983 GRAP GRB2 related adaptor protein gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1353606 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12354983 GRAP GRB2 related adaptor protein gene DOID:0111642 autosomal recessive nonsyndromic deafness 114 ISO RGD:1353606 D RGD:7240710 20190626 OMIM 12354983 GRAP GRB2 related adaptor protein gene DOID:0111642 autosomal recessive nonsyndromic deafness 114 ISO RGD:1353606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 114 PMID:25741868|PMID:30610177 12354983 GRAP GRB2 related adaptor protein gene DOID:12849 autistic disorder ISO RGD:1353606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12354983 GRAP GRB2 related adaptor protein gene DOID:630 genetic disease ISO RGD:1353606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12354983 GRAP GRB2 related adaptor protein gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1353606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 12354992 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 gene DOID:0060041 autism spectrum disorder ISO RGD:1353739 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12354992 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 gene DOID:10584 retinitis pigmentosa ISO RGD:1353739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 12354992 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 gene DOID:14791 Leber congenital amaurosis ISO RGD:1353739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:28492532 12354992 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 gene DOID:630 genetic disease ISO RGD:1353739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12354992 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 gene DOID:9000789 Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus ISO RGD:1353739 D RGD:7240710 20180130 OMIM 12354992 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 gene DOID:9000789 Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus ISO RGD:1353739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcornea, myopic chorioretinal atrophy, and telecanthus PMID:22686506|PMID:23818446|PMID:24874986|PMID:25741868|PMID:28492532|PMID:28512305 12354992 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 gene DOID:9002033 Knobloch Syndrome ISO RGD:1353739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Knobloch syndrome PMID:21862674|PMID:23667181|PMID:28492532 12354992 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 gene DOID:9004628 Ohdo Syndrome, X-Linked ISO RGD:1353739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ohdo syndrome, X-linked PMID:25741868 12355019 SAMD4A sterile alpha motif domain containing 4A gene DOID:0090043 dystonia 5 ISO RGD:1321222 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:17111153|PMID:19332422|PMID:19491146|PMID:25557619|PMID:28492532|PMID:9667588 12355019 SAMD4A sterile alpha motif domain containing 4A gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:1321222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:18252212|PMID:21340693|PMID:28492532 12355019 SAMD4A sterile alpha motif domain containing 4A gene DOID:303 substance-related disorder ISO RGD:1321222 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12355019 SAMD4A sterile alpha motif domain containing 4A gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1321222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:28580594 12355019 SAMD4A sterile alpha motif domain containing 4A gene DOID:630 genetic disease ISO RGD:1321222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12355051 MTCP1 mature T cell proliferation 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1343111 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12355051 MTCP1 mature T cell proliferation 1 gene DOID:0050476 Barth syndrome ISO RGD:1343111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12355051 MTCP1 mature T cell proliferation 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1343111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12355051 MTCP1 mature T cell proliferation 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1343111 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12355051 MTCP1 mature T cell proliferation 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1343111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12355051 MTCP1 mature T cell proliferation 1 gene DOID:11372 megacolon ISO RGD:1343111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12355051 MTCP1 mature T cell proliferation 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12355051 MTCP1 mature T cell proliferation 1 gene DOID:12849 autistic disorder ISO RGD:1343111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12355051 MTCP1 mature T cell proliferation 1 gene DOID:13628 favism ISO RGD:1343111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12355051 MTCP1 mature T cell proliferation 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1343111 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12355051 MTCP1 mature T cell proliferation 1 gene DOID:607 paraplegia ISO RGD:1343111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12355051 MTCP1 mature T cell proliferation 1 gene DOID:9002720 Splenomegaly ISO RGD:1343111 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12355060 SPAG1 sperm associated antigen 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1321762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:24055112|PMID:25741868|PMID:26228299|PMID:27637300|PMID:28492532|PMID:30067075 12355060 SPAG1 sperm associated antigen 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1321762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:24055112|PMID:25741868|PMID:26228299|PMID:27637300|PMID:28492532|PMID:30067075 12355060 SPAG1 sperm associated antigen 1 gene DOID:0110607 primary ciliary dyskinesia 28 ISO RGD:1321762 D RGD:7240710 20180130 OMIM 12355060 SPAG1 sperm associated antigen 1 gene DOID:0110607 primary ciliary dyskinesia 28 ISO RGD:1321762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 28 PMID:16199547|PMID:17576681|PMID:24033266|PMID:24055112|PMID:25741868|PMID:26139845|PMID:26228299|PMID:27637300|PMID:28492532|PMID:30067075|PMID:9536098 12355060 SPAG1 sperm associated antigen 1 gene DOID:0111590 Cohen syndrome ISO RGD:1321762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12355060 SPAG1 sperm associated antigen 1 gene DOID:630 genetic disease ISO RGD:1321762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12355060 SPAG1 sperm associated antigen 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321762 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:24033266|PMID:24055112|PMID:25741868|PMID:26228299|PMID:27637300|PMID:28492532|PMID:30067075 12355085 DNAJC1 DnaJ heat shock protein family (Hsp40) member C1 gene DOID:1909 melanoma ISO RGD:1318035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12355085 DNAJC1 DnaJ heat shock protein family (Hsp40) member C1 gene DOID:630 genetic disease ISO RGD:1318035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12355115 TFCP2L1 transcription factor CP2 like 1 gene DOID:630 genetic disease ISO RGD:1313494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12355115 TFCP2L1 transcription factor CP2 like 1 gene DOID:784 chronic kidney disease ISO RGD:1313494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:33097957 12355135 TSKS testis specific serine kinase substrate gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1602690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12355135 TSKS testis specific serine kinase substrate gene DOID:2661 myoepithelioma ISO RGD:1602690 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12355135 TSKS testis specific serine kinase substrate gene DOID:630 genetic disease ISO RGD:1602690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12355174 ZNF132 zinc finger protein 132 gene DOID:630 genetic disease ISO RGD:1350451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:0001816 angiosarcoma ISO RGD:736032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:0060680 pigment dispersion syndrome ISO RGD:736033 D RGD:9068941 20220825 MouseDO OMIM:600510 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:736032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:0080600 COVID-19 ISO RGD:736032 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:0110266 cataract 9 multiple types ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:10584 retinitis pigmentosa ISO RGD:736032 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29977801 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:1059 intellectual disability ISO RGD:736032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:10808 gastric ulcer ISO RGD:70936 D RGD:9068941 20200609 RGD Protein:decreased expression:serum PMID:11353854|REF_RGD_ID:1600910 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:12849 autistic disorder ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:1289 neurodegenerative disease ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive neurodegenerative disease PMID:25741868|PMID:28492532|PMID:31623504 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:13550 angle-closure glaucoma ISO RGD:736032 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Glaucoma, primary closed-angle PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:26467025|PMID:28041643|PMID:28492532|PMID:29977801|PMID:30007336|PMID:31623504 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:1405 primary angle-closure glaucoma ISO RGD:736032 D RGD:7240710 20200715 OMIM 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:182 calcinosis ISO RGD:736032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:1826 epilepsy ISO RGD:736032 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:4079 heart valve disease ISO RGD:736032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:4448 macular degeneration ISO RGD:736032 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29977801 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:630 genetic disease ISO RGD:736032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28714951|PMID:29738522|PMID:9536098 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:684 hepatocellular carcinoma severity ISO RGD:70936 D RGD:9068941 20200609 RGD Protein:increased expression PMID:15739185|REF_RGD_ID:1600906 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:83 cataract ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:12415512|PMID:16199547|PMID:19390655|PMID:25456301|PMID:28492532 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:8501 fundus dystrophy ISO RGD:736032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29977801|PMID:32581362 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:8577 ulcerative colitis ISO RGD:70936 D RGD:9068941 20200609 RGD Protein:increased expression:large intestine mucosa PMID:17011522|REF_RGD_ID:1600887 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:891 progressive myoclonus epilepsy ISO RGD:736032 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9000784 Fibrosis ISO RGD:70936 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11592600|REF_RGD_ID:632362 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9002033 Knobloch Syndrome ISO RGD:736032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Knobloch syndrome PMID:10942434|PMID:12415512|PMID:14695535|PMID:1554013|PMID:16199547|PMID:17546652|PMID:17576681|PMID:17975799|PMID:19160445|PMID:19390655|PMID:20799329|PMID:20979194|PMID:21862674|PMID:21937992|PMID:23667181|PMID:24033266|PMID:25456301|PMID:25741868|PMID:26467025|PMID:27259167|PMID:28041643|PMID:28144890|PMID:28492532|PMID:29977801|PMID:30007336|PMID:31415705|PMID:32581362|PMID:32860008|PMID:9536098 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9002525 Hereditary Eye Diseases susceptibility ISO RGD:736032 D RGD:9068941 20200609 RGD Knobloch syndrome, OMIM:267750;DNA:deletion: :c.3514delCT PMID:12415512|REF_RGD_ID:1600885 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9002766 Knobloch Syndrome Type I ISO RGD:736032 D RGD:7240710 20220727 OMIM 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9002766 Knobloch Syndrome Type I ISO RGD:736032 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Knobloch syndrome 1 PMID:12415512|PMID:23667181|PMID:25456301|PMID:25741868|PMID:27259167|PMID:28144890|PMID:28492532|PMID:31415705 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9002928 Colonic Neoplasms severity ISO RGD:70936 D RGD:9068941 20200609 RGD PMID:16437622|REF_RGD_ID:1600901 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:70936 D RGD:9068941 20200609 RGD PMID:10766159|REF_RGD_ID:70690 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9263 homocystinuria ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12355212 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9562 primary ciliary dyskinesia ISO RGD:736032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12355263 ABRA actin binding Rho activating protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1603582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16243910 12355263 ABRA actin binding Rho activating protein gene DOID:630 genetic disease ISO RGD:1603582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12355282 ESX1 ESX homeobox 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12355282 ESX1 ESX homeobox 1 gene DOID:12849 autistic disorder ISO RGD:1350335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12355282 ESX1 ESX homeobox 1 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1350335 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:1720927|PMID:9633722|PMID:9634530 12355282 ESX1 ESX homeobox 1 gene DOID:630 genetic disease ISO RGD:1350335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12355340 TUBD1 tubulin delta 1 gene DOID:0050777 Joubert syndrome ISO RGD:1323696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12355340 TUBD1 tubulin delta 1 gene DOID:630 genetic disease ISO RGD:1323696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:0050073 invasive aspergillosis severity ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:11160230|REF_RGD_ID:11528533 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:0050700 cardiomyopathy ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:myocardium PMID:18806609|REF_RGD_ID:2307006 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:0050848 obstructive sleep apnea ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20855682|REF_RGD_ID:4891459 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:3645 D RGD:9068941 20220715 RGD associated with social isolation;protein:increased expression:tongue (rat) PMID:33411841|REF_RGD_ID:152998999 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype::2518A>G(human) PMID:21883707|REF_RGD_ID:8661694 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:0060180 colitis ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:18690297|REF_RGD_ID:2307009 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:0080016 spina bifida ISO RGD:731046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spina bifida, susceptibility to PMID:11500196|PMID:15466648|PMID:16352737|PMID:16596675|PMID:18940815 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:0080074 neural tube defect ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:0080158 herpes simplex virus keratitis severity ISO RGD:11275 D RGD:9068941 20200609 RGD associated with Herpes Simplex, Type 1 PMID:16997857|REF_RGD_ID:8548890 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:0080162 lupus nephritis severity ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:urine (human) PMID:8558841|REF_RGD_ID:8549732 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:0080162 lupus nephritis susceptibility ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-2518A>G (human) PMID:15188361|REF_RGD_ID:11528534 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:25813056|REF_RGD_ID:14995922 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:24927058|REF_RGD_ID:14995928 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:30369082|REF_RGD_ID:14995462 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:731046 D RGD:9068941 20200609 RGD RNA:increased expression:liver: PMID:24429361|REF_RGD_ID:14975280 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:0080547 non-alcoholic steatohepatitis susceptibility ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:20606728|REF_RGD_ID:21076282 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:0080599 Coronavirus infectious disease ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20484496 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:0080600 COVID-19 ISO RGD:731046 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:0080600 COVID-19 ISO RGD:731046 D RGD:9068941 20200618 RGD protein:increased expression:serum: PMID:32416070|REF_RGD_ID:30296676 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:0080600 COVID-19 ISO RGD:731046 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:0080600 COVID-19 ISO RGD:731046 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:31986264 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:0080600 COVID-19 severity ISO RGD:731046 D RGD:9068941 20200618 RGD protein:increased expression:serum (human) PMID:32427582|REF_RGD_ID:30309200 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:0080600 COVID-19 severity ISO RGD:731046 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|PMID:32360286|REF_RGD_ID:30309209|REF_RGD_ID:30309212 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:11275 D RGD:9068941 20200618 RGD PMID:30626685|REF_RGD_ID:30309198 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:0080998 acute necrotizing pancreatitis severity ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:18642776|REF_RGD_ID:2307010 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:0080998 acute necrotizing pancreatitis treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:19050604|REF_RGD_ID:11062108 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:0081120 Graves ophthalmopathy ISO RGD:731046 D RGD:9068941 20200609 RGD mRNA:increased expression:orbital fat (human) PMID:18284633|REF_RGD_ID:8549459 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:10325 silicosis ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26163174 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:10533 viral pneumonia ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:19617401|REF_RGD_ID:4891451 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:1063 interstitial nephritis ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10385480 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:10762 portal hypertension ISO RGD:731046 D RGD:9068941 20200609 RGD associated with biliary atresia; PMID:17161183|REF_RGD_ID:14995924 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:10763 hypertension ISO RGD:3645 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA, protein:increased expression:kidney cortex, urine PMID:18459944|REF_RGD_ID:2307029 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:10763 hypertension ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:17989143|REF_RGD_ID:2307054 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:10763 hypertension ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20667508|PMID:27292124 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:10763 hypertension treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:17922026|REF_RGD_ID:8549771 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:10871 age related macular degeneration ISO RGD:11275 D RGD:9068941 20220825 MouseDO 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:10873 Kuhnt-Junius degeneration severity ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor of eyeball (human) PMID:20937997|REF_RGD_ID:8548855 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:10941 intracranial aneurysm ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:19164781|REF_RGD_ID:2307000 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:10941 intracranial aneurysm ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:circle of Willis (rat) PMID:25316629|REF_RGD_ID:11522723 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:10952 nephritis ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Purpura, Schoenlein-Henoch;protein:increased expression:urine (human) PMID:24414608|REF_RGD_ID:11528565 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:25839768|REF_RGD_ID:11528567 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:11123 Henoch-Schoenlein purpura susceptibility ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-2518C>T (human) PMID:26234573|REF_RGD_ID:11522500 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:1115 sarcoma ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:25667449|REF_RGD_ID:11528521 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:11204 allergic conjunctivitis ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:19553621|REF_RGD_ID:8548840 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:11339 pneumocystosis ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:20618689|REF_RGD_ID:4891428 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:11396 pulmonary edema ISO RGD:3645 D RGD:9068941 20200609 RGD associated with Shock, Septic;protein:increased expression:lung PMID:18555988|REF_RGD_ID:2307014 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:11446 sciatic neuropathy ISO RGD:11275 D RGD:9068941 20200609 RGD protein:increased expression:lumbar dorsal root ganglion (mouse) PMID:22564672|REF_RGD_ID:8549487 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:11446 sciatic neuropathy ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord dorsal horn, axon terminal (rat) PMID:19059387|REF_RGD_ID:2307005 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:1168 familial hyperlipidemia treatment ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:19525846|REF_RGD_ID:11528561 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:11713 diabetic angiopathy treatment ISO RGD:3645 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23154660|REF_RGD_ID:11526153 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:11714 gestational diabetes ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:18702087|REF_RGD_ID:2306986 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641384 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:1205 allergic disease ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15585374|PMID:21625544 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:12053 cryptococcosis ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (mouse) PMID:11714821|REF_RGD_ID:11528563 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:12140 Chagas disease ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:16844401|REF_RGD_ID:2307145 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:12351 alcoholic hepatitis ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:21826694|REF_RGD_ID:14995491 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:12351 alcoholic hepatitis ISO RGD:731046 D RGD:9068941 20200609 RGD RNA:increased expression:liver: PMID:24429361|REF_RGD_ID:14975280 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:12351 alcoholic hepatitis severity ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:10446112|REF_RGD_ID:14995467 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:12554 hemolytic-uremic syndrome ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:10201001|REF_RGD_ID:11528527 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:12842 Guillain-Barre syndrome disease_progression ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:12507779|REF_RGD_ID:8549645 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:12849 autistic disorder ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:21095018|REF_RGD_ID:8548858 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:1287 cardiovascular system disease ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16332659 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:1287 cardiovascular system disease ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:15627719|REF_RGD_ID:1581158 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:12932 endomyocardial fibrosis ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:14967845|REF_RGD_ID:1581155 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:13100 intracranial vasospasm ISO RGD:3645 D RGD:9068941 20200609 RGD associated with Subarachnoid Hemorrhage;mRNA, protein:increased expression:basilar artery PMID:19401162|REF_RGD_ID:2306995 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:13139 crescentic glomerulonephritis ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:8903512|REF_RGD_ID:8549743 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:13139 crescentic glomerulonephritis treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:17314328|REF_RGD_ID:8549770 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:13141 uveitis ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor PMID:16698015|REF_RGD_ID:8549475 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:13141 uveitis ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor (human) PMID:17591667|REF_RGD_ID:8549485 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;protein:increased expression:vitreous humor (human) PMID:21850157|REF_RGD_ID:8549477 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:13207 proliferative diabetic retinopathy disease_progression ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism:promoter:g.-2518A>G (human) PMID:23549806|REF_RGD_ID:8548851 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:13241 Behcet's disease ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:12712358|REF_RGD_ID:8549488 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:13241 Behcet's disease susceptibility ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-2518A>G (human) PMID:19782713|REF_RGD_ID:8548882 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:13375 temporal arteritis ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:15742444|REF_RGD_ID:1581162 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:13413 hepatic encephalopathy ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain, liver,serum: PMID:29518527|REF_RGD_ID:14995926 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:13603 obstructive jaundice treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:15573249|REF_RGD_ID:8549649 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:1407 anterior uveitis ISO RGD:3645 D RGD:9068941 20200609 RGD associated with Encephalomyelitis, Autoimmune, Experimental;mRNA, protein:increased expression:iris, ciliary body, lumbar spinal cord (rat) PMID:9404715|REF_RGD_ID:8549473 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:1407 anterior uveitis ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs1024610 (human) PMID:16950632|REF_RGD_ID:8661673 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:1407 anterior uveitis susceptibility ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-2518A>G (human) PMID:16280979|REF_RGD_ID:8548843 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:14115 toxic shock syndrome disease_progression ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:28834779|REF_RGD_ID:14995949 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:1474 aggressive periodontitis susceptibility ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype::2518A>G(human) PMID:21264360|REF_RGD_ID:8661707 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:1485 cystic fibrosis ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:20438838|REF_RGD_ID:4143275 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:1532 pleural disease ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10923243 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:1564 fungal infectious disease ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:sinus: PMID:22287435|REF_RGD_ID:7483612 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:1588 thrombocytopenia ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;DNA:snp:promoter:g.-2518A>G (human) PMID:20414371|REF_RGD_ID:11528535 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:1749 squamous cell carcinoma ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25199511 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:182 calcinosis ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21193197|PMID:21335463 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:1824 status epilepticus ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:17950261|REF_RGD_ID:2307057 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:1824 status epilepticus ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19490431|PMID:20034406 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:1936 atherosclerosis ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12677255|PMID:12928151|PMID:20720404 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:1936 atherosclerosis severity ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta (mouse) PMID:15823270|REF_RGD_ID:7401235 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:1936 atherosclerosis treatment ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:11486244|REF_RGD_ID:8548896 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2018 hyperinsulinism ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta (rat) PMID:17180354|REF_RGD_ID:8549642 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2018 hyperinsulinism ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2048 autoimmune hepatitis ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:219 colon cancer ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:21268133|REF_RGD_ID:5135051 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:224 transient cerebral ischemia ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (rat) PMID:7860708|REF_RGD_ID:8549729 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:21487414|REF_RGD_ID:8549519 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2316 brain ischemia ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:19260320|REF_RGD_ID:2306998 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2316 brain ischemia ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914|PMID:17394460 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2349 arteriosclerosis ISO RGD:11275 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:aorta PMID:18093596|REF_RGD_ID:2306988 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2355 anemia treatment ISO RGD:11275 D RGD:9068941 20200609 RGD associated with Colonic Neoplasms PMID:24963216|REF_RGD_ID:11528557 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2377 multiple sclerosis ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype PMID:19865101|REF_RGD_ID:4145472 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2518 orchitis ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:testicle, fluid (rat) PMID:14638441|REF_RGD_ID:1358455 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2773 contact dermatitis ISO RGD:11275 D RGD:9068941 20200609 RGD protein:increased expression:serum (mouse) PMID:22679019|REF_RGD_ID:9590167 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2799 bronchiolitis obliterans ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:14611812|REF_RGD_ID:2307195 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2841 asthma ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:12055264|REF_RGD_ID:11528570 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2841 asthma ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:17964702|REF_RGD_ID:2307055 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2841 asthma ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19373627 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2841 asthma ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:20205697|REF_RGD_ID:4145509 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2841 asthma ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:haplotype::-2518A>G (human) PMID:23454776|REF_RGD_ID:8551842 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2841 asthma severity ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19373627|REF_RGD_ID:4891466 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2841 asthma treatment ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:25441643|REF_RGD_ID:11528569 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:289 endometriosis ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:peritoneal fluid (human) PMID:15005786|REF_RGD_ID:11528566 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2920 membranoproliferative glomerulonephritis treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:10411686|REF_RGD_ID:8549648 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2921 glomerulonephritis ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10385480 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:11275 D RGD:9068941 20200619 RGD mRNA, protein: increased expression, altered expression:lung (mouse) PMID:15356152|REF_RGD_ID:30309221 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20484496 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:731046 D RGD:9068941 20200702 RGD protein:increased expression:bronchoalveolar lavage (human) PMID:15888207|REF_RGD_ID:34201108 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:731046 D RGD:9068941 20200702 RGD protein:increased expression:serum (human) PMID:15602737|REF_RGD_ID:32716399 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:731046 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:16195357|REF_RGD_ID:30309218 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:731046 D RGD:9068941 20200619 RGD protein:increased expression:serum (human) PMID:15657466|REF_RGD_ID:30309219 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:11275 D RGD:9068941 20200702 RGD PMID:32553273|REF_RGD_ID:32716426 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:731046 D RGD:9068941 20200619 RGD PMID:15781938|REF_RGD_ID:30309220 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16352737|PMID:18940815 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:polymorphism: :-2518A>G (human) PMID:20111728|REF_RGD_ID:4891439 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:18433541|REF_RGD_ID:2307041 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:3071 gliosarcoma severity ISO RGD:11275 D RGD:9068941 20200609 RGD mouse gene in a rat model PMID:7489565|REF_RGD_ID:11526112 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:3082 interstitial lung disease ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid;protein:increased expression:serum PMID:20056091|REF_RGD_ID:4891442 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:3082 interstitial lung disease ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;protein:increased expression:plasma PMID:20404807|REF_RGD_ID:4142853 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:3082 interstitial lung disease ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;protein:increased expression:respiratory system fluid/secretion PMID:19615053|REF_RGD_ID:4891453 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:3082 interstitial lung disease treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:1387671|REF_RGD_ID:8549558 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20497022|REF_RGD_ID:4891429 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731046 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:34652871 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:326 ischemia ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:15308783|REF_RGD_ID:1581163 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:3312 bipolar disorder ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:15034225|REF_RGD_ID:1358456 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:3393 coronary artery disease ISO RGD:731046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease, modifier of PMID:11500196|PMID:15466648|PMID:16352737|PMID:16596675|PMID:18940815 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:3407 carotid artery disease ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18022660 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12374626|PMID:23043544|PMID:25257527 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:3526 cerebral infarction treatment ISO RGD:11275 D RGD:9068941 20220930 RGD PMID:29111308|REF_RGD_ID:155260331 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:3612 retinitis ISO RGD:11275 D RGD:9068941 20200609 RGD protein:increased expression:retina (mouse) PMID:25159208|REF_RGD_ID:11528560 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:3770 pulmonary fibrosis ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:20833968|REF_RGD_ID:4145112 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:3770 pulmonary fibrosis ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, eosinophil (rat) PMID:7525714|REF_RGD_ID:8549730 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:3770 pulmonary fibrosis ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16324872|PMID:17720292|PMID:26163174 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30418988 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:399 tuberculosis ISO RGD:731046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:11500196|PMID:15466648|PMID:16352737|PMID:16596675|PMID:18940815 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:4029 gastritis treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:23892052|REF_RGD_ID:11526150 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:4079 heart valve disease ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:409 liver disease ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17125873 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:418 systemic scleroderma ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:19615053|REF_RGD_ID:4891453 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:418 systemic scleroderma ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21285114|REF_RGD_ID:5683876 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:418 systemic scleroderma severity ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:21049277|REF_RGD_ID:5135284 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:4195 hyperglycemia ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:4448 macular degeneration ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:14566334|PMID:24142887|REF_RGD_ID:8548856|REF_RGD_ID:8661224 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:4448 macular degeneration ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:retina PMID:24142887|REF_RGD_ID:8661224 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:4448 macular degeneration ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:17652758|REF_RGD_ID:9491385 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:4448 macular degeneration severity ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor (human) PMID:22172228|REF_RGD_ID:8549496 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:4449 macular retinal edema ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Retinal Vein Occlusion;protein:increased expression:vitreous humor (human) PMID:22066978|REF_RGD_ID:7829760 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:4449 macular retinal edema ISO RGD:731046 D RGD:9068941 20221014 RGD associated with central retinal vein occlusion;protein:increased expression:aqueous humor of eyeball (human) PMID:35799735|REF_RGD_ID:155582223 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:4449 macular retinal edema severity ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Diabetic Retinopathy;protein:increased expression:vitreous humor PMID:19118698|REF_RGD_ID:2306981 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:21894146|REF_RGD_ID:6218988 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:17898087|REF_RGD_ID:2307059 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:20071465|REF_RGD_ID:4145614 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:4989 pancreatitis ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:18297440|PMID:19111613|REF_RGD_ID:2307002|REF_RGD_ID:2307046 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:4989 pancreatitis ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:16284287|REF_RGD_ID:8549548 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:50 thyroid gland disease ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:5082 liver cirrhosis ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20697377 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:5199 ureteral obstruction ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:731046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:14571188 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:5327 retinal detachment ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:17284607|REF_RGD_ID:8548846 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:5327 retinal detachment ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor (human) PMID:19139725|REF_RGD_ID:2316760 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:5419 schizophrenia ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18486454 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:552 pneumonia ISO RGD:11275 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:19648283|REF_RGD_ID:4891461 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:552 pneumonia ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:557 kidney disease ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:15882261|REF_RGD_ID:2307176 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:5844 myocardial infarction ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18459941|REF_RGD_ID:2307033 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:5844 myocardial infarction ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-2518A>G (human) PMID:16116069|REF_RGD_ID:1581161 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:5844 myocardial infarction treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:18753699|REF_RGD_ID:8549616 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:6000 congestive heart failure ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:12950323|REF_RGD_ID:1581156 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:6000 congestive heart failure ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29959987 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:630 genetic disease ISO RGD:731046 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:631 fibromyalgia ISO RGD:731046 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19924498|REF_RGD_ID:14995946 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:6432 pulmonary hypertension ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar lavage fluid (rat) PMID:9605182|REF_RGD_ID:8549547 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:6432 pulmonary hypertension ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:lung, plasma PMID:19087668|REF_RGD_ID:2307003 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:6432 pulmonary hypertension ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15302794|PMID:30418988 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:684 hepatocellular carcinoma ISO RGD:731046 D RGD:9068941 20200609 RGD RNA:increased expression:liver PMID:27980102|REF_RGD_ID:14995459 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:27980102|REF_RGD_ID:14995459 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:12679798|PMID:22402625|REF_RGD_ID:14995468|REF_RGD_ID:14995927 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:7148 rheumatoid arthritis ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20056091|REF_RGD_ID:4891442 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:18482727|REF_RGD_ID:2307015 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:783 end stage renal disease ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:renal proximal tubule (rat) PMID:12080327|REF_RGD_ID:8549739 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:783 end stage renal disease ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110|PMID:19539174 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:783 end stage renal disease susceptibility ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-2518A>G (human) PMID:17982227|REF_RGD_ID:2306990 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:783 end stage renal disease treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:18797164|REF_RGD_ID:2307007 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:801 hemarthrosis ISO RGD:11275 D RGD:9068941 20200609 RGD associated with Hemophilia A;protein:increased expression:synovial fluid (mouse) PMID:19444976|REF_RGD_ID:11528538 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:811 lipodystrophy ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:16697654|REF_RGD_ID:1581157 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:820 myocarditis severity ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:11472393|REF_RGD_ID:8549580 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:823 periapical periodontitis ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:24631631|REF_RGD_ID:8661717 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:824 periodontitis ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:gingiva PMID:17876613|REF_RGD_ID:2306992 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:8466 retinal degeneration ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20361964 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:8469 influenza ISO RGD:11275 D RGD:9068941 20200609 RGD associated with Asthma;protein:decreased expression:alveolar system (mouse) PMID:12707338|REF_RGD_ID:4145439 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:850 lung disease ISO RGD:3645 D RGD:9068941 20200609 RGD Acute Lung Injury;mRNA:increased expression:lung PMID:17304115|REF_RGD_ID:2307141 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:850 lung disease ISO RGD:3645 D RGD:9068941 20200609 RGD associated with Contusions;protein:increased expression:respiratory system fluid/secretion PMID:19515386|REF_RGD_ID:4891456 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:8566 herpes simplex ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA:increased expression:cornea (mouse) PMID:9544579|REF_RGD_ID:8549472 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:874 bacterial pneumonia ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:20042590|REF_RGD_ID:4891443 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:8778 Crohn's disease ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21829567 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:8923 skin melanoma disease_progression ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:SNP: :2578A>G (human) PMID:17169533|REF_RGD_ID:9491398 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:8947 diabetic retinopathy ISO RGD:3645 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:retina (rat) PMID:23010641|REF_RGD_ID:8548887 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9000226 Periodontal Cyst ISO RGD:731046 D RGD:9068941 20200609 RGD mRNA:increased expression:gingiva: PMID:16101967|REF_RGD_ID:8661719 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19247846|REF_RGD_ID:14995923 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9000310 Lung Injury ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19762220 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9000641 Pain ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:18419759|REF_RGD_ID:2307043 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9000722 Animal Hepatitis treatment ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:27980102|REF_RGD_ID:14995459 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:19762564|REF_RGD_ID:4891460 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12388339 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:11275 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:19629725|REF_RGD_ID:4891450 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9000998 Brain Injuries ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:brain, neuron PMID:19210118|REF_RGD_ID:2306999 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9000998 Brain Injuries ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9000998 Brain Injuries treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:11113322|REF_RGD_ID:9587789 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9001004 Chronic Periodontitis ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:20059422|REF_RGD_ID:8661721 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:17389519|REF_RGD_ID:8548832 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9001205 Experimental Autoimmune Orchitis ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:testis (rat) PMID:14638441|REF_RGD_ID:1358455 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:3645 D RGD:9068941 20200609 RGD L5 spinal nerve;proein:increased expression:rostral ventrolateral medulla (rat) PMID:22466130|REF_RGD_ID:8549494 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9001427 Geographic Atrophy ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor of eyeball PMID:24142887|REF_RGD_ID:8661224 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9001472 Nasal Polyps ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:sinus: PMID:22287435|REF_RGD_ID:7483612 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9001488 Human Influenza ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20967263|REF_RGD_ID:4891425 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9001488 Human Influenza ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9001553 Spinal Cord Compression ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, serum (rat) PMID:15855648|REF_RGD_ID:11526154 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9001553 Spinal Cord Compression ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15135227 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:19144177|REF_RGD_ID:2307001 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15492853 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:28437891|REF_RGD_ID:14995945 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:15492853|REF_RGD_ID:8549576 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9001606 Acute Anterior Uveitis severity ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor (human) PMID:9426952|REF_RGD_ID:8549479 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9001614 Chronic Tubulointerstitial Nephropathy ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:10844611|PMID:11135063|REF_RGD_ID:10755562|REF_RGD_ID:8549481 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:24325836|REF_RGD_ID:11526144 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, serum (rat) PMID:9500701|REF_RGD_ID:8549627 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002159 Liver Reperfusion Injury severity ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:27229110|REF_RGD_ID:14995460 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:10630515|REF_RGD_ID:14995929 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:3645 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney PMID:19369290|REF_RGD_ID:2306980 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:3645 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:increased expression:kidney PMID:18031723|REF_RGD_ID:2306989 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16374426 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:urine PMID:19097668|REF_RGD_ID:2306982 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:19409809|REF_RGD_ID:2306979 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:11275 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17968528|REF_RGD_ID:2306991 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002211 Hyperalgesia ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:20737477|REF_RGD_ID:8548848 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002211 Hyperalgesia ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:18419759|PMID:22531750|REF_RGD_ID:2307043|REF_RGD_ID:8548845 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002211 Hyperalgesia ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion, spinal cord (rat) PMID:21712071|REF_RGD_ID:8548873 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002211 Hyperalgesia ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17881535 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:11275 D RGD:9068941 20200609 RGD associated with Schistosomiasis mansoni PMID:12600821|REF_RGD_ID:4145441 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002287 Respiratory Tract Granuloma treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:9042155|REF_RGD_ID:8549740 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002311 Experimental Autoimmune Myocarditis disease_progression ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart, serum (rat) PMID:11472393|REF_RGD_ID:8549580 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002371 Cardiotoxicity ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29959987 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002457 Experimental Arthritis ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:18292571|PMID:18726678|REF_RGD_ID:2307008|REF_RGD_ID:2307052 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002457 Experimental Arthritis ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:synovium PMID:17052673|REF_RGD_ID:2307143 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:24583103|REF_RGD_ID:11526142 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:23032084|REF_RGD_ID:14995948 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:dermis, neutrophil (rat) PMID:8774140|REF_RGD_ID:8549532 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002633 Premature Obstetric Labor ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18606702 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002669 Hypoxia ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:20813992|REF_RGD_ID:8549511 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:decreased expression:lymph node PMID:19865101|REF_RGD_ID:4145472 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:optic chiasma (rat) PMID:11241588|REF_RGD_ID:8548888 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:17666800|REF_RGD_ID:2307114 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002906 Multiple Organ Failure ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:serum, peritoneal fluid (rat) PMID:15793719|REF_RGD_ID:8549633 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (mouse) PMID:16710171|REF_RGD_ID:8548878 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:19038868|REF_RGD_ID:11526145 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA:increased expression:cochlea (mouse) PMID:17081714|REF_RGD_ID:8549464 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:731046 D RGD:9068941 20200609 RGD human gene in mouse model PMID:16224495|REF_RGD_ID:8548881 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9003219 Invasive Pulmonary Aspergillosis treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:12917249|REF_RGD_ID:11528529 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9003617 Carrington Syndrome ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:alveolar system (human) PMID:11488333|REF_RGD_ID:11528564 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:nasal turbinate, mucosa (human) PMID:9865755|REF_RGD_ID:8548839 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:forebrain (rat) PMID:9270493|REF_RGD_ID:8549543 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9003779 Vasculitis of the Skin susceptibility ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;DNA:snp:promoter:g.-2518A>G (human) PMID:11844145|REF_RGD_ID:11528536 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9003871 Venous Thrombosis ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:vein PMID:18167211|REF_RGD_ID:2307053 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9003969 Peri-Implantitis ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:20059422|REF_RGD_ID:8661721 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9004009 Reperfusion Injury ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12468449|PMID:15829914 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9004009 Reperfusion Injury treatment ISO RGD:3645 D RGD:9068941 20200609 RGD Gastric Reperfusion Injury PMID:22611311|REF_RGD_ID:8549744 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9004017 Chronic Hepatitis C ISO RGD:731046 D RGD:9068941 20200609 RGD RNA:increased expression:liver: PMID:24429361|REF_RGD_ID:14975280 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9004059 Eye Neoplasms ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA:increased expression:eye (mouse) PMID:18958307|REF_RGD_ID:8549483 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9004283 Transplant Rejection ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:14662900|REF_RGD_ID:8657367 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9004283 Transplant Rejection susceptibility ISO RGD:731046 D RGD:9068941 20200609 RGD kidney;DNA:snp:promoter:g.-2518A>G (human) PMID:12239249|REF_RGD_ID:8548879 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9004484 Sepsis ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum PMID:19111613|REF_RGD_ID:2307002 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731046 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:25199511|PMID:32512068 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9004590 Acute Liver Failure ISO RGD:731046 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:8283136|REF_RGD_ID:8549567 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9004590 Acute Liver Failure ISO RGD:731046 D RGD:9068941 20200609 RGD protein, mRNA:increased expression:serum, liver PMID:12579535|REF_RGD_ID:14995451 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9004610 Acute Lung Injury ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:21767135|REF_RGD_ID:6480432 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9004912 Hyperoxaluria ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284884 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9004974 Painful Neuropathy ISO RGD:11275 D RGD:9068941 20200609 RGD protein:increased expression:medulla oblongata, dorsal horn of spinal cord (mouse) PMID:22721162|REF_RGD_ID:8548831 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9004974 Painful Neuropathy ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:ipsilateral side, dorsal root ganglion (rat) PMID:15041200|REF_RGD_ID:8548884 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9005036 Bacteremia ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Febrile Neutropenia;protein:increased expression:serum (human) PMID:22584776|REF_RGD_ID:11528568 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9005166 Contusions ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16832247|REF_RGD_ID:2307147 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9005372 Inflammation ISO RGD:3645 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:aorta PMID:20921064|REF_RGD_ID:4891427 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9005372 Inflammation ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14570645|PMID:19762220|PMID:20816778 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:gingiva PMID:17876613|REF_RGD_ID:2306992 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18976114|REF_RGD_ID:2306984 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:16891764|REF_RGD_ID:8549535 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:iris, ciliary body, popliteal lymph nodes (rat) PMID:15109911|REF_RGD_ID:8549495 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9005930 Endotoxemia ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19060786|REF_RGD_ID:2307004 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:15353495|REF_RGD_ID:11526152 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:731046 D RGD:9068941 20200609 RGD PMID:12223446|REF_RGD_ID:8549774 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, lung, serum PMID:20396927|REF_RGD_ID:4891433 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:18650485|REF_RGD_ID:11526113 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9006559 Granulomatous Vasculitis ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:8231108|REF_RGD_ID:8549573 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9006614 Lower Extremity Deep Vein Thrombosis ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;protein:increased expression:serum (human) PMID:16273763|REF_RGD_ID:8548850 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9006618 Liver Metastasis disease_progression ISO RGD:731046 D RGD:9068941 20200609 RGD associated with colorectal cancer PMID:27058904|REF_RGD_ID:14995463 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA:increased expression:eye: PMID:12605265|REF_RGD_ID:8661671 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16188961|PMID:18486454 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9006684 Inflammatory Breast Neoplasms ISO RGD:731046 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32512068 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:731046 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32512068 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731046 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9006939 Lyme Neuroborreliosis ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:16358960|REF_RGD_ID:11528571 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9006944 Alcoholic Fatty Liver treatment ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:25557254|REF_RGD_ID:14995489 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9007096 Stroke ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:brain, neuron PMID:18473828|REF_RGD_ID:2307024 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9007096 Stroke ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-2518A>G (human) PMID:15308783|REF_RGD_ID:1581163 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:plasma, heart (rat) PMID:10068207|REF_RGD_ID:8549542 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25199511 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9007364 Mouth Neoplasms no_association ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:polymorphism::2518G>A(human) PMID:21570337|REF_RGD_ID:8661698 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:21813474|PMID:30663942|REF_RGD_ID:14995458|REF_RGD_ID:14995466 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9007692 Insulin Resistance ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:22983634|REF_RGD_ID:8548844 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9007692 Insulin Resistance ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Obesity in Diabetes;DNA:polymorphism:promoter:-2518A>G (human) PMID:18762729|REF_RGD_ID:2306985 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17380299 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9007752 Chronic Relapsing Experimental Autoimmune Encephalomyelitis ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord (rat) PMID:12098510|REF_RGD_ID:8655962 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:small intestine PMID:18475188|REF_RGD_ID:2307016 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:10908159|REF_RGD_ID:8549625 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12087064 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9007988 Granulomatous Interstitial Nephritis ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, serum (rat) PMID:20231821|REF_RGD_ID:11526149 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9008163 Chronic Hepatitis B ISO RGD:731046 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:26281331|REF_RGD_ID:14995947 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9008313 Febrile Neutropenia ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Hematologic Diseases;protein:increased expression:plasma (human) PMID:23369970|REF_RGD_ID:11528559 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9008414 Pulmonary Contusion ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:alveolar system (rat) PMID:16044083|REF_RGD_ID:11060268 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9008609 Endotoxin-Induced Uveitis treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:18087711|REF_RGD_ID:2298858 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9008881 Coronary Artery Disease, Development of, in HIV ISO RGD:731046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease, development of, in HIV PMID:11500196|PMID:15466648|PMID:16352737|PMID:16596675|PMID:18940815 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-2518A>G (human) PMID:11844145|REF_RGD_ID:11528536 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:731046 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-2518A>G (human) PMID:20414371|REF_RGD_ID:11528535 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9111 cutaneous leishmaniasis ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20102417 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9119 acute myeloid leukemia ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:17822317|REF_RGD_ID:11528537 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:25382729|REF_RGD_ID:11528532 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9279 hyperhomocysteinemia ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (rat) PMID:17977907|REF_RGD_ID:8549578 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:18388116|REF_RGD_ID:2301862 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:25899686|REF_RGD_ID:14995493 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9446 cholangitis treatment ISO RGD:3645 D RGD:9068941 20200609 RGD PMID:17102917|REF_RGD_ID:14995925 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9452 fatty liver disease ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:22983634|REF_RGD_ID:8548844 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9452 fatty liver disease ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29684222 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9477 pulmonary embolism ISO RGD:3645 D RGD:9068941 20200609 RGD mRNA:increased expression:heart right ventricle (rat) PMID:16814320|REF_RGD_ID:11528528 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9538 multiple myeloma ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16918137 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9675 pulmonary emphysema disease_progression ISO RGD:731046 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:sputum PMID:20966041|REF_RGD_ID:4891458 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731046 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19092169|REF_RGD_ID:2306983 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreatic islet (mouse) PMID:11317664|REF_RGD_ID:8549575 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9970 obesity ISO RGD:3645 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18469848|REF_RGD_ID:2307038 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9970 obesity ISO RGD:731046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 12355366 CCL2 C-C motif chemokine ligand 2 gene DOID:9970 obesity ISO RGD:731046 D RGD:9068941 20200609 RGD protein, mRNA:increased expression:plasma, fat PMID:17803693|REF_RGD_ID:2306993 12355366 Ccl2 chemokine (C-C motif) ligand 2 gene DOID:1577 limited scleroderma ISO RGD:11275 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:skin: PMID:12925209|REF_RGD_ID:8661733 12355373 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:0060369 Parkinson's disease 6 ISO RGD:1319052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:25741868|PMID:28492532 12355373 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1319052 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12355373 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1319052 D RGD:7240710 20180130 OMIM 12355373 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1319052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:16199547|PMID:17576681|PMID:22305527|PMID:25741868|PMID:28492532|PMID:34462534|PMID:9536098 12355373 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:1059 intellectual disability ISO RGD:1319052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12355373 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:14330 Parkinson's disease ISO RGD:1319052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Recessive PMID:25741868|PMID:28492532 12355373 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:5212 congenital disorder of glycosylation ISO RGD:1319052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 12355373 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:630 genetic disease ISO RGD:1319052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12355373 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1319052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:0050700 cardiomyopathy ISO RGD:1318944 D RGD:9068941 20200609 RGD PMID:22976834|REF_RGD_ID:10402865 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:0070000 3-methylglutaconic aciduria type 8 ISO RGD:1318943 D RGD:7240710 20190315 OMIM 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:0070000 3-methylglutaconic aciduria type 8 ISO RGD:1318943 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 8 PMID:17576681|PMID:25531304|PMID:25741868|PMID:27208207|PMID:27696117|PMID:28492532|PMID:9536098 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1318943 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:0080855 Parkinsonism ISO RGD:1318943 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26558463 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:10283 prostate cancer ISO RGD:1318943 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate (human) PMID:17207090|REF_RGD_ID:5688749 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:10534 stomach cancer ISO RGD:1318943 D RGD:9068941 20200609 RGD protein:increased expression:gastric mucosa (human) PMID:12887511|REF_RGD_ID:5688748 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1318943 D RGD:9068941 20200609 RGD protein:increased activity:frontal cortex (human) PMID:21163861|REF_RGD_ID:5688722 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:11088 asphyxia neonatorum treatment ISO RGD:1308906 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:20704803|REF_RGD_ID:10402931 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:11383 cryptorchidism ISO RGD:1308906 D RGD:9068941 20200609 RGD PMID:16563141|REF_RGD_ID:10402928 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:12858 Huntington's disease ISO RGD:1318944 D RGD:9068941 20200609 RGD protein:increased expression:striatal neuron (mouse) PMID:18662332|REF_RGD_ID:5688723 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:1380 endometrial cancer ISO RGD:1318943 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium (human) PMID:19424634|REF_RGD_ID:5688747 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:14330 Parkinson's disease ISO RGD:1318943 D RGD:9068941 20200609 RGD DNA:missense mutation, transversion:cds, intron:p.G26E, g.IVS5+29T>A (human) PMID:21338583|REF_RGD_ID:5688714 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:14330 Parkinson's disease ISO RGD:1318943 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P143A (human) PMID:21701785|REF_RGD_ID:5688395 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:14330 Parkinson's disease ISO RGD:1318943 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R404W (human) PMID:18401856|REF_RGD_ID:5688393 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:14330 Parkinson's disease ISO RGD:1318943 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.A141S, p.G399S (human) PMID:15961413|REF_RGD_ID:5688381 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:14330 Parkinson's disease ISO RGD:1318944 D RGD:9068941 20200609 RGD PMID:15509788|REF_RGD_ID:5688367 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:14330 Parkinson's disease ISO RGD:1318944 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.S276C (mouse) PMID:14534547|REF_RGD_ID:5688392 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:14330 Parkinson's disease no_association ISO RGD:1318943 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.A141S, p.G399S (human) PMID:18364387|REF_RGD_ID:5688394 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:1824 status epilepticus ISO RGD:1308906 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus CA1, neuron, cytoplasm (rat) PMID:21132459|REF_RGD_ID:5688370 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:224 transient cerebral ischemia ISO RGD:1318943 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15306124 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:1308906 D RGD:9068941 20200609 RGD PMID:19462455|REF_RGD_ID:10402932 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:231 motor neuron disease ISO RGD:1318944 D RGD:9068941 20200609 RGD PMID:22976834|REF_RGD_ID:10402865 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:231 motor neuron disease treatment ISO RGD:1318943 D RGD:9068941 20200609 RGD PMID:22976834|REF_RGD_ID:10402865 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:2394 ovarian cancer ISO RGD:1318943 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary (human) PMID:18241672|REF_RGD_ID:5688746 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:3007 breast ductal carcinoma ISO RGD:1318943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:1308906 D RGD:9068941 20200609 RGD protein:increased expression:brain, cytosol (rat) PMID:16978742|REF_RGD_ID:2314385 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:1318944 D RGD:9068941 20200609 RGD protein:increased expression:brain, cytosol (mouse) PMID:15306124|REF_RGD_ID:5688372 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:543 dystonia ISO RGD:1318943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:630 genetic disease ISO RGD:1318943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1318943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:9002644 Premature Aging ISO RGD:1318944 D RGD:9068941 20200609 RGD PMID:22976834|REF_RGD_ID:10402865 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:9002720 Splenomegaly ISO RGD:1318944 D RGD:9068941 20200609 RGD PMID:22976834|REF_RGD_ID:10402865 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:9002859 Parkinson's Disease 13 ISO RGD:1318943 D RGD:7240710 20180130 OMIM 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:9002859 Parkinson's Disease 13 ISO RGD:1318943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to PMID:15961413|PMID:18364387|PMID:18401856|PMID:18790661|PMID:19118185|PMID:21163861|PMID:21338583|PMID:21701785|PMID:25422467|PMID:25741868|PMID:28492532 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:9004484 Sepsis treatment ISO RGD:1308906 D RGD:9068941 20200609 RGD PMID:23557966|REF_RGD_ID:10402934 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:9007456 Female Infertility ISO RGD:1318944 D RGD:9068941 20200609 RGD PMID:22976834|REF_RGD_ID:10402865 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1318944 D RGD:9068941 20200609 RGD protein:increased expression:myocardium, cytosol (mouse) PMID:15611365|REF_RGD_ID:5688376 12355387 HTRA2 HtrA serine peptidase 2 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1318943 D RGD:9068941 20220609 RGD protein:decreased expression:colorectal mucosa (human) PMID:32486357|REF_RGD_ID:152977762 12355399 SERINC1 serine incorporator 1 gene DOID:1826 epilepsy ISO RGD:1349070 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12355399 SERINC1 serine incorporator 1 gene DOID:630 genetic disease ISO RGD:1349070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12355413 CSNK2A1 casein kinase 2 alpha 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:733323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 12355413 CSNK2A1 casein kinase 2 alpha 1 gene DOID:0060041 autism spectrum disorder ISO RGD:733323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12355413 CSNK2A1 casein kinase 2 alpha 1 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:733323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:20206331|PMID:22824638|PMID:24239381|PMID:25462087|PMID:28492532 12355413 CSNK2A1 casein kinase 2 alpha 1 gene DOID:1059 intellectual disability ISO RGD:733323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12355413 CSNK2A1 casein kinase 2 alpha 1 gene DOID:1612 breast cancer ISO RGD:733323 D RGD:9068941 20200609 RGD PMID:11827167|REF_RGD_ID:727632 12355413 CSNK2A1 casein kinase 2 alpha 1 gene DOID:1749 squamous cell carcinoma ISO RGD:733323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 12355413 CSNK2A1 casein kinase 2 alpha 1 gene DOID:5844 myocardial infarction ISO RGD:621663 D RGD:9068941 20200609 RGD PMID:15090263|REF_RGD_ID:11565830 12355413 CSNK2A1 casein kinase 2 alpha 1 gene DOID:630 genetic disease ISO RGD:733323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11574463|PMID:24395637|PMID:25363768|PMID:25741868|PMID:27048600|PMID:28135719|PMID:28492532|PMID:29240241|PMID:29383814|PMID:29619237|PMID:30655572|PMID:32746809 12355413 CSNK2A1 casein kinase 2 alpha 1 gene DOID:9001345 Okur-Chung Neurodevelopmental Syndrome ISO RGD:733323 D RGD:7240710 20190315 OMIM 12355413 CSNK2A1 casein kinase 2 alpha 1 gene DOID:9001345 Okur-Chung Neurodevelopmental Syndrome ISO RGD:733323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Okur-Chung neurodevelopmental syndrome PMID:11574463|PMID:24395637|PMID:25363768|PMID:25741868|PMID:27048600|PMID:28135719|PMID:28492532|PMID:28725024|PMID:29240241|PMID:29383814|PMID:29619237|PMID:30655572|PMID:32746809|PMID:34038195 12355413 CSNK2A1 casein kinase 2 alpha 1 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:733324 D RGD:9068941 20200609 RGD PMID:16651637|REF_RGD_ID:11565123 12355413 CSNK2A1 casein kinase 2 alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12355413 CSNK2A1 casein kinase 2 alpha 1 gene DOID:9004464 Skin Neoplasms ISO RGD:733323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 12355413 CSNK2A1 casein kinase 2 alpha 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:621663 D RGD:9068941 20200609 RGD PMID:11827167|REF_RGD_ID:727632 12355413 CSNK2A1 casein kinase 2 alpha 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733324 D RGD:9068941 20200609 RGD PMID:11827167|REF_RGD_ID:727632 12355413 CSNK2A1 casein kinase 2 alpha 1 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:733323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532 12355413 CSNK2A1 casein kinase 2 alpha 1 gene DOID:9008051 Luscan-Lumish Syndrome ISO RGD:733323 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Luscan-Lumish syndrome PMID:25741868 12355413 CSNK2A1 casein kinase 2 alpha 1 gene DOID:9008582 Developmental Disease ISO RGD:733323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:11574463|PMID:24395637|PMID:25741868|PMID:27048600|PMID:28135719|PMID:29383814 12355430 CHD6 chromodomain helicase DNA binding protein 6 gene DOID:11054 urinary bladder cancer ISO RGD:1321381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 12355430 CHD6 chromodomain helicase DNA binding protein 6 gene DOID:2234 focal epilepsy ISO RGD:1321381 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12355430 CHD6 chromodomain helicase DNA binding protein 6 gene DOID:2671 transitional cell carcinoma ISO RGD:1321381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 12355430 CHD6 chromodomain helicase DNA binding protein 6 gene DOID:630 genetic disease ISO RGD:1321381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12355430 CHD6 chromodomain helicase DNA binding protein 6 gene DOID:769 neuroblastoma ISO RGD:1321381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18577749 12355430 CHD6 chromodomain helicase DNA binding protein 6 gene DOID:7788 adult spinal cord ependymoma ISO RGD:1321381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adult spinal cord ependymoma 12355430 CHD6 chromodomain helicase DNA binding protein 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28202706|PMID:28379373|PMID:28492532|PMID:29068549|PMID:30795902 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:735777 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Macrocephaly and epileptic encephalopathy PMID:17347258|PMID:19589774|PMID:26633542|PMID:28492532 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0050562 West syndrome ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: West syndrome PMID:14504318|PMID:18930999|PMID:19563458|PMID:20452746|PMID:22848613|PMID:25741868|PMID:28492532 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:1868258|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25576396|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26252084|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27652284|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28492532|PMID:28525652|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30558019|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31069529|PMID:31302675|PMID:31439038|PMID:31487502|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909|PMID:32538476|PMID:32573669 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:32581296|PMID:32581362|PMID:9126059|PMID:9536098 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:1868258|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25576396|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26252084|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27652284|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28492532|PMID:28525652|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30558019|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31069529|PMID:31302675|PMID:31439038|PMID:31487502|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:9126059|PMID:9536098 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:15805193|PMID:16199547|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25576396|PMID:25590135|PMID:25741868|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26236192|PMID:26314341|PMID:26339958|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26699486|PMID:26763045|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28525652|PMID:28708303|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29145747|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:31001185|PMID:31031587|PMID:31069529|PMID:31487502|PMID:31730442|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:33391346|PMID:9126059|PMID:9536098 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11756608|PMID:11823106|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:15880351|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18251839|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18621678|PMID:18632234|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19220312|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20301562|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21488303|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22028529|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22525008|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22944210|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23032131|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23485646|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25108116|PMID:25206388|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25569746|PMID:25576396|PMID:25590135|PMID:25640679|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25795284|PMID:25818041|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26236192|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26680202|PMID:26699486|PMID:26716362|PMID:26763045|PMID:26845707|PMID:26863999|PMID:26934580|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27458797|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27652284|PMID:27734276|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28379373|PMID:28387369|PMID:28469861|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28518218|PMID:28525652|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28735751|PMID:28794249|PMID:28837158|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29095814|PMID:29100083|PMID:29141279 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:29142202|PMID:29145747|PMID:29186148|PMID:29188601|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29573403|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:29930392|PMID:29948376|PMID:30011152|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30558019|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30795902|PMID:30805006|PMID:30868114|PMID:30945278|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31031587|PMID:31069529|PMID:31164858|PMID:31175295|PMID:31273778|PMID:31302675|PMID:31439038|PMID:31487502|PMID:31618753|PMID:31677916|PMID:31720899|PMID:31730442|PMID:31755124|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:31875159|PMID:31880072|PMID:32056211|PMID:32090326|PMID:32238909|PMID:32276107|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:32613771|PMID:32702657|PMID:33278787|PMID:33391346|PMID:33674996|PMID:33895391|PMID:34015165|PMID:34055682|PMID:34338318|PMID:34379890|PMID:34489640|PMID:34539730|PMID:9126059|PMID:9536098|PMID:9573403 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11756608|PMID:11823106|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15133511|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:15880351|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18251839|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18566737|PMID:18621678|PMID:18632234|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19220312|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20301562|PMID:20307669|PMID:20358599|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21488303|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22028529|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22525008|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22944210|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23032131|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23485646|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25108116|PMID:25206388|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25569746|PMID:25576396|PMID:25590135|PMID:25640679|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25795284|PMID:25818041|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26236192|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26680202|PMID:26699486|PMID:26716362|PMID:26763045|PMID:26845707|PMID:26863999|PMID:26934580|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27458797|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27652284|PMID:27734276|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28379373|PMID:28387369|PMID:28469861|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28518218|PMID:28525652|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28735751|PMID:28794249|PMID:28837158|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:29095814|PMID:29100083|PMID:29141279|PMID:29141311|PMID:29142202|PMID:29145747|PMID:29186148|PMID:29188601|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29573403|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:29930392|PMID:29948376|PMID:30011152|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30558019|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30795902|PMID:30805006|PMID:30868114|PMID:30945278|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31031587|PMID:31069529|PMID:31164858|PMID:31175295|PMID:31273778|PMID:31302675|PMID:31439038|PMID:31487502|PMID:31618753|PMID:31677916|PMID:31720899|PMID:31730442|PMID:31755124|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:31875159|PMID:31880072|PMID:32056211|PMID:32090326|PMID:32238909|PMID:32276107|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:32613771|PMID:32702657|PMID:33278787|PMID:33391346|PMID:33674996|PMID:33895391|PMID:34015165|PMID:34055682|PMID:34338318|PMID:34379890|PMID:34489640|PMID:34539730|PMID:9126059|PMID:9536098|PMID:9573403 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0060041 autism spectrum disorder ISO RGD:735777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21572417 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0060041 autism spectrum disorder ISO RGD:735778 D RGD:9068941 20220825 MouseDO 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:735777 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus PMID:24337656|PMID:25741868|PMID:26467025|PMID:27781031|PMID:28492532|PMID:32090326|PMID:32427350 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0060178 familial hemiplegic migraine ISO RGD:735777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:18621678|PMID:19220312|PMID:20301562|PMID:25741868|PMID:26467025|PMID:28012175|PMID:28492532|PMID:31880072 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Infantile spasm PMID:18930999|PMID:19563458|PMID:20452746|PMID:22848613|PMID:25741868|PMID:28492532 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:10486327|PMID:10742094|PMID:11118488|PMID:11940708|PMID:12083760|PMID:12086636|PMID:14702334|PMID:14738421|PMID:16458823|PMID:18930999|PMID:20100831|PMID:20522430|PMID:21844054|PMID:21864321|PMID:22151702|PMID:23195492|PMID:23808377|PMID:24277604|PMID:25378155|PMID:25741868|PMID:26096185|PMID:26467025|PMID:27267376|PMID:28084635|PMID:28150151|PMID:28492532|PMID:28842445|PMID:29655203|PMID:29760947|PMID:30525188|PMID:30659983|PMID:31782251 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:10486327|PMID:10742094|PMID:11118488|PMID:11940708|PMID:12083760|PMID:12086636|PMID:14702334|PMID:14738421|PMID:16458823|PMID:17347258|PMID:17903680|PMID:18930999|PMID:19585586|PMID:19586930|PMID:20522430|PMID:21248271|PMID:21844054|PMID:21864321|PMID:22151702|PMID:22156295|PMID:23195492|PMID:23527921|PMID:23808377|PMID:23917401|PMID:24277604|PMID:24328833|PMID:25378155|PMID:25741868|PMID:26096185|PMID:26188943|PMID:26467025|PMID:26680202|PMID:27267376|PMID:27465585|PMID:27781031|PMID:28084635|PMID:28150151|PMID:28492532|PMID:28735751|PMID:28842445|PMID:29760947|PMID:30525188|PMID:30659983|PMID:30868114|PMID:31782251|PMID:32238909 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:735777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:10486327|PMID:10742094|PMID:11118488|PMID:11940708|PMID:12083760|PMID:12086636|PMID:14702334|PMID:14738421|PMID:16458823|PMID:16525050|PMID:17054684|PMID:17347258|PMID:17576681|PMID:17903680|PMID:18930999|PMID:19585586|PMID:19586930|PMID:20100831|PMID:20522430|PMID:21248271|PMID:21719429|PMID:21844054|PMID:21864321|PMID:22151702|PMID:22156295|PMID:23195492|PMID:23527921|PMID:23808377|PMID:23917401|PMID:24277604|PMID:24328833|PMID:25378155|PMID:25576396|PMID:25669891|PMID:25741868|PMID:26096185|PMID:26188943|PMID:26467025|PMID:26544041|PMID:26680202|PMID:27267376|PMID:27465585|PMID:27781031|PMID:28079314|PMID:28084635|PMID:28150151|PMID:28387369|PMID:28492532|PMID:28735751|PMID:28842445|PMID:29100083|PMID:29655203|PMID:29760947|PMID:30525188|PMID:30659983|PMID:30868114|PMID:31782251|PMID:32056211|PMID:32238909|PMID:9536098 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28202706|PMID:28379373|PMID:28492532|PMID:29068549|PMID:30795902 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0070309 absence epilepsy ISO RGD:735777 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Absence seizures PMID:11254445|PMID:18021921|PMID:21396429|PMID:22550089|PMID:22780858|PMID:23398611|PMID:24679980|PMID:25741868|PMID:26990884|PMID:28492532|PMID:29358611|PMID:31765958 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0080422 Dravet syndrome ISO RGD:735777 D RGD:7240710 20180228 OMIM 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0080422 Dravet syndrome ISO RGD:735777 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 6 | ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15263074|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17000989|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18566737|PMID:18680191|PMID:18804930|PMID:1893009|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19350499|PMID:19359143|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19782004|PMID:19809937|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20301494|PMID:20431604|PMID:20452746|PMID:20491869|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20831750|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21425109|PMID:21555645|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21753172|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:22944210|PMID:23086956|PMID:23195492|PMID:23398611|PMID:23527921|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23773995|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24328833|PMID:24502503|PMID:24656210|PMID:24679980|PMID:24776920|PMID:25206388|PMID:25243660|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25459968|PMID:25459969|PMID:25525159|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25741869|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25986186|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:29056246|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:29948376|PMID:30034362|PMID:30142967|PMID:30146492|PMID:30182498|PMID:30311386|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30735520|PMID:30868114|PMID:30945278|PMID:31001185|PMID:31031587|PMID:31069529|PMID:31102827|PMID:31139143|PMID:31164858|PMID:31439038|PMID:31765958|PMID:31780880|PMID:31791873|PMID:31864146|PMID:31875159|PMID:32056211|PMID:32238909|PMID:32461654|PMID:32488064|PMID:32538476|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32702657|PMID:33278787|PMID:33674996|PMID:34015165|PMID:34379890|PMID:34489640|PMID:34539730|PMID:9536098|PMID:9573403 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome PMID:11940708|PMID:12083760|PMID:16458823|PMID:20522430|PMID:22151702|PMID:23195492|PMID:23808377|PMID:25741868|PMID:26096185|PMID:26467025|PMID:28492532 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:735777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome PMID:11940708|PMID:12083760|PMID:16458823|PMID:20522430|PMID:22151702|PMID:23195492|PMID:23808377|PMID:25741868|PMID:26096185|PMID:26467025|PMID:26544041|PMID:28079314|PMID:28387369|PMID:28492532|PMID:29100083|PMID:32056211 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0080718 GNE myopathy ISO RGD:735777 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: INCLUSION BODY MYOPATHY, HEREDITARY, AUTOSOMAL RECESSIVE PMID:12083760|PMID:15277629|PMID:17054685|PMID:18076640|PMID:21248271|PMID:25741868|PMID:28102150|PMID:28492532|PMID:28708303 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gait disturbance PMID:25741868|PMID:28492532 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0111112 nephronophthisis 1 ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0111183 familial hemiplegic migraine 3 ISO RGD:735777 D RGD:7240710 20180130 OMIM 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0111183 familial hemiplegic migraine 3 ISO RGD:735777 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Migraine, familial hemiplegic, 3 PMID:11254444|PMID:11254445|PMID:11359211|PMID:11940708|PMID:12083760|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:14504318|PMID:14738421|PMID:15277634|PMID:16054936|PMID:16199547|PMID:16458823|PMID:17054684|PMID:17054685|PMID:17347258|PMID:17561957|PMID:17576681|PMID:18021921|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19332696|PMID:19359143|PMID:19522081|PMID:19563349|PMID:19585586|PMID:19589774|PMID:19809937|PMID:20431604|PMID:20522430|PMID:20600615|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21396429|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22150645|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:23195492|PMID:23398611|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23934111|PMID:24066114|PMID:24136861|PMID:24168886|PMID:24328833|PMID:24337656|PMID:24464349|PMID:24656210|PMID:24679980|PMID:25243660|PMID:25326635|PMID:25401298|PMID:25525159|PMID:25669891|PMID:25741868|PMID:25885068|PMID:25986186|PMID:26096185|PMID:26169758|PMID:26232052|PMID:26236192|PMID:26467025|PMID:26544041|PMID:26633542|PMID:26699486|PMID:26763045|PMID:26845707|PMID:26990884|PMID:27113213|PMID:27231140|PMID:27236449|PMID:27465585|PMID:27864847|PMID:28079314|PMID:28148630|PMID:28202706|PMID:28488083|PMID:28492532|PMID:28544625|PMID:28794249|PMID:29100083|PMID:29141279|PMID:29145747|PMID:29186148|PMID:29358611|PMID:29739726|PMID:29745119|PMID:29852413|PMID:30258939|PMID:30321769|PMID:30498473|PMID:30619928|PMID:30868114|PMID:31730442|PMID:31765958|PMID:31791873|PMID:31864146|PMID:31875159|PMID:32090326|PMID:32581362|PMID:34489640|PMID:9536098 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0111294 generalized epilepsy with febrile seizures plus 2 ISO RGD:735777 D RGD:7240710 20180130 OMIM 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0111294 generalized epilepsy with febrile seizures plus 2 ISO RGD:735777 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 2 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2 PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11756608|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12821740|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16326807|PMID:16458823|PMID:16505326|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17166794|PMID:17347258|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18566737|PMID:18804930|PMID:1893009|PMID:1893099|PMID:18930999|PMID:19236456|PMID:19359143|PMID:19522081|PMID:19563349|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19809937|PMID:20100831|PMID:20110217|PMID:20194124|PMID:20301494|PMID:20431604|PMID:20522430|PMID:20550552|PMID:20600615|PMID:20729507|PMID:20831750|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21713554|PMID:21719429|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24136861|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24464349|PMID:24656210|PMID:24679980|PMID:25243660|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25525159|PMID:25576396|PMID:25741868|PMID:25754450|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26467025|PMID:26544041|PMID:26699486|PMID:26845707|PMID:26990884|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27734276|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28079314|PMID:28084635|PMID:28148630|PMID:28150151|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28735751|PMID:28794249|PMID:29100083|PMID:29141279|PMID:29141311|PMID:29358611|PMID:29655203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:30034362|PMID:30142967|PMID:30321769|PMID:30525188|PMID:30619928|PMID:30659983|PMID:31031587|PMID:31164858|PMID:31755124|PMID:31765958|PMID:31782251|PMID:31791873|PMID:31864146|PMID:31875159|PMID:32056211|PMID:32090326|PMID:32238909|PMID:32581362|PMID:33391346|PMID:33895391|PMID:34489640|PMID:35082603|PMID:9126059|PMID:9536098 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0111295 generalized epilepsy with febrile seizures plus 7 ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28202706|PMID:28379373|PMID:28492532|PMID:29068549|PMID:30795902 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0111302 generalized epilepsy with febrile seizures plus 1 ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1 PMID:10521305|PMID:10742094|PMID:11254444|PMID:11254445|PMID:11524484|PMID:11567038|PMID:11756608|PMID:11823106|PMID:12086636|PMID:12566275|PMID:12576172|PMID:12919402|PMID:14672992|PMID:14702334|PMID:16075041|PMID:16525050|PMID:17507202|PMID:17561957|PMID:18076640|PMID:18413471|PMID:18804930|PMID:18930999|PMID:19464195|PMID:20117752|PMID:20522430|PMID:20550552|PMID:20600615|PMID:20729507|PMID:21719429|PMID:21864321|PMID:22525008|PMID:22780858|PMID:23195492|PMID:23945787|PMID:24277604|PMID:25348405|PMID:25576396|PMID:25741868|PMID:26096185|PMID:26990884|PMID:27066544|PMID:28084635|PMID:28192756|PMID:28202706|PMID:28492532|PMID:29141311|PMID:9126059 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0111307 familial febrile seizures 1 ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FEB1 PMID:28492532 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:1868258|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25576396|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26252084|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27652284|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28492532|PMID:28525652|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30558019|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31069529|PMID:31302675|PMID:31439038|PMID:31487502|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:9126059|PMID:9536098 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:15805193|PMID:16199547|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25576396|PMID:25590135|PMID:25741868|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26236192|PMID:26314341|PMID:26339958|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26699486|PMID:26763045|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28387369|PMID:28492532|PMID:28525652|PMID:28708303|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29145747|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29852413|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:31001185|PMID:31031587|PMID:31069529|PMID:31487502|PMID:31730442|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:33391346|PMID:9126059|PMID:9536098 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:15805193|PMID:15880351|PMID:16199547|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25576396|PMID:25590135|PMID:25741868|PMID:25754450|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26236192|PMID:26314341|PMID:26339958|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26680202|PMID:26699486|PMID:26763045|PMID:26845707|PMID:26934580|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28518218|PMID:28525652|PMID:28708303|PMID:28735751|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29145747|PMID:29186148|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:31001185|PMID:31031587|PMID:31069529|PMID:31487502|PMID:31730442|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:33391346|PMID:9126059|PMID:9536098 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11756608|PMID:11823106|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15133511|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:15880351|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18251839|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18566737|PMID:18621678|PMID:18632234|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19220312|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20301562|PMID:20307669|PMID:20358599|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21488303|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22028529|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22525008|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22944210|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23032131|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23485646|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25108116|PMID:25206388|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25569746|PMID:25576396|PMID:25590135|PMID:25640679|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25795284|PMID:25818041|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26236192|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26680202|PMID:26699486|PMID:26716362|PMID:26763045|PMID:26845707|PMID:26863999|PMID:26934580|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27458797|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27652284|PMID:27734276|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28379373|PMID:28387369|PMID:28469861|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28518218|PMID:28525652|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28735751|PMID:28794249|PMID:28837158|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:29095814|PMID:29100083|PMID:29141279|PMID:29141311|PMID:29142202|PMID:29145747|PMID:29186148|PMID:29188601|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29573403|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:29930392|PMID:29948376|PMID:30011152|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30558019|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30795902|PMID:30805006|PMID:30868114|PMID:30945278|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31031587|PMID:31069529|PMID:31164858|PMID:31175295|PMID:31273778|PMID:31302675|PMID:31439038|PMID:31487502|PMID:31618753|PMID:31677916|PMID:31720899|PMID:31730442|PMID:31755124|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:31875159|PMID:31880072|PMID:32056211|PMID:32090326|PMID:32238909|PMID:32276107|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:32613771|PMID:32702657|PMID:33278787|PMID:33391346|PMID:33674996|PMID:33895391|PMID:34015165|PMID:34055682|PMID:34338318|PMID:34379890|PMID:34489640|PMID:34539730|PMID:9126059|PMID:9536098|PMID:9573403 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:1059 intellectual disability ISO RGD:735777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: intellectual disabilities PMID:11254445|PMID:11359211|PMID:12610651|PMID:12821740|PMID:14738421|PMID:17054684|PMID:17347258|PMID:17561957|PMID:18930999|PMID:19200853|PMID:19522081|PMID:19585586|PMID:20879882|PMID:21868258|PMID:22150645|PMID:22612257|PMID:22848613|PMID:23195492|PMID:23934111|PMID:24168886|PMID:25741868|PMID:26096185|PMID:26990884|PMID:28084635|PMID:28492532|PMID:29100083|PMID:29358611|PMID:29655203|PMID:29948376|PMID:32538476 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:10907 microcephaly ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:14672992|PMID:17347258|PMID:25741868|PMID:28492532|PMID:32581362 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:12712 nephronophthisis ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:12849 autistic disorder ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:11254445|PMID:12566275|PMID:12610651|PMID:14672992|PMID:16199547|PMID:17347258|PMID:18930999|PMID:19200853|PMID:19522081|PMID:20522430|PMID:22071555|PMID:22409937|PMID:23195492|PMID:23934111|PMID:25741868|PMID:26990884|PMID:28148630|PMID:28492532|PMID:29358611|PMID:32581362 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial neonatal seizures PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:1826 epilepsy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure Disorders PMID:11254444|PMID:11254445|PMID:12083760|PMID:12566275|PMID:12610651|PMID:14504318|PMID:14738421|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16525050|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17166794|PMID:17347258|PMID:17561957|PMID:18021921|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19522081|PMID:19585586|PMID:19589774|PMID:20431604|PMID:20522430|PMID:20550552|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21713554|PMID:21864321|PMID:21868258|PMID:22011963|PMID:22071555|PMID:22409937|PMID:22550089|PMID:22780858|PMID:22848613|PMID:23195492|PMID:23398611|PMID:23808377|PMID:23895530|PMID:23934111|PMID:24168886|PMID:24277604|PMID:24337656|PMID:24464349|PMID:24656210|PMID:24679980|PMID:25401298|PMID:25576396|PMID:25741868|PMID:26096185|PMID:26232052|PMID:26467025|PMID:26845707|PMID:26990884|PMID:27236449|PMID:27465585|PMID:27781031|PMID:28012175|PMID:28084635|PMID:28148630|PMID:28150151|PMID:28492532|PMID:28794249|PMID:29141311|PMID:29186148|PMID:29358611|PMID:29852413|PMID:30735520|PMID:31302675|PMID:31765958|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32090326|PMID:32581362 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:2234 focal epilepsy ISO RGD:735777 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Focal epilepsy | ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness | ClinVar Annotator: match by term: Focal-onset seizure PMID:12566275|PMID:14672992|PMID:16199547|PMID:17347258|PMID:17903680|PMID:18930999|PMID:19585586|PMID:19586930|PMID:20522430|PMID:21248271|PMID:22071555|PMID:22156295|PMID:22409937|PMID:23527921|PMID:23917401|PMID:23934111|PMID:24328833|PMID:25741868|PMID:26188943|PMID:26467025|PMID:27465585|PMID:27781031|PMID:28148630|PMID:28492532|PMID:32238909|PMID:32581362 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:308 early myoclonic encephalopathy ISO RGD:735777 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16458823|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19350499|PMID:19359143|PMID:19522081|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19782004|PMID:19809937|PMID:20110217|PMID:20117752|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21425109|PMID:21555645|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:23195492|PMID:23398611|PMID:23527921|PMID:23662938|PMID:23762420|PMID:23808377|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24328833|PMID:24502503|PMID:24656210|PMID:24679980|PMID:25243660|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25459968|PMID:25525159|PMID:25590135|PMID:25741868|PMID:25885068|PMID:25986186|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26467025|PMID:26544041|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28079314|PMID:28084635|PMID:28148630|PMID:28150151|PMID:28192756|PMID:28202706|PMID:28488083|PMID:28492532|PMID:28708303|PMID:28794249|PMID:29056246|PMID:29100083|PMID:29141279|PMID:29358611|PMID:29460957|PMID:29655203|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:30182498|PMID:30311386|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30868114|PMID:31031587|PMID:31765958|PMID:31780880|PMID:31791873|PMID:31864146|PMID:32238909|PMID:32538476|PMID:32573669|PMID:32581362|PMID:9536098 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:308 early myoclonic encephalopathy ISO RGD:735777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19350499|PMID:19359143|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19782004|PMID:19809937|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21425109|PMID:21555645|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:22944210|PMID:23086956|PMID:23195492|PMID:23398611|PMID:23527921|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24328833|PMID:24502503|PMID:24656210|PMID:24679980|PMID:25206388|PMID:25243660|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25459968|PMID:25459969|PMID:25525159|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25986186|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26467025|PMID:26544041|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:29056246|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:29948376|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30311386|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30868114|PMID:30945278|PMID:31001185|PMID:31031587|PMID:31069529|PMID:31164858|PMID:31765958|PMID:31780880|PMID:31791873|PMID:31864146|PMID:31875159|PMID:32056211|PMID:32238909|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32702657|PMID:33278787|PMID:33674996|PMID:34015165|PMID:34379890|PMID:34489640|PMID:34539730|PMID:9536098|PMID:9573403 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:308 early myoclonic encephalopathy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18566737|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19350499|PMID:19359143|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19782004|PMID:19809937|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21425109|PMID:21555645|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:22944210|PMID:23086956|PMID:23195492|PMID:23398611|PMID:23527921|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24328833|PMID:24502503|PMID:24656210|PMID:24679980|PMID:25206388|PMID:25243660|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25459968|PMID:25459969|PMID:25525159|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25986186|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26467025|PMID:26544041|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:29056246|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:29948376|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30311386|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30868114|PMID:30945278|PMID:31001185|PMID:31031587|PMID:31069529|PMID:31164858|PMID:31765958|PMID:31780880|PMID:31791873|PMID:31864146|PMID:31875159|PMID:32056211|PMID:32238909|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32702657|PMID:33278787|PMID:33674996|PMID:34015165|PMID:34379890|PMID:34489640|PMID:34539730|PMID:9536098|PMID:9573403 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:735777 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:11254445|PMID:12610651|PMID:18021921|PMID:19200853|PMID:19522081|PMID:21396429|PMID:22550089|PMID:22780858|PMID:23195492|PMID:23398611|PMID:24679980|PMID:25741868|PMID:26990884|PMID:28492532|PMID:29358611|PMID:31765958 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:480 movement disease ISO RGD:735777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12907273 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:630 genetic disease ISO RGD:735777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10521305|PMID:10742094|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12821740|PMID:14504318|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15277629|PMID:15508916|PMID:15880351|PMID:16199547|PMID:16458823|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17166794|PMID:17347258|PMID:17537961|PMID:17576681|PMID:18021921|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19522081|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19782004|PMID:20196795|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21713554|PMID:21719429|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22150645|PMID:22151702|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23762420|PMID:23808377|PMID:23884151|PMID:23934111|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24679980|PMID:24848745|PMID:25459968|PMID:25525159|PMID:25741868|PMID:25754450|PMID:25795284|PMID:26096185|PMID:26232052|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26633542|PMID:26680202|PMID:26699486|PMID:26845707|PMID:26934580|PMID:26990884|PMID:27029629|PMID:27231140|PMID:27236449|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28079314|PMID:28150151|PMID:28183995|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28518218|PMID:28735751|PMID:28842445|PMID:28951233|PMID:29100083|PMID:29141279|PMID:29186148|PMID:29358611|PMID:29408779|PMID:29429461|PMID:29601086|PMID:29655203|PMID:29739726|PMID:29745119|PMID:29852413|PMID:29948376|PMID:30182498|PMID:31009440|PMID:31164858|PMID:31302675|PMID:31765958|PMID:31864146|PMID:32056211|PMID:32461654|PMID:33391346|PMID:9536098 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:735777 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:11254445|PMID:18021921|PMID:21396429|PMID:22550089|PMID:22780858|PMID:23398611|PMID:24679980|PMID:25741868|PMID:26990884|PMID:28492532|PMID:29358611|PMID:31765958 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9000343 Vision Disorders ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:18930999|PMID:19563458|PMID:20452746|PMID:22848613|PMID:25741868|PMID:28492532 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9001716 Hip Contracture ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hip contracture PMID:17561957|PMID:30311386 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized epilepsy PMID:11359211|PMID:14504318|PMID:17054684|PMID:17347258|PMID:18930999|PMID:19563458|PMID:20452746|PMID:21719429|PMID:22848613|PMID:25741868|PMID:26096185|PMID:26993267|PMID:28492532|PMID:32581362 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9002914 Familial Sudden Death ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death in childhood PMID:25741868 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9003133 Hypertelorism ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:19763161|PMID:25741868|PMID:28492532 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: myoclonic epilepsy PMID:28492532 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:18930999|PMID:19563458|PMID:20452746|PMID:22848613|PMID:25741868|PMID:28492532 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9005687 Autosomal Dominant Intellectual Developmental Disorder 64 ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 64 PMID:25741868|PMID:28492532 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9006534 Nervous System Malformations ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28492532 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9006942 Familial Febrile Seizures 3A ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial, 3a PMID:15805193|PMID:16326807|PMID:17001291|PMID:17436242|PMID:19289736|PMID:19949041|PMID:22188362|PMID:22292851|PMID:22591328|PMID:22992668|PMID:26314341|PMID:26555147|PMID:28492532 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9007 sudden infant death syndrome ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868|PMID:28492532|PMID:29601086 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9007956 Febrile Seizures ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Febrile seizures 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9007956 Febrile Seizures susceptibility ISO RGD:69364 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.E539A,p.N1417H(rat) PMID:20410126|REF_RGD_ID:12792282 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9008086 Developmental Disabilities ISO RGD:735777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:12566275|PMID:16199547|PMID:17347258|PMID:18930999|PMID:19563458|PMID:20452746|PMID:20522430|PMID:22071555|PMID:22409937|PMID:22848613|PMID:23895530|PMID:23934111|PMID:24656210|PMID:25401298|PMID:25741868|PMID:28012175|PMID:28148630|PMID:28492532|PMID:28794249|PMID:31791873|PMID:32581362 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9008265 Developmental and Epileptic Encephalopathy 6B ISO RGD:735777 D RGD:7240710 20210526 OMIM 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9008265 Developmental and Epileptic Encephalopathy 6B ISO RGD:735777 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 6B | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 6B, non-Dravet PMID:11940708|PMID:12083760|PMID:12566275|PMID:12821740|PMID:16199547|PMID:17054684|PMID:17347258|PMID:17561957|PMID:17576681|PMID:18804930|PMID:18930999|PMID:19350499|PMID:19563349|PMID:19585586|PMID:19589774|PMID:20431604|PMID:20522430|PMID:21248271|PMID:21868258|PMID:21906962|PMID:22071555|PMID:22092154|PMID:22409937|PMID:22848613|PMID:23195492|PMID:23708187|PMID:23821540|PMID:23895530|PMID:23934111|PMID:24656210|PMID:24776920|PMID:25401298|PMID:25525159|PMID:25741868|PMID:26096185|PMID:26467025|PMID:26544041|PMID:26990884|PMID:26993267|PMID:27465585|PMID:28148630|PMID:28202706|PMID:28492532|PMID:28794249|PMID:29056246|PMID:29745119|PMID:29852413|PMID:30034362|PMID:30321769|PMID:30619928|PMID:31791873|PMID:32581362|PMID:9536098 12355482 SCN1A sodium voltage-gated channel alpha subunit 1 gene DOID:9009021 Plagiocephaly ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Plagiocephaly PMID:18930999|PMID:19563458|PMID:20452746|PMID:22848613|PMID:25741868|PMID:28492532 12355527 LOC479821 acyl-coenzyme A synthetase ACSM4, mitochondrial gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1642901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12355527 LOC479821 acyl-coenzyme A synthetase ACSM4, mitochondrial gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1642901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12355527 LOC479821 acyl-coenzyme A synthetase ACSM4, mitochondrial gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1642901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12355527 LOC479821 acyl-coenzyme A synthetase ACSM4, mitochondrial gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1642901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12355527 LOC479821 acyl-coenzyme A synthetase ACSM4, mitochondrial gene DOID:0111621 Temtamy syndrome ISO RGD:1642901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12355527 LOC479821 acyl-coenzyme A synthetase ACSM4, mitochondrial gene DOID:630 genetic disease ISO RGD:1642901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12355527 LOC479821 acyl-coenzyme A synthetase ACSM4, mitochondrial gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1642901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12355544 CEP170 centrosomal protein 170 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1605104 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12355544 CEP170 centrosomal protein 170 gene DOID:1540 parathyroid carcinoma ISO RGD:1605104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12355544 CEP170 centrosomal protein 170 gene DOID:630 genetic disease ISO RGD:1605104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12355544 CEP170 centrosomal protein 170 gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:1605104 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 PMID:25087610 12355544 CEP170 centrosomal protein 170 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1605104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:20835237|PMID:22190896|PMID:28492532 12355544 CEP170 centrosomal protein 170 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12355544 CEP170 centrosomal protein 170 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12355590 SLC26A5 solute carrier family 26 member 5 gene DOID:0060902 Norman-Roberts syndrome ISO RGD:1603482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:10973257|PMID:17124408|PMID:26046367|PMID:28454995|PMID:28492532 12355590 SLC26A5 solute carrier family 26 member 5 gene DOID:0110513 autosomal recessive nonsyndromic deafness 61 ISO RGD:1603482 D RGD:7240710 20180130 OMIM 12355590 SLC26A5 solute carrier family 26 member 5 gene DOID:0110513 autosomal recessive nonsyndromic deafness 61 ISO RGD:1603482 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 61 PMID:12719379|PMID:16086836|PMID:24033266|PMID:24164807|PMID:25262649|PMID:25741868|PMID:26467025|PMID:28492532 12355590 SLC26A5 solute carrier family 26 member 5 gene DOID:10003 sensorineural hearing loss ISO RGD:1621439 D RGD:9068941 20200609 RGD mRNA:decreased expression:organ of Corti (mouse) PMID:19363478|REF_RGD_ID:9585667 12355590 SLC26A5 solute carrier family 26 member 5 gene DOID:1459 hypothyroidism ISO RGD:1621439 D RGD:9068941 20200609 RGD Secondary Hypothyroidism;protein:altered expression:cochlear outer hair cell (mouse) PMID:19176829|REF_RGD_ID:9585687 12355590 SLC26A5 solute carrier family 26 member 5 gene DOID:1459 hypothyroidism ISO RGD:69334 D RGD:9068941 20200609 RGD protein:altered expression:cochlear outer hair cell (rat) PMID:17520268|REF_RGD_ID:9585686 12355590 SLC26A5 solute carrier family 26 member 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12355590 SLC26A5 solute carrier family 26 member 5 gene DOID:630 genetic disease ISO RGD:1603482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12355590 SLC26A5 solute carrier family 26 member 5 gene DOID:9000307 Presbycusis ISO RGD:69334 D RGD:9068941 20200609 RGD protein:altered expression:cochlear outer hair cell (rat) PMID:19111601|REF_RGD_ID:9585690 12355590 SLC26A5 solute carrier family 26 member 5 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1621439 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cochlea (mouse) PMID:24376553|REF_RGD_ID:9585684 12355590 SLC26A5 solute carrier family 26 member 5 gene DOID:9004538 Hearing Loss ISO RGD:1603482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:30311386 12355590 SLC26A5 solute carrier family 26 member 5 gene DOID:9004538 Hearing Loss no_association ISO RGD:1603482 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS2-2A>G (human) PMID:16086836|REF_RGD_ID:9479051 12355590 SLC26A5 solute carrier family 26 member 5 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1603482 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS2-2A>G (human) PMID:23554706|REF_RGD_ID:7364803 12355590 SLC26A5 solute carrier family 26 member 5 gene DOID:9008681 Deafness ISO RGD:1603482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12719379 12355615 CANT1 calcium activated nucleotidase 1 gene DOID:0060462 Desbuquois dysplasia ISO RGD:1348972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desbuquois syndrome 12355615 CANT1 calcium activated nucleotidase 1 gene DOID:0070302 multiple epiphyseal dysplasia 7 ISO RGD:1348972 D RGD:7240710 20190315 OMIM 12355615 CANT1 calcium activated nucleotidase 1 gene DOID:0070302 multiple epiphyseal dysplasia 7 ISO RGD:1348972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 7 PMID:20358597|PMID:21037275|PMID:21412251|PMID:25741868|PMID:28492532|PMID:28742282 12355615 CANT1 calcium activated nucleotidase 1 gene DOID:12721 multiple epiphyseal dysplasia ISO RGD:1348972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia PMID:28492532|PMID:28742282 12355615 CANT1 calcium activated nucleotidase 1 gene DOID:2256 osteochondrodysplasia ISO RGD:1348972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia PMID:28492532|PMID:28742282 12355615 CANT1 calcium activated nucleotidase 1 gene DOID:630 genetic disease ISO RGD:1348972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19853239|PMID:21037275|PMID:21654728|PMID:22539336|PMID:28492532 12355615 CANT1 calcium activated nucleotidase 1 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:1348972 D RGD:7240710 20190327 OMIM 12355615 CANT1 calcium activated nucleotidase 1 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:1348972 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:17576681|PMID:19853239|PMID:20358597|PMID:20358610|PMID:21037275|PMID:21412251|PMID:21654728|PMID:22539336|PMID:25741868|PMID:28492532|PMID:28742282|PMID:31988067|PMID:32907608|PMID:34270679|PMID:9536098 12355615 CANT1 calcium activated nucleotidase 1 gene DOID:9007661 Dwarfism ISO RGD:1348972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12355615 CANT1 calcium activated nucleotidase 1 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1348972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 12355637 VRK3 VRK serine/threonine kinase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1558006 D RGD:9068941 20220825 MouseDO 12355637 VRK3 VRK serine/threonine kinase 3 gene DOID:630 genetic disease ISO RGD:1350616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12355666 LOC484933 zinc finger protein 791 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1605566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12355666 LOC484933 zinc finger protein 791 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1605566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12355666 LOC484933 zinc finger protein 791 gene DOID:0111254 glutaric acidemia I ISO RGD:1605566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12355666 LOC484933 zinc finger protein 791 gene DOID:3413 alpha-mannosidosis ISO RGD:1605566 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12355666 LOC484933 zinc finger protein 791 gene DOID:630 genetic disease ISO RGD:1605566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12355674 YARS2 tyrosyl-tRNA synthetase 2 gene DOID:0070347 encephalopathy due to defective mitochondrial and peroxisomal fission 1 ISO RGD:1606290 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 PMID:25741868 12355674 YARS2 tyrosyl-tRNA synthetase 2 gene DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia ISO RGD:1606290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia PMID:25741868|PMID:28492532 12355674 YARS2 tyrosyl-tRNA synthetase 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1606290 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:27066507|PMID:28492532 12355674 YARS2 tyrosyl-tRNA synthetase 2 gene DOID:0111186 myopathy, lactic acidosis, and sideroblastic anemia 2 ISO RGD:1606290 D RGD:7240710 20190320 OMIM 12355674 YARS2 tyrosyl-tRNA synthetase 2 gene DOID:0111186 myopathy, lactic acidosis, and sideroblastic anemia 2 ISO RGD:1606290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 PMID:12075011|PMID:20598274|PMID:22504945|PMID:23918765|PMID:24088041|PMID:24344687|PMID:24430573|PMID:25638461|PMID:25741868|PMID:26633545|PMID:26944241|PMID:28492532|PMID:30026338|PMID:33144682 12355674 YARS2 tyrosyl-tRNA synthetase 2 gene DOID:0111438 optic atrophy 5 ISO RGD:1606290 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Optic atrophy 5 PMID:25741868 12355674 YARS2 tyrosyl-tRNA synthetase 2 gene DOID:630 genetic disease ISO RGD:1606290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12355674 YARS2 tyrosyl-tRNA synthetase 2 gene DOID:700 mitochondrial metabolism disease ISO RGD:1606290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:28812649 12355683 ATOSA atos homolog A gene DOID:2717 Bloom syndrome ISO RGD:1606264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12355683 ATOSA atos homolog A gene DOID:607 paraplegia ISO RGD:1606264 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 12355683 ATOSA atos homolog A gene DOID:630 genetic disease ISO RGD:1606264 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12355683 ATOSA atos homolog A gene DOID:9256 colorectal cancer ISO RGD:1606264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12355715 SLC7A14 solute carrier family 7 member 14 gene DOID:0110374 retinitis pigmentosa 68 ISO RGD:1605648 D RGD:7240710 20180130 OMIM 12355715 SLC7A14 solute carrier family 7 member 14 gene DOID:0110374 retinitis pigmentosa 68 ISO RGD:1605648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 68 PMID:24670872|PMID:25741868|PMID:28492532|PMID:32036094 12355715 SLC7A14 solute carrier family 7 member 14 gene DOID:10003 sensorineural hearing loss ISO RGD:1622922 D RGD:9068941 20220825 MouseDO 12355715 SLC7A14 solute carrier family 7 member 14 gene DOID:1062 Fanconi syndrome ISO RGD:1605648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 12355715 SLC7A14 solute carrier family 7 member 14 gene DOID:1432 blindness ISO RGD:1622922 D RGD:9068941 20220825 MouseDO 12355715 SLC7A14 solute carrier family 7 member 14 gene DOID:630 genetic disease ISO RGD:1605648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32036094 12355715 SLC7A14 solute carrier family 7 member 14 gene DOID:8501 fundus dystrophy ISO RGD:1605648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 12355727 DSP desmoplakin gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 12355727 DSP desmoplakin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1314043 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Right ventricular cardiomyopathy PMID:10395892|PMID:10594734|PMID:11063735|PMID:15941723|PMID:16199547|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19358943|PMID:19558499|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20716751|PMID:20738328|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22240500|PMID:22555271|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23514727|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25157032|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25525159|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25691752|PMID:25693453|PMID:25741868|PMID:26230511|PMID:26332594|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26850880|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27435932|PMID:27532257|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28416588|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29062697|PMID:29253866|PMID:29892087|PMID:29915098|PMID:30354334|PMID:30398466|PMID:30775854|PMID:30847666|PMID:31110529|PMID:31264976|PMID:31317183|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31727422|PMID:31737537|PMID:31785789|PMID:32277046|PMID:32372669|PMID:33087929|PMID:33313835|PMID:33652588|PMID:34290054|PMID:34352074|PMID:35083019|PMID:9536098 12355727 DSP desmoplakin gene DOID:0050451 Brugada syndrome ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20031617|PMID:20152563|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12355727 DSP desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16061754|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22555271|PMID:22949226|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27329731|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28611029|PMID:28759816|PMID:28798025|PMID:28912206|PMID:29253866|PMID:29420653|PMID:29511324|PMID:29750433|PMID:29759408|PMID:29802319|PMID:30012837|PMID:30165862|PMID:30354334|PMID:30382575|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30975432|PMID:31118017|PMID:31264976|PMID:31319917|PMID:31333075|PMID:31402444|PMID:31568572|PMID:31737537|PMID:31983221|PMID:33232181|PMID:34213952|PMID:9536098 12355727 DSP desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22555271|PMID:22949226|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27329731|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28442525|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28611029|PMID:28759816|PMID:28798025|PMID:28912206|PMID:29253866|PMID:29420653|PMID:29511324|PMID:29750433|PMID:29759408|PMID:29802319|PMID:30012837|PMID:30165862|PMID:30354334|PMID:30382575|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31118017|PMID:31264976|PMID:31333075|PMID:31402444|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32372669|PMID:32746448|PMID:32880476|PMID:32942234|PMID:33232181|PMID:34213952|PMID:9536098 12355727 DSP desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22555271|PMID:22949226|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27329731|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28442525|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28611029|PMID:28759816|PMID:28798025|PMID:28912206|PMID:29253866|PMID:29420653|PMID:29511324|PMID:29750433|PMID:29759408|PMID:29802319|PMID:30012837|PMID:30165862|PMID:30206291|PMID:30354334|PMID:30382575|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31118017|PMID:31264976|PMID:31333075|PMID:31402444|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32372669|PMID:32746448|PMID:32880476|PMID:32942234|PMID:33232181|PMID:34213952|PMID:9536098 12355727 DSP desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22555271|PMID:22949226|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27329731|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28442525|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28611029|PMID:28759816|PMID:28798025|PMID:28912206|PMID:29178656|PMID:29253866|PMID:29420653|PMID:29511324|PMID:29607617|PMID:29750433|PMID:29759408|PMID:29802319|PMID:30012837|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31118017|PMID:31264976|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32746448|PMID:32880476|PMID:32942234|PMID:33232181|PMID:34137518|PMID:34213952|PMID:34290054|PMID:9536098 12355727 DSP desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22949226|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25856671|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29420653|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29915098|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31737537|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32600061|PMID:32746448|PMID:32879264|PMID:32880476|PMID:32942234|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33652588|PMID:33857019|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:35083019|PMID:35087879|PMID:9536098 12355727 DSP desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10395892|PMID:11063735|PMID:11841538|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21270786|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25856671|PMID:25974703|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29420653|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29878302|PMID:29915098|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31737537|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32600061|PMID:32879264|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:35083019|PMID:35087879|PMID:9536098 12355727 DSP desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10395892|PMID:11063735|PMID:11841538|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25856671|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29878302|PMID:29915098|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31638835|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32600061|PMID:32879264|PMID:32880476|PMID:32942234|PMID:33082984|PMID:33087929|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:34486814|PMID:35083019|PMID:35087879|PMID:35581137|PMID:9536098 12355727 DSP desmoplakin gene DOID:0060319 cardiac arrest ISO RGD:1314043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:20716751|PMID:21606390|PMID:22240500|PMID:24503780|PMID:25227139|PMID:25525159|PMID:25741868|PMID:28492532|PMID:33313835 12355727 DSP desmoplakin gene DOID:0060480 left ventricular noncompaction ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:25741868|PMID:28492532 12355727 DSP desmoplakin gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:28492532|PMID:33552729 12355727 DSP desmoplakin gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532|PMID:33552729 12355727 DSP desmoplakin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25225338|PMID:25351510|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:30847666|PMID:31264976|PMID:31402444 12355727 DSP desmoplakin gene DOID:0081109 keratosis palmoplantaris striata 2 ISO RGD:1314043 D RGD:7240710 20180130 OMIM 12355727 DSP desmoplakin gene DOID:0081109 keratosis palmoplantaris striata 2 ISO RGD:1314043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata 2 | ClinVar Annotator: match by term: Keratosis palmoplantaris striata II | ClinVar Annotator: match by term: STRIATE PALMOPLANTAR KERATODERMA II PMID:10594734|PMID:15941723|PMID:16175511|PMID:16199547|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19863551|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20716751|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22454510|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23651034|PMID:23671136|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25637381|PMID:25691752|PMID:25741868|PMID:25819062|PMID:25825460|PMID:25979592|PMID:26138720|PMID:26187847|PMID:26220970|PMID:26272908|PMID:26332594|PMID:26399581|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26743238|PMID:26833927|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28255936|PMID:28416588|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29095814|PMID:29192238|PMID:29247119|PMID:29607617|PMID:29633331|PMID:29802319|PMID:29915098|PMID:30165862|PMID:30276209|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30847666|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31378211|PMID:31402444|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32600061|PMID:32746448|PMID:32879264|PMID:32880476|PMID:32931854|PMID:33082984|PMID:33232181|PMID:33500567|PMID:33652588|PMID:34290054|PMID:34317553|PMID:34352074|PMID:35087879|PMID:9536098|PMID:9887343 12355727 DSP desmoplakin gene DOID:0090128 Carvajal syndrome ISO RGD:1314043 D RGD:7240710 20180130 OMIM 12355727 DSP desmoplakin gene DOID:0090128 Carvajal syndrome ISO RGD:1314043 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma | ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair PMID:10594734|PMID:11063735|PMID:11278896|PMID:11841538|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16061754|PMID:16175511|PMID:16199547|PMID:16467215|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19763152|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20307669|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20613772|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20940358|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22406018|PMID:22454510|PMID:22555271|PMID:22795705|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24784157|PMID:24825141|PMID:24938629|PMID:24967631|PMID:24981977|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25403600|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25825460|PMID:25856671|PMID:25979592|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26148547|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26303123|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26735901|PMID:26743238|PMID:26833927|PMID:26850880|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27353043|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27831900|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28152038|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28600387|PMID:28611029|PMID:28750076|PMID:28759816|PMID:28767663|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29062697|PMID:29095814|PMID:29178656|PMID:29181379|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29517769|PMID:29590070|PMID:29606362|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29878302|PMID:29892087|PMID:29915097|PMID:29915098|PMID:29956481|PMID:29997227|PMID:30012837|PMID:30086531|PMID:30133754|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30345701|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30453078|PMID:30615648|PMID:30670673|PMID:30700137|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30919684|PMID:30944905|PMID:30975432|PMID:30993396|PMID:31110529|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31727422|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32005173|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32546831|PMID:32593191|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32808748|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33684294|PMID:33762593|PMID:33857019|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34486814|PMID:35083019|PMID:35087879|PMID:35581137|PMID:8769422 12355727 DSP desmoplakin gene DOID:0090128 Carvajal syndrome ISO RGD:1314043 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma | ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair PMID:9229116|PMID:9536098|PMID:9887343 12355727 DSP desmoplakin gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:21723241|PMID:24070718|PMID:25741868|PMID:26138720|PMID:28492532 12355727 DSP desmoplakin gene DOID:0110076 arrhythmogenic right ventricular dysplasia 8 ISO RGD:1314043 D RGD:7240710 20180130 OMIM 12355727 DSP desmoplakin gene DOID:0110076 arrhythmogenic right ventricular dysplasia 8 ISO RGD:1314043 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:10395892|PMID:10594734|PMID:11063735|PMID:11278896|PMID:11841538|PMID:12373648|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16061754|PMID:16175511|PMID:16199547|PMID:16467215|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19763152|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20307669|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20613772|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20940358|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22406018|PMID:22454510|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24784157|PMID:24825141|PMID:24938629|PMID:24967631|PMID:24981977|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25403600|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25741904|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25825460|PMID:25856671|PMID:25979592|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26148547|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26303123|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26735901|PMID:26743238|PMID:26833927|PMID:26850880|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27353043|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27831900|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28152038|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28600387|PMID:28611029|PMID:28750076|PMID:28759816|PMID:28767663|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29062697|PMID:29095814|PMID:29178656|PMID:29181379|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29517769|PMID:29590070|PMID:29606362|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29878302|PMID:29892087|PMID:29915097|PMID:29915098|PMID:29956481|PMID:29997227|PMID:30012837|PMID:30086531|PMID:30133754|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30286183|PMID:30345701|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30453078|PMID:30615648|PMID:30670673|PMID:30700137|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30919684|PMID:30944905|PMID:30975432|PMID:30993396|PMID:31028357|PMID:31110529|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31727422|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32005173|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32546831|PMID:32593191|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32808748|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33082984|PMID:33087929|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33684294|PMID:33762593|PMID:33857019|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:34352074 12355727 DSP desmoplakin gene DOID:0110076 arrhythmogenic right ventricular dysplasia 8 ISO RGD:1314043 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:34486814|PMID:35083019|PMID:35087879|PMID:35581137|PMID:8769422|PMID:9229116|PMID:9536098|PMID:9887343 12355727 DSP desmoplakin gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1314043 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:25820315|PMID:28492532|PMID:30345701|PMID:30700137 12355727 DSP desmoplakin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25225338|PMID:25351510|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:31264976 12355727 DSP desmoplakin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314043 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25225338|PMID:25351510|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:31264976|PMID:31402444 12355727 DSP desmoplakin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25225338|PMID:25351510|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:30847666|PMID:31264976|PMID:31402444 12355727 DSP desmoplakin gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1314043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:20716751|PMID:23292937|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25741868|PMID:26084686|PMID:26265630|PMID:28166811|PMID:28492532|PMID:29633331|PMID:30615648|PMID:30775854 12355727 DSP desmoplakin gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1314043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:20716751|PMID:23292937|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25741868|PMID:26084686|PMID:26265630|PMID:28166811|PMID:28492532|PMID:29633331|PMID:30615648|PMID:30775854 12355727 DSP desmoplakin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:15941723|PMID:20152563|PMID:20716751|PMID:21606396|PMID:21636032|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:25227139|PMID:25637381|PMID:25661095|PMID:25741868|PMID:26138720|PMID:26265630|PMID:27532257|PMID:28492532|PMID:30775854|PMID:32808748 12355727 DSP desmoplakin gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:25741868|PMID:28492532|PMID:29253866 12355727 DSP desmoplakin gene DOID:0110644 long QT syndrome 1 ISO RGD:1314043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:19095136|PMID:19279339|PMID:20716751|PMID:21606390|PMID:21606396|PMID:21723241|PMID:24070718|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25741868|PMID:25820315|PMID:28492532|PMID:28527814|PMID:30382575 12355727 DSP desmoplakin gene DOID:0111073 progressive familial heart block ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive familial heart block PMID:25741868 12355727 DSP desmoplakin gene DOID:10969 hemiplegia ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemiplegia PMID:21606396|PMID:23292937|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26230511|PMID:26656175|PMID:27153395|PMID:28492532 12355727 DSP desmoplakin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:18632414|PMID:19863551|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21859740|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24503780|PMID:25741868|PMID:28492532|PMID:29255176 12355727 DSP desmoplakin gene DOID:12930 dilated cardiomyopathy ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10594734|PMID:11063735|PMID:16061754|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26230511|PMID:26399581|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28416588|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28759816|PMID:30012837|PMID:30820396|PMID:30993396|PMID:31333075|PMID:31402444|PMID:31447099|PMID:31568572|PMID:9536098 12355727 DSP desmoplakin gene DOID:12930 dilated cardiomyopathy ISO RGD:1314043 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10594734|PMID:11063735|PMID:16061754|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26230511|PMID:26399581|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28416588|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28759816|PMID:30012837|PMID:30820396|PMID:30993396|PMID:31333075|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:9536098 12355727 DSP desmoplakin gene DOID:12930 dilated cardiomyopathy ISO RGD:1314043 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26230511|PMID:26399581|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28759816|PMID:30012837|PMID:30820396|PMID:30993396|PMID:31333075|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31983221|PMID:32942234|PMID:9536098 12355727 DSP desmoplakin gene DOID:12930 dilated cardiomyopathy ISO RGD:1314043 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26230511|PMID:26399581|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28759816|PMID:30012837|PMID:30398466|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31333075|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32942234|PMID:34137518|PMID:34290054|PMID:9536098 12355727 DSP desmoplakin gene DOID:12930 dilated cardiomyopathy ISO RGD:1314043 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26084686|PMID:26230511|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:29633331|PMID:29915098|PMID:30012837|PMID:30398466|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32659924|PMID:33762593|PMID:34137518|PMID:34290054|PMID:34317553|PMID:9536098 12355727 DSP desmoplakin gene DOID:12930 dilated cardiomyopathy ISO RGD:1314043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26084686|PMID:26230511|PMID:26265630|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29633331|PMID:29915098|PMID:30012837|PMID:30398466|PMID:30615648|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32942234|PMID:33087929|PMID:33762593|PMID:34137518|PMID:34290054|PMID:34317553|PMID:35581137|PMID:9536098 12355727 DSP desmoplakin gene DOID:2843 long QT syndrome ISO RGD:1314043 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:16467215|PMID:16774985|PMID:17576681|PMID:18382419|PMID:19863551|PMID:20716751|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21723241|PMID:21859740|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25741868|PMID:27097650|PMID:28074886|PMID:28416588|PMID:28492532|PMID:28759816|PMID:30993396|PMID:9536098 12355727 DSP desmoplakin gene DOID:2843 long QT syndrome ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16467215|PMID:16774985|PMID:17576681|PMID:18382419|PMID:19863551|PMID:20716751|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21723241|PMID:21859740|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25741868|PMID:27097650|PMID:28074886|PMID:28416588|PMID:28492532|PMID:28759816|PMID:30398466|PMID:30847666|PMID:30993396|PMID:31402444|PMID:31514951|PMID:31737537|PMID:32277046|PMID:32372669|PMID:34290054|PMID:9536098 12355727 DSP desmoplakin gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease 12355727 DSP desmoplakin gene DOID:3770 pulmonary fibrosis ISO RGD:1314043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28166215 12355727 DSP desmoplakin gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532 12355727 DSP desmoplakin gene DOID:397 restrictive cardiomyopathy ISO RGD:1314043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:11063735|PMID:16628197|PMID:21636032|PMID:24033266|PMID:25741868|PMID:26383259|PMID:26743238|PMID:28492532|PMID:31333075|PMID:31568572 12355727 DSP desmoplakin gene DOID:5805 subvalvular aortic stenosis ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Subvalvular aortic stenosis PMID:25741868|PMID:28492532 12355727 DSP desmoplakin gene DOID:630 genetic disease ISO RGD:1314043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532 12355727 DSP desmoplakin gene DOID:6364 migraine ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Migraine Disorders PMID:21606396|PMID:23292937|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26230511|PMID:26656175|PMID:27153395|PMID:28492532 12355727 DSP desmoplakin gene DOID:820 myocarditis ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Myocarditis PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28359509|PMID:28436997|PMID:28492532|PMID:32372669|PMID:32410525|PMID:34213952 12355727 DSP desmoplakin gene DOID:850 lung disease ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chronic lung disease PMID:25741868 12355727 DSP desmoplakin gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:16917092|PMID:20716751|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25525159|PMID:25741868|PMID:27532257|PMID:28471438|PMID:28492532|PMID:28527814|PMID:31402444|PMID:31447099 12355727 DSP desmoplakin gene DOID:9000184 Ventricular Fibrillation ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:25741868|PMID:28492532 12355727 DSP desmoplakin gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:20129281|PMID:20152563|PMID:21606396|PMID:21636032|PMID:21723241|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:25637381|PMID:25661095|PMID:25693453|PMID:25741868|PMID:28471438|PMID:28492532|PMID:30775854|PMID:31333075|PMID:31568572 12355727 DSP desmoplakin gene DOID:9000727 Syncope ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syncope PMID:25741868 12355727 DSP desmoplakin gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1314043 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 12355727 DSP desmoplakin gene DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic ISO RGD:1314043 D RGD:7240710 20180130 OMIM 12355727 DSP desmoplakin gene DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic ISO RGD:1314043 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:10395892|PMID:15210133|PMID:15941723|PMID:16175511|PMID:16199547|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20302578|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20613772|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24448499|PMID:24503780|PMID:24704780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25819062|PMID:25820315|PMID:25856671|PMID:25979592|PMID:26073755|PMID:26138720|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26743238|PMID:26833927|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29095814|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29915098|PMID:30086531|PMID:30165862|PMID:30276209|PMID:30354334|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30919684|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31264976|PMID:31333075|PMID:31378211|PMID:31402444|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32600061|PMID:32746448|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:33082984|PMID:33232181|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:34033898|PMID:34290054|PMID:34317553|PMID:34352074|PMID:35087879|PMID:9536098 12355727 DSP desmoplakin gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:20031617|PMID:20152563|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12355727 DSP desmoplakin gene DOID:9003163 Heart Block ISO RGD:1314043 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 12355727 DSP desmoplakin gene DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis ISO RGD:1314043 D RGD:7240710 20180130 OMIM 12355727 DSP desmoplakin gene DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis ISO RGD:1314043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis PMID:15941723|PMID:16175511|PMID:16199547|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19597050|PMID:19863551|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20716751|PMID:20864495|PMID:20940358|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22795705|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23651034|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24825141|PMID:24981977|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25819062|PMID:25979592|PMID:26138720|PMID:26187847|PMID:26220970|PMID:26272908|PMID:26332594|PMID:26399581|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26743238|PMID:26833927|PMID:27000522|PMID:27097650|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27532257|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28255936|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29095814|PMID:29192238|PMID:29247119|PMID:29607617|PMID:29633331|PMID:29802319|PMID:29915098|PMID:30165862|PMID:30276209|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30847666|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31378211|PMID:31402444|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32600061|PMID:32746448|PMID:32879264|PMID:32880476|PMID:32931854|PMID:33082984|PMID:33232181|PMID:33500567|PMID:33652588|PMID:34290054|PMID:34317553|PMID:34352074|PMID:35087879|PMID:9536098 12355727 DSP desmoplakin gene DOID:9004416 Paroxysmal Ventricular Fibrillation ISO RGD:1314043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation PMID:28492532 12355727 DSP desmoplakin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:24033266|PMID:25741868|PMID:28492532|PMID:28611029|PMID:29802319|PMID:30847666 12355727 DSP desmoplakin gene DOID:9005141 Ventricular Tachycardia ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:23396983|PMID:23861362|PMID:24033266|PMID:24125834|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31638414|PMID:31983221 12355727 DSP desmoplakin gene DOID:9006397 Ectodermal Dysplasia-Skin Fragility Syndrome ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mcgrath syndrome PMID:18632414|PMID:21636032|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532 12355727 DSP desmoplakin gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12355727 DSP desmoplakin gene DOID:9007018 Skin Fragility-Woolly Hair Syndrome ISO RGD:1314043 D RGD:7240710 20180130 OMIM 12355727 DSP desmoplakin gene DOID:9007018 Skin Fragility-Woolly Hair Syndrome ISO RGD:1314043 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Skin fragility woolly hair syndrome PMID:10395892|PMID:11278896|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16175511|PMID:16199547|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24448499|PMID:24503780|PMID:24704780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25819062|PMID:25820315|PMID:25856671|PMID:25979592|PMID:26073755|PMID:26138720|PMID:26148547|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26743238|PMID:26833927|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29095814|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29915098|PMID:30086531|PMID:30133754|PMID:30165862|PMID:30276209|PMID:30354334|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31264976|PMID:31333075|PMID:31378211|PMID:31402444|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32600061|PMID:32746448|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:33082984|PMID:33232181|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:34033898|PMID:34290054|PMID:34317553|PMID:34352074|PMID:35087879|PMID:9229116|PMID:9536098 12355727 DSP desmoplakin gene DOID:9007820 Sudden Death ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden death | ClinVar Annotator: match by term: Sudden unexplained death PMID:20031617|PMID:20152563|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27332903|PMID:28492532|PMID:28611029|PMID:29802319|PMID:30847666 12355727 DSP desmoplakin gene DOID:9007925 Sudden Cardiac Death ISO RGD:1314043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20435227 12355727 DSP desmoplakin gene DOID:9008086 Developmental Disabilities ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741904|PMID:28527814|PMID:31028357 12355727 DSP desmoplakin gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:1314043 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:28492532 12355727 DSP desmoplakin gene DOID:9008195 Subvalvular Aortic Stenosis, Eisenberg Type ISO RGD:1314043 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Subvalvular aortic stenosis, Eisenberg type PMID:25741868|PMID:28492532 12355727 DSP desmoplakin gene DOID:9120 amyloidosis ISO RGD:1314043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyloidosis PMID:24033266|PMID:24825141|PMID:25741868|PMID:28492532|PMID:33232181 12355727 DSP desmoplakin gene DOID:9651 systolic heart failure ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systolic heart failure PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12355755 IFIH1 interferon induced with helicase C domain 1 gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1347526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24686847 12355755 IFIH1 interferon induced with helicase C domain 1 gene DOID:0060025 immunoglobulin alpha deficiency ISO RGD:1347526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20694011|PMID:27723758 12355755 IFIH1 interferon induced with helicase C domain 1 gene DOID:0080600 COVID-19 ISO RGD:1347526 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12355755 IFIH1 interferon induced with helicase C domain 1 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1347526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:25741868|PMID:28492532|PMID:34185153 12355755 IFIH1 interferon induced with helicase C domain 1 gene DOID:0081013 severe COVID-19 ISO RGD:1347526 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 PMID:25741868|PMID:28492532 12355755 IFIH1 interferon induced with helicase C domain 1 gene DOID:10283 prostate cancer ISO RGD:1347526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12355755 IFIH1 interferon induced with helicase C domain 1 gene DOID:12306 vitiligo ISO RGD:1347526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 12355755 IFIH1 interferon induced with helicase C domain 1 gene DOID:12361 Graves' disease ISO RGD:1347526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17535987 12355755 IFIH1 interferon induced with helicase C domain 1 gene DOID:12849 autistic disorder ISO RGD:1347526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 12355755 IFIH1 interferon induced with helicase C domain 1 gene DOID:2365 West Nile encephalitis ISO RGD:1557966 D RGD:9068941 20210423 RGD mRNA:increased expression:brain PMID:24173226|REF_RGD_ID:126781836 12355755 IFIH1 interferon induced with helicase C domain 1 gene DOID:630 genetic disease ISO RGD:1347526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12355755 IFIH1 interferon induced with helicase C domain 1 gene DOID:8893 psoriasis ISO RGD:1347526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953190 12355755 IFIH1 interferon induced with helicase C domain 1 gene DOID:9000371 influenza A ISO RGD:1557966 D RGD:9068941 20210122 RGD mRNA:increased expression:nasal cavity mucosa (mouse) PMID:25751630|REF_RGD_ID:40925925 12355755 IFIH1 interferon induced with helicase C domain 1 gene DOID:9001488 Human Influenza ISO RGD:1347526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12355755 IFIH1 interferon induced with helicase C domain 1 gene DOID:9002571 Aicardi-Goutieres Syndrome 7 ISO RGD:1347526 D RGD:7240710 20180130 OMIM 12355755 IFIH1 interferon induced with helicase C domain 1 gene DOID:9002571 Aicardi-Goutieres Syndrome 7 ISO RGD:1347526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 PMID:21070929|PMID:24686847|PMID:24995871|PMID:25243380|PMID:25620204|PMID:25741868|PMID:26284909|PMID:26833990|PMID:28319323|PMID:28492532|PMID:28605144|PMID:29782060|PMID:30219631|PMID:30593198|PMID:30965144|PMID:31178897|PMID:31898846|PMID:34185153|PMID:34539730 12355755 IFIH1 interferon induced with helicase C domain 1 gene DOID:9003885 Singleton-Merten Syndrome 1 ISO RGD:1347526 D RGD:7240710 20190327 OMIM 12355755 IFIH1 interferon induced with helicase C domain 1 gene DOID:9003885 Singleton-Merten Syndrome 1 ISO RGD:1347526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Singleton-Merten syndrome 1 PMID:16199547|PMID:17576681|PMID:21070929|PMID:24686847|PMID:24995871|PMID:25620204|PMID:25741868|PMID:26833990|PMID:27577878|PMID:28319323|PMID:28475458|PMID:28492532|PMID:28606988|PMID:28716935|PMID:29018476|PMID:29270977|PMID:30219631|PMID:30564185|PMID:30707351|PMID:31178897|PMID:31898846|PMID:33440462|PMID:34185153|PMID:34539730|PMID:9536098 12355755 IFIH1 interferon induced with helicase C domain 1 gene DOID:9005219 Abnormal Reflexes ISO RGD:1347526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperreflexia PMID:24686847|PMID:24995871|PMID:25741868|PMID:26833990|PMID:28492532|PMID:31898846 12355755 IFIH1 interferon induced with helicase C domain 1 gene DOID:9006705 Immunodeficiency 95 ISO RGD:1347526 D RGD:7240710 20220316 OMIM 12355755 IFIH1 interferon induced with helicase C domain 1 gene DOID:9006705 Immunodeficiency 95 ISO RGD:1347526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 95 PMID:25741868|PMID:28492532|PMID:28606988|PMID:28716935|PMID:29018476|PMID:34185153 12355755 IFIH1 interferon induced with helicase C domain 1 gene DOID:9007096 Stroke ISO RGD:1347526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stroke PMID:25620204|PMID:25741868|PMID:28475458|PMID:28492532 12355755 IFIH1 interferon induced with helicase C domain 1 gene DOID:9007304 Singleton Merten Syndrome ISO RGD:1347526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12355755 IFIH1 interferon induced with helicase C domain 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1347526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838195|PMID:24686847 12355755 IFIH1 interferon induced with helicase C domain 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1557966 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12355776 CLCA1 chloride channel accessory 1 gene DOID:10320 asbestosis ISO RGD:1314776 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:17637221|REF_RGD_ID:4145655 12355776 CLCA1 chloride channel accessory 1 gene DOID:1485 cystic fibrosis ISO RGD:1314775 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:respiratory system mucosa PMID:15218996|REF_RGD_ID:4145657 12355776 CLCA1 chloride channel accessory 1 gene DOID:2841 asthma ISO RGD:1314775 D RGD:9068941 20200609 RGD PMID:17898169|REF_RGD_ID:4145653 12355776 CLCA1 chloride channel accessory 1 gene DOID:2841 asthma ISO RGD:1314776 D RGD:9068941 20200609 RGD PMID:11296262|REF_RGD_ID:4145661 12355776 CLCA1 chloride channel accessory 1 gene DOID:2841 asthma susceptibility ISO RGD:1314775 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:15318163|REF_RGD_ID:4145656 12355776 CLCA1 chloride channel accessory 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1314775 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:14985398|REF_RGD_ID:1331524 12355776 CLCA1 chloride channel accessory 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1314775 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchus PMID:17637221|REF_RGD_ID:4145655 12355776 CLCA1 chloride channel accessory 1 gene DOID:630 genetic disease ISO RGD:1314775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12355794 MNT MAX network transcriptional repressor gene DOID:0060469 Miller-Dieker lissencephaly syndrome ISO RGD:1318598 D RGD:9068941 20220825 MouseDO OMIM:247200 12355794 MNT MAX network transcriptional repressor gene DOID:630 genetic disease ISO RGD:1318597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12355794 MNT MAX network transcriptional repressor gene DOID:674 cleft palate ISO RGD:1318597 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15028671 12355794 MNT MAX network transcriptional repressor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12355794 MNT MAX network transcriptional repressor gene DOID:9008500 Classical Lissencephalies and Subcortical Band Heterotopias ISO RGD:1318597 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15028671 12355794 MNT MAX network transcriptional repressor gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1318597 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15028671 12355811 POLR3E RNA polymerase III subunit E gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:1317654 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5 PMID:25741868 12355811 POLR3E RNA polymerase III subunit E gene DOID:12849 autistic disorder ISO RGD:1317654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12355811 POLR3E RNA polymerase III subunit E gene DOID:5419 schizophrenia ISO RGD:1317654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12355811 POLR3E RNA polymerase III subunit E gene DOID:630 genetic disease ISO RGD:1317654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12355832 DSN1 DSN1 component of MIS12 kinetochore complex gene DOID:2234 focal epilepsy ISO RGD:1353084 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12355832 DSN1 DSN1 component of MIS12 kinetochore complex gene DOID:630 genetic disease ISO RGD:1353084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12355832 DSN1 DSN1 component of MIS12 kinetochore complex gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1353084 D RGD:9068941 20200609 RGD PMID:30136646|REF_RGD_ID:27372884 12355832 DSN1 DSN1 component of MIS12 kinetochore complex gene DOID:9256 colorectal cancer disease_progression ISO RGD:1353084 D RGD:9068941 20200609 RGD PMID:27329586|REF_RGD_ID:27372885 12355865 TMEM156 transmembrane protein 156 gene DOID:630 genetic disease ISO RGD:1605045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12355865 TMEM156 transmembrane protein 156 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1605045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 12355876 CELF5 CUGBP Elav-like family member 5 gene DOID:630 genetic disease ISO RGD:1345217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12355876 CELF5 CUGBP Elav-like family member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12355902 CCDC25 coiled-coil domain containing 25 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1605370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12355902 CCDC25 coiled-coil domain containing 25 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1605370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12355902 CCDC25 coiled-coil domain containing 25 gene DOID:630 genetic disease ISO RGD:1605370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12355919 KATNB1 katanin regulatory subunit B1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1322615 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12355919 KATNB1 katanin regulatory subunit B1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1322615 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12355919 KATNB1 katanin regulatory subunit B1 gene DOID:0112236 lissencephaly 6 ISO RGD:1322615 D RGD:7240710 20180130 OMIM 12355919 KATNB1 katanin regulatory subunit B1 gene DOID:0112236 lissencephaly 6 ISO RGD:1322615 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lissencephaly 6 with microcephaly PMID:25521378|PMID:25521379|PMID:25741868|PMID:28492532 12355919 KATNB1 katanin regulatory subunit B1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1322615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12355919 KATNB1 katanin regulatory subunit B1 gene DOID:630 genetic disease ISO RGD:1322615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12355950 PPAN peter pan homolog gene DOID:3910 lung adenocarcinoma ISO RGD:1314882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12355950 PPAN peter pan homolog gene DOID:630 genetic disease ISO RGD:1314882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12355950 PPAN peter pan homolog gene DOID:9004136 Cataplexy and Narcolepsy ISO RGD:1314882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataplexy and narcolepsy PMID:25669430 12355950 PPAN peter pan homolog gene DOID:9006205 Animal Disease Models ISO RGD:1314882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12355968 ADRM1 ADRM1 26S proteasome ubiquitin receptor gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12355968 ADRM1 ADRM1 26S proteasome ubiquitin receptor gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:736707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12355968 ADRM1 ADRM1 26S proteasome ubiquitin receptor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12355968 ADRM1 ADRM1 26S proteasome ubiquitin receptor gene DOID:10283 prostate cancer ISO RGD:736707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12355968 ADRM1 ADRM1 26S proteasome ubiquitin receptor gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12355968 ADRM1 ADRM1 26S proteasome ubiquitin receptor gene DOID:630 genetic disease ISO RGD:736707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12355981 ATG9A autophagy related 9A gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1353328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12355981 ATG9A autophagy related 9A gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1353328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12355981 ATG9A autophagy related 9A gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1353328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12355981 ATG9A autophagy related 9A gene DOID:1148 polydactyly ISO RGD:1353328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 12355981 ATG9A autophagy related 9A gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1353328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12355981 ATG9A autophagy related 9A gene DOID:630 genetic disease ISO RGD:1353328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12355981 ATG9A autophagy related 9A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12356018 LOC102155476 COX assembly mitochondrial protein 2 homolog gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1601986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 12356018 LOC102155476 COX assembly mitochondrial protein 2 homolog gene DOID:9008939 Breast Neoplasms ISO RGD:1601986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 12356039 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:735871 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12356039 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:0080600 COVID-19 ISO RGD:735871 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12356039 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:735871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12356039 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:0080855 Parkinsonism ISO RGD:735871 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:29886133 12356039 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:0111621 Temtamy syndrome ISO RGD:735871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12356039 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:10652 Alzheimer's disease ISO RGD:735871 D RGD:9068941 20200609 RGD PMID:28087189|REF_RGD_ID:13792604 12356039 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:10652 Alzheimer's disease ISO RGD:735871 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :rs740850, rs1060620 (human) PMID:18340469|REF_RGD_ID:13792612 12356039 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:10652 Alzheimer's disease ISO RGD:735871 D RGD:9068941 20200609 RGD protein:increased S-glutathionylation, decreased activity:inferior parietal cortex PMID:17387692|REF_RGD_ID:13792613 12356039 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:10652 Alzheimer's disease onset ISO RGD:735871 D RGD:9068941 20200609 RGD DNA:snps:5' utr, intron: (rs3741916, rs1060621) (human) PMID:15507493|REF_RGD_ID:1358618 12356039 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:735871 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:rs3741916 (human) PMID:20864222|REF_RGD_ID:13792611 12356039 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:11476 osteoporosis ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12356039 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:1749 squamous cell carcinoma ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12356039 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:3319 lymphangioleiomyomatosis ISO RGD:735871 D RGD:9068941 20220630 RGD protein:increased expression:lung (human) PMID:29885404|REF_RGD_ID:152995523 12356039 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:3910 lung adenocarcinoma ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12356039 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:630 genetic disease ISO RGD:735871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356039 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:684 hepatocellular carcinoma ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16767786|PMID:21472284 12356039 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:8398 osteoarthritis ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12356039 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:9000117 Esophageal Neoplasms ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 12356039 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:9001686 Acute Coronary Syndrome ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 12356039 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:9002669 Hypoxia ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 12356039 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:9005749 Necrosis ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25725130 12356039 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:9006205 Animal Disease Models ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12356039 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:735871 D RGD:9068941 20201218 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26541527|REF_RGD_ID:40902860 12356039 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:9007364 Mouth Neoplasms ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12356039 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:735871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12356039 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:9008443 Colorectal Neoplasms ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 12356039 GAPDH glyceraldehyde-3-phosphate dehydrogenase gene DOID:9009171 Primary Autosomal Recessive Microcephaly 21 ISO RGD:735871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive PMID:25741868|PMID:27737959 12356054 SMIM29 small integral membrane protein 29 gene DOID:0050553 JMP syndrome ISO RGD:1605841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12356066 KLHL7 kelch like family member 7 gene DOID:0050646 distal arthrogryposis ISO RGD:1313665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:18414213|PMID:25741868|PMID:29074562 12356066 KLHL7 kelch like family member 7 gene DOID:0060294 cold-induced sweating syndrome ISO RGD:1313665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12356066 KLHL7 kelch like family member 7 gene DOID:0080329 cold-induced sweating syndrome 1 ISO RGD:1313665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 PMID:25741868|PMID:27392078 12356066 KLHL7 kelch like family member 7 gene DOID:0080331 cold-induced sweating syndrome 3 ISO RGD:1313665 D RGD:7240710 20190315 OMIM 12356066 KLHL7 kelch like family member 7 gene DOID:0080331 cold-induced sweating syndrome 3 ISO RGD:1313665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 | ClinVar Annotator: match by term: PERCHING syndrome PMID:17576681|PMID:18414213|PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30300710|PMID:30426380|PMID:30997404|PMID:31953236|PMID:35670385|PMID:35699517|PMID:9536098 12356066 KLHL7 kelch like family member 7 gene DOID:0110386 retinitis pigmentosa 42 ISO RGD:1313665 D RGD:7240710 20180130 OMIM 12356066 KLHL7 kelch like family member 7 gene DOID:0110386 retinitis pigmentosa 42 ISO RGD:1313665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 42 PMID:17576681|PMID:1872134|PMID:19520207|PMID:21828050|PMID:22084217|PMID:25741868|PMID:28041643|PMID:28492532|PMID:31856884|PMID:35670385|PMID:9536098 12356066 KLHL7 kelch like family member 7 gene DOID:10584 retinitis pigmentosa ISO RGD:1313665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:19520207|PMID:21828050|PMID:25741868|PMID:27160483|PMID:28041643|PMID:28492532|PMID:31856884|PMID:32581362 12356066 KLHL7 kelch like family member 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12356066 KLHL7 kelch like family member 7 gene DOID:630 genetic disease ISO RGD:1313665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21828050|PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:31953236 12356066 KLHL7 kelch like family member 7 gene DOID:8501 fundus dystrophy ISO RGD:1313665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:19520207|PMID:21828050|PMID:25741868|PMID:28041643|PMID:28492532|PMID:31856884 12356066 KLHL7 kelch like family member 7 gene DOID:9001582 Bohring Syndrome ISO RGD:1313665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bohring-Opitz syndrome PMID:25741868 12356066 KLHL7 kelch like family member 7 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12356089 CDC14B cell division cycle 14B gene DOID:1059 intellectual disability ISO RGD:1322476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities 12356089 CDC14B cell division cycle 14B gene DOID:4450 renal cell carcinoma severity ISO RGD:1322476 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney: PMID:24619757|REF_RGD_ID:10059341 12356089 CDC14B cell division cycle 14B gene DOID:630 genetic disease ISO RGD:1322476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356089 CDC14B cell division cycle 14B gene DOID:9002644 Premature Aging ISO RGD:1322477 D RGD:9068941 20200609 RGD PMID:21262768|REF_RGD_ID:10059338 12356134 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:0060214 frontotemporal dementia and/or amyotrophic lateral sclerosis-2 ISO RGD:1347670 D RGD:7240710 20180130 OMIM 12356134 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:0060214 frontotemporal dementia and/or amyotrophic lateral sclerosis-2 ISO RGD:1347670 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: FTDALS2 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 PMID:17576681|PMID:22535186|PMID:24934289|PMID:25113787|PMID:25155093|PMID:25193783|PMID:25261972|PMID:25348631|PMID:25428574|PMID:25576308|PMID:25681414|PMID:25700176|PMID:25726362|PMID:25741868|PMID:25833818|PMID:26152333|PMID:26224640|PMID:27810918|PMID:28492532|PMID:28585542|PMID:29112723|PMID:29121267|PMID:29315381|PMID:29540477|PMID:29789341|PMID:30014597|PMID:31690696|PMID:33749723|PMID:9536098 12356134 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1347670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 12356134 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:1826 epilepsy ISO RGD:1347670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12356134 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1347670 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot disease PMID:25576308|PMID:25741868|PMID:28492532|PMID:29540477|PMID:30014597|PMID:31690696 12356134 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:5419 schizophrenia ISO RGD:1347670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12356134 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:630 genetic disease ISO RGD:1347670 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22535186|PMID:25155093|PMID:25428574|PMID:25576308|PMID:25700176|PMID:25726362|PMID:25741868|PMID:26224640|PMID:27810918|PMID:28492532|PMID:29315381|PMID:29540477|PMID:29789341|PMID:30014597|PMID:31690696 12356134 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:9004598 Spinal Muscular Atrophy, Jokela Type ISO RGD:1347670 D RGD:7240710 20180130 OMIM 12356134 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:9004598 Spinal Muscular Atrophy, Jokela Type ISO RGD:1347670 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, Jokela type | ClinVar Annotator: match by term: Spinal muscular atrophy, jokela type PMID:17576681|PMID:21715705|PMID:22535186|PMID:25113787|PMID:25155093|PMID:25193783|PMID:25261972|PMID:25348631|PMID:25428574|PMID:25576308|PMID:25681414|PMID:25700176|PMID:25726362|PMID:25741868|PMID:25833818|PMID:26152333|PMID:26224640|PMID:26719383|PMID:27066538|PMID:27810918|PMID:28492532|PMID:28585542|PMID:29112723|PMID:29121267|PMID:29315381|PMID:29540477|PMID:29789341|PMID:30014597|PMID:31690696|PMID:33749723|PMID:9536098 12356134 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:9008878 MITOCHONDRIAL MYOPATHY, ISOLATED, AUTOSOMAL DOMINANT ISO RGD:1347670 D RGD:7240710 20180130 OMIM 12356134 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:9008878 MITOCHONDRIAL MYOPATHY, ISOLATED, AUTOSOMAL DOMINANT ISO RGD:1347670 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Myopathy, isolated mitochondrial, autosomal dominant PMID:17576681|PMID:21715705|PMID:22535186|PMID:24934289|PMID:25113787|PMID:25155093|PMID:25193783|PMID:25261972|PMID:25348631|PMID:25428574|PMID:25576308|PMID:25681414|PMID:25700176|PMID:25726362|PMID:25741868|PMID:25833818|PMID:26152333|PMID:26224640|PMID:27066538|PMID:27810918|PMID:28492532|PMID:28585542|PMID:29112723|PMID:29121267|PMID:29315381|PMID:29540477|PMID:29789341|PMID:30014597|PMID:31690696|PMID:33749723|PMID:35700042|PMID:4104978|PMID:9536098 12356142 DCLRE1A DNA cross-link repair 1A gene DOID:630 genetic disease ISO RGD:1314610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356165 STAU2 staufen double-stranded RNA binding protein 2 gene DOID:10629 microphthalmia ISO RGD:621479 D RGD:9068941 20200609 RGD PMID:22940085|REF_RGD_ID:10043154 12356165 STAU2 staufen double-stranded RNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1351558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356165 STAU2 staufen double-stranded RNA binding protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12356195 TERB2 telomere repeat binding bouquet formation protein 2 gene DOID:0050712 AGAT deficiency ISO RGD:1606959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 12356195 TERB2 telomere repeat binding bouquet formation protein 2 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1606959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 12356195 TERB2 telomere repeat binding bouquet formation protein 2 gene DOID:0112357 spermatogenic failure 59 ISO RGD:1606959 D RGD:7240710 20211222 OMIM 12356195 TERB2 telomere repeat binding bouquet formation protein 2 gene DOID:0112357 spermatogenic failure 59 ISO RGD:1606959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 59 PMID:33211200 12356195 TERB2 telomere repeat binding bouquet formation protein 2 gene DOID:2717 Bloom syndrome ISO RGD:1606959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12356195 TERB2 telomere repeat binding bouquet formation protein 2 gene DOID:630 genetic disease ISO RGD:1606959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356195 TERB2 telomere repeat binding bouquet formation protein 2 gene DOID:9256 colorectal cancer ISO RGD:1606959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12356206 BZW1 basic leucine zipper and W2 domains 1 gene DOID:1909 melanoma ISO RGD:1347888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12356206 BZW1 basic leucine zipper and W2 domains 1 gene DOID:630 genetic disease ISO RGD:1347888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356206 BZW1 basic leucine zipper and W2 domains 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1347888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12356206 BZW1 basic leucine zipper and W2 domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12356225 PIKFYVE phosphoinositide kinase, FYVE-type zinc finger containing gene DOID:0060448 Fleck corneal dystrophy ISO RGD:1313818 D RGD:7240710 20180130 OMIM 12356225 PIKFYVE phosphoinositide kinase, FYVE-type zinc finger containing gene DOID:0060448 Fleck corneal dystrophy ISO RGD:1313818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fleck corneal dystrophy PMID:15902656|PMID:18558518|PMID:23288988|PMID:25741868|PMID:26396486|PMID:28492532 12356225 PIKFYVE phosphoinositide kinase, FYVE-type zinc finger containing gene DOID:14557 primary pulmonary hypertension ISO RGD:1313818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12356225 PIKFYVE phosphoinositide kinase, FYVE-type zinc finger containing gene DOID:630 genetic disease ISO RGD:1313818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356225 PIKFYVE phosphoinositide kinase, FYVE-type zinc finger containing gene DOID:8778 Crohn's disease ISO RGD:1313819 D RGD:9068941 20220825 MouseDO 12356225 PIKFYVE phosphoinositide kinase, FYVE-type zinc finger containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12356279 PHF13 PHD finger protein 13 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1317748 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12356279 PHF13 PHD finger protein 13 gene DOID:630 genetic disease ISO RGD:1317748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356279 PHF13 PHD finger protein 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12356287 IFI44L interferon induced protein 44 like gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1352700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 12356287 IFI44L interferon induced protein 44 like gene DOID:1470 major depressive disorder ISO RGD:1352700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29175309 12356287 IFI44L interferon induced protein 44 like gene DOID:630 genetic disease ISO RGD:1352700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356287 IFI44L interferon induced protein 44 like gene DOID:9001488 Human Influenza ISO RGD:1352700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12356303 PAPPA2 pappalysin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1312133 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12356303 PAPPA2 pappalysin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1312133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12356303 PAPPA2 pappalysin 2 gene DOID:630 genetic disease ISO RGD:1312133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356303 PAPPA2 pappalysin 2 gene DOID:9005722 SHORT STATURE, DAUBER-ARGENTE TYPE ISO RGD:1312133 D RGD:7240710 20211103 OMIM 12356303 PAPPA2 pappalysin 2 gene DOID:9005722 SHORT STATURE, DAUBER-ARGENTE TYPE ISO RGD:1312133 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short stature, Dauber-Argente type PMID:25741868|PMID:26902202|PMID:34272725 12356303 PAPPA2 pappalysin 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1312133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12356303 PAPPA2 pappalysin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12356343 ADGRB3 adhesion G protein-coupled receptor B3 gene DOID:630 genetic disease ISO RGD:1320187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356343 ADGRB3 adhesion G protein-coupled receptor B3 gene DOID:9007661 Dwarfism ISO RGD:1320187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12356385 HOXA7 homeobox A7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12356385 HOXA7 homeobox A7 gene DOID:630 genetic disease ISO RGD:1343560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356401 NPSR1 neuropeptide S receptor 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:1347629 D RGD:9068941 20200609 RGD PMID:17854592|REF_RGD_ID:4891931 12356401 NPSR1 neuropeptide S receptor 1 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:1347629 D RGD:9068941 20200609 RGD PMID:16938805|REF_RGD_ID:4891932 12356401 NPSR1 neuropeptide S receptor 1 gene DOID:2560 morphine dependence ISO RGD:1564154 D RGD:9068941 20200609 RGD PMID:23684726|REF_RGD_ID:9831198 12356401 NPSR1 neuropeptide S receptor 1 gene DOID:2841 asthma ISO RGD:1347629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 2 PMID:15073379 12356401 NPSR1 neuropeptide S receptor 1 gene DOID:2841 asthma susceptibility ISO RGD:1347629 D RGD:7240710 20190502 OMIM 12356401 NPSR1 neuropeptide S receptor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12356401 NPSR1 neuropeptide S receptor 1 gene DOID:535 sleep disorder ISO RGD:1558020 D RGD:9068941 20220825 MouseDO 12356401 NPSR1 neuropeptide S receptor 1 gene DOID:630 genetic disease ISO RGD:1347629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356401 NPSR1 neuropeptide S receptor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1347629 D RGD:9068941 20200609 RGD PMID:20179762|REF_RGD_ID:4891930 12356401 NPSR1 neuropeptide S receptor 1 gene DOID:9000499 Alcoholic Intoxication ISO RGD:1564154 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:19860802|REF_RGD_ID:9831199 12356401 NPSR1 neuropeptide S receptor 1 gene DOID:9001109 Anorexia ISO RGD:1564154 D RGD:9068941 20200609 RGD PMID:19821837|REF_RGD_ID:9835045 12356401 NPSR1 neuropeptide S receptor 1 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1564154 D RGD:9068941 20200609 RGD PMID:24884567|REF_RGD_ID:9831205 12356401 NPSR1 neuropeptide S receptor 1 gene DOID:9005632 Cocaine-Related Disorders treatment ISO RGD:1564154 D RGD:9068941 20200609 RGD PMID:22982682|REF_RGD_ID:9831202 12356414 UBXN2A UBX domain protein 2A gene DOID:630 genetic disease ISO RGD:1320427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356428 ZNF513 zinc finger protein 513 gene DOID:0110362 retinitis pigmentosa 58 ISO RGD:1321365 D RGD:7240710 20180130 OMIM 12356428 ZNF513 zinc finger protein 513 gene DOID:0110362 retinitis pigmentosa 58 ISO RGD:1321365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 58 PMID:20227676|PMID:20797688|PMID:25741868|PMID:28492532 12356428 ZNF513 zinc finger protein 513 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1321365 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12356428 ZNF513 zinc finger protein 513 gene DOID:10584 retinitis pigmentosa ISO RGD:1321365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20227676|PMID:20797688|PMID:25741868|PMID:28492532 12356428 ZNF513 zinc finger protein 513 gene DOID:630 genetic disease ISO RGD:1321365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12356428 ZNF513 zinc finger protein 513 gene DOID:8501 fundus dystrophy ISO RGD:1321365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 12356442 NLRP6 NLR family pyrin domain containing 6 gene DOID:0111969 immunodeficiency 39 ISO RGD:1350327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12356442 NLRP6 NLR family pyrin domain containing 6 gene DOID:630 genetic disease ISO RGD:1350327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356454 MGAT5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase gene DOID:576 proteinuria ISO RGD:620100 D RGD:9068941 20200609 RGD PMID:21257920|REF_RGD_ID:12798539 12356454 MGAT5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:737363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356454 MGAT5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23798564 12356454 MGAT5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase gene DOID:9006549 Enterovirus Infections ISO RGD:737363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28446605 12356482 LRFN1 leucine rich repeat and fibronectin type III domain containing 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1312309 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12356482 LRFN1 leucine rich repeat and fibronectin type III domain containing 1 gene DOID:630 genetic disease ISO RGD:1312309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356482 LRFN1 leucine rich repeat and fibronectin type III domain containing 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1312309 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12356489 PGPEP1 pyroglutamyl-peptidase I gene DOID:10283 prostate cancer ISO RGD:1348411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12356489 PGPEP1 pyroglutamyl-peptidase I gene DOID:630 genetic disease ISO RGD:1348411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356489 PGPEP1 pyroglutamyl-peptidase I gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1348411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12356497 AQP5 aquaporin 5 gene DOID:0111707 Bothnian type palmoplantar keratoderma ISO RGD:70371 D RGD:7240710 20180130 OMIM 12356497 AQP5 aquaporin 5 gene DOID:0111707 Bothnian type palmoplantar keratoderma ISO RGD:70371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma, Bothnian type PMID:23830519|PMID:25741868|PMID:27255181|PMID:28492532|PMID:34298581|PMID:7531539 12356497 AQP5 aquaporin 5 gene DOID:10140 dry eye syndrome ISO RGD:10184 D RGD:9068941 20220825 MouseDO 12356497 AQP5 aquaporin 5 gene DOID:11155 hypohidrosis ISO RGD:10184 D RGD:9068941 20200609 RGD PMID:11773623|REF_RGD_ID:70240 12356497 AQP5 aquaporin 5 gene DOID:2316 brain ischemia ISO RGD:2144 D RGD:9068941 20200609 RGD PMID:19616516|REF_RGD_ID:5490152 12356497 AQP5 aquaporin 5 gene DOID:630 genetic disease ISO RGD:70371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12356497 AQP5 aquaporin 5 gene DOID:9004610 Acute Lung Injury ISO RGD:2144 D RGD:9068941 20200609 RGD associated with Disseminated Intravascular Coagulation;mRNA,protein:decreased expression:lung: PMID:24806323|REF_RGD_ID:11553933 12356497 AQP5 aquaporin 5 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:70371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17245593|PMID:17270560 12356511 DNAAF4 dynein axonemal assembly factor 4 gene DOID:0050144 Kartagener syndrome ISO RGD:1343869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23872636 12356511 DNAAF4 dynein axonemal assembly factor 4 gene DOID:0060254 Robinow syndrome ISO RGD:1558065 D RGD:9068941 20220825 MouseDO 12356511 DNAAF4 dynein axonemal assembly factor 4 gene DOID:0060833 Griscelli syndrome type 2 ISO RGD:1343869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 2 PMID:28492532 12356511 DNAAF4 dynein axonemal assembly factor 4 gene DOID:0110615 primary ciliary dyskinesia 25 ISO RGD:1343869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 25 PMID:12954984|PMID:23872636|PMID:24033266|PMID:24824133|PMID:25186273|PMID:25741868|PMID:26139845|PMID:28492532|PMID:30067075|PMID:30290127|PMID:33760720 12356511 DNAAF4 dynein axonemal assembly factor 4 gene DOID:0110615 primary ciliary dyskinesia 25 susceptibility ISO RGD:1343869 D RGD:7240710 20230517 OMIM 12356511 DNAAF4 dynein axonemal assembly factor 4 gene DOID:12336 male infertility ISO RGD:1343869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23872636 12356511 DNAAF4 dynein axonemal assembly factor 4 gene DOID:2717 Bloom syndrome ISO RGD:1343869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12356511 DNAAF4 dynein axonemal assembly factor 4 gene DOID:4428 dyslexia ISO RGD:1343869 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dyslexia, susceptibility to, 1 PMID:12954984|PMID:23872636|PMID:24033266|PMID:25741868|PMID:28492532 12356511 DNAAF4 dynein axonemal assembly factor 4 gene DOID:4428 dyslexia susceptibility ISO RGD:1343869 D RGD:7240710 20230517 OMIM 12356511 DNAAF4 dynein axonemal assembly factor 4 gene DOID:630 genetic disease ISO RGD:1343869 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12356511 DNAAF4 dynein axonemal assembly factor 4 gene DOID:9256 colorectal cancer ISO RGD:1343869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12356511 DNAAF4 dynein axonemal assembly factor 4 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343869 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:23872636|PMID:24033266|PMID:24824133|PMID:25741868|PMID:26139845|PMID:28492532|PMID:30067075 12356530 TNIP2 TNFAIP3 interacting protein 2 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1317070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12356530 TNIP2 TNFAIP3 interacting protein 2 gene DOID:1856 cherubism ISO RGD:1317070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12356530 TNIP2 TNFAIP3 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1317070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356549 NES nestin gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:737242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12356549 NES nestin gene DOID:0111940 immunodeficiency 42 ISO RGD:737242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12356549 NES nestin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:737242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12356549 NES nestin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:737242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12356549 NES nestin gene DOID:1540 parathyroid carcinoma ISO RGD:737242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12356549 NES nestin gene DOID:2316 brain ischemia ISO RGD:3162 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:17697621|REF_RGD_ID:1642071 12356549 NES nestin gene DOID:2527 nephrosis ISO RGD:3162 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus PMID:17637254|REF_RGD_ID:1642072 12356549 NES nestin gene DOID:2527 nephrosis ISO RGD:737242 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16418842 12356549 NES nestin gene DOID:3021 acute kidney failure ISO RGD:3162 D RGD:9068941 20200609 RGD PMID:24503548|REF_RGD_ID:11570523 12356549 NES nestin gene DOID:3454 brain infarction ISO RGD:3162 D RGD:9068941 20200609 RGD associated with Hypertension PMID:16321245|REF_RGD_ID:1642069 12356549 NES nestin gene DOID:5812 MHC class II deficiency ISO RGD:737242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12356549 NES nestin gene DOID:630 genetic disease ISO RGD:737242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356549 NES nestin gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:737242 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16137769 12356549 NES nestin gene DOID:9001004 Chronic Periodontitis ISO RGD:737242 D RGD:9068941 20200609 RGD mRNA:decreased expression:gingival tissues PMID:21382035|REF_RGD_ID:6480655 12356549 NES nestin gene DOID:9004009 Reperfusion Injury ISO RGD:3162 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:17569338|REF_RGD_ID:1642074 12356549 NES nestin gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3162 D RGD:9068941 20200609 RGD PMID:24503548|REF_RGD_ID:11570523 12356549 NES nestin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12356557 GSTZ1 glutathione S-transferase zeta 1 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1352057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 12356557 GSTZ1 glutathione S-transferase zeta 1 gene DOID:0080600 COVID-19 ISO RGD:1352057 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12356557 GSTZ1 glutathione S-transferase zeta 1 gene DOID:11054 urinary bladder cancer ISO RGD:1352057 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22306368 12356557 GSTZ1 glutathione S-transferase zeta 1 gene DOID:3426 vestibular disease ISO RGD:1352057 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18776599 12356557 GSTZ1 glutathione S-transferase zeta 1 gene DOID:630 genetic disease ISO RGD:1352057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356557 GSTZ1 glutathione S-transferase zeta 1 gene DOID:9007857 Maleylacetoacetate Isomerase Deficiency ISO RGD:1352057 D RGD:7240710 20190315 OMIM 12356557 GSTZ1 glutathione S-transferase zeta 1 gene DOID:9007857 Maleylacetoacetate Isomerase Deficiency ISO RGD:1352057 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Maleylacetoacetate isomerase deficiency PMID:25741868|PMID:27876694 12356573 MSL3 MSL complex subunit 3 gene DOID:0050735 X-linked monogenic disease ISO RGD:1605696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30224647 12356573 MSL3 MSL complex subunit 3 gene DOID:0111838 Basilicata-Akhtar syndrome ISO RGD:1605696 D RGD:7240710 20191002 OMIM 12356573 MSL3 MSL complex subunit 3 gene DOID:0111838 Basilicata-Akhtar syndrome ISO RGD:1605696 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Basilicata-Akhtar syndrome PMID:25741868|PMID:30224647|PMID:33173220 12356573 MSL3 MSL complex subunit 3 gene DOID:0112018 non-syndromic X-linked intellectual disability 104 ISO RGD:1605696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 12356573 MSL3 MSL complex subunit 3 gene DOID:1059 intellectual disability ISO RGD:1605696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:30224647 12356573 MSL3 MSL complex subunit 3 gene DOID:12849 autistic disorder ISO RGD:1605696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12356573 MSL3 MSL complex subunit 3 gene DOID:13938 amenorrhea ISO RGD:1605696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12356573 MSL3 MSL complex subunit 3 gene DOID:630 genetic disease ISO RGD:1605696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16227571|PMID:30224647 12356573 MSL3 MSL complex subunit 3 gene DOID:9001487 Facies ISO RGD:1605696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30224647 12356573 MSL3 MSL complex subunit 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12356573 MSL3 MSL complex subunit 3 gene DOID:9006230 Neurologic Gait Disorders ISO RGD:1605696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30224647 12356573 MSL3 MSL complex subunit 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1605696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30224647 12356573 MSL3 MSL complex subunit 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1605696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30224647 12356596 MAP7D2 MAP7 domain containing 2 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1605254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12356596 MAP7D2 MAP7 domain containing 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12356596 MAP7D2 MAP7 domain containing 2 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1605254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12356596 MAP7D2 MAP7 domain containing 2 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1605254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12356596 MAP7D2 MAP7 domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1605254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12356596 MAP7D2 MAP7 domain containing 2 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1605254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12356596 MAP7D2 MAP7 domain containing 2 gene DOID:630 genetic disease ISO RGD:1605254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356596 MAP7D2 MAP7 domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12356640 TRERF1 transcriptional regulating factor 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1316196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12356640 TRERF1 transcriptional regulating factor 1 gene DOID:630 genetic disease ISO RGD:1316196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356640 TRERF1 transcriptional regulating factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1316196 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19075277 12356640 TRERF1 transcriptional regulating factor 1 gene DOID:905 Zellweger syndrome ISO RGD:1316196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12356687 COQ4 coenzyme Q4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312192 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12356687 COQ4 coenzyme Q4 gene DOID:0050952 spastic ataxia ISO RGD:1312192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25658047|PMID:25741868|PMID:26185144|PMID:28492532|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196 12356687 COQ4 coenzyme Q4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1312192 D RGD:7240710 20180130 OMIM 12356687 COQ4 coenzyme Q4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1312192 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:16199547|PMID:17576681|PMID:22368301|PMID:25658047|PMID:25741868|PMID:26185144|PMID:26795593|PMID:27513193|PMID:28492532|PMID:28540186|PMID:30659264|PMID:31332438|PMID:31396399|PMID:32056211|PMID:32718099|PMID:32860008|PMID:33206935|PMID:33215859|PMID:33704555|PMID:34440436|PMID:34445196|PMID:9536098 12356687 COQ4 coenzyme Q4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312192 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12356687 COQ4 coenzyme Q4 gene DOID:630 genetic disease ISO RGD:1312192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25658047|PMID:25741868|PMID:26185144|PMID:26795593|PMID:27513193|PMID:28492532|PMID:32056211|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196|PMID:9536098 12356687 COQ4 coenzyme Q4 gene DOID:9006534 Nervous System Malformations ISO RGD:1312192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28492532|PMID:32860008|PMID:33215859 12356687 COQ4 coenzyme Q4 gene DOID:9008582 Developmental Disease ISO RGD:1312192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:32056211 12356698 NHEJ1 non-homologous end joining factor 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1602683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12356698 NHEJ1 non-homologous end joining factor 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1602683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12356698 NHEJ1 non-homologous end joining factor 1 gene DOID:0111816 syndactyly type 1 ISO RGD:1602683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndactyly type 1 12356698 NHEJ1 non-homologous end joining factor 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1602683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12356698 NHEJ1 non-homologous end joining factor 1 gene DOID:1148 polydactyly ISO RGD:1602683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 12356698 NHEJ1 non-homologous end joining factor 1 gene DOID:1417 choroid disease IAGP D RGD:12801476 20230329 OMIA Collie eye anomaly PMID:14268789|PMID:14437837|PMID:6777963|PMID:4631461|PMID:4980212|PMID:4959239|PMID:4980211|PMID:9800301|PMID:10879403|PMID:10701187|PMID:11327669|PMID:12809679|PMID:16178848|PMID:17916641|PMID:20807925|PMID:19946851|PMID:17204124|PMID:7147637|PMID:6812274|PMID:6787732|PMID:480920|PMID:120471|PMID:4994718|PMID:4992161|PMID:5949333|PMID:22065099|PMID:22051190|PMID:26732749|PMID:27387721|PMID:28702949|PMID:29111596|PMID:31684941|PMID:34544496|PMID:35127102|PMID:35369581|PMID:35092136|PMID:26346323|PMID:24939474|PMID:5884039|PMID:36848350 12356698 NHEJ1 non-homologous end joining factor 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1602683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12356698 NHEJ1 non-homologous end joining factor 1 gene DOID:630 genetic disease ISO RGD:1602683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12356698 NHEJ1 non-homologous end joining factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12356698 NHEJ1 non-homologous end joining factor 1 gene DOID:9007485 Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation ISO RGD:1602683 D RGD:7240710 20180130 OMIM 12356698 NHEJ1 non-homologous end joining factor 1 gene DOID:9007485 Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation ISO RGD:1602683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NHEJ1 SYNDROME | ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | ClinVar Annotator: match by term: Severe combined immunodeficiency with sensitivity to ionizing radiation due to NHEJ1 deficiency PMID:12604777|PMID:16199547|PMID:16439204|PMID:16439205|PMID:16571728|PMID:17317666|PMID:17576681|PMID:20597108|PMID:25661488|PMID:25741868|PMID:26122175|PMID:26193622|PMID:28492532|PMID:28741180|PMID:31130284|PMID:31589614|PMID:9536098 12356713 PKNOX1 PBX/knotted 1 homeobox 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1312771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12356713 PKNOX1 PBX/knotted 1 homeobox 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1312771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12356713 PKNOX1 PBX/knotted 1 homeobox 1 gene DOID:630 genetic disease ISO RGD:1312771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356713 PKNOX1 PBX/knotted 1 homeobox 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1312771 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12356713 PKNOX1 PBX/knotted 1 homeobox 1 gene DOID:9263 homocystinuria ISO RGD:1312771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12356713 PKNOX1 PBX/knotted 1 homeobox 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1312771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12356741 CNBD1 cyclic nucleotide binding domain containing 1 gene DOID:630 genetic disease ISO RGD:1603547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356775 GALE UDP-galactose-4-epimerase gene DOID:0111458 galactose epimerase deficiency ISO RGD:733015 D RGD:7240710 20191106 OMIM 12356775 GALE UDP-galactose-4-epimerase gene DOID:0111458 galactose epimerase deficiency ISO RGD:733015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: UDPglucose-4-epimerase deficiency PMID:10086948|PMID:11117433|PMID:11279193|PMID:15639193|PMID:16199547|PMID:16301867|PMID:16302980|PMID:16385452|PMID:17576681|PMID:18188677|PMID:19250319|PMID:21703329|PMID:23430501|PMID:23644136|PMID:23732289|PMID:24033266|PMID:24578239|PMID:25150110|PMID:25741868|PMID:26565537|PMID:27604308|PMID:28173647|PMID:28247339|PMID:28492532|PMID:30247636|PMID:33510604|PMID:6408303|PMID:7305435|PMID:9326324|PMID:9536098|PMID:9538513|PMID:9973283 12356775 GALE UDP-galactose-4-epimerase gene DOID:630 genetic disease ISO RGD:733015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10086948|PMID:11117433|PMID:11279193|PMID:18188677|PMID:23644136|PMID:23732289|PMID:25741868|PMID:27604308|PMID:28247339|PMID:28492532|PMID:6408303|PMID:7305435|PMID:9973283 12356775 GALE UDP-galactose-4-epimerase gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:733015 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12356775 GALE UDP-galactose-4-epimerase gene DOID:9870 galactosemia ISO RGD:733015 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25526675 12356798 ILVBL ilvB acetolactate synthase like gene DOID:630 genetic disease ISO RGD:1317496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356818 FUS FUS RNA binding protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1318882 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant PMID:28492532 12356818 FUS FUS RNA binding protein gene DOID:0060198 amyotrophic lateral sclerosis type 6 ISO RGD:1318882 D RGD:7240710 20180130 OMIM 12356818 FUS FUS RNA binding protein gene DOID:0060198 amyotrophic lateral sclerosis type 6 ISO RGD:1318882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6 PMID:12840784|PMID:12858291|PMID:16199547|PMID:17576681|PMID:19251627|PMID:19251628|PMID:19450904|PMID:19741215|PMID:19741216|PMID:19861302|PMID:20018407|PMID:20124201|PMID:20138404|PMID:20142531|PMID:20232451|PMID:20385912|PMID:20472325|PMID:20544928|PMID:20577002|PMID:20579074|PMID:20598774|PMID:20606625|PMID:20621307|PMID:20660363|PMID:20668259|PMID:20668261|PMID:20674093|PMID:20699327|PMID:21158017|PMID:21261515|PMID:21280085|PMID:21487023|PMID:21604077|PMID:21881207|PMID:21907581|PMID:21943958|PMID:21949354|PMID:21965298|PMID:22055719|PMID:22292843|PMID:22340366|PMID:22645277|PMID:22722621|PMID:22863194|PMID:22980027|PMID:23046859|PMID:23056579|PMID:23085990|PMID:23217123|PMID:23257289|PMID:23545117|PMID:23577159|PMID:23731953|PMID:23834335|PMID:23834483|PMID:23847048|PMID:23881933|PMID:24033266|PMID:24080306|PMID:24204307|PMID:24262168|PMID:24280224|PMID:24439481|PMID:24575823|PMID:24738488|PMID:24899262|PMID:24908169|PMID:25173930|PMID:25274782|PMID:25289647|PMID:25324524|PMID:25382069|PMID:25457557|PMID:25525159|PMID:25558820|PMID:25585530|PMID:25625564|PMID:25631824|PMID:25681989|PMID:25741868|PMID:26251528|PMID:26452761|PMID:26467025|PMID:26500017|PMID:26601740|PMID:26725112|PMID:26788680|PMID:26795035|PMID:27123482|PMID:27604643|PMID:28273913|PMID:28288521|PMID:28429524|PMID:28430856|PMID:28492532|PMID:28642336|PMID:29525178|PMID:29547565|PMID:30279455|PMID:30349096|PMID:30455313|PMID:30507891|PMID:30879340|PMID:31682085|PMID:31692161|PMID:32038460|PMID:32116048|PMID:32638105|PMID:32951934|PMID:33082139|PMID:33159016|PMID:9536098 12356818 FUS FUS RNA binding protein gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1318882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12356818 FUS FUS RNA binding protein gene DOID:0111431 essential tremor 4 ISO RGD:1318882 D RGD:7240710 20180130 OMIM 12356818 FUS FUS RNA binding protein gene DOID:0111431 essential tremor 4 ISO RGD:1318882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor, hereditary essential, 4 PMID:19741215|PMID:19861302|PMID:20018407|PMID:20138404|PMID:20142531|PMID:21158017|PMID:21261515|PMID:21943958|PMID:22292843|PMID:22863194|PMID:23834483|PMID:25382069|PMID:25558820|PMID:25585530|PMID:25741868|PMID:26467025|PMID:26725112|PMID:28430856|PMID:28492532|PMID:30279455|PMID:32638105 12356818 FUS FUS RNA binding protein gene DOID:1115 sarcoma ISO RGD:1318882 D RGD:9068941 20200609 RGD PMID:21658743|PMID:21677541|REF_RGD_ID:5509905|REF_RGD_ID:5509906 12356818 FUS FUS RNA binding protein gene DOID:12377 spinal muscular atrophy ISO RGD:1318882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy 12356818 FUS FUS RNA binding protein gene DOID:1289 neurodegenerative disease ISO RGD:1318882 D RGD:9068941 20200609 RGD PMID:21908872|REF_RGD_ID:5509901 12356818 FUS FUS RNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1318882 D RGD:9068941 20200609 RGD PMID:21408206|PMID:22055719|REF_RGD_ID:5509900|REF_RGD_ID:9685710 12356818 FUS FUS RNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1318882 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:28478440|PMID:29419416|PMID:29434138|PMID:30455313 12356818 FUS FUS RNA binding protein gene DOID:3382 liposarcoma ISO RGD:1318882 D RGD:9068941 20200609 RGD PMID:20332486|REF_RGD_ID:5509913 12356818 FUS FUS RNA binding protein gene DOID:5363 myxoid liposarcoma ISO RGD:1318882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7503811|PMID:8510758 12356818 FUS FUS RNA binding protein gene DOID:543 dystonia ISO RGD:1318882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868 12356818 FUS FUS RNA binding protein gene DOID:630 genetic disease ISO RGD:1318882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19741215|PMID:19741216|PMID:19861302|PMID:20018407|PMID:20138404|PMID:20142531|PMID:20385912|PMID:21158017|PMID:21261515|PMID:21943958|PMID:22292843|PMID:22722621|PMID:22863194|PMID:23834483|PMID:25382069|PMID:25558820|PMID:25585530|PMID:25631824|PMID:25741868|PMID:26467025|PMID:26725112|PMID:28430856|PMID:28492532|PMID:29547565|PMID:30270202|PMID:30279455|PMID:32638105 12356818 FUS FUS RNA binding protein gene DOID:9000276 Juvenile Amyotrophic Lateral Sclerosis ISO RGD:1318882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis PMID:19251627|PMID:19450904|PMID:20579074|PMID:20606625|PMID:20668261|PMID:21280085|PMID:21604077|PMID:21881207|PMID:21907581|PMID:21949354|PMID:22980027|PMID:23056579|PMID:23085990|PMID:23881933|PMID:24899262|PMID:25173930|PMID:25625564|PMID:25741868|PMID:26251528|PMID:26467025|PMID:27123482|PMID:28492532 12356818 FUS FUS RNA binding protein gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1318882 D RGD:9068941 20200609 RGD PMID:21408206|PMID:21847626|REF_RGD_ID:5509902|REF_RGD_ID:9685710 12356818 FUS FUS RNA binding protein gene DOID:9255 frontotemporal dementia ISO RGD:1318882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:22863194|PMID:25382069|PMID:25558820|PMID:25741868|PMID:26467025|PMID:28430856|PMID:28492532|PMID:30279455|PMID:32638105 12356895 OR7E24 olfactory receptor family 7 subfamily E member 24 gene DOID:12849 autistic disorder ISO RGD:1351971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12356895 OR7E24 olfactory receptor family 7 subfamily E member 24 gene DOID:630 genetic disease ISO RGD:1351971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356899 RTN1 reticulon 1 gene DOID:630 genetic disease ISO RGD:732399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356899 RTN1 reticulon 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:732399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12356910 TAF6L TATA-box binding protein associated factor 6 like gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1320845 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12356910 TAF6L TATA-box binding protein associated factor 6 like gene DOID:1059 intellectual disability ISO RGD:1320845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12356910 TAF6L TATA-box binding protein associated factor 6 like gene DOID:630 genetic disease ISO RGD:1320845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356946 DDB1 damage specific DNA binding protein 1 gene DOID:0050888 syndromic intellectual disability ISO RGD:734016 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:33743206 12356946 DDB1 damage specific DNA binding protein 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:734016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12356946 DDB1 damage specific DNA binding protein 1 gene DOID:1059 intellectual disability ISO RGD:734016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12356946 DDB1 damage specific DNA binding protein 1 gene DOID:14764 Larsen syndrome ISO RGD:734016 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Larsen syndrome PMID:25741868 12356946 DDB1 damage specific DNA binding protein 1 gene DOID:1682 congenital heart disease ISO RGD:734016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 12356946 DDB1 damage specific DNA binding protein 1 gene DOID:630 genetic disease ISO RGD:734016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:33743206 12356946 DDB1 damage specific DNA binding protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:734016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12356946 DDB1 damage specific DNA binding protein 1 gene DOID:9000918 Disease Progression ISO RGD:734016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12356946 DDB1 damage specific DNA binding protein 1 gene DOID:9004434 WHITE-KERNOHAN SYNDROME ISO RGD:734016 D RGD:7240710 20210901 OMIM 12356946 DDB1 damage specific DNA binding protein 1 gene DOID:9004434 WHITE-KERNOHAN SYNDROME ISO RGD:734016 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: White-Kernohan syndrome PMID:25741868|PMID:33743206 12356946 DDB1 damage specific DNA binding protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12356977 GOLGB1 golgin B1 gene DOID:12712 nephronophthisis ISO RGD:1351894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15723066|PMID:20881296|PMID:28492532 12356977 GOLGB1 golgin B1 gene DOID:2256 osteochondrodysplasia ISO RGD:708429 D RGD:9068941 20210122 RGD DNA:frameshift mutation:exon 13: (rat) PMID:21851869|REF_RGD_ID:40902994 12356977 GOLGB1 golgin B1 gene DOID:630 genetic disease ISO RGD:1351894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12356977 GOLGB1 golgin B1 gene DOID:674 cleft palate ISO RGD:1557666 D RGD:9068941 20220825 MouseDO 12356977 GOLGB1 golgin B1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1351894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12356977 GOLGB1 golgin B1 gene DOID:9270 alkaptonuria ISO RGD:1351894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12357003 ZFYVE16 zinc finger FYVE-type containing 16 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1348980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 12357003 ZFYVE16 zinc finger FYVE-type containing 16 gene DOID:630 genetic disease ISO RGD:1348980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357003 ZFYVE16 zinc finger FYVE-type containing 16 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348980 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12357003 ZFYVE16 zinc finger FYVE-type containing 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12357003 ZFYVE16 zinc finger FYVE-type containing 16 gene DOID:9565 dextrocardia ISO RGD:1348980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dextrocardia 12357026 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:0060903 thrombosis ISO RGD:1604306 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombus PMID:17110455|PMID:18252229|PMID:25741868|PMID:28492532 12357026 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:0080665 warfarin resistance ISO RGD:1604306 D RGD:7240710 20180130 OMIM 12357026 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:0080665 warfarin resistance ISO RGD:1604306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coumarin resistance PMID:14765194|PMID:15358623|PMID:15883587|PMID:15888487|PMID:16201835|PMID:16270629|PMID:16432637|PMID:16611750|PMID:16676068|PMID:16815313|PMID:16821005|PMID:17031720|PMID:17110455|PMID:17111199|PMID:17329985|PMID:17391071|PMID:17596133|PMID:17989110|PMID:18030307|PMID:18240904|PMID:18252229|PMID:18466099|PMID:18574025|PMID:18629445|PMID:18690342|PMID:18781852|PMID:18855533|PMID:18950464|PMID:19074728|PMID:19077919|PMID:19177029|PMID:19225451|PMID:19270263|PMID:19297219|PMID:19794411|PMID:19874474|PMID:20020283|PMID:20128861|PMID:20203262|PMID:20376629|PMID:20555338|PMID:20585834|PMID:20833980|PMID:21057703|PMID:21110013|PMID:21148049|PMID:21176721|PMID:21273734|PMID:21318593|PMID:21326313|PMID:21636598|PMID:21981797|PMID:22075505|PMID:22248286|PMID:22534826|PMID:22549502|PMID:22571356|PMID:22592842|PMID:22920394|PMID:22990331|PMID:22992668|PMID:23016521|PMID:23104259|PMID:23159229|PMID:23183958|PMID:23279643|PMID:23299853|PMID:23423913|PMID:23602689|PMID:23774101|PMID:23932037|PMID:23990957|PMID:24019055|PMID:24224579|PMID:24474498|PMID:24728385|PMID:24919870|PMID:25001883|PMID:25026456|PMID:25244877|PMID:25521356|PMID:25741868|PMID:25769357|PMID:25989350|PMID:26223945|PMID:26257249|PMID:26433837|PMID:26445138|PMID:26739746|PMID:26777610|PMID:26984978|PMID:26996562|PMID:27121899|PMID:27262824|PMID:27488176|PMID:27581200|PMID:27617219|PMID:27703968|PMID:27938396|PMID:28033245|PMID:28049362|PMID:28262345|PMID:28492532|PMID:28689179|PMID:29054760|PMID:29432897|PMID:29577257|PMID:30207196|PMID:30983536|PMID:31653973 12357026 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:0080666 warfarin sensitivity ISO RGD:1604306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Warfarin sensitivity PMID:14765194|PMID:15358623|PMID:15883587|PMID:15888487|PMID:16201835|PMID:16270629|PMID:16432637|PMID:16611750|PMID:16676068|PMID:16815313|PMID:16821005|PMID:17031720|PMID:17110455|PMID:17111199|PMID:17329985|PMID:17391071|PMID:17596133|PMID:17989110|PMID:18030307|PMID:18240904|PMID:18252229|PMID:18466099|PMID:18574025|PMID:18629445|PMID:18690342|PMID:18781852|PMID:18855533|PMID:18950464|PMID:19074728|PMID:19077919|PMID:19177029|PMID:19225451|PMID:19270263|PMID:19297219|PMID:19794411|PMID:19874474|PMID:20020283|PMID:20128861|PMID:20203262|PMID:20376629|PMID:20555338|PMID:20585834|PMID:20833980|PMID:21057703|PMID:21110013|PMID:21148049|PMID:21176721|PMID:21273734|PMID:21318593|PMID:21326313|PMID:21636598|PMID:21981797|PMID:22075505|PMID:22248286|PMID:22534826|PMID:22549502|PMID:22571356|PMID:22592842|PMID:22920394|PMID:22990331|PMID:22992668|PMID:23016521|PMID:23104259|PMID:23159229|PMID:23183958|PMID:23279643|PMID:23299853|PMID:23423913|PMID:23602689|PMID:23774101|PMID:23932037|PMID:23990957|PMID:24019055|PMID:24224579|PMID:24474498|PMID:24728385|PMID:24919870|PMID:25001883|PMID:25026456|PMID:25244877|PMID:25521356|PMID:25741868|PMID:25769357|PMID:25989350|PMID:26223945|PMID:26257249|PMID:26433837|PMID:26445138|PMID:26739746|PMID:26777610|PMID:26984978|PMID:26996562|PMID:27121899|PMID:27262824|PMID:27488176|PMID:27581200|PMID:27617219|PMID:27703968|PMID:27938396|PMID:28033245|PMID:28049362|PMID:28262345|PMID:28492532|PMID:28689179|PMID:29054760|PMID:29432897|PMID:29577257|PMID:30207196|PMID:30983536|PMID:31653973 12357026 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1604306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12357026 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 ISO RGD:1604306 D RGD:7240710 20180130 OMIM 12357026 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 ISO RGD:1604306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitamin K-dependent clotting factors, combined deficiency of, type 2 PMID:11154138|PMID:14765194|PMID:15358623|PMID:15883587|PMID:16270629|PMID:16270630|PMID:16611750|PMID:16676068|PMID:16879214|PMID:16890578|PMID:17049586|PMID:17110455|PMID:17189218|PMID:18252229|PMID:18315553|PMID:18466099|PMID:19344422|PMID:20128861|PMID:20653676|PMID:21127708|PMID:21326313|PMID:21635147|PMID:22349464|PMID:22992668|PMID:23039877|PMID:23208322|PMID:23990957|PMID:24019055|PMID:24838629|PMID:25084205|PMID:25126975|PMID:25594941|PMID:25741868|PMID:28492532 12357026 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:1247 blood coagulation disease ISO RGD:1604306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19141161 12357026 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:178 vascular disease ISO RGD:1604306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16549638 12357026 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:9000185 Coumarin Sensitivity ISO RGD:1604306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: COUMARIN SENSITIVITY PMID:14765194|PMID:15358623|PMID:15883587|PMID:15888487|PMID:16201835|PMID:16270629|PMID:16432637|PMID:16611750|PMID:16676068|PMID:16815313|PMID:16821005|PMID:17031720|PMID:17110455|PMID:17111199|PMID:17329985|PMID:17391071|PMID:17596133|PMID:17989110|PMID:18030307|PMID:18240904|PMID:18252229|PMID:18466099|PMID:18574025|PMID:18629445|PMID:18690342|PMID:18781852|PMID:18855533|PMID:18950464|PMID:19074728|PMID:19077919|PMID:19177029|PMID:19225451|PMID:19270263|PMID:19297219|PMID:19794411|PMID:19874474|PMID:20020283|PMID:20128861|PMID:20203262|PMID:20376629|PMID:20555338|PMID:20585834|PMID:20833980|PMID:21057703|PMID:21110013|PMID:21148049|PMID:21176721|PMID:21273734|PMID:21318593|PMID:21326313|PMID:21636598|PMID:21981797|PMID:22075505|PMID:22248286|PMID:22534826|PMID:22549502|PMID:22571356|PMID:22592842|PMID:22920394|PMID:22990331|PMID:22992668|PMID:23016521|PMID:23104259|PMID:23159229|PMID:23183958|PMID:23279643|PMID:23299853|PMID:23423913|PMID:23602689|PMID:23774101|PMID:23932037|PMID:23990957|PMID:24019055|PMID:24224579|PMID:24474498|PMID:24728385|PMID:24919870|PMID:25001883|PMID:25026456|PMID:25244877|PMID:25521356|PMID:25741868|PMID:25769357|PMID:25989350|PMID:26223945|PMID:26257249|PMID:26433837|PMID:26445138|PMID:26739746|PMID:26777610|PMID:26984978|PMID:26996562|PMID:27121899|PMID:27262824|PMID:27488176|PMID:27581200|PMID:27617219|PMID:27703968|PMID:27938396|PMID:28033245|PMID:28049362|PMID:28262345|PMID:28492532|PMID:28689179|PMID:29054760|PMID:29432897|PMID:29577257|PMID:30207196|PMID:30983536|PMID:31653973 12357026 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:9000528 Coronary Disease ISO RGD:1604306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16549638 12357026 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:9000815 Aortic Calcification susceptibility ISO RGD:1303107 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.Y139C (416A>G) (rat) PMID:19884975|REF_RGD_ID:2315841 12357026 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:9003505 Venous Thromboembolism ISO RGD:1604306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Venous thromboembolism PMID:15888487|PMID:18252229|PMID:18574025|PMID:18629445|PMID:18690342|PMID:18950464|PMID:19794411|PMID:19874474|PMID:20376629|PMID:20555338|PMID:20833980|PMID:21057703|PMID:21110013|PMID:21148049|PMID:21318593|PMID:21636598|PMID:22571356|PMID:22592842|PMID:22990331|PMID:22992668|PMID:23016521|PMID:23104259|PMID:23279643|PMID:23299853|PMID:23423913|PMID:23602689|PMID:23774101|PMID:23932037|PMID:24224579|PMID:24474498|PMID:24919870|PMID:25001883|PMID:25244877|PMID:25521356|PMID:25769357|PMID:26445138|PMID:26739746|PMID:26777610|PMID:26984978|PMID:27262824|PMID:27488176|PMID:27581200|PMID:27703968|PMID:28033245|PMID:28049362|PMID:28689179|PMID:29432897|PMID:29577257 12357026 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:9004080 Aortic Rupture ISO RGD:1604306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16549638 12357026 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1604306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26445138 12357026 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:9007096 Stroke ISO RGD:1604306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16549638 12357026 VKORC1 vitamin K epoxide reductase complex subunit 1 gene DOID:9008217 Hemorrhage ISO RGD:1604306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20597268|PMID:26445138 12357033 TBX15 T-box transcription factor 15 gene DOID:0050722 PHGDH deficiency ISO RGD:1317666 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:14645240|PMID:24836451|PMID:28492532 12357033 TBX15 T-box transcription factor 15 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1317666 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 12357033 TBX15 T-box transcription factor 15 gene DOID:630 genetic disease ISO RGD:1317666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12357033 TBX15 T-box transcription factor 15 gene DOID:9004239 Cousin Syndrome ISO RGD:1317666 D RGD:7240710 20180130 OMIM 12357033 TBX15 T-box transcription factor 15 gene DOID:9004239 Cousin Syndrome ISO RGD:1317666 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pelviscapular dysplasia PMID:19068278|PMID:25741868|PMID:28492532 12357033 TBX15 T-box transcription factor 15 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1317666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 12357033 TBX15 T-box transcription factor 15 gene DOID:9006257 Growth Disorders ISO RGD:1317666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19068278 12357033 TBX15 T-box transcription factor 15 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1317666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19068278 12357058 SLC43A1 solute carrier family 43 member 1 gene DOID:1059 intellectual disability ISO RGD:1317883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12357058 SLC43A1 solute carrier family 43 member 1 gene DOID:630 genetic disease ISO RGD:1317883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357080 MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:0050444 infantile Refsum disease ISO RGD:733615 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 12357080 MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:733615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12357080 MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:733615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12357080 MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:630 genetic disease ISO RGD:733615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357080 MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:905 Zellweger syndrome ISO RGD:733615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 12357080 MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733615 D RGD:7240710 20180130 OMIM 12357080 MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to PMID:10700186 12357095 SERPINB7 serpin family B member 7 gene DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies ISO RGD:736732 D RGD:9068941 20200609 RGD PMID:16782060|REF_RGD_ID:7207386 12357095 SERPINB7 serpin family B member 7 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:736732 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12357095 SERPINB7 serpin family B member 7 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:736732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 12357095 SERPINB7 serpin family B member 7 gene DOID:10952 nephritis ISO RGD:71063 D RGD:9068941 20200609 RGD PMID:11473647|REF_RGD_ID:70611 12357095 SERPINB7 serpin family B member 7 gene DOID:2986 IgA glomerulonephritis ISO RGD:736732 D RGD:9068941 20200609 RGD DNA:SNP:5' utr, exon:267G>A (human) PMID:16796905|REF_RGD_ID:7207380 12357095 SERPINB7 serpin family B member 7 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:736732 D RGD:9068941 20200609 RGD DNA:SNP: :23167A>G (human) PMID:16550745|REF_RGD_ID:7207372 12357095 SERPINB7 serpin family B member 7 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:736732 D RGD:9068941 20200609 RGD DNA:SNPs:3' utr:2093C>T, 2180C>T (human) PMID:18793525|REF_RGD_ID:7207366 12357095 SERPINB7 serpin family B member 7 gene DOID:630 genetic disease ISO RGD:736732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12357095 SERPINB7 serpin family B member 7 gene DOID:9000205 Palmoplantar Keratoderma, Nagashima Type ISO RGD:736732 D RGD:7240710 20180130 OMIM 12357095 SERPINB7 serpin family B member 7 gene DOID:9000205 Palmoplantar Keratoderma, Nagashima Type ISO RGD:736732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma, Nagashima type PMID:24207119|PMID:24514002|PMID:24773080|PMID:25741868|PMID:27543371|PMID:27666198|PMID:28492532 12357095 SERPINB7 serpin family B member 7 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736732 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:16443768|REF_RGD_ID:7207374 12357095 SERPINB7 serpin family B member 7 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736732 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:intron:rs1720843 (human) PMID:19690890|REF_RGD_ID:7207378 12357133 MYL9 myosin light chain 9 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1322585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral myopathy PMID:21293372|PMID:25741868|PMID:29453416|PMID:33031641 12357133 MYL9 myosin light chain 9 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1322585 D RGD:9068941 20200609 RGD PMID:16076902|REF_RGD_ID:1582589 12357133 MYL9 myosin light chain 9 gene DOID:178 vascular disease ISO RGD:1322585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18511912 12357133 MYL9 myosin light chain 9 gene DOID:2234 focal epilepsy ISO RGD:1322585 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12357133 MYL9 myosin light chain 9 gene DOID:4724 brain edema ISO RGD:1322585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17419808 12357133 MYL9 myosin light chain 9 gene DOID:630 genetic disease ISO RGD:1322585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357133 MYL9 myosin light chain 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12357133 MYL9 myosin light chain 9 gene DOID:9006417 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 ISO RGD:1322585 D RGD:7240710 20210707 OMIM 12357133 MYL9 myosin light chain 9 gene DOID:9006417 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 ISO RGD:1322585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 PMID:21293372|PMID:25741868|PMID:33031641 12357146 MCM10 minichromosome maintenance 10 replication initiation factor gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1322725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12357146 MCM10 minichromosome maintenance 10 replication initiation factor gene DOID:0080600 COVID-19 ISO RGD:1322725 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12357146 MCM10 minichromosome maintenance 10 replication initiation factor gene DOID:1070 primary open angle glaucoma ISO RGD:1322725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:28492532 12357146 MCM10 minichromosome maintenance 10 replication initiation factor gene DOID:630 genetic disease ISO RGD:1322725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357146 MCM10 minichromosome maintenance 10 replication initiation factor gene DOID:684 hepatocellular carcinoma ISO RGD:1322725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12357146 MCM10 minichromosome maintenance 10 replication initiation factor gene DOID:9004909 Immunodeficiency 80 ISO RGD:1322725 D RGD:7240710 20210526 OMIM 12357146 MCM10 minichromosome maintenance 10 replication initiation factor gene DOID:9004909 Immunodeficiency 80 ISO RGD:1322725 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 80 with or without congenital cardiomyopathy PMID:25741868|PMID:32865517|PMID:33712616 12357178 GPX6 glutathione peroxidase 6 gene DOID:0060041 autism spectrum disorder ISO RGD:735998 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12357178 GPX6 glutathione peroxidase 6 gene DOID:11372 megacolon ISO RGD:735998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12357178 GPX6 glutathione peroxidase 6 gene DOID:12858 Huntington's disease ISO RGD:735998 D RGD:9068941 20200609 RGD PMID:18588971|REF_RGD_ID:13432193 12357178 GPX6 glutathione peroxidase 6 gene DOID:4001 ovarian carcinoma ISO RGD:735998 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:25581431 12357178 GPX6 glutathione peroxidase 6 gene DOID:630 genetic disease ISO RGD:735998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357191 MEF2D myocyte enhancer factor 2D gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:733415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12357191 MEF2D myocyte enhancer factor 2D gene DOID:0111940 immunodeficiency 42 ISO RGD:733415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12357191 MEF2D myocyte enhancer factor 2D gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:733415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12357191 MEF2D myocyte enhancer factor 2D gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:733415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12357191 MEF2D myocyte enhancer factor 2D gene DOID:12783 migraine without aura ISO RGD:733415 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683712 12357191 MEF2D myocyte enhancer factor 2D gene DOID:1324 lung cancer treatment ISO RGD:733415 D RGD:9068941 20220224 RGD human cells in mouse model PMID:25472877|REF_RGD_ID:151361106 12357191 MEF2D myocyte enhancer factor 2D gene DOID:1540 parathyroid carcinoma ISO RGD:733415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12357191 MEF2D myocyte enhancer factor 2D gene DOID:5812 MHC class II deficiency ISO RGD:733415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12357191 MEF2D myocyte enhancer factor 2D gene DOID:630 genetic disease ISO RGD:733415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357191 MEF2D myocyte enhancer factor 2D gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12357207 SHISAL2A shisa like 2A gene DOID:630 genetic disease ISO RGD:1601694 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357218 CLRN1 clarin 1 gene DOID:0050439 Usher syndrome ISO RGD:737108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Usher syndrome PMID:11524702|PMID:15521980|PMID:17407589|PMID:17893653|PMID:19753315|PMID:21675857|PMID:22952768|PMID:23304067|PMID:24033266|PMID:24498627|PMID:25472526|PMID:25741868|PMID:25743179|PMID:26338283|PMID:27460420|PMID:28224992|PMID:28492532|PMID:29545425|PMID:31097578|PMID:31836858|PMID:31963381|PMID:35481838|PMID:7407589 12357218 CLRN1 clarin 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:737108 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12357218 CLRN1 clarin 1 gene DOID:0110373 retinitis pigmentosa 61 ISO RGD:737108 D RGD:7240710 20180130 OMIM 12357218 CLRN1 clarin 1 gene DOID:0110373 retinitis pigmentosa 61 ISO RGD:737108 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 61 PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:16028794|PMID:17893653|PMID:18281613|PMID:19423712|PMID:19753315|PMID:21310491|PMID:22681893|PMID:22787034|PMID:22952768|PMID:23304067|PMID:24033266|PMID:25741868|PMID:26180195|PMID:26338283|PMID:28041643|PMID:28492532|PMID:30311386 12357218 CLRN1 clarin 1 gene DOID:0110828 Usher syndrome type 3 ISO RGD:737108 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Usher syndrome type 3 PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:15521980|PMID:16028794|PMID:17407589|PMID:17576681|PMID:17893653|PMID:18281613|PMID:19423712|PMID:19753315|PMID:20717163|PMID:21675857|PMID:22135276|PMID:22681893|PMID:22787034|PMID:22952768|PMID:23304067|PMID:24033266|PMID:24498627|PMID:24596593|PMID:25268133|PMID:25741868|PMID:25743179|PMID:26180195|PMID:26338283|PMID:27460420|PMID:27610647|PMID:28041643|PMID:28224992|PMID:28471114|PMID:28492532|PMID:29545425|PMID:30311386|PMID:31097578|PMID:31213501|PMID:31836858|PMID:31960602|PMID:31963381|PMID:35481838|PMID:7407589|PMID:9536098 12357218 CLRN1 clarin 1 gene DOID:0110841 Usher syndrome type 3A ISO RGD:737108 D RGD:7240710 20180130 OMIM 12357218 CLRN1 clarin 1 gene DOID:0110841 Usher syndrome type 3A ISO RGD:737108 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA | ClinVar Annotator: match by term: Usher syndrome type 3A PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:15521980|PMID:16028794|PMID:17407589|PMID:17893653|PMID:18281613|PMID:19423712|PMID:19753315|PMID:21310491|PMID:22135276|PMID:22681893|PMID:22787034|PMID:22952768|PMID:23304067|PMID:24033266|PMID:24498627|PMID:24596593|PMID:25268133|PMID:25741868|PMID:25743179|PMID:26180195|PMID:26338283|PMID:26467025|PMID:27460420|PMID:27610647|PMID:28041643|PMID:28224992|PMID:28471114|PMID:28492532|PMID:29545425|PMID:30311386|PMID:31097578|PMID:31213501|PMID:31836858|PMID:31960602|PMID:31963381|PMID:35481838|PMID:7407589 12357218 CLRN1 clarin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:737108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:15521980|PMID:16028794|PMID:18281613|PMID:19423712|PMID:19753315|PMID:20717163|PMID:22787034|PMID:23304067|PMID:24033266|PMID:24498627|PMID:24596593|PMID:25741868|PMID:26180195|PMID:27460420|PMID:28041643|PMID:28492532|PMID:30311386|PMID:30718709 12357218 CLRN1 clarin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:737108 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:15521980|PMID:16028794|PMID:17893653|PMID:18281613|PMID:19423712|PMID:19753315|PMID:20717163|PMID:22681893|PMID:22787034|PMID:22952768|PMID:23304067|PMID:24033266|PMID:24498627|PMID:24596593|PMID:25741868|PMID:26180195|PMID:26338283|PMID:27460420|PMID:28041643|PMID:28492532|PMID:30311386|PMID:30718709 12357218 CLRN1 clarin 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:737108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Melnick-Fraser syndrome PMID:28492532|PMID:30311386 12357218 CLRN1 clarin 1 gene DOID:630 genetic disease ISO RGD:737108 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12357218 CLRN1 clarin 1 gene DOID:8501 fundus dystrophy ISO RGD:737108 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:15521980|PMID:16028794|PMID:17893653|PMID:18281613|PMID:19423712|PMID:19753315|PMID:21310491|PMID:22787034|PMID:22952768|PMID:23304067|PMID:24033266|PMID:24498627|PMID:25741868|PMID:26180195|PMID:26338283|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29545425|PMID:31836858|PMID:31963381|PMID:35481838 12357218 CLRN1 clarin 1 gene DOID:9004538 Hearing Loss ISO RGD:737108 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:11524702|PMID:12145752|PMID:19753315|PMID:20717163|PMID:22681893|PMID:24033266|PMID:25741868|PMID:27460420|PMID:28492532|PMID:30311386 12357231 PPM1E protein phosphatase, Mg2+/Mn2+ dependent 1E gene DOID:0050436 mulibrey nanism ISO RGD:1350294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mulibrey nanism syndrome PMID:25741868 12357231 PPM1E protein phosphatase, Mg2+/Mn2+ dependent 1E gene DOID:0050777 Joubert syndrome ISO RGD:1350294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12357231 PPM1E protein phosphatase, Mg2+/Mn2+ dependent 1E gene DOID:630 genetic disease ISO RGD:1350294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357231 PPM1E protein phosphatase, Mg2+/Mn2+ dependent 1E gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 12357243 OR7G5 olfactory receptor family 7 subfamily G member 5 gene DOID:12849 autistic disorder ISO RGD:1350658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12357243 OR7G5 olfactory receptor family 7 subfamily G member 5 gene DOID:630 genetic disease ISO RGD:1350658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357252 SERP2 stress associated endoplasmic reticulum protein family member 2 gene DOID:630 genetic disease ISO RGD:1346471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357263 UBAP1L ubiquitin associated protein 1 like gene DOID:0110935 nemaline myopathy 6 ISO RGD:5476950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12357263 UBAP1L ubiquitin associated protein 1 like gene DOID:2717 Bloom syndrome ISO RGD:5476950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12357263 UBAP1L ubiquitin associated protein 1 like gene DOID:630 genetic disease ISO RGD:5476950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357263 UBAP1L ubiquitin associated protein 1 like gene DOID:9256 colorectal cancer ISO RGD:5476950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12357325 MMP14 matrix metallopeptidase 14 gene DOID:0060439 lysinuric protein intolerance ISO RGD:734118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12357325 MMP14 matrix metallopeptidase 14 gene DOID:0080696 Winchester syndrome ISO RGD:734118 D RGD:7240710 20180130 OMIM 12357325 MMP14 matrix metallopeptidase 14 gene DOID:0080696 Winchester syndrome ISO RGD:734118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Winchester syndrome PMID:22922033|PMID:25741868|PMID:4238825 12357325 MMP14 matrix metallopeptidase 14 gene DOID:10941 intracranial aneurysm ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:9724118|REF_RGD_ID:1582590 12357325 MMP14 matrix metallopeptidase 14 gene DOID:11713 diabetic angiopathy ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:12477149|REF_RGD_ID:1582581 12357325 MMP14 matrix metallopeptidase 14 gene DOID:12930 dilated cardiomyopathy ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:11034943|REF_RGD_ID:1582586 12357325 MMP14 matrix metallopeptidase 14 gene DOID:12930 dilated cardiomyopathy ISO RGD:734119 D RGD:9068941 20200609 RGD PMID:16037568|REF_RGD_ID:1582576 12357325 MMP14 matrix metallopeptidase 14 gene DOID:13001 carotid stenosis ISO RGD:734119 D RGD:9068941 20200609 RGD PMID:16147977|REF_RGD_ID:1582575 12357325 MMP14 matrix metallopeptidase 14 gene DOID:14004 thoracic aortic aneurysm ISO RGD:734118 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 12357325 MMP14 matrix metallopeptidase 14 gene DOID:14323 Marfan syndrome ISO RGD:734118 D RGD:9068941 20200609 RGD associated with thoracic aortic aneurysm;protein:increased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 12357325 MMP14 matrix metallopeptidase 14 gene DOID:2316 brain ischemia ISO RGD:620198 D RGD:9068941 20200609 RGD PMID:15963646|REF_RGD_ID:1582577 12357325 MMP14 matrix metallopeptidase 14 gene DOID:2349 arteriosclerosis ISO RGD:620198 D RGD:9068941 20200609 RGD PMID:12526080|REF_RGD_ID:1582580 12357325 MMP14 matrix metallopeptidase 14 gene DOID:2349 arteriosclerosis ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:10731924|PMID:12526080|REF_RGD_ID:1582580|REF_RGD_ID:1582588 12357325 MMP14 matrix metallopeptidase 14 gene DOID:2349 arteriosclerosis ISO RGD:734119 D RGD:9068941 20200609 RGD PMID:12526080|REF_RGD_ID:1582580 12357325 MMP14 matrix metallopeptidase 14 gene DOID:2671 transitional cell carcinoma ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:9751409|REF_RGD_ID:2314950 12357325 MMP14 matrix metallopeptidase 14 gene DOID:2986 IgA glomerulonephritis ISO RGD:620198 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:9848780|REF_RGD_ID:2314955 12357325 MMP14 matrix metallopeptidase 14 gene DOID:299 adenocarcinoma ISO RGD:734118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 12357325 MMP14 matrix metallopeptidase 14 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:734118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19661247 12357325 MMP14 matrix metallopeptidase 14 gene DOID:326 ischemia ISO RGD:620198 D RGD:9068941 20200609 RGD PMID:16077081|REF_RGD_ID:1582563 12357325 MMP14 matrix metallopeptidase 14 gene DOID:3459 breast carcinoma disease_progression ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:9158005|REF_RGD_ID:2314951 12357325 MMP14 matrix metallopeptidase 14 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:734118 D RGD:9068941 20220526 RGD protein:increased expression: esophagus PMID:24789592|REF_RGD_ID:152600903 12357325 MMP14 matrix metallopeptidase 14 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:620198 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney, macrophage PMID:10878552|REF_RGD_ID:2314954 12357325 MMP14 matrix metallopeptidase 14 gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:734118 D RGD:9068941 20210521 RGD DNA:SNP:5'utr: (rs2236302) (human) PMID:21472143|REF_RGD_ID:126925218 12357325 MMP14 matrix metallopeptidase 14 gene DOID:5844 myocardial infarction ISO RGD:620198 D RGD:9068941 20200609 RGD PMID:10773235|REF_RGD_ID:1582587 12357325 MMP14 matrix metallopeptidase 14 gene DOID:5844 myocardial infarction ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:16461815|REF_RGD_ID:1582569 12357325 MMP14 matrix metallopeptidase 14 gene DOID:6000 congestive heart failure disease_progression ISO RGD:620198 D RGD:9068941 20200609 RGD protein:increased expression:left ventricle (rat) PMID:10773235|REF_RGD_ID:1582587 12357325 MMP14 matrix metallopeptidase 14 gene DOID:630 genetic disease ISO RGD:734118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12357325 MMP14 matrix metallopeptidase 14 gene DOID:684 hepatocellular carcinoma ISO RGD:734118 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 12357325 MMP14 matrix metallopeptidase 14 gene DOID:7148 rheumatoid arthritis ISO RGD:734119 D RGD:9068941 20220825 MouseDO OMIM:180300 12357325 MMP14 matrix metallopeptidase 14 gene DOID:7693 abdominal aortic aneurysm ISO RGD:620198 D RGD:9068941 20200609 RGD PMID:15300177|REF_RGD_ID:1582579 12357325 MMP14 matrix metallopeptidase 14 gene DOID:7693 abdominal aortic aneurysm ISO RGD:734118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19010778 12357325 MMP14 matrix metallopeptidase 14 gene DOID:7693 abdominal aortic aneurysm ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:11877705|REF_RGD_ID:1582584 12357325 MMP14 matrix metallopeptidase 14 gene DOID:9000117 Esophageal Neoplasms ISO RGD:734118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 12357325 MMP14 matrix metallopeptidase 14 gene DOID:9000265 Specific Granule Deficiency ISO RGD:734118 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12357325 MMP14 matrix metallopeptidase 14 gene DOID:9002522 Embolism ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:15920147|REF_RGD_ID:1582578 12357325 MMP14 matrix metallopeptidase 14 gene DOID:9003871 Venous Thrombosis ISO RGD:734119 D RGD:9068941 20200609 RGD PMID:16171603|REF_RGD_ID:1582570 12357325 MMP14 matrix metallopeptidase 14 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:734118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 12357325 MMP14 matrix metallopeptidase 14 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:734118 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12357325 MMP14 matrix metallopeptidase 14 gene DOID:9005175 Ulcer ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:12452868|REF_RGD_ID:1582583 12357325 MMP14 matrix metallopeptidase 14 gene DOID:9005539 Familial Prostate Cancer ISO RGD:734118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12357325 MMP14 matrix metallopeptidase 14 gene DOID:9007188 Liver Neoplasms ISO RGD:734118 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 12357325 MMP14 matrix metallopeptidase 14 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:734118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23804419 12357325 MMP14 matrix metallopeptidase 14 gene DOID:9008527 Chlamydophila Infections ISO RGD:620198 D RGD:9068941 20200609 RGD PMID:12526080|REF_RGD_ID:1582580 12357325 MMP14 matrix metallopeptidase 14 gene DOID:9008527 Chlamydophila Infections ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:12526080|REF_RGD_ID:1582580 12357325 MMP14 matrix metallopeptidase 14 gene DOID:9008527 Chlamydophila Infections ISO RGD:734119 D RGD:9068941 20200609 RGD PMID:12526080|REF_RGD_ID:1582580 12357325 MMP14 matrix metallopeptidase 14 gene DOID:9008939 Breast Neoplasms ISO RGD:734118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 12357339 IL2RG interleukin 2 receptor subunit gamma gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:731533 D RGD:7240710 20190306 OMIM 12357339 IL2RG interleukin 2 receptor subunit gamma gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:731533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:10444186|PMID:10784449|PMID:10792291|PMID:10794430|PMID:10794431|PMID:11129345|PMID:11213805|PMID:11260071|PMID:11874464|PMID:11961146|PMID:12070011|PMID:12126929|PMID:14722921|PMID:14966353|PMID:16199547|PMID:16227049|PMID:16293754|PMID:16760466|PMID:17576681|PMID:17598841|PMID:18615703|PMID:18641513|PMID:18728247|PMID:18941169|PMID:19398866|PMID:20301584|PMID:21184155|PMID:21732012|PMID:21865537|PMID:22039266|PMID:23374275|PMID:23683512|PMID:24534054|PMID:24612091|PMID:25042067|PMID:25326637|PMID:25741868|PMID:25843602|PMID:25869287|PMID:26525228|PMID:26547715|PMID:27484032|PMID:27566612|PMID:28109013|PMID:28359783|PMID:28492532|PMID:28747913|PMID:29658452|PMID:2984567|PMID:29948574|PMID:30622570|PMID:30778380|PMID:30850927|PMID:31024866|PMID:31799703|PMID:31965297|PMID:32265911|PMID:32499645|PMID:32888943|PMID:33412294|PMID:33628209|PMID:7557965|PMID:7632950|PMID:7668284|PMID:7860773|PMID:7883965|PMID:7973658|PMID:8027558|PMID:8088810|PMID:8298124|PMID:8299698|PMID:8401490|PMID:8462096|PMID:8522327|PMID:8541866|PMID:8557662|PMID:8605324|PMID:8712778|PMID:8781427|PMID:8900089|PMID:8961626|PMID:9049783|PMID:9058718|PMID:9150730|PMID:9150740|PMID:9399950|PMID:9536098|PMID:9633906|PMID:9885222 12357339 IL2RG interleukin 2 receptor subunit gamma gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12357339 IL2RG interleukin 2 receptor subunit gamma gene DOID:0080600 COVID-19 severity ISO RGD:731533 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32297828|REF_RGD_ID:32716368 12357339 IL2RG interleukin 2 receptor subunit gamma gene DOID:12849 autistic disorder ISO RGD:731533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12357339 IL2RG interleukin 2 receptor subunit gamma gene DOID:627 severe combined immunodeficiency ISO RGD:731533 D RGD:9068941 20200609 RGD X-linked SCID, OMIM:300400 PMID:7557965|REF_RGD_ID:1600009 12357339 IL2RG interleukin 2 receptor subunit gamma gene DOID:628 combined T cell and B cell immunodeficiency IAGP D RGD:12801476 20211229 OMIA Severe combined immunodeficiency disease, X-linked PMID:22704516|PMID:24130776|PMID:32017983|PMID:31878988|PMID:31722780|PMID:33840678|PMID:27809915|PMID:31754342|PMID:32871045 12357339 IL2RG interleukin 2 receptor subunit gamma gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:731533 D RGD:7240710 20180130 OMIM 12357339 IL2RG interleukin 2 receptor subunit gamma gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:731533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency, X-linked PMID:10792291|PMID:10794430|PMID:10794431|PMID:11129345|PMID:12126929|PMID:14966353|PMID:16199547|PMID:16227049|PMID:18641513|PMID:20301584|PMID:21184155|PMID:22039266|PMID:23683512|PMID:24534054|PMID:25042067|PMID:25741868|PMID:25869287|PMID:28492532|PMID:28747913|PMID:29948574|PMID:30622570|PMID:30778380|PMID:31799703|PMID:31965297|PMID:32499645|PMID:33628209|PMID:7557965|PMID:7632950|PMID:7668284|PMID:7883965|PMID:7973658|PMID:8088810|PMID:9049783|PMID:9058718|PMID:9399950|PMID:9633906 12357339 IL2RG interleukin 2 receptor subunit gamma gene DOID:630 genetic disease ISO RGD:731533 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10794431|PMID:16227049|PMID:20301584|PMID:23683512|PMID:25042067|PMID:25741868|PMID:28492532|PMID:29948574|PMID:31965297|PMID:7557965|PMID:7668284|PMID:9399950 12357339 IL2RG interleukin 2 receptor subunit gamma gene DOID:8541 Sezary's disease ISO RGD:731533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 12357339 IL2RG interleukin 2 receptor subunit gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12357339 IL2RG interleukin 2 receptor subunit gamma gene DOID:9004654 Immune Deficiency Disease ISO RGD:621466 D RGD:9068941 20200609 RGD PMID:29688994|REF_RGD_ID:13628403 12357339 IL2RG interleukin 2 receptor subunit gamma gene DOID:9007898 FG Syndrome 1 ISO RGD:731533 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 12357355 SELE selectin E gene DOID:0060224 atrial fibrillation ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17890461 12357355 SELE selectin E gene DOID:0080600 COVID-19 ISO RGD:736831 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 12357355 SELE selectin E gene DOID:0080600 COVID-19 severity ISO RGD:736831 D RGD:9068941 20200626 RGD mRNA,protein:increased expression:plasma (human) PMID:32458111|REF_RGD_ID:32716385 12357355 SELE selectin E gene DOID:1287 cardiovascular system disease ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16332659|PMID:16544732 12357355 SELE selectin E gene DOID:1540 parathyroid carcinoma ISO RGD:736831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12357355 SELE selectin E gene DOID:1555 urticaria ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12121561 12357355 SELE selectin E gene DOID:2316 brain ischemia ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17394460 12357355 SELE selectin E gene DOID:2316 brain ischemia ISO RGD:736831 D RGD:9068941 20200609 RGD associated with Hypertension PMID:19107136|REF_RGD_ID:2313600 12357355 SELE selectin E gene DOID:2377 multiple sclerosis ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20175758 12357355 SELE selectin E gene DOID:2986 IgA glomerulonephritis ISO RGD:736831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: IgA nephropathy, susceptibility to PMID:11828340|PMID:16282702 12357355 SELE selectin E gene DOID:3042 allergic contact dermatitis ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17597826 12357355 SELE selectin E gene DOID:3310 atopic dermatitis ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12410700 12357355 SELE selectin E gene DOID:3393 coronary artery disease ISO RGD:736831 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Coronary artery disease PMID:25741868 12357355 SELE selectin E gene DOID:3393 coronary artery disease susceptibility ISO RGD:736831 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:mutation: :p.S128R (human) PMID:17578587|REF_RGD_ID:2313596 12357355 SELE selectin E gene DOID:630 genetic disease ISO RGD:736831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357355 SELE selectin E gene DOID:6713 cerebrovascular disease ISO RGD:736831 D RGD:9068941 20200609 RGD DNA:polymorphism: :561A>C (p.S128R) (human) PMID:16843446|REF_RGD_ID:2313597 12357355 SELE selectin E gene DOID:820 myocarditis ISO RGD:11283 D RGD:9068941 20200609 RGD PMID:22268115|REF_RGD_ID:13702908 12357355 SELE selectin E gene DOID:848 arthritis ISO RGD:11283 D RGD:9068941 20200609 RGD PMID:16207337|REF_RGD_ID:1580041 12357355 SELE selectin E gene DOID:8481 rheumatic myocarditis severity ISO RGD:736831 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22987107|REF_RGD_ID:13702907 12357355 SELE selectin E gene DOID:9000808 Hypercholesterolemia ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14602771 12357355 SELE selectin E gene DOID:9000998 Brain Injuries ISO RGD:3654 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19107536|REF_RGD_ID:2313599 12357355 SELE selectin E gene DOID:9004009 Reperfusion Injury ISO RGD:3654 D RGD:9068941 20200609 RGD PMID:19489247|REF_RGD_ID:2313598 12357355 SELE selectin E gene DOID:9004009 Reperfusion Injury ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17112405|PMID:23743330 12357355 SELE selectin E gene DOID:9007102 Myocardial Ischemia ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12357355 SELE selectin E gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:736831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12357355 SELE selectin E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12357355 SELE selectin E gene DOID:9744 type 1 diabetes mellitus ISO RGD:736831 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18791689|REF_RGD_ID:2313595 12357376 HIPK1 homeodomain interacting protein kinase 1 gene DOID:0080690 RASopathy ISO RGD:1312671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12357376 HIPK1 homeodomain interacting protein kinase 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1312671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 12357376 HIPK1 homeodomain interacting protein kinase 1 gene DOID:630 genetic disease ISO RGD:1312671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357376 HIPK1 homeodomain interacting protein kinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12357413 ATL3 atlastin GTPase 3 gene DOID:0070154 hereditary sensory neuropathy type 1F ISO RGD:1601766 D RGD:7240710 20180130 OMIM 12357413 ATL3 atlastin GTPase 3 gene DOID:0070154 hereditary sensory neuropathy type 1F ISO RGD:1601766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type 1F PMID:16199547|PMID:17576681|PMID:24459106|PMID:24736309|PMID:25741868|PMID:28492532|PMID:30680846|PMID:9536098 12357413 ATL3 atlastin GTPase 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1601766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12357413 ATL3 atlastin GTPase 3 gene DOID:10283 prostate cancer ISO RGD:1601766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12357413 ATL3 atlastin GTPase 3 gene DOID:1059 intellectual disability ISO RGD:1601766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12357413 ATL3 atlastin GTPase 3 gene DOID:2843 long QT syndrome ISO RGD:1601766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12357413 ATL3 atlastin GTPase 3 gene DOID:630 genetic disease ISO RGD:1601766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12357441 SPOPL speckle type BTB/POZ protein like gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1605812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 12357441 SPOPL speckle type BTB/POZ protein like gene DOID:630 genetic disease ISO RGD:1605812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357459 RBM17 RNA binding motif protein 17 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1322546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12357459 RBM17 RNA binding motif protein 17 gene DOID:5419 schizophrenia ISO RGD:1322546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12357459 RBM17 RNA binding motif protein 17 gene DOID:630 genetic disease ISO RGD:1322546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357459 RBM17 RNA binding motif protein 17 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1322546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18337722 12357481 SERF2 small EDRK-rich factor 2 gene DOID:2717 Bloom syndrome ISO RGD:1344606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12357481 SERF2 small EDRK-rich factor 2 gene DOID:630 genetic disease ISO RGD:1344606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357481 SERF2 small EDRK-rich factor 2 gene DOID:9256 colorectal cancer ISO RGD:1344606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12357491 PTTG1 PTTG1 regulator of sister chromatid separation, securin gene DOID:12894 Sjogren's syndrome ISO RGD:68511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 12357491 PTTG1 PTTG1 regulator of sister chromatid separation, securin gene DOID:630 genetic disease ISO RGD:68511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357491 PTTG1 PTTG1 regulator of sister chromatid separation, securin gene DOID:684 hepatocellular carcinoma ISO RGD:68511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12357491 PTTG1 PTTG1 regulator of sister chromatid separation, securin gene DOID:8893 psoriasis ISO RGD:68511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953187 12357491 PTTG1 PTTG1 regulator of sister chromatid separation, securin gene DOID:9002234 Pituitary Neoplasms ISO RGD:68359 D RGD:9068941 20200609 RGD PMID:9092795|REF_RGD_ID:68295 12357504 NSUN5 NOP2/Sun RNA methyltransferase 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1319518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12357504 NSUN5 NOP2/Sun RNA methyltransferase 5 gene DOID:10923 sickle cell anemia ISO RGD:1319518 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12357504 NSUN5 NOP2/Sun RNA methyltransferase 5 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1319518 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 12357504 NSUN5 NOP2/Sun RNA methyltransferase 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12357504 NSUN5 NOP2/Sun RNA methyltransferase 5 gene DOID:630 genetic disease ISO RGD:1319518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357504 NSUN5 NOP2/Sun RNA methyltransferase 5 gene DOID:8445 intestinal volvulus ISO RGD:1319518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12357504 NSUN5 NOP2/Sun RNA methyltransferase 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12357504 NSUN5 NOP2/Sun RNA methyltransferase 5 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1319518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12357519 ASH1L ASH1 like histone lysine methyltransferase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1314918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12357519 ASH1L ASH1 like histone lysine methyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:1314918 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12357519 ASH1L ASH1 like histone lysine methyltransferase gene DOID:0080231 autosomal dominant intellectual developmental disorder 52 ISO RGD:1314918 D RGD:7240710 20190315 OMIM 12357519 ASH1L ASH1 like histone lysine methyltransferase gene DOID:0080231 autosomal dominant intellectual developmental disorder 52 ISO RGD:1314918 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ASH1L-Related Disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 52 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 52 PMID:23033978|PMID:25363760|PMID:25741868|PMID:25961944|PMID:27824329|PMID:28191889|PMID:28394464|PMID:28492532|PMID:29276005 12357519 ASH1L ASH1 like histone lysine methyltransferase gene DOID:0111940 immunodeficiency 42 ISO RGD:1314918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12357519 ASH1L ASH1 like histone lysine methyltransferase gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12357519 ASH1L ASH1 like histone lysine methyltransferase gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314918 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12357519 ASH1L ASH1 like histone lysine methyltransferase gene DOID:1059 intellectual disability ISO RGD:1314918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12357519 ASH1L ASH1 like histone lysine methyltransferase gene DOID:1540 parathyroid carcinoma ISO RGD:1314918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12357519 ASH1L ASH1 like histone lysine methyltransferase gene DOID:1826 epilepsy ISO RGD:1314918 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12357519 ASH1L ASH1 like histone lysine methyltransferase gene DOID:5812 MHC class II deficiency ISO RGD:1314918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12357519 ASH1L ASH1 like histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1314918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30564305 12357519 ASH1L ASH1 like histone lysine methyltransferase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 12357519 ASH1L ASH1 like histone lysine methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12357519 ASH1L ASH1 like histone lysine methyltransferase gene DOID:9007188 Liver Neoplasms ISO RGD:1314918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27064257 12357519 ASH1L ASH1 like histone lysine methyltransferase gene DOID:9008086 Developmental Disabilities ISO RGD:1314918 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12357519 ASH1L ASH1 like histone lysine methyltransferase gene DOID:9008582 Developmental Disease ISO RGD:1314918 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12357519 ASH1L ASH1 like histone lysine methyltransferase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12357559 KPNA2 karyopherin subunit alpha 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1344039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12357559 KPNA2 karyopherin subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1344039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357559 KPNA2 karyopherin subunit alpha 2 gene DOID:9006205 Animal Disease Models ISO RGD:1344039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12357577 MBNL3 muscleblind like splicing regulator 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12357577 MBNL3 muscleblind like splicing regulator 3 gene DOID:12849 autistic disorder ISO RGD:1603984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12357577 MBNL3 muscleblind like splicing regulator 3 gene DOID:630 genetic disease ISO RGD:1603984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357617 TAPBP TAP binding protein gene DOID:0050553 JMP syndrome ISO RGD:735382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12357617 TAPBP TAP binding protein gene DOID:0060009 MHC class I deficiency ISO RGD:735382 D RGD:7240710 20180130 OMIM 12357617 TAPBP TAP binding protein gene DOID:0060009 MHC class I deficiency ISO RGD:735382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MHC class I deficiency PMID:12149238|PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 12357617 TAPBP TAP binding protein gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:735382 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 12357617 TAPBP TAP binding protein gene DOID:627 severe combined immunodeficiency ISO RGD:735382 D RGD:9068941 20200609 RGD type I bare lymphocyte syndrome, OMIM:604571 PMID:12149238|REF_RGD_ID:1599296 12357617 TAPBP TAP binding protein gene DOID:630 genetic disease ISO RGD:735382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12357630 SDHAF1 succinate dehydrogenase complex assembly factor 1 gene DOID:0060537 mitochondrial complex II deficiency ISO RGD:2307455 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Succinate CoQ reductase deficiency PMID:25741868|PMID:26642834|PMID:26749241|PMID:28492532|PMID:33162331 12357630 SDHAF1 succinate dehydrogenase complex assembly factor 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:2307455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12357630 SDHAF1 succinate dehydrogenase complex assembly factor 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:2307455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12357630 SDHAF1 succinate dehydrogenase complex assembly factor 1 gene DOID:630 genetic disease ISO RGD:2307455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12357630 SDHAF1 succinate dehydrogenase complex assembly factor 1 gene DOID:8725 vascular dementia ISO RGD:2307455 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19465911 12357630 SDHAF1 succinate dehydrogenase complex assembly factor 1 gene DOID:9003055 Mitochondrial Complex II Deficiency Nuclear Type 1 ISO RGD:2307455 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 PMID:25741868|PMID:26642834|PMID:26749241|PMID:28492532|PMID:33162331 12357630 SDHAF1 succinate dehydrogenase complex assembly factor 1 gene DOID:9008405 Mitochondrial Complex II Deficiency Nuclear Type 2 ISO RGD:2307455 D RGD:7240710 20210203 OMIM 12357630 SDHAF1 succinate dehydrogenase complex assembly factor 1 gene DOID:9008405 Mitochondrial Complex II Deficiency Nuclear Type 2 ISO RGD:2307455 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2 PMID:12112045|PMID:16737791|PMID:19465911|PMID:22995659|PMID:25741868|PMID:26642834|PMID:26749241|PMID:28492532|PMID:31130284|PMID:33162331 12357635 KIRREL2 kirre like nephrin family adhesion molecule 2 gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1318234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:11317351|PMID:11854170|PMID:12039988|PMID:15338398|PMID:15906409|PMID:18436095|PMID:18503012|PMID:19406966|PMID:20172850|PMID:20507940|PMID:22584503|PMID:23949594|PMID:25741868|PMID:26467025|PMID:27594755|PMID:28117080|PMID:28476686|PMID:28492532|PMID:29127259|PMID:30963316|PMID:31216994|PMID:9660941|PMID:9915943 12357635 KIRREL2 kirre like nephrin family adhesion molecule 2 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1318234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12357635 KIRREL2 kirre like nephrin family adhesion molecule 2 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1318234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12357635 KIRREL2 kirre like nephrin family adhesion molecule 2 gene DOID:1184 nephrotic syndrome ISO RGD:1318234 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:11317351|PMID:11854170|PMID:12039988|PMID:18503012|PMID:20507940|PMID:22584503|PMID:25741868|PMID:28492532|PMID:29127259|PMID:30963316 12357635 KIRREL2 kirre like nephrin family adhesion molecule 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1318234 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:19406966|PMID:25741868|PMID:26467025|PMID:28492532 12357635 KIRREL2 kirre like nephrin family adhesion molecule 2 gene DOID:1826 epilepsy ISO RGD:1318234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 12357635 KIRREL2 kirre like nephrin family adhesion molecule 2 gene DOID:2590 familial nephrotic syndrome ISO RGD:1318234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital nephrotic syndrome PMID:18436095|PMID:19406966|PMID:25741868|PMID:26467025|PMID:28117080|PMID:28476686|PMID:28492532|PMID:31216994 12357635 KIRREL2 kirre like nephrin family adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1318234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12357654 PAX1 paired box 1 gene DOID:2907 Goldenhar syndrome ISO RGD:1350216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniofacial microsomia 12357654 PAX1 paired box 1 gene DOID:630 genetic disease ISO RGD:1350216 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12357654 PAX1 paired box 1 gene DOID:9002479 Otofaciocervical Syndrome 2 ISO RGD:1350216 D RGD:7240710 20180130 OMIM 12357654 PAX1 paired box 1 gene DOID:9002479 Otofaciocervical Syndrome 2 ISO RGD:1350216 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Otofaciocervical syndrome 2 PMID:1889089|PMID:23851939|PMID:25741868|PMID:28492532|PMID:28657137|PMID:29681087|PMID:32111619 12357654 PAX1 paired box 1 gene DOID:9002601 Otofaciocervical Syndrome 1 ISO RGD:1350216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12357662 MMP11 matrix metallopeptidase 11 gene DOID:0070045 Coffin-Siris syndrome 3 ISO RGD:735298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 12357662 MMP11 matrix metallopeptidase 11 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:735298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 12357662 MMP11 matrix metallopeptidase 11 gene DOID:1826 epilepsy ISO RGD:735298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12357662 MMP11 matrix metallopeptidase 11 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10741738 12357662 MMP11 matrix metallopeptidase 11 gene DOID:5419 schizophrenia ISO RGD:735298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12357662 MMP11 matrix metallopeptidase 11 gene DOID:630 genetic disease ISO RGD:735298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357662 MMP11 matrix metallopeptidase 11 gene DOID:9003281 Spontaneous Abortions ISO RGD:735298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12357679 VCPIP1 valosin containing protein interacting protein 1 gene DOID:3911 progeria ISO RGD:1552825 D RGD:9068941 20220825 MouseDO OMIM:176670 12357679 VCPIP1 valosin containing protein interacting protein 1 gene DOID:630 genetic disease ISO RGD:1604797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357686 SDC3 syndecan 3 gene DOID:630 genetic disease ISO RGD:1343030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357686 SDC3 syndecan 3 gene DOID:9970 obesity ISO RGD:1343030 D RGD:7240710 20180130 OMIM 12357686 SDC3 syndecan 3 gene DOID:9970 obesity ISO RGD:1343030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity, association with PMID:17018662 12357698 PAQR7 progestin and adipoQ receptor family member 7 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1606437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 12357698 PAQR7 progestin and adipoQ receptor family member 7 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1606437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12357698 PAQR7 progestin and adipoQ receptor family member 7 gene DOID:630 genetic disease ISO RGD:1606437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357705 ANKAR ankyrin and armadillo repeat containing gene DOID:0111944 immunodeficiency 31B ISO RGD:1603564 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 12357705 ANKAR ankyrin and armadillo repeat containing gene DOID:630 genetic disease ISO RGD:1603564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357705 ANKAR ankyrin and armadillo repeat containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12357733 MPZL2 myelin protein zero like 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1316244 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12357733 MPZL2 myelin protein zero like 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1316244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12357733 MPZL2 myelin protein zero like 2 gene DOID:0080690 RASopathy ISO RGD:1316244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12357733 MPZL2 myelin protein zero like 2 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1316244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12357733 MPZL2 myelin protein zero like 2 gene DOID:0110651 long QT syndrome 10 ISO RGD:1316244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12357733 MPZL2 myelin protein zero like 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1316244 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12357733 MPZL2 myelin protein zero like 2 gene DOID:0111640 autosomal recessive nonsyndromic deafness 111 ISO RGD:1316244 D RGD:7240710 20190315 OMIM 12357733 MPZL2 myelin protein zero like 2 gene DOID:0111640 autosomal recessive nonsyndromic deafness 111 ISO RGD:1316244 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 111 PMID:25741868|PMID:28492532|PMID:29961571|PMID:29982980|PMID:30311386|PMID:35802133|PMID:36633841 12357733 MPZL2 myelin protein zero like 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:1316244 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12357733 MPZL2 myelin protein zero like 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:1316244 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12357733 MPZL2 myelin protein zero like 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:1316244 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12357733 MPZL2 myelin protein zero like 2 gene DOID:1059 intellectual disability ISO RGD:1316244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12357733 MPZL2 myelin protein zero like 2 gene DOID:630 genetic disease ISO RGD:1316244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357733 MPZL2 myelin protein zero like 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1316244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12357733 MPZL2 myelin protein zero like 2 gene DOID:9007661 Dwarfism ISO RGD:1316244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12357743 ARK2C arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C gene DOID:0060356 Vici syndrome ISO RGD:1343595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 12357743 ARK2C arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C gene DOID:0080600 COVID-19 ISO RGD:1343595 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12357743 ARK2C arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C gene DOID:1059 intellectual disability ISO RGD:1343595 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12357743 ARK2C arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C gene DOID:630 genetic disease ISO RGD:1343595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357743 ARK2C arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1343595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 12357753 ARHGEF25 Rho guanine nucleotide exchange factor 25 gene DOID:10283 prostate cancer ISO RGD:1601833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12357753 ARHGEF25 Rho guanine nucleotide exchange factor 25 gene DOID:607 paraplegia ISO RGD:1601833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12357753 ARHGEF25 Rho guanine nucleotide exchange factor 25 gene DOID:630 genetic disease ISO RGD:1601833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357753 ARHGEF25 Rho guanine nucleotide exchange factor 25 gene DOID:6846 familial melanoma ISO RGD:1601833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 12357779 RPL26L1 ribosomal protein L26 like 1 gene DOID:0080600 COVID-19 ISO RGD:1352940 D RGD:9068941 20210604 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12357779 RPL26L1 ribosomal protein L26 like 1 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1352940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 12357779 RPL26L1 ribosomal protein L26 like 1 gene DOID:630 genetic disease ISO RGD:1352940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357779 RPL26L1 ribosomal protein L26 like 1 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:1352940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 12357787 BOLA3 bolA family member 3 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1606380 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12357787 BOLA3 bolA family member 3 gene DOID:0080134 multiple mitochondrial dysfunctions syndrome 2 ISO RGD:1606380 D RGD:7240710 20180130 OMIM 12357787 BOLA3 bolA family member 3 gene DOID:0080134 multiple mitochondrial dysfunctions syndrome 2 ISO RGD:1606380 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2 PMID:11156534|PMID:21944046|PMID:22562699|PMID:24334290|PMID:25741868|PMID:26741492|PMID:28492532|PMID:30302924 12357787 BOLA3 bolA family member 3 gene DOID:543 dystonia ISO RGD:1606380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12357787 BOLA3 bolA family member 3 gene DOID:630 genetic disease ISO RGD:1606380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12357787 BOLA3 bolA family member 3 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1606380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12357795 ZNF839 zinc finger protein 839 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1343787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12357795 ZNF839 zinc finger protein 839 gene DOID:630 genetic disease ISO RGD:1343787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357807 CAFA-T2R12 bitter taste receptor Cafa-T2R12 gene DOID:10283 prostate cancer ISO RGD:1349558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12357807 CAFA-T2R12 bitter taste receptor Cafa-T2R12 gene DOID:630 genetic disease ISO RGD:1349558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357814 CCDC154 coiled-coil domain containing 154 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:2299193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12357814 CCDC154 coiled-coil domain containing 154 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:2299193 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12357814 CCDC154 coiled-coil domain containing 154 gene DOID:0110942 autosomal recessive osteopetrosis 1 ISO RGD:1619887 D RGD:9068941 20220825 MouseDO OMIM:259700 12357814 CCDC154 coiled-coil domain containing 154 gene DOID:1826 epilepsy ISO RGD:2299193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12357814 CCDC154 coiled-coil domain containing 154 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:2299193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12357814 CCDC154 coiled-coil domain containing 154 gene DOID:630 genetic disease ISO RGD:2299193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1346227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:0080162 lupus nephritis ISO RGD:1332447 D RGD:9068941 20210528 RGD PMID:15681388|REF_RGD_ID:7240529 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1346227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:1037 lymphoid leukemia treatment ISO RGD:1346227 D RGD:9068941 20200609 RGD PMID:20705761|REF_RGD_ID:11344969 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:1227 neutropenia ISO RGD:1346227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10848805 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:12365 malaria ISO RGD:1346227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malaria, resistance to PMID:12115230|PMID:15459183|PMID:16115811|PMID:16170323|PMID:17435165|PMID:20385827 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:12365 malaria susceptibility ISO RGD:1346227 D RGD:7240710 20190502 OMIM 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:1540 parathyroid carcinoma ISO RGD:1346227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:1936 atherosclerosis ISO RGD:1332447 D RGD:9068941 20210528 RGD PMID:17053192|REF_RGD_ID:7240526 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:2237 hepatitis severity ISO RGD:1332447 D RGD:9068941 20210528 RGD PMID:17322382|REF_RGD_ID:11344954 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:2841 asthma ISO RGD:1332447 D RGD:9068941 20210528 RGD PMID:20179765|REF_RGD_ID:11344929 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:2921 glomerulonephritis ISO RGD:1346227 D RGD:9068941 20200609 RGD PMID:19640933|REF_RGD_ID:5508403 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:417 autoimmune disease ISO RGD:1332447 D RGD:9068941 20210528 RGD PMID:18390752|REF_RGD_ID:7240525 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:417 autoimmune disease ISO RGD:1346227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10848805 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:630 genetic disease ISO RGD:1346227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:783 end stage renal disease ISO RGD:1346227 D RGD:9068941 20200609 RGD PMID:15266033|REF_RGD_ID:7240530 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1346227 D RGD:9068941 20200609 RGD DNA:SNP: :p.I232T (human) PMID:19549396|REF_RGD_ID:11344927 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:8924 autoimmune thrombocytopenic purpura disease_progression ISO RGD:1346227 D RGD:9068941 20200609 RGD DNA:SNP: :p.I232T (human) PMID:15566359|REF_RGD_ID:11344928 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1332447 D RGD:9068941 20210528 RGD PMID:21045192|PMID:22257295|REF_RGD_ID:11344931|REF_RGD_ID:11344955 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1346227 D RGD:9068941 20200609 RGD PMID:21131591|REF_RGD_ID:11040933 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:9002457 Experimental Arthritis ISO RGD:1332447 D RGD:9068941 20210528 RGD PMID:23341540|REF_RGD_ID:11344930 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:9004610 Acute Lung Injury treatment ISO RGD:631331 D RGD:9068941 20200609 RGD PMID:19106808|REF_RGD_ID:5147925 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:9007398 Phospholipidosis ISO RGD:631331 D RGD:9068941 20200609 RGD mRNA:increased expression:heart, blood PMID:25580480|REF_RGD_ID:11344961 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:9074 systemic lupus erythematosus ISO RGD:1346227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:12115230|PMID:15459183|PMID:15895258|PMID:16115811|PMID:16170323|PMID:17435165|PMID:20385827 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:1346227 D RGD:9068941 20200609 RGD DNA:SNPs:exon, intron:10849T>C (rs1050501), 10950T>G (rs6666965) (human) PMID:26084639|REF_RGD_ID:11056171 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1346227 D RGD:9068941 20200609 RGD DNA:SNP:intron:11045G>T (rs12117530) (human) PMID:26084639|REF_RGD_ID:11056171 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1346227 D RGD:7240710 20230505 OMIM 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:9074 systemic lupus erythematosus treatment ISO RGD:1332447 D RGD:9068941 20210528 RGD PMID:18156625|PMID:20530521|REF_RGD_ID:9588566|REF_RGD_ID:9588603 12357850 FCGR2B Fc fragment of IgG receptor IIb gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12357904 P2RY14 purinergic receptor P2Y14 gene DOID:0050579 glycogen storage disease XV ISO RGD:1347256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12357904 P2RY14 purinergic receptor P2Y14 gene DOID:0080600 COVID-19 ISO RGD:1347256 D RGD:9068941 20210122 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12357904 P2RY14 purinergic receptor P2Y14 gene DOID:630 genetic disease ISO RGD:1347256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12357952 SEC61A1 SEC61 translocon subunit alpha 1 gene DOID:0050770 polycystic liver disease ISO RGD:1351813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 12357952 SEC61A1 SEC61 translocon subunit alpha 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1351813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:21670465|PMID:22147895|PMID:23223431|PMID:28492532 12357952 SEC61A1 SEC61 translocon subunit alpha 1 gene DOID:630 genetic disease ISO RGD:1351813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12357952 SEC61A1 SEC61 translocon subunit alpha 1 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1351813 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 12357952 SEC61A1 SEC61 translocon subunit alpha 1 gene DOID:9004877 Autosomal Dominant Tubulointerstitial Kidney Disease 5 ISO RGD:1351813 D RGD:7240710 20190315 OMIM 12357952 SEC61A1 SEC61 translocon subunit alpha 1 gene DOID:9004877 Autosomal Dominant Tubulointerstitial Kidney Disease 5 ISO RGD:1351813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 PMID:25741868|PMID:27392076|PMID:28492532|PMID:28782633 12357952 SEC61A1 SEC61 translocon subunit alpha 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 12357952 SEC61A1 SEC61 translocon subunit alpha 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1351813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:21670465|PMID:22147895|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532 12357952 SEC61A1 SEC61 translocon subunit alpha 1 gene DOID:9270 alkaptonuria ISO RGD:1351813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12357966 EPB41 erythrocyte membrane protein band 4.1 gene DOID:1909 melanoma ISO RGD:1605128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 12357966 EPB41 erythrocyte membrane protein band 4.1 gene DOID:2373 hereditary elliptocytosis ISO RGD:1605128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary elliptocytosis 12357966 EPB41 erythrocyte membrane protein band 4.1 gene DOID:583 hemolytic anemia ISO RGD:1557540 D RGD:9068941 20200609 RGD PMID:9927493|REF_RGD_ID:11252099 12357966 EPB41 erythrocyte membrane protein band 4.1 gene DOID:630 genetic disease ISO RGD:1605128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12357966 EPB41 erythrocyte membrane protein band 4.1 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1557540 D RGD:9068941 20200609 RGD PMID:9822582|REF_RGD_ID:11252098 12357966 EPB41 erythrocyte membrane protein band 4.1 gene DOID:9005732 Elliptocytosis 1 ISO RGD:1605128 D RGD:7240710 20180130 OMIM 12357966 EPB41 erythrocyte membrane protein band 4.1 gene DOID:9005732 Elliptocytosis 1 ISO RGD:1605128 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Elliptocytosis 1 PMID:1430200|PMID:21839655|PMID:2384597|PMID:2384598|PMID:25741868|PMID:27551681|PMID:27667160|PMID:28492532|PMID:3134067|PMID:3194408|PMID:33942936|PMID:3722387|PMID:3965051|PMID:6894932|PMID:7255153|PMID:7627190|PMID:8423235 12358054 ALLC allantoicase gene DOID:630 genetic disease ISO RGD:736731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12358070 ITSN2 intersectin 2 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1353883 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 12358070 ITSN2 intersectin 2 gene DOID:1184 nephrotic syndrome ISO RGD:1558192 D RGD:9068941 20220825 MouseDO 12358070 ITSN2 intersectin 2 gene DOID:12894 Sjogren's syndrome ISO RGD:1353883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 12358070 ITSN2 intersectin 2 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1353883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:25741868 12358070 ITSN2 intersectin 2 gene DOID:630 genetic disease ISO RGD:1353883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12358070 ITSN2 intersectin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12358070 ITSN2 intersectin 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1353883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 12358070 ITSN2 intersectin 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1353883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 12358149 KIF5C kinesin family member 5C gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1318371 D RGD:9068941 20200609 RGD mRNA:increased expression:frontal cortex, cerebellum (mouse) PMID:23006449|REF_RGD_ID:12798528 12358149 KIF5C kinesin family member 5C gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1318370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:19904302|PMID:21981781|PMID:23632792 12358149 KIF5C kinesin family member 5C gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1318370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23603762 12358149 KIF5C kinesin family member 5C gene DOID:0090133 complex cortical dysplasia with other brain malformations 2 ISO RGD:1318370 D RGD:7240710 20180130 OMIM 12358149 KIF5C kinesin family member 5C gene DOID:0090133 complex cortical dysplasia with other brain malformations 2 ISO RGD:1318370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 2 PMID:23033978|PMID:23603762|PMID:24088041|PMID:24812067|PMID:25741868|PMID:26633545 12358149 KIF5C kinesin family member 5C gene DOID:0110042 Alzheimer's disease 3 ISO RGD:1318370 D RGD:9068941 20200609 RGD protein:decreased expression:cerebellum (human) PMID:24569455|REF_RGD_ID:12859086 12358149 KIF5C kinesin family member 5C gene DOID:10907 microcephaly ISO RGD:1318370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23603762 12358149 KIF5C kinesin family member 5C gene DOID:127 leiomyoma ISO RGD:1318370 D RGD:9068941 20200609 RGD mRNA:increased expression:myometrium (human) PMID:20396563|REF_RGD_ID:12859089 12358149 KIF5C kinesin family member 5C gene DOID:5419 schizophrenia ISO RGD:1318370 D RGD:9068941 20200609 RGD DNA:snp:enhancer:T>C (rs10929935) (human) PMID:24581549|REF_RGD_ID:12859088 12358149 KIF5C kinesin family member 5C gene DOID:630 genetic disease ISO RGD:1318370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12358149 KIF5C kinesin family member 5C gene DOID:9008582 Developmental Disease ISO RGD:1318370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12358179 RBM45 RNA binding motif protein 45 gene DOID:630 genetic disease ISO RGD:730942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12358215 GPNMB glycoprotein nmb gene DOID:0060680 pigment dispersion syndrome ISO RGD:733525 D RGD:9068941 20220825 MouseDO OMIM:600510 12358215 GPNMB glycoprotein nmb gene DOID:0080600 COVID-19 ISO RGD:736300 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12358215 GPNMB glycoprotein nmb gene DOID:0080932 primary localized cutaneous amyloidosis 3 ISO RGD:736300 D RGD:7240710 20190315 OMIM 12358215 GPNMB glycoprotein nmb gene DOID:0080932 primary localized cutaneous amyloidosis 3 ISO RGD:736300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyloidosis, primary localized cutaneous, 3 PMID:19416385|PMID:25741868|PMID:25866143|PMID:28492532|PMID:29336782 12358215 GPNMB glycoprotein nmb gene DOID:3021 acute kidney failure ISO RGD:736300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23052191 12358215 GPNMB glycoprotein nmb gene DOID:3587 pancreatic ductal carcinoma ISO RGD:736300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24979617 12358215 GPNMB glycoprotein nmb gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12358215 GPNMB glycoprotein nmb gene DOID:630 genetic disease ISO RGD:736300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12358215 GPNMB glycoprotein nmb gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12358215 GPNMB glycoprotein nmb gene DOID:9004590 Acute Liver Failure ISO RGD:736300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15763343 12358215 GPNMB glycoprotein nmb gene DOID:9008443 Colorectal Neoplasms ISO RGD:736300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 12358215 GPNMB glycoprotein nmb gene DOID:9008939 Breast Neoplasms ISO RGD:736300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 12358230 MEN1 menin 1 gene DOID:0050891 adrenal cortical adenoma ISO RGD:736443 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adrenocortical adenoma PMID:10647896 12358230 MEN1 menin 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:736443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12358230 MEN1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:736443 D RGD:7240710 20180130 OMIM 12358230 MEN1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:736443 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:103196|PMID:10366412|PMID:10395230|PMID:10395246|PMID:10398160|PMID:10424788|PMID:10435055|PMID:10439966|PMID:10534569|PMID:10548885|PMID:10576763|PMID:10594843|PMID:10598193|PMID:10612827|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10660339|PMID:10664520|PMID:10664521|PMID:10715991|PMID:10730900|PMID:10759881|PMID:10762295|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10861493|PMID:10870030|PMID:10918183|PMID:10931102|PMID:10980535|PMID:10993647|PMID:11019489|PMID:11033760|PMID:11034102|PMID:11102994|PMID:11134142|PMID:11181266|PMID:11216636|PMID:11221882|PMID:11303512|PMID:11369988|PMID:11435815|PMID:11454510|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11765051|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12016470|PMID:12016472|PMID:12049533|PMID:12050235|PMID:12108687|PMID:12112656|PMID:12150335|PMID:12166655|PMID:12213668|PMID:12324758|PMID:12509449|PMID:12652570|PMID:12699448|PMID:12746426|PMID:12791038|PMID:12807514|PMID:14508515|PMID:14641000|PMID:14648742|PMID:14678300|PMID:14686752|PMID:14985373|PMID:15044367|PMID:15082967|PMID:15205994|PMID:15240620|PMID:15254225|PMID:15281352|PMID:15292304|PMID:15331604|PMID:15464422|PMID:15522929|PMID:15635078|PMID:15670192|PMID:15713725|PMID:15714081|PMID:15717658|PMID:15730416|PMID:15754732|PMID:15870131|PMID:15887103|PMID:16199547|PMID:16322378|PMID:16430712|PMID:16449969|PMID:16484744|PMID:16563611|PMID:16594911|PMID:16595707|PMID:16699310|PMID:16840830|PMID:17065424|PMID:17158764|PMID:17185897|PMID:17194968|PMID:17235589|PMID:17388795|PMID:17555499|PMID:17576681|PMID:17590169|PMID:17623761|PMID:17711922|PMID:17766710|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:18206547|PMID:18221402|PMID:18485119|PMID:18549467|PMID:18753103|PMID:18753104|PMID:18775714|PMID:19041010|PMID:19068082|PMID:19074834|PMID:19174080|PMID:19350320|PMID:19350420|PMID:19391077|PMID:19461164|PMID:19491073|PMID:19509103|PMID:19749796|PMID:19953642|PMID:20231234|PMID:20367983|PMID:20404349|PMID:20530095|PMID:20639902|PMID:20660572|PMID:20833329|PMID:20960638|PMID:21069576|PMID:21127195|PMID:21264250|PMID:21266030|PMID:21340156|PMID:21340165|PMID:21369528|PMID:21454242|PMID:21464564|PMID:21521296|PMID:21627674|PMID:21652691|PMID:21655742|PMID:21678021|PMID:21757704|PMID:21819486|PMID:21849858|PMID:21915802|PMID:21916912|PMID:21917868|PMID:22024364|PMID:22026581|PMID:22090276|PMID:22187299|PMID:22275377|PMID:22281890|PMID:22327296|PMID:22470073|PMID:22549346|PMID:22577108|PMID:22666734|PMID:22703879|PMID:22936661|PMID:22995991|PMID:23052745|PMID:23093699|PMID:23154721|PMID:23188049|PMID:23244744|PMID:23321498|PMID:23334809|PMID:23565397|PMID:23580576|PMID:23648481|PMID:23778871|PMID:23933118|PMID:24033266|PMID:24183932|PMID:24218143|PMID:24443791|PMID:24472025|PMID:24599222|PMID:24635524|PMID:24709560|PMID:24728327|PMID:24756045|PMID:24915123|PMID:24997771|PMID:25291050|PMID:25309600|PMID:25309785|PMID:25525159|PMID:25527055|PMID:25637381|PMID:25733923|PMID:25741868|PMID:25824098|PMID:26180530|PMID:26224587|PMID:26288158|PMID:26307114|PMID:26332594|PMID:26467025|PMID:26515642|PMID:26580448|PMID:26767918|PMID:26905068|PMID:27153395|PMID:27311764|PMID:27572829|PMID:27846313|PMID:27854218|PMID:27904855|PMID:28203045|PMID:28238068|PMID:28298337|PMID:28321559|PMID:28458907|PMID:28492532|PMID:28503312|PMID:2857681|PMID:28597079|PMID:28663159|PMID:28693130|PMID:28736585|PMID:28818680|PMID:28870973|PMID:28873162|PMID:28881068|PMID:28938468|PMID:28940393|PMID:28968916|PMID:29036195|PMID:29039523|PMID:29066490|PMID:29097378|PMID:29122330|PMID:29174091|PMID:29192238|PMID:29239255|PMID:29264567|PMID:29284071|PMID:29455199|PMID:29497973|PMID:29641532|PMID:29848728|PMID:29927501|PMID:30093976|PMID:30324798|PMID:30339208|PMID:30364322|PMID:30374176|PMID:30630164|PMID:30755392|PMID:30795813|PMID:30820182|PMID:30865533|PMID:30869828|PMID:31044390|PMID:31159747|PMID:31249555|PMID:31263451|PMID:31275768|PMID:31431315|PMID:31482957 12358230 MEN1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:736443 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:31658439|PMID:31737856|PMID:32130200|PMID:32190804|PMID:32299109|PMID:32761341|PMID:32901291|PMID:32909176|PMID:33101196|PMID:33125695|PMID:33471991|PMID:33632163|PMID:33840689|PMID:34183184|PMID:34313384|PMID:34515662|PMID:34939938|PMID:35268848|PMID:35407574|PMID:35941657|PMID:564891|PMID:6108714|PMID:6837595|PMID:9064485|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9241276|PMID:9329390|PMID:9354421|PMID:9361035|PMID:9407947|PMID:9439676|PMID:9458074|PMID:9463336|PMID:9498491|PMID:9506756|PMID:9536098|PMID:9540988|PMID:9554741|PMID:9564891|PMID:9666051|PMID:9671073|PMID:9671267|PMID:9681840|PMID:9681842|PMID:9683585|PMID:9709921|PMID:9709922|PMID:9709985|PMID:9792884|PMID:9820618|PMID:9832038|PMID:9843042|PMID:9888389|PMID:9893679|PMID:9929977|PMID:9935177|PMID:9989505 12358230 MEN1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 disease_progression ISO RGD:736444 D RGD:9068941 20200609 RGD DNA:deletion:exons PMID:19620250|REF_RGD_ID:2317293 12358230 MEN1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 no_association ISO RGD:3078 D RGD:9068941 20200609 RGD PMID:12036912|REF_RGD_ID:619590 12358230 MEN1 menin 1 gene DOID:10579 leukodystrophy ISO RGD:736443 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:12652570|PMID:23321498|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30755392|PMID:30869828|PMID:31431315|PMID:32130200|PMID:32761341|PMID:34313384|PMID:34939938 12358230 MEN1 menin 1 gene DOID:1059 intellectual disability ISO RGD:736443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12358230 MEN1 menin 1 gene DOID:11202 primary hyperparathyroidism ISO RGD:736443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperparathyroidism PMID:18775714|PMID:22703879|PMID:24997771|PMID:25741868|PMID:26467025|PMID:28492532|PMID:564891|PMID:9215689 12358230 MEN1 menin 1 gene DOID:11714 gestational diabetes ISO RGD:736444 D RGD:9068941 20200609 RGD PMID:17975067|REF_RGD_ID:2317319 12358230 MEN1 menin 1 gene DOID:13543 hyperparathyroidism ISO RGD:736443 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:10366412|PMID:10398160|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10715991|PMID:10759881|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10870030|PMID:10918183|PMID:10993647|PMID:11369988|PMID:11524904|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12150335|PMID:12166655|PMID:12324758|PMID:12652570|PMID:12746426|PMID:15205994|PMID:15254225|PMID:15281352|PMID:15464422|PMID:15635078|PMID:15670192|PMID:15754732|PMID:15887103|PMID:16322378|PMID:16563611|PMID:16595707|PMID:16699310|PMID:17065424|PMID:17235589|PMID:17555499|PMID:17590169|PMID:17623761|PMID:17879353|PMID:17953629|PMID:18221402|PMID:18549467|PMID:20833329|PMID:21521296|PMID:21819486|PMID:21849858|PMID:22024364|PMID:22187299|PMID:22703879|PMID:23093699|PMID:23321498|PMID:23334809|PMID:23933118|PMID:24033266|PMID:24728327|PMID:24997771|PMID:25309785|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26767918|PMID:27153395|PMID:28492532|PMID:28873162|PMID:30093976|PMID:30324798|PMID:30339208|PMID:30630164|PMID:30755392|PMID:30820182|PMID:30869828|PMID:31431315|PMID:31737856|PMID:32130200|PMID:32761341|PMID:33471991|PMID:34313384|PMID:34939938|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9354421|PMID:9407947|PMID:9439676|PMID:9463336|PMID:9683585|PMID:9709921|PMID:9820618|PMID:9888389|PMID:9935177 12358230 MEN1 menin 1 gene DOID:169 neuroendocrine tumor ISO RGD:736443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21252315 12358230 MEN1 menin 1 gene DOID:1793 pancreatic cancer ISO RGD:736443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17961653|PMID:21252315 12358230 MEN1 menin 1 gene DOID:1793 pancreatic cancer ISO RGD:736443 D RGD:9068941 20200609 RGD associated with Neuroendocrine Tumors; protein:increased expression:multiple organs PMID:17278096|REF_RGD_ID:2317340 12358230 MEN1 menin 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12358230 MEN1 menin 1 gene DOID:2394 ovarian cancer ISO RGD:736443 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:16563611|PMID:21819486|PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 12358230 MEN1 menin 1 gene DOID:2746 glycogen storage disease V ISO RGD:736443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12358230 MEN1 menin 1 gene DOID:3070 high grade glioma ISO RGD:736443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12358230 MEN1 menin 1 gene DOID:3125 multiple endocrine neoplasia ISO RGD:736443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Endocrine adenomatosis multiple | ClinVar Annotator: match by term: Multiple endocrine neoplasia PMID:10027401|PMID:10366412|PMID:10398160|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10664520|PMID:10715991|PMID:10759881|PMID:10762295|PMID:10856877|PMID:10870030|PMID:11369988|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11807402|PMID:12112656|PMID:12150335|PMID:12166655|PMID:12746426|PMID:15205994|PMID:15254225|PMID:15281352|PMID:15331604|PMID:15464422|PMID:15754732|PMID:15887103|PMID:16199547|PMID:16449969|PMID:16595707|PMID:16699310|PMID:17235589|PMID:17590169|PMID:17623761|PMID:17853334|PMID:17953629|PMID:18221402|PMID:21521296|PMID:21819486|PMID:22470073|PMID:22666734|PMID:22703879|PMID:23334809|PMID:24218143|PMID:24728327|PMID:24997771|PMID:25309785|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27153395|PMID:27846313|PMID:28492532|PMID:29036195|PMID:30324798|PMID:30339208|PMID:30364322|PMID:30869828|PMID:31737856|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9354421|PMID:9407947|PMID:9683585|PMID:9709921|PMID:9820618|PMID:9888389|PMID:9935177 12358230 MEN1 menin 1 gene DOID:3315 lipoma ISO RGD:736443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lipoma, somatic PMID:10576763|PMID:10594843|PMID:10664520|PMID:10856877|PMID:12112656|PMID:14641000|PMID:15635078|PMID:17065424|PMID:17623761|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:20833329|PMID:23093699|PMID:24033266|PMID:24599222|PMID:24915123|PMID:25309785|PMID:25741868|PMID:26467025|PMID:27572829|PMID:28492532|PMID:28870973|PMID:28968916|PMID:29036195|PMID:30324798|PMID:30795813|PMID:9103196|PMID:9215690|PMID:9463336|PMID:9498491|PMID:9671267|PMID:9683585 12358230 MEN1 menin 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:736443 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:19170121|REF_RGD_ID:2317294 12358230 MEN1 menin 1 gene DOID:3892 insulinoma ISO RGD:736443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17961653 12358230 MEN1 menin 1 gene DOID:3892 insulinoma ISO RGD:736444 D RGD:9068941 20200609 RGD DNA:deletion:exon PMID:20138042|REF_RGD_ID:2317288 12358230 MEN1 menin 1 gene DOID:3892 insulinoma ISO RGD:736444 D RGD:9068941 20200609 RGD DNA:deletions:exons PMID:19208834|REF_RGD_ID:2317310 12358230 MEN1 menin 1 gene DOID:3892 insulinoma disease_progression ISO RGD:736444 D RGD:9068941 20200609 RGD DNA:deletion:exon PMID:12941803|REF_RGD_ID:2317292 12358230 MEN1 menin 1 gene DOID:3948 adrenocortical carcinoma ISO RGD:736443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747642 12358230 MEN1 menin 1 gene DOID:5394 prolactinoma ISO RGD:736444 D RGD:9068941 20220825 MouseDO OMIM:600634 12358230 MEN1 menin 1 gene DOID:5574 vipoma ISO RGD:736443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17961653 12358230 MEN1 menin 1 gene DOID:5577 gastrinoma ISO RGD:736443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17961653 12358230 MEN1 menin 1 gene DOID:5577 gastrinoma ISO RGD:736443 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:15944766|REF_RGD_ID:2317354 12358230 MEN1 menin 1 gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:736443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Somatotroph adenoma PMID:30630164 12358230 MEN1 menin 1 gene DOID:630 genetic disease ISO RGD:736443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12358230 MEN1 menin 1 gene DOID:657 adenoma ISO RGD:736444 D RGD:9068941 20200609 RGD DNA:deletion:exons PMID:12917331|REF_RGD_ID:2317273 12358230 MEN1 menin 1 gene DOID:7608 parathyroid adenoma ISO RGD:736443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid adenoma, somatic PMID:12016472|PMID:20231234|PMID:28492532|PMID:9241276|PMID:9820618 12358230 MEN1 menin 1 gene DOID:769 neuroblastoma ISO RGD:736443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:25741868 12358230 MEN1 menin 1 gene DOID:7959 duodenal gastrinoma ISO RGD:736443 D RGD:9068941 20200609 RGD associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: : PMID:17135306|REF_RGD_ID:2317341 12358230 MEN1 menin 1 gene DOID:9000915 Angiofibroma ISO RGD:736443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angiofibroma, somatic PMID:9236523|PMID:9740255 12358230 MEN1 menin 1 gene DOID:9002211 Hyperalgesia ISO RGD:3078 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy;protein:increased expression:spinal cord dorsal horn (rat) PMID:20369282|REF_RGD_ID:9589142 12358230 MEN1 menin 1 gene DOID:9002234 Pituitary Neoplasms ISO RGD:736443 D RGD:9068941 20200609 RGD DNA, protein:mutations,polymorphisms, increased expression:Pituitary Gland PMID:12030908|REF_RGD_ID:2317360 12358230 MEN1 menin 1 gene DOID:9002928 Colonic Neoplasms severity ISO RGD:3078 D RGD:9068941 20200609 RGD PMID:15054094|REF_RGD_ID:1304318 12358230 MEN1 menin 1 gene DOID:9006608 Lung Carcinoid Tumors ISO RGD:736443 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lung carcinoid tumor PMID:11303512|PMID:11579199|PMID:12112656|PMID:12213668|PMID:15240620|PMID:15635078|PMID:15670192|PMID:17065424|PMID:17853334|PMID:17879353|PMID:19041010|PMID:21340156|PMID:22470073|PMID:23321498|PMID:24915123|PMID:25291050|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29036195|PMID:30324798|PMID:30339208|PMID:9215689|PMID:9361035|PMID:9463336 12358230 MEN1 menin 1 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:736443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial isolated hyperparathyroidism | ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:15292357|PMID:17623761|PMID:21819486|PMID:25741868|PMID:28492532 12358230 MEN1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:10366412|PMID:10395246|PMID:10398160|PMID:10439966|PMID:10576763|PMID:10594843|PMID:10598193|PMID:10612827|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10660339|PMID:10664520|PMID:10715991|PMID:10730900|PMID:10759881|PMID:10762295|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10870030|PMID:10918183|PMID:10931102|PMID:10980535|PMID:10993646|PMID:10993647|PMID:11134142|PMID:11221882|PMID:11303512|PMID:11369988|PMID:11454510|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11765051|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12016470|PMID:12049533|PMID:12050235|PMID:12108687|PMID:12112656|PMID:12150335|PMID:12166655|PMID:12213668|PMID:12324758|PMID:12368203|PMID:12509449|PMID:12652570|PMID:12699448|PMID:12746426|PMID:12791038|PMID:12807514|PMID:14508515|PMID:14641000|PMID:14678300|PMID:14985373|PMID:15044367|PMID:15205994|PMID:15240620|PMID:15254225|PMID:15281352|PMID:15331604|PMID:15464422|PMID:15522929|PMID:15635078|PMID:15670192|PMID:15714081|PMID:15717658|PMID:15730416|PMID:15754732|PMID:15887103|PMID:16199547|PMID:16430712|PMID:16449969|PMID:16484744|PMID:16563611|PMID:16595707|PMID:16699310|PMID:16840830|PMID:17065424|PMID:17158764|PMID:17194968|PMID:17235589|PMID:17555499|PMID:17576681|PMID:17590169|PMID:17623761|PMID:17711922|PMID:17766710|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:18221402|PMID:18549467|PMID:18753103|PMID:18753104|PMID:19041010|PMID:19068082|PMID:19074834|PMID:19461164|PMID:19491073|PMID:20660572|PMID:20833329|PMID:21127195|PMID:21264250|PMID:21340156|PMID:21521296|PMID:21757704|PMID:21819486|PMID:21849858|PMID:21917868|PMID:22026581|PMID:22090276|PMID:22187299|PMID:22275377|PMID:22327296|PMID:22470073|PMID:22549346|PMID:22577108|PMID:22666734|PMID:22703879|PMID:22936661|PMID:22995991|PMID:23052745|PMID:23093699|PMID:23154721|PMID:23321498|PMID:23565397|PMID:23648481|PMID:23933118|PMID:24033266|PMID:24218143|PMID:24472025|PMID:24599222|PMID:24635524|PMID:24709560|PMID:24728327|PMID:24915123|PMID:24997771|PMID:25291050|PMID:25309785|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25824098|PMID:26239674|PMID:26332594|PMID:26467025|PMID:26767918|PMID:26905068|PMID:27153395|PMID:27212590|PMID:27572829|PMID:27846313|PMID:28166811|PMID:28492532|PMID:2857681|PMID:28693130|PMID:28736585|PMID:28870973|PMID:28881068|PMID:28940393|PMID:28968916|PMID:29036195|PMID:29097378|PMID:29239255|PMID:29264567|PMID:29497973|PMID:29641532|PMID:30324798|PMID:30339208|PMID:30795813|PMID:30820182|PMID:30869828|PMID:31159747|PMID:31275768|PMID:31431315|PMID:31482957|PMID:31737856|PMID:6108714|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9241276|PMID:9329390|PMID:9354421|PMID:9361035|PMID:9407947|PMID:9439676|PMID:9463336|PMID:9498491|PMID:9506756|PMID:9536098|PMID:9554741|PMID:9671267|PMID:9683585|PMID:9709921|PMID:9709922|PMID:9709985|PMID:9820618|PMID:9832038|PMID:9888389|PMID:9935177|PMID:9989505 12358230 MEN1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:10366412|PMID:10398160|PMID:10576763|PMID:10594843|PMID:10598193|PMID:10612827|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10660339|PMID:10664520|PMID:10715991|PMID:10730900|PMID:10759881|PMID:10762295|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10870030|PMID:10918183|PMID:10980535|PMID:10993646|PMID:10993647|PMID:11134142|PMID:11221882|PMID:11303512|PMID:11369988|PMID:11454510|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11765051|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12016470|PMID:12049533|PMID:12050235|PMID:12112656|PMID:12150335|PMID:12166655|PMID:12213668|PMID:12324758|PMID:12368203|PMID:12509449|PMID:12652570|PMID:12699448|PMID:12746426|PMID:12791038|PMID:12807514|PMID:14508515|PMID:14641000|PMID:14678300|PMID:14985373|PMID:15044367|PMID:15205994|PMID:15240620|PMID:15254225|PMID:15281352|PMID:15331604|PMID:15464422|PMID:15522929|PMID:15635078|PMID:15670192|PMID:15714081|PMID:15717658|PMID:15730416|PMID:15754732|PMID:15887103|PMID:16199547|PMID:16322378|PMID:16430712|PMID:16449969|PMID:16484744|PMID:16563611|PMID:16595707|PMID:16699310|PMID:16840830|PMID:17065424|PMID:17158764|PMID:17194968|PMID:17235589|PMID:17555499|PMID:17576681|PMID:17590169|PMID:17623761|PMID:17711922|PMID:17766710|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:18221402|PMID:18549467|PMID:18753104|PMID:19041010|PMID:19068082|PMID:19074834|PMID:19461164|PMID:19491073|PMID:20660572|PMID:20833329|PMID:21127195|PMID:21264250|PMID:21340156|PMID:21521296|PMID:21757704|PMID:21819486|PMID:21849858|PMID:21917868|PMID:22024364|PMID:22026581|PMID:22090276|PMID:22187299|PMID:22275377|PMID:22327296|PMID:22470073|PMID:22549346|PMID:22577108|PMID:22666734|PMID:22703879|PMID:22936661|PMID:22995991|PMID:23052745|PMID:23093699|PMID:23154721|PMID:23321498|PMID:23334809|PMID:23565397|PMID:23648481|PMID:23933118|PMID:24033266|PMID:24472025|PMID:24599222|PMID:24635524|PMID:24709560|PMID:24728327|PMID:24915123|PMID:24997771|PMID:25291050|PMID:25309785|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25824098|PMID:26239674|PMID:26307114|PMID:26332594|PMID:26467025|PMID:26767918|PMID:26905068|PMID:27153395|PMID:27212590|PMID:27572829|PMID:28492532|PMID:2857681|PMID:28736585|PMID:28870973|PMID:28873162|PMID:28881068|PMID:28938468|PMID:28940393|PMID:28968916|PMID:29036195|PMID:29097378|PMID:29264567|PMID:29497973|PMID:29641532|PMID:30324798|PMID:30339208|PMID:30364322|PMID:30755392|PMID:30795813|PMID:30820182|PMID:30869828|PMID:31159747|PMID:31275768|PMID:31431315|PMID:31482957|PMID:31737856|PMID:32761341|PMID:33471991|PMID:34313384|PMID:6108714|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9241276|PMID:9329390|PMID:9354421|PMID:9361035|PMID:9407947|PMID:9439676|PMID:9463336|PMID:9498491|PMID:9506756|PMID:9536098|PMID:9554741|PMID:9671267|PMID:9683585|PMID:9709921|PMID:9709922|PMID:9709985|PMID:9820618|PMID:9888389|PMID:9935177|PMID:9989505 12358230 MEN1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:10366412|PMID:10398160|PMID:10424788|PMID:10435055|PMID:10534569|PMID:10576763|PMID:10594843|PMID:10598193|PMID:10612827|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10660339|PMID:10664520|PMID:10715991|PMID:10730900|PMID:10759881|PMID:10762295|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10861493|PMID:10870030|PMID:10918183|PMID:10980535|PMID:10993646|PMID:10993647|PMID:11134142|PMID:11221882|PMID:11303512|PMID:11369988|PMID:11454510|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11765051|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12016470|PMID:12049533|PMID:12050235|PMID:12112656|PMID:12150335|PMID:12166655|PMID:12213668|PMID:12324758|PMID:12368203|PMID:12509449|PMID:12652570|PMID:12699448|PMID:12746426|PMID:12791038|PMID:12807514|PMID:14508515|PMID:14641000|PMID:14678300|PMID:14985373|PMID:15044367|PMID:15205994|PMID:15240620|PMID:15254225|PMID:15281352|PMID:15292304|PMID:15292357|PMID:15331604|PMID:15464422|PMID:15522929|PMID:15635078|PMID:15670192|PMID:15714081|PMID:15717658|PMID:15730416|PMID:15754732|PMID:15870131|PMID:15887103|PMID:16199547|PMID:16322378|PMID:16430712|PMID:16449969|PMID:16484744|PMID:16563611|PMID:16595707|PMID:16699310|PMID:16840830|PMID:17065424|PMID:17158764|PMID:17194968|PMID:17235589|PMID:17555499|PMID:17576681|PMID:17590169|PMID:17623761|PMID:17711922|PMID:17766710|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:18084346|PMID:18206547|PMID:18221402|PMID:18549467|PMID:18753104|PMID:18775714|PMID:19041010|PMID:19068082|PMID:19074834|PMID:19461164|PMID:19491073|PMID:19509103|PMID:20231234|PMID:20660572|PMID:20833329|PMID:21127195|PMID:21264250|PMID:21340156|PMID:21340165|PMID:21369528|PMID:21521296|PMID:21678021|PMID:21757704|PMID:21819486|PMID:21849858|PMID:21917868|PMID:22024364|PMID:22026581|PMID:22090276|PMID:22187299|PMID:22275377|PMID:22327296|PMID:22470073|PMID:22549346|PMID:22577108|PMID:22666734|PMID:22703879|PMID:22936661|PMID:22995991|PMID:23052745|PMID:23056405|PMID:23093699|PMID:23154721|PMID:23244744|PMID:23321498|PMID:23334809|PMID:23565397|PMID:23648481|PMID:23778871|PMID:23933118|PMID:24033266|PMID:24472025|PMID:24599222|PMID:24635524|PMID:24709560|PMID:24728327|PMID:24915123|PMID:24997771|PMID:25291050|PMID:25309785|PMID:25525159|PMID:25527055|PMID:25637381|PMID:25733923|PMID:25741868|PMID:25824098|PMID:26239674|PMID:26288158|PMID:26307114|PMID:26332594|PMID:26424307|PMID:26467025|PMID:26580448|PMID:26767918|PMID:26905068|PMID:27153395|PMID:27212590|PMID:27311764|PMID:27572829|PMID:27846313|PMID:28166811|PMID:28238068|PMID:28321559|PMID:28492532|PMID:2857681|PMID:28736585|PMID:28870973|PMID:28873162|PMID:28881068|PMID:28938468|PMID:28940393|PMID:28968916|PMID:29036195|PMID:29039523|PMID:29097378|PMID:29192238|PMID:29264567|PMID:29284071|PMID:29497973|PMID:29641532|PMID:29927501|PMID:30093976|PMID:30324798|PMID:30339208|PMID:30364322|PMID:30755392|PMID:30795813|PMID:30820182|PMID:30865533|PMID:30869828|PMID:31044390|PMID:31159747|PMID:31249555|PMID:31275768|PMID:31431315|PMID:31482957|PMID:31737856|PMID:32761341|PMID:32901291|PMID:33125695|PMID:33471991|PMID:34183184|PMID:34313384|PMID:34515662|PMID:35941657|PMID:6108714|PMID:6837595|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9241276|PMID:9329390|PMID:9354421|PMID:9361035|PMID:9407947|PMID:9439676|PMID:9463336|PMID:9498491|PMID:9506756|PMID:9536098|PMID:9540988|PMID:9554741|PMID:9671267|PMID:9683585|PMID:9709921|PMID:9709922|PMID:9709976|PMID:9709985|PMID:9820618|PMID:9832038|PMID:9888389|PMID:9893679|PMID:9935177|PMID:9989505 12358230 MEN1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:103196|PMID:10366412|PMID:10398160|PMID:10424788|PMID:10435055|PMID:10439966|PMID:10534569|PMID:10548885|PMID:10576763|PMID:10594843|PMID:10598193|PMID:10612827|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10660339|PMID:10664520|PMID:10715991|PMID:10730900|PMID:10759881|PMID:10762295|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10861493|PMID:10870030|PMID:10918183|PMID:10931102|PMID:10980535|PMID:10993646|PMID:10993647|PMID:11019489|PMID:11033760|PMID:11134142|PMID:11181266|PMID:11221882|PMID:11302744|PMID:11303512|PMID:11369988|PMID:11454510|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11765051|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12016470|PMID:12049533|PMID:12050235|PMID:12108687|PMID:12112656|PMID:12145286|PMID:12150335|PMID:12166655|PMID:12213668|PMID:12324758|PMID:12368203|PMID:12509449|PMID:12652570|PMID:12699448|PMID:12746426|PMID:12791038|PMID:12807514|PMID:14508515|PMID:14641000|PMID:14678300|PMID:14985373|PMID:15044367|PMID:15205994|PMID:15240620|PMID:15254225|PMID:15281352|PMID:15292304|PMID:15292357|PMID:15331604|PMID:15464422|PMID:15522929|PMID:15635078|PMID:15670192|PMID:15714081|PMID:15717658|PMID:15730416|PMID:15754732|PMID:15870131|PMID:15887103|PMID:16199547|PMID:16322378|PMID:16430712|PMID:16449969|PMID:16484744|PMID:16563611|PMID:16595707|PMID:16699310|PMID:16840830|PMID:17065424|PMID:17158764|PMID:17194968|PMID:17235589|PMID:17388795|PMID:17555499|PMID:17576681|PMID:17590169|PMID:17623761|PMID:17711922|PMID:17766710|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:18084346|PMID:18206547|PMID:18221402|PMID:18485119|PMID:18549467|PMID:18753103|PMID:18753104|PMID:18775714|PMID:19041010|PMID:19068082|PMID:19074834|PMID:19461164|PMID:19491073|PMID:19509103|PMID:20231234|PMID:20660572|PMID:20833329|PMID:21127195|PMID:21264250|PMID:21340156|PMID:21340165|PMID:21369528|PMID:21521296|PMID:21678021|PMID:21757704|PMID:21819486|PMID:21849858|PMID:21917868|PMID:22024364|PMID:22026581|PMID:22090276|PMID:22187299|PMID:22275377|PMID:22327296|PMID:22470073|PMID:22549346|PMID:22577108|PMID:22666734|PMID:22703879|PMID:22936661|PMID:22995991|PMID:23052745|PMID:23056405|PMID:23093699|PMID:23154721|PMID:23244744|PMID:23321498|PMID:23334809|PMID:23565397|PMID:23648481|PMID:23778871|PMID:23933118|PMID:24033266|PMID:24183932|PMID:24218143|PMID:24472025|PMID:24599222|PMID:24635524|PMID:24709560|PMID:24728327|PMID:24915123|PMID:24997771|PMID:25291050|PMID:25309785|PMID:25525159|PMID:25527055|PMID:25637381|PMID:25733923|PMID:25741868|PMID:25824098|PMID:26180530|PMID:26239674|PMID:26288158|PMID:26307114|PMID:26332594|PMID:26424307|PMID:26467025|PMID:26515642|PMID:26580448|PMID:26767918|PMID:26905068|PMID:27153395|PMID:27212590|PMID:27311764|PMID:27572829|PMID:27846313|PMID:28238068|PMID:28298337|PMID:28321559|PMID:28492532|PMID:2857681|PMID:28693130|PMID:28736585|PMID:28870973|PMID:28873162|PMID:28881068|PMID:28938468|PMID:28940393|PMID:28968916|PMID:29036195|PMID:29039523|PMID:29097378|PMID:29192238|PMID:29239255|PMID:29264567|PMID:29284071|PMID:29497973|PMID:29641532|PMID:29927501|PMID:30093976|PMID:30324798|PMID:30339208|PMID:30364322|PMID:30755392|PMID:30795813|PMID:30820182|PMID:30865533|PMID:30869828|PMID:31044390|PMID:31159747|PMID:31249555|PMID:31263451|PMID:31275768|PMID:31431315|PMID:31482957|PMID:31737856|PMID:32130200|PMID:32241160|PMID:32761341|PMID:32901291|PMID:32909176|PMID:32937789|PMID:33101196|PMID:33125695|PMID:33471991|PMID:34183184|PMID:34313384|PMID:34515662|PMID:34939938|PMID:35268848|PMID:35323929|PMID:35941657|PMID:6108714|PMID:6837595|PMID:9064485|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9241276|PMID:9329390|PMID:9354421|PMID:9361035|PMID:9407947|PMID:9439676|PMID:9458074|PMID:9463336|PMID:9498491|PMID:9506756|PMID:9536098|PMID:9540988|PMID:9554741|PMID:9666051|PMID:9671073|PMID:9671267|PMID:9681840|PMID:9681842|PMID:9683585|PMID:9709921|PMID:9709922|PMID:9709976|PMID:9709985|PMID:9820618|PMID:9832038 12358230 MEN1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:9888389|PMID:9893679|PMID:9935177|PMID:9989505 12358230 MEN1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:103196|PMID:10366412|PMID:10395246|PMID:10398160|PMID:10424788|PMID:10435055|PMID:10439966|PMID:10534569|PMID:10548885|PMID:10576763|PMID:10594843|PMID:10598193|PMID:10612827|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10660339|PMID:10664520|PMID:10715991|PMID:10730900|PMID:10759881|PMID:10762295|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10861493|PMID:10870030|PMID:10918183|PMID:10931102|PMID:10980535|PMID:10993646|PMID:10993647|PMID:11019489|PMID:11033760|PMID:11134142|PMID:11181266|PMID:11221882|PMID:11302744|PMID:11303512|PMID:11369988|PMID:11454510|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11765051|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12016470|PMID:12049533|PMID:12050235|PMID:12108687|PMID:12112656|PMID:12145286|PMID:12150335|PMID:12166655|PMID:12213668|PMID:12324758|PMID:12368203|PMID:12509449|PMID:12652570|PMID:12699448|PMID:12746426|PMID:12791038|PMID:12807514|PMID:14508515|PMID:14641000|PMID:14678300|PMID:14985373|PMID:15044367|PMID:15205994|PMID:15240620|PMID:15254225|PMID:15281352|PMID:15292304|PMID:15292357|PMID:15331604|PMID:15464422|PMID:15522929|PMID:15635078|PMID:15670192|PMID:15714081|PMID:15717658|PMID:15730416|PMID:15754732|PMID:15870131|PMID:15887103|PMID:16199547|PMID:16322378|PMID:16430712|PMID:16449969|PMID:16484744|PMID:16563611|PMID:16595707|PMID:16699310|PMID:16794390|PMID:16840830|PMID:17065424|PMID:17158764|PMID:17194968|PMID:17235589|PMID:17388795|PMID:17555499|PMID:17576681|PMID:17590169|PMID:17623761|PMID:17711922|PMID:17766710|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:18084346|PMID:18206547|PMID:18221402|PMID:18485119|PMID:18549467|PMID:18753103|PMID:18753104|PMID:18775714|PMID:19041010|PMID:19068082|PMID:19074834|PMID:19461164|PMID:19491073|PMID:19509103|PMID:20231234|PMID:20660572|PMID:20833329|PMID:21127195|PMID:21264250|PMID:21340156|PMID:21340165|PMID:21369528|PMID:21521296|PMID:21655742|PMID:21678021|PMID:21757704|PMID:21819486|PMID:21849858|PMID:21917868|PMID:22024364|PMID:22026581|PMID:22090276|PMID:22187299|PMID:22275377|PMID:22327296|PMID:22470073|PMID:22549346|PMID:22577108|PMID:22666734|PMID:22703879|PMID:22936661|PMID:22995991|PMID:23052745|PMID:23056405|PMID:23093699|PMID:23154721|PMID:23244744|PMID:23321498|PMID:23334809|PMID:23565397|PMID:23648481|PMID:23778871|PMID:23933118|PMID:24033266|PMID:24183932|PMID:24218143|PMID:24472025|PMID:24599222|PMID:24635524|PMID:24709560|PMID:24728327|PMID:24915123|PMID:24997771|PMID:25291050|PMID:25309785|PMID:25525159|PMID:25527055|PMID:25637381|PMID:25733923|PMID:25741868|PMID:25824098|PMID:26180530|PMID:26239674|PMID:26288158|PMID:26307114|PMID:26332594|PMID:26424307|PMID:26467025|PMID:26515642|PMID:26580448|PMID:26767918|PMID:26905068|PMID:27153395|PMID:27212590|PMID:27311764|PMID:27572829|PMID:27846313|PMID:27854218|PMID:28238068|PMID:28298337|PMID:28321559|PMID:28492532|PMID:2857681|PMID:28693130|PMID:28736585|PMID:28870973|PMID:28873162|PMID:28881068|PMID:28938468|PMID:28940393|PMID:28968916|PMID:29036195|PMID:29039523|PMID:29097378|PMID:29192238|PMID:29239255|PMID:29264567|PMID:29284071|PMID:29497973|PMID:29641532|PMID:29927501|PMID:30032405|PMID:30093976|PMID:30324798|PMID:30339208|PMID:30364322|PMID:30755392|PMID:30795813|PMID:30820182|PMID:30865533|PMID:30869828|PMID:31044390|PMID:31159747|PMID:31249555|PMID:31263451|PMID:31275768|PMID:31431315|PMID:31482957|PMID:31737856|PMID:32130200|PMID:32241160|PMID:32761341|PMID:32901291|PMID:32909176|PMID:32937789|PMID:33101196|PMID:33125695|PMID:33471991|PMID:34183184|PMID:34313384|PMID:34515662|PMID:34939938|PMID:35268848|PMID:35323929|PMID:35941657|PMID:6108714|PMID:6837595|PMID:9064485|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9241276|PMID:9329390|PMID:9354421|PMID:9361035|PMID:9407947|PMID:9439676|PMID:9458074|PMID:9463336|PMID:9498491|PMID:9506756|PMID:9536098|PMID:9540988|PMID:9554741|PMID:9666051|PMID:9671073|PMID:9671267|PMID:9681840|PMID:9681842|PMID:9683585 12358230 MEN1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:9709921|PMID:9709922|PMID:9709976|PMID:9709985|PMID:9820618|PMID:9832038|PMID:9888389|PMID:9893679|PMID:9935177|PMID:9989505 12358230 MEN1 menin 1 gene DOID:9007787 Carcinoid Tumor ISO RGD:736443 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:lung:PYGM,D11S449,D11S906(human) PMID:16465412|REF_RGD_ID:2317351 12358230 MEN1 menin 1 gene DOID:9007821 Glucagonoma ISO RGD:736443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17961653 12358230 MEN1 menin 1 gene DOID:9007821 Glucagonoma ISO RGD:736444 D RGD:9068941 20200609 RGD DNA:deletion:exon PMID:20138042|REF_RGD_ID:2317288 12358230 MEN1 menin 1 gene DOID:9008605 Hyperparathyroidism 3 ISO RGD:736443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial isolated hyperparathyroidism PMID:17623761|PMID:21819486|PMID:25741868|PMID:28492532 12358230 MEN1 menin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:25741868 12358257 TULP2 TUB like protein 2 gene DOID:630 genetic disease ISO RGD:1321519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12358280 RDH12 retinol dehydrogenase 12 gene DOID:0050572 cone-rod dystrophy ISO RGD:1321376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod degeneration PMID:15258582|PMID:16269441|PMID:20006610|PMID:22065924|PMID:24474277|PMID:25741868|PMID:27032803|PMID:28492532|PMID:32014858 12358280 RDH12 retinol dehydrogenase 12 gene DOID:0050572 cone-rod dystrophy ISO RGD:1321376 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:15258582|PMID:16269441|PMID:20006610|PMID:22065924|PMID:23847139|PMID:24474277|PMID:25741868|PMID:27032803|PMID:28157192|PMID:28492532|PMID:30134391|PMID:32014858 12358280 RDH12 retinol dehydrogenase 12 gene DOID:0050817 Stargardt disease ISO RGD:1321376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:25741868 12358280 RDH12 retinol dehydrogenase 12 gene DOID:0070223 progressive familial intrahepatic cholestasis 3 ISO RGD:1321376 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis PMID:17964524|PMID:22065924|PMID:25741868|PMID:28492532|PMID:32014858|PMID:34001834 12358280 RDH12 retinol dehydrogenase 12 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1321376 D RGD:7240710 20180130 OMIM 12358280 RDH12 retinol dehydrogenase 12 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1321376 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: Retinitis pigmentosa 53 PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:21232531|PMID:21602930|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25412400|PMID:25494902|PMID:25561519|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26868535|PMID:27032803|PMID:27208204|PMID:27422788|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:2855908|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31630094|PMID:31814694|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:34448047|PMID:9536098 12358280 RDH12 retinol dehydrogenase 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1321376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:31054281|PMID:32014858 12358280 RDH12 retinol dehydrogenase 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1321376 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30718709|PMID:30979730|PMID:31054281|PMID:32014858 12358280 RDH12 retinol dehydrogenase 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1321376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:34448047 12358280 RDH12 retinol dehydrogenase 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1321376 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:34448047 12358280 RDH12 retinol dehydrogenase 12 gene DOID:1242 globe disease ISO RGD:1321376 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Globe disease PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:20301475|PMID:20683928|PMID:22065924|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532 12358280 RDH12 retinol dehydrogenase 12 gene DOID:14791 Leber congenital amaurosis ISO RGD:1321376 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital PMID:15258582|PMID:15322982|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17964524|PMID:19011012|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30979730|PMID:31814694|PMID:32014858|PMID:32865313|PMID:34448047 12358280 RDH12 retinol dehydrogenase 12 gene DOID:14791 Leber congenital amaurosis ISO RGD:1321376 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:27032803|PMID:27208204|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31814694|PMID:32014858|PMID:32141364|PMID:32790509|PMID:32865313|PMID:34001834|PMID:34448047|PMID:9536098 12358280 RDH12 retinol dehydrogenase 12 gene DOID:4448 macular degeneration ISO RGD:1321376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:16269441|PMID:17512964|PMID:19011012|PMID:21151602|PMID:22065924|PMID:23591405|PMID:25412400|PMID:25494902|PMID:25741868|PMID:28492532|PMID:30902645|PMID:30979730|PMID:32014858|PMID:32790509|PMID:34001834 12358280 RDH12 retinol dehydrogenase 12 gene DOID:607 paraplegia ISO RGD:1321376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12358280 RDH12 retinol dehydrogenase 12 gene DOID:630 genetic disease ISO RGD:1321376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12358280 RDH12 retinol dehydrogenase 12 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1321376 D RGD:9068941 20200609 RGD PMID:15322982|REF_RGD_ID:1599415 12358280 RDH12 retinol dehydrogenase 12 gene DOID:8466 retinal degeneration ISO RGD:1321376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16269441 12358280 RDH12 retinol dehydrogenase 12 gene DOID:8501 fundus dystrophy ISO RGD:1321376 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19140180|PMID:20301475|PMID:20683928|PMID:20736127|PMID:22065924|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26497376|PMID:26667666|PMID:27032803|PMID:27208204|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31456290|PMID:32014858|PMID:32141364|PMID:34001834|PMID:34448047|PMID:9536098 12358280 RDH12 retinol dehydrogenase 12 gene DOID:9008296 Eye Abnormalities ISO RGD:1321376 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:20301475|PMID:20683928|PMID:22065924|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532 12358294 BTBD7 BTB domain containing 7 gene DOID:0080054 achondrogenesis type IA ISO RGD:1345329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12358294 BTBD7 BTB domain containing 7 gene DOID:0081063 DICER1 syndrome ISO RGD:1345329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 12358294 BTBD7 BTB domain containing 7 gene DOID:630 genetic disease ISO RGD:1345329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12358317 ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif 9 gene DOID:12712 nephronophthisis ISO RGD:1315761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532|PMID:30609407 12358317 ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif 9 gene DOID:630 genetic disease ISO RGD:1315761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12358317 ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif 9 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1315761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18372903|PMID:23967108 12358363 TMEM217 transmembrane protein 217 gene DOID:630 genetic disease ISO RGD:1343464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12358376 BICD1 BICD cargo adaptor 1 gene DOID:630 genetic disease ISO RGD:1319790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12358389 RBM14 RNA binding motif protein 14 gene DOID:1059 intellectual disability ISO RGD:1321805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12358389 RBM14 RNA binding motif protein 14 gene DOID:630 genetic disease ISO RGD:1321805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12358389 RBM14 RNA binding motif protein 14 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1321805 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12358389 RBM14 RNA binding motif protein 14 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1321805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12358415 CLCA4 chloride channel accessory 4 gene DOID:630 genetic disease ISO RGD:1351138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12358465 TMBIM1 transmembrane BAX inhibitor motif containing 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1605964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12358465 TMBIM1 transmembrane BAX inhibitor motif containing 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1605964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12358465 TMBIM1 transmembrane BAX inhibitor motif containing 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1605964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12358465 TMBIM1 transmembrane BAX inhibitor motif containing 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1605964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12358465 TMBIM1 transmembrane BAX inhibitor motif containing 1 gene DOID:630 genetic disease ISO RGD:1605964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12358465 TMBIM1 transmembrane BAX inhibitor motif containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12358465 TMBIM1 transmembrane BAX inhibitor motif containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12358488 FXYD7 FXYD domain containing ion transport regulator 7 gene DOID:0110222 Brugada syndrome 5 ISO RGD:732780 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12358488 FXYD7 FXYD domain containing ion transport regulator 7 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:732780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12358488 FXYD7 FXYD domain containing ion transport regulator 7 gene DOID:543 dystonia ISO RGD:732780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12358488 FXYD7 FXYD domain containing ion transport regulator 7 gene DOID:630 genetic disease ISO RGD:732780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12358492 ING3 inhibitor of growth family member 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12358492 ING3 inhibitor of growth family member 3 gene DOID:630 genetic disease ISO RGD:1321527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12358492 ING3 inhibitor of growth family member 3 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1310556 D RGD:9068941 20200609 RGD PMID:25156538|REF_RGD_ID:9587823 12358510 NKIRAS1 NFKB inhibitor interacting Ras like 1 gene DOID:0111882 Diamond-Blackfan anemia 12 ISO RGD:1318403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 PMID:23812780|PMID:25741868|PMID:28492532 12358510 NKIRAS1 NFKB inhibitor interacting Ras like 1 gene DOID:630 genetic disease ISO RGD:1318403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12358525 UBE2F ubiquitin conjugating enzyme E2 F (putative) gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1350782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12358525 UBE2F ubiquitin conjugating enzyme E2 F (putative) gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1350782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12358525 UBE2F ubiquitin conjugating enzyme E2 F (putative) gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1350782 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12358525 UBE2F ubiquitin conjugating enzyme E2 F (putative) gene DOID:1059 intellectual disability ISO RGD:1350782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12358525 UBE2F ubiquitin conjugating enzyme E2 F (putative) gene DOID:630 genetic disease ISO RGD:1350782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12358525 UBE2F ubiquitin conjugating enzyme E2 F (putative) gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1350782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12358542 KRT18 keratin 18 gene DOID:0060643 primary sclerosing cholangitis severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:26195313|REF_RGD_ID:18337492 12358542 KRT18 keratin 18 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:619935 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome; protein:increased expression:liver, serum (rat) PMID:29989845|REF_RGD_ID:26884460 12358542 KRT18 keratin 18 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:30089409|REF_RGD_ID:18337482 12358542 KRT18 keratin 18 gene DOID:0080208 non-alcoholic fatty liver disease disease_progression ISO RGD:619935 D RGD:9068941 20200609 RGD protein:increased degradation:serum (rat) PMID:30149902|REF_RGD_ID:18337497 12358542 KRT18 keratin 18 gene DOID:0080208 non-alcoholic fatty liver disease disease_progression ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:30839434|REF_RGD_ID:18337481 12358542 KRT18 keratin 18 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1557581 D RGD:9068941 20220825 MouseDO 12358542 KRT18 keratin 18 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:19333204|REF_RGD_ID:18337493 12358542 KRT18 keratin 18 gene DOID:0080547 non-alcoholic steatohepatitis severity ISO RGD:619935 D RGD:9068941 20200609 RGD protein:altered degradation:liver, serum (rat) PMID:24071521|REF_RGD_ID:27226810 12358542 KRT18 keratin 18 gene DOID:0080547 non-alcoholic steatohepatitis severity ISO RGD:735767 D RGD:9068941 20200609 RGD associated with morbid obesity;protein:increased degradation:plasma (human) PMID:18995215|REF_RGD_ID:18337495 12358542 KRT18 keratin 18 gene DOID:0080547 non-alcoholic steatohepatitis severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:plasma (human) PMID:19585618|REF_RGD_ID:18337489 12358542 KRT18 keratin 18 gene DOID:0080547 non-alcoholic steatohepatitis severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:24630506|REF_RGD_ID:18337490 12358542 KRT18 keratin 18 gene DOID:0080547 non-alcoholic steatohepatitis severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21993925|REF_RGD_ID:18337499 12358542 KRT18 keratin 18 gene DOID:12236 primary biliary cholangitis severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:26110613|REF_RGD_ID:18337483 12358542 KRT18 keratin 18 gene DOID:3571 liver cancer severity ISO RGD:1557581 D RGD:9068941 20200609 RGD associated with fatty liver disease PMID:27689336|REF_RGD_ID:18337485 12358542 KRT18 keratin 18 gene DOID:409 liver disease severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:17306787|REF_RGD_ID:18337488 12358542 KRT18 keratin 18 gene DOID:5082 liver cirrhosis ISO RGD:735767 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20538000 12358542 KRT18 keratin 18 gene DOID:5082 liver cirrhosis ISO RGD:735767 D RGD:9068941 20200609 RGD protein:H127L PMID:9011570|REF_RGD_ID:1624318 12358542 KRT18 keratin 18 gene DOID:5082 liver cirrhosis severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression: serum (human) PMID:29023872|REF_RGD_ID:18337484 12358542 KRT18 keratin 18 gene DOID:630 genetic disease ISO RGD:735767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12358542 KRT18 keratin 18 gene DOID:684 hepatocellular carcinoma ISO RGD:1557581 D RGD:9068941 20220825 MouseDO OMIM:114550 12358542 KRT18 keratin 18 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:619935 D RGD:9068941 20200609 RGD protein:increased expression:liver, plasma membrane (rat) PMID:21138630|REF_RGD_ID:27226809 12358542 KRT18 keratin 18 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15999547|PMID:17072980|PMID:18395095|PMID:25380136 12358542 KRT18 keratin 18 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:22404726|REF_RGD_ID:18337496 12358542 KRT18 keratin 18 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression:liver, serum (human) PMID:23820504|REF_RGD_ID:18337500 12358542 KRT18 keratin 18 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:30839434|REF_RGD_ID:18337481 12358542 KRT18 keratin 18 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:19333204|REF_RGD_ID:18337493 12358542 KRT18 keratin 18 gene DOID:9004590 Acute Liver Failure ISO RGD:735767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20538000 12358542 KRT18 keratin 18 gene DOID:9004590 Acute Liver Failure ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:17847110|REF_RGD_ID:18337491 12358542 KRT18 keratin 18 gene DOID:9005167 Cryptogenic Cirrhosis ISO RGD:735767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cirrhosis, cryptogenic PMID:12724528|PMID:9011570 12358542 KRT18 keratin 18 gene DOID:9005749 Necrosis ISO RGD:735767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19783637 12358542 KRT18 keratin 18 gene DOID:9006550 hepatosplenic schistosomiasis disease_progression ISO RGD:1557581 D RGD:9068941 20200609 RGD protein:increased expression:serum (mouse, human) PMID:21357724|REF_RGD_ID:21406434 12358542 KRT18 keratin 18 gene DOID:9006550 hepatosplenic schistosomiasis disease_progression ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression:serum (mouse, human) PMID:21357724|REF_RGD_ID:21406434 12358542 KRT18 keratin 18 gene DOID:9007188 Liver Neoplasms ISO RGD:735767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19409407|PMID:19796649 12358542 KRT18 keratin 18 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1557581 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (mouse) PMID:17340120|REF_RGD_ID:18337498 12358542 KRT18 keratin 18 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735767 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:19783637|PMID:33483742 12358542 KRT18 keratin 18 gene DOID:9007543 Familial Cirrhosis ISO RGD:735767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cirrhosis, familial | ClinVar Annotator: match by term: Cirrhosis, noncryptogenic, susceptibility to PMID:12724528|PMID:25741868|PMID:9011570 12358542 KRT18 keratin 18 gene DOID:9007543 Familial Cirrhosis susceptibility ISO RGD:735767 D RGD:7240710 20230510 OMIM 12358542 KRT18 keratin 18 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver (human) PMID:20334631|REF_RGD_ID:18337487 12358542 KRT18 keratin 18 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:28579343|REF_RGD_ID:18337494 12358542 KRT18 keratin 18 gene DOID:9008691 Liver Injury susceptibility ISO RGD:735767 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.D238E, p.D397E (human) PMID:24463813|REF_RGD_ID:18337486 12358542 KRT18 keratin 18 gene DOID:9008939 Breast Neoplasms ISO RGD:735767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20061804|PMID:25330770 12358553 FBXO42 F-box protein 42 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1312431 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12358553 FBXO42 F-box protein 42 gene DOID:630 genetic disease ISO RGD:1312431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12358571 NDUFAB1 NADH:ubiquinone oxidoreductase subunit AB1 gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1313754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 12358571 NDUFAB1 NADH:ubiquinone oxidoreductase subunit AB1 gene DOID:630 genetic disease ISO RGD:1313754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12358571 NDUFAB1 NADH:ubiquinone oxidoreductase subunit AB1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1313754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:17200668|PMID:17200671|PMID:19609323|PMID:28492532 12358580 PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:69042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 12358580 PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:69042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 12358580 PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 gene DOID:12849 autistic disorder ISO RGD:69042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12358580 PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:69042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12358580 PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 gene DOID:630 genetic disease ISO RGD:69042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12358580 PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:69042 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12358580 PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:69042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12358612 TRIP11 thyroid hormone receptor interactor 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1318006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12358612 TRIP11 thyroid hormone receptor interactor 11 gene DOID:0080043 achondrogenesis ISO RGD:1318006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Achondrogenesis 12358612 TRIP11 thyroid hormone receptor interactor 11 gene DOID:0080054 achondrogenesis type IA ISO RGD:1318006 D RGD:7240710 20180130 OMIM 12358612 TRIP11 thyroid hormone receptor interactor 11 gene DOID:0080054 achondrogenesis type IA ISO RGD:1318006 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:16199547|PMID:17576681|PMID:200899|PMID:2008997|PMID:20089971|PMID:23956106|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28600779|PMID:29620724|PMID:29872333|PMID:30728324|PMID:31903676|PMID:34057271|PMID:9536098 12358612 TRIP11 thyroid hormone receptor interactor 11 gene DOID:1591 renovascular hypertension ISO RGD:1318006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Goldblatt syndrome PMID:20089971|PMID:25741868|PMID:28492532|PMID:29872333|PMID:30728324 12358612 TRIP11 thyroid hormone receptor interactor 11 gene DOID:630 genetic disease ISO RGD:1318006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12358612 TRIP11 thyroid hormone receptor interactor 11 gene DOID:65 connective tissue disease ISO RGD:1318006 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:200899|PMID:2008997|PMID:20089971|PMID:25741868|PMID:28492532 12358612 TRIP11 thyroid hormone receptor interactor 11 gene DOID:9003459 Odontochondrodysplasia 1 ISO RGD:1318006 D RGD:7240710 20210414 OMIM 12358612 TRIP11 thyroid hormone receptor interactor 11 gene DOID:9003459 Odontochondrodysplasia 1 ISO RGD:1318006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Goldblatt syndrome PMID:20089971|PMID:25741868|PMID:28492532|PMID:29872333|PMID:30728324 12358639 NPDC1 neural proliferation, differentiation and control 1 gene DOID:0050777 Joubert syndrome ISO RGD:1353727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12358639 NPDC1 neural proliferation, differentiation and control 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1353727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12358639 NPDC1 neural proliferation, differentiation and control 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1353727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12358639 NPDC1 neural proliferation, differentiation and control 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1353727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12358639 NPDC1 neural proliferation, differentiation and control 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1353727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12358639 NPDC1 neural proliferation, differentiation and control 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1353727 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12358639 NPDC1 neural proliferation, differentiation and control 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12358639 NPDC1 neural proliferation, differentiation and control 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353727 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12358639 NPDC1 neural proliferation, differentiation and control 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1353727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12358639 NPDC1 neural proliferation, differentiation and control 1 gene DOID:1826 epilepsy ISO RGD:1353727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12358639 NPDC1 neural proliferation, differentiation and control 1 gene DOID:3652 Leigh disease ISO RGD:1353727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12358639 NPDC1 neural proliferation, differentiation and control 1 gene DOID:630 genetic disease ISO RGD:1353727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12358639 NPDC1 neural proliferation, differentiation and control 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12358639 NPDC1 neural proliferation, differentiation and control 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1353727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12358651 TRHR thyrotropin releasing hormone receptor gene DOID:0050328 congenital hypothyroidism ISO RGD:11453 D RGD:9068941 20220825 MouseDO 12358651 TRHR thyrotropin releasing hormone receptor gene DOID:0111836 congenital nongoitrous hypothyroidism 7 ISO RGD:737056 D RGD:7240710 20190911 OMIM 12358651 TRHR thyrotropin releasing hormone receptor gene DOID:0111836 congenital nongoitrous hypothyroidism 7 ISO RGD:737056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 7 PMID:19213692|PMID:25741868|PMID:26735259|PMID:28419241|PMID:9141550 12358651 TRHR thyrotropin releasing hormone receptor gene DOID:10763 hypertension ISO RGD:3904 D RGD:9068941 20200609 RGD PMID:7554113|REF_RGD_ID:1580745 12358651 TRHR thyrotropin releasing hormone receptor gene DOID:10763 hypertension ISO RGD:737056 D RGD:9068941 20200609 RGD PMID:11566956|REF_RGD_ID:1580744 12358651 TRHR thyrotropin releasing hormone receptor gene DOID:11633 thyroid hormone resistance syndrome ISO RGD:737056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9141550 12358651 TRHR thyrotropin releasing hormone receptor gene DOID:1459 hypothyroidism ISO RGD:737056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9141550 12358651 TRHR thyrotropin releasing hormone receptor gene DOID:630 genetic disease ISO RGD:737056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12358657 SEMA3A semaphorin 3A gene DOID:0050834 CHARGE syndrome ISO RGD:730921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 12358657 SEMA3A semaphorin 3A gene DOID:0090080 hypogonadotropic hypogonadism 16 with or without anosmia ISO RGD:730921 D RGD:7240710 20180130 OMIM 12358657 SEMA3A semaphorin 3A gene DOID:0090080 hypogonadotropic hypogonadism 16 with or without anosmia ISO RGD:730921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 16 with or without anosmia PMID:22416012|PMID:22927827|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32060892|PMID:32870266 12358657 SEMA3A semaphorin 3A gene DOID:0111586 Martsolf syndrome 1 ISO RGD:730921 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:22927827|PMID:25741868 12358657 SEMA3A semaphorin 3A gene DOID:13938 amenorrhea ISO RGD:730921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:22927827|PMID:28492532|PMID:32870266 12358657 SEMA3A semaphorin 3A gene DOID:1826 epilepsy ISO RGD:730921 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 12358657 SEMA3A semaphorin 3A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:730921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12358657 SEMA3A semaphorin 3A gene DOID:5419 schizophrenia ISO RGD:730921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12358657 SEMA3A semaphorin 3A gene DOID:630 genetic disease ISO RGD:730921 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12358657 SEMA3A semaphorin 3A gene DOID:9001239 Delayed Puberty ISO RGD:730921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:25636053|PMID:28492532 12358657 SEMA3A semaphorin 3A gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730921 D RGD:9068941 20210416 CTD CTD Direct Evidence: therapeutic PMID:33290778 12358724 LRRCC1 leucine rich repeat and coiled-coil centrosomal protein 1 gene DOID:0050777 Joubert syndrome ISO RGD:1604564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders 12358724 LRRCC1 leucine rich repeat and coiled-coil centrosomal protein 1 gene DOID:630 genetic disease ISO RGD:1604564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12358758 ZNF423 zinc finger protein 423 gene DOID:0111122 nephronophthisis 14 ISO RGD:1344492 D RGD:7240710 20180130 OMIM 12358758 ZNF423 zinc finger protein 423 gene DOID:0111122 nephronophthisis 14 ISO RGD:1344492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 19 | ClinVar Annotator: match by term: Nephronophthisis 14 PMID:17576681|PMID:22863007|PMID:25741868|PMID:26539891|PMID:28492532|PMID:30868567|PMID:32723786|PMID:32925911|PMID:9536098 12358758 ZNF423 zinc finger protein 423 gene DOID:2785 Dandy-Walker syndrome ISO RGD:734395 D RGD:9068941 20220825 MouseDO OMIM:220200 12358758 ZNF423 zinc finger protein 423 gene DOID:2786 cerebellar disease ISO RGD:734395 D RGD:9068941 20220825 MouseDO 12358758 ZNF423 zinc finger protein 423 gene DOID:630 genetic disease ISO RGD:1344492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12358758 ZNF423 zinc finger protein 423 gene DOID:670 amphetamine abuse ISO RGD:1344492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12358758 ZNF423 zinc finger protein 423 gene DOID:784 chronic kidney disease ISO RGD:1344492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532|PMID:32723786 12358769 BRWD1 bromodomain and WD repeat domain containing 1 gene DOID:12336 male infertility ISO RGD:1345101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 12358769 BRWD1 bromodomain and WD repeat domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1345101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:22495309|PMID:25326635|PMID:25741868|PMID:30208311 12358769 BRWD1 bromodomain and WD repeat domain containing 1 gene DOID:14228 oligospermia ISO RGD:1345101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18353305 12358769 BRWD1 bromodomain and WD repeat domain containing 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1345101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12358769 BRWD1 bromodomain and WD repeat domain containing 1 gene DOID:630 genetic disease ISO RGD:1345101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12358815 LRRC3 leucine rich repeat containing 3 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:732363 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 12358815 LRRC3 leucine rich repeat containing 3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:732363 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12358815 LRRC3 leucine rich repeat containing 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:732363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12358815 LRRC3 leucine rich repeat containing 3 gene DOID:12849 autistic disorder ISO RGD:732363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12358815 LRRC3 leucine rich repeat containing 3 gene DOID:630 genetic disease ISO RGD:732363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12358815 LRRC3 leucine rich repeat containing 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:732363 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12358815 LRRC3 leucine rich repeat containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12358815 LRRC3 leucine rich repeat containing 3 gene DOID:9263 homocystinuria ISO RGD:732363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12358815 LRRC3 leucine rich repeat containing 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:732363 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12358821 MYLIP myosin regulatory light chain interacting protein gene DOID:289 endometriosis ISO RGD:1313988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12358821 MYLIP myosin regulatory light chain interacting protein gene DOID:630 genetic disease ISO RGD:1313988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12358831 ALDH5A1 aldehyde dehydrogenase 5 family member A1 gene DOID:0060041 autism spectrum disorder ISO RGD:735245 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12358831 ALDH5A1 aldehyde dehydrogenase 5 family member A1 gene DOID:0060175 succinic semialdehyde dehydrogenase deficiency ISO RGD:735245 D RGD:7240710 20180130 OMIM 12358831 ALDH5A1 aldehyde dehydrogenase 5 family member A1 gene DOID:0060175 succinic semialdehyde dehydrogenase deficiency ISO RGD:735245 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency PMID:10633133|PMID:11243727|PMID:11544478|PMID:11901270|PMID:12208142|PMID:12507422|PMID:1301198|PMID:14523039|PMID:14635103|PMID:16115930|PMID:16199547|PMID:16442322|PMID:16542398|PMID:16545979|PMID:17438226|PMID:17576681|PMID:19484191|PMID:20304328|PMID:21612881|PMID:22437753|PMID:23430864|PMID:23825041|PMID:23926001|PMID:24033266|PMID:25122112|PMID:25246302|PMID:25363768|PMID:25431891|PMID:25558043|PMID:25741868|PMID:26220405|PMID:26268900|PMID:26964512|PMID:27056292|PMID:27104484|PMID:27117035|PMID:27815844|PMID:27824329|PMID:27896081|PMID:28186584|PMID:28191889|PMID:28407358|PMID:28492532|PMID:28664505|PMID:29895405|PMID:30091983|PMID:30829465|PMID:31117962|PMID:31267348|PMID:32005694|PMID:32093054|PMID:32223457|PMID:32238909|PMID:32348839|PMID:32395407|PMID:32402538|PMID:32887777|PMID:32907636|PMID:33203024|PMID:34882073|PMID:9536098|PMID:9683595 12358831 ALDH5A1 aldehyde dehydrogenase 5 family member A1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:735245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12358831 ALDH5A1 aldehyde dehydrogenase 5 family member A1 gene DOID:10283 prostate cancer ISO RGD:735245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12358831 ALDH5A1 aldehyde dehydrogenase 5 family member A1 gene DOID:1059 intellectual disability ISO RGD:735245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12358831 ALDH5A1 aldehyde dehydrogenase 5 family member A1 gene DOID:1826 epilepsy ISO RGD:735245 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12358831 ALDH5A1 aldehyde dehydrogenase 5 family member A1 gene DOID:543 dystonia ISO RGD:735245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17438226 12358831 ALDH5A1 aldehyde dehydrogenase 5 family member A1 gene DOID:630 genetic disease ISO RGD:735245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11243727|PMID:11544478|PMID:14635103|PMID:16199547|PMID:19484191|PMID:25431891|PMID:25741868|PMID:27104484|PMID:27896081|PMID:28492532|PMID:30091983|PMID:32402538|PMID:33203024|PMID:34882073 12358831 ALDH5A1 aldehyde dehydrogenase 5 family member A1 gene DOID:9003814 Neurologic Manifestations ISO RGD:735245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29031482 12358831 ALDH5A1 aldehyde dehydrogenase 5 family member A1 gene DOID:9005627 Metabolic Brain Diseases ISO RGD:735245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17438226 12358831 ALDH5A1 aldehyde dehydrogenase 5 family member A1 gene DOID:9006205 Animal Disease Models ISO RGD:735245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29031482 12358849 TENM2 teneurin transmembrane protein 2 gene DOID:10485 esophageal atresia ISO RGD:732274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12358849 TENM2 teneurin transmembrane protein 2 gene DOID:303 substance-related disorder ISO RGD:732274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12358849 TENM2 teneurin transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:732274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12358912 AFAP1L1 actin filament associated protein 1 like 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606158 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12358912 AFAP1L1 actin filament associated protein 1 like 1 gene DOID:630 genetic disease ISO RGD:1606158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12358912 AFAP1L1 actin filament associated protein 1 like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12358912 AFAP1L1 actin filament associated protein 1 like 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606158 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12358949 LOC490422 GON-4-like protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12358949 LOC490422 GON-4-like protein gene DOID:0060586 Noonan syndrome 8 ISO RGD:1606548 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532|PMID:30684668|PMID:31463572 12358949 LOC490422 GON-4-like protein gene DOID:0111940 immunodeficiency 42 ISO RGD:1606548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12358949 LOC490422 GON-4-like protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12358949 LOC490422 GON-4-like protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12358949 LOC490422 GON-4-like protein gene DOID:1059 intellectual disability ISO RGD:1606548 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12358949 LOC490422 GON-4-like protein gene DOID:1540 parathyroid carcinoma ISO RGD:1606548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12358949 LOC490422 GON-4-like protein gene DOID:3070 high grade glioma ISO RGD:1606548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12358949 LOC490422 GON-4-like protein gene DOID:5812 MHC class II deficiency ISO RGD:1606548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12358949 LOC490422 GON-4-like protein gene DOID:8850 salivary gland cancer ISO RGD:2312710 D RGD:9068941 20220825 MouseDO 12358949 LOC490422 GON-4-like protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12358994 RPS6KA5 ribosomal protein S6 kinase A5 gene DOID:0080054 achondrogenesis type IA ISO RGD:1318046 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12358994 RPS6KA5 ribosomal protein S6 kinase A5 gene DOID:0080600 COVID-19 ISO RGD:1318046 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12358994 RPS6KA5 ribosomal protein S6 kinase A5 gene DOID:630 genetic disease ISO RGD:1318046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12358994 RPS6KA5 ribosomal protein S6 kinase A5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1318046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16339038 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:0050751 T-cell large granular lymphocyte leukemia ISO RGD:730906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916|PMID:29200404 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:0050861 colorectal adenocarcinoma ameliorates ISO RGD:730906 D RGD:9068941 20220812 RGD human cells in a mouse model PMID:23733954|REF_RGD_ID:11076784 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:730906 D RGD:9068941 20220729 RGD protein:increased expression:colorectum (human) PMID:21826656|REF_RGD_ID:153298931 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:730906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma ISO RGD:730906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29200404 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 ISO RGD:730906 D RGD:7240710 20180130 OMIM 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 ISO RGD:730906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive PMID:13679528|PMID:15827093|PMID:16199547|PMID:16464942|PMID:16787985|PMID:17030597|PMID:17576681|PMID:20538865|PMID:24033266|PMID:24825865|PMID:24972766|PMID:25586472|PMID:25741868|PMID:26703237|PMID:27600764|PMID:28492532|PMID:29200404|PMID:29844444|PMID:9536098 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:0080837 growth hormone insensitivity syndrome with immune dysregulation 2 ISO RGD:730906 D RGD:7240710 20200910 OMIM 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:0080837 growth hormone insensitivity syndrome with immune dysregulation 2 ISO RGD:730906 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant PMID:25741868|PMID:28492532|PMID:29844444|PMID:31902742 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:0081042 T-cell prolymphocytic leukemia ISO RGD:730906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29200404 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:730906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:234 colon adenocarcinoma ISO RGD:730906 D RGD:9068941 20220812 RGD DNA:SNPs:introns: (rs6503691, rs7218653) (human) PMID:22121102|REF_RGD_ID:153323313 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:3261 hyper IgE recurrent infection syndrome 1 ISO RGD:730906 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1 PMID:28492532 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:730906 D RGD:9068941 20220729 RGD mRNA:increased expression:stomach (human) PMID:33042401|REF_RGD_ID:153298934 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:730906 D RGD:9068941 20220729 RGD mRNA,protein:increased expression:lung (human) PMID:25137041|REF_RGD_ID:153298930 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:730906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29200404 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:630 genetic disease ISO RGD:730906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:730906 D RGD:9068941 20220729 RGD mRNA:increased expression:liver (human) PMID:31485610|REF_RGD_ID:153298932 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:730906 D RGD:9068941 20220729 RGD protein:increased expression:liver (human) PMID:17047057|REF_RGD_ID:153298929 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:9002304 Prostatic Neoplasms ISO RGD:11352 D RGD:9068941 20200609 RGD PMID:14695191|REF_RGD_ID:2291933 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:9002669 Hypoxia ISO RGD:3774 D RGD:9068941 20200609 RGD mRNA:increased expression:perifornical nucleus PMID:16730240|REF_RGD_ID:1601380 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:9002720 Splenomegaly ISO RGD:730906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29200404 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:9003745 Enteropathy-Associated T-Cell Lymphoma ISO RGD:730906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29200404 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:9004009 Reperfusion Injury ISO RGD:3774 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:17880360|REF_RGD_ID:2303397 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:9004713 Acute-Phase Reaction ISO RGD:3774 D RGD:9068941 20200609 RGD protein:decreased activity:liver PMID:17565389|REF_RGD_ID:2291935 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3774 D RGD:9068941 20200609 RGD PMID:17003334|REF_RGD_ID:2291940 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:9005930 Endotoxemia ISO RGD:3774 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:liver PMID:17327369|REF_RGD_ID:1601383 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:9007188 Liver Neoplasms exacerbates ISO RGD:11352 D RGD:9068941 20220812 RGD B6 strain PMID:24838184|REF_RGD_ID:153298928 12359015 STAT5B signal transducer and activator of transcription 5B gene DOID:9008671 T-Lymphocytopenia ISO RGD:730906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17030597 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:0080600 COVID-19 ISO RGD:1352377 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:0080600 COVID-19 severity ISO RGD:1352377 D RGD:9068941 20200618 RGD protein:increased expression:plasma (human) PMID:32360286|REF_RGD_ID:30309209 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:10325 silicosis ISO RGD:1359152 D RGD:9068941 20200609 RGD PMID:21830856|REF_RGD_ID:6483764 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:1063 interstitial nephritis ISO RGD:1352377 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10385480 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:1063 interstitial nephritis ISO RGD:1359152 D RGD:9068941 20200609 RGD PMID:10385480|REF_RGD_ID:6483768 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:11204 allergic conjunctivitis ISO RGD:1352377 D RGD:9068941 20200609 RGD protein:increased expression:conjunctiva PMID:11090473|REF_RGD_ID:6483824 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:1551007 D RGD:9068941 20200609 RGD PMID:16888287|REF_RGD_ID:5130981 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:1205 allergic disease ISO RGD:1352377 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:13580 cholestasis ISO RGD:1352377 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:1790 malignant mesothelioma ISO RGD:1352377 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:2377 multiple sclerosis ISO RGD:1352377 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:12127674|REF_RGD_ID:6483818 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:2377 multiple sclerosis ISO RGD:1352377 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain PMID:9655469|REF_RGD_ID:6483814 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:2527 nephrosis ISO RGD:1359152 D RGD:9068941 20200609 RGD PMID:10867541|REF_RGD_ID:4891422 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:2799 bronchiolitis obliterans ISO RGD:1359152 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar Lavage fluid PMID:22215510|REF_RGD_ID:6483763 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:2841 asthma ISO RGD:1352377 D RGD:9068941 20200609 RGD Promoter polymorphism PMID:21388664|REF_RGD_ID:5130983 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:2841 asthma ISO RGD:1551007 D RGD:9068941 20200609 RGD PMID:19965981|REF_RGD_ID:5130979 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:2921 glomerulonephritis ISO RGD:1352377 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10385480 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:2921 glomerulonephritis ISO RGD:1359152 D RGD:9068941 20200609 RGD PMID:11157384|REF_RGD_ID:8693624 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1352377 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:macrophage PMID:21327296|REF_RGD_ID:6483765 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:3525 middle cerebral artery infarction ISO RGD:1352377 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:4483 rhinitis ISO RGD:1352377 D RGD:9068941 20200609 RGD PMID:17982926|REF_RGD_ID:4145109 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:4617 periapical granuloma ISO RGD:1352377 D RGD:9068941 20200609 RGD protein:increased expression:periodontal ligament PMID:20646081|REF_RGD_ID:6483772 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:552 pneumonia ISO RGD:1352377 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:552 pneumonia ISO RGD:1352377 D RGD:9068941 20200609 RGD PMID:15191918|REF_RGD_ID:5130985 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:630 genetic disease ISO RGD:1352377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:820 myocarditis ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:21986287|REF_RGD_ID:6483771 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:823 periapical periodontitis disease_progression ISO RGD:1352377 D RGD:9068941 20200609 RGD protein:increased expression:periodontal ligament PMID:20646081|REF_RGD_ID:6483772 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1551007 D RGD:9068941 20200609 RGD PMID:20027288|REF_RGD_ID:5130978 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:8466 retinal degeneration ISO RGD:1551007 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:16270028|REF_RGD_ID:6483781 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:8577 ulcerative colitis ISO RGD:1352377 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:10433925|REF_RGD_ID:6483784 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1551007 D RGD:9068941 20200609 RGD PMID:18490489|REF_RGD_ID:5130980 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:9001004 Chronic Periodontitis disease_progression ISO RGD:1352377 D RGD:9068941 20200609 RGD protein:increased expression:gingival crevicular fluid, gingvia PMID:20151806|REF_RGD_ID:6483776 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1359152 D RGD:9068941 20200609 RGD PMID:17719030|REF_RGD_ID:6483766 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:9002457 Experimental Arthritis onset ISO RGD:1551007 D RGD:9068941 20200609 RGD PMID:17178563|REF_RGD_ID:6483780 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:9005334 Radicular Cyst ISO RGD:1352377 D RGD:9068941 20200609 RGD protein:increased expression:periodontal ligament PMID:20646081|REF_RGD_ID:6483772 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:9005724 Fungal Lung Diseases ISO RGD:1551007 D RGD:9068941 20200609 RGD PMID:20045013|REF_RGD_ID:5129686 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:9007889 Nephrogenic Fibrosing Dermopathy ISO RGD:1359152 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19131226|REF_RGD_ID:5135067 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:934 viral infectious disease ISO RGD:1352377 D RGD:9068941 20200609 RGD Various respiratory viruses PMID:18579545|REF_RGD_ID:5130984 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:9507 ethmoid sinusitis ISO RGD:1352377 D RGD:9068941 20200609 RGD protein:increased expression:ethmoid sinus PMID:9800627|REF_RGD_ID:6483785 12359054 CCL7 C-C motif chemokine ligand 7 gene DOID:9970 obesity ISO RGD:1352377 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue PMID:18492752|REF_RGD_ID:6483834 12359059 LHX6 LIM homeobox 6 gene DOID:630 genetic disease ISO RGD:1314642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606587 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:0080011 bone resorption disease ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11985600 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:0090122 aromatase excess syndrome ISO RGD:1606587 D RGD:7240710 20180130 OMIM 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:0090122 aromatase excess syndrome ISO RGD:1606587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aromatase deficiency | ClinVar Annotator: match by term: Aromatase excess syndrome PMID:10566648|PMID:12466340|PMID:14602738|PMID:14715828|PMID:1496995|PMID:16199547|PMID:16882736|PMID:17164303|PMID:17576681|PMID:1825497|PMID:20048079|PMID:20186154|PMID:23329769|PMID:25088806|PMID:25301327|PMID:25415177|PMID:25741868|PMID:26822949|PMID:27086564|PMID:27256151|PMID:27693882|PMID:28492532|PMID:2973313|PMID:30968679|PMID:8265607|PMID:8530621|PMID:9177373|PMID:9211678|PMID:9536098|PMID:9718379 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:10652 Alzheimer's disease ISO RGD:1606587 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16882736|REF_RGD_ID:1600861 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:10652 Alzheimer's disease ISO RGD:1606587 D RGD:9068941 20200609 RGD mRNA:altered expression:cerebellum, hippocampus (human) PMID:18180323|REF_RGD_ID:4889108 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:10763 hypertension ISO RGD:2457 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary (rat) PMID:19228890|REF_RGD_ID:4761326 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:1100 ovarian disease ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11985600 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:11054 urinary bladder cancer ISO RGD:737520 D RGD:9068941 20200609 RGD PMID:17406000|REF_RGD_ID:7257712 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:11476 osteoporosis ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20723554 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:11476 osteoporosis ISO RGD:1606587 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:17002564|REF_RGD_ID:1625350 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21262361|PMID:22381227|PMID:8265607|PMID:9177373 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:2457 D RGD:9068941 20200609 RGD PMID:23183180|REF_RGD_ID:7257726 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:2457 D RGD:9068941 20200609 RGD mRNA, protein:decreased expresssion:ovary PMID:23598873|REF_RGD_ID:7257717 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:11612 polycystic ovary syndrome susceptibility ISO RGD:1606587 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A264C (rs700519) (human) PMID:21282199|REF_RGD_ID:7257710 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:11714 gestational diabetes ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20421132 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:11801 protein-energy malnutrition ISO RGD:2457 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary (rat) PMID:20018485|REF_RGD_ID:4890381 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:12577 urethral obstruction ISO RGD:1606587 D RGD:9068941 20200609 RGD PMID:12050560|REF_RGD_ID:7257713 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:12849 autistic disorder ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21359227 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:12894 Sjogren's syndrome ISO RGD:737520 D RGD:9068941 20220825 MouseDO OMIM:270150 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:1380 endometrial cancer ISO RGD:1606587 D RGD:9068941 20200609 RGD DNA:SNP::increase in frequency of mutant heterozygote C/T (p=0.0004) PMID:18497059|REF_RGD_ID:2301045 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:13938 amenorrhea ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8265607 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:13948 bladder neck obstruction ISO RGD:1606587 D RGD:9068941 20200609 RGD PMID:21356374|REF_RGD_ID:7257709 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:1459 hypothyroidism ISO RGD:2457 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary (rat) PMID:20149258|REF_RGD_ID:4890368 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:14654 prostatitis ISO RGD:1606587 D RGD:9068941 20200609 RGD PMID:19700748|REF_RGD_ID:7257711 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:1612 breast cancer ISO RGD:1606587 D RGD:9068941 20200609 RGD DNA:repeat::(TTTA)10 (human) PMID:16875543|REF_RGD_ID:2301046 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:1612 breast cancer treatment ISO RGD:1606587 D RGD:9068941 20200609 RGD PMID:7053713|REF_RGD_ID:7257716 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:1612 breast cancer treatment ISO RGD:1606587 D RGD:9068941 20200609 RGD DNA:SNP:cds:rs700518 (human) PMID:23643682|REF_RGD_ID:7257707 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:1924 hypogonadism ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9177373 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:2394 ovarian cancer ISO RGD:1606587 D RGD:9068941 20200609 RGD DNA:SNP::increase in frequency of mutant heterozygote C/T (p=0.001) PMID:18497059|REF_RGD_ID:2301045 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:2717 Bloom syndrome ISO RGD:1606587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:289 endometriosis ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18815356|PMID:21958689 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:289 endometriosis ISO RGD:1606587 D RGD:9068941 20200609 RGD PMID:8550748|REF_RGD_ID:7257715 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:289 endometriosis ISO RGD:2457 D RGD:9068941 20200609 RGD PMID:23406865|REF_RGD_ID:7257718 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:299 adenocarcinoma ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1606587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:3891 placental insufficiency ISO RGD:2457 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:hippocampus (rat) PMID:20662593|REF_RGD_ID:4890445 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:1606587 D RGD:9068941 20210521 RGD DNA:SNP:5'utr: (rs2445762) (human) PMID:21472143|REF_RGD_ID:126925218 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1606587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:20048079|PMID:25741868 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:607 paraplegia ISO RGD:1606587 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1606587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:1606587 D RGD:9068941 20200609 RGD PMID:19700748|REF_RGD_ID:7257711 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1606587 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:34426286 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9000784 Fibrosis ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22028442 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28112739 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9001604 Sexual Infantilism ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8265607 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9001827 Critical Illness ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16670151 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2457 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22301628|REF_RGD_ID:7257708 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16424004|PMID:17704407 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1606587 D RGD:9068941 20200609 RGD DNA:SNP:intron, 5' utr: (rs1062033) (human) PMID:20417295|REF_RGD_ID:10045662 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9002801 Recurrence ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28112739 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:1606587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency PMID:25741868 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2457 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:21114983|REF_RGD_ID:4890041 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:1606587 D RGD:9068941 20200609 RGD DNA:snps:exon:multiple (human) PMID:17118999|REF_RGD_ID:1600860 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2457 D RGD:9068941 20200609 RGD protein:decreased expression:ovary, testis (rat) PMID:20428845|REF_RGD_ID:4890359 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2457 D RGD:9068941 20200609 RGD PMID:23552495|REF_RGD_ID:7244372 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9007456 Female Infertility ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14684609 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9008113 Tissue Adhesions treatment ISO RGD:2457 D RGD:9068941 20200609 RGD PMID:23395555|REF_RGD_ID:7257719 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1606587 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:11850205|PMID:19639193|PMID:23342035|PMID:28112739|PMID:29701941|PMID:34426286 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9256 colorectal cancer ISO RGD:1606587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9406 hypopituitarism ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12970278 12359083 CYP19A1 cytochrome P450 family 19 subfamily A member 1 gene DOID:9452 fatty liver disease ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11929713 12359094 LOC606974 UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 gene DOID:0050777 Joubert syndrome ISO RGD:1321645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12359094 LOC606974 UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1321645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12359094 LOC606974 UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1321645 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12359094 LOC606974 UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1321645 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12359094 LOC606974 UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12359094 LOC606974 UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1321645 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12359094 LOC606974 UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1321645 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12359094 LOC606974 UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 gene DOID:0080600 COVID-19 ISO RGD:1321645 D RGD:9068941 20210122 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12359094 LOC606974 UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1321645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12359094 LOC606974 UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 gene DOID:1826 epilepsy ISO RGD:1321645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12359094 LOC606974 UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 gene DOID:3652 Leigh disease ISO RGD:1321645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12359094 LOC606974 UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 gene DOID:630 genetic disease ISO RGD:1321645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359094 LOC606974 UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1321645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12359107 ORAI3 ORAI calcium release-activated calcium modulator 3 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1602192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12359107 ORAI3 ORAI calcium release-activated calcium modulator 3 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1602192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 12359107 ORAI3 ORAI calcium release-activated calcium modulator 3 gene DOID:630 genetic disease ISO RGD:1602192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359113 LYPD2 LY6/PLAUR domain containing 2 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1352251 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 12359113 LYPD2 LY6/PLAUR domain containing 2 gene DOID:4621 holoprosencephaly ISO RGD:1352251 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12359113 LYPD2 LY6/PLAUR domain containing 2 gene DOID:630 genetic disease ISO RGD:1352251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359120 PRKD1 protein kinase D1 gene DOID:0080820 occupational asthma ISO RGD:1351212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27504716 12359120 PRKD1 protein kinase D1 gene DOID:10283 prostate cancer ISO RGD:1351212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12359120 PRKD1 protein kinase D1 gene DOID:1682 congenital heart disease ISO RGD:1351212 D RGD:9068941 20230427 RGD DNA:SNP:intron:c.265-1G>T (human) PMID:33919081|REF_RGD_ID:329322879 12359120 PRKD1 protein kinase D1 gene DOID:1682 congenital heart disease ISO RGD:1351212 D RGD:9068941 20230427 RGD DNA:missense mutations:CDS:p.L299W, p.G592R (human) PMID:27479907|REF_RGD_ID:11560583 12359120 PRKD1 protein kinase D1 gene DOID:299 adenocarcinoma ISO RGD:1351212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25240283 12359120 PRKD1 protein kinase D1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1351212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:28492532|PMID:31042289 12359120 PRKD1 protein kinase D1 gene DOID:5844 myocardial infarction treatment ISO RGD:620964 D RGD:9068941 20230420 RGD PMID:26064267|REF_RGD_ID:289474908 12359120 PRKD1 protein kinase D1 gene DOID:630 genetic disease ISO RGD:1351212 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12359120 PRKD1 protein kinase D1 gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:1551913 D RGD:9068941 20230420 RGD associated with Cardiomegaly PMID:25889640|REF_RGD_ID:290382408 12359120 PRKD1 protein kinase D1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1351212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25240283 12359120 PRKD1 protein kinase D1 gene DOID:9003936 Cardiomegaly ISO RGD:1351212 D RGD:9068941 20230420 RGD human gene in a mouse model PMID:16648482|REF_RGD_ID:243065275 12359120 PRKD1 protein kinase D1 gene DOID:9003936 Cardiomegaly ISO RGD:1551913 D RGD:9068941 20230406 RGD protein:increased activity:heart (mouse) PMID:24161911|REF_RGD_ID:243048462 12359120 PRKD1 protein kinase D1 gene DOID:9003936 Cardiomegaly ISO RGD:620964 D RGD:9068941 20230420 RGD protein:increased phosphorylation:heart left ventricle (rat) PMID:16648482|REF_RGD_ID:243065275 12359120 PRKD1 protein kinase D1 gene DOID:9003936 Cardiomegaly ameliorates ISO RGD:1551913 D RGD:9068941 20230427 RGD PMID:18287012|PMID:36172952|REF_RGD_ID:307436945|REF_RGD_ID:329322877 12359120 PRKD1 protein kinase D1 gene DOID:9004191 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA ISO RGD:1351212 D RGD:7240710 20190315 OMIM 12359120 PRKD1 protein kinase D1 gene DOID:9004191 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA ISO RGD:1351212 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital heart defects and ectodermal dysplasia PMID:25741868|PMID:27479907|PMID:28492532|PMID:32817298 12359120 PRKD1 protein kinase D1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1351212 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12359120 PRKD1 protein kinase D1 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:1351212 D RGD:9068941 20230420 RGD human gene in a mouse model PMID:25173922|REF_RGD_ID:307436943 12359120 PRKD1 protein kinase D1 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:1551913 D RGD:9068941 20230420 RGD PMID:24345679|REF_RGD_ID:307727199 12359120 PRKD1 protein kinase D1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 12359142 NECTIN4 nectin cell adhesion molecule 4 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1347607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12359142 NECTIN4 nectin cell adhesion molecule 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1347607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12359142 NECTIN4 nectin cell adhesion molecule 4 gene DOID:630 genetic disease ISO RGD:1347607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12359142 NECTIN4 nectin cell adhesion molecule 4 gene DOID:9002370 Ectodermal Dysplasia-Syndactyly Syndrome 1 ISO RGD:1347607 D RGD:7240710 20180130 OMIM 12359142 NECTIN4 nectin cell adhesion molecule 4 gene DOID:9002370 Ectodermal Dysplasia-Syndactyly Syndrome 1 ISO RGD:1347607 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia-syndactyly syndrome 1 PMID:20691405|PMID:21346770|PMID:24577405|PMID:25529316|PMID:25741868|PMID:28492532 12359142 NECTIN4 nectin cell adhesion molecule 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12359152 LOC611565 antigen WC1.1-like gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1603525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12359152 LOC611565 antigen WC1.1-like gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1603525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12359152 LOC611565 antigen WC1.1-like gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1603525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12359152 LOC611565 antigen WC1.1-like gene DOID:0080600 COVID-19 ISO RGD:1603525 D RGD:9068941 20210115 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12359152 LOC611565 antigen WC1.1-like gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1603525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12359152 LOC611565 antigen WC1.1-like gene DOID:0111621 Temtamy syndrome ISO RGD:1603525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12359152 LOC611565 antigen WC1.1-like gene DOID:1909 melanoma ISO RGD:1603525 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 12359152 LOC611565 antigen WC1.1-like gene DOID:630 genetic disease ISO RGD:1603525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359152 LOC611565 antigen WC1.1-like gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12359174 ST8SIA3 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 gene DOID:630 genetic disease ISO RGD:1606293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359182 TAAR4 trace amine-associated receptor 4 gene DOID:5419 schizophrenia ISO RGD:1553140 D RGD:9068941 20220825 MouseDO OMIM:181500 12359182 TAAR4 trace amine-associated receptor 4 gene DOID:630 genetic disease ISO RGD:1346236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359183 MED12L mediator complex subunit 12L gene DOID:0050579 glycogen storage disease XV ISO RGD:1352033 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12359183 MED12L mediator complex subunit 12L gene DOID:0060692 platelet-type bleeding disorder 8 ISO RGD:1352033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 8 PMID:11196645|PMID:12578987|PMID:20966167|PMID:25741868|PMID:28492532|PMID:29117459|PMID:31064749|PMID:32100410|PMID:7706468 12359183 MED12L mediator complex subunit 12L gene DOID:1059 intellectual disability ISO RGD:1352033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31155615 12359183 MED12L mediator complex subunit 12L gene DOID:2213 hemorrhagic disease ISO RGD:1352033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 12359183 MED12L mediator complex subunit 12L gene DOID:630 genetic disease ISO RGD:1352033 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12359183 MED12L mediator complex subunit 12L gene DOID:9000668 Nizon-Isidor Syndrome ISO RGD:1352033 D RGD:7240710 20200617 OMIM 12359183 MED12L mediator complex subunit 12L gene DOID:9000668 Nizon-Isidor Syndrome ISO RGD:1352033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nizon-Isidor syndrome PMID:25741868|PMID:31155615 12359183 MED12L mediator complex subunit 12L gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12359183 MED12L mediator complex subunit 12L gene DOID:9008582 Developmental Disease ISO RGD:1352033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12359229 FOXE1 forkhead box E1 gene DOID:0050328 congenital hypothyroidism ISO RGD:735500 D RGD:9068941 20220825 MouseDO 12359229 FOXE1 forkhead box E1 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:735499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 12359229 FOXE1 forkhead box E1 gene DOID:0050655 Bamforth-Lazarus syndrome ISO RGD:735499 D RGD:7240710 20180130 OMIM 12359229 FOXE1 forkhead box E1 gene DOID:0050655 Bamforth-Lazarus syndrome ISO RGD:735499 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bamforth-Lazarus syndrome PMID:12165566|PMID:16882747|PMID:21177256|PMID:25381600|PMID:25741868|PMID:28492532|PMID:2918525|PMID:35963604|PMID:9697705 12359229 FOXE1 forkhead box E1 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:735499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 12359229 FOXE1 forkhead box E1 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:735499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 12359229 FOXE1 forkhead box E1 gene DOID:1059 intellectual disability ISO RGD:735499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12359229 FOXE1 forkhead box E1 gene DOID:12712 nephronophthisis ISO RGD:735499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 12359229 FOXE1 forkhead box E1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:735499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 12359229 FOXE1 forkhead box E1 gene DOID:630 genetic disease ISO RGD:735499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359229 FOXE1 forkhead box E1 gene DOID:9001793 Generalized Epilepsy ISO RGD:735499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 12359229 FOXE1 forkhead box E1 gene DOID:9003422 Thyroid Cancer, Nonmedullary, 4 ISO RGD:735499 D RGD:7240710 20180418 OMIM 12359229 FOXE1 forkhead box E1 gene DOID:9003422 Thyroid Cancer, Nonmedullary, 4 ISO RGD:735499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 4 PMID:25381600 12359243 H4C4 H4 clustered histone 4 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1347367 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 12359249 NT5C1B 5'-nucleotidase, cytosolic IB gene DOID:630 genetic disease ISO RGD:1354038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359276 ARL5B ADP ribosylation factor like GTPase 5B gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1313675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12359276 ARL5B ADP ribosylation factor like GTPase 5B gene DOID:0080600 COVID-19 ISO RGD:1313675 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12359276 ARL5B ADP ribosylation factor like GTPase 5B gene DOID:1909 melanoma ISO RGD:1313675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12359276 ARL5B ADP ribosylation factor like GTPase 5B gene DOID:630 genetic disease ISO RGD:1313675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359289 PSMA8 proteasome 20S subunit alpha 8 gene DOID:1059 intellectual disability ISO RGD:1349882 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12359289 PSMA8 proteasome 20S subunit alpha 8 gene DOID:630 genetic disease ISO RGD:1349882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359328 NCR3LG1 natural killer cell cytotoxicity receptor 3 ligand 1 gene DOID:1059 intellectual disability ISO RGD:1601692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12359328 NCR3LG1 natural killer cell cytotoxicity receptor 3 ligand 1 gene DOID:630 genetic disease ISO RGD:1601692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359367 MMP13 matrix metallopeptidase 13 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1343267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 12359367 MMP13 matrix metallopeptidase 13 gene DOID:0080027 spondyloepimetaphyseal dysplasia ISO RGD:1343267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia 12359367 MMP13 matrix metallopeptidase 13 gene DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type ISO RGD:1343267 D RGD:7240710 20180130 OMIM 12359367 MMP13 matrix metallopeptidase 13 gene DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type ISO RGD:1343267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Missouri type PMID:16167086|PMID:25741868|PMID:28492532|PMID:30439533|PMID:8412645 12359367 MMP13 matrix metallopeptidase 13 gene DOID:0080176 meningococcal meningitis ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:10430840|REF_RGD_ID:8547971 12359367 MMP13 matrix metallopeptidase 13 gene DOID:10283 prostate cancer disease_progression ISO RGD:1343267 D RGD:9068941 20200609 RGD protein:increased expression:plasma:higher concentration in patients with metastases vs non-metastatic PCa, BPH or control patients PMID:15517230|REF_RGD_ID:2293604 12359367 MMP13 matrix metallopeptidase 13 gene DOID:10325 silicosis ISO RGD:620196 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, fibroblast PMID:9614183|REF_RGD_ID:10043156 12359367 MMP13 matrix metallopeptidase 13 gene DOID:1059 intellectual disability ISO RGD:1343267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12359367 MMP13 matrix metallopeptidase 13 gene DOID:10808 gastric ulcer ISO RGD:620196 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach PMID:15375341|REF_RGD_ID:10043177 12359367 MMP13 matrix metallopeptidase 13 gene DOID:11054 urinary bladder cancer ISO RGD:1343267 D RGD:9068941 20200609 RGD urinary bladder transitional-cell carcinomas; mRNA:increased expression:tumor:13/23 (52%) tumors vs no expression in normal urothelium, expression at the invading edge of tumors PMID:11054671|REF_RGD_ID:2293609 12359367 MMP13 matrix metallopeptidase 13 gene DOID:12236 primary biliary cholangitis treatment ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:20056896|REF_RGD_ID:8552731 12359367 MMP13 matrix metallopeptidase 13 gene DOID:1245 vulva cancer ISO RGD:1343267 D RGD:9068941 20200609 RGD vulvar squamous cell carcinoma (SCC); mRNA:increased expression:tumor:expressed in 9/12 tumors but not in normal vulvar epithelium, cervical SCCs, or endometrial or ovarian adenocarcinomas PMID:10027405|REF_RGD_ID:2293612 12359367 MMP13 matrix metallopeptidase 13 gene DOID:12704 ataxia telangiectasia ISO RGD:1343267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12359367 MMP13 matrix metallopeptidase 13 gene DOID:12930 dilated cardiomyopathy ISO RGD:1552243 D RGD:9068941 20200609 RGD PMID:16037568|REF_RGD_ID:1582576 12359367 MMP13 matrix metallopeptidase 13 gene DOID:13714 anodontia ISO RGD:1343267 D RGD:9068941 20200609 RGD DNA:SNP: :rs2252070 (human) PMID:24351915|REF_RGD_ID:13204812 12359367 MMP13 matrix metallopeptidase 13 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:16286264|REF_RGD_ID:10043176 12359367 MMP13 matrix metallopeptidase 13 gene DOID:2316 brain ischemia ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:16112096|REF_RGD_ID:1582554 12359367 MMP13 matrix metallopeptidase 13 gene DOID:2349 arteriosclerosis ISO RGD:1552243 D RGD:9068941 20200609 RGD PMID:16230484|REF_RGD_ID:1582544 12359367 MMP13 matrix metallopeptidase 13 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:1343267 D RGD:9068941 20200609 RGD PMID:12392760|REF_RGD_ID:1582549 12359367 MMP13 matrix metallopeptidase 13 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1343267 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:tumor:associated with microinvasion during the transition from ductal carcinoma in situ to invasive carcinoma, also expressed in all invasive ductal carcinomas tested PMID:11585740|REF_RGD_ID:2293606 12359367 MMP13 matrix metallopeptidase 13 gene DOID:4001 ovarian carcinoma ISO RGD:1343267 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:19258954|REF_RGD_ID:2306074 12359367 MMP13 matrix metallopeptidase 13 gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:1343267 D RGD:9068941 20200609 RGD PMID:12974393|REF_RGD_ID:2306083 12359367 MMP13 matrix metallopeptidase 13 gene DOID:4362 cervical cancer ISO RGD:1343267 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:17243165|REF_RGD_ID:2306082 12359367 MMP13 matrix metallopeptidase 13 gene DOID:5082 liver cirrhosis ISO RGD:1552243 D RGD:9068941 20200609 RGD PMID:21382168|REF_RGD_ID:7207361 12359367 MMP13 matrix metallopeptidase 13 gene DOID:5844 myocardial infarction ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:15782494|REF_RGD_ID:1582556 12359367 MMP13 matrix metallopeptidase 13 gene DOID:6000 congestive heart failure ISO RGD:620196 D RGD:9068941 20200609 RGD associated with Hypertension PMID:10773234|REF_RGD_ID:2290467 12359367 MMP13 matrix metallopeptidase 13 gene DOID:6000 congestive heart failure disease_progression ISO RGD:620196 D RGD:9068941 20200609 RGD protein:increased expression:left ventricle (rat) PMID:10773235|REF_RGD_ID:1582587 12359367 MMP13 matrix metallopeptidase 13 gene DOID:630 genetic disease ISO RGD:1343267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12359367 MMP13 matrix metallopeptidase 13 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1343267 D RGD:9068941 20200609 RGD PMID:15156361|REF_RGD_ID:1582548 12359367 MMP13 matrix metallopeptidase 13 gene DOID:7693 abdominal aortic aneurysm no_association ISO RGD:1343267 D RGD:9068941 20200609 RGD PMID:15944607|REF_RGD_ID:1580157 12359367 MMP13 matrix metallopeptidase 13 gene DOID:824 periodontitis ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:19393988|REF_RGD_ID:10043174 12359367 MMP13 matrix metallopeptidase 13 gene DOID:8398 osteoarthritis ISO RGD:1343267 D RGD:9068941 20200609 RGD PMID:11134178|PMID:16128596|REF_RGD_ID:10043117|REF_RGD_ID:7207089 12359367 MMP13 matrix metallopeptidase 13 gene DOID:8398 osteoarthritis ISO RGD:1552243 D RGD:9068941 20200609 RGD PMID:23982761|REF_RGD_ID:10043101 12359367 MMP13 matrix metallopeptidase 13 gene DOID:8398 osteoarthritis ISO RGD:620196 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cartilage PMID:17530714|REF_RGD_ID:2300093 12359367 MMP13 matrix metallopeptidase 13 gene DOID:8398 osteoarthritis treatment ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:22890185|REF_RGD_ID:7207218 12359367 MMP13 matrix metallopeptidase 13 gene DOID:90 degenerative disc disease ISO RGD:620196 D RGD:9068941 20200609 RGD mRNA:increased expression:intervertebral disc PMID:20948465|REF_RGD_ID:8661231 12359367 MMP13 matrix metallopeptidase 13 gene DOID:90 degenerative disc disease treatment ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:20472983|REF_RGD_ID:2325859 12359367 MMP13 matrix metallopeptidase 13 gene DOID:90 degenerative disc disease treatment ISO RGD:620196 D RGD:9068941 20200609 RGD associated with Renal Insufficiency PMID:19063844|REF_RGD_ID:10043178 12359367 MMP13 matrix metallopeptidase 13 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:16961140|REF_RGD_ID:1582545 12359367 MMP13 matrix metallopeptidase 13 gene DOID:9000616 Metaphyseal Anadysplasia 1 ISO RGD:1343267 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Metaphyseal anadysplasia 1, autosomal dominant PMID:19615667|PMID:28492532|PMID:30439533 12359367 MMP13 matrix metallopeptidase 13 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1343267 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell;mRNA, protein:increased expression:bone PMID:18709334|REF_RGD_ID:2306080 12359367 MMP13 matrix metallopeptidase 13 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1343267 D RGD:9068941 20200609 RGD PMID:20700625|REF_RGD_ID:10043118 12359367 MMP13 matrix metallopeptidase 13 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1552243 D RGD:9068941 20200609 RGD PMID:20700625|REF_RGD_ID:10043118 12359367 MMP13 matrix metallopeptidase 13 gene DOID:9001193 Metaphyseal Anadysplasia ISO RGD:1343267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metaphyseal anadysplasia PMID:25741868|PMID:28492532 12359367 MMP13 matrix metallopeptidase 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343267 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17404313 12359367 MMP13 matrix metallopeptidase 13 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:10623612|REF_RGD_ID:10043161 12359367 MMP13 matrix metallopeptidase 13 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343267 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15138554 12359367 MMP13 matrix metallopeptidase 13 gene DOID:9002331 Knee Osteoarthritis ameliorates ISO RGD:620196 D RGD:9068941 20211015 RGD PMID:31258642|REF_RGD_ID:150519887 12359367 MMP13 matrix metallopeptidase 13 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1552243 D RGD:9068941 20200609 RGD PMID:24244039|REF_RGD_ID:8694124 12359367 MMP13 matrix metallopeptidase 13 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:11435459|REF_RGD_ID:1582329 12359367 MMP13 matrix metallopeptidase 13 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:24244039|REF_RGD_ID:8694124 12359367 MMP13 matrix metallopeptidase 13 gene DOID:9002906 Multiple Organ Failure ISO RGD:1552243 D RGD:9068941 20200609 RGD protein:increased activity:liver, lung, spleen (mouse) PMID:15259001|REF_RGD_ID:7207133 12359367 MMP13 matrix metallopeptidase 13 gene DOID:9004907 Metaphyseal Chondrodysplasia, Spahr Type ISO RGD:1343267 D RGD:7240710 20190315 OMIM 12359367 MMP13 matrix metallopeptidase 13 gene DOID:9004907 Metaphyseal Chondrodysplasia, Spahr Type ISO RGD:1343267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, Spahr type PMID:13915518|PMID:19615667|PMID:24648384|PMID:24781753|PMID:25741868|PMID:27576021|PMID:28492532|PMID:31413057 12359367 MMP13 matrix metallopeptidase 13 gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:1552243 D RGD:9068941 20200609 RGD PMID:18698413|REF_RGD_ID:2306081 12359367 MMP13 matrix metallopeptidase 13 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:620196 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cartilage PMID:22670655|REF_RGD_ID:10043109 12359367 MMP13 matrix metallopeptidase 13 gene DOID:9007482 Bone Metastasis ISO RGD:1343267 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell; mRNA, protein:increased expression:bone (human) PMID:18709334|REF_RGD_ID:2306080 12359367 MMP13 matrix metallopeptidase 13 gene DOID:9007877 Fetal Hypoxia ISO RGD:620196 D RGD:9068941 20200609 RGD protein:increased expression:heart (rat) PMID:21856922|REF_RGD_ID:7207283 12359367 MMP13 matrix metallopeptidase 13 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1343267 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17728286 12359367 MMP13 matrix metallopeptidase 13 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1343267 D RGD:9068941 20200609 RGD protein:increased expression:tumor:positive correlation with lymph node metastases (p<0.001), negative correlation with overall survival (p=0.0008) PMID:18373849|REF_RGD_ID:2293603 12359389 C27H12orf4 chromosome 27 C12orf4 homolog gene DOID:0050989 episodic ataxia type 1 ISO RGD:1322478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 12359389 C27H12orf4 chromosome 27 C12orf4 homolog gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1322478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12359389 C27H12orf4 chromosome 27 C12orf4 homolog gene DOID:0081227 autosomal recessive intellectual developmental disorder 66 ISO RGD:1322478 D RGD:7240710 20190315 OMIM 12359389 C27H12orf4 chromosome 27 C12orf4 homolog gene DOID:0081227 autosomal recessive intellectual developmental disorder 66 ISO RGD:1322478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal recessive 66 PMID:25558065|PMID:25741868|PMID:27311568|PMID:28097321|PMID:31334606 12359389 C27H12orf4 chromosome 27 C12orf4 homolog gene DOID:1059 intellectual disability ISO RGD:1322478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25558065|PMID:27311568 12359389 C27H12orf4 chromosome 27 C12orf4 homolog gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1322478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:25558065|PMID:27311568 12359389 C27H12orf4 chromosome 27 C12orf4 homolog gene DOID:630 genetic disease ISO RGD:1322478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359389 C27H12orf4 chromosome 27 C12orf4 homolog gene DOID:9005603 Muscle Hypotonia ISO RGD:1322478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:25558065|PMID:27311568 12359389 C27H12orf4 chromosome 27 C12orf4 homolog gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1322478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12359409 CALM1 calmodulin 1 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:735369 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:23040497|PMID:24563457|PMID:24816216|PMID:25557436|PMID:25741868|PMID:26164367|PMID:26309258|PMID:27165696|PMID:28492532 12359409 CALM1 calmodulin 1 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:735369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:23040497|PMID:23388215|PMID:24563457|PMID:24816216|PMID:25557436|PMID:25741868|PMID:26164367|PMID:26309258|PMID:27165696|PMID:28492532 12359409 CALM1 calmodulin 1 gene DOID:0060678 catecholaminergic polymorphic ventricular tachycardia 4 ISO RGD:735369 D RGD:7240710 20180130 OMIM 12359409 CALM1 calmodulin 1 gene DOID:0060678 catecholaminergic polymorphic ventricular tachycardia 4 ISO RGD:735369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 4 PMID:11569915|PMID:23040497|PMID:23388215|PMID:24563457|PMID:24816216|PMID:24958779|PMID:25557436|PMID:25741868|PMID:26164367|PMID:26309258|PMID:26969752|PMID:27165696|PMID:27374306|PMID:27927985|PMID:28158429|PMID:28492532 12359409 CALM1 calmodulin 1 gene DOID:0080054 achondrogenesis type IA ISO RGD:735369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12359409 CALM1 calmodulin 1 gene DOID:0110655 long QT syndrome 14 ISO RGD:735369 D RGD:7240710 20180130 OMIM 12359409 CALM1 calmodulin 1 gene DOID:0110655 long QT syndrome 14 ISO RGD:735369 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome 14 PMID:23040497|PMID:23388215|PMID:24076290|PMID:24563457|PMID:24816216|PMID:25036739|PMID:25557436|PMID:25741868|PMID:26164367|PMID:26309258|PMID:26969752|PMID:27165696|PMID:28158429|PMID:28492532|PMID:31454269 12359409 CALM1 calmodulin 1 gene DOID:10652 Alzheimer's disease ISO RGD:735369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11470324 12359409 CALM1 calmodulin 1 gene DOID:10652 Alzheimer's disease ISO RGD:735369 D RGD:9068941 20200609 RGD protein:decreased expression:cerebellar cortex: PMID:11470324|REF_RGD_ID:13792493 12359409 CALM1 calmodulin 1 gene DOID:5062 phencyclidine abuse ISO RGD:735369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 12359409 CALM1 calmodulin 1 gene DOID:9004657 Weight Gain ISO RGD:735369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12359409 CALM1 calmodulin 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 12359409 CALM1 calmodulin 1 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:735369 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia PMID:23040497|PMID:24563457|PMID:24816216|PMID:25557436|PMID:25741868|PMID:26164367|PMID:26309258|PMID:27165696|PMID:28492532 12359409 CALM1 calmodulin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2257 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:21216827|REF_RGD_ID:6892953 12359409 CALM1 calmodulin 1 gene DOID:9505 cannabis abuse ISO RGD:735369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 12359419 C9H9orf50 chromosome 9 C9orf50 homolog gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606874 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12359419 C9H9orf50 chromosome 9 C9orf50 homolog gene DOID:630 genetic disease ISO RGD:1606874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359438 OSBPL1A oxysterol binding protein like 1A gene DOID:1059 intellectual disability ISO RGD:731675 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12359438 OSBPL1A oxysterol binding protein like 1A gene DOID:630 genetic disease ISO RGD:731675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359476 C18H11orf68 chromosome 18 C11orf68 homolog gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1602858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 12359476 C18H11orf68 chromosome 18 C11orf68 homolog gene DOID:1059 intellectual disability ISO RGD:1602858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12359476 C18H11orf68 chromosome 18 C11orf68 homolog gene DOID:1909 melanoma ISO RGD:1602858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12359476 C18H11orf68 chromosome 18 C11orf68 homolog gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12359476 C18H11orf68 chromosome 18 C11orf68 homolog gene DOID:2746 glycogen storage disease V ISO RGD:1602858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12359476 C18H11orf68 chromosome 18 C11orf68 homolog gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1602858 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12359476 C18H11orf68 chromosome 18 C11orf68 homolog gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1602858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12359481 NUP43 nucleoporin 43 gene DOID:630 genetic disease ISO RGD:1605529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359493 SYN2 synapsin II gene DOID:0060041 autism spectrum disorder ISO RGD:736268 D RGD:9068941 20220825 MouseDO 12359493 SYN2 synapsin II gene DOID:0080600 COVID-19 ISO RGD:736267 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12359493 SYN2 synapsin II gene DOID:1826 epilepsy ISO RGD:736268 D RGD:9068941 20220825 MouseDO 12359493 SYN2 synapsin II gene DOID:5419 schizophrenia ISO RGD:736267 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:25741868 12359493 SYN2 synapsin II gene DOID:5419 schizophrenia susceptibility ISO RGD:736267 D RGD:7240710 20230505 OMIM 12359493 SYN2 synapsin II gene DOID:630 genetic disease ISO RGD:736267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359493 SYN2 synapsin II gene DOID:9002211 Hyperalgesia ISO RGD:736267 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18701217 12359510 UBXN7 UBX domain protein 7 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1607058 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 12359510 UBXN7 UBX domain protein 7 gene DOID:12849 autistic disorder ISO RGD:1607058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12359510 UBXN7 UBX domain protein 7 gene DOID:5419 schizophrenia ISO RGD:1607058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12359510 UBXN7 UBX domain protein 7 gene DOID:630 genetic disease ISO RGD:1607058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359525 OR8B8 olfactory receptor family 8 subfamily B member 8 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1347370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12359525 OR8B8 olfactory receptor family 8 subfamily B member 8 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1347370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12359525 OR8B8 olfactory receptor family 8 subfamily B member 8 gene DOID:5419 schizophrenia ISO RGD:1347370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12359525 OR8B8 olfactory receptor family 8 subfamily B member 8 gene DOID:630 genetic disease ISO RGD:1347370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359525 OR8B8 olfactory receptor family 8 subfamily B member 8 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1347370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12359525 OR8B8 olfactory receptor family 8 subfamily B member 8 gene DOID:9007661 Dwarfism ISO RGD:1347370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12359528 VSX2 visual system homeobox 2 gene DOID:0060835 isolated microphthalmia 6 ISO RGD:1348218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC 12359528 VSX2 visual system homeobox 2 gene DOID:0060839 isolated microphthalmia 2 ISO RGD:1348218 D RGD:7240710 20190315 OMIM 12359528 VSX2 visual system homeobox 2 gene DOID:0060839 isolated microphthalmia 2 ISO RGD:1348218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 2 PMID:10932181|PMID:11341888|PMID:15257456|PMID:16199547|PMID:17661825|PMID:20414678|PMID:21976963|PMID:23028343|PMID:24033328|PMID:25741868|PMID:26893459|PMID:26995144|PMID:27013732|PMID:28121235|PMID:28492532|PMID:30181649|PMID:3378363 12359528 VSX2 visual system homeobox 2 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1348218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 12359528 VSX2 visual system homeobox 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1348218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:21976963|PMID:24033328|PMID:26893459|PMID:28492532|PMID:30181649 12359528 VSX2 visual system homeobox 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1348218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 12359528 VSX2 visual system homeobox 2 gene DOID:1059 intellectual disability ISO RGD:1348218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12359528 VSX2 visual system homeobox 2 gene DOID:10629 microphthalmia ISO RGD:1348218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microphthalmia | ClinVar Annotator: match by term: Microphthalmos PMID:15257456|PMID:20414678|PMID:21976963|PMID:23028343|PMID:24033328|PMID:25741868|PMID:26893459|PMID:28492532|PMID:30181649 12359528 VSX2 visual system homeobox 2 gene DOID:1432 blindness susceptibility ISO RGD:1348218 D RGD:9068941 20200609 RGD microphthalmia, OMIM:251600;DNA:missense mutations: :p.R200Q , p.R200P PMID:10932181|REF_RGD_ID:734779 12359528 VSX2 visual system homeobox 2 gene DOID:630 genetic disease ISO RGD:1348218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12359528 VSX2 visual system homeobox 2 gene DOID:9003342 Microphthalmia, Cataracts, and Iris Abnormalities ISO RGD:1348218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia, cataracts, and iris abnormalities PMID:10932181|PMID:11341888|PMID:17661825|PMID:23028343|PMID:25741868|PMID:27013732|PMID:28492532 12359528 VSX2 visual system homeobox 2 gene DOID:9005041 Isolated Microphthalmia with Coloboma 3 ISO RGD:1348218 D RGD:7240710 20190315 OMIM 12359528 VSX2 visual system homeobox 2 gene DOID:9005041 Isolated Microphthalmia with Coloboma 3 ISO RGD:1348218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 3 PMID:11341888|PMID:15257456|PMID:16199547|PMID:17661825|PMID:20414678|PMID:21976963|PMID:23028343|PMID:25606400|PMID:25741868|PMID:28121235|PMID:28492532 12359543 KRT26 keratin 26 gene DOID:630 genetic disease ISO RGD:1343053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:0050563 nonsyndromic deafness ISO RGD:1606524 D RGD:9068941 20200609 RGD DNA:mutations:cds:c.457G>A(p.E53K),c.641G>A(p.R214H),c.1316delT(p.V439Vfs32)(human) PMID:26371875|REF_RGD_ID:11098120 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1606524 D RGD:9068941 20200609 RGD DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human) PMID:23526554|REF_RGD_ID:11537471 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1606524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy PMID:27541164|PMID:28492532|PMID:28663785|PMID:31112829 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:0080449 developmental and epileptic encephalopathy 16 ISO RGD:1606524 D RGD:7240710 20180130 OMIM 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:0080449 developmental and epileptic encephalopathy 16 ISO RGD:1606524 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 16 PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:25169651|PMID:25401298|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26371875|PMID:27281533|PMID:27784474|PMID:28292732|PMID:28428906|PMID:28492532|PMID:30335140|PMID:31112829|PMID:31780880 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1606524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-linked infantile spasms PMID:10574461|PMID:10741954|PMID:16199547|PMID:16855591|PMID:17576681|PMID:18414213|PMID:20727515|PMID:22277662|PMID:23184456|PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:24387994|PMID:24848745|PMID:25169651|PMID:25401298|PMID:25557349|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26207815|PMID:26371875|PMID:26467025|PMID:26668325|PMID:27259978|PMID:27281533|PMID:27502353|PMID:27541164|PMID:27669036|PMID:27784474|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:28663785|PMID:29100083|PMID:29358611|PMID:29655203|PMID:29671961|PMID:30108545|PMID:30139988|PMID:30180405|PMID:30311386|PMID:30335140|PMID:30776697|PMID:31112829|PMID:31257402|PMID:31780880|PMID:32369273|PMID:32581362|PMID:9536098 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1606524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-linked infantile spasms PMID:10574461|PMID:10741954|PMID:16199547|PMID:16855591|PMID:17576681|PMID:18414213|PMID:20727515|PMID:22277662|PMID:23184456|PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:24387994|PMID:24848745|PMID:25169651|PMID:25326637|PMID:25401298|PMID:25557349|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26207815|PMID:26371875|PMID:26467025|PMID:26668325|PMID:27259978|PMID:27281533|PMID:27502353|PMID:27541164|PMID:27669036|PMID:27784474|PMID:28072960|PMID:28252636|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:28663785|PMID:29100083|PMID:29358611|PMID:29429257|PMID:29655203|PMID:29671961|PMID:29933521|PMID:30108545|PMID:30139988|PMID:30180405|PMID:30311386|PMID:30335140|PMID:30680869|PMID:30776697|PMID:30866059|PMID:31112829|PMID:31257402|PMID:31780880|PMID:31922275|PMID:32369273|PMID:32581362|PMID:33281559|PMID:33333793|PMID:9536098 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:0080855 Parkinsonism ISO RGD:1606524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:25741868|PMID:27541164|PMID:28492532|PMID:28663785|PMID:29429257|PMID:29933521|PMID:31112829 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1606524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:0110532 autosomal recessive nonsyndromic deafness 86 ISO RGD:1606524 D RGD:7240710 20180130 OMIM 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:0110532 autosomal recessive nonsyndromic deafness 86 ISO RGD:1606524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 86 PMID:22211675|PMID:22277662|PMID:24033266|PMID:24387994|PMID:24729539|PMID:24729547|PMID:24824130|PMID:24848745|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:29358611 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:0110586 autosomal dominant nonsyndromic deafness 65 ISO RGD:1606524 D RGD:7240710 20180130 OMIM 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:0110586 autosomal dominant nonsyndromic deafness 65 ISO RGD:1606524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 65 PMID:22277662|PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:24729539|PMID:24729547|PMID:24848745|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:27502353|PMID:27669036|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:28663785|PMID:29100083|PMID:29358611|PMID:30311386|PMID:31112829|PMID:33281559 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:0111448 progressive myoclonus epilepsy 1B ISO RGD:1606524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B PMID:25401298|PMID:25741868|PMID:27281533|PMID:28492532|PMID:30335140 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:0111627 DOORS syndrome ISO RGD:1606524 D RGD:7240710 20180130 OMIM 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:0111627 DOORS syndrome ISO RGD:1606524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME | ClinVar Annotator: match by term: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME | ClinVar Annotator: match by term: DOORS syndrome PMID:20727515|PMID:22211675|PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:24387994|PMID:24729539|PMID:24729547|PMID:24824130|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26668325|PMID:27281533|PMID:27502353|PMID:27541164|PMID:27669036|PMID:28292732|PMID:28428906|PMID:28492532|PMID:28663785|PMID:29100083|PMID:30335140|PMID:31112829|PMID:31257402|PMID:31780880 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:0111645 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome ISO RGD:1606524 D RGD:7240710 20190821 OMIM 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:0111645 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome ISO RGD:1606524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome PMID:10072049|PMID:18414213|PMID:20727515|PMID:23526554|PMID:24033266|PMID:24291220|PMID:24387994|PMID:25741868|PMID:26467025|PMID:27281533|PMID:28492532|PMID:30108545|PMID:30311386|PMID:31112829|PMID:31257402|PMID:31922275|PMID:32581362 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:1059 intellectual disability ISO RGD:1606524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24291220|PMID:25401298|PMID:25741868|PMID:27281533|PMID:28492532|PMID:30335140 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:11832 visual epilepsy ISO RGD:1606524 D RGD:9068941 20220728 RGD DNA:mutation:cds:c.751T>C(p.F251L)(human) PMID:20797691|REF_RGD_ID:11537393 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:1826 epilepsy ISO RGD:1606524 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:24033266|PMID:25741868|PMID:28492532 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1606524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:308 early myoclonic encephalopathy ISO RGD:1606524 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile PMID:22277662|PMID:24033266|PMID:24291220|PMID:24848745|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:29358611|PMID:30311386 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1606524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:24033266|PMID:26467025|PMID:28492532|PMID:29358611 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:630 genetic disease ISO RGD:1606524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10574461|PMID:16855591|PMID:17576681|PMID:18414213|PMID:20727515|PMID:22277662|PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:24387994|PMID:24848745|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:26668325|PMID:27259978|PMID:27281533|PMID:27502353|PMID:27669036|PMID:28252636|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:28663785|PMID:29100083|PMID:29358611|PMID:29671961|PMID:30139988|PMID:30311386|PMID:30335140|PMID:31112829|PMID:31780880|PMID:31922275|PMID:9536098 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1606524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:9000307 Presbycusis ISO RGD:1606524 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.533C>T (p.S178L)(human) PMID:24729539|REF_RGD_ID:11537394 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:9006534 Nervous System Malformations ISO RGD:1606524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:24291220|PMID:25401298|PMID:25741868|PMID:27281533|PMID:27669036|PMID:28492532|PMID:30335140|PMID:31112829|PMID:31257402|PMID:33333793 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:9007063 Myoclonic Epilepsy, Familial Infantile ISO RGD:1606524 D RGD:7240710 20180130 OMIM 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:9007063 Myoclonic Epilepsy, Familial Infantile ISO RGD:1606524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy PMID:10574461|PMID:10741954|PMID:18414213|PMID:20727515|PMID:20797691|PMID:22277662|PMID:24033266|PMID:24291220|PMID:24848745|PMID:25741868|PMID:25769375|PMID:26207815|PMID:26371875|PMID:26467025|PMID:26668325|PMID:27259978|PMID:27281533|PMID:27784474|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:29358611|PMID:29671961|PMID:30180405|PMID:30311386|PMID:30335140|PMID:31112829 12359556 TBC1D24 TBC1 domain family member 24 gene DOID:9008086 Developmental Disabilities ISO RGD:1606524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:31922275|PMID:32581362 12359571 CERS1 ceramide synthase 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1314323 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Situs ambiguus | ClinVar Annotator: match by term: Visceral heterotaxy PMID:17924340|PMID:20413652|PMID:25741868|PMID:28492532|PMID:28991257 12359571 CERS1 ceramide synthase 1 gene DOID:0050753 cerebellar ataxia treatment ISO RGD:1622181 D RGD:9068941 20230302 RGD PMID:21625621|REF_RGD_ID:156431058 12359571 CERS1 ceramide synthase 1 gene DOID:0050866 oral squamous cell carcinoma exacerbates ISO RGD:1622181 D RGD:9068941 20230302 RGD PMID:33753723|REF_RGD_ID:156431057 12359571 CERS1 ceramide synthase 1 gene DOID:0060772 multiple types of congenital heart defects 6 ISO RGD:1314323 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 6 PMID:14648004|PMID:1792434|PMID:17924340|PMID:17936261|PMID:20413652|PMID:25741868|PMID:28492532|PMID:28991257|PMID:32144877 12359571 CERS1 ceramide synthase 1 gene DOID:0060856 right atrial isomerism ISO RGD:1314323 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Right atrial isomerism PMID:14648004|PMID:1792434|PMID:17924340|PMID:17936261|PMID:20413652|PMID:25741868|PMID:28492532|PMID:28991257|PMID:32144877 12359571 CERS1 ceramide synthase 1 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1314323 D RGD:7240710 20180130 OMIM 12359571 CERS1 ceramide synthase 1 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1314323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:17576681|PMID:17924340|PMID:19243074|PMID:20413652|PMID:24033266|PMID:24782409|PMID:25741868|PMID:28492532|PMID:28991257|PMID:30800706|PMID:9536098 12359571 CERS1 ceramide synthase 1 gene DOID:1682 congenital heart disease ISO RGD:1314323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:28492532|PMID:28991257 12359571 CERS1 ceramide synthase 1 gene DOID:630 genetic disease ISO RGD:1314323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17924340|PMID:25741868|PMID:28492532 12359571 CERS1 ceramide synthase 1 gene DOID:6406 double outlet right ventricle ISO RGD:1314323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Double outlet right ventricle PMID:17924340 12359571 CERS1 ceramide synthase 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1314323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:17924340|PMID:28492532 12359571 CERS1 ceramide synthase 1 gene DOID:758 situs inversus ISO RGD:1314323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:17924340 12359571 CERS1 ceramide synthase 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1314323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12359571 CERS1 ceramide synthase 1 gene DOID:9005775 Perinatal Asphyxia ISO RGD:1305974 D RGD:9068941 20230302 RGD PMID:23625371|REF_RGD_ID:156431056 12359571 CERS1 ceramide synthase 1 gene DOID:9007692 Insulin Resistance ameliorates ISO RGD:1622181 D RGD:9068941 20230302 RGD PMID:30605666|REF_RGD_ID:156431060 12359571 CERS1 ceramide synthase 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1314323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12359571 CERS1 ceramide synthase 1 gene DOID:9970 obesity ISO RGD:1622181 D RGD:9068941 20230302 RGD mRNA:increased expression:skeletal muscle cell PMID:30605666|REF_RGD_ID:156431060 12359595 MMP12 matrix metallopeptidase 12 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1350336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 12359595 MMP12 matrix metallopeptidase 12 gene DOID:0080322 polycystic kidney disease ISO RGD:732694 D RGD:9068941 20200609 RGD PMID:18606867|REF_RGD_ID:7241222 12359595 MMP12 matrix metallopeptidase 12 gene DOID:1059 intellectual disability ISO RGD:1350336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12359595 MMP12 matrix metallopeptidase 12 gene DOID:10608 celiac disease ISO RGD:1350336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 12359595 MMP12 matrix metallopeptidase 12 gene DOID:10941 intracranial aneurysm no_association ISO RGD:1350336 D RGD:9068941 20200609 RGD PMID:11546917|REF_RGD_ID:1582365 12359595 MMP12 matrix metallopeptidase 12 gene DOID:10983 Alport syndrome ISO RGD:732694 D RGD:9068941 20200609 RGD PMID:16816359|REF_RGD_ID:7241212 12359595 MMP12 matrix metallopeptidase 12 gene DOID:12704 ataxia telangiectasia ISO RGD:1350336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12359595 MMP12 matrix metallopeptidase 12 gene DOID:13139 crescentic glomerulonephritis ISO RGD:620195 D RGD:9068941 20200609 RGD PMID:12626598|PMID:20488952|REF_RGD_ID:2325762|REF_RGD_ID:737630 12359595 MMP12 matrix metallopeptidase 12 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1350336 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 12359595 MMP12 matrix metallopeptidase 12 gene DOID:14323 Marfan syndrome ISO RGD:1350336 D RGD:9068941 20200609 RGD associated with thoracic aortic aneurysm;protein:increased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 12359595 MMP12 matrix metallopeptidase 12 gene DOID:2349 arteriosclerosis ISO RGD:1350336 D RGD:9068941 20200609 RGD PMID:15073384|REF_RGD_ID:1582361 12359595 MMP12 matrix metallopeptidase 12 gene DOID:2349 arteriosclerosis ISO RGD:732694 D RGD:9068941 20200609 RGD PMID:16221765|REF_RGD_ID:1582354 12359595 MMP12 matrix metallopeptidase 12 gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1350336 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-82A>G (human) PMID:19628284|REF_RGD_ID:13204795 12359595 MMP12 matrix metallopeptidase 12 gene DOID:3362 coronary aneurysm susceptibility ISO RGD:1350336 D RGD:9068941 20200609 RGD PMID:12103254|REF_RGD_ID:1582363 12359595 MMP12 matrix metallopeptidase 12 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1350336 D RGD:9068941 20200609 RGD PMID:10807873|REF_RGD_ID:1582366 12359595 MMP12 matrix metallopeptidase 12 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1350336 D RGD:9068941 20200609 RGD PMID:11576837|REF_RGD_ID:2290421 12359595 MMP12 matrix metallopeptidase 12 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:620195 D RGD:9068941 20200609 RGD PMID:21894146|REF_RGD_ID:6218988 12359595 MMP12 matrix metallopeptidase 12 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1350336 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-82A>G rs2276109 (human) PMID:19321798|REF_RGD_ID:7207058 12359595 MMP12 matrix metallopeptidase 12 gene DOID:630 genetic disease ISO RGD:1350336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359595 MMP12 matrix metallopeptidase 12 gene DOID:7148 rheumatoid arthritis ISO RGD:1350336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 12359595 MMP12 matrix metallopeptidase 12 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1350336 D RGD:9068941 20200609 RGD PMID:16115023|REF_RGD_ID:1582355 12359595 MMP12 matrix metallopeptidase 12 gene DOID:7693 abdominal aortic aneurysm no_association ISO RGD:1350336 D RGD:9068941 20200609 RGD PMID:16082623|REF_RGD_ID:1582356 12359595 MMP12 matrix metallopeptidase 12 gene DOID:820 myocarditis ISO RGD:732694 D RGD:9068941 20200609 RGD PMID:16533694|REF_RGD_ID:1582352 12359595 MMP12 matrix metallopeptidase 12 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1350336 D RGD:9068941 20200609 RGD PMID:21277817|REF_RGD_ID:7241216 12359595 MMP12 matrix metallopeptidase 12 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:620195 D RGD:9068941 20200609 RGD PMID:12783419|REF_RGD_ID:1582362 12359595 MMP12 matrix metallopeptidase 12 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:732694 D RGD:9068941 20200609 RGD PMID:15654856|REF_RGD_ID:1582358 12359595 MMP12 matrix metallopeptidase 12 gene DOID:9002928 Colonic Neoplasms ISO RGD:1350336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12359595 MMP12 matrix metallopeptidase 12 gene DOID:9003281 Spontaneous Abortions ISO RGD:1350336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12359595 MMP12 matrix metallopeptidase 12 gene DOID:9004657 Weight Gain ISO RGD:1350336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12359595 MMP12 matrix metallopeptidase 12 gene DOID:9007096 Stroke ISO RGD:1350336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 12359595 MMP12 matrix metallopeptidase 12 gene DOID:9206 Barrett's esophagus ISO RGD:1350336 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-82A>G rs2276109 (human) PMID:19321798|REF_RGD_ID:7207058 12359595 MMP12 matrix metallopeptidase 12 gene DOID:9675 pulmonary emphysema ISO RGD:1350336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12634787|PMID:25106431 12359613 SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1320698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11528500|PMID:23105016|PMID:28492532 12359613 SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:0112228 lissencephaly 9 with complex brainstem malformation ISO RGD:1320698 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lissencephaly 9 with complex brainstem malformation PMID:25741868 12359613 SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1320698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12359613 SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:630 genetic disease ISO RGD:1320698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359613 SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:9000340 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM ISO RGD:1320698 D RGD:7240710 20211027 OMIM 12359613 SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:9000340 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM ISO RGD:1320698 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum PMID:25741868|PMID:31924697 12359613 SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12359613 SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1320698 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12359613 SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:9565 dextrocardia ISO RGD:1320698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dextrocardia 12359643 GABARAPL1 GABA type A receptor associated protein like 1 gene DOID:0080600 COVID-19 ISO RGD:1317596 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12359643 GABARAPL1 GABA type A receptor associated protein like 1 gene DOID:630 genetic disease ISO RGD:1317596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359651 ARL8B ADP ribosylation factor like GTPase 8B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12359662 ZNF250 zinc finger protein 250 gene DOID:630 genetic disease ISO RGD:1349906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359681 IQCK IQ motif containing K gene DOID:10652 Alzheimer's disease ISO RGD:1605300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30820047 12359681 IQCK IQ motif containing K gene DOID:630 genetic disease ISO RGD:1605300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359757 RPS10 ribosomal protein S10 gene DOID:0050553 JMP syndrome ISO RGD:733640 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12359757 RPS10 ribosomal protein S10 gene DOID:0111884 Diamond-Blackfan anemia 9 ISO RGD:733640 D RGD:7240710 20180130 OMIM 12359757 RPS10 ribosomal protein S10 gene DOID:0111884 Diamond-Blackfan anemia 9 ISO RGD:733640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 9 PMID:20116044|PMID:23718193|PMID:25741868|PMID:28492532 12359757 RPS10 ribosomal protein S10 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:733640 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16199547|PMID:17576681|PMID:20116044|PMID:20159986|PMID:23718193|PMID:25741868|PMID:28065601|PMID:28132843|PMID:28492532|PMID:9536098 12359757 RPS10 ribosomal protein S10 gene DOID:630 genetic disease ISO RGD:733640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20116044|PMID:25741868|PMID:28492532 12359757 RPS10 ribosomal protein S10 gene DOID:9007874 Liver Failure ISO RGD:621024 D RGD:9068941 20200609 RGD PMID:501300|REF_RGD_ID:11040911 12359770 DPH2 diphthamide biosynthesis 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532 12359770 DPH2 diphthamide biosynthesis 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12359770 DPH2 diphthamide biosynthesis 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532 12359770 DPH2 diphthamide biosynthesis 2 gene DOID:630 genetic disease ISO RGD:1312184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359770 DPH2 diphthamide biosynthesis 2 gene DOID:9007201 Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 2 ISO RGD:1312184 D RGD:7240710 20221123 OMIM 12359770 DPH2 diphthamide biosynthesis 2 gene DOID:9007201 Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 2 ISO RGD:1312184 D RGD:8554872 20221122 ClinVar ClinVar Annotator: match by term: DIPHTHAMIDE DEFICIENCY SYNDROME 2 | ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 PMID:25741868|PMID:27421267|PMID:32576952 12359770 DPH2 diphthamide biosynthesis 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1312184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32576952 12359781 PIGX phosphatidylinositol glycan anchor biosynthesis class X gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1343989 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 12359781 PIGX phosphatidylinositol glycan anchor biosynthesis class X gene DOID:12849 autistic disorder ISO RGD:1343989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12359781 PIGX phosphatidylinositol glycan anchor biosynthesis class X gene DOID:5419 schizophrenia ISO RGD:1343989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12359781 PIGX phosphatidylinositol glycan anchor biosynthesis class X gene DOID:630 genetic disease ISO RGD:1343989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359791 MYO1B myosin IB gene DOID:630 genetic disease ISO RGD:735320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359791 MYO1B myosin IB gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12359791 MYO1B myosin IB gene DOID:9004657 Weight Gain ISO RGD:735320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12359791 MYO1B myosin IB gene DOID:9005369 Hepatomegaly ISO RGD:735320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12359791 MYO1B myosin IB gene DOID:9256 colorectal cancer ISO RGD:735320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 12359832 KCTD3 potassium channel tetramerization domain containing 3 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1321690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12359832 KCTD3 potassium channel tetramerization domain containing 3 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1321690 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25558065 12359832 KCTD3 potassium channel tetramerization domain containing 3 gene DOID:0080600 COVID-19 ISO RGD:1321690 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12359832 KCTD3 potassium channel tetramerization domain containing 3 gene DOID:0110838 Usher syndrome type 2A ISO RGD:1321690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:21681106 12359832 KCTD3 potassium channel tetramerization domain containing 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1321690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12359832 KCTD3 potassium channel tetramerization domain containing 3 gene DOID:630 genetic disease ISO RGD:1321690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359832 KCTD3 potassium channel tetramerization domain containing 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12359855 CDR2 cerebellar degeneration related protein 2 gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:1321565 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5 PMID:25741868 12359855 CDR2 cerebellar degeneration related protein 2 gene DOID:12849 autistic disorder ISO RGD:1321565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12359855 CDR2 cerebellar degeneration related protein 2 gene DOID:5419 schizophrenia ISO RGD:1321565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12359855 CDR2 cerebellar degeneration related protein 2 gene DOID:630 genetic disease ISO RGD:1321565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359862 VTN vitronectin gene DOID:0060903 thrombosis ISO RGD:736955 D RGD:9068941 20200609 RGD PMID:15069014|REF_RGD_ID:1580815 12359862 VTN vitronectin gene DOID:11832 visual epilepsy ISO RGD:3967 D RGD:9068941 20200609 RGD PMID:8721676|REF_RGD_ID:10003102 12359862 VTN vitronectin gene DOID:12132 granulomatosis with polyangiitis ISO RGD:736955 D RGD:9068941 20200609 RGD PMID:12126637|REF_RGD_ID:1580817 12359862 VTN vitronectin gene DOID:3049 Churg-Strauss syndrome ISO RGD:736955 D RGD:9068941 20200609 RGD PMID:12126637|REF_RGD_ID:1580817 12359862 VTN vitronectin gene DOID:3393 coronary artery disease ISO RGD:736955 D RGD:9068941 20200609 RGD PMID:15678274|REF_RGD_ID:1580816 12359862 VTN vitronectin gene DOID:5082 liver cirrhosis ISO RGD:736955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 12359862 VTN vitronectin gene DOID:576 proteinuria ISO RGD:3967 D RGD:9068941 20200609 RGD associated with Mesangial Proliferative Glomerulonephritis PMID:9621282|REF_RGD_ID:10003089 12359862 VTN vitronectin gene DOID:630 genetic disease ISO RGD:736955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359862 VTN vitronectin gene DOID:8778 Crohn's disease ISO RGD:736955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19751734 12359862 VTN vitronectin gene DOID:8947 diabetic retinopathy ISO RGD:3967 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:8804356|REF_RGD_ID:10040982 12359862 VTN vitronectin gene DOID:8947 diabetic retinopathy ISO RGD:736955 D RGD:9068941 20200609 RGD PMID:7536680|REF_RGD_ID:1580818 12359862 VTN vitronectin gene DOID:9002165 Diabetic Nephropathies ISO RGD:3967 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:glomerulus PMID:11728964|REF_RGD_ID:10003096 12359862 VTN vitronectin gene DOID:9008604 Radiation Pneumonitis ISO RGD:736955 D RGD:9068941 20200609 RGD Protein: increased expression: plasma PMID:20510197|REF_RGD_ID:5129484 12359874 ECHS1 enoyl-CoA hydratase, short chain 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:734312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12359874 ECHS1 enoyl-CoA hydratase, short chain 1 gene DOID:3652 Leigh disease ISO RGD:734312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25393721|PMID:25741868|PMID:28492532|PMID:32677908|PMID:33139125|PMID:33163364 12359874 ECHS1 enoyl-CoA hydratase, short chain 1 gene DOID:630 genetic disease ISO RGD:734312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25393721|PMID:25741868|PMID:26000322|PMID:26081110|PMID:26099313|PMID:26467025|PMID:27090768|PMID:28039521|PMID:28492532|PMID:30008475|PMID:31216405|PMID:31219693|PMID:32677093|PMID:32677908|PMID:32858208 12359874 ECHS1 enoyl-CoA hydratase, short chain 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:734312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 12359874 ECHS1 enoyl-CoA hydratase, short chain 1 gene DOID:9003746 MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY ISO RGD:734312 D RGD:7240710 20180130 OMIM 12359874 ECHS1 enoyl-CoA hydratase, short chain 1 gene DOID:9003746 MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY ISO RGD:734312 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency PMID:17576681|PMID:25125611|PMID:25393721|PMID:25741868|PMID:26000322|PMID:26081110|PMID:26099313|PMID:26251176|PMID:26467025|PMID:26938784|PMID:27090768|PMID:27905109|PMID:28039521|PMID:28202214|PMID:28409271|PMID:28429146|PMID:28492532|PMID:29575569|PMID:30008475|PMID:30029642|PMID:30634555|PMID:31216405|PMID:31219693|PMID:32013919|PMID:32313153|PMID:32642440|PMID:32677093|PMID:32677908|PMID:32858208|PMID:33112498|PMID:33139125|PMID:33163364|PMID:9536098 12359874 ECHS1 enoyl-CoA hydratase, short chain 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12359874 ECHS1 enoyl-CoA hydratase, short chain 1 gene DOID:9970 obesity ISO RGD:734312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12359886 SLC35E3 solute carrier family 35 member E3 gene DOID:630 genetic disease ISO RGD:1352847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359909 CCDC85A coiled-coil domain containing 85A gene DOID:630 genetic disease ISO RGD:1605892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359921 SLC30A9 solute carrier family 30 member 9 gene DOID:630 genetic disease ISO RGD:1315097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359921 SLC30A9 solute carrier family 30 member 9 gene DOID:9007774 Birk-Landau-Perez Syndrome ISO RGD:1315097 D RGD:7240710 20190315 OMIM 12359921 SLC30A9 solute carrier family 30 member 9 gene DOID:9007774 Birk-Landau-Perez Syndrome ISO RGD:1315097 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Birk-Landau-Perez syndrome PMID:25741868|PMID:28334855|PMID:34716203 12359947 HCAR2 hydroxycarboxylic acid receptor 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1352808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21655214 12359947 HCAR2 hydroxycarboxylic acid receptor 2 gene DOID:5419 schizophrenia ISO RGD:1352808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18639743 12359947 HCAR2 hydroxycarboxylic acid receptor 2 gene DOID:630 genetic disease ISO RGD:1352808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359947 HCAR2 hydroxycarboxylic acid receptor 2 gene DOID:8893 psoriasis ISO RGD:1352808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18722346 12359947 HCAR2 hydroxycarboxylic acid receptor 2 gene DOID:9004464 Skin Neoplasms ISO RGD:1352808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21655214 12359947 HCAR2 hydroxycarboxylic acid receptor 2 gene DOID:9007763 Flushing ISO RGD:1352808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16322797 12359952 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:28492532 12359952 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy 12359952 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:0060321 umbilical hernia ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Umbilical hernia PMID:25741868 12359952 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:0060327 omphalocele ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Omphalocoele PMID:25741868 12359952 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1353726 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12359952 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:0080068 Charcot-Marie-Tooth disease type 6 ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY AND OPTIC ATROPHY 12359952 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:1353726 D RGD:7240710 20180130 OMIM 12359952 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:1353726 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 | ClinVar Annotator: match by term: Nevo syndrome PMID:10329027|PMID:10502784|PMID:10686424|PMID:10874315|PMID:11001813|PMID:1345174|PMID:14565595|PMID:15666309|PMID:15979919|PMID:16199547|PMID:16758144|PMID:17576681|PMID:19320026|PMID:21699693|PMID:22001912|PMID:222849|PMID:25277362|PMID:25326635|PMID:25637337|PMID:25640679|PMID:25741868|PMID:28306225|PMID:28384719|PMID:28492532|PMID:3110540|PMID:32174067|PMID:32381727|PMID:32746767|PMID:34265140|PMID:35252061|PMID:3931636|PMID:416188|PMID:4373475|PMID:5016372|PMID:6089551|PMID:7977351|PMID:8163671|PMID:8449506|PMID:8533783|PMID:8574422|PMID:8981946|PMID:9152832|PMID:9220536|PMID:9450904|PMID:9536098|PMID:9617436|PMID:9893157 12359952 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:10908 hydrocephalus ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:25741868 12359952 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:11383 cryptorchidism ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral cryptorchidism PMID:25741868 12359952 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1353726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:10329027|PMID:10686424|PMID:10874315|PMID:11001813|PMID:14565595|PMID:16758144|PMID:17576681|PMID:21699693|PMID:25326635|PMID:25741868|PMID:28306225|PMID:28492532|PMID:32746767|PMID:9220536|PMID:9536098|PMID:9893157 12359952 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1353726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10329027|PMID:10686424|PMID:10874315|PMID:11001813|PMID:14565595|PMID:16199547|PMID:16758144|PMID:17576681|PMID:21699693|PMID:22001912|PMID:25326635|PMID:25741868|PMID:28306225|PMID:28384719|PMID:28492532|PMID:34265140|PMID:9220536|PMID:9450904|PMID:9536098|PMID:9893157 12359952 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1353726 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10329027|PMID:10686424|PMID:10874315|PMID:11001813|PMID:14565595|PMID:16199547|PMID:16758144|PMID:17576681|PMID:21699693|PMID:22001912|PMID:25326635|PMID:25741868|PMID:28306225|PMID:28384719|PMID:28492532|PMID:32381727|PMID:34265140|PMID:35252061|PMID:9220536|PMID:9450904|PMID:9536098|PMID:9893157 12359952 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:1459 hypothyroidism ISO RGD:621382 D RGD:9068941 20200609 RGD mRNA:decreased expression:multiple organs PMID:15817667|REF_RGD_ID:2314536 12359952 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:2477 motor peripheral neuropathy ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy 12359952 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:423 myopathy ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy 12359952 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:630 genetic disease ISO RGD:1353726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12359952 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:9003358 Kyphosis ISO RGD:1353726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15666309 12359952 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:9005077 Joint Instability ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:25741868 12359952 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:25741868 12359952 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 12359975 CLDN17 claudin 17 gene DOID:630 genetic disease ISO RGD:1316669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:736969 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050451 Brugada syndrome ISO RGD:736969 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050700 cardiomyopathy ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10807545|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:18426444|PMID:19305408|PMID:19695459|PMID:19907016|PMID:20823649|PMID:21244686|PMID:21712262|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:29625280|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:8899564|PMID:9445165 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050700 cardiomyopathy ISO RGD:736969 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10807545|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:18426444|PMID:19305408|PMID:19695459|PMID:19907016|PMID:20823649|PMID:21244686|PMID:21712262|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:29625280|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:32429735|PMID:8899564|PMID:9445165 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050700 cardiomyopathy ISO RGD:736969 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:10807545|PMID:10973849|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:18426444|PMID:19305408|PMID:19695459|PMID:19907016|PMID:20823649|PMID:21244686|PMID:21712262|PMID:21907427|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24710009|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:28807990|PMID:29625280|PMID:30245029|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:32429735|PMID:8899564|PMID:9445165 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050700 cardiomyopathy ISO RGD:736969 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:10807545|PMID:10973849|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:18426444|PMID:19305408|PMID:19695459|PMID:19907016|PMID:20823649|PMID:21244686|PMID:21712262|PMID:21907427|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23098067|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24710009|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:28807990|PMID:29625280|PMID:30245029|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31941373|PMID:32429735|PMID:8899564|PMID:9445165 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0060224 atrial fibrillation ISO RGD:736969 D RGD:9068941 20200609 RGD PMID:12228786|REF_RGD_ID:1580498 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:736969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0080600 COVID-19 ISO RGD:736969 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:736969 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:736969 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:736969 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:32429735|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:736969 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:32429735|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:736969 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:32429735|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110647 long QT syndrome 5 ISO RGD:736969 D RGD:7240710 20180130 OMIM 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110647 long QT syndrome 5 ISO RGD:736969 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome 5 | ClinVar Annotator: match by term: Long QT syndrome 5, acquired, susceptibility to PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:22934933|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28176637|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31043699|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:32429735|PMID:33693037|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110648 long QT syndrome 6 ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 PMID:21626672|PMID:25640679|PMID:28492532 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24217263|PMID:28492532 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:736969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:30461122 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:1588 thrombocytopenia ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2842 Jervell-Lange Nielsen syndrome ISO RGD:736969 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2843 long QT syndrome ISO RGD:736969 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14499862|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19322600|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21152909|PMID:21244686|PMID:21576493|PMID:21712262|PMID:21854832|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23382499|PMID:23396983|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26467025|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:27871843|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32164657|PMID:32344329|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2843 long QT syndrome ISO RGD:736969 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14499862|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19322600|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21152909|PMID:21244686|PMID:21576493|PMID:21712262|PMID:21854832|PMID:21907427|PMID:21967835|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:22934933|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23382499|PMID:23396983|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24314077|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25351510|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26467025|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:27871843|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28616568|PMID:28767663|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30245029|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:30975432|PMID:31043699|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32164657|PMID:32344329|PMID:32429735|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2843 long QT syndrome ISO RGD:736969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14499862|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17130521|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19322600|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21152909|PMID:21244686|PMID:21576493|PMID:21712262|PMID:21854832|PMID:21907427|PMID:21967835|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:22934933|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23382499|PMID:23396983|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24217263|PMID:24314077|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25351510|PMID:25535795|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26467025|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27076034|PMID:27784853|PMID:27871843|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28616568|PMID:28767663|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30079003|PMID:30123799|PMID:30245029|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:30975432|PMID:31043699|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32145446|PMID:32164657|PMID:32344329|PMID:32429735|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2843 long QT syndrome susceptibility ISO RGD:736969 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.D85N(human) PMID:19695459|REF_RGD_ID:11072353 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:4440 seminoma ISO RGD:736969 D RGD:9068941 20200609 RGD PMID:15389592|REF_RGD_ID:1580497 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:6000 congestive heart failure ISO RGD:2956 D RGD:9068941 20200609 RGD associated with Myocardial Infarction (RDO:0006167); mRNA:increased expression:heart left ventricle, septum PMID:16497176|REF_RGD_ID:1642301 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:6000 congestive heart failure ISO RGD:736969 D RGD:9068941 20200609 RGD mRNA:increased expression:endocardium of right ventricle: PMID:17384445|REF_RGD_ID:12910696 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:630 genetic disease ISO RGD:736969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9000059 Long QT Syndrome 2/5 ISO RGD:736969 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2/5, digenic PMID:10807545|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:18426444|PMID:19305408|PMID:19695459|PMID:20823649|PMID:21244686|PMID:21712262|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:29625280|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:32429735|PMID:8899564|PMID:9445165 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noise induced hearing loss PMID:12402336|PMID:14661677|PMID:14760488|PMID:15599693|PMID:16487223|PMID:17161064|PMID:17210839|PMID:17597962|PMID:18426444|PMID:22581653|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7828904|PMID:9445165 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:736969 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9004538 Hearing Loss ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary hearing loss and deafness 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:736969 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:32429735|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9005444 Torsades de Pointes ISO RGD:736969 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.D85N (rs1805128)(human) PMID:22100668|REF_RGD_ID:11066279 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9007 sudden infant death syndrome ISO RGD:736969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868|PMID:28492532|PMID:30461122 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9007577 Jervell And Lange-Nielsen Syndrome 2 ISO RGD:736969 D RGD:7240710 20180130 OMIM 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9007577 Jervell And Lange-Nielsen Syndrome 2 ISO RGD:736969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 2 PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17130521|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:22934933|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29032884|PMID:29625280|PMID:29672598|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31043699|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32164657|PMID:32344329|PMID:32429735|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 12359980 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9007820 Sudden Death ISO RGD:736969 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 12359989 SCAND3 SCAN domain containing 3 gene DOID:11372 megacolon ISO RGD:1351610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12359989 SCAND3 SCAN domain containing 3 gene DOID:630 genetic disease ISO RGD:1351610 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359997 UVSSA UV stimulated scaffold protein A gene DOID:0060240 UV-sensitive syndrome ISO RGD:1605974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22466610|PMID:22466612 12359997 UVSSA UV stimulated scaffold protein A gene DOID:1856 cherubism ISO RGD:1605974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12359997 UVSSA UV stimulated scaffold protein A gene DOID:630 genetic disease ISO RGD:1605974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12359997 UVSSA UV stimulated scaffold protein A gene DOID:9006357 UV-Sensitive Syndrome 3 ISO RGD:1605974 D RGD:7240710 20180130 OMIM 12359997 UVSSA UV stimulated scaffold protein A gene DOID:9006357 UV-Sensitive Syndrome 3 ISO RGD:1605974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: UV-sensitive syndrome 3 PMID:10771487|PMID:19329487|PMID:22466610|PMID:22466612|PMID:25741868|PMID:3774595|PMID:3974603|PMID:7513056 12360030 ZNF503 zinc finger protein 503 gene DOID:630 genetic disease ISO RGD:1323782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360030 ZNF503 zinc finger protein 503 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1323782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 12360036 AMIGO1 adhesion molecule with Ig like domain 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1606525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12360036 AMIGO1 adhesion molecule with Ig like domain 1 gene DOID:12849 autistic disorder ISO RGD:1606525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12360036 AMIGO1 adhesion molecule with Ig like domain 1 gene DOID:5419 schizophrenia ISO RGD:1552604 D RGD:9068941 20200609 RGD PMID:26240432|REF_RGD_ID:11536055 12360036 AMIGO1 adhesion molecule with Ig like domain 1 gene DOID:630 genetic disease ISO RGD:1606525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360045 FBXO24 F-box protein 24 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12360045 FBXO24 F-box protein 24 gene DOID:630 genetic disease ISO RGD:1312922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360077 RTF2 replication termination factor 2 gene DOID:630 genetic disease ISO RGD:1322335 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360095 NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1319779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868|PMID:28492532 12360095 NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1319779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:20818383|PMID:24595071|PMID:25741868|PMID:28492532 12360095 NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:0112083 nuclear type mitochondrial complex I deficiency 2 ISO RGD:1319779 D RGD:7240710 20190315 OMIM 12360095 NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:0112083 nuclear type mitochondrial complex I deficiency 2 ISO RGD:1319779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 PMID:15159508|PMID:22499348|PMID:25741868|PMID:28492532|PMID:9837812 12360095 NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:1059 intellectual disability ISO RGD:1319779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12360095 NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:13533 osteopetrosis ISO RGD:1319779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteopetrosis 12360095 NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:3652 Leigh disease ISO RGD:1319779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:20818383|PMID:24595071|PMID:25326637|PMID:25741868|PMID:28492532|PMID:9837812 12360095 NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:630 genetic disease ISO RGD:1319779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20818383|PMID:25741868|PMID:28492532 12360095 NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:8398 osteoarthritis ISO RGD:1319779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12360095 NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1319779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:28492532|PMID:9837812 12360095 NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1319779 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12360095 NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319779 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12360120 DEK DEK proto-oncogene gene DOID:630 genetic disease ISO RGD:1349075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360120 DEK DEK proto-oncogene gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349075 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 12360120 DEK DEK proto-oncogene gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1349075 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21291860|PMID:27811057 12360120 DEK DEK proto-oncogene gene DOID:9006205 Animal Disease Models ISO RGD:1349075 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 12360120 DEK DEK proto-oncogene gene DOID:9008939 Breast Neoplasms ISO RGD:1349075 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 12360135 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:0060017 CD3epsilon deficiency ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12360135 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12360135 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:0080690 RASopathy ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12360135 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12360135 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:0111123 nephronophthisis 15 ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 12360135 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:0111971 immunodeficiency 18 ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12360135 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:0111972 immunodeficiency 19 ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12360135 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:0111973 immunodeficiency 17 ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12360135 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:1059 intellectual disability ISO RGD:735925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12360135 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:10652 Alzheimer's disease ISO RGD:735925 D RGD:9068941 20200609 RGD PMID:19760337|REF_RGD_ID:13801191 12360135 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:10652 Alzheimer's disease ISO RGD:735926 D RGD:9068941 20200609 RGD PMID:19760337|REF_RGD_ID:13801191 12360135 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:630 genetic disease ISO RGD:735925 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360135 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12360135 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:735925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12360135 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:9007661 Dwarfism ISO RGD:735925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12360135 FXYD6 FXYD domain containing ion transport regulator 6 gene DOID:9119 acute myeloid leukemia ISO RGD:735925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12360152 YY1 YY1 transcription factor gene DOID:1059 intellectual disability ISO RGD:736235 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12360152 YY1 YY1 transcription factor gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:11500 D RGD:9068941 20200609 RGD PMID:12754214|REF_RGD_ID:1580831 12360152 YY1 YY1 transcription factor gene DOID:14566 disease of cellular proliferation ISO RGD:736235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22467534 12360152 YY1 YY1 transcription factor gene DOID:4769 pleuropulmonary blastoma ISO RGD:11500 D RGD:9068941 20220825 MouseDO OMIM:601200 12360152 YY1 YY1 transcription factor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:736235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12360152 YY1 YY1 transcription factor gene DOID:6000 congestive heart failure ISO RGD:736235 D RGD:9068941 20200609 RGD PMID:12754214|REF_RGD_ID:1580831 12360152 YY1 YY1 transcription factor gene DOID:630 genetic disease ISO RGD:736235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28575647 12360152 YY1 YY1 transcription factor gene DOID:9000918 Disease Progression ISO RGD:736235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21792014 12360152 YY1 YY1 transcription factor gene DOID:9001966 GABRIELE-DE VRIES SYNDROME ISO RGD:736235 D RGD:7240710 20190315 OMIM 12360152 YY1 YY1 transcription factor gene DOID:9001966 GABRIELE-DE VRIES SYNDROME ISO RGD:736235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gabriele de Vries syndrome PMID:21076407|PMID:25741868|PMID:28575647 12360152 YY1 YY1 transcription factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:736235 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35445903 12360152 YY1 YY1 transcription factor gene DOID:9002514 Neointima treatment ISO RGD:3982 D RGD:9068941 20200609 RGD PMID:21030713|REF_RGD_ID:9588268 12360152 YY1 YY1 transcription factor gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:736235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21792014 12360152 YY1 YY1 transcription factor gene DOID:9003936 Cardiomegaly ISO RGD:3982 D RGD:9068941 20200609 RGD PMID:15567155|REF_RGD_ID:1580832 12360152 YY1 YY1 transcription factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736235 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12360152 YY1 YY1 transcription factor gene DOID:9538 multiple myeloma ISO RGD:736235 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038059 12360152 YY1 YY1 transcription factor gene DOID:9744 type 1 diabetes mellitus ISO RGD:3982 D RGD:9068941 20200609 RGD DNA:SNPs:intron PMID:15234341|REF_RGD_ID:9588271 12360152 YY1 YY1 transcription factor gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:3982 D RGD:9068941 20200609 RGD PMID:15619288|REF_RGD_ID:9588274 12360161 ONECUT3 one cut homeobox 3 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1351058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12360161 ONECUT3 one cut homeobox 3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1351058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12360161 ONECUT3 one cut homeobox 3 gene DOID:630 genetic disease ISO RGD:1351058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360161 ONECUT3 one cut homeobox 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12360167 SPATA24 spermatogenesis associated 24 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:3005862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12360167 SPATA24 spermatogenesis associated 24 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:3005862 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12360167 SPATA24 spermatogenesis associated 24 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:3005862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12360167 SPATA24 spermatogenesis associated 24 gene DOID:630 genetic disease ISO RGD:3005862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12360167 SPATA24 spermatogenesis associated 24 gene DOID:9003318 Keratoconus 1 ISO RGD:3005862 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Keratoconus 1 12360167 SPATA24 spermatogenesis associated 24 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:3005862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12360167 SPATA24 spermatogenesis associated 24 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:3005862 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12360186 KIF21A kinesin family member 21A gene DOID:0080143 congenital fibrosis of the extraocular muscles ISO RGD:1312975 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles | ClinVar Annotator: match by term: OPHTHALMOPLEGIA, CONGENITAL PMID:14595441|PMID:15621876|PMID:15621877|PMID:15827546|PMID:18332320|PMID:19551685|PMID:24656932|PMID:25741868|PMID:28492532 12360186 KIF21A kinesin family member 21A gene DOID:0080600 COVID-19 ISO RGD:1312975 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12360186 KIF21A kinesin family member 21A gene DOID:0081015 congenital fibrosis of the extraocular muscles 1 ISO RGD:1312975 D RGD:7240710 20180130 OMIM 12360186 KIF21A kinesin family member 21A gene DOID:0081015 congenital fibrosis of the extraocular muscles 1 ISO RGD:1312975 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS | ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b PMID:10922204|PMID:14595441|PMID:15223798|PMID:15621876|PMID:15621877|PMID:15827546|PMID:18332320|PMID:19551685|PMID:24656932|PMID:25741868|PMID:28492532 12360186 KIF21A kinesin family member 21A gene DOID:12271 aniridia ISO RGD:1312975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia PMID:26893459 12360186 KIF21A kinesin family member 21A gene DOID:5409 lung small cell carcinoma ISO RGD:1312975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 12360186 KIF21A kinesin family member 21A gene DOID:630 genetic disease ISO RGD:1312975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12360247 LRRC17 leucine rich repeat containing 17 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12360247 LRRC17 leucine rich repeat containing 17 gene DOID:630 genetic disease ISO RGD:1344845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360256 FBXO15 F-box protein 15 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1321642 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12360256 FBXO15 F-box protein 15 gene DOID:630 genetic disease ISO RGD:1321642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360256 FBXO15 F-box protein 15 gene DOID:6420 pulmonary valve stenosis ISO RGD:1321642 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12360256 FBXO15 F-box protein 15 gene DOID:8445 intestinal volvulus ISO RGD:1321642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12360256 FBXO15 F-box protein 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12360256 FBXO15 F-box protein 15 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1321642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12360282 PSMG4 proteasome assembly chaperone 4 gene DOID:630 genetic disease ISO RGD:1347146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360291 USP27X ubiquitin specific peptidase 27 X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12360291 USP27X ubiquitin specific peptidase 27 X-linked gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1350698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12360291 USP27X ubiquitin specific peptidase 27 X-linked gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1350698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12360291 USP27X ubiquitin specific peptidase 27 X-linked gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1350698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12360291 USP27X ubiquitin specific peptidase 27 X-linked gene DOID:0112036 non-syndromic X-linked intellectual disability 105 ISO RGD:1350698 D RGD:7240710 20190315 OMIM 12360291 USP27X ubiquitin specific peptidase 27 X-linked gene DOID:0112036 non-syndromic X-linked intellectual disability 105 ISO RGD:1350698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 105 PMID:25644381|PMID:25741868 12360291 USP27X ubiquitin specific peptidase 27 X-linked gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1350698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12360291 USP27X ubiquitin specific peptidase 27 X-linked gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1350698 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 12360291 USP27X ubiquitin specific peptidase 27 X-linked gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1350698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12360291 USP27X ubiquitin specific peptidase 27 X-linked gene DOID:12849 autistic disorder ISO RGD:1350698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12360291 USP27X ubiquitin specific peptidase 27 X-linked gene DOID:630 genetic disease ISO RGD:1350698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360291 USP27X ubiquitin specific peptidase 27 X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12360295 KCNK18 potassium two pore domain channel subfamily K member 18 gene DOID:630 genetic disease ISO RGD:1346775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360295 KCNK18 potassium two pore domain channel subfamily K member 18 gene DOID:6364 migraine ISO RGD:1346775 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Migraine, with or without aura, susceptibility to, 13 PMID:20871611|PMID:25741868|PMID:28492532|PMID:30573346 12360295 KCNK18 potassium two pore domain channel subfamily K member 18 gene DOID:6364 migraine susceptibility ISO RGD:1346775 D RGD:7240710 20220216 OMIM 12360376 RPS11 ribosomal protein S11 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12360376 RPS11 ribosomal protein S11 gene DOID:630 genetic disease ISO RGD:733888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360385 CNTFR ciliary neurotrophic factor receptor gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1344115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12360385 CNTFR ciliary neurotrophic factor receptor gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1344115 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12360385 CNTFR ciliary neurotrophic factor receptor gene DOID:0080942 anauxetic dysplasia ISO RGD:1344115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12360385 CNTFR ciliary neurotrophic factor receptor gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1344115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12360385 CNTFR ciliary neurotrophic factor receptor gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1344115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12360385 CNTFR ciliary neurotrophic factor receptor gene DOID:10283 prostate cancer ISO RGD:1344115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12360385 CNTFR ciliary neurotrophic factor receptor gene DOID:630 genetic disease ISO RGD:1344115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360385 CNTFR ciliary neurotrophic factor receptor gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1344115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12360385 CNTFR ciliary neurotrophic factor receptor gene DOID:9562 primary ciliary dyskinesia ISO RGD:1344115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12360385 CNTFR ciliary neurotrophic factor receptor gene DOID:9870 galactosemia ISO RGD:1344115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12360412 OCIAD1 OCIA domain containing 1 gene DOID:630 genetic disease ISO RGD:1351024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360412 OCIAD1 OCIA domain containing 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12360439 CPA1 carboxypeptidase A1 gene DOID:1485 cystic fibrosis ISO RGD:733563 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:23955596|PMID:25741868|PMID:28492532 12360439 CPA1 carboxypeptidase A1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12360439 CPA1 carboxypeptidase A1 gene DOID:4989 pancreatitis ISO RGD:733564 D RGD:9068941 20220825 MouseDO OMIM:167800 12360439 CPA1 carboxypeptidase A1 gene DOID:630 genetic disease ISO RGD:733563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12360439 CPA1 carboxypeptidase A1 gene DOID:9001191 Cadmium Poisoning ISO RGD:2388 D RGD:9068941 20211224 RGD protein:increased activity:small intestine (rat) PMID:15865404|REF_RGD_ID:1578424 12360439 CPA1 carboxypeptidase A1 gene DOID:9006190 Chronic Pancreatitis ISO RGD:733563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23955596 12360439 CPA1 carboxypeptidase A1 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:733563 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:16199547|PMID:17576681|PMID:23955596|PMID:24522117|PMID:25741868|PMID:26658419|PMID:27449771|PMID:28166811|PMID:28492532|PMID:28497564|PMID:28861620|PMID:29669919|PMID:30045879|PMID:30862690|PMID:30883245|PMID:9536098 12360453 MSMO1 methylsterol monooxygenase 1 gene DOID:630 genetic disease ISO RGD:737148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21285510 12360453 MSMO1 methylsterol monooxygenase 1 gene DOID:9002853 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis ISO RGD:737148 D RGD:7240710 20190315 OMIM 12360453 MSMO1 methylsterol monooxygenase 1 gene DOID:9002853 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis ISO RGD:737148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, congenital cataract, and psoriasiform dermatitis PMID:21285510|PMID:24144731 12360468 XBP1 X-box binding protein 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:1332312 D RGD:9068941 20220825 MouseDO 12360468 XBP1 X-box binding protein 1 gene DOID:0050770 polycystic liver disease ISO RGD:1352787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 12360468 XBP1 X-box binding protein 1 gene DOID:0060478 Zika fever ISO RGD:1332312 D RGD:9068941 20200702 RGD protein:increased expression:cerebellum, mesocephalon PMID:30241539|REF_RGD_ID:32733625 12360468 XBP1 X-box binding protein 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1352787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097666 12360468 XBP1 X-box binding protein 1 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1352787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 12360468 XBP1 X-box binding protein 1 gene DOID:10603 glucose intolerance ISO RGD:1352787 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27325692 12360468 XBP1 X-box binding protein 1 gene DOID:2377 multiple sclerosis ISO RGD:1352787 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30661753 12360468 XBP1 X-box binding protein 1 gene DOID:3070 high grade glioma ISO RGD:1352787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21138464 12360468 XBP1 X-box binding protein 1 gene DOID:5154 borna disease ISO RGD:1303073 D RGD:9068941 20200702 RGD mRNA,protein:altered expression:cerebellum,hippocampus PMID:16912310|REF_RGD_ID:32733622 12360468 XBP1 X-box binding protein 1 gene DOID:630 genetic disease ISO RGD:1352787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360468 XBP1 X-box binding protein 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1352787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 12360468 XBP1 X-box binding protein 1 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1352787 D RGD:9068941 20200702 RGD mRNA, protein:decreased expression:liver PMID:26234401|REF_RGD_ID:32716425 12360468 XBP1 X-box binding protein 1 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1352787 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 12360468 XBP1 X-box binding protein 1 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:1303073 D RGD:9068941 20200702 RGD PMID:31836774|REF_RGD_ID:32733624 12360468 XBP1 X-box binding protein 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1352787 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30661753 12360468 XBP1 X-box binding protein 1 gene DOID:9006048 Major Affective Disorder 7 ISO RGD:1352787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Major affective disorder 7 12360468 XBP1 X-box binding protein 1 gene DOID:9006048 Major Affective Disorder 7 susceptibility ISO RGD:1352787 D RGD:7240710 20190502 OMIM 12360468 XBP1 X-box binding protein 1 gene DOID:9007692 Insulin Resistance ISO RGD:1332312 D RGD:9068941 20200609 RGD PMID:15486293|REF_RGD_ID:2326004 12360468 XBP1 X-box binding protein 1 gene DOID:9007692 Insulin Resistance ISO RGD:1352787 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27325692 12360468 XBP1 X-box binding protein 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1352787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 12360468 XBP1 X-box binding protein 1 gene DOID:9452 fatty liver disease ISO RGD:1352787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097666 12360477 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:0060041 autism spectrum disorder ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12360477 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1604368 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12360477 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1604368 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12360477 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:1059 intellectual disability ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12360477 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:11198 DiGeorge syndrome ISO RGD:1604368 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12360477 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:11372 megacolon ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12360477 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:12583 velocardiofacial syndrome ISO RGD:1604368 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12360477 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:12849 autistic disorder ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12360477 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:1826 epilepsy ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12360477 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:2213 hemorrhagic disease ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 12360477 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:5419 schizophrenia ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12360477 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:612 primary immunodeficiency disease ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12360477 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:630 genetic disease ISO RGD:1604368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360477 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:9003871 Venous Thrombosis ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 12360477 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12360477 TRMT2A tRNA methyltransferase 2 homolog A gene DOID:9007661 Dwarfism ISO RGD:1604368 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12360495 SMCO2 single-pass membrane protein with coiled-coil domains 2 gene DOID:630 genetic disease ISO RGD:2303335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360512 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12360512 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 12360512 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12360512 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12360512 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:0080420 developmental and epileptic encephalopathy 62 ISO RGD:736601 D RGD:7240710 20190315 OMIM 12360512 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:0080420 developmental and epileptic encephalopathy 62 ISO RGD:736601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 62 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 62 | ClinVar Annotator: match by term: SCN3A-related neurodevelopmental disorder PMID:16199547|PMID:17576681|PMID:25741868|PMID:26467025|PMID:28235671|PMID:28492532|PMID:29466837|PMID:29740860|PMID:30146301|PMID:30542205|PMID:30904718|PMID:32515017|PMID:34081427|PMID:9536098 12360512 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12360512 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:0080918 polymicrogyria ISO RGD:736601 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:25741868|PMID:28235671|PMID:28492532|PMID:29466837|PMID:29740860|PMID:30146301|PMID:30904718|PMID:32515017|PMID:34081427 12360512 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:21893419|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27153334|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12360512 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 12360512 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:0111112 nephronophthisis 1 ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 12360512 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:0111295 generalized epilepsy with febrile seizures plus 7 ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12360512 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:0111321 idiopathic generalized epilepsy 7 ISO RGD:736601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 PMID:25741868 12360512 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12360512 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:1059 intellectual disability ISO RGD:736601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12360512 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:12382 complex partial epilepsy ISO RGD:736601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18242854 12360512 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:12712 nephronophthisis ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 12360512 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial neonatal seizures PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 12360512 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:1826 epilepsy ISO RGD:736601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12360512 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:630 genetic disease ISO RGD:736601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10051516|PMID:22787448|PMID:24157691|PMID:25741868|PMID:28492532|PMID:29466837|PMID:32515017 12360512 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3635 D RGD:9068941 20200609 RGD PMID:16109750|PMID:16718433|REF_RGD_ID:2317320|REF_RGD_ID:2317321 12360512 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736601 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12360512 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:9009166 Familial Focal Epilepsy, with Variable Foci 4 ISO RGD:736601 D RGD:7240710 20190315 OMIM 12360512 SCN3A sodium voltage-gated channel alpha subunit 3 gene DOID:9009166 Familial Focal Epilepsy, with Variable Foci 4 ISO RGD:736601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 4 | ClinVar Annotator: match by term: SCN3A- Related Disorder PMID:18242854|PMID:20420834|PMID:24157691|PMID:24157694|PMID:25741868|PMID:26467025|PMID:28235671|PMID:28492532|PMID:29466837|PMID:29740860|PMID:30146301|PMID:30904718|PMID:32515017|PMID:34081427 12360543 TBCE tubulin folding cofactor E gene DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome ISO RGD:1313614 D RGD:7240710 20180130 OMIM 12360543 TBCE tubulin folding cofactor E gene DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome ISO RGD:1313614 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome PMID:12389028|PMID:12389029|PMID:16199547|PMID:16938882|PMID:17576681|PMID:20152369|PMID:25097779|PMID:25741868|PMID:26231322|PMID:26336027|PMID:27666369|PMID:28492532|PMID:30080992|PMID:30638765|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:9536098 12360543 TBCE tubulin folding cofactor E gene DOID:0080722 Kenny-Caffey syndrome type 1 ISO RGD:1313614 D RGD:7240710 20180130 OMIM 12360543 TBCE tubulin folding cofactor E gene DOID:0080722 Kenny-Caffey syndrome type 1 ISO RGD:1313614 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome | ClinVar Annotator: match by term: Kenny-Caffey syndrome type 1 PMID:12389028|PMID:15645691|PMID:16199547|PMID:2001103|PMID:20152369|PMID:25097779|PMID:25741868|PMID:26231322|PMID:26336027|PMID:27666369|PMID:28492532|PMID:30080992|PMID:30638765|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:7538982|PMID:9475091 12360543 TBCE tubulin folding cofactor E gene DOID:0080723 Kenny-Caffey syndrome type 2 ISO RGD:1313614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12389028 12360543 TBCE tubulin folding cofactor E gene DOID:0111230 congenital muscular dystrophy-dystroglycanopathy type A11 ISO RGD:1313614 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 PMID:23453667|PMID:25326637|PMID:25741868|PMID:28492532 12360543 TBCE tubulin folding cofactor E gene DOID:104 bacterial infectious disease ISO RGD:1313614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12389028 12360543 TBCE tubulin folding cofactor E gene DOID:10907 microcephaly ISO RGD:1313614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12360543 TBCE tubulin folding cofactor E gene DOID:11199 hypoparathyroidism ISO RGD:1313614 D RGD:9068941 20200609 RGD hypoparathyroidism-retardation-dysmorphism syndrome, OMIM:241410 PMID:12389028|REF_RGD_ID:1599303 12360543 TBCE tubulin folding cofactor E gene DOID:1540 parathyroid carcinoma ISO RGD:1313614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12360543 TBCE tubulin folding cofactor E gene DOID:1923 disorder of sexual development ISO RGD:1313614 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation PMID:16199547|PMID:25741868|PMID:27666369|PMID:28492532|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193 12360543 TBCE tubulin folding cofactor E gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1313614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:28492532 12360543 TBCE tubulin folding cofactor E gene DOID:4254 osteosclerosis ISO RGD:1313614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12389028 12360543 TBCE tubulin folding cofactor E gene DOID:630 genetic disease ISO RGD:1313614 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12389028|PMID:15645691|PMID:16199547|PMID:17576681|PMID:2001103|PMID:25741868|PMID:27666369|PMID:28492532|PMID:7538982|PMID:9475091|PMID:9536098 12360543 TBCE tubulin folding cofactor E gene DOID:9001487 Facies ISO RGD:1313614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12389028 12360543 TBCE tubulin folding cofactor E gene DOID:9005242 Progressive Encephalopathy with Amyotrophy and Optic Atrophy ISO RGD:1313614 D RGD:7240710 20190315 OMIM 12360543 TBCE tubulin folding cofactor E gene DOID:9005242 Progressive Encephalopathy with Amyotrophy and Optic Atrophy ISO RGD:1313614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy PMID:25741868|PMID:27666369|PMID:28492532|PMID:34134906 12360543 TBCE tubulin folding cofactor E gene DOID:9007661 Dwarfism ISO RGD:1313614 D RGD:9068941 20200609 RGD Kenny-Caffey syndrome , OMIM:244460 PMID:12389028|REF_RGD_ID:1599303 12360543 TBCE tubulin folding cofactor E gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1313614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12389028 12360543 TBCE tubulin folding cofactor E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12360575 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:0050453 lissencephaly ISO RGD:1349260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly PMID:10441340|PMID:10583396|PMID:10727864|PMID:11115846|PMID:11502906|PMID:12885786|PMID:12885796|PMID:14581661|PMID:15007136|PMID:1671808|PMID:17576681|PMID:17664403|PMID:18414213|PMID:19667223|PMID:19808989|PMID:21410694|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26494205|PMID:26633545|PMID:27891766|PMID:28492532|PMID:29671837|PMID:32238909|PMID:33176815|PMID:9063735|PMID:9147889|PMID:9536098|PMID:9817918|PMID:9860301 12360575 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:0050453 lissencephaly severity ISO RGD:1349260 D RGD:9068941 20200609 RGD DNA:mutations:: PMID:11115846|REF_RGD_ID:11073221 12360575 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1349260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:25741868 12360575 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:0060469 Miller-Dieker lissencephaly syndrome ISO RGD:1622377 D RGD:9068941 20220825 MouseDO OMIM:247200 12360575 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:0111169 subcortical band heterotopia ISO RGD:1349260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Subcortical band heterotopia PMID:10441340|PMID:11115846|PMID:11502906|PMID:14581661|PMID:1671808|PMID:18414213|PMID:25741868|PMID:28492532|PMID:29671837 12360575 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:0112237 lissencephaly 1 ISO RGD:1349260 D RGD:7240710 20210331 OMIM 12360575 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:1059 intellectual disability ISO RGD:1349260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:11115846|PMID:14581661|PMID:1671808|PMID:18414213|PMID:25741868|PMID:28492532|PMID:29671837|PMID:9817918 12360575 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:11832 visual epilepsy disease_progression ISO RGD:620331 D RGD:9068941 20200609 RGD PMID:10398295|REF_RGD_ID:12790965 12360575 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:5419 schizophrenia ISO RGD:1349260 D RGD:9068941 20200609 RGD mRNA:decreased expression:hipocampus,dorsolateral prefrontal cortex: PMID:16510495|REF_RGD_ID:12790585 12360575 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:630 genetic disease ISO RGD:1349260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10583396|PMID:11115846|PMID:17664403|PMID:18414213|PMID:25741868|PMID:27891766|PMID:28492532|PMID:29671837 12360575 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1349260 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver: PMID:21569763|REF_RGD_ID:12790589 12360575 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:8927 learning disability ISO RGD:1622377 D RGD:9068941 20200609 RGD PMID:10541472|REF_RGD_ID:12790586 12360575 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1349260 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:28492532 12360575 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:9005501 Abnormal Cortical Gyration ISO RGD:1349260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal cortical gyration PMID:25741868 12360575 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1349260 D RGD:9068941 20200609 RGD PMID:1754098|REF_RGD_ID:1601499 12360575 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:9007702 Carcinogenesis ISO RGD:1349260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24487275 12360575 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:9008500 Classical Lissencephalies and Subcortical Band Heterotopias ISO RGD:1349260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia 12360575 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:9923 developmental coordination disorder ISO RGD:1622377 D RGD:9068941 20200609 RGD PMID:10541472|REF_RGD_ID:12790586 12360593 KLC2 kinesin light chain 2 gene DOID:0050753 cerebellar ataxia ISO RGD:1603973 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 12360593 KLC2 kinesin light chain 2 gene DOID:0060491 SPOAN syndrome ISO RGD:1603973 D RGD:7240710 20190315 OMIM 12360593 KLC2 kinesin light chain 2 gene DOID:0060491 SPOAN syndrome ISO RGD:1603973 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SPOAN syndrome PMID:24482476|PMID:25741868|PMID:26385635|PMID:28492532 12360593 KLC2 kinesin light chain 2 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1603973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 12360593 KLC2 kinesin light chain 2 gene DOID:1059 intellectual disability ISO RGD:1603973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12360593 KLC2 kinesin light chain 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12360593 KLC2 kinesin light chain 2 gene DOID:2746 glycogen storage disease V ISO RGD:1603973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12360593 KLC2 kinesin light chain 2 gene DOID:630 genetic disease ISO RGD:1603973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12360593 KLC2 kinesin light chain 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1603973 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12360593 KLC2 kinesin light chain 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1603973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12360613 FKBP2 FKBP prolyl isomerase 2 gene DOID:630 genetic disease ISO RGD:1349147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360647 LRRC31 leucine rich repeat containing 31 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1346329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 12360647 LRRC31 leucine rich repeat containing 31 gene DOID:1062 Fanconi syndrome ISO RGD:1346329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 12360647 LRRC31 leucine rich repeat containing 31 gene DOID:630 genetic disease ISO RGD:1346329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360669 GPSM2 G protein signaling modulator 2 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1351498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:20602914|PMID:22578326|PMID:30303587|PMID:32747562 12360669 GPSM2 G protein signaling modulator 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1351498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12360669 GPSM2 G protein signaling modulator 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1351498 D RGD:9068941 20200609 RGD DNA:nonsense mutation:cds:p.R127X(human) PMID:20602914|REF_RGD_ID:11552577 12360669 GPSM2 G protein signaling modulator 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1351498 D RGD:9068941 20200609 RGD DNA:nonsense mutation:exon:c.1684C>T(p.Q562X(human) PMID:21348867|REF_RGD_ID:11552574 12360669 GPSM2 G protein signaling modulator 2 gene DOID:12849 autistic disorder ISO RGD:1351498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12360669 GPSM2 G protein signaling modulator 2 gene DOID:630 genetic disease ISO RGD:1351498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12360669 GPSM2 G protein signaling modulator 2 gene DOID:9000177 Chudley-Mccullough syndrome ISO RGD:1351498 D RGD:7240710 20180130 OMIM 12360669 GPSM2 G protein signaling modulator 2 gene DOID:9000177 Chudley-Mccullough syndrome ISO RGD:1351498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chudley-McCullough syndrome | ClinVar Annotator: match by term: Deafness, autosomal recessive 82 | ClinVar Annotator: match by term: Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction PMID:10449658|PMID:20602914|PMID:21348867|PMID:22578326|PMID:22987632|PMID:23208854|PMID:23494849|PMID:24033266|PMID:25741868|PMID:26445815|PMID:26467025|PMID:28492532|PMID:32747562 12360669 GPSM2 G protein signaling modulator 2 gene DOID:9004538 Hearing Loss ISO RGD:1351498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:30311386 12360669 GPSM2 G protein signaling modulator 2 gene DOID:9008681 Deafness ISO RGD:1351498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 12360697 DCST1 DC-STAMP domain containing 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12360697 DCST1 DC-STAMP domain containing 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1602181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12360697 DCST1 DC-STAMP domain containing 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1602181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12360697 DCST1 DC-STAMP domain containing 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1602181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12360697 DCST1 DC-STAMP domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12360697 DCST1 DC-STAMP domain containing 1 gene DOID:5812 MHC class II deficiency ISO RGD:1602181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12360697 DCST1 DC-STAMP domain containing 1 gene DOID:630 genetic disease ISO RGD:1602181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360697 DCST1 DC-STAMP domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12360724 LOC607393 neurexophilin-4 gene DOID:630 genetic disease ISO RGD:736634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360724 LOC607393 neurexophilin-4 gene DOID:6846 familial melanoma ISO RGD:736634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 12360728 GAS8 growth arrest specific 8 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1317230 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12360728 GAS8 growth arrest specific 8 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1317230 D RGD:7240710 20190315 OMIM 12360728 GAS8 growth arrest specific 8 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1317230 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:16199547|PMID:17576681|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26387594|PMID:27472056|PMID:28492532|PMID:9536098 12360728 GAS8 growth arrest specific 8 gene DOID:12849 autistic disorder ISO RGD:1317230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12360728 GAS8 growth arrest specific 8 gene DOID:13636 Fanconi anemia ISO RGD:1317230 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 12360728 GAS8 growth arrest specific 8 gene DOID:630 genetic disease ISO RGD:1317230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12360728 GAS8 growth arrest specific 8 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317230 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 12360752 GLYATL3 glycine-N-acyltransferase like 3 gene DOID:630 genetic disease ISO RGD:1348263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360765 TEX35 testis expressed 35 gene DOID:1540 parathyroid carcinoma ISO RGD:1348676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12360765 TEX35 testis expressed 35 gene DOID:630 genetic disease ISO RGD:1348676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360765 TEX35 testis expressed 35 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1348676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12360765 TEX35 testis expressed 35 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12360789 C1D C1D nuclear receptor corepressor gene DOID:630 genetic disease ISO RGD:1607075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360802 WDR5B WD repeat domain 5B gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1318414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12360802 WDR5B WD repeat domain 5B gene DOID:630 genetic disease ISO RGD:1318414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360802 WDR5B WD repeat domain 5B gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1318414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12360802 WDR5B WD repeat domain 5B gene DOID:9270 alkaptonuria ISO RGD:1318414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12360808 IGSF8 immunoglobulin superfamily member 8 gene DOID:0060178 familial hemiplegic migraine ISO RGD:1322991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 12360808 IGSF8 immunoglobulin superfamily member 8 gene DOID:0060484 EAST syndrome ISO RGD:1322991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EAST syndrome PMID:28492532 12360808 IGSF8 immunoglobulin superfamily member 8 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1322991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12360808 IGSF8 immunoglobulin superfamily member 8 gene DOID:1540 parathyroid carcinoma ISO RGD:1322991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12360808 IGSF8 immunoglobulin superfamily member 8 gene DOID:630 genetic disease ISO RGD:1322991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360808 IGSF8 immunoglobulin superfamily member 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12360823 E2F2 E2F transcription factor 2 gene DOID:0080600 COVID-19 ISO RGD:1348982 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12360823 E2F2 E2F transcription factor 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1348982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 12360823 E2F2 E2F transcription factor 2 gene DOID:630 genetic disease ISO RGD:1348982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360823 E2F2 E2F transcription factor 2 gene DOID:9000918 Disease Progression ISO RGD:1348982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 12360823 E2F2 E2F transcription factor 2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1348982 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12360823 E2F2 E2F transcription factor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1616520 D RGD:9068941 20200609 RGD E2f1/E2f2 double knockout PMID:15146237|REF_RGD_ID:1300306 12360835 RGS16 regulator of G protein signaling 16 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1343291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12360835 RGS16 regulator of G protein signaling 16 gene DOID:0080600 COVID-19 ISO RGD:1343291 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12360835 RGS16 regulator of G protein signaling 16 gene DOID:1540 parathyroid carcinoma ISO RGD:1343291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12360835 RGS16 regulator of G protein signaling 16 gene DOID:630 genetic disease ISO RGD:1343291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360835 RGS16 regulator of G protein signaling 16 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1343291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12360835 RGS16 regulator of G protein signaling 16 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12360846 MIR1839 microRNA mir-1839 gene DOID:13938 amenorrhea ISO RGD:1602761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12360846 MIR1839 microRNA mir-1839 gene DOID:2717 Bloom syndrome ISO RGD:1602761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12360846 MIR1839 microRNA mir-1839 gene DOID:9256 colorectal cancer ISO RGD:1602761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12360875 DMRT2 doublesex and mab-3 related transcription factor 2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1319169 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12360875 DMRT2 doublesex and mab-3 related transcription factor 2 gene DOID:14447 gonadal dysgenesis ISO RGD:1319169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gonadal agenesis PMID:25741868 12360875 DMRT2 doublesex and mab-3 related transcription factor 2 gene DOID:630 genetic disease ISO RGD:1319169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12360884 SRSF3 serine and arginine rich splicing factor 3 gene DOID:0050553 JMP syndrome ISO RGD:1319459 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12360884 SRSF3 serine and arginine rich splicing factor 3 gene DOID:2152 ovary epithelial cancer ISO RGD:1319459 D RGD:9068941 20200609 RGD mRNA:increased expression:epithelium of female gonad (human) PMID:23748175|REF_RGD_ID:11039469 12360884 SRSF3 serine and arginine rich splicing factor 3 gene DOID:3312 bipolar disorder ISO RGD:1319459 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:18281098|REF_RGD_ID:11039413 12360884 SRSF3 serine and arginine rich splicing factor 3 gene DOID:630 genetic disease ISO RGD:1319459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360884 SRSF3 serine and arginine rich splicing factor 3 gene DOID:9002498 Wallerian Degeneration ISO RGD:1309233 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:8568916|REF_RGD_ID:10059662 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:70498 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:liver (rat) treatment with INT-767 PMID:30038487|REF_RGD_ID:15092090 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:0081154 common variable immunodeficiency 12 ISO RGD:730892 D RGD:7240710 20180130 OMIM 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:0081154 common variable immunodeficiency 12 ISO RGD:730892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 PMID:11583829|PMID:16199547|PMID:16639407|PMID:25741868|PMID:26279205|PMID:27365489|PMID:28492532|PMID:29077208|PMID:29477724|PMID:31803180|PMID:32278790|PMID:32499645|PMID:32581362|PMID:32918165|PMID:34447408|PMID:9383370 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:730892 D RGD:9068941 20200609 RGD PMID:26068031|REF_RGD_ID:11054182 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:730892 D RGD:9068941 20200609 RGD DNA:indel:promoter PMID:26788504|REF_RGD_ID:11554936 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:10283 prostate cancer treatment ISO RGD:730892 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :multiple PMID:28797847|REF_RGD_ID:13506729 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:10534 stomach cancer ISO RGD:730892 D RGD:9068941 20210528 RGD human cells in mouse model; associated with mental depression; protein:increased phosphorylation:stomach (human) PMID:31396300|REF_RGD_ID:126908003 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:12155 lymphocytic choriomeningitis severity ISO RGD:730893 D RGD:9068941 20201218 RGD PMID:20565293|REF_RGD_ID:40902858 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:12177 common variable immunodeficiency ISO RGD:730892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:25741868|PMID:26279205|PMID:28492532|PMID:29477724|PMID:32278790|PMID:32499645|PMID:32581362|PMID:32918165 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:12236 primary biliary cholangitis ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:70498 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:12858 Huntington's disease severity ISO RGD:730893 D RGD:9068941 20200609 RGD PMID:11211235|REF_RGD_ID:10045663 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:1324 lung cancer disease_progression ISO RGD:730892 D RGD:9068941 20220224 RGD PMID:26300007|REF_RGD_ID:11535492 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:1324 lung cancer exacerbates ISO RGD:730893 D RGD:9068941 20220224 RGD PMID:26300007|REF_RGD_ID:11535492 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:1596 depressive disorder ISO RGD:730893 D RGD:9068941 20210528 RGD protein:increased phosphorylation:hippocampus (mouse) PMID:31396300|REF_RGD_ID:126908003 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:1612 breast cancer treatment ISO RGD:730892 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :multiple PMID:28797847|REF_RGD_ID:13506729 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:1909 melanoma ISO RGD:730892 D RGD:9068941 20200609 RGD DNA:insertion(s) PMID:17492467|REF_RGD_ID:2298900 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:224 transient cerebral ischemia ISO RGD:70498 D RGD:9068941 20200609 RGD protein:increased expression:hippocampal pyramidal neuron, nucleus (rat) PMID:9158652|REF_RGD_ID:10045943 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:2316 brain ischemia ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18628779 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:299 adenocarcinoma ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028472 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:3021 acute kidney failure ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29286200 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:321 tropical spastic paraparesis susceptibility ISO RGD:730892 D RGD:9068941 20201218 RGD DNA:SNP:5'utr: (rs3138045) (human) PMID:22170554|REF_RGD_ID:39018559 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:3633 beta-mannosidosis ISO RGD:730892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730892 D RGD:9068941 20200609 RGD protein:increased expression:nucleus PMID:17899287|REF_RGD_ID:13793391 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:730892 D RGD:9068941 20200609 RGD DNA:polymorphism:rs28362491(human) PMID:26221384|REF_RGD_ID:13793390 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:730892 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (human) PMID:27919956|REF_RGD_ID:13451128 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:409 liver disease ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15743782 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:5119 ovarian cyst ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:612 primary immunodeficiency disease ISO RGD:730892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868|PMID:26279205|PMID:28492532|PMID:29077208|PMID:29403474|PMID:29477724|PMID:31803180|PMID:32499645|PMID:32581362|PMID:32918165 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:630 genetic disease ISO RGD:730892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:649 prion disease severity ISO RGD:730893 D RGD:9068941 20201218 RGD PMID:17573907|REF_RGD_ID:40902830 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730892 D RGD:9068941 20201211 RGD associated with Chronic Hepatitis B;DNA:insertion/deletion:3'utr: -94ins/delATTG (rs28720239) (human) PMID:19797428|REF_RGD_ID:40400751 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:70498 D RGD:9068941 20220520 RGD PMID:25999787|REF_RGD_ID:152177911 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:783 end stage renal disease ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:8929 atrophic gastritis severity ISO RGD:730893 D RGD:9068941 20201218 RGD associated with Helicobacter Infections PMID:23975431|REF_RGD_ID:40902973 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730892 D RGD:9068941 20200609 RGD associated with prostate cancer PMID:17974971|REF_RGD_ID:13506764 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9001455 Intestinal Helminthiasis disease_progression ISO RGD:730893 D RGD:9068941 20201225 RGD PMID:12370384|REF_RGD_ID:40902988 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9001479 Cerebral Toxoplasmosis severity ISO RGD:730893 D RGD:9068941 20201218 RGD PMID:20156658|REF_RGD_ID:40902838 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9002189 High Myopia ISO RGD:730892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:70498 D RGD:9068941 20200609 RGD protein:increased activity:striatum PMID:17250675|REF_RGD_ID:2302394 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028472|PMID:20715105 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:730892 D RGD:9068941 20201225 RGD DNA:insertion:promoter: -94insATTG (rs28362491) (human) PMID:26827631|REF_RGD_ID:11572306 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9004649 Heat Stroke ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9004912 Hyperoxaluria ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284884 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:730892 D RGD:9068941 20201218 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26541527|REF_RGD_ID:40902860 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:730892 D RGD:9068941 20201225 RGD associated with tuberculosis ;DNA:SNPs,haplotypes: 3'utr,5'utr: (rs78872571,rs4647992) (human) PMID:31490979|REF_RGD_ID:40902984 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:70498 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:730893 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20516118|PMID:28823542 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9008865 Entamoebiasis severity ISO RGD:730893 D RGD:9068941 20201218 RGD PMID:20086086|REF_RGD_ID:40902842 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9256 colorectal cancer ISO RGD:730893 D RGD:9068941 20201218 RGD associated with Experimental Colitis PMID:25727407|REF_RGD_ID:40902978 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17107852 12360894 NFKB1 nuclear factor kappa B subunit 1 gene DOID:9452 fatty liver disease ISO RGD:70498 D RGD:9068941 20200609 RGD PMID:21643627|REF_RGD_ID:5135028 12360921 TOPBP1 DNA topoisomerase II binding protein 1 gene DOID:630 genetic disease ISO RGD:1321299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360921 TOPBP1 DNA topoisomerase II binding protein 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1321299 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868 12360921 TOPBP1 DNA topoisomerase II binding protein 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1321299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18006695 12360921 TOPBP1 DNA topoisomerase II binding protein 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1321299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12360921 TOPBP1 DNA topoisomerase II binding protein 1 gene DOID:9270 alkaptonuria ISO RGD:1321299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12360966 ABCB9 ATP binding cassette subfamily B member 9 gene DOID:630 genetic disease ISO RGD:733003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12360991 FAM76A family with sequence similarity 76 member A gene DOID:630 genetic disease ISO RGD:1604511 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361004 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:0050730 coenzyme Q10 deficiency disease ISO RGD:1603662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary PMID:16116126|PMID:16400613|PMID:17332895|PMID:17374725|PMID:17420317|PMID:17855635|PMID:20495179|PMID:20689595|PMID:23349334|PMID:23758206|PMID:24988567|PMID:25349199|PMID:25525159|PMID:25548529|PMID:25594503|PMID:25741868|PMID:27493029|PMID:28492532|PMID:29127259|PMID:29637272|PMID:29869118|PMID:30295827|PMID:30613928 12361004 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1603662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 12361004 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:0070238 primary coenzyme Q10 deficiency 1 ISO RGD:1603662 D RGD:7240710 20180130 OMIM 12361004 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:0070238 primary coenzyme Q10 deficiency 1 ISO RGD:1603662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1 PMID:16116126|PMID:16400613|PMID:17332895|PMID:17374725|PMID:17420317|PMID:17855635|PMID:20495179|PMID:20689595|PMID:23343605|PMID:23349334|PMID:23758206|PMID:24033266|PMID:24988567|PMID:25349199|PMID:25373618|PMID:25525159|PMID:25548529|PMID:25594503|PMID:25741868|PMID:27493029|PMID:28492532|PMID:28780565|PMID:29127259|PMID:29637272|PMID:29869118|PMID:30180404|PMID:30295827|PMID:30613928|PMID:32604935|PMID:32746448 12361004 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:10603 glucose intolerance ISO RGD:1306722 D RGD:9068941 20200609 RGD associated with obesity PMID:26296322|REF_RGD_ID:10755343 12361004 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:1184 nephrotic syndrome ISO RGD:1603662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:17855635|PMID:20495179|PMID:20689595|PMID:23349334|PMID:25349199|PMID:25741868|PMID:27493029|PMID:28492532|PMID:29127259|PMID:29637272|PMID:29869118|PMID:30295827 12361004 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1603662 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:24033266|PMID:25741868|PMID:28492532 12361004 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:4752 multiple system atrophy ISO RGD:1603662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple system atrophy PMID:17420317|PMID:23758206|PMID:24988567|PMID:24988568|PMID:24988569|PMID:25548529|PMID:25594503|PMID:25741868|PMID:27493029|PMID:28492532|PMID:30613928 12361004 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:557 kidney disease ISO RGD:1603662 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868 12361004 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:630 genetic disease ISO RGD:1603662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17420317|PMID:17855635|PMID:20495179|PMID:20689595|PMID:23349334|PMID:23758206|PMID:24988567|PMID:25349199|PMID:25548529|PMID:25594503|PMID:25741868|PMID:27394078|PMID:27493029|PMID:28492532|PMID:29127259|PMID:29637272|PMID:29869118|PMID:30295827|PMID:30613928|PMID:32746448 12361004 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:9002322 Shy-Drager Syndrome ISO RGD:1603662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Shy-Drager syndrome PMID:17420317|PMID:23758206|PMID:24988567|PMID:25548529|PMID:25594503|PMID:25741868|PMID:27493029|PMID:28492532|PMID:30613928 12361004 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:9007501 Multiple System Atrophy (MSA) with Orthostatic Hypotension ISO RGD:1603662 D RGD:7240710 20230505 OMIM 12361004 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:9007501 Multiple System Atrophy (MSA) with Orthostatic Hypotension ISO RGD:1603662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple system atrophy (MSA) with orthostatic hypotension PMID:17420317|PMID:23758206|PMID:24988567|PMID:25548529|PMID:25594503|PMID:25741868|PMID:27493029|PMID:28492532|PMID:30613928 12361004 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:9007692 Insulin Resistance ISO RGD:1306722 D RGD:9068941 20200609 RGD associated with obesity PMID:26296322|REF_RGD_ID:10755343 12361004 COQ2 coenzyme Q2, polyprenyltransferase gene DOID:936 brain disease ISO RGD:1603662 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:733521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:0050771 pheochromocytoma ISO RGD:733521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:16199547|PMID:22974104|PMID:24781757|PMID:25741868|PMID:26556299|PMID:28492532|PMID:29177515|PMID:30877234 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:0050773 paraganglioma ISO RGD:733521 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paragangliomata PMID:11423010|PMID:17298551|PMID:17376234|PMID:20484225|PMID:21858060|PMID:22904323|PMID:23666964|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28384794|PMID:28492532|PMID:28546994|PMID:28724664|PMID:28873162|PMID:30201732|PMID:30680959|PMID:31527833 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:0050773 paraganglioma ISO RGD:733521 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:11423010|PMID:17298551|PMID:17376234|PMID:20484225|PMID:21858060|PMID:22904323|PMID:22974104|PMID:23666964|PMID:24033266|PMID:24781757|PMID:25363768|PMID:25741868|PMID:26467025|PMID:28384794|PMID:28492532|PMID:28546994|PMID:28714951|PMID:28724664|PMID:30201732|PMID:30680959|PMID:31527833|PMID:32462735|PMID:34014604|PMID:35059314 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:0060537 mitochondrial complex II deficiency ISO RGD:733521 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial complex II deficiency | ClinVar Annotator: match by term: Succinate CoQ reductase deficiency PMID:11423010|PMID:15989954|PMID:17298551|PMID:17376234|PMID:20484225|PMID:21858060|PMID:22904323|PMID:22974104|PMID:23109135|PMID:23666964|PMID:24033266|PMID:24781757|PMID:25363768|PMID:25741868|PMID:26198225|PMID:26467025|PMID:28384794|PMID:28492532|PMID:28546994|PMID:28714951|PMID:28724664|PMID:30201732|PMID:30680959|PMID:31527833|PMID:32462735|PMID:34014604|PMID:35059314 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:0080000 muscular disease ISO RGD:733521 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Skeletal muscle disease PMID:28384794|PMID:28492532 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:0080647 B-lymphoblastic leukemia/lymphoma with hypodiploidy ISO RGD:733521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B-lymphoblastic leukemia/lymphoma with hypodiploidy PMID:25741868|PMID:28492532 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:0110435 dilated cardiomyopathy 1GG ISO RGD:733521 D RGD:7240710 20180418 OMIM 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:0110435 dilated cardiomyopathy 1GG ISO RGD:733521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1GG PMID:10976639|PMID:12794685|PMID:15989954|PMID:16798039|PMID:20551992|PMID:22904323|PMID:24033266|PMID:25741868|PMID:26198225|PMID:26467025|PMID:26700204|PMID:27683074|PMID:28492532|PMID:28724664|PMID:29177515 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:10283 prostate cancer ISO RGD:733521 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:25741868|PMID:28492532 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:12930 dilated cardiomyopathy ISO RGD:733521 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:14330 Parkinson's disease ISO RGD:733521 D RGD:9068941 20200609 RGD protein:decreased expression:substantia nigra, neuron PMID:26605748|REF_RGD_ID:13504667 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:3247 rhabdomyosarcoma ISO RGD:733521 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10746566|PMID:15989954|PMID:20484225|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26490314|PMID:26689913|PMID:26722403|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:3652 Leigh disease ISO RGD:733521 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:11423010|PMID:1492653|PMID:16195397|PMID:16798039|PMID:17298551|PMID:17376234|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24448499|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27493882|PMID:27895137|PMID:28166811|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28819017|PMID:28873162|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30680959|PMID:30728243|PMID:30877234|PMID:31368675|PMID:31527833|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33674644|PMID:33960148|PMID:7550341 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:3652 Leigh disease ISO RGD:733521 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:11423010|PMID:1492653|PMID:16195397|PMID:16798039|PMID:17298551|PMID:17376234|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24448499|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27493882|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28819017|PMID:28873162|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30680959|PMID:30728243|PMID:30877234|PMID:31368675|PMID:31527833|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33674644|PMID:33960148|PMID:7550341 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:3652 Leigh disease ISO RGD:733521 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:11423010|PMID:1492653|PMID:16195397|PMID:16798039|PMID:17298551|PMID:17376234|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24448499|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27493882|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28819017|PMID:28873162|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30680959|PMID:30728243|PMID:30877234|PMID:31368675|PMID:31527833|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33606809|PMID:33674644|PMID:33960148|PMID:7550341 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:3652 Leigh disease ISO RGD:733521 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease PMID:11423010|PMID:1492653|PMID:16195397|PMID:16798039|PMID:17298551|PMID:17376234|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24448499|PMID:24781757|PMID:25363768|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27493882|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28714951|PMID:28724664|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30680959|PMID:30728243|PMID:30877234|PMID:31368675|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31827275|PMID:32462735|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33606809|PMID:33674644|PMID:33960148|PMID:35059314|PMID:7550341 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:3652 Leigh disease ISO RGD:733521 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:11423010|PMID:1492653|PMID:16195397|PMID:16798039|PMID:17298551|PMID:17376234|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24448499|PMID:24781757|PMID:25363768|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26689913|PMID:27011036|PMID:27493882|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28714951|PMID:28724664|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30276801|PMID:30680959|PMID:30728243|PMID:30877234|PMID:31368675|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31827275|PMID:32462735|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33606809|PMID:33674644|PMID:33960148|PMID:34014604|PMID:35059314|PMID:7550341 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:3652 Leigh disease ISO RGD:733521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:11423010|PMID:1492653|PMID:16195397|PMID:16798039|PMID:17298551|PMID:17376234|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24448499|PMID:24781757|PMID:25363768|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26689913|PMID:27011036|PMID:27493882|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28714951|PMID:28724664|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30276801|PMID:30680959|PMID:30728243|PMID:30877234|PMID:31368675|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31666924|PMID:31827275|PMID:32462735|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33606809|PMID:33674644|PMID:33960148|PMID:34014604|PMID:35059314|PMID:7550341 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:733521 D RGD:9068941 20210820 RGD DNA:SNP: 3'utr (rs13173911) (human) PMID:25576295|REF_RGD_ID:150340558 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:423 myopathy ISO RGD:733521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal myopathy PMID:28384794|PMID:28492532 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:4455 hereditary renal cell carcinoma ISO RGD:733521 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary renal cell carcinoma PMID:25741868|PMID:26467025|PMID:28492532|PMID:28546994|PMID:30680959|PMID:31527833 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:4851 pilocytic astrocytoma ISO RGD:733521 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Pilocytic astrocytoma PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:630 genetic disease ISO RGD:733521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10976639|PMID:15989954|PMID:22904323|PMID:23612575|PMID:25741868|PMID:26198225|PMID:26700204|PMID:27683074|PMID:28492532|PMID:28724664|PMID:29177515|PMID:33397040 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:8398 osteoarthritis ISO RGD:733521 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:733521 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:11423010|PMID:17298551|PMID:17376234|PMID:20484225|PMID:21858060|PMID:22904323|PMID:23666964|PMID:24033266|PMID:25363768|PMID:25741868|PMID:26467025|PMID:28384794|PMID:28492532|PMID:28546994|PMID:28714951|PMID:28724664|PMID:30201732|PMID:30680959|PMID:31527833|PMID:32462735|PMID:34014604|PMID:35059314 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:9001087 Opsoclonus-Myoclonus Syndrome ISO RGD:733521 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome PMID:22955521|PMID:22974104|PMID:24781757|PMID:25720320|PMID:25741868|PMID:28492532|PMID:29177515|PMID:29978154|PMID:30854332|PMID:30877234|PMID:31589614|PMID:31981491|PMID:32581362|PMID:33854214 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:9002091 Paragangliomas 5 ISO RGD:733521 D RGD:7240710 20180130 OMIM 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:9002091 Paragangliomas 5 ISO RGD:733521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paragangliomas 5 PMID:10746566|PMID:11423010|PMID:15989954|PMID:17298551|PMID:17376234|PMID:19628817|PMID:20484225|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23043141|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23750034|PMID:24033266|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25363768|PMID:25405498|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26467025|PMID:26490314|PMID:26689913|PMID:26722403|PMID:27011036|PMID:27390349|PMID:27493882|PMID:27847310|PMID:27895137|PMID:27986441|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28714951|PMID:28724664|PMID:28750076|PMID:28819017|PMID:28873162|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30455982|PMID:30680959|PMID:30854332|PMID:30877234|PMID:31368675|PMID:31413764|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31665838|PMID:31794323|PMID:31827275|PMID:31981491|PMID:32255556|PMID:32461654|PMID:32570879|PMID:32581362|PMID:32621582|PMID:32971818|PMID:33077847|PMID:33372952|PMID:33606809|PMID:33674644|PMID:33854214|PMID:33960148|PMID:34014604|PMID:34711244|PMID:35014173|PMID:35059314 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:9003055 Mitochondrial Complex II Deficiency Nuclear Type 1 ISO RGD:733521 D RGD:7240710 20210203 OMIM 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:9003055 Mitochondrial Complex II Deficiency Nuclear Type 1 ISO RGD:733521 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 PMID:10721988|PMID:10746566|PMID:10976639|PMID:11423010|PMID:12525685|PMID:12794685|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16361598|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:17889661|PMID:18156177|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:20551992|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22517557|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23633203|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26642834|PMID:26689913|PMID:26700204|PMID:26722403|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27391121|PMID:27493882|PMID:27535533|PMID:27683074|PMID:27847310|PMID:27895137|PMID:27986441|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28615448|PMID:28714951|PMID:28724664|PMID:28748451|PMID:28750076|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29483670|PMID:29527294|PMID:29625052|PMID:29695869|PMID:29778030|PMID:29804836|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30455982|PMID:30541135|PMID:30549360|PMID:30680959|PMID:30728243|PMID:30854332|PMID:30877234|PMID:31069529|PMID:31212687|PMID:31368675|PMID:31413764|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31665838|PMID:31666924|PMID:31794323|PMID:31827275|PMID:31981491|PMID:32255556|PMID:32461654|PMID:32462735|PMID:32570879|PMID:32581362|PMID:32621582|PMID:32688340|PMID:32741965|PMID:32887801|PMID:32971818|PMID:33077847|PMID:33219105|PMID:33362715|PMID:33372952|PMID:33397040|PMID:33397043|PMID:33500567|PMID:33606809|PMID:33674644|PMID:33715142|PMID:33854214|PMID:33960148|PMID:34014604|PMID:34711244|PMID:35014173|PMID:35059314|PMID:36315513|PMID:7550341|PMID:8967754|PMID:9536098 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:733521 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:733521 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:11423010|PMID:17298551|PMID:17376234|PMID:20484225|PMID:21858060|PMID:22904323|PMID:22974104|PMID:23666964|PMID:24033266|PMID:24781757|PMID:25363768|PMID:25741868|PMID:26467025|PMID:28384794|PMID:28492532|PMID:28546994|PMID:28714951|PMID:28724664|PMID:30201732|PMID:30680959|PMID:31527833|PMID:32462735|PMID:34014604|PMID:35059314 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:9006014 Peritoneal Adhesions ISO RGD:621557 D RGD:9068941 20200609 RGD mRNA:increased expression:peritoneum PMID:22569713|REF_RGD_ID:13825244 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10746566|PMID:11423010|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26722403|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27493882|PMID:27535533|PMID:27847310|PMID:27895137|PMID:27986441|PMID:28166811|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28724664|PMID:28748451|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29527294|PMID:29872718|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30549360|PMID:30680959|PMID:30728243|PMID:30854332|PMID:30877234|PMID:31413764|PMID:31527833|PMID:32971818|PMID:7550341|PMID:9536098 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733521 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10746566|PMID:11423010|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26689913|PMID:26700204|PMID:26722403|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27493882|PMID:27535533|PMID:27847310|PMID:27854218|PMID:27895137|PMID:27986441|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28724664|PMID:28748451|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29527294|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30455982|PMID:30549360|PMID:30680959|PMID:30728243|PMID:30854332|PMID:30877234|PMID:31368675|PMID:31413764|PMID:31527833|PMID:31589614|PMID:31827275|PMID:31981491|PMID:32581362|PMID:32741965|PMID:32971818|PMID:33077847|PMID:33372952|PMID:33397043|PMID:33606809|PMID:33674644|PMID:33960148|PMID:34711244|PMID:7550341|PMID:9536098 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733521 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10721988|PMID:10746566|PMID:10976639|PMID:11423010|PMID:12525685|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16361598|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:17889661|PMID:18156177|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26689913|PMID:26700204|PMID:26722403|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27391121|PMID:27493882|PMID:27535533|PMID:27683074|PMID:27847310|PMID:27895137|PMID:27986441|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28615448|PMID:28714951|PMID:28724664|PMID:28748451|PMID:28750076|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29483670|PMID:29527294|PMID:29625052|PMID:29695869|PMID:29804836|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30455982|PMID:30541135|PMID:30549360|PMID:30680959|PMID:30728243|PMID:30854332|PMID:30877234|PMID:31069529|PMID:31212687|PMID:31368675|PMID:31413764|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31827275|PMID:31981491|PMID:32255556|PMID:32326906|PMID:32462735|PMID:32570879|PMID:32581362|PMID:32688340|PMID:32741965|PMID:32887801|PMID:32971818|PMID:33077847|PMID:33362715|PMID:33372952|PMID:33397043|PMID:33606809|PMID:33674644|PMID:33854214|PMID:33960148|PMID:34711244|PMID:35059314|PMID:7550341|PMID:8967754|PMID:9536098 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733521 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10721988|PMID:10746566|PMID:10976639|PMID:11423010|PMID:12525685|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16361598|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:17889661|PMID:18156177|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26642834|PMID:26689913|PMID:26700204|PMID:26722403|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27391121|PMID:27493882|PMID:27535533|PMID:27683074|PMID:27847310|PMID:27895137|PMID:27986441|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28615448|PMID:28714951|PMID:28724664|PMID:28748451|PMID:28750076|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29483670|PMID:29527294|PMID:29625052|PMID:29695869|PMID:29778030|PMID:29804836|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30455982|PMID:30541135|PMID:30549360|PMID:30680959|PMID:30728243|PMID:30854332|PMID:30877234|PMID:31069529|PMID:31212687|PMID:31368675|PMID:31413764|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31665838|PMID:31666924|PMID:31794323|PMID:31827275|PMID:31981491|PMID:32255556|PMID:32326906|PMID:32461654|PMID:32462735|PMID:32570879|PMID:32581362|PMID:32688340|PMID:32741965|PMID:32887801|PMID:32971818|PMID:33077847|PMID:33219105|PMID:33362715|PMID:33372952|PMID:33397043|PMID:33606809|PMID:33674644|PMID:33715142|PMID:33854214|PMID:33960148|PMID:34014604|PMID:34711244|PMID:35014173|PMID:35059314|PMID:36315513|PMID:7550341|PMID:8967754|PMID:9536098 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:9007098 Pulmonary Atresia ISO RGD:733521 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:9007167 Carney Triad ISO RGD:733521 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Carney triad PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:9007959 Neurodegeneration with Ataxia and Late-Onset Optic Atrophy ISO RGD:733521 D RGD:7240710 20210414 OMIM 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:9007959 Neurodegeneration with Ataxia and Late-Onset Optic Atrophy ISO RGD:733521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration with ataxia and late-onset optic atrophy PMID:10976639|PMID:16199547|PMID:21752896|PMID:22974104|PMID:23666964|PMID:24033266|PMID:24781757|PMID:25394176|PMID:25720320|PMID:25741868|PMID:26198225|PMID:26467025|PMID:27011036|PMID:27683074|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:29177515|PMID:30050099|PMID:30877234|PMID:33397043|PMID:8967754 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733521 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:10976639|PMID:16361598|PMID:16371358|PMID:16935256|PMID:17576681|PMID:19628817|PMID:20484225|PMID:21505157|PMID:21752896|PMID:22577165|PMID:22955521|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25405498|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27390349|PMID:27683074|PMID:27847310|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30201732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33674644|PMID:33960148|PMID:8967754|PMID:9536098 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733521 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:10976639|PMID:16361598|PMID:16371358|PMID:16935256|PMID:17576681|PMID:19628817|PMID:20484225|PMID:21505157|PMID:21752896|PMID:22577165|PMID:22955521|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25405498|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27390349|PMID:27683074|PMID:27847310|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30201732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:8967754|PMID:9536098 12361015 SDHA succinate dehydrogenase complex flavoprotein subunit A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:10976639|PMID:16199547|PMID:16361598|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17576681|PMID:19628817|PMID:20484225|PMID:21505157|PMID:21752896|PMID:22577165|PMID:22955521|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25405498|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27390349|PMID:27683074|PMID:27847310|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30201732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33397040|PMID:33674644|PMID:33960148|PMID:35059314|PMID:8967754|PMID:9536098 12361038 MCCC1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency ISO RGD:1321620 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency PMID:10485305|PMID:11170888|PMID:11181649|PMID:11406611|PMID:14680978|PMID:15359379|PMID:15868465|PMID:16010683|PMID:16199547|PMID:16835865|PMID:17576681|PMID:22264772|PMID:22642865|PMID:24033266|PMID:25356967|PMID:25382614|PMID:25741868|PMID:26566957|PMID:27601257|PMID:28492532|PMID:29111448|PMID:30626930|PMID:31730530|PMID:31901042|PMID:32746448|PMID:9536098 12361038 MCCC1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1321620 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12361038 MCCC1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1321620 D RGD:7240710 20180130 OMIM 12361038 MCCC1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1321620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 | ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 1 deficiency PMID:10485305|PMID:11170888|PMID:11181649|PMID:11406611|PMID:14680978|PMID:15359379|PMID:15868465|PMID:16010683|PMID:16199547|PMID:16835865|PMID:17576681|PMID:17968484|PMID:19339287|PMID:21071250|PMID:22264772|PMID:22642865|PMID:24033266|PMID:24078573|PMID:25190158|PMID:25356967|PMID:25382614|PMID:25640679|PMID:25741868|PMID:26566957|PMID:27577216|PMID:27601257|PMID:28492532|PMID:29111448|PMID:30626930|PMID:30887117|PMID:31730530|PMID:31901042|PMID:32746448|PMID:9187484|PMID:9536098 12361038 MCCC1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures ISO RGD:1321620 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures PMID:11181649|PMID:15359379|PMID:16199547|PMID:22642865|PMID:25741868|PMID:28492532 12361038 MCCC1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:0111546 Currarino syndrome ISO RGD:1321620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12361038 MCCC1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:630 genetic disease ISO RGD:1321620 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10485305|PMID:11170888|PMID:11181649|PMID:14680978|PMID:15359379|PMID:15868465|PMID:16010683|PMID:16835865|PMID:17576681|PMID:22264772|PMID:22642865|PMID:25356967|PMID:25741868|PMID:28492532|PMID:29111448|PMID:30626930|PMID:9536098 12361038 MCCC1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12361061 MTMR10 myotubularin related protein 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1606536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:19050728|PMID:19289393|PMID:21844811|PMID:23044707|PMID:25255310|PMID:25741868|PMID:27569545 12361061 MTMR10 myotubularin related protein 10 gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:1606536 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome PMID:31690835 12361061 MTMR10 myotubularin related protein 10 gene DOID:0060911 karyomegalic interstitial nephritis ISO RGD:1606536 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Karyomegalic interstitial nephritis PMID:16678356|PMID:17304531|PMID:20621605|PMID:22772369|PMID:25741868|PMID:27196444|PMID:28492532|PMID:30773290|PMID:32111193|PMID:32220227|PMID:7847351 12361061 MTMR10 myotubularin related protein 10 gene DOID:12849 autistic disorder ISO RGD:1606536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12361061 MTMR10 myotubularin related protein 10 gene DOID:5419 schizophrenia ISO RGD:1606536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12361061 MTMR10 myotubularin related protein 10 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 PMID:25741868 12361061 MTMR10 myotubularin related protein 10 gene DOID:630 genetic disease ISO RGD:1606536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12361061 MTMR10 myotubularin related protein 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12361061 MTMR10 myotubularin related protein 10 gene DOID:9256 colorectal cancer ISO RGD:1606536 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 12361085 C4H1orf131 chromosome 4 C1orf131 homolog gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1605298 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 12361085 C4H1orf131 chromosome 4 C1orf131 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1605298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12361085 C4H1orf131 chromosome 4 C1orf131 homolog gene DOID:630 genetic disease ISO RGD:1605298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361085 C4H1orf131 chromosome 4 C1orf131 homolog gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1605298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 12361085 C4H1orf131 chromosome 4 C1orf131 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12361096 POLR3A RNA polymerase III subunit A gene DOID:0060789 hypomyelinating leukodystrophy 4 ISO RGD:1351863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4 PMID:29389947 12361096 POLR3A RNA polymerase III subunit A gene DOID:0060794 hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:1351863 D RGD:7240710 20180130 OMIM 12361096 POLR3A RNA polymerase III subunit A gene DOID:0060794 hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:1351863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 4h syndrome | ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy PMID:12605447|PMID:16199547|PMID:17159124|PMID:17576681|PMID:20640464|PMID:21855841|PMID:22036171|PMID:22451160|PMID:22819058|PMID:22855961|PMID:23355746|PMID:23694757|PMID:23965854|PMID:25339210|PMID:25741868|PMID:26096995|PMID:26752647|PMID:27029625|PMID:27506977|PMID:27521716|PMID:27535217|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29618326|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30847471|PMID:31438894|PMID:31637490|PMID:31932101|PMID:31940116|PMID:32214227|PMID:32373668|PMID:32582862|PMID:32597037|PMID:32860008|PMID:33134517|PMID:33491183|PMID:33644862|PMID:34284285|PMID:34589056|PMID:614258|PMID:9536098 12361096 POLR3A RNA polymerase III subunit A gene DOID:0060797 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:1351863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome PMID:21855841|PMID:22855961|PMID:25741868|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33491183 12361096 POLR3A RNA polymerase III subunit A gene DOID:0081333 Wiedemann-Rautenstrauch syndrome ISO RGD:1351863 D RGD:7240710 20190612 OMIM 12361096 POLR3A RNA polymerase III subunit A gene DOID:0081333 Wiedemann-Rautenstrauch syndrome ISO RGD:1351863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal pseudo-hydrocephalic progeroid syndrome | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch syndrome | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome PMID:12605447|PMID:16007586|PMID:16199547|PMID:19938095|PMID:21855841|PMID:22036171|PMID:22451160|PMID:22855961|PMID:23355746|PMID:23965854|PMID:25339210|PMID:25741868|PMID:25898808|PMID:27029625|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30847471|PMID:31637490|PMID:31940116|PMID:32214227|PMID:32373668|PMID:32582862|PMID:32597037|PMID:32860008|PMID:33491183|PMID:614258 12361096 POLR3A RNA polymerase III subunit A gene DOID:0111887 Diamond-Blackfan anemia 3 ISO RGD:1351863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 PMID:25741868 12361096 POLR3A RNA polymerase III subunit A gene DOID:10579 leukodystrophy ISO RGD:1351863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:16199547|PMID:21855841|PMID:22855961|PMID:25339210|PMID:25741868|PMID:27612211|PMID:28459997|PMID:28492532|PMID:30414627|PMID:30450527|PMID:30847471 12361096 POLR3A RNA polymerase III subunit A gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1351863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:22855961|PMID:25741868|PMID:27029625 12361096 POLR3A RNA polymerase III subunit A gene DOID:630 genetic disease ISO RGD:1351863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:21855841|PMID:22855961|PMID:25133958|PMID:25339210|PMID:25741868|PMID:26752647|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33491183|PMID:9536098 12361096 POLR3A RNA polymerase III subunit A gene DOID:9005213 Dysmyelinating Leukodystrophy with Oligodontia ISO RGD:1351863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dentoleukoencephalopathy PMID:21855841|PMID:22855961|PMID:25339210|PMID:25741868|PMID:27029625|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32582862|PMID:32597037|PMID:33491183|PMID:34589056|PMID:614258 12361096 POLR3A RNA polymerase III subunit A gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1351863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 12361138 EVL Enah/Vasp-like gene DOID:630 genetic disease ISO RGD:1605079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361138 EVL Enah/Vasp-like gene DOID:9008443 Colorectal Neoplasms ISO RGD:1605079 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 12361138 EVL Enah/Vasp-like gene DOID:9008939 Breast Neoplasms ISO RGD:1605079 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 12361160 CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1354258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Situs ambiguus 12361160 CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1354258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:25741868 12361160 CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:0050580 hereditary lymphedema ISO RGD:1354258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary lymphedema PMID:25741868|PMID:31215153 12361160 CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1354258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12361160 CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:1059 intellectual disability ISO RGD:1354258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12361160 CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:2843 long QT syndrome ISO RGD:1354258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12361160 CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:630 genetic disease ISO RGD:1354258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361160 CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:758 situs inversus ISO RGD:1354258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 12361160 CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:9009156 Lymphatic Malformation 9 ISO RGD:1354258 D RGD:7240710 20210526 OMIM 12361160 CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:9009156 Lymphatic Malformation 9 ISO RGD:1354258 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 9 PMID:25741868|PMID:26855770|PMID:28492532|PMID:31215153|PMID:31403174 12361202 KLF10 KLF transcription factor 10 gene DOID:0111590 Cohen syndrome ISO RGD:1348365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12361202 KLF10 KLF transcription factor 10 gene DOID:630 genetic disease ISO RGD:1348365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12361210 ACTN4 actinin alpha 4 gene DOID:0070044 Coffin-Siris syndrome 2 ISO RGD:735302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 PMID:16251236|PMID:18594871|PMID:19956976|PMID:21680739|PMID:22732337|PMID:25741868|PMID:26248470|PMID:26346198|PMID:26467025|PMID:27535533|PMID:28492532 12361210 ACTN4 actinin alpha 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:735302 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12361210 ACTN4 actinin alpha 4 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:735302 D RGD:7240710 20180221 OMIM 12361210 ACTN4 actinin alpha 4 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:735302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 PMID:10700177|PMID:16251236|PMID:18594871|PMID:19142020|PMID:19956976|PMID:21680739|PMID:22351778|PMID:22732337|PMID:23890478|PMID:24130771|PMID:25741868|PMID:26248470|PMID:26301083|PMID:26346198|PMID:26467025|PMID:26740551|PMID:27535533|PMID:28492532|PMID:29869118|PMID:30406062 12361210 ACTN4 actinin alpha 4 gene DOID:1184 nephrotic syndrome ISO RGD:735302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:28492532 12361210 ACTN4 actinin alpha 4 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:735302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:16251236|PMID:18594871|PMID:19142020|PMID:19956976|PMID:21680739|PMID:22732337|PMID:23890478|PMID:24130771|PMID:25741868|PMID:26248470|PMID:26346198|PMID:26467025|PMID:27535533|PMID:28492532|PMID:29869118 12361210 ACTN4 actinin alpha 4 gene DOID:1312 focal segmental glomerulosclerosis susceptibility ISO RGD:735302 D RGD:9068941 20200609 RGD PMID:10700177|REF_RGD_ID:1598731 12361210 ACTN4 actinin alpha 4 gene DOID:305 carcinoma ISO RGD:735302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12361210 ACTN4 actinin alpha 4 gene DOID:557 kidney disease ISO RGD:735302 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:19142020|PMID:25741868|PMID:26467025|PMID:28492532 12361210 ACTN4 actinin alpha 4 gene DOID:630 genetic disease ISO RGD:735302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12361210 ACTN4 actinin alpha 4 gene DOID:784 chronic kidney disease ISO RGD:735302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 12361210 ACTN4 actinin alpha 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12361210 ACTN4 actinin alpha 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12361210 ACTN4 actinin alpha 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12361210 ACTN4 actinin alpha 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735302 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12361244 GADL1 glutamate decarboxylase like 1 gene DOID:13938 amenorrhea ISO RGD:1351528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12361244 GADL1 glutamate decarboxylase like 1 gene DOID:630 genetic disease ISO RGD:1351528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361244 GADL1 glutamate decarboxylase like 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1351528 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12361271 ECE1 endothelin converting enzyme 1 gene DOID:0050855 renal fibrosis ISO RGD:620293 D RGD:9068941 20200609 RGD associated with Ureteral obstruction;mRNA:increased expression:kidney PMID:11078391|REF_RGD_ID:7244179 12361271 ECE1 endothelin converting enzyme 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:731823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12361271 ECE1 endothelin converting enzyme 1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:731823 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12361271 ECE1 endothelin converting enzyme 1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:731823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12361271 ECE1 endothelin converting enzyme 1 gene DOID:10487 Hirschsprung's disease ISO RGD:731823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 12361271 ECE1 endothelin converting enzyme 1 gene DOID:10652 Alzheimer's disease ISO RGD:731823 D RGD:9068941 20200609 RGD PMID:15340356|REF_RGD_ID:1580902 12361271 ECE1 endothelin converting enzyme 1 gene DOID:10763 hypertension ISO RGD:620293 D RGD:9068941 20200609 RGD PMID:12193123|REF_RGD_ID:1580907 12361271 ECE1 endothelin converting enzyme 1 gene DOID:10763 hypertension ISO RGD:620293 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased activity:kidney medulla PMID:10894793|REF_RGD_ID:7244182 12361271 ECE1 endothelin converting enzyme 1 gene DOID:10763 hypertension ISO RGD:731823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12566389 12361271 ECE1 endothelin converting enzyme 1 gene DOID:10763 hypertension ISO RGD:731823 D RGD:9068941 20200609 RGD PMID:15126915|REF_RGD_ID:1580904 12361271 ECE1 endothelin converting enzyme 1 gene DOID:10825 essential hypertension ISO RGD:731823 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 12361271 ECE1 endothelin converting enzyme 1 gene DOID:10825 essential hypertension susceptibility ISO RGD:731823 D RGD:7240710 20230510 OMIM 12361271 ECE1 endothelin converting enzyme 1 gene DOID:11465 autonomic nervous system disease ISO RGD:731823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9915973 12361271 ECE1 endothelin converting enzyme 1 gene DOID:1184 nephrotic syndrome ISO RGD:620293 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:12972712|REF_RGD_ID:7244242 12361271 ECE1 endothelin converting enzyme 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:731823 D RGD:9068941 20200609 RGD PMID:11145756|REF_RGD_ID:1580911 12361271 ECE1 endothelin converting enzyme 1 gene DOID:1682 congenital heart disease ISO RGD:731823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9449665|PMID:9915973 12361271 ECE1 endothelin converting enzyme 1 gene DOID:3021 acute kidney failure ISO RGD:620293 D RGD:9068941 20200609 RGD PMID:10073607|PMID:11043448|REF_RGD_ID:7244180|REF_RGD_ID:7244185 12361271 ECE1 endothelin converting enzyme 1 gene DOID:3393 coronary artery disease ISO RGD:731823 D RGD:9068941 20200609 RGD PMID:10973835|REF_RGD_ID:1580909 12361271 ECE1 endothelin converting enzyme 1 gene DOID:3393 coronary artery disease ISO RGD:731823 D RGD:9068941 20200609 RGD protein:increased expression:smooth muscle cell,macrophage PMID:8994440|REF_RGD_ID:7244168 12361271 ECE1 endothelin converting enzyme 1 gene DOID:3454 brain infarction ISO RGD:1552140 D RGD:9068941 20200609 RGD PMID:15485550|REF_RGD_ID:1580908 12361271 ECE1 endothelin converting enzyme 1 gene DOID:5844 myocardial infarction ISO RGD:731823 D RGD:9068941 20200609 RGD PMID:9607404|REF_RGD_ID:1580912 12361271 ECE1 endothelin converting enzyme 1 gene DOID:6000 congestive heart failure ISO RGD:620293 D RGD:9068941 20200609 RGD associated with myocardial ischemia PMID:19596829|REF_RGD_ID:7243876 12361271 ECE1 endothelin converting enzyme 1 gene DOID:6000 congestive heart failure ISO RGD:620293 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:9595392|REF_RGD_ID:7244244 12361271 ECE1 endothelin converting enzyme 1 gene DOID:6000 congestive heart failure ISO RGD:731823 D RGD:9068941 20200609 RGD PMID:11145756|REF_RGD_ID:1580911 12361271 ECE1 endothelin converting enzyme 1 gene DOID:630 genetic disease ISO RGD:731823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361271 ECE1 endothelin converting enzyme 1 gene DOID:6406 double outlet right ventricle ISO RGD:1552140 D RGD:9068941 20220825 MouseDO OMIM:217095 12361271 ECE1 endothelin converting enzyme 1 gene DOID:6432 pulmonary hypertension ISO RGD:620293 D RGD:9068941 20200609 RGD associated with Anoxia; PMID:18767389|REF_RGD_ID:7243939 12361271 ECE1 endothelin converting enzyme 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:620293 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:16170464|REF_RGD_ID:7243952 12361271 ECE1 endothelin converting enzyme 1 gene DOID:9001782 Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction ISO RGD:731823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, cardiac defects, and autonomic dysfunction PMID:25741868|PMID:34298581|PMID:8530372|PMID:9915973 12361271 ECE1 endothelin converting enzyme 1 gene DOID:9001782 Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction susceptibility ISO RGD:731823 D RGD:7240710 20230510 OMIM 12361271 ECE1 endothelin converting enzyme 1 gene DOID:9002514 Neointima ISO RGD:620293 D RGD:9068941 20200609 RGD mRNA:increased expression:carotid artery PMID:8575076|REF_RGD_ID:7244170 12361271 ECE1 endothelin converting enzyme 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1552140 D RGD:9068941 20200609 RGD PMID:9649553|REF_RGD_ID:734910 12361271 ECE1 endothelin converting enzyme 1 gene DOID:9004283 Transplant Rejection ISO RGD:620293 D RGD:9068941 20200609 RGD PMID:10401760|REF_RGD_ID:7244165 12361271 ECE1 endothelin converting enzyme 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:620293 D RGD:9068941 20200609 RGD associated with Hypertension, Renovascular and Diabetes Mellitus, Experimental;mRNA,protein:increased expression:heart left ventricle PMID:14627492|REF_RGD_ID:7244172 12361271 ECE1 endothelin converting enzyme 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620293 D RGD:9068941 20200609 RGD mRNA:increased expression:thoracic aorta PMID:23600389|REF_RGD_ID:7243858 12361271 ECE1 endothelin converting enzyme 1 gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:620293 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney medulla PMID:18385664|REF_RGD_ID:7243946 12361271 ECE1 endothelin converting enzyme 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:731823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12361271 ECE1 endothelin converting enzyme 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620293 D RGD:9068941 20200609 RGD PMID:12193087|PMID:18586023|REF_RGD_ID:4892580|REF_RGD_ID:7244160 12361271 ECE1 endothelin converting enzyme 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:731823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9449665 12361271 ECE1 endothelin converting enzyme 1 gene DOID:9279 hyperhomocysteinemia ISO RGD:620293 D RGD:9068941 20200609 RGD PMID:19371338|REF_RGD_ID:4892572 12361271 ECE1 endothelin converting enzyme 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16387788 12361293 PLA2G4E phospholipase A2 group IVE gene DOID:2717 Bloom syndrome ISO RGD:1606471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12361293 PLA2G4E phospholipase A2 group IVE gene DOID:630 genetic disease ISO RGD:1606471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361293 PLA2G4E phospholipase A2 group IVE gene DOID:9256 colorectal cancer ISO RGD:1606471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12361324 ALPK1 alpha kinase 1 gene DOID:11664 nephrosclerosis ISO RGD:1351787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27542954 12361324 ALPK1 alpha kinase 1 gene DOID:12271 aniridia ISO RGD:1351787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 12361324 ALPK1 alpha kinase 1 gene DOID:13189 gout ISO RGD:1351787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27542954 12361324 ALPK1 alpha kinase 1 gene DOID:630 genetic disease ISO RGD:1351787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12361324 ALPK1 alpha kinase 1 gene DOID:9001981 Weight Loss ISO RGD:1351787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27542954 12361324 ALPK1 alpha kinase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27542954 12361324 ALPK1 alpha kinase 1 gene DOID:9002766 Knobloch Syndrome Type I ISO RGD:1351787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Knobloch syndrome 1 PMID:25741868 12361324 ALPK1 alpha kinase 1 gene DOID:9005477 Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome ISO RGD:1351787 D RGD:7240710 20201111 OMIM 12361324 ALPK1 alpha kinase 1 gene DOID:9005477 Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome ISO RGD:1351787 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RETINAL DYSTROPHY, OPTIC NERVE EDEMA, SPLENOMEGALY, ANHIDROSIS, AND MIGRAINE HEADACHE SYNDROME | ClinVar Annotator: match by term: ROSAH syndrome PMID:25741868|PMID:28492532|PMID:30967659|PMID:31053777|PMID:31939038|PMID:35868845 12361324 ALPK1 alpha kinase 1 gene DOID:9351 diabetes mellitus ISO RGD:1351787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27542954 12361361 SLC29A4 solute carrier family 29 member 4 gene DOID:11372 megacolon ISO RGD:1321510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12361361 SLC29A4 solute carrier family 29 member 4 gene DOID:630 genetic disease ISO RGD:1321510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361376 KRT27 keratin 27 gene DOID:630 genetic disease ISO RGD:1345701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361388 TRIM25 tripartite motif containing 25 gene DOID:0050777 Joubert syndrome ISO RGD:1343933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12361388 TRIM25 tripartite motif containing 25 gene DOID:630 genetic disease ISO RGD:1343933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361408 GJC2 gap junction protein gamma 2 gene DOID:0050952 spastic ataxia ISO RGD:1346209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:22833003|PMID:25059390|PMID:25741868|PMID:28492532|PMID:33190326|PMID:34445196 12361408 GJC2 gap junction protein gamma 2 gene DOID:0060787 hypomyelinating leukodystrophy 2 ISO RGD:1346209 D RGD:7240710 20180130 OMIM 12361408 GJC2 gap junction protein gamma 2 gene DOID:0060787 hypomyelinating leukodystrophy 2 ISO RGD:1346209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 PMID:15192806|PMID:16969684|PMID:17031678|PMID:17344063|PMID:18094336|PMID:20695017|PMID:21246605|PMID:21959080|PMID:22351697|PMID:22669416|PMID:22833003|PMID:23142375|PMID:24374284|PMID:25059390|PMID:25326635|PMID:25741868|PMID:26354221|PMID:27057822|PMID:27780564|PMID:28492532|PMID:29276893|PMID:29389947|PMID:29906362|PMID:32488064|PMID:32581362|PMID:33190326|PMID:34445196|PMID:8733901 12361408 GJC2 gap junction protein gamma 2 gene DOID:0070208 hereditary lymphedema IC ISO RGD:1346209 D RGD:7240710 20180130 OMIM 12361408 GJC2 gap junction protein gamma 2 gene DOID:0070208 hereditary lymphedema IC ISO RGD:1346209 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Lymphedema, hereditary, IC PMID:20537300|PMID:21266381|PMID:25741868|PMID:28492532 12361408 GJC2 gap junction protein gamma 2 gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1346209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:28492532 12361408 GJC2 gap junction protein gamma 2 gene DOID:0110796 hereditary spastic paraplegia 44 ISO RGD:1346209 D RGD:7240710 20180130 OMIM 12361408 GJC2 gap junction protein gamma 2 gene DOID:0110796 hereditary spastic paraplegia 44 ISO RGD:1346209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 44 PMID:19056803|PMID:25741868|PMID:27057822|PMID:28492532 12361408 GJC2 gap junction protein gamma 2 gene DOID:1059 intellectual disability ISO RGD:1346209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:32581362 12361408 GJC2 gap junction protein gamma 2 gene DOID:14330 Parkinson's disease treatment ISO RGD:1562712 D RGD:9068941 20200609 RGD PMID:21561882|REF_RGD_ID:13208520 12361408 GJC2 gap junction protein gamma 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1346209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12361408 GJC2 gap junction protein gamma 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1346209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:22351697|PMID:22833003|PMID:25741868|PMID:26467025|PMID:27860360|PMID:28492532|PMID:29906362 12361408 GJC2 gap junction protein gamma 2 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1346209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:15192806|PMID:23143715|PMID:25741868|PMID:28492532|PMID:31319225 12361408 GJC2 gap junction protein gamma 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1623025 D RGD:9068941 20200609 RGD protein:decreased expression:lumbar spinal cord ventral horn, oligodendrocyte (mouse) PMID:24597481|REF_RGD_ID:13208591 12361408 GJC2 gap junction protein gamma 2 gene DOID:4977 lymphedema ISO RGD:1346209 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:20537300|REF_RGD_ID:13208590 12361408 GJC2 gap junction protein gamma 2 gene DOID:4977 lymphedema ISO RGD:1346209 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.S48L, p.M210R (human) PMID:21266381|REF_RGD_ID:13208589 12361408 GJC2 gap junction protein gamma 2 gene DOID:543 dystonia ISO RGD:1346209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868|PMID:32581362 12361408 GJC2 gap junction protein gamma 2 gene DOID:607 paraplegia ISO RGD:1346209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:15192806|PMID:17576681|PMID:18094336|PMID:20513814|PMID:20695017|PMID:21246605|PMID:21959080|PMID:22351697|PMID:22833003|PMID:23142375|PMID:23143715|PMID:24374284|PMID:25059390|PMID:25741868|PMID:26467025|PMID:27057822|PMID:27780564|PMID:27860360|PMID:28492532|PMID:29276893|PMID:29451896|PMID:29906362|PMID:31028937|PMID:31270756|PMID:31319225|PMID:31912665|PMID:33190326|PMID:34445196|PMID:8733901|PMID:9536098 12361408 GJC2 gap junction protein gamma 2 gene DOID:630 genetic disease ISO RGD:1346209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22351697|PMID:22833003|PMID:25741868|PMID:27860360|PMID:28492532|PMID:29906362 12361408 GJC2 gap junction protein gamma 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1562712 D RGD:9068941 20200609 RGD PMID:26415641|REF_RGD_ID:13208513 12361408 GJC2 gap junction protein gamma 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1623025 D RGD:9068941 20200609 RGD protein:decreased expression:white matter of spinal cord, gap junction (mouse) PMID:22461072|REF_RGD_ID:13208593 12361408 GJC2 gap junction protein gamma 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1346209 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:18094336|PMID:25741868 12361408 GJC2 gap junction protein gamma 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12361415 ETF1 eukaryotic translation termination factor 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1313906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12361415 ETF1 eukaryotic translation termination factor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313906 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12361415 ETF1 eukaryotic translation termination factor 1 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1313906 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12361415 ETF1 eukaryotic translation termination factor 1 gene DOID:630 genetic disease ISO RGD:1313906 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361415 ETF1 eukaryotic translation termination factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12361415 ETF1 eukaryotic translation termination factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313906 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12361442 SPACA3 sperm acrosome associated 3 gene DOID:630 genetic disease ISO RGD:1315441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361459 OGN osteoglycin gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1317793 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 12361459 OGN osteoglycin gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1317793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 12361459 OGN osteoglycin gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1317793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 12361459 OGN osteoglycin gene DOID:630 genetic disease ISO RGD:1317793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361459 OGN osteoglycin gene DOID:9000965 Neoplasm Metastasis ISO RGD:1317793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 12361470 SLC25A26 solute carrier family 25 member 26 gene DOID:0111470 combined oxidative phosphorylation deficiency 28 ISO RGD:1318797 D RGD:7240710 20190315 OMIM 12361470 SLC25A26 solute carrier family 25 member 26 gene DOID:0111470 combined oxidative phosphorylation deficiency 28 ISO RGD:1318797 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 28 PMID:25741868|PMID:26522469|PMID:28492532 12361470 SLC25A26 solute carrier family 25 member 26 gene DOID:3320 Tay-Sachs disease ISO RGD:1318797 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:25741868|PMID:26522469 12361470 SLC25A26 solute carrier family 25 member 26 gene DOID:630 genetic disease ISO RGD:1318797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26522469|PMID:28492532 12361470 SLC25A26 solute carrier family 25 member 26 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1318797 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:25741868 12361511 FRMPD4 FERM and PDZ domain containing 4 gene DOID:0070054 Vulto-van Silfout-de Vries syndrome ISO RGD:1353602 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED EXPRESSIVE SPEECH AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES PMID:25741868 12361511 FRMPD4 FERM and PDZ domain containing 4 gene DOID:0080297 Coffin-Siris syndrome 6 ISO RGD:1353602 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 6 PMID:25741868 12361511 FRMPD4 FERM and PDZ domain containing 4 gene DOID:0112018 non-syndromic X-linked intellectual disability 104 ISO RGD:1353602 D RGD:7240710 20190315 OMIM 12361511 FRMPD4 FERM and PDZ domain containing 4 gene DOID:0112018 non-syndromic X-linked intellectual disability 104 ISO RGD:1353602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 PMID:25644381|PMID:25741868|PMID:26394714|PMID:28492532|PMID:29267967 12361511 FRMPD4 FERM and PDZ domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1353602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12361511 FRMPD4 FERM and PDZ domain containing 4 gene DOID:12849 autistic disorder ISO RGD:1353602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 4 PMID:21681106|PMID:25741868|PMID:28492532|PMID:30208311 12361511 FRMPD4 FERM and PDZ domain containing 4 gene DOID:630 genetic disease ISO RGD:1353602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19118189|PMID:25741868|PMID:28492532 12361511 FRMPD4 FERM and PDZ domain containing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12361552 GTF2A1L general transcription factor IIA subunit 1 like gene DOID:0060812 syndromic X-linked intellectual disability Siderius type ISO RGD:1604956 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Siderius type PMID:25741868 12361552 GTF2A1L general transcription factor IIA subunit 1 like gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:1604956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 12361552 GTF2A1L general transcription factor IIA subunit 1 like gene DOID:0111545 familial male-limited precocious puberty ISO RGD:1604956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial male-limited precocious puberty | ClinVar Annotator: match by term: Gonadotropin-independent familial sexual precocity PMID:10084607|PMID:11134146|PMID:11391350|PMID:11849253|PMID:11867621|PMID:12679452|PMID:16123233|PMID:16684832|PMID:16887451|PMID:17030087|PMID:17055147|PMID:17055151|PMID:21490077|PMID:2244890|PMID:23686864|PMID:23861372|PMID:23982246|PMID:25741868|PMID:25741869|PMID:26040673|PMID:26467025|PMID:27532428|PMID:28339861|PMID:28492532|PMID:29654692|PMID:30283825|PMID:31967000|PMID:7527413|PMID:7556872|PMID:7562970|PMID:7692306|PMID:7714085|PMID:7757065|PMID:7892197|PMID:8855841|PMID:8929952|PMID:8943222|PMID:9039330|PMID:9467560|PMID:9661624|PMID:9703386|PMID:9851790 12361552 GTF2A1L general transcription factor IIA subunit 1 like gene DOID:0112259 Leydig cell hypoplasia ISO RGD:1604956 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPERGONADOTROPIC HYPOGONADISM, MALE, DUE TO LHCGR DEFECT | ClinVar Annotator: match by term: Leydig cell agenesis | ClinVar Annotator: match by term: Luteinizing hormone resistance, female PMID:11041448|PMID:11849253|PMID:12050206|PMID:12679452|PMID:15372531|PMID:15472221|PMID:16123233|PMID:21490077|PMID:2244890|PMID:23861372|PMID:25741868|PMID:25741869|PMID:26040673|PMID:26246498|PMID:26467025|PMID:27016457|PMID:27533885|PMID:28339861|PMID:28492532|PMID:30283825|PMID:31967000|PMID:7527413|PMID:7556872|PMID:7562970|PMID:7581384|PMID:7692306|PMID:7714085|PMID:7719343|PMID:7757065|PMID:7892197|PMID:8559204|PMID:8855841|PMID:8923827|PMID:8943222|PMID:9514160|PMID:9626144|PMID:9703386|PMID:9817592|PMID:9851790 12361552 GTF2A1L general transcription factor IIA subunit 1 like gene DOID:0112260 Leydig cell hypoplasia type I ISO RGD:1604956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leydig cell hypoplasia, type 1 | ClinVar Annotator: match by term: Leydig hypoplasia, type I PMID:11041448|PMID:12679452|PMID:21490077|PMID:2244890|PMID:23861372|PMID:25741868|PMID:26040673|PMID:26246498|PMID:26467025|PMID:27016457|PMID:27533885|PMID:28339861|PMID:28492532|PMID:30283825|PMID:31967000|PMID:7527413|PMID:7556872|PMID:7562970|PMID:7692306|PMID:7714085|PMID:7757065|PMID:7892197|PMID:8559204|PMID:8855841|PMID:8943222|PMID:9703386|PMID:9851790 12361552 GTF2A1L general transcription factor IIA subunit 1 like gene DOID:0112261 Leydig cell hypoplasia type II ISO RGD:1604956 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Leydig cell hypoplasia, type II PMID:10852464|PMID:9215288|PMID:9626653 12361552 GTF2A1L general transcription factor IIA subunit 1 like gene DOID:1924 hypogonadism ISO RGD:1604956 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hypergonadotropic hypogonadism PMID:12679452|PMID:2244890|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7556872|PMID:9851790 12361552 GTF2A1L general transcription factor IIA subunit 1 like gene DOID:2661 myoepithelioma ISO RGD:1604956 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12361552 GTF2A1L general transcription factor IIA subunit 1 like gene DOID:3765 pseudohermaphroditism ISO RGD:1604956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudohermaphroditism 12361552 GTF2A1L general transcription factor IIA subunit 1 like gene DOID:630 genetic disease ISO RGD:1604956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12361552 GTF2A1L general transcription factor IIA subunit 1 like gene DOID:9002826 Somatic Leydig Cell Adenoma, with Male-Limited Precocious Puberty ISO RGD:1604956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leydig cell adenoma, somatic, with male-limited precocious puberty PMID:10580072|PMID:11857565 12361552 GTF2A1L general transcription factor IIA subunit 1 like gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:1604956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 12361552 GTF2A1L general transcription factor IIA subunit 1 like gene DOID:9008502 Anorchia ISO RGD:1604956 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Testicular regression syndrome PMID:25741868 12361570 OVCH1 ovochymase 1 gene DOID:630 genetic disease ISO RGD:1343843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361600 TMEM88B transmembrane protein 88B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:2802463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12361600 TMEM88B transmembrane protein 88B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:2802463 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12361600 TMEM88B transmembrane protein 88B gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:2802463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12361600 TMEM88B transmembrane protein 88B gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:2802463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12361600 TMEM88B transmembrane protein 88B gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:2802463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12361600 TMEM88B transmembrane protein 88B gene DOID:0110994 Joubert syndrome 25 ISO RGD:2802463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12361600 TMEM88B transmembrane protein 88B gene DOID:0111934 immunodeficiency 38 ISO RGD:2802463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12361600 TMEM88B transmembrane protein 88B gene DOID:0111935 immunodeficiency 16 ISO RGD:2802463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12361600 TMEM88B transmembrane protein 88B gene DOID:1827 idiopathic generalized epilepsy ISO RGD:2802463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12361600 TMEM88B transmembrane protein 88B gene DOID:630 genetic disease ISO RGD:2802463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361600 TMEM88B transmembrane protein 88B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2802463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12361600 TMEM88B transmembrane protein 88B gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:2802463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12361600 TMEM88B transmembrane protein 88B gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:2802463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12361607 CRTC1 CREB regulated transcription coactivator 1 gene DOID:1470 major depressive disorder ISO RGD:1614777 D RGD:9068941 20220825 MouseDO OMIM:608520 | OMIM:608691 12361607 CRTC1 CREB regulated transcription coactivator 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1589158 D RGD:9068941 20200609 RGD PMID:20417695|REF_RGD_ID:4891138 12361607 CRTC1 CREB regulated transcription coactivator 1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1320323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121790 12361607 CRTC1 CREB regulated transcription coactivator 1 gene DOID:630 genetic disease ISO RGD:1320323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361607 CRTC1 CREB regulated transcription coactivator 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1320323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12361632 OR6C75C olfactory receptor family 6 subfamily C member 75C gene DOID:630 genetic disease ISO RGD:1353505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361640 LOC102153069 cancer/testis antigen family 45 member A8-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12361640 LOC102153069 cancer/testis antigen family 45 member A8-like gene DOID:12849 autistic disorder ISO RGD:1352077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12361640 LOC102153069 cancer/testis antigen family 45 member A8-like gene DOID:630 genetic disease ISO RGD:1352077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361696 ID4 inhibitor of DNA binding 4, HLH protein gene DOID:11476 osteoporosis ISO RGD:1550640 D RGD:9068941 20220825 MouseDO OMIM:166710 12361696 ID4 inhibitor of DNA binding 4, HLH protein gene DOID:13580 cholestasis ISO RGD:736051 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12361696 ID4 inhibitor of DNA binding 4, HLH protein gene DOID:305 carcinoma ISO RGD:736051 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:14633621 12361696 ID4 inhibitor of DNA binding 4, HLH protein gene DOID:630 genetic disease ISO RGD:736051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361696 ID4 inhibitor of DNA binding 4, HLH protein gene DOID:9000217 Stomach Neoplasms ISO RGD:736051 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12361696 ID4 inhibitor of DNA binding 4, HLH protein gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736051 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:14633621 12361696 ID4 inhibitor of DNA binding 4, HLH protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736051 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12361696 ID4 inhibitor of DNA binding 4, HLH protein gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736051 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:14633621 12361696 ID4 inhibitor of DNA binding 4, HLH protein gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736051 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:14633621 12361702 ANXA2 annexin A2 gene DOID:0080600 COVID-19 ISO RGD:736099 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12361702 ANXA2 annexin A2 gene DOID:10159 osteonecrosis ISO RGD:736099 D RGD:9068941 20200609 RGD PMID:15784727|REF_RGD_ID:1578382 12361702 ANXA2 annexin A2 gene DOID:11476 osteoporosis ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12361702 ANXA2 annexin A2 gene DOID:1350 paranasal sinus benign neoplasm disease_progression ISO RGD:736099 D RGD:9068941 20200609 RGD PMID:20970165|REF_RGD_ID:7421559 12361702 ANXA2 annexin A2 gene DOID:1459 hypothyroidism ISO RGD:621170 D RGD:9068941 20200609 RGD protein:increased expression:thyroid gland: PMID:9022675|REF_RGD_ID:2306952 12361702 ANXA2 annexin A2 gene DOID:1749 squamous cell carcinoma ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12361702 ANXA2 annexin A2 gene DOID:1790 malignant mesothelioma ISO RGD:736099 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:20682992 12361702 ANXA2 annexin A2 gene DOID:2717 Bloom syndrome ISO RGD:736099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12361702 ANXA2 annexin A2 gene DOID:3008 invasive ductal carcinoma treatment ISO RGD:736099 D RGD:9068941 20200609 RGD PMID:19171478|REF_RGD_ID:7421560 12361702 ANXA2 annexin A2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:736099 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, altered localization:pancreas, plasma membrane PMID:16450333|REF_RGD_ID:2325731 12361702 ANXA2 annexin A2 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:736099 D RGD:9068941 20200609 RGD PMID:19260470|REF_RGD_ID:2317307 12361702 ANXA2 annexin A2 gene DOID:4450 renal cell carcinoma ISO RGD:621170 D RGD:9068941 20200609 RGD PMID:14587099|REF_RGD_ID:7421570 12361702 ANXA2 annexin A2 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:736099 D RGD:9068941 20200609 RGD PMID:20493868|REF_RGD_ID:2325728 12361702 ANXA2 annexin A2 gene DOID:630 genetic disease ISO RGD:736099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361702 ANXA2 annexin A2 gene DOID:684 hepatocellular carcinoma ISO RGD:736099 D RGD:9068941 20220721 RGD mRNA, protein:increased expression:liver (human) PMID:33675609|REF_RGD_ID:152999436 12361702 ANXA2 annexin A2 gene DOID:7998 hyperthyroidism ISO RGD:621170 D RGD:9068941 20200609 RGD protein:decreased expression:thyroid gland: PMID:9022675|REF_RGD_ID:2306952 12361702 ANXA2 annexin A2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:621170 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:neuron,glial cell PMID:15248295|REF_RGD_ID:10053688 12361702 ANXA2 annexin A2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22248470 12361702 ANXA2 annexin A2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12361702 ANXA2 annexin A2 gene DOID:9002331 Knee Osteoarthritis disease_progression ISO RGD:736099 D RGD:9068941 20200609 RGD protein:increased expression:chondrocyte: PMID:10903884|REF_RGD_ID:10053727 12361702 ANXA2 annexin A2 gene DOID:9002457 Experimental Arthritis ameliorates ISO RGD:621170 D RGD:9068941 20211015 RGD PMID:24819400|REF_RGD_ID:150519886 12361702 ANXA2 annexin A2 gene DOID:9003936 Cardiomegaly ISO RGD:621170 D RGD:9068941 20200609 RGD mRNA:increased expression:heart: PMID:10603972|REF_RGD_ID:10053694 12361702 ANXA2 annexin A2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15654357 12361702 ANXA2 annexin A2 gene DOID:9004657 Weight Gain ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12361702 ANXA2 annexin A2 gene DOID:9005172 Lung Neoplasms ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20682992 12361702 ANXA2 annexin A2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621170 D RGD:9068941 20200609 RGD protein:increased glycation:respiratory system blood vessel endothelium PMID:11423489|REF_RGD_ID:2306888 12361702 ANXA2 annexin A2 gene DOID:9007188 Liver Neoplasms ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12361702 ANXA2 annexin A2 gene DOID:9007364 Mouth Neoplasms ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12361702 ANXA2 annexin A2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12361702 ANXA2 annexin A2 gene DOID:9007417 Pseudomonas Infections severity ISO RGD:731825 D RGD:9068941 20200924 RGD PMID:26371245|REF_RGD_ID:38676497 12361702 ANXA2 annexin A2 gene DOID:9119 acute myeloid leukemia ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12361702 ANXA2 annexin A2 gene DOID:9256 colorectal cancer ISO RGD:736099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12361717 RPL18A ribosomal protein L18a gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1345925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:28492532 12361717 RPL18A ribosomal protein L18a gene DOID:1574 alcohol use disorder ISO RGD:1302976 D RGD:9068941 20200609 RGD mRNA:decreased expression:parietal cortex PMID:11244494|REF_RGD_ID:11038708 12361717 RPL18A ribosomal protein L18a gene DOID:630 genetic disease ISO RGD:1345925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361717 RPL18A ribosomal protein L18a gene DOID:9003214 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative ISO RGD:1345925 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type PMID:28492532 12361717 RPL18A ribosomal protein L18a gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1345925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12361726 SPMAP2 sperm microtubule associated protein 2 gene DOID:630 genetic disease ISO RGD:1319470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361740 PDZD2 PDZ domain containing 2 gene DOID:630 genetic disease ISO RGD:735643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361740 PDZD2 PDZ domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12361740 PDZD2 PDZ domain containing 2 gene DOID:9008086 Developmental Disabilities ISO RGD:735643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12361768 PMP22 peripheral myelin protein 22 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:69112 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1 PMID:10078969|PMID:10093067|PMID:10211478|PMID:10330345|PMID:10399754|PMID:10586280|PMID:10775544|PMID:10915775|PMID:10982389|PMID:11081809|PMID:11139264|PMID:11314784|PMID:11545686|PMID:11835375|PMID:11920834|PMID:12090404|PMID:12207933|PMID:12402337|PMID:12796555|PMID:12901701|PMID:1303230|PMID:1303281|PMID:14502374|PMID:15099590|PMID:15099592|PMID:15241803|PMID:15285778|PMID:15474367|PMID:1552943|PMID:15537650|PMID:1564512|PMID:16199547|PMID:16288874|PMID:16437560|PMID:1677316|PMID:17576681|PMID:1822787|PMID:18642376|PMID:18698610|PMID:18795802|PMID:19067730|PMID:19259128|PMID:19543269|PMID:19691535|PMID:20301384|PMID:20301566|PMID:20453308|PMID:20493460|PMID:20516806|PMID:20739940|PMID:20842290|PMID:21149811|PMID:21194947|PMID:21228398|PMID:21252112|PMID:21337347|PMID:21692910|PMID:21827951|PMID:21840889|PMID:21962505|PMID:22006697|PMID:22131320|PMID:22190321|PMID:23224996|PMID:23263778|PMID:23649551|PMID:23689413|PMID:23965407|PMID:24646194|PMID:25385046|PMID:25400662|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25640679|PMID:25741868|PMID:26012543|PMID:26102530|PMID:26392352|PMID:26454100|PMID:26467025|PMID:28286897|PMID:28333917|PMID:28374912|PMID:28382305|PMID:28492532|PMID:28600779|PMID:28660751|PMID:28748849|PMID:28981955|PMID:29127354|PMID:29653220|PMID:29896895|PMID:30675404|PMID:31211173|PMID:31393079|PMID:31664448|PMID:32376792|PMID:32412171|PMID:32513719|PMID:32719652|PMID:33131168|PMID:33933451|PMID:34332267|PMID:3467805|PMID:6313869|PMID:7139106|PMID:7649472|PMID:7728152|PMID:7829101|PMID:8012365|PMID:8252046|PMID:8275092|PMID:8492918|PMID:8510709|PMID:8777804|PMID:8894410|PMID:8988161|PMID:8995589|PMID:9004143|PMID:9040737|PMID:9040744|PMID:9055797|PMID:9187667|PMID:9324088|PMID:9371959|PMID:9425015|PMID:9452053|PMID:9452099|PMID:9536098|PMID:9544841|PMID:9585367|PMID:9678704|PMID:9712007|PMID:9748013|PMID:9888385 12361768 PMP22 peripheral myelin protein 22 gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:69112 D RGD:7240710 20180425 OMIM 12361768 PMP22 peripheral myelin protein 22 gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:69112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 3 | ClinVar Annotator: match by term: Dejerine-Sottas disease | ClinVar Annotator: match by term: Dejerine-Sottas syndrome, autosomal dominant PMID:10078969|PMID:10093067|PMID:10211478|PMID:10399754|PMID:10663978|PMID:10982389|PMID:11139264|PMID:11314784|PMID:12090401|PMID:12439896|PMID:12901701|PMID:15285778|PMID:15474367|PMID:1552943|PMID:15537650|PMID:15992829|PMID:18698610|PMID:18795802|PMID:21670407|PMID:21840889|PMID:25385046|PMID:25741868|PMID:26102530|PMID:26392352|PMID:28492532|PMID:32719652|PMID:3467805|PMID:7728152|PMID:7825607|PMID:8275092|PMID:8422677|PMID:8541860|PMID:8995589|PMID:9004143|PMID:9055797|PMID:9187667|PMID:9425015|PMID:9452053|PMID:9544841|PMID:9585367|PMID:9888385 12361768 PMP22 peripheral myelin protein 22 gene DOID:0060041 autism spectrum disorder ISO RGD:69112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23044707|PMID:25741868|PMID:27569545 12361768 PMP22 peripheral myelin protein 22 gene DOID:0060843 hereditary neuropathy with liability to pressure palsies ISO RGD:69112 D RGD:7240710 20180130 OMIM 12361768 PMP22 peripheral myelin protein 22 gene DOID:0060843 hereditary neuropathy with liability to pressure palsies ISO RGD:69112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Neuropathy with Liability to Pressure Palsies | ClinVar Annotator: match by term: Hereditary liability to pressure palsies | ClinVar Annotator: match by term: Tomaculous neuropathy PMID:10078969|PMID:10211478|PMID:10586280|PMID:11081809|PMID:12439896|PMID:12796555|PMID:14502374|PMID:15205993|PMID:15474367|PMID:15537650|PMID:15955700|PMID:16288874|PMID:16437560|PMID:17620487|PMID:18698610|PMID:19067730|PMID:19691535|PMID:20301384|PMID:20842290|PMID:21149811|PMID:21194947|PMID:21228398|PMID:21252112|PMID:21670407|PMID:21692910|PMID:21962505|PMID:23965407|PMID:24239057|PMID:24646194|PMID:25400662|PMID:25741868|PMID:26012543|PMID:26102530|PMID:26392352|PMID:26467025|PMID:28333917|PMID:28374912|PMID:28492532|PMID:30675404|PMID:31664448|PMID:32513719|PMID:32719652|PMID:7649472|PMID:7825607|PMID:8012388|PMID:8252046|PMID:8422677|PMID:8541860|PMID:8894410|PMID:8988161|PMID:9040737|PMID:9371959|PMID:9452099|PMID:9678704|PMID:9712007 12361768 PMP22 peripheral myelin protein 22 gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:69112 D RGD:7240710 20180130 OMIM 12361768 PMP22 peripheral myelin protein 22 gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:69112 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA | ClinVar Annotator: match by term: HMSN 1A PMID:10078969|PMID:10399754|PMID:10489052|PMID:10586280|PMID:10915775|PMID:11081809|PMID:11314784|PMID:11545686|PMID:11835375|PMID:12090404|PMID:12796555|PMID:1301995|PMID:1303281|PMID:1349106|PMID:14502374|PMID:15205993|PMID:15285778|PMID:15474367|PMID:1552536|PMID:1552545|PMID:15537650|PMID:1564512|PMID:15786462|PMID:16437560|PMID:1677316|PMID:1721895|PMID:17796454|PMID:1822787|PMID:18795802|PMID:19067730|PMID:19259128|PMID:19691535|PMID:20301384|PMID:20516806|PMID:20842290|PMID:21149811|PMID:21194947|PMID:21228398|PMID:21252112|PMID:21692910|PMID:21827951|PMID:21840889|PMID:21962505|PMID:22006697|PMID:23689413|PMID:23965407|PMID:24646194|PMID:25385046|PMID:25429913|PMID:25741868|PMID:26012543|PMID:26102530|PMID:26392352|PMID:26467025|PMID:27549087|PMID:28333917|PMID:28492532|PMID:29653220|PMID:30675404|PMID:31393079|PMID:31664448|PMID:32513719|PMID:32719652|PMID:475348|PMID:6313869|PMID:7649472|PMID:7728152|PMID:8105684|PMID:8252046|PMID:8275092|PMID:8492918|PMID:8500795|PMID:8510709|PMID:8988161|PMID:8995589|PMID:9004143|PMID:9040737|PMID:9324088|PMID:9371959|PMID:9425015|PMID:9452053|PMID:9452099|PMID:9543325|PMID:9585367|PMID:9712007|PMID:9888385 12361768 PMP22 peripheral myelin protein 22 gene DOID:0110153 Charcot-Marie-Tooth disease type 1E ISO RGD:69112 D RGD:7240710 20180919 OMIM 12361768 PMP22 peripheral myelin protein 22 gene DOID:0110153 Charcot-Marie-Tooth disease type 1E ISO RGD:69112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease and deafness | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1E PMID:10211478|PMID:10330345|PMID:11545686|PMID:11835375|PMID:11920834|PMID:12578939|PMID:12796555|PMID:15474367|PMID:19067730|PMID:20301384|PMID:20453308|PMID:23279344|PMID:25400662|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28374912|PMID:28492532|PMID:28600779|PMID:32719652|PMID:34332267|PMID:7139106|PMID:7829101|PMID:8995589|PMID:9324088|PMID:9544841 12361768 PMP22 peripheral myelin protein 22 gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:69112 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E PMID:20301384|PMID:21252112|PMID:21692910|PMID:25741868|PMID:26467025|PMID:28333917|PMID:28492532|PMID:9040737|PMID:9371959|PMID:9712007 12361768 PMP22 peripheral myelin protein 22 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:69112 D RGD:7240710 20180130 OMIM 12361768 PMP22 peripheral myelin protein 22 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:69112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:10078969|PMID:10093067|PMID:10211478|PMID:10586280|PMID:10632107|PMID:10737979|PMID:10775544|PMID:11081809|PMID:11140841|PMID:11369192|PMID:11545686|PMID:11835375|PMID:12402337|PMID:12497641|PMID:12578939|PMID:12796555|PMID:12901701|PMID:1301995|PMID:1349106|PMID:14502374|PMID:15099590|PMID:15099592|PMID:15241803|PMID:15474367|PMID:1552536|PMID:1552545|PMID:15537650|PMID:15786462|PMID:16199442|PMID:16437560|PMID:1677316|PMID:16922730|PMID:1721895|PMID:17576681|PMID:17620487|PMID:17707409|PMID:17796454|PMID:1822787|PMID:18380017|PMID:18642376|PMID:19067730|PMID:19259128|PMID:19691535|PMID:19830275|PMID:19909487|PMID:20301384|PMID:20453308|PMID:20516806|PMID:20842290|PMID:21149811|PMID:21194947|PMID:21228398|PMID:21252112|PMID:21337347|PMID:21692910|PMID:21962505|PMID:22006697|PMID:22131320|PMID:22382358|PMID:22730194|PMID:23224996|PMID:23263778|PMID:23279344|PMID:23313019|PMID:23965407|PMID:24239057|PMID:24646194|PMID:25192979|PMID:25400662|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25741868|PMID:26012543|PMID:26102530|PMID:26110377|PMID:26392352|PMID:26467025|PMID:28286897|PMID:28333917|PMID:28492532|PMID:28660751|PMID:28748849|PMID:29127354|PMID:29653220|PMID:29896895|PMID:30675404|PMID:31211173|PMID:31393079|PMID:31664448|PMID:32376792|PMID:32513719|PMID:32719652|PMID:33933451|PMID:34332267|PMID:3467805|PMID:475348|PMID:7649472|PMID:7728152|PMID:8012365|PMID:8012388|PMID:8105684|PMID:8252046|PMID:8500795|PMID:8615087|PMID:8777804|PMID:8988161|PMID:9040737|PMID:9040744|PMID:9187667|PMID:9324088|PMID:9371959|PMID:9452099|PMID:9536098|PMID:9543325|PMID:9585367|PMID:9712007|PMID:9748013 12361768 PMP22 peripheral myelin protein 22 gene DOID:11446 sciatic neuropathy ISO RGD:3359 D RGD:9068941 20200609 RGD PMID:1556154|REF_RGD_ID:1358785 12361768 PMP22 peripheral myelin protein 22 gene DOID:12377 spinal muscular atrophy ISO RGD:69112 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:25741868|PMID:26467025|PMID:28492532 12361768 PMP22 peripheral myelin protein 22 gene DOID:12835 quadriplegia ISO RGD:69112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12427913 12361768 PMP22 peripheral myelin protein 22 gene DOID:12842 Guillain-Barre syndrome ISO RGD:69112 D RGD:7240710 20180130 OMIM 12361768 PMP22 peripheral myelin protein 22 gene DOID:12842 Guillain-Barre syndrome ISO RGD:69112 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Guillain-Barre syndrome, familial PMID:12402337|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28492532|PMID:28981955 12361768 PMP22 peripheral myelin protein 22 gene DOID:12849 autistic disorder ISO RGD:69112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12361768 PMP22 peripheral myelin protein 22 gene DOID:2477 motor peripheral neuropathy ISO RGD:69112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17701891 12361768 PMP22 peripheral myelin protein 22 gene DOID:3213 demyelinating disease ISO RGD:69112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20739560 12361768 PMP22 peripheral myelin protein 22 gene DOID:5419 schizophrenia ISO RGD:69112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12361768 PMP22 peripheral myelin protein 22 gene DOID:574 peripheral nervous system disease ISO RGD:69112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 12361768 PMP22 peripheral myelin protein 22 gene DOID:630 genetic disease ISO RGD:69112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10078969|PMID:10399754|PMID:10775544|PMID:11314784|PMID:12901701|PMID:15285778|PMID:17576681|PMID:20516806|PMID:21149811|PMID:21252112|PMID:21337347|PMID:21840889|PMID:23965407|PMID:25429913|PMID:25741868|PMID:26102530|PMID:26467025|PMID:28286897|PMID:28374912|PMID:28492532|PMID:28660751|PMID:28748849|PMID:28981955|PMID:29653220|PMID:31393079|PMID:32376792|PMID:32719652|PMID:3467805|PMID:7728152|PMID:8275092|PMID:9004143|PMID:9040744|PMID:9187667|PMID:9536098|PMID:9585367|PMID:9888385 12361768 PMP22 peripheral myelin protein 22 gene DOID:870 neuropathy ISO RGD:69112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 12361768 PMP22 peripheral myelin protein 22 gene DOID:9001745 Fasciculation ISO RGD:69112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tongue fasciculations PMID:25741868 12361768 PMP22 peripheral myelin protein 22 gene DOID:9003242 Paresthesia ISO RGD:69112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12427913 12361768 PMP22 peripheral myelin protein 22 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:69112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17275665 12361768 PMP22 peripheral myelin protein 22 gene DOID:9005219 Abnormal Reflexes ISO RGD:69112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12427913 12361768 PMP22 peripheral myelin protein 22 gene DOID:9005532 Muscle Weakness ISO RGD:69112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12427913 12361768 PMP22 peripheral myelin protein 22 gene DOID:9007428 Muscle Spasticity ISO RGD:69112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spasticity PMID:25741868 12361768 PMP22 peripheral myelin protein 22 gene DOID:9008086 Developmental Disabilities ISO RGD:69112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17275665 12361780 TMEM231 transmembrane protein 231 gene DOID:0050777 Joubert syndrome ISO RGD:3008206 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:23012439|PMID:23349226|PMID:25741868|PMID:25869670|PMID:26489029|PMID:27449316|PMID:28492532|PMID:34354814 12361780 TMEM231 transmembrane protein 231 gene DOID:0050778 Meckel syndrome ISO RGD:3008206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:23349226|PMID:25558065|PMID:25741868 12361780 TMEM231 transmembrane protein 231 gene DOID:0060340 ciliopathy ISO RGD:3008206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ciliopathy PMID:25741868|PMID:25869670|PMID:28492532 12361780 TMEM231 transmembrane protein 231 gene DOID:0060373 orofaciodigital syndrome III ISO RGD:3008206 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome III PMID:25741868|PMID:25869670|PMID:26489029|PMID:28492532|PMID:34354814 12361780 TMEM231 transmembrane protein 231 gene DOID:0080205 CAKUT ISO RGD:3008206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:30143558 12361780 TMEM231 transmembrane protein 231 gene DOID:0110989 Joubert syndrome 20 ISO RGD:3008206 D RGD:7240710 20180130 OMIM 12361780 TMEM231 transmembrane protein 231 gene DOID:0110989 Joubert syndrome 20 ISO RGD:3008206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 20 PMID:16199547|PMID:17576681|PMID:23012439|PMID:23349226|PMID:25640679|PMID:25741868|PMID:25869670|PMID:26477546|PMID:26489029|PMID:26982032|PMID:27449316|PMID:27894351|PMID:28289185|PMID:28492532|PMID:31054281|PMID:32055034|PMID:32386258|PMID:34354814|PMID:9536098 12361780 TMEM231 transmembrane protein 231 gene DOID:630 genetic disease ISO RGD:3008206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23012439|PMID:23349226|PMID:25741868|PMID:25869670|PMID:26489029|PMID:27449316|PMID:28492532|PMID:34354814 12361780 TMEM231 transmembrane protein 231 gene DOID:9007120 Meckel Syndrome 11 ISO RGD:3008206 D RGD:7240710 20180130 OMIM 12361780 TMEM231 transmembrane protein 231 gene DOID:9007120 Meckel Syndrome 11 ISO RGD:3008206 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 11 PMID:16199547|PMID:17576681|PMID:23012439|PMID:23349226|PMID:25558065|PMID:25741868|PMID:25869670|PMID:26489029|PMID:28492532|PMID:30143558|PMID:32055034|PMID:32386258|PMID:34354814|PMID:9536098 12361780 TMEM231 transmembrane protein 231 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:3008206 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12361794 RXRB retinoid X receptor beta gene DOID:0050553 JMP syndrome ISO RGD:735628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12361794 RXRB retinoid X receptor beta gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:735628 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 12361794 RXRB retinoid X receptor beta gene DOID:630 genetic disease ISO RGD:735628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361794 RXRB retinoid X receptor beta gene DOID:9000217 Stomach Neoplasms ISO RGD:735628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12361794 RXRB retinoid X receptor beta gene DOID:9000918 Disease Progression ISO RGD:735628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12361794 RXRB retinoid X receptor beta gene DOID:9008939 Breast Neoplasms ISO RGD:735628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22322885 12361815 GPR141 G protein-coupled receptor 141 gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:736698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:28492532 12361815 GPR141 G protein-coupled receptor 141 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12361820 FANCD2 FA complementation group D2 gene DOID:0060474 familial erythrocytosis 2 ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chuvash polycythemia PMID:10567493|PMID:10830910|PMID:17537157|PMID:19280651|PMID:19764026|PMID:20567917|PMID:28492532|PMID:8634692 12361820 FANCD2 FA complementation group D2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1343234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 12361820 FANCD2 FA complementation group D2 gene DOID:0111083 Fanconi anemia complementation group D2 ISO RGD:1343234 D RGD:7240710 20180130 OMIM 12361820 FANCD2 FA complementation group D2 gene DOID:0111083 Fanconi anemia complementation group D2 ISO RGD:1343234 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group D2 PMID:11239453|PMID:16199547|PMID:16280053|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25168418|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:27041517|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30256826|PMID:30306255|PMID:31586946|PMID:32546565|PMID:32581362|PMID:32659967|PMID:32867815|PMID:33558524|PMID:9536098 12361820 FANCD2 FA complementation group D2 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:24728327|PMID:25168418|PMID:25741868|PMID:25927356|PMID:28492532 12361820 FANCD2 FA complementation group D2 gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 12361820 FANCD2 FA complementation group D2 gene DOID:10629 microphthalmia ISO RGD:1615723 D RGD:9068941 20200609 RGD PMID:12893777|REF_RGD_ID:11344906 12361820 FANCD2 FA complementation group D2 gene DOID:13636 Fanconi anemia ISO RGD:1343234 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:11239453|PMID:16199547|PMID:16280053|PMID:17436244|PMID:17576681|PMID:21356188|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25741868|PMID:25927356|PMID:26633542|PMID:27041517|PMID:28492532|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30713837|PMID:31586946|PMID:33558524|PMID:9536098 12361820 FANCD2 FA complementation group D2 gene DOID:13636 Fanconi anemia ISO RGD:1343234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30713837|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33558524|PMID:9536098 12361820 FANCD2 FA complementation group D2 gene DOID:13636 Fanconi anemia ISO RGD:1343234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25640679|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30713837|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33558524|PMID:9536098 12361820 FANCD2 FA complementation group D2 gene DOID:1612 breast cancer ISO RGD:1343234 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:24728327|PMID:25741868|PMID:28492532|PMID:33558524 12361820 FANCD2 FA complementation group D2 gene DOID:2394 ovarian cancer ISO RGD:1343234 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 12361820 FANCD2 FA complementation group D2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1615723 D RGD:9068941 20200609 RGD PMID:20935219|REF_RGD_ID:11344907 12361820 FANCD2 FA complementation group D2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1343234 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:17436244|PMID:21356188|PMID:24728327|PMID:25741868|PMID:28492532 12361820 FANCD2 FA complementation group D2 gene DOID:630 genetic disease ISO RGD:1343234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11239453|PMID:17436244|PMID:25741868|PMID:28492532 12361820 FANCD2 FA complementation group D2 gene DOID:684 hepatocellular carcinoma ISO RGD:1343234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12361820 FANCD2 FA complementation group D2 gene DOID:687 hepatoblastoma ISO RGD:1343234 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:28492532|PMID:28678401|PMID:30306255 12361820 FANCD2 FA complementation group D2 gene DOID:8923 skin melanoma ISO RGD:1343234 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:skin,nucleus: PMID:21697891|REF_RGD_ID:11046262 12361820 FANCD2 FA complementation group D2 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 12361820 FANCD2 FA complementation group D2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12361820 FANCD2 FA complementation group D2 gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 12361820 FANCD2 FA complementation group D2 gene DOID:9006493 Glandular and Epithelial Neoplasms ISO RGD:1615723 D RGD:9068941 20200609 RGD PMID:12893777|REF_RGD_ID:11344906 12361820 FANCD2 FA complementation group D2 gene DOID:9008086 Developmental Disabilities ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25927356|PMID:28492532 12361820 FANCD2 FA complementation group D2 gene DOID:9008539 Perinatal Death ISO RGD:1615723 D RGD:9068941 20200609 RGD PMID:12893777|REF_RGD_ID:11344906 12361820 FANCD2 FA complementation group D2 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:25516202|PMID:28492532 12361879 BRD4 bromodomain containing 4 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1316385 D RGD:9068941 20200609 RGD PMID:23759512|REF_RGD_ID:9586353 12361879 BRD4 bromodomain containing 4 gene DOID:0050888 syndromic intellectual disability ISO RGD:1316385 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:35887114 12361879 BRD4 bromodomain containing 4 gene DOID:0050902 medulloblastoma ISO RGD:1316385 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:24231268|PMID:31594641 12361879 BRD4 bromodomain containing 4 gene DOID:1059 intellectual disability ISO RGD:1316385 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual disability 12361879 BRD4 bromodomain containing 4 gene DOID:10605 short bowel syndrome ISO RGD:1316385 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital short bowel syndrome 1 PMID:25741868 12361879 BRD4 bromodomain containing 4 gene DOID:10907 microcephaly ISO RGD:1316385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 12361879 BRD4 bromodomain containing 4 gene DOID:11725 Cornelia de Lange syndrome ISO RGD:1316385 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: De Lange syndrome PMID:25741868|PMID:34035299 12361879 BRD4 bromodomain containing 4 gene DOID:12679 nephrocalcinosis ISO RGD:1316386 D RGD:9068941 20220825 MouseDO 12361879 BRD4 bromodomain containing 4 gene DOID:1909 melanoma ISO RGD:1316385 D RGD:9068941 20200609 RGD protein:mRNA:skin: PMID:23950209|REF_RGD_ID:9586346 12361879 BRD4 bromodomain containing 4 gene DOID:219 colon cancer ISO RGD:1316385 D RGD:9068941 20200609 RGD PMID:22120039|REF_RGD_ID:9586351 12361879 BRD4 bromodomain containing 4 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1316385 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:bladder: PMID:25120803|REF_RGD_ID:9586352 12361879 BRD4 bromodomain containing 4 gene DOID:3068 glioblastoma ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26455392|PMID:27388964 12361879 BRD4 bromodomain containing 4 gene DOID:3347 osteosarcoma ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24646477 12361879 BRD4 bromodomain containing 4 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:1316386 D RGD:9068941 20200609 RGD PMID:23759512|REF_RGD_ID:9586353 12361879 BRD4 bromodomain containing 4 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1316385 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:thyroid PMID:26707881|REF_RGD_ID:11085509 12361879 BRD4 bromodomain containing 4 gene DOID:630 genetic disease ISO RGD:1316385 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19828451|PMID:28492532 12361879 BRD4 bromodomain containing 4 gene DOID:6432 pulmonary hypertension ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26224795 12361879 BRD4 bromodomain containing 4 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25877301 12361879 BRD4 bromodomain containing 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1316385 D RGD:9068941 20200609 RGD PMID:23950209|REF_RGD_ID:9586346 12361879 BRD4 bromodomain containing 4 gene DOID:9002221 Hyperplasia ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25242322 12361879 BRD4 bromodomain containing 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 12361879 BRD4 bromodomain containing 4 gene DOID:9002928 Colonic Neoplasms ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26752646 12361879 BRD4 bromodomain containing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12361879 BRD4 bromodomain containing 4 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26707881 12361879 BRD4 bromodomain containing 4 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1316386 D RGD:9068941 20200609 RGD protein:increased expression:heart: PMID:23939492|REF_RGD_ID:9586348 12361879 BRD4 bromodomain containing 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12361879 BRD4 bromodomain containing 4 gene DOID:9007661 Dwarfism ISO RGD:1316385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12361879 BRD4 bromodomain containing 4 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1316386 D RGD:9068941 20230209 RGD mRNA,protein:increased expression:heart PMID:33982231|REF_RGD_ID:155883171 12361879 BRD4 bromodomain containing 4 gene DOID:9008582 Developmental Disease ISO RGD:1316385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12361879 BRD4 bromodomain containing 4 gene DOID:9119 acute myeloid leukemia ISO RGD:1316386 D RGD:9068941 20200609 RGD PMID:21814200|REF_RGD_ID:9586350 12361879 BRD4 bromodomain containing 4 gene DOID:987 alopecia ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25242322 12361903 CHST15 carbohydrate sulfotransferase 15 gene DOID:630 genetic disease ISO RGD:1602484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361903 CHST15 carbohydrate sulfotransferase 15 gene DOID:9005172 Lung Neoplasms ISO RGD:1602484 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12361926 RMDN3 regulator of microtubule dynamics 3 gene DOID:2717 Bloom syndrome ISO RGD:1602700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12361926 RMDN3 regulator of microtubule dynamics 3 gene DOID:630 genetic disease ISO RGD:1602700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361926 RMDN3 regulator of microtubule dynamics 3 gene DOID:9256 colorectal cancer ISO RGD:1602700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12361943 COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 gene DOID:0060041 autism spectrum disorder ISO RGD:1321106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23044707|PMID:25741868|PMID:27569545 12361943 COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:1321106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA PMID:25741868 12361943 COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 gene DOID:12849 autistic disorder ISO RGD:1321106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12361943 COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 gene DOID:14330 Parkinson's disease ISO RGD:1321107 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 12361943 COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 gene DOID:3652 Leigh disease ISO RGD:1321106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:17576681|PMID:23814038|PMID:25741868|PMID:28492532|PMID:9536098 12361943 COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1321106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:12928484|PMID:17576681|PMID:23814038|PMID:25741868|PMID:28492532|PMID:32313153|PMID:9536098 12361943 COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 gene DOID:5419 schizophrenia ISO RGD:1321106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12361943 COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 gene DOID:630 genetic disease ISO RGD:1321106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12361943 COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 gene DOID:699 mitochondrial myopathy ISO RGD:1321107 D RGD:9068941 20220825 MouseDO OMIM:251900 12361943 COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1321106 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar Annotator: match by term: Necrotizing encephalopathy infantile subacute of Leigh PMID:25741868|PMID:28492532 12361943 COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 gene DOID:9005748 Mitochondrial Complex IV Deficiency, Nuclear Type 3 ISO RGD:1321106 D RGD:7240710 20201111 OMIM 12361943 COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 gene DOID:9005748 Mitochondrial Complex IV Deficiency, Nuclear Type 3 ISO RGD:1321106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 PMID:10767350|PMID:12928484|PMID:15455402|PMID:25741868|PMID:28492532|PMID:32313153 12361943 COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:1321106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:12928484|PMID:25741868|PMID:28492532|PMID:32313153 12361954 SYNJ2BP synaptojanin 2 binding protein gene DOID:630 genetic disease ISO RGD:736800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361962 GNAT3 G protein subunit alpha transducin 3 gene DOID:12336 male infertility ISO RGD:1604949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23818598 12361962 GNAT3 G protein subunit alpha transducin 3 gene DOID:1826 epilepsy ISO RGD:1604949 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 12361962 GNAT3 G protein subunit alpha transducin 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12361962 GNAT3 G protein subunit alpha transducin 3 gene DOID:630 genetic disease ISO RGD:1604949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361962 GNAT3 G protein subunit alpha transducin 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:727817 D RGD:9068941 20200609 RGD mRNA, protein;increased expression:taste bud PMID:18824257|REF_RGD_ID:2302147 12361972 SQLE squalene epoxidase gene DOID:10211 cholelithiasis ISO RGD:736676 D RGD:9068941 20200609 RGD PMID:14684588|REF_RGD_ID:1581398 12361972 SQLE squalene epoxidase gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:736675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12361972 SQLE squalene epoxidase gene DOID:630 genetic disease ISO RGD:736675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361972 SQLE squalene epoxidase gene DOID:9000808 Hypercholesterolemia ISO RGD:736676 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:25168180|REF_RGD_ID:13782271 12361972 SQLE squalene epoxidase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 12361972 SQLE squalene epoxidase gene DOID:9970 obesity ISO RGD:736676 D RGD:9068941 20200609 RGD PMID:15556298|REF_RGD_ID:1581399 12361990 WBP11 WW domain binding protein 11 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1317378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12361990 WBP11 WW domain binding protein 11 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1317378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12361990 WBP11 WW domain binding protein 11 gene DOID:630 genetic disease ISO RGD:1317378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12361990 WBP11 WW domain binding protein 11 gene DOID:9008737 VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS ISO RGD:1317378 D RGD:7240710 20210421 OMIM 12361990 WBP11 WW domain binding protein 11 gene DOID:9008737 VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS ISO RGD:1317378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vertebral, cardiac, tracheoesophageal, renal, and limb defects | ClinVar Annotator: match by term: WBP11 spliceosomopathy PMID:25741868|PMID:33276377 12362006 MRPS16 mitochondrial ribosomal protein S16 gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1321233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 12362006 MRPS16 mitochondrial ribosomal protein S16 gene DOID:0111483 combined oxidative phosphorylation deficiency 2 ISO RGD:1321233 D RGD:7240710 20180130 OMIM 12362006 MRPS16 mitochondrial ribosomal protein S16 gene DOID:0111483 combined oxidative phosphorylation deficiency 2 ISO RGD:1321233 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 2 PMID:15505824|PMID:18539099|PMID:25741868|PMID:28492532|PMID:28749478 12362006 MRPS16 mitochondrial ribosomal protein S16 gene DOID:630 genetic disease ISO RGD:1321233 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12362013 TACSTD2 tumor associated calcium signal transducer 2 gene DOID:0060449 gelatinous drop-like corneal dystrophy ISO RGD:1342963 D RGD:7240710 20180130 OMIM 12362013 TACSTD2 tumor associated calcium signal transducer 2 gene DOID:0060449 gelatinous drop-like corneal dystrophy ISO RGD:1342963 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lattice corneal dystrophy Type III PMID:10192395|PMID:12107443|PMID:15652848|PMID:17167402|PMID:25741868|PMID:28492532 12362013 TACSTD2 tumor associated calcium signal transducer 2 gene DOID:2566 corneal dystrophy ISO RGD:1342963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal Dystrophy, Dominant/Recessive 12362013 TACSTD2 tumor associated calcium signal transducer 2 gene DOID:289 endometriosis ISO RGD:1342963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12362013 TACSTD2 tumor associated calcium signal transducer 2 gene DOID:630 genetic disease ISO RGD:1342963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362018 KCNJ16 potassium inwardly rectifying channel subfamily J member 16 gene DOID:0050758 metabolic acidosis ISO RGD:61824 D RGD:9068941 20201211 RGD compared to SS/JrHsdMcwi PMID:30605394|REF_RGD_ID:38500203 12362018 KCNJ16 potassium inwardly rectifying channel subfamily J member 16 gene DOID:4500 hypokalemia ISO RGD:61824 D RGD:9068941 20200813 RGD protein:decreased expression:cortical collecting duct, distal convoluted tubule (rat) PMID:28931751|REF_RGD_ID:38500204 12362018 KCNJ16 potassium inwardly rectifying channel subfamily J member 16 gene DOID:9003275 Hypokalemic Tubulopathy and Deafness ISO RGD:1343172 D RGD:7240710 20210825 OMIM 12362018 KCNJ16 potassium inwardly rectifying channel subfamily J member 16 gene DOID:9003275 Hypokalemic Tubulopathy and Deafness ISO RGD:1343172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPOKALEMIC TUBULOPATHY AND DEAFNESS PMID:33811157 12362018 KCNJ16 potassium inwardly rectifying channel subfamily J member 16 gene DOID:9008852 Respiratory Underresponsiveness to Hypoxia and Hypercapnia ISO RGD:61824 D RGD:9068941 20201211 RGD compared to SS/JrHsdMcwi PMID:30605394|REF_RGD_ID:38500203 12362033 UHRF1 ubiquitin like with PHD and ring finger domains 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1352913 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12362033 UHRF1 ubiquitin like with PHD and ring finger domains 1 gene DOID:630 genetic disease ISO RGD:1352913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362033 UHRF1 ubiquitin like with PHD and ring finger domains 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1352913 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12362033 UHRF1 ubiquitin like with PHD and ring finger domains 1 gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:1332040 D RGD:9068941 20200609 RGD PMID:20442318|REF_RGD_ID:9587430 12362063 PAWR pro-apoptotic WT1 regulator gene DOID:10652 Alzheimer's disease ISO RGD:69120 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain: PMID:9701251|REF_RGD_ID:9835364 12362063 PAWR pro-apoptotic WT1 regulator gene DOID:11832 visual epilepsy ISO RGD:69065 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:10349840|REF_RGD_ID:9835366 12362063 PAWR pro-apoptotic WT1 regulator gene DOID:1470 major depressive disorder ISO RGD:69120 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:20067857|REF_RGD_ID:9835359 12362063 PAWR pro-apoptotic WT1 regulator gene DOID:1596 depressive disorder ISO RGD:69065 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum PMID:21596067|REF_RGD_ID:6907449 12362063 PAWR pro-apoptotic WT1 regulator gene DOID:224 transient cerebral ischemia ISO RGD:69065 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:14705148|REF_RGD_ID:1302269 12362063 PAWR pro-apoptotic WT1 regulator gene DOID:224 transient cerebral ischemia ISO RGD:737403 D RGD:9068941 20200609 RGD protein:increased expression:cortex,striatum: PMID:11323519|REF_RGD_ID:9835381 12362063 PAWR pro-apoptotic WT1 regulator gene DOID:299 adenocarcinoma ISO RGD:69120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15877079 12362063 PAWR pro-apoptotic WT1 regulator gene DOID:3525 middle cerebral artery infarction ISO RGD:69065 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:19352052|REF_RGD_ID:9850083 12362063 PAWR pro-apoptotic WT1 regulator gene DOID:3525 middle cerebral artery infarction ISO RGD:737403 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:16403464|REF_RGD_ID:9835380 12362063 PAWR pro-apoptotic WT1 regulator gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:737403 D RGD:9068941 20200609 RGD PMID:11323519|REF_RGD_ID:9835381 12362063 PAWR pro-apoptotic WT1 regulator gene DOID:4947 cholangiocarcinoma ISO RGD:69120 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:cholangiocyte: PMID:20724592|REF_RGD_ID:9835357 12362063 PAWR pro-apoptotic WT1 regulator gene DOID:630 genetic disease ISO RGD:69120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362063 PAWR pro-apoptotic WT1 regulator gene DOID:9000998 Brain Injuries ISO RGD:69065 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain: PMID:11421591|REF_RGD_ID:9835358 12362063 PAWR pro-apoptotic WT1 regulator gene DOID:9002211 Hyperalgesia treatment ISO RGD:69065 D RGD:9068941 20200609 RGD PMID:17179954|REF_RGD_ID:9835416 12362063 PAWR pro-apoptotic WT1 regulator gene DOID:9002304 Prostatic Neoplasms ISO RGD:69120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15877079 12362063 PAWR pro-apoptotic WT1 regulator gene DOID:9004610 Acute Lung Injury ISO RGD:69065 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung,blood vessel: PMID:17136598|REF_RGD_ID:9835397 12362063 PAWR pro-apoptotic WT1 regulator gene DOID:9007715 Endometrial Neoplasms ISO RGD:69120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15877079 12362063 PAWR pro-apoptotic WT1 regulator gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:69065 D RGD:9068941 20200609 RGD PMID:18055876|REF_RGD_ID:9835369 12362063 PAWR pro-apoptotic WT1 regulator gene DOID:9008091 Optic Nerve Injuries ISO RGD:69065 D RGD:9068941 20200609 RGD mRNA:increased expression:retina: PMID:12836167|REF_RGD_ID:1299297 12362073 COA5 cytochrome c oxidase assembly factor 5 gene DOID:0080357 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 ISO RGD:1604134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12362073 COA5 cytochrome c oxidase assembly factor 5 gene DOID:0080359 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 ISO RGD:1604134 D RGD:7240710 20180130 OMIM 12362073 COA5 cytochrome c oxidase assembly factor 5 gene DOID:0080359 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 ISO RGD:1604134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 PMID:21457908 12362073 COA5 cytochrome c oxidase assembly factor 5 gene DOID:630 genetic disease ISO RGD:1604134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362084 ANO2 anoctamin 2 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1352763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 12362084 ANO2 anoctamin 2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1352763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12362084 ANO2 anoctamin 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1352763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12362113 EPYC epiphycan gene DOID:630 genetic disease ISO RGD:1314212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362133 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1346246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 12362133 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27992414 12362133 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346246 D RGD:9068941 20220114 RGD DNA:missense mutation:multiple (human) PMID:25586593|PMID:28942350|REF_RGD_ID:151232290|REF_RGD_ID:151232291 12362133 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346246 D RGD:9068941 20220114 RGD DNA:missense mutations:multiple (human) PMID:22343920|REF_RGD_ID:151232292 12362133 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346246 D RGD:9068941 20220121 RGD PMID:28220884|REF_RGD_ID:151347177 12362133 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12362133 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1346246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 12362133 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:12849 autistic disorder ISO RGD:1346246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12362133 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:13636 Fanconi anemia ISO RGD:1346246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 12362133 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:4621 holoprosencephaly ISO RGD:1346246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:25679214|PMID:25741868|PMID:31680349 12362133 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:630 genetic disease ISO RGD:1346246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362133 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:9003273 Chromosome 8, Trisomy ISO RGD:1346246 D RGD:9068941 20220121 RGD PMID:28220884|REF_RGD_ID:151347177 12362133 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:9003890 X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia ISO RGD:1346246 D RGD:9068941 20220114 RGD DNA:missense mutation:multiple (human) PMID:28942350|REF_RGD_ID:151232291 12362133 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12362133 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1346246 D RGD:9068941 20220121 RGD DNA:missense mutations:multiple (human) PMID:25550361|REF_RGD_ID:151232299 12362133 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1346246 D RGD:9068941 20220121 RGD associated with aging PMID:32027246|REF_RGD_ID:151347178 12362197 GSC2 goosecoid homeobox 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1313301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12362197 GSC2 goosecoid homeobox 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1313301 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12362197 GSC2 goosecoid homeobox 2 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1313301 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12362197 GSC2 goosecoid homeobox 2 gene DOID:0111996 immunodeficiency 51 ISO RGD:1313301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12362197 GSC2 goosecoid homeobox 2 gene DOID:1059 intellectual disability ISO RGD:1313301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12362197 GSC2 goosecoid homeobox 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1313301 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12362197 GSC2 goosecoid homeobox 2 gene DOID:11372 megacolon ISO RGD:1313301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12362197 GSC2 goosecoid homeobox 2 gene DOID:12583 velocardiofacial syndrome ISO RGD:1313301 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12362197 GSC2 goosecoid homeobox 2 gene DOID:12849 autistic disorder ISO RGD:1313301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12362197 GSC2 goosecoid homeobox 2 gene DOID:1826 epilepsy ISO RGD:1313301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12362197 GSC2 goosecoid homeobox 2 gene DOID:5419 schizophrenia ISO RGD:1313301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12362197 GSC2 goosecoid homeobox 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1313301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12362197 GSC2 goosecoid homeobox 2 gene DOID:630 genetic disease ISO RGD:1313301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362197 GSC2 goosecoid homeobox 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12362197 GSC2 goosecoid homeobox 2 gene DOID:9007661 Dwarfism ISO RGD:1313301 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12362197 GSC2 goosecoid homeobox 2 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1313301 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12362214 SNAP91 synaptosome associated protein 91 gene DOID:0111953 immunodeficiency 23 ISO RGD:731271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:24931394 12362214 SNAP91 synaptosome associated protein 91 gene DOID:10652 Alzheimer's disease ISO RGD:731271 D RGD:9068941 20200609 RGD protein:decreased expression:dentate gyrus molecular layer,hippocampus,entorhinal, tempocampal corteces: PMID:20847448|REF_RGD_ID:13506238 12362214 SNAP91 synaptosome associated protein 91 gene DOID:10652 Alzheimer's disease ISO RGD:735275 D RGD:9068941 20200609 RGD denntate gyrus, hippocampus, entorhinal cortex PMID:20847448|REF_RGD_ID:13506238 12362214 SNAP91 synaptosome associated protein 91 gene DOID:3525 middle cerebral artery infarction ISO RGD:69276 D RGD:9068941 20200609 RGD protein:increased degradation:brain PMID:19240038|REF_RGD_ID:13461853 12362214 SNAP91 synaptosome associated protein 91 gene DOID:630 genetic disease ISO RGD:731271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362260 UCP1 uncoupling protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:735821 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:24498895|REF_RGD_ID:10045648 12362260 UCP1 uncoupling protein 1 gene DOID:10763 hypertension ISO RGD:735821 D RGD:9068941 20200609 RGD DNA:polymorphism: :-3826A>G (human) PMID:17635070|REF_RGD_ID:2313626 12362260 UCP1 uncoupling protein 1 gene DOID:11716 prediabetes syndrome ISO RGD:3931 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brown fat PMID:12659879|REF_RGD_ID:2313629 12362260 UCP1 uncoupling protein 1 gene DOID:12858 Huntington's disease ISO RGD:735822 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brown adipose tissue (mouse) PMID:17055784|REF_RGD_ID:10045650 12362260 UCP1 uncoupling protein 1 gene DOID:12858 Huntington's disease treatment ISO RGD:735822 D RGD:9068941 20200609 RGD PMID:20561979|REF_RGD_ID:10045649 12362260 UCP1 uncoupling protein 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:735821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 12362260 UCP1 uncoupling protein 1 gene DOID:6000 congestive heart failure ISO RGD:735821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 12362260 UCP1 uncoupling protein 1 gene DOID:630 genetic disease ISO RGD:735821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362260 UCP1 uncoupling protein 1 gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:735821 D RGD:9068941 20200609 RGD DNA:SNP: :-3826A>G (human) PMID:15120704|REF_RGD_ID:7247625 12362260 UCP1 uncoupling protein 1 gene DOID:9007692 Insulin Resistance ISO RGD:735821 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:5' utr:-112A>C (rs10011540) (human) PMID:16338218|REF_RGD_ID:1624979 12362260 UCP1 uncoupling protein 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735821 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr, exon:-112A>C (rs10011540), p.M229L (human) PMID:11317671|REF_RGD_ID:2313631 12362260 UCP1 uncoupling protein 1 gene DOID:9970 obesity ISO RGD:735821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15592485 12362260 UCP1 uncoupling protein 1 gene DOID:9970 obesity no_association ISO RGD:735821 D RGD:9068941 20200609 RGD DNA:polymorphism: :-3826A>G (human) PMID:8968850|REF_RGD_ID:1624977 12362272 AKT3 AKT serine/threonine kinase 3 gene DOID:0050576 Senior-Loken syndrome ISO RGD:735623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia 12362272 AKT3 AKT serine/threonine kinase 3 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:735623 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12362272 AKT3 AKT serine/threonine kinase 3 gene DOID:0080600 COVID-19 ISO RGD:735623 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12362272 AKT3 AKT serine/threonine kinase 3 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:735623 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22729223 12362272 AKT3 AKT serine/threonine kinase 3 gene DOID:0110138 Bardet-Biedl syndrome 16 ISO RGD:735623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 PMID:28492532 12362272 AKT3 AKT serine/threonine kinase 3 gene DOID:10283 prostate cancer severity ISO RGD:735623 D RGD:9068941 20200609 RGD DNA:SNP: :rs2125230 (human) PMID:22546513|REF_RGD_ID:13504678 12362272 AKT3 AKT serine/threonine kinase 3 gene DOID:11372 megacolon ISO RGD:735623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12362272 AKT3 AKT serine/threonine kinase 3 gene DOID:1540 parathyroid carcinoma ISO RGD:735623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12362272 AKT3 AKT serine/threonine kinase 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:735623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 12362272 AKT3 AKT serine/threonine kinase 3 gene DOID:219 colon cancer treatment ISO RGD:735623 D RGD:9068941 20200609 RGD PMID:20811704|REF_RGD_ID:13209140 12362272 AKT3 AKT serine/threonine kinase 3 gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:735623 D RGD:9068941 20200609 RGD PMID:20638364|REF_RGD_ID:13504677 12362272 AKT3 AKT serine/threonine kinase 3 gene DOID:3068 glioblastoma disease_progression ISO RGD:735623 D RGD:9068941 20200609 RGD PMID:27422127|REF_RGD_ID:13674164 12362272 AKT3 AKT serine/threonine kinase 3 gene DOID:3069 malignant astrocytoma severity ISO RGD:735623 D RGD:9068941 20200609 RGD PMID:20167810|REF_RGD_ID:13674163 12362272 AKT3 AKT serine/threonine kinase 3 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735623 D RGD:9068941 20200609 RGD PMID:19846969|REF_RGD_ID:13432583 12362272 AKT3 AKT serine/threonine kinase 3 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:735623 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (human) PMID:27919956|REF_RGD_ID:13451128 12362272 AKT3 AKT serine/threonine kinase 3 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:735623 D RGD:9068941 20200609 RGD DNA:missense mutation:exon, intron:multiple PMID:23378641|REF_RGD_ID:13503319 12362272 AKT3 AKT serine/threonine kinase 3 gene DOID:630 genetic disease ISO RGD:735623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22729224|PMID:23745724|PMID:24705253|PMID:25741868|PMID:28492532|PMID:28969385|PMID:29286531|PMID:33176815 12362272 AKT3 AKT serine/threonine kinase 3 gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:735623 D RGD:7240710 20180130 OMIM 12362272 AKT3 AKT serine/threonine kinase 3 gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:735623 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 PMID:17576681|PMID:18813315|PMID:22500628|PMID:22729223|PMID:22729224|PMID:23745724|PMID:24705253|PMID:25087610|PMID:25416470|PMID:25523067|PMID:25741868|PMID:28086757|PMID:28492532|PMID:28969385|PMID:29286531|PMID:31471318|PMID:33176815|PMID:34170046|PMID:9536098 12362272 AKT3 AKT serine/threonine kinase 3 gene DOID:9002403 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome ISO RGD:735623 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22729224 12362272 AKT3 AKT serine/threonine kinase 3 gene DOID:9002647 Megalencephaly - Cutis Marmorata Telangiectatica Congenita ISO RGD:735623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome PMID:22729224|PMID:23745724|PMID:25416470|PMID:25523067|PMID:28086757 12362272 AKT3 AKT serine/threonine kinase 3 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:735623 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:17576681|PMID:20835237|PMID:22190896|PMID:25640679|PMID:25741868|PMID:28492532|PMID:9536098 12362272 AKT3 AKT serine/threonine kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12362272 AKT3 AKT serine/threonine kinase 3 gene DOID:9008086 Developmental Disabilities ISO RGD:735623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22729224|PMID:23745724|PMID:24705253|PMID:25741868|PMID:28492532|PMID:28969385|PMID:29286531|PMID:33176815 12362272 AKT3 AKT serine/threonine kinase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12362311 PPFIA1 PTPRF interacting protein alpha 1 gene DOID:1059 intellectual disability ISO RGD:1319111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12362311 PPFIA1 PTPRF interacting protein alpha 1 gene DOID:630 genetic disease ISO RGD:1319111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362351 B9D2 B9 domain containing 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29483653 12362351 B9D2 B9 domain containing 2 gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:28891831|REF_RGD_ID:14995457 12362351 B9D2 B9 domain containing 2 gene DOID:0050697 chorioamnionitis severity ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:amniotic fluid PMID:19332995|REF_RGD_ID:4145137 12362351 B9D2 B9 domain containing 2 gene DOID:0050777 Joubert syndrome ISO RGD:69095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12362351 B9D2 B9 domain containing 2 gene DOID:0060224 atrial fibrillation ISO RGD:69095 D RGD:9068941 20230330 RGD associated with heart valve disease;protein:increased expression:right atrial myocardium PMID:33236535|REF_RGD_ID:242905189 12362351 B9D2 B9 domain containing 2 gene DOID:0080000 muscular disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21152098 12362351 B9D2 B9 domain containing 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69095 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:21664615|PMID:32613381 12362351 B9D2 B9 domain containing 2 gene DOID:0080820 occupational asthma ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25721048 12362351 B9D2 B9 domain containing 2 gene DOID:0081292 traumatic brain injury treatment ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:28433746|REF_RGD_ID:14995478 12362351 B9D2 B9 domain containing 2 gene DOID:0111243 acromicric dysplasia ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 12362351 B9D2 B9 domain containing 2 gene DOID:10140 dry eye syndrome ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22194977 12362351 B9D2 B9 domain containing 2 gene DOID:10283 prostate cancer ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:1289674|REF_RGD_ID:7394822 12362351 B9D2 B9 domain containing 2 gene DOID:10322 berylliosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15750822|PMID:17785866 12362351 B9D2 B9 domain containing 2 gene DOID:10322 berylliosis severity ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-509C>T (human) PMID:17785866|REF_RGD_ID:4145294 12362351 B9D2 B9 domain containing 2 gene DOID:10763 hypertension ISO RGD:69051 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus PMID:12771048|REF_RGD_ID:12879474 12362351 B9D2 B9 domain containing 2 gene DOID:10763 hypertension ISO RGD:69051 D RGD:9068941 20200609 RGD protein:increased expression:vascular associated smooth muscle cell PMID:17364610|REF_RGD_ID:1601552 12362351 B9D2 B9 domain containing 2 gene DOID:10763 hypertension ISO RGD:69051 D RGD:9068941 20200903 RGD mRNA:increased expression:kidney (SHRSP/A3N rat) PMID:11682445|PMID:11907153|REF_RGD_ID:28912746|REF_RGD_ID:30296650 12362351 B9D2 B9 domain containing 2 gene DOID:10763 hypertension ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11682445|PMID:19018797 12362351 B9D2 B9 domain containing 2 gene DOID:10923 sickle cell anemia ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:26928604|REF_RGD_ID:11062147 12362351 B9D2 B9 domain containing 2 gene DOID:11168 anogenital venereal wart ISO RGD:69095 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 12362351 B9D2 B9 domain containing 2 gene DOID:11204 allergic conjunctivitis treatment ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:16914468|REF_RGD_ID:11041889 12362351 B9D2 B9 domain containing 2 gene DOID:11263 chlamydia treatment ISO RGD:69095 D RGD:9068941 20200807 RGD PMID:30832593|REF_RGD_ID:38455984 12362351 B9D2 B9 domain containing 2 gene DOID:11335 sarcoidosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17785866 12362351 B9D2 B9 domain containing 2 gene DOID:114 heart disease ISO RGD:69095 D RGD:9068941 20200609 RGD associated with pulmonary hypertension;mRNA:increased expression:lung, arteriole PMID:15938827|REF_RGD_ID:1601581 12362351 B9D2 B9 domain containing 2 gene DOID:11476 osteoporosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12706579 12362351 B9D2 B9 domain containing 2 gene DOID:11476 osteoporosis treatment ISO RGD:69051 D RGD:9068941 20200609 RGD associated with Uremia;protein:increased expression:osteoblast, osteoclast PMID:17647196|REF_RGD_ID:10003128 12362351 B9D2 B9 domain containing 2 gene DOID:11664 nephrosclerosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 12362351 B9D2 B9 domain containing 2 gene DOID:1168 familial hyperlipidemia ISO RGD:69051 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney cortex PMID:19001732|REF_RGD_ID:2306735 12362351 B9D2 B9 domain containing 2 gene DOID:1168 familial hyperlipidemia treatment ISO RGD:69051 D RGD:9068941 20200609 RGD associated with Chronic Kidney Failure;mRNA:increased expression:kidney PMID:16834981|REF_RGD_ID:1601559 12362351 B9D2 B9 domain containing 2 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641384 12362351 B9D2 B9 domain containing 2 gene DOID:1184 nephrotic syndrome ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10515446|PMID:1281619|PMID:8023968 12362351 B9D2 B9 domain containing 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:22134166|REF_RGD_ID:11073617 12362351 B9D2 B9 domain containing 2 gene DOID:1205 allergic disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138248|PMID:21625544 12362351 B9D2 B9 domain containing 2 gene DOID:12134 factor VIII deficiency treatment ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphism: :869T>C(rs1982037)(human) PMID:25930091|REF_RGD_ID:11055683 12362351 B9D2 B9 domain containing 2 gene DOID:12236 primary biliary cholangitis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12362351 B9D2 B9 domain containing 2 gene DOID:12306 vitiligo ISO RGD:69095 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:22342018|REF_RGD_ID:8663475 12362351 B9D2 B9 domain containing 2 gene DOID:12361 Graves' disease ISO RGD:69095 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 12362351 B9D2 B9 domain containing 2 gene DOID:12449 aplastic anemia severity ISO RGD:69095 D RGD:9068941 20200609 RGD protein:decreased expression: : PMID:24028718|REF_RGD_ID:11073606 12362351 B9D2 B9 domain containing 2 gene DOID:12449 aplastic anemia susceptibility ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphism: :509C>T(human) PMID:24362456|REF_RGD_ID:11073601 12362351 B9D2 B9 domain containing 2 gene DOID:12577 urethral obstruction treatment ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:24066596|REF_RGD_ID:7394856 12362351 B9D2 B9 domain containing 2 gene DOID:12894 Sjogren's syndrome ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:9358754|REF_RGD_ID:7394829 12362351 B9D2 B9 domain containing 2 gene DOID:12894 Sjogren's syndrome ISO RGD:69096 D RGD:9068941 20220825 MouseDO OMIM:270150 12362351 B9D2 B9 domain containing 2 gene DOID:12894 Sjogren's syndrome severity ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:7554451|REF_RGD_ID:7394845 12362351 B9D2 B9 domain containing 2 gene DOID:12932 endomyocardial fibrosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25450231 12362351 B9D2 B9 domain containing 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16191423|PMID:18682491|PMID:20493835 12362351 B9D2 B9 domain containing 2 gene DOID:13141 uveitis treatment ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:9008650|REF_RGD_ID:7394815 12362351 B9D2 B9 domain containing 2 gene DOID:13241 Behcet's disease ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:exon (human) PMID:21640045|REF_RGD_ID:5147902 12362351 B9D2 B9 domain containing 2 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:24399159|REF_RGD_ID:11073604 12362351 B9D2 B9 domain containing 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:69095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12362351 B9D2 B9 domain containing 2 gene DOID:13406 pulmonary sarcoidosis severity ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-509C>T (human) PMID:17785866|REF_RGD_ID:4145294 12362351 B9D2 B9 domain containing 2 gene DOID:13413 hepatic encephalopathy treatment ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:30940161|REF_RGD_ID:14995440 12362351 B9D2 B9 domain containing 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:69095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12362351 B9D2 B9 domain containing 2 gene DOID:13608 biliary atresia treatment ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:30686515|REF_RGD_ID:14985228 12362351 B9D2 B9 domain containing 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:69095 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:28789951|PMID:30026087|PMID:31932644 12362351 B9D2 B9 domain containing 2 gene DOID:13922 eosinophilic esophagitis ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:24486052|REF_RGD_ID:11073602 12362351 B9D2 B9 domain containing 2 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 12362351 B9D2 B9 domain containing 2 gene DOID:1485 cystic fibrosis ISO RGD:69095 D RGD:7240710 20180130 OMIM 12362351 B9D2 B9 domain containing 2 gene DOID:1485 cystic fibrosis ISO RGD:69095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:16207846|PMID:17293864|PMID:18292811|PMID:18424453|PMID:25741868|PMID:28492532 12362351 B9D2 B9 domain containing 2 gene DOID:1520 colon carcinoma disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:11166150|REF_RGD_ID:13432074 12362351 B9D2 B9 domain containing 2 gene DOID:1532 pleural disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 12362351 B9D2 B9 domain containing 2 gene DOID:1555 urticaria ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138248 12362351 B9D2 B9 domain containing 2 gene DOID:1588 thrombocytopenia ISO RGD:69096 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:22134166|REF_RGD_ID:11073617 12362351 B9D2 B9 domain containing 2 gene DOID:1612 breast cancer ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:7543740|REF_RGD_ID:7394794 12362351 B9D2 B9 domain containing 2 gene DOID:1612 breast cancer disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:18075785|REF_RGD_ID:7394832 12362351 B9D2 B9 domain containing 2 gene DOID:1612 breast cancer no_association ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphism: :29T>C (human) PMID:20157775|REF_RGD_ID:7394854 12362351 B9D2 B9 domain containing 2 gene DOID:1612 breast cancer no_association ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.L10P (human) PMID:17848193|REF_RGD_ID:7394853 12362351 B9D2 B9 domain containing 2 gene DOID:1612 breast cancer severity ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNP: :rs1982073 (human) PMID:20640597|REF_RGD_ID:7394846 12362351 B9D2 B9 domain containing 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-509 C>T (human) PMID:20232138|REF_RGD_ID:7394850 12362351 B9D2 B9 domain containing 2 gene DOID:1612 breast cancer treatment ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:2021547|REF_RGD_ID:7394824 12362351 B9D2 B9 domain containing 2 gene DOID:1724 duodenal ulcer ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12868675 12362351 B9D2 B9 domain containing 2 gene DOID:1749 squamous cell carcinoma ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20852150 12362351 B9D2 B9 domain containing 2 gene DOID:1793 pancreatic cancer ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23992306 12362351 B9D2 B9 domain containing 2 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:18787407|REF_RGD_ID:2325015 12362351 B9D2 B9 domain containing 2 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16933058|REF_RGD_ID:2325018 12362351 B9D2 B9 domain containing 2 gene DOID:182 calcinosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 12362351 B9D2 B9 domain containing 2 gene DOID:1826 epilepsy ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29483653 12362351 B9D2 B9 domain containing 2 gene DOID:1875 impotence ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:27051243|REF_RGD_ID:14995446 12362351 B9D2 B9 domain containing 2 gene DOID:1875 impotence ISO RGD:69051 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:penis PMID:18778311|REF_RGD_ID:2306738 12362351 B9D2 B9 domain containing 2 gene DOID:2048 autoimmune hepatitis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 12362351 B9D2 B9 domain containing 2 gene DOID:219 colon cancer treatment ISO RGD:69051 D RGD:9068941 20210611 RGD PMID:33360052|REF_RGD_ID:127229954 12362351 B9D2 B9 domain containing 2 gene DOID:2224 essential thrombocythemia ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15682418 12362351 B9D2 B9 domain containing 2 gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:69095 D RGD:9068941 20200609 RGD Camurati-Engelmann Syndrome, OMIM:131300;DNA:missense mutations: :p.R218H, p.R218C, p.C225R (human) PMID:10973241|REF_RGD_ID:1601550 12362351 B9D2 B9 domain containing 2 gene DOID:2316 brain ischemia ISO RGD:69051 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:14997937|REF_RGD_ID:2302105 12362351 B9D2 B9 domain containing 2 gene DOID:234 colon adenocarcinoma disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:9019169|REF_RGD_ID:13432089 12362351 B9D2 B9 domain containing 2 gene DOID:2340 craniosynostosis ISO RGD:69095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12362351 B9D2 B9 domain containing 2 gene DOID:2349 arteriosclerosis ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:16733295|REF_RGD_ID:1580959 12362351 B9D2 B9 domain containing 2 gene DOID:2615 papilloma ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20172950 12362351 B9D2 B9 domain containing 2 gene DOID:2615 papilloma disease_progression ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:7954410|REF_RGD_ID:7394796 12362351 B9D2 B9 domain containing 2 gene DOID:2841 asthma ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:18366906|REF_RGD_ID:4145280 12362351 B9D2 B9 domain containing 2 gene DOID:2841 asthma ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16365456|PMID:19138248 12362351 B9D2 B9 domain containing 2 gene DOID:2841 asthma ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNP:cds:915G>C (human) PMID:19046298|REF_RGD_ID:4145142 12362351 B9D2 B9 domain containing 2 gene DOID:2841 asthma ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:multiple (human) PMID:19096005|REF_RGD_ID:4145143 12362351 B9D2 B9 domain containing 2 gene DOID:2841 asthma ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphism: :-509C>T (human) PMID:18711258|PMID:19222424|REF_RGD_ID:4143443|REF_RGD_ID:4145299 12362351 B9D2 B9 domain containing 2 gene DOID:2841 asthma ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19317336|REF_RGD_ID:4145139 12362351 B9D2 B9 domain containing 2 gene DOID:2841 asthma ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:19620629|REF_RGD_ID:4145132 12362351 B9D2 B9 domain containing 2 gene DOID:2841 asthma ISO RGD:69096 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20485865|REF_RGD_ID:4145113 12362351 B9D2 B9 domain containing 2 gene DOID:2841 asthma no_association ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNP:cds:915G>C (human) PMID:19533439|REF_RGD_ID:4145297 12362351 B9D2 B9 domain containing 2 gene DOID:2841 asthma no_association ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:19136038|REF_RGD_ID:4145144 12362351 B9D2 B9 domain containing 2 gene DOID:2841 asthma onset ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNP: :-509C>T (human) PMID:17673695|REF_RGD_ID:4145295 12362351 B9D2 B9 domain containing 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:69051 D RGD:9068941 20200702 RGD protein:increased expression:serum, bronchoalveolar Lavage fluid (rat) PMID:16409721|REF_RGD_ID:32726073 12362351 B9D2 B9 domain containing 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:69095 D RGD:9068941 20200702 RGD protein:increased expression:serum (human) PMID:15271897|REF_RGD_ID:32716401 12362351 B9D2 B9 domain containing 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11728950 12362351 B9D2 B9 domain containing 2 gene DOID:299 adenocarcinoma ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17418594 12362351 B9D2 B9 domain containing 2 gene DOID:3021 acute kidney failure ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10469268 12362351 B9D2 B9 domain containing 2 gene DOID:305 carcinoma ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12417722 12362351 B9D2 B9 domain containing 2 gene DOID:3082 interstitial lung disease ISO RGD:69095 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid;protein:increased expression:serum PMID:18846962|REF_RGD_ID:4145270 12362351 B9D2 B9 domain containing 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:18269849|REF_RGD_ID:4145292 12362351 B9D2 B9 domain containing 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16365456|PMID:31349846 12362351 B9D2 B9 domain containing 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19186046|REF_RGD_ID:4145140 12362351 B9D2 B9 domain containing 2 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphisms: :509C>T, 869T>C (human) PMID:19186046|REF_RGD_ID:4145140 12362351 B9D2 B9 domain containing 2 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNP:exon:869T>C (human) PMID:20193474|REF_RGD_ID:4145115 12362351 B9D2 B9 domain containing 2 gene DOID:3227 tracheal stenosis susceptibility ISO RGD:69095 D RGD:9068941 20200609 RGD associated with Ventilator-Induced Lung Injury;DNA:polymorphism: :-509C>T (human) PMID:20172396|REF_RGD_ID:4145116 12362351 B9D2 B9 domain containing 2 gene DOID:3310 atopic dermatitis ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:11496247|REF_RGD_ID:7394812 12362351 B9D2 B9 domain containing 2 gene DOID:3407 carotid artery disease ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:17119348|REF_RGD_ID:1601556 12362351 B9D2 B9 domain containing 2 gene DOID:3498 pancreatic ductal adenocarcinoma ameliorates ISO RGD:69095 D RGD:9068941 20221027 RGD protein:decreased expression:pancreas (human) PMID:8253361|REF_RGD_ID:155630628 12362351 B9D2 B9 domain containing 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:31409163|REF_RGD_ID:14995477 12362351 B9D2 B9 domain containing 2 gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:69096 D RGD:9068941 20230330 RGD PMID:28630232|REF_RGD_ID:242905192 12362351 B9D2 B9 domain containing 2 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:16101174|REF_RGD_ID:2325019 12362351 B9D2 B9 domain containing 2 gene DOID:3770 pulmonary fibrosis ISO RGD:69051 D RGD:9068941 20200609 RGD associated with Silicosis PMID:19439069|REF_RGD_ID:2307220 12362351 B9D2 B9 domain containing 2 gene DOID:3770 pulmonary fibrosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15286001|PMID:16324872|PMID:16365456|PMID:17266442|PMID:19817698|PMID:24762191|PMID:26817844 12362351 B9D2 B9 domain containing 2 gene DOID:3770 pulmonary fibrosis ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:18403781|REF_RGD_ID:4145279 12362351 B9D2 B9 domain containing 2 gene DOID:3770 pulmonary fibrosis ISO RGD:69096 D RGD:9068941 20200609 RGD associated with Asthma PMID:19542246|REF_RGD_ID:4145133 12362351 B9D2 B9 domain containing 2 gene DOID:3770 pulmonary fibrosis ISO RGD:69096 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20833968|REF_RGD_ID:4145112 12362351 B9D2 B9 domain containing 2 gene DOID:3770 pulmonary fibrosis ISO RGD:69096 D RGD:9068941 20200619 RGD associated with Middle East respiratory syndrome;mRNA:increased expression:lung PMID:31838832|REF_RGD_ID:30309204 12362351 B9D2 B9 domain containing 2 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:26822530|REF_RGD_ID:14995444 12362351 B9D2 B9 domain containing 2 gene DOID:3892 insulinoma ISO RGD:69095 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:pancreatic islet PMID:18058603|REF_RGD_ID:2325017 12362351 B9D2 B9 domain containing 2 gene DOID:4236 carcinosarcoma ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15132766 12362351 B9D2 B9 domain containing 2 gene DOID:4450 renal cell carcinoma ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:26749573|REF_RGD_ID:11560966 12362351 B9D2 B9 domain containing 2 gene DOID:4450 renal cell carcinoma ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood PMID:25499257|REF_RGD_ID:13506175 12362351 B9D2 B9 domain containing 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:26631499|REF_RGD_ID:13506173 12362351 B9D2 B9 domain containing 2 gene DOID:4481 allergic rhinitis treatment ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:31368266|REF_RGD_ID:14995445 12362351 B9D2 B9 domain containing 2 gene DOID:4483 rhinitis ISO RGD:69095 D RGD:9068941 20200609 RGD associated with Sinusitis PMID:18423831|REF_RGD_ID:4145277 12362351 B9D2 B9 domain containing 2 gene DOID:4676 uremia ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 12362351 B9D2 B9 domain containing 2 gene DOID:4947 cholangiocarcinoma ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:12632524|REF_RGD_ID:1299231 12362351 B9D2 B9 domain containing 2 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:16083599|REF_RGD_ID:2325020 12362351 B9D2 B9 domain containing 2 gene DOID:4971 myelofibrosis ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:plasma,bone marrow: PMID:23462118|REF_RGD_ID:11073609 12362351 B9D2 B9 domain containing 2 gene DOID:4971 myelofibrosis ISO RGD:69096 D RGD:9068941 20200609 RGD mRNA:increased expression:spleen,bone marrow: PMID:23462118|REF_RGD_ID:11073609 12362351 B9D2 B9 domain containing 2 gene DOID:4971 myelofibrosis treatment ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:23462118|REF_RGD_ID:11073609 12362351 B9D2 B9 domain containing 2 gene DOID:4997 Camurati-Engelmann disease ISO RGD:69095 D RGD:7240710 20180130 OMIM 12362351 B9D2 B9 domain containing 2 gene DOID:4997 Camurati-Engelmann disease ISO RGD:69095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diaphyseal dysplasia PMID:10973241|PMID:11062463|PMID:11278244|PMID:12843182|PMID:15103729|PMID:15326622|PMID:16207846|PMID:17293864|PMID:18292811|PMID:18424453|PMID:19584867|PMID:20308061|PMID:23846138|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812 12362351 B9D2 B9 domain containing 2 gene DOID:5082 liver cirrhosis ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:30686515|REF_RGD_ID:14985228 12362351 B9D2 B9 domain containing 2 gene DOID:5199 ureteral obstruction ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17164399 12362351 B9D2 B9 domain containing 2 gene DOID:552 pneumonia ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12362351 B9D2 B9 domain containing 2 gene DOID:552 pneumonia ISO RGD:69096 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19965809|REF_RGD_ID:4145120 12362351 B9D2 B9 domain containing 2 gene DOID:552 pneumonia severity ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:19181604|REF_RGD_ID:4145141 12362351 B9D2 B9 domain containing 2 gene DOID:557 kidney disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11682445|PMID:14675041|PMID:18390891 12362351 B9D2 B9 domain containing 2 gene DOID:57 aortic valve insufficiency ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 12362351 B9D2 B9 domain containing 2 gene DOID:576 proteinuria ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12937228 12362351 B9D2 B9 domain containing 2 gene DOID:576 proteinuria ameliorates ISO RGD:69051 D RGD:9068941 20210827 RGD PMID:23249995|REF_RGD_ID:13446413 12362351 B9D2 B9 domain containing 2 gene DOID:5773 oral submucous fibrosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 12362351 B9D2 B9 domain containing 2 gene DOID:5773 oral submucous fibrosis ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:10680515|REF_RGD_ID:7394849 12362351 B9D2 B9 domain containing 2 gene DOID:5844 myocardial infarction ISO RGD:69051 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart: PMID:27121011|REF_RGD_ID:11073666 12362351 B9D2 B9 domain containing 2 gene DOID:5844 myocardial infarction ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16310260 12362351 B9D2 B9 domain containing 2 gene DOID:5844 myocardial infarction susceptibility ISO RGD:69095 D RGD:9068941 20200609 RGD associated with Coronary Disease;DNA:polymorphism:promoter:-509C>T (human) PMID:16543493|REF_RGD_ID:1601560 12362351 B9D2 B9 domain containing 2 gene DOID:585 nephrolithiasis treatment ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:24712822|REF_RGD_ID:11073675 12362351 B9D2 B9 domain containing 2 gene DOID:630 genetic disease ISO RGD:69095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12362351 B9D2 B9 domain containing 2 gene DOID:6432 pulmonary hypertension ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:19324949|REF_RGD_ID:4145138 12362351 B9D2 B9 domain containing 2 gene DOID:6432 pulmonary hypertension onset ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18496036|REF_RGD_ID:4145273 12362351 B9D2 B9 domain containing 2 gene DOID:674 cleft palate ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25450421 12362351 B9D2 B9 domain containing 2 gene DOID:684 hepatocellular carcinoma ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9029167 12362351 B9D2 B9 domain containing 2 gene DOID:684 hepatocellular carcinoma ISO RGD:69096 D RGD:9068941 20210702 RGD mRNA:increased expression:liver (mouse) PMID:28100771|REF_RGD_ID:127285675 12362351 B9D2 B9 domain containing 2 gene DOID:783 end stage renal disease ISO RGD:69051 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:10919844|REF_RGD_ID:7394838 12362351 B9D2 B9 domain containing 2 gene DOID:783 end stage renal disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 12362351 B9D2 B9 domain containing 2 gene DOID:8398 osteoarthritis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 12362351 B9D2 B9 domain containing 2 gene DOID:8472 localized scleroderma ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:7510487|REF_RGD_ID:7394847 12362351 B9D2 B9 domain containing 2 gene DOID:850 lung disease ISO RGD:69051 D RGD:9068941 20200609 RGD Acute Lung Injury;mRNA, protein:increased expression:lung, plasma PMID:19639047|REF_RGD_ID:4145127 12362351 B9D2 B9 domain containing 2 gene DOID:850 lung disease ISO RGD:69051 D RGD:9068941 20200609 RGD associated with Endotoxemia;mRNA, protein:increased expression:lung PMID:19941153|REF_RGD_ID:4145122 12362351 B9D2 B9 domain containing 2 gene DOID:850 lung disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11472967 12362351 B9D2 B9 domain containing 2 gene DOID:850 lung disease ISO RGD:69095 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:SNPs: :rs1800469, rs1982073, rs8179181 (human PMID:18424453|REF_RGD_ID:4145276 12362351 B9D2 B9 domain containing 2 gene DOID:850 lung disease severity ISO RGD:69095 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:SNP:exon:869T>C (human) PMID:19466271|REF_RGD_ID:4144796 12362351 B9D2 B9 domain containing 2 gene DOID:8552 chronic myeloid leukemia ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:29951173|REF_RGD_ID:13782079 12362351 B9D2 B9 domain containing 2 gene DOID:8616 Peyronie's disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14996430 12362351 B9D2 B9 domain containing 2 gene DOID:874 bacterial pneumonia severity ISO RGD:69096 D RGD:9068941 20200820 RGD PMID:25398094|REF_RGD_ID:38501102 12362351 B9D2 B9 domain containing 2 gene DOID:8866 actinic keratosis ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:9274625|REF_RGD_ID:7394827 12362351 B9D2 B9 domain containing 2 gene DOID:8893 psoriasis severity ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15072741|REF_RGD_ID:7394851 12362351 B9D2 B9 domain containing 2 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:69095 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:24763013|REF_RGD_ID:11073603 12362351 B9D2 B9 domain containing 2 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:69095 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:24801815|REF_RGD_ID:11073600 12362351 B9D2 B9 domain containing 2 gene DOID:8924 autoimmune thrombocytopenic purpura disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:11886393|REF_RGD_ID:11073598 12362351 B9D2 B9 domain containing 2 gene DOID:90 degenerative disc disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21351055 12362351 B9D2 B9 domain containing 2 gene DOID:9000011 Gallbladder Neoplasms susceptibility ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphism: : -509C>T (human) PMID:18571008|REF_RGD_ID:2317641 12362351 B9D2 B9 domain containing 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:15145083|REF_RGD_ID:2302103 12362351 B9D2 B9 domain containing 2 gene DOID:9000784 Fibrosis ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:26923362|REF_RGD_ID:11073665 12362351 B9D2 B9 domain containing 2 gene DOID:9000784 Fibrosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10469268|PMID:16306446|PMID:17947678|PMID:18705752|PMID:24142982|PMID:26054450|PMID:27870162|PMID:30809271 12362351 B9D2 B9 domain containing 2 gene DOID:9000784 Fibrosis ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:2054795|PMID:9389733|REF_RGD_ID:737732|REF_RGD_ID:7394820 12362351 B9D2 B9 domain containing 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23146760|PMID:23992306|PMID:26896736|PMID:31381904 12362351 B9D2 B9 domain containing 2 gene DOID:9001074 Posterior Leukoencephalopathy Syndrome ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29483653 12362351 B9D2 B9 domain containing 2 gene DOID:9001472 Nasal Polyps ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:12761968|REF_RGD_ID:7394830 12362351 B9D2 B9 domain containing 2 gene DOID:9001472 Nasal Polyps ISO RGD:69095 D RGD:9068941 20200609 RGD associated with Rhinitis PMID:18423831|REF_RGD_ID:4145277 12362351 B9D2 B9 domain containing 2 gene DOID:9001472 Nasal Polyps ISO RGD:69095 D RGD:9068941 20200609 RGD mRNA:decreased expression:nasal cavity epithelium PMID:23406597|REF_RGD_ID:7394852 12362351 B9D2 B9 domain containing 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69051 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:16009107|REF_RGD_ID:1601595 12362351 B9D2 B9 domain containing 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12586293|PMID:15772939|PMID:16579972|PMID:26806094|PMID:27605418 12362351 B9D2 B9 domain containing 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69096 D RGD:9068941 20201023 RGD mRNA:increased expression:liver (mouse) PMID:28465467|REF_RGD_ID:39939037 12362351 B9D2 B9 domain containing 2 gene DOID:9001573 Experimental Liver Cirrhosis onset ISO RGD:69051 D RGD:9068941 20200609 RGD associated with extrahepatic cholestasis PMID:30243650|REF_RGD_ID:14985234 12362351 B9D2 B9 domain containing 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:30092114|REF_RGD_ID:14985231 12362351 B9D2 B9 domain containing 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:27528511|REF_RGD_ID:14995475 12362351 B9D2 B9 domain containing 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:69096 D RGD:9068941 20200609 RGD associated with Chemical and Drug Induced Liver Injury PMID:28390311|REF_RGD_ID:14985232 12362351 B9D2 B9 domain containing 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 12362351 B9D2 B9 domain containing 2 gene DOID:9001600 Wounds and Injuries ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:17117936|REF_RGD_ID:2302090 12362351 B9D2 B9 domain containing 2 gene DOID:9001600 Wounds and Injuries ISO RGD:69051 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:12533868|REF_RGD_ID:2292211 12362351 B9D2 B9 domain containing 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18682491|PMID:19960420 12362351 B9D2 B9 domain containing 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69096 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:19211686|REF_RGD_ID:2306734 12362351 B9D2 B9 domain containing 2 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:69051 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24074026|REF_RGD_ID:7394855 12362351 B9D2 B9 domain containing 2 gene DOID:9002221 Hyperplasia ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20172950 12362351 B9D2 B9 domain containing 2 gene DOID:9002254 Dilatation, Pathologic ISO RGD:69095 D RGD:9068941 20200609 RGD associated with Coronary Arteriosclerosis;protein:increased expression:plasma PMID:17429295|REF_RGD_ID:1601551 12362351 B9D2 B9 domain containing 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15159307|PMID:18082198 12362351 B9D2 B9 domain containing 2 gene DOID:9002350 Hereditary Hemorrhagic Telangiectasia, Type 1 ISO RGD:69095 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:15907823|REF_RGD_ID:11041166 12362351 B9D2 B9 domain containing 2 gene DOID:9002457 Experimental Arthritis ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:29763498|REF_RGD_ID:15036801 12362351 B9D2 B9 domain containing 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:69095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12362351 B9D2 B9 domain containing 2 gene DOID:9002488 Peritoneal Fibrosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199790 12362351 B9D2 B9 domain containing 2 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:28190234|REF_RGD_ID:14985233 12362351 B9D2 B9 domain containing 2 gene DOID:9002498 Wallerian Degeneration ISO RGD:69051 D RGD:9068941 20200609 RGD mRNA:increased expression:optic (II) nerve, sciatic nerve PMID:14997937|REF_RGD_ID:2302105 12362351 B9D2 B9 domain containing 2 gene DOID:9002689 Spontaneous Neoplasm Regression ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11594583 12362351 B9D2 B9 domain containing 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:69051 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:central nervous system PMID:17204936|REF_RGD_ID:2302088 12362351 B9D2 B9 domain containing 2 gene DOID:9003139 Cardiac Fibrosis ISO RGD:69051 D RGD:9068941 20200609 RGD protein:increased expression:heart: PMID:27108788|REF_RGD_ID:11073667 12362351 B9D2 B9 domain containing 2 gene DOID:9003139 Cardiac Fibrosis ISO RGD:69051 D RGD:9068941 20230225 RGD protein:increased expression:blood serum (rat) PMID:27318893|REF_RGD_ID:156430318 12362351 B9D2 B9 domain containing 2 gene DOID:9003139 Cardiac Fibrosis ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:22134166|REF_RGD_ID:11073617 12362351 B9D2 B9 domain containing 2 gene DOID:9003139 Cardiac Fibrosis ameliorates ISO RGD:69096 D RGD:9068941 20230330 RGD PMID:33236535|REF_RGD_ID:242905189 12362351 B9D2 B9 domain containing 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12362351 B9D2 B9 domain containing 2 gene DOID:9003548 Infant, Newborn, Diseases ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29483653 12362351 B9D2 B9 domain containing 2 gene DOID:9003867 Lymphomatoid Papulosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11594583 12362351 B9D2 B9 domain containing 2 gene DOID:9003936 Cardiomegaly ISO RGD:69051 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart PMID:15542404|REF_RGD_ID:1581939 12362351 B9D2 B9 domain containing 2 gene DOID:9004018 Paraquat Lung ISO RGD:69095 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung,serum: PMID:24535699|REF_RGD_ID:11073678 12362351 B9D2 B9 domain containing 2 gene DOID:9004250 Hepatic Insufficiency ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12362351 B9D2 B9 domain containing 2 gene DOID:9004303 Tubulointerstitial Fibrosis ISO RGD:69051 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:15007308|REF_RGD_ID:1304308 12362351 B9D2 B9 domain containing 2 gene DOID:9004303 Tubulointerstitial Fibrosis ameliorates ISO RGD:69051 D RGD:9068941 20210827 RGD PMID:23249995|REF_RGD_ID:13446413 12362351 B9D2 B9 domain containing 2 gene DOID:9004364 Meckel Syndrome 10 ISO RGD:69095 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 10 PMID:16207846|PMID:17293864|PMID:18292811|PMID:18424453|PMID:25741868|PMID:28492532 12362351 B9D2 B9 domain containing 2 gene DOID:9004464 Skin Neoplasms ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8148055 12362351 B9D2 B9 domain containing 2 gene DOID:9004484 Sepsis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16003065 12362351 B9D2 B9 domain containing 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:69095 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:23992306|PMID:24727557|PMID:24793912|PMID:25884904|PMID:26896736|PMID:32745479 12362351 B9D2 B9 domain containing 2 gene DOID:9004610 Acute Lung Injury ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16100012 12362351 B9D2 B9 domain containing 2 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:69096 D RGD:9068941 20201022 RGD PMID:25278421|REF_RGD_ID:39939031 12362351 B9D2 B9 domain containing 2 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10750555 12362351 B9D2 B9 domain containing 2 gene DOID:9005172 Lung Neoplasms ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11074608|PMID:11641043|PMID:17418594 12362351 B9D2 B9 domain containing 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:8466857|REF_RGD_ID:7394797 12362351 B9D2 B9 domain containing 2 gene DOID:9005369 Hepatomegaly ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 12362351 B9D2 B9 domain containing 2 gene DOID:9005372 Inflammation ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19138248|PMID:20172950 12362351 B9D2 B9 domain containing 2 gene DOID:9005463 Occupational Diseases ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 12362351 B9D2 B9 domain containing 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69051 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:15855808|REF_RGD_ID:1601583 12362351 B9D2 B9 domain containing 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17177138|PMID:23090186 12362351 B9D2 B9 domain containing 2 gene DOID:9005729 Chronic Experimental Pancreatitis ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:26645248|REF_RGD_ID:14995470 12362351 B9D2 B9 domain containing 2 gene DOID:9005968 Neuralgia treatment ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:24979268|REF_RGD_ID:11073677 12362351 B9D2 B9 domain containing 2 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:69051 D RGD:9068941 20200609 RGD protein:increased expression:pulmonary artery PMID:17213961|REF_RGD_ID:1601553 12362351 B9D2 B9 domain containing 2 gene DOID:9006392 Anetoderma ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:9274625|REF_RGD_ID:7394827 12362351 B9D2 B9 domain containing 2 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 12362351 B9D2 B9 domain containing 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:69051 D RGD:9068941 20200609 RGD mRNA:increased expression:left heart ventricle PMID:18692559|REF_RGD_ID:2306739 12362351 B9D2 B9 domain containing 2 gene DOID:9007096 Stroke ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 12362351 B9D2 B9 domain containing 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16635409 12362351 B9D2 B9 domain containing 2 gene DOID:9007332 Progressive Diaphyseal Dysplasia 1 ISO RGD:69095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diaphyseal dysplasia 1, progressive PMID:16207846|PMID:17293864|PMID:18292811|PMID:18424453|PMID:25741868|PMID:28492532 12362351 B9D2 B9 domain containing 2 gene DOID:9007346 Cachexia ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:2054795|REF_RGD_ID:7394820 12362351 B9D2 B9 domain containing 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:27516150|REF_RGD_ID:14995464 12362351 B9D2 B9 domain containing 2 gene DOID:9007480 Hyperoxia ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:18353229|REF_RGD_ID:4145291 12362351 B9D2 B9 domain containing 2 gene DOID:9007480 Hyperoxia ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:18245268|REF_RGD_ID:4145293 12362351 B9D2 B9 domain containing 2 gene DOID:9007480 Hyperoxia ISO RGD:69096 D RGD:9068941 20200609 RGD protein:decreased activity:lung PMID:20220550|REF_RGD_ID:4145114 12362351 B9D2 B9 domain containing 2 gene DOID:9007588 Heart Injuries ameliorates ISO RGD:69096 D RGD:9068941 20230330 RGD associated with obesity PMID:32084395|REF_RGD_ID:242905211 12362351 B9D2 B9 domain containing 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20172950 12362351 B9D2 B9 domain containing 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:22913380|REF_RGD_ID:12903950 12362351 B9D2 B9 domain containing 2 gene DOID:9008163 Chronic Hepatitis B ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :869C>T (rs1800470), 11929C>T (rs1800472) (human) PMID:28700046|REF_RGD_ID:14995436 12362351 B9D2 B9 domain containing 2 gene DOID:9008163 Chronic Hepatitis B no_association ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-509C>T (rs1800469) (human) PMID:28700046|REF_RGD_ID:14995436 12362351 B9D2 B9 domain containing 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 12362351 B9D2 B9 domain containing 2 gene DOID:9008510 Chronic Hepatitis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 12362351 B9D2 B9 domain containing 2 gene DOID:9008604 Radiation Pneumonitis ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:18411002|REF_RGD_ID:4145278 12362351 B9D2 B9 domain containing 2 gene DOID:9008604 Radiation Pneumonitis ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:19943923|REF_RGD_ID:4145121 12362351 B9D2 B9 domain containing 2 gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNP:exon:869T>C (rs1982073) (human) PMID:19380441|REF_RGD_ID:4145136 12362351 B9D2 B9 domain containing 2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:69051 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19635314|REF_RGD_ID:4145129 12362351 B9D2 B9 domain containing 2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10646786 12362351 B9D2 B9 domain containing 2 gene DOID:9009237 INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY ISO RGD:69095 D RGD:7240710 20190315 OMIM 12362351 B9D2 B9 domain containing 2 gene DOID:9009237 INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY ISO RGD:69095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease, immunodeficiency, and encephalopathy PMID:16207846|PMID:17293864|PMID:18292811|PMID:18424453|PMID:25741868|PMID:28492532|PMID:29483653 12362351 B9D2 B9 domain containing 2 gene DOID:9256 colorectal cancer ISO RGD:69095 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:12778073|REF_RGD_ID:13432088 12362351 B9D2 B9 domain containing 2 gene DOID:9256 colorectal cancer disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:15057430|REF_RGD_ID:13432086 12362351 B9D2 B9 domain containing 2 gene DOID:9269 maple syrup urine disease ISO RGD:69095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12362351 B9D2 B9 domain containing 2 gene DOID:9351 diabetes mellitus ISO RGD:69095 D RGD:9068941 20220527 RGD associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:increased expression:lung (human) PMID:27411924|REF_RGD_ID:152975631 12362351 B9D2 B9 domain containing 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69051 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart: PMID:24613393|REF_RGD_ID:11073674 12362351 B9D2 B9 domain containing 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23500658 12362351 B9D2 B9 domain containing 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:18646321|REF_RGD_ID:2306740 12362351 B9D2 B9 domain containing 2 gene DOID:936 brain disease ISO RGD:69095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868|PMID:29483653 12362351 B9D2 B9 domain containing 2 gene DOID:9538 multiple myeloma ISO RGD:69095 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:22560388|REF_RGD_ID:11073614 12362351 B9D2 B9 domain containing 2 gene DOID:9538 multiple myeloma disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:hypermethylation:: PMID:23699600|REF_RGD_ID:11073605 12362351 B9D2 B9 domain containing 2 gene DOID:9663 aphthous stomatitis ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-509T>C (human) PMID:27266194|REF_RGD_ID:14975145 12362351 B9D2 B9 domain containing 2 gene DOID:9675 pulmonary emphysema ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12634787 12362351 B9D2 B9 domain containing 2 gene DOID:9675 pulmonary emphysema severity ISO RGD:69095 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive;DNA:SNPs:promoter:rs1800469, rs1982073 (human) PMID:18670143|REF_RGD_ID:4145272 12362351 B9D2 B9 domain containing 2 gene DOID:9743 diabetic neuropathy ISO RGD:69051 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:dorsal root ganglion PMID:18406405|REF_RGD_ID:2302086 12362351 B9D2 B9 domain containing 2 gene DOID:9743 diabetic neuropathy ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16696316 12362351 B9D2 B9 domain containing 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:18979373|REF_RGD_ID:2306737 12362351 B9D2 B9 domain containing 2 gene DOID:9970 obesity ISO RGD:69051 D RGD:9068941 20200609 RGD protein:increased expression:platelet PMID:16477387|REF_RGD_ID:1601561 12362351 B9D2 B9 domain containing 2 gene DOID:9970 obesity ISO RGD:69095 D RGD:9068941 20200609 RGD associated with hypertension;protein:increased expression:blood PMID:15944724|REF_RGD_ID:1601579 12362351 B9D2 B9 domain containing 2 gene DOID:9970 obesity severity ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:adipose tissue PMID:16253647|REF_RGD_ID:1601563 12362351 TGFB1 transforming growth factor beta 1 gene DOID:5082 liver cirrhosis ISO RGD:69095 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:21037076|PMID:35101388|PMID:36368619 12362365 QRICH1 glutamine rich 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12362365 QRICH1 glutamine rich 1 gene DOID:1059 intellectual disability ISO RGD:1606541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild PMID:25741868|PMID:28692176|PMID:33009816|PMID:34859529 12362365 QRICH1 glutamine rich 1 gene DOID:630 genetic disease ISO RGD:1606541 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27694994|PMID:34859529 12362365 QRICH1 glutamine rich 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1606541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12362365 QRICH1 glutamine rich 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1606541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12362365 QRICH1 glutamine rich 1 gene DOID:9009176 VERVERI-BRADY SYNDROME ISO RGD:1606541 D RGD:7240710 20190315 OMIM 12362365 QRICH1 glutamine rich 1 gene DOID:9009176 VERVERI-BRADY SYNDROME ISO RGD:1606541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ververi-Brady syndrome PMID:25741868|PMID:28692176|PMID:30281152|PMID:33009816|PMID:34859529 12362390 CSE1L chromosome segregation 1 like gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:1316788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 PMID:28492532 12362390 CSE1L chromosome segregation 1 like gene DOID:630 genetic disease ISO RGD:1316788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362390 CSE1L chromosome segregation 1 like gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316788 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34022224 12362438 PIK3C2G phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma gene DOID:0070174 spermatogenic failure 17 ISO RGD:735800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 17 PMID:25741868|PMID:26721930|PMID:31463947 12362438 PIK3C2G phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma gene DOID:630 genetic disease ISO RGD:735800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362438 PIK3C2G phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:735800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 12362438 PIK3C2G phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:735800 D RGD:9068941 20200609 RGD DNA:SNP:cds:437C>T(human) PMID:17991425|REF_RGD_ID:13506796 12362475 ZDHHC18 zinc finger DHHC-type palmitoyltransferase 18 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1319625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12362475 ZDHHC18 zinc finger DHHC-type palmitoyltransferase 18 gene DOID:630 genetic disease ISO RGD:1319625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362486 EVA1C eva-1 homolog C gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12362486 EVA1C eva-1 homolog C gene DOID:0060898 Parkinson's disease 20 ISO RGD:1316841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12362486 EVA1C eva-1 homolog C gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12362486 EVA1C eva-1 homolog C gene DOID:630 genetic disease ISO RGD:1316841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362486 EVA1C eva-1 homolog C gene DOID:9005698 ZTTK Syndrome ISO RGD:1316841 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 12362513 CDKL2 cyclin dependent kinase like 2 gene DOID:630 genetic disease ISO RGD:1320063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362513 CDKL2 cyclin dependent kinase like 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 12362513 CDKL2 cyclin dependent kinase like 2 gene DOID:9000918 Disease Progression ISO RGD:1320063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25333262 12362513 CDKL2 cyclin dependent kinase like 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1320063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25333262 12362513 CDKL2 cyclin dependent kinase like 2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1320063 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12362513 CDKL2 cyclin dependent kinase like 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1320063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25333262 12362513 CDKL2 cyclin dependent kinase like 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1320063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25333262 12362532 ARPC2 actin related protein 2/3 complex subunit 2 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1314126 D RGD:9068941 20200609 RGD mRNA:decreased expression:colonic mucosa (human) PMID:25107436|REF_RGD_ID:11049173 12362532 ARPC2 actin related protein 2/3 complex subunit 2 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1314126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12362532 ARPC2 actin related protein 2/3 complex subunit 2 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1314126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12362532 ARPC2 actin related protein 2/3 complex subunit 2 gene DOID:10325 silicosis ISO RGD:1305848 D RGD:9068941 20200609 RGD mRNA:altered expression:lung (rat) PMID:18685790|REF_RGD_ID:4893904 12362532 ARPC2 actin related protein 2/3 complex subunit 2 gene DOID:1909 melanoma ISO RGD:1314126 D RGD:9068941 20200609 RGD protein:increased expression:nevus (human) PMID:19332774|REF_RGD_ID:11049176 12362532 ARPC2 actin related protein 2/3 complex subunit 2 gene DOID:3008 invasive ductal carcinoma ISO RGD:1314126 D RGD:9068941 20200609 RGD protein:increased expression:breast (human) PMID:21136934|REF_RGD_ID:11049179 12362532 ARPC2 actin related protein 2/3 complex subunit 2 gene DOID:418 systemic scleroderma ISO RGD:1314126 D RGD:9068941 20200609 RGD protein:increased expression:saliva (human) PMID:17722226|REF_RGD_ID:11049167 12362532 ARPC2 actin related protein 2/3 complex subunit 2 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1314126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12362532 ARPC2 actin related protein 2/3 complex subunit 2 gene DOID:630 genetic disease ISO RGD:1314126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362532 ARPC2 actin related protein 2/3 complex subunit 2 gene DOID:8577 ulcerative colitis ISO RGD:1314126 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18836448 12362532 ARPC2 actin related protein 2/3 complex subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12362545 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0050549 Saldino-Noonan syndrome ISO RGD:1606227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Saldino-Noonan Syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome Saldino-Noonan type PMID:19442771|PMID:23339108|PMID:23456818|PMID:25741868|PMID:28492532|PMID:29068549 12362545 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:16199547|PMID:17576681|PMID:19361615|PMID:19442771|PMID:21211617|PMID:22499340|PMID:23339108|PMID:23456818|PMID:24033266|PMID:24123776|PMID:24759409|PMID:24781753|PMID:25356970|PMID:25492405|PMID:25741868|PMID:25982780|PMID:26826164|PMID:26938784|PMID:27925158|PMID:28492532|PMID:28832562|PMID:28973083|PMID:29068549|PMID:29096039|PMID:29453417|PMID:29620724|PMID:29947050|PMID:30655312|PMID:30773290|PMID:31413057|PMID:31415973|PMID:31943948|PMID:32494556|PMID:32753734|PMID:33875766|PMID:9536098 12362545 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0080006 bone development disease ISO RGD:1606227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 12362545 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1606227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:19442771|PMID:23339108|PMID:23456818|PMID:25741868|PMID:28492532|PMID:29068549 12362545 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1606227 D RGD:7240710 20180130 OMIM 12362545 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1606227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: DYNC2H1-Related Disorder | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly PMID:16199547|PMID:17576681|PMID:19361615|PMID:19442771|PMID:21211617|PMID:22499340|PMID:23339108|PMID:23456818|PMID:24033266|PMID:24123776|PMID:24759409|PMID:25326635|PMID:25356970|PMID:25741868|PMID:25741887|PMID:25741891|PMID:26826164|PMID:26938784|PMID:27925158|PMID:28492532|PMID:28832562|PMID:28973083|PMID:29068549|PMID:29453417|PMID:29947050|PMID:30655312|PMID:30773290|PMID:31415973|PMID:31943948|PMID:32494556|PMID:32753734|PMID:33532864|PMID:33875766|PMID:9536098 12362545 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1606227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:16199547|PMID:23339108|PMID:25741868|PMID:26938784|PMID:28492532|PMID:29068549|PMID:32753734 12362545 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1606227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:16199547|PMID:23339108|PMID:28492532|PMID:29068549|PMID:32753734 12362545 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1606227 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:28492532 12362545 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1606227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:32753734 12362545 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:1059 intellectual disability ISO RGD:1606227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:22499340|PMID:25741868|PMID:26938784|PMID:28492532|PMID:28832562|PMID:29068549|PMID:29453417 12362545 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1606227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12362545 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:1606227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:25741868|PMID:28492532|PMID:29068549 12362545 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:14679 VACTERL association ISO RGD:735308 D RGD:9068941 20220825 MouseDO OMIM:192350 | OMIM:276950 12362545 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:1682 congenital heart disease ISO RGD:1606227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:29458881|PMID:31680349 12362545 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:630 genetic disease ISO RGD:1606227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19442771|PMID:23339108|PMID:25356970|PMID:25741868|PMID:28492532|PMID:28973083|PMID:9536098 12362545 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1606227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intrauterine growth restriction PMID:19442771|PMID:23339108|PMID:23456818|PMID:25741868|PMID:28492532|PMID:29068549 12362545 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:9005616 Micrognathism ISO RGD:1606227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:25741868 12362545 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:9007073 Cough ISO RGD:1606227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cough PMID:25741868|PMID:28492532|PMID:29068549 12362545 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1606227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 12362545 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 gene DOID:9249 Beemer-Langer syndrome ISO RGD:1606227 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome PMID:25741868|PMID:26826164|PMID:28492532|PMID:29068549 12362638 FBXO39 F-box protein 39 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1322937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12362638 FBXO39 F-box protein 39 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1322937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 12362638 FBXO39 F-box protein 39 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1322937 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12362638 FBXO39 F-box protein 39 gene DOID:12177 common variable immunodeficiency ISO RGD:1322937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12362638 FBXO39 F-box protein 39 gene DOID:2729 dyskeratosis congenita ISO RGD:1322937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12362638 FBXO39 F-box protein 39 gene DOID:630 genetic disease ISO RGD:1322937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362646 OR4K14 olfactory receptor family 4 subfamily K member 14 gene DOID:630 genetic disease ISO RGD:1347325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362650 CLHC1 clathrin heavy chain linker domain containing 1 gene DOID:630 genetic disease ISO RGD:1606727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362676 KCP kielin cysteine rich BMP regulator gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1601689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:28492532 12362676 KCP kielin cysteine rich BMP regulator gene DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 ISO RGD:1601689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F PMID:28492532 12362676 KCP kielin cysteine rich BMP regulator gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12362676 KCP kielin cysteine rich BMP regulator gene DOID:630 genetic disease ISO RGD:1601689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362721 TRA2A transformer 2 alpha homolog gene DOID:37 skin disease ISO RGD:1603645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12362721 TRA2A transformer 2 alpha homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12362721 TRA2A transformer 2 alpha homolog gene DOID:630 genetic disease ISO RGD:1603645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362721 TRA2A transformer 2 alpha homolog gene DOID:9007964 Arsenic Poisoning ISO RGD:1603645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12362742 IP6K1 inositol hexakisphosphate kinase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12362742 IP6K1 inositol hexakisphosphate kinase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12362742 IP6K1 inositol hexakisphosphate kinase 1 gene DOID:630 genetic disease ISO RGD:1343323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362742 IP6K1 inositol hexakisphosphate kinase 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1343323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12362757 OR52X1 olfactory receptor family 52 subfamily X member 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1347388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12362757 OR52X1 olfactory receptor family 52 subfamily X member 1 gene DOID:630 genetic disease ISO RGD:1347388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362760 NRG2 neuregulin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1606028 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12362760 NRG2 neuregulin 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1606028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12362760 NRG2 neuregulin 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606028 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12362760 NRG2 neuregulin 2 gene DOID:630 genetic disease ISO RGD:1606028 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12362760 NRG2 neuregulin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1606028 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 12362760 NRG2 neuregulin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12362760 NRG2 neuregulin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606028 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12362790 SHF Src homology 2 domain containing F gene DOID:0050712 AGAT deficiency ISO RGD:1602197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 12362790 SHF Src homology 2 domain containing F gene DOID:2717 Bloom syndrome ISO RGD:1602197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12362790 SHF Src homology 2 domain containing F gene DOID:630 genetic disease ISO RGD:1602197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362790 SHF Src homology 2 domain containing F gene DOID:9256 colorectal cancer ISO RGD:1602197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12362801 GCNT3 glucosaminyl (N-acetyl) transferase 3, mucin type gene DOID:2717 Bloom syndrome ISO RGD:1344597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12362801 GCNT3 glucosaminyl (N-acetyl) transferase 3, mucin type gene DOID:630 genetic disease ISO RGD:1344597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362801 GCNT3 glucosaminyl (N-acetyl) transferase 3, mucin type gene DOID:9256 colorectal cancer ISO RGD:1344597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12362811 CAMK2G calcium/calmodulin dependent protein kinase II gamma gene DOID:1059 intellectual disability ISO RGD:1604851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23033978|PMID:25741868|PMID:30184290 12362811 CAMK2G calcium/calmodulin dependent protein kinase II gamma gene DOID:12849 autistic disorder ISO RGD:1604851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:23033978|PMID:25741868|PMID:30184290 12362811 CAMK2G calcium/calmodulin dependent protein kinase II gamma gene DOID:3069 malignant astrocytoma disease_progression ISO RGD:1604851 D RGD:9068941 20200609 RGD PMID:12937144|REF_RGD_ID:13702480 12362811 CAMK2G calcium/calmodulin dependent protein kinase II gamma gene DOID:630 genetic disease ISO RGD:1604851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362811 CAMK2G calcium/calmodulin dependent protein kinase II gamma gene DOID:9005810 Autosomal Dominant Intellectual Developmental Disorder 59 ISO RGD:1604851 D RGD:7240710 20200129 OMIM 12362811 CAMK2G calcium/calmodulin dependent protein kinase II gamma gene DOID:9005810 Autosomal Dominant Intellectual Developmental Disorder 59 ISO RGD:1604851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder 59 PMID:23033978|PMID:25741868|PMID:30184290 12362862 WFDC1 WAP four-disulfide core domain 1 gene DOID:0080600 COVID-19 ISO RGD:68974 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12362862 WFDC1 WAP four-disulfide core domain 1 gene DOID:10283 prostate cancer ISO RGD:68974 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:15305342|REF_RGD_ID:2291859 12362862 WFDC1 WAP four-disulfide core domain 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:68974 D RGD:9068941 20200609 RGD protein:decreased expression, increased expression:connective tissue, epithelium PMID:15305341|REF_RGD_ID:2291860 12362862 WFDC1 WAP four-disulfide core domain 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:68974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12362862 WFDC1 WAP four-disulfide core domain 1 gene DOID:1909 melanoma ISO RGD:68974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 12362862 WFDC1 WAP four-disulfide core domain 1 gene DOID:630 genetic disease ISO RGD:68974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362885 STYXL1 serine/threonine/tyrosine interacting like 1 gene DOID:1826 epilepsy ISO RGD:1353281 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12362885 STYXL1 serine/threonine/tyrosine interacting like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12362885 STYXL1 serine/threonine/tyrosine interacting like 1 gene DOID:630 genetic disease ISO RGD:1353281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362885 STYXL1 serine/threonine/tyrosine interacting like 1 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1353281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12362912 MEX3A mex-3 RNA binding family member A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1625811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12362912 MEX3A mex-3 RNA binding family member A gene DOID:0060586 Noonan syndrome 8 ISO RGD:1625811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 12362912 MEX3A mex-3 RNA binding family member A gene DOID:0111940 immunodeficiency 42 ISO RGD:1625811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12362912 MEX3A mex-3 RNA binding family member A gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1625811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12362912 MEX3A mex-3 RNA binding family member A gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1625811 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12362912 MEX3A mex-3 RNA binding family member A gene DOID:1540 parathyroid carcinoma ISO RGD:1625811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12362912 MEX3A mex-3 RNA binding family member A gene DOID:5812 MHC class II deficiency ISO RGD:1625811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12362912 MEX3A mex-3 RNA binding family member A gene DOID:630 genetic disease ISO RGD:1625811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362912 MEX3A mex-3 RNA binding family member A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1625811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12362917 WAS WASP actin nucleation promoting factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12362917 WAS WASP actin nucleation promoting factor gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1349471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12362917 WAS WASP actin nucleation promoting factor gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1349471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12362917 WAS WASP actin nucleation promoting factor gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1349471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12362917 WAS WASP actin nucleation promoting factor gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1349471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12362917 WAS WASP actin nucleation promoting factor gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1349471 D RGD:7240710 20180130 OMIM 12362917 WAS WASP actin nucleation promoting factor gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1349471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10202051|PMID:10447259|PMID:10449748|PMID:10653325|PMID:10691337|PMID:10698340|PMID:10737997|PMID:10909851|PMID:11167787|PMID:11242115|PMID:11298372|PMID:11442475|PMID:11793485|PMID:11877312|PMID:12199801|PMID:12727931|PMID:12969986|PMID:14504083|PMID:15284122|PMID:15469902|PMID:15497008|PMID:16091449|PMID:16199547|PMID:16511828|PMID:16638962|PMID:16804117|PMID:17213309|PMID:17250667|PMID:17400488|PMID:17576681|PMID:17703096|PMID:18162713|PMID:19006568|PMID:19308710|PMID:19328743|PMID:19817875|PMID:19863535|PMID:20173115|PMID:20232122|PMID:20513746|PMID:20546529|PMID:20959042|PMID:21185603|PMID:21710275|PMID:21771083|PMID:22038941|PMID:22229731|PMID:22426750|PMID:22523910|PMID:22679904|PMID:23023736|PMID:23033889|PMID:23160469|PMID:23527602|PMID:23689198|PMID:23807894|PMID:24210885|PMID:24402308|PMID:24728327|PMID:25091438|PMID:25332606|PMID:25476427|PMID:25741868|PMID:25792466|PMID:25862925|PMID:25931402|PMID:26261240|PMID:26368308|PMID:26502776|PMID:27566838|PMID:28492532|PMID:28600779|PMID:28623282|PMID:28641574|PMID:28748566|PMID:28901403|PMID:28956125|PMID:29078804|PMID:29896746|PMID:29991546|PMID:30549999|PMID:30697212|PMID:30981783|PMID:31064749|PMID:31352750|PMID:31354712|PMID:31965297|PMID:32097281|PMID:3284030|PMID:33225392|PMID:34355501|PMID:35729272|PMID:7579329|PMID:7579347|PMID:7753869|PMID:8069912|PMID:8528198|PMID:8528199|PMID:8530058|PMID:8595430|PMID:8666397|PMID:8682510|PMID:8743175|PMID:8757562|PMID:8757563|PMID:8931701|PMID:9126958|PMID:9326235|PMID:9476131|PMID:9536098 12362917 WAS WASP actin nucleation promoting factor gene DOID:12155 lymphocytic choriomeningitis ISO RGD:1558289 D RGD:9068941 20200917 RGD PMID:23141740|REF_RGD_ID:38676258 12362917 WAS WASP actin nucleation promoting factor gene DOID:12849 autistic disorder ISO RGD:1349471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12362917 WAS WASP actin nucleation promoting factor gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1349471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16783379|PMID:22706301|PMID:23704091|PMID:24453067|PMID:28492532 12362917 WAS WASP actin nucleation promoting factor gene DOID:1588 thrombocytopenia ISO RGD:1349471 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:11167787|PMID:12969986|PMID:15284122|PMID:19817875|PMID:20546529|PMID:21185603|PMID:23160469|PMID:25741868|PMID:27885891|PMID:28492532|PMID:28641574|PMID:31064749|PMID:7753869|PMID:8666397|PMID:8757563|PMID:9326235 12362917 WAS WASP actin nucleation promoting factor gene DOID:2213 hemorrhagic disease ISO RGD:1349471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 12362917 WAS WASP actin nucleation promoting factor gene DOID:2986 IgA glomerulonephritis ISO RGD:1558289 D RGD:9068941 20220825 MouseDO OMIM:161950 | OMIM:616818 12362917 WAS WASP actin nucleation promoting factor gene DOID:3298 vaccinia severity ISO RGD:1558289 D RGD:9068941 20200917 RGD PMID:15681416|REF_RGD_ID:38599240 12362917 WAS WASP actin nucleation promoting factor gene DOID:630 genetic disease ISO RGD:1349471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12362917 WAS WASP actin nucleation promoting factor gene DOID:9000557 Thrombocytopenia 1 ISO RGD:1349471 D RGD:7240710 20180130 OMIM 12362917 WAS WASP actin nucleation promoting factor gene DOID:9000557 Thrombocytopenia 1 ISO RGD:1349471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 1 PMID:10447259|PMID:10575547|PMID:11167787|PMID:11442475|PMID:11793485|PMID:12199801|PMID:12591280|PMID:12727931|PMID:12969986|PMID:14504083|PMID:14612666|PMID:15284122|PMID:16199547|PMID:16562789|PMID:17400488|PMID:17576681|PMID:17703096|PMID:19308710|PMID:19817875|PMID:19863535|PMID:20173115|PMID:20232122|PMID:20546529|PMID:21185603|PMID:22038941|PMID:23023736|PMID:23160469|PMID:24210885|PMID:24728327|PMID:25091438|PMID:25741868|PMID:26261240|PMID:28492532|PMID:28641574|PMID:31064749|PMID:31965297|PMID:33225392|PMID:7579329|PMID:7753869|PMID:7795648|PMID:8528198|PMID:8595430|PMID:8666397|PMID:8682510|PMID:8757563|PMID:8931701|PMID:9126958|PMID:9326235|PMID:9536098 12362917 WAS WASP actin nucleation promoting factor gene DOID:9005525 X-Linked Thrombocytopenia, Intermittent ISO RGD:1349471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia, X-linked, intermittent PMID:11877312 12362917 WAS WASP actin nucleation promoting factor gene DOID:9006262 Cytomegalovirus Infections severity ISO RGD:1558289 D RGD:9068941 20200917 RGD PMID:30981413|REF_RGD_ID:38676256 12362917 WAS WASP actin nucleation promoting factor gene DOID:9169 Wiskott-Aldrich syndrome ISO RGD:1349471 D RGD:7240710 20180130 OMIM 12362917 WAS WASP actin nucleation promoting factor gene DOID:9169 Wiskott-Aldrich syndrome ISO RGD:1349471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Wiskott-Aldrich syndrome | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome, attenuated PMID:10202051|PMID:10447259|PMID:10449748|PMID:10653325|PMID:10691337|PMID:10737997|PMID:11242115|PMID:11298372|PMID:11442475|PMID:11793485|PMID:12073025|PMID:12199801|PMID:12351383|PMID:12437929|PMID:12727931|PMID:12969986|PMID:14504083|PMID:14566484|PMID:14612666|PMID:15284122|PMID:15497008|PMID:16091449|PMID:16199547|PMID:16511828|PMID:16638962|PMID:17065640|PMID:17213309|PMID:17250667|PMID:17390083|PMID:17400488|PMID:17576681|PMID:17703096|PMID:18162713|PMID:19308710|PMID:19817875|PMID:19863535|PMID:20173115|PMID:20232122|PMID:20513746|PMID:20546529|PMID:20959042|PMID:21185603|PMID:21710275|PMID:21771083|PMID:22038941|PMID:22426750|PMID:22523910|PMID:22679904|PMID:23023736|PMID:23033889|PMID:23527602|PMID:23689198|PMID:24210885|PMID:24728327|PMID:25091438|PMID:25332606|PMID:25741868|PMID:25792466|PMID:25931402|PMID:27885891|PMID:27993330|PMID:28492532|PMID:2906042|PMID:30981783|PMID:31965297|PMID:33225392|PMID:34355501|PMID:35729272|PMID:7579329|PMID:7579347|PMID:7735919|PMID:7753869|PMID:7795648|PMID:8069912|PMID:8528198|PMID:8528199|PMID:8595430|PMID:8673127|PMID:8682510|PMID:8743175|PMID:8931701|PMID:9126958|PMID:9326235|PMID:9536098|PMID:9657775 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:0050073 invasive aspergillosis ISO RGD:1350447 D RGD:9068941 20200609 RGD PMID:17298426|REF_RGD_ID:5135501 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:18798077|REF_RGD_ID:8551819 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:0081267 graft-versus-host disease ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:19218194|REF_RGD_ID:5135435 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:1205 allergic disease ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:18624292|REF_RGD_ID:5135483 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:12849 autistic disorder ISO RGD:1350447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:621528 D RGD:9068941 20200609 RGD PMID:15322218|REF_RGD_ID:1598502 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1350447 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion, T cell PMID:9834133|REF_RGD_ID:5135492 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:14004 thoracic aortic aneurysm severity ISO RGD:1350447 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:16014397|REF_RGD_ID:5135442 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:1485 cystic fibrosis ISO RGD:1350447 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion, neutrophil PMID:19017998|REF_RGD_ID:4145632 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:1532 pleural disease ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21357438 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:1591 renovascular hypertension ISO RGD:621528 D RGD:9068941 20200609 RGD PMID:17062848|REF_RGD_ID:2311383 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:2773 contact dermatitis ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:2799 bronchiolitis obliterans ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:12097412|PMID:16709871|REF_RGD_ID:5135441|REF_RGD_ID:5135451 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:2841 asthma ISO RGD:1350447 D RGD:9068941 20200609 RGD protein:decreased expression:respiratory system fluid/secretion, T cell PMID:17641057|REF_RGD_ID:5135484 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:2841 asthma ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:18094012|REF_RGD_ID:4892088 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:2841 asthma severity ISO RGD:1350447 D RGD:9068941 20200609 RGD PMID:16548899|REF_RGD_ID:5143932 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:2841 asthma susceptibility ISO RGD:1350447 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS1+234G>A (human) PMID:16043121|REF_RGD_ID:5143934 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:2921 glomerulonephritis ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12517959 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:2945 severe acute respiratory syndrome ISO RGD:733057 D RGD:9068941 20200619 RGD mRNA:altered expression:lung (mouse) PMID:15356152|REF_RGD_ID:30309221 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:3070 high grade glioma ISO RGD:621528 D RGD:9068941 20200609 RGD PMID:16434036|REF_RGD_ID:5135509 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1350447 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion, neutrophil PMID:19017998|REF_RGD_ID:4145632 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:1350447 D RGD:9068941 20200609 RGD PMID:19218194|REF_RGD_ID:5135435 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:326 ischemia ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12517959 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:3310 atopic dermatitis ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:3525 middle cerebral artery infarction ISO RGD:621528 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:10825390|REF_RGD_ID:632989 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:3770 pulmonary fibrosis ISO RGD:733057 D RGD:9068941 20200609 RGD associated with Lung Injury PMID:15254596|REF_RGD_ID:5135446 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:417 autoimmune disease ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12517959 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:418 systemic scleroderma ISO RGD:1350447 D RGD:9068941 20200609 RGD protein:decreased expression:skin, endothelial cell PMID:21303517|REF_RGD_ID:5135279 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:4247 coronary restenosis ISO RGD:1350447 D RGD:9068941 20200609 RGD PMID:14578618|REF_RGD_ID:1598500 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:437 myasthenia gravis ISO RGD:1350447 D RGD:9068941 20200609 RGD PMID:15843529|REF_RGD_ID:1598501 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:552 pneumonia ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:552 pneumonia ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:15265940|REF_RGD_ID:5135445 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:552 pneumonia ISO RGD:733057 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;mRNA:increased expression:lung PMID:14979941|REF_RGD_ID:5135491 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:630 genetic disease ISO RGD:1350447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1350447 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid, neutrophil PMID:19017998|REF_RGD_ID:4145632 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:820 myocarditis ISO RGD:621528 D RGD:9068941 20200609 RGD PMID:15322218|REF_RGD_ID:1598502 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1350447 D RGD:9068941 20200609 RGD PMID:19842835|REF_RGD_ID:4145620 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:841 extrinsic allergic alveolitis ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:14991597|REF_RGD_ID:5135448 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:8577 ulcerative colitis ISO RGD:1350447 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood immature plasma cells PMID:21087446|REF_RGD_ID:6480657 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:874 bacterial pneumonia ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:15618188|REF_RGD_ID:5135459 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:9000310 Lung Injury ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:17086735|REF_RGD_ID:5135486 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733057 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:16885372|REF_RGD_ID:5135487 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:621528 D RGD:9068941 20200609 RGD PMID:15884054|REF_RGD_ID:5143937 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:621528 D RGD:9068941 20200609 RGD PMID:21038468|REF_RGD_ID:5135506 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:621528 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:17549754|REF_RGD_ID:2311381 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:9004009 Reperfusion Injury ISO RGD:621528 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:18589091|REF_RGD_ID:2311376 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:9005372 Inflammation ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12517959 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1350447 D RGD:9068941 20200609 RGD PMID:20561238|REF_RGD_ID:5135493 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:9007096 Stroke ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:621528 D RGD:9068941 20200609 RGD PMID:15843529|PMID:19232748|REF_RGD_ID:1598501|REF_RGD_ID:2311364 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:9008680 Respiratory Tract Infections ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:19039768|REF_RGD_ID:4892119 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:9675 pulmonary emphysema ISO RGD:1350447 D RGD:9068941 20200609 RGD PMID:15526056|REF_RGD_ID:4892104 12362937 CXCR3 C-X-C motif chemokine receptor 3 gene DOID:986 alopecia areata ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22358057 12362942 CARD9 caspase recruitment domain family member 9 gene DOID:0050589 inflammatory bowel disease ISO RGD:732385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983784 12362942 CARD9 caspase recruitment domain family member 9 gene DOID:0050777 Joubert syndrome ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12362942 CARD9 caspase recruitment domain family member 9 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12362942 CARD9 caspase recruitment domain family member 9 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:732385 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12362942 CARD9 caspase recruitment domain family member 9 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:732385 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12362942 CARD9 caspase recruitment domain family member 9 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12362942 CARD9 caspase recruitment domain family member 9 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:732385 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12362942 CARD9 caspase recruitment domain family member 9 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:732385 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12362942 CARD9 caspase recruitment domain family member 9 gene DOID:0081097 Rafiq syndrome ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12362942 CARD9 caspase recruitment domain family member 9 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12362942 CARD9 caspase recruitment domain family member 9 gene DOID:2986 IgA glomerulonephritis ISO RGD:732385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25305756 12362942 CARD9 caspase recruitment domain family member 9 gene DOID:3652 Leigh disease ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12362942 CARD9 caspase recruitment domain family member 9 gene DOID:612 primary immunodeficiency disease ISO RGD:732385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12362942 CARD9 caspase recruitment domain family member 9 gene DOID:630 genetic disease ISO RGD:732385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12362942 CARD9 caspase recruitment domain family member 9 gene DOID:7147 ankylosing spondylitis ISO RGD:732385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743469 12362942 CARD9 caspase recruitment domain family member 9 gene DOID:8577 ulcerative colitis ISO RGD:732385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 12362942 CARD9 caspase recruitment domain family member 9 gene DOID:9005249 Immunodeficiency 103 ISO RGD:732385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS PMID:16199547|PMID:17576681|PMID:19864672|PMID:21983784|PMID:22730530|PMID:23335372|PMID:24033266|PMID:24068945|PMID:24131138|PMID:24231284|PMID:24704721|PMID:25702837|PMID:25731871|PMID:25741868|PMID:25933095|PMID:26038974|PMID:26521038|PMID:26679537|PMID:26961233|PMID:27490946|PMID:27777981|PMID:28252032|PMID:28492532|PMID:28842327|PMID:29080677|PMID:29307770|PMID:29890237|PMID:30136218|PMID:30429846|PMID:30537277|PMID:30809743|PMID:30837984|PMID:31102464|PMID:31414217|PMID:31469433|PMID:32888943|PMID:33414972|PMID:33558980|PMID:33872781|PMID:34234782|PMID:35628702|PMID:9536098|PMID:9835960 12362942 CARD9 caspase recruitment domain family member 9 gene DOID:9005249 Immunodeficiency 103 susceptibility ISO RGD:732385 D RGD:7240710 20220629 OMIM 12362942 CARD9 caspase recruitment domain family member 9 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 12362966 DZANK1 double zinc ribbon and ankyrin repeat domains 1 gene DOID:630 genetic disease ISO RGD:1322749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363026 TICRR TOPBP1 interacting checkpoint and replication regulator gene DOID:0080600 COVID-19 ISO RGD:1602448 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12363026 TICRR TOPBP1 interacting checkpoint and replication regulator gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1602448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12363026 TICRR TOPBP1 interacting checkpoint and replication regulator gene DOID:2717 Bloom syndrome ISO RGD:1602448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12363026 TICRR TOPBP1 interacting checkpoint and replication regulator gene DOID:630 genetic disease ISO RGD:1602448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363026 TICRR TOPBP1 interacting checkpoint and replication regulator gene DOID:684 hepatocellular carcinoma ISO RGD:1602448 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12363026 TICRR TOPBP1 interacting checkpoint and replication regulator gene DOID:9250 acrocallosal syndrome ISO RGD:1602448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome 12363026 TICRR TOPBP1 interacting checkpoint and replication regulator gene DOID:9256 colorectal cancer ISO RGD:1602448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12363054 SAP18 Sin3A associated protein 18 gene DOID:630 genetic disease ISO RGD:1321265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:736158 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14555548|REF_RGD_ID:5144236 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:0050256 angiostrongyliasis ISO RGD:736159 D RGD:9068941 20201105 RGD mRNA:increased expression:brain: PMID:23148283|REF_RGD_ID:40400713 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:0050256 angiostrongyliasis treatment ISO RGD:736159 D RGD:9068941 20201030 RGD PMID:24657070|REF_RGD_ID:11561855 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:736158 D RGD:9068941 20201016 RGD PMID:25193287|REF_RGD_ID:39938972 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736158 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:0060180 colitis severity ISO RGD:736159 D RGD:9068941 20201030 RGD PMID:23172891|REF_RGD_ID:40400694 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:0060496 respiratory allergy ISO RGD:736159 D RGD:9068941 20201016 RGD associated with Fungal Lung Diseases PMID:25746970|REF_RGD_ID:39938968 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:0080685 aortic dissection ISO RGD:736158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:34409081 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:736159 D RGD:9068941 20201030 RGD associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen, liver: PMID:26518437|REF_RGD_ID:11343232 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 treatment ISO RGD:736159 D RGD:9068941 20201030 RGD associated with lymphocytic choriomeningitis PMID:26518437|REF_RGD_ID:11343232 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:1080 filariasis ISO RGD:736159 D RGD:9068941 20201105 RGD PMID:27592711|REF_RGD_ID:40400889 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:11166 papillomavirus infectious disease ISO RGD:736158 D RGD:9068941 20201015 RGD PMID:30935248|REF_RGD_ID:39938848 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome severity ISO RGD:736158 D RGD:9068941 20201105 RGD PMID:25658420|REF_RGD_ID:40400702 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:12155 lymphocytic choriomeningitis severity ISO RGD:736159 D RGD:9068941 20201105 RGD PMID:25829541|REF_RGD_ID:40400708 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:12205 dengue disease treatment ISO RGD:736159 D RGD:9068941 20201015 RGD PMID:30098206|REF_RGD_ID:39938828 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:12365 malaria ISO RGD:736159 D RGD:9068941 20201015 RGD PMID:28359899|REF_RGD_ID:39938859 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:12554 hemolytic-uremic syndrome severity ISO RGD:736158 D RGD:9068941 20201015 RGD associated with Escherichia Coli Infections; PMID:30467800|REF_RGD_ID:39458200 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:12662 paracoccidioidomycosis treatment ISO RGD:736158 D RGD:9068941 20201015 RGD PMID:28992214|REF_RGD_ID:39938858 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:736159 D RGD:9068941 20200609 RGD PMID:11283151|REF_RGD_ID:5144238 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:14069 cerebral malaria treatment ISO RGD:736159 D RGD:9068941 20201105 RGD PMID:25682948|REF_RGD_ID:40400741 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:2841 asthma ISO RGD:736158 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198610|PMID:21150878|PMID:21804549|PMID:24241537|PMID:27472835 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:2841 asthma ISO RGD:736158 D RGD:9068941 20200609 RGD DNA:SNP: :rs10197862 (human) PMID:21150878|REF_RGD_ID:5144240 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:2841 asthma ISO RGD:736158 D RGD:9068941 20200609 RGD DNA:SNP: :rs1420101 (human) PMID:19198610|REF_RGD_ID:5144243 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:2841 asthma ISO RGD:736158 D RGD:9068941 20200609 RGD DNA:SNPs:intron:rs1420089, rs1861245,rs1946131 (human) PMID:19852851|REF_RGD_ID:5144242 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:2841 asthma ISO RGD:736159 D RGD:9068941 20200609 RGD PMID:17407196|PMID:19179489|REF_RGD_ID:5144244|REF_RGD_ID:5144245 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:2841 asthma ISO RGD:736159 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17623648|REF_RGD_ID:5144235 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:2841 asthma severity ISO RGD:736158 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11463601|REF_RGD_ID:5144237 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:2841 asthma susceptibility ISO RGD:736158 D RGD:9068941 20200609 RGD DNA:SNP: :rs1041973 (human) PMID:21281963|REF_RGD_ID:5144239 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:736159 D RGD:9068941 20201016 RGD PMID:28128217|REF_RGD_ID:39938965 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736158 D RGD:9068941 20200609 RGD PMID:19927353|REF_RGD_ID:5144227 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736159 D RGD:9068941 20201105 RGD mRNA:increased expression:lung: PMID:30952808|REF_RGD_ID:40400740 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:3393 coronary artery disease severity ISO RGD:736158 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-27307T>A, -27614C>A (human) PMID:20602249|REF_RGD_ID:5144241 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:4483 rhinitis severity ISO RGD:736158 D RGD:9068941 20200609 RGD associated with Sinusitis;DNA:SNPs: :multiple (human) PMID:19671251|REF_RGD_ID:5144228 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:5082 liver cirrhosis severity ISO RGD:736159 D RGD:9068941 20201015 RGD associated with Schistosomiasis Japonica PMID:31200771|REF_RGD_ID:39938956 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:630 genetic disease ISO RGD:736158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:646 viral encephalitis ISO RGD:736159 D RGD:9068941 20201008 RGD mRNA:increased expression:brain PMID:27334012|REF_RGD_ID:39457934 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:646 viral encephalitis severity ISO RGD:736159 D RGD:9068941 20201008 RGD PMID:27334012|REF_RGD_ID:39457934 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:874 bacterial pneumonia ISO RGD:736159 D RGD:9068941 20200609 RGD associated with Sepsis PMID:20959556|REF_RGD_ID:5144223 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:874 bacterial pneumonia treatment ISO RGD:2894 D RGD:9068941 20201112 RGD associated with Acinetobacter infectious disease PMID:29508184|REF_RGD_ID:40818077 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:9000238 Acute-On-Chronic Liver Failure disease_progression ISO RGD:736158 D RGD:9068941 20201015 RGD associated with hepatitis B; PMID:28381383|REF_RGD_ID:39938857 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:9000590 Dyspnea disease_progression ISO RGD:736158 D RGD:9068941 20200609 RGD PMID:20804518|REF_RGD_ID:5144224 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:736158 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32777237 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:9001004 Chronic Periodontitis ISO RGD:736158 D RGD:9068941 20201015 RGD mRNA:increased expression:gingiva PMID:25808546|REF_RGD_ID:39938855 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:9002457 Experimental Arthritis ISO RGD:736158 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20472598 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:9002992 Nematode Infections severity ISO RGD:736159 D RGD:9068941 20201030 RGD PMID:27697499|REF_RGD_ID:40400689 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:9003870 Herpes Simplex Encephalitis severity ISO RGD:736159 D RGD:9068941 20201022 RGD PMID:26872602|REF_RGD_ID:39939003 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:9003936 Cardiomegaly severity ISO RGD:736159 D RGD:9068941 20201112 RGD PMID:17492053|REF_RGD_ID:40813740 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:9004484 Sepsis severity ISO RGD:736159 D RGD:9068941 20201016 RGD PMID:30001716|REF_RGD_ID:39938964 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:9004610 Acute Lung Injury ISO RGD:736158 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21352201 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:9004610 Acute Lung Injury ISO RGD:736159 D RGD:9068941 20200609 RGD PMID:21352201|REF_RGD_ID:5144222 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:2894 D RGD:9068941 20201105 RGD protein:increased expression:spinal cord: PMID:29329586|REF_RGD_ID:40400909 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:736159 D RGD:9068941 20201105 RGD PMID:25926677|REF_RGD_ID:40400705 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:9006535 Hookworm Infections ISO RGD:736159 D RGD:9068941 20201015 RGD PMID:22329990|REF_RGD_ID:39938827 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:736158 D RGD:9068941 20201015 RGD protein:increased expression:serum: PMID:28381383|REF_RGD_ID:39938857 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:736158 D RGD:9068941 20201008 RGD PMID:27180842|REF_RGD_ID:39457933 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:9408 acute myocardial infarction ISO RGD:2894 D RGD:9068941 20201112 RGD PMID:24837094|REF_RGD_ID:40813741 12363067 IL1RL1 interleukin 1 receptor like 1 gene DOID:9675 pulmonary emphysema treatment ISO RGD:736159 D RGD:9068941 20201105 RGD associated with common cold; PMID:30952808|REF_RGD_ID:40400740 12363085 UQCR11 ubiquinol-cytochrome c reductase, complex III subunit XI gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1348323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 12363085 UQCR11 ubiquinol-cytochrome c reductase, complex III subunit XI gene DOID:0060071 pre-malignant neoplasm ISO RGD:1348323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12363085 UQCR11 ubiquinol-cytochrome c reductase, complex III subunit XI gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1348323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12363085 UQCR11 ubiquinol-cytochrome c reductase, complex III subunit XI gene DOID:5339 cyclic hematopoiesis ISO RGD:1348323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12363085 UQCR11 ubiquinol-cytochrome c reductase, complex III subunit XI gene DOID:630 genetic disease ISO RGD:1348323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363085 UQCR11 ubiquinol-cytochrome c reductase, complex III subunit XI gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12363092 GYPA glycophorin A (MNS blood group) gene DOID:12365 malaria ISO RGD:1342753 D RGD:7240710 20230505 OMIM 12363092 GYPA glycophorin A (MNS blood group) gene DOID:630 genetic disease ISO RGD:1342753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363092 GYPA glycophorin A (MNS blood group) gene DOID:9004464 Skin Neoplasms ISO RGD:1342753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17029826 12363114 SLX4IP SLX4 interacting protein gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1352856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 12363114 SLX4IP SLX4 interacting protein gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1352856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 12363114 SLX4IP SLX4 interacting protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12363114 SLX4IP SLX4 interacting protein gene DOID:630 genetic disease ISO RGD:1352856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363114 SLX4IP SLX4 interacting protein gene DOID:9245 Alagille syndrome ISO RGD:1352856 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:10213047|PMID:16575836|PMID:19058200|PMID:22382802|PMID:28492532|PMID:32733715 12363148 ABT1 activator of basal transcription 1 gene DOID:630 genetic disease ISO RGD:1321888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363148 ABT1 activator of basal transcription 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1321888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12363148 ABT1 activator of basal transcription 1 gene DOID:9000918 Disease Progression ISO RGD:1321888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12363155 ZSCAN29 zinc finger and SCAN domain containing 29 gene DOID:2717 Bloom syndrome ISO RGD:1605867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12363155 ZSCAN29 zinc finger and SCAN domain containing 29 gene DOID:630 genetic disease ISO RGD:1605867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363155 ZSCAN29 zinc finger and SCAN domain containing 29 gene DOID:9256 colorectal cancer ISO RGD:1605867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12363226 LEPR leptin receptor gene DOID:0050700 cardiomyopathy ISO RGD:735832 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33345901 12363226 LEPR leptin receptor gene DOID:0050847 sleep apnea ISO RGD:735832 D RGD:9068941 20200609 RGD PMID:11896492|REF_RGD_ID:5128873 12363226 LEPR leptin receptor gene DOID:0050848 obstructive sleep apnea susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.Q223R (human) PMID:18204169|REF_RGD_ID:5128855 12363226 LEPR leptin receptor gene DOID:0050855 renal fibrosis disease_progression ISO RGD:3001 D RGD:9068941 20200709 RGD PMID:27465994|REF_RGD_ID:12911217 12363226 LEPR leptin receptor gene DOID:0080001 bone disease ISO RGD:735832 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:28130181 12363226 LEPR leptin receptor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:10865 D RGD:9068941 20220825 MouseDO OMIM:613282 | OMIM:613387 12363226 LEPR leptin receptor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:intron:c.2673+1118C>T (rs6700896) (human) PMID:22215535|REF_RGD_ID:14696694 12363226 LEPR leptin receptor gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.Q223R(human) PMID:27257426|REF_RGD_ID:21079462 12363226 LEPR leptin receptor gene DOID:0080547 non-alcoholic steatohepatitis susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:SNPs: : (rs1137100, rs1137101) (human) PMID:23278404|REF_RGD_ID:14696696 12363226 LEPR leptin receptor gene DOID:1059 intellectual disability ISO RGD:735832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12363226 LEPR leptin receptor gene DOID:10591 pre-eclampsia ISO RGD:3001 D RGD:9068941 20200609 RGD protein:increased expression:placenta PMID:16021089|REF_RGD_ID:5128718 12363226 LEPR leptin receptor gene DOID:10603 glucose intolerance ISO RGD:3001 D RGD:9068941 20200609 RGD PMID:26537785|PMID:27465994|REF_RGD_ID:12911216|REF_RGD_ID:12911217 12363226 LEPR leptin receptor gene DOID:10603 glucose intolerance ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19452630|PMID:25367288|PMID:28611668|PMID:29988851 12363226 LEPR leptin receptor gene DOID:10605 short bowel syndrome ISO RGD:3001 D RGD:9068941 20200609 RGD mRNA:increased expression:small intestine PMID:19730157|REF_RGD_ID:5128624 12363226 LEPR leptin receptor gene DOID:1074 kidney failure ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29988851 12363226 LEPR leptin receptor gene DOID:10763 hypertension ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22949526 12363226 LEPR leptin receptor gene DOID:10763 hypertension ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:polymorphisms:exons PMID:10999797|REF_RGD_ID:5129161 12363226 LEPR leptin receptor gene DOID:10763 hypertension disease_progression ISO RGD:3001 D RGD:9068941 20201211 RGD PMID:27465994|REF_RGD_ID:12911217 12363226 LEPR leptin receptor gene DOID:10952 nephritis ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29988851 12363226 LEPR leptin receptor gene DOID:11476 osteoporosis susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:missense mutations:CDS:p.K109R, Q223R (human) PMID:23460508|REF_RGD_ID:10411886 12363226 LEPR leptin receptor gene DOID:1168 familial hyperlipidemia ISO RGD:735832 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:25222487|PMID:33345901 12363226 LEPR leptin receptor gene DOID:11714 gestational diabetes ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20421132 12363226 LEPR leptin receptor gene DOID:11981 morbid obesity ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9537324 12363226 LEPR leptin receptor gene DOID:12236 primary biliary cholangitis ISO RGD:735832 D RGD:9068941 20200609 RGD protein:increased expression:blood serum PMID:16093869|REF_RGD_ID:10411894 12363226 LEPR leptin receptor gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:missense mutation:CDS:p.Q223R (human) PMID:19337797|REF_RGD_ID:2311129 12363226 LEPR leptin receptor gene DOID:1924 hypogonadism ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17229951 12363226 LEPR leptin receptor gene DOID:2018 hyperinsulinism ISO RGD:3001 D RGD:9068941 20200609 RGD PMID:26537785|REF_RGD_ID:12911216 12363226 LEPR leptin receptor gene DOID:2018 hyperinsulinism ISO RGD:735832 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:15093691|PMID:22949526|PMID:24384915|PMID:25222487|PMID:29988851|PMID:30689673|PMID:33345901|PMID:3519326 12363226 LEPR leptin receptor gene DOID:2349 arteriosclerosis ISO RGD:735832 D RGD:9068941 20200609 RGD PMID:11460888|REF_RGD_ID:1581846 12363226 LEPR leptin receptor gene DOID:26 pancreas disease ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3519326 12363226 LEPR leptin receptor gene DOID:2999 granulosa cell tumor ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28861689 12363226 LEPR leptin receptor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735832 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:19196818|REF_RGD_ID:5128813 12363226 LEPR leptin receptor gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:19196818|REF_RGD_ID:5128813 12363226 LEPR leptin receptor gene DOID:3393 coronary artery disease susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:missense mutation:CDS:p.Q223R (human) PMID:27257426|REF_RGD_ID:21079462 12363226 LEPR leptin receptor gene DOID:3770 pulmonary fibrosis ISO RGD:10865 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:21317313|REF_RGD_ID:5128773 12363226 LEPR leptin receptor gene DOID:4195 hyperglycemia ISO RGD:3001 D RGD:9068941 20200609 RGD PMID:26537785|REF_RGD_ID:12911216 12363226 LEPR leptin receptor gene DOID:4195 hyperglycemia ISO RGD:735832 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:15093691|PMID:17065336|PMID:19682441|PMID:20567778|PMID:24384915|PMID:28130181|PMID:29143802|PMID:29743445|PMID:29988851|PMID:29991592|PMID:30635400|PMID:33345901|PMID:3519326|PMID:35235096 12363226 LEPR leptin receptor gene DOID:4989 pancreatitis ISO RGD:3001 D RGD:9068941 20200609 RGD DNA:missense mutation:CDS:p.Q269P (rat) PMID:21836382|REF_RGD_ID:10412020 12363226 LEPR leptin receptor gene DOID:5016 hepatocellular clear cell carcinoma ISO RGD:735832 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:20723213|REF_RGD_ID:14696785 12363226 LEPR leptin receptor gene DOID:5223 infertility ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15093691 12363226 LEPR leptin receptor gene DOID:5223 infertility treatment ISO RGD:10865 D RGD:9068941 20200609 RGD PMID:16284652|REF_RGD_ID:10412018 12363226 LEPR leptin receptor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735832 D RGD:9068941 20200609 RGD protein:increased phosphorylation:peripheral blood mononuclear cell PMID:12100031|REF_RGD_ID:21079471 12363226 LEPR leptin receptor gene DOID:53 pituitary gland disease ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9537324 12363226 LEPR leptin receptor gene DOID:5426 primary ovarian insufficiency ISO RGD:735832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12363226 LEPR leptin receptor gene DOID:557 kidney disease ISO RGD:735832 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:20567778|PMID:33345901 12363226 LEPR leptin receptor gene DOID:576 proteinuria ISO RGD:3001 D RGD:9068941 20201211 RGD compared to SS/JrHsdMcwi PMID:27465994|REF_RGD_ID:12911217 12363226 LEPR leptin receptor gene DOID:576 proteinuria sexual_dimorphism ISO RGD:3001 D RGD:9068941 20201211 RGD compared to BN PMID:20159938|REF_RGD_ID:7365117 12363226 LEPR leptin receptor gene DOID:6000 congestive heart failure ISO RGD:10865 D RGD:9068941 20200609 RGD protein:increased phosphorylation:heart PMID:18006469|REF_RGD_ID:5128823 12363226 LEPR leptin receptor gene DOID:612 primary immunodeficiency disease ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17229951 12363226 LEPR leptin receptor gene DOID:630 genetic disease ISO RGD:735832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12363226 LEPR leptin receptor gene DOID:6432 pulmonary hypertension ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30689673 12363226 LEPR leptin receptor gene DOID:655 inherited metabolic disorder ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17229951 12363226 LEPR leptin receptor gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic;DNA:missense mutations:cds:p.Q223R, p.K109R (human) PMID:23090836|REF_RGD_ID:21079466 12363226 LEPR leptin receptor gene DOID:784 chronic kidney disease ISO RGD:3001 D RGD:9068941 20201211 RGD PMID:27465994|PMID:32390513|REF_RGD_ID:12911217|REF_RGD_ID:34888223 12363226 LEPR leptin receptor gene DOID:9000784 Fibrosis ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20567778|PMID:29988851 12363226 LEPR leptin receptor gene DOID:9001239 Delayed Puberty ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17229951 12363226 LEPR leptin receptor gene DOID:9001472 Nasal Polyps ISO RGD:735832 D RGD:9068941 20200609 RGD mRNA:increased expression:nose PMID:20422702|REF_RGD_ID:5129163 12363226 LEPR leptin receptor gene DOID:9001542 Albuminuria ISO RGD:735832 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:17065336|PMID:20175764|PMID:23159718|PMID:28130181|PMID:29988851 12363226 LEPR leptin receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3001 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:23886859|REF_RGD_ID:10412036 12363226 LEPR leptin receptor gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:735832 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35235096 12363226 LEPR leptin receptor gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10865 D RGD:9068941 20200609 RGD PMID:21148797|REF_RGD_ID:5128846 12363226 LEPR leptin receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:735832 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:28130181|PMID:29988851 12363226 LEPR leptin receptor gene DOID:9002211 Hyperalgesia ISO RGD:735832 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:29143802 12363226 LEPR leptin receptor gene DOID:9002331 Knee Osteoarthritis ISO RGD:735832 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:23575542|REF_RGD_ID:10411887 12363226 LEPR leptin receptor gene DOID:9002331 Knee Osteoarthritis susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:SNP:CDS:668A>G (human) PMID:23575542|REF_RGD_ID:10411887 12363226 LEPR leptin receptor gene DOID:9002407 Spinal Fractures susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:missense mutation:CDS:p.Q223R (human) PMID:17243864|REF_RGD_ID:10411889 12363226 LEPR leptin receptor gene DOID:9002569 Overweight ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23038009 12363226 LEPR leptin receptor gene DOID:9002916 Hyperphagia ISO RGD:3001 D RGD:9068941 20200609 RGD PMID:26537785|REF_RGD_ID:12911216 12363226 LEPR leptin receptor gene DOID:9002916 Hyperphagia ISO RGD:3001 D RGD:9068941 20201211 RGD compared to age-matched lean +/fa rats PMID:9843879|REF_RGD_ID:628910 12363226 LEPR leptin receptor gene DOID:9002916 Hyperphagia ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15093691|PMID:17229951|PMID:3519326 12363226 LEPR leptin receptor gene DOID:9003370 Dyslipidemias ISO RGD:3001 D RGD:9068941 20200609 RGD PMID:26537785|REF_RGD_ID:12911216 12363226 LEPR leptin receptor gene DOID:9003370 Dyslipidemias ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20567778|PMID:29988851 12363226 LEPR leptin receptor gene DOID:9004017 Chronic Hepatitis C ISO RGD:735832 D RGD:9068941 20200609 RGD mRNA:altered expression:liver, peripheral blood mononuclear cell PMID:17060687|REF_RGD_ID:21079470 12363226 LEPR leptin receptor gene DOID:9004272 Varicose Ulcer ISO RGD:735832 D RGD:9068941 20200609 RGD mRNA:decreased expression:skin PMID:22773832|REF_RGD_ID:10412021 12363226 LEPR leptin receptor gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3001 D RGD:9068941 20200609 RGD PMID:18469142|REF_RGD_ID:5129122 12363226 LEPR leptin receptor gene DOID:9004657 Weight Gain ISO RGD:735832 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:15809509|PMID:29143802|PMID:29988851 12363226 LEPR leptin receptor gene DOID:9004946 Leptin Receptor Deficiency ISO RGD:735832 D RGD:7240710 20180130 OMIM 12363226 LEPR leptin receptor gene DOID:9004946 Leptin Receptor Deficiency ISO RGD:735832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leptin receptor deficiency PMID:11354636|PMID:11380591|PMID:11443193|PMID:12006639|PMID:12646666|PMID:15585384|PMID:16284652|PMID:17229951|PMID:17785359|PMID:18212354|PMID:18490929|PMID:18703626|PMID:21393862|PMID:21744741|PMID:22331430|PMID:22810975|PMID:24611737|PMID:25741868|PMID:26094658|PMID:26467025|PMID:28492532|PMID:29970488|PMID:31237021|PMID:8666155|PMID:9144432|PMID:9537324|PMID:9860295 12363226 LEPR leptin receptor gene DOID:9005369 Hepatomegaly ISO RGD:735832 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:23038009|PMID:29743445 12363226 LEPR leptin receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735832 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:15093691|PMID:16427799|PMID:17065336|PMID:19452630|PMID:19478208|PMID:20567778|PMID:22933112|PMID:24263156|PMID:26939912|PMID:27151219|PMID:30635400|PMID:35472412 12363226 LEPR leptin receptor gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30689673 12363226 LEPR leptin receptor gene DOID:9006205 Animal Disease Models ISO RGD:735832 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35235096 12363226 LEPR leptin receptor gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:735832 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35235096 12363226 LEPR leptin receptor gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:missense mutation:CDS:p.Q223R (human) PMID:19337797|REF_RGD_ID:2311129 12363226 LEPR leptin receptor gene DOID:9007284 Precocious Puberty ISO RGD:735832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral precocious puberty 12363226 LEPR leptin receptor gene DOID:9007402 Gliosis ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29191728 12363226 LEPR leptin receptor gene DOID:9007456 Female Infertility ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22265003 12363226 LEPR leptin receptor gene DOID:9007692 Insulin Resistance ISO RGD:3001 D RGD:9068941 20200609 RGD PMID:23154293|REF_RGD_ID:13432147 12363226 LEPR leptin receptor gene DOID:9007692 Insulin Resistance ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19452630|PMID:20567778|PMID:25367288|PMID:28611668|PMID:29988851|PMID:30689673 12363226 LEPR leptin receptor gene DOID:9007692 Insulin Resistance ISO RGD:735832 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:missense mutation:CDS:p.K656N (human) PMID:18632178|REF_RGD_ID:2311138 12363226 LEPR leptin receptor gene DOID:9007692 Insulin Resistance ISO RGD:735832 D RGD:9068941 20200609 RGD associated with Obesity;DNA:missense mutation:CDS:p.K656N (human) PMID:18413223|REF_RGD_ID:2311142 12363226 LEPR leptin receptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3001 D RGD:9068941 20200609 RGD mRNA:altered expression:heart PMID:17134725|REF_RGD_ID:1626628 12363226 LEPR leptin receptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3001 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:15284063|REF_RGD_ID:5129123 12363226 LEPR leptin receptor gene DOID:9008163 Chronic Hepatitis B ISO RGD:735832 D RGD:9068941 20200609 RGD mRNA:altered expression:liver, peripheral blood mononuclear cell PMID:17060687|REF_RGD_ID:21079470 12363226 LEPR leptin receptor gene DOID:9008680 Respiratory Tract Infections ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17229951 12363226 LEPR leptin receptor gene DOID:9008939 Breast Neoplasms ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21353530 12363226 LEPR leptin receptor gene DOID:9351 diabetes mellitus ISO RGD:735832 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 12363226 LEPR leptin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:10865 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 12363226 LEPR leptin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:3001 D RGD:9068941 20200609 RGD PMID:23154293|REF_RGD_ID:13432147 12363226 LEPR leptin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20175764|PMID:22933112|PMID:24263156|PMID:26939912 12363226 LEPR leptin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:18439701|REF_RGD_ID:2311141 12363226 LEPR leptin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:735832 D RGD:9068941 20200609 RGD associated with nonalcoholic fatty liver disease;DNA:intron:c.2673+1118C>T (rs6700896) (human) PMID:22215535|REF_RGD_ID:14696694 12363226 LEPR leptin receptor gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:insertion:3' utr (human) PMID:17065694|REF_RGD_ID:2311144 12363226 LEPR leptin receptor gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:10865 D RGD:9068941 20200609 RGD PMID:16284652|REF_RGD_ID:10412018 12363226 LEPR leptin receptor gene DOID:9452 fatty liver disease ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25367288|PMID:29743445 12363226 LEPR leptin receptor gene DOID:9743 diabetic neuropathy ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24263156 12363226 LEPR leptin receptor gene DOID:9970 obesity ISO RGD:735832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity PMID:11354636|PMID:11380591|PMID:11443193|PMID:12006639|PMID:17785359|PMID:18490929|PMID:21393862|PMID:21744741|PMID:22331430|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8666155 12363226 LEPR leptin receptor gene DOID:9970 obesity disease_progression ISO RGD:3001 D RGD:9068941 20201211 RGD PMID:27465994|REF_RGD_ID:12911217 12363226 LEPR leptin receptor gene DOID:9970 obesity no_association ISO RGD:735832 D RGD:9068941 20200609 RGD PMID:9545018|REF_RGD_ID:10412023 12363226 LEPR leptin receptor gene DOID:9970 obesity sexual_dimorphism ISO RGD:3001 D RGD:9068941 20201211 RGD compared to BN PMID:20159938|REF_RGD_ID:7365117 12363226 LEPR leptin receptor gene DOID:9970 obesity susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.Q223R (human) PMID:18204169|REF_RGD_ID:5128855 12363226 LEPR leptin receptor gene DOID:9970 obesity treatment ISO RGD:10865 D RGD:9068941 20200609 RGD PMID:16284652|REF_RGD_ID:10412018 12363261 FGL1 fibrinogen like 1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:737041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 12363261 FGL1 fibrinogen like 1 gene DOID:630 genetic disease ISO RGD:737041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363276 PNPLA8 patatin like phospholipase domain containing 8 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12363276 PNPLA8 patatin like phospholipase domain containing 8 gene DOID:630 genetic disease ISO RGD:1603644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12363276 PNPLA8 patatin like phospholipase domain containing 8 gene DOID:9002494 Mitochondrial Myopathy with Lactic Acidosis ISO RGD:1603644 D RGD:7240710 20180130 OMIM 12363276 PNPLA8 patatin like phospholipase domain containing 8 gene DOID:9002494 Mitochondrial Myopathy with Lactic Acidosis ISO RGD:1603644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial myopathy with lactic acidosis PMID:19840936|PMID:25512002|PMID:25741868|PMID:28492532|PMID:34782754 12363293 CDHR3 cadherin related family member 3 gene DOID:0080600 COVID-19 ISO RGD:1603532 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12363293 CDHR3 cadherin related family member 3 gene DOID:10754 otitis media ISO RGD:1603532 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to nonsyndromic otitis media 12363293 CDHR3 cadherin related family member 3 gene DOID:2841 asthma ISO RGD:1603532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24241537 12363293 CDHR3 cadherin related family member 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12363293 CDHR3 cadherin related family member 3 gene DOID:630 genetic disease ISO RGD:1603532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363316 RANBP3 RAN binding protein 3 gene DOID:630 genetic disease ISO RGD:1313698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363355 PP2D1 protein phosphatase 2C like domain containing 1 gene DOID:0060417 3p deletion syndrome ISO RGD:1604736 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12363362 MAP3K19 mitogen-activated protein kinase kinase kinase 19 gene DOID:630 genetic disease ISO RGD:1604798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363379 ATCAY ATCAY kinesin light chain interacting caytaxin gene DOID:0050753 cerebellar ataxia susceptibility ISO RGD:1319593 D RGD:9068941 20200609 RGD PMID:14556008|REF_RGD_ID:1599348 12363379 ATCAY ATCAY kinesin light chain interacting caytaxin gene DOID:0060694 Cayman type cerebellar ataxia ISO RGD:1319593 D RGD:7240710 20180130 OMIM 12363379 ATCAY ATCAY kinesin light chain interacting caytaxin gene DOID:0060694 Cayman type cerebellar ataxia ISO RGD:1319593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cayman type cerebellar ataxia PMID:25741868|PMID:28492532|PMID:29449188 12363379 ATCAY ATCAY kinesin light chain interacting caytaxin gene DOID:13938 amenorrhea ISO RGD:1319593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12363379 ATCAY ATCAY kinesin light chain interacting caytaxin gene DOID:543 dystonia ISO RGD:1309312 D RGD:9068941 20200609 RGD DNA:insertion:intron (rat) PMID:16246457|REF_RGD_ID:5133436 12363379 ATCAY ATCAY kinesin light chain interacting caytaxin gene DOID:543 dystonia ISO RGD:1617620 D RGD:9068941 20200609 RGD DNA:insertions, deletion:intron, exons (mouse) PMID:14556008|REF_RGD_ID:1599348 12363379 ATCAY ATCAY kinesin light chain interacting caytaxin gene DOID:630 genetic disease ISO RGD:1319593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363379 ATCAY ATCAY kinesin light chain interacting caytaxin gene DOID:9004866 Ataxia ISO RGD:1617620 D RGD:9068941 20200609 RGD DNA:insertions, deletion:intron, exons (mouse) PMID:14556008|REF_RGD_ID:1599348 12363396 PRDM8 PR/SET domain 8 gene DOID:0080600 COVID-19 ISO RGD:1323184 D RGD:9068941 20200702 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12363396 PRDM8 PR/SET domain 8 gene DOID:0111445 progressive myoclonus epilepsy 10 ISO RGD:1323184 D RGD:7240710 20180130 OMIM 12363396 PRDM8 PR/SET domain 8 gene DOID:0111445 progressive myoclonus epilepsy 10 ISO RGD:1323184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Lafora body disease PMID:22961547|PMID:25741868|PMID:28492532 12363396 PRDM8 PR/SET domain 8 gene DOID:630 genetic disease ISO RGD:1323184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12363396 PRDM8 PR/SET domain 8 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1323184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12363396 PRDM8 PR/SET domain 8 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1323184 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12363405 WNT10A Wnt family member 10A gene DOID:0050591 tooth agenesis ISO RGD:1315958 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Selective tooth agenesis | ClinVar Annotator: match by term: Tooth agenesis PMID:17847007|PMID:19559398|PMID:20979233|PMID:21279306|PMID:21484994|PMID:22581971|PMID:23401279|PMID:24033266|PMID:24043634|PMID:24311251|PMID:24312213|PMID:24449199|PMID:24700731|PMID:25629078|PMID:25741868|PMID:26964878|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28813618|PMID:28976000|PMID:29364747|PMID:30426266|PMID:30974434 12363405 WNT10A Wnt family member 10A gene DOID:0050746 mantle cell lymphoma ISO RGD:1315958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18787224 12363405 WNT10A Wnt family member 10A gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1315958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12363405 WNT10A Wnt family member 10A gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1315958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex PMID:22581971|PMID:23401279|PMID:24398796|PMID:28492532|PMID:30426266 12363405 WNT10A Wnt family member 10A gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1315958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12363405 WNT10A Wnt family member 10A gene DOID:0111647 Schopf-Schulz-Passarge syndrome ISO RGD:1315958 D RGD:7240710 20180130 OMIM 12363405 WNT10A Wnt family member 10A gene DOID:0111647 Schopf-Schulz-Passarge syndrome ISO RGD:1315958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome PMID:16199547|PMID:17847007|PMID:19471313|PMID:19559398|PMID:20163410|PMID:20979233|PMID:21143469|PMID:21279306|PMID:21484994|PMID:21834823|PMID:22581971|PMID:22670871|PMID:23167694|PMID:23401279|PMID:24033266|PMID:24043634|PMID:24311251|PMID:24312213|PMID:24398796|PMID:24449199|PMID:24458874|PMID:24700731|PMID:24702986|PMID:24902757|PMID:25356970|PMID:25545742|PMID:25629078|PMID:25741868|PMID:26087098|PMID:26964878|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28813618|PMID:28976000|PMID:28981473|PMID:29364747|PMID:30426266|PMID:30569517|PMID:30974434|PMID:31103801|PMID:33034246 12363405 WNT10A Wnt family member 10A gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1315958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12363405 WNT10A Wnt family member 10A gene DOID:14793 hypohidrotic ectodermal dysplasia ISO RGD:1315958 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia PMID:17847007|PMID:19559398|PMID:20979233|PMID:21279306|PMID:21484994|PMID:22581971|PMID:23401279|PMID:24033266|PMID:24449199|PMID:24700731|PMID:25629078|PMID:25741868|PMID:26964878|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28813618|PMID:28976000|PMID:29364747|PMID:30426266|PMID:30974434 12363405 WNT10A Wnt family member 10A gene DOID:2121 ectodermal dysplasia ISO RGD:1315958 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia PMID:17847007|PMID:19559398|PMID:20979233|PMID:21279306|PMID:21484994|PMID:21834823|PMID:22581971|PMID:23167694|PMID:23401279|PMID:24033266|PMID:24043634|PMID:24398796|PMID:24449199|PMID:24700731|PMID:24702986|PMID:24902757|PMID:25356970|PMID:25545742|PMID:25629078|PMID:25741868|PMID:26964878|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28813618|PMID:28976000|PMID:29364747|PMID:30426266|PMID:30974434 12363405 WNT10A Wnt family member 10A gene DOID:3390 palmoplantar keratosis ISO RGD:1315958 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma PMID:24449199|PMID:28492532 12363405 WNT10A Wnt family member 10A gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1315958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12363405 WNT10A Wnt family member 10A gene DOID:630 genetic disease ISO RGD:1315958 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17847007|PMID:19559398|PMID:20979233|PMID:21279306|PMID:21484994|PMID:21834823|PMID:22581971|PMID:23167694|PMID:23401279|PMID:24033266|PMID:24043634|PMID:24398796|PMID:24449199|PMID:24700731|PMID:24702986|PMID:24902757|PMID:25356970|PMID:25545742|PMID:25629078|PMID:25741868|PMID:26964878|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28813618|PMID:28976000|PMID:28981473|PMID:29364747|PMID:30426266|PMID:30569517|PMID:30974434 12363405 WNT10A Wnt family member 10A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12363405 WNT10A Wnt family member 10A gene DOID:9006065 Arthralgia ISO RGD:1315958 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arthralgias PMID:24449199|PMID:28492532 12363405 WNT10A Wnt family member 10A gene DOID:9008653 Selective Tooth Agenesis 4 ISO RGD:1315958 D RGD:7240710 20180130 OMIM 12363405 WNT10A Wnt family member 10A gene DOID:9008653 Selective Tooth Agenesis 4 ISO RGD:1315958 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LATERAL INCISORS, PEGGED OR MISSING | ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, 4, WITH OR WITHOUT ECTODERMAL DYSPLASIA | ClinVar Annotator: match by term: Tooth agenesis, selective, 4 PMID:16199547|PMID:17576681|PMID:17847007|PMID:19471313|PMID:19559398|PMID:20163410|PMID:20979233|PMID:21143469|PMID:21279306|PMID:21484994|PMID:21834823|PMID:22581971|PMID:22670871|PMID:23167694|PMID:23401279|PMID:23991204|PMID:24033266|PMID:24043634|PMID:24311251|PMID:24312213|PMID:24398796|PMID:24449199|PMID:24458874|PMID:24700731|PMID:24702986|PMID:24902757|PMID:25356970|PMID:25545742|PMID:25629078|PMID:25741868|PMID:26087098|PMID:26964878|PMID:27657131|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28813618|PMID:2897600|PMID:28976000|PMID:28981473|PMID:29271000|PMID:29364747|PMID:29758562|PMID:30426266|PMID:30569517|PMID:30974434|PMID:31103801|PMID:33034246|PMID:9536098 12363405 WNT10A Wnt family member 10A gene DOID:9008686 Odontoonychodermal Dysplasia ISO RGD:1315958 D RGD:7240710 20180130 OMIM 12363405 WNT10A Wnt family member 10A gene DOID:9008686 Odontoonychodermal Dysplasia ISO RGD:1315958 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 16, HYPO- OR HYPERHIDROTIC/HAIR/TOOTH/NAIL TYPE PMID:16199547|PMID:17576681|PMID:17847007|PMID:19471313|PMID:19559398|PMID:20163410|PMID:20979233|PMID:21143469|PMID:21279306|PMID:21484994|PMID:21834823|PMID:22581971|PMID:22670871|PMID:23167694|PMID:23401279|PMID:23991204|PMID:24033266|PMID:24043634|PMID:24311251|PMID:24312213|PMID:24398796|PMID:24449199|PMID:24458874|PMID:24700731|PMID:24702986|PMID:24902757|PMID:25356970|PMID:25545742|PMID:25629078|PMID:25741868|PMID:26087098|PMID:26964878|PMID:27657131|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28589954|PMID:28813618|PMID:2897600|PMID:28976000|PMID:28981473|PMID:29271000|PMID:29364747|PMID:29758562|PMID:30426266|PMID:30569517|PMID:30974434|PMID:31103801|PMID:33034246|PMID:9536098 12363418 ARSK arylsulfatase family member K gene DOID:0060041 autism spectrum disorder ISO RGD:1606445 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12363418 ARSK arylsulfatase family member K gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606445 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12363418 ARSK arylsulfatase family member K gene DOID:12798 mucopolysaccharidosis ISO RGD:1320932 D RGD:9068941 20220825 MouseDO OMIM:252700 12363418 ARSK arylsulfatase family member K gene DOID:630 genetic disease ISO RGD:1606445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363418 ARSK arylsulfatase family member K gene DOID:9000814 Mucopolysaccharidosis X ISO RGD:1606445 D RGD:7240710 20220112 OMIM 12363418 ARSK arylsulfatase family member K gene DOID:9000814 Mucopolysaccharidosis X ISO RGD:1606445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ARSK DEFICIENCY | ClinVar Annotator: match by term: ARYLSULFATASE K DEFICIENCY PMID:34916232 12363418 ARSK arylsulfatase family member K gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12363418 ARSK arylsulfatase family member K gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606445 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12363428 ALDH3A1 aldehyde dehydrogenase 3 family member A1 gene DOID:0060041 autism spectrum disorder ISO RGD:733180 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12363428 ALDH3A1 aldehyde dehydrogenase 3 family member A1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:733180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12363428 ALDH3A1 aldehyde dehydrogenase 3 family member A1 gene DOID:10126 keratoconus ISO RGD:733180 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 12363428 ALDH3A1 aldehyde dehydrogenase 3 family member A1 gene DOID:12849 autistic disorder ISO RGD:733180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12363428 ALDH3A1 aldehyde dehydrogenase 3 family member A1 gene DOID:2349 arteriosclerosis ISO RGD:733180 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:erythrocyte PMID:3949078|REF_RGD_ID:2300309 12363428 ALDH3A1 aldehyde dehydrogenase 3 family member A1 gene DOID:630 genetic disease ISO RGD:733180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363428 ALDH3A1 aldehyde dehydrogenase 3 family member A1 gene DOID:83 cataract ISO RGD:733180 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28038895 12363428 ALDH3A1 aldehyde dehydrogenase 3 family member A1 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:733180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 12363428 ALDH3A1 aldehyde dehydrogenase 3 family member A1 gene DOID:9004321 Corneal Injuries ISO RGD:733180 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28038895 12363485 PCYT1B phosphate cytidylyltransferase 1B, choline gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12363485 PCYT1B phosphate cytidylyltransferase 1B, choline gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1348765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:19439424|PMID:19738637|PMID:24643514|PMID:26337422|PMID:28492532 12363485 PCYT1B phosphate cytidylyltransferase 1B, choline gene DOID:12849 autistic disorder ISO RGD:1348765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12363485 PCYT1B phosphate cytidylyltransferase 1B, choline gene DOID:630 genetic disease ISO RGD:1348765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363485 PCYT1B phosphate cytidylyltransferase 1B, choline gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1348765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12363485 PCYT1B phosphate cytidylyltransferase 1B, choline gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12363516 TNFRSF21 TNF receptor superfamily member 21 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1316426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24113175 12363516 TNFRSF21 TNF receptor superfamily member 21 gene DOID:630 genetic disease ISO RGD:1316426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363516 TNFRSF21 TNF receptor superfamily member 21 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11753679 12363516 TNFRSF21 TNF receptor superfamily member 21 gene DOID:9007402 Gliosis ISO RGD:1316426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24113175 12363540 FAM83E family with sequence similarity 83 member E gene DOID:630 genetic disease ISO RGD:1606549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363549 SYP synaptophysin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12363549 SYP synaptophysin gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:737494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12363549 SYP synaptophysin gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:737494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12363549 SYP synaptophysin gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:737494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 12363549 SYP synaptophysin gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:737494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23516525 12363549 SYP synaptophysin gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:737494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12363549 SYP synaptophysin gene DOID:0112035 non-syndromic X-linked intellectual disability 96 ISO RGD:737494 D RGD:7240710 20180130 OMIM 12363549 SYP synaptophysin gene DOID:0112035 non-syndromic X-linked intellectual disability 96 ISO RGD:737494 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 96 PMID:19377476|PMID:23966691|PMID:25741868 12363549 SYP synaptophysin gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:737494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12363549 SYP synaptophysin gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:737494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12363549 SYP synaptophysin gene DOID:10652 Alzheimer's disease ISO RGD:11373 D RGD:9068941 20200609 RGD denntate gyrus, hippocampus, entorhinal cortex PMID:20847448|REF_RGD_ID:13506238 12363549 SYP synaptophysin gene DOID:10652 Alzheimer's disease ISO RGD:3802 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus, temporal cortex PMID:20847448|REF_RGD_ID:13506238 12363549 SYP synaptophysin gene DOID:10652 Alzheimer's disease ISO RGD:737494 D RGD:9068941 20200609 RGD protein:decreased expression:dentate gyrus molecular layer,hippocampus,entorhinal, tempocampal corteces: PMID:20847448|REF_RGD_ID:13506238 12363549 SYP synaptophysin gene DOID:12849 autistic disorder ISO RGD:737494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12363549 SYP synaptophysin gene DOID:3908 lung non-small cell carcinoma ISO RGD:737494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21595568 12363549 SYP synaptophysin gene DOID:5419 schizophrenia ISO RGD:737494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11483314 12363549 SYP synaptophysin gene DOID:5463 cochlear disease ISO RGD:8768375 D RGD:9068941 20200609 RGD PMID:12429223|REF_RGD_ID:11554034 12363549 SYP synaptophysin gene DOID:630 genetic disease ISO RGD:737494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363549 SYP synaptophysin gene DOID:8927 learning disability ISO RGD:737494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21295146 12363549 SYP synaptophysin gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:737494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19377476 12363549 SYP synaptophysin gene DOID:9008023 Memory Disorders ISO RGD:737494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21295146 12363568 GPR68 G protein-coupled receptor 68 gene DOID:0080054 achondrogenesis type IA ISO RGD:1319965 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12363568 GPR68 G protein-coupled receptor 68 gene DOID:0080600 COVID-19 ISO RGD:1319965 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12363568 GPR68 G protein-coupled receptor 68 gene DOID:0080960 amelogenesis imperfecta type 2A6 ISO RGD:1319965 D RGD:7240710 20190315 OMIM 12363568 GPR68 G protein-coupled receptor 68 gene DOID:0080960 amelogenesis imperfecta type 2A6 ISO RGD:1319965 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6 PMID:25741868|PMID:27693231 12363568 GPR68 G protein-coupled receptor 68 gene DOID:2187 amelogenesis imperfecta ISO RGD:1319965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta PMID:27693231 12363568 GPR68 G protein-coupled receptor 68 gene DOID:630 genetic disease ISO RGD:1319965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363568 GPR68 G protein-coupled receptor 68 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12363589 CUEDC2 CUE domain containing 2 gene DOID:630 genetic disease ISO RGD:1317669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363609 ERCC5 ERCC excision repair 5, endonuclease gene DOID:0050117 disease by infectious agent treatment ISO RGD:1342473 D RGD:9068941 20221006 RGD associated with lung non-small cell carcinoma;DNA:missense mutation:CDS:p.D1104H (human) PMID:23118991|REF_RGD_ID:155260358 12363609 ERCC5 ERCC excision repair 5, endonuclease gene DOID:0050427 xeroderma pigmentosum ISO RGD:1342473 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:11841555|PMID:23370536|PMID:24033266|PMID:24700531|PMID:2478446|PMID:25741868|PMID:28492532|PMID:29130490|PMID:29749609|PMID:30838033|PMID:31130284|PMID:32522879|PMID:7951246|PMID:8317483|PMID:9096355 12363609 ERCC5 ERCC excision repair 5, endonuclease gene DOID:0080763 diffuse gastric cancer ameliorates ISO RGD:1342473 D RGD:9068941 20221006 RGD mRNA:increased expression:stomach (human) PMID:30417012|REF_RGD_ID:155260342 12363609 ERCC5 ERCC excision repair 5, endonuclease gene DOID:0080913 cerebrooculofacioskeletal syndrome 3 ISO RGD:1342473 D RGD:7240710 20180130 OMIM 12363609 ERCC5 ERCC excision repair 5, endonuclease gene DOID:0080913 cerebrooculofacioskeletal syndrome 3 ISO RGD:1342473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 3 PMID:11443545|PMID:17466625|PMID:17576681|PMID:24700531|PMID:24728327|PMID:25741868|PMID:28492532|PMID:29641532|PMID:30306255|PMID:30838033|PMID:31130284|PMID:8818951|PMID:9096355|PMID:9536098 12363609 ERCC5 ERCC excision repair 5, endonuclease gene DOID:0110849 xeroderma pigmentosum group G ISO RGD:1342473 D RGD:7240710 20180130 OMIM 12363609 ERCC5 ERCC excision repair 5, endonuclease gene DOID:0110849 xeroderma pigmentosum group G ISO RGD:1342473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group G PMID:10026181|PMID:11219864|PMID:11841555|PMID:12060391|PMID:15082767|PMID:15682379|PMID:16550608|PMID:17466625|PMID:22821389|PMID:23255472|PMID:23370536|PMID:24033266|PMID:24354460|PMID:24700531|PMID:24728327|PMID:25714468|PMID:25741868|PMID:25795128|PMID:26149386|PMID:26580448|PMID:26884178|PMID:27104957|PMID:28492532|PMID:28654958|PMID:29641532|PMID:29891518|PMID:30086788|PMID:30306255|PMID:32522879|PMID:33219753|PMID:492197|PMID:698095|PMID:7951246|PMID:9096355 12363609 ERCC5 ERCC excision repair 5, endonuclease gene DOID:0110878 holoprosencephaly 5 ISO RGD:1342473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:28492532 12363609 ERCC5 ERCC excision repair 5, endonuclease gene DOID:10534 stomach cancer ameliorates ISO RGD:1342473 D RGD:9068941 20221006 RGD DNA:SNP:intron: (rs2094258) (human) PMID:27340861|REF_RGD_ID:155260339 12363609 ERCC5 ERCC excision repair 5, endonuclease gene DOID:1324 lung cancer susceptibility ISO RGD:1342473 D RGD:9068941 20221006 RGD mRNA:decreased expression:lung (human) PMID:10910954|REF_RGD_ID:155260338 12363609 ERCC5 ERCC excision repair 5, endonuclease gene DOID:14701 propionic acidemia ISO RGD:1342473 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 12363609 ERCC5 ERCC excision repair 5, endonuclease gene DOID:1909 melanoma disease_progression ISO RGD:1342473 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.D1104H(human) PMID:21390047|REF_RGD_ID:12880434 12363609 ERCC5 ERCC excision repair 5, endonuclease gene DOID:2394 ovarian cancer ISO RGD:1342473 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:28492532 12363609 ERCC5 ERCC excision repair 5, endonuclease gene DOID:2596 larynx cancer susceptibility ISO RGD:1342473 D RGD:9068941 20221006 RGD DNA:missense mutation:CDS:p.D1104H (human) PMID:19444904|REF_RGD_ID:155260337 12363609 ERCC5 ERCC excision repair 5, endonuclease gene DOID:2962 Cockayne syndrome ISO RGD:1342473 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum and Cockayne syndrome complex | ClinVar Annotator: match by term: Xeroderma pigmentosum group G/Cockayne syndrome PMID:11228268|PMID:2478446|PMID:25741868|PMID:30838033|PMID:8317483|PMID:9096355 12363609 ERCC5 ERCC excision repair 5, endonuclease gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1342473 D RGD:9068941 20220121 RGD PMID:24782167|REF_RGD_ID:151347410 12363609 ERCC5 ERCC excision repair 5, endonuclease gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1342473 D RGD:9068941 20221006 RGD DNA:SNPs:multiple (human) PMID:28924235|REF_RGD_ID:153323316 12363609 ERCC5 ERCC excision repair 5, endonuclease gene DOID:630 genetic disease ISO RGD:1342473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12060391|PMID:23255472|PMID:23370536|PMID:24728327|PMID:25741868|PMID:25795128|PMID:26149386|PMID:28492532|PMID:30086788|PMID:30306255|PMID:32522879 12363609 ERCC5 ERCC excision repair 5, endonuclease gene DOID:687 hepatoblastoma ISO RGD:1342473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 12363609 ERCC5 ERCC excision repair 5, endonuclease gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1342473 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:34182385 12363609 ERCC5 ERCC excision repair 5, endonuclease gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1342473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12363609 ERCC5 ERCC excision repair 5, endonuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1342473 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15682379|PMID:16550608|PMID:22821389|PMID:24728327|PMID:25741868|PMID:26580448|PMID:27104957|PMID:27356891|PMID:28492532|PMID:29641532|PMID:29891518|PMID:30086788|PMID:30306255|PMID:32127467|PMID:34130653 12363609 ERCC5 ERCC excision repair 5, endonuclease gene DOID:9008443 Colorectal Neoplasms ISO RGD:1342473 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:34182385 12363609 ERCC5 ERCC excision repair 5, endonuclease gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:1342473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 12363637 MIR592 microRNA mir-592 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424|PMID:28545106 12363637 MIR592 microRNA mir-592 gene DOID:9256 colorectal cancer ISO RGD:1603083 D RGD:9068941 20220728 RGD RNA:increased expression:colorectum PMID:27661126|REF_RGD_ID:153298906 12363688 UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:1520 colon carcinoma ISO RGD:68482 D RGD:9068941 20200609 RGD mRNA:increased expression:colonic mucosa (human) PMID:8541345|REF_RGD_ID:11352739 12363688 UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:630 genetic disease ISO RGD:68482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363688 UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:9000998 Brain Injuries ISO RGD:68344 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex, hippocampus (rat) PMID:17936732|REF_RGD_ID:11041870 12363688 UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:68482 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:urine (human) PMID:17634209|REF_RGD_ID:2311211 12363688 UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:68483 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (mouse) PMID:12171997|REF_RGD_ID:11352735 12363688 UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:68482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12363704 DBH dopamine beta-hydroxylase gene DOID:0050771 pheochromocytoma ISO RGD:736659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22569243 12363704 DBH dopamine beta-hydroxylase gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:736659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12363704 DBH dopamine beta-hydroxylase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:736659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12363704 DBH dopamine beta-hydroxylase gene DOID:0080324 tuberous sclerosis 1 ISO RGD:736659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12363704 DBH dopamine beta-hydroxylase gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:736659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12363704 DBH dopamine beta-hydroxylase gene DOID:0081097 Rafiq syndrome ISO RGD:736659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12363704 DBH dopamine beta-hydroxylase gene DOID:0090145 dopamine beta-hydroxylase deficiency ISO RGD:736659 D RGD:7240710 20180130 OMIM 12363704 DBH dopamine beta-hydroxylase gene DOID:0090145 dopamine beta-hydroxylase deficiency ISO RGD:736659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dopamine beta-hydroxylase deficiency PMID:11170900|PMID:11857564|PMID:14598346|PMID:15060114|PMID:17576681|PMID:20186791|PMID:21209083|PMID:21471955|PMID:22028891|PMID:23622564|PMID:24033266|PMID:25450229|PMID:25741868|PMID:26762739|PMID:27778639|PMID:28492532|PMID:7715704|PMID:9536098 12363704 DBH dopamine beta-hydroxylase gene DOID:10003 sensorineural hearing loss ISO RGD:736659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 12363704 DBH dopamine beta-hydroxylase gene DOID:10024 migraine with aura ISO RGD:736659 D RGD:9068941 20200609 RGD DNA:insertion, deletion:5' utr:g.-4767+?--4688-? (human) PMID:17095019|REF_RGD_ID:1625569 12363704 DBH dopamine beta-hydroxylase gene DOID:1059 intellectual disability ISO RGD:10460 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex (mouse) PMID:18823370|REF_RGD_ID:2311578 12363704 DBH dopamine beta-hydroxylase gene DOID:10762 portal hypertension ISO RGD:2489 D RGD:9068941 20200609 RGD protein:decreased expression:mesenteric artery (rat) PMID:19968782|REF_RGD_ID:5129480 12363704 DBH dopamine beta-hydroxylase gene DOID:10763 hypertension ISO RGD:2489 D RGD:9068941 20200609 RGD mRNA:increased expression:heart, adrenal gland (rat) PMID:20596792|REF_RGD_ID:5129234 12363704 DBH dopamine beta-hydroxylase gene DOID:10763 hypertension resistance ISO RGD:736659 D RGD:9068941 20200609 RGD DNA:polymorphism:5' utr:g.-2073C>T rs1989787 (human) PMID:20814407|REF_RGD_ID:5129211 12363704 DBH dopamine beta-hydroxylase gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736659 D RGD:9068941 20200609 RGD DNA:SNP:intron PMID:12707943|REF_RGD_ID:1358584 12363704 DBH dopamine beta-hydroxylase gene DOID:14330 Parkinson's disease ISO RGD:736659 D RGD:9068941 20200609 RGD protein:increased expression:frontal cortex (human) PMID:19276553|REF_RGD_ID:5129515 12363704 DBH dopamine beta-hydroxylase gene DOID:14330 Parkinson's disease susceptibility ISO RGD:736659 D RGD:9068941 20200609 RGD DNA:snp:5' utr:g.-1021C>T (human) PMID:14991826|REF_RGD_ID:1358583 12363704 DBH dopamine beta-hydroxylase gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12363704 DBH dopamine beta-hydroxylase gene DOID:1574 alcohol use disorder ISO RGD:736659 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:g.444G>A (human) PMID:16252068|REF_RGD_ID:1625571 12363704 DBH dopamine beta-hydroxylase gene DOID:1574 alcohol use disorder no_association ISO RGD:736659 D RGD:9068941 20200609 RGD DNA:polymorphism:5' utr:g.-1021C>T (human) PMID:16133787|REF_RGD_ID:1625572 12363704 DBH dopamine beta-hydroxylase gene DOID:1596 depressive disorder ISO RGD:2489 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex (rat) PMID:19120095|REF_RGD_ID:5129527 12363704 DBH dopamine beta-hydroxylase gene DOID:2316 brain ischemia ISO RGD:2489 D RGD:9068941 20200609 RGD protein:decreased expression:forebrain (rat) PMID:18356740|REF_RGD_ID:5129691 12363704 DBH dopamine beta-hydroxylase gene DOID:3652 Leigh disease ISO RGD:736659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12363704 DBH dopamine beta-hydroxylase gene DOID:630 genetic disease ISO RGD:736659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12363704 DBH dopamine beta-hydroxylase gene DOID:684 hepatocellular carcinoma ISO RGD:736659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12363704 DBH dopamine beta-hydroxylase gene DOID:769 neuroblastoma ISO RGD:736659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25174395 12363704 DBH dopamine beta-hydroxylase gene DOID:9001109 Anorexia ISO RGD:2489 D RGD:9068941 20200609 RGD PMID:20554938|REF_RGD_ID:5129235 12363704 DBH dopamine beta-hydroxylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2489 D RGD:9068941 20200609 RGD mRNA:decreased expression:superior mesenteric artery (rat) PMID:18457899|REF_RGD_ID:5129683 12363704 DBH dopamine beta-hydroxylase gene DOID:9004890 Paranoid Disorders ISO RGD:736659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10673769|PMID:12555232|PMID:17157269 12363704 DBH dopamine beta-hydroxylase gene DOID:9005166 Contusions ISO RGD:2489 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland (rat) PMID:18987458|REF_RGD_ID:5129532 12363704 DBH dopamine beta-hydroxylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2489 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:adrenal gland (rat) PMID:16396986|REF_RGD_ID:5130724 12363704 DBH dopamine beta-hydroxylase gene DOID:9006024 Hypotension ISO RGD:10460 D RGD:9068941 20200609 RGD PMID:12969876|REF_RGD_ID:5129693 12363720 PEX13 peroxisomal biogenesis factor 13 gene DOID:0050444 infantile Refsum disease ISO RGD:1321726 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:25741868|PMID:28492532|PMID:33190326|PMID:35854306 12363720 PEX13 peroxisomal biogenesis factor 13 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1321726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10332040|PMID:10441568|PMID:19449432 12363720 PEX13 peroxisomal biogenesis factor 13 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1321726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) 12363720 PEX13 peroxisomal biogenesis factor 13 gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:1321726 D RGD:7240710 20180130 OMIM 12363720 PEX13 peroxisomal biogenesis factor 13 gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:1321726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:10332040|PMID:10441568|PMID:16006427|PMID:16199547|PMID:17041890|PMID:17576681|PMID:19449432|PMID:21031596|PMID:25741868|PMID:27827795|PMID:28492532|PMID:33190326|PMID:34055681|PMID:35854306|PMID:9480815|PMID:9536098 12363720 PEX13 peroxisomal biogenesis factor 13 gene DOID:10588 adrenoleukodystrophy ISO RGD:1321726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10441568 12363720 PEX13 peroxisomal biogenesis factor 13 gene DOID:630 genetic disease ISO RGD:1321726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12363720 PEX13 peroxisomal biogenesis factor 13 gene DOID:9005083 Peroxisome Biogenesis Disorder 11B ISO RGD:1321726 D RGD:7240710 20180130 OMIM 12363720 PEX13 peroxisomal biogenesis factor 13 gene DOID:9005083 Peroxisome Biogenesis Disorder 11B ISO RGD:1321726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11B PMID:10332040|PMID:10441568|PMID:16006427|PMID:17041890|PMID:21031596|PMID:25741868|PMID:27827795|PMID:28492532|PMID:33190326|PMID:35854306|PMID:9480815 12363720 PEX13 peroxisomal biogenesis factor 13 gene DOID:905 Zellweger syndrome ISO RGD:1321726 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:25741868|PMID:28492532|PMID:33190326|PMID:35854306 12363728 LOC475405 KRR1 small subunit processome component homolog gene DOID:630 genetic disease ISO RGD:1314657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363743 CDK13 cyclin dependent kinase 13 gene DOID:0060041 autism spectrum disorder ISO RGD:1322573 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:15632290|PMID:22512864|PMID:25741868|PMID:25741869|PMID:27479907|PMID:28135719|PMID:28492532|PMID:29021403|PMID:29222009 12363743 CDK13 cyclin dependent kinase 13 gene DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder ISO RGD:1322573 D RGD:7240710 20190315 OMIM 12363743 CDK13 cyclin dependent kinase 13 gene DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder ISO RGD:1322573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder PMID:15632290|PMID:22512864|PMID:25741868|PMID:25741869|PMID:27479907|PMID:28135719|PMID:28492532|PMID:28554332|PMID:28807008|PMID:29021403|PMID:29222009|PMID:29393965|PMID:30702837|PMID:30904094|PMID:31238879 12363743 CDK13 cyclin dependent kinase 13 gene DOID:10283 prostate cancer ISO RGD:1322573 D RGD:9068941 20221103 RGD mRNA,protein:increased expression:prostate: PMID:33390186|REF_RGD_ID:155641232 12363743 CDK13 cyclin dependent kinase 13 gene DOID:10286 prostate carcinoma ameliorates ISO RGD:1322573 D RGD:9068941 20221103 RGD PMID:33390186|REF_RGD_ID:155641232 12363743 CDK13 cyclin dependent kinase 13 gene DOID:1059 intellectual disability ISO RGD:1322573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12363743 CDK13 cyclin dependent kinase 13 gene DOID:13938 amenorrhea ISO RGD:1322573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12363743 CDK13 cyclin dependent kinase 13 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1322573 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:10441570|PMID:15739154|PMID:18000979|PMID:20672375|PMID:24736735|PMID:28492532|PMID:29236091 12363743 CDK13 cyclin dependent kinase 13 gene DOID:1612 breast cancer severity ISO RGD:1322573 D RGD:9068941 20221103 RGD PMID:33292020|REF_RGD_ID:155641236 12363743 CDK13 cyclin dependent kinase 13 gene DOID:1826 epilepsy ISO RGD:1322573 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12363743 CDK13 cyclin dependent kinase 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12363743 CDK13 cyclin dependent kinase 13 gene DOID:630 genetic disease ISO RGD:1322573 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15632290|PMID:22512864|PMID:25741868|PMID:25741869|PMID:27479907|PMID:28135719|PMID:28492532|PMID:28807008|PMID:29021403|PMID:29222009|PMID:29393965|PMID:30702837|PMID:30904094|PMID:33004838 12363743 CDK13 cyclin dependent kinase 13 gene DOID:684 hepatocellular carcinoma onset ISO RGD:1322573 D RGD:9068941 20221103 RGD DNA:amplification: : PMID:22912832|REF_RGD_ID:155641228 12363743 CDK13 cyclin dependent kinase 13 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1322573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:27479907|PMID:28135719|PMID:28492532|PMID:28807008|PMID:29021403|PMID:29222009|PMID:29393965|PMID:30702837|PMID:30904094 12363743 CDK13 cyclin dependent kinase 13 gene DOID:9008086 Developmental Disabilities ISO RGD:1322573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741891|PMID:27479907|PMID:28135719|PMID:28492532|PMID:28807008|PMID:29021403|PMID:29222009|PMID:29393965|PMID:30702837|PMID:30904094 12363762 EXOSC9 exosome component 9 gene DOID:0112323 pontocerebellar hypoplasia type 1D ISO RGD:1317344 D RGD:7240710 20190315 OMIM 12363762 EXOSC9 exosome component 9 gene DOID:0112323 pontocerebellar hypoplasia type 1D ISO RGD:1317344 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1D PMID:25741868|PMID:28492532|PMID:29727687|PMID:30125339|PMID:30690203|PMID:33040083|PMID:34782754 12363762 EXOSC9 exosome component 9 gene DOID:630 genetic disease ISO RGD:1317344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12363762 EXOSC9 exosome component 9 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1317344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 12363762 EXOSC9 exosome component 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12363778 ZNF532 zinc finger protein 532 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1323323 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 12363778 ZNF532 zinc finger protein 532 gene DOID:0111988 immunodeficiency 12 ISO RGD:1323323 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 12363778 ZNF532 zinc finger protein 532 gene DOID:12849 autistic disorder ISO RGD:1323323 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 12363778 ZNF532 zinc finger protein 532 gene DOID:630 genetic disease ISO RGD:1323323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363778 ZNF532 zinc finger protein 532 gene DOID:9775 diastolic heart failure ISO RGD:1551867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12363791 MYLK2 myosin light chain kinase 2 gene DOID:0050700 cardiomyopathy ISO RGD:737455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11733062|PMID:22995991|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532|PMID:29247119|PMID:31333075|PMID:31568572 12363791 MYLK2 myosin light chain kinase 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 12363791 MYLK2 myosin light chain kinase 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737455 D RGD:7240710 20180130 OMIM 12363791 MYLK2 myosin light chain kinase 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:11733062|PMID:17576681|PMID:22995991|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29247119|PMID:31333075|PMID:31568572|PMID:9536098 12363791 MYLK2 myosin light chain kinase 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:11733062|PMID:17576681|PMID:22995991|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28704380|PMID:28798025|PMID:29247119|PMID:29915097|PMID:31333075|PMID:31568572|PMID:9536098 12363791 MYLK2 myosin light chain kinase 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737455 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:11733062|PMID:17576681|PMID:22995991|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28704380|PMID:28798025|PMID:29247119|PMID:29915097|PMID:31333075|PMID:31376648|PMID:31568572|PMID:34426522|PMID:9536098 12363791 MYLK2 myosin light chain kinase 2 gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:737455 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:24033266|PMID:25741868|PMID:28492532 12363791 MYLK2 myosin light chain kinase 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12363791 MYLK2 myosin light chain kinase 2 gene DOID:14499 Fabry disease ISO RGD:737455 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:28492532 12363791 MYLK2 myosin light chain kinase 2 gene DOID:630 genetic disease ISO RGD:737455 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532 12363791 MYLK2 myosin light chain kinase 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:737455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 12363791 MYLK2 myosin light chain kinase 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:737455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532 12363791 MYLK2 myosin light chain kinase 2 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:620934 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:9005973|REF_RGD_ID:1580244 12363791 MYLK2 myosin light chain kinase 2 gene DOID:9007096 Stroke ISO RGD:737455 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Stroke PMID:23861362|PMID:25741868|PMID:28492532 12363791 MYLK2 myosin light chain kinase 2 gene DOID:9007820 Sudden Death ISO RGD:737455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:25741868|PMID:28492532 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:0050562 West syndrome ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:12374766|PMID:15525788|PMID:15800189|PMID:16199547|PMID:17576681|PMID:17881658|PMID:18414213|PMID:19254928|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:24194747|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25227913|PMID:25239001|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:25849321|PMID:25914188|PMID:25951352|PMID:26029160|PMID:26220391|PMID:26235739|PMID:26297079|PMID:26467025|PMID:26647175|PMID:26900580|PMID:26993267|PMID:27210545|PMID:27659738|PMID:27779742|PMID:27781031|PMID:27864847|PMID:27875746|PMID:27900360|PMID:28387369|PMID:28492532|PMID:28676574|PMID:28702509|PMID:28735751|PMID:28923014|PMID:29100083|PMID:29121005|PMID:29186148|PMID:29432985|PMID:29588952|PMID:29655203|PMID:29720203|PMID:29933521|PMID:30109124|PMID:30171078|PMID:30615093|PMID:30951195|PMID:30968951|PMID:31026061|PMID:31054490|PMID:31618753|PMID:31625145|PMID:32651551|PMID:32920374|PMID:9536098 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:12374766|PMID:15525788|PMID:15800189|PMID:16199547|PMID:17576681|PMID:17881658|PMID:18414213|PMID:19254928|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:24194747|PMID:24352161|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25227913|PMID:25239001|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:25799905|PMID:25849321|PMID:25914188|PMID:25951352|PMID:26029160|PMID:26220391|PMID:26235739|PMID:26252990|PMID:26297079|PMID:26467025|PMID:26544041|PMID:26647175|PMID:26677014|PMID:26900580|PMID:26993267|PMID:27210545|PMID:27375106|PMID:27659738|PMID:27779742|PMID:27781031|PMID:27864847|PMID:27875746|PMID:27900360|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28676574|PMID:28702509|PMID:28735751|PMID:28923014|PMID:29056246|PMID:29100083|PMID:29121005|PMID:29186148|PMID:29263050|PMID:29356177|PMID:29432985|PMID:29588952|PMID:29655203|PMID:29720203|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30171078|PMID:30185235|PMID:30314295|PMID:30615093|PMID:30951195|PMID:30968951|PMID:31026061|PMID:31054490|PMID:31402610|PMID:31487502|PMID:31618753|PMID:31625145|PMID:31675620|PMID:31887642|PMID:31904124|PMID:32040247|PMID:32651551|PMID:32725632|PMID:32901917|PMID:32916281|PMID:32920374|PMID:33004838|PMID:33201365|PMID:33827760|PMID:33851778|PMID:34431999|PMID:9536098 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:0050753 cerebellar ataxia ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:0050952 spastic ataxia ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:0080445 developmental and epileptic encephalopathy 13 ISO RGD:1351349 D RGD:7240710 20180130 OMIM 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:0080445 developmental and epileptic encephalopathy 13 ISO RGD:1351349 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 13 PMID:12374766|PMID:15525788|PMID:15800189|PMID:17576681|PMID:17881658|PMID:18414213|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:23708187|PMID:23934111|PMID:24194747|PMID:24352161|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25227913|PMID:25239001|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:25799905|PMID:25818041|PMID:25849321|PMID:25914188|PMID:25951352|PMID:26029160|PMID:26220391|PMID:26235738|PMID:26235739|PMID:26252990|PMID:26297079|PMID:26467025|PMID:26647175|PMID:26677014|PMID:26680202|PMID:26900580|PMID:26993267|PMID:27210545|PMID:27375106|PMID:27779742|PMID:27864847|PMID:27875746|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28676574|PMID:28708303|PMID:28735751|PMID:28923014|PMID:29100083|PMID:29186148|PMID:29263050|PMID:29588952|PMID:29655203|PMID:29720203|PMID:30171078|PMID:30185235|PMID:30615093|PMID:31026061|PMID:31680123|PMID:31780880|PMID:31904124|PMID:32581362|PMID:32901917|PMID:32916281|PMID:33201365|PMID:35599849|PMID:9536098 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1351349 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:0081118 benign familial infantile seizures 5 ISO RGD:1351349 D RGD:7240710 20190315 OMIM 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:0081118 benign familial infantile seizures 5 ISO RGD:1351349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 | ClinVar Annotator: match by term: Seizures, benign familial infantile, 5 PMID:12374766|PMID:17576681|PMID:17881658|PMID:18414213|PMID:22365152|PMID:24194747|PMID:24874546|PMID:24888894|PMID:25326635|PMID:25326637|PMID:25568300|PMID:25666757|PMID:25741868|PMID:25785782|PMID:25951352|PMID:26029160|PMID:26235739|PMID:26467025|PMID:26677014|PMID:26900580|PMID:27210545|PMID:27779742|PMID:27875746|PMID:28492532|PMID:28923014|PMID:29186148|PMID:29720203|PMID:30171078|PMID:30185235|PMID:30615093|PMID:31026061|PMID:31675620|PMID:9536098 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:12374766|PMID:15525788|PMID:15800189|PMID:16199547|PMID:17576681|PMID:17881658|PMID:18414213|PMID:19254928|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:24194747|PMID:24352161|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25227913|PMID:25239001|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:25799905|PMID:25849321|PMID:25914188|PMID:25951352|PMID:26029160|PMID:26220391|PMID:26235739|PMID:26252990|PMID:26297079|PMID:26467025|PMID:26544041|PMID:26647175|PMID:26677014|PMID:26900580|PMID:26993267|PMID:27210545|PMID:27375106|PMID:27659738|PMID:27779742|PMID:27781031|PMID:27864847|PMID:27875746|PMID:27900360|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28676574|PMID:28702509|PMID:28735751|PMID:28923014|PMID:29056246|PMID:29100083|PMID:29121005|PMID:29186148|PMID:29263050|PMID:29356177|PMID:29432985|PMID:29588952|PMID:29655203|PMID:29720203|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30171078|PMID:30185235|PMID:30314295|PMID:30615093|PMID:30951195|PMID:30968951|PMID:31026061|PMID:31054490|PMID:31402610|PMID:31487502|PMID:31618753|PMID:31625145|PMID:31887642|PMID:31904124|PMID:32040247|PMID:32651551|PMID:32725632|PMID:32901917|PMID:32916281|PMID:32920374|PMID:33004838|PMID:33201365|PMID:33827760|PMID:33851778|PMID:34431999|PMID:9536098 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:12374766|PMID:15525788|PMID:15800189|PMID:16199547|PMID:17576681|PMID:17881658|PMID:18414213|PMID:19254928|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:24194747|PMID:24352161|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25227913|PMID:25239001|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:25799905|PMID:25849321|PMID:25914188|PMID:25951352|PMID:26029160|PMID:26220391|PMID:26235739|PMID:26252990|PMID:26297079|PMID:26467025|PMID:26544041|PMID:26647175|PMID:26677014|PMID:26900580|PMID:26993267|PMID:27210545|PMID:27375106|PMID:27659738|PMID:27779742|PMID:27781031|PMID:27864847|PMID:27875746|PMID:27900360|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28676574|PMID:28702509|PMID:28735751|PMID:28923014|PMID:29056246|PMID:29100083|PMID:29121005|PMID:29186148|PMID:29263050|PMID:29356177|PMID:29432985|PMID:29588952|PMID:29655203|PMID:29720203|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30171078|PMID:30185235|PMID:30314295|PMID:30615093|PMID:30951195|PMID:30968951|PMID:31026061|PMID:31054490|PMID:31402610|PMID:31487502|PMID:31618753|PMID:31625145|PMID:31675620|PMID:31887642|PMID:31904124|PMID:32040247|PMID:32651551|PMID:32725632|PMID:32901917|PMID:32916281|PMID:32920374|PMID:33004838|PMID:33201365|PMID:33827760|PMID:33851778|PMID:34431999|PMID:9536098 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:0112367 Coffin-Siris syndrome 8 ISO RGD:1351349 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 8 PMID:25741868 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:1059 intellectual disability ISO RGD:1351349 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:28492532 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:1059 intellectual disability ISO RGD:1351349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:27900360|PMID:28492532|PMID:30109124 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:11832 visual epilepsy ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26993267|PMID:28492532|PMID:29432985|PMID:31625145|PMID:32581362 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:12849 autistic disorder ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:25741868|PMID:28492532 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:1824 status epilepticus ISO RGD:1351349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19306853 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:1826 epilepsy ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:26677014|PMID:26993267|PMID:27864847|PMID:28492532|PMID:28923014|PMID:29432985|PMID:30171078|PMID:30615093|PMID:31625145 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:1826 epilepsy ISO RGD:1351349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:18414213|PMID:24888894|PMID:25741868|PMID:26677014|PMID:26993267|PMID:27210545|PMID:27864847|PMID:28492532|PMID:28923014|PMID:29432985|PMID:30171078|PMID:30185235|PMID:30615093|PMID:31625145|PMID:32581362 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:2234 focal epilepsy ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal epilepsy | ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness PMID:18414213|PMID:25741868|PMID:27210545|PMID:28492532 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:3327 partial motor epilepsy ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal clonic seizure PMID:25741868 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:3652 Leigh disease ISO RGD:1351349 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:6000 congestive heart failure ISO RGD:3638 D RGD:9068941 20200609 RGD mRNA:increased expression:ventricle myocardium PMID:19584134|REF_RGD_ID:6484224 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:630 genetic disease ISO RGD:1351349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10798388|PMID:12374766|PMID:15525788|PMID:15800189|PMID:17881658|PMID:18414213|PMID:19254928|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:24194747|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25326635|PMID:25326637|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:26029160|PMID:26220391|PMID:26235739|PMID:26467025|PMID:26680202|PMID:26900580|PMID:26993267|PMID:27779742|PMID:27875746|PMID:28492532|PMID:28702509|PMID:28735751|PMID:28923014|PMID:29100083|PMID:29186148|PMID:29356177|PMID:29588952|PMID:29720203|PMID:29924869|PMID:29933521|PMID:30171078|PMID:31026061|PMID:31054490|PMID:31887642|PMID:32040247|PMID:32651551|PMID:33004838|PMID:33201365|PMID:34431999 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:863 nervous system disease ISO RGD:1351349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15170223 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9000495 Tremor ISO RGD:1351349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19261867 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1351349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:25741868|PMID:28492532 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9001793 Generalized Epilepsy ISO RGD:1351349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:24888894|PMID:25568300|PMID:25741868|PMID:25951352|PMID:26029160|PMID:26900580|PMID:27864847|PMID:27900360|PMID:28492532|PMID:28923014|PMID:30109124|PMID:30171078|PMID:30615093 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9002512 Postherpetic Neuralgia ISO RGD:1351349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23382806 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9002704 Leukoencephalopathies ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy PMID:25741868|PMID:28492532 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9002834 Herpesviridae Infections ISO RGD:1351349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23382806 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9003930 Familial Myoclonus 2 ISO RGD:1351349 D RGD:7240710 20190501 OMIM 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9003930 Familial Myoclonus 2 ISO RGD:1351349 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoclonus, familial, 2 PMID:25741868|PMID:26467025|PMID:27875746|PMID:28492532|PMID:29726066 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9004866 Ataxia ISO RGD:1351349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19261867 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9007 sudden infant death syndrome ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9007956 Febrile Seizures ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Febrile seizures PMID:25741868|PMID:28492532 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9008086 Developmental Disabilities ISO RGD:1351349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25725044|PMID:25741868|PMID:27900360|PMID:28492532|PMID:30109124|PMID:31625145|PMID:32581362 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9008255 Cognitive Impairment with or Without Cerebellar Ataxia ISO RGD:1351349 D RGD:7240710 20180130 OMIM 12363807 SCN8A sodium voltage-gated channel alpha subunit 8 gene DOID:9008255 Cognitive Impairment with or Without Cerebellar Ataxia ISO RGD:1351349 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA | ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia PMID:12374766|PMID:16236810|PMID:17881658|PMID:22365152|PMID:25326635|PMID:25326637|PMID:25741868|PMID:25785782|PMID:26235739|PMID:26467025|PMID:26993267|PMID:27659738|PMID:27779742|PMID:27875746|PMID:28492532|PMID:28702509|PMID:28923014|PMID:29100083|PMID:29186148|PMID:29720203|PMID:30171078|PMID:30868116|PMID:30968951|PMID:31618753|PMID:31780880|PMID:33201365|PMID:33851778 12363855 COX4I1 cytochrome c oxidase subunit 4I1 gene DOID:11801 protein-energy malnutrition ISO RGD:68374 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:18725894|REF_RGD_ID:2301376 12363855 COX4I1 cytochrome c oxidase subunit 4I1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:68539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12363855 COX4I1 cytochrome c oxidase subunit 4I1 gene DOID:630 genetic disease ISO RGD:68539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363855 COX4I1 cytochrome c oxidase subunit 4I1 gene DOID:9001257 Mitochondrial Complex IV Deficiency, Nuclear Type 16 ISO RGD:68539 D RGD:7240710 20201111 OMIM 12363855 COX4I1 cytochrome c oxidase subunit 4I1 gene DOID:9001257 Mitochondrial Complex IV Deficiency, Nuclear Type 16 ISO RGD:68539 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 PMID:25741868|PMID:28492532|PMID:31290619 12363864 AARS1 alanyl-tRNA synthetase 1 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 12363864 AARS1 alanyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:17576681|PMID:20045102|PMID:22009580|PMID:22206013|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25783436|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28166811|PMID:28492532|PMID:28493438|PMID:29653220|PMID:30124830|PMID:30373780|PMID:32314272|PMID:33909043|PMID:9536098 12363864 AARS1 alanyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312500 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:16199547|PMID:17576681|PMID:20045102|PMID:22009580|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25326637|PMID:25741868|PMID:25783436|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28492532|PMID:28493438|PMID:29653220|PMID:30124830|PMID:30373780|PMID:31791873|PMID:32314272|PMID:32376792|PMID:32403337|PMID:32571458|PMID:33294374|PMID:33909043|PMID:9536098 12363864 AARS1 alanyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312500 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:16199547|PMID:17576681|PMID:20045102|PMID:22009580|PMID:22206013|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28166811|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30373780|PMID:31791873|PMID:31827005|PMID:32314272|PMID:32376792|PMID:32571458|PMID:33294374|PMID:33753480|PMID:33909043|PMID:34446925|PMID:6492094|PMID:9536098 12363864 AARS1 alanyl-tRNA synthetase 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12363864 AARS1 alanyl-tRNA synthetase 1 gene DOID:0080451 developmental and epileptic encephalopathy 29 ISO RGD:1312500 D RGD:7240710 20180130 OMIM 12363864 AARS1 alanyl-tRNA synthetase 1 gene DOID:0080451 developmental and epileptic encephalopathy 29 ISO RGD:1312500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 29 PMID:25741868|PMID:25817015|PMID:28492532|PMID:28493438|PMID:29653220|PMID:31791873|PMID:33294374 12363864 AARS1 alanyl-tRNA synthetase 1 gene DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids PMID:31775912|PMID:6595937 12363864 AARS1 alanyl-tRNA synthetase 1 gene DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N ISO RGD:1312500 D RGD:7240710 20180130 OMIM 12363864 AARS1 alanyl-tRNA synthetase 1 gene DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N ISO RGD:1312500 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2N PMID:17576681|PMID:20045102|PMID:22009580|PMID:22206013|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25741868|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27993330|PMID:28492532|PMID:28902413|PMID:29653220|PMID:30124830|PMID:31827005|PMID:32314272|PMID:32376792|PMID:9536098 12363864 AARS1 alanyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1312500 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:17576681|PMID:20045102|PMID:22009580|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25783436|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27549087|PMID:28492532|PMID:29653220|PMID:32314272|PMID:32376792|PMID:32403337|PMID:33294374|PMID:9536098 12363864 AARS1 alanyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1312500 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:17576681|PMID:20045102|PMID:22009580|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27549087|PMID:28492532|PMID:29653220|PMID:30124830|PMID:32314272|PMID:32376792|PMID:33294374|PMID:33753480|PMID:9536098 12363864 AARS1 alanyl-tRNA synthetase 1 gene DOID:11836 clubfoot ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868 12363864 AARS1 alanyl-tRNA synthetase 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1312500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:28492532 12363864 AARS1 alanyl-tRNA synthetase 1 gene DOID:574 peripheral nervous system disease ISO RGD:1312500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:27993330|PMID:28492532|PMID:29653220|PMID:30124830|PMID:31827005 12363864 AARS1 alanyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1312500 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:22009580|PMID:22206013|PMID:25025039|PMID:25741868|PMID:25817015|PMID:26257172|PMID:26752306|PMID:27993330|PMID:28166811|PMID:28492532|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30373780|PMID:31827005|PMID:32376792|PMID:33294374|PMID:9536098 12363864 AARS1 alanyl-tRNA synthetase 1 gene DOID:870 neuropathy ISO RGD:1312500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:27993330|PMID:28492532|PMID:29653220|PMID:30124830|PMID:31827005 12363864 AARS1 alanyl-tRNA synthetase 1 gene DOID:9002363 Nonphotosensitive Trichothiodystrophy 8 ISO RGD:1312500 D RGD:7240710 20220112 OMIM 12363864 AARS1 alanyl-tRNA synthetase 1 gene DOID:9002363 Nonphotosensitive Trichothiodystrophy 8 ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 8, nonphotosensitive PMID:28492532|PMID:33909043|PMID:6492094 12363864 AARS1 alanyl-tRNA synthetase 1 gene DOID:9008175 Hereditary Diffuse Leukoencephalopathy with Spheroids 2 ISO RGD:1312500 D RGD:7240710 20220112 OMIM 12363864 AARS1 alanyl-tRNA synthetase 1 gene DOID:9008175 Hereditary Diffuse Leukoencephalopathy with Spheroids 2 ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy, hereditary diffuse, with spheroids 2 PMID:31775912|PMID:6595937 12363892 SPAG5 sperm associated antigen 5 gene DOID:0080600 COVID-19 ISO RGD:736242 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12363892 SPAG5 sperm associated antigen 5 gene DOID:4362 cervical cancer severity ISO RGD:736242 D RGD:9068941 20230128 RGD mRNA, protein:increased expression:cervix (human) PMID:35853859|REF_RGD_ID:155882439 12363892 SPAG5 sperm associated antigen 5 gene DOID:630 genetic disease ISO RGD:736242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363892 SPAG5 sperm associated antigen 5 gene DOID:9003281 Spontaneous Abortions ISO RGD:736242 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12363922 EGFL8 EGF like domain multiple 8 gene DOID:0050553 JMP syndrome ISO RGD:1347289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12363922 EGFL8 EGF like domain multiple 8 gene DOID:630 genetic disease ISO RGD:1347289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363944 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:0060903 thrombosis ISO RGD:68653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24213632 12363944 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:68653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12363944 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:1070 primary open angle glaucoma ISO RGD:68654 D RGD:9068941 20220825 MouseDO OMIM:137760 12363944 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:10763 hypertension ISO RGD:68653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18339647 12363944 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:3393 coronary artery disease ISO RGD:68653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22751097 12363944 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:5844 myocardial infarction ISO RGD:68653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1 PMID:24213632 12363944 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:630 genetic disease ISO RGD:68653 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363944 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:68653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12363944 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:68653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12363944 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:9005526 Pulmonary Edema of Mountaineers ISO RGD:68653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25373139 12363944 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:9005580 Moyamoya Disease 1 ISO RGD:68653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MYMY1 PMID:26777256 12363944 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:9007087 Moyamoya Disease 6 with Achalasia ISO RGD:68653 D RGD:7240710 20180130 OMIM 12363944 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:9007087 Moyamoya Disease 6 with Achalasia ISO RGD:68653 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Moyamoya disease 6 with achalasia PMID:24581742|PMID:25741868|PMID:26777256|PMID:28492532 12363971 ARHGEF5 Rho guanine nucleotide exchange factor 5 gene DOID:630 genetic disease ISO RGD:735723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12363971 ARHGEF5 Rho guanine nucleotide exchange factor 5 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:735723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29054765 12363971 ARHGEF5 Rho guanine nucleotide exchange factor 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12363971 ARHGEF5 Rho guanine nucleotide exchange factor 5 gene DOID:9005172 Lung Neoplasms ISO RGD:735723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29054765 12364000 NPAS4 neuronal PAS domain protein 4 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:734007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 12364000 NPAS4 neuronal PAS domain protein 4 gene DOID:1059 intellectual disability ISO RGD:734007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12364000 NPAS4 neuronal PAS domain protein 4 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:734007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12364000 NPAS4 neuronal PAS domain protein 4 gene DOID:2746 glycogen storage disease V ISO RGD:734007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12364000 NPAS4 neuronal PAS domain protein 4 gene DOID:630 genetic disease ISO RGD:734007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364000 NPAS4 neuronal PAS domain protein 4 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:734007 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12364000 NPAS4 neuronal PAS domain protein 4 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:734007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12364012 OVOL1 ovo like transcriptional repressor 1 gene DOID:1059 intellectual disability ISO RGD:1315865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12364012 OVOL1 ovo like transcriptional repressor 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1315865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12364012 OVOL1 ovo like transcriptional repressor 1 gene DOID:2746 glycogen storage disease V ISO RGD:1315865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12364012 OVOL1 ovo like transcriptional repressor 1 gene DOID:3310 atopic dermatitis ISO RGD:1315865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23042114 12364012 OVOL1 ovo like transcriptional repressor 1 gene DOID:5374 pilomatrixoma ISO RGD:1315865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26873447 12364012 OVOL1 ovo like transcriptional repressor 1 gene DOID:630 genetic disease ISO RGD:1315865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364012 OVOL1 ovo like transcriptional repressor 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1315865 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12364012 OVOL1 ovo like transcriptional repressor 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1315865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 12364020 NDNF neuron derived neurotrophic factor gene DOID:289 endometriosis ISO RGD:1606239 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12364020 NDNF neuron derived neurotrophic factor gene DOID:630 genetic disease ISO RGD:1606239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364020 NDNF neuron derived neurotrophic factor gene DOID:9001845 Hypogonadotropic Hypogonadism 25 with Anosmia ISO RGD:1606239 D RGD:7240710 20200408 OMIM 12364020 NDNF neuron derived neurotrophic factor gene DOID:9001845 Hypogonadotropic Hypogonadism 25 with Anosmia ISO RGD:1606239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 25 with anosmia PMID:25741868|PMID:31883645 12364020 NDNF neuron derived neurotrophic factor gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1606239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 12364020 NDNF neuron derived neurotrophic factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12364031 RALY RALY heterogeneous nuclear ribonucleoprotein gene DOID:2843 long QT syndrome ISO RGD:1316295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12364031 RALY RALY heterogeneous nuclear ribonucleoprotein gene DOID:630 genetic disease ISO RGD:1316295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364031 RALY RALY heterogeneous nuclear ribonucleoprotein gene DOID:670 amphetamine abuse ISO RGD:1316295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12364063 MMAB metabolism of cobalamin associated B gene DOID:0050452 mevalonic aciduria ISO RGD:1347796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mevalonic aciduria PMID:23707710|PMID:24033266|PMID:25741868|PMID:28492532 12364063 MMAB metabolism of cobalamin associated B gene DOID:0060743 methylmalonic acidemia cblB type ISO RGD:1347796 D RGD:7240710 20180130 OMIM 12364063 MMAB metabolism of cobalamin associated B gene DOID:0060743 methylmalonic acidemia cblB type ISO RGD:1347796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblB type PMID:12471062|PMID:15044458|PMID:15523652|PMID:15781192|PMID:16199547|PMID:16311595|PMID:16410054|PMID:16439175|PMID:17176040|PMID:17410422|PMID:17576681|PMID:17948227|PMID:17957493|PMID:18251506|PMID:18452306|PMID:19625202|PMID:20301409|PMID:20549364|PMID:20556797|PMID:20696242|PMID:21048060|PMID:21604717|PMID:22614770|PMID:22695176|PMID:23674520|PMID:23707710|PMID:24033266|PMID:24059531|PMID:24516753|PMID:24813872|PMID:25525159|PMID:25741868|PMID:25760844|PMID:26589311|PMID:27591164|PMID:28468868|PMID:28492532|PMID:29039164|PMID:29197662|PMID:30022420|PMID:30041674|PMID:30712249|PMID:31260114|PMID:31622506|PMID:33453710|PMID:33552909|PMID:34796408|PMID:9536098 12364063 MMAB metabolism of cobalamin associated B gene DOID:0081329 glycogen storage disease I ISO RGD:1347796 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency PMID:24033266|PMID:25741868|PMID:28492532 12364063 MMAB metabolism of cobalamin associated B gene DOID:14749 methylmalonic acidemia ISO RGD:1347796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:12471062|PMID:15523652|PMID:15781192|PMID:16199547|PMID:16311595|PMID:16410054|PMID:16439175|PMID:17410422|PMID:17576681|PMID:17948227|PMID:17957493|PMID:19625202|PMID:20301409|PMID:20556797|PMID:20696242|PMID:21048060|PMID:21604717|PMID:22614770|PMID:22695176|PMID:23707710|PMID:24033266|PMID:24059531|PMID:24516753|PMID:24813872|PMID:25525159|PMID:25741868|PMID:26589311|PMID:28492532|PMID:29039164|PMID:29197662|PMID:30022420|PMID:31260114|PMID:34796408|PMID:9536098 12364063 MMAB metabolism of cobalamin associated B gene DOID:2749 glycogen storage disease Ia ISO RGD:1347796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatorenal form of glycogen storage disease PMID:24033266|PMID:25741868|PMID:28492532 12364063 MMAB metabolism of cobalamin associated B gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1347796 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:24033266|PMID:25741868|PMID:28492532 12364063 MMAB metabolism of cobalamin associated B gene DOID:630 genetic disease ISO RGD:1347796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12471062|PMID:15044458|PMID:15781192|PMID:16311595|PMID:16410054|PMID:16439175|PMID:17176040|PMID:17576681|PMID:17948227|PMID:17957493|PMID:18251506|PMID:19625202|PMID:20301409|PMID:20556797|PMID:20696242|PMID:21048060|PMID:22614770|PMID:23674520|PMID:23707710|PMID:24059531|PMID:25741868|PMID:27591164|PMID:28468868|PMID:28492532|PMID:29197662|PMID:30022420|PMID:30712249|PMID:31260114|PMID:33453710|PMID:34796408|PMID:9536098 12364063 MMAB metabolism of cobalamin associated B gene DOID:655 inherited metabolic disorder ISO RGD:1347796 D RGD:9068941 20200609 RGD methylmalonic aciduria, cblB type, OMIM:251110 PMID:12471062|REF_RGD_ID:1600420 12364063 MMAB metabolism of cobalamin associated B gene DOID:9000408 Porokeratosis 3, Multiple Types ISO RGD:1347796 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: POROKERATOSIS 3, MULTIPLE TYPES | ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1 PMID:24033266|PMID:25741868|PMID:26202976|PMID:28492532 12364088 BIN2 bridging integrator 2 gene DOID:630 genetic disease ISO RGD:1315604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364109 PDE4D phosphodiesterase 4D gene DOID:0080297 Coffin-Siris syndrome 6 ISO RGD:736102 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 6 PMID:25741868 12364109 PDE4D phosphodiesterase 4D gene DOID:10485 esophageal atresia ISO RGD:736102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12364109 PDE4D phosphodiesterase 4D gene DOID:1059 intellectual disability ISO RGD:736102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12364109 PDE4D phosphodiesterase 4D gene DOID:14669 acrodysostosis ISO RGD:736102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrodysostosis PMID:25741868|PMID:28492532 12364109 PDE4D phosphodiesterase 4D gene DOID:1596 depressive disorder ISO RGD:3281 D RGD:9068941 20200609 RGD PMID:22487514|REF_RGD_ID:7327149 12364109 PDE4D phosphodiesterase 4D gene DOID:224 transient cerebral ischemia ISO RGD:3281 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus CA1 PMID:22860212|REF_RGD_ID:7327148 12364109 PDE4D phosphodiesterase 4D gene DOID:2841 asthma ISO RGD:736102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19426955|PMID:21611147 12364109 PDE4D phosphodiesterase 4D gene DOID:630 genetic disease ISO RGD:736102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12364109 PDE4D phosphodiesterase 4D gene DOID:670 amphetamine abuse ISO RGD:736102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12364109 PDE4D phosphodiesterase 4D gene DOID:9000998 Brain Injuries ISO RGD:3281 D RGD:9068941 20200609 RGD mRNA, protein:alternative form, decreased phosphorylation:brain PMID:23057870|REF_RGD_ID:7327147 12364109 PDE4D phosphodiesterase 4D gene DOID:9002304 Prostatic Neoplasms ISO RGD:736102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16740699|PMID:29662167 12364109 PDE4D phosphodiesterase 4D gene DOID:9002649 Acrodysostosis 2, with or without Hormone Resistance ISO RGD:736102 D RGD:7240710 20180130 OMIM 12364109 PDE4D phosphodiesterase 4D gene DOID:9002649 Acrodysostosis 2, with or without Hormone Resistance ISO RGD:736102 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance PMID:11200992|PMID:12121997|PMID:15025561|PMID:21681106|PMID:22464250|PMID:23033274|PMID:24033266|PMID:24203977|PMID:25044890|PMID:25064455|PMID:25741868|PMID:28492532|PMID:30006632 12364109 PDE4D phosphodiesterase 4D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12364109 PDE4D phosphodiesterase 4D gene DOID:9007096 Stroke ISO RGD:3281 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, leukocyte PMID:17922411|REF_RGD_ID:2313907 12364109 PDE4D phosphodiesterase 4D gene DOID:9007096 Stroke ISO RGD:736102 D RGD:9068941 20200609 RGD PMID:14517540|PMID:16675738|PMID:16825591|PMID:16914755|REF_RGD_ID:1581003|REF_RGD_ID:1581004|REF_RGD_ID:1581005|REF_RGD_ID:1581007 12364178 RPAP1 RNA polymerase II associated protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1342806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12364178 RPAP1 RNA polymerase II associated protein 1 gene DOID:630 genetic disease ISO RGD:1342806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364178 RPAP1 RNA polymerase II associated protein 1 gene DOID:9256 colorectal cancer ISO RGD:1342806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12364211 HDC histidine decarboxylase gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:736253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tourette syndrome PMID:20445167|PMID:24411733|PMID:25741868 12364211 HDC histidine decarboxylase gene DOID:11119 Gilles de la Tourette syndrome susceptibility ISO RGD:736253 D RGD:7240710 20230505 OMIM 12364211 HDC histidine decarboxylase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:10706 D RGD:9068941 20200609 RGD PMID:17158962|REF_RGD_ID:5143920 12364211 HDC histidine decarboxylase gene DOID:2717 Bloom syndrome ISO RGD:736253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12364211 HDC histidine decarboxylase gene DOID:2841 asthma ISO RGD:736253 D RGD:9068941 20200609 RGD associated with Rhinitis;DNA:SNP: :p.E644D (rs2073440) (human) PMID:20608921|REF_RGD_ID:5128884 12364211 HDC histidine decarboxylase gene DOID:4483 rhinitis ISO RGD:2790 D RGD:9068941 20200609 RGD PMID:15054596|REF_RGD_ID:5143921 12364211 HDC histidine decarboxylase gene DOID:4483 rhinitis ISO RGD:736253 D RGD:9068941 20200609 RGD DNA:SNP: :p.E644D (rs2073440) (human) PMID:20608921|REF_RGD_ID:5128884 12364211 HDC histidine decarboxylase gene DOID:552 pneumonia ISO RGD:10706 D RGD:9068941 20200609 RGD PMID:14556983|REF_RGD_ID:5143922 12364211 HDC histidine decarboxylase gene DOID:630 genetic disease ISO RGD:736253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364211 HDC histidine decarboxylase gene DOID:9005369 Hepatomegaly ISO RGD:736253 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12364211 HDC histidine decarboxylase gene DOID:9008527 Chlamydophila Infections ISO RGD:10706 D RGD:9068941 20200609 RGD PMID:14556983|REF_RGD_ID:5143922 12364211 HDC histidine decarboxylase gene DOID:9256 colorectal cancer ISO RGD:736253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12364227 OTP orthopedia homeobox gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1345021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 12364227 OTP orthopedia homeobox gene DOID:630 genetic disease ISO RGD:1345021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364227 OTP orthopedia homeobox gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12364232 SOX8 SRY-box transcription factor 8 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1319208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12364232 SOX8 SRY-box transcription factor 8 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1319208 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12364232 SOX8 SRY-box transcription factor 8 gene DOID:1826 epilepsy ISO RGD:1319208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12364232 SOX8 SRY-box transcription factor 8 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12364232 SOX8 SRY-box transcription factor 8 gene DOID:574 peripheral nervous system disease ISO RGD:1319208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 12364232 SOX8 SRY-box transcription factor 8 gene DOID:630 genetic disease ISO RGD:1319208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364232 SOX8 SRY-box transcription factor 8 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:1319208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:0050854 Muckle-Wells syndrome ISO RGD:1318014 D RGD:7240710 20180130 OMIM 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:0050854 Muckle-Wells syndrome ISO RGD:1318014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar Annotator: match by term: UDA syndrome PMID:11687797|PMID:11992256|PMID:12032915|PMID:12355493|PMID:12522564|PMID:14630794|PMID:14872505|PMID:15020601|PMID:15593220|PMID:16100350|PMID:16255047|PMID:16646042|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17393462|PMID:17509468|PMID:18263599|PMID:18311798|PMID:19319132|PMID:19501000|PMID:20159265|PMID:20182451|PMID:20472245|PMID:21058222|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:21702021|PMID:22128899|PMID:22193915|PMID:22403613|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22843550|PMID:22935299|PMID:23015306|PMID:23421920|PMID:23442610|PMID:23703389|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24365011|PMID:24431285|PMID:24517500|PMID:24649046|PMID:24759409|PMID:24773462|PMID:25038238|PMID:25586466|PMID:25596455|PMID:25639832|PMID:25730877|PMID:25741868|PMID:25766347|PMID:25821352|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26590045|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27612399|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27994174|PMID:28028683|PMID:28137891|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29159471|PMID:29322034|PMID:29922587|PMID:29977033|PMID:30214525|PMID:30407166|PMID:30431487|PMID:30808881|PMID:32082075|PMID:32199921|PMID:33329557|PMID:49161 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:0060500 drug allergy ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19767079 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1318015 D RGD:9068941 20220825 MouseDO OMIM:613282 | OMIM:613387 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:0080270 autosomal dominant nonsyndromic deafness 34 ISO RGD:1318014 D RGD:7240710 20190315 OMIM 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:0080270 autosomal dominant nonsyndromic deafness 34 ISO RGD:1318014 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 34, with or without inflammation PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27612399|PMID:27994174|PMID:28492532|PMID:28692792|PMID:28847925|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:33329557|PMID:49161 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1318014 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:28492532 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1318014 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:0090029 CINCA syndrome ISO RGD:1318014 D RGD:7240710 20180808 OMIM 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:0090029 CINCA syndrome ISO RGD:1318014 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3 | ClinVar Annotator: match by term: Chronic Infantile Neurological Cutaneous Articular syndrome | ClinVar Annotator: match by term: Chronic infantile neurological, cutaneous and articular syndrome | ClinVar Annotator: match by term: Prieur Griscelli syndrome PMID:11687797|PMID:11992256|PMID:12032915|PMID:12355493|PMID:12522564|PMID:14630794|PMID:14872505|PMID:15020601|PMID:15593220|PMID:15801036|PMID:16081838|PMID:16100350|PMID:16255047|PMID:16449034|PMID:16871551|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17393462|PMID:17509468|PMID:17576681|PMID:18080732|PMID:18263599|PMID:18311798|PMID:19319132|PMID:19501000|PMID:20159265|PMID:20182451|PMID:20472245|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:21702021|PMID:22128899|PMID:22193915|PMID:22403613|PMID:22512814|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22661645|PMID:22843550|PMID:22935299|PMID:23015306|PMID:23421920|PMID:23442610|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24365011|PMID:24431285|PMID:24517500|PMID:24649046|PMID:24759409|PMID:24773462|PMID:25038238|PMID:25417688|PMID:25586466|PMID:25596455|PMID:25639832|PMID:25730877|PMID:25732894|PMID:25741868|PMID:25766347|PMID:25821352|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26590045|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27134254|PMID:27612399|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27994174|PMID:28028683|PMID:28137891|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28692792|PMID:28956000|PMID:29047407|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29159471|PMID:29163488|PMID:29239927|PMID:29922587|PMID:29977033|PMID:30214525|PMID:30407166|PMID:30431487|PMID:30808881|PMID:31155445|PMID:32082075|PMID:32199921|PMID:33329557|PMID:49161|PMID:5173311|PMID:9536098 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:0090061 familial cold autoinflammatory syndrome ISO RGD:1318014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28492532|PMID:28692792|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:49161 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:0090062 familial cold autoinflammatory syndrome 1 ISO RGD:1318014 D RGD:7240710 20180130 OMIM 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:0090062 familial cold autoinflammatory syndrome 1 ISO RGD:1318014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1 | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 1 PMID:11687797|PMID:11992256|PMID:12032915|PMID:12355493|PMID:12483741|PMID:12522564|PMID:14630794|PMID:14872505|PMID:15020601|PMID:15231984|PMID:15334500|PMID:15593220|PMID:15724022|PMID:15801036|PMID:16081838|PMID:16100350|PMID:16255047|PMID:16449034|PMID:16646042|PMID:16802372|PMID:16871551|PMID:16920754|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17284928|PMID:17393462|PMID:17509468|PMID:17513575|PMID:18063752|PMID:18080732|PMID:18174231|PMID:18263599|PMID:18311798|PMID:19319132|PMID:19501000|PMID:20131270|PMID:20159265|PMID:20182451|PMID:20472245|PMID:21058222|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:21637346|PMID:21702021|PMID:22128899|PMID:22193915|PMID:22403613|PMID:22512814|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22661645|PMID:22843550|PMID:22935299|PMID:23015306|PMID:23421920|PMID:23442610|PMID:23703389|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24365011|PMID:24431285|PMID:24517500|PMID:24649046|PMID:24759409|PMID:24773462|PMID:25038238|PMID:25584041|PMID:25586466|PMID:25596455|PMID:25639832|PMID:25730877|PMID:25741868|PMID:25766347|PMID:25821352|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26590045|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27134254|PMID:27191192|PMID:27548431|PMID:27612399|PMID:27650144|PMID:27692610|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27994174|PMID:28028683|PMID:28079503|PMID:28137891|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28501347|PMID:28692792|PMID:29047407|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29152264|PMID:29159471|PMID:29163488|PMID:29322034|PMID:29378952|PMID:29922587|PMID:29977033|PMID:29988644|PMID:30069026|PMID:30214525|PMID:30311386|PMID:30338413|PMID:30407166|PMID:30431487|PMID:30808881|PMID:31172726|PMID:32082075|PMID:32199921|PMID:33020839|PMID:33329557|PMID:34099780|PMID:447320|PMID:49161|PMID:5173311 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1318014 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:12522564|PMID:17509468|PMID:18263599|PMID:18311798|PMID:19319132|PMID:20182451|PMID:21245836|PMID:21621776|PMID:22128899|PMID:22403613|PMID:22524199|PMID:22529966|PMID:22843550|PMID:22935299|PMID:24033266|PMID:24098386|PMID:24158955|PMID:24431285|PMID:24649046|PMID:25586466|PMID:25596455|PMID:25741868|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26273672|PMID:26467025|PMID:26535712|PMID:26848126|PMID:27036377|PMID:27060062|PMID:27819323|PMID:27943647|PMID:28028683|PMID:28137891|PMID:28185410|PMID:28492532|PMID:28692792|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29977033|PMID:30214525 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:10320 asbestosis ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:11396 pulmonary edema ISO RGD:1318014 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33012731 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:1308314 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1318014 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:12522564|PMID:17509468|PMID:18263599|PMID:18311798|PMID:19319132|PMID:20182451|PMID:21245836|PMID:21621776|PMID:22128899|PMID:22403613|PMID:22524199|PMID:22529966|PMID:22843550|PMID:22935299|PMID:24033266|PMID:24098386|PMID:24158955|PMID:24431285|PMID:24649046|PMID:25586466|PMID:25596455|PMID:25741868|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26273672|PMID:26467025|PMID:26535712|PMID:26848126|PMID:27036377|PMID:27060062|PMID:27819323|PMID:27943647|PMID:28028683|PMID:28137891|PMID:28185410|PMID:28492532|PMID:28692792|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29977033|PMID:30214525 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:1324 lung cancer ISO RGD:1318014 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1318014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:1555 urticaria susceptibility ISO RGD:1318014 D RGD:9068941 20200609 RGD familial cold autoinflammatory syndrome, OMIM:120100;DNA:missense mutations: :multiple PMID:11687797|REF_RGD_ID:1600862 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:1749 squamous cell carcinoma ISO RGD:1318014 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:2280 hidradenitis suppurativa ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:2377 multiple sclerosis ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25458313 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:2723 dermatitis ISO RGD:1318014 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dermatitis PMID:25741868 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1318014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:11687797|PMID:11992256|PMID:12355493|PMID:12522564|PMID:14630794|PMID:14872505|PMID:15020601|PMID:15593220|PMID:15801036|PMID:16100350|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17393462|PMID:17509468|PMID:17576681|PMID:18263599|PMID:18311798|PMID:19319132|PMID:20131270|PMID:20159265|PMID:20182451|PMID:20472245|PMID:21058222|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:22128899|PMID:22403613|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22843550|PMID:22935299|PMID:23421920|PMID:23442610|PMID:23703389|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24431285|PMID:24649046|PMID:24759409|PMID:25038238|PMID:25586466|PMID:25596455|PMID:25639832|PMID:25730877|PMID:25741868|PMID:25821352|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27134254|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27994174|PMID:28028683|PMID:28137891|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28692792|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29159471|PMID:29922587|PMID:29977033|PMID:30214525|PMID:30311386|PMID:30407166|PMID:30808881|PMID:32082075|PMID:32199921|PMID:447320|PMID:49161|PMID:5173311|PMID:9536098 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1318015 D RGD:9068941 20200618 RGD PMID:32365944|REF_RGD_ID:30309207 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:3044 food allergy ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19767079 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:3345 xanthomatosis exacerbates ISO RGD:1318015 D RGD:9068941 20210514 RGD associated with atherosclerosis PMID:30354239|REF_RGD_ID:126925206 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:3602 toxic encephalopathy ISO RGD:1318014 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:32014472 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1318014 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:557 kidney disease ISO RGD:1318014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:11687797|PMID:11992256|PMID:12355493|PMID:12522564|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:26020059|PMID:26218404|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28492532|PMID:28692792|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:49161 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:5844 myocardial infarction ameliorates ISO RGD:1308314 D RGD:9068941 20230330 RGD PMID:33389498|REF_RGD_ID:242905187 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:630 genetic disease ISO RGD:1318014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21058222|PMID:21109514|PMID:24033266|PMID:25741868|PMID:26386126|PMID:28492532 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:6543 acne ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:8553 pyoderma gangrenosum ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:8778 Crohn's disease ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19098911 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:9000972 Fever ISO RGD:1318014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fever 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:9004538 Hearing Loss ISO RGD:1318014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:15593220|PMID:25741868|PMID:28492532|PMID:29922587|PMID:30311386 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:9004610 Acute Lung Injury ISO RGD:1318014 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33012731 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:9004866 Ataxia ISO RGD:1318014 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:32014472 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:9005372 Inflammation ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12032915|PMID:22325453 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:9007278 Anaphylaxis ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19767079 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:9007692 Insulin Resistance ISO RGD:1318014 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:9007956 Febrile Seizures treatment ISO RGD:1308314 D RGD:9068941 20200609 RGD PMID:30947016|REF_RGD_ID:25823138 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:9007964 Arsenic Poisoning ISO RGD:1318014 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1318014 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar Annotator: match by term: Familial cold urticaria PMID:11687797|PMID:11992256|PMID:12032915|PMID:12355493|PMID:12522564|PMID:14630794|PMID:14872505|PMID:15020601|PMID:15231984|PMID:15593220|PMID:15724022|PMID:15801036|PMID:16081838|PMID:16100350|PMID:16255047|PMID:16802372|PMID:16920754|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17393462|PMID:17509468|PMID:17513575|PMID:17576681|PMID:18263599|PMID:18311798|PMID:19319132|PMID:19501000|PMID:20159265|PMID:20182451|PMID:20472245|PMID:21058222|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:22128899|PMID:22193915|PMID:22403613|PMID:22512814|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22661645|PMID:22843550|PMID:22935299|PMID:23015306|PMID:23421920|PMID:23442610|PMID:23703389|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24326009|PMID:24431285|PMID:24649046|PMID:24759409|PMID:24773462|PMID:25038238|PMID:25584041|PMID:25586466|PMID:25596455|PMID:25619352|PMID:25639832|PMID:25730877|PMID:25732894|PMID:25741868|PMID:25821352|PMID:25866490|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27134254|PMID:27191192|PMID:27612399|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27994174|PMID:28028683|PMID:28079503|PMID:28137891|PMID:28166811|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28692792|PMID:28847925|PMID:28956000|PMID:29047407|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29159471|PMID:29611406|PMID:29922587|PMID:29977033|PMID:30214525|PMID:30273710|PMID:30311386|PMID:30407166|PMID:30808881|PMID:31155445|PMID:32082075|PMID:32199921|PMID:33020839|PMID:33329557|PMID:49161|PMID:5173311|PMID:9536098 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1318014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar Annotator: match by term: Familial cold urticaria PMID:11687797|PMID:11992256|PMID:12032915|PMID:12355493|PMID:12483741|PMID:12522564|PMID:14630794|PMID:14872505|PMID:15020601|PMID:15231984|PMID:15334500|PMID:15593220|PMID:15724022|PMID:15801036|PMID:16081838|PMID:16100350|PMID:16255047|PMID:16802372|PMID:16871551|PMID:16920754|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17284928|PMID:17393462|PMID:17509468|PMID:17513575|PMID:17576681|PMID:18063752|PMID:18080732|PMID:18263599|PMID:18311798|PMID:19319132|PMID:19501000|PMID:20131254|PMID:20131270|PMID:20159265|PMID:20182451|PMID:20472245|PMID:21058222|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:21637346|PMID:21702021|PMID:22128899|PMID:22193915|PMID:22279087|PMID:22403613|PMID:22512814|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22661645|PMID:22843550|PMID:22935299|PMID:23015306|PMID:23421920|PMID:23442610|PMID:23703389|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24326009|PMID:24365011|PMID:24431285|PMID:24517500|PMID:24649046|PMID:24759409|PMID:24773462|PMID:25038238|PMID:25417688|PMID:25584041|PMID:25586466|PMID:25596455|PMID:25619352|PMID:25639832|PMID:25730877|PMID:25732894|PMID:25741868|PMID:25766347|PMID:25821352|PMID:25866490|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26590045|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27134254|PMID:27191192|PMID:27548431|PMID:27612399|PMID:27650144|PMID:27692610|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27994174|PMID:28028683|PMID:28079503|PMID:28137891|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28501347|PMID:28692792|PMID:28847925|PMID:28956000|PMID:29047407|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29152264|PMID:29159471|PMID:29163488|PMID:29239927|PMID:29322034|PMID:29378952|PMID:29611406|PMID:29922587|PMID:29977033|PMID:29988644|PMID:30069026|PMID:30214525|PMID:30273710|PMID:30311386|PMID:30338413|PMID:30407166|PMID:30431487|PMID:30808881|PMID:31135083|PMID:31155445|PMID:31172726|PMID:32082075|PMID:32199921|PMID:33020839|PMID:33329557|PMID:34099780|PMID:34868041|PMID:49161|PMID:5173311|PMID:9536098 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:9008610 Keratitis Fugax Hereditaria ISO RGD:1318014 D RGD:7240710 20200304 OMIM 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:9008610 Keratitis Fugax Hereditaria ISO RGD:1318014 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: KERATOENDOTHELIITIS FUGAX HEREDITARIA | ClinVar Annotator: match by term: Keratitis fugax hereditaria PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27612399|PMID:27994174|PMID:28492532|PMID:28692792|PMID:29159471|PMID:29366613|PMID:29922587|PMID:30407166|PMID:30808881|PMID:33329557|PMID:3604606|PMID:49161 12364239 NLRP3 NLR family pyrin domain containing 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12364261 SPATA20 spermatogenesis associated 20 gene DOID:0070311 oligoasthenoteratozoospermia ISO RGD:1623815 D RGD:9068941 20220825 MouseDO 12364261 SPATA20 spermatogenesis associated 20 gene DOID:630 genetic disease ISO RGD:1603970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364287 GLRA2 glycine receptor alpha 2 gene DOID:12849 autistic disorder ISO RGD:731909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12364287 GLRA2 glycine receptor alpha 2 gene DOID:630 genetic disease ISO RGD:731909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12364287 GLRA2 glycine receptor alpha 2 gene DOID:9001972 Syndromic X-Linked Intellectual Disability Pilorge type ISO RGD:731909 D RGD:7240710 20220427 OMIM 12364287 GLRA2 glycine receptor alpha 2 gene DOID:9001972 Syndromic X-Linked Intellectual Disability Pilorge type ISO RGD:731909 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type PMID:20479760|PMID:25741868|PMID:26370147|PMID:28588452|PMID:35294868 12364287 GLRA2 glycine receptor alpha 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12364310 ECM1 extracellular matrix protein 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1605731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12364310 ECM1 extracellular matrix protein 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12364310 ECM1 extracellular matrix protein 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605731 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12364310 ECM1 extracellular matrix protein 1 gene DOID:14498 lipoid proteinosis ISO RGD:1605731 D RGD:7240710 20180130 OMIM 12364310 ECM1 extracellular matrix protein 1 gene DOID:14498 lipoid proteinosis ISO RGD:1605731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lipid proteinosis PMID:11929856|PMID:12472532|PMID:12603844|PMID:15327549|PMID:16172042|PMID:17063986|PMID:17199583|PMID:17927570|PMID:24413997|PMID:24708644|PMID:25529926|PMID:25741868|PMID:26803878|PMID:28492532|PMID:28720532 12364310 ECM1 extracellular matrix protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1605731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12364310 ECM1 extracellular matrix protein 1 gene DOID:5812 MHC class II deficiency ISO RGD:1605731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12364310 ECM1 extracellular matrix protein 1 gene DOID:630 genetic disease ISO RGD:1605731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12364310 ECM1 extracellular matrix protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1605731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12364310 ECM1 extracellular matrix protein 1 gene DOID:8577 ulcerative colitis ISO RGD:1605731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438406 12364310 ECM1 extracellular matrix protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1605731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31472228 12364310 ECM1 extracellular matrix protein 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:1605731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12364310 ECM1 extracellular matrix protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12364324 C2CD6 C2 calcium dependent domain containing 6 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1345082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12364324 C2CD6 C2 calcium dependent domain containing 6 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1345082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12364324 C2CD6 C2 calcium dependent domain containing 6 gene DOID:0110983 Joubert syndrome 14 ISO RGD:1345082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 14 PMID:22152675|PMID:28492532 12364324 C2CD6 C2 calcium dependent domain containing 6 gene DOID:10283 prostate cancer ISO RGD:1345082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12364324 C2CD6 C2 calcium dependent domain containing 6 gene DOID:630 genetic disease ISO RGD:1345082 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364324 C2CD6 C2 calcium dependent domain containing 6 gene DOID:9000182 Spermatogenic Failure 68 ISO RGD:1345082 D RGD:7240710 20220330 OMIM 12364324 C2CD6 C2 calcium dependent domain containing 6 gene DOID:9000182 Spermatogenic Failure 68 ISO RGD:1345082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 68 PMID:31985809 12364324 C2CD6 C2 calcium dependent domain containing 6 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1345082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12364324 C2CD6 C2 calcium dependent domain containing 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12364324 C2CD6 C2 calcium dependent domain containing 6 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1345082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12364351 ASPDH aspartate dehydrogenase domain containing gene DOID:630 genetic disease ISO RGD:1605752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364362 ZCWPW2 zinc finger CW-type and PWWP domain containing 2 gene DOID:630 genetic disease ISO RGD:1347606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364380 OR5M10 olfactory receptor family 5 subfamily M member 10 gene DOID:1059 intellectual disability ISO RGD:1349395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12364380 OR5M10 olfactory receptor family 5 subfamily M member 10 gene DOID:630 genetic disease ISO RGD:1349395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364398 SLC25A41 solute carrier family 25 member 41 gene DOID:0080490 mucolipidosis type IV ISO RGD:1604180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12364398 SLC25A41 solute carrier family 25 member 41 gene DOID:630 genetic disease ISO RGD:1604180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364411 OPN5 opsin 5 gene DOID:630 genetic disease ISO RGD:737573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364434 OGFR opioid growth factor receptor gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12364434 OGFR opioid growth factor receptor gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:737296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12364434 OGFR opioid growth factor receptor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12364434 OGFR opioid growth factor receptor gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:737296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12364434 OGFR opioid growth factor receptor gene DOID:1826 epilepsy ISO RGD:737296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 12364434 OGFR opioid growth factor receptor gene DOID:630 genetic disease ISO RGD:737296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364482 APOC3 apolipoprotein C3 gene DOID:0060017 CD3epsilon deficiency ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12364482 APOC3 apolipoprotein C3 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12364482 APOC3 apolipoprotein C3 gene DOID:0080162 lupus nephritis ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17957542|REF_RGD_ID:7207211 12364482 APOC3 apolipoprotein C3 gene DOID:0080690 RASopathy ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12364482 APOC3 apolipoprotein C3 gene DOID:0080958 primary hypoalphalipoproteinemia 2 ISO RGD:737569 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Apolipoprotein A-I deficiency PMID:2506176|PMID:6800349 12364482 APOC3 apolipoprotein C3 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12364482 APOC3 apolipoprotein C3 gene DOID:0111123 nephronophthisis 15 ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 12364482 APOC3 apolipoprotein C3 gene DOID:0111370 apolipoprotein C-III deficiency ISO RGD:737569 D RGD:7240710 20180130 OMIM 12364482 APOC3 apolipoprotein C3 gene DOID:0111370 apolipoprotein C-III deficiency ISO RGD:737569 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Apolipoprotein c-III deficiency | ClinVar Annotator: match by term: Hyperalphalipoproteinemia 2 PMID:11060345|PMID:19074352|PMID:20097930|PMID:2022742|PMID:23701270|PMID:24941081|PMID:24941082|PMID:25225788|PMID:25962519|PMID:27114411|PMID:28406212|PMID:28492532|PMID:28825717|PMID:29237685|PMID:30255797|PMID:32041611|PMID:34548093 12364482 APOC3 apolipoprotein C3 gene DOID:0111971 immunodeficiency 18 ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12364482 APOC3 apolipoprotein C3 gene DOID:0111972 immunodeficiency 19 ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12364482 APOC3 apolipoprotein C3 gene DOID:0111973 immunodeficiency 17 ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12364482 APOC3 apolipoprotein C3 gene DOID:1059 intellectual disability ISO RGD:737569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12364482 APOC3 apolipoprotein C3 gene DOID:10603 glucose intolerance ISO RGD:737569 D RGD:9068941 20200609 RGD PMID:11959336|REF_RGD_ID:1578441 12364482 APOC3 apolipoprotein C3 gene DOID:10608 celiac disease ISO RGD:737569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 12364482 APOC3 apolipoprotein C3 gene DOID:1067 open-angle glaucoma ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression: aqueous humor: PMID:23860758|REF_RGD_ID:10054092 12364482 APOC3 apolipoprotein C3 gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome disease_progression ISO RGD:737569 D RGD:9068941 20200609 RGD PMID:20797315|REF_RGD_ID:7207210 12364482 APOC3 apolipoprotein C3 gene DOID:1168 familial hyperlipidemia treatment ISO RGD:10179 D RGD:9068941 20200609 RGD PMID:23542898|REF_RGD_ID:10054091 12364482 APOC3 apolipoprotein C3 gene DOID:1184 nephrotic syndrome ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8366982|REF_RGD_ID:2313970 12364482 APOC3 apolipoprotein C3 gene DOID:1287 cardiovascular system disease ISO RGD:737569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16544732 12364482 APOC3 apolipoprotein C3 gene DOID:13580 cholestasis ISO RGD:2136 D RGD:9068941 20200609 RGD PMID:17201892|REF_RGD_ID:10054045 12364482 APOC3 apolipoprotein C3 gene DOID:13809 familial combined hyperlipidemia ISO RGD:10179 D RGD:9068941 20200609 RGD PMID:15863838|REF_RGD_ID:1601225 12364482 APOC3 apolipoprotein C3 gene DOID:13809 familial combined hyperlipidemia ISO RGD:737569 D RGD:9068941 20200609 RGD DNA:haplotype, snp:3' utr:g.3175G>C (human) PMID:9062353|REF_RGD_ID:5685674 12364482 APOC3 apolipoprotein C3 gene DOID:13809 familial combined hyperlipidemia no_association ISO RGD:737569 D RGD:9068941 20200609 RGD DNA:haplotype, snp:3' utr:g.3175G>C (human) PMID:9812922|REF_RGD_ID:5685676 12364482 APOC3 apolipoprotein C3 gene DOID:1459 hypothyroidism ISO RGD:2136 D RGD:9068941 20200609 RGD PMID:8429259|REF_RGD_ID:1599190 12364482 APOC3 apolipoprotein C3 gene DOID:1561 cognitive disorder ISO RGD:737569 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; PMID:19424489|REF_RGD_ID:10054096 12364482 APOC3 apolipoprotein C3 gene DOID:1612 breast cancer disease_progression ISO RGD:737569 D RGD:9068941 20220908 RGD PMID:28715644|REF_RGD_ID:153350084 12364482 APOC3 apolipoprotein C3 gene DOID:2154 nephroblastoma ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22160518|REF_RGD_ID:7207220 12364482 APOC3 apolipoprotein C3 gene DOID:2972 renal artery obstruction ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21613792|REF_RGD_ID:7207208 12364482 APOC3 apolipoprotein C3 gene DOID:3145 hyperlipoproteinemia type III ISO RGD:737569 D RGD:9068941 20200609 RGD PMID:2879788|REF_RGD_ID:1578447 12364482 APOC3 apolipoprotein C3 gene DOID:3393 coronary artery disease ISO RGD:737569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097064 12364482 APOC3 apolipoprotein C3 gene DOID:3393 coronary artery disease ISO RGD:737569 D RGD:9068941 20200609 RGD PMID:14709372|REF_RGD_ID:1578443 12364482 APOC3 apolipoprotein C3 gene DOID:3393 coronary artery disease ISO RGD:737569 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-482C>T, in women without Diabetes Mellitus, Type 2 (MeSH:D003924) PMID:15059615|REF_RGD_ID:1626412 12364482 APOC3 apolipoprotein C3 gene DOID:3717 gastric adenocarcinoma ISO RGD:737569 D RGD:9068941 20220901 RGD protein:decreased expression:serum PMID:21267442|REF_RGD_ID:153344621 12364482 APOC3 apolipoprotein C3 gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:737569 D RGD:9068941 20220908 RGD PMID:27002935|REF_RGD_ID:153350083 12364482 APOC3 apolipoprotein C3 gene DOID:3910 lung adenocarcinoma ISO RGD:737569 D RGD:9068941 20220901 RGD protein:altered glycosylation:: PMID:19322776|REF_RGD_ID:153344619 12364482 APOC3 apolipoprotein C3 gene DOID:5409 lung small cell carcinoma treatment ISO RGD:737569 D RGD:9068941 20220908 RGD PMID:26996551|REF_RGD_ID:11561502 12364482 APOC3 apolipoprotein C3 gene DOID:5844 myocardial infarction ISO RGD:737569 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to 12364482 APOC3 apolipoprotein C3 gene DOID:5844 myocardial infarction no_association ISO RGD:737569 D RGD:9068941 20200609 RGD PMID:10428310|REF_RGD_ID:1578442 12364482 APOC3 apolipoprotein C3 gene DOID:630 genetic disease ISO RGD:737569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364482 APOC3 apolipoprotein C3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737569 D RGD:9068941 20220908 RGD associated with hepatitis B; PMID:31211449|REF_RGD_ID:153350082 12364482 APOC3 apolipoprotein C3 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737569 D RGD:9068941 20220901 RGD associated with Chronic Hepatitis B;DNA:SNP: :rs2854116(human) PMID:27547913|REF_RGD_ID:153344620 12364482 APOC3 apolipoprotein C3 gene DOID:783 end stage renal disease ISO RGD:737569 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:8139482|REF_RGD_ID:2313968 12364482 APOC3 apolipoprotein C3 gene DOID:783 end stage renal disease ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:10822722|REF_RGD_ID:7207212 12364482 APOC3 apolipoprotein C3 gene DOID:784 chronic kidney disease ISO RGD:737569 D RGD:9068941 20200609 RGD PMID:21297177|REF_RGD_ID:7207209 12364482 APOC3 apolipoprotein C3 gene DOID:784 chronic kidney disease ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21829457|REF_RGD_ID:7207207 12364482 APOC3 apolipoprotein C3 gene DOID:7998 hyperthyroidism ISO RGD:2136 D RGD:9068941 20200609 RGD PMID:8429259|REF_RGD_ID:1599190 12364482 APOC3 apolipoprotein C3 gene DOID:8947 diabetic retinopathy severity ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15642486|REF_RGD_ID:2306768 12364482 APOC3 apolipoprotein C3 gene DOID:9000528 Coronary Disease ISO RGD:737569 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Coronary heart disease PMID:11060345|PMID:19074352|PMID:20097930|PMID:23701270|PMID:24941081|PMID:24941082|PMID:25225788|PMID:25962519|PMID:27114411|PMID:28406212|PMID:28492532|PMID:28825717|PMID:29237685|PMID:30255797|PMID:32041611|PMID:34548093 12364482 APOC3 apolipoprotein C3 gene DOID:9000528 Coronary Disease no_association ISO RGD:737569 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-482C>T PMID:16321685|REF_RGD_ID:1601224 12364482 APOC3 apolipoprotein C3 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:737569 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:17654446|REF_RGD_ID:2306754 12364482 APOC3 apolipoprotein C3 gene DOID:9000808 Hypercholesterolemia ISO RGD:737569 D RGD:9068941 20200609 RGD PMID:2879788|REF_RGD_ID:1578447 12364482 APOC3 apolipoprotein C3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737569 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-455T>C PMID:16813599|REF_RGD_ID:2306755 12364482 APOC3 apolipoprotein C3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:737569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12364482 APOC3 apolipoprotein C3 gene DOID:9004968 Yin Deficiency ISO RGD:2136 D RGD:9068941 20220908 RGD protein:decreased expression:serum PMID:27843478|REF_RGD_ID:153350089 12364482 APOC3 apolipoprotein C3 gene DOID:9005172 Lung Neoplasms ISO RGD:737569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19180532 12364482 APOC3 apolipoprotein C3 gene DOID:9005236 Drug Eruptions ISO RGD:737569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21055120 12364482 APOC3 apolipoprotein C3 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:737569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 12364482 APOC3 apolipoprotein C3 gene DOID:9006599 Hypertriglyceridemia ISO RGD:737569 D RGD:9068941 20200609 RGD PMID:7705829|REF_RGD_ID:1578444 12364482 APOC3 apolipoprotein C3 gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:737569 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent or Coronary Disease;DNA:polymorphism PMID:15715433|REF_RGD_ID:2306767 12364482 APOC3 apolipoprotein C3 gene DOID:9006646 Metabolic Syndrome ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:16298371|REF_RGD_ID:2306766 12364482 APOC3 apolipoprotein C3 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:737569 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-482C>T, -455T>C PMID:17416293|REF_RGD_ID:1601223 12364482 APOC3 apolipoprotein C3 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:737569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2022742 12364482 APOC3 apolipoprotein C3 gene DOID:9007661 Dwarfism ISO RGD:737569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12364482 APOC3 apolipoprotein C3 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:10179 D RGD:9068941 20200609 RGD PMID:15734841|REF_RGD_ID:1601226 12364482 APOC3 apolipoprotein C3 gene DOID:9007692 Insulin Resistance treatment ISO RGD:2136 D RGD:9068941 20200609 RGD PMID:15007394|REF_RGD_ID:1580750 12364482 APOC3 apolipoprotein C3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:737569 D RGD:9068941 20220901 RGD PMID:31502404|REF_RGD_ID:153344612 12364482 APOC3 apolipoprotein C3 gene DOID:9351 diabetes mellitus ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:2352345|REF_RGD_ID:2313973 12364482 APOC3 apolipoprotein C3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:2136 D RGD:9068941 20200609 RGD PMID:21670290|REF_RGD_ID:7207205 12364482 APOC3 apolipoprotein C3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737569 D RGD:9068941 20200609 RGD PMID:1579407|REF_RGD_ID:2313972 12364482 APOC3 apolipoprotein C3 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:737569 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple PMID:16505251|REF_RGD_ID:2306765 12364482 APOC3 apolipoprotein C3 gene DOID:9970 obesity ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9002300|REF_RGD_ID:1601191 12364490 STAR steroidogenic acute regulatory protein gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:735413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid CAH PMID:10215405|PMID:10323391|PMID:10486704|PMID:10566637|PMID:10700722|PMID:11061515|PMID:11279152|PMID:11509019|PMID:12725533|PMID:12909641|PMID:14764819|PMID:15289763|PMID:15347444|PMID:15546900|PMID:15666846|PMID:15985476|PMID:16103714|PMID:16118340|PMID:16199547|PMID:16968793|PMID:17301050|PMID:18729825|PMID:19245813|PMID:19773404|PMID:20444910|PMID:21164258|PMID:21647419|PMID:21846663|PMID:22028173|PMID:22083155|PMID:22903695|PMID:23211570|PMID:23748066|PMID:23859637|PMID:23920000|PMID:24790358|PMID:24904850|PMID:24953586|PMID:25525159|PMID:25741868|PMID:25883920|PMID:26467025|PMID:26523528|PMID:26650942|PMID:26827627|PMID:27047663|PMID:28467518|PMID:28492532|PMID:28546232|PMID:28637490|PMID:29576868|PMID:30400872|PMID:30476142|PMID:31286101|PMID:31666050|PMID:32252217|PMID:33227378|PMID:34243750|PMID:34258490|PMID:7892608|PMID:8634702|PMID:8943003|PMID:8948562|PMID:9077535|PMID:9097960|PMID:9141542|PMID:9215316|PMID:9279522 12364490 STAR steroidogenic acute regulatory protein gene DOID:0050811 congenital adrenal hyperplasia susceptibility ISO RGD:735413 D RGD:9068941 20200609 RGD DNA:transversion:intron:g.IVS4-11T>A (human) PMID:8634702|REF_RGD_ID:1600070 12364490 STAR steroidogenic acute regulatory protein gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:735413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 12364490 STAR steroidogenic acute regulatory protein gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:735413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 12364490 STAR steroidogenic acute regulatory protein gene DOID:11612 polycystic ovary syndrome ISO RGD:3770 D RGD:9068941 20200609 RGD protein:increased expression:ovary (rat) PMID:19698287|REF_RGD_ID:4145934 12364490 STAR steroidogenic acute regulatory protein gene DOID:11612 polycystic ovary syndrome ISO RGD:735413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21262361 12364490 STAR steroidogenic acute regulatory protein gene DOID:1459 hypothyroidism ISO RGD:3770 D RGD:9068941 20200609 RGD mRNA:increased expression:corpus luteum (rat) PMID:17244746|REF_RGD_ID:4889527 12364490 STAR steroidogenic acute regulatory protein gene DOID:1924 hypogonadism ISO RGD:3770 D RGD:9068941 20200609 RGD mRNA:decreased expression:testis (rat) PMID:17880366|REF_RGD_ID:4833436 12364490 STAR steroidogenic acute regulatory protein gene DOID:2527 nephrosis ISO RGD:3770 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary PMID:16574160|REF_RGD_ID:1599698 12364490 STAR steroidogenic acute regulatory protein gene DOID:607 paraplegia ISO RGD:735413 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12364490 STAR steroidogenic acute regulatory protein gene DOID:630 genetic disease ISO RGD:735413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12364490 STAR steroidogenic acute regulatory protein gene DOID:9000972 Fever ISO RGD:3770 D RGD:9068941 20200609 RGD protein:decreased expression:testis (rat) PMID:20389168|REF_RGD_ID:4845252 12364490 STAR steroidogenic acute regulatory protein gene DOID:9002231 Fetal Growth Retardation ISO RGD:3770 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland, maternal (rat) PMID:17881205|REF_RGD_ID:4832477 12364490 STAR steroidogenic acute regulatory protein gene DOID:9003787 Lipoid Congenital Adrenal Hyperplasia ISO RGD:735413 D RGD:7240710 20180130 OMIM 12364490 STAR steroidogenic acute regulatory protein gene DOID:9003787 Lipoid Congenital Adrenal Hyperplasia ISO RGD:735413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital lipoid adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid hyperplasia congenital of adrenal cortex with male pseudohermaphroditism PMID:10215405|PMID:10323391|PMID:10486704|PMID:10566637|PMID:10700722|PMID:11061515|PMID:11279152|PMID:11509019|PMID:12725533|PMID:12909641|PMID:14764819|PMID:15289763|PMID:15347444|PMID:15546900|PMID:15666846|PMID:15985476|PMID:16103714|PMID:16118340|PMID:16199547|PMID:16968793|PMID:17301050|PMID:18729825|PMID:19245813|PMID:19773404|PMID:20444910|PMID:21164258|PMID:21647419|PMID:21846663|PMID:22028173|PMID:22083155|PMID:22903695|PMID:23211570|PMID:23748066|PMID:23859637|PMID:23920000|PMID:24790358|PMID:24904850|PMID:24953586|PMID:25525159|PMID:25741868|PMID:25883920|PMID:26467025|PMID:26523528|PMID:26650942|PMID:26827627|PMID:27047663|PMID:28467518|PMID:28492532|PMID:28546232|PMID:28637490|PMID:29576868|PMID:30400872|PMID:30476142|PMID:31286101|PMID:31666050|PMID:32252217|PMID:33227378|PMID:34243750|PMID:34258490|PMID:7892608|PMID:8634702|PMID:8943003|PMID:8948562|PMID:9077535|PMID:9097960|PMID:9141542|PMID:9215316|PMID:9279522 12364490 STAR steroidogenic acute regulatory protein gene DOID:9003936 Cardiomegaly ISO RGD:3770 D RGD:9068941 20200609 RGD mRNA:increased expression:cardiac muscle tissue (rat) PMID:19349910|REF_RGD_ID:4145630 12364490 STAR steroidogenic acute regulatory protein gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3770 D RGD:9068941 20200609 RGD mRNA:decreased expression:sciatic nerve (rat) PMID:20826654|REF_RGD_ID:4145530 12364490 STAR steroidogenic acute regulatory protein gene DOID:9007715 Endometrial Neoplasms ISO RGD:735413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23200943 12364490 STAR steroidogenic acute regulatory protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:3770 D RGD:9068941 20200609 RGD mRNA:decreased expression:testis, Leydig cell (rat) PMID:18481435|REF_RGD_ID:4889107 12364501 YIF1A Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:0060071 pre-malignant neoplasm ISO RGD:732225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12364501 YIF1A Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:732225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 12364501 YIF1A Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:1059 intellectual disability ISO RGD:732225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12364501 YIF1A Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12364501 YIF1A Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:2746 glycogen storage disease V ISO RGD:732225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12364501 YIF1A Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:630 genetic disease ISO RGD:732225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364501 YIF1A Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:732225 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12364501 YIF1A Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:9007188 Liver Neoplasms ISO RGD:732225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12364501 YIF1A Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:732225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12364517 NDUFC2 NADH:ubiquinone oxidoreductase subunit C2 gene DOID:1059 intellectual disability ISO RGD:1316748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12364517 NDUFC2 NADH:ubiquinone oxidoreductase subunit C2 gene DOID:700 mitochondrial metabolism disease ISO RGD:1316748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25741868|PMID:32969598 12364517 NDUFC2 NADH:ubiquinone oxidoreductase subunit C2 gene DOID:9001378 Nuclear Type Mitochondrial Complex I Deficiency 36 ISO RGD:1316748 D RGD:7240710 20210203 OMIM 12364517 NDUFC2 NADH:ubiquinone oxidoreductase subunit C2 gene DOID:9001378 Nuclear Type Mitochondrial Complex I Deficiency 36 ISO RGD:1316748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36 PMID:25741868|PMID:32969598 12364517 NDUFC2 NADH:ubiquinone oxidoreductase subunit C2 gene DOID:9007096 Stroke ISO RGD:1307511 D RGD:9068941 20200609 RGD incidence 40% in heterozygous SHR-Ndufc2 rats vs 0% in parental SHR rats after 3 months of stroke-permissive diet PMID:26888427|REF_RGD_ID:11040458 12364517 NDUFC2 NADH:ubiquinone oxidoreductase subunit C2 gene DOID:9007096 Stroke susceptibility ISO RGD:1316748 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype::rs641836, rs11237379 (human) PMID:26888427|REF_RGD_ID:11040458 12364524 REEP5 receptor accessory protein 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314440 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:11257105|PMID:12136240|PMID:14672538|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12364524 REEP5 receptor accessory protein 5 gene DOID:13580 cholestasis ISO RGD:1314440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12364524 REEP5 receptor accessory protein 5 gene DOID:630 genetic disease ISO RGD:1314440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364524 REEP5 receptor accessory protein 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12364524 REEP5 receptor accessory protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12364524 REEP5 receptor accessory protein 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12364524 REEP5 receptor accessory protein 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314440 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12364524 REEP5 receptor accessory protein 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1314440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12364530 URB2 URB2 ribosome biogenesis homolog gene DOID:10283 prostate cancer ISO RGD:1346688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12364530 URB2 URB2 ribosome biogenesis homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1346688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12364530 URB2 URB2 ribosome biogenesis homolog gene DOID:1826 epilepsy ISO RGD:1346688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 12364530 URB2 URB2 ribosome biogenesis homolog gene DOID:630 genetic disease ISO RGD:1346688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364530 URB2 URB2 ribosome biogenesis homolog gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1346688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 12364530 URB2 URB2 ribosome biogenesis homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12364552 NRBF2 nuclear receptor binding factor 2 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1346110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 12364552 NRBF2 nuclear receptor binding factor 2 gene DOID:308 early myoclonic encephalopathy ISO RGD:1346110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy PMID:28492532 12364552 NRBF2 nuclear receptor binding factor 2 gene DOID:630 genetic disease ISO RGD:1346110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364562 PDGFD platelet derived growth factor D gene DOID:0080600 COVID-19 ISO RGD:1604286 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12364562 PDGFD platelet derived growth factor D gene DOID:10286 prostate carcinoma disease_progression ISO RGD:1604286 D RGD:9068941 20200609 RGD PMID:21098708|REF_RGD_ID:13506773 12364562 PDGFD platelet derived growth factor D gene DOID:1059 intellectual disability ISO RGD:1604286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12364562 PDGFD platelet derived growth factor D gene DOID:11132 prostatic hypertrophy disease_progression ISO RGD:1604286 D RGD:9068941 20200609 RGD PMID:22689130|REF_RGD_ID:13506770 12364562 PDGFD platelet derived growth factor D gene DOID:12704 ataxia telangiectasia ISO RGD:1604286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12364562 PDGFD platelet derived growth factor D gene DOID:1936 atherosclerosis ISO RGD:1604286 D RGD:9068941 20230128 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) PMID:33381146|REF_RGD_ID:155882464 12364562 PDGFD platelet derived growth factor D gene DOID:2921 glomerulonephritis ISO RGD:621880 D RGD:9068941 20200609 RGD PMID:21866094|REF_RGD_ID:9854633 12364562 PDGFD platelet derived growth factor D gene DOID:3393 coronary artery disease ISO RGD:1604286 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:21378988|PMID:34961328 12364562 PDGFD platelet derived growth factor D gene DOID:4783 mesangial proliferative glomerulonephritis ISO RGD:621880 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:glomerulus,serum: PMID:12937299|REF_RGD_ID:9854637 12364562 PDGFD platelet derived growth factor D gene DOID:4783 mesangial proliferative glomerulonephritis treatment ISO RGD:621880 D RGD:9068941 20200609 RGD PMID:17308324|REF_RGD_ID:9854629 12364562 PDGFD platelet derived growth factor D gene DOID:5082 liver cirrhosis ISO RGD:621880 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:17397961|REF_RGD_ID:9854631 12364562 PDGFD platelet derived growth factor D gene DOID:5426 primary ovarian insufficiency ISO RGD:1604286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12364562 PDGFD platelet derived growth factor D gene DOID:5844 myocardial infarction ISO RGD:621880 D RGD:9068941 20200609 RGD mRNA,protein:altered expression:myocardium: PMID:21767547|REF_RGD_ID:9854703 12364562 PDGFD platelet derived growth factor D gene DOID:630 genetic disease ISO RGD:1604286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364562 PDGFD platelet derived growth factor D gene DOID:9000310 Lung Injury ISO RGD:1604286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25280005 12364562 PDGFD platelet derived growth factor D gene DOID:9000612 Cardiac Allograft Vasculopathy ISO RGD:1604286 D RGD:9068941 20200609 RGD PMID:19213942|REF_RGD_ID:9854642 12364562 PDGFD platelet derived growth factor D gene DOID:9000784 Fibrosis ISO RGD:1604286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25280005 12364562 PDGFD platelet derived growth factor D gene DOID:9004283 Transplant Rejection ISO RGD:621880 D RGD:9068941 20200609 RGD PMID:19213942|REF_RGD_ID:9854642 12364562 PDGFD platelet derived growth factor D gene DOID:9005396 Intimal Hyperplasia ISO RGD:621880 D RGD:9068941 20200609 RGD protein:increased expression:smooth muscle cell: PMID:15752751|REF_RGD_ID:9854640 12364562 PDGFD platelet derived growth factor D gene DOID:9006182 Carotid Artery Injuries ISO RGD:621880 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery: PMID:18258854|REF_RGD_ID:9854624 12364562 PDGFD platelet derived growth factor D gene DOID:9007482 Bone Metastasis ISO RGD:1604286 D RGD:9068941 20200609 RGD associated with prostate carcinoma PMID:22158043|REF_RGD_ID:13506772 12364573 CBX6 chromobox 6 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12364573 CBX6 chromobox 6 gene DOID:3068 glioblastoma disease_progression ISO RGD:1316437 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:astrocyte: PMID:24260522|REF_RGD_ID:9587354 12364573 CBX6 chromobox 6 gene DOID:630 genetic disease ISO RGD:1316437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364582 PGGT1B protein geranylgeranyltransferase type I subunit beta gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:734288 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12364582 PGGT1B protein geranylgeranyltransferase type I subunit beta gene DOID:12849 autistic disorder ISO RGD:734288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12364582 PGGT1B protein geranylgeranyltransferase type I subunit beta gene DOID:630 genetic disease ISO RGD:734288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364582 PGGT1B protein geranylgeranyltransferase type I subunit beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12364582 PGGT1B protein geranylgeranyltransferase type I subunit beta gene DOID:9005172 Lung Neoplasms ISO RGD:734288 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22028818 12364582 PGGT1B protein geranylgeranyltransferase type I subunit beta gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734288 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:0060643 primary sclerosing cholangitis ISO RGD:11094 D RGD:9068941 20220825 MouseDO OMIM:613806 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:0070221 progressive familial intrahepatic cholestasis ISO RGD:736946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis PMID:15077010|PMID:16199547|PMID:17726488|PMID:19467940|PMID:20422496|PMID:20537830|PMID:22331132|PMID:23022423|PMID:23533021|PMID:25741868|PMID:25755532|PMID:25807286|PMID:26126923|PMID:26256905|PMID:26324191|PMID:26474921|PMID:28039895|PMID:28492532|PMID:28587926|PMID:28776642|PMID:28924228|PMID:29761167|PMID:30449124|PMID:31130284|PMID:31181191|PMID:31538484|PMID:31625567|PMID:31728073|PMID:32581362|PMID:32626542|PMID:32917322|PMID:33915153|PMID:34016879|PMID:34678161 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:0070223 progressive familial intrahepatic cholestasis 3 ISO RGD:736946 D RGD:7240710 20180130 OMIM 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:0070223 progressive familial intrahepatic cholestasis 3 ISO RGD:736946 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ABCB4-Related Intrahepatic Cholestasis | ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis | ClinVar Annotator: match by term: MDR3 deficiency PMID:11313316|PMID:12891548|PMID:14999697|PMID:15077010|PMID:16696816|PMID:16763017|PMID:16890614|PMID:17726488|PMID:18083082|PMID:18482588|PMID:19018976|PMID:19490418|PMID:19584064|PMID:19840255|PMID:20422496|PMID:20537830|PMID:20849526|PMID:21119540|PMID:21514256|PMID:22331132|PMID:23022423|PMID:23217326|PMID:23533021|PMID:23820649|PMID:24033266|PMID:24381502|PMID:24594635|PMID:24723470|PMID:24806754|PMID:24914347|PMID:25741868|PMID:25755532|PMID:25807286|PMID:26126923|PMID:26153658|PMID:26324191|PMID:26474921|PMID:26699824|PMID:26900700|PMID:27256251|PMID:28355206|PMID:28492532|PMID:28733223|PMID:28776642|PMID:28924228|PMID:29238877|PMID:31000363|PMID:31319225|PMID:31538484|PMID:32321542|PMID:32581362|PMID:32893960|PMID:33757843|PMID:8666348|PMID:9419367|PMID:9923886 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:0070226 progressive familial intrahepatic cholestasis 1 ISO RGD:736946 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Byler disease PMID:12891548|PMID:17726488|PMID:18482588|PMID:19467940|PMID:19584064|PMID:20422496|PMID:20537830|PMID:21119540|PMID:22331132|PMID:23022423|PMID:23533021|PMID:24723470|PMID:25741868|PMID:25807286|PMID:26126923|PMID:26153658|PMID:26324191|PMID:26474921|PMID:26900700|PMID:27256251|PMID:28355206|PMID:28492532|PMID:28587926|PMID:28733223|PMID:28776642|PMID:31000363|PMID:31538484|PMID:32581362|PMID:32626542|PMID:32917322|PMID:33757843|PMID:34678161 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:0070227 intrahepatic cholestasis of pregnancy ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:0070229 intrahepatic cholestasis of pregnancy 3 ISO RGD:736946 D RGD:7240710 20180130 OMIM 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:0070229 intrahepatic cholestasis of pregnancy 3 ISO RGD:736946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 PMID:10767346|PMID:11313316|PMID:12891548|PMID:14999697|PMID:15077010|PMID:16199547|PMID:16696816|PMID:16763017|PMID:16890614|PMID:17726488|PMID:18083082|PMID:18482588|PMID:19018976|PMID:19185004|PMID:19467940|PMID:19490418|PMID:19584064|PMID:19840255|PMID:20422496|PMID:20537830|PMID:20849526|PMID:21119540|PMID:22331132|PMID:23022423|PMID:23217326|PMID:23533021|PMID:23820649|PMID:24033266|PMID:24381502|PMID:24723470|PMID:24806754|PMID:24914347|PMID:25741868|PMID:25755532|PMID:25807286|PMID:26126923|PMID:26153658|PMID:26324191|PMID:26474921|PMID:26699824|PMID:26900700|PMID:27256251|PMID:28039895|PMID:28355206|PMID:28492532|PMID:28587926|PMID:28733223|PMID:28776642|PMID:28924228|PMID:29238877|PMID:31000363|PMID:31130284|PMID:31538484|PMID:31625567|PMID:31728073|PMID:32321542|PMID:32581362|PMID:32626542|PMID:32893960|PMID:32917322|PMID:33390354|PMID:33915153|PMID:34016879|PMID:8666348|PMID:9419367|PMID:9923886 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20040336 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:12236 primary biliary cholangitis ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20040336|PMID:30682444 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:12236 primary biliary cholangitis disease_progression ISO RGD:736946 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype, diplotype: : rs31658, rs31672,rs1149222(human) PMID:18671305|REF_RGD_ID:14694982 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:12236 primary biliary cholangitis treatment ISO RGD:11094 D RGD:9068941 20220728 RGD PMID:21209952|REF_RGD_ID:153297773 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:13580 cholestasis ISO RGD:11094 D RGD:9068941 20220825 MouseDO 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:13580 cholestasis ISO RGD:620248 D RGD:9068941 20200609 RGD PMID:11680581|REF_RGD_ID:1598589 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:13580 cholestasis ISO RGD:736946 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:26324191|REF_RGD_ID:11565494 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:13603 obstructive jaundice ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22022477 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:14268 sclerosing cholangitis ISO RGD:11094 D RGD:9068941 20200609 RGD PMID:15236191|REF_RGD_ID:14694980 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:14268 sclerosing cholangitis ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16472600|PMID:29808285 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:1852 intrahepatic cholestasis ISO RGD:736946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive intrahepatic cholestasis PMID:19467940|PMID:20422496|PMID:23022423|PMID:23533021|PMID:25741868|PMID:25807286|PMID:26324191|PMID:26474921|PMID:28492532|PMID:28587926|PMID:28776642|PMID:32581362|PMID:32626542|PMID:32917322|PMID:34678161 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:1852 intrahepatic cholestasis treatment ISO RGD:736946 D RGD:9068941 20200609 RGD PMID:30935993|REF_RGD_ID:14695045 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:1949 cholecystitis ISO RGD:11094 D RGD:9068941 20220825 MouseDO OMIM:600803 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:409 liver disease ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29808285 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:5082 liver cirrhosis ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18221819|PMID:8698195 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:5082 liver cirrhosis severity ISO RGD:736946 D RGD:9068941 20200609 RGD associated with cholestasis;DNA:mutations: : PMID:18482588|REF_RGD_ID:14694975 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:736946 D RGD:9068941 20200609 RGD associated with cystic fibrosis;DNA:SNP:exon:c.504T>C(human) PMID:19467940|REF_RGD_ID:4889446 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:630 genetic disease ISO RGD:736946 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:11094 D RGD:9068941 20220825 MouseDO OMIM:114550 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22022477 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:9000144 Chronic Disease ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29808285 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:9000918 Disease Progression ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:9004618 Gallbladder Disease 1 ISO RGD:736946 D RGD:7240710 20180130 OMIM 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:9004618 Gallbladder Disease 1 ISO RGD:736946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gallbladder disease 1 | ClinVar Annotator: match by term: Low phospholipid associated cholelithiasis PMID:11313316|PMID:12891548|PMID:14999697|PMID:15077010|PMID:16763017|PMID:16890614|PMID:17726488|PMID:18482588|PMID:19018976|PMID:19490418|PMID:19584064|PMID:19840255|PMID:20422496|PMID:20537830|PMID:21119540|PMID:22331132|PMID:23022423|PMID:23533021|PMID:24033266|PMID:24381502|PMID:24594635|PMID:24723470|PMID:24806754|PMID:24914347|PMID:25741868|PMID:25807286|PMID:26153658|PMID:26256905|PMID:26324191|PMID:26474921|PMID:26699824|PMID:28355206|PMID:28492532|PMID:28587926|PMID:28733223|PMID:28776642|PMID:28924228|PMID:29238877|PMID:29761167|PMID:30449124|PMID:31181191|PMID:31538484|PMID:32581362|PMID:32893960|PMID:8666348|PMID:9419367 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:9005369 Hepatomegaly treatment ISO RGD:11094 D RGD:9068941 20220728 RGD PMID:21209952|REF_RGD_ID:153297773 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:9005372 Inflammation ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22022477 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620248 D RGD:9068941 20200609 RGD PMID:12055592|REF_RGD_ID:1598588 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:9006205 Animal Disease Models ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16472600|PMID:29808285 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:9007996 End Stage Liver Disease ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22022477 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:9439 chronic cholangitis ISO RGD:11094 D RGD:9068941 20200609 RGD PMID:17852852|REF_RGD_ID:14694983 12364607 ABCB4 ATP binding cassette subfamily B member 4 gene DOID:9446 cholangitis ISO RGD:736946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8698195 12364646 LCLAT1 lysocardiolipin acyltransferase 1 gene DOID:630 genetic disease ISO RGD:1347425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364659 VPS37C VPS37C subunit of ESCRT-I gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1605989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12364659 VPS37C VPS37C subunit of ESCRT-I gene DOID:1059 intellectual disability ISO RGD:1605989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12364659 VPS37C VPS37C subunit of ESCRT-I gene DOID:630 genetic disease ISO RGD:1605989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364689 CD180 CD180 molecule gene DOID:0080600 COVID-19 ISO RGD:1317791 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12364689 CD180 CD180 molecule gene DOID:630 genetic disease ISO RGD:1317791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364689 CD180 CD180 molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12364696 MASP2 MBL associated serine protease 2 gene DOID:0050185 erythema multiforme ISO RGD:1606320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12904520 12364696 MASP2 MBL associated serine protease 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12364696 MASP2 MBL associated serine protease 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1606320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant PMID:24033266|PMID:28492532 12364696 MASP2 MBL associated serine protease 2 gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:1606320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 12364696 MASP2 MBL associated serine protease 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606320 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12364696 MASP2 MBL associated serine protease 2 gene DOID:0111936 immunodeficiency 14 ISO RGD:1606320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 12364696 MASP2 MBL associated serine protease 2 gene DOID:1557 hypersensitivity reaction type III disease ISO RGD:1606320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12904520 12364696 MASP2 MBL associated serine protease 2 gene DOID:630 genetic disease ISO RGD:1606320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364696 MASP2 MBL associated serine protease 2 gene DOID:8577 ulcerative colitis ISO RGD:1606320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12904520 12364696 MASP2 MBL associated serine protease 2 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1606320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12904520 12364696 MASP2 MBL associated serine protease 2 gene DOID:9002347 MASP2 Deficiency ISO RGD:1606320 D RGD:7240710 20180130 OMIM 12364696 MASP2 MBL associated serine protease 2 gene DOID:9002347 MASP2 Deficiency ISO RGD:1606320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 2 | ClinVar Annotator: match by term: MASP2 deficiency PMID:12904520|PMID:15086395|PMID:16029433|PMID:17137870|PMID:17252003|PMID:19234189|PMID:19307021|PMID:24033266|PMID:24332888|PMID:24658431|PMID:25741868|PMID:25930971|PMID:28492532 12364696 MASP2 MBL associated serine protease 2 gene DOID:9005372 Inflammation ISO RGD:1606320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12904520 12364696 MASP2 MBL associated serine protease 2 gene DOID:9006158 Peroxisome Biogenesis Disorder, Complementation Group K ISO RGD:1606320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K PMID:28492532 12364696 MASP2 MBL associated serine protease 2 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1606320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 12364696 MASP2 MBL associated serine protease 2 gene DOID:9255 frontotemporal dementia ISO RGD:1606320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia PMID:24033266|PMID:28492532 12364716 SEC16B SEC16 homolog B, endoplasmic reticulum export factor gene DOID:1540 parathyroid carcinoma ISO RGD:737396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12364716 SEC16B SEC16 homolog B, endoplasmic reticulum export factor gene DOID:630 genetic disease ISO RGD:737396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364716 SEC16B SEC16 homolog B, endoplasmic reticulum export factor gene DOID:9007633 Body Weight ISO RGD:737396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219|PMID:22344221 12364716 SEC16B SEC16 homolog B, endoplasmic reticulum export factor gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:737396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12364716 SEC16B SEC16 homolog B, endoplasmic reticulum export factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12364762 TMEM164 transmembrane protein 164 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12364762 TMEM164 transmembrane protein 164 gene DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ISO RGD:1604569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis PMID:21681106|PMID:27811305|PMID:28089922 12364762 TMEM164 transmembrane protein 164 gene DOID:12849 autistic disorder ISO RGD:1604569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12364762 TMEM164 transmembrane protein 164 gene DOID:5419 schizophrenia ISO RGD:1604569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12364762 TMEM164 transmembrane protein 164 gene DOID:630 genetic disease ISO RGD:1604569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364762 TMEM164 transmembrane protein 164 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12364789 SLCO1C1 solute carrier organic anion transporter family member 1C1 gene DOID:0060041 autism spectrum disorder ISO RGD:731528 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12364789 SLCO1C1 solute carrier organic anion transporter family member 1C1 gene DOID:12236 primary biliary cholangitis ISO RGD:628660 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:15770136|REF_RGD_ID:14700810 12364789 SLCO1C1 solute carrier organic anion transporter family member 1C1 gene DOID:630 genetic disease ISO RGD:731528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364814 TMEM37 transmembrane protein 37 gene DOID:305 carcinoma ISO RGD:1606154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 12364814 TMEM37 transmembrane protein 37 gene DOID:630 genetic disease ISO RGD:1606154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364814 TMEM37 transmembrane protein 37 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1606154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 12364821 CREBL2 cAMP responsive element binding protein like 2 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1319876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12364821 CREBL2 cAMP responsive element binding protein like 2 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1319876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12364821 CREBL2 cAMP responsive element binding protein like 2 gene DOID:630 genetic disease ISO RGD:1319876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364839 PRPF38B pre-mRNA processing factor 38B gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1605670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12364839 PRPF38B pre-mRNA processing factor 38B gene DOID:12849 autistic disorder ISO RGD:1605670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12364839 PRPF38B pre-mRNA processing factor 38B gene DOID:630 genetic disease ISO RGD:1605670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364839 PRPF38B pre-mRNA processing factor 38B gene DOID:9002189 High Myopia ISO RGD:1605670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12364862 ZFPM1 zinc finger protein, FOG family member 1 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1314245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12364862 ZFPM1 zinc finger protein, FOG family member 1 gene DOID:0080600 COVID-19 ISO RGD:1314245 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12364862 ZFPM1 zinc finger protein, FOG family member 1 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1314245 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12364862 ZFPM1 zinc finger protein, FOG family member 1 gene DOID:14780 KBG syndrome ISO RGD:1314245 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 12364862 ZFPM1 zinc finger protein, FOG family member 1 gene DOID:630 genetic disease ISO RGD:1314245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364862 ZFPM1 zinc finger protein, FOG family member 1 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1314245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12364896 CDHR2 cadherin related family member 2 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1606556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12364896 CDHR2 cadherin related family member 2 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1606556 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12364896 CDHR2 cadherin related family member 2 gene DOID:630 genetic disease ISO RGD:1606556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364896 CDHR2 cadherin related family member 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1606556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12364896 CDHR2 cadherin related family member 2 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1606556 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 12364932 PLPP2 phospholipid phosphatase 2 gene DOID:630 genetic disease ISO RGD:734254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12364932 PLPP2 phospholipid phosphatase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12365017 TMED4 transmembrane p24 trafficking protein 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12365017 TMED4 transmembrane p24 trafficking protein 4 gene DOID:630 genetic disease ISO RGD:1352955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12365019 DMXL2 Dmx like 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1347338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12365019 DMXL2 Dmx like 2 gene DOID:0080267 autosomal dominant nonsyndromic deafness 71 ISO RGD:1347338 D RGD:7240710 20190315 OMIM 12365019 DMXL2 Dmx like 2 gene DOID:0080267 autosomal dominant nonsyndromic deafness 71 ISO RGD:1347338 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 71 PMID:25741868|PMID:27657680|PMID:28492532|PMID:33715530|PMID:35802133|PMID:36633841 12365019 DMXL2 Dmx like 2 gene DOID:0112217 developmental and epileptic encephalopathy 81 ISO RGD:1347338 D RGD:7240710 20191211 OMIM 12365019 DMXL2 Dmx like 2 gene DOID:0112217 developmental and epileptic encephalopathy 81 ISO RGD:1347338 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 81 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81 PMID:25741868|PMID:28492532|PMID:30237576|PMID:31688942 12365019 DMXL2 Dmx like 2 gene DOID:13938 amenorrhea ISO RGD:1347338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:28492532|PMID:32870266 12365019 DMXL2 Dmx like 2 gene DOID:2717 Bloom syndrome ISO RGD:1347338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12365019 DMXL2 Dmx like 2 gene DOID:607 paraplegia ISO RGD:1347338 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 12365019 DMXL2 Dmx like 2 gene DOID:630 genetic disease ISO RGD:1347338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12365019 DMXL2 Dmx like 2 gene DOID:9004244 Polyendocrine-Polyneuropathy Syndrome ISO RGD:1347338 D RGD:7240710 20180130 OMIM 12365019 DMXL2 Dmx like 2 gene DOID:9004244 Polyendocrine-Polyneuropathy Syndrome ISO RGD:1347338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyendocrine-polyneuropathy syndrome PMID:25248098|PMID:25741868|PMID:28492532 12365019 DMXL2 Dmx like 2 gene DOID:9004538 Hearing Loss ISO RGD:1347338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 12365019 DMXL2 Dmx like 2 gene DOID:9007428 Muscle Spasticity ISO RGD:1347338 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spasticity PMID:25741868|PMID:28492532 12365019 DMXL2 Dmx like 2 gene DOID:9256 colorectal cancer ISO RGD:1347338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12365071 MYOZ2 myozenin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1316992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:17434779|PMID:19472918|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:31513939|PMID:31534214 12365071 MYOZ2 myozenin 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1316992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 12365071 MYOZ2 myozenin 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1316992 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532 12365071 MYOZ2 myozenin 2 gene DOID:0110322 hypertrophic cardiomyopathy 16 ISO RGD:1316992 D RGD:7240710 20180130 OMIM 12365071 MYOZ2 myozenin 2 gene DOID:0110322 hypertrophic cardiomyopathy 16 ISO RGD:1316992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 16 PMID:17347475|PMID:17434779|PMID:19472918|PMID:21681106|PMID:22987565|PMID:23310962|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:31513939|PMID:31534214 12365071 MYOZ2 myozenin 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1316992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16199547|PMID:17347475|PMID:17434779|PMID:17576681|PMID:19472918|PMID:22310962|PMID:22987565|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27066507|PMID:27341347|PMID:27532257|PMID:27600940|PMID:27788187|PMID:28492532|PMID:28798025|PMID:31513939|PMID:31534214|PMID:9536098 12365071 MYOZ2 myozenin 2 gene DOID:397 restrictive cardiomyopathy ISO RGD:1316992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 12365071 MYOZ2 myozenin 2 gene DOID:630 genetic disease ISO RGD:1316992 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12365071 MYOZ2 myozenin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12365081 STK39 serine/threonine kinase 39 gene DOID:0050450 Gitelman syndrome ISO RGD:734215 D RGD:9068941 20220825 MouseDO OMIM:263800 12365081 STK39 serine/threonine kinase 39 gene DOID:10763 hypertension ISO RGD:734214 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22949526 12365081 STK39 serine/threonine kinase 39 gene DOID:12849 autistic disorder ISO RGD:734214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18348195 12365081 STK39 serine/threonine kinase 39 gene DOID:3910 lung adenocarcinoma ISO RGD:734214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12365081 STK39 serine/threonine kinase 39 gene DOID:4479 pseudohypoaldosteronism ISO RGD:734215 D RGD:9068941 20220825 MouseDO 12365081 STK39 serine/threonine kinase 39 gene DOID:630 genetic disease ISO RGD:734214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12365081 STK39 serine/threonine kinase 39 gene DOID:9006205 Animal Disease Models ISO RGD:734214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12365110 ZFAND6 zinc finger AN1-type containing 6 gene DOID:0050726 tyrosinemia type I ISO RGD:1345898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:28492532 12365110 ZFAND6 zinc finger AN1-type containing 6 gene DOID:2717 Bloom syndrome ISO RGD:1345898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12365110 ZFAND6 zinc finger AN1-type containing 6 gene DOID:37 skin disease ISO RGD:1345898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12365110 ZFAND6 zinc finger AN1-type containing 6 gene DOID:630 genetic disease ISO RGD:1345898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12365110 ZFAND6 zinc finger AN1-type containing 6 gene DOID:9007964 Arsenic Poisoning ISO RGD:1345898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12365110 ZFAND6 zinc finger AN1-type containing 6 gene DOID:9008456 Delayed Emergence from Anesthesia ISO RGD:1345898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16115977 12365110 ZFAND6 zinc finger AN1-type containing 6 gene DOID:9256 colorectal cancer ISO RGD:1345898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12365146 RGS6 regulator of G protein signaling 6 gene DOID:630 genetic disease ISO RGD:736970 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12365227 PALM2AKAP2 PALM2 and AKAP2 fusion gene DOID:10283 prostate cancer ISO RGD:1603446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12365227 PALM2AKAP2 PALM2 and AKAP2 fusion gene DOID:630 genetic disease ISO RGD:1603446 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12365266 RBM48 RNA binding motif protein 48 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1602202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:25741868|PMID:28492532 12365266 RBM48 RNA binding motif protein 48 gene DOID:12712 nephronophthisis ISO RGD:1602202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:26489029 12365266 RBM48 RNA binding motif protein 48 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12365266 RBM48 RNA binding motif protein 48 gene DOID:630 genetic disease ISO RGD:1602202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12365266 RBM48 RNA binding motif protein 48 gene DOID:9006420 Zellweger Leukodystrophy ISO RGD:1602202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:25741868|PMID:28492532 12365266 RBM48 RNA binding motif protein 48 gene DOID:905 Zellweger syndrome ISO RGD:1602202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zellweger Spectrum PMID:25741868|PMID:28492532 12365275 FIGNL1 fidgetin like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12365275 FIGNL1 fidgetin like 1 gene DOID:630 genetic disease ISO RGD:1316113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12365275 FIGNL1 fidgetin like 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:1316113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 12365302 CCDC88B coiled-coil domain containing 88B gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12365302 CCDC88B coiled-coil domain containing 88B gene DOID:1024 leprosy ISO RGD:1603867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25642632 12365302 CCDC88B coiled-coil domain containing 88B gene DOID:1059 intellectual disability ISO RGD:1603867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12365302 CCDC88B coiled-coil domain containing 88B gene DOID:3070 high grade glioma ISO RGD:1603867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12365302 CCDC88B coiled-coil domain containing 88B gene DOID:630 genetic disease ISO RGD:1603867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12365357 DACH1 dachshund family transcription factor 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1606339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12365357 DACH1 dachshund family transcription factor 1 gene DOID:630 genetic disease ISO RGD:1606339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12365372 TMCO3 transmembrane and coiled-coil domains 3 gene DOID:2222 factor X deficiency ISO RGD:1315285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12365372 TMCO3 transmembrane and coiled-coil domains 3 gene DOID:630 genetic disease ISO RGD:1315285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12365406 ADNP activity dependent neuroprotector homeobox gene DOID:0060041 autism spectrum disorder ISO RGD:737453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12365406 ADNP activity dependent neuroprotector homeobox gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:737453 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome PMID:25741868 12365406 ADNP activity dependent neuroprotector homeobox gene DOID:0060870 isolated growth hormone deficiency ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth hormone deficiency PMID:24531329|PMID:25741868|PMID:27031564|PMID:28135719|PMID:28221363|PMID:28492532|PMID:29475819|PMID:29724491|PMID:29911927|PMID:33004838 12365406 ADNP activity dependent neuroprotector homeobox gene DOID:0070058 Helsmoortel-Van Der Aa syndrome ISO RGD:737453 D RGD:7240710 20180130 OMIM 12365406 ADNP activity dependent neuroprotector homeobox gene DOID:0070058 Helsmoortel-Van Der Aa syndrome ISO RGD:737453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Helsmoortel-Van der Aa Syndrome PMID:18414213|PMID:23160955|PMID:24531329|PMID:25057125|PMID:25169753|PMID:25217958|PMID:25363760|PMID:25533962|PMID:25741868|PMID:27031564|PMID:28135719|PMID:28191890|PMID:28221363|PMID:28492532|PMID:28579975|PMID:28675391|PMID:28708303|PMID:29475819|PMID:29724491|PMID:29911927|PMID:30106381|PMID:30687093|PMID:31029150|PMID:33004838|PMID:33624935|PMID:35887114 12365406 ADNP activity dependent neuroprotector homeobox gene DOID:0080074 neural tube defect ISO RGD:737454 D RGD:9068941 20200609 RGD PMID:15886480|REF_RGD_ID:2312793 12365406 ADNP activity dependent neuroprotector homeobox gene DOID:0080557 congenital disorder of glycosylation Ie ISO RGD:737453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E PMID:10642597|PMID:10642602|PMID:28492532 12365406 ADNP activity dependent neuroprotector homeobox gene DOID:1059 intellectual disability ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:23160955|PMID:24531329|PMID:25057125|PMID:25533962|PMID:25741868|PMID:28221363|PMID:28492532|PMID:28579975|PMID:28708303|PMID:29724491|PMID:29911927 12365406 ADNP activity dependent neuroprotector homeobox gene DOID:10652 Alzheimer's disease ISO RGD:737454 D RGD:9068941 20200609 RGD PMID:17720885|PMID:18199809|REF_RGD_ID:2312791|REF_RGD_ID:2312792 12365406 ADNP activity dependent neuroprotector homeobox gene DOID:10907 microcephaly ISO RGD:737453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12365406 ADNP activity dependent neuroprotector homeobox gene DOID:12849 autistic disorder ISO RGD:737453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism, severe PMID:25741868 12365406 ADNP activity dependent neuroprotector homeobox gene DOID:1289 neurodegenerative disease ISO RGD:737454 D RGD:9068941 20200609 RGD PMID:10037502|REF_RGD_ID:2312794 12365406 ADNP activity dependent neuroprotector homeobox gene DOID:1459 hypothyroidism ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:24531329|PMID:25741868|PMID:27031564|PMID:28135719|PMID:28221363|PMID:28492532|PMID:29475819|PMID:29724491|PMID:29911927|PMID:33004838 12365406 ADNP activity dependent neuroprotector homeobox gene DOID:1826 epilepsy ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:24531329|PMID:25741868|PMID:27031564|PMID:28135719|PMID:28221363|PMID:28492532|PMID:29475819|PMID:29724491|PMID:29911927|PMID:33004838 12365406 ADNP activity dependent neuroprotector homeobox gene DOID:2303 stereotypic movement disorder ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:24531329|PMID:25741868|PMID:27031564|PMID:28135719|PMID:28221363|PMID:28492532|PMID:29475819|PMID:29724491|PMID:29911927|PMID:33004838 12365406 ADNP activity dependent neuroprotector homeobox gene DOID:326 ischemia ISO RGD:71030 D RGD:9068941 20200609 RGD PMID:18414890|REF_RGD_ID:2312783 12365406 ADNP activity dependent neuroprotector homeobox gene DOID:3454 brain infarction ISO RGD:71030 D RGD:9068941 20200609 RGD PMID:11935065|REF_RGD_ID:1358226 12365406 ADNP activity dependent neuroprotector homeobox gene DOID:630 genetic disease ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:23160955|PMID:24531329|PMID:25057125|PMID:25533962|PMID:25741868|PMID:26637798|PMID:27031564|PMID:28135719|PMID:28191890|PMID:28221363|PMID:28492532|PMID:28579975|PMID:28675391|PMID:28708303|PMID:29475819|PMID:29724491|PMID:29911927|PMID:31029150|PMID:33004838 12365406 ADNP activity dependent neuroprotector homeobox gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:24531329|PMID:25741868|PMID:27031564|PMID:28135719|PMID:28221363|PMID:28492532|PMID:29475819|PMID:29724491|PMID:29911927|PMID:33004838 12365406 ADNP activity dependent neuroprotector homeobox gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:71030 D RGD:9068941 20200609 RGD PMID:16938277|REF_RGD_ID:2312775 12365406 ADNP activity dependent neuroprotector homeobox gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:18414213|PMID:23160955|PMID:24531329|PMID:25057125|PMID:25533962|PMID:25741868|PMID:28221363|PMID:28492532|PMID:28579975|PMID:28708303|PMID:29724491|PMID:29911927 12365406 ADNP activity dependent neuroprotector homeobox gene DOID:9007621 Craniocerebral Trauma ISO RGD:737454 D RGD:9068941 20200609 RGD PMID:11123362|REF_RGD_ID:2312784 12365406 ADNP activity dependent neuroprotector homeobox gene DOID:9008086 Developmental Disabilities ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24531329|PMID:25741868|PMID:27031564|PMID:28135719|PMID:28221363|PMID:28492532|PMID:29475819|PMID:29724491|PMID:29911927|PMID:33004838 12365406 ADNP activity dependent neuroprotector homeobox gene DOID:9008091 Optic Nerve Injuries ISO RGD:71030 D RGD:9068941 20200609 RGD PMID:18414890|REF_RGD_ID:2312783 12365424 DPYSL2 dihydropyrimidinase like 2 gene DOID:10652 Alzheimer's disease ISO RGD:737388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19374891 12365424 DPYSL2 dihydropyrimidinase like 2 gene DOID:1229 paranoid schizophrenia ISO RGD:737388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17105906 12365424 DPYSL2 dihydropyrimidinase like 2 gene DOID:1459 hypothyroidism ISO RGD:2517 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:thyroid gland PMID:11694350|REF_RGD_ID:2316251 12365424 DPYSL2 dihydropyrimidinase like 2 gene DOID:1824 status epilepticus treatment ISO RGD:2517 D RGD:9068941 20200609 RGD PMID:22761705|REF_RGD_ID:10045560 12365424 DPYSL2 dihydropyrimidinase like 2 gene DOID:2316 brain ischemia ISO RGD:2517 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:19524114|REF_RGD_ID:2316241 12365424 DPYSL2 dihydropyrimidinase like 2 gene DOID:630 genetic disease ISO RGD:737388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12365424 DPYSL2 dihydropyrimidinase like 2 gene DOID:8398 osteoarthritis ISO RGD:737388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12365424 DPYSL2 dihydropyrimidinase like 2 gene DOID:9000998 Brain Injuries ISO RGD:2517 D RGD:9068941 20200609 RGD protein:increased degradation:cerebral cortex, hippocampus PMID:17402852|REF_RGD_ID:2303056 12365445 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:0070355 overactive bladder syndrome ISO RGD:1303284 D RGD:9068941 20200609 RGD PMID:21367919|REF_RGD_ID:10043365 12365445 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:0070355 overactive bladder syndrome ISO RGD:1344231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21367919|PMID:23523557 12365445 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:0111729 familial episodic pain syndrome 1 ISO RGD:1344231 D RGD:7240710 20180130 OMIM 12365445 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:0111729 familial episodic pain syndrome 1 ISO RGD:1344231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial episodic pain syndrome 1 PMID:20547126|PMID:25741868 12365445 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:2841 asthma ISO RGD:1344231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19458046 12365445 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:2841 asthma severity ISO RGD:1303284 D RGD:9068941 20210709 RGD ovalbumin sensitization PMID:31969645|REF_RGD_ID:127285811 12365445 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1344231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12365445 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1303284 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:urinary bladder, dorsal root ganglion: PMID:21367919|REF_RGD_ID:10043365 12365445 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:9000133 Sneezing ISO RGD:1344231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27545873 12365445 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:9000194 Cold Hypersensitivity ISO RGD:1303284 D RGD:9068941 20200609 RGD associated with Peripheral Nerve Injuries; PMID:21068322|REF_RGD_ID:10043615 12365445 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:9000641 Pain ISO RGD:1344231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601631 12365445 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1344231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19458046 12365445 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:1303284 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion: PMID:18514429|REF_RGD_ID:10043379 12365445 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:9002211 Hyperalgesia ISO RGD:1303284 D RGD:9068941 20200609 RGD associated with Peripheral Nerve Injuries; PMID:18954467|REF_RGD_ID:10043618 12365445 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:9002211 Hyperalgesia ISO RGD:1344231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18234885|PMID:21481532|PMID:23523557 12365445 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:9005372 Inflammation ISO RGD:1344231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601631 12365445 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:9005734 Abdominal Pain ISO RGD:1303284 D RGD:9068941 20200609 RGD PMID:24291101|REF_RGD_ID:10043376 12365445 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:9007073 Cough ISO RGD:1344231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27545873 12365445 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:9008820 Visceral Pain ISO RGD:1303284 D RGD:9068941 20200609 RGD associated with Colitis; PMID:23099257|REF_RGD_ID:10043788 12365445 TRPA1 transient receptor potential cation channel subfamily A member 1 gene DOID:9743 diabetic neuropathy ISO RGD:1303284 D RGD:9068941 20200609 RGD PMID:22133672|REF_RGD_ID:10043378 12365476 ADAM19 ADAM metallopeptidase domain 19 gene DOID:1682 congenital heart disease ISO RGD:735924 D RGD:9068941 20200609 RGD PMID:14673146|REF_RGD_ID:1559267 12365476 ADAM19 ADAM metallopeptidase domain 19 gene DOID:1749 squamous cell carcinoma ISO RGD:735923 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 12365476 ADAM19 ADAM metallopeptidase domain 19 gene DOID:3910 lung adenocarcinoma ISO RGD:735923 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 12365476 ADAM19 ADAM metallopeptidase domain 19 gene DOID:5199 ureteral obstruction ISO RGD:735924 D RGD:9068941 20200609 RGD PMID:24103556|REF_RGD_ID:13703030 12365476 ADAM19 ADAM metallopeptidase domain 19 gene DOID:630 genetic disease ISO RGD:735923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12365503 SOX3 SRY-box transcription factor 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12365503 SOX3 SRY-box transcription factor 3 gene DOID:0111779 X-linked panhypopituitarism ISO RGD:1347884 D RGD:7240710 20180130 OMIM 12365503 SOX3 SRY-box transcription factor 3 gene DOID:0111779 X-linked panhypopituitarism ISO RGD:1347884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Panhypopituitarism, X-linked PMID:15800844|PMID:25741868|PMID:28492532 12365503 SOX3 SRY-box transcription factor 3 gene DOID:1059 intellectual disability ISO RGD:1347884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12365503 SOX3 SRY-box transcription factor 3 gene DOID:10908 hydrocephalus ISO RGD:11333 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 12365503 SOX3 SRY-box transcription factor 3 gene DOID:12259 hemophilia B ISO RGD:1347884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary factor IX deficiency disease PMID:2198809|PMID:24375831|PMID:28492532|PMID:3029178|PMID:4045960|PMID:8304338 12365503 SOX3 SRY-box transcription factor 3 gene DOID:12849 autistic disorder ISO RGD:1347884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:23757202|PMID:25741868|PMID:28492532|PMID:30208311 12365503 SOX3 SRY-box transcription factor 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:1347884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12365503 SOX3 SRY-box transcription factor 3 gene DOID:630 genetic disease ISO RGD:1347884 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21289259|PMID:25741868|PMID:28492532 12365503 SOX3 SRY-box transcription factor 3 gene DOID:9000947 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH PANHYPOPITUITARISM ISO RGD:1347884 D RGD:7240710 20180130 OMIM 12365503 SOX3 SRY-box transcription factor 3 gene DOID:9000947 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH PANHYPOPITUITARISM ISO RGD:1347884 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked, with panhypopituitarism | ClinVar Annotator: match by term: X-linked intellectual disability with isolated growth hormone deficiency PMID:12428212|PMID:21289259|PMID:23757202|PMID:25741868|PMID:28492532|PMID:8826446 12365503 SOX3 SRY-box transcription factor 3 gene DOID:9001510 Funnel Chest ISO RGD:1347884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:23757202|PMID:25741868|PMID:28492532 12365503 SOX3 SRY-box transcription factor 3 gene DOID:9004048 X-Linked Mental Retardation with Isolated Growth Hormone Deficiency ISO RGD:1347884 D RGD:9068941 20200609 RGD DNA:duplication:cds:c.712_744dup (human) PMID:12428212|REF_RGD_ID:11535974 12365503 SOX3 SRY-box transcription factor 3 gene DOID:9406 hypopituitarism ISO RGD:11333 D RGD:9068941 20200609 RGD PMID:14981518|REF_RGD_ID:1300422 12365506 ADRB1 adrenoceptor beta 1 gene DOID:0050848 obstructive sleep apnea susceptibility ISO RGD:731289 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:polymorphism: :p.R389G (human) PMID:20948559|REF_RGD_ID:4145102 12365506 ADRB1 adrenoceptor beta 1 gene DOID:10763 hypertension ISO RGD:2059 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:19060223|REF_RGD_ID:5129127 12365506 ADRB1 adrenoceptor beta 1 gene DOID:10763 hypertension ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10673262|PMID:9260993 12365506 ADRB1 adrenoceptor beta 1 gene DOID:10763 hypertension ISO RGD:731289 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; PMID:20398560|REF_RGD_ID:7241549 12365506 ADRB1 adrenoceptor beta 1 gene DOID:11664 nephrosclerosis disease_progression ISO RGD:731289 D RGD:9068941 20200609 RGD associated with hypertension;DNA:missense mutations, haplotype:cds:p.S49G(rs1801252),p.R389G (rs1801253)(human): PMID:19745105|REF_RGD_ID:7241815 12365506 ADRB1 adrenoceptor beta 1 gene DOID:1287 cardiovascular system disease ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11436944 12365506 ADRB1 adrenoceptor beta 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:18287209|REF_RGD_ID:5129132 12365506 ADRB1 adrenoceptor beta 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9554809 12365506 ADRB1 adrenoceptor beta 1 gene DOID:12932 endomyocardial fibrosis ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14502278 12365506 ADRB1 adrenoceptor beta 1 gene DOID:13544 low tension glaucoma susceptibility ISO RGD:731289 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R389G(human) PMID:16785856|REF_RGD_ID:8548468 12365506 ADRB1 adrenoceptor beta 1 gene DOID:1485 cystic fibrosis ISO RGD:731289 D RGD:9068941 20200609 RGD PMID:20203292|REF_RGD_ID:5129107 12365506 ADRB1 adrenoceptor beta 1 gene DOID:1591 renovascular hypertension ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:15592645|PMID:17278011|REF_RGD_ID:7241568|REF_RGD_ID:7241580 12365506 ADRB1 adrenoceptor beta 1 gene DOID:1712 aortic valve stenosis ISO RGD:731289 D RGD:9068941 20200609 RGD PMID:1648674|REF_RGD_ID:7241565 12365506 ADRB1 adrenoceptor beta 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to PMID:10212248|PMID:12374873|PMID:16844790|PMID:17496726 12365506 ADRB1 adrenoceptor beta 1 gene DOID:4195 hyperglycemia ISO RGD:2059 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:heart PMID:21831645|REF_RGD_ID:6893641 12365506 ADRB1 adrenoceptor beta 1 gene DOID:5844 myocardial infarction ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:17143192|REF_RGD_ID:7241557 12365506 ADRB1 adrenoceptor beta 1 gene DOID:6000 congestive heart failure ISO RGD:731289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congestive heart failure and beta-blocker response, modifier of PMID:10212248|PMID:12374873|PMID:16844790|PMID:17496726 12365506 ADRB1 adrenoceptor beta 1 gene DOID:630 genetic disease ISO RGD:731289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12365506 ADRB1 adrenoceptor beta 1 gene DOID:824 periodontitis ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:18275933|REF_RGD_ID:5129135 12365506 ADRB1 adrenoceptor beta 1 gene DOID:824 periodontitis ISO RGD:731289 D RGD:9068941 20200609 RGD PMID:21958237|REF_RGD_ID:7241545 12365506 ADRB1 adrenoceptor beta 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17003101 12365506 ADRB1 adrenoceptor beta 1 gene DOID:9000483 Angina Pectoris ISO RGD:731289 D RGD:9068941 20200609 RGD PMID:11527135|REF_RGD_ID:5129114 12365506 ADRB1 adrenoceptor beta 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2059 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:19785950|REF_RGD_ID:5129118 12365506 ADRB1 adrenoceptor beta 1 gene DOID:9002211 Hyperalgesia ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:19283893|REF_RGD_ID:5129125 12365506 ADRB1 adrenoceptor beta 1 gene DOID:9003996 Birth Weight ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23202124 12365506 ADRB1 adrenoceptor beta 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:20451506|REF_RGD_ID:5129116 12365506 ADRB1 adrenoceptor beta 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:17143192|REF_RGD_ID:7241557 12365506 ADRB1 adrenoceptor beta 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:731289 D RGD:9068941 20200609 RGD protein:decreased expression:left ventricle: PMID:8181801|REF_RGD_ID:7241563 12365506 ADRB1 adrenoceptor beta 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2059 D RGD:9068941 20200609 RGD protein:decreased expression:left ventricle muscular part PMID:21054861|REF_RGD_ID:5129115 12365506 ADRB1 adrenoceptor beta 1 gene DOID:9006450 Familial Natural Short Sleep 2 ISO RGD:731289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SHORT SLEEP, FAMILIAL NATURAL, 2 PMID:31473062 12365506 ADRB1 adrenoceptor beta 1 gene DOID:9007039 Ventricular Dysfunction ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14502278 12365506 ADRB1 adrenoceptor beta 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9554809 12365506 ADRB1 adrenoceptor beta 1 gene DOID:9007278 Anaphylaxis disease_progression ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:20959119|REF_RGD_ID:6893644 12365506 ADRB1 adrenoceptor beta 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:17201736|REF_RGD_ID:5129149 12365506 ADRB1 adrenoceptor beta 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10900253 12365506 ADRB1 adrenoceptor beta 1 gene DOID:9009039 Hyperemia ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17345787 12365506 ADRB1 adrenoceptor beta 1 gene DOID:9351 diabetes mellitus ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18378355 12365506 ADRB1 adrenoceptor beta 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:21491159|REF_RGD_ID:6893642 12365506 ADRB1 adrenoceptor beta 1 gene DOID:9970 obesity ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12032746 12365509 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1602274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12365509 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602274 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12365509 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1602274 D RGD:7240710 20180130 OMIM 12365509 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1602274 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:16199547|PMID:17576681|PMID:24033266|PMID:25029335|PMID:25401470|PMID:25741868|PMID:25790474|PMID:26235147|PMID:27613991|PMID:28087229|PMID:28484079|PMID:28492532|PMID:29367762|PMID:29694889|PMID:30038614|PMID:30463976|PMID:30794020|PMID:30919572|PMID:32673614|PMID:33014937|PMID:33217613|PMID:33488593|PMID:9536098 12365509 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:11077 brucellosis ISO RGD:1615847 D RGD:9068941 20201001 RGD PMID:29203515|PMID:30894428|REF_RGD_ID:39128199|REF_RGD_ID:39128234 12365509 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:11573 listeriosis ISO RGD:1615847 D RGD:9068941 20201001 RGD PMID:21098106|PMID:23378430|REF_RGD_ID:39128219|REF_RGD_ID:39128233 12365509 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:1395 schistosomiasis ISO RGD:1615847 D RGD:9068941 20200925 RGD PMID:32404867|REF_RGD_ID:39128195 12365509 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:1602 lymphadenitis disease_progression ISO RGD:1615847 D RGD:9068941 20201001 RGD associated with herpes simplex PMID:27511736|REF_RGD_ID:39128217 12365509 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:2043 hepatitis B ISO RGD:1615847 D RGD:9068941 20201001 RGD PMID:27312012|REF_RGD_ID:39128205 12365509 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:2365 West Nile encephalitis severity ISO RGD:1615847 D RGD:9068941 20201001 RGD PMID:31415679|REF_RGD_ID:39128224 12365509 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1602274 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:25741868|PMID:28166811|PMID:28492532 12365509 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1602274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:17576681|PMID:25741868|PMID:28087229|PMID:28492532|PMID:30919572|PMID:32673614|PMID:33488593|PMID:9536098 12365509 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1615847 D RGD:9068941 20201001 RGD associated with Haemophilus Infections;mRNA, protein:increased expression:lung (mouse) PMID:29421524|REF_RGD_ID:39128228 12365509 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1602274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25129146 12365509 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:399 tuberculosis ISO RGD:1615847 D RGD:9068941 20200925 RGD PMID:29791904|REF_RGD_ID:39128196 12365509 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1602274 D RGD:9068941 20201001 RGD mRNA:increased expression:multiple tissues (human) PMID:24367701|REF_RGD_ID:39128218 12365509 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:630 genetic disease ISO RGD:1602274 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12365509 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:9000109 Haemophilus Infections ISO RGD:1615847 D RGD:9068941 20201001 RGD mRNA,protein:increased expression:lung (mouse) PMID:29421524|REF_RGD_ID:39128228 12365509 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:9002087 Silicotuberculosis severity ISO RGD:1615847 D RGD:9068941 20200925 RGD PMID:31141689|REF_RGD_ID:39128194 12365509 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1615847 D RGD:9068941 20201001 RGD PMID:29263110|REF_RGD_ID:39128230 12365509 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12365509 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:9005106 Animal Toxoplasmosis severity ISO RGD:1615847 D RGD:9068941 20201001 RGD PMID:31416833|REF_RGD_ID:39128220 12365509 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:9005881 Chilblain Lupus 1 ISO RGD:1602274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27566796 12365509 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:1615847 D RGD:9068941 20201001 RGD PMID:31249303|REF_RGD_ID:39128225 12365509 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602274 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12365509 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1602274 D RGD:9068941 20230518 CTD CTD Direct Evidence: therapeutic PMID:36520315 12365509 STING1 stimulator of interferon response cGAMP interactor 1 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1602274 D RGD:9068941 20201001 RGD DNA:hypermethylation:promoter PMID:30593207|REF_RGD_ID:39128221 12365538 UVRAG UV radiation resistance associated gene DOID:10283 prostate cancer ISO RGD:1317170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12365538 UVRAG UV radiation resistance associated gene DOID:1059 intellectual disability ISO RGD:1317170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12365538 UVRAG UV radiation resistance associated gene DOID:630 genetic disease ISO RGD:1317170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12365557 FSTL1 follistatin like 1 gene DOID:3021 acute kidney failure ISO RGD:69033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20861081 12365557 FSTL1 follistatin like 1 gene DOID:418 systemic scleroderma ISO RGD:69033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27482699 12365557 FSTL1 follistatin like 1 gene DOID:57 aortic valve insufficiency ISO RGD:69033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 12365557 FSTL1 follistatin like 1 gene DOID:630 genetic disease ISO RGD:69033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12365557 FSTL1 follistatin like 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12365557 FSTL1 follistatin like 1 gene DOID:9004657 Weight Gain ISO RGD:69033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12365557 FSTL1 follistatin like 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:69033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12365557 FSTL1 follistatin like 1 gene DOID:9675 pulmonary emphysema ISO RGD:1332393 D RGD:9068941 20220825 MouseDO OMIM:130700 12365583 NHERF4 NHERF family PDZ scaffold protein 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1348843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12365583 NHERF4 NHERF family PDZ scaffold protein 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1348843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12365583 NHERF4 NHERF family PDZ scaffold protein 4 gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1348843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:22742743|PMID:28492532 12365583 NHERF4 NHERF family PDZ scaffold protein 4 gene DOID:0080690 RASopathy ISO RGD:1348843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 12365583 NHERF4 NHERF family PDZ scaffold protein 4 gene DOID:0110651 long QT syndrome 10 ISO RGD:1348843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12365583 NHERF4 NHERF family PDZ scaffold protein 4 gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1348843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:22742743|PMID:28492532 12365583 NHERF4 NHERF family PDZ scaffold protein 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1348843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12365583 NHERF4 NHERF family PDZ scaffold protein 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:1348843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12365583 NHERF4 NHERF family PDZ scaffold protein 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:1348843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12365583 NHERF4 NHERF family PDZ scaffold protein 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:1348843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12365583 NHERF4 NHERF family PDZ scaffold protein 4 gene DOID:5419 schizophrenia ISO RGD:1348843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12365583 NHERF4 NHERF family PDZ scaffold protein 4 gene DOID:630 genetic disease ISO RGD:1348843 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12365583 NHERF4 NHERF family PDZ scaffold protein 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12365583 NHERF4 NHERF family PDZ scaffold protein 4 gene DOID:9007661 Dwarfism ISO RGD:1348843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12365649 RNFT2 ring finger protein, transmembrane 2 gene DOID:630 genetic disease ISO RGD:1605925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12365666 SF3A2 splicing factor 3a subunit 2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1318510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12365666 SF3A2 splicing factor 3a subunit 2 gene DOID:630 genetic disease ISO RGD:1318510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12365666 SF3A2 splicing factor 3a subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12365678 ETHE1 ETHE1 persulfide dioxygenase gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1322274 D RGD:7240710 20180130 OMIM 12365678 ETHE1 ETHE1 persulfide dioxygenase gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1322274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:14732903|PMID:16183799|PMID:16199547|PMID:16828325|PMID:16906473|PMID:17353187|PMID:17576681|PMID:17712735|PMID:18593870|PMID:19136963|PMID:19289697|PMID:20528888|PMID:21472225|PMID:25058219|PMID:25198162|PMID:25596185|PMID:25741868|PMID:26194623|PMID:27391121|PMID:2777167|PMID:27771676|PMID:27830356|PMID:28492532|PMID:28933811|PMID:29625556|PMID:30298498|PMID:30349987|PMID:30864297|PMID:31477743|PMID:32111695|PMID:32485156|PMID:32860008|PMID:32923369|PMID:9536098 12365678 ETHE1 ETHE1 persulfide dioxygenase gene DOID:5419 schizophrenia ISO RGD:1322274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12365678 ETHE1 ETHE1 persulfide dioxygenase gene DOID:630 genetic disease ISO RGD:1322274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12365678 ETHE1 ETHE1 persulfide dioxygenase gene DOID:9006534 Nervous System Malformations ISO RGD:1322274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28933811 12365689 LRP5 LDL receptor related protein 5 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial exudative vitreoretinopathy PMID:11719191|PMID:15024691|PMID:16199547|PMID:16252235|PMID:25711638|PMID:28041643|PMID:28492532|PMID:29181528|PMID:31299183|PMID:8832721 12365689 LRP5 LDL receptor related protein 5 gene DOID:0050770 polycystic liver disease ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:25741868|PMID:28492532|PMID:30452590 12365689 LRP5 LDL receptor related protein 5 gene DOID:0060849 osteoporosis-pseudoglioma syndrome ISO RGD:1319617 D RGD:7240710 20180130 OMIM 12365689 LRP5 LDL receptor related protein 5 gene DOID:0060849 osteoporosis-pseudoglioma syndrome ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteoporosis with pseudoglioma | ClinVar Annotator: match by term: Pseudoglioma with bone fragility PMID:11719191|PMID:11793484|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15346351|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17086708|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17241106|PMID:17306638|PMID:17307038|PMID:17505772|PMID:17766366|PMID:18058054|PMID:18349089|PMID:18493104|PMID:18588671|PMID:18932002|PMID:19023643|PMID:20034086|PMID:21528003|PMID:25741868|PMID:26467025|PMID:28420620|PMID:28492532|PMID:29131652|PMID:30452590|PMID:30894705|PMID:35106624 12365689 LRP5 LDL receptor related protein 5 gene DOID:0080037 Worth syndrome ISO RGD:1319617 D RGD:7240710 20180130 OMIM 12365689 LRP5 LDL receptor related protein 5 gene DOID:0080037 Worth syndrome ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteosclerosis autosomal dominant Worth type | ClinVar Annotator: match by term: Worth disease PMID:1002767|PMID:10434540|PMID:11701785|PMID:11719191|PMID:11883972|PMID:12015390|PMID:12579474|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16679074|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:18058054|PMID:18349089|PMID:18521528|PMID:18588671|PMID:23318847|PMID:25741868|PMID:26348019|PMID:26467025|PMID:28492532|PMID:30452590 12365689 LRP5 LDL receptor related protein 5 gene DOID:0080322 polycystic kidney disease ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:25711638|PMID:25741868|PMID:25920554|PMID:28492532|PMID:30283887 12365689 LRP5 LDL receptor related protein 5 gene DOID:0110937 autosomal dominant osteopetrosis 1 ISO RGD:1319617 D RGD:7240710 20180130 OMIM 12365689 LRP5 LDL receptor related protein 5 gene DOID:0110937 autosomal dominant osteopetrosis 1 ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1 | ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I PMID:1002767|PMID:10434540|PMID:11701785|PMID:11719191|PMID:11741193|PMID:12015390|PMID:12054167|PMID:12579474|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16679074|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:18058054|PMID:18349089|PMID:18521528|PMID:18588671|PMID:23318847|PMID:25741868|PMID:26348019|PMID:26467025|PMID:28492532|PMID:30452590 12365689 LRP5 LDL receptor related protein 5 gene DOID:0111411 exudative vitreoretinopathy 4 ISO RGD:1319617 D RGD:7240710 20180130 OMIM 12365689 LRP5 LDL receptor related protein 5 gene DOID:0111411 exudative vitreoretinopathy 4 ISO RGD:1319617 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 4 | ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, autosomal dominant | ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, autosomal recessive | ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, digenic PMID:11719191|PMID:12579474|PMID:14507768|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15346351|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16199547|PMID:16252235|PMID:16679074|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:17955262|PMID:18058054|PMID:18349089|PMID:18588671|PMID:20034086|PMID:20340138|PMID:25384351|PMID:25711638|PMID:25741868|PMID:26244290|PMID:26467025|PMID:28041643|PMID:28492532|PMID:29181528|PMID:30452590|PMID:31077665|PMID:31237656|PMID:34639175|PMID:8832721|PMID:9056564|PMID:9831343 12365689 LRP5 LDL receptor related protein 5 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant PMID:11719191|PMID:12579474|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16199547|PMID:16252235|PMID:16679074|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:18058054|PMID:18349089|PMID:18588671|PMID:21528003|PMID:25711638|PMID:25741868|PMID:26467025|PMID:28420620|PMID:28492532|PMID:30452590|PMID:33302760|PMID:35106624 12365689 LRP5 LDL receptor related protein 5 gene DOID:1059 intellectual disability ISO RGD:1319617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12365689 LRP5 LDL receptor related protein 5 gene DOID:10629 microphthalmia ISO RGD:1319617 D RGD:9068941 20200609 RGD DNA:mutation:splice junction: PMID:28111184|REF_RGD_ID:12793059 12365689 LRP5 LDL receptor related protein 5 gene DOID:10907 microcephaly ISO RGD:1319617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12365689 LRP5 LDL receptor related protein 5 gene DOID:11476 osteoporosis ISO RGD:1319617 D RGD:7240710 20180130 OMIM 12365689 LRP5 LDL receptor related protein 5 gene DOID:11476 osteoporosis ISO RGD:1319617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 1 | ClinVar Annotator: match by term: LRP5-related primary osteoporosis | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis PMID:11719191|PMID:11793484|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15141052|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17052975|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:17395706|PMID:17505772|PMID:17576681|PMID:18058054|PMID:18349089|PMID:18588671|PMID:18602879|PMID:19324841|PMID:21528003|PMID:22456437|PMID:23441120|PMID:24423337|PMID:24706814|PMID:24715757|PMID:25073507|PMID:25711638|PMID:25741868|PMID:25920554|PMID:26348019|PMID:26467025|PMID:28192794|PMID:28378289|PMID:28420620|PMID:28492532|PMID:28494495|PMID:29168297|PMID:29181528|PMID:30283887|PMID:30452590|PMID:31039433|PMID:33118644|PMID:33939331|PMID:34639175|PMID:35106624|PMID:9536098 12365689 LRP5 LDL receptor related protein 5 gene DOID:11476 osteoporosis treatment ISO RGD:1309329 D RGD:9068941 20200609 RGD PMID:21977807|PMID:22704852|REF_RGD_ID:12793063|REF_RGD_ID:7240519 12365689 LRP5 LDL receptor related protein 5 gene DOID:12347 osteogenesis imperfecta ISO RGD:1319617 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:11719191|PMID:11793484|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15346351|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17086708|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17241106|PMID:17306638|PMID:17307038|PMID:17395706|PMID:17505772|PMID:17766366|PMID:18058054|PMID:18349089|PMID:18493104|PMID:18588671|PMID:18721193|PMID:18932002|PMID:19023643|PMID:24706814|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30452590|PMID:30894705 12365689 LRP5 LDL receptor related protein 5 gene DOID:12347 osteogenesis imperfecta ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:11719191|PMID:11793484|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15346351|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17086708|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17241106|PMID:17306638|PMID:17307038|PMID:17395706|PMID:17505772|PMID:17766366|PMID:18058054|PMID:18349089|PMID:18493104|PMID:18588671|PMID:18721193|PMID:18932002|PMID:19023643|PMID:19324841|PMID:24706814|PMID:25711638|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30452590|PMID:30894705|PMID:33118644 12365689 LRP5 LDL receptor related protein 5 gene DOID:12347 osteogenesis imperfecta treatment ISO RGD:1319618 D RGD:9068941 20200609 RGD PMID:24677211|REF_RGD_ID:12792279 12365689 LRP5 LDL receptor related protein 5 gene DOID:12559 idiopathic juvenile osteoporosis ISO RGD:1319617 D RGD:9068941 20200609 RGD DNA:mutations:exon:c.3446 T > A (p.L1149Q),c.3553 G > A (p.G1185R)(human) PMID:22487062|REF_RGD_ID:12793058 12365689 LRP5 LDL receptor related protein 5 gene DOID:13533 osteopetrosis ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: High bone mass PMID:11741193|PMID:12015390|PMID:25741868|PMID:28492532 12365689 LRP5 LDL receptor related protein 5 gene DOID:14791 Leber congenital amaurosis ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:28492532 12365689 LRP5 LDL receptor related protein 5 gene DOID:4079 heart valve disease ISO RGD:1319617 D RGD:9068941 20200609 RGD protein:increased expression:heart valve PMID:16631011|REF_RGD_ID:12793057 12365689 LRP5 LDL receptor related protein 5 gene DOID:4254 osteosclerosis ISO RGD:1319617 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:11719191|PMID:11741193|PMID:11793484|PMID:12015390|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16679074|PMID:17086708|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17241106|PMID:17306638|PMID:17307038|PMID:17395706|PMID:17505772|PMID:17766366|PMID:18058054|PMID:18349089|PMID:18493104|PMID:18588671|PMID:18932002|PMID:19023643|PMID:25741868|PMID:26467025|PMID:28492532 12365689 LRP5 LDL receptor related protein 5 gene DOID:4997 Camurati-Engelmann disease ISO RGD:1319617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diaphyseal dysplasia PMID:25741868 12365689 LRP5 LDL receptor related protein 5 gene DOID:630 genetic disease ISO RGD:1319617 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11719191|PMID:15024691|PMID:15346351|PMID:16199547|PMID:16252235|PMID:21407258|PMID:25711638|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29181528|PMID:8832721|PMID:9831343 12365689 LRP5 LDL receptor related protein 5 gene DOID:8501 fundus dystrophy ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11719191|PMID:16252235|PMID:25711638|PMID:25741868|PMID:27208204|PMID:28492532|PMID:30452590 12365689 LRP5 LDL receptor related protein 5 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1319617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868|PMID:28492532 12365689 LRP5 LDL receptor related protein 5 gene DOID:898 autosomal dominant polycystic kidney disease susceptibility ISO RGD:1309329 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:multiple mutations (human) PMID:25920554|REF_RGD_ID:11553546 12365689 LRP5 LDL receptor related protein 5 gene DOID:898 autosomal dominant polycystic kidney disease susceptibility ISO RGD:1319617 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:multiple mutations (human) PMID:25920554|REF_RGD_ID:11553546 12365689 LRP5 LDL receptor related protein 5 gene DOID:898 autosomal dominant polycystic kidney disease susceptibility ISO RGD:1319618 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:multiple mutations (human) PMID:25920554|REF_RGD_ID:11553546 12365689 LRP5 LDL receptor related protein 5 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1309329 D RGD:9068941 20200609 RGD PMID:24090150|REF_RGD_ID:12798566 12365689 LRP5 LDL receptor related protein 5 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1319617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Polycystic liver disease 1 PMID:24706814|PMID:25073507|PMID:25741868|PMID:28492532|PMID:30452590 12365689 LRP5 LDL receptor related protein 5 gene DOID:9001771 Polycystic Liver Disease 1 susceptibility ISO RGD:1309329 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R118W (3562C>T) (human) PMID:24706814|REF_RGD_ID:11063140 12365689 LRP5 LDL receptor related protein 5 gene DOID:9001771 Polycystic Liver Disease 1 susceptibility ISO RGD:1319617 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R118W (3562C>T) (human) PMID:24706814|REF_RGD_ID:11063140 12365689 LRP5 LDL receptor related protein 5 gene DOID:9001771 Polycystic Liver Disease 1 susceptibility ISO RGD:1319618 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R118W (3562C>T) (human) PMID:24706814|REF_RGD_ID:11063140 12365689 LRP5 LDL receptor related protein 5 gene DOID:9002278 Metabolic Bone Diseases treatment ISO RGD:1319618 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.A214V,p.G171V(mouse) PMID:26554834|REF_RGD_ID:11343819 12365689 LRP5 LDL receptor related protein 5 gene DOID:9002589 Bone Fractures ISO RGD:1319617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22504420 12365689 LRP5 LDL receptor related protein 5 gene DOID:9003049 Femur Head Necrosis treatment ISO RGD:1309329 D RGD:9068941 20200609 RGD PMID:24510055|REF_RGD_ID:12793062 12365689 LRP5 LDL receptor related protein 5 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1319617 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12365689 LRP5 LDL receptor related protein 5 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:1319617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Postmenopausal osteoporosis PMID:25741868|PMID:28492532 12365689 LRP5 LDL receptor related protein 5 gene DOID:9005882 Spine Osteoarthritis susceptibility ISO RGD:1319617 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.Q89R(human) PMID:17202888|REF_RGD_ID:12792278 12365689 LRP5 LDL receptor related protein 5 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12365689 LRP5 LDL receptor related protein 5 gene DOID:9009127 Polycystic Liver Disease 4 with or without Kidney Cysts ISO RGD:1319617 D RGD:7240710 20190315 OMIM 12365689 LRP5 LDL receptor related protein 5 gene DOID:9009127 Polycystic Liver Disease 4 with or without Kidney Cysts ISO RGD:1319617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS | ClinVar Annotator: match by term: Polycystic liver disease 4 with or without kidney cysts PMID:11719191|PMID:12579474|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16679074|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:18058054|PMID:18349089|PMID:18588671|PMID:24706814|PMID:25073507|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30452590 12365689 LRP5 LDL receptor related protein 5 gene DOID:971 tendinitis ISO RGD:1309329 D RGD:9068941 20200609 RGD protein:increased expression:patellar tendon: PMID:23776285|REF_RGD_ID:12793064 12365689 LRP5 LDL receptor related protein 5 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:1319617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18263894 12365689 LRP5 LDL receptor related protein 5 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:1319617 D RGD:9068941 20200609 RGD DNA:mutations: :p.R570Q, p.R752G, p.E1367K (human) PMID:15346351|REF_RGD_ID:1599835 12365712 PHOSPHO2 phosphatase, orphan 2 gene DOID:630 genetic disease ISO RGD:1603445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12365720 RETNLB resistin like beta gene DOID:630 genetic disease ISO RGD:1345045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12365733 ARMCX6 armadillo repeat containing X-linked 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12365733 ARMCX6 armadillo repeat containing X-linked 6 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1352776 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 12365733 ARMCX6 armadillo repeat containing X-linked 6 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1352776 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 12365733 ARMCX6 armadillo repeat containing X-linked 6 gene DOID:12849 autistic disorder ISO RGD:1352776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12365733 ARMCX6 armadillo repeat containing X-linked 6 gene DOID:630 genetic disease ISO RGD:1352776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12365750 TALDO1 transaldolase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12365750 TALDO1 transaldolase 1 gene DOID:0050729 neutral lipid storage disease ISO RGD:733188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 12365750 TALDO1 transaldolase 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:733188 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12365750 TALDO1 transaldolase 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:733188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12365750 TALDO1 transaldolase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12365750 TALDO1 transaldolase 1 gene DOID:14330 Parkinson's disease ISO RGD:733188 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:23233872 12365750 TALDO1 transaldolase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:733188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12365750 TALDO1 transaldolase 1 gene DOID:2978 carbohydrate metabolic disorder ISO RGD:733188 D RGD:9068941 20210122 RGD Transaldolase deficiency, OMIM:606003 PMID:11283793|REF_RGD_ID:1599293 12365750 TALDO1 transaldolase 1 gene DOID:630 genetic disease ISO RGD:733188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12365750 TALDO1 transaldolase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733188 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:19436114 12365750 TALDO1 transaldolase 1 gene DOID:83 cataract ISO RGD:733188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:25741868|PMID:28492532 12365750 TALDO1 transaldolase 1 gene DOID:9000356 Transaldolase Deficiency ISO RGD:733188 D RGD:7240710 20210114 OMIM 12365750 TALDO1 transaldolase 1 gene DOID:9000356 Transaldolase Deficiency ISO RGD:733188 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: EYAID SYNDROME PMID:10869557|PMID:11283793|PMID:15877206|PMID:18331807|PMID:23315216|PMID:24033266|PMID:24497183|PMID:25326635|PMID:25388407|PMID:25741868|PMID:26238251|PMID:28492532|PMID:28776642|PMID:29292491|PMID:29923087|PMID:31769880 12365750 TALDO1 transaldolase 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:733188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12365750 TALDO1 transaldolase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733188 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:19436114 12365763 ATR ATR serine/threonine kinase gene DOID:0050569 Seckel syndrome ISO RGD:1314047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12365763 ATR ATR serine/threonine kinase gene DOID:0070007 Seckel syndrome 1 ISO RGD:1314047 D RGD:7240710 20180130 OMIM 12365763 ATR ATR serine/threonine kinase gene DOID:0070007 Seckel syndrome 1 ISO RGD:1314047 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seckel syndrome 1 PMID:10691732|PMID:11721054|PMID:12640452|PMID:15987455|PMID:16199547|PMID:17010193|PMID:17576681|PMID:18414213|PMID:21228398|PMID:23111928|PMID:23144622|PMID:24033266|PMID:25741868|PMID:26193622|PMID:26845104|PMID:28492532|PMID:29439820|PMID:30159786|PMID:30199583|PMID:30262796|PMID:30995915|PMID:33057211|PMID:34008015|PMID:9536098 12365763 ATR ATR serine/threonine kinase gene DOID:0070007 Seckel syndrome 1 susceptibility ISO RGD:1314047 D RGD:9068941 20200806 RGD DNA:point mutation:2101A>G (human) PMID:12640452|REF_RGD_ID:1599404 12365763 ATR ATR serine/threonine kinase gene DOID:0080202 adenoid cystic carcinoma treatment ISO RGD:1314047 D RGD:9068941 20210827 RGD PMID:32001675|REF_RGD_ID:150340693 12365763 ATR ATR serine/threonine kinase gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:1314047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ATR-X-related syndrome PMID:25741868|PMID:28492532 12365763 ATR ATR serine/threonine kinase gene DOID:10316 pneumoconiosis ISO RGD:1314047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 12365763 ATR ATR serine/threonine kinase gene DOID:10652 Alzheimer's disease ISO RGD:1314047 D RGD:9068941 20200609 RGD PMID:23861893|REF_RGD_ID:10047419 12365763 ATR ATR serine/threonine kinase gene DOID:10907 microcephaly ISO RGD:1314047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12365763 ATR ATR serine/threonine kinase gene DOID:1324 lung cancer treatment ISO RGD:1314047 D RGD:9068941 20210827 RGD PMID:25010037|REF_RGD_ID:150340694 12365763 ATR ATR serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1314047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:28492532 12365763 ATR ATR serine/threonine kinase gene DOID:1793 pancreatic cancer ISO RGD:1314047 D RGD:9068941 20200609 RGD DNA:SNP: :340C>T (human) PMID:18381943|REF_RGD_ID:2317234 12365763 ATR ATR serine/threonine kinase gene DOID:219 colon cancer disease_progression ISO RGD:1314047 D RGD:9068941 20210827 RGD DNA:mutations: : PMID:17879369|REF_RGD_ID:150340676 12365763 ATR ATR serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1314047 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10691732|PMID:11721054|PMID:12640452|PMID:15987455|PMID:16199547|PMID:18414213|PMID:21228398|PMID:23144622|PMID:25741868|PMID:26193622|PMID:28492532 12365763 ATR ATR serine/threonine kinase gene DOID:9001916 Fetal Death ISO RGD:733730 D RGD:9068941 20210827 RGD PMID:15282542|REF_RGD_ID:150340675 12365763 ATR ATR serine/threonine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25415046 12365763 ATR ATR serine/threonine kinase gene DOID:9002856 Cutaneous Telangiectasia and Cancer Syndrome, Familial ISO RGD:1314047 D RGD:7240710 20180130 OMIM 12365763 ATR ATR serine/threonine kinase gene DOID:9002856 Cutaneous Telangiectasia and Cancer Syndrome, Familial ISO RGD:1314047 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cutaneous telangiectasia and cancer syndrome, familial PMID:15987455|PMID:17010193|PMID:17576681|PMID:18414213|PMID:22341969|PMID:24033266|PMID:25741868|PMID:26845104|PMID:28492532|PMID:30262796|PMID:30995915|PMID:33057211|PMID:34008015|PMID:9536098 12365763 ATR ATR serine/threonine kinase gene DOID:9004643 Urologic Neoplasms ISO RGD:1314047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23618899 12365763 ATR ATR serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15987455|PMID:18414213|PMID:25741868|PMID:26845104|PMID:28492532 12365763 ATR ATR serine/threonine kinase gene DOID:9007715 Endometrial Neoplasms ISO RGD:1314047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial neoplasm PMID:19470935|PMID:21228398|PMID:23144622|PMID:28492532 12365763 ATR ATR serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1314047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 12365763 ATR ATR serine/threonine kinase gene DOID:9261 nasopharynx carcinoma treatment ISO RGD:1314047 D RGD:9068941 20210827 RGD PMID:28820634|REF_RGD_ID:150340692 12365823 MIR491 microRNA mir-491 gene DOID:5419 schizophrenia ISO RGD:1603778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12365823 MIR491 microRNA mir-491 gene DOID:8649 tongue cancer disease_progression ISO RGD:1603778 D RGD:9068941 20220630 RGD mRNA:decreased expression:tongue (human) PMID:25749387|REF_RGD_ID:152995520 12365908 CLCN1 chloride voltage-gated channel 1 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:734112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease PMID:17932099|PMID:18337100|PMID:18337730|PMID:22094069|PMID:22649220|PMID:23739125|PMID:23893571|PMID:24349310|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7581380|PMID:7951215|PMID:8533761|PMID:8571958 12365908 CLCN1 chloride voltage-gated channel 1 gene DOID:0080000 muscular disease ISO RGD:734112 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:10430417|PMID:10644771|PMID:10665666|PMID:11840191|PMID:11933197|PMID:12390967|PMID:15162127|PMID:15980168|PMID:17107341|PMID:17932099|PMID:17990293|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18807109|PMID:20301529|PMID:22094069|PMID:22197187|PMID:22995991|PMID:23097607|PMID:23152584|PMID:23739125|PMID:23893571|PMID:24033266|PMID:24349310|PMID:25741868|PMID:26096614|PMID:26467025|PMID:27142102|PMID:27296017|PMID:27614575|PMID:28492532|PMID:29606556|PMID:34008892|PMID:7874130|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9566422 12365908 CLCN1 chloride voltage-gated channel 1 gene DOID:0080100 congenital myopathy ISO RGD:734112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Batten-Turner congenital myopathy PMID:10051520|PMID:10215406|PMID:10430417|PMID:10467912|PMID:10533075|PMID:10644771|PMID:10665666|PMID:10690989|PMID:10737121|PMID:10962018|PMID:11113225|PMID:11408615|PMID:11840191|PMID:11933197|PMID:12163078|PMID:12390967|PMID:12456816|PMID:12566541|PMID:12661046|PMID:14639587|PMID:15162127|PMID:15241802|PMID:15311340|PMID:15786415|PMID:15980168|PMID:16027167|PMID:16199547|PMID:16629771|PMID:16770776|PMID:17097617|PMID:17107341|PMID:17654559|PMID:17932099|PMID:17990293|PMID:18035046|PMID:18220014|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18807109|PMID:19949657|PMID:20301529|PMID:21221019|PMID:21387378|PMID:21698652|PMID:22094069|PMID:22109722|PMID:22197187|PMID:22407275|PMID:22521272|PMID:22641783|PMID:22649220|PMID:22995991|PMID:23097607|PMID:23113340|PMID:23152584|PMID:23408874|PMID:23417379|PMID:23424641|PMID:23516313|PMID:23739125|PMID:23893571|PMID:23933576|PMID:24033266|PMID:24037712|PMID:24064982|PMID:24088041|PMID:24304580|PMID:24349310|PMID:24452722|PMID:24530047|PMID:24625573|PMID:24920213|PMID:25036107|PMID:25065301|PMID:25088311|PMID:25438602|PMID:25741868|PMID:25749817|PMID:25852444|PMID:26021757|PMID:26036855|PMID:26096614|PMID:26260254|PMID:26467025|PMID:26510092|PMID:26633545|PMID:27066551|PMID:27098784|PMID:27142102|PMID:27199537|PMID:27266866|PMID:27296017|PMID:27415035|PMID:27580824|PMID:27614575|PMID:28427807|PMID:28492532|PMID:28993909|PMID:29606556|PMID:31054297|PMID:31216405|PMID:31544778|PMID:31567646|PMID:31692161|PMID:32117024|PMID:32660787|PMID:32670189|PMID:33263785|PMID:34008892|PMID:34106991|PMID:758138|PMID:7581380|PMID:7874130|PMID:7951215|PMID:7981750|PMID:8112288|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9040658|PMID:9122265|PMID:9158157|PMID:9566422|PMID:9736777 12365908 CLCN1 chloride voltage-gated channel 1 gene DOID:12932 endomyocardial fibrosis ISO RGD:734112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Becker's disease PMID:10360989|PMID:10430417|PMID:10644771|PMID:10665666|PMID:10690989|PMID:11840191|PMID:11933197|PMID:12390967|PMID:1379744|PMID:15162127|PMID:15980168|PMID:16770776|PMID:17107341|PMID:17576681|PMID:17654559|PMID:17932099|PMID:17990293|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18807109|PMID:20301529|PMID:21204798|PMID:21221019|PMID:21698652|PMID:22094069|PMID:22109722|PMID:22197187|PMID:22407275|PMID:22521272|PMID:22641783|PMID:22995991|PMID:23097607|PMID:23113340|PMID:23152584|PMID:23739125|PMID:23893571|PMID:23933576|PMID:24033266|PMID:24037712|PMID:24088041|PMID:24304580|PMID:24349310|PMID:24452722|PMID:25741868|PMID:26096614|PMID:26467025|PMID:26510092|PMID:26633545|PMID:27142102|PMID:27199537|PMID:27266866|PMID:27296017|PMID:27614575|PMID:28325641|PMID:28427807|PMID:28492532|PMID:28993909|PMID:29050397|PMID:29606556|PMID:29790872|PMID:32117024|PMID:32670189|PMID:34008892|PMID:34106991|PMID:7874130|PMID:8301644|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9040760|PMID:9536098|PMID:9566422 12365908 CLCN1 chloride voltage-gated channel 1 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:734112 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis 12365908 CLCN1 chloride voltage-gated channel 1 gene DOID:14692 Smith-Lemli-Opitz syndrome ISO RGD:734112 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:12390967|PMID:15786415|PMID:17932099|PMID:18337100|PMID:18337730|PMID:18816629|PMID:21387378|PMID:22094069|PMID:22649220|PMID:23739125|PMID:23893571|PMID:24037712|PMID:24349310|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28662944|PMID:29606556|PMID:7581380|PMID:7951215|PMID:8533761|PMID:8571958|PMID:9736777 12365908 CLCN1 chloride voltage-gated channel 1 gene DOID:1969 cerebral palsy ISO RGD:734112 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:10430417|PMID:10644771|PMID:10665666|PMID:11840191|PMID:11933197|PMID:12390967|PMID:15162127|PMID:15980168|PMID:17107341|PMID:17932099|PMID:17990293|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18807109|PMID:20301529|PMID:22094069|PMID:22197187|PMID:22995991|PMID:23097607|PMID:23152584|PMID:23739125|PMID:23893571|PMID:24033266|PMID:24349310|PMID:25741868|PMID:26096614|PMID:26467025|PMID:27142102|PMID:27296017|PMID:27614575|PMID:28492532|PMID:29606556|PMID:34008892|PMID:7874130|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9566422 12365908 CLCN1 chloride voltage-gated channel 1 gene DOID:2106 myotonia congenita ISO RGD:734112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myotonia generalized | ClinVar Annotator: match by term: Myotonia levior PMID:10360989|PMID:10430417|PMID:10644771|PMID:10665666|PMID:10690989|PMID:11840191|PMID:11933197|PMID:12390967|PMID:12456816|PMID:1379744|PMID:15162127|PMID:15786415|PMID:15980168|PMID:16770776|PMID:17107341|PMID:17576681|PMID:17654559|PMID:17932099|PMID:17990293|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18807109|PMID:20301529|PMID:21204798|PMID:21221019|PMID:21698652|PMID:22094069|PMID:22109722|PMID:22197187|PMID:22407275|PMID:22521272|PMID:22641783|PMID:22995991|PMID:23097607|PMID:23113340|PMID:23152584|PMID:23739125|PMID:23893571|PMID:23933576|PMID:24033266|PMID:24037712|PMID:24088041|PMID:24304580|PMID:24349310|PMID:24452722|PMID:25741868|PMID:26096614|PMID:26467025|PMID:26510092|PMID:26633545|PMID:27142102|PMID:27199537|PMID:27266866|PMID:27296017|PMID:27614575|PMID:28325641|PMID:28427807|PMID:28492532|PMID:28993909|PMID:29050397|PMID:29606556|PMID:29790872|PMID:32117024|PMID:32670189|PMID:33263785|PMID:34008892|PMID:34106991|PMID:7581380|PMID:7874130|PMID:8301644|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9040760|PMID:9536098|PMID:9566422|PMID:9736777 12365908 CLCN1 chloride voltage-gated channel 1 gene DOID:423 myopathy ISO RGD:734112 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Myopathy PMID:10430417|PMID:10644771|PMID:10665666|PMID:11840191|PMID:11933197|PMID:12390967|PMID:15162127|PMID:15980168|PMID:17107341|PMID:17932099|PMID:17990293|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18807109|PMID:20301529|PMID:22094069|PMID:22197187|PMID:22995991|PMID:23097607|PMID:23152584|PMID:23739125|PMID:23893571|PMID:24033266|PMID:24349310|PMID:25741868|PMID:26096614|PMID:26467025|PMID:27142102|PMID:27296017|PMID:27614575|PMID:28492532|PMID:29606556|PMID:34008892|PMID:7874130|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9566422 12365908 CLCN1 chloride voltage-gated channel 1 gene DOID:630 genetic disease ISO RGD:734112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23810313|PMID:25741868|PMID:26467025|PMID:26502825|PMID:28492532|PMID:31567646 12365908 CLCN1 chloride voltage-gated channel 1 gene DOID:6364 migraine ISO RGD:734112 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Migraine PMID:10737121|PMID:12163078|PMID:20301529|PMID:25741868|PMID:25749817|PMID:26467025|PMID:28492532|PMID:29606556|PMID:8533761|PMID:8845168 12365908 CLCN1 chloride voltage-gated channel 1 gene DOID:9001336 Myotonia Congenita, Autosomal Dominant ISO RGD:734112 D RGD:7240710 20180130 OMIM 12365908 CLCN1 chloride voltage-gated channel 1 gene DOID:9001336 Myotonia Congenita, Autosomal Dominant ISO RGD:734112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form | ClinVar Annotator: match by term: Thomsen's disease PMID:10051520|PMID:10360989|PMID:10430417|PMID:10467912|PMID:10533075|PMID:10644771|PMID:10665666|PMID:10690989|PMID:10737121|PMID:10962018|PMID:11408615|PMID:11840191|PMID:11933197|PMID:12163078|PMID:12390967|PMID:12456816|PMID:12566541|PMID:12661046|PMID:12699527|PMID:1379744|PMID:14639587|PMID:15116370|PMID:15162127|PMID:15786415|PMID:15980168|PMID:16199547|PMID:16321142|PMID:16770776|PMID:17107341|PMID:17576681|PMID:17654559|PMID:17717708|PMID:17932099|PMID:17990293|PMID:18220014|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18624224|PMID:18807109|PMID:19949657|PMID:20301529|PMID:21045501|PMID:21204798|PMID:21221019|PMID:21698652|PMID:22094069|PMID:22109722|PMID:22197187|PMID:22407275|PMID:22521272|PMID:22641783|PMID:22649220|PMID:22995991|PMID:23097607|PMID:23113340|PMID:23152584|PMID:23516313|PMID:23603549|PMID:23739125|PMID:23810313|PMID:23893571|PMID:23933576|PMID:24033266|PMID:24037712|PMID:24064982|PMID:24088041|PMID:24304580|PMID:24349310|PMID:24452722|PMID:24515601|PMID:24625573|PMID:24920213|PMID:25036107|PMID:25088311|PMID:25741868|PMID:25749817|PMID:26096614|PMID:26260254|PMID:26467025|PMID:26502825|PMID:26510092|PMID:26633545|PMID:27118449|PMID:27142102|PMID:27199537|PMID:27266866|PMID:27296017|PMID:27415035|PMID:27582597|PMID:27614575|PMID:28325641|PMID:28427807|PMID:28492532|PMID:28706458|PMID:28993909|PMID:29050397|PMID:29606556|PMID:29790872|PMID:29935101|PMID:31544778|PMID:31567646|PMID:31692161|PMID:32117024|PMID:32117034|PMID:32660787|PMID:32670189|PMID:33263785|PMID:34008892|PMID:34106991|PMID:758138|PMID:7581380|PMID:7874130|PMID:7951215|PMID:7981750|PMID:8112288|PMID:8301644|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9040760|PMID:9122265|PMID:9158157|PMID:9536098|PMID:9566422|PMID:9736777 12365908 CLCN1 chloride voltage-gated channel 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:734112 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 12365908 CLCN1 chloride voltage-gated channel 1 gene DOID:9008993 Myotonia ISO RGD:734112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myotonia PMID:10051520|PMID:10690989|PMID:10962018|PMID:12390967|PMID:16321142|PMID:16770776|PMID:17654559|PMID:17932099|PMID:18337100|PMID:18337730|PMID:20301529|PMID:21221019|PMID:21698652|PMID:22094069|PMID:22109722|PMID:22407275|PMID:22521272|PMID:22641783|PMID:23113340|PMID:23739125|PMID:23933576|PMID:24037712|PMID:24088041|PMID:24304580|PMID:24349310|PMID:24452722|PMID:25036107|PMID:25741868|PMID:26467025|PMID:26510092|PMID:26633545|PMID:27199537|PMID:27266866|PMID:27614575|PMID:28427807|PMID:28492532|PMID:28993909|PMID:32117024|PMID:32670189|PMID:34106991|PMID:758138|PMID:7581380|PMID:7874130|PMID:8533761|PMID:8845168|PMID:8857727 12365908 CLCN1 chloride voltage-gated channel 1 gene DOID:9009057 Myotonia Congenita, Autosomal Recessive ISO RGD:734112 D RGD:7240710 20180130 OMIM 12365908 CLCN1 chloride voltage-gated channel 1 gene DOID:9009057 Myotonia Congenita, Autosomal Recessive ISO RGD:734112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar Annotator: match by term: Myotonia congenita autosomal recessive | ClinVar Annotator: match by term: Myotonia generalized PMID:10051520|PMID:10215406|PMID:10360989|PMID:10430417|PMID:10467912|PMID:10525982|PMID:10533075|PMID:10619717|PMID:10644771|PMID:10665666|PMID:10690989|PMID:10737121|PMID:10962018|PMID:11113225|PMID:11408615|PMID:11840191|PMID:11933197|PMID:12163078|PMID:12390967|PMID:12456816|PMID:12566541|PMID:12661046|PMID:12699527|PMID:1379744|PMID:14639587|PMID:14724190|PMID:15116370|PMID:15162127|PMID:15241802|PMID:15311340|PMID:15786415|PMID:15980168|PMID:16027167|PMID:16199547|PMID:16321142|PMID:16567465|PMID:16629771|PMID:16770776|PMID:17042925|PMID:17097617|PMID:17107341|PMID:17576681|PMID:17654559|PMID:17717708|PMID:17932099|PMID:17990293|PMID:18035046|PMID:18220014|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18579381|PMID:18624224|PMID:18807109|PMID:18816629|PMID:19185184|PMID:19697366|PMID:19882638|PMID:19949657|PMID:20181190|PMID:20301529|PMID:20398785|PMID:21045501|PMID:21204798|PMID:21221019|PMID:21387378|PMID:21520333|PMID:21698652|PMID:22094069|PMID:22109722|PMID:22197187|PMID:22246887|PMID:22346025|PMID:22407275|PMID:22521272|PMID:22641783|PMID:22649220|PMID:22689570|PMID:22790975|PMID:22921319|PMID:22987687|PMID:22995991|PMID:23097607|PMID:23113340|PMID:23152584|PMID:23225051|PMID:23408874|PMID:23417379|PMID:23424641|PMID:23456831|PMID:23483815|PMID:23516313|PMID:23603549|PMID:23739125|PMID:23810313|PMID:23893571|PMID:23933576|PMID:24033266|PMID:24037712|PMID:24064982|PMID:24088041|PMID:24304580|PMID:24349310|PMID:24452722|PMID:24515601|PMID:24530047|PMID:24625573|PMID:24705798|PMID:24920213|PMID:25036107|PMID:25065301|PMID:25088311|PMID:25438602|PMID:25487368|PMID:25741868|PMID:25749817|PMID:25852444|PMID:26007199|PMID:26021757|PMID:26036855|PMID:26042048|PMID:26096614|PMID:26260254|PMID:26467025|PMID:26471370|PMID:26502825|PMID:26510092|PMID:26633545|PMID:27066551|PMID:27098784|PMID:27118449|PMID:27142102|PMID:27199537|PMID:27266866|PMID:27296017|PMID:27300293|PMID:27415035|PMID:27580824|PMID:27582597|PMID:27614575|PMID:27639085|PMID:27653901|PMID:27666773|PMID:27927941|PMID:28325641|PMID:28427807|PMID:28492532|PMID:28600779|PMID:28662944|PMID:28706458|PMID:28993909|PMID:29050397|PMID:29405036|PMID:29424939|PMID:29480456|PMID:29500929|PMID:29606556|PMID:29790872|PMID:29935101|PMID:30243293|PMID:31054297|PMID:31130284|PMID:31216405|PMID:31544778|PMID:31566103|PMID:31567646|PMID:31589614|PMID:31692161|PMID:31732390|PMID:31970219|PMID:32117024|PMID:32214227|PMID:32355288|PMID:32407401|PMID:32466254|PMID:32528171|PMID:32593548|PMID:32660787|PMID:32670189|PMID:32721234|PMID:33263785|PMID:33573884|PMID:34008892|PMID:34106991|PMID:34426522|PMID:34529042|PMID:35170402|PMID:758138|PMID:7581380|PMID:7874130|PMID:7951215|PMID:7951242|PMID:7981750|PMID:8112288|PMID:8301644|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9040658|PMID:9040760|PMID:9122265|PMID:9158157|PMID:9536098|PMID:9566422|PMID:9703437|PMID:9736066|PMID:9736777 12365935 KLK6 kallikrein related peptidase 6 gene DOID:10283 prostate cancer ISO RGD:736738 D RGD:9068941 20200609 RGD protein:decreased expression:prostate PMID:12970725|REF_RGD_ID:2314865 12365935 KLK6 kallikrein related peptidase 6 gene DOID:10652 Alzheimer's disease ISO RGD:736738 D RGD:9068941 20200609 RGD PMID:12074831|PMID:12480753|REF_RGD_ID:1358599|REF_RGD_ID:1358604 12365935 KLK6 kallikrein related peptidase 6 gene DOID:12217 Lewy body dementia ISO RGD:736738 D RGD:9068941 20200609 RGD PMID:12928483|REF_RGD_ID:1358597 12365935 KLK6 kallikrein related peptidase 6 gene DOID:14330 Parkinson's disease ISO RGD:736738 D RGD:9068941 20200609 RGD PMID:12928483|REF_RGD_ID:1358597 12365935 KLK6 kallikrein related peptidase 6 gene DOID:2377 multiple sclerosis ISO RGD:733840 D RGD:9068941 20200609 RGD PMID:11802715|REF_RGD_ID:2314867 12365935 KLK6 kallikrein related peptidase 6 gene DOID:2394 ovarian cancer ISO RGD:736738 D RGD:9068941 20200609 RGD PMID:17303231|REF_RGD_ID:2314855 12365935 KLK6 kallikrein related peptidase 6 gene DOID:3213 demyelinating disease ISO RGD:736738 D RGD:9068941 20200609 RGD PMID:12023317|REF_RGD_ID:1358596 12365935 KLK6 kallikrein related peptidase 6 gene DOID:3459 breast carcinoma ISO RGD:736738 D RGD:9068941 20200609 RGD PMID:18992199|REF_RGD_ID:2314863 12365935 KLK6 kallikrein related peptidase 6 gene DOID:4450 renal cell carcinoma ISO RGD:736738 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16340244|REF_RGD_ID:2314864 12365935 KLK6 kallikrein related peptidase 6 gene DOID:4752 multiple system atrophy ISO RGD:736738 D RGD:9068941 20200609 RGD PMID:12928483|REF_RGD_ID:1358597 12365935 KLK6 kallikrein related peptidase 6 gene DOID:630 genetic disease ISO RGD:736738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12365935 KLK6 kallikrein related peptidase 6 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3419 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:16987227|REF_RGD_ID:2314866 12365935 KLK6 kallikrein related peptidase 6 gene DOID:9000039 Spinal Cord Injuries ISO RGD:736738 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:16987227|REF_RGD_ID:2314866 12365965 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:732496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21173233 12365965 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:0060903 thrombosis ISO RGD:620917 D RGD:9068941 20200609 RGD PMID:15834429|REF_RGD_ID:1580861 12365965 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:10283 prostate cancer disease_progression ISO RGD:732496 D RGD:9068941 20200609 RGD PMID:18372911|REF_RGD_ID:13506810 12365965 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:10283 prostate cancer treatment ISO RGD:732496 D RGD:9068941 20200609 RGD PMID:20103642|REF_RGD_ID:13506809 12365965 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:1380 endometrial cancer onset ISO RGD:732496 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium (human) PMID:28002804|REF_RGD_ID:13674181 12365965 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:1984 rectal benign neoplasm disease_progression ISO RGD:732496 D RGD:9068941 20200609 RGD PMID:25473181|REF_RGD_ID:13432031 12365965 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:732496 D RGD:9068941 20200609 RGD PMID:18755892|REF_RGD_ID:13217420 12365965 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:3068 glioblastoma ISO RGD:732496 D RGD:9068941 20200609 RGD PMID:21188471|REF_RGD_ID:13782050 12365965 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:3068 glioblastoma disease_progression ISO RGD:732496 D RGD:9068941 20200609 RGD PMID:26956052|REF_RGD_ID:11343921 12365965 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:5419 schizophrenia ISO RGD:732496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 12365965 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:630 genetic disease ISO RGD:732496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12365965 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:684 hepatocellular carcinoma treatment ISO RGD:620917 D RGD:9068941 20220520 RGD PMID:25999787|REF_RGD_ID:152177911 12365965 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:9000081 Lymphatic Metastasis ISO RGD:732496 D RGD:9068941 20200609 RGD associated with Colorectal Neoplasms PMID:25550888|REF_RGD_ID:13432030 12365965 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:732496 D RGD:9068941 20220421 RGD PMID:28756200|REF_RGD_ID:151893490 12365965 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:9002304 Prostatic Neoplasms ISO RGD:732496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12365965 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:9007715 Endometrial Neoplasms ISO RGD:732496 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium (human) PMID:17427168|REF_RGD_ID:13441594 12365965 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:732496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 12365965 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:9256 colorectal cancer ameliorates ISO RGD:732496 D RGD:9068941 20220421 RGD human cells in mouse model PMID:30789971|REF_RGD_ID:151893289 12365965 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:732496 D RGD:9068941 20200609 RGD PMID:11812753|REF_RGD_ID:13506799 12365997 ANKEF1 ankyrin repeat and EF-hand domain containing 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1312470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 12365997 ANKEF1 ankyrin repeat and EF-hand domain containing 1 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1312470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 12365997 ANKEF1 ankyrin repeat and EF-hand domain containing 1 gene DOID:630 genetic disease ISO RGD:1312470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12365997 ANKEF1 ankyrin repeat and EF-hand domain containing 1 gene DOID:9245 Alagille syndrome ISO RGD:1312470 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532|PMID:32733715 12366025 CCDC92 coiled-coil domain containing 92 gene DOID:630 genetic disease ISO RGD:1604596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366025 CCDC92 coiled-coil domain containing 92 gene DOID:9000528 Coronary Disease ISO RGD:1604596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 12366025 CCDC92 coiled-coil domain containing 92 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 12366042 CMYA5 cardiomyopathy associated 5 gene DOID:630 genetic disease ISO RGD:1321357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366042 CMYA5 cardiomyopathy associated 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12366059 TM9SF1 transmembrane 9 superfamily member 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1316066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12366059 TM9SF1 transmembrane 9 superfamily member 1 gene DOID:630 genetic disease ISO RGD:1316066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366059 TM9SF1 transmembrane 9 superfamily member 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1316066 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12366059 TM9SF1 transmembrane 9 superfamily member 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316066 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12366082 C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 gene DOID:0080600 COVID-19 ISO RGD:732029 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12366082 C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 gene DOID:630 genetic disease ISO RGD:732029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366092 SYT6 synaptotagmin 6 gene DOID:0080690 RASopathy ISO RGD:737166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12366092 SYT6 synaptotagmin 6 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:737166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 12366092 SYT6 synaptotagmin 6 gene DOID:3007 breast ductal carcinoma ISO RGD:737166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12366092 SYT6 synaptotagmin 6 gene DOID:630 genetic disease ISO RGD:737166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366092 SYT6 synaptotagmin 6 gene DOID:9001272 Hoyeraal Hreidarsson Syndrome ISO RGD:737166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome PMID:28492532 12366122 PPIL4 peptidylprolyl isomerase like 4 gene DOID:630 genetic disease ISO RGD:1322302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366139 CERS4 ceramide synthase 4 gene DOID:0080490 mucolipidosis type IV ISO RGD:1319578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 12366139 CERS4 ceramide synthase 4 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1319578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 12366139 CERS4 ceramide synthase 4 gene DOID:12849 autistic disorder ISO RGD:1319578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12366139 CERS4 ceramide synthase 4 gene DOID:630 genetic disease ISO RGD:1319578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366157 GCM2 glial cells missing transcription factor 2 gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:1322420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 13 with adult I phenotype PMID:28492532 12366157 GCM2 glial cells missing transcription factor 2 gene DOID:0111387 familial isolated hypoparathyroidism ISO RGD:1322420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial isolated hypoparathyroidism PMID:15728199|PMID:18182452|PMID:21642377|PMID:23155703|PMID:25741868|PMID:27745835|PMID:28492532|PMID:29264504|PMID:30624640|PMID:31671402|PMID:32576032 12366157 GCM2 glial cells missing transcription factor 2 gene DOID:11199 hypoparathyroidism ISO RGD:1322421 D RGD:9068941 20220825 MouseDO OMIM:146200 | OMIM:307700 12366157 GCM2 glial cells missing transcription factor 2 gene DOID:630 genetic disease ISO RGD:1322420 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18712808|PMID:27480553 12366157 GCM2 glial cells missing transcription factor 2 gene DOID:9002627 Familial Isolated Hypoparathyroidism 2 ISO RGD:1322420 D RGD:7240710 20200520 OMIM 12366157 GCM2 glial cells missing transcription factor 2 gene DOID:9002627 Familial Isolated Hypoparathyroidism 2 ISO RGD:1322420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, familial isolated, 2 PMID:11602629|PMID:15728199|PMID:15863676|PMID:18583467|PMID:18712808|PMID:21642377|PMID:25741868|PMID:27745835|PMID:28492532|PMID:29264504|PMID:30624640|PMID:31671402|PMID:32576032 12366157 GCM2 glial cells missing transcription factor 2 gene DOID:9003143 Hyperparathyroidism 4 ISO RGD:1322420 D RGD:7240710 20190315 OMIM 12366157 GCM2 glial cells missing transcription factor 2 gene DOID:9003143 Hyperparathyroidism 4 ISO RGD:1322420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 4 PMID:15728199|PMID:21642377|PMID:25741868|PMID:27745835|PMID:28492532|PMID:29264504|PMID:30624640|PMID:31671402|PMID:32576032|PMID:34008892 12366165 BLOC1S4 biogenesis of lysosomal organelles complex 1 subunit 4 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1332125 D RGD:9068941 20220825 MouseDO 12366165 BLOC1S4 biogenesis of lysosomal organelles complex 1 subunit 4 gene DOID:630 genetic disease ISO RGD:1602324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366170 ZNF174 zinc finger protein 174 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1322583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12366170 ZNF174 zinc finger protein 174 gene DOID:1826 epilepsy ISO RGD:1322583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12366170 ZNF174 zinc finger protein 174 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1322583 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12366170 ZNF174 zinc finger protein 174 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1322583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12366170 ZNF174 zinc finger protein 174 gene DOID:2843 long QT syndrome ISO RGD:1322583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12366170 ZNF174 zinc finger protein 174 gene DOID:630 genetic disease ISO RGD:1322583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366180 TRUB2 TruB pseudouridine synthase family member 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12366180 TRUB2 TruB pseudouridine synthase family member 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12366180 TRUB2 TruB pseudouridine synthase family member 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12366180 TRUB2 TruB pseudouridine synthase family member 2 gene DOID:630 genetic disease ISO RGD:1346955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366192 MMP26 matrix metallopeptidase 26 gene DOID:0080773 delta beta-thalassemia ISO RGD:1347422 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12366192 MMP26 matrix metallopeptidase 26 gene DOID:2661 myoepithelioma ISO RGD:1347422 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12366192 MMP26 matrix metallopeptidase 26 gene DOID:37 skin disease ISO RGD:1347422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16984259 12366192 MMP26 matrix metallopeptidase 26 gene DOID:630 genetic disease ISO RGD:1347422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366192 MMP26 matrix metallopeptidase 26 gene DOID:9003281 Spontaneous Abortions ISO RGD:1347422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12366201 BBOF1 basal body orientation factor 1 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1346239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 12366201 BBOF1 basal body orientation factor 1 gene DOID:1059 intellectual disability ISO RGD:1346239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12366201 BBOF1 basal body orientation factor 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1346239 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12366201 BBOF1 basal body orientation factor 1 gene DOID:630 genetic disease ISO RGD:1346239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12366201 BBOF1 basal body orientation factor 1 gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1346239 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:25741868|PMID:28492532 12366201 BBOF1 basal body orientation factor 1 gene DOID:9006567 Methylmalonate Semialdehyde Dehydrogenase Deficiency ISO RGD:1346239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonate semialdehyde dehydrogenase deficiency PMID:10947204|PMID:11446412|PMID:21863277|PMID:23835272|PMID:25741868|PMID:28492532|PMID:3117077|PMID:32151545|PMID:3939535 12366222 HTRA3 HtrA serine peptidase 3 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1354015 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 12366222 HTRA3 HtrA serine peptidase 3 gene DOID:630 genetic disease ISO RGD:1354015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366236 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:0080600 COVID-19 ISO RGD:1344647 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12366236 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:1749 squamous cell carcinoma ISO RGD:1344647 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194279 12366236 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:1909 melanoma ISO RGD:1344647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:26619011 12366236 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:2717 Bloom syndrome ISO RGD:1344647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12366236 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:3151 skin squamous cell carcinoma ISO RGD:1344647 D RGD:9068941 20200609 RGD DNA:mutation:cds: p.Ala40Glu (human) PMID:30972880|REF_RGD_ID:28867225 12366236 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:3151 skin squamous cell carcinoma ISO RGD:1344647 D RGD:9068941 20200609 RGD DNA:mutation:cds: p.Ser24Phe(human) PMID:25194279|REF_RGD_ID:28867226 12366236 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:630 genetic disease ISO RGD:1344647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366236 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:8866 actinic keratosis severity ISO RGD:1344647 D RGD:9068941 20200609 RGD DNA:mutation:cds: p.Ala40Glu (human) PMID:30972880|REF_RGD_ID:28867225 12366236 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:8923 skin melanoma ISO RGD:1344647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:26619011 12366236 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:9000886 Roifman-Chitayat Syndrome ISO RGD:1344647 D RGD:7240710 20210505 OMIM 12366236 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:9000886 Roifman-Chitayat Syndrome ISO RGD:1344647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic PMID:19863561|PMID:29180244 12366236 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:9256 colorectal cancer ISO RGD:1344647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12366252 ZSCAN22 zinc finger and SCAN domain containing 22 gene DOID:630 genetic disease ISO RGD:1315325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366252 ZSCAN22 zinc finger and SCAN domain containing 22 gene DOID:9007188 Liver Neoplasms ISO RGD:1315325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12366322 COL17A1 collagen type XVII alpha 1 chain gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:1322425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:10636730|PMID:11406649|PMID:12813757|PMID:14614394|PMID:16199547|PMID:16354180|PMID:16473856|PMID:17344927|PMID:17576681|PMID:19340010|PMID:20301304|PMID:21357940|PMID:24033266|PMID:24319098|PMID:24668667|PMID:24814191|PMID:25741868|PMID:25803036|PMID:28492532|PMID:28813618|PMID:9077475|PMID:9204958|PMID:9536098|PMID:9583744 12366322 COL17A1 collagen type XVII alpha 1 chain gene DOID:0070337 epithelial recurrent erosion dystrophy ISO RGD:1322425 D RGD:7240710 20180130 OMIM 12366322 COL17A1 collagen type XVII alpha 1 chain gene DOID:0070337 epithelial recurrent erosion dystrophy ISO RGD:1322425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epithelial recurrent erosion dystrophy PMID:14562173|PMID:19710953|PMID:21466533|PMID:23550562|PMID:24005051|PMID:25676728|PMID:25741868|PMID:26604146|PMID:2663347|PMID:26786512|PMID:27309958|PMID:28492532|PMID:9199555 12366322 COL17A1 collagen type XVII alpha 1 chain gene DOID:3209 junctional epidermolysis bullosa ISO RGD:1322425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa PMID:10398261|PMID:10577906|PMID:11851893|PMID:16473856|PMID:17344927|PMID:20301304|PMID:21357940|PMID:24319098|PMID:25741868|PMID:28492532|PMID:7550320|PMID:9199555|PMID:9740252 12366322 COL17A1 collagen type XVII alpha 1 chain gene DOID:3209 junctional epidermolysis bullosa susceptibility ISO RGD:1322425 D RGD:9068941 20200609 RGD PMID:7550320|REF_RGD_ID:1600884 12366322 COL17A1 collagen type XVII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1322425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12366322 COL17A1 collagen type XVII alpha 1 chain gene DOID:9000413 Junctional Epidermolysis Bullosa 4, Intermediate ISO RGD:1322425 D RGD:7240710 20220608 OMIM 12366322 COL17A1 collagen type XVII alpha 1 chain gene DOID:9000413 Junctional Epidermolysis Bullosa 4, Intermediate ISO RGD:1322425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate PMID:10398261|PMID:10577906|PMID:10636730|PMID:10951237|PMID:11851893|PMID:16199547|PMID:16354180|PMID:16473856|PMID:17344927|PMID:19340010|PMID:20301304|PMID:21357940|PMID:21466533|PMID:23550562|PMID:24005051|PMID:24319098|PMID:25741868|PMID:26604146|PMID:28492532|PMID:7092249|PMID:7550320|PMID:8618019|PMID:9012408|PMID:9077475|PMID:9199555|PMID:9204958|PMID:9457913|PMID:9457914|PMID:9740252 12366322 COL17A1 collagen type XVII alpha 1 chain gene DOID:9002189 High Myopia ISO RGD:1322425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:24814191|PMID:25803036 12366385 UNK unk zinc finger gene DOID:630 genetic disease ISO RGD:1319446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366430 TUBB tubulin beta class I gene DOID:0050453 lissencephaly ISO RGD:1606428 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:25741868|PMID:29671837|PMID:29706646 12366430 TUBB tubulin beta class I gene DOID:0090136 complex cortical dysplasia with other brain malformations 6 ISO RGD:1606428 D RGD:7240710 20180130 OMIM 12366430 TUBB tubulin beta class I gene DOID:0090136 complex cortical dysplasia with other brain malformations 6 ISO RGD:1606428 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 6 PMID:23246003|PMID:24833723|PMID:25741868|PMID:26637975|PMID:29671837|PMID:29706646|PMID:32085672|PMID:34211110 12366430 TUBB tubulin beta class I gene DOID:0112241 multiple benign circumferential skin creases on limbs ISO RGD:1606428 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE | ClinVar Annotator: match by term: Kunze Riehm syndrome PMID:12239728|PMID:23246003|PMID:23324645|PMID:25741868|PMID:26637975|PMID:29671837|PMID:29706646 12366430 TUBB tubulin beta class I gene DOID:0112242 congenital symmetric circumferential skin creases 1 ISO RGD:1606428 D RGD:7240710 20180130 OMIM 12366430 TUBB tubulin beta class I gene DOID:0112242 congenital symmetric circumferential skin creases 1 ISO RGD:1606428 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Symmetric circumferential skin creases, congenital, 1 PMID:12239728|PMID:23246003|PMID:23324645|PMID:25741868|PMID:26637975|PMID:29671837|PMID:29706646 12366430 TUBB tubulin beta class I gene DOID:10907 microcephaly ISO RGD:1624063 D RGD:9068941 20220825 MouseDO OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 12366430 TUBB tubulin beta class I gene DOID:10908 hydrocephalus ISO RGD:1606428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868 12366430 TUBB tubulin beta class I gene DOID:11372 megacolon ISO RGD:1606428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12366430 TUBB tubulin beta class I gene DOID:12930 dilated cardiomyopathy ISO RGD:1624063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16155095 12366430 TUBB tubulin beta class I gene DOID:6000 congestive heart failure ISO RGD:1624063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16155095 12366430 TUBB tubulin beta class I gene DOID:630 genetic disease ISO RGD:1606428 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23246003|PMID:24833723|PMID:25741868 12366430 TUBB tubulin beta class I gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1624063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 12366430 TUBB tubulin beta class I gene DOID:9009131 Ventriculomegaly ISO RGD:1606428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868 12366438 CLIC1 chloride intracellular channel 1 gene DOID:0050553 JMP syndrome ISO RGD:1353337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12366438 CLIC1 chloride intracellular channel 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1353337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12366438 CLIC1 chloride intracellular channel 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1353337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12366438 CLIC1 chloride intracellular channel 1 gene DOID:630 genetic disease ISO RGD:1353337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366438 CLIC1 chloride intracellular channel 1 gene DOID:8398 osteoarthritis ISO RGD:1353337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12366438 CLIC1 chloride intracellular channel 1 gene DOID:9000058 Keloid ISO RGD:1353337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12366438 CLIC1 chloride intracellular channel 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 12366438 CLIC1 chloride intracellular channel 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12366438 CLIC1 chloride intracellular channel 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1353337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 12366448 REPS1 RALBP1 associated Eps domain containing 1 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1316142 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12366448 REPS1 RALBP1 associated Eps domain containing 1 gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1316142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:29395073 12366448 REPS1 RALBP1 associated Eps domain containing 1 gene DOID:630 genetic disease ISO RGD:1316142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12366448 REPS1 RALBP1 associated Eps domain containing 1 gene DOID:9009152 Neurodegeneration with Brain Iron Accumulation 7 ISO RGD:1316142 D RGD:7240710 20190315 OMIM 12366448 REPS1 RALBP1 associated Eps domain containing 1 gene DOID:9009152 Neurodegeneration with Brain Iron Accumulation 7 ISO RGD:1316142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 7 PMID:25741868|PMID:28492532|PMID:29395073 12366484 FBXW9 F-box and WD repeat domain containing 9 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1315938 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12366484 FBXW9 F-box and WD repeat domain containing 9 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1315938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12366484 FBXW9 F-box and WD repeat domain containing 9 gene DOID:0111254 glutaric acidemia I ISO RGD:1315938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12366484 FBXW9 F-box and WD repeat domain containing 9 gene DOID:3413 alpha-mannosidosis ISO RGD:1315938 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12366484 FBXW9 F-box and WD repeat domain containing 9 gene DOID:630 genetic disease ISO RGD:1315938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366498 TCHP trichoplein keratin filament binding gene DOID:630 genetic disease ISO RGD:1604269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366518 IQCB1 IQ motif containing B1 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1320759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia PMID:15723066|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:23188109|PMID:23559409|PMID:23847139|PMID:24033266|PMID:24625443|PMID:25741868|PMID:28041643|PMID:28492532 12366518 IQCB1 IQ motif containing B1 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1320759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12366518 IQCB1 IQ motif containing B1 gene DOID:0110414 retinitis pigmentosa 3 severity ISO RGD:1352855 D RGD:9068941 20200609 RGD PMID:21857984|PMID:22183348|REF_RGD_ID:11352374|REF_RGD_ID:11537386 12366518 IQCB1 IQ motif containing B1 gene DOID:0111005 cone-rod dystrophy 2 IAGP D RGD:12801476 20230503 OMIA Cone-rod dystrophy 2 PMID:15064680|PMID:22065099|PMID:24045995|PMID:27506978|PMID:33781914|PMID:34954206|PMID:30050836 12366518 IQCB1 IQ motif containing B1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320759 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22261762|PMID:22773737|PMID:25741868|PMID:28492532|PMID:30718709 12366518 IQCB1 IQ motif containing B1 gene DOID:12712 nephronophthisis ISO RGD:1320759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15723066|PMID:17576681|PMID:18076122|PMID:19430481|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:22183348|PMID:22261762|PMID:22773737|PMID:23188109|PMID:23446637|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24066033|PMID:24625443|PMID:24674142|PMID:25640679|PMID:25741868|PMID:25851290|PMID:26274329|PMID:26673778|PMID:26766544|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562|PMID:29053603|PMID:29068479|PMID:30718709|PMID:9536098 12366518 IQCB1 IQ motif containing B1 gene DOID:12712 nephronophthisis ISO RGD:1320759 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:15723066|PMID:17576681|PMID:18076122|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:22183348|PMID:22261762|PMID:22773737|PMID:23188109|PMID:23446637|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24066033|PMID:24625443|PMID:25640679|PMID:25741868|PMID:26673778|PMID:26766544|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562|PMID:29053603|PMID:29068479|PMID:30718709|PMID:9536098 12366518 IQCB1 IQ motif containing B1 gene DOID:12712 nephronophthisis ISO RGD:1320759 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:15723066|PMID:17576681|PMID:18076122|PMID:19430481|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:22183348|PMID:22261762|PMID:22773737|PMID:23188109|PMID:23446637|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24066033|PMID:24625443|PMID:25640679|PMID:25741868|PMID:26673778|PMID:26766544|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562|PMID:29053603|PMID:29068479|PMID:30718709|PMID:9536098 12366518 IQCB1 IQ motif containing B1 gene DOID:12712 nephronophthisis ISO RGD:1320759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15723066|PMID:16199547|PMID:17576681|PMID:18076122|PMID:19430481|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:22183348|PMID:22261762|PMID:22773737|PMID:23188109|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24066033|PMID:24625443|PMID:24674142|PMID:25640679|PMID:25741868|PMID:25851290|PMID:26274329|PMID:26673778|PMID:26766544|PMID:27506978|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562|PMID:29053603|PMID:29068479|PMID:29186038|PMID:29219953|PMID:30718709|PMID:32531858|PMID:9536098 12366518 IQCB1 IQ motif containing B1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1320759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:15723066|PMID:20881296|PMID:21220633|PMID:21866095|PMID:21901789|PMID:23188109|PMID:23559409|PMID:24625443|PMID:25741868|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562 12366518 IQCB1 IQ motif containing B1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1320759 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 12366518 IQCB1 IQ motif containing B1 gene DOID:630 genetic disease ISO RGD:1320759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12366518 IQCB1 IQ motif containing B1 gene DOID:8501 fundus dystrophy ISO RGD:1320759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15723066|PMID:18076122|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:23188109|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24066033|PMID:24625443|PMID:25741868|PMID:25851290|PMID:26673778|PMID:28041643|PMID:28492532|PMID:28832562|PMID:29053603|PMID:29068479 12366518 IQCB1 IQ motif containing B1 gene DOID:9004221 Senior-Loken Syndrome 5 ISO RGD:1320759 D RGD:7240710 20180130 OMIM 12366518 IQCB1 IQ motif containing B1 gene DOID:9004221 Senior-Loken Syndrome 5 ISO RGD:1320759 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 5 PMID:15723066|PMID:17576681|PMID:18076122|PMID:19430481|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:22183348|PMID:22261762|PMID:22773737|PMID:23188109|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24066033|PMID:24625443|PMID:24674142|PMID:25741868|PMID:26274329|PMID:26673778|PMID:26766544|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562|PMID:29053603|PMID:29068479|PMID:30718709|PMID:9536098 12366518 IQCB1 IQ motif containing B1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1320759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12366518 IQCB1 IQ motif containing B1 gene DOID:9270 alkaptonuria ISO RGD:1320759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12366548 ERICH2 glutamate rich 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:6903373 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12366564 ANKRD26 ankyrin repeat domain containing 26 gene DOID:1588 thrombocytopenia ISO RGD:1314711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10521306|PMID:20626622|PMID:21211618|PMID:21467542|PMID:23677566|PMID:24430186|PMID:25539746|PMID:25741868|PMID:25902755|PMID:26175287|PMID:26884589|PMID:28109976|PMID:28277066|PMID:28492532|PMID:28669401|PMID:30747248|PMID:31064749|PMID:32351539|PMID:32581362|PMID:32659145|PMID:34355501 12366564 ANKRD26 ankyrin repeat domain containing 26 gene DOID:2213 hemorrhagic disease ISO RGD:1314711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532 12366564 ANKRD26 ankyrin repeat domain containing 26 gene DOID:2218 blood platelet disease ISO RGD:1314711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Platelet disorder PMID:23677566|PMID:25741868|PMID:31064749 12366564 ANKRD26 ankyrin repeat domain containing 26 gene DOID:630 genetic disease ISO RGD:1314711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12366564 ANKRD26 ankyrin repeat domain containing 26 gene DOID:9003390 Thrombocytopenia 2 ISO RGD:1314711 D RGD:7240710 20190116 OMIM 12366564 ANKRD26 ankyrin repeat domain containing 26 gene DOID:9003390 Thrombocytopenia 2 ISO RGD:1314711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 2 PMID:10521306|PMID:17666371|PMID:20626622|PMID:21211618|PMID:23677566|PMID:24430186|PMID:25539746|PMID:25741868|PMID:25902755|PMID:26175287|PMID:26884589|PMID:28100250|PMID:28277066|PMID:28492532|PMID:29185836|PMID:29545013|PMID:30747248|PMID:31064749|PMID:32581362|PMID:32659145|PMID:34355501 12366564 ANKRD26 ankyrin repeat domain containing 26 gene DOID:9006084 Gigantism ISO RGD:1558016 D RGD:9068941 20210115 RGD PMID:18162531|REF_RGD_ID:9681744 12366564 ANKRD26 ankyrin repeat domain containing 26 gene DOID:9007692 Insulin Resistance ISO RGD:1558016 D RGD:9068941 20210115 RGD PMID:18162531|REF_RGD_ID:9681744 12366564 ANKRD26 ankyrin repeat domain containing 26 gene DOID:9970 obesity ISO RGD:1558016 D RGD:9068941 20210115 RGD PMID:18162531|REF_RGD_ID:9681744 12366564 ANKRD26 ankyrin repeat domain containing 26 gene DOID:9970 obesity ISO RGD:1558016 D RGD:9068941 20220825 MouseDO OMIM:601665 12366608 TPD52L3 TPD52 like 3 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1606756 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12366608 TPD52L3 TPD52 like 3 gene DOID:630 genetic disease ISO RGD:1606756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366613 IARS1 isoleucyl-tRNA synthetase 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1317850 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 12366613 IARS1 isoleucyl-tRNA synthetase 1 gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1317850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 12366613 IARS1 isoleucyl-tRNA synthetase 1 gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1317850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 12366613 IARS1 isoleucyl-tRNA synthetase 1 gene DOID:1059 intellectual disability ISO RGD:1317850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12366613 IARS1 isoleucyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1317850 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11584022|PMID:15733854|PMID:28492532 12366613 IARS1 isoleucyl-tRNA synthetase 1 gene DOID:9002230 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY ISO RGD:1317850 D RGD:7240710 20190315 OMIM 12366613 IARS1 isoleucyl-tRNA synthetase 1 gene DOID:9002230 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY ISO RGD:1317850 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy PMID:24706940|PMID:25741868|PMID:27426735|PMID:27891590|PMID:28492532 12366613 IARS1 isoleucyl-tRNA synthetase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1317850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:21887725|PMID:25741868|PMID:26820365|PMID:28492532|PMID:30391667|PMID:30535908 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0050451 Brugada syndrome ISO RGD:1348019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:17576681|PMID:20562447|PMID:21887725|PMID:23382873|PMID:25741868|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:29618732|PMID:29706348|PMID:30021168|PMID:30142439|PMID:619595|PMID:9536098 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0050562 West syndrome ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypsarrhythmia PMID:25741868|PMID:28492532 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0050700 cardiomyopathy ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:21887725|PMID:23382873|PMID:25467552|PMID:25741868|PMID:26820365|PMID:27207958|PMID:27711072|PMID:28492532 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0050793 short QT syndrome ISO RGD:1348019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Short QT syndrome PMID:25741868 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0050820 atrioventricular block ISO RGD:1348019 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:32681584|PMID:33959666 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0060319 cardiac arrest ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:28492532 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0060319 cardiac arrest treatment ISO RGD:620244 D RGD:9068941 20200609 RGD PMID:26010685|REF_RGD_ID:12791997 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0080766 erythrokeratodermia variabilis et progressiva 6 ISO RGD:1348019 D RGD:7240710 20190904 OMIM 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0080766 erythrokeratodermia variabilis et progressiva 6 ISO RGD:1348019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 6 PMID:16199547|PMID:17576681|PMID:25299611|PMID:25741868|PMID:26046366|PMID:26820365|PMID:28492532|PMID:28750076|PMID:29247119|PMID:30391667|PMID:30528822|PMID:30535908|PMID:30615648|PMID:30847666|PMID:9536098 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0111073 progressive familial heart block ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: Progressive familial heart block PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0111074 progressive familial heart block type IA ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA PMID:20562447|PMID:21887725|PMID:28492532|PMID:30021168|PMID:619595 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0111074 progressive familial heart block type IA ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0111076 progressive familial heart block type IB ISO RGD:1348019 D RGD:7240710 20180130 OMIM 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:0111076 progressive familial heart block type IB ISO RGD:1348019 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type 1B | ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:16199547|PMID:17576681|PMID:19726882|PMID:20075334|PMID:20562447|PMID:21173080|PMID:21887725|PMID:22750058|PMID:23382873|PMID:24019741|PMID:25231975|PMID:25299611|PMID:25416190|PMID:25441424|PMID:25467552|PMID:25640679|PMID:25741868|PMID:26046366|PMID:26272755|PMID:26350513|PMID:26383259|PMID:26636822|PMID:26704558|PMID:26820365|PMID:27181684|PMID:27207958|PMID:27711072|PMID:27727376|PMID:27884173|PMID:28074886|PMID:28315637|PMID:28341588|PMID:28492532|PMID:28494446|PMID:28750076|PMID:28831623|PMID:29181379|PMID:29247119|PMID:29568272|PMID:29618732|PMID:29706348|PMID:29748318|PMID:30021168|PMID:30142439|PMID:30391667|PMID:30528822|PMID:30535908|PMID:30615648|PMID:30662450|PMID:30847666|PMID:32508047|PMID:33466149|PMID:35932045|PMID:619595|PMID:897853|PMID:9536098 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:10273 heart conduction disease ISO RGD:1348019 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conduction system disorder PMID:28492532 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1348019 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23382873|PMID:25741868|PMID:28492532 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:13620 patent foramen ovale ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Patent foramen ovale PMID:25741868|PMID:28492532 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:1826 epilepsy ISO RGD:1348019 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:2661 myoepithelioma ISO RGD:1348019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:2843 long QT syndrome ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1348019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:397 restrictive cardiomyopathy ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:25741868|PMID:28492532 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:6000 congestive heart failure ISO RGD:1348019 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:33594499 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:630 genetic disease ISO RGD:1348019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21887725|PMID:25741868|PMID:28492532|PMID:32037394 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:620244 D RGD:9068941 20200609 RGD PMID:19169264|PMID:25763638|REF_RGD_ID:10003030|REF_RGD_ID:12791993 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:21887725|PMID:25741868|PMID:26820365|PMID:28492532 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:620244 D RGD:9068941 20200609 RGD protein:increased expression:entorhinal cortex PMID:24114458|REF_RGD_ID:10003028 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9001276 Failure to Thrive ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:28492532 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:21887725|PMID:23382873|PMID:25416190|PMID:25741868|PMID:28492532 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9002554 Tachycardia ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Tachycardia PMID:25741868|PMID:28492532 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1348019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:17576681|PMID:20562447|PMID:21887725|PMID:23382873|PMID:25741868|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:29618732|PMID:29706348|PMID:30021168|PMID:30142439|PMID:619595|PMID:9536098 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9003163 Heart Block ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:21887725|PMID:23382873|PMID:25416190|PMID:25741868|PMID:28492532 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9003936 Cardiomegaly ISO RGD:620244 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:16966582|REF_RGD_ID:10003036 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9004659 Respiration Disorders ISO RGD:1348019 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:30789900 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9007001 Bradycardia ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Bradycardia PMID:25741868|PMID:28492532 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9007820 Sudden Death ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:25741868 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Family history of sudden cardiac death | ClinVar Annotator: match by term: Sudden cardiac death PMID:21887725|PMID:23382873|PMID:24019741|PMID:25416190|PMID:25741868|PMID:26350513|PMID:28074886|PMID:28492532|PMID:30142439 12366654 TRPM4 transient receptor potential cation channel subfamily M member 4 gene DOID:9009094 Progressive Familial Heart Block Type I ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Heart block progressive familial type 1 PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 12366700 PGM2L1 phosphoglucomutase 2 like 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1316099 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12366700 PGM2L1 phosphoglucomutase 2 like 1 gene DOID:1059 intellectual disability ISO RGD:1316099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12366700 PGM2L1 phosphoglucomutase 2 like 1 gene DOID:630 genetic disease ISO RGD:1316099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366700 PGM2L1 phosphoglucomutase 2 like 1 gene DOID:9003945 Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities ISO RGD:1316099 D RGD:7240710 20230125 OMIM 12366700 PGM2L1 phosphoglucomutase 2 like 1 gene DOID:9003945 Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities ISO RGD:1316099 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities PMID:33979636 12366719 SLC32A1 solute carrier family 32 member 1 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:1346344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus 12366719 SLC32A1 solute carrier family 32 member 1 gene DOID:1826 epilepsy ISO RGD:1346344 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12366719 SLC32A1 solute carrier family 32 member 1 gene DOID:2234 focal epilepsy ISO RGD:1346344 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12366719 SLC32A1 solute carrier family 32 member 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:1553492 D RGD:9068941 20220825 MouseDO 12366719 SLC32A1 solute carrier family 32 member 1 gene DOID:630 genetic disease ISO RGD:1346344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366725 SOHLH2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 gene DOID:630 genetic disease ISO RGD:5013869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366740 NKX3-1 NK3 homeobox 1 gene DOID:10283 prostate cancer ISO RGD:1313355 D RGD:9068941 20220825 MouseDO OMIM:176807 | OMIM:300147 | OMIM:300704 | OMIM:601518 | OMIM:602759 | OMIM:608656 | OMIM:608658 | OMIM:609299 | OMIM:609558 | OMIM:610321 | OMIM:610997 | OMIM:611100 | OMIM:611868 | OMIM:611928 | OMIM:611955 | OMIM:611958 | OMIM:611959 12366740 NKX3-1 NK3 homeobox 1 gene DOID:13938 amenorrhea ISO RGD:1313354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12366740 NKX3-1 NK3 homeobox 1 gene DOID:630 genetic disease ISO RGD:1313354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366740 NKX3-1 NK3 homeobox 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1313354 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:28972178|REF_RGD_ID:14401599 12366740 NKX3-1 NK3 homeobox 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1313354 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:28972178|REF_RGD_ID:14401599 12366740 NKX3-1 NK3 homeobox 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313354 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism PMID:16817226|PMID:17173048|PMID:17202838|PMID:22610119|PMID:32690948 12366740 NKX3-1 NK3 homeobox 1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1313354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12366745 PXDNL peroxidasin like gene DOID:630 genetic disease ISO RGD:1606718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366777 CASR calcium sensing receptor gene DOID:0050450 Gitelman syndrome ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia 12366777 CASR calcium sensing receptor gene DOID:0050700 cardiomyopathy ISO RGD:2277 D RGD:9068941 20200609 RGD associated with Uremia PMID:19188910|REF_RGD_ID:7205661 12366777 CASR calcium sensing receptor gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:10291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial benign hypercalcemia | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis PMID:10023897|PMID:10077597|PMID:10217111|PMID:10468915|PMID:10488104|PMID:10770217|PMID:10843194|PMID:10885494|PMID:10912749|PMID:10912782|PMID:10971459|PMID:11013439|PMID:11102444|PMID:11136551|PMID:11161843|PMID:11248745|PMID:11580999|PMID:11668634|PMID:11701698|PMID:11733622|PMID:11762699|PMID:11763315|PMID:11807402|PMID:11889154|PMID:11889203|PMID:12018449|PMID:12040821|PMID:12052452|PMID:12067826|PMID:12095982|PMID:12114500|PMID:12162500|PMID:12239240|PMID:12574188|PMID:12574201|PMID:12580936|PMID:12733714|PMID:12890593|PMID:1302026|PMID:14089114|PMID:14508624|PMID:14519094|PMID:14602739|PMID:14714270|PMID:14985373|PMID:14997007|PMID:15241688|PMID:15292296|PMID:15531522|PMID:15551332|PMID:15572418|PMID:15591042|PMID:15598778|PMID:15699544|PMID:15751724|PMID:15864123|PMID:15879434|PMID:15963484|PMID:16128246|PMID:16199547|PMID:16491288|PMID:16497624|PMID:16598859|PMID:16642557|PMID:16649980|PMID:16740594|PMID:16918956|PMID:17018660|PMID:17039419|PMID:1706284|PMID:17117288|PMID:17121537|PMID:17284438|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17473068|PMID:17478419|PMID:17555508|PMID:17576681|PMID:17698911|PMID:17803689|PMID:17974727|PMID:17979873|PMID:18219222|PMID:18296474|PMID:18328986|PMID:18410554|PMID:18680227|PMID:18751724|PMID:18756473|PMID:18796518|PMID:18830196|PMID:18887540|PMID:1889203|PMID:18938753|PMID:19073830|PMID:19102677|PMID:19179454|PMID:19389809|PMID:19423559|PMID:19549694|PMID:19694204|PMID:19759318|PMID:19763152|PMID:19779033|PMID:19789209|PMID:19953642|PMID:20034274|PMID:20119591|PMID:20164288|PMID:20307669|PMID:20335782|PMID:20335783|PMID:20374733|PMID:20495831|PMID:20501971|PMID:20602573|PMID:20668040|PMID:20798521|PMID:20972686|PMID:21135065|PMID:21175100|PMID:21185797|PMID:21239511|PMID:21289269|PMID:21369680|PMID:21414629|PMID:21441391|PMID:21471599|PMID:21521328|PMID:21645025|PMID:21844754|PMID:22024717|PMID:22142470|PMID:22187299|PMID:22192860|PMID:22232026|PMID:22331334|PMID:22406018|PMID:22422767|PMID:22620673|PMID:22789683|PMID:22798347|PMID:23077345|PMID:23081733|PMID:23169696|PMID:23186954|PMID:23265383|PMID:23372019|PMID:23764372|PMID:23856262|PMID:23966241|PMID:24033266|PMID:24133354|PMID:24203066|PMID:24244430|PMID:24297799|PMID:24394414|PMID:24517148|PMID:24735972|PMID:2476381|PMID:24763815|PMID:24823460|PMID:24854525|PMID:24947037|PMID:24948345|PMID:25045523|PMID:25091521|PMID:25104082|PMID:25137426|PMID:25292184|PMID:25320261|PMID:25420019|PMID:25701758|PMID:25705702|PMID:25741868|PMID:25765207|PMID:25766501|PMID:25792032|PMID:25828954|PMID:25977473|PMID:26107257|PMID:26161261|PMID:26166472|PMID:26290606|PMID:26323216|PMID:26467025|PMID:26646938|PMID:26855056|PMID:26963950|PMID:27086061|PMID:27157104|PMID:27390877|PMID:27418061|PMID:27434672|PMID:27666534|PMID:27739473|PMID:27957351|PMID:28176280|PMID:28492532|PMID:28870973|PMID:29026550|PMID:29354167|PMID:29375828|PMID:2983592|PMID:29846619|PMID:29848507|PMID:30019023|PMID:30052933|PMID:30306783|PMID:30407919|PMID:30895164|PMID:31063613|PMID:31189130|PMID:31433865|PMID:31433868|PMID:31672324|PMID:3169696|PMID:31883284|PMID:31967040|PMID:32160303|PMID:32347971|PMID:32386559|PMID:32430905|PMID:32638038|PMID:32761341|PMID:32871939|PMID:32892159|PMID:33094630|PMID:33147586|PMID:33258288|PMID:33434173|PMID:34008892|PMID:34024353|PMID:34088669|PMID:34160437|PMID:34887979|PMID:35733207|PMID:3966479|PMID:6543841|PMID:7054696|PMID:7717399|PMID:7726161|PMID:7791841|PMID:7874174|PMID:791660|PMID:7916660|PMID:8132750|PMID:8636323|PMID:8675635|PMID:8698326|PMID:8702647|PMID:8733126|PMID:8813042|PMID:8878438|PMID:9011580|PMID:9039332|PMID:9109436|PMID:9179454|PMID:9217223|PMID:9253359|PMID:9395465|PMID:9422777|PMID:9507434|PMID:9536098|PMID:9661634 12366777 CASR calcium sensing receptor gene DOID:0060700 familial hypocalciuric hypercalcemia 1 ISO RGD:10291 D RGD:7240710 20230505 OMIM 12366777 CASR calcium sensing receptor gene DOID:0060700 familial hypocalciuric hypercalcemia 1 ISO RGD:10291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 | ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1 PMID:10023897|PMID:10077597|PMID:10217111|PMID:10468915|PMID:10770217|PMID:10843194|PMID:10885494|PMID:10912749|PMID:10912782|PMID:10971459|PMID:11013439|PMID:11102444|PMID:11134112|PMID:11136551|PMID:11161843|PMID:11231970|PMID:11248745|PMID:11580999|PMID:11668634|PMID:11701698|PMID:11733622|PMID:11762699|PMID:11763315|PMID:11807402|PMID:11889203|PMID:12018449|PMID:12040821|PMID:12052452|PMID:12067826|PMID:12095982|PMID:12107202|PMID:12114500|PMID:12191970|PMID:12239240|PMID:12469911|PMID:12574201|PMID:12580936|PMID:12733714|PMID:12890593|PMID:1302026|PMID:14089114|PMID:14508624|PMID:14985373|PMID:14997007|PMID:15292296|PMID:15531522|PMID:15572418|PMID:15579740|PMID:15591042|PMID:15598778|PMID:15699544|PMID:15751724|PMID:15864123|PMID:15879434|PMID:16199547|PMID:16491288|PMID:16497624|PMID:16598859|PMID:16642557|PMID:16740594|PMID:17018660|PMID:1706284|PMID:17117288|PMID:17284438|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17473068|PMID:17478419|PMID:17555508|PMID:17698911|PMID:17803689|PMID:17974727|PMID:18328986|PMID:18680227|PMID:18751724|PMID:18756473|PMID:18796518|PMID:18830196|PMID:18887540|PMID:1889203|PMID:18938753|PMID:19102677|PMID:19179454|PMID:19389809|PMID:19423559|PMID:19694204|PMID:19759318|PMID:19779033|PMID:20119591|PMID:20164288|PMID:20290361|PMID:20602573|PMID:20668040|PMID:20798521|PMID:20972686|PMID:21239511|PMID:21289269|PMID:21369680|PMID:21414629|PMID:21521328|PMID:21645025|PMID:22024717|PMID:2211966|PMID:22142470|PMID:22192860|PMID:22232026|PMID:22331334|PMID:22422767|PMID:22789683|PMID:22798347|PMID:23077345|PMID:23169696|PMID:23372019|PMID:23966241|PMID:24033266|PMID:24133354|PMID:24203066|PMID:24297799|PMID:24735972|PMID:24947037|PMID:25091521|PMID:25104082|PMID:25137426|PMID:25292184|PMID:25420019|PMID:25701758|PMID:25705702|PMID:25741868|PMID:25792032|PMID:25828954|PMID:26107257|PMID:26161261|PMID:26166472|PMID:26467025|PMID:26646938|PMID:26855056|PMID:26963950|PMID:27086061|PMID:27157104|PMID:27434672|PMID:27666534|PMID:27739473|PMID:27957351|PMID:28176280|PMID:28492532|PMID:29026550|PMID:29846619|PMID:29848507|PMID:30407919|PMID:30895164|PMID:31433868|PMID:31672324|PMID:32347971|PMID:32386559|PMID:32638038|PMID:32761341|PMID:33258288|PMID:34008892|PMID:34024353|PMID:34088669|PMID:3966479|PMID:5013415|PMID:6543841|PMID:7054696|PMID:7673400|PMID:7717399|PMID:7726161|PMID:7791841|PMID:7874174|PMID:791660|PMID:7916660|PMID:8132750|PMID:8636323|PMID:8675635|PMID:8702647|PMID:8733126|PMID:8878438|PMID:9011580|PMID:9109436|PMID:9422777 12366777 CASR calcium sensing receptor gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:10291 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R990G (rs1042636)(human) PMID:17018660|REF_RGD_ID:13464331 12366777 CASR calcium sensing receptor gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:10291 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.A986S, p.E1011Q (human) PMID:20602573|REF_RGD_ID:7205445 12366777 CASR calcium sensing receptor gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:10291 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS4+11988A>G rs17251221 (human) PMID:21966463|REF_RGD_ID:7205446 12366777 CASR calcium sensing receptor gene DOID:0080652 calcium oxalate nephrolithiasis susceptibility ISO RGD:10291 D RGD:9068941 20200609 RGD associated with Hyperparathyroidism, Primary; DNA:snp:intron:IVS1 G>A rs1501899 (human) PMID:21183554|REF_RGD_ID:7205447 12366777 CASR calcium sensing receptor gene DOID:0090107 autosomal dominant hypocalcemia 1 ISO RGD:10291 D RGD:7240710 20230505 OMIM 12366777 CASR calcium sensing receptor gene DOID:0090107 autosomal dominant hypocalcemia 1 ISO RGD:10291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 1 | ClinVar Annotator: match by term: HYPOCALCEMIA, FAMILIAL PMID:10023897|PMID:10077597|PMID:10217111|PMID:10487661|PMID:10770217|PMID:10912749|PMID:10912782|PMID:11102444|PMID:11134112|PMID:11136551|PMID:11152759|PMID:11161843|PMID:11248745|PMID:11580999|PMID:11701698|PMID:11733622|PMID:11807402|PMID:11889203|PMID:12018449|PMID:12040821|PMID:12050233|PMID:12052452|PMID:12067826|PMID:12095982|PMID:12107202|PMID:12114500|PMID:12191970|PMID:12239240|PMID:12241879|PMID:12574188|PMID:12574201|PMID:12733714|PMID:12915654|PMID:14508624|PMID:14519094|PMID:14985373|PMID:14997007|PMID:15531522|PMID:15598778|PMID:15864123|PMID:15879434|PMID:16128246|PMID:16497624|PMID:16608894|PMID:17018660|PMID:17039419|PMID:1706284|PMID:17117288|PMID:17284438|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17555508|PMID:17576681|PMID:17698911|PMID:18328986|PMID:18680227|PMID:18756473|PMID:19179454|PMID:19389809|PMID:19694204|PMID:19779033|PMID:20119591|PMID:20164288|PMID:20501971|PMID:20602573|PMID:20668040|PMID:21239511|PMID:21414629|PMID:21441391|PMID:21521328|PMID:21645025|PMID:22024717|PMID:22192860|PMID:22422767|PMID:22789683|PMID:22798347|PMID:23077345|PMID:23186954|PMID:23372019|PMID:24033266|PMID:24133354|PMID:24297799|PMID:24823460|PMID:24948345|PMID:25137426|PMID:25292184|PMID:25326635|PMID:25420019|PMID:25705702|PMID:25741868|PMID:26107257|PMID:26166472|PMID:26323216|PMID:26467025|PMID:26646938|PMID:27157104|PMID:27390877|PMID:27957351|PMID:28492532|PMID:29846619|PMID:30895164|PMID:31672324|PMID:31883284|PMID:34008892|PMID:7874174|PMID:7916660|PMID:8636323|PMID:8675635|PMID:8698326|PMID:8702647|PMID:8733126|PMID:8813042|PMID:8878438|PMID:9253358|PMID:9422777|PMID:9536098|PMID:9661634|PMID:9920108 12366777 CASR calcium sensing receptor gene DOID:0090109 autosomal dominant hypocalcemia ISO RGD:10291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypocalcemia PMID:11136551|PMID:11701698|PMID:12067826|PMID:12574188|PMID:12733714|PMID:14519094|PMID:17039419|PMID:19179454|PMID:20119591|PMID:20668040|PMID:21645025|PMID:22422767|PMID:22789683|PMID:24133354|PMID:24297799|PMID:24823460|PMID:24948345|PMID:25137426|PMID:25420019|PMID:25741868|PMID:26467025|PMID:28492532 12366777 CASR calcium sensing receptor gene DOID:0111322 idiopathic generalized epilepsy 8 ISO RGD:10291 D RGD:7240710 20230505 OMIM 12366777 CASR calcium sensing receptor gene DOID:0111322 idiopathic generalized epilepsy 8 ISO RGD:10291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 8 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 8 PMID:11807402|PMID:12107202|PMID:12191970|PMID:15879434|PMID:16598859|PMID:17284438|PMID:17698911|PMID:18756473|PMID:19389809|PMID:19779033|PMID:20164288|PMID:20798521|PMID:21414629|PMID:21521328|PMID:22192860|PMID:22422767|PMID:22798347|PMID:23372019|PMID:24133354|PMID:25741868|PMID:26467025|PMID:26963950|PMID:27957351|PMID:28492532|PMID:29026550|PMID:29846619|PMID:30407919|PMID:31672324|PMID:32347971|PMID:8675635|PMID:8878438 12366777 CASR calcium sensing receptor gene DOID:0111387 familial isolated hypoparathyroidism ISO RGD:10291 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial isolated hypoparathyroidism PMID:10023897|PMID:10217111|PMID:10912749|PMID:11161843|PMID:11248745|PMID:11580999|PMID:11733622|PMID:11807402|PMID:12018449|PMID:12040821|PMID:12052452|PMID:12239240|PMID:12574201|PMID:14508624|PMID:14997007|PMID:15531522|PMID:15598778|PMID:15864123|PMID:15879434|PMID:16497624|PMID:17018660|PMID:1706284|PMID:17117288|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17555508|PMID:17698911|PMID:18328986|PMID:18680227|PMID:18756473|PMID:19694204|PMID:20164288|PMID:20602573|PMID:21414629|PMID:21521328|PMID:21645025|PMID:22024717|PMID:22192860|PMID:22422767|PMID:24033266|PMID:24133354|PMID:25292184|PMID:25705702|PMID:25741868|PMID:26107257|PMID:26166472|PMID:26467025|PMID:26646938|PMID:27157104|PMID:27957351|PMID:28492532|PMID:29846619|PMID:30895164|PMID:8636323 12366777 CASR calcium sensing receptor gene DOID:10283 prostate cancer ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 12366777 CASR calcium sensing receptor gene DOID:1059 intellectual disability ISO RGD:10291 D RGD:9068941 20200609 RGD associated with Hypocalciuric Hypercalcemia, Familial, Type 1; DNA:deletion:exon:c.1952_1966del (human) PMID:21667241|REF_RGD_ID:7205468 12366777 CASR calcium sensing receptor gene DOID:10609 rickets ISO RGD:1553551 D RGD:9068941 20200609 RGD PMID:12671052|REF_RGD_ID:734698 12366777 CASR calcium sensing receptor gene DOID:11199 hypoparathyroidism ISO RGD:10291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11701698 12366777 CASR calcium sensing receptor gene DOID:11202 primary hyperparathyroidism ISO RGD:10291 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial benign hypercalcemia PMID:10023897|PMID:10217111|PMID:10912749|PMID:11161843|PMID:11248745|PMID:11580999|PMID:11733622|PMID:11807402|PMID:12018449|PMID:12040821|PMID:12052452|PMID:12239240|PMID:12574201|PMID:14508624|PMID:14997007|PMID:15531522|PMID:15598778|PMID:15864123|PMID:15879434|PMID:16497624|PMID:17018660|PMID:1706284|PMID:17117288|PMID:17284438|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17555508|PMID:17698911|PMID:18328986|PMID:18680227|PMID:18756473|PMID:19179454|PMID:19389809|PMID:19694204|PMID:19779033|PMID:20164288|PMID:20602573|PMID:21414629|PMID:21521328|PMID:21645025|PMID:22024717|PMID:22192860|PMID:22422767|PMID:22798347|PMID:23372019|PMID:24033266|PMID:24133354|PMID:25292184|PMID:25705702|PMID:25741868|PMID:26107257|PMID:26166472|PMID:26467025|PMID:26646938|PMID:27157104|PMID:27957351|PMID:28492532|PMID:29846619|PMID:30895164|PMID:8636323|PMID:8675635|PMID:8878438 12366777 CASR calcium sensing receptor gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:10291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17284438|PMID:19389809|PMID:19779033|PMID:22798347|PMID:23372019|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8675635|PMID:8878438 12366777 CASR calcium sensing receptor gene DOID:12466 secondary hyperparathyroidism ISO RGD:10291 D RGD:9068941 20200609 RGD protein:decreased expression:parathyroid gland (human) PMID:11044218|REF_RGD_ID:7205664 12366777 CASR calcium sensing receptor gene DOID:12466 secondary hyperparathyroidism severity ISO RGD:10291 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic;DNA:missense mutations:cds:p.R990G, p.Q1011E (human) PMID:19640368|REF_RGD_ID:7205505 12366777 CASR calcium sensing receptor gene DOID:12678 hypercalcemia ISO RGD:10291 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypercalcemia PMID:17284438|PMID:19389809|PMID:19779033|PMID:22798347|PMID:23372019|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31672324|PMID:8675635|PMID:8878438 12366777 CASR calcium sensing receptor gene DOID:13543 hyperparathyroidism ISO RGD:10291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11589681|PMID:9011580 12366777 CASR calcium sensing receptor gene DOID:13543 hyperparathyroidism ISO RGD:1553551 D RGD:9068941 20200609 RGD PMID:12671052|REF_RGD_ID:734698 12366777 CASR calcium sensing receptor gene DOID:13543 hyperparathyroidism ISO RGD:1553551 D RGD:9068941 20220825 MouseDO OMIM:145000 | OMIM:145001 | OMIM:610071 12366777 CASR calcium sensing receptor gene DOID:1612 breast cancer ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm PMID:10023897|PMID:10217111|PMID:10912749|PMID:11161843|PMID:11248745|PMID:11580999|PMID:11733622|PMID:12018449|PMID:12040821|PMID:12052452|PMID:12239240|PMID:12574201|PMID:14508624|PMID:14997007|PMID:15531522|PMID:15864123|PMID:16497624|PMID:17018660|PMID:17117288|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17555508|PMID:17698911|PMID:18328986|PMID:18680227|PMID:19694204|PMID:20602573|PMID:22024717|PMID:24033266|PMID:25705702|PMID:25741868|PMID:26107257|PMID:26467025|PMID:28492532|PMID:8636323 12366777 CASR calcium sensing receptor gene DOID:1827 idiopathic generalized epilepsy ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:25741868 12366777 CASR calcium sensing receptor gene DOID:1936 atherosclerosis ISO RGD:10291 D RGD:9068941 20200609 RGD protein:decreased expression:tibial artery (human) PMID:18852253|REF_RGD_ID:7205454 12366777 CASR calcium sensing receptor gene DOID:1936 atherosclerosis ISO RGD:2277 D RGD:9068941 20200609 RGD protein:increased expression:myocardium (rat) PMID:22527939|REF_RGD_ID:7205672 12366777 CASR calcium sensing receptor gene DOID:5844 myocardial infarction ISO RGD:2277 D RGD:9068941 20200609 RGD protein:increased expression:myocardium (rat) PMID:22527939|REF_RGD_ID:7205672 12366777 CASR calcium sensing receptor gene DOID:585 nephrolithiasis ISO RGD:10291 D RGD:9068941 20200609 RGD DNA:snps, haplotypes:multiple (human) PMID:20067903|REF_RGD_ID:7205448 12366777 CASR calcium sensing receptor gene DOID:630 genetic disease ISO RGD:10291 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10023897|PMID:10217111|PMID:10468915|PMID:10912749|PMID:10971459|PMID:11089548|PMID:11161843|PMID:11231970|PMID:11248745|PMID:11580999|PMID:11668634|PMID:11733622|PMID:11763315|PMID:11807402|PMID:12018449|PMID:12040821|PMID:12052452|PMID:12239240|PMID:12469911|PMID:12574201|PMID:12580936|PMID:14089114|PMID:14508624|PMID:14714270|PMID:14985373|PMID:14997007|PMID:15292296|PMID:15531522|PMID:15579740|PMID:15598778|PMID:15864123|PMID:15879434|PMID:16199547|PMID:16497624|PMID:16598859|PMID:16649980|PMID:16740594|PMID:16918956|PMID:17018660|PMID:1706284|PMID:17117288|PMID:17121537|PMID:17284438|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17555508|PMID:17576681|PMID:17698911|PMID:18328986|PMID:18680227|PMID:18756473|PMID:18796518|PMID:18887540|PMID:18938753|PMID:19179454|PMID:19389809|PMID:19694204|PMID:19759318|PMID:19915295|PMID:20164288|PMID:20602573|PMID:20668040|PMID:20798521|PMID:20846291|PMID:21414629|PMID:21521328|PMID:21645025|PMID:22024717|PMID:22192860|PMID:22422767|PMID:22620673|PMID:23265383|PMID:23856262|PMID:23966241|PMID:24033266|PMID:24133354|PMID:24394414|PMID:24517148|PMID:24735972|PMID:24823460|PMID:24854525|PMID:24947037|PMID:25104082|PMID:25292184|PMID:25705702|PMID:25741868|PMID:26107257|PMID:26166472|PMID:26467025|PMID:26646938|PMID:26963950|PMID:27086061|PMID:27157104|PMID:27390877|PMID:27666534|PMID:27957351|PMID:28176280|PMID:28492532|PMID:29026550|PMID:29636377|PMID:29846619|PMID:30376845|PMID:30407919|PMID:30895164|PMID:31189130|PMID:31433868|PMID:31672324|PMID:31883284|PMID:32347971|PMID:32386559|PMID:32638038|PMID:32871939|PMID:33094630|PMID:34024353|PMID:34160437|PMID:35733207|PMID:3966479|PMID:7673400|PMID:8636323|PMID:8675635|PMID:8733126|PMID:8813042|PMID:8878438|PMID:9536098 12366777 CASR calcium sensing receptor gene DOID:6432 pulmonary hypertension ISO RGD:2277 D RGD:9068941 20200609 RGD protein:increased expression:pulmonary artery (rat) PMID:22730443|REF_RGD_ID:7205669 12366777 CASR calcium sensing receptor gene DOID:7608 parathyroid adenoma ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid adenoma PMID:17284438|PMID:19389809|PMID:19779033|PMID:22798347|PMID:23372019|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8675635|PMID:8878438 12366777 CASR calcium sensing receptor gene DOID:783 end stage renal disease ISO RGD:10291 D RGD:9068941 20200609 RGD protein:decreased expression:epigastric artery (human) PMID:17537980|REF_RGD_ID:7205455 12366777 CASR calcium sensing receptor gene DOID:9000874 Hyperparathyroidism, Neonatal Severe Primary ISO RGD:10291 D RGD:7240710 20230505 OMIM 12366777 CASR calcium sensing receptor gene DOID:9000874 Hyperparathyroidism, Neonatal Severe Primary ISO RGD:10291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal severe hyperparathyroidism | ClinVar Annotator: match by term: Neonatal severe primary hyperparathyroidism PMID:10023897|PMID:10217111|PMID:10770217|PMID:10885494|PMID:10912749|PMID:11013439|PMID:11161843|PMID:11231970|PMID:11248745|PMID:11580999|PMID:11733622|PMID:11763315|PMID:11807402|PMID:11889203|PMID:12018449|PMID:12040821|PMID:12052452|PMID:12095982|PMID:12107202|PMID:12114500|PMID:12191970|PMID:12239240|PMID:12469911|PMID:12574201|PMID:12890593|PMID:1302026|PMID:14508624|PMID:14997007|PMID:15292296|PMID:15531522|PMID:15572418|PMID:15598778|PMID:15751724|PMID:15864123|PMID:15879434|PMID:16497624|PMID:16642557|PMID:17018660|PMID:1706284|PMID:17117288|PMID:17284438|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17473068|PMID:17478419|PMID:17555508|PMID:17698911|PMID:17803689|PMID:17974727|PMID:18219222|PMID:18328986|PMID:18680227|PMID:18751724|PMID:18756473|PMID:18830196|PMID:1889203|PMID:19102677|PMID:19179454|PMID:19389809|PMID:19423559|PMID:19694204|PMID:19759318|PMID:19779033|PMID:20164288|PMID:20290361|PMID:20602573|PMID:21289269|PMID:21414629|PMID:21521328|PMID:21645025|PMID:22024717|PMID:2211966|PMID:22142470|PMID:22192860|PMID:22331334|PMID:22422767|PMID:22798347|PMID:23077345|PMID:23372019|PMID:23764372|PMID:23966241|PMID:24033266|PMID:24133354|PMID:24203066|PMID:24854525|PMID:24947037|PMID:25091521|PMID:25292184|PMID:25701758|PMID:25705702|PMID:25741868|PMID:25792032|PMID:25828954|PMID:26107257|PMID:26161261|PMID:26166472|PMID:26467025|PMID:26646938|PMID:26855056|PMID:26963950|PMID:27157104|PMID:27434672|PMID:27666534|PMID:27739473|PMID:27957351|PMID:28176280|PMID:28492532|PMID:29846619|PMID:29848507|PMID:30895164|PMID:31189130|PMID:31433868|PMID:31672324|PMID:32761341|PMID:33258288|PMID:34088669|PMID:5013415|PMID:6543841|PMID:7054696|PMID:7717399|PMID:7726161|PMID:7791841|PMID:791660|PMID:7916660|PMID:8636323|PMID:8675635|PMID:8702647|PMID:8878438|PMID:9011580|PMID:9109436|PMID:9253359 12366777 CASR calcium sensing receptor gene DOID:9001542 Albuminuria ISO RGD:2277 D RGD:9068941 20200609 RGD associated with Uremia PMID:19188910|REF_RGD_ID:7205661 12366777 CASR calcium sensing receptor gene DOID:9001738 Hypercalciuria ISO RGD:10291 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.E1011Q (human) PMID:20602573|REF_RGD_ID:7205445 12366777 CASR calcium sensing receptor gene DOID:9001738 Hypercalciuria ISO RGD:2277 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (rat) PMID:22137721|REF_RGD_ID:7205675 12366777 CASR calcium sensing receptor gene DOID:9001738 Hypercalciuria no_association ISO RGD:10291 D RGD:9068941 20200609 RGD associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutations:cds:p.A986S, p.R990G, p.E1011Q (human) PMID:19887834|REF_RGD_ID:7205502 12366777 CASR calcium sensing receptor gene DOID:9001738 Hypercalciuria susceptibility ISO RGD:10291 D RGD:9068941 20200609 RGD associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutation:cds:p.R990G (human) PMID:12239240|REF_RGD_ID:7205666 12366777 CASR calcium sensing receptor gene DOID:9002669 Hypoxia ISO RGD:2277 D RGD:9068941 20200609 RGD PMID:22098336|REF_RGD_ID:7205678 12366777 CASR calcium sensing receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12366777 CASR calcium sensing receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2277 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, liver, kidney (rat) PMID:22844268|REF_RGD_ID:7205442 12366777 CASR calcium sensing receptor gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:2277 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium (rat) PMID:22137362|REF_RGD_ID:7205677 12366777 CASR calcium sensing receptor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:10291 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11807402|PMID:17698911|PMID:20164288|PMID:21521328|PMID:22192860|PMID:22422767|PMID:24133354|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29846619|PMID:30895164|PMID:33094630 12366777 CASR calcium sensing receptor gene DOID:9007257 Autosomal Dominant Hypocalcemia, with Bartter Syndrome ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome PMID:11152759|PMID:12107202|PMID:12191970|PMID:12241879|PMID:15005845|PMID:17048213|PMID:25741868 12366777 CASR calcium sensing receptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2277 D RGD:9068941 20200609 RGD protein:increased expression:ventricular myocardium (rat) PMID:21766206|REF_RGD_ID:7205698 12366777 CASR calcium sensing receptor gene DOID:9008086 Developmental Disabilities ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12366777 CASR calcium sensing receptor gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12366777 CASR calcium sensing receptor gene DOID:9009050 Hypocalcemia ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypocalcemia PMID:25741868|PMID:28492532 12366777 CASR calcium sensing receptor gene DOID:9270 alkaptonuria ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12366798 SI sucrase-isomaltase gene DOID:0060180 colitis ISO RGD:3675 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:ileum PMID:16964428|REF_RGD_ID:1625545 12366798 SI sucrase-isomaltase gene DOID:0111633 congenital sucrase-isomaltase deficiency ISO RGD:1352166 D RGD:7240710 20180130 OMIM 12366798 SI sucrase-isomaltase gene DOID:0111633 congenital sucrase-isomaltase deficiency ISO RGD:1352166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sucrase-isomaltase deficiency PMID:12624106|PMID:15944403|PMID:16199547|PMID:16329100|PMID:17576681|PMID:19121318|PMID:19680155|PMID:23103650|PMID:24033266|PMID:25452324|PMID:25741868|PMID:26812950|PMID:27579322|PMID:27749612|PMID:27872184|PMID:28062276|PMID:28492532|PMID:29408290|PMID:8609217|PMID:9092938|PMID:9536098 12366798 SI sucrase-isomaltase gene DOID:10283 prostate cancer ISO RGD:1352166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12366798 SI sucrase-isomaltase gene DOID:630 genetic disease ISO RGD:1352166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16329100|PMID:19121318|PMID:23103650|PMID:24033266|PMID:25452324|PMID:25741868|PMID:27579322|PMID:27872184|PMID:28062276|PMID:28492532|PMID:29408290 12366798 SI sucrase-isomaltase gene DOID:9004009 Reperfusion Injury ISO RGD:3675 D RGD:9068941 20200609 RGD PMID:9724271|REF_RGD_ID:1625550 12366798 SI sucrase-isomaltase gene DOID:9005587 Starvation ISO RGD:3675 D RGD:9068941 20200609 RGD PMID:10864000|REF_RGD_ID:1625548 12366798 SI sucrase-isomaltase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3675 D RGD:9068941 20200609 RGD protein:increased expression:small intestine mucosa PMID:12940455|REF_RGD_ID:1625543 12366798 SI sucrase-isomaltase gene DOID:9007692 Insulin Resistance ISO RGD:3675 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;mRNA:increased expression:small intestine PMID:9878708|REF_RGD_ID:1625544 12366853 C37H2orf69 chromosome 37 C2orf69 homolog gene DOID:630 genetic disease ISO RGD:1603539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366853 C37H2orf69 chromosome 37 C2orf69 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12366853 C37H2orf69 chromosome 37 C2orf69 homolog gene DOID:9005629 Combined Oxidative Phosphorylation Deficiency 53 ISO RGD:1603539 D RGD:7240710 20210721 OMIM 12366853 C37H2orf69 chromosome 37 C2orf69 homolog gene DOID:9005629 Combined Oxidative Phosphorylation Deficiency 53 ISO RGD:1603539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 53 PMID:25741868|PMID:33945503|PMID:34038740 12366859 EDC4 enhancer of mRNA decapping 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1606564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12366859 EDC4 enhancer of mRNA decapping 4 gene DOID:630 genetic disease ISO RGD:1606564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366895 LST1 leukocyte specific transcript 1 gene DOID:0050553 JMP syndrome ISO RGD:1350273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12366895 LST1 leukocyte specific transcript 1 gene DOID:0081267 graft-versus-host disease ISO RGD:1350273 D RGD:9068941 20200609 RGD DNA:repeat:intron:IVS3dupGA (human) PMID:9808588|REF_RGD_ID:2316565 12366895 LST1 leukocyte specific transcript 1 gene DOID:11372 megacolon ISO RGD:1350273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12366895 LST1 leukocyte specific transcript 1 gene DOID:630 genetic disease ISO RGD:1350273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366895 LST1 leukocyte specific transcript 1 gene DOID:9005372 Inflammation severity ISO RGD:1350273 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid; mRNA:increased expression:synovium (human) PMID:16362817|REF_RGD_ID:2316570 12366906 POLE2 DNA polymerase epsilon 2, accessory subunit gene DOID:0050144 Kartagener syndrome ISO RGD:1321142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:19052621|PMID:24498942 12366906 POLE2 DNA polymerase epsilon 2, accessory subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1321142 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12366906 POLE2 DNA polymerase epsilon 2, accessory subunit gene DOID:0070253 congenital disorder of glycosylation type IIa ISO RGD:1321142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkuraya syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa PMID:28492532 12366906 POLE2 DNA polymerase epsilon 2, accessory subunit gene DOID:0110612 primary ciliary dyskinesia 10 ISO RGD:1321142 D RGD:7240710 20190315 OMIM 12366906 POLE2 DNA polymerase epsilon 2, accessory subunit gene DOID:0110612 primary ciliary dyskinesia 10 ISO RGD:1321142 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 10 PMID:19052621|PMID:24033266|PMID:24498942|PMID:25741868|PMID:28492532|PMID:32638265 12366906 POLE2 DNA polymerase epsilon 2, accessory subunit gene DOID:5212 congenital disorder of glycosylation ISO RGD:1321142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:24033266|PMID:25741868|PMID:28492532 12366906 POLE2 DNA polymerase epsilon 2, accessory subunit gene DOID:630 genetic disease ISO RGD:1321142 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12366906 POLE2 DNA polymerase epsilon 2, accessory subunit gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321142 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12366906 POLE2 DNA polymerase epsilon 2, accessory subunit gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:17576681|PMID:19052621|PMID:24033266|PMID:24498942|PMID:25741868|PMID:28492532|PMID:32719396|PMID:9536098 12366930 TSPAN4 tetraspanin 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12366930 TSPAN4 tetraspanin 4 gene DOID:0080773 delta beta-thalassemia ISO RGD:1314069 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12366930 TSPAN4 tetraspanin 4 gene DOID:0111969 immunodeficiency 39 ISO RGD:1314069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12366930 TSPAN4 tetraspanin 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12366930 TSPAN4 tetraspanin 4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1314069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12366930 TSPAN4 tetraspanin 4 gene DOID:630 genetic disease ISO RGD:1314069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366930 TSPAN4 tetraspanin 4 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1314069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12366940 MOB2 MOB kinase activator 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12366940 MOB2 MOB kinase activator 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1602095 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12366940 MOB2 MOB kinase activator 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:1602095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12366940 MOB2 MOB kinase activator 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12366940 MOB2 MOB kinase activator 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12366940 MOB2 MOB kinase activator 2 gene DOID:630 genetic disease ISO RGD:1602095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366940 MOB2 MOB kinase activator 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1602095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12366940 MOB2 MOB kinase activator 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1602095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12366955 ANKUB1 ankyrin repeat and ubiquitin domain containing 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:1348688 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12366955 ANKUB1 ankyrin repeat and ubiquitin domain containing 1 gene DOID:630 genetic disease ISO RGD:1348688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366966 AMELX amelogenin X-linked gene DOID:0090109 autosomal dominant hypocalcemia ISO RGD:2107 D RGD:9068941 20200609 RGD PMID:15721149|REF_RGD_ID:1599092 12366966 AMELX amelogenin X-linked gene DOID:0110058 amelogenesis imperfecta type 1E ISO RGD:735379 D RGD:7240710 20180130 OMIM 12366966 AMELX amelogenin X-linked gene DOID:0110058 amelogenesis imperfecta type 1E ISO RGD:735379 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth PMID:10669095|PMID:11201048|PMID:11839357|PMID:11922868|PMID:1483698|PMID:15111628|PMID:1916828|PMID:1967204|PMID:23251683|PMID:25741868|PMID:3169793|PMID:4623931|PMID:5225441|PMID:7599636|PMID:8406474|PMID:9188994 12366966 AMELX amelogenin X-linked gene DOID:12849 autistic disorder ISO RGD:735379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12366966 AMELX amelogenin X-linked gene DOID:13938 amenorrhea ISO RGD:735379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12366966 AMELX amelogenin X-linked gene DOID:2187 amelogenesis imperfecta ISO RGD:735379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta 12366966 AMELX amelogenin X-linked gene DOID:630 genetic disease ISO RGD:735379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366966 AMELX amelogenin X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12366976 SSPN sarcospan gene DOID:0060224 atrial fibrillation ISO RGD:1347504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12366976 SSPN sarcospan gene DOID:630 genetic disease ISO RGD:1347504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366976 SSPN sarcospan gene DOID:9007173 Familial Natural Short Sleep 1 ISO RGD:1347504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short sleep, familial natural, 1 PMID:19679812|PMID:25083013 12366984 BCL2L12 BCL2 like 12 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1606211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12366984 BCL2L12 BCL2 like 12 gene DOID:1909 melanoma ISO RGD:1606211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:26619011 12366984 BCL2L12 BCL2 like 12 gene DOID:630 genetic disease ISO RGD:1606211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12366984 BCL2L12 BCL2 like 12 gene DOID:8923 skin melanoma ISO RGD:1606211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:26619011 12366997 ZNF157 zinc finger protein 157 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12366997 ZNF157 zinc finger protein 157 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1344228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 12366997 ZNF157 zinc finger protein 157 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1344228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12366997 ZNF157 zinc finger protein 157 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1344228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12366997 ZNF157 zinc finger protein 157 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1344228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 12366997 ZNF157 zinc finger protein 157 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1344228 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12366997 ZNF157 zinc finger protein 157 gene DOID:12849 autistic disorder ISO RGD:1344228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12366997 ZNF157 zinc finger protein 157 gene DOID:630 genetic disease ISO RGD:1344228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367012 ADGB androglobin gene DOID:14261 fragile X syndrome ISO RGD:1343309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fragile X syndrome 12367012 ADGB androglobin gene DOID:630 genetic disease ISO RGD:1343309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367154 VNN1 vanin 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:1320770 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17145956 12367154 VNN1 vanin 1 gene DOID:10608 celiac disease ISO RGD:1320770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 12367154 VNN1 vanin 1 gene DOID:3310 atopic dermatitis ISO RGD:1320770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19322213 12367154 VNN1 vanin 1 gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:1320770 D RGD:9068941 20220303 RGD protein:increased expression:blood (human) PMID:32663515|REF_RGD_ID:151660329 12367154 VNN1 vanin 1 gene DOID:630 genetic disease ISO RGD:1320770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367154 VNN1 vanin 1 gene DOID:8893 psoriasis ISO RGD:1320770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19322213 12367154 VNN1 vanin 1 gene DOID:9003370 Dyslipidemias ISO RGD:1320770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17873875 12367168 ITGA11 integrin subunit alpha 11 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1323311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12367168 ITGA11 integrin subunit alpha 11 gene DOID:1793 pancreatic cancer ISO RGD:1323311 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 12367168 ITGA11 integrin subunit alpha 11 gene DOID:2717 Bloom syndrome ISO RGD:1323311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12367168 ITGA11 integrin subunit alpha 11 gene DOID:630 genetic disease ISO RGD:1323311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367168 ITGA11 integrin subunit alpha 11 gene DOID:9256 colorectal cancer ISO RGD:1323311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12367201 PHYHIPL phytanoyl-CoA 2-hydroxylase interacting protein like gene DOID:630 genetic disease ISO RGD:1317467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367216 REXO5 RNA exonuclease 5 gene DOID:630 genetic disease ISO RGD:1601954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367246 RBBP7 RB binding protein 7, chromatin remodeling factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12367246 RBBP7 RB binding protein 7, chromatin remodeling factor gene DOID:12849 autistic disorder ISO RGD:732412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12367246 RBBP7 RB binding protein 7, chromatin remodeling factor gene DOID:630 genetic disease ISO RGD:732412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367246 RBBP7 RB binding protein 7, chromatin remodeling factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12367266 OGT O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12367266 OGT O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:0080240 non-syndromic X-linked intellectual disability 106 ISO RGD:736466 D RGD:7240710 20190315 OMIM 12367266 OGT O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:0080240 non-syndromic X-linked intellectual disability 106 ISO RGD:736466 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 106 | ClinVar Annotator: match by term: Mental retardation, X-linked 106 PMID:12724313|PMID:18818698|PMID:21240259|PMID:24033266|PMID:25679214|PMID:25741868|PMID:26273451|PMID:27056667|PMID:28302723|PMID:28492532|PMID:28584052|PMID:29769320|PMID:31627256|PMID:9083067 12367266 OGT O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:12849 autistic disorder ISO RGD:736466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12367266 OGT O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:1712 aortic valve stenosis ISO RGD:736466 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle (human) PMID:22128088|REF_RGD_ID:9590202 12367266 OGT O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:6000 congestive heart failure ISO RGD:62060 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle (rat) PMID:22128088|REF_RGD_ID:9590202 12367266 OGT O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:630 genetic disease ISO RGD:736466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12724313|PMID:21240259|PMID:25741868|PMID:28492532|PMID:29769320|PMID:9083067 12367266 OGT O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:9003936 Cardiomegaly ISO RGD:62060 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle (rat) PMID:22128088|REF_RGD_ID:9590202 12367266 OGT O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:62060 D RGD:9068941 20200609 RGD PMID:15561949|REF_RGD_ID:9590198 12367266 OGT O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:9008939 Breast Neoplasms severity ISO RGD:62352 D RGD:9068941 20200609 RGD PMID:24214978|REF_RGD_ID:9590192 12367294 RARS2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1313439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:17847012|PMID:20635367|PMID:20952379|PMID:22086604|PMID:22569581|PMID:24033266|PMID:25356970|PMID:25533962|PMID:25741868|PMID:26083569|PMID:26539891|PMID:26795593|PMID:26968897|PMID:26970947|PMID:2706168|PMID:27061686|PMID:27290639|PMID:28492532|PMID:29881806|PMID:31102535|PMID:31216405|PMID:31429931|PMID:31474318|PMID:31980526|PMID:32071833|PMID:32725632|PMID:32860008|PMID:33798445|PMID:33926074|PMID:33972171|PMID:34085948|PMID:34717047|PMID:34869784 12367294 RARS2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1313439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:17847012|PMID:20635367|PMID:20952379|PMID:22086604|PMID:22569581|PMID:24033266|PMID:25356970|PMID:25533962|PMID:25741868|PMID:26083569|PMID:26539891|PMID:26795593|PMID:26968897|PMID:26970947|PMID:2706168|PMID:27061686|PMID:27290639|PMID:28492532|PMID:29881806|PMID:31102535|PMID:31216405|PMID:31429931|PMID:31474318|PMID:31980526|PMID:32071833|PMID:32725632|PMID:32860008|PMID:33798445|PMID:33926074|PMID:33972171|PMID:34085948|PMID:34717047|PMID:34869784 12367294 RARS2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:0060275 pontocerebellar hypoplasia type 6 ISO RGD:1313439 D RGD:7240710 20180130 OMIM 12367294 RARS2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:0060275 pontocerebellar hypoplasia type 6 ISO RGD:1313439 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Encephalopathy fatal infantile with mitochondrial respiratory chain defects | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 6 PMID:10447505|PMID:16199547|PMID:17576681|PMID:17847012|PMID:18414213|PMID:20635367|PMID:20952379|PMID:22086604|PMID:22569581|PMID:24047924|PMID:24123792|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25533962|PMID:25741868|PMID:25809939|PMID:26083569|PMID:26467025|PMID:26795593|PMID:26970947|PMID:2706168|PMID:27061686|PMID:27290639|PMID:27683254|PMID:28492532|PMID:29881806|PMID:30634555|PMID:31102535|PMID:31216405|PMID:31429931|PMID:31474318|PMID:31536827|PMID:31618753|PMID:31665838|PMID:32313153|PMID:32725632|PMID:32860008|PMID:33209735|PMID:33798445|PMID:33926074|PMID:33972171|PMID:34247374|PMID:34445196|PMID:34717047|PMID:9536098 12367294 RARS2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:0070258 congenital disorder of glycosylation type IIf ISO RGD:1313439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SLC35A1-CDG PMID:24033266|PMID:28492532 12367294 RARS2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:0070338 cerebellar hypoplasia ISO RGD:1313439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25533962|PMID:25741868|PMID:2706168|PMID:27061686|PMID:28492532|PMID:29881806|PMID:31429931|PMID:31474318 12367294 RARS2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:1059 intellectual disability ISO RGD:1313439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe intellectual deficiency 12367294 RARS2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:1826 epilepsy ISO RGD:1313439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12367294 RARS2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:5212 congenital disorder of glycosylation ISO RGD:1313439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:24033266|PMID:25741868|PMID:28492532 12367294 RARS2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1313439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10447505|PMID:17576681|PMID:20635367|PMID:20952379|PMID:22569581|PMID:2259581|PMID:25326635|PMID:25356970|PMID:25741868|PMID:26083569|PMID:26539891|PMID:26795593|PMID:26968897|PMID:28492532|PMID:30006346|PMID:31102535|PMID:31216405|PMID:34085948|PMID:34717047|PMID:34869784|PMID:9536098 12367320 KCNQ4 potassium voltage-gated channel subfamily Q member 4 gene DOID:0050563 nonsyndromic deafness ISO RGD:736263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:10025409|PMID:10369879|PMID:18786918|PMID:20832469|PMID:20966080|PMID:23717403|PMID:23750663|PMID:24033266|PMID:25116015|PMID:25741868|PMID:28492532|PMID:30311386|PMID:8035838 12367320 KCNQ4 potassium voltage-gated channel subfamily Q member 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:736263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12367320 KCNQ4 potassium voltage-gated channel subfamily Q member 4 gene DOID:0110558 autosomal dominant nonsyndromic deafness 2A ISO RGD:736263 D RGD:7240710 20180130 OMIM 12367320 KCNQ4 potassium voltage-gated channel subfamily Q member 4 gene DOID:0110558 autosomal dominant nonsyndromic deafness 2A ISO RGD:736263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A | ClinVar Annotator: match by term: DFNA 2 Nonsyndromic Hearing Loss | ClinVar Annotator: match by term: Deafness, autosomal dominant 2A PMID:10025409|PMID:10369879|PMID:10571947|PMID:10925378|PMID:11450843|PMID:11915881|PMID:12112653|PMID:15699719|PMID:16596322|PMID:18030493|PMID:18786918|PMID:18797286|PMID:20301388|PMID:20832469|PMID:20966080|PMID:21242547|PMID:21951272|PMID:22384008|PMID:22420747|PMID:23451214|PMID:23717403|PMID:23750663|PMID:24033266|PMID:25116015|PMID:25741868|PMID:26036578|PMID:26467025|PMID:26515070|PMID:27068579|PMID:28492532|PMID:30311386|PMID:30413759|PMID:31028865|PMID:31995783|PMID:8035838|PMID:9126484 12367320 KCNQ4 potassium voltage-gated channel subfamily Q member 4 gene DOID:10003 sensorineural hearing loss ISO RGD:736263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:19461658|PMID:27081546|PMID:30311386|PMID:34652575 12367320 KCNQ4 potassium voltage-gated channel subfamily Q member 4 gene DOID:630 genetic disease ISO RGD:736263 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30311386 12367320 KCNQ4 potassium voltage-gated channel subfamily Q member 4 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:736263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823764 12367320 KCNQ4 potassium voltage-gated channel subfamily Q member 4 gene DOID:9004538 Hearing Loss ISO RGD:736263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386 12367339 REM1 RRAD and GEM like GTPase 1 gene DOID:2843 long QT syndrome ISO RGD:1315248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12367339 REM1 RRAD and GEM like GTPase 1 gene DOID:630 genetic disease ISO RGD:1315248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367351 HOXD12 homeobox D12 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1320327 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12367351 HOXD12 homeobox D12 gene DOID:11836 clubfoot ISO RGD:1320327 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:rs847154 (human) PMID:16331564|REF_RGD_ID:12743594 12367351 HOXD12 homeobox D12 gene DOID:1909 melanoma ISO RGD:1320327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 12367351 HOXD12 homeobox D12 gene DOID:630 genetic disease ISO RGD:1320327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367351 HOXD12 homeobox D12 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1320327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19108020|PMID:8620844 12367355 TNFRSF4 TNF receptor superfamily member 4 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:737374 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12367355 TNFRSF4 TNF receptor superfamily member 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:737374 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12367355 TNFRSF4 TNF receptor superfamily member 4 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:737374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12367355 TNFRSF4 TNF receptor superfamily member 4 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:737374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12367355 TNFRSF4 TNF receptor superfamily member 4 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:737374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12367355 TNFRSF4 TNF receptor superfamily member 4 gene DOID:0110994 Joubert syndrome 25 ISO RGD:737374 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12367355 TNFRSF4 TNF receptor superfamily member 4 gene DOID:0111934 immunodeficiency 38 ISO RGD:737374 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12367355 TNFRSF4 TNF receptor superfamily member 4 gene DOID:0111935 immunodeficiency 16 ISO RGD:737374 D RGD:7240710 20180130 OMIM 12367355 TNFRSF4 TNF receptor superfamily member 4 gene DOID:0111935 immunodeficiency 16 ISO RGD:737374 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:16199547|PMID:17576681|PMID:19492091|PMID:21031596|PMID:23897980|PMID:24033266|PMID:25741868|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9536098|PMID:9683594 12367355 TNFRSF4 TNF receptor superfamily member 4 gene DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 ISO RGD:737374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures PMID:28492532 12367355 TNFRSF4 TNF receptor superfamily member 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:737374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 12367355 TNFRSF4 TNF receptor superfamily member 4 gene DOID:3744 cervical squamous cell carcinoma severity ISO RGD:737374 D RGD:9068941 20200807 RGD PMID:28086903|REF_RGD_ID:38455996 12367355 TNFRSF4 TNF receptor superfamily member 4 gene DOID:417 autoimmune disease ISO RGD:737374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9766631 12367355 TNFRSF4 TNF receptor superfamily member 4 gene DOID:630 genetic disease ISO RGD:737374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12367355 TNFRSF4 TNF receptor superfamily member 4 gene DOID:820 myocarditis ISO RGD:737374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 12367355 TNFRSF4 TNF receptor superfamily member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12367355 TNFRSF4 TNF receptor superfamily member 4 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:737374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12367355 TNFRSF4 TNF receptor superfamily member 4 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:737374 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12367355 TNFRSF4 TNF receptor superfamily member 4 gene DOID:934 viral infectious disease ISO RGD:737374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 12367366 CSRP1 cysteine and glycine rich protein 1 gene DOID:0080365 endometrial hyperplasia ISO RGD:737489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22248470 12367366 CSRP1 cysteine and glycine rich protein 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:737489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12367366 CSRP1 cysteine and glycine rich protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:737489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12367366 CSRP1 cysteine and glycine rich protein 1 gene DOID:630 genetic disease ISO RGD:737489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367366 CSRP1 cysteine and glycine rich protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12367366 CSRP1 cysteine and glycine rich protein 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:737489 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12367366 CSRP1 cysteine and glycine rich protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12367381 CDRT4 CMT1A duplicated region transcript 4 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1351857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:1303230|PMID:1677316|PMID:1822787|PMID:28492532 12367381 CDRT4 CMT1A duplicated region transcript 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1351857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23044707|PMID:25741868|PMID:27569545 12367381 CDRT4 CMT1A duplicated region transcript 4 gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:1351857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA PMID:25741868 12367381 CDRT4 CMT1A duplicated region transcript 4 gene DOID:12849 autistic disorder ISO RGD:1351857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12367381 CDRT4 CMT1A duplicated region transcript 4 gene DOID:5419 schizophrenia ISO RGD:1351857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12367381 CDRT4 CMT1A duplicated region transcript 4 gene DOID:630 genetic disease ISO RGD:1351857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367391 C21H11orf16 chromosome 21 C11orf16 homolog gene DOID:630 genetic disease ISO RGD:1347638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367410 BTBD8 BTB domain containing 8 gene DOID:630 genetic disease ISO RGD:1347221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367467 MPLKIP M-phase specific PLK1 interacting protein gene DOID:0050528 nonphotosensitive trichothiodystrophy 4 ISO RGD:1344320 D RGD:7240710 20190904 OMIM 12367467 MPLKIP M-phase specific PLK1 interacting protein gene DOID:0050528 nonphotosensitive trichothiodystrophy 4 ISO RGD:1344320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 4, nonphotosensitive PMID:15645389|PMID:1634754|PMID:16977596|PMID:2333887|PMID:24824130|PMID:25290684|PMID:25606444|PMID:25741868|PMID:26880286|PMID:28492532|PMID:4847854|PMID:5645693 12367467 MPLKIP M-phase specific PLK1 interacting protein gene DOID:0111866 trichothiodystrophy ISO RGD:1344320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12367467 MPLKIP M-phase specific PLK1 interacting protein gene DOID:0111873 photosensitive trichothiodystrophy 1 ISO RGD:1344320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive 12367467 MPLKIP M-phase specific PLK1 interacting protein gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1344320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:10441570|PMID:15739154|PMID:18000979|PMID:20672375|PMID:24736735|PMID:28492532|PMID:29236091 12367467 MPLKIP M-phase specific PLK1 interacting protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12367467 MPLKIP M-phase specific PLK1 interacting protein gene DOID:630 genetic disease ISO RGD:1344320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12367473 WIPF3 WAS/WASL interacting protein family member 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12367473 WIPF3 WAS/WASL interacting protein family member 3 gene DOID:630 genetic disease ISO RGD:1605143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367488 LOC100685630 zinc finger protein 547 gene DOID:630 genetic disease ISO RGD:1347267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367503 OR5T8 olfactory receptor family 5 subfamily T member 8 gene DOID:1059 intellectual disability ISO RGD:1351333 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Intellectual disability 12367503 OR5T8 olfactory receptor family 5 subfamily T member 8 gene DOID:630 genetic disease ISO RGD:1351333 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367507 YRDC yrdC N6-threonylcarbamoyltransferase domain containing gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12367507 YRDC yrdC N6-threonylcarbamoyltransferase domain containing gene DOID:630 genetic disease ISO RGD:1606217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367507 YRDC yrdC N6-threonylcarbamoyltransferase domain containing gene DOID:9002926 Galloway-Mowat Syndrome 10 ISO RGD:1606217 D RGD:7240710 20211201 OMIM 12367507 YRDC yrdC N6-threonylcarbamoyltransferase domain containing gene DOID:9002926 Galloway-Mowat Syndrome 10 ISO RGD:1606217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 PMID:31481669|PMID:34545459 12367567 OS9 OS9 endoplasmic reticulum lectin gene DOID:630 genetic disease ISO RGD:1605693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367567 OS9 OS9 endoplasmic reticulum lectin gene DOID:6846 familial melanoma ISO RGD:1605693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 12367594 DGUOK deoxyguanosine kinase gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1312453 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12367594 DGUOK deoxyguanosine kinase gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1312453 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:28492532 12367594 DGUOK deoxyguanosine kinase gene DOID:0080121 mitochondrial DNA depletion syndrome 3 ISO RGD:1312453 D RGD:7240710 20180130 OMIM 12367594 DGUOK deoxyguanosine kinase gene DOID:0080121 mitochondrial DNA depletion syndrome 3 ISO RGD:1312453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 3 | ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral PMID:11687800|PMID:11983456|PMID:12205643|PMID:12210798|PMID:14568816|PMID:14623087|PMID:15639197|PMID:15887277|PMID:16263314|PMID:16908739|PMID:17073823|PMID:17452231|PMID:17576681|PMID:18205204|PMID:19103789|PMID:19265691|PMID:22622127|PMID:23043144|PMID:24321534|PMID:25131622|PMID:25741868|PMID:26874653|PMID:27324545|PMID:28492532|PMID:29137425|PMID:30366773|PMID:30589726|PMID:32482602|PMID:9175742|PMID:9536098 12367594 DGUOK deoxyguanosine kinase gene DOID:0111478 combined oxidative phosphorylation deficiency 20 ISO RGD:1312453 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20 PMID:12205643|PMID:14568816|PMID:16263314|PMID:17073823|PMID:18205204|PMID:19265691|PMID:24321534|PMID:25741868|PMID:28492532 12367594 DGUOK deoxyguanosine kinase gene DOID:0111516 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ISO RGD:1312453 D RGD:7240710 20190315 OMIM 12367594 DGUOK deoxyguanosine kinase gene DOID:0111516 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ISO RGD:1312453 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 PMID:11983456|PMID:16908739|PMID:17073823|PMID:17452231|PMID:18205204|PMID:19125351|PMID:23043144|PMID:24423689|PMID:25326637|PMID:25741868|PMID:26874653|PMID:28492532|PMID:28493820|PMID:29137425|PMID:29228108|PMID:30283818|PMID:30589726|PMID:30956829|PMID:31664448 12367594 DGUOK deoxyguanosine kinase gene DOID:10762 portal hypertension ISO RGD:1312453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12367594 DGUOK deoxyguanosine kinase gene DOID:543 dystonia ISO RGD:1312453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12367594 DGUOK deoxyguanosine kinase gene DOID:630 genetic disease ISO RGD:1312453 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12205643|PMID:14623087|PMID:19103789|PMID:23043144|PMID:25131622|PMID:25326637|PMID:25741868|PMID:27324545|PMID:28492532|PMID:29137425|PMID:29228108|PMID:30283818|PMID:30366773|PMID:30956829|PMID:31664448|PMID:32482602 12367594 DGUOK deoxyguanosine kinase gene DOID:700 mitochondrial metabolism disease susceptibility ISO RGD:1312453 D RGD:9068941 20200609 RGD mitochondrial DNA depletion syndrome, hepatocerebral form, OMIM:251880;DNA:deletion: :204delA PMID:11687800|REF_RGD_ID:1601052 12367594 DGUOK deoxyguanosine kinase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1312453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12367594 DGUOK deoxyguanosine kinase gene DOID:9000761 Deoxyguanosine Kinase Deficiency ISO RGD:1312453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26342080 12367594 DGUOK deoxyguanosine kinase gene DOID:9001065 Noncirrhotic Portal Hypertension 1 ISO RGD:1312453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Portal hypertension, noncirrhotic, 1 PMID:11983456|PMID:17073823|PMID:17452231|PMID:18205204|PMID:23043144|PMID:26874653|PMID:28492532 12367594 DGUOK deoxyguanosine kinase gene DOID:9002775 Cognitive Dysfunction ISO RGD:1312453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:25741868|PMID:28492532 12367605 DOCK3 dedicator of cytokinesis 3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1315429 D RGD:9068941 20200609 RGD PMID:14569117|REF_RGD_ID:1358592 12367605 DOCK3 dedicator of cytokinesis 3 gene DOID:630 genetic disease ISO RGD:1315429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28195318|PMID:30976111 12367605 DOCK3 dedicator of cytokinesis 3 gene DOID:9002933 Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia ISO RGD:1315429 D RGD:7240710 20190315 OMIM 12367605 DOCK3 dedicator of cytokinesis 3 gene DOID:9002933 Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia ISO RGD:1315429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia PMID:25741868|PMID:28195318|PMID:28492532|PMID:29130632|PMID:30976111 12367605 DOCK3 dedicator of cytokinesis 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1315429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:30976111 12367673 HNRNPM heterogeneous nuclear ribonucleoprotein M gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:731710 D RGD:9068941 20200609 RGD protein:increased expression:colonic epithelium (human) PMID:24381081|REF_RGD_ID:10054273 12367673 HNRNPM heterogeneous nuclear ribonucleoprotein M gene DOID:0080490 mucolipidosis type IV ISO RGD:731710 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 12367673 HNRNPM heterogeneous nuclear ribonucleoprotein M gene DOID:127 leiomyoma ISO RGD:731710 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine myometrium (human) PMID:18566572|REF_RGD_ID:2301090 12367673 HNRNPM heterogeneous nuclear ribonucleoprotein M gene DOID:12849 autistic disorder ISO RGD:731710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12367673 HNRNPM heterogeneous nuclear ribonucleoprotein M gene DOID:2843 long QT syndrome ISO RGD:731710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12367673 HNRNPM heterogeneous nuclear ribonucleoprotein M gene DOID:630 genetic disease ISO RGD:731710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367706 RNF121 ring finger protein 121 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1317294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 12367706 RNF121 ring finger protein 121 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1317294 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12367706 RNF121 ring finger protein 121 gene DOID:1059 intellectual disability ISO RGD:1317294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12367706 RNF121 ring finger protein 121 gene DOID:630 genetic disease ISO RGD:1317294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367719 TASOR2 transcription activation suppressor family member 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1343867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12367719 TASOR2 transcription activation suppressor family member 2 gene DOID:5419 schizophrenia ISO RGD:1343867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12367719 TASOR2 transcription activation suppressor family member 2 gene DOID:630 genetic disease ISO RGD:1343867 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:0050746 mantle cell lymphoma ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18787224 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:0050850 diabetic encephalopathy treatment ISO RGD:70982 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:26970304|REF_RGD_ID:13792771 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:0050861 colorectal adenocarcinoma ISO RGD:733891 D RGD:9068941 20200609 RGD PMID:21609933|REF_RGD_ID:13210767 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:733891 D RGD:9068941 20211217 RGD DNA:SNP:intron: (rs9879992) (human) PMID:21393552|REF_RGD_ID:150530486 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23516525 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:22982863|REF_RGD_ID:10045670 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17409235|PMID:22944069 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease ISO RGD:733891 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs334558 (human) PMID:19154537|REF_RGD_ID:13782364 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease ISO RGD:733891 D RGD:9068941 20200609 RGD DNA:altered methylation:CpG island: PMID:24101602|REF_RGD_ID:10045668 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease ISO RGD:733892 D RGD:9068941 20200609 RGD PMID:11226152|REF_RGD_ID:1302533 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:27893738|PMID:29257340|REF_RGD_ID:13792736|REF_RGD_ID:13792777 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:733892 D RGD:9068941 20200609 RGD PMID:22623685|REF_RGD_ID:10401801 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:733892 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:hippocampus: PMID:22048123|REF_RGD_ID:10045669 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:10763 hypertension ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22982863 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:10763 hypertension treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:22982863|REF_RGD_ID:10045670 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:11054 urinary bladder cancer ISO RGD:733891 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:114 heart disease treatment ISO RGD:70982 D RGD:9068941 20200609 RGD associated with hypertension PMID:28440874|REF_RGD_ID:13792734 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:11446 sciatic neuropathy ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:27125978|REF_RGD_ID:13792740 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:14330 Parkinson's disease treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:23094836|REF_RGD_ID:10045553 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:1561 cognitive disorder ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24634145 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:1596 depressive disorder ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20357757|PMID:20534517 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:1596 depressive disorder treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:19815943|REF_RGD_ID:10045564 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:1824 status epilepticus treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:22761705|REF_RGD_ID:10045560 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:219 colon cancer treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:22561258|REF_RGD_ID:10045586 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:2871 endometrial carcinoma severity ISO RGD:733891 D RGD:9068941 20200609 RGD protein:increased expression:endometrium (human) PMID:27050373|REF_RGD_ID:13524565 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:3021 acute kidney failure ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22785175 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:303 substance-related disorder treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:30188517|REF_RGD_ID:13792724 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:3312 bipolar disorder ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20357757 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:3312 bipolar disorder ISO RGD:733891 D RGD:9068941 20200609 RGD PMID:16397405|PMID:17357145|REF_RGD_ID:1641929|REF_RGD_ID:1641931 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:332 amyotrophic lateral sclerosis ISO RGD:733891 D RGD:9068941 20200609 RGD PMID:12675919|REF_RGD_ID:2301741 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:28440874|REF_RGD_ID:13792734 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:5419 schizophrenia ISO RGD:70982 D RGD:9068941 20200609 RGD protein:decreased expression,decreased activity:brain: PMID:12644246|REF_RGD_ID:10045563 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:5419 schizophrenia ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14745448|PMID:31563592 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:5419 schizophrenia ISO RGD:733891 D RGD:9068941 20200609 RGD PMID:16397405|REF_RGD_ID:1641931 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:5419 schizophrenia ISO RGD:733891 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid (human) PMID:15254796|REF_RGD_ID:1358650 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:5419 schizophrenia ISO RGD:733891 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:frontal cortex PMID:14745448|REF_RGD_ID:1358369 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:5844 myocardial infarction ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16716347 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:5844 myocardial infarction treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:16565311|REF_RGD_ID:10045368 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:6000 congestive heart failure ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17901358 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:630 genetic disease ISO RGD:733891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:680 tauopathy ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26945731 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:767 muscular atrophy ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18467435 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:8283 peritonitis ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16713974 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:8725 vascular dementia treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:27118553|REF_RGD_ID:13792766 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:90 degenerative disc disease ISO RGD:733891 D RGD:9068941 20200609 RGD PMID:29393545|REF_RGD_ID:13792726 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9000046 Poisoning ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22975441 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:27026509|REF_RGD_ID:13792767 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9000998 Brain Injuries ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:22643085|REF_RGD_ID:10045646 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9000998 Brain Injuries ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24675465 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:70982 D RGD:9068941 20200609 RGD associated with nonalcoholic fatty liver disease PMID:28807209|REF_RGD_ID:13792730 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:26888388|REF_RGD_ID:13792773 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9002245 Intestinal Neoplasms treatment ISO RGD:733892 D RGD:9068941 20200609 RGD PMID:24670930|REF_RGD_ID:13210772 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9002304 Prostatic Neoplasms ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16421604|PMID:25246272 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9002457 Experimental Arthritis ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16713974 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9002554 Tachycardia treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:28446231|REF_RGD_ID:13792733 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:733891 D RGD:9068941 20200609 RGD protein:increased expression:ovary (human) PMID:22455883|REF_RGD_ID:13441553 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9002928 Colonic Neoplasms disease_progression ISO RGD:733891 D RGD:9068941 20200609 RGD protein:increased expression:nucleus PMID:23389968|REF_RGD_ID:13210769 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:733891 D RGD:9068941 20200609 RGD PMID:23729362|REF_RGD_ID:13210765 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9003936 Cardiomegaly ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:19318234|REF_RGD_ID:10045585 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9003936 Cardiomegaly ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17901358 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9004484 Sepsis ISO RGD:70982 D RGD:9068941 20200609 RGD protein:decreased phosphorylation,increased activity: : PMID:20926980|REF_RGD_ID:10045370 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9004673 Hearing Loss, Cisplatin-Induced treatment ISO RGD:733892 D RGD:9068941 20200609 RGD PMID:19666099|REF_RGD_ID:10045579 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9005100 Aberrant Crypt Foci treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:23554136|REF_RGD_ID:13210771 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:28810530|REF_RGD_ID:13792729 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29626521 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9007653 Multiple Abnormalities ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22975441 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9007715 Endometrial Neoplasms treatment ISO RGD:733891 D RGD:9068941 20200609 RGD human cells in a mouse xenograft model PMID:23941783|REF_RGD_ID:13441554 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9007730 Burns ISO RGD:70982 D RGD:9068941 20200609 RGD protein:increased activity,altered phosphorylation:skeletal muscle: PMID:17686886|REF_RGD_ID:10045647 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:20217242|PMID:26918336|PMID:29978610|REF_RGD_ID:13792725|REF_RGD_ID:13792772|REF_RGD_ID:5509104 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9008394 Drug-Induced Dyskinesia treatment ISO RGD:70982 D RGD:9068941 20200609 RGD associated with Parkinsonian Disorders PMID:26997328|REF_RGD_ID:13792768 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9008939 Breast Neoplasms ISO RGD:733891 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35639300 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9352 type 2 diabetes mellitus ISO RGD:733892 D RGD:9068941 20200609 RGD PMID:20821187|REF_RGD_ID:10045562 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:27164497|REF_RGD_ID:13792739 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:70982 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 12367756 GSK3B glycogen synthase kinase 3 beta gene DOID:9408 acute myocardial infarction treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:26591365|REF_RGD_ID:13792778 12367778 IGF2BP2 insulin like growth factor 2 mRNA binding protein 2 gene DOID:0111546 Currarino syndrome ISO RGD:1606569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12367778 IGF2BP2 insulin like growth factor 2 mRNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1606569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367778 IGF2BP2 insulin like growth factor 2 mRNA binding protein 2 gene DOID:9007692 Insulin Resistance ISO RGD:1606569 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 12367778 IGF2BP2 insulin like growth factor 2 mRNA binding protein 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:1606569 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 12367778 IGF2BP2 insulin like growth factor 2 mRNA binding protein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1606569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to PMID:17463246|PMID:17463248|PMID:17463249 12367778 IGF2BP2 insulin like growth factor 2 mRNA binding protein 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1606569 D RGD:7240710 20230505 OMIM 12367805 KLHL41 kelch like family member 41 gene DOID:0110929 nemaline myopathy 9 ISO RGD:1351992 D RGD:7240710 20180130 OMIM 12367805 KLHL41 kelch like family member 41 gene DOID:0110929 nemaline myopathy 9 ISO RGD:1351992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 9 PMID:24268659|PMID:25558065|PMID:25741868|PMID:28492532 12367805 KLHL41 kelch like family member 41 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1351992 D RGD:9068941 20200609 RGD PMID:11583900|REF_RGD_ID:1580798 12367805 KLHL41 kelch like family member 41 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1351992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12367805 KLHL41 kelch like family member 41 gene DOID:3191 nemaline myopathy ISO RGD:1351992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy PMID:24268659|PMID:25558065 12367805 KLHL41 kelch like family member 41 gene DOID:630 genetic disease ISO RGD:1351992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12367815 VCL vinculin gene DOID:0050700 cardiomyopathy ISO RGD:1322560 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:15331426|PMID:15769782|PMID:16236538|PMID:16712796|PMID:16783378|PMID:17785437|PMID:20301718|PMID:22421524|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25332820|PMID:25351510|PMID:25741868|PMID:26191084|PMID:26458567|PMID:26656175|PMID:27532257|PMID:27930701|PMID:28087426|PMID:28492532|PMID:28771489|PMID:29247119|PMID:29255176|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31737537|PMID:31983221|PMID:32516855|PMID:33012304|PMID:33302605 12367815 VCL vinculin gene DOID:0060041 autism spectrum disorder ISO RGD:1322560 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12367815 VCL vinculin gene DOID:0060319 cardiac arrest ISO RGD:1322560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:25741868|PMID:28492532 12367815 VCL vinculin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1322560 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26656175|PMID:28492532|PMID:30847666|PMID:31983221|PMID:32880476 12367815 VCL vinculin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1322560 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26656175|PMID:28492532|PMID:30847666|PMID:31983221|PMID:32880476 12367815 VCL vinculin gene DOID:0110321 hypertrophic cardiomyopathy 15 ISO RGD:1322560 D RGD:7240710 20180130 OMIM 12367815 VCL vinculin gene DOID:0110321 hypertrophic cardiomyopathy 15 ISO RGD:1322560 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 15 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 15 PMID:11815424|PMID:16236538|PMID:16712796|PMID:16949038|PMID:17097056|PMID:22421524|PMID:23159629|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24062880|PMID:24227891|PMID:24503780|PMID:25299611|PMID:25332820|PMID:25351510|PMID:25741868|PMID:26458567|PMID:26735901|PMID:27503891|PMID:27532257|PMID:27930701|PMID:28087426|PMID:28492532|PMID:28771489|PMID:29255176|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31737537|PMID:31983221|PMID:32516855|PMID:32880476|PMID:33012304|PMID:33302605|PMID:33500567 12367815 VCL vinculin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1322560 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:15769782|PMID:16236538|PMID:16712796|PMID:17785437|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26191084|PMID:27930701|PMID:28492532|PMID:28771489|PMID:29875424|PMID:31513939 12367815 VCL vinculin gene DOID:0110446 dilated cardiomyopathy 1W ISO RGD:1322560 D RGD:7240710 20180130 OMIM 12367815 VCL vinculin gene DOID:0110446 dilated cardiomyopathy 1W ISO RGD:1322560 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:11815424|PMID:15331426|PMID:15769782|PMID:16199547|PMID:16236538|PMID:16712796|PMID:16783378|PMID:16949038|PMID:17097056|PMID:17576681|PMID:17785437|PMID:20301718|PMID:20474083|PMID:21681106|PMID:22421524|PMID:23159629|PMID:23299917|PMID:23396983|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24062880|PMID:24227891|PMID:24503780|PMID:25163546|PMID:25299611|PMID:25332820|PMID:25351510|PMID:25500949|PMID:25741868|PMID:26191084|PMID:26458567|PMID:26656175|PMID:26735901|PMID:26776555|PMID:27503891|PMID:27532257|PMID:27930701|PMID:27957775|PMID:28087426|PMID:28087566|PMID:28218286|PMID:28492532|PMID:28611029|PMID:28771489|PMID:29247119|PMID:29255176|PMID:29875424|PMID:30847666|PMID:30923642|PMID:31513939|PMID:31737537|PMID:31983221|PMID:32516855|PMID:32880476|PMID:33012304|PMID:33302605|PMID:33500567|PMID:9536098 12367815 VCL vinculin gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1322560 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:24033266|PMID:24062880|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666|PMID:32880476 12367815 VCL vinculin gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1322560 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy 1 PMID:16783378|PMID:20301718|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12367815 VCL vinculin gene DOID:10487 Hirschsprung's disease ISO RGD:1322560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung disease PMID:24033266|PMID:25741868|PMID:28492532 12367815 VCL vinculin gene DOID:11476 osteoporosis ISO RGD:1322560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12367815 VCL vinculin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1322560 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16712796|PMID:23299917|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27930701|PMID:28492532|PMID:28771489|PMID:29255176|PMID:29875424|PMID:30847666|PMID:31513939|PMID:33012304 12367815 VCL vinculin gene DOID:12930 dilated cardiomyopathy ISO RGD:1322560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11815424|PMID:16949038|PMID:17785437|PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26656175|PMID:26735901|PMID:27532257|PMID:28492532|PMID:30923642 12367815 VCL vinculin gene DOID:12930 dilated cardiomyopathy ISO RGD:1322560 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11815424|PMID:16949038|PMID:17785437|PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26656175|PMID:26735901|PMID:27532257|PMID:28492532|PMID:30923642|PMID:32516855 12367815 VCL vinculin gene DOID:12930 dilated cardiomyopathy ISO RGD:1322560 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11815424|PMID:16783378|PMID:16949038|PMID:17785437|PMID:20301718|PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25741868|PMID:26191084|PMID:26656175|PMID:26735901|PMID:27532257|PMID:28492532|PMID:30923642|PMID:32516855 12367815 VCL vinculin gene DOID:2843 long QT syndrome ISO RGD:1322560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12367815 VCL vinculin gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1322560 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532 12367815 VCL vinculin gene DOID:6000 congestive heart failure ISO RGD:1322560 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:24033266|PMID:25741868|PMID:28492532|PMID:33500567 12367815 VCL vinculin gene DOID:630 genetic disease ISO RGD:1322560 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12367815 VCL vinculin gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1322560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction PMID:11815424|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532 12367815 VCL vinculin gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1322560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 12367815 VCL vinculin gene DOID:9005141 Ventricular Tachycardia ISO RGD:1322560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:17785437|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26191084|PMID:28492532 12367815 VCL vinculin gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1322560 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 12367815 VCL vinculin gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:1322560 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 12367841 TAT tyrosine aminotransferase gene DOID:0050725 tyrosinemia type II ISO RGD:736963 D RGD:7240710 20180214 OMIM 12367841 TAT tyrosine aminotransferase gene DOID:0050725 tyrosinemia type II ISO RGD:736963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tyrosinemia type II PMID:1357662|PMID:16199547|PMID:16917729|PMID:17576681|PMID:18577048|PMID:21145993|PMID:25741868|PMID:25784227|PMID:27285949|PMID:27832414|PMID:28255985|PMID:28492532|PMID:31737040|PMID:9536098|PMID:9544843 12367841 TAT tyrosine aminotransferase gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:736963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12367841 TAT tyrosine aminotransferase gene DOID:10907 microcephaly ISO RGD:736963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12367841 TAT tyrosine aminotransferase gene DOID:630 genetic disease ISO RGD:736963 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12367841 TAT tyrosine aminotransferase gene DOID:9275 tyrosinemia ISO RGD:736963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertyrosinemia 12367841 TAT tyrosine aminotransferase gene DOID:9275 tyrosinemia susceptibility ISO RGD:736963 D RGD:9068941 20200609 RGD DNA:point mutations PMID:1357662|REF_RGD_ID:1600125 12367857 COX6A2 cytochrome c oxidase subunit 6A2 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:736247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12367857 COX6A2 cytochrome c oxidase subunit 6A2 gene DOID:630 genetic disease ISO RGD:736247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367857 COX6A2 cytochrome c oxidase subunit 6A2 gene DOID:9005386 Mitochondrial Complex IV Deficiency, Nuclear Type 18 ISO RGD:736247 D RGD:7240710 20201111 OMIM 12367857 COX6A2 cytochrome c oxidase subunit 6A2 gene DOID:9005386 Mitochondrial Complex IV Deficiency, Nuclear Type 18 ISO RGD:736247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 PMID:25741868|PMID:31155743 12367864 AVPR1A arginine vasopressin receptor 1A gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:68986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17218722 12367864 AVPR1A arginine vasopressin receptor 1A gene DOID:0060041 autism spectrum disorder ISO RGD:68986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20546835 12367864 AVPR1A arginine vasopressin receptor 1A gene DOID:10762 portal hypertension ISO RGD:68986 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis;mRNA:increased expression:liver, artery PMID:12641544|REF_RGD_ID:2300334 12367864 AVPR1A arginine vasopressin receptor 1A gene DOID:10763 hypertension ISO RGD:2185 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, arteriole PMID:15657301|REF_RGD_ID:2300322 12367864 AVPR1A arginine vasopressin receptor 1A gene DOID:10763 hypertension ISO RGD:2185 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:paraventricular hypothalamic nucleus PMID:15475662|REF_RGD_ID:2300330 12367864 AVPR1A arginine vasopressin receptor 1A gene DOID:10763 hypertension ISO RGD:68986 D RGD:9068941 20200609 RGD DNA:SNP PMID:17653244|REF_RGD_ID:2300319 12367864 AVPR1A arginine vasopressin receptor 1A gene DOID:12849 autistic disorder ISO RGD:68986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16520824 12367864 AVPR1A arginine vasopressin receptor 1A gene DOID:1591 renovascular hypertension ISO RGD:2185 D RGD:9068941 20200609 RGD mRNA:altered expression:brain PMID:15613739|REF_RGD_ID:2300323 12367864 AVPR1A arginine vasopressin receptor 1A gene DOID:3021 acute kidney failure ISO RGD:2185 D RGD:9068941 20200609 RGD PMID:17347933|REF_RGD_ID:2300348 12367864 AVPR1A arginine vasopressin receptor 1A gene DOID:4724 brain edema ISO RGD:2185 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:16671476|REF_RGD_ID:2300375 12367864 AVPR1A arginine vasopressin receptor 1A gene DOID:5419 schizophrenia ISO RGD:68987 D RGD:9068941 20220825 MouseDO OMIM:181500 12367864 AVPR1A arginine vasopressin receptor 1A gene DOID:5844 myocardial infarction ISO RGD:2185 D RGD:9068941 20200609 RGD PMID:16423716|REF_RGD_ID:2300376 12367864 AVPR1A arginine vasopressin receptor 1A gene DOID:630 genetic disease ISO RGD:68986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367864 AVPR1A arginine vasopressin receptor 1A gene DOID:9000998 Brain Injuries ISO RGD:2185 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:17244947|REF_RGD_ID:2300372 12367864 AVPR1A arginine vasopressin receptor 1A gene DOID:9003936 Cardiomegaly ISO RGD:2185 D RGD:9068941 20200609 RGD associated with Heart Failure, Congestive PMID:18467593|REF_RGD_ID:2300338 12367864 AVPR1A arginine vasopressin receptor 1A gene DOID:9008217 Hemorrhage ISO RGD:2185 D RGD:9068941 20200609 RGD associated with Hypertension, Portal PMID:14647048|REF_RGD_ID:2300333 12367868 BTBD9 BTB domain containing 9 gene DOID:0050425 restless legs syndrome ISO RGD:1315893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17637780 12367868 BTBD9 BTB domain containing 9 gene DOID:0050425 restless legs syndrome ISO RGD:1315894 D RGD:9068941 20220825 MouseDO OMIM:102300 | OMIM:610438 | OMIM:610439 | OMIM:611185 | OMIM:611242 | OMIM:612853 | OMIM:615197 12367868 BTBD9 BTB domain containing 9 gene DOID:1059 intellectual disability ISO RGD:1315893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12367868 BTBD9 BTB domain containing 9 gene DOID:630 genetic disease ISO RGD:1315893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367889 PHF2 PHD finger protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1313130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12367889 PHF2 PHD finger protein 2 gene DOID:10283 prostate cancer ISO RGD:1313130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12367889 PHF2 PHD finger protein 2 gene DOID:12642 hiatus hernia ISO RGD:1313130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hiatus hernia 12367889 PHF2 PHD finger protein 2 gene DOID:630 genetic disease ISO RGD:1313130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23265383 12367889 PHF2 PHD finger protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12367918 LOC485282 olfactory receptor 52B6 gene DOID:630 genetic disease ISO RGD:1351225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367920 ENTPD3 ectonucleoside triphosphate diphosphohydrolase 3 gene DOID:10283 prostate cancer ISO RGD:1346927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12367920 ENTPD3 ectonucleoside triphosphate diphosphohydrolase 3 gene DOID:630 genetic disease ISO RGD:1346927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367938 BAMBI BMP and activin membrane bound inhibitor gene DOID:10534 stomach cancer disease_progression ISO RGD:1346993 D RGD:9068941 20200609 RGD PMID:24752577|REF_RGD_ID:14390158 12367938 BAMBI BMP and activin membrane bound inhibitor gene DOID:14654 prostatitis ISO RGD:1346993 D RGD:9068941 20200609 RGD associated with prostatic hypertrophy;mRNA,protein:decreased expression:prostate: PMID:27243216|REF_RGD_ID:14390161 12367938 BAMBI BMP and activin membrane bound inhibitor gene DOID:1712 aortic valve stenosis ISO RGD:1346993 D RGD:9068941 20200609 RGD protein:increased expression:myocardium: PMID:23168040|REF_RGD_ID:14390160 12367938 BAMBI BMP and activin membrane bound inhibitor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1346993 D RGD:9068941 20200609 RGD mRNA:increased expression:CD4+ T : PMID:27549738|REF_RGD_ID:14390164 12367938 BAMBI BMP and activin membrane bound inhibitor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1346993 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung: PMID:20716422|REF_RGD_ID:14390157 12367938 BAMBI BMP and activin membrane bound inhibitor gene DOID:5082 liver cirrhosis ISO RGD:1346993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097701 12367938 BAMBI BMP and activin membrane bound inhibitor gene DOID:6000 congestive heart failure ISO RGD:1346993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12367938 BAMBI BMP and activin membrane bound inhibitor gene DOID:630 genetic disease ISO RGD:1346993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367938 BAMBI BMP and activin membrane bound inhibitor gene DOID:9000039 Spinal Cord Injuries ISO RGD:621831 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:spinal cord: PMID:28035406|REF_RGD_ID:14390163 12367938 BAMBI BMP and activin membrane bound inhibitor gene DOID:9000081 Lymphatic Metastasis ISO RGD:1346993 D RGD:9068941 20200609 RGD associated with stomach cancer; protein:increased expression: : PMID:24752577|REF_RGD_ID:14390158 12367938 BAMBI BMP and activin membrane bound inhibitor gene DOID:9003936 Cardiomegaly ISO RGD:1346993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12367938 BAMBI BMP and activin membrane bound inhibitor gene DOID:9256 colorectal cancer ISO RGD:1346993 D RGD:9068941 20200609 RGD PMID:29085481|REF_RGD_ID:14390156 12367938 BAMBI BMP and activin membrane bound inhibitor gene DOID:9256 colorectal cancer disease_progression ISO RGD:1346993 D RGD:9068941 20200609 RGD PMID:18756595|REF_RGD_ID:14390154 12367938 BAMBI BMP and activin membrane bound inhibitor gene DOID:9970 obesity ISO RGD:736709 D RGD:9068941 20200609 RGD mRNA:decreased expression:adipose tissue PMID:22187378|REF_RGD_ID:14390162 12367938 Bambi BMP and activin membrane-bound inhibitor gene DOID:9004319 Ventricular Outflow Obstruction ISO RGD:736709 D RGD:9068941 20200609 RGD protein:increased expression:myocardium: PMID:23168040|REF_RGD_ID:14390160 12367945 MRPL36 mitochondrial ribosomal protein L36 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1314956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:28492532 12367945 MRPL36 mitochondrial ribosomal protein L36 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1314956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 12367945 MRPL36 mitochondrial ribosomal protein L36 gene DOID:0112073 nuclear type mitochondrial complex I deficiency 9 ISO RGD:1314956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 PMID:25741868|PMID:28492532 12367945 MRPL36 mitochondrial ribosomal protein L36 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1314956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 12367945 MRPL36 mitochondrial ribosomal protein L36 gene DOID:1059 intellectual disability ISO RGD:1314956 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12367945 MRPL36 mitochondrial ribosomal protein L36 gene DOID:1059 intellectual disability ISO RGD:1314956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 12367945 MRPL36 mitochondrial ribosomal protein L36 gene DOID:630 genetic disease ISO RGD:1314956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12367945 MRPL36 mitochondrial ribosomal protein L36 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1314956 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 12367954 DUSP14 dual specificity phosphatase 14 gene DOID:0060041 autism spectrum disorder ISO RGD:1316598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 12367954 DUSP14 dual specificity phosphatase 14 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1316598 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 12367954 DUSP14 dual specificity phosphatase 14 gene DOID:12849 autistic disorder ISO RGD:1316598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12367954 DUSP14 dual specificity phosphatase 14 gene DOID:5419 schizophrenia ISO RGD:1316598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12367954 DUSP14 dual specificity phosphatase 14 gene DOID:630 genetic disease ISO RGD:1316598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367954 DUSP14 dual specificity phosphatase 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12367954 DUSP14 dual specificity phosphatase 14 gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1316598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 12367964 TENT5D terminal nucleotidyltransferase 5D gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12367964 TENT5D terminal nucleotidyltransferase 5D gene DOID:12849 autistic disorder ISO RGD:1348599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12367964 TENT5D terminal nucleotidyltransferase 5D gene DOID:630 genetic disease ISO RGD:1348599 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367982 LOC607624 protocadherin gamma-A9 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1316625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12367982 LOC607624 protocadherin gamma-A9 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1316625 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12367982 LOC607624 protocadherin gamma-A9 gene DOID:630 genetic disease ISO RGD:1316625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367982 LOC607624 protocadherin gamma-A9 gene DOID:9003634 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES ISO RGD:1316625 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies PMID:25741868|PMID:34244665 12367982 LOC607624 protocadherin gamma-A9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12367982 LOC607624 protocadherin gamma-A9 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316625 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12367988 GNPDA2 glucosamine-6-phosphate deaminase 2 gene DOID:630 genetic disease ISO RGD:1313596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12367988 GNPDA2 glucosamine-6-phosphate deaminase 2 gene DOID:9007633 Body Weight ISO RGD:1313596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219 12367988 GNPDA2 glucosamine-6-phosphate deaminase 2 gene DOID:9970 obesity ISO RGD:1313596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19079261 12368003 TMEM139 transmembrane protein 139 gene DOID:630 genetic disease ISO RGD:1602298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12368003 TMEM139 transmembrane protein 139 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1602298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 12368023 TSSC4 tumor suppressing subtransferable candidate 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12368023 TSSC4 tumor suppressing subtransferable candidate 4 gene DOID:0080773 delta beta-thalassemia ISO RGD:1316004 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12368023 TSSC4 tumor suppressing subtransferable candidate 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12368023 TSSC4 tumor suppressing subtransferable candidate 4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1316004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12368023 TSSC4 tumor suppressing subtransferable candidate 4 gene DOID:630 genetic disease ISO RGD:1316004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12368023 TSSC4 tumor suppressing subtransferable candidate 4 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1316004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12368038 CTSZ cathepsin Z gene DOID:0080600 COVID-19 ISO RGD:1352898 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12368038 CTSZ cathepsin Z gene DOID:630 genetic disease ISO RGD:1352898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12368038 CTSZ cathepsin Z gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12368038 CTSZ cathepsin Z gene DOID:9005968 Neuralgia ISO RGD:708479 D RGD:9068941 20200609 RGD PMID:18700000|REF_RGD_ID:5686878 12368038 CTSZ cathepsin Z gene DOID:9119 acute myeloid leukemia ISO RGD:1352898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12368048 RNF183 ring finger protein 183 gene DOID:630 genetic disease ISO RGD:1603182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12368058 TCEAL6 transcription elongation factor A like 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12368058 TCEAL6 transcription elongation factor A like 6 gene DOID:12849 autistic disorder ISO RGD:1606134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12368078 THPO thrombopoietin gene DOID:0050700 cardiomyopathy ISO RGD:1351706 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16651473 12368078 THPO thrombopoietin gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1351706 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12368078 THPO thrombopoietin gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1351706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12368078 THPO thrombopoietin gene DOID:0111546 Currarino syndrome ISO RGD:1351706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12368078 THPO thrombopoietin gene DOID:12449 aplastic anemia ISO RGD:1351706 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.112C>T(human) PMID:24085763|REF_RGD_ID:11073680 12368078 THPO thrombopoietin gene DOID:12449 aplastic anemia no_association ISO RGD:1351706 D RGD:9068941 20200609 RGD DNA:SNPs:exons: PMID:22686250|REF_RGD_ID:11073679 12368078 THPO thrombopoietin gene DOID:14115 toxic shock syndrome ISO RGD:1351706 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:20467749|REF_RGD_ID:10449021 12368078 THPO thrombopoietin gene DOID:1588 thrombocytopenia ISO RGD:1351706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28466964|PMID:31064749|PMID:32150607 12368078 THPO thrombopoietin gene DOID:2213 hemorrhagic disease ISO RGD:1351706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 12368078 THPO thrombopoietin gene DOID:2224 essential thrombocythemia ISO RGD:1351706 D RGD:7240710 20180130 OMIM 12368078 THPO thrombopoietin gene DOID:2224 essential thrombocythemia ISO RGD:1351706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 PMID:10583217|PMID:19553636|PMID:22194398|PMID:25741868|PMID:28492532|PMID:28955303|PMID:32430933|PMID:7772529|PMID:9425899|PMID:9694695 12368078 THPO thrombopoietin gene DOID:2228 thrombocytosis ISO RGD:1351706 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:15813844|PMID:33122006 12368078 THPO thrombopoietin gene DOID:2228 thrombocytosis susceptibility ISO RGD:1351706 D RGD:9068941 20200609 RGD DNA:deletion:5' utr PMID:9694695|REF_RGD_ID:1601655 12368078 THPO thrombopoietin gene DOID:5082 liver cirrhosis ISO RGD:1351706 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:9794189|REF_RGD_ID:1580082 12368078 THPO thrombopoietin gene DOID:5160 arteriosclerosis obliterans ISO RGD:1351706 D RGD:9068941 20200609 RGD PMID:10822072|REF_RGD_ID:1601656 12368078 THPO thrombopoietin gene DOID:630 genetic disease ISO RGD:1351706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24085763|PMID:28492532|PMID:29191945 12368078 THPO thrombopoietin gene DOID:6432 pulmonary hypertension ISO RGD:1351706 D RGD:9068941 20200609 RGD protein:increased expression:pulmonary artery, plasma PMID:12487786|REF_RGD_ID:1580087 12368078 THPO thrombopoietin gene DOID:9007096 Stroke ISO RGD:1351706 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:18367486|PMID:25741868 12368078 THPO thrombopoietin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351706 D RGD:9068941 20210416 CTD CTD Direct Evidence: therapeutic PMID:33122006 12368104 MIR29A microRNA mir-29a gene DOID:0060224 atrial fibrillation disease_progression ISO RGD:1347397 D RGD:9068941 20230330 RGD RNA:decreased expression:blood serum (human) PMID:34887365|REF_RGD_ID:242905206 12368104 MIR29A microRNA mir-29a gene DOID:13207 proliferative diabetic retinopathy ISO RGD:1347397 D RGD:9068941 20230202 RGD miRNA:increased expression:vitreous humor (human) PMID:24970617|REF_RGD_ID:155882576 12368104 MIR29A microRNA mir-29a gene DOID:13976 peptic esophagitis ISO RGD:2325393 D RGD:9068941 20200609 RGD PMID:28757556|REF_RGD_ID:25824949 12368104 MIR29A microRNA mir-29a gene DOID:3908 lung non-small cell carcinoma ISO RGD:1347397 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22048643 12368104 MIR29A microRNA mir-29a gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12368104 MIR29A microRNA mir-29a gene DOID:4989 pancreatitis ISO RGD:1347397 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12368104 MIR29A microRNA mir-29a gene DOID:557 kidney disease ISO RGD:1347397 D RGD:9068941 20201218 CTD CTD Direct Evidence: therapeutic PMID:30642005 12368104 MIR29A microRNA mir-29a gene DOID:684 hepatocellular carcinoma severity ISO RGD:1347397 D RGD:9068941 20200609 RGD associated with hepatitis B;miRNA:increased expression:liver (human) PMID:23285022|REF_RGD_ID:15042850 12368104 MIR29A microRNA mir-29a gene DOID:9007188 Liver Neoplasms ISO RGD:1347397 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21175813 12368104 MIR29A microRNA mir-29a gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1347397 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22048643 12368104 MIR29A microRNA mir-29a gene DOID:9008939 Breast Neoplasms ISO RGD:1347397 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 12368104 MIR29A microRNA mir-29a gene DOID:9351 diabetes mellitus ISO RGD:1347397 D RGD:9068941 20230413 RGD RNA:increased expression:blood: PMID:32544883|REF_RGD_ID:243065126 12368104 MIR29A microRNA mir-29a gene DOID:9351 diabetes mellitus exacerbates ISO RGD:2325393 D RGD:9068941 20230413 RGD RNA:increased expression:sciatic nerve: PMID:32544883|REF_RGD_ID:243065126 12368104 MIR29A microRNA mir-29a gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347397 D RGD:9068941 20200609 RGD RNA:increased expression:arteriole PMID:29374012|REF_RGD_ID:13702880 12368104 MIR29A microRNA mir-29a gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347397 D RGD:9068941 20230401 RGD RNA:incrased expression:blood serum (human) PMID:33116722|REF_RGD_ID:243048436 12368184 CREM cAMP responsive element modulator gene DOID:11713 diabetic angiopathy ISO RGD:735941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 12368184 CREM cAMP responsive element modulator gene DOID:224 transient cerebral ischemia ISO RGD:2402 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex (rat) PMID:12437578|REF_RGD_ID:632385 12368184 CREM cAMP responsive element modulator gene DOID:3042 allergic contact dermatitis ISO RGD:735941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 12368184 CREM cAMP responsive element modulator gene DOID:5844 myocardial infarction ISO RGD:735941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19027736 12368184 CREM cAMP responsive element modulator gene DOID:630 genetic disease ISO RGD:735941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12368184 CREM cAMP responsive element modulator gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12368184 CREM cAMP responsive element modulator gene DOID:9000040 Hypertrophy ISO RGD:735941 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12791704 12368184 CREM cAMP responsive element modulator gene DOID:9001341 Chloracne ISO RGD:735941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12368184 CREM cAMP responsive element modulator gene DOID:9003936 Cardiomegaly ISO RGD:735941 D RGD:9068941 20200609 RGD PMID:15569686|REF_RGD_ID:1581291 12368258 TRMT11 tRNA methyltransferase 11 homolog gene DOID:3068 glioblastoma ISO RGD:1314969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12368258 TRMT11 tRNA methyltransferase 11 homolog gene DOID:3908 lung non-small cell carcinoma ISO RGD:1314969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12368258 TRMT11 tRNA methyltransferase 11 homolog gene DOID:630 genetic disease ISO RGD:1314969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12368258 TRMT11 tRNA methyltransferase 11 homolog gene DOID:9000081 Lymphatic Metastasis ISO RGD:1314969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12368258 TRMT11 tRNA methyltransferase 11 homolog gene DOID:9000117 Esophageal Neoplasms ISO RGD:1314969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12368258 TRMT11 tRNA methyltransferase 11 homolog gene DOID:9002762 Ovarian Neoplasms ISO RGD:1314969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12368258 TRMT11 tRNA methyltransferase 11 homolog gene DOID:9002928 Colonic Neoplasms ISO RGD:1314969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12368258 TRMT11 tRNA methyltransferase 11 homolog gene DOID:9007188 Liver Neoplasms ISO RGD:1314969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12368258 TRMT11 tRNA methyltransferase 11 homolog gene DOID:9008939 Breast Neoplasms ISO RGD:1314969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12368275 APBB1 amyloid beta precursor protein binding family B member 1 gene DOID:0070111 Niemann-Pick disease type A ISO RGD:1349313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:1391960|PMID:15221801|PMID:17011332|PMID:18815062|PMID:1885770|PMID:2023926|PMID:21502868|PMID:25741868|PMID:27725636|PMID:28492532|PMID:29995201 12368275 APBB1 amyloid beta precursor protein binding family B member 1 gene DOID:0070112 Niemann-Pick disease type B ISO RGD:1349313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:1391960|PMID:15221801|PMID:17011332|PMID:18815062|PMID:1885770|PMID:2023926|PMID:21502868|PMID:25741868|PMID:27725636|PMID:28492532|PMID:29995201 12368275 APBB1 amyloid beta precursor protein binding family B member 1 gene DOID:10652 Alzheimer's disease ISO RGD:1349313 D RGD:9068941 20200609 RGD mRNA:altered expression:brain: PMID:10723070|REF_RGD_ID:10054036 12368275 APBB1 amyloid beta precursor protein binding family B member 1 gene DOID:10652 Alzheimer's disease no_association ISO RGD:1349313 D RGD:9068941 20200609 RGD DNA:polymorphism:intron: PMID:11099823|REF_RGD_ID:10054028 12368275 APBB1 amyloid beta precursor protein binding family B member 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1349313 D RGD:9068941 20200609 RGD DNA:deletion:intron: PMID:12727304|REF_RGD_ID:10054031 12368275 APBB1 amyloid beta precursor protein binding family B member 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1349313 D RGD:9068941 20200609 RGD DNA:mutations::multiple PMID:9799084|REF_RGD_ID:2301212 12368275 APBB1 amyloid beta precursor protein binding family B member 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1349313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12368275 APBB1 amyloid beta precursor protein binding family B member 1 gene DOID:630 genetic disease ISO RGD:1349313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12368275 APBB1 amyloid beta precursor protein binding family B member 1 gene DOID:9000998 Brain Injuries ISO RGD:2122 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:12707777|REF_RGD_ID:2301208 12368275 APBB1 amyloid beta precursor protein binding family B member 1 gene DOID:9001310 Tobacco Use Disorder susceptibility ISO RGD:1349313 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:multiple: PMID:18777128|REF_RGD_ID:10054043 12368294 MYO6 myosin VI gene DOID:0050563 nonsyndromic deafness ISO RGD:1352294 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:33279834 12368294 MYO6 myosin VI gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:1352294 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA PMID:25741868 12368294 MYO6 myosin VI gene DOID:0080600 COVID-19 ISO RGD:1352294 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12368294 MYO6 myosin VI gene DOID:0110495 autosomal recessive nonsyndromic deafness 37 ISO RGD:1352294 D RGD:7240710 20180130 OMIM 12368294 MYO6 myosin VI gene DOID:0110495 autosomal recessive nonsyndromic deafness 37 ISO RGD:1352294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 37 PMID:11167014|PMID:12687499|PMID:17576681|PMID:18212818|PMID:18348273|PMID:23767834|PMID:24033266|PMID:25741868|PMID:25741877|PMID:25999546|PMID:26445815|PMID:26467025|PMID:26969326|PMID:28492532|PMID:30311386|PMID:30582396|PMID:31589614|PMID:32143290|PMID:32747562|PMID:33724713|PMID:9536098 12368294 MYO6 myosin VI gene DOID:0110552 autosomal dominant nonsyndromic deafness 22 ISO RGD:1352294 D RGD:7240710 20180130 OMIM 12368294 MYO6 myosin VI gene DOID:0110552 autosomal dominant nonsyndromic deafness 22 ISO RGD:1352294 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: DFNA 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 22 PMID:11167014|PMID:11468689|PMID:12687499|PMID:15123708|PMID:16199547|PMID:17576681|PMID:18212818|PMID:18348273|PMID:23767834|PMID:24033266|PMID:25741868|PMID:25741877|PMID:25999546|PMID:26445815|PMID:26467025|PMID:26969326|PMID:28492532|PMID:30311386|PMID:30582396|PMID:31589614|PMID:32143290|PMID:32747562|PMID:33724713|PMID:35802133|PMID:36633841|PMID:9536098 12368294 MYO6 myosin VI gene DOID:10003 sensorineural hearing loss ISO RGD:1352294 D RGD:9068941 20200609 RGD DFNA22, OMIM:606346, DNA:point mutation:exon:C442Y PMID:11468689|REF_RGD_ID:1600556 12368294 MYO6 myosin VI gene DOID:10283 prostate cancer ISO RGD:1352294 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland epithelium, perinuclear region of cytoplasm PMID:18543251|REF_RGD_ID:2314956 12368294 MYO6 myosin VI gene DOID:10763 hypertension ISO RGD:1560646 D RGD:9068941 20200609 RGD protein:altered localization:renal proximal tubule, microvillus PMID:16107581|REF_RGD_ID:2314963 12368294 MYO6 myosin VI gene DOID:12336 male infertility ISO RGD:1352294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:9536098 12368294 MYO6 myosin VI gene DOID:2394 ovarian cancer disease_progression ISO RGD:1352294 D RGD:9068941 20200609 RGD PMID:15146066|REF_RGD_ID:2314958 12368294 MYO6 myosin VI gene DOID:303 substance-related disorder ISO RGD:1352294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12368294 MYO6 myosin VI gene DOID:4990 essential tremor ISO RGD:1352294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:25741868|PMID:33279834 12368294 MYO6 myosin VI gene DOID:630 genetic disease ISO RGD:1352294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18212818|PMID:23967202|PMID:24033266|PMID:25741868|PMID:25999546|PMID:28492532 12368294 MYO6 myosin VI gene DOID:9004538 Hearing Loss ISO RGD:1352294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:9536098 12368294 MYO6 myosin VI gene DOID:9004538 Hearing Loss ISO RGD:1352294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:12687499|PMID:17576681|PMID:18348273|PMID:21078986|PMID:23767834|PMID:24033266|PMID:25741868|PMID:25999546|PMID:28000701|PMID:28492532|PMID:30311386|PMID:30582396|PMID:32143290|PMID:9536098 12368294 MYO6 myosin VI gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1352294 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:25741868|PMID:28492532 12368294 MYO6 myosin VI gene DOID:9008768 Sensorineural Deafness with Hypertrophic Cardiomyopathy ISO RGD:1352294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural deafness with hypertrophic cardiomyopathy PMID:15060111|PMID:18212818|PMID:18348273|PMID:24033266|PMID:28492532 12368343 OR4A15 olfactory receptor family 4 subfamily A member 15 gene DOID:1059 intellectual disability ISO RGD:1348504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12368343 OR4A15 olfactory receptor family 4 subfamily A member 15 gene DOID:630 genetic disease ISO RGD:1348504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12368378 SPINT1 serine peptidase inhibitor, Kunitz type 1 gene DOID:10286 prostate carcinoma disease_progression ISO RGD:1606832 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland (human) PMID:16492908|REF_RGD_ID:1581314 12368378 SPINT1 serine peptidase inhibitor, Kunitz type 1 gene DOID:10652 Alzheimer's disease ISO RGD:1606832 D RGD:9068941 20200609 RGD protein:decreased expression:parietal cortex (human) PMID:9743567|REF_RGD_ID:1581317 12368378 SPINT1 serine peptidase inhibitor, Kunitz type 1 gene DOID:12236 primary biliary cholangitis ISO RGD:1550885 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:21898507|REF_RGD_ID:10043111 12368378 SPINT1 serine peptidase inhibitor, Kunitz type 1 gene DOID:13580 cholestasis ISO RGD:1550885 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:21898507|REF_RGD_ID:10043111 12368378 SPINT1 serine peptidase inhibitor, Kunitz type 1 gene DOID:13608 biliary atresia disease_progression ISO RGD:1606832 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:21898507|REF_RGD_ID:10043111 12368378 SPINT1 serine peptidase inhibitor, Kunitz type 1 gene DOID:1612 breast cancer severity ISO RGD:1606832 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast (human) PMID:14734471|REF_RGD_ID:1581315 12368378 SPINT1 serine peptidase inhibitor, Kunitz type 1 gene DOID:1697 ichthyosis ISO RGD:1550885 D RGD:9068941 20200609 RGD PMID:18832587|REF_RGD_ID:10043094 12368378 SPINT1 serine peptidase inhibitor, Kunitz type 1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1606832 D RGD:9068941 20200609 RGD protein:decreased expression:ovarian epithelium (human) PMID:11948120|REF_RGD_ID:1581316 12368378 SPINT1 serine peptidase inhibitor, Kunitz type 1 gene DOID:2717 Bloom syndrome ISO RGD:1606832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12368378 SPINT1 serine peptidase inhibitor, Kunitz type 1 gene DOID:5082 liver cirrhosis ISO RGD:1303138 D RGD:9068941 20200609 RGD mRNA:increased expression:spleen: PMID:15086199|REF_RGD_ID:10043112 12368378 SPINT1 serine peptidase inhibitor, Kunitz type 1 gene DOID:5517 stomach carcinoma severity ISO RGD:1606832 D RGD:9068941 20200609 RGD mRNA:decreased expression:stomach (human) PMID:16273651|REF_RGD_ID:1581312 12368378 SPINT1 serine peptidase inhibitor, Kunitz type 1 gene DOID:630 genetic disease ISO RGD:1606832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12368378 SPINT1 serine peptidase inhibitor, Kunitz type 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1606832 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon (human) PMID:16820046|REF_RGD_ID:1581311 12368378 SPINT1 serine peptidase inhibitor, Kunitz type 1 gene DOID:9256 colorectal cancer ISO RGD:1606832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12368393 WIPF1 WAS/WASL interacting protein family member 1 gene DOID:0060224 atrial fibrillation ISO RGD:736993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12368393 WIPF1 WAS/WASL interacting protein family member 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:736993 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12368393 WIPF1 WAS/WASL interacting protein family member 1 gene DOID:630 genetic disease ISO RGD:736993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12368393 WIPF1 WAS/WASL interacting protein family member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12368393 WIPF1 WAS/WASL interacting protein family member 1 gene DOID:9004016 Wiskott-Aldrich Syndrome 2 ISO RGD:736993 D RGD:7240710 20180130 OMIM 12368393 WIPF1 WAS/WASL interacting protein family member 1 gene DOID:9004016 Wiskott-Aldrich Syndrome 2 ISO RGD:736993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2 PMID:17576681|PMID:22231303|PMID:24033266|PMID:25741868|PMID:27742395|PMID:28492532|PMID:9536098 12368393 WIPF1 WAS/WASL interacting protein family member 1 gene DOID:9169 Wiskott-Aldrich syndrome ISO RGD:736993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12368411 HAP1 huntingtin associated protein 1 gene DOID:12858 Huntington's disease ISO RGD:68455 D RGD:9068941 20200609 RGD PMID:22402331|PMID:24324398|REF_RGD_ID:10401859|REF_RGD_ID:13432577 12368411 HAP1 huntingtin associated protein 1 gene DOID:12858 Huntington's disease no_association ISO RGD:68454 D RGD:9068941 20200609 RGD DNA:SNP: :p.T441M (human) PMID:22698993|REF_RGD_ID:13432576 12368411 HAP1 huntingtin associated protein 1 gene DOID:12858 Huntington's disease no_association ISO RGD:68454 D RGD:9068941 20200609 RGD DNA:SNP: :rs4523977 (human) PMID:26000918|REF_RGD_ID:13432579 12368411 HAP1 huntingtin associated protein 1 gene DOID:12858 Huntington's disease no_association ISO RGD:68454 D RGD:9068941 20200609 RGD DNA:SNP:multiple PMID:18192679|REF_RGD_ID:13432575 12368411 HAP1 huntingtin associated protein 1 gene DOID:12858 Huntington's disease onset ISO RGD:68454 D RGD:9068941 20200609 RGD DNA:SNP: :p.T441M (human) PMID:18192679|PMID:20512606|REF_RGD_ID:13432575|REF_RGD_ID:13432578 12368411 HAP1 huntingtin associated protein 1 gene DOID:1595 melancholic depression ISO RGD:68455 D RGD:9068941 20220825 MouseDO OMIM:608516 12368411 HAP1 huntingtin associated protein 1 gene DOID:374 nutrition disease ISO RGD:68455 D RGD:9068941 20200609 RGD PMID:11971876|REF_RGD_ID:1302538 12368411 HAP1 huntingtin associated protein 1 gene DOID:630 genetic disease ISO RGD:68454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12368411 HAP1 huntingtin associated protein 1 gene DOID:9007993 Dehydration ISO RGD:68455 D RGD:9068941 20200609 RGD PMID:11971876|REF_RGD_ID:1302538 12368441 HOXD10 homeobox D10 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1315169 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12368441 HOXD10 homeobox D10 gene DOID:0111568 congenital vertical talus ISO RGD:1315169 D RGD:7240710 20180130 OMIM 12368441 HOXD10 homeobox D10 gene DOID:0111568 congenital vertical talus ISO RGD:1315169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital vertical talus PMID:15146389|PMID:16450407|PMID:25741868 12368441 HOXD10 homeobox D10 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1315169 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15146389 12368441 HOXD10 homeobox D10 gene DOID:3068 glioblastoma ISO RGD:1315169 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:34737577 12368441 HOXD10 homeobox D10 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1315169 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22227861 12368441 HOXD10 homeobox D10 gene DOID:630 genetic disease ISO RGD:1315169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12368441 HOXD10 homeobox D10 gene DOID:7148 rheumatoid arthritis ISO RGD:1315169 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 12368441 HOXD10 homeobox D10 gene DOID:9000918 Disease Progression ISO RGD:1315169 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:34737577 12368441 HOXD10 homeobox D10 gene DOID:9004998 Kyphoscoliosis ISO RGD:1306511 D RGD:9068941 20200609 RGD mRNA:decreased expression:verterbra PMID:18327665|REF_RGD_ID:11354896 12368441 HOXD10 homeobox D10 gene DOID:9007364 Mouth Neoplasms ISO RGD:1315169 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22227861 12368441 HOXD10 homeobox D10 gene DOID:9007573 Flatfoot ISO RGD:1315169 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15146389|PMID:16450407|PMID:24239177 12368441 HOXD10 homeobox D10 gene DOID:9007794 Lower Extremity Deformities, Congenital ISO RGD:1315169 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9409668 12368447 AQP3 aquaporin 3 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:68638 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12368447 AQP3 aquaporin 3 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:68638 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12368447 AQP3 aquaporin 3 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:68638 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12368447 AQP3 aquaporin 3 gene DOID:11054 urinary bladder cancer ISO RGD:68638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22306368 12368447 AQP3 aquaporin 3 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:68639 D RGD:9068941 20220825 MouseDO OMIM:125800 | OMIM:304800 12368447 AQP3 aquaporin 3 gene DOID:1459 hypothyroidism ISO RGD:68428 D RGD:9068941 20200609 RGD PMID:12595491|REF_RGD_ID:704374 12368447 AQP3 aquaporin 3 gene DOID:1749 squamous cell carcinoma ISO RGD:68638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 12368447 AQP3 aquaporin 3 gene DOID:2316 brain ischemia ISO RGD:68428 D RGD:9068941 20200609 RGD PMID:19616516|REF_RGD_ID:5490152 12368447 AQP3 aquaporin 3 gene DOID:630 genetic disease ISO RGD:68638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12368447 AQP3 aquaporin 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:68638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 12368447 AQP3 aquaporin 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:68638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 12368447 AQP3 aquaporin 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:68638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18214481 12368447 AQP3 aquaporin 3 gene DOID:9004464 Skin Neoplasms ISO RGD:68638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 12368447 AQP3 aquaporin 3 gene DOID:9005873 Tongue Neoplasms ISO RGD:68638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 12368447 AQP3 aquaporin 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:68638 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12368447 AQP3 aquaporin 3 gene DOID:9870 galactosemia ISO RGD:68638 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12368465 FAM216B family with sequence similarity 216 member B gene DOID:630 genetic disease ISO RGD:1605573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12368484 GLI4 GLI family zinc finger 4 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1354466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12368484 GLI4 GLI family zinc finger 4 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1354466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12368484 GLI4 GLI family zinc finger 4 gene DOID:4621 holoprosencephaly ISO RGD:1354466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12368484 GLI4 GLI family zinc finger 4 gene DOID:630 genetic disease ISO RGD:1354466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12368509 LOC100685940 protocadherin gamma-A6 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1343927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12368509 LOC100685940 protocadherin gamma-A6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343927 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12368509 LOC100685940 protocadherin gamma-A6 gene DOID:630 genetic disease ISO RGD:1343927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12368509 LOC100685940 protocadherin gamma-A6 gene DOID:9003634 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES ISO RGD:1343927 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies PMID:25741868|PMID:34244665 12368509 LOC100685940 protocadherin gamma-A6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12368509 LOC100685940 protocadherin gamma-A6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343927 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12368533 KRT25 keratin 25 gene DOID:0110705 hypotrichosis 8 ISO RGD:1353851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotrichosis 8 PMID:24824130|PMID:26160856 12368533 KRT25 keratin 25 gene DOID:0111574 autosomal recessive woolly hair 3 ISO RGD:1353851 D RGD:7240710 20190315 OMIM 12368533 KRT25 keratin 25 gene DOID:0111574 autosomal recessive woolly hair 3 ISO RGD:1353851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Woolly hair, autosomal recessive 3 PMID:24824130|PMID:26160856|PMID:26902920 12368533 KRT25 keratin 25 gene DOID:630 genetic disease ISO RGD:1353851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12368533 KRT25 keratin 25 gene DOID:9001083 Autosomal Recessive Woolly Hair ISO RGD:1353851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12368584 OR6X1 olfactory receptor family 6 subfamily X member 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1349187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12368584 OR6X1 olfactory receptor family 6 subfamily X member 1 gene DOID:5419 schizophrenia ISO RGD:1349187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12368584 OR6X1 olfactory receptor family 6 subfamily X member 1 gene DOID:630 genetic disease ISO RGD:1349187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12368584 OR6X1 olfactory receptor family 6 subfamily X member 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12368584 OR6X1 olfactory receptor family 6 subfamily X member 1 gene DOID:9007661 Dwarfism ISO RGD:1349187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12368601 F8 coagulation factor VIII gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1343567 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12368601 F8 coagulation factor VIII gene DOID:0050476 Barth syndrome ISO RGD:1343567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12368601 F8 coagulation factor VIII gene DOID:0050800 creatine transporter deficiency ISO RGD:1343567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12368601 F8 coagulation factor VIII gene DOID:0060574 von Willebrand's disease 2 ISO RGD:1343567 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16409463|REF_RGD_ID:10766469 12368601 F8 coagulation factor VIII gene DOID:0080600 COVID-19 ISO RGD:1343567 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 12368601 F8 coagulation factor VIII gene DOID:0111823 autosomal hemophilia A ISO RGD:1343567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mild hemophilia A PMID:29357978 12368601 F8 coagulation factor VIII gene DOID:0112003 immunodeficiency 33 ISO RGD:1343567 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12368601 F8 coagulation factor VIII gene DOID:10588 adrenoleukodystrophy ISO RGD:1343567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12368601 F8 coagulation factor VIII gene DOID:10907 microcephaly ISO RGD:1343567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12368601 F8 coagulation factor VIII gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12368601 F8 coagulation factor VIII gene DOID:12134 factor VIII deficiency IAGP D RGD:12801476 20230329 OMIA Haemophilia A PMID:8943856|PMID:9495369|PMID:11012689|PMID:11851750|PMID:11886466|PMID:11882075|PMID:11882074|PMID:11882078|PMID:11882077|PMID:11882080|PMID:11882079|PMID:11882076|PMID:12138172|PMID:12410650|PMID:23209578|PMID:26278557|PMID:27766048|PMID:6981819|PMID:33636747 12368601 F8 coagulation factor VIII gene DOID:12134 factor VIII deficiency ISO RGD:1343567 D RGD:7240710 20180130 OMIM 12368601 F8 coagulation factor VIII gene DOID:12134 factor VIII deficiency ISO RGD:1343567 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar Annotator: match by term: Hemophilia A | ClinVar Annotator: match by term: Hemophilia A, congenital PMID:10215414|PMID:10338101|PMID:10404764|PMID:10519986|PMID:10609755|PMID:10896236|PMID:10910910|PMID:10910913|PMID:11102988|PMID:11110718|PMID:11189482|PMID:11251334|PMID:11298607|PMID:11341489|PMID:11410838|PMID:11442643|PMID:11554935|PMID:11713379|PMID:11748850|PMID:11843836|PMID:11857744|PMID:11858487|PMID:12139751|PMID:12204009|PMID:12325022|PMID:12351418|PMID:12406074|PMID:12871415|PMID:12884004|PMID:1301194|PMID:1301932|PMID:1301960|PMID:1349567|PMID:1357455|PMID:1412186|PMID:1523102|PMID:15471879|PMID:15569173|PMID:1559571|PMID:15625837|PMID:15670040|PMID:1569180|PMID:1569181|PMID:15710596|PMID:15735794|PMID:15741993|PMID:15810915|PMID:15921397|PMID:15996930|PMID:16128892|PMID:16173970|PMID:1639429|PMID:1643024|PMID:16601827|PMID:1671991|PMID:16769589|PMID:16786531|PMID:16834740|PMID:16972227|PMID:17209060|PMID:17222201|PMID:17445092|PMID:17498081|PMID:17550859|PMID:17610549|PMID:17610560|PMID:18034822|PMID:18184865|PMID:18217193|PMID:18371163|PMID:18387975|PMID:18403393|PMID:1840568|PMID:18479430|PMID:1851341|PMID:18565236|PMID:18600086|PMID:18691168|PMID:1908096|PMID:1908817|PMID:1923751|PMID:1924291|PMID:19369668|PMID:19377476|PMID:19448530|PMID:19456877|PMID:19473408|PMID:19473423|PMID:19548904|PMID:1969840|PMID:19719548|PMID:19719828|PMID:1973901|PMID:19740093|PMID:1979502|PMID:20028422|PMID:20102490|PMID:20108389|PMID:20193250|PMID:20300295|PMID:20301578|PMID:20331753|PMID:20331761|PMID:20431853|PMID:20533009|PMID:20536985|PMID:20800587|PMID:2104741|PMID:2104766|PMID:2105106|PMID:2105906|PMID:2106480|PMID:21070499|PMID:2107542|PMID:2109644|PMID:2110545|PMID:2121026|PMID:2121641|PMID:21217077|PMID:2125022|PMID:21371196|PMID:21462120|PMID:2159433|PMID:21645180|PMID:21645224|PMID:21645226|PMID:21689372|PMID:21751985|PMID:21838755|PMID:21883705|PMID:21910785|PMID:22103590|PMID:22958177|PMID:23534532|PMID:23625609|PMID:23711237|PMID:23711294|PMID:23809411|PMID:23812942|PMID:23913812|PMID:23926300|PMID:23961341|PMID:23963097|PMID:24033266|PMID:24086941|PMID:24108539|PMID:24118398|PMID:24134483|PMID:2473810|PMID:2493803|PMID:2495245|PMID:24953131|PMID:2498882|PMID:2506948|PMID:2510835|PMID:25326637|PMID:25628142|PMID:2563431|PMID:2567219|PMID:25708597|PMID:25741868|PMID:25741908|PMID:25824987|PMID:25854144|PMID:25948085|PMID:26308136|PMID:26383047|PMID:26879396|PMID:26897466|PMID:27292088|PMID:27868395|PMID:27943580|PMID:28252515|PMID:2831458|PMID:2833855|PMID:2835307|PMID:28492532|PMID:2861360|PMID:2887317|PMID:2901224|PMID:2907841|PMID:29296726|PMID:2986011|PMID:2987704|PMID:2993888|PMID:3035554|PMID:30534853|PMID:30913330|PMID:3097553|PMID:31064749|PMID:3122181|PMID:3131627|PMID:3137981|PMID:32166871|PMID:32581362|PMID:34355501|PMID:6253938|PMID:6438527|PMID:7579394|PMID:7662970|PMID:7728145|PMID:7794769|PMID:7959679|PMID:7984443|PMID:8011517|PMID:8052958|PMID:8054459|PMID:8069313|PMID:8281136|PMID:8307558|PMID:8322269|PMID:8449505|PMID:8485051|PMID:8490618|PMID:8497853|PMID:8547094|PMID:8576960|PMID:8584995|PMID:8639447|PMID:8644728|PMID:9184393|PMID:9326186|PMID:9452104|PMID:9569189|PMID:9594277|PMID:9792405|PMID:9829908|PMID:9886318 12368601 F8 coagulation factor VIII gene DOID:12134 factor VIII deficiency treatment ISO RGD:1343567 D RGD:9068941 20200609 RGD PMID:10468616|REF_RGD_ID:10450757 12368601 F8 coagulation factor VIII gene DOID:12134 factor VIII deficiency treatment ISO RGD:727845 D RGD:9068941 20211029 RGD PMID:31899798|REF_RGD_ID:150520060 12368601 F8 coagulation factor VIII gene DOID:12259 hemophilia B ISO RGD:1343567 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Factor IX deficiency | ClinVar Annotator: match by term: Hereditary factor IX deficiency disease PMID:10338101|PMID:10404764|PMID:10519986|PMID:10896236|PMID:10910910|PMID:10910913|PMID:11102988|PMID:11298607|PMID:11341489|PMID:11410838|PMID:11442643|PMID:11843836|PMID:11857744|PMID:12139751|PMID:12204009|PMID:12871415|PMID:1301932|PMID:1301960|PMID:1349567|PMID:1357455|PMID:15569173|PMID:15625837|PMID:15810915|PMID:15921397|PMID:15996930|PMID:16128892|PMID:16173970|PMID:16601827|PMID:1671991|PMID:16769589|PMID:16786531|PMID:16834740|PMID:16972227|PMID:17222201|PMID:17445092|PMID:17610549|PMID:18034822|PMID:18387975|PMID:18403393|PMID:18565236|PMID:18600086|PMID:18691168|PMID:1908096|PMID:1924291|PMID:19456877|PMID:19473408|PMID:19473423|PMID:19548904|PMID:19719828|PMID:1979502|PMID:20102490|PMID:20193250|PMID:20300295|PMID:20331753|PMID:20533009|PMID:20800587|PMID:2104741|PMID:2106480|PMID:21070499|PMID:21371196|PMID:21751985|PMID:21838755|PMID:21883705|PMID:23625609|PMID:23812942|PMID:23926300|PMID:2493803|PMID:2498882|PMID:2506948|PMID:25741868|PMID:25824987|PMID:25854144|PMID:27943580|PMID:2833855|PMID:29296726|PMID:2987704|PMID:31064749|PMID:32166871|PMID:34355501|PMID:6438527|PMID:7728145|PMID:7794769|PMID:8281136|PMID:8307558|PMID:8449505|PMID:8490618|PMID:8547094|PMID:8584995|PMID:8639447|PMID:8644728|PMID:9326186|PMID:9452104|PMID:9569189|PMID:9829908|PMID:9886318 12368601 F8 coagulation factor VIII gene DOID:1247 blood coagulation disease ISO RGD:1343567 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of coagulation PMID:1301932|PMID:25741868|PMID:31064749|PMID:8485051 12368601 F8 coagulation factor VIII gene DOID:12849 autistic disorder ISO RGD:1343567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12368601 F8 coagulation factor VIII gene DOID:13628 favism ISO RGD:1343567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12368601 F8 coagulation factor VIII gene DOID:1969 cerebral palsy ISO RGD:1343567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12368601 F8 coagulation factor VIII gene DOID:2213 hemorrhagic disease ISO RGD:1343567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 12368601 F8 coagulation factor VIII gene DOID:2452 thrombophilia ISO RGD:1343567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16628723 12368601 F8 coagulation factor VIII gene DOID:2729 dyskeratosis congenita ISO RGD:1343567 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12368601 F8 coagulation factor VIII gene DOID:417 autoimmune disease ISO RGD:1343567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11886462 12368601 F8 coagulation factor VIII gene DOID:607 paraplegia ISO RGD:1343567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12368601 F8 coagulation factor VIII gene DOID:630 genetic disease ISO RGD:1343567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18691168|PMID:19473423|PMID:21371196|PMID:25741868|PMID:25824987|PMID:28492532|PMID:29296726|PMID:31064749|PMID:32166871|PMID:9886318 12368601 F8 coagulation factor VIII gene DOID:801 hemarthrosis treatment ISO RGD:727845 D RGD:9068941 20211029 RGD PMID:31899798|REF_RGD_ID:150520060 12368601 F8 coagulation factor VIII gene DOID:9001708 Hemorrhagic Shock ISO RGD:727845 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:15748447|REF_RGD_ID:10450768 12368601 F8 coagulation factor VIII gene DOID:9002720 Splenomegaly ISO RGD:1343567 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12368601 F8 coagulation factor VIII gene DOID:9003121 Thromboembolism ISO RGD:1343567 D RGD:9068941 20200609 RGD PMID:15634269|REF_RGD_ID:1582359 12368601 F8 coagulation factor VIII gene DOID:9003305 X-Linked Thrombophilia due to Factor VIII Defect ISO RGD:1343567 D RGD:7240710 20220316 OMIM 12368601 F8 coagulation factor VIII gene DOID:9003305 X-Linked Thrombophilia due to Factor VIII Defect ISO RGD:1343567 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT PMID:11442643|PMID:1301932|PMID:1412186|PMID:17498081|PMID:18479430|PMID:18691168|PMID:1908096|PMID:1924291|PMID:19369668|PMID:19473423|PMID:19548904|PMID:19719548|PMID:20028422|PMID:20102490|PMID:20301578|PMID:2121641|PMID:21645226|PMID:22958177|PMID:23625609|PMID:23711237|PMID:23913812|PMID:23961341|PMID:24033266|PMID:24108539|PMID:24134483|PMID:25326637|PMID:25628142|PMID:25708597|PMID:25741868|PMID:25824987|PMID:25854144|PMID:27292088|PMID:27868395|PMID:27943580|PMID:28252515|PMID:28492532|PMID:29296726|PMID:29357978|PMID:30913330|PMID:31064749|PMID:32166871|PMID:6438527|PMID:7579394|PMID:7728145|PMID:8281136|PMID:8307558|PMID:8449505|PMID:8639447|PMID:9829908|PMID:9886318 12368601 F8 coagulation factor VIII gene DOID:9003871 Venous Thrombosis ISO RGD:1343567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16875063 12368601 F8 coagulation factor VIII gene DOID:9003871 Venous Thrombosis ISO RGD:1343567 D RGD:9068941 20200609 RGD PMID:15634269|REF_RGD_ID:1582359 12368601 F8 coagulation factor VIII gene DOID:9004755 Hemophilic Arthropathy treatment ISO RGD:727845 D RGD:9068941 20211029 RGD PMID:27060449|REF_RGD_ID:150520059 12368601 F8 coagulation factor VIII gene DOID:9005930 Endotoxemia ISO RGD:727845 D RGD:9068941 20200609 RGD PMID:11092686|REF_RGD_ID:7394782 12368601 F8 coagulation factor VIII gene DOID:9006035 Factor VIII Deficiency, Acquired ISO RGD:1343567 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11886462 12368601 F8 coagulation factor VIII gene DOID:9007096 Stroke ISO RGD:1343567 D RGD:9068941 20200609 RGD PMID:15202164|REF_RGD_ID:1582360 12368601 F8 coagulation factor VIII gene DOID:9008217 Hemorrhage ISO RGD:1343567 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hemorrhage PMID:25741868|PMID:6438527|PMID:7728145 12368601 F8 coagulation factor VIII gene DOID:9008217 Hemorrhage treatment ISO RGD:1343567 D RGD:9068941 20200609 RGD PMID:24931420|REF_RGD_ID:11530071 12368601 F8 coagulation factor VIII gene DOID:9279 hyperhomocysteinemia ISO RGD:727845 D RGD:9068941 20200609 RGD PMID:16046705|REF_RGD_ID:1601105 12368601 F8 coagulation factor VIII gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343567 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:7974333|REF_RGD_ID:2312416 12368635 PTH parathyroid hormone gene DOID:0050459 hyperphosphatemia ISO RGD:3440 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:23548309|REF_RGD_ID:7242565 12368635 PTH parathyroid hormone gene DOID:0050459 hyperphosphatemia ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12399635 12368635 PTH parathyroid hormone gene DOID:0050459 hyperphosphatemia ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:23211335|REF_RGD_ID:7242693 12368635 PTH parathyroid hormone gene DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria ISO RGD:11186 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (mouse) PMID:19570882|REF_RGD_ID:7242924 12368635 PTH parathyroid hormone gene DOID:0060224 atrial fibrillation ISO RGD:69107 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23460043|REF_RGD_ID:7242420 12368635 PTH parathyroid hormone gene DOID:0080011 bone resorption disease ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9881647 12368635 PTH parathyroid hormone gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:69107 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:23470222|REF_RGD_ID:7242417 12368635 PTH parathyroid hormone gene DOID:0090109 autosomal dominant hypocalcemia ISO RGD:3440 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:22581996|REF_RGD_ID:7242904 12368635 PTH parathyroid hormone gene DOID:0111387 familial isolated hypoparathyroidism ISO RGD:69107 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial isolated hypoparathyroidism PMID:1302009|PMID:1425431|PMID:18784115|PMID:24033266|PMID:25741868|PMID:28492532 12368635 PTH parathyroid hormone gene DOID:1059 intellectual disability ISO RGD:69107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12368635 PTH parathyroid hormone gene DOID:10609 rickets ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10375030 12368635 PTH parathyroid hormone gene DOID:10754 otitis media ISO RGD:69107 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23543299|REF_RGD_ID:7242409 12368635 PTH parathyroid hormone gene DOID:10763 hypertension ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1930854 12368635 PTH parathyroid hormone gene DOID:10763 hypertension ISO RGD:69107 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23460043|REF_RGD_ID:7242420 12368635 PTH parathyroid hormone gene DOID:11202 primary hyperparathyroidism ISO RGD:69107 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Primary hyperparathyroidism PMID:1425431|PMID:18784115|PMID:25741868 12368635 PTH parathyroid hormone gene DOID:11476 osteoporosis ISO RGD:3440 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:22312238|REF_RGD_ID:7242907 12368635 PTH parathyroid hormone gene DOID:11476 osteoporosis ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15710971|PMID:17317460|PMID:17882678|PMID:19578808|PMID:21306167|PMID:30639440 12368635 PTH parathyroid hormone gene DOID:11476 osteoporosis treatment ISO RGD:3440 D RGD:9068941 20200609 RGD PMID:23161222|REF_RGD_ID:7242793 12368635 PTH parathyroid hormone gene DOID:12466 secondary hyperparathyroidism ISO RGD:3440 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:23499504|REF_RGD_ID:7242414 12368635 PTH parathyroid hormone gene DOID:12466 secondary hyperparathyroidism ISO RGD:3440 D RGD:9068941 20200609 RGD associated with Uremia PMID:21335517|REF_RGD_ID:5135046 12368635 PTH parathyroid hormone gene DOID:12466 secondary hyperparathyroidism ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21350317|PMID:22118402|PMID:22373954 12368635 PTH parathyroid hormone gene DOID:12466 secondary hyperparathyroidism ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; DNA:snp:exon:g.350C>A (rs6256) (human) PMID:12046039|REF_RGD_ID:7242750 12368635 PTH parathyroid hormone gene DOID:12466 secondary hyperparathyroidism ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) PMID:23121374|REF_RGD_ID:7242728 12368635 PTH parathyroid hormone gene DOID:12466 secondary hyperparathyroidism treatment ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:23529273|REF_RGD_ID:7242411 12368635 PTH parathyroid hormone gene DOID:12678 hypercalcemia ISO RGD:3440 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:23261531|REF_RGD_ID:7242689 12368635 PTH parathyroid hormone gene DOID:12678 hypercalcemia ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10638776|PMID:12399635|PMID:17164314|PMID:4004906|PMID:7891547|PMID:9382671 12368635 PTH parathyroid hormone gene DOID:12679 nephrocalcinosis ISO RGD:3440 D RGD:9068941 20200609 RGD PMID:23344571|REF_RGD_ID:7242573 12368635 PTH parathyroid hormone gene DOID:13068 renal osteodystrophy ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; protein:decreased expression:serum (human) PMID:18480316|REF_RGD_ID:7242687 12368635 PTH parathyroid hormone gene DOID:205 hyperostosis ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25289773 12368635 PTH parathyroid hormone gene DOID:2355 anemia ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15354979|PMID:19578808 12368635 PTH parathyroid hormone gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24803734 12368635 PTH parathyroid hormone gene DOID:3347 osteosarcoma ISO RGD:69107 D RGD:9068941 20200609 RGD human protein in rat model PMID:22688001|REF_RGD_ID:7242897 12368635 PTH parathyroid hormone gene DOID:3393 coronary artery disease ISO RGD:69107 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23460043|REF_RGD_ID:7242420 12368635 PTH parathyroid hormone gene DOID:4676 uremia ISO RGD:3440 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:serum (rat) PMID:22902873|REF_RGD_ID:7242742 12368635 PTH parathyroid hormone gene DOID:4676 uremia ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2051637 12368635 PTH parathyroid hormone gene DOID:6000 congestive heart failure ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17162251 12368635 PTH parathyroid hormone gene DOID:6000 congestive heart failure ISO RGD:69107 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21939825|REF_RGD_ID:7242422 12368635 PTH parathyroid hormone gene DOID:630 genetic disease ISO RGD:69107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12368635 PTH parathyroid hormone gene DOID:783 end stage renal disease ISO RGD:3440 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:23548814|REF_RGD_ID:7242564 12368635 PTH parathyroid hormone gene DOID:783 end stage renal disease severity ISO RGD:69107 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23243213|REF_RGD_ID:7242692 12368635 PTH parathyroid hormone gene DOID:784 chronic kidney disease ISO RGD:3440 D RGD:9068941 20200609 RGD PMID:22517117|REF_RGD_ID:7242949 12368635 PTH parathyroid hormone gene DOID:784 chronic kidney disease ISO RGD:3440 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (rat) PMID:21826734|REF_RGD_ID:7242935 12368635 PTH parathyroid hormone gene DOID:784 chronic kidney disease severity ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; protein:increased expression:serum (human) PMID:23528898|REF_RGD_ID:7242412 12368635 PTH parathyroid hormone gene DOID:784 chronic kidney disease treatment ISO RGD:11186 D RGD:9068941 20200609 RGD PMID:23345625|REF_RGD_ID:7242572 12368635 PTH parathyroid hormone gene DOID:784 chronic kidney disease treatment ISO RGD:69107 D RGD:9068941 20200609 RGD PMID:23467111|REF_RGD_ID:7242418 12368635 PTH parathyroid hormone gene DOID:7998 hyperthyroidism ISO RGD:69107 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Primary hyperthyroidism PMID:1425431|PMID:18784115|PMID:25741868 12368635 PTH parathyroid hormone gene DOID:8929 atrophic gastritis ISO RGD:69107 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23447517|REF_RGD_ID:7242421 12368635 PTH parathyroid hormone gene DOID:9000492 Familial Isolated Hypoparathyroidism 1 ISO RGD:69107 D RGD:7240710 20200520 OMIM 12368635 PTH parathyroid hormone gene DOID:9000492 Familial Isolated Hypoparathyroidism 1 ISO RGD:69107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, familial isolated 1 PMID:10523031|PMID:18056632|PMID:2212001|PMID:24033266|PMID:25741868|PMID:28492532|PMID:3005800 12368635 PTH parathyroid hormone gene DOID:9001542 Albuminuria ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) PMID:23066118|REF_RGD_ID:7242730 12368635 PTH parathyroid hormone gene DOID:9001547 Tibial Fractures ISO RGD:69107 D RGD:9068941 20200609 RGD human protein in rat model PMID:23585311|REF_RGD_ID:7242790 12368635 PTH parathyroid hormone gene DOID:9001738 Hypercalciuria ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17164314 12368635 PTH parathyroid hormone gene DOID:9002165 Diabetic Nephropathies ISO RGD:69107 D RGD:9068941 20200609 RGD DNA:snps:exon, intron:g.350C>A, g.IVS2+56G>A (rs6256, rs6254) (human) PMID:22777106|REF_RGD_ID:7242744 12368635 PTH parathyroid hormone gene DOID:9002589 Bone Fractures ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16094769 12368635 PTH parathyroid hormone gene DOID:9002589 Bone Fractures ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) PMID:23043229|REF_RGD_ID:7242731 12368635 PTH parathyroid hormone gene DOID:9004331 Parathyroid Neoplasms ISO RGD:69107 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23534747|REF_RGD_ID:7242410 12368635 PTH parathyroid hormone gene DOID:9004397 calcification of aortic valve disease_progression ISO RGD:3440 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:22634235|REF_RGD_ID:7242900 12368635 PTH parathyroid hormone gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) PMID:23168286|REF_RGD_ID:7242699 12368635 PTH parathyroid hormone gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:22647434|REF_RGD_ID:7242899 12368635 PTH parathyroid hormone gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20567999 12368635 PTH parathyroid hormone gene DOID:9005354 Hypoparathyroidism, Autosomal Recessive ISO RGD:69107 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS2+1G>C (human) PMID:1302009|REF_RGD_ID:1598943 12368635 PTH parathyroid hormone gene DOID:9006205 Animal Disease Models ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30639440 12368635 PTH parathyroid hormone gene DOID:9006332 Vascular Calcification ISO RGD:3440 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:23486515|REF_RGD_ID:7242416 12368635 PTH parathyroid hormone gene DOID:9006332 Vascular Calcification disease_progression ISO RGD:3440 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:22634235|REF_RGD_ID:7242900 12368635 PTH parathyroid hormone gene DOID:9006849 Phosphaturia ISO RGD:3440 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:22859939|REF_RGD_ID:8655928 12368635 PTH parathyroid hormone gene DOID:9007096 Stroke ISO RGD:69107 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23460043|REF_RGD_ID:7242420 12368635 PTH parathyroid hormone gene DOID:9007819 Endocrine Bone Diseases ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18635661 12368635 PTH parathyroid hormone gene DOID:9009050 Hypocalcemia ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11701698|PMID:11770836 12368635 PTH parathyroid hormone gene DOID:9352 type 2 diabetes mellitus ISO RGD:69107 D RGD:9068941 20200609 RGD DNA:snp:exon:g.350C>A rs6256 (human) PMID:22777106|REF_RGD_ID:7242744 12368635 PTH parathyroid hormone gene DOID:9744 type 1 diabetes mellitus ISO RGD:69107 D RGD:9068941 20200609 RGD DNA:snp:exon:g.350C>A rs6256 (human) PMID:22777106|REF_RGD_ID:7242744 12368659 PMPCB peptidase, mitochondrial processing subunit beta gene DOID:0060902 Norman-Roberts syndrome ISO RGD:733027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:10973257|PMID:17124408|PMID:26046367|PMID:28454995|PMID:28492532 12368659 PMPCB peptidase, mitochondrial processing subunit beta gene DOID:0070332 multiple mitochondrial dysfunctions syndrome 6 ISO RGD:733027 D RGD:7240710 20190315 OMIM 12368659 PMPCB peptidase, mitochondrial processing subunit beta gene DOID:0070332 multiple mitochondrial dysfunctions syndrome 6 ISO RGD:733027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 6 | ClinVar Annotator: match by term: PMPCB-related mitochondrial disorder PMID:25741868|PMID:28492532|PMID:29576218 12368659 PMPCB peptidase, mitochondrial processing subunit beta gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12368659 PMPCB peptidase, mitochondrial processing subunit beta gene DOID:630 genetic disease ISO RGD:733027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29576218 12368676 NEB nebulin gene DOID:0110928 nemaline myopathy 2 IAGP D RGD:12801476 20210603 OMIA Nemaline myopathy, NEB-related PMID:27215641 12368839 LOC476900 membrane-spanning 4-domains subfamily A member 4A gene DOID:0080600 COVID-19 ISO RGD:1315944 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12368839 LOC476900 membrane-spanning 4-domains subfamily A member 4A gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1315944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12368839 LOC476900 membrane-spanning 4-domains subfamily A member 4A gene DOID:1059 intellectual disability ISO RGD:1315944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12368839 LOC476900 membrane-spanning 4-domains subfamily A member 4A gene DOID:10652 Alzheimer's disease ISO RGD:1315944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21460841 12368839 LOC476900 membrane-spanning 4-domains subfamily A member 4A gene DOID:630 genetic disease ISO RGD:1315944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12368839 LOC476900 membrane-spanning 4-domains subfamily A member 4A gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1315944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12368850 SSR3 signal sequence receptor subunit 3 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1349375 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:30945312 12368850 SSR3 signal sequence receptor subunit 3 gene DOID:630 genetic disease ISO RGD:1349375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12368859 ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:2303680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12368859 ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:2303680 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12368859 ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator gene DOID:0110541 autosomal dominant nonsyndromic deafness 1 ISO RGD:2303680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA PMID:28492532 12368859 ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:2303680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12368859 ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator gene DOID:630 genetic disease ISO RGD:2303680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12368859 ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2303680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12368859 ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2303680 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12368874 PWWP2A PWWP domain containing 2A gene DOID:630 genetic disease ISO RGD:1642916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12368883 PSMD12 proteasome 26S subunit, non-ATPase 12 gene DOID:0070165 spermatogenic failure 18 ISO RGD:1348717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 18 12368883 PSMD12 proteasome 26S subunit, non-ATPase 12 gene DOID:1059 intellectual disability ISO RGD:1348717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12368883 PSMD12 proteasome 26S subunit, non-ATPase 12 gene DOID:2773 contact dermatitis ISO RGD:1348717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12368883 PSMD12 proteasome 26S subunit, non-ATPase 12 gene DOID:630 genetic disease ISO RGD:1348717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12368883 PSMD12 proteasome 26S subunit, non-ATPase 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348717 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12368883 PSMD12 proteasome 26S subunit, non-ATPase 12 gene DOID:9006298 Stankiewicz-Isidor Syndrome ISO RGD:1348717 D RGD:7240710 20190315 OMIM 12368883 PSMD12 proteasome 26S subunit, non-ATPase 12 gene DOID:9006298 Stankiewicz-Isidor Syndrome ISO RGD:1348717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stankiewicz-Isidor syndrome PMID:25741868|PMID:28132691 12368883 PSMD12 proteasome 26S subunit, non-ATPase 12 gene DOID:9008086 Developmental Disabilities ISO RGD:1348717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12368900 SPR sepiapterin reductase gene DOID:0050473 Alstrom syndrome ISO RGD:1346391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 12368900 SPR sepiapterin reductase gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1346391 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12368900 SPR sepiapterin reductase gene DOID:0080600 COVID-19 ISO RGD:1346391 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12368900 SPR sepiapterin reductase gene DOID:0090043 dystonia 5 ISO RGD:1346391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dopa-responsive dystonia 12368900 SPR sepiapterin reductase gene DOID:0111168 sepiapterin reductase deficiency ISO RGD:1346391 D RGD:7240710 20180130 OMIM 12368900 SPR sepiapterin reductase gene DOID:0111168 sepiapterin reductase deficiency ISO RGD:1346391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dopa-responsive dystonia due to sepiapterin reductase deficiency PMID:10384371|PMID:11443547|PMID:15241655|PMID:16049044|PMID:16650784|PMID:16752391|PMID:16917893|PMID:17159114|PMID:18414213|PMID:18502672|PMID:19130291|PMID:19491146|PMID:21431957|PMID:21677200|PMID:22291068|PMID:22522443|PMID:23430877|PMID:24212389|PMID:25741868|PMID:25763508|PMID:28492532|PMID:29116116|PMID:29147684|PMID:31041399|PMID:33098801|PMID:33822819|PMID:9700606 12368900 SPR sepiapterin reductase gene DOID:1059 intellectual disability ISO RGD:1346391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:32581362 12368900 SPR sepiapterin reductase gene DOID:14330 Parkinson's disease ISO RGD:736908 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 12368900 SPR sepiapterin reductase gene DOID:543 dystonia ISO RGD:1346391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder PMID:11443547|PMID:16697227|PMID:16752391|PMID:16917893|PMID:17159114|PMID:17576681|PMID:18502672|PMID:19130291|PMID:19491146|PMID:21431957|PMID:21677200|PMID:22522443|PMID:23430877|PMID:23542699|PMID:23640889|PMID:24212389|PMID:24588500|PMID:25741868|PMID:25763508|PMID:28492532|PMID:29116116|PMID:29147684|PMID:30682498|PMID:32581362|PMID:33098801|PMID:33822819|PMID:9536098 12368900 SPR sepiapterin reductase gene DOID:543 dystonia susceptibility ISO RGD:1346391 D RGD:9068941 20200609 RGD DNA:deletion, transitions PMID:11443547|REF_RGD_ID:1600054 12368900 SPR sepiapterin reductase gene DOID:630 genetic disease ISO RGD:1346391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22522443|PMID:25741868|PMID:28492532 12368900 SPR sepiapterin reductase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1346391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12368907 TXNRD3 thioredoxin reductase 3 gene DOID:0050860 colorectal adenoma ISO RGD:1318088 D RGD:9068941 20220407 RGD mRNA:increased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 12368907 TXNRD3 thioredoxin reductase 3 gene DOID:0080199 colorectal carcinoma ISO RGD:1318088 D RGD:9068941 20220407 RGD mRNA:increased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 12368907 TXNRD3 thioredoxin reductase 3 gene DOID:630 genetic disease ISO RGD:1318088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12368907 TXNRD3 thioredoxin reductase 3 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1318088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12368907 TXNRD3 thioredoxin reductase 3 gene DOID:9270 alkaptonuria ISO RGD:1318088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12368926 PTPRO protein tyrosine phosphatase receptor type O gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:731757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12368926 PTPRO protein tyrosine phosphatase receptor type O gene DOID:0080384 nephrotic syndrome type 6 ISO RGD:731757 D RGD:7240710 20180130 OMIM 12368926 PTPRO protein tyrosine phosphatase receptor type O gene DOID:0080384 nephrotic syndrome type 6 ISO RGD:731757 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 6 PMID:21722858|PMID:25741868|PMID:28492532 12368926 PTPRO protein tyrosine phosphatase receptor type O gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:731757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12368926 PTPRO protein tyrosine phosphatase receptor type O gene DOID:0080600 COVID-19 ISO RGD:731757 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12368926 PTPRO protein tyrosine phosphatase receptor type O gene DOID:1909 melanoma ISO RGD:731757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 12368926 PTPRO protein tyrosine phosphatase receptor type O gene DOID:630 genetic disease ISO RGD:731757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12368926 PTPRO protein tyrosine phosphatase receptor type O gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12368926 PTPRO protein tyrosine phosphatase receptor type O gene DOID:9007188 Liver Neoplasms ISO RGD:731757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941|PMID:20163174 12368960 DOCK1 dedicator of cytokinesis 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1315227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12368960 DOCK1 dedicator of cytokinesis 1 gene DOID:0080600 COVID-19 ISO RGD:1315227 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12368960 DOCK1 dedicator of cytokinesis 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1315228 D RGD:9068941 20220825 MouseDO OMIM:188400 12368960 DOCK1 dedicator of cytokinesis 1 gene DOID:303 substance-related disorder ISO RGD:1315227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12368960 DOCK1 dedicator of cytokinesis 1 gene DOID:630 genetic disease ISO RGD:1315227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17670792|PMID:17765544|PMID:18332221|PMID:18591431|PMID:18820033|PMID:20829512|PMID:25022758|PMID:26527617|PMID:27662902|PMID:3372592 12368960 DOCK1 dedicator of cytokinesis 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1315228 D RGD:9068941 20220825 MouseDO OMIM:187500 12369018 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:737468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12369018 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:10763 hypertension ISO RGD:2835 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:kidney PMID:10792625|REF_RGD_ID:2308925 12369018 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:10763 hypertension ISO RGD:2835 D RGD:9068941 20220204 RGD PMID:26077568|REF_RGD_ID:13800514 12369018 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:10763 hypertension ISO RGD:737468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11082157|PMID:7670488|PMID:9683905|PMID:9707624 12369018 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:10763 hypertension ISO RGD:737468 D RGD:9068941 20200609 RGD apparent mineralocorticoid excess syndrome, OMIM:218030; DNA:transition:CDS:945C->T, amino acid R279C PMID:9683587|REF_RGD_ID:1625078 12369018 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:1184 nephrotic syndrome ISO RGD:737468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15199296 12369018 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:2841 asthma ISO RGD:737468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11932298 12369018 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:4367 apparent mineralocorticoid excess syndrome ISO RGD:737468 D RGD:7240710 20180130 OMIM 12369018 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:4367 apparent mineralocorticoid excess syndrome ISO RGD:737468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Apparent mineralocorticoid excess | ClinVar Annotator: match by term: Apparent mineralocorticoid excess, mild PMID:10536001|PMID:11114699|PMID:11238516|PMID:12788846|PMID:15126515|PMID:15134813|PMID:15673310|PMID:16778331|PMID:17314322|PMID:20571110|PMID:23303402|PMID:24123366|PMID:25593612|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33532864|PMID:3860318|PMID:7593417|PMID:7593456|PMID:7608290|PMID:7670488|PMID:9398712|PMID:9683587|PMID:9707624|PMID:9851783 12369018 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:5082 liver cirrhosis ISO RGD:737468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15199296 12369018 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:5199 ureteral obstruction ISO RGD:2835 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:17475897|REF_RGD_ID:2308940 12369018 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:5844 myocardial infarction ISO RGD:2835 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:17587755|REF_RGD_ID:2308939 12369018 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:5844 myocardial infarction ISO RGD:737468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17587755 12369018 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:737468 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12369018 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:655 inherited metabolic disorder ISO RGD:737468 D RGD:9068941 20200609 RGD apparent mineralocorticoid excess syndrome, OMIM:218030; DNA:transition:CDS:945C->T, amino acid R279C PMID:9683587|REF_RGD_ID:1625078 12369018 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2835 D RGD:9068941 20200609 RGD associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney PMID:17272666|REF_RGD_ID:2308941 12369018 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9004702 Pregnancy Complications ISO RGD:737468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11932298 12369018 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737468 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:skeletal muscle PMID:17519316|REF_RGD_ID:2308922 12369018 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16616286 12369018 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737468 D RGD:9068941 20200609 RGD PMID:11916625|PMID:16616286|REF_RGD_ID:2308923|REF_RGD_ID:2308924 12369018 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9970 obesity ISO RGD:2835 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue:subcutaneous not retroperitoneal fat PMID:17208436|REF_RGD_ID:1625081 12369018 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9970 obesity resistance ISO RGD:10735 D RGD:9068941 20200609 RGD transgenic mice expressing human HSD11B2 PMID:15793240|REF_RGD_ID:1625083 12369018 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9970 obesity resistance ISO RGD:737468 D RGD:9068941 20200609 RGD transgenic mice expressing human HSD11B2 PMID:15793240|REF_RGD_ID:1625083 12369026 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:17660294|PMID:23934111|PMID:25741868|PMID:26680202|PMID:28135719|PMID:28492532|PMID:30343943|PMID:31785789|PMID:32695065|PMID:33776624|PMID:35937981 12369026 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:0060239 Van der Woude syndrome ISO RGD:733702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Van der Woude syndrome 1 PMID:17660294|PMID:23934111|PMID:25741868|PMID:28492532|PMID:30343943 12369026 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:733702 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:25741868 12369026 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:733702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12369026 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17660294|PMID:23934111|PMID:25741868|PMID:26680202|PMID:28135719|PMID:28492532|PMID:30343943|PMID:31785789|PMID:32695065|PMID:33776624|PMID:35937981 12369026 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:0112205 developmental and epileptic encephalopathy 69 ISO RGD:733702 D RGD:7240710 20190315 OMIM 12369026 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:0112205 developmental and epileptic encephalopathy 69 ISO RGD:733702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 69 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 PMID:17660294|PMID:23934111|PMID:25741868|PMID:28492532|PMID:30343943|PMID:32695065|PMID:33776624|PMID:34702355|PMID:34906502|PMID:35937981 12369026 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:1059 intellectual disability ISO RGD:733702 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12369026 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:1540 parathyroid carcinoma ISO RGD:733702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12369026 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:733702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:28492532 12369026 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:4195 hyperglycemia ISO RGD:733703 D RGD:9068941 20200609 RGD PMID:11735114|REF_RGD_ID:734670 12369026 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:630 genetic disease ISO RGD:733702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17660294|PMID:23934111|PMID:25741868|PMID:26680202|PMID:28492532|PMID:30343943|PMID:32695065|PMID:33776624|PMID:35937981 12369026 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:9006462 Coma ISO RGD:733702 D RGD:8554872 20220621 ClinVar ClinVar Annotator: match by term: Episodic coma PMID:28492532 12369026 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:733702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12369026 CACNA1E calcium voltage-gated channel subunit alpha1 E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12369102 MTF1 metal regulatory transcription factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1319031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12369102 MTF1 metal regulatory transcription factor 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12369102 MTF1 metal regulatory transcription factor 1 gene DOID:12849 autistic disorder ISO RGD:1319031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15446388 12369102 MTF1 metal regulatory transcription factor 1 gene DOID:630 genetic disease ISO RGD:1319031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12369125 TSPAN15 tetraspanin 15 gene DOID:630 genetic disease ISO RGD:1351907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12369137 STRA8 stimulated by retinoic acid 8 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12369137 STRA8 stimulated by retinoic acid 8 gene DOID:630 genetic disease ISO RGD:1604701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12369152 CYB5RL cytochrome b5 reductase like gene DOID:630 genetic disease ISO RGD:2302325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12369170 NONO non-POU domain containing octamer binding gene DOID:0050700 cardiomyopathy ISO RGD:1343083 D RGD:9068941 20230128 RGD DNA:SNPs:nonsense mutations, splice-site mutation:CDS, intron:c.457C>T, c.550C>T, c.1171+1G>A (human) PMID:31883306|REF_RGD_ID:155882460 12369170 NONO non-POU domain containing octamer binding gene DOID:0050902 medulloblastoma ISO RGD:1343083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26822237 12369170 NONO non-POU domain containing octamer binding gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:1343083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532 12369170 NONO non-POU domain containing octamer binding gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12369170 NONO non-POU domain containing octamer binding gene DOID:0060817 syndromic X-linked intellectual disability 34 ISO RGD:1343083 D RGD:7240710 20190315 OMIM 12369170 NONO non-POU domain containing octamer binding gene DOID:0060817 syndromic X-linked intellectual disability 34 ISO RGD:1343083 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34 PMID:25741868|PMID:26571461|PMID:27329731|PMID:27550220|PMID:28492532|PMID:31883306|PMID:32238909 12369170 NONO non-POU domain containing octamer binding gene DOID:0080685 aortic dissection ISO RGD:1343083 D RGD:9068941 20230128 RGD mRNA, protein:decreased expression:aorta wall (human) PMID:24720418|REF_RGD_ID:155882452 12369170 NONO non-POU domain containing octamer binding gene DOID:1059 intellectual disability ISO RGD:1343083 D RGD:9068941 20230128 RGD DNA:nonsense mutation, silent mutation, frameshift mutation:CDS:p.R365*, p.A377A, p.N466Kfs*13 (human) PMID:26571461|REF_RGD_ID:11058183 12369170 NONO non-POU domain containing octamer binding gene DOID:1059 intellectual disability ISO RGD:1343083 D RGD:9068941 20230216 RGD DNA:missense mutation:CDS:p.P459A (human) PMID:36653413|REF_RGD_ID:155900764 12369170 NONO non-POU domain containing octamer binding gene DOID:10603 glucose intolerance ISO RGD:1343083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29358041 12369170 NONO non-POU domain containing octamer binding gene DOID:12849 autistic disorder ISO RGD:1343083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12369170 NONO non-POU domain containing octamer binding gene DOID:1682 congenital heart disease ISO RGD:1343083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:27550220|PMID:31680349 12369170 NONO non-POU domain containing octamer binding gene DOID:1936 atherosclerosis ISO RGD:1343083 D RGD:9068941 20230216 RGD mRNA, protein:increased expression:coronary artery (human) PMID:33626912|REF_RGD_ID:155900763 12369170 NONO non-POU domain containing octamer binding gene DOID:1936 atherosclerosis severity ISO RGD:1557128 D RGD:9068941 20230128 RGD PMID:29673854|REF_RGD_ID:155882449 12369170 NONO non-POU domain containing octamer binding gene DOID:2154 nephroblastoma ISO RGD:1343083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 12369170 NONO non-POU domain containing octamer binding gene DOID:224 transient cerebral ischemia ISO RGD:1557128 D RGD:9068941 20230209 RGD protein:altered localization:cerebral cortex (mouse) PMID:29426953|REF_RGD_ID:155883175 12369170 NONO non-POU domain containing octamer binding gene DOID:2377 multiple sclerosis ISO RGD:1343083 D RGD:9068941 20230218 RGD mRNA:altered expression:peripheral blood mononuclear cell (human) PMID:29100048|REF_RGD_ID:156420155 12369170 NONO non-POU domain containing octamer binding gene DOID:5844 myocardial infarction ameliorates ISO RGD:1557128 D RGD:9068941 20230128 RGD PMID:35247074|REF_RGD_ID:155882458 12369170 NONO non-POU domain containing octamer binding gene DOID:630 genetic disease ISO RGD:1343083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22416126|PMID:25741868|PMID:26571461|PMID:28492532 12369170 NONO non-POU domain containing octamer binding gene DOID:7693 abdominal aortic aneurysm ameliorates ISO RGD:1557128 D RGD:9068941 20230128 RGD PMID:31512366|REF_RGD_ID:155882451 12369170 NONO non-POU domain containing octamer binding gene DOID:9003139 Cardiac Fibrosis ISO RGD:1557128 D RGD:9068941 20230128 RGD PMID:31634484|REF_RGD_ID:155882450 12369170 NONO non-POU domain containing octamer binding gene DOID:9006182 Carotid Artery Injuries ameliorates ISO RGD:1557128 D RGD:9068941 20230216 RGD PMID:33626912|REF_RGD_ID:155900763 12369170 NONO non-POU domain containing octamer binding gene DOID:9006385 Congenital Heart Defects, X-Linked ISO RGD:1343083 D RGD:9068941 20230128 RGD DNA:nonsense mutation, frameshift mutation, deletion:CDS, exons:p.R365*, p.N466Kfs*13, (human) PMID:27550220|REF_RGD_ID:155882461 12369170 NONO non-POU domain containing octamer binding gene DOID:9007898 FG Syndrome 1 ISO RGD:1343083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 12369170 NONO non-POU domain containing octamer binding gene DOID:9008086 Developmental Disabilities ISO RGD:1343083 D RGD:9068941 20230216 RGD DNA:missense mutation:CDS:p.P459A (human) PMID:36653413|REF_RGD_ID:155900764 12369170 NONO non-POU domain containing octamer binding gene DOID:9538 multiple myeloma exacerbates ISO RGD:1343083 D RGD:9068941 20230216 RGD mRNA:increased expression: (human) PMID:32410217|REF_RGD_ID:155900765 12369186 GPR82 G protein-coupled receptor 82 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12369186 GPR82 G protein-coupled receptor 82 gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1354119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 12369186 GPR82 G protein-coupled receptor 82 gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1354119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:19165920|PMID:20029458|PMID:21735175|PMID:21954287|PMID:22452838|PMID:22709267|PMID:23901204|PMID:28492532 12369186 GPR82 G protein-coupled receptor 82 gene DOID:10283 prostate cancer ISO RGD:1354119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12369186 GPR82 G protein-coupled receptor 82 gene DOID:12849 autistic disorder ISO RGD:1354119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12369186 GPR82 G protein-coupled receptor 82 gene DOID:630 genetic disease ISO RGD:1354119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12369186 GPR82 G protein-coupled receptor 82 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12369207 LOC100686099 zinc finger protein 84 gene DOID:630 genetic disease ISO RGD:1351858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12369207 LOC100686099 zinc finger protein 84 gene DOID:9256 colorectal cancer ISO RGD:1351858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 12369266 SCRG1 stimulator of chondrogenesis 1 gene DOID:630 genetic disease ISO RGD:68543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12369266 SCRG1 stimulator of chondrogenesis 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12369279 CNIH3 cornichon family AMPA receptor auxiliary protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1343893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12369279 CNIH3 cornichon family AMPA receptor auxiliary protein 3 gene DOID:289 endometriosis ISO RGD:1343893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12369279 CNIH3 cornichon family AMPA receptor auxiliary protein 3 gene DOID:630 genetic disease ISO RGD:1343893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12369279 CNIH3 cornichon family AMPA receptor auxiliary protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12369290 LIM2 lens intrinsic membrane protein 2 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1342579 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:16510302|PMID:23785301|PMID:28492532 12369290 LIM2 lens intrinsic membrane protein 2 gene DOID:0080600 COVID-19 ISO RGD:1342579 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12369290 LIM2 lens intrinsic membrane protein 2 gene DOID:0110263 cataract 19 multiple types ISO RGD:1342579 D RGD:7240710 20180130 OMIM 12369290 LIM2 lens intrinsic membrane protein 2 gene DOID:0110263 cataract 19 multiple types ISO RGD:1342579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 19 multiple types PMID:11917274|PMID:18596884|PMID:21386927|PMID:25741868|PMID:28492532|PMID:32202185|PMID:33078099 12369290 LIM2 lens intrinsic membrane protein 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1342579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12369290 LIM2 lens intrinsic membrane protein 2 gene DOID:630 genetic disease ISO RGD:1342579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12369290 LIM2 lens intrinsic membrane protein 2 gene DOID:83 cataract ISO RGD:1342579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Cortical pulverulent cataract PMID:28492532|PMID:32202185|PMID:33078099 12369290 LIM2 lens intrinsic membrane protein 2 gene DOID:83 cataract onset ISO RGD:1342579 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: p.F105V (human) PMID:11917274|REF_RGD_ID:1600309 12369296 SETD5 SET domain containing 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12369296 SETD5 SET domain containing 5 gene DOID:0060417 3p deletion syndrome ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:21681106 12369296 SETD5 SET domain containing 5 gene DOID:0070053 autosomal dominant intellectual developmental disorder 23 ISO RGD:1605381 D RGD:7240710 20180130 OMIM 12369296 SETD5 SET domain containing 5 gene DOID:0070053 autosomal dominant intellectual developmental disorder 23 ISO RGD:1605381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 23 | ClinVar Annotator: match by term: SETD5-Related Disorder PMID:18414213|PMID:23020937|PMID:24680889|PMID:25138099|PMID:25741868|PMID:26482601|PMID:28191889|PMID:28492532|PMID:28549204|PMID:28881385|PMID:28905509|PMID:28990276|PMID:29484850|PMID:31337854|PMID:31474762|PMID:33004838|PMID:34169511|PMID:34906502 12369296 SETD5 SET domain containing 5 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1605381 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:25741868 12369296 SETD5 SET domain containing 5 gene DOID:0080918 polymicrogyria ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:32581362 12369296 SETD5 SET domain containing 5 gene DOID:10283 prostate cancer severity ISO RGD:1605381 D RGD:9068941 20230112 RGD PMID:30616239|REF_RGD_ID:155804256 12369296 SETD5 SET domain containing 5 gene DOID:1059 intellectual disability ISO RGD:1605381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12369296 SETD5 SET domain containing 5 gene DOID:10907 microcephaly ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12369296 SETD5 SET domain containing 5 gene DOID:12849 autistic disorder ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:28492532 12369296 SETD5 SET domain containing 5 gene DOID:14780 KBG syndrome ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: KBG syndrome 12369296 SETD5 SET domain containing 5 gene DOID:1612 breast cancer ISO RGD:1605381 D RGD:9068941 20230112 RGD PMID:35063407|REF_RGD_ID:155804257 12369296 SETD5 SET domain containing 5 gene DOID:2843 long QT syndrome ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12369296 SETD5 SET domain containing 5 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1605381 D RGD:9068941 20230112 RGD PMID:31981592|REF_RGD_ID:155804254 12369296 SETD5 SET domain containing 5 gene DOID:630 genetic disease ISO RGD:1605381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24680889|PMID:25741868|PMID:26482601|PMID:28492532|PMID:28881385|PMID:34169511 12369296 SETD5 SET domain containing 5 gene DOID:6406 double outlet right ventricle ISO RGD:1321331 D RGD:9068941 20230112 RGD PMID:34050709|REF_RGD_ID:155794379 12369296 SETD5 SET domain containing 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23020937|PMID:24680889|PMID:25138099|PMID:25741868|PMID:28492532|PMID:28990276 12369296 SETD5 SET domain containing 5 gene DOID:9006249 RADIO-TARTAGLIA SYNDROME ISO RGD:1605381 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Radio-Tartaglia syndrome PMID:25741868 12369296 SETD5 SET domain containing 5 gene DOID:9007958 Hyperphosphatasia with Mental Retardation Syndrome 4 ISO RGD:1605381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4 12369296 SETD5 SET domain containing 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12369296 SETD5 SET domain containing 5 gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 12369296 SETD5 SET domain containing 5 gene DOID:9008582 Developmental Disease ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12369296 SETD5 SET domain containing 5 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12369367 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1320089 D RGD:9068941 20220825 MouseDO 12369367 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 gene DOID:0080725 BASAN syndrome ISO RGD:1320088 D RGD:7240710 20190315 OMIM 12369367 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 gene DOID:0080725 BASAN syndrome ISO RGD:1320088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Basan syndrome PMID:20619487|PMID:21820097|PMID:24664640|PMID:25741868|PMID:26932190 12369367 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 gene DOID:0111357 adermatoglyphia ISO RGD:1320088 D RGD:7240710 20180130 OMIM 12369367 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 gene DOID:0111357 adermatoglyphia ISO RGD:1320088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adermatoglyphia PMID:10631162|PMID:20619487|PMID:21820097|PMID:24909267|PMID:25741868|PMID:26932190|PMID:29409814 12369367 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 gene DOID:630 genetic disease ISO RGD:1320088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12369367 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 gene DOID:9001225 Sclerotylosis ISO RGD:1320088 D RGD:7240710 20190424 OMIM 12369367 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 gene DOID:9001225 Sclerotylosis ISO RGD:1320088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoderma with scleroatrophy of the extremities PMID:10631162|PMID:24909267|PMID:25741868|PMID:29409814|PMID:4298032|PMID:8731679 12369367 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320088 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12369367 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:30057029 12369412 MIR103-1 microRNA mir-103-1 gene DOID:0111951 immunodeficiency 40 ISO RGD:1351023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 12369412 MIR103-1 microRNA mir-103-1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1608227 D RGD:9068941 20210730 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12369415 MIR135B microRNA mir-135b gene DOID:11394 adult respiratory distress syndrome ISO RGD:1349548 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12369415 MIR135B microRNA mir-135b gene DOID:12849 autistic disorder ISO RGD:1349548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12369415 MIR135B microRNA mir-135b gene DOID:9005968 Neuralgia ISO RGD:1349548 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31432094 12369418 MIR599 microRNA mir-599 gene DOID:0111590 Cohen syndrome ISO RGD:1603077 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:15141358|PMID:16648375|PMID:20461111|PMID:28492532 12369421 MIR208A microRNA mir-208a gene DOID:0050700 cardiomyopathy ISO RGD:1607682 D RGD:9068941 20230323 RGD PMID:26029872|REF_RGD_ID:158014899 12369421 MIR208A microRNA mir-208a gene DOID:0060439 lysinuric protein intolerance ISO RGD:1346072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12369421 MIR208A microRNA mir-208a gene DOID:0110320 hypertrophic cardiomyopathy 14 ISO RGD:1346072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 PMID:28492532 12369421 MIR208A microRNA mir-208a gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1346072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12369421 MIR208A microRNA mir-208a gene DOID:3393 coronary artery disease ISO RGD:1346072 D RGD:9068941 20230202 RGD miRNA:decreased expression:blood plasma (human) PMID:25728840|REF_RGD_ID:11056497 12369421 MIR208A microRNA mir-208a gene DOID:5844 myocardial infarction ISO RGD:7489029 D RGD:9068941 20230330 RGD miRNA:increased expression:heart PMID:26861724|REF_RGD_ID:242905213 12369421 MIR208A microRNA mir-208a gene DOID:5844 myocardial infarction treatment ISO RGD:1607682 D RGD:9068941 20230323 RGD PMID:26688617|REF_RGD_ID:11536862 12369421 MIR208A microRNA mir-208a gene DOID:9000265 Specific Granule Deficiency ISO RGD:1346072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 12369421 MIR208A microRNA mir-208a gene DOID:9000740 ST Elevation Myocardial Infarction severity ISO RGD:7489029 D RGD:9068941 20230323 RGD miRNA:increased expression:blood PMID:32458401|REF_RGD_ID:213230165 12369421 MIR208A microRNA mir-208a gene DOID:9002371 Cardiotoxicity ISO RGD:1346072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26454886 12369421 MIR208A microRNA mir-208a gene DOID:9003936 Cardiomegaly treatment ISO RGD:7489029 D RGD:9068941 20230323 RGD PMID:33605072|REF_RGD_ID:213230164 12369421 MIR208A microRNA mir-208a gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1346072 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12369421 MIR208A microRNA mir-208a gene DOID:9005968 Neuralgia ISO RGD:1346072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31432094 12369498 PRPH peripherin gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:733911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:25741868 12369498 PRPH peripherin gene DOID:0060193 amyotrophic lateral sclerosis type 1 susceptibility ISO RGD:733911 D RGD:7240710 20230505 OMIM 12369498 PRPH peripherin gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:733911 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 PMID:25741868 12369498 PRPH peripherin gene DOID:332 amyotrophic lateral sclerosis ISO RGD:733911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to PMID:15322088|PMID:15446584|PMID:25741868|PMID:28492532 12369498 PRPH peripherin gene DOID:630 genetic disease ISO RGD:733911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12369511 DDHD1 DDHD domain containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318429 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 12369511 DDHD1 DDHD domain containing 1 gene DOID:0110779 hereditary spastic paraplegia 28 ISO RGD:1318429 D RGD:7240710 20180130 OMIM 12369511 DDHD1 DDHD domain containing 1 gene DOID:0110779 hereditary spastic paraplegia 28 ISO RGD:1318429 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 28 PMID:15786464|PMID:17576681|PMID:23176821|PMID:24989667|PMID:25741868|PMID:26944165|PMID:27216551|PMID:27999540|PMID:28492532|PMID:28818478|PMID:9536098 12369511 DDHD1 DDHD domain containing 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1318429 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:23176821|PMID:24989667|PMID:25741868|PMID:26944165|PMID:27216551|PMID:28492532 12369511 DDHD1 DDHD domain containing 1 gene DOID:630 genetic disease ISO RGD:1318429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12369511 DDHD1 DDHD domain containing 1 gene DOID:9007428 Muscle Spasticity ISO RGD:1318429 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spasticity 12369538 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:0050771 pheochromocytoma ISO RGD:732223 D RGD:9068941 20200609 RGD PMID:25879199|REF_RGD_ID:13792787 12369538 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12369538 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:0060810 syndromic X-linked intellectual disability type 10 ISO RGD:732223 D RGD:7240710 20180130 OMIM 12369538 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:0060810 syndromic X-linked intellectual disability type 10 ISO RGD:732223 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHORIOATHETOSIS WITH MENTAL RETARDATION AND ABNORMAL BEHAVIOR | ClinVar Annotator: match by term: HSD10 mitochondrial disease | ClinVar Annotator: match by term: HSD17B10-Related Disorder PMID:10521307|PMID:11102558|PMID:12112118|PMID:12555940|PMID:12696021|PMID:12872843|PMID:15059617|PMID:15342248|PMID:16148061|PMID:16176262|PMID:17236142|PMID:17618155|PMID:18996107|PMID:20077426|PMID:22132097|PMID:23266819|PMID:24549042|PMID:25741868|PMID:26950678|PMID:28333917|PMID:28492532|PMID:31654490|PMID:34765396 12369538 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:732223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 12369538 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:0080600 COVID-19 ISO RGD:732223 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12369538 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:732223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 PMID:26059843|PMID:28492532 12369538 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:10652 Alzheimer's disease ISO RGD:1332361 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, neuron, mitochondria PMID:11869808|REF_RGD_ID:632866 12369538 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:10652 Alzheimer's disease ISO RGD:732223 D RGD:9068941 20200609 RGD protein:increased expression:brain (human) PMID:9338779|REF_RGD_ID:1358426 12369538 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:10652 Alzheimer's disease treatment ISO RGD:1332361 D RGD:9068941 20200609 RGD PMID:21307267|REF_RGD_ID:13792781 12369538 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:12849 autistic disorder ISO RGD:732223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12369538 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:14227 azoospermia ISO RGD:1332361 D RGD:9068941 20200609 RGD mRNA:increased expression:testis PMID:9851691|REF_RGD_ID:13792783 12369538 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:3347 osteosarcoma treatment ISO RGD:732223 D RGD:9068941 20200609 RGD PMID:19449377|REF_RGD_ID:13792789 12369538 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:3910 lung adenocarcinoma ISO RGD:732223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 12369538 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:607 paraplegia ISO RGD:732223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12369538 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:630 genetic disease ISO RGD:732223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15342248|PMID:25741868|PMID:28492532 12369538 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:9004603 Atkin Syndrome ISO RGD:732223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome PMID:26059843|PMID:28492532 12369548 IGBP1 immunoglobulin binding protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12369548 IGBP1 immunoglobulin binding protein 1 gene DOID:0060816 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome ISO RGD:732872 D RGD:7240710 20180130 OMIM 12369548 IGBP1 immunoglobulin binding protein 1 gene DOID:0060816 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome ISO RGD:732872 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome PMID:25741868 12369548 IGBP1 immunoglobulin binding protein 1 gene DOID:12849 autistic disorder ISO RGD:732872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12369548 IGBP1 immunoglobulin binding protein 1 gene DOID:630 genetic disease ISO RGD:732872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12369548 IGBP1 immunoglobulin binding protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21339737 12369548 IGBP1 immunoglobulin binding protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21339737 12369548 IGBP1 immunoglobulin binding protein 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21339737 12369548 IGBP1 immunoglobulin binding protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21339737 12369559 UBE3D ubiquitin protein ligase E3D gene DOID:0111953 immunodeficiency 23 ISO RGD:1315581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:24931394 12369559 UBE3D ubiquitin protein ligase E3D gene DOID:630 genetic disease ISO RGD:1315581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12369577 UBE2O ubiquitin conjugating enzyme E2 O gene DOID:630 genetic disease ISO RGD:1606786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12369599 DNM2 dynamin 2 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:730970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate PMID:28492532 12369599 DNM2 dynamin 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:730970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12369599 DNM2 dynamin 2 gene DOID:0080089 tubular aggregate myopathy 1 ISO RGD:730970 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT PMID:16227997|PMID:18414213|PMID:20529869|PMID:20858595|PMID:22096584|PMID:22369075|PMID:22396310|PMID:24088041|PMID:25741868|PMID:26633545|PMID:2734399|PMID:27343996|PMID:28492532 12369599 DNM2 dynamin 2 gene DOID:0080307 myofibrillar myopathy ISO RGD:730970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy PMID:25741868|PMID:28492532 12369599 DNM2 dynamin 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:730970 D RGD:7240710 20180130 OMIM 12369599 DNM2 dynamin 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:730970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2M | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate B, with neutropenia PMID:15731758|PMID:16199547|PMID:16227997|PMID:17008356|PMID:17576681|PMID:17636067|PMID:17932957|PMID:18414213|PMID:18560793|PMID:19122038|PMID:19130742|PMID:19502294|PMID:19623537|PMID:19932619|PMID:19932620|PMID:20227276|PMID:20529869|PMID:20700106|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22091729|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22451505|PMID:22613877|PMID:23338057|PMID:23394783|PMID:23806086|PMID:24016602|PMID:24033266|PMID:24088041|PMID:24135484|PMID:24215330|PMID:24366529|PMID:24465259|PMID:24728327|PMID:25214167|PMID:25259927|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25640679|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26275793|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26842864|PMID:26908122|PMID:27328317|PMID:2734399|PMID:27343996|PMID:27549087|PMID:27698851|PMID:27854218|PMID:28166811|PMID:28357347|PMID:28357410|PMID:28492532|PMID:28676641|PMID:28708278|PMID:28971531|PMID:29653220|PMID:30103202|PMID:30146126|PMID:30208955|PMID:30373780|PMID:32528171|PMID:32860008|PMID:33333461|PMID:34008892|PMID:9536098 12369599 DNM2 dynamin 2 gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:730970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:16199547|PMID:16227997|PMID:17008356|PMID:17932957|PMID:18414213|PMID:19130742|PMID:19623537|PMID:19932619|PMID:20227276|PMID:20529869|PMID:20700106|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23374900|PMID:23394783|PMID:24016602|PMID:24033266|PMID:24088041|PMID:24135484|PMID:24366529|PMID:24465259|PMID:24728327|PMID:25214167|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26633545|PMID:26842864|PMID:26908122|PMID:2734399|PMID:27343996|PMID:27698851|PMID:27854218|PMID:28492532|PMID:28676641|PMID:30103202|PMID:32860008|PMID:34008892 12369599 DNM2 dynamin 2 gene DOID:0111223 centronuclear myopathy 1 ISO RGD:730970 D RGD:7240710 20180130 OMIM 12369599 DNM2 dynamin 2 gene DOID:0111223 centronuclear myopathy 1 ISO RGD:730970 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, centronuclear, 1 PMID:16227997|PMID:18414213|PMID:20529869|PMID:20858595|PMID:22096584|PMID:22369075|PMID:22396310|PMID:24088041|PMID:25741868|PMID:26633545|PMID:2734399|PMID:27343996|PMID:28492532 12369599 DNM2 dynamin 2 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:730970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:17932957|PMID:18414213|PMID:20227276|PMID:20700106|PMID:22396310|PMID:23338057|PMID:24135484|PMID:25741868|PMID:25957634|PMID:26199319|PMID:28492532|PMID:32860008 12369599 DNM2 dynamin 2 gene DOID:0111254 glutaric acidemia I ISO RGD:730970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12369599 DNM2 dynamin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:730970 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:15731758|PMID:16227997|PMID:17636067|PMID:18394888|PMID:18414213|PMID:20529869|PMID:20817456|PMID:21762456|PMID:22091729|PMID:22613877|PMID:24016602|PMID:25025039|PMID:25492887|PMID:25501959|PMID:25741868|PMID:27328317|PMID:28492532|PMID:28676641 12369599 DNM2 dynamin 2 gene DOID:11252 microcytic anemia ISO RGD:730971 D RGD:9068941 20221117 MouseDO OMIM:206200 12369599 DNM2 dynamin 2 gene DOID:13810 familial hypercholesterolemia ISO RGD:730970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:28492532 12369599 DNM2 dynamin 2 gene DOID:14717 centronuclear myopathy ISO RGD:730970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Centronuclear myopathy PMID:16227997|PMID:17008356|PMID:17932957|PMID:18414213|PMID:19130742|PMID:19932620|PMID:20227276|PMID:20529869|PMID:20700106|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23394783|PMID:24016602|PMID:24088041|PMID:24135484|PMID:24366529|PMID:24465259|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26633545|PMID:26842864|PMID:26908122|PMID:2734399|PMID:27343996|PMID:28492532|PMID:28676641|PMID:32860008 12369599 DNM2 dynamin 2 gene DOID:2975 cystic kidney disease ISO RGD:730971 D RGD:9068941 20220825 MouseDO 12369599 DNM2 dynamin 2 gene DOID:3413 alpha-mannosidosis ISO RGD:730970 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12369599 DNM2 dynamin 2 gene DOID:422 congenital structural myopathy ISO RGD:730970 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:16227997|PMID:17008356|PMID:17932957|PMID:18414213|PMID:19130742|PMID:20227276|PMID:20529869|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23394783|PMID:24016602|PMID:24033266|PMID:24088041|PMID:24465259|PMID:24728327|PMID:25214167|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26633545|PMID:26842864|PMID:26908122|PMID:2734399|PMID:27343996|PMID:27698851|PMID:27854218|PMID:28492532|PMID:28676641|PMID:30103202|PMID:32860008|PMID:34008892 12369599 DNM2 dynamin 2 gene DOID:422 congenital structural myopathy ISO RGD:730970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:16199547|PMID:16227997|PMID:17008356|PMID:17932957|PMID:18414213|PMID:19130742|PMID:19623537|PMID:19932619|PMID:20227276|PMID:20529869|PMID:20700106|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23374900|PMID:23394783|PMID:24016602|PMID:24033266|PMID:24088041|PMID:24135484|PMID:24366529|PMID:24465259|PMID:24728327|PMID:25214167|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26633545|PMID:26842864|PMID:26908122|PMID:2734399|PMID:27343996|PMID:27698851|PMID:27854218|PMID:28492532|PMID:28676641|PMID:30103202|PMID:32860008|PMID:34008892 12369599 DNM2 dynamin 2 gene DOID:423 myopathy ISO RGD:730970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:16227997|PMID:17008356|PMID:18414213|PMID:19130742|PMID:20227276|PMID:20529869|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23394783|PMID:24465259|PMID:25262827|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:28492532 12369599 DNM2 dynamin 2 gene DOID:574 peripheral nervous system disease ISO RGD:730970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:18414213|PMID:24728327|PMID:26467025|PMID:27854218|PMID:28492532 12369599 DNM2 dynamin 2 gene DOID:630 genetic disease ISO RGD:730970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:22730194|PMID:24215330|PMID:24728327|PMID:25214167|PMID:25501959|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26517984|PMID:27698851|PMID:27854218|PMID:28492532|PMID:28708278|PMID:30103202|PMID:30146126|PMID:33333461|PMID:9536098 12369599 DNM2 dynamin 2 gene DOID:870 neuropathy ISO RGD:730970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:18414213|PMID:24728327|PMID:26467025|PMID:27854218|PMID:28492532 12369599 DNM2 dynamin 2 gene DOID:9004426 Lethal Congenital Contracture Syndrome 5 ISO RGD:730970 D RGD:7240710 20180130 OMIM 12369599 DNM2 dynamin 2 gene DOID:9004426 Lethal Congenital Contracture Syndrome 5 ISO RGD:730970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 5 PMID:23092955|PMID:25741868 12369599 DNM2 dynamin 2 gene DOID:9008014 Charcot-Marie-Tooth Disease, Dominant Intermediate 1 ISO RGD:730970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate 1 PMID:16227997|PMID:18414213|PMID:18560793|PMID:19502294|PMID:20529869|PMID:20858595|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22451505|PMID:23806086|PMID:24088041|PMID:25259927|PMID:25741868|PMID:26467025|PMID:26633545|PMID:2734399|PMID:27343996|PMID:28357347|PMID:28492532 12369599 DNM2 dynamin 2 gene DOID:9277 primary cerebellar degeneration ISO RGD:730970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorimotor neuropathy PMID:17636067|PMID:25741868|PMID:28492532|PMID:30373780 12369644 SLC44A2 solute carrier family 44 member 2 gene DOID:630 genetic disease ISO RGD:1601745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12369644 SLC44A2 solute carrier family 44 member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1601745 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12369676 APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:736126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12369676 APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:736126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12369676 APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:736126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12369676 APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:736126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12369676 APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:0111621 Temtamy syndrome ISO RGD:736126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12369676 APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:1168 familial hyperlipidemia ISO RGD:2133 D RGD:9068941 20200609 RGD PMID:11116209|REF_RGD_ID:1626277 12369676 APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:219 colon cancer ISO RGD:2133 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:colon PMID:12020819|REF_RGD_ID:625559 12369676 APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:630 genetic disease ISO RGD:736126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12369676 APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736126 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12369676 APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:736126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12369676 APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:916 liver benign neoplasm ISO RGD:2133 D RGD:9068941 20200609 RGD PMID:9633945|REF_RGD_ID:10755510 12369676 APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:9970 obesity ISO RGD:2133 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:8781289|REF_RGD_ID:1626278 12369689 TTLL4 tubulin tyrosine ligase like 4 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1315312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12369689 TTLL4 tubulin tyrosine ligase like 4 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1315312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12369689 TTLL4 tubulin tyrosine ligase like 4 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1315312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12369689 TTLL4 tubulin tyrosine ligase like 4 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1315312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12369689 TTLL4 tubulin tyrosine ligase like 4 gene DOID:630 genetic disease ISO RGD:1315312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12369689 TTLL4 tubulin tyrosine ligase like 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12369716 DCP2 decapping mRNA 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349747 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:11257105|PMID:14672538|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12369716 DCP2 decapping mRNA 2 gene DOID:630 genetic disease ISO RGD:1349747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12369716 DCP2 decapping mRNA 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12369716 DCP2 decapping mRNA 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12369716 DCP2 decapping mRNA 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349747 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12369737 PROX1 prospero homeobox 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1315764 D RGD:9068941 20220825 MouseDO 12369737 PROX1 prospero homeobox 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1315763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12369737 PROX1 prospero homeobox 1 gene DOID:1824 status epilepticus ISO RGD:1306890 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus hilus PMID:17042797|REF_RGD_ID:5133273 12369737 PROX1 prospero homeobox 1 gene DOID:630 genetic disease ISO RGD:1315763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12369737 PROX1 prospero homeobox 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17415710 12369737 PROX1 prospero homeobox 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12369737 PROX1 prospero homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1315763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20081858 12369737 PROX1 prospero homeobox 1 gene DOID:9970 obesity ISO RGD:1315764 D RGD:9068941 20220825 MouseDO OMIM:601665 12369754 SERPINA6 serpin family A member 6 gene DOID:0080054 achondrogenesis type IA ISO RGD:1353758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12369754 SERPINA6 serpin family A member 6 gene DOID:0081063 DICER1 syndrome ISO RGD:1353758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 12369754 SERPINA6 serpin family A member 6 gene DOID:0090030 corticosteroid-binding globulin deficiency ISO RGD:1353758 D RGD:7240710 20180130 OMIM 12369754 SERPINA6 serpin family A member 6 gene DOID:0090030 corticosteroid-binding globulin deficiency ISO RGD:1353758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corticosteroid-binding globulin deficiency PMID:10634411|PMID:11502797|PMID:12780753|PMID:17245537|PMID:25741868|PMID:7061486|PMID:8212073 12369754 SERPINA6 serpin family A member 6 gene DOID:5082 liver cirrhosis ISO RGD:1353758 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12369754 SERPINA6 serpin family A member 6 gene DOID:630 genetic disease ISO RGD:1353758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12369754 SERPINA6 serpin family A member 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353758 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12369754 SERPINA6 serpin family A member 6 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353758 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12369754 SERPINA6 serpin family A member 6 gene DOID:9452 fatty liver disease ISO RGD:1353758 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12369785 SMDT1 single-pass membrane protein with aspartate rich tail 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1602445 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12369785 SMDT1 single-pass membrane protein with aspartate rich tail 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1602445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 12369785 SMDT1 single-pass membrane protein with aspartate rich tail 1 gene DOID:1059 intellectual disability ISO RGD:1602445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12369785 SMDT1 single-pass membrane protein with aspartate rich tail 1 gene DOID:630 genetic disease ISO RGD:1602445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12369785 SMDT1 single-pass membrane protein with aspartate rich tail 1 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1602445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 12369792 ST8SIA5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 gene DOID:0060356 Vici syndrome ISO RGD:1349184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 12369792 ST8SIA5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 gene DOID:1059 intellectual disability ISO RGD:1349184 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12369792 ST8SIA5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 gene DOID:630 genetic disease ISO RGD:1349184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12369792 ST8SIA5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1349184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 12369803 LOC100682772 leucine-rich repeat-containing protein 37A3-like gene DOID:0050880 Koolen de Vries syndrome ISO RGD:1605100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Koolen-de Vries syndrome PMID:25741868 12369803 LOC100682772 leucine-rich repeat-containing protein 37A3-like gene DOID:630 genetic disease ISO RGD:1605100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12369803 LOC100682772 leucine-rich repeat-containing protein 37A3-like gene DOID:9008939 Breast Neoplasms ISO RGD:1605100 D RGD:9068941 20210205 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12369821 PDZRN4 PDZ domain containing ring finger 4 gene DOID:10325 silicosis ISO RGD:1318876 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24986923 12369821 PDZRN4 PDZ domain containing ring finger 4 gene DOID:630 genetic disease ISO RGD:1318876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12369833 DHRS13 dehydrogenase/reductase 13 gene DOID:630 genetic disease ISO RGD:735666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12369854 MIR9-3 microRNA mir-9-3 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1345298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 12369854 MIR9-3 microRNA mir-9-3 gene DOID:2717 Bloom syndrome ISO RGD:1345298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12369854 MIR9-3 microRNA mir-9-3 gene DOID:3907 lung squamous cell carcinoma exacerbates ISO RGD:1345298 D RGD:9068941 20220901 RGD DNA:Hypermethylation PMID:22282464|REF_RGD_ID:153344598 12369854 MIR9-3 microRNA mir-9-3 gene DOID:9256 colorectal cancer ISO RGD:1345298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12369917 FCAR Fc fragment of IgA receptor gene DOID:0050855 renal fibrosis ISO RGD:1344251 D RGD:9068941 20200609 RGD PMID:18250479|REF_RGD_ID:7242172 12369917 FCAR Fc fragment of IgA receptor gene DOID:12132 granulomatosis with polyangiitis ISO RGD:1344251 D RGD:9068941 20200609 RGD PMID:22147912|REF_RGD_ID:7242064 12369917 FCAR Fc fragment of IgA receptor gene DOID:2986 IgA glomerulonephritis ISO RGD:1344251 D RGD:9068941 20200609 RGD PMID:21985370|PMID:22451718|REF_RGD_ID:7242063|REF_RGD_ID:7242167 12369917 FCAR Fc fragment of IgA receptor gene DOID:630 genetic disease ISO RGD:1344251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12369922 CUTA cutA divalent cation tolerance homolog gene DOID:0050553 JMP syndrome ISO RGD:1346513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12369922 CUTA cutA divalent cation tolerance homolog gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1346513 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 12369922 CUTA cutA divalent cation tolerance homolog gene DOID:630 genetic disease ISO RGD:1346513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12369947 LOC476070 mitotic arrest deficient 2 like 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1322050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12369947 LOC476070 mitotic arrest deficient 2 like 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1322050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18691855 12369947 LOC476070 mitotic arrest deficient 2 like 1 gene DOID:630 genetic disease ISO RGD:1322050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12369947 LOC476070 mitotic arrest deficient 2 like 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1322050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12369947 LOC476070 mitotic arrest deficient 2 like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12369956 OAZ1 ornithine decarboxylase antizyme 1 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:733111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12369956 OAZ1 ornithine decarboxylase antizyme 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12369963 BORA BORA aurora kinase A activator gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1605625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12369963 BORA BORA aurora kinase A activator gene DOID:630 genetic disease ISO RGD:1605625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12369979 CCDC7 coiled-coil domain containing 7 gene DOID:630 genetic disease ISO RGD:1346795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370028 LARP4B La ribonucleoprotein 4B gene DOID:2661 myoepithelioma ISO RGD:1321780 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12370028 LARP4B La ribonucleoprotein 4B gene DOID:630 genetic disease ISO RGD:1321780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370028 LARP4B La ribonucleoprotein 4B gene DOID:9005539 Familial Prostate Cancer ISO RGD:1321780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:734345 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:0111698 proprotein convertase 1/3 deficiency ISO RGD:734345 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Obesity due to prohormone convertase I deficiency | ClinVar Annotator: match by term: Proprotein convertase 1/3 deficiency PMID:14617756|PMID:17595246|PMID:22210313|PMID:23383060|PMID:23562752|PMID:24041679|PMID:24135795|PMID:24932808|PMID:25272002|PMID:25741868|PMID:26786350|PMID:27187081|PMID:28377240|PMID:28492532|PMID:30383237|PMID:9207799 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:0111698 proprotein convertase 1/3 deficiency susceptibility ISO RGD:734345 D RGD:7240710 20230517 OMIM 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:10603 glucose intolerance ISO RGD:734346 D RGD:9068941 20200609 RGD associated with Hyperinsulinemia, Aniridia; mRNA, protein:decreased expression:pancreatic islet (mouse) PMID:19034419|REF_RGD_ID:2308929 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:11832 visual epilepsy ISO RGD:3272 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus granule cell layer (rat) PMID:9015327|REF_RGD_ID:2308918 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:1459 hypothyroidism ISO RGD:3272 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus, hippocampus, cortex (rat) PMID:15291740|REF_RGD_ID:2308889 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:1459 hypothyroidism ISO RGD:3272 D RGD:9068941 20200609 RGD protein:increased expression:paraventricular nucleus, lateral hypothalamic nucleus (rat) PMID:16926379|REF_RGD_ID:1600414 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:1799 islet cell tumor ISO RGD:3272 D RGD:9068941 20200609 RGD protein:increased expression:insulinoma (rat) PMID:7925129|REF_RGD_ID:2308920 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:28 endocrine system disease ISO RGD:734346 D RGD:9068941 20220825 MouseDO 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:4195 hyperglycemia ISO RGD:3272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein, mRNA:altered expression:pancreatic islet (rat) PMID:7883951|REF_RGD_ID:2308919 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:4195 hyperglycemia ISO RGD:3272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:hepatocyte (rat) PMID:17131142|REF_RGD_ID:2308899 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:630 genetic disease ISO RGD:734345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:7998 hyperthyroidism ISO RGD:3272 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus, hippocampus, cortex (rat) PMID:15291740|REF_RGD_ID:2308889 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:7998 hyperthyroidism ISO RGD:3272 D RGD:9068941 20200609 RGD protein:decreased expression:paraventricular nucleus, median eminence (rat) PMID:16497799|REF_RGD_ID:1601276 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9005372 Inflammation ISO RGD:3272 D RGD:9068941 20200609 RGD protein:increased expression:paw, leukocyte (rat) PMID:14630714|REF_RGD_ID:2308900 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3272 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spleen, spleen white pulp (rat) PMID:11730986|REF_RGD_ID:2308905 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734346 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spleen (mouse) PMID:11730986|REF_RGD_ID:2308905 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734346 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic alpha cell (mouse) PMID:17698597|REF_RGD_ID:2308931 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9005930 Endotoxemia ISO RGD:3272 D RGD:9068941 20200609 RGD PMID:16337011|REF_RGD_ID:6483567 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734345 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9007633 Body Weight ISO RGD:734345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9007661 Dwarfism ISO RGD:734346 D RGD:9068941 20200609 RGD PMID:12145326|REF_RGD_ID:737721 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9007993 Dehydration ISO RGD:3272 D RGD:9068941 20200609 RGD associated with Protein-Energy Malnutrition; protein:increased expression:pituitary (rat) PMID:12411741|REF_RGD_ID:2308904 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3272 D RGD:9068941 20200609 RGD PMID:17630003|REF_RGD_ID:2308898 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3272 D RGD:9068941 20200609 RGD protein:altered expression:pancreatic islet (rat) PMID:12475375|REF_RGD_ID:2298715 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734346 D RGD:9068941 20200609 RGD protein:decreased expression:pancreatic islet (mouse) PMID:18448419|REF_RGD_ID:2308932 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734346 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic alpha cell (mouse) PMID:18941442|REF_RGD_ID:2308930 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:734345 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.R53Q, p.Q638E (human) PMID:8666140|REF_RGD_ID:2308935 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:734346 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic islet (mouse) PMID:16938896|REF_RGD_ID:2308934 12370052 PCSK1 proprotein convertase subtilisin/kexin type 1 gene DOID:9970 obesity ISO RGD:734345 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Body mass index quantitative trait locus 12 | ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity PMID:18604207|PMID:22210313|PMID:23383060|PMID:25741868|PMID:28492532 12370078 H3-3A H3.3 histone A gene DOID:1540 parathyroid carcinoma ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12370078 H3-3A H3.3 histone A gene DOID:3068 glioblastoma ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:26619011|PMID:26822237 12370078 H3-3A H3.3 histone A gene DOID:3070 high grade glioma ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:26619011 12370078 H3-3A H3.3 histone A gene DOID:3948 adrenocortical carcinoma ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma PMID:26619011 12370078 H3-3A H3.3 histone A gene DOID:4305 bone giant cell tumor ISO RGD:1317993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24162739 12370078 H3-3A H3.3 histone A gene DOID:630 genetic disease ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21636898|PMID:24493739|PMID:25741868|PMID:26139371|PMID:26159857|PMID:33268356|PMID:34876591 12370078 H3-3A H3.3 histone A gene DOID:9001391 Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 ISO RGD:1317993 D RGD:7240710 20220216 OMIM 12370078 H3-3A H3.3 histone A gene DOID:9001391 Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 ISO RGD:1317993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bryant-Li-Bhoj neurodevelopmental syndrome 1 PMID:21636898|PMID:24493739|PMID:25741868|PMID:26139371|PMID:26159857|PMID:28492532|PMID:33268356|PMID:34876591 12370078 H3-3A H3.3 histone A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12370078 H3-3A H3.3 histone A gene DOID:9007502 Brain Neoplasms ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of brain PMID:26619011 12370078 H3-3A H3.3 histone A gene DOID:9007653 Multiple Abnormalities ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: H3F3A-related condition PMID:24493739|PMID:25741868|PMID:26139371|PMID:26159857|PMID:33268356 12370078 H3-3A H3.3 histone A gene DOID:9008086 Developmental Disabilities ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:21636898|PMID:25741868|PMID:33268356|PMID:34876591 12370078 H3-3A H3.3 histone A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12370086 MVB12B multivesicular body subunit 12B gene DOID:630 genetic disease ISO RGD:1320196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370086 MVB12B multivesicular body subunit 12B gene DOID:9467 nail-patella syndrome ISO RGD:1320196 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Nail-patella syndrome PMID:18414507 12370107 CRADD CASP2 and RIPK1 domain containing adaptor with death domain gene DOID:0081200 autosomal recessive intellectual developmental disorder 34 ISO RGD:1322237 D RGD:7240710 20180130 OMIM 12370107 CRADD CASP2 and RIPK1 domain containing adaptor with death domain gene DOID:0081200 autosomal recessive intellectual developmental disorder 34 ISO RGD:1322237 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY PMID:22279524|PMID:25741868|PMID:27773430|PMID:30914828 12370107 CRADD CASP2 and RIPK1 domain containing adaptor with death domain gene DOID:1059 intellectual disability ISO RGD:1322237 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:27773430|PMID:30167849|PMID:30914828 12370107 CRADD CASP2 and RIPK1 domain containing adaptor with death domain gene DOID:1826 epilepsy ISO RGD:1322237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12370107 CRADD CASP2 and RIPK1 domain containing adaptor with death domain gene DOID:4450 renal cell carcinoma ISO RGD:1322237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20208132 12370107 CRADD CASP2 and RIPK1 domain containing adaptor with death domain gene DOID:630 genetic disease ISO RGD:1322237 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12370107 CRADD CASP2 and RIPK1 domain containing adaptor with death domain gene DOID:9008086 Developmental Disabilities ISO RGD:1322237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12370120 RSBN1L round spermatid basic protein 1 like gene DOID:0080600 COVID-19 ISO RGD:1351057 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12370120 RSBN1L round spermatid basic protein 1 like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12370120 RSBN1L round spermatid basic protein 1 like gene DOID:630 genetic disease ISO RGD:1351057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370120 RSBN1L round spermatid basic protein 1 like gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1351057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12370131 CCDC73 coiled-coil domain containing 73 gene DOID:1059 intellectual disability ISO RGD:1601781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12370131 CCDC73 coiled-coil domain containing 73 gene DOID:630 genetic disease ISO RGD:1601781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370161 INS insulin gene DOID:0014667 disease of metabolism ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19131468 12370161 INS insulin gene DOID:0014667 disease of metabolism ISO RGD:731056 D RGD:9068941 20210820 RGD associated with human immunodeficiency virus infectious disease;protein:increased expression:blood serum (human) PMID:22151886|REF_RGD_ID:150340610 12370161 INS insulin gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:731056 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:11921414|PMID:12610512|PMID:18162506|PMID:18171712|PMID:20007936|PMID:22572540|PMID:24275212|PMID:24411943|PMID:25542748|PMID:25741868|PMID:25781672|PMID:26101329|PMID:26467025|PMID:27634015|PMID:28492532|PMID:30455893|PMID:30456822|PMID:33206859|PMID:35083481 12370161 INS insulin gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12370161 INS insulin gene DOID:0050835 generalized dystonia ISO RGD:731056 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Generalized dystonia PMID:22572540|PMID:24275212|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30455893|PMID:35083481 12370161 INS insulin gene DOID:0060319 cardiac arrest ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17449947 12370161 INS insulin gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:731056 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive PMID:11921414|PMID:12610512|PMID:18162506|PMID:18171712|PMID:22572540|PMID:24275212|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30455893|PMID:30456822|PMID:33206859|PMID:35083481 12370161 INS insulin gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:731056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:11921414|PMID:17047922|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18414213|PMID:18451997|PMID:18981553|PMID:19801494|PMID:19952343|PMID:20034470|PMID:20133622|PMID:20301620|PMID:20308425|PMID:20659334|PMID:20938745|PMID:20948967|PMID:21566073|PMID:21592955|PMID:21723250|PMID:22235272|PMID:22957706|PMID:23416061|PMID:23444373|PMID:24622368|PMID:25542748|PMID:25721872|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30191644|PMID:30414308|PMID:34593315 12370161 INS insulin gene DOID:0080000 muscular disease ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:496411 12370161 INS insulin gene DOID:0080074 neural tube defect ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19446573 12370161 INS insulin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:731056 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32613381 12370161 INS insulin gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18948358 12370161 INS insulin gene DOID:0080773 delta beta-thalassemia ISO RGD:731056 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12370161 INS insulin gene DOID:0110741 type 1 diabetes mellitus 2 ISO RGD:731056 D RGD:7240710 20180130 OMIM 12370161 INS insulin gene DOID:0110741 type 1 diabetes mellitus 2 ISO RGD:731056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 PMID:11921414|PMID:17047922|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18192540|PMID:18414213|PMID:20007936|PMID:20133622|PMID:20301620|PMID:20938745|PMID:20948967|PMID:21592955|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30456822|PMID:34593315 12370161 INS insulin gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:731056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822 12370161 INS insulin gene DOID:0111108 maturity-onset diabetes of the young type 10 ISO RGD:731056 D RGD:7240710 20180130 OMIM 12370161 INS insulin gene DOID:0111108 maturity-onset diabetes of the young type 10 ISO RGD:731056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 10 PMID:11921414|PMID:12610512|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18192540|PMID:20007936|PMID:20226046|PMID:20948967|PMID:24411943|PMID:25423173|PMID:25542748|PMID:25741868|PMID:25781672|PMID:26101329|PMID:26467025|PMID:27634015|PMID:28478482|PMID:28492532|PMID:30456822|PMID:32916194|PMID:33206859 12370161 INS insulin gene DOID:0111969 immunodeficiency 39 ISO RGD:731056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12370161 INS insulin gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12370161 INS insulin gene DOID:10283 prostate cancer disease_progression ISO RGD:731056 D RGD:9068941 20200609 RGD PMID:27599544|REF_RGD_ID:13504777 12370161 INS insulin gene DOID:10603 glucose intolerance ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21779873 12370161 INS insulin gene DOID:10652 Alzheimer's disease ISO RGD:2916 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex PMID:17448147|REF_RGD_ID:2298713 12370161 INS insulin gene DOID:10652 Alzheimer's disease ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15750215|PMID:9443474 12370161 INS insulin gene DOID:1074 kidney failure ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8606734|PMID:9861226 12370161 INS insulin gene DOID:10763 hypertension ISO RGD:10812 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:29211853 12370161 INS insulin gene DOID:10763 hypertension ISO RGD:2916 D RGD:9068941 20200609 RGD PMID:9095092|REF_RGD_ID:6902896 12370161 INS insulin gene DOID:10763 hypertension ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18360027|PMID:9719048 12370161 INS insulin gene DOID:11612 polycystic ovary syndrome ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11889176|PMID:16123091|PMID:2777199 12370161 INS insulin gene DOID:11714 gestational diabetes ISO RGD:731056 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19269197|REF_RGD_ID:2311131 12370161 INS insulin gene DOID:11717 neonatal diabetes ISO RGD:731056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal diabetes mellitus PMID:11921414|PMID:17047922|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18414213|PMID:18451997|PMID:18981553|PMID:19801494|PMID:19952343|PMID:20034470|PMID:20301620|PMID:20308425|PMID:20659334|PMID:20948967|PMID:21723250|PMID:22957706|PMID:23416061|PMID:23444373|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:34593315 12370161 INS insulin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8660453 12370161 INS insulin gene DOID:12217 Lewy body dementia ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 12370161 INS insulin gene DOID:14330 Parkinson's disease ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 12370161 INS insulin gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:731056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12370161 INS insulin gene DOID:1561 cognitive disorder ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21911655 12370161 INS insulin gene DOID:1793 pancreatic cancer ISO RGD:10812 D RGD:9068941 20200609 RGD PMID:19628082|REF_RGD_ID:2317245 12370161 INS insulin gene DOID:1793 pancreatic cancer disease_progression ISO RGD:731056 D RGD:9068941 20200609 RGD DNA:Polymorphism:promoter:-23 HphI (human) PMID:19152242|REF_RGD_ID:2317253 12370161 INS insulin gene DOID:1793 pancreatic cancer susceptibility ISO RGD:731056 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:19375425|REF_RGD_ID:2317250 12370161 INS insulin gene DOID:1793 pancreatic cancer susceptibility ISO RGD:731056 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Depend PMID:19572116|REF_RGD_ID:2317247 12370161 INS insulin gene DOID:1837 diabetic ketoacidosis ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11430560 12370161 INS insulin gene DOID:1920 hyperuricemia ISO RGD:731056 D RGD:9068941 20200609 RGD PMID:19033255|REF_RGD_ID:6902897 12370161 INS insulin gene DOID:2018 hyperinsulinism ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2991050|PMID:3511099|PMID:4019786|PMID:6382002 12370161 INS insulin gene DOID:2018 hyperinsulinism ISO RGD:731056 D RGD:9068941 20200609 RGD PMID:9667398|REF_RGD_ID:1625121 12370161 INS insulin gene DOID:2237 hepatitis ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12243603 12370161 INS insulin gene DOID:2975 cystic kidney disease ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9879822 12370161 INS insulin gene DOID:3021 acute kidney failure ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12243603 12370161 INS insulin gene DOID:3312 bipolar disorder ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:5506046 12370161 INS insulin gene DOID:3587 pancreatic ductal carcinoma ISO RGD:731056 D RGD:9068941 20200609 RGD Glucagon/insulin PMID:19571666|REF_RGD_ID:2317248 12370161 INS insulin gene DOID:365 bladder disease ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2055425 12370161 INS insulin gene DOID:3892 insulinoma ISO RGD:731056 D RGD:9068941 20200609 RGD protein:altered expression:blood PMID:8175958|REF_RGD_ID:2317266 12370161 INS insulin gene DOID:3892 insulinoma ISO RGD:731056 D RGD:9068941 20200609 RGD protein:altered localization:pancreas PMID:2565624|REF_RGD_ID:2317268 12370161 INS insulin gene DOID:409 liver disease ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29684222 12370161 INS insulin gene DOID:4195 hyperglycemia ISO RGD:10812 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:18056790|PMID:29211853 12370161 INS insulin gene DOID:4195 hyperglycemia ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:8660453|PMID:9861226 12370161 INS insulin gene DOID:4500 hypokalemia ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:496411 12370161 INS insulin gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:731056 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 12370161 INS insulin gene DOID:4989 pancreatitis ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17163263 12370161 INS insulin gene DOID:557 kidney disease ISO RGD:10812 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:29211853 12370161 INS insulin gene DOID:594 panic disorder ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12073167 12370161 INS insulin gene DOID:6000 congestive heart failure ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15628829 12370161 INS insulin gene DOID:630 genetic disease ISO RGD:731056 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11921414|PMID:18171712|PMID:25542748|PMID:25741868|PMID:26101329|PMID:28492532 12370161 INS insulin gene DOID:657 adenoma ISO RGD:10812 D RGD:9068941 20200609 RGD protein:increased secretion:serum PMID:12917331|REF_RGD_ID:2317273 12370161 INS insulin gene DOID:684 hepatocellular carcinoma ISO RGD:731056 D RGD:9068941 20210820 RGD associated with Chronic Hepatitis C;mRNA:decreased expression:liver (human) PMID:33132693|REF_RGD_ID:150340613 12370161 INS insulin gene DOID:8398 osteoarthritis ISO RGD:731056 D RGD:9068941 20200609 RGD protein:increased expression:blood: PMID:2290165|REF_RGD_ID:10045857 12370161 INS insulin gene DOID:8947 diabetic retinopathy ISO RGD:10812 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30463601 12370161 INS insulin gene DOID:8947 diabetic retinopathy ISO RGD:731056 D RGD:9068941 20200609 RGD PMID:22046295|REF_RGD_ID:6902909 12370161 INS insulin gene DOID:9000184 Ventricular Fibrillation ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:5348156 12370161 INS insulin gene DOID:9000197 Edema ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15628829 12370161 INS insulin gene DOID:9000884 Rhabdomyolysis ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12243603 12370161 INS insulin gene DOID:9001542 Albuminuria ISO RGD:10812 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29420703 12370161 INS insulin gene DOID:9001542 Albuminuria ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9861226 12370161 INS insulin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26806094 12370161 INS insulin gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11872684 12370161 INS insulin gene DOID:9001961 Hyperkalemia ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20466255|PMID:8606734 12370161 INS insulin gene DOID:9001981 Weight Loss ISO RGD:10812 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:29211853 12370161 INS insulin gene DOID:9001981 Weight Loss ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22940631 12370161 INS insulin gene DOID:9002165 Diabetic Nephropathies ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:2143390|PMID:7713310|PMID:7987072 12370161 INS insulin gene DOID:9002165 Diabetic Nephropathies resistance ISO RGD:2916 D RGD:9068941 20200609 RGD PMID:22068113|REF_RGD_ID:6902908 12370161 INS insulin gene DOID:9002188 Hypoinsulinemia ISO RGD:731056 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypoinsulinemia PMID:12610512|PMID:25741868|PMID:26467025|PMID:33206859 12370161 INS insulin gene DOID:9002304 Prostatic Neoplasms ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12610512 12370161 INS insulin gene DOID:9002554 Tachycardia ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1324617 12370161 INS insulin gene DOID:9003242 Paresthesia ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9861226 12370161 INS insulin gene DOID:9003282 Hyperproinsulinemia ISO RGD:731056 D RGD:7240710 20180130 OMIM 12370161 INS insulin gene DOID:9003282 Hyperproinsulinemia ISO RGD:731056 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hyperproinsulinemia PMID:1601997|PMID:20034470|PMID:2196279|PMID:25741868|PMID:2991050|PMID:3057496|PMID:3306677|PMID:3470784|PMID:3511099|PMID:3537011|PMID:381941|PMID:4019786|PMID:6261753|PMID:6312455|PMID:6339950|PMID:6368587|PMID:6382002|PMID:7242673|PMID:7350438|PMID:8269791|PMID:8421693|PMID:8636380|PMID:9141561|PMID:9667398 12370161 INS insulin gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:731056 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:11921414|PMID:12610512|PMID:18162506|PMID:18171712|PMID:20809526|PMID:22264700|PMID:22572540|PMID:24275212|PMID:24753243|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30455893|PMID:30456822|PMID:33206859|PMID:35083481 12370161 INS insulin gene DOID:9004319 Ventricular Outflow Obstruction ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8660453 12370161 INS insulin gene DOID:9004407 Permanent Neonatal Diabetes Mellitus 4 ISO RGD:731056 D RGD:7240710 20200520 OMIM 12370161 INS insulin gene DOID:9004407 Permanent Neonatal Diabetes Mellitus 4 ISO RGD:731056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 4 PMID:17047922|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18414213|PMID:18451997|PMID:18981553|PMID:19801494|PMID:19952343|PMID:20034470|PMID:20133622|PMID:20301620|PMID:20308425|PMID:20659334|PMID:20938745|PMID:20948967|PMID:21723250|PMID:22957706|PMID:23416061|PMID:23444373|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:34593315 12370161 INS insulin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24587105 12370161 INS insulin gene DOID:9004590 Acute Liver Failure ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12639207 12370161 INS insulin gene DOID:9005246 Paralysis ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7433326 12370161 INS insulin gene DOID:9006024 Hypotension ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1324617|PMID:48835|PMID:7418494 12370161 INS insulin gene DOID:9006599 Hypertriglyceridemia ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12754275 12370161 INS insulin gene DOID:9006646 Metabolic Syndrome ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11274935|PMID:16259526 12370161 INS insulin gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27884723|PMID:30266311 12370161 INS insulin gene DOID:9006854 MPTP Poisoning ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26364587 12370161 INS insulin gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20828608 12370161 INS insulin gene DOID:9007279 Type 2 Diabetes Mellitus 1 ISO RGD:731056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 PMID:11921414|PMID:17047922|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18192540|PMID:18414213|PMID:20007936|PMID:20133622|PMID:20301620|PMID:20938745|PMID:20948967|PMID:21592955|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30456822|PMID:34593315 12370161 INS insulin gene DOID:9007692 Insulin Resistance ISO RGD:731056 D RGD:9068941 20200609 RGD PMID:3322910|REF_RGD_ID:2311112 12370161 INS insulin gene DOID:9007692 Insulin Resistance ISO RGD:731056 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:11522680|PMID:24648896|PMID:25796170|PMID:33651899 12370161 INS insulin gene DOID:9008023 Memory Disorders ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9264093 12370161 INS insulin gene DOID:9351 diabetes mellitus ISO RGD:731056 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:11921414|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18192540|PMID:20226046|PMID:25542748|PMID:25741868|PMID:26101329 12370161 INS insulin gene DOID:9352 type 2 diabetes mellitus ISO RGD:731056 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822 12370161 INS insulin gene DOID:9452 fatty liver disease ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9048448 12370161 INS insulin gene DOID:9452 fatty liver disease ISO RGD:731056 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:18713300|REF_RGD_ID:2311137 12370161 INS insulin gene DOID:9744 type 1 diabetes mellitus ISO RGD:731056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus PMID:11921414|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18192540|PMID:20133622|PMID:20226046|PMID:21592955|PMID:22235272|PMID:24622368|PMID:25542748|PMID:25721872|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30414308 12370161 INS insulin gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:731056 D RGD:9068941 20210820 RGD associated autoimmune polyendocrine syndrome;DNA:repeat:promoter (human) PMID:20535137|REF_RGD_ID:150340608 12370161 INS insulin gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:731056 D RGD:9068941 20210820 RGD human gene in a mouse model PMID:16113600|PMID:16382177|PMID:17284779|REF_RGD_ID:150340606|REF_RGD_ID:150340615|REF_RGD_ID:150340616 12370161 INS insulin gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:731056 D RGD:9068941 20210820 RGD human protein in a mouse model PMID:21765853|PMID:26783749|REF_RGD_ID:150340605|REF_RGD_ID:150340612 12370161 INS insulin gene DOID:9970 obesity ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11528401|PMID:2777199|PMID:29035695|PMID:8923850 12370161 INS insulin gene DOID:9993 hypoglycemia ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1324617|PMID:1646414|PMID:1890151|PMID:20620209|PMID:22940631|PMID:2554359|PMID:48835 12370168 ABHD14A abhydrolase domain containing 14A gene DOID:630 genetic disease ISO RGD:1601874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370194 KLHDC8B kelch domain containing 8B gene DOID:0060852 Pierson syndrome ISO RGD:1602285 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 12370194 KLHDC8B kelch domain containing 8B gene DOID:630 genetic disease ISO RGD:1602285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370194 KLHDC8B kelch domain containing 8B gene DOID:8567 Hodgkin's lymphoma ISO RGD:1602285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Classic Hodgkin lymphoma PMID:19706467 12370194 KLHDC8B kelch domain containing 8B gene DOID:8567 Hodgkin's lymphoma susceptibility ISO RGD:1602285 D RGD:7240710 20190502 OMIM 12370194 KLHDC8B kelch domain containing 8B gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1602285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12370207 LAMTOR1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1605997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 12370207 LAMTOR1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1605997 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12370207 LAMTOR1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 gene DOID:1059 intellectual disability ISO RGD:1605997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12370207 LAMTOR1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 gene DOID:630 genetic disease ISO RGD:1605997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370216 PCMTD2 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 gene DOID:630 genetic disease ISO RGD:1313858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370237 HMX2 H6 family homeobox 2 gene DOID:630 genetic disease ISO RGD:1344941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370237 HMX2 H6 family homeobox 2 gene DOID:9002189 High Myopia ISO RGD:1344941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12370247 B3GALT5 beta-1,3-galactosyltransferase 5 gene DOID:12849 autistic disorder ISO RGD:1315510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12370247 B3GALT5 beta-1,3-galactosyltransferase 5 gene DOID:1793 pancreatic cancer ISO RGD:1315510 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:14555842|REF_RGD_ID:2317558 12370273 DUS2 dihydrouridine synthase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1603040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12370273 DUS2 dihydrouridine synthase 2 gene DOID:630 genetic disease ISO RGD:1603040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370300 HAGHL hydroxyacylglutathione hydrolase like gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1317582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12370300 HAGHL hydroxyacylglutathione hydrolase like gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1317582 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12370300 HAGHL hydroxyacylglutathione hydrolase like gene DOID:1826 epilepsy ISO RGD:1317582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12370300 HAGHL hydroxyacylglutathione hydrolase like gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1317582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12370300 HAGHL hydroxyacylglutathione hydrolase like gene DOID:630 genetic disease ISO RGD:1317582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:1342972 D RGD:9068941 20210820 RGD DNA:mutations PMID:16676365|REF_RGD_ID:126925209 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0060071 pre-malignant neoplasm ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0070113 Niemann-Pick disease type C1 treatment ISO RGD:1332211 D RGD:9068941 20200609 RGD PMID:18591368|REF_RGD_ID:10047095 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1342972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0080006 bone development disease ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28288113 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0080630 B-lymphoblastic leukemia/lymphoma treatment ISO RGD:1342972 D RGD:9068941 20200609 RGD PMID:21481795|REF_RGD_ID:11038814 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:1342972 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:10988075|PMID:11423618|PMID:11567109|PMID:11569495|PMID:11853795|PMID:11861307|PMID:11964322|PMID:12130516|PMID:12399961|PMID:12576318|PMID:12623848|PMID:12663457|PMID:12783380|PMID:14559829|PMID:14745431|PMID:15194504|PMID:15256422|PMID:15381060|PMID:15510211|PMID:17008892|PMID:17114651|PMID:17189410|PMID:18223278|PMID:18354488|PMID:18615627|PMID:18757400|PMID:18828913|PMID:19164531|PMID:19264234|PMID:19466505|PMID:19557636|PMID:19652056|PMID:19768693|PMID:19811824|PMID:20010464|PMID:20367437|PMID:20512393|PMID:20537386|PMID:20557306|PMID:20607847|PMID:20697894|PMID:20702476|PMID:20963643|PMID:21221851|PMID:21489624|PMID:21505103|PMID:21509757|PMID:21562040|PMID:21605905|PMID:21762985|PMID:21872826|PMID:21888027|PMID:21895409|PMID:22210874|PMID:22306673|PMID:22772060|PMID:22870928|PMID:22912393|PMID:23355941|PMID:23540562|PMID:23575252|PMID:23676790|PMID:24109527|PMID:24236021|PMID:24456693|PMID:25152116|PMID:25157968|PMID:25686603|PMID:25741868|PMID:28492532|PMID:31775759 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1342972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0112203 developmental and epileptic encephalopathy 67 ISO RGD:1342972 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 67 PMID:25741868 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:10534 stomach cancer ISO RGD:1342972 D RGD:9068941 20210528 RGD human cells in mouse model; associated with mental depression; protein:increased expression, increased phosphorylation:stomach (human) PMID:31396300|REF_RGD_ID:126908003 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:10907 microcephaly ISO RGD:1342972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:33223528 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:11476 osteoporosis ISO RGD:1332211 D RGD:9068941 20200609 RGD PMID:10700189|REF_RGD_ID:10047094 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:14330 Parkinson's disease ISO RGD:1332211 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:24412932|REF_RGD_ID:8693592 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:14330 Parkinson's disease ISO RGD:1342972 D RGD:9068941 20200609 RGD protein:increased phosphorylation:striatum: PMID:20823226|REF_RGD_ID:8693409 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:14330 Parkinson's disease ISO RGD:1584969 D RGD:9068941 20200609 RGD PMID:24412932|REF_RGD_ID:8693592 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:14504 Niemann-Pick disease ISO RGD:1332211 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum: PMID:20883783|REF_RGD_ID:8693571 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:1596 depressive disorder ISO RGD:1332211 D RGD:9068941 20210507 RGD protein:increased expression, increased phosphorylation:hippocampus (mouse) PMID:31396300|REF_RGD_ID:126908003 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:1682 congenital heart disease ISO RGD:1342972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital heart disease PMID:25741868|PMID:28288113|PMID:28492532|PMID:32643838 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:299 adenocarcinoma ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1342972 D RGD:9068941 20210820 RGD human cells in mouse model PMID:26758680|REF_RGD_ID:126925226 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:1342972 D RGD:9068941 20210521 RGD DNA:SNP:3'utr: (rs4740363) (human) PMID:21472143|REF_RGD_ID:126925218 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:5199 ureteral obstruction ISO RGD:1584969 D RGD:9068941 20200609 RGD protein:increased activity:kidney: PMID:15629889|REF_RGD_ID:8693572 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1342972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:11569495|PMID:11853795|PMID:12399961|PMID:12623848|PMID:14745431|PMID:19164531|PMID:19264234|PMID:19811824|PMID:21489624|PMID:23676790|PMID:24236021|PMID:25157968|PMID:31775759 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1342972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24728327|PMID:28492532 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1332211 D RGD:9068941 20210820 RGD PMID:32171747|REF_RGD_ID:126907997 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:8552 chronic myeloid leukemia ISO RGD:1342972 D RGD:7240710 20190821 OMIM 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:8552 chronic myeloid leukemia ISO RGD:1342972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ABL1-Related Disorder | ClinVar Annotator: match by term: Leukemia, Philadelphia chromosome-positive, resistant to imatinib PMID:10988075|PMID:11423618|PMID:11569495|PMID:11853795|PMID:11861307|PMID:11964322|PMID:12130516|PMID:12399961|PMID:12623848|PMID:12663457|PMID:14559829|PMID:14745431|PMID:15194504|PMID:15256422|PMID:15381060|PMID:18615627|PMID:19466505|PMID:19652056|PMID:20367437|PMID:20512393|PMID:20537386|PMID:20697894|PMID:20963643|PMID:21505103|PMID:21562040|PMID:21762985|PMID:21872826|PMID:21895409|PMID:22306673|PMID:22772060|PMID:22870928|PMID:23355941|PMID:23540562|PMID:23676790|PMID:24236021|PMID:24456693|PMID:25157968|PMID:25686603|PMID:25741868|PMID:28492532|PMID:33783941 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:1342972 D RGD:9068941 20200609 RGD PMID:3021820|REF_RGD_ID:1598673 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:1342972 D RGD:9068941 20200609 RGD PMID:21481795|REF_RGD_ID:11038814 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:1342972 D RGD:9068941 20200609 RGD DNA:missense mutations: :multiple PMID:23289634|REF_RGD_ID:11038807 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9000117 Esophageal Neoplasms ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9001276 Failure to Thrive ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28288113 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9002170 Experimental Neoplasms ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878872 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:1342972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features PMID:10988075|PMID:11423618|PMID:11853795|PMID:11861307|PMID:11964322|PMID:12130516|PMID:12399961|PMID:12623848|PMID:14559829|PMID:14745431|PMID:15194504|PMID:15256422|PMID:15381060|PMID:18615627|PMID:19466505|PMID:19652056|PMID:20367437|PMID:20512393|PMID:20537386|PMID:20697894|PMID:20963643|PMID:21505103|PMID:21562040|PMID:21762985|PMID:21872826|PMID:21895409|PMID:22306673|PMID:22772060|PMID:22870928|PMID:23355941|PMID:23540562|PMID:23676790|PMID:24236021|PMID:24456693|PMID:25157968|PMID:25686603|PMID:25741868 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9002867 Myeloid Leukemia, Chronic-Phase ISO RGD:1342972 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:11559572|REF_RGD_ID:11038811 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9002867 Myeloid Leukemia, Chronic-Phase disease_progression ISO RGD:1342972 D RGD:9068941 20200609 RGD PMID:19344397|REF_RGD_ID:11038809 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9004222 CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME ISO RGD:1342972 D RGD:7240710 20200910 OMIM 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9004222 CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME ISO RGD:1342972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital heart defects and skeletal malformations syndrome PMID:25741868|PMID:28288113|PMID:28492532|PMID:32643838|PMID:33223528|PMID:33783941 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28288113 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9007188 Liver Neoplasms ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9007702 Carcinogenesis ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23968727 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9008023 Memory Disorders treatment ISO RGD:1332211 D RGD:9068941 20200609 RGD PMID:18559370|REF_RGD_ID:8693418 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9008023 Memory Disorders treatment ISO RGD:1584969 D RGD:9068941 20200609 RGD PMID:18559370|REF_RGD_ID:8693418 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20234815 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9119 acute myeloid leukemia ISO RGD:1342972 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:12161353|REF_RGD_ID:10450603 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9256 colorectal cancer ameliorates ISO RGD:1342972 D RGD:9068941 20210507 RGD human gene in mouse model PMID:32850446|REF_RGD_ID:126908002 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9256 colorectal cancer disease_progression ISO RGD:1342972 D RGD:9068941 20210507 RGD mRNA, protein:increased expression:colorectum (human) PMID:32850446|REF_RGD_ID:126908002 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9273 citrullinemia ISO RGD:1342972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:28492532 12370321 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11984797|PMID:21898527 12370321 Abl1 c-abl oncogene 1, non-receptor tyrosine kinase gene DOID:10652 Alzheimer's disease ISO RGD:1332211 D RGD:9068941 20200609 RGD PMID:19700222|REF_RGD_ID:8693570 12370341 SLC41A3 solute carrier family 41 member 3 gene DOID:630 genetic disease ISO RGD:1343810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370341 SLC41A3 solute carrier family 41 member 3 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1343810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12370341 SLC41A3 solute carrier family 41 member 3 gene DOID:9270 alkaptonuria ISO RGD:1343810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12370368 MMP17 matrix metallopeptidase 17 gene DOID:630 genetic disease ISO RGD:1323053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370382 ARMT1 acidic residue methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1313144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370394 ARID3A AT-rich interaction domain 3A gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1313245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 12370394 ARID3A AT-rich interaction domain 3A gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1313245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 12370394 ARID3A AT-rich interaction domain 3A gene DOID:5339 cyclic hematopoiesis ISO RGD:1313245 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12370394 ARID3A AT-rich interaction domain 3A gene DOID:630 genetic disease ISO RGD:1313245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370394 ARID3A AT-rich interaction domain 3A gene DOID:684 hepatocellular carcinoma ISO RGD:1313245 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35179300 12370421 SVBP small vasohibin binding protein gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12370421 SVBP small vasohibin binding protein gene DOID:10907 microcephaly ISO RGD:1605525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:30607023|PMID:31363758 12370421 SVBP small vasohibin binding protein gene DOID:630 genetic disease ISO RGD:1605525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370421 SVBP small vasohibin binding protein gene DOID:9008370 NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY ISO RGD:1605525 D RGD:7240710 20230104 OMIM 12370421 SVBP small vasohibin binding protein gene DOID:9008370 NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY ISO RGD:1605525 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly PMID:25741868|PMID:30607023|PMID:31363758 12370437 RP9 RP9 pre-mRNA splicing factor gene DOID:0110387 retinitis pigmentosa 9 ISO RGD:1342620 D RGD:7240710 20180130 OMIM 12370437 RP9 RP9 pre-mRNA splicing factor gene DOID:0110387 retinitis pigmentosa 9 ISO RGD:1342620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 9 PMID:12032732|PMID:1479605|PMID:15474994|PMID:15541726|PMID:16671097|PMID:16799052|PMID:17110909|PMID:23647439|PMID:25741868|PMID:28492532|PMID:8025041|PMID:8513323 12370437 RP9 RP9 pre-mRNA splicing factor gene DOID:10584 retinitis pigmentosa ISO RGD:1342620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12032732|PMID:1479605|PMID:15474994|PMID:15541726|PMID:16671097|PMID:17110909|PMID:23647439|PMID:25741868|PMID:28492532 12370437 RP9 RP9 pre-mRNA splicing factor gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1342620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16380913|PMID:20177705|PMID:28492532 12370437 RP9 RP9 pre-mRNA splicing factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1342620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12370437 RP9 RP9 pre-mRNA splicing factor gene DOID:630 genetic disease ISO RGD:1342620 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12370447 INPP5B inositol polyphosphate-5-phosphatase B gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1342739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12370447 INPP5B inositol polyphosphate-5-phosphatase B gene DOID:630 genetic disease ISO RGD:1342739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370447 INPP5B inositol polyphosphate-5-phosphatase B gene DOID:9007045 Dent Disease 2 ISO RGD:1342739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dent disease type 2 PMID:28018608 12370487 AP1S1 adaptor related protein complex 1 subunit sigma 1 gene DOID:0060483 MEDNIK syndrome ISO RGD:1314226 D RGD:7240710 20180130 OMIM 12370487 AP1S1 adaptor related protein complex 1 subunit sigma 1 gene DOID:0060483 MEDNIK syndrome ISO RGD:1314226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MEDNIK syndrome PMID:1905767|PMID:19057675|PMID:23423674|PMID:25741868|PMID:28492532|PMID:30244301 12370487 AP1S1 adaptor related protein complex 1 subunit sigma 1 gene DOID:1852 intrahepatic cholestasis ISO RGD:1314226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23423674 12370487 AP1S1 adaptor related protein complex 1 subunit sigma 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12370487 AP1S1 adaptor related protein complex 1 subunit sigma 1 gene DOID:630 genetic disease ISO RGD:1314226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:19057675|PMID:23423674|PMID:28492532 12370487 AP1S1 adaptor related protein complex 1 subunit sigma 1 gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:1314226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY PMID:21681106 12370487 AP1S1 adaptor related protein complex 1 subunit sigma 1 gene DOID:9455 lipid storage disease ISO RGD:1314226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17175557 12370497 INTS3 integrator complex subunit 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12370497 INTS3 integrator complex subunit 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12370497 INTS3 integrator complex subunit 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603299 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12370497 INTS3 integrator complex subunit 3 gene DOID:10283 prostate cancer ISO RGD:1603299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12370497 INTS3 integrator complex subunit 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1603299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12370497 INTS3 integrator complex subunit 3 gene DOID:2661 myoepithelioma ISO RGD:1603299 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12370497 INTS3 integrator complex subunit 3 gene DOID:5812 MHC class II deficiency ISO RGD:1603299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12370497 INTS3 integrator complex subunit 3 gene DOID:630 genetic disease ISO RGD:1603299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370497 INTS3 integrator complex subunit 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12370610 ARF5 ADP ribosylation factor 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12370610 ARF5 ADP ribosylation factor 5 gene DOID:630 genetic disease ISO RGD:732462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370620 RTN3 reticulon 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1349287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12370620 RTN3 reticulon 3 gene DOID:1059 intellectual disability ISO RGD:1349287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12370620 RTN3 reticulon 3 gene DOID:630 genetic disease ISO RGD:1349287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370636 PLXNB1 plexin B1 gene DOID:630 genetic disease ISO RGD:1321541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12370636 PLXNB1 plexin B1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1321541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12370636 PLXNB1 plexin B1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12370687 CLPB ClpB family mitochondrial disaggregase gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:731315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:19732866|PMID:22586289|PMID:28492532 12370687 CLPB ClpB family mitochondrial disaggregase gene DOID:0081133 3-methylglutaconic aciduria type 7a ISO RGD:731315 D RGD:7240710 20220831 OMIM 12370687 CLPB ClpB family mitochondrial disaggregase gene DOID:0081133 3-methylglutaconic aciduria type 7a ISO RGD:731315 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIA PMID:25741868|PMID:28492532|PMID:32313153|PMID:34140661 12370687 CLPB ClpB family mitochondrial disaggregase gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:731315 D RGD:7240710 20220831 OMIM 12370687 CLPB ClpB family mitochondrial disaggregase gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:731315 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:16199547|PMID:17576681|PMID:25595726|PMID:25597510|PMID:25597511|PMID:25650066|PMID:25741868|PMID:26916670|PMID:27290639|PMID:27891836|PMID:28492532|PMID:28554332|PMID:28687938|PMID:32219827|PMID:32313153|PMID:32573439|PMID:34115842|PMID:34140661|PMID:34782754|PMID:35616898|PMID:9536098 12370687 CLPB ClpB family mitochondrial disaggregase gene DOID:1059 intellectual disability ISO RGD:731315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12370687 CLPB ClpB family mitochondrial disaggregase gene DOID:11252 microcytic anemia ISO RGD:731315 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microcytic anemia PMID:34140661 12370687 CLPB ClpB family mitochondrial disaggregase gene DOID:1227 neutropenia ISO RGD:731315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:25597510|PMID:25597511|PMID:25741868|PMID:27290639|PMID:27891836|PMID:28492532|PMID:28687938|PMID:34782754 12370687 CLPB ClpB family mitochondrial disaggregase gene DOID:630 genetic disease ISO RGD:731315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:25597510|PMID:25741868|PMID:27290639|PMID:28492532|PMID:28554332|PMID:28687938 12370687 CLPB ClpB family mitochondrial disaggregase gene DOID:9000852 Severe Congenital Neutropenia 9, Autosomal Dominant ISO RGD:731315 D RGD:7240710 20220427 OMIM 12370687 CLPB ClpB family mitochondrial disaggregase gene DOID:9000852 Severe Congenital Neutropenia 9, Autosomal Dominant ISO RGD:731315 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 9, autosomal dominant PMID:28492532|PMID:34115842 12370716 DKK3 dickkopf WNT signaling pathway inhibitor 3 gene DOID:0050770 polycystic liver disease ISO RGD:1353433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 12370716 DKK3 dickkopf WNT signaling pathway inhibitor 3 gene DOID:1059 intellectual disability ISO RGD:1353433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12370716 DKK3 dickkopf WNT signaling pathway inhibitor 3 gene DOID:630 genetic disease ISO RGD:1353433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370716 DKK3 dickkopf WNT signaling pathway inhibitor 3 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1353433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease 12370716 DKK3 dickkopf WNT signaling pathway inhibitor 3 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1353433 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 12370716 DKK3 dickkopf WNT signaling pathway inhibitor 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1353433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12370730 BTBD10 BTB domain containing 10 gene DOID:1059 intellectual disability ISO RGD:1601947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12370730 BTBD10 BTB domain containing 10 gene DOID:630 genetic disease ISO RGD:1601947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370752 LGI1 leucine rich glioma inactivated 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:733103 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy 12370752 LGI1 leucine rich glioma inactivated 1 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:733103 D RGD:7240710 20180130 OMIM 12370752 LGI1 leucine rich glioma inactivated 1 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:733103 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy with auditory features | ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:11810107|PMID:11978770|PMID:12205652|PMID:12601709|PMID:12771268|PMID:14510822|PMID:15079010|PMID:15079011|PMID:15349881|PMID:15660777|PMID:15857855|PMID:17296837|PMID:17562837|PMID:17576681|PMID:18625862|PMID:18711109|PMID:20659151|PMID:20863412|PMID:21444903|PMID:21504429|PMID:22496201|PMID:24206907|PMID:25485908|PMID:25741868|PMID:26467025|PMID:26773249|PMID:26993267|PMID:27760137|PMID:28492532|PMID:29133209|PMID:29924869|PMID:30284771|PMID:32086284|PMID:9536098 12370752 LGI1 leucine rich glioma inactivated 1 gene DOID:1059 intellectual disability ISO RGD:733103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12370752 LGI1 leucine rich glioma inactivated 1 gene DOID:1826 epilepsy ISO RGD:733103 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:21504429|PMID:25741868|PMID:26773249|PMID:28492532 12370752 LGI1 leucine rich glioma inactivated 1 gene DOID:1826 epilepsy ISO RGD:733103 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12370752 LGI1 leucine rich glioma inactivated 1 gene DOID:630 genetic disease ISO RGD:733103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11810107|PMID:15079010|PMID:15079011|PMID:15857855|PMID:17576681|PMID:18711109|PMID:20659151|PMID:21504429|PMID:25741868|PMID:26467025|PMID:26773249|PMID:28492532|PMID:29924869|PMID:9536098 12370752 LGI1 leucine rich glioma inactivated 1 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:628742 D RGD:9068941 20200609 RGD PMID:30813600|REF_RGD_ID:14995940 12370752 LGI1 leucine rich glioma inactivated 1 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:733103 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:25741868 12370772 S100PBP S100P binding protein gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1604319 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:16199547|PMID:17576681|PMID:28492532|PMID:9536098 12370772 S100PBP S100P binding protein gene DOID:630 genetic disease ISO RGD:1604319 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12370772 S100PBP S100P binding protein gene DOID:9005516 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1 ISO RGD:1604319 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset PMID:25741868 12370796 CRYAB crystallin alpha B gene DOID:0050537 posterior polar cataract ISO RGD:737518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Posterior polar cataract 12370796 CRYAB crystallin alpha B gene DOID:0050700 cardiomyopathy ISO RGD:737518 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11013455|PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26265630|PMID:26694549|PMID:26961874|PMID:28492532|PMID:29544605|PMID:31215171 12370796 CRYAB crystallin alpha B gene DOID:0050700 cardiomyopathy ISO RGD:737518 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11013455|PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:17576681|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26265630|PMID:26694549|PMID:26961874|PMID:28492532|PMID:29544605|PMID:9536098 12370796 CRYAB crystallin alpha B gene DOID:0050700 cardiomyopathy ISO RGD:737518 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11013455|PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:17576681|PMID:18587492|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26265630|PMID:26694549|PMID:26961874|PMID:28492532|PMID:28640093|PMID:29544605|PMID:31215171|PMID:32110827|PMID:33834702|PMID:33906374|PMID:34426522|PMID:35531184|PMID:9536098 12370796 CRYAB crystallin alpha B gene DOID:0080093 myofibrillar myopathy 2 ISO RGD:737518 D RGD:7240710 20180130 OMIM 12370796 CRYAB crystallin alpha B gene DOID:0080093 myofibrillar myopathy 2 ISO RGD:737518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 2 PMID:11013455|PMID:12601044|PMID:12812987|PMID:14681890|PMID:16483541|PMID:19282282|PMID:20301672|PMID:21130652|PMID:21337604|PMID:21920752|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25741868|PMID:26265630|PMID:26402864|PMID:26467025|PMID:26542570|PMID:26961874|PMID:27226619|PMID:27260392|PMID:28492532|PMID:28798025|PMID:31127727|PMID:32013205|PMID:32420686|PMID:32430163|PMID:570292|PMID:8000975|PMID:9731540 12370796 CRYAB crystallin alpha B gene DOID:0080307 myofibrillar myopathy ISO RGD:737518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26467025|PMID:26694549|PMID:26961874|PMID:28492532|PMID:28690483 12370796 CRYAB crystallin alpha B gene DOID:0080309 fatal infantile hypertonic myofibrillar myopathy ISO RGD:737518 D RGD:7240710 20180620 OMIM 12370796 CRYAB crystallin alpha B gene DOID:0080309 fatal infantile hypertonic myofibrillar myopathy ISO RGD:737518 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fatal infantile hypertonic myofibrillar myopathy | ClinVar Annotator: match by term: MFM, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED PMID:11013455|PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:19282282|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26265630|PMID:26467025|PMID:26694549|PMID:26961874|PMID:28492532|PMID:28690483|PMID:28798025 12370796 CRYAB crystallin alpha B gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26694549|PMID:26961874|PMID:28492532 12370796 CRYAB crystallin alpha B gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:737518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 12370796 CRYAB crystallin alpha B gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:737518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:25966638|PMID:28492532 12370796 CRYAB crystallin alpha B gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:737518 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 12370796 CRYAB crystallin alpha B gene DOID:0110250 cataract 16 multiple types ISO RGD:737518 D RGD:7240710 20180130 OMIM 12370796 CRYAB crystallin alpha B gene DOID:0110250 cataract 16 multiple types ISO RGD:737518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CATARACT, CONGENITAL LAMELLAR | ClinVar Annotator: match by term: Cataract 16 multiple types PMID:11013455|PMID:11577372|PMID:1560021|PMID:16483541|PMID:16505043|PMID:16793013|PMID:16877416|PMID:17116488|PMID:19282282|PMID:19461931|PMID:20141356|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26265630|PMID:26467025|PMID:26694549|PMID:26961874|PMID:28492532|PMID:28690483|PMID:28798025 12370796 CRYAB crystallin alpha B gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26694549|PMID:26961874|PMID:28492532 12370796 CRYAB crystallin alpha B gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:737518 D RGD:7240710 20180130 OMIM 12370796 CRYAB crystallin alpha B gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:737518 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:11013455|PMID:14681890|PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:17576681|PMID:18587492|PMID:19282282|PMID:19461931|PMID:19597569|PMID:20141356|PMID:20171888|PMID:20301672|PMID:21087083|PMID:21130652|PMID:21337604|PMID:21520333|PMID:21866213|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23197161|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25214167|PMID:25741868|PMID:26265630|PMID:26402864|PMID:26467025|PMID:26627873|PMID:26694549|PMID:26961874|PMID:27226619|PMID:27260392|PMID:27532257|PMID:28492532|PMID:28493373|PMID:28640093|PMID:28690483|PMID:28798025|PMID:29544605|PMID:30847666|PMID:31127727|PMID:31215171|PMID:31678106|PMID:31983221|PMID:32013205|PMID:32110827|PMID:32430163|PMID:32573669|PMID:32880476|PMID:33834702|PMID:33906374|PMID:34426522|PMID:35531184|PMID:9536098 12370796 CRYAB crystallin alpha B gene DOID:0111425 restrictive cardiomyopathy 1 ISO RGD:737518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 PMID:21920752|PMID:23194663|PMID:26627873|PMID:28492532|PMID:28493373 12370796 CRYAB crystallin alpha B gene DOID:1059 intellectual disability ISO RGD:737518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12370796 CRYAB crystallin alpha B gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26694549|PMID:26961874|PMID:28492532 12370796 CRYAB crystallin alpha B gene DOID:12704 ataxia telangiectasia ISO RGD:737518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12370796 CRYAB crystallin alpha B gene DOID:1289 neurodegenerative disease ISO RGD:737518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 12370796 CRYAB crystallin alpha B gene DOID:12930 dilated cardiomyopathy ISO RGD:737518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:19597569|PMID:26402864|PMID:28492532 12370796 CRYAB crystallin alpha B gene DOID:1749 squamous cell carcinoma ISO RGD:737518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12370796 CRYAB crystallin alpha B gene DOID:4448 macular degeneration treatment ISO RGD:2414 D RGD:9068941 20200609 RGD PMID:25483086|REF_RGD_ID:13503350 12370796 CRYAB crystallin alpha B gene DOID:4450 renal cell carcinoma ISO RGD:737518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 12370796 CRYAB crystallin alpha B gene DOID:6000 congestive heart failure ISO RGD:737518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26694549|PMID:26961874|PMID:28492532 12370796 CRYAB crystallin alpha B gene DOID:630 genetic disease ISO RGD:737518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12370796 CRYAB crystallin alpha B gene DOID:83 cataract ISO RGD:737518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26694549|PMID:26961874|PMID:28492532 12370796 CRYAB crystallin alpha B gene DOID:9000117 Esophageal Neoplasms ISO RGD:737518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 12370796 CRYAB crystallin alpha B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12370796 CRYAB crystallin alpha B gene DOID:9002304 Prostatic Neoplasms ISO RGD:737518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12370796 CRYAB crystallin alpha B gene DOID:9002928 Colonic Neoplasms ISO RGD:737518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12370796 CRYAB crystallin alpha B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:737518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12370796 CRYAB crystallin alpha B gene DOID:9005873 Tongue Neoplasms ISO RGD:737518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19840781 12370796 CRYAB crystallin alpha B gene DOID:9007102 Myocardial Ischemia ISO RGD:2414 D RGD:9068941 20200609 RGD PMID:11945023|REF_RGD_ID:704398 12370796 CRYAB crystallin alpha B gene DOID:9007364 Mouth Neoplasms ISO RGD:737518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12370796 CRYAB crystallin alpha B gene DOID:9008217 Hemorrhage ISO RGD:2414 D RGD:9068941 20200609 RGD associated with Wounds and Injuries;protein:decreased phosphorylation:heart PMID:17293487|REF_RGD_ID:2303639 12370796 CRYAB crystallin alpha B gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:737518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 12370803 PELP1 proline, glutamate and leucine rich protein 1 gene DOID:630 genetic disease ISO RGD:1604366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370803 PELP1 proline, glutamate and leucine rich protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1604366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12370824 DNAJC7 DnaJ heat shock protein family (Hsp40) member C7 gene DOID:1826 epilepsy ISO RGD:1349384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 12370824 DNAJC7 DnaJ heat shock protein family (Hsp40) member C7 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1349384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12370824 DNAJC7 DnaJ heat shock protein family (Hsp40) member C7 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1349384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12370824 DNAJC7 DnaJ heat shock protein family (Hsp40) member C7 gene DOID:630 genetic disease ISO RGD:1349384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370851 SCMH1 Scm polycomb group protein homolog 1 gene DOID:0060224 atrial fibrillation ISO RGD:1314031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12370851 SCMH1 Scm polycomb group protein homolog 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1314031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12370851 SCMH1 Scm polycomb group protein homolog 1 gene DOID:0111938 immunodeficiency 24 ISO RGD:1314031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency PMID:28492532 12370851 SCMH1 Scm polycomb group protein homolog 1 gene DOID:630 genetic disease ISO RGD:1314031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370899 AOPEP aminopeptidase O (putative) gene DOID:0060071 pre-malignant neoplasm ISO RGD:1320010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12370899 AOPEP aminopeptidase O (putative) gene DOID:0060224 atrial fibrillation ISO RGD:1320010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22544366|PMID:29892015|PMID:30061737 12370899 AOPEP aminopeptidase O (putative) gene DOID:0111087 Fanconi anemia complementation group C ISO RGD:1320010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group C PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:10431244|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17924555|PMID:19278965|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32496904|PMID:32546565|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 12370899 AOPEP aminopeptidase O (putative) gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1320010 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:08128956|PMID:08844212|PMID:09616183|PMID:12670332|PMID:15695377|PMID:17924555|PMID:22995991|PMID:23028338|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26689913|PMID:26740942|PMID:27153395|PMID:28492532|PMID:28767289|PMID:30031030|PMID:31784482|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:33471991|PMID:34117267|PMID:8128956|PMID:8844212|PMID:8882868|PMID:9521584|PMID:9616183 12370899 AOPEP aminopeptidase O (putative) gene DOID:0111140 IGSF1 deficiency syndrome ISO RGD:1320010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement 12370899 AOPEP aminopeptidase O (putative) gene DOID:1059 intellectual disability ISO RGD:1320010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12370899 AOPEP aminopeptidase O (putative) gene DOID:13636 Fanconi anemia ISO RGD:1320010 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:11050007|PMID:12093742|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28717661|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30630526|PMID:30967997|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33471991|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 12370899 AOPEP aminopeptidase O (putative) gene DOID:13636 Fanconi anemia ISO RGD:1320010 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 12370899 AOPEP aminopeptidase O (putative) gene DOID:13636 Fanconi anemia ISO RGD:1320010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 12370899 AOPEP aminopeptidase O (putative) gene DOID:1520 colon carcinoma ISO RGD:1320010 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:25058500|PMID:27165003 12370899 AOPEP aminopeptidase O (putative) gene DOID:1612 breast cancer ISO RGD:1320010 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:08128956|PMID:08844212|PMID:09616183|PMID:14695169|PMID:15695377|PMID:17924555|PMID:20509860|PMID:21520333|PMID:21659346|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28492532|PMID:29654263|PMID:29922827|PMID:30031030|PMID:30630526|PMID:31721781|PMID:31874108|PMID:32546565|PMID:33471991|PMID:7689011|PMID:8128956|PMID:8844212|PMID:8882868|PMID:9521584|PMID:9616183 12370899 AOPEP aminopeptidase O (putative) gene DOID:1612 breast cancer ISO RGD:1320010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:08128956|PMID:08844212|PMID:09616183|PMID:14695169|PMID:15695377|PMID:16199547|PMID:17924555|PMID:20509860|PMID:21520333|PMID:21659346|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28492532|PMID:29654263|PMID:29922827|PMID:30031030|PMID:30630526|PMID:31721781|PMID:31874108|PMID:32546565|PMID:32885271|PMID:33471991|PMID:7689011|PMID:8128956|PMID:8844212|PMID:8882868|PMID:9521584|PMID:9616183 12370899 AOPEP aminopeptidase O (putative) gene DOID:2394 ovarian cancer ISO RGD:1320010 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 12370899 AOPEP aminopeptidase O (putative) gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1320010 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:17703323|PMID:17924555|PMID:22382802|PMID:28492532 12370899 AOPEP aminopeptidase O (putative) gene DOID:5426 primary ovarian insufficiency ISO RGD:1320010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12370899 AOPEP aminopeptidase O (putative) gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:32566746 12370899 AOPEP aminopeptidase O (putative) gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1320010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12370899 AOPEP aminopeptidase O (putative) gene DOID:9004381 Dystonia 31 ISO RGD:1320010 D RGD:7240710 20211124 OMIM 12370899 AOPEP aminopeptidase O (putative) gene DOID:9004381 Dystonia 31 ISO RGD:1320010 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dystonia 31 PMID:25741868|PMID:34596301 12370899 AOPEP aminopeptidase O (putative) gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320010 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15695377|PMID:16199547|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28767289|PMID:29641532|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30967997|PMID:31589614|PMID:31784482|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33471991|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9521584|PMID:9616183 12370899 AOPEP aminopeptidase O (putative) gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320010 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 12370899 AOPEP aminopeptidase O (putative) gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320010 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 12370916 SIGLEC1 sialic acid binding Ig like lectin 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1323674 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12370916 SIGLEC1 sialic acid binding Ig like lectin 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1323674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12370916 SIGLEC1 sialic acid binding Ig like lectin 1 gene DOID:630 genetic disease ISO RGD:1323674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370916 SIGLEC1 sialic acid binding Ig like lectin 1 gene DOID:9001488 Human Influenza ISO RGD:1323674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12370916 SIGLEC1 sialic acid binding Ig like lectin 1 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1323674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 12370947 SLC7A4 solute carrier family 7 member 4 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1314214 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12370947 SLC7A4 solute carrier family 7 member 4 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1314214 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12370947 SLC7A4 solute carrier family 7 member 4 gene DOID:1059 intellectual disability ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12370947 SLC7A4 solute carrier family 7 member 4 gene DOID:11198 DiGeorge syndrome ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:31690835|PMID:32581362 12370947 SLC7A4 solute carrier family 7 member 4 gene DOID:11372 megacolon ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12370947 SLC7A4 solute carrier family 7 member 4 gene DOID:12583 velocardiofacial syndrome ISO RGD:1314214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12370947 SLC7A4 solute carrier family 7 member 4 gene DOID:12849 autistic disorder ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12370947 SLC7A4 solute carrier family 7 member 4 gene DOID:1826 epilepsy ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12370947 SLC7A4 solute carrier family 7 member 4 gene DOID:5419 schizophrenia ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12370947 SLC7A4 solute carrier family 7 member 4 gene DOID:612 primary immunodeficiency disease ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12370947 SLC7A4 solute carrier family 7 member 4 gene DOID:630 genetic disease ISO RGD:1314214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370947 SLC7A4 solute carrier family 7 member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12370947 SLC7A4 solute carrier family 7 member 4 gene DOID:9007661 Dwarfism ISO RGD:1314214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12370958 THAP7 THAP domain containing 7 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1317614 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12370958 THAP7 THAP domain containing 7 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1317614 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12370958 THAP7 THAP domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1317614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12370958 THAP7 THAP domain containing 7 gene DOID:11198 DiGeorge syndrome ISO RGD:1317614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:31690835|PMID:32581362 12370958 THAP7 THAP domain containing 7 gene DOID:11372 megacolon ISO RGD:1317614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12370958 THAP7 THAP domain containing 7 gene DOID:12583 velocardiofacial syndrome ISO RGD:1317614 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12370958 THAP7 THAP domain containing 7 gene DOID:12849 autistic disorder ISO RGD:1317614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12370958 THAP7 THAP domain containing 7 gene DOID:1826 epilepsy ISO RGD:1317614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12370958 THAP7 THAP domain containing 7 gene DOID:5419 schizophrenia ISO RGD:1317614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12370958 THAP7 THAP domain containing 7 gene DOID:612 primary immunodeficiency disease ISO RGD:1317614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12370958 THAP7 THAP domain containing 7 gene DOID:630 genetic disease ISO RGD:1317614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370958 THAP7 THAP domain containing 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12370958 THAP7 THAP domain containing 7 gene DOID:9007661 Dwarfism ISO RGD:1317614 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12370967 DELE1 DAP3 binding cell death enhancer 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12370967 DELE1 DAP3 binding cell death enhancer 1 gene DOID:630 genetic disease ISO RGD:1353765 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12370967 DELE1 DAP3 binding cell death enhancer 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12370967 DELE1 DAP3 binding cell death enhancer 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12370988 NKD1 NKD inhibitor of WNT signaling pathway 1 gene DOID:0111122 nephronophthisis 14 ISO RGD:1318289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 12370988 NKD1 NKD inhibitor of WNT signaling pathway 1 gene DOID:630 genetic disease ISO RGD:1318289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371008 SLC30A4 solute carrier family 30 member 4 gene DOID:0050712 AGAT deficiency ISO RGD:1343503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 12371008 SLC30A4 solute carrier family 30 member 4 gene DOID:0060496 respiratory allergy ISO RGD:1343503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085522 12371008 SLC30A4 solute carrier family 30 member 4 gene DOID:0080600 COVID-19 ISO RGD:1343503 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12371008 SLC30A4 solute carrier family 30 member 4 gene DOID:10652 Alzheimer's disease ISO RGD:1343503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16580781 12371008 SLC30A4 solute carrier family 30 member 4 gene DOID:2717 Bloom syndrome ISO RGD:1343503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12371008 SLC30A4 solute carrier family 30 member 4 gene DOID:630 genetic disease ISO RGD:1343503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371008 SLC30A4 solute carrier family 30 member 4 gene DOID:8634 prostate carcinoma in situ ISO RGD:1343503 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:12955079|REF_RGD_ID:2299948 12371008 SLC30A4 solute carrier family 30 member 4 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1343503 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:12955079|REF_RGD_ID:2299948 12371008 SLC30A4 solute carrier family 30 member 4 gene DOID:9004009 Reperfusion Injury ISO RGD:619750 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:18289514|REF_RGD_ID:2299950 12371008 SLC30A4 solute carrier family 30 member 4 gene DOID:9256 colorectal cancer ISO RGD:1343503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12371020 NFASC neurofascin gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:733496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12371020 NFASC neurofascin gene DOID:12849 autistic disorder ISO RGD:733496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12371020 NFASC neurofascin gene DOID:1540 parathyroid carcinoma ISO RGD:733496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12371020 NFASC neurofascin gene DOID:630 genetic disease ISO RGD:733496 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12371020 NFASC neurofascin gene DOID:9003193 Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction ISO RGD:733496 D RGD:7240710 20190424 OMIM 12371020 NFASC neurofascin gene DOID:9003193 Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction ISO RGD:733496 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with central and peripheral motor dysfunction PMID:25741868|PMID:28940097|PMID:30124836|PMID:30850329|PMID:31501903 12371020 NFASC neurofascin gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:733496 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12371020 NFASC neurofascin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12371076 SLC14A1 solute carrier family 14 member 1 gene DOID:0060356 Vici syndrome ISO RGD:1354455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 12371076 SLC14A1 solute carrier family 14 member 1 gene DOID:1059 intellectual disability ISO RGD:1354455 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12371076 SLC14A1 solute carrier family 14 member 1 gene DOID:1098 fetal erythroblastosis ISO RGD:1354455 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: BLOOD GROUP--KIDD SYSTEM 12371076 SLC14A1 solute carrier family 14 member 1 gene DOID:630 genetic disease ISO RGD:1354455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371076 SLC14A1 solute carrier family 14 member 1 gene DOID:718 autoimmune hemolytic anemia ISO RGD:1354455 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6427987 12371076 SLC14A1 solute carrier family 14 member 1 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1354455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 12371099 G6PC3 glucose-6-phosphatase catalytic subunit 3 gene DOID:0050590 severe congenital neutropenia ISO RGD:735418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe congenital neutropenia 12371099 G6PC3 glucose-6-phosphatase catalytic subunit 3 gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:735418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 12371099 G6PC3 glucose-6-phosphatase catalytic subunit 3 gene DOID:0080600 COVID-19 ISO RGD:735418 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12371099 G6PC3 glucose-6-phosphatase catalytic subunit 3 gene DOID:0112136 severe congenital neutropenia 4 ISO RGD:735418 D RGD:7240710 20180130 OMIM 12371099 G6PC3 glucose-6-phosphatase catalytic subunit 3 gene DOID:0112136 severe congenital neutropenia 4 ISO RGD:735418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency PMID:16199547|PMID:17576681|PMID:19011569|PMID:19118303|PMID:19775295|PMID:20616219|PMID:20717171|PMID:20799326|PMID:21285905|PMID:21385794|PMID:22050868|PMID:22469094|PMID:23171239|PMID:23180359|PMID:23298686|PMID:23441086|PMID:23758768|PMID:24033266|PMID:24549407|PMID:24750412|PMID:25284454|PMID:25326635|PMID:25391451|PMID:25491320|PMID:25492228|PMID:25741868|PMID:27571123|PMID:27577878|PMID:27611587|PMID:28492532|PMID:31564432|PMID:9536098 12371099 G6PC3 glucose-6-phosphatase catalytic subunit 3 gene DOID:612 primary immunodeficiency disease ISO RGD:735418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12371099 G6PC3 glucose-6-phosphatase catalytic subunit 3 gene DOID:630 genetic disease ISO RGD:735418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12371114 PPIH peptidylprolyl isomerase H gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12371114 PPIH peptidylprolyl isomerase H gene DOID:630 genetic disease ISO RGD:1347300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371130 JPH2 junctophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1313081 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:22584458|PMID:23834499|PMID:24033266|PMID:25500949|PMID:25741868|PMID:28492532 12371130 JPH2 junctophilin 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1313081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25500949|PMID:25741868|PMID:28492532|PMID:30235249|PMID:30615648|PMID:33673806 12371130 JPH2 junctophilin 2 gene DOID:0081161 dilated cardiomyopathy 2E ISO RGD:1313081 D RGD:7240710 20210908 OMIM 12371130 JPH2 junctophilin 2 gene DOID:0081161 dilated cardiomyopathy 2E ISO RGD:1313081 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2E PMID:23861362|PMID:24033266|PMID:25741868|PMID:26718681|PMID:28254189|PMID:28492532|PMID:28771489|PMID:30384889|PMID:30615648|PMID:30847666|PMID:33500567 12371130 JPH2 junctophilin 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1313081 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:17509612|PMID:22389502|PMID:24033266|PMID:25500949|PMID:25741868|PMID:28492532|PMID:30615648 12371130 JPH2 junctophilin 2 gene DOID:0110323 hypertrophic cardiomyopathy 17 ISO RGD:1313081 D RGD:7240710 20180516 OMIM 12371130 JPH2 junctophilin 2 gene DOID:0110323 hypertrophic cardiomyopathy 17 ISO RGD:1313081 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 17 PMID:17476457|PMID:17509612|PMID:22389502|PMID:22584458|PMID:23757202|PMID:23861362|PMID:23973696|PMID:24033266|PMID:25333069|PMID:25741868|PMID:26718681|PMID:27532831|PMID:28087566|PMID:28254189|PMID:28492532|PMID:28771489|PMID:30384889|PMID:30615648|PMID:30847666|PMID:33500567|PMID:35026164 12371130 JPH2 junctophilin 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1313081 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17476457|PMID:17509612|PMID:17576681|PMID:22584458|PMID:23757202|PMID:23834499|PMID:23861362|PMID:23973696|PMID:24033266|PMID:25333069|PMID:25500949|PMID:25741868|PMID:26718681|PMID:27532831|PMID:28008999|PMID:28087566|PMID:28254189|PMID:28393127|PMID:28492532|PMID:28771489|PMID:30235249|PMID:30615648|PMID:30847666|PMID:31227780|PMID:32368696|PMID:32880476|PMID:33500567|PMID:33673806|PMID:34062390|PMID:35026164|PMID:9536098 12371130 JPH2 junctophilin 2 gene DOID:11984 hypertrophic cardiomyopathy disease_progression ISO RGD:1305196 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:20576937|REF_RGD_ID:6480270 12371130 JPH2 junctophilin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1313081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:30384889 12371130 JPH2 junctophilin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1313081 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:30384889|PMID:30615648 12371130 JPH2 junctophilin 2 gene DOID:2234 focal epilepsy ISO RGD:1313081 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12371130 JPH2 junctophilin 2 gene DOID:2843 long QT syndrome ISO RGD:1313081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12371130 JPH2 junctophilin 2 gene DOID:630 genetic disease ISO RGD:1313081 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28254189|PMID:28492532|PMID:28771489|PMID:30847666 12371130 JPH2 junctophilin 2 gene DOID:9000006 Supraventricular Tachycardia ISO RGD:1313081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:22584458|PMID:23834499|PMID:24033266|PMID:25741868|PMID:28492532 12371130 JPH2 junctophilin 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12371130 JPH2 junctophilin 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1313081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 12371130 JPH2 junctophilin 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1313081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy 12371143 TMEM223 transmembrane protein 223 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:2303656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12371143 TMEM223 transmembrane protein 223 gene DOID:1059 intellectual disability ISO RGD:2303656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12371143 TMEM223 transmembrane protein 223 gene DOID:630 genetic disease ISO RGD:2303656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371155 CFAP99 cilia and flagella associated protein 99 gene DOID:630 genetic disease ISO RGD:8695362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371203 C12H6orf89 chromosome 12 C6orf89 homolog gene DOID:0050553 JMP syndrome ISO RGD:1348833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12371203 C12H6orf89 chromosome 12 C6orf89 homolog gene DOID:630 genetic disease ISO RGD:1348833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371252 LAPTM4A lysosomal protein transmembrane 4 alpha gene DOID:630 genetic disease ISO RGD:1346215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371263 CTCFL CCCTC-binding factor like gene DOID:630 genetic disease ISO RGD:1313529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371278 MORN4 MORN repeat containing 4 gene DOID:630 genetic disease ISO RGD:1316472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371306 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:0050857 Perrault syndrome ISO RGD:1352732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:21464306|PMID:517579 12371306 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1352732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12371306 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12371306 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:0110842 Usher syndrome type 3B ISO RGD:1352732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 3B PMID:28492532 12371306 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:10003 sensorineural hearing loss ISO RGD:1352732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:28492532|PMID:31827252 12371306 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1352732 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12371306 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:9002768 Perrault Syndrome 2 ISO RGD:1352732 D RGD:7240710 20180130 OMIM 12371306 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:9002768 Perrault Syndrome 2 ISO RGD:1352732 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Perrault syndrome 2 PMID:21464306|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31449985|PMID:31486067|PMID:31827252|PMID:34416374|PMID:517579 12371306 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12371306 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12371331 CCT8 chaperonin containing TCP1 subunit 8 gene DOID:0080600 COVID-19 ISO RGD:1313488 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12371331 CCT8 chaperonin containing TCP1 subunit 8 gene DOID:630 genetic disease ISO RGD:1313488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371356 ADK adenosine kinase gene DOID:0060180 colitis ISO RGD:10091 D RGD:9068941 20200609 RGD PMID:11123368|REF_RGD_ID:6482664 12371356 ADK adenosine kinase gene DOID:0111038 hypermethioninemia due to adenosine kinase deficiency ISO RGD:737582 D RGD:7240710 20180130 OMIM 12371356 ADK adenosine kinase gene DOID:0111038 hypermethioninemia due to adenosine kinase deficiency ISO RGD:737582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8 PMID:21963049|PMID:25741868|PMID:26975589|PMID:28492532 12371356 ADK adenosine kinase gene DOID:1059 intellectual disability ISO RGD:737582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12371356 ADK adenosine kinase gene DOID:14115 toxic shock syndrome ISO RGD:10091 D RGD:9068941 20200609 RGD PMID:8207212|REF_RGD_ID:6482670 12371356 ADK adenosine kinase gene DOID:2316 brain ischemia ISO RGD:10091 D RGD:9068941 20200609 RGD PMID:17457365|PMID:21427729|REF_RGD_ID:6482652|REF_RGD_ID:6482655 12371356 ADK adenosine kinase gene DOID:3328 temporal lobe epilepsy ISO RGD:2046 D RGD:9068941 20200609 RGD PMID:21635241|REF_RGD_ID:6482302 12371356 ADK adenosine kinase gene DOID:3328 temporal lobe epilepsy ISO RGD:737582 D RGD:9068941 20200609 RGD PMID:21635241|REF_RGD_ID:6482302 12371356 ADK adenosine kinase gene DOID:3454 brain infarction ISO RGD:10091 D RGD:9068941 20200609 RGD PMID:16685255|REF_RGD_ID:6482657 12371356 ADK adenosine kinase gene DOID:3454 brain infarction ISO RGD:2046 D RGD:9068941 20200609 RGD PMID:9731623|REF_RGD_ID:6482667 12371356 ADK adenosine kinase gene DOID:630 genetic disease ISO RGD:737582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371356 ADK adenosine kinase gene DOID:9002211 Hyperalgesia ISO RGD:2046 D RGD:9068941 20200609 RGD PMID:11423084|REF_RGD_ID:6482662 12371356 ADK adenosine kinase gene DOID:9002211 Hyperalgesia ISO RGD:2046 D RGD:9068941 20200609 RGD associated with diabetic neuropathies; PMID:9932716|REF_RGD_ID:6482666 12371356 ADK adenosine kinase gene DOID:9002457 Experimental Arthritis ISO RGD:2046 D RGD:9068941 20200609 RGD PMID:11160636|REF_RGD_ID:6482663 12371356 ADK adenosine kinase gene DOID:9002669 Hypoxia ISO RGD:737582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 12371356 ADK adenosine kinase gene DOID:9003574 Congenital Visceral Steatosis ISO RGD:10091 D RGD:9068941 20200609 RGD PMID:11997462|REF_RGD_ID:1300259 12371356 ADK adenosine kinase gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2046 D RGD:9068941 20220616 RGD protein:decreased expression:brain: PMID:25720338|REF_RGD_ID:152995398 12371356 ADK adenosine kinase gene DOID:9005520 Genitopatellar Syndrome ISO RGD:737582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 12371356 ADK adenosine kinase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2046 D RGD:9068941 20200609 RGD protein:decreased expression:spleen, lymphocyte PMID:12729803|REF_RGD_ID:2313360 12371356 ADK adenosine kinase gene DOID:9006024 Hypotension ISO RGD:2046 D RGD:9068941 20200609 RGD PMID:9435554|REF_RGD_ID:6482668 12371356 ADK adenosine kinase gene DOID:9007402 Gliosis ISO RGD:10091 D RGD:9068941 20200609 RGD associated with status epilepticus;protein:increased expression:brain PMID:21964979|REF_RGD_ID:6482650 12371356 ADK adenosine kinase gene DOID:9008023 Memory Disorders ISO RGD:10091 D RGD:9068941 20200609 RGD PMID:22521820|REF_RGD_ID:6482646 12371356 ADK adenosine kinase gene DOID:9452 fatty liver disease ISO RGD:10091 D RGD:9068941 20220825 MouseDO OMIM:228100 12371390 VDAC2 voltage dependent anion channel 2 gene DOID:11832 visual epilepsy treatment ISO RGD:621576 D RGD:9068941 20200609 RGD PMID:17893921|REF_RGD_ID:10003051 12371390 VDAC2 voltage dependent anion channel 2 gene DOID:1749 squamous cell carcinoma ISO RGD:731822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12371390 VDAC2 voltage dependent anion channel 2 gene DOID:1826 epilepsy ISO RGD:731822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17893921 12371390 VDAC2 voltage dependent anion channel 2 gene DOID:3328 temporal lobe epilepsy ISO RGD:621576 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:18186018|REF_RGD_ID:10003053 12371390 VDAC2 voltage dependent anion channel 2 gene DOID:5844 myocardial infarction treatment ISO RGD:621576 D RGD:9068941 20200609 RGD PMID:20601275|REF_RGD_ID:10003049 12371390 VDAC2 voltage dependent anion channel 2 gene DOID:630 genetic disease ISO RGD:731822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371390 VDAC2 voltage dependent anion channel 2 gene DOID:8398 osteoarthritis ISO RGD:731822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12371390 VDAC2 voltage dependent anion channel 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:731822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19634143 12371390 VDAC2 voltage dependent anion channel 2 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:731822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 12371390 VDAC2 voltage dependent anion channel 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:731822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12371390 VDAC2 voltage dependent anion channel 2 gene DOID:9007730 Burns ISO RGD:621576 D RGD:9068941 20200609 RGD PMID:23863682|REF_RGD_ID:10003047 12371404 DAB2 DAB adaptor protein 2 gene DOID:0050758 metabolic acidosis ISO RGD:621007 D RGD:9068941 20220210 RGD protein:decreased expression:brush border membrane PMID:22357915|REF_RGD_ID:7243154 12371404 DAB2 DAB adaptor protein 2 gene DOID:5844 myocardial infarction ISO RGD:621007 D RGD:9068941 20220210 RGD PMID:20666606|REF_RGD_ID:7243158 12371404 DAB2 DAB adaptor protein 2 gene DOID:5844 myocardial infarction ISO RGD:621007 D RGD:9068941 20220210 RGD protein:increased expression:cardiomyocyte PMID:21762377|REF_RGD_ID:7243156 12371404 DAB2 DAB adaptor protein 2 gene DOID:630 genetic disease ISO RGD:30302009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371404 DAB2 DAB adaptor protein 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:621007 D RGD:9068941 20220210 RGD protein:increased expression:spinal cord PMID:17317100|REF_RGD_ID:7243246 12371404 DAB2 DAB adaptor protein 2 gene DOID:9000998 Brain Injuries ISO RGD:621007 D RGD:9068941 20220210 RGD PMID:15774263|REF_RGD_ID:7243841 12371404 DAB2 DAB adaptor protein 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:621007 D RGD:9068941 20220210 RGD PMID:21890121|REF_RGD_ID:7243155 12371404 DAB2 DAB adaptor protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:30302009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12371426 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:0060250 idiopathic scoliosis ISO RGD:733345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic scoliosis PMID:28492532|PMID:29240829 12371426 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:0060373 orofaciodigital syndrome III ISO RGD:733345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome III 12371426 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:0080365 endometrial hyperplasia ISO RGD:733345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22248470 12371426 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:733345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12371426 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:10908 hydrocephalus ISO RGD:736028 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 12371426 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:12849 autistic disorder ISO RGD:733345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12371426 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:3393 coronary artery disease ISO RGD:733345 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 12371426 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:630 genetic disease ISO RGD:733345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12371426 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:9008086 Developmental Disabilities ISO RGD:733345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:26539891 12371426 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:733345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 12371470 SCPEP1 serine carboxypeptidase 1 gene DOID:0050777 Joubert syndrome ISO RGD:1351146 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12371470 SCPEP1 serine carboxypeptidase 1 gene DOID:0080600 COVID-19 ISO RGD:1351146 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12371470 SCPEP1 serine carboxypeptidase 1 gene DOID:630 genetic disease ISO RGD:1351146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371487 METTL16 methyltransferase 16, N6-methyladenosine gene DOID:630 genetic disease ISO RGD:1604299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371487 METTL16 methyltransferase 16, N6-methyladenosine gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12371501 WDR44 WD repeat domain 44 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12371501 WDR44 WD repeat domain 44 gene DOID:12849 autistic disorder ISO RGD:1348946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12371501 WDR44 WD repeat domain 44 gene DOID:630 genetic disease ISO RGD:1348946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371531 MYCL MYCL proto-oncogene, bHLH transcription factor gene DOID:0050902 medulloblastoma ISO RGD:1346068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 12371531 MYCL MYCL proto-oncogene, bHLH transcription factor gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1346068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12371531 MYCL MYCL proto-oncogene, bHLH transcription factor gene DOID:5409 lung small cell carcinoma ISO RGD:1346068 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22941189 12371531 MYCL MYCL proto-oncogene, bHLH transcription factor gene DOID:630 genetic disease ISO RGD:1346068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371531 MYCL MYCL proto-oncogene, bHLH transcription factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26005866 12371569 PIAS3 protein inhibitor of activated STAT 3 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1344818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 12371569 PIAS3 protein inhibitor of activated STAT 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1344818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12371569 PIAS3 protein inhibitor of activated STAT 3 gene DOID:5419 schizophrenia ISO RGD:1344818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12371569 PIAS3 protein inhibitor of activated STAT 3 gene DOID:630 genetic disease ISO RGD:1344818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371569 PIAS3 protein inhibitor of activated STAT 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1344818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 12371569 PIAS3 protein inhibitor of activated STAT 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12371590 ZNF236 zinc finger protein 236 gene DOID:0050753 cerebellar ataxia ISO RGD:1320136 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 12371590 ZNF236 zinc finger protein 236 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1320136 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12371590 ZNF236 zinc finger protein 236 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1320136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 12371590 ZNF236 zinc finger protein 236 gene DOID:630 genetic disease ISO RGD:1320136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371590 ZNF236 zinc finger protein 236 gene DOID:6420 pulmonary valve stenosis ISO RGD:1320136 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12371590 ZNF236 zinc finger protein 236 gene DOID:8445 intestinal volvulus ISO RGD:1320136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12371590 ZNF236 zinc finger protein 236 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1320136 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 12371590 ZNF236 zinc finger protein 236 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12371590 ZNF236 zinc finger protein 236 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1320136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12371655 GPX3 glutathione peroxidase 3 gene DOID:0050860 colorectal adenoma ISO RGD:1343858 D RGD:9068941 20220407 RGD mRNA:decreased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 12371655 GPX3 glutathione peroxidase 3 gene DOID:0080199 colorectal carcinoma ISO RGD:1343858 D RGD:9068941 20220407 RGD mRNA:decreased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 12371655 GPX3 glutathione peroxidase 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343858 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12371655 GPX3 glutathione peroxidase 3 gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma treatment ISO RGD:1343858 D RGD:9068941 20220414 RGD associated with ethmoid sinus cancer and Neoplasm Metastasis PMID:29496492|REF_RGD_ID:151708712 12371655 GPX3 glutathione peroxidase 3 gene DOID:10534 stomach cancer ISO RGD:1343858 D RGD:9068941 20220324 RGD protein:decreased expression:stomach (human) PMID:20043075|REF_RGD_ID:151665486 12371655 GPX3 glutathione peroxidase 3 gene DOID:10534 stomach cancer disease_progression ISO RGD:1343858 D RGD:9068941 20220324 RGD protein:decreased expression:stomach (human) PMID:22843889|REF_RGD_ID:151665483 12371655 GPX3 glutathione peroxidase 3 gene DOID:10534 stomach cancer onset ISO RGD:1343858 D RGD:9068941 20220331 RGD DNA:hypermethylation PMID:30924352|REF_RGD_ID:151665514 12371655 GPX3 glutathione peroxidase 3 gene DOID:10534 stomach cancer susceptibility ISO RGD:1343858 D RGD:9068941 20220324 RGD DNA:SNPs:intron 1,3'utr: (rs3805435, rs3828599, rs2070593) (human) PMID:20576521|REF_RGD_ID:151665489 12371655 GPX3 glutathione peroxidase 3 gene DOID:10534 stomach cancer treatment ISO RGD:1343858 D RGD:9068941 20220331 RGD PMID:30114685|REF_RGD_ID:151665512 12371655 GPX3 glutathione peroxidase 3 gene DOID:1062 Fanconi syndrome ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9851889 12371655 GPX3 glutathione peroxidase 3 gene DOID:1184 nephrotic syndrome ISO RGD:1343858 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:12824952|REF_RGD_ID:1625122 12371655 GPX3 glutathione peroxidase 3 gene DOID:1289 neurodegenerative disease ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 12371655 GPX3 glutathione peroxidase 3 gene DOID:1324 lung cancer treatment ISO RGD:1343858 D RGD:9068941 20220414 RGD PMID:26767034|PMID:33255360|REF_RGD_ID:151708705|REF_RGD_ID:151708707 12371655 GPX3 glutathione peroxidase 3 gene DOID:14566 disease of cellular proliferation ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21684681 12371655 GPX3 glutathione peroxidase 3 gene DOID:1993 rectum cancer susceptibility ISO RGD:1343858 D RGD:9068941 20220331 RGD DNA:SNPs: (rs3828599, rs736775, rs8177447) (human) PMID:22371331|REF_RGD_ID:151665750 12371655 GPX3 glutathione peroxidase 3 gene DOID:219 colon cancer disease_progression ISO RGD:737382 D RGD:9068941 20220331 RGD associated with Experimental Colitis PMID:23221387|REF_RGD_ID:151665510 12371655 GPX3 glutathione peroxidase 3 gene DOID:2870 endometrial adenocarcinoma ISO RGD:69224 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium (rat) PMID:19426485|REF_RGD_ID:2312621 12371655 GPX3 glutathione peroxidase 3 gene DOID:289 endometriosis ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642|PMID:21063030 12371655 GPX3 glutathione peroxidase 3 gene DOID:299 adenocarcinoma ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 12371655 GPX3 glutathione peroxidase 3 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1343858 D RGD:9068941 20220331 RGD DNA:hypermethylation PMID:25050929|PMID:30018730|REF_RGD_ID:151665494|REF_RGD_ID:151665741 12371655 GPX3 glutathione peroxidase 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1343858 D RGD:9068941 20220414 RGD mRNA:decreased expression:lung (human) PMID:23374247|REF_RGD_ID:151708716 12371655 GPX3 glutathione peroxidase 3 gene DOID:4914 esophagus adenocarcinoma susceptibility ISO RGD:1343858 D RGD:9068941 20220630 RGD DNA:SNPs:intron: (rs4958872, rs3792797) (human) PMID:22715394|REF_RGD_ID:152995500 12371655 GPX3 glutathione peroxidase 3 gene DOID:4948 gallbladder carcinoma severity ISO RGD:1343858 D RGD:9068941 20220331 RGD protein:decreased expression:gallbladder (human) PMID:24167362|REF_RGD_ID:151665515 12371655 GPX3 glutathione peroxidase 3 gene DOID:5041 esophageal cancer treatment ISO RGD:1343858 D RGD:9068941 20220407 RGD DNA:hypermethylation PMID:33292587|REF_RGD_ID:151665781 12371655 GPX3 glutathione peroxidase 3 gene DOID:630 genetic disease ISO RGD:1343858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371655 GPX3 glutathione peroxidase 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1343858 D RGD:9068941 20220331 RGD DNA:hypermethylation PMID:25445749|REF_RGD_ID:151665509 12371655 GPX3 glutathione peroxidase 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1343858 D RGD:9068941 20220324 RGD mRNA,protein:decreased expression:liver, blood plasma (human) PMID:25333265|REF_RGD_ID:151665355 12371655 GPX3 glutathione peroxidase 3 gene DOID:7941 Barrett's adenocarcinoma ISO RGD:1343858 D RGD:9068941 20220324 RGD DNA:hypermethylation PMID:16229808|REF_RGD_ID:151665354 12371655 GPX3 glutathione peroxidase 3 gene DOID:7941 Barrett's adenocarcinoma ISO RGD:1343858 D RGD:9068941 20220630 RGD DNA:hypermethylation:promoter PMID:18664505|REF_RGD_ID:151665749 12371655 GPX3 glutathione peroxidase 3 gene DOID:850 lung disease ISO RGD:69224 D RGD:9068941 20200609 RGD mRNA:decreased expression:pneumocyte (rat) PMID:16049373|REF_RGD_ID:2312626 12371655 GPX3 glutathione peroxidase 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1343858 D RGD:9068941 20220324 RGD associated with stomach carcinoma; DNA:hypermethylation:promoter PMID:23071548|REF_RGD_ID:151665353 12371655 GPX3 glutathione peroxidase 3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1343858 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:serum (human) PMID:17269729|REF_RGD_ID:2312635 12371655 GPX3 glutathione peroxidase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17804715 12371655 GPX3 glutathione peroxidase 3 gene DOID:9005172 Lung Neoplasms ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19180532|PMID:21552421 12371655 GPX3 glutathione peroxidase 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343858 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12371655 GPX3 glutathione peroxidase 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20195826 12371655 GPX3 glutathione peroxidase 3 gene DOID:9007692 Insulin Resistance ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270708 12371655 GPX3 glutathione peroxidase 3 gene DOID:9206 Barrett's esophagus ISO RGD:1343858 D RGD:9068941 20220630 RGD DNA:hypermethylation:promoter PMID:18664505|REF_RGD_ID:151665749 12371655 GPX3 glutathione peroxidase 3 gene DOID:9351 diabetes mellitus ISO RGD:737382 D RGD:9068941 20200609 RGD PMID:18562625|REF_RGD_ID:2312633 12371655 GPX3 glutathione peroxidase 3 gene DOID:9351 diabetes mellitus ISO RGD:737382 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle (mouse) PMID:18936159|REF_RGD_ID:2312632 12371655 GPX3 glutathione peroxidase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343858 D RGD:9068941 20200609 RGD PMID:18936159|REF_RGD_ID:2312632 12371655 GPX3 glutathione peroxidase 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1343858 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (human) PMID:16489975|REF_RGD_ID:2312634 12371655 GPX3 glutathione peroxidase 3 gene DOID:9970 obesity ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11328671|PMID:19270708 12371655 GPX3 glutathione peroxidase 3 gene DOID:9970 obesity ISO RGD:69224 D RGD:9068941 20200609 RGD mRNA:decreased expression:adipose tissue (rat) PMID:19212806|REF_RGD_ID:2307430 12371655 GPX3 glutathione peroxidase 3 gene DOID:9970 obesity ISO RGD:737382 D RGD:9068941 20200609 RGD protein:decreased expression, activity:plasma (mouse) PMID:18562625|REF_RGD_ID:2312633 12371655 Gpx3 glutathione peroxidase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69224 D RGD:9068941 20200609 RGD protein, mRNA:decreased expression:kidney (rat) PMID:12753302|REF_RGD_ID:2312629 12371655 Gpx3 glutathione peroxidase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737382 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (mouse) PMID:16651743|REF_RGD_ID:2312631 12371664 LBR lamin B receptor gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:736984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome PMID:25741868|PMID:28492532|PMID:28600779|PMID:29068549 12371664 LBR lamin B receptor gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:736984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:25741868|PMID:28492532|PMID:28600779|PMID:29068549 12371664 LBR lamin B receptor gene DOID:0111588 Greenberg dysplasia ISO RGD:736984 D RGD:7240710 20180130 OMIM 12371664 LBR lamin B receptor gene DOID:0111588 Greenberg dysplasia ISO RGD:736984 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia PMID:14684697|PMID:18382993|PMID:20522425|PMID:21327084|PMID:23824842|PMID:24033266|PMID:25348816|PMID:25741868|PMID:26467025|PMID:27336722|PMID:27830109|PMID:27875746|PMID:28492532|PMID:30448303|PMID:30518689|PMID:30561119|PMID:32827848|PMID:34567078 12371664 LBR lamin B receptor gene DOID:12236 primary biliary cholangitis ISO RGD:736984 D RGD:9068941 20200609 RGD PMID:8550049|REF_RGD_ID:9588625 12371664 LBR lamin B receptor gene DOID:1540 parathyroid carcinoma ISO RGD:736984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12371664 LBR lamin B receptor gene DOID:1702 ichthyosis vulgaris ISO RGD:732448 D RGD:9068941 20220825 MouseDO OMIM:146700 12371664 LBR lamin B receptor gene DOID:614 lymphopenia ISO RGD:732448 D RGD:9068941 20200609 RGD DNA:point mutation PMID:22105998|REF_RGD_ID:11062006 12371664 LBR lamin B receptor gene DOID:630 genetic disease ISO RGD:736984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20522425|PMID:25741868|PMID:26467025|PMID:27875746|PMID:28492532 12371664 LBR lamin B receptor gene DOID:65 connective tissue disease ISO RGD:736984 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:26467025|PMID:27875746|PMID:28492532|PMID:32827848 12371664 LBR lamin B receptor gene DOID:9001031 Retrognathia ISO RGD:736984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retrognathia PMID:25741868|PMID:26938784 12371664 LBR lamin B receptor gene DOID:9003114 Reynolds Syndrome ISO RGD:736984 D RGD:7240710 20180130 OMIM 12371664 LBR lamin B receptor gene DOID:9003114 Reynolds Syndrome ISO RGD:736984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA | ClinVar Annotator: match by term: Reynolds syndrome PMID:18382993|PMID:20522425|PMID:24033266|PMID:25348816|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32827848 12371664 LBR lamin B receptor gene DOID:9006936 Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia ISO RGD:736984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia PMID:18382993|PMID:25348816|PMID:25741868|PMID:28492532 12371664 LBR lamin B receptor gene DOID:9009255 PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES ISO RGD:736984 D RGD:7240710 20190315 OMIM 12371664 LBR lamin B receptor gene DOID:9009255 PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES ISO RGD:736984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES | ClinVar Annotator: match by term: RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY PMID:18382993|PMID:23824842|PMID:25348816|PMID:25741868|PMID:28492532|PMID:28600779|PMID:29068549|PMID:30448303|PMID:32827848|PMID:34567078 12371664 LBR lamin B receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:732448 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12371664 LBR lamin B receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12371664 LBR lamin B receptor gene DOID:9631 Pelger-Huet anomaly ISO RGD:736984 D RGD:7240710 20180130 OMIM 12371664 LBR lamin B receptor gene DOID:9631 Pelger-Huet anomaly ISO RGD:736984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities | ClinVar Annotator: match by term: Pelger-Huet Anomaly | ClinVar Annotator: match by term: Pelger-Huët anomaly PMID:12118250|PMID:14617022|PMID:18382993|PMID:21327084|PMID:23824842|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26938784|PMID:27336722|PMID:27830109|PMID:28492532|PMID:30448303|PMID:32827848|PMID:34567078 12371664 LBR lamin B receptor gene DOID:9631 Pelger-Huet anomaly susceptibility ISO RGD:736984 D RGD:9068941 20200609 RGD DNA:splice-site mutations, frameshift mutations, nonsense mutations PMID:12118250|REF_RGD_ID:1600215 12371682 FGF13 fibroblast growth factor 13 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12371682 FGF13 fibroblast growth factor 13 gene DOID:1059 intellectual disability ISO RGD:1553609 D RGD:9068941 20220825 MouseDO 12371682 FGF13 fibroblast growth factor 13 gene DOID:12849 autistic disorder ISO RGD:733500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12371682 FGF13 fibroblast growth factor 13 gene DOID:1793 pancreatic cancer ISO RGD:733500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19917848 12371682 FGF13 fibroblast growth factor 13 gene DOID:9000663 Developmental and Epileptic Encephalopathy 90 ISO RGD:733500 D RGD:7240710 20210303 OMIM 12371682 FGF13 fibroblast growth factor 13 gene DOID:9000663 Developmental and Epileptic Encephalopathy 90 ISO RGD:733500 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 90 PMID:25741868|PMID:33245860|PMID:34871784 12371682 FGF13 fibroblast growth factor 13 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19917848 12371682 FGF13 fibroblast growth factor 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12371682 FGF13 fibroblast growth factor 13 gene DOID:9005113 X-Linked Intellectual Developmental Disorder 110 ISO RGD:733500 D RGD:7240710 20230125 OMIM 12371682 FGF13 fibroblast growth factor 13 gene DOID:9005113 X-Linked Intellectual Developmental Disorder 110 ISO RGD:733500 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 110 PMID:34184986 12371698 AQP6 aquaporin 6 gene DOID:630 genetic disease ISO RGD:737143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371706 CHCHD7 coiled-coil-helix-coiled-coil-helix domain containing 7 gene DOID:630 genetic disease ISO RGD:1347837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371715 C24H20orf173 chromosome 24 C20orf173 homolog gene DOID:630 genetic disease ISO RGD:1351674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371739 TOR1AIP1 torsin 1A interacting protein 1 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1607052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12371739 TOR1AIP1 torsin 1A interacting protein 1 gene DOID:0110289 autosomal recessive limb-girdle muscular dystrophy type 2Y ISO RGD:1607052 D RGD:7240710 20190315 OMIM 12371739 TOR1AIP1 torsin 1A interacting protein 1 gene DOID:0110289 autosomal recessive limb-girdle muscular dystrophy type 2Y ISO RGD:1607052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Y PMID:16199547|PMID:17576681|PMID:24856141|PMID:25193337|PMID:25741868|PMID:26436962|PMID:27342937|PMID:28492532|PMID:32055997|PMID:32190976|PMID:4856141|PMID:9536098 12371739 TOR1AIP1 torsin 1A interacting protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1607052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12371739 TOR1AIP1 torsin 1A interacting protein 1 gene DOID:630 genetic disease ISO RGD:1607052 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12371739 TOR1AIP1 torsin 1A interacting protein 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1607052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12371739 TOR1AIP1 torsin 1A interacting protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12371756 CASP14 caspase 14 gene DOID:630 genetic disease ISO RGD:1323414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371756 CASP14 caspase 14 gene DOID:9001703 Autosomal Recessive Congenital Ichthyosis 12 ISO RGD:1323414 D RGD:7240710 20190315 OMIM 12371756 CASP14 caspase 14 gene DOID:9001703 Autosomal Recessive Congenital Ichthyosis 12 ISO RGD:1323414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 12 PMID:25741868|PMID:27494380|PMID:28492532 12371766 CYB561 cytochrome b561 gene DOID:630 genetic disease ISO RGD:1322199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371766 CYB561 cytochrome b561 gene DOID:9009252 Orthostatic Hypotension 2 ISO RGD:1322199 D RGD:7240710 20190315 OMIM 12371766 CYB561 cytochrome b561 gene DOID:9009252 Orthostatic Hypotension 2 ISO RGD:1322199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orthostatic hypotension 2 12371781 ECHDC2 enoyl-CoA hydratase domain containing 2 gene DOID:630 genetic disease ISO RGD:1349844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371795 CPVL carboxypeptidase vitellogenic like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12371795 CPVL carboxypeptidase vitellogenic like gene DOID:630 genetic disease ISO RGD:1345667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371818 GMFG glia maturation factor gamma gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:736890 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12371818 GMFG glia maturation factor gamma gene DOID:630 genetic disease ISO RGD:736890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371818 GMFG glia maturation factor gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12371818 GMFG glia maturation factor gamma gene DOID:9352 type 2 diabetes mellitus ISO RGD:736890 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12371838 ATOH8 atonal bHLH transcription factor 8 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1350083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 12371838 ATOH8 atonal bHLH transcription factor 8 gene DOID:630 genetic disease ISO RGD:1350083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371838 ATOH8 atonal bHLH transcription factor 8 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12371844 ATP8B3 ATPase phospholipid transporting 8B3 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1316924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12371844 ATP8B3 ATPase phospholipid transporting 8B3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1316924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12371844 ATP8B3 ATPase phospholipid transporting 8B3 gene DOID:630 genetic disease ISO RGD:1316924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371844 ATP8B3 ATPase phospholipid transporting 8B3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12371873 CDK5RAP2 CDK5 regulatory subunit associated protein 2 gene DOID:0050569 Seckel syndrome ISO RGD:1347674 D RGD:9068941 20200609 RGD DNA:mutations:splice junction:c.383+1G>C,c.4005-9A>G(human) PMID:26436113|REF_RGD_ID:13450906 12371873 CDK5RAP2 CDK5 regulatory subunit associated protein 2 gene DOID:0070286 primary autosomal recessive microcephaly 3 ISO RGD:1347674 D RGD:7240710 20180130 OMIM 12371873 CDK5RAP2 CDK5 regulatory subunit associated protein 2 gene DOID:0070286 primary autosomal recessive microcephaly 3 ISO RGD:1347674 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly 3, primary, autosomal recessive PMID:10677332|PMID:15793586|PMID:17764569|PMID:18414213|PMID:20301772|PMID:20460369|PMID:22887808|PMID:23726037|PMID:23995685|PMID:25326637|PMID:25741868|PMID:26436113|PMID:27391121|PMID:27761245|PMID:28004182|PMID:28492532|PMID:30392784|PMID:31316545 12371873 CDK5RAP2 CDK5 regulatory subunit associated protein 2 gene DOID:1059 intellectual disability ISO RGD:1347674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12371873 CDK5RAP2 CDK5 regulatory subunit associated protein 2 gene DOID:10907 microcephaly ISO RGD:1347674 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive PMID:18414213|PMID:20301772|PMID:25741868|PMID:28492532|PMID:32581362 12371873 CDK5RAP2 CDK5 regulatory subunit associated protein 2 gene DOID:12270 coloboma ISO RGD:1347674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:28492532 12371873 CDK5RAP2 CDK5 regulatory subunit associated protein 2 gene DOID:630 genetic disease ISO RGD:1347674 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15793586|PMID:17576681|PMID:18414213|PMID:25741868|PMID:27761245|PMID:28492532|PMID:30392784|PMID:9536098 12371873 CDK5RAP2 CDK5 regulatory subunit associated protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1347674 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12371919 MBNL2 muscleblind like splicing regulator 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1315628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 12371919 MBNL2 muscleblind like splicing regulator 2 gene DOID:630 genetic disease ISO RGD:1315628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371919 MBNL2 muscleblind like splicing regulator 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1315628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12371956 BRS3 bombesin receptor subtype 3 gene DOID:0060022 CD40 ligand deficiency ISO RGD:733512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12371956 BRS3 bombesin receptor subtype 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12371956 BRS3 bombesin receptor subtype 3 gene DOID:0060825 Christianson syndrome ISO RGD:733512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12371956 BRS3 bombesin receptor subtype 3 gene DOID:10763 hypertension ISO RGD:733513 D RGD:9068941 20200609 RGD PMID:9367152|REF_RGD_ID:734661 12371956 BRS3 bombesin receptor subtype 3 gene DOID:12849 autistic disorder ISO RGD:733512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12371956 BRS3 bombesin receptor subtype 3 gene DOID:630 genetic disease ISO RGD:733512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371956 BRS3 bombesin receptor subtype 3 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:733512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12371956 BRS3 bombesin receptor subtype 3 gene DOID:9002916 Hyperphagia ISO RGD:733513 D RGD:9068941 20200609 RGD PMID:9367152|REF_RGD_ID:734661 12371956 BRS3 bombesin receptor subtype 3 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:733512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12371956 BRS3 bombesin receptor subtype 3 gene DOID:9007823 Chromosome Xq26.3 Duplication Syndrome ISO RGD:733512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome PMID:26935837 12371956 BRS3 bombesin receptor subtype 3 gene DOID:9970 obesity ISO RGD:733513 D RGD:9068941 20200609 RGD PMID:9367152|REF_RGD_ID:734661 12371962 FAM229B family with sequence similarity 229 member B gene DOID:630 genetic disease ISO RGD:2298836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12371983 VSTM4 V-set and transmembrane domain containing 4 gene DOID:11372 megacolon ISO RGD:1321317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12371983 VSTM4 V-set and transmembrane domain containing 4 gene DOID:5419 schizophrenia ISO RGD:1321317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12371983 VSTM4 V-set and transmembrane domain containing 4 gene DOID:630 genetic disease ISO RGD:1321317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372001 CEACAM19 CEA cell adhesion molecule 19 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1601983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12372001 CEACAM19 CEA cell adhesion molecule 19 gene DOID:630 genetic disease ISO RGD:1601983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372012 BTBD18 BTB domain containing 18 gene DOID:1059 intellectual disability ISO RGD:2923345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12372012 BTBD18 BTB domain containing 18 gene DOID:630 genetic disease ISO RGD:2923345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372035 ANAPC2 anaphase promoting complex subunit 2 gene DOID:0050777 Joubert syndrome ISO RGD:2292188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12372035 ANAPC2 anaphase promoting complex subunit 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:2292188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12372035 ANAPC2 anaphase promoting complex subunit 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:2292188 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12372035 ANAPC2 anaphase promoting complex subunit 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:2292188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12372035 ANAPC2 anaphase promoting complex subunit 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:2292188 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12372035 ANAPC2 anaphase promoting complex subunit 2 gene DOID:0081097 Rafiq syndrome ISO RGD:2292188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12372035 ANAPC2 anaphase promoting complex subunit 2 gene DOID:1826 epilepsy ISO RGD:2292188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12372035 ANAPC2 anaphase promoting complex subunit 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:2292188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12372074 TBXT T-box transcription factor T gene DOID:0080074 neural tube defect ISO RGD:1320869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: Neural tube defects, susceptibility to PMID:10332959|PMID:10817656|PMID:12116228|PMID:15449172|PMID:25741868|PMID:8733136 12372074 TBXT T-box transcription factor T gene DOID:0080074 neural tube defect susceptibility ISO RGD:1320869 D RGD:7240710 20230517 OMIM 12372074 TBXT T-box transcription factor T gene DOID:0081205 autosomal recessive intellectual developmental disorder 40 ISO RGD:1320869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 40 PMID:25741868 12372074 TBXT T-box transcription factor T gene DOID:3302 chordoma ISO RGD:1320869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19801981|PMID:23064415 12372074 TBXT T-box transcription factor T gene DOID:630 genetic disease ISO RGD:1320869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372074 TBXT T-box transcription factor T gene DOID:9004975 Sacral Agenesis with Vertebral Anomalies ISO RGD:1320869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sacral agenesis with vertebral anomalies PMID:24253444|PMID:25741868 12372074 TBXT T-box transcription factor T gene DOID:9004975 Sacral Agenesis with Vertebral Anomalies susceptibility ISO RGD:1320869 D RGD:7240710 20230517 OMIM 12372085 ITGB2 integrin subunit beta 2 gene DOID:0040084 Streptococcus pneumonia susceptibility ISO RGD:1313695 D RGD:9068941 20210709 RGD PMID:11390487|REF_RGD_ID:127345090 12372085 ITGB2 integrin subunit beta 2 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1313694 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 12372085 ITGB2 integrin subunit beta 2 gene DOID:0060180 colitis ISO RGD:1313695 D RGD:9068941 20200609 RGD associated with Spirochaetales infections PMID:11031123|REF_RGD_ID:6482227 12372085 ITGB2 integrin subunit beta 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16764927 12372085 ITGB2 integrin subunit beta 2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1313694 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12372085 ITGB2 integrin subunit beta 2 gene DOID:0110266 cataract 9 multiple types ISO RGD:1313694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12372085 ITGB2 integrin subunit beta 2 gene DOID:0110910 leukocyte adhesion deficiency 1 IAGP D RGD:12801476 20210603 OMIA Leukocyte adhesion deficiency, type I PMID:1352926|PMID:8291207|PMID:10512685|PMID:10907223|PMID:11105214|PMID:11873952|PMID:12322699|PMID:15911095|PMID:18157138|PMID:15357315|PMID:16130481|PMID:15260444|PMID:15080489|PMID:12963272|PMID:21275758|PMID:21228879|PMID:20859258|PMID:20164857|PMID:19203720|PMID:18369320|PMID:23417082|PMID:27722179|PMID:32189222 12372085 ITGB2 integrin subunit beta 2 gene DOID:0110910 leukocyte adhesion deficiency 1 ISO RGD:1313694 D RGD:7240710 20180130 OMIM 12372085 ITGB2 integrin subunit beta 2 gene DOID:0110910 leukocyte adhesion deficiency 1 ISO RGD:1313694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 PMID:10886250|PMID:11703376|PMID:11882363|PMID:12377933|PMID:12488604|PMID:1346132|PMID:1346613|PMID:1347532|PMID:1590804|PMID:16199547|PMID:16595236|PMID:1694220|PMID:17576681|PMID:17875809|PMID:18675632|PMID:19171538|PMID:1968911|PMID:20549317|PMID:20807363|PMID:21103413|PMID:21195692|PMID:22134107|PMID:24033266|PMID:24338230|PMID:25135596|PMID:25514840|PMID:25703682|PMID:25741868|PMID:25858935|PMID:26497373|PMID:26639818|PMID:27492259|PMID:28445705|PMID:28492532|PMID:30412664|PMID:30919141|PMID:32279896|PMID:33391282|PMID:36353617|PMID:6142255|PMID:7143170|PMID:7686755|PMID:7705401|PMID:9536098|PMID:9884339 12372085 ITGB2 integrin subunit beta 2 gene DOID:0110910 leukocyte adhesion deficiency 1 susceptibility ISO RGD:1313694 D RGD:9068941 20210702 RGD DNA:polymorphisms:multiple (human) PMID:20549317|REF_RGD_ID:6482224 12372085 ITGB2 integrin subunit beta 2 gene DOID:10952 nephritis treatment ISO RGD:1305581 D RGD:9068941 20200609 RGD PMID:8773354|REF_RGD_ID:8547716 12372085 ITGB2 integrin subunit beta 2 gene DOID:1205 allergic disease ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12372085 ITGB2 integrin subunit beta 2 gene DOID:12297 Vogt-Koyanagi-Harada disease ISO RGD:1313694 D RGD:9068941 20200609 RGD protein:decreased expression:T cell PMID:21297967|REF_RGD_ID:6482200 12372085 ITGB2 integrin subunit beta 2 gene DOID:12849 autistic disorder ISO RGD:1313694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12372085 ITGB2 integrin subunit beta 2 gene DOID:13241 Behcet's disease ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8712863 12372085 ITGB2 integrin subunit beta 2 gene DOID:182 calcinosis ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12372085 ITGB2 integrin subunit beta 2 gene DOID:2527 nephrosis ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12845231 12372085 ITGB2 integrin subunit beta 2 gene DOID:2723 dermatitis ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9653089 12372085 ITGB2 integrin subunit beta 2 gene DOID:2921 glomerulonephritis ISO RGD:1313695 D RGD:9068941 20200609 RGD PMID:15277234|PMID:19752320|REF_RGD_ID:6907051|REF_RGD_ID:6907066 12372085 ITGB2 integrin subunit beta 2 gene DOID:4079 heart valve disease ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 12372085 ITGB2 integrin subunit beta 2 gene DOID:4247 coronary restenosis ISO RGD:1313694 D RGD:9068941 20200609 RGD PMID:11703955|REF_RGD_ID:1581185 12372085 ITGB2 integrin subunit beta 2 gene DOID:4481 allergic rhinitis treatment ISO RGD:1305581 D RGD:9068941 20210709 RGD PMID:12046991|REF_RGD_ID:9698435 12372085 ITGB2 integrin subunit beta 2 gene DOID:4989 pancreatitis ISO RGD:1313695 D RGD:9068941 20200609 RGD PMID:22490516|REF_RGD_ID:6482196 12372085 ITGB2 integrin subunit beta 2 gene DOID:552 pneumonia ISO RGD:1305581 D RGD:9068941 20200609 RGD PMID:10030843|REF_RGD_ID:6482228 12372085 ITGB2 integrin subunit beta 2 gene DOID:552 pneumonia ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12372085 ITGB2 integrin subunit beta 2 gene DOID:630 genetic disease ISO RGD:1313694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10886250|PMID:11703376|PMID:12488604|PMID:1346132|PMID:17875809|PMID:22134107|PMID:25514840|PMID:25703682|PMID:25741868|PMID:28492532|PMID:30412664|PMID:7143170|PMID:7686755|PMID:7705401 12372085 ITGB2 integrin subunit beta 2 gene DOID:6612 leukocyte adhesion deficiency ISO RGD:1313694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 12372085 ITGB2 integrin subunit beta 2 gene DOID:820 myocarditis ISO RGD:1313694 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9556870|REF_RGD_ID:13702915 12372085 ITGB2 integrin subunit beta 2 gene DOID:8283 peritonitis ameliorates ISO RGD:620535 D RGD:9068941 20210709 RGD PMID:18239087|REF_RGD_ID:127345091 12372085 ITGB2 integrin subunit beta 2 gene DOID:8549 chronic ulcer of skin ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9653089 12372085 ITGB2 integrin subunit beta 2 gene DOID:8893 psoriasis ISO RGD:1313695 D RGD:9068941 20200609 RGD PMID:19812597|REF_RGD_ID:6482221 12372085 ITGB2 integrin subunit beta 2 gene DOID:8893 psoriasis ISO RGD:1313695 D RGD:9068941 20220825 MouseDO OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106 12372085 ITGB2 integrin subunit beta 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1313694 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12372085 ITGB2 integrin subunit beta 2 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:1313694 D RGD:9068941 20200609 RGD mRNA:increased expression:artery PMID:26188538|REF_RGD_ID:11085957 12372085 ITGB2 integrin subunit beta 2 gene DOID:9000509 Epstein-Barr Virus Infections ISO RGD:1313694 D RGD:9068941 20210702 RGD associated with Hodgkin's lymphoma;mRNA, protein:increased expression:lymph node (human) PMID:25041527|REF_RGD_ID:127285814 12372085 ITGB2 integrin subunit beta 2 gene DOID:9001004 Chronic Periodontitis ISO RGD:1313694 D RGD:9068941 20200609 RGD mRNA:increased expression:gingival tissues PMID:21382035|REF_RGD_ID:6480655 12372085 ITGB2 integrin subunit beta 2 gene DOID:9001341 Chloracne ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12372085 ITGB2 integrin subunit beta 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12372085 ITGB2 integrin subunit beta 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:1313695 D RGD:9068941 20200609 RGD PMID:11907109|REF_RGD_ID:6907072 12372085 ITGB2 integrin subunit beta 2 gene DOID:9002457 Experimental Arthritis ISO RGD:1305581 D RGD:9068941 20200609 RGD PMID:8881759|REF_RGD_ID:6482229 12372085 ITGB2 integrin subunit beta 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1313695 D RGD:9068941 20200609 RGD PMID:18615643|REF_RGD_ID:6482197 12372085 ITGB2 integrin subunit beta 2 gene DOID:9002805 Enterocolitis ISO RGD:1313694 D RGD:9068941 20200609 RGD associated with Hirschsprung Disease;DNA:polymorphisms:multiple PMID:18675632|REF_RGD_ID:6482226 12372085 ITGB2 integrin subunit beta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12372085 ITGB2 integrin subunit beta 2 gene DOID:9004610 Acute Lung Injury ISO RGD:1305581 D RGD:9068941 20200609 RGD PMID:1374449|REF_RGD_ID:6482199 12372085 ITGB2 integrin subunit beta 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1305581 D RGD:9068941 20200609 RGD PMID:11007822|REF_RGD_ID:6907073 12372085 ITGB2 integrin subunit beta 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1313694 D RGD:9068941 20200609 RGD Associated with renal transplant patients PMID:20504838|REF_RGD_ID:6907049 12372085 ITGB2 integrin subunit beta 2 gene DOID:9007502 Brain Neoplasms ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 12372085 ITGB2 integrin subunit beta 2 gene DOID:9009184 Eosinophilic Myocarditis treatment ISO RGD:1313695 D RGD:9068941 20200609 RGD PMID:9822282|REF_RGD_ID:13702914 12372085 ITGB2 integrin subunit beta 2 gene DOID:9065 leishmaniasis ameliorates ISO RGD:1313695 D RGD:9068941 20210702 RGD PMID:14502280|REF_RGD_ID:127285813 12372085 ITGB2 integrin subunit beta 2 gene DOID:9263 homocystinuria ISO RGD:1313694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12372085 ITGB2 integrin subunit beta 2 gene DOID:9498 pulmonary eosinophilia ISO RGD:1313695 D RGD:9068941 20210709 RGD protein:increased expression:lung (mouse) PMID:7743671|REF_RGD_ID:8547590 12372085 ITGB2 integrin subunit beta 2 gene DOID:9500 leukocyte disease ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2880869|PMID:9653089 12372085 ITGB2 integrin subunit beta 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313694 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12372111 RSBN1 round spermatid basic protein 1 gene DOID:0080690 RASopathy ISO RGD:1347428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12372111 RSBN1 round spermatid basic protein 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1347428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 12372111 RSBN1 round spermatid basic protein 1 gene DOID:630 genetic disease ISO RGD:1347428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372122 AUH AU RNA binding methylglutaconyl-CoA hydratase gene DOID:0110002 3-methylglutaconic aciduria type 1 ISO RGD:1314501 D RGD:7240710 20180130 OMIM 12372122 AUH AU RNA binding methylglutaconyl-CoA hydratase gene DOID:0110002 3-methylglutaconic aciduria type 1 ISO RGD:1314501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 PMID:10070612|PMID:10626578|PMID:10896289|PMID:12434311|PMID:12655555|PMID:15033206|PMID:16199547|PMID:16354225|PMID:16640564|PMID:17130438|PMID:17576681|PMID:20855850|PMID:20882351|PMID:21840233|PMID:24598254|PMID:25741868|PMID:28438368|PMID:28492532|PMID:32778825|PMID:6181239|PMID:9536098 12372122 AUH AU RNA binding methylglutaconyl-CoA hydratase gene DOID:447 renal tubular transport disease susceptibility ISO RGD:1314501 D RGD:9068941 20200609 RGD DNA:nonsense mutation,splice-site mutation:R197X,VS8-1G-->A;3-methylglutaconic aciduria type I,OMIM:250950 PMID:12434311|REF_RGD_ID:1599425 12372122 AUH AU RNA binding methylglutaconyl-CoA hydratase gene DOID:630 genetic disease ISO RGD:1314501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12372141 ADTRP androgen dependent TFPI regulating protein gene DOID:3393 coronary artery disease ISO RGD:1313849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378986 12372141 ADTRP androgen dependent TFPI regulating protein gene DOID:630 genetic disease ISO RGD:1313849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372152 SYNM synemin gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1354169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 12372152 SYNM synemin gene DOID:630 genetic disease ISO RGD:1354169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372165 PSMA6 proteasome 20S subunit alpha 6 gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:736338 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:28492532 12372165 PSMA6 proteasome 20S subunit alpha 6 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:736338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12372165 PSMA6 proteasome 20S subunit alpha 6 gene DOID:5844 myocardial infarction ISO RGD:736338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:16845397|PMID:19282875 12372165 PSMA6 proteasome 20S subunit alpha 6 gene DOID:5844 myocardial infarction susceptibility ISO RGD:736338 D RGD:7240710 20190502 OMIM 12372165 PSMA6 proteasome 20S subunit alpha 6 gene DOID:630 genetic disease ISO RGD:736338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372165 PSMA6 proteasome 20S subunit alpha 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:736338 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12372179 CDKL1 cyclin dependent kinase like 1 gene DOID:630 genetic disease ISO RGD:1312899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372220 SGSM3 small G protein signaling modulator 3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1353613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12372220 SGSM3 small G protein signaling modulator 3 gene DOID:630 genetic disease ISO RGD:1353613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372255 KRT76 keratin 76 gene DOID:630 genetic disease ISO RGD:1605387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372266 INTS12 integrator complex subunit 12 gene DOID:630 genetic disease ISO RGD:1601748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372284 NNMT nicotinamide N-methyltransferase gene DOID:1059 intellectual disability ISO RGD:1320034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12372284 NNMT nicotinamide N-methyltransferase gene DOID:4450 renal cell carcinoma ISO RGD:1320034 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:17070307|REF_RGD_ID:2299120 12372284 NNMT nicotinamide N-methyltransferase gene DOID:630 genetic disease ISO RGD:1320034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372284 NNMT nicotinamide N-methyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:1320034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12372284 NNMT nicotinamide N-methyltransferase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12372291 IZUMO1R IZUMO1 receptor, JUNO gene DOID:1059 intellectual disability ISO RGD:2303851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12372291 IZUMO1R IZUMO1 receptor, JUNO gene DOID:630 genetic disease ISO RGD:2303851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372311 MGARP mitochondria localized glutamic acid rich protein gene DOID:630 genetic disease ISO RGD:1603194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372311 MGARP mitochondria localized glutamic acid rich protein gene DOID:7148 rheumatoid arthritis ISO RGD:1603194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 12372327 ISX intestine specific homeobox gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1605896 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35687267 12372327 ISX intestine specific homeobox gene DOID:630 genetic disease ISO RGD:1605896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372333 TMEM200B transmembrane protein 200B gene DOID:630 genetic disease ISO RGD:1606080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372342 RNASET2 ribonuclease T2 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1320518 D RGD:9068941 20220721 RGD human cells in mouse model PMID:27014725|REF_RGD_ID:153002831 12372342 RNASET2 ribonuclease T2 gene DOID:0081007 RNASET2-deficient cystic leukoencephalopathy ISO RGD:1320518 D RGD:7240710 20180130 OMIM 12372342 RNASET2 ribonuclease T2 gene DOID:0081007 RNASET2-deficient cystic leukoencephalopathy ISO RGD:1320518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystic leukoencephalopathy without megalencephaly PMID:19525954|PMID:25741868|PMID:28492532 12372342 RNASET2 ribonuclease T2 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1320518 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 12372342 RNASET2 ribonuclease T2 gene DOID:12361 Graves' disease ISO RGD:1320518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21841780 12372342 RNASET2 ribonuclease T2 gene DOID:1324 lung cancer ISO RGD:1320518 D RGD:9068941 20220721 RGD DNA:SNP:intergenic:rs444210 (human) PMID:29193083|REF_RGD_ID:153297750 12372342 RNASET2 ribonuclease T2 gene DOID:1909 melanoma ISO RGD:1320518 D RGD:9068941 20220721 RGD human cells in mouse model PMID:27014725|REF_RGD_ID:153002831 12372342 RNASET2 ribonuclease T2 gene DOID:219 colon cancer ISO RGD:1320519 D RGD:9068941 20220721 RGD PMID:32197460|REF_RGD_ID:153002804 12372342 RNASET2 ribonuclease T2 gene DOID:234 colon adenocarcinoma ISO RGD:1320518 D RGD:9068941 20220721 RGD human cells in mouse model PMID:30842415|REF_RGD_ID:153002829 12372342 RNASET2 ribonuclease T2 gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:1320518 D RGD:9068941 20220721 RGD mRNA, protein:decreased expression:stomach (human) PMID:32528897|REF_RGD_ID:153002801 12372342 RNASET2 ribonuclease T2 gene DOID:3883 Lynch syndrome ISO RGD:1320518 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 12372342 RNASET2 ribonuclease T2 gene DOID:5410 pulmonary neuroendocrine tumor ISO RGD:1320518 D RGD:9068941 20220721 RGD mRNA:increased expression:lung (human) PMID:29763721|REF_RGD_ID:153002569 12372342 RNASET2 ribonuclease T2 gene DOID:630 genetic disease ISO RGD:1320518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12372342 RNASET2 ribonuclease T2 gene DOID:9005172 Lung Neoplasms ISO RGD:1320518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28604730 12372342 RNASET2 ribonuclease T2 gene DOID:936 brain disease ISO RGD:1320518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19525954 12372373 INSYN1 inhibitory synaptic factor 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:2298735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12372373 INSYN1 inhibitory synaptic factor 1 gene DOID:2717 Bloom syndrome ISO RGD:2298735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12372373 INSYN1 inhibitory synaptic factor 1 gene DOID:3320 Tay-Sachs disease ISO RGD:2298735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 12372373 INSYN1 inhibitory synaptic factor 1 gene DOID:5419 schizophrenia ISO RGD:2298735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12372373 INSYN1 inhibitory synaptic factor 1 gene DOID:9256 colorectal cancer ISO RGD:2298735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12372381 ZNF285 zinc finger protein 285 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1342926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12372381 ZNF285 zinc finger protein 285 gene DOID:630 genetic disease ISO RGD:1342926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372391 NR0B1 nuclear receptor subfamily 0 group B member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12372391 NR0B1 nuclear receptor subfamily 0 group B member 1 gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1350844 D RGD:7240710 20180130 OMIM 12372391 NR0B1 nuclear receptor subfamily 0 group B member 1 gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1350844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenal hypoplasia, congenital | ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:10210708|PMID:10361383|PMID:10522996|PMID:10599709|PMID:10675358|PMID:10848616|PMID:11113848|PMID:11443184|PMID:11549627|PMID:11738790|PMID:11748841|PMID:11788621|PMID:12519885|PMID:12629128|PMID:15841486|PMID:16459121|PMID:16684822|PMID:17164309|PMID:17504899|PMID:17576681|PMID:17587282|PMID:18339285|PMID:19672728|PMID:20573681|PMID:20685758|PMID:21408189|PMID:21739173|PMID:21925982|PMID:22761912|PMID:23018754|PMID:23384712|PMID:23512386|PMID:25741868|PMID:26467025|PMID:26500747|PMID:26980296|PMID:28492532|PMID:28546232|PMID:31263616|PMID:34193132|PMID:6891556|PMID:7609262|PMID:7990953|PMID:7990958|PMID:8636263|PMID:8855822|PMID:9003500|PMID:9063431|PMID:9195207|PMID:9360549|PMID:9415399|PMID:9536098 12372391 NR0B1 nuclear receptor subfamily 0 group B member 1 gene DOID:0111777 46,XY sex reversal 2 ISO RGD:1350844 D RGD:7240710 20180130 OMIM 12372391 NR0B1 nuclear receptor subfamily 0 group B member 1 gene DOID:0111777 46,XY sex reversal 2 ISO RGD:1350844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 2 PMID:9486644 12372391 NR0B1 nuclear receptor subfamily 0 group B member 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1350844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 12372391 NR0B1 nuclear receptor subfamily 0 group B member 1 gene DOID:12849 autistic disorder ISO RGD:1350844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12372391 NR0B1 nuclear receptor subfamily 0 group B member 1 gene DOID:14228 oligospermia ISO RGD:1350844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23384712 12372391 NR0B1 nuclear receptor subfamily 0 group B member 1 gene DOID:1924 hypogonadism ISO RGD:1350844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7990958 12372391 NR0B1 nuclear receptor subfamily 0 group B member 1 gene DOID:630 genetic disease ISO RGD:1350844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12372391 NR0B1 nuclear receptor subfamily 0 group B member 1 gene DOID:9003809 Isolated Mineralocorticoid Deficiency ISO RGD:1350844 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mineralocorticoid deficiency, isolated PMID:17164309|PMID:25741868 12372391 NR0B1 nuclear receptor subfamily 0 group B member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12372391 NR0B1 nuclear receptor subfamily 0 group B member 1 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1350844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 12372397 ZNF140 zinc finger protein 140 gene DOID:630 genetic disease ISO RGD:1351095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372397 ZNF140 zinc finger protein 140 gene DOID:9256 colorectal cancer ISO RGD:1351095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 12372431 ADGRL4 adhesion G protein-coupled receptor L4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1347532 D RGD:9068941 20200609 RGD protein:decreased expression:heart: PMID:22606234|REF_RGD_ID:13838662 12372431 ADGRL4 adhesion G protein-coupled receptor L4 gene DOID:3068 glioblastoma severity ISO RGD:1347532 D RGD:9068941 20200609 RGD PMID:23096411|REF_RGD_ID:13838665 12372431 ADGRL4 adhesion G protein-coupled receptor L4 gene DOID:3068 glioblastoma severity ISO RGD:621136 D RGD:9068941 20200609 RGD PMID:23096411|REF_RGD_ID:13838665 12372431 ADGRL4 adhesion G protein-coupled receptor L4 gene DOID:3068 glioblastoma treatment ISO RGD:732484 D RGD:9068941 20200609 RGD PMID:27416955|REF_RGD_ID:13838664 12372431 ADGRL4 adhesion G protein-coupled receptor L4 gene DOID:630 genetic disease ISO RGD:1347532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372431 ADGRL4 adhesion G protein-coupled receptor L4 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:732484 D RGD:9068941 20200609 RGD PMID:22606234|REF_RGD_ID:13838662 12372499 BGN biglycan gene DOID:0050454 periventricular nodular heterotopia ISO RGD:737524 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12372499 BGN biglycan gene DOID:0050476 Barth syndrome ISO RGD:737524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12372499 BGN biglycan gene DOID:0050800 creatine transporter deficiency ISO RGD:737524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12372499 BGN biglycan gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12372499 BGN biglycan gene DOID:0111861 Meester-Loeys syndrome ISO RGD:737524 D RGD:7240710 20200619 OMIM 12372499 BGN biglycan gene DOID:0111861 Meester-Loeys syndrome ISO RGD:737524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meester-Loeys syndrome PMID:25741868|PMID:27632686|PMID:28492532 12372499 BGN biglycan gene DOID:0112003 immunodeficiency 33 ISO RGD:737524 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12372499 BGN biglycan gene DOID:0112150 X-linked spondyloepimetaphyseal dysplasia ISO RGD:737524 D RGD:7240710 20190315 OMIM 12372499 BGN biglycan gene DOID:0112150 X-linked spondyloepimetaphyseal dysplasia ISO RGD:737524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked spondyloepimetaphyseal dysplasia PMID:25741868|PMID:27236923|PMID:28492532|PMID:8064814 12372499 BGN biglycan gene DOID:10588 adrenoleukodystrophy ISO RGD:737524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12372499 BGN biglycan gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:737524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12372499 BGN biglycan gene DOID:12849 autistic disorder ISO RGD:737524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12372499 BGN biglycan gene DOID:13628 favism ISO RGD:737524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12372499 BGN biglycan gene DOID:14004 thoracic aortic aneurysm ISO RGD:737524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:27632686 12372499 BGN biglycan gene DOID:2729 dyskeratosis congenita ISO RGD:737524 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12372499 BGN biglycan gene DOID:607 paraplegia ISO RGD:737524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12372499 BGN biglycan gene DOID:630 genetic disease ISO RGD:737524 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12372499 BGN biglycan gene DOID:7148 rheumatoid arthritis ISO RGD:737524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292528 12372499 BGN biglycan gene DOID:9000918 Disease Progression ISO RGD:737524 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35234341 12372499 BGN biglycan gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12372499 BGN biglycan gene DOID:9002720 Splenomegaly ISO RGD:737524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12372499 BGN biglycan gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737524 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35234341 12372499 BGN biglycan gene DOID:9008939 Breast Neoplasms ISO RGD:737524 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35234341 12372510 TCP11L2 t-complex 11 like 2 gene DOID:630 genetic disease ISO RGD:1605554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372527 MRPL30 mitochondrial ribosomal protein L30 gene DOID:630 genetic disease ISO RGD:1317834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372541 ZNF800 zinc finger protein 800 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12372541 ZNF800 zinc finger protein 800 gene DOID:630 genetic disease ISO RGD:1603887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372563 WBP4 WW domain binding protein 4 gene DOID:630 genetic disease ISO RGD:1348548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372577 PCOLCE2 procollagen C-endopeptidase enhancer 2 gene DOID:630 genetic disease ISO RGD:1346123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372577 PCOLCE2 procollagen C-endopeptidase enhancer 2 gene DOID:670 amphetamine abuse ISO RGD:1346123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:0014667 disease of metabolism ISO RGD:621725 D RGD:9068941 20200609 RGD Acute Lysosomal Thesaurismosis;protein: increased expression:kidney proximal tubule epithelial cell, lysosome (rat) PMID:10469394|REF_RGD_ID:4142786 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:0050589 inflammatory bowel disease ISO RGD:10733 D RGD:9068941 20200609 RGD PMID:21135124|REF_RGD_ID:6218980 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:736219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:0081267 graft-versus-host disease ISO RGD:621725 D RGD:9068941 20200609 RGD PMID:9557158|REF_RGD_ID:7242787 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:1073 renal hypertension ISO RGD:736219 D RGD:9068941 20200609 RGD DNA: snp: 5'utr: -110A>C Associated with chronic kidney disease PMID:21475814|REF_RGD_ID:7242785 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:10763 hypertension ISO RGD:736219 D RGD:9068941 20200609 RGD mRNA: increased expression: leukocyte PMID:17341625|REF_RGD_ID:6480224 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:12858 Huntington's disease ISO RGD:10733 D RGD:9068941 20200609 RGD protein: increased expression PMID:22171050|REF_RGD_ID:5688778 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:14330 Parkinson's disease ISO RGD:621725 D RGD:9068941 20200609 RGD protein: increased expression: brain PMID:17241115|REF_RGD_ID:6480228 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:14330 Parkinson's disease ISO RGD:736219 D RGD:9068941 20200609 RGD PMID:18704197|REF_RGD_ID:6480203 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:14330 Parkinson's disease ISO RGD:736219 D RGD:9068941 20200609 RGD protein: decreased expression PMID:20697033|REF_RGD_ID:6218982 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:1749 squamous cell carcinoma ISO RGD:736219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:224 transient cerebral ischemia ISO RGD:621725 D RGD:9068941 20200609 RGD protein:increased expression:brain, postsynaptic density (rat) PMID:9425004|REF_RGD_ID:10059344 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:2316 brain ischemia ISO RGD:621725 D RGD:9068941 20200609 RGD PMID:16805800|REF_RGD_ID:6480229 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:2377 multiple sclerosis ISO RGD:736219 D RGD:9068941 20200609 RGD protein: increased expression: cerebrospinal fluid PMID:16303141|REF_RGD_ID:6480236 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:736219 D RGD:9068941 20200609 RGD protein: increased expression PMID:21824468|REF_RGD_ID:5688780 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:299 adenocarcinoma ISO RGD:736219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:3021 acute kidney failure ISO RGD:621725 D RGD:9068941 20200609 RGD protein:increased expression:kidney, lysosome (rat) PMID:14966137|REF_RGD_ID:7242786 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:736219 D RGD:9068941 20220303 RGD protein:decreased expression:blood (human) PMID:32663515|REF_RGD_ID:151660329 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:4362 cervical cancer ISO RGD:736219 D RGD:9068941 20200609 RGD Protein: increased expression PMID:21137014|REF_RGD_ID:6218976 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:4448 macular degeneration ISO RGD:736219 D RGD:9068941 20200609 RGD mRNA: increased expression: white blood cells PMID:19684010|REF_RGD_ID:6478714 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:5419 schizophrenia ISO RGD:736219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:630 genetic disease ISO RGD:736219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:9000217 Stomach Neoplasms ISO RGD:736219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:736219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736219 D RGD:9068941 20200609 RGD PMID:17330940|REF_RGD_ID:7242762 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:9004009 Reperfusion Injury ISO RGD:736219 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10216529 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:736219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:9004590 Acute Liver Failure ISO RGD:621725 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:15270078|REF_RGD_ID:4891447 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:9004626 Ocular Paraneoplastic Syndromes ISO RGD:621725 D RGD:9068941 20200609 RGD PMID:10586938|REF_RGD_ID:10059329 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:621725 D RGD:9068941 20200609 RGD PMID:7569112|REF_RGD_ID:7242788 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:9007364 Mouth Neoplasms ISO RGD:736219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:621725 D RGD:9068941 20200609 RGD protein:altered localization:liver (rat) PMID:12376827|REF_RGD_ID:10059389 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:9007661 Dwarfism ISO RGD:736219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12372593 HSPA8 heat shock protein family A (Hsp70) member 8 gene DOID:9256 colorectal cancer disease_progression ISO RGD:736219 D RGD:9068941 20200609 RGD protein: increased expression: serum PMID:19578980|REF_RGD_ID:6480104 12372606 OLFM1 olfactomedin 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:733478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12372606 OLFM1 olfactomedin 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12372606 OLFM1 olfactomedin 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:733478 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12372606 OLFM1 olfactomedin 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12372606 OLFM1 olfactomedin 1 gene DOID:0081097 Rafiq syndrome ISO RGD:733478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12372606 OLFM1 olfactomedin 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12372606 OLFM1 olfactomedin 1 gene DOID:3652 Leigh disease ISO RGD:733478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12372606 OLFM1 olfactomedin 1 gene DOID:630 genetic disease ISO RGD:733478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372606 OLFM1 olfactomedin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 12372606 OLFM1 olfactomedin 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:733478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:28492532|PMID:29907982 12372615 JADE3 jade family PHD finger 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12372615 JADE3 jade family PHD finger 3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1344107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12372615 JADE3 jade family PHD finger 3 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1344107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders PMID:14985377|PMID:21441247|PMID:28492532 12372615 JADE3 jade family PHD finger 3 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1344107 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12372615 JADE3 jade family PHD finger 3 gene DOID:12849 autistic disorder ISO RGD:1344107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12372615 JADE3 jade family PHD finger 3 gene DOID:630 genetic disease ISO RGD:1344107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372615 JADE3 jade family PHD finger 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12372634 OR2T11 olfactory receptor family 2 subfamily T member 11 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1349543 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12372634 OR2T11 olfactory receptor family 2 subfamily T member 11 gene DOID:1540 parathyroid carcinoma ISO RGD:1349543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12372634 OR2T11 olfactory receptor family 2 subfamily T member 11 gene DOID:630 genetic disease ISO RGD:1349543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372634 OR2T11 olfactory receptor family 2 subfamily T member 11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12372638 SIKE1 suppressor of IKBKE 1 gene DOID:0080690 RASopathy ISO RGD:1602207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12372638 SIKE1 suppressor of IKBKE 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1602207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 12372638 SIKE1 suppressor of IKBKE 1 gene DOID:630 genetic disease ISO RGD:1602207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372647 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:25439726|PMID:26922252|PMID:28492532 12372647 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532|PMID:32376792 12372647 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:0110171 Charcot-Marie-Tooth disease axonal type 2S ISO RGD:68450 D RGD:7240710 20180130 OMIM 12372647 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:0110171 Charcot-Marie-Tooth disease axonal type 2S ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2S PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15797190|PMID:16199547|PMID:16964485|PMID:17431882|PMID:18802676|PMID:19157874|PMID:19158098|PMID:21353777|PMID:22157136|PMID:22965130|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24033266|PMID:24088041|PMID:25280635|PMID:25439726|PMID:2545169|PMID:25454169|PMID:25568292|PMID:25741868|PMID:26257172|PMID:26298607|PMID:26392352|PMID:26467025|PMID:26709713|PMID:26752306|PMID:27450922|PMID:27727376|PMID:28065684|PMID:28251916|PMID:28492532|PMID:29858556|PMID:30598237|PMID:31020813|PMID:31178897|PMID:34190362 12372647 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:0111064 distal spinal muscular atrophy 1 ISO RGD:68450 D RGD:7240710 20180130 OMIM 12372647 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:0111064 distal spinal muscular atrophy 1 ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15290238|PMID:15503272|PMID:15599641|PMID:15797190|PMID:16199547|PMID:16765827|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:19158098|PMID:20031928|PMID:20859832|PMID:21353777|PMID:22157136|PMID:22791546|PMID:22965130|PMID:23449687|PMID:23566544|PMID:23806086|PMID:23929295|PMID:24022109|PMID:24033266|PMID:24088041|PMID:24388491|PMID:25280635|PMID:25326635|PMID:25326637|PMID:25439726|PMID:2545169|PMID:25454169|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26298607|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26709713|PMID:26922252|PMID:27450922|PMID:27727376|PMID:28065684|PMID:28202949|PMID:28251916|PMID:28397221|PMID:28403181|PMID:28492532|PMID:28765793|PMID:28902413|PMID:29761130|PMID:29858556|PMID:30373780|PMID:30598237|PMID:30755392|PMID:30863264|PMID:31019026|PMID:31020813|PMID:31178897|PMID:31211173|PMID:32376792|PMID:32488064|PMID:32573669|PMID:33258288|PMID:33369814|PMID:34190362|PMID:9536098 12372647 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy PMID:11528396|PMID:14681881|PMID:15108294|PMID:15797190|PMID:16199547|PMID:16964485|PMID:17431882|PMID:18802676|PMID:19157874|PMID:19158098|PMID:20859832|PMID:22157136|PMID:22965130|PMID:23449687|PMID:23566544|PMID:23929295|PMID:24022109|PMID:24033266|PMID:24342282|PMID:24388491|PMID:25280635|PMID:25439726|PMID:2545169|PMID:25454169|PMID:25568292|PMID:25741868|PMID:26467025|PMID:26709713|PMID:27450922|PMID:28403181|PMID:28492532|PMID:29761130|PMID:30598237|PMID:31020813|PMID:31211173 12372647 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:0111200 distal hereditary motor neuronopathy type 1 ISO RGD:68450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 1 PMID:14681881|PMID:25439726|PMID:25568292|PMID:25741868|PMID:28492532 12372647 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:1059 intellectual disability ISO RGD:68450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12372647 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:68450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15599641|PMID:15797190|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:20031928|PMID:20859832|PMID:21353777|PMID:22157136|PMID:22791546|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24033266|PMID:24088041|PMID:25326635|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26392352|PMID:26467025|PMID:28492532|PMID:29761130|PMID:30598237|PMID:30863264|PMID:32376792|PMID:32573669|PMID:33258288|PMID:9536098 12372647 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:68450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15599641|PMID:15797190|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:20031928|PMID:20859832|PMID:21353777|PMID:22157136|PMID:22791546|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24033266|PMID:24088041|PMID:25326635|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26709713|PMID:27727376|PMID:28251916|PMID:28492532|PMID:28765793|PMID:29761130|PMID:30598237|PMID:30863264|PMID:32376792|PMID:32573669|PMID:33258288|PMID:9536098 12372647 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15599641|PMID:15797190|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:19158098|PMID:20031928|PMID:20859832|PMID:21353777|PMID:22157136|PMID:22791546|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24033266|PMID:24088041|PMID:25326635|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26709713|PMID:26922252|PMID:27727376|PMID:28251916|PMID:28492532|PMID:28765793|PMID:29761130|PMID:29858556|PMID:30598237|PMID:30863264|PMID:32376792|PMID:32573669|PMID:33258288|PMID:9536098 12372647 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:12377 spinal muscular atrophy ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Spinal muscular atrophy PMID:14506069|PMID:14681881|PMID:15108294|PMID:15290238|PMID:16199547|PMID:16765827|PMID:16964485|PMID:17431882|PMID:18802676|PMID:19158098|PMID:21353777|PMID:22157136|PMID:23566544|PMID:24033266|PMID:24388491|PMID:25326635|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26922252|PMID:28065684|PMID:28397221|PMID:28492532|PMID:31178897|PMID:32376792 12372647 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:574 peripheral nervous system disease ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:11528396|PMID:14681881|PMID:16765827|PMID:22157136|PMID:23566544|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26392352|PMID:27450922|PMID:28492532|PMID:30598237 12372647 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:630 genetic disease ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14506069|PMID:14681881|PMID:15108294|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:19158098|PMID:21353777|PMID:22157136|PMID:22965130|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24088041|PMID:24388491|PMID:25439726|PMID:2545169|PMID:25454169|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26709713|PMID:26752306|PMID:26922252|PMID:27450922|PMID:27727376|PMID:28251916|PMID:28403181|PMID:28492532|PMID:28902413|PMID:30373780|PMID:30598237|PMID:31178897|PMID:32376792|PMID:33258288|PMID:33369814|PMID:9536098 12372647 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:870 neuropathy ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:11528396|PMID:14681881|PMID:16765827|PMID:22157136|PMID:23566544|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26392352|PMID:27450922|PMID:28492532|PMID:30598237 12372647 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:68450 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12372647 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68450 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:14506069|PMID:14681881|PMID:15108294|PMID:19157874|PMID:23449687|PMID:23806086|PMID:24088041|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26257172|PMID:26709713|PMID:28492532|PMID:30598237 12372647 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:9005219 Abnormal Reflexes ISO RGD:68450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperreflexia PMID:25741868 12372647 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:9005532 Muscle Weakness ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive muscle weakness PMID:14506069|PMID:14681881|PMID:25439726|PMID:25568292|PMID:25741868|PMID:28492532 12372647 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:9007114 Mobility Limitation ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:14506069|PMID:14681881|PMID:25439726|PMID:25568292|PMID:25741868|PMID:28492532 12372647 IGHMBP2 immunoglobulin mu DNA binding protein 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:68450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12372671 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:0050581 brachydactyly ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:25741868|PMID:26168268|PMID:28492532|PMID:30755392|PMID:32901917|PMID:33106617 12372671 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:0060041 autism spectrum disorder ISO RGD:1345219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12372671 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:0070066 autosomal dominant intellectual developmental disorder 36 ISO RGD:1345219 D RGD:7240710 20180130 OMIM 12372671 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:0070066 autosomal dominant intellectual developmental disorder 36 ISO RGD:1345219 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 36 PMID:24728327|PMID:25533962|PMID:25741868|PMID:25944380|PMID:26168268|PMID:26619011|PMID:28492532|PMID:29100083|PMID:30755392|PMID:31531803|PMID:31687265|PMID:32901917|PMID:33106617 12372671 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:1345219 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:25741868|PMID:25944380|PMID:28492532|PMID:29100083|PMID:31531803|PMID:33106617 12372671 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:1059 intellectual disability ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26619011|PMID:28492532|PMID:31687265 12372671 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:10907 microcephaly ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:26168268|PMID:28492532|PMID:30755392|PMID:32901917|PMID:33106617 12372671 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:12347 osteogenesis imperfecta ISO RGD:1345219 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lobstein disease PMID:25741868|PMID:25944380|PMID:28492532|PMID:29100083|PMID:31531803|PMID:33106617 12372671 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:12849 autistic disorder ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868|PMID:26168268|PMID:28492532|PMID:30755392|PMID:32901917|PMID:33106617 12372671 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:2303 stereotypic movement disorder ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:25741868|PMID:26168268|PMID:28492532|PMID:30755392|PMID:32901917|PMID:33106617 12372671 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:2526 prostate adenocarcinoma ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 12372671 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:363 uterine cancer ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:25533962|PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 12372671 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:3717 gastric adenocarcinoma ISO RGD:1345219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532 12372671 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:3717 gastric adenocarcinoma ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 12372671 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:3910 lung adenocarcinoma ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 12372671 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1345219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532 12372671 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 12372671 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 12372671 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:6171 uterine carcinosarcoma ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:25533962|PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 12372671 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:630 genetic disease ISO RGD:1345219 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25533962|PMID:25741868|PMID:25944380|PMID:26168268|PMID:26619011|PMID:28492532|PMID:29100083|PMID:31531803|PMID:33106617 12372671 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:8398 osteoarthritis ISO RGD:1345219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12372671 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:9000217 Stomach Neoplasms ISO RGD:1345219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12372671 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:9000918 Disease Progression ISO RGD:1345219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12372671 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12372671 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:9005603 Muscle Hypotonia ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:26168268|PMID:28492532|PMID:30755392|PMID:32901917|PMID:33106617 12372671 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 12372671 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha gene DOID:9008939 Breast Neoplasms ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 12372693 GAL3ST2 galactose-3-O-sulfotransferase 2 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1346582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12372693 GAL3ST2 galactose-3-O-sulfotransferase 2 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1346582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12372693 GAL3ST2 galactose-3-O-sulfotransferase 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1346582 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12372693 GAL3ST2 galactose-3-O-sulfotransferase 2 gene DOID:1059 intellectual disability ISO RGD:1346582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12372693 GAL3ST2 galactose-3-O-sulfotransferase 2 gene DOID:630 genetic disease ISO RGD:1346582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372693 GAL3ST2 galactose-3-O-sulfotransferase 2 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1346582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12372707 PKP2 plakophilin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22036071|PMID:22085907|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23973953|PMID:24033266|PMID:24055113|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24704780|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25857910|PMID:25979592|PMID:26264440|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26850880|PMID:27153395|PMID:27194543|PMID:27335691|PMID:27532257|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28611399|PMID:28705875|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29288195|PMID:29582136|PMID:29802319|PMID:29940860|PMID:29997227|PMID:30161220|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30562116|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30677492|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31638835|PMID:31702781|PMID:31737537|PMID:32183154|PMID:32372669|PMID:32522011|PMID:32600061|PMID:33087929|PMID:33232181|PMID:35535697 12372707 PKP2 plakophilin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1315204 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20525856|PMID:20603720|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22036071|PMID:22085907|PMID:22177269|PMID:22214898|PMID:22458570|PMID:22781308|PMID:23085127|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23863954|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24618965|PMID:24704780|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25611685|PMID:25616645|PMID:25637381|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25857910|PMID:25979592|PMID:26138720|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26850880|PMID:27153395|PMID:27194543|PMID:27335691|PMID:27532257|PMID:27650965|PMID:27727376|PMID:27831900|PMID:27930701|PMID:28069705|PMID:28166282|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28611399|PMID:28705875|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29288195|PMID:29582136|PMID:29606362|PMID:29802319|PMID:29915097|PMID:29940860|PMID:29997227|PMID:30161220|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30562116|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30677492|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30847666|PMID:31156706|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31638835|PMID:31702781|PMID:31737537|PMID:32183154|PMID:32372669|PMID:32522011|PMID:32600061|PMID:33087929|PMID:33232181|PMID:33238575|PMID:34469894|PMID:35535697|PMID:35655036|PMID:9536098 12372707 PKP2 plakophilin 2 gene DOID:0050451 Brugada syndrome ISO RGD:1315204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:20400443|PMID:20857253|PMID:21378009|PMID:21606390|PMID:21636032|PMID:23137101|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24200904|PMID:24704780|PMID:25650408|PMID:25676813|PMID:25741868|PMID:27930701|PMID:28166282|PMID:28492532|PMID:29288195|PMID:33919104 12372707 PKP2 plakophilin 2 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis PMID:25351510|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30847666 12372707 PKP2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26887364|PMID:27000522|PMID:27005929|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27711072|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29497013|PMID:29540472|PMID:29582136|PMID:29802319|PMID:29997227|PMID:30279520|PMID:30354609|PMID:30445427|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31402444|PMID:31539150|PMID:31568572|PMID:32906206|PMID:9536098 12372707 PKP2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:27000522|PMID:27005929|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27711072|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29540472|PMID:29582136|PMID:29802319|PMID:29961461|PMID:29997227|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33919104|PMID:9536098 12372707 PKP2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:27000522|PMID:27005929|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27711072|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29540472|PMID:29582136|PMID:29802319|PMID:29961461|PMID:29997227|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33919104|PMID:35535697|PMID:9536098 12372707 PKP2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:27000522|PMID:27005929|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27711072|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29540472|PMID:29582136|PMID:29802319|PMID:29961461|PMID:29997227|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33919104|PMID:35535697|PMID:9536098 12372707 PKP2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:27000522|PMID:27005929|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27711072|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29540472|PMID:29582136|PMID:29802319|PMID:29961461|PMID:29997227|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33919104|PMID:35535697|PMID:9536098 12372707 PKP2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:17908752|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20890277|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24618965|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26887364|PMID:27000522|PMID:27005929|PMID:27030002|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27650965|PMID:27697855|PMID:27711072|PMID:27727376|PMID:27831900|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29172153|PMID:29178656|PMID:29192238|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29456632|PMID:29497013|PMID:29540472|PMID:29582136|PMID:29606362|PMID:29802319|PMID:29915097|PMID:29961461|PMID:29997227|PMID:30260051|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30471092|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30678776|PMID:30685992|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31156706|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32397162|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33500567|PMID:33919104|PMID:34008892|PMID:34135346|PMID:34426522|PMID:34469894|PMID:34816084|PMID:35535697|PMID:9536098 12372707 PKP2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:17908752|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20890277|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24618965|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26887364|PMID:27000522|PMID:27005929|PMID:27030002|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27650965|PMID:27697855|PMID:27711072|PMID:27727376|PMID:27831900|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29172153|PMID:29178656|PMID:29192238|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29456632|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29582136|PMID:29606362|PMID:29802319|PMID:29915097|PMID:29961461|PMID:29997227|PMID:30260051|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30471092|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30678776|PMID:30685992|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31156706|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32397162|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33919104|PMID:34008892|PMID:34120153|PMID:34135346|PMID:34426522|PMID:34469894|PMID:34816084|PMID:35535697|PMID:35655036|PMID:35932045|PMID:9536098 12372707 PKP2 plakophilin 2 gene DOID:0060224 atrial fibrillation ISO RGD:1315204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12372707 PKP2 plakophilin 2 gene DOID:0060480 left ventricular noncompaction ISO RGD:1315204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:21636032|PMID:22214898|PMID:23299917|PMID:24033266|PMID:25741868|PMID:28492532 12372707 PKP2 plakophilin 2 gene DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I ISO RGD:1315204 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MOPD 1 PMID:24033266|PMID:25741868|PMID:28492532 12372707 PKP2 plakophilin 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1315204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20857253|PMID:21062920|PMID:21606390|PMID:22170284|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24352520|PMID:25395996|PMID:25741868|PMID:26676851|PMID:27085656|PMID:27711072|PMID:28341588|PMID:28492532|PMID:31539150 12372707 PKP2 plakophilin 2 gene DOID:0081164 dilated cardiomyopathy 3B ISO RGD:1315204 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 3B PMID:20400443|PMID:21378009|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25676813|PMID:25741868|PMID:27930701|PMID:28166282|PMID:28492532|PMID:33919104 12372707 PKP2 plakophilin 2 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:19863551|PMID:24704780|PMID:25741868|PMID:28492532 12372707 PKP2 plakophilin 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1315204 D RGD:7240710 20180130 OMIM 12372707 PKP2 plakophilin 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1315204 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16799251|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:17908752|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20525856|PMID:20573160|PMID:20603720|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20890277|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22085907|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22458570|PMID:22781308|PMID:22889254|PMID:23085127|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23486541|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23863954|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24618965|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:24981977|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25326635|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25611685|PMID:25616645|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25857910|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26701096|PMID:26743238|PMID:26850880|PMID:26887364|PMID:27000522|PMID:27005929|PMID:27030002|PMID:27066507|PMID:27085656|PMID:27114410|PMID:27122407|PMID:27153395|PMID:27194543|PMID:27335691|PMID:27532257|PMID:27650965|PMID:27697855|PMID:27711072|PMID:27727376|PMID:27831900|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29038103|PMID:29099038|PMID:29128982|PMID:29172153|PMID:29178656|PMID:29192238|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29343803|PMID:29456632|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29582136|PMID:29606362|PMID:29802319|PMID:29915097|PMID:29940860|PMID:29961461|PMID:29997227|PMID:30161220|PMID:30260051|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30471092|PMID:30562116|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30678776|PMID:30685992|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:30985088|PMID:31156706|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31638835|PMID:31702781|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32397162|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33919104|PMID:34008892|PMID:34120153|PMID:34135346|PMID:34426522|PMID:34469894|PMID:34540771|PMID:34816084|PMID:35535697|PMID:35655036|PMID:35932045|PMID:9536098 12372707 PKP2 plakophilin 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20857253|PMID:21062920|PMID:21606390|PMID:22170284|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24352520|PMID:25395996|PMID:25741868|PMID:26676851|PMID:27085656|PMID:27711072|PMID:28166811|PMID:28341588|PMID:28492532|PMID:31539150 12372707 PKP2 plakophilin 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1315204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20857253|PMID:21062920|PMID:21606390|PMID:22170284|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24352520|PMID:25395996|PMID:25741868|PMID:26676851|PMID:27085656|PMID:27711072|PMID:28341588|PMID:28492532|PMID:31539150 12372707 PKP2 plakophilin 2 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1315204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12372707 PKP2 plakophilin 2 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12372707 PKP2 plakophilin 2 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1315204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12372707 PKP2 plakophilin 2 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1315204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:25741868 12372707 PKP2 plakophilin 2 gene DOID:0110461 X-linked dilated cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, X-LINKED PMID:20400443|PMID:21378009|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25676813|PMID:25741868|PMID:27930701|PMID:28166282|PMID:28492532|PMID:33919104 12372707 PKP2 plakophilin 2 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1315204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:20400443|PMID:21378009|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25676813|PMID:25741868|PMID:27930701|PMID:28166282|PMID:28492532|PMID:33919104 12372707 PKP2 plakophilin 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16567567|PMID:17556197|PMID:19863551|PMID:19955750|PMID:20525856|PMID:20716751|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24352520|PMID:25163546|PMID:25637381|PMID:25741868|PMID:26498160|PMID:28301460|PMID:28492532|PMID:29802319|PMID:30445427 12372707 PKP2 plakophilin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:20400443|PMID:21378009|PMID:2163603|PMID:21636032|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25650408|PMID:25676813|PMID:25741868|PMID:26220970|PMID:26743238|PMID:27066507|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28492532|PMID:28750076|PMID:31333075|PMID:31568572|PMID:32906206|PMID:33919104 12372707 PKP2 plakophilin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1315204 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:20400443|PMID:21378009|PMID:2163603|PMID:21636032|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25650408|PMID:25676813|PMID:25741868|PMID:26220970|PMID:26743238|PMID:27066507|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28492532|PMID:28750076|PMID:31333075|PMID:31568572|PMID:32906206|PMID:33552729|PMID:33919104|PMID:35932045 12372707 PKP2 plakophilin 2 gene DOID:630 genetic disease ISO RGD:1315204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12372707 PKP2 plakophilin 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1315204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:15489853|PMID:16549640|PMID:16567567|PMID:17010805|PMID:19084810|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20829228|PMID:20857253|PMID:21301620|PMID:21606396|PMID:21723241|PMID:22177269|PMID:23178689|PMID:23354045|PMID:23810883|PMID:23871674|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24585727|PMID:24704780|PMID:24768880|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25971409|PMID:27532257|PMID:28097316|PMID:28341588|PMID:28492532|PMID:28588093|PMID:29221435|PMID:30562116 12372707 PKP2 plakophilin 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:25351510|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30847666 12372707 PKP2 plakophilin 2 gene DOID:9000299 cardiac amyloidosis ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:25351510|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30847666 12372707 PKP2 plakophilin 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1315204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:15489853|PMID:25741868|PMID:28492532|PMID:34540771 12372707 PKP2 plakophilin 2 gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:25351510|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30847666 12372707 PKP2 plakophilin 2 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:17010805|PMID:20400443|PMID:23183494|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26230511|PMID:27085656|PMID:28492532|PMID:29172153|PMID:29288195 12372707 PKP2 plakophilin 2 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1315204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:20400443|PMID:20857253|PMID:21378009|PMID:21606390|PMID:21636032|PMID:23137101|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24200904|PMID:24704780|PMID:25650408|PMID:25676813|PMID:25741868|PMID:27930701|PMID:28166282|PMID:28492532|PMID:29288195|PMID:33919104 12372707 PKP2 plakophilin 2 gene DOID:9003163 Heart Block ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:17010805|PMID:20400443|PMID:23183494|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26230511|PMID:27085656|PMID:28492532|PMID:29172153|PMID:29288195 12372707 PKP2 plakophilin 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1315204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:15489853|PMID:16101641|PMID:16549640|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17521752|PMID:18382419|PMID:19279339|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20857253|PMID:21606396|PMID:21636032|PMID:21859740|PMID:22781308|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:24033266|PMID:24503780|PMID:24585727|PMID:25163546|PMID:25637381|PMID:25741868|PMID:25825243|PMID:25979592|PMID:26743238|PMID:27153395|PMID:28255936|PMID:28492532|PMID:29099038|PMID:29247119|PMID:29802319|PMID:29997227|PMID:30656044|PMID:30764827|PMID:30790397 12372707 PKP2 plakophilin 2 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:1315204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:20857253|PMID:21606390|PMID:21636032|PMID:23137101|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24200904|PMID:24704780|PMID:25741868|PMID:28492532|PMID:29288195 12372707 PKP2 plakophilin 2 gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1315204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:25741868|PMID:28492532 12372707 PKP2 plakophilin 2 gene DOID:9007820 Sudden Death ISO RGD:1315204 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:15489853|PMID:17010805|PMID:20400443|PMID:23183494|PMID:23911551|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30571190|PMID:30677492|PMID:30678776|PMID:30700137|PMID:30790397|PMID:34135346 12372707 PKP2 plakophilin 2 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868|PMID:27532257|PMID:28492532|PMID:29802319|PMID:31402444 12372707 PKP2 plakophilin 2 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:1315204 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:25741868|PMID:28492532 12372707 PKP2 plakophilin 2 gene DOID:9883 Becker muscular dystrophy ISO RGD:1315204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type PMID:20400443|PMID:21378009|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25676813|PMID:25741868|PMID:27930701|PMID:28166282|PMID:28492532|PMID:33919104 12372724 SORCS3 sortilin related VPS10 domain containing receptor 3 gene DOID:630 genetic disease ISO RGD:1322178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372757 CLCN2 chloride voltage-gated channel 2 gene DOID:0050753 cerebellar ataxia ISO RGD:733366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 12372757 CLCN2 chloride voltage-gated channel 2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:733366 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12372757 CLCN2 chloride voltage-gated channel 2 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:733366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12372757 CLCN2 chloride voltage-gated channel 2 gene DOID:0111312 idiopathic generalized epilepsy 11 ISO RGD:733366 D RGD:7240710 20230505 OMIM 12372757 CLCN2 chloride voltage-gated channel 2 gene DOID:0111312 idiopathic generalized epilepsy 11 ISO RGD:733366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 11 PMID:12612585|PMID:1521363|PMID:15252188|PMID:15505175|PMID:16199547|PMID:16932951|PMID:17567819|PMID:17762171|PMID:19191339|PMID:19200853|PMID:19710712|PMID:19861545|PMID:21703448|PMID:23542698|PMID:23632988|PMID:23707145|PMID:25741868|PMID:25907736|PMID:28488083|PMID:28492532|PMID:29403011|PMID:31589614|PMID:32906206 12372757 CLCN2 chloride voltage-gated channel 2 gene DOID:0111546 Currarino syndrome ISO RGD:733366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12372757 CLCN2 chloride voltage-gated channel 2 gene DOID:10579 leukodystrophy ISO RGD:736064 D RGD:9068941 20220825 MouseDO 12372757 CLCN2 chloride voltage-gated channel 2 gene DOID:1059 intellectual disability ISO RGD:733366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities PMID:17762171|PMID:25741868|PMID:28492532 12372757 CLCN2 chloride voltage-gated channel 2 gene DOID:12849 autistic disorder ISO RGD:733366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 12372757 CLCN2 chloride voltage-gated channel 2 gene DOID:1485 cystic fibrosis ISO RGD:2361 D RGD:9068941 20200609 RGD PMID:8811102|REF_RGD_ID:704390 12372757 CLCN2 chloride voltage-gated channel 2 gene DOID:1826 epilepsy ISO RGD:733366 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:17762171|PMID:25741868|PMID:28492532 12372757 CLCN2 chloride voltage-gated channel 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:733366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12372757 CLCN2 chloride voltage-gated channel 2 gene DOID:1969 cerebral palsy ISO RGD:733366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:19191339|PMID:23632988|PMID:25741868|PMID:28492532 12372757 CLCN2 chloride voltage-gated channel 2 gene DOID:3070 high grade glioma ISO RGD:733366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12843258 12372757 CLCN2 chloride voltage-gated channel 2 gene DOID:446 primary hyperaldosteronism ISO RGD:733366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29403012 12372757 CLCN2 chloride voltage-gated channel 2 gene DOID:446 primary hyperaldosteronism ISO RGD:736064 D RGD:9068941 20220825 MouseDO OMIM:605635 | OMIM:613677 12372757 CLCN2 chloride voltage-gated channel 2 gene DOID:630 genetic disease ISO RGD:733366 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12372757 CLCN2 chloride voltage-gated channel 2 gene DOID:9006303 Familial Hyperaldosteronism, Type II ISO RGD:733366 D RGD:7240710 20190315 OMIM 12372757 CLCN2 chloride voltage-gated channel 2 gene DOID:9006303 Familial Hyperaldosteronism, Type II ISO RGD:733366 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: FH II | ClinVar Annotator: match by term: Familial hyperaldosteronism type II PMID:1521363|PMID:17762171|PMID:19191339|PMID:19861545|PMID:21703448|PMID:23542698|PMID:23707145|PMID:25741868|PMID:25907736|PMID:28492532|PMID:29403011|PMID:29403012|PMID:31589614|PMID:32906206 12372757 CLCN2 chloride voltage-gated channel 2 gene DOID:9008250 Leukoencephalopathy with Ataxia ISO RGD:733366 D RGD:7240710 20180130 OMIM 12372757 CLCN2 chloride voltage-gated channel 2 gene DOID:9008250 Leukoencephalopathy with Ataxia ISO RGD:733366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with ataxia PMID:12612585|PMID:15252188|PMID:15505175|PMID:16932951|PMID:17567819|PMID:17576681|PMID:17762171|PMID:19191339|PMID:19710712|PMID:21703448|PMID:23632988|PMID:23707145|PMID:25128180|PMID:25741868|PMID:28337550|PMID:28492532|PMID:28905383|PMID:31589614|PMID:32906206|PMID:9536098 12372785 AVPR1B arginine vasopressin receptor 1B gene DOID:0050741 alcohol dependence ISO RGD:6502812 D RGD:9068941 20210709 RGD PMID:21309953|REF_RGD_ID:14700679 12372785 AVPR1B arginine vasopressin receptor 1B gene DOID:0060041 autism spectrum disorder ISO RGD:619562 D RGD:9068941 20200609 RGD DNA:SNP: :rs28632197, rs35369693 (human) PMID:27920663|REF_RGD_ID:14700652 12372785 AVPR1B arginine vasopressin receptor 1B gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:619562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12372785 AVPR1B arginine vasopressin receptor 1B gene DOID:12849 autistic disorder ISO RGD:619562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12372785 AVPR1B arginine vasopressin receptor 1B gene DOID:1540 parathyroid carcinoma ISO RGD:619562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12372785 AVPR1B arginine vasopressin receptor 1B gene DOID:1596 depressive disorder no_association ISO RGD:619562 D RGD:9068941 20200609 RGD associated with bipolar disorder;DNA:SNP: :multiple PMID:23068076|REF_RGD_ID:14700671 12372785 AVPR1B arginine vasopressin receptor 1B gene DOID:1596 depressive disorder treatment ISO RGD:62179 D RGD:9068941 20200609 RGD PMID:26700241|REF_RGD_ID:14700672 12372785 AVPR1B arginine vasopressin receptor 1B gene DOID:1596 depressive disorder treatment ISO RGD:6502812 D RGD:9068941 20210709 RGD PMID:24654684|REF_RGD_ID:14700666 12372785 AVPR1B arginine vasopressin receptor 1B gene DOID:2030 anxiety disorder treatment ISO RGD:62179 D RGD:9068941 20200609 RGD PMID:21956463|REF_RGD_ID:14700676 12372785 AVPR1B arginine vasopressin receptor 1B gene DOID:2030 anxiety disorder treatment ISO RGD:6502812 D RGD:9068941 20210709 RGD PMID:24654684|REF_RGD_ID:14700666 12372785 AVPR1B arginine vasopressin receptor 1B gene DOID:3312 bipolar disorder ISO RGD:619562 D RGD:9068941 20200609 RGD DNA:SNP: :rs28536160 (human) PMID:24012103|REF_RGD_ID:14700651 12372785 AVPR1B arginine vasopressin receptor 1B gene DOID:3324 mood disorder ISO RGD:619562 D RGD:9068941 20200609 RGD DNA:SNP: :rs28536160 (human) PMID:23962971|REF_RGD_ID:11528373 12372785 AVPR1B arginine vasopressin receptor 1B gene DOID:3324 mood disorder no_association ISO RGD:619562 D RGD:9068941 20200609 RGD DNA:SNP: :rs28373064, 35369693, rs28632197 (human) PMID:23962971|REF_RGD_ID:11528373 12372785 AVPR1B arginine vasopressin receptor 1B gene DOID:3829 pituitary adenoma ISO RGD:619562 D RGD:9068941 20200609 RGD PMID:28692683|REF_RGD_ID:14700668 12372785 AVPR1B arginine vasopressin receptor 1B gene DOID:630 genetic disease ISO RGD:619562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372785 AVPR1B arginine vasopressin receptor 1B gene DOID:7004 ACTH-secreting pituitary adenoma ISO RGD:619562 D RGD:9068941 20200609 RGD PMID:23884782|REF_RGD_ID:14700670 12372785 AVPR1B arginine vasopressin receptor 1B gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:619562 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12372785 AVPR1B arginine vasopressin receptor 1B gene DOID:9005158 Cushing Syndrome ISO RGD:619562 D RGD:9068941 20200609 RGD PMID:23884782|REF_RGD_ID:14700670 12372785 AVPR1B arginine vasopressin receptor 1B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:619562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12372789 PDE8B phosphodiesterase 8B gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:1348334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18272904 12372789 PDE8B phosphodiesterase 8B gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1348334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 12372789 PDE8B phosphodiesterase 8B gene DOID:1289 neurodegenerative disease ISO RGD:1348334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20085714 12372789 PDE8B phosphodiesterase 8B gene DOID:630 genetic disease ISO RGD:1348334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12372789 PDE8B phosphodiesterase 8B gene DOID:679 basal ganglia disease ISO RGD:1348334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20085714 12372789 PDE8B phosphodiesterase 8B gene DOID:9001480 Muscle Rigidity ISO RGD:1348334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20085714 12372789 PDE8B phosphodiesterase 8B gene DOID:9001722 Dysarthria ISO RGD:1348334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20085714 12372789 PDE8B phosphodiesterase 8B gene DOID:9002743 Striatal Degeneration, Autosomal Dominant 1 ISO RGD:1348334 D RGD:7240710 20180130 OMIM 12372789 PDE8B phosphodiesterase 8B gene DOID:9002743 Striatal Degeneration, Autosomal Dominant 1 ISO RGD:1348334 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Striatal degeneration, autosomal dominant 1 PMID:24033266|PMID:25741868|PMID:26475694|PMID:26769607|PMID:28492532 12372789 PDE8B phosphodiesterase 8B gene DOID:9002955 Nerve Degeneration ISO RGD:1348334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Striatal Degeneration 12372789 PDE8B phosphodiesterase 8B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12372789 PDE8B phosphodiesterase 8B gene DOID:9005327 Primary Pigmented Nodular Adrenocortical Disease, 3 ISO RGD:1348334 D RGD:7240710 20180130 OMIM 12372789 PDE8B phosphodiesterase 8B gene DOID:9005327 Primary Pigmented Nodular Adrenocortical Disease, 3 ISO RGD:1348334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 3 PMID:18272904 12372789 PDE8B phosphodiesterase 8B gene DOID:9006845 Striatal Degeneration, Autosomal Dominant ISO RGD:1348334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12372816 PSPH phosphoserine phosphatase gene DOID:0050724 PSPH deficiency ISO RGD:1318726 D RGD:7240710 20180130 OMIM 12372816 PSPH phosphoserine phosphatase gene DOID:0050724 PSPH deficiency ISO RGD:1318726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PSPH deficiency | ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency PMID:14673469|PMID:16199547|PMID:17576681|PMID:24146633|PMID:25080166|PMID:25741868|PMID:26589312|PMID:26633542|PMID:28492532|PMID:31515488|PMID:9222972|PMID:9536098 12372816 PSPH phosphoserine phosphatase gene DOID:12849 autistic disorder ISO RGD:1318726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12372816 PSPH phosphoserine phosphatase gene DOID:1826 epilepsy ISO RGD:1318726 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12372816 PSPH phosphoserine phosphatase gene DOID:2187 amelogenesis imperfecta ISO RGD:1318726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital enamel hypoplasia PMID:28492532 12372816 PSPH phosphoserine phosphatase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12372816 PSPH phosphoserine phosphatase gene DOID:630 genetic disease ISO RGD:1318726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 12372816 PSPH phosphoserine phosphatase gene DOID:9008397 Maternal Phenylketonuria ISO RGD:1308764 D RGD:9068941 20200609 RGD PMID:7201630|REF_RGD_ID:2308873 12372816 PSPH phosphoserine phosphatase gene DOID:9252 amino acid metabolic disorder ISO RGD:1318726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14673469 12372848 ANGEL1 angel homolog 1 gene DOID:1059 intellectual disability ISO RGD:1314740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12372848 ANGEL1 angel homolog 1 gene DOID:630 genetic disease ISO RGD:1314740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372873 DES desmin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1347887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:10717012|PMID:10905661|PMID:14991347|PMID:15050448|PMID:21262226|PMID:22153487|PMID:23425003|PMID:23575897|PMID:24033266|PMID:25179549|PMID:25741868|PMID:27532257|PMID:27854218|PMID:28492532|PMID:31718026|PMID:33023321 12372873 DES desmin gene DOID:0050700 cardiomyopathy ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10430757|PMID:10717012|PMID:10905661|PMID:14724127|PMID:14991347|PMID:15050448|PMID:15477095|PMID:16217025|PMID:16519886|PMID:16828798|PMID:16865695|PMID:17221859|PMID:17325244|PMID:17576681|PMID:17626518|PMID:18414213|PMID:18653338|PMID:19181099|PMID:20474083|PMID:20981092|PMID:21262226|PMID:21842594|PMID:22153487|PMID:22215463|PMID:22337857|PMID:23143191|PMID:23168288|PMID:23299917|PMID:23300193|PMID:23425003|PMID:23575897|PMID:23806086|PMID:23861362|PMID:24033266|PMID:24088041|PMID:24503780|PMID:25214167|PMID:25617006|PMID:25736269|PMID:25741868|PMID:26265630|PMID:26431784|PMID:26467025|PMID:26724190|PMID:27532257|PMID:27697855|PMID:27854218|PMID:27896284|PMID:27930701|PMID:28341588|PMID:28492532|PMID:28798025|PMID:29926427|PMID:30190612|PMID:30323756|PMID:30615648|PMID:30755392|PMID:30764827|PMID:30847666|PMID:31371504|PMID:31718026|PMID:31953240|PMID:31983221|PMID:32093415|PMID:32142595|PMID:32268277|PMID:32403337|PMID:32746448|PMID:32880476|PMID:33023321|PMID:33662488|PMID:34426522|PMID:9536098 12372873 DES desmin gene DOID:0060224 atrial fibrillation ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20137276 12372873 DES desmin gene DOID:0080000 muscular disease ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Skeletal muscle disease PMID:24033266|PMID:24503780|PMID:25741868|PMID:26265630|PMID:26724190|PMID:28341588|PMID:28492532|PMID:30755392|PMID:32268277|PMID:32403337 12372873 DES desmin gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1347887 D RGD:7240710 20180130 OMIM 12372873 DES desmin gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy | ClinVar Annotator: match by term: Myofibrillar myopathy 1 PMID:10430757|PMID:10545598|PMID:10717012|PMID:10905661|PMID:10970245|PMID:11061256|PMID:11073539|PMID:11310634|PMID:11668632|PMID:11728149|PMID:12410397|PMID:12609507|PMID:12620971|PMID:12766977|PMID:14326018|PMID:14648196|PMID:14711882|PMID:14724127|PMID:14991347|PMID:15050448|PMID:15477095|PMID:15759133|PMID:15800015|PMID:16009553|PMID:16199547|PMID:16217025|PMID:16376610|PMID:16449718|PMID:16519886|PMID:16806931|PMID:16828798|PMID:16865695|PMID:16890305|PMID:17105773|PMID:17188893|PMID:17221859|PMID:17325244|PMID:17418574|PMID:17439987|PMID:17576681|PMID:17626518|PMID:17720647|PMID:18061454|PMID:18414213|PMID:18504128|PMID:18539904|PMID:18563598|PMID:18653338|PMID:18765652|PMID:19005210|PMID:19105189|PMID:19151983|PMID:19181099|PMID:19433360|PMID:19587455|PMID:19716701|PMID:19763525|PMID:19879535|PMID:20171226|PMID:20301672|PMID:20423733|PMID:20448486|PMID:20474083|PMID:20696008|PMID:20718792|PMID:20829228|PMID:20981092|PMID:21135508|PMID:21262226|PMID:21520333|PMID:21676617|PMID:21842594|PMID:22106715|PMID:22153487|PMID:22215463|PMID:22275259|PMID:22337857|PMID:22395865|PMID:22403400|PMID:22484823|PMID:23032110|PMID:23051780|PMID:23143191|PMID:23155419|PMID:23168288|PMID:23299917|PMID:23300193|PMID:23349452|PMID:23396983|PMID:23425003|PMID:23575897|PMID:23639843|PMID:23687351|PMID:23785128|PMID:23806086|PMID:23815709|PMID:23861362|PMID:24033266|PMID:24088041|PMID:24200904|PMID:24441330|PMID:24503780|PMID:25163546|PMID:25171807|PMID:25179549|PMID:25214167|PMID:25333361|PMID:25394388|PMID:25557463|PMID:25590979|PMID:25617006|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25928149|PMID:26097489|PMID:26265630|PMID:26272908|PMID:26431784|PMID:26467025|PMID:26633545|PMID:26676851|PMID:26724190|PMID:26789769|PMID:27393313|PMID:27532257|PMID:27561770|PMID:27618136|PMID:27697855|PMID:27733623|PMID:27810088|PMID:27854218|PMID:27896284|PMID:27930701|PMID:28171858|PMID:28256728|PMID:28341588|PMID:28403181|PMID:28416588|PMID:28470624|PMID:28492532|PMID:28566242|PMID:28588093|PMID:28611029|PMID:28703267|PMID:28798025|PMID:29034897|PMID:29212896|PMID:29247119|PMID:29382405|PMID:29386531|PMID:29447731|PMID:29892087|PMID:29915097|PMID:29915714|PMID:29926427|PMID:29997562|PMID:30023281|PMID:30055862|PMID:30062237|PMID:30190612|PMID:30323756|PMID:30403391|PMID:30531895|PMID:30614851|PMID:30615648|PMID:30677492|PMID:30755392|PMID:30764827|PMID:30847666|PMID:30975432|PMID:31371504|PMID:31609036|PMID:31718026|PMID:31835587|PMID:31912959|PMID:31953240|PMID:31983221|PMID:31998224|PMID:32093415|PMID:32105824|PMID:32142595|PMID:32150461|PMID:32235386|PMID:32268277|PMID:32397162|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32880476|PMID:33023321|PMID:33290826|PMID:33373648|PMID:33505848|PMID:33546848|PMID:33652119|PMID:33662488|PMID:33673806|PMID:33874732|PMID:34011823|PMID:34315782|PMID:34426522|PMID:36497166|PMID:5828910|PMID:7672786|PMID:8114783|PMID:9382102|PMID:9536098|PMID:9697706|PMID:9736733 12372873 DES desmin gene DOID:0080307 myofibrillar myopathy ISO RGD:1347887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy PMID:10905661|PMID:14711882|PMID:14724127|PMID:15477095|PMID:16217025|PMID:16519886|PMID:16828798|PMID:16865695|PMID:17221859|PMID:17325244|PMID:17626518|PMID:18414213|PMID:20474083|PMID:20981092|PMID:21262226|PMID:21842594|PMID:22215463|PMID:22337857|PMID:23051780|PMID:23143191|PMID:23168288|PMID:23299917|PMID:23806086|PMID:23861362|PMID:24033266|PMID:24088041|PMID:25214167|PMID:25617006|PMID:25736269|PMID:25741868|PMID:25928149|PMID:26467025|PMID:27618136|PMID:27697855|PMID:27896284|PMID:27930701|PMID:28416588|PMID:28492532|PMID:28798025|PMID:29892087|PMID:29926427|PMID:30190612|PMID:30847666|PMID:32142595|PMID:32150461|PMID:32880476|PMID:33652119 12372873 DES desmin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1347887 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:17221859|PMID:18653338|PMID:19151983|PMID:20171226|PMID:20423733|PMID:20448486|PMID:22106715|PMID:22153487|PMID:22403400|PMID:23349452|PMID:24033266|PMID:25557463|PMID:25741868|PMID:26467025|PMID:27810088|PMID:27854218|PMID:28256728|PMID:28492532|PMID:28611029|PMID:29915714|PMID:30023281|PMID:31912959 12372873 DES desmin gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12372873 DES desmin gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:25741868 12372873 DES desmin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1347887 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:17221859|PMID:18653338|PMID:19151983|PMID:20171226|PMID:20423733|PMID:20448486|PMID:22106715|PMID:22153487|PMID:22403400|PMID:23349452|PMID:24033266|PMID:25557463|PMID:25741868|PMID:26467025|PMID:27810088|PMID:27854218|PMID:28256728|PMID:28492532|PMID:28611029|PMID:29915714|PMID:30023281|PMID:31912959 12372873 DES desmin gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1347887 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868|PMID:28492532|PMID:30847666 12372873 DES desmin gene DOID:0110431 dilated cardiomyopathy 1I ISO RGD:1347887 D RGD:7240710 20180130 OMIM 12372873 DES desmin gene DOID:0110431 dilated cardiomyopathy 1I ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1I PMID:10430757|PMID:10717012|PMID:10905661|PMID:11310634|PMID:11728149|PMID:12609507|PMID:14724127|PMID:14991347|PMID:15477095|PMID:15800015|PMID:16199547|PMID:16217025|PMID:16519886|PMID:16828798|PMID:16865695|PMID:17105773|PMID:17221859|PMID:17325244|PMID:17439987|PMID:17576681|PMID:17626518|PMID:18414213|PMID:18539904|PMID:18653338|PMID:19105189|PMID:19181099|PMID:20448486|PMID:20474083|PMID:20696008|PMID:20718792|PMID:20981092|PMID:21262226|PMID:21520333|PMID:21842594|PMID:22153487|PMID:22215463|PMID:22337857|PMID:23143191|PMID:23168288|PMID:23299917|PMID:23396983|PMID:23575897|PMID:23806086|PMID:23861362|PMID:24033266|PMID:24088041|PMID:24200904|PMID:24503780|PMID:25214167|PMID:25333361|PMID:25394388|PMID:25617006|PMID:25736269|PMID:25741868|PMID:25928149|PMID:26265630|PMID:26272908|PMID:26431784|PMID:26467025|PMID:26724190|PMID:27393313|PMID:27532257|PMID:27697855|PMID:27896284|PMID:27930701|PMID:28341588|PMID:28416588|PMID:28470624|PMID:28492532|PMID:28588093|PMID:28798025|PMID:29247119|PMID:29382405|PMID:29386531|PMID:29447731|PMID:29915097|PMID:29926427|PMID:29997562|PMID:30190612|PMID:30403391|PMID:30531895|PMID:30615648|PMID:30677492|PMID:30755392|PMID:30764827|PMID:30847666|PMID:31019283|PMID:31953240|PMID:31983221|PMID:32093415|PMID:32142595|PMID:32150461|PMID:32235386|PMID:32268277|PMID:32397162|PMID:32403337|PMID:32528171|PMID:32880476|PMID:33652119|PMID:33662488|PMID:34011823|PMID:34426522|PMID:36497166|PMID:9536098|PMID:9697706 12372873 DES desmin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1347887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:10717012|PMID:11073539|PMID:12620971|PMID:14724127|PMID:19587455|PMID:19716701|PMID:20696008|PMID:22153487|PMID:23575897|PMID:23815709|PMID:24033266|PMID:24503780|PMID:25590979|PMID:28492532|PMID:33874732 12372873 DES desmin gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1347887 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:29253866 12372873 DES desmin gene DOID:0111214 distal spinal muscular atrophy type 5 ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Young adult-onset distal hereditary motor neuropathy PMID:28492532 12372873 DES desmin gene DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type ISO RGD:1347887 D RGD:7240710 20180130 OMIM 12372873 DES desmin gene DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type ISO RGD:1347887 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neurogenic scapuloperoneal syndrome, Kaeser type | ClinVar Annotator: match by term: Scapuloperoneal syndrome, neurogenic type, of Kaeser PMID:10430757|PMID:10717012|PMID:10905661|PMID:11310634|PMID:11728149|PMID:12609507|PMID:14326018|PMID:14724127|PMID:14991347|PMID:15477095|PMID:15800015|PMID:16199547|PMID:16217025|PMID:16519886|PMID:16828798|PMID:16865695|PMID:17105773|PMID:17221859|PMID:17325244|PMID:17439987|PMID:17626518|PMID:18414213|PMID:18539904|PMID:18653338|PMID:19181099|PMID:20448486|PMID:20474083|PMID:20696008|PMID:20718792|PMID:20981092|PMID:21262226|PMID:21520333|PMID:21842594|PMID:22153487|PMID:22215463|PMID:22337857|PMID:23143191|PMID:23168288|PMID:23299917|PMID:23396983|PMID:23575897|PMID:23806086|PMID:23861362|PMID:24033266|PMID:24088041|PMID:24503780|PMID:25214167|PMID:25333361|PMID:25394388|PMID:25617006|PMID:25736269|PMID:25741868|PMID:25928149|PMID:26265630|PMID:26272908|PMID:26467025|PMID:26724190|PMID:27393313|PMID:27532257|PMID:27697855|PMID:27896284|PMID:27930701|PMID:28171858|PMID:28341588|PMID:28416588|PMID:28470624|PMID:28492532|PMID:28588093|PMID:28798025|PMID:29247119|PMID:29382405|PMID:29447731|PMID:29915097|PMID:29926427|PMID:29997562|PMID:30190612|PMID:30403391|PMID:30531895|PMID:30615648|PMID:30677492|PMID:30755392|PMID:30764827|PMID:30847666|PMID:31953240|PMID:32093415|PMID:32142595|PMID:32150461|PMID:32235386|PMID:32268277|PMID:32397162|PMID:32403337|PMID:32528171|PMID:32880476|PMID:33652119|PMID:34011823|PMID:34426522|PMID:36497166|PMID:5828910|PMID:9697706 12372873 DES desmin gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12372873 DES desmin gene DOID:11372 megacolon ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12372873 DES desmin gene DOID:1148 polydactyly ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 12372873 DES desmin gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23687351|PMID:30055862 12372873 DES desmin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1551179 D RGD:9068941 20200609 RGD PMID:10591032|REF_RGD_ID:13525010 12372873 DES desmin gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary alveolar proteinosis PMID:24033266|PMID:24503780|PMID:25741868|PMID:26265630|PMID:26724190|PMID:28341588|PMID:28492532|PMID:30755392|PMID:32268277|PMID:32403337 12372873 DES desmin gene DOID:12716 newborn respiratory distress syndrome ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:24033266|PMID:24503780|PMID:25741868|PMID:26265630|PMID:26724190|PMID:28341588|PMID:28492532|PMID:30755392|PMID:32268277|PMID:32403337 12372873 DES desmin gene DOID:12930 dilated cardiomyopathy ISO RGD:1347887 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10717012|PMID:11073539|PMID:12620971|PMID:14724127|PMID:15800015|PMID:17221859|PMID:17325244|PMID:17439987|PMID:17720647|PMID:18061454|PMID:18653338|PMID:19151983|PMID:19181099|PMID:19587455|PMID:19716701|PMID:19763525|PMID:19879535|PMID:20171226|PMID:20423733|PMID:20448486|PMID:20474083|PMID:20696008|PMID:20981092|PMID:22106715|PMID:22153487|PMID:22215463|PMID:22275259|PMID:22337857|PMID:22403400|PMID:22484823|PMID:23143191|PMID:23155419|PMID:23299917|PMID:23349452|PMID:23815709|PMID:23861362|PMID:24033266|PMID:24088041|PMID:24503780|PMID:25394388|PMID:25557463|PMID:25590979|PMID:25617006|PMID:25741868|PMID:26467025|PMID:26633545|PMID:27393313|PMID:27532257|PMID:27810088|PMID:27854218|PMID:27896284|PMID:28256728|PMID:28492532|PMID:28611029|PMID:29247119|PMID:29386531|PMID:29915714|PMID:29926427|PMID:30023281|PMID:30615648|PMID:31609036|PMID:31912959|PMID:32093415|PMID:32403337|PMID:34426522|PMID:9382102 12372873 DES desmin gene DOID:12930 dilated cardiomyopathy ISO RGD:1347887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10717012|PMID:11073539|PMID:12620971|PMID:14724127|PMID:15800015|PMID:17221859|PMID:17325244|PMID:17439987|PMID:17576681|PMID:17720647|PMID:18061454|PMID:18653338|PMID:19151983|PMID:19181099|PMID:19587455|PMID:19716701|PMID:19763525|PMID:19879535|PMID:20171226|PMID:20423733|PMID:20448486|PMID:20474083|PMID:20696008|PMID:20981092|PMID:22106715|PMID:22153487|PMID:22215463|PMID:22275259|PMID:22337857|PMID:22403400|PMID:22484823|PMID:23143191|PMID:23155419|PMID:23299917|PMID:23349452|PMID:23575897|PMID:23815709|PMID:23861362|PMID:24033266|PMID:24088041|PMID:24503780|PMID:25394388|PMID:25557463|PMID:25590979|PMID:25617006|PMID:25741868|PMID:26097489|PMID:26467025|PMID:26633545|PMID:27393313|PMID:27532257|PMID:27810088|PMID:27854218|PMID:27896284|PMID:28256728|PMID:28492532|PMID:28611029|PMID:29247119|PMID:29386531|PMID:29915714|PMID:29926427|PMID:30023281|PMID:30615648|PMID:31609036|PMID:31912959|PMID:32093415|PMID:32403337|PMID:33874732|PMID:34426522|PMID:9382102|PMID:9536098 12372873 DES desmin gene DOID:2527 nephrosis ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16418842 12372873 DES desmin gene DOID:2921 glomerulonephritis ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20962747 12372873 DES desmin gene DOID:305 carcinoma ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12372873 DES desmin gene DOID:3082 interstitial lung disease ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Interstitial lung disease PMID:24033266|PMID:24503780|PMID:25741868|PMID:26265630|PMID:26724190|PMID:28341588|PMID:28492532|PMID:30755392|PMID:32268277|PMID:32403337 12372873 DES desmin gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:14724127|PMID:15477095|PMID:16217025|PMID:16519886|PMID:16828798|PMID:16865695|PMID:17325244|PMID:17626518|PMID:20474083|PMID:21842594|PMID:22215463|PMID:23143191|PMID:23168288|PMID:23806086|PMID:23861362|PMID:24033266|PMID:24088041|PMID:25214167|PMID:25736269|PMID:25741868|PMID:26467025|PMID:28492532 12372873 DES desmin gene DOID:397 restrictive cardiomyopathy ISO RGD:1347887 D RGD:9068941 20200609 RGD PMID:11298680|REF_RGD_ID:1580290 12372873 DES desmin gene DOID:423 myopathy ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myopathy PMID:24033266|PMID:24503780|PMID:25741868|PMID:26265630|PMID:26724190|PMID:28341588|PMID:28492532|PMID:30755392|PMID:32268277|PMID:32403337 12372873 DES desmin gene DOID:440 neuromuscular disease ISO RGD:1347887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuromuscular disorder PMID:10717012|PMID:11073539|PMID:12620971|PMID:14724127|PMID:17221859|PMID:18653338|PMID:19151983|PMID:19587455|PMID:19716701|PMID:20171226|PMID:20423733|PMID:20448486|PMID:20696008|PMID:22106715|PMID:22153487|PMID:22403400|PMID:23349452|PMID:23575897|PMID:23815709|PMID:24033266|PMID:24503780|PMID:25557463|PMID:25590979|PMID:25741868|PMID:26467025|PMID:27810088|PMID:27854218|PMID:28256728|PMID:28492532|PMID:28611029|PMID:29915714|PMID:30023281|PMID:31912959|PMID:33874732 12372873 DES desmin gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12372873 DES desmin gene DOID:630 genetic disease ISO RGD:1347887 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12372873 DES desmin gene DOID:9000217 Stomach Neoplasms ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 12372873 DES desmin gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12372873 DES desmin gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1347887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:24033266|PMID:25741868|PMID:27697855|PMID:27930701|PMID:28492532|PMID:28798025|PMID:29926427|PMID:30190612|PMID:30847666|PMID:32142595|PMID:32880476 12372873 DES desmin gene DOID:9000655 Hereditary Motor Neuropathy with Myopathic Features ISO RGD:1347887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuromyopathy PMID:10717012|PMID:11073539|PMID:12620971|PMID:14724127|PMID:17221859|PMID:18653338|PMID:19151983|PMID:19587455|PMID:19716701|PMID:20171226|PMID:20423733|PMID:20448486|PMID:20696008|PMID:22106715|PMID:22153487|PMID:22403400|PMID:23349452|PMID:23575897|PMID:23815709|PMID:24033266|PMID:24503780|PMID:25557463|PMID:25590979|PMID:25741868|PMID:26467025|PMID:27810088|PMID:27854218|PMID:28256728|PMID:28492532|PMID:28611029|PMID:29915714|PMID:30023281|PMID:31912959|PMID:33874732 12372873 DES desmin gene DOID:9002231 Fetal Growth Retardation ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28157488 12372873 DES desmin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12372873 DES desmin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12372873 DES desmin gene DOID:9005603 Muscle Hypotonia ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:24033266|PMID:24503780|PMID:25741868|PMID:26265630|PMID:26724190|PMID:28341588|PMID:28492532 12372873 DES desmin gene DOID:9005603 Muscle Hypotonia ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:24033266|PMID:24503780|PMID:25741868|PMID:26265630|PMID:26724190|PMID:28341588|PMID:28492532|PMID:30755392|PMID:32268277|PMID:32403337 12372873 DES desmin gene DOID:9005605 Arteriovenous Fistula ISO RGD:620686 D RGD:9068941 20200609 RGD PMID:10591032|REF_RGD_ID:13525010 12372873 DES desmin gene DOID:9008939 Breast Neoplasms ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 12372873 DES desmin gene DOID:9279 hyperhomocysteinemia ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20116427 12372873 DES desmin gene DOID:988 mitral valve prolapse ISO RGD:1347887 D RGD:9068941 20200609 RGD protein:altered expression:;eft ventricule PMID:27464577|REF_RGD_ID:13542088 12372884 LOC607014 uncharacterized protein C14orf119 homolog gene DOID:0060439 lysinuric protein intolerance ISO RGD:1318193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12372884 LOC607014 uncharacterized protein C14orf119 homolog gene DOID:0080600 COVID-19 ISO RGD:1318193 D RGD:9068941 20201203 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12372884 LOC607014 uncharacterized protein C14orf119 homolog gene DOID:9000265 Specific Granule Deficiency ISO RGD:1318193 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12372884 LOC607014 uncharacterized protein C14orf119 homolog gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1318193 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12372889 LMLN leishmanolysin like peptidase gene DOID:10283 prostate cancer ISO RGD:1322938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12372889 LMLN leishmanolysin like peptidase gene DOID:630 genetic disease ISO RGD:1322938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372910 LLGL2 LLGL scribble cell polarity complex component 2 gene DOID:0080600 COVID-19 ISO RGD:1353110 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12372910 LLGL2 LLGL scribble cell polarity complex component 2 gene DOID:630 genetic disease ISO RGD:1353110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372910 LLGL2 LLGL scribble cell polarity complex component 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 12372910 LLGL2 LLGL scribble cell polarity complex component 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1353110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 12372946 OR5AN1 olfactory receptor family 5 subfamily AN member 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1349496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12372946 OR5AN1 olfactory receptor family 5 subfamily AN member 1 gene DOID:1059 intellectual disability ISO RGD:1349496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12372946 OR5AN1 olfactory receptor family 5 subfamily AN member 1 gene DOID:630 genetic disease ISO RGD:1349496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372949 FAM167B family with sequence similarity 167 member B gene DOID:630 genetic disease ISO RGD:1606487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372949 FAM167B family with sequence similarity 167 member B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12372959 SLC22A11 solute carrier family 22 member 11 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1353940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12372959 SLC22A11 solute carrier family 22 member 11 gene DOID:1059 intellectual disability ISO RGD:1353940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12372959 SLC22A11 solute carrier family 22 member 11 gene DOID:3070 high grade glioma ISO RGD:1353940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12372959 SLC22A11 solute carrier family 22 member 11 gene DOID:630 genetic disease ISO RGD:1353940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372974 RENBP renin binding protein gene DOID:0050454 periventricular nodular heterotopia ISO RGD:732186 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12372974 RENBP renin binding protein gene DOID:0050476 Barth syndrome ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12372974 RENBP renin binding protein gene DOID:0050800 creatine transporter deficiency ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 12372974 RENBP renin binding protein gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 12372974 RENBP renin binding protein gene DOID:0080600 COVID-19 ISO RGD:732186 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12372974 RENBP renin binding protein gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 12372974 RENBP renin binding protein gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 12372974 RENBP renin binding protein gene DOID:0111788 Melnick-Needles syndrome ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 12372974 RENBP renin binding protein gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 12372974 RENBP renin binding protein gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:732186 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 12372974 RENBP renin binding protein gene DOID:0112003 immunodeficiency 33 ISO RGD:732186 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12372974 RENBP renin binding protein gene DOID:10588 adrenoleukodystrophy ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12372974 RENBP renin binding protein gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12372974 RENBP renin binding protein gene DOID:12849 autistic disorder ISO RGD:732186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12372974 RENBP renin binding protein gene DOID:12930 dilated cardiomyopathy ISO RGD:732186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12612874 12372974 RENBP renin binding protein gene DOID:13628 favism ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12372974 RENBP renin binding protein gene DOID:2729 dyskeratosis congenita ISO RGD:732186 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12372974 RENBP renin binding protein gene DOID:607 paraplegia ISO RGD:732186 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12372974 RENBP renin binding protein gene DOID:630 genetic disease ISO RGD:732186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12372974 RENBP renin binding protein gene DOID:9002720 Splenomegaly ISO RGD:732186 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12372974 RENBP renin binding protein gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 12372974 RENBP renin binding protein gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 12372989 LOC751814 serum amyloid A1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1351382 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 12372989 LOC751814 serum amyloid A1 gene DOID:1059 intellectual disability ISO RGD:1351382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12373008 ASMT acetylserotonin O-methyltransferase gene DOID:12849 autistic disorder ISO RGD:1353638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12373008 ASMT acetylserotonin O-methyltransferase gene DOID:893 Wilson disease ISO RGD:1353638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 12373018 ADAD2 adenosine deaminase domain containing 2 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1602291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 12373018 ADAD2 adenosine deaminase domain containing 2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1602291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12373018 ADAD2 adenosine deaminase domain containing 2 gene DOID:630 genetic disease ISO RGD:1602291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373041 ANKRD63 ankyrin repeat domain 63 gene DOID:2717 Bloom syndrome ISO RGD:5132170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12373041 ANKRD63 ankyrin repeat domain 63 gene DOID:630 genetic disease ISO RGD:5132170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373041 ANKRD63 ankyrin repeat domain 63 gene DOID:9256 colorectal cancer ISO RGD:5132170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12373046 CNPY1 canopy FGF signaling regulator 1 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1603862 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 12373046 CNPY1 canopy FGF signaling regulator 1 gene DOID:12849 autistic disorder ISO RGD:1603862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12373046 CNPY1 canopy FGF signaling regulator 1 gene DOID:630 genetic disease ISO RGD:1603862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373160 TNF tumor necrosis factor gene DOID:0040084 Streptococcus pneumonia ISO RGD:11429 D RGD:9068941 20201117 RGD protein:increased expression:lung,natural killer cell (mouse) PMID:21887255|REF_RGD_ID:40818252 12373160 TNF tumor necrosis factor gene DOID:0050117 disease by infectious agent ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16513158 12373160 TNF tumor necrosis factor gene DOID:0050152 aspiration pneumonia ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:Bronchoalveolar Lavage Fluid PMID:18042282|REF_RGD_ID:4142854 12373160 TNF tumor necrosis factor gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:11429 D RGD:9068941 20220825 MouseDO OMIM:178500 12373160 TNF tumor necrosis factor gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1344192 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:8473757 12373160 TNF tumor necrosis factor gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:blister: PMID:9852250|REF_RGD_ID:7401184 12373160 TNF tumor necrosis factor gene DOID:0050452 mevalonic aciduria ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:7780142|REF_RGD_ID:9585642 12373160 TNF tumor necrosis factor gene DOID:0050475 Weill-Marchesani syndrome ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:15223607|REF_RGD_ID:9150949 12373160 TNF tumor necrosis factor gene DOID:0050553 JMP syndrome ISO RGD:1344192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12373160 TNF tumor necrosis factor gene DOID:0050589 inflammatory bowel disease ISO RGD:11429 D RGD:9068941 20220825 MouseDO 12373160 TNF tumor necrosis factor gene DOID:0050589 inflammatory bowel disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15086448|PMID:27793764 12373160 TNF tumor necrosis factor gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:12184521|REF_RGD_ID:10450573 12373160 TNF tumor necrosis factor gene DOID:0050642 hypochromic microcytic anemia ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid PMID:18205195|REF_RGD_ID:10450526 12373160 TNF tumor necrosis factor gene DOID:0050685 small cell carcinoma severity ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:decreased secretion:whole blood PMID:8624296|REF_RGD_ID:4142840 12373160 TNF tumor necrosis factor gene DOID:0050697 chorioamnionitis no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Premature Birth;DNA:SNP:promoter:c.-308 G>A (human) PMID:15128916|REF_RGD_ID:12904055 12373160 TNF tumor necrosis factor gene DOID:0050697 chorioamnionitis severity ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Premature Birth;DNA:SNP:promoter:c.-238G>A (human) PMID:15128916|REF_RGD_ID:12904055 12373160 TNF tumor necrosis factor gene DOID:0050700 cardiomyopathy ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10716473 12373160 TNF tumor necrosis factor gene DOID:0050700 cardiomyopathy treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24441175|REF_RGD_ID:10450596 12373160 TNF tumor necrosis factor gene DOID:0050848 obstructive sleep apnea ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:14633242|PMID:20846669|REF_RGD_ID:4142857|REF_RGD_ID:4143435 12373160 TNF tumor necrosis factor gene DOID:0050848 obstructive sleep apnea susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: c.-308G>A (human) PMID:19022640|REF_RGD_ID:4143442 12373160 TNF tumor necrosis factor gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:3876 D RGD:9068941 20220715 RGD associated with social isolation;protein:increased expression:tongue (rat) PMID:33411841|REF_RGD_ID:152998999 12373160 TNF tumor necrosis factor gene DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:24119107|REF_RGD_ID:10059681 12373160 TNF tumor necrosis factor gene DOID:0050908 myelodysplastic syndrome ISO RGD:1344192 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow PMID:10697556|REF_RGD_ID:10450881 12373160 TNF tumor necrosis factor gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15888251|REF_RGD_ID:10450530 12373160 TNF tumor necrosis factor gene DOID:0060180 colitis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23810507|PMID:24548422 12373160 TNF tumor necrosis factor gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12373160 TNF tumor necrosis factor gene DOID:0060224 atrial fibrillation ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Heart Valve Diseases;protein:increased expression:right atrium: PMID:19169931|REF_RGD_ID:7401239 12373160 TNF tumor necrosis factor gene DOID:0060319 cardiac arrest ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9806674 12373160 TNF tumor necrosis factor gene DOID:0060319 cardiac arrest ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:18679114|REF_RGD_ID:4889454 12373160 TNF tumor necrosis factor gene DOID:0060496 respiratory allergy ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18394133 12373160 TNF tumor necrosis factor gene DOID:0060500 drug allergy ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11294926|PMID:20485159 12373160 TNF tumor necrosis factor gene DOID:0060643 primary sclerosing cholangitis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9047083|REF_RGD_ID:14995307 12373160 TNF tumor necrosis factor gene DOID:0060903 thrombosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19691487 12373160 TNF tumor necrosis factor gene DOID:0070227 intrahepatic cholestasis of pregnancy ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23627780 12373160 TNF tumor necrosis factor gene DOID:0080158 herpes simplex virus keratitis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:12162877|REF_RGD_ID:8157603 12373160 TNF tumor necrosis factor gene DOID:0080158 herpes simplex virus keratitis ISO RGD:11429 D RGD:9068941 20200609 RGD mRNA:increased expression:cornea PMID:10624423|REF_RGD_ID:7401196 12373160 TNF tumor necrosis factor gene DOID:0080160 cytomegalovirus retinitis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:22072377|REF_RGD_ID:7394768 12373160 TNF tumor necrosis factor gene DOID:0080160 cytomegalovirus retinitis ISO RGD:11429 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:eye: PMID:17389501|REF_RGD_ID:7394808 12373160 TNF tumor necrosis factor gene DOID:0080162 lupus nephritis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:glomerular mesangial cell PMID:7750940|REF_RGD_ID:7394786 12373160 TNF tumor necrosis factor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1344192 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32613381 12373160 TNF tumor necrosis factor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:serum, liver (rat) PMID:19034968|REF_RGD_ID:14995482 12373160 TNF tumor necrosis factor gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with morbid obesity PMID:25894568|REF_RGD_ID:14975151 12373160 TNF tumor necrosis factor gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:25219124|REF_RGD_ID:10450574 12373160 TNF tumor necrosis factor gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:11429 D RGD:9068941 20210702 RGD mRNA:increased expression:liver (mouse) PMID:28100771|REF_RGD_ID:127285675 12373160 TNF tumor necrosis factor gene DOID:0080547 non-alcoholic steatohepatitis susceptibility ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:20606728|REF_RGD_ID:21076282 12373160 TNF tumor necrosis factor gene DOID:0080599 Coronavirus infectious disease ISO RGD:11429 D RGD:9068941 20200618 RGD PMID:19906920|REF_RGD_ID:4891446 12373160 TNF tumor necrosis factor gene DOID:0080600 COVID-19 ISO RGD:1344192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease (COVID-19) PMID:10450718|PMID:11261930|PMID:11506397|PMID:11826025|PMID:11896460|PMID:12485196|PMID:12746914|PMID:12759288|PMID:14681301|PMID:14718719|PMID:16418737|PMID:16720636|PMID:16865291|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668|PMID:8056188|PMID:9818939 12373160 TNF tumor necrosis factor gene DOID:0080600 COVID-19 disease_progression ISO RGD:1344192 D RGD:9068941 20200618 RGD associated with diabetes mellitus PMID:32345579|REF_RGD_ID:30296681 12373160 TNF tumor necrosis factor gene DOID:0080600 COVID-19 severity ISO RGD:1344192 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 12373160 TNF tumor necrosis factor gene DOID:0080600 COVID-19 severity ISO RGD:1344192 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32365221|PMID:32427582|REF_RGD_ID:30309200|REF_RGD_ID:30310229 12373160 TNF tumor necrosis factor gene DOID:0080642 Middle East respiratory syndrome ISO RGD:11429 D RGD:9068941 20200625 RGD protein:increased expression:serum: PMID:30634407|REF_RGD_ID:30309958 12373160 TNF tumor necrosis factor gene DOID:0080745 polymyositis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12373160 TNF tumor necrosis factor gene DOID:0080750 erythema nodosum susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Inflammatory Bowel Diseases;DNA:polymorphisms: :-1031T>C(human) PMID:12198697|REF_RGD_ID:7364926 12373160 TNF tumor necrosis factor gene DOID:0080820 occupational asthma ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25721048 12373160 TNF tumor necrosis factor gene DOID:0080855 Parkinsonism treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:21831964|PMID:28338241|REF_RGD_ID:13503338|REF_RGD_ID:7247422 12373160 TNF tumor necrosis factor gene DOID:0081120 Graves ophthalmopathy ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:8444271|REF_RGD_ID:7794734 12373160 TNF tumor necrosis factor gene DOID:0081120 Graves ophthalmopathy ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-863C>A (human) PMID:16191343|REF_RGD_ID:12904066 12373160 TNF tumor necrosis factor gene DOID:0081120 Graves ophthalmopathy susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-238G>A (rs361525) (human) PMID:15219383|REF_RGD_ID:7365073 12373160 TNF tumor necrosis factor gene DOID:0081292 traumatic brain injury ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28642177 12373160 TNF tumor necrosis factor gene DOID:0110429 dilated cardiomyopathy 1H severity ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:14676433|REF_RGD_ID:7401234 12373160 TNF tumor necrosis factor gene DOID:10003 sensorineural hearing loss ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:16988499|PMID:23165380|REF_RGD_ID:7387303|REF_RGD_ID:7394704 12373160 TNF tumor necrosis factor gene DOID:10003 sensorineural hearing loss ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Hearing Loss, Sensorineural;protein:increased expression:serum: PMID:19684145|REF_RGD_ID:8142347 12373160 TNF tumor necrosis factor gene DOID:10140 dry eye syndrome treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:23211823|REF_RGD_ID:8694422 12373160 TNF tumor necrosis factor gene DOID:10223 dermatomyositis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19035492 12373160 TNF tumor necrosis factor gene DOID:1024 leprosy susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:−308G>A (human) PMID:20650301|REF_RGD_ID:8694069 12373160 TNF tumor necrosis factor gene DOID:10241 thalassemia ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11732868|REF_RGD_ID:10450569 12373160 TNF tumor necrosis factor gene DOID:10247 pleurisy ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:11161459|REF_RGD_ID:4143474 12373160 TNF tumor necrosis factor gene DOID:10247 pleurisy ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422|PMID:15380531 12373160 TNF tumor necrosis factor gene DOID:10247 pleurisy ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:20141620|REF_RGD_ID:4142808 12373160 TNF tumor necrosis factor gene DOID:10283 prostate cancer ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:19851870|REF_RGD_ID:2315114 12373160 TNF tumor necrosis factor gene DOID:10320 asbestosis ISO RGD:1344192 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:20486865|PMID:8473757 12373160 TNF tumor necrosis factor gene DOID:10322 berylliosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12449171|PMID:15127972|PMID:16980557|PMID:8428540 12373160 TNF tumor necrosis factor gene DOID:10325 silicosis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:11264025|REF_RGD_ID:4142816 12373160 TNF tumor necrosis factor gene DOID:10325 silicosis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:25199287|REF_RGD_ID:10450591 12373160 TNF tumor necrosis factor gene DOID:10327 anthracosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20005085 12373160 TNF tumor necrosis factor gene DOID:10533 viral pneumonia treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:25219125|REF_RGD_ID:10450576 12373160 TNF tumor necrosis factor gene DOID:10591 pre-eclampsia ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:15901845|REF_RGD_ID:1580314 12373160 TNF tumor necrosis factor gene DOID:10591 pre-eclampsia ameliorates ISO RGD:3876 D RGD:9068941 20230323 RGD PMID:31203154|REF_RGD_ID:213230155 12373160 TNF tumor necrosis factor gene DOID:10652 Alzheimer's disease ISO RGD:1344192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, protection against PMID:10400991|PMID:16908746 12373160 TNF tumor necrosis factor gene DOID:10652 Alzheimer's disease no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-308G>A(human) PMID:15468911|REF_RGD_ID:13825256 12373160 TNF tumor necrosis factor gene DOID:10652 Alzheimer's disease no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:multiple(human) PMID:18834925|REF_RGD_ID:13825257 12373160 TNF tumor necrosis factor gene DOID:10652 Alzheimer's disease onset ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-308G>A(human) PMID:16516271|REF_RGD_ID:13825253 12373160 TNF tumor necrosis factor gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-308G>A(human) PMID:18992723|REF_RGD_ID:13825248 12373160 TNF tumor necrosis factor gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP: :-308G>A(rs1800629)(human) PMID:20357201|REF_RGD_ID:7387247 12373160 TNF tumor necrosis factor gene DOID:1070 primary open angle glaucoma ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:promoter:-857C>T, -863C>A (human) PMID:15557444|REF_RGD_ID:7775041 12373160 TNF tumor necrosis factor gene DOID:1073 renal hypertension ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22188107|REF_RGD_ID:6907405 12373160 TNF tumor necrosis factor gene DOID:10754 otitis media ISO RGD:11429 D RGD:9068941 20200609 RGD protein:increased expression:ear: PMID:21818352|REF_RGD_ID:7394703 12373160 TNF tumor necrosis factor gene DOID:10754 otitis media ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:22173336|REF_RGD_ID:7401215 12373160 TNF tumor necrosis factor gene DOID:10754 otitis media ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Haemophilus Infections; mRNA, protein:increased expression:middle ear PMID:18524391|REF_RGD_ID:4891398 12373160 TNF tumor necrosis factor gene DOID:10754 otitis media ISO RGD:8789275 D RGD:9068941 20200609 RGD PMID:10085040|REF_RGD_ID:11553900 12373160 TNF tumor necrosis factor gene DOID:10762 portal hypertension ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach (rat) PMID:9198288|PMID:9834372|REF_RGD_ID:14688051|REF_RGD_ID:14995426 12373160 TNF tumor necrosis factor gene DOID:10762 portal hypertension treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:10070045|PMID:7875478|PMID:9537427|REF_RGD_ID:14975128|REF_RGD_ID:14985259|REF_RGD_ID:14995425 12373160 TNF tumor necrosis factor gene DOID:10763 hypertension ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:16202847|REF_RGD_ID:1580312 12373160 TNF tumor necrosis factor gene DOID:10763 hypertension ISO RGD:1344192 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:18605955|PMID:27292124|PMID:27659729|PMID:27847271|PMID:32147540 12373160 TNF tumor necrosis factor gene DOID:10763 hypertension ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:9590569|REF_RGD_ID:1357163 12373160 TNF tumor necrosis factor gene DOID:10763 hypertension treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:16415373|REF_RGD_ID:1580207 12373160 TNF tumor necrosis factor gene DOID:10808 gastric ulcer ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15138204 12373160 TNF tumor necrosis factor gene DOID:10825 essential hypertension ISO RGD:1344192 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 12373160 TNF tumor necrosis factor gene DOID:10923 sickle cell anemia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14965870 12373160 TNF tumor necrosis factor gene DOID:10923 sickle cell anemia ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8140855|REF_RGD_ID:10449460 12373160 TNF tumor necrosis factor gene DOID:10941 intracranial aneurysm treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24628611|REF_RGD_ID:10450592 12373160 TNF tumor necrosis factor gene DOID:10964 cholesteatoma of middle ear ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Otitis Media;protein:increased expression:ear: PMID:21311206|REF_RGD_ID:7364848 12373160 TNF tumor necrosis factor gene DOID:11054 urinary bladder cancer ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1674182 12373160 TNF tumor necrosis factor gene DOID:1115 sarcoma ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15675481|PMID:16767912|PMID:17203757|PMID:9794839 12373160 TNF tumor necrosis factor gene DOID:11168 anogenital venereal wart ISO RGD:1344192 D RGD:9068941 20201105 RGD protein:increased expression:peripheral blood mononuclear cells (human) PMID:23754510|REF_RGD_ID:40400714 12373160 TNF tumor necrosis factor gene DOID:1123 spondyloarthropathy ISO RGD:11429 D RGD:9068941 20220825 MouseDO OMIM:106300 12373160 TNF tumor necrosis factor gene DOID:11247 disseminated intravascular coagulation severity ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Hemorrhagic Fever, Crimean PMID:16518755|REF_RGD_ID:10450536 12373160 TNF tumor necrosis factor gene DOID:11263 chlamydia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19203382 12373160 TNF tumor necrosis factor gene DOID:11265 trachoma ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP, haplotypes:promoter:−308G>A (human) PMID:17330135|REF_RGD_ID:8548830 12373160 TNF tumor necrosis factor gene DOID:11372 megacolon ISO RGD:1344192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12373160 TNF tumor necrosis factor gene DOID:11394 adult respiratory distress syndrome ISO RGD:1344192 D RGD:9068941 20200609 RGD associated lung injury; DNA:polymorphism:promoter: PMID:16135717|REF_RGD_ID:4143247 12373160 TNF tumor necrosis factor gene DOID:11394 adult respiratory distress syndrome ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21062445|REF_RGD_ID:5128683 12373160 TNF tumor necrosis factor gene DOID:11396 pulmonary edema ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:Bronchoalveolar Lavage Fluid PMID:9628235|REF_RGD_ID:4142833 12373160 TNF tumor necrosis factor gene DOID:11396 pulmonary edema ISO RGD:1344192 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21188088|PMID:34390737 12373160 TNF tumor necrosis factor gene DOID:11446 sciatic neuropathy treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:22173123|REF_RGD_ID:7364836 12373160 TNF tumor necrosis factor gene DOID:11573 listeriosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16751399 12373160 TNF tumor necrosis factor gene DOID:11650 bronchopulmonary dysplasia no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (human) PMID:15286263|REF_RGD_ID:12904049 12373160 TNF tumor necrosis factor gene DOID:11650 bronchopulmonary dysplasia severity ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-238A>G (human) PMID:15286263|REF_RGD_ID:12904049 12373160 TNF tumor necrosis factor gene DOID:11656 cicatricial pemphigoid ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:Conjunctiva: PMID:7750940|REF_RGD_ID:7394786 12373160 TNF tumor necrosis factor gene DOID:11713 diabetic angiopathy susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:c.-308G>A (human) PMID:18575614|REF_RGD_ID:2313255 12373160 TNF tumor necrosis factor gene DOID:11758 iron deficiency anemia ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs1800629 (human) PMID:18716131|REF_RGD_ID:10450563 12373160 TNF tumor necrosis factor gene DOID:11823 hepatorenal syndrome ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18093430|REF_RGD_ID:4144102 12373160 TNF tumor necrosis factor gene DOID:11832 visual epilepsy ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:23333565|REF_RGD_ID:7245573 12373160 TNF tumor necrosis factor gene DOID:11832 visual epilepsy ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:23333565|REF_RGD_ID:7245573 12373160 TNF tumor necrosis factor gene DOID:11963 esophagitis susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung: DNA:SNPs: :rs1799724(human) PMID:20811626|REF_RGD_ID:5131286 12373160 TNF tumor necrosis factor gene DOID:1205 allergic disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16095146|PMID:21625544 12373160 TNF tumor necrosis factor gene DOID:12098 trigeminal neuralgia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12373160 TNF tumor necrosis factor gene DOID:12236 primary biliary cholangitis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9047083|REF_RGD_ID:14995307 12373160 TNF tumor necrosis factor gene DOID:12236 primary biliary cholangitis ISO RGD:1344192 D RGD:9068941 20200820 RGD mRNA:increased expression:liver PMID:17158635|REF_RGD_ID:38501106 12373160 TNF tumor necrosis factor gene DOID:12241 beta thalassemia ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphisms:3' utr PMID:19103526|REF_RGD_ID:10449458 12373160 TNF tumor necrosis factor gene DOID:1227 neutropenia ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:15986200|REF_RGD_ID:1580321 12373160 TNF tumor necrosis factor gene DOID:12297 Vogt-Koyanagi-Harada disease ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with uveitis;protein:increased expression:aqueous humor: PMID:21334264|REF_RGD_ID:8142356 12373160 TNF tumor necrosis factor gene DOID:12306 vitiligo ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28836394 12373160 TNF tumor necrosis factor gene DOID:12306 vitiligo ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:16911396|REF_RGD_ID:7794736 12373160 TNF tumor necrosis factor gene DOID:12351 alcoholic hepatitis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12586603 12373160 TNF tumor necrosis factor gene DOID:12351 alcoholic hepatitis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 12373160 TNF tumor necrosis factor gene DOID:12361 Graves' disease susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP: :-308G>A(rs1800629)(human) PMID:15219383|REF_RGD_ID:7365073 12373160 TNF tumor necrosis factor gene DOID:12361 Graves' disease susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs: :-238G>A(rs361525),419G>A(rs3093661)(human) PMID:19732761|REF_RGD_ID:7394807 12373160 TNF tumor necrosis factor gene DOID:12361 Graves' disease susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism: :-863A>C PMID:17348243|REF_RGD_ID:7394790 12373160 TNF tumor necrosis factor gene DOID:12365 malaria ISO RGD:1344192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malaria, cerebral, susceptibility to PMID:10369255|PMID:10450718|PMID:11261930|PMID:11506397|PMID:11826025|PMID:11896460|PMID:12485196|PMID:12746914|PMID:12759288|PMID:14681301|PMID:14718719|PMID:16418737|PMID:16720636|PMID:16865291|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668|PMID:8056188|PMID:9818939 12373160 TNF tumor necrosis factor gene DOID:12365 malaria susceptibility ISO RGD:1344192 D RGD:7240710 20190502 OMIM 12373160 TNF tumor necrosis factor gene DOID:12449 aplastic anemia ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (human) PMID:12941546|REF_RGD_ID:10449452 12373160 TNF tumor necrosis factor gene DOID:12549 hepatitis A ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9047083|REF_RGD_ID:14995307 12373160 TNF tumor necrosis factor gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15384034 12373160 TNF tumor necrosis factor gene DOID:12662 paracoccidioidomycosis susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:−308G>A(human) PMID:17145373|REF_RGD_ID:7401182 12373160 TNF tumor necrosis factor gene DOID:12678 hypercalcemia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10638776 12373160 TNF tumor necrosis factor gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:decreased expression:blood, lymphocyte PMID:16611101|REF_RGD_ID:10450733 12373160 TNF tumor necrosis factor gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:11429 D RGD:9068941 20200609 RGD protein:increased expression:Bronchoalveolar lavage fluid PMID:15791294|REF_RGD_ID:4145715 12373160 TNF tumor necrosis factor gene DOID:12732 intermediate uveitis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs: :rs361525,rs1800629(human) PMID:23378732|REF_RGD_ID:7365041 12373160 TNF tumor necrosis factor gene DOID:12783 migraine without aura ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:14718719|REF_RGD_ID:1580316 12373160 TNF tumor necrosis factor gene DOID:12800 mucopolysaccharidosis VI treatment ISO RGD:3876 D RGD:9068941 20210514 RGD PMID:21887218|REF_RGD_ID:39131283 12373160 TNF tumor necrosis factor gene DOID:12849 autistic disorder treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:26418275|REF_RGD_ID:12792236 12373160 TNF tumor necrosis factor gene DOID:12894 Sjogren's syndrome ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1031T>C(human) PMID:22703762|REF_RGD_ID:7394766 12373160 TNF tumor necrosis factor gene DOID:12894 Sjogren's syndrome treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24941846|REF_RGD_ID:10450595 12373160 TNF tumor necrosis factor gene DOID:12895 keratoconjunctivitis sicca ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Sjogren's Syndrome;mRNA:increased expression:conjunctiva: PMID:10487957|REF_RGD_ID:7829756 12373160 TNF tumor necrosis factor gene DOID:12930 dilated cardiomyopathy ISO RGD:11429 D RGD:9068941 20220825 MouseDO 12373160 TNF tumor necrosis factor gene DOID:12930 dilated cardiomyopathy ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:14984724|REF_RGD_ID:7401238 12373160 TNF tumor necrosis factor gene DOID:13088 periventricular leukomalacia ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:8652010|REF_RGD_ID:12904655 12373160 TNF tumor necrosis factor gene DOID:13088 periventricular leukomalacia ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:15765524|REF_RGD_ID:1580604 12373160 TNF tumor necrosis factor gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:11429 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21221075|REF_RGD_ID:7245511 12373160 TNF tumor necrosis factor gene DOID:13141 uveitis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:1318867|PMID:20673052|REF_RGD_ID:7394761|REF_RGD_ID:7401178 12373160 TNF tumor necrosis factor gene DOID:13141 uveitis ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Behcet Syndrome; protein:increased expression:serum: PMID:15209464|REF_RGD_ID:7387294 12373160 TNF tumor necrosis factor gene DOID:13141 uveitis ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:8125721|REF_RGD_ID:7401166 12373160 TNF tumor necrosis factor gene DOID:13141 uveitis disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum,Aqueous Humor: PMID:11586057|REF_RGD_ID:7394806 12373160 TNF tumor necrosis factor gene DOID:13141 uveitis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:19440225|REF_RGD_ID:13825264 12373160 TNF tumor necrosis factor gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:8699818|REF_RGD_ID:7794730 12373160 TNF tumor necrosis factor gene DOID:13241 Behcet's disease ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:20601837|REF_RGD_ID:7394759 12373160 TNF tumor necrosis factor gene DOID:13241 Behcet's disease ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter PMID:12632436|REF_RGD_ID:12904036 12373160 TNF tumor necrosis factor gene DOID:13241 Behcet's disease ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Uveitis;protein:increased expression:aqueous humor: PMID:21334264|REF_RGD_ID:8142356 12373160 TNF tumor necrosis factor gene DOID:13241 Behcet's disease ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14600787|REF_RGD_ID:7401213 12373160 TNF tumor necrosis factor gene DOID:13241 Behcet's disease no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (human) PMID:12770792|REF_RGD_ID:12904048 12373160 TNF tumor necrosis factor gene DOID:13241 Behcet's disease no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human) PMID:15875188|REF_RGD_ID:12904040 12373160 TNF tumor necrosis factor gene DOID:13258 typhoid fever susceptibility ISO RGD:1344192 D RGD:9068941 20200716 RGD DNA:SNP:promoter:-308G>A (rs1800629) (human) PMID:11120931|REF_RGD_ID:36049756 12373160 TNF tumor necrosis factor gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20416219|REF_RGD_ID:4145765 12373160 TNF tumor necrosis factor gene DOID:13378 Kawasaki disease ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:14703611|PMID:8777922|REF_RGD_ID:1580318|REF_RGD_ID:7401221 12373160 TNF tumor necrosis factor gene DOID:13378 Kawasaki disease susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP: :-308G>A (human) PMID:18710885|REF_RGD_ID:9495921 12373160 TNF tumor necrosis factor gene DOID:13378 Kawasaki disease treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:14744383|REF_RGD_ID:7401183 12373160 TNF tumor necrosis factor gene DOID:13406 pulmonary sarcoidosis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:15653992|REF_RGD_ID:4143466 12373160 TNF tumor necrosis factor gene DOID:13406 pulmonary sarcoidosis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:20070603|REF_RGD_ID:4143236 12373160 TNF tumor necrosis factor gene DOID:13413 hepatic encephalopathy ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16338762|PMID:9696492 12373160 TNF tumor necrosis factor gene DOID:13452 scleritis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:23177360|REF_RGD_ID:7394776 12373160 TNF tumor necrosis factor gene DOID:13544 low tension glaucoma ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype:promoter: -863C>A (human) PMID:15557444|REF_RGD_ID:7775041 12373160 TNF tumor necrosis factor gene DOID:13580 cholestasis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20626112 12373160 TNF tumor necrosis factor gene DOID:13619 extrahepatic cholestasis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 12373160 TNF tumor necrosis factor gene DOID:13636 Fanconi anemia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22628295 12373160 TNF tumor necrosis factor gene DOID:13636 Fanconi anemia ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:24021704|PMID:8438880|REF_RGD_ID:10450524|REF_RGD_ID:11049161 12373160 TNF tumor necrosis factor gene DOID:13677 SAPHO syndrome ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27108452 12373160 TNF tumor necrosis factor gene DOID:13949 interstitial cystitis treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:16622179|REF_RGD_ID:7245525 12373160 TNF tumor necrosis factor gene DOID:13976 peptic esophagitis ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:15942680|REF_RGD_ID:1580209 12373160 TNF tumor necrosis factor gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 12373160 TNF tumor necrosis factor gene DOID:14067 Plasmodium falciparum malaria severity ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:1984482|REF_RGD_ID:10450571 12373160 TNF tumor necrosis factor gene DOID:1407 anterior uveitis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:promoter:-857 C>T (human) PMID:15851552|REF_RGD_ID:8548818 12373160 TNF tumor necrosis factor gene DOID:14115 toxic shock syndrome ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20054000 12373160 TNF tumor necrosis factor gene DOID:14115 toxic shock syndrome ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:peritoneal macrophage, cell surface (rat) PMID:12622907|REF_RGD_ID:1598936 12373160 TNF tumor necrosis factor gene DOID:14115 toxic shock syndrome treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:2213560|REF_RGD_ID:10449465 12373160 TNF tumor necrosis factor gene DOID:14330 Parkinson's disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21318773 12373160 TNF tumor necrosis factor gene DOID:14453 farmer's lung ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased activity:serum PMID:11179110|REF_RGD_ID:4143374 12373160 TNF tumor necrosis factor gene DOID:14453 farmer's lung ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased secretion:macrophage PMID:8466130|REF_RGD_ID:4143375 12373160 TNF tumor necrosis factor gene DOID:14550 root resorption ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:22372265|REF_RGD_ID:13825431 12373160 TNF tumor necrosis factor gene DOID:1468 labyrinthitis ISO RGD:11429 D RGD:9068941 20200609 RGD protein:increased expression: cochleas, endolymphatic sac: PMID:12943369|REF_RGD_ID:7394706 12373160 TNF tumor necrosis factor gene DOID:1485 cystic fibrosis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:7537567|REF_RGD_ID:4142846 12373160 TNF tumor necrosis factor gene DOID:1485 cystic fibrosis severity ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype:promoter:−308G>A (rs1800629) (human) PMID:21993476|REF_RGD_ID:6767553 12373160 TNF tumor necrosis factor gene DOID:1555 urticaria ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12121561|PMID:19250144|PMID:20485159 12373160 TNF tumor necrosis factor gene DOID:1579 respiratory system disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22414385 12373160 TNF tumor necrosis factor gene DOID:1588 thrombocytopenia ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Hemorrhagic Fever with Renal Syndrome;DNA:SNP:promoter:-238G>A (human) PMID:16987073|REF_RGD_ID:10449459 12373160 TNF tumor necrosis factor gene DOID:1588 thrombocytopenia severity ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Malaria, Vivax PMID:25128199|REF_RGD_ID:11041893 12373160 TNF tumor necrosis factor gene DOID:1612 breast cancer ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19967414|REF_RGD_ID:2315111 12373160 TNF tumor necrosis factor gene DOID:1612 breast cancer no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:17216494|REF_RGD_ID:8548779 12373160 TNF tumor necrosis factor gene DOID:1612 breast cancer no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:multiple PMID:11841482|REF_RGD_ID:8548791 12373160 TNF tumor necrosis factor gene DOID:1612 breast cancer susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP: :rs361525 (human) PMID:17216494|REF_RGD_ID:8548779 12373160 TNF tumor necrosis factor gene DOID:1612 breast cancer susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype:promoter:-308G>A (human) PMID:18409070|REF_RGD_ID:8548786 12373160 TNF tumor necrosis factor gene DOID:1679 cystitis ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:11948286|REF_RGD_ID:6907118 12373160 TNF tumor necrosis factor gene DOID:1686 glaucoma ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:17151265|REF_RGD_ID:7394785 12373160 TNF tumor necrosis factor gene DOID:1686 glaucoma ISO RGD:11429 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:20574020|REF_RGD_ID:7394760 12373160 TNF tumor necrosis factor gene DOID:1686 glaucoma ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:22802951|REF_RGD_ID:7394770 12373160 TNF tumor necrosis factor gene DOID:1686 glaucoma ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:20574020|REF_RGD_ID:7394760 12373160 TNF tumor necrosis factor gene DOID:1712 aortic valve stenosis ISO RGD:11429 D RGD:9068941 20220825 MouseDO OMIM:109730 | OMIM:614823 12373160 TNF tumor necrosis factor gene DOID:178 vascular disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14965870 12373160 TNF tumor necrosis factor gene DOID:1793 pancreatic cancer ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16211219 12373160 TNF tumor necrosis factor gene DOID:182 calcinosis ISO RGD:1344192 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:30963258 12373160 TNF tumor necrosis factor gene DOID:1824 status epilepticus ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18455351 12373160 TNF tumor necrosis factor gene DOID:1824 status epilepticus ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:20649973|REF_RGD_ID:4143383 12373160 TNF tumor necrosis factor gene DOID:1826 epilepsy ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:brain,plasma PMID:28303499|REF_RGD_ID:13524859 12373160 TNF tumor necrosis factor gene DOID:1875 impotence treatment ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:24467772|REF_RGD_ID:9495931 12373160 TNF tumor necrosis factor gene DOID:1909 melanoma ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10379864|PMID:18388930|PMID:9794839|PMID:9843018 12373160 TNF tumor necrosis factor gene DOID:1926 Gaucher's disease severity ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (human) PMID:15919211|REF_RGD_ID:12904037 12373160 TNF tumor necrosis factor gene DOID:1936 atherosclerosis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:15823270|REF_RGD_ID:7401235 12373160 TNF tumor necrosis factor gene DOID:1936 atherosclerosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20720404 12373160 TNF tumor necrosis factor gene DOID:1936 atherosclerosis ameliorates ISO RGD:11429 D RGD:9068941 20230330 RGD PMID:35854140|REF_RGD_ID:242905195 12373160 TNF tumor necrosis factor gene DOID:2018 hyperinsulinism ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 12373160 TNF tumor necrosis factor gene DOID:2030 anxiety disorder ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20194079 12373160 TNF tumor necrosis factor gene DOID:2043 hepatitis B no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (rs1800629) (human) PMID:27644568|REF_RGD_ID:14975150 12373160 TNF tumor necrosis factor gene DOID:2043 hepatitis B severity ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-863C>A, -308A>G (human) PMID:12915457|REF_RGD_ID:14995438 12373160 TNF tumor necrosis factor gene DOID:2043 hepatitis B treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-857C>T (rs1799724) (human) PMID:27644568|REF_RGD_ID:14975150 12373160 TNF tumor necrosis factor gene DOID:2048 autoimmune hepatitis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9047083|REF_RGD_ID:14995307 12373160 TNF tumor necrosis factor gene DOID:224 transient cerebral ischemia ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum,hippocampus: PMID:11412877|REF_RGD_ID:13825263 12373160 TNF tumor necrosis factor gene DOID:224 transient cerebral ischemia treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24053818|REF_RGD_ID:7364868 12373160 TNF tumor necrosis factor gene DOID:2280 hidradenitis suppurativa ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype:promoter:-238G>A(human) PMID:23106544|REF_RGD_ID:7777155 12373160 TNF tumor necrosis factor gene DOID:2316 brain ischemia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15756928 12373160 TNF tumor necrosis factor gene DOID:2352 hemochromatosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16793930 12373160 TNF tumor necrosis factor gene DOID:2352 hemochromatosis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-238G>A (rs361525) (human) PMID:11389006|REF_RGD_ID:12904656 12373160 TNF tumor necrosis factor gene DOID:2352 hemochromatosis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (human) PMID:16793930|REF_RGD_ID:12904050 12373160 TNF tumor necrosis factor gene DOID:2355 anemia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16566752 12373160 TNF tumor necrosis factor gene DOID:2355 anemia ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid PMID:14613268|REF_RGD_ID:10450570 12373160 TNF tumor necrosis factor gene DOID:2355 anemia ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with HIV Infections;protein:increased expression:serum PMID:2324681|REF_RGD_ID:10450888 12373160 TNF tumor necrosis factor gene DOID:2377 multiple sclerosis ISO RGD:11429 D RGD:9068941 20220825 MouseDO OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810 12373160 TNF tumor necrosis factor gene DOID:2377 multiple sclerosis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (human) PMID:8887999|REF_RGD_ID:12904068 12373160 TNF tumor necrosis factor gene DOID:2377 multiple sclerosis disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:8964914|REF_RGD_ID:7401237 12373160 TNF tumor necrosis factor gene DOID:2377 multiple sclerosis no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (human) PMID:9270614|REF_RGD_ID:12904657 12373160 TNF tumor necrosis factor gene DOID:2394 ovarian cancer disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19825522|REF_RGD_ID:2315115 12373160 TNF tumor necrosis factor gene DOID:2556 relapsing polychondritis ISO RGD:11429 D RGD:9068941 20200609 RGD protein:increased expression:ear PMID:17606507|REF_RGD_ID:6483833 12373160 TNF tumor necrosis factor gene DOID:2671 transitional cell carcinoma ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3361654 12373160 TNF tumor necrosis factor gene DOID:2723 dermatitis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:3171214|REF_RGD_ID:7394823 12373160 TNF tumor necrosis factor gene DOID:2741 bilirubin metabolic disorder ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10379864 12373160 TNF tumor necrosis factor gene DOID:2755 Mycobacterium avium complex disease ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with HIV Infections PMID:7640175|REF_RGD_ID:10450731 12373160 TNF tumor necrosis factor gene DOID:2841 asthma ISO RGD:1344192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, susceptibility to PMID:10450718|PMID:11261930|PMID:11506397|PMID:11826025|PMID:11896460|PMID:12485196|PMID:12746914|PMID:12759288|PMID:14681301|PMID:14718719|PMID:16418737|PMID:16720636|PMID:16865291|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668|PMID:8056188|PMID:9818939 12373160 TNF tumor necrosis factor gene DOID:2841 asthma no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: PMID:12530118|REF_RGD_ID:4143254 12373160 TNF tumor necrosis factor gene DOID:2841 asthma susceptibility ISO RGD:1344192 D RGD:7240710 20190502 OMIM 12373160 TNF tumor necrosis factor gene DOID:289 endometriosis ISO RGD:1344192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometriosis PMID:10450718|PMID:11261930|PMID:11506397|PMID:11826025|PMID:11896460|PMID:12485196|PMID:12746914|PMID:12759288|PMID:14681301|PMID:14718719|PMID:16418737|PMID:16720636|PMID:16865291|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668|PMID:8056188|PMID:9818939 12373160 TNF tumor necrosis factor gene DOID:289 endometriosis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:21741153|REF_RGD_ID:7247423 12373160 TNF tumor necrosis factor gene DOID:2917 cryoglobulinemia ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19860001|REF_RGD_ID:10450529 12373160 TNF tumor necrosis factor gene DOID:2921 glomerulonephritis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10910440|PMID:9403216 12373160 TNF tumor necrosis factor gene DOID:2945 severe acute respiratory syndrome ISO RGD:1344192 D RGD:9068941 20200625 RGD protein:increased expression:plasma (human) PMID:14514395|REF_RGD_ID:30309961 12373160 TNF tumor necrosis factor gene DOID:2945 severe acute respiratory syndrome ISO RGD:1344192 D RGD:9068941 20200702 RGD protein:increased expression:bronchoalveolar lavage (human) PMID:15888207|REF_RGD_ID:34201108 12373160 TNF tumor necrosis factor gene DOID:2957 pulmonary tuberculosis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:9176116|REF_RGD_ID:4142835 12373160 TNF tumor necrosis factor gene DOID:2957 pulmonary tuberculosis disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:18212516|REF_RGD_ID:4143395 12373160 TNF tumor necrosis factor gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphisms::c.-857 C>T, c. -863 A>C (human) PMID:20650298|REF_RGD_ID:4143388 12373160 TNF tumor necrosis factor gene DOID:2986 IgA glomerulonephritis treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:9844059|REF_RGD_ID:6909132 12373160 TNF tumor necrosis factor gene DOID:299 adenocarcinoma ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1733439|PMID:19028472 12373160 TNF tumor necrosis factor gene DOID:3021 acute kidney failure ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16595132|PMID:18460982|PMID:20623750 12373160 TNF tumor necrosis factor gene DOID:3021 acute kidney failure susceptibility ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:21150875|REF_RGD_ID:7245548 12373160 TNF tumor necrosis factor gene DOID:3042 allergic contact dermatitis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15849067 12373160 TNF tumor necrosis factor gene DOID:3070 high grade glioma ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22199285 12373160 TNF tumor necrosis factor gene DOID:3070 high grade glioma treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:11810046|REF_RGD_ID:10450725 12373160 TNF tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs:promoter PMID:20352242|REF_RGD_ID:4143273 12373160 TNF tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism: :c. 489G>A (human) PMID:12537602|REF_RGD_ID:4143421 12373160 TNF tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:11179116|REF_RGD_ID:4143424 12373160 TNF tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20500811|REF_RGD_ID:4143272 12373160 TNF tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:8564092|REF_RGD_ID:4143270 12373160 TNF tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1344192 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:15337792|PMID:29497291|PMID:34652871 12373160 TNF tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA;polymorphism: :rs361525 (human) PMID:20299531|REF_RGD_ID:4143391 12373160 TNF tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:c.-308 G>A (human) PMID:15820084|REF_RGD_ID:4145714 12373160 TNF tumor necrosis factor gene DOID:3213 demyelinating disease treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:7479982|REF_RGD_ID:12904647 12373160 TNF tumor necrosis factor gene DOID:3310 atopic dermatitis susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:haplotype:promoter:−308G>A,-238G>A(human) PMID:22533231|REF_RGD_ID:7401246 12373160 TNF tumor necrosis factor gene DOID:332 amyotrophic lateral sclerosis ISO RGD:11429 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:13678668|REF_RGD_ID:12904653 12373160 TNF tumor necrosis factor gene DOID:3393 coronary artery disease ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-863C>A, in men without Diabetes Mellitus, Type 2 (MeSH:D003924) PMID:15059615|REF_RGD_ID:1626412 12373160 TNF tumor necrosis factor gene DOID:3454 brain infarction ISO RGD:3876 D RGD:9068941 20230216 RGD protein:increased expression:brain (rat) PMID:19895873|REF_RGD_ID:2325193 12373160 TNF tumor necrosis factor gene DOID:3458 breast adenocarcinoma ISO RGD:1344192 D RGD:9068941 20200609 RGD human protein in a rat model PMID:12536235|REF_RGD_ID:14995452 12373160 TNF tumor necrosis factor gene DOID:3492 mixed connective tissue disease ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19684145|REF_RGD_ID:8142347 12373160 TNF tumor necrosis factor gene DOID:3525 middle cerebral artery infarction ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:15647744|REF_RGD_ID:13825261 12373160 TNF tumor necrosis factor gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:11429 D RGD:9068941 20230330 RGD PMID:28630232|REF_RGD_ID:242905192 12373160 TNF tumor necrosis factor gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:3876 D RGD:9068941 20230330 RGD PMID:35322553|REF_RGD_ID:242905190 12373160 TNF tumor necrosis factor gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24916922|PMID:29498696|REF_RGD_ID:10450594|REF_RGD_ID:13792833 12373160 TNF tumor necrosis factor gene DOID:3526 cerebral infarction ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:16173529|REF_RGD_ID:1580315 12373160 TNF tumor necrosis factor gene DOID:3526 cerebral infarction treatment ISO RGD:11429 D RGD:9068941 20220930 RGD PMID:29111308|REF_RGD_ID:155260331 12373160 TNF tumor necrosis factor gene DOID:37 skin disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12373160 TNF tumor necrosis factor gene DOID:37 skin disease severity ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Arsenic Poisoning PMID:21357384|REF_RGD_ID:7364846 12373160 TNF tumor necrosis factor gene DOID:37 skin disease susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Arsenic Poisoning;DNA:SNP:promoter:-308G>A (human) PMID:21357384|REF_RGD_ID:7364846 12373160 TNF tumor necrosis factor gene DOID:3721 plasmacytoma treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:2022919|REF_RGD_ID:10449448 12373160 TNF tumor necrosis factor gene DOID:3770 pulmonary fibrosis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:2156165|PMID:7542280|REF_RGD_ID:4142851|REF_RGD_ID:4143417 12373160 TNF tumor necrosis factor gene DOID:3770 pulmonary fibrosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11394717|PMID:16324872|PMID:17266442|PMID:25216247|PMID:26368622 12373160 TNF tumor necrosis factor gene DOID:3770 pulmonary fibrosis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:12030733|REF_RGD_ID:4143258 12373160 TNF tumor necrosis factor gene DOID:3770 pulmonary fibrosis treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:19154443|REF_RGD_ID:2314537 12373160 TNF tumor necrosis factor gene DOID:3827 congenital diaphragmatic hernia ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:10541330|REF_RGD_ID:12904053 12373160 TNF tumor necrosis factor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:19505916|REF_RGD_ID:4142793 12373160 TNF tumor necrosis factor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:9669810|REF_RGD_ID:4143264 12373160 TNF tumor necrosis factor gene DOID:399 tuberculosis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20537163|REF_RGD_ID:4143229 12373160 TNF tumor necrosis factor gene DOID:4029 gastritis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:25335260|REF_RGD_ID:10413874 12373160 TNF tumor necrosis factor gene DOID:4079 heart valve disease ISO RGD:11429 D RGD:9068941 20220825 MouseDO 12373160 TNF tumor necrosis factor gene DOID:409 liver disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15946935 12373160 TNF tumor necrosis factor gene DOID:409 liver disease ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Hemochromatosis;DNA:SNP:promoter:-308G>A (human) PMID:11389006|REF_RGD_ID:12904656 12373160 TNF tumor necrosis factor gene DOID:4247 coronary restenosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16319143 12373160 TNF tumor necrosis factor gene DOID:4247 coronary restenosis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:16319143|REF_RGD_ID:1580322 12373160 TNF tumor necrosis factor gene DOID:4306 radiculopathy ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord, dorsal root ganglion PMID:18848809|REF_RGD_ID:7394750 12373160 TNF tumor necrosis factor gene DOID:4362 cervical cancer susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-308G>A (human) PMID:19823053|REF_RGD_ID:2315116 12373160 TNF tumor necrosis factor gene DOID:4398 pustulosis of palm and sole ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:5' utr:multiple PMID:12691703|REF_RGD_ID:8548804 12373160 TNF tumor necrosis factor gene DOID:4398 pustulosis of palm and sole no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:multiple PMID:11019918|REF_RGD_ID:8548803 12373160 TNF tumor necrosis factor gene DOID:4450 renal cell carcinoma ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:19384924|PMID:19904265|REF_RGD_ID:2315113|REF_RGD_ID:2315119 12373160 TNF tumor necrosis factor gene DOID:4483 rhinitis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:15120189|REF_RGD_ID:4143470 12373160 TNF tumor necrosis factor gene DOID:4483 rhinitis ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:nose PMID:20696593|REF_RGD_ID:4145454 12373160 TNF tumor necrosis factor gene DOID:4692 endophthalmitis ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:vitreous: PMID:16544114|REF_RGD_ID:7829753 12373160 TNF tumor necrosis factor gene DOID:4724 brain edema ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21276434 12373160 TNF tumor necrosis factor gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:21894146|REF_RGD_ID:6218988 12373160 TNF tumor necrosis factor gene DOID:5082 liver cirrhosis severity ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19695831|REF_RGD_ID:14995448 12373160 TNF tumor necrosis factor gene DOID:5199 ureteral obstruction ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:19541932|REF_RGD_ID:7245519 12373160 TNF tumor necrosis factor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:1768380|REF_RGD_ID:10449449 12373160 TNF tumor necrosis factor gene DOID:5327 retinal detachment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:21402953|REF_RGD_ID:5131257 12373160 TNF tumor necrosis factor gene DOID:5327 retinal detachment treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:21402953|REF_RGD_ID:5131257 12373160 TNF tumor necrosis factor gene DOID:5419 schizophrenia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16478754 12373160 TNF tumor necrosis factor gene DOID:5419 schizophrenia ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:15927374|REF_RGD_ID:1580313 12373160 TNF tumor necrosis factor gene DOID:5463 cochlear disease ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:29304389|REF_RGD_ID:13792837 12373160 TNF tumor necrosis factor gene DOID:552 pneumonia ISO RGD:1344192 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21625544|PMID:28917655|PMID:34390737 12373160 TNF tumor necrosis factor gene DOID:557 kidney disease ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid PMID:14613268|REF_RGD_ID:10450570 12373160 TNF tumor necrosis factor gene DOID:5614 eye disease disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Thyroid Diseases;protein:increased expression:serum: PMID:12186498|REF_RGD_ID:7387296 12373160 TNF tumor necrosis factor gene DOID:5679 retinal disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19324842 12373160 TNF tumor necrosis factor gene DOID:5773 oral submucous fibrosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 12373160 TNF tumor necrosis factor gene DOID:5844 myocardial infarction ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15883752|PMID:16310260 12373160 TNF tumor necrosis factor gene DOID:5844 myocardial infarction ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:left ventricle myocardium, plasma PMID:21362018|REF_RGD_ID:5130892 12373160 TNF tumor necrosis factor gene DOID:6000 congestive heart failure ISO RGD:11429 D RGD:9068941 20220825 MouseDO 12373160 TNF tumor necrosis factor gene DOID:6000 congestive heart failure ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15135663|PMID:15231041|PMID:17337591|PMID:18034274|PMID:29959987 12373160 TNF tumor necrosis factor gene DOID:6000 congestive heart failure ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:28939262|REF_RGD_ID:14975271 12373160 TNF tumor necrosis factor gene DOID:6000 congestive heart failure severity ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:11100001|REF_RGD_ID:7401241 12373160 TNF tumor necrosis factor gene DOID:6000 congestive heart failure treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:15210453|REF_RGD_ID:1580213 12373160 TNF tumor necrosis factor gene DOID:6000 congestive heart failure treatment ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Myocardial Infarction; PMID:11668085|REF_RGD_ID:7401242 12373160 TNF tumor necrosis factor gene DOID:614 lymphopenia ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with HIV Infections;protein:increased expression:serum PMID:2324681|REF_RGD_ID:10450888 12373160 TNF tumor necrosis factor gene DOID:630 genetic disease ISO RGD:1344192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373160 TNF tumor necrosis factor gene DOID:633 myositis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:muscle: PMID:10399751|REF_RGD_ID:7401187 12373160 TNF tumor necrosis factor gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:8548330|REF_RGD_ID:12904035 12373160 TNF tumor necrosis factor gene DOID:6364 migraine ISO RGD:1344192 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Migraine with or without aura, susceptibility to, 1 PMID:25741868 12373160 TNF tumor necrosis factor gene DOID:6364 migraine susceptibility ISO RGD:1344192 D RGD:7240710 20190410 OMIM 12373160 TNF tumor necrosis factor gene DOID:640 encephalomyelitis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:9736027|REF_RGD_ID:12904033 12373160 TNF tumor necrosis factor gene DOID:6432 pulmonary hypertension ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:12391106|REF_RGD_ID:4143422 12373160 TNF tumor necrosis factor gene DOID:6432 pulmonary hypertension ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2518282 12373160 TNF tumor necrosis factor gene DOID:6432 pulmonary hypertension ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Pulmonary Edema; protein:increased expression:Bronchoalveolar Lavage Fluid PMID:9628235|REF_RGD_ID:4142833 12373160 TNF tumor necrosis factor gene DOID:6432 pulmonary hypertension ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with pulmonary disease, chronic obstructive; protein:increased expression:serum PMID:16899829|REF_RGD_ID:4143280 12373160 TNF tumor necrosis factor gene DOID:6543 acne susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:c.-308 G>A (human) PMID:18615253|REF_RGD_ID:7394817 12373160 TNF tumor necrosis factor gene DOID:684 hepatocellular carcinoma ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27022031 12373160 TNF tumor necrosis factor gene DOID:684 hepatocellular carcinoma ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:26890368|REF_RGD_ID:14975171 12373160 TNF tumor necrosis factor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:11429 D RGD:9068941 20210423 RGD mRNA, protein:increased expression:liver, blood serum (mouse) PMID:26569409|REF_RGD_ID:11344640 12373160 TNF tumor necrosis factor gene DOID:699 mitochondrial myopathy ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12373160 TNF tumor necrosis factor gene DOID:7148 rheumatoid arthritis ISO RGD:11429 D RGD:9068941 20220825 MouseDO OMIM:180300 12373160 TNF tumor necrosis factor gene DOID:7148 rheumatoid arthritis ISO RGD:1344192 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12566094|PMID:2001072|PMID:22450443|PMID:34459104|PMID:8391952 12373160 TNF tumor necrosis factor gene DOID:7148 rheumatoid arthritis ISO RGD:1344192 D RGD:9068941 20221117 RGD mRNA:increased expression:synovial (human) PMID:22660635|REF_RGD_ID:155663483 12373160 TNF tumor necrosis factor gene DOID:7148 rheumatoid arthritis no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-238G>A, -308G>A (human) PMID:25311255|REF_RGD_ID:12904065 12373160 TNF tumor necrosis factor gene DOID:7148 rheumatoid arthritis treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:12563673|REF_RGD_ID:10450537 12373160 TNF tumor necrosis factor gene DOID:7148 rheumatoid arthritis treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-857C>T (human) PMID:25311255|REF_RGD_ID:12904065 12373160 TNF tumor necrosis factor gene DOID:7188 autoimmune thyroiditis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:17046971|REF_RGD_ID:4841878 12373160 TNF tumor necrosis factor gene DOID:7427 anthrax disease disease_progression ISO RGD:11429 D RGD:9068941 20201211 RGD protein:decreased expression:multiple (mouse) PMID:19075243|REF_RGD_ID:40902812 12373160 TNF tumor necrosis factor gene DOID:767 muscular atrophy ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24534773 12373160 TNF tumor necrosis factor gene DOID:769 neuroblastoma ISO RGD:1344192 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 12373160 TNF tumor necrosis factor gene DOID:780 placenta disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16007645 12373160 TNF tumor necrosis factor gene DOID:783 end stage renal disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19539174 12373160 TNF tumor necrosis factor gene DOID:783 end stage renal disease ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma PMID:22266663|REF_RGD_ID:7245510 12373160 TNF tumor necrosis factor gene DOID:813 septic arthritis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19203382 12373160 TNF tumor necrosis factor gene DOID:820 myocarditis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18627770|PMID:25396421 12373160 TNF tumor necrosis factor gene DOID:824 periodontitis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24586097|REF_RGD_ID:10450598 12373160 TNF tumor necrosis factor gene DOID:8283 peritonitis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:26601826|REF_RGD_ID:14975296 12373160 TNF tumor necrosis factor gene DOID:8283 peritonitis ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20819637|REF_RGD_ID:4143378 12373160 TNF tumor necrosis factor gene DOID:841 extrinsic allergic alveolitis ISO RGD:11429 D RGD:9068941 20200609 RGD protein:increased expression:Bronchoalveolar Lavage Fluid PMID:10882225|REF_RGD_ID:4142832 12373160 TNF tumor necrosis factor gene DOID:841 extrinsic allergic alveolitis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:15653992|REF_RGD_ID:4143466 12373160 TNF tumor necrosis factor gene DOID:8463 corneal ulcer ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Arthritis,Rheumatoid;mRNA:increased expression:keratocyte: PMID:12714388|REF_RGD_ID:7829721 12373160 TNF tumor necrosis factor gene DOID:8472 localized scleroderma ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9843018 12373160 TNF tumor necrosis factor gene DOID:8483 retinal artery occlusion ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:19421412|REF_RGD_ID:7829809 12373160 TNF tumor necrosis factor gene DOID:850 lung disease ISO RGD:11429 D RGD:9068941 20200609 RGD lung injury PMID:12377989|REF_RGD_ID:4142809 12373160 TNF tumor necrosis factor gene DOID:850 lung disease ISO RGD:11429 D RGD:9068941 20200609 RGD lung injury; mRNA:increased expression:lung PMID:12745880|REF_RGD_ID:4142805 12373160 TNF tumor necrosis factor gene DOID:850 lung disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11472967 12373160 TNF tumor necrosis factor gene DOID:850 lung disease ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with premature birth; protein:increased expression:lung PMID:9462189|REF_RGD_ID:4143432 12373160 TNF tumor necrosis factor gene DOID:850 lung disease ISO RGD:3876 D RGD:9068941 20200609 RGD acute lung injury; mRNA:increased expression:lung PMID:15461830|REF_RGD_ID:4145512 12373160 TNF tumor necrosis factor gene DOID:850 lung disease ISO RGD:3876 D RGD:9068941 20200609 RGD lung injury associated with pancreatitis; protein:increased expression:Bronchoalveolar Lavage Fluid PMID:10455887|REF_RGD_ID:4143427 12373160 TNF tumor necrosis factor gene DOID:850 lung disease ISO RGD:3876 D RGD:9068941 20200609 RGD ventilator-induced lung injury; protein:altered expression:lung: PMID:11126266|REF_RGD_ID:4143425 12373160 TNF tumor necrosis factor gene DOID:8505 dermatitis herpetiformis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:7914110|REF_RGD_ID:8548777 12373160 TNF tumor necrosis factor gene DOID:8515 Cor pulmonale ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20669672|REF_RGD_ID:4143386 12373160 TNF tumor necrosis factor gene DOID:8536 herpes zoster ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:: PMID:21954956|REF_RGD_ID:8663478 12373160 TNF tumor necrosis factor gene DOID:8577 ulcerative colitis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19617644|PMID:20452301|PMID:22119283 12373160 TNF tumor necrosis factor gene DOID:8577 ulcerative colitis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:28120341|REF_RGD_ID:14975153 12373160 TNF tumor necrosis factor gene DOID:8577 ulcerative colitis ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:24812904|REF_RGD_ID:10450593 12373160 TNF tumor necrosis factor gene DOID:8577 ulcerative colitis treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:25204186|REF_RGD_ID:10450577 12373160 TNF tumor necrosis factor gene DOID:863 nervous system disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14999072 12373160 TNF tumor necrosis factor gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:intestine PMID:19824106|REF_RGD_ID:4144091 12373160 TNF tumor necrosis factor gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:16269520|REF_RGD_ID:1580205 12373160 TNF tumor necrosis factor gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19824106|REF_RGD_ID:4144091 12373160 TNF tumor necrosis factor gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:3876 D RGD:9068941 20211126 RGD mRNA:increased expression:ileum (rat) PMID:20501441|REF_RGD_ID:2324672 12373160 TNF tumor necrosis factor gene DOID:8725 vascular dementia susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-850C>T(human) PMID:11273064|REF_RGD_ID:13825254 12373160 TNF tumor necrosis factor gene DOID:874 bacterial pneumonia disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:10650487|REF_RGD_ID:4143476 12373160 TNF tumor necrosis factor gene DOID:874 bacterial pneumonia severity ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:12958055|REF_RGD_ID:10449451 12373160 TNF tumor necrosis factor gene DOID:874 bacterial pneumonia treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:9310939|REF_RGD_ID:10450564 12373160 TNF tumor necrosis factor gene DOID:874 bacterial pneumonia treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Agranulocytosis PMID:7546648|REF_RGD_ID:10755357 12373160 TNF tumor necrosis factor gene DOID:8778 Crohn's disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10700533|PMID:21829567 12373160 TNF tumor necrosis factor gene DOID:8778 Crohn's disease ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:intestine mucosa PMID:21359923|REF_RGD_ID:5130893 12373160 TNF tumor necrosis factor gene DOID:8778 Crohn's disease treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:22531889|REF_RGD_ID:8661753 12373160 TNF tumor necrosis factor gene DOID:8893 psoriasis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844318|PMID:7744320 12373160 TNF tumor necrosis factor gene DOID:8893 psoriasis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:16821276|REF_RGD_ID:7401180 12373160 TNF tumor necrosis factor gene DOID:8893 psoriasis susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP: :-238G>A(rs361525)(human) PMID:9326391|REF_RGD_ID:7394813 12373160 TNF tumor necrosis factor gene DOID:893 Wilson disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25002079 12373160 TNF tumor necrosis factor gene DOID:8947 diabetic retinopathy ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:22105495|REF_RGD_ID:7364856 12373160 TNF tumor necrosis factor gene DOID:8947 diabetic retinopathy ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum, vitreous humour PMID:16284605|REF_RGD_ID:7401212 12373160 TNF tumor necrosis factor gene DOID:8947 diabetic retinopathy disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:platelet: PMID:10540181|REF_RGD_ID:7394805 12373160 TNF tumor necrosis factor gene DOID:8947 diabetic retinopathy no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism:promoter:-302A>G (human) PMID:16979413|REF_RGD_ID:8548772 12373160 TNF tumor necrosis factor gene DOID:90 degenerative disc disease ISO RGD:1344192 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:34600870 12373160 TNF tumor necrosis factor gene DOID:900 hepatopulmonary syndrome treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:26236934|REF_RGD_ID:14696802 12373160 TNF tumor necrosis factor gene DOID:9000039 Spinal Cord Injuries ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:20633123|REF_RGD_ID:5131936 12373160 TNF tumor necrosis factor gene DOID:9000099 Experimental Colitis treatment ISO RGD:3876 D RGD:9068941 20220623 RGD PMID:21296062|PMID:29572553|REF_RGD_ID:152995414|REF_RGD_ID:8661763 12373160 TNF tumor necrosis factor gene DOID:9000113 Pneumococcal Meningitis ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:25443778|REF_RGD_ID:9831197 12373160 TNF tumor necrosis factor gene DOID:9000113 Pneumococcal Meningitis disease_progression ISO RGD:3876 D RGD:9068941 20210219 RGD mRNA:increased expression:brain (rat) PMID:31933824|REF_RGD_ID:40903068 12373160 TNF tumor necrosis factor gene DOID:9000197 Edema ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 12373160 TNF tumor necrosis factor gene DOID:9000217 Stomach Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15201584|PMID:1733439 12373160 TNF tumor necrosis factor gene DOID:9000220 Coxsackievirus Infections ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25396421 12373160 TNF tumor necrosis factor gene DOID:9000300 Refractory Anemia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10870480 12373160 TNF tumor necrosis factor gene DOID:9000304 Manganese Poisoning ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18041089 12373160 TNF tumor necrosis factor gene DOID:9000310 Lung Injury ISO RGD:1344192 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:2518282|PMID:26243812|PMID:34255241 12373160 TNF tumor necrosis factor gene DOID:9000352 Vascular System Injuries ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19234301 12373160 TNF tumor necrosis factor gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27157545 12373160 TNF tumor necrosis factor gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19719951|REF_RGD_ID:4144093 12373160 TNF tumor necrosis factor gene DOID:9000540 HIV Wasting Syndrome ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 12373160 TNF tumor necrosis factor gene DOID:9000641 Pain ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18582539|PMID:20383154 12373160 TNF tumor necrosis factor gene DOID:9000656 Penetrating Wounds ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:26101070|REF_RGD_ID:11049529 12373160 TNF tumor necrosis factor gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with asthma; DNA:polymorphism:promoter: c. -308A>G (human) PMID:17196641|REF_RGD_ID:4144784 12373160 TNF tumor necrosis factor gene DOID:9000784 Fibrosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18034274 12373160 TNF tumor necrosis factor gene DOID:9000855 Experimental Radiation Injuries ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11121210 12373160 TNF tumor necrosis factor gene DOID:9000918 Disease Progression ISO RGD:1344192 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 12373160 TNF tumor necrosis factor gene DOID:9000927 Alveolar Bone Loss treatment ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:26270535|REF_RGD_ID:11049527 12373160 TNF tumor necrosis factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23431386|PMID:8032535 12373160 TNF tumor necrosis factor gene DOID:9000972 Fever ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10379864|PMID:11852909|PMID:15384034 12373160 TNF tumor necrosis factor gene DOID:9000998 Brain Injuries ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19800810|PMID:21549006 12373160 TNF tumor necrosis factor gene DOID:9000998 Brain Injuries ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:10674461|REF_RGD_ID:13825262 12373160 TNF tumor necrosis factor gene DOID:9001109 Anorexia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25392278 12373160 TNF tumor necrosis factor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion: PMID:19543754|REF_RGD_ID:7394752 12373160 TNF tumor necrosis factor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:nucleus accumbens PMID:24845379|REF_RGD_ID:10450588 12373160 TNF tumor necrosis factor gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:7556590|REF_RGD_ID:14995472 12373160 TNF tumor necrosis factor gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:15670576|PMID:9397994|REF_RGD_ID:14398736|REF_RGD_ID:14995456 12373160 TNF tumor necrosis factor gene DOID:9001365 Amebic Liver Abscess treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:10862314|REF_RGD_ID:14928216 12373160 TNF tumor necrosis factor gene DOID:9001472 Nasal Polyps ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs:promoter: PMID:17638785|REF_RGD_ID:4142855 12373160 TNF tumor necrosis factor gene DOID:9001488 Human Influenza ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21062445|REF_RGD_ID:5128683 12373160 TNF tumor necrosis factor gene DOID:9001542 Albuminuria ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17167242 12373160 TNF tumor necrosis factor gene DOID:9001553 Spinal Cord Compression ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15135227 12373160 TNF tumor necrosis factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:11429 D RGD:9068941 20201023 RGD mRNA:increased expression:liver (mouse) PMID:28465467|REF_RGD_ID:39939037 12373160 TNF tumor necrosis factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16085334 12373160 TNF tumor necrosis factor gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24383550|REF_RGD_ID:10450610 12373160 TNF tumor necrosis factor gene DOID:9001579 Neurogenic Inflammation ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21570423 12373160 TNF tumor necrosis factor gene DOID:9001579 Neurogenic Inflammation ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:23333565|REF_RGD_ID:7245573 12373160 TNF tumor necrosis factor gene DOID:9001579 Neurogenic Inflammation ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:23333565|REF_RGD_ID:7245573 12373160 TNF tumor necrosis factor gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 12373160 TNF tumor necrosis factor gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:11429 D RGD:9068941 20210423 RGD protein:increased expression:blood serum (mouse) PMID:26569409|REF_RGD_ID:11344640 12373160 TNF tumor necrosis factor gene DOID:9001586 Experimental Liver Neoplasms treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD Morris hepatoma PMID:9063767|REF_RGD_ID:14696818 12373160 TNF tumor necrosis factor gene DOID:9001600 Wounds and Injuries ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 12373160 TNF tumor necrosis factor gene DOID:9001650 Pregnancy-Induced Hypertension treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:18981324|REF_RGD_ID:13825265 12373160 TNF tumor necrosis factor gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20981132 12373160 TNF tumor necrosis factor gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1344192 D RGD:9068941 20220922 RGD protein:increased expression:blood serum (human) PMID:32178736|REF_RGD_ID:155230830 12373160 TNF tumor necrosis factor gene DOID:9001686 Acute Coronary Syndrome treatment ISO RGD:3876 D RGD:9068941 20220922 RGD PMID:32178736|REF_RGD_ID:155230830 12373160 TNF tumor necrosis factor gene DOID:9001708 Hemorrhagic Shock ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 12373160 TNF tumor necrosis factor gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24315526|REF_RGD_ID:10450602 12373160 TNF tumor necrosis factor gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:9032201|REF_RGD_ID:4143479 12373160 TNF tumor necrosis factor gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:11429 D RGD:9068941 20200609 RGD associated with influenza;protein:increased expression:lung PMID:17348295|REF_RGD_ID:4145366 12373160 TNF tumor necrosis factor gene DOID:9002153 Chronic Allograft Dysfunction treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24598936|REF_RGD_ID:10450586 12373160 TNF tumor necrosis factor gene DOID:9002159 Liver Reperfusion Injury ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:10454827|PMID:17164725|REF_RGD_ID:14696803|REF_RGD_ID:14985258 12373160 TNF tumor necrosis factor gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:11429 D RGD:9068941 20220930 RGD PMID:32155285|REF_RGD_ID:155260323 12373160 TNF tumor necrosis factor gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:3876 D RGD:9068941 20200820 RGD PMID:11129814|PMID:11592783|PMID:15457564|PMID:19357028|PMID:21125813|PMID:24726586|REF_RGD_ID:10450597|REF_RGD_ID:14985257|REF_RGD_ID:14995447|REF_RGD_ID:14995473|REF_RGD_ID:15039406|REF_RGD_ID:2325259 12373160 TNF tumor necrosis factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:16141456|REF_RGD_ID:1580311 12373160 TNF tumor necrosis factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:16336586|REF_RGD_ID:1580208 12373160 TNF tumor necrosis factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:12969138|REF_RGD_ID:1580296 12373160 TNF tumor necrosis factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:urine PMID:21441310|REF_RGD_ID:5135032 12373160 TNF tumor necrosis factor gene DOID:9002170 Experimental Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12627504|PMID:1674182|PMID:3361654 12373160 TNF tumor necrosis factor gene DOID:9002211 Hyperalgesia ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:10825476|PMID:18790011|REF_RGD_ID:7394737|REF_RGD_ID:7394741 12373160 TNF tumor necrosis factor gene DOID:9002211 Hyperalgesia ISO RGD:11429 D RGD:9068941 20200609 RGD associated with Diabetic Neuropathies; PMID:21104419|REF_RGD_ID:7401179 12373160 TNF tumor necrosis factor gene DOID:9002211 Hyperalgesia ISO RGD:11429 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord: PMID:18790011|REF_RGD_ID:7394737 12373160 TNF tumor necrosis factor gene DOID:9002211 Hyperalgesia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10401557|PMID:12727271|PMID:16472913|PMID:17320857|PMID:18463260|PMID:18582539|PMID:20383154|PMID:26141506|PMID:27093858|PMID:7582491|PMID:7881729 12373160 TNF tumor necrosis factor gene DOID:9002211 Hyperalgesia ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:16675114|PMID:17304130|PMID:17459378|REF_RGD_ID:7387300|REF_RGD_ID:7387302|REF_RGD_ID:7394757 12373160 TNF tumor necrosis factor gene DOID:9002211 Hyperalgesia ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:lumbar vertebra: PMID:16675114|REF_RGD_ID:7387300 12373160 TNF tumor necrosis factor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:22945689|REF_RGD_ID:11041895 12373160 TNF tumor necrosis factor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow, blood, lymphocyte PMID:12010662|REF_RGD_ID:10449463 12373160 TNF tumor necrosis factor gene DOID:9002371 Cardiotoxicity ISO RGD:1344192 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism PMID:29959987|PMID:32068018 12373160 TNF tumor necrosis factor gene DOID:9002395 Hypothermia ISO RGD:1344192 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:16369138|PMID:34942311 12373160 TNF tumor necrosis factor gene DOID:9002457 Experimental Arthritis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19203382|PMID:19330884|PMID:19765281|PMID:20131233|PMID:20974942|PMID:21452922|PMID:22450443|PMID:7589090|PMID:9598899 12373160 TNF tumor necrosis factor gene DOID:9002457 Experimental Arthritis ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24394943|REF_RGD_ID:10450611 12373160 TNF tumor necrosis factor gene DOID:9002457 Experimental Arthritis ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19169271|REF_RGD_ID:8662976 12373160 TNF tumor necrosis factor gene DOID:9002457 Experimental Arthritis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:21690068|PMID:23052485|PMID:23140046|PMID:24028507|PMID:29408684|REF_RGD_ID:10755447|REF_RGD_ID:13792834|REF_RGD_ID:7193038|REF_RGD_ID:7245941|REF_RGD_ID:8661761 12373160 TNF tumor necrosis factor gene DOID:9002549 Shock treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:2040364|PMID:7537468|REF_RGD_ID:10450572|REF_RGD_ID:10450732 12373160 TNF tumor necrosis factor gene DOID:9002554 Tachycardia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10379864 12373160 TNF tumor necrosis factor gene DOID:9002676 Cerebral Hemorrhage ameliorates ISO RGD:3876 D RGD:9068941 20230504 RGD PMID:31376096|REF_RGD_ID:329337378 12373160 TNF tumor necrosis factor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:11421579|REF_RGD_ID:12904661 12373160 TNF tumor necrosis factor gene DOID:9002884 Emphysema ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:15805183|REF_RGD_ID:4143415 12373160 TNF tumor necrosis factor gene DOID:9002906 Multiple Organ Failure ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10890648|PMID:9696492 12373160 TNF tumor necrosis factor gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:15681845|PMID:19342600|REF_RGD_ID:7394795|REF_RGD_ID:7394799 12373160 TNF tumor necrosis factor gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:cochlea: PMID:19051071|REF_RGD_ID:7394705 12373160 TNF tumor necrosis factor gene DOID:9002928 Colonic Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12842827|PMID:19028472 12373160 TNF tumor necrosis factor gene DOID:9002953 Escherichia Coli Infections ISO RGD:3876 D RGD:9068941 20200820 RGD protein:increased expression:serum (rat) PMID:9466473|REF_RGD_ID:38508904 12373160 TNF tumor necrosis factor gene DOID:9002955 Nerve Degeneration ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15153526|PMID:22921461|PMID:9710261 12373160 TNF tumor necrosis factor gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:16322490|REF_RGD_ID:1580310 12373160 TNF tumor necrosis factor gene DOID:9003291 Aggressive Fibromatosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19944662 12373160 TNF tumor necrosis factor gene DOID:9003470 Picornaviridae Infections ISO RGD:11429 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive;mRNA,protein:increased expression:lung PMID:19748999|REF_RGD_ID:4145626 12373160 TNF tumor necrosis factor gene DOID:9003505 Venous Thromboembolism ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22473048 12373160 TNF tumor necrosis factor gene DOID:9003507 Premature Birth ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27748297 12373160 TNF tumor necrosis factor gene DOID:9003817 Sudden Hearing Loss ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:11189185|REF_RGD_ID:7394753 12373160 TNF tumor necrosis factor gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis severity ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19690440|REF_RGD_ID:7245518 12373160 TNF tumor necrosis factor gene DOID:9003936 Cardiomegaly ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15302781|PMID:17337591|PMID:18034274 12373160 TNF tumor necrosis factor gene DOID:9004009 Reperfusion Injury ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10706834|PMID:12024109|PMID:15829914|PMID:16971220|PMID:17112405|PMID:18460982|PMID:19058328|PMID:23743330|PMID:23875703|PMID:24898700 12373160 TNF tumor necrosis factor gene DOID:9004017 Chronic Hepatitis C ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9047083|REF_RGD_ID:14995307 12373160 TNF tumor necrosis factor gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:9440625|REF_RGD_ID:14995439 12373160 TNF tumor necrosis factor gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1344192 D RGD:9068941 20200813 RGD PMID:25708446|REF_RGD_ID:38456002 12373160 TNF tumor necrosis factor gene DOID:9004283 Transplant Rejection ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:8094579|REF_RGD_ID:7401188 12373160 TNF tumor necrosis factor gene DOID:9004283 Transplant Rejection treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:2338821|REF_RGD_ID:8548836 12373160 TNF tumor necrosis factor gene DOID:9004484 Sepsis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15489642|PMID:8741040|PMID:9806674 12373160 TNF tumor necrosis factor gene DOID:9004484 Sepsis ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:15665729|REF_RGD_ID:5147745 12373160 TNF tumor necrosis factor gene DOID:9004484 Sepsis ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:19695174|REF_RGD_ID:4144094 12373160 TNF tumor necrosis factor gene DOID:9004484 Sepsis treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:27488951|REF_RGD_ID:14975262 12373160 TNF tumor necrosis factor gene DOID:9004484 Sepsis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24055021|REF_RGD_ID:7364867 12373160 TNF tumor necrosis factor gene DOID:9004501 Meningeal Tuberculosis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:10318940|REF_RGD_ID:10449456 12373160 TNF tumor necrosis factor gene DOID:9004531 Cardiovirus Infections ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10609881 12373160 TNF tumor necrosis factor gene DOID:9004538 Hearing Loss ISO RGD:11429 D RGD:9068941 20200609 RGD associated with Cytomegalovirus Infections;protein:increased expression:scala tympani: PMID:22001951|REF_RGD_ID:7394702 12373160 TNF tumor necrosis factor gene DOID:9004547 Thyroid Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 12373160 TNF tumor necrosis factor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22199285|PMID:23431386|PMID:23899529|PMID:24613819 12373160 TNF tumor necrosis factor gene DOID:9004590 Acute Liver Failure ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19505222 12373160 TNF tumor necrosis factor gene DOID:9004590 Acute Liver Failure ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:18070011|REF_RGD_ID:4144156 12373160 TNF tumor necrosis factor gene DOID:9004590 Acute Liver Failure severity ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:10979906|REF_RGD_ID:14995442 12373160 TNF tumor necrosis factor gene DOID:9004590 Acute Liver Failure treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:18946736|REF_RGD_ID:14700674 12373160 TNF tumor necrosis factor gene DOID:9004590 Acute Liver Failure treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:12960499|REF_RGD_ID:10450538 12373160 TNF tumor necrosis factor gene DOID:9004610 Acute Lung Injury ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (rs1800629) (human) PMID:30412745|REF_RGD_ID:14975158 12373160 TNF tumor necrosis factor gene DOID:9004610 Acute Lung Injury ISO RGD:1344192 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34390737 12373160 TNF tumor necrosis factor gene DOID:9004610 Acute Lung Injury ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:21767135|REF_RGD_ID:6480432 12373160 TNF tumor necrosis factor gene DOID:9004610 Acute Lung Injury ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:19106808|REF_RGD_ID:5147925 12373160 TNF tumor necrosis factor gene DOID:9004610 Acute Lung Injury no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs1799964 (human) PMID:30412745|REF_RGD_ID:14975158 12373160 TNF tumor necrosis factor gene DOID:9004610 Acute Lung Injury treatment ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Liver Reperfusion Injury PMID:11129814|REF_RGD_ID:14995473 12373160 TNF tumor necrosis factor gene DOID:9004649 Heat Stroke ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16878031|PMID:24039931 12373160 TNF tumor necrosis factor gene DOID:9004657 Weight Gain ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20521320 12373160 TNF tumor necrosis factor gene DOID:9004751 Nausea ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10379864 12373160 TNF tumor necrosis factor gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9032749 12373160 TNF tumor necrosis factor gene DOID:9004932 Eales Disease ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:19585364|REF_RGD_ID:7401211 12373160 TNF tumor necrosis factor gene DOID:9004932 Eales Disease ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:promoter PMID:20720222|REF_RGD_ID:7364860 12373160 TNF tumor necrosis factor gene DOID:9004932 Eales Disease ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:vitreous fluid: PMID:21394064|REF_RGD_ID:7387275 12373160 TNF tumor necrosis factor gene DOID:9004932 Eales Disease disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21849807|REF_RGD_ID:7394772 12373160 TNF tumor necrosis factor gene DOID:9004932 Eales Disease severity ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21139707|REF_RGD_ID:7387277 12373160 TNF tumor necrosis factor gene DOID:9004974 Painful Neuropathy ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:10825476|PMID:18394803|REF_RGD_ID:7394739|REF_RGD_ID:7394741 12373160 TNF tumor necrosis factor gene DOID:9004974 Painful Neuropathy ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:Schwann cell PMID:11376190|REF_RGD_ID:7394735 12373160 TNF tumor necrosis factor gene DOID:9004974 Painful Neuropathy ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:9514564|REF_RGD_ID:7394740 12373160 TNF tumor necrosis factor gene DOID:9005172 Lung Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14587096|PMID:22369883 12373160 TNF tumor necrosis factor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:19755514|REF_RGD_ID:7401185 12373160 TNF tumor necrosis factor gene DOID:9005236 Drug Eruptions ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31150805 12373160 TNF tumor necrosis factor gene DOID:9005254 Systemic Candidiasis ISO RGD:11429 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spleen, plasma PMID:11562071|REF_RGD_ID:10449457 12373160 TNF tumor necrosis factor gene DOID:9005269 Stable Angina ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20981132 12373160 TNF tumor necrosis factor gene DOID:9005372 Inflammation ISO RGD:1344192 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:11181422|PMID:12843254|PMID:14970111|PMID:16001271|PMID:16227999|PMID:19324842|PMID:19803787|PMID:20167660|PMID:20943792|PMID:21146893|PMID:21467745|PMID:22452660|PMID:23348408|PMID:23371441|PMID:23795810|PMID:34942311 12373160 TNF tumor necrosis factor gene DOID:9005372 Inflammation treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:25706245|PMID:26069367|REF_RGD_ID:11059519|REF_RGD_ID:11059520 12373160 TNF tumor necrosis factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12123627|PMID:12193562|PMID:19478208|PMID:20388520|PMID:22138235|PMID:24513509 12373160 TNF tumor necrosis factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:20555424|REF_RGD_ID:4142788 12373160 TNF tumor necrosis factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:21481476|REF_RGD_ID:5131250 12373160 TNF tumor necrosis factor gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:19220660|PMID:24374093|REF_RGD_ID:10450575|REF_RGD_ID:2312478 12373160 TNF tumor necrosis factor gene DOID:9005724 Fungal Lung Diseases ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:16544260|REF_RGD_ID:4145506 12373160 TNF tumor necrosis factor gene DOID:9005749 Necrosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10631206|PMID:10909967|PMID:22345571|PMID:24548419 12373160 TNF tumor necrosis factor gene DOID:9005873 Tongue Neoplasms ISO RGD:11429 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:tongue: PMID:14747060|REF_RGD_ID:7401243 12373160 TNF tumor necrosis factor gene DOID:9005873 Tongue Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:saliva PMID:21397550|REF_RGD_ID:7401244 12373160 TNF tumor necrosis factor gene DOID:9005882 Spine Osteoarthritis ISO RGD:1344192 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34697729 12373160 TNF tumor necrosis factor gene DOID:9005883 Pleural Effusion ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2518282 12373160 TNF tumor necrosis factor gene DOID:9005930 Endotoxemia ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:20519137|PMID:21396682|REF_RGD_ID:5147765|REF_RGD_ID:5147779 12373160 TNF tumor necrosis factor gene DOID:9005930 Endotoxemia ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17324147|REF_RGD_ID:4891465 12373160 TNF tumor necrosis factor gene DOID:9005930 Endotoxemia ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:8283134|REF_RGD_ID:14995443 12373160 TNF tumor necrosis factor gene DOID:9005930 Endotoxemia treatment ISO RGD:11429 D RGD:9068941 20210312 RGD XCO:0000822 JTE-607 PMID:10493164|REF_RGD_ID:40903016 12373160 TNF tumor necrosis factor gene DOID:9005930 Endotoxemia treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:12813371|PMID:18078960|REF_RGD_ID:14995427|REF_RGD_ID:15023464 12373160 TNF tumor necrosis factor gene DOID:9005930 Endotoxemia treatment ISO RGD:3876 D RGD:9068941 20200820 RGD associated with liver cirrhosis PMID:15242491|REF_RGD_ID:38501090 12373160 TNF tumor necrosis factor gene DOID:9005941 Rhinosinusitis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:20147558|REF_RGD_ID:7401236 12373160 TNF tumor necrosis factor gene DOID:9005941 Rhinosinusitis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium PMID:11197112|REF_RGD_ID:7401169 12373160 TNF tumor necrosis factor gene DOID:9005968 Neuralgia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20846523 12373160 TNF tumor necrosis factor gene DOID:9006024 Hypotension ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10379864|PMID:15384034 12373160 TNF tumor necrosis factor gene DOID:9006081 Osteolysis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15878362 12373160 TNF tumor necrosis factor gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24826482|REF_RGD_ID:10450584 12373160 TNF tumor necrosis factor gene DOID:9006205 Animal Disease Models ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12373160 TNF tumor necrosis factor gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19925291|REF_RGD_ID:2315112 12373160 TNF tumor necrosis factor gene DOID:9006262 Cytomegalovirus Infections ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:7815559|REF_RGD_ID:12904072 12373160 TNF tumor necrosis factor gene DOID:9006281 Temporomandibular Joint Disorders severity ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with connective tissue diseases; PMID:10800908|REF_RGD_ID:7401181 12373160 TNF tumor necrosis factor gene DOID:9006388 Vulvar Vestibulitis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:vagina PMID:9015038|REF_RGD_ID:7394738 12373160 TNF tumor necrosis factor gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24441717|REF_RGD_ID:10450604 12373160 TNF tumor necrosis factor gene DOID:9006647 Experimental Autoimmune Neuritis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:18400050|REF_RGD_ID:7401218 12373160 TNF tumor necrosis factor gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1344192 D RGD:9068941 20211015 CTD CTD Direct Evidence: marker/mechanism PMID:33961948 12373160 TNF tumor necrosis factor gene DOID:9006709 Primary Graft Dysfunction treatment ISO RGD:3876 D RGD:9068941 20200609 RGD liver PMID:18972563|REF_RGD_ID:15023490 12373160 TNF tumor necrosis factor gene DOID:9006741 Acute Hepatitis disease_progression ISO RGD:11429 D RGD:9068941 20210423 RGD protein:increased expression:blood serum (mouse) PMID:26569409|REF_RGD_ID:11344640 12373160 TNF tumor necrosis factor gene DOID:9006741 Acute Hepatitis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:15476865|REF_RGD_ID:14688052 12373160 TNF tumor necrosis factor gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1344192 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 12373160 TNF tumor necrosis factor gene DOID:9006827 Lung Reperfusion Injury ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:17294835|REF_RGD_ID:4143397 12373160 TNF tumor necrosis factor gene DOID:9006827 Lung Reperfusion Injury ameliorates ISO RGD:11429 D RGD:9068941 20220915 RGD PMID:34238924|REF_RGD_ID:153350155 12373160 TNF tumor necrosis factor gene DOID:9006844 Streptococcal Infections ISO RGD:8789275 D RGD:9068941 20200609 RGD associated with Otitis Media PMID:8302123|REF_RGD_ID:11554174 12373160 TNF tumor necrosis factor gene DOID:9006928 Viral Bronchiolitis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:nasal lavage fluid PMID:20088864|REF_RGD_ID:4143440 12373160 TNF tumor necrosis factor gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP: :rs1799724(human) PMID:17703412|REF_RGD_ID:4889847 12373160 TNF tumor necrosis factor gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: c. -308A>G (human) PMID:19849941|REF_RGD_ID:4143441 12373160 TNF tumor necrosis factor gene DOID:9006944 Alcoholic Fatty Liver susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-238G>A (human) PMID:9214463|REF_RGD_ID:14995434 12373160 TNF tumor necrosis factor gene DOID:9006944 Alcoholic Fatty Liver treatment ISO RGD:3876 D RGD:9068941 20200820 RGD PMID:20143470|REF_RGD_ID:38508901 12373160 TNF tumor necrosis factor gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17909696 12373160 TNF tumor necrosis factor gene DOID:9007039 Ventricular Dysfunction ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20626112 12373160 TNF tumor necrosis factor gene DOID:9007073 Cough ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:10325899|REF_RGD_ID:4143478 12373160 TNF tumor necrosis factor gene DOID:9007096 Stroke ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10950380 12373160 TNF tumor necrosis factor gene DOID:9007096 Stroke ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:21171972|REF_RGD_ID:4891154 12373160 TNF tumor necrosis factor gene DOID:9007096 Stroke susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:polymorphism:promoter:-308G>A(rs1800629)(human) PMID:14615367|REF_RGD_ID:11529997 12373160 TNF tumor necrosis factor gene DOID:9007102 Myocardial Ischemia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533|PMID:16775501 12373160 TNF tumor necrosis factor gene DOID:9007153 Pediatric Crohn's Disease ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:11321389|REF_RGD_ID:7394742 12373160 TNF tumor necrosis factor gene DOID:9007188 Liver Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24183702 12373160 TNF tumor necrosis factor gene DOID:9007346 Cachexia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17878525 12373160 TNF tumor necrosis factor gene DOID:9007346 Cachexia ISO RGD:3876 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma;mRNA:altered expression:skeletal muscle tissue, adipose tissue (rat) PMID:16077938|REF_RGD_ID:1624190 12373160 TNF tumor necrosis factor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17709330|PMID:19638433|PMID:20623750|PMID:21984482|PMID:7532385|PMID:9696492 12373160 TNF tumor necrosis factor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:11124822|PMID:17070847|REF_RGD_ID:14696804|REF_RGD_ID:14995429 12373160 TNF tumor necrosis factor gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:10801288|REF_RGD_ID:14995437 12373160 TNF tumor necrosis factor gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:10801287|PMID:29091898|PMID:31077717|REF_RGD_ID:14975281|REF_RGD_ID:14995435|REF_RGD_ID:15090820 12373160 TNF tumor necrosis factor gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:14686721|PMID:15830285|PMID:29091898|PMID:31342809|PMID:9309314|REF_RGD_ID:10450531|REF_RGD_ID:14995432|REF_RGD_ID:14995485|REF_RGD_ID:15036799|REF_RGD_ID:15090820 12373160 TNF tumor necrosis factor gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:11429 D RGD:9068941 20200702 RGD PMID:27175332|PMID:8168971|REF_RGD_ID:10450561|REF_RGD_ID:32733623 12373160 TNF tumor necrosis factor gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Agranulocytosis PMID:7923933|REF_RGD_ID:10450534 12373160 TNF tumor necrosis factor gene DOID:9007429 Soft Tissue Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16767912|PMID:17203757 12373160 TNF tumor necrosis factor gene DOID:9007480 Hyperoxia ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:8679214|REF_RGD_ID:10449454 12373160 TNF tumor necrosis factor gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:15164724|REF_RGD_ID:1580295 12373160 TNF tumor necrosis factor gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Anemia, Hemolytic PMID:12845374|REF_RGD_ID:10449461 12373160 TNF tumor necrosis factor gene DOID:9007588 Heart Injuries ameliorates ISO RGD:11429 D RGD:9068941 20230330 RGD associated with obesity PMID:32084395|REF_RGD_ID:242905211 12373160 TNF tumor necrosis factor gene DOID:9007692 Insulin Resistance ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16493877|PMID:20943792 12373160 TNF tumor necrosis factor gene DOID:9007692 Insulin Resistance ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:16202847|REF_RGD_ID:1580312 12373160 TNF tumor necrosis factor gene DOID:9007692 Insulin Resistance ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:14764603|REF_RGD_ID:1580214 12373160 TNF tumor necrosis factor gene DOID:9007692 Insulin Resistance treatment ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Obesity PMID:25016878|REF_RGD_ID:10450578 12373160 TNF tumor necrosis factor gene DOID:9007692 Insulin Resistance treatment ISO RGD:3876 D RGD:9068941 20200609 RGD associated with obesity PMID:9832430|REF_RGD_ID:14995428 12373160 TNF tumor necrosis factor gene DOID:9007730 Burns ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18277951 12373160 TNF tumor necrosis factor gene DOID:9007730 Burns treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:26152211|REF_RGD_ID:11049530 12373160 TNF tumor necrosis factor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:serum, heart: PMID:24157164|REF_RGD_ID:7387274 12373160 TNF tumor necrosis factor gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3876 D RGD:9068941 20220929 RGD PMID:31583047|REF_RGD_ID:155230831 12373160 TNF tumor necrosis factor gene DOID:9007964 Arsenic Poisoning ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12373160 TNF tumor necrosis factor gene DOID:9008 psoriatic arthritis ISO RGD:1344192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to PMID:10450718|PMID:11261930|PMID:11506397|PMID:11826025|PMID:11896460|PMID:12485196|PMID:12746914|PMID:12759288|PMID:14681301|PMID:14718719|PMID:16418737|PMID:16720636|PMID:16865291|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668|PMID:8056188|PMID:9818939 12373160 TNF tumor necrosis factor gene DOID:9008 psoriatic arthritis susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP: :-238G>A(rs361525)(human) PMID:9326391|REF_RGD_ID:7394813 12373160 TNF tumor necrosis factor gene DOID:9008443 Colorectal Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23431386 12373160 TNF tumor necrosis factor gene DOID:9008455 High-Frequency Hearing Loss ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:23996384|REF_RGD_ID:7394699 12373160 TNF tumor necrosis factor gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung: DNA:SNPs: :rs1799724(human) PMID:20811626|REF_RGD_ID:5131286 12373160 TNF tumor necrosis factor gene DOID:9008614 Cardiovascular Pregnancy Complications ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10716473 12373160 TNF tumor necrosis factor gene DOID:9008680 Respiratory Tract Infections ISO RGD:1344192 D RGD:9068941 20200609 RGD Severe Acute Respiratory Syndrome; protein:increased expression:serum PMID:14633438|REF_RGD_ID:4145665 12373160 TNF tumor necrosis factor gene DOID:9008821 Otitis Media with Effusion ISO RGD:11429 D RGD:9068941 20200609 RGD protein:increased expression:middle ear effusion: PMID:18568516|REF_RGD_ID:7394746 12373160 TNF tumor necrosis factor gene DOID:9008939 Breast Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037|PMID:17516992|PMID:19446661 12373160 TNF tumor necrosis factor gene DOID:9009073 Diaphragmatic Hernia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10541330 12373160 TNF tumor necrosis factor gene DOID:9065 leishmaniasis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16540374 12373160 TNF tumor necrosis factor gene DOID:9074 systemic lupus erythematosus ISO RGD:1344192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:10450718|PMID:11261930|PMID:11506397|PMID:11826025|PMID:11896460|PMID:12485196|PMID:12746914|PMID:12759288|PMID:14681301|PMID:14718719|PMID:16418737|PMID:16720636|PMID:16865291|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668|PMID:8056188|PMID:9818939 12373160 TNF tumor necrosis factor gene DOID:9111 cutaneous leishmaniasis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20102417 12373160 TNF tumor necrosis factor gene DOID:9111 cutaneous leishmaniasis no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (rs1800629) (human) PMID:16950634|REF_RGD_ID:8548800 12373160 TNF tumor necrosis factor gene DOID:9120 amyloidosis ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid PMID:14613268|REF_RGD_ID:10450570 12373160 TNF tumor necrosis factor gene DOID:9146 visceral leishmaniasis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:15579454|REF_RGD_ID:8548789 12373160 TNF tumor necrosis factor gene DOID:9146 visceral leishmaniasis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1901333|PMID:22461696 12373160 TNF tumor necrosis factor gene DOID:9146 visceral leishmaniasis severity ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:12438370|REF_RGD_ID:8548784 12373160 TNF tumor necrosis factor gene DOID:9155 mucocutaneous leishmaniasis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (human) PMID:7595196|REF_RGD_ID:8548799 12373160 TNF tumor necrosis factor gene DOID:9279 hyperhomocysteinemia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12615666 12373160 TNF tumor necrosis factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24513509 12373160 TNF tumor necrosis factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:28843383|REF_RGD_ID:14975146 12373160 TNF tumor necrosis factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:20559450|REF_RGD_ID:5130987 12373160 TNF tumor necrosis factor gene DOID:9402 epididymitis ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:29311626|REF_RGD_ID:13792835 12373160 TNF tumor necrosis factor gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:3876 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 12373160 TNF tumor necrosis factor gene DOID:9452 fatty liver disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23348005 12373160 TNF tumor necrosis factor gene DOID:9538 multiple myeloma no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (human) PMID:12815949|REF_RGD_ID:10449453 12373160 TNF tumor necrosis factor gene DOID:9538 multiple myeloma treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-238G>A (human) PMID:12200397|REF_RGD_ID:10449450 12373160 TNF tumor necrosis factor gene DOID:9563 bronchiectasis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17931847 12373160 TNF tumor necrosis factor gene DOID:9563 bronchiectasis severity ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18221721|REF_RGD_ID:12904660 12373160 TNF tumor necrosis factor gene DOID:9588 encephalitis ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:16006567|REF_RGD_ID:5147676 12373160 TNF tumor necrosis factor gene DOID:9675 pulmonary emphysema ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25106431 12373160 TNF tumor necrosis factor gene DOID:9743 diabetic neuropathy treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:23280817|REF_RGD_ID:7401217 12373160 TNF tumor necrosis factor gene DOID:9744 type 1 diabetes mellitus ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23640034 12373160 TNF tumor necrosis factor gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:19120272|REF_RGD_ID:2313253 12373160 TNF tumor necrosis factor gene DOID:9767 myocardial stunning ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11927517 12373160 TNF tumor necrosis factor gene DOID:9784 trichinosis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:19564380|REF_RGD_ID:8548805 12373160 TNF tumor necrosis factor gene DOID:9884 muscular dystrophy ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:10235436|REF_RGD_ID:10449464 12373160 TNF tumor necrosis factor gene DOID:9970 obesity ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11328671|PMID:20141834|PMID:29035695|PMID:9502777 12373160 TNF tumor necrosis factor gene DOID:9970 obesity ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:28843383|REF_RGD_ID:14975146 12373160 TNF tumor necrosis factor gene DOID:9970 obesity treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:24146106|REF_RGD_ID:10450599 12373160 TNF tumor necrosis factor gene DOID:9993 hypoglycemia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8774068 12373160 Tnf tumor necrosis factor gene DOID:9001725 Retina Reperfusion Injury ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:18660426|REF_RGD_ID:7387281 12373160 Tnf tumor necrosis factor gene DOID:9004283 Transplant Rejection ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:2038191|REF_RGD_ID:7394793 12373167 APTX aprataxin gene DOID:0050730 coenzyme Q10 deficiency disease ISO RGD:1606553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Oculomotor Apraxia Type PMID:24033266|PMID:25741868|PMID:26285866|PMID:26467025|PMID:28492532 12373167 APTX aprataxin gene DOID:0050754 ataxia with oculomotor apraxia type 1 ISO RGD:1606553 D RGD:7240710 20180130 OMIM 12373167 APTX aprataxin gene DOID:0050754 ataxia with oculomotor apraxia type 1 ISO RGD:1606553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia PMID:11176957|PMID:11294920|PMID:11586299|PMID:11586300|PMID:12196655|PMID:12629250|PMID:14506070|PMID:15164193|PMID:15276230|PMID:15365154|PMID:15596775|PMID:15699391|PMID:15719174|PMID:15790557|PMID:15852392|PMID:15876520|PMID:15996403|PMID:16400613|PMID:16700949|PMID:17242337|PMID:18004640|PMID:18403580|PMID:21228398|PMID:21465257|PMID:21486904|PMID:21984210|PMID:23183622|PMID:23659632|PMID:24033266|PMID:24362567|PMID:25637650|PMID:25741868|PMID:26285866|PMID:26467025|PMID:28492532|PMID:28516743|PMID:28652255|PMID:28881617|PMID:29356829|PMID:29482223|PMID:29934293|PMID:31493945|PMID:32214227|PMID:32606550|PMID:32750061|PMID:33624863 12373167 APTX aprataxin gene DOID:0050754 ataxia with oculomotor apraxia type 1 susceptibility ISO RGD:1606553 D RGD:9068941 20200609 RGD DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human) PMID:12196655|REF_RGD_ID:1599207 12373167 APTX aprataxin gene DOID:0050755 ataxia with oculomotor apraxia type 2 ISO RGD:1606553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 PMID:24033266|PMID:25741868|PMID:26285866|PMID:26467025|PMID:28492532 12373167 APTX aprataxin gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1606553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12373167 APTX aprataxin gene DOID:0070238 primary coenzyme Q10 deficiency 1 ISO RGD:1606553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1 12373167 APTX aprataxin gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1606553 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12373167 APTX aprataxin gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1606553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12373167 APTX aprataxin gene DOID:14784 olivopontocerebellar atrophy ISO RGD:1606553 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:725G>A,457A>G(human) PMID:21465257|REF_RGD_ID:10054301 12373167 APTX aprataxin gene DOID:630 genetic disease ISO RGD:1606553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11176957|PMID:11294920|PMID:11586299|PMID:11586300|PMID:12629250|PMID:14506070|PMID:15164193|PMID:15276230|PMID:15699391|PMID:15790557|PMID:15876520|PMID:15996403|PMID:16400613|PMID:16700949|PMID:17242337|PMID:18403580|PMID:21465257|PMID:21486904|PMID:24033266|PMID:25741868|PMID:26285866|PMID:26467025|PMID:28492532|PMID:29356829|PMID:29482223|PMID:31493945|PMID:32214227|PMID:32606550|PMID:32750061 12373167 APTX aprataxin gene DOID:9562 primary ciliary dyskinesia ISO RGD:1606553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12373167 APTX aprataxin gene DOID:9870 galactosemia ISO RGD:1606553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12373209 PDZK1 PDZ domain containing 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:732823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12373209 PDZK1 PDZ domain containing 1 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:732823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 12373209 PDZK1 PDZ domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:732823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12373209 PDZK1 PDZ domain containing 1 gene DOID:5419 schizophrenia ISO RGD:732823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12373209 PDZK1 PDZ domain containing 1 gene DOID:630 genetic disease ISO RGD:732823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373209 PDZK1 PDZ domain containing 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12373209 PDZK1 PDZ domain containing 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:732823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12373209 PDZK1 PDZ domain containing 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25751625 12373209 PDZK1 PDZ domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12373226 CHMP2A charged multivesicular body protein 2A gene DOID:630 genetic disease ISO RGD:1603659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373238 RFXANK regulatory factor X associated ankyrin containing protein gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1322827 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 12373238 RFXANK regulatory factor X associated ankyrin containing protein gene DOID:5812 MHC class II deficiency ISO RGD:1322827 D RGD:7240710 20180207 OMIM 12373238 RFXANK regulatory factor X associated ankyrin containing protein gene DOID:5812 MHC class II deficiency ISO RGD:1322827 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency PMID:10803838|PMID:11313409|PMID:12618906|PMID:16166641|PMID:16199547|PMID:17576681|PMID:21908431|PMID:22524894|PMID:22863278|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7951244|PMID:9536098|PMID:9806546 12373238 RFXANK regulatory factor X associated ankyrin containing protein gene DOID:5812 MHC class II deficiency ISO RGD:1322827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: MHC class II deficiency PMID:10725724|PMID:10803838|PMID:11313409|PMID:11463838|PMID:12618906|PMID:16166641|PMID:16199547|PMID:17576681|PMID:21908431|PMID:22524894|PMID:22863278|PMID:24033266|PMID:25741868|PMID:27980538|PMID:28492532|PMID:28916186|PMID:30170160|PMID:32373116|PMID:34330684|PMID:7951244|PMID:9536098|PMID:9806546 12373238 RFXANK regulatory factor X associated ankyrin containing protein gene DOID:612 primary immunodeficiency disease ISO RGD:1322827 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:10725724|PMID:11463838|PMID:25741868 12373238 RFXANK regulatory factor X associated ankyrin containing protein gene DOID:627 severe combined immunodeficiency ISO RGD:1322827 D RGD:9068941 20200609 RGD PMID:12618906|REF_RGD_ID:1599746 12373238 RFXANK regulatory factor X associated ankyrin containing protein gene DOID:630 genetic disease ISO RGD:1322827 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12373238 RFXANK regulatory factor X associated ankyrin containing protein gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1322827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12373258 CNKSR2 connector enhancer of kinase suppressor of Ras 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12373258 CNKSR2 connector enhancer of kinase suppressor of Ras 2 gene DOID:0080242 syndromic X-linked mental retardation Hough type ISO RGD:1350323 D RGD:7240710 20190315 OMIM 12373258 CNKSR2 connector enhancer of kinase suppressor of Ras 2 gene DOID:0080242 syndromic X-linked mental retardation Hough type ISO RGD:1350323 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HOUGE TYPE PMID:25223753|PMID:25644381|PMID:25741868|PMID:28098945|PMID:28492532 12373258 CNKSR2 connector enhancer of kinase suppressor of Ras 2 gene DOID:1059 intellectual disability ISO RGD:1350323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12373258 CNKSR2 connector enhancer of kinase suppressor of Ras 2 gene DOID:12849 autistic disorder ISO RGD:1350323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12373258 CNKSR2 connector enhancer of kinase suppressor of Ras 2 gene DOID:630 genetic disease ISO RGD:1350323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12373258 CNKSR2 connector enhancer of kinase suppressor of Ras 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12373258 CNKSR2 connector enhancer of kinase suppressor of Ras 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 12373296 LOC481722 complement C4-A gene DOID:0050553 JMP syndrome ISO RGD:1605129 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12373296 LOC481722 complement C4-A gene DOID:0060298 complement component 4B deficiency ISO RGD:1605129 D RGD:7240710 20180130 OMIM 12373296 LOC481722 complement C4-A gene DOID:0060298 complement component 4B deficiency ISO RGD:1605129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complement component 4b deficiency PMID:25741868 12373296 LOC481722 complement C4-A gene DOID:12361 Graves' disease ISO RGD:1605129 D RGD:9068941 20200609 RGD PMID:21943165|REF_RGD_ID:5688264 12373296 LOC481722 complement C4-A gene DOID:12849 autistic disorder ISO RGD:1605129 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15694999|PMID:20452682 12373296 LOC481722 complement C4-A gene DOID:12849 autistic disorder ISO RGD:1605129 D RGD:9068941 20200609 RGD PMID:20452682|REF_RGD_ID:5688257 12373296 LOC481722 complement C4-A gene DOID:417 autoimmune disease ISO RGD:1605129 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20452682 12373296 LOC481722 complement C4-A gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1605129 D RGD:9068941 20200609 RGD PMID:19150565|REF_RGD_ID:5688259 12373296 LOC481722 complement C4-A gene DOID:630 genetic disease ISO RGD:1605129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373296 LOC481722 complement C4-A gene DOID:7148 rheumatoid arthritis ISO RGD:1605129 D RGD:9068941 20200609 RGD PMID:22076784|REF_RGD_ID:5688263 12373296 LOC481722 complement C4-A gene DOID:9005236 Drug Eruptions ISO RGD:1605129 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21055120 12373296 LOC481722 complement C4-A gene DOID:9074 systemic lupus erythematosus ISO RGD:10257 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12373296 LOC481722 complement C4-A gene DOID:9074 systemic lupus erythematosus ISO RGD:1605129 D RGD:9068941 20200609 RGD PMID:17503323|REF_RGD_ID:5688260 12373344 BSDC1 BSD domain containing 1 gene DOID:630 genetic disease ISO RGD:1605672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373359 MAGEF1 MAGE family member F1 gene DOID:0111546 Currarino syndrome ISO RGD:1348798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12373359 MAGEF1 MAGE family member F1 gene DOID:630 genetic disease ISO RGD:1348798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373364 ADRA2C adrenoceptor alpha 2C gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:737142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12373364 ADRA2C adrenoceptor alpha 2C gene DOID:6000 congestive heart failure ISO RGD:737142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congestive heart failure and beta-blocker response, modifier of PMID:12374873|PMID:17496726 12373364 ADRA2C adrenoceptor alpha 2C gene DOID:630 genetic disease ISO RGD:737142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373364 ADRA2C adrenoceptor alpha 2C gene DOID:9000784 Fibrosis ISO RGD:737142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20083574 12373364 ADRA2C adrenoceptor alpha 2C gene DOID:9002211 Hyperalgesia ISO RGD:2058 D RGD:9068941 20200609 RGD PMID:20007733|REF_RGD_ID:6893568 12373364 ADRA2C adrenoceptor alpha 2C gene DOID:9003936 Cardiomegaly ISO RGD:737142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20083574 12373364 ADRA2C adrenoceptor alpha 2C gene DOID:9005968 Neuralgia ISO RGD:2058 D RGD:9068941 20200609 RGD PMID:12946573|REF_RGD_ID:6893571 12373372 ELL2 elongation factor for RNA polymerase II 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319566 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12373372 ELL2 elongation factor for RNA polymerase II 2 gene DOID:0080600 COVID-19 ISO RGD:1319566 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12373372 ELL2 elongation factor for RNA polymerase II 2 gene DOID:630 genetic disease ISO RGD:1319566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373372 ELL2 elongation factor for RNA polymerase II 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12373372 ELL2 elongation factor for RNA polymerase II 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319566 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12373388 KLHL36 kelch like family member 36 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1350475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12373388 KLHL36 kelch like family member 36 gene DOID:5419 schizophrenia ISO RGD:1350475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12373388 KLHL36 kelch like family member 36 gene DOID:630 genetic disease ISO RGD:1350475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373403 PTBP2 polypyrimidine tract binding protein 2 gene DOID:630 genetic disease ISO RGD:1343835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373429 G2E3 G2/M-phase specific E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:1321062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373429 G2E3 G2/M-phase specific E3 ubiquitin protein ligase gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321062 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12373463 SYNE3 spectrin repeat containing nuclear envelope family member 3 gene DOID:12858 Huntington's disease ISO RGD:1312072 D RGD:9068941 20200609 RGD up-regulated PMID:22202438|REF_RGD_ID:11073597 12373463 SYNE3 spectrin repeat containing nuclear envelope family member 3 gene DOID:630 genetic disease ISO RGD:1312072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373484 SRA1 steroid receptor RNA activator 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1353576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12373484 SRA1 steroid receptor RNA activator 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353576 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12373484 SRA1 steroid receptor RNA activator 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1353576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12373484 SRA1 steroid receptor RNA activator 1 gene DOID:3614 Kallmann syndrome ISO RGD:1353576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadism with anosmia 12373484 SRA1 steroid receptor RNA activator 1 gene DOID:6000 congestive heart failure severity ISO RGD:1353576 D RGD:9068941 20230401 RGD associated with ischemic cardiomyopathy; RNA:increased expression:heart left ventricle (human) PMID:27317124|REF_RGD_ID:243048444 12373484 SRA1 steroid receptor RNA activator 1 gene DOID:630 genetic disease ISO RGD:1353576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373484 SRA1 steroid receptor RNA activator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12373484 SRA1 steroid receptor RNA activator 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353576 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12373493 DBNL drebrin like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12373493 DBNL drebrin like gene DOID:630 genetic disease ISO RGD:1606301 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12373493 DBNL drebrin like gene DOID:9000884 Rhabdomyolysis ISO RGD:1606301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:28779239 12373493 DBNL drebrin like gene DOID:9005787 Dimauro Disease ISO RGD:1606301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dimauro disease | ClinVar Annotator: match by term: GSD X | ClinVar Annotator: match by term: Myopathy due to phosphoglycerate mutase deficiency PMID:10545043|PMID:16881065|PMID:17576681|PMID:18852891|PMID:19273759|PMID:19322572|PMID:19783439|PMID:21444020|PMID:22995991|PMID:23169535|PMID:23335027|PMID:25741868|PMID:26502762|PMID:27612597|PMID:28492532|PMID:28944235|PMID:2987758|PMID:30310767|PMID:33782433|PMID:6308514|PMID:8447317|PMID:9536098 12373494 CASTOR2 cytosolic arginine sensor for mTORC1 subunit 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2306471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12373507 NUDT17 nudix hydrolase 17 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1350013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 12373507 NUDT17 nudix hydrolase 17 gene DOID:1540 parathyroid carcinoma ISO RGD:1350013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12373507 NUDT17 nudix hydrolase 17 gene DOID:5419 schizophrenia ISO RGD:1350013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12373507 NUDT17 nudix hydrolase 17 gene DOID:630 genetic disease ISO RGD:1350013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373507 NUDT17 nudix hydrolase 17 gene DOID:9008939 Breast Neoplasms ISO RGD:1350013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12373507 NUDT17 nudix hydrolase 17 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12373525 CYB5B cytochrome b5 type B (outer mitochondrial membrane) gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:735287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12373525 CYB5B cytochrome b5 type B (outer mitochondrial membrane) gene DOID:630 genetic disease ISO RGD:735287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373533 MTURN maturin, neural progenitor differentiation regulator homolog gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1603878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 12373533 MTURN maturin, neural progenitor differentiation regulator homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12373533 MTURN maturin, neural progenitor differentiation regulator homolog gene DOID:630 genetic disease ISO RGD:1603878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373557 BOK BCL2 family apoptosis regulator BOK gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:737138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12373557 BOK BCL2 family apoptosis regulator BOK gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:737138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12373557 BOK BCL2 family apoptosis regulator BOK gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:737138 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12373557 BOK BCL2 family apoptosis regulator BOK gene DOID:1059 intellectual disability ISO RGD:737138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12373557 BOK BCL2 family apoptosis regulator BOK gene DOID:10908 hydrocephalus ISO RGD:70984 D RGD:9068941 20200609 RGD mRNA:increased expression:brain:Hydrocephalus-Texas (HTX, RS:0000399) vs. SD (RS:0000681) rats PMID:15964663|REF_RGD_ID:1624238 12373557 BOK BCL2 family apoptosis regulator BOK gene DOID:630 genetic disease ISO RGD:737138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373557 BOK BCL2 family apoptosis regulator BOK gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:737138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12373574 LOC102156626 membrane cofactor protein-like gene DOID:0080998 acute necrotizing pancreatitis severity ISO RGD:3061 D RGD:9068941 20200609 RGD PMID:16425382|REF_RGD_ID:1600479 12373574 LOC102156626 membrane cofactor protein-like gene DOID:10871 age related macular degeneration ISO RGD:736683 D RGD:9068941 20220825 MouseDO 12373574 LOC102156626 membrane cofactor protein-like gene DOID:557 kidney disease ISO RGD:736683 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17594162|REF_RGD_ID:6483464 12373614 DNAJB9 DnaJ heat shock protein family (Hsp40) member B9 gene DOID:13580 cholestasis ISO RGD:737476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12373614 DNAJB9 DnaJ heat shock protein family (Hsp40) member B9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:737476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12373614 DNAJB9 DnaJ heat shock protein family (Hsp40) member B9 gene DOID:630 genetic disease ISO RGD:737476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373614 DNAJB9 DnaJ heat shock protein family (Hsp40) member B9 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12373630 THNSL1 threonine synthase like 1 gene DOID:630 genetic disease ISO RGD:1343746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373647 SLC25A11 solute carrier family 25 member 11 gene DOID:0050941 spastic ataxia 2 ISO RGD:732504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 12373647 SLC25A11 solute carrier family 25 member 11 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:732504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 12373647 SLC25A11 solute carrier family 25 member 11 gene DOID:11394 adult respiratory distress syndrome ISO RGD:732504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12373647 SLC25A11 solute carrier family 25 member 11 gene DOID:630 genetic disease ISO RGD:732504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12373647 SLC25A11 solute carrier family 25 member 11 gene DOID:9005512 Paragangliomas 6 ISO RGD:732504 D RGD:7240710 20190710 OMIM 12373647 SLC25A11 solute carrier family 25 member 11 gene DOID:9005512 Paragangliomas 6 ISO RGD:732504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paragangliomas 6 PMID:25741868|PMID:29431636 12373662 KYAT3 kynurenine aminotransferase 3 gene DOID:630 genetic disease ISO RGD:1606260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373687 OXR1 oxidation resistance 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:736990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:31785787 12373687 OXR1 oxidation resistance 1 gene DOID:0070339 cerebellar hyplasia/atrophy, epilepsy, and global developmental delay ISO RGD:736990 D RGD:7240710 20200325 OMIM 12373687 OXR1 oxidation resistance 1 gene DOID:1826 epilepsy ISO RGD:736990 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:31785787 12373687 OXR1 oxidation resistance 1 gene DOID:630 genetic disease ISO RGD:736990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373687 OXR1 oxidation resistance 1 gene DOID:9004538 Hearing Loss ISO RGD:736990 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hearing impairment 12373738 GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:630 genetic disease ISO RGD:1320757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373738 GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:8445 intestinal volvulus ISO RGD:1320757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12373738 GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:9008386 Hydrops Fetalis ISO RGD:1320757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 12373738 GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1320757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12373761 HEATR5B HEAT repeat containing 5B gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1604000 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: HEATR5B-associated Pontocerebellar hypoplasia PMID:25741868|PMID:33824466 12373761 HEATR5B HEAT repeat containing 5B gene DOID:630 genetic disease ISO RGD:1604000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373816 SHANK2 SH3 and multiple ankyrin repeat domains 2 gene DOID:0060041 autism spectrum disorder ISO RGD:736232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders PMID:22346768|PMID:25741868|PMID:27569545|PMID:30763456 12373816 SHANK2 SH3 and multiple ankyrin repeat domains 2 gene DOID:1059 intellectual disability ISO RGD:736232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 12373816 SHANK2 SH3 and multiple ankyrin repeat domains 2 gene DOID:12849 autistic disorder ISO RGD:736232 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, 17 PMID:20473310|PMID:21994763|PMID:22346768|PMID:25560758|PMID:25741868|PMID:26467025|PMID:27001614|PMID:28492532|PMID:29991577|PMID:30072871|PMID:30911184 12373816 SHANK2 SH3 and multiple ankyrin repeat domains 2 gene DOID:12849 autistic disorder susceptibility ISO RGD:736232 D RGD:7240710 20190502 OMIM 12373816 SHANK2 SH3 and multiple ankyrin repeat domains 2 gene DOID:3312 bipolar disorder ISO RGD:736232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12373816 SHANK2 SH3 and multiple ankyrin repeat domains 2 gene DOID:630 genetic disease ISO RGD:736232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12373816 SHANK2 SH3 and multiple ankyrin repeat domains 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736232 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:20473310|PMID:25741868|PMID:30911184 12373816 SHANK2 SH3 and multiple ankyrin repeat domains 2 gene DOID:9008086 Developmental Disabilities ISO RGD:736232 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12373846 LOC485255 hemoglobin subunit epsilon-2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1351638 D RGD:7240710 20180130 OMIM 12373846 LOC485255 hemoglobin subunit epsilon-2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1351638 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin | ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:10335983|PMID:11822023|PMID:1698280|PMID:18443038|PMID:18667698|PMID:21057501|PMID:2432426|PMID:2441598|PMID:2798417|PMID:6205403|PMID:6208955|PMID:7687855 12373846 LOC485255 hemoglobin subunit epsilon-2 gene DOID:10923 sickle cell anemia severity ISO RGD:1351638 D RGD:9068941 20200609 RGD sickle cell anemia with hereditary persistence of fetal hemoglobin, OMIM:141749 DNA:point_mutation:promoter:-158C>T, decreases the severity of the sickle cell disease which results from the presence of the Hemoglobin S allele PMID:2432426|REF_RGD_ID:1600594 12373846 LOC485255 hemoglobin subunit epsilon-2 gene DOID:3021 acute kidney failure ISO RGD:1351638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:562503|PMID:851170 12373846 LOC485255 hemoglobin subunit epsilon-2 gene DOID:630 genetic disease ISO RGD:1351638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373846 LOC485255 hemoglobin subunit epsilon-2 gene DOID:9000781 Cyanosis ISO RGD:1351638 D RGD:9068941 20200609 RGD DNA:point_mutation:CDS:amino acid Phe41Ser PMID:7741137|REF_RGD_ID:1600598 12373846 LOC485255 hemoglobin subunit epsilon-2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 12373846 LOC485255 hemoglobin subunit epsilon-2 gene DOID:9006812 Transient Neonatal Cyanosis ISO RGD:1351638 D RGD:7240710 20180130 OMIM 12373846 LOC485255 hemoglobin subunit epsilon-2 gene DOID:9006812 Transient Neonatal Cyanosis ISO RGD:1351638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cyanosis, transient neonatal PMID:12603090|PMID:19065339|PMID:21561349|PMID:22935660|PMID:2470017|PMID:2470018|PMID:2483933|PMID:6158500|PMID:7741137|PMID:8811323 12373846 LOC485255 hemoglobin subunit epsilon-2 gene DOID:9008760 Oliguria ISO RGD:1351638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:851170 12373851 EBF4 EBF family member 4 gene DOID:0080600 COVID-19 ISO RGD:1625812 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12373851 EBF4 EBF family member 4 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1625812 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12373851 EBF4 EBF family member 4 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1625812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12373851 EBF4 EBF family member 4 gene DOID:630 genetic disease ISO RGD:1625812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373874 REEP4 receptor accessory protein 4 gene DOID:630 genetic disease ISO RGD:1315250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373874 REEP4 receptor accessory protein 4 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1315250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1318721 D RGD:9068941 20210625 RGD protein:decreased expression:colon, nucleus PMID:27184481|REF_RGD_ID:127285648 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0070045 Coffin-Siris syndrome 3 ISO RGD:1318721 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 PMID:11161377|PMID:17576681|PMID:22426308|PMID:22726846|PMID:23196062|PMID:23637025|PMID:23906836|PMID:24993163|PMID:25168959|PMID:25169651|PMID:25326635|PMID:25462860|PMID:25741868|PMID:25981829|PMID:26364901|PMID:26987750|PMID:28177878|PMID:28492532|PMID:29230670|PMID:31759698|PMID:33024572|PMID:9536098 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0070045 Coffin-Siris syndrome 3 susceptibility ISO RGD:1318721 D RGD:7240710 20230510 OMIM 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1318721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0080799 sinonasal undifferentiated carcinoma ISO RGD:1318721 D RGD:9068941 20210625 RGD PMID:30120966|REF_RGD_ID:127285653 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1318721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1318721 D RGD:9068941 20220414 RGD DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human) PMID:28365909|REF_RGD_ID:151708708 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:1059 intellectual disability ISO RGD:1318721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:1826 epilepsy ISO RGD:1318721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:1925 Coffin-Siris syndrome ISO RGD:1318721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome PMID:10521299|PMID:16199547|PMID:21108436|PMID:21208904|PMID:24933152|PMID:28492532 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:2129 atypical teratoid rhabdoid tumor ISO RGD:1318721 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 | ClinVar Annotator: match by term: Teratoid tumor, atypical PMID:10521299|PMID:10739763|PMID:12226744|PMID:18414213|PMID:19124645|PMID:21108436|PMID:21208904|PMID:24123847|PMID:24728327|PMID:25741868|PMID:28492532|PMID:28873162|PMID:34308366|PMID:9671307|PMID:9892189 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:2129 atypical teratoid rhabdoid tumor susceptibility ISO RGD:1318721 D RGD:7240710 20230510 OMIM 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:2394 ovarian cancer ISO RGD:1318721 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3192 neurilemmoma ISO RGD:1318721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schwannoma PMID:18647326|PMID:22434358|PMID:22949514|PMID:24933152|PMID:25741868|PMID:28492532|PMID:29517885 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3204 neurilemmomatosis ISO RGD:1318721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schwannomatosis | ClinVar Annotator: match by term: Schwannomatosis 1 | ClinVar Annotator: match by term: Schwannomatosis 1, somatic | ClinVar Annotator: match by term: Schwannomatosis 2 PMID:10521299|PMID:17357086|PMID:18285426|PMID:18414213|PMID:18647326|PMID:19124645|PMID:19582488|PMID:20930055|PMID:21208904|PMID:22038540|PMID:22434358|PMID:22949514|PMID:24728327|PMID:24933152|PMID:25741868|PMID:26073604|PMID:28492532|PMID:29517885 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3204 neurilemmomatosis susceptibility ISO RGD:1318721 D RGD:7240710 20230510 OMIM 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3565 meningioma ISO RGD:1318721 D RGD:9068941 20230128 RGD DNA:missense mutation, loss of heterozygosity:cds: c.143C>T (human) PMID:22038540|REF_RGD_ID:155804288 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3672 rhabdoid cancer ISO RGD:1318721 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25009291|PMID:26343384 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3672 rhabdoid cancer ISO RGD:1318721 D RGD:9068941 20200609 RGD DNA:nonsense mutation, deletions, insertions:multiple (human) PMID:9671307|REF_RGD_ID:1599055 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3672 rhabdoid cancer ISO RGD:1318721 D RGD:9068941 20230128 RGD protein:decreased expression:brain, kidney, soft tissue: PMID:16528370|REF_RGD_ID:155804291 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1318721 D RGD:9068941 20230128 RGD mRNA,protein:decreased expression:kidney: PMID:29218250|REF_RGD_ID:155804290 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:5119 ovarian cyst susceptibility ISO RGD:11485 D RGD:9068941 20230128 RGD PMID:29684361|REF_RGD_ID:155804292 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:5419 schizophrenia ISO RGD:1318721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:5485 synovial sarcoma ISO RGD:1318721 D RGD:9068941 20210625 RGD PMID:26520417|REF_RGD_ID:11069485 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:6193 epithelioid sarcoma ISO RGD:1318721 D RGD:9068941 20230128 RGD protein:decreased expression:epithelial cell: PMID:19033866|REF_RGD_ID:155804293 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:630 genetic disease ISO RGD:1318721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18285426|PMID:22726846|PMID:23906836|PMID:25741868|PMID:26364901|PMID:28120103|PMID:28492532 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1318721 D RGD:9068941 20210625 RGD mRNA:decreased expression:liver PMID:27111394|REF_RGD_ID:127285647 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:9001988 Rhabdoid Tumor Predisposition Syndrome 2 ISO RGD:1318721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 PMID:28492532 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10521299|PMID:11161377|PMID:15769941|PMID:17576681|PMID:18285426|PMID:18414213|PMID:18647326|PMID:18676838|PMID:21108436|PMID:21208904|PMID:22426308|PMID:22434358|PMID:22949514|PMID:23196062|PMID:23637025|PMID:24728327|PMID:24993163|PMID:25168959|PMID:25169651|PMID:25462860|PMID:25741868|PMID:25981829|PMID:26073604|PMID:26987750|PMID:27380723|PMID:28177878|PMID:28365909|PMID:28492532|PMID:28873162|PMID:29230670|PMID:29617669|PMID:29706634|PMID:34308366|PMID:9536098|PMID:9892189 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318721 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10521299|PMID:11161377|PMID:12892231|PMID:15769941|PMID:17576681|PMID:18285426|PMID:18414213|PMID:18647326|PMID:18676838|PMID:21108436|PMID:21208904|PMID:22426308|PMID:22434358|PMID:22949514|PMID:23196062|PMID:23637025|PMID:24728327|PMID:24993163|PMID:25168959|PMID:25169651|PMID:25462860|PMID:25741868|PMID:25981829|PMID:26073604|PMID:26987750|PMID:27380723|PMID:28177878|PMID:28365909|PMID:28492532|PMID:28873162|PMID:29230670|PMID:29617669|PMID:29706634|PMID:32218533|PMID:34308366|PMID:9536098|PMID:9892189 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:9007701 Central Nervous System Neoplasms ISO RGD:1318721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of the central nervous system PMID:25741868 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:1318721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 12373886 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:9008582 Developmental Disease ISO RGD:1318721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12373903 UPF2 UPF2 regulator of nonsense mediated mRNA decay gene DOID:0060041 autism spectrum disorder ISO RGD:1319373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12373903 UPF2 UPF2 regulator of nonsense mediated mRNA decay gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1319373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12373903 UPF2 UPF2 regulator of nonsense mediated mRNA decay gene DOID:630 genetic disease ISO RGD:1319373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373930 AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 gene DOID:0060790 hypomyelinating leukodystrophy 3 ISO RGD:1344147 D RGD:7240710 20180130 OMIM 12373930 AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 gene DOID:0060790 hypomyelinating leukodystrophy 3 ISO RGD:1344147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 3 PMID:21092922|PMID:23806086|PMID:24088041|PMID:24958424|PMID:25741868|PMID:26257172|PMID:28492532|PMID:30828585|PMID:30924036|PMID:32531460 12373930 AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 gene DOID:1289 neurodegenerative disease ISO RGD:620466 D RGD:9068941 20200609 RGD PMID:12429238|REF_RGD_ID:724676 12373930 AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 gene DOID:5844 myocardial infarction ISO RGD:620466 D RGD:9068941 20200609 RGD PMID:14732363|REF_RGD_ID:1580021 12373930 AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 gene DOID:630 genetic disease ISO RGD:1344147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12373930 AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1344147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:25741868 12373948 CD84 CD84 molecule gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1349028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 12373948 CD84 CD84 molecule gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1349028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12373948 CD84 CD84 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1349028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12373948 CD84 CD84 molecule gene DOID:630 genetic disease ISO RGD:1349028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12373948 CD84 CD84 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:1349028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12373948 CD84 CD84 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12373968 ADAT1 adenosine deaminase tRNA specific 1 gene DOID:0110989 Joubert syndrome 20 ISO RGD:1320789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 20 PMID:23012439|PMID:23349226|PMID:28492532 12373968 ADAT1 adenosine deaminase tRNA specific 1 gene DOID:10283 prostate cancer ISO RGD:1320789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12373968 ADAT1 adenosine deaminase tRNA specific 1 gene DOID:630 genetic disease ISO RGD:1320789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374020 NYX nyctalopin gene DOID:0050534 congenital stationary night blindness ISO RGD:1350886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness | ClinVar Annotator: match by term: X-linked congenital stationary night blindness PMID:25307992|PMID:28492532|PMID:31456290 12374020 NYX nyctalopin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12374020 NYX nyctalopin gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1350886 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 12374020 NYX nyctalopin gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1350886 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 12374020 NYX nyctalopin gene DOID:0110870 congenital stationary night blindness 1A ISO RGD:1350886 D RGD:7240710 20180130 OMIM 12374020 NYX nyctalopin gene DOID:0110870 congenital stationary night blindness 1A ISO RGD:1350886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1A PMID:11062471|PMID:11062472|PMID:16670814|PMID:17392683|PMID:19578023|PMID:23406521|PMID:25741868|PMID:28492532 12374020 NYX nyctalopin gene DOID:10584 retinitis pigmentosa ISO RGD:1350886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868 12374020 NYX nyctalopin gene DOID:12849 autistic disorder ISO RGD:1350886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12374020 NYX nyctalopin gene DOID:630 genetic disease ISO RGD:1350886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12374020 NYX nyctalopin gene DOID:8499 night blindness susceptibility ISO RGD:1350886 D RGD:9068941 20200609 RGD Congenital stationary night blindness type1A, OMIM:310500;DNA:mutations PMID:11062471|REF_RGD_ID:1601021 12374020 NYX nyctalopin gene DOID:8501 fundus dystrophy ISO RGD:1350886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11062471|PMID:19578023|PMID:25741868|PMID:28492532 12374020 NYX nyctalopin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12374020 NYX nyctalopin gene DOID:9008296 Eye Abnormalities ISO RGD:1350886 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643 12374033 MLPH melanophilin gene DOID:0060834 Griscelli syndrome type 3 ISO RGD:1321808 D RGD:7240710 20180130 OMIM 12374033 MLPH melanophilin gene DOID:0060834 Griscelli syndrome type 3 ISO RGD:1321808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 3 PMID:12148598|PMID:12897212|PMID:21883982|PMID:22711375|PMID:25741868|PMID:26915675|PMID:28492532|PMID:30389201|PMID:31721180 12374033 MLPH melanophilin gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1321808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12374033 MLPH melanophilin gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1321808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12374033 MLPH melanophilin gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1321808 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12374033 MLPH melanophilin gene DOID:1059 intellectual disability ISO RGD:1321808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12374033 MLPH melanophilin gene DOID:630 genetic disease ISO RGD:1321808 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12374033 MLPH melanophilin gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1321808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12374033 MLPH melanophilin gene DOID:987 alopecia IAGP D RGD:12801476 20230118 OMIA Coat colour, dilution, MLPH-related PMID:8257319|PMID:7725619|PMID:8533225|PMID:8735542|PMID:11887392|PMID:12358609|PMID:16131833|PMID:15958794|PMID:15960853|PMID:17519392|PMID:19436637|PMID:16674733|PMID:19521467|PMID:5019544|PMID:591423|PMID:9789677|PMID:29349785|PMID:32531980|PMID:34088257|PMID:34751460|PMID:36427679|PMID:15016299|PMID:35510419 12374053 LAT linker for activation of T cells gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1342944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12374053 LAT linker for activation of T cells gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1342944 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 12374053 LAT linker for activation of T cells gene DOID:0080356 IgG4-related disease ISO RGD:734455 D RGD:9068941 20220825 MouseDO 12374053 LAT linker for activation of T cells gene DOID:0111983 immunodeficiency 52 ISO RGD:1342944 D RGD:7240710 20190315 OMIM 12374053 LAT linker for activation of T cells gene DOID:0111983 immunodeficiency 52 ISO RGD:1342944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to LAT deficiency PMID:25741868|PMID:27242165|PMID:27522155|PMID:28492532 12374053 LAT linker for activation of T cells gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1342944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 12374053 LAT linker for activation of T cells gene DOID:3602 toxic encephalopathy ISO RGD:1342944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12374053 LAT linker for activation of T cells gene DOID:409 liver disease ISO RGD:1342944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12374053 LAT linker for activation of T cells gene DOID:5419 schizophrenia ISO RGD:1342944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12374053 LAT linker for activation of T cells gene DOID:630 genetic disease ISO RGD:1342944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12374053 LAT linker for activation of T cells gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1342944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 12374066 CYBC1 cytochrome b-245 chaperone 1 gene DOID:0070368 autosomal recessive chronic granulomatous disease 5 ISO RGD:1606782 D RGD:7240710 20200722 OMIM 12374066 CYBC1 cytochrome b-245 chaperone 1 gene DOID:0070368 autosomal recessive chronic granulomatous disease 5 ISO RGD:1606782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, 5 PMID:17576681|PMID:28492532|PMID:28600779|PMID:30312704|PMID:30361506|PMID:9536098 12374067 CCND3 cyclin D3 gene DOID:0050444 infantile Refsum disease ISO RGD:736176 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12374067 CCND3 cyclin D3 gene DOID:10283 prostate cancer disease_progression ISO RGD:736176 D RGD:9068941 20200609 RGD PMID:18317945|REF_RGD_ID:2316009 12374067 CCND3 cyclin D3 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:736176 D RGD:9068941 20200609 RGD PMID:16482499|REF_RGD_ID:2316012 12374067 CCND3 cyclin D3 gene DOID:2893 cervix carcinoma ISO RGD:736176 D RGD:9068941 20200609 RGD PMID:14751136|REF_RGD_ID:2316013 12374067 CCND3 cyclin D3 gene DOID:3008 invasive ductal carcinoma severity ISO RGD:736176 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:11329139|REF_RGD_ID:2316016 12374067 CCND3 cyclin D3 gene DOID:3713 ovary adenocarcinoma disease_progression ISO RGD:736176 D RGD:9068941 20200609 RGD PMID:17885491|REF_RGD_ID:2316011 12374067 CCND3 cyclin D3 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:736176 D RGD:9068941 20200609 RGD PMID:18679818|REF_RGD_ID:2316007 12374067 CCND3 cyclin D3 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:736176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28671688 12374067 CCND3 cyclin D3 gene DOID:630 genetic disease ISO RGD:736176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374067 CCND3 cyclin D3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2293 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:18008145|REF_RGD_ID:2316019 12374067 CCND3 cyclin D3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2293 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mammary gland PMID:16311245|REF_RGD_ID:2316020 12374067 CCND3 cyclin D3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733443 D RGD:9068941 20200609 RGD PMID:12853979|REF_RGD_ID:2316015 12374067 CCND3 cyclin D3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2293 D RGD:9068941 20200609 RGD protein:increased expression:kidney, glomerulus PMID:19276076|REF_RGD_ID:2316018 12374067 CCND3 cyclin D3 gene DOID:9008939 Breast Neoplasms ISO RGD:736176 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-677C>T (human) PMID:19142864|REF_RGD_ID:2316005 12374067 CCND3 cyclin D3 gene DOID:905 Zellweger syndrome ISO RGD:736176 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12374067 CCND3 cyclin D3 gene DOID:9538 multiple myeloma ISO RGD:736176 D RGD:9068941 20200609 RGD PMID:15755896|REF_RGD_ID:1581171 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:0001816 angiosarcoma ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:0050860 colorectal adenoma ISO RGD:734356 D RGD:9068941 20200609 RGD PMID:8264230|REF_RGD_ID:13210753 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:0050861 colorectal adenocarcinoma ISO RGD:734356 D RGD:9068941 20200609 RGD PMID:8264230|REF_RGD_ID:13210753 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:734356 D RGD:9068941 20220825 RGD mRNA,protein:increased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:0050866 oral squamous cell carcinoma ISO RGD:734356 D RGD:9068941 20220826 RGD mRNA, protein:increased expression:mouth (human) PMID:34111459|REF_RGD_ID:153344573 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:0080600 COVID-19 ISO RGD:734356 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:10286 prostate carcinoma ISO RGD:734356 D RGD:9068941 20200609 RGD protein:increased activation:tumor:nuclear localization in 13/16 (81.25%) of BPH and 31/36 (86.1%) of adenocarcinomas (PCa) with significantly stronger staining in PCa (P=0.006) PMID:16413376|REF_RGD_ID:2290480 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:10325 silicosis ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27621875 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:10763 hypertension ISO RGD:2943 D RGD:9068941 20200609 RGD PMID:11358932|REF_RGD_ID:10047414 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:10763 hypertension ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039778 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:13533 osteopetrosis ISO RGD:10828 D RGD:9068941 20200609 RGD PMID:15314684|REF_RGD_ID:1549450 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:13619 extrahepatic cholestasis ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:1596 depressive disorder ISO RGD:2943 D RGD:9068941 20200609 RGD protein:increased expression:basolateral amygdala PMID:10719210|REF_RGD_ID:2290593 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:1612 breast cancer ISO RGD:734356 D RGD:9068941 20200609 RGD protein:increased activation:tumor: 50% of cases showed activated protein present in mitotic cells at the invasive front, associated with tumor cell proliferation and microvessel density PMID:16733206|REF_RGD_ID:2290479 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:1686 glaucoma ISO RGD:734356 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (human) PMID:28990066|REF_RGD_ID:155630605 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:1824 status epilepticus ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7984056 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:2316 brain ischemia ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17901229 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:734356 D RGD:9068941 20200609 RGD protein:increased expression, increased activation:significantly higher levels in invading vs organ-confined specimens (P<0.001) PMID:9748134|REF_RGD_ID:2290484 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:2870 endometrial adenocarcinoma no_association ISO RGD:734356 D RGD:9068941 20200609 RGD protein, mRNA::endometrial epithelium and stroma:no correlation between expression and type of tissue or cancer stage or grade PMID:10684716|REF_RGD_ID:2290482 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:734356 D RGD:9068941 20200609 RGD protein:increased expression:tumor:positive correlation between expression and tumor grade (P=0.027) PMID:15800680|REF_RGD_ID:2290481 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:2957 pulmonary tuberculosis ISO RGD:734356 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:macrophage, nucleus PMID:19737230|REF_RGD_ID:4889999 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:10828 D RGD:9068941 20221117 RGD mRNA, protein:increased expression:lung (mouse) PMID:34331613|REF_RGD_ID:155663371 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:3347 osteosarcoma ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645001 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:4450 renal cell carcinoma ISO RGD:734356 D RGD:9068941 20200609 RGD protein:increased activation:tumor:associated with early carcinogenesis--10/18 (55.5%) of pT1a cases vs 11/44 (25%) of pT1b or greater cases PMID:16006965|REF_RGD_ID:1549443 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:4451 renal carcinoma ISO RGD:2943 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:9405228|REF_RGD_ID:2293758 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:574 peripheral nervous system disease ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17686523 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:630 genetic disease ISO RGD:734356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:676 juvenile rheumatoid arthritis ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:684 hepatocellular carcinoma ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20214788 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:8567 Hodgkin's lymphoma ISO RGD:734356 D RGD:9068941 20200609 RGD PMID:12145210|REF_RGD_ID:1549449 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9000039 Spinal Cord Injuries ISO RGD:2943 D RGD:9068941 20200609 RGD protein:increased phosphorylation:neuron PMID:21132399|REF_RGD_ID:4889994 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9000217 Stomach Neoplasms ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17355264 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9000998 Brain Injuries ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9001041 Asphyxia ISO RGD:10828 D RGD:9068941 20200609 RGD PMID:18620825|REF_RGD_ID:4890002 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9001472 Nasal Polyps ISO RGD:734356 D RGD:9068941 20200609 RGD mRNA:decreased expression:nasal cavity epithelium PMID:19158123|REF_RGD_ID:4890001 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9001642 Intestinal Polyps ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12584176 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9002304 Prostatic Neoplasms ISO RGD:734356 D RGD:9068941 20200609 RGD protein:increased expression:malignant tissues PMID:17634427|REF_RGD_ID:2290478 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:734356 D RGD:9068941 20200609 RGD Jun interacts with androgen receptor and ETV1 to mediate invasion PMID:17634427|REF_RGD_ID:2290478 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9002928 Colonic Neoplasms ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12628520|PMID:18283038 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9004009 Reperfusion Injury ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7922267 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9004649 Heat Stroke ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9004871 Mercury Poisoning, Nervous System ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15515958 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9005172 Lung Neoplasms ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20716630 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9007188 Liver Neoplasms ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12127263|PMID:24183702 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21726611|PMID:8777434 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9008091 Optic Nerve Injuries ISO RGD:2943 D RGD:9068941 20200609 RGD PMID:10366744|REF_RGD_ID:10047417 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9008939 Breast Neoplasms ISO RGD:734356 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast neoplasm 12374086 JUN Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9675 pulmonary emphysema ISO RGD:10828 D RGD:9068941 20220825 MouseDO OMIM:130700 12374091 SMIM7 small integral membrane protein 7 gene DOID:630 genetic disease ISO RGD:1601966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374102 CACNG1 calcium voltage-gated channel auxiliary subunit gamma 1 gene DOID:630 genetic disease ISO RGD:732630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374102 CACNG1 calcium voltage-gated channel auxiliary subunit gamma 1 gene DOID:8545 malignant hyperthermia ISO RGD:732630 D RGD:9068941 20200609 RGD PMID:8395940|REF_RGD_ID:734675 12374110 WDR81 WD repeat domain 81 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1606736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 12374110 WDR81 WD repeat domain 81 gene DOID:0112234 microlissencephaly ISO RGD:1606736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microlissencephaly 12374110 WDR81 WD repeat domain 81 gene DOID:1059 intellectual disability ISO RGD:1606736 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:16371500|PMID:21885617|PMID:25741868 12374110 WDR81 WD repeat domain 81 gene DOID:10907 microcephaly ISO RGD:1606736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:32581362 12374110 WDR81 WD repeat domain 81 gene DOID:630 genetic disease ISO RGD:1606736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26437881|PMID:28097321|PMID:28492532|PMID:28940097|PMID:30560021|PMID:31363758|PMID:31785789 12374110 WDR81 WD repeat domain 81 gene DOID:9006893 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 ISO RGD:1606736 D RGD:7240710 20180130 OMIM 12374110 WDR81 WD repeat domain 81 gene DOID:9006893 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 ISO RGD:1606736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 2 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 PMID:16371500|PMID:21885617|PMID:25741868|PMID:26437881|PMID:28097321|PMID:28492532|PMID:28940097|PMID:28969387 12374110 WDR81 WD repeat domain 81 gene DOID:9008539 Perinatal Death ISO RGD:1606736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal death PMID:25558065|PMID:25741868|PMID:28556411 12374110 WDR81 WD repeat domain 81 gene DOID:9009189 Congenital Hydrocephalus 3, with Brain Anomalies ISO RGD:1606736 D RGD:7240710 20190315 OMIM 12374110 WDR81 WD repeat domain 81 gene DOID:9009189 Congenital Hydrocephalus 3, with Brain Anomalies ISO RGD:1606736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Hydrocephalus, congenital, 3, with brain anomalies PMID:16371500|PMID:21885617|PMID:25558065|PMID:25741868|PMID:28492532|PMID:28556411|PMID:30560021|PMID:31363758 12374124 TSEN34 tRNA splicing endonuclease subunit 34 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1348893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:18414213|PMID:25741868|PMID:28492532 12374124 TSEN34 tRNA splicing endonuclease subunit 34 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1348893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:18414213|PMID:25741868|PMID:28492532 12374124 TSEN34 tRNA splicing endonuclease subunit 34 gene DOID:0060269 pontocerebellar hypoplasia type 2C ISO RGD:1348893 D RGD:7240710 20180130 OMIM 12374124 TSEN34 tRNA splicing endonuclease subunit 34 gene DOID:0060269 pontocerebellar hypoplasia type 2C ISO RGD:1348893 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2C PMID:18414213|PMID:18711368|PMID:20301773|PMID:25741868|PMID:28492532 12374124 TSEN34 tRNA splicing endonuclease subunit 34 gene DOID:0081219 autosomal recessive intellectual developmental disorder 57 ISO RGD:1348893 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 57 PMID:25741868 12374124 TSEN34 tRNA splicing endonuclease subunit 34 gene DOID:1059 intellectual disability ISO RGD:1348893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 12374124 TSEN34 tRNA splicing endonuclease subunit 34 gene DOID:10907 microcephaly ISO RGD:1348893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 12374124 TSEN34 tRNA splicing endonuclease subunit 34 gene DOID:480 movement disease ISO RGD:1348893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 12374124 TSEN34 tRNA splicing endonuclease subunit 34 gene DOID:630 genetic disease ISO RGD:1348893 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12374124 TSEN34 tRNA splicing endonuclease subunit 34 gene DOID:9000123 Deglutition Disorders ISO RGD:1348893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 12374124 TSEN34 tRNA splicing endonuclease subunit 34 gene DOID:9000343 Vision Disorders ISO RGD:1348893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 12374133 NDUFA3 NADH:ubiquinone oxidoreductase subunit A3 gene DOID:630 genetic disease ISO RGD:1323447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374141 APCDD1L APC down-regulated 1 like gene DOID:630 genetic disease ISO RGD:1605849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374149 TMEM33 transmembrane protein 33 gene DOID:630 genetic disease ISO RGD:1353146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374161 IL9 interleukin 9 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735276 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12374161 IL9 interleukin 9 gene DOID:0080600 COVID-19 severity ISO RGD:735276 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 12374161 IL9 interleukin 9 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735276 D RGD:9068941 20200609 RGD associated with Influenza;protein:increased expression:serum PMID:21062445|REF_RGD_ID:5128683 12374161 IL9 interleukin 9 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1620109 D RGD:9068941 20200609 RGD PMID:19915054|REF_RGD_ID:5128685 12374161 IL9 interleukin 9 gene DOID:1273 respiratory syncytial virus infectious disease susceptibility ISO RGD:735276 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2069885, rs1799962 (human) PMID:20503287|REF_RGD_ID:5128684 12374161 IL9 interleukin 9 gene DOID:1485 cystic fibrosis ISO RGD:735276 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system mucosa PMID:12782818|REF_RGD_ID:5128699 12374161 IL9 interleukin 9 gene DOID:2048 autoimmune hepatitis ISO RGD:735276 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 12374161 IL9 interleukin 9 gene DOID:2841 asthma ISO RGD:1620109 D RGD:9068941 20200609 RGD PMID:12153980|PMID:17446528|REF_RGD_ID:5128686|REF_RGD_ID:5128700 12374161 IL9 interleukin 9 gene DOID:2841 asthma ISO RGD:1620109 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:15531759|REF_RGD_ID:5128690 12374161 IL9 interleukin 9 gene DOID:2841 asthma ISO RGD:735276 D RGD:9068941 20200609 RGD PMID:21356110|REF_RGD_ID:5128707 12374161 IL9 interleukin 9 gene DOID:2841 asthma ISO RGD:735276 D RGD:9068941 20200609 RGD protein:increased expression:sputum, macrophage, cytoplasm PMID:15303135|REF_RGD_ID:5128691 12374161 IL9 interleukin 9 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735276 D RGD:9068941 20200609 RGD protein:increased expression:sputum, macrophage, cytoplasm PMID:15303135|REF_RGD_ID:5128691 12374161 IL9 interleukin 9 gene DOID:3770 pulmonary fibrosis ISO RGD:1620109 D RGD:9068941 20200609 RGD associated with Silicosis PMID:11306428|REF_RGD_ID:5128702 12374161 IL9 interleukin 9 gene DOID:4483 rhinitis ISO RGD:735276 D RGD:9068941 20200609 RGD PMID:20525149|REF_RGD_ID:5128687 12374161 IL9 interleukin 9 gene DOID:630 genetic disease ISO RGD:735276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374161 IL9 interleukin 9 gene DOID:850 lung disease ISO RGD:1620109 D RGD:9068941 20200609 RGD Lung Injury PMID:15632004|REF_RGD_ID:5128689 12374161 IL9 interleukin 9 gene DOID:9001472 Nasal Polyps ISO RGD:735276 D RGD:9068941 20200609 RGD associated with Bronchial Hyperreactivity PMID:15007348|REF_RGD_ID:5128694 12374161 IL9 interleukin 9 gene DOID:9002221 Hyperplasia ISO RGD:735276 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19342650 12374161 IL9 interleukin 9 gene DOID:9003281 Spontaneous Abortions ISO RGD:735276 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12374161 IL9 interleukin 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12374161 IL9 interleukin 9 gene DOID:9005700 Airway Obstruction ISO RGD:735276 D RGD:9068941 20200609 RGD associated with Bronchitis, Chronic;mRNA:increased expression:respiratory system fluid/secretion, T cell PMID:14605067|REF_RGD_ID:5128696 12374161 IL9 interleukin 9 gene DOID:9006928 Viral Bronchiolitis ISO RGD:735276 D RGD:9068941 20200609 RGD PMID:15051283|REF_RGD_ID:5128692 12374161 IL9 interleukin 9 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735276 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12374169 SHFL shiftless antiviral inhibitor of ribosomal frameshifting gene DOID:0070158 hereditary sensory neuropathy type 1E ISO RGD:1605065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA PMID:28492532 12374169 SHFL shiftless antiviral inhibitor of ribosomal frameshifting gene DOID:630 genetic disease ISO RGD:1605065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374190 HHIP hedgehog interacting protein gene DOID:10892 hypospadias ISO RGD:1354359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31568847 12374190 HHIP hedgehog interacting protein gene DOID:12236 primary biliary cholangitis ISO RGD:1564108 D RGD:9068941 20200609 RGD mRNA:decreased expression: PMID:18375471|REF_RGD_ID:11552599 12374190 HHIP hedgehog interacting protein gene DOID:2513 basal cell carcinoma ISO RGD:1557623 D RGD:9068941 20200609 RGD mRNA:increased expression:skin: PMID:15024045|REF_RGD_ID:11552592 12374190 HHIP hedgehog interacting protein gene DOID:2513 basal cell carcinoma treatment ISO RGD:1557623 D RGD:9068941 20200609 RGD PMID:15024045|REF_RGD_ID:11552592 12374190 HHIP hedgehog interacting protein gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1354359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease, biomass related 12374190 HHIP hedgehog interacting protein gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1354359 D RGD:9068941 20200609 RGD DNA:SNP: :rs13118928(human) PMID:19996190|REF_RGD_ID:11552598 12374190 HHIP hedgehog interacting protein gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1354359 D RGD:9068941 20200609 RGD DNA:SNPs: :rs11100865, rs7654947(human) PMID:25928290|REF_RGD_ID:11552597 12374190 HHIP hedgehog interacting protein gene DOID:5082 liver cirrhosis ISO RGD:1557623 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:19815628|REF_RGD_ID:11552602 12374190 HHIP hedgehog interacting protein gene DOID:630 genetic disease ISO RGD:1354359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374190 HHIP hedgehog interacting protein gene DOID:684 hepatocellular carcinoma ISO RGD:1354359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18559595 12374190 HHIP hedgehog interacting protein gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:1564108 D RGD:9068941 20200609 RGD PMID:19515211|REF_RGD_ID:11552601 12374190 HHIP hedgehog interacting protein gene DOID:9008443 Colorectal Neoplasms ISO RGD:1354359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 12374190 HHIP hedgehog interacting protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12374190 HHIP hedgehog interacting protein gene DOID:9675 pulmonary emphysema ISO RGD:1557623 D RGD:9068941 20200609 RGD DNA:haplotype insufficiency: : PMID:25763110|REF_RGD_ID:11552596 12374190 HHIP hedgehog interacting protein gene DOID:9743 diabetic neuropathy ISO RGD:1564108 D RGD:9068941 20200609 RGD PMID:19515211|REF_RGD_ID:11552601 12374207 PDRG1 p53 and DNA damage regulated 1 gene DOID:630 genetic disease ISO RGD:1349373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374207 PDRG1 p53 and DNA damage regulated 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1349373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12374217 MIR190A microRNA mir-190a gene DOID:13580 cholestasis ISO RGD:1347802 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12374217 MIR190A microRNA mir-190a gene DOID:2043 hepatitis B ISO RGD:1347802 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12374217 MIR190A microRNA mir-190a gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1347802 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21750348 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:0060041 autism spectrum disorder ISO RGD:11070 D RGD:9068941 20220825 MouseDO 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:0060230 basal ganglia calcification ISO RGD:11070 D RGD:9068941 20220825 MouseDO OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:0080109 infantile myofibromatosis ISO RGD:732897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FIBROMATOSIS, CONGENITAL GENERALIZED | ClinVar Annotator: match by term: Infantile myofibromatosis | ClinVar Annotator: match by term: Myofibromatosis, juvenile PMID:12181311|PMID:15054839|PMID:16199547|PMID:17576681|PMID:23731537|PMID:23731542|PMID:25292412|PMID:25741868|PMID:26455322|PMID:28166811|PMID:28183292|PMID:28334876|PMID:28492532|PMID:28639748|PMID:30941910|PMID:31004414|PMID:31017643|PMID:31474318|PMID:9536098 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732897 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:0080855 Parkinsonism ISO RGD:732897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:25741868 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:0111344 myeloproliferative disorder with eosinophilia ISO RGD:732897 D RGD:7240710 20180130 OMIM 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:0111344 myeloproliferative disorder with eosinophilia ISO RGD:732897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EOSINOPHILS, MALIGNANT PROLIFERATION OF | ClinVar Annotator: match by term: Myeloproliferative disorder, chronic, with eosinophilia PMID:25454926|PMID:25741868|PMID:26455322|PMID:28492532 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:10283 prostate cancer ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:17854058|REF_RGD_ID:2292228 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:10763 hypertension ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:1657776|REF_RGD_ID:11080972 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:10763 hypertension ISO RGD:3285 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:glomerulus PMID:12047046|REF_RGD_ID:2292214 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:732897 D RGD:9068941 20200609 RGD PMID:22773904|REF_RGD_ID:10053644 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:10907 microcephaly ISO RGD:732897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:10908 hydrocephalus ISO RGD:732897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:12181311|PMID:25292412|PMID:25741868|PMID:28334876|PMID:28639748|PMID:30941910|PMID:31004414|PMID:31474318 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:11446 sciatic neuropathy ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:19909480|REF_RGD_ID:11080976 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:12215 oligohydramnios ISO RGD:3285 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17519529|REF_RGD_ID:2292203 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:13619 extrahepatic cholestasis treatment ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:18466260|REF_RGD_ID:10449503 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:1612 breast cancer ISO RGD:732897 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17390053|REF_RGD_ID:2292174 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:182 calcinosis ISO RGD:732897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:1936 atherosclerosis treatment ISO RGD:11070 D RGD:9068941 20200609 RGD PMID:11413086|REF_RGD_ID:10449506 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:1969 cerebral palsy ISO RGD:732897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:24796542|PMID:25741868|PMID:31064749 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:2226 myeloproliferative neoplasm ISO RGD:11070 D RGD:9068941 20220825 MouseDO 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:2226 myeloproliferative neoplasm ISO RGD:732897 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:12181402|REF_RGD_ID:10450606 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:2696 Leydig cell tumor ISO RGD:732897 D RGD:9068941 20200609 RGD protein:increased expression:testis, leydig cell PMID:11994382|REF_RGD_ID:2298579 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:2785 Dandy-Walker syndrome ISO RGD:732897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dandy-Walker malformation PMID:12181311|PMID:25292412|PMID:25741868|PMID:28334876|PMID:28639748|PMID:30941910|PMID:31004414|PMID:31474318 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:3068 glioblastoma treatment ISO RGD:732897 D RGD:9068941 20200609 RGD PMID:24566984|REF_RGD_ID:13702903 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:3459 breast carcinoma disease_progression ISO RGD:732897 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:16741576|REF_RGD_ID:2292178 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:16917016|REF_RGD_ID:11084934 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:3594 choriocarcinoma ISO RGD:732897 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cytotrophoblast cell PMID:8504434|REF_RGD_ID:2292200 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:4450 renal cell carcinoma ISO RGD:732897 D RGD:9068941 20200609 RGD PMID:15994946|REF_RGD_ID:2292198 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:4450 renal cell carcinoma ISO RGD:732897 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:16865223|REF_RGD_ID:2290496 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:5419 schizophrenia ISO RGD:11070 D RGD:9068941 20220825 MouseDO OMIM:181500 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:630 genetic disease ISO RGD:732897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12181311|PMID:25292412|PMID:25356970|PMID:25741868|PMID:28166811|PMID:28334876|PMID:28492532|PMID:28639748|PMID:30941910|PMID:31004414|PMID:31474318 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:679 basal ganglia disease ISO RGD:732897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:8946 severe nonproliferative diabetic retinopathy ISO RGD:11070 D RGD:9068941 20220825 MouseDO 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9000099 Experimental Colitis treatment ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:24115822|REF_RGD_ID:11080973 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9000438 Subarachnoid Hemorrhage ameliorates ISO RGD:3285 D RGD:9068941 20210402 RGD PMID:29480757|REF_RGD_ID:125093745 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9000858 Idiopathic Basal Ganglia Calcification 4 ISO RGD:732897 D RGD:7240710 20180130 OMIM 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9000858 Idiopathic Basal Ganglia Calcification 4 ISO RGD:732897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 4 PMID:15054839|PMID:16199547|PMID:17576681|PMID:20301594|PMID:23255827|PMID:23731537|PMID:23731542|PMID:24796542|PMID:25741868|PMID:26455322|PMID:28166811|PMID:28183292|PMID:28334876|PMID:28492532|PMID:31064749|PMID:9536098 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9000965 Neoplasm Metastasis ISO RGD:732897 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell PMID:15994946|REF_RGD_ID:2292198 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9000965 Neoplasm Metastasis ISO RGD:732897 D RGD:9068941 20200609 RGD mRNA,protein:increased expression: : PMID:14593398|REF_RGD_ID:13703041 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9000998 Brain Injuries ISO RGD:3285 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex, hippocampus PMID:9645955|REF_RGD_ID:11084932 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:15077122|REF_RGD_ID:2292206 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15623374|PMID:18466260 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:18466260|REF_RGD_ID:10449503 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9001600 Wounds and Injuries ISO RGD:3285 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:12533868|REF_RGD_ID:2292211 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:11889420|REF_RGD_ID:11080974 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9002165 Diabetic Nephropathies ISO RGD:732897 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent PMID:15067514|REF_RGD_ID:2311646 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9002509 Kosaki Overgrowth Syndrome ISO RGD:732897 D RGD:7240710 20180130 OMIM 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9002509 Kosaki Overgrowth Syndrome ISO RGD:732897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kosaki overgrowth syndrome | ClinVar Annotator: match by term: SKELETAL OVERGROWTH WITH FACIAL DYSMORPHISM, HYPERELASTIC SKIN, WHITE MATTER LESIONS, AND NEUROLOGIC DETERIORATION PMID:12181311|PMID:15054839|PMID:16199547|PMID:17576681|PMID:23731537|PMID:23731542|PMID:25292412|PMID:25454926|PMID:25741868|PMID:26455322|PMID:28166811|PMID:28183292|PMID:28334876|PMID:28492532|PMID:28639748|PMID:30941910|PMID:31004414|PMID:31474318|PMID:9536098 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9002514 Neointima treatment ISO RGD:3285 D RGD:9068941 20200609 RGD associated with Carotid Artery Injuries PMID:9323080|REF_RGD_ID:11087557 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9002762 Ovarian Neoplasms ISO RGD:732897 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:15791568|REF_RGD_ID:2298578 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:16042218|REF_RGD_ID:11080975 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9002928 Colonic Neoplasms ISO RGD:11070 D RGD:9068941 20200609 RGD PMID:17050049|REF_RGD_ID:2292176 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9003936 Cardiomegaly ISO RGD:3285 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:heart PMID:11973598|REF_RGD_ID:2292215 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9004241 Infantile Myofibromatosis 1 ISO RGD:732897 D RGD:7240710 20180130 OMIM 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9004241 Infantile Myofibromatosis 1 ISO RGD:732897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myofibromatosis, infantile, 1 PMID:12181311|PMID:15054839|PMID:23731537|PMID:23731542|PMID:25292412|PMID:25741868|PMID:26455322|PMID:28183292|PMID:28334876|PMID:28492532|PMID:28639748|PMID:30941910|PMID:31004414|PMID:31474318 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9004265 Endometrioid Carcinomas ISO RGD:732897 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:15791568|REF_RGD_ID:2298578 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9004283 Transplant Rejection ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:10458478|REF_RGD_ID:1625382 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9004860 Penttinen-Aula Syndrome ISO RGD:732897 D RGD:7240710 20180130 OMIM 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9004860 Penttinen-Aula Syndrome ISO RGD:732897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PENTTINEN SYNDROME | ClinVar Annotator: match by term: Premature aging syndrome, Penttinen type PMID:15054839|PMID:16199547|PMID:17576681|PMID:23720404|PMID:23731537|PMID:23731542|PMID:25741868|PMID:26279204|PMID:26455322|PMID:28166811|PMID:28183292|PMID:28334876|PMID:28492532|PMID:31017643|PMID:9056558|PMID:9536098 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9005147 Hydatidiform Mole ISO RGD:732897 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cytotrophoblast cell PMID:8504434|REF_RGD_ID:2292200 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9005172 Lung Neoplasms ISO RGD:11070 D RGD:9068941 20200609 RGD PMID:17050049|REF_RGD_ID:2292176 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9005396 Intimal Hyperplasia treatment ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:10982551|REF_RGD_ID:10449504 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3285 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus PMID:10802145|REF_RGD_ID:2311654 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:12819032|REF_RGD_ID:1580850 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3285 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:10550325|REF_RGD_ID:8554477 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732897 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9007480 Hyperoxia ISO RGD:3285 D RGD:9068941 20200609 RGD protein:increased expression:vascular associated smooth muscle cell PMID:15722379|REF_RGD_ID:1580851 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:732897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 3 PMID:25741868|PMID:28492532 12374301 PDGFRB platelet derived growth factor receptor beta gene DOID:9008939 Breast Neoplasms ISO RGD:11070 D RGD:9068941 20200609 RGD PMID:17050049|REF_RGD_ID:2292176 12374340 WASHC5 WASH complex subunit 5 gene DOID:0060565 Ritscher-Schinzel syndrome ISO RGD:1605096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12374340 WASHC5 WASH complex subunit 5 gene DOID:0060571 Ritscher-Schinzel syndrome 1 ISO RGD:1605096 D RGD:7240710 20181010 OMIM 12374340 WASHC5 WASH complex subunit 5 gene DOID:0060571 Ritscher-Schinzel syndrome 1 ISO RGD:1605096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 PMID:24065355|PMID:24824269|PMID:25741868|PMID:26467025|PMID:27957547|PMID:28492532|PMID:31971710|PMID:7604842 12374340 WASHC5 WASH complex subunit 5 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1605096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant 12374340 WASHC5 WASH complex subunit 5 gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:1605096 D RGD:7240710 20180130 OMIM 12374340 WASHC5 WASH complex subunit 5 gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:1605096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:10797436|PMID:16199547|PMID:17160902|PMID:17576681|PMID:20301727|PMID:20833645|PMID:23455931|PMID:23881105|PMID:24065355|PMID:24123792|PMID:24451228|PMID:24759409|PMID:24824269|PMID:25741868|PMID:26467025|PMID:27957547|PMID:28492532|PMID:30564185|PMID:30778698|PMID:30896870|PMID:31227335|PMID:31814071|PMID:9536098 12374340 WASHC5 WASH complex subunit 5 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1605096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12374340 WASHC5 WASH complex subunit 5 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605096 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:17160902|PMID:25741868|PMID:26467025|PMID:28492532 12374340 WASHC5 WASH complex subunit 5 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17160902|PMID:20301727|PMID:25741868|PMID:26467025|PMID:27957547|PMID:28492532|PMID:30896870|PMID:31227335 12374340 WASHC5 WASH complex subunit 5 gene DOID:607 paraplegia ISO RGD:1605096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 12374340 WASHC5 WASH complex subunit 5 gene DOID:630 genetic disease ISO RGD:1605096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30564185|PMID:31814071 12374340 WASHC5 WASH complex subunit 5 gene DOID:9005532 Muscle Weakness ISO RGD:1605096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868|PMID:28492532 12374340 WASHC5 WASH complex subunit 5 gene DOID:9007428 Muscle Spasticity ISO RGD:1605096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spasticity PMID:17576681|PMID:28492532|PMID:9536098 12374375 NEIL3 nei like DNA glycosylase 3 gene DOID:630 genetic disease ISO RGD:1352319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374375 NEIL3 nei like DNA glycosylase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1352319 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12374375 NEIL3 nei like DNA glycosylase 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352319 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 12374375 NEIL3 nei like DNA glycosylase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12374412 ANXA5 annexin A5 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:734268 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:17999093|REF_RGD_ID:7242031 12374412 ANXA5 annexin A5 gene DOID:0080600 COVID-19 ISO RGD:734268 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12374412 ANXA5 annexin A5 gene DOID:10591 pre-eclampsia ISO RGD:734268 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19837457 12374412 ANXA5 annexin A5 gene DOID:10652 Alzheimer's disease ISO RGD:734268 D RGD:9068941 20200609 RGD protein:increased expression: plasma PMID:20648654|REF_RGD_ID:7242030 12374412 ANXA5 annexin A5 gene DOID:10652 Alzheimer's disease ISO RGD:734269 D RGD:9068941 20200609 RGD protein:increased expression:brain, plasma PMID:20648654|REF_RGD_ID:7242030 12374412 ANXA5 annexin A5 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:734268 D RGD:9068941 20200609 RGD mRNA:increased expression:white blood cell: PMID:19684010|REF_RGD_ID:6478714 12374412 ANXA5 annexin A5 gene DOID:11383 cryptorchidism ISO RGD:2120 D RGD:9068941 20200609 RGD protein:increased expression: seminiferous tubulle PMID:19376566|REF_RGD_ID:10053693 12374412 ANXA5 annexin A5 gene DOID:12217 Lewy body dementia ISO RGD:734268 D RGD:9068941 20200609 RGD protein:increased expression: plasma PMID:23576984|REF_RGD_ID:10053729 12374412 ANXA5 annexin A5 gene DOID:14330 Parkinson's disease ISO RGD:734268 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid: PMID:10584677|REF_RGD_ID:10053728 12374412 ANXA5 annexin A5 gene DOID:1459 hypothyroidism ISO RGD:2120 D RGD:9068941 20200609 RGD protein:increased expression:thyroid gland: PMID:9022675|REF_RGD_ID:2306952 12374412 ANXA5 annexin A5 gene DOID:1749 squamous cell carcinoma ISO RGD:734268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12374412 ANXA5 annexin A5 gene DOID:2921 glomerulonephritis ISO RGD:2120 D RGD:9068941 20200609 RGD PMID:11271515|REF_RGD_ID:7241853 12374412 ANXA5 annexin A5 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:734268 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19488907|REF_RGD_ID:2317538 12374412 ANXA5 annexin A5 gene DOID:3910 lung adenocarcinoma ISO RGD:734268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 12374412 ANXA5 annexin A5 gene DOID:418 systemic scleroderma severity ISO RGD:734268 D RGD:9068941 20200609 RGD PMID:21124692|REF_RGD_ID:7242029 12374412 ANXA5 annexin A5 gene DOID:438 autoimmune disease of the nervous system ISO RGD:734268 D RGD:9068941 20200609 RGD PMID:15486486|REF_RGD_ID:10053691 12374412 ANXA5 annexin A5 gene DOID:5844 myocardial infarction ISO RGD:2120 D RGD:9068941 20200609 RGD protein:altered localization:cardiac muscle cell, sarcolemma PMID:16501019|REF_RGD_ID:2317541 12374412 ANXA5 annexin A5 gene DOID:5844 myocardial infarction ISO RGD:734268 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8814351|REF_RGD_ID:2317543 12374412 ANXA5 annexin A5 gene DOID:5844 myocardial infarction no_association ISO RGD:734268 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1C>T (human) PMID:16025836|REF_RGD_ID:1578384 12374412 ANXA5 annexin A5 gene DOID:5844 myocardial infarction susceptibility ISO RGD:734268 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1C>T (human) PMID:12200370|REF_RGD_ID:2317542 12374412 ANXA5 annexin A5 gene DOID:630 genetic disease ISO RGD:734268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374412 ANXA5 annexin A5 gene DOID:7998 hyperthyroidism ISO RGD:2120 D RGD:9068941 20200609 RGD protein:decreased expression:thyroid gland: PMID:9022675|REF_RGD_ID:2306952 12374412 ANXA5 annexin A5 gene DOID:893 Wilson disease ISO RGD:2120 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:21751376|REF_RGD_ID:10053726 12374412 ANXA5 annexin A5 gene DOID:893 Wilson disease ISO RGD:734268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751376 12374412 ANXA5 annexin A5 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2120 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:neuron,glial cell PMID:15248295|REF_RGD_ID:10053688 12374412 ANXA5 annexin A5 gene DOID:9000217 Stomach Neoplasms ISO RGD:734268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12374412 ANXA5 annexin A5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12374412 ANXA5 annexin A5 gene DOID:9002331 Knee Osteoarthritis disease_progression ISO RGD:734268 D RGD:9068941 20200609 RGD protein:increased expression:chondrocyte: PMID:10903884|REF_RGD_ID:10053727 12374412 ANXA5 annexin A5 gene DOID:9003936 Cardiomegaly ISO RGD:2120 D RGD:9068941 20200609 RGD mRNA:increased expression:heart: PMID:10603972|REF_RGD_ID:10053694 12374412 ANXA5 annexin A5 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:734268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 12374412 ANXA5 annexin A5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12374412 ANXA5 annexin A5 gene DOID:9004657 Weight Gain ISO RGD:734268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12374412 ANXA5 annexin A5 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:734268 D RGD:9068941 20200609 RGD PMID:21918686|REF_RGD_ID:7242028 12374412 ANXA5 annexin A5 gene DOID:9007102 Myocardial Ischemia ISO RGD:2120 D RGD:9068941 20200609 RGD PMID:8056721|REF_RGD_ID:7241858 12374412 ANXA5 annexin A5 gene DOID:9007364 Mouth Neoplasms ISO RGD:734268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12374412 ANXA5 annexin A5 gene DOID:9007479 Habitual Abortions ISO RGD:734268 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism 12374412 ANXA5 annexin A5 gene DOID:9007479 Habitual Abortions susceptibility ISO RGD:734268 D RGD:7240710 20230505 OMIM 12374412 ANXA5 annexin A5 gene DOID:9007820 Sudden Death no_association ISO RGD:734268 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1C>T (human) PMID:16025836|REF_RGD_ID:1578384 12374412 ANXA5 annexin A5 gene DOID:9119 acute myeloid leukemia ISO RGD:734268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12374429 FGF9 fibroblast growth factor 9 gene DOID:0050794 multiple synostoses syndrome ISO RGD:10579 D RGD:9068941 20220825 MouseDO OMIM:186500 | OMIM:610017 | OMIM:612961 12374429 FGF9 fibroblast growth factor 9 gene DOID:0081317 multiple synostoses syndrome 1 ISO RGD:735806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome 12374429 FGF9 fibroblast growth factor 9 gene DOID:0081319 multiple synostoses syndrome 3 ISO RGD:735806 D RGD:7240710 20180130 OMIM 12374429 FGF9 fibroblast growth factor 9 gene DOID:0081319 multiple synostoses syndrome 3 ISO RGD:735806 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Multiple synostoses syndrome 3 PMID:19589401|PMID:25741868|PMID:28492532|PMID:28730625|PMID:36980996 12374429 FGF9 fibroblast growth factor 9 gene DOID:1324 lung cancer ISO RGD:10579 D RGD:9068941 20220825 MouseDO OMIM:211980 | OMIM:608935 | OMIM:612571 | OMIM:612593 | OMIM:614210 12374429 FGF9 fibroblast growth factor 9 gene DOID:1790 malignant mesothelioma ISO RGD:735806 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12374429 FGF9 fibroblast growth factor 9 gene DOID:263 kidney cancer ameliorates ISO RGD:735806 D RGD:9068941 20220526 RGD human gene in mouse model PMID:26183774|REF_RGD_ID:152600905 12374429 FGF9 fibroblast growth factor 9 gene DOID:299 adenocarcinoma ISO RGD:735806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20464547 12374429 FGF9 fibroblast growth factor 9 gene DOID:3907 lung squamous cell carcinoma ISO RGD:735806 D RGD:9068941 20220520 RGD mRNA:decreased expression:lung (human) PMID:28440022|REF_RGD_ID:152180844 12374429 FGF9 fibroblast growth factor 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19358281 12374429 FGF9 fibroblast growth factor 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735806 D RGD:9068941 20220520 RGD mRNA:increased expression:lung (human) PMID:31884893|REF_RGD_ID:152177912 12374429 FGF9 fibroblast growth factor 9 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:735806 D RGD:9068941 20220519 RGD mRNA:increased expression:lung (human) PMID:24239165|REF_RGD_ID:152177524 12374429 FGF9 fibroblast growth factor 9 gene DOID:3910 lung adenocarcinoma ISO RGD:735806 D RGD:9068941 20220519 RGD protein:increased expression:lung (human) PMID:19358281|REF_RGD_ID:152177688 12374429 FGF9 fibroblast growth factor 9 gene DOID:3910 lung adenocarcinoma ISO RGD:735806 D RGD:9068941 20220520 RGD mRNA:decreased expression:lung (human) PMID:19296538|REF_RGD_ID:150429981 12374429 FGF9 fibroblast growth factor 9 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:735806 D RGD:9068941 20220526 RGD protein:increased expression:lung (human) PMID:20464547|REF_RGD_ID:152975620 12374429 FGF9 fibroblast growth factor 9 gene DOID:4769 pleuropulmonary blastoma ISO RGD:10579 D RGD:9068941 20220825 MouseDO OMIM:601200 12374429 FGF9 fibroblast growth factor 9 gene DOID:630 genetic disease ISO RGD:735806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374429 FGF9 fibroblast growth factor 9 gene DOID:674 cleft palate ISO RGD:735806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 12374429 FGF9 fibroblast growth factor 9 gene DOID:9005172 Lung Neoplasms ISO RGD:735806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20464547 12374429 FGF9 fibroblast growth factor 9 gene DOID:9296 cleft lip ISO RGD:735806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 12374436 TACC3 transforming acidic coiled-coil containing protein 3 gene DOID:11054 urinary bladder cancer ISO RGD:1353438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121792 12374436 TACC3 transforming acidic coiled-coil containing protein 3 gene DOID:1856 cherubism ISO RGD:1353438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12374436 TACC3 transforming acidic coiled-coil containing protein 3 gene DOID:2671 transitional cell carcinoma ISO RGD:1353438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121792 12374436 TACC3 transforming acidic coiled-coil containing protein 3 gene DOID:2871 endometrial carcinoma ISO RGD:1353438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 12374436 TACC3 transforming acidic coiled-coil containing protein 3 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1353438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12374436 TACC3 transforming acidic coiled-coil containing protein 3 gene DOID:630 genetic disease ISO RGD:1353438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374436 TACC3 transforming acidic coiled-coil containing protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1353438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12374453 CCNL2 cyclin L2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12374453 CCNL2 cyclin L2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1319329 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12374453 CCNL2 cyclin L2 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1319329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12374453 CCNL2 cyclin L2 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1319329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12374453 CCNL2 cyclin L2 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1319329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12374453 CCNL2 cyclin L2 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1319329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12374453 CCNL2 cyclin L2 gene DOID:0111934 immunodeficiency 38 ISO RGD:1319329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12374453 CCNL2 cyclin L2 gene DOID:0111935 immunodeficiency 16 ISO RGD:1319329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12374453 CCNL2 cyclin L2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12374453 CCNL2 cyclin L2 gene DOID:630 genetic disease ISO RGD:1319329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374453 CCNL2 cyclin L2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12374453 CCNL2 cyclin L2 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1319329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12374453 CCNL2 cyclin L2 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1319329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12374471 SLC50A1 solute carrier family 50 member 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1607017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12374471 SLC50A1 solute carrier family 50 member 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1607017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12374471 SLC50A1 solute carrier family 50 member 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1607017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12374471 SLC50A1 solute carrier family 50 member 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1607017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12374471 SLC50A1 solute carrier family 50 member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1607017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12374471 SLC50A1 solute carrier family 50 member 1 gene DOID:5812 MHC class II deficiency ISO RGD:1607017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12374471 SLC50A1 solute carrier family 50 member 1 gene DOID:630 genetic disease ISO RGD:1607017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374471 SLC50A1 solute carrier family 50 member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12374496 YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon gene DOID:0060432 chromosome 17p13.3 duplication syndrome ISO RGD:1350802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome PMID:21681106 12374496 YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon gene DOID:0060469 Miller-Dieker lissencephaly syndrome ISO RGD:62292 D RGD:9068941 20220825 MouseDO OMIM:247200 12374496 YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon gene DOID:0060480 left ventricular noncompaction ISO RGD:62292 D RGD:9068941 20220825 MouseDO OMIM:604169 12374496 YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon gene DOID:10487 Hirschsprung's disease ISO RGD:1350802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 12374496 YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350802 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 12374516 LMF2 lipase maturation factor 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1606481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12374516 LMF2 lipase maturation factor 2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1606481 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12374516 LMF2 lipase maturation factor 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1606481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12374516 LMF2 lipase maturation factor 2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1606481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12374516 LMF2 lipase maturation factor 2 gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1606481 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 12374516 LMF2 lipase maturation factor 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1606481 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12374516 LMF2 lipase maturation factor 2 gene DOID:1059 intellectual disability ISO RGD:1606481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12374516 LMF2 lipase maturation factor 2 gene DOID:630 genetic disease ISO RGD:1606481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374537 ZNF790 zinc finger protein 790 gene DOID:630 genetic disease ISO RGD:1603835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374548 ZNF699 zinc finger protein 699 gene DOID:12849 autistic disorder ISO RGD:1605799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12374548 ZNF699 zinc finger protein 699 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1605799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:25741868 12374548 ZNF699 zinc finger protein 699 gene DOID:630 genetic disease ISO RGD:1605799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12374548 ZNF699 zinc finger protein 699 gene DOID:9005153 DEGCAGS SYNDROME ISO RGD:1605799 D RGD:7240710 20211020 OMIM 12374548 ZNF699 zinc finger protein 699 gene DOID:9005153 DEGCAGS SYNDROME ISO RGD:1605799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEGCAGS syndrome PMID:25741868|PMID:33875846 12374560 COL20A1 collagen type XX alpha 1 chain gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12374560 COL20A1 collagen type XX alpha 1 chain gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1602872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12374560 COL20A1 collagen type XX alpha 1 chain gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1602872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12374560 COL20A1 collagen type XX alpha 1 chain gene DOID:0081108 keratosis palmoplantaris striata 1 ISO RGD:1602872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma i, striate, focal, or diffuse PMID:29934816 12374560 COL20A1 collagen type XX alpha 1 chain gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1602872 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12374560 COL20A1 collagen type XX alpha 1 chain gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12374560 COL20A1 collagen type XX alpha 1 chain gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12374560 COL20A1 collagen type XX alpha 1 chain gene DOID:1826 epilepsy ISO RGD:1602872 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12374560 COL20A1 collagen type XX alpha 1 chain gene DOID:630 genetic disease ISO RGD:1602872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374598 MAB21L1 mab-21 like 1 gene DOID:12849 autistic disorder ISO RGD:1343203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12374598 MAB21L1 mab-21 like 1 gene DOID:630 genetic disease ISO RGD:1343203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374598 MAB21L1 mab-21 like 1 gene DOID:9008126 Cerebellar, Ocular, Craniofacial, and Genital Syndrome ISO RGD:1343203 D RGD:7240710 20190911 OMIM 12374598 MAB21L1 mab-21 like 1 gene DOID:9008126 Cerebellar, Ocular, Craniofacial, and Genital Syndrome ISO RGD:1343203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar, ocular, craniofacial, and genital syndrome PMID:23374822|PMID:27075597|PMID:27103078|PMID:30487245 12374603 ATP1B2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:0050753 cerebellar ataxia IAGP D RGD:12801476 20210603 OMIA Ataxia, cerebellar, ATP1B2-related PMID:28620085 12374603 ATP1B2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:0060041 autism spectrum disorder ISO RGD:736555 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12374603 ATP1B2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:736555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12374603 ATP1B2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:736555 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12374603 ATP1B2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:12177 common variable immunodeficiency ISO RGD:736555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12374603 ATP1B2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:736555 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 12374603 ATP1B2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:2729 dyskeratosis congenita ISO RGD:736555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12374603 ATP1B2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:736555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12374603 ATP1B2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:3070 high grade glioma ISO RGD:736555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16865689 12374603 ATP1B2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25129146 12374603 ATP1B2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:630 genetic disease ISO RGD:736555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374616 ADGRG4 adhesion G protein-coupled receptor G4 gene DOID:0060022 CD40 ligand deficiency ISO RGD:1346347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12374616 ADGRG4 adhesion G protein-coupled receptor G4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12374616 ADGRG4 adhesion G protein-coupled receptor G4 gene DOID:0060825 Christianson syndrome ISO RGD:1346347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12374616 ADGRG4 adhesion G protein-coupled receptor G4 gene DOID:12849 autistic disorder ISO RGD:1346347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12374616 ADGRG4 adhesion G protein-coupled receptor G4 gene DOID:630 genetic disease ISO RGD:1346347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374616 ADGRG4 adhesion G protein-coupled receptor G4 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1346347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12374616 ADGRG4 adhesion G protein-coupled receptor G4 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1346347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12374642 HASPIN histone H3 associated protein kinase gene DOID:3613 Canavan disease ISO RGD:1353091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:28492532|PMID:7668285 12374642 HASPIN histone H3 associated protein kinase gene DOID:630 genetic disease ISO RGD:1353091 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374647 RETN resistin gene DOID:0060180 colitis treatment ISO RGD:628781 D RGD:9068941 20200609 RGD PMID:22630819|REF_RGD_ID:7207222 12374647 RETN resistin gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1349693 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 12374647 RETN resistin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:628781 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20560816|REF_RGD_ID:7207249 12374647 RETN resistin gene DOID:0080490 mucolipidosis type IV ISO RGD:1349693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12374647 RETN resistin gene DOID:0080600 COVID-19 ISO RGD:1349693 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 12374647 RETN resistin gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1349693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 12374647 RETN resistin gene DOID:10763 hypertension ISO RGD:1349693 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:*62A>G (human) PMID:12629116|REF_RGD_ID:1624968 12374647 RETN resistin gene DOID:11054 urinary bladder cancer ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:18373357|REF_RGD_ID:7207154 12374647 RETN resistin gene DOID:114 heart disease ISO RGD:1349693 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic;protein:increased expression:serum PMID:15670203|REF_RGD_ID:7207157 12374647 RETN resistin gene DOID:11400 pyelonephritis ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20178460|REF_RGD_ID:7207160 12374647 RETN resistin gene DOID:11714 gestational diabetes ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19408175|REF_RGD_ID:2307186 12374647 RETN resistin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1349693 D RGD:9068941 20200609 RGD DNA, protein:SNP, increased expression:promoter, serum:-420G>C (rs1862513) (human) PMID:20171599|REF_RGD_ID:7207251 12374647 RETN resistin gene DOID:4676 uremia ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:adipose tissue PMID:23058473|REF_RGD_ID:7207071 12374647 RETN resistin gene DOID:5844 myocardial infarction ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18997620|REF_RGD_ID:7207152 12374647 RETN resistin gene DOID:6000 congestive heart failure ISO RGD:1349693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 12374647 RETN resistin gene DOID:6000 congestive heart failure ISO RGD:1349693 D RGD:9068941 20200609 RGD associated with Coronary Disease PMID:22240747|REF_RGD_ID:7207075 12374647 RETN resistin gene DOID:630 genetic disease ISO RGD:1349693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374647 RETN resistin gene DOID:783 end stage renal disease ISO RGD:1349693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19539174 12374647 RETN resistin gene DOID:783 end stage renal disease severity ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22421264|REF_RGD_ID:7207074 12374647 RETN resistin gene DOID:784 chronic kidney disease ISO RGD:1349693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22421264 12374647 RETN resistin gene DOID:8947 diabetic retinopathy ISO RGD:1349693 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:17303077|REF_RGD_ID:7207162 12374647 RETN resistin gene DOID:9000528 Coronary Disease ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:17175295|REF_RGD_ID:7207156 12374647 RETN resistin gene DOID:9001542 Albuminuria ISO RGD:1349693 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:blood PMID:20203628|REF_RGD_ID:7207150 12374647 RETN resistin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349693 D RGD:9068941 20200609 RGD PMID:21425555|REF_RGD_ID:7207159 12374647 RETN resistin gene DOID:9004484 Sepsis ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19545363|REF_RGD_ID:7207151 12374647 RETN resistin gene DOID:9006359 Vitamin D Deficiency ISO RGD:628781 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:21994008|REF_RGD_ID:7207230 12374647 RETN resistin gene DOID:9006646 Metabolic Syndrome ISO RGD:1349693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18328350 12374647 RETN resistin gene DOID:9006646 Metabolic Syndrome ISO RGD:1349693 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-420C>G (human) PMID:17598818|REF_RGD_ID:7207155 12374647 RETN resistin gene DOID:9007096 Stroke ISO RGD:1349693 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:promoter:-420G>C (rs1862513) (human) PMID:19269054|REF_RGD_ID:2313497 12374647 RETN resistin gene DOID:9007692 Insulin Resistance ISO RGD:1349693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16493877 12374647 RETN resistin gene DOID:9007692 Insulin Resistance ISO RGD:1349693 D RGD:9068941 20200609 RGD PMID:18789551|REF_RGD_ID:2313499 12374647 RETN resistin gene DOID:9074 systemic lupus erythematosus ISO RGD:1349693 D RGD:9068941 20200609 RGD PMID:21885493|REF_RGD_ID:7207148 12374647 RETN resistin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO PMID:11558907|PMID:12629116 12374647 RETN resistin gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1349693 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-394C>G, -420G>C (rs1862513) (human) PMID:19381781|REF_RGD_ID:2313495 12374647 RETN resistin gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1349693 D RGD:7240710 20230505 OMIM 12374647 RETN resistin gene DOID:9743 diabetic neuropathy ISO RGD:1349693 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:17919381|REF_RGD_ID:7207161 12374647 RETN resistin gene DOID:9744 type 1 diabetes mellitus ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:15523596|REF_RGD_ID:7207163 12374647 RETN resistin gene DOID:9970 obesity ISO RGD:1349693 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-420C>G (human) PMID:17598818|REF_RGD_ID:7207155 12374647 RETN resistin gene DOID:9970 obesity ISO RGD:1349693 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:subcutaneous adipose tissue, serum PMID:22816026|REF_RGD_ID:7207072 12374647 RETN resistin gene DOID:9970 obesity ISO RGD:730829 D RGD:9068941 20200609 RGD PMID:11201732|REF_RGD_ID:7207158 12374647 RETN resistin gene DOID:9976 heroin dependence ISO RGD:1349693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15717844 12374658 FEZ1 fasciculation and elongation protein zeta 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:732377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12374658 FEZ1 fasciculation and elongation protein zeta 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:732377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12374658 FEZ1 fasciculation and elongation protein zeta 1 gene DOID:14330 Parkinson's disease ISO RGD:619708 D RGD:9068941 20200609 RGD PMID:23888906|REF_RGD_ID:13208826 12374658 FEZ1 fasciculation and elongation protein zeta 1 gene DOID:5419 schizophrenia ISO RGD:732377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12374658 FEZ1 fasciculation and elongation protein zeta 1 gene DOID:630 genetic disease ISO RGD:732377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374658 FEZ1 fasciculation and elongation protein zeta 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:732377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12374658 FEZ1 fasciculation and elongation protein zeta 1 gene DOID:9007661 Dwarfism ISO RGD:732377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12374682 TMEM243 transmembrane protein 243 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12374682 TMEM243 transmembrane protein 243 gene DOID:630 genetic disease ISO RGD:1349104 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374693 CCDC169 coiled-coil domain containing 169 gene DOID:630 genetic disease ISO RGD:2302126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374709 CCDC92B coiled-coil domain containing 92B gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:10449362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:25741868 12374749 RAD50 RAD50 double strand break repair protein gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733899 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12374749 RAD50 RAD50 double strand break repair protein gene DOID:10283 prostate cancer ISO RGD:733899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 12374749 RAD50 RAD50 double strand break repair protein gene DOID:2394 ovarian cancer ISO RGD:733899 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:22216297|PMID:23555315|PMID:24894818|PMID:25151137|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:27783279|PMID:28102005|PMID:28492532|PMID:28550065|PMID:28961279|PMID:29338689|PMID:29891727|PMID:30306255|PMID:30441849|PMID:30982232|PMID:31159747|PMID:31742824|PMID:32566746|PMID:33471991 12374749 RAD50 RAD50 double strand break repair protein gene DOID:2661 myoepithelioma ISO RGD:733899 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor PMID:28492532 12374749 RAD50 RAD50 double strand break repair protein gene DOID:2671 transitional cell carcinoma ISO RGD:733899 D RGD:9068941 20200609 RGD upper urinary tract urothelial cell carcinoma; DNA:mutation:tumor:associated with microsatellite instability PMID:16288216|REF_RGD_ID:2293511 12374749 RAD50 RAD50 double strand break repair protein gene DOID:2841 asthma ISO RGD:733899 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24241537 12374749 RAD50 RAD50 double strand break repair protein gene DOID:3008 invasive ductal carcinoma ISO RGD:733899 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:reduced in 28% vs adjacent or independent normal breast tissue PMID:14511253|REF_RGD_ID:2300250 12374749 RAD50 RAD50 double strand break repair protein gene DOID:3459 breast carcinoma ISO RGD:733899 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:19409520|PMID:25741868|PMID:26023681|PMID:28123851|PMID:28492532|PMID:31794323|PMID:31980526|PMID:32658311|PMID:33471991 12374749 RAD50 RAD50 double strand break repair protein gene DOID:5082 liver cirrhosis treatment ISO RGD:621542 D RGD:9068941 20200609 RGD PMID:21893185|REF_RGD_ID:9831391 12374749 RAD50 RAD50 double strand break repair protein gene DOID:5426 primary ovarian insufficiency ISO RGD:733899 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:16385572|PMID:25503501|PMID:25741868|PMID:28492532|PMID:30924587|PMID:31159747|PMID:31980526|PMID:32658311|PMID:33471991 12374749 RAD50 RAD50 double strand break repair protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16385572|PMID:18281469|PMID:19409520|PMID:23555315|PMID:24240112|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:28492532|PMID:28550065|PMID:29338689|PMID:29752822|PMID:30306255|PMID:30441849|PMID:31159747|PMID:31666926|PMID:32295079|PMID:32566746 12374749 RAD50 RAD50 double strand break repair protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733899 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18281469|PMID:19409520|PMID:23555315|PMID:24240112|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:28492532|PMID:28550065|PMID:29338689|PMID:29752822|PMID:30306255|PMID:30441849|PMID:31159747|PMID:31666926|PMID:32295079|PMID:32566746 12374749 RAD50 RAD50 double strand break repair protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733899 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16385572|PMID:18281469|PMID:19409520|PMID:23555315|PMID:24240112|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:28492532|PMID:28550065|PMID:28873162|PMID:29338689|PMID:29566657|PMID:29752822|PMID:29961768|PMID:30306255|PMID:30441849|PMID:30755392|PMID:31159747|PMID:31666926|PMID:31742824|PMID:32019284|PMID:32295079|PMID:32566746|PMID:32832836|PMID:32984025|PMID:33378670|PMID:33471991 12374749 RAD50 RAD50 double strand break repair protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733899 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16385572|PMID:18281469|PMID:19409520|PMID:23555315|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:28492532|PMID:28550065|PMID:28873162|PMID:29338689|PMID:29566657|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29961768|PMID:30306255|PMID:30441849|PMID:30755392|PMID:31159747|PMID:31666926|PMID:31742824|PMID:32019284|PMID:32295079|PMID:32566746|PMID:32832836|PMID:32984025|PMID:33378670|PMID:33471991 12374749 RAD50 RAD50 double strand break repair protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733899 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16385572|PMID:18281469|PMID:19409520|PMID:23555315|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:27913932|PMID:28492532|PMID:28550065|PMID:28873162|PMID:29338689|PMID:29566657|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29961768|PMID:30306255|PMID:30441849|PMID:30755392|PMID:31159747|PMID:31589614|PMID:31666926|PMID:31742824|PMID:32019284|PMID:32295079|PMID:32566746|PMID:32832836|PMID:32984025|PMID:33378670|PMID:33471991|PMID:34567246 12374749 RAD50 RAD50 double strand break repair protein gene DOID:5844 myocardial infarction treatment ISO RGD:621542 D RGD:9068941 20200609 RGD PMID:15623426|REF_RGD_ID:9831390 12374749 RAD50 RAD50 double strand break repair protein gene DOID:630 genetic disease ISO RGD:733899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12374749 RAD50 RAD50 double strand break repair protein gene DOID:684 hepatocellular carcinoma ISO RGD:733899 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:16385572|PMID:18281469|PMID:19409520|PMID:24894818|PMID:25452441|PMID:25741868|PMID:28492532|PMID:29961768|PMID:31159747|PMID:32295079 12374749 RAD50 RAD50 double strand break repair protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12374749 RAD50 RAD50 double strand break repair protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10415333|PMID:10892749|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:17713585|PMID:18281469|PMID:18487285|PMID:1887849|PMID:19092773|PMID:19190165|PMID:19279422|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21356067|PMID:21441914|PMID:21643010|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22216297|PMID:22406018|PMID:23265383|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24556621|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25828805|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:28051113|PMID:28102005|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29143133|PMID:29338689|PMID:29484706|PMID:29506128|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29945567|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30283497|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30630526|PMID:30680046|PMID:30788456|PMID:30982232|PMID:31159747|PMID:31512090|PMID:31666926|PMID:31921681|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32854451|PMID:33240314|PMID:33471991|PMID:33606809|PMID:34371384|PMID:9536098 12374749 RAD50 RAD50 double strand break repair protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733899 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10892749|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15852023|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:17713585|PMID:17963004|PMID:18281469|PMID:18487285|PMID:1887849|PMID:19190165|PMID:19279422|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20685668|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21356067|PMID:21441914|PMID:21643010|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22216297|PMID:22406018|PMID:23265383|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24556621|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:28051113|PMID:28102005|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29143133|PMID:29338689|PMID:29484706|PMID:29506128|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29945567|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30283497|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30630526|PMID:30680046|PMID:30788456|PMID:30982232|PMID:31159747|PMID:31512090|PMID:31666926|PMID:31921681|PMID:32187176|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32854451|PMID:33240314|PMID:33471991|PMID:33606809|PMID:34371384|PMID:9536098 12374749 RAD50 RAD50 double strand break repair protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733899 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10892749|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15852023|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:17713585|PMID:17963004|PMID:18281469|PMID:18487285|PMID:1887849|PMID:19190165|PMID:19279422|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20600922|PMID:20685668|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21356067|PMID:21441914|PMID:21643010|PMID:21757780|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22204421|PMID:22216297|PMID:22406018|PMID:23265383|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24556621|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27009842|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27782108|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:28051113|PMID:28102005|PMID:28123851|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29143133|PMID:29338689|PMID:29368209|PMID:29484706|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29895855|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30630526|PMID:30680046|PMID:30755392|PMID:30765449|PMID:30788456|PMID:30924587|PMID:30982232|PMID:31068370|PMID:31159747|PMID:31345636|PMID:31512090|PMID:31666926|PMID:31721094|PMID:31742824|PMID:31794323|PMID:31921681|PMID:31980526|PMID:32008151|PMID:32019284|PMID:32077636|PMID:32187176|PMID:32255556|PMID:32295079|PMID:32332016|PMID:32522261|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32832836|PMID:32854451|PMID:32984025|PMID:33134171|PMID:33240314|PMID:33378670|PMID:33471991|PMID:33606809|PMID:33606978|PMID:33754015|PMID:34371384|PMID:34572942|PMID:9536098 12374749 RAD50 RAD50 double strand break repair protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733899 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10892749|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15852023|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:17713585|PMID:17963004|PMID:18281469|PMID:18487285|PMID:1887849|PMID:19190165|PMID:19279422|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20600922|PMID:20685668|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21356067|PMID:21441914|PMID:21643010|PMID:21757780|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22204421|PMID:22216297|PMID:22406018|PMID:23265383|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24556621|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27009842|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27782108|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:28050010|PMID:28051113|PMID:28102005|PMID:28123851|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29143133|PMID:29338689|PMID:29368209|PMID:29484706|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29895855|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30630526|PMID:30680046|PMID:30755392|PMID:30765449|PMID:30788456|PMID:30924587|PMID:30982232|PMID:31068370|PMID:31159747|PMID:31345636|PMID:31512090|PMID:31589614|PMID:31666926|PMID:31721094|PMID:31742824|PMID:31794323|PMID:31911633|PMID:31921681|PMID:31980526|PMID:32008151|PMID:32019284|PMID:32077636|PMID:32187176|PMID:32255556|PMID:32295079|PMID:32332016|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32832836|PMID:32854451|PMID:32984025|PMID:33099839|PMID:33134171|PMID:33240314|PMID:33378670|PMID:33471991|PMID:33606809|PMID:33606978|PMID:33754015|PMID:34371384|PMID:34567246|PMID:34572942|PMID:35187501|PMID:35626031|PMID:36035419|PMID:9536098 12374749 RAD50 RAD50 double strand break repair protein gene DOID:9008829 Nijmegen Breakage Syndrome-Like Disorder ISO RGD:733899 D RGD:7240710 20180130 OMIM 12374749 RAD50 RAD50 double strand break repair protein gene DOID:9008829 Nijmegen Breakage Syndrome-Like Disorder ISO RGD:733899 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Nijmegen breakage syndrome-like disorder PMID:10892749|PMID:14684699|PMID:15855896|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:18281469|PMID:1887849|PMID:19190165|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19904603|PMID:19917125|PMID:20571869|PMID:20805886|PMID:20981092|PMID:21757780|PMID:21778326|PMID:21811815|PMID:22216297|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27009842|PMID:27016235|PMID:27153395|PMID:27498913|PMID:27782108|PMID:27783279|PMID:27884173|PMID:28050010|PMID:28051113|PMID:28102005|PMID:28152038|PMID:28202063|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:29143133|PMID:29338689|PMID:29368209|PMID:29484706|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29945567|PMID:29961768|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30441849|PMID:30613976|PMID:30680046|PMID:30755392|PMID:30788456|PMID:30924587|PMID:30982232|PMID:31159747|PMID:31345636|PMID:31512090|PMID:31666926|PMID:31721094|PMID:31742824|PMID:31911633|PMID:31921681|PMID:31980526|PMID:32019284|PMID:32077636|PMID:32212377|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32854451|PMID:32984025|PMID:33378670|PMID:33471991|PMID:33606809|PMID:33606978|PMID:34371384|PMID:9536098 12374749 RAD50 RAD50 double strand break repair protein gene DOID:9008939 Breast Neoplasms ISO RGD:733899 D RGD:9068941 20200609 RGD DNA:deletion, splicing error::687delT, increased frequency in Finnish patients (8/317, p=0.008), possibly a founder mutation PMID:16474176|REF_RGD_ID:2300220 12374749 RAD50 RAD50 double strand break repair protein gene DOID:9008939 Breast Neoplasms treatment ISO RGD:733899 D RGD:9068941 20200609 RGD human gene in a rat model PMID:11373271|REF_RGD_ID:9831192 12374749 RAD50 RAD50 double strand break repair protein gene DOID:9008952 Breast Cancer, Familial ISO RGD:733899 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:24894818|PMID:25741868|PMID:26689913|PMID:26787654|PMID:28492532|PMID:28550065|PMID:30306255|PMID:30441849|PMID:31159747|PMID:32566746|PMID:33471991 12374778 PIGO phosphatidylinositol glycan anchor biosynthesis class O gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1319869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12374778 PIGO phosphatidylinositol glycan anchor biosynthesis class O gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1319869 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12374778 PIGO phosphatidylinositol glycan anchor biosynthesis class O gene DOID:0080942 anauxetic dysplasia ISO RGD:1319869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12374778 PIGO phosphatidylinositol glycan anchor biosynthesis class O gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1319869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12374778 PIGO phosphatidylinositol glycan anchor biosynthesis class O gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1319869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12374778 PIGO phosphatidylinositol glycan anchor biosynthesis class O gene DOID:10487 Hirschsprung's disease ISO RGD:1319869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon PMID:25741868 12374778 PIGO phosphatidylinositol glycan anchor biosynthesis class O gene DOID:1059 intellectual disability ISO RGD:1319869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26467025|PMID:28492532 12374778 PIGO phosphatidylinositol glycan anchor biosynthesis class O gene DOID:630 genetic disease ISO RGD:1319869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22683086|PMID:24033266|PMID:24417746|PMID:25741868|PMID:28492532|PMID:28545593 12374778 PIGO phosphatidylinositol glycan anchor biosynthesis class O gene DOID:9002100 Hyperphosphatasia with Mental Retardation Syndrome 1 ISO RGD:1319869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 PMID:25741868 12374778 PIGO phosphatidylinositol glycan anchor biosynthesis class O gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1319869 D RGD:7240710 20191002 OMIM 12374778 PIGO phosphatidylinositol glycan anchor biosynthesis class O gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1319869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 PMID:16199547|PMID:17576681|PMID:22683086|PMID:24033266|PMID:24417746|PMID:25741868|PMID:26467025|PMID:26633542|PMID:28337824|PMID:28492532|PMID:28545593|PMID:30109123|PMID:9536098 12374778 PIGO phosphatidylinositol glycan anchor biosynthesis class O gene DOID:9005046 Hyperphosphatasia with Impaired Intellectual Development Syndrome ISO RGD:1319869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome PMID:22683086|PMID:24033266|PMID:24417746|PMID:25741868|PMID:28492532|PMID:28545593 12374778 PIGO phosphatidylinositol glycan anchor biosynthesis class O gene DOID:9562 primary ciliary dyskinesia ISO RGD:1319869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12374778 PIGO phosphatidylinositol glycan anchor biosynthesis class O gene DOID:9870 galactosemia ISO RGD:1319869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12374809 PLAAT5 phospholipase A and acyltransferase 5 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12374809 PLAAT5 phospholipase A and acyltransferase 5 gene DOID:1059 intellectual disability ISO RGD:1606473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12374809 PLAAT5 phospholipase A and acyltransferase 5 gene DOID:630 genetic disease ISO RGD:1606473 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374821 U2AF1L4 U2 small nuclear RNA auxiliary factor 1 like 4 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1343980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12374821 U2AF1L4 U2 small nuclear RNA auxiliary factor 1 like 4 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1343980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12374821 U2AF1L4 U2 small nuclear RNA auxiliary factor 1 like 4 gene DOID:543 dystonia ISO RGD:1343980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12374821 U2AF1L4 U2 small nuclear RNA auxiliary factor 1 like 4 gene DOID:630 genetic disease ISO RGD:1343980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374840 CLDN10 claudin 10 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1317558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 12374840 CLDN10 claudin 10 gene DOID:1790 malignant mesothelioma ISO RGD:1317558 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 12374840 CLDN10 claudin 10 gene DOID:4500 hypokalemia ISO RGD:1317558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokalemia PMID:25741868 12374840 CLDN10 claudin 10 gene DOID:630 genetic disease ISO RGD:1317558 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12374840 CLDN10 claudin 10 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1317558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12374840 CLDN10 claudin 10 gene DOID:9007180 HELIX syndrome ISO RGD:1317558 D RGD:7240710 20190315 OMIM 12374840 CLDN10 claudin 10 gene DOID:9007180 HELIX syndrome ISO RGD:1317558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HELIX syndrome PMID:25741868|PMID:25741903|PMID:28686597|PMID:28771254|PMID:32860008 12374863 BBS2 Bardet-Biedl syndrome 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:732435 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12374863 BBS2 Bardet-Biedl syndrome 2 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:732435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:12524598|PMID:22025579|PMID:24349080|PMID:24793135|PMID:25741868|PMID:26467025|PMID:28492532 12374863 BBS2 Bardet-Biedl syndrome 2 gene DOID:0110124 Bardet-Biedl syndrome 2 ISO RGD:732435 D RGD:7240710 20180130 OMIM 12374863 BBS2 Bardet-Biedl syndrome 2 gene DOID:0110124 Bardet-Biedl syndrome 2 ISO RGD:732435 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 2 PMID:11285252|PMID:11567139|PMID:12016587|PMID:12524598|PMID:12677556|PMID:12837689|PMID:12920096|PMID:14520415|PMID:15666242|PMID:15770229|PMID:16199547|PMID:16582908|PMID:16823392|PMID:16877420|PMID:16909204|PMID:17576681|PMID:19402160|PMID:19797195|PMID:20120035|PMID:20177705|PMID:20498079|PMID:20618352|PMID:21044901|PMID:21052717|PMID:21157496|PMID:21344540|PMID:21463199|PMID:21642631|PMID:22025579|PMID:22353939|PMID:22401627|PMID:22410627|PMID:22773737|PMID:22981120|PMID:23432027|PMID:23829372|PMID:24033266|PMID:24154662|PMID:24280758|PMID:24349080|PMID:24608809|PMID:24793135|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25533962|PMID:25541840|PMID:25611614|PMID:25741868|PMID:25988237|PMID:25999675|PMID:26078953|PMID:26325687|PMID:26355662|PMID:26467025|PMID:26518167|PMID:27032803|PMID:27058611|PMID:27353947|PMID:27659767|PMID:27708425|PMID:27894351|PMID:28005958|PMID:28143435|PMID:28374938|PMID:28387813|PMID:28418496|PMID:28492532|PMID:28559085|PMID:28717663|PMID:28800606|PMID:29588463|PMID:30029678|PMID:30293640|PMID:30718709|PMID:30902645|PMID:31054281|PMID:31283077|PMID:31429209|PMID:31456290|PMID:31530639|PMID:31960602|PMID:32349990|PMID:32436246|PMID:33138063|PMID:33226606|PMID:33520300|PMID:33777945|PMID:33921607|PMID:34008892|PMID:8298649|PMID:9536098 12374863 BBS2 Bardet-Biedl syndrome 2 gene DOID:0110401 retinitis pigmentosa 74 ISO RGD:732435 D RGD:7240710 20180130 OMIM 12374863 BBS2 Bardet-Biedl syndrome 2 gene DOID:0110401 retinitis pigmentosa 74 ISO RGD:732435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 74 PMID:11285252|PMID:11567139|PMID:12837689|PMID:19402160|PMID:20177705|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21642631|PMID:22401627|PMID:22410627|PMID:23829372|PMID:24608809|PMID:25133751|PMID:25412400|PMID:25541840|PMID:25741868|PMID:25988237|PMID:25999675|PMID:26467025|PMID:26518167|PMID:27659767|PMID:28143435|PMID:28492532|PMID:28559085|PMID:31054281|PMID:31530639|PMID:34008892 12374863 BBS2 Bardet-Biedl syndrome 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:732435 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12374863 BBS2 Bardet-Biedl syndrome 2 gene DOID:10584 retinitis pigmentosa ISO RGD:732435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11285252|PMID:11567139|PMID:17576681|PMID:19402160|PMID:20120035|PMID:20177705|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21642631|PMID:22401627|PMID:22410627|PMID:23829372|PMID:24033266|PMID:24608809|PMID:25133751|PMID:25412400|PMID:25541840|PMID:25741868|PMID:26355662|PMID:26518167|PMID:27659767|PMID:27894351|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31530639|PMID:32037395|PMID:33777945|PMID:33921607|PMID:34008892|PMID:9536098 12374863 BBS2 Bardet-Biedl syndrome 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732435 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:11567139|PMID:11886943|PMID:12016587|PMID:12524598|PMID:12677556|PMID:12837689|PMID:12920096|PMID:14520415|PMID:15666242|PMID:15770229|PMID:16199547|PMID:16877420|PMID:16909204|PMID:17576681|PMID:19402160|PMID:19797195|PMID:20120035|PMID:20177705|PMID:20498079|PMID:20618352|PMID:21044901|PMID:21052717|PMID:21157496|PMID:21344540|PMID:21463199|PMID:21642631|PMID:22025579|PMID:22353939|PMID:22401627|PMID:22410627|PMID:22773737|PMID:22981120|PMID:23432027|PMID:23829372|PMID:24033266|PMID:24154662|PMID:24280758|PMID:24349080|PMID:24608809|PMID:24793135|PMID:24849935|PMID:25133751|PMID:25170860|PMID:25412400|PMID:25525159|PMID:25533962|PMID:25541840|PMID:25611614|PMID:25741868|PMID:25988237|PMID:25999675|PMID:26078953|PMID:26325687|PMID:26355662|PMID:26467025|PMID:26518167|PMID:27032803|PMID:27058611|PMID:27353947|PMID:27659767|PMID:27708425|PMID:27894351|PMID:28005958|PMID:28143435|PMID:28374938|PMID:28387813|PMID:28418496|PMID:28492532|PMID:28559085|PMID:28717663|PMID:28747448|PMID:28800606|PMID:29588463|PMID:30029678|PMID:30293640|PMID:30614526|PMID:30718709|PMID:30866059|PMID:30902645|PMID:31054281|PMID:31196119|PMID:31283077|PMID:31429209|PMID:31456290|PMID:31530639|PMID:31630094|PMID:31960602|PMID:32037395|PMID:32349990|PMID:32436246|PMID:33138063|PMID:33226606|PMID:33520300|PMID:33777945|PMID:33781268|PMID:33921607|PMID:34008892|PMID:8298649|PMID:9536098 12374863 BBS2 Bardet-Biedl syndrome 2 gene DOID:630 genetic disease ISO RGD:732435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11285252|PMID:11567139|PMID:17576681|PMID:19402160|PMID:20120035|PMID:20177705|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21642631|PMID:22401627|PMID:22410627|PMID:23829372|PMID:24033266|PMID:24608809|PMID:25133751|PMID:25412400|PMID:25541840|PMID:25741868|PMID:25988237|PMID:25999675|PMID:26518167|PMID:27659767|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31530639|PMID:9536098 12374863 BBS2 Bardet-Biedl syndrome 2 gene DOID:8501 fundus dystrophy ISO RGD:732435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11285252|PMID:11567139|PMID:12837689|PMID:15666242|PMID:16199547|PMID:19402160|PMID:20120035|PMID:20177705|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21463199|PMID:21642631|PMID:22401627|PMID:22410627|PMID:23829372|PMID:24280758|PMID:24608809|PMID:25133751|PMID:25412400|PMID:25541840|PMID:25741868|PMID:26518167|PMID:27353947|PMID:27659767|PMID:28492532|PMID:28559085|PMID:30029678|PMID:30718709|PMID:31530639|PMID:33520300|PMID:33777945 12374863 BBS2 Bardet-Biedl syndrome 2 gene DOID:9000726 Bardet-Biedl Syndrome 2/6, Digenic ISO RGD:732435 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Bardet-biedl syndrome 2/6, digenic PMID:11285252|PMID:11567139|PMID:15666242|PMID:20120035|PMID:20177705|PMID:20498079|PMID:21344540|PMID:24608809|PMID:25741868|PMID:26518167|PMID:28492532|PMID:30718709 12374863 BBS2 Bardet-Biedl syndrome 2 gene DOID:9001876 Bardet-Biedl Syndrome 2/4, Digenic ISO RGD:732435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-biedl syndrome 2/4, digenic PMID:11567139|PMID:20498079|PMID:26355662|PMID:27894351|PMID:28492532|PMID:33777945|PMID:33921607 12374863 BBS2 Bardet-Biedl syndrome 2 gene DOID:9003383 Bardet-Biedl Syndrome 1/2, Digenic ISO RGD:732435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-biedl syndrome 1/2, digenic PMID:11285252|PMID:11567139|PMID:19402160|PMID:20177705|PMID:20498079|PMID:21344540|PMID:21642631|PMID:22410627|PMID:23829372|PMID:24608809|PMID:25541840|PMID:25741868|PMID:26518167|PMID:28492532 12374863 BBS2 Bardet-Biedl syndrome 2 gene DOID:9970 obesity susceptibility ISO RGD:732435 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17003356|REF_RGD_ID:1601311 12374887 BRD7 bromodomain containing 7 gene DOID:0080199 colorectal carcinoma severity ISO RGD:1320478 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:colon: PMID:23215825|REF_RGD_ID:9586444 12374887 BRD7 bromodomain containing 7 gene DOID:0111122 nephronophthisis 14 ISO RGD:1320478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 12374887 BRD7 bromodomain containing 7 gene DOID:2152 ovary epithelial cancer severity ISO RGD:1320478 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary PMID:24198243|REF_RGD_ID:9586445 12374887 BRD7 bromodomain containing 7 gene DOID:3068 glioblastoma ISO RGD:1320478 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:24404152|REF_RGD_ID:9586441 12374887 BRD7 bromodomain containing 7 gene DOID:3069 malignant astrocytoma severity ISO RGD:1320478 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:24404152|REF_RGD_ID:9586441 12374887 BRD7 bromodomain containing 7 gene DOID:3070 high grade glioma ISO RGD:1320478 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:24404152|REF_RGD_ID:9586441 12374887 BRD7 bromodomain containing 7 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1320478 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:22008115|REF_RGD_ID:9586442 12374887 BRD7 bromodomain containing 7 gene DOID:630 genetic disease ISO RGD:1320478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374887 BRD7 bromodomain containing 7 gene DOID:9000081 Lymphatic Metastasis severity ISO RGD:1320478 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:22008115|REF_RGD_ID:9586442 12374887 BRD7 bromodomain containing 7 gene DOID:9008863 Malignant Granular Cell Tumor ISO RGD:1320478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: malignant granular cell tumor 12374887 BRD7 bromodomain containing 7 gene DOID:9119 acute myeloid leukemia ISO RGD:1320478 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow: PMID:18772500|REF_RGD_ID:9586443 12374887 BRD7 bromodomain containing 7 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1320478 D RGD:9068941 20200609 RGD DNA:haplotype:cds:737A>G,495C>T(human) PMID:18772500|REF_RGD_ID:9586443 12374907 SHROOM3 shroom family member 3 gene DOID:630 genetic disease ISO RGD:1602873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12374907 SHROOM3 shroom family member 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1602873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 12374907 SHROOM3 shroom family member 3 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1602873 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12374947 DOCK7 dedicator of cytokinesis 7 gene DOID:0080415 developmental and epileptic encephalopathy 23 ISO RGD:1352133 D RGD:7240710 20180130 OMIM 12374947 DOCK7 dedicator of cytokinesis 7 gene DOID:0080415 developmental and epileptic encephalopathy 23 ISO RGD:1352133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 PMID:16199547|PMID:17576681|PMID:24814191|PMID:25363768|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31175295|PMID:31785789|PMID:9536098 12374947 DOCK7 dedicator of cytokinesis 7 gene DOID:0111061 familial hypobetalipoproteinemia 2 ISO RGD:1352133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 PMID:19075393|PMID:20942659|PMID:22062970|PMID:22247256|PMID:28492532|PMID:32041611 12374947 DOCK7 dedicator of cytokinesis 7 gene DOID:0111376 fetal akinesia deformation sequence syndrome 3 ISO RGD:1352133 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 PMID:25741868 12374947 DOCK7 dedicator of cytokinesis 7 gene DOID:1059 intellectual disability ISO RGD:1352133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12374947 DOCK7 dedicator of cytokinesis 7 gene DOID:1826 epilepsy ISO RGD:1352133 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12374947 DOCK7 dedicator of cytokinesis 7 gene DOID:2223 platelet storage pool deficiency ISO RGD:1320319 D RGD:9068941 20220825 MouseDO OMIM:185050 12374947 DOCK7 dedicator of cytokinesis 7 gene DOID:630 genetic disease ISO RGD:1352133 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32041611|PMID:9536098 12374947 DOCK7 dedicator of cytokinesis 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12375002 LDAF1 lipid droplet assembly factor 1 gene DOID:630 genetic disease ISO RGD:1601747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12375018 CHMP4A charged multivesicular body protein 4A gene DOID:0060439 lysinuric protein intolerance ISO RGD:1342527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12375018 CHMP4A charged multivesicular body protein 4A gene DOID:630 genetic disease ISO RGD:1342527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12375018 CHMP4A charged multivesicular body protein 4A gene DOID:9000265 Specific Granule Deficiency ISO RGD:1342527 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12375018 CHMP4A charged multivesicular body protein 4A gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1342527 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12375035 AK8 adenylate kinase 8 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12375035 AK8 adenylate kinase 8 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1350831 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:25741868|PMID:28492532 12375035 AK8 adenylate kinase 8 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1350831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12375035 AK8 adenylate kinase 8 gene DOID:0081097 Rafiq syndrome ISO RGD:1350831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12375035 AK8 adenylate kinase 8 gene DOID:10908 hydrocephalus ISO RGD:1332480 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 12375035 AK8 adenylate kinase 8 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1350831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12375035 AK8 adenylate kinase 8 gene DOID:3652 Leigh disease ISO RGD:1350831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12375035 AK8 adenylate kinase 8 gene DOID:630 genetic disease ISO RGD:1350831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:620298 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:0080208 non-alcoholic fatty liver disease disease_progression ISO RGD:620298 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:23117815|REF_RGD_ID:15045604 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:0090019 sitosterolemia ISO RGD:732219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sitosterolemia PMID:11138003|PMID:11452359|PMID:11668628|PMID:11855938|PMID:11893785|PMID:11907139|PMID:15054092|PMID:15375183|PMID:16199547|PMID:17228349|PMID:17576681|PMID:17632509|PMID:17976197|PMID:19111681|PMID:19667188|PMID:20466091|PMID:20521169|PMID:20543520|PMID:20719861|PMID:21039838|PMID:21274884|PMID:21576934|PMID:21729603|PMID:22898925|PMID:24033266|PMID:24166850|PMID:24423340|PMID:24503134|PMID:25525159|PMID:25665839|PMID:25741868|PMID:26813946|PMID:26892138|PMID:27291889|PMID:27884173|PMID:28203044|PMID:28492532|PMID:28521186|PMID:28696550|PMID:28771437|PMID:29055934|PMID:29066094|PMID:29353225|PMID:29886606|PMID:30007774|PMID:30270055|PMID:30349881|PMID:30528907|PMID:30697800|PMID:30782472|PMID:30833958|PMID:30985648|PMID:31060161|PMID:31064749|PMID:31589614|PMID:31795497|PMID:31901240|PMID:32041611|PMID:32088153|PMID:32166861|PMID:32275988|PMID:32702746|PMID:32862661|PMID:33217533|PMID:33269076|PMID:33642439|PMID:34505049|PMID:34969652|PMID:9536098 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:0090019 sitosterolemia susceptibility ISO RGD:620298 D RGD:9068941 20210326 RGD DNA:missense mutation: p.G583C , 1757G>T (rat) PMID:16026620|REF_RGD_ID:1598659 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:732219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 PMID:26077881 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:13580 cholestasis ISO RGD:620298 D RGD:9068941 20200609 RGD PMID:16764892|REF_RGD_ID:1598662 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:1588 thrombocytopenia ISO RGD:732219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532|PMID:31064749|PMID:32088153 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:1936 atherosclerosis ISO RGD:732219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11138003 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:2213 hemorrhagic disease ISO RGD:732219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:732219 D RGD:9068941 20200609 RGD PMID:11099417|REF_RGD_ID:1300331 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:3146 lipid metabolism disorder ISO RGD:732219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11138003 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:3345 xanthomatosis ISO RGD:732219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11138003 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:3393 coronary artery disease ISO RGD:732219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11099417|PMID:11138003 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:3883 Lynch syndrome ISO RGD:732219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:589 congenital hemolytic anemia ISO RGD:732219 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:630 genetic disease ISO RGD:732219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:9000528 Coronary Disease ISO RGD:732219 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset coronary artery disease 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:9000808 Hypercholesterolemia ISO RGD:732219 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:9001723 Sitosterolemia 2 ISO RGD:732219 D RGD:7240710 20191211 OMIM 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:9001723 Sitosterolemia 2 ISO RGD:732219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sitosterolemia 2 PMID:11099417|PMID:11138003|PMID:11893785|PMID:11907139|PMID:15054092|PMID:15375183|PMID:16029460|PMID:17228349|PMID:17632509|PMID:17976197|PMID:19111681|PMID:20521169|PMID:20543520|PMID:20719861|PMID:21039838|PMID:21274884|PMID:21729603|PMID:22898925|PMID:24033266|PMID:24166850|PMID:24423340|PMID:25525159|PMID:25665839|PMID:25741868|PMID:26813946|PMID:27884173|PMID:28203044|PMID:28492532|PMID:28521186|PMID:28696550|PMID:28771437|PMID:29055934|PMID:29353225|PMID:29886606|PMID:30007774|PMID:30270055|PMID:30528907|PMID:30697800|PMID:30782472|PMID:30833958|PMID:30985648|PMID:31060161|PMID:31064749|PMID:31589614|PMID:31901240|PMID:32041611|PMID:32088153|PMID:32166861|PMID:32275988|PMID:32862661|PMID:33217533|PMID:33269076|PMID:33642439|PMID:34355501|PMID:34505049|PMID:34969652|PMID:35557526 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22919386 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:9002547 Sitosterolemia 1 ISO RGD:732219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sitosterolemia 1 PMID:11668628|PMID:11893785|PMID:17228349|PMID:17632509|PMID:17976197|PMID:19111681|PMID:20521169|PMID:20719861|PMID:21039838|PMID:21274884|PMID:21729603|PMID:22898925|PMID:24033266|PMID:24166850|PMID:24423340|PMID:24503134|PMID:25525159|PMID:25665839|PMID:25741868|PMID:26813946|PMID:27291889|PMID:27884173|PMID:28492532|PMID:28521186|PMID:28696550|PMID:29055934|PMID:29066094|PMID:29353225|PMID:29886606|PMID:30270055|PMID:30349881|PMID:30528907|PMID:30697800|PMID:30833958|PMID:31060161|PMID:31064749|PMID:31589614|PMID:32041611|PMID:32088153|PMID:32702746|PMID:32862661|PMID:33217533|PMID:33269076|PMID:34969652 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:9003370 Dyslipidemias ISO RGD:732219 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dyslipidemia 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:9004314 Short-Rib Thoracic Dysplasia 15 with Polydactyly ISO RGD:732219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 15 with polydactyly PMID:26077881 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:9004877 Autosomal Dominant Tubulointerstitial Kidney Disease 5 ISO RGD:732219 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 PMID:25741868|PMID:27291889|PMID:28492532|PMID:30270055|PMID:30349881|PMID:32702746 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:9005000 Gallbladder Disease 4 ISO RGD:732219 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gallbladder disease 4 PMID:11893785|PMID:17632509|PMID:21039838|PMID:21274884|PMID:22898925|PMID:25741868|PMID:28492532 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:9005302 Platelet-Type Bleeding Disorder 13 ISO RGD:732219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation PMID:32581362 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620298 D RGD:9068941 20200609 RGD PMID:14618236|REF_RGD_ID:1558629 12375063 ABCG5 ATP binding cassette subfamily G member 5 gene DOID:9970 obesity disease_progression ISO RGD:620298 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25612518|REF_RGD_ID:15045599 12375091 PUS10 pseudouridine synthase 10 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1606697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) 12375091 PUS10 pseudouridine synthase 10 gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:1606697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:10332040|PMID:17576681|PMID:19449432|PMID:21031596|PMID:25741868|PMID:28492532|PMID:34055681|PMID:9536098 12375091 PUS10 pseudouridine synthase 10 gene DOID:630 genetic disease ISO RGD:1606697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12375126 ADGRE5 adhesion G protein-coupled receptor E5 gene DOID:1793 pancreatic cancer ISO RGD:1313717 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:12428789|REF_RGD_ID:2317573 12375126 ADGRE5 adhesion G protein-coupled receptor E5 gene DOID:630 genetic disease ISO RGD:1313717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12375126 ADGRE5 adhesion G protein-coupled receptor E5 gene DOID:850 lung disease ISO RGD:1313717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21602193 12375163 AMOTL1 angiomotin like 1 gene DOID:1059 intellectual disability ISO RGD:1313196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12375163 AMOTL1 angiomotin like 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1313196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12375163 AMOTL1 angiomotin like 1 gene DOID:3070 high grade glioma ISO RGD:1313196 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34480788 12375163 AMOTL1 angiomotin like 1 gene DOID:630 genetic disease ISO RGD:1313196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12375163 AMOTL1 angiomotin like 1 gene DOID:9000918 Disease Progression ISO RGD:1313196 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34480788 12375163 AMOTL1 angiomotin like 1 gene DOID:9003133 Hypertelorism ISO RGD:1313196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868|PMID:28492532|PMID:33026150 12375163 AMOTL1 angiomotin like 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1313196 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34480788 12375209 SUSD5 sushi domain containing 5 gene DOID:630 genetic disease ISO RGD:1607061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12375232 THAP6 THAP domain containing 6 gene DOID:630 genetic disease ISO RGD:1320801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12375232 THAP6 THAP domain containing 6 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1320801 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12375249 ARSI arylsulfatase family member I gene DOID:0060041 autism spectrum disorder ISO RGD:1604953 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12375249 ARSI arylsulfatase family member I gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604953 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12375249 ARSI arylsulfatase family member I gene DOID:2476 hereditary spastic paraplegia ISO RGD:1604953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28492532|PMID:28832565 12375249 ARSI arylsulfatase family member I gene DOID:607 paraplegia ISO RGD:1604953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:28492532|PMID:28832565 12375249 ARSI arylsulfatase family member I gene DOID:630 genetic disease ISO RGD:1604953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12375249 ARSI arylsulfatase family member I gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604953 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12375254 EPN2 epsin 2 gene DOID:0050777 Joubert syndrome ISO RGD:1351510 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12375254 EPN2 epsin 2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1351510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12375254 EPN2 epsin 2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1351510 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12375254 EPN2 epsin 2 gene DOID:12849 autistic disorder ISO RGD:1351510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12375254 EPN2 epsin 2 gene DOID:630 genetic disease ISO RGD:1351510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12375254 EPN2 epsin 2 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1351510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 12375274 NEK9 NIMA related kinase 9 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1316228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome PMID:25741868 12375274 NEK9 NIMA related kinase 9 gene DOID:10283 prostate cancer ISO RGD:1316228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12375274 NEK9 NIMA related kinase 9 gene DOID:1059 intellectual disability ISO RGD:1316228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12375274 NEK9 NIMA related kinase 9 gene DOID:630 genetic disease ISO RGD:1316228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:31131953 12375274 NEK9 NIMA related kinase 9 gene DOID:674 cleft palate ISO RGD:1316228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate 12375274 NEK9 NIMA related kinase 9 gene DOID:9003288 Lethal Congenital Contracture Syndrome 10 ISO RGD:1316228 D RGD:7240710 20190315 OMIM 12375274 NEK9 NIMA related kinase 9 gene DOID:9003288 Lethal Congenital Contracture Syndrome 10 ISO RGD:1316228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 10 PMID:25741868|PMID:26908619 12375274 NEK9 NIMA related kinase 9 gene DOID:9008794 ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY ISO RGD:1316228 D RGD:7240710 20190315 OMIM 12375274 NEK9 NIMA related kinase 9 gene DOID:9008794 ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY ISO RGD:1316228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy PMID:25741868|PMID:26633546|PMID:28492532 12375274 NEK9 NIMA related kinase 9 gene DOID:9009038 Nevus Comedonicus ISO RGD:1316228 D RGD:7240710 20190315 OMIM 12375274 NEK9 NIMA related kinase 9 gene DOID:9009038 Nevus Comedonicus ISO RGD:1316228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nevus comedonicus PMID:27153399 12375299 RTL4 retrotransposon Gag like 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12375299 RTL4 retrotransposon Gag like 4 gene DOID:12849 autistic disorder ISO RGD:1603494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12375299 RTL4 retrotransposon Gag like 4 gene DOID:5419 schizophrenia ISO RGD:1603494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12375299 RTL4 retrotransposon Gag like 4 gene DOID:630 genetic disease ISO RGD:1603494 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12375317 LINS1 lines homolog 1 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1602699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 12375317 LINS1 lines homolog 1 gene DOID:0081193 autosomal recessive intellectual developmental disorder 27 ISO RGD:1602699 D RGD:7240710 20180130 OMIM 12375317 LINS1 lines homolog 1 gene DOID:0081193 autosomal recessive intellectual developmental disorder 27 ISO RGD:1602699 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 27 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 27 PMID:21937992|PMID:23773660|PMID:25741868|PMID:28492532|PMID:30090841|PMID:32499722|PMID:32802957 12375317 LINS1 lines homolog 1 gene DOID:1059 intellectual disability ISO RGD:1602699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 12375317 LINS1 lines homolog 1 gene DOID:10907 microcephaly ISO RGD:1602699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12375317 LINS1 lines homolog 1 gene DOID:630 genetic disease ISO RGD:1602699 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12375317 LINS1 lines homolog 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12375343 NUP214 nucleoporin 214 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316779 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12375343 NUP214 nucleoporin 214 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1316779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 12375343 NUP214 nucleoporin 214 gene DOID:10907 microcephaly ISO RGD:1316779 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Progressive microcephaly PMID:25741868|PMID:31178128 12375343 NUP214 nucleoporin 214 gene DOID:630 genetic disease ISO RGD:1316779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12375343 NUP214 nucleoporin 214 gene DOID:9001487 Facies ISO RGD:1316779 D RGD:8554872 20221018 ClinVar ClinVar Annotator: match by term: facial dysmorphism 12375343 NUP214 nucleoporin 214 gene DOID:9002011 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9 ISO RGD:1316779 D RGD:7240710 20230505 OMIM 12375343 NUP214 nucleoporin 214 gene DOID:9002011 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9 ISO RGD:1316779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 9 PMID:25741868|PMID:30758658|PMID:31178128 12375343 NUP214 nucleoporin 214 gene DOID:9006257 Growth Disorders ISO RGD:1316779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation 12375343 NUP214 nucleoporin 214 gene DOID:9008086 Developmental Disabilities ISO RGD:1316779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay 12375343 NUP214 nucleoporin 214 gene DOID:9008582 Developmental Disease ISO RGD:1316779 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12375343 NUP214 nucleoporin 214 gene DOID:9119 acute myeloid leukemia ISO RGD:1316779 D RGD:7240710 20180130 OMIM 12375343 NUP214 nucleoporin 214 gene DOID:936 brain disease ISO RGD:1316779 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 12375343 NUP214 nucleoporin 214 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1316779 D RGD:7240710 20230505 OMIM 12375383 PRR11 proline rich 11 gene DOID:0050436 mulibrey nanism ISO RGD:1601861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mulibrey nanism syndrome PMID:21681106 12375383 PRR11 proline rich 11 gene DOID:0050777 Joubert syndrome ISO RGD:1601861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12375383 PRR11 proline rich 11 gene DOID:0080600 COVID-19 ISO RGD:1601861 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12375383 PRR11 proline rich 11 gene DOID:630 genetic disease ISO RGD:1601861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12375397 CCDC172 coiled-coil domain containing 172 gene DOID:0050778 Meckel syndrome ISO RGD:1346141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 12375397 CCDC172 coiled-coil domain containing 172 gene DOID:630 genetic disease ISO RGD:1346141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12375411 OSM oncostatin M gene DOID:0080600 COVID-19 ISO RGD:69134 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12375411 OSM oncostatin M gene DOID:2773 contact dermatitis ISO RGD:69134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12375411 OSM oncostatin M gene DOID:3587 pancreatic ductal carcinoma ISO RGD:69134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24979617 12375411 OSM oncostatin M gene DOID:630 genetic disease ISO RGD:69134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12375411 OSM oncostatin M gene DOID:676 juvenile rheumatoid arthritis ISO RGD:69134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12375411 OSM oncostatin M gene DOID:9000965 Neoplasm Metastasis ISO RGD:69134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937440 12375411 OSM oncostatin M gene DOID:9001341 Chloracne ISO RGD:69134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12375411 OSM oncostatin M gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69134 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17640959 12375438 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:732873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12375438 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:621032 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 12375438 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:1561 cognitive disorder ISO RGD:732873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 12375438 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:1852 intrahepatic cholestasis ISO RGD:621032 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:18578998|REF_RGD_ID:2311605 12375438 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:3883 Lynch syndrome ISO RGD:732873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:11136233|PMID:20233523|PMID:28492532|PMID:33094510 12375438 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:3883 Lynch syndrome ISO RGD:732873 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer PMID:11136233|PMID:20233523|PMID:25741868|PMID:28492532|PMID:33094510 12375438 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:630 genetic disease ISO RGD:732873 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12375438 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:732873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23811326 12375438 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 12375438 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:9002661 Diabetes Complications ISO RGD:732873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 12375438 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732873 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29943110 12375438 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:9351 diabetes mellitus ISO RGD:621032 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreatic islet PMID:17259388|REF_RGD_ID:2311606 12375438 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732873 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple PMID:18781616|REF_RGD_ID:2311604 12375438 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:9452 fatty liver disease ISO RGD:732873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27664470 12375438 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:9455 lipid storage disease ISO RGD:732873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557 12375438 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:9970 obesity ISO RGD:732873 D RGD:7240710 20180130 OMIM 12375438 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:9970 obesity ISO RGD:732873 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, mild, early-onset PMID:11136233|PMID:20233523|PMID:25741868|PMID:28492532|PMID:33094510 12375444 GKN2 gastrokine 2 gene DOID:630 genetic disease ISO RGD:1606131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12375459 LZIC leucine zipper and CTNNBIP1 domain containing gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1319494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12375459 LZIC leucine zipper and CTNNBIP1 domain containing gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1319494 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12375459 LZIC leucine zipper and CTNNBIP1 domain containing gene DOID:0111936 immunodeficiency 14 ISO RGD:1319494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 12375459 LZIC leucine zipper and CTNNBIP1 domain containing gene DOID:3347 osteosarcoma ISO RGD:1309253 D RGD:9068941 20200609 RGD PMID:19444910|REF_RGD_ID:2314410 12375459 LZIC leucine zipper and CTNNBIP1 domain containing gene DOID:630 genetic disease ISO RGD:1319494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12375485 MIR454 microRNA mir-454 gene DOID:0050436 mulibrey nanism ISO RGD:2290264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mulibrey nanism syndrome PMID:21681106 12375485 MIR454 microRNA mir-454 gene DOID:6000 congestive heart failure ISO RGD:2290264 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12375563 LOC102155220 39S ribosomal protein L33, mitochondrial-like gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1343335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:0050451 Brugada syndrome ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:25637381|PMID:25741868|PMID:28341588|PMID:28492532 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:0050700 cardiomyopathy ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:23623143|PMID:23861362|PMID:25145518|PMID:25145519|PMID:25642760|PMID:25741868|PMID:26467025|PMID:27173043|PMID:27182706|PMID:27659478|PMID:28104484|PMID:28182231|PMID:28254189|PMID:28341588|PMID:28492532 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:0060224 atrial fibrillation ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:23861362|PMID:25145518|PMID:25145519|PMID:25642760|PMID:25741868|PMID:26467025|PMID:27173043|PMID:27659478|PMID:28104484|PMID:28182231|PMID:28254189|PMID:28492532 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:0060296 congenital secretory chloride diarrhea 1 ISO RGD:737126 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE PMID:25741868|PMID:28492532 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:0060319 cardiac arrest ISO RGD:737126 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:25741868|PMID:28492532 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:0060480 left ventricular noncompaction ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:23861362|PMID:25145518|PMID:25145519|PMID:25642760|PMID:25741868|PMID:26467025|PMID:27173043|PMID:27659478|PMID:28104484|PMID:28182231|PMID:28254189|PMID:28492532 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:0110225 Brugada syndrome 8 ISO RGD:737126 D RGD:7240710 20190116 OMIM 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:0110225 Brugada syndrome 8 ISO RGD:737126 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:12750403|PMID:15123648|PMID:16199547|PMID:17576681|PMID:17646576|PMID:19165230|PMID:19748888|PMID:20662977|PMID:20693575|PMID:21615589|PMID:22840528|PMID:23075627|PMID:23178648|PMID:23623143|PMID:23631727|PMID:23861362|PMID:24033266|PMID:24492017|PMID:24569893|PMID:24607718|PMID:25145517|PMID:25145518|PMID:25145519|PMID:25467552|PMID:25642760|PMID:25741868|PMID:25865493|PMID:26206080|PMID:26383259|PMID:26467025|PMID:26688388|PMID:26704558|PMID:27173043|PMID:27182706|PMID:27439367|PMID:27553229|PMID:27659478|PMID:27930701|PMID:28086167|PMID:28104484|PMID:28182231|PMID:28204831|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28350118|PMID:28492532|PMID:28750076|PMID:28803248|PMID:28855170|PMID:29032884|PMID:29247119|PMID:29255176|PMID:29447731|PMID:30196304|PMID:30391667|PMID:30452770|PMID:30471092|PMID:30578647|PMID:30662450|PMID:30821013|PMID:30847666|PMID:30975432|PMID:30986657|PMID:31043699|PMID:31731876|PMID:31737537|PMID:32577394|PMID:32600061|PMID:32659924|PMID:33008772|PMID:33082984|PMID:33500567|PMID:33587123|PMID:34088380|PMID:9536098 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:737126 D RGD:9068941 20200609 RGD PMID:22683190|REF_RGD_ID:9693691 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737126 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25145518|PMID:25145519|PMID:25642760|PMID:25741868|PMID:26467025|PMID:27173043|PMID:27659478|PMID:28104484|PMID:28182231|PMID:28254189|PMID:28492532|PMID:28803248|PMID:29255176 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28341588|PMID:28492532 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:737126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:2717 Bloom syndrome ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:2843 long QT syndrome ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:26467025|PMID:28492532 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:3320 Tay-Sachs disease ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:5419 schizophrenia ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:6000 congestive heart failure ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868|PMID:28492532 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:630 genetic disease ISO RGD:737126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:737126 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:28492532|PMID:32659924 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:737126 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:17646576|PMID:20662977|PMID:24569893|PMID:25741868|PMID:26688388|PMID:28492532|PMID:28803248|PMID:28807990|PMID:28855170|PMID:32600061|PMID:33082984|PMID:34540771 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9002486 Idiopathic Generalized Epilepsy 18 ISO RGD:737126 D RGD:7240710 20230505 OMIM 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9002486 Idiopathic Generalized Epilepsy 18 ISO RGD:737126 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 18 PMID:23623143|PMID:24033266|PMID:24607718|PMID:25642760|PMID:25741868|PMID:26467025|PMID:27182706|PMID:28254189|PMID:28341588|PMID:28492532|PMID:28803248|PMID:29255176|PMID:30196304|PMID:30452770 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:25741868|PMID:28341588|PMID:28492532 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9003749 Sick Sinus Syndrome 2, Autosomal Dominant ISO RGD:737126 D RGD:7240710 20190116 OMIM 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9003749 Sick Sinus Syndrome 2, Autosomal Dominant ISO RGD:737126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome 2, autosomal dominant PMID:12750403|PMID:15123648|PMID:16407510|PMID:17576681|PMID:17646576|PMID:19748888|PMID:20662977|PMID:20693575|PMID:21615589|PMID:23075627|PMID:23623143|PMID:23631727|PMID:23861362|PMID:24033266|PMID:24492017|PMID:24569893|PMID:24607718|PMID:25145517|PMID:25145518|PMID:25145519|PMID:25467552|PMID:25642760|PMID:25741868|PMID:26206080|PMID:26467025|PMID:26688388|PMID:27173043|PMID:27182706|PMID:27439367|PMID:27553229|PMID:27659478|PMID:27930701|PMID:28086167|PMID:28104484|PMID:28182231|PMID:28204831|PMID:28254188|PMID:28254189|PMID:28341588|PMID:28350118|PMID:28492532|PMID:28803248|PMID:29255176|PMID:29447731|PMID:30196304|PMID:30452770|PMID:30471092|PMID:30847666|PMID:31043699|PMID:33500567|PMID:9536098 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:71065 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:myocyte: PMID:19471099|REF_RGD_ID:9693689 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9005141 Ventricular Tachycardia ISO RGD:737126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:17576681|PMID:19165230|PMID:23861362|PMID:25145518|PMID:25145519|PMID:25642760|PMID:25741868|PMID:26467025|PMID:27173043|PMID:27659478|PMID:28104484|PMID:28182231|PMID:28254189|PMID:28492532|PMID:30986657|PMID:9536098 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9007925 Sudden Cardiac Death ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:21615589|PMID:23623143|PMID:23861362|PMID:24033266|PMID:24569893|PMID:25145517|PMID:25467552|PMID:25642760|PMID:25741868|PMID:26467025|PMID:28492532 12375578 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9256 colorectal cancer ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12375589 XPO5 exportin 5 gene DOID:0050444 infantile Refsum disease ISO RGD:1323025 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12375589 XPO5 exportin 5 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1323025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26878725 12375589 XPO5 exportin 5 gene DOID:12858 Huntington's disease ISO RGD:1323026 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum (mouse) PMID:21035445|REF_RGD_ID:11041745 12375589 XPO5 exportin 5 gene DOID:1612 breast cancer susceptibility ISO RGD:1323025 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.S241N, p.M1115T (rs34324334, rs11544382) (human) PMID:21552306|REF_RGD_ID:11041726 12375589 XPO5 exportin 5 gene DOID:1793 pancreatic cancer ISO RGD:1323026 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreas (mouse) PMID:26516699|REF_RGD_ID:11041739 12375589 XPO5 exportin 5 gene DOID:2154 nephroblastoma ISO RGD:1323025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 12375589 XPO5 exportin 5 gene DOID:2671 transitional cell carcinoma severity ISO RGD:1323025 D RGD:9068941 20200609 RGD mRNA:increased expression:urothelium (human) PMID:22766726|REF_RGD_ID:11041723 12375589 XPO5 exportin 5 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1323025 D RGD:9068941 20200609 RGD DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human) PMID:21799879|REF_RGD_ID:11041736 12375589 XPO5 exportin 5 gene DOID:5409 lung small cell carcinoma severity ISO RGD:1323025 D RGD:9068941 20200609 RGD DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human) PMID:24648983|REF_RGD_ID:11041738 12375589 XPO5 exportin 5 gene DOID:5426 primary ovarian insufficiency susceptibility ISO RGD:1323025 D RGD:9068941 20200609 RGD DNA:snps, haplotype:exon, 3' utr:c.3303C>T, c.*659A>C (rs2257082, rs11077) (human) PMID:23549446|REF_RGD_ID:11041728 12375589 XPO5 exportin 5 gene DOID:630 genetic disease ISO RGD:1323025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12375589 XPO5 exportin 5 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1323025 D RGD:9068941 20200609 RGD DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human) PMID:24676133|REF_RGD_ID:11041737 12375589 XPO5 exportin 5 gene DOID:9000027 Microsatellite Instability ISO RGD:1323025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 12375589 XPO5 exportin 5 gene DOID:9008914 Lead Poisoning ISO RGD:1323025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28042866 12375589 XPO5 exportin 5 gene DOID:905 Zellweger syndrome ISO RGD:1323025 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12375589 XPO5 exportin 5 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1323025 D RGD:9068941 20200609 RGD DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human) PMID:26147304|REF_RGD_ID:11041733 12375589 XPO5 exportin 5 gene DOID:9538 multiple myeloma severity ISO RGD:1323025 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.*659A>C (rs11077) (human) PMID:22539802|REF_RGD_ID:11041735 12375627 PIH1D2 PIH1 domain containing 2 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1605009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 12375627 PIH1D2 PIH1 domain containing 2 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1605009 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 12375627 PIH1D2 PIH1 domain containing 2 gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:1605009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 12375627 PIH1D2 PIH1 domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1605009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12375627 PIH1D2 PIH1 domain containing 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1605009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12375627 PIH1D2 PIH1 domain containing 2 gene DOID:630 genetic disease ISO RGD:1605009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12375627 PIH1D2 PIH1 domain containing 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12375627 PIH1D2 PIH1 domain containing 2 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1605009 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:16049940|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12375639 IRF6 interferon regulatory factor 6 gene DOID:0060055 popliteal pterygium syndrome ISO RGD:1320095 D RGD:7240710 20180130 OMIM 12375639 IRF6 interferon regulatory factor 6 gene DOID:0060055 popliteal pterygium syndrome ISO RGD:1320095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Faciogenitopopliteal syndrome | ClinVar Annotator: match by term: Popliteal pterygium syndrome PMID:12219090|PMID:14757865|PMID:15558496|PMID:16096995|PMID:17551329|PMID:18209213|PMID:18478600|PMID:18617879|PMID:19036739|PMID:19734457|PMID:20803643|PMID:22440537|PMID:22488974|PMID:24936515|PMID:25547932|PMID:25548624|PMID:25691407|PMID:25741868|PMID:28492532|PMID:29453417 12375639 IRF6 interferon regulatory factor 6 gene DOID:0060239 Van der Woude syndrome ISO RGD:1320095 D RGD:7240710 20180130 OMIM 12375639 IRF6 interferon regulatory factor 6 gene DOID:0060239 Van der Woude syndrome ISO RGD:1320095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cleft lip and/or palate with mucous cysts of lower lip | ClinVar Annotator: match by term: Van der Woude syndrome 1 PMID:12219090|PMID:12920575|PMID:14618417|PMID:14757865|PMID:15317890|PMID:15472655|PMID:15558496|PMID:16096995|PMID:16160700|PMID:16199547|PMID:16211254|PMID:17551329|PMID:18209213|PMID:18478600|PMID:18617879|PMID:19036739|PMID:19282774|PMID:19449419|PMID:19623037|PMID:19734457|PMID:19842205|PMID:20184620|PMID:20301581|PMID:21045959|PMID:21468557|PMID:22440537|PMID:22488974|PMID:23154523|PMID:23949966|PMID:24936515|PMID:25326635|PMID:25547932|PMID:25548624|PMID:25579819|PMID:25741868|PMID:25784454|PMID:27243668|PMID:28492532|PMID:28945736|PMID:29115498|PMID:29453417|PMID:30689861|PMID:31468312 12375639 IRF6 interferon regulatory factor 6 gene DOID:0080403 orofacial cleft 10 ISO RGD:1320095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofacial cleft 10 PMID:26346622|PMID:27834299|PMID:28762674|PMID:28762675|PMID:28762676 12375639 IRF6 interferon regulatory factor 6 gene DOID:0080593 orofacial cleft 6 ISO RGD:1320095 D RGD:7240710 20191127 OMIM 12375639 IRF6 interferon regulatory factor 6 gene DOID:0080593 orofacial cleft 6 ISO RGD:1320095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Orofacial cleft 6, susceptibility to PMID:12219090|PMID:12920575|PMID:15317890|PMID:15472655|PMID:15558496|PMID:16096995|PMID:16160700|PMID:16199547|PMID:16211254|PMID:16998136|PMID:17551329|PMID:17576681|PMID:18209213|PMID:18617879|PMID:19036739|PMID:19282774|PMID:19449419|PMID:19623037|PMID:19734457|PMID:19842205|PMID:20184620|PMID:20301581|PMID:21045959|PMID:21468557|PMID:22440537|PMID:22488974|PMID:23154523|PMID:23394314|PMID:23713753|PMID:23949966|PMID:24936515|PMID:25326635|PMID:25547932|PMID:25548624|PMID:25579819|PMID:25741868|PMID:25784454|PMID:28361103|PMID:28492532|PMID:28945736|PMID:29115498|PMID:29453417|PMID:30982524|PMID:31468312|PMID:31901040|PMID:9536098 12375639 IRF6 interferon regulatory factor 6 gene DOID:11193 syndactyly ISO RGD:1320095 D RGD:9068941 20200609 RGD popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X PMID:12219090|REF_RGD_ID:1600214 12375639 IRF6 interferon regulatory factor 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1320095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12375639 IRF6 interferon regulatory factor 6 gene DOID:630 genetic disease ISO RGD:1320095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12219090|PMID:16199547|PMID:19282774|PMID:19623037|PMID:21468557|PMID:25579819|PMID:28492532 12375639 IRF6 interferon regulatory factor 6 gene DOID:674 cleft palate ISO RGD:1320095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:12920575|PMID:25741868 12375639 IRF6 interferon regulatory factor 6 gene DOID:9001611 Urogenital Abnormalities ISO RGD:1320095 D RGD:9068941 20200609 RGD popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X PMID:12219090|REF_RGD_ID:1600214 12375639 IRF6 interferon regulatory factor 6 gene DOID:9001946 Skin Abnormalities ISO RGD:1320095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17041601 12375639 IRF6 interferon regulatory factor 6 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1320095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17041601 12375639 IRF6 interferon regulatory factor 6 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1320095 D RGD:9068941 20200609 RGD popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X PMID:12219090|REF_RGD_ID:1600214 12375639 IRF6 interferon regulatory factor 6 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17041601 12375639 IRF6 interferon regulatory factor 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12375639 IRF6 interferon regulatory factor 6 gene DOID:9296 cleft lip ISO RGD:1320095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant PMID:28492532 12375655 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1349110 D RGD:9068941 20200609 RGD PMID:26464646|REF_RGD_ID:11526681 12375655 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:10283 prostate cancer ISO RGD:1349110 D RGD:9068941 20200609 RGD protein:increased expression:prostate PMID:19176382|REF_RGD_ID:13838848 12375655 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:630 genetic disease ISO RGD:1349110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12375655 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:6846 familial melanoma ISO RGD:1349110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 12375655 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:9007090 Experimental Seizures ISO RGD:1619007 D RGD:9068941 20200609 RGD PMID:21925531|REF_RGD_ID:13838850 12375655 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:9008023 Memory Disorders ISO RGD:1619007 D RGD:9068941 20200609 RGD PMID:21632930|REF_RGD_ID:13838852 12375655 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1619007 D RGD:9068941 20200609 RGD PMID:20068140|REF_RGD_ID:13838849 12375655 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:9970 obesity ISO RGD:1619007 D RGD:9068941 20200609 RGD PMID:20068140|REF_RGD_ID:13838849 12375677 CRACDL CRACD like gene DOID:630 genetic disease ISO RGD:1602270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12375691 CHSY3 chondroitin sulfate synthase 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603860 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12375691 CHSY3 chondroitin sulfate synthase 3 gene DOID:630 genetic disease ISO RGD:1603860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12375691 CHSY3 chondroitin sulfate synthase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12375691 CHSY3 chondroitin sulfate synthase 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603860 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12375702 SMAP2 small ArfGAP2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1601981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12375702 SMAP2 small ArfGAP2 gene DOID:630 genetic disease ISO RGD:1601981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12375724 PLCL2 phospholipase C like 2 gene DOID:0060417 3p deletion syndrome ISO RGD:1314267 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12375724 PLCL2 phospholipase C like 2 gene DOID:5419 schizophrenia ISO RGD:1314267 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12375737 MINPP1 multiple inositol-polyphosphate phosphatase 1 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:733356 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 12375737 MINPP1 multiple inositol-polyphosphate phosphatase 1 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:733356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 12375737 MINPP1 multiple inositol-polyphosphate phosphatase 1 gene DOID:0112333 pontocerebellar hypoplasia type 16 ISO RGD:733356 D RGD:7240710 20211006 OMIM 12375737 MINPP1 multiple inositol-polyphosphate phosphatase 1 gene DOID:0112333 pontocerebellar hypoplasia type 16 ISO RGD:733356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 16 PMID:25741868|PMID:33168985|PMID:33257696 12375737 MINPP1 multiple inositol-polyphosphate phosphatase 1 gene DOID:2891 thyroid adenoma ISO RGD:733356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid adenoma PMID:11297621 12375737 MINPP1 multiple inositol-polyphosphate phosphatase 1 gene DOID:37 skin disease ISO RGD:733356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12375737 MINPP1 multiple inositol-polyphosphate phosphatase 1 gene DOID:630 genetic disease ISO RGD:733356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12375737 MINPP1 multiple inositol-polyphosphate phosphatase 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:733356 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity PMID:11297621|REF_RGD_ID:737769 12375737 MINPP1 multiple inositol-polyphosphate phosphatase 1 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:733356 D RGD:7240710 20180130 OMIM 12375737 MINPP1 multiple inositol-polyphosphate phosphatase 1 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:733356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:11297621 12375737 MINPP1 multiple inositol-polyphosphate phosphatase 1 gene DOID:9007964 Arsenic Poisoning ISO RGD:733356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12375745 PTAFR platelet activating factor receptor gene DOID:10247 pleurisy treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:8395390|REF_RGD_ID:10043147 12375745 PTAFR platelet activating factor receptor gene DOID:11446 sciatic neuropathy ISO RGD:61897 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord, microglia (rat) PMID:22296727|REF_RGD_ID:9999207 12375745 PTAFR platelet activating factor receptor gene DOID:11612 polycystic ovary syndrome ISO RGD:733075 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12375745 PTAFR platelet activating factor receptor gene DOID:1227 neutropenia treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:3011900|REF_RGD_ID:10043179 12375745 PTAFR platelet activating factor receptor gene DOID:224 transient cerebral ischemia ISO RGD:61897 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex (rat) PMID:17268849|REF_RGD_ID:9999221 12375745 PTAFR platelet activating factor receptor gene DOID:224 transient cerebral ischemia treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:8158141|REF_RGD_ID:10043297 12375745 PTAFR platelet activating factor receptor gene DOID:2921 glomerulonephritis treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:1668710|REF_RGD_ID:10041057 12375745 PTAFR platelet activating factor receptor gene DOID:3021 acute kidney failure treatment ISO RGD:61897 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:2538527|REF_RGD_ID:10043182 12375745 PTAFR platelet activating factor receptor gene DOID:6195 conjunctivitis ISO RGD:61897 D RGD:9068941 20200609 RGD protein:increased expression:conjunctiva, eosinophil (rat) PMID:15735601|REF_RGD_ID:9999205 12375745 PTAFR platelet activating factor receptor gene DOID:630 genetic disease ISO RGD:733075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12375745 PTAFR platelet activating factor receptor gene DOID:8677 perinatal necrotizing enterocolitis treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:17515866|REF_RGD_ID:9999208 12375745 PTAFR platelet activating factor receptor gene DOID:8778 Crohn's disease ISO RGD:733075 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 12375745 PTAFR platelet activating factor receptor gene DOID:9000728 Traumatic Shock treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:2165204|REF_RGD_ID:10043180 12375745 PTAFR platelet activating factor receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733075 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12375745 PTAFR platelet activating factor receptor gene DOID:9002211 Hyperalgesia treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:16925995|REF_RGD_ID:10041052 12375745 PTAFR platelet activating factor receptor gene DOID:9002906 Multiple Organ Failure treatment ISO RGD:61897 D RGD:9068941 20200609 RGD associated with Pancreatitis, Experimental PMID:9750012|REF_RGD_ID:10043149 12375745 PTAFR platelet activating factor receptor gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:12356842|REF_RGD_ID:10041062 12375745 PTAFR platelet activating factor receptor gene DOID:9004009 Reperfusion Injury ISO RGD:62190 D RGD:9068941 20200609 RGD PMID:12812996|REF_RGD_ID:1581279 12375745 PTAFR platelet activating factor receptor gene DOID:9004009 Reperfusion Injury treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:11139461|REF_RGD_ID:10043168 12375745 PTAFR platelet activating factor receptor gene DOID:9004590 Acute Liver Failure ISO RGD:61897 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:11414308|REF_RGD_ID:10043144 12375745 PTAFR platelet activating factor receptor gene DOID:9005930 Endotoxemia treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:2178565|REF_RGD_ID:10041063 12375745 PTAFR platelet activating factor receptor gene DOID:9006024 Hypotension treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:3011900|REF_RGD_ID:10043179 12375745 PTAFR platelet activating factor receptor gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:21633536|REF_RGD_ID:9999225 12375745 PTAFR platelet activating factor receptor gene DOID:9008232 Neutrophilia treatment ISO RGD:61897 D RGD:9068941 20200609 RGD associated with Scorpion Stings PMID:10770284|REF_RGD_ID:10043145 12375745 PTAFR platelet activating factor receptor gene DOID:9008821 Otitis Media with Effusion treatment ISO RGD:8944602 D RGD:9068941 20200609 RGD PMID:14759570|REF_RGD_ID:11554333 12375763 TNFRSF25 TNF receptor superfamily member 25 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1312746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12375763 TNFRSF25 TNF receptor superfamily member 25 gene DOID:0111213 distal spinal muscular atrophy type 4 ISO RGD:1312746 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive lower motor neuron disease with childhood onset 12375763 TNFRSF25 TNF receptor superfamily member 25 gene DOID:12377 spinal muscular atrophy ISO RGD:1312746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy 12375763 TNFRSF25 TNF receptor superfamily member 25 gene DOID:630 genetic disease ISO RGD:1312746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12375763 TNFRSF25 TNF receptor superfamily member 25 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12375781 LRRC40 leucine rich repeat containing 40 gene DOID:1059 intellectual disability ISO RGD:1601993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12375781 LRRC40 leucine rich repeat containing 40 gene DOID:630 genetic disease ISO RGD:1601993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12375801 TMEM229B transmembrane protein 229B gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1348278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 12375801 TMEM229B transmembrane protein 229B gene DOID:630 genetic disease ISO RGD:1348278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12375852 JAG2 jagged canonical Notch ligand 2 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:733495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12375852 JAG2 jagged canonical Notch ligand 2 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:733495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 12375852 JAG2 jagged canonical Notch ligand 2 gene DOID:11193 syndactyly ISO RGD:733495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9531541 12375852 JAG2 jagged canonical Notch ligand 2 gene DOID:3068 glioblastoma ISO RGD:733495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 12375852 JAG2 jagged canonical Notch ligand 2 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:733495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20038814 12375852 JAG2 jagged canonical Notch ligand 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:733495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 12375852 JAG2 jagged canonical Notch ligand 2 gene DOID:630 genetic disease ISO RGD:733495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12375852 JAG2 jagged canonical Notch ligand 2 gene DOID:9005234 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 27 ISO RGD:733495 D RGD:7240710 20211110 OMIM 12375852 JAG2 jagged canonical Notch ligand 2 gene DOID:9005234 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 27 ISO RGD:733495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 27 PMID:25741868|PMID:28492532|PMID:33861953 12375852 JAG2 jagged canonical Notch ligand 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9531541 12375852 JAG2 jagged canonical Notch ligand 2 gene DOID:9008939 Breast Neoplasms ISO RGD:733495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 12375880 PRRG1 proline rich and Gla domain 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12375880 PRRG1 proline rich and Gla domain 1 gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1350141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 12375880 PRRG1 proline rich and Gla domain 1 gene DOID:12849 autistic disorder ISO RGD:1350141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12375880 PRRG1 proline rich and Gla domain 1 gene DOID:630 genetic disease ISO RGD:1350141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12375880 PRRG1 proline rich and Gla domain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12375880 PRRG1 proline rich and Gla domain 1 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1350141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 12375915 HPX hemopexin gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:737150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12375915 HPX hemopexin gene DOID:3021 acute kidney failure ISO RGD:737150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12375915 HPX hemopexin gene DOID:417 autoimmune disease ISO RGD:737150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18641331 12375915 HPX hemopexin gene DOID:630 genetic disease ISO RGD:737150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12375915 HPX hemopexin gene DOID:682 compartment syndrome ISO RGD:737150 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14500188 12375915 HPX hemopexin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12375915 HPX hemopexin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 12375915 HPX hemopexin gene DOID:9352 type 2 diabetes mellitus ISO RGD:737150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16506275 12375946 LOC100688918 putative inactive serine protease 58 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1344751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12375946 LOC100688918 putative inactive serine protease 58 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1344751 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12375946 LOC100688918 putative inactive serine protease 58 gene DOID:1826 epilepsy ISO RGD:1344751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12375946 LOC100688918 putative inactive serine protease 58 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12375946 LOC100688918 putative inactive serine protease 58 gene DOID:630 genetic disease ISO RGD:1344751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376029 RAB10 RAB10, member RAS oncogene family gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:735722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12376029 RAB10 RAB10, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:735722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376039 GNL1 G protein nucleolar 1 (putative) gene DOID:11372 megacolon ISO RGD:1352530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12376039 GNL1 G protein nucleolar 1 (putative) gene DOID:630 genetic disease ISO RGD:1352530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376055 HCFC2 host cell factor C2 gene DOID:630 genetic disease ISO RGD:1316555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376074 TNNT1 troponin T1, slow skeletal type gene DOID:0050700 cardiomyopathy ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 12376074 TNNT1 troponin T1, slow skeletal type gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 12376074 TNNT1 troponin T1, slow skeletal type gene DOID:0110313 hypertrophic cardiomyopathy 7 ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 PMID:24033266|PMID:25741868|PMID:28492532 12376074 TNNT1 troponin T1, slow skeletal type gene DOID:0110460 dilated cardiomyopathy 2A ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 2A PMID:24033266|PMID:25741868|PMID:28492532 12376074 TNNT1 troponin T1, slow skeletal type gene DOID:0110936 nemaline myopathy 5 ISO RGD:733051 D RGD:7240710 20180130 OMIM 12376074 TNNT1 troponin T1, slow skeletal type gene DOID:0110936 nemaline myopathy 5 ISO RGD:733051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5 PMID:10952871|PMID:12732643|PMID:15665378|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20301465|PMID:24033266|PMID:24689076|PMID:25430424|PMID:25712079|PMID:25741868|PMID:26296490|PMID:26467025|PMID:27429059|PMID:27790152|PMID:28492532|PMID:29178646|PMID:9536098 12376074 TNNT1 troponin T1, slow skeletal type gene DOID:0111425 restrictive cardiomyopathy 1 ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 PMID:24033266|PMID:25741868|PMID:28492532 12376074 TNNT1 troponin T1, slow skeletal type gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532 12376074 TNNT1 troponin T1, slow skeletal type gene DOID:12930 dilated cardiomyopathy ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532 12376074 TNNT1 troponin T1, slow skeletal type gene DOID:3191 nemaline myopathy ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Recessive PMID:24033266|PMID:25741868|PMID:28492532 12376074 TNNT1 troponin T1, slow skeletal type gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532 12376074 TNNT1 troponin T1, slow skeletal type gene DOID:397 restrictive cardiomyopathy ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532 12376074 TNNT1 troponin T1, slow skeletal type gene DOID:423 myopathy ISO RGD:733051 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Myopathy 12376074 TNNT1 troponin T1, slow skeletal type gene DOID:630 genetic disease ISO RGD:733051 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10952871|PMID:12732643|PMID:17576681|PMID:24689076|PMID:25430424|PMID:25712079|PMID:25741868|PMID:26296490|PMID:27790152|PMID:28492532|PMID:9536098 12376074 TNNT1 troponin T1, slow skeletal type gene DOID:9562 primary ciliary dyskinesia ISO RGD:733051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:22387996|PMID:24033266|PMID:25741868|PMID:28492532 12376093 TRAFD1 TRAF-type zinc finger domain containing 1 gene DOID:630 genetic disease ISO RGD:1605702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376093 TRAFD1 TRAF-type zinc finger domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12376109 GCN1 GCN1 activator of EIF2AK4 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1312843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12376109 GCN1 GCN1 activator of EIF2AK4 gene DOID:630 genetic disease ISO RGD:1312843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376170 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:0050439 Usher syndrome ISO RGD:1604336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 12376170 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1604336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12376170 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:1540 parathyroid carcinoma ISO RGD:1604336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12376170 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:3652 Leigh disease ISO RGD:1604336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25130867|PMID:25741868|PMID:28492532 12376170 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:5119 ovarian cyst ISO RGD:1604336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12376170 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:574 peripheral nervous system disease ISO RGD:1604336 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25130867|PMID:8409271 12376170 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1604336 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29410512 12376170 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:83 cataract ISO RGD:1604336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract PMID:25130867|PMID:25741868|PMID:8409271 12376170 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:870 neuropathy ISO RGD:1604336 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25130867|PMID:8409271 12376170 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1604336 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25130867|PMID:25741868|PMID:28492532 12376170 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:9004880 CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA ISO RGD:1604336 D RGD:7240710 20180130 OMIM 12376170 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:9004880 CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA ISO RGD:1604336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia PMID:25130867|PMID:25741868|PMID:28328135|PMID:28492532|PMID:30041933|PMID:30419932|PMID:8409271 12376170 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:9006949 Martsolf Syndrome ISO RGD:1604336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 12376170 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12376196 ZW10 zw10 kinetochore protein gene DOID:1059 intellectual disability ISO RGD:1319405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12376196 ZW10 zw10 kinetochore protein gene DOID:3347 osteosarcoma ISO RGD:1319405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14767549 12376196 ZW10 zw10 kinetochore protein gene DOID:630 genetic disease ISO RGD:1319405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376196 ZW10 zw10 kinetochore protein gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1319405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12376216 BAZ1A bromodomain adjacent to zinc finger domain 1A gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:1314679 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:28492532 12376216 BAZ1A bromodomain adjacent to zinc finger domain 1A gene DOID:0111766 X-linked VACTERL association ISO RGD:1314679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations 12376216 BAZ1A bromodomain adjacent to zinc finger domain 1A gene DOID:630 genetic disease ISO RGD:1314679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376216 BAZ1A bromodomain adjacent to zinc finger domain 1A gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314679 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12376260 RNFT1 ring finger protein, transmembrane 1 gene DOID:0050777 Joubert syndrome ISO RGD:1606007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12376260 RNFT1 ring finger protein, transmembrane 1 gene DOID:630 genetic disease ISO RGD:1606007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376274 C9orf72 C9orf72-SMCR8 complex subunit gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1602828 D RGD:7240710 20180130 OMIM 12376274 C9orf72 C9orf72-SMCR8 complex subunit gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1602828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:25741868|PMID:28492532 12376274 C9orf72 C9orf72-SMCR8 complex subunit gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1602828 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:25442110|PMID:27713094|PMID:28122516|PMID:28478440|PMID:28973294 12376274 C9orf72 C9orf72-SMCR8 complex subunit gene DOID:417 autoimmune disease ISO RGD:1620759 D RGD:9068941 20220825 MouseDO OMIM:109100 | OMIM:607836 | OMIM:613551 12376274 C9orf72 C9orf72-SMCR8 complex subunit gene DOID:5614 eye disease ISO RGD:1602828 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33661518 12376274 C9orf72 C9orf72-SMCR8 complex subunit gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1602828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12376274 C9orf72 C9orf72-SMCR8 complex subunit gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1602828 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:25442110|PMID:27713094 12376274 C9orf72 C9orf72-SMCR8 complex subunit gene DOID:9002955 Nerve Degeneration ISO RGD:1602828 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33661518 12376274 C9orf72 C9orf72-SMCR8 complex subunit gene DOID:9003713 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis ISO RGD:1602828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis/Frontotemporal Dementia 12376291 FBLN7 fibulin 7 gene DOID:630 genetic disease ISO RGD:1601826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376303 GPR89A G protein-coupled receptor 89A gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1642209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 12376303 GPR89A G protein-coupled receptor 89A gene DOID:1540 parathyroid carcinoma ISO RGD:1642209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12376303 GPR89A G protein-coupled receptor 89A gene DOID:5419 schizophrenia ISO RGD:1642209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12376303 GPR89A G protein-coupled receptor 89A gene DOID:630 genetic disease ISO RGD:1642209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376303 GPR89A G protein-coupled receptor 89A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1642209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12376325 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1318101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12376325 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1318101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12376325 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1318101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12376325 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:10283 prostate cancer ISO RGD:1318101 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland (human) PMID:24556744|REF_RGD_ID:9590161 12376325 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:1206 Rett syndrome severity ISO RGD:1558610 D RGD:9068941 20200609 RGD PMID:20869373|REF_RGD_ID:9590158 12376325 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:12849 autistic disorder susceptibility ISO RGD:1318101 D RGD:9068941 20200609 RGD DNA:missense mutation, deletion:cds:p.P529L, p.P1067del (human) PMID:23055267|REF_RGD_ID:9590163 12376325 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:12858 Huntington's disease ISO RGD:1318101 D RGD:9068941 20200609 RGD protein:increased expression:neocortex, caudate nucleus (human) PMID:17142323|REF_RGD_ID:9590159 12376325 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:1324 lung cancer severity ISO RGD:1318101 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:23770855|REF_RGD_ID:9590160 12376325 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1318101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12376325 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:1790 malignant mesothelioma ISO RGD:1318101 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 12376325 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:1909 melanoma ISO RGD:1318101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983785 12376325 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:1909 melanoma severity ISO RGD:1318101 D RGD:9068941 20200609 RGD protein:increased expression:dermis, subcutis, nucleus (human) PMID:24673285|REF_RGD_ID:9590162 12376325 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:3070 high grade glioma severity ISO RGD:1318101 D RGD:9068941 20200609 RGD protein:increased expression:brain, cell nucleus (human) PMID:23943221|REF_RGD_ID:9590166 12376325 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1318101 D RGD:9068941 20200609 RGD mRNA:increased expression:parietal cortex, lymphocyte (human) PMID:23815974|REF_RGD_ID:9590164 12376325 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:5812 MHC class II deficiency ISO RGD:1318101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12376325 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1318101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376325 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12376325 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12376356 SCAF1 SR-related CTD associated factor 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12376356 SCAF1 SR-related CTD associated factor 1 gene DOID:12849 autistic disorder ISO RGD:733391 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:35982159 12376356 SCAF1 SR-related CTD associated factor 1 gene DOID:630 genetic disease ISO RGD:733391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376371 CCDC122 coiled-coil domain containing 122 gene DOID:1024 leprosy ISO RGD:1602063 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 PMID:25741868 12376371 CCDC122 coiled-coil domain containing 122 gene DOID:630 genetic disease ISO RGD:1602063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376371 CCDC122 coiled-coil domain containing 122 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1602063 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: JUVENILE ARTHRITIS PMID:25741868 12376381 LNX2 ligand of numb-protein X 2 gene DOID:630 genetic disease ISO RGD:1317872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376405 ESPNL espin like gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1602816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12376405 ESPNL espin like gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1602816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12376405 ESPNL espin like gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1602816 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12376405 ESPNL espin like gene DOID:1059 intellectual disability ISO RGD:1602816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12376405 ESPNL espin like gene DOID:630 genetic disease ISO RGD:1602816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376405 ESPNL espin like gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1602816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12376416 VWA5A von Willebrand factor A domain containing 5A gene DOID:0110877 holoprosencephaly 11 ISO RGD:1323359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12376416 VWA5A von Willebrand factor A domain containing 5A gene DOID:5419 schizophrenia ISO RGD:1323359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12376416 VWA5A von Willebrand factor A domain containing 5A gene DOID:630 genetic disease ISO RGD:1323359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376416 VWA5A von Willebrand factor A domain containing 5A gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1323359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12376416 VWA5A von Willebrand factor A domain containing 5A gene DOID:9007661 Dwarfism ISO RGD:1323359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12376455 PDP2 pyruvate dehydrogenase phosphatase catalytic subunit 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1603017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12376455 PDP2 pyruvate dehydrogenase phosphatase catalytic subunit 2 gene DOID:0110255 cataract 5 multiple types ISO RGD:1603017 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 12376455 PDP2 pyruvate dehydrogenase phosphatase catalytic subunit 2 gene DOID:10283 prostate cancer ISO RGD:1603017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12376455 PDP2 pyruvate dehydrogenase phosphatase catalytic subunit 2 gene DOID:630 genetic disease ISO RGD:1603017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376455 PDP2 pyruvate dehydrogenase phosphatase catalytic subunit 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628812 D RGD:9068941 20210219 RGD PMID:12765946|REF_RGD_ID:1582364 12376465 MAP3K9 mitogen-activated protein kinase kinase kinase 9 gene DOID:1909 melanoma ISO RGD:1352186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22197930 12376465 MAP3K9 mitogen-activated protein kinase kinase kinase 9 gene DOID:630 genetic disease ISO RGD:1352186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376481 IRF9 interferon regulatory factor 9 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1318730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12376481 IRF9 interferon regulatory factor 9 gene DOID:0111978 immunodeficiency 65 ISO RGD:1318730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 65, susceptibility to viral infections PMID:30143481|PMID:30826365 12376481 IRF9 interferon regulatory factor 9 gene DOID:0111978 immunodeficiency 65 susceptibility ISO RGD:1318730 D RGD:7240710 20191127 OMIM 12376481 IRF9 interferon regulatory factor 9 gene DOID:1168 familial hyperlipidemia ISO RGD:1308766 D RGD:9068941 20210402 RGD associated with acute pancreatitis;protein:increased expression:kidney PMID:32462510|REF_RGD_ID:125093744 12376481 IRF9 interferon regulatory factor 9 gene DOID:11984 hypertrophic cardiomyopathy ameliorates ISO RGD:1318731 D RGD:9068941 20210402 RGD PMID:24144649|REF_RGD_ID:125093743 12376481 IRF9 interferon regulatory factor 9 gene DOID:11984 hypertrophic cardiomyopathy exacerbates ISO RGD:1318731 D RGD:9068941 20210402 RGD PMID:24144649|REF_RGD_ID:125093743 12376481 IRF9 interferon regulatory factor 9 gene DOID:12155 lymphocytic choriomeningitis ISO RGD:732185 D RGD:9068941 20210326 RGD PMID:24760883|REF_RGD_ID:124715479 12376481 IRF9 interferon regulatory factor 9 gene DOID:12155 lymphocytic choriomeningitis ameliorates ISO RGD:1318731 D RGD:9068941 20210326 RGD PMID:22496215|REF_RGD_ID:124715469 12376481 IRF9 interferon regulatory factor 9 gene DOID:12155 lymphocytic choriomeningitis disease_progression ISO RGD:1318731 D RGD:9068941 20210326 RGD DNA:mutation: : PMID:28878077|REF_RGD_ID:124715467 12376481 IRF9 interferon regulatory factor 9 gene DOID:1883 hepatitis C ISO RGD:1318730 D RGD:9068941 20210326 RGD protein:increased expression:liver PMID:26216956|REF_RGD_ID:11074283 12376481 IRF9 interferon regulatory factor 9 gene DOID:2913 acute pancreatitis ISO RGD:1308766 D RGD:9068941 20210402 RGD mRNA,protein:increased expression:kidney PMID:32462510|REF_RGD_ID:125093744 12376481 IRF9 interferon regulatory factor 9 gene DOID:630 genetic disease ISO RGD:1318730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12376481 IRF9 interferon regulatory factor 9 gene DOID:8704 genital herpes exacerbates ISO RGD:1318731 D RGD:9068941 20210402 RGD PMID:28264883|REF_RGD_ID:125093738 12376481 IRF9 interferon regulatory factor 9 gene DOID:9000099 Experimental Colitis ameliorates ISO RGD:1318731 D RGD:9068941 20210326 RGD PMID:25918247|REF_RGD_ID:124715468 12376481 IRF9 interferon regulatory factor 9 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1318730 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12376481 IRF9 interferon regulatory factor 9 gene DOID:9000438 Subarachnoid Hemorrhage ameliorates ISO RGD:1308766 D RGD:9068941 20210402 RGD PMID:29480757|REF_RGD_ID:125093745 12376481 IRF9 interferon regulatory factor 9 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1318730 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12376481 IRF9 interferon regulatory factor 9 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1318730 D RGD:9068941 20210402 RGD protein:increased expression:left ventricular free wall PMID:25150882|REF_RGD_ID:125093742 12376481 IRF9 interferon regulatory factor 9 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:1318731 D RGD:9068941 20210402 RGD PMID:25150882|REF_RGD_ID:125093742 12376481 IRF9 interferon regulatory factor 9 gene DOID:9007838 Myocardial Reperfusion Injury exacerbates ISO RGD:1318731 D RGD:9068941 20210402 RGD PMID:25150882|REF_RGD_ID:125093742 12376495 OGFOD3 2-oxoglutarate and iron dependent oxygenase domain containing 3 gene DOID:630 genetic disease ISO RGD:1602867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376496 KCNV2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:0050795 cone dystrophy ISO RGD:1319524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy | ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY PMID:16909397|PMID:18235024|PMID:23885164|PMID:25741868|PMID:28492532 12376496 KCNV2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:0050817 Stargardt disease ISO RGD:1319524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:18235024|PMID:30718709|PMID:8333273 12376496 KCNV2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1319524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12376496 KCNV2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:1319524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy 3 PMID:23885164|PMID:25741868|PMID:28492532 12376496 KCNV2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:0081022 retinal cone dystrophy 3B ISO RGD:1319524 D RGD:7240710 20180130 OMIM 12376496 KCNV2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:0081022 retinal cone dystrophy 3B ISO RGD:1319524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES | ClinVar Annotator: match by term: Cone dystrophy with night blindness and supernormal rod responses KCNV2 related | ClinVar Annotator: match by term: Retinal cone dystrophy 3B | ClinVar Annotator: match by term: cone dystrophy with supernormal rod electroretinogram PMID:16909397|PMID:17896311|PMID:18235024|PMID:18400204|PMID:21402906|PMID:21558291|PMID:21882291|PMID:21911584|PMID:22264887|PMID:23077521|PMID:23115240|PMID:23143909|PMID:23725738|PMID:23885164|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31456290|PMID:31960170|PMID:33546218|PMID:8333273 12376496 KCNV2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1319524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:25741868 12376496 KCNV2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:630 genetic disease ISO RGD:1319524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26992781|PMID:28492532|PMID:33090715 12376496 KCNV2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:8501 fundus dystrophy ISO RGD:1319524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16909397|PMID:17896311|PMID:18235024|PMID:18400204|PMID:21558291|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28041643|PMID:28492532|PMID:33309813|PMID:33546218 12376496 KCNV2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1319524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:17896311|PMID:18235024|PMID:18400204|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28492532|PMID:33546218 12376496 KCNV2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1319524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus PMID:18235024|PMID:30718709|PMID:8333273 12376496 KCNV2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:9650 pathologic nystagmus ISO RGD:1319524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:17896311|PMID:18235024|PMID:18400204|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28492532|PMID:33546218 12376502 DPH3 diphthamide biosynthesis 3 gene DOID:0060417 3p deletion syndrome ISO RGD:1346924 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12376502 DPH3 diphthamide biosynthesis 3 gene DOID:630 genetic disease ISO RGD:1346924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376529 MED19 mediator complex subunit 19 gene DOID:1059 intellectual disability ISO RGD:1344644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12376529 MED19 mediator complex subunit 19 gene DOID:630 genetic disease ISO RGD:1344644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376540 DSPP dentin sialophosphoprotein gene DOID:11476 osteoporosis ISO RGD:2525 D RGD:9068941 20200609 RGD protein:decreased expression:incisor dental pulp (rat) PMID:23974864|REF_RGD_ID:12911019 12376540 DSPP dentin sialophosphoprotein gene DOID:1324 lung cancer ISO RGD:69028 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:26467025 12376540 DSPP dentin sialophosphoprotein gene DOID:1749 squamous cell carcinoma ISO RGD:69028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21103065 12376540 DSPP dentin sialophosphoprotein gene DOID:3388 periodontal disease ISO RGD:10493 D RGD:9068941 20220825 MouseDO 12376540 DSPP dentin sialophosphoprotein gene DOID:4154 dentinogenesis imperfecta ISO RGD:69028 D RGD:7240710 20180130 OMIM 12376540 DSPP dentin sialophosphoprotein gene DOID:4154 dentinogenesis imperfecta ISO RGD:69028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Capdepont teeth | ClinVar Annotator: match by term: Dentinogenesis imperfecta | ClinVar Annotator: match by term: Hereditary Opalescent Dentin | ClinVar Annotator: match by term: Opalescent dentin PMID:11175779|PMID:11175790|PMID:14758537|PMID:15592686|PMID:16199547|PMID:18456718|PMID:19131317|PMID:21736673|PMID:22243242|PMID:22392858|PMID:25741868|PMID:27993330|PMID:28492532 12376540 DSPP dentin sialophosphoprotein gene DOID:5409 lung small cell carcinoma ISO RGD:69028 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 12376540 DSPP dentin sialophosphoprotein gene DOID:5608 dental pulp calcification ISO RGD:69028 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Denticles | ClinVar Annotator: match by term: Pulpal dysplasia PMID:12354781|PMID:18456718|PMID:25741868|PMID:26788535|PMID:28492532 12376540 DSPP dentin sialophosphoprotein gene DOID:630 genetic disease ISO RGD:69028 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12376540 DSPP dentin sialophosphoprotein gene DOID:684 hepatocellular carcinoma ISO RGD:69028 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 12376540 DSPP dentin sialophosphoprotein gene DOID:701 dentin dysplasia ISO RGD:69028 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANOMALOUS DYSPLASIA OF DENTIN PMID:25741868|PMID:28492532 12376540 DSPP dentin sialophosphoprotein gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:69028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12376540 DSPP dentin sialophosphoprotein gene DOID:9003089 Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 ISO RGD:69028 D RGD:7240710 20180130 OMIM 12376540 DSPP dentin sialophosphoprotein gene DOID:9003089 Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 ISO RGD:69028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 PMID:11175790|PMID:15592686|PMID:22392858|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386 12376540 DSPP dentin sialophosphoprotein gene DOID:9004538 Hearing Loss ISO RGD:69028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868 12376540 DSPP dentin sialophosphoprotein gene DOID:9004572 Dentinogenesis Imperfecta, Shields Type 3 ISO RGD:69028 D RGD:7240710 20180130 OMIM 12376540 DSPP dentin sialophosphoprotein gene DOID:9004572 Dentinogenesis Imperfecta, Shields Type 3 ISO RGD:69028 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brandywine type dentinogenesis imperfecta PMID:11175790|PMID:15592686|PMID:22392858|PMID:25741868|PMID:28492532 12376540 DSPP dentin sialophosphoprotein gene DOID:9007364 Mouth Neoplasms ISO RGD:69028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21103065 12376540 DSPP dentin sialophosphoprotein gene DOID:9008389 Dentin Dysplasia, Type 2 ISO RGD:69028 D RGD:7240710 20180130 OMIM 12376540 DSPP dentin sialophosphoprotein gene DOID:9008389 Dentin Dysplasia, Type 2 ISO RGD:69028 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: DENTIN DYSPLASIA, TYPE II PMID:25741868|PMID:28492532 12376553 SLN sarcolipin gene DOID:1059 intellectual disability ISO RGD:1313124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12376553 SLN sarcolipin gene DOID:12704 ataxia telangiectasia ISO RGD:1313124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12376553 SLN sarcolipin gene DOID:630 genetic disease ISO RGD:1313124 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376553 SLN sarcolipin gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1313124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12376609 LOC102154691 short transmembrane mitochondrial protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:5480038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12376683 GNAT1 G protein subunit alpha transducin 1 gene DOID:0050534 congenital stationary night blindness ISO RGD:1312271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant 12376683 GNAT1 G protein subunit alpha transducin 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12376683 GNAT1 G protein subunit alpha transducin 1 gene DOID:0110714 congenital stationary night blindness 1G ISO RGD:1312271 D RGD:7240710 20180130 OMIM 12376683 GNAT1 G protein subunit alpha transducin 1 gene DOID:0110714 congenital stationary night blindness 1G ISO RGD:1312271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1G PMID:11095744|PMID:22190596|PMID:25741868|PMID:26472407|PMID:27624628|PMID:28492532|PMID:31736247 12376683 GNAT1 G protein subunit alpha transducin 1 gene DOID:0110715 congenital stationary night blindness autosomal dominant 3 ISO RGD:1312271 D RGD:7240710 20180130 OMIM 12376683 GNAT1 G protein subunit alpha transducin 1 gene DOID:0110715 congenital stationary night blindness autosomal dominant 3 ISO RGD:1312271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 3 PMID:11095744|PMID:17584859|PMID:25741868|PMID:26472407|PMID:27624628|PMID:28492532|PMID:31736247|PMID:8673138 12376683 GNAT1 G protein subunit alpha transducin 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12376683 GNAT1 G protein subunit alpha transducin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1312271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:30718709 12376683 GNAT1 G protein subunit alpha transducin 1 gene DOID:630 genetic disease ISO RGD:1312271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12376683 GNAT1 G protein subunit alpha transducin 1 gene DOID:8499 night blindness ISO RGD:1312271 D RGD:9068941 20200609 RGD PMID:8673138|REF_RGD_ID:1599006 12376683 GNAT1 G protein subunit alpha transducin 1 gene DOID:8501 fundus dystrophy ISO RGD:1312271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 12376683 GNAT1 G protein subunit alpha transducin 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1312271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12376683 GNAT1 G protein subunit alpha transducin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1304683 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:15939031|REF_RGD_ID:1600001 12376683 GNAT1 G protein subunit alpha transducin 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1312271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12376701 ST7 suppression of tumorigenicity 7 gene DOID:4450 renal cell carcinoma ISO RGD:1343912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:28492532 12376701 ST7 suppression of tumorigenicity 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12376701 ST7 suppression of tumorigenicity 7 gene DOID:630 genetic disease ISO RGD:1343912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376701 ST7 suppression of tumorigenicity 7 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1343912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:28492532 12376701 ST7 suppression of tumorigenicity 7 gene DOID:9008086 Developmental Disabilities ISO RGD:1343912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 12376758 NAA40 N-alpha-acetyltransferase 40, NatD catalytic subunit gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12376758 NAA40 N-alpha-acetyltransferase 40, NatD catalytic subunit gene DOID:1059 intellectual disability ISO RGD:1602685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12376758 NAA40 N-alpha-acetyltransferase 40, NatD catalytic subunit gene DOID:3070 high grade glioma ISO RGD:1602685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12376758 NAA40 N-alpha-acetyltransferase 40, NatD catalytic subunit gene DOID:630 genetic disease ISO RGD:1602685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376776 CHCHD4 coiled-coil-helix-coiled-coil-helix domain containing 4 gene DOID:0060417 3p deletion syndrome ISO RGD:1321831 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12376776 CHCHD4 coiled-coil-helix-coiled-coil-helix domain containing 4 gene DOID:630 genetic disease ISO RGD:1321831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376783 NUP153 nucleoporin 153 gene DOID:630 genetic disease ISO RGD:731840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376783 NUP153 nucleoporin 153 gene DOID:9007098 Pulmonary Atresia ISO RGD:731840 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 12376809 GRM6 glutamate metabotropic receptor 6 gene DOID:0050534 congenital stationary night blindness ISO RGD:70075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:15781871|PMID:16249515|PMID:16622103|PMID:17405131|PMID:19666700|PMID:22008250|PMID:24715752|PMID:26628857|PMID:28041643|PMID:28492532|PMID:30718709 12376809 GRM6 glutamate metabotropic receptor 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:70075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12376809 GRM6 glutamate metabotropic receptor 6 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:70075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 12376809 GRM6 glutamate metabotropic receptor 6 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:70075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12376809 GRM6 glutamate metabotropic receptor 6 gene DOID:0110865 congenital stationary night blindness 1B ISO RGD:70075 D RGD:7240710 20180130 OMIM 12376809 GRM6 glutamate metabotropic receptor 6 gene DOID:0110865 congenital stationary night blindness 1B ISO RGD:70075 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1B PMID:11874764|PMID:15781871|PMID:16249515|PMID:16622103|PMID:17405131|PMID:19578023|PMID:19666700|PMID:19862333|PMID:22008250|PMID:22735794|PMID:25307992|PMID:25741868|PMID:26628857|PMID:26667666|PMID:28041643|PMID:28492532|PMID:30718709 12376809 GRM6 glutamate metabotropic receptor 6 gene DOID:0112103 Sotos syndrome 1 ISO RGD:70075 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12376809 GRM6 glutamate metabotropic receptor 6 gene DOID:14791 Leber congenital amaurosis ISO RGD:70075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:11874764|PMID:15781871|PMID:16622103|PMID:22008250|PMID:25741868|PMID:28492532|PMID:30718709 12376809 GRM6 glutamate metabotropic receptor 6 gene DOID:630 genetic disease ISO RGD:70075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12376809 GRM6 glutamate metabotropic receptor 6 gene DOID:8501 fundus dystrophy ISO RGD:70075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11874764|PMID:15781871|PMID:16622103|PMID:19862333|PMID:22008250|PMID:22735794|PMID:25741868|PMID:28492532|PMID:30718709 12376822 LRRTM2 leucine rich repeat transmembrane neuronal 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1345909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12376822 LRRTM2 leucine rich repeat transmembrane neuronal 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1345909 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12376822 LRRTM2 leucine rich repeat transmembrane neuronal 2 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1345909 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12376822 LRRTM2 leucine rich repeat transmembrane neuronal 2 gene DOID:630 genetic disease ISO RGD:1345909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376822 LRRTM2 leucine rich repeat transmembrane neuronal 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12376822 LRRTM2 leucine rich repeat transmembrane neuronal 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345909 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12376828 FGR FGR proto-oncogene, Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:733253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376828 FGR FGR proto-oncogene, Src family tyrosine kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733253 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12376845 EXOSC6 exosome component 6 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1320385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12376845 EXOSC6 exosome component 6 gene DOID:630 genetic disease ISO RGD:1320385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376850 MAGT1 magnesium transporter 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12376850 MAGT1 magnesium transporter 1 gene DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ISO RGD:731507 D RGD:7240710 20180130 OMIM 12376850 MAGT1 magnesium transporter 1 gene DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ISO RGD:731507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia PMID:16199547|PMID:17576681|PMID:21796205|PMID:24550228|PMID:25135935|PMID:25504528|PMID:25741868|PMID:25956530|PMID:26422833|PMID:27770395|PMID:28353193|PMID:28492532|PMID:31036665|PMID:32499645|PMID:32581362|PMID:33831577|PMID:9536098 12376850 MAGT1 magnesium transporter 1 gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:731507 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome PMID:28492532 12376850 MAGT1 magnesium transporter 1 gene DOID:0111839 congenital disorder of glycosylation Icc ISO RGD:731507 D RGD:7240710 20190911 OMIM 12376850 MAGT1 magnesium transporter 1 gene DOID:0111839 congenital disorder of glycosylation Icc ISO RGD:731507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type ICC PMID:24550228|PMID:25135935|PMID:25741868|PMID:28492532|PMID:31036665 12376850 MAGT1 magnesium transporter 1 gene DOID:12849 autistic disorder ISO RGD:731507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12376850 MAGT1 magnesium transporter 1 gene DOID:1838 Menkes disease ISO RGD:731507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:28492532 12376850 MAGT1 magnesium transporter 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:731507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:24550228|PMID:25135935|PMID:25741868|PMID:28492532|PMID:31036665 12376850 MAGT1 magnesium transporter 1 gene DOID:612 primary immunodeficiency disease ISO RGD:731507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:32499645|PMID:32581362|PMID:9536098 12376850 MAGT1 magnesium transporter 1 gene DOID:630 genetic disease ISO RGD:731507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12376869 NOP10 NOP10 ribonucleoprotein gene DOID:0070015 autosomal recessive dyskeratosis congenita 1 ISO RGD:1353461 D RGD:7240710 20180418 OMIM 12376869 NOP10 NOP10 ribonucleoprotein gene DOID:0070015 autosomal recessive dyskeratosis congenita 1 ISO RGD:1353461 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 PMID:17507419|PMID:20301779|PMID:24033266|PMID:25741868|PMID:28492532 12376869 NOP10 NOP10 ribonucleoprotein gene DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy ISO RGD:1353461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy 12376869 NOP10 NOP10 ribonucleoprotein gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:1353461 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 PMID:18458017|PMID:27125413|PMID:28492532 12376869 NOP10 NOP10 ribonucleoprotein gene DOID:2717 Bloom syndrome ISO RGD:1353461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12376869 NOP10 NOP10 ribonucleoprotein gene DOID:2729 dyskeratosis congenita ISO RGD:1353461 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:24033266|PMID:25741868|PMID:28492532 12376869 NOP10 NOP10 ribonucleoprotein gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:1353461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive 12376869 NOP10 NOP10 ribonucleoprotein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353461 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 12376869 NOP10 NOP10 ribonucleoprotein gene DOID:9256 colorectal cancer ISO RGD:1353461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12376875 KRT35 keratin 35 gene DOID:630 genetic disease ISO RGD:1354440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376886 KCTD2 potassium channel tetramerization domain containing 2 gene DOID:630 genetic disease ISO RGD:1348745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376896 MXD1 MAX dimerization protein 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1353608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 12376896 MXD1 MAX dimerization protein 1 gene DOID:630 genetic disease ISO RGD:1353608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376909 MS4A15 membrane spanning 4-domains A15 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12376909 MS4A15 membrane spanning 4-domains A15 gene DOID:1059 intellectual disability ISO RGD:1603162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12376909 MS4A15 membrane spanning 4-domains A15 gene DOID:630 genetic disease ISO RGD:1603162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376928 FZD5 frizzled class receptor 5 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1345907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex 12376928 FZD5 frizzled class receptor 5 gene DOID:0080600 COVID-19 ISO RGD:1345907 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12376928 FZD5 frizzled class receptor 5 gene DOID:12270 coloboma ISO RGD:1345907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:25741868|PMID:26908622 12376928 FZD5 frizzled class receptor 5 gene DOID:14557 primary pulmonary hypertension ISO RGD:1345907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12376928 FZD5 frizzled class receptor 5 gene DOID:630 genetic disease ISO RGD:1345907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12376928 FZD5 frizzled class receptor 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12376933 C2CD5 C2 calcium dependent domain containing 5 gene DOID:630 genetic disease ISO RGD:736134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377005 CFAP97D2 CFAP97 domain containing 2 gene DOID:2222 factor X deficiency ISO RGD:13463569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12377039 EEF1AKMT2 EEF1A lysine methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1604914 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377078 JAK1 Janus kinase 1 gene DOID:0080162 lupus nephritis ISO RGD:69102 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:31182691 12377078 JAK1 Janus kinase 1 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:69102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:27993330 12377078 JAK1 Janus kinase 1 gene DOID:10283 prostate cancer severity ISO RGD:69102 D RGD:9068941 20211203 RGD DNA:frameshift mutations PMID:29121062|REF_RGD_ID:150524355 12377078 JAK1 Janus kinase 1 gene DOID:10534 stomach cancer ISO RGD:69102 D RGD:9068941 20211203 RGD DNA:SNP: :rs2230587A (human) PMID:27049718|REF_RGD_ID:14975290 12377078 JAK1 Janus kinase 1 gene DOID:10534 stomach cancer severity ISO RGD:69102 D RGD:9068941 20211203 RGD DNA:frameshift mutations PMID:29121062|REF_RGD_ID:150524355 12377078 JAK1 Janus kinase 1 gene DOID:1059 intellectual disability ISO RGD:69102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12377078 JAK1 Janus kinase 1 gene DOID:11446 sciatic neuropathy ISO RGD:69056 D RGD:9068941 20211203 RGD mRNA:increased expression:spinal cord PMID:32012267|REF_RGD_ID:150527842 12377078 JAK1 Janus kinase 1 gene DOID:1380 endometrial cancer severity ISO RGD:69102 D RGD:9068941 20211203 RGD DNA:frameshift mutations PMID:29121062|REF_RGD_ID:150524355 12377078 JAK1 Janus kinase 1 gene DOID:224 transient cerebral ischemia ISO RGD:69056 D RGD:9068941 20200609 RGD PMID:10756075|REF_RGD_ID:19165138 12377078 JAK1 Janus kinase 1 gene DOID:2394 ovarian cancer treatment ISO RGD:69102 D RGD:9068941 20200609 RGD PMID:25319391|REF_RGD_ID:19165135 12377078 JAK1 Janus kinase 1 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:69102 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic ductal cell (human) PMID:28677798|REF_RGD_ID:13838745 12377078 JAK1 Janus kinase 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:69102 D RGD:9068941 20211203 RGD protein:increased phosphorylation:lung PMID:28989534|REF_RGD_ID:150524360 12377078 JAK1 Janus kinase 1 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:69102 D RGD:9068941 20200609 RGD human cell line in a mouse model PMID:29328487|REF_RGD_ID:13838743 12377078 JAK1 Janus kinase 1 gene DOID:5082 liver cirrhosis treatment ISO RGD:69103 D RGD:9068941 20200609 RGD associated with Schistosomiasis Japonica PMID:27439782|REF_RGD_ID:19165137 12377078 JAK1 Janus kinase 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:69102 D RGD:9068941 20200609 RGD DNA:missense mutation: :c.1972G>T (p.V658F) (human) PMID:18559588|REF_RGD_ID:18936996 12377078 JAK1 Janus kinase 1 gene DOID:630 genetic disease ISO RGD:69102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20167706|PMID:25356970|PMID:28111307|PMID:28492532 12377078 JAK1 Janus kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:69102 D RGD:9068941 20211203 RGD PMID:23788652|REF_RGD_ID:150524353 12377078 JAK1 Janus kinase 1 gene DOID:824 periodontitis treatment ISO RGD:69103 D RGD:9068941 20200609 RGD PMID:26825585|REF_RGD_ID:18936995 12377078 JAK1 Janus kinase 1 gene DOID:824 periodontitis treatment ISO RGD:69103 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23333931|REF_RGD_ID:18936997 12377078 JAK1 Janus kinase 1 gene DOID:8997 polycythemia vera ISO RGD:69102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycythemia rubra vera PMID:16239216|PMID:19139102|PMID:19470474|PMID:19838194|PMID:21436584|PMID:21680795 12377078 JAK1 Janus kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12377078 JAK1 Janus kinase 1 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:69056 D RGD:9068941 20200609 RGD PMID:29452839|REF_RGD_ID:19165139 12377078 JAK1 Janus kinase 1 gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:69102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features PMID:16239216|PMID:19139102|PMID:19470474|PMID:19838194|PMID:20167706|PMID:21436584|PMID:21680795|PMID:22955920|PMID:25356970|PMID:28111307 12377078 JAK1 Janus kinase 1 gene DOID:9002669 Hypoxia ISO RGD:69056 D RGD:9068941 20211203 RGD mRNA, protein:increased expression:lung PMID:14703438|REF_RGD_ID:150527843 12377078 JAK1 Janus kinase 1 gene DOID:9005382 X-Linked Acute Leukemia ISO RGD:69102 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukemia, acute, X-linked PMID:16239216|PMID:19139102|PMID:19470474|PMID:19838194|PMID:21436584|PMID:21680795 12377078 JAK1 Janus kinase 1 gene DOID:9006876 Autoinflammation, Immunde Dysregulation, and Eosinophilia ISO RGD:69102 D RGD:7240710 20200930 OMIM 12377078 JAK1 Janus kinase 1 gene DOID:9006876 Autoinflammation, Immunde Dysregulation, and Eosinophilia ISO RGD:69102 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: ATOPIC DERMATITIS, ENTERITIS, COLITIS, AND EOSINOPHILIA PMID:20167706|PMID:24728327|PMID:25356970|PMID:25741868|PMID:28111307|PMID:28492532|PMID:32750333|PMID:35046931 12377078 JAK1 Janus kinase 1 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:69056 D RGD:9068941 20200609 RGD PMID:21369693|REF_RGD_ID:19165136 12377078 JAK1 Janus kinase 1 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:69102 D RGD:9068941 20200609 RGD DNA:SNPs: :rs4244165, rs17127024 (human) PMID:22901011|REF_RGD_ID:19165132 12377078 JAK1 Janus kinase 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:69103 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12377078 JAK1 Janus kinase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:69102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:16239216|PMID:19139102|PMID:19470474|PMID:19838194|PMID:21436584|PMID:21680795 12377078 JAK1 Janus kinase 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:69102 D RGD:9068941 20200609 RGD DNA:frameshift mutations PMID:28539123|REF_RGD_ID:18936998 12377078 JAK1 Janus kinase 1 gene DOID:9256 colorectal cancer severity ISO RGD:69102 D RGD:9068941 20211203 RGD DNA:frameshift mutations PMID:29121062|REF_RGD_ID:150524355 12377123 SYBU syntabulin gene DOID:630 genetic disease ISO RGD:1604347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377136 LOC475522 serine protease 58-like gene DOID:630 genetic disease ISO RGD:1606966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377136 LOC475522 serine protease 58-like gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1606966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 12377146 S100A10 S100 calcium binding protein A10 gene DOID:0050902 medulloblastoma ISO RGD:733247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17579622 12377146 S100A10 S100 calcium binding protein A10 gene DOID:0111940 immunodeficiency 42 ISO RGD:733247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12377146 S100A10 S100 calcium binding protein A10 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:733247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12377146 S100A10 S100 calcium binding protein A10 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:733247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12377146 S100A10 S100 calcium binding protein A10 gene DOID:1540 parathyroid carcinoma ISO RGD:733247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12377146 S100A10 S100 calcium binding protein A10 gene DOID:1596 depressive disorder ISO RGD:733247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21682946 12377146 S100A10 S100 calcium binding protein A10 gene DOID:5812 MHC class II deficiency ISO RGD:733247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12377146 S100A10 S100 calcium binding protein A10 gene DOID:630 genetic disease ISO RGD:733247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377146 S100A10 S100 calcium binding protein A10 gene DOID:9000058 Keloid ISO RGD:733247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12377146 S100A10 S100 calcium binding protein A10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12377146 S100A10 S100 calcium binding protein A10 gene DOID:9006205 Animal Disease Models ISO RGD:733247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21682946 12377146 S100A10 S100 calcium binding protein A10 gene DOID:9119 acute myeloid leukemia ISO RGD:733247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12377146 S100A10 S100 calcium binding protein A10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12377146 S100a10 S100 calcium binding protein A10 gene DOID:1596 depressive disorder ISO RGD:628655 D RGD:9068941 20200609 RGD DNA:hypermethylated:promoter: PMID:21682946|REF_RGD_ID:9588311 12377153 TMEM259 transmembrane protein 259 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1322435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 12377153 TMEM259 transmembrane protein 259 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1322435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 12377153 TMEM259 transmembrane protein 259 gene DOID:5339 cyclic hematopoiesis ISO RGD:1322435 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12377153 TMEM259 transmembrane protein 259 gene DOID:630 genetic disease ISO RGD:1322435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377172 AAR2 AAR2 splicing factor gene DOID:630 genetic disease ISO RGD:1322325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377172 AAR2 AAR2 splicing factor gene DOID:9008086 Developmental Disabilities ISO RGD:1322325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12377183 TPI1 triosephosphate isomerase 1 gene DOID:0050884 triosephosphate isomerase deficiency ISO RGD:737023 D RGD:7240710 20180130 OMIM 12377183 TPI1 triosephosphate isomerase 1 gene DOID:0050884 triosephosphate isomerase deficiency ISO RGD:737023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Triosephosphate isomerase deficiency PMID:10209987|PMID:10910933|PMID:11196750|PMID:11698297|PMID:17183658|PMID:17576681|PMID:18562316|PMID:20374271|PMID:24033266|PMID:24056040|PMID:24192681|PMID:24840153|PMID:25741868|PMID:26863999|PMID:27717089|PMID:28492532|PMID:2876430|PMID:32873690|PMID:7485100|PMID:7628118|PMID:8244340|PMID:8503454|PMID:8571957|PMID:8579052|PMID:9338582|PMID:9536098|PMID:9842650 12377183 TPI1 triosephosphate isomerase 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:737023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12377183 TPI1 triosephosphate isomerase 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:737023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12377183 TPI1 triosephosphate isomerase 1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:737023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12377183 TPI1 triosephosphate isomerase 1 gene DOID:0080600 COVID-19 ISO RGD:737023 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12377183 TPI1 triosephosphate isomerase 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:737023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12377183 TPI1 triosephosphate isomerase 1 gene DOID:0111621 Temtamy syndrome ISO RGD:737023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12377183 TPI1 triosephosphate isomerase 1 gene DOID:10652 Alzheimer's disease ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19374891 12377183 TPI1 triosephosphate isomerase 1 gene DOID:11476 osteoporosis ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12377183 TPI1 triosephosphate isomerase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12377183 TPI1 triosephosphate isomerase 1 gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8503454 12377183 TPI1 triosephosphate isomerase 1 gene DOID:2978 carbohydrate metabolic disorder ISO RGD:737023 D RGD:9068941 20200609 RGD triosephosphate isomerase deficiency PMID:9338582|REF_RGD_ID:1599584 12377183 TPI1 triosephosphate isomerase 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12377183 TPI1 triosephosphate isomerase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12377183 TPI1 triosephosphate isomerase 1 gene DOID:440 neuromuscular disease ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8503454 12377183 TPI1 triosephosphate isomerase 1 gene DOID:583 hemolytic anemia ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2876430 12377183 TPI1 triosephosphate isomerase 1 gene DOID:630 genetic disease ISO RGD:737023 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12377183 TPI1 triosephosphate isomerase 1 gene DOID:655 inherited metabolic disorder ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2876430|PMID:8503454 12377183 TPI1 triosephosphate isomerase 1 gene DOID:9000165 Neuromuscular Manifestations ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2876430|PMID:8503454 12377183 TPI1 triosephosphate isomerase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3896 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:17465459|REF_RGD_ID:5147874 12377183 TPI1 triosephosphate isomerase 1 gene DOID:9006205 Animal Disease Models ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12377183 TPI1 triosephosphate isomerase 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 12377183 TPI1 triosephosphate isomerase 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:737023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12377183 TPI1 triosephosphate isomerase 1 gene DOID:9282 ocular hypertension ISO RGD:3896 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:18626730|REF_RGD_ID:2303613 12377194 SLC4A10 solute carrier family 4 member 10 gene DOID:1059 intellectual disability ISO RGD:1348028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18413482 12377194 SLC4A10 solute carrier family 4 member 10 gene DOID:12849 autistic disorder ISO RGD:1348028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 12377194 SLC4A10 solute carrier family 4 member 10 gene DOID:1561 cognitive disorder ISO RGD:1348028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18413482 12377194 SLC4A10 solute carrier family 4 member 10 gene DOID:1826 epilepsy ISO RGD:1348028 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18165320 12377194 SLC4A10 solute carrier family 4 member 10 gene DOID:3331 frontal lobe epilepsy ISO RGD:1348028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18413482 12377194 SLC4A10 solute carrier family 4 member 10 gene DOID:630 genetic disease ISO RGD:1348028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377194 SLC4A10 solute carrier family 4 member 10 gene DOID:9428 intracranial hypertension ISO RGD:1348028 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18165320 12377260 NCF4 neutrophil cytosolic factor 4 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1314271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12377260 NCF4 neutrophil cytosolic factor 4 gene DOID:0070194 autosomal recessive chronic granulomatous disease 3 ISO RGD:1314271 D RGD:7240710 20180130 OMIM 12377260 NCF4 neutrophil cytosolic factor 4 gene DOID:0070194 autosomal recessive chronic granulomatous disease 3 ISO RGD:1314271 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE III | ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3 | ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III PMID:16199547|PMID:16880254|PMID:17576681|PMID:19692703|PMID:20167518|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29431110|PMID:29454792|PMID:29969437|PMID:31027832|PMID:34547651|PMID:9536098 12377260 NCF4 neutrophil cytosolic factor 4 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1314271 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12377260 NCF4 neutrophil cytosolic factor 4 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1314271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12377260 NCF4 neutrophil cytosolic factor 4 gene DOID:114 heart disease ISO RGD:1314271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16330681 12377260 NCF4 neutrophil cytosolic factor 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1314271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12377260 NCF4 neutrophil cytosolic factor 4 gene DOID:3265 chronic granulomatous disease ISO RGD:1314271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic granulomatous disease PMID:19692703|PMID:28492532|PMID:29969437|PMID:34034819 12377260 NCF4 neutrophil cytosolic factor 4 gene DOID:630 genetic disease ISO RGD:1314271 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12377260 NCF4 neutrophil cytosolic factor 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1314271 D RGD:9068941 20210205 RGD DNA:polymorphism, SNP:cds (rs729749) (human) PMID:17897462|REF_RGD_ID:41404710 12377260 NCF4 neutrophil cytosolic factor 4 gene DOID:8778 Crohn's disease ISO RGD:1314271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17435756 12377274 MED30 mediator complex subunit 30 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1319681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12377274 MED30 mediator complex subunit 30 gene DOID:206 hereditary multiple exostoses ISO RGD:1319681 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 12377274 MED30 mediator complex subunit 30 gene DOID:630 genetic disease ISO RGD:1319681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377282 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:0050795 cone dystrophy ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362 12377282 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:0050807 Kahrizi syndrome ISO RGD:1606233 D RGD:7240710 20180130 OMIM 12377282 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:0050807 Kahrizi syndrome ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kahrizi syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE PMID:18781183|PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362 12377282 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1606233 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 12377282 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:0080568 congenital disorder of glycosylation Iq ISO RGD:1606233 D RGD:7240710 20180130 OMIM 12377282 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:0080568 congenital disorder of glycosylation Iq ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1Q PMID:17576681|PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:26219881|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31319225|PMID:31638560|PMID:32581362|PMID:9536098 12377282 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:1059 intellectual disability ISO RGD:1606233 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12377282 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1606233 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 12377282 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:12849 autistic disorder ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362 12377282 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:255 hemangioma ISO RGD:1606233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemangioma PMID:25741868|PMID:28492532 12377282 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:17576681|PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362|PMID:9536098 12377282 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:630 genetic disease ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27480077|PMID:28492532 12377282 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:9005603 Muscle Hypotonia ISO RGD:1606233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:28492532 12377282 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:9006534 Nervous System Malformations ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362 12377282 SRD5A3 steroid 5 alpha-reductase 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362 12377291 INSR insulin receptor gene DOID:0050470 Donohue syndrome ISO RGD:69029 D RGD:7240710 20180130 OMIM 12377291 INSR insulin receptor gene DOID:0050470 Donohue syndrome ISO RGD:69029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Donohue syndrome | ClinVar Annotator: match by term: Leprechaunism | ClinVar Annotator: match by term: Leprechaunism syndrome PMID:10084586|PMID:10933564|PMID:11463381|PMID:12023989|PMID:12970295|PMID:1315125|PMID:1607067|PMID:1657953|PMID:1730625|PMID:19135752|PMID:2002058|PMID:2040394|PMID:2211730|PMID:22775283|PMID:2300553|PMID:2365819|PMID:24033266|PMID:24498630|PMID:2479553|PMID:25741868|PMID:26874853|PMID:27840822|PMID:27896077|PMID:2834824|PMID:28492532|PMID:29369573|PMID:2983222|PMID:30663027|PMID:31989990|PMID:3280314|PMID:7042734|PMID:7657032|PMID:7693131|PMID:7815442|PMID:8101305|PMID:8188715|PMID:8257688|PMID:8314008|PMID:8326490|PMID:8419945|PMID:8432414|PMID:8900242 12377291 INSR insulin receptor gene DOID:0050700 cardiomyopathy ISO RGD:10813 D RGD:9068941 20200609 RGD PMID:11877471|REF_RGD_ID:1302524 12377291 INSR insulin receptor gene DOID:0060041 autism spectrum disorder ISO RGD:69029 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12377291 INSR insulin receptor gene DOID:0060071 pre-malignant neoplasm ISO RGD:2917 D RGD:9068941 20200609 RGD associated with Carcinoma, Hepatocellular PMID:21411721|REF_RGD_ID:10403043 12377291 INSR insulin receptor gene DOID:0060346 Native American myopathy ISO RGD:69029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA PMID:10084586|PMID:11463381|PMID:2040394|PMID:25741868|PMID:27896077|PMID:28492532|PMID:8432414|PMID:8900242 12377291 INSR insulin receptor gene DOID:0070215 familial hyperinsulinemic hypoglycemia 4 ISO RGD:69029 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 | ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency PMID:15161766|PMID:19135752|PMID:2002058|PMID:25741868|PMID:27896077|PMID:28492532|PMID:7042734|PMID:8288049 12377291 INSR insulin receptor gene DOID:0070215 familial hyperinsulinemic hypoglycemia 4 ISO RGD:69029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency PMID:15161766|PMID:19135752|PMID:2002058|PMID:25741868|PMID:26874853|PMID:27840822|PMID:27896077|PMID:28492532|PMID:30663027|PMID:7042734|PMID:8288049 12377291 INSR insulin receptor gene DOID:0070220 familial hyperinsulinemic hypoglycemia 5 ISO RGD:69029 D RGD:7240710 20180130 OMIM 12377291 INSR insulin receptor gene DOID:0070220 familial hyperinsulinemic hypoglycemia 5 ISO RGD:69029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 5 | ClinVar Annotator: match by term: Hyperinsulinism due to INSR deficiency PMID:15161766|PMID:19135752|PMID:2002058|PMID:25741868|PMID:26874853|PMID:27840822|PMID:27896077|PMID:28492532|PMID:30663027|PMID:7042734|PMID:8288049 12377291 INSR insulin receptor gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:10813 D RGD:9068941 20200609 RGD DNA:deletion:cds: (codon 306, exon 4) (mouse) PMID:28468951|REF_RGD_ID:14700929 12377291 INSR insulin receptor gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:2917 D RGD:9068941 20200609 RGD DNA:deletion:cds:codon 306 in exon 4 (mouse) PMID:28468951|REF_RGD_ID:14700929 12377291 INSR insulin receptor gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:2917 D RGD:9068941 20200609 RGD PMID:29325294|REF_RGD_ID:14700932 12377291 INSR insulin receptor gene DOID:0080490 mucolipidosis type IV ISO RGD:69029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12377291 INSR insulin receptor gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10084586|PMID:11463381|PMID:1607076|PMID:2040394|PMID:25741868|PMID:27896077|PMID:28492532|PMID:31989990|PMID:7814014|PMID:8432414|PMID:8900242 12377291 INSR insulin receptor gene DOID:10485 esophageal atresia ISO RGD:69029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12377291 INSR insulin receptor gene DOID:10603 glucose intolerance ISO RGD:10813 D RGD:9068941 20200609 RGD PMID:10949030|REF_RGD_ID:1302523 12377291 INSR insulin receptor gene DOID:10603 glucose intolerance ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10949030 12377291 INSR insulin receptor gene DOID:10605 short bowel syndrome treatment ISO RGD:2917 D RGD:9068941 20200609 RGD PMID:19847442|REF_RGD_ID:10403044 12377291 INSR insulin receptor gene DOID:10652 Alzheimer's disease ISO RGD:2917 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:16627931|REF_RGD_ID:5509963 12377291 INSR insulin receptor gene DOID:10652 Alzheimer's disease ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24055495 12377291 INSR insulin receptor gene DOID:10652 Alzheimer's disease ISO RGD:69029 D RGD:9068941 20200609 RGD protein:altered localization:brain, neuron PMID:18479783|REF_RGD_ID:10045894 12377291 INSR insulin receptor gene DOID:10652 Alzheimer's disease treatment ISO RGD:10813 D RGD:9068941 20200609 RGD PMID:23011726|REF_RGD_ID:10403036 12377291 INSR insulin receptor gene DOID:11712 lipoatrophic diabetes mellitus ISO RGD:10813 D RGD:9068941 20200609 RGD PMID:14722613|REF_RGD_ID:1302525 12377291 INSR insulin receptor gene DOID:11714 gestational diabetes ISO RGD:2917 D RGD:9068941 20200609 RGD PMID:22241286|REF_RGD_ID:10046048 12377291 INSR insulin receptor gene DOID:11714 gestational diabetes ISO RGD:69029 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:placenta (human) PMID:19179458|REF_RGD_ID:2307336 12377291 INSR insulin receptor gene DOID:12217 Lewy body dementia ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 12377291 INSR insulin receptor gene DOID:13413 hepatic encephalopathy ISO RGD:2917 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus, cerebral cortex (rat) PMID:28505381|REF_RGD_ID:14700777 12377291 INSR insulin receptor gene DOID:14330 Parkinson's disease ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 12377291 INSR insulin receptor gene DOID:1612 breast cancer ISO RGD:69029 D RGD:9068941 20200609 RGD protein:increased expression:tumor:four-fold higher vs normal breast tissue PMID:8518410|REF_RGD_ID:2290465 12377291 INSR insulin receptor gene DOID:1612 breast cancer severity ISO RGD:69029 D RGD:9068941 20200609 RGD protein:increased expression:tumor:higher expression associated with favorable prognostic markers and increased disease-free survival (P=0.027) PMID:17221153|REF_RGD_ID:2290447 12377291 INSR insulin receptor gene DOID:1837 diabetic ketoacidosis ISO RGD:10813 D RGD:9068941 20200609 RGD PMID:15254588|REF_RGD_ID:1302526 12377291 INSR insulin receptor gene DOID:2018 hyperinsulinism ISO RGD:10813 D RGD:9068941 20200609 RGD PMID:10949030|REF_RGD_ID:1302523 12377291 INSR insulin receptor gene DOID:2018 hyperinsulinism ISO RGD:10813 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.P1195L (mouse) PMID:21549686|REF_RGD_ID:10403034 12377291 INSR insulin receptor gene DOID:2018 hyperinsulinism ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10949030|PMID:18411068 12377291 INSR insulin receptor gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:69029 D RGD:9068941 20200609 RGD PMID:26452103|REF_RGD_ID:13504753 12377291 INSR insulin receptor gene DOID:303 substance-related disorder ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12377291 INSR insulin receptor gene DOID:3594 choriocarcinoma disease_progression ISO RGD:69029 D RGD:9068941 20200609 RGD protein:increased activity:tumor:IGF-II increased choriocarcinoma cell invasion via activation of INSR PMID:17556377|REF_RGD_ID:2290454 12377291 INSR insulin receptor gene DOID:3827 congenital diaphragmatic hernia ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21433279 12377291 INSR insulin receptor gene DOID:4195 hyperglycemia ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18056790 12377291 INSR insulin receptor gene DOID:4440 seminoma ISO RGD:69029 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:isoform B PMID:15967097|REF_RGD_ID:2290460 12377291 INSR insulin receptor gene DOID:4450 renal cell carcinoma ISO RGD:69029 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:isoform A PMID:15753986|REF_RGD_ID:2290462 12377291 INSR insulin receptor gene DOID:630 genetic disease ISO RGD:69029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:2211730|PMID:25741868|PMID:26874853|PMID:27840822|PMID:28492532|PMID:2983222|PMID:30663027|PMID:8257688 12377291 INSR insulin receptor gene DOID:684 hepatocellular carcinoma ISO RGD:2917 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:29610518|REF_RGD_ID:14700930 12377291 INSR insulin receptor gene DOID:684 hepatocellular carcinoma ISO RGD:2917 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (human, rat) PMID:23633480|REF_RGD_ID:9685423 12377291 INSR insulin receptor gene DOID:684 hepatocellular carcinoma ISO RGD:69029 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (human, rat) PMID:23633480|REF_RGD_ID:9685423 12377291 INSR insulin receptor gene DOID:784 chronic kidney disease ISO RGD:2917 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:aorta PMID:22942179|REF_RGD_ID:7207055 12377291 INSR insulin receptor gene DOID:811 lipodystrophy ISO RGD:10813 D RGD:9068941 20200609 RGD PMID:14722613|REF_RGD_ID:1302525 12377291 INSR insulin receptor gene DOID:850 lung disease ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20438933|PMID:21433279 12377291 INSR insulin receptor gene DOID:8947 diabetic retinopathy ISO RGD:10813 D RGD:9068941 20220825 MouseDO 12377291 INSR insulin receptor gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:2917 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:cytoplasm,liver (rat) PMID:15520221|REF_RGD_ID:2306052 12377291 INSR insulin receptor gene DOID:9001751 Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans ISO RGD:69029 D RGD:7240710 20180130 OMIM 12377291 INSR insulin receptor gene DOID:9001751 Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans ISO RGD:69029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, TYPE A | ClinVar Annotator: match by term: IRAN, TYPE A PMID:10084586|PMID:10933564|PMID:11463381|PMID:13302174|PMID:15161766|PMID:1644241|PMID:19135752|PMID:1963473|PMID:1971035|PMID:2002058|PMID:2040394|PMID:2121734|PMID:2203761|PMID:2211730|PMID:22775283|PMID:2365819|PMID:24033266|PMID:2460770|PMID:2544998|PMID:25741868|PMID:2662406|PMID:26874853|PMID:27840822|PMID:27896077|PMID:28492532|PMID:2859121|PMID:2983222|PMID:30663027|PMID:31989990|PMID:3283938|PMID:3384956|PMID:3510919|PMID:6339538|PMID:7042734|PMID:7657032|PMID:8096518|PMID:8257688|PMID:8288049|PMID:8314008|PMID:8432414|PMID:8900242 12377291 INSR insulin receptor gene DOID:9001863 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES ISO RGD:69029 D RGD:7240710 20190918 OMIM 12377291 INSR insulin receptor gene DOID:9001863 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES ISO RGD:69029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mendenhall Syndrome | ClinVar Annotator: match by term: Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities | ClinVar Annotator: match by term: Rabson-Mendenhall syndrome PMID:10084586|PMID:10933564|PMID:11463381|PMID:19135752|PMID:2002058|PMID:2040394|PMID:2121734|PMID:2211730|PMID:2233914|PMID:22775283|PMID:2365819|PMID:23969187|PMID:24033266|PMID:25358339|PMID:25741868|PMID:26691667|PMID:26874853|PMID:27840822|PMID:27896077|PMID:28492532|PMID:29082893|PMID:2983222|PMID:30663027|PMID:31989990|PMID:3721065|PMID:7042734|PMID:7657032|PMID:8257688|PMID:8314008|PMID:8432414|PMID:8900242|PMID:9249867|PMID:9449692 12377291 INSR insulin receptor gene DOID:9002211 Hyperalgesia ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18331706 12377291 INSR insulin receptor gene DOID:9002211 Hyperalgesia treatment ISO RGD:10813 D RGD:9068941 20200609 RGD associated with Diabetic Neuropathies PMID:23511693|REF_RGD_ID:10403050 12377291 INSR insulin receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:69029 D RGD:9068941 20200609 RGD protein:increased expression:LNCaP tumors:increased tumor size and INSR levels in human tumor cells injected subcutaneously into mice on a high carbohydrate-high fat diet PMID:18042933|REF_RGD_ID:2290446 12377291 INSR insulin receptor gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:69029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 12377291 INSR insulin receptor gene DOID:9004086 AIDS Dementia Complex severity ISO RGD:69029 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid, plasma PMID:22629383|REF_RGD_ID:10403033 12377291 INSR insulin receptor gene DOID:9004989 Protein Deficiency treatment ISO RGD:2917 D RGD:9068941 20200609 RGD PMID:19880292|REF_RGD_ID:4107735 12377291 INSR insulin receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2917 D RGD:9068941 20200609 RGD associated with streptozocin;protein:altered activity:liver plasma membrane (rat) PMID:2180315|REF_RGD_ID:14981592 12377291 INSR insulin receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2917 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, adipose tissue (rat) PMID:18638371|REF_RGD_ID:2307025 12377291 INSR insulin receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2917 D RGD:9068941 20200609 RGD protein:decreased expression:erythrocyte (rat) PMID:18376071|REF_RGD_ID:2307339 12377291 INSR insulin receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2917 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:17855644|REF_RGD_ID:2290475 12377291 INSR insulin receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138235|PMID:9243097 12377291 INSR insulin receptor gene DOID:9005643 Experimental Diabetes Mellitus disease_progression ISO RGD:2917 D RGD:9068941 20200609 RGD mRNA:increased expression:liver nuclei, liver cell membrane (rat) PMID:1280238|REF_RGD_ID:15036814 12377291 INSR insulin receptor gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:69029 D RGD:9068941 20200609 RGD PMID:23874448|REF_RGD_ID:10403045 12377291 INSR insulin receptor gene DOID:9007692 Insulin Resistance ISO RGD:69029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Insulin resistance | ClinVar Annotator: match by term: Insulin-resistance syndrome type A PMID:10084586|PMID:10933564|PMID:11463381|PMID:1314826|PMID:13302174|PMID:15161766|PMID:1644241|PMID:1890161|PMID:19135752|PMID:1963473|PMID:1971035|PMID:2002058|PMID:2040394|PMID:2121734|PMID:2203761|PMID:2211730|PMID:22775283|PMID:2365819|PMID:24033266|PMID:2460770|PMID:2544998|PMID:25741868|PMID:2662406|PMID:26874853|PMID:27840822|PMID:27896077|PMID:28492532|PMID:2859121|PMID:2983222|PMID:30663027|PMID:31989990|PMID:3283938|PMID:3384956|PMID:3510919|PMID:6339538|PMID:7042734|PMID:7657032|PMID:8096518|PMID:8202531|PMID:8257688|PMID:8288049|PMID:8314008|PMID:8432414|PMID:8900242 12377291 INSR insulin receptor gene DOID:9007692 Insulin Resistance disease_progression ISO RGD:2917 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver (rat) PMID:26300412|REF_RGD_ID:11529553 12377291 INSR insulin receptor gene DOID:9007692 Insulin Resistance treatment ISO RGD:2917 D RGD:9068941 20200609 RGD PMID:23538485|REF_RGD_ID:10403037 12377291 INSR insulin receptor gene DOID:9351 diabetes mellitus ISO RGD:69029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10084586|PMID:11463381|PMID:2040394|PMID:2211730|PMID:25741868|PMID:26874853|PMID:27840822|PMID:27896077|PMID:28492532|PMID:2983222|PMID:30663027|PMID:8257688|PMID:8432414|PMID:8900242 12377291 INSR insulin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:69029 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Insulin-resistant diabetes mellitus | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10084586|PMID:11463381|PMID:1607076|PMID:1845971|PMID:2040394|PMID:25741868|PMID:27896077|PMID:28492532|PMID:2884728|PMID:31989990|PMID:4413914|PMID:7814014|PMID:8432414|PMID:8900242 12377291 INSR insulin receptor gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:10813 D RGD:9068941 20200609 RGD PMID:19224872|REF_RGD_ID:2307335 12377291 INSR insulin receptor gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:2917 D RGD:9068941 20200609 RGD PMID:19251743|PMID:23700236|REF_RGD_ID:10403046|REF_RGD_ID:2307334 12377291 INSR insulin receptor gene DOID:9452 fatty liver disease ISO RGD:2917 D RGD:9068941 20200609 RGD protein:decreased phosphorylation: liver (rat) PMID:22546076|REF_RGD_ID:14700935 12377291 INSR insulin receptor gene DOID:9452 fatty liver disease treatment ISO RGD:2917 D RGD:9068941 20200609 RGD PMID:25160038|REF_RGD_ID:14700926 12377291 INSR insulin receptor gene DOID:9452 fatty liver disease treatment ISO RGD:2917 D RGD:9068941 20200609 RGD associated with obesity;human gene in mouse model PMID:30642871|REF_RGD_ID:14701028 12377291 INSR insulin receptor gene DOID:9743 diabetic neuropathy ISO RGD:2917 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased phosphorylation:sciatic nerve PMID:18331706|REF_RGD_ID:2307344 12377291 INSR insulin receptor gene DOID:9743 diabetic neuropathy ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18331706 12377319 PPFIBP1 PPFIA binding protein 1 gene DOID:1059 intellectual disability ISO RGD:1320664 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:35830857 12377319 PPFIBP1 PPFIA binding protein 1 gene DOID:1826 epilepsy ISO RGD:1320664 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:35830857 12377319 PPFIBP1 PPFIA binding protein 1 gene DOID:3677 pulmonary plasma cell granuloma ISO RGD:1320664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21430068 12377319 PPFIBP1 PPFIA binding protein 1 gene DOID:630 genetic disease ISO RGD:1320664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377319 PPFIBP1 PPFIA binding protein 1 gene DOID:9006383 Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities ISO RGD:1320664 D RGD:7240710 20221116 OMIM 12377319 PPFIBP1 PPFIA binding protein 1 gene DOID:9006383 Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities ISO RGD:1320664 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities PMID:25741868|PMID:35830857 12377386 PDE6C phosphodiesterase 6C gene DOID:0050572 cone-rod dystrophy ISO RGD:1320406 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive PMID:28492532 12377386 PDE6C phosphodiesterase 6C gene DOID:0050795 cone dystrophy ISO RGD:1320406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy 12377386 PDE6C phosphodiesterase 6C gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:1320406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:24206907|PMID:28492532 12377386 PDE6C phosphodiesterase 6C gene DOID:13911 achromatopsia ISO RGD:1320406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:10393054|PMID:16199547|PMID:17576681|PMID:18614542|PMID:19615668|PMID:19887631|PMID:23776498|PMID:25741868|PMID:26103963|PMID:28041643|PMID:28492532|PMID:28704108|PMID:30080950|PMID:33001157|PMID:33546218|PMID:9536098 12377386 PDE6C phosphodiesterase 6C gene DOID:630 genetic disease ISO RGD:1320406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12377386 PDE6C phosphodiesterase 6C gene DOID:670 amphetamine abuse ISO RGD:1320406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12377386 PDE6C phosphodiesterase 6C gene DOID:8501 fundus dystrophy ISO RGD:1320406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:19887631|PMID:23776498|PMID:26103963|PMID:28492532|PMID:30080950 12377386 PDE6C phosphodiesterase 6C gene DOID:9007377 Achromatopsia 5 ISO RGD:1320406 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Achromatopsia 5 PMID:16199547|PMID:19615668|PMID:19887631|PMID:21127010|PMID:23776498|PMID:25741868|PMID:26103963|PMID:28492532|PMID:30080950 12377386 PDE6C phosphodiesterase 6C gene DOID:9008296 Eye Abnormalities ISO RGD:1320406 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 12377386 PDE6C phosphodiesterase 6C gene DOID:9008571 Cone Dystrophy 4 ISO RGD:1320406 D RGD:7240710 20180130 OMIM 12377386 PDE6C phosphodiesterase 6C gene DOID:9008571 Cone Dystrophy 4 ISO RGD:1320406 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cone dystrophy 4 PMID:10393054|PMID:16199547|PMID:17576681|PMID:18614542|PMID:19615668|PMID:19887631|PMID:21127010|PMID:23776498|PMID:25326637|PMID:25741868|PMID:26103963|PMID:27124789|PMID:28041643|PMID:28492532|PMID:30080950|PMID:33001157|PMID:33546218|PMID:9536098 12377411 GPR3 G protein-coupled receptor 3 gene DOID:630 genetic disease ISO RGD:1350754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377418 KCNMB2 potassium calcium-activated channel subfamily M regulatory beta subunit 2 gene DOID:0111546 Currarino syndrome ISO RGD:1343870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12377418 KCNMB2 potassium calcium-activated channel subfamily M regulatory beta subunit 2 gene DOID:630 genetic disease ISO RGD:1343870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377426 FGFBP1 fibroblast growth factor binding protein 1 gene DOID:0050777 Joubert syndrome ISO RGD:1350352 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12377426 FGFBP1 fibroblast growth factor binding protein 1 gene DOID:630 genetic disease ISO RGD:1350352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377432 PPP1R3E protein phosphatase 1 regulatory subunit 3E gene DOID:0060439 lysinuric protein intolerance ISO RGD:1318988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12377432 PPP1R3E protein phosphatase 1 regulatory subunit 3E gene DOID:9000265 Specific Granule Deficiency ISO RGD:1318988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 12377432 PPP1R3E protein phosphatase 1 regulatory subunit 3E gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1318988 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12377455 COCH cochlin gene DOID:0050439 Usher syndrome ISO RGD:1318365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:30311386 12377455 COCH cochlin gene DOID:0050563 nonsyndromic deafness ISO RGD:1318365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:10400989|PMID:11332404|PMID:14512963|PMID:16151338|PMID:16481359|PMID:19161137|PMID:24033266|PMID:24662630|PMID:25230692|PMID:28492532|PMID:28733840|PMID:30311386|PMID:9931344 12377455 COCH cochlin gene DOID:0110593 autosomal dominant nonsyndromic deafness 9 ISO RGD:1318365 D RGD:7240710 20180130 OMIM 12377455 COCH cochlin gene DOID:0110593 autosomal dominant nonsyndromic deafness 9 ISO RGD:1318365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 9 PMID:10400989|PMID:11332404|PMID:12928864|PMID:14512963|PMID:16151338|PMID:16261627|PMID:16481359|PMID:18312449|PMID:19161137|PMID:22534022|PMID:24033266|PMID:24662630|PMID:25230692|PMID:25741868|PMID:25780252|PMID:26467025|PMID:28492532|PMID:28733840|PMID:30311386|PMID:8817345|PMID:9806553|PMID:9931344 12377455 COCH cochlin gene DOID:0111644 autosomal recessive nonsyndromic deafness 110 ISO RGD:1318365 D RGD:7240710 20200129 OMIM 12377455 COCH cochlin gene DOID:0111644 autosomal recessive nonsyndromic deafness 110 ISO RGD:1318365 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 110 PMID:24033266|PMID:25741868|PMID:28492532|PMID:29449721 12377455 COCH cochlin gene DOID:10003 sensorineural hearing loss ISO RGD:1318365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:16261627|PMID:19461658|PMID:25780252|PMID:28492532|PMID:30311386|PMID:34652575 12377455 COCH cochlin gene DOID:630 genetic disease ISO RGD:1318365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12377455 COCH cochlin gene DOID:9004538 Hearing Loss ISO RGD:1318365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:10400989|PMID:11332404|PMID:16151338|PMID:16481359|PMID:19161137|PMID:24033266|PMID:24662630|PMID:28733840|PMID:30311386|PMID:9931344 12377455 COCH cochlin gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1318365 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12377455 COCH cochlin gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1318365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant 12377455 COCH cochlin gene DOID:9008681 Deafness susceptibility ISO RGD:1318365 D RGD:9068941 20200609 RGD deafness, autosomal dominant nonsyndromic sensorineural 9, OMIM:9601369;DNA:missense mutations PMID:9806553|REF_RGD_ID:1600878 12377472 GPR157 G protein-coupled receptor 157 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1322370 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12377472 GPR157 G protein-coupled receptor 157 gene DOID:630 genetic disease ISO RGD:1322370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377472 GPR157 G protein-coupled receptor 157 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12377479 LRRC41 leucine rich repeat containing 41 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1607070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma 12377479 LRRC41 leucine rich repeat containing 41 gene DOID:5426 primary ovarian insufficiency ISO RGD:1607070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12377479 LRRC41 leucine rich repeat containing 41 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1607070 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12377479 LRRC41 leucine rich repeat containing 41 gene DOID:630 genetic disease ISO RGD:1607070 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12377502 IGFBP7 insulin like growth factor binding protein 7 gene DOID:4450 renal cell carcinoma ISO RGD:1306201 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:10854235|REF_RGD_ID:1626565 12377502 IGFBP7 insulin like growth factor binding protein 7 gene DOID:630 genetic disease ISO RGD:1314683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377502 IGFBP7 insulin like growth factor binding protein 7 gene DOID:9000217 Stomach Neoplasms ISO RGD:1314683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12377502 IGFBP7 insulin like growth factor binding protein 7 gene DOID:9000951 Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis ISO RGD:1314683 D RGD:7240710 20180130 OMIM 12377502 IGFBP7 insulin like growth factor binding protein 7 gene DOID:9000951 Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis ISO RGD:1314683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | ClinVar Annotator: match by term: Retinal arterial macroaneurysm with supravascular pulmonic stenosis PMID:12441727|PMID:21835307|PMID:25741868 12377502 IGFBP7 insulin like growth factor binding protein 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12377502 IGFBP7 insulin like growth factor binding protein 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314683 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12592389 12377502 IGFBP7 insulin like growth factor binding protein 7 gene DOID:9007692 Insulin Resistance ISO RGD:1314683 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16873698|REF_RGD_ID:1626516 12377502 IGFBP7 insulin like growth factor binding protein 7 gene DOID:9007730 Burns ISO RGD:1306201 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11742840|REF_RGD_ID:1626551 12377502 IGFBP7 insulin like growth factor binding protein 7 gene DOID:9008939 Breast Neoplasms ISO RGD:1314683 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12592389 12377511 RAB27A RAB27A, member RAS oncogene family gene DOID:0050120 hemophagocytic lymphohistiocytosis ISO RGD:1551470 D RGD:9068941 20220825 MouseDO 12377511 RAB27A RAB27A, member RAS oncogene family gene DOID:0060539 Hermansky-Pudlak syndrome 1 ISO RGD:1551470 D RGD:9068941 20220825 MouseDO OMIM:203300 12377511 RAB27A RAB27A, member RAS oncogene family gene DOID:0060831 Griscelli syndrome ISO RGD:1354398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Griscelli syndrome PMID:10835631|PMID:12148598|PMID:16551969|PMID:18350256|PMID:19953648|PMID:23160464|PMID:24033266|PMID:25741868|PMID:26684649|PMID:28492532 12377511 RAB27A RAB27A, member RAS oncogene family gene DOID:0060833 Griscelli syndrome type 2 ISO RGD:1354398 D RGD:7240710 20180130 OMIM 12377511 RAB27A RAB27A, member RAS oncogene family gene DOID:0060833 Griscelli syndrome type 2 ISO RGD:1354398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 2 PMID:10835631|PMID:12058346|PMID:12148598|PMID:12531900|PMID:12648328|PMID:15163896|PMID:15475639|PMID:16199547|PMID:16278825|PMID:16551969|PMID:17085000|PMID:17576681|PMID:18350256|PMID:18397837|PMID:18403584|PMID:19030707|PMID:19953648|PMID:22475297|PMID:23160464|PMID:24033266|PMID:24678334|PMID:25071262|PMID:25312756|PMID:25500851|PMID:25544030|PMID:25741868|PMID:25801174|PMID:25901543|PMID:26684649|PMID:26880764|PMID:27016801|PMID:27416802|PMID:27781387|PMID:28353193|PMID:28492532|PMID:28585352|PMID:28936583|PMID:29357941|PMID:29522846|PMID:30104219|PMID:30290665|PMID:30697212|PMID:30899265|PMID:30934652|PMID:31233462|PMID:32375849|PMID:32542393|PMID:32638196|PMID:32853466|PMID:32856792|PMID:32860008|PMID:32888943|PMID:32965739|PMID:33225392|PMID:33362801|PMID:34573280|PMID:34796988|PMID:8319705|PMID:9536098 12377511 RAB27A RAB27A, member RAS oncogene family gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1354398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:10835631|PMID:15163896|PMID:23160464|PMID:25741868|PMID:28492532 12377511 RAB27A RAB27A, member RAS oncogene family gene DOID:11054 urinary bladder cancer ISO RGD:1354398 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 12377511 RAB27A RAB27A, member RAS oncogene family gene DOID:2223 platelet storage pool deficiency ISO RGD:1551470 D RGD:9068941 20220825 MouseDO OMIM:185050 12377511 RAB27A RAB27A, member RAS oncogene family gene DOID:2717 Bloom syndrome ISO RGD:1354398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12377511 RAB27A RAB27A, member RAS oncogene family gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1354398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10835631|PMID:15475639|PMID:16199547|PMID:16278825|PMID:18397837|PMID:19030707|PMID:19953648|PMID:23160464|PMID:24678334|PMID:25071262|PMID:25500851|PMID:25544030|PMID:25741868|PMID:25801174|PMID:26880764|PMID:27016801|PMID:27781387|PMID:28353193|PMID:28492532|PMID:29357941|PMID:29522846|PMID:30290665|PMID:32375849|PMID:32542393|PMID:32638196|PMID:32853466|PMID:32856792|PMID:32888943|PMID:32965739|PMID:34573280 12377511 RAB27A RAB27A, member RAS oncogene family gene DOID:4330 non-Langerhans-cell histiocytosis ISO RGD:1354398 D RGD:9068941 20200609 RGD Griscelli syndrome type 2, OMIM: 607624;DNA:point mutations:exon:L130P, A152P) PMID:12531900|REF_RGD_ID:1601587 12377511 RAB27A RAB27A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1354398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10835631|PMID:23160464|PMID:25741868|PMID:28492532|PMID:32375849|PMID:34796988 12377511 RAB27A RAB27A, member RAS oncogene family gene DOID:9000918 Disease Progression ISO RGD:1354398 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 12377511 RAB27A RAB27A, member RAS oncogene family gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1354398 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 12377511 RAB27A RAB27A, member RAS oncogene family gene DOID:9005660 Hypopigmentation ISO RGD:1354398 D RGD:9068941 20200609 RGD Griscelli syndrome type 2, OMIM: 607624;DNA:point mutations:exon:L130P, A152P) PMID:12531900|REF_RGD_ID:1601587 12377511 RAB27A RAB27A, member RAS oncogene family gene DOID:9005835 Congenital Abnormalities ISO RGD:1354398 D RGD:9068941 20200609 RGD Griscelli syndrome type I. OMIM:214450 PMID:12058346|REF_RGD_ID:1600821 12377511 RAB27A RAB27A, member RAS oncogene family gene DOID:9256 colorectal cancer ISO RGD:1354398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 12377537 FANK1 fibronectin type III and ankyrin repeat domains 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1312384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12377537 FANK1 fibronectin type III and ankyrin repeat domains 1 gene DOID:630 genetic disease ISO RGD:1312384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377552 RAD51AP1 RAD51 associated protein 1 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1353541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 12377552 RAD51AP1 RAD51 associated protein 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1353541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12377552 RAD51AP1 RAD51 associated protein 1 gene DOID:630 genetic disease ISO RGD:1353541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377552 RAD51AP1 RAD51 associated protein 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1353541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12377566 TMEM242 transmembrane protein 242 gene DOID:10348 blepharophimosis ISO RGD:1316350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:24674232 12377566 TMEM242 transmembrane protein 242 gene DOID:630 genetic disease ISO RGD:1316350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377574 ND4L NADH dehydrogenase subunit 4L gene DOID:0060067 Pearson syndrome ISO RGD:1346946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pearson syndrome 12377574 ND4L NADH dehydrogenase subunit 4L gene DOID:12930 dilated cardiomyopathy ISO RGD:1346946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24088041|PMID:26633545 12377574 ND4L NADH dehydrogenase subunit 4L gene DOID:12934 Kearns-Sayre syndrome ISO RGD:1346946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kearns-Sayre syndrome PMID:20301382 12377574 ND4L NADH dehydrogenase subunit 4L gene DOID:3652 Leigh disease ISO RGD:1346946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:19394449|PMID:20643099|PMID:29444077 12377574 ND4L NADH dehydrogenase subunit 4L gene DOID:700 mitochondrial metabolism disease ISO RGD:1346946 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:11935318|PMID:20301353|PMID:20301382|PMID:30143805|PMID:32906214|PMID:8680405 12377574 ND4L NADH dehydrogenase subunit 4L gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1346946 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber optic atrophy PMID:11935318|PMID:20301353|PMID:30143805|PMID:32906214|PMID:8680405 12377574 ND4L NADH dehydrogenase subunit 4L gene DOID:9256 colorectal cancer ISO RGD:1346946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:13298683|PMID:9806551 12377574 ND4L NADH dehydrogenase subunit 4L gene DOID:9351 diabetes mellitus ISO RGD:1346946 D RGD:9068941 20200609 RGD DNA:deletion: :m.8213_13992 (human) PMID:7603516|REF_RGD_ID:5686343 12377575 HYDIN HYDIN axonemal central pair apparatus protein gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1347981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12377575 HYDIN HYDIN axonemal central pair apparatus protein gene DOID:0110617 primary ciliary dyskinesia 5 ISO RGD:1347981 D RGD:7240710 20180130 OMIM 12377575 HYDIN HYDIN axonemal central pair apparatus protein gene DOID:0110617 primary ciliary dyskinesia 5 ISO RGD:1347981 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 5 PMID:14985390|PMID:23022101|PMID:23849777|PMID:24033266|PMID:25741868|PMID:28512736 12377575 HYDIN HYDIN axonemal central pair apparatus protein gene DOID:10908 hydrocephalus ISO RGD:1347981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12719380|PMID:19029900 12377575 HYDIN HYDIN axonemal central pair apparatus protein gene DOID:10908 hydrocephalus ISO RGD:1558533 D RGD:9068941 20200609 RGD DNA:nonsense mutation:exon (mouse) PMID:12719380|REF_RGD_ID:634487 12377575 HYDIN HYDIN axonemal central pair apparatus protein gene DOID:10908 hydrocephalus ISO RGD:1558533 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 12377575 HYDIN HYDIN axonemal central pair apparatus protein gene DOID:630 genetic disease ISO RGD:1347981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377575 HYDIN HYDIN axonemal central pair apparatus protein gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1347981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868 12377680 DEFB125 defensin beta 125 gene DOID:630 genetic disease ISO RGD:1342634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377699 CBD108 beta-defensin 108B gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1606420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 12377699 CBD108 beta-defensin 108B gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1606420 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12377699 CBD108 beta-defensin 108B gene DOID:1059 intellectual disability ISO RGD:1606420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12377699 CBD108 beta-defensin 108B gene DOID:630 genetic disease ISO RGD:1606420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377705 C25H2orf72 chromosome 25 C2orf72 homolog gene DOID:0060476 Perlman syndrome ISO RGD:2298740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12377705 C25H2orf72 chromosome 25 C2orf72 homolog gene DOID:0110991 Joubert syndrome 22 ISO RGD:2298740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12377705 C25H2orf72 chromosome 25 C2orf72 homolog gene DOID:630 genetic disease ISO RGD:2298740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377712 SYTL4 synaptotagmin like 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:734138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12377712 SYTL4 synaptotagmin like 4 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:734138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:21053371|PMID:23712037|PMID:27179713|PMID:28492532|PMID:29377098 12377712 SYTL4 synaptotagmin like 4 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:734138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 12377712 SYTL4 synaptotagmin like 4 gene DOID:12849 autistic disorder ISO RGD:734138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12377712 SYTL4 synaptotagmin like 4 gene DOID:630 genetic disease ISO RGD:734138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377712 SYTL4 synaptotagmin like 4 gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:734138 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 12377756 CBD107 beta-defensin 107A gene DOID:630 genetic disease ISO RGD:1602611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377761 CLDN4 claudin 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12377761 CLDN4 claudin 4 gene DOID:0060496 respiratory allergy ISO RGD:1317413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30608172 12377761 CLDN4 claudin 4 gene DOID:10923 sickle cell anemia ISO RGD:1317413 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12377761 CLDN4 claudin 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:1317413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12377761 CLDN4 claudin 4 gene DOID:12849 autistic disorder ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12377761 CLDN4 claudin 4 gene DOID:13976 peptic esophagitis ISO RGD:1307932 D RGD:9068941 20200609 RGD protein:altered localization:esophagus epithelium, cytoplasm PMID:16143882|REF_RGD_ID:2317602 12377761 CLDN4 claudin 4 gene DOID:1790 malignant mesothelioma ISO RGD:1317413 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 12377761 CLDN4 claudin 4 gene DOID:1793 pancreatic cancer ISO RGD:1317413 D RGD:9068941 20200609 RGD PMID:19555390|PMID:19793693|REF_RGD_ID:2317580|REF_RGD_ID:2317583 12377761 CLDN4 claudin 4 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1317413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 12377761 CLDN4 claudin 4 gene DOID:1929 supravalvular aortic stenosis ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740 12377761 CLDN4 claudin 4 gene DOID:2394 ovarian cancer ISO RGD:1317413 D RGD:9068941 20200609 RGD PMID:19555390|REF_RGD_ID:2317583 12377761 CLDN4 claudin 4 gene DOID:3008 invasive ductal carcinoma ISO RGD:1317413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19142967 12377761 CLDN4 claudin 4 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1317413 D RGD:9068941 20200609 RGD PMID:15693851|REF_RGD_ID:2317592 12377761 CLDN4 claudin 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12377761 CLDN4 claudin 4 gene DOID:5419 schizophrenia ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12377761 CLDN4 claudin 4 gene DOID:630 genetic disease ISO RGD:1317413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377761 CLDN4 claudin 4 gene DOID:8445 intestinal volvulus ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12377761 CLDN4 claudin 4 gene DOID:9004009 Reperfusion Injury ISO RGD:1307932 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:small intestine epithelium PMID:17375208|REF_RGD_ID:2317600 12377761 CLDN4 claudin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12377761 CLDN4 claudin 4 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1317413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19142967 12377761 CLDN4 claudin 4 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12377761 CLDN4 claudin 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1317413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19142967 12377803 EDN1 endothelin 1 gene DOID:0050152 aspiration pneumonia ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (rat) PMID:19262391|REF_RGD_ID:4145069 12377803 EDN1 endothelin 1 gene DOID:0050700 cardiomyopathy ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11589785 12377803 EDN1 endothelin 1 gene DOID:0050758 metabolic acidosis treatment ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:17255858|REF_RGD_ID:1625312 12377803 EDN1 endothelin 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:myocardium (rat) PMID:19358946|REF_RGD_ID:4145067 12377803 EDN1 endothelin 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:730848 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.K198N (human) PMID:18580062|REF_RGD_ID:4145075 12377803 EDN1 endothelin 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:17198911|REF_RGD_ID:4144901 12377803 EDN1 endothelin 1 gene DOID:0060224 atrial fibrillation ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762801 12377803 EDN1 endothelin 1 gene DOID:0060224 atrial fibrillation severity ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:22669310|REF_RGD_ID:8661797 12377803 EDN1 endothelin 1 gene DOID:0070355 overactive bladder syndrome ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15371886 12377803 EDN1 endothelin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:20005906|REF_RGD_ID:8661800 12377803 EDN1 endothelin 1 gene DOID:10591 pre-eclampsia ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25230003 12377803 EDN1 endothelin 1 gene DOID:1070 primary open angle glaucoma ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:22406080|REF_RGD_ID:8661676 12377803 EDN1 endothelin 1 gene DOID:1074 kidney failure ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7967349 12377803 EDN1 endothelin 1 gene DOID:1074 kidney failure onset ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:20888384|REF_RGD_ID:4144130 12377803 EDN1 endothelin 1 gene DOID:10762 portal hypertension ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:17214938|REF_RGD_ID:4892595 12377803 EDN1 endothelin 1 gene DOID:10763 hypertension ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (rat) PMID:20733093|REF_RGD_ID:4144829 12377803 EDN1 endothelin 1 gene DOID:10763 hypertension ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10474778|PMID:10669576|PMID:11847185|PMID:12149661|PMID:12425201|PMID:12600921|PMID:15188945|PMID:15302986|PMID:15314687|PMID:15834289|PMID:17130675|PMID:7721406|PMID:8152482|PMID:8440307 12377803 EDN1 endothelin 1 gene DOID:10763 hypertension ISO RGD:730848 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.K198N (human) PMID:17444275|REF_RGD_ID:1625065 12377803 EDN1 endothelin 1 gene DOID:10763 hypertension ISO RGD:730848 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies;protein:increased secretion:plasma PMID:18496905|REF_RGD_ID:2313283 12377803 EDN1 endothelin 1 gene DOID:10763 hypertension ISO RGD:730848 D RGD:9068941 20200609 RGD human gene in a rat model PMID:11078355|REF_RGD_ID:8661804 12377803 EDN1 endothelin 1 gene DOID:10941 intracranial aneurysm ISO RGD:730848 D RGD:9068941 20230202 RGD protein:increased expression:serum PMID:32602008|REF_RGD_ID:155882593 12377803 EDN1 endothelin 1 gene DOID:10952 nephritis treatment ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:multiple (rat) PMID:9176845|REF_RGD_ID:8662324 12377803 EDN1 endothelin 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (rat) PMID:1618274|REF_RGD_ID:4145073 12377803 EDN1 endothelin 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16625121 12377803 EDN1 endothelin 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:8256914|REF_RGD_ID:4145079 12377803 EDN1 endothelin 1 gene DOID:11394 adult respiratory distress syndrome treatment ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:16741035|REF_RGD_ID:8662284 12377803 EDN1 endothelin 1 gene DOID:114 heart disease ISO RGD:2532 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:heart left ventricle, plasma PMID:16810072|REF_RGD_ID:4892599 12377803 EDN1 endothelin 1 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:20647310|REF_RGD_ID:4144841 12377803 EDN1 endothelin 1 gene DOID:11823 hepatorenal syndrome ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7967349 12377803 EDN1 endothelin 1 gene DOID:1184 nephrotic syndrome ISO RGD:730848 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:34783119 12377803 EDN1 endothelin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2532 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased secretion:serum (rat) PMID:19000375|REF_RGD_ID:2302065 12377803 EDN1 endothelin 1 gene DOID:12217 Lewy body dementia ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 12377803 EDN1 endothelin 1 gene DOID:1222 cartilage disease ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20707411 12377803 EDN1 endothelin 1 gene DOID:1287 cardiovascular system disease ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16332659 12377803 EDN1 endothelin 1 gene DOID:12930 dilated cardiomyopathy severity ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:aorta, plasma (human) PMID:10026353|REF_RGD_ID:8661756 12377803 EDN1 endothelin 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16191423 12377803 EDN1 endothelin 1 gene DOID:13241 Behcet's disease ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:9132327|REF_RGD_ID:8661801 12377803 EDN1 endothelin 1 gene DOID:13544 low tension glaucoma ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:21946544|REF_RGD_ID:8661736 12377803 EDN1 endothelin 1 gene DOID:13550 angle-closure glaucoma ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:21946544|REF_RGD_ID:8661736 12377803 EDN1 endothelin 1 gene DOID:13641 exfoliation syndrome ISO RGD:730848 D RGD:9068941 20200609 RGD associated with Cataract;protein:increased expression:aqueous humor (human) PMID:15031170|REF_RGD_ID:8661674 12377803 EDN1 endothelin 1 gene DOID:14330 Parkinson's disease ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 12377803 EDN1 endothelin 1 gene DOID:1470 major depressive disorder ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29175309 12377803 EDN1 endothelin 1 gene DOID:1485 cystic fibrosis ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:sputum (human) PMID:10445603|REF_RGD_ID:4145062 12377803 EDN1 endothelin 1 gene DOID:1682 congenital heart disease ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9671575 12377803 EDN1 endothelin 1 gene DOID:1687 neovascular glaucoma ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor (human) PMID:20373895|REF_RGD_ID:8661689 12377803 EDN1 endothelin 1 gene DOID:1875 impotence ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17420087|REF_RGD_ID:2292142 12377803 EDN1 endothelin 1 gene DOID:1875 impotence ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12002441 12377803 EDN1 endothelin 1 gene DOID:1891 optic nerve disease ISO RGD:730848 D RGD:9068941 20200609 RGD human protein in a rat model PMID:18442442|REF_RGD_ID:8661688 12377803 EDN1 endothelin 1 gene DOID:1924 hypogonadism ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:testis (rat) PMID:17880366|REF_RGD_ID:4833436 12377803 EDN1 endothelin 1 gene DOID:1936 atherosclerosis treatment ISO RGD:10499 D RGD:9068941 20200609 RGD PMID:16806235|REF_RGD_ID:8661682 12377803 EDN1 endothelin 1 gene DOID:2316 brain ischemia ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:8113329|REF_RGD_ID:4144887 12377803 EDN1 endothelin 1 gene DOID:2377 multiple sclerosis ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:12646761|REF_RGD_ID:8661710 12377803 EDN1 endothelin 1 gene DOID:2388 renal artery disease ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA:increased expression:afferent arteriole of kidney (rat) PMID:10217661|REF_RGD_ID:8662320 12377803 EDN1 endothelin 1 gene DOID:2527 nephrosis ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus (rat) PMID:9175058|REF_RGD_ID:4144855 12377803 EDN1 endothelin 1 gene DOID:2527 nephrosis ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7756592 12377803 EDN1 endothelin 1 gene DOID:2799 bronchiolitis obliterans ISO RGD:730848 D RGD:9068941 20200609 RGD human gene in a rat model PMID:9595474|REF_RGD_ID:8662402 12377803 EDN1 endothelin 1 gene DOID:2841 asthma ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16981460 12377803 EDN1 endothelin 1 gene DOID:2841 asthma ISO RGD:730848 D RGD:9068941 20200609 RGD DNA:transition:intron:g.4124T>C (human) PMID:11668616|REF_RGD_ID:4144869 12377803 EDN1 endothelin 1 gene DOID:2841 asthma ISO RGD:730848 D RGD:9068941 20200609 RGD Severe Persistent Allergic Asthma; protein:increased secretion:lung (human) PMID:20588001|REF_RGD_ID:4144895 12377803 EDN1 endothelin 1 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus (rat) PMID:8569091|REF_RGD_ID:4144848 12377803 EDN1 endothelin 1 gene DOID:2920 membranoproliferative glomerulonephritis treatment ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:11601021|REF_RGD_ID:8662296 12377803 EDN1 endothelin 1 gene DOID:3021 acute kidney failure ISO RGD:10499 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (mouse) PMID:19967049|REF_RGD_ID:4144852 12377803 EDN1 endothelin 1 gene DOID:3021 acute kidney failure ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9788586 12377803 EDN1 endothelin 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730848 D RGD:9068941 20200609 RGD DNA:insertion, transversion:5' utr, exon:c.138_139insA, p.K198N (human) PMID:20707291|REF_RGD_ID:4144868 12377803 EDN1 endothelin 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:sputum (human) PMID:10445603|REF_RGD_ID:4145062 12377803 EDN1 endothelin 1 gene DOID:3393 coronary artery disease ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:atherosclerotic lesions (human) PMID:7968078|REF_RGD_ID:4144886 12377803 EDN1 endothelin 1 gene DOID:3393 coronary artery disease severity ISO RGD:730848 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:missense mutation:cds:p.L198N (human) PMID:18923236|REF_RGD_ID:8661705 12377803 EDN1 endothelin 1 gene DOID:3393 coronary artery disease treatment ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:11927217|REF_RGD_ID:8662294 12377803 EDN1 endothelin 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17197033 12377803 EDN1 endothelin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:lung, airway epithelium, leukocyte (rat) PMID:9279246|REF_RGD_ID:4144892 12377803 EDN1 endothelin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17235729 12377803 EDN1 endothelin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:730848 D RGD:9068941 20200609 RGD Cryptogenic Fibrosing Alveolitis; mRNA, protein:increased expression:lung, pneumocyte, airway epithelium (human) PMID:8099638|REF_RGD_ID:4144889 12377803 EDN1 endothelin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:730848 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic; protein:increased expression:lung (human) PMID:9284832|REF_RGD_ID:4144866 12377803 EDN1 endothelin 1 gene DOID:4001 ovarian carcinoma ISO RGD:730848 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovarian tumor (human) PMID:9973223|REF_RGD_ID:4144954 12377803 EDN1 endothelin 1 gene DOID:418 systemic scleroderma ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:7653485|REF_RGD_ID:4145072 12377803 EDN1 endothelin 1 gene DOID:4248 coronary stenosis treatment ISO RGD:730848 D RGD:9068941 20200609 RGD PMID:10854676|REF_RGD_ID:8661796 12377803 EDN1 endothelin 1 gene DOID:4676 uremia ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:11518857|REF_RGD_ID:8662310 12377803 EDN1 endothelin 1 gene DOID:5082 liver cirrhosis ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:20628429|REF_RGD_ID:4144843 12377803 EDN1 endothelin 1 gene DOID:5199 ureteral obstruction ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:renal tubule, renal interstitium (rat) PMID:12887768|REF_RGD_ID:8662268 12377803 EDN1 endothelin 1 gene DOID:5199 ureteral obstruction ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26207612 12377803 EDN1 endothelin 1 gene DOID:5327 retinal detachment ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:23974951|REF_RGD_ID:8661680 12377803 EDN1 endothelin 1 gene DOID:552 pneumonia severity ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:20529344|REF_RGD_ID:4144879 12377803 EDN1 endothelin 1 gene DOID:557 kidney disease ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10399635|PMID:15106802|PMID:8604712 12377803 EDN1 endothelin 1 gene DOID:5844 myocardial infarction ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle (rat) PMID:10573185|REF_RGD_ID:1580921 12377803 EDN1 endothelin 1 gene DOID:5844 myocardial infarction severity ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:17893002|REF_RGD_ID:4144880 12377803 EDN1 endothelin 1 gene DOID:5845 anterolateral myocardial infarction ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:aortic root, coronary sinus, plasma (human) PMID:12581682|REF_RGD_ID:8661757 12377803 EDN1 endothelin 1 gene DOID:6000 congestive heart failure ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart: PMID:10199843|REF_RGD_ID:7244167 12377803 EDN1 endothelin 1 gene DOID:6000 congestive heart failure ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11136700|PMID:11707688|PMID:16360360|PMID:16762801|PMID:7967349|PMID:7969316|PMID:9861300 12377803 EDN1 endothelin 1 gene DOID:6000 congestive heart failure severity ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:8149524|REF_RGD_ID:4144845 12377803 EDN1 endothelin 1 gene DOID:6000 congestive heart failure treatment ISO RGD:730848 D RGD:9068941 20200609 RGD PMID:10973842|REF_RGD_ID:8661798 12377803 EDN1 endothelin 1 gene DOID:630 genetic disease ISO RGD:730848 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12377803 EDN1 endothelin 1 gene DOID:6432 pulmonary hypertension ISO RGD:10499 D RGD:9068941 20200609 RGD Hypertension, Heritable Pulmonary Artery; mRNA:increased expression:bone marrow, macrophage (mouse) PMID:20562228|REF_RGD_ID:4144877 12377803 EDN1 endothelin 1 gene DOID:6432 pulmonary hypertension ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:20889845|REF_RGD_ID:4144128 12377803 EDN1 endothelin 1 gene DOID:6432 pulmonary hypertension ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12391278|PMID:20929026|PMID:20967148|PMID:7549228|PMID:9918753 12377803 EDN1 endothelin 1 gene DOID:6432 pulmonary hypertension ISO RGD:730848 D RGD:9068941 20200609 RGD Hypertension, Portopulmonary; protein:increased secretion:plasma (human) PMID:20498147|REF_RGD_ID:4144882 12377803 EDN1 endothelin 1 gene DOID:6432 pulmonary hypertension ISO RGD:730848 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive; protein:increased secretion:plasma (human) PMID:20890431|REF_RGD_ID:4144865 12377803 EDN1 endothelin 1 gene DOID:6713 cerebrovascular disease ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17578707 12377803 EDN1 endothelin 1 gene DOID:7148 rheumatoid arthritis treatment ISO RGD:730848 D RGD:9068941 20200609 RGD PMID:22249931|REF_RGD_ID:8661695 12377803 EDN1 endothelin 1 gene DOID:750 peptic ulcer disease ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16384872 12377803 EDN1 endothelin 1 gene DOID:77 gastrointestinal system disease ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16324314 12377803 EDN1 endothelin 1 gene DOID:783 end stage renal disease ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:8441230|REF_RGD_ID:4144849 12377803 EDN1 endothelin 1 gene DOID:8252 chronic rhinitis ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:inferior turbinate, nasal gland, inflammatory cell (human) PMID:8845175|REF_RGD_ID:8661738 12377803 EDN1 endothelin 1 gene DOID:8466 retinal degeneration ISO RGD:10499 D RGD:9068941 20200609 RGD PMID:22729434|REF_RGD_ID:8661730 12377803 EDN1 endothelin 1 gene DOID:8466 retinal degeneration ISO RGD:10499 D RGD:9068941 20200609 RGD protein:altered expression:retinal pigment epithelium, outer plexiform layer, retinal astrocyte (mouse) PMID:16129094|REF_RGD_ID:8661732 12377803 EDN1 endothelin 1 gene DOID:8805 intermediate coronary syndrome ISO RGD:730848 D RGD:9068941 20200609 RGD associated with Coronary Artery Disease;protein:increased expression:coronary sinus, plasma (human) PMID:14556009|REF_RGD_ID:8661755 12377803 EDN1 endothelin 1 gene DOID:8947 diabetic retinopathy ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (rat) PMID:20628425|REF_RGD_ID:9068929 12377803 EDN1 endothelin 1 gene DOID:8947 diabetic retinopathy ISO RGD:730848 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased secretion:plasma PMID:19293263|REF_RGD_ID:2313279 12377803 EDN1 endothelin 1 gene DOID:8947 diabetic retinopathy ISO RGD:730848 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:exon:p.K198N (human) PMID:18806884|REF_RGD_ID:2313281 12377803 EDN1 endothelin 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:730848 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (human) PMID:12629276|REF_RGD_ID:4144854 12377803 EDN1 endothelin 1 gene DOID:900 hepatopulmonary syndrome ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased secretion:liver, plasma (rat) PMID:15185300|REF_RGD_ID:4144891 12377803 EDN1 endothelin 1 gene DOID:9000040 Hypertrophy ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12791704|PMID:20177073 12377803 EDN1 endothelin 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12011762|PMID:15838369 12377803 EDN1 endothelin 1 gene DOID:9000208 Auriculocondylar Syndrome ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12377803 EDN1 endothelin 1 gene DOID:9000307 Presbycusis susceptibility ISO RGD:730848 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L198N (rs5370) (human) PMID:19358249|REF_RGD_ID:8661662 12377803 EDN1 endothelin 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8587695 12377803 EDN1 endothelin 1 gene DOID:9000590 Dyspnea ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased secretion:urine (human) PMID:18831711|REF_RGD_ID:4145071 12377803 EDN1 endothelin 1 gene DOID:9000641 Pain ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19429182|PMID:20042899 12377803 EDN1 endothelin 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15486036 12377803 EDN1 endothelin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:10499 D RGD:9068941 20200609 RGD PMID:12941866|REF_RGD_ID:734914 12377803 EDN1 endothelin 1 gene DOID:9001090 Question Mark Ears, Isolated ISO RGD:730848 D RGD:7240710 20180130 OMIM 12377803 EDN1 endothelin 1 gene DOID:9001090 Question Mark Ears, Isolated ISO RGD:730848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Question mark ears, isolated PMID:23315542|PMID:24268655|PMID:28492532 12377803 EDN1 endothelin 1 gene DOID:9001443 Hypercapnia ISO RGD:10499 D RGD:9068941 20200609 RGD PMID:8764295|REF_RGD_ID:4144902 12377803 EDN1 endothelin 1 gene DOID:9001443 Hypercapnia ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (rat) PMID:11230327|REF_RGD_ID:4144885 12377803 EDN1 endothelin 1 gene DOID:9001542 Albuminuria ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:renal papilla (rat) PMID:20666571|REF_RGD_ID:4144838 12377803 EDN1 endothelin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12609069 12377803 EDN1 endothelin 1 gene DOID:9001614 Chronic Tubulointerstitial Nephropathy ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (rat) PMID:9893116|REF_RGD_ID:8662387 12377803 EDN1 endothelin 1 gene DOID:9001650 Pregnancy-Induced Hypertension ISO RGD:730848 D RGD:9068941 20200609 RGD DNA:transversion:exon:p.K198N rs5370 (human) PMID:19730395|REF_RGD_ID:4145063 12377803 EDN1 endothelin 1 gene DOID:9001650 Pregnancy-Induced Hypertension no_association ISO RGD:730848 D RGD:9068941 20200609 RGD DNA:transversion:exon:p.K198N rs5370 (human) PMID:11593097|REF_RGD_ID:4145070 12377803 EDN1 endothelin 1 gene DOID:9001809 Urinary Retention ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15371886 12377803 EDN1 endothelin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730848 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased secretion:plasma (human) PMID:18346810|REF_RGD_ID:2313284 12377803 EDN1 endothelin 1 gene DOID:9002211 Hyperalgesia ISO RGD:10499 D RGD:9068941 20200609 RGD mRNA:increased expression:paw skin (mouse) PMID:23347081|REF_RGD_ID:8661716 12377803 EDN1 endothelin 1 gene DOID:9002211 Hyperalgesia ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19429182 12377803 EDN1 endothelin 1 gene DOID:9002211 Hyperalgesia susceptibility ISO RGD:10499 D RGD:9068941 20200609 RGD PMID:15664691|REF_RGD_ID:8661735 12377803 EDN1 endothelin 1 gene DOID:9002457 Experimental Arthritis ISO RGD:10499 D RGD:9068941 20200609 RGD mRNA:increased expression:inguinal lymph node (mouse) PMID:22249931|REF_RGD_ID:8661695 12377803 EDN1 endothelin 1 gene DOID:9002646 Auriculocondylar Syndrome 3 ISO RGD:730848 D RGD:7240710 20180130 OMIM 12377803 EDN1 endothelin 1 gene DOID:9002646 Auriculocondylar Syndrome 3 ISO RGD:730848 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Auriculocondylar syndrome 3 PMID:12244558|PMID:17357073|PMID:18288492|PMID:23315542|PMID:24268655|PMID:25741868|PMID:28492532 12377803 EDN1 endothelin 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20707411 12377803 EDN1 endothelin 1 gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:11430925|REF_RGD_ID:8662299 12377803 EDN1 endothelin 1 gene DOID:9003507 Premature Birth ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25230003 12377803 EDN1 endothelin 1 gene DOID:9003936 Cardiomegaly ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22198280 12377803 EDN1 endothelin 1 gene DOID:9003936 Cardiomegaly severity ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:heart ventricle, plasma (rat) PMID:7771559|REF_RGD_ID:8661803 12377803 EDN1 endothelin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:18722366|REF_RGD_ID:4892577 12377803 EDN1 endothelin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17470888 12377803 EDN1 endothelin 1 gene DOID:9004484 Sepsis ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:multiple (rat) PMID:10838194|REF_RGD_ID:8662298 12377803 EDN1 endothelin 1 gene DOID:9004610 Acute Lung Injury ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16625121 12377803 EDN1 endothelin 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle (rat) PMID:10543394|REF_RGD_ID:8661692 12377803 EDN1 endothelin 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10601118|PMID:15486036 12377803 EDN1 endothelin 1 gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:10601118|REF_RGD_ID:8662288 12377803 EDN1 endothelin 1 gene DOID:9005005 Oral Ulcer ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16391412 12377803 EDN1 endothelin 1 gene DOID:9005372 Inflammation ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23451061 12377803 EDN1 endothelin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10499 D RGD:9068941 20200609 RGD PMID:18351623|REF_RGD_ID:2312288 12377803 EDN1 endothelin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA:increased expression:heart, kidney, retina (rat) PMID:18516100|REF_RGD_ID:2313282 12377803 EDN1 endothelin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12458661|PMID:12967931 12377803 EDN1 endothelin 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:18351623|REF_RGD_ID:2312288 12377803 EDN1 endothelin 1 gene DOID:9005930 Endotoxemia ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (rat) PMID:11206318|REF_RGD_ID:8662297 12377803 EDN1 endothelin 1 gene DOID:9006024 Hypotension ISO RGD:10499 D RGD:9068941 20200609 RGD PMID:20516397|REF_RGD_ID:4144881 12377803 EDN1 endothelin 1 gene DOID:9006024 Hypotension ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10399635|PMID:1309933 12377803 EDN1 endothelin 1 gene DOID:9007001 Bradycardia ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1309933|PMID:8440307 12377803 EDN1 endothelin 1 gene DOID:9007095 Pneumoperitoneum ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, peritubular capillary, proximal tubule (rat) PMID:11285964|REF_RGD_ID:8662302 12377803 EDN1 endothelin 1 gene DOID:9007096 Stroke ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20083630 12377803 EDN1 endothelin 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10462014|PMID:11707688|PMID:16306806 12377803 EDN1 endothelin 1 gene DOID:9007480 Hyperoxia ISO RGD:2532 D RGD:9068941 20200609 RGD protein:altered expression:lung (rat) PMID:20589171|REF_RGD_ID:4144857 12377803 EDN1 endothelin 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194819 12377803 EDN1 endothelin 1 gene DOID:9007651 Chronic Bronchitis ISO RGD:10499 D RGD:9068941 20200609 RGD Chronic Allergic Airway Inflammation; protein:increased secretion:bronchoalveolar lavage (mouse) PMID:18631350|REF_RGD_ID:4145074 12377803 EDN1 endothelin 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:18586023|REF_RGD_ID:4892580 12377803 EDN1 endothelin 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15642760|PMID:16700825 12377803 EDN1 endothelin 1 gene DOID:9008091 Optic Nerve Injuries ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18600494|REF_RGD_ID:4892579 12377803 EDN1 endothelin 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:10499 D RGD:9068941 20200609 RGD PMID:8152482|REF_RGD_ID:734913 12377803 EDN1 endothelin 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10100047|PMID:20707411|PMID:8152482|PMID:9671575 12377803 EDN1 endothelin 1 gene DOID:9008848 Slow Coronary Flow ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma, coronary sinus, femoral artery (human) PMID:15336804|REF_RGD_ID:9684971 12377803 EDN1 endothelin 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10693666|PMID:9473106 12377803 EDN1 endothelin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:mesenteric artery PMID:19286964|REF_RGD_ID:2313280 12377803 EDN1 endothelin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16387788 12377803 EDN1 endothelin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730848 D RGD:9068941 20200609 RGD mRNA:increased expression:blood vessel endothelial cell PMID:19581418|REF_RGD_ID:2313278 12377803 EDN1 endothelin 1 gene DOID:9477 pulmonary embolism severity ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (rat) PMID:20559433|REF_RGD_ID:4144858 12377803 EDN1 endothelin 1 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:23974951|REF_RGD_ID:8661680 12377803 EDN1 endothelin 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:2198188|REF_RGD_ID:4144835 12377803 EDN1 endothelin 1 gene DOID:9970 obesity ISO RGD:730848 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.K198N (human) PMID:17444275|REF_RGD_ID:1625065 12377812 TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 gene DOID:0050453 lissencephaly ISO RGD:1605568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12377812 TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 gene DOID:0050777 Joubert syndrome ISO RGD:1605568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:19764032|PMID:23954617|PMID:27821535|PMID:28492532 12377812 TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 gene DOID:0112233 lissencephaly 8 ISO RGD:1605568 D RGD:7240710 20190315 OMIM 12377812 TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 gene DOID:0112233 lissencephaly 8 ISO RGD:1605568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly 8 PMID:25741868|PMID:27773428|PMID:28097321|PMID:28492532|PMID:28973161 12377812 TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 gene DOID:630 genetic disease ISO RGD:1605568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12377836 FBP2 fructose-bisphosphatase 2 gene DOID:12642 hiatus hernia ISO RGD:732425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hiatus hernia 12377836 FBP2 fructose-bisphosphatase 2 gene DOID:630 genetic disease ISO RGD:732425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377836 FBP2 fructose-bisphosphatase 2 gene DOID:9004590 Acute Liver Failure ISO RGD:732425 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 12377836 FBP2 fructose-bisphosphatase 2 gene DOID:9005894 Childhood-Onset Remitting Leukodystrophy ISO RGD:732425 D RGD:7240710 20220518 OMIM 12377836 FBP2 fructose-bisphosphatase 2 gene DOID:9005894 Childhood-Onset Remitting Leukodystrophy ISO RGD:732425 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, childhood-onset, remitting PMID:33977262 12377847 LOC478184 pre-mRNA-splicing factor SYF2 gene DOID:630 genetic disease ISO RGD:1603674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377847 LOC478184 pre-mRNA-splicing factor SYF2 gene DOID:9588 encephalitis ISO RGD:621592 D RGD:9068941 20200609 RGD PMID:24301298|REF_RGD_ID:10059414 12377858 MNS1 meiosis specific nuclear structural 1 gene DOID:2717 Bloom syndrome ISO RGD:1605067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12377858 MNS1 meiosis specific nuclear structural 1 gene DOID:630 genetic disease ISO RGD:1605067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377858 MNS1 meiosis specific nuclear structural 1 gene DOID:9003544 Visceral Heterotaxy 9, Autosomal ISO RGD:1605067 D RGD:7240710 20200812 OMIM 12377858 MNS1 meiosis specific nuclear structural 1 gene DOID:9003544 Visceral Heterotaxy 9, Autosomal ISO RGD:1605067 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 9, autosomal, with male infertility PMID:25741868|PMID:28492532|PMID:30148830|PMID:31534215 12377858 MNS1 meiosis specific nuclear structural 1 gene DOID:9256 colorectal cancer ISO RGD:1605067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12377872 TERF2IP TERF2 interacting protein gene DOID:0110989 Joubert syndrome 20 ISO RGD:36174194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 20 PMID:23012439|PMID:23349226|PMID:28492532 12377872 TERF2IP TERF2 interacting protein gene DOID:630 genetic disease ISO RGD:36174194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12377879 LOC479708 S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12377879 LOC479708 S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1 gene DOID:630 genetic disease ISO RGD:1345301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377899 ZNF644 zinc finger protein 644 gene DOID:630 genetic disease ISO RGD:1604575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12377899 ZNF644 zinc finger protein 644 gene DOID:9003525 Myopia 21, Autosomal Dominant ISO RGD:1604575 D RGD:7240710 20180130 OMIM 12377899 ZNF644 zinc finger protein 644 gene DOID:9003525 Myopia 21, Autosomal Dominant ISO RGD:1604575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia 21, autosomal dominant PMID:21695231|PMID:25741868 12377938 CPD carboxypeptidase D gene DOID:0111253 neurofibromatosis 1 ISO RGD:731463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 12377938 CPD carboxypeptidase D gene DOID:630 genetic disease ISO RGD:731463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377963 MEGF9 multiple EGF like domains 9 gene DOID:630 genetic disease ISO RGD:1342735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377973 CILK1 ciliogenesis associated kinase 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1345110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:27466187 12377973 CILK1 ciliogenesis associated kinase 1 gene DOID:0060641 endocrine-cerebro-osteodysplasia syndrome ISO RGD:1345110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endocrine-cerebro-osteodysplasia syndrome PMID:19185282|PMID:25741868|PMID:25741883|PMID:27069622|PMID:28492532 12377973 CILK1 ciliogenesis associated kinase 1 gene DOID:0060641 endocrine-cerebro-osteodysplasia syndrome susceptibility ISO RGD:1345110 D RGD:7240710 20230517 OMIM 12377973 CILK1 ciliogenesis associated kinase 1 gene DOID:0111325 juvenile myoclonic epilepsy 10 susceptibility ISO RGD:1345110 D RGD:7240710 20230517 OMIM 12377973 CILK1 ciliogenesis associated kinase 1 gene DOID:12270 coloboma ISO RGD:1345110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:25741868 12377973 CILK1 ciliogenesis associated kinase 1 gene DOID:1826 epilepsy ISO RGD:1345110 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12377973 CILK1 ciliogenesis associated kinase 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1345110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, juvenile myoclonic, susceptibility to, 10 | ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532|PMID:29539279 12377973 CILK1 ciliogenesis associated kinase 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1345110 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Epilepsy, juvenile myoclonic, susceptibility to, 10 PMID:25741868|PMID:28492532|PMID:29539279|PMID:32178256 12377973 CILK1 ciliogenesis associated kinase 1 gene DOID:630 genetic disease ISO RGD:1345110 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377995 DDX51 DEAD-box helicase 51 gene DOID:1790 malignant mesothelioma ISO RGD:1319993 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 12377995 DDX51 DEAD-box helicase 51 gene DOID:630 genetic disease ISO RGD:1319993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12377995 DDX51 DEAD-box helicase 51 gene DOID:9256 colorectal cancer ISO RGD:1319993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 12378014 OR4N5 olfactory receptor family 4 subfamily N member 5 gene DOID:630 genetic disease ISO RGD:1322544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378017 ICE1 interactor of little elongation complex ELL subunit 1 gene DOID:630 genetic disease ISO RGD:2311267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378040 NELFB negative elongation factor complex member B gene DOID:0050777 Joubert syndrome ISO RGD:1603677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12378040 NELFB negative elongation factor complex member B gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1603677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12378040 NELFB negative elongation factor complex member B gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1603677 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12378040 NELFB negative elongation factor complex member B gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1603677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12378040 NELFB negative elongation factor complex member B gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1603677 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12378040 NELFB negative elongation factor complex member B gene DOID:0081097 Rafiq syndrome ISO RGD:1603677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12378040 NELFB negative elongation factor complex member B gene DOID:1826 epilepsy ISO RGD:1603677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12378040 NELFB negative elongation factor complex member B gene DOID:630 genetic disease ISO RGD:1603677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378040 NELFB negative elongation factor complex member B gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1603677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12378085 VGLL4 vestigial like family member 4 gene DOID:630 genetic disease ISO RGD:1323223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378085 VGLL4 vestigial like family member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12378114 ITGB5 integrin subunit beta 5 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1349145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12378114 ITGB5 integrin subunit beta 5 gene DOID:50 thyroid gland disease ISO RGD:1349145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 12378114 ITGB5 integrin subunit beta 5 gene DOID:630 genetic disease ISO RGD:1349145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378114 ITGB5 integrin subunit beta 5 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1349145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12378114 ITGB5 integrin subunit beta 5 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1349145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 12378114 ITGB5 integrin subunit beta 5 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1349145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12378114 ITGB5 integrin subunit beta 5 gene DOID:9270 alkaptonuria ISO RGD:1349145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12378133 IGF1 insulin like growth factor 1 gene DOID:0050328 congenital hypothyroidism ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:1718729|REF_RGD_ID:12910128 12378133 IGF1 insulin like growth factor 1 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebellum (rat) PMID:16909201|REF_RGD_ID:12904886 12378133 IGF1 insulin like growth factor 1 gene DOID:0050827 rheumatic heart disease ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16406300|REF_RGD_ID:1582623 12378133 IGF1 insulin like growth factor 1 gene DOID:0060180 colitis ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24782617 12378133 IGF1 insulin like growth factor 1 gene DOID:0080038 pycnodysostosis ISO RGD:70506 D RGD:9068941 20200609 RGD associated with Dwarfism; PMID:11474477|REF_RGD_ID:8548826 12378133 IGF1 insulin like growth factor 1 gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:2868 D RGD:9068941 20200609 RGD associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat) PMID:24275070|REF_RGD_ID:12904726 12378133 IGF1 insulin like growth factor 1 gene DOID:0080539 PEHO syndrome ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid: PMID:11701291|REF_RGD_ID:8548849 12378133 IGF1 insulin like growth factor 1 gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:19207313|REF_RGD_ID:12910858 12378133 IGF1 insulin like growth factor 1 gene DOID:0081120 Graves ophthalmopathy ISO RGD:70506 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased excretion:orbital tissue: PMID:22159761|REF_RGD_ID:8548854 12378133 IGF1 insulin like growth factor 1 gene DOID:10124 corneal disease ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12824234 12378133 IGF1 insulin like growth factor 1 gene DOID:1059 intellectual disability ISO RGD:70506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12378133 IGF1 insulin like growth factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:10765 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus: PMID:23740209|REF_RGD_ID:10045852 12378133 IGF1 insulin like growth factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15750215 12378133 IGF1 insulin like growth factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:70506 D RGD:9068941 20200609 RGD protein:altered expression:plasma,cerebral spinal fluid: PMID:24301648|REF_RGD_ID:10045853 12378133 IGF1 insulin like growth factor 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:10765 D RGD:9068941 20200609 RGD protein:altered expression:plasma,cerebral spinal fluid: PMID:24301648|REF_RGD_ID:10045853 12378133 IGF1 insulin like growth factor 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24054991|REF_RGD_ID:10045860 12378133 IGF1 insulin like growth factor 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:70506 D RGD:9068941 20200609 RGD DNA:polymorphism:intron: rs972936(human) PMID:23089282|REF_RGD_ID:10045854 12378133 IGF1 insulin like growth factor 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:10399774|REF_RGD_ID:10402576 12378133 IGF1 insulin like growth factor 1 gene DOID:10763 hypertension ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:15996002|REF_RGD_ID:1580474 12378133 IGF1 insulin like growth factor 1 gene DOID:10763 hypertension ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta (rat) PMID:8418983|REF_RGD_ID:12904968 12378133 IGF1 insulin like growth factor 1 gene DOID:10763 hypertension ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19502719|PMID:22228705 12378133 IGF1 insulin like growth factor 1 gene DOID:10763 hypertension severity ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16431135|REF_RGD_ID:1598427 12378133 IGF1 insulin like growth factor 1 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:70506 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:endothelial cell: PMID:12714661|REF_RGD_ID:10045893 12378133 IGF1 insulin like growth factor 1 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor of eyeball: PMID:24106111|REF_RGD_ID:10045867 12378133 IGF1 insulin like growth factor 1 gene DOID:10907 microcephaly ISO RGD:70506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12378133 IGF1 insulin like growth factor 1 gene DOID:11054 urinary bladder cancer ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19415693 12378133 IGF1 insulin like growth factor 1 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20013271|REF_RGD_ID:10755701 12378133 IGF1 insulin like growth factor 1 gene DOID:11476 osteoporosis ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:10499542|REF_RGD_ID:10003127 12378133 IGF1 insulin like growth factor 1 gene DOID:11476 osteoporosis ISO RGD:2868 D RGD:9068941 20200609 RGD associated with Cholestasis PMID:19424739|REF_RGD_ID:10003131 12378133 IGF1 insulin like growth factor 1 gene DOID:11476 osteoporosis ISO RGD:2868 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:1466160|REF_RGD_ID:10003132 12378133 IGF1 insulin like growth factor 1 gene DOID:11476 osteoporosis treatment ISO RGD:2868 D RGD:9068941 20200609 RGD associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast PMID:17647196|REF_RGD_ID:10003128 12378133 IGF1 insulin like growth factor 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:15653207|REF_RGD_ID:8549491 12378133 IGF1 insulin like growth factor 1 gene DOID:11830 myopia no_association ISO RGD:70506 D RGD:9068941 20200609 RGD DNA:SNPS: :rs10860860, rs2946834,rs6214(human) PMID:21976954|REF_RGD_ID:8548829 12378133 IGF1 insulin like growth factor 1 gene DOID:11830 myopia susceptibility ISO RGD:70506 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: : rs12423791,rs5742629(human) PMID:22509095|REF_RGD_ID:8548838 12378133 IGF1 insulin like growth factor 1 gene DOID:11830 myopia susceptibility ISO RGD:70506 D RGD:9068941 20200609 RGD DNA:SNPS: :rs10860860, rs2946834,rs6214(human) PMID:20435602|REF_RGD_ID:8548828 12378133 IGF1 insulin like growth factor 1 gene DOID:11830 myopia susceptibility ISO RGD:70506 D RGD:9068941 20200609 RGD DNA:haplotype: :rs12423791,rs7956547,rs5742632(human) PMID:22332214|REF_RGD_ID:8548827 12378133 IGF1 insulin like growth factor 1 gene DOID:11984 hypertrophic cardiomyopathy severity ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:12135130|REF_RGD_ID:1598422 12378133 IGF1 insulin like growth factor 1 gene DOID:12132 granulomatosis with polyangiitis ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity mucosa, blood vessel: PMID:2772560|REF_RGD_ID:8548880 12378133 IGF1 insulin like growth factor 1 gene DOID:12361 Graves' disease ISO RGD:70506 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:thyroid gland: PMID:9857239|REF_RGD_ID:8548837 12378133 IGF1 insulin like growth factor 1 gene DOID:12689 acoustic neuroma susceptibility ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21788435|REF_RGD_ID:8548833 12378133 IGF1 insulin like growth factor 1 gene DOID:12849 autistic disorder ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17547689 12378133 IGF1 insulin like growth factor 1 gene DOID:12858 Huntington's disease ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:23384443|PMID:25140802|REF_RGD_ID:10045865|REF_RGD_ID:10045870 12378133 IGF1 insulin like growth factor 1 gene DOID:12858 Huntington's disease treatment ISO RGD:70506 D RGD:9068941 20200609 RGD human protein in a rat model PMID:15371744|REF_RGD_ID:12904970 12378133 IGF1 insulin like growth factor 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:11934830|REF_RGD_ID:1598419 12378133 IGF1 insulin like growth factor 1 gene DOID:13025 retinopathy of prematurity ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:16500767|REF_RGD_ID:8548852 12378133 IGF1 insulin like growth factor 1 gene DOID:13025 retinopathy of prematurity ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:20085549|REF_RGD_ID:8548825 12378133 IGF1 insulin like growth factor 1 gene DOID:13025 retinopathy of prematurity no_association ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:20214047|REF_RGD_ID:8548867 12378133 IGF1 insulin like growth factor 1 gene DOID:13580 cholestasis ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:18607346|REF_RGD_ID:10046052 12378133 IGF1 insulin like growth factor 1 gene DOID:13580 cholestasis ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12826230 12378133 IGF1 insulin like growth factor 1 gene DOID:14026 folic acid deficiency anemia ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:serum, cranial bone (rat) PMID:16111879|REF_RGD_ID:12910463 12378133 IGF1 insulin like growth factor 1 gene DOID:14183 alcoholic neuropathy ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:23016131|REF_RGD_ID:10402569 12378133 IGF1 insulin like growth factor 1 gene DOID:1459 hypothyroidism ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:1380443|REF_RGD_ID:12910458 12378133 IGF1 insulin like growth factor 1 gene DOID:1485 cystic fibrosis ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:respiratory tract epithelium (rat) PMID:22461702|REF_RGD_ID:12904899 12378133 IGF1 insulin like growth factor 1 gene DOID:1612 breast cancer susceptibility ISO RGD:2868 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:17584969|REF_RGD_ID:2315650 12378133 IGF1 insulin like growth factor 1 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:70506 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:19064563|REF_RGD_ID:2306689 12378133 IGF1 insulin like growth factor 1 gene DOID:224 transient cerebral ischemia severity ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:25098324|REF_RGD_ID:12904924 12378133 IGF1 insulin like growth factor 1 gene DOID:2316 brain ischemia ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:16882007|REF_RGD_ID:1598411 12378133 IGF1 insulin like growth factor 1 gene DOID:2316 brain ischemia ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:19332057|REF_RGD_ID:2306694 12378133 IGF1 insulin like growth factor 1 gene DOID:2349 arteriosclerosis ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:15625284|REF_RGD_ID:2313768 12378133 IGF1 insulin like growth factor 1 gene DOID:2449 acromegaly ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1682667|PMID:18381583|PMID:18388193|PMID:9186818 12378133 IGF1 insulin like growth factor 1 gene DOID:289 endometriosis ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12378133 IGF1 insulin like growth factor 1 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:70506 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 12378133 IGF1 insulin like growth factor 1 gene DOID:2962 Cockayne syndrome ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:17326724|REF_RGD_ID:10003139 12378133 IGF1 insulin like growth factor 1 gene DOID:2987 familial Mediterranean fever disease_progression ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:21428190|REF_RGD_ID:5508806 12378133 IGF1 insulin like growth factor 1 gene DOID:3021 acute kidney failure ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7540432 12378133 IGF1 insulin like growth factor 1 gene DOID:3070 high grade glioma severity ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21788435|REF_RGD_ID:8548833 12378133 IGF1 insulin like growth factor 1 gene DOID:3213 demyelinating disease ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9452187 12378133 IGF1 insulin like growth factor 1 gene DOID:3407 carotid artery disease ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16181175|REF_RGD_ID:1598446 12378133 IGF1 insulin like growth factor 1 gene DOID:3490 Noonan syndrome ISO RGD:10765 D RGD:9068941 20200609 RGD protein:decreased expression:serum (mouse) PMID:22371576|REF_RGD_ID:11352540 12378133 IGF1 insulin like growth factor 1 gene DOID:3490 Noonan syndrome treatment ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16263833|REF_RGD_ID:11063837 12378133 IGF1 insulin like growth factor 1 gene DOID:3491 Turner syndrome ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased activity:serum: PMID:17067837|REF_RGD_ID:12743588 12378133 IGF1 insulin like growth factor 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 12378133 IGF1 insulin like growth factor 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:20098680|REF_RGD_ID:2317639 12378133 IGF1 insulin like growth factor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15286697 12378133 IGF1 insulin like growth factor 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart (rat) PMID:11409163|REF_RGD_ID:12904929 12378133 IGF1 insulin like growth factor 1 gene DOID:3911 progeria treatment ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:20805469|REF_RGD_ID:10003141 12378133 IGF1 insulin like growth factor 1 gene DOID:4248 coronary stenosis ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA:increased expression:myocyte: PMID:8102103|REF_RGD_ID:10046053 12378133 IGF1 insulin like growth factor 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30594912 12378133 IGF1 insulin like growth factor 1 gene DOID:557 kidney disease ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8825380 12378133 IGF1 insulin like growth factor 1 gene DOID:574 peripheral nervous system disease ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8866126|PMID:9452187 12378133 IGF1 insulin like growth factor 1 gene DOID:5844 myocardial infarction ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium PMID:19295919|REF_RGD_ID:2306696 12378133 IGF1 insulin like growth factor 1 gene DOID:5844 myocardial infarction severity ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16635594|REF_RGD_ID:1598421 12378133 IGF1 insulin like growth factor 1 gene DOID:6000 congestive heart failure ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:12835956|REF_RGD_ID:1598415 12378133 IGF1 insulin like growth factor 1 gene DOID:6039 uveal melanoma disease_progression ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:23197685|REF_RGD_ID:8548834 12378133 IGF1 insulin like growth factor 1 gene DOID:630 genetic disease ISO RGD:70506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12378133 IGF1 insulin like growth factor 1 gene DOID:6543 acne ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:21054577|REF_RGD_ID:8549489 12378133 IGF1 insulin like growth factor 1 gene DOID:6543 acne ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7608381|REF_RGD_ID:8549457 12378133 IGF1 insulin like growth factor 1 gene DOID:6543 acne no_association ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:9347796|REF_RGD_ID:8549499 12378133 IGF1 insulin like growth factor 1 gene DOID:657 adenoma ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1611713 12378133 IGF1 insulin like growth factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12378133 IGF1 insulin like growth factor 1 gene DOID:767 muscular atrophy ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18467435 12378133 IGF1 insulin like growth factor 1 gene DOID:783 end stage renal disease ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10198369 12378133 IGF1 insulin like growth factor 1 gene DOID:8398 osteoarthritis ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:blood: PMID:2290165|REF_RGD_ID:10045857 12378133 IGF1 insulin like growth factor 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:2868 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:19171036|REF_RGD_ID:2306713 12378133 IGF1 insulin like growth factor 1 gene DOID:8725 vascular dementia ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus: PMID:22342912|REF_RGD_ID:10045864 12378133 IGF1 insulin like growth factor 1 gene DOID:8725 vascular dementia severity ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16181175|REF_RGD_ID:1598446 12378133 IGF1 insulin like growth factor 1 gene DOID:8778 Crohn's disease ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19751734 12378133 IGF1 insulin like growth factor 1 gene DOID:8893 psoriasis ISO RGD:70506 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:skin: PMID:21241374|REF_RGD_ID:8549492 12378133 IGF1 insulin like growth factor 1 gene DOID:8947 diabetic retinopathy ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17194636|REF_RGD_ID:2313764 12378133 IGF1 insulin like growth factor 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16873705|REF_RGD_ID:1598424 12378133 IGF1 insulin like growth factor 1 gene DOID:9000121 Malocclusion disease_progression ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:22758598|REF_RGD_ID:10045831 12378133 IGF1 insulin like growth factor 1 gene DOID:9000146 Plaque, Atherosclerotic treatment ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:17916769|REF_RGD_ID:8548877 12378133 IGF1 insulin like growth factor 1 gene DOID:9000528 Coronary Disease ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:15521962|REF_RGD_ID:1626121 12378133 IGF1 insulin like growth factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18398872 12378133 IGF1 insulin like growth factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:70506 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:19375852|REF_RGD_ID:2317643 12378133 IGF1 insulin like growth factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:70506 D RGD:9068941 20200609 RGD associated with Uveal Melanoma;protein:increased expression:serum: PMID:23197685|REF_RGD_ID:8548834 12378133 IGF1 insulin like growth factor 1 gene DOID:9000998 Brain Injuries treatment ISO RGD:70506 D RGD:9068941 20200609 RGD human protein in a rat model PMID:9344566|REF_RGD_ID:12904928 12378133 IGF1 insulin like growth factor 1 gene DOID:9001472 Nasal Polyps ISO RGD:70506 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity mucosa: PMID:18202785|REF_RGD_ID:8548875 12378133 IGF1 insulin like growth factor 1 gene DOID:9001542 Albuminuria susceptibility ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16645019|REF_RGD_ID:1598420 12378133 IGF1 insulin like growth factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2868 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:12800242|REF_RGD_ID:10045984 12378133 IGF1 insulin like growth factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15591519|PMID:15745444 12378133 IGF1 insulin like growth factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16434425|REF_RGD_ID:2317647 12378133 IGF1 insulin like growth factor 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:20198635|REF_RGD_ID:12904923 12378133 IGF1 insulin like growth factor 1 gene DOID:9001600 Wounds and Injuries ISO RGD:10765 D RGD:9068941 20200609 RGD associated with Rhinosinusitis; mRNA:increased expression:nose: PMID:20713758|REF_RGD_ID:8548883 12378133 IGF1 insulin like growth factor 1 gene DOID:9001600 Wounds and Injuries ISO RGD:2868 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:21296499|REF_RGD_ID:8549452 12378133 IGF1 insulin like growth factor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2868 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:serum (rat) PMID:10444029|REF_RGD_ID:12904967 12378133 IGF1 insulin like growth factor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17194636|REF_RGD_ID:2313764 12378133 IGF1 insulin like growth factor 1 gene DOID:9002209 Skull Fractures ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:12002507|REF_RGD_ID:8548865 12378133 IGF1 insulin like growth factor 1 gene DOID:9002211 Hyperalgesia ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9452187 12378133 IGF1 insulin like growth factor 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:19088829|REF_RGD_ID:2306715 12378133 IGF1 insulin like growth factor 1 gene DOID:9002231 Fetal Growth Retardation onset ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:placenta labyrinth (rat) PMID:24239160|REF_RGD_ID:12904720 12378133 IGF1 insulin like growth factor 1 gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:15506645|REF_RGD_ID:1600258 12378133 IGF1 insulin like growth factor 1 gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:70506 D RGD:9068941 20200609 RGD human protein in a rat model PMID:9284279|REF_RGD_ID:12910460 12378133 IGF1 insulin like growth factor 1 gene DOID:9002234 Pituitary Neoplasms ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1611713 12378133 IGF1 insulin like growth factor 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11014614 12378133 IGF1 insulin like growth factor 1 gene DOID:9002278 Metabolic Bone Diseases treatment ISO RGD:2868 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21567076|REF_RGD_ID:6907380 12378133 IGF1 insulin like growth factor 1 gene DOID:9002278 Metabolic Bone Diseases treatment ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:8619365|REF_RGD_ID:10402812 12378133 IGF1 insulin like growth factor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:2868 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:19171036|REF_RGD_ID:2306713 12378133 IGF1 insulin like growth factor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16465378|PMID:19208208|PMID:24586243 12378133 IGF1 insulin like growth factor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:9497937|REF_RGD_ID:10046057 12378133 IGF1 insulin like growth factor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:70506 D RGD:9068941 20200609 RGD mRNA:increased expression:meniscus: PMID:20633672|REF_RGD_ID:10045868 12378133 IGF1 insulin like growth factor 1 gene DOID:9002331 Knee Osteoarthritis disease_progression ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:8461919|REF_RGD_ID:10045862 12378133 IGF1 insulin like growth factor 1 gene DOID:9002331 Knee Osteoarthritis severity ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (rat) PMID:17133593|REF_RGD_ID:10003130 12378133 IGF1 insulin like growth factor 1 gene DOID:9002427 Fetal Macrosomia ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:17113804|REF_RGD_ID:12743591 12378133 IGF1 insulin like growth factor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19246225|REF_RGD_ID:2306697 12378133 IGF1 insulin like growth factor 1 gene DOID:9002514 Neointima ISO RGD:70506 D RGD:9068941 20200609 RGD associated with Hypertension PMID:12791939|REF_RGD_ID:1580477 12378133 IGF1 insulin like growth factor 1 gene DOID:9002739 Female Urogenital Diseases ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 12378133 IGF1 insulin like growth factor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:70506 D RGD:9068941 20200609 RGD human protein in a rat model PMID:7541143|REF_RGD_ID:6483353 12378133 IGF1 insulin like growth factor 1 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:18344903|REF_RGD_ID:12910457 12378133 IGF1 insulin like growth factor 1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16585854|REF_RGD_ID:8549455 12378133 IGF1 insulin like growth factor 1 gene DOID:9002916 Hyperphagia ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:17567960|REF_RGD_ID:10046043 12378133 IGF1 insulin like growth factor 1 gene DOID:9002955 Nerve Degeneration ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10203697|PMID:9452187 12378133 IGF1 insulin like growth factor 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12378133 IGF1 insulin like growth factor 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:19766709|REF_RGD_ID:10046049 12378133 IGF1 insulin like growth factor 1 gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:23694759|REF_RGD_ID:12904932 12378133 IGF1 insulin like growth factor 1 gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:11672597|REF_RGD_ID:8549456 12378133 IGF1 insulin like growth factor 1 gene DOID:9003817 Sudden Hearing Loss treatment ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:21108784|REF_RGD_ID:8548824 12378133 IGF1 insulin like growth factor 1 gene DOID:9003921 Zinc Deficiency ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:20404036|REF_RGD_ID:12904966 12378133 IGF1 insulin like growth factor 1 gene DOID:9003936 Cardiomegaly ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10547078 12378133 IGF1 insulin like growth factor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:16306169|REF_RGD_ID:1598442 12378133 IGF1 insulin like growth factor 1 gene DOID:9004091 Osteophytes ISO RGD:2868 D RGD:9068941 20200609 RGD associated with Acromegaly PMID:10499542|REF_RGD_ID:10003127 12378133 IGF1 insulin like growth factor 1 gene DOID:9004464 Skin Neoplasms ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24353828 12378133 IGF1 insulin like growth factor 1 gene DOID:9004464 Skin Neoplasms ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:9135074|REF_RGD_ID:8549453 12378133 IGF1 insulin like growth factor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18398872 12378133 IGF1 insulin like growth factor 1 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:11063288|REF_RGD_ID:10045861 12378133 IGF1 insulin like growth factor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:23342276|REF_RGD_ID:8549490 12378133 IGF1 insulin like growth factor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15217511|PMID:15528971|PMID:17584969 12378133 IGF1 insulin like growth factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10765 D RGD:9068941 20200609 RGD protein:decreased expression:oviduct PMID:18676006|REF_RGD_ID:2311502 12378133 IGF1 insulin like growth factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:corpus cavernosum: PMID:22133301|REF_RGD_ID:10046054 12378133 IGF1 insulin like growth factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:cerebellum, serum PMID:19382144|REF_RGD_ID:2306671 12378133 IGF1 insulin like growth factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:20555424|REF_RGD_ID:4142788 12378133 IGF1 insulin like growth factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24632065 12378133 IGF1 insulin like growth factor 1 gene DOID:9005768 Thinness ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:10578024|REF_RGD_ID:10045866 12378133 IGF1 insulin like growth factor 1 gene DOID:9005873 Tongue Neoplasms ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:blood: PMID:8493451|REF_RGD_ID:8548876 12378133 IGF1 insulin like growth factor 1 gene DOID:9005930 Endotoxemia ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:12217886|REF_RGD_ID:625688 12378133 IGF1 insulin like growth factor 1 gene DOID:9005930 Endotoxemia ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver, serum PMID:18492809|REF_RGD_ID:10402757 12378133 IGF1 insulin like growth factor 1 gene DOID:9005941 Rhinosinusitis ISO RGD:10765 D RGD:9068941 20200609 RGD mRNA:increased expression:nose: PMID:20713758|REF_RGD_ID:8548883 12378133 IGF1 insulin like growth factor 1 gene DOID:9006008 Closed Head Injuries ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:12002507|REF_RGD_ID:8548865 12378133 IGF1 insulin like growth factor 1 gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:21037532|REF_RGD_ID:8549460 12378133 IGF1 insulin like growth factor 1 gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:10090325|REF_RGD_ID:12904918 12378133 IGF1 insulin like growth factor 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:10765 D RGD:9068941 20200609 RGD protein:increased expression:serum,carotid artery: PMID:12490968|REF_RGD_ID:10046051 12378133 IGF1 insulin like growth factor 1 gene DOID:9006257 Growth Disorders ISO RGD:70506 D RGD:9068941 20200609 RGD IGF1 deficiency, OMIM:608747;DNA:deletion PMID:8857020|REF_RGD_ID:1624297 12378133 IGF1 insulin like growth factor 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20064577 12378133 IGF1 insulin like growth factor 1 gene DOID:9006877 Insulin-Like Growth Factor I Deficiency ISO RGD:70506 D RGD:7240710 20180130 OMIM 12378133 IGF1 insulin like growth factor 1 gene DOID:9006877 Insulin-Like Growth Factor I Deficiency ISO RGD:70506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth retardation with sensorineural deafness and mental retardation | ClinVar Annotator: match by term: Insulin-like growth factor I deficiency PMID:14684690|PMID:15769976|PMID:18317720|PMID:19240240|PMID:21915365|PMID:22832530|PMID:24033266|PMID:24389050|PMID:24664114|PMID:25741868|PMID:28492532|PMID:30214071|PMID:8857020 12378133 IGF1 insulin like growth factor 1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11375343 12378133 IGF1 insulin like growth factor 1 gene DOID:9007096 Stroke ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:15567334|REF_RGD_ID:1598413 12378133 IGF1 insulin like growth factor 1 gene DOID:9007096 Stroke severity ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16882751|REF_RGD_ID:1598423 12378133 IGF1 insulin like growth factor 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:16698918|REF_RGD_ID:1598426 12378133 IGF1 insulin like growth factor 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12378133 IGF1 insulin like growth factor 1 gene DOID:9007102 Myocardial Ischemia severity ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16793032|REF_RGD_ID:1598425 12378133 IGF1 insulin like growth factor 1 gene DOID:9007181 Osteoporotic Fractures ISO RGD:70506 D RGD:9068941 20200609 RGD DNA:repeat:promoter PMID:16939403|REF_RGD_ID:10045848 12378133 IGF1 insulin like growth factor 1 gene DOID:9007181 Osteoporotic Fractures susceptibility ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:10752709|REF_RGD_ID:10045863 12378133 IGF1 insulin like growth factor 1 gene DOID:9007181 Osteoporotic Fractures treatment ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:11834155|REF_RGD_ID:10003137 12378133 IGF1 insulin like growth factor 1 gene DOID:9007284 Precocious Puberty ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21402727 12378133 IGF1 insulin like growth factor 1 gene DOID:9007346 Cachexia ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30782979 12378133 IGF1 insulin like growth factor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23639586|PMID:25226513 12378133 IGF1 insulin like growth factor 1 gene DOID:9007480 Hyperoxia severity ISO RGD:70506 D RGD:9068941 20200609 RGD human protein in a rat model PMID:17697625|REF_RGD_ID:12904925 12378133 IGF1 insulin like growth factor 1 gene DOID:9007661 Dwarfism ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (rat) PMID:20102388|REF_RGD_ID:12904931 12378133 IGF1 insulin like growth factor 1 gene DOID:9007661 Dwarfism ISO RGD:70506 D RGD:9068941 20200609 RGD DNA:nonsense mutation,haploinsufficiency :cds: PMID:20668042|REF_RGD_ID:8548823 12378133 IGF1 insulin like growth factor 1 gene DOID:9007730 Burns ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA:altered expression:multiple PMID:10827012|REF_RGD_ID:12910869 12378133 IGF1 insulin like growth factor 1 gene DOID:9008212 Diabetic Foot ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:fibroblast of dermis,stratum basale of epidermis: PMID:10727985|REF_RGD_ID:8549356 12378133 IGF1 insulin like growth factor 1 gene DOID:9008681 Deafness ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:20661454|REF_RGD_ID:8549497 12378133 IGF1 insulin like growth factor 1 gene DOID:9008824 Sarcopenia ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:12919235|REF_RGD_ID:10045859 12378133 IGF1 insulin like growth factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17520698|PMID:18398872 12378133 IGF1 insulin like growth factor 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10370016 12378133 IGF1 insulin like growth factor 1 gene DOID:9351 diabetes mellitus ISO RGD:70506 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:corpus cavernosum: PMID:22133301|REF_RGD_ID:10046054 12378133 IGF1 insulin like growth factor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:18986336|REF_RGD_ID:2306690 12378133 IGF1 insulin like growth factor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16005252|REF_RGD_ID:2313767 12378133 IGF1 insulin like growth factor 1 gene DOID:9521 Laron syndrome ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:21054577|REF_RGD_ID:8549489 12378133 IGF1 insulin like growth factor 1 gene DOID:9743 diabetic neuropathy ISO RGD:2868 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19264110|REF_RGD_ID:2306687 12378133 IGF1 insulin like growth factor 1 gene DOID:9743 diabetic neuropathy ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17194636|REF_RGD_ID:2313764 12378133 IGF1 insulin like growth factor 1 gene DOID:9743 diabetic neuropathy treatment ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:18545223|REF_RGD_ID:8549454 12378133 IGF1 insulin like growth factor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24632065 12378133 IGF1 insulin like growth factor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:15356074|PMID:19156625|REF_RGD_ID:2306688|REF_RGD_ID:2313769 12378133 IGF1 insulin like growth factor 1 gene DOID:9744 type 1 diabetes mellitus severity ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16887362|REF_RGD_ID:2313765 12378133 IGF1 insulin like growth factor 1 gene DOID:987 alopecia ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased secretion:dermal papilla: PMID:24499417|REF_RGD_ID:8549500 12378133 IGF1 insulin like growth factor 1 gene DOID:987 alopecia ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:10827403|REF_RGD_ID:8549462 12378154 ZCCHC24 zinc finger CCHC-type containing 24 gene DOID:630 genetic disease ISO RGD:1314625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378162 PRR15 proline rich 15 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12378162 PRR15 proline rich 15 gene DOID:630 genetic disease ISO RGD:1603877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378171 FPR2 formyl peptide receptor 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1316624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 12378171 FPR2 formyl peptide receptor 2 gene DOID:630 genetic disease ISO RGD:1316624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378171 FPR2 formyl peptide receptor 2 gene DOID:8778 Crohn's disease ISO RGD:1316624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21659618 12378177 ETV2 ETS variant transcription factor 2 gene DOID:0050852 limb ischemia ameliorates ISO RGD:1351650 D RGD:9068941 20230323 RGD PMID:28424975|PMID:28466428|REF_RGD_ID:156451664|REF_RGD_ID:192379484 12378177 ETV2 ETS variant transcription factor 2 gene DOID:0050852 limb ischemia ameliorates ISO RGD:1616004 D RGD:9068941 20230323 RGD PMID:32075417|REF_RGD_ID:192186227 12378177 ETV2 ETS variant transcription factor 2 gene DOID:0050852 limb ischemia exacerbates ISO RGD:1616004 D RGD:9068941 20230316 RGD PMID:26586661|PMID:28424975|REF_RGD_ID:11076207|REF_RGD_ID:156451664 12378177 ETV2 ETS variant transcription factor 2 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1351650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12378177 ETV2 ETS variant transcription factor 2 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1351650 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12378177 ETV2 ETS variant transcription factor 2 gene DOID:1148 polydactyly ISO RGD:1351650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:33359164 12378177 ETV2 ETS variant transcription factor 2 gene DOID:543 dystonia ISO RGD:1351650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12378177 ETV2 ETS variant transcription factor 2 gene DOID:630 genetic disease ISO RGD:1351650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378177 ETV2 ETS variant transcription factor 2 gene DOID:9009023 Aortic Remodeling ameliorates ISO RGD:1616004 D RGD:9068941 20230316 RGD PMID:29191922|REF_RGD_ID:156451665 12378201 GPR84 G protein-coupled receptor 84 gene DOID:630 genetic disease ISO RGD:1323208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378209 ZNF501 zinc finger protein 501 gene DOID:630 genetic disease ISO RGD:1343425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378292 KCNC1 potassium voltage-gated channel subfamily C member 1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:735437 D RGD:7240710 20180130 OMIM 12378292 KCNC1 potassium voltage-gated channel subfamily C member 1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:735437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:17576681|PMID:25363768|PMID:25401298|PMID:25741868|PMID:26467025|PMID:27629860|PMID:28145425|PMID:28380698|PMID:28488083|PMID:28492532|PMID:28714951|PMID:31353855|PMID:31353862|PMID:34232791|PMID:9536098 12378292 KCNC1 potassium voltage-gated channel subfamily C member 1 gene DOID:1059 intellectual disability ISO RGD:735437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12378292 KCNC1 potassium voltage-gated channel subfamily C member 1 gene DOID:10652 Alzheimer's disease ISO RGD:10833 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:neocortex (mouse) PMID:21912965|REF_RGD_ID:9686062 12378292 KCNC1 potassium voltage-gated channel subfamily C member 1 gene DOID:1826 epilepsy ISO RGD:735437 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure PMID:26467025|PMID:28492532 12378292 KCNC1 potassium voltage-gated channel subfamily C member 1 gene DOID:1826 epilepsy ISO RGD:735437 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure 12378292 KCNC1 potassium voltage-gated channel subfamily C member 1 gene DOID:630 genetic disease ISO RGD:735437 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25401298|PMID:25741868|PMID:26467025|PMID:27629860|PMID:28380698|PMID:28488083|PMID:28492532 12378292 KCNC1 potassium voltage-gated channel subfamily C member 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:735437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 12378292 KCNC1 potassium voltage-gated channel subfamily C member 1 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:735437 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:28492532 12378299 MAL mal, T cell differentiation protein gene DOID:10581 metachromatic leukodystrophy ISO RGD:735676 D RGD:9068941 20200609 RGD PMID:15193296|REF_RGD_ID:1358761 12378299 MAL mal, T cell differentiation protein gene DOID:1749 squamous cell carcinoma ISO RGD:735676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19445022 12378299 MAL mal, T cell differentiation protein gene DOID:630 genetic disease ISO RGD:735676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378299 MAL mal, T cell differentiation protein gene DOID:9006169 Head and Neck Neoplasms ISO RGD:735676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19445022 12378299 MAL mal, T cell differentiation protein gene DOID:9008939 Breast Neoplasms ISO RGD:735676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208741 12378307 GLO1 glyoxalase I gene DOID:12849 autistic disorder ISO RGD:1350387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 1 PMID:15386471|PMID:17722011|PMID:18721844 12378307 GLO1 glyoxalase I gene DOID:12849 autistic disorder resistance ISO RGD:1350387 D RGD:9068941 20200609 RGD DNA:SNP: :419C>A (human) PMID:17346350|REF_RGD_ID:7242568 12378307 GLO1 glyoxalase I gene DOID:1596 depressive disorder ISO RGD:1350387 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22113448 12378307 GLO1 glyoxalase I gene DOID:178 vascular disease ISO RGD:1350387 D RGD:9068941 20200609 RGD DNA:SNP: :419C>A (human) PMID:18079478|REF_RGD_ID:7242571 12378307 GLO1 glyoxalase I gene DOID:1909 melanoma ISO RGD:1350387 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20093988 12378307 GLO1 glyoxalase I gene DOID:2030 anxiety disorder ISO RGD:1350387 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22113448 12378307 GLO1 glyoxalase I gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1350387 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12378307 GLO1 glyoxalase I gene DOID:630 genetic disease ISO RGD:1350387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378307 GLO1 glyoxalase I gene DOID:783 end stage renal disease severity ISO RGD:1350387 D RGD:9068941 20200609 RGD DNA:SNP: :419C>A (human) PMID:20185929|REF_RGD_ID:7242570 12378307 GLO1 glyoxalase I gene DOID:8947 diabetic retinopathy ISO RGD:1350387 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-7C>T (human) PMID:21738003|REF_RGD_ID:7242569 12378307 GLO1 glyoxalase I gene DOID:9002165 Diabetic Nephropathies ISO RGD:1350387 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-7C>T (human) PMID:21738003|REF_RGD_ID:7242569 12378307 GLO1 glyoxalase I gene DOID:9002661 Diabetes Complications no_association ISO RGD:1350387 D RGD:9068941 20200609 RGD DNA:SNP: :419C>A (human) PMID:21738003|REF_RGD_ID:7242569 12378307 GLO1 glyoxalase I gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1350387 D RGD:9068941 20200609 RGD PMID:19211689|REF_RGD_ID:7242566 12378307 GLO1 glyoxalase I gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2702 D RGD:9068941 20200609 RGD PMID:19211689|REF_RGD_ID:7242566 12378307 GLO1 glyoxalase I gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350387 D RGD:9068941 20200609 RGD DNA:point mutation: :c.332A>C (human) PMID:18413187|REF_RGD_ID:7242567 12378318 DAG1 dystroglycan 1 gene DOID:0050453 lissencephaly ISO RGD:1552006 D RGD:9068941 20220825 MouseDO OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 12378318 DAG1 dystroglycan 1 gene DOID:0050559 Fukuyama congenital muscular dystrophy ISO RGD:1344302 D RGD:9068941 20200609 RGD protein:decreased expression:brain, heart, skeletal muscle PMID:11445638|REF_RGD_ID:11537476 12378318 DAG1 dystroglycan 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1320792 D RGD:9068941 20200609 RGD PMID:24824861|REF_RGD_ID:11537406 12378318 DAG1 dystroglycan 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1344302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12378318 DAG1 dystroglycan 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1552006 D RGD:9068941 20200609 RGD PMID:18923033|REF_RGD_ID:11537405 12378318 DAG1 dystroglycan 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12378318 DAG1 dystroglycan 1 gene DOID:0060852 Pierson syndrome ISO RGD:1344302 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 12378318 DAG1 dystroglycan 1 gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ISO RGD:1344302 D RGD:9068941 20200609 RGD protein:increased degradation:skeletal muscle PMID:15833425|REF_RGD_ID:11073211 12378318 DAG1 dystroglycan 1 gene DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P ISO RGD:1344302 D RGD:7240710 20180130 OMIM 12378318 DAG1 dystroglycan 1 gene DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P ISO RGD:1344302 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P PMID:10875918|PMID:14678799|PMID:17576681|PMID:21388311|PMID:22237435|PMID:24033266|PMID:24052401|PMID:25503980|PMID:25671699|PMID:25741868|PMID:25934851|PMID:26467025|PMID:28492532|PMID:29036200|PMID:29134705|PMID:29337005|PMID:30450679|PMID:30919572|PMID:31066050|PMID:31097590|PMID:9536098 12378318 DAG1 dystroglycan 1 gene DOID:0111232 congenital muscular dystrophy-dystroglycanopathy type A9 ISO RGD:1344302 D RGD:7240710 20180130 OMIM 12378318 DAG1 dystroglycan 1 gene DOID:0111232 congenital muscular dystrophy-dystroglycanopathy type A9 ISO RGD:1344302 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 PMID:24033266|PMID:24052401|PMID:25741868|PMID:25934851|PMID:26467025|PMID:28492532|PMID:29134705 12378318 DAG1 dystroglycan 1 gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1344302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:25741868|PMID:28492532 12378318 DAG1 dystroglycan 1 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1344302 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase 12378318 DAG1 dystroglycan 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12378318 DAG1 dystroglycan 1 gene DOID:1059 intellectual disability ISO RGD:1344302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12378318 DAG1 dystroglycan 1 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:1344302 D RGD:9068941 20200609 RGD DNA:SNP: :p.N494H (human) PMID:17196572|REF_RGD_ID:11537474 12378318 DAG1 dystroglycan 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1344302 D RGD:9068941 20200609 RGD PMID:7630355|REF_RGD_ID:11552581 12378318 DAG1 dystroglycan 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1344302 D RGD:9068941 20200609 RGD protein:decreased expression:skeletal muscle PMID:11445638|REF_RGD_ID:11537476 12378318 DAG1 dystroglycan 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1344302 D RGD:9068941 20200609 RGD protein:increased degradation:skeletal muscle PMID:15833425|REF_RGD_ID:11073211 12378318 DAG1 dystroglycan 1 gene DOID:12236 primary biliary cholangitis ISO RGD:621890 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:12177244|REF_RGD_ID:2314895 12378318 DAG1 dystroglycan 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1552006 D RGD:9068941 20220825 MouseDO 12378318 DAG1 dystroglycan 1 gene DOID:3429 inclusion body myositis ISO RGD:732554 D RGD:9068941 20200609 RGD PMID:14972325|REF_RGD_ID:11537409 12378318 DAG1 dystroglycan 1 gene DOID:423 myopathy ISO RGD:1344302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868|PMID:28492532 12378318 DAG1 dystroglycan 1 gene DOID:5844 myocardial infarction treatment ISO RGD:621890 D RGD:9068941 20200609 RGD PMID:12034665|REF_RGD_ID:11541047 12378318 DAG1 dystroglycan 1 gene DOID:630 genetic disease ISO RGD:1344302 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12378318 DAG1 dystroglycan 1 gene DOID:767 muscular atrophy ISO RGD:621890 D RGD:9068941 20200609 RGD protein:decreased expression:gastrocnemius PMID:12107060|REF_RGD_ID:625642 12378318 DAG1 dystroglycan 1 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:621890 D RGD:9068941 20200609 RGD PMID:16254495|REF_RGD_ID:11541065 12378318 DAG1 dystroglycan 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1344302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12378318 DAG1 dystroglycan 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621890 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:12177244|REF_RGD_ID:2314895 12378318 DAG1 dystroglycan 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12378318 DAG1 dystroglycan 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:621890 D RGD:9068941 20200609 RGD PMID:25545558|REF_RGD_ID:11541062 12378318 DAG1 dystroglycan 1 gene DOID:9002955 Nerve Degeneration ISO RGD:621890 D RGD:9068941 20200609 RGD PMID:16228655|REF_RGD_ID:11537480 12378318 DAG1 dystroglycan 1 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:621890 D RGD:9068941 20200609 RGD PMID:21192954|REF_RGD_ID:11541061 12378318 DAG1 dystroglycan 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:621890 D RGD:9068941 20200609 RGD protein:decreased expression:skeletal muscle PMID:16323284|REF_RGD_ID:1581689 12378318 DAG1 dystroglycan 1 gene DOID:9537 Lassa fever ISO RGD:1344302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17287727 12378318 DAG1 dystroglycan 1 gene DOID:9884 muscular dystrophy ISO RGD:1318928 D RGD:9068941 20200609 RGD protein:decreased glycosylation:skeletal muscle PMID:11381262|REF_RGD_ID:1358757 12378333 CBY2 chibby family member 2 gene DOID:630 genetic disease ISO RGD:1606126 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378346 RBM26 RNA binding motif protein 26 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1317989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12378346 RBM26 RNA binding motif protein 26 gene DOID:10327 anthracosis ISO RGD:1317989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394417 12378346 RBM26 RNA binding motif protein 26 gene DOID:630 genetic disease ISO RGD:1317989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378389 TM9SF2 transmembrane 9 superfamily member 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1343017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 12378389 TM9SF2 transmembrane 9 superfamily member 2 gene DOID:14701 propionic acidemia ISO RGD:1343017 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 12378389 TM9SF2 transmembrane 9 superfamily member 2 gene DOID:4621 holoprosencephaly ISO RGD:1343017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 12378389 TM9SF2 transmembrane 9 superfamily member 2 gene DOID:630 genetic disease ISO RGD:1343017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378389 TM9SF2 transmembrane 9 superfamily member 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1343017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12378389 TM9SF2 transmembrane 9 superfamily member 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1343017 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow, mononuclear cells (human) PMID:12730115|REF_RGD_ID:2317244 12378410 PBK PDZ binding kinase gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1351038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12378410 PBK PDZ binding kinase gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1351038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12378410 PBK PDZ binding kinase gene DOID:11612 polycystic ovary syndrome ISO RGD:1351038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12378410 PBK PDZ binding kinase gene DOID:630 genetic disease ISO RGD:1351038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378410 PBK PDZ binding kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1351038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12378424 NOS1 nitric oxide synthase 1 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25511929 12378424 NOS1 nitric oxide synthase 1 gene DOID:0050700 cardiomyopathy ISO RGD:3184 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:cardiomyocyte PMID:17721248|REF_RGD_ID:1642134 12378424 NOS1 nitric oxide synthase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:619551 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12378424 NOS1 nitric oxide synthase 1 gene DOID:0080855 Parkinsonism ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:23967645|REF_RGD_ID:7257596 12378424 NOS1 nitric oxide synthase 1 gene DOID:0080998 acute necrotizing pancreatitis treatment ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:23300603|REF_RGD_ID:7257665 12378424 NOS1 nitric oxide synthase 1 gene DOID:10652 Alzheimer's disease ISO RGD:619551 D RGD:9068941 20200609 RGD PMID:10964481|PMID:12384247|REF_RGD_ID:13824976|REF_RGD_ID:13824978 12378424 NOS1 nitric oxide synthase 1 gene DOID:10652 Alzheimer's disease ISO RGD:619551 D RGD:9068941 20200609 RGD DNA:repeat:exon PMID:17418914|REF_RGD_ID:13824975 12378424 NOS1 nitric oxide synthase 1 gene DOID:10652 Alzheimer's disease no_association ISO RGD:619551 D RGD:9068941 20200609 RGD DNA:SNP:exon:-84G>A (human) PMID:17418914|REF_RGD_ID:13824975 12378424 NOS1 nitric oxide synthase 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:619551 D RGD:9068941 20200609 RGD DNA:repeat:promoter PMID:21098972|REF_RGD_ID:13824974 12378424 NOS1 nitric oxide synthase 1 gene DOID:10762 portal hypertension treatment ISO RGD:3184 D RGD:9068941 20200609 RGD associated with liver cirrhosis PMID:10727442|REF_RGD_ID:13824993 12378424 NOS1 nitric oxide synthase 1 gene DOID:10763 hypertension ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:15775788|PMID:15913838|PMID:16093913|PMID:20494920|REF_RGD_ID:1581141|REF_RGD_ID:1581142|REF_RGD_ID:1581143|REF_RGD_ID:5132600 12378424 NOS1 nitric oxide synthase 1 gene DOID:10763 hypertension ISO RGD:3184 D RGD:9068941 20200609 RGD mRNA:decreased expression:bladder, penis PMID:17574276|REF_RGD_ID:1642127 12378424 NOS1 nitric oxide synthase 1 gene DOID:10763 hypertension treatment ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:23201071|REF_RGD_ID:7257668 12378424 NOS1 nitric oxide synthase 1 gene DOID:10941 intracranial aneurysm ISO RGD:10991 D RGD:9068941 20200609 RGD PMID:21321533|REF_RGD_ID:5131897 12378424 NOS1 nitric oxide synthase 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:619551 D RGD:9068941 20200609 RGD PMID:9542584|REF_RGD_ID:13825135 12378424 NOS1 nitric oxide synthase 1 gene DOID:1184 nephrotic syndrome ISO RGD:3184 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:12853118|REF_RGD_ID:1642133 12378424 NOS1 nitric oxide synthase 1 gene DOID:12577 urethral obstruction ISO RGD:3184 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:23766828|REF_RGD_ID:7257604 12378424 NOS1 nitric oxide synthase 1 gene DOID:12638 hypertrophic pyloric stenosis ISO RGD:10991 D RGD:9068941 20220825 MouseDO OMIM:179010 | OMIM:300711 | OMIM:610260 | OMIM:612017 | OMIM:612525 12378424 NOS1 nitric oxide synthase 1 gene DOID:12935 alcoholic cardiomyopathy ISO RGD:3184 D RGD:9068941 20200609 RGD protein:decreased expression:skeletal muscle, membrane PMID:17607508|REF_RGD_ID:1642138 12378424 NOS1 nitric oxide synthase 1 gene DOID:13025 retinopathy of prematurity ISO RGD:3184 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:23204802|REF_RGD_ID:7257667 12378424 NOS1 nitric oxide synthase 1 gene DOID:13413 hepatic encephalopathy ISO RGD:3184 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19763802|REF_RGD_ID:5132590 12378424 NOS1 nitric oxide synthase 1 gene DOID:13413 hepatic encephalopathy ISO RGD:3184 D RGD:9068941 20200609 RGD protein:increased expression:neocortex PMID:17083474|REF_RGD_ID:1642151 12378424 NOS1 nitric oxide synthase 1 gene DOID:13413 hepatic encephalopathy ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10206825|PMID:10564534 12378424 NOS1 nitric oxide synthase 1 gene DOID:14330 Parkinson's disease ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26383258 12378424 NOS1 nitric oxide synthase 1 gene DOID:14330 Parkinson's disease ISO RGD:619551 D RGD:9068941 20200609 RGD PMID:11809160|REF_RGD_ID:1358519 12378424 NOS1 nitric oxide synthase 1 gene DOID:14330 Parkinson's disease ISO RGD:619551 D RGD:9068941 20200609 RGD RNA, protein:increased expression:neutrophil PMID:11020342|REF_RGD_ID:5132632 12378424 NOS1 nitric oxide synthase 1 gene DOID:1470 major depressive disorder ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:25001963|REF_RGD_ID:13825137 12378424 NOS1 nitric oxide synthase 1 gene DOID:1485 cystic fibrosis ISO RGD:619551 D RGD:9068941 20200609 RGD PMID:11890749|REF_RGD_ID:5132868 12378424 NOS1 nitric oxide synthase 1 gene DOID:1485 cystic fibrosis ISO RGD:619551 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:12064512|REF_RGD_ID:5132865 12378424 NOS1 nitric oxide synthase 1 gene DOID:1485 cystic fibrosis disease_progression ISO RGD:619551 D RGD:9068941 20200609 RGD DNA:repeats:5'utr PMID:14760158|REF_RGD_ID:5132627 12378424 NOS1 nitric oxide synthase 1 gene DOID:150 disease of mental health ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17426488 12378424 NOS1 nitric oxide synthase 1 gene DOID:1591 renovascular hypertension ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:16788145|REF_RGD_ID:1642130 12378424 NOS1 nitric oxide synthase 1 gene DOID:1596 depressive disorder ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17854383 12378424 NOS1 nitric oxide synthase 1 gene DOID:1596 depressive disorder treatment ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:20571741|REF_RGD_ID:13824995 12378424 NOS1 nitric oxide synthase 1 gene DOID:1824 status epilepticus ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20149694 12378424 NOS1 nitric oxide synthase 1 gene DOID:1875 impotence ISO RGD:3184 D RGD:9068941 20200609 RGD associated with Urethral Obstruction;protein:decreased expression:penis erectile tissue PMID:23535456|REF_RGD_ID:7257656 12378424 NOS1 nitric oxide synthase 1 gene DOID:1875 impotence treatment ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:23522997|REF_RGD_ID:7257657 12378424 NOS1 nitric oxide synthase 1 gene DOID:1875 impotence treatment ISO RGD:3184 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23698784|REF_RGD_ID:7244246 12378424 NOS1 nitric oxide synthase 1 gene DOID:2074 intestinal perforation ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18030227 12378424 NOS1 nitric oxide synthase 1 gene DOID:224 transient cerebral ischemia ISO RGD:3184 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:dentate gyrus PMID:23806217|REF_RGD_ID:7257600 12378424 NOS1 nitric oxide synthase 1 gene DOID:231 motor neuron disease ISO RGD:619551 D RGD:9068941 20200609 RGD protein:decreased expression;motor neuron PMID:12200626|REF_RGD_ID:5132629 12378424 NOS1 nitric oxide synthase 1 gene DOID:2316 brain ischemia ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:17451676|REF_RGD_ID:1642142 12378424 NOS1 nitric oxide synthase 1 gene DOID:2316 brain ischemia ISO RGD:3184 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:21718970|REF_RGD_ID:6480433 12378424 NOS1 nitric oxide synthase 1 gene DOID:2349 arteriosclerosis ISO RGD:10991 D RGD:9068941 20200609 RGD PMID:16627802|REF_RGD_ID:1642131 12378424 NOS1 nitric oxide synthase 1 gene DOID:2560 morphine dependence ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17989510 12378424 NOS1 nitric oxide synthase 1 gene DOID:2786 cerebellar disease ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25511929 12378424 NOS1 nitric oxide synthase 1 gene DOID:2841 asthma ISO RGD:619551 D RGD:9068941 20200609 RGD DNA:repeats: : PMID:10673365|REF_RGD_ID:5132869 12378424 NOS1 nitric oxide synthase 1 gene DOID:2841 asthma ISO RGD:619551 D RGD:9068941 20200609 RGD DNA:repeats:exon PMID:10833424|REF_RGD_ID:5132860 12378424 NOS1 nitric oxide synthase 1 gene DOID:2841 asthma susceptibility ISO RGD:619551 D RGD:9068941 20200609 RGD DNA:repeats:intron PMID:14767694|PMID:20609134|REF_RGD_ID:5132615|REF_RGD_ID:5132863 12378424 NOS1 nitric oxide synthase 1 gene DOID:3021 acute kidney failure ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:14531809|REF_RGD_ID:13825139 12378424 NOS1 nitric oxide synthase 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:619551 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:19797159|REF_RGD_ID:5132607 12378424 NOS1 nitric oxide synthase 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:619551 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:12816735|REF_RGD_ID:5132628 12378424 NOS1 nitric oxide synthase 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:3184 D RGD:9068941 20200609 RGD protein:increased expression:forebrain, postsynaptic density PMID:11226670|REF_RGD_ID:5147998 12378424 NOS1 nitric oxide synthase 1 gene DOID:5419 schizophrenia ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:20802999|REF_RGD_ID:5131923 12378424 NOS1 nitric oxide synthase 1 gene DOID:5419 schizophrenia ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18923069 12378424 NOS1 nitric oxide synthase 1 gene DOID:6000 congestive heart failure ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:15466641|PMID:23832698|REF_RGD_ID:1581144|REF_RGD_ID:7257598 12378424 NOS1 nitric oxide synthase 1 gene DOID:630 genetic disease ISO RGD:619551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378424 NOS1 nitric oxide synthase 1 gene DOID:670 amphetamine abuse ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15542708 12378424 NOS1 nitric oxide synthase 1 gene DOID:783 end stage renal disease ISO RGD:3184 D RGD:9068941 20200609 RGD protein:decreased expression:kidney cortex PMID:17200156|REF_RGD_ID:1642147 12378424 NOS1 nitric oxide synthase 1 gene DOID:783 end stage renal disease treatment ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:23185775|REF_RGD_ID:7257669 12378424 NOS1 nitric oxide synthase 1 gene DOID:863 nervous system disease ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9495865 12378424 NOS1 nitric oxide synthase 1 gene DOID:8947 diabetic retinopathy ISO RGD:3184 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:retina PMID:17545029|REF_RGD_ID:1642141 12378424 NOS1 nitric oxide synthase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:20633123|REF_RGD_ID:5131936 12378424 NOS1 nitric oxide synthase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3184 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:19291395|REF_RGD_ID:5132595 12378424 NOS1 nitric oxide synthase 1 gene DOID:9000564 Prehypertension ISO RGD:3184 D RGD:9068941 20200609 RGD protein:decreased expression:stellate interneuron PMID:23172925|REF_RGD_ID:7257670 12378424 NOS1 nitric oxide synthase 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10991 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19286931|REF_RGD_ID:5132864 12378424 NOS1 nitric oxide synthase 1 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20726721 12378424 NOS1 nitric oxide synthase 1 gene DOID:9000972 Fever ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9495865 12378424 NOS1 nitric oxide synthase 1 gene DOID:9001488 Human Influenza ISO RGD:10991 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:9552178|REF_RGD_ID:5132870 12378424 NOS1 nitric oxide synthase 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:3184 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:10966937|REF_RGD_ID:13824991 12378424 NOS1 nitric oxide synthase 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:3184 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:23548923|REF_RGD_ID:7257655 12378424 NOS1 nitric oxide synthase 1 gene DOID:9002211 Hyperalgesia ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:23909597|REF_RGD_ID:7257597 12378424 NOS1 nitric oxide synthase 1 gene DOID:9002211 Hyperalgesia ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19300402 12378424 NOS1 nitric oxide synthase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3184 D RGD:9068941 20200609 RGD associated with hyperinsulinemia; protein:decreased expression:placenta PMID:19709742|REF_RGD_ID:5132592 12378424 NOS1 nitric oxide synthase 1 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25511929 12378424 NOS1 nitric oxide synthase 1 gene DOID:9002669 Hypoxia ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10956627 12378424 NOS1 nitric oxide synthase 1 gene DOID:9002955 Nerve Degeneration ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10791088|PMID:9436549 12378424 NOS1 nitric oxide synthase 1 gene DOID:9003420 Carbon Monoxide Poisoning ISO RGD:10991 D RGD:9068941 20200609 RGD PMID:14761684|REF_RGD_ID:13825130 12378424 NOS1 nitric oxide synthase 1 gene DOID:9003420 Carbon Monoxide Poisoning ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:14761684|REF_RGD_ID:13825130 12378424 NOS1 nitric oxide synthase 1 gene DOID:9003919 Urination Disorders ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9142130 12378424 NOS1 nitric oxide synthase 1 gene DOID:9003936 Cardiomegaly ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:17673519|REF_RGD_ID:1642136 12378424 NOS1 nitric oxide synthase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:17451676|REF_RGD_ID:1642142 12378424 NOS1 nitric oxide synthase 1 gene DOID:9004370 Infantile Hypertrophic Pyloric Stenosis 1 ISO RGD:619551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyloric stenosis, infantile hypertrophic, 1 PMID:14757827|PMID:19851341 12378424 NOS1 nitric oxide synthase 1 gene DOID:9004484 Sepsis ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:17191663|REF_RGD_ID:1642148 12378424 NOS1 nitric oxide synthase 1 gene DOID:9004649 Heat Stroke ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:16950411|REF_RGD_ID:1642129 12378424 NOS1 nitric oxide synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3184 D RGD:9068941 20200609 RGD protein:decreased dimerization:stomach PMID:17347455|REF_RGD_ID:1642144 12378424 NOS1 nitric oxide synthase 1 gene DOID:9005968 Neuralgia treatment ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:23342771|REF_RGD_ID:7257658 12378424 NOS1 nitric oxide synthase 1 gene DOID:9006062 Nervous System Trauma ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10531423 12378424 NOS1 nitric oxide synthase 1 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:17913382|REF_RGD_ID:5130174 12378424 NOS1 nitric oxide synthase 1 gene DOID:9007096 Stroke ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:19408167|REF_RGD_ID:5132594 12378424 NOS1 nitric oxide synthase 1 gene DOID:9007174 Ventricular Remodeling ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16344403 12378424 NOS1 nitric oxide synthase 1 gene DOID:9007877 Fetal Hypoxia ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:17310378|REF_RGD_ID:1642145 12378424 NOS1 nitric oxide synthase 1 gene DOID:9007993 Dehydration ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:16052497|REF_RGD_ID:13825136 12378424 NOS1 nitric oxide synthase 1 gene DOID:9007996 End Stage Liver Disease ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15025246 12378424 NOS1 nitric oxide synthase 1 gene DOID:9008023 Memory Disorders ISO RGD:3184 D RGD:9068941 20200609 RGD associated with Status Epilepticus PMID:17549628|REF_RGD_ID:1642140 12378424 NOS1 nitric oxide synthase 1 gene DOID:9164 achalasia ISO RGD:10991 D RGD:9068941 20220825 MouseDO OMIM:200400 12378424 NOS1 nitric oxide synthase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:16323284|REF_RGD_ID:1581689 12378424 NOS1 nitric oxide synthase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21666113 12378424 NOS1 nitric oxide synthase 1 gene DOID:9970 obesity ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:16316351|REF_RGD_ID:1642132 12378476 RPP30 ribonuclease P/MRP subunit p30 gene DOID:630 genetic disease ISO RGD:1321878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378494 FRZB frizzled related protein gene DOID:3907 lung squamous cell carcinoma ISO RGD:1322704 D RGD:9068941 20200702 RGD protein:decreased expression:lung (human) PMID:27623992|REF_RGD_ID:32716395 12378494 FRZB frizzled related protein gene DOID:3908 lung non-small cell carcinoma ISO RGD:1322704 D RGD:9068941 20200702 RGD DNA:hypermethylation:exon 1 PMID:27623992|REF_RGD_ID:32716395 12378494 FRZB frizzled related protein gene DOID:3910 lung adenocarcinoma severity ISO RGD:1322704 D RGD:9068941 20200702 RGD mRNA:decreased expression:lung (human) PMID:27623992|REF_RGD_ID:32716395 12378494 FRZB frizzled related protein gene DOID:630 genetic disease ISO RGD:1322704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378494 FRZB frizzled related protein gene DOID:8398 osteoarthritis ISO RGD:1322704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteoarthritis PMID:15210948|PMID:25741868 12378494 FRZB frizzled related protein gene DOID:8398 osteoarthritis susceptibility ISO RGD:1322704 D RGD:7240710 20190502 OMIM 12378494 FRZB frizzled related protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:1322704 D RGD:9068941 20200702 RGD protein, decreased expression:skeletal muscle, serum (human) PMID:28240822|REF_RGD_ID:32716394 12378503 NEK7 NIMA related kinase 7 gene DOID:1540 parathyroid carcinoma ISO RGD:1322471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12378503 NEK7 NIMA related kinase 7 gene DOID:630 genetic disease ISO RGD:1322471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378503 NEK7 NIMA related kinase 7 gene DOID:9004657 Weight Gain ISO RGD:1322471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12378503 NEK7 NIMA related kinase 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12378539 MAML1 mastermind like transcriptional coactivator 1 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1318517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 12378539 MAML1 mastermind like transcriptional coactivator 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1318517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12378539 MAML1 mastermind like transcriptional coactivator 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1318517 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12378539 MAML1 mastermind like transcriptional coactivator 1 gene DOID:10283 prostate cancer ISO RGD:1318517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12378539 MAML1 mastermind like transcriptional coactivator 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1318518 D RGD:9068941 20200609 RGD protein:increased expression:spinal chord PMID:26067594|REF_RGD_ID:13524575 12378539 MAML1 mastermind like transcriptional coactivator 1 gene DOID:630 genetic disease ISO RGD:1318517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378547 SENP6 SUMO specific peptidase 6 gene DOID:630 genetic disease ISO RGD:1312076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378547 SENP6 SUMO specific peptidase 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 12378583 NT5C1A 5'-nucleotidase, cytosolic IA gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12378583 NT5C1A 5'-nucleotidase, cytosolic IA gene DOID:630 genetic disease ISO RGD:1322084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378593 CD300LF CD300 molecule like family member f gene DOID:630 genetic disease ISO RGD:1603897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378612 OSBP oxysterol binding protein gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1317627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12378612 OSBP oxysterol binding protein gene DOID:1059 intellectual disability ISO RGD:1317627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12378612 OSBP oxysterol binding protein gene DOID:12206 dengue hemorrhagic fever ISO RGD:1317627 D RGD:9068941 20210129 RGD mRNA:increased expression:peripheral blood mononuclear cell PMID:28241052|REF_RGD_ID:41404654 12378612 OSBP oxysterol binding protein gene DOID:630 genetic disease ISO RGD:1317627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378612 OSBP oxysterol binding protein gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1308069 D RGD:9068941 20210129 RGD protein:increased tyrosine phosphorylation:aorta PMID:18230613|REF_RGD_ID:2291921 12378612 OSBP oxysterol binding protein gene DOID:9005775 Perinatal Asphyxia ISO RGD:1308069 D RGD:9068941 20230302 RGD PMID:23625371|REF_RGD_ID:156431056 12378612 OSBP oxysterol binding protein gene DOID:9007661 Dwarfism ISO RGD:1317627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12378612 OSBP oxysterol binding protein gene DOID:9256 colorectal cancer ISO RGD:1317627 D RGD:9068941 20210129 RGD PMID:21999571|REF_RGD_ID:41404653 12378639 CYP4F22 cytochrome P450 family 4 subfamily F member 22 gene DOID:0060041 autism spectrum disorder ISO RGD:1606166 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12378639 CYP4F22 cytochrome P450 family 4 subfamily F member 22 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1606166 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:16436457|PMID:25741868|PMID:25998749|PMID:26056268|PMID:26646773|PMID:27025581|PMID:28492532|PMID:30011118|PMID:31625567|PMID:31876103|PMID:32069299|PMID:33067036|PMID:33786896 12378639 CYP4F22 cytochrome P450 family 4 subfamily F member 22 gene DOID:0060714 autosomal recessive congenital ichthyosis 5 ISO RGD:1606166 D RGD:7240710 20180130 OMIM 12378639 CYP4F22 cytochrome P450 family 4 subfamily F member 22 gene DOID:0060714 autosomal recessive congenital ichthyosis 5 ISO RGD:1606166 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 5 PMID:16436457|PMID:18034255|PMID:22992804|PMID:23621129|PMID:23871423|PMID:24397709|PMID:25741868|PMID:25998749|PMID:26056268|PMID:26646773|PMID:26762237|PMID:27025581|PMID:27449533|PMID:27735052|PMID:28492532|PMID:30011118|PMID:31625567|PMID:31876103|PMID:32069299|PMID:33067036|PMID:33223529|PMID:33786896 12378639 CYP4F22 cytochrome P450 family 4 subfamily F member 22 gene DOID:3310 atopic dermatitis ISO RGD:1606166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atopic eczema PMID:25741868 12378639 CYP4F22 cytochrome P450 family 4 subfamily F member 22 gene DOID:630 genetic disease ISO RGD:1606166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378656 FOXN4 forkhead box N4 gene DOID:630 genetic disease ISO RGD:1314977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378668 BAG3 BAG cochaperone 3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1317192 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:21898660|PMID:23861362|PMID:25741868|PMID:28492532|PMID:29382405|PMID:30615648|PMID:33658040|PMID:34426522 12378668 BAG3 BAG cochaperone 3 gene DOID:0050700 cardiomyopathy ISO RGD:1317192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:27042682|PMID:28166811|PMID:28492532 12378668 BAG3 BAG cochaperone 3 gene DOID:0050700 cardiomyopathy ISO RGD:1317192 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:21459883|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27042682|PMID:28492532 12378668 BAG3 BAG cochaperone 3 gene DOID:0050700 cardiomyopathy ISO RGD:1317192 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:21459883|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27042682|PMID:28492532 12378668 BAG3 BAG cochaperone 3 gene DOID:0060224 atrial fibrillation ISO RGD:1317192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:24033266|PMID:25741868|PMID:28492532 12378668 BAG3 BAG cochaperone 3 gene DOID:0060480 left ventricular noncompaction ISO RGD:1317192 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:21353195|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28254189|PMID:28492532|PMID:30847666 12378668 BAG3 BAG cochaperone 3 gene DOID:0080097 myofibrillar myopathy 6 ISO RGD:1317192 D RGD:7240710 20180130 OMIM 12378668 BAG3 BAG cochaperone 3 gene DOID:0080097 myofibrillar myopathy 6 ISO RGD:1317192 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 6 | ClinVar Annotator: match by term: Myofibrillar myopathy, BAG3-related PMID:16199547|PMID:17576681|PMID:19085932|PMID:20301672|PMID:20605452|PMID:21353195|PMID:21361913|PMID:21459883|PMID:2159883|PMID:21676617|PMID:21898660|PMID:22337857|PMID:22734908|PMID:23582692|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25208129|PMID:25273835|PMID:25326635|PMID:25448463|PMID:25617006|PMID:25640679|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26272908|PMID:26383716|PMID:26392352|PMID:26467025|PMID:26512958|PMID:26545904|PMID:26899768|PMID:27042682|PMID:27164712|PMID:27321750|PMID:27443559|PMID:27896284|PMID:28224639|PMID:28254189|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28611029|PMID:28669108|PMID:28704380|PMID:28737513|PMID:28750076|PMID:28754666|PMID:28798025|PMID:29016939|PMID:29247119|PMID:29338979|PMID:29382405|PMID:29892087|PMID:29961767|PMID:30012837|PMID:30061062|PMID:30140897|PMID:30145633|PMID:30373780|PMID:30377383|PMID:30384889|PMID:30442290|PMID:30559338|PMID:30615648|PMID:30847666|PMID:31333075|PMID:31395899|PMID:31514951|PMID:31568572|PMID:31723063|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32160020|PMID:32458740|PMID:32472079|PMID:32746448|PMID:32859500|PMID:33146414|PMID:33658040|PMID:33874732|PMID:33917638|PMID:34036930|PMID:34117258|PMID:34213952|PMID:34426522|PMID:35029900|PMID:35732239|PMID:9536098 12378668 BAG3 BAG cochaperone 3 gene DOID:0080307 myofibrillar myopathy ISO RGD:1317192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy PMID:21361913|PMID:21898660|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12378668 BAG3 BAG cochaperone 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1317192 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:31395899 12378668 BAG3 BAG cochaperone 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317192 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532|PMID:31395899 12378668 BAG3 BAG cochaperone 3 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1317192 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:21353195|PMID:24033266|PMID:25741868|PMID:28436997|PMID:28492532|PMID:28669108|PMID:32160020 12378668 BAG3 BAG cochaperone 3 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1317192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:21353195|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28669108 12378668 BAG3 BAG cochaperone 3 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1317192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL DILATED, 1 | ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:21459883|PMID:24033266|PMID:24558114|PMID:25008357|PMID:25448463|PMID:25741868|PMID:28436997|PMID:28492532|PMID:32160020|PMID:34213952 12378668 BAG3 BAG cochaperone 3 gene DOID:0110448 dilated cardiomyopathy 1HH ISO RGD:1317192 D RGD:7240710 20180130 OMIM 12378668 BAG3 BAG cochaperone 3 gene DOID:0110448 dilated cardiomyopathy 1HH ISO RGD:1317192 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1HH PMID:17576681|PMID:19085932|PMID:20301672|PMID:20605452|PMID:21353195|PMID:21361913|PMID:21459883|PMID:2159883|PMID:21676617|PMID:21898660|PMID:22337857|PMID:22734908|PMID:23582692|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25208129|PMID:25273835|PMID:25326635|PMID:25448463|PMID:25617006|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26272908|PMID:26392352|PMID:26467025|PMID:26512958|PMID:26545904|PMID:26899768|PMID:27042682|PMID:27164712|PMID:27321750|PMID:27443559|PMID:27896284|PMID:28224639|PMID:28254189|PMID:28359509|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28750076|PMID:28754666|PMID:28798025|PMID:29016939|PMID:29338979|PMID:29382405|PMID:30012837|PMID:30061062|PMID:30140897|PMID:30145633|PMID:30373780|PMID:30377383|PMID:30384889|PMID:30442290|PMID:30559338|PMID:30615648|PMID:30847666|PMID:31333075|PMID:31395899|PMID:31514951|PMID:31568572|PMID:31723063|PMID:31931689|PMID:31983221|PMID:32160020|PMID:32458740|PMID:32746448|PMID:33146414|PMID:33658040|PMID:33917638|PMID:34036930|PMID:34117258|PMID:34213952|PMID:34426522|PMID:35029900|PMID:9536098 12378668 BAG3 BAG cochaperone 3 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1317192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:28492532 12378668 BAG3 BAG cochaperone 3 gene DOID:11832 visual epilepsy ISO RGD:1307794 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, astrocyte PMID:12085992|REF_RGD_ID:2325847 12378668 BAG3 BAG cochaperone 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 12378668 BAG3 BAG cochaperone 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21353195|PMID:21459883|PMID:2159883|PMID:21898660|PMID:22337857|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25448463|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26467025|PMID:27042682|PMID:27896284|PMID:28166811|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28798025|PMID:30012837|PMID:31333075|PMID:31568572 12378668 BAG3 BAG cochaperone 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317192 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21353195|PMID:21459883|PMID:2159883|PMID:21898660|PMID:22337857|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25448463|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26467025|PMID:27042682|PMID:27896284|PMID:28166811|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28798025|PMID:30012837|PMID:31333075|PMID:31568572|PMID:34213952 12378668 BAG3 BAG cochaperone 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317192 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21353195|PMID:21459883|PMID:2159883|PMID:21898660|PMID:22337857|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25448463|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26467025|PMID:27042682|PMID:27896284|PMID:28166811|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28798025|PMID:30012837|PMID:30847666|PMID:31333075|PMID:31568572|PMID:34213952 12378668 BAG3 BAG cochaperone 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317192 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21353195|PMID:21459883|PMID:2159883|PMID:21898660|PMID:22337857|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25448463|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26467025|PMID:27042682|PMID:27896284|PMID:28166811|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28798025|PMID:30012837|PMID:30442290|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32458740|PMID:34213952 12378668 BAG3 BAG cochaperone 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317192 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21353195|PMID:21459883|PMID:2159883|PMID:21898660|PMID:22337857|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25448463|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26467025|PMID:26512958|PMID:27042682|PMID:27896284|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28798025|PMID:30012837|PMID:30442290|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32458740|PMID:34213952 12378668 BAG3 BAG cochaperone 3 gene DOID:1793 pancreatic cancer ISO RGD:1317192 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:11513873|REF_RGD_ID:2325843 12378668 BAG3 BAG cochaperone 3 gene DOID:3068 glioblastoma treatment ISO RGD:1307794 D RGD:9068941 20200609 RGD PMID:21561597|REF_RGD_ID:5687132 12378668 BAG3 BAG cochaperone 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1317192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17187345 12378668 BAG3 BAG cochaperone 3 gene DOID:574 peripheral nervous system disease ISO RGD:1317192 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:19085932|PMID:20301672|PMID:20605452|PMID:21361913|PMID:21676617|PMID:21898660|PMID:22734908|PMID:25208129|PMID:25273835|PMID:25326635|PMID:25728519|PMID:25741868|PMID:26545904|PMID:27164712|PMID:27321750|PMID:27443559|PMID:28224639|PMID:28492532|PMID:29338979|PMID:30061062|PMID:30145633|PMID:30384889|PMID:33146414|PMID:34117258|PMID:35029900 12378668 BAG3 BAG cochaperone 3 gene DOID:630 genetic disease ISO RGD:1317192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12378668 BAG3 BAG cochaperone 3 gene DOID:820 myocarditis ISO RGD:1317192 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myocarditis PMID:21459883|PMID:24033266|PMID:24558114|PMID:25008357|PMID:25448463|PMID:25741868|PMID:28492532|PMID:34213952 12378668 BAG3 BAG cochaperone 3 gene DOID:870 neuropathy ISO RGD:1317192 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:19085932|PMID:20301672|PMID:20605452|PMID:21361913|PMID:21676617|PMID:21898660|PMID:22734908|PMID:25208129|PMID:25273835|PMID:25326635|PMID:25728519|PMID:25741868|PMID:26545904|PMID:27164712|PMID:27321750|PMID:27443559|PMID:28224639|PMID:28492532|PMID:29338979|PMID:30061062|PMID:30145633|PMID:30384889|PMID:33146414|PMID:34117258|PMID:35029900 12378668 BAG3 BAG cochaperone 3 gene DOID:9004009 Reperfusion Injury ISO RGD:1307794 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, astrocyte PMID:12061864|REF_RGD_ID:2325848 12378668 BAG3 BAG cochaperone 3 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:1317192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:25741868|PMID:28492532 12378678 TAF3 TATA-box binding protein associated factor 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1323524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12378678 TAF3 TATA-box binding protein associated factor 3 gene DOID:630 genetic disease ISO RGD:1323524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378704 OR6N2 olfactory receptor family 6 subfamily N member 2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1350201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12378704 OR6N2 olfactory receptor family 6 subfamily N member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1350201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12378704 OR6N2 olfactory receptor family 6 subfamily N member 2 gene DOID:630 genetic disease ISO RGD:1350201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378704 OR6N2 olfactory receptor family 6 subfamily N member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12378707 GIPC2 GIPC PDZ domain containing family member 2 gene DOID:630 genetic disease ISO RGD:1603220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378717 ASTN1 astrotactin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12378717 ASTN1 astrotactin 1 gene DOID:630 genetic disease ISO RGD:1602904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378717 ASTN1 astrotactin 1 gene DOID:9000998 Brain Injuries ISO RGD:1602904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14499481 12378717 ASTN1 astrotactin 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1602904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12378717 ASTN1 astrotactin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:730884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:0080324 tuberous sclerosis 1 ISO RGD:730884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:730884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:0080600 COVID-19 ISO RGD:730884 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:32558485 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:0080600 COVID-19 susceptibility ISO RGD:730884 D RGD:9068941 20200709 RGD DNA:polymorphism:cds:allele A, allele O (human) PMID:32379894|REF_RGD_ID:35668862 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:0081097 Rafiq syndrome ISO RGD:730884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:0081267 graft-versus-host disease ISO RGD:730884 D RGD:9068941 20200609 RGD PMID:3289150|REF_RGD_ID:11100006 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:10763 hypertension susceptibility ISO RGD:730884 D RGD:9068941 20200709 RGD associated with COVID-19; DNA:polymorphism:cds:allele A (human) PMID:32379894|REF_RGD_ID:35668862 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:11162 respiratory failure ISO RGD:730884 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32558485 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:1240 leukemia susceptibility ISO RGD:730884 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:18426641|REF_RGD_ID:11100002 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:13406 pulmonary sarcoidosis severity ISO RGD:730884 D RGD:9068941 20200609 RGD PMID:9036208|REF_RGD_ID:5128833 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:14067 Plasmodium falciparum malaria susceptibility ISO RGD:730884 D RGD:9068941 20201015 RGD DNA:SNPs,haplotype:multiple PMID:18003641|REF_RGD_ID:39938831 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:730884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:1496 echinococcosis ISO RGD:730884 D RGD:9068941 20200609 RGD PMID:2142987|REF_RGD_ID:5128834 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:1724 duodenal ulcer ISO RGD:730884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22387998 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:1793 pancreatic cancer ISO RGD:730884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19648918|PMID:26098869 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:1793 pancreatic cancer ISO RGD:730884 D RGD:9068941 20200609 RGD PMID:20103627|REF_RGD_ID:2317511 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:2237 hepatitis susceptibility ISO RGD:730884 D RGD:9068941 20200709 RGD associated with COVID-19; DNA:polymorphism:cds:allele A (human) PMID:32379894|REF_RGD_ID:35668862 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:2841 asthma ISO RGD:730884 D RGD:9068941 20200609 RGD PMID:16008680|REF_RGD_ID:5128831 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:2841 asthma no_association ISO RGD:730884 D RGD:9068941 20200609 RGD PMID:19771478|REF_RGD_ID:5128835 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:2945 severe acute respiratory syndrome susceptibility ISO RGD:730884 D RGD:9068941 20200730 RGD PMID:15784866|REF_RGD_ID:5128832 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:3393 coronary artery disease ISO RGD:730884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:3652 Leigh disease ISO RGD:730884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:4001 ovarian carcinoma ISO RGD:730884 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:25581431 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:4948 gallbladder carcinoma ISO RGD:730884 D RGD:9068941 20200609 RGD PMID:7795450|REF_RGD_ID:2317512 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:552 pneumonia severity ISO RGD:730884 D RGD:9068941 20201015 RGD DNA:polymorphism:cds:allele A (human) PMID:4375858|REF_RGD_ID:39938844 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:583 hemolytic anemia ISO RGD:730884 D RGD:9068941 20200609 RGD PMID:3136561|REF_RGD_ID:11100010 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9000528 Coronary Disease ISO RGD:730884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Three Vessel Coronary Disease 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9000873 Adenoviridae Infections susceptibility ISO RGD:730884 D RGD:9068941 20201015 RGD DNA:polymorphism:cds:allele AB (human) PMID:4375858|REF_RGD_ID:39938844 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9001488 Human Influenza ISO RGD:730884 D RGD:9068941 20200609 RGD PMID:6189297|REF_RGD_ID:5128836 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9001488 Human Influenza susceptibility ISO RGD:730884 D RGD:9068941 20201015 RGD DNA:polymorphism:cds:allele AB (human) PMID:4375858|REF_RGD_ID:39938844 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9001827 Critical Illness ISO RGD:730884 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32558485 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9002304 Prostatic Neoplasms ISO RGD:730884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9003505 Venous Thromboembolism susceptibility ISO RGD:730884 D RGD:9068941 20200609 RGD DNA:polymorphism:: PMID:15735796|REF_RGD_ID:11100013 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9004484 Sepsis severity ISO RGD:730884 D RGD:9068941 20201015 RGD DNA:polymorphism:cds:allele A (human) PMID:4375858|REF_RGD_ID:39938844 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9004590 Acute Liver Failure treatment ISO RGD:730884 D RGD:9068941 20201015 RGD associated with Chronic Hepatitis B PMID:22321886|REF_RGD_ID:39938835 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9006532 Hematologic Neoplasms susceptibility ISO RGD:730884 D RGD:9068941 20200609 RGD PMID:19274076|REF_RGD_ID:11100003 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9007096 Stroke ISO RGD:730884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9007417 Pseudomonas Infections susceptibility ISO RGD:730884 D RGD:9068941 20200813 RGD DNA:polymorphism:cds:allele B (human) PMID:22464692|REF_RGD_ID:38455983 12378746 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:730884 D RGD:9068941 20200609 RGD PMID:17065136|REF_RGD_ID:11100012 12378763 ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1348132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12378763 ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12378763 ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1348132 D RGD:7240710 20180130 OMIM 12378763 ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1348132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:17576681|PMID:19377476|PMID:22796527|PMID:24357419|PMID:24811172|PMID:25649377|PMID:25741868|PMID:28492532|PMID:28687527|PMID:29681091|PMID:9536098 12378763 ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1348132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:22965764|PMID:28492532 12378763 ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:1059 intellectual disability ISO RGD:1348132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17436253|PMID:24811172|PMID:25741868|PMID:28492532|PMID:29681091 12378763 ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:1059 intellectual disability ISO RGD:1348132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17436253|PMID:25741868|PMID:28492532|PMID:29681091 12378763 ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:12849 autistic disorder ISO RGD:1348132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12378763 ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:630 genetic disease ISO RGD:1348132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24357419|PMID:28492532 12378763 ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12378776 AKIRIN1 akirin 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12378776 AKIRIN1 akirin 1 gene DOID:630 genetic disease ISO RGD:1606232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378786 SPATC1L spermatogenesis and centriole associated 1 like gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1344058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12378786 SPATC1L spermatogenesis and centriole associated 1 like gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1344058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 12378786 SPATC1L spermatogenesis and centriole associated 1 like gene DOID:0110266 cataract 9 multiple types ISO RGD:1344058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12378786 SPATC1L spermatogenesis and centriole associated 1 like gene DOID:12849 autistic disorder ISO RGD:1344058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12378786 SPATC1L spermatogenesis and centriole associated 1 like gene DOID:630 genetic disease ISO RGD:1344058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378786 SPATC1L spermatogenesis and centriole associated 1 like gene DOID:891 progressive myoclonus epilepsy ISO RGD:1344058 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12378786 SPATC1L spermatogenesis and centriole associated 1 like gene DOID:9263 homocystinuria ISO RGD:1344058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12378786 SPATC1L spermatogenesis and centriole associated 1 like gene DOID:9562 primary ciliary dyskinesia ISO RGD:1344058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12378794 FBXL13 F-box and leucine rich repeat protein 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12378794 FBXL13 F-box and leucine rich repeat protein 13 gene DOID:630 genetic disease ISO RGD:1353687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378830 RADX RPA1 related single stranded DNA binding protein, X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12378830 RADX RPA1 related single stranded DNA binding protein, X-linked gene DOID:12849 autistic disorder ISO RGD:1605981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12378850 KREMEN2 kringle containing transmembrane protein 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1321902 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12378850 KREMEN2 kringle containing transmembrane protein 2 gene DOID:1826 epilepsy ISO RGD:1321902 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12378850 KREMEN2 kringle containing transmembrane protein 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1321902 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12378850 KREMEN2 kringle containing transmembrane protein 2 gene DOID:3070 high grade glioma ISO RGD:1321902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12378850 KREMEN2 kringle containing transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:1321902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378863 RTRAF RNA transcription, translation and transport factor gene DOID:630 genetic disease ISO RGD:1312305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378875 TP53I3 tumor protein p53 inducible protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1602900 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12378875 TP53I3 tumor protein p53 inducible protein 3 gene DOID:0080600 COVID-19 ISO RGD:1602900 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12378875 TP53I3 tumor protein p53 inducible protein 3 gene DOID:305 carcinoma ISO RGD:1602900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 12378875 TP53I3 tumor protein p53 inducible protein 3 gene DOID:630 genetic disease ISO RGD:1602900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378875 TP53I3 tumor protein p53 inducible protein 3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1602900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 12378885 DNAJC11 DnaJ heat shock protein family (Hsp40) member C11 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1317094 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12378885 DNAJC11 DnaJ heat shock protein family (Hsp40) member C11 gene DOID:630 genetic disease ISO RGD:1317094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378885 DNAJC11 DnaJ heat shock protein family (Hsp40) member C11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12378909 CNTN2 contactin 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:734311 D RGD:7240710 20180130 OMIM 12378909 CNTN2 contactin 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:734311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:11178983|PMID:16199547|PMID:17576681|PMID:23518707|PMID:25741868|PMID:28492532|PMID:9536098 12378909 CNTN2 contactin 2 gene DOID:12849 autistic disorder ISO RGD:734311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12378909 CNTN2 contactin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:734311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12378909 CNTN2 contactin 2 gene DOID:1826 epilepsy ISO RGD:734311 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12378909 CNTN2 contactin 2 gene DOID:3070 high grade glioma severity ISO RGD:734311 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain (human) PMID:11280781|REF_RGD_ID:734799 12378909 CNTN2 contactin 2 gene DOID:5602 T-cell adult acute lymphocytic leukemia ISO RGD:11392 D RGD:9068941 20220825 MouseDO 12378909 CNTN2 contactin 2 gene DOID:630 genetic disease ISO RGD:734311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12378909 CNTN2 contactin 2 gene DOID:850 lung disease ISO RGD:734311 D RGD:9068941 20200806 RGD associated with HTLV-I Infections;mRNA:increased expression:bronchoalveolar lavage: PMID:24292748|REF_RGD_ID:36947872 12378909 CNTN2 contactin 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:734311 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12378909 CNTN2 contactin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12378936 DHH desert hedgehog signaling molecule gene DOID:0111774 46,XY sex reversal 7 ISO RGD:1345874 D RGD:7240710 20180130 OMIM 12378936 DHH desert hedgehog signaling molecule gene DOID:0111774 46,XY sex reversal 7 ISO RGD:1345874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 7 PMID:15356051|PMID:25741868|PMID:28492532|PMID:30298535 12378936 DHH desert hedgehog signaling molecule gene DOID:14448 46,XY sex reversal ISO RGD:1345874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XY DSD/46,XY CGD 12378936 DHH desert hedgehog signaling molecule gene DOID:14448 46,XY sex reversal susceptibility ISO RGD:1345874 D RGD:9068941 20200609 RGD DNA:missense mutation:exon PMID:11017805|REF_RGD_ID:1601053 12378936 DHH desert hedgehog signaling molecule gene DOID:1923 disorder of sexual development ISO RGD:1345874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 12378936 DHH desert hedgehog signaling molecule gene DOID:630 genetic disease ISO RGD:1345874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12378936 DHH desert hedgehog signaling molecule gene DOID:9006824 46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy ISO RGD:1345874 D RGD:7240710 20180130 OMIM 12378936 DHH desert hedgehog signaling molecule gene DOID:9006824 46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy ISO RGD:1345874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy PMID:11017805|PMID:11891836|PMID:25927242|PMID:28589169|PMID:28708305|PMID:29471294 12378945 MFSD11 major facilitator superfamily domain containing 11 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1603960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:27993330 12378945 MFSD11 major facilitator superfamily domain containing 11 gene DOID:630 genetic disease ISO RGD:1603960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379019 COL4A5 collagen type IV alpha 5 chain gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1351504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 12379019 COL4A5 collagen type IV alpha 5 chain gene DOID:0050563 nonsyndromic deafness ISO RGD:1351504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:28492532|PMID:30311386 12379019 COL4A5 collagen type IV alpha 5 chain gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12379019 COL4A5 collagen type IV alpha 5 chain gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1351504 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:11462238|PMID:11572889|PMID:12028435|PMID:14514738|PMID:17396119|PMID:19344236|PMID:19965530|PMID:23144074|PMID:23720012|PMID:24033266|PMID:24046192|PMID:25741868|PMID:26467025|PMID:27627812|PMID:28492532|PMID:30577881|PMID:30773290|PMID:7599631|PMID:7695699|PMID:8218237|PMID:8651296|PMID:8940267|PMID:9848783 12379019 COL4A5 collagen type IV alpha 5 chain gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1351504 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome PMID:25741868 12379019 COL4A5 collagen type IV alpha 5 chain gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1351504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:32581362 12379019 COL4A5 collagen type IV alpha 5 chain gene DOID:0110032 autosomal dominant Alport syndrome ISO RGD:1351504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant Alport syndrome PMID:10752524|PMID:12028435|PMID:14514738|PMID:16199547|PMID:19344236|PMID:19965530|PMID:23144074|PMID:23720012|PMID:24046192|PMID:24854265|PMID:25741868|PMID:26809805|PMID:27627812|PMID:28492532|PMID:30577881|PMID:30773290|PMID:7599631|PMID:7695699|PMID:8218237|PMID:8651296|PMID:8940267|PMID:9195222|PMID:9848783 12379019 COL4A5 collagen type IV alpha 5 chain gene DOID:0110034 X-linked Alport syndrome IAGP D RGD:12801476 20220629 OMIA Nephritis, X-linked PMID:7210449|PMID:1928300|PMID:2072666|PMID:1466151|PMID:8171024|PMID:8662866|PMID:9127294|PMID:9447482|PMID:10188823|PMID:11549602|PMID:12595505|PMID:12598321|PMID:12879362|PMID:15782307|PMID:16221211|PMID:3711721|PMID:3799818|PMID:18931484|PMID:23464675|PMID:27959966|PMID:3124348|PMID:3453267|PMID:3651895|PMID:3550289|PMID:2437692|PMID:6742105|PMID:884645|PMID:12147777|PMID:26917550|PMID:29196624 12379019 COL4A5 collagen type IV alpha 5 chain gene DOID:0110034 X-linked Alport syndrome ISO RGD:1351504 D RGD:7240710 20180130 OMIM 12379019 COL4A5 collagen type IV alpha 5 chain gene DOID:0110034 X-linked Alport syndrome ISO RGD:1351504 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome PMID:10094548|PMID:10561141|PMID:10684360|PMID:10752524|PMID:11223851|PMID:11462238|PMID:11572889|PMID:12028435|PMID:12105244|PMID:12796257|PMID:1330889|PMID:1352287|PMID:13582260|PMID:1363780|PMID:1376965|PMID:14514738|PMID:14604828|PMID:14856448|PMID:14993485|PMID:15044104|PMID:1577459|PMID:15780079|PMID:15954103|PMID:15957001|PMID:1598909|PMID:16199547|PMID:1672282|PMID:16941480|PMID:17277342|PMID:17396119|PMID:17576681|PMID:17660027|PMID:1783380|PMID:18083113|PMID:18343956|PMID:19019929|PMID:19281745|PMID:19344236|PMID:19728970|PMID:19919694|PMID:19965530|PMID:20130921|PMID:20301386|PMID:20378821|PMID:20881942|PMID:20884774|PMID:21332469|PMID:21505094|PMID:21688191|PMID:21848006|PMID:22921432|PMID:22995991|PMID:23144074|PMID:2349482|PMID:23572034|PMID:23720012|PMID:23967202|PMID:24033266|PMID:24033287|PMID:24046192|PMID:24077912|PMID:24088041|PMID:24130771|PMID:24304881|PMID:24470729|PMID:24472419|PMID:24522658|PMID:24759409|PMID:24854265|PMID:25183659|PMID:25525159|PMID:25575550|PMID:25739341|PMID:25741868|PMID:25741911|PMID:25788563|PMID:25876686|PMID:26467025|PMID:26613025|PMID:26633545|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27353043|PMID:27627812|PMID:27725732|PMID:27989324|PMID:28492532|PMID:28542346|PMID:28780565|PMID:28827396|PMID:28844315|PMID:29095814|PMID:29098738|PMID:29127259|PMID:29142990|PMID:29144512|PMID:29198386|PMID:29204651|PMID:29270492|PMID:29526710|PMID:29801666|PMID:29854973|PMID:29959198|PMID:30128941|PMID:30295827|PMID:30311386|PMID:30477285|PMID:30577881|PMID:30586318|PMID:30647093|PMID:30655312|PMID:30691124|PMID:30773290|PMID:30919572|PMID:31027891|PMID:31096494|PMID:31138263|PMID:31144478|PMID:31576025|PMID:31850286|PMID:32405592|PMID:32659759|PMID:32939031|PMID:33040356|PMID:33309955|PMID:33532864|PMID:33633790|PMID:34008892|PMID:34215756|PMID:34400539|PMID:35802133|PMID:36633841|PMID:6650503|PMID:7485125|PMID:7599631|PMID:7695699|PMID:7969679|PMID:8218237|PMID:8406498|PMID:8433568|PMID:8455372|PMID:8648925|PMID:8651292|PMID:8651296|PMID:8738805|PMID:8807602|PMID:8825605|PMID:8887300|PMID:8940267|PMID:9150741|PMID:9195222|PMID:9536098|PMID:9848783 12379019 COL4A5 collagen type IV alpha 5 chain gene DOID:0111365 benign familial hematuria ISO RGD:1351504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria PMID:25741868 12379019 COL4A5 collagen type IV alpha 5 chain gene DOID:10763 hypertension ISO RGD:1351504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertension PMID:11223851|PMID:12028435|PMID:17396119|PMID:19728970|PMID:19965530|PMID:20378821|PMID:21332469|PMID:21688191|PMID:24077912|PMID:24470729|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:28492532|PMID:28844315|PMID:29142990|PMID:29526710|PMID:29854973|PMID:30691124|PMID:31850286|PMID:33309955|PMID:34008892|PMID:9848783 12379019 COL4A5 collagen type IV alpha 5 chain gene DOID:10952 nephritis ISO RGD:1351504 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Nephritis PMID:25741868 12379019 COL4A5 collagen type IV alpha 5 chain gene DOID:10983 Alport syndrome ISO RGD:1351504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria | ClinVar Annotator: match by term: Disease of glomerular basement membrane PMID:10563487|PMID:10752524|PMID:11223851|PMID:12028435|PMID:14514738|PMID:15044104|PMID:15780079|PMID:15954103|PMID:17396119|PMID:18083113|PMID:19344236|PMID:19728970|PMID:19919694|PMID:19965530|PMID:20301386|PMID:20378821|PMID:21332469|PMID:21688191|PMID:23144074|PMID:2349482|PMID:23572034|PMID:23720012|PMID:24046192|PMID:24077912|PMID:24130771|PMID:24304881|PMID:24470729|PMID:24854265|PMID:25525159|PMID:25572247|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:27627812|PMID:28492532|PMID:28542346|PMID:28844315|PMID:29127259|PMID:29142990|PMID:29526710|PMID:29854973|PMID:30577881|PMID:30655312|PMID:30691124|PMID:30773290|PMID:30968591|PMID:31850286|PMID:31922066|PMID:32405592|PMID:33309955|PMID:33532864|PMID:34008892|PMID:7599631|PMID:7695699|PMID:8218237|PMID:8455372|PMID:8648925|PMID:8651292|PMID:8651296|PMID:8940267|PMID:9195222|PMID:9848783 12379019 COL4A5 collagen type IV alpha 5 chain gene DOID:1184 nephrotic syndrome ISO RGD:1351504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:15044104|PMID:19344236|PMID:20378821|PMID:23720012|PMID:24130771|PMID:25741868|PMID:27627812|PMID:28492532|PMID:28542346|PMID:29127259|PMID:32405592|PMID:7599631|PMID:7695699|PMID:8218237|PMID:9848783 12379019 COL4A5 collagen type IV alpha 5 chain gene DOID:12849 autistic disorder ISO RGD:1351504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12379019 COL4A5 collagen type IV alpha 5 chain gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1351504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:10561141|PMID:10752524|PMID:14514738|PMID:14993485|PMID:15780079|PMID:21505094|PMID:24033266|PMID:24854265|PMID:25741868|PMID:26809805|PMID:27281700|PMID:28492532|PMID:28844315|PMID:8648925|PMID:9195222 12379019 COL4A5 collagen type IV alpha 5 chain gene DOID:557 kidney disease ISO RGD:1351504 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:10094548|PMID:10561141|PMID:11462238|PMID:12105244|PMID:15780079|PMID:15957001|PMID:17576681|PMID:18343956|PMID:19965530|PMID:22921432|PMID:22995991|PMID:23967202|PMID:24033266|PMID:25575550|PMID:25739341|PMID:25741868|PMID:25788563|PMID:26467025|PMID:27627812|PMID:27725732|PMID:28492532|PMID:28827396|PMID:30311386|PMID:30477285|PMID:30577881|PMID:31138263|PMID:31576025|PMID:8406498|PMID:8455372|PMID:8940267|PMID:9536098 12379019 COL4A5 collagen type IV alpha 5 chain gene DOID:576 proteinuria ISO RGD:1351504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:25741868 12379019 COL4A5 collagen type IV alpha 5 chain gene DOID:630 genetic disease ISO RGD:1351504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10094548|PMID:19344236|PMID:23720012|PMID:25741868|PMID:27627812|PMID:28492532|PMID:30311386|PMID:7695699|PMID:8218237 12379019 COL4A5 collagen type IV alpha 5 chain gene DOID:9000104 Glomerular Diseases ISO RGD:1351504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glomerulopathy PMID:11223851|PMID:12028435|PMID:17396119|PMID:19728970|PMID:19965530|PMID:20378821|PMID:21332469|PMID:21688191|PMID:24077912|PMID:24470729|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:28492532|PMID:28844315|PMID:29142990|PMID:29526710|PMID:29854973|PMID:30691124|PMID:31850286|PMID:33309955|PMID:34008892|PMID:9848783 12379019 COL4A5 collagen type IV alpha 5 chain gene DOID:9000363 Hematuria ISO RGD:1351504 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hematuria PMID:11223851|PMID:12028435|PMID:12796257|PMID:14514738|PMID:14604828|PMID:18083113|PMID:19919694|PMID:19965530|PMID:20130921|PMID:20301386|PMID:20378821|PMID:21505094|PMID:21848006|PMID:24046192|PMID:25741868|PMID:26467025|PMID:27627812|PMID:28492532|PMID:29144512|PMID:29526710|PMID:30311386|PMID:31027891|PMID:9150741 12379019 COL4A5 collagen type IV alpha 5 chain gene DOID:9001767 Unilateral Hearing Loss ISO RGD:1351504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Unilateral deafness PMID:25741868 12379019 COL4A5 collagen type IV alpha 5 chain gene DOID:9004538 Hearing Loss ISO RGD:1351504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:10094548|PMID:11462238|PMID:12105244|PMID:15957001|PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:30477285|PMID:8406498|PMID:8455372|PMID:9536098 12379019 COL4A5 collagen type IV alpha 5 chain gene DOID:9005549 Epithelioid Leiomyoma ISO RGD:1351504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17069596 12379082 RSF1 remodeling and spacing factor 1 gene DOID:1059 intellectual disability ISO RGD:1322599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12379082 RSF1 remodeling and spacing factor 1 gene DOID:630 genetic disease ISO RGD:1322599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379104 ABRAXAS1 abraxas 1, BRCA1 A complex subunit gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1604576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 12379104 ABRAXAS1 abraxas 1, BRCA1 A complex subunit gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1604576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:32566746 12379104 ABRAXAS1 abraxas 1, BRCA1 A complex subunit gene DOID:630 genetic disease ISO RGD:1604576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12379104 ABRAXAS1 abraxas 1, BRCA1 A complex subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604576 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24240112|PMID:25741868|PMID:26556299|PMID:26845104|PMID:27270457|PMID:28166811|PMID:28492532|PMID:31159747|PMID:31361614|PMID:31980526 12379104 ABRAXAS1 abraxas 1, BRCA1 A complex subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604576 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17525340|PMID:17643121|PMID:22357538|PMID:24240112|PMID:25503501|PMID:25741868|PMID:26556299|PMID:26845104|PMID:27270457|PMID:28492532|PMID:31000350|PMID:31159747|PMID:31361614|PMID:31630195|PMID:31980526|PMID:32566746|PMID:32658311|PMID:33471991|PMID:34117267 12379104 ABRAXAS1 abraxas 1, BRCA1 A complex subunit gene DOID:9256 colorectal cancer ISO RGD:1604576 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:25741868|PMID:28492532 12379121 SULT1C3 sulfotransferase family 1C member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1606856 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12379121 SULT1C3 sulfotransferase family 1C member 3 gene DOID:0111201 distal hereditary motor neuronopathy type 7A ISO RGD:1606856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:28492532 12379121 SULT1C3 sulfotransferase family 1C member 3 gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1606856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PMID:10431241|PMID:10431242|PMID:18854857|PMID:20979233|PMID:28492532|PMID:28981473 12379121 SULT1C3 sulfotransferase family 1C member 3 gene DOID:630 genetic disease ISO RGD:1606856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379121 SULT1C3 sulfotransferase family 1C member 3 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1606856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:28492532 12379121 SULT1C3 sulfotransferase family 1C member 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1606856 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12379137 SLC44A4 solute carrier family 44 member 4 gene DOID:0050553 JMP syndrome ISO RGD:1349303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12379137 SLC44A4 solute carrier family 44 member 4 gene DOID:0080268 autosomal dominant nonsyndromic deafness 72 ISO RGD:1349303 D RGD:7240710 20190315 OMIM 12379137 SLC44A4 solute carrier family 44 member 4 gene DOID:0080268 autosomal dominant nonsyndromic deafness 72 ISO RGD:1349303 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 72 PMID:25741868|PMID:28013291|PMID:28492532 12379137 SLC44A4 solute carrier family 44 member 4 gene DOID:630 genetic disease ISO RGD:1349303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12379162 IMPG1 interphotoreceptor matrix proteoglycan 1 gene DOID:0050661 vitelliform macular dystrophy ISO RGD:1352807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12379162 IMPG1 interphotoreceptor matrix proteoglycan 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1352807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868 12379162 IMPG1 interphotoreceptor matrix proteoglycan 1 gene DOID:4448 macular degeneration ISO RGD:1352807 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:28041643|PMID:28492532|PMID:32581362 12379162 IMPG1 interphotoreceptor matrix proteoglycan 1 gene DOID:630 genetic disease ISO RGD:1352807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12379162 IMPG1 interphotoreceptor matrix proteoglycan 1 gene DOID:8501 fundus dystrophy ISO RGD:1352807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:23993198|PMID:28492532|PMID:28644393|PMID:30688845|PMID:9536098 12379162 IMPG1 interphotoreceptor matrix proteoglycan 1 gene DOID:9000341 Concentric Annular Macular Dystrophy ISO RGD:1352807 D RGD:7240710 20210929 OMIM 12379162 IMPG1 interphotoreceptor matrix proteoglycan 1 gene DOID:9000341 Concentric Annular Macular Dystrophy ISO RGD:1352807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Benign concentric annular macular dystrophy PMID:14691150|PMID:16199547|PMID:23993198|PMID:25741868|PMID:28492532|PMID:32817297|PMID:4412179 12379162 IMPG1 interphotoreceptor matrix proteoglycan 1 gene DOID:9002891 Vitelliform Macular Dystrophy 2 ISO RGD:1352807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 PMID:25741868 12379162 IMPG1 interphotoreceptor matrix proteoglycan 1 gene DOID:9008898 Vitelliform Macular Dystrophy 4 ISO RGD:1352807 D RGD:7240710 20180130 OMIM 12379162 IMPG1 interphotoreceptor matrix proteoglycan 1 gene DOID:9008898 Vitelliform Macular Dystrophy 4 ISO RGD:1352807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 4 PMID:16199547|PMID:23993198|PMID:25741868|PMID:28492532|PMID:28644393|PMID:30688845|PMID:32817297 12379183 SALL2 spalt like transcription factor 2 gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1345005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11528500|PMID:23105016|PMID:28492532 12379183 SALL2 spalt like transcription factor 2 gene DOID:12270 coloboma ISO RGD:1345005 D RGD:7240710 20180130 OMIM 12379183 SALL2 spalt like transcription factor 2 gene DOID:12270 coloboma ISO RGD:1345005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coloboma, ocular, autosomal recessive PMID:24412933|PMID:25741868 12379183 SALL2 spalt like transcription factor 2 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1345005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12379183 SALL2 spalt like transcription factor 2 gene DOID:630 genetic disease ISO RGD:1345005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12379183 SALL2 spalt like transcription factor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1345005 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12379189 LOC482919 claudin-22 gene DOID:630 genetic disease ISO RGD:1349320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379195 LOC484858 olfactory receptor 10H3 gene DOID:630 genetic disease ISO RGD:1348272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379199 SDSL serine dehydratase like gene DOID:630 genetic disease ISO RGD:1319395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379243 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:0060041 autism spectrum disorder ISO RGD:736048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 12379243 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:736048 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 12379243 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:0112215 developmental and epileptic encephalopathy 79 ISO RGD:736048 D RGD:7240710 20190911 OMIM 12379243 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:0112215 developmental and epileptic encephalopathy 79 ISO RGD:736048 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 79 PMID:25741868|PMID:28492532|PMID:29961870|PMID:31056671|PMID:31513310 12379243 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:11983 Prader-Willi syndrome ISO RGD:736048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 12379243 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:12849 autistic disorder ISO RGD:736048 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 12379243 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:1596 depressive disorder ISO RGD:736048 D RGD:9068941 20200609 RGD DNA:repeat:: (human) PMID:9267853|REF_RGD_ID:1358629 12379243 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:1826 epilepsy ISO RGD:736048 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12379243 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:1932 Angelman syndrome ISO RGD:736048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:26633545 12379243 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:3312 bipolar disorder ISO RGD:736048 D RGD:9068941 20200609 RGD PMID:9514592|REF_RGD_ID:1358630 12379243 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:5419 schizophrenia ISO RGD:736048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12379243 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:630 genetic disease ISO RGD:736048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379243 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12379243 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:9004864 Isodicentric Chromosome 15 Syndrome ISO RGD:736048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23663378 12379243 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:9007072 Social Communication Disorder ISO RGD:736048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27231709 12379243 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:9008023 Memory Disorders ISO RGD:736048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20180861 12379243 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:736048 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:11198279|PMID:26068938|PMID:26950270|PMID:28053010|PMID:28492532 12379275 PGPEP1L pyroglutamyl-peptidase I like gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:3052652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 12379275 PGPEP1L pyroglutamyl-peptidase I like gene DOID:630 genetic disease ISO RGD:3052652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:0050331 LADD syndrome ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: LACRIMOAURICULODENTODIGITAL SYNDROME | ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16501574|PMID:16841094|PMID:17384684|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28483234|PMID:28492532|PMID:32238909|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Short ribs PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:18642369|PMID:1908846|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8858131|PMID:9677066 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:0050736 autosomal dominant disease ISO RGD:733045 D RGD:9068941 20220825 MouseDO 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:733044 D RGD:9068941 20200813 RGD associated with human papillomavirus;DNA:missense mutation:cds: p.S249C (human) PMID:30563911|REF_RGD_ID:38500239 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:0050920 tonsil squamous cell carcinoma severity ISO RGD:733044 D RGD:9068941 20200806 RGD associated with human papillomavirus;protein:decreased expression:tumor cells (human) PMID:30061236|REF_RGD_ID:36947883 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:0060041 autism spectrum disorder ISO RGD:733044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:0060249 scoliosis ISO RGD:733045 D RGD:9068941 20220825 MouseDO 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:0060703 Muenke syndrome ISO RGD:733044 D RGD:7240710 20180130 OMIM 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:0060703 Muenke syndrome ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Muenke syndrome | ClinVar Annotator: match by term: Syndrome of coronal craniosynostosis PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16841094|PMID:17384684|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28492532|PMID:31976144|PMID:32238909|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:0070004 myeloid neoplasm ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myeloproliferative disorder PMID:11429702|PMID:19088846|PMID:19331127|PMID:19381019|PMID:20301540|PMID:20542753|PMID:21273588|PMID:22869148|PMID:23200862|PMID:24419316|PMID:24476948|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28249712|PMID:28492532|PMID:29593476|PMID:30692697|PMID:31299979|PMID:8845844|PMID:9438390|PMID:9843049 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:0070309 absence epilepsy ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Absence seizures PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:0080006 bone development disease ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:16912704|PMID:18642369|PMID:1908846|PMID:19215249|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25741868|PMID:26619011|PMID:28492532|PMID:32981126|PMID:7773297|PMID:8858131|PMID:9677066 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:0080041 hypochondroplasia ISO RGD:733044 D RGD:7240710 20180130 OMIM 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:0080041 hypochondroplasia ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypochondroplasia PMID:10053006|PMID:10073901|PMID:10094188|PMID:10215410|PMID:10360392|PMID:10360393|PMID:10361991|PMID:10395236|PMID:10425034|PMID:10471491|PMID:10607835|PMID:10671061|PMID:10696568|PMID:10777366|PMID:10861678|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11314002|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11754059|PMID:11879084|PMID:12707965|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15517832|PMID:15772091|PMID:15915095|PMID:16766665|PMID:16841094|PMID:16912704|PMID:17256796|PMID:17384684|PMID:17526800|PMID:17552943|PMID:17875876|PMID:17895900|PMID:18000903|PMID:18076102|PMID:18198189|PMID:18252861|PMID:18266238|PMID:18328977|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301331|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:20624921|PMID:21324899|PMID:21510009|PMID:21739570|PMID:22016144|PMID:22045636|PMID:22339077|PMID:22622662|PMID:22628360|PMID:22903874|PMID:23045425|PMID:23056398|PMID:23149434|PMID:23165795|PMID:23573386|PMID:23726269|PMID:23972473|PMID:24411048|PMID:24715719|PMID:24728327|PMID:25157968|PMID:25505835|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25728633|PMID:25741868|PMID:25777271|PMID:25809207|PMID:26220993|PMID:26380986|PMID:26467025|PMID:26619011|PMID:26740388|PMID:26754866|PMID:26818779|PMID:26887047|PMID:26992226|PMID:28181399|PMID:28230213|PMID:28492532|PMID:28763161|PMID:28777845|PMID:29595812|PMID:29620724|PMID:29681095|PMID:30138938|PMID:30355600|PMID:30681580|PMID:30692697|PMID:30753492|PMID:31048079|PMID:31130284|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32238909|PMID:32502767|PMID:33942288|PMID:4697848|PMID:7647778|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589686|PMID:8589699|PMID:8673103|PMID:8723101|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9450868|PMID:9452043|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9672519|PMID:9677066|PMID:9842995|PMID:9843059|PMID:9857065|PMID:9950359 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:0111158 SADDAN ISO RGD:733044 D RGD:7240710 20180418 OMIM 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:0111158 SADDAN ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: SADDAN dysplasia | ClinVar Annotator: match by term: Severe achondroplasia with developmental delay and acanthosis nigricans PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16841094|PMID:17384684|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome ISO RGD:733044 D RGD:7240710 20180130 OMIM 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Camptodactyly, tall stature, and hearing loss syndrome | ClinVar Annotator: match by term: Camptodactyly-tall stature-scoliosis-hearing loss syndrome PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16199547|PMID:16841094|PMID:17033969|PMID:17384684|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:22016144|PMID:22622662|PMID:24728327|PMID:24864036|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:27139183|PMID:28252636|PMID:28492532|PMID:32238909|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:0111161 Crouzon syndrome-acanthosis nigricans syndrome ISO RGD:733044 D RGD:7240710 20180130 OMIM 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:0111161 Crouzon syndrome-acanthosis nigricans syndrome ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Crouzon syndrome with acanthosis nigricans | ClinVar Annotator: match by term: Crouzon syndrome-acanthosis nigricans syndrome PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11426459|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16841094|PMID:17384684|PMID:17552943|PMID:17576681|PMID:17875876|PMID:17935505|PMID:18076102|PMID:18583390|PMID:18642369|PMID:18976668|PMID:1908846|PMID:19088846|PMID:19165726|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20199409|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:21536014|PMID:22016144|PMID:22622662|PMID:23437153|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7493034|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:8880573|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9536098|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:0111162 epidermal nevus ISO RGD:733044 D RGD:7240710 20180130 OMIM 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:0111162 epidermal nevus ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epidermal nevus | ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10607835|PMID:10671061|PMID:10696568|PMID:10861678|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12009017|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15517832|PMID:15772091|PMID:15915095|PMID:16766665|PMID:16841094|PMID:17384684|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18266238|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301331|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:20624921|PMID:21324899|PMID:21510009|PMID:21739570|PMID:22016144|PMID:22045636|PMID:22622662|PMID:23056398|PMID:24728327|PMID:24863959|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28230213|PMID:28492532|PMID:28777845|PMID:29681095|PMID:30138938|PMID:30692697|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32238909|PMID:32502767|PMID:33942288|PMID:7647778|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589699|PMID:8673103|PMID:8723106|PMID:8841188|PMID:8845844|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9790257|PMID:9843059|PMID:9857065|PMID:9950359 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26467025|PMID:26893459|PMID:28492532 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:11054 urinary bladder cancer ISO RGD:733044 D RGD:7240710 20180130 OMIM 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:11054 urinary bladder cancer ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11314002|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16841094|PMID:16912704|PMID:17384684|PMID:17552943|PMID:17875876|PMID:18000903|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:733044 D RGD:9068941 20200609 RGD DNA:mutation PMID:18166262|REF_RGD_ID:2301224 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:733044 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:18072261|REF_RGD_ID:2301225 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:11054 urinary bladder cancer severity ISO RGD:733044 D RGD:9068941 20200609 RGD DNA:mutations PMID:18231634|REF_RGD_ID:2301223 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:1115 sarcoma ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:25741868|PMID:28492532 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:11166 papillomavirus infectious disease ISO RGD:733044 D RGD:9068941 20211119 RGD associated with head and neck squamous cell carcinoma;DNA:missense mutation:cds: p.S249C (human) PMID:25056374|REF_RGD_ID:38500237 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:12960 acrocephalosyndactylia ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:13481 thanatophoric dysplasia ISO RGD:733044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19855393 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:13481 thanatophoric dysplasia ISO RGD:733044 D RGD:9068941 20200609 RGD DNA:transition:CDS:742C>T, amino acid R248C PMID:10073901|REF_RGD_ID:2289863 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:13481 thanatophoric dysplasia ISO RGD:733044 D RGD:9068941 20200609 RGD protein:increased expression:necleus,chondrocyte: PMID:9302269|REF_RGD_ID:11568030 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:13481 thanatophoric dysplasia ISO RGD:733045 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.S365C (mouse) PMID:11181569|REF_RGD_ID:12910972 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:13481 thanatophoric dysplasia ISO RGD:733045 D RGD:9068941 20220825 MouseDO OMIM:187600 | OMIM:187601 | OMIM:273680 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:14764 Larsen syndrome ISO RGD:733044 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Larsen syndrome PMID:10360392|PMID:10361991|PMID:10395236|PMID:10777366|PMID:11055896|PMID:11754059|PMID:12707965|PMID:16912704|PMID:18198189|PMID:19088846|PMID:22045636|PMID:23149434|PMID:23165795|PMID:24715719|PMID:25614871|PMID:25741868|PMID:26380986|PMID:28492532|PMID:7670477|PMID:8589686|PMID:9452043|PMID:9672519 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:14768 Saethre-Chotzen syndrome ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Saethre-Chotzen syndrome PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:1520 colon carcinoma ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma PMID:10073901|PMID:10471491|PMID:10696568|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11529856|PMID:11879084|PMID:11906172|PMID:12833394|PMID:15772091|PMID:16841094|PMID:17384684|PMID:17875876|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20453470|PMID:21510009|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26818779|PMID:28492532|PMID:7773297|PMID:8589699|PMID:8858131|PMID:9677066 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:1612 breast cancer ISO RGD:733044 D RGD:9068941 20200609 RGD protein:altered localization:even cytoplasmic-nuclear distribution to primarily nuclear PMID:11329138|REF_RGD_ID:2289867 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:1826 epilepsy ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seizure PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:1856 cherubism ISO RGD:733044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:2339 Crouzon syndrome ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Craniofacial dysostosis PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:2340 craniosynostosis ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis, nonspecific PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:2671 transitional cell carcinoma ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:10073901|PMID:10471491|PMID:10696568|PMID:11038465|PMID:11241532|PMID:11429702|PMID:11529856|PMID:11879084|PMID:12833394|PMID:15772091|PMID:16841094|PMID:17384684|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19331127|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20542753|PMID:21273588|PMID:22869148|PMID:23200862|PMID:24419316|PMID:24476948|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28249712|PMID:28492532|PMID:29593476|PMID:30692697|PMID:31299979|PMID:7773297|PMID:8589699|PMID:8845844|PMID:8858131|PMID:9438390|PMID:9677066|PMID:9843049 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:2871 endometrial carcinoma ISO RGD:733044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:2893 cervix carcinoma ISO RGD:733044 D RGD:9068941 20200609 RGD DNA:missense mutation:CDS:amino acid S249C, only found in 1/51 primary tumors and no cell lines tested implying that mutation frequency is much lower than previously reported PMID:11114733|REF_RGD_ID:2289865 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:2893 cervix carcinoma ISO RGD:733044 D RGD:9068941 20200609 RGD DNA:missense mutations:CDS:somatic mutations found in 3/12 (25%) of cervix carcinomas, all mutations are equivalent to activating germline mutations which cause thanatophoric dysplasia PMID:10471491|REF_RGD_ID:2289864 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:2998 testicular cancer ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cancer of the testes PMID:10073901|PMID:10471491|PMID:10696568|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11529856|PMID:11879084|PMID:12833394|PMID:15772091|PMID:16841094|PMID:17384684|PMID:17875876|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20453470|PMID:21510009|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26818779|PMID:28492532|PMID:7773297|PMID:8589699|PMID:8858131|PMID:9677066 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:305 carcinoma ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma PMID:10073901|PMID:10471491|PMID:10696568|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11426459|PMID:11429702|PMID:11529856|PMID:11879084|PMID:12009017|PMID:12624096|PMID:12833394|PMID:15772091|PMID:15880580|PMID:16752380|PMID:16841094|PMID:16912704|PMID:17384684|PMID:17935505|PMID:18642369|PMID:18976668|PMID:1908846|PMID:19088846|PMID:19165726|PMID:19331127|PMID:19381019|PMID:19749790|PMID:19855393|PMID:20199409|PMID:20301540|PMID:20453470|PMID:20542753|PMID:21273588|PMID:21510009|PMID:21536014|PMID:22869148|PMID:23200862|PMID:23437153|PMID:24075385|PMID:24419316|PMID:24476948|PMID:25157968|PMID:25326635|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28249712|PMID:28492532|PMID:29593476|PMID:30692697|PMID:31299979|PMID:7493034|PMID:7773297|PMID:8589699|PMID:8845844|PMID:8858131|PMID:8880573|PMID:9207791|PMID:9438390|PMID:9677066|PMID:9843049|PMID:9857065 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:3138 acanthosis nigricans ISO RGD:733044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acanthosis nigricans PMID:11055896|PMID:11314002|PMID:16912704|PMID:17875876|PMID:18000903|PMID:20453470|PMID:21510009|PMID:25157968|PMID:28492532 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:3213 demyelinating disease ISO RGD:733045 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:11020217|REF_RGD_ID:8655565 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:3371 chondrosarcoma ISO RGD:620714 D RGD:9068941 20200609 RGD protein:increased expression:growth plate PMID:17907424|REF_RGD_ID:11568634 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:3458 breast adenocarcinoma no_association ISO RGD:733044 D RGD:9068941 20200609 RGD DNA:mutation:exons:no mutations found in mutation hotspots in exons 7, 10 or 15 PMID:11466624|REF_RGD_ID:2289868 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:3744 cervical squamous cell carcinoma no_association ISO RGD:733044 D RGD:9068941 20200813 RGD DNA:missense mutation:cds: p.S249G (human) PMID:11605053|REF_RGD_ID:38500202 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:3907 lung squamous cell carcinoma ISO RGD:733044 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:10073901|PMID:10471491|PMID:10696568|PMID:11038465|PMID:11241532|PMID:11529856|PMID:11879084|PMID:12833394|PMID:15772091|PMID:16841094|PMID:17384684|PMID:18642369|PMID:1908846|PMID:19381019|PMID:19749790|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8589699|PMID:8858131|PMID:9677066 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:3910 lung adenocarcinoma ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:18642369|PMID:1908846|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8858131|PMID:9677066 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:3965 Merkel cell carcinoma ISO RGD:733044 D RGD:9068941 20200813 RGD mRNA:decreased expression:skin (human) PMID:28359267|REF_RGD_ID:38500206 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:4006 bladder urothelial carcinoma severity ISO RGD:733044 D RGD:9068941 20200813 RGD protein:increased expression:urothelial cells (human) PMID:28507621|REF_RGD_ID:38500205 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:4007 bladder carcinoma ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Urinary bladder carcinoma PMID:10471491|PMID:11038465|PMID:11055896|PMID:11314002|PMID:11429702|PMID:11879084|PMID:12009017|PMID:15772091|PMID:15880580|PMID:16841094|PMID:16912704|PMID:17384684|PMID:18000903|PMID:19088846|PMID:19331127|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20453470|PMID:20542753|PMID:21273588|PMID:21510009|PMID:22869148|PMID:23200862|PMID:24419316|PMID:24476948|PMID:24863959|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28249712|PMID:28492532|PMID:29593476|PMID:30692697|PMID:31299979|PMID:7773297|PMID:8589699|PMID:8845844|PMID:9438390|PMID:9790257|PMID:9843049 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:4362 cervical cancer ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cancer of cervix | ClinVar Annotator: match by term: Cervical cancer PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16841094|PMID:17384684|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:4440 seminoma ISO RGD:733044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19855393 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:4465 papillary renal cell carcinoma ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:10471491|PMID:11038465|PMID:11429702|PMID:11879084|PMID:15772091|PMID:17384684|PMID:19088846|PMID:19331127|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20542753|PMID:21273588|PMID:22869148|PMID:23200862|PMID:24419316|PMID:24476948|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28249712|PMID:28492532|PMID:29593476|PMID:30692697|PMID:31299979|PMID:8589699|PMID:8845844|PMID:9438390|PMID:9843049 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:4480 achondroplasia ISO RGD:733044 D RGD:7240710 20180130 OMIM 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:4480 achondroplasia ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Achondroplasia | ClinVar Annotator: match by term: Skeleton skin brain syndrome PMID:10053006|PMID:10073901|PMID:10094188|PMID:10215410|PMID:10360392|PMID:10360393|PMID:10361991|PMID:10395236|PMID:10425034|PMID:10471491|PMID:10587515|PMID:10607835|PMID:10671061|PMID:10696568|PMID:10777366|PMID:10861678|PMID:10893668|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11754059|PMID:11879084|PMID:12707965|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15517832|PMID:15772091|PMID:15915095|PMID:16766665|PMID:16841094|PMID:16912704|PMID:17256796|PMID:17384684|PMID:17526800|PMID:17552943|PMID:17875876|PMID:17895900|PMID:18076102|PMID:18198189|PMID:18266238|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301331|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:20624921|PMID:21324899|PMID:21510009|PMID:21739570|PMID:22016144|PMID:22045636|PMID:22339077|PMID:22529939|PMID:22622662|PMID:22628360|PMID:23045425|PMID:23056398|PMID:23149434|PMID:23165795|PMID:23573386|PMID:23972473|PMID:24715719|PMID:24728327|PMID:25157968|PMID:25505835|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25728633|PMID:25741868|PMID:25777271|PMID:25809207|PMID:26220993|PMID:26380986|PMID:26467025|PMID:26619011|PMID:26740388|PMID:26818779|PMID:26887047|PMID:26992226|PMID:28230213|PMID:28492532|PMID:28777845|PMID:29620724|PMID:29681095|PMID:30138938|PMID:30355600|PMID:30692697|PMID:31130284|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32238909|PMID:32502767|PMID:33942288|PMID:4697848|PMID:7647778|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7758520|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589686|PMID:8589699|PMID:8599370|PMID:8673103|PMID:8723101|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9450868|PMID:9452043|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9672519|PMID:9677066|PMID:9842995|PMID:9843059|PMID:9857065|PMID:9950359 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:4480 achondroplasia severity ISO RGD:733044 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.K650M(human) PMID:10377013|REF_RGD_ID:11568054 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:18642369|PMID:1908846|PMID:19381019|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8589699|PMID:8858131|PMID:9677066 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733044 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma PMID:10073901|PMID:10471491|PMID:10696568|PMID:11038465|PMID:11241532|PMID:11529856|PMID:11879084|PMID:12833394|PMID:15772091|PMID:16841094|PMID:17384684|PMID:18642369|PMID:1908846|PMID:19381019|PMID:19749790|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8589699|PMID:8858131|PMID:9677066 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:5557 testicular germ cell cancer ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis PMID:10053006|PMID:10094188|PMID:10425034|PMID:10671061|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:17875876|PMID:18076102|PMID:19088846|PMID:19215249|PMID:20301540|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25614871|PMID:25728633|PMID:25741868|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7647778|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9857065|PMID:9950359 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:5834 spermatocytoma ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spermatocytic seminoma PMID:10471491|PMID:11055896|PMID:11241532|PMID:11429702|PMID:12624096|PMID:16752380|PMID:16912704|PMID:19088846|PMID:19855393|PMID:20301540|PMID:20453470|PMID:21510009|PMID:24075385|PMID:25741868|PMID:28492532|PMID:7773297|PMID:9207791|PMID:9677066 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:630 genetic disease ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10094188|PMID:10215410|PMID:10360392|PMID:10361991|PMID:10395236|PMID:10607835|PMID:10777366|PMID:10861678|PMID:10979354|PMID:11030304|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11424131|PMID:11426459|PMID:11746040|PMID:11754059|PMID:12707965|PMID:14613973|PMID:15241680|PMID:15517832|PMID:15915095|PMID:16766665|PMID:16841094|PMID:16912704|PMID:17552943|PMID:17935505|PMID:18198189|PMID:18266238|PMID:18976668|PMID:19088846|PMID:19165726|PMID:19215249|PMID:20199409|PMID:20301331|PMID:20301588|PMID:20301628|PMID:20624921|PMID:21324899|PMID:21536014|PMID:21739570|PMID:22016144|PMID:22045636|PMID:22622662|PMID:23045425|PMID:23056398|PMID:23149434|PMID:23165795|PMID:23437153|PMID:23972473|PMID:24715719|PMID:24728327|PMID:25326635|PMID:25614871|PMID:25691418|PMID:25741868|PMID:26220993|PMID:26380986|PMID:26467025|PMID:26740388|PMID:26893459|PMID:26992226|PMID:28230213|PMID:28492532|PMID:28777845|PMID:29681095|PMID:30138938|PMID:30692697|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32238909|PMID:32502767|PMID:33942288|PMID:7493034|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589686|PMID:8673103|PMID:8723106|PMID:8841188|PMID:8880573|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9452043|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9672519|PMID:9843059|PMID:9857065|PMID:9950359 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:6498 seborrheic keratosis ISO RGD:733044 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratosis Seborrheica PMID:10073901|PMID:10471491|PMID:10696568|PMID:11038465|PMID:11241532|PMID:11529856|PMID:11879084|PMID:12833394|PMID:15772091|PMID:16841094|PMID:17384684|PMID:18642369|PMID:1908846|PMID:19381019|PMID:19749790|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8589699|PMID:8858131|PMID:9677066 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:65 connective tissue disease ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:10073901|PMID:10360392|PMID:10361991|PMID:10395236|PMID:10471491|PMID:10607835|PMID:10696568|PMID:10777366|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11529856|PMID:11754059|PMID:11879084|PMID:12707965|PMID:12833394|PMID:15517832|PMID:15772091|PMID:16766665|PMID:16841094|PMID:16912704|PMID:17384684|PMID:18198189|PMID:18252861|PMID:18266238|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19381019|PMID:19749790|PMID:20301331|PMID:20301540|PMID:20624921|PMID:21324899|PMID:21739570|PMID:22045636|PMID:23056398|PMID:23149434|PMID:23165795|PMID:24715719|PMID:24728327|PMID:25157968|PMID:25505835|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25741868|PMID:25777271|PMID:26380986|PMID:26467025|PMID:26619011|PMID:26887047|PMID:28230213|PMID:28492532|PMID:28777845|PMID:29593476|PMID:29681095|PMID:30138938|PMID:30692697|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32502767|PMID:33942288|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589686|PMID:8589699|PMID:8673103|PMID:8858131|PMID:9279764|PMID:9452043|PMID:9672519|PMID:9677066 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:6536 plasma cell neoplasm ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:18642369|PMID:1908846|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8858131|PMID:9677066 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:674 cleft palate ISO RGD:733044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:687 hepatoblastoma ISO RGD:733044 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:769 neuroblastoma ISO RGD:733044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:8552 chronic myeloid leukemia ISO RGD:733044 D RGD:9068941 20200806 RGD mRNA:increased expression:peripheral blood (human) PMID:14562121|REF_RGD_ID:36947884 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:8567 Hodgkin's lymphoma ISO RGD:733044 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Classic Hodgkin lymphoma PMID:28492532|PMID:32934698 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:8649 tongue cancer severity ISO RGD:733044 D RGD:9068941 20200806 RGD associated with human papillomavirus;protein:decreased expression:tumor cells PMID:30061236|REF_RGD_ID:36947883 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:9002331 Knee Osteoarthritis treatment ISO RGD:733045 D RGD:9068941 20200609 RGD PMID:27159076|REF_RGD_ID:11568056 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:9002835 LADD Syndrome 2 ISO RGD:733044 D RGD:7240710 20230125 OMIM 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:9002862 Craniosynostosis 3 ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Coronal craniosynostosis PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:733044 D RGD:7240710 20180130 OMIM 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:9003571 Paraproteinemias ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:18642369|PMID:1908846|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8858131|PMID:9677066 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:733044 D RGD:7240710 20180130 OMIM 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Male germ cell tumor, somatic | ClinVar Annotator: match by term: Testicular germ cell tumor PMID:10053006|PMID:10094188|PMID:10425034|PMID:10671061|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:17875876|PMID:18076102|PMID:19088846|PMID:19215249|PMID:20301540|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25614871|PMID:25728633|PMID:25741868|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7647778|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9857065|PMID:9950359 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:733044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:733044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:9004806 Thanatophoric Dysplasia, Type II ISO RGD:733044 D RGD:7240710 20180130 OMIM 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:9004806 Thanatophoric Dysplasia, Type II ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Thanatophoric dysplasia with Kleeblattschaedel | ClinVar Annotator: match by term: Thanatophoric dysplasia, type 2 PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11429702|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12624096|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16752380|PMID:16841094|PMID:16912704|PMID:17384684|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:19855393|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:22016144|PMID:22622662|PMID:24075385|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:9006257 Growth Disorders ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:18642369|PMID:1908846|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8858131|PMID:9677066 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:9006534 Nervous System Malformations ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:9007253 Hamartoma ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hamartoma PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:18642369|PMID:1908846|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8858131|PMID:9677066 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:9007661 Dwarfism ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:10073901|PMID:10360392|PMID:10361991|PMID:10395236|PMID:10471491|PMID:10696568|PMID:10777366|PMID:11055896|PMID:11241532|PMID:11529856|PMID:11754059|PMID:12707965|PMID:12833394|PMID:15772091|PMID:16841094|PMID:16912704|PMID:18198189|PMID:18642369|PMID:1908846|PMID:19088846|PMID:20301540|PMID:22045636|PMID:22903874|PMID:23149434|PMID:23165795|PMID:24411048|PMID:24715719|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26380986|PMID:26619011|PMID:28492532|PMID:29595812|PMID:7670477|PMID:7773297|PMID:8589686|PMID:8858131|PMID:9452043|PMID:9672519|PMID:9677066 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:10471491|PMID:11038465|PMID:11429702|PMID:11879084|PMID:15772091|PMID:17384684|PMID:19088846|PMID:19331127|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20542753|PMID:21273588|PMID:22869148|PMID:23200862|PMID:24419316|PMID:24476948|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28249712|PMID:28492532|PMID:29593476|PMID:30692697|PMID:31299979|PMID:8589699|PMID:8845844|PMID:9438390|PMID:9843049 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:9008086 Developmental Disabilities ISO RGD:733044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:9008166 Achondroplastic Dwarfism ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Achondroplastic dwarfism PMID:10053006|PMID:10073901|PMID:10094188|PMID:10215410|PMID:10360392|PMID:10360393|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10777366|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12707965|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16841094|PMID:17384684|PMID:17526800|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:22016144|PMID:22622662|PMID:22628360|PMID:23045425|PMID:23165795|PMID:23573386|PMID:23972473|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26220993|PMID:26619011|PMID:26740388|PMID:26818779|PMID:26992226|PMID:28492532|PMID:29620724|PMID:30138938|PMID:30355600|PMID:31130284|PMID:32238909|PMID:4697848|PMID:7647778|PMID:7670477|PMID:7773297|PMID:8589686|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9450868|PMID:9452043|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9672519|PMID:9677066|PMID:9842995|PMID:9843059|PMID:9857065|PMID:9950359 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:10094188|PMID:10861678|PMID:11424131|PMID:11426459|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:17935505|PMID:18976668|PMID:19165726|PMID:19215249|PMID:20199409|PMID:20301588|PMID:20301628|PMID:21536014|PMID:22016144|PMID:22622662|PMID:23437153|PMID:24728327|PMID:25326635|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:7493034|PMID:8723106|PMID:8841188|PMID:8880573|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9857065|PMID:9950359 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733044 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:9008797 Facial Asymmetry ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Facial asymmetry PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:9008968 Thanatophoric Dysplasia, Type I ISO RGD:733044 D RGD:7240710 20180130 OMIM 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:9008968 Thanatophoric Dysplasia, Type I ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11429702|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12009017|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16841094|PMID:17384684|PMID:17509076|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19331127|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:20542753|PMID:21273588|PMID:21510009|PMID:22016144|PMID:22622662|PMID:22869148|PMID:23200862|PMID:24419316|PMID:24476948|PMID:24728327|PMID:24863959|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28249712|PMID:28492532|PMID:29593476|PMID:30692697|PMID:31299979|PMID:32238909|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8845844|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9438390|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9790257|PMID:9843049|PMID:9843059|PMID:9857065|PMID:9950359 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16841094|PMID:17384684|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:9256 colorectal cancer ISO RGD:733044 D RGD:7240710 20200226 OMIM 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:9256 colorectal cancer ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10053006|PMID:10094188|PMID:10425034|PMID:10671061|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:17875876|PMID:18076102|PMID:19088846|PMID:19215249|PMID:20301540|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25614871|PMID:25728633|PMID:25741868|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7647778|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9857065|PMID:9950359 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:9296 cleft lip ISO RGD:733044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 12379289 FGFR3 fibroblast growth factor receptor 3 gene DOID:9538 multiple myeloma ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:10073901|PMID:10471491|PMID:10696568|PMID:11055896|PMID:11241532|PMID:11429702|PMID:11529856|PMID:12624096|PMID:12833394|PMID:15772091|PMID:16752380|PMID:16841094|PMID:16912704|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19855393|PMID:20301540|PMID:20453470|PMID:21510009|PMID:24075385|PMID:25157968|PMID:25606676|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8858131|PMID:9207791|PMID:9677066 12379322 CCDC178 coiled-coil domain containing 178 gene DOID:1059 intellectual disability ISO RGD:1317773 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12379322 CCDC178 coiled-coil domain containing 178 gene DOID:630 genetic disease ISO RGD:1317773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379363 MPPE1 metallophosphoesterase 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1319383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12379363 MPPE1 metallophosphoesterase 1 gene DOID:1059 intellectual disability ISO RGD:1319383 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12379363 MPPE1 metallophosphoesterase 1 gene DOID:543 dystonia ISO RGD:1319383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 12379363 MPPE1 metallophosphoesterase 1 gene DOID:630 genetic disease ISO RGD:1319383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379390 GNA13 G protein subunit alpha 13 gene DOID:630 genetic disease ISO RGD:1320997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379390 GNA13 G protein subunit alpha 13 gene DOID:8584 Burkitt lymphoma ISO RGD:1320997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 12379390 GNA13 G protein subunit alpha 13 gene DOID:9007387 Oligodontia-Colorectal Cancer Syndrome ISO RGD:1320997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome PMID:28492532 12379401 OR2A37 olfactory receptor family 2 subfamily A member 37 gene DOID:630 genetic disease ISO RGD:1348102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379405 NAP1L2 nucleosome assembly protein 1 like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12379405 NAP1L2 nucleosome assembly protein 1 like 2 gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:1345486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 PMID:24403048 12379405 NAP1L2 nucleosome assembly protein 1 like 2 gene DOID:0080600 COVID-19 ISO RGD:1345486 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12379405 NAP1L2 nucleosome assembly protein 1 like 2 gene DOID:12849 autistic disorder ISO RGD:1345486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12379405 NAP1L2 nucleosome assembly protein 1 like 2 gene DOID:630 genetic disease ISO RGD:1345486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379410 OCRL OCRL inositol polyphosphate-5-phosphatase gene DOID:0050699 Dent disease ISO RGD:1350136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dent disease PMID:15108291|PMID:21031565|PMID:21971085|PMID:27398910|PMID:29300302 12379410 OCRL OCRL inositol polyphosphate-5-phosphatase gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1350136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis PMID:23047739|PMID:25741868|PMID:26694549|PMID:28492532 12379410 OCRL OCRL inositol polyphosphate-5-phosphatase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12379410 OCRL OCRL inositol polyphosphate-5-phosphatase gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1350136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:22796527|PMID:24357419|PMID:28492532 12379410 OCRL OCRL inositol polyphosphate-5-phosphatase gene DOID:0080600 COVID-19 ISO RGD:1350136 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12379410 OCRL OCRL inositol polyphosphate-5-phosphatase gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1350136 D RGD:7240710 20180130 OMIM 12379410 OCRL OCRL inositol polyphosphate-5-phosphatase gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1350136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lowe syndrome | ClinVar Annotator: match by term: Oculocerebrorenal Syndrome PMID:10364518|PMID:10767176|PMID:10923037|PMID:11149618|PMID:14981612|PMID:15627218|PMID:16199547|PMID:16381338|PMID:17142121|PMID:17162149|PMID:17384968|PMID:17576681|PMID:17765681|PMID:18500547|PMID:19390221|PMID:19902262|PMID:20301653|PMID:21031565|PMID:21225285|PMID:21233288|PMID:21666675|PMID:22381590|PMID:22965764|PMID:23047739|PMID:24081861|PMID:24711037|PMID:24912603|PMID:25305077|PMID:25326635|PMID:25480730|PMID:25741868|PMID:26694549|PMID:27059748|PMID:27625797|PMID:27708066|PMID:28492532|PMID:28669993|PMID:28803024|PMID:28973083|PMID:29300302|PMID:30773290|PMID:31672324|PMID:31674016|PMID:32712215|PMID:34125233|PMID:34139759|PMID:8504307|PMID:9199559|PMID:9536098|PMID:9632163|PMID:9682219|PMID:9788721 12379410 OCRL OCRL inositol polyphosphate-5-phosphatase gene DOID:1059 intellectual disability ISO RGD:1350136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12379410 OCRL OCRL inositol polyphosphate-5-phosphatase gene DOID:12849 autistic disorder ISO RGD:1350136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12379410 OCRL OCRL inositol polyphosphate-5-phosphatase gene DOID:630 genetic disease ISO RGD:1350136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19390221|PMID:21031565|PMID:22381590|PMID:23047739|PMID:25326635|PMID:25480730|PMID:25741868|PMID:26694549|PMID:28492532 12379410 OCRL OCRL inositol polyphosphate-5-phosphatase gene DOID:83 cataract ISO RGD:1350136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:23047739|PMID:25741868|PMID:26694549|PMID:28492532 12379410 OCRL OCRL inositol polyphosphate-5-phosphatase gene DOID:9007045 Dent Disease 2 ISO RGD:1350136 D RGD:7240710 20180130 OMIM 12379410 OCRL OCRL inositol polyphosphate-5-phosphatase gene DOID:9007045 Dent Disease 2 ISO RGD:1350136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dent disease type 2 PMID:1321346|PMID:15627218|PMID:16381338|PMID:17162149|PMID:17384968|PMID:19390221|PMID:21031565|PMID:22381590|PMID:23047739|PMID:24081861|PMID:25480730|PMID:25741868|PMID:26694549|PMID:27625797|PMID:28018608|PMID:28492532|PMID:28803024|PMID:31674016|PMID:34125233|PMID:34139759|PMID:8504307 12379440 TSLP thymic stromal lymphopoietin gene DOID:0050211 swine influenza treatment ISO RGD:1621562 D RGD:9068941 20200903 RGD PMID:32060507|REF_RGD_ID:38549590 12379440 TSLP thymic stromal lymphopoietin gene DOID:0060496 respiratory allergy ISO RGD:1604556 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28329851 12379440 TSLP thymic stromal lymphopoietin gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604556 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12379440 TSLP thymic stromal lymphopoietin gene DOID:10112 sleeping sickness susceptibility ISO RGD:1621562 D RGD:9068941 20200903 RGD protein:increased expression:serum (mouse) PMID:28769924|REF_RGD_ID:38549587 12379440 TSLP thymic stromal lymphopoietin gene DOID:10459 common cold ISO RGD:1604556 D RGD:9068941 20200904 RGD protein:increased expression:nasal mucus (human) PMID:28471975|REF_RGD_ID:38596342 12379440 TSLP thymic stromal lymphopoietin gene DOID:10976 membranous glomerulonephritis treatment ISO RGD:1621562 D RGD:9068941 20200903 RGD PMID:11920357|REF_RGD_ID:38549592 12379440 TSLP thymic stromal lymphopoietin gene DOID:12365 malaria ISO RGD:1621562 D RGD:9068941 20200904 RGD mRNA:altered expression:multiple (mouse) PMID:28955823|REF_RGD_ID:38596344 12379440 TSLP thymic stromal lymphopoietin gene DOID:1252 trichuriasis susceptibility ISO RGD:1621562 D RGD:9068941 20200903 RGD PMID:19273626|REF_RGD_ID:38549593 12379440 TSLP thymic stromal lymphopoietin gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1604556 D RGD:9068941 20200904 RGD protein:increased expression:nasal mucus (human) PMID:28471975|REF_RGD_ID:38596342 12379440 TSLP thymic stromal lymphopoietin gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1621562 D RGD:9068941 20200903 RGD PMID:27156176|REF_RGD_ID:38549376 12379440 TSLP thymic stromal lymphopoietin gene DOID:1273 respiratory syncytial virus infectious disease sexual_dimorphism ISO RGD:1621562 D RGD:9068941 20200910 RGD mRNA:increased expression:lung (mouse) PMID:31076663|REF_RGD_ID:38596346 12379440 TSLP thymic stromal lymphopoietin gene DOID:13922 eosinophilic esophagitis ISO RGD:1604556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20208534 12379440 TSLP thymic stromal lymphopoietin gene DOID:2841 asthma ISO RGD:1604556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21804549 12379440 TSLP thymic stromal lymphopoietin gene DOID:2917 cryoglobulinemia ISO RGD:1621562 D RGD:9068941 20220825 MouseDO 12379440 TSLP thymic stromal lymphopoietin gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1604556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17686814 12379440 TSLP thymic stromal lymphopoietin gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1621562 D RGD:9068941 20220825 MouseDO 12379440 TSLP thymic stromal lymphopoietin gene DOID:3042 allergic contact dermatitis treatment ISO RGD:1621562 D RGD:9068941 20200910 RGD PMID:30187507|REF_RGD_ID:38596345 12379440 TSLP thymic stromal lymphopoietin gene DOID:3107 toxascariasis ISO RGD:1621562 D RGD:9068941 20200910 RGD mRNA:increased expression:multiple (mouse) PMID:24327787|REF_RGD_ID:38596353 12379440 TSLP thymic stromal lymphopoietin gene DOID:3310 atopic dermatitis ISO RGD:1604556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16880407|PMID:22355542|PMID:23688403|PMID:27869817 12379440 TSLP thymic stromal lymphopoietin gene DOID:3310 atopic dermatitis ISO RGD:1621562 D RGD:9068941 20220825 MouseDO OMIM:603165 12379440 TSLP thymic stromal lymphopoietin gene DOID:3310 atopic dermatitis treatment ISO RGD:1621562 D RGD:9068941 20201225 RGD PMID:29310423|REF_RGD_ID:38549374 12379440 TSLP thymic stromal lymphopoietin gene DOID:630 genetic disease ISO RGD:1604556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379440 TSLP thymic stromal lymphopoietin gene DOID:684 hepatocellular carcinoma ISO RGD:1604556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12379440 TSLP thymic stromal lymphopoietin gene DOID:718 autoimmune hemolytic anemia ISO RGD:1621562 D RGD:9068941 20220825 MouseDO OMIM:205700 12379440 TSLP thymic stromal lymphopoietin gene DOID:9001542 Albuminuria ISO RGD:1604556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17686814 12379440 TSLP thymic stromal lymphopoietin gene DOID:9002869 Schistosomiasis Mansoni treatment ISO RGD:1621562 D RGD:9068941 20200910 RGD PMID:22882457|REF_RGD_ID:38596354 12379440 TSLP thymic stromal lymphopoietin gene DOID:9003470 Picornaviridae Infections ISO RGD:1621562 D RGD:9068941 20200904 RGD mRNA, protein:increased expression:lung,bronchoalveolar lavage fluid (mouse) PMID:26100084|REF_RGD_ID:11085671 12379440 TSLP thymic stromal lymphopoietin gene DOID:9003470 Picornaviridae Infections ISO RGD:1621562 D RGD:9068941 20201001 RGD protein:increased expression:lung (mouse) PMID:28701507|REF_RGD_ID:38596334 12379440 TSLP thymic stromal lymphopoietin gene DOID:9004055 Fungal Keratitis disease_progression ISO RGD:1621562 D RGD:9068941 20200903 RGD PMID:29550278|PMID:30853520|REF_RGD_ID:38549371|REF_RGD_ID:38549574 12379440 TSLP thymic stromal lymphopoietin gene DOID:9004092 cryoglobulinemic vasculitis ISO RGD:1604556 D RGD:9068941 20200903 RGD associated with Chronic Hepatitis C; mRNA, protein:increased expression:skin, serum (human) PMID:25889007|REF_RGD_ID:38596329 12379440 TSLP thymic stromal lymphopoietin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12379440 TSLP thymic stromal lymphopoietin gene DOID:9004484 Sepsis disease_progression ISO RGD:1621562 D RGD:9068941 20200904 RGD protein:increased expression:peritoneum, plasma (mouse) PMID:26934097|REF_RGD_ID:38596335 12379440 TSLP thymic stromal lymphopoietin gene DOID:9004484 Sepsis treatment ISO RGD:1621562 D RGD:9068941 20200903 RGD PMID:24990542|REF_RGD_ID:38549375 12379440 TSLP thymic stromal lymphopoietin gene DOID:9005372 Inflammation ISO RGD:1604556 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28329851 12379440 TSLP thymic stromal lymphopoietin gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:1604556 D RGD:9068941 20200904 RGD mRNA, protein:increased expression:nasal mucus (human) PMID:28471975|REF_RGD_ID:38596342 12379440 TSLP thymic stromal lymphopoietin gene DOID:9006966 Pseudomonas Aeruginosa Keratitis severity ISO RGD:1621562 D RGD:9068941 20200903 RGD PMID:30128494|REF_RGD_ID:38596331 12379440 TSLP thymic stromal lymphopoietin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604556 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12379440 TSLP thymic stromal lymphopoietin gene DOID:9784 trichinosis disease_progression ISO RGD:1621562 D RGD:9068941 20200904 RGD PMID:23024277|REF_RGD_ID:38596337 12379448 NXPH1 neurexophilin 1 gene DOID:630 genetic disease ISO RGD:737134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379462 POLE3 DNA polymerase epsilon 3, accessory subunit gene DOID:630 genetic disease ISO RGD:1344068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379472 ZNF829 zinc finger protein 829 gene DOID:630 genetic disease ISO RGD:2292093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379507 LUC7L3 LUC7 like 3 pre-mRNA splicing factor gene DOID:630 genetic disease ISO RGD:1604358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379555 RUBCN rubicon autophagy regulator gene DOID:0080057 autosomal recessive spinocerebellar ataxia 15 ISO RGD:1353596 D RGD:7240710 20180130 OMIM 12379555 RUBCN rubicon autophagy regulator gene DOID:0080057 autosomal recessive spinocerebellar ataxia 15 ISO RGD:1353596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 15 PMID:20826435|PMID:23728897|PMID:25741868|PMID:28492532|PMID:30237576|PMID:32450808 12379555 RUBCN rubicon autophagy regulator gene DOID:630 genetic disease ISO RGD:1353596 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12379555 RUBCN rubicon autophagy regulator gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1353596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12379555 RUBCN rubicon autophagy regulator gene DOID:9008086 Developmental Disabilities ISO RGD:1353596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12379555 RUBCN rubicon autophagy regulator gene DOID:9074 systemic lupus erythematosus ISO RGD:1313444 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12379613 TEKT1 tektin 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:732609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12379613 TEKT1 tektin 1 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:732609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 12379613 TEKT1 tektin 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:732609 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12379613 TEKT1 tektin 1 gene DOID:12177 common variable immunodeficiency ISO RGD:732609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12379613 TEKT1 tektin 1 gene DOID:2729 dyskeratosis congenita ISO RGD:732609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12379613 TEKT1 tektin 1 gene DOID:630 genetic disease ISO RGD:732609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379637 TTLL12 tubulin tyrosine ligase like 12 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1604381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12379637 TTLL12 tubulin tyrosine ligase like 12 gene DOID:1059 intellectual disability ISO RGD:1604381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12379637 TTLL12 tubulin tyrosine ligase like 12 gene DOID:630 genetic disease ISO RGD:1604381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379637 TTLL12 tubulin tyrosine ligase like 12 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1604381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 12379655 TTC31 tetratricopeptide repeat domain 31 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1605049 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12379655 TTC31 tetratricopeptide repeat domain 31 gene DOID:543 dystonia ISO RGD:1605049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12379655 TTC31 tetratricopeptide repeat domain 31 gene DOID:630 genetic disease ISO RGD:1605049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379655 TTC31 tetratricopeptide repeat domain 31 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1605049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12379680 ZNRD2 zinc ribbon domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1323499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12379680 ZNRD2 zinc ribbon domain containing 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12379680 ZNRD2 zinc ribbon domain containing 2 gene DOID:2746 glycogen storage disease V ISO RGD:1323499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12379680 ZNRD2 zinc ribbon domain containing 2 gene DOID:3070 high grade glioma ISO RGD:1323499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12379680 ZNRD2 zinc ribbon domain containing 2 gene DOID:630 genetic disease ISO RGD:1323499 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379680 ZNRD2 zinc ribbon domain containing 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1323499 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12379680 ZNRD2 zinc ribbon domain containing 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1323499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 12379691 PHACTR2 phosphatase and actin regulator 2 gene DOID:0080600 COVID-19 ISO RGD:1344472 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12379691 PHACTR2 phosphatase and actin regulator 2 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1344472 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532 12379691 PHACTR2 phosphatase and actin regulator 2 gene DOID:10652 Alzheimer's disease ISO RGD:1344472 D RGD:9068941 20200609 RGD mRNA: splice variants PMID:20590401|REF_RGD_ID:6483097 12379691 PHACTR2 phosphatase and actin regulator 2 gene DOID:14330 Parkinson's disease ISO RGD:1344472 D RGD:9068941 20200609 RGD DNA: snp: intron: rs11155313 PMID:19429005|REF_RGD_ID:6483095 12379691 PHACTR2 phosphatase and actin regulator 2 gene DOID:2377 multiple sclerosis ISO RGD:1344472 D RGD:9068941 20200609 RGD DNA: snp: : rs1015340 PMID:20546594|REF_RGD_ID:6483093 12379691 PHACTR2 phosphatase and actin regulator 2 gene DOID:630 genetic disease ISO RGD:1344472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379712 EXOSC7 exosome component 7 gene DOID:630 genetic disease ISO RGD:1320266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379724 TYK2 tyrosine kinase 2 gene DOID:0080600 COVID-19 ISO RGD:1316192 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:33307546 12379724 TYK2 tyrosine kinase 2 gene DOID:0111989 immunodeficiency 35 ISO RGD:1316192 D RGD:7240710 20180130 OMIM 12379724 TYK2 tyrosine kinase 2 gene DOID:0111989 immunodeficiency 35 ISO RGD:1316192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 35 | ClinVar Annotator: match by term: Susceptibility to infection due to TYK2 deficiency PMID:16199547|PMID:17088085|PMID:17576681|PMID:21680795|PMID:22402565|PMID:24033266|PMID:25388448|PMID:25741868|PMID:25849893|PMID:26288847|PMID:26304966|PMID:27615517|PMID:27872624|PMID:28492532|PMID:29725107|PMID:30578352|PMID:31118190|PMID:32537443|PMID:33260630|PMID:33667394|PMID:34569645|PMID:35708626|PMID:9536098 12379724 TYK2 tyrosine kinase 2 gene DOID:12236 primary biliary cholangitis ISO RGD:1316192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22961000 12379724 TYK2 tyrosine kinase 2 gene DOID:12849 autistic disorder ISO RGD:1316192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20957522 12379724 TYK2 tyrosine kinase 2 gene DOID:2377 multiple sclerosis ISO RGD:1316192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19525955 12379724 TYK2 tyrosine kinase 2 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1316192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23471820 12379724 TYK2 tyrosine kinase 2 gene DOID:630 genetic disease ISO RGD:1316192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12379724 TYK2 tyrosine kinase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1316192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596|PMID:30224649 12379724 TYK2 tyrosine kinase 2 gene DOID:8778 Crohn's disease ISO RGD:1316192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 12379724 TYK2 tyrosine kinase 2 gene DOID:8893 psoriasis ISO RGD:1316192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953190 12379724 TYK2 tyrosine kinase 2 gene DOID:9004890 Paranoid Disorders ISO RGD:1316192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 12379724 TYK2 tyrosine kinase 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1316192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 12379724 TYK2 tyrosine kinase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1316192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Virus-induced diabetes PMID:26288847 12379724 TYK2 tyrosine kinase 2 gene DOID:9970 obesity ISO RGD:1316193 D RGD:9068941 20220825 MouseDO OMIM:601665 12379753 TTLL9 tubulin tyrosine ligase like 9 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1345675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12379753 TTLL9 tubulin tyrosine ligase like 9 gene DOID:11612 polycystic ovary syndrome ISO RGD:1345675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12379753 TTLL9 tubulin tyrosine ligase like 9 gene DOID:630 genetic disease ISO RGD:1345675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379753 TTLL9 tubulin tyrosine ligase like 9 gene DOID:9007188 Liver Neoplasms ISO RGD:1345675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12379785 SORCS1 sortilin related VPS10 domain containing receptor 1 gene DOID:0110038 Alzheimer's disease 6 ISO RGD:1314224 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Alzheimer disease 6 PMID:19241460|PMID:21280075|PMID:25741868 12379785 SORCS1 sortilin related VPS10 domain containing receptor 1 gene DOID:10283 prostate cancer ISO RGD:1314224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12379785 SORCS1 sortilin related VPS10 domain containing receptor 1 gene DOID:576 proteinuria ISO RGD:1305910 D RGD:9068941 20200609 RGD associated with hypertension PMID:23780848|REF_RGD_ID:12910977 12379785 SORCS1 sortilin related VPS10 domain containing receptor 1 gene DOID:630 genetic disease ISO RGD:1314224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379815 PSTK phosphoseryl-tRNA kinase gene DOID:2340 craniosynostosis ISO RGD:1350761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 12379815 PSTK phosphoseryl-tRNA kinase gene DOID:630 genetic disease ISO RGD:1350761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379825 SMG7 SMG7 nonsense mediated mRNA decay factor gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1321852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12379825 SMG7 SMG7 nonsense mediated mRNA decay factor gene DOID:1540 parathyroid carcinoma ISO RGD:1321852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12379825 SMG7 SMG7 nonsense mediated mRNA decay factor gene DOID:630 genetic disease ISO RGD:1321852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379825 SMG7 SMG7 nonsense mediated mRNA decay factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12379825 SMG7 SMG7 nonsense mediated mRNA decay factor gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1321852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12379825 SMG7 SMG7 nonsense mediated mRNA decay factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12379856 FOXP4 forkhead box P4 gene DOID:0050444 infantile Refsum disease ISO RGD:1322820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12379856 FOXP4 forkhead box P4 gene DOID:10003 sensorineural hearing loss ISO RGD:1322820 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:28492532 12379856 FOXP4 forkhead box P4 gene DOID:3910 lung adenocarcinoma ISO RGD:1322820 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 12379856 FOXP4 forkhead box P4 gene DOID:6000 congestive heart failure ISO RGD:1322820 D RGD:9068941 20200609 RGD PMID:16952980|REF_RGD_ID:1582564 12379856 FOXP4 forkhead box P4 gene DOID:630 genetic disease ISO RGD:1322820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379856 FOXP4 forkhead box P4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20676098 12379856 FOXP4 forkhead box P4 gene DOID:9008086 Developmental Disabilities ISO RGD:1322820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12379856 FOXP4 forkhead box P4 gene DOID:905 Zellweger syndrome ISO RGD:1322820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12379890 JRK Jrk helix-turn-helix protein gene DOID:1825 childhood absence epilepsy ISO RGD:1314867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11463517 12379890 JRK Jrk helix-turn-helix protein gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:1314867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11463517 12379890 JRK Jrk helix-turn-helix protein gene DOID:630 genetic disease ISO RGD:1314867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379890 JRK Jrk helix-turn-helix protein gene DOID:9001793 Generalized Epilepsy ISO RGD:1314867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11463517 12379903 TTC9C tetratricopeptide repeat domain 9C gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1601809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12379903 TTC9C tetratricopeptide repeat domain 9C gene DOID:1059 intellectual disability ISO RGD:1601809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12379903 TTC9C tetratricopeptide repeat domain 9C gene DOID:630 genetic disease ISO RGD:1601809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379903 TTC9C tetratricopeptide repeat domain 9C gene DOID:9002304 Prostatic Neoplasms ISO RGD:1601809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:0060224 atrial fibrillation ISO RGD:735617 D RGD:9068941 20230330 RGD associated with heart valve disease;protein:increased expression:right atrial myocardium PMID:33236535|REF_RGD_ID:242905189 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:0080205 CAKUT ISO RGD:735617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:28492532|PMID:30692597|PMID:35227688 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:0080745 polymyositis ISO RGD:735617 D RGD:9068941 20230330 RGD mRNA,protein:increased expression:muscle PMID:32213157|REF_RGD_ID:243048425 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:0111797 autosomal recessive congenital nystagmus ISO RGD:735617 D RGD:7240710 20230505 OMIM 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:0111797 autosomal recessive congenital nystagmus ISO RGD:735617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Nystagmus, congenital, autosomal recessive PMID:35348658 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:10223 dermatomyositis ISO RGD:735617 D RGD:9068941 20230330 RGD mRNA,protein:increased expression:muscle PMID:32213157|REF_RGD_ID:243048425 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:10488 imperforate anus ISO RGD:735617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imperforate anus PMID:25741868 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:1059 intellectual disability ISO RGD:735617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28135719|PMID:28600779 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:10591 pre-eclampsia ISO RGD:735617 D RGD:9068941 20230330 RGD mRNA,protein:increased expression:placenta PMID:22262697|REF_RGD_ID:243048428 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:12849 autistic disorder ISO RGD:735617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18270976 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:1324 lung cancer ISO RGD:62234 D RGD:9068941 20220825 MouseDO OMIM:211980 | OMIM:608935 | OMIM:612571 | OMIM:612593 | OMIM:614210 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:14766 renal agenesis ISO RGD:735617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral renal agenesis PMID:25741868|PMID:29194579 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:1657 ventricular septal defect ISO RGD:62234 D RGD:9068941 20230330 RGD PMID:25691540|REF_RGD_ID:243048427 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:1682 congenital heart disease ISO RGD:735617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:26489027|PMID:27854360|PMID:28286008|PMID:28492532|PMID:30712880 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:224 transient cerebral ischemia ISO RGD:61941 D RGD:9068941 20230330 RGD protein:increased expression:brain, astrocyte PMID:27686659|REF_RGD_ID:243048429 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:224 transient cerebral ischemia ISO RGD:61941 D RGD:9068941 20230330 RGD protein:increased expression:hippocampus PMID:26764532|REF_RGD_ID:11573340 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:224 transient cerebral ischemia disease_progression ISO RGD:62234 D RGD:9068941 20230330 RGD PMID:23473743|REF_RGD_ID:243048431 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:2975 cystic kidney disease ISO RGD:62234 D RGD:9068941 20220825 MouseDO 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:299 adenocarcinoma ISO RGD:735617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17671114 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:3721 plasmacytoma ameliorates ISO RGD:735617 D RGD:9068941 20230330 RGD PMID:34268498|REF_RGD_ID:243048419 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:61941 D RGD:9068941 20200609 RGD mRNA:altered expression:lung PMID:15264215|REF_RGD_ID:2314868 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:630 genetic disease ISO RGD:735617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:6419 tetralogy of Fallot ISO RGD:735617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:25741868|PMID:28592524 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:8947 diabetic retinopathy ISO RGD:61941 D RGD:9068941 20230330 RGD mRNA,protein:increased expression:retina PMID:28973045|REF_RGD_ID:243048421 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:61941 D RGD:9068941 20230401 RGD mRNA,protein:increased expression:spinal cord: PMID:27893610|REF_RGD_ID:243048440 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:9000998 Brain Injuries ISO RGD:61941 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:16262652|REF_RGD_ID:2316136 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:9000998 Brain Injuries ISO RGD:61941 D RGD:9068941 20230401 RGD protein:increased expression:brain, immune cell PMID:26550694|REF_RGD_ID:243048437 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:9003086 Congenital Nystagmus 8 ISO RGD:735617 D RGD:7240710 20230505 OMIM 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:9003139 Cardiac Fibrosis ameliorates ISO RGD:62234 D RGD:9068941 20230330 RGD PMID:33236535|REF_RGD_ID:242905189 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:9003676 Brain Hypoxia-Ischemia exacerbates ISO RGD:61941 D RGD:9068941 20230330 RGD PMID:31356825|REF_RGD_ID:242905191 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:735617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868|PMID:28402530|PMID:30530901|PMID:31448886 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:735617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17671114 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:9005178 Combined Pituitary Hormone Deficiency 8 ISO RGD:735617 D RGD:7240710 20230505 OMIM 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:9005178 Combined Pituitary Hormone Deficiency 8 ISO RGD:735617 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined or isolated, 8 PMID:25741868|PMID:28402530|PMID:31448886 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:61941 D RGD:9068941 20230401 RGD mRNA:increased expression:carotid artery PMID:26841069|REF_RGD_ID:243048443 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:9007661 Dwarfism ISO RGD:735617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25410734 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:9008104 Cancer Pain exacerbates ISO RGD:61941 D RGD:9068941 20230401 RGD PMID:26738857|REF_RGD_ID:243048441 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:9538 multiple myeloma ameliorates ISO RGD:735617 D RGD:9068941 20230330 RGD PMID:34268498|REF_RGD_ID:243048419 12379919 ROBO1 roundabout guidance receptor 1 gene DOID:9649 congenital nystagmus ISO RGD:735617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital nystagmus PMID:25741868|PMID:28492532 12379977 KCNAB3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1350747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12379977 KCNAB3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 gene DOID:12177 common variable immunodeficiency ISO RGD:1350747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12379977 KCNAB3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1350747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12379977 KCNAB3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1350747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12379977 KCNAB3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1350747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12379977 KCNAB3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 gene DOID:630 genetic disease ISO RGD:1350747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12379999 EME2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1344240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 12379999 EME2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1344240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12379999 EME2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:0111492 combined oxidative phosphorylation deficiency 32 ISO RGD:1344240 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 32 PMID:25741868|PMID:28492532|PMID:28777931|PMID:35326425 12379999 EME2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:1826 epilepsy ISO RGD:1344240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12379999 EME2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12379999 EME2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:3652 Leigh disease ISO RGD:1344240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:28777931 12379999 EME2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:630 genetic disease ISO RGD:1344240 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12380008 ACOT6 acyl-CoA thioesterase 6 gene DOID:1059 intellectual disability ISO RGD:1605747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12380008 ACOT6 acyl-CoA thioesterase 6 gene DOID:5419 schizophrenia ISO RGD:1605747 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12380008 ACOT6 acyl-CoA thioesterase 6 gene DOID:630 genetic disease ISO RGD:1605747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12380019 CALY calcyon neuron specific vesicular protein gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1601759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12380019 CALY calcyon neuron specific vesicular protein gene DOID:10825 essential hypertension ISO RGD:1601759 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:30753204 12380019 CALY calcyon neuron specific vesicular protein gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1601759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30753204 12380019 CALY calcyon neuron specific vesicular protein gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1601759 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :rs4838721, rs2275723 (human) PMID:16172615|REF_RGD_ID:15092091 12380019 CALY calcyon neuron specific vesicular protein gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:621719 D RGD:9068941 20200609 RGD PMID:19690230|REF_RGD_ID:15092092 12380019 CALY calcyon neuron specific vesicular protein gene DOID:5419 schizophrenia ISO RGD:1601759 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:16786528|REF_RGD_ID:15097510 12380019 CALY calcyon neuron specific vesicular protein gene DOID:5419 schizophrenia ISO RGD:1601759 D RGD:9068941 20200609 RGD protein:increased expression:prefrontal cortex PMID:12622665|REF_RGD_ID:15092089 12380019 CALY calcyon neuron specific vesicular protein gene DOID:630 genetic disease ISO RGD:1601759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12380019 CALY calcyon neuron specific vesicular protein gene DOID:9006205 Animal Disease Models ISO RGD:1601759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30753204 12380019 CALY calcyon neuron specific vesicular protein gene DOID:9008023 Memory Disorders ISO RGD:1601759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30753204 12380036 SLC22A31 solute carrier family 22 member 31 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:5135309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12380036 SLC22A31 solute carrier family 22 member 31 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:5135309 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12380036 SLC22A31 solute carrier family 22 member 31 gene DOID:14780 KBG syndrome ISO RGD:5135309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316|PMID:31690835 12380036 SLC22A31 solute carrier family 22 member 31 gene DOID:630 genetic disease ISO RGD:5135309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12380036 SLC22A31 solute carrier family 22 member 31 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:5135309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12380050 GTF2F2 general transcription factor IIF subunit 2 gene DOID:630 genetic disease ISO RGD:733447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12380062 EMCN endomucin gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:1602001 D RGD:9068941 20220310 RGD PMID:32626543|REF_RGD_ID:151665104 12380062 EMCN endomucin gene DOID:630 genetic disease ISO RGD:1602001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12380078 CEPT1 choline/ethanolamine phosphotransferase 1 gene DOID:12849 autistic disorder ISO RGD:1345389 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12380078 CEPT1 choline/ethanolamine phosphotransferase 1 gene DOID:630 genetic disease ISO RGD:1345389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12380097 CEP20 centrosomal protein 20 gene DOID:12849 autistic disorder ISO RGD:1606173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12380097 CEP20 centrosomal protein 20 gene DOID:1826 epilepsy ISO RGD:1606173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12380097 CEP20 centrosomal protein 20 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:1606173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum PMID:11439001|PMID:16541094 12380097 CEP20 centrosomal protein 20 gene DOID:5419 schizophrenia ISO RGD:1606173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12380097 CEP20 centrosomal protein 20 gene DOID:8445 intestinal volvulus ISO RGD:1606173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12380097 CEP20 centrosomal protein 20 gene DOID:9000664 Familial Thoracic Aortic Aneurysm 4 ISO RGD:1606173 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:22318994|PMID:27884122|PMID:28492532|PMID:29179725 12380097 CEP20 centrosomal protein 20 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:1606173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:24581741|PMID:26601923|PMID:28492532|PMID:30554721 12380097 CEP20 centrosomal protein 20 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1606173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12380203 GNRHR gonadotropin releasing hormone receptor gene DOID:0060643 primary sclerosing cholangitis ISO RGD:737339 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:28502477|REF_RGD_ID:14928320 12380203 GNRHR gonadotropin releasing hormone receptor gene DOID:0080454 developmental and epileptic encephalopathy 42 ISO RGD:737339 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42 PMID:11297587|PMID:12107234|PMID:12890567|PMID:19449676|PMID:22035731|PMID:25741868|PMID:28492532 12380203 GNRHR gonadotropin releasing hormone receptor gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:737339 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:10022417|PMID:10084584|PMID:10690855|PMID:12574221|PMID:16968799|PMID:22724017|PMID:22745237|PMID:24732674|PMID:25741868|PMID:26207952|PMID:28492532|PMID:28611058|PMID:29182666|PMID:32870266|PMID:33223529|PMID:9371856|PMID:9425890 12380203 GNRHR gonadotropin releasing hormone receptor gene DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia ISO RGD:737339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated GnRH Deficiency PMID:11397871|PMID:12364481|PMID:12606630|PMID:15240592|PMID:15728205|PMID:16213849|PMID:17161329|PMID:20389088|PMID:20696889|PMID:22745237|PMID:22766261|PMID:23295295|PMID:23341491|PMID:23643382|PMID:25016926|PMID:28492532|PMID:9371856 12380203 GNRHR gonadotropin releasing hormone receptor gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:737339 D RGD:7240710 20180130 OMIM 12380203 GNRHR gonadotropin releasing hormone receptor gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:737339 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia | ClinVar Annotator: match by term: Isolated congenital hypogonadotropic hypogonadism PMID:10022417|PMID:10084584|PMID:10523035|PMID:10690855|PMID:10772899|PMID:10999776|PMID:11318785|PMID:11397842|PMID:11397871|PMID:11994356|PMID:12050282|PMID:12057744|PMID:12107234|PMID:12364481|PMID:12477532|PMID:12568864|PMID:12574221|PMID:12606630|PMID:12679486|PMID:15240592|PMID:15728205|PMID:16213849|PMID:16359986|PMID:16968799|PMID:17235395|PMID:20389088|PMID:20696889|PMID:21645587|PMID:21736917|PMID:22031817|PMID:22405597|PMID:22679506|PMID:22724017|PMID:22745237|PMID:22766261|PMID:22918878|PMID:23155690|PMID:23295295|PMID:23341491|PMID:23643382|PMID:23650335|PMID:24033266|PMID:24732674|PMID:25016926|PMID:25636053|PMID:25741868|PMID:26207952|PMID:26467025|PMID:26708526|PMID:27094476|PMID:27544332|PMID:27884859|PMID:28492532|PMID:28611058|PMID:29182666|PMID:30415482|PMID:30476149|PMID:32870266|PMID:33223529|PMID:7557974|PMID:9371856|PMID:9425890 12380203 GNRHR gonadotropin releasing hormone receptor gene DOID:13938 amenorrhea ISO RGD:737339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:10022417|PMID:10084584|PMID:10523035|PMID:10690855|PMID:12574221|PMID:16968799|PMID:22724017|PMID:22745237|PMID:24732674|PMID:25741868|PMID:26207952|PMID:28492532|PMID:28611058|PMID:29182666|PMID:32870266|PMID:33223529|PMID:9371856|PMID:9425890 12380203 GNRHR gonadotropin releasing hormone receptor gene DOID:1921 Klinefelter syndrome ISO RGD:737339 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:10022417|PMID:10084584|PMID:10690855|PMID:12574221|PMID:16968799|PMID:22724017|PMID:22745237|PMID:24732674|PMID:25741868|PMID:26207952|PMID:28492532|PMID:28611058|PMID:29182666|PMID:32870266|PMID:33223529|PMID:9371856|PMID:9425890 12380203 GNRHR gonadotropin releasing hormone receptor gene DOID:1924 hypogonadism ISO RGD:737339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15625238 12380203 GNRHR gonadotropin releasing hormone receptor gene DOID:5223 infertility ISO RGD:737339 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Infertility PMID:10022417|PMID:10690855|PMID:10999776|PMID:11397842|PMID:11397871|PMID:12057744|PMID:12364481|PMID:12574221|PMID:12679486|PMID:15728205|PMID:17235395|PMID:20389088|PMID:20696889|PMID:21645587|PMID:22745237|PMID:23155690|PMID:23643382|PMID:23650335|PMID:24033266|PMID:25016926|PMID:25741868|PMID:26207952|PMID:28492532|PMID:29182666|PMID:30476149|PMID:33223529|PMID:7557974|PMID:9371856 12380203 GNRHR gonadotropin releasing hormone receptor gene DOID:630 genetic disease ISO RGD:737339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12380203 GNRHR gonadotropin releasing hormone receptor gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:737339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19131502 12380203 GNRHR gonadotropin releasing hormone receptor gene DOID:9001239 Delayed Puberty ISO RGD:737339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:25636053 12380203 GNRHR gonadotropin releasing hormone receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12380208 DST dystonin gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1315255 D RGD:9068941 20220825 MouseDO 12380208 DST dystonin gene DOID:0050700 cardiomyopathy ISO RGD:1605439 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 12380208 DST dystonin gene DOID:0060041 autism spectrum disorder ISO RGD:1605439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12380208 DST dystonin gene DOID:0070151 hereditary sensory and autonomic neuropathy type 6 ISO RGD:1605439 D RGD:7240710 20180130 OMIM 12380208 DST dystonin gene DOID:0070151 hereditary sensory and autonomic neuropathy type 6 ISO RGD:1605439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 6 | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type VI PMID:16199547|PMID:17576681|PMID:20164846|PMID:22522446|PMID:24033266|PMID:25059916|PMID:25741868|PMID:25790160|PMID:28468842|PMID:28492532|PMID:28558912|PMID:30371979|PMID:31474762|PMID:32802955|PMID:33471381|PMID:9536098 12380208 DST dystonin gene DOID:10485 esophageal atresia ISO RGD:1605439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12380208 DST dystonin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1605439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:28492532 12380208 DST dystonin gene DOID:12377 spinal muscular atrophy ISO RGD:1605439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:16199547|PMID:25059916|PMID:28492532 12380208 DST dystonin gene DOID:630 genetic disease ISO RGD:1605439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:17849487|PMID:22522446|PMID:23056405|PMID:25059916|PMID:25741868|PMID:25790160|PMID:27698030|PMID:28492532|PMID:30371979|PMID:31474762|PMID:32802955|PMID:7670468|PMID:9536098 12380208 DST dystonin gene DOID:9001248 Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with BP230 Deficiency ISO RGD:1605439 D RGD:7240710 20180130 OMIM 12380208 DST dystonin gene DOID:9001248 Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with BP230 Deficiency ISO RGD:1605439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive 2 PMID:20164846|PMID:22113475|PMID:22522446|PMID:24033266|PMID:25059916|PMID:25741868|PMID:28492532|PMID:30371979|PMID:31474762|PMID:33471381 12380208 DST dystonin gene DOID:9006519 Generalized Epidermolysis Bullosa Simplex 1D ISO RGD:1605439 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12380348 PSENEN presenilin enhancer, gamma-secretase subunit gene DOID:0110222 Brugada syndrome 5 ISO RGD:1347919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12380348 PSENEN presenilin enhancer, gamma-secretase subunit gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1347919 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12380348 PSENEN presenilin enhancer, gamma-secretase subunit gene DOID:543 dystonia ISO RGD:1347919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12380348 PSENEN presenilin enhancer, gamma-secretase subunit gene DOID:630 genetic disease ISO RGD:1347919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12380348 PSENEN presenilin enhancer, gamma-secretase subunit gene DOID:9001644 Familial Acne Inversa 2 ISO RGD:1347919 D RGD:7240710 20210721 OMIM 12380348 PSENEN presenilin enhancer, gamma-secretase subunit gene DOID:9001644 Familial Acne Inversa 2 ISO RGD:1347919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acne inversa, familial, 2 PMID:20929727|PMID:21412258|PMID:25741868|PMID:27900998|PMID:28287404|PMID:28492532|PMID:28601418 12380348 PSENEN presenilin enhancer, gamma-secretase subunit gene DOID:9008895 Familial Hidradenitis Suppurativa ISO RGD:1347919 D RGD:9068941 20210723 CTD CTD Direct Evidence: marker/mechanism PMID:20929727 12380356 CBFA2T2 CBFA2/RUNX1 partner transcriptional co-repressor 2 gene DOID:2843 long QT syndrome ISO RGD:1319231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12380356 CBFA2T2 CBFA2/RUNX1 partner transcriptional co-repressor 2 gene DOID:630 genetic disease ISO RGD:1319231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12380394 DNTTIP1 deoxynucleotidyltransferase terminal interacting protein 1 gene DOID:2234 focal epilepsy ISO RGD:1322651 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12380394 DNTTIP1 deoxynucleotidyltransferase terminal interacting protein 1 gene DOID:630 genetic disease ISO RGD:1322651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12380394 DNTTIP1 deoxynucleotidyltransferase terminal interacting protein 1 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1322651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12380414 SLC49A4 solute carrier family 49 member 4 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1322124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12380414 SLC49A4 solute carrier family 49 member 4 gene DOID:2394 ovarian cancer ISO RGD:1322124 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 12380414 SLC49A4 solute carrier family 49 member 4 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:1322124 D RGD:9068941 20200609 RGD DNA:translocation:intron:t(2;3)(q35;q21) PMID:11912179|REF_RGD_ID:1601072 12380414 SLC49A4 solute carrier family 49 member 4 gene DOID:630 genetic disease ISO RGD:1322124 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12380414 SLC49A4 solute carrier family 49 member 4 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1322124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12380414 SLC49A4 solute carrier family 49 member 4 gene DOID:9270 alkaptonuria ISO RGD:1322124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12380456 JOSD1 Josephin domain containing 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1604837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12380456 JOSD1 Josephin domain containing 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1604837 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12380456 JOSD1 Josephin domain containing 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1604837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12380456 JOSD1 Josephin domain containing 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1604837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12380456 JOSD1 Josephin domain containing 1 gene DOID:630 genetic disease ISO RGD:1604837 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12380465 GLDC glycine decarboxylase gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1318561 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12380465 GLDC glycine decarboxylase gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1318561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:25741868|PMID:27799067|PMID:28492532 12380465 GLDC glycine decarboxylase gene DOID:0080074 neural tube defect ISO RGD:1623050 D RGD:9068941 20200609 RGD PMID:25736695|REF_RGD_ID:12904662 12380465 GLDC glycine decarboxylase gene DOID:0080600 COVID-19 ISO RGD:1318561 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12380465 GLDC glycine decarboxylase gene DOID:0090056 dystonia 12 ISO RGD:1318561 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dystonia 12 PMID:25741868|PMID:27799067|PMID:28492532 12380465 GLDC glycine decarboxylase gene DOID:10534 stomach cancer ISO RGD:1318561 D RGD:9068941 20200609 RGD mRNA:decreased expression:stomach: PMID:26722042|REF_RGD_ID:12904663 12380465 GLDC glycine decarboxylase gene DOID:10908 hydrocephalus ISO RGD:1623050 D RGD:9068941 20200609 RGD PMID:25736695|REF_RGD_ID:12904662 12380465 GLDC glycine decarboxylase gene DOID:630 genetic disease ISO RGD:1318561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16601880|PMID:16802295|PMID:17576681|PMID:25741868|PMID:26179960|PMID:26467025|PMID:27362913|PMID:27799067|PMID:28244183|PMID:28492532|PMID:29205322|PMID:29988937|PMID:32421718|PMID:32743799|PMID:33524012|PMID:9536098 12380465 GLDC glycine decarboxylase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12380465 GLDC glycine decarboxylase gene DOID:9268 glycine encephalopathy ISO RGD:1318561 D RGD:7240710 20180130 OMIM 12380465 GLDC glycine decarboxylase gene DOID:9268 glycine encephalopathy ISO RGD:1318561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:10798358|PMID:10873393|PMID:11286506|PMID:11592811|PMID:12126939|PMID:12402263|PMID:15192636|PMID:15236413|PMID:15272469|PMID:15670722|PMID:15791207|PMID:15824356|PMID:15851735|PMID:15864413|PMID:16199547|PMID:1634607|PMID:16404748|PMID:16450403|PMID:16601880|PMID:16802295|PMID:17074608|PMID:17361008|PMID:17576681|PMID:18581728|PMID:1996985|PMID:20301531|PMID:20691948|PMID:20933183|PMID:21411353|PMID:22171071|PMID:22206881|PMID:22532538|PMID:22633639|PMID:23349517|PMID:24033266|PMID:24123366|PMID:24407464|PMID:25231368|PMID:25326637|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26179960|PMID:26467025|PMID:26539891|PMID:26749113|PMID:26947380|PMID:26969502|PMID:27362813|PMID:27362913|PMID:273629130|PMID:27535533|PMID:27617160|PMID:27799067|PMID:27884173|PMID:27896094|PMID:28116331|PMID:28244183|PMID:28302194|PMID:28416785|PMID:28468868|PMID:28492532|PMID:28737873|PMID:29046206|PMID:29153744|PMID:29205322|PMID:29232014|PMID:29239742|PMID:29988937|PMID:30609409|PMID:31028937|PMID:31319225|PMID:31785789|PMID:32421718|PMID:32593896|PMID:32743799|PMID:33502061|PMID:33524012|PMID:33977025|PMID:34513771|PMID:445864|PMID:660|PMID:9536098 12380465 GLDC glycine decarboxylase gene DOID:9970 obesity ISO RGD:1318561 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Obesity PMID:10873393|PMID:11286506|PMID:12126939|PMID:15670722|PMID:15791207|PMID:17361008|PMID:20301531|PMID:25741868|PMID:26179960|PMID:27362913|PMID:28492532 12380522 HDAC9 histone deacetylase 9 gene DOID:3525 middle cerebral artery infarction ISO RGD:1310748 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:23480850|REF_RGD_ID:9681449 12380522 HDAC9 histone deacetylase 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12380522 HDAC9 histone deacetylase 9 gene DOID:630 genetic disease ISO RGD:1353912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12380522 HDAC9 histone deacetylase 9 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1353912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 12380522 HDAC9 histone deacetylase 9 gene DOID:9007096 Stroke ISO RGD:1353912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22306652 12380571 PRX periaxin gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1351983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:15197604|PMID:15469949|PMID:16770524|PMID:22847150|PMID:25614874|PMID:26059842|PMID:28492532 12380571 PRX periaxin gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:1351983 D RGD:7240710 20180425 OMIM 12380571 PRX periaxin gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:1351983 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome | ClinVar Annotator: match by term: Dejerine-Sottas disease PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16770524|PMID:20301641|PMID:21079185|PMID:22847150|PMID:24033266|PMID:24078732|PMID:25326635|PMID:25628743|PMID:25741868|PMID:26059842|PMID:26467025|PMID:28492532|PMID:31673878|PMID:32376792 12380571 PRX periaxin gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1351983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16199547|PMID:16770524|PMID:17576681|PMID:18410371|PMID:19837996|PMID:21079185|PMID:21741241|PMID:21840889|PMID:22847150|PMID:24011642|PMID:24078732|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25628743|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:27104957|PMID:27862672|PMID:28492532|PMID:28708278|PMID:28902413|PMID:29858556|PMID:30724636|PMID:31372974|PMID:31523542|PMID:31673878|PMID:9536098 12380571 PRX periaxin gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1351983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16199547|PMID:16770524|PMID:17576681|PMID:18410371|PMID:19837996|PMID:20301641|PMID:21079185|PMID:21741241|PMID:21840889|PMID:22847150|PMID:23056405|PMID:24011642|PMID:24033266|PMID:24078732|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25628743|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:27104957|PMID:27862672|PMID:28492532|PMID:28708278|PMID:28902413|PMID:29623298|PMID:29858556|PMID:30724636|PMID:31372974|PMID:31523542|PMID:31673878|PMID:32376792|PMID:32460404|PMID:32665875|PMID:9536098 12380571 PRX periaxin gene DOID:0080288 spinocerebellar ataxia 46 ISO RGD:1351983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 46 PMID:15197604|PMID:15469949|PMID:16770524|PMID:22847150|PMID:24011642|PMID:25741868|PMID:26059842|PMID:28492532|PMID:32376792 12380571 PRX periaxin gene DOID:0110193 Charcot-Marie-Tooth disease type 4F ISO RGD:1351983 D RGD:7240710 20180130 OMIM 12380571 PRX periaxin gene DOID:0110193 Charcot-Marie-Tooth disease type 4F ISO RGD:1351983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 4F PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16534116|PMID:16770524|PMID:18504680|PMID:19837996|PMID:20301641|PMID:21079185|PMID:21840889|PMID:22847150|PMID:24011642|PMID:24033266|PMID:24078732|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:27104957|PMID:28492532|PMID:29623298|PMID:31372974|PMID:31523542|PMID:31673878|PMID:32214227|PMID:32376792 12380571 PRX periaxin gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1351983 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12380571 PRX periaxin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1351983 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16534116|PMID:16770524|PMID:18410371|PMID:18504680|PMID:19837996|PMID:20301641|PMID:21079185|PMID:21326314|PMID:21741241|PMID:21840889|PMID:22847150|PMID:24011642|PMID:24078732|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25044680|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:28492532|PMID:30724636|PMID:31523542|PMID:32376792 12380571 PRX periaxin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1351983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16534116|PMID:16770524|PMID:18410371|PMID:18504680|PMID:19837996|PMID:20301641|PMID:21079185|PMID:21326314|PMID:21741241|PMID:21840889|PMID:22847150|PMID:23056405|PMID:24011642|PMID:24078732|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25044680|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:28492532|PMID:29623298|PMID:30724636|PMID:31523542|PMID:32376792|PMID:32460404 12380571 PRX periaxin gene DOID:12377 spinal muscular atrophy ISO RGD:1351983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:28492532 12380571 PRX periaxin gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1351983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12380571 PRX periaxin gene DOID:1342 congenital hypoplastic anemia ISO RGD:1351983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12380571 PRX periaxin gene DOID:2340 craniosynostosis ISO RGD:1351983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12380571 PRX periaxin gene DOID:2477 motor peripheral neuropathy ISO RGD:1351983 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12380571 PRX periaxin gene DOID:574 peripheral nervous system disease ISO RGD:1351983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:11133365|PMID:15197604|PMID:15469949|PMID:16770524|PMID:21741241|PMID:22847150|PMID:25741868|PMID:26059842|PMID:28492532|PMID:30724636|PMID:31673878 12380571 PRX periaxin gene DOID:630 genetic disease ISO RGD:1351983 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11133365|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16770524|PMID:19837996|PMID:20301641|PMID:21840889|PMID:22847150|PMID:23056405|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25164601|PMID:25188385|PMID:25614874|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:27104957|PMID:28492532|PMID:29623298|PMID:31523542|PMID:31673878|PMID:32376792|PMID:32665875 12380571 PRX periaxin gene DOID:83 cataract ISO RGD:1351983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 12380571 PRX periaxin gene DOID:870 neuropathy ISO RGD:1351983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:11133365|PMID:15197604|PMID:15469949|PMID:16770524|PMID:21741241|PMID:22847150|PMID:25741868|PMID:26059842|PMID:28492532|PMID:30724636|PMID:31673878 12380571 PRX periaxin gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1351983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12380571 PRX periaxin gene DOID:9269 maple syrup urine disease ISO RGD:1351983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12380571 PRX periaxin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351983 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12380582 CPA3 carboxypeptidase A3 gene DOID:0050579 glycogen storage disease XV ISO RGD:733833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 12380582 CPA3 carboxypeptidase A3 gene DOID:0080600 COVID-19 ISO RGD:733833 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12380582 CPA3 carboxypeptidase A3 gene DOID:630 genetic disease ISO RGD:733833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12380597 GATA4 GATA binding protein 4 gene DOID:0050651 atrioventricular septal defect ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12380597 GATA4 GATA binding protein 4 gene DOID:0060224 atrial fibrillation ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12380597 GATA4 GATA binding protein 4 gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:737140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transposition of the great arteries PMID:12845333|PMID:25741868 12380597 GATA4 GATA binding protein 4 gene DOID:0110107 atrial heart septal defect 2 ISO RGD:737140 D RGD:7240710 20180130 OMIM 12380597 GATA4 GATA binding protein 4 gene DOID:0110107 atrial heart septal defect 2 ISO RGD:737140 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Atrial septal defect 2 PMID:12845333|PMID:15810002|PMID:15863664|PMID:17548362|PMID:17576681|PMID:17643447|PMID:18055909|PMID:18076106|PMID:18672102|PMID:19302747|PMID:19678963|PMID:20347099|PMID:20659440|PMID:20854389|PMID:20874241|PMID:20981092|PMID:21110066|PMID:21519287|PMID:21637475|PMID:23138528|PMID:23626780|PMID:23696316|PMID:24033266|PMID:25741868|PMID:26490186|PMID:26997702|PMID:27374936|PMID:27391137|PMID:27535533|PMID:28132688|PMID:28492532|PMID:29377543|PMID:32719394|PMID:32748548|PMID:32992319|PMID:9536098 12380597 GATA4 GATA binding protein 4 gene DOID:0111101 maturity-onset diabetes of the young type 5 ISO RGD:737140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cysts and diabetes syndrome PMID:25741868|PMID:28492532 12380597 GATA4 GATA binding protein 4 gene DOID:0111772 46,XY sex reversal 3 ISO RGD:737140 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED PMID:17643447|PMID:18672102|PMID:19302747|PMID:19678963|PMID:21110066|PMID:21519287|PMID:22011241|PMID:24033266|PMID:25741868|PMID:26014430|PMID:26490186|PMID:26997702|PMID:27899157|PMID:28492532|PMID:29368431|PMID:32992319 12380597 GATA4 GATA binding protein 4 gene DOID:1059 intellectual disability ISO RGD:737140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12380597 GATA4 GATA binding protein 4 gene DOID:10907 microcephaly ISO RGD:737140 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:18672102|PMID:19302747|PMID:19678963|PMID:21110066|PMID:21519287|PMID:24033266|PMID:25741868|PMID:26490186|PMID:26997702|PMID:28492532|PMID:32992319 12380597 GATA4 GATA binding protein 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:737140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18076106|PMID:20874241|PMID:24033266|PMID:25741868|PMID:27374936|PMID:28492532 12380597 GATA4 GATA binding protein 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532|PMID:32748548 12380597 GATA4 GATA binding protein 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737140 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:25741868|PMID:28492532|PMID:32748548 12380597 GATA4 GATA binding protein 4 gene DOID:1574 alcohol use disorder ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20585342 12380597 GATA4 GATA binding protein 4 gene DOID:1657 ventricular septal defect ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12380597 GATA4 GATA binding protein 4 gene DOID:1682 congenital heart disease ISO RGD:737140 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital heart disease PMID:18055909|PMID:20347099|PMID:20981092|PMID:24000169|PMID:25741868|PMID:27426723|PMID:27535533|PMID:28492532|PMID:30152191|PMID:33116287 12380597 GATA4 GATA binding protein 4 gene DOID:1882 atrial heart septal defect ISO RGD:737140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868|PMID:28492532|PMID:30755392 12380597 GATA4 GATA binding protein 4 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23426975 12380597 GATA4 GATA binding protein 4 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:737141 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 12380597 GATA4 GATA binding protein 4 gene DOID:5844 myocardial infarction ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20200331 12380597 GATA4 GATA binding protein 4 gene DOID:5844 myocardial infarction treatment ISO RGD:2665 D RGD:9068941 20200609 RGD PMID:23948075|REF_RGD_ID:7327215 12380597 GATA4 GATA binding protein 4 gene DOID:630 genetic disease ISO RGD:737140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18055909|PMID:20981092|PMID:25741868|PMID:27535533|PMID:28492532|PMID:28798025 12380597 GATA4 GATA binding protein 4 gene DOID:6419 tetralogy of Fallot ISO RGD:737140 D RGD:7240710 20180130 OMIM 12380597 GATA4 GATA binding protein 4 gene DOID:6419 tetralogy of Fallot ISO RGD:737140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot PMID:17643447|PMID:18055909|PMID:18076106|PMID:18672102|PMID:19302747|PMID:19678963|PMID:20347099|PMID:20874241|PMID:20981092|PMID:21110066|PMID:21519287|PMID:23626780|PMID:24000169|PMID:24033266|PMID:25741868|PMID:26490186|PMID:26997702|PMID:27139165|PMID:27374936|PMID:27535533|PMID:28161810|PMID:28471988|PMID:28492532|PMID:29670578|PMID:30152191|PMID:31513339|PMID:32748548|PMID:32992319 12380597 GATA4 GATA binding protein 4 gene DOID:6420 pulmonary valve stenosis ISO RGD:737140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:18055909|PMID:20981092|PMID:25741868|PMID:27535533|PMID:28492532 12380597 GATA4 GATA binding protein 4 gene DOID:6432 pulmonary hypertension ISO RGD:2665 D RGD:9068941 20200609 RGD protein:increased expression:heart right ventricle PMID:21059997|REF_RGD_ID:7207053 12380597 GATA4 GATA binding protein 4 gene DOID:9003936 Cardiomegaly ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16259952|PMID:18252717 12380597 GATA4 GATA binding protein 4 gene DOID:9003959 Ventricular Septal Defect 1 ISO RGD:737140 D RGD:7240710 20180130 OMIM 12380597 GATA4 GATA binding protein 4 gene DOID:9003959 Ventricular Septal Defect 1 ISO RGD:737140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular septal defect 1 PMID:17643447|PMID:18076106|PMID:18672102|PMID:19302747|PMID:19678963|PMID:20347099|PMID:20874241|PMID:21110066|PMID:21519287|PMID:21631294|PMID:21637914|PMID:22101736|PMID:23626780|PMID:24033266|PMID:25741868|PMID:26490186|PMID:26997702|PMID:27139165|PMID:27374936|PMID:28161810|PMID:28471988|PMID:28492532|PMID:29377543|PMID:29670578|PMID:31513339|PMID:32748548|PMID:32992319 12380597 GATA4 GATA binding protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12380597 GATA4 GATA binding protein 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2665 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:heart PMID:22293779|REF_RGD_ID:7207042 12380597 GATA4 GATA binding protein 4 gene DOID:9006205 Animal Disease Models ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12380597 GATA4 GATA binding protein 4 gene DOID:9006760 Testicular Anomalies with or without Congenital Heart Disease ISO RGD:737140 D RGD:7240710 20180130 OMIM 12380597 GATA4 GATA binding protein 4 gene DOID:9006760 Testicular Anomalies with or without Congenital Heart Disease ISO RGD:737140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Testicular anomalies with or without congenital heart disease PMID:15863664|PMID:17576681|PMID:17643447|PMID:18672102|PMID:19302747|PMID:19678963|PMID:20347099|PMID:20874241|PMID:21110066|PMID:21220346|PMID:21519287|PMID:23138528|PMID:23626780|PMID:23696316|PMID:24033266|PMID:25741868|PMID:26490186|PMID:26997702|PMID:27139165|PMID:27899157|PMID:28161810|PMID:28471988|PMID:28492532|PMID:29670578|PMID:29735817|PMID:30455927|PMID:31513339|PMID:32719394|PMID:32748548|PMID:32992319|PMID:9536098 12380597 GATA4 GATA binding protein 4 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737140 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31190750 12380597 GATA4 GATA binding protein 4 gene DOID:9007174 Ventricular Remodeling ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12380597 GATA4 GATA binding protein 4 gene DOID:9007396 Atrioventricular Septal Defect 4 ISO RGD:737140 D RGD:7240710 20180130 OMIM 12380597 GATA4 GATA binding protein 4 gene DOID:9007396 Atrioventricular Septal Defect 4 ISO RGD:737140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect 4 PMID:12845333|PMID:12939651|PMID:15235040|PMID:15863664|PMID:16199547|PMID:17352393|PMID:17576681|PMID:17592645|PMID:17643447|PMID:18055909|PMID:18076106|PMID:18672102|PMID:19302747|PMID:19353638|PMID:19678963|PMID:19915893|PMID:20347099|PMID:20450724|PMID:20659440|PMID:20854389|PMID:20874241|PMID:20981092|PMID:21055141|PMID:21110066|PMID:21220346|PMID:21276881|PMID:21373748|PMID:21519287|PMID:21631294|PMID:21637475|PMID:21834050|PMID:21933911|PMID:22011241|PMID:22318994|PMID:22498567|PMID:22648249|PMID:23138528|PMID:23239632|PMID:23626780|PMID:23696316|PMID:24033266|PMID:24127225|PMID:24696446|PMID:25205790|PMID:25516202|PMID:25741868|PMID:26014430|PMID:26490186|PMID:26997702|PMID:27139165|PMID:27374936|PMID:27391137|PMID:27418595|PMID:27426723|PMID:27535533|PMID:27810688|PMID:27899157|PMID:28132688|PMID:28161810|PMID:28471988|PMID:28492532|PMID:28798025|PMID:29368431|PMID:29377543|PMID:29670578|PMID:29735817|PMID:30152191|PMID:30293987|PMID:30455927|PMID:30755392|PMID:31322791|PMID:31513339|PMID:32719394|PMID:32748548|PMID:32901917|PMID:32992319|PMID:33865372|PMID:35063694|PMID:9536098 12380597 GATA4 GATA binding protein 4 gene DOID:9008217 Hemorrhage ISO RGD:737140 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31190750 12380597 GATA4 GATA binding protein 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19509152 12380597 GATA4 GATA binding protein 4 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18280291 12380597 GATA4 GATA binding protein 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737140 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus PMID:20854389|PMID:24033266|PMID:24696446|PMID:25741868|PMID:27810688|PMID:28492532|PMID:33865372 12380628 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:0050700 cardiomyopathy ISO RGD:2721 D RGD:9068941 20200609 RGD mRNA:decreased expression:myocardium (rat) PMID:20733562|REF_RGD_ID:13504856 12380628 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:10675 D RGD:9068941 20200609 RGD PMID:21361730|REF_RGD_ID:13504855 12380628 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2721 D RGD:9068941 20200609 RGD PMID:20145654|REF_RGD_ID:13504854 12380628 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:735827 D RGD:9068941 20200609 RGD human protein in a rat model PMID:24407245|REF_RGD_ID:13504852 12380628 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:735827 D RGD:9068941 20200609 RGD human protein in a rat model PMID:26113413|REF_RGD_ID:13506239 12380628 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:3498 pancreatic ductal adenocarcinoma treatment ISO RGD:735827 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:23535601|REF_RGD_ID:13504844 12380628 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:630 genetic disease ISO RGD:735827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12380628 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735827 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 12380628 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:9004610 Acute Lung Injury ISO RGD:2721 D RGD:9068941 20200609 RGD protein:decreased expression:lung (rat) PMID:25581610|REF_RGD_ID:13504847 12380628 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:9006008 Closed Head Injuries ISO RGD:735827 D RGD:9068941 20200609 RGD human protein in a rat model PMID:17014847|REF_RGD_ID:13504858 12380628 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:2721 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (rat) PMID:19823174|REF_RGD_ID:4145499 12380628 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735827 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12380628 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:9007480 Hyperoxia ISO RGD:2721 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:20049628|REF_RGD_ID:13504857 12380628 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:9007956 Febrile Seizures ISO RGD:2721 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:24373994|REF_RGD_ID:13504853 12380628 GOT1 glutamic-oxaloacetic transaminase 1 gene DOID:9120 amyloidosis treatment ISO RGD:735827 D RGD:9068941 20200609 RGD human protein in a rat model PMID:28390893|REF_RGD_ID:13504835 12380641 LBX1 ladybird homeobox 1 gene DOID:0090020 split hand-foot malformation ISO RGD:1606568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation PMID:21681106 12380641 LBX1 ladybird homeobox 1 gene DOID:630 genetic disease ISO RGD:1606568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12380641 LBX1 ladybird homeobox 1 gene DOID:9002001 Congenital Central Hypoventilation Syndrome 3 ISO RGD:1606568 D RGD:7240710 20211006 OMIM 12380641 LBX1 ladybird homeobox 1 gene DOID:9002001 Congenital Central Hypoventilation Syndrome 3 ISO RGD:1606568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 3 PMID:30487221 12380641 LBX1 ladybird homeobox 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1606568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19651985 12380648 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1348755 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12380648 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:0050476 Barth syndrome ISO RGD:1348755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria PMID:10480214|PMID:11238270|PMID:11748843|PMID:11968085|PMID:15793838|PMID:16199547|PMID:16427346|PMID:16601897|PMID:16684786|PMID:1719174|PMID:17576681|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22410210|PMID:23409742|PMID:23660394|PMID:24033266|PMID:24365856|PMID:24962355|PMID:25652404|PMID:25741868|PMID:26471271|PMID:26845103|PMID:28492532|PMID:29334594|PMID:31333075|PMID:31568572|PMID:9345098|PMID:9384614|PMID:9536098 12380648 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:0050700 cardiomyopathy ISO RGD:1348755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 12380648 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1348755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12380648 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12380648 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:0081164 dilated cardiomyopathy 3B ISO RGD:1348755 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 3B 12380648 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1348755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 12380648 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1348755 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12380648 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1348755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12380648 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1348755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12380648 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:12849 autistic disorder ISO RGD:1348755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12380648 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:12929 endocardial fibroelastosis ISO RGD:1348755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endocardial fibroelastosis 12380648 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 12380648 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:13628 favism ISO RGD:1348755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12380648 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1348755 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12380648 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:607 paraplegia ISO RGD:1348755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12380648 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:630 genetic disease ISO RGD:1348755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12380648 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1348755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:31333075|PMID:31568572 12380648 DNASE1L1 deoxyribonuclease 1 like 1 gene DOID:9002720 Splenomegaly ISO RGD:1348755 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12380660 TMEM129 transmembrane protein 129, E3 ubiquitin ligase gene DOID:1856 cherubism ISO RGD:1606992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12380660 TMEM129 transmembrane protein 129, E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1606992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12380678 TCF15 transcription factor 15 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1318246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:20206331|PMID:22824638|PMID:24239381|PMID:25462087|PMID:28492532 12380678 TCF15 transcription factor 15 gene DOID:11612 polycystic ovary syndrome ISO RGD:1318246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12380678 TCF15 transcription factor 15 gene DOID:630 genetic disease ISO RGD:1318246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12380678 TCF15 transcription factor 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12380678 TCF15 transcription factor 15 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:1318246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532 12380694 SSBP3 single stranded DNA binding protein 3 gene DOID:630 genetic disease ISO RGD:731988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12380694 SSBP3 single stranded DNA binding protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12380694 SSBP3 single stranded DNA binding protein 3 gene DOID:9008582 Developmental Disease ISO RGD:731988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12380714 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:68497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12380714 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:0080916 erythroleukemia ISO RGD:68497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 12380714 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:0111259 postaxial acrofacial dysostosis ISO RGD:68497 D RGD:7240710 20180130 OMIM 12380714 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:0111259 postaxial acrofacial dysostosis ISO RGD:68497 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Miller syndrome PMID:19915526|PMID:20220176|PMID:21346561|PMID:22692683|PMID:22967083|PMID:24033266|PMID:25741868|PMID:28492532 12380714 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:10923 sickle cell anemia ISO RGD:68497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 12380714 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:12241 beta thalassemia ISO RGD:68497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 12380714 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:12971 hereditary spherocytosis ISO RGD:68497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 12380714 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:630 genetic disease ISO RGD:68497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12380714 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:68352 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:6331524|REF_RGD_ID:5132618 12380714 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:9002457 Experimental Arthritis ISO RGD:68352 D RGD:9068941 20200609 RGD PMID:15182735|REF_RGD_ID:2316231 12380714 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:9002850 Immediate Hypersensitivity ISO RGD:68352 D RGD:9068941 20200609 RGD PMID:9918599|REF_RGD_ID:2316235 12380714 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:9004283 Transplant Rejection treatment ISO RGD:68352 D RGD:9068941 20200609 RGD PMID:8443191|REF_RGD_ID:11040447 12380714 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:68352 D RGD:9068941 20200609 RGD PMID:1723607|REF_RGD_ID:11040445 12380714 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:68352 D RGD:9068941 20200609 RGD protein:decreased activity:mammary gland (rat) PMID:1476792|REF_RGD_ID:5132591 12380714 DHODH dihydroorotate dehydrogenase (quinone) gene DOID:9006647 Experimental Autoimmune Neuritis treatment ISO RGD:68352 D RGD:9068941 20200609 RGD PMID:11522581|REF_RGD_ID:11040446 12380777 FAM161A FAM161 centrosomal protein A gene DOID:0050572 cone-rod dystrophy ISO RGD:2293814 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:20705278|PMID:20705279|PMID:24651477|PMID:25097241|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26113502|PMID:26574802|PMID:28492532|PMID:30718709 12380777 FAM161A FAM161 centrosomal protein A gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:2293814 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:28492532 12380777 FAM161A FAM161 centrosomal protein A gene DOID:0110365 retinitis pigmentosa 28 ISO RGD:2293814 D RGD:7240710 20180130 OMIM 12380777 FAM161A FAM161 centrosomal protein A gene DOID:0110365 retinitis pigmentosa 28 ISO RGD:2293814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 28 PMID:10507729|PMID:16199547|PMID:17576681|PMID:20705278|PMID:20705279|PMID:23167750|PMID:23591405|PMID:24520187|PMID:24651477|PMID:25007332|PMID:25097241|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26113502|PMID:26355662|PMID:26574802|PMID:27208204|PMID:28492532|PMID:28559085|PMID:28945494|PMID:30718709|PMID:31236346|PMID:9536098 12380777 FAM161A FAM161 centrosomal protein A gene DOID:10584 retinitis pigmentosa IAGP D RGD:12801476 20210603 OMIA Progressive retinal atrophy, type 3, FAM161A-related PMID:308725|PMID:8009801|PMID:15301758|PMID:24705771|PMID:3356591|PMID:26427412 12380777 FAM161A FAM161 centrosomal protein A gene DOID:10584 retinitis pigmentosa ISO RGD:2293814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10507729|PMID:20705278|PMID:20705279|PMID:23167750|PMID:23591405|PMID:24520187|PMID:24651477|PMID:25007332|PMID:25097241|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26113502|PMID:26355662|PMID:26574802|PMID:28041643|PMID:28492532|PMID:28945494|PMID:30718709 12380777 FAM161A FAM161 centrosomal protein A gene DOID:5419 schizophrenia ISO RGD:2293814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12380777 FAM161A FAM161 centrosomal protein A gene DOID:630 genetic disease ISO RGD:2293814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20705278|PMID:20705279|PMID:24651477|PMID:25741868|PMID:28492532 12380777 FAM161A FAM161 centrosomal protein A gene DOID:8501 fundus dystrophy ISO RGD:2293814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10507729|PMID:20705278|PMID:20705279|PMID:23591405|PMID:24651477|PMID:25097241|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26113502|PMID:26355662|PMID:26574802|PMID:27208204|PMID:28492532|PMID:28945494|PMID:30718709 12380797 PLA2G2C phospholipase A2 group IIC gene DOID:0060369 Parkinson's disease 6 ISO RGD:1349993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12380797 PLA2G2C phospholipase A2 group IIC gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1349993 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12380797 PLA2G2C phospholipase A2 group IIC gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1349993 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12380797 PLA2G2C phospholipase A2 group IIC gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1349993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12380797 PLA2G2C phospholipase A2 group IIC gene DOID:630 genetic disease ISO RGD:1349993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12380797 PLA2G2C phospholipase A2 group IIC gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1349993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12380854 KDM4C lysine demethylase 4C gene DOID:0050902 medulloblastoma ISO RGD:1316776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 12380854 KDM4C lysine demethylase 4C gene DOID:0050902 medulloblastoma ISO RGD:1316776 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (human) PMID:19270706|REF_RGD_ID:9587481 12380854 KDM4C lysine demethylase 4C gene DOID:0060001 withdrawal disorder susceptibility ISO RGD:1316776 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:22072270|REF_RGD_ID:9587485 12380854 KDM4C lysine demethylase 4C gene DOID:0060221 Maffucci syndrome ISO RGD:1316776 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maffucci syndrome PMID:25741868 12380854 KDM4C lysine demethylase 4C gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1316776 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12380854 KDM4C lysine demethylase 4C gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1316776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 12380854 KDM4C lysine demethylase 4C gene DOID:10283 prostate cancer severity ISO RGD:1316776 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland (human) PMID:20127736|REF_RGD_ID:9587486 12380854 KDM4C lysine demethylase 4C gene DOID:11934 head and neck cancer susceptibility ISO RGD:1316776 D RGD:9068941 20200609 RGD DNA:snps:cds, intron:p.N396D (rs2296067), IVS10G>T (rs818912) (human) PMID:19339270|REF_RGD_ID:9587748 12380854 KDM4C lysine demethylase 4C gene DOID:12849 autistic disorder ISO RGD:1316776 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS8-3292G>A (rs1340513) (human) PMID:20410850|REF_RGD_ID:9587484 12380854 KDM4C lysine demethylase 4C gene DOID:1612 breast cancer severity ISO RGD:1316776 D RGD:9068941 20200609 RGD DNA:snp:cds:p.D396N (rs2296067) (human) PMID:24952432|REF_RGD_ID:9587745 12380854 KDM4C lysine demethylase 4C gene DOID:1909 melanoma ISO RGD:1316776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 12380854 KDM4C lysine demethylase 4C gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1316776 D RGD:9068941 20200609 RGD protein:increased expression:esophageal epithelium, nucleus (human) PMID:24224128|REF_RGD_ID:9587746 12380854 KDM4C lysine demethylase 4C gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1316776 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS8-3292G>A (rs1340513) (human) PMID:15805246|REF_RGD_ID:9587752 12380854 KDM4C lysine demethylase 4C gene DOID:4450 renal cell carcinoma ISO RGD:1316776 D RGD:9068941 20200609 RGD DNA:deletion:cds (human) PMID:22483639|REF_RGD_ID:9587741 12380854 KDM4C lysine demethylase 4C gene DOID:4624 Ollier disease ISO RGD:1316776 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Enchondromatosis PMID:25741868 12380854 KDM4C lysine demethylase 4C gene DOID:5517 stomach carcinoma severity ISO RGD:1316776 D RGD:9068941 20200609 RGD protein:increased expression:stomach (human) PMID:24418035|REF_RGD_ID:9588260 12380854 KDM4C lysine demethylase 4C gene DOID:630 genetic disease ISO RGD:1316776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12380854 KDM4C lysine demethylase 4C gene DOID:9004118 Experimental Melanoma ISO RGD:1316776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 12380854 KDM4C lysine demethylase 4C gene DOID:9008939 Breast Neoplasms ISO RGD:1316776 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:23129632|REF_RGD_ID:9587482 12380854 KDM4C lysine demethylase 4C gene DOID:9008939 Breast Neoplasms severity ISO RGD:1316776 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:19784073|REF_RGD_ID:9587479 12380854 KDM4C lysine demethylase 4C gene DOID:9268 glycine encephalopathy ISO RGD:1316776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:28492532 12380854 KDM4C lysine demethylase 4C gene DOID:986 alopecia areata ISO RGD:1316776 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:21936853|REF_RGD_ID:9587460 12380902 MPDZ multiple PDZ domain crumbs cell polarity complex component gene DOID:0050563 nonsyndromic deafness ISO RGD:737285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing impairment PMID:28492532 12380902 MPDZ multiple PDZ domain crumbs cell polarity complex component gene DOID:0060041 autism spectrum disorder ISO RGD:737285 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12380902 MPDZ multiple PDZ domain crumbs cell polarity complex component gene DOID:10908 hydrocephalus ISO RGD:737285 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:23240096|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28556411 12380902 MPDZ multiple PDZ domain crumbs cell polarity complex component gene DOID:630 genetic disease ISO RGD:737285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28135719|PMID:28492532|PMID:29499638|PMID:29924831|PMID:9536098 12380902 MPDZ multiple PDZ domain crumbs cell polarity complex component gene DOID:9006616 Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies ISO RGD:737285 D RGD:7240710 20180130 OMIM 12380902 MPDZ multiple PDZ domain crumbs cell polarity complex component gene DOID:9006616 Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies ISO RGD:737285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 2 PMID:16199547|PMID:17576681|PMID:18414213|PMID:23240096|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28556411|PMID:29499638|PMID:32860008|PMID:9536098 12380957 KCMF1 potassium channel modulatory factor 1 gene DOID:630 genetic disease ISO RGD:1315004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12380970 ANKRD28 ankyrin repeat domain 28 gene DOID:0060417 3p deletion syndrome ISO RGD:1343361 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12380970 ANKRD28 ankyrin repeat domain 28 gene DOID:630 genetic disease ISO RGD:1343361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381029 BEST3 bestrophin 3 gene DOID:0060224 atrial fibrillation ISO RGD:1313470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12381029 BEST3 bestrophin 3 gene DOID:630 genetic disease ISO RGD:1313470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381051 LRRC14 leucine rich repeat containing 14 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1348401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:12952869|PMID:28492532 12381051 LRRC14 leucine rich repeat containing 14 gene DOID:630 genetic disease ISO RGD:1348401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381187 ATG9B autophagy related 9B gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1352218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 12381187 ATG9B autophagy related 9B gene DOID:2843 long QT syndrome ISO RGD:1352218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 12381187 ATG9B autophagy related 9B gene DOID:5426 primary ovarian insufficiency ISO RGD:1352218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12381187 ATG9B autophagy related 9B gene DOID:630 genetic disease ISO RGD:1352218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381206 ATG16L2 autophagy related 16 like 2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1606757 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12381206 ATG16L2 autophagy related 16 like 2 gene DOID:1059 intellectual disability ISO RGD:1606757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12381206 ATG16L2 autophagy related 16 like 2 gene DOID:630 genetic disease ISO RGD:1606757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381246 NALCN sodium leak channel, non-selective gene DOID:0060041 autism spectrum disorder ISO RGD:733715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930 12381246 NALCN sodium leak channel, non-selective gene DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome ISO RGD:733715 D RGD:7240710 20180130 OMIM 12381246 NALCN sodium leak channel, non-selective gene DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome ISO RGD:733715 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay PMID:25683120|PMID:25741868|PMID:25864427|PMID:26763878|PMID:26938784|PMID:27473021|PMID:27633718|PMID:27681385|PMID:28327206|PMID:28333917|PMID:28454995|PMID:28492532|PMID:30167850|PMID:32698188 12381246 NALCN sodium leak channel, non-selective gene DOID:0110878 holoprosencephaly 5 ISO RGD:733715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 12381246 NALCN sodium leak channel, non-selective gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:733715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:27214504|PMID:31680123 12381246 NALCN sodium leak channel, non-selective gene DOID:1059 intellectual disability ISO RGD:733715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12381246 NALCN sodium leak channel, non-selective gene DOID:14701 propionic acidemia ISO RGD:733715 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 12381246 NALCN sodium leak channel, non-selective gene DOID:1826 epilepsy ISO RGD:733715 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:26923739 12381246 NALCN sodium leak channel, non-selective gene DOID:630 genetic disease ISO RGD:733715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25683120|PMID:25741868|PMID:25864427|PMID:26763878|PMID:27214504|PMID:27473021|PMID:28133733|PMID:28327206|PMID:28454995|PMID:28492532|PMID:29610177 12381246 NALCN sodium leak channel, non-selective gene DOID:9001769 Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis ISO RGD:733715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability with episodic ataxia and congenital arthrogryposis PMID:25683120|PMID:25741868|PMID:25864427|PMID:26763878|PMID:28454995|PMID:28492532 12381246 NALCN sodium leak channel, non-selective gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:733715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12381246 NALCN sodium leak channel, non-selective gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12381246 NALCN sodium leak channel, non-selective gene DOID:9006534 Nervous System Malformations ISO RGD:733715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12381246 NALCN sodium leak channel, non-selective gene DOID:9006603 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies ISO RGD:733715 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies PMID:25741868 12381246 NALCN sodium leak channel, non-selective gene DOID:9008582 Developmental Disease ISO RGD:733715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12381246 NALCN sodium leak channel, non-selective gene DOID:9008988 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1 ISO RGD:733715 D RGD:7240710 20180130 OMIM 12381246 NALCN sodium leak channel, non-selective gene DOID:9008988 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1 ISO RGD:733715 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:23749988|PMID:24075186|PMID:25741868|PMID:28492532|PMID:29168298|PMID:29610177|PMID:30167850|PMID:30293248 12381297 ACTBL2 actin beta like 2 gene DOID:630 genetic disease ISO RGD:1603843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381297 ACTBL2 actin beta like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12381302 METAP1 methionyl aminopeptidase 1 gene DOID:1059 intellectual disability ISO RGD:1313634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:32764695 12381302 METAP1 methionyl aminopeptidase 1 gene DOID:630 genetic disease ISO RGD:1313634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381317 LRRC58 leucine rich repeat containing 58 gene DOID:630 genetic disease ISO RGD:1606179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381329 SF3B1 splicing factor 3b subunit 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346641 D RGD:7240710 20180130 OMIM 12381329 SF3B1 splicing factor 3b subunit 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346641 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia PMID:21909114|PMID:21995386|PMID:23395771|PMID:25741868 12381329 SF3B1 splicing factor 3b subunit 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1346641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma PMID:25741868|PMID:26619011 12381329 SF3B1 splicing factor 3b subunit 1 gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:1346641 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:23395771 12381329 SF3B1 splicing factor 3b subunit 1 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1346641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:26619011 12381329 SF3B1 splicing factor 3b subunit 1 gene DOID:1790 malignant mesothelioma ISO RGD:1346641 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 12381329 SF3B1 splicing factor 3b subunit 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1346641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:25741868|PMID:26619011 12381329 SF3B1 splicing factor 3b subunit 1 gene DOID:4450 renal cell carcinoma ISO RGD:1346641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:26619011 12381329 SF3B1 splicing factor 3b subunit 1 gene DOID:6039 uveal melanoma ISO RGD:1346641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uveal melanoma PMID:25741868|PMID:26619011 12381329 SF3B1 splicing factor 3b subunit 1 gene DOID:630 genetic disease ISO RGD:1346641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381329 SF3B1 splicing factor 3b subunit 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1346641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:23634996|PMID:26619011 12381329 SF3B1 splicing factor 3b subunit 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346641 D RGD:9068941 20210423 RGD mRNA, protein:increased expression:liver PMID:33038489|REF_RGD_ID:126790494 12381329 SF3B1 splicing factor 3b subunit 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1346641 D RGD:9068941 20210423 RGD PMID:33038489|REF_RGD_ID:126790494 12381329 SF3B1 splicing factor 3b subunit 1 gene DOID:8923 skin melanoma ISO RGD:1346641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:23634996|PMID:25741868|PMID:26619011 12381329 SF3B1 splicing factor 3b subunit 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1346641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:23634996|PMID:25741868|PMID:26619011 12381329 SF3B1 splicing factor 3b subunit 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346641 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12381329 SF3B1 splicing factor 3b subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12381329 SF3B1 splicing factor 3b subunit 1 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1346641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:26619011 12381329 SF3B1 splicing factor 3b subunit 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1346641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:23634996|PMID:26619011 12381329 SF3B1 splicing factor 3b subunit 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1346641 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:21909114|PMID:21995386|PMID:23395771|PMID:23634996|PMID:25741868|PMID:26619011 12381371 TNS1 tensin 1 gene DOID:630 genetic disease ISO RGD:68636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381371 TNS1 tensin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12381436 TMEM161B transmembrane protein 161B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603558 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12381436 TMEM161B transmembrane protein 161B gene DOID:630 genetic disease ISO RGD:1603558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381436 TMEM161B transmembrane protein 161B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12381436 TMEM161B transmembrane protein 161B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603558 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12381469 FAHD1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1348488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 12381469 FAHD1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1348488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12381469 FAHD1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:14227 azoospermia ISO RGD:1348488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 12381469 FAHD1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:1826 epilepsy ISO RGD:1348488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12381469 FAHD1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1348488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12381469 FAHD1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:630 genetic disease ISO RGD:1348488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381469 FAHD1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12381474 LPO lactoperoxidase gene DOID:0050777 Joubert syndrome ISO RGD:1320729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12381474 LPO lactoperoxidase gene DOID:1059 intellectual disability ISO RGD:1320729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12381474 LPO lactoperoxidase gene DOID:630 genetic disease ISO RGD:1320729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381493 FAM78B family with sequence similarity 78 member B gene DOID:1540 parathyroid carcinoma ISO RGD:1604229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12381493 FAM78B family with sequence similarity 78 member B gene DOID:630 genetic disease ISO RGD:1604229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381493 FAM78B family with sequence similarity 78 member B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12381499 GFRA1 GDNF family receptor alpha 1 gene DOID:0080855 Parkinsonism ISO RGD:2681 D RGD:9068941 20200609 RGD PMID:21865882|REF_RGD_ID:6218962 12381499 GFRA1 GDNF family receptor alpha 1 gene DOID:0080855 Parkinsonism ISO RGD:2681 D RGD:9068941 20200609 RGD mRNA:altered expression:brain PMID:12210101|REF_RGD_ID:6218972 12381499 GFRA1 GDNF family receptor alpha 1 gene DOID:10487 Hirschsprung's disease ISO RGD:733164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 12381499 GFRA1 GDNF family receptor alpha 1 gene DOID:11446 sciatic neuropathy ISO RGD:2681 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord dorsal horn PMID:20533358|REF_RGD_ID:6218963 12381499 GFRA1 GDNF family receptor alpha 1 gene DOID:2316 brain ischemia ISO RGD:2681 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:10407114|REF_RGD_ID:6218981 12381499 GFRA1 GDNF family receptor alpha 1 gene DOID:3049 Churg-Strauss syndrome ISO RGD:733164 D RGD:9068941 20200609 RGD PMID:9853108|REF_RGD_ID:6218983 12381499 GFRA1 GDNF family receptor alpha 1 gene DOID:630 genetic disease ISO RGD:733164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381499 GFRA1 GDNF family receptor alpha 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12381499 GFRA1 GDNF family receptor alpha 1 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:2681 D RGD:9068941 20200609 RGD mRNA:increased expression:hypoglossal XII nerve PMID:10407179|REF_RGD_ID:6218979 12381499 GFRA1 GDNF family receptor alpha 1 gene DOID:9002211 Hyperalgesia ISO RGD:2681 D RGD:9068941 20200609 RGD PMID:16464682|REF_RGD_ID:6218969 12381499 GFRA1 GDNF family receptor alpha 1 gene DOID:9004001 Facial Nerve Injuries ISO RGD:2681 D RGD:9068941 20200609 RGD mRNA:increased expression:facial VII nucleus PMID:9582449|REF_RGD_ID:6218984 12381499 GFRA1 GDNF family receptor alpha 1 gene DOID:9005365 Renal Hypodysplasia/Aplasia 4 ISO RGD:733164 D RGD:7240710 20220608 OMIM 12381499 GFRA1 GDNF family receptor alpha 1 gene DOID:9005365 Renal Hypodysplasia/Aplasia 4 ISO RGD:733164 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 4 PMID:25741868|PMID:33020172|PMID:34737117 12381499 GFRA1 GDNF family receptor alpha 1 gene DOID:9005968 Neuralgia ISO RGD:733164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18400411 12381499 GFRA1 GDNF family receptor alpha 1 gene DOID:9007096 Stroke ISO RGD:2681 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:11476594|REF_RGD_ID:6218974 12381499 GFRA1 GDNF family receptor alpha 1 gene DOID:9008091 Optic Nerve Injuries ISO RGD:2681 D RGD:9068941 20200609 RGD PMID:15144875|REF_RGD_ID:6218970 12381499 GFRA1 GDNF family receptor alpha 1 gene DOID:9810 polyarteritis nodosa ISO RGD:733164 D RGD:9068941 20200609 RGD PMID:9853108|REF_RGD_ID:6218983 12381520 UBALD1 UBA like domain containing 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604544 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12381520 UBALD1 UBA like domain containing 1 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1604544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 12381520 UBALD1 UBA like domain containing 1 gene DOID:1826 epilepsy ISO RGD:1604544 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12381520 UBALD1 UBA like domain containing 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604544 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12381520 UBALD1 UBA like domain containing 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1604544 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12381520 UBALD1 UBA like domain containing 1 gene DOID:630 genetic disease ISO RGD:1604544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381527 RBM24 RNA binding motif protein 24 gene DOID:12930 dilated cardiomyopathy ISO RGD:1614519 D RGD:9068941 20221229 MouseDO 12381527 RBM24 RNA binding motif protein 24 gene DOID:630 genetic disease ISO RGD:1317276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381536 IL10RA interleukin 10 receptor subunit alpha gene DOID:0050589 inflammatory bowel disease ISO RGD:731000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 12381536 IL10RA interleukin 10 receptor subunit alpha gene DOID:0060017 CD3epsilon deficiency ISO RGD:731000 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12381536 IL10RA interleukin 10 receptor subunit alpha gene DOID:0060837 isolated microphthalmia 5 ISO RGD:731000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12381536 IL10RA interleukin 10 receptor subunit alpha gene DOID:0080600 COVID-19 ISO RGD:731000 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12381536 IL10RA interleukin 10 receptor subunit alpha gene DOID:0080690 RASopathy ISO RGD:731000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12381536 IL10RA interleukin 10 receptor subunit alpha gene DOID:0081330 glycogen storage disease Ib ISO RGD:731000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12381536 IL10RA interleukin 10 receptor subunit alpha gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:731000 D RGD:7240710 20180130 OMIM 12381536 IL10RA interleukin 10 receptor subunit alpha gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:731000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:16199547|PMID:1635567|PMID:17277165|PMID:17576681|PMID:19890111|PMID:21519361|PMID:22476154|PMID:22549091|PMID:23158016|PMID:24001973|PMID:24033266|PMID:24216686|PMID:24813381|PMID:24910257|PMID:25373860|PMID:25741868|PMID:26193622|PMID:26822028|PMID:27699570|PMID:28267044|PMID:28492532|PMID:28930861|PMID:29140941|PMID:29248579|PMID:29531467|PMID:30212871|PMID:30894704|PMID:33359885|PMID:8490660|PMID:9536098 12381536 IL10RA interleukin 10 receptor subunit alpha gene DOID:0111123 nephronophthisis 15 ISO RGD:731000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 12381536 IL10RA interleukin 10 receptor subunit alpha gene DOID:0111971 immunodeficiency 18 ISO RGD:731000 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12381536 IL10RA interleukin 10 receptor subunit alpha gene DOID:0111972 immunodeficiency 19 ISO RGD:731000 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12381536 IL10RA interleukin 10 receptor subunit alpha gene DOID:0111973 immunodeficiency 17 ISO RGD:731000 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12381536 IL10RA interleukin 10 receptor subunit alpha gene DOID:1059 intellectual disability ISO RGD:731000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12381536 IL10RA interleukin 10 receptor subunit alpha gene DOID:630 genetic disease ISO RGD:731000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12381536 IL10RA interleukin 10 receptor subunit alpha gene DOID:8778 Crohn's disease ISO RGD:731000 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 12381536 IL10RA interleukin 10 receptor subunit alpha gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:620138 D RGD:9068941 20200609 RGD PMID:12620647|REF_RGD_ID:2316323 12381536 IL10RA interleukin 10 receptor subunit alpha gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:731000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12381536 IL10RA interleukin 10 receptor subunit alpha gene DOID:9007661 Dwarfism ISO RGD:731000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12381536 IL10RA interleukin 10 receptor subunit alpha gene DOID:9146 visceral leishmaniasis ISO RGD:731000 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15716043 12381547 CSRP3 cysteine and glycine rich protein 3 gene DOID:0050700 cardiomyopathy ISO RGD:733068 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12507422|PMID:14567970|PMID:15781201|PMID:16352453|PMID:17084280|PMID:18505755|PMID:19035361|PMID:20044516|PMID:20474083|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26656175|PMID:27532257|PMID:28492532|PMID:28790153|PMID:30012424|PMID:30847666|PMID:31737537|PMID:31919335|PMID:32697969|PMID:33012304|PMID:33035702|PMID:33495597|PMID:34426522|PMID:9039266 12381547 CSRP3 cysteine and glycine rich protein 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:733068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:16199547|PMID:16352453|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:31737537 12381547 CSRP3 cysteine and glycine rich protein 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:733068 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:16352453|PMID:18505755|PMID:23299917|PMID:24033266|PMID:25741868|PMID:28492532 12381547 CSRP3 cysteine and glycine rich protein 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:733068 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:16352453|PMID:17097056|PMID:18505755|PMID:23299917|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28790153|PMID:30012424|PMID:31737537|PMID:34426522 12381547 CSRP3 cysteine and glycine rich protein 3 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:733068 D RGD:7240710 20180130 OMIM 12381547 CSRP3 cysteine and glycine rich protein 3 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:733068 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:12507422|PMID:12642359|PMID:14567970|PMID:15781201|PMID:16199547|PMID:16352453|PMID:17084280|PMID:17097056|PMID:17576681|PMID:18250163|PMID:18505755|PMID:19035361|PMID:19412328|PMID:20044516|PMID:20087448|PMID:20474083|PMID:21425739|PMID:22337857|PMID:22429680|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25351510|PMID:25611685|PMID:25741868|PMID:26656175|PMID:27353086|PMID:27532257|PMID:27650965|PMID:28492532|PMID:28750076|PMID:28790153|PMID:28878402|PMID:29247119|PMID:29544605|PMID:30012424|PMID:30048712|PMID:30847666|PMID:31006259|PMID:31513939|PMID:31737537|PMID:31919335|PMID:31983221|PMID:32697969|PMID:32746448|PMID:32789579|PMID:32880476|PMID:33012304|PMID:33035702|PMID:33297573|PMID:33495597|PMID:34426522|PMID:34526680|PMID:8994428|PMID:9039266|PMID:9536098 12381547 CSRP3 cysteine and glycine rich protein 3 gene DOID:0110449 dilated cardiomyopathy 1M ISO RGD:733068 D RGD:7240710 20180130 OMIM 12381547 CSRP3 cysteine and glycine rich protein 3 gene DOID:0110449 dilated cardiomyopathy 1M ISO RGD:733068 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1M PMID:12507422|PMID:12642359|PMID:14567970|PMID:15781201|PMID:16199547|PMID:16352453|PMID:17084280|PMID:17097056|PMID:18250163|PMID:18505755|PMID:19035361|PMID:19412328|PMID:20044516|PMID:20474083|PMID:22337857|PMID:22429680|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25351510|PMID:25611685|PMID:25741868|PMID:26656175|PMID:27353086|PMID:27532257|PMID:27650965|PMID:28492532|PMID:28750076|PMID:28790153|PMID:28878402|PMID:29544605|PMID:30012424|PMID:30048712|PMID:30847666|PMID:31006259|PMID:31513939|PMID:31737537|PMID:32697969|PMID:32746448|PMID:32880476|PMID:33012304|PMID:33035702|PMID:33297573|PMID:33495597|PMID:34426522|PMID:34526680|PMID:8994428|PMID:9039266 12381547 CSRP3 cysteine and glycine rich protein 3 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:733068 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 12381547 CSRP3 cysteine and glycine rich protein 3 gene DOID:1059 intellectual disability ISO RGD:733068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12381547 CSRP3 cysteine and glycine rich protein 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:12507422|PMID:12642359|PMID:14567970|PMID:15781201|PMID:16352453|PMID:17084280|PMID:18250163|PMID:18505755|PMID:19035361|PMID:20044516|PMID:20474083|PMID:21425739|PMID:22337857|PMID:22429680|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:25351510|PMID:25741868|PMID:26656175|PMID:27353086|PMID:27532257|PMID:28492532|PMID:28790153|PMID:30012424|PMID:30048712|PMID:31513939|PMID:8994428|PMID:9039266 12381547 CSRP3 cysteine and glycine rich protein 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:733068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12507422|PMID:14567970|PMID:15781201|PMID:16352453|PMID:17084280|PMID:18505755|PMID:20044516|PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26656175|PMID:28492532|PMID:9039266 12381547 CSRP3 cysteine and glycine rich protein 3 gene DOID:2843 long QT syndrome ISO RGD:733068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prolonged QT interval PMID:24033266|PMID:25741868|PMID:28492532|PMID:28790153 12381547 CSRP3 cysteine and glycine rich protein 3 gene DOID:303 substance-related disorder ISO RGD:733068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12381547 CSRP3 cysteine and glycine rich protein 3 gene DOID:3910 lung adenocarcinoma ISO RGD:733068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12381547 CSRP3 cysteine and glycine rich protein 3 gene DOID:6000 congestive heart failure ISO RGD:733069 D RGD:9068941 20220825 MouseDO 12381547 CSRP3 cysteine and glycine rich protein 3 gene DOID:630 genetic disease ISO RGD:733068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12381547 CSRP3 cysteine and glycine rich protein 3 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:71092 D RGD:9068941 20200609 RGD PMID:11113014|REF_RGD_ID:1598503 12381547 CSRP3 cysteine and glycine rich protein 3 gene DOID:9006205 Animal Disease Models ISO RGD:733068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12381547 CSRP3 cysteine and glycine rich protein 3 gene DOID:9007820 Sudden Death ISO RGD:733068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:12507422|PMID:14567970|PMID:15781201|PMID:16352453|PMID:17084280|PMID:18505755|PMID:20044516|PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26656175|PMID:28492532|PMID:9039266 12381566 SLC18B1 solute carrier family 18 member B1 gene DOID:630 genetic disease ISO RGD:1315874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381590 FAM120B family with sequence similarity 120B gene DOID:13938 amenorrhea ISO RGD:1321130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12381590 FAM120B family with sequence similarity 120B gene DOID:630 genetic disease ISO RGD:1321130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381612 RNF220 ring finger protein 220 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12381612 RNF220 ring finger protein 220 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12381612 RNF220 ring finger protein 220 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12381612 RNF220 ring finger protein 220 gene DOID:630 genetic disease ISO RGD:1605659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381612 RNF220 ring finger protein 220 gene DOID:9000978 Hypomyelinating Leukodystrophy 23 with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy ISO RGD:1605659 D RGD:7240710 20220112 OMIM 12381612 RNF220 ring finger protein 220 gene DOID:9000978 Hypomyelinating Leukodystrophy 23 with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy ISO RGD:1605659 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy PMID:10881263|PMID:33964137|PMID:36083980 12381641 LRIT1 leucine rich repeat, Ig-like and transmembrane domains 1 gene DOID:630 genetic disease ISO RGD:736558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381733 PHLDA3 pleckstrin homology like domain family A member 3 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1321441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12381733 PHLDA3 pleckstrin homology like domain family A member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1321441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12381733 PHLDA3 pleckstrin homology like domain family A member 3 gene DOID:5844 myocardial infarction ISO RGD:1321441 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34351043 12381733 PHLDA3 pleckstrin homology like domain family A member 3 gene DOID:630 genetic disease ISO RGD:1321441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381733 PHLDA3 pleckstrin homology like domain family A member 3 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1321441 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12381733 PHLDA3 pleckstrin homology like domain family A member 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1321441 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34351043 12381733 PHLDA3 pleckstrin homology like domain family A member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12381778 CRX cone-rod homeobox gene DOID:0050439 Usher syndrome ISO RGD:733182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:25741868 12381778 CRX cone-rod homeobox gene DOID:0050572 cone-rod dystrophy ISO RGD:733182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:10874321|PMID:11971869|PMID:25741868|PMID:26992781|PMID:28492532|PMID:30718709|PMID:31626798|PMID:32533067|PMID:33691693|PMID:9390563 12381778 CRX cone-rod homeobox gene DOID:0050817 Stargardt disease ISO RGD:733182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:28492532|PMID:29555955|PMID:30718709|PMID:32533067|PMID:35934205 12381778 CRX cone-rod homeobox gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:733182 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:25741868|PMID:26355662|PMID:28492532|PMID:29641573|PMID:30718709|PMID:31626798|PMID:31630094|PMID:32865313 12381778 CRX cone-rod homeobox gene DOID:0110333 Leber congenital amaurosis 7 ISO RGD:733182 D RGD:7240710 20180130 OMIM 12381778 CRX cone-rod homeobox gene DOID:0110333 Leber congenital amaurosis 7 ISO RGD:733182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 7 PMID:10766140|PMID:10874321|PMID:10916183|PMID:11139241|PMID:11748859|PMID:11910559|PMID:11971869|PMID:12208271|PMID:12359607|PMID:12843339|PMID:15531334|PMID:15994872|PMID:16123401|PMID:16199547|PMID:17576681|PMID:17964524|PMID:18682808|PMID:20301475|PMID:20513135|PMID:21602930|PMID:22960069|PMID:22968130|PMID:23049240|PMID:23806086|PMID:24088041|PMID:24154662|PMID:24265693|PMID:24516401|PMID:25259927|PMID:25270190|PMID:25326637|PMID:25356976|PMID:25741868|PMID:26161267|PMID:26355662|PMID:26682157|PMID:26992781|PMID:27032803|PMID:27208204|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28945142|PMID:28966547|PMID:29068479|PMID:29555955|PMID:29568065|PMID:29641573|PMID:29785639|PMID:29847639|PMID:30029497|PMID:30460480|PMID:30543658|PMID:30557390|PMID:30718709|PMID:30945053|PMID:31047384|PMID:31054281|PMID:31215831|PMID:31626798|PMID:31630094|PMID:31743059|PMID:32533067|PMID:32581362|PMID:32689858|PMID:32865313|PMID:32927963|PMID:33090715|PMID:33546218|PMID:33691693|PMID:35934205|PMID:9390563|PMID:9427255|PMID:9536098|PMID:9537410|PMID:9792858|PMID:9931337 12381778 CRX cone-rod homeobox gene DOID:0111005 cone-rod dystrophy 2 ISO RGD:733182 D RGD:7240710 20180130 OMIM 12381778 CRX cone-rod homeobox gene DOID:0111005 cone-rod dystrophy 2 ISO RGD:733182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 PMID:10766140|PMID:10874321|PMID:10916183|PMID:11139241|PMID:11748859|PMID:11971869|PMID:15531334|PMID:16123401|PMID:17964524|PMID:18682808|PMID:22960069|PMID:23049240|PMID:24265693|PMID:25741868|PMID:26161267|PMID:26355662|PMID:26682157|PMID:28492532|PMID:28945142|PMID:29068479|PMID:29785639|PMID:30543658|PMID:30718709|PMID:31054281|PMID:31215831|PMID:31626798|PMID:31630094|PMID:32533067|PMID:33546218|PMID:33691693|PMID:9390563|PMID:9427255|PMID:9792858 12381778 CRX cone-rod homeobox gene DOID:10283 prostate cancer ISO RGD:733182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12381778 CRX cone-rod homeobox gene DOID:10584 retinitis pigmentosa ISO RGD:733182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10766140|PMID:11139241|PMID:11748859|PMID:16123401|PMID:17964524|PMID:18682808|PMID:20513135|PMID:22960069|PMID:23049240|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:30460480|PMID:30718709|PMID:9427255|PMID:9792858 12381778 CRX cone-rod homeobox gene DOID:10584 retinitis pigmentosa ISO RGD:733182 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10766140|PMID:11139241|PMID:11748859|PMID:16123401|PMID:17964524|PMID:18682808|PMID:22960069|PMID:23049240|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:30460480|PMID:30718709|PMID:9427255|PMID:9792858 12381778 CRX cone-rod homeobox gene DOID:10584 retinitis pigmentosa ISO RGD:733182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10766140|PMID:11139241|PMID:11748859|PMID:16123401|PMID:17964524|PMID:18682808|PMID:20513135|PMID:22960069|PMID:23049240|PMID:25741868|PMID:26355662|PMID:27624628|PMID:28041643|PMID:28492532|PMID:30460480|PMID:30718709|PMID:31626798|PMID:33090715|PMID:9427255|PMID:9792858 12381778 CRX cone-rod homeobox gene DOID:14791 Leber congenital amaurosis ISO RGD:733182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:26872967|PMID:32165824 12381778 CRX cone-rod homeobox gene DOID:3529 central core disease ISO RGD:733182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:11139241|PMID:16123401|PMID:17964524|PMID:23049240|PMID:25741868|PMID:28492532 12381778 CRX cone-rod homeobox gene DOID:4448 macular degeneration ISO RGD:733182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:28041643 12381778 CRX cone-rod homeobox gene DOID:630 genetic disease ISO RGD:733182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12381778 CRX cone-rod homeobox gene DOID:8466 retinal degeneration ISO RGD:733182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9792858 12381778 CRX cone-rod homeobox gene DOID:8501 fundus dystrophy ISO RGD:733182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10916183|PMID:11748859|PMID:11971869|PMID:21602930|PMID:24154662|PMID:24265693|PMID:24516401|PMID:25270190|PMID:25326637|PMID:25741868|PMID:26161267|PMID:27624628|PMID:28041643|PMID:28492532|PMID:29068479|PMID:29555955|PMID:29641573|PMID:29785639|PMID:30543658|PMID:31215831|PMID:31626798|PMID:31630094|PMID:32533067|PMID:32581362|PMID:32689858|PMID:32927963|PMID:33090715|PMID:33546218|PMID:9427255|PMID:9792858|PMID:9931337 12381778 CRX cone-rod homeobox gene DOID:9000341 Concentric Annular Macular Dystrophy ISO RGD:733182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign concentric annular macular dystrophy PMID:23806086|PMID:24088041|PMID:25259927|PMID:28492532 12381786 TMEM190 transmembrane protein 190 gene DOID:630 genetic disease ISO RGD:1604743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381795 VAPB VAMP associated protein B and C gene DOID:0050752 amyotrophic lateral sclerosis type 8 ISO RGD:68452 D RGD:7240710 20180130 OMIM 12381795 VAPB VAMP associated protein B and C gene DOID:0050752 amyotrophic lateral sclerosis type 8 ISO RGD:68452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 PMID:15372378|PMID:16187141|PMID:16967488|PMID:17576681|PMID:17804640|PMID:18322265|PMID:18677189|PMID:19183264|PMID:20008544|PMID:20377183|PMID:20447143|PMID:20577002|PMID:20940299|PMID:21275991|PMID:21685205|PMID:21933185|PMID:22131369|PMID:22258555|PMID:22454507|PMID:22878164|PMID:23333387|PMID:23446633|PMID:23771029|PMID:23971766|PMID:24212516|PMID:24326187|PMID:24681403|PMID:24792378|PMID:25741868|PMID:26362251|PMID:26467025|PMID:26566915|PMID:27978769|PMID:28492532|PMID:9536098 12381795 VAPB VAMP associated protein B and C gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:68452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant 12381795 VAPB VAMP associated protein B and C gene DOID:0111194 autosomal dominant adult-onset proximal spinal muscular atrophy ISO RGD:68452 D RGD:7240710 20180130 OMIM 12381795 VAPB VAMP associated protein B and C gene DOID:0111194 autosomal dominant adult-onset proximal spinal muscular atrophy ISO RGD:68452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adult-onset proximal spinal muscular atrophy, autosomal dominant PMID:15372378|PMID:16187141|PMID:16967488|PMID:17804640|PMID:18322265|PMID:18677189|PMID:19183264|PMID:20008544|PMID:20377183|PMID:20447143|PMID:20577002|PMID:21275991|PMID:21685205|PMID:21933185|PMID:22131369|PMID:22258555|PMID:22454507|PMID:22878164|PMID:23333387|PMID:23446633|PMID:23771029|PMID:23971766|PMID:24212516|PMID:24681403|PMID:25741868|PMID:26467025|PMID:26566915|PMID:27978769|PMID:28492532 12381795 VAPB VAMP associated protein B and C gene DOID:12377 spinal muscular atrophy ISO RGD:68452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal Muscular Atrophy, Dominant 12381795 VAPB VAMP associated protein B and C gene DOID:12377 spinal muscular atrophy onset ISO RGD:68452 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P56S (human) PMID:15372378|REF_RGD_ID:5688230 12381795 VAPB VAMP associated protein B and C gene DOID:332 amyotrophic lateral sclerosis ISO RGD:68452 D RGD:9068941 20220811 RGD DNA:missense mutation:cds:p.P56S (human) PMID:15372378|REF_RGD_ID:5688230 12381795 VAPB VAMP associated protein B and C gene DOID:630 genetic disease ISO RGD:68452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15372378|PMID:16187141|PMID:16967488|PMID:17576681|PMID:17804640|PMID:21275991|PMID:22878164|PMID:23771029|PMID:23971766|PMID:24326187|PMID:24681403|PMID:24792378|PMID:25741868|PMID:26362251|PMID:26467025|PMID:28492532|PMID:9536098 12381808 ALKBH2 alkB homolog 2, alpha-ketoglutarate dependent dioxygenase gene DOID:630 genetic disease ISO RGD:1605008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381827 SPINK5 serine peptidase inhibitor Kazal type 5 gene DOID:0050474 Netherton syndrome ISO RGD:1315213 D RGD:7240710 20180130 OMIM 12381827 SPINK5 serine peptidase inhibitor Kazal type 5 gene DOID:0050474 Netherton syndrome ISO RGD:1315213 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Netherton disease | ClinVar Annotator: match by term: Netherton syndrome PMID:10835624|PMID:11511292|PMID:11544479|PMID:11841556|PMID:12752122|PMID:12923596|PMID:15304086|PMID:15656819|PMID:16199547|PMID:16601670|PMID:16628198|PMID:17415575|PMID:17576681|PMID:18577046|PMID:19683336|PMID:20107740|PMID:21255986|PMID:21564178|PMID:22089833|PMID:22377713|PMID:23331056|PMID:24015757|PMID:24033266|PMID:25640679|PMID:25665175|PMID:25710899|PMID:25741868|PMID:25819062|PMID:26031502|PMID:26193622|PMID:26229701|PMID:26865388|PMID:27905021|PMID:27988933|PMID:28289593|PMID:28492532|PMID:28832562|PMID:28832989|PMID:28943498|PMID:29444371|PMID:29926005|PMID:30293248|PMID:30477583|PMID:31953843|PMID:32441320|PMID:32459284|PMID:32573669|PMID:32709676|PMID:33452875|PMID:34604321|PMID:36169939|PMID:9536098 12381827 SPINK5 serine peptidase inhibitor Kazal type 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1315213 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12381827 SPINK5 serine peptidase inhibitor Kazal type 5 gene DOID:10754 otitis media ISO RGD:1315213 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to nonsyndromic otitis media PMID:11511292|PMID:25741868|PMID:26865388|PMID:28492532|PMID:32709676 12381827 SPINK5 serine peptidase inhibitor Kazal type 5 gene DOID:630 genetic disease ISO RGD:1315213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12381827 SPINK5 serine peptidase inhibitor Kazal type 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12381827 SPINK5 serine peptidase inhibitor Kazal type 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12381827 SPINK5 serine peptidase inhibitor Kazal type 5 gene DOID:9006215 Exfoliative Dermatitis ISO RGD:1315213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythroderma PMID:15304086|PMID:19683336|PMID:21255986|PMID:22089833|PMID:22377713|PMID:25665175|PMID:25741868|PMID:26229701|PMID:28289593|PMID:28492532 12381827 SPINK5 serine peptidase inhibitor Kazal type 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315213 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12381864 PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 gene DOID:1459 hypothyroidism ISO RGD:631339 D RGD:9068941 20200609 RGD mRNA:decreased expression:multiple organs PMID:15817667|REF_RGD_ID:2314536 12381864 PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12381864 PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 gene DOID:630 genetic disease ISO RGD:1346467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 12381864 PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1346467 D RGD:9068941 20230105 RGD mRNA, protein:increased expression:liver (human) PMID:29059470|REF_RGD_ID:155791679 12381864 PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1553789 D RGD:9068941 20230105 RGD PMID:29059470|REF_RGD_ID:155791679 12381864 PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1346467 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intracerebral hemorrhage PMID:25741868|PMID:28492532 12381864 PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 gene DOID:9004209 Bone Fragility with Contractures, Arterial Rupture, and Deafness ISO RGD:1346467 D RGD:7240710 20180130 OMIM 12381864 PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 gene DOID:9004209 Bone Fragility with Contractures, Arterial Rupture, and Deafness ISO RGD:1346467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bone fragility with contractures, arterial rupture, and deafness | ClinVar Annotator: match by term: PLOD3-Related Disorder PMID:18834968|PMID:25741868|PMID:28492532|PMID:30089812 12381864 PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:1346467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY PMID:21681106 12381887 FEM1C fem-1 homolog C gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319607 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12381887 FEM1C fem-1 homolog C gene DOID:12849 autistic disorder ISO RGD:1319607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12381887 FEM1C fem-1 homolog C gene DOID:630 genetic disease ISO RGD:1319607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381887 FEM1C fem-1 homolog C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12381887 FEM1C fem-1 homolog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12381887 FEM1C fem-1 homolog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319607 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12381893 MYRIP myosin VIIA and Rab interacting protein gene DOID:630 genetic disease ISO RGD:1351320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1604803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1604803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:25741868|PMID:28492532|PMID:32376792 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0050690 brachyolmia ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brachyolmia | ClinVar Annotator: match by term: Brachyrachia PMID:18587396|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22419508|PMID:22689196|PMID:22702953|PMID:22851605|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25703509|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28166811|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31475037|PMID:32376792|PMID:4056805|PMID:8179305 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0080001 bone disease ISO RGD:1604803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21964574|PMID:22187434 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0080006 bone development disease ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:10463355|PMID:12884428|PMID:14755468|PMID:17879966|PMID:18587396|PMID:19232556|PMID:20037588|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21573172|PMID:21658220|PMID:21964829|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22702953|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24830047|PMID:25703509|PMID:25741868|PMID:25802885|PMID:26048687|PMID:26170305|PMID:26249260|PMID:26377240|PMID:26467025|PMID:26948711|PMID:27530454|PMID:28492532|PMID:28687525|PMID:29776788|PMID:32381727|PMID:34008892|PMID:6628444 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type ISO RGD:1604803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia PMID:28492532 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C ISO RGD:1604803 D RGD:7240710 20180711 OMIM 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy 2 C PMID:10463355|PMID:11891693|PMID:12884428|PMID:14755468|PMID:1520078|PMID:15668982|PMID:16199547|PMID:17576681|PMID:17879966|PMID:18587396|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:21964574|PMID:21964829|PMID:22065612|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22675077|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:23306656|PMID:24319099|PMID:24342753|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24830047|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25363768|PMID:25703509|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26046366|PMID:26048687|PMID:26110311|PMID:26170305|PMID:26249260|PMID:26377240|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27066566|PMID:27330106|PMID:27549087|PMID:27751652|PMID:28166811|PMID:28251916|PMID:28492532|PMID:28687525|PMID:28898540|PMID:29770609|PMID:29776788|PMID:29858556|PMID:30214761|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31041394|PMID:31191204|PMID:31407473|PMID:31468327|PMID:31475037|PMID:32028661|PMID:32376792|PMID:32381727|PMID:32579787|PMID:34008892|PMID:4056805|PMID:6628444|PMID:8179305|PMID:9536098|PMID:956253 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0110555 autosomal dominant nonsyndromic deafness 25 ISO RGD:735797 D RGD:9068941 20220825 MouseDO OMIM:605583 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1604803 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy PMID:10463355|PMID:1520078|PMID:15668982|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20460441|PMID:21115951|PMID:21288981|PMID:21454511|PMID:22065612|PMID:22291064|PMID:22526352|PMID:22702953|PMID:24319099|PMID:24789864|PMID:25741868|PMID:26048687|PMID:26467025|PMID:26948711|PMID:28492532|PMID:31041394|PMID:31191204|PMID:31468327|PMID:32579787|PMID:8179305 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1604803 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:20037586|PMID:20037587|PMID:20037588|PMID:20460441|PMID:21336783|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28492532 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111215 distal hereditary motor neuronopathy type 8 ISO RGD:1604803 D RGD:7240710 20180130 OMIM 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111215 distal hereditary motor neuronopathy type 8 ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal dominant congenital benign spinal muscular atrophy | ClinVar Annotator: match by term: Distal spinal muscular atrophy, congenital nonprogressive | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII PMID:10463355|PMID:15668982|PMID:17879966|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:21964574|PMID:22065612|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22675077|PMID:22689196|PMID:22702953|PMID:22851605|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25741868|PMID:25900305|PMID:26048687|PMID:26110311|PMID:26377240|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27549087|PMID:27751652|PMID:28166811|PMID:28251916|PMID:28492532|PMID:28687525|PMID:28898540|PMID:29776788|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31041394|PMID:31191204|PMID:31475037|PMID:32376792|PMID:32381727|PMID:32579787|PMID:34008892|PMID:4056805|PMID:8179305 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111453 2-aminoadipic 2-oxoadipic aciduria ISO RGD:1604803 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 2-KETOADIPIC ACIDURIA PMID:25326637|PMID:25741868|PMID:28492532 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111514 metatropic dysplasia ISO RGD:1604803 D RGD:7240710 20180130 OMIM 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111514 metatropic dysplasia ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Metatropic dwarfism | ClinVar Annotator: match by term: Metatropic dysplasia PMID:14755468|PMID:17879966|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:21964574|PMID:21964829|PMID:22419508|PMID:22689196|PMID:22702953|PMID:22851605|PMID:24575025|PMID:24789864|PMID:24830047|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26249260|PMID:26377240|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27530454|PMID:27751652|PMID:28166811|PMID:28251916|PMID:28492532|PMID:28687525|PMID:28898540|PMID:29776788|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31475037|PMID:32376792|PMID:32381727|PMID:34008892|PMID:4056805|PMID:6628444|PMID:8179305 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111539 parastremmatic dwarfism ISO RGD:1604803 D RGD:7240710 20180130 OMIM 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111539 parastremmatic dwarfism ISO RGD:1604803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parastremmatic dwarfism PMID:14755468|PMID:17879966|PMID:19232556|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26249260|PMID:26377240|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28251916|PMID:28492532|PMID:28687525|PMID:29776788|PMID:29858556|PMID:30230566|PMID:30373780|PMID:32381727|PMID:34008892|PMID:4056805|PMID:6628444|PMID:8179305 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111552 scapuloperoneal spinal muscular atrophy ISO RGD:1604803 D RGD:7240710 20180130 OMIM 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111552 scapuloperoneal spinal muscular atrophy ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Amyotrophy, neurogenic scapuloperoneal, New England type | ClinVar Annotator: match by term: Scapuloperoneal Form of Spinal Muscular Atrophy | ClinVar Annotator: match by term: Scapuloperoneal spinal muscular atrophy PMID:1520078|PMID:15668982|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22065612|PMID:22419508|PMID:22689196|PMID:22702953|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28166811|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31041394|PMID:31191204|PMID:31468327|PMID:31475037|PMID:32376792|PMID:32579787|PMID:4056805|PMID:8179305 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type ISO RGD:1604803 D RGD:7240710 20180130 OMIM 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type ISO RGD:1604803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PSEUDO-MORQUIO SYNDROME, TYPE 2 | ClinVar Annotator: match by term: SED, Maroteaux type | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia Maroteaux type PMID:12884428|PMID:14755468|PMID:17879966|PMID:19232556|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26249260|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28251916|PMID:28492532|PMID:29858556|PMID:30230566|PMID:30373780|PMID:4056805|PMID:6628444|PMID:8179305 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111554 spondylometaphyseal dysplasia Kozlowski type ISO RGD:1604803 D RGD:7240710 20180130 OMIM 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111554 spondylometaphyseal dysplasia Kozlowski type ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: SMD Kozlowski type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Kozlowski type PMID:10463355|PMID:17879966|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:21964574|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22689196|PMID:22702953|PMID:22851605|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25741868|PMID:25900305|PMID:26048687|PMID:26110311|PMID:26170305|PMID:26377240|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28166811|PMID:28251916|PMID:28492532|PMID:28687525|PMID:28898540|PMID:29776788|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31475037|PMID:32376792|PMID:32381727|PMID:34008892|PMID:4056805|PMID:8179305 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:0112295 spondylometaphyseal dysplasia ISO RGD:1604803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia PMID:28492532 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1604803 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:10463355|PMID:11891693|PMID:14755468|PMID:1520078|PMID:18587396|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25703509|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26048687|PMID:26110311|PMID:26249260|PMID:26467025|PMID:26948711|PMID:27330106|PMID:27751652|PMID:28492532|PMID:28898540|PMID:29858556|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31468327|PMID:32376792|PMID:4056805|PMID:8179305|PMID:956253 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1604803 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10463355|PMID:11891693|PMID:14755468|PMID:1520078|PMID:18587396|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25703509|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26048687|PMID:26110311|PMID:26249260|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27330106|PMID:27751652|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29858556|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31468327|PMID:32376792|PMID:4056805|PMID:8179305|PMID:956253 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1604803 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:10463355|PMID:11891693|PMID:14755468|PMID:1520078|PMID:18587396|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25703509|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26048687|PMID:26110311|PMID:26249260|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27330106|PMID:27751652|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29858556|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31468327|PMID:32376792|PMID:4056805|PMID:8179305|PMID:956253 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1604803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10463355|PMID:11891693|PMID:14755468|PMID:1520078|PMID:18587396|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25703509|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26048687|PMID:26110311|PMID:26249260|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27330106|PMID:27751652|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29770609|PMID:29858556|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31468327|PMID:32376792|PMID:4056805|PMID:8179305|PMID:956253 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1604803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10463355|PMID:11891693|PMID:14755468|PMID:1520078|PMID:16199547|PMID:18587396|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25703509|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26048687|PMID:26110311|PMID:26249260|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27330106|PMID:27751652|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29770609|PMID:29858556|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31468327|PMID:32376792|PMID:4056805|PMID:8179305|PMID:956253 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1604803 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10463355|PMID:11891693|PMID:14755468|PMID:1520078|PMID:16199547|PMID:18587396|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21270786|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25703509|PMID:25741868|PMID:25802885|PMID:25900305|PMID:25974703|PMID:26048687|PMID:26110311|PMID:26249260|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27330106|PMID:27751652|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29770609|PMID:29858556|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31468327|PMID:32376792|PMID:4056805|PMID:8179305|PMID:956253 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:11836 clubfoot ISO RGD:1604803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:20037587|PMID:20037588|PMID:21288981|PMID:21454511|PMID:24319099|PMID:24789864|PMID:25741868|PMID:28492532 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:12377 spinal muscular atrophy ISO RGD:1604803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:20037586|PMID:20037587|PMID:20037588|PMID:20460441|PMID:21336783|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28251916|PMID:28492532 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:2256 osteochondrodysplasia ISO RGD:1604803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18587396 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:2661 myoepithelioma ISO RGD:1604803 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:3070 high grade glioma ISO RGD:1604803 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:33629929 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1604803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245013 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:440 neuromuscular disease ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neuromuscular disease | ClinVar Annotator: match by term: Neuromuscular disorder PMID:12884428|PMID:1520078|PMID:15668982|PMID:18587396|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:22065612|PMID:22419508|PMID:22675077|PMID:22702953|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25703509|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26467025|PMID:26948711|PMID:27549087|PMID:27751652|PMID:28492532|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31041394|PMID:31191204|PMID:31468327|PMID:32579787|PMID:4056805|PMID:8179305 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:630 genetic disease ISO RGD:1604803 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11891693|PMID:14755468|PMID:15152081|PMID:1520078|PMID:15668982|PMID:17576681|PMID:17879966|PMID:18587396|PMID:19232556|PMID:19661060|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:21964574|PMID:22065612|PMID:22675077|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25363768|PMID:25741868|PMID:25900305|PMID:26046366|PMID:26110311|PMID:26170305|PMID:26249260|PMID:26377240|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27330106|PMID:27549087|PMID:27751652|PMID:28251916|PMID:28492532|PMID:28687525|PMID:28898540|PMID:29776788|PMID:29858556|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31041394|PMID:31191204|PMID:31468327|PMID:32028661|PMID:32376792|PMID:32381727|PMID:32579787|PMID:34008892|PMID:4056805|PMID:6628444|PMID:8179305|PMID:9536098|PMID:956253 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:65 connective tissue disease ISO RGD:1604803 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:19666518|PMID:22419508|PMID:22851605|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:8398 osteoarthritis ISO RGD:1604803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21964574 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:9000655 Hereditary Motor Neuropathy with Myopathic Features ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neuromyopathy PMID:12884428|PMID:1520078|PMID:18587396|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:22419508|PMID:22702953|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25703509|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28492532|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31468327|PMID:4056805|PMID:8179305 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:9002211 Hyperalgesia ISO RGD:1604803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18234883 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:9003049 Femur Head Necrosis ISO RGD:1604803 D RGD:7240710 20190315 OMIM 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:9003049 Femur Head Necrosis ISO RGD:1604803 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary, 2 PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20460441|PMID:21288981|PMID:21336783|PMID:21454511|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28251916|PMID:28492532|PMID:29858556|PMID:30230566|PMID:30373780|PMID:4056805|PMID:8179305 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:9003559 Brachyolmia Type 3 ISO RGD:1604803 D RGD:7240710 20180130 OMIM 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:9003559 Brachyolmia Type 3 ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brachyolmia Type 3 | ClinVar Annotator: match by term: Brachyolmia autosomal dominant PMID:18587396|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22419508|PMID:22689196|PMID:22702953|PMID:22851605|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25703509|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28166811|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31475037|PMID:32376792|PMID:4056805|PMID:8179305 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:9003919 Urination Disorders ISO RGD:1604803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20956320 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:9004825 Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal ISO RGD:1604803 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia and progressive central nervous system degeneration, lethal PMID:20425821|PMID:20577006|PMID:25741868 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:9006635 Hyponatremia ISO RGD:1604803 D RGD:7240710 20181003 OMIM 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:9006635 Hyponatremia ISO RGD:1604803 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sodium serum level quantitative trait locus 1 PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20460441|PMID:21288981|PMID:21336783|PMID:21454511|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28251916|PMID:28492532|PMID:29858556|PMID:30230566|PMID:30373780|PMID:4056805|PMID:8179305 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:9006934 Digital Arthropathy-Brachydactyly, Familial ISO RGD:1604803 D RGD:7240710 20180130 OMIM 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:9006934 Digital Arthropathy-Brachydactyly, Familial ISO RGD:1604803 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial digital arthropathy-brachydactyly PMID:11891693|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20460441|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21964574|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28251916|PMID:28492532|PMID:29858556|PMID:30230566|PMID:30373780|PMID:4056805|PMID:8179305 12381920 TRPV4 transient receptor potential cation channel subfamily V member 4 gene DOID:9008855 Brachyolmia Type 2 ISO RGD:1604803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia Maroteaux type PMID:12884428|PMID:14755468|PMID:17879966|PMID:19232556|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26249260|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28251916|PMID:28492532|PMID:29858556|PMID:30230566|PMID:30373780|PMID:4056805|PMID:6628444|PMID:8179305 12381948 FOXJ2 forkhead box J2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1344904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12381948 FOXJ2 forkhead box J2 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1344904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12381948 FOXJ2 forkhead box J2 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1344904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12381948 FOXJ2 forkhead box J2 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1344904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12381948 FOXJ2 forkhead box J2 gene DOID:0111621 Temtamy syndrome ISO RGD:1344904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12381948 FOXJ2 forkhead box J2 gene DOID:630 genetic disease ISO RGD:1344904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381948 FOXJ2 forkhead box J2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1344904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12381969 RUNX1T1 RUNX1 partner transcriptional co-repressor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:1350261 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 12381969 RUNX1T1 RUNX1 partner transcriptional co-repressor 1 gene DOID:630 genetic disease ISO RGD:1350261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381969 RUNX1T1 RUNX1 partner transcriptional co-repressor 1 gene DOID:9007661 Dwarfism ISO RGD:1350261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12381969 RUNX1T1 RUNX1 partner transcriptional co-repressor 1 gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:1350261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 12381969 RUNX1T1 RUNX1 partner transcriptional co-repressor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1350261 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229|PMID:27798625 12381985 LOC487176 protocadherin beta-18 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1346313 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12381985 LOC487176 protocadherin beta-18 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346313 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12381985 LOC487176 protocadherin beta-18 gene DOID:630 genetic disease ISO RGD:1346313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381985 LOC487176 protocadherin beta-18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346313 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12381985 LOC487176 protocadherin beta-18 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346313 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12381990 ETS2 ETS proto-oncogene 2, transcription factor gene DOID:3042 allergic contact dermatitis ISO RGD:1352353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 12381990 ETS2 ETS proto-oncogene 2, transcription factor gene DOID:630 genetic disease ISO RGD:1352353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12381990 ETS2 ETS proto-oncogene 2, transcription factor gene DOID:9002955 Nerve Degeneration ISO RGD:1352353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19522546 12381990 ETS2 ETS proto-oncogene 2, transcription factor gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1352353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19764029 12381990 ETS2 ETS proto-oncogene 2, transcription factor gene DOID:9008939 Breast Neoplasms ISO RGD:1352353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 12382007 SLC45A1 solute carrier family 45 member 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:731828 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12382007 SLC45A1 solute carrier family 45 member 1 gene DOID:1826 epilepsy ISO RGD:731828 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12382007 SLC45A1 solute carrier family 45 member 1 gene DOID:630 genetic disease ISO RGD:731828 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12382007 SLC45A1 solute carrier family 45 member 1 gene DOID:9003344 INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES ISO RGD:731828 D RGD:7240710 20190315 OMIM 12382007 SLC45A1 solute carrier family 45 member 1 gene DOID:9003344 INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES ISO RGD:731828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with neuropsychiatric features PMID:25741868|PMID:28434495 12382007 SLC45A1 solute carrier family 45 member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12382027 PTCHD1 patched domain containing 1 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1352131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 12382027 PTCHD1 patched domain containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1352131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12382027 PTCHD1 patched domain containing 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12382027 PTCHD1 patched domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1352131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12382027 PTCHD1 patched domain containing 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1615725 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 12382027 PTCHD1 patched domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1352131 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 4 PMID:20844286|PMID:21114665|PMID:21681106|PMID:23871722|PMID:25131214|PMID:25741868|PMID:26539891|PMID:30208311 12382027 PTCHD1 patched domain containing 1 gene DOID:12849 autistic disorder susceptibility ISO RGD:1352131 D RGD:7240710 20190502 OMIM 12382027 PTCHD1 patched domain containing 1 gene DOID:13938 amenorrhea ISO RGD:1352131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12382027 PTCHD1 patched domain containing 1 gene DOID:630 genetic disease ISO RGD:1352131 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20844286|PMID:21114665|PMID:23871722|PMID:25741868|PMID:25782667|PMID:27007844|PMID:28492532|PMID:29118110|PMID:30166346 12382027 PTCHD1 patched domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12382027 PTCHD1 patched domain containing 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1352131 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21091464 12382027 PTCHD1 patched domain containing 1 gene DOID:9008582 Developmental Disease ISO RGD:1352131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12382035 MAMDC2 MAM domain containing 2 gene DOID:10283 prostate cancer ISO RGD:1312980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12382035 MAMDC2 MAM domain containing 2 gene DOID:630 genetic disease ISO RGD:1312980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382059 RITA1 RBPJ interacting and tubulin associated 1 gene DOID:630 genetic disease ISO RGD:1602853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382067 ARL6 ADP ribosylation factor like GTPase 6 gene DOID:0050572 cone-rod dystrophy ISO RGD:1313618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868 12382067 ARL6 ADP ribosylation factor like GTPase 6 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1313618 D RGD:7240710 20180130 OMIM 12382067 ARL6 ADP ribosylation factor like GTPase 6 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1313618 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of PMID:15258860|PMID:15314642|PMID:19236846|PMID:19858128|PMID:20142850|PMID:22334370|PMID:25741868|PMID:26355662|PMID:27124789|PMID:27486776|PMID:28005406|PMID:28130426|PMID:28492532|PMID:31054281|PMID:31736247|PMID:32906206|PMID:33090715|PMID:35457050|PMID:9714014 12382067 ARL6 ADP ribosylation factor like GTPase 6 gene DOID:0110125 Bardet-Biedl syndrome 3 ISO RGD:1313618 D RGD:7240710 20180130 OMIM 12382067 ARL6 ADP ribosylation factor like GTPase 6 gene DOID:0110125 Bardet-Biedl syndrome 3 ISO RGD:1313618 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 3 PMID:15258860|PMID:15314642|PMID:16199547|PMID:17160889|PMID:17576681|PMID:19236846|PMID:19858128|PMID:20142850|PMID:20177705|PMID:20498079|PMID:22334370|PMID:22410627|PMID:23219996|PMID:24400638|PMID:25741868|PMID:26355662|PMID:27124789|PMID:27383656|PMID:27486776|PMID:27708425|PMID:28005406|PMID:28041643|PMID:28130426|PMID:28492532|PMID:29806606|PMID:31054281|PMID:31456290|PMID:31736247|PMID:32361989|PMID:32906206|PMID:33090715|PMID:33946315|PMID:34716235|PMID:35457050|PMID:7987310|PMID:8298649|PMID:9536098|PMID:9714014 12382067 ARL6 ADP ribosylation factor like GTPase 6 gene DOID:0110370 retinitis pigmentosa 55 ISO RGD:1313618 D RGD:7240710 20180130 OMIM 12382067 ARL6 ADP ribosylation factor like GTPase 6 gene DOID:0110370 retinitis pigmentosa 55 ISO RGD:1313618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 55 PMID:15258860|PMID:19858128|PMID:19956407|PMID:20142850|PMID:21282186|PMID:22334370|PMID:27486776|PMID:28492532|PMID:31736247 12382067 ARL6 ADP ribosylation factor like GTPase 6 gene DOID:10584 retinitis pigmentosa ISO RGD:1313618 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15314642|PMID:17160889|PMID:19236846|PMID:19858128|PMID:19956407|PMID:20177705|PMID:20498079|PMID:21282186|PMID:22410627|PMID:23219996|PMID:25741868|PMID:26355662|PMID:27124789|PMID:28005406|PMID:28041643|PMID:28130426|PMID:28492532|PMID:32906206|PMID:33090715|PMID:33946315|PMID:35457050 12382067 ARL6 ADP ribosylation factor like GTPase 6 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:15258860|PMID:19858128|PMID:20142850|PMID:22334370|PMID:22773737|PMID:25741868|PMID:26355662|PMID:27124789|PMID:27486776|PMID:28005406|PMID:28130426|PMID:28492532|PMID:31456290|PMID:31736247|PMID:32531858|PMID:32906206|PMID:33090715|PMID:35457050|PMID:7987310|PMID:8298649 12382067 ARL6 ADP ribosylation factor like GTPase 6 gene DOID:630 genetic disease ISO RGD:1313618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12382067 ARL6 ADP ribosylation factor like GTPase 6 gene DOID:9008296 Eye Abnormalities ISO RGD:1313618 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 12382097 SCARF2 scavenger receptor class F member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12382097 SCARF2 scavenger receptor class F member 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1314385 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12382097 SCARF2 scavenger receptor class F member 2 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1314385 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12382097 SCARF2 scavenger receptor class F member 2 gene DOID:0111699 Van den Ende-Gupta syndrome ISO RGD:1314385 D RGD:7240710 20180130 OMIM 12382097 SCARF2 scavenger receptor class F member 2 gene DOID:0111699 Van den Ende-Gupta syndrome ISO RGD:1314385 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Van den Ende-Gupta syndrome PMID:20887961|PMID:21108395|PMID:23808541|PMID:24478002|PMID:25741868|PMID:28492532|PMID:33783941 12382097 SCARF2 scavenger receptor class F member 2 gene DOID:1059 intellectual disability ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12382097 SCARF2 scavenger receptor class F member 2 gene DOID:10907 microcephaly ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12382097 SCARF2 scavenger receptor class F member 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1314385 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12382097 SCARF2 scavenger receptor class F member 2 gene DOID:11372 megacolon ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12382097 SCARF2 scavenger receptor class F member 2 gene DOID:12583 velocardiofacial syndrome ISO RGD:1314385 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12382097 SCARF2 scavenger receptor class F member 2 gene DOID:12849 autistic disorder ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12382097 SCARF2 scavenger receptor class F member 2 gene DOID:1826 epilepsy ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12382097 SCARF2 scavenger receptor class F member 2 gene DOID:2213 hemorrhagic disease ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 12382097 SCARF2 scavenger receptor class F member 2 gene DOID:5419 schizophrenia ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12382097 SCARF2 scavenger receptor class F member 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12382097 SCARF2 scavenger receptor class F member 2 gene DOID:630 genetic disease ISO RGD:1314385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12382097 SCARF2 scavenger receptor class F member 2 gene DOID:9003871 Venous Thrombosis ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 12382097 SCARF2 scavenger receptor class F member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12382097 SCARF2 scavenger receptor class F member 2 gene DOID:9007661 Dwarfism ISO RGD:1314385 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12382097 SCARF2 scavenger receptor class F member 2 gene DOID:9008964 Spermatogenic Failure 52 IAGP D RGD:12801476 20230208 OMIA Van den Ende-Gupta syndrome PMID:27187611|PMID:27803843 12382136 CAVIN1 caveolae associated protein 1 gene DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 ISO RGD:1317017 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive PMID:28492532 12382136 CAVIN1 caveolae associated protein 1 gene DOID:0111138 congenital generalized lipodystrophy type 4 ISO RGD:1317017 D RGD:7240710 20180130 OMIM 12382136 CAVIN1 caveolae associated protein 1 gene DOID:0111138 congenital generalized lipodystrophy type 4 ISO RGD:1317017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 4 PMID:12116229|PMID:18698612|PMID:19726876|PMID:20300641|PMID:20684003|PMID:25741868|PMID:26467025|PMID:28492532 12382136 CAVIN1 caveolae associated protein 1 gene DOID:14749 methylmalonic acidemia ISO RGD:1317017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 12382136 CAVIN1 caveolae associated protein 1 gene DOID:3261 hyper IgE recurrent infection syndrome 1 ISO RGD:1317017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1 PMID:28492532 12382136 CAVIN1 caveolae associated protein 1 gene DOID:630 genetic disease ISO RGD:1317017 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12382136 CAVIN1 caveolae associated protein 1 gene DOID:6432 pulmonary hypertension ISO RGD:1317018 D RGD:9068941 20220825 MouseDO OMIM:615371 12382136 CAVIN1 caveolae associated protein 1 gene DOID:9004657 Weight Gain ISO RGD:1317017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12382136 CAVIN1 caveolae associated protein 1 gene DOID:9351 diabetes mellitus ISO RGD:1317017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 12382145 TUBB4A tubulin beta 4A class IVa gene DOID:0060798 hypomyelinating leukodystrophy 6 ISO RGD:1348861 D RGD:7240710 20180130 OMIM 12382145 TUBB4A tubulin beta 4A class IVa gene DOID:0060798 hypomyelinating leukodystrophy 6 ISO RGD:1348861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 6 PMID:16707859|PMID:18466252|PMID:18851904|PMID:23190606|PMID:23424103|PMID:23582646|PMID:23595291|PMID:24088041|PMID:24526230|PMID:24706558|PMID:24742798|PMID:24785942|PMID:24850488|PMID:24974158|PMID:25085639|PMID:25168210|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25497598|PMID:25545912|PMID:25697102|PMID:25741868|PMID:25772097|PMID:26633545|PMID:26643067|PMID:26795593|PMID:27538619|PMID:28275661|PMID:28492532|PMID:28592043|PMID:28791129|PMID:28973395|PMID:29451896|PMID:30079973|PMID:3156966|PMID:31692161|PMID:32581362|PMID:33027950|PMID:3405308|PMID:7983175 12382145 TUBB4A tubulin beta 4A class IVa gene DOID:0080490 mucolipidosis type IV ISO RGD:1348861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12382145 TUBB4A tubulin beta 4A class IVa gene DOID:0090041 torsion dystonia 4 ISO RGD:1348861 D RGD:7240710 20180130 OMIM 12382145 TUBB4A tubulin beta 4A class IVa gene DOID:0090041 torsion dystonia 4 ISO RGD:1348861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Torsion dystonia 4 PMID:16707859|PMID:18466252|PMID:18851904|PMID:23424103|PMID:23582646|PMID:23595291|PMID:24526230|PMID:24706558|PMID:24785942|PMID:24850488|PMID:25085639|PMID:25326635|PMID:25545912|PMID:25741868|PMID:26643067|PMID:28275661|PMID:28492532|PMID:28973395|PMID:30079973|PMID:3156966|PMID:3405308|PMID:7983175 12382145 TUBB4A tubulin beta 4A class IVa gene DOID:10907 microcephaly ISO RGD:1348861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25085639|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28973395|PMID:32581362 12382145 TUBB4A tubulin beta 4A class IVa gene DOID:1969 cerebral palsy ISO RGD:1348861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:18851904|PMID:24526230|PMID:24850488|PMID:25085639|PMID:25326637|PMID:25741868|PMID:28275661|PMID:28492532|PMID:28973395|PMID:32581362 12382145 TUBB4A tubulin beta 4A class IVa gene DOID:3213 demyelinating disease ISO RGD:619730 D RGD:9068941 20210910 RGD DNA:missense mutation:cds:p.Ala302Thr (rat) PMID:28393430|REF_RGD_ID:150429639 12382145 TUBB4A tubulin beta 4A class IVa gene DOID:543 dystonia ISO RGD:1348861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder 12382145 TUBB4A tubulin beta 4A class IVa gene DOID:630 genetic disease ISO RGD:1348861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22791712|PMID:24706558|PMID:24742798|PMID:24850488|PMID:24974158|PMID:25085639|PMID:25168210|PMID:25326637|PMID:25356970|PMID:25741868|PMID:26795593|PMID:28275661|PMID:28393430|PMID:28492532|PMID:28973395|PMID:29451896|PMID:32581362 12382145 TUBB4A tubulin beta 4A class IVa gene DOID:9006534 Nervous System Malformations ISO RGD:1348861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16707859|PMID:18466252|PMID:23582646|PMID:24706558|PMID:24785942|PMID:24850488|PMID:25326635|PMID:25545912|PMID:25741868|PMID:28492532|PMID:28973395|PMID:30079973|PMID:7983175 12382145 TUBB4A tubulin beta 4A class IVa gene DOID:9008086 Developmental Disabilities ISO RGD:1348861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:18851904|PMID:24526230|PMID:24785942|PMID:24850488|PMID:25741868|PMID:28275661|PMID:28492532|PMID:32581362 12382153 ATP13A4 ATPase 13A4 gene DOID:3529 central core disease ISO RGD:1346317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:25741868 12382153 ATP13A4 ATPase 13A4 gene DOID:5419 schizophrenia ISO RGD:1346317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12382153 ATP13A4 ATPase 13A4 gene DOID:630 genetic disease ISO RGD:1346317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12382209 LOC100856429 uncharacterized LOC100856429 gene DOID:0080054 achondrogenesis type IA ISO RGD:1344927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12382209 LOC100856429 uncharacterized LOC100856429 gene DOID:0081063 DICER1 syndrome ISO RGD:1344927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 12382209 LOC100856429 uncharacterized LOC100856429 gene DOID:630 genetic disease ISO RGD:1344927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382255 RAB4B RAB4B, member RAS oncogene family gene DOID:1339 Diamond-Blackfan anemia ISO RGD:733928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:28492532 12382255 RAB4B RAB4B, member RAS oncogene family gene DOID:1342 congenital hypoplastic anemia ISO RGD:733928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12382255 RAB4B RAB4B, member RAS oncogene family gene DOID:2340 craniosynostosis ISO RGD:733928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12382255 RAB4B RAB4B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:733928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382255 RAB4B RAB4B, member RAS oncogene family gene DOID:9002304 Prostatic Neoplasms ISO RGD:733928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12382255 RAB4B RAB4B, member RAS oncogene family gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:733928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12382255 RAB4B RAB4B, member RAS oncogene family gene DOID:9269 maple syrup urine disease ISO RGD:733928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12382274 RMND5B required for meiotic nuclear division 5 homolog B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12382274 RMND5B required for meiotic nuclear division 5 homolog B gene DOID:0070015 autosomal recessive dyskeratosis congenita 1 ISO RGD:1604317 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 PMID:18523010|PMID:20301779|PMID:25741868|PMID:28492532 12382274 RMND5B required for meiotic nuclear division 5 homolog B gene DOID:0070017 autosomal recessive dyskeratosis congenita 2 ISO RGD:1604317 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2 PMID:18523010|PMID:20301779|PMID:25741868|PMID:28492532 12382274 RMND5B required for meiotic nuclear division 5 homolog B gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1604317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12382274 RMND5B required for meiotic nuclear division 5 homolog B gene DOID:0112103 Sotos syndrome 1 ISO RGD:1604317 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12382274 RMND5B required for meiotic nuclear division 5 homolog B gene DOID:2729 dyskeratosis congenita ISO RGD:1604317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18523010|PMID:25741868|PMID:28492532 12382274 RMND5B required for meiotic nuclear division 5 homolog B gene DOID:630 genetic disease ISO RGD:1604317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382274 RMND5B required for meiotic nuclear division 5 homolog B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604317 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12382292 RPL10A ribosomal protein L10a gene DOID:0050553 JMP syndrome ISO RGD:732410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12382292 RPL10A ribosomal protein L10a gene DOID:3910 lung adenocarcinoma ISO RGD:732410 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12382292 RPL10A ribosomal protein L10a gene DOID:630 genetic disease ISO RGD:732410 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382292 RPL10A ribosomal protein L10a gene DOID:9006205 Animal Disease Models ISO RGD:732410 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12382306 SF3B6 splicing factor 3b subunit 6 gene DOID:630 genetic disease ISO RGD:1602118 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382314 PPP1R14B protein phosphatase 1 regulatory inhibitor subunit 14B gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1344402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12382314 PPP1R14B protein phosphatase 1 regulatory inhibitor subunit 14B gene DOID:1059 intellectual disability ISO RGD:1344402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12382314 PPP1R14B protein phosphatase 1 regulatory inhibitor subunit 14B gene DOID:1909 melanoma ISO RGD:1344402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12382314 PPP1R14B protein phosphatase 1 regulatory inhibitor subunit 14B gene DOID:3070 high grade glioma ISO RGD:1344402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12382314 PPP1R14B protein phosphatase 1 regulatory inhibitor subunit 14B gene DOID:630 genetic disease ISO RGD:1344402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382322 KLHL42 kelch like family member 42 gene DOID:630 genetic disease ISO RGD:1348247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382329 BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 gene DOID:0112224 chondrodysplasia with joint dislocations gPAPP type ISO RGD:1603038 D RGD:7240710 20180130 OMIM 12382329 BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 gene DOID:0112224 chondrodysplasia with joint dislocations gPAPP type ISO RGD:1603038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondrodysplasia with joint dislocations, gPAPP type PMID:21549340|PMID:21834032|PMID:22887726|PMID:25741868|PMID:28492532|PMID:31130284 12382329 BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 gene DOID:2256 osteochondrodysplasia ISO RGD:1603038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondrodysplasia 12382329 BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 gene DOID:630 genetic disease ISO RGD:1603038 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12382338 SYT17 synaptotagmin 17 gene DOID:630 genetic disease ISO RGD:734045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382367 APCDD1 APC down-regulated 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1351282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12382367 APCDD1 APC down-regulated 1 gene DOID:0110698 hypotrichosis 1 ISO RGD:1351282 D RGD:7240710 20180130 OMIM 12382367 APCDD1 APC down-regulated 1 gene DOID:0110698 hypotrichosis 1 ISO RGD:1351282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotrichosis 1 PMID:10878665|PMID:20393562|PMID:22512811 12382367 APCDD1 APC down-regulated 1 gene DOID:1059 intellectual disability ISO RGD:1351282 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12382367 APCDD1 APC down-regulated 1 gene DOID:543 dystonia ISO RGD:1351282 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 12382367 APCDD1 APC down-regulated 1 gene DOID:630 genetic disease ISO RGD:1351282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382367 APCDD1 APC down-regulated 1 gene DOID:9970 obesity ISO RGD:1351282 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28242765 12382382 FGF4 fibroblast growth factor 4 gene DOID:1059 intellectual disability ISO RGD:1343486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12382382 FGF4 fibroblast growth factor 4 gene DOID:630 genetic disease ISO RGD:1343486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382382 FGF4 fibroblast growth factor 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1343486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25822088 12382382 FGF4 fibroblast growth factor 4 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1343486 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12382382 FGF4 fibroblast growth factor 4 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1343486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12382382 FGF4 fibroblast growth factor 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1343486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21936542 12382382 FGF4 retrogene on CFA12 fibroblast growth factor 4 gene DOID:9004883 Pilonidal Sinus IAGP D RGD:12801476 20220921 OMIA Dermoid sinus PMID:5951011|PMID:7603060|PMID:11002937|PMID:17906623|PMID:17906626|PMID:18704695|PMID:10713979|PMID:16573760|PMID:15736812|PMID:1481220|PMID:2642687|PMID:17422670|PMID:256350|PMID:4919487|PMID:26401330|PMID:35067986|PMID:24593884|PMID:33025601|PMID:35150843 12382389 UBE2C ubiquitin conjugating enzyme E2 C gene DOID:0080600 COVID-19 ISO RGD:1313378 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12382389 UBE2C ubiquitin conjugating enzyme E2 C gene DOID:2234 focal epilepsy ISO RGD:1313378 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12382389 UBE2C ubiquitin conjugating enzyme E2 C gene DOID:630 genetic disease ISO RGD:1313378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382389 UBE2C ubiquitin conjugating enzyme E2 C gene DOID:684 hepatocellular carcinoma ISO RGD:1313378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12382389 UBE2C ubiquitin conjugating enzyme E2 C gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313378 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12382389 UBE2C ubiquitin conjugating enzyme E2 C gene DOID:9004814 Chromosome Aberrations ISO RGD:1313378 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27129209 12382389 UBE2C ubiquitin conjugating enzyme E2 C gene DOID:9008939 Breast Neoplasms ISO RGD:1313378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 12382402 GATA5 GATA binding protein 5 gene DOID:0050650 familial atrial fibrillation ISO RGD:1354270 D RGD:9068941 20221006 RGD DNA:mutations:cds: c.413A>T(p.Y138F), c.628T>G (p.C210G)(human) PMID:23295592|REF_RGD_ID:155260349 12382402 GATA5 GATA binding protein 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12382402 GATA5 GATA binding protein 5 gene DOID:0060224 atrial fibrillation ISO RGD:1354270 D RGD:9068941 20221006 RGD DNA:mutation:cds:c.598T>G (p.W200G)(human) PMID:23175127|REF_RGD_ID:155260351 12382402 GATA5 GATA binding protein 5 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1354270 D RGD:9068941 20221006 RGD DNA:mutations:cds:c.46T>G (p.Y16D), c.754A>C ((p.T252P)(human) PMID:24638895|REF_RGD_ID:155260354 12382402 GATA5 GATA binding protein 5 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1558341 D RGD:9068941 20230427 RGD PMID:22536403|REF_RGD_ID:329337340 12382402 GATA5 GATA binding protein 5 gene DOID:0080332 bicuspid aortic valve disease exacerbates ISO RGD:1558341 D RGD:9068941 20221006 RGD PMID:21633169|REF_RGD_ID:155260352 12382402 GATA5 GATA binding protein 5 gene DOID:0080333 aortic valve disease 1 ISO RGD:1354270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic valve disease 1 PMID:28387797|PMID:28492532|PMID:30675029 12382402 GATA5 GATA binding protein 5 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1354270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12382402 GATA5 GATA binding protein 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1354270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12382402 GATA5 GATA binding protein 5 gene DOID:10763 hypertension susceptibility ISO RGD:1354270 D RGD:9068941 20221006 RGD DNA:SNPs:intron, exon:rs6061245,rs6587239 (human) PMID:26617239|REF_RGD_ID:11343485 12382402 GATA5 GATA binding protein 5 gene DOID:10825 essential hypertension ISO RGD:1558341 D RGD:9068941 20220825 MouseDO OMIM:145500 | OMIM:603918 | OMIM:604329 | OMIM:607329 | OMIM:608742 | OMIM:610261 | OMIM:610262 | OMIM:610948 | OMIM:611014 12382402 GATA5 GATA binding protein 5 gene DOID:10825 essential hypertension ISO RGD:1558341 D RGD:9068941 20221006 RGD PMID:26617239|REF_RGD_ID:11343485 12382402 GATA5 GATA binding protein 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:1354270 D RGD:9068941 20221006 RGD DNA:mutation:cds;c.719G>A(p.Gly240Asp)(human) PMID:25543888|REF_RGD_ID:155260333 12382402 GATA5 GATA binding protein 5 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1354270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:22641149|PMID:28492532 12382402 GATA5 GATA binding protein 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1354270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12382402 GATA5 GATA binding protein 5 gene DOID:1657 ventricular septal defect ISO RGD:1354270 D RGD:9068941 20221006 RGD DNA:mutation:cds:c.595C>G (p.L199V)(human) PMID:22961344|REF_RGD_ID:155260356 12382402 GATA5 GATA binding protein 5 gene DOID:1657 ventricular septal defect ISO RGD:1558341 D RGD:9068941 20230427 RGD PMID:22536403|REF_RGD_ID:329337340 12382402 GATA5 GATA binding protein 5 gene DOID:630 genetic disease ISO RGD:1354270 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22641149|PMID:23040494|PMID:25741868|PMID:27066509|PMID:28180938|PMID:28492532 12382402 GATA5 GATA binding protein 5 gene DOID:6419 tetralogy of Fallot ISO RGD:1354270 D RGD:9068941 20221006 RGD DNA:mutations:cds:c.559C>G,p.R187G, c.620A>G, p.H207R (human) PMID:23289003|REF_RGD_ID:155260350 12382402 GATA5 GATA binding protein 5 gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:1354270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arterial dissection PMID:28492532 12382402 GATA5 GATA binding protein 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1354270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19509152 12382402 GATA5 GATA binding protein 5 gene DOID:9009140 Congenital Heart Defects, Multiple Types, 5 ISO RGD:1354270 D RGD:7240710 20190612 OMIM 12382402 GATA5 GATA binding protein 5 gene DOID:9009140 Congenital Heart Defects, Multiple Types, 5 ISO RGD:1354270 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 5 PMID:22641149|PMID:22961344|PMID:23031282|PMID:23040494|PMID:23175127|PMID:24638895|PMID:25741868|PMID:27066509|PMID:28180938|PMID:28492532 12382402 GATA5 GATA binding protein 5 gene DOID:9408 acute myocardial infarction susceptibility ISO RGD:1354270 D RGD:9068941 20221006 RGD DNA:SNPs:promoter:rs80197101, rs77067995 (human) PMID:33684162|REF_RGD_ID:155260335 12382412 AIFM3 apoptosis inducing factor mitochondria associated 3 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1604991 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12382412 AIFM3 apoptosis inducing factor mitochondria associated 3 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1604991 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12382412 AIFM3 apoptosis inducing factor mitochondria associated 3 gene DOID:1059 intellectual disability ISO RGD:1604991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12382412 AIFM3 apoptosis inducing factor mitochondria associated 3 gene DOID:11198 DiGeorge syndrome ISO RGD:1604991 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12382412 AIFM3 apoptosis inducing factor mitochondria associated 3 gene DOID:11372 megacolon ISO RGD:1604991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12382412 AIFM3 apoptosis inducing factor mitochondria associated 3 gene DOID:12583 velocardiofacial syndrome ISO RGD:1604991 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12382412 AIFM3 apoptosis inducing factor mitochondria associated 3 gene DOID:12849 autistic disorder ISO RGD:1604991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12382412 AIFM3 apoptosis inducing factor mitochondria associated 3 gene DOID:1826 epilepsy ISO RGD:1604991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12382412 AIFM3 apoptosis inducing factor mitochondria associated 3 gene DOID:5419 schizophrenia ISO RGD:1604991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12382412 AIFM3 apoptosis inducing factor mitochondria associated 3 gene DOID:612 primary immunodeficiency disease ISO RGD:1604991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12382412 AIFM3 apoptosis inducing factor mitochondria associated 3 gene DOID:630 genetic disease ISO RGD:1604991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382412 AIFM3 apoptosis inducing factor mitochondria associated 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12382412 AIFM3 apoptosis inducing factor mitochondria associated 3 gene DOID:9007661 Dwarfism ISO RGD:1604991 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12382436 NFE2 nuclear factor, erythroid 2 gene DOID:630 genetic disease ISO RGD:1315759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382436 NFE2 nuclear factor, erythroid 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12382455 NKX6-1 NK6 homeobox 1 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1346979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 12382455 NKX6-1 NK6 homeobox 1 gene DOID:630 genetic disease ISO RGD:1346979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382455 NKX6-1 NK6 homeobox 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:69318 D RGD:9068941 20200609 RGD PMID:18687784|REF_RGD_ID:2311166 12382455 NKX6-1 NK6 homeobox 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1346979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12382455 NKX6-1 NK6 homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12382461 DMP1 dentin matrix acidic phosphoprotein 1 gene DOID:0050949 autosomal recessive hypophosphatemic rickets ISO RGD:736576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive 12382461 DMP1 dentin matrix acidic phosphoprotein 1 gene DOID:630 genetic disease ISO RGD:736576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12382461 DMP1 dentin matrix acidic phosphoprotein 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12382461 DMP1 dentin matrix acidic phosphoprotein 1 gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:736576 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:24033266|PMID:25741868|PMID:35738466 12382461 DMP1 dentin matrix acidic phosphoprotein 1 gene DOID:9001514 Hypophosphatemic Rickets, Autosomal Recessive, 1 ISO RGD:736576 D RGD:7240710 20180130 OMIM 12382461 DMP1 dentin matrix acidic phosphoprotein 1 gene DOID:9001514 Hypophosphatemic Rickets, Autosomal Recessive, 1 ISO RGD:736576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 1 PMID:16199547|PMID:16294270|PMID:17033621|PMID:17033625|PMID:17576681|PMID:19007919|PMID:21050253|PMID:25741868|PMID:28492532|PMID:9536098 12382474 TBR1 T-box brain transcription factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1557526 D RGD:9068941 20220825 MouseDO 12382474 TBR1 T-box brain transcription factor 1 gene DOID:0070056 autosomal dominant intellectual developmental disorder 26 ISO RGD:1343708 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder due to AUTS2 deficiency PMID:25741868 12382474 TBR1 T-box brain transcription factor 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1343708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cortical dysplasia PMID:25741868 12382474 TBR1 T-box brain transcription factor 1 gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1343708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gait disturbance PMID:25741868 12382474 TBR1 T-box brain transcription factor 1 gene DOID:1059 intellectual disability ISO RGD:1343708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12382474 TBR1 T-box brain transcription factor 1 gene DOID:12849 autistic disorder ISO RGD:1343708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 12382474 TBR1 T-box brain transcription factor 1 gene DOID:1826 epilepsy ISO RGD:1343708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12382474 TBR1 T-box brain transcription factor 1 gene DOID:630 genetic disease ISO RGD:1343708 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12382474 TBR1 T-box brain transcription factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12382474 TBR1 T-box brain transcription factor 1 gene DOID:9004695 Intellectual Developmental Disorder with Autism and Speech Delay ISO RGD:1343708 D RGD:7240710 20210224 OMIM 12382474 TBR1 T-box brain transcription factor 1 gene DOID:9004695 Intellectual Developmental Disorder with Autism and Speech Delay ISO RGD:1343708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AUTS5 | ClinVar Annotator: match by term: Autism, susceptibility to, 5 PMID:11353400|PMID:25232744|PMID:25741868|PMID:28492532|PMID:30250039 12382474 TBR1 T-box brain transcription factor 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1343708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868 12382474 TBR1 T-box brain transcription factor 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1343708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12382484 CCDC150 coiled-coil domain containing 150 gene DOID:630 genetic disease ISO RGD:1606406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382484 CCDC150 coiled-coil domain containing 150 gene DOID:684 hepatocellular carcinoma ISO RGD:1606406 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 12382484 CCDC150 coiled-coil domain containing 150 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12382530 ASB7 ankyrin repeat and SOCS box containing 7 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1313017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 12382530 ASB7 ankyrin repeat and SOCS box containing 7 gene DOID:630 genetic disease ISO RGD:1313017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382530 ASB7 ankyrin repeat and SOCS box containing 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12382540 ARHGAP32 Rho GTPase activating protein 32 gene DOID:0060041 autism spectrum disorder ISO RGD:1313195 D RGD:9068941 20220825 MouseDO 12382540 ARHGAP32 Rho GTPase activating protein 32 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1605412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12382540 ARHGAP32 Rho GTPase activating protein 32 gene DOID:3070 high grade glioma ISO RGD:1605412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12382540 ARHGAP32 Rho GTPase activating protein 32 gene DOID:5419 schizophrenia ISO RGD:1605412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12382540 ARHGAP32 Rho GTPase activating protein 32 gene DOID:630 genetic disease ISO RGD:1605412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382540 ARHGAP32 Rho GTPase activating protein 32 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12382540 ARHGAP32 Rho GTPase activating protein 32 gene DOID:9007661 Dwarfism ISO RGD:1605412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12382577 ZSCAN10 zinc finger and SCAN domain containing 10 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1321829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12382577 ZSCAN10 zinc finger and SCAN domain containing 10 gene DOID:10003 sensorineural hearing loss ISO RGD:1321829 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 12382577 ZSCAN10 zinc finger and SCAN domain containing 10 gene DOID:1826 epilepsy ISO RGD:1321829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12382577 ZSCAN10 zinc finger and SCAN domain containing 10 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1321829 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12382577 ZSCAN10 zinc finger and SCAN domain containing 10 gene DOID:630 genetic disease ISO RGD:1321829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382587 SRSF11 serine and arginine rich splicing factor 11 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1343968 D RGD:9068941 20200609 RGD mRNA:splice variant:bone marrow, hematopoietic stem cell (human) PMID:24244432|REF_RGD_ID:11038800 12382587 SRSF11 serine and arginine rich splicing factor 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1343968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12382587 SRSF11 serine and arginine rich splicing factor 11 gene DOID:1059 intellectual disability ISO RGD:1343968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12382587 SRSF11 serine and arginine rich splicing factor 11 gene DOID:630 genetic disease ISO RGD:1343968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382601 SOCS7 suppressor of cytokine signaling 7 gene DOID:4001 ovarian carcinoma ISO RGD:1317076 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:30365097 12382601 SOCS7 suppressor of cytokine signaling 7 gene DOID:630 genetic disease ISO RGD:1317076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382616 PEX12 peroxisomal biogenesis factor 12 gene DOID:0050444 infantile Refsum disease ISO RGD:731687 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile Refsum's disease PMID:10527683|PMID:10562279|PMID:10837480|PMID:12032265|PMID:14571262|PMID:14630978|PMID:15184617|PMID:15241794|PMID:15542397|PMID:16199547|PMID:17576681|PMID:19105186|PMID:19127411|PMID:19877282|PMID:21031596|PMID:21465523|PMID:24627108|PMID:25287621|PMID:25741868|PMID:26094004|PMID:28492532|PMID:29389947|PMID:9090384|PMID:9536098|PMID:9632816|PMID:9792857 12382616 PEX12 peroxisomal biogenesis factor 12 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:731687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9090384 12382616 PEX12 peroxisomal biogenesis factor 12 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:731687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) PMID:28492532 12382616 PEX12 peroxisomal biogenesis factor 12 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:731687 D RGD:7240710 20180130 OMIM 12382616 PEX12 peroxisomal biogenesis factor 12 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:731687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:10527683|PMID:10562279|PMID:10837480|PMID:11370741|PMID:12032265|PMID:14571262|PMID:14630978|PMID:15184617|PMID:15241794|PMID:15542397|PMID:16199547|PMID:17534573|PMID:17576681|PMID:19105186|PMID:19127411|PMID:19877282|PMID:21031596|PMID:21465523|PMID:22471590|PMID:24033266|PMID:24627108|PMID:25287621|PMID:25326635|PMID:25741868|PMID:26094004|PMID:26643206|PMID:27124789|PMID:27763634|PMID:28492532|PMID:29389947|PMID:33123925|PMID:9090384|PMID:9354782|PMID:9536098|PMID:9632816|PMID:9792857 12382616 PEX12 peroxisomal biogenesis factor 12 gene DOID:0081241 peroxisome biogenesis disorder 3B ISO RGD:731687 D RGD:7240710 20180425 OMIM 12382616 PEX12 peroxisomal biogenesis factor 12 gene DOID:0081241 peroxisome biogenesis disorder 3B ISO RGD:731687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisomal biogenesis disorder 3b | ClinVar Annotator: match by term: Peroxisome biogenesis disorder type 3B PMID:10527683|PMID:10562279|PMID:10837480|PMID:11370741|PMID:12032265|PMID:14571262|PMID:14630978|PMID:15184617|PMID:15241794|PMID:15542397|PMID:16199547|PMID:17534573|PMID:17576681|PMID:19105186|PMID:19127411|PMID:19877282|PMID:21031596|PMID:2122101|PMID:21465523|PMID:22471590|PMID:24033266|PMID:24627108|PMID:25287621|PMID:25326635|PMID:25741868|PMID:26094004|PMID:26643206|PMID:27124789|PMID:27763634|PMID:28492532|PMID:29389947|PMID:9090384|PMID:9536098|PMID:9632816|PMID:9792857 12382616 PEX12 peroxisomal biogenesis factor 12 gene DOID:630 genetic disease ISO RGD:731687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12382616 PEX12 peroxisomal biogenesis factor 12 gene DOID:905 Zellweger syndrome ISO RGD:731687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder PMID:10527683|PMID:10837480|PMID:14571262|PMID:14630978|PMID:15184617|PMID:15542397|PMID:16199547|PMID:19105186|PMID:19127411|PMID:19877282|PMID:21031596|PMID:21465523|PMID:24627108|PMID:25287621|PMID:25741868|PMID:26094004|PMID:28492532|PMID:29389947|PMID:9090384|PMID:9632816|PMID:9792857 12382616 PEX12 peroxisomal biogenesis factor 12 gene DOID:905 Zellweger syndrome ISO RGD:731687 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:10527683|PMID:10837480|PMID:14571262|PMID:14630978|PMID:15184617|PMID:15542397|PMID:16199547|PMID:17576681|PMID:19105186|PMID:19127411|PMID:19877282|PMID:21031596|PMID:21465523|PMID:24627108|PMID:25287621|PMID:25741868|PMID:26094004|PMID:28492532|PMID:29389947|PMID:9090384|PMID:9536098|PMID:9632816|PMID:9792857 12382616 PEX12 peroxisomal biogenesis factor 12 gene DOID:905 Zellweger syndrome ISO RGD:731687 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum PMID:10527683|PMID:10562279|PMID:10837480|PMID:12032265|PMID:14571262|PMID:14630978|PMID:15184617|PMID:15241794|PMID:15542397|PMID:16199547|PMID:17576681|PMID:19105186|PMID:19127411|PMID:19877282|PMID:21031596|PMID:21465523|PMID:24627108|PMID:25287621|PMID:25741868|PMID:26094004|PMID:28492532|PMID:29389947|PMID:9090384|PMID:9536098|PMID:9632816|PMID:9792857 12382623 ADAM8 ADAM metallopeptidase domain 8 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1343050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12382623 ADAM8 ADAM metallopeptidase domain 8 gene DOID:2841 asthma ISO RGD:1320020 D RGD:9068941 20200609 RGD PMID:20194813|REF_RGD_ID:5128872 12382623 ADAM8 ADAM metallopeptidase domain 8 gene DOID:2841 asthma ISO RGD:1320020 D RGD:9068941 20200609 RGD mRNA:increased expression:respiratory tract PMID:19373511|REF_RGD_ID:5128878 12382623 ADAM8 ADAM metallopeptidase domain 8 gene DOID:2841 asthma severity ISO RGD:1343050 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchus PMID:17339047|REF_RGD_ID:4145380 12382623 ADAM8 ADAM metallopeptidase domain 8 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1343050 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:17979891|REF_RGD_ID:2325243 12382623 ADAM8 ADAM metallopeptidase domain 8 gene DOID:630 genetic disease ISO RGD:1343050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382623 ADAM8 ADAM metallopeptidase domain 8 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1320020 D RGD:9068941 20200609 RGD PMID:9670863|REF_RGD_ID:2325244 12382623 ADAM8 ADAM metallopeptidase domain 8 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:1320020 D RGD:9068941 20200609 RGD PMID:9670863|REF_RGD_ID:2325244 12382623 ADAM8 ADAM metallopeptidase domain 8 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1343050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24646716 12382623 ADAM8 ADAM metallopeptidase domain 8 gene DOID:9498 pulmonary eosinophilia ISO RGD:1343050 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19625177|REF_RGD_ID:5128874 12382647 LTA lymphotoxin alpha gene DOID:0050127 sinusitis susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:11037831|REF_RGD_ID:4143260 12382647 LTA lymphotoxin alpha gene DOID:0050553 JMP syndrome ISO RGD:1345394 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12382647 LTA lymphotoxin alpha gene DOID:0050697 chorioamnionitis severity ISO RGD:1345394 D RGD:9068941 20200609 RGD associated with Premature Birth;DNA:SNP:promoter:250G>A (human) PMID:15128916|REF_RGD_ID:12904055 12382647 LTA lymphotoxin alpha gene DOID:0080750 erythema nodosum ISO RGD:1345394 D RGD:9068941 20200609 RGD associated with Sarcoidosis;DNA:polymorphism:intron PMID:19225544|REF_RGD_ID:8548773 12382647 LTA lymphotoxin alpha gene DOID:1024 leprosy ISO RGD:1345394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leprosy, early-onset, susceptibility to PMID:15052269|PMID:17353895 12382647 LTA lymphotoxin alpha gene DOID:1024 leprosy susceptibility ISO RGD:1345394 D RGD:7240710 20190502 OMIM 12382647 LTA lymphotoxin alpha gene DOID:10763 hypertension no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD PMID:15533732|REF_RGD_ID:1580415 12382647 LTA lymphotoxin alpha gene DOID:11372 megacolon ISO RGD:1345394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12382647 LTA lymphotoxin alpha gene DOID:11394 adult respiratory distress syndrome ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorhpism:blood: PMID:16135717|REF_RGD_ID:4143247 12382647 LTA lymphotoxin alpha gene DOID:1205 allergic disease ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype PMID:11591192|REF_RGD_ID:8548785 12382647 LTA lymphotoxin alpha gene DOID:1205 allergic disease ISO RGD:1345394 D RGD:9068941 20200609 RGD associated with Nasal Polyps PMID:22545387|REF_RGD_ID:8548802 12382647 LTA lymphotoxin alpha gene DOID:12361 Graves' disease ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:1346144|REF_RGD_ID:8548778 12382647 LTA lymphotoxin alpha gene DOID:12361 Graves' disease no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:7928443|REF_RGD_ID:8548790 12382647 LTA lymphotoxin alpha gene DOID:12894 Sjogren's syndrome ISO RGD:1345394 D RGD:9068941 20200609 RGD protein:increased expression:saliva, serum PMID:20952683|REF_RGD_ID:8548776 12382647 LTA lymphotoxin alpha gene DOID:12894 Sjogren's syndrome ISO RGD:733657 D RGD:9068941 20200609 RGD PMID:20952683|REF_RGD_ID:8548776 12382647 LTA lymphotoxin alpha gene DOID:12894 Sjogren's syndrome no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:22294627|REF_RGD_ID:8548787 12382647 LTA lymphotoxin alpha gene DOID:12894 Sjogren's syndrome susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron: (rs909253) (human) PMID:22294627|REF_RGD_ID:8548787 12382647 LTA lymphotoxin alpha gene DOID:13258 typhoid fever susceptibility ISO RGD:1345394 D RGD:9068941 20200716 RGD DNA:SNP:: PMID:11120931|REF_RGD_ID:36049756 12382647 LTA lymphotoxin alpha gene DOID:13406 pulmonary sarcoidosis susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP:intron: PMID:15713215|REF_RGD_ID:4143248 12382647 LTA lymphotoxin alpha gene DOID:13413 hepatic encephalopathy ISO RGD:1345394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9696492 12382647 LTA lymphotoxin alpha gene DOID:1380 endometrial cancer susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism: :252A>G, 804C>A (human) PMID:17045328|REF_RGD_ID:2313259 12382647 LTA lymphotoxin alpha gene DOID:14069 cerebral malaria ISO RGD:733657 D RGD:9068941 20200609 RGD PMID:12021316|REF_RGD_ID:10449455 12382647 LTA lymphotoxin alpha gene DOID:1485 cystic fibrosis severity ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype: :252A>G (human) PMID:21993476|REF_RGD_ID:6767553 12382647 LTA lymphotoxin alpha gene DOID:1612 breast cancer susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP:intron PMID:11841482|REF_RGD_ID:8548791 12382647 LTA lymphotoxin alpha gene DOID:1612 breast cancer susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype: :252A>G (human) PMID:18409070|REF_RGD_ID:8548786 12382647 LTA lymphotoxin alpha gene DOID:1679 cystitis ISO RGD:3020 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:11948286|REF_RGD_ID:6907118 12382647 LTA lymphotoxin alpha gene DOID:1790 malignant mesothelioma ISO RGD:1345394 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 12382647 LTA lymphotoxin alpha gene DOID:1909 melanoma disease_progression ISO RGD:1345394 D RGD:9068941 20200609 RGD PMID:9182821|REF_RGD_ID:8548801 12382647 LTA lymphotoxin alpha gene DOID:2018 hyperinsulinism ISO RGD:1345394 D RGD:9068941 20200609 RGD associated with Coronary Arteriosclerosis PMID:9726033|REF_RGD_ID:1625034 12382647 LTA lymphotoxin alpha gene DOID:2349 arteriosclerosis ISO RGD:733657 D RGD:9068941 20200609 RGD PMID:11809756|REF_RGD_ID:1581936 12382647 LTA lymphotoxin alpha gene DOID:2773 contact dermatitis ISO RGD:733657 D RGD:9068941 20200609 RGD PMID:11390430|REF_RGD_ID:8548819 12382647 LTA lymphotoxin alpha gene DOID:2841 asthma ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:17536219|REF_RGD_ID:4143371 12382647 LTA lymphotoxin alpha gene DOID:2841 asthma no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:12530118|REF_RGD_ID:4143254 12382647 LTA lymphotoxin alpha gene DOID:2841 asthma susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:18947013|REF_RGD_ID:4143370 12382647 LTA lymphotoxin alpha gene DOID:2841 asthma susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter PMID:15969671|REF_RGD_ID:4143373 12382647 LTA lymphotoxin alpha gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:252G>A (human) PMID:20180006|REF_RGD_ID:4143234 12382647 LTA lymphotoxin alpha gene DOID:3070 high grade glioma treatment ISO RGD:1345394 D RGD:9068941 20200609 RGD PMID:1883913|REF_RGD_ID:1625042 12382647 LTA lymphotoxin alpha gene DOID:3393 coronary artery disease ISO RGD:1345394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15266304 12382647 LTA lymphotoxin alpha gene DOID:3393 coronary artery disease ISO RGD:1345394 D RGD:9068941 20200609 RGD PMID:15973460|REF_RGD_ID:1580414 12382647 LTA lymphotoxin alpha gene DOID:3407 carotid artery disease susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :252A>G (human) PMID:17065682|REF_RGD_ID:1581937 12382647 LTA lymphotoxin alpha gene DOID:3526 cerebral infarction ISO RGD:1345394 D RGD:9068941 20200609 RGD PMID:14593215|REF_RGD_ID:1580416 12382647 LTA lymphotoxin alpha gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1345394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29379198 12382647 LTA lymphotoxin alpha gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345394 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:9669810|REF_RGD_ID:4143264 12382647 LTA lymphotoxin alpha gene DOID:418 systemic scleroderma susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP:intron:252A>G (human) PMID:10600011|REF_RGD_ID:8548796 12382647 LTA lymphotoxin alpha gene DOID:4398 pustulosis of palm and sole ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS1 (human) PMID:12691703|REF_RGD_ID:8548804 12382647 LTA lymphotoxin alpha gene DOID:5844 myocardial infarction ISO RGD:1345394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:12426569|PMID:12746914|PMID:14681301|PMID:15266304 12382647 LTA lymphotoxin alpha gene DOID:5844 myocardial infarction no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD PMID:15175864|REF_RGD_ID:1581940 12382647 LTA lymphotoxin alpha gene DOID:5844 myocardial infarction severity ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP:exon:804C>A (p.T26N) (human) PMID:23398946|REF_RGD_ID:8548841 12382647 LTA lymphotoxin alpha gene DOID:5844 myocardial infarction susceptibility ISO RGD:1345394 D RGD:7240710 20190502 OMIM 12382647 LTA lymphotoxin alpha gene DOID:630 genetic disease ISO RGD:1345394 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382647 LTA lymphotoxin alpha gene DOID:8505 dermatitis herpetiformis ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:7914110|REF_RGD_ID:8548777 12382647 LTA lymphotoxin alpha gene DOID:8893 psoriasis susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS1 (human) PMID:12709814|REF_RGD_ID:8548775 12382647 LTA lymphotoxin alpha gene DOID:8947 diabetic retinopathy no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism:intron, exon:252A>G, 804C>A (human) PMID:16979413|REF_RGD_ID:8548772 12382647 LTA lymphotoxin alpha gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism: PMID:11399938|REF_RGD_ID:8548797 12382647 LTA lymphotoxin alpha gene DOID:9002165 Diabetic Nephropathies ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:18575614|REF_RGD_ID:2313255 12382647 LTA lymphotoxin alpha gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3020 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:9184655|REF_RGD_ID:4143220 12382647 LTA lymphotoxin alpha gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3020 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:7593556|REF_RGD_ID:1625038 12382647 LTA lymphotoxin alpha gene DOID:9003817 Sudden Hearing Loss ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:252A>G (human) PMID:19833626|REF_RGD_ID:8548795 12382647 LTA lymphotoxin alpha gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:733657 D RGD:9068941 20200609 RGD PMID:11145686|REF_RGD_ID:8548806 12382647 LTA lymphotoxin alpha gene DOID:9004283 Transplant Rejection ISO RGD:3020 D RGD:9068941 20200609 RGD PMID:8356596|REF_RGD_ID:8548835 12382647 LTA lymphotoxin alpha gene DOID:9004283 Transplant Rejection treatment ISO RGD:3020 D RGD:9068941 20200609 RGD PMID:2338821|REF_RGD_ID:8548836 12382647 LTA lymphotoxin alpha gene DOID:9004484 Sepsis ISO RGD:1345394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22977509 12382647 LTA lymphotoxin alpha gene DOID:9006599 Hypertriglyceridemia no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:9245742|REF_RGD_ID:1625035 12382647 LTA lymphotoxin alpha gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:7783649|REF_RGD_ID:1625036 12382647 LTA lymphotoxin alpha gene DOID:9007346 Cachexia susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA:polymorphism:intron:252G>A (human) PMID:18953879|REF_RGD_ID:8548798 12382647 LTA lymphotoxin alpha gene DOID:9007692 Insulin Resistance no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:9245742|REF_RGD_ID:1625035 12382647 LTA lymphotoxin alpha gene DOID:9008 psoriatic arthritis ISO RGD:1345394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to PMID:12426569|PMID:12746914|PMID:14681301 12382647 LTA lymphotoxin alpha gene DOID:9008 psoriatic arthritis susceptibility ISO RGD:1345394 D RGD:7240710 20190502 OMIM 12382647 LTA lymphotoxin alpha gene DOID:9008 psoriatic arthritis treatment ISO RGD:1345394 D RGD:9068941 20200609 RGD PMID:22480318|REF_RGD_ID:8548821 12382647 LTA lymphotoxin alpha gene DOID:9111 cutaneous leishmaniasis no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP:intron:252A>G (human) PMID:16950634|REF_RGD_ID:8548800 12382647 LTA lymphotoxin alpha gene DOID:9146 visceral leishmaniasis ISO RGD:733657 D RGD:9068941 20200609 RGD PMID:15579454|REF_RGD_ID:8548789 12382647 LTA lymphotoxin alpha gene DOID:9146 visceral leishmaniasis severity ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:12438370|REF_RGD_ID:8548784 12382647 LTA lymphotoxin alpha gene DOID:9155 mucocutaneous leishmaniasis ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:7595196|REF_RGD_ID:8548799 12382647 LTA lymphotoxin alpha gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.T60N (human) PMID:16132956|REF_RGD_ID:2313261 12382647 LTA lymphotoxin alpha gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.T60N (human) PMID:15729581|REF_RGD_ID:1625033 12382647 LTA lymphotoxin alpha gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:CDS:rs2229094 (human) PMID:20663564|REF_RGD_ID:8548782 12382647 LTA lymphotoxin alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:1345394 D RGD:9068941 20200609 RGD PMID:11141334|REF_RGD_ID:2313263 12382647 LTA lymphotoxin alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism: :252A>G (human) PMID:12622777|REF_RGD_ID:2313262 12382647 LTA lymphotoxin alpha gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:1345394 D RGD:9068941 20200609 RGD protein:decreased expression:mononuclear cell PMID:9342542|REF_RGD_ID:2313264 12382647 LTA lymphotoxin alpha gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:19120272|REF_RGD_ID:2313253 12382647 LTA lymphotoxin alpha gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism: :249A>G (human) PMID:17989340|REF_RGD_ID:2313257 12382647 LTA lymphotoxin alpha gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:1345394 D RGD:9068941 20200609 RGD PMID:8242903|REF_RGD_ID:8548842 12382647 LTA lymphotoxin alpha gene DOID:9784 trichinosis ISO RGD:733657 D RGD:9068941 20200609 RGD PMID:19564380|REF_RGD_ID:8548805 12382658 RHEBL1 RHEB like 1 gene DOID:0080600 COVID-19 ISO RGD:1346400 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12382658 RHEBL1 RHEB like 1 gene DOID:630 genetic disease ISO RGD:1346400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382672 SFR1 SWI5 dependent homologous recombination repair protein 1 gene DOID:630 genetic disease ISO RGD:1313532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382687 ADAP2 ArfGAP with dual PH domains 2 gene DOID:0080600 COVID-19 ISO RGD:734306 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12382687 ADAP2 ArfGAP with dual PH domains 2 gene DOID:0111253 neurofibromatosis 1 ISO RGD:734306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 12382687 ADAP2 ArfGAP with dual PH domains 2 gene DOID:1969 cerebral palsy ISO RGD:734306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12382687 ADAP2 ArfGAP with dual PH domains 2 gene DOID:630 genetic disease ISO RGD:734306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382687 ADAP2 ArfGAP with dual PH domains 2 gene DOID:9008086 Developmental Disabilities ISO RGD:734306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 12382709 LRG1 leucine rich alpha-2-glycoprotein 1 gene DOID:0050424 familial adenomatous polyposis ISO RGD:1349039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25200834 12382709 LRG1 leucine rich alpha-2-glycoprotein 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1349039 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 12382709 LRG1 leucine rich alpha-2-glycoprotein 1 gene DOID:13938 amenorrhea ISO RGD:1349039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12382709 LRG1 leucine rich alpha-2-glycoprotein 1 gene DOID:3021 acute kidney failure ISO RGD:1349039 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34677723 12382709 LRG1 leucine rich alpha-2-glycoprotein 1 gene DOID:630 genetic disease ISO RGD:1349039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382709 LRG1 leucine rich alpha-2-glycoprotein 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1349039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25200834 12382709 LRG1 leucine rich alpha-2-glycoprotein 1 gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1349039 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 12382715 SRP9 signal recognition particle 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1348001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12382715 SRP9 signal recognition particle 9 gene DOID:630 genetic disease ISO RGD:1348001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382715 SRP9 signal recognition particle 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12382722 TSGA10IP testis specific 10 interacting protein gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1346501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 12382722 TSGA10IP testis specific 10 interacting protein gene DOID:1059 intellectual disability ISO RGD:1346501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12382722 TSGA10IP testis specific 10 interacting protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12382722 TSGA10IP testis specific 10 interacting protein gene DOID:2746 glycogen storage disease V ISO RGD:1346501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12382722 TSGA10IP testis specific 10 interacting protein gene DOID:630 genetic disease ISO RGD:1346501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382722 TSGA10IP testis specific 10 interacting protein gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1346501 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12382722 TSGA10IP testis specific 10 interacting protein gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1346501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12382734 LRRC75B leucine rich repeat containing 75B gene DOID:1826 epilepsy ISO RGD:1606646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12382734 LRRC75B leucine rich repeat containing 75B gene DOID:5419 schizophrenia ISO RGD:1606646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12382734 LRRC75B leucine rich repeat containing 75B gene DOID:630 genetic disease ISO RGD:1606646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382749 C9H17orf67 chromosome 9 C17orf67 homolog gene DOID:0050777 Joubert syndrome ISO RGD:1603500 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12382757 LOC100685620 alpha-1-acid glycoprotein 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:737236 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 12382757 LOC100685620 alpha-1-acid glycoprotein 1 gene DOID:630 genetic disease ISO RGD:737236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382757 LOC100685620 alpha-1-acid glycoprotein 1 gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:737236 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 12382767 VSIG10L V-set and immunoglobulin domain containing 10 like gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:3440350 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:16510302|PMID:23785301|PMID:28492532 12382767 VSIG10L V-set and immunoglobulin domain containing 10 like gene DOID:0080600 COVID-19 ISO RGD:3440350 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12382767 VSIG10L V-set and immunoglobulin domain containing 10 like gene DOID:630 genetic disease ISO RGD:3440350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382787 PDZRN3 PDZ domain containing ring finger 3 gene DOID:630 genetic disease ISO RGD:1313169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382787 PDZRN3 PDZ domain containing ring finger 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313169 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12382787 PDZRN3 PDZ domain containing ring finger 3 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1313169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 12382787 PDZRN3 PDZ domain containing ring finger 3 gene DOID:9007661 Dwarfism ISO RGD:1313169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12382805 MIR105A microRNA mir-105a gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12382805 MIR105A microRNA mir-105a gene DOID:12849 autistic disorder ISO RGD:1348325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12382808 MIR885 microRNA mir-885 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:2290221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12382808 MIR885 microRNA mir-885 gene DOID:2043 hepatitis B ISO RGD:2290221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12382808 MIR885 microRNA mir-885 gene DOID:5082 liver cirrhosis ISO RGD:2290221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27738331 12382808 MIR885 microRNA mir-885 gene DOID:684 hepatocellular carcinoma ISO RGD:2290221 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27738331 12382808 MIR885 microRNA mir-885 gene DOID:9000918 Disease Progression ISO RGD:2290221 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27738331 12382808 MIR885 microRNA mir-885 gene DOID:9000965 Neoplasm Metastasis ISO RGD:2290221 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27738331 12382808 MIR885 microRNA mir-885 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2290221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12382808 MIR885 microRNA mir-885 gene DOID:9008163 Chronic Hepatitis B ISO RGD:2290221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27738331 12382808 MIR885 microRNA mir-885 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2290221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12382875 SARNP SAP domain containing ribonucleoprotein gene DOID:630 genetic disease ISO RGD:1603945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12382890 MDN1 midasin AAA ATPase 1 gene DOID:2843 long QT syndrome ISO RGD:1314985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12382890 MDN1 midasin AAA ATPase 1 gene DOID:630 genetic disease ISO RGD:1314985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383000 CCDC30 coiled-coil domain containing 30 gene DOID:0081159 dilated cardiomyopathy 2C ISO RGD:1605139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2c PMID:25741868|PMID:28492532|PMID:29754768 12383000 CCDC30 coiled-coil domain containing 30 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12383000 CCDC30 coiled-coil domain containing 30 gene DOID:630 genetic disease ISO RGD:1605139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12383034 LOC476816 folate receptor beta gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1318329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:19732866|PMID:22586289|PMID:28492532 12383034 LOC476816 folate receptor beta gene DOID:0060041 autism spectrum disorder ISO RGD:1318329 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12383034 LOC476816 folate receptor beta gene DOID:0080074 neural tube defect ISO RGD:1318329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11749123 12383034 LOC476816 folate receptor beta gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1318329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30794826 12383034 LOC476816 folate receptor beta gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1318329 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12383034 LOC476816 folate receptor beta gene DOID:1059 intellectual disability ISO RGD:1318329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12383034 LOC476816 folate receptor beta gene DOID:630 genetic disease ISO RGD:1318329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383034 LOC476816 folate receptor beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12383049 RIN2 Ras and Rab interactor 2 gene DOID:630 genetic disease ISO RGD:1314166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12383049 RIN2 Ras and Rab interactor 2 gene DOID:9001912 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis ISO RGD:1314166 D RGD:7240710 20180130 OMIM 12383049 RIN2 Ras and Rab interactor 2 gene DOID:9001912 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis ISO RGD:1314166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly, alopecia, cutis laxa, and scoliosis | ClinVar Annotator: match by term: TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS PMID:19631308|PMID:20424861|PMID:20954239|PMID:24449201|PMID:25741868|PMID:27277385|PMID:28492532|PMID:30769224 12383082 DDX27 DEAD-box helicase 27 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:1313779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 PMID:28492532 12383082 DDX27 DEAD-box helicase 27 gene DOID:630 genetic disease ISO RGD:1313779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383111 SEMA4C semaphorin 4C gene DOID:0080600 COVID-19 ISO RGD:1354487 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12383111 SEMA4C semaphorin 4C gene DOID:1059 intellectual disability ISO RGD:1354487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12383111 SEMA4C semaphorin 4C gene DOID:5419 schizophrenia ISO RGD:1354487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12383111 SEMA4C semaphorin 4C gene DOID:630 genetic disease ISO RGD:1354487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383136 OPLAH 5-oxoprolinase, ATP-hydrolysing gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:733077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy PMID:25741868 12383136 OPLAH 5-oxoprolinase, ATP-hydrolysing gene DOID:0080600 COVID-19 ISO RGD:733077 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12383136 OPLAH 5-oxoprolinase, ATP-hydrolysing gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:733077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12383136 OPLAH 5-oxoprolinase, ATP-hydrolysing gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:733077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12383136 OPLAH 5-oxoprolinase, ATP-hydrolysing gene DOID:4621 holoprosencephaly ISO RGD:733077 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12383136 OPLAH 5-oxoprolinase, ATP-hydrolysing gene DOID:630 genetic disease ISO RGD:733077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12383136 OPLAH 5-oxoprolinase, ATP-hydrolysing gene DOID:9006099 5-Oxoprolinase Deficiency ISO RGD:733077 D RGD:7240710 20180130 OMIM 12383136 OPLAH 5-oxoprolinase, ATP-hydrolysing gene DOID:9006099 5-Oxoprolinase Deficiency ISO RGD:733077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 5-Oxoprolinase deficiency PMID:16199547|PMID:17576681|PMID:21651516|PMID:23430506|PMID:25741868|PMID:27477828|PMID:28492532|PMID:9536098 12383136 OPLAH 5-oxoprolinase, ATP-hydrolysing gene DOID:9006253 Ketosis ISO RGD:733077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ketosis PMID:25741868 12383165 CHST1 carbohydrate sulfotransferase 1 gene DOID:1059 intellectual disability ISO RGD:1317743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12383165 CHST1 carbohydrate sulfotransferase 1 gene DOID:630 genetic disease ISO RGD:1317743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383173 CDS2 CDP-diacylglycerol synthase 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:731362 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12383173 CDS2 CDP-diacylglycerol synthase 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:731362 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12383173 CDS2 CDP-diacylglycerol synthase 2 gene DOID:630 genetic disease ISO RGD:731362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383190 AACS acetoacetyl-CoA synthetase gene DOID:630 genetic disease ISO RGD:732340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383190 AACS acetoacetyl-CoA synthetase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:708522 D RGD:9068941 20200609 RGD protein:decreased activity:liver PMID:12034369|REF_RGD_ID:2301022 12383190 AACS acetoacetyl-CoA synthetase gene DOID:9970 obesity ISO RGD:708522 D RGD:9068941 20200609 RGD mRNA:altered expression:thalamus, hypothalamus (rat) PMID:19219059|REF_RGD_ID:2326191 12383213 MLX MAX dimerization protein MLX gene DOID:0070311 oligoasthenoteratozoospermia ISO RGD:1619244 D RGD:9068941 20230330 MouseDO 12383213 MLX MAX dimerization protein MLX gene DOID:0080495 ovarian dysgenesis 3 ISO RGD:1602902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 3 PMID:31042289 12383213 MLX MAX dimerization protein MLX gene DOID:0111394 mucopolysaccharidosis type IIIB ISO RGD:1602902 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B PMID:28492532 12383213 MLX MAX dimerization protein MLX gene DOID:630 genetic disease ISO RGD:1602902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383230 MPPED2 metallophosphoesterase domain containing 2 gene DOID:10024 migraine with aura ISO RGD:1347972 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:35115687 12383230 MPPED2 metallophosphoesterase domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1347972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12383230 MPPED2 metallophosphoesterase domain containing 2 gene DOID:630 genetic disease ISO RGD:1347972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383256 ZMYM1 zinc finger MYM-type containing 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1315977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12383256 ZMYM1 zinc finger MYM-type containing 1 gene DOID:630 genetic disease ISO RGD:1315977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383305 SPP2 secreted phosphoprotein 2 gene DOID:0060476 Perlman syndrome ISO RGD:1344565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12383305 SPP2 secreted phosphoprotein 2 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1344565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12383305 SPP2 secreted phosphoprotein 2 gene DOID:630 genetic disease ISO RGD:1344565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12383319 MED8 mediator complex subunit 8 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12383319 MED8 mediator complex subunit 8 gene DOID:630 genetic disease ISO RGD:1313646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383330 CXHXorf58 chromosome X CXorf58 homolog gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12383330 CXHXorf58 chromosome X CXorf58 homolog gene DOID:12849 autistic disorder ISO RGD:1605257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12383330 CXHXorf58 chromosome X CXorf58 homolog gene DOID:630 genetic disease ISO RGD:1605257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383330 CXHXorf58 chromosome X CXorf58 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12383353 REEP6 receptor accessory protein 6 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1319884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 12383353 REEP6 receptor accessory protein 6 gene DOID:0080350 retinitis pigmentosa 77 ISO RGD:1319884 D RGD:7240710 20190925 OMIM 12383353 REEP6 receptor accessory protein 6 gene DOID:0080350 retinitis pigmentosa 77 ISO RGD:1319884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 77 PMID:25741868|PMID:27889058|PMID:28369466|PMID:28492532|PMID:29120066 12383353 REEP6 receptor accessory protein 6 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1319884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12383353 REEP6 receptor accessory protein 6 gene DOID:10584 retinitis pigmentosa ISO RGD:1319884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:29120066 12383353 REEP6 receptor accessory protein 6 gene DOID:5339 cyclic hematopoiesis ISO RGD:1319884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12383353 REEP6 receptor accessory protein 6 gene DOID:630 genetic disease ISO RGD:1319884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12383353 REEP6 receptor accessory protein 6 gene DOID:8501 fundus dystrophy ISO RGD:1319884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 12383353 REEP6 receptor accessory protein 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12383362 BOD1 biorientation of chromosomes in cell division 1 gene DOID:1059 intellectual disability ISO RGD:1348370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12383362 BOD1 biorientation of chromosomes in cell division 1 gene DOID:630 genetic disease ISO RGD:1348370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383373 LOC100686721 galectin-7 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:2306147 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12383373 LOC100686721 galectin-7 gene DOID:630 genetic disease ISO RGD:2306147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383373 LOC100686721 galectin-7 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2306147 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12383381 OSER1 oxidative stress responsive serine rich 1 gene DOID:2234 focal epilepsy ISO RGD:1350756 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12383381 OSER1 oxidative stress responsive serine rich 1 gene DOID:630 genetic disease ISO RGD:1350756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383381 OSER1 oxidative stress responsive serine rich 1 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12383392 GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:0080428 developmental and epileptic encephalopathy 45 ISO RGD:731063 D RGD:7240710 20190315 OMIM 12383392 GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:0080428 developmental and epileptic encephalopathy 45 ISO RGD:731063 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 45 PMID:23934111|PMID:25741868|PMID:26950270|PMID:27273810|PMID:28492532|PMID:31618474 12383392 GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:731063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12383392 GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:12849 autistic disorder ISO RGD:731063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16080114|PMID:16770606 12383392 GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:12849 autistic disorder ISO RGD:731063 D RGD:9068941 20200609 RGD PMID:20066485|REF_RGD_ID:6480253 12383392 GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:12849 autistic disorder ISO RGD:731063 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2351299, rs4482737, rs3832300(human) PMID:16770606|REF_RGD_ID:6480254 12383392 GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:13413 hepatic encephalopathy ISO RGD:2649 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:15929193|REF_RGD_ID:6480237 12383392 GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:13413 hepatic encephalopathy ISO RGD:731063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15929193 12383392 GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:1826 epilepsy ISO RGD:731063 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12383392 GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:630 genetic disease ISO RGD:731063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12383407 LOC100855558 hemoglobin subunit alpha-like gene DOID:0110031 hemoglobin H disease ISO RGD:737064 D RGD:7240710 20220921 OMIM 12383407 LOC100855558 hemoglobin subunit alpha-like gene DOID:0110031 hemoglobin H disease ISO RGD:737064 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hemoglobin H disease | ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional PMID:10722113|PMID:11410420|PMID:11570724|PMID:12393486|PMID:1281602|PMID:15182058|PMID:1581238|PMID:16116675|PMID:1634361|PMID:1686260|PMID:17164653|PMID:1787098|PMID:18473243|PMID:20507641|PMID:21077767|PMID:21599435|PMID:21637442|PMID:2298455|PMID:23181747|PMID:2372512|PMID:23901141|PMID:24081251|PMID:24200101|PMID:2468982|PMID:24829075|PMID:25523870|PMID:25741868|PMID:25818820|PMID:25897478|PMID:26193976|PMID:26467025|PMID:26715484|PMID:26956449|PMID:27207683|PMID:27271331|PMID:27577202|PMID:28125089|PMID:28492532|PMID:28506685|PMID:29477874|PMID:31111755|PMID:31113390|PMID:3177365|PMID:31933393|PMID:3384694|PMID:3620699|PMID:4422784|PMID:4623704|PMID:4944483|PMID:6153381|PMID:6725554|PMID:7327587|PMID:7701914|PMID:7734346|PMID:7969150|PMID:8136277|PMID:8193381|PMID:8555062|PMID:8602995|PMID:9057661|PMID:9322079|PMID:9629496 12383407 LOC100855558 hemoglobin subunit alpha-like gene DOID:0111363 Heinz body anemia ISO RGD:737064 D RGD:7240710 20220921 OMIM 12383407 LOC100855558 hemoglobin subunit alpha-like gene DOID:0111363 Heinz body anemia ISO RGD:737064 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Heinz body anemia PMID:11410420|PMID:11570724|PMID:12603095|PMID:1281602|PMID:15182058|PMID:15365991|PMID:1581238|PMID:1686260|PMID:1726096|PMID:1787098|PMID:18473243|PMID:20507641|PMID:21599435|PMID:24081251|PMID:24200101|PMID:24300714|PMID:25370869|PMID:25741868|PMID:25818820|PMID:25897478|PMID:26193976|PMID:26467025|PMID:26715484|PMID:26771086|PMID:27207683|PMID:27577202|PMID:28125089|PMID:28506685|PMID:29115104|PMID:29477874|PMID:3024968|PMID:31111755|PMID:31113390|PMID:32498570|PMID:33769430|PMID:3384694|PMID:5639009|PMID:6153381|PMID:6646217|PMID:6946451|PMID:7070526|PMID:7151175|PMID:7558871|PMID:7701914|PMID:7734346|PMID:8943885 12383407 LOC100855558 hemoglobin subunit alpha-like gene DOID:0111631 familial erythrocytosis 7 ISO RGD:737064 D RGD:7240710 20220921 OMIM 12383407 LOC100855558 hemoglobin subunit alpha-like gene DOID:0111631 familial erythrocytosis 7 ISO RGD:737064 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ERYTHROCYTOSIS 7 | ClinVar Annotator: match by term: Erythrocytosis, familial, 7 PMID:1115799|PMID:11186265|PMID:11410420|PMID:12217813|PMID:15182058|PMID:1634355|PMID:1634363|PMID:1686260|PMID:1787098|PMID:1988759|PMID:21599435|PMID:2227935|PMID:24081251|PMID:24200101|PMID:25741868|PMID:25818820|PMID:25897478|PMID:26193976|PMID:26467025|PMID:26715484|PMID:27207683|PMID:2752146|PMID:27577202|PMID:28125089|PMID:28506685|PMID:29477874|PMID:31111755|PMID:31113390|PMID:3384694|PMID:4212045|PMID:4550395|PMID:6153381|PMID:7803274|PMID:7928378 12383407 LOC100855558 hemoglobin subunit alpha-like gene DOID:1099 alpha thalassemia ISO RGD:737064 D RGD:7240710 20220921 OMIM 12383407 LOC100855558 hemoglobin subunit alpha-like gene DOID:1099 alpha thalassemia ISO RGD:737064 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN KOYA DORA | ClinVar Annotator: match by term: alpha Thalassemia PMID:10602170|PMID:1062801|PMID:10722113|PMID:10997982|PMID:11017952|PMID:11074535|PMID:1115799|PMID:11410420|PMID:1155453|PMID:11570724|PMID:12144061|PMID:12217813|PMID:12393486|PMID:1281602|PMID:13748254|PMID:13968068|PMID:14508795|PMID:1487423|PMID:15128423|PMID:15182058|PMID:15365991|PMID:15481883|PMID:15481894|PMID:15481895|PMID:1553958|PMID:15650030|PMID:15658192|PMID:1581238|PMID:15921163|PMID:16103716|PMID:16116675|PMID:1634361|PMID:16512835|PMID:16798638|PMID:1686260|PMID:17054428|PMID:17164653|PMID:1726096|PMID:17296579|PMID:17486494|PMID:17486499|PMID:1787098|PMID:18473243|PMID:18654893|PMID:18923834|PMID:19373587|PMID:19958200|PMID:20154289|PMID:20507641|PMID:20524822|PMID:20642333|PMID:20642338|PMID:21077766|PMID:21077767|PMID:21266019|PMID:21599435|PMID:21637442|PMID:21967524|PMID:2197725|PMID:2265255|PMID:22943743|PMID:2298455|PMID:23181747|PMID:2318293|PMID:23368878|PMID:23402770|PMID:23590659|PMID:23614625|PMID:2372512|PMID:23741188|PMID:2384313|PMID:23901141|PMID:24025420|PMID:24033266|PMID:24081251|PMID:24111644|PMID:24200101|PMID:24300714|PMID:24351118|PMID:2468982|PMID:24826792|PMID:24829075|PMID:25130136|PMID:25370869|PMID:2544542|PMID:25476779|PMID:25523870|PMID:2566576|PMID:25730315|PMID:25741868|PMID:25818820|PMID:25897478|PMID:2606110|PMID:26114741|PMID:26193976|PMID:26193977|PMID:26247176|PMID:26294665|PMID:26365411|PMID:26467025|PMID:26635043|PMID:26715484|PMID:26771086|PMID:26956449|PMID:27207683|PMID:27271331|PMID:2752146|PMID:27577202|PMID:28125089|PMID:28160324|PMID:28492532|PMID:28506685|PMID:28791910|PMID:29115104|PMID:29233055|PMID:29403210|PMID:29477874|PMID:2986746|PMID:3024968|PMID:30864493|PMID:31025160|PMID:31111755|PMID:31113390|PMID:31553106|PMID:3177365|PMID:3191033|PMID:31933393|PMID:3233770|PMID:32498570|PMID:32597250|PMID:33054450|PMID:3384694|PMID:3384700|PMID:3597771|PMID:3620699|PMID:3793931|PMID:3839776|PMID:4422784|PMID:4623704|PMID:4724958|PMID:478977|PMID:4944483|PMID:5122655|PMID:538560|PMID:5587575|PMID:5713624|PMID:5780195|PMID:5794113|PMID:5969816|PMID:6153381|PMID:6158051|PMID:6198906|PMID:6199285|PMID:620088|PMID:6255436|PMID:6327575|PMID:6490612|PMID:6646217|PMID:6725554|PMID:6935689|PMID:6946451|PMID:6994493|PMID:7070526|PMID:7096113|PMID:7110343|PMID:7151175|PMID:7295286|PMID:7327587|PMID:7440717|PMID:7639274|PMID:7701914|PMID:7734346|PMID:7803252|PMID:7803274|PMID:7910813|PMID:7947237|PMID:7969150|PMID:8178806|PMID:8192150|PMID:8193381|PMID:8237999|PMID:8460633|PMID:8555062|PMID:8602995|PMID:8756078|PMID:8781536|PMID:8829628|PMID:9057661|PMID:9099846|PMID:9255612|PMID:9322079|PMID:974034 12383407 LOC100855558 hemoglobin subunit alpha-like gene DOID:1099 alpha thalassemia severity ISO RGD:737064 D RGD:9068941 20220922 RGD associated with Anemia, Sickle Cell; PMID:9604545|REF_RGD_ID:10755568 12383407 LOC100855558 hemoglobin subunit alpha-like gene DOID:12241 beta thalassemia ISO RGD:737064 D RGD:9068941 20220922 CTD CTD Direct Evidence: marker/mechanism PMID:17292142 12383407 LOC100855558 hemoglobin subunit alpha-like gene DOID:2355 anemia ISO RGD:737064 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868|PMID:5639009|PMID:7558871 12383407 LOC100855558 hemoglobin subunit alpha-like gene DOID:2860 hemoglobinopathy ISO RGD:737064 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormal hemoglobin | ClinVar Annotator: match by term: HEMOGLOBIN AGRINIO | ClinVar Annotator: match by term: HEMOGLOBIN CLINICO-MADRID | ClinVar Annotator: match by term: HEMOGLOBIN ICARIA | ClinVar Annotator: match by term: HEMOGLOBIN MONTGOMERY | ClinVar Annotator: match by term: HEMOGLOBIN SALLANCHES | ClinVar Annotator: match by term: HEMOGLOBIN SEAL ROCK | ClinVar Annotator: match by term: HEMOGLOBIN SINAI | ClinVar Annotator: match by term: HEMOGLOBIN SUN PRAIRIE | ClinVar Annotator: match by term: Hemoglobin Val de Marne PMID:10722113|PMID:1115799|PMID:11570724|PMID:12393486|PMID:12603094|PMID:13748254|PMID:13968068|PMID:1517104|PMID:15481888|PMID:15813858|PMID:18691171|PMID:18923834|PMID:20507641|PMID:2079430|PMID:2079431|PMID:21637442|PMID:2298455|PMID:23181747|PMID:2372512|PMID:23741188|PMID:24200101|PMID:25130136|PMID:25741868|PMID:25818820|PMID:26365411|PMID:26467025|PMID:26523940|PMID:26635043|PMID:27207683|PMID:2752146|PMID:28160324|PMID:28492532|PMID:29403210|PMID:31025160|PMID:31553106|PMID:32199931|PMID:3384700|PMID:4422784|PMID:486536|PMID:4944483|PMID:5587575|PMID:5713624|PMID:5780195|PMID:5794113|PMID:620088|PMID:6725554|PMID:7096113|PMID:7110343|PMID:7295286|PMID:7803274|PMID:8136277|PMID:8195006|PMID:8294199|PMID:8555062|PMID:8602995|PMID:8811313|PMID:9057661|PMID:9255612|PMID:9629496 12383407 LOC100855558 hemoglobin subunit alpha-like gene DOID:630 genetic disease ISO RGD:737064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383407 LOC100855558 hemoglobin subunit alpha-like gene DOID:8432 polycythemia ISO RGD:737064 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN INKSTER | ClinVar Annotator: match by term: HEMOGLOBIN J (BUDA) PMID:1115799|PMID:11186265|PMID:2227935|PMID:26467025|PMID:2752146|PMID:4212045|PMID:4550395|PMID:7803274 12383407 LOC100855558 hemoglobin subunit alpha-like gene DOID:9001341 Chloracne ISO RGD:737064 D RGD:9068941 20220922 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12383407 LOC100855558 hemoglobin subunit alpha-like gene DOID:9002652 Alpha-Thalassemia 2 ISO RGD:737064 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Alpha-thalassemia, Dutch type | ClinVar Annotator: match by term: HEMOGLOBIN ZURICH ALBISRIEDEN PMID:12603095|PMID:15481895|PMID:15658192|PMID:20642338|PMID:23614625|PMID:25741868|PMID:26365411|PMID:26467025|PMID:8237999|PMID:8943885 12383407 LOC100855558 hemoglobin subunit alpha-like gene DOID:9002953 Escherichia Coli Infections treatment ISO RGD:737064 D RGD:9068941 20220922 RGD PMID:18786935|REF_RGD_ID:10449443 12383407 LOC100855558 hemoglobin subunit alpha-like gene DOID:9003343 Alpha-Thalassemia-2, Nondeletional ISO RGD:737064 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN PLASENCIA | ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional PMID:10722113|PMID:11410420|PMID:11570724|PMID:12393486|PMID:1281602|PMID:1581238|PMID:15921163|PMID:16116675|PMID:1634361|PMID:17164653|PMID:18473243|PMID:20507641|PMID:21077766|PMID:21077767|PMID:21637442|PMID:2298455|PMID:23181747|PMID:23368878|PMID:2372512|PMID:23901141|PMID:2468982|PMID:24829075|PMID:25523870|PMID:25741868|PMID:26467025|PMID:26956449|PMID:27271331|PMID:28492532|PMID:3177365|PMID:31933393|PMID:3620699|PMID:4422784|PMID:4623704|PMID:4944483|PMID:6725554|PMID:7327587|PMID:7701914|PMID:7734346|PMID:7969150|PMID:8136277|PMID:8193381|PMID:8555062|PMID:8602995|PMID:9057661|PMID:9322079|PMID:9629496 12383407 LOC100855558 hemoglobin subunit alpha-like gene DOID:9008386 Hydrops Fetalis ISO RGD:737064 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME | ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:11722414|PMID:17296578|PMID:20412082|PMID:20507641|PMID:20642338|PMID:23822871|PMID:24275569|PMID:24351118|PMID:24829075|PMID:25741868|PMID:26460264|PMID:26467025|PMID:27173219|PMID:27271331|PMID:8237999|PMID:868864|PMID:9029003 12383414 MIR331 microRNA mir-331 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1349160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12383414 MIR331 microRNA mir-331 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1349160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12383414 MIR331 microRNA mir-331 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1349160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 12383414 MIR331 microRNA mir-331 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1349160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12383414 MIR331 microRNA mir-331 gene DOID:9256 colorectal cancer ISO RGD:1349160 D RGD:9068941 20220811 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12383439 LOC106557476 tubulin alpha-1A chain gene DOID:11476 osteoporosis ISO RGD:1603700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12383470 IL10 interleukin 10 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23962110 12383470 IL10 interleukin 10 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:8704212|REF_RGD_ID:11049460 12383470 IL10 interleukin 10 gene DOID:0050589 inflammatory bowel disease ISO RGD:735591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:11121048|PMID:14657422|PMID:14657427|PMID:17576681|PMID:25741868|PMID:26193622|PMID:28492532|PMID:30290665|PMID:9536098 12383470 IL10 interleukin 10 gene DOID:0050589 inflammatory bowel disease no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP: :rs1800896 (human) PMID:27468578|REF_RGD_ID:11534627 12383470 IL10 interleukin 10 gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:31062617|REF_RGD_ID:14975125 12383470 IL10 interleukin 10 gene DOID:0050827 rheumatic heart disease no_association ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16043936|REF_RGD_ID:1598626 12383470 IL10 interleukin 10 gene DOID:0050848 obstructive sleep apnea ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:22143914|REF_RGD_ID:11049492 12383470 IL10 interleukin 10 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:17338814|REF_RGD_ID:8662972 12383470 IL10 interleukin 10 gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592A>C (human) PMID:28157558|REF_RGD_ID:14975130 12383470 IL10 interleukin 10 gene DOID:0060180 colitis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:22461024|REF_RGD_ID:7771532 12383470 IL10 interleukin 10 gene DOID:0060180 colitis ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:21949848|REF_RGD_ID:7349385 12383470 IL10 interleukin 10 gene DOID:0060180 colitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19238344|PMID:21807089|PMID:22119709|PMID:24314293 12383470 IL10 interleukin 10 gene DOID:0060180 colitis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23771723|REF_RGD_ID:7365024 12383470 IL10 interleukin 10 gene DOID:0060189 ileitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27580383 12383470 IL10 interleukin 10 gene DOID:0060496 respiratory allergy ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:20583974|REF_RGD_ID:4140460 12383470 IL10 interleukin 10 gene DOID:0060500 drug allergy ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19222424|PMID:20485159 12383470 IL10 interleukin 10 gene DOID:0060901 lymphoplasmacytic lymphoma ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:19573080|REF_RGD_ID:11049165 12383470 IL10 interleukin 10 gene DOID:0060903 thrombosis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:12765335|REF_RGD_ID:1598469 12383470 IL10 interleukin 10 gene DOID:0070344 ocular tuberculosis ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor PMID:22583692|REF_RGD_ID:7364832 12383470 IL10 interleukin 10 gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:22467659|REF_RGD_ID:7364834 12383470 IL10 interleukin 10 gene DOID:0080160 cytomegalovirus retinitis ISO RGD:10785 D RGD:9068941 20200609 RGD associated with Murine Acquired Immunodeficiency Syndrome PMID:23415673|REF_RGD_ID:7364815 12383470 IL10 interleukin 10 gene DOID:0080178 mucositis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20881642 12383470 IL10 interleukin 10 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:735591 D RGD:9068941 20200609 RGD associated with morbid obesity PMID:25894568|REF_RGD_ID:14975151 12383470 IL10 interleukin 10 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082A>G (rs1800896) (human) PMID:28852433|REF_RGD_ID:14975143 12383470 IL10 interleukin 10 gene DOID:0080599 Coronavirus infectious disease ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:28493345|REF_RGD_ID:14975163 12383470 IL10 interleukin 10 gene DOID:0080600 COVID-19 ISO RGD:735591 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12383470 IL10 interleukin 10 gene DOID:0080600 COVID-19 ISO RGD:735591 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 12383470 IL10 interleukin 10 gene DOID:0080600 COVID-19 ISO RGD:735591 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:31986264|PMID:32161940 12383470 IL10 interleukin 10 gene DOID:0080600 COVID-19 severity ISO RGD:735591 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 12383470 IL10 interleukin 10 gene DOID:0080600 COVID-19 severity ISO RGD:735591 D RGD:9068941 20200625 RGD associated with cardiovascular system disease;protein:increased expression:blood (human) PMID:32456948|REF_RGD_ID:30309957 12383470 IL10 interleukin 10 gene DOID:0080600 COVID-19 severity ISO RGD:735591 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32365221|REF_RGD_ID:30310229 12383470 IL10 interleukin 10 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:10785 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 12383470 IL10 interleukin 10 gene DOID:0081120 Graves ophthalmopathy ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-819C>T (human) PMID:21067483|REF_RGD_ID:7364859 12383470 IL10 interleukin 10 gene DOID:0081120 Graves ophthalmopathy ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11753760|REF_RGD_ID:7365083 12383470 IL10 interleukin 10 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:735591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 12383470 IL10 interleukin 10 gene DOID:0081267 graft-versus-host disease ISO RGD:735591 D RGD:7240710 20230517 OMIM 12383470 IL10 interleukin 10 gene DOID:0081267 graft-versus-host disease ISO RGD:735591 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Graft-versus-host disease, resistance to | ClinVar Annotator: match by term: Graft-versus-host disease, susceptibility to PMID:11121048|PMID:14657422|PMID:14657427|PMID:25741868|PMID:28492532 12383470 IL10 interleukin 10 gene DOID:0081267 graft-versus-host disease disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP: :rs1800872 (human) PMID:19409109|REF_RGD_ID:11046269 12383470 IL10 interleukin 10 gene DOID:0081267 graft-versus-host disease no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:20195716|REF_RGD_ID:11049177 12383470 IL10 interleukin 10 gene DOID:0081267 graft-versus-host disease severity ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:repeat:promoter PMID:9808588|REF_RGD_ID:2316565 12383470 IL10 interleukin 10 gene DOID:0081267 graft-versus-host disease treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:25034146|REF_RGD_ID:11041897 12383470 IL10 interleukin 10 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:735591 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12383470 IL10 interleukin 10 gene DOID:10140 dry eye syndrome ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Sjogren's Syndrome;protein:increased expression:tear PMID:23752063|REF_RGD_ID:7364807 12383470 IL10 interleukin 10 gene DOID:1024 leprosy ISO RGD:735591 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 PMID:28492532 12383470 IL10 interleukin 10 gene DOID:10247 pleurisy ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422 12383470 IL10 interleukin 10 gene DOID:104 bacterial infectious disease ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Otitis Media PMID:22668804|REF_RGD_ID:7364828 12383470 IL10 interleukin 10 gene DOID:10459 common cold ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:20696083|REF_RGD_ID:4140458 12383470 IL10 interleukin 10 gene DOID:10533 viral pneumonia treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:25219125|REF_RGD_ID:10450576 12383470 IL10 interleukin 10 gene DOID:10534 stomach cancer ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:30610790|REF_RGD_ID:14975253 12383470 IL10 interleukin 10 gene DOID:10534 stomach cancer ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-819C>T (rs1800871) (human) PMID:28002581|REF_RGD_ID:14975135 12383470 IL10 interleukin 10 gene DOID:10608 celiac disease ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:27545437|REF_RGD_ID:14975156 12383470 IL10 interleukin 10 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:735591 D RGD:9068941 20200806 RGD DNA:SNPs,haplotype: -1082G>A, -819T>C, -592C>A (human) PMID:14746878|REF_RGD_ID:1358665 12383470 IL10 interleukin 10 gene DOID:10652 Alzheimer's disease treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:21803105|REF_RGD_ID:7364841 12383470 IL10 interleukin 10 gene DOID:1067 open-angle glaucoma ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:23788371|REF_RGD_ID:7364852 12383470 IL10 interleukin 10 gene DOID:10754 otitis media ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:18771082|REF_RGD_ID:7365029 12383470 IL10 interleukin 10 gene DOID:10754 otitis media ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Haemophilus Infections PMID:18524391|REF_RGD_ID:4891398 12383470 IL10 interleukin 10 gene DOID:10754 otitis media ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections;mRNA:increased expression:middle ear PMID:14500471|REF_RGD_ID:7365082 12383470 IL10 interleukin 10 gene DOID:10754 otitis media ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections;protein:increased expression:middle ear, serum PMID:23404508|REF_RGD_ID:7364816 12383470 IL10 interleukin 10 gene DOID:10754 otitis media ISO RGD:735591 D RGD:9068941 20200609 RGD associated with respiratory syncytial virus infectious disease, associated with common cold;DNA:SNPs, haplotypes:promoter:-1082G>A, -819T>C, -592A>C (human) PMID:18560870|REF_RGD_ID:7365038 12383470 IL10 interleukin 10 gene DOID:10754 otitis media susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (human) PMID:17908769|REF_RGD_ID:7365054 12383470 IL10 interleukin 10 gene DOID:10763 hypertension ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:19398662|REF_RGD_ID:2311047 12383470 IL10 interleukin 10 gene DOID:10923 sickle cell anemia treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:24281564|REF_RGD_ID:11046271 12383470 IL10 interleukin 10 gene DOID:11168 anogenital venereal wart ISO RGD:735591 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 12383470 IL10 interleukin 10 gene DOID:11204 allergic conjunctivitis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:19060266|REF_RGD_ID:7365027 12383470 IL10 interleukin 10 gene DOID:11204 allergic conjunctivitis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:22092652|REF_RGD_ID:7364837 12383470 IL10 interleukin 10 gene DOID:11204 allergic conjunctivitis ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:tear PMID:15144463|REF_RGD_ID:7365076 12383470 IL10 interleukin 10 gene DOID:11204 allergic conjunctivitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:16914468|REF_RGD_ID:11041889 12383470 IL10 interleukin 10 gene DOID:11247 disseminated intravascular coagulation ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16613997|REF_RGD_ID:11049462 12383470 IL10 interleukin 10 gene DOID:11265 trachoma ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:−1082G>A (human) PMID:11023480|REF_RGD_ID:7365085 12383470 IL10 interleukin 10 gene DOID:11265 trachoma ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:tear PMID:18628987|REF_RGD_ID:7365037 12383470 IL10 interleukin 10 gene DOID:11265 trachoma no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:−819T>C, −592A>C (human) PMID:11023480|REF_RGD_ID:7365085 12383470 IL10 interleukin 10 gene DOID:11265 trachoma severity ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:promoter:−1082G>A (human) PMID:15789056|REF_RGD_ID:7365072 12383470 IL10 interleukin 10 gene DOID:11265 trachoma severity ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:haplotype: : PMID:17947295|REF_RGD_ID:7365053 12383470 IL10 interleukin 10 gene DOID:11394 adult respiratory distress syndrome treatment ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Sepsis PMID:22037734|REF_RGD_ID:11049486 12383470 IL10 interleukin 10 gene DOID:11446 sciatic neuropathy treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:22173123|REF_RGD_ID:7364836 12383470 IL10 interleukin 10 gene DOID:11446 sciatic neuropathy treatment ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Constriction, Pathologic PMID:22889616|REF_RGD_ID:7364826 12383470 IL10 interleukin 10 gene DOID:11714 gestational diabetes ISO RGD:735591 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:18446686|REF_RGD_ID:2308947 12383470 IL10 interleukin 10 gene DOID:118 pericardial effusion severity ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16360340|REF_RGD_ID:1598622 12383470 IL10 interleukin 10 gene DOID:12030 panuveitis ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Multifocal Choroiditis;DNA:SNP:intron: (rs2222202) (human) PMID:21357402|REF_RGD_ID:7364844 12383470 IL10 interleukin 10 gene DOID:12132 granulomatosis with polyangiitis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:11838849|REF_RGD_ID:1580480 12383470 IL10 interleukin 10 gene DOID:12134 factor VIII deficiency treatment ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human) PMID:20082647|REF_RGD_ID:11049183 12383470 IL10 interleukin 10 gene DOID:12236 primary biliary cholangitis ISO RGD:735591 D RGD:9068941 20200820 RGD mRNA:increased expression:liver PMID:17158635|REF_RGD_ID:38501106 12383470 IL10 interleukin 10 gene DOID:12361 Graves' disease ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP: :rs1800896 (human) PMID:21424183|REF_RGD_ID:7364858 12383470 IL10 interleukin 10 gene DOID:12361 Graves' disease ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-1082A>G, -819C>T, -592C>A (human) PMID:19882211|REF_RGD_ID:7364862 12383470 IL10 interleukin 10 gene DOID:12361 Graves' disease ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19250272|REF_RGD_ID:7365026 12383470 IL10 interleukin 10 gene DOID:12361 Graves' disease no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:multiple PMID:15497451|REF_RGD_ID:7365074 12383470 IL10 interleukin 10 gene DOID:12385 shigellosis treatment ISO RGD:10785 D RGD:9068941 20201022 RGD PMID:30615126|REF_RGD_ID:39938959 12383470 IL10 interleukin 10 gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:20209309|REF_RGD_ID:4140425 12383470 IL10 interleukin 10 gene DOID:12732 intermediate uveitis ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor PMID:21850175|REF_RGD_ID:7364840 12383470 IL10 interleukin 10 gene DOID:12849 autistic disorder ISO RGD:735591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12383470 IL10 interleukin 10 gene DOID:12894 Sjogren's syndrome ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:12233881|REF_RGD_ID:1580479 12383470 IL10 interleukin 10 gene DOID:12930 dilated cardiomyopathy ISO RGD:2886 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle PMID:19242323|REF_RGD_ID:2311057 12383470 IL10 interleukin 10 gene DOID:13001 carotid stenosis no_association ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16804000|REF_RGD_ID:1598483 12383470 IL10 interleukin 10 gene DOID:13025 retinopathy of prematurity ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:19700197|REF_RGD_ID:7364863 12383470 IL10 interleukin 10 gene DOID:13141 uveitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:promoter, :rs2222202, rs3024490, rs6703630 (human) PMID:20335604|REF_RGD_ID:7364845 12383470 IL10 interleukin 10 gene DOID:13141 uveitis ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:10865312|REF_RGD_ID:7365086 12383470 IL10 interleukin 10 gene DOID:13241 Behcet's disease ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20622878|PMID:20622879 12383470 IL10 interleukin 10 gene DOID:13241 Behcet's disease ISO RGD:735591 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, serum PMID:29719061|REF_RGD_ID:14975149 12383470 IL10 interleukin 10 gene DOID:13241 Behcet's disease disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:15980236|REF_RGD_ID:1598628 12383470 IL10 interleukin 10 gene DOID:13241 Behcet's disease onset ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:26654556|REF_RGD_ID:14975256 12383470 IL10 interleukin 10 gene DOID:13241 Behcet's disease susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592A>C (rs1800872) (human) PMID:29294320|REF_RGD_ID:14975131 12383470 IL10 interleukin 10 gene DOID:13241 Behcet's disease treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:21506890|REF_RGD_ID:7364843 12383470 IL10 interleukin 10 gene DOID:13636 Fanconi anemia ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:24021704|REF_RGD_ID:11049161 12383470 IL10 interleukin 10 gene DOID:1380 endometrial cancer ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9119882|REF_RGD_ID:2317659 12383470 IL10 interleukin 10 gene DOID:14115 toxic shock syndrome ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:7593621|REF_RGD_ID:11049456 12383470 IL10 interleukin 10 gene DOID:14115 toxic shock syndrome ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:12117955|REF_RGD_ID:1598471 12383470 IL10 interleukin 10 gene DOID:14115 toxic shock syndrome ISO RGD:735591 D RGD:9068941 20200806 RGD protein:increased expression:plasma PMID:25403265|REF_RGD_ID:38455982 12383470 IL10 interleukin 10 gene DOID:14115 toxic shock syndrome onset ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:12117955|REF_RGD_ID:1598471 12383470 IL10 interleukin 10 gene DOID:14115 toxic shock syndrome severity ISO RGD:10785 D RGD:9068941 20201211 RGD protein:increased expression:lung (mouse) PMID:28659355|REF_RGD_ID:40890272 12383470 IL10 interleukin 10 gene DOID:1417 choroid disease ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs6703630 (human) PMID:21357402|REF_RGD_ID:7364844 12383470 IL10 interleukin 10 gene DOID:1459 hypothyroidism ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:24534949|REF_RGD_ID:11049472 12383470 IL10 interleukin 10 gene DOID:1459 hypothyroidism treatment ISO RGD:2886 D RGD:9068941 20200903 RGD PMID:29896255|REF_RGD_ID:38549578 12383470 IL10 interleukin 10 gene DOID:14654 prostatitis ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland, serum PMID:19213347|REF_RGD_ID:2311058 12383470 IL10 interleukin 10 gene DOID:14654 prostatitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12050565 12383470 IL10 interleukin 10 gene DOID:1470 major depressive disorder ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNPs, haplotype:promoter:-592C>A, -���819C>T, -1082G>A (human) PMID:30734130|REF_RGD_ID:14975122 12383470 IL10 interleukin 10 gene DOID:1474 aggressive periodontitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) PMID:28662328|REF_RGD_ID:14975139 12383470 IL10 interleukin 10 gene DOID:1474 aggressive periodontitis ISO RGD:735591 D RGD:9068941 20200609 RGD protien:decreased expression:plasma PMID:28868949|REF_RGD_ID:14975264 12383470 IL10 interleukin 10 gene DOID:1540 parathyroid carcinoma ISO RGD:735591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12383470 IL10 interleukin 10 gene DOID:1580 diffuse scleroderma ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9034992|REF_RGD_ID:5684371 12383470 IL10 interleukin 10 gene DOID:1588 thrombocytopenia ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:11091188|REF_RGD_ID:11049172 12383470 IL10 interleukin 10 gene DOID:1588 thrombocytopenia severity ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Malaria, Vivax PMID:25128199|REF_RGD_ID:11041893 12383470 IL10 interleukin 10 gene DOID:1754 mitral valve stenosis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16155388|REF_RGD_ID:1598624 12383470 IL10 interleukin 10 gene DOID:1793 pancreatic cancer ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:30610790|REF_RGD_ID:14975253 12383470 IL10 interleukin 10 gene DOID:1793 pancreatic cancer ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17235586|REF_RGD_ID:2317655 12383470 IL10 interleukin 10 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:30304975|REF_RGD_ID:14975257 12383470 IL10 interleukin 10 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1082G>A (human) PMID:19250218|REF_RGD_ID:2317653 12383470 IL10 interleukin 10 gene DOID:1883 hepatitis C ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:28340949|REF_RGD_ID:14975144 12383470 IL10 interleukin 10 gene DOID:1883 hepatitis C ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19302182|REF_RGD_ID:2308942 12383470 IL10 interleukin 10 gene DOID:1883 hepatitis C no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1800896 (human) PMID:28340949|REF_RGD_ID:14975144 12383470 IL10 interleukin 10 gene DOID:2043 hepatitis B no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-592C>A (rs1800872), -819C>A (rs1800871) (human) PMID:27644568|REF_RGD_ID:14975150 12383470 IL10 interleukin 10 gene DOID:2043 hepatitis B treatment ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP, haplotypes:promoter:-1082G>A (rs1800896) (human) PMID:27644568|REF_RGD_ID:14975150 12383470 IL10 interleukin 10 gene DOID:2048 autoimmune hepatitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 12383470 IL10 interleukin 10 gene DOID:219 colon cancer ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) PMID:27468578|REF_RGD_ID:11534627 12383470 IL10 interleukin 10 gene DOID:219 colon cancer no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP: :rs1800896 (human) PMID:27468578|REF_RGD_ID:11534627 12383470 IL10 interleukin 10 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:24053818|REF_RGD_ID:7364868 12383470 IL10 interleukin 10 gene DOID:2349 arteriosclerosis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:12765335|REF_RGD_ID:1598469 12383470 IL10 interleukin 10 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16523426|REF_RGD_ID:1598477 12383470 IL10 interleukin 10 gene DOID:2355 anemia severity ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Malaria;protein:decreased expression:plasma PMID:9635949|REF_RGD_ID:11049182 12383470 IL10 interleukin 10 gene DOID:2377 multiple sclerosis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23517930 12383470 IL10 interleukin 10 gene DOID:2394 ovarian cancer ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9166545|REF_RGD_ID:2317660 12383470 IL10 interleukin 10 gene DOID:2841 asthma ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:20237464|PMID:20644177|REF_RGD_ID:4140459|REF_RGD_ID:4140471 12383470 IL10 interleukin 10 gene DOID:2841 asthma ISO RGD:2515 D RGD:9068941 20200609 RGD PMID:20560982|REF_RGD_ID:5131623 12383470 IL10 interleukin 10 gene DOID:2841 asthma ISO RGD:2886 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:20230687|REF_RGD_ID:4140421 12383470 IL10 interleukin 10 gene DOID:2841 asthma ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29317916 12383470 IL10 interleukin 10 gene DOID:2841 asthma ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:20121766|REF_RGD_ID:4140451 12383470 IL10 interleukin 10 gene DOID:2841 asthma susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:polymorphism: :-627C>A (human) PMID:12938145|REF_RGD_ID:4143221 12383470 IL10 interleukin 10 gene DOID:2841 asthma treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:21998459|REF_RGD_ID:11046261 12383470 IL10 interleukin 10 gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592A>C (human) PMID:15718915|REF_RGD_ID:11049178 12383470 IL10 interleukin 10 gene DOID:2862 glucosephosphate dehydrogenase deficiency no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-1082G>A, -819T>C (human) PMID:15718915|REF_RGD_ID:11049178 12383470 IL10 interleukin 10 gene DOID:289 endometriosis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30579999 12383470 IL10 interleukin 10 gene DOID:289 endometriosis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:21665488|REF_RGD_ID:11049494 12383470 IL10 interleukin 10 gene DOID:2913 acute pancreatitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (human) PMID:27173345|REF_RGD_ID:14975140 12383470 IL10 interleukin 10 gene DOID:2913 acute pancreatitis no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter: -819T>C (human) PMID:27173345|REF_RGD_ID:14975140 12383470 IL10 interleukin 10 gene DOID:2921 glomerulonephritis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10910440 12383470 IL10 interleukin 10 gene DOID:2945 severe acute respiratory syndrome ISO RGD:10785 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 12383470 IL10 interleukin 10 gene DOID:2945 severe acute respiratory syndrome ISO RGD:2886 D RGD:9068941 20200702 RGD protein:increased expression:serum, bronchoalveolar Lavage fluid (rat) PMID:16409721|REF_RGD_ID:32726073 12383470 IL10 interleukin 10 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:735591 D RGD:9068941 20200702 RGD PMID:15865221|REF_RGD_ID:33769580 12383470 IL10 interleukin 10 gene DOID:3021 acute kidney failure ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18460982 12383470 IL10 interleukin 10 gene DOID:3042 allergic contact dermatitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15347381 12383470 IL10 interleukin 10 gene DOID:3042 allergic contact dermatitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:23760007|REF_RGD_ID:7364806 12383470 IL10 interleukin 10 gene DOID:3070 high grade glioma susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP: :rs1800896 (human) PMID:20406895|REF_RGD_ID:4140470 12383470 IL10 interleukin 10 gene DOID:3229 gastric dilatation ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:30249047|REF_RGD_ID:14975138 12383470 IL10 interleukin 10 gene DOID:3234 central nervous system lymphoma ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (human) PMID:22628023|REF_RGD_ID:7364831 12383470 IL10 interleukin 10 gene DOID:3310 atopic dermatitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 12383470 IL10 interleukin 10 gene DOID:3310 atopic dermatitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:23843958|REF_RGD_ID:7364805 12383470 IL10 interleukin 10 gene DOID:3393 coronary artery disease ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16460885|REF_RGD_ID:1598621 12383470 IL10 interleukin 10 gene DOID:3393 coronary artery disease no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-592C>A (rs1800872), -819C>T (rs1800871) (human) PMID:29525679|REF_RGD_ID:14975129 12383470 IL10 interleukin 10 gene DOID:3393 coronary artery disease susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082A>G (rs1800896) (human) PMID:29525679|REF_RGD_ID:14975129 12383470 IL10 interleukin 10 gene DOID:3407 carotid artery disease ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16801669|REF_RGD_ID:1598484 12383470 IL10 interleukin 10 gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:10785 D RGD:9068941 20230330 RGD PMID:28630232|REF_RGD_ID:242905192 12383470 IL10 interleukin 10 gene DOID:3526 cerebral infarction treatment ISO RGD:10785 D RGD:9068941 20220930 RGD PMID:29111308|REF_RGD_ID:155260331 12383470 IL10 interleukin 10 gene DOID:3571 liver cancer ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:30610790|REF_RGD_ID:14975253 12383470 IL10 interleukin 10 gene DOID:3602 toxic encephalopathy treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23916895|REF_RGD_ID:7364985 12383470 IL10 interleukin 10 gene DOID:37 skin disease severity ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Arsenic Poisoning PMID:21357384|REF_RGD_ID:7364846 12383470 IL10 interleukin 10 gene DOID:37 skin disease susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Arsenic Poisoning;DNA:SNP:promoter:−3575T>A (human) PMID:21357384|REF_RGD_ID:7364846 12383470 IL10 interleukin 10 gene DOID:3721 plasmacytoma ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:26140236|REF_RGD_ID:11049175 12383470 IL10 interleukin 10 gene DOID:3825 Shwartzman phenomenon ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:7593621|REF_RGD_ID:11049456 12383470 IL10 interleukin 10 gene DOID:3904 bronchus carcinoma ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:8030748|REF_RGD_ID:4143231 12383470 IL10 interleukin 10 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20471133 12383470 IL10 interleukin 10 gene DOID:4362 cervical cancer disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9541628|REF_RGD_ID:2317658 12383470 IL10 interleukin 10 gene DOID:4404 occupational dermatitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29477354 12383470 IL10 interleukin 10 gene DOID:4481 allergic rhinitis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:23883806|REF_RGD_ID:7364793 12383470 IL10 interleukin 10 gene DOID:4481 allergic rhinitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:23253209|REF_RGD_ID:7364818 12383470 IL10 interleukin 10 gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23826305|REF_RGD_ID:7365004 12383470 IL10 interleukin 10 gene DOID:4948 gallbladder carcinoma susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Cholelithiasis PMID:19065724|REF_RGD_ID:2317654 12383470 IL10 interleukin 10 gene DOID:4989 pancreatitis ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19399939|REF_RGD_ID:2306925 12383470 IL10 interleukin 10 gene DOID:5041 esophageal cancer treatment ISO RGD:735591 D RGD:9068941 20220715 RGD PMID:26603620|REF_RGD_ID:152998997 12383470 IL10 interleukin 10 gene DOID:5082 liver cirrhosis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (rs1800896) (human) PMID:26909998|REF_RGD_ID:14975152 12383470 IL10 interleukin 10 gene DOID:5082 liver cirrhosis no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) PMID:26909998|REF_RGD_ID:14975152 12383470 IL10 interleukin 10 gene DOID:5082 liver cirrhosis no_association ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNP:promoter:-1082 G>A (human) PMID:27660094|REF_RGD_ID:14975134 12383470 IL10 interleukin 10 gene DOID:5082 liver cirrhosis severity ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNP:promoter:-592C>A (human) PMID:27660094|REF_RGD_ID:14975134 12383470 IL10 interleukin 10 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735591 D RGD:7240710 20230517 OMIM 12383470 IL10 interleukin 10 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735591 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:11121048|PMID:14657422|PMID:14657427|PMID:25741868|PMID:28492532 12383470 IL10 interleukin 10 gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:10666520|REF_RGD_ID:7365087 12383470 IL10 interleukin 10 gene DOID:5419 schizophrenia ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:11922883|REF_RGD_ID:1580481 12383470 IL10 interleukin 10 gene DOID:552 pneumonia disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:20595152|REF_RGD_ID:4140400 12383470 IL10 interleukin 10 gene DOID:5679 retinal disease ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:21273540|REF_RGD_ID:7364850 12383470 IL10 interleukin 10 gene DOID:5679 retinal disease treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:23720065|REF_RGD_ID:7364808 12383470 IL10 interleukin 10 gene DOID:5844 myocardial infarction ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15883752|PMID:16310260 12383470 IL10 interleukin 10 gene DOID:5844 myocardial infarction susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:15466015|REF_RGD_ID:1598480 12383470 IL10 interleukin 10 gene DOID:6000 congestive heart failure ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:28939262|REF_RGD_ID:14975271 12383470 IL10 interleukin 10 gene DOID:6000 congestive heart failure disease_progression ISO RGD:2886 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cardiac ventricle (rat) PMID:16461369|REF_RGD_ID:1598465 12383470 IL10 interleukin 10 gene DOID:6000 congestive heart failure treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23778495|REF_RGD_ID:7365020 12383470 IL10 interleukin 10 gene DOID:630 genetic disease ISO RGD:735591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12383470 IL10 interleukin 10 gene DOID:6432 pulmonary hypertension disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20713898|REF_RGD_ID:4142530 12383470 IL10 interleukin 10 gene DOID:684 hepatocellular carcinoma ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:26890368|REF_RGD_ID:14975171 12383470 IL10 interleukin 10 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23822114|REF_RGD_ID:7365006 12383470 IL10 interleukin 10 gene DOID:686 liver carcinoma ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) PMID:28763918|REF_RGD_ID:14975157 12383470 IL10 interleukin 10 gene DOID:7148 rheumatoid arthritis ISO RGD:735591 D RGD:7240710 20230517 OMIM 12383470 IL10 interleukin 10 gene DOID:7148 rheumatoid arthritis ISO RGD:735591 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis, progression of PMID:12847677|PMID:25741868|PMID:28492532 12383470 IL10 interleukin 10 gene DOID:718 autoimmune hemolytic anemia treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:12093879|REF_RGD_ID:11049457 12383470 IL10 interleukin 10 gene DOID:7693 abdominal aortic aneurysm ISO RGD:2886 D RGD:9068941 20201002 RGD protein:decreased expression:serum (rat) PMID:15238617|REF_RGD_ID:1302825 12383470 IL10 interleukin 10 gene DOID:7997 thyrotoxicosis ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19343192|REF_RGD_ID:2311054 12383470 IL10 interleukin 10 gene DOID:7998 hyperthyroidism ISO RGD:10785 D RGD:9068941 20200609 RGD associated with Graves Disease PMID:21474590|REF_RGD_ID:7364857 12383470 IL10 interleukin 10 gene DOID:7998 hyperthyroidism ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:24534949|REF_RGD_ID:11049472 12383470 IL10 interleukin 10 gene DOID:820 myocarditis ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:17042978|REF_RGD_ID:1598481 12383470 IL10 interleukin 10 gene DOID:820 myocarditis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD associated with Coxsackievirus Infections PMID:21333491|REF_RGD_ID:7364847 12383470 IL10 interleukin 10 gene DOID:824 periodontitis ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23843954|REF_RGD_ID:7364998 12383470 IL10 interleukin 10 gene DOID:824 periodontitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:27795360|REF_RGD_ID:14975132 12383470 IL10 interleukin 10 gene DOID:824 periodontitis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:30405072|REF_RGD_ID:14975259 12383470 IL10 interleukin 10 gene DOID:8337 appendicitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367942 12383470 IL10 interleukin 10 gene DOID:8437 intestinal obstruction ISO RGD:2886 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19377777|REF_RGD_ID:2311052 12383470 IL10 interleukin 10 gene DOID:8483 retinal artery occlusion susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) PMID:17438520|REF_RGD_ID:7365056 12383470 IL10 interleukin 10 gene DOID:850 lung disease ISO RGD:2886 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:19386070|REF_RGD_ID:2311048 12383470 IL10 interleukin 10 gene DOID:850 lung disease ISO RGD:2886 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury;protein:increased expression:lung PMID:20663303|REF_RGD_ID:4140396 12383470 IL10 interleukin 10 gene DOID:850 lung disease ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic PMID:20622590|REF_RGD_ID:4140398 12383470 IL10 interleukin 10 gene DOID:850 lung disease ISO RGD:735591 D RGD:9068941 20200806 RGD associated with HTLV-I Infections;protein:increased expression:bronchoalveolar lavage fluid: PMID:24292748|REF_RGD_ID:36947872 12383470 IL10 interleukin 10 gene DOID:8536 herpes zoster ISO RGD:735591 D RGD:9068941 20200609 RGD protein:decreased expression:: PMID:21954956|REF_RGD_ID:8663478 12383470 IL10 interleukin 10 gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:20305143|REF_RGD_ID:11049154 12383470 IL10 interleukin 10 gene DOID:8564 lip cancer ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:26723902|REF_RGD_ID:14975265 12383470 IL10 interleukin 10 gene DOID:8567 Hodgkin's lymphoma treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:21466366|REF_RGD_ID:11049168 12383470 IL10 interleukin 10 gene DOID:8577 ulcerative colitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18836448|PMID:20228799 12383470 IL10 interleukin 10 gene DOID:8577 ulcerative colitis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:26660358|PMID:28120341|REF_RGD_ID:14975153|REF_RGD_ID:14975255 12383470 IL10 interleukin 10 gene DOID:865 vasculitis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16504995|REF_RGD_ID:1598487 12383470 IL10 interleukin 10 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:22450025|REF_RGD_ID:11049491 12383470 IL10 interleukin 10 gene DOID:8677 perinatal necrotizing enterocolitis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23783008|REF_RGD_ID:7365018 12383470 IL10 interleukin 10 gene DOID:8717 decubitus ulcer ISO RGD:2886 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:26177082|REF_RGD_ID:11049489 12383470 IL10 interleukin 10 gene DOID:874 bacterial pneumonia severity ISO RGD:10785 D RGD:9068941 20200820 RGD PMID:25398094|REF_RGD_ID:38501102 12383470 IL10 interleukin 10 gene DOID:8778 Crohn's disease ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:29899181|REF_RGD_ID:14975133 12383470 IL10 interleukin 10 gene DOID:8778 Crohn's disease ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 12383470 IL10 interleukin 10 gene DOID:8778 Crohn's disease treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:11113068|REF_RGD_ID:11049181 12383470 IL10 interleukin 10 gene DOID:8893 psoriasis onset ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (human) PMID:11298547|REF_RGD_ID:7829824 12383470 IL10 interleukin 10 gene DOID:8924 autoimmune thrombocytopenic purpura disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-627C>A (human) PMID:25051072|REF_RGD_ID:11041894 12383470 IL10 interleukin 10 gene DOID:8924 autoimmune thrombocytopenic purpura disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:promoter:-1082A>G, -819C>T, -592C>A (human) PMID:22677268|REF_RGD_ID:11046267 12383470 IL10 interleukin 10 gene DOID:893 Wilson disease ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25002079 12383470 IL10 interleukin 10 gene DOID:8947 diabetic retinopathy ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16696964|REF_RGD_ID:1598486 12383470 IL10 interleukin 10 gene DOID:8947 diabetic retinopathy ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor PMID:18978347|REF_RGD_ID:2307061 12383470 IL10 interleukin 10 gene DOID:8947 diabetic retinopathy ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:22105495|REF_RGD_ID:7364856 12383470 IL10 interleukin 10 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:18988929|REF_RGD_ID:2307272 12383470 IL10 interleukin 10 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:29691718|REF_RGD_ID:14975124 12383470 IL10 interleukin 10 gene DOID:9000099 Experimental Colitis ISO RGD:10785 D RGD:9068941 20200609 RGD associated with Helicobacter Infections PMID:16982822|REF_RGD_ID:11049170 12383470 IL10 interleukin 10 gene DOID:9000099 Experimental Colitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:27815529|REF_RGD_ID:14975260 12383470 IL10 interleukin 10 gene DOID:9000099 Experimental Colitis treatment ISO RGD:2886 D RGD:9068941 20220623 RGD PMID:25727887|PMID:29572553|REF_RGD_ID:11049485|REF_RGD_ID:152995414 12383470 IL10 interleukin 10 gene DOID:9000173 Eye Burns treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:22553604|REF_RGD_ID:7364851 12383470 IL10 interleukin 10 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19222424 12383470 IL10 interleukin 10 gene DOID:9000656 Penetrating Wounds ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:26101070|REF_RGD_ID:11049529 12383470 IL10 interleukin 10 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:20406594|REF_RGD_ID:4140467 12383470 IL10 interleukin 10 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23968122|REF_RGD_ID:11049496 12383470 IL10 interleukin 10 gene DOID:9000855 Experimental Radiation Injuries treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23788042|REF_RGD_ID:7365012 12383470 IL10 interleukin 10 gene DOID:9000927 Alveolar Bone Loss treatment ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:26270535|REF_RGD_ID:11049527 12383470 IL10 interleukin 10 gene DOID:9000945 Ventilator-Induced Lung Injury treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:22106021|PMID:23890086|REF_RGD_ID:11049495|REF_RGD_ID:7364989 12383470 IL10 interleukin 10 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16035616|REF_RGD_ID:1598627 12383470 IL10 interleukin 10 gene DOID:9000998 Brain Injuries ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 12383470 IL10 interleukin 10 gene DOID:9000998 Brain Injuries severity ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:23075771|REF_RGD_ID:7364822 12383470 IL10 interleukin 10 gene DOID:9000998 Brain Injuries treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23971414|REF_RGD_ID:7364983 12383470 IL10 interleukin 10 gene DOID:9001004 Chronic Periodontitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:-592C>A, -819 C>T, -1082G>A (human) PMID:31055876|REF_RGD_ID:14975127 12383470 IL10 interleukin 10 gene DOID:9001044 Choroidal Neovascularization ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:16903779|REF_RGD_ID:7365068 12383470 IL10 interleukin 10 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:22802947|REF_RGD_ID:7364853 12383470 IL10 interleukin 10 gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:10785 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:22940620|REF_RGD_ID:7364825 12383470 IL10 interleukin 10 gene DOID:9001204 Dyspepsia ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-819C>A (rs1800871)(human) PMID:28965252|REF_RGD_ID:14975154 12383470 IL10 interleukin 10 gene DOID:9001204 Dyspepsia no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (rs1800896)(human) PMID:28965252|REF_RGD_ID:14975154 12383470 IL10 interleukin 10 gene DOID:9001472 Nasal Polyps ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:22462754|REF_RGD_ID:7364835 12383470 IL10 interleukin 10 gene DOID:9001488 Human Influenza susceptibility ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:20200252|REF_RGD_ID:4140426 12383470 IL10 interleukin 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12632514|PMID:15362042|PMID:16097045|PMID:16126171|PMID:16539848|PMID:16552806|PMID:16609999|PMID:16688825|PMID:18251166 12383470 IL10 interleukin 10 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23980370|PMID:24993843|REF_RGD_ID:11049490|REF_RGD_ID:7364982 12383470 IL10 interleukin 10 gene DOID:9001600 Wounds and Injuries ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:14715528|REF_RGD_ID:1598466 12383470 IL10 interleukin 10 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:serum, lymph PMID:19160132|REF_RGD_ID:2311060 12383470 IL10 interleukin 10 gene DOID:9001981 Weight Loss ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:24314293|PMID:27580383 12383470 IL10 interleukin 10 gene DOID:9001995 Actinic Cheilitis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:26723902|REF_RGD_ID:14975265 12383470 IL10 interleukin 10 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:21911118|REF_RGD_ID:7364839 12383470 IL10 interleukin 10 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphisms:promoter:g.-1082G>A, g.-819C>T, g.-592C>A (human) PMID:19031431|REF_RGD_ID:2308943 12383470 IL10 interleukin 10 gene DOID:9002211 Hyperalgesia ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:23957449|REF_RGD_ID:7364792 12383470 IL10 interleukin 10 gene DOID:9002211 Hyperalgesia ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17174526|PMID:7582491 12383470 IL10 interleukin 10 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:22820166|REF_RGD_ID:7364827 12383470 IL10 interleukin 10 gene DOID:9002211 Hyperalgesia treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:24077211|REF_RGD_ID:7364865 12383470 IL10 interleukin 10 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human) PMID:19573080|REF_RGD_ID:11049165 12383470 IL10 interleukin 10 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:22945689|REF_RGD_ID:11041895 12383470 IL10 interleukin 10 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:10638947|REF_RGD_ID:11049174 12383470 IL10 interleukin 10 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:19573080|REF_RGD_ID:11049165 12383470 IL10 interleukin 10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284379|PMID:17999153|PMID:18174250 12383470 IL10 interleukin 10 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:2886 D RGD:9068941 20200910 RGD PMID:19907173|REF_RGD_ID:13702882 12383470 IL10 interleukin 10 gene DOID:9002457 Experimental Arthritis ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:19193354|REF_RGD_ID:2311059 12383470 IL10 interleukin 10 gene DOID:9002457 Experimental Arthritis ISO RGD:2886 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:19169271|REF_RGD_ID:8662976 12383470 IL10 interleukin 10 gene DOID:9002457 Experimental Arthritis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20974942|PMID:22450443 12383470 IL10 interleukin 10 gene DOID:9002457 Experimental Arthritis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:15270736|REF_RGD_ID:1626677 12383470 IL10 interleukin 10 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:22052031|PMID:23140046|REF_RGD_ID:7193038|REF_RGD_ID:7364838 12383470 IL10 interleukin 10 gene DOID:9002720 Splenomegaly ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:19060266|REF_RGD_ID:7365027 12383470 IL10 interleukin 10 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23872438|REF_RGD_ID:7364993 12383470 IL10 interleukin 10 gene DOID:9002805 Enterocolitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17574631 12383470 IL10 interleukin 10 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 12383470 IL10 interleukin 10 gene DOID:9002906 Multiple Organ Failure ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10479408 12383470 IL10 interleukin 10 gene DOID:9003610 Asthenopia ISO RGD:10785 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20415740|REF_RGD_ID:7364861 12383470 IL10 interleukin 10 gene DOID:9003688 Toxoplasma Chorioretinitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:−1082G>A (human) PMID:18436829|REF_RGD_ID:7365046 12383470 IL10 interleukin 10 gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16807647|REF_RGD_ID:1598472 12383470 IL10 interleukin 10 gene DOID:9004009 Reperfusion Injury ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:12388354|PMID:19514843|REF_RGD_ID:2308950|REF_RGD_ID:5508171 12383470 IL10 interleukin 10 gene DOID:9004009 Reperfusion Injury ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18460982 12383470 IL10 interleukin 10 gene DOID:9004009 Reperfusion Injury ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16141682|REF_RGD_ID:1598625 12383470 IL10 interleukin 10 gene DOID:9004017 Chronic Hepatitis C ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) PMID:29247709|REF_RGD_ID:14975141 12383470 IL10 interleukin 10 gene DOID:9004017 Chronic Hepatitis C ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:26095186|REF_RGD_ID:14700655 12383470 IL10 interleukin 10 gene DOID:9004017 Chronic Hepatitis C no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter: rs3021094, rs3024498 (human) PMID:29247709|REF_RGD_ID:14975141 12383470 IL10 interleukin 10 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: PMID:26095186|REF_RGD_ID:14700655 12383470 IL10 interleukin 10 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:735591 D RGD:9068941 20200813 RGD PMID:25708446|REF_RGD_ID:38456002 12383470 IL10 interleukin 10 gene DOID:9004283 Transplant Rejection treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:22564629|REF_RGD_ID:7364833 12383470 IL10 interleukin 10 gene DOID:9004283 Transplant Rejection treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23870834|REF_RGD_ID:7364994 12383470 IL10 interleukin 10 gene DOID:9004283 Transplant Rejection treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:17275523|REF_RGD_ID:11049523 12383470 IL10 interleukin 10 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:735591 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12383470 IL10 interleukin 10 gene DOID:9004422 Chagas Cardiomyopathy treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:24055715|REF_RGD_ID:7364866 12383470 IL10 interleukin 10 gene DOID:9004484 Sepsis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:28108420|REF_RGD_ID:14975261 12383470 IL10 interleukin 10 gene DOID:9004484 Sepsis ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19371254|REF_RGD_ID:2311053 12383470 IL10 interleukin 10 gene DOID:9004484 Sepsis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11441115 12383470 IL10 interleukin 10 gene DOID:9004484 Sepsis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:27488951|REF_RGD_ID:14975262 12383470 IL10 interleukin 10 gene DOID:9004484 Sepsis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:24055021|REF_RGD_ID:7364867 12383470 IL10 interleukin 10 gene DOID:9004538 Hearing Loss treatment ISO RGD:10785 D RGD:9068941 20200609 RGD associated with Autoimmune Diseases PMID:21697956|REF_RGD_ID:7364842 12383470 IL10 interleukin 10 gene DOID:9004538 Hearing Loss treatment ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Meningitis, Pneumococcal PMID:22644021|REF_RGD_ID:7364829 12383470 IL10 interleukin 10 gene DOID:9004590 Acute Liver Failure ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-1082A>G (rs1800896), -819T>C (rs1800871), -592A>C (rs1800872) (human) PMID:30109600|REF_RGD_ID:14975142 12383470 IL10 interleukin 10 gene DOID:9004610 Acute Lung Injury ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Reperfusion Injury;protein:increased expression:lung, plasma PMID:23801594|REF_RGD_ID:7365008 12383470 IL10 interleukin 10 gene DOID:9004610 Acute Lung Injury ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (rs1800896) (human) PMID:30412745|REF_RGD_ID:14975158 12383470 IL10 interleukin 10 gene DOID:9004610 Acute Lung Injury no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs3021097 (human) PMID:30412745|REF_RGD_ID:14975158 12383470 IL10 interleukin 10 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23902576|REF_RGD_ID:7364984 12383470 IL10 interleukin 10 gene DOID:9004649 Heat Stroke ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 12383470 IL10 interleukin 10 gene DOID:9004932 Eales Disease ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:promoter PMID:20720222|REF_RGD_ID:7364860 12383470 IL10 interleukin 10 gene DOID:9004945 Ocular Toxoplasmosis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:19026704|REF_RGD_ID:7365028 12383470 IL10 interleukin 10 gene DOID:9005172 Lung Neoplasms ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14587096 12383470 IL10 interleukin 10 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14999141 12383470 IL10 interleukin 10 gene DOID:9005372 Inflammation ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:20304473|REF_RGD_ID:4140417 12383470 IL10 interleukin 10 gene DOID:9005372 Inflammation ISO RGD:10785 D RGD:9068941 20200609 RGD associated with Pneumonia PMID:20357828|REF_RGD_ID:4140420 12383470 IL10 interleukin 10 gene DOID:9005372 Inflammation ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23861957|REF_RGD_ID:7364996 12383470 IL10 interleukin 10 gene DOID:9005372 Inflammation ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422 12383470 IL10 interleukin 10 gene DOID:9005372 Inflammation ISO RGD:735591 D RGD:9068941 20200609 RGD associated with inflammatory bowel disease PMID:26802082|REF_RGD_ID:14975136 12383470 IL10 interleukin 10 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:18779928|REF_RGD_ID:2308946 12383470 IL10 interleukin 10 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increase expression:serum PMID:18787467|REF_RGD_ID:2308945 12383470 IL10 interleukin 10 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:18390724|REF_RGD_ID:7365052 12383470 IL10 interleukin 10 gene DOID:9005647 Experimental Autoimmune Uveitis disease_progression ISO RGD:2886 D RGD:9068941 20221222 RGD PMID:31209505|REF_RGD_ID:155791448 12383470 IL10 interleukin 10 gene DOID:9005647 Experimental Autoimmune Uveitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:16043105|PMID:18495789|REF_RGD_ID:7365044|REF_RGD_ID:7365069 12383470 IL10 interleukin 10 gene DOID:9005700 Airway Obstruction susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:17690329|REF_RGD_ID:4142510 12383470 IL10 interleukin 10 gene DOID:9005930 Endotoxemia ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:28664613|REF_RGD_ID:14975137 12383470 IL10 interleukin 10 gene DOID:9005930 Endotoxemia ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19302852|REF_RGD_ID:2311055 12383470 IL10 interleukin 10 gene DOID:9005930 Endotoxemia treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:27943364|REF_RGD_ID:14975170 12383470 IL10 interleukin 10 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 12383470 IL10 interleukin 10 gene DOID:9005941 Rhinosinusitis ISO RGD:735591 D RGD:9068941 20200609 RGD protein:decreased expression:blood, mononuclear cell PMID:23168151|REF_RGD_ID:7364820 12383470 IL10 interleukin 10 gene DOID:9005968 Neuralgia ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:16949747|REF_RGD_ID:1598632 12383470 IL10 interleukin 10 gene DOID:9005968 Neuralgia treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:25078297|REF_RGD_ID:11049468 12383470 IL10 interleukin 10 gene DOID:9005968 Neuralgia treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:24077211|REF_RGD_ID:7364865 12383470 IL10 interleukin 10 gene DOID:9006205 Animal Disease Models ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27580383|PMID:28411859 12383470 IL10 interleukin 10 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:28664613|REF_RGD_ID:14975137 12383470 IL10 interleukin 10 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:24079335|REF_RGD_ID:7364864 12383470 IL10 interleukin 10 gene DOID:9006549 Enterovirus Infections severity ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592A>C (rs1800872) (human) PMID:28843383|REF_RGD_ID:14975146 12383470 IL10 interleukin 10 gene DOID:9006623 Murine Acquired Immunodeficiency Syndrome ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:23415673|REF_RGD_ID:7364815 12383470 IL10 interleukin 10 gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:11359436|PMID:15240742|REF_RGD_ID:7365075|REF_RGD_ID:7365084 12383470 IL10 interleukin 10 gene DOID:9006642 Experimental Autoimmune Uveoretinitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:22629453|REF_RGD_ID:7364830 12383470 IL10 interleukin 10 gene DOID:9006642 Experimental Autoimmune Uveoretinitis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:21296818|REF_RGD_ID:7364849 12383470 IL10 interleukin 10 gene DOID:9006644 Retroviridae Infections ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:11369878|REF_RGD_ID:11049463 12383470 IL10 interleukin 10 gene DOID:9006709 Primary Graft Dysfunction treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:21911153|REF_RGD_ID:11049478 12383470 IL10 interleukin 10 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735591 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 12383470 IL10 interleukin 10 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23843977|REF_RGD_ID:7247697 12383470 IL10 interleukin 10 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:23878501|REF_RGD_ID:7364804 12383470 IL10 interleukin 10 gene DOID:9007096 Stroke ISO RGD:2886 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:23981596|REF_RGD_ID:7364869 12383470 IL10 interleukin 10 gene DOID:9007096 Stroke no_association ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16323614|REF_RGD_ID:1598623 12383470 IL10 interleukin 10 gene DOID:9007096 Stroke severity ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:15894335|REF_RGD_ID:1598629 12383470 IL10 interleukin 10 gene DOID:9007096 Stroke treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23786953|REF_RGD_ID:7365015 12383470 IL10 interleukin 10 gene DOID:9007204 Dysbiosis treatment ISO RGD:2886 D RGD:9068941 20200903 RGD PMID:32227764|REF_RGD_ID:38549571 12383470 IL10 interleukin 10 gene DOID:9007329 Human Viral Hepatitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-1082A>G (rs1800896), -819T>C (rs1800871), -592A>C (rs1800872) (human) PMID:30109600|REF_RGD_ID:14975142 12383470 IL10 interleukin 10 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:25323753|REF_RGD_ID:11049477 12383470 IL10 interleukin 10 gene DOID:9007651 Chronic Bronchitis ISO RGD:2886 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:19507274|REF_RGD_ID:2308951 12383470 IL10 interleukin 10 gene DOID:9007730 Burns ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18277951 12383470 IL10 interleukin 10 gene DOID:9007730 Burns treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:22341647|REF_RGD_ID:11049470 12383470 IL10 interleukin 10 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19275881|REF_RGD_ID:2311056 12383470 IL10 interleukin 10 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23840272|REF_RGD_ID:7365001 12383470 IL10 interleukin 10 gene DOID:9007871 Malignant Pleural Effusions ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:30695099|REF_RGD_ID:14975123 12383470 IL10 interleukin 10 gene DOID:9008103 Seasonal Allergic Rhinitis treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:19505388|REF_RGD_ID:7365025 12383470 IL10 interleukin 10 gene DOID:9008208 Heparin-induced Thrombocytopenia ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:repeats, haplotype:promoter PMID:22239992|REF_RGD_ID:11049164 12383470 IL10 interleukin 10 gene DOID:9008208 Heparin-induced Thrombocytopenia no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human) PMID:22239992|REF_RGD_ID:11049164 12383470 IL10 interleukin 10 gene DOID:9008227 Pregnancy-associated Malaria ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:24717969|REF_RGD_ID:11041890 12383470 IL10 interleukin 10 gene DOID:9008763 Femoral Fractures ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21442011|REF_RGD_ID:5131471 12383470 IL10 interleukin 10 gene DOID:9008865 Entamoebiasis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16374615 12383470 IL10 interleukin 10 gene DOID:9008885 Staphylococcal Infections treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23993644|REF_RGD_ID:7364979 12383470 IL10 interleukin 10 gene DOID:9008939 Breast Neoplasms ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29582634 12383470 IL10 interleukin 10 gene DOID:9065 leishmaniasis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16540374|PMID:20404924 12383470 IL10 interleukin 10 gene DOID:9074 systemic lupus erythematosus ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838195|PMID:20728533 12383470 IL10 interleukin 10 gene DOID:9074 systemic lupus erythematosus ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:12486603|REF_RGD_ID:1580478 12383470 IL10 interleukin 10 gene DOID:9111 cutaneous leishmaniasis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20102417 12383470 IL10 interleukin 10 gene DOID:9111 cutaneous leishmaniasis ISO RGD:735591 D RGD:9068941 20200806 RGD mRNA:increased expression:Peripheral blood mononuclear cell: PMID:29205403|REF_RGD_ID:38455981 12383470 IL10 interleukin 10 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:23357299|REF_RGD_ID:11046264 12383470 IL10 interleukin 10 gene DOID:9146 visceral leishmaniasis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15716043|PMID:17404324|PMID:22461696 12383470 IL10 interleukin 10 gene DOID:9146 visceral leishmaniasis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:29745990|REF_RGD_ID:14975172 12383470 IL10 interleukin 10 gene DOID:916 liver benign neoplasm treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:25168696|REF_RGD_ID:11049493 12383470 IL10 interleukin 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12383470 IL10 interleukin 10 gene DOID:9351 diabetes mellitus ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:22802947|REF_RGD_ID:7364853 12383470 IL10 interleukin 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:28843383|REF_RGD_ID:14975146 12383470 IL10 interleukin 10 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:g.-1082G>A, g.-819C>T, g.-592C>A (human) PMID:19031431|REF_RGD_ID:2308943 12383470 IL10 interleukin 10 gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:2886 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 12383470 IL10 interleukin 10 gene DOID:9452 fatty liver disease ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:18267346|REF_RGD_ID:2308948 12383470 IL10 interleukin 10 gene DOID:9478 postpartum depression ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:17033197|REF_RGD_ID:1598630 12383470 IL10 interleukin 10 gene DOID:9498 pulmonary eosinophilia ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20796249|REF_RGD_ID:4140455 12383470 IL10 interleukin 10 gene DOID:9538 multiple myeloma ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP, polymorphisms:promoter:-1082G>A, (human) PMID:11307152|REF_RGD_ID:11041888 12383470 IL10 interleukin 10 gene DOID:9538 multiple myeloma disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11022130|REF_RGD_ID:11049458 12383470 IL10 interleukin 10 gene DOID:9663 aphthous stomatitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (rs1800896) (human) PMID:27266194|REF_RGD_ID:14975145 12383470 IL10 interleukin 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430480 12383470 IL10 interleukin 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:17997340|REF_RGD_ID:2308949 12383470 IL10 interleukin 10 gene DOID:9778 irritable bowel syndrome ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12404228 12383470 IL10 interleukin 10 gene DOID:9784 trichinosis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:23465441|REF_RGD_ID:11049476 12383470 IL10 interleukin 10 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735591 D RGD:9068941 20200609 RGD protein:decreased expression:blood PMID:21653647|REF_RGD_ID:11049158 12383470 IL10 interleukin 10 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:15860861|REF_RGD_ID:11049169 12383470 IL10 interleukin 10 gene DOID:9970 obesity ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increase expression:serum PMID:18787467|REF_RGD_ID:2308945 12383470 IL10 interleukin 10 gene DOID:9970 obesity ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:28843383|REF_RGD_ID:14975146 12383479 GNA11 G protein subunit alpha 11 gene DOID:0060701 familial hypocalciuric hypercalcemia 2 ISO RGD:1342605 D RGD:7240710 20220921 OMIM 12383479 GNA11 G protein subunit alpha 11 gene DOID:0060701 familial hypocalciuric hypercalcemia 2 ISO RGD:1342605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 PMID:17576681|PMID:23802516|PMID:23802536|PMID:25741868|PMID:26729423|PMID:28194446|PMID:28492532|PMID:9536098 12383479 GNA11 G protein subunit alpha 11 gene DOID:0080351 CLOVES syndrome ISO RGD:1342605 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi PMID:25741868|PMID:27476652 12383479 GNA11 G protein subunit alpha 11 gene DOID:0090108 autosomal dominant hypocalcemia 2 ISO RGD:1342605 D RGD:7240710 20220921 OMIM 12383479 GNA11 G protein subunit alpha 11 gene DOID:0090108 autosomal dominant hypocalcemia 2 ISO RGD:1342605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 2 PMID:23802516|PMID:23802536|PMID:24823460|PMID:25741868|PMID:26994139|PMID:28194446|PMID:28492532|PMID:6278146 12383479 GNA11 G protein subunit alpha 11 gene DOID:0111529 familial multiple nevi flammei ISO RGD:1342605 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Capillary malformations, congenital PMID:25741868|PMID:27476652 12383479 GNA11 G protein subunit alpha 11 gene DOID:1682 congenital heart disease ISO RGD:1342605 D RGD:9068941 20220922 CTD CTD Direct Evidence: marker/mechanism PMID:9687499 12383479 GNA11 G protein subunit alpha 11 gene DOID:1909 melanoma ISO RGD:1342605 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:1328859|PMID:21083380|PMID:21444680|PMID:22733540|PMID:22808163|PMID:24141786|PMID:25157968|PMID:2549426|PMID:25741868|PMID:26619011 12383479 GNA11 G protein subunit alpha 11 gene DOID:6039 uveal melanoma ISO RGD:1342605 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Uveal melanoma PMID:1328859|PMID:21083380|PMID:21444680|PMID:22733540|PMID:22808163|PMID:24141786|PMID:25157968|PMID:2549426|PMID:25741868|PMID:26619011 12383479 GNA11 G protein subunit alpha 11 gene DOID:630 genetic disease ISO RGD:1342605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12383479 GNA11 G protein subunit alpha 11 gene DOID:8923 skin melanoma ISO RGD:1342605 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:1328859|PMID:21083380|PMID:21444680|PMID:22733540|PMID:22808163|PMID:24141786|PMID:25157968|PMID:2549426|PMID:25741868|PMID:26619011 12383479 GNA11 G protein subunit alpha 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342605 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12383479 GNA11 G protein subunit alpha 11 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1551128 D RGD:9068941 20220922 RGD PMID:9687499|REF_RGD_ID:737757 12383480 POLR1C RNA polymerase I and III subunit C gene DOID:0050427 xeroderma pigmentosum ISO RGD:1320170 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:10398605|PMID:10871396|PMID:11121129|PMID:17344931|PMID:18368133|PMID:18703314|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30414346|PMID:33558524 12383480 POLR1C RNA polymerase I and III subunit C gene DOID:0050444 infantile Refsum disease ISO RGD:1320170 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12383480 POLR1C RNA polymerase I and III subunit C gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:28492532 12383480 POLR1C RNA polymerase I and III subunit C gene DOID:0060792 hypomyelinating leukodystrophy 11 ISO RGD:1320170 D RGD:7240710 20180130 OMIM 12383480 POLR1C RNA polymerase I and III subunit C gene DOID:0060792 hypomyelinating leukodystrophy 11 ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11 PMID:11013442|PMID:21131976|PMID:22563501|PMID:22855961|PMID:25741868|PMID:26151409|PMID:26467025|PMID:28327206|PMID:28492532|PMID:29567474|PMID:30311386|PMID:30505682|PMID:30957429|PMID:32042905|PMID:33804237|PMID:610060 12383480 POLR1C RNA polymerase I and III subunit C gene DOID:0080205 CAKUT ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:27657687 12383480 POLR1C RNA polymerase I and III subunit C gene DOID:0080791 Treacher Collins syndrome 3 ISO RGD:1320170 D RGD:7240710 20180130 OMIM 12383480 POLR1C RNA polymerase I and III subunit C gene DOID:0080791 Treacher Collins syndrome 3 ISO RGD:1320170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: POLR1C-Related Disorders | ClinVar Annotator: match by term: Treacher Collins Syndrome, Recessive | ClinVar Annotator: match by term: Treacher Collins syndrome 3 PMID:11013442|PMID:17576681|PMID:21131976|PMID:22563501|PMID:22855961|PMID:24942156|PMID:25741868|PMID:26151409|PMID:26467025|PMID:28327206|PMID:28492532|PMID:29567474|PMID:30311386|PMID:30957429|PMID:32042905|PMID:33804237|PMID:610060|PMID:9536098 12383480 POLR1C RNA polymerase I and III subunit C gene DOID:0110601 primary ciliary dyskinesia 12 ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 12 PMID:19200523|PMID:23993197|PMID:24033266|PMID:25741868|PMID:28492532 12383480 POLR1C RNA polymerase I and III subunit C gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Iron accumulation in brain PMID:32581362 12383480 POLR1C RNA polymerase I and III subunit C gene DOID:0110847 xeroderma pigmentosum variant type ISO RGD:1320170 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum variant type PMID:10385124|PMID:10398605|PMID:10871396|PMID:11121129|PMID:17344931|PMID:18368133|PMID:18703314|PMID:24033266|PMID:24130121|PMID:25741868|PMID:26884178|PMID:27004399|PMID:28202063|PMID:28492532|PMID:30414346|PMID:33558524|PMID:35111200|PMID:36308448 12383480 POLR1C RNA polymerase I and III subunit C gene DOID:0111479 combined oxidative phosphorylation deficiency 8 ISO RGD:1320170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC MITOCHONDRIAL, FATAL INFANTILE | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8 PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27734837|PMID:27749956|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:29749055|PMID:29971983|PMID:30054184|PMID:30285085|PMID:30819764|PMID:31099476|PMID:31106991|PMID:31885218|PMID:35305867 12383480 POLR1C RNA polymerase I and III subunit C gene DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity ISO RGD:1320170 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations PMID:35325049 12383480 POLR1C RNA polymerase I and III subunit C gene DOID:1098 fetal erythroblastosis ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal Erythroblastosis 12383480 POLR1C RNA polymerase I and III subunit C gene DOID:11713 diabetic angiopathy ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 1 PMID:11978667 12383480 POLR1C RNA polymerase I and III subunit C gene DOID:1612 breast cancer ISO RGD:1320170 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532|PMID:30414346|PMID:33558524 12383480 POLR1C RNA polymerase I and III subunit C gene DOID:1936 atherosclerosis ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atherosclerosis, susceptibility to PMID:15732116|PMID:15937083|PMID:18413368 12383480 POLR1C RNA polymerase I and III subunit C gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 12383480 POLR1C RNA polymerase I and III subunit C gene DOID:630 genetic disease ISO RGD:1320170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11013442|PMID:17576681|PMID:21131976|PMID:21549344|PMID:22277967|PMID:22855961|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:26151409|PMID:27734837|PMID:27749956|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:29567474|PMID:29749055|PMID:29971983|PMID:30285085|PMID:30957429|PMID:31099476|PMID:31885218|PMID:32042905|PMID:32080176|PMID:32319008|PMID:32581362|PMID:33804237|PMID:35305867|PMID:610060|PMID:9536098 12383480 POLR1C RNA polymerase I and III subunit C gene DOID:9000096 Lung Agenesis ISO RGD:1320170 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pulmonary hypoplasia PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:29971983|PMID:30285085|PMID:30819764|PMID:31106991 12383480 POLR1C RNA polymerase I and III subunit C gene DOID:9004538 Hearing Loss ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:22855961|PMID:25741868|PMID:26151409|PMID:28492532|PMID:30311386|PMID:32042905|PMID:33804237|PMID:610060 12383480 POLR1C RNA polymerase I and III subunit C gene DOID:9004768 Carey-Fineman-Ziter Syndrome 2 ISO RGD:1320170 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 PMID:35642635 12383480 POLR1C RNA polymerase I and III subunit C gene DOID:9005019 JABERI-ELAHI SYNDROME ISO RGD:1320170 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Jaberi-Elahi syndrome PMID:25741868|PMID:29449720|PMID:30790272|PMID:32860008 12383480 POLR1C RNA polymerase I and III subunit C gene DOID:9006658 Progressive Leukoencephalopathy, with Ovarian Failure ISO RGD:1320170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy, progressive, with ovarian failure PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27734837|PMID:27749956|PMID:28492532|PMID:29440775|PMID:29749055|PMID:29971983|PMID:30285085|PMID:30819764|PMID:31099476|PMID:31885218|PMID:33972171|PMID:35084689|PMID:35305867 12383480 POLR1C RNA polymerase I and III subunit C gene DOID:9008003 Mandibulofacial Dysostosis ISO RGD:1320170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21131976 12383480 POLR1C RNA polymerase I and III subunit C gene DOID:9008469 Hypomyelinating Leukodystrophy 26 ISO RGD:1320170 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia PMID:35325049 12383480 POLR1C RNA polymerase I and III subunit C gene DOID:905 Zellweger syndrome ISO RGD:1320170 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12383480 POLR1C RNA polymerase I and III subunit C gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320170 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:19200523|PMID:22384920|PMID:23993197|PMID:24033266|PMID:24307375|PMID:25741868|PMID:25789548|PMID:28492532|PMID:30067075 12383496 GEMIN6 gem nuclear organelle associated protein 6 gene DOID:0080690 RASopathy ISO RGD:1322484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12383496 GEMIN6 gem nuclear organelle associated protein 6 gene DOID:3883 Lynch syndrome ISO RGD:1322484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12383496 GEMIN6 gem nuclear organelle associated protein 6 gene DOID:630 genetic disease ISO RGD:1322484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383506 TMF1 TATA element modulatory factor 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:732153 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12383506 TMF1 TATA element modulatory factor 1 gene DOID:630 genetic disease ISO RGD:732153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383506 TMF1 TATA element modulatory factor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732153 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 12383527 PARP11 poly(ADP-ribose) polymerase family member 11 gene DOID:630 genetic disease ISO RGD:1344916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383527 PARP11 poly(ADP-ribose) polymerase family member 11 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1344916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12383542 DPCD deleted in primary ciliary dyskinesia homolog gene DOID:0090020 split hand-foot malformation ISO RGD:1601768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation PMID:21681106 12383542 DPCD deleted in primary ciliary dyskinesia homolog gene DOID:10908 hydrocephalus ISO RGD:1316961 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 12383542 DPCD deleted in primary ciliary dyskinesia homolog gene DOID:630 genetic disease ISO RGD:1601768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383542 DPCD deleted in primary ciliary dyskinesia homolog gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316961 D RGD:9068941 20220825 MouseDO 12383555 KIAA2013 KIAA2013 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12383555 KIAA2013 KIAA2013 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602668 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12383555 KIAA2013 KIAA2013 gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:1602668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 PMID:28492532 12383555 KIAA2013 KIAA2013 gene DOID:630 genetic disease ISO RGD:1602668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383555 KIAA2013 KIAA2013 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1602668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 12383562 SERPINI1 serpin family I member 1 gene DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies ISO RGD:731505 D RGD:7240710 20180130 OMIM 12383562 SERPINI1 serpin family I member 1 gene DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies ISO RGD:731505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies PMID:11138927|PMID:11880376|PMID:12103288|PMID:15090543|PMID:17576681|PMID:18591508|PMID:18940798|PMID:19549782|PMID:21435071|PMID:23814041|PMID:25401298|PMID:25741868|PMID:26367528|PMID:26467025|PMID:28363799|PMID:28492532|PMID:28518168|PMID:28631894|PMID:29249370|PMID:32461654|PMID:9536098 12383562 SERPINI1 serpin family I member 1 gene DOID:0060669 cerebral cavernous malformation ISO RGD:731505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 12383562 SERPINI1 serpin family I member 1 gene DOID:0060671 cerebral cavernous malformation 3 ISO RGD:731505 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 3 12383562 SERPINI1 serpin family I member 1 gene DOID:630 genetic disease ISO RGD:731505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:28518168|PMID:32461654 12383562 SERPINI1 serpin family I member 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:731505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 12383562 SERPINI1 serpin family I member 1 gene DOID:9006534 Nervous System Malformations ISO RGD:731505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:12103288|PMID:18591508|PMID:18940798|PMID:19549782|PMID:23814041|PMID:25401298|PMID:25741868|PMID:26367528|PMID:28363799|PMID:28492532|PMID:28631894 12383582 MAK male germ cell associated kinase gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:733464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 13 with adult I phenotype PMID:28492532 12383582 MAK male germ cell associated kinase gene DOID:0110380 retinitis pigmentosa 62 ISO RGD:733464 D RGD:7240710 20180130 OMIM 12383582 MAK male germ cell associated kinase gene DOID:0110380 retinitis pigmentosa 62 ISO RGD:733464 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 62 PMID:16199547|PMID:21148103|PMID:21825139|PMID:21835304|PMID:24938718|PMID:25385675|PMID:25741868|PMID:28492532|PMID:29781741|PMID:31456290 12383582 MAK male germ cell associated kinase gene DOID:10584 retinitis pigmentosa ISO RGD:733464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:21148103|PMID:21825139|PMID:21835304|PMID:24938718|PMID:25324289|PMID:25385675|PMID:25741868|PMID:28492532|PMID:28559085|PMID:29103961|PMID:29781741|PMID:30718709|PMID:31456290|PMID:33576794 12383582 MAK male germ cell associated kinase gene DOID:630 genetic disease ISO RGD:733464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12383582 MAK male germ cell associated kinase gene DOID:8501 fundus dystrophy ISO RGD:733464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:21148103|PMID:21825139|PMID:24938718|PMID:25741868|PMID:28492532|PMID:28559085|PMID:29103961|PMID:29781741|PMID:32531858 12383607 PBLD phenazine biosynthesis like protein domain containing gene DOID:0060071 pre-malignant neoplasm ISO RGD:1606247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12383607 PBLD phenazine biosynthesis like protein domain containing gene DOID:630 genetic disease ISO RGD:1606247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383624 KIF1B kinesin family member 1B gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:732615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 12383624 KIF1B kinesin family member 1B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732615 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:17576681|PMID:18334619|PMID:24033266|PMID:24469107|PMID:25025039|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29590070|PMID:30126838|PMID:32376792|PMID:9536098 12383624 KIF1B kinesin family member 1B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732615 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:17576681|PMID:18334619|PMID:24033266|PMID:24469107|PMID:24694336|PMID:25025039|PMID:25741868|PMID:26257172|PMID:26392352|PMID:28166811|PMID:28492532|PMID:29590070|PMID:30126838|PMID:30487145|PMID:31130284|PMID:32376792|PMID:32419263|PMID:33362715|PMID:9536098 12383624 KIF1B kinesin family member 1B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:16199547|PMID:17576681|PMID:18334619|PMID:24033266|PMID:24469107|PMID:24694336|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26257172|PMID:26392352|PMID:28492532|PMID:29590070|PMID:30126838|PMID:30487145|PMID:31130284|PMID:32376792|PMID:32419263|PMID:33362715|PMID:34169998|PMID:9536098 12383624 KIF1B kinesin family member 1B gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:732615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 12383624 KIF1B kinesin family member 1B gene DOID:0050771 pheochromocytoma ISO RGD:732615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:18334619|PMID:18726616|PMID:24033266|PMID:24469107|PMID:25741868|PMID:26392352|PMID:28492532|PMID:28637693|PMID:32376792 12383624 KIF1B kinesin family member 1B gene DOID:0050890 synucleinopathy ISO RGD:621520 D RGD:9068941 20200609 RGD protein:decreased expression:striatum, membrane (rat) PMID:19295143|REF_RGD_ID:11049591 12383624 KIF1B kinesin family member 1B gene DOID:0050892 adrenal gland pheochromocytoma ISO RGD:732615 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Adrenal gland pheochromocytoma PMID:25741868 12383624 KIF1B kinesin family member 1B gene DOID:0060249 scoliosis ISO RGD:732615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868 12383624 KIF1B kinesin family member 1B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732615 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12383624 KIF1B kinesin family member 1B gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:732615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Guérin-Stern syndrome PMID:25741868 12383624 KIF1B kinesin family member 1B gene DOID:0110154 Charcot-Marie-Tooth disease type 2A1 ISO RGD:732615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A1 PMID:11389829|PMID:17576681|PMID:18334619|PMID:24033266|PMID:24469107|PMID:24694336|PMID:25025039|PMID:25741868|PMID:28492532|PMID:29590070|PMID:30126838|PMID:32376792|PMID:9409358|PMID:9536098 12383624 KIF1B kinesin family member 1B gene DOID:0110154 Charcot-Marie-Tooth disease type 2A1 susceptibility ISO RGD:732615 D RGD:7240710 20230505 OMIM 12383624 KIF1B kinesin family member 1B gene DOID:0111194 autosomal dominant adult-onset proximal spinal muscular atrophy ISO RGD:732615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adult-onset proximal spinal muscular atrophy, autosomal dominant PMID:25741868|PMID:28492532 12383624 KIF1B kinesin family member 1B gene DOID:0111936 immunodeficiency 14 ISO RGD:732615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 12383624 KIF1B kinesin family member 1B gene DOID:1059 intellectual disability ISO RGD:732615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12383624 KIF1B kinesin family member 1B gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:17576681|PMID:18334619|PMID:24033266|PMID:24469107|PMID:24694336|PMID:25025039|PMID:25741868|PMID:28492532|PMID:29590070|PMID:30126838|PMID:32376792|PMID:9536098 12383624 KIF1B kinesin family member 1B gene DOID:12306 vitiligo ISO RGD:732615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Vitiligo PMID:25741868|PMID:28492532 12383624 KIF1B kinesin family member 1B gene DOID:1612 breast cancer ISO RGD:732615 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:18334619|PMID:24469107|PMID:24694336|PMID:25741868|PMID:28492532 12383624 KIF1B kinesin family member 1B gene DOID:2152 ovary epithelial cancer susceptibility ISO RGD:732615 D RGD:9068941 20200609 RGD DNA:snp:intron:c.2537+518A>G (rs17401966) (human) PMID:25854172|REF_RGD_ID:12738465 12383624 KIF1B kinesin family member 1B gene DOID:2377 multiple sclerosis ISO RGD:732615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18997785 12383624 KIF1B kinesin family member 1B gene DOID:2377 multiple sclerosis no_association ISO RGD:732615 D RGD:9068941 20200609 RGD DNA:snp:intron:c.1590+932T>C (rs10492972) (human) PMID:20502484|REF_RGD_ID:12738463 12383624 KIF1B kinesin family member 1B gene DOID:2377 multiple sclerosis susceptibility ISO RGD:732615 D RGD:9068941 20200609 RGD DNA:snp:intron:c.1590+932T>C (rs10492972) (human) PMID:18997785|REF_RGD_ID:12738462 12383624 KIF1B kinesin family member 1B gene DOID:2394 ovarian cancer ISO RGD:732615 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 12383624 KIF1B kinesin family member 1B gene DOID:332 amyotrophic lateral sclerosis ISO RGD:621520 D RGD:9068941 20200609 RGD mRNA:decreased expression:precentral gyrus (human) PMID:17418584|REF_RGD_ID:12738468 12383624 KIF1B kinesin family member 1B gene DOID:332 amyotrophic lateral sclerosis onset ISO RGD:1317949 D RGD:9068941 20200609 RGD mRNA:increased expression, decreased expression:spinal cord, sciatic nerve (mouse) PMID:24904291|REF_RGD_ID:12738469 12383624 KIF1B kinesin family member 1B gene DOID:630 genetic disease ISO RGD:732615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383624 KIF1B kinesin family member 1B gene DOID:684 hepatocellular carcinoma severity ISO RGD:732615 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver (human) PMID:26217094|REF_RGD_ID:11052488 12383624 KIF1B kinesin family member 1B gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732615 D RGD:9068941 20200609 RGD DNA:snp:intron:c.2537+518A>G (rs17401966) (human) PMID:27122668|REF_RGD_ID:12738461 12383624 KIF1B kinesin family member 1B gene DOID:769 neuroblastoma ISO RGD:732615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 1 PMID:18334619|PMID:18726616|PMID:24033266|PMID:24469107|PMID:24694336|PMID:25741868|PMID:28492532|PMID:28637693|PMID:30126838|PMID:30487145|PMID:32376792|PMID:33362715 12383624 KIF1B kinesin family member 1B gene DOID:769 neuroblastoma susceptibility ISO RGD:732615 D RGD:7240710 20190502 OMIM 12383624 KIF1B kinesin family member 1B gene DOID:9005077 Joint Instability ISO RGD:732615 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Joint laxity PMID:25741868|PMID:26392352|PMID:28492532 12383624 KIF1B kinesin family member 1B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18334619|PMID:18726616|PMID:24033266|PMID:24469107|PMID:24694336|PMID:25025039|PMID:25741868|PMID:26257172|PMID:26392352|PMID:28492532|PMID:28637693|PMID:29590070|PMID:30126838|PMID:30487145|PMID:31130284|PMID:32376792|PMID:32419263|PMID:32565791|PMID:33362715|PMID:34169998|PMID:9536098 12383624 KIF1B kinesin family member 1B gene DOID:9008086 Developmental Disabilities ISO RGD:732615 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay 12383677 TRAPPC8 trafficking protein particle complex subunit 8 gene DOID:1059 intellectual disability ISO RGD:1319254 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12383677 TRAPPC8 trafficking protein particle complex subunit 8 gene DOID:630 genetic disease ISO RGD:1319254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383719 HSPA2 heat shock protein family A (Hsp70) member 2 gene DOID:630 genetic disease ISO RGD:735843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383719 HSPA2 heat shock protein family A (Hsp70) member 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:735843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12383719 HSPA2 heat shock protein family A (Hsp70) member 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:735843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12383724 TBCC tubulin folding cofactor C gene DOID:0050444 infantile Refsum disease ISO RGD:1315555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12383724 TBCC tubulin folding cofactor C gene DOID:630 genetic disease ISO RGD:1315555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383724 TBCC tubulin folding cofactor C gene DOID:905 Zellweger syndrome ISO RGD:1315555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12383729 STARD3NL STARD3 N-terminal like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12383729 STARD3NL STARD3 N-terminal like gene DOID:630 genetic disease ISO RGD:1318520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383744 LBP lipopolysaccharide binding protein gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1347766 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 12383744 LBP lipopolysaccharide binding protein gene DOID:0050486 exanthem ISO RGD:1347766 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 12383744 LBP lipopolysaccharide binding protein gene DOID:13603 obstructive jaundice ISO RGD:61865 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:25093541|REF_RGD_ID:9685190 12383744 LBP lipopolysaccharide binding protein gene DOID:2234 focal epilepsy ISO RGD:1347766 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12383744 LBP lipopolysaccharide binding protein gene DOID:5082 liver cirrhosis ISO RGD:61865 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:17918268|REF_RGD_ID:2292126 12383744 LBP lipopolysaccharide binding protein gene DOID:630 genetic disease ISO RGD:1347766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383744 LBP lipopolysaccharide binding protein gene DOID:824 periodontitis ISO RGD:61865 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;mRNA:increased expression:gingiva PMID:23730973|REF_RGD_ID:9685198 12383744 LBP lipopolysaccharide binding protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347766 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 12383744 LBP lipopolysaccharide binding protein gene DOID:9002159 Liver Reperfusion Injury ISO RGD:61865 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:12134092|REF_RGD_ID:9685192 12383744 LBP lipopolysaccharide binding protein gene DOID:9002906 Multiple Organ Failure ISO RGD:1347766 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22167001 12383744 LBP lipopolysaccharide binding protein gene DOID:9004484 Sepsis ISO RGD:1347766 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22167001 12383744 LBP lipopolysaccharide binding protein gene DOID:9004657 Weight Gain ISO RGD:1347766 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12383744 LBP lipopolysaccharide binding protein gene DOID:9005930 Endotoxemia ISO RGD:61865 D RGD:9068941 20200609 RGD mRNA:increased expression:hepatocyte PMID:8418776|REF_RGD_ID:9685191 12383744 LBP lipopolysaccharide binding protein gene DOID:9005930 Endotoxemia treatment ISO RGD:1347766 D RGD:9068941 20200609 RGD PMID:8593028|REF_RGD_ID:9685196 12383744 LBP lipopolysaccharide binding protein gene DOID:9005930 Endotoxemia treatment ISO RGD:62157 D RGD:9068941 20200609 RGD PMID:16307218|REF_RGD_ID:9685193 12383744 LBP lipopolysaccharide binding protein gene DOID:9006646 Metabolic Syndrome ISO RGD:1347766 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349936 12383744 LBP lipopolysaccharide binding protein gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347766 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12383744 LBP lipopolysaccharide binding protein gene DOID:9007730 Burns ISO RGD:61865 D RGD:9068941 20200609 RGD PMID:12435950|REF_RGD_ID:2313390 12383744 LBP lipopolysaccharide binding protein gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:61865 D RGD:9068941 20200609 RGD protein:increased expression:heart, kidney, liver, lung PMID:22493902|REF_RGD_ID:9685194 12383744 LBP lipopolysaccharide binding protein gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1347766 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 12383744 LBP lipopolysaccharide binding protein gene DOID:9970 obesity ISO RGD:1347766 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349936 12383744 LBP lipopolysaccharide binding protein gene DOID:9970 obesity treatment ISO RGD:61865 D RGD:9068941 20200609 RGD PMID:19917068|REF_RGD_ID:9685197 12383763 PHETA1 PH domain containing endocytic trafficking adaptor 1 gene DOID:630 genetic disease ISO RGD:1602835 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383763 PHETA1 PH domain containing endocytic trafficking adaptor 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1602835 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 12383769 HOXC13 homeobox C13 gene DOID:0111656 ectodermal dysplasia 9 ISO RGD:1349214 D RGD:7240710 20180130 OMIM 12383769 HOXC13 homeobox C13 gene DOID:0111656 ectodermal dysplasia 9 ISO RGD:1349214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 9, hair/nail type PMID:23063621|PMID:23315978|PMID:25741868 12383769 HOXC13 homeobox C13 gene DOID:0111658 ectodermal dysplasia 4 ISO RGD:1349214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24239177 12383769 HOXC13 homeobox C13 gene DOID:630 genetic disease ISO RGD:1349214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383769 HOXC13 homeobox C13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12383775 LPCAT3 lysophosphatidylcholine acyltransferase 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1604396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12383775 LPCAT3 lysophosphatidylcholine acyltransferase 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1604396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12383775 LPCAT3 lysophosphatidylcholine acyltransferase 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1604396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12383775 LPCAT3 lysophosphatidylcholine acyltransferase 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1604396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12383775 LPCAT3 lysophosphatidylcholine acyltransferase 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1604396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12383775 LPCAT3 lysophosphatidylcholine acyltransferase 3 gene DOID:630 genetic disease ISO RGD:1604396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383775 LPCAT3 lysophosphatidylcholine acyltransferase 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1604396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12383793 ACD ACD shelterin complex subunit and telomerase recruitment factor gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1351362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 12383793 ACD ACD shelterin complex subunit and telomerase recruitment factor gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1351362 D RGD:7240710 20180130 OMIM 12383793 ACD ACD shelterin complex subunit and telomerase recruitment factor gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1351362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:16199547|PMID:17576681|PMID:25205116|PMID:25233904|PMID:25505254|PMID:25741868|PMID:27807141|PMID:28492532|PMID:29843741|PMID:29891727|PMID:30064976|PMID:31515401|PMID:32325837|PMID:33822766|PMID:9536098 12383793 ACD ACD shelterin complex subunit and telomerase recruitment factor gene DOID:0111984 immunodeficiency 58 ISO RGD:1351362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency PMID:25741868 12383793 ACD ACD shelterin complex subunit and telomerase recruitment factor gene DOID:630 genetic disease ISO RGD:1351362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:29843741|PMID:31515401|PMID:9536098 12383793 ACD ACD shelterin complex subunit and telomerase recruitment factor gene DOID:9008958 Autosomal Recessive Dyskeratosis Congenita 7 ISO RGD:1351362 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 7 PMID:25205116|PMID:25233904|PMID:25741868|PMID:27807141|PMID:28492532|PMID:31515401|PMID:33822766 12383813 RPL3L ribosomal protein L3 like gene DOID:0050700 cardiomyopathy ISO RGD:1314865 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:32514796|PMID:32870709 12383813 RPL3L ribosomal protein L3 like gene DOID:0060224 atrial fibrillation ISO RGD:1314865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12383813 RPL3L ribosomal protein L3 like gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1314865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 12383813 RPL3L ribosomal protein L3 like gene DOID:0081160 dilated cardiomyopathy 2D ISO RGD:1314865 D RGD:7240710 20210616 OMIM 12383813 RPL3L ribosomal protein L3 like gene DOID:0081160 dilated cardiomyopathy 2D ISO RGD:1314865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2D PMID:25741868|PMID:32514796|PMID:32870709 12383813 RPL3L ribosomal protein L3 like gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1314865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12383813 RPL3L ribosomal protein L3 like gene DOID:1826 epilepsy ISO RGD:1314865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12383813 RPL3L ribosomal protein L3 like gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1314865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12383813 RPL3L ribosomal protein L3 like gene DOID:630 genetic disease ISO RGD:1314865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383813 RPL3L ribosomal protein L3 like gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1314865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:0050432 Asperger syndrome ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18197083 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:0050848 obstructive sleep apnea ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:polymorphism, repeat:promoter, intron (human) PMID:19014073|REF_RGD_ID:4889462 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:0050848 obstructive sleep apnea no_association ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:polymorphism, repeat:promoter, intron (human) PMID:15867649|REF_RGD_ID:4889466 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:0050848 obstructive sleep apnea no_association ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter (human) PMID:16215942|REF_RGD_ID:4889463 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:0060001 withdrawal disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17000009 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:0060041 autism spectrum disorder ISO RGD:11314 D RGD:9068941 20220825 MouseDO 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:0060041 autism spectrum disorder ISO RGD:732932 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:0060131 alexithymia susceptibility ISO RGD:732932 D RGD:9068941 20200813 RGD associated with Chronic Hepatitis C;DNA:repeats:promoter: PMID:26609890|REF_RGD_ID:11352995 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:0080855 Parkinsonism ISO RGD:3714 D RGD:9068941 20200609 RGD PMID:20447560|REF_RGD_ID:4889474 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:0111253 neurofibromatosis 1 ISO RGD:732932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:10933 obsessive-compulsive disorder ISO RGD:732932 D RGD:7240710 20180130 OMIM 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:10933 obsessive-compulsive disorder ISO RGD:732932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obsessive-compulsive disorder | ClinVar Annotator: match by term: Obsessive-compulsive disorder, susceptibility to | ClinVar Annotator: match by term: Serotonin transporter activity, increased/decreased PMID:11335745|PMID:11559314|PMID:11602621|PMID:11772685|PMID:12130784|PMID:12476327|PMID:12599191|PMID:12869649|PMID:12869766|PMID:12915525|PMID:12966525|PMID:14530202|PMID:14593431|PMID:14593433|PMID:14735161|PMID:15037864|PMID:15108187|PMID:15263905|PMID:15520364|PMID:15578606|PMID:15592465|PMID:15635638|PMID:15642926|PMID:15691525|PMID:15729746|PMID:15824745|PMID:15867107|PMID:15880108|PMID:15995945|PMID:16642437|PMID:17101915|PMID:19531786|PMID:25741868|PMID:7865169|PMID:8632190|PMID:8788073 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:1094 attention deficit hyperactivity disorder severity ISO RGD:732932 D RGD:9068941 20200806 RGD DNA:repeat:promoter: PMID:27430630|REF_RGD_ID:36947879 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:114 heart disease ISO RGD:11314 D RGD:9068941 20200609 RGD PMID:16380550|REF_RGD_ID:4889441 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:114 heart disease ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:insertion:promoter: (human) PMID:10381332|REF_RGD_ID:1580639 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:12206 dengue hemorrhagic fever severity ISO RGD:732932 D RGD:9068941 20200917 RGD DNA;polymorphism:5'utr: (rs25531) (human) PMID:30452889|REF_RGD_ID:38676265 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:12849 autistic disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16721604|PMID:17203304|PMID:17280648|PMID:20649385|PMID:9152989 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:12849 autistic disorder ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:11920155|REF_RGD_ID:9831148 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:12995 conduct disorder ISO RGD:732932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Behavior disorder PMID:12869649|PMID:14593431|PMID:15995945|PMID:18792946|PMID:18957375|PMID:19360675|PMID:19806148|PMID:28492532 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:14320 generalized anxiety disorder treatment ISO RGD:732932 D RGD:9068941 20200730 RGD DNA:repeats, haplotype:promoter: PMID:22907732|REF_RGD_ID:36947386 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:1470 major depressive disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16055263 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:1470 major depressive disorder no_association ISO RGD:732932 D RGD:9068941 20200730 RGD DNA:repeats:promoter: PMID:12872203|REF_RGD_ID:36947382 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:1470 major depressive disorder susceptibility ISO RGD:732932 D RGD:9068941 20200730 RGD DNA:SNPs, haplotypes:multiple PMID:19844206|REF_RGD_ID:5684911 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:1470 major depressive disorder treatment ISO RGD:732932 D RGD:9068941 20200806 RGD DNA:hypomethylation:promoter: PMID:24679990|REF_RGD_ID:36947871 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:1470 major depressive disorder treatment ISO RGD:732932 D RGD:9068941 20200813 RGD DNA:repeats:promoter: PMID:15812265|PMID:27439447|REF_RGD_ID:36947384|REF_RGD_ID:38456009 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:1470 major depressive disorder treatment ISO RGD:732932 D RGD:9068941 20201001 RGD DNA:repeats:promotor: PMID:12955294|REF_RGD_ID:39128240 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:1510 personality disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17000009 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:1561 cognitive disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23209555 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:1574 alcohol use disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15520362|PMID:17000009 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:1574 alcohol use disorder susceptibility ISO RGD:732932 D RGD:9068941 20200609 RGD protein:decreased activity: : PMID:20838391|REF_RGD_ID:6480660 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder ISO RGD:3714 D RGD:9068941 20200609 RGD PMID:18295409|REF_RGD_ID:4889509 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12898347|PMID:18458677|PMID:18686203|PMID:21843009 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder ISO RGD:732932 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive;DNA:SNP: :rs3794808 (human) PMID:20981038|REF_RGD_ID:4889426 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder ISO RGD:732932 D RGD:9068941 20200806 RGD DNA:hypomethylation:promoter PMID:20808944|REF_RGD_ID:36947395 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder ISO RGD:732932 D RGD:9068941 20200924 RGD associated with Chronic Hepatitis C; DNA:insertion/deletion:promoter: PMID:23571152|REF_RGD_ID:38676480 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder severity ISO RGD:732932 D RGD:9068941 20200730 RGD associated with Radiation Injuries;DNA:repeats:promoter: PMID:30582858|REF_RGD_ID:36947387 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder severity ISO RGD:732932 D RGD:9068941 20200806 RGD associated with breast cancer;DNA:repeat:promoter: PMID:22134442|REF_RGD_ID:36947877 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder susceptibility ISO RGD:732932 D RGD:9068941 20200813 RGD associated with Coronary Disease;DNA:repeats:promoter: PMID:23096047|REF_RGD_ID:38456010 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder treatment ISO RGD:732932 D RGD:9068941 20200806 RGD DNA:repeat:promoter: PMID:20664233|REF_RGD_ID:36947869 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:2030 anxiety disorder ISO RGD:732932 D RGD:7240710 20180130 OMIM 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:2030 anxiety disorder ISO RGD:732932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Serotonin transporter activity, increased/decreased PMID:11335745|PMID:11559314|PMID:11602621|PMID:11772685|PMID:12130784|PMID:12476327|PMID:12599191|PMID:12869766|PMID:12915525|PMID:12966525|PMID:14530202|PMID:14593433|PMID:14735161|PMID:15037864|PMID:15108187|PMID:15263905|PMID:15520364|PMID:15578606|PMID:15592465|PMID:15635638|PMID:15642926|PMID:15691525|PMID:15729746|PMID:15824745|PMID:15867107|PMID:15880108|PMID:16642437|PMID:17101915|PMID:19531786|PMID:7865169|PMID:8632190|PMID:8788073 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:2841 asthma susceptibility ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:repeat:intron (human) PMID:19806585|REF_RGD_ID:4889460 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:303 substance-related disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19272758 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:SNP: :rs2020936 (human) PMID:20981038|REF_RGD_ID:4889426 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:3312 bipolar disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11772685|PMID:16395126 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:3312 bipolar disorder ISO RGD:732932 D RGD:9068941 20200730 RGD DNA:repeats:promoter: PMID:10484962|REF_RGD_ID:36947381 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:3324 mood disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878141 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:732932 D RGD:9068941 20200806 RGD associated with alcohol use disorder;DNA:deletion:promoter:-1212_-1255 (human) PMID:11236836|REF_RGD_ID:36947396 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:5154 borna disease ISO RGD:3714 D RGD:9068941 20200903 RGD protein:increased expression:brain (rat) PMID:12106671|REF_RGD_ID:38549588 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:5419 schizophrenia ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:5434 scrapie susceptibility ISO RGD:11314 D RGD:9068941 20200924 RGD PMID:16730863|REF_RGD_ID:38676483 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:6000 congestive heart failure ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:repeat:promoter (human) PMID:17307423|REF_RGD_ID:4889438 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:630 genetic disease ISO RGD:732932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension ISO RGD:11314 D RGD:9068941 20200609 RGD associated with Anoxia PMID:19736308|REF_RGD_ID:4889432 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension ISO RGD:3714 D RGD:9068941 20200609 RGD PMID:18074800|PMID:19473340|REF_RGD_ID:4889435|REF_RGD_ID:4889437 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension ISO RGD:3714 D RGD:9068941 20200609 RGD associated with Anoxia PMID:11259539|REF_RGD_ID:4889445 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18506000 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension ISO RGD:732932 D RGD:9068941 20200609 RGD PMID:19736308|REF_RGD_ID:4889432 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension ISO RGD:732932 D RGD:9068941 20200609 RGD associated with Heart Septal Defects, Ventricular;DNA:polymorphisms (human) PMID:19886858|REF_RGD_ID:4889430 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension no_association ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:polymorphism, repeat:promoter, intron (human) PMID:16399993|REF_RGD_ID:4889440 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension onset ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:repeat:promoter (human) PMID:16339917|REF_RGD_ID:4889442 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension severity ISO RGD:732932 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive;DNA:polymorphism (human) PMID:19556740|REF_RGD_ID:4889434 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:670 amphetamine abuse ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19689456 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:7475 diverticulitis ISO RGD:732932 D RGD:9068941 20200903 RGD mRNA:decreased expression:colonic mucosa (human) PMID:18491196|REF_RGD_ID:38549586 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:8544 chronic fatigue syndrome ISO RGD:732932 D RGD:9068941 20200730 RGD DNA:repeats:promoter: PMID:14592408|REF_RGD_ID:36947383 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:8544 chronic fatigue syndrome ISO RGD:732932 D RGD:9068941 20200813 RGD protein:decreased expression:rostral anterior cingulate cortex (human) PMID:15570154|REF_RGD_ID:38500210 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:8544 chronic fatigue syndrome severity ISO RGD:732932 D RGD:9068941 20200730 RGD DNA:repeats, haplotype:promoter: PMID:26473596|REF_RGD_ID:11098915 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:9001204 Dyspepsia ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:22014438|REF_RGD_ID:6480658 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:9001204 Dyspepsia susceptibility ISO RGD:732932 D RGD:9068941 20200917 RGD DNA:haplotypes, multiple: PMID:24720453|REF_RGD_ID:36947385 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:9002669 Hypoxia ISO RGD:3714 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:11259539|REF_RGD_ID:4889445 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:9002953 Escherichia Coli Infections ISO RGD:11314 D RGD:9068941 20200730 RGD PMID:19747920|REF_RGD_ID:36947380 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:732932 D RGD:9068941 20200917 RGD associated with alexithymia;DNA:haplotypes, multiple: PMID:26609890|REF_RGD_ID:11352995 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:9004086 AIDS Dementia Complex ISO RGD:11314 D RGD:9068941 20200917 RGD PMID:25404050|REF_RGD_ID:38676266 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11320258 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:9005632 Cocaine-Related Disorders susceptibility ISO RGD:732932 D RGD:9068941 20200609 RGD protein:decreased activity: : PMID:20838391|REF_RGD_ID:6480660 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:9007 sudden infant death syndrome ISO RGD:11314 D RGD:9068941 20220825 MouseDO OMIM:272120 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:9007 sudden infant death syndrome ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12599191 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:9007730 Burns ISO RGD:3714 D RGD:9068941 20200609 RGD PMID:17711618|REF_RGD_ID:4889516 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:9008023 Memory Disorders ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18661256|PMID:18686203 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:9008114 Helicobacter Infections ISO RGD:732932 D RGD:9068941 20200730 RGD DNA:repeats:promoter: PMID:24720453|REF_RGD_ID:36947385 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:9008945 Gram-Negative Bacterial Infections ISO RGD:11314 D RGD:9068941 20200924 RGD protein:decreased expression:colon (mouse) PMID:16548890|REF_RGD_ID:38676481 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:9065 leishmaniasis ISO RGD:732932 D RGD:9068941 20200806 RGD lupoid leishmaniasis;protein:increased expression:skin of body (human) PMID:23989888|REF_RGD_ID:36947873 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:936 brain disease ISO RGD:732932 D RGD:9068941 20200903 RGD associated with hepatiis C;protein:increased binding:brain (human) PMID:21629258|REF_RGD_ID:38549583 12383844 SLC6A4 solute carrier family 6 member 4 gene DOID:9784 trichinosis ISO RGD:11314 D RGD:9068941 20200924 RGD protein:decreased expression:jejunum (mouse) PMID:16336502|REF_RGD_ID:38676482 12383874 CLDN19 claudin 19 gene DOID:0060880 renal hypomagnesemia 3 ISO RGD:1312766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive 12383874 CLDN19 claudin 19 gene DOID:0060881 renal hypomagnesemia 5 with ocular involvement ISO RGD:1312766 D RGD:7240710 20180130 OMIM 12383874 CLDN19 claudin 19 gene DOID:0060881 renal hypomagnesemia 5 with ocular involvement ISO RGD:1312766 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement PMID:17033971|PMID:18188451|PMID:22422540|PMID:23301036|PMID:25366522|PMID:25410674|PMID:25741868|PMID:27530400|PMID:28492532|PMID:28893421|PMID:33025205|PMID:33532864|PMID:34805638 12383874 CLDN19 claudin 19 gene DOID:0060882 renal hypomagnesemia 4 ISO RGD:1312766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive 12383874 CLDN19 claudin 19 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12383874 CLDN19 claudin 19 gene DOID:12679 nephrocalcinosis ISO RGD:1312766 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:25741868|PMID:28893421|PMID:33025205|PMID:34805638 12383874 CLDN19 claudin 19 gene DOID:630 genetic disease ISO RGD:1312766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12383889 TMEM256 transmembrane protein 256 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1606934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12383889 TMEM256 transmembrane protein 256 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1606934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 12383889 TMEM256 transmembrane protein 256 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1606934 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12383889 TMEM256 transmembrane protein 256 gene DOID:1059 intellectual disability ISO RGD:1606934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12383889 TMEM256 transmembrane protein 256 gene DOID:12177 common variable immunodeficiency ISO RGD:1606934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12383889 TMEM256 transmembrane protein 256 gene DOID:2729 dyskeratosis congenita ISO RGD:1606934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12383889 TMEM256 transmembrane protein 256 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1606934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12383889 TMEM256 transmembrane protein 256 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1606934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12383897 USP50 ubiquitin specific peptidase 50 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1343119 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28492532 12383897 USP50 ubiquitin specific peptidase 50 gene DOID:2717 Bloom syndrome ISO RGD:1343119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12383897 USP50 ubiquitin specific peptidase 50 gene DOID:630 genetic disease ISO RGD:1343119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383897 USP50 ubiquitin specific peptidase 50 gene DOID:9256 colorectal cancer ISO RGD:1343119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12383908 CLEC3B C-type lectin domain family 3 member B gene DOID:13300 Scheuermann's disease ISO RGD:1553639 D RGD:9068941 20220825 MouseDO OMIM:181440 12383908 CLEC3B C-type lectin domain family 3 member B gene DOID:630 genetic disease ISO RGD:1602501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383908 CLEC3B C-type lectin domain family 3 member B gene DOID:8398 osteoarthritis disease_progression ISO RGD:1602501 D RGD:9068941 20200609 RGD PMID:15334463|REF_RGD_ID:1625347 12383908 CLEC3B C-type lectin domain family 3 member B gene DOID:9005553 Retinal Macular Dystrophy 4 ISO RGD:1602501 D RGD:7240710 20220810 OMIM 12383908 CLEC3B C-type lectin domain family 3 member B gene DOID:9005553 Retinal Macular Dystrophy 4 ISO RGD:1602501 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Macular dystrophy, retinal, 4 PMID:35331648 12383915 CCBE1 collagen and calcium binding EGF domains 1 gene DOID:0060366 Hennekam syndrome ISO RGD:1349047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19911200|PMID:19935664 12383915 CCBE1 collagen and calcium binding EGF domains 1 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1349047 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 12383915 CCBE1 collagen and calcium binding EGF domains 1 gene DOID:0111988 immunodeficiency 12 ISO RGD:1349047 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 12383915 CCBE1 collagen and calcium binding EGF domains 1 gene DOID:1059 intellectual disability ISO RGD:1349047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19935664 12383915 CCBE1 collagen and calcium binding EGF domains 1 gene DOID:630 genetic disease ISO RGD:1349047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:19935664|PMID:21778431|PMID:25741868|PMID:26686525|PMID:28492532|PMID:28985353|PMID:31453292 12383915 CCBE1 collagen and calcium binding EGF domains 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1349047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12383915 CCBE1 collagen and calcium binding EGF domains 1 gene DOID:9001487 Facies ISO RGD:1349047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19935664 12383915 CCBE1 collagen and calcium binding EGF domains 1 gene DOID:9003821 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 ISO RGD:1349047 D RGD:7240710 20190320 OMIM 12383915 CCBE1 collagen and calcium binding EGF domains 1 gene DOID:9003821 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 ISO RGD:1349047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 PMID:16199547|PMID:17576681|PMID:19911200|PMID:19935664|PMID:21778431|PMID:22239599|PMID:23653581|PMID:24033266|PMID:24167460|PMID:25741868|PMID:26686525|PMID:27323140|PMID:28073151|PMID:28492532|PMID:28985353|PMID:31453292|PMID:32472549|PMID:32629717|PMID:9536098 12383915 CCBE1 collagen and calcium binding EGF domains 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1349047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19911200 12383928 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:0050855 renal fibrosis ISO RGD:1354467 D RGD:9068941 20200609 RGD PMID:22260463|REF_RGD_ID:7243130 12383928 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1354467 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12383928 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:1059 intellectual disability ISO RGD:1354467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12383928 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:10591 pre-eclampsia ISO RGD:1354467 D RGD:9068941 20200609 RGD mRNA:increased expression:placenta, decidua PMID:23155181|REF_RGD_ID:7243127 12383928 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:10591 pre-eclampsia ISO RGD:620007 D RGD:9068941 20200609 RGD PMID:23155181|REF_RGD_ID:7243127 12383928 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:1073 renal hypertension ISO RGD:1354467 D RGD:9068941 20200609 RGD PMID:20495177|REF_RGD_ID:7243143 12383928 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:1073 renal hypertension ISO RGD:620007 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:10779386|REF_RGD_ID:1625381 12383928 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:10763 hypertension ISO RGD:1354467 D RGD:9068941 20200609 RGD PMID:20501636|REF_RGD_ID:7243136 12383928 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:10763 hypertension susceptibility ISO RGD:1354467 D RGD:9068941 20200609 RGD DNA:SNP PMID:17286575|REF_RGD_ID:1625379 12383928 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:10952 nephritis ISO RGD:620007 D RGD:9068941 20200609 RGD PMID:25840911|REF_RGD_ID:12904676 12383928 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1354467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 12383928 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:5199 ureteral obstruction ISO RGD:620007 D RGD:9068941 20200609 RGD PMID:25840911|REF_RGD_ID:12904676 12383928 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1354467 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:17126841|REF_RGD_ID:1625380 12383928 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:630 genetic disease ISO RGD:1354467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12383928 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:6432 pulmonary hypertension ISO RGD:1354467 D RGD:9068941 20200609 RGD PMID:20118222|REF_RGD_ID:7243137 12383928 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:874 bacterial pneumonia ISO RGD:620007 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:14766666|REF_RGD_ID:1625385 12383928 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:9000528 Coronary Disease resistance ISO RGD:1354467 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-50G>T (human) PMID:17429317|REF_RGD_ID:1625377 12383928 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1354467 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:21742052|REF_RGD_ID:7243153 12383928 CYP2J2 cytochrome P450 family 2 subfamily J member 2 gene DOID:9004484 Sepsis ISO RGD:620007 D RGD:9068941 20200609 RGD PMID:15190971|REF_RGD_ID:1625384 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0050214 Lambert-Eaton myasthenic syndrome ISO RGD:10265 D RGD:9068941 20220825 MouseDO 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0050704 childhood electroclinical syndrome ISO RGD:10265 D RGD:9068941 20220825 MouseDO 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0050753 cerebellar ataxia ISO RGD:735950 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:10371528|PMID:15173248|PMID:19486177|PMID:25735478|PMID:25741868|PMID:26467025|PMID:27066515|PMID:27250579|PMID:27400454|PMID:28252636|PMID:28492532|PMID:31440721|PMID:31719132|PMID:35401678 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0050835 generalized dystonia ISO RGD:10265 D RGD:9068941 20220825 MouseDO 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0050858 Marshall-Smith syndrome ISO RGD:735950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome PMID:20673863|PMID:23495138|PMID:25118028|PMID:25736188|PMID:26927468|PMID:27688808|PMID:28492532|PMID:29184170 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0050952 spastic ataxia ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:26467025 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0050956 spinocerebellar ataxia type 6 ISO RGD:735950 D RGD:7240710 20180130 OMIM 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0050956 spinocerebellar ataxia type 6 ISO RGD:735950 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 6 PMID:10371528|PMID:10408534|PMID:10734061|PMID:10987655|PMID:11176968|PMID:11439943|PMID:11742003|PMID:12056940|PMID:12707077|PMID:14718690|PMID:15173248|PMID:15240985|PMID:15452324|PMID:15985579|PMID:16306128|PMID:16325861|PMID:16787562|PMID:17142831|PMID:18056581|PMID:18354422|PMID:18434528|PMID:18437043|PMID:18597946|PMID:19344873|PMID:19486177|PMID:19624685|PMID:19811514|PMID:20097664|PMID:20301562|PMID:20301674|PMID:20837964|PMID:21183743|PMID:22249839|PMID:22527033|PMID:23407676|PMID:23831250|PMID:24486772|PMID:24498617|PMID:25326635|PMID:25481746|PMID:25596066|PMID:25735478|PMID:25741868|PMID:25758715|PMID:25969684|PMID:26467025|PMID:26814174|PMID:26912519|PMID:27066515|PMID:27250579|PMID:27400454|PMID:27959697|PMID:28007337|PMID:28252636|PMID:28444220|PMID:28492532|PMID:28742085|PMID:28900389|PMID:28978442|PMID:29053796|PMID:29056246|PMID:29062094|PMID:29100083|PMID:29165669|PMID:29444203|PMID:29482223|PMID:29997391|PMID:30011838|PMID:30063100|PMID:30142438|PMID:30283815|PMID:31115040|PMID:31139143|PMID:31468518|PMID:31487502|PMID:31719132|PMID:32170034|PMID:33425808|PMID:33737904|PMID:34102571|PMID:35401678|PMID:9345107 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0050990 episodic ataxia type 2 ISO RGD:735950 D RGD:7240710 20180130 OMIM 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0050990 episodic ataxia type 2 ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia, paroxysmal, Acetazolamide-responsive | ClinVar Annotator: match by term: Episodic ataxia type 2 | ClinVar Annotator: match by term: Episodic ataxia with nystagmus | ClinVar Annotator: match by term: Episodic ataxia, type 2, and epilepsy PMID:10024348|PMID:10371528|PMID:10408532|PMID:10408533|PMID:10408534|PMID:10699052|PMID:10734061|PMID:10987655|PMID:11176968|PMID:11179022|PMID:11370629|PMID:11409427|PMID:11439943|PMID:11564488|PMID:11723274|PMID:11742003|PMID:11809294|PMID:11814735|PMID:11854167|PMID:11971066|PMID:12056940|PMID:12235360|PMID:12420090|PMID:12707077|PMID:12756131|PMID:14530926|PMID:14718690|PMID:15003170|PMID:15173248|PMID:15240985|PMID:15452324|PMID:15483044|PMID:15622542|PMID:15795222|PMID:15985579|PMID:16043807|PMID:16199547|PMID:16325861|PMID:16602100|PMID:16787562|PMID:16866717|PMID:17119788|PMID:17142831|PMID:17292920|PMID:17495624|PMID:17576681|PMID:17588611|PMID:18056581|PMID:18313928|PMID:18354422|PMID:18434528|PMID:1849839|PMID:18513263|PMID:18541804|PMID:18606230|PMID:18644040|PMID:18940563|PMID:19232643|PMID:19344873|PMID:19484318|PMID:19486177|PMID:19520699|PMID:19586927|PMID:19624685|PMID:19633872|PMID:19811514|PMID:19864665|PMID:20080591|PMID:20097664|PMID:20129625|PMID:20156848|PMID:20301562|PMID:20301674|PMID:20396531|PMID:20663518|PMID:20682717|PMID:20837964|PMID:21183743|PMID:21431381|PMID:21454563|PMID:21703448|PMID:21734179|PMID:21927611|PMID:22000314|PMID:22190617|PMID:22249839|PMID:22527033|PMID:22784462|PMID:22942164|PMID:22969264|PMID:23038654|PMID:23071170|PMID:23103419|PMID:23183922|PMID:23344743|PMID:23397224|PMID:23407676|PMID:23831250|PMID:23869231|PMID:23934111|PMID:24033266|PMID:24091540|PMID:24108129|PMID:24270521|PMID:24420976|PMID:24486772|PMID:24498617|PMID:24658662|PMID:24664531|PMID:24996492|PMID:25266619|PMID:25274239|PMID:25274781|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25481746|PMID:25596066|PMID:25640679|PMID:25735478|PMID:25741868|PMID:25758715|PMID:25819952|PMID:25851414|PMID:25969684|PMID:26423924|PMID:26467025|PMID:26633542|PMID:26716990|PMID:26795593|PMID:26814174|PMID:26912519|PMID:27066515|PMID:27165006|PMID:27250579|PMID:27290639|PMID:27400454|PMID:27476654|PMID:27667184|PMID:27871455|PMID:27959697|PMID:28007337|PMID:28166811|PMID:28169007|PMID:28431595|PMID:28444220|PMID:28455667|PMID:28492532|PMID:28540055|PMID:28566750|PMID:28742085|PMID:28900389|PMID:28978442|PMID:29056246|PMID:29100083|PMID:29165669|PMID:29186148|PMID:29343472|PMID:29389947|PMID:29444203|PMID:29482223|PMID:29908077|PMID:29915382|PMID:29924869|PMID:29997391|PMID:30011838|PMID:30063100|PMID:30142438|PMID:30167989|PMID:30185235|PMID:30283815|PMID:30692599|PMID:30891074|PMID:31015257|PMID:31139143|PMID:31288946|PMID:31468518|PMID:31487502|PMID:31618753|PMID:31719132|PMID:32238909|PMID:32581362|PMID:33349592|PMID:8734765|PMID:8898206|PMID:9005860|PMID:9329229|PMID:9345107|PMID:9488686|PMID:9536098|PMID:9600739|PMID:97053792|PMID:9915947 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0050990 episodic ataxia type 2 ISO RGD:735950 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia, paroxysmal, Acetazolamide-responsive | ClinVar Annotator: match by term: Episodic ataxia type 2 | ClinVar Annotator: match by term: Episodic ataxia, type 2, and epilepsy PMID:10024348|PMID:10371528|PMID:10408532|PMID:10408533|PMID:10408534|PMID:10699052|PMID:10734061|PMID:10987655|PMID:11176968|PMID:11179022|PMID:11370629|PMID:11409427|PMID:11439943|PMID:11564488|PMID:11723274|PMID:11742003|PMID:11809294|PMID:11814735|PMID:11854167|PMID:11971066|PMID:12056940|PMID:12235360|PMID:12420090|PMID:12707077|PMID:12756131|PMID:14530926|PMID:14592859|PMID:14694040|PMID:14718690|PMID:15003170|PMID:15173248|PMID:15240985|PMID:15452324|PMID:15483044|PMID:15622542|PMID:15743764|PMID:15795222|PMID:15985579|PMID:16043807|PMID:16186543|PMID:16199547|PMID:16306128|PMID:16325861|PMID:16508934|PMID:16583725|PMID:16602100|PMID:16787562|PMID:16866717|PMID:17119788|PMID:17142831|PMID:17292920|PMID:17495624|PMID:17576681|PMID:17588611|PMID:18056581|PMID:18313928|PMID:18354422|PMID:18434528|PMID:18437043|PMID:1849839|PMID:18513263|PMID:18541804|PMID:18581134|PMID:18597946|PMID:18606230|PMID:18644040|PMID:18940563|PMID:19232643|PMID:19242091|PMID:19344873|PMID:19484318|PMID:19486177|PMID:19520699|PMID:19586927|PMID:19624685|PMID:19633872|PMID:19811514|PMID:19864665|PMID:20080591|PMID:20097664|PMID:20129625|PMID:20156848|PMID:20301562|PMID:20301674|PMID:20396531|PMID:20663518|PMID:20682717|PMID:20837964|PMID:21183743|PMID:21431381|PMID:21703448|PMID:21734179|PMID:21927611|PMID:22000314|PMID:22190617|PMID:22249839|PMID:22527033|PMID:22784462|PMID:22942164|PMID:22969264|PMID:23038654|PMID:23071170|PMID:23103419|PMID:23183922|PMID:23344743|PMID:23397224|PMID:23407676|PMID:23831250|PMID:23869231|PMID:23934111|PMID:24033266|PMID:24046065|PMID:24091540|PMID:24108129|PMID:24270521|PMID:24420976|PMID:24445160|PMID:24486772|PMID:24498617|PMID:24658662|PMID:24664531|PMID:24996492|PMID:25266619|PMID:25274239|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25481746|PMID:25525159|PMID:25596066|PMID:25640679|PMID:25716839|PMID:25735478|PMID:25741868|PMID:25758715|PMID:25784583|PMID:25819952|PMID:25851414|PMID:25969684|PMID:26423924|PMID:26467025|PMID:26633542|PMID:26716990|PMID:26795593|PMID:26814174|PMID:26912519|PMID:27066515|PMID:27165006|PMID:27250579|PMID:27290639|PMID:27400454|PMID:27476654|PMID:27667184|PMID:27871455|PMID:27959697|PMID:27965395|PMID:28007337|PMID:28169007|PMID:28252636|PMID:28431595|PMID:28444220|PMID:28455667|PMID:28492532|PMID:28566750|PMID:28742085|PMID:28900389|PMID:28927557|PMID:28978442|PMID:29056246|PMID:29062094|PMID:29100083|PMID:29165669|PMID:29184170|PMID:29186148|PMID:29276004|PMID:29343472|PMID:29389947|PMID:29444203|PMID:29482223|PMID:29883219|PMID:29908077|PMID:29915382|PMID:29924869|PMID:29997391|PMID:30011838|PMID:30063100|PMID:30142438|PMID:30167989|PMID:30185235|PMID:30283815|PMID:30301590|PMID:30692599|PMID:30891074|PMID:31015257|PMID:31115040|PMID:31139143|PMID:31164858|PMID:31288946|PMID:31440721|PMID:31468518|PMID:31487502|PMID:31618753|PMID:31719132|PMID:31810576|PMID:31915071|PMID:32116539|PMID:32170034|PMID:32238909|PMID:32581362|PMID:32910250|PMID:33121221|PMID:33233562|PMID:33278787|PMID:33349592|PMID:33425808|PMID:34085110|PMID:34102571|PMID:34320921|PMID:34436362|PMID:34631621|PMID:35401678|PMID:35600082|PMID:35837781|PMID:8734765|PMID:8898206|PMID:9005860|PMID:9329229|PMID:9345107|PMID:9488686|PMID:9536098|PMID:9600739|PMID:97053792|PMID:9915947 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0060041 autism spectrum disorder ISO RGD:735950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0060178 familial hemiplegic migraine ISO RGD:735950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:10024348|PMID:10408532|PMID:10408534|PMID:10734061|PMID:10987655|PMID:11176968|PMID:11409427|PMID:11439943|PMID:11814735|PMID:11971066|PMID:12056940|PMID:12235360|PMID:12707077|PMID:12756131|PMID:14718690|PMID:15743764|PMID:15795222|PMID:16508934|PMID:17142831|PMID:18056581|PMID:18313928|PMID:18581134|PMID:19242091|PMID:19520699|PMID:19624685|PMID:20301562|PMID:20837964|PMID:22000314|PMID:22190617|PMID:22527033|PMID:22969264|PMID:23407676|PMID:23934111|PMID:24270521|PMID:24486772|PMID:24498617|PMID:25266619|PMID:25274239|PMID:25716839|PMID:25741868|PMID:25969684|PMID:26467025|PMID:26814174|PMID:27066515|PMID:27290639|PMID:28169007|PMID:28492532|PMID:28900389|PMID:29444203|PMID:8734765|PMID:8898206|PMID:9488686|PMID:9566402|PMID:97053792|PMID:9915947 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0080454 developmental and epileptic encephalopathy 42 ISO RGD:735950 D RGD:7240710 20190315 OMIM 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0080454 developmental and epileptic encephalopathy 42 ISO RGD:735950 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42 PMID:10024348|PMID:10371528|PMID:10408533|PMID:10455105|PMID:10987655|PMID:11409427|PMID:11439943|PMID:11814735|PMID:11971066|PMID:12056940|PMID:12420090|PMID:12756131|PMID:14718690|PMID:15136697|PMID:15240985|PMID:15452324|PMID:15743764|PMID:15795222|PMID:16043807|PMID:16199547|PMID:16325861|PMID:16508934|PMID:16787562|PMID:17576681|PMID:18313928|PMID:18354422|PMID:18437043|PMID:18581134|PMID:18597946|PMID:18606230|PMID:19486177|PMID:19520699|PMID:19811514|PMID:20097664|PMID:20129625|PMID:20156848|PMID:20301562|PMID:20301674|PMID:20396531|PMID:20682717|PMID:20837964|PMID:21183743|PMID:22000314|PMID:22190617|PMID:22249839|PMID:22969264|PMID:23831250|PMID:23934111|PMID:24091540|PMID:24108129|PMID:24270521|PMID:24486772|PMID:25266619|PMID:25274239|PMID:25326635|PMID:25356970|PMID:25481746|PMID:25596066|PMID:25735478|PMID:25741868|PMID:25758715|PMID:26467025|PMID:26814174|PMID:27066515|PMID:27250579|PMID:27290639|PMID:27476654|PMID:27959697|PMID:28007337|PMID:28169007|PMID:28455667|PMID:28492532|PMID:28566750|PMID:28742085|PMID:29056246|PMID:29100083|PMID:29186148|PMID:29486580|PMID:29915382|PMID:29997391|PMID:30011838|PMID:30063100|PMID:30142438|PMID:30167989|PMID:30283815|PMID:31015257|PMID:31115040|PMID:31139143|PMID:31440721|PMID:31468518|PMID:31487502|PMID:31618753|PMID:32116539|PMID:32170034|PMID:32238909|PMID:32581362|PMID:32860008|PMID:32901917|PMID:32910250|PMID:33278787|PMID:33349592|PMID:33425808|PMID:34102571|PMID:34531397|PMID:35600082|PMID:35837781|PMID:8898206|PMID:9488686|PMID:9536098|PMID:97053792|PMID:9915947 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0080455 developmental and epileptic encephalopathy 52 ISO RGD:735950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 52 PMID:11439943|PMID:18437043|PMID:19344873|PMID:25741868|PMID:28492532|PMID:29165669|PMID:30063100|PMID:32170034 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:735950 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868|PMID:28492532 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:735950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0111181 familial hemiplegic migraine 1 ISO RGD:735950 D RGD:7240710 20180130 OMIM 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0111181 familial hemiplegic migraine 1 ISO RGD:735950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Migraine, familial hemiplegic 1, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Migraine, familial hemiplegic, 1 | ClinVar Annotator: match by term: Migraine, sporadic hemiplegic, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Sporadic hemiplegic migraine PMID:10024348|PMID:10408532|PMID:10408534|PMID:10734061|PMID:10987655|PMID:11061267|PMID:11176968|PMID:11409427|PMID:11439943|PMID:11814735|PMID:11960817|PMID:11971066|PMID:12056940|PMID:12111613|PMID:12235360|PMID:12707077|PMID:12756131|PMID:14718690|PMID:15032980|PMID:15240985|PMID:15452324|PMID:15743764|PMID:15795222|PMID:16043807|PMID:16508934|PMID:17142831|PMID:18056581|PMID:18313928|PMID:18400034|PMID:18437043|PMID:18581134|PMID:19242091|PMID:19344873|PMID:19520699|PMID:19586927|PMID:19624685|PMID:20129625|PMID:20301562|PMID:20837964|PMID:22000314|PMID:22190617|PMID:22249839|PMID:22527033|PMID:22969264|PMID:23407676|PMID:23934111|PMID:23961289|PMID:24270521|PMID:24486772|PMID:24498617|PMID:25266619|PMID:25274239|PMID:25326635|PMID:25716839|PMID:25741868|PMID:25969684|PMID:26467025|PMID:26814174|PMID:27066515|PMID:27290639|PMID:27959697|PMID:28007337|PMID:28169007|PMID:28492532|PMID:28566750|PMID:28900389|PMID:28978442|PMID:29056246|PMID:29100083|PMID:29165669|PMID:29444203|PMID:30063100|PMID:30283815|PMID:31468518|PMID:31487502|PMID:32170034|PMID:34436362|PMID:7537420|PMID:8734765|PMID:8898206|PMID:9488686|PMID:9566402|PMID:97053792|PMID:9915947 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:0111254 glutaric acidemia I ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:10024 migraine with aura ISO RGD:735950 D RGD:9068941 20200609 RGD DNA:mutation:cds:P.V1457L(human) PMID:10408532|REF_RGD_ID:10054422 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:10024 migraine with aura ISO RGD:735950 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:35115687 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:1059 intellectual disability ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20156848|PMID:24108129|PMID:25356970|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30167989 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:11832 visual epilepsy ISO RGD:10265 D RGD:9068941 20220728 RGD PMID:9060410|REF_RGD_ID:10054423 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:12849 autistic disorder ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:13641 exfoliation syndrome ISO RGD:735950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25706626 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:1825 childhood absence epilepsy ISO RGD:2244 D RGD:9068941 20200609 RGD DNA:mutation:cds:752T>A (p.M251K)(rat) PMID:17196942|REF_RGD_ID:1598976 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:1825 childhood absence epilepsy ISO RGD:735950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17196942 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:1826 epilepsy ISO RGD:735950 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:26467025|PMID:28492532 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:1923 disorder of sexual development ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:1969 cerebral palsy ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:332 amyotrophic lateral sclerosis ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:3328 temporal lobe epilepsy ISO RGD:2244 D RGD:9068941 20200609 RGD PMID:10448056|REF_RGD_ID:10054441 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:3413 alpha-mannosidosis ISO RGD:735950 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:5077 subependymal giant cell astrocytoma ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Subependymal giant-cell astrocytoma PMID:28492532 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:630 genetic disease ISO RGD:735950 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10024348|PMID:10371528|PMID:10408532|PMID:10408533|PMID:10734061|PMID:10987655|PMID:11439943|PMID:11564488|PMID:11723274|PMID:11814735|PMID:11971066|PMID:12056940|PMID:12707077|PMID:12756131|PMID:14592859|PMID:14694040|PMID:14718690|PMID:15003170|PMID:15173248|PMID:15240985|PMID:15452324|PMID:15483044|PMID:15710862|PMID:15795222|PMID:16043807|PMID:16199547|PMID:16306128|PMID:16325861|PMID:16508934|PMID:16787562|PMID:16866717|PMID:17292920|PMID:17495624|PMID:17576681|PMID:17588611|PMID:18354422|PMID:18437043|PMID:1849839|PMID:18513263|PMID:18644040|PMID:18940563|PMID:19344873|PMID:19484318|PMID:19486177|PMID:19811514|PMID:20080591|PMID:20097664|PMID:20129625|PMID:20156848|PMID:20301562|PMID:20301674|PMID:20837964|PMID:21183743|PMID:21703448|PMID:21734179|PMID:22000314|PMID:22190617|PMID:22249839|PMID:22784462|PMID:22969264|PMID:23103419|PMID:23183922|PMID:23397224|PMID:23831250|PMID:23869231|PMID:23934111|PMID:24033266|PMID:24046065|PMID:24108129|PMID:24270521|PMID:24486772|PMID:24996492|PMID:25266619|PMID:25274239|PMID:25326635|PMID:25356970|PMID:25481746|PMID:25525159|PMID:25596066|PMID:25735478|PMID:25741868|PMID:25758715|PMID:25819952|PMID:25851414|PMID:26467025|PMID:26716990|PMID:26795593|PMID:26814174|PMID:27066515|PMID:27250579|PMID:27290639|PMID:27400454|PMID:27476654|PMID:27580036|PMID:27959697|PMID:28007337|PMID:28169007|PMID:28252636|PMID:28455667|PMID:28492532|PMID:28566750|PMID:28742085|PMID:29056246|PMID:29062094|PMID:29100083|PMID:29165669|PMID:29186148|PMID:29276004|PMID:29883219|PMID:29908077|PMID:29924869|PMID:30011838|PMID:30063100|PMID:30142438|PMID:30167989|PMID:30283815|PMID:31139143|PMID:31468518|PMID:31487502|PMID:31618753|PMID:31719132|PMID:32170034|PMID:32910250|PMID:34102571|PMID:35401678|PMID:8898206|PMID:9329229|PMID:9488686|PMID:9536098|PMID:97053792|PMID:9915947 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:6364 migraine ISO RGD:735950 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Migraine PMID:22249839|PMID:25741868|PMID:27959697|PMID:28007337|PMID:28492532|PMID:29056246|PMID:29100083|PMID:30283815|PMID:31468518|PMID:31487502 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:681 progressive bulbar palsy ISO RGD:735950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bulbar palsy PMID:10371528|PMID:12420090|PMID:19486177|PMID:20129625|PMID:20396531|PMID:25735478|PMID:25741868|PMID:26467025|PMID:27250579|PMID:28492532|PMID:28566750|PMID:32581362|PMID:33425808|PMID:35837781 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:8725 vascular dementia ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:25741868|PMID:33268848 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:9001793 Generalized Epilepsy ISO RGD:735950 D RGD:9068941 20200609 RGD PMID:11342703|REF_RGD_ID:734669 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:735950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11985388|PMID:16899342 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:735950 D RGD:9068941 20200609 RGD DNA:repeats:cds: PMID:8988170|REF_RGD_ID:10054466 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:735950 D RGD:9068941 20200609 RGD protein:altered expression:Purkinje cell: PMID:10369863|REF_RGD_ID:10054421 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:9002121 Spinocerebellar Ataxias onset ISO RGD:735950 D RGD:9068941 20200609 RGD DNA:repeats:cds: PMID:10945665|REF_RGD_ID:1358570 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:9004866 Ataxia ISO RGD:10265 D RGD:9068941 20200609 RGD PMID:9060410|REF_RGD_ID:10054423 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:9004866 Ataxia ISO RGD:735950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17376154 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:9005532 Muscle Weakness ISO RGD:735950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868|PMID:26467025|PMID:28492532 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:9006534 Nervous System Malformations ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:23934111|PMID:25741868|PMID:27476654|PMID:28455667|PMID:28492532|PMID:29186148 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:9007 sudden infant death syndrome ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868|PMID:28492532 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:9007552 Sporadic Hemiplegic Migraine ISO RGD:735950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sporadic hemiplegic migraine PMID:10408534|PMID:10734061|PMID:11176968|PMID:11439943|PMID:12056940|PMID:12707077|PMID:17142831|PMID:18056581|PMID:19624685|PMID:20301562|PMID:20837964|PMID:22527033|PMID:23407676|PMID:24486772|PMID:24498617|PMID:25741868|PMID:25969684|PMID:26467025|PMID:26814174|PMID:27066515|PMID:28492532|PMID:28900389|PMID:29444203 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:9008086 Developmental Disabilities ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16325861|PMID:16787562|PMID:18354422|PMID:20301674|PMID:24486772|PMID:25326635|PMID:25481746|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28742085|PMID:30011838 12383950 CACNA1A calcium voltage-gated channel subunit alpha1 A gene DOID:963 episodic ataxia ISO RGD:735950 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Hereditary episodic ataxia PMID:28492532 12384011 C7H18orf32 chromosome 7 C18orf32 homolog gene DOID:1059 intellectual disability ISO RGD:1626573 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12384011 C7H18orf32 chromosome 7 C18orf32 homolog gene DOID:630 genetic disease ISO RGD:1626573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384011 C7H18orf32 chromosome 7 C18orf32 homolog gene DOID:9003554 Glycosylphosphatidylinositol Biosynthesis Defect 25 ISO RGD:1626573 D RGD:7240710 20220810 OMIM 12384024 LOC100688504 atherin gene DOID:630 genetic disease ISO RGD:16571318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384035 PRKG2 protein kinase cGMP-dependent 2 gene DOID:0081238 acromesomelic dysplasia-4 ISO RGD:733228 D RGD:7240710 20211201 OMIM 12384035 PRKG2 protein kinase cGMP-dependent 2 gene DOID:0081238 acromesomelic dysplasia-4 ISO RGD:733228 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 4 PMID:33106379|PMID:34782440 12384035 PRKG2 protein kinase cGMP-dependent 2 gene DOID:630 genetic disease ISO RGD:733228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384035 PRKG2 protein kinase cGMP-dependent 2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:733228 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12384035 PRKG2 protein kinase cGMP-dependent 2 gene DOID:9002830 Spondylometaphyseal Dysplasia Pagnamenta Type ISO RGD:733228 D RGD:7240710 20211201 OMIM 12384035 PRKG2 protein kinase cGMP-dependent 2 gene DOID:9002830 Spondylometaphyseal Dysplasia Pagnamenta Type ISO RGD:733228 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, pagnamenta type PMID:34782440 12384035 PRKG2 protein kinase cGMP-dependent 2 gene DOID:9007661 Dwarfism ISO RGD:3401 D RGD:9068941 20211001 RGD DNA:deletion:cds (rat) PMID:15466490|PMID:19149413|REF_RGD_ID:150429792|REF_RGD_ID:150429793 12384167 GYS2 glycogen synthase 2 gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:733991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532 12384167 GYS2 glycogen synthase 2 gene DOID:2747 glycogen storage disease ISO RGD:733991 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glycogen storage disease PMID:12072888|PMID:18341095|PMID:20051115|PMID:24033266|PMID:25070466|PMID:25741868|PMID:28245189|PMID:28492532|PMID:32395408|PMID:32779500|PMID:9691087 12384167 GYS2 glycogen synthase 2 gene DOID:5419 schizophrenia ISO RGD:733991 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12384167 GYS2 glycogen synthase 2 gene DOID:630 genetic disease ISO RGD:733991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12384167 GYS2 glycogen synthase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:733991 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12384167 GYS2 glycogen synthase 2 gene DOID:9006581 Glycogen Storage Disease 0, Liver ISO RGD:733991 D RGD:7240710 20180130 OMIM 12384167 GYS2 glycogen synthase 2 gene DOID:9006581 Glycogen Storage Disease 0, Liver ISO RGD:733991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypoglycemia with deficiency of glycogen synthetase in the liver | ClinVar Annotator: match by term: LIVER GLYCOGEN SYNTHASE DEFICIENCY PMID:106027|PMID:12072888|PMID:141912|PMID:16199547|PMID:16337419|PMID:17576681|PMID:18341095|PMID:20051115|PMID:24033266|PMID:25070466|PMID:25741868|PMID:28245189|PMID:28492532|PMID:29167993|PMID:32377253|PMID:32395408|PMID:32779500|PMID:8534634|PMID:9536098|PMID:9691087 12384187 GNAS GNAS complex locus gene DOID:0050581 brachydactyly ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12719376 12384187 GNAS GNAS complex locus gene DOID:0060001 withdrawal disorder ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12199159 12384187 GNAS GNAS complex locus gene DOID:0080053 Albright's hereditary osteodystrophy ISO RGD:736916 D RGD:7240710 20180130 OMIM 12384187 GNAS GNAS complex locus gene DOID:0080053 Albright's hereditary osteodystrophy ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Albright hereditary osteodystrophy with multiple hormone resistance | ClinVar Annotator: match by term: PHP IA | ClinVar Annotator: match by term: PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS | ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IA | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1A PMID:11093740|PMID:11412411|PMID:11450852|PMID:11600516|PMID:11784876|PMID:12024004|PMID:12621129|PMID:12727968|PMID:12970318|PMID:1505964|PMID:15126527|PMID:1517386|PMID:15711092|PMID:1594625|PMID:15952988|PMID:16507630|PMID:18553568|PMID:18796523|PMID:1944469|PMID:20427508|PMID:2109828|PMID:21525160|PMID:21835143|PMID:23281139|PMID:23403822|PMID:23536913|PMID:23796510|PMID:23843956|PMID:23884777|PMID:24033266|PMID:24481334|PMID:24626099|PMID:24855271|PMID:24914079|PMID:24982418|PMID:25044890|PMID:25157968|PMID:25219572|PMID:2549426|PMID:25719192|PMID:25741868|PMID:25802881|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:28708303|PMID:29059381|PMID:29072892|PMID:29379892|PMID:29628140|PMID:29970488|PMID:30349702|PMID:30674755|PMID:30702195|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34008892|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:3720010|PMID:8072545|PMID:8388883|PMID:8702665|PMID:9159128|PMID:9727013|PMID:9876352 12384187 GNAS GNAS complex locus gene DOID:0080222 pseudohypoparathyroidism type IB ISO RGD:736916 D RGD:7240710 20180130 OMIM 12384187 GNAS GNAS complex locus gene DOID:0080222 pseudohypoparathyroidism type IB ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IB | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B PMID:11600516|PMID:11784876|PMID:12024004|PMID:12621129|PMID:12970262|PMID:1505964|PMID:15711092|PMID:16199547|PMID:18553568|PMID:18796523|PMID:20015054|PMID:20427508|PMID:21525160|PMID:23281139|PMID:23796510|PMID:23884777|PMID:24033266|PMID:24481334|PMID:24626099|PMID:24728327|PMID:25044890|PMID:25219572|PMID:25741868|PMID:25802881|PMID:28492532|PMID:29059381|PMID:29072892|PMID:30349702|PMID:30674755|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:8702665|PMID:9876352 12384187 GNAS GNAS complex locus gene DOID:0080322 polycystic kidney disease ISO RGD:2716 D RGD:9068941 20200609 RGD protein:increased expression:cholangiocyte PMID:28543567|REF_RGD_ID:14700993 12384187 GNAS GNAS complex locus gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant PMID:23281139|PMID:25741868|PMID:25802881|PMID:28492532|PMID:29072892|PMID:34008892|PMID:8388883 12384187 GNAS GNAS complex locus gene DOID:0111535 progressive osseous heteroplasia ISO RGD:736916 D RGD:7240710 20180130 OMIM 12384187 GNAS GNAS complex locus gene DOID:0111535 progressive osseous heteroplasia ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ECTOPIC OSSIFICATION, FAMILIAL | ClinVar Annotator: match by term: Progressive osseous heteroplasia PMID:11600516|PMID:11784876|PMID:12024004|PMID:12621129|PMID:1505964|PMID:15711092|PMID:18553568|PMID:18796523|PMID:20427508|PMID:2122458|PMID:23281139|PMID:23796510|PMID:24033266|PMID:24481334|PMID:24626099|PMID:25044890|PMID:25219572|PMID:25741868|PMID:25802881|PMID:28492532|PMID:29059381|PMID:29072892|PMID:30349702|PMID:30674755|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:8557265|PMID:8702665|PMID:9876352 12384187 GNAS GNAS complex locus gene DOID:0111622 ACTH-independent macronodular adrenal hyperplasia ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA PMID:11600516|PMID:11784876|PMID:12024004|PMID:12621129|PMID:1505964|PMID:15711092|PMID:18553568|PMID:18796523|PMID:20427508|PMID:23281139|PMID:23796510|PMID:24481334|PMID:24626099|PMID:25044890|PMID:25219572|PMID:25741868|PMID:25802881|PMID:28492532|PMID:29059381|PMID:29072892|PMID:30349702|PMID:30674755|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:8702665|PMID:9876352 12384187 GNAS GNAS complex locus gene DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 IAGP D RGD:12801476 20210603 OMIA ACTH-independent adrenal Cushing syndrome, somatic PMID:24112376 12384187 GNAS GNAS complex locus gene DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 ISO RGD:736916 D RGD:7240710 20180130 OMIM 12384187 GNAS GNAS complex locus gene DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENOCORTICAL HYPERPLASIA PMID:11600516|PMID:11784876|PMID:12024004|PMID:12621129|PMID:1505964|PMID:15711092|PMID:18553568|PMID:18796523|PMID:20427508|PMID:23281139|PMID:23796510|PMID:24481334|PMID:24626099|PMID:25044890|PMID:25219572|PMID:25741868|PMID:25802881|PMID:28492532|PMID:29059381|PMID:29072892|PMID:30349702|PMID:30674755|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:8702665|PMID:9876352 12384187 GNAS GNAS complex locus gene DOID:0112010 pituitary adenoma 3 ISO RGD:736916 D RGD:7240710 20190315 OMIM 12384187 GNAS GNAS complex locus gene DOID:0112010 pituitary adenoma 3 ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pituitary adenoma 3, multiple types PMID:11093740|PMID:11600516|PMID:11784876|PMID:12024004|PMID:12621129|PMID:12727968|PMID:12970318|PMID:1505964|PMID:15126527|PMID:1517386|PMID:15711092|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17493233|PMID:17873334|PMID:18553568|PMID:18796523|PMID:1944469|PMID:20197676|PMID:20427508|PMID:21835143|PMID:23281139|PMID:23403822|PMID:23536913|PMID:23796510|PMID:23843956|PMID:24481334|PMID:24626099|PMID:24855271|PMID:25044890|PMID:25157968|PMID:25219572|PMID:2549426|PMID:25719192|PMID:25741868|PMID:25802881|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:29059381|PMID:29072892|PMID:30349702|PMID:30674755|PMID:30702195|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:3720010|PMID:7737262|PMID:7739708|PMID:8702665|PMID:8766942|PMID:9626141|PMID:9876352 12384187 GNAS GNAS complex locus gene DOID:1059 intellectual disability ISO RGD:736916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12384187 GNAS GNAS complex locus gene DOID:10652 Alzheimer's disease ISO RGD:736916 D RGD:9068941 20200609 RGD PMID:8012802|REF_RGD_ID:10401266 12384187 GNAS GNAS complex locus gene DOID:10763 hypertension ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9506701 12384187 GNAS GNAS complex locus gene DOID:10763 hypertension ISO RGD:736916 D RGD:9068941 20200609 RGD PMID:12215464|REF_RGD_ID:1580404 12384187 GNAS GNAS complex locus gene DOID:11612 polycystic ovary syndrome ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12384187 GNAS GNAS complex locus gene DOID:14566 disease of cellular proliferation ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 12384187 GNAS GNAS complex locus gene DOID:1793 pancreatic cancer ISO RGD:736916 D RGD:9068941 20200609 RGD PMID:12771991|REF_RGD_ID:2317256 12384187 GNAS GNAS complex locus gene DOID:1858 McCune Albright syndrome ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Albright's disease | ClinVar Annotator: match by term: McCune-Albright syndrome PMID:10571700|PMID:11092390|PMID:11093740|PMID:11600516|PMID:11784876|PMID:12024004|PMID:12621129|PMID:12727968|PMID:12970318|PMID:1505964|PMID:15126527|PMID:1517386|PMID:15711092|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17493233|PMID:17873334|PMID:18553568|PMID:18796523|PMID:1944469|PMID:20197676|PMID:20427508|PMID:21525160|PMID:21835143|PMID:23281139|PMID:23403822|PMID:23533243|PMID:23536913|PMID:23796510|PMID:23843956|PMID:24088041|PMID:24481334|PMID:24626099|PMID:24728327|PMID:24855271|PMID:25044890|PMID:25157968|PMID:25219572|PMID:2549426|PMID:25719192|PMID:25741868|PMID:25802881|PMID:26619011|PMID:26633545|PMID:27398169|PMID:27506760|PMID:27703483|PMID:28492532|PMID:29059381|PMID:29072892|PMID:30349702|PMID:30674755|PMID:30702195|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:3720010|PMID:7737262|PMID:7739708|PMID:7751320|PMID:8702665|PMID:8766942|PMID:9267696|PMID:9626141|PMID:9876352 12384187 GNAS GNAS complex locus gene DOID:1909 melanoma ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 12384187 GNAS GNAS complex locus gene DOID:192 sex cord-gonadal stromal tumor ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sex cord-stromal tumor PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 12384187 GNAS GNAS complex locus gene DOID:2213 hemorrhagic disease ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11583302 12384187 GNAS GNAS complex locus gene DOID:2449 acromegaly ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11254676 12384187 GNAS GNAS complex locus gene DOID:28 endocrine system disease ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1594625|PMID:1944469 12384187 GNAS GNAS complex locus gene DOID:3717 gastric adenocarcinoma ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 12384187 GNAS GNAS complex locus gene DOID:3910 lung adenocarcinoma ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 12384187 GNAS GNAS complex locus gene DOID:3947 adrenal gland hyperfunction ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperadrenocorticism PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9267696|PMID:9626141 12384187 GNAS GNAS complex locus gene DOID:3948 adrenocortical carcinoma ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 12384187 GNAS GNAS complex locus gene DOID:4074 pancreatic adenocarcinoma ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 12384187 GNAS GNAS complex locus gene DOID:4183 pseudopseudohypoparathyroidism ISO RGD:736916 D RGD:7240710 20180130 OMIM 12384187 GNAS GNAS complex locus gene DOID:4183 pseudopseudohypoparathyroidism ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Albright hereditary osteodystrophy without multiple hormone resistance | ClinVar Annotator: match by term: Pseudopseudohypoparathyroidism PMID:10487696|PMID:11092390|PMID:11095461|PMID:11600516|PMID:11784876|PMID:12024004|PMID:12621129|PMID:12624854|PMID:1505964|PMID:15711092|PMID:16199547|PMID:18553568|PMID:18796523|PMID:20427508|PMID:2122458|PMID:21525160|PMID:219790|PMID:23281139|PMID:23533243|PMID:23796510|PMID:24033266|PMID:24088041|PMID:24481334|PMID:24626099|PMID:25044890|PMID:25219572|PMID:25594858|PMID:25741868|PMID:25802881|PMID:26633545|PMID:27703483|PMID:28492532|PMID:28708303|PMID:29059381|PMID:29072892|PMID:30349702|PMID:30674755|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34008892|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:7853365|PMID:8702665|PMID:9506752|PMID:9727013|PMID:9876352 12384187 GNAS GNAS complex locus gene DOID:4184 pseudohypoparathyroidism ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pseudohypoparathyroidism PMID:10487696|PMID:11073544|PMID:11092390|PMID:11095461|PMID:11450852|PMID:11600516|PMID:11784876|PMID:12024004|PMID:12621129|PMID:12970262|PMID:1505964|PMID:15711092|PMID:17164301|PMID:17299070|PMID:17962410|PMID:18553568|PMID:18796523|PMID:20427508|PMID:2109828|PMID:2122458|PMID:21488135|PMID:21525160|PMID:21713996|PMID:21747923|PMID:219790|PMID:23281139|PMID:23533243|PMID:23796510|PMID:24088041|PMID:24481334|PMID:24626099|PMID:24651309|PMID:25044890|PMID:25219572|PMID:25326637|PMID:25741868|PMID:25802881|PMID:26633545|PMID:27703483|PMID:28492532|PMID:29059381|PMID:29072892|PMID:29193623|PMID:30349702|PMID:30674755|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34008892|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:8388883|PMID:8557265|PMID:8702665|PMID:9159128|PMID:9328353|PMID:9506752|PMID:9876352 12384187 GNAS GNAS complex locus gene DOID:446 primary hyperaldosteronism ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cushing syndrome | ClinVar Annotator: match by term: Cushing's syndrome PMID:11093740|PMID:11784876|PMID:12727968|PMID:12970262|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:2109828|PMID:21525160|PMID:21713996|PMID:21835143|PMID:23281139|PMID:23403822|PMID:23536913|PMID:23796510|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:25802881|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:29059381|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9267696|PMID:9626141 12384187 GNAS GNAS complex locus gene DOID:4479 pseudohypoaldosteronism ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12384187 GNAS GNAS complex locus gene DOID:4947 cholangiocarcinoma ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 12384187 GNAS GNAS complex locus gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:736916 D RGD:9068941 20200609 RGD DNA:polymorphism:393T>C (human) PMID:17356712|REF_RGD_ID:1601377 12384187 GNAS GNAS complex locus gene DOID:5419 schizophrenia ISO RGD:10669 D RGD:9068941 20220825 MouseDO OMIM:181500 12384187 GNAS GNAS complex locus gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 12384187 GNAS GNAS complex locus gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11254676 12384187 GNAS GNAS complex locus gene DOID:630 genetic disease ISO RGD:736916 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11092390|PMID:11600516|PMID:11784876|PMID:12024004|PMID:12624854|PMID:12970262|PMID:1505964|PMID:15711092|PMID:16199547|PMID:18553568|PMID:18796523|PMID:20427508|PMID:21525160|PMID:23281139|PMID:23533243|PMID:23796510|PMID:24088041|PMID:24481334|PMID:24626099|PMID:24651309|PMID:24982418|PMID:25044890|PMID:25219572|PMID:25741868|PMID:25802881|PMID:26633545|PMID:27703483|PMID:27871293|PMID:28492532|PMID:28708303|PMID:29059381|PMID:29072892|PMID:29628140|PMID:30349702|PMID:30674755|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:7853365|PMID:8702665|PMID:9727013|PMID:9876352 12384187 GNAS GNAS complex locus gene DOID:684 hepatocellular carcinoma ISO RGD:736916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:1944469|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 12384187 GNAS GNAS complex locus gene DOID:684 hepatocellular carcinoma ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 12384187 GNAS GNAS complex locus gene DOID:769 neuroblastoma ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20862257 12384187 GNAS GNAS complex locus gene DOID:8923 skin melanoma ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 12384187 GNAS GNAS complex locus gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747643 12384187 GNAS GNAS complex locus gene DOID:9000882 Pseudohypoparathyroidism Type IC ISO RGD:736916 D RGD:7240710 20180130 OMIM 12384187 GNAS GNAS complex locus gene DOID:9000882 Pseudohypoparathyroidism Type IC ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: PHP IC | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1C PMID:11600516|PMID:11784876|PMID:11788646|PMID:12024004|PMID:12621129|PMID:12970262|PMID:1505964|PMID:15711092|PMID:18553568|PMID:18796523|PMID:20427508|PMID:21488135|PMID:21525160|PMID:23281139|PMID:23796510|PMID:24033266|PMID:24481334|PMID:24626099|PMID:24651309|PMID:25044890|PMID:25219572|PMID:25741868|PMID:25802881|PMID:28492532|PMID:29059381|PMID:29072892|PMID:30349702|PMID:30674755|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:8702665|PMID:9876352 12384187 GNAS GNAS complex locus gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:736916 D RGD:9068941 20200609 RGD DNA:polymorphism:393T>C (human) PMID:17020971|REF_RGD_ID:1601379 12384187 GNAS GNAS complex locus gene DOID:9002234 Pituitary Neoplasms ISO RGD:736916 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.201R>C, p.201R>H, p.227Q>R (human) PMID:2549426|REF_RGD_ID:1601376 12384187 GNAS GNAS complex locus gene DOID:9002278 Metabolic Bone Diseases ISO RGD:736916 D RGD:9068941 20200609 RGD Albright hereditary osteodystrophy,OMIM:103580;DNA:deletion PMID:2122458|REF_RGD_ID:1601375 12384187 GNAS GNAS complex locus gene DOID:9002453 Cafe-au-Lait Spots ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1594625|PMID:1944469 12384187 GNAS GNAS complex locus gene DOID:9002554 Tachycardia ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9506701 12384187 GNAS GNAS complex locus gene DOID:9002669 Hypoxia ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20862257 12384187 GNAS GNAS complex locus gene DOID:9003155 Parasitic Liver Diseases ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 12384187 GNAS GNAS complex locus gene DOID:9003295 Heterotopic Ossification ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18553568 12384187 GNAS GNAS complex locus gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 12384187 GNAS GNAS complex locus gene DOID:9004659 Respiration Disorders ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9506701 12384187 GNAS GNAS complex locus gene DOID:9005158 Cushing Syndrome ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cushing syndrome | ClinVar Annotator: match by term: Cushing's syndrome PMID:11093740|PMID:11784876|PMID:12727968|PMID:12970262|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:2109828|PMID:21525160|PMID:21713996|PMID:21835143|PMID:23281139|PMID:23403822|PMID:23536913|PMID:23796510|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:25802881|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:29059381|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9267696|PMID:9626141 12384187 GNAS GNAS complex locus gene DOID:9005321 Primary Pigmented Nodular Adrenocortical Disease, 1 ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nodular primary adrenocortical dysplasia PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9267696|PMID:9626141 12384187 GNAS GNAS complex locus gene DOID:9005950 Orthostatic Hypotension susceptibility ISO RGD:736916 D RGD:9068941 20200609 RGD DNA:SNP: : 393T>C(human) PMID:11910300|REF_RGD_ID:1580406 12384187 GNAS GNAS complex locus gene DOID:9006113 Gallstones ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21823526 12384187 GNAS GNAS complex locus gene DOID:9007284 Precocious Puberty ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1594625|PMID:1944469 12384187 GNAS GNAS complex locus gene DOID:9007692 Insulin Resistance ISO RGD:736916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17062894 12384187 GNAS GNAS complex locus gene DOID:9008443 Colorectal Neoplasms ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 12384187 GNAS GNAS complex locus gene DOID:9008939 Breast Neoplasms ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 12384187 GNAS GNAS complex locus gene DOID:9970 obesity ISO RGD:736916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:11784876|PMID:12970262|PMID:21525160|PMID:23281139|PMID:23796510|PMID:25741868|PMID:25802881|PMID:28492532|PMID:29059381 12384201 GSTA4 glutathione S-transferase alpha 4 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1320601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20180811 12384201 GSTA4 glutathione S-transferase alpha 4 gene DOID:14330 Parkinson's disease ISO RGD:1320601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16510128 12384201 GSTA4 glutathione S-transferase alpha 4 gene DOID:2349 arteriosclerosis ISO RGD:1320601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15064094|PMID:20177342 12384201 GSTA4 glutathione S-transferase alpha 4 gene DOID:630 genetic disease ISO RGD:1320601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384201 GSTA4 glutathione S-transferase alpha 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1309970 D RGD:9068941 20200609 RGD mRNA:increased expression:lumbar segment of spinal cord (rat) PMID:22160604|REF_RGD_ID:5687769 12384201 GSTA4 glutathione S-transferase alpha 4 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1309970 D RGD:9068941 20200609 RGD PMID:23075396|REF_RGD_ID:9685568 12384201 GSTA4 glutathione S-transferase alpha 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309970 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, kidney, liver (rat) PMID:14693714|REF_RGD_ID:5687773 12384201 GSTA4 glutathione S-transferase alpha 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1320601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12384201 GSTA4 glutathione S-transferase alpha 4 gene DOID:9007692 Insulin Resistance ISO RGD:1320601 D RGD:9068941 20200609 RGD mRNA:decreased expression:omental fat pad, subcutaneous adipose tissue (human) PMID:20150287|REF_RGD_ID:5687771 12384201 GSTA4 glutathione S-transferase alpha 4 gene DOID:9007730 Burns ISO RGD:1320601 D RGD:9068941 20200609 RGD mRNA:altered expression:fat, muscle, skin (human) PMID:22038048|REF_RGD_ID:5687774 12384201 GSTA4 glutathione S-transferase alpha 4 gene DOID:9008691 Liver Injury ISO RGD:1309970 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:23159886|REF_RGD_ID:10401911 12384220 STEAP1 STEAP family member 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12384220 STEAP1 STEAP family member 1 gene DOID:630 genetic disease ISO RGD:1323057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384232 NRAP nebulin related anchoring protein gene DOID:0050700 cardiomyopathy ISO RGD:1315517 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:33534821 12384232 NRAP nebulin related anchoring protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1315517 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 12384232 NRAP nebulin related anchoring protein gene DOID:630 genetic disease ISO RGD:1315517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384232 NRAP nebulin related anchoring protein gene DOID:9005359 Hereditary Thrombophilia ISO RGD:1315517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor VII Marburg I Variant Thrombophilia 12384232 NRAP nebulin related anchoring protein gene DOID:9007820 Sudden Death ISO RGD:1315517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death 12384287 RSL1D1 ribosomal L1 domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1350657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12384287 RSL1D1 ribosomal L1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1350657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384300 USP14 ubiquitin specific peptidase 14 gene DOID:0050646 distal arthrogryposis ISO RGD:1323483 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis and CNS involvement PMID:25741868|PMID:35066879 12384300 USP14 ubiquitin specific peptidase 14 gene DOID:12849 autistic disorder ISO RGD:1323483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12384300 USP14 ubiquitin specific peptidase 14 gene DOID:630 genetic disease ISO RGD:1323483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384300 USP14 ubiquitin specific peptidase 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12384321 XCR1 X-C motif chemokine receptor 1 gene DOID:630 genetic disease ISO RGD:1322962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384321 XCR1 X-C motif chemokine receptor 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1322962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12384327 PEX5 peroxisomal biogenesis factor 5 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1316906 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12384327 PEX5 peroxisomal biogenesis factor 5 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1316906 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder due to PEX5 defect PMID:25741868 12384327 PEX5 peroxisomal biogenesis factor 5 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1316906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12384327 PEX5 peroxisomal biogenesis factor 5 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1316906 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) PMID:25741868|PMID:28492532|PMID:32901917|PMID:33584783|PMID:35346031 12384327 PEX5 peroxisomal biogenesis factor 5 gene DOID:0080477 peroxisome biogenesis disorder 2A ISO RGD:1316906 D RGD:7240710 20180130 OMIM 12384327 PEX5 peroxisomal biogenesis factor 5 gene DOID:0080477 peroxisome biogenesis disorder 2A ISO RGD:1316906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2A (Zellweger) PMID:17576681|PMID:18712838|PMID:21031596|PMID:25741868|PMID:26344566|PMID:28492532|PMID:32901917|PMID:33584783|PMID:35346031|PMID:7719337|PMID:9536098 12384327 PEX5 peroxisomal biogenesis factor 5 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1316906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12384327 PEX5 peroxisomal biogenesis factor 5 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1316906 D RGD:7240710 20180130 OMIM 12384327 PEX5 peroxisomal biogenesis factor 5 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1316906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:16199547|PMID:17576681|PMID:18712838|PMID:21031596|PMID:25741868|PMID:26344566|PMID:27290639|PMID:28492532|PMID:32901917|PMID:33584783|PMID:35346031|PMID:7719337|PMID:9536098 12384327 PEX5 peroxisomal biogenesis factor 5 gene DOID:0110854 rhizomelic chondrodysplasia punctata type 5 ISO RGD:1316906 D RGD:7240710 20180130 OMIM 12384327 PEX5 peroxisomal biogenesis factor 5 gene DOID:0110854 rhizomelic chondrodysplasia punctata type 5 ISO RGD:1316906 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 PMID:25741868|PMID:26220973|PMID:28492532 12384327 PEX5 peroxisomal biogenesis factor 5 gene DOID:0111621 Temtamy syndrome ISO RGD:1316906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12384327 PEX5 peroxisomal biogenesis factor 5 gene DOID:10907 microcephaly ISO RGD:1316906 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:32901917|PMID:33584783|PMID:35346031 12384327 PEX5 peroxisomal biogenesis factor 5 gene DOID:2580 rhizomelic chondrodysplasia punctata ISO RGD:1316906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata PMID:26220973 12384327 PEX5 peroxisomal biogenesis factor 5 gene DOID:630 genetic disease ISO RGD:1316906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:32901917|PMID:33584783|PMID:35346031|PMID:9536098 12384327 PEX5 peroxisomal biogenesis factor 5 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1316906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12384327 PEX5 peroxisomal biogenesis factor 5 gene DOID:905 Zellweger syndrome ISO RGD:1316907 D RGD:9068941 20200609 RGD PMID:11583975|PMID:28866057|PMID:9288097|REF_RGD_ID:13207457|REF_RGD_ID:25440483|REF_RGD_ID:25440485 12384327 PEX5 peroxisomal biogenesis factor 5 gene DOID:906 peroxisomal disease ISO RGD:1316907 D RGD:9068941 20200609 RGD PMID:15732085|REF_RGD_ID:13207458 12384327 PEX5 peroxisomal biogenesis factor 5 gene DOID:9452 fatty liver disease ISO RGD:1316907 D RGD:9068941 20200609 RGD PMID:21756965|REF_RGD_ID:25440484 12384361 OPRK1 opioid receptor kappa 1 gene DOID:0060001 withdrawal disorder ISO RGD:69478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20232057|PMID:9463367 12384361 OPRK1 opioid receptor kappa 1 gene DOID:0060001 withdrawal disorder treatment ISO RGD:69426 D RGD:9068941 20200609 RGD PMID:22515275|REF_RGD_ID:9834942 12384361 OPRK1 opioid receptor kappa 1 gene DOID:5419 schizophrenia ISO RGD:69478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12384361 OPRK1 opioid receptor kappa 1 gene DOID:5844 myocardial infarction ISO RGD:69426 D RGD:9068941 20200609 RGD PMID:15076225|REF_RGD_ID:9831425 12384361 OPRK1 opioid receptor kappa 1 gene DOID:630 genetic disease ISO RGD:69478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384361 OPRK1 opioid receptor kappa 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:69426 D RGD:9068941 20200609 RGD PMID:15076225|REF_RGD_ID:9831425 12384361 OPRK1 opioid receptor kappa 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:69478 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16995444 12384361 OPRK1 opioid receptor kappa 1 gene DOID:9000641 Pain ISO RGD:69478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9463367 12384361 OPRK1 opioid receptor kappa 1 gene DOID:9002211 Hyperalgesia treatment ISO RGD:69426 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:16924480|REF_RGD_ID:9834947 12384361 OPRK1 opioid receptor kappa 1 gene DOID:9002916 Hyperphagia ISO RGD:69426 D RGD:9068941 20200609 RGD PMID:9808678|REF_RGD_ID:9831410 12384361 OPRK1 opioid receptor kappa 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:69478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18575850|PMID:20232055 12384361 OPRK1 opioid receptor kappa 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69426 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve, peroneal nerve: PMID:16924480|REF_RGD_ID:9834947 12384361 OPRK1 opioid receptor kappa 1 gene DOID:9976 heroin dependence ISO RGD:69426 D RGD:9068941 20200609 RGD PMID:24725195|REF_RGD_ID:9831447 12384369 RGS5 regulator of G protein signaling 5 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:730866 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs15049) C>A (human) PMID:27354594|REF_RGD_ID:152177496 12384369 RGS5 regulator of G protein signaling 5 gene DOID:10763 hypertension ISO RGD:730866 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1798635 12384369 RGS5 regulator of G protein signaling 5 gene DOID:10763 hypertension treatment ISO RGD:3568 D RGD:9068941 20200609 RGD PMID:21825230|REF_RGD_ID:7207400 12384369 RGS5 regulator of G protein signaling 5 gene DOID:10825 essential hypertension ISO RGD:730866 D RGD:7240710 20180130 OMIM 12384369 RGS5 regulator of G protein signaling 5 gene DOID:1540 parathyroid carcinoma ISO RGD:730866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12384369 RGS5 regulator of G protein signaling 5 gene DOID:630 genetic disease ISO RGD:730866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384369 RGS5 regulator of G protein signaling 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12384369 RGS5 regulator of G protein signaling 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12384378 RHOH ras homolog family member H gene DOID:0060019 coronin-1A deficiency ISO RGD:1316925 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis PMID:25741868|PMID:28492532 12384378 RHOH ras homolog family member H gene DOID:630 genetic disease ISO RGD:1316925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12384378 RHOH ras homolog family member H gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1316925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 12384378 RHOH ras homolog family member H gene DOID:9001570 Epidermodysplasia Verruciformis 4 ISO RGD:1316925 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4 PMID:22850876|PMID:25741868|PMID:28492532 12384378 RHOH ras homolog family member H gene DOID:9001570 Epidermodysplasia Verruciformis 4 susceptibility ISO RGD:1316925 D RGD:7240710 20190502 OMIM 12384390 IL17B interleukin 17B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352071 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12384390 IL17B interleukin 17B gene DOID:630 genetic disease ISO RGD:1352071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384390 IL17B interleukin 17B gene DOID:9003318 Keratoconus 1 ISO RGD:1352071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 1 12384390 IL17B interleukin 17B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12384390 IL17B interleukin 17B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352071 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12384400 UTP18 UTP18 small subunit processome component gene DOID:630 genetic disease ISO RGD:1349005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384422 CLIC3 chloride intracellular channel 3 gene DOID:0050777 Joubert syndrome ISO RGD:1316330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12384422 CLIC3 chloride intracellular channel 3 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1316330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12384422 CLIC3 chloride intracellular channel 3 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1316330 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12384422 CLIC3 chloride intracellular channel 3 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1316330 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12384422 CLIC3 chloride intracellular channel 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12384422 CLIC3 chloride intracellular channel 3 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1316330 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12384422 CLIC3 chloride intracellular channel 3 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12384422 CLIC3 chloride intracellular channel 3 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316330 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12384422 CLIC3 chloride intracellular channel 3 gene DOID:0081097 Rafiq syndrome ISO RGD:1316330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12384422 CLIC3 chloride intracellular channel 3 gene DOID:1826 epilepsy ISO RGD:1316330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12384422 CLIC3 chloride intracellular channel 3 gene DOID:3652 Leigh disease ISO RGD:1316330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12384422 CLIC3 chloride intracellular channel 3 gene DOID:630 genetic disease ISO RGD:1316330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384422 CLIC3 chloride intracellular channel 3 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1316330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12384448 METTL21A methyltransferase 21A, HSPA lysine gene DOID:14557 primary pulmonary hypertension ISO RGD:1602980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12384448 METTL21A methyltransferase 21A, HSPA lysine gene DOID:630 genetic disease ISO RGD:1602980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384448 METTL21A methyltransferase 21A, HSPA lysine gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12384462 RPL31 ribosomal protein L31 gene DOID:630 genetic disease ISO RGD:734080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384462 RPL31 ribosomal protein L31 gene DOID:9008939 Breast Neoplasms ISO RGD:734080 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12384471 ARSF arylsulfatase F gene DOID:0060041 autism spectrum disorder ISO RGD:1344739 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12384471 ARSF arylsulfatase F gene DOID:12849 autistic disorder ISO RGD:1344739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12384471 ARSF arylsulfatase F gene DOID:630 genetic disease ISO RGD:1344739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384471 ARSF arylsulfatase F gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12384488 KRT14 keratin 14 gene DOID:0060735 epidermolysis bullosa simplex Dowling-Meara type ISO RGD:1316672 D RGD:9068941 20220825 MouseDO OMIM:131760 12384488 KRT14 keratin 14 gene DOID:0080511 epidermolysis bullosa simplex generalized type ISO RGD:1316671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type PMID:10583131|PMID:11331879|PMID:11710919|PMID:11990248|PMID:16098032|PMID:1703046|PMID:1717157|PMID:1720261|PMID:20151404|PMID:20301543|PMID:21623745|PMID:2365356|PMID:25326635|PMID:25741868|PMID:26743602|PMID:28492532|PMID:31957133|PMID:7682883 12384488 KRT14 keratin 14 gene DOID:0111342 dermatopathia pigmentosa reticularis ISO RGD:1316671 D RGD:7240710 20180130 OMIM 12384488 KRT14 keratin 14 gene DOID:0111342 dermatopathia pigmentosa reticularis ISO RGD:1316671 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dermatopathia pigmentosa reticularis PMID:10730767|PMID:11710919|PMID:1303619|PMID:16098032|PMID:1717157|PMID:20301543|PMID:25741868|PMID:26743602|PMID:28492532 12384488 KRT14 keratin 14 gene DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome ISO RGD:1316671 D RGD:7240710 20180130 OMIM 12384488 KRT14 keratin 14 gene DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome ISO RGD:1316671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Naegeli-Franceschetti-Jadassohn syndrome PMID:13141721|PMID:8496458 12384488 KRT14 keratin 14 gene DOID:10123 pigmentation disease ISO RGD:1316671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16960809 12384488 KRT14 keratin 14 gene DOID:14501 Sjogren-Larsson syndrome ISO RGD:1316671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sjögren-Larsson syndrome PMID:10971341|PMID:16614722|PMID:25741868|PMID:27283507|PMID:28492532|PMID:28830826|PMID:29130490 12384488 KRT14 keratin 14 gene DOID:1749 squamous cell carcinoma ISO RGD:1316671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16543248 12384488 KRT14 keratin 14 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1316671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16543248 12384488 KRT14 keratin 14 gene DOID:4644 epidermolysis bullosa simplex ISO RGD:1316671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive PMID:10583131|PMID:10971341|PMID:11331879|PMID:12925204|PMID:16098032|PMID:16614722|PMID:1717157|PMID:20151404|PMID:20301543|PMID:21623745|PMID:25326635|PMID:25741868|PMID:26743602|PMID:27283507|PMID:28492532|PMID:28830826|PMID:29130490|PMID:31957133|PMID:8601736 12384488 KRT14 keratin 14 gene DOID:4644 epidermolysis bullosa simplex susceptibility ISO RGD:1316671 D RGD:9068941 20200609 RGD DNA:point mutations PMID:1717157|REF_RGD_ID:1600173 12384488 KRT14 keratin 14 gene DOID:630 genetic disease ISO RGD:1316671 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12384488 KRT14 keratin 14 gene DOID:7134 esophagus small cell carcinoma ISO RGD:1307463 D RGD:9068941 20200609 RGD protein:increased expression:esophagus PMID:16140947|REF_RGD_ID:1600174 12384488 KRT14 keratin 14 gene DOID:9000523 Generalized Epidermolysis Bullosa Simplex 1B ISO RGD:1316671 D RGD:7240710 20211027 OMIM 12384488 KRT14 keratin 14 gene DOID:9000523 Generalized Epidermolysis Bullosa Simplex 1B ISO RGD:1316671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type PMID:10583131|PMID:11331879|PMID:11710919|PMID:11990248|PMID:16098032|PMID:1703046|PMID:1717157|PMID:1720261|PMID:20151404|PMID:20301543|PMID:21623745|PMID:2365356|PMID:25326635|PMID:25741868|PMID:26743602|PMID:28492532|PMID:31957133|PMID:7682883 12384488 KRT14 keratin 14 gene DOID:9000954 Parakeratosis ISO RGD:1307463 D RGD:9068941 20200609 RGD PMID:15809047|REF_RGD_ID:1600175 12384488 KRT14 keratin 14 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1307463 D RGD:9068941 20200609 RGD mRNA:decreased expression:epithelial cell PMID:9876218|REF_RGD_ID:1600180 12384488 KRT14 keratin 14 gene DOID:9002302 Generalized Severe Epidermolysis Bullosa Simplex 1A ISO RGD:1316671 D RGD:7240710 20211103 OMIM 12384488 KRT14 keratin 14 gene DOID:9002302 Generalized Severe Epidermolysis Bullosa Simplex 1A ISO RGD:1316671 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe PMID:10583131|PMID:10730767|PMID:11331879|PMID:11710919|PMID:16098032|PMID:16439965|PMID:1717157|PMID:20151404|PMID:20301543|PMID:21623745|PMID:25326635|PMID:25741868|PMID:26743602|PMID:27283507|PMID:28492532|PMID:31957133|PMID:9804355 12384488 KRT14 keratin 14 gene DOID:9002684 Localized Epidermolysis Bullosa Simplex 1C ISO RGD:1316671 D RGD:7240710 20211103 OMIM 12384488 KRT14 keratin 14 gene DOID:9002684 Localized Epidermolysis Bullosa Simplex 1C ISO RGD:1316671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized PMID:11710919|PMID:17039244|PMID:23746086|PMID:25741868|PMID:27283507|PMID:28492532|PMID:32884918|PMID:32885477|PMID:7506606|PMID:7561171|PMID:9284105 12384488 KRT14 keratin 14 gene DOID:9005873 Tongue Neoplasms ISO RGD:1316671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16543248 12384488 KRT14 keratin 14 gene DOID:9006519 Generalized Epidermolysis Bullosa Simplex 1D ISO RGD:1316671 D RGD:7240710 20180130 OMIM 12384488 KRT14 keratin 14 gene DOID:9006519 Generalized Epidermolysis Bullosa Simplex 1D ISO RGD:1316671 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive PMID:10971341|PMID:16614722|PMID:25741868|PMID:27283507|PMID:28492532|PMID:28830826|PMID:29130490|PMID:7525407|PMID:7525408|PMID:7526933|PMID:8875963 12384488 KRT14 keratin 14 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1316671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 12384488 KRT14 keratin 14 gene DOID:9008939 Breast Neoplasms ISO RGD:1316671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 12384502 LONRF3 LON peptidase N-terminal domain and ring finger 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12384502 LONRF3 LON peptidase N-terminal domain and ring finger 3 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1351493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 12384502 LONRF3 LON peptidase N-terminal domain and ring finger 3 gene DOID:12849 autistic disorder ISO RGD:1351493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12384502 LONRF3 LON peptidase N-terminal domain and ring finger 3 gene DOID:630 genetic disease ISO RGD:1351493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384537 RXFP1 relaxin family peptide receptor 1 gene DOID:11372 megacolon ISO RGD:1351067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12384537 RXFP1 relaxin family peptide receptor 1 gene DOID:289 endometriosis ISO RGD:1351067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12384537 RXFP1 relaxin family peptide receptor 1 gene DOID:630 genetic disease ISO RGD:1351067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384568 TNKS2 tankyrase 2 gene DOID:630 genetic disease ISO RGD:1312811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384609 GALP galanin like peptide gene DOID:630 genetic disease ISO RGD:1604259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384609 GALP galanin like peptide gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620187 D RGD:9068941 20200609 RGD PMID:16046316|REF_RGD_ID:2313737 12384609 GALP galanin like peptide gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620187 D RGD:9068941 20200609 RGD mRNA:increased expression:arcuate nucleus, pars posterior PMID:15256810|REF_RGD_ID:2313739 12384609 GALP galanin like peptide gene DOID:9970 obesity ISO RGD:620187 D RGD:9068941 20200609 RGD mRNA:decreased expression:arcuate nucleus PMID:15256810|REF_RGD_ID:2313739 12384679 DNASE1 deoxyribonuclease 1 gene DOID:0060643 primary sclerosing cholangitis ISO RGD:736197 D RGD:9068941 20200813 RGD protein:decreased activity:serum (human) PMID:28263100|REF_RGD_ID:38500241 12384679 DNASE1 deoxyribonuclease 1 gene DOID:0080205 CAKUT ISO RGD:736197 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:28492532|PMID:30143558 12384679 DNASE1 deoxyribonuclease 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12384679 DNASE1 deoxyribonuclease 1 gene DOID:12236 primary biliary cholangitis ISO RGD:736197 D RGD:9068941 20200813 RGD protein:decreased activity:serum (human) PMID:28263100|REF_RGD_ID:38500241 12384679 DNASE1 deoxyribonuclease 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:736197 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28780505 12384679 DNASE1 deoxyribonuclease 1 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:736197 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 12384679 DNASE1 deoxyribonuclease 1 gene DOID:1682 congenital heart disease ISO RGD:736197 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 12384679 DNASE1 deoxyribonuclease 1 gene DOID:1826 epilepsy ISO RGD:736197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12384679 DNASE1 deoxyribonuclease 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736197 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12384679 DNASE1 deoxyribonuclease 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:736197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12384679 DNASE1 deoxyribonuclease 1 gene DOID:2048 autoimmune hepatitis ISO RGD:736197 D RGD:9068941 20200813 RGD protein:decreased activity:serum (human) PMID:28263100|REF_RGD_ID:38500241 12384679 DNASE1 deoxyribonuclease 1 gene DOID:3459 breast carcinoma ISO RGD:736197 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: HER2 positive breast carcinoma PMID:25741868|PMID:28492532 12384679 DNASE1 deoxyribonuclease 1 gene DOID:4455 hereditary renal cell carcinoma ISO RGD:736197 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary renal cell carcinoma PMID:28492532 12384679 DNASE1 deoxyribonuclease 1 gene DOID:576 proteinuria ISO RGD:736197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22479529 12384679 DNASE1 deoxyribonuclease 1 gene DOID:630 genetic disease ISO RGD:736197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12384679 DNASE1 deoxyribonuclease 1 gene DOID:9005700 Airway Obstruction ISO RGD:736197 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28780505 12384679 DNASE1 deoxyribonuclease 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:736197 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:10835632|PMID:11479590|PMID:15333586|PMID:18486922|PMID:24206041|PMID:25741868 12384679 DNASE1 deoxyribonuclease 1 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:736197 D RGD:7240710 20230505 OMIM 12384697 RBM47 RNA binding motif protein 47 gene DOID:630 genetic disease ISO RGD:1642917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384697 RBM47 RNA binding motif protein 47 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1642917 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12384697 RBM47 RNA binding motif protein 47 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1642917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 12384723 MFHAS1 multifunctional ROCO family signaling regulator 1 gene DOID:2661 myoepithelioma ISO RGD:1318798 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12384723 MFHAS1 multifunctional ROCO family signaling regulator 1 gene DOID:4415 fibrous histiocytoma ISO RGD:1318798 D RGD:9068941 20200609 RGD PMID:9973190|REF_RGD_ID:1599928 12384723 MFHAS1 multifunctional ROCO family signaling regulator 1 gene DOID:630 genetic disease ISO RGD:1318798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384723 MFHAS1 multifunctional ROCO family signaling regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12384730 HIPK4 homeodomain interacting protein kinase 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1316795 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12384730 HIPK4 homeodomain interacting protein kinase 4 gene DOID:10283 prostate cancer ISO RGD:1316795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12384730 HIPK4 homeodomain interacting protein kinase 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1316795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12384730 HIPK4 homeodomain interacting protein kinase 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1316795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12384730 HIPK4 homeodomain interacting protein kinase 4 gene DOID:2340 craniosynostosis ISO RGD:1316795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12384730 HIPK4 homeodomain interacting protein kinase 4 gene DOID:630 genetic disease ISO RGD:1316795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384730 HIPK4 homeodomain interacting protein kinase 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1316795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12384730 HIPK4 homeodomain interacting protein kinase 4 gene DOID:9269 maple syrup urine disease ISO RGD:1316795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12384730 HIPK4 homeodomain interacting protein kinase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1316795 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:0050441 mucosulfatidosis ISO RGD:732978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple sulfatase deficiency PMID:28492532 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:0050753 cerebellar ataxia ISO RGD:732978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:0050952 spastic ataxia ISO RGD:732978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:26467025 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:0050965 spinocerebellar ataxia type 15 ISO RGD:732978 D RGD:7240710 20180130 OMIM 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:0050965 spinocerebellar ataxia type 15 ISO RGD:732978 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16 PMID:14981189|PMID:17932120|PMID:18579805|PMID:20669319|PMID:21681106|PMID:24091540|PMID:25326635|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29925855|PMID:31632679|PMID:34008892 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:0050978 spinocerebellar ataxia type 29 ISO RGD:732978 D RGD:7240710 20180130 OMIM 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:0050978 spinocerebellar ataxia type 29 ISO RGD:732978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 29 PMID:10664581|PMID:15623688|PMID:23806086|PMID:24088041|PMID:24091540|PMID:25326635|PMID:25326637|PMID:25741868|PMID:25794864|PMID:25981959|PMID:26257172|PMID:26467025|PMID:27062503|PMID:27108798|PMID:27572814|PMID:28488678|PMID:28492532|PMID:28620721|PMID:28659154|PMID:28826917|PMID:29389947|PMID:29925855|PMID:30778698|PMID:31632679|PMID:32499604|PMID:33163565|PMID:35351177 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:0060319 cardiac arrest ISO RGD:2933 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum (rat) PMID:21859719|REF_RGD_ID:6480675 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:0060648 anterior segment dysgenesis ISO RGD:732978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:25741868|PMID:27108798|PMID:32499604 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:0070111 Niemann-Pick disease type A disease_progression ISO RGD:10821 D RGD:9068941 20200609 RGD protein:decreased expression:cerebellum (mouse) PMID:16277603|REF_RGD_ID:6482797 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:0111578 Gillespie syndrome IAGP D RGD:12801476 20210603 OMIA Ataxia, spinocerebellar, ITPR1-related PMID:25354648 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:0111578 Gillespie syndrome ISO RGD:732978 D RGD:7240710 20190315 OMIM 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:0111578 Gillespie syndrome ISO RGD:732978 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gillespie syndrome PMID:10664581|PMID:17558851|PMID:17576681|PMID:21465660|PMID:24091540|PMID:25741868|PMID:25794864|PMID:26467025|PMID:27062503|PMID:27108797|PMID:27108798|PMID:27391121|PMID:27862915|PMID:28492532|PMID:28659154|PMID:28826917|PMID:29169895|PMID:29482223|PMID:29925855|PMID:30564305|PMID:32499604|PMID:7952360|PMID:9536098 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:1059 intellectual disability ISO RGD:732978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21367767|PMID:25741868|PMID:26467025|PMID:28492532 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:10652 Alzheimer's disease ISO RGD:732978 D RGD:9068941 20200609 RGD protein:decreased expression:temporal cortex, frontal cortex (human) PMID:8819138|REF_RGD_ID:6482821 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:12858 Huntington's disease ISO RGD:10821 D RGD:9068941 20200609 RGD PMID:19193873|REF_RGD_ID:6480875 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:12858 Huntington's disease ISO RGD:10821 D RGD:9068941 20200609 RGD protein:decreased activity:cerebellum, striatum (mouse) PMID:21145001|REF_RGD_ID:6480685 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:12858 Huntington's disease ISO RGD:2933 D RGD:9068941 20200609 RGD protein:decreased expression:neostriatum (rat) PMID:9761455|REF_RGD_ID:6483009 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:1289 neurodegenerative disease onset ISO RGD:10821 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebellum (mouse) PMID:20219645|REF_RGD_ID:6480870 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:12930 dilated cardiomyopathy no_association ISO RGD:732978 D RGD:9068941 20200609 RGD PMID:8567977|REF_RGD_ID:1556475 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:732978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:17590087|PMID:19423733|PMID:20437544|PMID:21367767|PMID:21555639|PMID:25741868|PMID:26467025|PMID:27108797|PMID:28492532|PMID:28659154|PMID:28660440|PMID:29186133|PMID:29232918|PMID:29758065|PMID:29925855|PMID:30778698 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:1826 epilepsy ISO RGD:10821 D RGD:9068941 20200609 RGD PMID:10426189|REF_RGD_ID:6482816 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:224 transient cerebral ischemia ISO RGD:2933 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex (rat) PMID:7500836|REF_RGD_ID:6482813 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:2841 asthma ISO RGD:2933 D RGD:9068941 20200609 RGD PMID:21777465|REF_RGD_ID:5147661 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:480 movement disease ISO RGD:732978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Movement disorder PMID:25741868 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:630 genetic disease ISO RGD:732978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10664581|PMID:15623688|PMID:17576681|PMID:19344873|PMID:24091540|PMID:25326635|PMID:25741868|PMID:25794864|PMID:26467025|PMID:27062503|PMID:27108797|PMID:27108798|PMID:27572814|PMID:28492532|PMID:28620721|PMID:28659154|PMID:28826917|PMID:29925855|PMID:30778698|PMID:31632679|PMID:32499604|PMID:35351177|PMID:9536098 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:9002120 Congenital Mydriasis ISO RGD:732978 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Bilateral congenital mydriasis PMID:25741868 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:9002211 Hyperalgesia ISO RGD:2933 D RGD:9068941 20200609 RGD PMID:25972297|REF_RGD_ID:13793383 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:9002669 Hypoxia ISO RGD:2933 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:28072885|REF_RGD_ID:13793382 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732978 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:10664581|PMID:24091540|PMID:25741868|PMID:25794864|PMID:27062503|PMID:28492532|PMID:28659154|PMID:28826917|PMID:29925855 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:9004756 Brain Hypoxia ISO RGD:10821 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebellum (mouse) PMID:17285299|REF_RGD_ID:6482794 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:9004756 Brain Hypoxia ISO RGD:732978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17285299 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:9004866 Ataxia ISO RGD:10821 D RGD:9068941 20200609 RGD PMID:10426189|REF_RGD_ID:6482816 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12384742 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 gene DOID:9351 diabetes mellitus susceptibility ISO RGD:10821 D RGD:9068941 20200609 RGD DNA:deletion:exon:p.Q1715_R1731del (mouse) PMID:21565852|REF_RGD_ID:6480678 12384822 DCUN1D2 defective in cullin neddylation 1 domain containing 2 gene DOID:2222 factor X deficiency ISO RGD:1323358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12384822 DCUN1D2 defective in cullin neddylation 1 domain containing 2 gene DOID:630 genetic disease ISO RGD:1323358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384822 DCUN1D2 defective in cullin neddylation 1 domain containing 2 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1323358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 12384831 TRPC4AP transient receptor potential cation channel subfamily C member 4 associated protein gene DOID:2843 long QT syndrome ISO RGD:1320513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome PMID:28492532 12384831 TRPC4AP transient receptor potential cation channel subfamily C member 4 associated protein gene DOID:630 genetic disease ISO RGD:1320513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384859 DCLK1 doublecortin like kinase 1 gene DOID:630 genetic disease ISO RGD:68655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384859 DCLK1 doublecortin like kinase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:68655 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23202126 12384906 EMC7 ER membrane protein complex subunit 7 gene DOID:2717 Bloom syndrome ISO RGD:1312839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12384906 EMC7 ER membrane protein complex subunit 7 gene DOID:630 genetic disease ISO RGD:1312839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384906 EMC7 ER membrane protein complex subunit 7 gene DOID:9256 colorectal cancer ISO RGD:1312839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12384915 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:0050120 hemophagocytic lymphohistiocytosis ISO RGD:1313140 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:30374066 12384915 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1313140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 12384915 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:1485 cystic fibrosis ISO RGD:1313140 D RGD:9068941 20211008 RGD PMID:21263071|REF_RGD_ID:5135530 12384915 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:1305233 D RGD:9068941 20211008 RGD PMID:24771108|REF_RGD_ID:9686115 12384915 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:2841 asthma ISO RGD:1313141 D RGD:9068941 20211008 RGD PMID:17517968|REF_RGD_ID:5135525 12384915 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:1313140 D RGD:9068941 20211008 RGD PMID:21382414|REF_RGD_ID:5135524 12384915 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:1313140 D RGD:9068941 20211008 RGD DNA:polymorphisms: :-574G>T, +4259T>G (human) PMID:22472081|REF_RGD_ID:7245505 12384915 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:630 genetic disease ISO RGD:1313140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384915 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1313140 D RGD:9068941 20211008 RGD associated with hepatitis B;DNA:SNP: : ���1516 G>T (human) PMID:27034168|REF_RGD_ID:40818257 12384915 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1313140 D RGD:9068941 20211008 RGD DNA:polymorphisms: : +4259T>G (human) PMID:22472081|REF_RGD_ID:7245505 12384915 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:9002457 Experimental Arthritis ISO RGD:1305233 D RGD:9068941 20211008 RGD mRNA,protein:altered expression:bone: PMID:25264706|REF_RGD_ID:9686117 12384915 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1305233 D RGD:9068941 20211008 RGD mRNA:increased expression:spinal cord: PMID:15913792|REF_RGD_ID:9686113 12384915 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1313141 D RGD:9068941 20211008 RGD PMID:11823861|REF_RGD_ID:9686086 12384915 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:1305233 D RGD:9068941 20211008 RGD mRNA,protein:increased expression:lung: PMID:24508263|REF_RGD_ID:9686116 12384915 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:1313140 D RGD:9068941 20211008 RGD mRNA:increased expression:Leukocytes, Mononuclear: PMID:22172823|REF_RGD_ID:7245954 12384915 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:9006647 Experimental Autoimmune Neuritis disease_progression ISO RGD:1305233 D RGD:9068941 20211008 RGD mRNA,protein:increased expression:sciatic nerve: PMID:21784136|REF_RGD_ID:9686114 12384915 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:9007356 Eczema ISO RGD:1313140 D RGD:9068941 20211008 RGD PMID:16159638|REF_RGD_ID:5128852 12384915 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:9008980 Subcutaneous Panniculitis-like T-Cell Lymphoma ISO RGD:1313140 D RGD:7240710 20211006 OMIM 12384915 HAVCR2 hepatitis A virus cellular receptor 2 gene DOID:9008980 Subcutaneous Panniculitis-like T-Cell Lymphoma ISO RGD:1313140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Subcutaneous panniculitis-like T-cell lymphoma PMID:25741868|PMID:30374066|PMID:30792187 12384924 RABL6 RAB, member RAS oncogene family like 6 gene DOID:0050777 Joubert syndrome ISO RGD:1316912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12384924 RABL6 RAB, member RAS oncogene family like 6 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1316912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12384924 RABL6 RAB, member RAS oncogene family like 6 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1316912 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12384924 RABL6 RAB, member RAS oncogene family like 6 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1316912 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12384924 RABL6 RAB, member RAS oncogene family like 6 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12384924 RABL6 RAB, member RAS oncogene family like 6 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1316912 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12384924 RABL6 RAB, member RAS oncogene family like 6 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12384924 RABL6 RAB, member RAS oncogene family like 6 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316912 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12384924 RABL6 RAB, member RAS oncogene family like 6 gene DOID:0081097 Rafiq syndrome ISO RGD:1316912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12384924 RABL6 RAB, member RAS oncogene family like 6 gene DOID:1059 intellectual disability ISO RGD:1316912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12384924 RABL6 RAB, member RAS oncogene family like 6 gene DOID:3652 Leigh disease ISO RGD:1316912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12384924 RABL6 RAB, member RAS oncogene family like 6 gene DOID:630 genetic disease ISO RGD:1316912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12384924 RABL6 RAB, member RAS oncogene family like 6 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1316912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732816 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:0112159 autosomal dominant nonsyndromic deafness 78 ISO RGD:732816 D RGD:7240710 20201111 OMIM 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:0112159 autosomal dominant nonsyndromic deafness 78 ISO RGD:732816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 78 PMID:32294086|PMID:32658972 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:10003 sensorineural hearing loss ISO RGD:732816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:28492532|PMID:34374074 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:1059 intellectual disability ISO RGD:732816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:10603 glucose intolerance ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22872759 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:10763 hypertension ISO RGD:620809 D RGD:9068941 20200609 RGD PMID:21814290|REF_RGD_ID:9587757 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:10763 hypertension ISO RGD:620809 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:15020309|REF_RGD_ID:1580582 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:10763 hypertension ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17259435 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:11832 visual epilepsy treatment ISO RGD:620809 D RGD:9068941 20200609 RGD PMID:16227993|REF_RGD_ID:1580584 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:1287 cardiovascular system disease ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15135928 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:1826 epilepsy ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18550034 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:224 transient cerebral ischemia ISO RGD:620809 D RGD:9068941 20200609 RGD PMID:27798271|REF_RGD_ID:14398833 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:305 carcinoma ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:3328 temporal lobe epilepsy ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19674083 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:732816 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:27798271|REF_RGD_ID:14398833 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:620809 D RGD:9068941 20200609 RGD PMID:12535773|REF_RGD_ID:1580583 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:480 movement disease ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15135928 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:630 genetic disease ISO RGD:732816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28940097|PMID:30740830|PMID:32754646|PMID:33345190 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:9002906 Multiple Organ Failure ISO RGD:732816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infant onset multiple organ failure 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:9004538 Hearing Loss ISO RGD:732816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing loss PMID:32294086|PMID:32658972 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:9004923 Delpire-McNeill Syndrome ISO RGD:732816 D RGD:7240710 20201111 OMIM 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:9004923 Delpire-McNeill Syndrome ISO RGD:732816 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Delpire-McNeill syndrome PMID:25741868|PMID:32658972 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:9006128 Kilquist Syndrome ISO RGD:732816 D RGD:7240710 20201111 OMIM 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:9006128 Kilquist Syndrome ISO RGD:732816 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Kilquist syndrome PMID:25741868|PMID:28492532|PMID:30740830|PMID:32658972|PMID:32754646 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12384947 SLC12A2 solute carrier family 12 member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732816 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12385005 TNKS1BP1 tankyrase 1 binding protein 1 gene DOID:1059 intellectual disability ISO RGD:1323786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12385005 TNKS1BP1 tankyrase 1 binding protein 1 gene DOID:2661 myoepithelioma ISO RGD:1323786 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12385005 TNKS1BP1 tankyrase 1 binding protein 1 gene DOID:630 genetic disease ISO RGD:1323786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385021 RFK riboflavin kinase gene DOID:630 genetic disease ISO RGD:1313443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385021 RFK riboflavin kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21308351 12385029 CRYBB2 crystallin beta B2 gene DOID:0110260 cataract 7 ISO RGD:734352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9158139 12385029 CRYBB2 crystallin beta B2 gene DOID:0110269 cataract 3 multiple types ISO RGD:734352 D RGD:7240710 20180130 OMIM 12385029 CRYBB2 crystallin beta B2 gene DOID:0110269 cataract 3 multiple types ISO RGD:734352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CATARACT 3, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 3 multiple types PMID:10634616|PMID:11424921|PMID:15889016|PMID:16199547|PMID:16319073|PMID:17234267|PMID:17653036|PMID:19649175|PMID:22312185|PMID:2240043|PMID:24120835|PMID:24704203|PMID:25741868|PMID:26694549|PMID:27385965|PMID:28492532|PMID:29386872|PMID:29395391|PMID:30450742|PMID:33594837|PMID:8812489|PMID:9158139 12385029 CRYBB2 crystallin beta B2 gene DOID:13141 uveitis ISO RGD:734352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578012|PMID:21850155 12385029 CRYBB2 crystallin beta B2 gene DOID:417 autoimmune disease ISO RGD:734352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21850155 12385029 CRYBB2 crystallin beta B2 gene DOID:630 genetic disease ISO RGD:734352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22312185|PMID:23389822|PMID:24120835|PMID:24704203 12385029 CRYBB2 crystallin beta B2 gene DOID:83 cataract ISO RGD:734352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:10634616|PMID:11424921|PMID:15889016|PMID:17234267|PMID:2240043|PMID:25741868|PMID:26694549|PMID:27385965|PMID:28492532|PMID:29395391|PMID:8812489|PMID:9158139 12385029 CRYBB2 crystallin beta B2 gene DOID:83 cataract susceptibility ISO RGD:734352 D RGD:9068941 20200609 RGD congenital cerulean cataract type 2, OMIM:601547;DNA:nonsense mutation PMID:9158139|REF_RGD_ID:1601011 12385029 CRYBB2 crystallin beta B2 gene DOID:9004255 Cataract, Sutural, with Punctate and Cerulean Opacities ISO RGD:734352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract, sutural, with punctate and cerulean opacities PMID:10634616|PMID:11424921|PMID:15889016|PMID:17234267|PMID:2240043|PMID:25741868|PMID:27385965|PMID:28492532|PMID:29395391|PMID:8812489|PMID:9158139 12385039 GPR162 G protein-coupled receptor 162 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1603661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12385039 GPR162 G protein-coupled receptor 162 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1603661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12385039 GPR162 G protein-coupled receptor 162 gene DOID:0111621 Temtamy syndrome ISO RGD:1603661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12385039 GPR162 G protein-coupled receptor 162 gene DOID:630 genetic disease ISO RGD:1603661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385039 GPR162 G protein-coupled receptor 162 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12385048 STK17B serine/threonine kinase 17b gene DOID:630 genetic disease ISO RGD:732463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385048 STK17B serine/threonine kinase 17b gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12385061 ARL10 ADP ribosylation factor like GTPase 10 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1344087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12385061 ARL10 ADP ribosylation factor like GTPase 10 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1344087 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12385061 ARL10 ADP ribosylation factor like GTPase 10 gene DOID:630 genetic disease ISO RGD:1344087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385068 FOXF1 forkhead box F1 gene DOID:0111985 immunodeficiency 32B ISO RGD:1348211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 32B PMID:28492532 12385068 FOXF1 forkhead box F1 gene DOID:114 heart disease ISO RGD:1348211 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormal cardiac atrium morphology PMID:25741868 12385068 FOXF1 forkhead box F1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1348211 D RGD:7240710 20180130 OMIM 12385068 FOXF1 forkhead box F1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1348211 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alveolar capillary dysplasia with misalignment of pulmonary veins | ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia PMID:15520767|PMID:19500772|PMID:23505205|PMID:24033266|PMID:25741868|PMID:27071622|PMID:27439648|PMID:28469849|PMID:28492532|PMID:30380203 12385068 FOXF1 forkhead box F1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1348211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension PMID:19500772|PMID:19592680|PMID:19812545|PMID:20425831|PMID:22766610|PMID:23034409|PMID:23074687|PMID:23335808|PMID:23505205|PMID:23943206|PMID:24033266|PMID:24842713|PMID:26462560 12385068 FOXF1 forkhead box F1 gene DOID:14679 VACTERL association ISO RGD:1348211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: VATER association PMID:2629409|PMID:26294094 12385068 FOXF1 forkhead box F1 gene DOID:1657 ventricular septal defect ISO RGD:1348211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:25741868 12385068 FOXF1 forkhead box F1 gene DOID:2320 obstructive lung disease ISO RGD:1348211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18421012 12385068 FOXF1 forkhead box F1 gene DOID:350 mastocytosis ISO RGD:1348211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18421012 12385068 FOXF1 forkhead box F1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1348211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27663689 12385068 FOXF1 forkhead box F1 gene DOID:630 genetic disease ISO RGD:1348211 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12385068 FOXF1 forkhead box F1 gene DOID:9000179 Infantile Hypertrophic Pyloric Stenosis 5 ISO RGD:1348211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyloric stenosis, infantile hypertrophic, 5 12385068 FOXF1 forkhead box F1 gene DOID:9000807 Megaduodenum ISO RGD:1348211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal megacystis PMID:25741868 12385068 FOXF1 forkhead box F1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12385074 UTP4 UTP4 small subunit processome component gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1322745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12385074 UTP4 UTP4 small subunit processome component gene DOID:12236 primary biliary cholangitis ISO RGD:1322745 D RGD:9068941 20200609 RGD North American Indian childhood cirrhosis, OMIM:604901, R565W PMID:12417987|REF_RGD_ID:1600653 12385074 UTP4 UTP4 small subunit processome component gene DOID:13580 cholestasis ISO RGD:1322745 D RGD:9068941 20200609 RGD North American Indian childhood cirrhosis, OMIM:604901, R565W PMID:12417987|REF_RGD_ID:1600653 12385074 UTP4 UTP4 small subunit processome component gene DOID:630 genetic disease ISO RGD:1322745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385074 UTP4 UTP4 small subunit processome component gene DOID:9006899 North American Indian Childhood Cirrhosis ISO RGD:1322745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary North American Indian childhood cirrhosis PMID:12417987|PMID:16225863|PMID:19732766|PMID:20385600|PMID:22916032|PMID:24123366|PMID:25741868|PMID:27535533|PMID:28492532 12385093 SLC8A3 solute carrier family 8 member A3 gene DOID:10283 prostate cancer ISO RGD:732656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12385093 SLC8A3 solute carrier family 8 member A3 gene DOID:10652 Alzheimer's disease ISO RGD:732656 D RGD:9068941 20200609 RGD protein:altered expression:parietal cortex, synaptosome: PMID:21382638|REF_RGD_ID:13628395 12385093 SLC8A3 solute carrier family 8 member A3 gene DOID:1824 status epilepticus ISO RGD:620197 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:15461673|REF_RGD_ID:2316980 12385093 SLC8A3 solute carrier family 8 member A3 gene DOID:1824 status epilepticus ISO RGD:732656 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20888801 12385093 SLC8A3 solute carrier family 8 member A3 gene DOID:2316 brain ischemia ISO RGD:620197 D RGD:9068941 20200609 RGD PMID:16107787|REF_RGD_ID:2316979 12385093 SLC8A3 solute carrier family 8 member A3 gene DOID:630 genetic disease ISO RGD:732656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385093 SLC8A3 solute carrier family 8 member A3 gene DOID:9004009 Reperfusion Injury ISO RGD:620197 D RGD:9068941 20200609 RGD PMID:18037393|REF_RGD_ID:2316975 12385116 NTNG2 netrin G2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12385116 NTNG2 netrin G2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1316073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12385116 NTNG2 netrin G2 gene DOID:3312 bipolar disorder ISO RGD:1316073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17507910 12385116 NTNG2 netrin G2 gene DOID:5419 schizophrenia ISO RGD:1316073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17507910 12385116 NTNG2 netrin G2 gene DOID:630 genetic disease ISO RGD:1316073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385116 NTNG2 netrin G2 gene DOID:9000211 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE ISO RGD:1316073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language PMID:25741868|PMID:31668703 12385116 NTNG2 netrin G2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:31668703 12385116 NTNG2 netrin G2 gene DOID:9006418 NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA ISO RGD:1316073 D RGD:7240710 20200115 OMIM 12385116 NTNG2 netrin G2 gene DOID:9006418 NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA ISO RGD:1316073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia PMID:25741868|PMID:31372774|PMID:31668703|PMID:31692205 12385116 NTNG2 netrin G2 gene DOID:9006534 Nervous System Malformations ISO RGD:1316073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12385116 NTNG2 netrin G2 gene DOID:9008086 Developmental Disabilities ISO RGD:1316073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:31372774|PMID:31692205 12385137 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1351390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868|PMID:28492532 12385137 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1351390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12385137 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1351390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12385137 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1351390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 12385137 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1351390 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12385137 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0112069 nuclear type mitochondrial complex I deficiency 22 ISO RGD:1351390 D RGD:7240710 20190315 OMIM 12385137 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0112069 nuclear type mitochondrial complex I deficiency 22 ISO RGD:1351390 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 PMID:21150889|PMID:22972949|PMID:25741868|PMID:28247337|PMID:28492532|PMID:33233646|PMID:34827632|PMID:34828274 12385137 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1351390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 12385137 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:1059 intellectual disability ISO RGD:1351390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12385137 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:3652 Leigh disease ISO RGD:1351390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:25741868|PMID:28492532 12385137 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:5419 schizophrenia ISO RGD:1351390 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12385137 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:630 genetic disease ISO RGD:1351390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12385137 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1351390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:28492532 12385137 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1351390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12385151 SLCO3A1 solute carrier organic anion transporter family member 3A1 gene DOID:630 genetic disease ISO RGD:733471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385171 EPN1 epsin 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:619772 D RGD:9068941 20200609 RGD protein:increased degradation:brain PMID:19240038|REF_RGD_ID:13461853 12385171 EPN1 epsin 1 gene DOID:630 genetic disease ISO RGD:1342807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385194 CXXC4 CXXC finger protein 4 gene DOID:630 genetic disease ISO RGD:1354389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385200 CAMK2D calcium/calmodulin dependent protein kinase II delta gene DOID:0060224 atrial fibrillation ISO RGD:736174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12385200 CAMK2D calcium/calmodulin dependent protein kinase II delta gene DOID:11612 polycystic ovary syndrome ISO RGD:736174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12385200 CAMK2D calcium/calmodulin dependent protein kinase II delta gene DOID:12271 aniridia ISO RGD:736174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 12385200 CAMK2D calcium/calmodulin dependent protein kinase II delta gene DOID:1826 epilepsy ISO RGD:2263 D RGD:9068941 20200609 RGD DNA:SNP:intron:g.24024428G>T (rat) PMID:20638246|REF_RGD_ID:6907065 12385200 CAMK2D calcium/calmodulin dependent protein kinase II delta gene DOID:630 genetic disease ISO RGD:736174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385200 CAMK2D calcium/calmodulin dependent protein kinase II delta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12385200 CAMK2D calcium/calmodulin dependent protein kinase II delta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736174 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 12385200 CAMK2D calcium/calmodulin dependent protein kinase II delta gene DOID:9007102 Myocardial Ischemia ISO RGD:736174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12385252 NECTIN2 nectin cell adhesion molecule 2 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27356265 12385252 NECTIN2 nectin cell adhesion molecule 2 gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28659334 12385252 NECTIN2 nectin cell adhesion molecule 2 gene DOID:0080395 orofacial cleft 1 ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21637507 12385252 NECTIN2 nectin cell adhesion molecule 2 gene DOID:0080600 COVID-19 ISO RGD:1319880 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12385252 NECTIN2 nectin cell adhesion molecule 2 gene DOID:10652 Alzheimer's disease ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29107063|PMID:30319691|PMID:30320580 12385252 NECTIN2 nectin cell adhesion molecule 2 gene DOID:10652 Alzheimer's disease ISO RGD:1319880 D RGD:9068941 20200609 RGD DNA:SNP: :rs6859 (human) PMID:22159054|REF_RGD_ID:6484658 12385252 NECTIN2 nectin cell adhesion molecule 2 gene DOID:11054 urinary bladder cancer ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29321541 12385252 NECTIN2 nectin cell adhesion molecule 2 gene DOID:14330 Parkinson's disease ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 12385252 NECTIN2 nectin cell adhesion molecule 2 gene DOID:1936 atherosclerosis ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28062492 12385252 NECTIN2 nectin cell adhesion molecule 2 gene DOID:1969 cerebral palsy ISO RGD:1319880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12385252 NECTIN2 nectin cell adhesion molecule 2 gene DOID:2377 multiple sclerosis ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16738668 12385252 NECTIN2 nectin cell adhesion molecule 2 gene DOID:2377 multiple sclerosis no_association ISO RGD:1319880 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:17376543|REF_RGD_ID:6767565 12385252 NECTIN2 nectin cell adhesion molecule 2 gene DOID:2377 multiple sclerosis severity ISO RGD:1319880 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:c.89-104C>T (rs394221) (human) PMID:16738668|REF_RGD_ID:6767558 12385252 NECTIN2 nectin cell adhesion molecule 2 gene DOID:418 systemic scleroderma ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27482699 12385252 NECTIN2 nectin cell adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1319880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385252 NECTIN2 nectin cell adhesion molecule 2 gene DOID:8566 herpes simplex ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10729168|PMID:11602758|PMID:30319691 12385252 NECTIN2 nectin cell adhesion molecule 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29321541 12385252 NECTIN2 nectin cell adhesion molecule 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12385252 NECTIN2 nectin cell adhesion molecule 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30614027 12385252 NECTIN2 nectin cell adhesion molecule 2 gene DOID:9002321 Teratozoospermia ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28689229 12385252 NECTIN2 nectin cell adhesion molecule 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23758976 12385252 NECTIN2 nectin cell adhesion molecule 2 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30503753 12385252 NECTIN2 nectin cell adhesion molecule 2 gene DOID:9003370 Dyslipidemias ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29670124 12385252 NECTIN2 nectin cell adhesion molecule 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23758976 12385252 NECTIN2 nectin cell adhesion molecule 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29855615 12385270 RAB39A RAB39A, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1322661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12385270 RAB39A RAB39A, member RAS oncogene family gene DOID:12704 ataxia telangiectasia ISO RGD:1322661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12385270 RAB39A RAB39A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1322661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385270 RAB39A RAB39A, member RAS oncogene family gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12385276 ANGPTL5 angiopoietin like 5 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1351491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 12385276 ANGPTL5 angiopoietin like 5 gene DOID:1059 intellectual disability ISO RGD:1351491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12385276 ANGPTL5 angiopoietin like 5 gene DOID:12704 ataxia telangiectasia ISO RGD:1351491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12385276 ANGPTL5 angiopoietin like 5 gene DOID:630 genetic disease ISO RGD:1351491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385289 AQP4 aquaporin 4 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1553166 D RGD:9068941 20200609 RGD PMID:20680099|REF_RGD_ID:5148028 12385289 AQP4 aquaporin 4 gene DOID:0060041 autism spectrum disorder ISO RGD:735519 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12385289 AQP4 aquaporin 4 gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:735519 D RGD:9068941 20200609 RGD PMID:20680636|REF_RGD_ID:5148026 12385289 AQP4 aquaporin 4 gene DOID:0080743 transverse myelitis ISO RGD:735519 D RGD:9068941 20200609 RGD PMID:21771203|PMID:23999580|REF_RGD_ID:5148008|REF_RGD_ID:8696028 12385289 AQP4 aquaporin 4 gene DOID:0080855 Parkinsonism severity ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:21255222|REF_RGD_ID:5148006 12385289 AQP4 aquaporin 4 gene DOID:1059 intellectual disability ISO RGD:735519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12385289 AQP4 aquaporin 4 gene DOID:10652 Alzheimer's disease ISO RGD:735519 D RGD:9068941 20200609 RGD PMID:21107133|REF_RGD_ID:5148012 12385289 AQP4 aquaporin 4 gene DOID:10763 hypertension ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:20156423|REF_RGD_ID:5148031 12385289 AQP4 aquaporin 4 gene DOID:10908 hydrocephalus disease_progression ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:21135737|REF_RGD_ID:5148011 12385289 AQP4 aquaporin 4 gene DOID:1210 optic neuritis ISO RGD:735519 D RGD:9068941 20200609 RGD PMID:22157536|REF_RGD_ID:9685553 12385289 AQP4 aquaporin 4 gene DOID:1210 optic neuritis disease_progression ISO RGD:735519 D RGD:9068941 20200609 RGD PMID:23024849|REF_RGD_ID:8696036 12385289 AQP4 aquaporin 4 gene DOID:12236 primary biliary cholangitis ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:20451280|REF_RGD_ID:5148030 12385289 AQP4 aquaporin 4 gene DOID:12365 malaria ISO RGD:10183 D RGD:9068941 20220825 MouseDO OMIM:609148 | OMIM:611162 12385289 AQP4 aquaporin 4 gene DOID:12849 autistic disorder ISO RGD:735519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18435417 12385289 AQP4 aquaporin 4 gene DOID:13141 uveitis ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:20383338|REF_RGD_ID:5148029 12385289 AQP4 aquaporin 4 gene DOID:13141 uveitis ISO RGD:2143 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:21724913|REF_RGD_ID:5490118 12385289 AQP4 aquaporin 4 gene DOID:14069 cerebral malaria disease_progression ISO RGD:10183 D RGD:9068941 20200609 RGD protein:increased expression:astrocyte: PMID:21904632|REF_RGD_ID:8698661 12385289 AQP4 aquaporin 4 gene DOID:1432 blindness ISO RGD:735519 D RGD:9068941 20200609 RGD associated with Multiple Sclerosis, Relapsing-Remitting; PMID:17702782|REF_RGD_ID:8696024 12385289 AQP4 aquaporin 4 gene DOID:1727 retinal vein occlusion ISO RGD:2143 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:21487926|REF_RGD_ID:5490120 12385289 AQP4 aquaporin 4 gene DOID:1824 status epilepticus ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:22361023|REF_RGD_ID:8695999 12385289 AQP4 aquaporin 4 gene DOID:1824 status epilepticus ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:20886625|REF_RGD_ID:5148023 12385289 AQP4 aquaporin 4 gene DOID:1824 status epilepticus ISO RGD:735519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20886625 12385289 AQP4 aquaporin 4 gene DOID:1824 status epilepticus severity ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:22361023|REF_RGD_ID:8695999 12385289 AQP4 aquaporin 4 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:24773551|REF_RGD_ID:13207320 12385289 AQP4 aquaporin 4 gene DOID:2316 brain ischemia ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:19616516|REF_RGD_ID:5490152 12385289 AQP4 aquaporin 4 gene DOID:3275 thymoma ISO RGD:735519 D RGD:9068941 20200609 RGD associated with Myasthenia Gravis PMID:20728226|REF_RGD_ID:5148025 12385289 AQP4 aquaporin 4 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:2143 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:19089902|REF_RGD_ID:5490153 12385289 AQP4 aquaporin 4 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:2143 D RGD:9068941 20200609 RGD protein:increased expression:brainstem PMID:22987392|REF_RGD_ID:8662893 12385289 AQP4 aquaporin 4 gene DOID:3328 temporal lobe epilepsy ISO RGD:735519 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:19864112|REF_RGD_ID:5148036 12385289 AQP4 aquaporin 4 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2143 D RGD:9068941 20221110 RGD PMID:20815926|PMID:33127515|REF_RGD_ID:155646130|REF_RGD_ID:8695955 12385289 AQP4 aquaporin 4 gene DOID:3910 lung adenocarcinoma ISO RGD:735519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12385289 AQP4 aquaporin 4 gene DOID:4724 brain edema ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:21187412|REF_RGD_ID:5148010 12385289 AQP4 aquaporin 4 gene DOID:4724 brain edema ISO RGD:10183 D RGD:9068941 20200609 RGD associated with Drug-Induced Liver Injury;protein:increased expression:cerebral cortex PMID:20938728|REF_RGD_ID:5148020 12385289 AQP4 aquaporin 4 gene DOID:4724 brain edema ISO RGD:2143 D RGD:9068941 20200609 RGD associated with Anoxia PMID:21560328|REF_RGD_ID:5148033 12385289 AQP4 aquaporin 4 gene DOID:4724 brain edema ISO RGD:2143 D RGD:9068941 20200609 RGD associated with Cerebral Hemorrhage PMID:20541575|REF_RGD_ID:5490126 12385289 AQP4 aquaporin 4 gene DOID:4724 brain edema ISO RGD:2143 D RGD:9068941 20200609 RGD associated with Drug-Induced Liver Injury;protein:increased expression:cerebral cortex, astrocyte, plasma membrane PMID:20720509|REF_RGD_ID:5490122 12385289 AQP4 aquaporin 4 gene DOID:4724 brain edema ISO RGD:2143 D RGD:9068941 20200609 RGD associated with Embolism, Fat;protein:increased expression:brain PMID:20111877|REF_RGD_ID:5490129 12385289 AQP4 aquaporin 4 gene DOID:5679 retinal disease ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:18836575|REF_RGD_ID:5490154 12385289 AQP4 aquaporin 4 gene DOID:630 genetic disease ISO RGD:735519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12385289 AQP4 aquaporin 4 gene DOID:636 central pontine myelinolysis ISO RGD:735519 D RGD:9068941 20200609 RGD protein:altered expression:basal part of pons: PMID:24252214|REF_RGD_ID:8696006 12385289 AQP4 aquaporin 4 gene DOID:8869 neuromyelitis optica ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:22271321|PMID:23995423|REF_RGD_ID:8695993|REF_RGD_ID:8696034 12385289 AQP4 aquaporin 4 gene DOID:8869 neuromyelitis optica ISO RGD:735519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18509235|PMID:24070676 12385289 AQP4 aquaporin 4 gene DOID:8869 neuromyelitis optica ISO RGD:735519 D RGD:9068941 20200609 RGD PMID:16087714|PMID:20047900|PMID:23890015|REF_RGD_ID:5148024|REF_RGD_ID:5148032|REF_RGD_ID:8696026 12385289 AQP4 aquaporin 4 gene DOID:8869 neuromyelitis optica ISO RGD:735519 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-1003A>G(human) PMID:23116879|REF_RGD_ID:8696032 12385289 AQP4 aquaporin 4 gene DOID:8869 neuromyelitis optica disease_progression ISO RGD:735519 D RGD:9068941 20200609 RGD associated withHiccup; PMID:18420727|REF_RGD_ID:8696033 12385289 AQP4 aquaporin 4 gene DOID:8947 diabetic retinopathy ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:22449442|REF_RGD_ID:8695996 12385289 AQP4 aquaporin 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:20517941|PMID:21280976|REF_RGD_ID:5148027|REF_RGD_ID:5148035 12385289 AQP4 aquaporin 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:21092735|REF_RGD_ID:5148013 12385289 AQP4 aquaporin 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:735519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21092735 12385289 AQP4 aquaporin 4 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:10183 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:15695511|REF_RGD_ID:8698660 12385289 AQP4 aquaporin 4 gene DOID:9000113 Pneumococcal Meningitis treatment ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:15695511|REF_RGD_ID:8698660 12385289 AQP4 aquaporin 4 gene DOID:9000307 Presbycusis severity ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:19070604|REF_RGD_ID:8695953 12385289 AQP4 aquaporin 4 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:2143 D RGD:9068941 20220121 RGD mRNA:increased expression:brain: PMID:33574749|REF_RGD_ID:127284879 12385289 AQP4 aquaporin 4 gene DOID:9000438 Subarachnoid Hemorrhage exacerbates ISO RGD:2143 D RGD:9068941 20220121 RGD PMID:33574749|REF_RGD_ID:127284879 12385289 AQP4 aquaporin 4 gene DOID:9000998 Brain Injuries ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:21488209|REF_RGD_ID:5148034 12385289 AQP4 aquaporin 4 gene DOID:9000998 Brain Injuries ISO RGD:2143 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:21083433|REF_RGD_ID:5148014 12385289 AQP4 aquaporin 4 gene DOID:9002211 Hyperalgesia ISO RGD:2143 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries;mRNA,protein:increased expression:brain,spinal cord: PMID:16219025|REF_RGD_ID:8695957 12385289 AQP4 aquaporin 4 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:25545558|REF_RGD_ID:11541062 12385289 AQP4 aquaporin 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:23707078|REF_RGD_ID:8696030 12385289 AQP4 aquaporin 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:21056916|REF_RGD_ID:5148015 12385289 AQP4 aquaporin 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:21157915|REF_RGD_ID:5490117 12385289 AQP4 aquaporin 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis severity ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:19660138|REF_RGD_ID:5490116 12385289 AQP4 aquaporin 4 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:17454447|REF_RGD_ID:8698664 12385289 AQP4 aquaporin 4 gene DOID:9004009 Reperfusion Injury ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:19806476|PMID:20924629|REF_RGD_ID:5148022|REF_RGD_ID:5148037 12385289 AQP4 aquaporin 4 gene DOID:9004009 Reperfusion Injury ISO RGD:2143 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:parietal cortex PMID:21718723|REF_RGD_ID:5684013 12385289 AQP4 aquaporin 4 gene DOID:9004009 Reperfusion Injury ISO RGD:2143 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:20979759|REF_RGD_ID:5148016 12385289 AQP4 aquaporin 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2143 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:retina: PMID:22449442|REF_RGD_ID:8695996 12385289 AQP4 aquaporin 4 gene DOID:9005754 Hypoalgesia ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:20851747|REF_RGD_ID:8696005 12385289 AQP4 aquaporin 4 gene DOID:9006089 Opticospinal Multiple Sclerosis ISO RGD:735519 D RGD:9068941 20200609 RGD PMID:17468440|REF_RGD_ID:8698645 12385289 AQP4 aquaporin 4 gene DOID:9006205 Animal Disease Models ISO RGD:735519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12385289 AQP4 aquaporin 4 gene DOID:9008091 Optic Nerve Injuries ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:20216911|REF_RGD_ID:2326035 12385289 AQP4 aquaporin 4 gene DOID:9008681 Deafness ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:11406631|REF_RGD_ID:734598 12385289 AQP4 aquaporin 4 gene DOID:9246 cerebral amyloid angiopathy ISO RGD:735519 D RGD:9068941 20200609 RGD PMID:21107133|REF_RGD_ID:5148012 12385289 AQP4 aquaporin 4 gene DOID:9282 ocular hypertension ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:22943863|REF_RGD_ID:8698651 12385289 AQP4 aquaporin 4 gene DOID:9351 diabetes mellitus ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:19748503|REF_RGD_ID:2316076 12385289 AQP4 aquaporin 4 gene DOID:9849 Meniere's disease ISO RGD:735519 D RGD:9068941 20200609 RGD protein:decreased expression:macula of utricle of membranous labyrinth: PMID:20461409|REF_RGD_ID:8696022 12385289 AQP4 aquaporin 4 gene DOID:9849 Meniere's disease susceptibility ISO RGD:735519 D RGD:9068941 20200609 RGD DNA:conservative mutation:cds:c.105G>C(human) PMID:21063116|REF_RGD_ID:8696023 12385302 DEFB135 defensin beta 135 gene DOID:14004 thoracic aortic aneurysm ISO RGD:2307454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:32748548 12385302 DEFB135 defensin beta 135 gene DOID:630 genetic disease ISO RGD:2307454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385302 DEFB135 defensin beta 135 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2307454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12385304 TMEM202 transmembrane protein 202 gene DOID:0110225 Brugada syndrome 8 ISO RGD:2289768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 12385304 TMEM202 transmembrane protein 202 gene DOID:2717 Bloom syndrome ISO RGD:2289768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12385304 TMEM202 transmembrane protein 202 gene DOID:3320 Tay-Sachs disease ISO RGD:2289768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 12385304 TMEM202 transmembrane protein 202 gene DOID:630 genetic disease ISO RGD:2289768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385304 TMEM202 transmembrane protein 202 gene DOID:9256 colorectal cancer ISO RGD:2289768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12385349 MIR22 microRNA mir-22 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1345864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26244872 12385349 MIR22 microRNA mir-22 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:1608348 D RGD:9068941 20200609 RGD PMID:32195457|REF_RGD_ID:25330354 12385349 MIR22 microRNA mir-22 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:1608348 D RGD:9068941 20200609 RGD PMID:32195457|REF_RGD_ID:25330354 12385349 MIR22 microRNA mir-22 gene DOID:12858 Huntington's disease ISO RGD:1608348 D RGD:9068941 20200609 RGD down-regulated PMID:21035445|REF_RGD_ID:11041745 12385349 MIR22 microRNA mir-22 gene DOID:14330 Parkinson's disease ISO RGD:1345864 D RGD:9068941 20200609 RGD PMID:21295623|REF_RGD_ID:10755488 12385349 MIR22 microRNA mir-22 gene DOID:2044 drug-induced hepatitis ISO RGD:1608348 D RGD:9068941 20200609 RGD in male; RNA:increased expression:liver: PMID:21750200|REF_RGD_ID:14700876 12385349 MIR22 microRNA mir-22 gene DOID:219 colon cancer disease_progression ISO RGD:1345864 D RGD:9068941 20220825 RGD human cells in mouse model;RNA:increased expression:colon,exosome (human) PMID:28211508|REF_RGD_ID:153344546 12385349 MIR22 microRNA mir-22 gene DOID:4989 pancreatitis ISO RGD:1345864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12385349 MIR22 microRNA mir-22 gene DOID:684 hepatocellular carcinoma ISO RGD:1345864 D RGD:9068941 20200609 RGD in male; RNA:increased expression:liver: PMID:21750200|REF_RGD_ID:14700876 12385349 MIR22 microRNA mir-22 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1345864 D RGD:9068941 20200609 RGD PMID:27811373|REF_RGD_ID:14700875 12385349 MIR22 microRNA mir-22 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1345864 D RGD:9068941 20200609 RGD PMID:23766411|REF_RGD_ID:14700874 12385349 MIR22 microRNA mir-22 gene DOID:9005372 Inflammation ISO RGD:1345864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28161397 12385349 MIR22 microRNA mir-22 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25359176|PMID:28545106 12385349 MIR22 microRNA mir-22 gene DOID:9452 fatty liver disease ISO RGD:1608348 D RGD:9068941 20200609 RGD PMID:32195457|REF_RGD_ID:25330354 12385349 MIR22 microRNA mir-22 gene DOID:9452 fatty liver disease severity ISO RGD:1345864 D RGD:9068941 20200609 RGD PMID:32195457|REF_RGD_ID:25330354 12385383 ZSCAN18 zinc finger and SCAN domain containing 18 gene DOID:630 genetic disease ISO RGD:1343704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385444 NPY1R neuropeptide Y receptor Y1 gene DOID:0050830 peripheral artery disease ISO RGD:1347163 D RGD:9068941 20200609 RGD PMID:21468772|REF_RGD_ID:10448273 12385444 NPY1R neuropeptide Y receptor Y1 gene DOID:0080074 neural tube defect ISO RGD:1347163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17400914 12385444 NPY1R neuropeptide Y receptor Y1 gene DOID:10763 hypertension ISO RGD:3198 D RGD:9068941 20200609 RGD PMID:15699473|REF_RGD_ID:1357410 12385444 NPY1R neuropeptide Y receptor Y1 gene DOID:11832 visual epilepsy ISO RGD:3198 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:10521595|REF_RGD_ID:1642320 12385444 NPY1R neuropeptide Y receptor Y1 gene DOID:1596 depressive disorder ISO RGD:1347163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9729278 12385444 NPY1R neuropeptide Y receptor Y1 gene DOID:1596 depressive disorder ISO RGD:3198 D RGD:9068941 20200609 RGD PMID:17265460|REF_RGD_ID:1642308 12385444 NPY1R neuropeptide Y receptor Y1 gene DOID:1596 depressive disorder treatment ISO RGD:3198 D RGD:9068941 20200609 RGD PMID:19623606|PMID:21803058|REF_RGD_ID:10448284|REF_RGD_ID:10448937 12385444 NPY1R neuropeptide Y receptor Y1 gene DOID:1825 childhood absence epilepsy treatment ISO RGD:3198 D RGD:9068941 20200609 RGD PMID:17331209|REF_RGD_ID:10448963 12385444 NPY1R neuropeptide Y receptor Y1 gene DOID:1936 atherosclerosis ISO RGD:737212 D RGD:9068941 20200609 RGD PMID:21468772|REF_RGD_ID:10448273 12385444 NPY1R neuropeptide Y receptor Y1 gene DOID:2030 anxiety disorder ISO RGD:1347163 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11440811 12385444 NPY1R neuropeptide Y receptor Y1 gene DOID:2030 anxiety disorder treatment ISO RGD:3198 D RGD:9068941 20200609 RGD PMID:21803058|REF_RGD_ID:10448284 12385444 NPY1R neuropeptide Y receptor Y1 gene DOID:3328 temporal lobe epilepsy ISO RGD:1347163 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:15337376|REF_RGD_ID:1642609 12385444 NPY1R neuropeptide Y receptor Y1 gene DOID:630 genetic disease ISO RGD:1347163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385444 NPY1R neuropeptide Y receptor Y1 gene DOID:670 amphetamine abuse ISO RGD:1347163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19566775 12385444 NPY1R neuropeptide Y receptor Y1 gene DOID:8646 substance-induced psychosis ISO RGD:1347163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19566775 12385444 NPY1R neuropeptide Y receptor Y1 gene DOID:9001109 Anorexia ISO RGD:3198 D RGD:9068941 20200609 RGD associated with Neoplasms;mRNA, protein:decreased expression:hypothalamus PMID:17234300|REF_RGD_ID:10448965 12385444 NPY1R neuropeptide Y receptor Y1 gene DOID:9002498 Wallerian Degeneration ISO RGD:3198 D RGD:9068941 20200609 RGD PMID:10320723|REF_RGD_ID:1642322 12385444 NPY1R neuropeptide Y receptor Y1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3198 D RGD:9068941 20200609 RGD PMID:18201831|REF_RGD_ID:10448967 12385444 NPY1R neuropeptide Y receptor Y1 gene DOID:9007096 Stroke ISO RGD:3198 D RGD:9068941 20200609 RGD PMID:10891620|REF_RGD_ID:1642319 12385444 NPY1R neuropeptide Y receptor Y1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3198 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle PMID:17562528|REF_RGD_ID:1642307 12385444 NPY1R neuropeptide Y receptor Y1 gene DOID:9007993 Dehydration ISO RGD:3198 D RGD:9068941 20200609 RGD protein:increased expression:hypothalamus PMID:16728491|REF_RGD_ID:1642311 12385444 NPY1R neuropeptide Y receptor Y1 gene DOID:9008251 Toothache ISO RGD:1347163 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18809749 12385444 NPY1R neuropeptide Y receptor Y1 gene DOID:9970 obesity ISO RGD:1347163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20975297 12385444 NPY1R neuropeptide Y receptor Y1 gene DOID:9970 obesity ISO RGD:3198 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus PMID:17447163|REF_RGD_ID:10448938 12385444 NPY1R neuropeptide Y receptor Y1 gene DOID:9970 obesity ISO RGD:737212 D RGD:9068941 20220825 MouseDO OMIM:601665 12385444 NPY1R neuropeptide Y receptor Y1 gene DOID:9970 obesity susceptibility ISO RGD:737212 D RGD:9068941 20200609 RGD associated with Hyperinsulinemia PMID:9861026|REF_RGD_ID:1642306 12385465 ADSL adenylosuccinate lyase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316916 D RGD:7240710 20180130 OMIM 12385465 ADSL adenylosuccinate lyase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:10090474|PMID:10888601|PMID:10958654|PMID:12016589|PMID:12070256|PMID:12368987|PMID:12833398|PMID:1302001|PMID:1405483|PMID:15571235|PMID:15571240|PMID:16199547|PMID:16403972|PMID:16839792|PMID:17188615|PMID:17576681|PMID:18524658|PMID:18830228|PMID:19405474|PMID:20049533|PMID:20127976|PMID:20175147|PMID:20177786|PMID:20884265|PMID:20933180|PMID:21210713|PMID:22180458|PMID:22812634|PMID:23055421|PMID:23504561|PMID:23714113|PMID:23937257|PMID:24033266|PMID:24781210|PMID:25112391|PMID:25326635|PMID:25741868|PMID:26467025|PMID:27504266|PMID:28487569|PMID:28492532|PMID:28559277|PMID:29302074|PMID:29314763|PMID:29655203|PMID:30185235|PMID:30609409|PMID:31164858|PMID:31467849|PMID:3234432|PMID:32681428|PMID:33648541|PMID:6150139|PMID:7334371|PMID:8598641|PMID:9165520|PMID:9197470|PMID:9266401|PMID:9536098|PMID:9545543 12385465 ADSL adenylosuccinate lyase gene DOID:0060041 autism spectrum disorder ISO RGD:1316916 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12385465 ADSL adenylosuccinate lyase gene DOID:10283 prostate cancer severity ISO RGD:1316916 D RGD:9068941 20200609 RGD protein:increased activity:tumor (human) PMID:3690833|REF_RGD_ID:1598760 12385465 ADSL adenylosuccinate lyase gene DOID:1059 intellectual disability ISO RGD:1316916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12385465 ADSL adenylosuccinate lyase gene DOID:12849 autistic disorder ISO RGD:1316916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15471876 12385465 ADSL adenylosuccinate lyase gene DOID:1612 breast cancer ISO RGD:1307617 D RGD:9068941 20200609 RGD protein:increased activity:tumor (rat) PMID:2937404|REF_RGD_ID:1598766 12385465 ADSL adenylosuccinate lyase gene DOID:1612 breast cancer severity ISO RGD:1316916 D RGD:9068941 20200609 RGD protein:increased activity:tumor (human) PMID:3690833|REF_RGD_ID:1598760 12385465 ADSL adenylosuccinate lyase gene DOID:630 genetic disease ISO RGD:1316916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10090474|PMID:10888601|PMID:10958654|PMID:12016589|PMID:12833398|PMID:16839792|PMID:17188615|PMID:18524658|PMID:20127976|PMID:20175147|PMID:20933180|PMID:22180458|PMID:23504561|PMID:23714113|PMID:23937257|PMID:24033266|PMID:24781210|PMID:25112391|PMID:25741868|PMID:26467025|PMID:27504266|PMID:28487569|PMID:28492532|PMID:28559277|PMID:29655203|PMID:30185235|PMID:30609409|PMID:31164858|PMID:31467849|PMID:33648541|PMID:7334371|PMID:9266401 12385465 ADSL adenylosuccinate lyase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1307617 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:2937404|REF_RGD_ID:1598766 12385465 ADSL adenylosuccinate lyase gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1316916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized myoclonic seizures PMID:10090474|PMID:10888601|PMID:10958654|PMID:17188615|PMID:18524658|PMID:20127976|PMID:22180458|PMID:25741868|PMID:28492532|PMID:31467849 12385465 ADSL adenylosuccinate lyase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307617 D RGD:9068941 20200609 RGD protein:increased activity:heart (rat) PMID:3360219|REF_RGD_ID:1598762 12385482 STAU1 staufen double-stranded RNA binding protein 1 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:734025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 PMID:28492532 12385482 STAU1 staufen double-stranded RNA binding protein 1 gene DOID:1936 atherosclerosis ISO RGD:734025 D RGD:9068941 20230128 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) PMID:33381146|REF_RGD_ID:155882464 12385482 STAU1 staufen double-stranded RNA binding protein 1 gene DOID:450 myotonic disease ISO RGD:734025 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:27030674 12385482 STAU1 staufen double-stranded RNA binding protein 1 gene DOID:630 genetic disease ISO RGD:734025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:0050328 congenital hypothyroidism ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebellum (rat) PMID:20515651|REF_RGD_ID:10059677 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:0050700 cardiomyopathy ISO RGD:1332548 D RGD:9068941 20220825 MouseDO 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:0050855 renal fibrosis ISO RGD:620925 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction; mRNA:decreased expression:kidney (rat) PMID:21784897|REF_RGD_ID:7242027 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:0060180 colitis ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:22126533|REF_RGD_ID:6484264 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:increased expression:gastrocnemius muscle (rat) PMID:23320128|REF_RGD_ID:7241841 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:21373642|REF_RGD_ID:6484527 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:1342674 D RGD:9068941 20200609 RGD associated with Obesity; DNA:missense mutation:cds:p.G482S rs8192678 (human) PMID:23269818|REF_RGD_ID:7241847 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:0080855 Parkinsonism ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:21376232|PMID:22040668|PMID:22246294|REF_RGD_ID:6484262|REF_RGD_ID:6484267|REF_RGD_ID:6484271 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:1342674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:10376 amblyopia ISO RGD:620925 D RGD:9068941 20200609 RGD protein:decreased expression:visual cortex (rat) PMID:20438809|REF_RGD_ID:10059668 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:10603 glucose intolerance ISO RGD:1332548 D RGD:9068941 20200609 RGD mRNA:decreased expression:quadriceps muscle (mouse) PMID:19158402|REF_RGD_ID:7242049 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:10652 Alzheimer's disease ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:22540007|REF_RGD_ID:6484260 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:10652 Alzheimer's disease ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:22510382|REF_RGD_ID:7242180 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:1342674 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:hippocampal formation (human) PMID:19273754|REF_RGD_ID:7242017 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:1074 kidney failure ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:22076434|REF_RGD_ID:7242044 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:10871 age related macular degeneration ISO RGD:1332548 D RGD:9068941 20220825 MouseDO 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:114 heart disease ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:23533487|REF_RGD_ID:7242188 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:11446 sciatic neuropathy ISO RGD:620925 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22996345|REF_RGD_ID:7242051 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:11716 prediabetes syndrome ISO RGD:620925 D RGD:9068941 20200609 RGD protein:decreased expression:testis (rat) PMID:24361842|REF_RGD_ID:9586046 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:1184 nephrotic syndrome ISO RGD:620925 D RGD:9068941 20200609 RGD protein:decreased expression:kidney cortex (rat) PMID:22874759|REF_RGD_ID:7242024 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:12217 Lewy body dementia ISO RGD:1342674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:12236 primary biliary cholangitis ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:21651979|REF_RGD_ID:6484269 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease ISO RGD:1332548 D RGD:9068941 20200609 RGD mRNA:decreased expression:medium spiny neuron (mouse) PMID:17018277|REF_RGD_ID:7242018 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (human) PMID:22589246|REF_RGD_ID:6484259 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease ISO RGD:1342674 D RGD:9068941 20200609 RGD mRNA:decreased expression:caudate nucleus (human) PMID:17018277|REF_RGD_ID:7242018 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease ISO RGD:620925 D RGD:9068941 20200609 RGD protein:increased expression:subthalamic nucleus (rat) PMID:22813864|REF_RGD_ID:10395291 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease no_association ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:pT612M (rs3736265) (human) PMID:19133136|REF_RGD_ID:10053656 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease onset ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:pT612M (rs3736265) (human) PMID:24383721|REF_RGD_ID:10053663 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease onset ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS2-19637A>G (rs7665116) (human) PMID:21595933|REF_RGD_ID:6770890 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease onset ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-1437T>C (rs2970870) (human) PMID:21211002|REF_RGD_ID:10395290 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease onset ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:snps, haplotypes:multiple (human) PMID:19133136|REF_RGD_ID:10053656 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease severity ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:17018277|REF_RGD_ID:7242018 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease severity ISO RGD:1342674 D RGD:9068941 20200609 RGD protein:increased expression:brain (human) PMID:21757867|REF_RGD_ID:10395289 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease treatment ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:20736066|REF_RGD_ID:10053648 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease treatment ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:21493629|REF_RGD_ID:10053650 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:snps:cds, 3' utr:p.T612M, *2380G>A (rs3736265, rs3774923) (human) PMID:18162502|REF_RGD_ID:7242032 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:12930 dilated cardiomyopathy treatment ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:19242323|REF_RGD_ID:2311057 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:12934 Kearns-Sayre syndrome ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:23406886|REF_RGD_ID:7241824 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:14330 Parkinson's disease ISO RGD:1332548 D RGD:9068941 20220825 MouseDO 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:14330 Parkinson's disease ISO RGD:1342674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:14330 Parkinson's disease ISO RGD:1342674 D RGD:9068941 20200609 RGD PMID:21376232|REF_RGD_ID:6484271 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:14330 Parkinson's disease onset ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:SNPs:intron, 3' utr: (rs2970848, rs6821591) (human) PMID:21595954|REF_RGD_ID:6484270 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:1907 malignant fibrous histiocytoma treatment ISO RGD:1342674 D RGD:9068941 20200609 RGD human cell line in mouse model PMID:23166610|REF_RGD_ID:7242013 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:1909 melanoma severity ISO RGD:1342674 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor (human) PMID:23416000|REF_RGD_ID:7241823 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:263 kidney cancer ISO RGD:1342674 D RGD:9068941 20200609 RGD associated with Birt-Hogg-Dube Syndrome; mRNA:increased expression:kidney (human) PMID:23150719|REF_RGD_ID:7242016 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1342674 D RGD:9068941 20200609 RGD PMID:20732852|REF_RGD_ID:6484530 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1332548 D RGD:9068941 20200609 RGD mRNA:decreased expression:spinal cord, gastrocnemius muscle (mouse) PMID:23147503|REF_RGD_ID:7242019 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1342674 D RGD:9068941 20200609 RGD human gene in mouse model PMID:22102466|REF_RGD_ID:6484265 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1342674 D RGD:9068941 20200609 RGD mRNA:decreased expression:motor cortex, muscle (human) PMID:23147503|REF_RGD_ID:7242019 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1342674 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:22975021 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:3891 placental insufficiency ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:gastrocnemius muscle (rat) PMID:18319353|REF_RGD_ID:10059693 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:4195 hyperglycemia ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:22922125|REF_RGD_ID:7242061 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:4195 hyperglycemia ISO RGD:620925 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:heart left ventricle, myocardium (rat) PMID:19367030|REF_RGD_ID:10059674 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:4195 hyperglycemia treatment ISO RGD:1332548 D RGD:9068941 20200609 RGD associated with Obesity PMID:23499865|REF_RGD_ID:7241854 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:4448 macular degeneration ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:snps:exon, 3' utr:g.76874A>G, g.*2381A>G (rs3736265, rs3774923) (human) PMID:23335958|REF_RGD_ID:7241840 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:5419 schizophrenia ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:23348010|REF_RGD_ID:7241837 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:5844 myocardial infarction ISO RGD:1342674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22503866 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:5844 myocardial infarction ISO RGD:1342674 D RGD:9068941 20200609 RGD PMID:22087236|REF_RGD_ID:6484266 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:5844 myocardial infarction ISO RGD:620925 D RGD:9068941 20200609 RGD protein:decreased expression:heart (rat) PMID:22503866|REF_RGD_ID:7242181 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:6000 congestive heart failure ISO RGD:1332548 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart (mouse) PMID:23297372|REF_RGD_ID:7241843 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:6000 congestive heart failure ISO RGD:1332548 D RGD:9068941 20220825 MouseDO 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:6000 congestive heart failure ISO RGD:1342674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19808358|PMID:22503866 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:6000 congestive heart failure onset ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:23342071|REF_RGD_ID:7241838 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:630 genetic disease ISO RGD:1342674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:784 chronic kidney disease ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:22648295|REF_RGD_ID:7242023 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:7998 hyperthyroidism ISO RGD:620925 D RGD:9068941 20200609 RGD protein:increased expression:soleus muscle (rat) PMID:18669938|REF_RGD_ID:10059691 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:8947 diabetic retinopathy ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:20566666|REF_RGD_ID:6484532 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:8947 diabetic retinopathy ISO RGD:620925 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA:increased expression:retina (rat) PMID:22003111|REF_RGD_ID:5686899 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9000039 Spinal Cord Injuries ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:22208735|REF_RGD_ID:6484263 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9000669 Ventricular Dysfunction, Right treatment ISO RGD:620925 D RGD:9068941 20220916 RGD PMID:22523357|REF_RGD_ID:155226858 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9000887 Muscular Dystrophy, Animal ISO RGD:1342674 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22795790 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9000998 Brain Injuries ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:22642418|REF_RGD_ID:6484257 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9000998 Brain Injuries treatment ISO RGD:620925 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex (rat) PMID:24345766|REF_RGD_ID:10059630 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9001542 Albuminuria ISO RGD:1342674 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:snp:cds:g.75919G>A rs8192678 (human) PMID:22684233|REF_RGD_ID:7242025 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9002165 Diabetic Nephropathies ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.G482S (human) PMID:19900151|REF_RGD_ID:7242045 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9002165 Diabetic Nephropathies ISO RGD:1342674 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney (human) PMID:21784897|REF_RGD_ID:7242027 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9002231 Fetal Growth Retardation ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (rat) PMID:18433551|REF_RGD_ID:10059649 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9002399 Takotsubo Cardiomyopathy ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium (rat) PMID:23271280|REF_RGD_ID:7241846 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9003936 Cardiomegaly ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:14726475|REF_RGD_ID:10053662 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9003936 Cardiomegaly ISO RGD:620925 D RGD:9068941 20200609 RGD protein:increased expression:myocardium of left ventricle (rat) PMID:22105890|REF_RGD_ID:7242192 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9004484 Sepsis ISO RGD:1332548 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:20647557|REF_RGD_ID:6484531 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9004484 Sepsis ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:20647557|REF_RGD_ID:6484531 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9004576 Sleep Initiation and Maintenance Disorders ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.G482S (rs8192678) (human) PMID:22392034|REF_RGD_ID:6484261 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1332548 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (mouse) PMID:18802029|REF_RGD_ID:7297042 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1332548 D RGD:9068941 20200609 RGD protein:decreased expression:dorsal root ganglia (mouse) PMID:22561641|REF_RGD_ID:7242175 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1342674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563825 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet PMID:18270681|REF_RGD_ID:2311391 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:19520786|PMID:23272147|REF_RGD_ID:2311445|REF_RGD_ID:7241845 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:620925 D RGD:9068941 20200609 RGD protein:decreased expression:heart right ventricle (rat) PMID:23152488|REF_RGD_ID:7242015 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9006182 Carotid Artery Injuries ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:22892143|REF_RGD_ID:7242065 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:1332548 D RGD:9068941 20200609 RGD mouse gene in a rat model PMID:19553562|REF_RGD_ID:2311405 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:24918615|REF_RGD_ID:10059636 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9006646 Metabolic Syndrome ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:decreased expression:gastrocnemius muscle (rat) PMID:20383225|REF_RGD_ID:10059661 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9007170 Bowen's Disease ISO RGD:1342674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21514422 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9007692 Insulin Resistance ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G482S rs8192678 (human) PMID:23449621|REF_RGD_ID:7241821 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9007692 Insulin Resistance ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:22658649|REF_RGD_ID:7242170 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9007801 Diseases of the Aged ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:24336883|REF_RGD_ID:10401813 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:19096023|REF_RGD_ID:10059669 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9008824 Sarcopenia ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:altered expression:gastrocnemius muscle (rat) PMID:16870628|REF_RGD_ID:10053649 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:1332548 D RGD:9068941 20200609 RGD protein:decreased expression:dorsal root ganglia (mouse) PMID:22561641|REF_RGD_ID:7242175 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:1342674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15592662|PMID:17317762 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter:g.-383 (human) PMID:23251491|REF_RGD_ID:7241849 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.G482S (human) PMID:18270681|REF_RGD_ID:2311391 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:1342674 D RGD:9068941 20200609 RGD protein:decreased expression:vastus lateralis (human) PMID:23210442|REF_RGD_ID:7242009 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:decreased expression:soleus muscle:type I muscle fiber (rat) PMID:17158179|REF_RGD_ID:10059689 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.G482S (human, Pima Indians) PMID:12606537|REF_RGD_ID:7242043 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:snps:intron:IVS3+52T>G, IVS3+21963A>G (rs2946385, rs4235308) (human) PMID:18162502|REF_RGD_ID:7242032 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:23250358|REF_RGD_ID:7241851 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:22824914|REF_RGD_ID:7242067 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9452 fatty liver disease ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:23174781|REF_RGD_ID:7242012 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9452 fatty liver disease ISO RGD:620925 D RGD:9068941 20200609 RGD protein:decreased methylation:liver (rat) PMID:22521344|REF_RGD_ID:7242179 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9452 fatty liver disease treatment ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:23274094|REF_RGD_ID:7241844 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9675 pulmonary emphysema ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:23144332|REF_RGD_ID:7242020 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:1332548 D RGD:9068941 20200609 RGD mRNA:altered expression:heart, brain, mitochondrion (mouse) PMID:19542201|REF_RGD_ID:7242046 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9970 obesity ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:increased expression:retroperitoneal fat pad (rat) PMID:22401878|REF_RGD_ID:7242183 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9970 obesity treatment ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:23180161|REF_RGD_ID:7242011 12385531 PPARGC1A PPARG coactivator 1 alpha gene DOID:9970 obesity treatment ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:23256146|REF_RGD_ID:7241848 12385531 Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha gene DOID:3021 acute kidney failure ISO RGD:1332548 D RGD:9068941 20200609 RGD associated with Endotoxemia; mRNA:decreased expression:kidney (mouse) PMID:21881206|REF_RGD_ID:7242026 12385563 SMYD2 SET and MYND domain containing 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1354091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12385563 SMYD2 SET and MYND domain containing 2 gene DOID:630 genetic disease ISO RGD:1354091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385563 SMYD2 SET and MYND domain containing 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1354091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25825497 12385563 SMYD2 SET and MYND domain containing 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12385585 NEDD8 NEDD8 ubiquitin like modifier gene DOID:0060439 lysinuric protein intolerance ISO RGD:735521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12385585 NEDD8 NEDD8 ubiquitin like modifier gene DOID:14330 Parkinson's disease ISO RGD:735521 D RGD:9068941 20200609 RGD PMID:12533840|REF_RGD_ID:1549458 12385585 NEDD8 NEDD8 ubiquitin like modifier gene DOID:3069 malignant astrocytoma ISO RGD:735521 D RGD:9068941 20200609 RGD PMID:12533840|REF_RGD_ID:1549458 12385585 NEDD8 NEDD8 ubiquitin like modifier gene DOID:9000265 Specific Granule Deficiency ISO RGD:735521 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12385585 NEDD8 NEDD8 ubiquitin like modifier gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:735521 D RGD:9068941 20200609 RGD PMID:12533840|REF_RGD_ID:1549458 12385585 NEDD8 NEDD8 ubiquitin like modifier gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:735521 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12385593 EZH1 enhancer of zeste 1 polycomb repressive complex 2 subunit gene DOID:630 genetic disease ISO RGD:1312813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385618 ANLN anillin, actin binding protein gene DOID:0080600 COVID-19 ISO RGD:1320339 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12385618 ANLN anillin, actin binding protein gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1320339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:28492532 12385618 ANLN anillin, actin binding protein gene DOID:0111133 focal segmental glomerulosclerosis 8 ISO RGD:1320339 D RGD:7240710 20180130 OMIM 12385618 ANLN anillin, actin binding protein gene DOID:0111133 focal segmental glomerulosclerosis 8 ISO RGD:1320339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8 PMID:24676636|PMID:25741868|PMID:28492532|PMID:29869118 12385618 ANLN anillin, actin binding protein gene DOID:11612 polycystic ovary syndrome ISO RGD:1320339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12385618 ANLN anillin, actin binding protein gene DOID:1184 nephrotic syndrome ISO RGD:1320339 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:28492532 12385618 ANLN anillin, actin binding protein gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1320339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12385618 ANLN anillin, actin binding protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12385618 ANLN anillin, actin binding protein gene DOID:630 genetic disease ISO RGD:1320339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12385618 ANLN anillin, actin binding protein gene DOID:684 hepatocellular carcinoma ISO RGD:1320339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12385618 ANLN anillin, actin binding protein gene DOID:784 chronic kidney disease ISO RGD:1320339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 12385652 FRMD8 FERM domain containing 8 gene DOID:1059 intellectual disability ISO RGD:1602672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12385652 FRMD8 FERM domain containing 8 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602672 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12385652 FRMD8 FERM domain containing 8 gene DOID:2746 glycogen storage disease V ISO RGD:1602672 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12385652 FRMD8 FERM domain containing 8 gene DOID:3070 high grade glioma ISO RGD:1602672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12385652 FRMD8 FERM domain containing 8 gene DOID:630 genetic disease ISO RGD:1602672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385652 FRMD8 FERM domain containing 8 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1602672 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12385652 FRMD8 FERM domain containing 8 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1602672 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12385668 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1319306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:20177705|PMID:20498079|PMID:25741868|PMID:28492532 12385668 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:0110126 Bardet-Biedl syndrome 4 ISO RGD:1319306 D RGD:7240710 20211215 OMIM 12385668 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:0110126 Bardet-Biedl syndrome 4 ISO RGD:1319306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 4 PMID:11381270|PMID:12016587|PMID:12524598|PMID:12872256|PMID:15654695|PMID:15666242|PMID:16199547|PMID:17576681|PMID:19858128|PMID:20177705|PMID:20498079|PMID:21344540|PMID:22353939|PMID:25741868|PMID:26518167|PMID:27208204|PMID:27486776|PMID:27894351|PMID:28492532|PMID:29039417|PMID:31980526|PMID:388431|PMID:7711739|PMID:9536098 12385668 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:0110225 Brugada syndrome 8 ISO RGD:1319306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 12385668 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1319306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11381270|PMID:12016587|PMID:20177705|PMID:25741868|PMID:27894351|PMID:28492532|PMID:32531858 12385668 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:1059 intellectual disability ISO RGD:1319306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12385668 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:11981 morbid obesity susceptibility ISO RGD:1319306 D RGD:9068941 20211217 RGD DNA:SNPs PMID:17003356|REF_RGD_ID:1601311 12385668 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11381270|PMID:12016587|PMID:12524598|PMID:12872256|PMID:15654695|PMID:15666242|PMID:15770229|PMID:16199547|PMID:17558852|PMID:17576681|PMID:19402160|PMID:19858128|PMID:20177705|PMID:20498079|PMID:21344540|PMID:22353939|PMID:23591405|PMID:24849935|PMID:25741868|PMID:27208204|PMID:27486776|PMID:27894351|PMID:28492532|PMID:30614526|PMID:30718709|PMID:31980526|PMID:32531858|PMID:388431|PMID:7711739|PMID:9536098 12385668 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:2717 Bloom syndrome ISO RGD:1319306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12385668 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:3320 Tay-Sachs disease ISO RGD:1319306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 12385668 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:5419 schizophrenia ISO RGD:1319306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12385668 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1319306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12385668 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:8466 retinal degeneration severity ISO RGD:1323204 D RGD:9068941 20211217 RGD PMID:23943788|REF_RGD_ID:11537379 12385668 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:8501 fundus dystrophy ISO RGD:1319306 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11381270|PMID:12016587|PMID:16199547|PMID:17576681|PMID:20177705|PMID:27208204|PMID:27894351|PMID:28492532|PMID:9536098 12385668 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:9256 colorectal cancer ISO RGD:1319306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12385668 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:9970 obesity ISO RGD:1319307 D RGD:9068941 20220825 MouseDO OMIM:601665 12385668 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:9970 obesity onset ISO RGD:1319306 D RGD:9068941 20211217 RGD DNA:SNPs PMID:17003356|REF_RGD_ID:1601311 12385668 BBS4 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:0110126 Bardet-Biedl syndrome 4 IAGP D RGD:12801476 20210603 OMIA Bardet-Biedl syndrome 4 PMID:28378943|PMID:28533336 12385688 RANBP10 RAN binding protein 10 gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1343804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 12385688 RANBP10 RAN binding protein 10 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1343804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12385688 RANBP10 RAN binding protein 10 gene DOID:630 genetic disease ISO RGD:1343804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385688 RANBP10 RAN binding protein 10 gene DOID:9000217 Stomach Neoplasms ISO RGD:1343804 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12385688 RANBP10 RAN binding protein 10 gene DOID:9000918 Disease Progression ISO RGD:1343804 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12385688 RANBP10 RAN binding protein 10 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1343804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12385706 KRT32 keratin 32 gene DOID:4450 renal cell carcinoma ISO RGD:1313247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 12385706 KRT32 keratin 32 gene DOID:630 genetic disease ISO RGD:1313247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385724 DAPK2 death associated protein kinase 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1312311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28978663 12385724 DAPK2 death associated protein kinase 2 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1312311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12385724 DAPK2 death associated protein kinase 2 gene DOID:2717 Bloom syndrome ISO RGD:1312311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12385724 DAPK2 death associated protein kinase 2 gene DOID:630 genetic disease ISO RGD:1312311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385724 DAPK2 death associated protein kinase 2 gene DOID:9005369 Hepatomegaly ISO RGD:1312311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12385724 DAPK2 death associated protein kinase 2 gene DOID:9256 colorectal cancer ISO RGD:1312311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12385757 SKOR1 SKI family transcriptional corepressor 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1605497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12385757 SKOR1 SKI family transcriptional corepressor 1 gene DOID:2717 Bloom syndrome ISO RGD:1605497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12385757 SKOR1 SKI family transcriptional corepressor 1 gene DOID:9256 colorectal cancer ISO RGD:1605497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12385775 NOL8 nucleolar protein 8 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1319952 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 12385775 NOL8 nucleolar protein 8 gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1319952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 12385775 NOL8 nucleolar protein 8 gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1319952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 12385775 NOL8 nucleolar protein 8 gene DOID:630 genetic disease ISO RGD:1319952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385775 NOL8 nucleolar protein 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30125550 12385804 TRAF4 TNF receptor associated factor 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1315478 D RGD:9068941 20220310 RGD mRNA:increased expression:lung (human) PMID:29254206|REF_RGD_ID:151665107 12385804 TRAF4 TNF receptor associated factor 4 gene DOID:630 genetic disease ISO RGD:1315478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385804 TRAF4 TNF receptor associated factor 4 gene DOID:9000998 Brain Injuries ISO RGD:1315478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 12385816 C11H5orf24 chromosome 11 C5orf24 homolog gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605291 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12385816 C11H5orf24 chromosome 11 C5orf24 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12385816 C11H5orf24 chromosome 11 C5orf24 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605291 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12385822 HNRNPL heterogeneous nuclear ribonucleoprotein L gene DOID:0050457 Sertoli cell-only syndrome ISO RGD:737263 D RGD:9068941 20200609 RGD protein:decreased expression:testis (human) PMID:22245417|REF_RGD_ID:9999426 12385822 HNRNPL heterogeneous nuclear ribonucleoprotein L gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:737263 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12385822 HNRNPL heterogeneous nuclear ribonucleoprotein L gene DOID:1319 brain cancer susceptibility ISO RGD:737263 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;mRNA:decreased expression:bone marrow (human) PMID:15543619|REF_RGD_ID:10002773 12385822 HNRNPL heterogeneous nuclear ribonucleoprotein L gene DOID:1324 lung cancer severity ISO RGD:737263 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:20972334|REF_RGD_ID:9999427 12385822 HNRNPL heterogeneous nuclear ribonucleoprotein L gene DOID:418 systemic scleroderma ISO RGD:737263 D RGD:9068941 20200609 RGD PMID:21569507|REF_RGD_ID:9999440 12385822 HNRNPL heterogeneous nuclear ribonucleoprotein L gene DOID:630 genetic disease ISO RGD:737263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385822 HNRNPL heterogeneous nuclear ribonucleoprotein L gene DOID:684 hepatocellular carcinoma ISO RGD:737263 D RGD:9068941 20200609 RGD associated with Hepatitis B PMID:24125732|REF_RGD_ID:9999429 12385822 HNRNPL heterogeneous nuclear ribonucleoprotein L gene DOID:9000217 Stomach Neoplasms ISO RGD:737263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12385822 HNRNPL heterogeneous nuclear ribonucleoprotein L gene DOID:9000918 Disease Progression ISO RGD:737263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12385822 HNRNPL heterogeneous nuclear ribonucleoprotein L gene DOID:9008939 Breast Neoplasms ISO RGD:737263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12385822 HNRNPL heterogeneous nuclear ribonucleoprotein L gene DOID:9352 type 2 diabetes mellitus ISO RGD:737263 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12385838 GMFB glia maturation factor beta gene DOID:0090043 dystonia 5 ISO RGD:735553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:17111153|PMID:19332422|PMID:19491146|PMID:25557619|PMID:28492532|PMID:9667588 12385838 GMFB glia maturation factor beta gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:735553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:18252212|PMID:21340693|PMID:28492532 12385838 GMFB glia maturation factor beta gene DOID:630 genetic disease ISO RGD:735553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385851 RPA2 replication protein A2 gene DOID:630 genetic disease ISO RGD:1344829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385864 MIR455 microRNA mir-455 gene DOID:2043 hepatitis B ISO RGD:1604864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12385864 MIR455 microRNA mir-455 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1604864 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:22975021 12385864 MIR455 microRNA mir-455 gene DOID:684 hepatocellular carcinoma ISO RGD:1604864 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35286011 12385864 MIR455 microRNA mir-455 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12385880 VAMP3 vesicle associated membrane protein 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736779 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12385880 VAMP3 vesicle associated membrane protein 3 gene DOID:630 genetic disease ISO RGD:736779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385880 VAMP3 vesicle associated membrane protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12385918 C12H6orf136 chromosome 12 C6orf136 homolog gene DOID:11372 megacolon ISO RGD:1348259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12385928 ELAPOR2 endosome-lysosome associated apoptosis and autophagy regulator family member 2 gene DOID:1826 epilepsy ISO RGD:1603535 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 12385928 ELAPOR2 endosome-lysosome associated apoptosis and autophagy regulator family member 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12385928 ELAPOR2 endosome-lysosome associated apoptosis and autophagy regulator family member 2 gene DOID:630 genetic disease ISO RGD:1603535 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385954 OSCP1 organic solute carrier partner 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12385954 OSCP1 organic solute carrier partner 1 gene DOID:630 genetic disease ISO RGD:1606165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12385967 DOCK8 dedicator of cytokinesis 8 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1603953 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12385967 DOCK8 dedicator of cytokinesis 8 gene DOID:0070032 autosomal dominant intellectual developmental disorder 2 ISO RGD:1603953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 2 PMID:28492532 12385967 DOCK8 dedicator of cytokinesis 8 gene DOID:0080545 hyper IgE syndrome ISO RGD:1603953 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HIES autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE syndrome | ClinVar Annotator: match by term: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive PMID:14722525|PMID:16199547|PMID:16391785|PMID:17576681|PMID:18060736|PMID:19776401|PMID:20004785|PMID:20226292|PMID:20622910|PMID:21324546|PMID:22006977|PMID:22476911|PMID:22534316|PMID:23380217|PMID:23859592|PMID:24033266|PMID:24418481|PMID:24673638|PMID:24797421|PMID:25167861|PMID:25640679|PMID:25724123|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26573532|PMID:26659092|PMID:26680607|PMID:26744459|PMID:27379089|PMID:27398204|PMID:27872624|PMID:27890707|PMID:27980540|PMID:28070732|PMID:28191889|PMID:28492532|PMID:28750028|PMID:29058101|PMID:29483666|PMID:29867916|PMID:30425284|PMID:30564305|PMID:30697212|PMID:31242861|PMID:31596517|PMID:31980526|PMID:32108967|PMID:32135276|PMID:32531373|PMID:32888943|PMID:33251169|PMID:33290277|PMID:33587123|PMID:9536098 12385967 DOCK8 dedicator of cytokinesis 8 gene DOID:0080594 hyper IgE recurrent infection syndrome 2 ISO RGD:1603953 D RGD:7240710 20190227 OMIM 12385967 DOCK8 dedicator of cytokinesis 8 gene DOID:0080594 hyper IgE recurrent infection syndrome 2 ISO RGD:1603953 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE PMID:14722525|PMID:16199547|PMID:16391785|PMID:17576681|PMID:18060736|PMID:19776401|PMID:20004785|PMID:20226292|PMID:20622910|PMID:21324546|PMID:22006977|PMID:22476911|PMID:22534316|PMID:23380217|PMID:23859592|PMID:24033266|PMID:24418481|PMID:24673638|PMID:24797421|PMID:25167861|PMID:25640679|PMID:25724123|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26573532|PMID:26659092|PMID:26680607|PMID:26744459|PMID:27379089|PMID:27398204|PMID:27872624|PMID:27890707|PMID:27980540|PMID:28070732|PMID:28191889|PMID:28492532|PMID:28750028|PMID:29058101|PMID:29483666|PMID:29867916|PMID:30425284|PMID:30564305|PMID:30697212|PMID:31242861|PMID:31596517|PMID:31980526|PMID:32108967|PMID:32135276|PMID:32531373|PMID:32888943|PMID:33251169|PMID:33290277|PMID:33587123|PMID:9536098 12385967 DOCK8 dedicator of cytokinesis 8 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1603953 D RGD:9068941 20201203 RGD DNA:mutations:cds:c.2402 ���1G>A,c.1498 C>T (p.R500X)(human) PMID:29058101|REF_RGD_ID:40886273 12385967 DOCK8 dedicator of cytokinesis 8 gene DOID:104 bacterial infectious disease susceptibility ISO RGD:1603953 D RGD:9068941 20201204 RGD DNA:mutations: : PMID:25724123|REF_RGD_ID:40886274 12385967 DOCK8 dedicator of cytokinesis 8 gene DOID:1059 intellectual disability ISO RGD:1603953 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:14722525|PMID:16199547|PMID:18060736|PMID:19776401|PMID:24033266|PMID:25724123|PMID:25741868|PMID:26046366|PMID:26744459|PMID:28492532|PMID:29867916|PMID:31596517|PMID:31980526 12385967 DOCK8 dedicator of cytokinesis 8 gene DOID:2043 hepatitis B disease_progression ISO RGD:1603953 D RGD:9068941 20210108 RGD DNA:SNP::rs506121(human) PMID:32297155|REF_RGD_ID:40903057 12385967 DOCK8 dedicator of cytokinesis 8 gene DOID:3310 atopic dermatitis ISO RGD:1603953 D RGD:9068941 20210108 RGD DNA:mutations:cds: PMID:22476911|REF_RGD_ID:40903056 12385967 DOCK8 dedicator of cytokinesis 8 gene DOID:5419 schizophrenia ISO RGD:1603953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12385967 DOCK8 dedicator of cytokinesis 8 gene DOID:5810 adenosine deaminase deficiency ISO RGD:1603953 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Bubble boy disease PMID:14722525|PMID:16199547|PMID:18060736|PMID:19776401|PMID:24033266|PMID:25724123|PMID:25741868|PMID:26046366|PMID:26744459|PMID:28492532|PMID:31980526 12385967 DOCK8 dedicator of cytokinesis 8 gene DOID:612 primary immunodeficiency disease ISO RGD:1603953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12385967 DOCK8 dedicator of cytokinesis 8 gene DOID:627 severe combined immunodeficiency ISO RGD:1603953 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:14722525|PMID:16199547|PMID:18060736|PMID:19776401|PMID:24033266|PMID:25724123|PMID:25741868|PMID:26046366|PMID:26744459|PMID:27891178|PMID:28492532|PMID:29930340|PMID:30697212|PMID:31980526|PMID:32888943 12385967 DOCK8 dedicator of cytokinesis 8 gene DOID:630 genetic disease ISO RGD:1603953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12385967 DOCK8 dedicator of cytokinesis 8 gene DOID:687 hepatoblastoma ISO RGD:1603953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 12385967 DOCK8 dedicator of cytokinesis 8 gene DOID:769 neuroblastoma ISO RGD:1603953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 12385967 DOCK8 dedicator of cytokinesis 8 gene DOID:8566 herpes simplex severity ISO RGD:1317066 D RGD:9068941 20210108 RGD PMID:25776845|REF_RGD_ID:11055046 12385967 DOCK8 dedicator of cytokinesis 8 gene DOID:9002801 Recurrence ISO RGD:1603953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 12385967 DOCK8 dedicator of cytokinesis 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12385967 DOCK8 dedicator of cytokinesis 8 gene DOID:9007356 Eczema ISO RGD:1603953 D RGD:9068941 20201218 RGD DNA:mutations: : PMID:22534316|REF_RGD_ID:40902960 12385967 DOCK8 dedicator of cytokinesis 8 gene DOID:9008086 Developmental Disabilities ISO RGD:1603953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18060736 12385967 DOCK8 dedicator of cytokinesis 8 gene DOID:934 viral infectious disease susceptibility ISO RGD:1603953 D RGD:9068941 20201204 RGD DNA:mutations: : PMID:25724123|REF_RGD_ID:40886274 12385967 DOCK8 dedicator of cytokinesis 8 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1561588 D RGD:9068941 20200609 RGD PMID:26363782|REF_RGD_ID:11532657 12386022 VLDLR very low density lipoprotein receptor gene DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome IAGP D RGD:12801476 20210603 OMIA Cerebellar hypoplasia, VLDLR-associated PMID:25668516|PMID:25668033 12386022 VLDLR very low density lipoprotein receptor gene DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ISO RGD:733926 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cerebellar disorder, nonprogressive, with mental retardation | ClinVar Annotator: match by term: Cerebellar hypoplasia, VLDLR associated | ClinVar Annotator: match by term: Dysequilibrium syndrome PMID:11913577|PMID:16080122|PMID:18043714|PMID:18326629|PMID:18364738|PMID:18414213|PMID:20301729|PMID:22700954|PMID:22973972|PMID:25741868|PMID:28492532 12386022 VLDLR very low density lipoprotein receptor gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:733926 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12386022 VLDLR very low density lipoprotein receptor gene DOID:0070338 cerebellar hypoplasia ISO RGD:733926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:18414213|PMID:25741868|PMID:28492532 12386022 VLDLR very low density lipoprotein receptor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:733926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 12386022 VLDLR very low density lipoprotein receptor gene DOID:0110014 age related macular degeneration 1 ISO RGD:733927 D RGD:9068941 20220825 MouseDO OMIM:603075 12386022 VLDLR very low density lipoprotein receptor gene DOID:1059 intellectual disability ISO RGD:733926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25741868|PMID:28492532 12386022 VLDLR very low density lipoprotein receptor gene DOID:10652 Alzheimer's disease ISO RGD:733926 D RGD:9068941 20200609 RGD DNA:repeat PMID:7550352|REF_RGD_ID:737739 12386022 VLDLR very low density lipoprotein receptor gene DOID:10907 microcephaly ISO RGD:733926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12386022 VLDLR very low density lipoprotein receptor gene DOID:1168 familial hyperlipidemia ISO RGD:733927 D RGD:9068941 20200609 RGD PMID:10985956|REF_RGD_ID:1625570 12386022 VLDLR very low density lipoprotein receptor gene DOID:1184 nephrotic syndrome ISO RGD:3963 D RGD:9068941 20200609 RGD protein:decreased expression:heart, skeletal muscle (rat) PMID:9186864|REF_RGD_ID:2324668 12386022 VLDLR very low density lipoprotein receptor gene DOID:12849 autistic disorder ISO RGD:733926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15820235 12386022 VLDLR very low density lipoprotein receptor gene DOID:12849 autistic disorder ISO RGD:733926 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebellum, Brodmann area 9 (human) PMID:15820235|REF_RGD_ID:2317973 12386022 VLDLR very low density lipoprotein receptor gene DOID:1307 dementia ISO RGD:733926 D RGD:9068941 20200609 RGD DNA:repeat PMID:11342683|REF_RGD_ID:737740 12386022 VLDLR very low density lipoprotein receptor gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:3963 D RGD:9068941 20200609 RGD protein:decreased expression:adipose tissue, skeletal muscle (rat) PMID:11786096|REF_RGD_ID:2324671 12386022 VLDLR very low density lipoprotein receptor gene DOID:13938 amenorrhea ISO RGD:733926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12386022 VLDLR very low density lipoprotein receptor gene DOID:2349 arteriosclerosis ISO RGD:733927 D RGD:9068941 20200609 RGD PMID:10985956|REF_RGD_ID:1625570 12386022 VLDLR very low density lipoprotein receptor gene DOID:630 genetic disease ISO RGD:733926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27000652|PMID:28492532 12386022 VLDLR very low density lipoprotein receptor gene DOID:9000808 Hypercholesterolemia ISO RGD:733927 D RGD:9068941 20200609 RGD PMID:8636110|REF_RGD_ID:1625573 12386022 VLDLR very low density lipoprotein receptor gene DOID:9002943 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 ISO RGD:733926 D RGD:7240710 20190327 OMIM 12386022 VLDLR very low density lipoprotein receptor gene DOID:9002943 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 ISO RGD:733926 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1 | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | ClinVar Annotator: match by term: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 PMID:11913577|PMID:16080122|PMID:18043714|PMID:18326629|PMID:18364738|PMID:18414213|PMID:20301729|PMID:22700954|PMID:22973972|PMID:25741868|PMID:28492532 12386022 VLDLR very low density lipoprotein receptor gene DOID:9003936 Cardiomegaly ISO RGD:3963 D RGD:9068941 20200609 RGD associated with Hypertension; mRNA:decreased expression:heart ventricle PMID:8603509|REF_RGD_ID:1625579 12386022 VLDLR very low density lipoprotein receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3963 D RGD:9068941 20200609 RGD protein:decreased expression:heart, skeletal muscle PMID:15878964|REF_RGD_ID:1625575 12386022 VLDLR very low density lipoprotein receptor gene DOID:9006534 Nervous System Malformations ISO RGD:733926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12386022 VLDLR very low density lipoprotein receptor gene DOID:9006599 Hypertriglyceridemia ISO RGD:3963 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic;mRNA, protein:decreased expression:adipose tissue, skeletal muscle PMID:9507207|REF_RGD_ID:1625577 12386022 VLDLR very low density lipoprotein receptor gene DOID:9970 obesity ISO RGD:733926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20975297 12386022 VLDLR very low density lipoprotein receptor gene DOID:9970 obesity susceptibility ISO RGD:733927 D RGD:9068941 20200609 RGD PMID:11557677|REF_RGD_ID:1625568 12386053 KIAA1143 KIAA1143 gene DOID:630 genetic disease ISO RGD:1606528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386060 BORCS7 BLOC-1 related complex subunit 7 gene DOID:2367 neuroaxonal dystrophy ISO RGD:1623226 D RGD:9068941 20220825 MouseDO 12386060 BORCS7 BLOC-1 related complex subunit 7 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1623226 D RGD:9068941 20220825 MouseDO 12386060 BORCS7 BLOC-1 related complex subunit 7 gene DOID:5419 schizophrenia ISO RGD:1323417 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:27158905 12386060 BORCS7 BLOC-1 related complex subunit 7 gene DOID:630 genetic disease ISO RGD:1323417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386069 ANKRA2 ankyrin repeat family A member 2 gene DOID:630 genetic disease ISO RGD:1347651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386069 ANKRA2 ankyrin repeat family A member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12386083 MOCS2 molybdenum cofactor synthesis 2 gene DOID:0111045 platelet-type bleeding disorder 9 ISO RGD:1347583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 12386083 MOCS2 molybdenum cofactor synthesis 2 gene DOID:0111163 molybdenum cofactor deficiency type B ISO RGD:1347583 D RGD:7240710 20180130 OMIM 12386083 MOCS2 molybdenum cofactor synthesis 2 gene DOID:0111163 molybdenum cofactor deficiency type B ISO RGD:1347583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group B PMID:10053003|PMID:10053004|PMID:11746050|PMID:12732628|PMID:12754701|PMID:1427786|PMID:16021469|PMID:16737835|PMID:17576681|PMID:21031595|PMID:23436702|PMID:24033266|PMID:25741868|PMID:27146152|PMID:27289259|PMID:28492532|PMID:30810871|PMID:33502714|PMID:9459218|PMID:9536098 12386083 MOCS2 molybdenum cofactor synthesis 2 gene DOID:0111164 molybdenum cofactor deficiency type A ISO RGD:1347583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A PMID:11746050|PMID:21031595|PMID:28492532 12386083 MOCS2 molybdenum cofactor synthesis 2 gene DOID:0111165 molybdenum cofactor deficiency ISO RGD:1347583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency PMID:10053004|PMID:28492532 12386083 MOCS2 molybdenum cofactor synthesis 2 gene DOID:630 genetic disease ISO RGD:1347583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12386083 MOCS2 molybdenum cofactor synthesis 2 gene DOID:655 inherited metabolic disorder ISO RGD:1553221 D RGD:9068941 20220825 MouseDO 12386083 MOCS2 molybdenum cofactor synthesis 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12386107 CDK16 cyclin dependent kinase 16 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:734014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12386107 CDK16 cyclin dependent kinase 16 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:734014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 12386107 CDK16 cyclin dependent kinase 16 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:734014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12386107 CDK16 cyclin dependent kinase 16 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:734014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12386107 CDK16 cyclin dependent kinase 16 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:734014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 12386107 CDK16 cyclin dependent kinase 16 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:734014 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12386107 CDK16 cyclin dependent kinase 16 gene DOID:1059 intellectual disability ISO RGD:734014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12386107 CDK16 cyclin dependent kinase 16 gene DOID:12849 autistic disorder ISO RGD:734014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12386107 CDK16 cyclin dependent kinase 16 gene DOID:630 genetic disease ISO RGD:734014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386107 CDK16 cyclin dependent kinase 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12386140 FILIP1 filamin A interacting protein 1 gene DOID:630 genetic disease ISO RGD:1347231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386140 FILIP1 filamin A interacting protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1347231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12386140 FILIP1 filamin A interacting protein 1 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1347231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 12386159 SLC26A11 solute carrier family 26 member 11 gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1314648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:28492532 12386159 SLC26A11 solute carrier family 26 member 11 gene DOID:630 genetic disease ISO RGD:1314648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386159 SLC26A11 solute carrier family 26 member 11 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1314648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 12386183 LEKR1 leucine, glutamate and lysine rich 1 gene DOID:630 genetic disease ISO RGD:1605790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386209 WNT8B Wnt family member 8B gene DOID:10487 Hirschsprung's disease ISO RGD:1316953 D RGD:9068941 20200609 RGD PMID:20972907|REF_RGD_ID:12801434 12386209 WNT8B Wnt family member 8B gene DOID:630 genetic disease ISO RGD:1316953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386218 RBM20 RNA binding motif protein 20 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1316618 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:23396983|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26498160|PMID:26656175|PMID:27296017|PMID:28492532|PMID:29892087|PMID:30775854 12386218 RBM20 RNA binding motif protein 20 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1316618 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:27854218 12386218 RBM20 RNA binding motif protein 20 gene DOID:0050700 cardiomyopathy ISO RGD:1316618 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:22466703|PMID:23396983|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25448463|PMID:25637381|PMID:25741868|PMID:26084686|PMID:26257771|PMID:26272908|PMID:26498160|PMID:26656175|PMID:27296017|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27650965|PMID:27896284|PMID:28074886|PMID:28087566|PMID:28301460|PMID:28492532|PMID:28798025|PMID:29247119|PMID:29517769|PMID:29540472|PMID:29628476|PMID:29650543|PMID:29892087|PMID:29895960|PMID:30012837|PMID:30547036|PMID:30775854|PMID:30847666|PMID:30871348|PMID:30871351|PMID:30972196|PMID:31737537|PMID:32187365|PMID:32840935|PMID:32851336|PMID:32880476|PMID:33134301|PMID:34540771 12386218 RBM20 RNA binding motif protein 20 gene DOID:0060224 atrial fibrillation ISO RGD:1316618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12386218 RBM20 RNA binding motif protein 20 gene DOID:0060224 atrial fibrillation ISO RGD:1616733 D RGD:9068941 20220825 MouseDO 12386218 RBM20 RNA binding motif protein 20 gene DOID:0060319 cardiac arrest ISO RGD:1316618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:22004663|PMID:24033266|PMID:24503780|PMID:25637381|PMID:25741868|PMID:27896284|PMID:28492532|PMID:28798025 12386218 RBM20 RNA binding motif protein 20 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1316618 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25163546|PMID:25351510|PMID:25741868|PMID:28492532|PMID:30847666 12386218 RBM20 RNA binding motif protein 20 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:1316618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 12386218 RBM20 RNA binding motif protein 20 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1316618 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24033266|PMID:25163546|PMID:25351510|PMID:25741868|PMID:28492532|PMID:30847666 12386218 RBM20 RNA binding motif protein 20 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1316618 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:19712804|PMID:20590677|PMID:22004663|PMID:22466703|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25351510|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:29253866|PMID:29367541|PMID:29650543|PMID:30847666|PMID:30871348|PMID:31737537|PMID:32840935|PMID:32969603 12386218 RBM20 RNA binding motif protein 20 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1316618 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:19712804|PMID:20590677|PMID:22004663|PMID:22466703|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25351510|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:29253866|PMID:29367541|PMID:29650543|PMID:30847666|PMID:30871348|PMID:31737537|PMID:32840935|PMID:32969603 12386218 RBM20 RNA binding motif protein 20 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1316618 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:25448463|PMID:25741868|PMID:26084686|PMID:28492532|PMID:29247119|PMID:29895960|PMID:30972196 12386218 RBM20 RNA binding motif protein 20 gene DOID:0110447 dilated cardiomyopathy 1DD ISO RGD:1316618 D RGD:7240710 20180130 OMIM 12386218 RBM20 RNA binding motif protein 20 gene DOID:0110447 dilated cardiomyopathy 1DD ISO RGD:1316618 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:16199547|PMID:17576681|PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:21846512|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23396983|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25163546|PMID:25351510|PMID:25448463|PMID:25637381|PMID:25741868|PMID:25979592|PMID:26084686|PMID:26257771|PMID:26272908|PMID:26458567|PMID:26498160|PMID:26604136|PMID:26656175|PMID:27296017|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27650965|PMID:27896284|PMID:28074886|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28301460|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28704380|PMID:28798025|PMID:29029073|PMID:29247119|PMID:29253866|PMID:29367541|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29628476|PMID:29650543|PMID:29892087|PMID:29895960|PMID:29915098|PMID:29961767|PMID:30012837|PMID:30165862|PMID:30262924|PMID:30262925|PMID:30276801|PMID:30487145|PMID:30547036|PMID:30557877|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30871348|PMID:30871351|PMID:30972196|PMID:31198128|PMID:31317183|PMID:31333075|PMID:31376648|PMID:31514951|PMID:31568572|PMID:31583969|PMID:31638414|PMID:31648988|PMID:31737537|PMID:31918855|PMID:32187365|PMID:32344918|PMID:32674065|PMID:32746448|PMID:32789579|PMID:32789749|PMID:32817827|PMID:32840935|PMID:32851336|PMID:32880476|PMID:32969603|PMID:33019804|PMID:33029862|PMID:33134301|PMID:33188278|PMID:33450993|PMID:33662488|PMID:34174465|PMID:34486814|PMID:34540771|PMID:35470680|PMID:36417486|PMID:9536098 12386218 RBM20 RNA binding motif protein 20 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1316618 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:19712804|PMID:20590677|PMID:22004663|PMID:22466703|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:29253866|PMID:29367541|PMID:29650543|PMID:30847666|PMID:30871348|PMID:31737537|PMID:32840935|PMID:32969603 12386218 RBM20 RNA binding motif protein 20 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1316618 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:22004663|PMID:24033266|PMID:24503780|PMID:25637381|PMID:25741868|PMID:27650965|PMID:27896284|PMID:28492532|PMID:28798025|PMID:29650543|PMID:29895960|PMID:30847666|PMID:30871348|PMID:32187365|PMID:32840935 12386218 RBM20 RNA binding motif protein 20 gene DOID:12930 dilated cardiomyopathy ISO RGD:1316618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25163546|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26084686|PMID:26458567|PMID:26604136|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27896284|PMID:28492532|PMID:28798025|PMID:29029073|PMID:29540472|PMID:29650543|PMID:30012837|PMID:30871348|PMID:30871351|PMID:31333075|PMID:31568572|PMID:32789749|PMID:32880476 12386218 RBM20 RNA binding motif protein 20 gene DOID:12930 dilated cardiomyopathy ISO RGD:1316618 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25163546|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26084686|PMID:26458567|PMID:26604136|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27896284|PMID:28492532|PMID:28798025|PMID:29029073|PMID:29540472|PMID:29650543|PMID:30012837|PMID:30871348|PMID:30871351|PMID:31333075|PMID:31568572|PMID:32789749|PMID:32880476|PMID:34540771 12386218 RBM20 RNA binding motif protein 20 gene DOID:12930 dilated cardiomyopathy ISO RGD:1316618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25163546|PMID:25351510|PMID:25448463|PMID:25637381|PMID:25741868|PMID:26084686|PMID:26458567|PMID:26604136|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27650965|PMID:27896284|PMID:28492532|PMID:28798025|PMID:29029073|PMID:29253866|PMID:29367541|PMID:29540472|PMID:29650543|PMID:29895960|PMID:30012837|PMID:30165862|PMID:30487145|PMID:30547036|PMID:30847666|PMID:30871348|PMID:30871351|PMID:30972196|PMID:31317183|PMID:31333075|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31918855|PMID:32187365|PMID:32789749|PMID:32840935|PMID:32880476|PMID:32969603|PMID:33134301|PMID:33662488|PMID:34174465|PMID:34540771 12386218 RBM20 RNA binding motif protein 20 gene DOID:12930 dilated cardiomyopathy severity ISO RGD:1316618 D RGD:9068941 20221110 RGD DNA:missense mutations:exon 9:multiple (human) PMID:19712804|REF_RGD_ID:11067476 12386218 RBM20 RNA binding motif protein 20 gene DOID:2843 long QT syndrome ISO RGD:1316618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:22004663|PMID:23396983|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26498160|PMID:26656175|PMID:27296017|PMID:28492532|PMID:30775854 12386218 RBM20 RNA binding motif protein 20 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1316618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 12386218 RBM20 RNA binding motif protein 20 gene DOID:6000 congestive heart failure ISO RGD:1316618 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Heart failure PMID:25741868|PMID:28492532|PMID:31376648 12386218 RBM20 RNA binding motif protein 20 gene DOID:630 genetic disease ISO RGD:1316618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12386218 RBM20 RNA binding motif protein 20 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1316618 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:24033266|PMID:24503780|PMID:25741868|PMID:27496873|PMID:27531932|PMID:27532257|PMID:28492532|PMID:29650543|PMID:29895960|PMID:30547036|PMID:30871348|PMID:30871351|PMID:32187365|PMID:32840935|PMID:33134301|PMID:34540771 12386218 RBM20 RNA binding motif protein 20 gene DOID:9003163 Heart Block ISO RGD:1316618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:24033266|PMID:25741868|PMID:28492532 12386218 RBM20 RNA binding motif protein 20 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1316618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:28492532 12386218 RBM20 RNA binding motif protein 20 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:1316618 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:24033266|PMID:25741868|PMID:28492532 12386249 CPA6 carboxypeptidase A6 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1323390 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Periventricular heterotopia PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362 12386249 CPA6 carboxypeptidase A6 gene DOID:0060752 familial temporal lobe epilepsy 5 ISO RGD:1323390 D RGD:7240710 20180130 OMIM 12386249 CPA6 carboxypeptidase A6 gene DOID:0060752 familial temporal lobe epilepsy 5 ISO RGD:1323390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 5 PMID:17576681|PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28166811|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362|PMID:9536098 12386249 CPA6 carboxypeptidase A6 gene DOID:0060755 familial temporal lobe epilepsy 2 ISO RGD:1323390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 2 12386249 CPA6 carboxypeptidase A6 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1323390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:24360807|PMID:24360808|PMID:28492532 12386249 CPA6 carboxypeptidase A6 gene DOID:0111308 familial febrile seizures 11 ISO RGD:1323390 D RGD:7240710 20180130 OMIM 12386249 CPA6 carboxypeptidase A6 gene DOID:0111308 familial febrile seizures 11 ISO RGD:1323390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial, 11 PMID:16199547|PMID:17576681|PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:27781031|PMID:28166811|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362|PMID:9536098 12386249 CPA6 carboxypeptidase A6 gene DOID:10283 prostate cancer ISO RGD:1323390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12386249 CPA6 carboxypeptidase A6 gene DOID:1059 intellectual disability ISO RGD:1323390 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21922598|PMID:23105115|PMID:25741868|PMID:28492532|PMID:29358611 12386249 CPA6 carboxypeptidase A6 gene DOID:1826 epilepsy ISO RGD:1323390 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362 12386249 CPA6 carboxypeptidase A6 gene DOID:2234 focal epilepsy ISO RGD:1323390 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362 12386249 CPA6 carboxypeptidase A6 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1323390 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362 12386249 CPA6 carboxypeptidase A6 gene DOID:630 genetic disease ISO RGD:1323390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12386249 CPA6 carboxypeptidase A6 gene DOID:9000348 Confusion ISO RGD:1323390 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Confusion PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362 12386249 CPA6 carboxypeptidase A6 gene DOID:9008086 Developmental Disabilities ISO RGD:1323390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362 12386265 PEX14 peroxisomal biogenesis factor 14 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:5013857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12386265 PEX14 peroxisomal biogenesis factor 14 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:5013857 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12386265 PEX14 peroxisomal biogenesis factor 14 gene DOID:0111936 immunodeficiency 14 ISO RGD:5013857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 12386265 PEX14 peroxisomal biogenesis factor 14 gene DOID:630 genetic disease ISO RGD:5013857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386278 TENT4A terminal nucleotidyltransferase 4A gene DOID:630 genetic disease ISO RGD:1316507 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386299 LOC488436 serine/threonine-protein kinase 19-like gene DOID:0050553 JMP syndrome ISO RGD:1347475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12386299 LOC488436 serine/threonine-protein kinase 19-like gene DOID:1909 melanoma ISO RGD:1347475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:26619011 12386299 LOC488436 serine/threonine-protein kinase 19-like gene DOID:2513 basal cell carcinoma ISO RGD:1347475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 12386299 LOC488436 serine/threonine-protein kinase 19-like gene DOID:630 genetic disease ISO RGD:1347475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386299 LOC488436 serine/threonine-protein kinase 19-like gene DOID:8923 skin melanoma ISO RGD:1347475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:26619011 12386304 ARHGEF37 Rho guanine nucleotide exchange factor 37 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602402 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12386304 ARHGEF37 Rho guanine nucleotide exchange factor 37 gene DOID:630 genetic disease ISO RGD:1602402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386304 ARHGEF37 Rho guanine nucleotide exchange factor 37 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12386304 ARHGEF37 Rho guanine nucleotide exchange factor 37 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602402 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12386327 TTC36 tetratricopeptide repeat domain 36 gene DOID:0060017 CD3epsilon deficiency ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12386327 TTC36 tetratricopeptide repeat domain 36 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:2293598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12386327 TTC36 tetratricopeptide repeat domain 36 gene DOID:0080690 RASopathy ISO RGD:2293598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12386327 TTC36 tetratricopeptide repeat domain 36 gene DOID:0081330 glycogen storage disease Ib ISO RGD:2293598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12386327 TTC36 tetratricopeptide repeat domain 36 gene DOID:0110651 long QT syndrome 10 ISO RGD:2293598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12386327 TTC36 tetratricopeptide repeat domain 36 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12386327 TTC36 tetratricopeptide repeat domain 36 gene DOID:0111971 immunodeficiency 18 ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12386327 TTC36 tetratricopeptide repeat domain 36 gene DOID:0111972 immunodeficiency 19 ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12386327 TTC36 tetratricopeptide repeat domain 36 gene DOID:0111973 immunodeficiency 17 ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12386327 TTC36 tetratricopeptide repeat domain 36 gene DOID:630 genetic disease ISO RGD:2293598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386327 TTC36 tetratricopeptide repeat domain 36 gene DOID:684 hepatocellular carcinoma ISO RGD:2293598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12386327 TTC36 tetratricopeptide repeat domain 36 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2293598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12386327 TTC36 tetratricopeptide repeat domain 36 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:2293598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12386327 TTC36 tetratricopeptide repeat domain 36 gene DOID:9007661 Dwarfism ISO RGD:2293598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12386334 IMPACT impact RWD domain protein gene DOID:1059 intellectual disability ISO RGD:1605062 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12386334 IMPACT impact RWD domain protein gene DOID:630 genetic disease ISO RGD:1605062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386357 SLC7A8 solute carrier family 7 member 8 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1345085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12386357 SLC7A8 solute carrier family 7 member 8 gene DOID:10003 sensorineural hearing loss ISO RGD:733687 D RGD:9068941 20220825 MouseDO OMIM:304400 12386357 SLC7A8 solute carrier family 7 member 8 gene DOID:289 endometriosis ISO RGD:1345085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12386357 SLC7A8 solute carrier family 7 member 8 gene DOID:630 genetic disease ISO RGD:1345085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386357 SLC7A8 solute carrier family 7 member 8 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1345085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 12386357 SLC7A8 solute carrier family 7 member 8 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1345085 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12386357 SLC7A8 solute carrier family 7 member 8 gene DOID:9007661 Dwarfism ISO RGD:1345085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12386379 CCNDBP1 cyclin D1 binding protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1312246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12386379 CCNDBP1 cyclin D1 binding protein 1 gene DOID:630 genetic disease ISO RGD:1312246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386379 CCNDBP1 cyclin D1 binding protein 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1312246 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16501603 12386379 CCNDBP1 cyclin D1 binding protein 1 gene DOID:9256 colorectal cancer ISO RGD:1312246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12386394 PIP4K2A phosphatidylinositol-5-phosphate 4-kinase type 2 alpha gene DOID:1909 melanoma ISO RGD:734348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12386394 PIP4K2A phosphatidylinositol-5-phosphate 4-kinase type 2 alpha gene DOID:630 genetic disease ISO RGD:734348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386408 TEN1 TEN1 subunit of CST complex gene DOID:0050797 peroxisomal acyl-CoA oxidase deficiency ISO RGD:2801979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency 12386423 PDE3A phosphodiesterase 3A gene DOID:0060903 thrombosis ISO RGD:734436 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17482796 12386423 PDE3A phosphodiesterase 3A gene DOID:0111247 hypertension and brachydactyly syndrome ISO RGD:734436 D RGD:7240710 20180130 OMIM 12386423 PDE3A phosphodiesterase 3A gene DOID:0111247 hypertension and brachydactyly syndrome ISO RGD:734436 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bilginturan syndrome PMID:25741868|PMID:25961942|PMID:28492532|PMID:4774535 12386423 PDE3A phosphodiesterase 3A gene DOID:10283 prostate cancer ISO RGD:734436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12386423 PDE3A phosphodiesterase 3A gene DOID:5844 myocardial infarction ISO RGD:734436 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19027736 12386423 PDE3A phosphodiesterase 3A gene DOID:630 genetic disease ISO RGD:734436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25961942|PMID:28492532|PMID:4774535 12386423 PDE3A phosphodiesterase 3A gene DOID:6432 pulmonary hypertension ISO RGD:61942 D RGD:9068941 20200609 RGD mRNA:increased expression:pulmonary artery PMID:12466227|REF_RGD_ID:1582528 12386423 PDE3A phosphodiesterase 3A gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:61942 D RGD:9068941 20200609 RGD PMID:12834273|REF_RGD_ID:2312523 12386423 PDE3A phosphodiesterase 3A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61942 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mesenteric artery PMID:12793980|REF_RGD_ID:2300416 12386423 PDE3A phosphodiesterase 3A gene DOID:9007096 Stroke ISO RGD:734436 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 12386423 PDE3A phosphodiesterase 3A gene DOID:9970 obesity ISO RGD:61942 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:9648839|REF_RGD_ID:2300415 12386446 DOC2B double C2 domain beta gene DOID:630 genetic disease ISO RGD:732162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386499 MRPL16 mitochondrial ribosomal protein L16 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1354403 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12386499 MRPL16 mitochondrial ribosomal protein L16 gene DOID:1059 intellectual disability ISO RGD:1354403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12386499 MRPL16 mitochondrial ribosomal protein L16 gene DOID:630 genetic disease ISO RGD:1354403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386507 ZFTA zinc finger translocation associated gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:2910589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12386507 ZFTA zinc finger translocation associated gene DOID:1059 intellectual disability ISO RGD:2910589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12386507 ZFTA zinc finger translocation associated gene DOID:3070 high grade glioma ISO RGD:2910589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12386513 INAVA innate immunity activator gene DOID:0050589 inflammatory bowel disease ISO RGD:1601862 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983784 12386513 INAVA innate immunity activator gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1601862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12386513 INAVA innate immunity activator gene DOID:0112155 inflammatory bowel disease 29 ISO RGD:1601862 D RGD:7240710 20200311 OMIM 12386513 INAVA innate immunity activator gene DOID:0112155 inflammatory bowel disease 29 ISO RGD:1601862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 29 PMID:21983784|PMID:25741868|PMID:29420262 12386513 INAVA innate immunity activator gene DOID:1540 parathyroid carcinoma ISO RGD:1601862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12386513 INAVA innate immunity activator gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1601862 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12386513 INAVA innate immunity activator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12386530 DENND1C DENN domain containing 1C gene DOID:0080490 mucolipidosis type IV ISO RGD:1345609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12386530 DENND1C DENN domain containing 1C gene DOID:630 genetic disease ISO RGD:1345609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386566 OIP5 Opa interacting protein 5 gene DOID:2717 Bloom syndrome ISO RGD:1345771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12386566 OIP5 Opa interacting protein 5 gene DOID:630 genetic disease ISO RGD:1345771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386566 OIP5 Opa interacting protein 5 gene DOID:9256 colorectal cancer ISO RGD:1345771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12386575 MIR23B microRNA mir-23b gene DOID:1059 intellectual disability ISO RGD:1349177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12386575 MIR23B microRNA mir-23b gene DOID:4001 ovarian carcinoma treatment ISO RGD:1349177 D RGD:9068941 20220224 RGD human cells in mouse model PMID:26872615|REF_RGD_ID:11555725 12386575 MIR23B microRNA mir-23b gene DOID:4947 cholangiocarcinoma ISO RGD:1349177 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34418280 12386575 MIR23B microRNA mir-23b gene DOID:684 hepatocellular carcinoma ISO RGD:1349177 D RGD:9068941 20220825 RGD DNA:hypermethylation PMID:28036298|REF_RGD_ID:153344564 12386575 MIR23B microRNA mir-23b gene DOID:7148 rheumatoid arthritis ISO RGD:1349177 D RGD:9068941 20221117 RGD mRNA, protein:decreased expression:synovial (human) PMID:22660635|REF_RGD_ID:155663483 12386575 MIR23B microRNA mir-23b gene DOID:8584 Burkitt lymphoma treatment ISO RGD:1349177 D RGD:9068941 20210129 RGD PMID:27991481|REF_RGD_ID:41404643 12386575 MIR23B microRNA mir-23b gene DOID:9002457 Experimental Arthritis ISO RGD:1607669 D RGD:9068941 20221117 RGD mRNA:decreased expression:joint (mouse) PMID:22660635|REF_RGD_ID:155663483 12386575 MIR23B microRNA mir-23b gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1607669 D RGD:9068941 20221117 RGD PMID:22660635|REF_RGD_ID:155663483 12386575 MIR23B microRNA mir-23b gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1607669 D RGD:9068941 20221117 RGD mRNA:decreased expression:spinal cord (mouse) PMID:22660635|REF_RGD_ID:155663483 12386575 MIR23B microRNA mir-23b gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1607669 D RGD:9068941 20221117 RGD PMID:22660635|REF_RGD_ID:155663483 12386575 MIR23B microRNA mir-23b gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12386575 MIR23B microRNA mir-23b gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1349177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12386575 MIR23B microRNA mir-23b gene DOID:9074 systemic lupus erythematosus ISO RGD:1349177 D RGD:9068941 20221117 RGD mRNA, protein:decreased expression:kidney (human) PMID:22660635|REF_RGD_ID:155663483 12386575 MIR23B microRNA mir-23b gene DOID:9074 systemic lupus erythematosus ISO RGD:1607669 D RGD:9068941 20221117 RGD mRNA:decreased expression:kidney (mouse) PMID:22660635|REF_RGD_ID:155663483 12386575 MIR23B microRNA mir-23b gene DOID:9074 systemic lupus erythematosus treatment ISO RGD:1607669 D RGD:9068941 20221117 RGD PMID:22660635|REF_RGD_ID:155663483 12386575 MIR23B microRNA mir-23b gene DOID:9256 colorectal cancer ISO RGD:1349177 D RGD:9068941 20220825 RGD RNA:increased expression:colorectum, blood (human) PMID:23758639|REF_RGD_ID:153344558 12386575 MIR23B microRNA mir-23b gene DOID:9970 obesity ISO RGD:1349177 D RGD:9068941 20230202 RGD associated with hepatocellular carcinoma;RNA:increased expression:exosome, liver: PMID:31321740|REF_RGD_ID:155882550 12386578 MIR98 microRNA mir-98 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1344194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12386578 MIR98 microRNA mir-98 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12386578 MIR98 microRNA mir-98 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1344194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 12386578 MIR98 microRNA mir-98 gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:1344194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 PMID:26059843|PMID:28492532 12386578 MIR98 microRNA mir-98 gene DOID:12849 autistic disorder ISO RGD:1344194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12386578 MIR98 microRNA mir-98 gene DOID:1324 lung cancer treatment ISO RGD:1607576 D RGD:9068941 20220901 RGD PMID:35289739|REF_RGD_ID:153344587 12386578 MIR98 microRNA mir-98 gene DOID:4001 ovarian carcinoma ISO RGD:1344194 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:30365097 12386578 MIR98 microRNA mir-98 gene DOID:6000 congestive heart failure ISO RGD:1344194 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12386578 MIR98 microRNA mir-98 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1344194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27270317 12386578 MIR98 microRNA mir-98 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1344194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12386578 MIR98 microRNA mir-98 gene DOID:9002928 Colonic Neoplasms ISO RGD:1344194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27270317 12386578 MIR98 microRNA mir-98 gene DOID:9004603 Atkin Syndrome ISO RGD:1344194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome PMID:26059843|PMID:28492532 12386578 MIR98 microRNA mir-98 gene DOID:9005172 Lung Neoplasms ISO RGD:1344194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27270317 12386578 MIR98 microRNA mir-98 gene DOID:9256 colorectal cancer ISO RGD:1344194 D RGD:9068941 20220721 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12386578 MIR98 microRNA mir-98 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12386603 MGRH mas-related G-protein coupled receptor member X2 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1603278 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 12386603 MGRH mas-related G-protein coupled receptor member X2 gene DOID:1059 intellectual disability ISO RGD:1603278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12386603 MGRH mas-related G-protein coupled receptor member X2 gene DOID:630 genetic disease ISO RGD:1603278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386652 TFF1 trefoil factor 1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1344671 D RGD:9068941 20200609 RGD PMID:15375487|REF_RGD_ID:2292005 12386652 TFF1 trefoil factor 1 gene DOID:0060180 colitis ISO RGD:620707 D RGD:9068941 20200609 RGD PMID:8836141|REF_RGD_ID:625375 12386652 TFF1 trefoil factor 1 gene DOID:0080365 endometrial hyperplasia ISO RGD:1344671 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:9221798|REF_RGD_ID:2298572 12386652 TFF1 trefoil factor 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1344671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12386652 TFF1 trefoil factor 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1344671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12386652 TFF1 trefoil factor 1 gene DOID:10283 prostate cancer ISO RGD:1344671 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:10458410|REF_RGD_ID:2298571 12386652 TFF1 trefoil factor 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1344671 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16467092|REF_RGD_ID:2291999 12386652 TFF1 trefoil factor 1 gene DOID:10534 stomach cancer ISO RGD:732017 D RGD:9068941 20220825 MouseDO OMIM:137215 | OMIM:613659 12386652 TFF1 trefoil factor 1 gene DOID:10608 celiac disease ISO RGD:1344671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 12386652 TFF1 trefoil factor 1 gene DOID:10808 gastric ulcer ISO RGD:620707 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:stomach mucosa PMID:11350545|REF_RGD_ID:2292012 12386652 TFF1 trefoil factor 1 gene DOID:11054 urinary bladder cancer ISO RGD:1344671 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:18283638|REF_RGD_ID:2291996 12386652 TFF1 trefoil factor 1 gene DOID:1380 endometrial cancer ISO RGD:1344671 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:endometrium PMID:10835496|REF_RGD_ID:2298569 12386652 TFF1 trefoil factor 1 gene DOID:2394 ovarian cancer ISO RGD:1344671 D RGD:9068941 20200609 RGD PMID:17624412|REF_RGD_ID:2292003 12386652 TFF1 trefoil factor 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1344671 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder urothelium PMID:7965392|REF_RGD_ID:2298573 12386652 TFF1 trefoil factor 1 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:1344671 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:9221798|REF_RGD_ID:2298572 12386652 TFF1 trefoil factor 1 gene DOID:3493 signet ring cell adenocarcinoma ISO RGD:1344671 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:18283638|REF_RGD_ID:2291996 12386652 TFF1 trefoil factor 1 gene DOID:3702 cervical adenocarcinoma ISO RGD:1344671 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:uterine cervix PMID:10727981|REF_RGD_ID:2298570 12386652 TFF1 trefoil factor 1 gene DOID:4001 ovarian carcinoma ISO RGD:1344671 D RGD:9068941 20200609 RGD PMID:9066601|REF_RGD_ID:2292004 12386652 TFF1 trefoil factor 1 gene DOID:630 genetic disease ISO RGD:1344671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386652 TFF1 trefoil factor 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1344671 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12386652 TFF1 trefoil factor 1 gene DOID:9001295 Achlorhydria ISO RGD:620707 D RGD:9068941 20200609 RGD protein:increased secretion:stomach PMID:11903739|REF_RGD_ID:2292010 12386652 TFF1 trefoil factor 1 gene DOID:9004610 Acute Lung Injury ISO RGD:1344671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19880587 12386652 TFF1 trefoil factor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1344671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21283680 12386652 TFF1 trefoil factor 1 gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:732017 D RGD:9068941 20200828 RGD mRNA:altered expression:gastric antrum (mouse) PMID:29085807|REF_RGD_ID:38549349 12386652 TFF1 trefoil factor 1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1344671 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:16267614|REF_RGD_ID:2292002 12386652 TFF1 trefoil factor 1 gene DOID:9263 homocystinuria ISO RGD:1344671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12386652 TFF1 trefoil factor 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1344671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12386659 EIF3L eukaryotic translation initiation factor 3 subunit L gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1317885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12386659 EIF3L eukaryotic translation initiation factor 3 subunit L gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1317885 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12386659 EIF3L eukaryotic translation initiation factor 3 subunit L gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1317885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12386659 EIF3L eukaryotic translation initiation factor 3 subunit L gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1317885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12386659 EIF3L eukaryotic translation initiation factor 3 subunit L gene DOID:630 genetic disease ISO RGD:1317885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386676 VRK2 VRK serine/threonine kinase 2 gene DOID:0111082 Fanconi anemia complementation group L ISO RGD:1323120 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group L PMID:19405097|PMID:21279724|PMID:25741868|PMID:26822237|PMID:26822949|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:30306255|PMID:32235514 12386676 VRK2 VRK serine/threonine kinase 2 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1323120 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:19405097|PMID:21279724|PMID:25741868|PMID:26822237|PMID:26822949|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:30306255|PMID:32235514 12386676 VRK2 VRK serine/threonine kinase 2 gene DOID:13636 Fanconi anemia ISO RGD:1323120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:12973351|PMID:17938197|PMID:19111657|PMID:19405097|PMID:21279724|PMID:23613520|PMID:24389026|PMID:25741868|PMID:26149689|PMID:26822237|PMID:26822949|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:30306255|PMID:32235514 12386676 VRK2 VRK serine/threonine kinase 2 gene DOID:1826 epilepsy ISO RGD:1323120 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12386676 VRK2 VRK serine/threonine kinase 2 gene DOID:630 genetic disease ISO RGD:1323120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386694 MYH7B myosin heavy chain 7B gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 12386694 MYH7B myosin heavy chain 7B gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868 12386694 MYH7B myosin heavy chain 7B gene DOID:2843 long QT syndrome ISO RGD:1317507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12386694 MYH7B myosin heavy chain 7B gene DOID:630 genetic disease ISO RGD:1317507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12386694 MYH7B myosin heavy chain 7B gene DOID:9006836 Contracture ISO RGD:1317507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures PMID:26752647|PMID:28492532 12386694 MYH7B myosin heavy chain 7B gene DOID:9007661 Dwarfism ISO RGD:1317507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12386741 UBXN2B UBX domain protein 2B gene DOID:630 genetic disease ISO RGD:2299012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386753 GLDN gliomedin gene DOID:0080600 COVID-19 ISO RGD:1344164 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12386753 GLDN gliomedin gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1344164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12386753 GLDN gliomedin gene DOID:2717 Bloom syndrome ISO RGD:1344164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12386753 GLDN gliomedin gene DOID:607 paraplegia ISO RGD:1344164 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 12386753 GLDN gliomedin gene DOID:630 genetic disease ISO RGD:1344164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12386753 GLDN gliomedin gene DOID:8488 polyhydramnios ISO RGD:1344164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:25741868|PMID:27616481|PMID:28726266|PMID:31680349 12386753 GLDN gliomedin gene DOID:9000943 Lethal Congenital Contracture Syndrome 11 ISO RGD:1344164 D RGD:7240710 20190315 OMIM 12386753 GLDN gliomedin gene DOID:9000943 Lethal Congenital Contracture Syndrome 11 ISO RGD:1344164 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 11 PMID:25741868|PMID:27616481|PMID:28726266|PMID:31680123|PMID:31680349|PMID:32860008 12386753 GLDN gliomedin gene DOID:9006836 Contracture ISO RGD:1344164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures PMID:25741868|PMID:28726266 12386753 GLDN gliomedin gene DOID:9256 colorectal cancer ISO RGD:1344164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12386766 TSPAN5 tetraspanin 5 gene DOID:10283 prostate cancer ISO RGD:1602132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12386766 TSPAN5 tetraspanin 5 gene DOID:630 genetic disease ISO RGD:1602132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386781 PSAP prosaposin gene DOID:0050439 Usher syndrome ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 12386781 PSAP prosaposin gene DOID:0060892 late onset Parkinson's disease ISO RGD:736284 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Parkinson disease 24, autosomal dominant, susceptibility to | ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:17576681|PMID:25741868|PMID:28492532|PMID:30632081|PMID:31319425|PMID:32180488|PMID:32201884|PMID:33402667|PMID:9536098 12386781 PSAP prosaposin gene DOID:0060892 late onset Parkinson's disease susceptibility ISO RGD:736284 D RGD:7240710 20230517 OMIM 12386781 PSAP prosaposin gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:28492532 12386781 PSAP prosaposin gene DOID:0110826 Usher syndrome type 1 ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 12386781 PSAP prosaposin gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:18429043|PMID:24033266|PMID:25741868|PMID:28492532 12386781 PSAP prosaposin gene DOID:0110831 Usher syndrome type 1D ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1D PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 12386781 PSAP prosaposin gene DOID:0110961 atypical Gaucher's disease due to saposin C deficiency ISO RGD:736284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency PMID:11309366|PMID:1371116|PMID:15856305|PMID:16199547|PMID:17576681|PMID:17616409|PMID:19267410|PMID:20484222|PMID:25741868|PMID:2615292|PMID:26822237|PMID:28457694|PMID:28492532|PMID:30632081|PMID:31319425|PMID:32180488|PMID:6256275|PMID:8460394|PMID:8554069|PMID:9536098 12386781 PSAP prosaposin gene DOID:0110961 atypical Gaucher's disease due to saposin C deficiency susceptibility ISO RGD:736284 D RGD:7240710 20230517 OMIM 12386781 PSAP prosaposin gene DOID:0111330 combined saposin deficiency ISO RGD:736284 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency PMID:10196694|PMID:10682309|PMID:11309366|PMID:1350885|PMID:1371116|PMID:15773042|PMID:16199547|PMID:17561962|PMID:17576681|PMID:17616409|PMID:17919309|PMID:18429043|PMID:18693274|PMID:19267410|PMID:19955343|PMID:2019586|PMID:20484222|PMID:2302219|PMID:2320574|PMID:24033266|PMID:24416283|PMID:24925315|PMID:25640679|PMID:25741868|PMID:25991456|PMID:26462614|PMID:26822237|PMID:26831127|PMID:28457694|PMID:28492532|PMID:30037697|PMID:30632081|PMID:31319425|PMID:32180488|PMID:33402667|PMID:8554069|PMID:9536098 12386781 PSAP prosaposin gene DOID:0111330 combined saposin deficiency susceptibility ISO RGD:736284 D RGD:7240710 20230517 OMIM 12386781 PSAP prosaposin gene DOID:10581 metachromatic leukodystrophy ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10196694|PMID:1371116|PMID:17576681|PMID:17616409|PMID:18429043|PMID:18693274|PMID:20484222|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:26462614|PMID:28492532|PMID:9536098 12386781 PSAP prosaposin gene DOID:10581 metachromatic leukodystrophy ISO RGD:736284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10196694|PMID:1371116|PMID:17576681|PMID:17616409|PMID:18429043|PMID:18693274|PMID:20484222|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:26462614|PMID:28492532|PMID:30632081|PMID:31319425|PMID:32180488|PMID:9536098 12386781 PSAP prosaposin gene DOID:10587 Krabbe disease ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 12386781 PSAP prosaposin gene DOID:630 genetic disease ISO RGD:736284 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1350885|PMID:17576681|PMID:2302219|PMID:2320574|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31439510|PMID:9536098 12386781 PSAP prosaposin gene DOID:9001061 Atypical Krabbe Disease due to Saposin A Deficiency ISO RGD:736284 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency | ClinVar Annotator: match by term: Saposin A Deficiency PMID:15773042|PMID:17576681|PMID:25741868|PMID:26822237|PMID:28492532|PMID:29995202|PMID:30632081|PMID:31319425|PMID:31439510|PMID:32180488|PMID:9536098 12386781 PSAP prosaposin gene DOID:9001061 Atypical Krabbe Disease due to Saposin A Deficiency susceptibility ISO RGD:736284 D RGD:7240710 20230517 OMIM 12386781 PSAP prosaposin gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 12386781 PSAP prosaposin gene DOID:9004538 Hearing Loss ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:18429043|PMID:24033266|PMID:25741868|PMID:28492532 12386781 PSAP prosaposin gene DOID:9004615 Metachromatic Leukodystrophy due to Saposin B Deficiency ISO RGD:736284 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency PMID:11309366|PMID:1371116|PMID:15773042|PMID:16199547|PMID:17576681|PMID:17616409|PMID:19267410|PMID:19955343|PMID:2019586|PMID:20484222|PMID:25741868|PMID:26822237|PMID:28457694|PMID:28492532|PMID:30632081|PMID:31319425|PMID:32180488|PMID:8554069|PMID:9536098 12386781 PSAP prosaposin gene DOID:9004615 Metachromatic Leukodystrophy due to Saposin B Deficiency susceptibility ISO RGD:736284 D RGD:7240710 20230517 OMIM 12386809 SRCAP Snf2 related CREBBP activator protein gene DOID:0060041 autism spectrum disorder ISO RGD:1606024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 12386809 SRCAP Snf2 related CREBBP activator protein gene DOID:0070303 multiple epiphyseal dysplasia 1 ISO RGD:1606024 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1 PMID:25741868 12386809 SRCAP Snf2 related CREBBP activator protein gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1606024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12386809 SRCAP Snf2 related CREBBP activator protein gene DOID:0080726 Ehlers-Danlos syndrome classic type 2 ISO RGD:1606024 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 PMID:25741868 12386809 SRCAP Snf2 related CREBBP activator protein gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1606024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12386809 SRCAP Snf2 related CREBBP activator protein gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1606024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 12386809 SRCAP Snf2 related CREBBP activator protein gene DOID:0111358 Floating-Harbor syndrome ISO RGD:1606024 D RGD:7240710 20180130 OMIM 12386809 SRCAP Snf2 related CREBBP activator protein gene DOID:0111358 Floating-Harbor syndrome ISO RGD:1606024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Floating-Harbor syndrome | ClinVar Annotator: match by term: Pelletier-Leisti syndrome PMID:11522779|PMID:11746027|PMID:17576681|PMID:18414213|PMID:20358590|PMID:22265015|PMID:22965468|PMID:23165645|PMID:23193612|PMID:23621943|PMID:23763483|PMID:24970356|PMID:25326637|PMID:25433523|PMID:25590979|PMID:25741868|PMID:26788936|PMID:28492532|PMID:31200758|PMID:33909990|PMID:9536098 12386809 SRCAP Snf2 related CREBBP activator protein gene DOID:1059 intellectual disability ISO RGD:1606024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate PMID:25741868|PMID:32581362 12386809 SRCAP Snf2 related CREBBP activator protein gene DOID:10907 microcephaly ISO RGD:1606024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12386809 SRCAP Snf2 related CREBBP activator protein gene DOID:630 genetic disease ISO RGD:1606024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11522779|PMID:18414213|PMID:20358590|PMID:22265015|PMID:22965468|PMID:23165645|PMID:23193612|PMID:23621943|PMID:24970356|PMID:25326637|PMID:25433523|PMID:25590979|PMID:25741868|PMID:26788936|PMID:28166811|PMID:28492532|PMID:31200758|PMID:33408077|PMID:33909990 12386809 SRCAP Snf2 related CREBBP activator protein gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:1606024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 12386809 SRCAP Snf2 related CREBBP activator protein gene DOID:9004230 DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES ISO RGD:1606024 D RGD:7240710 20220209 OMIM 12386809 SRCAP Snf2 related CREBBP activator protein gene DOID:9004230 DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES ISO RGD:1606024 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities PMID:25741868|PMID:28492532|PMID:33909990 12386809 SRCAP Snf2 related CREBBP activator protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:33909990 12386809 SRCAP Snf2 related CREBBP activator protein gene DOID:9008582 Developmental Disease ISO RGD:1606024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:0060041 autism spectrum disorder ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18252227|PMID:20844286 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:0080600 COVID-19 ISO RGD:731730 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:10283 prostate cancer ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:10487 Hirschsprung's disease ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:1059 intellectual disability ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:1227 neutropenia ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12562666 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:12849 autistic disorder ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic disorder of childhood onset PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:14218 dihydropyrimidine dehydrogenase deficiency ISO RGD:731730 D RGD:7240710 20180130 OMIM 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:14218 dihydropyrimidine dehydrogenase deficiency ISO RGD:731730 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: 5-fluorouracil toxicity | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar Annotator: match by term: Hereditary Thymine-Uraciluria | ClinVar Annotator: match by term: Pyrimidinemia familial PMID:10071185|PMID:10657402|PMID:10671643|PMID:10803677|PMID:11156223|PMID:11179210|PMID:11350878|PMID:11555601|PMID:11783493|PMID:11875367|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12164772|PMID:12209976|PMID:12360106|PMID:12562666|PMID:12851836|PMID:12885330|PMID:12912951|PMID:14635116|PMID:15017333|PMID:15102667|PMID:15132136|PMID:15571261|PMID:15591715|PMID:15858133|PMID:15890268|PMID:15899693|PMID:16033824|PMID:16115930|PMID:16151913|PMID:16361556|PMID:1648430|PMID:16719540|PMID:17000684|PMID:17000685|PMID:17046731|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17417073|PMID:17563256|PMID:17700593|PMID:17828463|PMID:17848752|PMID:17876700|PMID:17905396|PMID:18006695|PMID:18299612|PMID:18443386|PMID:18452418|PMID:18600527|PMID:18600544|PMID:18619742|PMID:18937829|PMID:19104657|PMID:19287123|PMID:19288105|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19822137|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20530282|PMID:20647221|PMID:20803296|PMID:20809970|PMID:20819423|PMID:20920994|PMID:20981092|PMID:21077799|PMID:21114665|PMID:21228398|PMID:21410976|PMID:21412232|PMID:21420945|PMID:21498394|PMID:21590448|PMID:21723269|PMID:21833589|PMID:21878539|PMID:21919607|PMID:22339448|PMID:22353294|PMID:22490566|PMID:22992668|PMID:22995991|PMID:23042115|PMID:23139054|PMID:23199091|PMID:23238479|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23517808|PMID:23585145|PMID:23588312|PMID:23596069|PMID:23603345|PMID:23736036|PMID:23781135|PMID:23930673|PMID:23942539|PMID:23960437|PMID:23988873|PMID:24037119|PMID:24107927|PMID:24167597|PMID:24310106|PMID:24326041|PMID:24388031|PMID:24434920|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:24943064|PMID:25087612|PMID:25110414|PMID:25117664|PMID:25381393|PMID:25410891|PMID:25420024|PMID:25565930|PMID:25590979|PMID:25677447|PMID:25741868|PMID:25782327|PMID:25826134|PMID:26099996|PMID:26216193|PMID:26254383|PMID:26265035|PMID:26265346|PMID:26330892|PMID:26467025|PMID:26505400|PMID:26551538|PMID:26603945|PMID:26621101|PMID:26623034|PMID:26651493|PMID:26658227|PMID:26716401|PMID:26792652|PMID:26794347|PMID:26804235|PMID:26804652|PMID:26846104|PMID:26894782|PMID:26967565|PMID:27122156|PMID:27248859|PMID:27281625|PMID:27454530|PMID:27544765|PMID:27701067|PMID:27727460|PMID:27738344|PMID:27752409|PMID:27864592|PMID:27884173|PMID:27995989|PMID:28024938|PMID:28027897|PMID:28112993|PMID:28128059|PMID:28237406|PMID:28262261|PMID:28295243|PMID:28395758|PMID:28427087|PMID:28481884|PMID:28492532|PMID:28572524|PMID:28614820|PMID:28745575|PMID:28929491|PMID:28950804|PMID:29045550|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29236957|PMID:29239269|PMID:29327356|PMID:29769267|PMID:29778030|PMID:29846282|PMID:29889674|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30349988|PMID:30485432|PMID:30510603|PMID:30723313|PMID:30775324|PMID:30858516|PMID:30898145|PMID:30945278|PMID:31382864|PMID:31486738|PMID:31589614|PMID:31745289|PMID:32378051|PMID:32529295|PMID:32595208|PMID:32619063|PMID:32707991|PMID:32899374|PMID:32973300|PMID:33232506|PMID:33410339|PMID:33620159|PMID:33965356|PMID:34055682|PMID:34916829|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9010022|PMID:9254861|PMID:9266349|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374|PMID:9721209|PMID:9865912 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:1793 pancreatic cancer ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17443278|PMID:19020767 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:1793 pancreatic cancer ISO RGD:731730 D RGD:9068941 20200609 RGD PMID:18309485|REF_RGD_ID:2317630 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:1793 pancreatic cancer disease_progression ISO RGD:731730 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:20072795|REF_RGD_ID:2317629 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:1826 epilepsy ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:3121 gallbladder cancer disease_progression ISO RGD:731730 D RGD:9068941 20200609 RGD PMID:16619549|REF_RGD_ID:2317631 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:409 liver disease ISO RGD:621218 D RGD:9068941 20200609 RGD mRNA, Protein:increased expression PMID:10348793|REF_RGD_ID:1599789 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:5419 schizophrenia ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266|PMID:23042115 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:574 peripheral nervous system disease ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:630 genetic disease ISO RGD:731730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11156223|PMID:11988088|PMID:12912951|PMID:14635116|PMID:16033824|PMID:16115930|PMID:17064846|PMID:17121937|PMID:17700593|PMID:17828463|PMID:17876700|PMID:18299612|PMID:19104657|PMID:19287123|PMID:19288105|PMID:19473056|PMID:19795123|PMID:20819423|PMID:21077799|PMID:21410976|PMID:21420945|PMID:21498394|PMID:21833589|PMID:21919607|PMID:22992668|PMID:23588312|PMID:23596069|PMID:23603345|PMID:23736036|PMID:23930673|PMID:23960437|PMID:23988873|PMID:24167597|PMID:24326041|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26254383|PMID:26265035|PMID:26265346|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:27122156|PMID:27454530|PMID:27727460|PMID:27995989|PMID:28295243|PMID:28427087|PMID:28481884|PMID:28492532|PMID:29065426|PMID:29152729|PMID:29327356|PMID:29769267|PMID:29846282|PMID:29889674|PMID:29998006|PMID:30114658|PMID:30485432|PMID:30510603|PMID:30723313|PMID:30858516|PMID:31486738|PMID:31745289|PMID:32529295|PMID:32595208|PMID:32707991|PMID:33232506 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:653 purine-pyrimidine metabolic disorder ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15571261|PMID:3335642 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:684 hepatocellular carcinoma ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18019677 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:863 nervous system disease ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16435204 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9000217 Stomach Neoplasms ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15837757|PMID:17089033|PMID:18652704 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9000965 Neoplasm Metastasis ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17611699 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:731730 D RGD:9068941 20200609 RGD associated with Colonic Neoplasms PMID:11383214|REF_RGD_ID:11251755 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9002704 Leukoencephalopathies ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11148247 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9002775 Cognitive Dysfunction ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9002928 Colonic Neoplasms ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18652704 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9004278 Sarcoma, Yoshida treatment ISO RGD:621218 D RGD:9068941 20200609 RGD PMID:8138551|REF_RGD_ID:11251753 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9004286 Hirschsprung Disease 1 ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung disease 1 PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9004486 Drug-induced Neutropenia no_association ISO RGD:731730 D RGD:9068941 20200609 RGD associated with Neoplasms;DNA:missense mutations: :multiple PMID:19473056|REF_RGD_ID:11098817 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:731730 D RGD:9068941 20200609 RGD DNA:splice-site mutation, missense mutations: :multiple PMID:11156223|REF_RGD_ID:11251738 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:731730 D RGD:9068941 20200609 RGD associated with Colorectal Neoplasms;DNA:SNPs: :rs1801159 (1896T>C), rs17376848 (human) PMID:23942539|REF_RGD_ID:11251737 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:731730 D RGD:9068941 20200609 RGD associated with Neoplasms;DNA:missense mutation: :p.M166V (496A>G) (human) PMID:19473056|REF_RGD_ID:11098817 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:731730 D RGD:9068941 20200609 RGD associated with Neoplasms;DNA:splice-site mutation:intron:IVS14+1G>A (human) PMID:12209976|REF_RGD_ID:11251736 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9004593 Drug-Induced Immune Thrombocytopenia treatment ISO RGD:731730 D RGD:9068941 20200609 RGD associated with Neoplasms;DNA:SNP:intron:IVS14+1G>A (human) PMID:19473056|REF_RGD_ID:11098817 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9004593 Drug-Induced Immune Thrombocytopenia treatment ISO RGD:731730 D RGD:9068941 20200609 RGD associated with Stomach Neoplasms PMID:23064955|REF_RGD_ID:11251740 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9005078 Congenital Macroglossia ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giant tongue PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9005172 Lung Neoplasms ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19020767 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9005466 Language Development Disorders ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21114665 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9006169 Head and Neck Neoplasms ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19020767 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731730 D RGD:9068941 20220616 RGD DNA:SNP:cds:rs12119882 (human) PMID:28347776|REF_RGD_ID:152995291 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9007478 Malocclusion, Angle Class III ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hapsburg jaw PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9007817 Macroglossia ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macroglossia PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9008086 Developmental Disabilities ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9008443 Colorectal Neoplasms ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15222106|PMID:15814641|PMID:17047489|PMID:17611699|PMID:19020767 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9008589 Hallux Valgus ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hallux valgus PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9008939 Breast Neoplasms ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19020767 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9256 colorectal cancer ISO RGD:621218 D RGD:9068941 20200609 RGD protein:increased activity:liver PMID:23197286|REF_RGD_ID:11251746 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:731730 D RGD:9068941 20200609 RGD DNA:SNP: :85T>C (human) PMID:26846104|REF_RGD_ID:11098453 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:731730 D RGD:9068941 20200609 RGD DNA:splice-site mutation:intron:IVS14+1G>A (human) PMID:26846104|REF_RGD_ID:11098453 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:731730 D RGD:9068941 20200609 RGD DNA:SNPs: :2194G>A, 1156G>T (human) PMID:26846104|REF_RGD_ID:11098453 12386848 DPYD dihydropyrimidine dehydrogenase gene DOID:9970 obesity ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12386875 BCOR BCL6 corepressor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12386875 BCOR BCL6 corepressor gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1606540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 12386875 BCOR BCL6 corepressor gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1606540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 12386875 BCOR BCL6 corepressor gene DOID:0070338 cerebellar hypoplasia ISO RGD:1606540 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868 12386875 BCOR BCL6 corepressor gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1606540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 12386875 BCOR BCL6 corepressor gene DOID:0111799 syndromic microphthalmia 1 ISO RGD:1606540 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microphthalmia, syndromic 1 PMID:24728327|PMID:25741868|PMID:28492532 12386875 BCOR BCL6 corepressor gene DOID:0111809 syndromic microphthalmia 2 ISO RGD:1606540 D RGD:7240710 20180130 OMIM 12386875 BCOR BCL6 corepressor gene DOID:0111809 syndromic microphthalmia 2 ISO RGD:1606540 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oculofaciocardiodental syndrome PMID:15004558|PMID:15770227|PMID:16199547|PMID:16829040|PMID:18414213|PMID:19367324|PMID:21740180|PMID:22983184|PMID:23815237|PMID:24728327|PMID:25326637|PMID:25620158|PMID:25741868|PMID:26694549|PMID:28166811|PMID:28317252|PMID:28492532|PMID:29974297|PMID:31048080 12386875 BCOR BCL6 corepressor gene DOID:10534 stomach cancer disease_progression ISO RGD:1606540 D RGD:9068941 20210903 RGD PMID:33145269|REF_RGD_ID:150340707 12386875 BCOR BCL6 corepressor gene DOID:1059 intellectual disability ISO RGD:1606540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12386875 BCOR BCL6 corepressor gene DOID:12849 autistic disorder ISO RGD:1606540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12386875 BCOR BCL6 corepressor gene DOID:13207 proliferative diabetic retinopathy susceptibility ISO RGD:1606540 D RGD:9068941 20221103 RGD associated with type 1 diabetes mellitus;DNA:hypomethylation:5'UTR PMID:26248552|REF_RGD_ID:155631276 12386875 BCOR BCL6 corepressor gene DOID:2154 nephroblastoma ISO RGD:1606540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 12386875 BCOR BCL6 corepressor gene DOID:216 dental caries susceptibility ISO RGD:1606540 D RGD:9068941 20221028 RGD DNA:SNP: : rs17145638(human) PMID:23470693|REF_RGD_ID:155631274 12386875 BCOR BCL6 corepressor gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1606540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29376028 12386875 BCOR BCL6 corepressor gene DOID:3347 osteosarcoma ISO RGD:1606540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22387997 12386875 BCOR BCL6 corepressor gene DOID:4233 clear cell sarcoma ISO RGD:1606540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098867 12386875 BCOR BCL6 corepressor gene DOID:5517 stomach carcinoma disease_progression ISO RGD:1606540 D RGD:9068941 20210903 RGD PMID:27313181|REF_RGD_ID:150340706 12386875 BCOR BCL6 corepressor gene DOID:630 genetic disease ISO RGD:1606540 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24728327|PMID:25741868|PMID:26694549|PMID:28492532 12386875 BCOR BCL6 corepressor gene DOID:83 cataract ISO RGD:1606540 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:24728327|PMID:26694549|PMID:28492532 12386875 BCOR BCL6 corepressor gene DOID:9002265 Kidney Neoplasms ISO RGD:1606540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098867 12386875 BCOR BCL6 corepressor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12386875 BCOR BCL6 corepressor gene DOID:9119 acute myeloid leukemia ISO RGD:1606540 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 12386875 BCOR BCL6 corepressor gene DOID:9256 colorectal cancer treatment ISO RGD:1606540 D RGD:9068941 20210903 RGD PMID:27880939|REF_RGD_ID:150340704 12386875 BCOR BCL6 corepressor gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1606540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 12386912 PTGDR2 prostaglandin D2 receptor 2 gene DOID:0080600 COVID-19 ISO RGD:1323730 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12386912 PTGDR2 prostaglandin D2 receptor 2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1323730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 12386912 PTGDR2 prostaglandin D2 receptor 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12386912 PTGDR2 prostaglandin D2 receptor 2 gene DOID:1059 intellectual disability ISO RGD:1323730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12386912 PTGDR2 prostaglandin D2 receptor 2 gene DOID:1485 cystic fibrosis ISO RGD:1323730 D RGD:9068941 20200609 RGD PMID:18334635|REF_RGD_ID:5135022 12386912 PTGDR2 prostaglandin D2 receptor 2 gene DOID:2841 asthma ISO RGD:1323730 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27103662 12386912 PTGDR2 prostaglandin D2 receptor 2 gene DOID:2841 asthma ISO RGD:1323730 D RGD:9068941 20200609 RGD PMID:19392992|REF_RGD_ID:5135019 12386912 PTGDR2 prostaglandin D2 receptor 2 gene DOID:2841 asthma ISO RGD:1323730 D RGD:9068941 20200609 RGD Aspirin exacerbated asthma PMID:19796209|REF_RGD_ID:5135020 12386912 PTGDR2 prostaglandin D2 receptor 2 gene DOID:2841 asthma ISO RGD:1323731 D RGD:9068941 20200609 RGD PMID:18757520|REF_RGD_ID:5135018 12386912 PTGDR2 prostaglandin D2 receptor 2 gene DOID:4483 rhinitis ISO RGD:1323730 D RGD:9068941 20200609 RGD PMID:19230460|REF_RGD_ID:5135021 12386912 PTGDR2 prostaglandin D2 receptor 2 gene DOID:4483 rhinitis ISO RGD:1323731 D RGD:9068941 20200609 RGD PMID:19608418|REF_RGD_ID:5135017 12386912 PTGDR2 prostaglandin D2 receptor 2 gene DOID:630 genetic disease ISO RGD:1323730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386912 PTGDR2 prostaglandin D2 receptor 2 gene DOID:9005372 Inflammation ISO RGD:1323731 D RGD:9068941 20200609 RGD PMID:21646789|REF_RGD_ID:5135015 12386925 EHD2 EH domain containing 2 gene DOID:630 genetic disease ISO RGD:1348695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386935 SPRY2 sprouty RTK signaling antagonist 2 gene DOID:0060340 ciliopathy ISO RGD:1322950 D RGD:9068941 20220825 MouseDO 12386935 SPRY2 sprouty RTK signaling antagonist 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1322949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12386935 SPRY2 sprouty RTK signaling antagonist 2 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1322950 D RGD:9068941 20220825 MouseDO OMIM:243180 | OMIM:601223 12386935 SPRY2 sprouty RTK signaling antagonist 2 gene DOID:0080600 COVID-19 ISO RGD:1322949 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12386935 SPRY2 sprouty RTK signaling antagonist 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:1322949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: IgA nephropathy, susceptibility to, 3 PMID:25741868|PMID:25741914|PMID:25782674 12386935 SPRY2 sprouty RTK signaling antagonist 2 gene DOID:2986 IgA glomerulonephritis susceptibility ISO RGD:1322949 D RGD:7240710 20190502 OMIM 12386935 SPRY2 sprouty RTK signaling antagonist 2 gene DOID:630 genetic disease ISO RGD:1322949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386935 SPRY2 sprouty RTK signaling antagonist 2 gene DOID:674 cleft palate ISO RGD:1322949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17576140 12386935 SPRY2 sprouty RTK signaling antagonist 2 gene DOID:850 lung disease ISO RGD:1322949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24210189 12386935 SPRY2 sprouty RTK signaling antagonist 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1322949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15136453 12386935 SPRY2 sprouty RTK signaling antagonist 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1322949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17576140 12386935 SPRY2 sprouty RTK signaling antagonist 2 gene DOID:9164 achalasia ISO RGD:1322950 D RGD:9068941 20220825 MouseDO OMIM:200400 12386935 SPRY2 sprouty RTK signaling antagonist 2 gene DOID:9296 cleft lip ISO RGD:1322949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17576140 12386941 RBBP8NL RBBP8 N-terminal like gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12386941 RBBP8NL RBBP8 N-terminal like gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1353930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12386941 RBBP8NL RBBP8 N-terminal like gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12386941 RBBP8NL RBBP8 N-terminal like gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1353930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12386941 RBBP8NL RBBP8 N-terminal like gene DOID:630 genetic disease ISO RGD:1353930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386960 NEIL2 nei like DNA glycosylase 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1323805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 12386960 NEIL2 nei like DNA glycosylase 2 gene DOID:630 genetic disease ISO RGD:1323805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386960 NEIL2 nei like DNA glycosylase 2 gene DOID:9002189 High Myopia ISO RGD:1323805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12386960 NEIL2 nei like DNA glycosylase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12386969 HES5 hes family bHLH transcription factor 5 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1353774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12386969 HES5 hes family bHLH transcription factor 5 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1353774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12386969 HES5 hes family bHLH transcription factor 5 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1353774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12386969 HES5 hes family bHLH transcription factor 5 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1353774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12386969 HES5 hes family bHLH transcription factor 5 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1353774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12386969 HES5 hes family bHLH transcription factor 5 gene DOID:0111934 immunodeficiency 38 ISO RGD:1353774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12386969 HES5 hes family bHLH transcription factor 5 gene DOID:0111935 immunodeficiency 16 ISO RGD:1353774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12386969 HES5 hes family bHLH transcription factor 5 gene DOID:630 genetic disease ISO RGD:1353774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386969 HES5 hes family bHLH transcription factor 5 gene DOID:863 nervous system disease ISO RGD:1353774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23203475 12386969 HES5 hes family bHLH transcription factor 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12386969 HES5 hes family bHLH transcription factor 5 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1353774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12386969 HES5 hes family bHLH transcription factor 5 gene DOID:9007502 Brain Neoplasms ISO RGD:1353774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 12386969 HES5 hes family bHLH transcription factor 5 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1353774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12386969 HES5 hes family bHLH transcription factor 5 gene DOID:9351 diabetes mellitus ISO RGD:621340 D RGD:9068941 20221110 RGD protein:increased expression:skin: PMID:30886104|REF_RGD_ID:155646129 12386976 ASPHD1 aspartate beta-hydroxylase domain containing 1 gene DOID:0060019 coronin-1A deficiency ISO RGD:1605839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12386976 ASPHD1 aspartate beta-hydroxylase domain containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1605839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12386976 ASPHD1 aspartate beta-hydroxylase domain containing 1 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1605839 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12386976 ASPHD1 aspartate beta-hydroxylase domain containing 1 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1605839 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12386976 ASPHD1 aspartate beta-hydroxylase domain containing 1 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1605839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12386976 ASPHD1 aspartate beta-hydroxylase domain containing 1 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1605839 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12386976 ASPHD1 aspartate beta-hydroxylase domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1605839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12386976 ASPHD1 aspartate beta-hydroxylase domain containing 1 gene DOID:1882 atrial heart septal defect ISO RGD:1605839 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12386976 ASPHD1 aspartate beta-hydroxylase domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1605839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12386976 ASPHD1 aspartate beta-hydroxylase domain containing 1 gene DOID:630 genetic disease ISO RGD:1605839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386976 ASPHD1 aspartate beta-hydroxylase domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12386976 ASPHD1 aspartate beta-hydroxylase domain containing 1 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1605839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12386976 ASPHD1 aspartate beta-hydroxylase domain containing 1 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1605839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12386988 LRR1 leucine rich repeat protein 1 gene DOID:630 genetic disease ISO RGD:1322717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12386988 LRR1 leucine rich repeat protein 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1322717 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12386988 LRR1 leucine rich repeat protein 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12387014 CHRM4 cholinergic receptor muscarinic 4 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:68976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12387014 CHRM4 cholinergic receptor muscarinic 4 gene DOID:1059 intellectual disability ISO RGD:68976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12387014 CHRM4 cholinergic receptor muscarinic 4 gene DOID:6000 congestive heart failure ISO RGD:2344 D RGD:9068941 20200609 RGD associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum PMID:16497176|REF_RGD_ID:1642301 12387014 CHRM4 cholinergic receptor muscarinic 4 gene DOID:630 genetic disease ISO RGD:68976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387014 CHRM4 cholinergic receptor muscarinic 4 gene DOID:9000495 Tremor ISO RGD:68976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9920179 12387014 CHRM4 cholinergic receptor muscarinic 4 gene DOID:9008086 Developmental Disabilities ISO RGD:68976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12387014 CHRM4 cholinergic receptor muscarinic 4 gene DOID:9008639 Catatonia ISO RGD:68976 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15273762 12387063 APOO apolipoprotein O gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12387063 APOO apolipoprotein O gene DOID:12849 autistic disorder ISO RGD:1603962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12387063 APOO apolipoprotein O gene DOID:3650 lactic acidosis ISO RGD:1603962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lactic acidosis 12387063 APOO apolipoprotein O gene DOID:630 genetic disease ISO RGD:1603962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387063 APOO apolipoprotein O gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12387103 OR6C6 olfactory receptor family 6 subfamily C member 6 gene DOID:630 genetic disease ISO RGD:1352413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387235 BAIAP2 BAR/IMD domain containing adaptor protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:732926 D RGD:9068941 20200609 RGD DNA:snp:intron:c.230-1933G>C (rs11657991) (human) PMID:20888579|REF_RGD_ID:11576292 12387235 BAIAP2 BAR/IMD domain containing adaptor protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:732927 D RGD:9068941 20200609 RGD mRNA:decreased expression:forebrain (mouse) PMID:25600067|REF_RGD_ID:11097581 12387235 BAIAP2 BAR/IMD domain containing adaptor protein 2 gene DOID:10652 Alzheimer's disease ISO RGD:732926 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex, postsynaptic density (human) PMID:23537733|REF_RGD_ID:11576299 12387235 BAIAP2 BAR/IMD domain containing adaptor protein 2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:732926 D RGD:9068941 20200609 RGD DNA:snps:introns:multiple (human) PMID:24377651|REF_RGD_ID:11576297 12387235 BAIAP2 BAR/IMD domain containing adaptor protein 2 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:732926 D RGD:9068941 20200609 RGD DNA:snps, haplotype:multiple (human) PMID:15303240|REF_RGD_ID:11576298 12387235 BAIAP2 BAR/IMD domain containing adaptor protein 2 gene DOID:630 genetic disease ISO RGD:732926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387235 BAIAP2 BAR/IMD domain containing adaptor protein 2 gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:619814 D RGD:9068941 20200609 RGD protein:increased expression:glomerular visceral epithelial cell PMID:17569780|REF_RGD_ID:9684990 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:0060072 benign neoplasm ISO RGD:735435 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R213H, 638G>A (human) PMID:16402077|REF_RGD_ID:1581451 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:735435 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:0080074 neural tube defect ISO RGD:735435 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:24307569 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:0080600 COVID-19 ISO RGD:735435 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:10283 prostate cancer ISO RGD:735435 D RGD:9068941 20200609 RGD DNA, protein:SNP, increased activity:CDS:SULT1A1*1 high activity allele associated with higher prostate cancer risk, risk increases with increased consumption of well-done meat PMID:14973106|REF_RGD_ID:1581454 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:10283 prostate cancer no_association ISO RGD:735435 D RGD:9068941 20200609 RGD DNA:SNP:CDS:no association with the 638G->A, amino acid R213H polymorphism in a Japanese population PMID:18368507|REF_RGD_ID:2301050 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:735435 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R213H (human) PMID:16137826|REF_RGD_ID:1581452 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:11054 urinary bladder cancer ISO RGD:735435 D RGD:9068941 20200609 RGD DNA:SNP:CDS:reduced risk associated with the His allele of the R213H polymorphism in women, particularly in those with no history of smoking PMID:14643027|REF_RGD_ID:1581442 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:1324 lung cancer ISO RGD:735435 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R213H, 638G>A (human) PMID:14688021|REF_RGD_ID:1581441 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:1380 endometrial cancer ISO RGD:735435 D RGD:9068941 20200609 RGD PMID:16985250|REF_RGD_ID:1581436 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:1612 breast cancer ISO RGD:735435 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R213H (human) PMID:16175316|REF_RGD_ID:1581438 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:735435 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R213H, 638G>A (human) PMID:12455060|REF_RGD_ID:1581448 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:735435 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R213H, 638G>A (human) PMID:14688021|REF_RGD_ID:1581441 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:3910 lung adenocarcinoma ISO RGD:735435 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R213H, 638G>A (human) PMID:14688021|REF_RGD_ID:1581441 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:5419 schizophrenia ISO RGD:735435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:630 genetic disease ISO RGD:735435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14973106 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:735435 D RGD:9068941 20200609 RGD DNA:SNP::reduced frequency of SULT1A1*2 A allele in patients PMID:18497059|REF_RGD_ID:2301045 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:9002801 Recurrence ISO RGD:735435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30120701 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:735435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:9002981 Genomic Instability ISO RGD:735435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28326452 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:9004643 Urologic Neoplasms ISO RGD:735435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18006944 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:9004643 Urologic Neoplasms ISO RGD:735435 D RGD:9068941 20200609 RGD Urothelial neoplasms; DNA:SNP:CDS:codon213, G/G genotype, risk increases with history of smoking and/or if combined with NQO1 C/T or T/T genotype PMID:17619904|REF_RGD_ID:2301044 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:9004814 Chromosome Aberrations ISO RGD:735435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16537716 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:9006024 Hypotension ISO RGD:3767 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:15942020|REF_RGD_ID:1625563 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:735435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:735435 D RGD:9068941 20200609 RGD DNA:SNP:CDS, 3'-UTR:rs9282861, rs6839 and rs1042157, alone or in combination with each other, also rs9282861 (GA + AA) combined with CYP1A1 SNP rs4646903 (TT) or with SULT1E1 SNP rs3736599 (GA+AA) PMID:18318428|REF_RGD_ID:2301040 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:9007715 Endometrial Neoplasms no_association ISO RGD:735435 D RGD:9068941 20200609 RGD DNA:SNP::no difference in allele distribution or genotype between patients and controls PMID:18497059|REF_RGD_ID:2301045 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:9008443 Colorectal Neoplasms onset ISO RGD:735435 D RGD:9068941 20200609 RGD PMID:11692076|REF_RGD_ID:1581449 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30120701 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735435 D RGD:9068941 20200609 RGD PMID:16328031|REF_RGD_ID:1581437 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735435 D RGD:9068941 20200609 RGD DNA:SNP:CDS:His allele 13.6% in patients vs 9.5% in controls (p=0.03) in a Chinese population PMID:16875543|REF_RGD_ID:2301046 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:735435 D RGD:9068941 20200609 RGD DNA:SNP:CDS:R213H associated with lymph node metastases (p=0.002) but not overall risk PMID:15377847|REF_RGD_ID:2301048 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:9008939 Breast Neoplasms no_association ISO RGD:735435 D RGD:9068941 20200609 RGD DNA:SNP::no association between any SULT1A1 genotypes and breast cancer risk in a Russian population PMID:16637266|REF_RGD_ID:2301047 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:9008939 Breast Neoplasms no_association ISO RGD:735435 D RGD:9068941 20200609 RGD DNA:SNP:CDS:R213H allele frequency and genotype distributions the same in postmenopausal breast cancer patients and controls PMID:16080486|REF_RGD_ID:2301049 12387252 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 gene DOID:9008939 Breast Neoplasms onset ISO RGD:735435 D RGD:9068941 20200609 RGD DNA:SNP::SULT1A2*2 associated with age of onset in early-onset patients (p=0.021) PMID:12373301|REF_RGD_ID:2301051 12387270 VDAC1 voltage dependent anion channel 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732557 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12387270 VDAC1 voltage dependent anion channel 1 gene DOID:0080600 COVID-19 ISO RGD:732557 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12387270 VDAC1 voltage dependent anion channel 1 gene DOID:0080855 Parkinsonism ISO RGD:732557 D RGD:9068941 20200609 RGD PMID:24825319|REF_RGD_ID:13504672 12387270 VDAC1 voltage dependent anion channel 1 gene DOID:10283 prostate cancer ISO RGD:732557 D RGD:9068941 20200609 RGD DNA:SNP: :rs7250897 (human) PMID:28977864|REF_RGD_ID:13504673 12387270 VDAC1 voltage dependent anion channel 1 gene DOID:11832 visual epilepsy treatment ISO RGD:621575 D RGD:9068941 20200609 RGD PMID:17893921|REF_RGD_ID:10003051 12387270 VDAC1 voltage dependent anion channel 1 gene DOID:14330 Parkinson's disease ISO RGD:732557 D RGD:9068941 20200609 RGD PMID:24825319|REF_RGD_ID:13504672 12387270 VDAC1 voltage dependent anion channel 1 gene DOID:1826 epilepsy ISO RGD:732557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17893921 12387270 VDAC1 voltage dependent anion channel 1 gene DOID:5844 myocardial infarction ISO RGD:732557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25488258 12387270 VDAC1 voltage dependent anion channel 1 gene DOID:630 genetic disease ISO RGD:732557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387270 VDAC1 voltage dependent anion channel 1 gene DOID:699 mitochondrial myopathy ISO RGD:732557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8726225 12387270 VDAC1 voltage dependent anion channel 1 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:732557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25488258 12387270 VDAC1 voltage dependent anion channel 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:732557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19634143 12387270 VDAC1 voltage dependent anion channel 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12387270 VDAC1 voltage dependent anion channel 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621575 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:19634143|REF_RGD_ID:10003054 12387270 VDAC1 voltage dependent anion channel 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732557 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12387270 VDAC1 voltage dependent anion channel 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:732557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25488258 12387270 VDAC1 voltage dependent anion channel 1 gene DOID:9008514 Psychomotor Disorders ISO RGD:732557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8726225 12387282 SVEP1 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1350967 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:28492532 12387282 SVEP1 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 gene DOID:630 genetic disease ISO RGD:1350967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387337 KLC4 kinesin light chain 4 gene DOID:0050444 infantile Refsum disease ISO RGD:1315239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12387337 KLC4 kinesin light chain 4 gene DOID:630 genetic disease ISO RGD:1315239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387337 KLC4 kinesin light chain 4 gene DOID:905 Zellweger syndrome ISO RGD:1315239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12387370 NOP53 NOP53 ribosome biogenesis factor gene DOID:11612 polycystic ovary syndrome ISO RGD:1353107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12387370 NOP53 NOP53 ribosome biogenesis factor gene DOID:630 genetic disease ISO RGD:1353107 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387389 KLHL12 kelch like family member 12 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1346633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12387389 KLHL12 kelch like family member 12 gene DOID:1540 parathyroid carcinoma ISO RGD:1346633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12387389 KLHL12 kelch like family member 12 gene DOID:630 genetic disease ISO RGD:1346633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387389 KLHL12 kelch like family member 12 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1346633 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12387389 KLHL12 kelch like family member 12 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12387408 ACBD6 acyl-CoA binding domain containing 6 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1312817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12387408 ACBD6 acyl-CoA binding domain containing 6 gene DOID:1059 intellectual disability ISO RGD:1312817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12387408 ACBD6 acyl-CoA binding domain containing 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1312817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12387408 ACBD6 acyl-CoA binding domain containing 6 gene DOID:630 genetic disease ISO RGD:1312817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12387408 ACBD6 acyl-CoA binding domain containing 6 gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:1312817 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 1 PMID:25741868 12387408 ACBD6 acyl-CoA binding domain containing 6 gene DOID:9005891 Combined Pituitary Hormone Deficiency, 6 ISO RGD:1312817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant PMID:28492532 12387408 ACBD6 acyl-CoA binding domain containing 6 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1312817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12387408 ACBD6 acyl-CoA binding domain containing 6 gene DOID:9008403 Combined Pituitary Hormone Deficiency 4 ISO RGD:1312817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects | ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica PMID:11567216|PMID:17201807|PMID:17527005|PMID:18073311|PMID:18445675|PMID:20534763|PMID:23990694|PMID:24033266|PMID:25741868|PMID:25910213|PMID:27820671|PMID:28492532 12387408 ACBD6 acyl-CoA binding domain containing 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12387446 RALGPS2 Ral GEF with PH domain and SH3 binding motif 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1323046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12387446 RALGPS2 Ral GEF with PH domain and SH3 binding motif 2 gene DOID:630 genetic disease ISO RGD:1323046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387446 RALGPS2 Ral GEF with PH domain and SH3 binding motif 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1323046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12387446 RALGPS2 Ral GEF with PH domain and SH3 binding motif 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12387486 RIBC1 RIB43A domain with coiled-coils 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12387486 RIBC1 RIB43A domain with coiled-coils 1 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1344064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 12387486 RIBC1 RIB43A domain with coiled-coils 1 gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:1344064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 PMID:26059843|PMID:28492532 12387486 RIBC1 RIB43A domain with coiled-coils 1 gene DOID:12849 autistic disorder ISO RGD:1344064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12387486 RIBC1 RIB43A domain with coiled-coils 1 gene DOID:607 paraplegia ISO RGD:1344064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12387486 RIBC1 RIB43A domain with coiled-coils 1 gene DOID:630 genetic disease ISO RGD:1344064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387486 RIBC1 RIB43A domain with coiled-coils 1 gene DOID:9004603 Atkin Syndrome ISO RGD:1344064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome PMID:26059843|PMID:28492532 12387508 NAGA alpha-N-acetylgalactosaminidase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1314403 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12387508 NAGA alpha-N-acetylgalactosaminidase gene DOID:0080600 COVID-19 ISO RGD:1314403 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12387508 NAGA alpha-N-acetylgalactosaminidase gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1314403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 12387508 NAGA alpha-N-acetylgalactosaminidase gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1314403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12387508 NAGA alpha-N-acetylgalactosaminidase gene DOID:0112317 Schindler disease ISO RGD:1314403 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency PMID:11251574|PMID:1131374|PMID:11313741|PMID:1313741|PMID:14685826|PMID:17171432|PMID:19683538|PMID:2122121|PMID:2243144|PMID:23045655|PMID:2372288|PMID:24033266|PMID:25741868|PMID:27138754|PMID:2733734|PMID:28492532|PMID:2889023|PMID:29431110|PMID:30487145|PMID:3149698|PMID:31980526|PMID:32860008|PMID:7707696|PMID:8040340|PMID:8071745|PMID:8782044 12387508 NAGA alpha-N-acetylgalactosaminidase gene DOID:0112318 Schindler disease type 1 ISO RGD:1314403 D RGD:7240710 20180130 OMIM 12387508 NAGA alpha-N-acetylgalactosaminidase gene DOID:0112318 Schindler disease type 1 ISO RGD:1314403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 1 PMID:11251574|PMID:1131374|PMID:11313741|PMID:1313741|PMID:14685826|PMID:16199547|PMID:17171432|PMID:17576681|PMID:18414213|PMID:19683538|PMID:19763152|PMID:20307669|PMID:2122121|PMID:22406018|PMID:2243144|PMID:23045655|PMID:2372288|PMID:24033266|PMID:24767253|PMID:25741868|PMID:27138754|PMID:2733734|PMID:28252636|PMID:28492532|PMID:2889023|PMID:29431110|PMID:30487145|PMID:3149698|PMID:31980526|PMID:32860008|PMID:7707696|PMID:8040340|PMID:8071745|PMID:8782044|PMID:9536098 12387508 NAGA alpha-N-acetylgalactosaminidase gene DOID:0112319 Kanzaki disease ISO RGD:1314403 D RGD:7240710 20211013 OMIM 12387508 NAGA alpha-N-acetylgalactosaminidase gene DOID:0112319 Kanzaki disease ISO RGD:1314403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 2 | ClinVar Annotator: match by term: Schindler disease type 2 PMID:11251574|PMID:1131374|PMID:11313741|PMID:1313741|PMID:14685826|PMID:15619430|PMID:16199547|PMID:17171432|PMID:18414213|PMID:19683538|PMID:2122121|PMID:2243144|PMID:23045655|PMID:2372288|PMID:24033266|PMID:24767253|PMID:2564952|PMID:25741868|PMID:27138754|PMID:2733734|PMID:28252636|PMID:28492532|PMID:2889023|PMID:29431110|PMID:30487145|PMID:3149698|PMID:31980526|PMID:32860008|PMID:7707696|PMID:8040340|PMID:8071745|PMID:8782044 12387508 NAGA alpha-N-acetylgalactosaminidase gene DOID:0112320 Schindler disease type 3 ISO RGD:1314403 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 3 PMID:11251574|PMID:11313741|PMID:23045655|PMID:2372288|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31980526|PMID:8071745|PMID:8782044 12387508 NAGA alpha-N-acetylgalactosaminidase gene DOID:1059 intellectual disability ISO RGD:1314403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12387508 NAGA alpha-N-acetylgalactosaminidase gene DOID:2367 neuroaxonal dystrophy ISO RGD:1314403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2243144 12387508 NAGA alpha-N-acetylgalactosaminidase gene DOID:2367 neuroaxonal dystrophy ISO RGD:1314403 D RGD:9068941 20200609 RGD Schindler disease, OMIM:609241, DNA:point mutation:exon:E325K PMID:2243144|REF_RGD_ID:1600557 12387508 NAGA alpha-N-acetylgalactosaminidase gene DOID:479 angiokeratoma ISO RGD:1314403 D RGD:9068941 20200609 RGD Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W PMID:8040340|REF_RGD_ID:1600558 12387508 NAGA alpha-N-acetylgalactosaminidase gene DOID:630 genetic disease ISO RGD:1314403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24767253|PMID:25741868|PMID:28252636|PMID:28492532 12387508 NAGA alpha-N-acetylgalactosaminidase gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1314403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 12387528 ELFN2 extracellular leucine rich repeat and fibronectin type III domain containing 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1606182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12387528 ELFN2 extracellular leucine rich repeat and fibronectin type III domain containing 2 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1606182 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12387528 ELFN2 extracellular leucine rich repeat and fibronectin type III domain containing 2 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1606182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12387528 ELFN2 extracellular leucine rich repeat and fibronectin type III domain containing 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1606182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12387528 ELFN2 extracellular leucine rich repeat and fibronectin type III domain containing 2 gene DOID:630 genetic disease ISO RGD:1606182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387535 POU3F2 POU class 3 homeobox 2 gene DOID:3312 bipolar disorder ISO RGD:1351786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 12387535 POU3F2 POU class 3 homeobox 2 gene DOID:630 genetic disease ISO RGD:1351786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387540 RASSF6 Ras association domain family member 6 gene DOID:630 genetic disease ISO RGD:1605848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387540 RASSF6 Ras association domain family member 6 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1605848 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12387564 TSPAN13 tetraspanin 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12387564 TSPAN13 tetraspanin 13 gene DOID:630 genetic disease ISO RGD:1323423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387574 WDR17 WD repeat domain 17 gene DOID:630 genetic disease ISO RGD:1349408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387574 WDR17 WD repeat domain 17 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12387574 WDR17 WD repeat domain 17 gene DOID:9007188 Liver Neoplasms ISO RGD:1349408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12387615 KLC3 kinesin light chain 3 gene DOID:0050427 xeroderma pigmentosum ISO RGD:1604744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum 12387615 KLC3 kinesin light chain 3 gene DOID:0080912 cerebrooculofacioskeletal syndrome 2 ISO RGD:1604744 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 PMID:25741868 12387615 KLC3 kinesin light chain 3 gene DOID:0110845 xeroderma pigmentosum group D ISO RGD:1604744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group D PMID:25741868 12387615 KLC3 kinesin light chain 3 gene DOID:630 genetic disease ISO RGD:1604744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387634 KLHL26 kelch like family member 26 gene DOID:630 genetic disease ISO RGD:1602473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387634 KLHL26 kelch like family member 26 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1602473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12387650 SIRPB2 signal regulatory protein beta 2 gene DOID:630 genetic disease ISO RGD:1320248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387664 B3GNT7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 gene DOID:0060476 Perlman syndrome ISO RGD:1321569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12387664 B3GNT7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1321569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12387664 B3GNT7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 gene DOID:630 genetic disease ISO RGD:1321569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387680 ZNF740 zinc finger protein 740 gene DOID:630 genetic disease ISO RGD:1603524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387699 TBCK TBC1 domain containing kinase gene DOID:1059 intellectual disability ISO RGD:1606987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12387699 TBCK TBC1 domain containing kinase gene DOID:630 genetic disease ISO RGD:1606987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27040691|PMID:27040692|PMID:28492532|PMID:29283439|PMID:30103036|PMID:30577886|PMID:31618753 12387699 TBCK TBC1 domain containing kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12387699 TBCK TBC1 domain containing kinase gene DOID:9006056 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 3 ISO RGD:1606987 D RGD:7240710 20190315 OMIM 12387699 TBCK TBC1 domain containing kinase gene DOID:9006056 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 3 ISO RGD:1606987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | ClinVar Annotator: match by term: Syndromic Infantile Encephalopathy PMID:16199547|PMID:17576681|PMID:23977024|PMID:25558065|PMID:25741868|PMID:27040691|PMID:27040692|PMID:27275012|PMID:28492532|PMID:29283439|PMID:30103036|PMID:30542205|PMID:30577886|PMID:31618753|PMID:32576985|PMID:32860008|PMID:34298581|PMID:9536098 12387699 TBCK TBC1 domain containing kinase gene DOID:9006534 Nervous System Malformations ISO RGD:1606987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16199547|PMID:25558065|PMID:25741868|PMID:27040691|PMID:27040692|PMID:28492532|PMID:30103036 12387699 TBCK TBC1 domain containing kinase gene DOID:9008086 Developmental Disabilities ISO RGD:1606987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16199547|PMID:25558065|PMID:25741868|PMID:27040691|PMID:27040692|PMID:28492532|PMID:30103036 12387737 PBX1 PBX homeobox 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1317860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28566479 12387737 PBX1 PBX homeobox 1 gene DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay ISO RGD:1317860 D RGD:7240710 20190315 OMIM 12387737 PBX1 PBX homeobox 1 gene DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay ISO RGD:1317860 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | ClinVar Annotator: match by term: PBX1-related intellectual disability and pleiotropic developmental defects PMID:25741868|PMID:28492532|PMID:28566479|PMID:29036646|PMID:29226118|PMID:29966037|PMID:32860008 12387737 PBX1 PBX homeobox 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1317860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12387737 PBX1 PBX homeobox 1 gene DOID:1686 glaucoma ISO RGD:1308213 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (rat) PMID:28990066|REF_RGD_ID:155630605 12387737 PBX1 PBX homeobox 1 gene DOID:1686 glaucoma ISO RGD:1317860 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (human) PMID:28990066|REF_RGD_ID:155630605 12387737 PBX1 PBX homeobox 1 gene DOID:303 substance-related disorder ISO RGD:1317860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12387737 PBX1 PBX homeobox 1 gene DOID:3454 brain infarction ISO RGD:1308213 D RGD:9068941 20221027 RGD protein:altered expression:brain (rat) PMID:12161747|REF_RGD_ID:155630606 12387737 PBX1 PBX homeobox 1 gene DOID:630 genetic disease ISO RGD:1317860 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28566479|PMID:29036646 12387737 PBX1 PBX homeobox 1 gene DOID:8584 Burkitt lymphoma ISO RGD:1317860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17244677|PMID:1967982 12387737 PBX1 PBX homeobox 1 gene DOID:9003752 Persistent Truncus Arteriosus ISO RGD:1552910 D RGD:9068941 20221027 RGD PMID:18723445|REF_RGD_ID:155630610 12387737 PBX1 PBX homeobox 1 gene DOID:9008565 Congenital Heart Defects, Multiple Types ISO RGD:1552910 D RGD:9068941 20221027 RGD PMID:31625560|REF_RGD_ID:155630609 12387737 PBX1 PBX homeobox 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12387752 MRPS11 mitochondrial ribosomal protein S11 gene DOID:2717 Bloom syndrome ISO RGD:1350817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12387752 MRPS11 mitochondrial ribosomal protein S11 gene DOID:630 genetic disease ISO RGD:1350817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387752 MRPS11 mitochondrial ribosomal protein S11 gene DOID:9000217 Stomach Neoplasms ISO RGD:1350817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12387752 MRPS11 mitochondrial ribosomal protein S11 gene DOID:9000918 Disease Progression ISO RGD:1350817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12387752 MRPS11 mitochondrial ribosomal protein S11 gene DOID:9256 colorectal cancer ISO RGD:1350817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12387762 GAN gigaxonin gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1317147 D RGD:7240710 20180221 OMIM 12387762 GAN gigaxonin gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1317147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:11053687|PMID:11062483|PMID:11971098|PMID:12655563|PMID:12668605|PMID:14718689|PMID:15897506|PMID:16199547|PMID:17331252|PMID:17576681|PMID:17578852|PMID:17587580|PMID:19231187|PMID:19295179|PMID:20949505|PMID:21356581|PMID:2153943|PMID:23248352|PMID:23316953|PMID:23332420|PMID:23585478|PMID:23890932|PMID:24464710|PMID:24627108|PMID:24758703|PMID:25025039|PMID:25040701|PMID:25326635|PMID:25741868|PMID:26392352|PMID:28492532|PMID:29876741|PMID:30373780|PMID:30532362|PMID:32999401|PMID:9536098 12387762 GAN gigaxonin gene DOID:1059 intellectual disability ISO RGD:1317147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 12387762 GAN gigaxonin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1317147 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:24627108|PMID:25025039|PMID:25741868|PMID:28492532 12387762 GAN gigaxonin gene DOID:574 peripheral nervous system disease ISO RGD:1317147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:24758703|PMID:25741868|PMID:28492532 12387762 GAN gigaxonin gene DOID:630 genetic disease ISO RGD:1317147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11062483|PMID:12655563|PMID:12668605|PMID:14718689|PMID:16199547|PMID:17331252|PMID:17576681|PMID:17578852|PMID:20949505|PMID:23248352|PMID:23332420|PMID:23585478|PMID:23890932|PMID:24758703|PMID:25025039|PMID:25741868|PMID:26392352|PMID:28492532|PMID:32999401|PMID:9536098 12387762 GAN gigaxonin gene DOID:870 neuropathy ISO RGD:1317147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:24758703|PMID:25741868|PMID:28492532 12387762 GAN gigaxonin gene DOID:9000462 Giant Axonal Neuropathy ISO RGD:1317147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12387762 GAN gigaxonin gene DOID:9005603 Muscle Hypotonia ISO RGD:1317147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia 12387788 ARHGAP6 Rho GTPase activating protein 6 gene DOID:0110058 amelogenesis imperfecta type 1E ISO RGD:1349829 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth PMID:10669095|PMID:11201048|PMID:11839357|PMID:11922868|PMID:1483698|PMID:15111628|PMID:1916828|PMID:1967204|PMID:23251683|PMID:25741868|PMID:3169793|PMID:4623931|PMID:5225441|PMID:7599636|PMID:8406474|PMID:9188994 12387788 ARHGAP6 Rho GTPase activating protein 6 gene DOID:0112018 non-syndromic X-linked intellectual disability 104 ISO RGD:1349829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 12387788 ARHGAP6 Rho GTPase activating protein 6 gene DOID:1059 intellectual disability ISO RGD:1349829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12387788 ARHGAP6 Rho GTPase activating protein 6 gene DOID:10629 microphthalmia ISO RGD:1623320 D RGD:9068941 20220825 MouseDO OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 12387788 ARHGAP6 Rho GTPase activating protein 6 gene DOID:12849 autistic disorder ISO RGD:1349829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12387788 ARHGAP6 Rho GTPase activating protein 6 gene DOID:13938 amenorrhea ISO RGD:1349829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12387788 ARHGAP6 Rho GTPase activating protein 6 gene DOID:2187 amelogenesis imperfecta ISO RGD:1349829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta 12387788 ARHGAP6 Rho GTPase activating protein 6 gene DOID:630 genetic disease ISO RGD:1349829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12387788 ARHGAP6 Rho GTPase activating protein 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12387788 ARHGAP6 Rho GTPase activating protein 6 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1349829 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12387815 PNMA6A PNMA family member 6A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1346943 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12387815 PNMA6A PNMA family member 6A gene DOID:0050476 Barth syndrome ISO RGD:1346943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12387815 PNMA6A PNMA family member 6A gene DOID:0050800 creatine transporter deficiency ISO RGD:1346943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12387815 PNMA6A PNMA family member 6A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12387815 PNMA6A PNMA family member 6A gene DOID:10588 adrenoleukodystrophy ISO RGD:1346943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12387815 PNMA6A PNMA family member 6A gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1346943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12387815 PNMA6A PNMA family member 6A gene DOID:12849 autistic disorder ISO RGD:1346943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12387815 PNMA6A PNMA family member 6A gene DOID:13628 favism ISO RGD:1346943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12387815 PNMA6A PNMA family member 6A gene DOID:2729 dyskeratosis congenita ISO RGD:1346943 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12387815 PNMA6A PNMA family member 6A gene DOID:607 paraplegia ISO RGD:1346943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12387821 KATNBL1 katanin regulatory subunit B1 like 1 gene DOID:2717 Bloom syndrome ISO RGD:1314664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12387821 KATNBL1 katanin regulatory subunit B1 like 1 gene DOID:630 genetic disease ISO RGD:1314664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387821 KATNBL1 katanin regulatory subunit B1 like 1 gene DOID:9256 colorectal cancer ISO RGD:1314664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12387838 IGFBP6 insulin like growth factor binding protein 6 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12387838 IGFBP6 insulin like growth factor binding protein 6 gene DOID:127 leiomyoma ISO RGD:735616 D RGD:9068941 20200609 RGD uterine leiomyoma; mRNA:decreased expression:tumor:versus adjacent normal myometrium, by microarray PMID:15705628|REF_RGD_ID:2301708 12387838 IGFBP6 insulin like growth factor binding protein 6 gene DOID:1612 breast cancer ISO RGD:735616 D RGD:9068941 20200609 RGD protein:decreased expression:serum:in patients with breast cancer versus benign breast disease (p=0.016) PMID:10069662|REF_RGD_ID:2301715 12387838 IGFBP6 insulin like growth factor binding protein 6 gene DOID:1612 breast cancer no_association ISO RGD:735616 D RGD:9068941 20200609 RGD lower serum expression in cases vs controls but association not significant in multivariate analysis PMID:17287408|REF_RGD_ID:2301716 12387838 IGFBP6 insulin like growth factor binding protein 6 gene DOID:2773 contact dermatitis ISO RGD:735616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12387838 IGFBP6 insulin like growth factor binding protein 6 gene DOID:289 endometriosis ISO RGD:735616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12387838 IGFBP6 insulin like growth factor binding protein 6 gene DOID:630 genetic disease ISO RGD:735616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387838 IGFBP6 insulin like growth factor binding protein 6 gene DOID:8719 in situ carcinoma ISO RGD:735616 D RGD:9068941 20200609 RGD testicular CIS; mRNA:increased expression:tumor PMID:15123780|REF_RGD_ID:2301712 12387838 IGFBP6 insulin like growth factor binding protein 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735616 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15846301 12387838 IGFBP6 insulin like growth factor binding protein 6 gene DOID:9003281 Spontaneous Abortions ISO RGD:735616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12387838 IGFBP6 insulin like growth factor binding protein 6 gene DOID:9007692 Insulin Resistance ISO RGD:735616 D RGD:9068941 20200609 RGD human transgene overexpressed in mouse brain PMID:15889232|REF_RGD_ID:2301717 12387838 IGFBP6 insulin like growth factor binding protein 6 gene DOID:9719 neovascular inflammatory vitreoretinopathy severity ISO RGD:735616 D RGD:9068941 20200609 RGD protein:increased expression:vitreous,serum: PMID:23808406|REF_RGD_ID:10411880 12387838 IGFBP6 insulin like growth factor binding protein 6 gene DOID:9970 obesity ISO RGD:735616 D RGD:9068941 20200609 RGD human transgene overexpressed in mouse brain PMID:15889232|REF_RGD_ID:2301717 12387846 MAP3K7CL MAP3K7 C-terminal like gene DOID:630 genetic disease ISO RGD:1347445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387861 LMOD2 leiomodin 2 gene DOID:0081163 dilated cardiomyopathy 2G ISO RGD:1603238 D RGD:7240710 20220608 OMIM 12387861 LMOD2 leiomodin 2 gene DOID:0081163 dilated cardiomyopathy 2G ISO RGD:1603238 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2G PMID:25741868|PMID:31517052|PMID:34888509|PMID:35082396 12387861 LMOD2 leiomodin 2 gene DOID:0110458 dilated cardiomyopathy 1BB ISO RGD:1603238 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy PMID:35082396 12387861 LMOD2 leiomodin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1557393 D RGD:9068941 20220825 MouseDO 12387861 LMOD2 leiomodin 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12387861 LMOD2 leiomodin 2 gene DOID:630 genetic disease ISO RGD:1603238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387869 CCDC138 coiled-coil domain containing 138 gene DOID:0111201 distal hereditary motor neuronopathy type 7A ISO RGD:1603550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:28492532 12387869 CCDC138 coiled-coil domain containing 138 gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1603550 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PMID:10431241|PMID:10431242|PMID:18854857|PMID:20979233|PMID:28492532|PMID:28981473 12387869 CCDC138 coiled-coil domain containing 138 gene DOID:0111665 ectodermal dysplasia 10B ISO RGD:1603550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive PMID:28492532 12387869 CCDC138 coiled-coil domain containing 138 gene DOID:630 genetic disease ISO RGD:1603550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387869 CCDC138 coiled-coil domain containing 138 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1603550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ENCEPHALOPATHY, ACUTE NECROTIZING, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:28492532 12387904 AKIP1 A-kinase interacting protein 1 gene DOID:0080600 COVID-19 ISO RGD:1315871 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12387904 AKIP1 A-kinase interacting protein 1 gene DOID:9775 diastolic heart failure ISO RGD:1315871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12387917 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1351979 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12387917 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0050476 Barth syndrome ISO RGD:1351979 D RGD:7240710 20180130 OMIM 12387917 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0050476 Barth syndrome ISO RGD:1351979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria | ClinVar Annotator: match by term: MGA type II PMID:10480214|PMID:10484795|PMID:11238270|PMID:11735032|PMID:11748843|PMID:11896212|PMID:11968085|PMID:12032589|PMID:12468278|PMID:12529714|PMID:12930833|PMID:14654353|PMID:14662265|PMID:15098233|PMID:15793838|PMID:16199547|PMID:16427346|PMID:16548007|PMID:16601897|PMID:16684786|PMID:16873891|PMID:16880272|PMID:1719174|PMID:17394203|PMID:17576681|PMID:19037987|PMID:19396829|PMID:19438153|PMID:19619503|PMID:19648820|PMID:19700766|PMID:19846429|PMID:1998334|PMID:20530761|PMID:20730588|PMID:20812380|PMID:21300850|PMID:21659346|PMID:22281021|PMID:22382802|PMID:22410210|PMID:23031367|PMID:23206890|PMID:23345479|PMID:23361305|PMID:23409742|PMID:23606313|PMID:23656970|PMID:23660394|PMID:24033266|PMID:24342716|PMID:24365856|PMID:24813252|PMID:24887148|PMID:24962355|PMID:25112388|PMID:25652404|PMID:25741868|PMID:25941633|PMID:26350513|PMID:26471271|PMID:26724946|PMID:26845103|PMID:28123175|PMID:28183324|PMID:28492532|PMID:28855170|PMID:29077208|PMID:29089047|PMID:29247119|PMID:29334594|PMID:30471092|PMID:31333075|PMID:31568572|PMID:31647997|PMID:32619718|PMID:33500567|PMID:34906502|PMID:4685904|PMID:6142097|PMID:7616547|PMID:8042670|PMID:8434619|PMID:8630491|PMID:9332651|PMID:9345098|PMID:9382096|PMID:9382097|PMID:9384614|PMID:9536098 12387917 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0050700 cardiomyopathy ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 12387917 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0050800 creatine transporter deficiency ISO RGD:1351979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12387917 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0060480 left ventricular noncompaction ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:25741868 12387917 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12387917 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 12387917 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0081164 dilated cardiomyopathy 3B ISO RGD:1351979 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 3B 12387917 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868|PMID:28492532 12387917 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868 12387917 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1351979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 12387917 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0112003 immunodeficiency 33 ISO RGD:1351979 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12387917 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:10588 adrenoleukodystrophy ISO RGD:1351979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12387917 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1351979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12387917 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:12849 autistic disorder ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12387917 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:12929 endocardial fibroelastosis ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endocardial fibroelastosis PMID:19438153|PMID:19700766|PMID:20530761|PMID:24033266|PMID:24342716|PMID:25741868|PMID:25941633|PMID:26350513|PMID:28492532 12387917 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:12930 dilated cardiomyopathy ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11896212|PMID:12468278|PMID:19438153|PMID:19700766|PMID:20530761|PMID:24033266|PMID:24342716|PMID:25741868|PMID:25941633|PMID:26350513|PMID:28492532|PMID:4685904|PMID:9382096 12387917 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:13628 favism ISO RGD:1351979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12387917 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:2729 dyskeratosis congenita ISO RGD:1351979 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12387917 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:607 paraplegia ISO RGD:1351979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12387917 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:19438153|PMID:19700766|PMID:20530761|PMID:24033266|PMID:24342716|PMID:25741868|PMID:25941633|PMID:26350513|PMID:28492532|PMID:31333075|PMID:31568572|PMID:34540771 12387917 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase gene DOID:9002720 Splenomegaly ISO RGD:1351979 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12387943 GPR152 G protein-coupled receptor 152 gene DOID:1059 intellectual disability ISO RGD:1354216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12387943 GPR152 G protein-coupled receptor 152 gene DOID:630 genetic disease ISO RGD:1354216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387943 GPR152 G protein-coupled receptor 152 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1354216 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12387943 GPR152 G protein-coupled receptor 152 gene DOID:9004066 Congenital Stationary Night Blindness 2B ISO RGD:1354216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod synaptic disorder, congenital nonprogressive 12387943 GPR152 G protein-coupled receptor 152 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1354216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12387957 NAT16 N-acetyltransferase 16 (putative) gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12387957 NAT16 N-acetyltransferase 16 (putative) gene DOID:630 genetic disease ISO RGD:1601690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387957 NAT16 N-acetyltransferase 16 (putative) gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:1601690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY PMID:21681106 12387971 TLE2 TLE family member 2, transcriptional corepressor gene DOID:1227 neutropenia ISO RGD:1315408 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 12387971 TLE2 TLE family member 2, transcriptional corepressor gene DOID:630 genetic disease ISO RGD:1315408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12387971 TLE2 TLE family member 2, transcriptional corepressor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:0050700 cardiomyopathy ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10620750 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:0050861 colorectal adenocarcinoma treatment ISO RGD:619570 D RGD:9068941 20200609 RGD PMID:25405740|REF_RGD_ID:13210782 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:0060001 withdrawal disorder ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17549049 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:0060019 coronin-1A deficiency ISO RGD:619570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:28492532 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:619570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:619570 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:619570 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:0080599 Coronavirus infectious disease ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20484496 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:619570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23516525 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:619570 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:10652 Alzheimer's disease treatment ISO RGD:619571 D RGD:9068941 20200609 RGD PMID:28079060|REF_RGD_ID:13800563 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:10808 gastric ulcer ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:25518106|REF_RGD_ID:13800896 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:12098 trigeminal neuralgia ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:12849 autistic disorder ISO RGD:619570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:13619 extrahepatic cholestasis ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:1749 squamous cell carcinoma ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:1882 atrial heart septal defect ISO RGD:619570 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:2316 brain ischemia ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17901229 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:234 colon adenocarcinoma ISO RGD:619570 D RGD:9068941 20200609 RGD PMID:24691442|REF_RGD_ID:13210775 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:2870 endometrial adenocarcinoma ISO RGD:619570 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:endometrium (human) PMID:14760076|REF_RGD_ID:13703137 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:2870 endometrial adenocarcinoma treatment ISO RGD:619570 D RGD:9068941 20200609 RGD human tumor in a mouse model PMID:23402905|REF_RGD_ID:13703125 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:2871 endometrial carcinoma ISO RGD:619570 D RGD:9068941 20200609 RGD protein:increased expression:endometrium (human) PMID:29081408|REF_RGD_ID:13702082 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:2871 endometrial carcinoma severity ISO RGD:619570 D RGD:9068941 20200609 RGD protein:increased phosphorylation:endometrium (human) PMID:22459351|REF_RGD_ID:13441552 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:2945 severe acute respiratory syndrome ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20484496 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:3070 high grade glioma ISO RGD:619571 D RGD:9068941 20200609 RGD PMID:27256374|REF_RGD_ID:13702865 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:27152455|REF_RGD_ID:13800881 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:3587 pancreatic ductal carcinoma treatment ISO RGD:619570 D RGD:9068941 20200609 RGD human cells in mouse model PMID:20179210|REF_RGD_ID:14348973 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:5199 ureteral obstruction treatment ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:28063381|REF_RGD_ID:13800569 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:5419 schizophrenia ISO RGD:619570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:630 genetic disease ISO RGD:619570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:6432 pulmonary hypertension treatment ISO RGD:619570 D RGD:9068941 20200609 RGD PMID:25907942|REF_RGD_ID:13800893 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9000040 Hypertrophy ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12237323 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9000099 Experimental Colitis treatment ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:29037916|REF_RGD_ID:13800567 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17003101 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22247605 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22580338 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9001390 Testis Reperfusion Injury treatment ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:15944243|REF_RGD_ID:13800876 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:27396351|REF_RGD_ID:13800880 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24894820 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9002211 Hyperalgesia ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12941468|PMID:27093858 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9002265 Kidney Neoplasms ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21813464 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9002549 Shock treatment ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:29110153|REF_RGD_ID:13800566 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16211241 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9002955 Nerve Degeneration ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19911010 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9004265 Endometrioid Carcinomas treatment ISO RGD:619570 D RGD:9068941 20200609 RGD PMID:24917306|REF_RGD_ID:13441559 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9004332 Osteoarthritis, Experimental ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:29364174|REF_RGD_ID:13800565 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:619570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9004462 Atrophy ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16391472 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9004484 Sepsis ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15489642 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22580338 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9005100 Aberrant Crypt Foci ISO RGD:619570 D RGD:9068941 20200609 RGD PMID:23467982|REF_RGD_ID:13210776 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9005172 Lung Neoplasms ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11884234|PMID:12083368 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:29435821|REF_RGD_ID:13800872 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20692647 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3046 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:cornea PMID:21330660|REF_RGD_ID:5131482 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:619570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342401 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9006205 Animal Disease Models ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:619570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:3046 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:25907942|REF_RGD_ID:13800893 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9007402 Gliosis ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19402951 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9007456 Female Infertility ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21177758 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9007692 Insulin Resistance treatment ISO RGD:3046 D RGD:9068941 20200609 RGD associated with polycystic ovary syndrome PMID:23349861|REF_RGD_ID:13800789 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9007715 Endometrial Neoplasms treatment ISO RGD:619570 D RGD:9068941 20200609 RGD PMID:24917306|REF_RGD_ID:13441559 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:28814571|PMID:29741915|REF_RGD_ID:13800564|REF_RGD_ID:13800874 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:25345742|REF_RGD_ID:13800900 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9008086 Developmental Disabilities ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30559488 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:619570 D RGD:9068941 20200609 RGD PMID:10323886|REF_RGD_ID:13210794 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3046 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:pancreas: PMID:27259299|REF_RGD_ID:13506776 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3046 D RGD:9068941 20200609 RGD protein:hypophosphorylation:pancreatic islet: PMID:21911753|REF_RGD_ID:13506785 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:619571 D RGD:9068941 20200609 RGD protein:increased expression:dorsal horn: PMID:28757391|REF_RGD_ID:13506777 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:19164460|REF_RGD_ID:13506786 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:619571 D RGD:9068941 20200609 RGD PMID:26860984|REF_RGD_ID:13506775 12388002 MAPK3 mitogen-activated protein kinase 3 gene DOID:9970 obesity ISO RGD:619570 D RGD:9068941 20200609 RGD protein:increased phosphorylation:endometrium (human) PMID:20074784|REF_RGD_ID:13782055 12388030 PGBD1 piggyBac transposable element derived 1 gene DOID:11372 megacolon ISO RGD:1352422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12388030 PGBD1 piggyBac transposable element derived 1 gene DOID:5419 schizophrenia ISO RGD:1352422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22037552 12388030 PGBD1 piggyBac transposable element derived 1 gene DOID:630 genetic disease ISO RGD:1352422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12388091 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12388091 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 12388091 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0080312 neurodevelopmental disorder with midbrain and hindbrain malformations ISO RGD:1312226 D RGD:7240710 20190315 OMIM 12388091 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0080312 neurodevelopmental disorder with midbrain and hindbrain malformations ISO RGD:1312226 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with midbrain and hindbrain malformations PMID:25741868|PMID:28453519|PMID:28492532 12388091 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12388091 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12388091 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1312226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12388091 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:10907 microcephaly ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12388091 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12388091 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:2661 myoepithelioma ISO RGD:1312226 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12388091 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:5812 MHC class II deficiency ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12388091 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:630 genetic disease ISO RGD:1312226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12388091 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0050157 cryptogenic organizing pneumonia ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:lung, macrophage (human) PMID:21144722|REF_RGD_ID:5131112 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0050834 CHARGE syndrome ISO RGD:737288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CHARGE association 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0050848 obstructive sleep apnea ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19148690|REF_RGD_ID:5131433 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0050855 renal fibrosis ISO RGD:734247 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:10564241|REF_RGD_ID:7245536 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0050860 colorectal adenoma ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum, colorectal mucosa, epithelial cell PMID:23082052|REF_RGD_ID:13217413 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:737288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 ISO RGD:737288 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 PMID:25741868 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0080160 cytomegalovirus retinitis ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:17389501|REF_RGD_ID:7394808 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0080162 lupus nephritis ISO RGD:737288 D RGD:9068941 20200609 RGD PMID:10906156|REF_RGD_ID:7245572 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0080162 lupus nephritis severity ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:19201910|REF_RGD_ID:7245569 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0080526 bronchiectasis 1 ISO RGD:737288 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 PMID:25741868 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0080600 COVID-19 ISO RGD:737288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease (COVID-19) PMID:22801493|PMID:24033266|PMID:25741868|PMID:28492532 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:737288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0080745 polymyositis severity ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11055823|REF_RGD_ID:8661747 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0090018 autosomal dominant familial periodic fever ISO RGD:737288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) PMID:10199409|PMID:10902757|PMID:11175303|PMID:1144354|PMID:11443543|PMID:11700162|PMID:11722598|PMID:11817598|PMID:12209523|PMID:12352631|PMID:12520003|PMID:12905494|PMID:13130484|PMID:1402641|PMID:14610673|PMID:15216558|PMID:15228183|PMID:15280569|PMID:15312137|PMID:15492850|PMID:16199547|PMID:16508982|PMID:16635178|PMID:16684962|PMID:16707534|PMID:17576681|PMID:18180277|PMID:18408954|PMID:18512793|PMID:19541728|PMID:19917181|PMID:20457915|PMID:20532935|PMID:20576331|PMID:21029567|PMID:21113948|PMID:21420073|PMID:22311714|PMID:22343913|PMID:22566169|PMID:22801493|PMID:22918594|PMID:23117241|PMID:23322460|PMID:23745996|PMID:23965844|PMID:24033266|PMID:24064022|PMID:24251727|PMID:24295430|PMID:24393624|PMID:25326637|PMID:25387410|PMID:25640679|PMID:25741868|PMID:25936627|PMID:26598380|PMID:27332769|PMID:28427379|PMID:28492532|PMID:29047407|PMID:31562507|PMID:32248184|PMID:32380704|PMID:32831641|PMID:7156325|PMID:9529351|PMID:9536098|PMID:9585614 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0090018 autosomal dominant familial periodic fever susceptibility ISO RGD:737288 D RGD:7240710 20230517 OMIM 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:0111621 Temtamy syndrome ISO RGD:737288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:10325 silicosis ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:11208652|REF_RGD_ID:5131150 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:10457 Legionnaires' disease ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:18838275|REF_RGD_ID:5131445 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:10652 Alzheimer's disease ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:17724122|REF_RGD_ID:13825267 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:10652 Alzheimer's disease ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:20110607|REF_RGD_ID:13825249 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:10652 Alzheimer's disease ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid: PMID:21978728|REF_RGD_ID:13825268 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:10652 Alzheimer's disease no_association ISO RGD:737288 D RGD:9068941 20200609 RGD PMID:17267158|REF_RGD_ID:13825266 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:11394 adult respiratory distress syndrome ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:11159038|REF_RGD_ID:5131147 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:11394 adult respiratory distress syndrome ISO RGD:734247 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:21512145|REF_RGD_ID:5131206 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:11394 adult respiratory distress syndrome severity ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:21070800|REF_RGD_ID:5131145 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:11394 adult respiratory distress syndrome severity ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:21283009|REF_RGD_ID:5131096 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:11446 sciatic neuropathy ISO RGD:621237 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglia (rat) PMID:11240015|REF_RGD_ID:5130963 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:11446 sciatic neuropathy ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:9582261|REF_RGD_ID:5130898 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:11832 visual epilepsy ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:23333565|REF_RGD_ID:7245573 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:1205 allergic disease ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:12236 primary biliary cholangitis ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:734247 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21221075|REF_RGD_ID:7245511 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:13141 uveitis ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:12824249|REF_RGD_ID:5131249 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:13141 uveitis ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15746567|REF_RGD_ID:8661746 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:13141 uveitis treatment ISO RGD:737288 D RGD:9068941 20200609 RGD PMID:19440225|REF_RGD_ID:13825264 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:13166 allergic bronchopulmonary aspergillosis susceptibility ISO RGD:737288 D RGD:9068941 20200609 RGD DNA:snps:5' utr, exon:g.-609G>T rs4149570, g.36A>G rs767455 (human) PMID:20646338|REF_RGD_ID:5131174 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:13241 Behcet's disease ISO RGD:737288 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Behcet disease PMID:25741868|PMID:28492532 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:1380 endometrial cancer ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:8920779|REF_RGD_ID:5131439 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:14550 root resorption ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:22372265|REF_RGD_ID:13825431 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:1485 cystic fibrosis ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16463024 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:1520 colon carcinoma ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:1655258|REF_RGD_ID:5131434 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:1749 squamous cell carcinoma ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:15044707|REF_RGD_ID:8661739 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:224 transient cerebral ischemia ISO RGD:621237 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum,hippocampus: PMID:11412877|REF_RGD_ID:13825263 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:224 transient cerebral ischemia treatment ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:21868309|REF_RGD_ID:8661762 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2316 brain ischemia ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:16442237|REF_RGD_ID:1624184 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2316 brain ischemia ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2349 arteriosclerosis susceptibility ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:17442899|REF_RGD_ID:1624181 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2355 anemia ISO RGD:737288 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid PMID:14613268|REF_RGD_ID:10450570 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2377 multiple sclerosis ISO RGD:737288 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to, 5 PMID:22801493|PMID:24033266|PMID:25741868|PMID:28492532 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2377 multiple sclerosis susceptibility ISO RGD:737288 D RGD:7240710 20230517 OMIM 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2394 ovarian cancer disease_progression ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19825522|REF_RGD_ID:2315115 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2841 asthma ISO RGD:734247 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:20484920|REF_RGD_ID:5131201 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2921 glomerulonephritis disease_progression ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:20525973|REF_RGD_ID:7245516 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2921 glomerulonephritis treatment ISO RGD:737288 D RGD:9068941 20200609 RGD PMID:23400706|REF_RGD_ID:7245540 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2935 Chediak-Higashi syndrome ISO RGD:737288 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10199409|PMID:11443543|PMID:16508982|PMID:16635178|PMID:16684962|PMID:18512793|PMID:19917181|PMID:21029567|PMID:22311714|PMID:22801493|PMID:23322460|PMID:23745996|PMID:23965844|PMID:24033266|PMID:24393624|PMID:25326637|PMID:25741868|PMID:25936627|PMID:26598380|PMID:28492532 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2935 Chediak-Higashi syndrome ISO RGD:737288 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10199409|PMID:11443543|PMID:16508982|PMID:16635178|PMID:16684962|PMID:18512793|PMID:19917181|PMID:21029567|PMID:22311714|PMID:22801493|PMID:23322460|PMID:23745996|PMID:23965844|PMID:24033266|PMID:24393624|PMID:25326637|PMID:25741868|PMID:25936627|PMID:26598380|PMID:28492532|PMID:32380704|PMID:32831641 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2986 IgA glomerulonephritis ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16209246|REF_RGD_ID:6907414 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2986 IgA glomerulonephritis treatment ISO RGD:737288 D RGD:9068941 20200609 RGD PMID:9844059|REF_RGD_ID:6909132 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:2987 familial Mediterranean fever ISO RGD:737288 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Familial Periodic Fever PMID:25741868 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:3021 acute kidney failure ISO RGD:734247 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:12023385|REF_RGD_ID:7245535 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:3021 acute kidney failure ISO RGD:737288 D RGD:9068941 20200609 RGD associated with Acute Lung Injury PMID:18074478|REF_RGD_ID:5128661 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:3021 acute kidney failure ISO RGD:737288 D RGD:9068941 20200609 RGD associated with Shock, Septic;protein:increased expression:serum PMID:12500222|REF_RGD_ID:7245534 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:3021 acute kidney failure susceptibility ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:21150875|REF_RGD_ID:7245548 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:19643942|REF_RGD_ID:5131203 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:326 ischemia ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:14970118|REF_RGD_ID:1624195 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:3355 fibrosarcoma ISO RGD:737288 D RGD:9068941 20200609 RGD human gene in mouse model PMID:10753499|REF_RGD_ID:5131435 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:3393 coronary artery disease severity ISO RGD:737288 D RGD:9068941 20200609 RGD PMID:19845893|REF_RGD_ID:5131425 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:3525 middle cerebral artery infarction ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:15647744|REF_RGD_ID:13825261 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:20824709|REF_RGD_ID:5131156 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:737288 D RGD:9068941 20200609 RGD DNA:snp:5' utr:g.-329G>T rs4149570 (human) PMID:20422457|REF_RGD_ID:5131202 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:417 autoimmune disease ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21074606 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:4450 renal cell carcinoma ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:7912320|REF_RGD_ID:5131437 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:5199 ureteral obstruction ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:19541932|REF_RGD_ID:7245519 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:5327 retinal detachment ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:21402953|REF_RGD_ID:5131257 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:552 pneumonia ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:557 kidney disease ISO RGD:737288 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid PMID:14613268|REF_RGD_ID:10450570 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:5844 myocardial infarction ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:15117889|PMID:20651834|REF_RGD_ID:1624194|REF_RGD_ID:5130975 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:5844 myocardial infarction ISO RGD:621237 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:left ventricle myocardium (rat) PMID:21362018|REF_RGD_ID:5130892 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:6000 congestive heart failure ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16360360 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:630 genetic disease ISO RGD:737288 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11443543|PMID:16508982|PMID:18512793|PMID:19917181|PMID:23322460|PMID:23745996|PMID:23965844|PMID:24393624|PMID:25741868|PMID:26598380|PMID:28492532|PMID:32380704|PMID:32831641 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:635 acquired immunodeficiency syndrome ISO RGD:737288 D RGD:9068941 20200609 RGD PMID:8548330|REF_RGD_ID:12904035 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:6543 acne ISO RGD:737288 D RGD:9068941 20200609 RGD DNA:SNP: :p,M196R (676T>G) (human) PMID:20556591|REF_RGD_ID:8661742 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:7148 rheumatoid arthritis treatment ISO RGD:737288 D RGD:9068941 20200609 RGD DNA:SNP:promoter:36G>A (human) PMID:25311255|REF_RGD_ID:12904065 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:783 end stage renal disease ISO RGD:737288 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma PMID:22266663|REF_RGD_ID:7245510 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:841 extrinsic allergic alveolitis ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage (human) PMID:15929959|REF_RGD_ID:5131148 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:874 bacterial pneumonia ISO RGD:734247 D RGD:9068941 20200609 RGD protein:increased expression:serum (mouse) PMID:19842848|REF_RGD_ID:5131429 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:8778 Crohn's disease ISO RGD:621237 D RGD:9068941 20200609 RGD protein:increased expression:large intestine mucosa (rat) PMID:21359923|REF_RGD_ID:5130893 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:8778 Crohn's disease treatment ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:22531889|REF_RGD_ID:8661753 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:8893 psoriasis treatment ISO RGD:737288 D RGD:9068941 20200609 RGD PMID:15998370|REF_RGD_ID:8661740 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9000039 Spinal Cord Injuries ISO RGD:621237 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:16083358|REF_RGD_ID:1624185 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9000099 Experimental Colitis treatment ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:21296062|REF_RGD_ID:8661763 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9000310 Lung Injury ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10781441 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9000641 Pain ISO RGD:621237 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion (rat) PMID:21248590|REF_RGD_ID:5130897 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9000972 Fever ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11175303 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9000972 Fever susceptibility ISO RGD:737288 D RGD:9068941 20200609 RGD autosomal dominant, familial, periodic fever, OMIM:142680 ;DNA:missense mutation: :p.C30S PMID:10902757|REF_RGD_ID:1624177 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9000998 Brain Injuries ISO RGD:621237 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17074049|REF_RGD_ID:1624183 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9000998 Brain Injuries ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9001109 Anorexia ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18801959 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9001472 Nasal Polyps ISO RGD:737288 D RGD:9068941 20200609 RGD mRNA:decreased expression:nasal polyp (human) PMID:19095579|REF_RGD_ID:5131442 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9001488 Human Influenza ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:17182684|REF_RGD_ID:5131157 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9001488 Human Influenza ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19497758|REF_RGD_ID:5131432 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9001553 Spinal Cord Compression ISO RGD:621237 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (rat) PMID:21224756|REF_RGD_ID:5130917 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9001579 Neurogenic Inflammation ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:23333565|REF_RGD_ID:7245573 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9002159 Liver Reperfusion Injury ISO RGD:621237 D RGD:9068941 20200609 RGD protein:increased localization:mitochondrion PMID:23423194|REF_RGD_ID:8661760 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9002165 Diabetic Nephropathies ISO RGD:737288 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:serum PMID:19073786|REF_RGD_ID:2311357 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9002165 Diabetic Nephropathies ISO RGD:737288 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:22042131|REF_RGD_ID:7245547 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9002211 Hyperalgesia ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:12752784|REF_RGD_ID:5130913 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9002211 Hyperalgesia ISO RGD:621237 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:22652595|REF_RGD_ID:8661750 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9002211 Hyperalgesia ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:20417692|PMID:21145890|REF_RGD_ID:5130939|REF_RGD_ID:8661726 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9002211 Hyperalgesia treatment ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:21712071|REF_RGD_ID:8548873 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9002211 Hyperalgesia treatment ISO RGD:621237 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:24257399|REF_RGD_ID:8661737 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9002457 Experimental Arthritis treatment ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:21690068|PMID:23052485|REF_RGD_ID:7245941|REF_RGD_ID:8661761 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9002457 Experimental Arthritis treatment ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:20370892|REF_RGD_ID:8661729 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9002992 Nematode Infections ISO RGD:621237 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:20695884|REF_RGD_ID:5130965 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis severity ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum, granulocyte PMID:19690440|REF_RGD_ID:7245518 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9004009 Reperfusion Injury ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:17109621|REF_RGD_ID:1624182 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:737288 D RGD:9068941 20200609 RGD PMID:21152182|REF_RGD_ID:8661764 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9004994 Embryo Loss ISO RGD:734247 D RGD:9068941 20221117 RGD PMID:22972987|REF_RGD_ID:155663421 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9005532 Muscle Weakness ISO RGD:734247 D RGD:9068941 20200609 RGD Diaphragm Weakness PMID:21097524|REF_RGD_ID:5130943 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621237 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:21481476|REF_RGD_ID:5131250 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12193562 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:734247 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:22728466|REF_RGD_ID:7245543 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9006549 Enterovirus Infections ISO RGD:734247 D RGD:9068941 20200609 RGD Rhinovirus Infections PMID:19864593|REF_RGD_ID:5131210 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:19635911|REF_RGD_ID:8661744 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9006646 Metabolic Syndrome ISO RGD:737288 D RGD:9068941 20200609 RGD associated with obesity;protein:increased expression:plasma PMID:17200772|REF_RGD_ID:1624178 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9007346 Cachexia ISO RGD:621237 D RGD:9068941 20200609 RGD associated with Carcinoma, Hepatocellular;protein, mRNA:increased expression:skeletal muscle, adipose tissue PMID:16077938|REF_RGD_ID:1624190 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9007346 Cachexia ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18801959 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9007417 Pseudomonas Infections ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:20448050|REF_RGD_ID:5131427 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9007480 Hyperoxia ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10781441 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:621237 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15164724|REF_RGD_ID:1580295 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9007692 Insulin Resistance ISO RGD:737288 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression PMID:11882518|REF_RGD_ID:1624180 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9007956 Febrile Seizures ISO RGD:737288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Febrile seizures PMID:25741868|PMID:28492532 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:737288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9007996 End Stage Liver Disease treatment ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:23874752|REF_RGD_ID:8661754 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9008091 Optic Nerve Injuries ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:18552980|REF_RGD_ID:7794683 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9008091 Optic Nerve Injuries ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:14697498|REF_RGD_ID:8661743 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9008604 Radiation Pneumonitis ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:18347190|REF_RGD_ID:5131153 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9074 systemic lupus erythematosus severity ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8393677|REF_RGD_ID:7245539 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9120 amyloidosis ISO RGD:737288 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid PMID:14613268|REF_RGD_ID:10450570 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:621237 D RGD:9068941 20200609 RGD mRNA:increased expression:coronary artery (rat) PMID:20559450|REF_RGD_ID:5130987 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11882518 12388118 TNFRSF1A TNF receptor superfamily member 1A gene DOID:9970 obesity ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12935365|REF_RGD_ID:1624179 12388135 GNB1 G protein subunit beta 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:732785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12388135 GNB1 G protein subunit beta 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:732785 D RGD:7240710 20201223 OMIM 12388135 GNB1 G protein subunit beta 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 12388135 GNB1 G protein subunit beta 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732785 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868|PMID:27108799|PMID:27759915|PMID:28492532|PMID:30504930|PMID:9596582 12388135 GNB1 G protein subunit beta 1 gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:732785 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868 12388135 GNB1 G protein subunit beta 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732785 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12388135 GNB1 G protein subunit beta 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12388135 GNB1 G protein subunit beta 1 gene DOID:0070072 autosomal dominant intellectual developmental disorder 42 ISO RGD:732785 D RGD:7240710 20190315 OMIM 12388135 GNB1 G protein subunit beta 1 gene DOID:0070072 autosomal dominant intellectual developmental disorder 42 ISO RGD:732785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 42 PMID:19344873|PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27668284|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29174093|PMID:29694806|PMID:30194818|PMID:30504930|PMID:31034681|PMID:31735425|PMID:31785789|PMID:32134617|PMID:32581362|PMID:32918542|PMID:32963807|PMID:9596582 12388135 GNB1 G protein subunit beta 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12388135 GNB1 G protein subunit beta 1 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12388135 GNB1 G protein subunit beta 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:732785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12388135 GNB1 G protein subunit beta 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:732785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12388135 GNB1 G protein subunit beta 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:732785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12388135 GNB1 G protein subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27759915|PMID:28492532|PMID:29174093|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 12388135 GNB1 G protein subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:732785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29174093|PMID:29694806|PMID:30194818|PMID:31735425|PMID:31785789|PMID:32134617|PMID:32918542|PMID:32963807|PMID:9596582 12388135 GNB1 G protein subunit beta 1 gene DOID:10907 microcephaly ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:27108799|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617 12388135 GNB1 G protein subunit beta 1 gene DOID:1459 hypothyroidism ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 12388135 GNB1 G protein subunit beta 1 gene DOID:1596 depressive disorder ISO RGD:732785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22113448 12388135 GNB1 G protein subunit beta 1 gene DOID:1826 epilepsy ISO RGD:732785 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27759915|PMID:28492532|PMID:30194818|PMID:30504930|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 12388135 GNB1 G protein subunit beta 1 gene DOID:1826 epilepsy ISO RGD:732785 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29694806|PMID:30194818|PMID:30504930|PMID:31735425|PMID:32134617|PMID:32918542|PMID:32963807|PMID:9596582 12388135 GNB1 G protein subunit beta 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12388135 GNB1 G protein subunit beta 1 gene DOID:1969 cerebral palsy ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 12388135 GNB1 G protein subunit beta 1 gene DOID:2030 anxiety disorder ISO RGD:732785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22113448 12388135 GNB1 G protein subunit beta 1 gene DOID:2234 focal epilepsy ISO RGD:732785 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness PMID:25485910|PMID:25741868|PMID:27108799|PMID:30194818|PMID:32134617 12388135 GNB1 G protein subunit beta 1 gene DOID:540 strabismus ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Strabismus PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 12388135 GNB1 G protein subunit beta 1 gene DOID:543 dystonia ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31034681|PMID:31735425|PMID:32134617|PMID:32581362|PMID:32963807|PMID:9596582 12388135 GNB1 G protein subunit beta 1 gene DOID:6000 congestive heart failure disease_progression ISO RGD:732785 D RGD:9068941 20221027 RGD DNA:mutations: : PMID:33779075|REF_RGD_ID:155630627 12388135 GNB1 G protein subunit beta 1 gene DOID:630 genetic disease ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19344873|PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27668284|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29174093|PMID:30194818|PMID:30504930|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 12388135 GNB1 G protein subunit beta 1 gene DOID:674 cleft palate ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 12388135 GNB1 G protein subunit beta 1 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:732785 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868|PMID:27108799|PMID:28087732|PMID:29694806|PMID:30194818|PMID:32134617|PMID:32918542 12388135 GNB1 G protein subunit beta 1 gene DOID:9001276 Failure to Thrive ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 12388135 GNB1 G protein subunit beta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 12388135 GNB1 G protein subunit beta 1 gene DOID:9005466 Language Development Disorders ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Expressive language delay PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 12388135 GNB1 G protein subunit beta 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:732785 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29694806|PMID:30194818|PMID:30504930|PMID:31735425|PMID:32134617|PMID:32918542|PMID:32963807|PMID:9596582 12388135 GNB1 G protein subunit beta 1 gene DOID:9006257 Growth Disorders ISO RGD:732785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 12388135 GNB1 G protein subunit beta 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12388135 GNB1 G protein subunit beta 1 gene DOID:9008086 Developmental Disabilities ISO RGD:732785 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29694806|PMID:30194818|PMID:30504930|PMID:31735425|PMID:32134617|PMID:32918542|PMID:32963807|PMID:9596582 12388135 GNB1 G protein subunit beta 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:732785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12388135 GNB1 G protein subunit beta 1 gene DOID:9650 pathologic nystagmus ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 12388135 GNB1 G protein subunit beta 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732785 D RGD:7240710 20230505 OMIM 12388135 GNB1 G protein subunit beta 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute lymphoblastic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Lymphoblastic leukemia PMID:25485910|PMID:25741868|PMID:27108799|PMID:28492532|PMID:32134617 12388161 PPIL1 peptidylprolyl isomerase like 1 gene DOID:0050553 JMP syndrome ISO RGD:1319281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12388161 PPIL1 peptidylprolyl isomerase like 1 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1319281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital pontocerebellar hypoplasia PMID:24033266|PMID:33220177 12388161 PPIL1 peptidylprolyl isomerase like 1 gene DOID:0112325 pontocerebellar hypoplasia type 14 ISO RGD:1319281 D RGD:7240710 20210505 OMIM 12388161 PPIL1 peptidylprolyl isomerase like 1 gene DOID:0112325 pontocerebellar hypoplasia type 14 ISO RGD:1319281 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 14 PMID:24033266|PMID:25741868|PMID:33220177 12388161 PPIL1 peptidylprolyl isomerase like 1 gene DOID:10907 microcephaly ISO RGD:1319282 D RGD:9068941 20220825 MouseDO 12388161 PPIL1 peptidylprolyl isomerase like 1 gene DOID:630 genetic disease ISO RGD:1319281 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12388161 PPIL1 peptidylprolyl isomerase like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24033266|PMID:33220177 12388169 FGL2 fibrinogen like 2 gene DOID:0040094 autoimmune glomerulonephritis ISO RGD:732675 D RGD:9068941 20220825 MouseDO 12388169 FGL2 fibrinogen like 2 gene DOID:0080600 COVID-19 ISO RGD:1347654 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12388169 FGL2 fibrinogen like 2 gene DOID:3042 allergic contact dermatitis ISO RGD:1347654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 12388169 FGL2 fibrinogen like 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12388169 FGL2 fibrinogen like 2 gene DOID:630 genetic disease ISO RGD:1347654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12388169 FGL2 fibrinogen like 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12388169 FGL2 fibrinogen like 2 gene DOID:9002311 Experimental Autoimmune Myocarditis severity ISO RGD:620170 D RGD:9068941 20200903 RGD PMID:28892130|REF_RGD_ID:38549573 12388169 FGL2 fibrinogen like 2 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1347654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12388175 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1320645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12388175 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1320645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12388175 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:0081007 RNASET2-deficient cystic leukoencephalopathy ISO RGD:1320645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystic Leukoencephalopathy PMID:25741868|PMID:27159321|PMID:28857146 12388175 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1320645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 12388175 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:0112076 nuclear type mitochondrial complex I deficiency 13 ISO RGD:1320645 D RGD:7240710 20190315 OMIM 12388175 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:0112076 nuclear type mitochondrial complex I deficiency 13 ISO RGD:1320645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 PMID:18513682|PMID:25741868|PMID:27159321|PMID:28857146|PMID:32154054 12388175 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:10652 Alzheimer's disease ISO RGD:1320645 D RGD:9068941 20200609 RGD PMID:28474567|REF_RGD_ID:13792588 12388175 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:3652 Leigh disease ISO RGD:1320645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:28492532 12388175 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:630 genetic disease ISO RGD:1320645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12388175 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1320645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12388175 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:9000918 Disease Progression ISO RGD:1320645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12388175 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12388175 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12388175 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12388182 CIR1 corepressor interacting with RBPJ, CIR1 gene DOID:0080600 COVID-19 ISO RGD:1602899 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12388182 CIR1 corepressor interacting with RBPJ, CIR1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1602899 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12388182 CIR1 corepressor interacting with RBPJ, CIR1 gene DOID:630 genetic disease ISO RGD:1602899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12388196 FARSB phenylalanyl-tRNA synthetase subunit beta gene DOID:3082 interstitial lung disease ISO RGD:1348852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial pneumonitis PMID:29979980 12388196 FARSB phenylalanyl-tRNA synthetase subunit beta gene DOID:5082 liver cirrhosis ISO RGD:1348852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Liver cirrhosis PMID:29979980 12388196 FARSB phenylalanyl-tRNA synthetase subunit beta gene DOID:630 genetic disease ISO RGD:1348852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12388196 FARSB phenylalanyl-tRNA synthetase subunit beta gene DOID:9001665 Aneurysm ISO RGD:1348852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aneurysm PMID:29979980 12388196 FARSB phenylalanyl-tRNA synthetase subunit beta gene DOID:9001942 Rajab Interstitial Lung Disease with Brain Calcifications ISO RGD:1348852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications | ClinVar Annotator: match by term: Rajab syndrome PMID:19161147|PMID:25741868|PMID:29573043|PMID:29979980|PMID:30014610 12388196 FARSB phenylalanyl-tRNA synthetase subunit beta gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1348852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:29573043 12388196 FARSB phenylalanyl-tRNA synthetase subunit beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12388196 FARSB phenylalanyl-tRNA synthetase subunit beta gene DOID:9006686 Rajab Interstitial Lung Disease with Brain Calcifications 1 ISO RGD:1348852 D RGD:7240710 20190315 OMIM 12388196 FARSB phenylalanyl-tRNA synthetase subunit beta gene DOID:9006686 Rajab Interstitial Lung Disease with Brain Calcifications 1 ISO RGD:1348852 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, SMALL STATURE, MICROCEPHALY, AND BRAIN CALCIFICATIONS | ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 1 PMID:25741868|PMID:28492532|PMID:29573043|PMID:29979980 12388217 TARBP1 TAR (HIV-1) RNA binding protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1347235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12388217 TARBP1 TAR (HIV-1) RNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1347235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12388217 TARBP1 TAR (HIV-1) RNA binding protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12388250 OXCT1 3-oxoacid CoA-transferase 1 gene DOID:11476 osteoporosis ISO RGD:1312252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12388250 OXCT1 3-oxoacid CoA-transferase 1 gene DOID:2978 carbohydrate metabolic disorder ISO RGD:1312252 D RGD:9068941 20200609 RGD protein:decreased activity:multiple (human) PMID:8844009|REF_RGD_ID:2326201 12388250 OXCT1 3-oxoacid CoA-transferase 1 gene DOID:630 genetic disease ISO RGD:1312252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12388250 OXCT1 3-oxoacid CoA-transferase 1 gene DOID:9001530 Succinyl-CoA:3-oxoacid CoA transferase deficiency ISO RGD:1312252 D RGD:7240710 20180130 OMIM 12388250 OXCT1 3-oxoacid CoA-transferase 1 gene DOID:9001530 Succinyl-CoA:3-oxoacid CoA transferase deficiency ISO RGD:1312252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3-Oxoacid CoA Transferase Deficiency | ClinVar Annotator: match by term: Succinyl-CoA:3-oxoacid CoA transferase deficiency PMID:10964512|PMID:1405472|PMID:15669687|PMID:16199547|PMID:17576681|PMID:17706444|PMID:20818383|PMID:21296660|PMID:23281106|PMID:23420214|PMID:23757202|PMID:25741868|PMID:28488182|PMID:28492532|PMID:31216074|PMID:8751852|PMID:9392403|PMID:9536098|PMID:9671268 12388250 OXCT1 3-oxoacid CoA-transferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12388250 OXCT1 3-oxoacid CoA-transferase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1584008 D RGD:9068941 20200609 RGD protein:decreased activity:heart, mitochondrion (rat) PMID:3548709|REF_RGD_ID:2326100 12388250 OXCT1 3-oxoacid CoA-transferase 1 gene DOID:9007730 Burns ISO RGD:1584008 D RGD:9068941 20200609 RGD protein:increased expression:ileum (rat) PMID:15449568|REF_RGD_ID:2326198 12388250 OXCT1 3-oxoacid CoA-transferase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1584008 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression, decreased activity:pancreatic islets (rat) PMID:20460097|REF_RGD_ID:2326185 12388250 OXCT1 3-oxoacid CoA-transferase 1 gene DOID:9970 obesity ISO RGD:1584008 D RGD:9068941 20200609 RGD mRNA:decreased expression:thalamus (rat) PMID:19219059|REF_RGD_ID:2326191 12388271 CLIC5 chloride intracellular channel 5 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1351761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12388271 CLIC5 chloride intracellular channel 5 gene DOID:0110464 autosomal recessive nonsyndromic deafness 103 ISO RGD:1351761 D RGD:7240710 20180130 OMIM 12388271 CLIC5 chloride intracellular channel 5 gene DOID:0110464 autosomal recessive nonsyndromic deafness 103 ISO RGD:1351761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 103 PMID:24033266|PMID:24781754|PMID:25741868|PMID:28492532 12388271 CLIC5 chloride intracellular channel 5 gene DOID:630 genetic disease ISO RGD:1351761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12388271 CLIC5 chloride intracellular channel 5 gene DOID:9004538 Hearing Loss ISO RGD:1351761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 12388284 VPS13B vacuolar protein sorting 13 homolog B gene DOID:0080625 severe congenital neutropenia 1 ISO RGD:1317598 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant PMID:16648375|PMID:25741868|PMID:28492532 12388284 VPS13B vacuolar protein sorting 13 homolog B gene DOID:0111590 Cohen syndrome IAGP D RGD:12801476 20221130 OMIA Trapped Neutrophil Syndrome PMID:16031897|PMID:16441310|PMID:17302793|PMID:21605373|PMID:22795605|PMID:22240985|PMID:27387721|PMID:33737533|PMID:32182118|PMID:24032537|PMID:36239343 12388284 VPS13B vacuolar protein sorting 13 homolog B gene DOID:0111590 Cohen syndrome ISO RGD:1317598 D RGD:7240710 20180130 OMIM 12388284 VPS13B vacuolar protein sorting 13 homolog B gene DOID:0111590 Cohen syndrome ISO RGD:1317598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:11169562|PMID:12730828|PMID:15141358|PMID:15154116|PMID:15173253|PMID:15211651|PMID:15498460|PMID:15691367|PMID:15918062|PMID:16199547|PMID:16648375|PMID:16917849|PMID:17383910|PMID:17576681|PMID:17786118|PMID:17990063|PMID:18414213|PMID:18655112|PMID:19006247|PMID:19190672|PMID:19533689|PMID:19763152|PMID:20307669|PMID:20461111|PMID:20656880|PMID:20683995|PMID:20921020|PMID:21330571|PMID:21659346|PMID:21865173|PMID:22382802|PMID:22406018|PMID:22527104|PMID:22700954|PMID:22855652|PMID:23033978|PMID:23188044|PMID:23352163|PMID:23757202|PMID:24033266|PMID:24311531|PMID:24334746|PMID:24334764|PMID:25060287|PMID:25326635|PMID:25356970|PMID:25472526|PMID:25502226|PMID:25525159|PMID:25533962|PMID:25640679|PMID:25741868|PMID:26104215|PMID:26133662|PMID:26395554|PMID:26443248|PMID:26467025|PMID:26539891|PMID:26938784|PMID:27175599|PMID:27353947|PMID:27380831|PMID:27533158|PMID:27829003|PMID:28041643|PMID:28057753|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28631888|PMID:28832562|PMID:29149870|PMID:29431110|PMID:29453417|PMID:29634382|PMID:29706646|PMID:29758347|PMID:30138938|PMID:30290665|PMID:30792901|PMID:30843084|PMID:31580008|PMID:31736247|PMID:31943017|PMID:31965297|PMID:32170714|PMID:32384097|PMID:32505691|PMID:32581362|PMID:32860008|PMID:32919079|PMID:32959227|PMID:33023636|PMID:33025479|PMID:33217554|PMID:34353225|PMID:9536098 12388284 VPS13B vacuolar protein sorting 13 homolog B gene DOID:10584 retinitis pigmentosa ISO RGD:1317598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15141358|PMID:16648375|PMID:20461111|PMID:25741868|PMID:26467025|PMID:28492532 12388284 VPS13B vacuolar protein sorting 13 homolog B gene DOID:1059 intellectual disability ISO RGD:1317598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17990063|PMID:25741868|PMID:26467025|PMID:28492532 12388284 VPS13B vacuolar protein sorting 13 homolog B gene DOID:10907 microcephaly ISO RGD:1317598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12388284 VPS13B vacuolar protein sorting 13 homolog B gene DOID:11830 myopia ISO RGD:1317598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia PMID:15141358|PMID:16199547|PMID:16648375|PMID:20461111|PMID:24334764|PMID:28492532|PMID:32581362 12388284 VPS13B vacuolar protein sorting 13 homolog B gene DOID:5419 schizophrenia ISO RGD:1317598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12388284 VPS13B vacuolar protein sorting 13 homolog B gene DOID:630 genetic disease ISO RGD:1317598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15141358|PMID:15154116|PMID:15211651|PMID:15918062|PMID:16648375|PMID:17383910|PMID:17576681|PMID:17990063|PMID:18414213|PMID:19006247|PMID:20461111|PMID:20683995|PMID:20921020|PMID:21659346|PMID:22382802|PMID:22527104|PMID:23033978|PMID:23352163|PMID:23757202|PMID:24033266|PMID:25326635|PMID:25356970|PMID:25472526|PMID:25502226|PMID:25525159|PMID:25741868|PMID:26133662|PMID:26443248|PMID:26467025|PMID:27175599|PMID:27353947|PMID:27380831|PMID:27829003|PMID:28057753|PMID:28492532|PMID:29758347|PMID:30792901|PMID:30843084|PMID:31736247|PMID:31943017|PMID:32384097|PMID:9536098 12388284 VPS13B vacuolar protein sorting 13 homolog B gene DOID:83 cataract ISO RGD:1322508 D RGD:9068941 20220825 MouseDO OMIM:601371 12388284 VPS13B vacuolar protein sorting 13 homolog B gene DOID:8501 fundus dystrophy ISO RGD:1317598 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 12388284 VPS13B vacuolar protein sorting 13 homolog B gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1317598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868|PMID:28492532 12388284 VPS13B vacuolar protein sorting 13 homolog B gene DOID:9006534 Nervous System Malformations ISO RGD:1317598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:15141358|PMID:16648375|PMID:20461111|PMID:20656880|PMID:25741868|PMID:28492532 12388284 VPS13B vacuolar protein sorting 13 homolog B gene DOID:9007653 Multiple Abnormalities susceptibility ISO RGD:1317598 D RGD:9068941 20200609 RGD Cohen syndrome, OMIM:216550:DNA:deletion mutation, nonsense mutation, missense mutation PMID:12730828|REF_RGD_ID:1357205 12388284 VPS13B vacuolar protein sorting 13 homolog B gene DOID:9007661 Dwarfism ISO RGD:1317598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:15141358|PMID:15154116|PMID:16648375|PMID:17990063|PMID:20461111|PMID:25525159|PMID:25741868|PMID:28492532|PMID:34353225 12388284 VPS13B vacuolar protein sorting 13 homolog B gene DOID:9008086 Developmental Disabilities ISO RGD:1317598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:15141358|PMID:15173253|PMID:16199547|PMID:16648375|PMID:20461111|PMID:24334764|PMID:25741868|PMID:28492532|PMID:32581362 12388284 VPS13B vacuolar protein sorting 13 homolog B gene DOID:9008296 Eye Abnormalities ISO RGD:1317598 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:15141358|PMID:16648375|PMID:20461111|PMID:26395554|PMID:28041643|PMID:28492532|PMID:29149870 12388378 GRM1 glutamate metabotropic receptor 1 gene DOID:0050753 cerebellar ataxia IAGP D RGD:12801476 20210603 OMIA Ataxia, cerebellar, neonatal, GRM1-related PMID:12465765|PMID:21281350 12388378 GRM1 glutamate metabotropic receptor 1 gene DOID:0050753 cerebellar ataxia ISO RGD:736303 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:36675067 12388378 GRM1 glutamate metabotropic receptor 1 gene DOID:0050871 fibroma ISO RGD:736303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24658000 12388378 GRM1 glutamate metabotropic receptor 1 gene DOID:0080062 autosomal recessive spinocerebellar ataxia 13 ISO RGD:736303 D RGD:7240710 20180130 OMIM 12388378 GRM1 glutamate metabotropic receptor 1 gene DOID:0080062 autosomal recessive spinocerebellar ataxia 13 ISO RGD:736303 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 13 PMID:19146831|PMID:19924463|PMID:22448230|PMID:25741868|PMID:25741889|PMID:26308914|PMID:26467025|PMID:28492532|PMID:31319223 12388378 GRM1 glutamate metabotropic receptor 1 gene DOID:0080286 spinocerebellar ataxia 44 ISO RGD:736303 D RGD:7240710 20190315 OMIM 12388378 GRM1 glutamate metabotropic receptor 1 gene DOID:0080286 spinocerebellar ataxia 44 ISO RGD:736303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 44 PMID:25741868|PMID:26467025|PMID:28492532|PMID:28886343 12388378 GRM1 glutamate metabotropic receptor 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138692 12388378 GRM1 glutamate metabotropic receptor 1 gene DOID:14261 fragile X syndrome ISO RGD:736303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fragile X syndrome 12388378 GRM1 glutamate metabotropic receptor 1 gene DOID:1824 status epilepticus ISO RGD:736303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15058486|PMID:17446080 12388378 GRM1 glutamate metabotropic receptor 1 gene DOID:1826 epilepsy ISO RGD:736303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19853022 12388378 GRM1 glutamate metabotropic receptor 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:2742 D RGD:9068941 20200609 RGD protein:increased expression:forebrain, postsynaptic density PMID:11226670|REF_RGD_ID:5147998 12388378 GRM1 glutamate metabotropic receptor 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:736303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15694259 12388378 GRM1 glutamate metabotropic receptor 1 gene DOID:6039 uveal melanoma ISO RGD:731957 D RGD:9068941 20220825 MouseDO OMIM:155720 | OMIM:606660 | OMIM:606661 12388378 GRM1 glutamate metabotropic receptor 1 gene DOID:630 genetic disease ISO RGD:736303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22448230|PMID:25741868|PMID:26467025|PMID:28492532 12388378 GRM1 glutamate metabotropic receptor 1 gene DOID:8923 skin melanoma ISO RGD:731957 D RGD:9068941 20220825 MouseDO OMIM:155601 | OMIM:608035 | OMIM:609048 | OMIM:612263 | OMIM:613099 | OMIM:613972 | OMIM:614456 | OMIM:615134 | OMIM:615848 12388378 GRM1 glutamate metabotropic receptor 1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:736303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12388378 GRM1 glutamate metabotropic receptor 1 gene DOID:9007603 Bone Tissue Neoplasms ISO RGD:736303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24658000 12388378 GRM1 glutamate metabotropic receptor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:736303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741889|PMID:31319223 12388409 PRKCSH protein kinase C substrate 80K-H gene DOID:0050770 polycystic liver disease ISO RGD:1320068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:25741868|PMID:28492532 12388409 PRKCSH protein kinase C substrate 80K-H gene DOID:0050990 episodic ataxia type 2 ISO RGD:1320068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12388409 PRKCSH protein kinase C substrate 80K-H gene DOID:0080322 polycystic kidney disease ISO RGD:1320068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21685914 12388409 PRKCSH protein kinase C substrate 80K-H gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1320068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12388409 PRKCSH protein kinase C substrate 80K-H gene DOID:0110624 primary ciliary dyskinesia 30 ISO RGD:1320068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 30 12388409 PRKCSH protein kinase C substrate 80K-H gene DOID:0111254 glutaric acidemia I ISO RGD:1320068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12388409 PRKCSH protein kinase C substrate 80K-H gene DOID:2043 hepatitis B treatment ISO RGD:1320069 D RGD:9068941 20200609 RGD PMID:24769044|REF_RGD_ID:14402034 12388409 PRKCSH protein kinase C substrate 80K-H gene DOID:3413 alpha-mannosidosis ISO RGD:1320068 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12388409 PRKCSH protein kinase C substrate 80K-H gene DOID:409 liver disease ISO RGD:1320068 D RGD:9068941 20200609 RGD PMID:12529853|REF_RGD_ID:1599188 12388409 PRKCSH protein kinase C substrate 80K-H gene DOID:630 genetic disease ISO RGD:1320068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28492532 12388409 PRKCSH protein kinase C substrate 80K-H gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1320068 D RGD:7240710 20180130 OMIM 12388409 PRKCSH protein kinase C substrate 80K-H gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1320068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Polycystic liver disease 1 PMID:11047756|PMID:12529853|PMID:12577059|PMID:16835903|PMID:22415584|PMID:25741868|PMID:26046366|PMID:28166811|PMID:28492532|PMID:29038287 12388437 HEPHL1 hephaestin like 1 gene DOID:1059 intellectual disability ISO RGD:1345614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12388437 HEPHL1 hephaestin like 1 gene DOID:630 genetic disease ISO RGD:1345614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12388437 HEPHL1 hephaestin like 1 gene DOID:9001311 Lichen Planus Follicularis ISO RGD:1345614 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Lichen planus follicularis 12388437 HEPHL1 hephaestin like 1 gene DOID:9001704 Pili Torti, Developmental Delay, Neurological Abnormalities ISO RGD:1345614 D RGD:7240710 20201202 OMIM 12388437 HEPHL1 hephaestin like 1 gene DOID:9001704 Pili Torti, Developmental Delay, Neurological Abnormalities ISO RGD:1345614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pili torti and developmental delay PMID:25741868|PMID:31125343 12388461 FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1317522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12388461 FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1317522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12388461 FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1317522 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12388461 FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:1059 intellectual disability ISO RGD:1317522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12388461 FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:12849 autistic disorder ISO RGD:1317522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19365831 12388461 FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:630 genetic disease ISO RGD:1317522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12388461 FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1317522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12388461 FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1317522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062064 12388503 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:0050451 Brugada syndrome ISO RGD:731904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:19120683|PMID:20558321|PMID:21215473|PMID:21836131|PMID:22056721|PMID:22365152|PMID:22562657|PMID:22840528|PMID:23465283|PMID:23632791|PMID:24176758|PMID:24700710|PMID:25741868|PMID:25998140|PMID:27711072|PMID:28492532|PMID:28750076|PMID:32215968 12388503 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:0060319 cardiac arrest ISO RGD:731904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:28492532 12388503 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type ISO RGD:731904 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type PMID:24176758|PMID:24700710|PMID:25741868|PMID:28492532|PMID:32215968 12388503 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:0080855 Parkinsonism ISO RGD:2960 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:striatum, hippocampus (rat) PMID:15857625|REF_RGD_ID:1598645 12388503 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 1 PMID:25741868 12388503 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:731904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532 12388503 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:0111151 Prinzmetal angina ISO RGD:10835 D RGD:9068941 20200609 RGD PMID:11984590|REF_RGD_ID:1581700 12388503 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:10763 hypertension ISO RGD:2960 D RGD:9068941 20200609 RGD PMID:16051697|REF_RGD_ID:1581698 12388503 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:11446 sciatic neuropathy ISO RGD:2960 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:21907492|REF_RGD_ID:12791994 12388503 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19120683|PMID:20558321|PMID:22056721|PMID:22365152|PMID:22562657|PMID:22840528|PMID:23632791|PMID:24700710|PMID:25741868|PMID:28492532 12388503 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:3393 coronary artery disease ISO RGD:10835 D RGD:9068941 20220825 MouseDO OMIM:300464 | OMIM:607339 | OMIM:608316 | OMIM:608318 | OMIM:608320 | OMIM:608901 | OMIM:610938 | OMIM:610947 | OMIM:611139 | OMIM:612030 | OMIM:614293 | OMIM:614466 12388503 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:630 genetic disease ISO RGD:731904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12388503 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:28492532 12388503 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9000184 Ventricular Fibrillation ISO RGD:731904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19120683 12388503 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:731904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19120683 12388503 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9000528 Coronary Disease no_association ISO RGD:731904 D RGD:9068941 20200609 RGD PMID:12964027|REF_RGD_ID:1581699 12388503 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12388503 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:731904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:19120683|PMID:20558321|PMID:21215473|PMID:21836131|PMID:22056721|PMID:22365152|PMID:22562657|PMID:22840528|PMID:23465283|PMID:23632791|PMID:24176758|PMID:24700710|PMID:25741868|PMID:25998140|PMID:27711072|PMID:28492532|PMID:28750076|PMID:32215968 12388503 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9004009 Reperfusion Injury ISO RGD:2960 D RGD:9068941 20200609 RGD PMID:10708603|REF_RGD_ID:1581697 12388503 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9007 sudden infant death syndrome ISO RGD:731904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:28492532 12388503 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9007102 Myocardial Ischemia ISO RGD:2960 D RGD:9068941 20200609 RGD PMID:26591689|PMID:9399952|REF_RGD_ID:12790977|REF_RGD_ID:1598652 12388503 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9007102 Myocardial Ischemia ISO RGD:731904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12388503 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9007820 Sudden Death ISO RGD:731904 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:25741868|PMID:28492532 12388503 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2960 D RGD:9068941 20200609 RGD PMID:12234964|REF_RGD_ID:729109 12388517 DLAT dihydrolipoamide S-acetyltransferase gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:735273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 12388517 DLAT dihydrolipoamide S-acetyltransferase gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:735273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:25966638|PMID:28492532 12388517 DLAT dihydrolipoamide S-acetyltransferase gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:735273 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 12388517 DLAT dihydrolipoamide S-acetyltransferase gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:735273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 12388517 DLAT dihydrolipoamide S-acetyltransferase gene DOID:10283 prostate cancer ISO RGD:735273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12388517 DLAT dihydrolipoamide S-acetyltransferase gene DOID:1059 intellectual disability ISO RGD:735273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12388517 DLAT dihydrolipoamide S-acetyltransferase gene DOID:12704 ataxia telangiectasia ISO RGD:735273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12388517 DLAT dihydrolipoamide S-acetyltransferase gene DOID:630 genetic disease ISO RGD:735273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29093066 12388517 DLAT dihydrolipoamide S-acetyltransferase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:735273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12388517 DLAT dihydrolipoamide S-acetyltransferase gene DOID:9007102 Myocardial Ischemia ISO RGD:735273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12388517 DLAT dihydrolipoamide S-acetyltransferase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12388517 DLAT dihydrolipoamide S-acetyltransferase gene DOID:9007980 Sleep Deprivation ISO RGD:619859 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex PMID:16923172|REF_RGD_ID:2313667 12388517 DLAT dihydrolipoamide S-acetyltransferase gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:735273 D RGD:7240710 20180130 OMIM 12388517 DLAT dihydrolipoamide S-acetyltransferase gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:735273 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:16049940|PMID:16199547|PMID:17576681|PMID:20022530|PMID:25326637|PMID:25741868|PMID:28492532|PMID:29093066|PMID:9536098 12388535 ATP8B2 ATPase phospholipid transporting 8B2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1318635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12388535 ATP8B2 ATPase phospholipid transporting 8B2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1318635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12388535 ATP8B2 ATPase phospholipid transporting 8B2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1318635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12388535 ATP8B2 ATPase phospholipid transporting 8B2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1318635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 12388535 ATP8B2 ATPase phospholipid transporting 8B2 gene DOID:1540 parathyroid carcinoma ISO RGD:1318635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12388535 ATP8B2 ATPase phospholipid transporting 8B2 gene DOID:5812 MHC class II deficiency ISO RGD:1318635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12388535 ATP8B2 ATPase phospholipid transporting 8B2 gene DOID:630 genetic disease ISO RGD:1318635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12388535 ATP8B2 ATPase phospholipid transporting 8B2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12388632 LOC491263 beta-lactoglobulin-1 gene DOID:0050777 Joubert syndrome ISO RGD:1347038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12388632 LOC491263 beta-lactoglobulin-1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1347038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:25741868|PMID:28492532|PMID:31209758 12388632 LOC491263 beta-lactoglobulin-1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1347038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12388632 LOC491263 beta-lactoglobulin-1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1347038 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12388632 LOC491263 beta-lactoglobulin-1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1347038 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12388632 LOC491263 beta-lactoglobulin-1 gene DOID:0081097 Rafiq syndrome ISO RGD:1347038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12388632 LOC491263 beta-lactoglobulin-1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1347038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12388632 LOC491263 beta-lactoglobulin-1 gene DOID:3652 Leigh disease ISO RGD:1347038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12388632 LOC491263 beta-lactoglobulin-1 gene DOID:630 genetic disease ISO RGD:1347038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12388632 LOC491263 beta-lactoglobulin-1 gene DOID:9003281 Spontaneous Abortions ISO RGD:1347038 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12388632 LOC491263 beta-lactoglobulin-1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1347038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 12388632 LOC491263 beta-lactoglobulin-1 gene DOID:9008939 Breast Neoplasms ISO RGD:1347038 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22296396 12388640 LOC491793 DDB1- and CUL4-associated factor 8 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12388640 LOC491793 DDB1- and CUL4-associated factor 8 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1346743 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:22510846|PMID:23453023|PMID:24504883|PMID:28492532 12388640 LOC491793 DDB1- and CUL4-associated factor 8 gene DOID:12849 autistic disorder ISO RGD:1346743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12388640 LOC491793 DDB1- and CUL4-associated factor 8 gene DOID:630 genetic disease ISO RGD:1346743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12388640 LOC491793 DDB1- and CUL4-associated factor 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12388649 OR52A17 olfactory receptor family 52 subfamily A member 17 gene DOID:0080773 delta beta-thalassemia ISO RGD:1344467 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12388649 OR52A17 olfactory receptor family 52 subfamily A member 17 gene DOID:630 genetic disease ISO RGD:1344467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12388650 PTMA prothymosin alpha gene DOID:0060476 Perlman syndrome ISO RGD:733876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 12388650 PTMA prothymosin alpha gene DOID:0080322 polycystic kidney disease ISO RGD:62120 D RGD:9068941 20220825 MouseDO 12388650 PTMA prothymosin alpha gene DOID:0110991 Joubert syndrome 22 ISO RGD:733876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 12388650 PTMA prothymosin alpha gene DOID:3247 rhabdomyosarcoma ISO RGD:733876 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16669873 12388650 PTMA prothymosin alpha gene DOID:630 genetic disease ISO RGD:733876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12388650 PTMA prothymosin alpha gene DOID:657 adenoma ISO RGD:733876 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10822126 12388650 PTMA prothymosin alpha gene DOID:9005172 Lung Neoplasms ISO RGD:733876 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10822126 12388650 PTMA prothymosin alpha gene DOID:9452 fatty liver disease ISO RGD:733876 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15885234 12388650 PTMA prothymosin alpha gene DOID:9675 pulmonary emphysema ISO RGD:62120 D RGD:9068941 20220825 MouseDO OMIM:130700 12388665 SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:1059 intellectual disability ISO RGD:1345309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21082655 12388665 SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:2843 long QT syndrome ISO RGD:1345309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12388665 SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:5419 schizophrenia ISO RGD:1557097 D RGD:9068941 20220825 MouseDO OMIM:181500 12388665 SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:630 genetic disease ISO RGD:1345309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12388665 SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:9003129 Chromosome 3, Monosomy 3p25 ISO RGD:1345309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21082655 12388665 SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12388665 SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1345309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12388698 RNF4 ring finger protein 4 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:737478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12388698 RNF4 ring finger protein 4 gene DOID:1856 cherubism ISO RGD:737478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12388698 RNF4 ring finger protein 4 gene DOID:1932 Angelman syndrome ISO RGD:737478 D RGD:9068941 20200609 RGD mRNA:increased expression:blood (human) PMID:15014980|REF_RGD_ID:9831454 12388698 RNF4 ring finger protein 4 gene DOID:630 genetic disease ISO RGD:737478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12388698 RNF4 ring finger protein 4 gene DOID:9004207 Testicular Neoplasms ISO RGD:737478 D RGD:9068941 20200609 RGD mRNA:decreased expression:testes (human) PMID:14644130|REF_RGD_ID:9831408 12388710 CFAP410 cilia and flagella associated protein 410 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1320014 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 12388710 CFAP410 cilia and flagella associated protein 410 gene DOID:0050572 cone-rod dystrophy ISO RGD:1320014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:27596865|PMID:28492532|PMID:31456290 12388710 CFAP410 cilia and flagella associated protein 410 gene DOID:0050795 cone dystrophy ISO RGD:1320014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25741868|PMID:26167768|PMID:26974433|PMID:27596865|PMID:28041643|PMID:28422394|PMID:28492532 12388710 CFAP410 cilia and flagella associated protein 410 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1320014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12388710 CFAP410 cilia and flagella associated protein 410 gene DOID:0110266 cataract 9 multiple types ISO RGD:1320014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12388710 CFAP410 cilia and flagella associated protein 410 gene DOID:0112299 axial spondylometaphyseal dysplasia ISO RGD:1320014 D RGD:7240710 20200506 OMIM 12388710 CFAP410 cilia and flagella associated protein 410 gene DOID:0112299 axial spondylometaphyseal dysplasia ISO RGD:1320014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Axial spondylometaphyseal dysplasia PMID:11702989|PMID:20503334|PMID:21910225|PMID:23105016|PMID:25741868|PMID:26167768|PMID:26974433|PMID:27548899|PMID:27596865|PMID:28041643|PMID:28422394|PMID:28492532|PMID:33307614 12388710 CFAP410 cilia and flagella associated protein 410 gene DOID:10584 retinitis pigmentosa ISO RGD:1320014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:23105016|PMID:25741868|PMID:26167768|PMID:26974433|PMID:27596865|PMID:28041643|PMID:28422394|PMID:28492532 12388710 CFAP410 cilia and flagella associated protein 410 gene DOID:12849 autistic disorder ISO RGD:1320014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12388710 CFAP410 cilia and flagella associated protein 410 gene DOID:14791 Leber congenital amaurosis ISO RGD:1320014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 12388710 CFAP410 cilia and flagella associated protein 410 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1320014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12388710 CFAP410 cilia and flagella associated protein 410 gene DOID:8501 fundus dystrophy ISO RGD:1320014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:17576681|PMID:23105016|PMID:25741868|PMID:26167768|PMID:26974433|PMID:26992781|PMID:27548899|PMID:27596865|PMID:28041643|PMID:28422394|PMID:28492532|PMID:30029497|PMID:32036094|PMID:33307614|PMID:9536098 12388710 CFAP410 cilia and flagella associated protein 410 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320014 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12388710 CFAP410 cilia and flagella associated protein 410 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12388710 CFAP410 cilia and flagella associated protein 410 gene DOID:9007941 Retinal Dystrophy with or without Macular Staphyloma ISO RGD:1320014 D RGD:7240710 20190315 OMIM 12388710 CFAP410 cilia and flagella associated protein 410 gene DOID:9007941 Retinal Dystrophy with or without Macular Staphyloma ISO RGD:1320014 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy with or without macular staphyloma PMID:25741868|PMID:26167768|PMID:26294103|PMID:26974433|PMID:27548899|PMID:27596865|PMID:28041643|PMID:28422394|PMID:28492532|PMID:34915818 12388710 CFAP410 cilia and flagella associated protein 410 gene DOID:9263 homocystinuria ISO RGD:1320014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12388710 CFAP410 cilia and flagella associated protein 410 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12388728 EFCAB2 EF-hand calcium binding domain 2 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1604261 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12388728 EFCAB2 EF-hand calcium binding domain 2 gene DOID:0080600 COVID-19 ISO RGD:1604261 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12388728 EFCAB2 EF-hand calcium binding domain 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1604261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12388728 EFCAB2 EF-hand calcium binding domain 2 gene DOID:630 genetic disease ISO RGD:1604261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12388728 EFCAB2 EF-hand calcium binding domain 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12388745 ATL2 atlastin GTPase 2 gene DOID:0080690 RASopathy ISO RGD:1312973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12388745 ATL2 atlastin GTPase 2 gene DOID:11211 buphthalmos ISO RGD:1312973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glaucoma PMID:19234632|PMID:28492532|PMID:31251480|PMID:9097971|PMID:9497261 12388745 ATL2 atlastin GTPase 2 gene DOID:3883 Lynch syndrome ISO RGD:1312973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12388745 ATL2 atlastin GTPase 2 gene DOID:630 genetic disease ISO RGD:1312973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12388825 GNGT2 G protein subunit gamma transducin 2 gene DOID:630 genetic disease ISO RGD:1343902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12388825 GNGT2 G protein subunit gamma transducin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12388849 SULT1B1 sulfotransferase family 1B member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1354463 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12388849 SULT1B1 sulfotransferase family 1B member 1 gene DOID:630 genetic disease ISO RGD:1354463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12388849 SULT1B1 sulfotransferase family 1B member 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1354463 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12388859 RPS6 ribosomal protein S6 gene DOID:224 transient cerebral ischemia ISO RGD:3602 D RGD:9068941 20200609 RGD PMID:26556340|REF_RGD_ID:11041643 12388859 RPS6 ribosomal protein S6 gene DOID:630 genetic disease ISO RGD:735279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12388859 RPS6 ribosomal protein S6 gene DOID:684 hepatocellular carcinoma ISO RGD:735279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 12388859 RPS6 ribosomal protein S6 gene DOID:8725 vascular dementia treatment ISO RGD:3602 D RGD:9068941 20200609 RGD PMID:25767501|REF_RGD_ID:11041644 12388859 RPS6 ribosomal protein S6 gene DOID:9000217 Stomach Neoplasms ISO RGD:735279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12388859 RPS6 ribosomal protein S6 gene DOID:9000918 Disease Progression ISO RGD:735279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12388859 RPS6 ribosomal protein S6 gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:3602 D RGD:9068941 20200609 RGD PMID:22014063|REF_RGD_ID:11041642 12388859 RPS6 ribosomal protein S6 gene DOID:9007874 Liver Failure ISO RGD:3602 D RGD:9068941 20200609 RGD PMID:501300|REF_RGD_ID:11040911 12388859 RPS6 ribosomal protein S6 gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:3602 D RGD:9068941 20200709 RGD PMID:31007149|REF_RGD_ID:34888237 12388859 RPS6 ribosomal protein S6 gene DOID:9008237 Hemimegalencephaly ISO RGD:735279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemimegalencephaly 12388859 RPS6 ribosomal protein S6 gene DOID:9008939 Breast Neoplasms ISO RGD:735279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20197467 12388869 ARMC10 armadillo repeat containing 10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12388869 ARMC10 armadillo repeat containing 10 gene DOID:630 genetic disease ISO RGD:1605608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12388879 CDC42EP4 CDC42 effector protein 4 gene DOID:630 genetic disease ISO RGD:1323093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12388885 CLGN calmegin gene DOID:630 genetic disease ISO RGD:1343269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12388885 CLGN calmegin gene DOID:9007661 Dwarfism ISO RGD:1343269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12388907 BCL2L14 BCL2 like 14 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1603380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12388907 BCL2L14 BCL2 like 14 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1603380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12388907 BCL2L14 BCL2 like 14 gene DOID:10286 prostate carcinoma ISO RGD:1603380 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:14999772|REF_RGD_ID:2315712 12388907 BCL2L14 BCL2 like 14 gene DOID:630 genetic disease ISO RGD:1603380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12388938 SMYD3 SET and MYND domain containing 3 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1348508 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12388938 SMYD3 SET and MYND domain containing 3 gene DOID:13938 amenorrhea ISO RGD:1348508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12388938 SMYD3 SET and MYND domain containing 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1348508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12388938 SMYD3 SET and MYND domain containing 3 gene DOID:630 genetic disease ISO RGD:1348508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12388938 SMYD3 SET and MYND domain containing 3 gene DOID:670 amphetamine abuse ISO RGD:1348508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12388938 SMYD3 SET and MYND domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12388938 SMYD3 SET and MYND domain containing 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0050453 lissencephaly ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:16199547|PMID:23603762|PMID:25140959|PMID:25326635|PMID:25609763|PMID:25741868|PMID:28135719|PMID:28196890|PMID:28492532|PMID:29671837|PMID:33818783 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1351274 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:25741868 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1351274 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:10862709|PMID:23664119|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25741868|PMID:26100331|PMID:27549087|PMID:28196890|PMID:28492532|PMID:28554554 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0050781 Ogden syndrome ISO RGD:1351274 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Ogden syndrome PMID:25741868 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1351274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532|PMID:30504930 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0060160 childhood spinal muscular atrophy ISO RGD:1351274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070043 autosomal dominant intellectual developmental disorder 13 ISO RGD:1351274 D RGD:7240710 20180130 OMIM 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070043 autosomal dominant intellectual developmental disorder 13 ISO RGD:1351274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 13 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 13 PMID:10862709|PMID:17576681|PMID:18414213|PMID:21076407|PMID:22368300|PMID:23603762|PMID:23664119|PMID:24033266|PMID:24136616|PMID:25140959|PMID:25326635|PMID:25326637|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25609763|PMID:25700176|PMID:25741868|PMID:25741869|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26392352|PMID:26467025|PMID:27549087|PMID:28135719|PMID:28196890|PMID:28492532|PMID:28554554|PMID:28602352|PMID:29314763|PMID:29671837|PMID:29706646|PMID:30687093|PMID:32238909|PMID:9536098 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070043 autosomal dominant intellectual developmental disorder 13 ISO RGD:1351274 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 13 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 13 PMID:10862709|PMID:17576681|PMID:18414213|PMID:21076407|PMID:22368300|PMID:23603762|PMID:23664119|PMID:24033266|PMID:24136616|PMID:25140959|PMID:25326635|PMID:25326637|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25590979|PMID:25609763|PMID:25700176|PMID:25741868|PMID:25741869|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26392352|PMID:26467025|PMID:27549087|PMID:27754416|PMID:28135719|PMID:28196890|PMID:28492532|PMID:28554554|PMID:28602352|PMID:29286531|PMID:29314763|PMID:29671837|PMID:29706646|PMID:30687093|PMID:32238909|PMID:9536098 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:28492532 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070348 spinal muscular atrophy with predominant lower extremity ISO RGD:1351274 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy with lower extremity predominance PMID:23664120|PMID:25512093|PMID:25609763|PMID:25741868|PMID:26100331|PMID:27066557|PMID:29671837|PMID:32788638 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070351 spinal muscular atrophy with predominant lower extremity 1 ISO RGD:1351274 D RGD:7240710 20180704 OMIM 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070351 spinal muscular atrophy with predominant lower extremity 1 ISO RGD:1351274 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant PMID:10862709|PMID:12730604|PMID:17576681|PMID:18414213|PMID:20697106|PMID:21102439|PMID:21820100|PMID:22459677|PMID:22847149|PMID:23603762|PMID:23664119|PMID:24033266|PMID:25326635|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25609763|PMID:25700176|PMID:25741868|PMID:26100331|PMID:26344056|PMID:26392352|PMID:26467025|PMID:26846447|PMID:27331017|PMID:27549087|PMID:28196890|PMID:28492532|PMID:28554554|PMID:28602352|PMID:29314763|PMID:29379136|PMID:30122514|PMID:30168217|PMID:30687093|PMID:31364990|PMID:31618753|PMID:9536098 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0080067 Charcot-Marie-Tooth disease type 5 ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 5 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1351274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23603762 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1351274 D RGD:7240710 20180130 OMIM 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1351274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:10862709|PMID:15826937|PMID:16199547|PMID:16519653|PMID:17576681|PMID:18414213|PMID:19074350|PMID:20301532|PMID:21076407|PMID:21820100|PMID:22368300|PMID:22459677|PMID:22847149|PMID:23603762|PMID:23664119|PMID:24033266|PMID:24136616|PMID:24307404|PMID:25140959|PMID:25326635|PMID:25363760|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25590979|PMID:25609763|PMID:25700176|PMID:25741868|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26392352|PMID:26395554|PMID:26467025|PMID:26633542|PMID:26795593|PMID:26846447|PMID:27066557|PMID:27331017|PMID:27549087|PMID:27754416|PMID:28135719|PMID:28193117|PMID:28196890|PMID:28263302|PMID:28325891|PMID:28492532|PMID:28554332|PMID:28554554|PMID:28602352|PMID:28783747|PMID:29243232|PMID:29286531|PMID:29314763|PMID:29379136|PMID:29653220|PMID:29671837|PMID:30031633|PMID:30122514|PMID:30168217|PMID:30504930|PMID:30687093|PMID:31127727|PMID:31164858|PMID:31278258|PMID:31364990|PMID:31372974|PMID:31618753|PMID:31680123|PMID:32238909|PMID:32376792|PMID:32656949|PMID:32788638|PMID:32947049|PMID:35099838|PMID:9536098|PMID:9781046 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy PMID:12730604|PMID:20697106|PMID:21102439|PMID:22459677|PMID:23664120|PMID:25326635|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25609763|PMID:25741868|PMID:26100331|PMID:27066557|PMID:27549087|PMID:28492532|PMID:28554554|PMID:29671837|PMID:32788638 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:25635128 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28492532|PMID:31680123 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:1059 intellectual disability ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23603762|PMID:25741868|PMID:26100331|PMID:26392352|PMID:26467025|PMID:28166811|PMID:28196890|PMID:28492532|PMID:29671837 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:1059 intellectual disability ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar Annotator: match by term: Intellectual disability PMID:23603762|PMID:25741868|PMID:26100331|PMID:26467025|PMID:28196890|PMID:28492532|PMID:29671837|PMID:31164858 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:17576681|PMID:18414213|PMID:21820100|PMID:22847149|PMID:24033266|PMID:24136616|PMID:25025039|PMID:25741868|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26467025|PMID:28492532|PMID:29379136|PMID:30504930|PMID:9536098 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:10652 Alzheimer's disease ISO RGD:1351274 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:9402150|REF_RGD_ID:13207349 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:10907 microcephaly ISO RGD:1351274 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:23603762 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Spinal muscular atrophy PMID:25512093|PMID:28492532 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:1389 polyneuropathy ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:28492532 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1351274 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:17576681|PMID:18414213|PMID:24033266|PMID:24136616|PMID:25741868|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26467025|PMID:27066557|PMID:28492532|PMID:30031633|PMID:30504930|PMID:9536098 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:1826 epilepsy ISO RGD:1351274 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:29671837|PMID:33818783 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:2477 motor peripheral neuropathy ISO RGD:1351274 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:10862709|PMID:23664119|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25741868|PMID:26100331|PMID:27549087|PMID:28196890|PMID:28492532|PMID:28554554 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1351274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:423 myopathy ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868|PMID:26392352|PMID:26633542|PMID:28492532|PMID:30122514 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:574 peripheral nervous system disease ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10862709|PMID:25741868|PMID:26392352|PMID:28492532|PMID:30122514 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:630 genetic disease ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10862709|PMID:11250194|PMID:15826937|PMID:16519653|PMID:17576681|PMID:18414213|PMID:18466635|PMID:19074350|PMID:21076407|PMID:21820100|PMID:22368300|PMID:22398446|PMID:22426545|PMID:22459677|PMID:22847149|PMID:23603762|PMID:23664119|PMID:24033266|PMID:24136616|PMID:24307404|PMID:25363760|PMID:25417161|PMID:25470043|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25533962|PMID:25590979|PMID:25609763|PMID:25700176|PMID:25741868|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26392352|PMID:26395554|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27066557|PMID:27331017|PMID:27549087|PMID:27754416|PMID:28193117|PMID:28196890|PMID:28263302|PMID:28325891|PMID:28492532|PMID:28554554|PMID:28602352|PMID:29243232|PMID:29286531|PMID:29314763|PMID:29653220|PMID:30031633|PMID:301071|PMID:30122514|PMID:31164858|PMID:31372974|PMID:32238909|PMID:9536098|PMID:9781046 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:870 neuropathy ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10862709|PMID:25741868|PMID:26392352|PMID:28492532|PMID:30122514 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1351274 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1351274 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant PMID:18414213|PMID:24033266|PMID:25741868|PMID:26344056|PMID:26467025|PMID:28492532 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9005532 Muscle Weakness ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive muscle weakness PMID:25741868|PMID:28492532|PMID:32656949 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12388978 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25590979|PMID:25741868|PMID:27754416|PMID:28492532|PMID:29286531 12389060 GEMIN8 gem nuclear organelle associated protein 8 gene DOID:12849 autistic disorder ISO RGD:1343150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12389060 GEMIN8 gem nuclear organelle associated protein 8 gene DOID:630 genetic disease ISO RGD:1343150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389060 GEMIN8 gem nuclear organelle associated protein 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12389071 MED14 mediator complex subunit 14 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12389071 MED14 mediator complex subunit 14 gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1343127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 12389071 MED14 mediator complex subunit 14 gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1343127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 12389071 MED14 mediator complex subunit 14 gene DOID:1059 intellectual disability ISO RGD:1343127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12389071 MED14 mediator complex subunit 14 gene DOID:12849 autistic disorder ISO RGD:1343127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12389071 MED14 mediator complex subunit 14 gene DOID:289 endometriosis ISO RGD:1343127 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12389071 MED14 mediator complex subunit 14 gene DOID:630 genetic disease ISO RGD:1343127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12389071 MED14 mediator complex subunit 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12389071 MED14 mediator complex subunit 14 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1343127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 12389111 SCRN1 secernin 1 gene DOID:10283 prostate cancer ISO RGD:1348666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12389111 SCRN1 secernin 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12389111 SCRN1 secernin 1 gene DOID:630 genetic disease ISO RGD:1348666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389111 SCRN1 secernin 1 gene DOID:8398 osteoarthritis ISO RGD:1348666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12389111 SCRN1 secernin 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1348666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12389124 TRABD2A TraB domain containing 2A gene DOID:630 genetic disease ISO RGD:30305988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389140 OR51I2P olfactory receptor family 51 subfamily I member 2, pseudogene gene DOID:13938 amenorrhea ISO RGD:1346805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12389140 OR51I2P olfactory receptor family 51 subfamily I member 2, pseudogene gene DOID:630 genetic disease ISO RGD:1346805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389142 GPR12 G protein-coupled receptor 12 gene DOID:630 genetic disease ISO RGD:68465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389142 GPR12 G protein-coupled receptor 12 gene DOID:9970 obesity ISO RGD:68466 D RGD:9068941 20220825 MouseDO OMIM:601665 12389147 TMTC1 transmembrane O-mannosyltransferase targeting cadherins 1 gene DOID:0080600 COVID-19 ISO RGD:1605326 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12389147 TMTC1 transmembrane O-mannosyltransferase targeting cadherins 1 gene DOID:630 genetic disease ISO RGD:1605326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389171 CORO2B coronin 2B gene DOID:0080600 COVID-19 ISO RGD:1352370 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12389171 CORO2B coronin 2B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1352370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12389171 CORO2B coronin 2B gene DOID:2717 Bloom syndrome ISO RGD:1352370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12389171 CORO2B coronin 2B gene DOID:630 genetic disease ISO RGD:1352370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389171 CORO2B coronin 2B gene DOID:9256 colorectal cancer ISO RGD:1352370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12389187 C31H21orf91 chromosome 31 C21orf91 homolog gene DOID:10652 Alzheimer's disease ISO RGD:1352771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 12389187 C31H21orf91 chromosome 31 C21orf91 homolog gene DOID:630 genetic disease ISO RGD:1352771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389187 C31H21orf91 chromosome 31 C21orf91 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12389213 NPNT nephronectin gene DOID:0080200 bilateral renal aplasia ISO RGD:1614982 D RGD:9068941 20220825 MouseDO 12389213 NPNT nephronectin gene DOID:630 genetic disease ISO RGD:1604498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389241 PKD1L3 polycystin 1 like 3, transient receptor potential channel interacting gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1317476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12389241 PKD1L3 polycystin 1 like 3, transient receptor potential channel interacting gene DOID:630 genetic disease ISO RGD:1317476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389281 FHOD1 formin homology 2 domain containing 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1315466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12389281 FHOD1 formin homology 2 domain containing 1 gene DOID:630 genetic disease ISO RGD:1315466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389316 SYDE2 synapse defective Rho GTPase homolog 2 gene DOID:630 genetic disease ISO RGD:1602090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389328 UBQLN2 ubiquilin 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1350173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant PMID:19377476|PMID:22560112|PMID:23138764|PMID:25741868|PMID:26467025|PMID:28492532 12389328 UBQLN2 ubiquilin 2 gene DOID:0060206 amyotrophic lateral sclerosis type 15 ISO RGD:1350173 D RGD:7240710 20180130 OMIM 12389328 UBQLN2 ubiquilin 2 gene DOID:0060206 amyotrophic lateral sclerosis type 15 ISO RGD:1350173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 15 PMID:19377476|PMID:21857683|PMID:22560112|PMID:22892309|PMID:23138764|PMID:23312802|PMID:24215460|PMID:24771548|PMID:25333069|PMID:25398946|PMID:25616961|PMID:25741868|PMID:26075709|PMID:26467025|PMID:28492532|PMID:28716533|PMID:30348461|PMID:34273246 12389328 UBQLN2 ubiquilin 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12389328 UBQLN2 ubiquilin 2 gene DOID:12849 autistic disorder ISO RGD:1350173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12389328 UBQLN2 ubiquilin 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1350173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:21857683|PMID:25333069|PMID:25616961|PMID:25741868|PMID:26075709|PMID:28492532 12389328 UBQLN2 ubiquilin 2 gene DOID:630 genetic disease ISO RGD:1350173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12389328 UBQLN2 ubiquilin 2 gene DOID:8725 vascular dementia ISO RGD:1350173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 12389333 IMPG2 interphotoreceptor matrix proteoglycan 2 gene DOID:0050661 vitelliform macular dystrophy ISO RGD:1348827 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12389333 IMPG2 interphotoreceptor matrix proteoglycan 2 gene DOID:0050661 vitelliform macular dystrophy ISO RGD:1551510 D RGD:9068941 20220825 MouseDO OMIM:153700 | OMIM:153840 | OMIM:608161 | OMIM:616151 | OMIM:616152 12389333 IMPG2 interphotoreceptor matrix proteoglycan 2 gene DOID:0110371 retinitis pigmentosa 56 ISO RGD:1348827 D RGD:7240710 20180130 OMIM 12389333 IMPG2 interphotoreceptor matrix proteoglycan 2 gene DOID:0110371 retinitis pigmentosa 56 ISO RGD:1348827 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 56 PMID:20673862|PMID:24876279|PMID:25741868|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31736247 12389333 IMPG2 interphotoreceptor matrix proteoglycan 2 gene DOID:10283 prostate cancer ISO RGD:1348827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12389333 IMPG2 interphotoreceptor matrix proteoglycan 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1348827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:20673862|PMID:22277662|PMID:24876279|PMID:24938718|PMID:25085631|PMID:25741868|PMID:25999674|PMID:26355662|PMID:26667666|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30054919|PMID:30718709|PMID:31264916|PMID:9536098 12389333 IMPG2 interphotoreceptor matrix proteoglycan 2 gene DOID:4448 macular degeneration ISO RGD:1348827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:20673862|PMID:24876279|PMID:28492532|PMID:30718709 12389333 IMPG2 interphotoreceptor matrix proteoglycan 2 gene DOID:630 genetic disease ISO RGD:1348827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23265383|PMID:28492532 12389333 IMPG2 interphotoreceptor matrix proteoglycan 2 gene DOID:8501 fundus dystrophy ISO RGD:1348827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:17576681|PMID:20673862|PMID:24876279|PMID:25472526|PMID:25741868|PMID:26667666|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28644393|PMID:28771251|PMID:31264916|PMID:9536098 12389333 IMPG2 interphotoreceptor matrix proteoglycan 2 gene DOID:9002891 Vitelliform Macular Dystrophy 2 ISO RGD:1348827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 PMID:25741868|PMID:28492532 12389333 IMPG2 interphotoreceptor matrix proteoglycan 2 gene DOID:9006690 Vitelliform Macular Dystrophy 5 ISO RGD:1348827 D RGD:7240710 20180130 OMIM 12389333 IMPG2 interphotoreceptor matrix proteoglycan 2 gene DOID:9006690 Vitelliform Macular Dystrophy 5 ISO RGD:1348827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 5 PMID:20673862|PMID:24876279|PMID:25085631|PMID:25741868|PMID:25999674|PMID:26355662|PMID:28492532|PMID:28644393|PMID:31264916 12389333 IMPG2 interphotoreceptor matrix proteoglycan 2 gene DOID:9007965 Vitelliform Macular Dystrophy 3 ISO RGD:1348827 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 3 12389333 IMPG2 interphotoreceptor matrix proteoglycan 2 gene DOID:9008296 Eye Abnormalities ISO RGD:1348827 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:20673862|PMID:28041643 12389357 VPS9D1 VPS9 domain containing 1 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1352238 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12389357 VPS9D1 VPS9 domain containing 1 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1352238 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12389357 VPS9D1 VPS9 domain containing 1 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1352238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 12389357 VPS9D1 VPS9 domain containing 1 gene DOID:13636 Fanconi anemia ISO RGD:1352238 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 12389357 VPS9D1 VPS9 domain containing 1 gene DOID:14780 KBG syndrome ISO RGD:1352238 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 12389357 VPS9D1 VPS9 domain containing 1 gene DOID:630 genetic disease ISO RGD:1352238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389377 AP5S1 adaptor related protein complex 5 subunit sigma 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1345016 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12389377 AP5S1 adaptor related protein complex 5 subunit sigma 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1345016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12389377 AP5S1 adaptor related protein complex 5 subunit sigma 1 gene DOID:630 genetic disease ISO RGD:1345016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389377 AP5S1 adaptor related protein complex 5 subunit sigma 1 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1345016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 12389392 ALX4 ALX homeobox 4 gene DOID:0060285 parietal foramina ISO RGD:1320963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranium bifidum occultum 12389392 ALX4 ALX homeobox 4 gene DOID:0081044 frontonasal dysplasia ISO RGD:1320963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12389392 ALX4 ALX homeobox 4 gene DOID:0081046 frontonasal dysplasia 2 ISO RGD:1320963 D RGD:7240710 20230510 OMIM 12389392 ALX4 ALX homeobox 4 gene DOID:0081046 frontonasal dysplasia 2 ISO RGD:1320963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontonasal dysplasia 2 PMID:19692347|PMID:22140057|PMID:24668755|PMID:25741868|PMID:28492532 12389392 ALX4 ALX homeobox 4 gene DOID:1059 intellectual disability ISO RGD:1320963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12389392 ALX4 ALX homeobox 4 gene DOID:1148 polydactyly ISO RGD:1320963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9847249 12389392 ALX4 ALX homeobox 4 gene DOID:1324 lung cancer ISO RGD:1320963 D RGD:9068941 20221117 RGD DNA:hypermethylation:CpG_island: PMID:24037716|REF_RGD_ID:153344522 12389392 ALX4 ALX homeobox 4 gene DOID:2340 craniosynostosis ISO RGD:1320963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12389392 ALX4 ALX homeobox 4 gene DOID:3717 gastric adenocarcinoma severity ISO RGD:1320963 D RGD:9068941 20220825 RGD PMID:27895854|REF_RGD_ID:153344544 12389392 ALX4 ALX homeobox 4 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1320963 D RGD:9068941 20221117 RGD PMID:18978557|REF_RGD_ID:153350135 12389392 ALX4 ALX homeobox 4 gene DOID:4926 bronchiolo-alveolar adenocarcinoma ameliorates ISO RGD:1320963 D RGD:9068941 20221117 RGD PMID:24037716|REF_RGD_ID:153344522 12389392 ALX4 ALX homeobox 4 gene DOID:4992 optic nerve glioma ISO RGD:1320963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic nerve glioma PMID:25741868 12389392 ALX4 ALX homeobox 4 gene DOID:630 genetic disease ISO RGD:1320963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19692347|PMID:25741868|PMID:28492532 12389392 ALX4 ALX homeobox 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1310201 D RGD:9068941 20220818 RGD mRNA, protein:decreased expression:liver PMID:31132711|REF_RGD_ID:153323330 12389392 ALX4 ALX homeobox 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1320963 D RGD:9068941 20220818 RGD mRNA, protein:decreased expression:liver PMID:28081728|REF_RGD_ID:153323329 12389392 ALX4 ALX homeobox 4 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1320963 D RGD:9068941 20220818 RGD PMID:31132711|REF_RGD_ID:153323330 12389392 ALX4 ALX homeobox 4 gene DOID:9001441 Adenomatous Polyps severity ISO RGD:1320963 D RGD:9068941 20220825 RGD DNA:altered methylation:plasma: PMID:20140221|REF_RGD_ID:153344541 12389392 ALX4 ALX homeobox 4 gene DOID:9005172 Lung Neoplasms ISO RGD:1320963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24037716 12389392 ALX4 ALX homeobox 4 gene DOID:9005530 Craniosynostosis 5 ISO RGD:1320963 D RGD:7240710 20230510 OMIM 12389392 ALX4 ALX homeobox 4 gene DOID:9005530 Craniosynostosis 5 ISO RGD:1320963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis 5, susceptibility to PMID:22829454 12389392 ALX4 ALX homeobox 4 gene DOID:9008131 Parietal Foramina 2 ISO RGD:1320963 D RGD:7240710 20230510 OMIM 12389392 ALX4 ALX homeobox 4 gene DOID:9008131 Parietal Foramina 2 ISO RGD:1320963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parietal foramina 2 PMID:11106354|PMID:11137991|PMID:16319823|PMID:22829454|PMID:24764194|PMID:25741868|PMID:28492532 12389392 ALX4 ALX homeobox 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9847249 12389392 ALX4 ALX homeobox 4 gene DOID:9256 colorectal cancer ISO RGD:1320963 D RGD:9068941 20220819 RGD DNA:hypermethylation:serum: PMID:17101318|PMID:26918234|REF_RGD_ID:153323327|REF_RGD_ID:153344524 12389400 H1-0 H1.0 linker histone gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:736127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12389400 H1-0 H1.0 linker histone gene DOID:0080600 COVID-19 ISO RGD:736127 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12389400 H1-0 H1.0 linker histone gene DOID:0090036 myoclonic dystonia 26 ISO RGD:736127 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12389400 H1-0 H1.0 linker histone gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:736127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12389400 H1-0 H1.0 linker histone gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:736127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12389400 H1-0 H1.0 linker histone gene DOID:9119 acute myeloid leukemia ISO RGD:736127 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12389406 EVI2B ecotropic viral integration site 2B gene DOID:0111253 neurofibromatosis 1 ISO RGD:1347396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10587576|PMID:10607834|PMID:10631140|PMID:10712197|PMID:10980545|PMID:11857752|PMID:12566521|PMID:12807981|PMID:14722914|PMID:15257518|PMID:1568247|PMID:16199547|PMID:16283621|PMID:16786508|PMID:18183042|PMID:18196300|PMID:19221814|PMID:20513137|PMID:22241097|PMID:22807134|PMID:22837079|PMID:23244495|PMID:23532973|PMID:23913538|PMID:24033266|PMID:24232412|PMID:24357598|PMID:24958239|PMID:25205021|PMID:25480383|PMID:25541118|PMID:25631097|PMID:25640679|PMID:25741868|PMID:26178382|PMID:26189818|PMID:26458495|PMID:26635368|PMID:26740943|PMID:27322474|PMID:27629806|PMID:28492532|PMID:30530636|PMID:33877690|PMID:8116612|PMID:8931693|PMID:9643287 12389406 EVI2B ecotropic viral integration site 2B gene DOID:1969 cerebral palsy ISO RGD:1347396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12389406 EVI2B ecotropic viral integration site 2B gene DOID:630 genetic disease ISO RGD:1347396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389406 EVI2B ecotropic viral integration site 2B gene DOID:9008086 Developmental Disabilities ISO RGD:1347396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 12389416 MCC MCC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:1351997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8071957 12389416 MCC MCC regulator of WNT signaling pathway gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1351997 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12389416 MCC MCC regulator of WNT signaling pathway gene DOID:10283 prostate cancer ISO RGD:1351997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12389416 MCC MCC regulator of WNT signaling pathway gene DOID:1059 intellectual disability ISO RGD:1351997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8071957 12389416 MCC MCC regulator of WNT signaling pathway gene DOID:12849 autistic disorder ISO RGD:1351997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8071957 12389416 MCC MCC regulator of WNT signaling pathway gene DOID:1520 colon carcinoma ISO RGD:1351997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon 12389416 MCC MCC regulator of WNT signaling pathway gene DOID:1984 rectal benign neoplasm ISO RGD:1351997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8071957 12389416 MCC MCC regulator of WNT signaling pathway gene DOID:630 genetic disease ISO RGD:1351997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389416 MCC MCC regulator of WNT signaling pathway gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12389416 MCC MCC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1351997 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12389416 MCC MCC regulator of WNT signaling pathway gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351997 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 12389416 MCC MCC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:1351997 D RGD:7240710 20200226 OMIM 12389471 PSMB7 proteasome 20S subunit beta 7 gene DOID:0060224 atrial fibrillation ISO RGD:732115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12389471 PSMB7 proteasome 20S subunit beta 7 gene DOID:0080600 COVID-19 ISO RGD:732115 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12389471 PSMB7 proteasome 20S subunit beta 7 gene DOID:630 genetic disease ISO RGD:732115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389483 PLXNA1 plexin A1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1342576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12389483 PLXNA1 plexin A1 gene DOID:1826 epilepsy ISO RGD:1342576 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12389483 PLXNA1 plexin A1 gene DOID:630 genetic disease ISO RGD:1342576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12389483 PLXNA1 plexin A1 gene DOID:9000876 DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME ISO RGD:1342576 D RGD:7240710 20221207 OMIM 12389483 PLXNA1 plexin A1 gene DOID:9000876 DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME ISO RGD:1342576 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Dworschak-Punetha neurodevelopmental syndrome | ClinVar Annotator: match by term: PLXNA1-related neurodevelopmental disorder PMID:25741868|PMID:34054129 12389483 PLXNA1 plexin A1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342576 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:34054129 12389483 PLXNA1 plexin A1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1342576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 12389483 PLXNA1 plexin A1 gene DOID:9270 alkaptonuria ISO RGD:1342576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12389630 GDI2 GDP dissociation inhibitor 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1346683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12389630 GDI2 GDP dissociation inhibitor 2 gene DOID:14250 Down syndrome ISO RGD:1346683 D RGD:9068941 20200609 RGD protein:decreased expression:brain (human) PMID:11771757|REF_RGD_ID:13208830 12389630 GDI2 GDP dissociation inhibitor 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1346683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12389630 GDI2 GDP dissociation inhibitor 2 gene DOID:5419 schizophrenia ISO RGD:1346683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12389630 GDI2 GDP dissociation inhibitor 2 gene DOID:630 genetic disease ISO RGD:1346683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389642 RNF10 ring finger protein 10 gene DOID:630 genetic disease ISO RGD:1319543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389673 RNF14 ring finger protein 14 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605715 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12389673 RNF14 ring finger protein 14 gene DOID:0111510 Marshall syndrome ISO RGD:1605715 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Marshall syndrome PMID:25741868|PMID:28492532 12389673 RNF14 ring finger protein 14 gene DOID:630 genetic disease ISO RGD:1605715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28804758 12389673 RNF14 ring finger protein 14 gene DOID:7765 Coats disease ISO RGD:1605715 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Exudative retinopathy PMID:25741868|PMID:30459466 12389673 RNF14 ring finger protein 14 gene DOID:9002171 Diencephalic-Mesencephalic Junction Dysplasia Syndromes ISO RGD:1605715 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia | ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome PMID:22822038|PMID:25741868|PMID:30178464 12389673 RNF14 ring finger protein 14 gene DOID:9002568 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 ISO RGD:1605715 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 PMID:22822038|PMID:25741868|PMID:27164683|PMID:28492532|PMID:29556033|PMID:30178464|PMID:33527719|PMID:7774041 12389673 RNF14 ring finger protein 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 12389673 RNF14 ring finger protein 14 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605715 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12389712 SIRT5 sirtuin 5 gene DOID:630 genetic disease ISO RGD:1351920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389730 RPL13 ribosomal protein L13 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:732066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12389730 RPL13 ribosomal protein L13 gene DOID:0080027 spondyloepimetaphyseal dysplasia ISO RGD:732066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia PMID:23956136|PMID:25741868|PMID:31630789 12389730 RPL13 ribosomal protein L13 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:732066 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12389730 RPL13 ribosomal protein L13 gene DOID:13636 Fanconi anemia ISO RGD:732066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 12389730 RPL13 ribosomal protein L13 gene DOID:14780 KBG syndrome ISO RGD:732066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 12389730 RPL13 ribosomal protein L13 gene DOID:630 genetic disease ISO RGD:732066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389730 RPL13 ribosomal protein L13 gene DOID:9000217 Stomach Neoplasms ISO RGD:732066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12389730 RPL13 ribosomal protein L13 gene DOID:9000918 Disease Progression ISO RGD:732066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12389730 RPL13 ribosomal protein L13 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:732066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12389730 RPL13 ribosomal protein L13 gene DOID:9006652 Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type ISO RGD:732066 D RGD:7240710 20200226 OMIM 12389730 RPL13 ribosomal protein L13 gene DOID:9006652 Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type ISO RGD:732066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Isidor-Toutain type PMID:23956136|PMID:25741868|PMID:28492532|PMID:31630789 12389740 TRAPPC2L trafficking protein particle complex subunit 2L gene DOID:0050716 methylmalonic aciduria and homocystinuria type cblD ISO RGD:1604619 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD PMID:25741868 12389740 TRAPPC2L trafficking protein particle complex subunit 2L gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1604619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 12389740 TRAPPC2L trafficking protein particle complex subunit 2L gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1604619 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12389740 TRAPPC2L trafficking protein particle complex subunit 2L gene DOID:0111391 mucopolysaccharidosis IVA ISO RGD:1604619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:10479485|PMID:12442278|PMID:12955720|PMID:15241807|PMID:15689448|PMID:16199547|PMID:16287098|PMID:16378744|PMID:17576681|PMID:17876718|PMID:18484607|PMID:18710657|PMID:19881469|PMID:20301515|PMID:20301788|PMID:21896407|PMID:21943391|PMID:22078177|PMID:23844448|PMID:23876334|PMID:24120057|PMID:24726177|PMID:25252036|PMID:25545067|PMID:25741868|PMID:26147980|PMID:27317439|PMID:27825773|PMID:28492532|PMID:30809705|PMID:30980944|PMID:34387910|PMID:7795586|PMID:8829629|PMID:9298823|PMID:9375852|PMID:9536098 12389740 TRAPPC2L trafficking protein particle complex subunit 2L gene DOID:1059 intellectual disability ISO RGD:1604619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:32843486 12389740 TRAPPC2L trafficking protein particle complex subunit 2L gene DOID:14780 KBG syndrome ISO RGD:1604619 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:21782149|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31690835 12389740 TRAPPC2L trafficking protein particle complex subunit 2L gene DOID:630 genetic disease ISO RGD:1604619 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12389740 TRAPPC2L trafficking protein particle complex subunit 2L gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1604619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12389740 TRAPPC2L trafficking protein particle complex subunit 2L gene DOID:9009062 Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis ISO RGD:1604619 D RGD:7240710 20190315 OMIM 12389740 TRAPPC2L trafficking protein particle complex subunit 2L gene DOID:9009062 Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis ISO RGD:1604619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis PMID:21782149|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30120216|PMID:32843486 12389759 CBY1 chibby family member 1, beta catenin antagonist gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1343969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12389759 CBY1 chibby family member 1, beta catenin antagonist gene DOID:0050777 Joubert syndrome ISO RGD:1343969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:33131181 12389759 CBY1 chibby family member 1, beta catenin antagonist gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1343969 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12389759 CBY1 chibby family member 1, beta catenin antagonist gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1343969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12389759 CBY1 chibby family member 1, beta catenin antagonist gene DOID:10283 prostate cancer ISO RGD:1343969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12389759 CBY1 chibby family member 1, beta catenin antagonist gene DOID:10754 otitis media ISO RGD:1616726 D RGD:9068941 20220825 MouseDO OMIM:166760 12389759 CBY1 chibby family member 1, beta catenin antagonist gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12389759 CBY1 chibby family member 1, beta catenin antagonist gene DOID:630 genetic disease ISO RGD:1343969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389759 CBY1 chibby family member 1, beta catenin antagonist gene DOID:9562 primary ciliary dyskinesia ISO RGD:1616726 D RGD:9068941 20220825 MouseDO 12389778 OSTF1 osteoclast stimulating factor 1 gene DOID:630 genetic disease ISO RGD:733236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389793 OR7A26 olfactory receptor family 7 subfamily A member 26 gene DOID:630 genetic disease ISO RGD:1353918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389796 PLCD1 phospholipase C delta 1 gene DOID:0050451 Brugada syndrome ISO RGD:733331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 12389796 PLCD1 phospholipase C delta 1 gene DOID:0080081 nonsyndromic congenital nail disorder 3 ISO RGD:733331 D RGD:7240710 20180130 OMIM 12389796 PLCD1 phospholipase C delta 1 gene DOID:0080081 nonsyndromic congenital nail disorder 3 ISO RGD:733331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 3 PMID:21665001|PMID:25741868 12389796 PLCD1 phospholipase C delta 1 gene DOID:10652 Alzheimer's disease ISO RGD:733331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early onset PMID:25741868 12389796 PLCD1 phospholipase C delta 1 gene DOID:10763 hypertension ISO RGD:3346 D RGD:9068941 20200609 RGD protein:increased activity:aorta PMID:1313006|REF_RGD_ID:2300423 12389796 PLCD1 phospholipase C delta 1 gene DOID:10763 hypertension ISO RGD:3346 D RGD:9068941 20200609 RGD protein:increased expression:aorta, arteriole, glomerulus PMID:17198910|REF_RGD_ID:2300421 12389796 PLCD1 phospholipase C delta 1 gene DOID:6000 congestive heart failure ISO RGD:3346 D RGD:9068941 20200609 RGD PMID:11181012|REF_RGD_ID:2300431 12389796 PLCD1 phospholipase C delta 1 gene DOID:630 genetic disease ISO RGD:733331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389796 PLCD1 phospholipase C delta 1 gene DOID:8398 osteoarthritis ISO RGD:733331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12389796 PLCD1 phospholipase C delta 1 gene DOID:9004464 Skin Neoplasms ISO RGD:1553559 D RGD:9068941 20200609 RGD PMID:12805213|REF_RGD_ID:1302551 12389796 PLCD1 phospholipase C delta 1 gene DOID:9006024 Hypotension susceptibility ISO RGD:3346 D RGD:9068941 20200609 RGD DNA:missense mutation PMID:1358065|REF_RGD_ID:2300422 12389796 PLCD1 phospholipase C delta 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:3346 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:15276620|REF_RGD_ID:2300429 12389796 PLCD1 phospholipase C delta 1 gene DOID:9007480 Hyperoxia ISO RGD:3346 D RGD:9068941 20200609 RGD protein:altered localization PMID:12850505|REF_RGD_ID:1299008 12389796 PLCD1 phospholipase C delta 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3346 D RGD:9068941 20200609 RGD protein:altered activity PMID:12623065|REF_RGD_ID:1304368 12389796 PLCD1 phospholipase C delta 1 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:733331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 12389796 PLCD1 phospholipase C delta 1 gene DOID:987 alopecia ISO RGD:1553559 D RGD:9068941 20200609 RGD PMID:12805213|REF_RGD_ID:1302551 12389818 KCNG1 potassium voltage-gated channel modifier subfamily G member 1 gene DOID:630 genetic disease ISO RGD:1604067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389824 ZNF70 zinc finger protein 70 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1351626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 12389824 ZNF70 zinc finger protein 70 gene DOID:1826 epilepsy ISO RGD:1351626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12389824 ZNF70 zinc finger protein 70 gene DOID:5419 schizophrenia ISO RGD:1351626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12389824 ZNF70 zinc finger protein 70 gene DOID:630 genetic disease ISO RGD:1351626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389833 SOWAHB sosondowah ankyrin repeat domain family member B gene DOID:630 genetic disease ISO RGD:1605533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389833 SOWAHB sosondowah ankyrin repeat domain family member B gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1605533 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12389838 SFTPD surfactant protein D gene DOID:0050127 sinusitis ISO RGD:735702 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;mRNA:increased expression:respiratory system mucosa PMID:17599561|REF_RGD_ID:4143506 12389838 SFTPD surfactant protein D gene DOID:0060071 pre-malignant neoplasm ISO RGD:735702 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:18779194|REF_RGD_ID:4143498 12389838 SFTPD surfactant protein D gene DOID:0080599 Coronavirus infectious disease ISO RGD:3667 D RGD:9068941 20200609 RGD Severe Acute Respiratory Syndrome;protein:increased expression:lung PMID:19741068|REF_RGD_ID:4143520 12389838 SFTPD surfactant protein D gene DOID:11335 sarcoidosis ISO RGD:735702 D RGD:9068941 20200609 RGD associated with Uveitis;protein:increased expression:serum PMID:20151281|REF_RGD_ID:4143491 12389838 SFTPD surfactant protein D gene DOID:11339 pneumocystosis ISO RGD:11287 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11385364|REF_RGD_ID:4143431 12389838 SFTPD surfactant protein D gene DOID:11394 adult respiratory distress syndrome ISO RGD:735702 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:10588595|REF_RGD_ID:4143436 12389838 SFTPD surfactant protein D gene DOID:11650 bronchopulmonary dysplasia ISO RGD:735702 D RGD:9068941 20200609 RGD PMID:17264398|REF_RGD_ID:4143384 12389838 SFTPD surfactant protein D gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:735702 D RGD:9068941 20200609 RGD associated with Acquired Immunodeficiency Syndrome;protein:increased expression:lung PMID:16849999|REF_RGD_ID:4143461 12389838 SFTPD surfactant protein D gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:735702 D RGD:9068941 20200609 RGD protein:increased expression:blood, lung PMID:19046553|REF_RGD_ID:4143497 12389838 SFTPD surfactant protein D gene DOID:12716 newborn respiratory distress syndrome ISO RGD:3667 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11504697|REF_RGD_ID:4143428 12389838 SFTPD surfactant protein D gene DOID:12716 newborn respiratory distress syndrome susceptibility ISO RGD:735702 D RGD:9068941 20200609 RGD DNA:SNP: :p.A160T (human) PMID:17524024|REF_RGD_ID:4143507 12389838 SFTPD surfactant protein D gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:735702 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:10194154|REF_RGD_ID:4143439 12389838 SFTPD surfactant protein D gene DOID:1273 respiratory syncytial virus infectious disease susceptibility ISO RGD:735702 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.M11T, p.A160T (human PMID:19287351|REF_RGD_ID:4143495 12389838 SFTPD surfactant protein D gene DOID:1485 cystic fibrosis ISO RGD:735702 D RGD:9068941 20200609 RGD protein:decreased expression, altered degradation:lung PMID:18211966|REF_RGD_ID:4143502 12389838 SFTPD surfactant protein D gene DOID:2799 bronchiolitis obliterans ISO RGD:735702 D RGD:9068941 20200609 RGD PMID:18347569|REF_RGD_ID:4143500 12389838 SFTPD surfactant protein D gene DOID:2841 asthma ISO RGD:11287 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11472974|REF_RGD_ID:4143465 12389838 SFTPD surfactant protein D gene DOID:2841 asthma ISO RGD:3667 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:18802356|REF_RGD_ID:4143516 12389838 SFTPD surfactant protein D gene DOID:2841 asthma ISO RGD:735702 D RGD:9068941 20200609 RGD PMID:16839409|REF_RGD_ID:4143508 12389838 SFTPD surfactant protein D gene DOID:2841 asthma ISO RGD:735702 D RGD:9068941 20200609 RGD associated with Bronchitis;protein:increased expression:lung PMID:18266831|REF_RGD_ID:4143517 12389838 SFTPD surfactant protein D gene DOID:2841 asthma ISO RGD:735702 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:16629790|REF_RGD_ID:4143462 12389838 SFTPD surfactant protein D gene DOID:2914 immune system disease ISO RGD:11287 D RGD:9068941 20200609 RGD associated with Pneumonia, Pneumocystis carinii;protein:increased expression, increased nitrosylation:lung PMID:19201882|REF_RGD_ID:4143286 12389838 SFTPD surfactant protein D gene DOID:3082 interstitial lung disease ISO RGD:735702 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;protein:increased expression:serum PMID:19286849|REF_RGD_ID:4143496 12389838 SFTPD surfactant protein D gene DOID:3082 interstitial lung disease ISO RGD:735702 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9216212|REF_RGD_ID:4143449 12389838 SFTPD surfactant protein D gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28166215 12389838 SFTPD surfactant protein D gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735702 D RGD:9068941 20200609 RGD PMID:18310480|REF_RGD_ID:4143501 12389838 SFTPD surfactant protein D gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735702 D RGD:9068941 20200609 RGD DNA:SNP: :p.A160T (human) PMID:19797132|REF_RGD_ID:4143281 12389838 SFTPD surfactant protein D gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:735702 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20075511|REF_RGD_ID:4143492 12389838 SFTPD surfactant protein D gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:735702 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:20448057|REF_RGD_ID:4143487 12389838 SFTPD surfactant protein D gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735702 D RGD:9068941 20200609 RGD PMID:20401612|REF_RGD_ID:4143490 12389838 SFTPD surfactant protein D gene DOID:4483 rhinitis susceptibility ISO RGD:735702 D RGD:9068941 20200609 RGD associated with Hypersensitivity;DNA:polymorphism: :p.M11T (human) PMID:19493231|REF_RGD_ID:4143494 12389838 SFTPD surfactant protein D gene DOID:552 pneumonia ISO RGD:11287 D RGD:9068941 20200609 RGD PMID:15967375|PMID:17925426|REF_RGD_ID:4143394|REF_RGD_ID:4143504 12389838 SFTPD surfactant protein D gene DOID:552 pneumonia ISO RGD:735702 D RGD:9068941 20200609 RGD PMID:17925426|REF_RGD_ID:4143504 12389838 SFTPD surfactant protein D gene DOID:552 pneumonia ISO RGD:735702 D RGD:9068941 20200609 RGD associated with Bronchitis;protein:decreased expression:lung PMID:18266831|REF_RGD_ID:4143517 12389838 SFTPD surfactant protein D gene DOID:630 genetic disease ISO RGD:735702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389838 SFTPD surfactant protein D gene DOID:850 lung disease ISO RGD:11287 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:20639460|REF_RGD_ID:4143256 12389838 SFTPD surfactant protein D gene DOID:850 lung disease ISO RGD:3667 D RGD:9068941 20200609 RGD Lung Injury PMID:17616020|REF_RGD_ID:4143505 12389838 SFTPD surfactant protein D gene DOID:850 lung disease ISO RGD:735702 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:17974096|REF_RGD_ID:4143503 12389838 SFTPD surfactant protein D gene DOID:850 lung disease disease_progression ISO RGD:735702 D RGD:9068941 20200609 RGD Acute Lung Injury;protein:increased expression:plasma PMID:20435656|REF_RGD_ID:4143488 12389838 SFTPD surfactant protein D gene DOID:874 bacterial pneumonia ISO RGD:3667 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:12169586|REF_RGD_ID:4143464 12389838 SFTPD surfactant protein D gene DOID:874 bacterial pneumonia ISO RGD:735702 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;protein:decreased expression:lung PMID:15271694|REF_RGD_ID:4143403 12389838 SFTPD surfactant protein D gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:11287 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:14748931|REF_RGD_ID:4143407 12389838 SFTPD surfactant protein D gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:3667 D RGD:9068941 20200609 RGD PMID:12882759|REF_RGD_ID:4144051 12389838 SFTPD surfactant protein D gene DOID:9001488 Human Influenza ISO RGD:11287 D RGD:9068941 20200609 RGD PMID:16787926|REF_RGD_ID:4143518 12389838 SFTPD surfactant protein D gene DOID:9001488 Human Influenza ISO RGD:3667 D RGD:9068941 20200609 RGD PMID:16787926|REF_RGD_ID:4143518 12389838 SFTPD surfactant protein D gene DOID:9002106 Pneumococcal Pneumonia severity ISO RGD:11287 D RGD:9068941 20200609 RGD PMID:16255775|REF_RGD_ID:4143519 12389838 SFTPD surfactant protein D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12389838 SFTPD surfactant protein D gene DOID:9004610 Acute Lung Injury ISO RGD:735702 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30060251 12389838 SFTPD surfactant protein D gene DOID:9005172 Lung Neoplasms ISO RGD:735702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14522914|PMID:15136449 12389838 SFTPD surfactant protein D gene DOID:9005724 Fungal Lung Diseases ISO RGD:735702 D RGD:9068941 20200609 RGD PMID:20413160|REF_RGD_ID:4143489 12389838 SFTPD surfactant protein D gene DOID:9005724 Fungal Lung Diseases susceptibility ISO RGD:11287 D RGD:9068941 20200609 RGD PMID:20413160|REF_RGD_ID:4143489 12389838 SFTPD surfactant protein D gene DOID:9007480 Hyperoxia ISO RGD:3667 D RGD:9068941 20200609 RGD PMID:18635887|REF_RGD_ID:4143499 12389838 SFTPD surfactant protein D gene DOID:9007480 Hyperoxia ISO RGD:3667 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:11472975|REF_RGD_ID:4143429 12389838 SFTPD surfactant protein D gene DOID:9007480 Hyperoxia resistance ISO RGD:11287 D RGD:9068941 20200609 RGD PMID:17158597|REF_RGD_ID:4143385 12389838 SFTPD surfactant protein D gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:735702 D RGD:9068941 20200609 RGD PMID:20459699|REF_RGD_ID:4143486 12389838 SFTPD surfactant protein D gene DOID:9074 systemic lupus erythematosus ISO RGD:735702 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19833760|REF_RGD_ID:4143493 12389850 UBE2A ubiquitin conjugating enzyme E2 A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12389850 UBE2A ubiquitin conjugating enzyme E2 A gene DOID:0060820 syndromic X-linked intellectual disability Nascimento type ISO RGD:1346006 D RGD:7240710 20180130 OMIM 12389850 UBE2A ubiquitin conjugating enzyme E2 A gene DOID:0060820 syndromic X-linked intellectual disability Nascimento type ISO RGD:1346006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Nascimento type PMID:16909393|PMID:20412111|PMID:25741868 12389850 UBE2A ubiquitin conjugating enzyme E2 A gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1346006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 12389850 UBE2A ubiquitin conjugating enzyme E2 A gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1346006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 12389850 UBE2A ubiquitin conjugating enzyme E2 A gene DOID:12849 autistic disorder ISO RGD:1346006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12389850 UBE2A ubiquitin conjugating enzyme E2 A gene DOID:630 genetic disease ISO RGD:1346006 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12389860 KCTD11 potassium channel tetramerization domain containing 11 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1316133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12389860 KCTD11 potassium channel tetramerization domain containing 11 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1316133 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12389860 KCTD11 potassium channel tetramerization domain containing 11 gene DOID:1059 intellectual disability ISO RGD:1316133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12389860 KCTD11 potassium channel tetramerization domain containing 11 gene DOID:12177 common variable immunodeficiency ISO RGD:1316133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12389860 KCTD11 potassium channel tetramerization domain containing 11 gene DOID:2729 dyskeratosis congenita ISO RGD:1316133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12389860 KCTD11 potassium channel tetramerization domain containing 11 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1316133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12389860 KCTD11 potassium channel tetramerization domain containing 11 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1316133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12389860 KCTD11 potassium channel tetramerization domain containing 11 gene DOID:630 genetic disease ISO RGD:1316133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389865 CDC42SE1 CDC42 small effector 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1346360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12389865 CDC42SE1 CDC42 small effector 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1346360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12389865 CDC42SE1 CDC42 small effector 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1346360 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12389865 CDC42SE1 CDC42 small effector 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1346360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12389865 CDC42SE1 CDC42 small effector 1 gene DOID:5812 MHC class II deficiency ISO RGD:1346360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12389865 CDC42SE1 CDC42 small effector 1 gene DOID:630 genetic disease ISO RGD:1346360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389865 CDC42SE1 CDC42 small effector 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12389865 CDC42SE1 CDC42 small effector 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12389879 ALKBH5 alkB homolog 5, RNA demethylase gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1603209 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 12389879 ALKBH5 alkB homolog 5, RNA demethylase gene DOID:0050777 Joubert syndrome ISO RGD:1603209 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12389879 ALKBH5 alkB homolog 5, RNA demethylase gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1603209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12389879 ALKBH5 alkB homolog 5, RNA demethylase gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1603209 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12389879 ALKBH5 alkB homolog 5, RNA demethylase gene DOID:10591 pre-eclampsia ISO RGD:1603209 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34995009 12389879 ALKBH5 alkB homolog 5, RNA demethylase gene DOID:12849 autistic disorder ISO RGD:1603209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12389879 ALKBH5 alkB homolog 5, RNA demethylase gene DOID:630 genetic disease ISO RGD:1603209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389879 ALKBH5 alkB homolog 5, RNA demethylase gene DOID:9538 multiple myeloma ISO RGD:1603209 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038059 12389887 SLC39A9 solute carrier family 39 member 9 gene DOID:630 genetic disease ISO RGD:1322587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389903 CCDC85B coiled-coil domain containing 85B gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1605406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 12389903 CCDC85B coiled-coil domain containing 85B gene DOID:1059 intellectual disability ISO RGD:1605406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12389903 CCDC85B coiled-coil domain containing 85B gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605406 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12389903 CCDC85B coiled-coil domain containing 85B gene DOID:2746 glycogen storage disease V ISO RGD:1605406 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12389903 CCDC85B coiled-coil domain containing 85B gene DOID:630 genetic disease ISO RGD:1605406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389903 CCDC85B coiled-coil domain containing 85B gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1605406 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12389903 CCDC85B coiled-coil domain containing 85B gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1605406 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12389908 KCNAB1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 gene DOID:10763 hypertension ISO RGD:61827 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta, arteries (rat) PMID:11358947|REF_RGD_ID:1627659 12389908 KCNAB1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 gene DOID:3328 temporal lobe epilepsy susceptibility ISO RGD:1607081 D RGD:9068941 20200609 RGD DNA:snps, haplotypes:multiple (human) PMID:21333500|REF_RGD_ID:9743959 12389908 KCNAB1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 gene DOID:630 genetic disease ISO RGD:1607081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389908 KCNAB1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 gene DOID:9002669 Hypoxia ISO RGD:62118 D RGD:9068941 20200609 RGD mRNA:decreased expression:carotid body (mouse) PMID:15890701|REF_RGD_ID:9743958 12389935 ZGLP1 zinc finger GATA like protein 1 gene DOID:630 genetic disease ISO RGD:3418338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389947 TMEM40 transmembrane protein 40 gene DOID:0080549 Noonan syndrome with multiple lentigines 2 ISO RGD:1343546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 2 12389947 TMEM40 transmembrane protein 40 gene DOID:0080690 RASopathy ISO RGD:1343546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12389947 TMEM40 transmembrane protein 40 gene DOID:630 genetic disease ISO RGD:1343546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389973 C11H5orf63 chromosome 11 C5orf63 homolog gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:5132119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12389973 C11H5orf63 chromosome 11 C5orf63 homolog gene DOID:303 substance-related disorder ISO RGD:5132119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12389973 C11H5orf63 chromosome 11 C5orf63 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:5132119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12389973 C11H5orf63 chromosome 11 C5orf63 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:5132119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12389973 C11H5orf63 chromosome 11 C5orf63 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:5132119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12389990 CXHXorf65 chromosome X CXorf65 homolog gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12389990 CXHXorf65 chromosome X CXorf65 homolog gene DOID:12849 autistic disorder ISO RGD:1606442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12389990 CXHXorf65 chromosome X CXorf65 homolog gene DOID:630 genetic disease ISO RGD:1606442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12389990 CXHXorf65 chromosome X CXorf65 homolog gene DOID:9007898 FG Syndrome 1 ISO RGD:1606442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 12390015 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:0060019 coronin-1A deficiency ISO RGD:1601852 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:28492532 12390015 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1601852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12390015 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1601852 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12390015 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1601852 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12390015 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1601852 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12390015 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1601852 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12390015 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1601852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12390015 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:1882 atrial heart septal defect ISO RGD:1601852 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12390015 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:5419 schizophrenia ISO RGD:1601852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12390015 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:630 genetic disease ISO RGD:1601852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12390015 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12390015 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1601852 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12390015 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1601852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12390015 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:9455 lipid storage disease ISO RGD:1601852 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557 12390036 ACAD11 acyl-CoA dehydrogenase family member 11 gene DOID:0080424 developmental and epileptic encephalopathy 44 ISO RGD:1604580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 44 PMID:25741868 12390036 ACAD11 acyl-CoA dehydrogenase family member 11 gene DOID:12712 nephronophthisis ISO RGD:1604580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 12390036 ACAD11 acyl-CoA dehydrogenase family member 11 gene DOID:630 genetic disease ISO RGD:1604580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12390036 ACAD11 acyl-CoA dehydrogenase family member 11 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12390036 ACAD11 acyl-CoA dehydrogenase family member 11 gene DOID:9270 alkaptonuria ISO RGD:1604580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12390063 MIR301A microRNA mir-301a gene DOID:0050436 mulibrey nanism ISO RGD:1345841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mulibrey nanism syndrome PMID:21681106 12390063 MIR301A microRNA mir-301a gene DOID:14330 Parkinson's disease ISO RGD:1345841 D RGD:9068941 20200609 RGD PMID:22003392|REF_RGD_ID:10755479 12390063 MIR301A microRNA mir-301a gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345841 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35305058 12390063 MIR301A microRNA mir-301a gene DOID:6000 congestive heart failure ISO RGD:1345841 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12390063 MIR301A microRNA mir-301a gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1345841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12390063 MIR301A microRNA mir-301a gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12390063 MIR301A microRNA mir-301a gene DOID:9008939 Breast Neoplasms ISO RGD:1345841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29763890 12390100 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0050650 familial atrial fibrillation ISO RGD:731917 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation PMID:25741868 12390100 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:731917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12390100 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0060224 atrial fibrillation ISO RGD:731917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:15368194|PMID:16487223|PMID:18006559|PMID:22581653|PMID:24681347|PMID:25741868|PMID:28492532 12390100 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0060898 Parkinson's disease 20 ISO RGD:731917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12390100 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:731917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12390100 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:731917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:15368194|PMID:16487223|PMID:22581653|PMID:24681347|PMID:25741868|PMID:28492532 12390100 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:731917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10219239|PMID:10220144|PMID:10984545|PMID:14760488|PMID:15368194|PMID:15840476|PMID:16922724|PMID:17275752|PMID:18006462|PMID:19219384|PMID:19716085|PMID:20042375|PMID:20817017|PMID:22166675|PMID:22378279|PMID:22581653|PMID:22677073|PMID:23631430|PMID:23631727|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24403551|PMID:24569893|PMID:24631775|PMID:24796621|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26123744|PMID:26159999|PMID:26220970|PMID:26633542|PMID:26859003|PMID:27435932|PMID:27465075|PMID:27650965|PMID:27920829|PMID:28492532|PMID:28600387|PMID:28794082|PMID:29661707|PMID:29805884|PMID:30847666|PMID:30986657|PMID:31235733|PMID:31447099|PMID:31535183|PMID:31737537|PMID:32268277|PMID:33626434 12390100 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0110648 long QT syndrome 6 ISO RGD:731917 D RGD:7240710 20180130 OMIM 12390100 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0110648 long QT syndrome 6 ISO RGD:731917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 | ClinVar Annotator: match by term: Long QT syndrome 6, acquired, susceptibility to PMID:10219239|PMID:10220144|PMID:10973849|PMID:10984545|PMID:11034315|PMID:11101505|PMID:11468227|PMID:12185453|PMID:12402336|PMID:12923204|PMID:14661677|PMID:14760488|PMID:15368194|PMID:15599693|PMID:15840476|PMID:15913580|PMID:16000071|PMID:16414944|PMID:16487223|PMID:16922724|PMID:17161064|PMID:17210839|PMID:17275752|PMID:18006462|PMID:19219384|PMID:19716085|PMID:19841298|PMID:19863579|PMID:20042375|PMID:20817017|PMID:20981092|PMID:21626672|PMID:22166675|PMID:22378279|PMID:22581653|PMID:22677073|PMID:23098067|PMID:23382499|PMID:23465283|PMID:23631430|PMID:23631727|PMID:23861362|PMID:23890619|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24144883|PMID:24403551|PMID:24569893|PMID:24606995|PMID:24631775|PMID:24681347|PMID:24796621|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25640679|PMID:25741868|PMID:26123744|PMID:26159999|PMID:26220970|PMID:26284702|PMID:26633542|PMID:26859003|PMID:27435932|PMID:27465075|PMID:27650965|PMID:27884173|PMID:27920829|PMID:28341588|PMID:28492532|PMID:28600387|PMID:28794082|PMID:29544605|PMID:29661707|PMID:29805884|PMID:30847666|PMID:30986657|PMID:31235733|PMID:31447099|PMID:31535183|PMID:31589614|PMID:31690835|PMID:31737537|PMID:32078429|PMID:32268277|PMID:33626434 12390100 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731917 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10220144|PMID:15368194|PMID:15840476|PMID:18006462|PMID:20817017|PMID:22166675|PMID:22581653|PMID:22677073|PMID:23631430|PMID:24033266|PMID:24403551|PMID:24796621|PMID:25741868|PMID:26123744|PMID:26633542|PMID:27650965|PMID:27920829|PMID:28492532|PMID:28600387|PMID:28794082|PMID:29805884|PMID:32268277 12390100 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:731917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 12390100 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:1588 thrombocytopenia ISO RGD:731917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 12390100 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:2843 long QT syndrome ISO RGD:731917 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:10219239|PMID:10220144|PMID:10984545|PMID:11468227|PMID:12185453|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15599693|PMID:15840476|PMID:16922724|PMID:17161064|PMID:17210839|PMID:17275752|PMID:18006462|PMID:19716085|PMID:20042375|PMID:20817017|PMID:22378279|PMID:22581653|PMID:22677073|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24403551|PMID:24606995|PMID:24631775|PMID:25333069|PMID:25637381|PMID:25640679|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26633542|PMID:27435932|PMID:27650965|PMID:27920829|PMID:28166811|PMID:28492532|PMID:28600387|PMID:28794082|PMID:30986657|PMID:31535183 12390100 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:2843 long QT syndrome ISO RGD:731917 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:10219239|PMID:10220144|PMID:10984545|PMID:11468227|PMID:12185453|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15368194|PMID:15599693|PMID:15840476|PMID:15913580|PMID:16922724|PMID:17161064|PMID:17210839|PMID:17275752|PMID:18006462|PMID:19716085|PMID:20042375|PMID:20817017|PMID:22166675|PMID:22378279|PMID:22581653|PMID:22677073|PMID:23465283|PMID:23631430|PMID:23631727|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24403551|PMID:24569893|PMID:24631775|PMID:24796621|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25640679|PMID:25741868|PMID:26123744|PMID:26159999|PMID:26220970|PMID:26633542|PMID:26859003|PMID:27435932|PMID:27465075|PMID:27650965|PMID:27920829|PMID:28492532|PMID:28600387|PMID:28794082|PMID:29661707|PMID:29805884|PMID:30847666|PMID:30986657|PMID:31447099|PMID:31535183|PMID:31589614|PMID:32268277 12390100 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:2843 long QT syndrome ISO RGD:731917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:10219239|PMID:10220144|PMID:10984545|PMID:11468227|PMID:12185453|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15368194|PMID:15599693|PMID:15840476|PMID:15913580|PMID:16922724|PMID:17161064|PMID:17210839|PMID:17275752|PMID:18006462|PMID:19219384|PMID:19716085|PMID:20042375|PMID:20817017|PMID:22166675|PMID:22378279|PMID:22581653|PMID:22677073|PMID:23465283|PMID:23631430|PMID:23631727|PMID:23861362|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24403551|PMID:24569893|PMID:24606995|PMID:24631775|PMID:24796621|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25640679|PMID:25741868|PMID:26123744|PMID:26159999|PMID:26220970|PMID:26633542|PMID:26859003|PMID:27435932|PMID:27465075|PMID:27650965|PMID:27920829|PMID:28492532|PMID:28600387|PMID:28794082|PMID:29661707|PMID:29805884|PMID:30847666|PMID:30986657|PMID:31235733|PMID:31447099|PMID:31535183|PMID:31589614|PMID:31737537|PMID:32268277|PMID:33626434 12390100 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:3393 coronary artery disease ISO RGD:731917 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 12390100 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10219239|PMID:10973849|PMID:10984545|PMID:11034315|PMID:11101505|PMID:14760488|PMID:16922724|PMID:19219384|PMID:19716085|PMID:19841298|PMID:19863579|PMID:20042375|PMID:22378279|PMID:22581653|PMID:23098067|PMID:23382499|PMID:23631727|PMID:23861362|PMID:23936059|PMID:24055113|PMID:24144883|PMID:24569893|PMID:24606995|PMID:24631775|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26159999|PMID:26284702|PMID:26859003|PMID:27884173|PMID:28341588|PMID:28492532|PMID:28794082|PMID:29661707|PMID:31235733|PMID:31447099|PMID:31737537|PMID:33626434 12390100 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:731917 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10219239 12390100 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9002643 Long QT Syndrome 3/6 ISO RGD:731917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 3/6, digenic PMID:16922724|PMID:22581653 12390100 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:731917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy PMID:18478040|PMID:18487507|PMID:19357396|PMID:19679353|PMID:21626672|PMID:28492532 12390100 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:731917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10219239|PMID:10220144|PMID:10984545|PMID:14760488|PMID:15368194|PMID:15840476|PMID:16922724|PMID:17275752|PMID:18006462|PMID:19219384|PMID:19716085|PMID:20042375|PMID:20817017|PMID:22166675|PMID:22378279|PMID:22581653|PMID:22677073|PMID:23631430|PMID:23631727|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24403551|PMID:24569893|PMID:24631775|PMID:24796621|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26123744|PMID:26159999|PMID:26220970|PMID:26633542|PMID:26859003|PMID:27435932|PMID:27465075|PMID:27650965|PMID:27920829|PMID:28492532|PMID:28600387|PMID:28794082|PMID:29661707|PMID:29805884|PMID:30847666|PMID:30986657|PMID:31235733|PMID:31447099|PMID:31535183|PMID:31737537|PMID:32268277|PMID:33626434 12390100 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9005392 Familial Atrial Fibrillation 4 ISO RGD:731917 D RGD:7240710 20180130 OMIM 12390100 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9005392 Familial Atrial Fibrillation 4 ISO RGD:731917 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 4 PMID:10219239|PMID:10973849|PMID:10984545|PMID:11034315|PMID:11101505|PMID:12923204|PMID:14661677|PMID:14760488|PMID:15368194|PMID:16000071|PMID:16487223|PMID:16922724|PMID:17210839|PMID:17275752|PMID:19219384|PMID:19716085|PMID:19841298|PMID:19863579|PMID:20042375|PMID:20981092|PMID:22378279|PMID:22581653|PMID:23098067|PMID:23382499|PMID:23465283|PMID:23631430|PMID:23861362|PMID:23890619|PMID:24055113|PMID:24144883|PMID:24606995|PMID:24631775|PMID:24681347|PMID:24796621|PMID:25637381|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26284702|PMID:27435932|PMID:27465075|PMID:27884173|PMID:28341588|PMID:28492532|PMID:28794082|PMID:29544605|PMID:30847666|PMID:30986657|PMID:31535183 12390100 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621383 D RGD:9068941 20200609 RGD mRNA:decreased expression:left heart ventricle PMID:19267230|REF_RGD_ID:7243942 12390100 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9005698 ZTTK Syndrome ISO RGD:731917 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:0050848 obstructive sleep apnea ISO RGD:632283 D RGD:9068941 20200609 RGD protein:decreased expression:growth plate: PMID:26943473|REF_RGD_ID:11573409 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:0060180 colitis ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19617644 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:730950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:0080011 bone resorption disease ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29477364 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:0080074 neural tube defect ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17400914 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:10808 gastric ulcer ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15177919|PMID:16259727 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:11981 morbid obesity ISO RGD:730950 D RGD:9068941 20200609 RGD PMID:19188925|REF_RGD_ID:2313745 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:11983 Prader-Willi syndrome ISO RGD:730950 D RGD:9068941 20200609 RGD PMID:15057669|REF_RGD_ID:12905043 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:1287 cardiovascular system disease ISO RGD:730950 D RGD:9068941 20200609 RGD In dialysis patients PMID:20930430|REF_RGD_ID:7242429 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:1596 depressive disorder ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19272368 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:299 adenocarcinoma ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:3021 acute kidney failure ISO RGD:732655 D RGD:9068941 20200609 RGD PMID:19625378|REF_RGD_ID:7242430 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:3125 multiple endocrine neoplasia ISO RGD:632283 D RGD:9068941 20200609 RGD protein:increased expression:pancreas,serum: PMID:26512025|REF_RGD_ID:12904888 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:632283 D RGD:9068941 20200609 RGD PMID:19352052|REF_RGD_ID:9850083 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:730950 D RGD:9068941 20210521 RGD DNA:SNP:5'utr: (rs696217) (human) PMID:21472143|REF_RGD_ID:126925218 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:6000 congestive heart failure ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20572026 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:630 genetic disease ISO RGD:730950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:783 end stage renal disease ISO RGD:730950 D RGD:9068941 20200609 RGD PMID:18809976|REF_RGD_ID:7242553 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:8577 ulcerative colitis ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19617644 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:9000117 Esophageal Neoplasms ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:9000888 Pregnancy in Diabetics ISO RGD:730950 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:plasma PMID:19046237|REF_RGD_ID:2313747 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:9002231 Fetal Growth Retardation disease_progression ISO RGD:632283 D RGD:9068941 20200609 RGD PMID:20637157|REF_RGD_ID:12904883 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:9002661 Diabetes Complications ISO RGD:730950 D RGD:9068941 20200609 RGD protein: decreased expression: serum PMID:18025762|REF_RGD_ID:7242563 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:632283 D RGD:9068941 20200609 RGD PMID:19620309|REF_RGD_ID:12905041 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:632283 D RGD:9068941 20200609 RGD PMID:21642627|REF_RGD_ID:12904963 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:9002955 Nerve Degeneration ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19429016 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:9003139 Cardiac Fibrosis disease_progression ISO RGD:632283 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:plasma,myocardia: PMID:16626506|REF_RGD_ID:12907503 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:730950 D RGD:9068941 20200609 RGD PMID:16626506|REF_RGD_ID:12907503 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:9004009 Reperfusion Injury ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16581065 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:9004484 Sepsis ISO RGD:632283 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:aorta,heart, intestine, plasma: PMID:15155262|REF_RGD_ID:12905047 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:9004657 Weight Gain ISO RGD:730950 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:16493877|PMID:33301842 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17407494 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732655 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18657539|REF_RGD_ID:2313750 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:9005643 Experimental Diabetes Mellitus disease_progression ISO RGD:632283 D RGD:9068941 20200609 RGD PMID:23965296|REF_RGD_ID:12905048 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:9006646 Metabolic Syndrome ISO RGD:730950 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to PMID:11502844|PMID:12050239|PMID:12161552|PMID:16204371|PMID:25741868 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:9007102 Myocardial Ischemia disease_progression ISO RGD:632283 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:plasma,myocardia: PMID:16626506|REF_RGD_ID:12907503 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:730950 D RGD:9068941 20200609 RGD PMID:16626506|REF_RGD_ID:12907503 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:9007346 Cachexia ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17347304 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:9007346 Cachexia ISO RGD:730950 D RGD:9068941 20200609 RGD PMID:12576449|REF_RGD_ID:7242556 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:9007661 Dwarfism ISO RGD:730950 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:20861603|REF_RGD_ID:12904881 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:730950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:730950 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.L72M (human) PMID:18848536|REF_RGD_ID:2313749 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:9743 diabetic neuropathy ISO RGD:730950 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19733151|REF_RGD_ID:2313744 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:9970 obesity ISO RGD:730950 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, age at onset of PMID:11502844|PMID:12050239|PMID:12161552|PMID:16204371|PMID:25741868 12390112 GHRL ghrelin and obestatin prepropeptide gene DOID:9970 obesity susceptibility ISO RGD:730950 D RGD:7240710 20230505 OMIM 12390130 CD86 CD86 molecule gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:628714 D RGD:9068941 20200609 RGD PMID:10590132|REF_RGD_ID:6902938 12390130 CD86 CD86 molecule gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1604658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12390130 CD86 CD86 molecule gene DOID:10124 corneal disease ISO RGD:628714 D RGD:9068941 20200609 RGD protein:increased expression:corneal epithelium, Langerhans cell (rat) PMID:19907296|REF_RGD_ID:4892211 12390130 CD86 CD86 molecule gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1604658 D RGD:9068941 20200609 RGD DNA:hypermethylation (human) PMID:23154584|REF_RGD_ID:11354975 12390130 CD86 CD86 molecule gene DOID:11123 Henoch-Schoenlein purpura treatment ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:venous blood, B cell (human) PMID:27030970|REF_RGD_ID:11354986 12390130 CD86 CD86 molecule gene DOID:12053 cryptococcosis ISO RGD:734336 D RGD:9068941 20200609 RGD protein:increased expression:lung, dendritic cell (mouse) PMID:16790753|REF_RGD_ID:4892554 12390130 CD86 CD86 molecule gene DOID:12449 aplastic anemia ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:blood, dendritic cell (human) PMID:21234821|REF_RGD_ID:11354968 12390130 CD86 CD86 molecule gene DOID:12842 Guillain-Barre syndrome ISO RGD:734336 D RGD:9068941 20220825 MouseDO OMIM:139393 12390130 CD86 CD86 molecule gene DOID:2123 tularemia ISO RGD:734336 D RGD:9068941 20200609 RGD protein:increased expression:lung, dendritic cell (mouse) PMID:16272336|REF_RGD_ID:4892560 12390130 CD86 CD86 molecule gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1604658 D RGD:9068941 20200609 RGD DNA:snps, haplotypes:exons: G>A, G>C (rs1129055, rs17281995) (human) PMID:26531698|REF_RGD_ID:11354964 12390130 CD86 CD86 molecule gene DOID:2518 orchitis ISO RGD:628714 D RGD:9068941 20200609 RGD protein:increased expression:testis, macrophage (rat) PMID:18381617|REF_RGD_ID:4892229 12390130 CD86 CD86 molecule gene DOID:2773 contact dermatitis ISO RGD:1604658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12390130 CD86 CD86 molecule gene DOID:2799 bronchiolitis obliterans ISO RGD:628714 D RGD:9068941 20200609 RGD PMID:11266944|REF_RGD_ID:2307206 12390130 CD86 CD86 molecule gene DOID:2841 asthma ISO RGD:1604658 D RGD:9068941 20200609 RGD DNA:snp:exon:p.I179V rs2681417 (human) PMID:17513529|REF_RGD_ID:4892280 12390130 CD86 CD86 molecule gene DOID:2841 asthma ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:blood, B cell (human) PMID:9449507|REF_RGD_ID:4892555 12390130 CD86 CD86 molecule gene DOID:2841 asthma ISO RGD:628714 D RGD:9068941 20200609 RGD protein:increased expression:lung, dendritic cell (rat) PMID:20668438|REF_RGD_ID:4892199 12390130 CD86 CD86 molecule gene DOID:2841 asthma ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:9551945|REF_RGD_ID:4892202 12390130 CD86 CD86 molecule gene DOID:2841 asthma ISO RGD:734336 D RGD:9068941 20200609 RGD protein:increased expression:lung, alveolar macrophage (mouse) PMID:20941750|REF_RGD_ID:4892277 12390130 CD86 CD86 molecule gene DOID:2841 asthma treatment ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:25344652|REF_RGD_ID:11354965 12390130 CD86 CD86 molecule gene DOID:2917 cryoglobulinemia ISO RGD:1604658 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;protein:increased expression:peripheral blood, B cell (human) PMID:23840845|REF_RGD_ID:11354974 12390130 CD86 CD86 molecule gene DOID:2942 bronchiolitis ISO RGD:734336 D RGD:9068941 20200609 RGD protein:decreased expression:myeloid dendritic cell (mouse) PMID:20046053|REF_RGD_ID:4892291 12390130 CD86 CD86 molecule gene DOID:2957 pulmonary tuberculosis ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:decreased expression:sputum, macrophage (human) PMID:17713660|REF_RGD_ID:4892339 12390130 CD86 CD86 molecule gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:lung, myeloid dendritic cell (human) PMID:19729666|REF_RGD_ID:4892292 12390130 CD86 CD86 molecule gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1604658 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:g.1057G>A rs1129055 (human) PMID:20732370|REF_RGD_ID:4891504 12390130 CD86 CD86 molecule gene DOID:3525 middle cerebral artery infarction ISO RGD:628714 D RGD:9068941 20200609 RGD protein:increased expression:brain subventricular zone, microglial cell (rat) PMID:19053043|REF_RGD_ID:2313025 12390130 CD86 CD86 molecule gene DOID:3770 pulmonary fibrosis ISO RGD:734336 D RGD:9068941 20200609 RGD protein:increased expression:lung, dendritic cell (mouse) PMID:20395561|REF_RGD_ID:4892281 12390130 CD86 CD86 molecule gene DOID:399 tuberculosis ISO RGD:734336 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:18292558|REF_RGD_ID:4892329 12390130 CD86 CD86 molecule gene DOID:409 liver disease ISO RGD:1604658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12390130 CD86 CD86 molecule gene DOID:418 systemic scleroderma ISO RGD:1604658 D RGD:9068941 20200609 RGD DNA:snp:5' utr:g.-3479T>G (human) PMID:16790753|REF_RGD_ID:4892554 12390130 CD86 CD86 molecule gene DOID:630 genetic disease ISO RGD:1604658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12390130 CD86 CD86 molecule gene DOID:6432 pulmonary hypertension ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:decreased expression:blood, myeloid dendritic cell (human) PMID:19693657|REF_RGD_ID:4892293 12390130 CD86 CD86 molecule gene DOID:841 extrinsic allergic alveolitis ISO RGD:734336 D RGD:9068941 20200609 RGD associated with Paramyxoviridae Infections; protein:increased expression:lung (mouse) PMID:19282343|REF_RGD_ID:4892294 12390130 CD86 CD86 molecule gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood mononuclear cell (human) PMID:19379594|REF_RGD_ID:11354966 12390130 CD86 CD86 molecule gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1604658 D RGD:9068941 20200609 RGD PMID:20581660|REF_RGD_ID:11520785 12390130 CD86 CD86 molecule gene DOID:9000469 Viral Myocarditis treatment ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:10398149|REF_RGD_ID:13702899 12390130 CD86 CD86 molecule gene DOID:9000930 Dental Pulp Exposure ISO RGD:628714 D RGD:9068941 20200609 RGD mRNA:increased expression:periodontal ligament (rat) PMID:20113783|REF_RGD_ID:4892210 12390130 CD86 CD86 molecule gene DOID:9000930 Dental Pulp Exposure ISO RGD:628714 D RGD:9068941 20200609 RGD mRNA:increased expression:thalamus (rat) PMID:20171363|REF_RGD_ID:4892246 12390130 CD86 CD86 molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:628714 D RGD:9068941 20200609 RGD mRNA:decreased expression:mediastinal lymph node (rat) PMID:18360875|REF_RGD_ID:4892237 12390130 CD86 CD86 molecule gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:734336 D RGD:9068941 20200609 RGD protein:decreased expression:spleen, plasmacytoid dendritic cell (mouse) PMID:20949109|REF_RGD_ID:4892562 12390130 CD86 CD86 molecule gene DOID:9001488 Human Influenza ISO RGD:734336 D RGD:9068941 20200609 RGD protein:increased expression:mediastinal lymph node, B cell (mouse) PMID:19933871|REF_RGD_ID:4892570 12390130 CD86 CD86 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12390130 CD86 CD86 molecule gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood mononuclear cell (human) PMID:25179679|REF_RGD_ID:11354969 12390130 CD86 CD86 molecule gene DOID:9002283 Experimental Allergic Asthma treatment ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:25344652|REF_RGD_ID:11354965 12390130 CD86 CD86 molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:628714 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, blood vessel (rat) PMID:20451260|REF_RGD_ID:4892207 12390130 CD86 CD86 molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis resistance ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:10477557|REF_RGD_ID:4892227 12390130 CD86 CD86 molecule gene DOID:9002869 Schistosomiasis Mansoni ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, eosinophil (human) PMID:17308795|REF_RGD_ID:11354987 12390130 CD86 CD86 molecule gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa, dendritic cell (human) PMID:17088138|REF_RGD_ID:4892343 12390130 CD86 CD86 molecule gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:8993020|REF_RGD_ID:2313930 12390130 CD86 CD86 molecule gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1604658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 12390130 CD86 CD86 molecule gene DOID:9006844 Streptococcal Infections ISO RGD:734336 D RGD:9068941 20200609 RGD associated with Encephalomyelitis, Experimental Autoimmune; protein:increased expression:spleen, dendritic cell (mouse) PMID:16861672|REF_RGD_ID:4892553 12390130 CD86 CD86 molecule gene DOID:9007730 Burns ISO RGD:628714 D RGD:9068941 20200609 RGD protein:increased expression:spleen, dendritic cell (rat) PMID:20233162|REF_RGD_ID:4892209 12390130 CD86 CD86 molecule gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12390130 CD86 CD86 molecule gene DOID:9119 acute myeloid leukemia ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:19197726|REF_RGD_ID:4892295 12390130 CD86 CD86 molecule gene DOID:9119 acute myeloid leukemia severity ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:mononuclear cell of bone marrow (human) PMID:16115907|REF_RGD_ID:11354960 12390130 CD86 CD86 molecule gene DOID:9270 alkaptonuria ISO RGD:1604658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12390130 CD86 CD86 molecule gene DOID:9538 multiple myeloma ISO RGD:1604658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16611307 12390130 CD86 CD86 molecule gene DOID:9538 multiple myeloma severity ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow, plasma cell (human) PMID:22705596|REF_RGD_ID:11354971 12390130 CD86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604658 D RGD:9068941 20200609 RGD human gene in mouse model PMID:17947667|REF_RGD_ID:4892258 12390130 CD86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:decreased expression:dendritic cell PMID:16232222|REF_RGD_ID:2313911 12390130 CD86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:dendritic cell PMID:12742378|REF_RGD_ID:2313920 12390130 CD86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:15356107|REF_RGD_ID:2313917 12390130 CD86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:734336 D RGD:9068941 20200609 RGD protein:decreased expression:macrophage,dendritic cell,T cell PMID:10679081|REF_RGD_ID:2313927 12390130 CD86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:734336 D RGD:9068941 20200609 RGD protein:decreased expression:dendritic cells PMID:18316361|REF_RGD_ID:2313906 12390130 CD86 CD86 molecule gene DOID:9952 acute lymphoblastic leukemia severity ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, bone marrow, mononuclear cell (human) PMID:24283754|REF_RGD_ID:11354967 12390150 SNU13 small nuclear ribonucleoprotein 13 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1347136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12390150 SNU13 small nuclear ribonucleoprotein 13 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1347136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 12390160 ACTG2 actin gamma 2, smooth muscle gene DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ISO RGD:737318 D RGD:7240710 20180130 OMIM 12390160 ACTG2 actin gamma 2, smooth muscle gene DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ISO RGD:737318 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome | ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal PMID:23806086|PMID:24088041|PMID:24337657|PMID:24676022|PMID:25326635|PMID:25741868|PMID:25998219|PMID:26072522|PMID:26647307|PMID:26813947|PMID:27007401|PMID:28422808|PMID:29781137|PMID:30019982|PMID:31769566|PMID:33294969 12390160 ACTG2 actin gamma 2, smooth muscle gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:737318 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12390160 ACTG2 actin gamma 2, smooth muscle gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:737318 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction | ClinVar Annotator: match by term: Intestinal pseudo-obstruction | ClinVar Annotator: match by term: Visceral myopathy PMID:11474115|PMID:21681106|PMID:22960657|PMID:23806086|PMID:24088041|PMID:24337657|PMID:24676022|PMID:24777424|PMID:25326635|PMID:25741868|PMID:25998219|PMID:26072522|PMID:26647307|PMID:26813947|PMID:26938784|PMID:27007401|PMID:27481187|PMID:28422808|PMID:29387497|PMID:29608093|PMID:29781137|PMID:31769566|PMID:32814715|PMID:33294969 12390160 ACTG2 actin gamma 2, smooth muscle gene DOID:0080682 autosomal dominant familial visceral neuropathy ISO RGD:737318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral neuropathy, familial, autosomal dominant PMID:23806086|PMID:24088041|PMID:24337657|PMID:24676022|PMID:25326635|PMID:25741868|PMID:25998219|PMID:26072522|PMID:26647307|PMID:26813947|PMID:27007401|PMID:28422808|PMID:29781137|PMID:31769566|PMID:33294969 12390160 ACTG2 actin gamma 2, smooth muscle gene DOID:2018 hyperinsulinism ISO RGD:737318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperinsulinism PMID:23806086|PMID:24088041|PMID:24337657|PMID:24676022|PMID:25741868|PMID:25998219|PMID:26072522|PMID:26647307|PMID:26813947|PMID:27007401|PMID:28422808|PMID:29781137|PMID:31769566|PMID:33294969 12390160 ACTG2 actin gamma 2, smooth muscle gene DOID:543 dystonia ISO RGD:737318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12390160 ACTG2 actin gamma 2, smooth muscle gene DOID:630 genetic disease ISO RGD:737318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11474115|PMID:23806086|PMID:24088041|PMID:24337657|PMID:24676022|PMID:25741868|PMID:25998219|PMID:26072522|PMID:26647307|PMID:26813947|PMID:27007401|PMID:27481187|PMID:28422808|PMID:29781137|PMID:31769566|PMID:33294969 12390160 ACTG2 actin gamma 2, smooth muscle gene DOID:8437 intestinal obstruction ISO RGD:737318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intestinal obstruction PMID:22960657|PMID:24777424|PMID:25741868|PMID:29781137 12390160 ACTG2 actin gamma 2, smooth muscle gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:737318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12390160 ACTG2 actin gamma 2, smooth muscle gene DOID:9000803 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 ISO RGD:737318 D RGD:7240710 20210728 OMIM 12390160 ACTG2 actin gamma 2, smooth muscle gene DOID:9000803 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 ISO RGD:737318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 PMID:11474115|PMID:23806086|PMID:24088041|PMID:24337657|PMID:24676022|PMID:25326635|PMID:25741868|PMID:25998219|PMID:26072522|PMID:26647307|PMID:26813947|PMID:27007401|PMID:27481187|PMID:28422808|PMID:29608093|PMID:29781137|PMID:31769566|PMID:33294969 12390160 ACTG2 actin gamma 2, smooth muscle gene DOID:9000807 Megaduodenum ISO RGD:737318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacystis PMID:23806086|PMID:24088041|PMID:24337657|PMID:24676022|PMID:25741868|PMID:25998219|PMID:26072522|PMID:26647307|PMID:26813947|PMID:27007401|PMID:27481187|PMID:28422808|PMID:29781137|PMID:31769566|PMID:33294969 12390160 ACTG2 actin gamma 2, smooth muscle gene DOID:9002025 Familial Visceral Myopathy ISO RGD:737318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22960657 12390160 ACTG2 actin gamma 2, smooth muscle gene DOID:9002928 Colonic Neoplasms ISO RGD:737318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12390173 MAP3K4 mitogen-activated protein kinase kinase kinase 4 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1322520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 12390173 MAP3K4 mitogen-activated protein kinase kinase kinase 4 gene DOID:2154 nephroblastoma ISO RGD:1322520 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 12390173 MAP3K4 mitogen-activated protein kinase kinase kinase 4 gene DOID:630 genetic disease ISO RGD:1322520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12390173 MAP3K4 mitogen-activated protein kinase kinase kinase 4 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1322520 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 12390207 HIGD1A HIG1 hypoxia inducible domain family member 1A gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1603666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 12390207 HIGD1A HIG1 hypoxia inducible domain family member 1A gene DOID:630 genetic disease ISO RGD:1603666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12390222 FAIM2 Fas apoptotic inhibitory molecule 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:628744 D RGD:9068941 20200609 RGD PMID:29208459|REF_RGD_ID:13792601 12390222 FAIM2 Fas apoptotic inhibitory molecule 2 gene DOID:630 genetic disease ISO RGD:1348169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12390238 POLR2C RNA polymerase II subunit C gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315832 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12390238 POLR2C RNA polymerase II subunit C gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1315832 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 12390238 POLR2C RNA polymerase II subunit C gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315832 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12390238 POLR2C RNA polymerase II subunit C gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1315832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12390238 POLR2C RNA polymerase II subunit C gene DOID:5223 infertility ISO RGD:1315832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infertility 12390238 POLR2C RNA polymerase II subunit C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 12390238 POLR2C RNA polymerase II subunit C gene DOID:630 genetic disease ISO RGD:1315832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12390251 ATF2 activating transcription factor 2 gene DOID:0050702 neonatal period electroclinical syndrome IAGP D RGD:12801476 20220629 OMIA Neonatal encephalopathy with seizures PMID:18074159|PMID:33244473 12390251 ATF2 activating transcription factor 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:732287 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12390251 ATF2 activating transcription factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:732287 D RGD:9068941 20200609 RGD PMID:15878807|PMID:9138733|REF_RGD_ID:10047399|REF_RGD_ID:10047400 12390251 ATF2 activating transcription factor 2 gene DOID:10763 hypertension ISO RGD:621862 D RGD:9068941 20200609 RGD PMID:11358932|REF_RGD_ID:10047414 12390251 ATF2 activating transcription factor 2 gene DOID:11049 meconium aspiration syndrome ISO RGD:736761 D RGD:9068941 20220825 MouseDO 12390251 ATF2 activating transcription factor 2 gene DOID:11870 Pick's disease ISO RGD:732287 D RGD:9068941 20200609 RGD PMID:16496165|REF_RGD_ID:10047401 12390251 ATF2 activating transcription factor 2 gene DOID:12858 Huntington's disease ISO RGD:732287 D RGD:9068941 20200609 RGD PMID:15878807|REF_RGD_ID:10047400 12390251 ATF2 activating transcription factor 2 gene DOID:14566 disease of cellular proliferation ISO RGD:732287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23591579 12390251 ATF2 activating transcription factor 2 gene DOID:1686 glaucoma ISO RGD:621862 D RGD:9068941 20200609 RGD PMID:17586494|REF_RGD_ID:10047416 12390251 ATF2 activating transcription factor 2 gene DOID:224 transient cerebral ischemia ISO RGD:621862 D RGD:9068941 20200609 RGD PMID:10077326|PMID:9813301|REF_RGD_ID:10047405|REF_RGD_ID:10047413 12390251 ATF2 activating transcription factor 2 gene DOID:2256 osteochondrodysplasia ISO RGD:736761 D RGD:9068941 20220825 MouseDO OMIM:215050 12390251 ATF2 activating transcription factor 2 gene DOID:5419 schizophrenia ISO RGD:732287 D RGD:9068941 20200609 RGD protein:increased expression:cerebellar vermis PMID:10891039|REF_RGD_ID:10047412 12390251 ATF2 activating transcription factor 2 gene DOID:630 genetic disease ISO RGD:732287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12390251 ATF2 activating transcription factor 2 gene DOID:9000918 Disease Progression ISO RGD:732287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23591579 12390251 ATF2 activating transcription factor 2 gene DOID:9004001 Facial Nerve Injuries ISO RGD:621862 D RGD:9068941 20200609 RGD PMID:9813301|REF_RGD_ID:10047413 12390251 ATF2 activating transcription factor 2 gene DOID:9005930 Endotoxemia ISO RGD:621862 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:small intestine mucosa PMID:21641970|REF_RGD_ID:5135029 12390251 ATF2 activating transcription factor 2 gene DOID:9005930 Endotoxemia treatment ISO RGD:621862 D RGD:9068941 20200609 RGD PMID:24312512|REF_RGD_ID:10047418 12390251 ATF2 activating transcription factor 2 gene DOID:9008091 Optic Nerve Injuries ISO RGD:621862 D RGD:9068941 20200609 RGD PMID:10366744|REF_RGD_ID:10047417 12390279 RBPJ recombination signal binding protein for immunoglobulin kappa J region gene DOID:0060227 Adams-Oliver syndrome ISO RGD:1321529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12390279 RBPJ recombination signal binding protein for immunoglobulin kappa J region gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1321529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:29924900 12390279 RBPJ recombination signal binding protein for immunoglobulin kappa J region gene DOID:12930 dilated cardiomyopathy ISO RGD:1321529 D RGD:9068941 20200609 RGD PMID:10600520|REF_RGD_ID:1581297 12390279 RBPJ recombination signal binding protein for immunoglobulin kappa J region gene DOID:2377 multiple sclerosis ISO RGD:1321529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25853421 12390279 RBPJ recombination signal binding protein for immunoglobulin kappa J region gene DOID:289 endometriosis ISO RGD:1321529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12390279 RBPJ recombination signal binding protein for immunoglobulin kappa J region gene DOID:5419 schizophrenia ISO RGD:1321529 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12390279 RBPJ recombination signal binding protein for immunoglobulin kappa J region gene DOID:62 aortic valve disease ISO RGD:1321530 D RGD:9068941 20220825 MouseDO 12390279 RBPJ recombination signal binding protein for immunoglobulin kappa J region gene DOID:630 genetic disease ISO RGD:1321529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12390279 RBPJ recombination signal binding protein for immunoglobulin kappa J region gene DOID:7148 rheumatoid arthritis ISO RGD:1321529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 12390279 RBPJ recombination signal binding protein for immunoglobulin kappa J region gene DOID:9006275 Adams-Oliver Syndrome 3 ISO RGD:1321529 D RGD:7240710 20180130 OMIM 12390279 RBPJ recombination signal binding protein for immunoglobulin kappa J region gene DOID:9006275 Adams-Oliver Syndrome 3 ISO RGD:1321529 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 3 PMID:22883147|PMID:25741868|PMID:28492532|PMID:29924900 12390279 RBPJ recombination signal binding protein for immunoglobulin kappa J region gene DOID:9352 type 2 diabetes mellitus ISO RGD:1321529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:29924900 12390306 EMC9 ER membrane protein complex subunit 9 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1317698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12390306 EMC9 ER membrane protein complex subunit 9 gene DOID:630 genetic disease ISO RGD:1317698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12390306 EMC9 ER membrane protein complex subunit 9 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1317698 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12390306 EMC9 ER membrane protein complex subunit 9 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1317698 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12390315 TCAF1 TRPM8 channel associated factor 1 gene DOID:630 genetic disease ISO RGD:1602499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12390334 PPM1N protein phosphatase, Mg2+/Mn2+ dependent 1N (putative) gene DOID:630 genetic disease ISO RGD:1604993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12390342 EBI3 Epstein-Barr virus induced 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1353395 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12390342 EBI3 Epstein-Barr virus induced 3 gene DOID:10591 pre-eclampsia ameliorates ISO RGD:1589467 D RGD:9068941 20230323 RGD PMID:31203154|REF_RGD_ID:213230155 12390342 EBI3 Epstein-Barr virus induced 3 gene DOID:13938 amenorrhea ISO RGD:1353395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12390342 EBI3 Epstein-Barr virus induced 3 gene DOID:2841 asthma ISO RGD:1615927 D RGD:9068941 20200609 RGD PMID:21255010|REF_RGD_ID:5128488 12390342 EBI3 Epstein-Barr virus induced 3 gene DOID:630 genetic disease ISO RGD:1353395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12390342 EBI3 Epstein-Barr virus induced 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1353395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12390353 ABCA7 ATP binding cassette subfamily A member 7 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1601775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 12390353 ABCA7 ATP binding cassette subfamily A member 7 gene DOID:0111364 Alzheimer's disease 9 ISO RGD:1601775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALZHEIMER DISEASE 9, LATE-ONSET | ClinVar Annotator: match by term: Alzheimer disease 9 PMID:25741868|PMID:25807283|PMID:26141617|PMID:27066581|PMID:28492532|PMID:28789839 12390353 ABCA7 ATP binding cassette subfamily A member 7 gene DOID:0111364 Alzheimer's disease 9 susceptibility ISO RGD:1601775 D RGD:7240710 20190502 OMIM 12390353 ABCA7 ATP binding cassette subfamily A member 7 gene DOID:10652 Alzheimer's disease ISO RGD:1601775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early onset PMID:25741868|PMID:25807283|PMID:26141617|PMID:27066581|PMID:28492532 12390353 ABCA7 ATP binding cassette subfamily A member 7 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1601775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12390353 ABCA7 ATP binding cassette subfamily A member 7 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1601775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 12390353 ABCA7 ATP binding cassette subfamily A member 7 gene DOID:5339 cyclic hematopoiesis ISO RGD:1601775 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12390353 ABCA7 ATP binding cassette subfamily A member 7 gene DOID:630 genetic disease ISO RGD:1601775 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12390353 ABCA7 ATP binding cassette subfamily A member 7 gene DOID:9000918 Disease Progression ISO RGD:1601775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12390353 ABCA7 ATP binding cassette subfamily A member 7 gene DOID:9006836 Contracture ISO RGD:1601775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 12390353 ABCA7 ATP binding cassette subfamily A member 7 gene DOID:9255 frontotemporal dementia ISO RGD:1601775 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868|PMID:26101835|PMID:28097223|PMID:28400126|PMID:28789839|PMID:30924900|PMID:31836585 12390404 GGACT gamma-glutamylamine cyclotransferase gene DOID:0110878 holoprosencephaly 5 ISO RGD:2299985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 12390404 GGACT gamma-glutamylamine cyclotransferase gene DOID:14701 propionic acidemia ISO RGD:2299985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:15464417|PMID:19157943|PMID:22033733|PMID:28492532 12390404 GGACT gamma-glutamylamine cyclotransferase gene DOID:4621 holoprosencephaly ISO RGD:2299985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 12390404 GGACT gamma-glutamylamine cyclotransferase gene DOID:630 genetic disease ISO RGD:2299985 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12390404 GGACT gamma-glutamylamine cyclotransferase gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:2299985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12390427 COL6A5 collagen type VI alpha 5 chain gene DOID:0111947 immunodeficiency 21 ISO RGD:1601707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12390427 COL6A5 collagen type VI alpha 5 chain gene DOID:630 genetic disease ISO RGD:1601707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12390427 COL6A5 collagen type VI alpha 5 chain gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1601707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868|PMID:28492532 12390427 COL6A5 collagen type VI alpha 5 chain gene DOID:9270 alkaptonuria ISO RGD:1601707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12390482 LOC486151 thiamine transporter 2 gene DOID:0050659 biotin-responsive basal ganglia disease ISO RGD:1322863 D RGD:7240710 20180130 OMIM 12390482 LOC486151 thiamine transporter 2 gene DOID:0050659 biotin-responsive basal ganglia disease ISO RGD:1322863 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Biotin-responsive basal ganglia disease | ClinVar Annotator: match by term: thiamine-responsive encephalopathy PMID:15871139|PMID:16199547|PMID:16790503|PMID:17576681|PMID:19387023|PMID:20065143|PMID:22777947|PMID:23423671|PMID:23482991|PMID:23589815|PMID:23742248|PMID:24166474|PMID:24372704|PMID:24667528|PMID:24957181|PMID:25741868|PMID:26077850|PMID:26443248|PMID:26467025|PMID:26657515|PMID:26863430|PMID:26938784|PMID:27290639|PMID:27749535|PMID:27841215|PMID:27896110|PMID:27905264|PMID:28492532|PMID:28518168|PMID:28832562|PMID:28856750|PMID:29101630|PMID:29236641|PMID:29453417|PMID:32034746|PMID:32461654|PMID:32679198|PMID:9536098 12390482 LOC486151 thiamine transporter 2 gene DOID:1059 intellectual disability ISO RGD:1322863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12390482 LOC486151 thiamine transporter 2 gene DOID:1826 epilepsy ISO RGD:1322863 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12390482 LOC486151 thiamine transporter 2 gene DOID:607 paraplegia ISO RGD:1322863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868 12390482 LOC486151 thiamine transporter 2 gene DOID:630 genetic disease ISO RGD:1322863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15871139|PMID:16790503|PMID:23423671|PMID:23482991|PMID:23742248|PMID:24166474|PMID:25741868|PMID:27749535|PMID:27905264|PMID:28402605|PMID:28492532|PMID:28518168|PMID:29236641|PMID:32461654 12390482 LOC486151 thiamine transporter 2 gene DOID:679 basal ganglia disease ISO RGD:1322863 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19387023 12390482 LOC486151 thiamine transporter 2 gene DOID:784 chronic kidney disease ISO RGD:1311413 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver, heart, jejunum (rat) PMID:21149507|REF_RGD_ID:7327184 12390482 SLC19A3 thiamine transporter 2 gene DOID:3652 Leigh disease IAGP D RGD:12801476 20211006 OMIA Necrotising encephalopathy, subacute, of Leigh PMID:8844603|PMID:10664957|PMID:10912920|PMID:19466433|PMID:23469184|PMID:25117056|PMID:33081289|PMID:34544496 12390517 UPB1 beta-ureidopropionase 1 gene DOID:0014667 disease of metabolism ISO RGD:734439 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18853477 12390517 UPB1 beta-ureidopropionase 1 gene DOID:0050562 West syndrome ISO RGD:734439 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18853477 12390517 UPB1 beta-ureidopropionase 1 gene DOID:10608 celiac disease ISO RGD:734439 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 12390517 UPB1 beta-ureidopropionase 1 gene DOID:12849 autistic disorder ISO RGD:734439 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18853477 12390517 UPB1 beta-ureidopropionase 1 gene DOID:1826 epilepsy ISO RGD:734439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12390517 UPB1 beta-ureidopropionase 1 gene DOID:5419 schizophrenia ISO RGD:734439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12390517 UPB1 beta-ureidopropionase 1 gene DOID:630 genetic disease ISO RGD:734439 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11783491|PMID:15385443|PMID:16199547|PMID:17065070|PMID:22525402|PMID:24526388|PMID:25741868|PMID:28492532|PMID:30608453|PMID:35151535 12390517 UPB1 beta-ureidopropionase 1 gene DOID:9000223 Beta-Ureidopropionase Deficiency ISO RGD:734439 D RGD:7240710 20180130 OMIM 12390517 UPB1 beta-ureidopropionase 1 gene DOID:9000223 Beta-Ureidopropionase Deficiency ISO RGD:734439 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Beta-ureidopropionase deficiency PMID:11783491|PMID:15385443|PMID:16199547|PMID:17065070|PMID:17964839|PMID:22525402|PMID:23238479|PMID:24033266|PMID:24123366|PMID:24526388|PMID:25236466|PMID:25445412|PMID:25638458|PMID:25741868|PMID:27553092|PMID:28492532|PMID:30109123|PMID:30608453|PMID:31180159|PMID:35151535 12390531 ATOH7 atonal bHLH transcription factor 7 gene DOID:630 genetic disease ISO RGD:1312698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12390531 ATOH7 atonal bHLH transcription factor 7 gene DOID:9001923 Foveal Hypoplasia ISO RGD:1312698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Foveal hypoplasia PMID:28492532|PMID:31696227 12390531 ATOH7 atonal bHLH transcription factor 7 gene DOID:9005204 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive ISO RGD:1312698 D RGD:7240710 20180130 OMIM 12390531 ATOH7 atonal bHLH transcription factor 7 gene DOID:9005204 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive ISO RGD:1312698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive PMID:11527934|PMID:21441919|PMID:21474777|PMID:22068589|PMID:22645276|PMID:28492532|PMID:9677055 12390541 ZNF652 zinc finger protein 652 gene DOID:630 genetic disease ISO RGD:1350708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12390551 DLG3 discs large MAGUK scaffold protein 3 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:68629 D RGD:9068941 20220825 MouseDO OMIM:300046 | OMIM:300047 | OMIM:300062 | OMIM:300114 | OMIM:300115 | OMIM:300143 | OMIM:300210 | OMIM:300271 | OMIM:300324 | OMIM:300355 | OMIM:300372 | OMIM:300387 | OMIM:300428 | OMIM:300433 | OMIM:300436 | OMIM:300454 | OMIM:300498 | OMIM:300504 | OMIM:300505 | OMIM:300518 | OMIM:300558 | OMIM:300577 | OMIM:300659 | OMIM:300716 | OMIM:300802 | OMIM:300803 | OMIM:300844 | OMIM:300848 | OMIM:300849 | OMIM:300850 | OMIM:300851 | OMIM:300852 | OMIM:300912 | OMIM:300919 | OMIM:300923 | OMIM:309530 | OMIM:309549 12390551 DLG3 discs large MAGUK scaffold protein 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:68628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12390551 DLG3 discs large MAGUK scaffold protein 3 gene DOID:0112041 non-syndromic X-linked intellectual disability 90 ISO RGD:68628 D RGD:7240710 20180130 OMIM 12390551 DLG3 discs large MAGUK scaffold protein 3 gene DOID:0112041 non-syndromic X-linked intellectual disability 90 ISO RGD:68628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DLG3-Related Disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 90 PMID:15185169|PMID:23020937|PMID:24721225|PMID:25741868|PMID:28554332 12390551 DLG3 discs large MAGUK scaffold protein 3 gene DOID:1059 intellectual disability ISO RGD:68628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:31690835 12390551 DLG3 discs large MAGUK scaffold protein 3 gene DOID:12849 autistic disorder ISO RGD:68628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12390551 DLG3 discs large MAGUK scaffold protein 3 gene DOID:1826 epilepsy ISO RGD:68628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure 12390551 DLG3 discs large MAGUK scaffold protein 3 gene DOID:630 genetic disease ISO RGD:68628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532|PMID:28554332 12390551 DLG3 discs large MAGUK scaffold protein 3 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:68628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15185169 12390551 DLG3 discs large MAGUK scaffold protein 3 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:68628 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:15185169|REF_RGD_ID:1300392 12390582 FAM131A family with sequence similarity 131 member A gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1606725 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12390582 FAM131A family with sequence similarity 131 member A gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1606725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12390582 FAM131A family with sequence similarity 131 member A gene DOID:0111546 Currarino syndrome ISO RGD:1606725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12390582 FAM131A family with sequence similarity 131 member A gene DOID:630 genetic disease ISO RGD:1606725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12390598 CSF3 colony stimulating factor 3 gene DOID:0001816 angiosarcoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9774950 12390598 CSF3 colony stimulating factor 3 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11321886 12390598 CSF3 colony stimulating factor 3 gene DOID:0050852 limb ischemia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:16224058|PMID:23294128|REF_RGD_ID:10400895|REF_RGD_ID:11039414 12390598 CSF3 colony stimulating factor 3 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11911406 12390598 CSF3 colony stimulating factor 3 gene DOID:0080000 muscular disease ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7543699 12390598 CSF3 colony stimulating factor 3 gene DOID:0080177 hepatic veno-occlusive disease ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8602625 12390598 CSF3 colony stimulating factor 3 gene DOID:0080178 mucositis ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17047649|PMID:7543699 12390598 CSF3 colony stimulating factor 3 gene DOID:0080600 COVID-19 ISO RGD:1350955 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:31986264 12390598 CSF3 colony stimulating factor 3 gene DOID:0080600 COVID-19 severity ISO RGD:1350955 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|PMID:32360286|REF_RGD_ID:30309209|REF_RGD_ID:30309212 12390598 CSF3 colony stimulating factor 3 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1350955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 12390598 CSF3 colony stimulating factor 3 gene DOID:10247 pleurisy ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:8841835|REF_RGD_ID:11039424 12390598 CSF3 colony stimulating factor 3 gene DOID:11054 urinary bladder cancer ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17515069|PMID:7525883 12390598 CSF3 colony stimulating factor 3 gene DOID:114 heart disease ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19429242 12390598 CSF3 colony stimulating factor 3 gene DOID:11450 allergic cutaneous vasculitis treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Severe Congenital Neutropenia; PMID:20100783|REF_RGD_ID:11039037 12390598 CSF3 colony stimulating factor 3 gene DOID:12010 anterior ischemic optic neuropathy treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:24316388|REF_RGD_ID:11039419 12390598 CSF3 colony stimulating factor 3 gene DOID:1227 neutropenia ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11712802|PMID:12085204|PMID:12884814|PMID:12926135|PMID:15585077|PMID:16761898|PMID:27737899|PMID:7524159|PMID:7529132|PMID:7543699|PMID:7688884|PMID:9740541|PMID:9774950 12390598 CSF3 colony stimulating factor 3 gene DOID:1227 neutropenia ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:10654961|REF_RGD_ID:11039039 12390598 CSF3 colony stimulating factor 3 gene DOID:12449 aplastic anemia ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10544668|PMID:10629575|PMID:15863969|PMID:1642096|PMID:16553037|PMID:9777751 12390598 CSF3 colony stimulating factor 3 gene DOID:12450 pancytopenia ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17505274|PMID:9051142 12390598 CSF3 colony stimulating factor 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17334414 12390598 CSF3 colony stimulating factor 3 gene DOID:12987 agranulocytosis ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15999287 12390598 CSF3 colony stimulating factor 3 gene DOID:13250 diarrhea ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7543699 12390598 CSF3 colony stimulating factor 3 gene DOID:1561 cognitive disorder treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Status Epilepticus; PMID:20410588|REF_RGD_ID:11039464 12390598 CSF3 colony stimulating factor 3 gene DOID:1588 thrombocytopenia ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12085204|PMID:7543699 12390598 CSF3 colony stimulating factor 3 gene DOID:1596 depressive disorder ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9018096 12390598 CSF3 colony stimulating factor 3 gene DOID:1679 cystitis ISO RGD:2426 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:18848347|REF_RGD_ID:2317284 12390598 CSF3 colony stimulating factor 3 gene DOID:1909 melanoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16120623|PMID:16260693 12390598 CSF3 colony stimulating factor 3 gene DOID:1967 leiomyosarcoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9774950 12390598 CSF3 colony stimulating factor 3 gene DOID:224 transient cerebral ischemia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:12624302|REF_RGD_ID:10450512 12390598 CSF3 colony stimulating factor 3 gene DOID:2316 brain ischemia ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18832793|REF_RGD_ID:2311241 12390598 CSF3 colony stimulating factor 3 gene DOID:2355 anemia ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12085204|PMID:16076697|PMID:17047649 12390598 CSF3 colony stimulating factor 3 gene DOID:2671 transitional cell carcinoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7525883|PMID:7543010 12390598 CSF3 colony stimulating factor 3 gene DOID:2741 bilirubin metabolic disorder ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8602625 12390598 CSF3 colony stimulating factor 3 gene DOID:2841 asthma ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:21396376|REF_RGD_ID:5133731 12390598 CSF3 colony stimulating factor 3 gene DOID:2841 asthma ISO RGD:731416 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20405019|REF_RGD_ID:5131473 12390598 CSF3 colony stimulating factor 3 gene DOID:305 carcinoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9018096 12390598 CSF3 colony stimulating factor 3 gene DOID:3525 middle cerebral artery infarction ISO RGD:2426 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain: PMID:15530654|REF_RGD_ID:11039425 12390598 CSF3 colony stimulating factor 3 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:19298757|REF_RGD_ID:11039420 12390598 CSF3 colony stimulating factor 3 gene DOID:3770 pulmonary fibrosis ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17894541 12390598 CSF3 colony stimulating factor 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7692001 12390598 CSF3 colony stimulating factor 3 gene DOID:409 liver disease ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19429242 12390598 CSF3 colony stimulating factor 3 gene DOID:5409 lung small cell carcinoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9093707 12390598 CSF3 colony stimulating factor 3 gene DOID:557 kidney disease ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19429242 12390598 CSF3 colony stimulating factor 3 gene DOID:574 peripheral nervous system disease ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9740541 12390598 CSF3 colony stimulating factor 3 gene DOID:5844 myocardial infarction treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:15639484|REF_RGD_ID:11039417 12390598 CSF3 colony stimulating factor 3 gene DOID:6000 congestive heart failure ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15585077 12390598 CSF3 colony stimulating factor 3 gene DOID:615 leukopenia ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16076697|PMID:16120623|PMID:16937080|PMID:7543699 12390598 CSF3 colony stimulating factor 3 gene DOID:630 genetic disease ISO RGD:1350955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12390598 CSF3 colony stimulating factor 3 gene DOID:6432 pulmonary hypertension ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:12524378|REF_RGD_ID:11039539 12390598 CSF3 colony stimulating factor 3 gene DOID:6432 pulmonary hypertension treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:17186992|REF_RGD_ID:11039432 12390598 CSF3 colony stimulating factor 3 gene DOID:707 B-cell lymphoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11042651 12390598 CSF3 colony stimulating factor 3 gene DOID:77 gastrointestinal system disease ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17047649 12390598 CSF3 colony stimulating factor 3 gene DOID:8472 localized scleroderma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15863969 12390598 CSF3 colony stimulating factor 3 gene DOID:850 lung disease ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Hyperoxia PMID:21155037|REF_RGD_ID:5133732 12390598 CSF3 colony stimulating factor 3 gene DOID:850 lung disease ISO RGD:2426 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic;protein:increased expression:bronchus epithelium PMID:9374735|REF_RGD_ID:5133737 12390598 CSF3 colony stimulating factor 3 gene DOID:8567 Hodgkin's lymphoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17562247 12390598 CSF3 colony stimulating factor 3 gene DOID:863 nervous system disease ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17047649 12390598 CSF3 colony stimulating factor 3 gene DOID:8692 myeloid leukemia disease_progression ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:7510191|REF_RGD_ID:11039040 12390598 CSF3 colony stimulating factor 3 gene DOID:874 bacterial pneumonia disease_progression ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:21373266|REF_RGD_ID:5133733 12390598 CSF3 colony stimulating factor 3 gene DOID:874 bacterial pneumonia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Peritonitis; PMID:12352049|REF_RGD_ID:11039437 12390598 CSF3 colony stimulating factor 3 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:21953623|REF_RGD_ID:10450511 12390598 CSF3 colony stimulating factor 3 gene DOID:9000040 Hypertrophy ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18785976 12390598 CSF3 colony stimulating factor 3 gene DOID:9000046 Poisoning ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15727166 12390598 CSF3 colony stimulating factor 3 gene DOID:9000053 Headache ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10864982 12390598 CSF3 colony stimulating factor 3 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:16689657|REF_RGD_ID:11039462 12390598 CSF3 colony stimulating factor 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7692001 12390598 CSF3 colony stimulating factor 3 gene DOID:9000242 Lymphoma, AIDS-Related ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12176798 12390598 CSF3 colony stimulating factor 3 gene DOID:9000310 Lung Injury ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:14585735|REF_RGD_ID:11039441 12390598 CSF3 colony stimulating factor 3 gene DOID:9000641 Pain ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10864982|PMID:7541186|PMID:8622042 12390598 CSF3 colony stimulating factor 3 gene DOID:9000784 Fibrosis ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18785976|PMID:20005281 12390598 CSF3 colony stimulating factor 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7543699|PMID:9018096 12390598 CSF3 colony stimulating factor 3 gene DOID:9000972 Fever ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9740541 12390598 CSF3 colony stimulating factor 3 gene DOID:9000998 Brain Injuries ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 12390598 CSF3 colony stimulating factor 3 gene DOID:9000998 Brain Injuries treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:24239694|REF_RGD_ID:11039431 12390598 CSF3 colony stimulating factor 3 gene DOID:9001039 Leukocytosis ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with neoplasms; PMID:18756972|REF_RGD_ID:11039421 12390598 CSF3 colony stimulating factor 3 gene DOID:9001049 Staphylococcal Pneumonia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:10228098|REF_RGD_ID:11039478 12390598 CSF3 colony stimulating factor 3 gene DOID:9001142 Drug-Induced Agranulocytosis treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Graves Disease; PMID:15785251|REF_RGD_ID:11039034 12390598 CSF3 colony stimulating factor 3 gene DOID:9001142 Drug-Induced Agranulocytosis treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Multiple Myeloma; PMID:8935143|REF_RGD_ID:11039041 12390598 CSF3 colony stimulating factor 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15661404 12390598 CSF3 colony stimulating factor 3 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12926135|PMID:17334414 12390598 CSF3 colony stimulating factor 3 gene DOID:9002174 Disease Susceptibility ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20026017 12390598 CSF3 colony stimulating factor 3 gene DOID:9002211 Hyperalgesia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy; PMID:24253780|REF_RGD_ID:11039470 12390598 CSF3 colony stimulating factor 3 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:12742377|REF_RGD_ID:11039465 12390598 CSF3 colony stimulating factor 3 gene DOID:9002641 Bone Marrow Neoplasms ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20026017 12390598 CSF3 colony stimulating factor 3 gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:19169816|REF_RGD_ID:11039433 12390598 CSF3 colony stimulating factor 3 gene DOID:9003139 Cardiac Fibrosis ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Myocardial Infarction; PMID:18676396|REF_RGD_ID:11039480 12390598 CSF3 colony stimulating factor 3 gene DOID:9003199 Systemic Vasculitis ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:23087180|REF_RGD_ID:11039411 12390598 CSF3 colony stimulating factor 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12390598 CSF3 colony stimulating factor 3 gene DOID:9003491 Enterobacteriaceae Infections ISO RGD:2426 D RGD:9068941 20200609 RGD PMID:9835289|REF_RGD_ID:11039473 12390598 CSF3 colony stimulating factor 3 gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:1350955 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:23087180|REF_RGD_ID:11039411 12390598 CSF3 colony stimulating factor 3 gene DOID:9004268 Uterine Neoplasms ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9774950 12390598 CSF3 colony stimulating factor 3 gene DOID:9004283 Transplant Rejection treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:18589159|REF_RGD_ID:11039422 12390598 CSF3 colony stimulating factor 3 gene DOID:9004464 Skin Neoplasms ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9774950 12390598 CSF3 colony stimulating factor 3 gene DOID:9004484 Sepsis ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17505274 12390598 CSF3 colony stimulating factor 3 gene DOID:9004484 Sepsis treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:8706460|REF_RGD_ID:11039434 12390598 CSF3 colony stimulating factor 3 gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic; PMID:17660602|REF_RGD_ID:11039036 12390598 CSF3 colony stimulating factor 3 gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Leukemia, Hairy Cell; PMID:2461131|REF_RGD_ID:11039035 12390598 CSF3 colony stimulating factor 3 gene DOID:9004590 Acute Liver Failure ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21550386 12390598 CSF3 colony stimulating factor 3 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:18756972|PMID:21550386|REF_RGD_ID:11039421|REF_RGD_ID:11039537 12390598 CSF3 colony stimulating factor 3 gene DOID:9005532 Muscle Weakness ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8622042 12390598 CSF3 colony stimulating factor 3 gene DOID:9005600 Infarction ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15135374 12390598 CSF3 colony stimulating factor 3 gene DOID:9005715 Neoplasms, Second Primary ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20026017 12390598 CSF3 colony stimulating factor 3 gene DOID:9005930 Endotoxemia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:9514298|REF_RGD_ID:11039535 12390598 CSF3 colony stimulating factor 3 gene DOID:9006065 Arthralgia ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7543699 12390598 CSF3 colony stimulating factor 3 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7692001 12390598 CSF3 colony stimulating factor 3 gene DOID:9006182 Carotid Artery Injuries ISO RGD:2426 D RGD:9068941 20200609 RGD protein:increased expression:smooth muscle cell: PMID:15385271|REF_RGD_ID:11039423 12390598 CSF3 colony stimulating factor 3 gene DOID:9006205 Animal Disease Models ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27737899 12390598 CSF3 colony stimulating factor 3 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1350955 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:27737899|PMID:31557154|PMID:7692001 12390598 CSF3 colony stimulating factor 3 gene DOID:9007096 Stroke ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:17656664|REF_RGD_ID:5134350 12390598 CSF3 colony stimulating factor 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9018096 12390598 CSF3 colony stimulating factor 3 gene DOID:9007367 Septic Peritonitis treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:8656607|REF_RGD_ID:11039538 12390598 CSF3 colony stimulating factor 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20005281 12390598 CSF3 colony stimulating factor 3 gene DOID:9007429 Soft Tissue Neoplasms ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7543699 12390598 CSF3 colony stimulating factor 3 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:9117128|REF_RGD_ID:11039476 12390598 CSF3 colony stimulating factor 3 gene DOID:9008091 Optic Nerve Injuries treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:20144610|REF_RGD_ID:11039471 12390598 CSF3 colony stimulating factor 3 gene DOID:9008232 Neutrophilia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:2475183|REF_RGD_ID:11039032 12390598 CSF3 colony stimulating factor 3 gene DOID:9008625 Somatosensory Disorders ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7543699 12390598 CSF3 colony stimulating factor 3 gene DOID:9008691 Liver Injury treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:8864679|REF_RGD_ID:11039467 12390598 CSF3 colony stimulating factor 3 gene DOID:9008885 Staphylococcal Infections ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27737899 12390598 CSF3 colony stimulating factor 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12926135|PMID:16076697|PMID:16298037|PMID:17047649|PMID:7541186|PMID:7543699|PMID:7692001|PMID:9018096 12390598 CSF3 colony stimulating factor 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7528855 12390598 CSF3 colony stimulating factor 3 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:10673519|REF_RGD_ID:11039033 12390598 CSF3 colony stimulating factor 3 gene DOID:9538 multiple myeloma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7534716|PMID:7540856 12390598 CSF3 colony stimulating factor 3 gene DOID:9637 stomatitis ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12085204 12390598 CSF3 colony stimulating factor 3 gene DOID:9675 pulmonary emphysema treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:19537526|REF_RGD_ID:11039438 12390598 CSF3 colony stimulating factor 3 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:9250830|REF_RGD_ID:11039038 12390606 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:0060478 Zika fever ISO RGD:1558600 D RGD:9068941 20200702 RGD PMID:30241539|REF_RGD_ID:32733625 12390606 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1605125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 12390606 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:1826 epilepsy ISO RGD:1605125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19558813 12390606 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:2377 multiple sclerosis ISO RGD:1605125 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30661753 12390606 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:630 genetic disease ISO RGD:1605125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12390606 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1605125 D RGD:9068941 20200702 RGD DNA:hypomethylation: CpG islands: PMID:20165882|REF_RGD_ID:14694974 12390606 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:8557 oropharynx cancer disease_progression ISO RGD:1605125 D RGD:9068941 20200702 RGD PMID:31187548|REF_RGD_ID:32716423 12390606 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1605125 D RGD:9068941 20200702 RGD mRNA, protein:decreased expression:liver PMID:26234401|REF_RGD_ID:32716425 12390606 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:1559716 D RGD:9068941 20200709 RGD PMID:29169414|PMID:30226536|REF_RGD_ID:34901873|REF_RGD_ID:35316073 12390606 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30538632 12390606 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:1559716 D RGD:9068941 20200702 RGD PMID:31836774|REF_RGD_ID:32733624 12390606 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1605125 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30661753 12390606 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9004283 Transplant Rejection treatment ISO RGD:1559716 D RGD:9068941 20200709 RGD PMID:31828147|REF_RGD_ID:35316072 12390606 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1559716 D RGD:9068941 20200709 RGD associated with Crush Injuries PMID:30465396|REF_RGD_ID:34901874 12390606 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1605125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30538632 12390606 ERN1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:1559716 D RGD:9068941 20200709 RGD PMID:31007149|REF_RGD_ID:34888237 12390640 BCLAF3 BCLAF1 and THRAP3 family member 3 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1348660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12390640 BCLAF3 BCLAF1 and THRAP3 family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12390640 BCLAF3 BCLAF1 and THRAP3 family member 3 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1348660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12390640 BCLAF3 BCLAF1 and THRAP3 family member 3 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1348660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12390640 BCLAF3 BCLAF1 and THRAP3 family member 3 gene DOID:12849 autistic disorder ISO RGD:1348660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12390640 BCLAF3 BCLAF1 and THRAP3 family member 3 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1348660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12390640 BCLAF3 BCLAF1 and THRAP3 family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12390665 FFAR3 free fatty acid receptor 3 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1322276 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12390665 FFAR3 free fatty acid receptor 3 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1322276 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12390665 FFAR3 free fatty acid receptor 3 gene DOID:10825 essential hypertension ISO RGD:1322276 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 12390665 FFAR3 free fatty acid receptor 3 gene DOID:543 dystonia ISO RGD:1322276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12390665 FFAR3 free fatty acid receptor 3 gene DOID:630 genetic disease ISO RGD:1322276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12390675 OR4K2 olfactory receptor family 4 subfamily K member 2 gene DOID:630 genetic disease ISO RGD:1351442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12390682 IRF2BPL interferon regulatory factor 2 binding protein like gene DOID:0060041 autism spectrum disorder ISO RGD:1322211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12390682 IRF2BPL interferon regulatory factor 2 binding protein like gene DOID:0060224 atrial fibrillation ISO RGD:1322211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12390682 IRF2BPL interferon regulatory factor 2 binding protein like gene DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures ISO RGD:1322211 D RGD:7240710 20190315 OMIM 12390682 IRF2BPL interferon regulatory factor 2 binding protein like gene DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures ISO RGD:1322211 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: IRF2BPL-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures PMID:25741868|PMID:30057031|PMID:30166628|PMID:31432588 12390682 IRF2BPL interferon regulatory factor 2 binding protein like gene DOID:0110548 autosomal dominant nonsyndromic deafness 17 ISO RGD:1322211 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 PMID:25741868 12390682 IRF2BPL interferon regulatory factor 2 binding protein like gene DOID:0111253 neurofibromatosis 1 ISO RGD:1322211 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:25741868 12390682 IRF2BPL interferon regulatory factor 2 binding protein like gene DOID:1059 intellectual disability ISO RGD:1322211 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild PMID:25741868 12390682 IRF2BPL interferon regulatory factor 2 binding protein like gene DOID:1826 epilepsy ISO RGD:1322211 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:30057031 12390682 IRF2BPL interferon regulatory factor 2 binding protein like gene DOID:607 paraplegia ISO RGD:1322211 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868 12390682 IRF2BPL interferon regulatory factor 2 binding protein like gene DOID:630 genetic disease ISO RGD:1322211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30057031 12390682 IRF2BPL interferon regulatory factor 2 binding protein like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12390682 IRF2BPL interferon regulatory factor 2 binding protein like gene DOID:9008086 Developmental Disabilities ISO RGD:1322211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12390722 FXYD4 FXYD domain containing ion transport regulator 4 gene DOID:630 genetic disease ISO RGD:735874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12390788 PKHD1L1 PKHD1 like 1 gene DOID:630 genetic disease ISO RGD:1321293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12390873 ITGB8 integrin subunit beta 8 gene DOID:0050589 inflammatory bowel disease ISO RGD:1322799 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28067908 12390873 ITGB8 integrin subunit beta 8 gene DOID:0080600 COVID-19 ISO RGD:1322799 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12390873 ITGB8 integrin subunit beta 8 gene DOID:289 endometriosis ISO RGD:1322799 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12390873 ITGB8 integrin subunit beta 8 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12390873 ITGB8 integrin subunit beta 8 gene DOID:630 genetic disease ISO RGD:1322799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12390873 ITGB8 integrin subunit beta 8 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1322799 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12390904 SLC22A10 solute carrier family 22 member 10 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602951 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12390904 SLC22A10 solute carrier family 22 member 10 gene DOID:1059 intellectual disability ISO RGD:1602951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12390904 SLC22A10 solute carrier family 22 member 10 gene DOID:3068 glioblastoma ISO RGD:1602951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12390904 SLC22A10 solute carrier family 22 member 10 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1602951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12390904 SLC22A10 solute carrier family 22 member 10 gene DOID:630 genetic disease ISO RGD:1602951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12390904 SLC22A10 solute carrier family 22 member 10 gene DOID:684 hepatocellular carcinoma ISO RGD:1602951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560|PMID:30705370 12390904 SLC22A10 solute carrier family 22 member 10 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1602951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12390904 SLC22A10 solute carrier family 22 member 10 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1602951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 12390924 TEX264 testis expressed 264, ER-phagy receptor gene DOID:630 genetic disease ISO RGD:1347640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12390961 ARSG arylsulfatase G gene DOID:0050439 Usher syndrome ISO RGD:1602225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:29300381 12390961 ARSG arylsulfatase G gene DOID:0060041 autism spectrum disorder ISO RGD:1602225 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12390961 ARSG arylsulfatase G gene DOID:0080074 neural tube defect ISO RGD:1602225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect 12390961 ARSG arylsulfatase G gene DOID:12798 mucopolysaccharidosis ISO RGD:1331908 D RGD:9068941 20220825 MouseDO OMIM:252700 12390961 ARSG arylsulfatase G gene DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:12801476 20210603 OMIA Lysosomal storage disease, ARSG related PMID:12951908|PMID:15365721|PMID:15058771|PMID:20679209|PMID:20429032|PMID:23338040|PMID:24069350|PMID:27778018|PMID:28860089|PMID:32219101|PMID:16916197|PMID:25135642|PMID:22689975|PMID:25452429 12390961 ARSG arylsulfatase G gene DOID:630 genetic disease ISO RGD:1602225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12390961 ARSG arylsulfatase G gene DOID:9005209 Usher Syndrome Type 4 ISO RGD:1602225 D RGD:7240710 20190315 OMIM 12390961 ARSG arylsulfatase G gene DOID:9005209 Usher Syndrome Type 4 ISO RGD:1602225 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 4 PMID:25741868|PMID:28492532|PMID:29300381|PMID:32455177|PMID:33300174|PMID:33629623|PMID:36317447 12390980 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:0060041 autism spectrum disorder ISO RGD:1315674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12390980 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1315674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12390980 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1315674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 12390980 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:0110266 cataract 9 multiple types ISO RGD:1315674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12390980 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:12849 autistic disorder ISO RGD:1315674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12390980 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:574 peripheral nervous system disease ISO RGD:1315674 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 12390980 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:630 genetic disease ISO RGD:1315674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:28633435|PMID:32202298|PMID:9536098 12390980 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:870 neuropathy ISO RGD:1315674 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 12390980 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:891 progressive myoclonus epilepsy ISO RGD:1315674 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12390980 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:9002421 Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development ISO RGD:1315674 D RGD:7240710 20190315 OMIM 12390980 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:9002421 Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development ISO RGD:1315674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development PMID:17576681|PMID:25741868|PMID:28492532|PMID:28633435|PMID:28969388|PMID:29982295|PMID:32202298|PMID:9536098 12390980 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:9263 homocystinuria ISO RGD:1315674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12390980 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:1315674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12391022 TAB1 TGF-beta activated kinase 1 (MAP3K7) binding protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1314707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12391022 TAB1 TGF-beta activated kinase 1 (MAP3K7) binding protein 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1314707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12391022 TAB1 TGF-beta activated kinase 1 (MAP3K7) binding protein 1 gene DOID:630 genetic disease ISO RGD:1314707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391045 LYPD3 LY6/PLAUR domain containing 3 gene DOID:5419 schizophrenia ISO RGD:70834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12391045 LYPD3 LY6/PLAUR domain containing 3 gene DOID:630 genetic disease ISO RGD:70834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391059 SRSF5 serine and arginine rich splicing factor 5 gene DOID:1612 breast cancer severity ISO RGD:734021 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:17651715|REF_RGD_ID:11039450 12391059 SRSF5 serine and arginine rich splicing factor 5 gene DOID:234 colon adenocarcinoma ISO RGD:734021 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon mucosa (human) PMID:9865741|REF_RGD_ID:11039405 12391059 SRSF5 serine and arginine rich splicing factor 5 gene DOID:3602 toxic encephalopathy ISO RGD:734021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12391059 SRSF5 serine and arginine rich splicing factor 5 gene DOID:409 liver disease ISO RGD:734021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12391059 SRSF5 serine and arginine rich splicing factor 5 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:734021 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney (human) PMID:21082031|REF_RGD_ID:11039407 12391059 SRSF5 serine and arginine rich splicing factor 5 gene DOID:630 genetic disease ISO RGD:734021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391059 SRSF5 serine and arginine rich splicing factor 5 gene DOID:9000965 Neoplasm Metastasis ISO RGD:734021 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms;mRNA:increased expression:epithelium of female gonad (human) PMID:23748175|REF_RGD_ID:11039469 12391081 NUP188 nucleoporin 188 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1348104 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12391081 NUP188 nucleoporin 188 gene DOID:0080565 congenital disorder of glycosylation Im ISO RGD:1348104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M 12391081 NUP188 nucleoporin 188 gene DOID:0081272 Sandestig-Stefanova syndrome ISO RGD:1348104 D RGD:7240710 20200318 OMIM 12391081 NUP188 nucleoporin 188 gene DOID:0081272 Sandestig-Stefanova syndrome ISO RGD:1348104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sandestig-stefanova syndrome PMID:24033266|PMID:25741868|PMID:32021605|PMID:32275884 12391081 NUP188 nucleoporin 188 gene DOID:10907 microcephaly ISO RGD:1348104 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:32275884 12391081 NUP188 nucleoporin 188 gene DOID:11162 respiratory failure ISO RGD:1348104 D RGD:9068941 20230330 RGD DNA:frameshift mutations, nonsense mutations:CDS:multiple (human) PMID:32275884|REF_RGD_ID:243048418 12391081 NUP188 nucleoporin 188 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1348104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 12391081 NUP188 nucleoporin 188 gene DOID:630 genetic disease ISO RGD:1348104 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12391132 GFRA4 GDNF family receptor alpha 4 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1343287 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12391132 GFRA4 GDNF family receptor alpha 4 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1343287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12391132 GFRA4 GDNF family receptor alpha 4 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1343287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12391132 GFRA4 GDNF family receptor alpha 4 gene DOID:630 genetic disease ISO RGD:1343287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391132 GFRA4 GDNF family receptor alpha 4 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1343287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 12391143 DCAF17 DDB1 and CUL4 associated factor 17 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1605035 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12391143 DCAF17 DDB1 and CUL4 associated factor 17 gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1605035 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 12391143 DCAF17 DDB1 and CUL4 associated factor 17 gene DOID:0112264 Woodhouse-Sakati syndrome ISO RGD:1605035 D RGD:7240710 20180130 OMIM 12391143 DCAF17 DDB1 and CUL4 associated factor 17 gene DOID:0112264 Woodhouse-Sakati syndrome ISO RGD:1605035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Woodhouse-Sakati syndrome PMID:16199547|PMID:17576681|PMID:17710875|PMID:18049083|PMID:18175354|PMID:18414213|PMID:19026396|PMID:20507343|PMID:21044051|PMID:21964978|PMID:24015686|PMID:24088041|PMID:25326637|PMID:25741868|PMID:26612766|PMID:26633545|PMID:26664771|PMID:27489925|PMID:28492532|PMID:29546359|PMID:31347785|PMID:35876063|PMID:6876115|PMID:9536098 12391143 DCAF17 DDB1 and CUL4 associated factor 17 gene DOID:630 genetic disease ISO RGD:1605035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12391161 MREG melanoregulin gene DOID:630 genetic disease ISO RGD:1604338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391161 MREG melanoregulin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:0050880 Koolen de Vries syndrome ISO RGD:734061 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Koolen-de Vries syndrome PMID:18628315|PMID:21094706|PMID:28492532 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:1059 intellectual disability ISO RGD:734061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:10763 hypertension ISO RGD:61276 D RGD:9068941 20200609 RGD corticotropin releasing hormone-induced PMID:11036160|REF_RGD_ID:1581302 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:12918 thromboangiitis obliterans ISO RGD:61276 D RGD:9068941 20200609 RGD mRNA:increased expression:femoral artery (rat) PMID:19572944|REF_RGD_ID:5508315 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:1470 major depressive disorder ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23529111 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:1574 alcohol use disorder ISO RGD:737026 D RGD:9068941 20200609 RGD PMID:11988580|REF_RGD_ID:734822 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:1596 depressive disorder ISO RGD:61276 D RGD:9068941 20200609 RGD PMID:20860876|REF_RGD_ID:5147490 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:2030 anxiety disorder ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22231481|PMID:9299637 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:2773 contact dermatitis ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12631246 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:2841 asthma ISO RGD:734061 D RGD:9068941 20200609 RGD DNA:SNP: :RS242941 (human) PMID:19663668|REF_RGD_ID:5147485 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:2841 asthma ISO RGD:734061 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1876828, rs242939, rs242941 (human) PMID:16113459|REF_RGD_ID:5147488 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:734061 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs242941) (human) PMID:19210659|REF_RGD_ID:11097322 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:3877 functional colonic disease ISO RGD:61276 D RGD:9068941 20200609 RGD PMID:20096320|REF_RGD_ID:5130948 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:4483 rhinitis ISO RGD:734061 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nasal cavity epithelium PMID:17597629|REF_RGD_ID:5130940 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:630 genetic disease ISO RGD:734061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9001109 Anorexia ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16420149 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:737026 D RGD:9068941 20200609 RGD PMID:21774994|REF_RGD_ID:5147472 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28434951 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9002362 Hyperkinesis ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19339610 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:61276 D RGD:9068941 20200609 RGD PMID:17550594|REF_RGD_ID:1626231 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9003971 Postoperative Pain ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28434951 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:61276 D RGD:9068941 20200609 RGD mRNA:increased expression:anterior pituitary (rat) PMID:12576179|REF_RGD_ID:5508175 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19339610 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9007877 Fetal Hypoxia ISO RGD:61276 D RGD:9068941 20200609 RGD protein:increased expression:paraventricular nucleus of hypothalamus (rat) PMID:19409200|REF_RGD_ID:5491006 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9255 frontotemporal dementia ISO RGD:734061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:18628315|PMID:21094706|PMID:28492532 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:61276 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus (rat) PMID:20472052|REF_RGD_ID:5507823 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9778 irritable bowel syndrome ISO RGD:61276 D RGD:9068941 20200609 RGD protein:increased expression:distal colon (rat) PMID:20096320|REF_RGD_ID:5130948 12391168 CRHR1 corticotropin releasing hormone receptor 1 gene DOID:9970 obesity ISO RGD:734061 D RGD:9068941 20200609 RGD DNA:SNP:CDS:861C>T (human) PMID:14724656|REF_RGD_ID:1626226 12391196 CCDC9 coiled-coil domain containing 9 gene DOID:630 genetic disease ISO RGD:1348427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391237 EEF2KMT eukaryotic elongation factor 2 lysine methyltransferase gene DOID:0080563 congenital disorder of glycosylation Ik ISO RGD:1603258 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K PMID:14709599|PMID:14973782|PMID:17576681|PMID:20679665|PMID:22966035|PMID:23806237|PMID:24157261|PMID:25741868|PMID:26931382|PMID:27325525|PMID:28492532|PMID:28554332|PMID:34567092|PMID:9536098 12391237 EEF2KMT eukaryotic elongation factor 2 lysine methyltransferase gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1603258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 12391237 EEF2KMT eukaryotic elongation factor 2 lysine methyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1603258 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:20679665|PMID:24157261|PMID:26931382|PMID:28492532|PMID:34567092 12391237 EEF2KMT eukaryotic elongation factor 2 lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1603258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20679665|PMID:24157261|PMID:26931382|PMID:28492532|PMID:34567092 12391249 MIR9-2 microRNA mir-9-2 gene DOID:0070050 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ISO RGD:1347128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE PMID:20513142|PMID:27748065|PMID:28492532 12391249 MIR9-2 microRNA mir-9-2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347128 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12391249 MIR9-2 microRNA mir-9-2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12391249 MIR9-2 microRNA mir-9-2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347128 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12391252 MIR374A microRNA mir-374a gene DOID:12849 autistic disorder ISO RGD:1353102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12391252 MIR374A microRNA mir-374a gene DOID:6000 congestive heart failure ISO RGD:1353102 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12391252 MIR374A microRNA mir-374a gene DOID:9003676 Brain Hypoxia-Ischemia severity ISO RGD:1353102 D RGD:9068941 20221020 RGD miRNA:decreased expression:blood serum (human) PMID:29568675|REF_RGD_ID:155598592 12391255 MIR802 microRNA mir-802 gene DOID:14250 Down syndrome ISO RGD:2290261 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29403643 12391255 MIR802 microRNA mir-802 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:2290261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy PMID:25741868|PMID:34355501 12391305 FAXC failed axon connections homolog, metaxin like GST domain containing gene DOID:10283 prostate cancer ISO RGD:1347110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12391305 FAXC failed axon connections homolog, metaxin like GST domain containing gene DOID:630 genetic disease ISO RGD:1347110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391328 SETD7 SET domain containing 7, histone lysine methyltransferase gene DOID:13619 extrahepatic cholestasis treatment ISO RGD:1586346 D RGD:9068941 20200609 RGD PMID:24097032|REF_RGD_ID:9491846 12391328 SETD7 SET domain containing 7, histone lysine methyltransferase gene DOID:1561 cognitive disorder ISO RGD:1606498 D RGD:9068941 20220811 CTD CTD Direct Evidence: therapeutic PMID:35187972 12391328 SETD7 SET domain containing 7, histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1606498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391339 ITCH itchy E3 ubiquitin protein ligase gene DOID:2843 long QT syndrome ISO RGD:1343086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12391339 ITCH itchy E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:1343086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12391339 ITCH itchy E3 ubiquitin protein ligase gene DOID:9003687 Multisystem Autoimmune Disease with Facial Dysmorphism ISO RGD:1343086 D RGD:7240710 20180130 OMIM 12391339 ITCH itchy E3 ubiquitin protein ligase gene DOID:9003687 Multisystem Autoimmune Disease with Facial Dysmorphism ISO RGD:1343086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM | ClinVar Annotator: match by term: Autoimmune disease, syndromic multisystem PMID:16199547|PMID:17576681|PMID:20170897|PMID:25741868|PMID:28492532|PMID:31091003|PMID:9536098 12391374 SPART spartin gene DOID:0050753 cerebellar ataxia ISO RGD:1314206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25558065|PMID:25741868 12391374 SPART spartin gene DOID:0050886 Troyer syndrome ISO RGD:1314206 D RGD:7240710 20180130 OMIM 12391374 SPART spartin gene DOID:0050886 Troyer syndrome ISO RGD:1314206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Troyer syndrome PMID:12134148|PMID:18413476|PMID:20437587|PMID:20504295|PMID:23699601|PMID:25558065|PMID:25741868|PMID:26003402|PMID:26467025|PMID:27112432|PMID:28492532|PMID:28679690 12391374 SPART spartin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1314206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:23699601|PMID:25741868|PMID:26467025|PMID:28492532 12391374 SPART spartin gene DOID:4914 esophagus adenocarcinoma ISO RGD:1314206 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 12391374 SPART spartin gene DOID:630 genetic disease ISO RGD:1314206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18413476|PMID:20437587|PMID:20504295|PMID:25741868|PMID:26003402|PMID:27112432|PMID:28492532 12391395 TMEM50A transmembrane protein 50A gene DOID:630 genetic disease ISO RGD:1606813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391409 MCEE methylmalonyl-CoA epimerase gene DOID:14749 methylmalonic acidemia ISO RGD:1320595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia 12391409 MCEE methylmalonyl-CoA epimerase gene DOID:543 dystonia ISO RGD:1320595 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12391409 MCEE methylmalonyl-CoA epimerase gene DOID:630 genetic disease ISO RGD:1320595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16697227|PMID:16752391|PMID:17823972|PMID:25741868|PMID:25763508|PMID:25954003|PMID:27618451|PMID:27699154|PMID:28490743|PMID:28492532|PMID:29104221|PMID:30682498|PMID:31146325 12391409 MCEE methylmalonyl-CoA epimerase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1320595 D RGD:7240710 20180130 OMIM 12391409 MCEE methylmalonyl-CoA epimerase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1320595 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:17823972|PMID:22522443|PMID:23542699|PMID:24033266|PMID:25741868|PMID:25763508|PMID:25954003|PMID:27618451|PMID:27699154|PMID:28490743|PMID:28492532|PMID:29104221|PMID:30682498|PMID:31146325 12391416 ROGDI rogdi atypical leucine zipper gene DOID:0060041 autism spectrum disorder ISO RGD:1603007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 12391416 ROGDI rogdi atypical leucine zipper gene DOID:0080600 COVID-19 ISO RGD:1603007 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12391416 ROGDI rogdi atypical leucine zipper gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1603007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12391416 ROGDI rogdi atypical leucine zipper gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1603007 D RGD:7240710 20180130 OMIM 12391416 ROGDI rogdi atypical leucine zipper gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1603007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:16199547|PMID:16411202|PMID:17576681|PMID:22424600|PMID:22482807|PMID:23086778|PMID:24630287|PMID:25565929|PMID:25741868|PMID:26467025|PMID:28492532|PMID:3236364|PMID:4372200|PMID:8133980|PMID:9536098 12391416 ROGDI rogdi atypical leucine zipper gene DOID:1826 epilepsy ISO RGD:1603007 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:28492532 12391416 ROGDI rogdi atypical leucine zipper gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603007 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12391416 ROGDI rogdi atypical leucine zipper gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1603007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation PMID:12114483|PMID:17855048|PMID:25805166|PMID:27257017|PMID:28492532 12391416 ROGDI rogdi atypical leucine zipper gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1603007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12391416 ROGDI rogdi atypical leucine zipper gene DOID:630 genetic disease ISO RGD:1603007 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12391431 CDC7 cell division cycle 7 gene DOID:5426 primary ovarian insufficiency ISO RGD:1318070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12391431 CDC7 cell division cycle 7 gene DOID:630 genetic disease ISO RGD:1318070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391448 NFATC4 nuclear factor of activated T cells 4 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1321836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12391448 NFATC4 nuclear factor of activated T cells 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:1321836 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G160A (human) PMID:12939651|REF_RGD_ID:1580248 12391448 NFATC4 nuclear factor of activated T cells 4 gene DOID:630 genetic disease ISO RGD:1321836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391448 NFATC4 nuclear factor of activated T cells 4 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1321836 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12391448 NFATC4 nuclear factor of activated T cells 4 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1321836 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:9568714|REF_RGD_ID:1579956 12391448 NFATC4 nuclear factor of activated T cells 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321836 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12391448 NFATC4 nuclear factor of activated T cells 4 gene DOID:9005968 Neuralgia treatment ISO RGD:1310749 D RGD:9068941 20230427 RGD PMID:23386250|REF_RGD_ID:329337338 12391448 NFATC4 nuclear factor of activated T cells 4 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1321836 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:9568714|REF_RGD_ID:1579956 12391448 NFATC4 nuclear factor of activated T cells 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321836 D RGD:9068941 20211112 CTD CTD Direct Evidence: therapeutic PMID:34192554 12391469 TXNDC16 thioredoxin domain containing 16 gene DOID:630 genetic disease ISO RGD:1315553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391500 KCNV1 potassium voltage-gated channel modifier subfamily V member 1 gene DOID:630 genetic disease ISO RGD:731335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391507 LOC482454 zinc finger protein 684 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1601724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12391507 LOC482454 zinc finger protein 684 gene DOID:630 genetic disease ISO RGD:1601724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391519 PIDD1 p53-induced death domain protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1323429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12391519 PIDD1 p53-induced death domain protein 1 gene DOID:0050729 neutral lipid storage disease ISO RGD:1323429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 12391519 PIDD1 p53-induced death domain protein 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1323429 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12391519 PIDD1 p53-induced death domain protein 1 gene DOID:0081234 autosomal recessive intellectual developmental disorder 75 ISO RGD:1323429 D RGD:7240710 20220427 OMIM 12391519 PIDD1 p53-induced death domain protein 1 gene DOID:0081234 autosomal recessive intellectual developmental disorder 75 ISO RGD:1323429 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly | ClinVar Annotator: match by term: PIDD1-associated neurodevelopmental disorder PMID:16199547|PMID:25741868|PMID:28397838|PMID:28492532|PMID:29302074|PMID:33414379|PMID:34163010 12391519 PIDD1 p53-induced death domain protein 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1323429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12391519 PIDD1 p53-induced death domain protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1323429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12391519 PIDD1 p53-induced death domain protein 1 gene DOID:1059 intellectual disability ISO RGD:1323429 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28397838|PMID:33414379 12391519 PIDD1 p53-induced death domain protein 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1323429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12391519 PIDD1 p53-induced death domain protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:1323429 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20208132 12391519 PIDD1 p53-induced death domain protein 1 gene DOID:630 genetic disease ISO RGD:1323429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391519 PIDD1 p53-induced death domain protein 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1323429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12391543 TIAM2 TIAM Rac1 associated GEF 2 gene DOID:303 substance-related disorder ISO RGD:1345903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12391543 TIAM2 TIAM Rac1 associated GEF 2 gene DOID:630 genetic disease ISO RGD:1345903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391574 BHLHE40 basic helix-loop-helix family member e40 gene DOID:0050628 advanced sleep phase syndrome ISO RGD:68659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25395965 12391574 BHLHE40 basic helix-loop-helix family member e40 gene DOID:0080600 COVID-19 ISO RGD:68659 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12391574 BHLHE40 basic helix-loop-helix family member e40 gene DOID:3068 glioblastoma ISO RGD:68659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23582323 12391574 BHLHE40 basic helix-loop-helix family member e40 gene DOID:3312 bipolar disorder ISO RGD:68659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25395965 12391574 BHLHE40 basic helix-loop-helix family member e40 gene DOID:630 genetic disease ISO RGD:68659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391574 BHLHE40 basic helix-loop-helix family member e40 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12391574 BHLHE40 basic helix-loop-helix family member e40 gene DOID:9007102 Myocardial Ischemia ISO RGD:68659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12391583 OR52E4 olfactory receptor family 52 subfamily E member 4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1353810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12391583 OR52E4 olfactory receptor family 52 subfamily E member 4 gene DOID:630 genetic disease ISO RGD:1353810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391590 ZBTB46 zinc finger and BTB domain containing 46 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12391590 ZBTB46 zinc finger and BTB domain containing 46 gene DOID:0060645 chronic recurrent multifocal osteomyelitis ISO RGD:1345627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic osteomyelitis 12391590 ZBTB46 zinc finger and BTB domain containing 46 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1345627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12391590 ZBTB46 zinc finger and BTB domain containing 46 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1345627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12391590 ZBTB46 zinc finger and BTB domain containing 46 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1345627 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12391590 ZBTB46 zinc finger and BTB domain containing 46 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12391590 ZBTB46 zinc finger and BTB domain containing 46 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1345627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12391590 ZBTB46 zinc finger and BTB domain containing 46 gene DOID:630 genetic disease ISO RGD:1345627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391590 ZBTB46 zinc finger and BTB domain containing 46 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1345627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12391613 HR HR lysine demethylase and nuclear receptor corepressor gene DOID:0050634 alopecia universalis ISO RGD:1344984 D RGD:7240710 20180130 OMIM 12391613 HR HR lysine demethylase and nuclear receptor corepressor gene DOID:0050634 alopecia universalis ISO RGD:1344984 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: ATRICHIA, GENERALIZED | ClinVar Annotator: match by term: Alopecia universalis | ClinVar Annotator: match by term: Alopecia universalis congenita PMID:11410842|PMID:11641275|PMID:11966690|PMID:12406339|PMID:17609203|PMID:20087431|PMID:20512917|PMID:21747609|PMID:21919222|PMID:22584530|PMID:23548463|PMID:24033266|PMID:25741868|PMID:26680117|PMID:28492532|PMID:8790387|PMID:9445480|PMID:9736769|PMID:9758627 12391613 HR HR lysine demethylase and nuclear receptor corepressor gene DOID:0060689 atrichia with papular lesions ISO RGD:1344984 D RGD:7240710 20180130 OMIM 12391613 HR HR lysine demethylase and nuclear receptor corepressor gene DOID:0060689 atrichia with papular lesions ISO RGD:1344984 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Atrichia with papular lesions | ClinVar Annotator: match by term: Papular Atrichia PMID:10205263|PMID:10469319|PMID:11410842|PMID:11966690|PMID:12271294|PMID:17609203|PMID:17869066|PMID:18164595|PMID:20087431|PMID:20512917|PMID:21747609|PMID:21919222|PMID:22584530|PMID:23548463|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8790387|PMID:9445480|PMID:9736769|PMID:9758627|PMID:9856480|PMID:9880231|PMID:9892925 12391613 HR HR lysine demethylase and nuclear receptor corepressor gene DOID:0070044 Coffin-Siris syndrome 2 ISO RGD:1344984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 PMID:21919222|PMID:23548463|PMID:25741868|PMID:28492532 12391613 HR HR lysine demethylase and nuclear receptor corepressor gene DOID:0110701 hypotrichosis 4 ISO RGD:1344984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotrichosis 4 PMID:10777357|PMID:10854110|PMID:11069461|PMID:17680008|PMID:19122663|PMID:19897589|PMID:20659777|PMID:20814945 12391613 HR HR lysine demethylase and nuclear receptor corepressor gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:620634 D RGD:9068941 20211022 RGD PMID:21325752|REF_RGD_ID:150520024 12391613 HR HR lysine demethylase and nuclear receptor corepressor gene DOID:576 proteinuria ISO RGD:620634 D RGD:9068941 20211022 RGD PMID:21325752|REF_RGD_ID:150520024 12391613 HR HR lysine demethylase and nuclear receptor corepressor gene DOID:630 genetic disease ISO RGD:1344984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12391613 HR HR lysine demethylase and nuclear receptor corepressor gene DOID:9001946 Skin Abnormalities ISO RGD:1344984 D RGD:9068941 20200609 RGD atrichia with papular lesions, OMIM:209500 DNA:deletion:exon:2147delC PMID:9856480|REF_RGD_ID:1599576 12391613 HR HR lysine demethylase and nuclear receptor corepressor gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1344984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12391613 HR HR lysine demethylase and nuclear receptor corepressor gene DOID:987 alopecia ISO RGD:1344984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16455232 12391613 HR HR lysine demethylase and nuclear receptor corepressor gene DOID:987 alopecia ISO RGD:1344984 D RGD:9068941 20200609 RGD alopecia universalis congenita, OMIM:203655 DNA:point_mutation:CDS:T3407A -> amino acid V1136D PMID:9736769|REF_RGD_ID:1599575 12391639 AS3MT arsenite methyltransferase gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1350697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25461954 12391639 AS3MT arsenite methyltransferase gene DOID:11054 urinary bladder cancer ISO RGD:1350697 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:22747749|PMID:29669044|PMID:29859237|PMID:32539094 12391639 AS3MT arsenite methyltransferase gene DOID:5419 schizophrenia ISO RGD:1350697 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:27158905 12391639 AS3MT arsenite methyltransferase gene DOID:630 genetic disease ISO RGD:1350697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391639 AS3MT arsenite methyltransferase gene DOID:9003996 Birth Weight ISO RGD:1350697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26928318 12391639 AS3MT arsenite methyltransferase gene DOID:9006493 Glandular and Epithelial Neoplasms ISO RGD:1350697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21447609 12391639 AS3MT arsenite methyltransferase gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1350697 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:24361376 12391639 AS3MT arsenite methyltransferase gene DOID:9007692 Insulin Resistance ISO RGD:1350697 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 12391639 AS3MT arsenite methyltransferase gene DOID:9007964 Arsenic Poisoning ISO RGD:1350697 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21447609|PMID:26366667|PMID:35226250 12391639 AS3MT arsenite methyltransferase gene DOID:9008086 Developmental Disabilities ISO RGD:1350697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28235556 12391651 PLEKHO2 pleckstrin homology domain containing O2 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1601963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12391651 PLEKHO2 pleckstrin homology domain containing O2 gene DOID:2717 Bloom syndrome ISO RGD:1601963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12391651 PLEKHO2 pleckstrin homology domain containing O2 gene DOID:630 genetic disease ISO RGD:1601963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391651 PLEKHO2 pleckstrin homology domain containing O2 gene DOID:9256 colorectal cancer ISO RGD:1601963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12391667 ABHD11 abhydrolase domain containing 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1606493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12391667 ABHD11 abhydrolase domain containing 11 gene DOID:10923 sickle cell anemia ISO RGD:1606493 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12391667 ABHD11 abhydrolase domain containing 11 gene DOID:12849 autistic disorder ISO RGD:1606493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12391667 ABHD11 abhydrolase domain containing 11 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1606493 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 12391667 ABHD11 abhydrolase domain containing 11 gene DOID:1929 supravalvular aortic stenosis ISO RGD:1606493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740 12391667 ABHD11 abhydrolase domain containing 11 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12391667 ABHD11 abhydrolase domain containing 11 gene DOID:5419 schizophrenia ISO RGD:1606493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12391667 ABHD11 abhydrolase domain containing 11 gene DOID:630 genetic disease ISO RGD:1606493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391667 ABHD11 abhydrolase domain containing 11 gene DOID:8445 intestinal volvulus ISO RGD:1606493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12391667 ABHD11 abhydrolase domain containing 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12391667 ABHD11 abhydrolase domain containing 11 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1606493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12391677 ITGAX integrin subunit alpha X gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1348968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16764927 12391677 ITGAX integrin subunit alpha X gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1348968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12391677 ITGAX integrin subunit alpha X gene DOID:630 genetic disease ISO RGD:1348968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391711 STARD8 StAR related lipid transfer domain containing 8 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12391711 STARD8 StAR related lipid transfer domain containing 8 gene DOID:12849 autistic disorder ISO RGD:1351860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12391711 STARD8 StAR related lipid transfer domain containing 8 gene DOID:630 genetic disease ISO RGD:1351860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391711 STARD8 StAR related lipid transfer domain containing 8 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 12391711 STARD8 StAR related lipid transfer domain containing 8 gene DOID:9008939 Breast Neoplasms ISO RGD:1351860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 12391741 IDS iduronate 2-sulfatase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12391741 IDS iduronate 2-sulfatase gene DOID:0080125 mitochondrial DNA depletion syndrome 6 ISO RGD:1351665 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Navajo neurohepatopathy PMID:25741868 12391741 IDS iduronate 2-sulfatase gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1351665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:1303211|PMID:1550586|PMID:18414213|PMID:18500569|PMID:19573456|PMID:21291454|PMID:21829674|PMID:22976768|PMID:22976778|PMID:24515576|PMID:25741868|PMID:27146977|PMID:27848944|PMID:28492532|PMID:29801497|PMID:31877959|PMID:8318991 12391741 IDS iduronate 2-sulfatase gene DOID:12799 mucopolysaccharidosis II ISO RGD:1351665 D RGD:7240710 20180130 OMIM 12391741 IDS iduronate 2-sulfatase gene DOID:12799 mucopolysaccharidosis II ISO RGD:1351665 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, mild form | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, severe form PMID:10215411|PMID:10220152|PMID:10671065|PMID:10738003|PMID:10814710|PMID:10838181|PMID:11452244|PMID:11462244|PMID:11683780|PMID:11731225|PMID:12572848|PMID:1284597|PMID:1303211|PMID:1355630|PMID:14728992|PMID:1550586|PMID:15614569|PMID:16133661|PMID:16199547|PMID:1639384|PMID:16480701|PMID:16495038|PMID:17063374|PMID:17091340|PMID:17284421|PMID:17343270|PMID:17391447|PMID:17576681|PMID:17655837|PMID:18414213|PMID:18500569|PMID:1906048|PMID:19573456|PMID:20104590|PMID:20301451|PMID:21291454|PMID:21639919|PMID:21829674|PMID:22153556|PMID:22190500|PMID:22286622|PMID:22492741|PMID:22912587|PMID:22976768|PMID:22976778|PMID:22990955|PMID:23430829|PMID:24125893|PMID:24268528|PMID:24515576|PMID:24780617|PMID:24875751|PMID:25038527|PMID:25640679|PMID:25681085|PMID:25741868|PMID:25976201|PMID:26407519|PMID:26693516|PMID:26752647|PMID:26762690|PMID:27146977|PMID:27246110|PMID:27351199|PMID:27848944|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:28543354|PMID:28593992|PMID:29801497|PMID:30409495|PMID:30639582|PMID:30755392|PMID:30809705|PMID:31732130|PMID:31877959|PMID:32005694|PMID:32014045|PMID:33075783|PMID:33096603|PMID:33117908|PMID:33124617|PMID:33622387|PMID:33676511|PMID:34670126|PMID:35144014|PMID:35242576|PMID:7581397|PMID:7728156|PMID:7814022|PMID:7866405|PMID:7887413|PMID:8111411|PMID:8318991|PMID:8364592|PMID:8664909|PMID:8807335|PMID:8829647|PMID:8829661|PMID:8830188|PMID:8940265|PMID:9222763|PMID:9266380|PMID:9375851|PMID:9501270|PMID:9536098|PMID:9573369|PMID:9660053|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361 12391741 IDS iduronate 2-sulfatase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1351665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency PMID:1303211|PMID:1550586|PMID:18414213|PMID:18500569|PMID:21291454|PMID:21829674|PMID:25741868|PMID:27146977|PMID:28492532|PMID:8318991 12391741 IDS iduronate 2-sulfatase gene DOID:12849 autistic disorder ISO RGD:1351665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12391741 IDS iduronate 2-sulfatase gene DOID:630 genetic disease ISO RGD:1351665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10215411|PMID:10671065|PMID:1639384|PMID:16495038|PMID:17063374|PMID:17091340|PMID:18414213|PMID:19573456|PMID:21291454|PMID:21639919|PMID:21829674|PMID:22286622|PMID:22976768|PMID:22976778|PMID:24125893|PMID:24515576|PMID:24780617|PMID:25741868|PMID:26407519|PMID:27246110|PMID:27883178|PMID:28077157|PMID:28492532|PMID:29801497|PMID:31877959|PMID:7728156|PMID:7887413|PMID:8940265|PMID:9501270|PMID:9573369|PMID:9875019|PMID:9950361 12391741 IDS iduronate 2-sulfatase gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1351665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 12391741 IDS iduronate 2-sulfatase gene DOID:9005172 Lung Neoplasms ISO RGD:1351665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12391741 IDS iduronate 2-sulfatase gene DOID:9008086 Developmental Disabilities ISO RGD:1351665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:30755392|PMID:34670126 12391757 CERS3 ceramide synthase 3 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1319080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 12391757 CERS3 ceramide synthase 3 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1319080 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lamellar ichthyosis PMID:28875980|PMID:30578701|PMID:33492757 12391757 CERS3 ceramide synthase 3 gene DOID:0060718 autosomal recessive congenital ichthyosis 9 ISO RGD:1319080 D RGD:7240710 20180130 OMIM 12391757 CERS3 ceramide synthase 3 gene DOID:0060718 autosomal recessive congenital ichthyosis 9 ISO RGD:1319080 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 9 PMID:23549421|PMID:23754960|PMID:25741868|PMID:28492532 12391757 CERS3 ceramide synthase 3 gene DOID:10283 prostate cancer ISO RGD:1319080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12391757 CERS3 ceramide synthase 3 gene DOID:630 genetic disease ISO RGD:1319080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12391757 CERS3 ceramide synthase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12391785 CDIN1 CDAN1 interacting nuclease 1 gene DOID:0111397 congenital dyserythropoietic anemia type Ib ISO RGD:1607000 D RGD:7240710 20191009 OMIM 12391785 CDIN1 CDAN1 interacting nuclease 1 gene DOID:0111397 congenital dyserythropoietic anemia type Ib ISO RGD:1607000 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib | ClinVar Annotator: match by term: CDA, TYPE Ib PMID:16643456|PMID:23716552|PMID:25741868|PMID:28492532|PMID:29885034|PMID:31191338|PMID:9220189 12391785 CDIN1 CDAN1 interacting nuclease 1 gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1607000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12391785 CDIN1 CDAN1 interacting nuclease 1 gene DOID:2717 Bloom syndrome ISO RGD:1607000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12391785 CDIN1 CDAN1 interacting nuclease 1 gene DOID:9256 colorectal cancer ISO RGD:1607000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12391817 LOC608075 tripartite motif-containing protein 43-like gene DOID:1059 intellectual disability ISO RGD:4143019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12391817 LOC608075 tripartite motif-containing protein 43-like gene DOID:630 genetic disease ISO RGD:4143019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391817 LOC608075 tripartite motif-containing protein 43-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:4143019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12391828 SLC22A5 solute carrier family 22 member 5 gene DOID:0050700 cardiomyopathy ISO RGD:733710 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.R282fsX295 (human) PMID:15487009|REF_RGD_ID:1580608 12391828 SLC22A5 solute carrier family 22 member 5 gene DOID:0050908 myelodysplastic syndrome ISO RGD:733710 D RGD:9068941 20200609 RGD mRNA:decreased expression:PBMCs (human) PMID:12802501|REF_RGD_ID:1580610 12391828 SLC22A5 solute carrier family 22 member 5 gene DOID:0060041 autism spectrum disorder ISO RGD:733710 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12391828 SLC22A5 solute carrier family 22 member 5 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:733710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency PMID:10051646|PMID:10480371|PMID:11715001|PMID:12210323|PMID:16199547|PMID:16652335|PMID:16830263|PMID:17576681|PMID:17703373|PMID:18337137|PMID:20027113|PMID:20074989|PMID:20208395|PMID:20574985|PMID:21126579|PMID:21864509|PMID:21922592|PMID:2199596|PMID:2235122|PMID:23430858|PMID:23520115|PMID:23653224|PMID:23757202|PMID:23798014|PMID:23963628|PMID:24746540|PMID:24997454|PMID:25132046|PMID:25224063|PMID:25741868|PMID:26190315|PMID:26828774|PMID:27896095|PMID:28166811|PMID:28492532|PMID:28711408|PMID:28841266|PMID:30863740|PMID:31364285|PMID:3215194|PMID:9536098|PMID:9916797 12391828 SLC22A5 solute carrier family 22 member 5 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:733710 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Carnitine deficiency PMID:10051646|PMID:10480371|PMID:11715001|PMID:12210323|PMID:16199547|PMID:16652335|PMID:16830263|PMID:17576681|PMID:17703373|PMID:20027113|PMID:20208395|PMID:20574985|PMID:21864509|PMID:21922592|PMID:2199596|PMID:2235122|PMID:23430858|PMID:23653224|PMID:23757202|PMID:23798014|PMID:23963628|PMID:24746540|PMID:24997454|PMID:25132046|PMID:25224063|PMID:25741868|PMID:27896095|PMID:28492532|PMID:28711408|PMID:28841266|PMID:30863740|PMID:31364285|PMID:3215194|PMID:32371215|PMID:33181153|PMID:9536098|PMID:9916797 12391828 SLC22A5 solute carrier family 22 member 5 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:733710 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency PMID:10051646|PMID:10480371|PMID:11715001|PMID:12210323|PMID:16199547|PMID:16652335|PMID:16830263|PMID:17576681|PMID:17703373|PMID:20027113|PMID:20208395|PMID:20574985|PMID:21864509|PMID:21922592|PMID:2199596|PMID:2235122|PMID:23430858|PMID:23653224|PMID:23757202|PMID:23798014|PMID:23963628|PMID:24746540|PMID:24997454|PMID:25132046|PMID:25224063|PMID:25741868|PMID:27896095|PMID:28492532|PMID:28711408|PMID:28841266|PMID:30863740|PMID:31364285|PMID:3215194|PMID:32371215|PMID:33181153|PMID:34178604|PMID:9536098|PMID:9916797 12391828 SLC22A5 solute carrier family 22 member 5 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:733710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency PMID:10051646|PMID:10480371|PMID:11715001|PMID:12210323|PMID:14605509|PMID:15714519|PMID:16199547|PMID:16652335|PMID:16830263|PMID:17576681|PMID:17703373|PMID:18337137|PMID:20027113|PMID:20074989|PMID:20208395|PMID:20574985|PMID:21864509|PMID:21922592|PMID:2199596|PMID:2235122|PMID:23430858|PMID:23520115|PMID:23653224|PMID:23757202|PMID:23798014|PMID:23963628|PMID:24746540|PMID:24997454|PMID:25132046|PMID:25224063|PMID:25741868|PMID:26190315|PMID:26828774|PMID:27896095|PMID:28492532|PMID:28711408|PMID:28841266|PMID:30863740|PMID:31364285|PMID:3215194|PMID:32371215|PMID:33181153|PMID:34178604|PMID:9536098|PMID:9916797 12391828 SLC22A5 solute carrier family 22 member 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733710 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12391828 SLC22A5 solute carrier family 22 member 5 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:733710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:20074989|PMID:23520115|PMID:25741868|PMID:28492532 12391828 SLC22A5 solute carrier family 22 member 5 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:733710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:20074989|PMID:23520115|PMID:25741868|PMID:28492532 12391828 SLC22A5 solute carrier family 22 member 5 gene DOID:0110889 inflammatory bowel disease 5 ISO RGD:733710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 5 PMID:15107849|PMID:16333318|PMID:17213842 12391828 SLC22A5 solute carrier family 22 member 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:733710 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 12391828 SLC22A5 solute carrier family 22 member 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:733710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic PMID:20074989|PMID:23520115|PMID:25741868|PMID:28492532 12391828 SLC22A5 solute carrier family 22 member 5 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:733710 D RGD:7240710 20180130 OMIM 12391828 SLC22A5 solute carrier family 22 member 5 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:733710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:10051646|PMID:10072434|PMID:10425211|PMID:10454528|PMID:10480371|PMID:10545605|PMID:10559218|PMID:10612840|PMID:10679939|PMID:11058897|PMID:11715001|PMID:12183691|PMID:12204000|PMID:12210323|PMID:12408185|PMID:12409266|PMID:14506273|PMID:14605509|PMID:14665638|PMID:15303004|PMID:15523054|PMID:15617188|PMID:15714519|PMID:16199547|PMID:16602102|PMID:16652335|PMID:16830263|PMID:16931768|PMID:17126586|PMID:17486650|PMID:17576681|PMID:17594400|PMID:17703373|PMID:18337137|PMID:18673259|PMID:19141711|PMID:19208393|PMID:19238580|PMID:19419416|PMID:20027113|PMID:20074989|PMID:20208395|PMID:20574985|PMID:21126579|PMID:21864509|PMID:21922592|PMID:2199596|PMID:22116472|PMID:2216472|PMID:2235122|PMID:22494076|PMID:22989098|PMID:23090741|PMID:23379544|PMID:23430798|PMID:23430858|PMID:23430869|PMID:23520115|PMID:23653224|PMID:23757202|PMID:23798014|PMID:23963628|PMID:24033266|PMID:24516753|PMID:24517888|PMID:24746540|PMID:24997454|PMID:25132046|PMID:25224063|PMID:25525159|PMID:25665836|PMID:25741868|PMID:25846890|PMID:25961151|PMID:26075114|PMID:26190315|PMID:26252091|PMID:26350513|PMID:26633542|PMID:26828774|PMID:26990548|PMID:27181684|PMID:27320645|PMID:27581592|PMID:27629047|PMID:27896095|PMID:27931018|PMID:28074886|PMID:28492532|PMID:28554332|PMID:28711408|PMID:28753539|PMID:28841266|PMID:28857146|PMID:29132460|PMID:29165669|PMID:29790872|PMID:30609409|PMID:30626930|PMID:30838026|PMID:30863740|PMID:30904546|PMID:31187905|PMID:31200524|PMID:31364285|PMID:31737040|PMID:31813139|PMID:31864849|PMID:31980526|PMID:3215194|PMID:32371215|PMID:32371413|PMID:32778825|PMID:32793418|PMID:32870709|PMID:33181153|PMID:33560599|PMID:33757571|PMID:34032155|PMID:34178604|PMID:34249102|PMID:34637945|PMID:35095998|PMID:35281663|PMID:35888728|PMID:3974805|PMID:9536098|PMID:9634512|PMID:9700600|PMID:9700603|PMID:9826541|PMID:9916797 12391828 SLC22A5 solute carrier family 22 member 5 gene DOID:1790 malignant mesothelioma ISO RGD:733710 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12391828 SLC22A5 solute carrier family 22 member 5 gene DOID:630 genetic disease ISO RGD:733710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12210323|PMID:16652335|PMID:16830263|PMID:20574985|PMID:21922592|PMID:23430869|PMID:24997454|PMID:25741868|PMID:28492532 12391828 SLC22A5 solute carrier family 22 member 5 gene DOID:655 inherited metabolic disorder ISO RGD:733710 D RGD:9068941 20200609 RGD primary systemic carnitine deficiency,OMIM:212140;DNA:deletion:exon PMID:3974805|REF_RGD_ID:1624241 12391828 SLC22A5 solute carrier family 22 member 5 gene DOID:820 myocarditis ISO RGD:733710 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 12391828 SLC22A5 solute carrier family 22 member 5 gene DOID:8778 Crohn's disease susceptibility ISO RGD:733710 D RGD:9068941 20200609 RGD DNA:snp, haplotype:promoter:g.-207G>C (human) PMID:15107849|REF_RGD_ID:1580609 12391828 SLC22A5 solute carrier family 22 member 5 gene DOID:9000220 Coxsackievirus Infections ISO RGD:733710 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 12391828 SLC22A5 solute carrier family 22 member 5 gene DOID:9002189 High Myopia ISO RGD:733710 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: High myopia PMID:18673259|PMID:25741868|PMID:26633542|PMID:26828774|PMID:28074886|PMID:28492532|PMID:28841266 12391828 SLC22A5 solute carrier family 22 member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12391828 SLC22A5 solute carrier family 22 member 5 gene DOID:9005372 Inflammation ISO RGD:733710 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 12391828 SLC22A5 solute carrier family 22 member 5 gene DOID:9006534 Nervous System Malformations ISO RGD:733710 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:20208395|PMID:20574985|PMID:21864509|PMID:24033266|PMID:25741868|PMID:28074886|PMID:28492532|PMID:30626930|PMID:31980526|PMID:32371413|PMID:32778825 12391828 SLC22A5 solute carrier family 22 member 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733710 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12391845 FOXB2 forkhead box B2 gene DOID:630 genetic disease ISO RGD:1605769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391849 TM6SF2 transmembrane 6 superfamily member 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1318158 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24531328 12391849 TM6SF2 transmembrane 6 superfamily member 2 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1318158 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26482880 12391849 TM6SF2 transmembrane 6 superfamily member 2 gene DOID:5844 myocardial infarction ISO RGD:1318158 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24633158 12391849 TM6SF2 transmembrane 6 superfamily member 2 gene DOID:630 genetic disease ISO RGD:1318158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391863 NTF4 neurotrophin 4 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12391863 NTF4 neurotrophin 4 gene DOID:0111076 progressive familial heart block type IB ISO RGD:733149 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 12391863 NTF4 neurotrophin 4 gene DOID:0112026 non-syndromic X-linked intellectual disability 99 ISO RGD:733149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 PMID:19765683|PMID:20215012|PMID:20463313|PMID:25741868|PMID:27535533 12391863 NTF4 neurotrophin 4 gene DOID:1059 intellectual disability ISO RGD:733149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11357950 12391863 NTF4 neurotrophin 4 gene DOID:12849 autistic disorder ISO RGD:733149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11357950|PMID:16289943 12391863 NTF4 neurotrophin 4 gene DOID:2841 asthma ISO RGD:1553502 D RGD:9068941 20200609 RGD protein:increased expression:lung, serum PMID:17497413|REF_RGD_ID:4891068 12391863 NTF4 neurotrophin 4 gene DOID:630 genetic disease ISO RGD:733149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391863 NTF4 neurotrophin 4 gene DOID:8927 learning disability ISO RGD:1553502 D RGD:9068941 20200609 RGD PMID:10869436|REF_RGD_ID:737722 12391863 NTF4 neurotrophin 4 gene DOID:9002955 Nerve Degeneration ISO RGD:1553502 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8921280 12391863 NTF4 neurotrophin 4 gene DOID:9002955 Nerve Degeneration ISO RGD:733149 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8921280 12391863 NTF4 neurotrophin 4 gene DOID:9007746 Glaucoma 1, Open Angle, O ISO RGD:733149 D RGD:7240710 20180130 OMIM 12391863 NTF4 neurotrophin 4 gene DOID:9007746 Glaucoma 1, Open Angle, O ISO RGD:733149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, O PMID:19765683|PMID:20215012|PMID:20463313|PMID:25741868|PMID:27535533 12391863 NTF4 neurotrophin 4 gene DOID:9008023 Memory Disorders ISO RGD:1553502 D RGD:9068941 20200609 RGD PMID:10869436|REF_RGD_ID:737722 12391874 TMEM98 transmembrane protein 98 gene DOID:630 genetic disease ISO RGD:1607062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391874 TMEM98 transmembrane protein 98 gene DOID:9008422 Nanophthalmos 4 ISO RGD:1607062 D RGD:7240710 20180130 OMIM 12391874 TMEM98 transmembrane protein 98 gene DOID:9008422 Nanophthalmos 4 ISO RGD:1607062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nanophthalmos 4 PMID:24852644|PMID:26392740 12391887 ICAM3 intercellular adhesion molecule 3 gene DOID:12236 primary biliary cholangitis ISO RGD:1343048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 12391887 ICAM3 intercellular adhesion molecule 3 gene DOID:630 genetic disease ISO RGD:1343048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391909 ARMCX2 armadillo repeat containing X-linked 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12391909 ARMCX2 armadillo repeat containing X-linked 2 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1602335 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 12391909 ARMCX2 armadillo repeat containing X-linked 2 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1602335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 12391909 ARMCX2 armadillo repeat containing X-linked 2 gene DOID:12849 autistic disorder ISO RGD:1602335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12391909 ARMCX2 armadillo repeat containing X-linked 2 gene DOID:630 genetic disease ISO RGD:1602335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391933 LOC100856137 HLA class II histocompatibility antigen, DQ beta 2 chain gene DOID:0050553 JMP syndrome ISO RGD:1354401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12391933 LOC100856137 HLA class II histocompatibility antigen, DQ beta 2 chain gene DOID:0080600 COVID-19 ISO RGD:1354401 D RGD:9068941 20201203 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12391963 OR5B2 olfactory receptor family 5 subfamily B member 2 gene DOID:1059 intellectual disability ISO RGD:1350221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12391963 OR5B2 olfactory receptor family 5 subfamily B member 2 gene DOID:630 genetic disease ISO RGD:1350221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391974 CHP2 calcineurin like EF-hand protein 2 gene DOID:630 genetic disease ISO RGD:1606515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391980 CPSF4L cleavage and polyadenylation specific factor 4 like gene DOID:630 genetic disease ISO RGD:2290025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:0050827 rheumatic heart disease ISO RGD:2192 D RGD:9068941 20230202 RGD mRNA:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12754746 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:2192 D RGD:9068941 20200609 RGD associated with gastric adenocarcinoma PMID:29588340|REF_RGD_ID:13792594 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:0060108 brain glioma treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:27255231|PMID:29324390|REF_RGD_ID:13792502|REF_RGD_ID:13792598 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:10283 prostate cancer ISO RGD:70373 D RGD:9068941 20200609 RGD PMID:17575222|PMID:18444130|REF_RGD_ID:1643354|REF_RGD_ID:2292907 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:10286 prostate carcinoma disease_progression ISO RGD:70373 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland epithelium PMID:17454944|REF_RGD_ID:1643355 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:10534 stomach cancer treatment ISO RGD:70373 D RGD:9068941 20210611 RGD human cells in mouse model PMID:29408335|REF_RGD_ID:127284846 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:10652 Alzheimer's disease ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:16265626|PMID:17639989|REF_RGD_ID:10054047|REF_RGD_ID:2293073 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:10652 Alzheimer's disease ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18077176 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:10652 Alzheimer's disease ISO RGD:70373 D RGD:9068941 20200609 RGD PMID:8990132|REF_RGD_ID:10054039 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:10652 Alzheimer's disease treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:21585051|PMID:29587274|PMID:29777699|REF_RGD_ID:10054049|REF_RGD_ID:13782186|REF_RGD_ID:13782188 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:10763 hypertension treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:20065158|REF_RGD_ID:10053702 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:11054 urinary bladder cancer ISO RGD:70373 D RGD:9068941 20200609 RGD PMID:18452128|REF_RGD_ID:2296023 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:114 heart disease ISO RGD:2192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19820199|REF_RGD_ID:2314021 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:11476 osteoporosis treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:22648569|REF_RGD_ID:10054093 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:11612 polycystic ovary syndrome ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21062263 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:11650 bronchopulmonary dysplasia ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:26431790|REF_RGD_ID:11537057 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:12336 male infertility ISO RGD:10226 D RGD:9068941 20200609 RGD PMID:7569956|REF_RGD_ID:734632 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:12336 male infertility ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24723216 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:127 leiomyoma treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23789224|REF_RGD_ID:10054112 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:12704 ataxia telangiectasia susceptibility ISO RGD:70373 D RGD:9068941 20200609 RGD DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human) PMID:19898928|REF_RGD_ID:14394817 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:12858 Huntington's disease ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:11299004|REF_RGD_ID:10054041 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:12858 Huntington's disease treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:18938217|REF_RGD_ID:10054048 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:12930 dilated cardiomyopathy ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:26004897|REF_RGD_ID:13782348 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:12930 dilated cardiomyopathy treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23980359|REF_RGD_ID:10054117 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:1307 dementia treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:21473886|REF_RGD_ID:10054040 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:14221 abdominal obesity-metabolic syndrome 1 treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:27131981|REF_RGD_ID:13792503 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:1520 colon carcinoma ISO RGD:70373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:10984511|PMID:9020077|PMID:9453486|PMID:9531611 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:1596 depressive disorder treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:21308783|REF_RGD_ID:10054142 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:1612 breast cancer disease_progression ISO RGD:70373 D RGD:9068941 20200609 RGD PMID:17626754|REF_RGD_ID:1643353 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:1686 glaucoma ISO RGD:2192 D RGD:9068941 20200609 RGD mRNA:increased expression:optic nerve, retina PMID:24357921|REF_RGD_ID:10054098 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:1824 status epilepticus treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:22849356|REF_RGD_ID:10054246 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:1875 impotence treatment ISO RGD:2192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21235725|REF_RGD_ID:10053666 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:2055 post-traumatic stress disorder ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23381833|REF_RGD_ID:10054113 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:224 transient cerebral ischemia treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:21167243|REF_RGD_ID:10054102 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:234 colon adenocarcinoma susceptibility ISO RGD:70373 D RGD:9068941 20200609 RGD DNA:frameshift mutation: ; PMID:9020077|REF_RGD_ID:734633 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:2560 morphine dependence treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:24906198|REF_RGD_ID:10054248 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:289 endometriosis treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23406865|REF_RGD_ID:7257718 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:3021 acute kidney failure ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:3021 acute kidney failure treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:20037173|REF_RGD_ID:10053672 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:326 ischemia ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15172883 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:3307 teratoma disease_progression ISO RGD:70373 D RGD:9068941 20200609 RGD PMID:17390059|REF_RGD_ID:2296025 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:10226 D RGD:9068941 20200609 RGD PMID:10582606|REF_RGD_ID:13506907 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:10226 D RGD:9068941 20200609 RGD PMID:20195368|PMID:21193837|REF_RGD_ID:13506800|REF_RGD_ID:13506805 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:10226 D RGD:9068941 20200609 RGD PMID:20890041|PMID:24699224|REF_RGD_ID:13506797|REF_RGD_ID:13506803 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23143152|REF_RGD_ID:10054501 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:3669 intermittent claudication ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23658678|REF_RGD_ID:9586024 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:3744 cervical squamous cell carcinoma ISO RGD:70373 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17694953|REF_RGD_ID:1643352 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:70373 D RGD:9068941 20210903 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:4448 macular degeneration ISO RGD:70373 D RGD:9068941 20200609 RGD PMID:20054800|REF_RGD_ID:10043353 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:4467 clear cell renal cell carcinoma ISO RGD:70373 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:28551630|REF_RGD_ID:15036804 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:2192 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:12234300|REF_RGD_ID:1579984 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:5295 intestinal disease treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:24228095|REF_RGD_ID:10058972 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:5434 scrapie ISO RGD:10226 D RGD:9068941 20200609 RGD PMID:27921253|REF_RGD_ID:13782156 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:70373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia PMID:9531611 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:5844 myocardial infarction ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20079142|PMID:25450231 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:6000 congestive heart failure treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:18097624|PMID:29746994|REF_RGD_ID:10054097|REF_RGD_ID:13792577 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:630 genetic disease ISO RGD:70373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10984511|PMID:9020077|PMID:9453486|PMID:9531611 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:649 prion disease ISO RGD:10226 D RGD:9068941 20200609 RGD PMID:15618403|REF_RGD_ID:13782157 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2192 D RGD:9068941 20220714 RGD PMID:33841550|REF_RGD_ID:152998960 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:7166 thyroiditis ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:20968180|REF_RGD_ID:10054115 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:8398 osteoarthritis ISO RGD:70373 D RGD:9068941 20200609 RGD PMID:19217321|REF_RGD_ID:10053643 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:8398 osteoarthritis ISO RGD:70373 D RGD:9068941 20200609 RGD protein:increased expression:chondrocyte PMID:16864079|REF_RGD_ID:10054095 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:8466 retinal degeneration ISO RGD:2192 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:24166353|REF_RGD_ID:11522757 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9000027 Microsatellite Instability ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:27256506|REF_RGD_ID:13792677 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9000117 Esophageal Neoplasms ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17634542 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9000288 Chronic Intermittent Hypoxia treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:26769958|REF_RGD_ID:13792505 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9000965 Neoplasm Metastasis ISO RGD:70373 D RGD:9068941 20200609 RGD associated with Carcinoma, Infiltrating Duct PMID:17288732|REF_RGD_ID:1643356 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9000998 Brain Injuries treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:20888848|REF_RGD_ID:10054247 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9001390 Testis Reperfusion Injury ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:26754107|REF_RGD_ID:11555349 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23056591|REF_RGD_ID:10053711 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2192 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:22647552|REF_RGD_ID:10053673 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:21092002|REF_RGD_ID:5134995 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2192 D RGD:9068941 20200609 RGD associated with Non-alcoholic Fatty Liver Disease PMID:22847887|REF_RGD_ID:10053710 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9002221 Hyperplasia ISO RGD:10226 D RGD:9068941 20200609 RGD PMID:7569956|REF_RGD_ID:734632 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:22932950|REF_RGD_ID:10054114 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9002245 Intestinal Neoplasms ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12663524 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9002304 Prostatic Neoplasms ISO RGD:10226 D RGD:9068941 20200609 RGD PMID:18317887|REF_RGD_ID:2291908 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9002304 Prostatic Neoplasms ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17542986 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9002331 Knee Osteoarthritis treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:20131282|REF_RGD_ID:6907382 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9002457 Experimental Arthritis ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:21199477|REF_RGD_ID:10054249 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:22978269|REF_RGD_ID:10054498 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9002644 Premature Aging treatment ISO RGD:10226 D RGD:9068941 20200609 RGD PMID:21359432|REF_RGD_ID:6480478 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9002676 Cerebral Hemorrhage ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12721362 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9002928 Colonic Neoplasms ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17404573 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9002955 Nerve Degeneration ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20385067 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:2192 D RGD:9068941 20230128 RGD PMID:21189961|PMID:24089674|PMID:29635023|REF_RGD_ID:10054502|REF_RGD_ID:13782292|REF_RGD_ID:155882465 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9004009 Reperfusion Injury ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:18221257|REF_RGD_ID:2293026 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9004009 Reperfusion Injury ISO RGD:2192 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:18083315|REF_RGD_ID:2290557 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9004038 Kashin-Beck Disease ISO RGD:70373 D RGD:9068941 20200609 RGD protein:increased expression:articular cartilage, chondrocyte PMID:16511931|REF_RGD_ID:10054094 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9004610 Acute Lung Injury ISO RGD:2192 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:20663300|REF_RGD_ID:10054109 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9005181 Multi-Infarct Dementia treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:18938189|REF_RGD_ID:10054050 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:20732338|REF_RGD_ID:10053708 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23404339|REF_RGD_ID:10053670 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2192 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18991018|REF_RGD_ID:2311240 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23090186 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23267840|REF_RGD_ID:10054099 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9005930 Endotoxemia ISO RGD:2192 D RGD:9068941 20200609 RGD mRNA:increased expression:diaphragm PMID:23940949|REF_RGD_ID:10054120 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23151253|REF_RGD_ID:10054101 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9006827 Lung Reperfusion Injury ameliorates ISO RGD:10226 D RGD:9068941 20220915 RGD PMID:34238924|REF_RGD_ID:153350155 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23953793|REF_RGD_ID:10054119 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:10226 D RGD:9068941 20230302 RGD PMID:36044268|REF_RGD_ID:156430337 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:22014268|REF_RGD_ID:10054500 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:10226 D RGD:9068941 20230406 RGD associated with myocardial infarction PMID:25726944|REF_RGD_ID:11252030 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17906064 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9007730 Burns treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:22153006|REF_RGD_ID:10054126 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20026869 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2192 D RGD:9068941 20220923 RGD PMID:21223820|PMID:25547710|PMID:31583047|REF_RGD_ID:10054103|REF_RGD_ID:13782178|REF_RGD_ID:155230831 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9008091 Optic Nerve Injuries ISO RGD:2192 D RGD:9068941 20200609 RGD mRNA:increased expression:optic nerve, retina PMID:24357921|REF_RGD_ID:10054098 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9008443 Colorectal Neoplasms ISO RGD:70373 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9008622 Adrenal Insufficiency ISO RGD:2192 D RGD:9068941 20200609 RGD associated with Pancreatitis, Acute Necrotizing;protein:increased expression:adrenal cortex PMID:21161352|REF_RGD_ID:6482719 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9008824 Sarcopenia ISO RGD:2192 D RGD:9068941 20200609 RGD mRNA:decreased expression:plantaris PMID:17029665|REF_RGD_ID:2325745 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9008939 Breast Neoplasms ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22572619 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9008975 Gastrointestinal Hemorrhage treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:24058648|REF_RGD_ID:10058975 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9256 colorectal cancer ISO RGD:70373 D RGD:7240710 20200226 OMIM 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31626838 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:22543177|REF_RGD_ID:10054139 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:2192 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9952 acute lymphoblastic leukemia ISO RGD:70373 D RGD:7240710 20230505 OMIM 12391987 BAX BCL2 associated X, apoptosis regulator gene DOID:9965 toxoplasmosis ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:24812878|REF_RGD_ID:10054127 12391995 ADCK2 aarF domain containing kinase 2 gene DOID:0080690 RASopathy ISO RGD:1322312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12391995 ADCK2 aarF domain containing kinase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12391995 ADCK2 aarF domain containing kinase 2 gene DOID:630 genetic disease ISO RGD:1322312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12391995 ADCK2 aarF domain containing kinase 2 gene DOID:699 mitochondrial myopathy ISO RGD:1322313 D RGD:9068941 20220825 MouseDO OMIM:251900 12392008 ZNF638 zinc finger protein 638 gene DOID:543 dystonia ISO RGD:1349975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12392008 ZNF638 zinc finger protein 638 gene DOID:630 genetic disease ISO RGD:1349975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392008 ZNF638 zinc finger protein 638 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1349975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12392053 KANK3 KN motif and ankyrin repeat domains 3 gene DOID:0080490 mucolipidosis type IV ISO RGD:1602171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 12392053 KANK3 KN motif and ankyrin repeat domains 3 gene DOID:0080600 COVID-19 ISO RGD:1602171 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12392053 KANK3 KN motif and ankyrin repeat domains 3 gene DOID:12849 autistic disorder ISO RGD:1602171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12392053 KANK3 KN motif and ankyrin repeat domains 3 gene DOID:630 genetic disease ISO RGD:1602171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392076 BTBD3 BTB domain containing 3 gene DOID:630 genetic disease ISO RGD:1323177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392094 MFF mitochondrial fission factor gene DOID:224 transient cerebral ischemia treatment ISO RGD:1310230 D RGD:9068941 20200609 RGD PMID:26116440|REF_RGD_ID:12879457 12392094 MFF mitochondrial fission factor gene DOID:5844 myocardial infarction ISO RGD:1321011 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23867156 12392094 MFF mitochondrial fission factor gene DOID:5844 myocardial infarction treatment ISO RGD:1321012 D RGD:9068941 20200609 RGD PMID:23867156|REF_RGD_ID:12879458 12392094 MFF mitochondrial fission factor gene DOID:630 genetic disease ISO RGD:1321011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12392094 MFF mitochondrial fission factor gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1321011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalomyopathy PMID:22499341|PMID:25558065 12392094 MFF mitochondrial fission factor gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1321011 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23867156 12392094 MFF mitochondrial fission factor gene DOID:9002077 Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 2 ISO RGD:1321011 D RGD:7240710 20200122 OMIM 12392094 MFF mitochondrial fission factor gene DOID:9002077 Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 2 ISO RGD:1321011 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 2 PMID:22499341|PMID:25558065|PMID:25741868|PMID:26783368|PMID:28492532|PMID:32181496|PMID:34750646 12392136 NR2F2 nuclear receptor subfamily 2 group F member 2 gene DOID:0080943 46,XX sex reversal 5 ISO RGD:735361 D RGD:7240710 20200701 OMIM 12392136 NR2F2 nuclear receptor subfamily 2 group F member 2 gene DOID:0080943 46,XX sex reversal 5 ISO RGD:735361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,xx sex reversal 5 PMID:25741868|PMID:27363585|PMID:29478779 12392136 NR2F2 nuclear receptor subfamily 2 group F member 2 gene DOID:10763 hypertension ISO RGD:69305 D RGD:9068941 20200609 RGD PMID:25687237|REF_RGD_ID:10401852 12392136 NR2F2 nuclear receptor subfamily 2 group F member 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:735362 D RGD:9068941 20220825 MouseDO 12392136 NR2F2 nuclear receptor subfamily 2 group F member 2 gene DOID:289 endometriosis ISO RGD:735361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12392136 NR2F2 nuclear receptor subfamily 2 group F member 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:735362 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 12392136 NR2F2 nuclear receptor subfamily 2 group F member 2 gene DOID:630 genetic disease ISO RGD:735361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:29222010|PMID:32719394 12392136 NR2F2 nuclear receptor subfamily 2 group F member 2 gene DOID:9002809 Congenital Heart Defects, Multiple Types, 4 ISO RGD:735361 D RGD:7240710 20180130 OMIM 12392136 NR2F2 nuclear receptor subfamily 2 group F member 2 gene DOID:9002809 Congenital Heart Defects, Multiple Types, 4 ISO RGD:735361 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 4 PMID:10215630|PMID:24702954|PMID:25741868|PMID:27363585|PMID:28492532|PMID:29222010|PMID:29478779|PMID:29570242|PMID:29663647 12392136 NR2F2 nuclear receptor subfamily 2 group F member 2 gene DOID:9003735 Splenic Hypoplasia ISO RGD:735361 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Asplenia PMID:24702954|PMID:25741868 12392136 NR2F2 nuclear receptor subfamily 2 group F member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 12392136 NR2F2 nuclear receptor subfamily 2 group F member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12392136 NR2F2 nuclear receptor subfamily 2 group F member 2 gene DOID:9007456 Female Infertility ISO RGD:735361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17590085 12392136 NR2F2 nuclear receptor subfamily 2 group F member 2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:735361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17436238 12392149 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12392149 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 12392149 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12392149 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12392149 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12392149 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12392149 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:5812 MHC class II deficiency ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12392149 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:630 genetic disease ISO RGD:1606308 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12392149 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:9003777 Immunodeficiency due to Defect in MAPBP-Interacting Protein ISO RGD:1606308 D RGD:7240710 20180130 OMIM 12392149 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:9003777 Immunodeficiency due to Defect in MAPBP-Interacting Protein ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency due to defect in mapbp-interacting protein PMID:17195838|PMID:22968171|PMID:25741868|PMID:28492532 12392149 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12392167 PAOX polyamine oxidase gene DOID:0060041 autism spectrum disorder ISO RGD:1320571 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12392167 PAOX polyamine oxidase gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1320571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12392167 PAOX polyamine oxidase gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1320571 D RGD:9068941 20220407 RGD DNA:SNPs: :rs7316, rs1046175(human) PMID:31016788|REF_RGD_ID:151667418 12392167 PAOX polyamine oxidase gene DOID:630 genetic disease ISO RGD:1320571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392167 PAOX polyamine oxidase gene DOID:9007096 Stroke ISO RGD:1320571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16269634 12392169 GJB1 gap junction protein beta 1 gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:732555 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dejerine-Sottas disease PMID:10737979|PMID:15241803|PMID:15947997|PMID:20301548|PMID:25741868|PMID:28492532|PMID:9633821 12392169 GJB1 gap junction protein beta 1 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:732555 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:10071100|PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10234007|PMID:10400511|PMID:10521546|PMID:10586261|PMID:10586279|PMID:10586284|PMID:10586291|PMID:10587015|PMID:10639608|PMID:10646523|PMID:10671058|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10894999|PMID:10923043|PMID:10931843|PMID:11030070|PMID:11140841|PMID:11252295|PMID:11266688|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11545686|PMID:11562788|PMID:11571214|PMID:11718056|PMID:11723288|PMID:11835375|PMID:12111842|PMID:1211842|PMID:12185164|PMID:12297581|PMID:12362307|PMID:12402337|PMID:12457340|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12499506|PMID:12536289|PMID:12542510|PMID:12707076|PMID:14627639|PMID:14663027|PMID:14663144|PMID:14680548|PMID:14706470|PMID:14960772|PMID:14991359|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15470753|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16301507|PMID:16373087|PMID:16401743|PMID:16442804|PMID:16476939|PMID:16688595|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17353473|PMID:17576681|PMID:17620124|PMID:17646144|PMID:17714866|PMID:18254389|PMID:18379723|PMID:18380028|PMID:18380031|PMID:18636082|PMID:18714809|PMID:18717720|PMID:19062535|PMID:19259128|PMID:19297523|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19468074|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20301548|PMID:20491857|PMID:20532933|PMID:20730878|PMID:20942588|PMID:21149811|PMID:21254193|PMID:21280457|PMID:21282593|PMID:21291455|PMID:21309765|PMID:21504505|PMID:21607969|PMID:21692908|PMID:21918739|PMID:21922480|PMID:22243284|PMID:22464564|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23011429|PMID:23106488|PMID:23209285|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23707145|PMID:23827825|PMID:23838279|PMID:23871722|PMID:24078732|PMID:24290847|PMID:24327141|PMID:24444136|PMID:24484554|PMID:24627108|PMID:24724718|PMID:24768312|PMID:24863494|PMID:24958582|PMID:25025039|PMID:25043634|PMID:25388846|PMID:25429913|PMID:25614874|PMID:25741868|PMID:25771809|PMID:25802885|PMID:25883816|PMID:25947624|PMID:25969535|PMID:26274329|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26955336|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27098243|PMID:27098783|PMID:27228968|PMID:27234031|PMID:27367520|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27812541|PMID:27844031|PMID:27862672|PMID:28071741|PMID:28097225|PMID:28283593|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:28797703|PMID:28902413|PMID:29077882|PMID:29095325|PMID:29236290|PMID:29245364|PMID:29462293|PMID:29629536|PMID:29998508|PMID:30196252|PMID:30340945|PMID:30373780|PMID:30737405|PMID:31119804|PMID:31211173|PMID:31220874|PMID:31323543|PMID:31372974|PMID:31827005|PMID:31842800|PMID:31902012|PMID:31919945|PMID:31920494|PMID:32010055|PMID:32022442|PMID:32376792|PMID:32399692|PMID:32903794|PMID:33105617|PMID:33136338|PMID:33314704|PMID:34089394|PMID:7477983|PMID:7580242|PMID:7833935|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8304339|PMID:8698335|PMID:8733054|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8889588|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452025|PMID:9452099|PMID:9469571|PMID:9536098|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9760211|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 12392169 GJB1 gap junction protein beta 1 gene DOID:0050753 cerebellar ataxia ISO RGD:732555 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:11438991|PMID:11571214|PMID:15468313|PMID:18717720|PMID:20193560|PMID:23384994|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28768847|PMID:9361298|PMID:9818870 12392169 GJB1 gap junction protein beta 1 gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:732555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532 12392169 GJB1 gap junction protein beta 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2559087 12392169 GJB1 gap junction protein beta 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12392169 GJB1 gap junction protein beta 1 gene DOID:0110153 Charcot-Marie-Tooth disease type 1E ISO RGD:732555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEAFNESS WITH CHARCOT-MARIE-TOOTH DISEASE PMID:12402337|PMID:15241803|PMID:25741868|PMID:26467025|PMID:28492532 12392169 GJB1 gap junction protein beta 1 gene DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 ISO RGD:732555 D RGD:7240710 20180130 OMIM 12392169 GJB1 gap junction protein beta 1 gene DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 ISO RGD:732555 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 | ClinVar Annotator: match by term: X-linked Charcot-Marie-Tooth disease type 1 PMID:10071100|PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10487913|PMID:10521546|PMID:10586261|PMID:10586279|PMID:10639608|PMID:10671058|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10923043|PMID:10931843|PMID:11140841|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11562788|PMID:11571214|PMID:11723288|PMID:11734543|PMID:11835375|PMID:11891346|PMID:12111842|PMID:1211842|PMID:12185164|PMID:12207932|PMID:12297581|PMID:12362307|PMID:12402337|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12499506|PMID:12542510|PMID:12707076|PMID:14627639|PMID:14663027|PMID:14960772|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15470753|PMID:15719046|PMID:15852376|PMID:15947997|PMID:16079393|PMID:16301507|PMID:16442804|PMID:16476939|PMID:16688595|PMID:16922730|PMID:17100997|PMID:17353473|PMID:17576681|PMID:17620124|PMID:18254389|PMID:18379723|PMID:18380028|PMID:18714809|PMID:18717720|PMID:19062535|PMID:19259128|PMID:19297523|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20301548|PMID:21149811|PMID:21254193|PMID:21291455|PMID:21309765|PMID:21326314|PMID:21504505|PMID:21692908|PMID:21918739|PMID:22243284|PMID:22464564|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23106488|PMID:23209285|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23707145|PMID:23773993|PMID:23806086|PMID:23827825|PMID:23871722|PMID:24088041|PMID:24327141|PMID:24444136|PMID:25025039|PMID:25429913|PMID:25741868|PMID:25802885|PMID:25947624|PMID:26257172|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26955336|PMID:27025386|PMID:27027447|PMID:27098243|PMID:27098783|PMID:27544631|PMID:27804109|PMID:27844031|PMID:27862672|PMID:28071741|PMID:28097225|PMID:28283593|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:29077882|PMID:29086968|PMID:29095325|PMID:29236290|PMID:29245364|PMID:29462293|PMID:29998508|PMID:30196252|PMID:30340945|PMID:30373780|PMID:31211173|PMID:31220874|PMID:31323543|PMID:31372974|PMID:31673878|PMID:31827005|PMID:31842800|PMID:31920494|PMID:32010055|PMID:32022442|PMID:32376792|PMID:32399692|PMID:32903794|PMID:33105617|PMID:33136338|PMID:33314704|PMID:34089394|PMID:427531|PMID:7477983|PMID:7580242|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8304339|PMID:8698335|PMID:8733054|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8889588|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452099|PMID:9536098|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 12392169 GJB1 gap junction protein beta 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:732555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:10102421|PMID:10207904|PMID:10848620|PMID:11571214|PMID:21291455|PMID:25741868|PMID:27544631|PMID:28071741|PMID:28469099|PMID:28492532|PMID:31220874|PMID:31323543|PMID:31842800|PMID:32376792|PMID:33314704|PMID:8004109|PMID:9361298 12392169 GJB1 gap junction protein beta 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10234007|PMID:10487913|PMID:10521546|PMID:10586227|PMID:10586261|PMID:10586279|PMID:10586284|PMID:10586291|PMID:10587015|PMID:10639608|PMID:10646523|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10894999|PMID:10923043|PMID:10931843|PMID:10938190|PMID:11030070|PMID:11085599|PMID:11140841|PMID:11180613|PMID:11252295|PMID:11257785|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11545686|PMID:11562788|PMID:11571214|PMID:11723288|PMID:11835375|PMID:11891346|PMID:12111842|PMID:1211842|PMID:12185164|PMID:12207932|PMID:12325071|PMID:12362307|PMID:12402337|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12536289|PMID:12542510|PMID:12614935|PMID:12707076|PMID:14607795|PMID:14627639|PMID:14663027|PMID:14663144|PMID:14680548|PMID:14960772|PMID:14991359|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15574129|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16401743|PMID:16476939|PMID:16688595|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17297706|PMID:17353473|PMID:17620124|PMID:17646144|PMID:17714866|PMID:18254389|PMID:18379723|PMID:18380022|PMID:18380028|PMID:18636082|PMID:18717720|PMID:18846639|PMID:19062535|PMID:19259128|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20435583|PMID:20491857|PMID:20593665|PMID:20857133|PMID:20942588|PMID:21104867|PMID:21149811|PMID:21254193|PMID:21280457|PMID:21291455|PMID:21300330|PMID:21309765|PMID:21326314|PMID:21607969|PMID:21692908|PMID:21922480|PMID:22159091|PMID:22243284|PMID:22464564|PMID:224645664|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23011429|PMID:23106488|PMID:23209285|PMID:23232577|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23827825|PMID:23838279|PMID:23871722|PMID:24053775|PMID:24078732|PMID:24170412|PMID:24444136|PMID:24627108|PMID:24768312|PMID:24958582|PMID:25025039|PMID:25043634|PMID:25086786|PMID:25388846|PMID:25429913|PMID:25595958|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25883816|PMID:25947624|PMID:25969535|PMID:26392352|PMID:26454100|PMID:26467025|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27098783|PMID:27234031|PMID:27367520|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27812541|PMID:27844031|PMID:27862672|PMID:28071741|PMID:28283593|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:29095325|PMID:30373780|PMID:30737405|PMID:31211173|PMID:31673878|PMID:32010055|PMID:32399692|PMID:33105617|PMID:33136338|PMID:7477983|PMID:7580242|PMID:7833935|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8628473|PMID:8698335|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452025|PMID:9452099|PMID:9469569|PMID:9469571|PMID:9541114|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 12392169 GJB1 gap junction protein beta 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732555 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10234007|PMID:10487913|PMID:10521546|PMID:10586227|PMID:10586261|PMID:10586279|PMID:10586284|PMID:10586291|PMID:10587015|PMID:10639608|PMID:10646523|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10894999|PMID:10923043|PMID:10931843|PMID:10938190|PMID:11030070|PMID:11085599|PMID:11140841|PMID:11180613|PMID:11257785|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11545686|PMID:11562788|PMID:11571214|PMID:11723288|PMID:11835375|PMID:11891346|PMID:12111842|PMID:12185164|PMID:12207932|PMID:12325071|PMID:12362307|PMID:12402337|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12536289|PMID:12542510|PMID:12614935|PMID:12707076|PMID:14607795|PMID:14627639|PMID:14663027|PMID:14680548|PMID:14960772|PMID:14991359|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15574129|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16401743|PMID:16476939|PMID:16688595|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17297706|PMID:17353473|PMID:17620124|PMID:17714866|PMID:18254389|PMID:18379723|PMID:18380022|PMID:18380028|PMID:18636082|PMID:18717720|PMID:18846639|PMID:19062535|PMID:19259128|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20435583|PMID:20593665|PMID:20857133|PMID:20942588|PMID:21104867|PMID:21149811|PMID:21254193|PMID:21280457|PMID:21291455|PMID:21300330|PMID:21309765|PMID:21326314|PMID:21607969|PMID:21692908|PMID:21922480|PMID:22159091|PMID:22243284|PMID:22464564|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23011429|PMID:23106488|PMID:23209285|PMID:23232577|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23827825|PMID:23838279|PMID:23871722|PMID:24053775|PMID:24078732|PMID:24170412|PMID:24444136|PMID:24627108|PMID:24768312|PMID:24958582|PMID:25025039|PMID:25043634|PMID:25086786|PMID:25388846|PMID:25429913|PMID:25595958|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25947624|PMID:26392352|PMID:26454100|PMID:26467025|PMID:27025386|PMID:27027447|PMID:27098783|PMID:27367520|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27844031|PMID:28071741|PMID:28283593|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:29095325|PMID:30373780|PMID:31211173|PMID:31673878|PMID:32010055|PMID:32399692|PMID:33105617|PMID:33136338|PMID:7477983|PMID:7580242|PMID:7833935|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8628473|PMID:8698335|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452099|PMID:9469569|PMID:9469571|PMID:9541114|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 12392169 GJB1 gap junction protein beta 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732555 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10234007|PMID:10487913|PMID:10521546|PMID:10586227|PMID:10586261|PMID:10586279|PMID:10586284|PMID:10586291|PMID:10587015|PMID:10639608|PMID:10646523|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10894999|PMID:10923043|PMID:10931843|PMID:10938190|PMID:11030070|PMID:11085599|PMID:11140841|PMID:11180613|PMID:11257785|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11545686|PMID:11562788|PMID:11571214|PMID:11723288|PMID:11835375|PMID:11891346|PMID:12111842|PMID:12185164|PMID:12207932|PMID:12325071|PMID:12362307|PMID:12402337|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12536289|PMID:12542510|PMID:12614935|PMID:12707076|PMID:14607795|PMID:14627639|PMID:14663027|PMID:14680548|PMID:14960772|PMID:14991359|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15574129|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16401743|PMID:16476939|PMID:16688595|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17297706|PMID:17353473|PMID:17620124|PMID:17714866|PMID:18254389|PMID:18379723|PMID:18380022|PMID:18380028|PMID:18636082|PMID:18717720|PMID:18846639|PMID:19062535|PMID:19259128|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20301548|PMID:20435583|PMID:20593665|PMID:20857133|PMID:20942588|PMID:21104867|PMID:21149811|PMID:21254193|PMID:21280457|PMID:21291455|PMID:21300330|PMID:21309765|PMID:21326314|PMID:21607969|PMID:21692908|PMID:21922480|PMID:22159091|PMID:22243284|PMID:22464564|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23011429|PMID:23106488|PMID:23209285|PMID:23232577|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23827825|PMID:23838279|PMID:23871722|PMID:24053775|PMID:24078732|PMID:24170412|PMID:24444136|PMID:24627108|PMID:24768312|PMID:24958582|PMID:25025039|PMID:25043634|PMID:25086786|PMID:25388846|PMID:25429913|PMID:25595958|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25947624|PMID:26392352|PMID:26454100|PMID:26467025|PMID:27025386|PMID:27027447|PMID:27098783|PMID:27367520|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27844031|PMID:28071741|PMID:28283593|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:29095325|PMID:30373780|PMID:31211173|PMID:31673878|PMID:32010055|PMID:32399692|PMID:33105617|PMID:33136338|PMID:7477983|PMID:7580242|PMID:7833935|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8628473|PMID:8698335|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452099|PMID:9469569|PMID:9469571|PMID:9541114|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 12392169 GJB1 gap junction protein beta 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10234007|PMID:10400511|PMID:10487913|PMID:10521546|PMID:10586261|PMID:10586279|PMID:10586284|PMID:10586291|PMID:10587015|PMID:10639608|PMID:10646523|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10894999|PMID:10923043|PMID:10931843|PMID:10938190|PMID:11030070|PMID:11085599|PMID:11140841|PMID:11180613|PMID:11252295|PMID:11257785|PMID:11266688|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11545686|PMID:11562788|PMID:11571214|PMID:11723288|PMID:11835375|PMID:11891346|PMID:12111842|PMID:1211842|PMID:12185164|PMID:12207932|PMID:12325071|PMID:12362307|PMID:12402337|PMID:12457340|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12536289|PMID:12542510|PMID:12614935|PMID:12707076|PMID:14607795|PMID:14627639|PMID:14663027|PMID:14663144|PMID:14680548|PMID:14960772|PMID:14991359|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15574129|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16401743|PMID:16476939|PMID:16688595|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17297706|PMID:17353473|PMID:17620124|PMID:17646144|PMID:17714866|PMID:18254389|PMID:18379723|PMID:18380022|PMID:18380028|PMID:18636082|PMID:18714809|PMID:18717720|PMID:18846639|PMID:19062535|PMID:19259128|PMID:19297523|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19468074|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20301548|PMID:20491857|PMID:20593665|PMID:20730878|PMID:20857133|PMID:20942588|PMID:21104867|PMID:21149811|PMID:21254193|PMID:21280457|PMID:21282593|PMID:21291455|PMID:21300330|PMID:21309765|PMID:21326314|PMID:21607969|PMID:21692908|PMID:21922480|PMID:22243284|PMID:22464564|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23011429|PMID:23106488|PMID:23209285|PMID:23232577|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23827825|PMID:23838279|PMID:23871722|PMID:24053775|PMID:24078732|PMID:24170412|PMID:24444136|PMID:24627108|PMID:24768312|PMID:24958582|PMID:25025039|PMID:25043634|PMID:25086786|PMID:25388846|PMID:25429913|PMID:25595958|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25883816|PMID:25947624|PMID:25969535|PMID:26274329|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27098243|PMID:27098783|PMID:27228968|PMID:27234031|PMID:27367520|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27812541|PMID:27844031|PMID:27862672|PMID:28071741|PMID:28283593|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:29086968|PMID:29095325|PMID:29245364|PMID:29462293|PMID:29629536|PMID:29998508|PMID:30196252|PMID:30340945|PMID:30373780|PMID:30737405|PMID:31119804|PMID:31211173|PMID:31220874|PMID:31323543|PMID:31372974|PMID:31673878|PMID:31842800|PMID:32010055|PMID:32022442|PMID:32376792|PMID:32399692|PMID:32903794|PMID:33105617|PMID:33136338|PMID:33314704|PMID:34089394|PMID:7477983|PMID:7580242|PMID:7833935|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8304339|PMID:8628473|PMID:8698335|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452025|PMID:9452099|PMID:9469569|PMID:9469571|PMID:9541114|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 12392169 GJB1 gap junction protein beta 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732555 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10234007|PMID:10400511|PMID:10487913|PMID:10521546|PMID:10586261|PMID:10586279|PMID:10586284|PMID:10586291|PMID:10587015|PMID:10639608|PMID:10646523|PMID:10671058|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10894999|PMID:10923043|PMID:10931843|PMID:10938190|PMID:11030070|PMID:11085599|PMID:11140841|PMID:11180613|PMID:11252295|PMID:11257785|PMID:11266688|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11545686|PMID:11562788|PMID:11571214|PMID:11723288|PMID:11835375|PMID:11891346|PMID:12111842|PMID:1211842|PMID:12185164|PMID:12207932|PMID:12325071|PMID:12362307|PMID:12402337|PMID:12457340|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12536289|PMID:12542510|PMID:12614935|PMID:12707076|PMID:14607795|PMID:14627639|PMID:14663027|PMID:14663144|PMID:14680548|PMID:14960772|PMID:14991359|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15574129|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16401743|PMID:16476939|PMID:16688595|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17297706|PMID:17353473|PMID:17620124|PMID:17646144|PMID:17714866|PMID:18254389|PMID:18379723|PMID:18380022|PMID:18380028|PMID:18636082|PMID:18714809|PMID:18717720|PMID:18846639|PMID:19062535|PMID:19259128|PMID:19297523|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19468074|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20301548|PMID:20491857|PMID:20593665|PMID:20730878|PMID:20857133|PMID:20942588|PMID:21104867|PMID:21149811|PMID:21254193|PMID:21280457|PMID:21282593|PMID:21291455|PMID:21300330|PMID:21309765|PMID:21326314|PMID:21607969|PMID:21692908|PMID:21918739|PMID:21922480|PMID:22243284|PMID:22464564|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23011429|PMID:23106488|PMID:23209285|PMID:23232577|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23827825|PMID:23838279|PMID:23871722|PMID:24053775|PMID:24078732|PMID:24170412|PMID:24444136|PMID:24627108|PMID:24768312|PMID:24958582|PMID:25025039|PMID:25043634|PMID:25086786|PMID:25388846|PMID:25429913|PMID:25595958|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25883816|PMID:25947624|PMID:25969535|PMID:26274329|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27098243|PMID:27098783|PMID:27228968|PMID:27234031|PMID:27367520|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27812541|PMID:27844031|PMID:27862672|PMID:28071741|PMID:28283593|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:29086968|PMID:29095325|PMID:29245364|PMID:29462293|PMID:29629536|PMID:29998508|PMID:30196252|PMID:30340945|PMID:30373780|PMID:30737405|PMID:31119804|PMID:31211173|PMID:31220874|PMID:31323543|PMID:31372974|PMID:31673878|PMID:31827005|PMID:31842800|PMID:31920494|PMID:32010055|PMID:32022442|PMID:32376792|PMID:32399692|PMID:32903794|PMID:33105617|PMID:33136338|PMID:33314704|PMID:34089394|PMID:7477983|PMID:7580242|PMID:7833935|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8304339|PMID:8628473|PMID:8698335|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452025|PMID:9452099|PMID:9469569|PMID:9469571|PMID:9541114|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 12392169 GJB1 gap junction protein beta 1 gene DOID:11720 distal myopathy ISO RGD:732555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal muscle weakness PMID:25741868 12392169 GJB1 gap junction protein beta 1 gene DOID:12849 autistic disorder ISO RGD:732555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12392169 GJB1 gap junction protein beta 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:61926 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver: PMID:7762611|REF_RGD_ID:7349397 12392169 GJB1 gap junction protein beta 1 gene DOID:2491 sensory peripheral neuropathy ISO RGD:732555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensory neuropathy PMID:25741868 12392169 GJB1 gap junction protein beta 1 gene DOID:4450 renal cell carcinoma ISO RGD:732555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264126 12392169 GJB1 gap junction protein beta 1 gene DOID:574 peripheral nervous system disease ISO RGD:732555 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10923043|PMID:11571214|PMID:12497641|PMID:15006706|PMID:15241803|PMID:17100997|PMID:22243284|PMID:23106488|PMID:25025039|PMID:25741868|PMID:26454100|PMID:27025386|PMID:27027447|PMID:27234031|PMID:27844031|PMID:28492532|PMID:32022442|PMID:7580242|PMID:9187667 12392169 GJB1 gap junction protein beta 1 gene DOID:630 genetic disease ISO RGD:732555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10093067|PMID:10102421|PMID:10207904|PMID:10234007|PMID:10521546|PMID:10586261|PMID:10586279|PMID:10586291|PMID:10639608|PMID:10646523|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10923043|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11571214|PMID:11718056|PMID:11835375|PMID:12111842|PMID:1211842|PMID:12402337|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12542510|PMID:14627639|PMID:14663027|PMID:14706470|PMID:14960772|PMID:15006706|PMID:15241803|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16476939|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17353473|PMID:17646144|PMID:18254389|PMID:18379723|PMID:18636082|PMID:18714809|PMID:19062535|PMID:19193385|PMID:19259128|PMID:19297523|PMID:19369543|PMID:20039784|PMID:20128140|PMID:20301548|PMID:21149811|PMID:21254193|PMID:21291455|PMID:21309765|PMID:21692908|PMID:22243284|PMID:22464564|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23106488|PMID:23209285|PMID:23649551|PMID:23871722|PMID:24078732|PMID:25025039|PMID:25429913|PMID:25614874|PMID:25741868|PMID:26454100|PMID:26467025|PMID:26955336|PMID:27025386|PMID:27027447|PMID:27098783|PMID:27228968|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27844031|PMID:27862672|PMID:28071741|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:28797703|PMID:29077882|PMID:29095325|PMID:29245364|PMID:29462293|PMID:29629536|PMID:30340945|PMID:30373780|PMID:31211173|PMID:31220874|PMID:31323543|PMID:31372974|PMID:31842800|PMID:32010055|PMID:32022442|PMID:32376792|PMID:32399692|PMID:32903794|PMID:33136338|PMID:33314704|PMID:7477983|PMID:7580242|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8304339|PMID:8698335|PMID:8737658|PMID:8800924|PMID:8816997|PMID:9018031|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9469571|PMID:9592087|PMID:9600589|PMID:9633821 12392169 GJB1 gap junction protein beta 1 gene DOID:657 adenoma ISO RGD:732555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16926031 12392169 GJB1 gap junction protein beta 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17978847 12392169 GJB1 gap junction protein beta 1 gene DOID:7188 autoimmune thyroiditis ISO RGD:61926 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression, altered expression:thyroid gland: PMID:8770903|REF_RGD_ID:7349390 12392169 GJB1 gap junction protein beta 1 gene DOID:870 neuropathy ISO RGD:732555 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10923043|PMID:11571214|PMID:12497641|PMID:15006706|PMID:15241803|PMID:17100997|PMID:22243284|PMID:23106488|PMID:25025039|PMID:25741868|PMID:26454100|PMID:27025386|PMID:27027447|PMID:27234031|PMID:27844031|PMID:28492532|PMID:32022442|PMID:7580242|PMID:9187667 12392169 GJB1 gap junction protein beta 1 gene DOID:9000641 Pain ISO RGD:732555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pain PMID:16096811|PMID:21291455|PMID:22243284|PMID:25388846|PMID:25741868|PMID:26467025|PMID:28448691|PMID:28492532 12392169 GJB1 gap junction protein beta 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17978847 12392169 GJB1 gap junction protein beta 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:61926 D RGD:9068941 20200609 RGD PMID:1336494|REF_RGD_ID:7349398 12392169 GJB1 gap junction protein beta 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:732555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18308698 12392169 GJB1 gap junction protein beta 1 gene DOID:9004009 Reperfusion Injury ISO RGD:732555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25530438 12392169 GJB1 gap junction protein beta 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15492231|PMID:16926031 12392169 GJB1 gap junction protein beta 1 gene DOID:9007188 Liver Neoplasms ISO RGD:732555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2559087 12392169 GJB1 gap junction protein beta 1 gene DOID:9007898 FG Syndrome 1 ISO RGD:732555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 12392169 GJB1 gap junction protein beta 1 gene DOID:9008305 Talipes Cavus ISO RGD:732555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pes cavus PMID:25741868 12392169 GJB1 gap junction protein beta 1 gene DOID:9008681 Deafness treatment ISO RGD:62219 D RGD:9068941 20200609 RGD PMID:21813206|REF_RGD_ID:7364894 12392178 CYTH4 cytohesin 4 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1345777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12392178 CYTH4 cytohesin 4 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1345777 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12392178 CYTH4 cytohesin 4 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1345777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12392178 CYTH4 cytohesin 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1345777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12392178 CYTH4 cytohesin 4 gene DOID:630 genetic disease ISO RGD:1345777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392198 RAB44 RAB44, member RAS oncogene family gene DOID:0050553 JMP syndrome ISO RGD:1602152 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12392217 OR8U9 olfactory receptor family 8 subfamily U member 9 gene DOID:1059 intellectual disability ISO RGD:1353375 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12392217 OR8U9 olfactory receptor family 8 subfamily U member 9 gene DOID:630 genetic disease ISO RGD:1353375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392221 SDCBP2 syndecan binding protein 2 gene DOID:630 genetic disease ISO RGD:1317056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392238 LOXL4 lysyl oxidase like 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1318447 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12392238 LOXL4 lysyl oxidase like 4 gene DOID:11054 urinary bladder cancer ISO RGD:1318447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17456585 12392238 LOXL4 lysyl oxidase like 4 gene DOID:630 genetic disease ISO RGD:1318447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392263 LOC487740 trifunctional purine biosynthetic protein adenosine-3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1318653 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12392263 LOC487740 trifunctional purine biosynthetic protein adenosine-3 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1318653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12392263 LOC487740 trifunctional purine biosynthetic protein adenosine-3 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1318653 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12392263 LOC487740 trifunctional purine biosynthetic protein adenosine-3 gene DOID:14250 Down syndrome ISO RGD:1318653 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum (human) PMID:9328467|REF_RGD_ID:5143983 12392263 LOC487740 trifunctional purine biosynthetic protein adenosine-3 gene DOID:3910 lung adenocarcinoma ISO RGD:1318653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12392263 LOC487740 trifunctional purine biosynthetic protein adenosine-3 gene DOID:630 genetic disease ISO RGD:1318653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392263 LOC487740 trifunctional purine biosynthetic protein adenosine-3 gene DOID:7148 rheumatoid arthritis ISO RGD:1318653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 12392263 LOC487740 trifunctional purine biosynthetic protein adenosine-3 gene DOID:9005698 ZTTK Syndrome ISO RGD:1318653 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 12392263 LOC487740 trifunctional purine biosynthetic protein adenosine-3 gene DOID:9006205 Animal Disease Models ISO RGD:1318653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12392263 LOC487740 trifunctional purine biosynthetic protein adenosine-3 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1318653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 12392289 MFSD6L major facilitator superfamily domain containing 6 like gene DOID:630 genetic disease ISO RGD:1603890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392294 POU3F4 POU class 3 homeobox 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12392294 POU3F4 POU class 3 homeobox 4 gene DOID:0111737 X-linked deafness 2 ISO RGD:732459 D RGD:7240710 20180130 OMIM 12392294 POU3F4 POU class 3 homeobox 4 gene DOID:0111737 X-linked deafness 2 ISO RGD:732459 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, X-linked 2 | ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear PMID:1783396|PMID:19671658|PMID:19930154|PMID:23076972|PMID:23606368|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29287890|PMID:30176854|PMID:31690835|PMID:31786483|PMID:35802133|PMID:36633841|PMID:6662621|PMID:7581392|PMID:7839145|PMID:9298820 12392294 POU3F4 POU class 3 homeobox 4 gene DOID:12849 autistic disorder ISO RGD:732459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12392294 POU3F4 POU class 3 homeobox 4 gene DOID:3070 high grade glioma ISO RGD:732459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12392294 POU3F4 POU class 3 homeobox 4 gene DOID:630 genetic disease ISO RGD:732459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 12392294 POU3F4 POU class 3 homeobox 4 gene DOID:9008681 Deafness ISO RGD:732459 D RGD:9068941 20200609 RGD PMID:7839145|PMID:9298820|REF_RGD_ID:1599155|REF_RGD_ID:1599156 12392299 CCT5 chaperonin containing TCP1 subunit 5 gene DOID:0080600 COVID-19 ISO RGD:1354396 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12392299 CCT5 chaperonin containing TCP1 subunit 5 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1354396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28492532|PMID:28832565 12392299 CCT5 chaperonin containing TCP1 subunit 5 gene DOID:2477 motor peripheral neuropathy ISO RGD:1354396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensory Neuropathy with Spastic Paraplegia 12392299 CCT5 chaperonin containing TCP1 subunit 5 gene DOID:3910 lung adenocarcinoma ISO RGD:1354396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12392299 CCT5 chaperonin containing TCP1 subunit 5 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1354396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12392299 CCT5 chaperonin containing TCP1 subunit 5 gene DOID:630 genetic disease ISO RGD:1354396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12392299 CCT5 chaperonin containing TCP1 subunit 5 gene DOID:9000572 Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive ISO RGD:1354396 D RGD:7240710 20180130 OMIM 12392299 CCT5 chaperonin containing TCP1 subunit 5 gene DOID:9000572 Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive ISO RGD:1354396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive PMID:16399879|PMID:17576681|PMID:25124038|PMID:25345891|PMID:25741868|PMID:28492532|PMID:28623285|PMID:28832565|PMID:29552646|PMID:9536098 12392299 CCT5 chaperonin containing TCP1 subunit 5 gene DOID:9006205 Animal Disease Models ISO RGD:1354396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12392299 CCT5 chaperonin containing TCP1 subunit 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1354396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12392299 CCT5 chaperonin containing TCP1 subunit 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1354396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 12392314 ARRB2 arrestin beta 2 gene DOID:0050855 renal fibrosis ISO RGD:10192 D RGD:9068941 20200609 RGD associated with ureteral obstruction;mRNA, protein:increased expression:kidney PMID:28274926|REF_RGD_ID:13506828 12392314 ARRB2 arrestin beta 2 gene DOID:10762 portal hypertension ISO RGD:731570 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis;protein:increased expression:mesenteric artery PMID:24337852|REF_RGD_ID:13506901 12392314 ARRB2 arrestin beta 2 gene DOID:10762 portal hypertension treatment ISO RGD:2157 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis, Experimental PMID:24719556|REF_RGD_ID:13506899 12392314 ARRB2 arrestin beta 2 gene DOID:10763 hypertension ISO RGD:2157 D RGD:9068941 20200609 RGD protein:decreased expression:rostral ventrolateral medulla PMID:27861247|REF_RGD_ID:13506896 12392314 ARRB2 arrestin beta 2 gene DOID:630 genetic disease ISO RGD:731570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392314 ARRB2 arrestin beta 2 gene DOID:670 amphetamine abuse ISO RGD:731570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17233643 12392314 ARRB2 arrestin beta 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2157 D RGD:9068941 20220714 RGD PMID:33841550|REF_RGD_ID:152998960 12392314 ARRB2 arrestin beta 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12392314 ARRB2 arrestin beta 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2157 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (rat) PMID:21167192|REF_RGD_ID:5509890 12392314 ARRB2 arrestin beta 2 gene DOID:9002457 Experimental Arthritis ISO RGD:2157 D RGD:9068941 20200609 RGD protein:increased expression:knee, synoviocyte (rat) PMID:20965243|REF_RGD_ID:5509895 12392314 ARRB2 arrestin beta 2 gene DOID:9004283 Transplant Rejection ISO RGD:2157 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:blood, leukocyte, monocyte PMID:21193245|REF_RGD_ID:13506894 12392314 ARRB2 arrestin beta 2 gene DOID:9005605 Arteriovenous Fistula ISO RGD:2157 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:left ventricle (rat) PMID:22015551|REF_RGD_ID:5509867 12392314 ARRB2 arrestin beta 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2157 D RGD:9068941 20200609 RGD PMID:29016703|REF_RGD_ID:13506827 12392314 ARRB2 arrestin beta 2 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:2157 D RGD:9068941 20200609 RGD PMID:24337852|REF_RGD_ID:13506901 12392332 RGS17 regulator of G protein signaling 17 gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1313587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:28492532 12392332 RGS17 regulator of G protein signaling 17 gene DOID:630 genetic disease ISO RGD:1313587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392332 RGS17 regulator of G protein signaling 17 gene DOID:670 amphetamine abuse ISO RGD:1313587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12392376 SLC35C2 solute carrier family 35 member C2 gene DOID:2234 focal epilepsy ISO RGD:1322607 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12392376 SLC35C2 solute carrier family 35 member C2 gene DOID:630 genetic disease ISO RGD:1322607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392389 CSN1S1 casein alpha s1 gene DOID:630 genetic disease ISO RGD:1606842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392389 CSN1S1 casein alpha s1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1606842 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12392417 DNAJC4 DnaJ heat shock protein family (Hsp40) member C4 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1318614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12392417 DNAJC4 DnaJ heat shock protein family (Hsp40) member C4 gene DOID:1059 intellectual disability ISO RGD:1318614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12392417 DNAJC4 DnaJ heat shock protein family (Hsp40) member C4 gene DOID:3070 high grade glioma ISO RGD:1318614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12392417 DNAJC4 DnaJ heat shock protein family (Hsp40) member C4 gene DOID:630 genetic disease ISO RGD:1318614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392436 PPIL6 peptidylprolyl isomerase like 6 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1352974 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 12392436 PPIL6 peptidylprolyl isomerase like 6 gene DOID:630 genetic disease ISO RGD:1352974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392447 STPG1 sperm tail PG-rich repeat containing 1 gene DOID:630 genetic disease ISO RGD:1604766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392447 STPG1 sperm tail PG-rich repeat containing 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1604766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12392447 STPG1 sperm tail PG-rich repeat containing 1 gene DOID:9008934 Van der Woude Syndrome 2 ISO RGD:1604766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Van der Woude syndrome 2 PMID:25741868|PMID:28492532 12392472 MEIG1 meiosis/spermiogenesis associated 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1348116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12392472 MEIG1 meiosis/spermiogenesis associated 1 gene DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation ISO RGD:1348116 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency PMID:14744996|PMID:15071507|PMID:19912631|PMID:21664875|PMID:25741868|PMID:26123418|PMID:28492532 12392472 MEIG1 meiosis/spermiogenesis associated 1 gene DOID:630 genetic disease ISO RGD:1348116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392483 SEPTIN10 septin 10 gene DOID:0080600 COVID-19 ISO RGD:1606447 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12392483 SEPTIN10 septin 10 gene DOID:630 genetic disease ISO RGD:1606447 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392564 TREM2 triggering receptor expressed on myeloid cells 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1320401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12392564 TREM2 triggering receptor expressed on myeloid cells 2 gene DOID:0090112 Nasu-Hakola disease ISO RGD:1320401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 PMID:12080485|PMID:12754369|PMID:12883936|PMID:12925681|PMID:15883308|PMID:18546367|PMID:21834902|PMID:23150934|PMID:23318515|PMID:23399524|PMID:23582655|PMID:24899047|PMID:24990881|PMID:25615530|PMID:25741868|PMID:27995897|PMID:28492532|PMID:28559417|PMID:28768830|PMID:29142083|PMID:29557178 12392564 TREM2 triggering receptor expressed on myeloid cells 2 gene DOID:10652 Alzheimer's disease ISO RGD:1320401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24663666|PMID:28714976 12392564 TREM2 triggering receptor expressed on myeloid cells 2 gene DOID:1307 dementia ISO RGD:1320401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18546367 12392564 TREM2 triggering receptor expressed on myeloid cells 2 gene DOID:4166 syphilis ISO RGD:1320401 D RGD:9068941 20210625 RGD associated with age;protein:increased expression:CSF (human) PMID:32117023|REF_RGD_ID:127285386 12392564 TREM2 triggering receptor expressed on myeloid cells 2 gene DOID:630 genetic disease ISO RGD:1320401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25886450|PMID:27589997|PMID:28492532|PMID:28620717|PMID:32638105 12392564 TREM2 triggering receptor expressed on myeloid cells 2 gene DOID:9001414 Neurosyphilis disease_progression ISO RGD:1320401 D RGD:9068941 20210618 RGD protein:increased expression:CSF (human) PMID:32117023|REF_RGD_ID:127285386 12392564 TREM2 triggering receptor expressed on myeloid cells 2 gene DOID:9003895 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 ISO RGD:1320401 D RGD:7240710 20190315 OMIM 12392564 TREM2 triggering receptor expressed on myeloid cells 2 gene DOID:9003895 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 ISO RGD:1320401 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 PMID:12080485|PMID:12754369|PMID:12883936|PMID:12925681|PMID:15883308|PMID:19019460|PMID:21834902|PMID:23150934|PMID:23318515|PMID:23399524|PMID:23582655|PMID:24119542|PMID:24139279|PMID:24685331|PMID:24899047|PMID:25186855|PMID:25615530|PMID:25741868|PMID:25886450|PMID:27067662|PMID:27084067|PMID:27589997|PMID:27995897|PMID:28376694|PMID:28492532|PMID:28620717|PMID:28768830|PMID:29142083|PMID:29723869|PMID:31217084|PMID:32319261|PMID:32638105|PMID:6681564 12392564 TREM2 triggering receptor expressed on myeloid cells 2 gene DOID:905 Zellweger syndrome ISO RGD:1320401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12392564 TREM2 triggering receptor expressed on myeloid cells 2 gene DOID:9255 frontotemporal dementia ISO RGD:1320401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:23582655|PMID:24119542|PMID:25186855|PMID:25741868|PMID:28492532|PMID:29723869 12392574 SEC63 SEC63 homolog, protein translocation regulator gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1312738 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 12392574 SEC63 SEC63 homolog, protein translocation regulator gene DOID:0050770 polycystic liver disease ISO RGD:1312738 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:20095989|PMID:25741868 12392574 SEC63 SEC63 homolog, protein translocation regulator gene DOID:0060062 familial juvenile hyperuricemic nephropathy ISO RGD:1312738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant tubulointerstitial kidney disease 12392574 SEC63 SEC63 homolog, protein translocation regulator gene DOID:0080322 polycystic kidney disease ISO RGD:1312738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21685914 12392574 SEC63 SEC63 homolog, protein translocation regulator gene DOID:630 genetic disease ISO RGD:1312738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12392574 SEC63 SEC63 homolog, protein translocation regulator gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1312738 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Isolated polycystic liver disease | ClinVar Annotator: match by term: Polycystic liver disease 1 PMID:20095989|PMID:25741868|PMID:28492532 12392574 SEC63 SEC63 homolog, protein translocation regulator gene DOID:9006964 Polycystic Liver Disease 2 ISO RGD:1312738 D RGD:7240710 20190315 OMIM 12392574 SEC63 SEC63 homolog, protein translocation regulator gene DOID:9006964 Polycystic Liver Disease 2 ISO RGD:1312738 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic liver disease 2 PMID:15133510|PMID:17576681|PMID:20095989|PMID:24033266|PMID:25741868|PMID:28375157|PMID:28492532|PMID:9536098 12392587 ANKRD17 ankyrin repeat domain 17 gene DOID:1059 intellectual disability ISO RGD:1607057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:33909992 12392587 ANKRD17 ankyrin repeat domain 17 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1607057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:28580594 12392587 ANKRD17 ankyrin repeat domain 17 gene DOID:630 genetic disease ISO RGD:1607057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12392587 ANKRD17 ankyrin repeat domain 17 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1607057 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12392587 ANKRD17 ankyrin repeat domain 17 gene DOID:9002816 CHOPRA-AMIEL-GORDON SYNDROME ISO RGD:1607057 D RGD:7240710 20211020 OMIM 12392587 ANKRD17 ankyrin repeat domain 17 gene DOID:9002816 CHOPRA-AMIEL-GORDON SYNDROME ISO RGD:1607057 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chopra-Amiel-Gordon syndrome PMID:25741868|PMID:29758562|PMID:33909992 12392587 ANKRD17 ankyrin repeat domain 17 gene DOID:9005466 Language Development Disorders ISO RGD:1607057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Speech delay PMID:25741868 12392587 ANKRD17 ankyrin repeat domain 17 gene DOID:9007567 Ritscher-Schinzel Syndrome 4 ISO RGD:1607057 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 4 PMID:25741868 12392587 ANKRD17 ankyrin repeat domain 17 gene DOID:9266 cystinuria ISO RGD:1607057 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cystinuria PMID:25741868 12392638 RAD54L RAD54 like gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1321600 D RGD:7240710 20180130 OMIM 12392638 RAD54L RAD54 like gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1321600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:10362365 12392638 RAD54L RAD54 like gene DOID:0060252 sclerocornea ISO RGD:1321601 D RGD:9068941 20220825 MouseDO OMIM:181700 12392638 RAD54L RAD54 like gene DOID:14566 disease of cellular proliferation ISO RGD:1321600 D RGD:9068941 20200609 RGD PMID:10362365|REF_RGD_ID:1599748 12392638 RAD54L RAD54 like gene DOID:1612 breast cancer ISO RGD:1321600 D RGD:7240710 20180711 OMIM 12392638 RAD54L RAD54 like gene DOID:1793 pancreatic cancer ISO RGD:1321600 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs1048771 (human) PMID:16540687|REF_RGD_ID:2317365 12392638 RAD54L RAD54 like gene DOID:234 colon adenocarcinoma ISO RGD:1321600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma PMID:10362365 12392638 RAD54L RAD54 like gene DOID:3007 breast ductal carcinoma ISO RGD:1321600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma PMID:10362365 12392638 RAD54L RAD54 like gene DOID:5426 primary ovarian insufficiency ISO RGD:1321600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12392638 RAD54L RAD54 like gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12392638 RAD54L RAD54 like gene DOID:630 genetic disease ISO RGD:1321600 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12392638 RAD54L RAD54 like gene DOID:684 hepatocellular carcinoma ISO RGD:1321600 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12392638 RAD54L RAD54 like gene DOID:9008939 Breast Neoplasms ISO RGD:1321600 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12392638 RAD54L RAD54 like gene DOID:9008952 Breast Cancer, Familial ISO RGD:1321600 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 12392663 SEMA3C semaphorin 3C gene DOID:1826 epilepsy ISO RGD:1319638 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 12392663 SEMA3C semaphorin 3C gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12392663 SEMA3C semaphorin 3C gene DOID:630 genetic disease ISO RGD:1319638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392663 SEMA3C semaphorin 3C gene DOID:7148 rheumatoid arthritis ISO RGD:1319638 D RGD:9068941 20200609 RGD protein:increased expression:knee, synovium (human) PMID:15077297|REF_RGD_ID:1580084 12392663 SEMA3C semaphorin 3C gene DOID:9002189 High Myopia ISO RGD:1319638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12392663 SEMA3C semaphorin 3C gene DOID:9003752 Persistent Truncus Arteriosus ISO RGD:1319638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15548583 12392684 TPX2 TPX2 microtubule nucleation factor gene DOID:0080600 COVID-19 ISO RGD:1323589 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12392684 TPX2 TPX2 microtubule nucleation factor gene DOID:630 genetic disease ISO RGD:1323589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392684 TPX2 TPX2 microtubule nucleation factor gene DOID:684 hepatocellular carcinoma ISO RGD:1323589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12392719 CLXN calaxin gene DOID:0111961 immunodeficiency 26 ISO RGD:1603006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency PMID:28492532 12392719 CLXN calaxin gene DOID:630 genetic disease ISO RGD:1603006 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392738 IFI6 interferon alpha inducible protein 6 gene DOID:1470 major depressive disorder ISO RGD:1342870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29175309 12392738 IFI6 interferon alpha inducible protein 6 gene DOID:630 genetic disease ISO RGD:1342870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392738 IFI6 interferon alpha inducible protein 6 gene DOID:9001488 Human Influenza ISO RGD:1342870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12392738 IFI6 interferon alpha inducible protein 6 gene DOID:9003281 Spontaneous Abortions ISO RGD:1342870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12392747 MPRIP myosin phosphatase Rho interacting protein gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:736941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 12392747 MPRIP myosin phosphatase Rho interacting protein gene DOID:0050777 Joubert syndrome ISO RGD:736941 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12392747 MPRIP myosin phosphatase Rho interacting protein gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:736941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12392747 MPRIP myosin phosphatase Rho interacting protein gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:736941 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12392747 MPRIP myosin phosphatase Rho interacting protein gene DOID:12849 autistic disorder ISO RGD:736941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12392747 MPRIP myosin phosphatase Rho interacting protein gene DOID:630 genetic disease ISO RGD:736941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392747 MPRIP myosin phosphatase Rho interacting protein gene DOID:9004657 Weight Gain ISO RGD:736941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12392775 SYNRG synergin gamma gene DOID:0060041 autism spectrum disorder ISO RGD:1348030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 12392775 SYNRG synergin gamma gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1348030 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 12392775 SYNRG synergin gamma gene DOID:12849 autistic disorder ISO RGD:1348030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12392775 SYNRG synergin gamma gene DOID:5419 schizophrenia ISO RGD:1348030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12392775 SYNRG synergin gamma gene DOID:630 genetic disease ISO RGD:1348030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392775 SYNRG synergin gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348030 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12392775 SYNRG synergin gamma gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12392775 SYNRG synergin gamma gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1348030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 12392821 CRIP3 cysteine rich protein 3 gene DOID:0050444 infantile Refsum disease ISO RGD:1343897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12392821 CRIP3 cysteine rich protein 3 gene DOID:630 genetic disease ISO RGD:1343897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392821 CRIP3 cysteine rich protein 3 gene DOID:905 Zellweger syndrome ISO RGD:1343897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12392841 TTK TTK protein kinase gene DOID:0080600 COVID-19 ISO RGD:1313655 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12392841 TTK TTK protein kinase gene DOID:11612 polycystic ovary syndrome ISO RGD:1313655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12392841 TTK TTK protein kinase gene DOID:630 genetic disease ISO RGD:1313655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392841 TTK TTK protein kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1313655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12392841 TTK TTK protein kinase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1313655 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 12392841 TTK TTK protein kinase gene DOID:9003100 Pancreatic Neoplasms ISO RGD:1313655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic neoplasm PMID:20581473 12392841 TTK TTK protein kinase gene DOID:9269 maple syrup urine disease ISO RGD:1313655 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:16786533|PMID:22593002|PMID:24571530|PMID:28492532 12392869 IKBIP IKBKB interacting protein gene DOID:630 genetic disease ISO RGD:1605589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392881 RAB37 RAB37, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1312361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392907 GRM7 glutamate metabotropic receptor 7 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1603058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138692 12392907 GRM7 glutamate metabotropic receptor 7 gene DOID:1826 epilepsy ISO RGD:1603058 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12392907 GRM7 glutamate metabotropic receptor 7 gene DOID:303 substance-related disorder ISO RGD:1603058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12392907 GRM7 glutamate metabotropic receptor 7 gene DOID:630 genetic disease ISO RGD:1603058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12392907 GRM7 glutamate metabotropic receptor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12392907 GRM7 glutamate metabotropic receptor 7 gene DOID:9005055 NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES ISO RGD:1603058 D RGD:7240710 20201111 OMIM 12392907 GRM7 glutamate metabotropic receptor 7 gene DOID:9005055 NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES ISO RGD:1603058 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities PMID:25741868|PMID:27435318|PMID:28097321|PMID:28492532|PMID:32286009 12392907 GRM7 glutamate metabotropic receptor 7 gene DOID:9008086 Developmental Disabilities ISO RGD:1603058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:27435318|PMID:32286009 12392907 GRM7 glutamate metabotropic receptor 7 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1603058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12392933 ATXN7 ataxin 7 gene DOID:0050958 spinocerebellar ataxia type 7 ISO RGD:1350255 D RGD:7240710 20180425 OMIM 12392933 ATXN7 ataxin 7 gene DOID:0050958 spinocerebellar ataxia type 7 ISO RGD:1350255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 7 PMID:25741868 12392933 ATXN7 ataxin 7 gene DOID:37 skin disease ISO RGD:1350255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12392933 ATXN7 ataxin 7 gene DOID:480 movement disease ISO RGD:1350255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25664129 12392933 ATXN7 ataxin 7 gene DOID:630 genetic disease ISO RGD:1350255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392933 ATXN7 ataxin 7 gene DOID:9000343 Vision Disorders ISO RGD:1350255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25664129 12392933 ATXN7 ataxin 7 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1350255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25664129 12392933 ATXN7 ataxin 7 gene DOID:9002563 Gait Ataxia ISO RGD:1350255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25664129 12392933 ATXN7 ataxin 7 gene DOID:9005219 Abnormal Reflexes ISO RGD:1350255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25664129 12392933 ATXN7 ataxin 7 gene DOID:9007964 Arsenic Poisoning ISO RGD:1350255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12392966 KCNH8 potassium voltage-gated channel subfamily H member 8 gene DOID:0060417 3p deletion syndrome ISO RGD:1352658 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 12392966 KCNH8 potassium voltage-gated channel subfamily H member 8 gene DOID:0111444 progressive myoclonus epilepsy 4 ISO RGD:1352658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome PMID:25741868 12392966 KCNH8 potassium voltage-gated channel subfamily H member 8 gene DOID:630 genetic disease ISO RGD:1352658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392986 YTHDF1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12392986 YTHDF1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1318986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12392986 YTHDF1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1318986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12392986 YTHDF1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1318986 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12392986 YTHDF1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12392986 YTHDF1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1318986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12392986 YTHDF1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:630 genetic disease ISO RGD:1318986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12392986 YTHDF1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1318986 D RGD:9068941 20220908 RGD human cells in mouse model PMID:34974791|REF_RGD_ID:153344629 12392986 YTHDF1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:9538 multiple myeloma ISO RGD:1318986 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038059 12392994 JPH1 junctophilin 1 gene DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ISO RGD:1318763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 PMID:28492532 12392994 JPH1 junctophilin 1 gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1318763 D RGD:7240710 20180130 OMIM 12392994 JPH1 junctophilin 1 gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1318763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K PMID:15805163|PMID:20685671|PMID:21681106|PMID:25168384 12392994 JPH1 junctophilin 1 gene DOID:0110185 Charcot-Marie-Tooth disease type 4A ISO RGD:1318763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A PMID:28492532 12392994 JPH1 junctophilin 1 gene DOID:630 genetic disease ISO RGD:1318763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393010 RCAN3 RCAN family member 3 gene DOID:630 genetic disease ISO RGD:1323485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393044 ZNF654 zinc finger protein 654 gene DOID:630 genetic disease ISO RGD:1345360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393059 PKLR pyruvate kinase L/R gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:737364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12393059 PKLR pyruvate kinase L/R gene DOID:0111077 pyruvate kinase deficiency of red cells IAGP D RGD:12801476 20210603 OMIA Pyruvate kinase deficiency of erythrocyte PMID:1141034|PMID:5812576|PMID:2071475|PMID:1510326|PMID:7520391|PMID:7559024|PMID:10490091|PMID:4251418|PMID:14652850|PMID:22805166|PMID:16783707|PMID:23028826 12393059 PKLR pyruvate kinase L/R gene DOID:0111077 pyruvate kinase deficiency of red cells ISO RGD:737364 D RGD:7240710 20180130 OMIM 12393059 PKLR pyruvate kinase L/R gene DOID:0111077 pyruvate kinase deficiency of red cells ISO RGD:737364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells PMID:10354117|PMID:10828047|PMID:11054094|PMID:11328279|PMID:11698298|PMID:11960989|PMID:12393511|PMID:14014643|PMID:14255553|PMID:1536957|PMID:15491302|PMID:15953013|PMID:15982340|PMID:16704447|PMID:1670447|PMID:17360088|PMID:17574881|PMID:17576681|PMID:18172691|PMID:18420493|PMID:18683378|PMID:18759866|PMID:1896471|PMID:19085939|PMID:1937486|PMID:19758413|PMID:2018831|PMID:21815188|PMID:21833022|PMID:23082140|PMID:24033266|PMID:25741868|PMID:26087744|PMID:26459649|PMID:26658699|PMID:26728349|PMID:26832193|PMID:27346685|PMID:27354418|PMID:27871768|PMID:28133914|PMID:28492532|PMID:29396846|PMID:29519373|PMID:30332465|PMID:32043619|PMID:32974842|PMID:34008892|PMID:7655861|PMID:7702630|PMID:7706479|PMID:7919353|PMID:7948315|PMID:8161798|PMID:8180378|PMID:8483951|PMID:9057665|PMID:9166866|PMID:9389718|PMID:9482576|PMID:9536098|PMID:9657767|PMID:9827908|PMID:9886305 12393059 PKLR pyruvate kinase L/R gene DOID:0111940 immunodeficiency 42 ISO RGD:737364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12393059 PKLR pyruvate kinase L/R gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:737364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12393059 PKLR pyruvate kinase L/R gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:737364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12393059 PKLR pyruvate kinase L/R gene DOID:12365 malaria ISO RGD:11113 D RGD:9068941 20220825 MouseDO OMIM:609148 | OMIM:611162 12393059 PKLR pyruvate kinase L/R gene DOID:12365 malaria susceptibility ISO RGD:11113 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.I90N (mouse) PMID:14595440|REF_RGD_ID:11537407 12393059 PKLR pyruvate kinase L/R gene DOID:12365 malaria susceptibility ISO RGD:737364 D RGD:9068941 20200609 RGD DNA:mutations, haplotype:multiple (human) PMID:20377593|REF_RGD_ID:11535999 12393059 PKLR pyruvate kinase L/R gene DOID:1540 parathyroid carcinoma ISO RGD:737364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12393059 PKLR pyruvate kinase L/R gene DOID:1926 Gaucher's disease ISO RGD:737364 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS11+?(ATT)5 (human) PMID:9677056|REF_RGD_ID:11535995 12393059 PKLR pyruvate kinase L/R gene DOID:2018 hyperinsulinism ISO RGD:11113 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:14766002|REF_RGD_ID:1625581 12393059 PKLR pyruvate kinase L/R gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:737364 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R479H (human) PMID:8161798|REF_RGD_ID:11535983 12393059 PKLR pyruvate kinase L/R gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:737364 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.A468V, p.I314T (human) PMID:7949104|REF_RGD_ID:11535979 12393059 PKLR pyruvate kinase L/R gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:737364 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.T384M, p.Q421K (human) PMID:1536957|REF_RGD_ID:11535981 12393059 PKLR pyruvate kinase L/R gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:737364 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-72A>G (human) PMID:11054094|REF_RGD_ID:11535987 12393059 PKLR pyruvate kinase L/R gene DOID:4195 hyperglycemia ISO RGD:3336 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;mRNA, protein:increased expression:liver PMID:8605225|REF_RGD_ID:1625587 12393059 PKLR pyruvate kinase L/R gene DOID:5812 MHC class II deficiency ISO RGD:737364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12393059 PKLR pyruvate kinase L/R gene DOID:583 hemolytic anemia ISO RGD:737364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:28492532|PMID:32581362|PMID:9827908 12393059 PKLR pyruvate kinase L/R gene DOID:630 genetic disease ISO RGD:737364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12393059 PKLR pyruvate kinase L/R gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737364 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12393059 PKLR pyruvate kinase L/R gene DOID:9002812 Elevated Adenosine Triphosphate of Erythrocytes ISO RGD:737364 D RGD:7240710 20180130 OMIM 12393059 PKLR pyruvate kinase L/R gene DOID:9002812 Elevated Adenosine Triphosphate of Erythrocytes ISO RGD:737364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate kinase hyperactivity PMID:10354117|PMID:10828047|PMID:11054094|PMID:11328279|PMID:11960989|PMID:15953013|PMID:15982340|PMID:16704447|PMID:17360088|PMID:17574881|PMID:18759866|PMID:24033266|PMID:25741868|PMID:26087744|PMID:26459649|PMID:26658699|PMID:26728349|PMID:26832193|PMID:27346685|PMID:27354418|PMID:27871768|PMID:28133914|PMID:28492532|PMID:29519373|PMID:30332465|PMID:32974842|PMID:4160306|PMID:7655861|PMID:7706479|PMID:7919353|PMID:7948315|PMID:8483951|PMID:8664896|PMID:9057665|PMID:9482576|PMID:9657767|PMID:9827908 12393059 PKLR pyruvate kinase L/R gene DOID:9004009 Reperfusion Injury ISO RGD:3336 D RGD:9068941 20200609 RGD PMID:17013507|REF_RGD_ID:1625588 12393059 PKLR pyruvate kinase L/R gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3336 D RGD:9068941 20200609 RGD PMID:16900249|REF_RGD_ID:1625589 12393059 PKLR pyruvate kinase L/R gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737364 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20363216 12393059 PKLR pyruvate kinase L/R gene DOID:9007692 Insulin Resistance ISO RGD:11113 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:12958186|REF_RGD_ID:1625583 12393059 PKLR pyruvate kinase L/R gene DOID:9007730 Burns ISO RGD:3336 D RGD:9068941 20200609 RGD PMID:12417155|REF_RGD_ID:1625591 12393059 PKLR pyruvate kinase L/R gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12393059 PKLR pyruvate kinase L/R gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737364 D RGD:9068941 20200609 RGD DNA:SNP: :rs3020781(human) PMID:19111066|REF_RGD_ID:13506802 12393059 PKLR pyruvate kinase L/R gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737364 D RGD:9068941 20200609 RGD DNA:SNPs:introns,exons: PMID:12196482|REF_RGD_ID:13506801 12393059 PKLR pyruvate kinase L/R gene DOID:9970 obesity ISO RGD:11113 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:12958186|REF_RGD_ID:1625583 12393086 C28H10orf53 chromosome 28 C10orf53 homolog gene DOID:11372 megacolon ISO RGD:1345709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12393086 C28H10orf53 chromosome 28 C10orf53 homolog gene DOID:5419 schizophrenia ISO RGD:1345709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12393086 C28H10orf53 chromosome 28 C10orf53 homolog gene DOID:630 genetic disease ISO RGD:1345709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393096 PRELID2 PRELI domain containing 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606141 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12393096 PRELID2 PRELI domain containing 2 gene DOID:630 genetic disease ISO RGD:1606141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393096 PRELID2 PRELI domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12393096 PRELID2 PRELI domain containing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12393096 PRELID2 PRELI domain containing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606141 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12393132 MSRA methionine sulfoxide reductase A gene DOID:12849 autistic disorder ISO RGD:737220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12393132 MSRA methionine sulfoxide reductase A gene DOID:303 substance-related disorder ISO RGD:737220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12393132 MSRA methionine sulfoxide reductase A gene DOID:5419 schizophrenia ISO RGD:737220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12393132 MSRA methionine sulfoxide reductase A gene DOID:630 genetic disease ISO RGD:737220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393132 MSRA methionine sulfoxide reductase A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12393162 TMEM140 transmembrane protein 140 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12393162 TMEM140 transmembrane protein 140 gene DOID:630 genetic disease ISO RGD:1605364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393183 HOXB9 homeobox B9 gene DOID:630 genetic disease ISO RGD:1314613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393183 HOXB9 homeobox B9 gene DOID:9000647 Acute Erythroleukemia ISO RGD:1314613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 12393183 HOXB9 homeobox B9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27182052 12393183 HOXB9 homeobox B9 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1314613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27182052 12393183 HOXB9 homeobox B9 gene DOID:9004268 Uterine Neoplasms ISO RGD:1314613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27182052 12393183 HOXB9 homeobox B9 gene DOID:9008939 Breast Neoplasms ISO RGD:1314613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27182052 12393189 TRIM65 tripartite motif containing 65 gene DOID:630 genetic disease ISO RGD:1352380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393216 MOB3A MOB kinase activator 3A gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1317819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12393216 MOB3A MOB kinase activator 3A gene DOID:5339 cyclic hematopoiesis ISO RGD:1317819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12393216 MOB3A MOB kinase activator 3A gene DOID:630 genetic disease ISO RGD:1317819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393216 MOB3A MOB kinase activator 3A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12393216 MOB3A MOB kinase activator 3A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12393224 NUDT11 nudix hydrolase 11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12393224 NUDT11 nudix hydrolase 11 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1343668 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 12393224 NUDT11 nudix hydrolase 11 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1343668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12393224 NUDT11 nudix hydrolase 11 gene DOID:12849 autistic disorder ISO RGD:1343668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12393224 NUDT11 nudix hydrolase 11 gene DOID:630 genetic disease ISO RGD:1343668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393236 PIM3 Pim-3 proto-oncogene, serine/threonine kinase gene DOID:0060041 autism spectrum disorder ISO RGD:1344275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12393236 PIM3 Pim-3 proto-oncogene, serine/threonine kinase gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1344275 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12393236 PIM3 Pim-3 proto-oncogene, serine/threonine kinase gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1344275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12393236 PIM3 Pim-3 proto-oncogene, serine/threonine kinase gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1344275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12393236 PIM3 Pim-3 proto-oncogene, serine/threonine kinase gene DOID:10581 metachromatic leukodystrophy ISO RGD:1344275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12393236 PIM3 Pim-3 proto-oncogene, serine/threonine kinase gene DOID:1059 intellectual disability ISO RGD:1344275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12393236 PIM3 Pim-3 proto-oncogene, serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1344275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393238 OR5K8 olfactory receptor family 5 subfamily K member 8 gene DOID:4990 essential tremor ISO RGD:1347767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 12393238 OR5K8 olfactory receptor family 5 subfamily K member 8 gene DOID:630 genetic disease ISO RGD:1347767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393239 CNIH2 cornichon family AMPA receptor auxiliary protein 2 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1352659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 12393239 CNIH2 cornichon family AMPA receptor auxiliary protein 2 gene DOID:1059 intellectual disability ISO RGD:1352659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12393239 CNIH2 cornichon family AMPA receptor auxiliary protein 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12393239 CNIH2 cornichon family AMPA receptor auxiliary protein 2 gene DOID:2746 glycogen storage disease V ISO RGD:1352659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12393239 CNIH2 cornichon family AMPA receptor auxiliary protein 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1352659 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12393239 CNIH2 cornichon family AMPA receptor auxiliary protein 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1352659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12393255 MZB1 marginal zone B and B1 cell specific protein gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1605681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12393255 MZB1 marginal zone B and B1 cell specific protein gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605681 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12393255 MZB1 marginal zone B and B1 cell specific protein gene DOID:0080600 COVID-19 ISO RGD:1605681 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12393255 MZB1 marginal zone B and B1 cell specific protein gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1605681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12393255 MZB1 marginal zone B and B1 cell specific protein gene DOID:630 genetic disease ISO RGD:1605681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393255 MZB1 marginal zone B and B1 cell specific protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12393255 MZB1 marginal zone B and B1 cell specific protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605681 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12393287 C3H4orf19 chromosome 3 C4orf19 homolog gene DOID:13580 cholestasis ISO RGD:1602474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12393367 PLK2 polo like kinase 2 gene DOID:10485 esophageal atresia ISO RGD:1348089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12393367 PLK2 polo like kinase 2 gene DOID:305 carcinoma ISO RGD:1348089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12393367 PLK2 polo like kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12393367 PLK2 polo like kinase 2 gene DOID:630 genetic disease ISO RGD:1348089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393367 PLK2 polo like kinase 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1348089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12393367 PLK2 polo like kinase 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1348089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12393367 PLK2 polo like kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12393367 PLK2 polo like kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1348089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12393367 PLK2 polo like kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:620760 D RGD:9068941 20220331 RGD mRNA, protein:increased expression:mammary gland (rat) PMID:12376462|REF_RGD_ID:2292404 12393367 PLK2 polo like kinase 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1348089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12897130 12393385 GOLIM4 golgi integral membrane protein 4 gene DOID:630 genetic disease ISO RGD:1322138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393411 AP3M2 adaptor related protein complex 3 subunit mu 2 gene DOID:0090039 torsion dystonia 6 ISO RGD:735940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 12393411 AP3M2 adaptor related protein complex 3 subunit mu 2 gene DOID:0111959 immunodeficiency 15B ISO RGD:735940 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 12393411 AP3M2 adaptor related protein complex 3 subunit mu 2 gene DOID:630 genetic disease ISO RGD:735940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393411 AP3M2 adaptor related protein complex 3 subunit mu 2 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:735940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 12393429 KLF9 KLF transcription factor 9 gene DOID:289 endometriosis ISO RGD:1350312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12393429 KLF9 KLF transcription factor 9 gene DOID:50 thyroid gland disease ISO RGD:1350312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 12393429 KLF9 KLF transcription factor 9 gene DOID:630 genetic disease ISO RGD:1350312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393429 KLF9 KLF transcription factor 9 gene DOID:9007633 Body Weight ISO RGD:1350312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344221 12393429 KLF9 KLF transcription factor 9 gene DOID:9775 diastolic heart failure ISO RGD:1350312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12393434 POLRMT RNA polymerase mitochondrial gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1312131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 12393434 POLRMT RNA polymerase mitochondrial gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:1312131 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:25741868 12393434 POLRMT RNA polymerase mitochondrial gene DOID:2843 long QT syndrome ISO RGD:1312131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12393434 POLRMT RNA polymerase mitochondrial gene DOID:5339 cyclic hematopoiesis ISO RGD:1312131 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12393434 POLRMT RNA polymerase mitochondrial gene DOID:630 genetic disease ISO RGD:1312131 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12393434 POLRMT RNA polymerase mitochondrial gene DOID:9001375 Combined Oxidative Phosphorylation Deficiency 55 ISO RGD:1312131 D RGD:7240710 20220223 OMIM 12393434 POLRMT RNA polymerase mitochondrial gene DOID:9001375 Combined Oxidative Phosphorylation Deficiency 55 ISO RGD:1312131 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 55 PMID:25741868|PMID:28492532|PMID:33602924 12393459 TMEM126B transmembrane protein 126B gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1603632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 12393459 TMEM126B transmembrane protein 126B gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1603632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 12393459 TMEM126B transmembrane protein 126B gene DOID:0112084 nuclear type mitochondrial complex I deficiency 29 ISO RGD:1603632 D RGD:7240710 20190315 OMIM 12393459 TMEM126B transmembrane protein 126B gene DOID:0112084 nuclear type mitochondrial complex I deficiency 29 ISO RGD:1603632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 PMID:25741868|PMID:27290639|PMID:27374773|PMID:27374774|PMID:28492532|PMID:29093663|PMID:30369941|PMID:31658717 12393459 TMEM126B transmembrane protein 126B gene DOID:1059 intellectual disability ISO RGD:1603632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12393459 TMEM126B transmembrane protein 126B gene DOID:630 genetic disease ISO RGD:1603632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12393459 TMEM126B transmembrane protein 126B gene DOID:700 mitochondrial metabolism disease ISO RGD:1603632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25741868|PMID:27290639|PMID:27374773|PMID:27374774|PMID:28492532|PMID:29093663|PMID:30369941|PMID:31658717 12393468 LARP6 La ribonucleoprotein 6, translational regulator gene DOID:2717 Bloom syndrome ISO RGD:1605069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12393468 LARP6 La ribonucleoprotein 6, translational regulator gene DOID:630 genetic disease ISO RGD:1605069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393468 LARP6 La ribonucleoprotein 6, translational regulator gene DOID:9256 colorectal cancer ISO RGD:1605069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12393478 MMEL1 membrane metalloendopeptidase like 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12393478 MMEL1 membrane metalloendopeptidase like 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12393478 MMEL1 membrane metalloendopeptidase like 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1603610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12393478 MMEL1 membrane metalloendopeptidase like 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1603610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12393478 MMEL1 membrane metalloendopeptidase like 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12393478 MMEL1 membrane metalloendopeptidase like 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:1603610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12393478 MMEL1 membrane metalloendopeptidase like 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:1603610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12393478 MMEL1 membrane metalloendopeptidase like 1 gene DOID:12236 primary biliary cholangitis ISO RGD:1603610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20639879 12393478 MMEL1 membrane metalloendopeptidase like 1 gene DOID:630 genetic disease ISO RGD:1603610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393478 MMEL1 membrane metalloendopeptidase like 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1603610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 12393478 MMEL1 membrane metalloendopeptidase like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12393478 MMEL1 membrane metalloendopeptidase like 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1603610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12393478 MMEL1 membrane metalloendopeptidase like 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12393506 PDZD9 PDZ domain containing 9 gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:1604496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5 PMID:23281071|PMID:25741868|PMID:28275242|PMID:28492532 12393506 PDZD9 PDZ domain containing 9 gene DOID:12849 autistic disorder ISO RGD:1604496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12393506 PDZD9 PDZ domain containing 9 gene DOID:5419 schizophrenia ISO RGD:1604496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12393506 PDZD9 PDZ domain containing 9 gene DOID:630 genetic disease ISO RGD:1604496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393517 DNTTIP2 deoxynucleotidyltransferase terminal interacting protein 2 gene DOID:630 genetic disease ISO RGD:1604625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393528 RAP1GAP2 RAP1 GTPase activating protein 2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1346377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:25741868 12393528 RAP1GAP2 RAP1 GTPase activating protein 2 gene DOID:630 genetic disease ISO RGD:1346377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393558 MROH5 maestro heat like repeat family member 5 gene DOID:630 genetic disease ISO RGD:1602032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393596 UQCRC1 ubiquinol-cytochrome c reductase core protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:1342599 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:26943237|REF_RGD_ID:11572212 12393596 UQCRC1 ubiquinol-cytochrome c reductase core protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:1342599 D RGD:9068941 20200609 RGD protein:decreased expression:temporal cortex PMID:11130185|REF_RGD_ID:13831335 12393596 UQCRC1 ubiquinol-cytochrome c reductase core protein 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1342599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12393596 UQCRC1 ubiquinol-cytochrome c reductase core protein 1 gene DOID:630 genetic disease ISO RGD:1342599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393596 UQCRC1 ubiquinol-cytochrome c reductase core protein 1 gene DOID:9000233 PARKINSONISM WITH POLYNEUROPATHY ISO RGD:1342599 D RGD:7240710 20210519 OMIM 12393596 UQCRC1 ubiquinol-cytochrome c reductase core protein 1 gene DOID:9000233 PARKINSONISM WITH POLYNEUROPATHY ISO RGD:1342599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism with polyneuropathy PMID:25741868|PMID:33141179 12393596 UQCRC1 ubiquinol-cytochrome c reductase core protein 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1342599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12393596 UQCRC1 ubiquinol-cytochrome c reductase core protein 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1342599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12393627 RAPGEF6 Rap guanine nucleotide exchange factor 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1316955 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12393627 RAPGEF6 Rap guanine nucleotide exchange factor 6 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1316955 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 12393627 RAPGEF6 Rap guanine nucleotide exchange factor 6 gene DOID:5419 schizophrenia ISO RGD:1316955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12393627 RAPGEF6 Rap guanine nucleotide exchange factor 6 gene DOID:630 genetic disease ISO RGD:1316955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393627 RAPGEF6 Rap guanine nucleotide exchange factor 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12393627 RAPGEF6 Rap guanine nucleotide exchange factor 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316955 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12393683 DTNBP1 dystrobrevin binding protein 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1342501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 12393683 DTNBP1 dystrobrevin binding protein 1 gene DOID:0060545 Hermansky-Pudlak syndrome 7 ISO RGD:1342501 D RGD:7240710 20180130 OMIM 12393683 DTNBP1 dystrobrevin binding protein 1 gene DOID:0060545 Hermansky-Pudlak syndrome 7 ISO RGD:1342501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 7 PMID:12923531|PMID:23364359|PMID:25741868|PMID:28259707|PMID:28492532|PMID:30990103 12393683 DTNBP1 dystrobrevin binding protein 1 gene DOID:150 disease of mental health ISO RGD:1342501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25298178 12393683 DTNBP1 dystrobrevin binding protein 1 gene DOID:2223 platelet storage pool deficiency ISO RGD:1619063 D RGD:9068941 20220825 MouseDO OMIM:185050 12393683 DTNBP1 dystrobrevin binding protein 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:1342501 D RGD:9068941 20200609 RGD protein:increased expression:temporal cortex PMID:22337344|REF_RGD_ID:11251761 12393683 DTNBP1 dystrobrevin binding protein 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:1590759 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, hippocampus PMID:22337344|REF_RGD_ID:11251761 12393683 DTNBP1 dystrobrevin binding protein 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1342501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:24033266|PMID:28492532 12393683 DTNBP1 dystrobrevin binding protein 1 gene DOID:5419 schizophrenia ISO RGD:1342501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 12393683 DTNBP1 dystrobrevin binding protein 1 gene DOID:5419 schizophrenia ISO RGD:1342501 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:intron, promoter:multiple PMID:15345706|REF_RGD_ID:11251758 12393683 DTNBP1 dystrobrevin binding protein 1 gene DOID:5419 schizophrenia ISO RGD:1342501 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:12474144|REF_RGD_ID:1358610 12393683 DTNBP1 dystrobrevin binding protein 1 gene DOID:5419 schizophrenia ISO RGD:1619063 D RGD:9068941 20220825 MouseDO OMIM:181500 12393683 DTNBP1 dystrobrevin binding protein 1 gene DOID:630 genetic disease ISO RGD:1342501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12393699 RPS6KB2 ribosomal protein S6 kinase B2 gene DOID:1059 intellectual disability ISO RGD:1313003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12393699 RPS6KB2 ribosomal protein S6 kinase B2 gene DOID:630 genetic disease ISO RGD:1313003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393699 RPS6KB2 ribosomal protein S6 kinase B2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1313003 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12393699 RPS6KB2 ribosomal protein S6 kinase B2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1313003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12393699 RPS6KB2 ribosomal protein S6 kinase B2 gene DOID:9008939 Breast Neoplasms ISO RGD:1313003 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953835 12393724 PCP4 Purkinje cell protein 4 gene DOID:127 leiomyoma ISO RGD:731616 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:uterine myometrium: PMID:14561813|REF_RGD_ID:9850247 12393724 PCP4 Purkinje cell protein 4 gene DOID:12849 autistic disorder ISO RGD:731616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12393724 PCP4 Purkinje cell protein 4 gene DOID:12858 Huntington's disease ISO RGD:731616 D RGD:9068941 20200609 RGD protein:decreased expression:substantium PMID:9697113|REF_RGD_ID:9850159 12393724 PCP4 Purkinje cell protein 4 gene DOID:1824 status epilepticus ISO RGD:3271 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain: PMID:20505763|REF_RGD_ID:9850150 12393724 PCP4 Purkinje cell protein 4 gene DOID:9002928 Colonic Neoplasms ISO RGD:731616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12393724 PCP4 Purkinje cell protein 4 gene DOID:9004004 Water-Electrolyte Imbalance ISO RGD:3271 D RGD:9068941 20200609 RGD PMID:11003989|REF_RGD_ID:9850274 12393724 PCP4 Purkinje cell protein 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3271 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cytoplasm: PMID:19480007|REF_RGD_ID:9850273 12393731 PKDCC protein kinase domain containing, cytoplasmic gene DOID:3883 Lynch syndrome ISO RGD:1605897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12393731 PKDCC protein kinase domain containing, cytoplasmic gene DOID:630 genetic disease ISO RGD:1605897 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:19097194|PMID:28492532|PMID:30478137|PMID:36896672 12393731 PKDCC protein kinase domain containing, cytoplasmic gene DOID:9003152 RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES ISO RGD:1605897 D RGD:7240710 20200819 OMIM 12393731 PKDCC protein kinase domain containing, cytoplasmic gene DOID:9003152 RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES ISO RGD:1605897 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Rhizomelic limb shortening with dysmorphic features PMID:16199547|PMID:19097194|PMID:25741868|PMID:28492532|PMID:30478137|PMID:36896672 12393731 PKDCC protein kinase domain containing, cytoplasmic gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0050635 alternating hemiplegia of childhood ISO RGD:732644 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Alternating hemiplegia of childhood PMID:24033266|PMID:25741868 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0050835 generalized dystonia ISO RGD:732644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia 12 PMID:11061257|PMID:12112218|PMID:14499619|PMID:15260953|PMID:15364580|PMID:15390049|PMID:16199547|PMID:16632466|PMID:17282997|PMID:17516473|PMID:17576681|PMID:17595045|PMID:18414213|PMID:19351654|PMID:19652145|PMID:19936820|PMID:20301294|PMID:20558373|PMID:20576601|PMID:21911500|PMID:22534615|PMID:22842232|PMID:22850527|PMID:22924536|PMID:23409136|PMID:23483595|PMID:23681173|PMID:24088041|PMID:24100174|PMID:24123283|PMID:24431296|PMID:24468074|PMID:24523486|PMID:24631656|PMID:24739246|PMID:24793181|PMID:24842602|PMID:24983657|PMID:24996492|PMID:25056583|PMID:25359261|PMID:25439493|PMID:25447930|PMID:25523819|PMID:25624492|PMID:25640679|PMID:25656163|PMID:25681536|PMID:25741868|PMID:25895915|PMID:25996915|PMID:26297560|PMID:26400718|PMID:26410222|PMID:26417536|PMID:26453127|PMID:26467025|PMID:26633545|PMID:26990090|PMID:26993267|PMID:27146299|PMID:27268479|PMID:27549929|PMID:27626066|PMID:27634470|PMID:27726050|PMID:28214263|PMID:28293679|PMID:28441826|PMID:28492532|PMID:28500446|PMID:28637637|PMID:28849312|PMID:28901192|PMID:29066118|PMID:29269014|PMID:29302074|PMID:29305691|PMID:29397530|PMID:29801192|PMID:29915382|PMID:30071271|PMID:30392204|PMID:30657467|PMID:31031587|PMID:31361359|PMID:31425744|PMID:31616254|PMID:31618474|PMID:31942761|PMID:32454213|PMID:32581362|PMID:32653672|PMID:32895939|PMID:32963807|PMID:33446253|PMID:33451880|PMID:33868146|PMID:34008892|PMID:34342181|PMID:34906502|PMID:35047275|PMID:5996915|PMID:8255463|PMID:8733056|PMID:9109901|PMID:9536098 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0050842 oculogyric crisis ISO RGD:732644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oculogyric crisis PMID:15260953|PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24100174|PMID:24431296|PMID:24631656|PMID:24842602|PMID:25523819|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26410222|PMID:26417536|PMID:26633545|PMID:28293679|PMID:28492532|PMID:28637637|PMID:30071271|PMID:32581362 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0050888 syndromic intellectual disability ISO RGD:732644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0060041 autism spectrum disorder ISO RGD:732644 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:732644 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy PMID:25741868 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0080855 Parkinsonism ISO RGD:732644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15260953 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0090056 dystonia 12 ISO RGD:732644 D RGD:7240710 20180130 OMIM 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0090056 dystonia 12 ISO RGD:732644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dystonia 12 | ClinVar Annotator: match by term: Rapid-Onset Dystonia-Parkinsonism PMID:11061257|PMID:12112218|PMID:14499619|PMID:15260953|PMID:15364580|PMID:15390049|PMID:16199547|PMID:16632466|PMID:17282997|PMID:17516473|PMID:17576681|PMID:17595045|PMID:18414213|PMID:19351654|PMID:19652145|PMID:19936820|PMID:20301294|PMID:20558373|PMID:20576601|PMID:21911500|PMID:22534615|PMID:22842232|PMID:22850527|PMID:22924536|PMID:23409136|PMID:23483595|PMID:23681173|PMID:24100174|PMID:24123283|PMID:24431296|PMID:24468074|PMID:24523486|PMID:24631656|PMID:24739246|PMID:24793181|PMID:24842602|PMID:24983657|PMID:24996492|PMID:25056583|PMID:25359261|PMID:25439493|PMID:25447930|PMID:25523819|PMID:25624492|PMID:25640679|PMID:25656163|PMID:25681536|PMID:25741868|PMID:25895915|PMID:25996915|PMID:26297560|PMID:26400718|PMID:26410222|PMID:26417536|PMID:26453127|PMID:26467025|PMID:26633545|PMID:26990090|PMID:26993267|PMID:27146299|PMID:27268479|PMID:27549929|PMID:27626066|PMID:27634470|PMID:27726050|PMID:28214263|PMID:28293679|PMID:28441826|PMID:28492532|PMID:28500446|PMID:28637637|PMID:28647130|PMID:28849312|PMID:28901192|PMID:29066118|PMID:29269014|PMID:29302074|PMID:29305691|PMID:29397530|PMID:29801192|PMID:29915382|PMID:30071271|PMID:30283815|PMID:30392204|PMID:30657467|PMID:31031587|PMID:31361359|PMID:31425744|PMID:31616254|PMID:31618474|PMID:31942761|PMID:32454213|PMID:32581362|PMID:32653672|PMID:32895939|PMID:32963807|PMID:33446253|PMID:33451880|PMID:33868146|PMID:34008892|PMID:34342181|PMID:34906502|PMID:35047275|PMID:5996915|PMID:8255463|PMID:8733056|PMID:9109901|PMID:9536098 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:10485 esophageal atresia ISO RGD:732644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:1059 intellectual disability ISO RGD:732644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:10908 hydrocephalus ISO RGD:732644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:22842232|PMID:25741868|PMID:26297560|PMID:26410222|PMID:28492532 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:10969 hemiplegia ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hemiplegia PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24100174|PMID:24523486|PMID:24631656|PMID:24842602|PMID:24996492|PMID:25447930|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26410222|PMID:26993267|PMID:28293679|PMID:28492532|PMID:28637637|PMID:30071271|PMID:30657467 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:12835 quadriplegia ISO RGD:732644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Quadriparesis PMID:15260953|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24100174|PMID:24431296|PMID:24631656|PMID:24842602|PMID:25523819|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26410222|PMID:26417536|PMID:26633545|PMID:28293679|PMID:28492532|PMID:32581362 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:1342 congenital hypoplastic anemia ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:1826 epilepsy ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24100174|PMID:24523486|PMID:24631656|PMID:24842602|PMID:24996492|PMID:25447930|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26297560|PMID:26410222|PMID:26993267|PMID:28293679|PMID:28492532|PMID:28637637|PMID:30071271|PMID:30392204|PMID:30657467|PMID:31031587 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:2340 craniosynostosis ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:28492532 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:2468 psychotic disorder ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Juvenile onset psychosis PMID:25741868|PMID:27626066 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:3312 bipolar disorder ISO RGD:10207 D RGD:9068941 20220825 MouseDO 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:3312 bipolar disorder ISO RGD:732644 D RGD:9068941 20200609 RGD PMID:9646882|REF_RGD_ID:1358437 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:5419 schizophrenia ISO RGD:732644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:543 dystonia ISO RGD:732644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:15260953|PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24100174|PMID:24431296|PMID:24631656|PMID:24842602|PMID:25523819|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26410222|PMID:26417536|PMID:26633545|PMID:28293679|PMID:28492532|PMID:28637637|PMID:30071271|PMID:32581362 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:6000 congestive heart failure ISO RGD:732644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18418421 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:630 genetic disease ISO RGD:732644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14499619|PMID:15260953|PMID:15364580|PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:22924536|PMID:23409136|PMID:24100174|PMID:24431296|PMID:24468074|PMID:24523486|PMID:24631656|PMID:24793181|PMID:24842602|PMID:25056583|PMID:25523819|PMID:25624492|PMID:25681536|PMID:25741868|PMID:25895915|PMID:25996915|PMID:26400718|PMID:26410222|PMID:26417536|PMID:26453127|PMID:26633545|PMID:27268479|PMID:27634470|PMID:27726050|PMID:28293679|PMID:28441826|PMID:28492532|PMID:28500446|PMID:28637637|PMID:28647130|PMID:29066118|PMID:29302074|PMID:29305691|PMID:29397530|PMID:29913018|PMID:29915382|PMID:30071271|PMID:31425744|PMID:31616254|PMID:31618474|PMID:32581362|PMID:34008892|PMID:34342181|PMID:35047275|PMID:5996915|PMID:8733056 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:8398 osteoarthritis ISO RGD:732644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9000419 Benign Familial Neonatal Seizures, 1 ISO RGD:732644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9001126 Developmental and Epileptic Encephalopathy 99 ISO RGD:732644 D RGD:7240710 20211201 OMIM 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9001126 Developmental and Epileptic Encephalopathy 99 ISO RGD:732644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 99 PMID:15260953|PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24100174|PMID:24431296|PMID:24631656|PMID:24842602|PMID:25523819|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26410222|PMID:26417536|PMID:26467025|PMID:26633545|PMID:28293679|PMID:28492532|PMID:28637637|PMID:30071271|PMID:32581362|PMID:33880529 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9001300 Alternating Hemiplegia of Childhood 2 ISO RGD:732644 D RGD:7240710 20180130 OMIM 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9001300 Alternating Hemiplegia of Childhood 2 ISO RGD:732644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alternating hemiplegia of childhood 2 PMID:11061257|PMID:12112218|PMID:15260953|PMID:15390049|PMID:16199547|PMID:16632466|PMID:17282997|PMID:17516473|PMID:17576681|PMID:17595045|PMID:18414213|PMID:19652145|PMID:20301294|PMID:20576601|PMID:21911500|PMID:22534615|PMID:22842232|PMID:22850527|PMID:22924536|PMID:23409136|PMID:23483595|PMID:24100174|PMID:24123283|PMID:24431296|PMID:24468074|PMID:24523486|PMID:24631656|PMID:24793181|PMID:24842602|PMID:24983657|PMID:24996492|PMID:25056583|PMID:25447930|PMID:25523819|PMID:25656163|PMID:25681536|PMID:25741868|PMID:25895915|PMID:25996915|PMID:26297560|PMID:26400718|PMID:26410222|PMID:26417536|PMID:26453127|PMID:26467025|PMID:26633545|PMID:26993267|PMID:27146299|PMID:27268479|PMID:27626066|PMID:27634470|PMID:27726050|PMID:28293679|PMID:28441826|PMID:28492532|PMID:28500446|PMID:28637637|PMID:28647130|PMID:28849312|PMID:28901192|PMID:29066118|PMID:29302074|PMID:29305691|PMID:29397530|PMID:29915382|PMID:30071271|PMID:30657467|PMID:31425744|PMID:31616254|PMID:31942761|PMID:32454213|PMID:32581362|PMID:34008892|PMID:34342181|PMID:35047275|PMID:8733056|PMID:9536098 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:732644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18418421 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9001793 Generalized Epilepsy ISO RGD:732644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:32581362 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9007693 CAPOS Syndrome ISO RGD:732644 D RGD:7240710 20180130 OMIM 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9007693 CAPOS Syndrome ISO RGD:732644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss PMID:15260953|PMID:18414213|PMID:19652145|PMID:20301294|PMID:20576601|PMID:21911500|PMID:22842232|PMID:22850527|PMID:22924536|PMID:23409136|PMID:23483595|PMID:24100174|PMID:24431296|PMID:24468074|PMID:24523486|PMID:24631656|PMID:24793181|PMID:24842602|PMID:24996492|PMID:25056583|PMID:25326637|PMID:25447930|PMID:25523819|PMID:25681536|PMID:25741868|PMID:25895915|PMID:25996915|PMID:26400718|PMID:26410222|PMID:26417536|PMID:26453127|PMID:26467025|PMID:26633545|PMID:26993267|PMID:27268479|PMID:27634470|PMID:27726050|PMID:28293679|PMID:28441826|PMID:28492532|PMID:28500446|PMID:28637637|PMID:28647130|PMID:28708303|PMID:28849312|PMID:28901192|PMID:29066118|PMID:29305691|PMID:29397530|PMID:30071271|PMID:30657467|PMID:32581362|PMID:34008892|PMID:34342181|PMID:35047275|PMID:8733056 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9008086 Developmental Disabilities ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24631656|PMID:24842602|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26410222|PMID:28293679|PMID:28492532|PMID:28637637|PMID:30071271 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9008675 Dyskinesias ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskinesia PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24631656|PMID:24842602|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26410222|PMID:28293679|PMID:28492532|PMID:28637637|PMID:30071271 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9009131 Ventriculomegaly ISO RGD:732644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:22842232|PMID:25741868|PMID:26297560|PMID:26410222|PMID:28492532 12393741 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9269 maple syrup urine disease ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12393773 S100A12 S100 calcium binding protein A12 gene DOID:0111940 immunodeficiency 42 ISO RGD:1352115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12393773 S100A12 S100 calcium binding protein A12 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1352115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12393773 S100A12 S100 calcium binding protein A12 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1352115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12393773 S100A12 S100 calcium binding protein A12 gene DOID:1540 parathyroid carcinoma ISO RGD:1352115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12393773 S100A12 S100 calcium binding protein A12 gene DOID:403 mouth disease ISO RGD:1352115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 12393773 S100A12 S100 calcium binding protein A12 gene DOID:5812 MHC class II deficiency ISO RGD:1352115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12393773 S100A12 S100 calcium binding protein A12 gene DOID:630 genetic disease ISO RGD:1352115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393773 S100A12 S100 calcium binding protein A12 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12393781 APBA1 amyloid beta precursor protein binding family A member 1 gene DOID:630 genetic disease ISO RGD:732461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393818 C7H18orf21 chromosome 7 C18orf21 homolog gene DOID:1059 intellectual disability ISO RGD:1347622 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12393834 MIR369 microRNA mir-369 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1348667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 12393834 MIR369 microRNA mir-369 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1348667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12393834 MIR369 microRNA mir-369 gene DOID:9002170 Experimental Neoplasms ISO RGD:1348667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12393834 MIR369 microRNA mir-369 gene DOID:9005172 Lung Neoplasms ISO RGD:1348667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12393834 MIR369 microRNA mir-369 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1348667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 12393834 MIR369 microRNA mir-369 gene DOID:9007787 Carcinoid Tumor ISO RGD:1348667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12393834 MIR369 microRNA mir-369 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1348667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12393837 LOC102152013 zinc finger protein 850-like gene DOID:630 genetic disease ISO RGD:1606076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393880 AFP alpha fetoprotein gene DOID:10283 prostate cancer ISO RGD:736278 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17932343|REF_RGD_ID:2292038 12393880 AFP alpha fetoprotein gene DOID:1380 endometrial cancer severity ISO RGD:736278 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17659325|REF_RGD_ID:2292039 12393880 AFP alpha fetoprotein gene DOID:1883 hepatitis C treatment ISO RGD:736278 D RGD:9068941 20210430 RGD PMID:25914481|REF_RGD_ID:126790581 12393880 AFP alpha fetoprotein gene DOID:1911 endodermal sinus tumor ISO RGD:736278 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17525908|REF_RGD_ID:2292040 12393880 AFP alpha fetoprotein gene DOID:2237 hepatitis ISO RGD:2065 D RGD:9068941 20210430 RGD protein:increased expression:serum, liver oval cell PMID:2459091|REF_RGD_ID:126848736 12393880 AFP alpha fetoprotein gene DOID:3305 teratocarcinoma ISO RGD:736278 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:68943|REF_RGD_ID:2292041 12393880 AFP alpha fetoprotein gene DOID:3308 embryonal carcinoma ISO RGD:736278 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:68943|REF_RGD_ID:2292041 12393880 AFP alpha fetoprotein gene DOID:409 liver disease ISO RGD:736278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16965562 12393880 AFP alpha fetoprotein gene DOID:4450 renal cell carcinoma ISO RGD:736278 D RGD:9068941 20200609 RGD PMID:1714107|REF_RGD_ID:2292042 12393880 AFP alpha fetoprotein gene DOID:5426 primary ovarian insufficiency ISO RGD:736278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12393880 AFP alpha fetoprotein gene DOID:630 genetic disease ISO RGD:736278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393880 AFP alpha fetoprotein gene DOID:684 hepatocellular carcinoma ISO RGD:736278 D RGD:9068941 20210528 RGD protein:increased expression:serum (human) PMID:22392353|REF_RGD_ID:125097525 12393880 AFP alpha fetoprotein gene DOID:684 hepatocellular carcinoma ISO RGD:736278 D RGD:9068941 20210813 CTD CTD Direct Evidence: marker/mechanism PMID:15276417|PMID:24012840|PMID:28284560|PMID:32961231|PMID:9029167 12393880 AFP alpha fetoprotein gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736278 D RGD:9068941 20210430 RGD PMID:28611981|REF_RGD_ID:126790579 12393880 AFP alpha fetoprotein gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736278 D RGD:9068941 20210430 RGD associated with hepatitis B PMID:25968302|REF_RGD_ID:126790583 12393880 AFP alpha fetoprotein gene DOID:684 hepatocellular carcinoma severity ISO RGD:736278 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:22147961|REF_RGD_ID:14401581 12393880 AFP alpha fetoprotein gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2065 D RGD:9068941 20220520 RGD PMID:25999787|REF_RGD_ID:152177911 12393880 AFP alpha fetoprotein gene DOID:9000217 Stomach Neoplasms ISO RGD:736278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23382965 12393880 AFP alpha fetoprotein gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:736278 D RGD:9068941 20200609 RGD PMID:18203521|REF_RGD_ID:2292037 12393880 AFP alpha fetoprotein gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:736278 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12393880 AFP alpha fetoprotein gene DOID:9001493 Alpha-Fetoprotein Deficiency ISO RGD:736278 D RGD:7240710 20180130 OMIM 12393880 AFP alpha fetoprotein gene DOID:9001493 Alpha-Fetoprotein Deficiency ISO RGD:736278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-fetoprotein deficiency PMID:18854864 12393880 AFP alpha fetoprotein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 12393880 AFP alpha fetoprotein gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2065 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 12393880 AFP alpha fetoprotein gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736278 D RGD:9068941 20210813 CTD CTD Direct Evidence: marker/mechanism PMID:24012840|PMID:32961231 12393880 AFP alpha fetoprotein gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736278 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16322315 12393880 AFP alpha fetoprotein gene DOID:9007456 Female Infertility ISO RGD:10116 D RGD:9068941 20200609 RGD PMID:12297623|REF_RGD_ID:1300268 12393880 AFP alpha fetoprotein gene DOID:9007967 Alpha-Fetoprotein, Hereditary Persistence of ISO RGD:736278 D RGD:7240710 20221221 OMIM 12393880 AFP alpha fetoprotein gene DOID:9007967 Alpha-Fetoprotein, Hereditary Persistence of ISO RGD:736278 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alpha-fetoprotein, hereditary persistence of PMID:14699509|PMID:7684942 12393880 AFP alpha fetoprotein gene DOID:9008939 Breast Neoplasms ISO RGD:736278 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18497072 12393899 CRY1 cryptochrome circadian regulator 1 gene DOID:0050628 advanced sleep phase syndrome ISO RGD:1353919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12393899 CRY1 cryptochrome circadian regulator 1 gene DOID:0080600 COVID-19 ISO RGD:1353919 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12393899 CRY1 cryptochrome circadian regulator 1 gene DOID:0111141 delayed sleep phase syndrome ISO RGD:1353919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delayed sleep phase syndrome, susceptibility to PMID:28388406|PMID:32538895 12393899 CRY1 cryptochrome circadian regulator 1 gene DOID:0111141 delayed sleep phase syndrome susceptibility ISO RGD:1353919 D RGD:7240710 20220824 OMIM 12393899 CRY1 cryptochrome circadian regulator 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1353919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:28388406|PMID:32538895 12393899 CRY1 cryptochrome circadian regulator 1 gene DOID:630 genetic disease ISO RGD:1353919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12393899 CRY1 cryptochrome circadian regulator 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:1353919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16999817 12393899 CRY1 cryptochrome circadian regulator 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12393927 VARS2 valyl-tRNA synthetase 2, mitochondrial gene DOID:0050553 JMP syndrome ISO RGD:1346332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12393927 VARS2 valyl-tRNA synthetase 2, mitochondrial gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1346332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 PMID:25741868 12393927 VARS2 valyl-tRNA synthetase 2, mitochondrial gene DOID:0111478 combined oxidative phosphorylation deficiency 20 ISO RGD:1346332 D RGD:7240710 20180130 OMIM 12393927 VARS2 valyl-tRNA synthetase 2, mitochondrial gene DOID:0111478 combined oxidative phosphorylation deficiency 20 ISO RGD:1346332 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20 PMID:12345|PMID:16199547|PMID:24827421|PMID:25058219|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29313548|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496 12393927 VARS2 valyl-tRNA synthetase 2, mitochondrial gene DOID:11372 megacolon ISO RGD:1346332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12393927 VARS2 valyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1346332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12345|PMID:24827421|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29313548|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496 12393927 VARS2 valyl-tRNA synthetase 2, mitochondrial gene DOID:9009098 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY ISO RGD:1346332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 12393972 UBA2 ubiquitin like modifier activating enzyme 2 gene DOID:0060408 chromosome 19q13.11 deletion syndrome ISO RGD:1602133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 19q13.11 deletion syndrome, distal PMID:25741868 12393972 UBA2 ubiquitin like modifier activating enzyme 2 gene DOID:0090020 split hand-foot malformation ISO RGD:1602133 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ectrodactyly PMID:25741868|PMID:34040189 12393972 UBA2 ubiquitin like modifier activating enzyme 2 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1602133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12393972 UBA2 ubiquitin like modifier activating enzyme 2 gene DOID:630 genetic disease ISO RGD:1602133 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:34040189 12393972 UBA2 ubiquitin like modifier activating enzyme 2 gene DOID:9004913 ACCES Syndrome ISO RGD:1602133 D RGD:7240710 20220831 OMIM 12393972 UBA2 ubiquitin like modifier activating enzyme 2 gene DOID:9004913 ACCES Syndrome ISO RGD:1602133 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: ACCES syndrome | ClinVar Annotator: match by term: APLASIA CUTIS CONGENITA WITH ECTRODACTYLY SKELETAL SYNDROME PMID:11920840|PMID:25741868|PMID:28110515|PMID:28492532|PMID:31332306|PMID:31587267|PMID:32758660|PMID:34040189 12394002 MKRN2 makorin ring finger protein 2 gene DOID:0060583 Noonan syndrome 5 ISO RGD:1321625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 5 12394002 MKRN2 makorin ring finger protein 2 gene DOID:0080549 Noonan syndrome with multiple lentigines 2 ISO RGD:1321625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 2 12394002 MKRN2 makorin ring finger protein 2 gene DOID:0080690 RASopathy ISO RGD:1321625 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12394002 MKRN2 makorin ring finger protein 2 gene DOID:630 genetic disease ISO RGD:1321625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394019 ARL6IP5 ADP ribosylation factor like GTPase 6 interacting protein 5 gene DOID:0060001 withdrawal disorder ISO RGD:1344465 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21600884 12394019 ARL6IP5 ADP ribosylation factor like GTPase 6 interacting protein 5 gene DOID:630 genetic disease ISO RGD:1344465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394019 ARL6IP5 ADP ribosylation factor like GTPase 6 interacting protein 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22452940 12394019 ARL6IP5 ADP ribosylation factor like GTPase 6 interacting protein 5 gene DOID:9002170 Experimental Neoplasms ISO RGD:1344465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29545876 12394019 ARL6IP5 ADP ribosylation factor like GTPase 6 interacting protein 5 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1344465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29545876 12394026 SNCB synuclein beta gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:733869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12394026 SNCB synuclein beta gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:733869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12394026 SNCB synuclein beta gene DOID:0112103 Sotos syndrome 1 ISO RGD:733869 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12394026 SNCB synuclein beta gene DOID:10652 Alzheimer's disease ISO RGD:733869 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:11578596|REF_RGD_ID:6480194 12394026 SNCB synuclein beta gene DOID:11870 Pick's disease ISO RGD:733869 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus PMID:12410393|REF_RGD_ID:6480200 12394026 SNCB synuclein beta gene DOID:12217 Lewy body dementia ISO RGD:733869 D RGD:7240710 20180130 OMIM 12394026 SNCB synuclein beta gene DOID:12217 Lewy body dementia ISO RGD:733869 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lewy body dementia PMID:15365127|PMID:21045828|PMID:25741868|PMID:26332674|PMID:31589614|PMID:33760043 12394026 SNCB synuclein beta gene DOID:13141 uveitis ISO RGD:70992 D RGD:9068941 20200609 RGD PMID:12496452|REF_RGD_ID:730073 12394026 SNCB synuclein beta gene DOID:14330 Parkinson's disease ISO RGD:733869 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:10557341|REF_RGD_ID:6480095 12394026 SNCB synuclein beta gene DOID:14330 Parkinson's disease onset ISO RGD:733869 D RGD:9068941 20200609 RGD DNA:SNP: :rs1352303(human) PMID:17556099|REF_RGD_ID:6478793 12394026 SNCB synuclein beta gene DOID:3321 GM2 gangliosidosis ISO RGD:736763 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:12657883|REF_RGD_ID:6480199 12394026 SNCB synuclein beta gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:733869 D RGD:9068941 20200609 RGD PMID:10934140|REF_RGD_ID:6480098 12394026 SNCB synuclein beta gene DOID:630 genetic disease ISO RGD:733869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394026 SNCB synuclein beta gene DOID:8761 acute megakaryocytic leukemia ISO RGD:733869 D RGD:9068941 20200609 RGD PMID:21264917|REF_RGD_ID:6478703 12394026 SNCB synuclein beta gene DOID:9000998 Brain Injuries ISO RGD:736763 D RGD:9068941 20200609 RGD PMID:14637093|REF_RGD_ID:6480195 12394026 SNCB synuclein beta gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:70992 D RGD:9068941 20200609 RGD PMID:12496452|REF_RGD_ID:730073 12394026 SNCB synuclein beta gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:733869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12394026 SNCB synuclein beta gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:733869 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 12394036 MSANTD4 Myb/SANT DNA binding domain containing 4 with coiled-coils gene DOID:1059 intellectual disability ISO RGD:1603604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12394036 MSANTD4 Myb/SANT DNA binding domain containing 4 with coiled-coils gene DOID:12704 ataxia telangiectasia ISO RGD:1603604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12394036 MSANTD4 Myb/SANT DNA binding domain containing 4 with coiled-coils gene DOID:630 genetic disease ISO RGD:1603604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394036 MSANTD4 Myb/SANT DNA binding domain containing 4 with coiled-coils gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12394049 TUFM Tu translation elongation factor, mitochondrial gene DOID:0050692 Brody myopathy ISO RGD:1313566 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brody myopathy PMID:17882224|PMID:24707176|PMID:28492532 12394049 TUFM Tu translation elongation factor, mitochondrial gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1313566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:17576681|PMID:28492532|PMID:9536098 12394049 TUFM Tu translation elongation factor, mitochondrial gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1313566 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 12394049 TUFM Tu translation elongation factor, mitochondrial gene DOID:0111494 combined oxidative phosphorylation deficiency 4 ISO RGD:1313566 D RGD:7240710 20180130 OMIM 12394049 TUFM Tu translation elongation factor, mitochondrial gene DOID:0111494 combined oxidative phosphorylation deficiency 4 ISO RGD:1313566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 4 PMID:17160893|PMID:19524667|PMID:20435138|PMID:25741868|PMID:26741492|PMID:28492532 12394049 TUFM Tu translation elongation factor, mitochondrial gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1313566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 12394049 TUFM Tu translation elongation factor, mitochondrial gene DOID:5419 schizophrenia ISO RGD:1313566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12394049 TUFM Tu translation elongation factor, mitochondrial gene DOID:630 genetic disease ISO RGD:1313566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12394049 TUFM Tu translation elongation factor, mitochondrial gene DOID:9000117 Esophageal Neoplasms ISO RGD:1313566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 12394049 TUFM Tu translation elongation factor, mitochondrial gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1313566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 12394063 NME1 non-metastatic cells 1, protein (NM23A) expressed in gene DOID:0080600 COVID-19 ISO RGD:735393 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12394063 NME1 non-metastatic cells 1, protein (NM23A) expressed in gene DOID:10286 prostate carcinoma ISO RGD:735393 D RGD:9068941 20200609 RGD PMID:8618340|REF_RGD_ID:2299063 12394063 NME1 non-metastatic cells 1, protein (NM23A) expressed in gene DOID:11054 urinary bladder cancer ISO RGD:735393 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:7614395|REF_RGD_ID:2299071 12394063 NME1 non-metastatic cells 1, protein (NM23A) expressed in gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735393 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9527842 12394063 NME1 non-metastatic cells 1, protein (NM23A) expressed in gene DOID:1612 breast cancer disease_progression ISO RGD:735393 D RGD:9068941 20200609 RGD PMID:8605098|REF_RGD_ID:2299064 12394063 NME1 non-metastatic cells 1, protein (NM23A) expressed in gene DOID:1749 squamous cell carcinoma severity ISO RGD:735393 D RGD:9068941 20200609 RGD protein:decreased expression:tumor (human) PMID:8978595|REF_RGD_ID:5133245 12394063 NME1 non-metastatic cells 1, protein (NM23A) expressed in gene DOID:2152 ovary epithelial cancer ISO RGD:735393 D RGD:9068941 20200609 RGD DNA:deletion PMID:7622307|REF_RGD_ID:2299069 12394063 NME1 non-metastatic cells 1, protein (NM23A) expressed in gene DOID:2394 ovarian cancer ISO RGD:735393 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:8519661|REF_RGD_ID:2299066 12394063 NME1 non-metastatic cells 1, protein (NM23A) expressed in gene DOID:2394 ovarian cancer disease_progression ISO RGD:735393 D RGD:9068941 20200609 RGD PMID:8636741|REF_RGD_ID:2299065 12394063 NME1 non-metastatic cells 1, protein (NM23A) expressed in gene DOID:3307 teratoma ISO RGD:735393 D RGD:9068941 20200609 RGD DNA:deletion PMID:7518576|REF_RGD_ID:2299072 12394063 NME1 non-metastatic cells 1, protein (NM23A) expressed in gene DOID:3459 breast carcinoma ISO RGD:735393 D RGD:9068941 20200609 RGD PMID:9036878|REF_RGD_ID:2299061 12394063 NME1 non-metastatic cells 1, protein (NM23A) expressed in gene DOID:3587 pancreatic ductal carcinoma ISO RGD:735393 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:17492507|REF_RGD_ID:5132867 12394063 NME1 non-metastatic cells 1, protein (NM23A) expressed in gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:735393 D RGD:9068941 20200609 RGD PMID:9663430|REF_RGD_ID:2299059 12394063 NME1 non-metastatic cells 1, protein (NM23A) expressed in gene DOID:630 genetic disease ISO RGD:735393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394063 NME1 non-metastatic cells 1, protein (NM23A) expressed in gene DOID:684 hepatocellular carcinoma ISO RGD:735393 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12394063 NME1 non-metastatic cells 1, protein (NM23A) expressed in gene DOID:769 neuroblastoma ISO RGD:735393 D RGD:9068941 20200609 RGD PMID:8047138|REF_RGD_ID:1600229 12394063 NME1 non-metastatic cells 1, protein (NM23A) expressed in gene DOID:9000081 Lymphatic Metastasis ISO RGD:735393 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:8102131|PMID:9036878|REF_RGD_ID:2299061|REF_RGD_ID:2299077 12394063 NME1 non-metastatic cells 1, protein (NM23A) expressed in gene DOID:9000081 Lymphatic Metastasis ISO RGD:735393 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms; associated with Endometrial Neoplasms PMID:8855975|REF_RGD_ID:2299062 12394063 NME1 non-metastatic cells 1, protein (NM23A) expressed in gene DOID:9000965 Neoplasm Metastasis ISO RGD:735393 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15928304 12394063 NME1 non-metastatic cells 1, protein (NM23A) expressed in gene DOID:9000965 Neoplasm Metastasis ISO RGD:735393 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms PMID:7622307|REF_RGD_ID:2299069 12394063 NME1 non-metastatic cells 1, protein (NM23A) expressed in gene DOID:9002669 Hypoxia ISO RGD:735393 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 12394063 NME1 non-metastatic cells 1, protein (NM23A) expressed in gene DOID:9003936 Cardiomegaly ISO RGD:70497 D RGD:9068941 20200609 RGD protein:increased expression:heart, plasma membrane (rat) PMID:14559858|REF_RGD_ID:5132887 12394063 NME1 non-metastatic cells 1, protein (NM23A) expressed in gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735393 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 12394063 NME1 non-metastatic cells 1, protein (NM23A) expressed in gene DOID:9008443 Colorectal Neoplasms ISO RGD:735393 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 12394078 OR5D14 olfactory receptor family 5 subfamily D member 14 gene DOID:1059 intellectual disability ISO RGD:1350020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12394078 OR5D14 olfactory receptor family 5 subfamily D member 14 gene DOID:630 genetic disease ISO RGD:1350020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394081 CCDC8 coiled-coil domain containing 8 gene DOID:630 genetic disease ISO RGD:1351060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12394081 CCDC8 coiled-coil domain containing 8 gene DOID:9002003 Three M Syndrome 3 ISO RGD:1351060 D RGD:7240710 20180130 OMIM 12394081 CCDC8 coiled-coil domain containing 8 gene DOID:9002003 Three M Syndrome 3 ISO RGD:1351060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3M syndrome 3 PMID:21737058|PMID:25741868|PMID:28492532|PMID:28675896 12394086 GREM1 gremlin 1, DAN family BMP antagonist gene DOID:0050424 familial adenomatous polyposis ISO RGD:1346462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561515 12394086 GREM1 gremlin 1, DAN family BMP antagonist gene DOID:0111684 hereditary mixed polyposis syndrome ISO RGD:1346462 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary mixed polyposis syndrome PMID:33208383 12394086 GREM1 gremlin 1, DAN family BMP antagonist gene DOID:2717 Bloom syndrome ISO RGD:1346462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12394086 GREM1 gremlin 1, DAN family BMP antagonist gene DOID:3770 pulmonary fibrosis ISO RGD:1346462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17975199 12394086 GREM1 gremlin 1, DAN family BMP antagonist gene DOID:5426 primary ovarian insufficiency ISO RGD:1346462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12394086 GREM1 gremlin 1, DAN family BMP antagonist gene DOID:9000217 Stomach Neoplasms ISO RGD:1346462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12394086 GREM1 gremlin 1, DAN family BMP antagonist gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346462 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26845104|PMID:28492532|PMID:33208383 12394086 GREM1 gremlin 1, DAN family BMP antagonist gene DOID:9008443 Colorectal Neoplasms ISO RGD:1346462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18084292|PMID:30510241 12394086 GREM1 gremlin 1, DAN family BMP antagonist gene DOID:9256 colorectal cancer ISO RGD:1346462 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25741868|PMID:25992589|PMID:26493165|PMID:26947005|PMID:28492532|PMID:29804199 12394095 GPR176 G protein-coupled receptor 176 gene DOID:2717 Bloom syndrome ISO RGD:737562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12394095 GPR176 G protein-coupled receptor 176 gene DOID:630 genetic disease ISO RGD:737562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394095 GPR176 G protein-coupled receptor 176 gene DOID:9256 colorectal cancer ISO RGD:737562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12394105 MEPE matrix extracellular phosphoglycoprotein gene DOID:10573 osteomalacia ISO RGD:736255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11414762 12394105 MEPE matrix extracellular phosphoglycoprotein gene DOID:630 genetic disease ISO RGD:736255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394105 MEPE matrix extracellular phosphoglycoprotein gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12394105 MEPE matrix extracellular phosphoglycoprotein gene DOID:9002589 Bone Fractures ISO RGD:736255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22504420 12394114 ITGA2 integrin subunit alpha 2 gene DOID:0060573 von Willebrand's disease 1 no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD DNA:SNP: :807C>T (human) PMID:14652648|REF_RGD_ID:11530070 12394114 ITGA2 integrin subunit alpha 2 gene DOID:0060573 von Willebrand's disease 1 severity ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:15226188|REF_RGD_ID:10766468 12394114 ITGA2 integrin subunit alpha 2 gene DOID:0060574 von Willebrand's disease 2 severity ISO RGD:1348738 D RGD:9068941 20200609 RGD DNA:haplotype:promoter: PMID:16409463|REF_RGD_ID:10766469 12394114 ITGA2 integrin subunit alpha 2 gene DOID:0060903 thrombosis ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:14563646|REF_RGD_ID:1582298 12394114 ITGA2 integrin subunit alpha 2 gene DOID:0060903 thrombosis susceptibility ISO RGD:1348738 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:snp:cds:c.807C>T (human) PMID:12412731|REF_RGD_ID:1582300 12394114 ITGA2 integrin subunit alpha 2 gene DOID:0081267 graft-versus-host disease treatment ISO RGD:1553829 D RGD:9068941 20200609 RGD PMID:11489992|REF_RGD_ID:8693305 12394114 ITGA2 integrin subunit alpha 2 gene DOID:0111045 platelet-type bleeding disorder 9 ISO RGD:1348738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 PMID:19500323|PMID:22862885|PMID:23368983|PMID:25741868|PMID:28492532 12394114 ITGA2 integrin subunit alpha 2 gene DOID:0111163 molybdenum cofactor deficiency type B ISO RGD:1348738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group B 12394114 ITGA2 integrin subunit alpha 2 gene DOID:0111165 molybdenum cofactor deficiency ISO RGD:1348738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency 12394114 ITGA2 integrin subunit alpha 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1348738 D RGD:9068941 20200609 RGD DNA:snp:cds:c.807C>T (rs1126643) (human) PMID:22948415|REF_RGD_ID:8686432 12394114 ITGA2 integrin subunit alpha 2 gene DOID:11758 iron deficiency anemia ISO RGD:1348738 D RGD:9068941 20200609 RGD DNA:SNP: :807C>T (human) PMID:12225391|REF_RGD_ID:11530068 12394114 ITGA2 integrin subunit alpha 2 gene DOID:13241 Behcet's disease susceptibility ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:12412731|REF_RGD_ID:1582300 12394114 ITGA2 integrin subunit alpha 2 gene DOID:13514 venous tributary occlusion of retina no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD DNA:snp:cds:g.807C>T (human) PMID:16157382|REF_RGD_ID:1582301 12394114 ITGA2 integrin subunit alpha 2 gene DOID:1588 thrombocytopenia ISO RGD:1348738 D RGD:9068941 20200609 RGD associated with Hantavirus Infections;DNA:SNP: :807C>T (rs1126643) (human) PMID:22133274|REF_RGD_ID:11530072 12394114 ITGA2 integrin subunit alpha 2 gene DOID:1727 retinal vein occlusion ISO RGD:1348738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12928694 12394114 ITGA2 integrin subunit alpha 2 gene DOID:1727 retinal vein occlusion susceptibility ISO RGD:1348738 D RGD:9068941 20200609 RGD DNA:snp, haplotype:cds:g.807C>T (human) PMID:12928694|REF_RGD_ID:8686430 12394114 ITGA2 integrin subunit alpha 2 gene DOID:2219 Glanzmann's thrombasthenia severity ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:14687991|REF_RGD_ID:1582297 12394114 ITGA2 integrin subunit alpha 2 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:11978651|REF_RGD_ID:1582304 12394114 ITGA2 integrin subunit alpha 2 gene DOID:289 endometriosis ISO RGD:1348738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12394114 ITGA2 integrin subunit alpha 2 gene DOID:3393 coronary artery disease no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:15227729|REF_RGD_ID:1582294 12394114 ITGA2 integrin subunit alpha 2 gene DOID:3611 acute retinal necrosis syndrome ISO RGD:1553829 D RGD:9068941 20200609 RGD protein:increased expression:eye anterior segment, natural killer cell (mouse) PMID:19387084|REF_RGD_ID:8693207 12394114 ITGA2 integrin subunit alpha 2 gene DOID:3891 placental insufficiency ISO RGD:621632 D RGD:9068941 20200609 RGD mRNA:decreased expression:placenta (rat) PMID:20621762|REF_RGD_ID:5147460 12394114 ITGA2 integrin subunit alpha 2 gene DOID:552 pneumonia treatment ISO RGD:1553829 D RGD:9068941 20200609 RGD PMID:11207307|REF_RGD_ID:8693217 12394114 ITGA2 integrin subunit alpha 2 gene DOID:5844 myocardial infarction ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:10194421|REF_RGD_ID:1581029 12394114 ITGA2 integrin subunit alpha 2 gene DOID:5844 myocardial infarction no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:15227729|REF_RGD_ID:1582294 12394114 ITGA2 integrin subunit alpha 2 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:16697311|REF_RGD_ID:1582296 12394114 ITGA2 integrin subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1348738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394114 ITGA2 integrin subunit alpha 2 gene DOID:8805 intermediate coronary syndrome susceptibility ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:15104219|REF_RGD_ID:1582303 12394114 ITGA2 integrin subunit alpha 2 gene DOID:8947 diabetic retinopathy no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snp:cds:c.807T>C (human) PMID:21632096|REF_RGD_ID:8686431 12394114 ITGA2 integrin subunit alpha 2 gene DOID:8947 diabetic retinopathy no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snp:intron:IVS8-1059T>C (human) PMID:18806884|REF_RGD_ID:2313281 12394114 ITGA2 integrin subunit alpha 2 gene DOID:8947 diabetic retinopathy severity ISO RGD:1348738 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; DNA:transition:cds:807C>T (human) PMID:12540964|REF_RGD_ID:2307419 12394114 ITGA2 integrin subunit alpha 2 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1348738 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snp:intron:IVS7+3160A>G (human) PMID:23776381|REF_RGD_ID:7777103 12394114 ITGA2 integrin subunit alpha 2 gene DOID:9000064 Cardiac Arrhythmias no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:10822074|REF_RGD_ID:1582305 12394114 ITGA2 integrin subunit alpha 2 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1553829 D RGD:9068941 20200609 RGD PMID:16534417|REF_RGD_ID:11530069 12394114 ITGA2 integrin subunit alpha 2 gene DOID:9000528 Coronary Disease no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:9684730|REF_RGD_ID:1582306 12394114 ITGA2 integrin subunit alpha 2 gene DOID:9002165 Diabetic Nephropathies severity ISO RGD:1348738 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:mesangial cell (human) PMID:8989742|REF_RGD_ID:2307420 12394114 ITGA2 integrin subunit alpha 2 gene DOID:9002211 Hyperalgesia ISO RGD:1348738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18234883 12394114 ITGA2 integrin subunit alpha 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:1553829 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:altered expression:natural killer cell (mouse) PMID:19321657|REF_RGD_ID:2307421 12394114 ITGA2 integrin subunit alpha 2 gene DOID:9003340 Neonatal Alloimmune Thrombocytopenia ISO RGD:1348738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal and neonatal alloimmune thrombocytopenia PMID:23368983|PMID:25741868 12394114 ITGA2 integrin subunit alpha 2 gene DOID:9003817 Sudden Hearing Loss susceptibility ISO RGD:1348738 D RGD:9068941 20200609 RGD DNA:SNP: :807C>T (human) PMID:16525573|REF_RGD_ID:1582302 12394114 ITGA2 integrin subunit alpha 2 gene DOID:9003871 Venous Thrombosis no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:16380674|REF_RGD_ID:1582295 12394114 ITGA2 integrin subunit alpha 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12394114 ITGA2 integrin subunit alpha 2 gene DOID:9007096 Stroke no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:12871362|REF_RGD_ID:1582299 12394114 ITGA2 integrin subunit alpha 2 gene DOID:9007096 Stroke susceptibility ISO RGD:1348738 D RGD:9068941 20200609 RGD DNA:SNP::807C>T(human) PMID:25207168|REF_RGD_ID:13592606 12394114 ITGA2 integrin subunit alpha 2 gene DOID:9007402 Gliosis ISO RGD:1348738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12851778 12394114 ITGA2 integrin subunit alpha 2 gene DOID:9007456 Female Infertility ISO RGD:1553829 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:altered expression:natural killer cell (mouse) PMID:19146775|REF_RGD_ID:2307422 12394114 ITGA2 integrin subunit alpha 2 gene DOID:9351 diabetes mellitus ISO RGD:1348738 D RGD:9068941 20200609 RGD protein:increased expression:monocyte (human) PMID:17466965|REF_RGD_ID:2307424 12394114 ITGA2 integrin subunit alpha 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348738 D RGD:9068941 20200609 RGD protein:increased expression:platelet (human) PMID:15025679|REF_RGD_ID:2307425 12394114 ITGA2 integrin subunit alpha 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1553829 D RGD:9068941 20200609 RGD protein:altered expression:thymocyte (mouse) PMID:18567821|REF_RGD_ID:2307423 12394148 NAV1 neuron navigator 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1315590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12394148 NAV1 neuron navigator 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1315590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12394148 NAV1 neuron navigator 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1315590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12394148 NAV1 neuron navigator 1 gene DOID:630 genetic disease ISO RGD:1315590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394148 NAV1 neuron navigator 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1315590 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12394148 NAV1 neuron navigator 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12394188 STYX serine/threonine/tyrosine interacting protein gene DOID:630 genetic disease ISO RGD:1312345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394208 ADM2 adrenomedullin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12394208 ADM2 adrenomedullin 2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1348112 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12394208 ADM2 adrenomedullin 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1348112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12394208 ADM2 adrenomedullin 2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1348112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12394208 ADM2 adrenomedullin 2 gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1348112 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 12394208 ADM2 adrenomedullin 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1348112 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12394208 ADM2 adrenomedullin 2 gene DOID:1059 intellectual disability ISO RGD:1348112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12394208 ADM2 adrenomedullin 2 gene DOID:178 vascular disease ISO RGD:1348112 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19910445 12394208 ADM2 adrenomedullin 2 gene DOID:630 genetic disease ISO RGD:1348112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394208 ADM2 adrenomedullin 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1348112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16987513 12394215 CCNY cyclin Y gene DOID:630 genetic disease ISO RGD:1347341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394215 CCNY cyclin Y gene DOID:8577 ulcerative colitis ISO RGD:1347341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438405 12394215 CCNY cyclin Y gene DOID:8778 Crohn's disease ISO RGD:1347341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438405 12394242 C27H12orf54 chromosome 27 C12orf54 homolog gene DOID:630 genetic disease ISO RGD:1606175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394266 RGS7BP regulator of G protein signaling 7 binding protein gene DOID:630 genetic disease ISO RGD:1604905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394266 RGS7BP regulator of G protein signaling 7 binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12394281 FAM53B family with sequence similarity 53 member B gene DOID:630 genetic disease ISO RGD:1350576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394296 LOC611363 mesothelin gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1349818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12394296 LOC611363 mesothelin gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1349818 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12394296 LOC611363 mesothelin gene DOID:14566 disease of cellular proliferation ISO RGD:1349818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23277285 12394296 LOC611363 mesothelin gene DOID:1532 pleural disease ISO RGD:1349818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23277285 12394296 LOC611363 mesothelin gene DOID:1790 malignant mesothelioma ISO RGD:1349818 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:19190155|PMID:27032653 12394296 LOC611363 mesothelin gene DOID:1793 pancreatic cancer ISO RGD:1349818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11751476 12394296 LOC611363 mesothelin gene DOID:1793 pancreatic cancer ISO RGD:1349818 D RGD:9068941 20200609 RGD PMID:17785569|PMID:18281514|PMID:19843662|REF_RGD_ID:2326052|REF_RGD_ID:2326056|REF_RGD_ID:2326062 12394296 LOC611363 mesothelin gene DOID:1793 pancreatic cancer ISO RGD:1349818 D RGD:9068941 20200609 RGD associated with Pancreatic Disease; protein:increased expression:pancreas PMID:17019794|REF_RGD_ID:2326060 12394296 LOC611363 mesothelin gene DOID:1826 epilepsy ISO RGD:1349818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12394296 LOC611363 mesothelin gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1349818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12394296 LOC611363 mesothelin gene DOID:2394 ovarian cancer ISO RGD:1349818 D RGD:9068941 20200609 RGD PMID:17581599|PMID:17785569|REF_RGD_ID:2326057|REF_RGD_ID:2326062 12394296 LOC611363 mesothelin gene DOID:26 pancreas disease ISO RGD:1349818 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19843662|REF_RGD_ID:2326052 12394296 LOC611363 mesothelin gene DOID:299 adenocarcinoma ISO RGD:1349818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11751476 12394296 LOC611363 mesothelin gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1349818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14576474|PMID:21775916|PMID:25347530 12394296 LOC611363 mesothelin gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1349818 D RGD:9068941 20200609 RGD DNA:hypomethylation:5'UTR PMID:12874021|REF_RGD_ID:2326065 12394296 LOC611363 mesothelin gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1349818 D RGD:9068941 20200609 RGD protein:increased secretion:serum PMID:19818733|REF_RGD_ID:2326055 12394296 LOC611363 mesothelin gene DOID:4608 common bile duct neoplasm ISO RGD:1349818 D RGD:9068941 20200609 RGD protein:increased expression:common bile duct, ampulla of vater PMID:16416732|REF_RGD_ID:2326064 12394296 LOC611363 mesothelin gene DOID:4897 bile duct carcinoma ISO RGD:1349818 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:17276942|REF_RGD_ID:2326059 12394296 LOC611363 mesothelin gene DOID:4947 cholangiocarcinoma ISO RGD:1349818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14576474 12394296 LOC611363 mesothelin gene DOID:630 genetic disease ISO RGD:1349818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394296 LOC611363 mesothelin gene DOID:9000081 Lymphatic Metastasis ISO RGD:1349818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22644300 12394296 LOC611363 mesothelin gene DOID:9000217 Stomach Neoplasms ISO RGD:1349818 D RGD:9068941 20230128 CTD CTD Direct Evidence: marker/mechanism PMID:22644300|PMID:35396937 12394296 LOC611363 mesothelin gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1349818 D RGD:9068941 20230128 CTD CTD Direct Evidence: marker/mechanism PMID:35396937 12394296 LOC611363 mesothelin gene DOID:9000918 Disease Progression ISO RGD:1349818 D RGD:9068941 20230128 CTD CTD Direct Evidence: marker/mechanism PMID:35396937 12394296 LOC611363 mesothelin gene DOID:9002762 Ovarian Neoplasms ISO RGD:1349818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11751476 12394296 LOC611363 mesothelin gene DOID:9002899 Mesothelial Neoplasms ISO RGD:1349818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20371980|PMID:21984916 12394296 LOC611363 mesothelin gene DOID:9003566 Mesothelioma ISO RGD:1349818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11751476|PMID:18394747|PMID:20933535 12394296 LOC611363 mesothelin gene DOID:9003566 Mesothelioma ISO RGD:1349818 D RGD:9068941 20200609 RGD PMID:17785569|REF_RGD_ID:2326062 12394296 LOC611363 mesothelin gene DOID:9003566 Mesothelioma ISO RGD:69333 D RGD:9068941 20200609 RGD protein:increased secretion:body fluid PMID:18505465|REF_RGD_ID:2326046 12394296 LOC611363 mesothelin gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1349818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14576474 12394311 JOSD2 Josephin domain containing 2 gene DOID:630 genetic disease ISO RGD:1606979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394325 MYPOP Myb related transcription factor, partner of profilin gene DOID:630 genetic disease ISO RGD:1606912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394363 SUMO3 small ubiquitin like modifier 3 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1346388 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 12394363 SUMO3 small ubiquitin like modifier 3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1346388 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12394363 SUMO3 small ubiquitin like modifier 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:1346388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12394363 SUMO3 small ubiquitin like modifier 3 gene DOID:12849 autistic disorder ISO RGD:1346388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12394363 SUMO3 small ubiquitin like modifier 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1346388 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12394363 SUMO3 small ubiquitin like modifier 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12394363 SUMO3 small ubiquitin like modifier 3 gene DOID:9263 homocystinuria ISO RGD:1346388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12394363 SUMO3 small ubiquitin like modifier 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1346388 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12394371 MIR137 microRNA mir-137 gene DOID:5419 schizophrenia ISO RGD:1345919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21926974 12394371 MIR137 microRNA mir-137 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1345919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 12394371 MIR137 microRNA mir-137 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1345919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12394374 MIR1-2 microRNA mir-1-2 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1350943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 12394374 MIR1-2 microRNA mir-1-2 gene DOID:1059 intellectual disability ISO RGD:1350943 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12394374 MIR1-2 microRNA mir-1-2 gene DOID:14330 Parkinson's disease ISO RGD:1350943 D RGD:9068941 20200609 RGD PMID:21295623|REF_RGD_ID:10755488 12394374 MIR1-2 microRNA mir-1-2 gene DOID:3393 coronary artery disease disease_progression ISO RGD:1350943 D RGD:9068941 20230202 RGD miRNA:decreased expression:blood plasma (human) PMID:25728840|REF_RGD_ID:11056497 12394374 MIR1-2 microRNA mir-1-2 gene DOID:9003397 Atrioventricular Septal Defect 5 ISO RGD:1350943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect 5 PMID:22318994|PMID:28492532 12394374 MIR1-2 microRNA mir-1-2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2325528 D RGD:9068941 20200609 RGD PMID:29741915|REF_RGD_ID:13800564 12394377 MIR342 microRNA mir-342 gene DOID:6000 congestive heart failure ISO RGD:1348172 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12394377 MIR342 microRNA mir-342 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 12394377 MIR342 microRNA mir-342 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12394377 MIR342 microRNA mir-342 gene DOID:9008939 Breast Neoplasms ISO RGD:1348172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 12394377 MIR342 microRNA mir-342 gene DOID:9256 colorectal cancer ISO RGD:1348172 D RGD:9068941 20220825 RGD RNA:decreased expression:colorectum (human) PMID:23758639|REF_RGD_ID:153344558 12394442 ZNF331 zinc finger protein 331 gene DOID:37 skin disease ISO RGD:1344097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12394442 ZNF331 zinc finger protein 331 gene DOID:630 genetic disease ISO RGD:1344097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394442 ZNF331 zinc finger protein 331 gene DOID:9007964 Arsenic Poisoning ISO RGD:1344097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12394458 ZC3HC1 zinc finger C3HC-type containing 1 gene DOID:3393 coronary artery disease ISO RGD:1347342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 12394458 ZC3HC1 zinc finger C3HC-type containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12394458 ZC3HC1 zinc finger C3HC-type containing 1 gene DOID:630 genetic disease ISO RGD:1347342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394458 ZC3HC1 zinc finger C3HC-type containing 1 gene DOID:9000528 Coronary Disease ISO RGD:1347342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 12394458 ZC3HC1 zinc finger C3HC-type containing 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 12394475 SLC5A6 solute carrier family 5 member 6 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:69654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12394475 SLC5A6 solute carrier family 5 member 6 gene DOID:630 genetic disease ISO RGD:69654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394475 SLC5A6 solute carrier family 5 member 6 gene DOID:9001105 NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE ISO RGD:69654 D RGD:7240710 20201216 OMIM 12394475 SLC5A6 solute carrier family 5 member 6 gene DOID:9001105 NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE ISO RGD:69654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration, infantile-onset, biotin-responsive PMID:25741868|PMID:27904971|PMID:28492532|PMID:31392107|PMID:31754459|PMID:35013551|PMID:35217562 12394475 SLC5A6 solute carrier family 5 member 6 gene DOID:9003994 PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE ISO RGD:69654 D RGD:7240710 20220810 OMIM 12394475 SLC5A6 solute carrier family 5 member 6 gene DOID:9003994 PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE ISO RGD:69654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral motor neuropathy, childhood-onset, biotin-responsive PMID:25741868|PMID:27904971|PMID:28492532|PMID:31754459|PMID:35013551 12394506 EIF3M eukaryotic translation initiation factor 3 subunit M gene DOID:1059 intellectual disability ISO RGD:1607072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12394506 EIF3M eukaryotic translation initiation factor 3 subunit M gene DOID:630 genetic disease ISO RGD:1607072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394524 DNASE2 deoxyribonuclease 2, lysosomal gene DOID:0050990 episodic ataxia type 2 ISO RGD:1343662 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12394524 DNASE2 deoxyribonuclease 2, lysosomal gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1343662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12394524 DNASE2 deoxyribonuclease 2, lysosomal gene DOID:0111254 glutaric acidemia I ISO RGD:1343662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12394524 DNASE2 deoxyribonuclease 2, lysosomal gene DOID:3413 alpha-mannosidosis ISO RGD:1343662 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12394524 DNASE2 deoxyribonuclease 2, lysosomal gene DOID:630 genetic disease ISO RGD:1343662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12394524 DNASE2 deoxyribonuclease 2, lysosomal gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1343662 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:28492532 12394524 DNASE2 deoxyribonuclease 2, lysosomal gene DOID:9001921 AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME ISO RGD:1343662 D RGD:7240710 20220615 OMIM 12394524 DNASE2 deoxyribonuclease 2, lysosomal gene DOID:9001921 AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME ISO RGD:1343662 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autoinflammatory-pancytopenia syndrome PMID:24242851|PMID:25741868|PMID:28492532|PMID:29259162|PMID:31775019 12394524 DNASE2 deoxyribonuclease 2, lysosomal gene DOID:9074 systemic lupus erythematosus ISO RGD:1343662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1307891 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:17006986|REF_RGD_ID:1599139 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:1317349 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:19422483|REF_RGD_ID:25440492 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:1317349 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: (human) PMID:25345946|REF_RGD_ID:24922200 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:1317350 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:serum, liver (mouse) PMID:29569260|REF_RGD_ID:24922201 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:25536648|PMID:26770322|REF_RGD_ID:25330097|REF_RGD_ID:25824941 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1317350 D RGD:9068941 20200609 RGD associated with obesity;protein:decreased expression:liver (mouse) PMID:19763702|REF_RGD_ID:25330094 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:0080547 non-alcoholic steatohepatitis susceptibility ISO RGD:1307891 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:20606728|REF_RGD_ID:21076282 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:20965162|REF_RGD_ID:25440494 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD associated with obesity PMID:30131158|REF_RGD_ID:25824942 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:1317350 D RGD:9068941 20200609 RGD PMID:18666257|REF_RGD_ID:25330095 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:10603 glucose intolerance treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:23797890|REF_RGD_ID:25330096 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:1612 breast cancer no_association ISO RGD:1317349 D RGD:9068941 20200609 RGD PMID:19723917|REF_RGD_ID:8694417 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:2018 hyperinsulinism ISO RGD:1307891 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle cell PMID:16326833|REF_RGD_ID:1625765 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:5082 liver cirrhosis ISO RGD:1317350 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (mouse) PMID:17006986|REF_RGD_ID:1599139 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:5844 myocardial infarction ISO RGD:1317350 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart left ventricle PMID:16415076|REF_RGD_ID:1625764 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:783 end stage renal disease ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:24028144|REF_RGD_ID:8695941 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:24797033|REF_RGD_ID:25824940 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis severity ISO RGD:1317350 D RGD:9068941 20200609 RGD PMID:29237572|REF_RGD_ID:24922203 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:23533720|REF_RGD_ID:8695947 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:19220660|REF_RGD_ID:2312478 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1317350 D RGD:9068941 20200609 RGD Reduced Adipor2 mRNA in livers of diabetic mice PMID:18222103|REF_RGD_ID:2312488 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus no_association ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:17884446|REF_RGD_ID:2312495 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:9005930 Endotoxemia severity ISO RGD:1307891 D RGD:9068941 20200609 RGD associated with obesity;mRNA:decreased expression:liver (rat) PMID:23838384|REF_RGD_ID:8695926 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:9006944 Alcoholic Fatty Liver treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:26115886|REF_RGD_ID:25330099 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:9006944 Alcoholic Fatty Liver treatment ISO RGD:1317350 D RGD:9068941 20200609 RGD PMID:18755807|PMID:22013387|PMID:27220557|REF_RGD_ID:25440493|REF_RGD_ID:25824939|REF_RGD_ID:25824943 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:1307891 D RGD:9068941 20200609 RGD associated with obesity, LPS;mRNA:decreased expression:liver (rat) PMID:23838384|REF_RGD_ID:8695926 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:9007456 Female Infertility ISO RGD:1317349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22265003 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:9007692 Insulin Resistance treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:24797033|PMID:30225267|REF_RGD_ID:21406435|REF_RGD_ID:25824940 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1317349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317349 D RGD:9068941 20200609 RGD Allele A of +33371 A/G polymorphism for ADIPOR2 confers increased risk of T2DM in a Chinese population PMID:18075289|REF_RGD_ID:2312490 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317349 D RGD:9068941 20200609 RGD Reduced expression of ADIPOR2 mRNA in muscle, which may contribute to insulin resistance PMID:18363889|REF_RGD_ID:2312486 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317349 D RGD:9068941 20200609 RGD Russian population, 129 cases, 117 controls PMID:18548168|REF_RGD_ID:2312480 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1317349 D RGD:9068941 20200609 RGD 985 T2DM cases and 1050 controls, Chinese population, SNP association study PMID:19631916|REF_RGD_ID:2312476 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:9452 fatty liver disease treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:30225267|REF_RGD_ID:21406435 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:9452 fatty liver disease treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19076162|REF_RGD_ID:2307264 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:9970 obesity ISO RGD:1307891 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:16483885|REF_RGD_ID:1625763 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:9970 obesity severity ISO RGD:1307891 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:23838384|REF_RGD_ID:8695926 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:9970 obesity treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:30225267|REF_RGD_ID:21406435 12394534 ADIPOR2 adiponectin receptor 2 gene DOID:9970 obesity treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD associated with non-alcoholic fatty liver disease PMID:30131158|REF_RGD_ID:25824942 12394554 BTBD1 BTB domain containing 1 gene DOID:13938 amenorrhea ISO RGD:1322160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12394554 BTBD1 BTB domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1322160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12394554 BTBD1 BTB domain containing 1 gene DOID:630 genetic disease ISO RGD:1322160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394554 BTBD1 BTB domain containing 1 gene DOID:9008456 Delayed Emergence from Anesthesia ISO RGD:1322160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16115977 12394554 BTBD1 BTB domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1322160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12394565 PDS5A PDS5 cohesin associated factor A gene DOID:11725 Cornelia de Lange syndrome ISO RGD:1316082 D RGD:9068941 20220825 MouseDO OMIM:122470 | OMIM:300590 | OMIM:300882 | OMIM:610759 | OMIM:614701 12394565 PDS5A PDS5 cohesin associated factor A gene DOID:630 genetic disease ISO RGD:1604045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394565 PDS5A PDS5 cohesin associated factor A gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1604045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 12394565 PDS5A PDS5 cohesin associated factor A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604045 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12394565 PDS5A PDS5 cohesin associated factor A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12394608 HNRNPH3 heterogeneous nuclear ribonucleoprotein H3 gene DOID:630 genetic disease ISO RGD:1320680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394634 IPO9 importin 9 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1321497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12394634 IPO9 importin 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1321497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12394634 IPO9 importin 9 gene DOID:630 genetic disease ISO RGD:1321497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394634 IPO9 importin 9 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1321497 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12394634 IPO9 importin 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12394661 RHOT1 ras homolog family member T1 gene DOID:231 motor neuron disease ISO RGD:1315970 D RGD:9068941 20220825 MouseDO 12394661 RHOT1 ras homolog family member T1 gene DOID:630 genetic disease ISO RGD:1315969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394697 ZDHHC5 zinc finger DHHC-type palmitoyltransferase 5 gene DOID:1059 intellectual disability ISO RGD:1314627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12394697 ZDHHC5 zinc finger DHHC-type palmitoyltransferase 5 gene DOID:630 genetic disease ISO RGD:1314627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394697 ZDHHC5 zinc finger DHHC-type palmitoyltransferase 5 gene DOID:6432 pulmonary hypertension treatment ISO RGD:1305643 D RGD:9068941 20200924 RGD PMID:25593290|REF_RGD_ID:38500244 12394697 ZDHHC5 zinc finger DHHC-type palmitoyltransferase 5 gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:1305643 D RGD:9068941 20200924 RGD PMID:25593290|REF_RGD_ID:38500244 12394718 PTPN4 protein tyrosine phosphatase non-receptor type 4 gene DOID:1059 intellectual disability ISO RGD:1316480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12394718 PTPN4 protein tyrosine phosphatase non-receptor type 4 gene DOID:12849 autistic disorder ISO RGD:1316480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12394718 PTPN4 protein tyrosine phosphatase non-receptor type 4 gene DOID:630 genetic disease ISO RGD:1316480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394718 PTPN4 protein tyrosine phosphatase non-receptor type 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316480 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:34527963 12394764 TOX2 TOX high mobility group box family member 2 gene DOID:2234 focal epilepsy ISO RGD:1350992 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12394764 TOX2 TOX high mobility group box family member 2 gene DOID:630 genetic disease ISO RGD:1350992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394764 TOX2 TOX high mobility group box family member 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12394787 MUC20 mucin 20, cell surface associated gene DOID:0080162 lupus nephritis ISO RGD:1312551 D RGD:9068941 20200609 RGD PMID:14565953|REF_RGD_ID:7364790 12394787 MUC20 mucin 20, cell surface associated gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1312550 D RGD:9068941 20200609 RGD DNA:repeat PMID:16508246|REF_RGD_ID:7364789 12394787 MUC20 mucin 20, cell surface associated gene DOID:3021 acute kidney failure ISO RGD:1312551 D RGD:9068941 20200609 RGD PMID:14565953|REF_RGD_ID:7364790 12394787 MUC20 mucin 20, cell surface associated gene DOID:5199 ureteral obstruction ISO RGD:1312551 D RGD:9068941 20200609 RGD PMID:14565953|REF_RGD_ID:7364790 12394795 SERPINB1 serpin family B member 1 gene DOID:630 genetic disease ISO RGD:1314687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394805 C3H15orf40 chromosome 3 C15orf40 homolog gene DOID:0110589 autosomal dominant nonsyndromic deafness 68 ISO RGD:1354175 D RGD:7240710 20211222 OMIM 12394805 C3H15orf40 chromosome 3 C15orf40 homolog gene DOID:0110589 autosomal dominant nonsyndromic deafness 68 ISO RGD:1354175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 68 PMID:25741868|PMID:25816005|PMID:30047143 12394805 C3H15orf40 chromosome 3 C15orf40 homolog gene DOID:13938 amenorrhea ISO RGD:1354175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12394805 C3H15orf40 chromosome 3 C15orf40 homolog gene DOID:2717 Bloom syndrome ISO RGD:1354175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12394805 C3H15orf40 chromosome 3 C15orf40 homolog gene DOID:630 genetic disease ISO RGD:1354175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12394805 C3H15orf40 chromosome 3 C15orf40 homolog gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1354175 D RGD:9068941 20211224 CTD CTD Direct Evidence: marker/mechanism PMID:15545022 12394805 C3H15orf40 chromosome 3 C15orf40 homolog gene DOID:9256 colorectal cancer ISO RGD:1354175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12394813 MXD3 MAX dimerization protein 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:734323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12394813 MXD3 MAX dimerization protein 3 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:734323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12394813 MXD3 MAX dimerization protein 3 gene DOID:0112103 Sotos syndrome 1 ISO RGD:734323 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 12394813 MXD3 MAX dimerization protein 3 gene DOID:630 genetic disease ISO RGD:734323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394813 MXD3 MAX dimerization protein 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:734323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12394813 MXD3 MAX dimerization protein 3 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:734323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 12394823 ESPN espin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:731924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 12394823 ESPN espin gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:731924 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12394823 ESPN espin gene DOID:0110494 autosomal recessive nonsyndromic deafness 36 ISO RGD:731924 D RGD:7240710 20180130 OMIM 12394823 ESPN espin gene DOID:0110494 autosomal recessive nonsyndromic deafness 36 ISO RGD:731924 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 36 | ClinVar Annotator: match by term: Deafness, autosomal recessive 36, with or without vestibular involvement | ClinVar Annotator: match by term: Deafness, autosomal recessive 36, without vestibular involvement | ClinVar Annotator: match by term: Deafness, without vestibular involvement, autosomal dominant PMID:15286153|PMID:15930085|PMID:18973245|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29572253|PMID:30303587|PMID:32747562|PMID:33297549|PMID:35802133|PMID:36633841|PMID:9763424 12394823 ESPN espin gene DOID:0110826 Usher syndrome type 1 ISO RGD:731924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:29572253 12394823 ESPN espin gene DOID:10003 sensorineural hearing loss ISO RGD:731924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 12394823 ESPN espin gene DOID:3426 vestibular disease ISO RGD:10825 D RGD:9068941 20200609 RGD PMID:10975527|REF_RGD_ID:734943 12394823 ESPN espin gene DOID:3426 vestibular disease ISO RGD:731924 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15286153 12394823 ESPN espin gene DOID:630 genetic disease ISO RGD:731924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25356970|PMID:28492532 12394823 ESPN espin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12394823 ESPN espin gene DOID:9008222 Usher Syndrome Type 1M ISO RGD:731924 D RGD:7240710 20191030 OMIM 12394823 ESPN espin gene DOID:9008222 Usher Syndrome Type 1M ISO RGD:731924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 1M PMID:15930085|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29572253|PMID:33297549 12394823 ESPN espin gene DOID:9008681 Deafness ISO RGD:10825 D RGD:9068941 20200609 RGD PMID:10975527|REF_RGD_ID:734943 12394823 ESPN espin gene DOID:9008681 Deafness ISO RGD:731924 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15286153|PMID:15930085 12394851 KIF18B kinesin family member 18B gene DOID:0080600 COVID-19 ISO RGD:2292085 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12394851 KIF18B kinesin family member 18B gene DOID:1909 melanoma ISO RGD:2292085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31617652 12394851 KIF18B kinesin family member 18B gene DOID:684 hepatocellular carcinoma ISO RGD:2292085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12394870 CORO6 coronin 6 gene DOID:0080600 COVID-19 ISO RGD:1354094 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12394870 CORO6 coronin 6 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1354094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 12394870 CORO6 coronin 6 gene DOID:3007 breast ductal carcinoma ISO RGD:1354094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12394870 CORO6 coronin 6 gene DOID:630 genetic disease ISO RGD:1354094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394892 GLT6D1 glycosyltransferase 6 domain containing 1 gene DOID:0050777 Joubert syndrome ISO RGD:1350682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12394892 GLT6D1 glycosyltransferase 6 domain containing 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1350682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 12394892 GLT6D1 glycosyltransferase 6 domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12394892 GLT6D1 glycosyltransferase 6 domain containing 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1350682 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12394892 GLT6D1 glycosyltransferase 6 domain containing 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1350682 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12394892 GLT6D1 glycosyltransferase 6 domain containing 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1350682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12394892 GLT6D1 glycosyltransferase 6 domain containing 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1350682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12394892 GLT6D1 glycosyltransferase 6 domain containing 1 gene DOID:3652 Leigh disease ISO RGD:1350682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12394892 GLT6D1 glycosyltransferase 6 domain containing 1 gene DOID:630 genetic disease ISO RGD:1350682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394892 GLT6D1 glycosyltransferase 6 domain containing 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1350682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 12394904 ZNF660 zinc finger protein 660 gene DOID:630 genetic disease ISO RGD:1346042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394910 STIM1 stromal interaction molecule 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12394910 STIM1 stromal interaction molecule 1 gene DOID:0060354 Stormorken syndrome ISO RGD:1315668 D RGD:7240710 20180130 OMIM 12394910 STIM1 stromal interaction molecule 1 gene DOID:0060354 Stormorken syndrome ISO RGD:1315668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Stormorken syndrome PMID:12623447|PMID:12745453|PMID:12944247|PMID:12944248|PMID:16199547|PMID:17576681|PMID:19420366|PMID:20876309|PMID:22190180|PMID:23332920|PMID:23851458|PMID:24033266|PMID:24492416|PMID:24570283|PMID:24591628|PMID:24619930|PMID:25044882|PMID:25326555|PMID:25577287|PMID:25640679|PMID:25741868|PMID:25918394|PMID:26184105|PMID:26255678|PMID:26436962|PMID:27066587|PMID:27239559|PMID:28492532|PMID:28624464|PMID:29237733|PMID:31844136|PMID:32098964|PMID:33468626|PMID:33628209|PMID:34498097|PMID:4085141|PMID:9536098 12394910 STIM1 stromal interaction molecule 1 gene DOID:0060758 immunodeficiency with hyper-IgM type 2 ISO RGD:1315668 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 PMID:25741868 12394910 STIM1 stromal interaction molecule 1 gene DOID:0080089 tubular aggregate myopathy 1 ISO RGD:1315668 D RGD:7240710 20190315 OMIM 12394910 STIM1 stromal interaction molecule 1 gene DOID:0080089 tubular aggregate myopathy 1 ISO RGD:1315668 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myopathy, tubular aggregate, 1 PMID:12623447|PMID:12745453|PMID:12944247|PMID:12944248|PMID:19420366|PMID:20876309|PMID:23332920|PMID:24033266|PMID:24570283|PMID:25326555|PMID:25577287|PMID:25741868|PMID:28492532 12394910 STIM1 stromal interaction molecule 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1315668 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12394910 STIM1 stromal interaction molecule 1 gene DOID:0111970 immunodeficiency 10 ISO RGD:1315668 D RGD:7240710 20180130 OMIM 12394910 STIM1 stromal interaction molecule 1 gene DOID:0111970 immunodeficiency 10 ISO RGD:1315668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to STIM1 deficiency PMID:19420366|PMID:20876309|PMID:21427704|PMID:22190180|PMID:24033266|PMID:24621671|PMID:25741868|PMID:25918394|PMID:26560041|PMID:28492532|PMID:31844136|PMID:32098964|PMID:33628209 12394910 STIM1 stromal interaction molecule 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12394910 STIM1 stromal interaction molecule 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1315668 D RGD:9068941 20220616 RGD protein:increased expression:stomach (human) PMID:27035326|REF_RGD_ID:152995363 12394910 STIM1 stromal interaction molecule 1 gene DOID:10763 hypertension ISO RGD:1315668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19897708 12394910 STIM1 stromal interaction molecule 1 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:1306831 D RGD:9068941 20210917 RGD DNA:missense mutation:cds:premature stop codon PMID:26574044|REF_RGD_ID:150429659 12394910 STIM1 stromal interaction molecule 1 gene DOID:1324 lung cancer ameliorates ISO RGD:1315668 D RGD:9068941 20220616 RGD human cells in mouse model PMID:27863410|REF_RGD_ID:152995356 12394910 STIM1 stromal interaction molecule 1 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:1315668 D RGD:9068941 20220616 RGD protein:increased expression:esophagus (human) PMID:31843504|REF_RGD_ID:152995393 12394910 STIM1 stromal interaction molecule 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1315668 D RGD:9068941 20220616 RGD mRNA:increased expression:blood plasma (human) PMID:32184656|REF_RGD_ID:152995359 12394910 STIM1 stromal interaction molecule 1 gene DOID:422 congenital structural myopathy ISO RGD:1315668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12394910 STIM1 stromal interaction molecule 1 gene DOID:630 genetic disease ISO RGD:1315668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12394910 STIM1 stromal interaction molecule 1 gene DOID:6364 migraine ISO RGD:1315668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Migraine PMID:25741868 12394910 STIM1 stromal interaction molecule 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1315668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12394910 STIM1 stromal interaction molecule 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1315668 D RGD:9068941 20220616 RGD mRNA:increased expression:liver (human) PMID:23211538|REF_RGD_ID:152995401 12394910 STIM1 stromal interaction molecule 1 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1315668 D RGD:9068941 20220616 RGD associated with nasopharynx carcinoma; human cells in mouse model PMID:32165272|REF_RGD_ID:152995361 12394910 STIM1 stromal interaction molecule 1 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1315668 D RGD:9068941 20220616 RGD human cells in mouse model;associated with lung cancer PMID:28713917|REF_RGD_ID:152995357 12394910 STIM1 stromal interaction molecule 1 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1347076 D RGD:9068941 20220616 RGD associated with hepatocellular carcinoma; human cells in mouse model PMID:32483465|REF_RGD_ID:152995387 12394910 STIM1 stromal interaction molecule 1 gene DOID:9000965 Neoplasm Metastasis exacerbates ISO RGD:1315668 D RGD:9068941 20220616 RGD associated with hepatocellular carcinoma;protein:decreased expression:liver (human) PMID:32483465|REF_RGD_ID:152995387 12394910 STIM1 stromal interaction molecule 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1315668 D RGD:9068941 20220616 RGD associated with stomach cancer; human cells in mouse model PMID:27431311|REF_RGD_ID:152995400 12394910 STIM1 stromal interaction molecule 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:1315668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27863410 12394910 STIM1 stromal interaction molecule 1 gene DOID:9002514 Neointima ameliorates ISO RGD:1306831 D RGD:9068941 20220421 RGD PMID:19107116|REF_RGD_ID:151893459 12394910 STIM1 stromal interaction molecule 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1315668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27863410 12394910 STIM1 stromal interaction molecule 1 gene DOID:9253 gastrointestinal stromal tumor ameliorates ISO RGD:1315668 D RGD:9068941 20220616 RGD human cells in mouse model PMID:29957833|REF_RGD_ID:152995399 12394910 STIM1 stromal interaction molecule 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1315668 D RGD:9068941 20220616 RGD mRNA,protein:increased expression:colorectum (human) PMID:25381814|PMID:25531324|REF_RGD_ID:152995364|REF_RGD_ID:152995402 12394910 STIM1 stromal interaction molecule 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1315668 D RGD:9068941 20220617 RGD DNA:SNPs:intron, 3'utr: (rs3794050,rs7934581,rs3750996) (human) PMID:33470690|REF_RGD_ID:152995405 12394936 AVPI1 arginine vasopressin induced 1 gene DOID:630 genetic disease ISO RGD:1353971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394936 AVPI1 arginine vasopressin induced 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1353971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12394952 PDE2A phosphodiesterase 2A gene DOID:0050700 cardiomyopathy ISO RGD:620965 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis;mRNA:increased expression:cardiac myocyte: PMID:19003918|REF_RGD_ID:10449440 12394952 PDE2A phosphodiesterase 2A gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:730957 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12394952 PDE2A phosphodiesterase 2A gene DOID:1059 intellectual disability ISO RGD:730957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate PMID:25741868|PMID:32467598 12394952 PDE2A phosphodiesterase 2A gene DOID:10652 Alzheimer's disease treatment ISO RGD:737365 D RGD:9068941 20200609 RGD PMID:22771768|REF_RGD_ID:10449025 12394952 PDE2A phosphodiesterase 2A gene DOID:12859 choreatic disease ISO RGD:730957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Choreatic disease PMID:25741868|PMID:32467598 12394952 PDE2A phosphodiesterase 2A gene DOID:543 dystonia ISO RGD:730957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal dystonia PMID:25741868|PMID:32467598 12394952 PDE2A phosphodiesterase 2A gene DOID:630 genetic disease ISO RGD:730957 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12394952 PDE2A phosphodiesterase 2A gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:620965 D RGD:9068941 20200609 RGD PMID:12834273|REF_RGD_ID:2312523 12394952 PDE2A phosphodiesterase 2A gene DOID:9005603 Muscle Hypotonia ISO RGD:730957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:32467598 12394952 PDE2A phosphodiesterase 2A gene DOID:9007371 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES ISO RGD:730957 D RGD:7240710 20210217 OMIM 12394952 PDE2A phosphodiesterase 2A gene DOID:9007371 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES ISO RGD:730957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with paroxysmal dyskinesia or seizures PMID:25741868|PMID:28492532|PMID:29392776|PMID:32196122|PMID:32467598 12394952 PDE2A phosphodiesterase 2A gene DOID:9008939 Breast Neoplasms ISO RGD:730957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12972520 12394987 HPCAL1 hippocalcin like 1 gene DOID:630 genetic disease ISO RGD:1348150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12394987 HPCAL1 hippocalcin like 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12395004 MPO myeloperoxidase gene DOID:0050777 Joubert syndrome ISO RGD:1346384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12395004 MPO myeloperoxidase gene DOID:0060071 pre-malignant neoplasm ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14580687 12395004 MPO myeloperoxidase gene DOID:0060180 colitis ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23810507 12395004 MPO myeloperoxidase gene DOID:0080162 lupus nephritis susceptibility ISO RGD:1346384 D RGD:9068941 20200609 RGD DNA:polymorphism: :−463G > A (human) PMID:17896805|REF_RGD_ID:7174701 12395004 MPO myeloperoxidase gene DOID:0080348 Alzheimer's disease 1 susceptibility ISO RGD:1346384 D RGD:7240710 20230517 OMIM 12395004 MPO myeloperoxidase gene DOID:0081292 traumatic brain injury ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25668593 12395004 MPO myeloperoxidase gene DOID:10247 pleurisy ISO RGD:10916 D RGD:9068941 20200609 RGD protein:increased activity:lung PMID:11577999|REF_RGD_ID:5130991 12395004 MPO myeloperoxidase gene DOID:1059 intellectual disability ISO RGD:1346384 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12395004 MPO myeloperoxidase gene DOID:10652 Alzheimer's disease ISO RGD:1346384 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer disease, susceptibility to PMID:11087769|PMID:12915675|PMID:15023809|PMID:15108282|PMID:17304047|PMID:24033266|PMID:25741868|PMID:26764160|PMID:26822949|PMID:30487145|PMID:31980526|PMID:32531373|PMID:32758447|PMID:32758448|PMID:34426522|PMID:6260268|PMID:9766845 12395004 MPO myeloperoxidase gene DOID:11054 urinary bladder cancer ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14729580 12395004 MPO myeloperoxidase gene DOID:1252 trichuriasis ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864659 12395004 MPO myeloperoxidase gene DOID:1287 cardiovascular system disease ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19326902 12395004 MPO myeloperoxidase gene DOID:1287 cardiovascular system disease ISO RGD:1346384 D RGD:9068941 20200609 RGD associated with Kidney Failure, chronic; DNA:SNP: :-463G>A (human) PMID:12694338|REF_RGD_ID:6909169 12395004 MPO myeloperoxidase gene DOID:1324 lung cancer ISO RGD:1346384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer, protection against, in smokers PMID:11087769|PMID:12915675|PMID:15023809|PMID:17304047 12395004 MPO myeloperoxidase gene DOID:13619 extrahepatic cholestasis ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 12395004 MPO myeloperoxidase gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19731237|PMID:23274713 12395004 MPO myeloperoxidase gene DOID:1470 major depressive disorder ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20471444 12395004 MPO myeloperoxidase gene DOID:1485 cystic fibrosis ISO RGD:1346384 D RGD:9068941 20200609 RGD PMID:20954832|REF_RGD_ID:5130986 12395004 MPO myeloperoxidase gene DOID:1485 cystic fibrosis severity ISO RGD:1346384 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-463G>A (human) PMID:16883063|REF_RGD_ID:5130968 12395004 MPO myeloperoxidase gene DOID:1555 urticaria ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18204966 12395004 MPO myeloperoxidase gene DOID:1591 renovascular hypertension ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased activity:heart, brain, kidney PMID:19549002|REF_RGD_ID:7174698 12395004 MPO myeloperoxidase gene DOID:161 keratosis ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14580687 12395004 MPO myeloperoxidase gene DOID:161 keratosis susceptibility ISO RGD:1346384 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-463G>T(rs2333227)(human) PMID:14580687|REF_RGD_ID:9479152 12395004 MPO myeloperoxidase gene DOID:1679 cystitis ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased activity:bladder PMID:19418724|REF_RGD_ID:7174704 12395004 MPO myeloperoxidase gene DOID:1793 pancreatic cancer resistance ISO RGD:1346384 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-463G>A (human) PMID:18205184|REF_RGD_ID:2317406 12395004 MPO myeloperoxidase gene DOID:1936 atherosclerosis ISO RGD:1346384 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33861588 12395004 MPO myeloperoxidase gene DOID:2316 brain ischemia ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19417757 12395004 MPO myeloperoxidase gene DOID:2841 asthma ISO RGD:1346384 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:10731862|REF_RGD_ID:5130994 12395004 MPO myeloperoxidase gene DOID:2841 asthma susceptibility ISO RGD:1346384 D RGD:9068941 20200609 RGD DNA:polymorphism: :−463G > A (human) PMID:19544176|REF_RGD_ID:5130989 12395004 MPO myeloperoxidase gene DOID:2921 glomerulonephritis ISO RGD:10916 D RGD:9068941 20200609 RGD PMID:17267745|REF_RGD_ID:7174702 12395004 MPO myeloperoxidase gene DOID:2921 glomerulonephritis disease_progression ISO RGD:1346384 D RGD:9068941 20200609 RGD PMID:19238910|REF_RGD_ID:7174705 12395004 MPO myeloperoxidase gene DOID:3021 acute kidney failure ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 12395004 MPO myeloperoxidase gene DOID:3021 acute kidney failure ISO RGD:1346384 D RGD:9068941 20200609 RGD DNA:haplotye: : PMID:22739978|REF_RGD_ID:6909168 12395004 MPO myeloperoxidase gene DOID:3021 acute kidney failure ISO RGD:1592081 D RGD:9068941 20200609 RGD PMID:19793022|REF_RGD_ID:6909185 12395004 MPO myeloperoxidase gene DOID:3082 interstitial lung disease ISO RGD:1346384 D RGD:9068941 20200609 RGD associated with Sclerodema, systemic; protein:increased expression:bronchoalveolar lavage fluid PMID:17643278|REF_RGD_ID:5130207 12395004 MPO myeloperoxidase gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased activity:plasma PMID:19491038|REF_RGD_ID:5130997 12395004 MPO myeloperoxidase gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1346384 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:10917466|REF_RGD_ID:5130993 12395004 MPO myeloperoxidase gene DOID:4989 pancreatitis ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16440434 12395004 MPO myeloperoxidase gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1346384 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-463G>A( rs2333227)(human) PMID:19731237|REF_RGD_ID:26923907 12395004 MPO myeloperoxidase gene DOID:557 kidney disease ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19913069 12395004 MPO myeloperoxidase gene DOID:630 genetic disease ISO RGD:1346384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395004 MPO myeloperoxidase gene DOID:684 hepatocellular carcinoma ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19731237 12395004 MPO myeloperoxidase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346384 D RGD:9068941 20200609 RGD associated with liver cirrhosis with Hepatitis C;DNA:SNP:promoter:-463G>A(human) PMID:21907168|REF_RGD_ID:27095879 12395004 MPO myeloperoxidase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1346384 D RGD:9068941 20200609 RGD associated with liver cirrhosis; DNA:SNP:promoter:-463G>A( rs2333227)(human) PMID:19731237|REF_RGD_ID:26923907 12395004 MPO myeloperoxidase gene DOID:7148 rheumatoid arthritis ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22450443|PMID:26001728 12395004 MPO myeloperoxidase gene DOID:783 end stage renal disease disease_progression ISO RGD:1346384 D RGD:9068941 20200609 RGD PMID:20638167|REF_RGD_ID:6909184 12395004 MPO myeloperoxidase gene DOID:850 lung disease ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23451061 12395004 MPO myeloperoxidase gene DOID:850 lung disease ISO RGD:1346384 D RGD:9068941 20200609 RGD acute lung injury PMID:19483113|REF_RGD_ID:5130962 12395004 MPO myeloperoxidase gene DOID:8577 ulcerative colitis ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20380826|PMID:22119283|PMID:24055189 12395004 MPO myeloperoxidase gene DOID:865 vasculitis ISO RGD:1346384 D RGD:9068941 20200609 RGD microscopic polyangiitis PMID:21071471|REF_RGD_ID:5130969 12395004 MPO myeloperoxidase gene DOID:874 bacterial pneumonia ISO RGD:1346384 D RGD:9068941 20200609 RGD protein:increased activity:bronchoalveolar lavage Fluid: PMID:11269653|REF_RGD_ID:5130992 12395004 MPO myeloperoxidase gene DOID:9000039 Spinal Cord Injuries ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased activity:spinal cord PMID:22986158|REF_RGD_ID:6909148 12395004 MPO myeloperoxidase gene DOID:9000099 Experimental Colitis treatment ISO RGD:1592081 D RGD:9068941 20220623 RGD PMID:29572553|REF_RGD_ID:152995414 12395004 MPO myeloperoxidase gene DOID:9000998 Brain Injuries ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 12395004 MPO myeloperoxidase gene DOID:9001600 Wounds and Injuries ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 12395004 MPO myeloperoxidase gene DOID:9001708 Hemorrhagic Shock ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 12395004 MPO myeloperoxidase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 12395004 MPO myeloperoxidase gene DOID:9002315 Kidney Calculi ISO RGD:1346384 D RGD:9068941 20200609 RGD protein:increased activity:blood PMID:18022927|REF_RGD_ID:7174700 12395004 MPO myeloperoxidase gene DOID:9002457 Experimental Arthritis ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22450443 12395004 MPO myeloperoxidase gene DOID:9002575 Myeloperoxidase Deficiency IAGP D RGD:12801476 20210603 OMIA Myeloperoxidase deficiency PMID:27296514 12395004 MPO myeloperoxidase gene DOID:9002575 Myeloperoxidase Deficiency ISO RGD:1346384 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myeloperoxidase deficiency PMID:14980716|PMID:15108282|PMID:17017121|PMID:17384005|PMID:17650507|PMID:18273043|PMID:24033266|PMID:25741868|PMID:26764160|PMID:26822949|PMID:27013444|PMID:28492532|PMID:30487145|PMID:31589614|PMID:31980526|PMID:32531373|PMID:32758447|PMID:32758448|PMID:33531667|PMID:34426522|PMID:6260268|PMID:7904599|PMID:8142659|PMID:8621627|PMID:9354683|PMID:9468285|PMID:9507022|PMID:9637725|PMID:9766845 12395004 MPO myeloperoxidase gene DOID:9002575 Myeloperoxidase Deficiency susceptibility ISO RGD:1346384 D RGD:7240710 20230517 OMIM 12395004 MPO myeloperoxidase gene DOID:9002669 Hypoxia ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8552434 12395004 MPO myeloperoxidase gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1592081 D RGD:9068941 20220616 RGD protein:increased activity:brain: PMID:25720338|REF_RGD_ID:152995398 12395004 MPO myeloperoxidase gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis disease_progression ISO RGD:1346384 D RGD:9068941 20200609 RGD PMID:23085883|REF_RGD_ID:7174703 12395004 MPO myeloperoxidase gene DOID:9004009 Reperfusion Injury ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10706834|PMID:12024109|PMID:16971220|PMID:19058328|PMID:20863214|PMID:8869312 12395004 MPO myeloperoxidase gene DOID:9004009 Reperfusion Injury ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased activity:lung PMID:21470877|REF_RGD_ID:5130958 12395004 MPO myeloperoxidase gene DOID:9004484 Sepsis ISO RGD:10916 D RGD:9068941 20200609 RGD PMID:18424617|REF_RGD_ID:5130966 12395004 MPO myeloperoxidase gene DOID:9004610 Acute Lung Injury ISO RGD:10916 D RGD:9068941 20200609 RGD associated with Kidney Reperfusion Injury; protein:increased activity:lung PMID:22092133|REF_RGD_ID:6909173 12395004 MPO myeloperoxidase gene DOID:9005172 Lung Neoplasms ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12111688 12395004 MPO myeloperoxidase gene DOID:9005236 Drug Eruptions ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18204966 12395004 MPO myeloperoxidase gene DOID:9005254 Systemic Candidiasis severity ISO RGD:10916 D RGD:9068941 20210108 RGD PMID:12085336|REF_RGD_ID:40903072 12395004 MPO myeloperoxidase gene DOID:9005372 Inflammation ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10407471|PMID:19066340|PMID:19326902|PMID:23371441|PMID:23451061 12395004 MPO myeloperoxidase gene DOID:9005463 Occupational Diseases ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15576619 12395004 MPO myeloperoxidase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388520 12395004 MPO myeloperoxidase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased activity:liver: PMID:18436980|REF_RGD_ID:2317971 12395004 MPO myeloperoxidase gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:1592081 D RGD:9068941 20200609 RGD PMID:20722568|REF_RGD_ID:6909183 12395004 MPO myeloperoxidase gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10916 D RGD:9068941 20200609 RGD PMID:18055546|REF_RGD_ID:7174699 12395004 MPO myeloperoxidase gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased activity:kidney PMID:22950848|REF_RGD_ID:6909167 12395004 MPO myeloperoxidase gene DOID:9006928 Viral Bronchiolitis ISO RGD:1346384 D RGD:9068941 20200609 RGD PMID:7841728|REF_RGD_ID:5130995 12395004 MPO myeloperoxidase gene DOID:9007102 Myocardial Ischemia ISO RGD:1346384 D RGD:9068941 20200609 RGD Acute Coronary Syndrome; protein:increased expression:plasma PMID:21226709|REF_RGD_ID:5130961 12395004 MPO myeloperoxidase gene DOID:9007156 Enteritis ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased activity:intestine mucosa PMID:20950601|REF_RGD_ID:6909182 12395004 MPO myeloperoxidase gene DOID:9007651 Chronic Bronchitis ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11798689|REF_RGD_ID:5130990 12395004 MPO myeloperoxidase gene DOID:9007730 Burns ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11996850 12395004 MPO myeloperoxidase gene DOID:9007730 Burns ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased activity:kidney, lung PMID:22356815|REF_RGD_ID:6909170 12395004 MPO myeloperoxidase gene DOID:936 brain disease ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23593274 12395004 MPO myeloperoxidase gene DOID:9362 status asthmaticus ISO RGD:1346384 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:10731862|REF_RGD_ID:5130994 12395030 MANBAL mannosidase beta like gene DOID:2234 focal epilepsy ISO RGD:1353788 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12395030 MANBAL mannosidase beta like gene DOID:630 genetic disease ISO RGD:1353788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395030 MANBAL mannosidase beta like gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1353788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 12395045 SNRNP40 small nuclear ribonucleoprotein U5 subunit 40 gene DOID:630 genetic disease ISO RGD:1606327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395081 C1H19orf33 chromosome 1 C19orf33 homolog gene DOID:4905 pancreatic carcinoma ISO RGD:1354281 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35142956 12395081 C1H19orf33 chromosome 1 C19orf33 homolog gene DOID:630 genetic disease ISO RGD:1354281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395081 C1H19orf33 chromosome 1 C19orf33 homolog gene DOID:9000918 Disease Progression ISO RGD:1354281 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35142956 12395099 YTHDC1 YTH N6-methyladenosine RNA binding protein C1 gene DOID:630 genetic disease ISO RGD:732940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395099 YTHDC1 YTH N6-methyladenosine RNA binding protein C1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:732940 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12395127 NDUFA12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:0112087 nuclear type mitochondrial complex I deficiency 23 ISO RGD:1603389 D RGD:7240710 20190315 OMIM 12395127 NDUFA12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:0112087 nuclear type mitochondrial complex I deficiency 23 ISO RGD:1603389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 PMID:21617257|PMID:25741868|PMID:28454995|PMID:28492532|PMID:32341820|PMID:33715266|PMID:35141356 12395127 NDUFA12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:3652 Leigh disease ISO RGD:1603389 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:25741868|PMID:28492532|PMID:35141356 12395127 NDUFA12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:630 genetic disease ISO RGD:1603389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12395127 NDUFA12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1603389 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:35141356 12395135 LUC7L2 LUC7-like 2 (S. cerevisiae) gene DOID:0080690 RASopathy ISO RGD:1318546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12395135 LUC7L2 LUC7-like 2 (S. cerevisiae) gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12395135 LUC7L2 LUC7-like 2 (S. cerevisiae) gene DOID:630 genetic disease ISO RGD:1318546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395171 LOC476047 solute carrier family 22 member 9 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1343950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12395171 LOC476047 solute carrier family 22 member 9 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1343950 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 12395171 LOC476047 solute carrier family 22 member 9 gene DOID:1059 intellectual disability ISO RGD:1343950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12395171 LOC476047 solute carrier family 22 member 9 gene DOID:3883 Lynch syndrome ISO RGD:1343950 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 12395171 LOC476047 solute carrier family 22 member 9 gene DOID:630 genetic disease ISO RGD:1343950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395192 RNF114 ring finger protein 114 gene DOID:12336 male infertility ISO RGD:1349716 D RGD:9068941 20200609 RGD mRNA:decreased expression:testes (human) PMID:12621547|REF_RGD_ID:1303956 12395192 RNF114 ring finger protein 114 gene DOID:630 genetic disease ISO RGD:1349716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395192 RNF114 ring finger protein 114 gene DOID:8893 psoriasis ISO RGD:1349716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953190 12395202 EIF2B1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:0050777 Joubert syndrome ISO RGD:733321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12395202 EIF2B1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:733321 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:11835386|PMID:15776425|PMID:16199547|PMID:16807905|PMID:17576681|PMID:18263758|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26285592|PMID:28492532|PMID:31882561|PMID:32865661|PMID:33334879|PMID:34663487|PMID:9536098 12395202 EIF2B1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:10907 microcephaly ISO RGD:733321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12395202 EIF2B1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:11832 visual epilepsy ISO RGD:733321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures 12395202 EIF2B1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:1826 epilepsy ISO RGD:733321 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12395202 EIF2B1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:3910 lung adenocarcinoma ISO RGD:733321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12395202 EIF2B1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:630 genetic disease ISO RGD:733321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12395202 EIF2B1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:9002704 Leukoencephalopathies ISO RGD:733321 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CACH/VWM syndrome PMID:11835386|PMID:15776425|PMID:16199547|PMID:16807905|PMID:17576681|PMID:18263758|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26285592|PMID:28492532|PMID:31882561|PMID:32865661|PMID:33334879|PMID:34663487|PMID:9536098 12395202 EIF2B1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:9005348 Leukoencephalopathy with Vanishing White Matter 1 ISO RGD:733321 D RGD:7240710 20230505 OMIM 12395202 EIF2B1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:9005348 Leukoencephalopathy with Vanishing White Matter 1 ISO RGD:733321 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1 PMID:11835386|PMID:15776425|PMID:16199547|PMID:16807905|PMID:17576681|PMID:18263758|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26285592|PMID:28492532|PMID:31882561|PMID:32865661|PMID:33334879|PMID:34663487|PMID:9536098 12395202 EIF2B1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:9006205 Animal Disease Models ISO RGD:733321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12395216 PTRH1 peptidyl-tRNA hydrolase 1 homolog gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320908 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12395216 PTRH1 peptidyl-tRNA hydrolase 1 homolog gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1320908 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 12395216 PTRH1 peptidyl-tRNA hydrolase 1 homolog gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1320908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12395216 PTRH1 peptidyl-tRNA hydrolase 1 homolog gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1320908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 12395216 PTRH1 peptidyl-tRNA hydrolase 1 homolog gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320908 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 12395216 PTRH1 peptidyl-tRNA hydrolase 1 homolog gene DOID:630 genetic disease ISO RGD:1320908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395216 PTRH1 peptidyl-tRNA hydrolase 1 homolog gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12395225 TIFAB TIFA inhibitor gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:2291818 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12395225 TIFAB TIFA inhibitor gene DOID:630 genetic disease ISO RGD:2291818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395225 TIFAB TIFA inhibitor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2291818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12395225 TIFAB TIFA inhibitor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2291818 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12395234 MAST2 microtubule associated serine/threonine kinase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12395234 MAST2 microtubule associated serine/threonine kinase 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12395234 MAST2 microtubule associated serine/threonine kinase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12395234 MAST2 microtubule associated serine/threonine kinase 2 gene DOID:13938 amenorrhea ISO RGD:1312089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12395234 MAST2 microtubule associated serine/threonine kinase 2 gene DOID:630 genetic disease ISO RGD:1312089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395283 MTMR14 myotubularin related protein 14 gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:1605051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF PMID:17008356|PMID:19590496|PMID:25741868|PMID:28492532 12395283 MTMR14 myotubularin related protein 14 gene DOID:0111223 centronuclear myopathy 1 ISO RGD:1605051 D RGD:7240710 20180130 OMIM 12395283 MTMR14 myotubularin related protein 14 gene DOID:2843 long QT syndrome ISO RGD:1605051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12395283 MTMR14 myotubularin related protein 14 gene DOID:4001 ovarian carcinoma ISO RGD:1605051 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:30365097 12395283 MTMR14 myotubularin related protein 14 gene DOID:422 congenital structural myopathy ISO RGD:1605051 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:17008356|PMID:25741868|PMID:28492532 12395283 MTMR14 myotubularin related protein 14 gene DOID:630 genetic disease ISO RGD:1605051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12395283 MTMR14 myotubularin related protein 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12395283 MTMR14 myotubularin related protein 14 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1605051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12395310 SLC2A11 solute carrier family 2 member 11 gene DOID:0070045 Coffin-Siris syndrome 3 ISO RGD:1354509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 12395310 SLC2A11 solute carrier family 2 member 11 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1354509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 12395310 SLC2A11 solute carrier family 2 member 11 gene DOID:1826 epilepsy ISO RGD:1354509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12395310 SLC2A11 solute carrier family 2 member 11 gene DOID:5419 schizophrenia ISO RGD:1354509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12395310 SLC2A11 solute carrier family 2 member 11 gene DOID:630 genetic disease ISO RGD:1354509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395339 MICAL3 microtubule associated monooxygenase, calponin and LIM domain containing 3 gene DOID:0080482 peroxisome biogenesis disorder 7A ISO RGD:1603016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A (Zellweger) PMID:28492532 12395339 MICAL3 microtubule associated monooxygenase, calponin and LIM domain containing 3 gene DOID:0111996 immunodeficiency 51 ISO RGD:1603016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12395339 MICAL3 microtubule associated monooxygenase, calponin and LIM domain containing 3 gene DOID:11198 DiGeorge syndrome ISO RGD:1603016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 12395339 MICAL3 microtubule associated monooxygenase, calponin and LIM domain containing 3 gene DOID:630 genetic disease ISO RGD:1603016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395339 MICAL3 microtubule associated monooxygenase, calponin and LIM domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12395339 MICAL3 microtubule associated monooxygenase, calponin and LIM domain containing 3 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1603016 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12395405 HSPA12A heat shock protein family A (Hsp70) member 12A gene DOID:303 substance-related disorder ISO RGD:1313610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12395405 HSPA12A heat shock protein family A (Hsp70) member 12A gene DOID:630 genetic disease ISO RGD:1313610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395424 PLA2G4F phospholipase A2 group IVF gene DOID:2717 Bloom syndrome ISO RGD:1606120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12395424 PLA2G4F phospholipase A2 group IVF gene DOID:630 genetic disease ISO RGD:1606120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395424 PLA2G4F phospholipase A2 group IVF gene DOID:9256 colorectal cancer ISO RGD:1606120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12395448 ATP6V1A ATPase H+ transporting V1 subunit A gene DOID:0070129 autosomal recessive cutis laxa type IID ISO RGD:1323585 D RGD:7240710 20190315 OMIM 12395448 ATP6V1A ATPase H+ transporting V1 subunit A gene DOID:0070129 autosomal recessive cutis laxa type IID ISO RGD:1323585 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID PMID:24459010|PMID:25741868|PMID:28065471|PMID:28492532 12395448 ATP6V1A ATPase H+ transporting V1 subunit A gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1323585 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:25741868 12395448 ATP6V1A ATPase H+ transporting V1 subunit A gene DOID:0112275 developmental and epileptic encephalopathy 93 ISO RGD:1323585 D RGD:7240710 20190315 OMIM 12395448 ATP6V1A ATPase H+ transporting V1 subunit A gene DOID:0112275 developmental and epileptic encephalopathy 93 ISO RGD:1323585 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 | ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood, 3 PMID:23334411|PMID:25741868|PMID:28492532|PMID:29668857|PMID:35675510 12395448 ATP6V1A ATPase H+ transporting V1 subunit A gene DOID:630 genetic disease ISO RGD:1323585 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23334411|PMID:25741868|PMID:28492532|PMID:29668857 12395448 ATP6V1A ATPase H+ transporting V1 subunit A gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1323585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 12395448 ATP6V1A ATPase H+ transporting V1 subunit A gene DOID:9008582 Developmental Disease ISO RGD:1323585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12395448 ATP6V1A ATPase H+ transporting V1 subunit A gene DOID:936 brain disease ISO RGD:1323585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868 12395467 MRTFB myocardin related transcription factor B gene DOID:0060040 pervasive developmental disorder ISO RGD:1345947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20442744 12395467 MRTFB myocardin related transcription factor B gene DOID:0110848 xeroderma pigmentosum group F ISO RGD:1345947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group F PMID:28492532 12395467 MRTFB myocardin related transcription factor B gene DOID:630 genetic disease ISO RGD:1345947 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395497 RHBDF1 rhomboid 5 homolog 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1312890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 12395497 RHBDF1 rhomboid 5 homolog 1 gene DOID:630 genetic disease ISO RGD:1312890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395532 B4GALT6 beta-1,4-galactosyltransferase 6 gene DOID:1059 intellectual disability ISO RGD:737376 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12395532 B4GALT6 beta-1,4-galactosyltransferase 6 gene DOID:2377 multiple sclerosis ISO RGD:737376 D RGD:9068941 20200609 RGD mRNA:increased expression:white matter PMID:25216636|REF_RGD_ID:14390079 12395532 B4GALT6 beta-1,4-galactosyltransferase 6 gene DOID:630 genetic disease ISO RGD:737376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395532 B4GALT6 beta-1,4-galactosyltransferase 6 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:737377 D RGD:9068941 20200609 RGD mRNA:increased expression:astrocyte PMID:25216636|REF_RGD_ID:14390079 12395545 CFAP53 cilia and flagella associated protein 53 gene DOID:0050545 visceral heterotaxy ISO RGD:1344036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Situs ambiguus 12395545 CFAP53 cilia and flagella associated protein 53 gene DOID:1059 intellectual disability ISO RGD:1344036 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12395545 CFAP53 cilia and flagella associated protein 53 gene DOID:630 genetic disease ISO RGD:1344036 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12395545 CFAP53 cilia and flagella associated protein 53 gene DOID:758 situs inversus ISO RGD:1344036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 12395545 CFAP53 cilia and flagella associated protein 53 gene DOID:9003212 Visceral Heterotaxy 6, Autosomal ISO RGD:1344036 D RGD:7240710 20190315 OMIM 12395545 CFAP53 cilia and flagella associated protein 53 gene DOID:9003212 Visceral Heterotaxy 6, Autosomal ISO RGD:1344036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 6, autosomal PMID:17576681|PMID:22577226|PMID:25504577|PMID:25741868|PMID:26531781|PMID:28492532|PMID:9536098 12395545 CFAP53 cilia and flagella associated protein 53 gene DOID:9565 dextrocardia ISO RGD:1344036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dextrocardia PMID:26531781 12395545 CFAP53 cilia and flagella associated protein 53 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1344036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome 12395583 LYSMD1 LysM domain containing 1 gene DOID:0080422 Dravet syndrome ISO RGD:1603473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 12395583 LYSMD1 LysM domain containing 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12395583 LYSMD1 LysM domain containing 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12395583 LYSMD1 LysM domain containing 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12395583 LYSMD1 LysM domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1603473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12395583 LYSMD1 LysM domain containing 1 gene DOID:5812 MHC class II deficiency ISO RGD:1603473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12395583 LYSMD1 LysM domain containing 1 gene DOID:630 genetic disease ISO RGD:1603473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395583 LYSMD1 LysM domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12395590 ACSM5 acyl-CoA synthetase medium chain family member 5 gene DOID:630 genetic disease ISO RGD:1603027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395627 ELP6 elongator acetyltransferase complex subunit 6 gene DOID:630 genetic disease ISO RGD:1606547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395627 ELP6 elongator acetyltransferase complex subunit 6 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1606547 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12395639 ANGPT4 angiopoietin 4 gene DOID:630 genetic disease ISO RGD:1316792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395659 CELF4 CUGBP Elav-like family member 4 gene DOID:1059 intellectual disability ISO RGD:1316936 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12395659 CELF4 CUGBP Elav-like family member 4 gene DOID:2661 myoepithelioma ISO RGD:1316936 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12395659 CELF4 CUGBP Elav-like family member 4 gene DOID:630 genetic disease ISO RGD:1316936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14973222 12395676 HAS1 hyaluronan synthase 1 gene DOID:2661 myoepithelioma ISO RGD:1343910 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12395676 HAS1 hyaluronan synthase 1 gene DOID:399 tuberculosis ISO RGD:1552209 D RGD:9068941 20200609 RGD PMID:19876387|REF_RGD_ID:9588638 12395676 HAS1 hyaluronan synthase 1 gene DOID:630 genetic disease ISO RGD:1343910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395676 HAS1 hyaluronan synthase 1 gene DOID:6432 pulmonary hypertension ISO RGD:708528 D RGD:9068941 20200609 RGD PMID:19915162|REF_RGD_ID:9588633 12395676 HAS1 hyaluronan synthase 1 gene DOID:9003936 Cardiomegaly ISO RGD:708528 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:18196276|REF_RGD_ID:2289364 12395676 HAS1 hyaluronan synthase 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:708528 D RGD:9068941 20200609 RGD PMID:22529164|REF_RGD_ID:9588636 12395684 SHE Src homology 2 domain containing E gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1605584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12395684 SHE Src homology 2 domain containing E gene DOID:0060257 dyschromatosis symmetrica hereditaria ISO RGD:1605584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities PMID:22974014|PMID:28492532 12395684 SHE Src homology 2 domain containing E gene DOID:0111940 immunodeficiency 42 ISO RGD:1605584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12395684 SHE Src homology 2 domain containing E gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12395684 SHE Src homology 2 domain containing E gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 12395684 SHE Src homology 2 domain containing E gene DOID:1540 parathyroid carcinoma ISO RGD:1605584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12395684 SHE Src homology 2 domain containing E gene DOID:5812 MHC class II deficiency ISO RGD:1605584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12395684 SHE Src homology 2 domain containing E gene DOID:630 genetic disease ISO RGD:1605584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395684 SHE Src homology 2 domain containing E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12395694 CEP43 centrosomal protein 43 gene DOID:630 genetic disease ISO RGD:1313011 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395709 TAS2R7 taste 2 receptor member 7 gene DOID:630 genetic disease ISO RGD:1347137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395728 TEAD3 TEA domain transcription factor 3 gene DOID:0050553 JMP syndrome ISO RGD:1323117 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12395728 TEAD3 TEA domain transcription factor 3 gene DOID:0110381 retinitis pigmentosa 14 ISO RGD:1323117 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 14 PMID:25741868|PMID:26427415|PMID:28492532|PMID:9462750 12395728 TEAD3 TEA domain transcription factor 3 gene DOID:630 genetic disease ISO RGD:1323117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395728 TEAD3 TEA domain transcription factor 3 gene DOID:8501 fundus dystrophy ISO RGD:1323117 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26427415|PMID:28492532|PMID:9462750 12395848 NUDT4 nudix hydrolase 4 gene DOID:630 genetic disease ISO RGD:1320353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395859 USP44 ubiquitin specific peptidase 44 gene DOID:630 genetic disease ISO RGD:1317864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395884 LOC477508 cytochrome c oxidase subunit 6A1, mitochondrial gene DOID:0110203 Charcot-Marie-Tooth disease recessive intermediate D ISO RGD:735899 D RGD:7240710 20211006 OMIM 12395884 LOC477508 cytochrome c oxidase subunit 6A1, mitochondrial gene DOID:0110203 Charcot-Marie-Tooth disease recessive intermediate D ISO RGD:735899 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate D PMID:25152455|PMID:25741868|PMID:26302975|PMID:28492532 12395884 LOC477508 cytochrome c oxidase subunit 6A1, mitochondrial gene DOID:574 peripheral nervous system disease ISO RGD:735899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:16199547|PMID:28492532 12395884 LOC477508 cytochrome c oxidase subunit 6A1, mitochondrial gene DOID:630 genetic disease ISO RGD:735899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12395884 LOC477508 cytochrome c oxidase subunit 6A1, mitochondrial gene DOID:870 neuropathy ISO RGD:735899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:16199547|PMID:28492532 12395891 UPP1 uridine phosphorylase 1 gene DOID:0060496 respiratory allergy ISO RGD:1313669 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:24211530 12395891 UPP1 uridine phosphorylase 1 gene DOID:2843 long QT syndrome ISO RGD:1313669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12395891 UPP1 uridine phosphorylase 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1313669 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 12395891 UPP1 uridine phosphorylase 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:1305566 D RGD:9068941 20210122 RGD mRNA, protein:increased expression:brain (rat) PMID:18457515|REF_RGD_ID:2317094 12395891 UPP1 uridine phosphorylase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12395910 SLC4A9 solute carrier family 4 member 9 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:730837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12395910 SLC4A9 solute carrier family 4 member 9 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:730837 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12395910 SLC4A9 solute carrier family 4 member 9 gene DOID:630 genetic disease ISO RGD:730837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395910 SLC4A9 solute carrier family 4 member 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12395910 SLC4A9 solute carrier family 4 member 9 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:730837 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12395946 ELF4 E74 like ETS transcription factor 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12395946 ELF4 E74 like ETS transcription factor 4 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1351734 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:24357419|PMID:28492532 12395946 ELF4 E74 like ETS transcription factor 4 gene DOID:12849 autistic disorder ISO RGD:1351734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12395946 ELF4 E74 like ETS transcription factor 4 gene DOID:630 genetic disease ISO RGD:1351734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12395946 ELF4 E74 like ETS transcription factor 4 gene DOID:9005800 AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 ISO RGD:1351734 D RGD:7240710 20220615 OMIM 12395946 ELF4 E74 like ETS transcription factor 4 gene DOID:9005800 AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 ISO RGD:1351734 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 PMID:25741868|PMID:34326534|PMID:35266071 12395971 EPHA6 EPH receptor A6 gene DOID:0110125 Bardet-Biedl syndrome 3 ISO RGD:1605546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 3 PMID:15258860|PMID:19858128|PMID:20142850|PMID:22334370|PMID:27486776|PMID:28492532|PMID:31736247 12395971 EPHA6 EPH receptor A6 gene DOID:630 genetic disease ISO RGD:1605546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396008 TSEN15 tRNA splicing endonuclease subunit 15 gene DOID:0112329 pontocerebellar hypoplasia type 2F ISO RGD:1318440 D RGD:7240710 20190315 OMIM 12396008 TSEN15 tRNA splicing endonuclease subunit 15 gene DOID:0112329 pontocerebellar hypoplasia type 2F ISO RGD:1318440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 2F PMID:25558065|PMID:25741868|PMID:27392077 12396008 TSEN15 tRNA splicing endonuclease subunit 15 gene DOID:1540 parathyroid carcinoma ISO RGD:1318440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12396008 TSEN15 tRNA splicing endonuclease subunit 15 gene DOID:630 genetic disease ISO RGD:1318440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396008 TSEN15 tRNA splicing endonuclease subunit 15 gene DOID:9008086 Developmental Disabilities ISO RGD:1318440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:27392077 12396008 TSEN15 tRNA splicing endonuclease subunit 15 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12396030 TSTD3 thiosulfate sulfurtransferase like domain containing 3 gene DOID:0081169 Leber congenital amaurosis 19 ISO RGD:6769372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 19 PMID:25741868|PMID:30573563 12396030 TSTD3 thiosulfate sulfurtransferase like domain containing 3 gene DOID:630 genetic disease ISO RGD:6769372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396030 TSTD3 thiosulfate sulfurtransferase like domain containing 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:6769372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12396030 TSTD3 thiosulfate sulfurtransferase like domain containing 3 gene DOID:9007661 Dwarfism ISO RGD:6769372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12396040 ANKRD16 ankyrin repeat domain 16 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1322851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12396040 ANKRD16 ankyrin repeat domain 16 gene DOID:5419 schizophrenia ISO RGD:1322851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12396040 ANKRD16 ankyrin repeat domain 16 gene DOID:630 genetic disease ISO RGD:1322851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396054 KIFAP3 kinesin associated protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1313072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12396054 KIFAP3 kinesin associated protein 3 gene DOID:630 genetic disease ISO RGD:1313072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396054 KIFAP3 kinesin associated protein 3 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1313072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12396054 KIFAP3 kinesin associated protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12396098 ZFP42 ZFP42 zinc finger protein gene DOID:12849 autistic disorder ISO RGD:1606971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12396098 ZFP42 ZFP42 zinc finger protein gene DOID:2229 factor XI deficiency ISO RGD:1606971 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:34355501 12396098 ZFP42 ZFP42 zinc finger protein gene DOID:630 genetic disease ISO RGD:1606971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396098 ZFP42 ZFP42 zinc finger protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12396172 MAOA monoamine oxidase A gene DOID:0050771 pheochromocytoma ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22569243 12396172 MAOA monoamine oxidase A gene DOID:0060041 autism spectrum disorder ISO RGD:735751 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs6323, rs1801291, rs3027407 (human) PMID:24356376|REF_RGD_ID:11535982 12396172 MAOA monoamine oxidase A gene DOID:0060693 Brunner syndrome ISO RGD:735751 D RGD:7240710 20180130 OMIM 12396172 MAOA monoamine oxidase A gene DOID:0060693 Brunner syndrome ISO RGD:735751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brunner syndrome PMID:11700166|PMID:17296899|PMID:17576681|PMID:20340138|PMID:22382802|PMID:24169519|PMID:25741868|PMID:25807999|PMID:28492532|PMID:30452590|PMID:8211186|PMID:9536098 12396172 MAOA monoamine oxidase A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12396172 MAOA monoamine oxidase A gene DOID:0080000 muscular disease ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15946989 12396172 MAOA monoamine oxidase A gene DOID:0080600 COVID-19 ISO RGD:735751 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12396172 MAOA monoamine oxidase A gene DOID:1059 intellectual disability ISO RGD:735751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12396172 MAOA monoamine oxidase A gene DOID:10652 Alzheimer's disease ISO RGD:735751 D RGD:9068941 20200609 RGD PMID:1627256|REF_RGD_ID:10046060 12396172 MAOA monoamine oxidase A gene DOID:10939 antisocial personality disorder ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12161658|PMID:18212819|PMID:8503438 12396172 MAOA monoamine oxidase A gene DOID:12849 autistic disorder ISO RGD:735751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12396172 MAOA monoamine oxidase A gene DOID:12858 Huntington's disease ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21075085 12396172 MAOA monoamine oxidase A gene DOID:13413 hepatic encephalopathy ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10206825|PMID:10564534|PMID:9048767 12396172 MAOA monoamine oxidase A gene DOID:14330 Parkinson's disease ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17449559 12396172 MAOA monoamine oxidase A gene DOID:150 disease of mental health ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22340208 12396172 MAOA monoamine oxidase A gene DOID:1561 cognitive disorder ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24402517 12396172 MAOA monoamine oxidase A gene DOID:1574 alcohol use disorder susceptibility ISO RGD:735751 D RGD:9068941 20200609 RGD PMID:15900229|REF_RGD_ID:1600720 12396172 MAOA monoamine oxidase A gene DOID:289 endometriosis ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12396172 MAOA monoamine oxidase A gene DOID:594 panic disorder ISO RGD:735751 D RGD:9068941 20200609 RGD PMID:15670397|REF_RGD_ID:1600723 12396172 MAOA monoamine oxidase A gene DOID:630 genetic disease ISO RGD:735751 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12396172 MAOA monoamine oxidase A gene DOID:6364 migraine no_association ISO RGD:735751 D RGD:9068941 20200609 RGD PMID:15088153|REF_RGD_ID:1600725 12396172 MAOA monoamine oxidase A gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22340208 12396172 MAOA monoamine oxidase A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12396172 MAOA monoamine oxidase A gene DOID:9004797 Fetal Nutrition Disorders ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22340208 12396172 MAOA monoamine oxidase A gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8503438 12396172 MAOA monoamine oxidase A gene DOID:9006024 Hypotension ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11834493 12396172 MAOA monoamine oxidase A gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:735751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:25972376|PMID:28492532 12396172 MAOA monoamine oxidase A gene DOID:9007996 End Stage Liver Disease ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15025246 12396190 DNAI1 dynein axonemal intermediate chain 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1346895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:10577904|PMID:11231901|PMID:16199547|PMID:16858015|PMID:17576681|PMID:18434704|PMID:18492703|PMID:19300481|PMID:21143860|PMID:21270641|PMID:22416021|PMID:23477994|PMID:24033266|PMID:24498942|PMID:24912412|PMID:25741868|PMID:25802884|PMID:26918822|PMID:28152038|PMID:28492532|PMID:28939216|PMID:28952366|PMID:29363216|PMID:30067075|PMID:30868567|PMID:31589614|PMID:33032373|PMID:9536098 12396190 DNAI1 dynein axonemal intermediate chain 1 gene DOID:0050144 Kartagener syndrome susceptibility ISO RGD:1346895 D RGD:9068941 20200609 RGD DNA:missense mutation, insertion, deletion:exon, intron:p.G515S PMID:11231901|REF_RGD_ID:1601083 12396190 DNAI1 dynein axonemal intermediate chain 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1556874 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 12396190 DNAI1 dynein axonemal intermediate chain 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1346895 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12396190 DNAI1 dynein axonemal intermediate chain 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1346895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12396190 DNAI1 dynein axonemal intermediate chain 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1346895 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12396190 DNAI1 dynein axonemal intermediate chain 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:1346895 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12396190 DNAI1 dynein axonemal intermediate chain 1 gene DOID:0110594 primary ciliary dyskinesia 1 ISO RGD:1346895 D RGD:7240710 20200226 OMIM 12396190 DNAI1 dynein axonemal intermediate chain 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1346895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12396190 DNAI1 dynein axonemal intermediate chain 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1346895 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12396190 DNAI1 dynein axonemal intermediate chain 1 gene DOID:12336 male infertility ISO RGD:1346895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility PMID:25741868|PMID:28492532 12396190 DNAI1 dynein axonemal intermediate chain 1 gene DOID:5223 infertility ISO RGD:1346895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infertility PMID:25741868|PMID:28492532 12396190 DNAI1 dynein axonemal intermediate chain 1 gene DOID:630 genetic disease ISO RGD:1346895 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10577904|PMID:11231901|PMID:16858015|PMID:17576681|PMID:18434704|PMID:21143860|PMID:23477994|PMID:24033266|PMID:25741868|PMID:26918822|PMID:28492532|PMID:29363216|PMID:30067075|PMID:9536098 12396190 DNAI1 dynein axonemal intermediate chain 1 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1346895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12396190 DNAI1 dynein axonemal intermediate chain 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1346895 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:10577904|PMID:11231901|PMID:11713099|PMID:16199547|PMID:16858015|PMID:17576681|PMID:18434704|PMID:18492703|PMID:19300481|PMID:19675306|PMID:21143860|PMID:21270641|PMID:23477994|PMID:24033266|PMID:24498942|PMID:25741868|PMID:25802884|PMID:26918822|PMID:28152038|PMID:28492532|PMID:28939216|PMID:28952366|PMID:29095814|PMID:29363216|PMID:30067075|PMID:30300419|PMID:30868567|PMID:31589614|PMID:31650533|PMID:31772028|PMID:33032373|PMID:33131162|PMID:33715250|PMID:34445527|PMID:9536098 12396190 DNAI1 dynein axonemal intermediate chain 1 gene DOID:9870 galactosemia ISO RGD:1346895 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12396233 AARS2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1321623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:28492532 12396233 AARS2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1321623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Iron accumulation in brain PMID:32581362 12396233 AARS2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:0111479 combined oxidative phosphorylation deficiency 8 ISO RGD:1321623 D RGD:7240710 20180130 OMIM 12396233 AARS2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:0111479 combined oxidative phosphorylation deficiency 8 ISO RGD:1321623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC MITOCHONDRIAL, FATAL INFANTILE | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8 PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27734837|PMID:27749956|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:29749055|PMID:29971983|PMID:30054184|PMID:30285085|PMID:30819764|PMID:31099476|PMID:31106991|PMID:31885218|PMID:35305867 12396233 AARS2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1321623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27734837|PMID:27749956|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:29749055|PMID:29971983|PMID:30285085|PMID:31099476|PMID:31885218|PMID:32080176|PMID:32319008|PMID:32581362|PMID:35305867 12396233 AARS2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:9000096 Lung Agenesis ISO RGD:1321623 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pulmonary hypoplasia PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:29971983|PMID:30285085|PMID:30819764|PMID:31106991 12396233 AARS2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:9006658 Progressive Leukoencephalopathy, with Ovarian Failure ISO RGD:1321623 D RGD:7240710 20180130 OMIM 12396233 AARS2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:9006658 Progressive Leukoencephalopathy, with Ovarian Failure ISO RGD:1321623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy, progressive, with ovarian failure PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27734837|PMID:27749956|PMID:28492532|PMID:29440775|PMID:29749055|PMID:29971983|PMID:30285085|PMID:30819764|PMID:31099476|PMID:31885218|PMID:33972171|PMID:35084689|PMID:35305867 12396259 ZBTB24 zinc finger and BTB domain containing 24 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1315856 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 12396259 ZBTB24 zinc finger and BTB domain containing 24 gene DOID:0090009 immunodeficiency-centromeric instability-facial anomalies syndrome 2 ISO RGD:1315856 D RGD:7240710 20180130 OMIM 12396259 ZBTB24 zinc finger and BTB domain containing 24 gene DOID:0090009 immunodeficiency-centromeric instability-facial anomalies syndrome 2 ISO RGD:1315856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 2 PMID:16199547|PMID:17576681|PMID:21596365|PMID:22786748|PMID:25330735|PMID:25741868|PMID:28128455|PMID:28492532|PMID:28518168|PMID:29023266|PMID:29255178|PMID:30010917|PMID:30511102|PMID:30719684|PMID:30987377|PMID:31066130|PMID:31130284|PMID:32461654|PMID:33995370|PMID:9536098 12396259 ZBTB24 zinc finger and BTB domain containing 24 gene DOID:630 genetic disease ISO RGD:1315856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:28518168|PMID:32461654 12396259 ZBTB24 zinc finger and BTB domain containing 24 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1315856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:28492532|PMID:29255178 12396281 ANKRD34A ankyrin repeat domain 34A gene DOID:0111027 hemochromatosis type 2A ISO RGD:1347090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 2A PMID:28492532 12396281 ANKRD34A ankyrin repeat domain 34A gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1347090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 12396281 ANKRD34A ankyrin repeat domain 34A gene DOID:1540 parathyroid carcinoma ISO RGD:1347090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12396281 ANKRD34A ankyrin repeat domain 34A gene DOID:5419 schizophrenia ISO RGD:1347090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12396281 ANKRD34A ankyrin repeat domain 34A gene DOID:630 genetic disease ISO RGD:1347090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396281 ANKRD34A ankyrin repeat domain 34A gene DOID:9008939 Breast Neoplasms ISO RGD:1347090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12396281 ANKRD34A ankyrin repeat domain 34A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12396291 TIAL1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:224 transient cerebral ischemia ISO RGD:1595845 D RGD:9068941 20200609 RGD PMID:10700014|REF_RGD_ID:1357161 12396291 TIAL1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:3069 malignant astrocytoma ISO RGD:1345557 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:27106762 12396291 TIAL1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:630 genetic disease ISO RGD:1345557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396291 TIAL1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:9000918 Disease Progression ISO RGD:1345557 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:27106762 12396291 TIAL1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12396328 JARID2 jumonji and AT-rich interaction domain containing 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1354253 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21308764 12396328 JARID2 jumonji and AT-rich interaction domain containing 2 gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1354253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868 12396328 JARID2 jumonji and AT-rich interaction domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1354253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild PMID:25741868 12396328 JARID2 jumonji and AT-rich interaction domain containing 2 gene DOID:10907 microcephaly ISO RGD:1354253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12396328 JARID2 jumonji and AT-rich interaction domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1354253 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autism 12396328 JARID2 jumonji and AT-rich interaction domain containing 2 gene DOID:1712 aortic valve stenosis ISO RGD:1354253 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:ventricle endocardium (human) PMID:18805276|REF_RGD_ID:9586018 12396328 JARID2 jumonji and AT-rich interaction domain containing 2 gene DOID:2377 multiple sclerosis ISO RGD:1354253 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 12396328 JARID2 jumonji and AT-rich interaction domain containing 2 gene DOID:630 genetic disease ISO RGD:1354253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12396328 JARID2 jumonji and AT-rich interaction domain containing 2 gene DOID:9004098 DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES ISO RGD:1354253 D RGD:7240710 20230222 OMIM 12396328 JARID2 jumonji and AT-rich interaction domain containing 2 gene DOID:9004098 DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES ISO RGD:1354253 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual disability and dysmorphic facies PMID:25741868|PMID:33077894|PMID:35887345 12396328 JARID2 jumonji and AT-rich interaction domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354253 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33077894|PMID:35887345 12396359 DPEP1 dipeptidase 1 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1350537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12396359 DPEP1 dipeptidase 1 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1350537 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12396359 DPEP1 dipeptidase 1 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1350537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 12396359 DPEP1 dipeptidase 1 gene DOID:13636 Fanconi anemia ISO RGD:1350537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 12396359 DPEP1 dipeptidase 1 gene DOID:14780 KBG syndrome ISO RGD:1350537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 12396359 DPEP1 dipeptidase 1 gene DOID:630 genetic disease ISO RGD:1350537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396359 DPEP1 dipeptidase 1 gene DOID:687 hepatoblastoma ameliorates ISO RGD:1350537 D RGD:9068941 20220825 RGD human cells in mouse model PMID:31541079|REF_RGD_ID:153344539 12396359 DPEP1 dipeptidase 1 gene DOID:8398 osteoarthritis ISO RGD:1350537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 12396359 DPEP1 dipeptidase 1 gene DOID:8577 ulcerative colitis ISO RGD:1350537 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 12396359 DPEP1 dipeptidase 1 gene DOID:9008261 Chemically-Induced Disorders ISO RGD:1350537 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 12396373 CPPED1 calcineurin like phosphoesterase domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1602325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12396373 CPPED1 calcineurin like phosphoesterase domain containing 1 gene DOID:630 genetic disease ISO RGD:1602325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396384 CPSF2 cleavage and polyadenylation specific factor 2 gene DOID:0080054 achondrogenesis type IA ISO RGD:1320166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12396384 CPSF2 cleavage and polyadenylation specific factor 2 gene DOID:630 genetic disease ISO RGD:1320166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396404 MAPT microtubule associated protein tau gene DOID:0050700 cardiomyopathy ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29068127 12396404 MAPT microtubule associated protein tau gene DOID:0050880 Koolen de Vries syndrome ISO RGD:736496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome | ClinVar Annotator: match by term: Koolen-de Vries syndrome PMID:18628315|PMID:21094706|PMID:25741868|PMID:26467025|PMID:28492532 12396404 MAPT microtubule associated protein tau gene DOID:0050888 syndromic intellectual disability ISO RGD:736496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:26467025|PMID:28492532 12396404 MAPT microtubule associated protein tau gene DOID:0060224 atrial fibrillation ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12396404 MAPT microtubule associated protein tau gene DOID:0060892 late onset Parkinson's disease ISO RGD:736496 D RGD:7240710 20180130 OMIM 12396404 MAPT microtubule associated protein tau gene DOID:0060892 late onset Parkinson's disease ISO RGD:736496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary late onset Parkinson disease | ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:25741868|PMID:26467025|PMID:28492532 12396404 MAPT microtubule associated protein tau gene DOID:0080855 Parkinsonism ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10802785|PMID:19458322 12396404 MAPT microtubule associated protein tau gene DOID:0080855 Parkinsonism treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:27228974|REF_RGD_ID:13801017 12396404 MAPT microtubule associated protein tau gene DOID:0081292 traumatic brain injury ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:26484783|PMID:26729399|PMID:28412141|REF_RGD_ID:13800902|REF_RGD_ID:13800909|REF_RGD_ID:13800912 12396404 MAPT microtubule associated protein tau gene DOID:0081292 traumatic brain injury treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:25771151|REF_RGD_ID:13800917 12396404 MAPT microtubule associated protein tau gene DOID:10283 prostate cancer ISO RGD:736496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12396404 MAPT microtubule associated protein tau gene DOID:1059 intellectual disability ISO RGD:736496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:25741868|PMID:26467025|PMID:28492532 12396404 MAPT microtubule associated protein tau gene DOID:10652 Alzheimer's disease ISO RGD:736496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:30279455 12396404 MAPT microtubule associated protein tau gene DOID:10652 Alzheimer's disease no_association ISO RGD:736496 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:promoter:rs242557 (human) PMID:19308965|REF_RGD_ID:8158097 12396404 MAPT microtubule associated protein tau gene DOID:10652 Alzheimer's disease onset ISO RGD:736496 D RGD:9068941 20200609 RGD DNA:SNP, haplotypes:promoter:rs242557 (human) PMID:23116876|REF_RGD_ID:8158105 12396404 MAPT microtubule associated protein tau gene DOID:10652 Alzheimer's disease onset ISO RGD:736496 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R406W(human) PMID:18587238|REF_RGD_ID:10412701 12396404 MAPT microtubule associated protein tau gene DOID:10652 Alzheimer's disease treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:27060945|PMID:28342971|REF_RGD_ID:13800904|REF_RGD_ID:13800908 12396404 MAPT microtubule associated protein tau gene DOID:10652 Alzheimer's disease treatment ISO RGD:736496 D RGD:9068941 20200609 RGD PMID:19252918|REF_RGD_ID:10412704 12396404 MAPT microtubule associated protein tau gene DOID:11162 respiratory failure ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14595660 12396404 MAPT microtubule associated protein tau gene DOID:11870 Pick's disease ISO RGD:736496 D RGD:7240710 20180130 OMIM 12396404 MAPT microtubule associated protein tau gene DOID:11870 Pick's disease ISO RGD:736496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pick Disease of the Brain | ClinVar Annotator: match by term: Pick disease PMID:10604746|PMID:11032905|PMID:11117542|PMID:11601501|PMID:11891833|PMID:18067537|PMID:23043292|PMID:25741868|PMID:26467025|PMID:27582388|PMID:27641626|PMID:27802239|PMID:28492532|PMID:30090657 12396404 MAPT microtubule associated protein tau gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:736496 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:29368621|PMID:30309804|PMID:31541342|REF_RGD_ID:127284880|REF_RGD_ID:127284881|REF_RGD_ID:127284889 12396404 MAPT microtubule associated protein tau gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:736496 D RGD:9068941 20210625 RGD protein:increased expression:CSF, serum (human) PMID:27929120|REF_RGD_ID:127284887 12396404 MAPT microtubule associated protein tau gene DOID:1289 neurodegenerative disease ISO RGD:736496 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:9789048 12396404 MAPT microtubule associated protein tau gene DOID:1307 dementia ISO RGD:736496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dementia PMID:10202939|PMID:10329720|PMID:10443890|PMID:10446810|PMID:11255441|PMID:11402146|PMID:11641718|PMID:11708988|PMID:11912108|PMID:11971081|PMID:11971082|PMID:12847166|PMID:14755449|PMID:15372253|PMID:17923640|PMID:18525295|PMID:19365643|PMID:19766248|PMID:19786698|PMID:19884572|PMID:19914360|PMID:20045477|PMID:23680655|PMID:23885714|PMID:25683866|PMID:25741868|PMID:26136155|PMID:26467025|PMID:27594586|PMID:28097206|PMID:28492532|PMID:7783864|PMID:7936288|PMID:8940276|PMID:9088499|PMID:9392579|PMID:9641683 12396404 MAPT microtubule associated protein tau gene DOID:1307 dementia disease_progression ISO RGD:736496 D RGD:9068941 20200609 RGD DNA:haplotype: : PMID:20930301|REF_RGD_ID:10412700 12396404 MAPT microtubule associated protein tau gene DOID:14330 Parkinson's disease ISO RGD:736496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease PMID:25741868|PMID:26467025|PMID:28492532 12396404 MAPT microtubule associated protein tau gene DOID:14330 Parkinson's disease susceptibility ISO RGD:736496 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs8070723) (human) PMID:22221882|REF_RGD_ID:8158107 12396404 MAPT microtubule associated protein tau gene DOID:1561 cognitive disorder ISO RGD:69329 D RGD:9068941 20200609 RGD associated with Hypothermia PMID:25782579|REF_RGD_ID:13800916 12396404 MAPT microtubule associated protein tau gene DOID:1561 cognitive disorder ISO RGD:69329 D RGD:9068941 20200609 RGD associated with Hypoxia PMID:24993525|REF_RGD_ID:13801018 12396404 MAPT microtubule associated protein tau gene DOID:1561 cognitive disorder ISO RGD:69329 D RGD:9068941 20200609 RGD associated with Insulin Resistance PMID:24335173|REF_RGD_ID:13800925 12396404 MAPT microtubule associated protein tau gene DOID:1561 cognitive disorder ISO RGD:69329 D RGD:9068941 20200609 RGD associated with hypothyroidism PMID:24978200|REF_RGD_ID:13800922 12396404 MAPT microtubule associated protein tau gene DOID:1561 cognitive disorder ISO RGD:69329 D RGD:9068941 20200609 RGD associated with obesity PMID:25683673|REF_RGD_ID:13801008 12396404 MAPT microtubule associated protein tau gene DOID:1561 cognitive disorder ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24556215|PMID:26945731 12396404 MAPT microtubule associated protein tau gene DOID:1561 cognitive disorder treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:24484683|REF_RGD_ID:13800924 12396404 MAPT microtubule associated protein tau gene DOID:1612 breast cancer disease_progression ISO RGD:736496 D RGD:9068941 20200609 RGD PMID:18668363|REF_RGD_ID:8158093 12396404 MAPT microtubule associated protein tau gene DOID:1826 epilepsy treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:28595035|REF_RGD_ID:13800901 12396404 MAPT microtubule associated protein tau gene DOID:2030 anxiety disorder ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29860433 12396404 MAPT microtubule associated protein tau gene DOID:2316 brain ischemia ISO RGD:69329 D RGD:9068941 20200609 RGD protein:increased phosphorylation PMID:15353210|REF_RGD_ID:1599927 12396404 MAPT microtubule associated protein tau gene DOID:3328 temporal lobe epilepsy ISO RGD:736496 D RGD:9068941 20200609 RGD PMID:28595035|REF_RGD_ID:13800901 12396404 MAPT microtubule associated protein tau gene DOID:3525 middle cerebral artery infarction ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:28886009|REF_RGD_ID:13800886 12396404 MAPT microtubule associated protein tau gene DOID:3525 middle cerebral artery infarction ISO RGD:736497 D RGD:9068941 20200609 RGD PMID:28886009|REF_RGD_ID:13800886 12396404 MAPT microtubule associated protein tau gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:25903928|REF_RGD_ID:13800913 12396404 MAPT microtubule associated protein tau gene DOID:4752 multiple system atrophy ISO RGD:736496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple system atrophy PMID:25741868 12396404 MAPT microtubule associated protein tau gene DOID:4990 essential tremor no_association ISO RGD:736496 D RGD:9068941 20200609 RGD DNA:SNP: :rs1052553 (human) PMID:22911817|REF_RGD_ID:8158098 12396404 MAPT microtubule associated protein tau gene DOID:630 genetic disease ISO RGD:736496 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10318930|PMID:10624829|PMID:12615641|PMID:15376481|PMID:17071927|PMID:19659892|PMID:25741868|PMID:25937274|PMID:26467025|PMID:27975259|PMID:28492532|PMID:30279455 12396404 MAPT microtubule associated protein tau gene DOID:678 progressive supranuclear palsy ISO RGD:736496 D RGD:7240710 20180130 OMIM 12396404 MAPT microtubule associated protein tau gene DOID:678 progressive supranuclear palsy ISO RGD:736496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Progressive supranuclear ophthalmoplegia | ClinVar Annotator: match by term: Supranuclear palsy, progressive, 1 PMID:10100642|PMID:10214944|PMID:10219785|PMID:10627302|PMID:10767321|PMID:10821687|PMID:10932182|PMID:11013246|PMID:11115852|PMID:11255441|PMID:11402146|PMID:11756436|PMID:12473404|PMID:14595660|PMID:15489396|PMID:15831501|PMID:16157753|PMID:17526496|PMID:19458322|PMID:20561037|PMID:22022446|PMID:22723997|PMID:2273997|PMID:25319522|PMID:25592136|PMID:25741868|PMID:26220942|PMID:26269332|PMID:26467025|PMID:26519432|PMID:27439681|PMID:28268100|PMID:28492532|PMID:30528841|PMID:32843152|PMID:8673924|PMID:9629852|PMID:9641683|PMID:9736786|PMID:9789048 12396404 MAPT microtubule associated protein tau gene DOID:678 progressive supranuclear palsy onset ISO RGD:736496 D RGD:9068941 20200609 RGD PMID:16839689|REF_RGD_ID:8158099 12396404 MAPT microtubule associated protein tau gene DOID:680 tauopathy ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10604746|PMID:11889249|PMID:14595660|PMID:24556215|PMID:27569447 12396404 MAPT microtubule associated protein tau gene DOID:680 tauopathy ISO RGD:736496 D RGD:9068941 20200609 RGD PMID:28721361|REF_RGD_ID:13800888 12396404 MAPT microtubule associated protein tau gene DOID:680 tauopathy treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:27998769|REF_RGD_ID:13800905 12396404 MAPT microtubule associated protein tau gene DOID:680 tauopathy treatment ISO RGD:736496 D RGD:9068941 20200609 RGD PMID:22874558|REF_RGD_ID:8158094 12396404 MAPT microtubule associated protein tau gene DOID:684 hepatocellular carcinoma ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12396404 MAPT microtubule associated protein tau gene DOID:8725 vascular dementia treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:27118553|REF_RGD_ID:13792766 12396404 MAPT microtubule associated protein tau gene DOID:8927 learning disability ISO RGD:736496 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:24556215 12396404 MAPT microtubule associated protein tau gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:22052241|REF_RGD_ID:8158113 12396404 MAPT microtubule associated protein tau gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease ISO RGD:736496 D RGD:9068941 20210618 RGD protein:increased expression:CSF, serum (human) PMID:27929120|REF_RGD_ID:127284887 12396404 MAPT microtubule associated protein tau gene DOID:9001366 Psychomotor Agitation ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24556215 12396404 MAPT microtubule associated protein tau gene DOID:9001981 Weight Loss ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24556215 12396404 MAPT microtubule associated protein tau gene DOID:9002644 Premature Aging ISO RGD:736497 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:brain: PMID:16171847|REF_RGD_ID:10412708 12396404 MAPT microtubule associated protein tau gene DOID:9002720 Splenomegaly ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27117003 12396404 MAPT microtubule associated protein tau gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:15494405|REF_RGD_ID:1358431 12396404 MAPT microtubule associated protein tau gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:25665755|REF_RGD_ID:13782373 12396404 MAPT microtubule associated protein tau gene DOID:9004657 Weight Gain ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29203278 12396404 MAPT microtubule associated protein tau gene DOID:9004866 Ataxia ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31783120 12396404 MAPT microtubule associated protein tau gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:28400135|REF_RGD_ID:13800903 12396404 MAPT microtubule associated protein tau gene DOID:9005725 Iron Overload treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:27403880|REF_RGD_ID:13800907 12396404 MAPT microtubule associated protein tau gene DOID:9006041 Osteoarthritis, Hip ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 12396404 MAPT microtubule associated protein tau gene DOID:9006205 Animal Disease Models ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24556215 12396404 MAPT microtubule associated protein tau gene DOID:9007402 Gliosis ISO RGD:736496 D RGD:9068941 20200609 RGD PMID:19155101|REF_RGD_ID:8158112 12396404 MAPT microtubule associated protein tau gene DOID:9008023 Memory Disorders ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:15524282|REF_RGD_ID:1358432 12396404 MAPT microtubule associated protein tau gene DOID:9008023 Memory Disorders ISO RGD:736496 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:12368474|PMID:24556215|PMID:29203278|PMID:29860433 12396404 MAPT microtubule associated protein tau gene DOID:9008394 Drug-Induced Dyskinesia treatment ISO RGD:69329 D RGD:9068941 20200609 RGD associated with Parkinsonian Disorders PMID:25511986|REF_RGD_ID:13800920 12396404 MAPT microtubule associated protein tau gene DOID:9008534 Progressive Supranuclear Palsy Atypical ISO RGD:736496 D RGD:7240710 20180130 OMIM 12396404 MAPT microtubule associated protein tau gene DOID:9008534 Progressive Supranuclear Palsy Atypical ISO RGD:736496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atypical PSP PMID:25741868|PMID:26467025|PMID:28492532 12396404 MAPT microtubule associated protein tau gene DOID:9255 frontotemporal dementia ISO RGD:736496 D RGD:7240710 20180130 OMIM 12396404 MAPT microtubule associated protein tau gene DOID:9255 frontotemporal dementia ISO RGD:736496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia PMID:10076890|PMID:10100642|PMID:10202939|PMID:10208578|PMID:10214944|PMID:10219785|PMID:10318930|PMID:10329720|PMID:10374757|PMID:10412802|PMID:10443890|PMID:10446810|PMID:10489057|PMID:10514099|PMID:10553987|PMID:10604746|PMID:10624829|PMID:10627302|PMID:10767321|PMID:10775534|PMID:10797541|PMID:10802785|PMID:10820221|PMID:10821687|PMID:10822460|PMID:10932182|PMID:11013246|PMID:11032905|PMID:11071507|PMID:11102510|PMID:11115852|PMID:11117541|PMID:11117542|PMID:11117553|PMID:11159174|PMID:11255441|PMID:11278002|PMID:11402146|PMID:11456301|PMID:11641718|PMID:11708988|PMID:11756436|PMID:11756496|PMID:11889249|PMID:11891833|PMID:11912108|PMID:11921059|PMID:11971081|PMID:11971082|PMID:12325083|PMID:12368474|PMID:12473404|PMID:12473774|PMID:12509859|PMID:12615641|PMID:12722177|PMID:12796837|PMID:12847166|PMID:12876142|PMID:1416801|PMID:14517953|PMID:14568818|PMID:14755449|PMID:15178938|PMID:15178940|PMID:15365985|PMID:15372253|PMID:15376481|PMID:15489396|PMID:15831501|PMID:15883319|PMID:16219306|PMID:16240366|PMID:16416390|PMID:16477083|PMID:16495230|PMID:16503405|PMID:17071927|PMID:17526496|PMID:17576681|PMID:17923640|PMID:18067537|PMID:18093153|PMID:18284428|PMID:18525295|PMID:18587238|PMID:18628315|PMID:18803694|PMID:18851693|PMID:18854867|PMID:18992292|PMID:19091059|PMID:19263483|PMID:19304664|PMID:19365643|PMID:19458322|PMID:19659892|PMID:19766248|PMID:19786698|PMID:19884572|PMID:19914360|PMID:20045477|PMID:20377816|PMID:20561037|PMID:20598713|PMID:20634584|PMID:21094706|PMID:21176711|PMID:21339331|PMID:21343707|PMID:21344240|PMID:21849646|PMID:22022446|PMID:22118943|PMID:22312439|PMID:22556362|PMID:22595371|PMID:22723997|PMID:2273997|PMID:22787795|PMID:22818528|PMID:22906081|PMID:23043292|PMID:23047372|PMID:23053136|PMID:23105105|PMID:23338682|PMID:23383383|PMID:23518664|PMID:23680655|PMID:23692670|PMID:23727082|PMID:23752245|PMID:23881933|PMID:23885714|PMID:23990795|PMID:24018212|PMID:24081456|PMID:24150109|PMID:25319522|PMID:25466404|PMID:25592136|PMID:25604855|PMID:25617006|PMID:25671699|PMID:25683866|PMID:25741868|PMID:25937274|PMID:25942996|PMID:26028272|PMID:26136155|PMID:26200045|PMID:26220942|PMID:26269332|PMID:26295349|PMID:26297556|PMID:26333800|PMID:26426266|PMID:26467025|PMID:26519432|PMID:26601740|PMID:26931567|PMID:27082848|PMID:27094865|PMID:27439681|PMID:27582388|PMID:27594586|PMID:27606344|PMID:27641626|PMID:27776828|PMID:27802239|PMID:27975259|PMID:28097206|PMID:28130473|PMID:28268100|PMID:28334843|PMID:28462717|PMID:28492532|PMID:28923025|PMID:29091718|PMID:29253099|PMID:29525180|PMID:30090657|PMID:30279455|PMID:30528841|PMID:31059154|PMID:31404212|PMID:31542321|PMID:31836585|PMID:32171587|PMID:32843152|PMID:33580635|PMID:34274155|PMID:7783864|PMID:7936288|PMID:7977375|PMID:8673924|PMID:8926492|PMID:8940276|PMID:9088499|PMID:9382467|PMID:9392579|PMID:9536098|PMID:9629852|PMID:9636220|PMID:9641683|PMID:9736786|PMID:9789048|PMID:9824291|PMID:9973279 12396404 MAPT microtubule associated protein tau gene DOID:9255 frontotemporal dementia no_association ISO RGD:736496 D RGD:9068941 20200609 RGD DNA:haplotype PMID:17386961|REF_RGD_ID:8158108 12396404 MAPT microtubule associated protein tau gene DOID:9970 obesity ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:25257559|REF_RGD_ID:13800921 12396467 RAD23B RAD23 homolog B, nucleotide excision repair protein gene DOID:12336 male infertility ISO RGD:1351559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11809813 12396467 RAD23B RAD23 homolog B, nucleotide excision repair protein gene DOID:630 genetic disease ISO RGD:1351559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396467 RAD23B RAD23 homolog B, nucleotide excision repair protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 12396467 RAD23B RAD23 homolog B, nucleotide excision repair protein gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11809813 12396481 CARD14 caspase recruitment domain family member 14 gene DOID:0080475 psoriasis 2 ISO RGD:1350189 D RGD:7240710 20190227 OMIM 12396481 CARD14 caspase recruitment domain family member 14 gene DOID:0080475 psoriasis 2 ISO RGD:1350189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Psoriasis 2 PMID:15689454|PMID:17576681|PMID:18256691|PMID:22521418|PMID:22521419|PMID:23648549|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29477734|PMID:8178173|PMID:9536098 12396481 CARD14 caspase recruitment domain family member 14 gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1350189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:10601282|PMID:11343308|PMID:12490062|PMID:15146460|PMID:18407553|PMID:21061399|PMID:22976768|PMID:22976788|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28492532|PMID:30809705|PMID:31536183|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9700599 12396481 CARD14 caspase recruitment domain family member 14 gene DOID:12798 mucopolysaccharidosis ISO RGD:1350189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidoses PMID:10601282|PMID:11343308|PMID:12490062|PMID:15146460|PMID:18407553|PMID:21061399|PMID:22976768|PMID:22976788|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28492532|PMID:30809705|PMID:31536183|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9700599 12396481 CARD14 caspase recruitment domain family member 14 gene DOID:12801 mucopolysaccharidosis III ISO RGD:1350189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sanfilippo syndrome PMID:10601282|PMID:11343308|PMID:12490062|PMID:15146460|PMID:18407553|PMID:21061399|PMID:22976768|PMID:22976788|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28492532|PMID:30809705|PMID:31536183|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9700599 12396481 CARD14 caspase recruitment domain family member 14 gene DOID:1289 neurodegenerative disease ISO RGD:1350189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:10601282|PMID:11343308|PMID:12490062|PMID:15146460|PMID:18407553|PMID:21061399|PMID:22976768|PMID:22976788|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28492532|PMID:30809705|PMID:31536183|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9700599 12396481 CARD14 caspase recruitment domain family member 14 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1350189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:17576681|PMID:22521419|PMID:24033266|PMID:24999592|PMID:25734815|PMID:25741868|PMID:25989471|PMID:26203641|PMID:26358359|PMID:28492532|PMID:28887889|PMID:30387497|PMID:9536098 12396481 CARD14 caspase recruitment domain family member 14 gene DOID:630 genetic disease ISO RGD:1350189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10601282|PMID:11343308|PMID:12490062|PMID:15146460|PMID:18407553|PMID:21061399|PMID:22521419|PMID:22976768|PMID:22976788|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28166811|PMID:28492532|PMID:30809705|PMID:31536183|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9700599 12396481 CARD14 caspase recruitment domain family member 14 gene DOID:8893 psoriasis ISO RGD:1350189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Psoriasis 2, pustular PMID:22521418|PMID:22521419 12396481 CARD14 caspase recruitment domain family member 14 gene DOID:9005678 Familial Pityriasis Rubra Pilaris ISO RGD:1350189 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial pityriasis rubra pilaris PMID:25741868 12396481 CARD14 caspase recruitment domain family member 14 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1350189 D RGD:7240710 20180130 OMIM 12396481 CARD14 caspase recruitment domain family member 14 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1350189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Papulosquamous eruptions | ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:16199547|PMID:17576681|PMID:22521418|PMID:22521419|PMID:22703878|PMID:23648549|PMID:24033266|PMID:24999592|PMID:25640679|PMID:25734815|PMID:25741868|PMID:25989471|PMID:26130407|PMID:26203641|PMID:26358359|PMID:27140437|PMID:28135719|PMID:28166811|PMID:28230860|PMID:28295164|PMID:28492532|PMID:28776328|PMID:28887889|PMID:29477734|PMID:29704870|PMID:30248356|PMID:30387497|PMID:30998217|PMID:31971270|PMID:32199921|PMID:8178173|PMID:9536098 12396511 RSPH4A radial spoke head component 4A gene DOID:0050144 Kartagener syndrome ISO RGD:1348763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:17576681|PMID:23798057|PMID:24824133|PMID:25741868|PMID:28492532|PMID:9536098 12396511 RSPH4A radial spoke head component 4A gene DOID:0060041 autism spectrum disorder ISO RGD:1348763 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12396511 RSPH4A radial spoke head component 4A gene DOID:0060163 body dysmorphic disorder ISO RGD:1348763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 12396511 RSPH4A radial spoke head component 4A gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1348763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12396511 RSPH4A radial spoke head component 4A gene DOID:0110602 primary ciliary dyskinesia 11 ISO RGD:1348763 D RGD:7240710 20180130 OMIM 12396511 RSPH4A radial spoke head component 4A gene DOID:0110602 primary ciliary dyskinesia 11 ISO RGD:1348763 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 11 PMID:16199547|PMID:17576681|PMID:19200523|PMID:20301301|PMID:22448264|PMID:23798057|PMID:23993197|PMID:24033266|PMID:25741868|PMID:25789548|PMID:28492532|PMID:32253119|PMID:34768622|PMID:9536098 12396511 RSPH4A radial spoke head component 4A gene DOID:1059 intellectual disability ISO RGD:1348763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 12396511 RSPH4A radial spoke head component 4A gene DOID:10907 microcephaly ISO RGD:1348763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 12396511 RSPH4A radial spoke head component 4A gene DOID:1826 epilepsy ISO RGD:1348763 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12396511 RSPH4A radial spoke head component 4A gene DOID:630 genetic disease ISO RGD:1348763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12396511 RSPH4A radial spoke head component 4A gene DOID:9000495 Tremor ISO RGD:1348763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12396511 RSPH4A radial spoke head component 4A gene DOID:9562 primary ciliary dyskinesia ISO RGD:1348763 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:19200523|PMID:20301301|PMID:22448264|PMID:23798057|PMID:23993197|PMID:24033266|PMID:25741868|PMID:25789548|PMID:27637300|PMID:27848944|PMID:28492532|PMID:32253119|PMID:34768622|PMID:9536098 12396523 RFPL4A ret finger protein like 4A gene DOID:630 genetic disease ISO RGD:1349182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396528 SLC6A16 solute carrier family 6 member 16 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1353315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12396528 SLC6A16 solute carrier family 6 member 16 gene DOID:630 genetic disease ISO RGD:1353315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396546 WDR82 WD repeat domain 82 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1604285 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12396546 WDR82 WD repeat domain 82 gene DOID:630 genetic disease ISO RGD:1604285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396559 NAA16 N-alpha-acetyltransferase 16, NatA auxiliary subunit gene DOID:630 genetic disease ISO RGD:1606244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396573 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:0050791 persistent Mullerian duct syndrome IAGP D RGD:12801476 20230308 OMIA Persistent Mullerian duct syndrome PMID:10267|PMID:2576223|PMID:8318594|PMID:8229960|PMID:15499815|PMID:18723470|PMID:19097712|PMID:7141975|PMID:20051676|PMID:19754534|PMID:15287579|PMID:22005097|PMID:19346713|PMID:18954385|PMID:21248100|PMID:30086548|PMID:30173854|PMID:29194807|PMID:31241703|PMID:36852872 12396573 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:0050791 persistent Mullerian duct syndrome ISO RGD:733276 D RGD:7240710 20180130 OMIM 12396573 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:0050791 persistent Mullerian duct syndrome ISO RGD:733276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type II PMID:11549681|PMID:19457927|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31291191|PMID:7493017|PMID:8872466 12396573 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:733276 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 12396573 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:1967 leiomyosarcoma ISO RGD:733276 D RGD:9068941 20200609 RGD protein:increased expression:myometrium PMID:17988723|REF_RGD_ID:2315651 12396573 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:2519 testicular disease ISO RGD:733276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of testis PMID:19457927|PMID:25741868|PMID:28528332|PMID:30668521 12396573 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:4441 dysgerminoma ISO RGD:733276 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17988723|REF_RGD_ID:2315651 12396573 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:733276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12396573 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 12396573 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:630 genetic disease ISO RGD:733276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12396573 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:9002739 Female Urogenital Diseases ISO RGD:733276 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 12396573 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733276 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary PMID:19424576|REF_RGD_ID:2315638 12396573 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:733276 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Male pseudohermaphroditism PMID:25741868 12396573 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12396573 AMHR2 anti-Mullerian hormone receptor type 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:733276 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:17988723|REF_RGD_ID:2315651 12396588 AQP2 aquaporin 2 gene DOID:0050700 cardiomyopathy ISO RGD:70370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12145768 12396588 AQP2 aquaporin 2 gene DOID:0081061 nephrogenic diabetes insipidus type 2 ISO RGD:70370 D RGD:7240710 20210630 OMIM 12396588 AQP2 aquaporin 2 gene DOID:0081061 nephrogenic diabetes insipidus type 2 ISO RGD:70370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic, autosomal PMID:10228154|PMID:10564236|PMID:10574954|PMID:10770218|PMID:10997928|PMID:11035038|PMID:11076974|PMID:11143979|PMID:11374071|PMID:11536078|PMID:11853799|PMID:11929850|PMID:12050236|PMID:12191971|PMID:14593099|PMID:14599123|PMID:15509592|PMID:16120822|PMID:16199547|PMID:16845277|PMID:17192724|PMID:18431594|PMID:18854434|PMID:19147915|PMID:19293543|PMID:19458121|PMID:20403973|PMID:20711567|PMID:22498392|PMID:22644838|PMID:22778181|PMID:23950570|PMID:24033266|PMID:25741868|PMID:26069764|PMID:26442203|PMID:26467025|PMID:27151922|PMID:27156763|PMID:27641679|PMID:28492532|PMID:30773290|PMID:30784238|PMID:33532864|PMID:7512890|PMID:7524315|PMID:7537761|PMID:8793791|PMID:9024277|PMID:9048343|PMID:9302264|PMID:9550615|PMID:9593782|PMID:9649557|PMID:9745427 12396588 AQP2 aquaporin 2 gene DOID:10763 hypertension ISO RGD:2142 D RGD:9068941 20200609 RGD protein:decreased expression:kidney medulla PMID:16788141|REF_RGD_ID:1601242 12396588 AQP2 aquaporin 2 gene DOID:10763 hypertension ISO RGD:2142 D RGD:9068941 20200609 RGD protein:increased expression:kidney medulla PMID:16582573|REF_RGD_ID:1601243 12396588 AQP2 aquaporin 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:70370 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nephrogenic diabetes insipidus PMID:10228154|PMID:10564236|PMID:10574954|PMID:10770218|PMID:10997928|PMID:11076974|PMID:11143979|PMID:11374071|PMID:14593099|PMID:15509592|PMID:16120822|PMID:16361827|PMID:17192724|PMID:18431594|PMID:18470935|PMID:19458121|PMID:20403973|PMID:22644838|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27156763|PMID:27641679|PMID:28492532|PMID:7524315|PMID:7537761|PMID:8793791|PMID:9024277|PMID:9048343|PMID:9550615|PMID:9593782 12396588 AQP2 aquaporin 2 gene DOID:1837 diabetic ketoacidosis ISO RGD:70370 D RGD:9068941 20200609 RGD PMID:12021537|REF_RGD_ID:2314345 12396588 AQP2 aquaporin 2 gene DOID:630 genetic disease ISO RGD:70370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12396588 AQP2 aquaporin 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:70370 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased secretion:urine PMID:12218327|REF_RGD_ID:2314343 12396588 AQP2 aquaporin 2 gene DOID:9005274 Polyuria ISO RGD:2142 D RGD:9068941 20201211 RGD protein:decreased expression:total kidney membrane fraction (rat) PMID:10919858|REF_RGD_ID:2314654 12396588 AQP2 aquaporin 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10182 D RGD:9068941 20200609 RGD protein:decreased expression:kidney collecting duct PMID:15705184|REF_RGD_ID:2314326 12396588 AQP2 aquaporin 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2142 D RGD:9068941 20200609 RGD protein:increased expression:Kidney Medulla PMID:11380083|REF_RGD_ID:2314347 12396588 AQP2 aquaporin 2 gene DOID:9409 diabetes insipidus ISO RGD:2142 D RGD:9068941 20201211 RGD protein:decreased expression:total kidney membrane fraction (rat) PMID:10919858|REF_RGD_ID:2314654 12396588 Aqp2 aquaporin 2 gene DOID:11111 hydronephrosis ISO RGD:10182 D RGD:9068941 20200609 RGD DNA:mutation:exon:g.767C>T(mouse) PMID:16641094|REF_RGD_ID:2314310 12396596 B4GALNT3 beta-1,4-N-acetyl-galactosaminyltransferase 3 gene DOID:0080600 COVID-19 ISO RGD:1603523 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12396596 B4GALNT3 beta-1,4-N-acetyl-galactosaminyltransferase 3 gene DOID:630 genetic disease ISO RGD:1603523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396596 B4GALNT3 beta-1,4-N-acetyl-galactosaminyltransferase 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12396631 KIFC3 kinesin family member C3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1317029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12396631 KIFC3 kinesin family member C3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1317029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12396631 KIFC3 kinesin family member C3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1317029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12396631 KIFC3 kinesin family member C3 gene DOID:630 genetic disease ISO RGD:1317029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396673 CHRNB1 cholinergic receptor nicotinic beta 1 subunit gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:733898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12396673 CHRNB1 cholinergic receptor nicotinic beta 1 subunit gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:733898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C PMID:10562302|PMID:17576681|PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 12396673 CHRNB1 cholinergic receptor nicotinic beta 1 subunit gene DOID:0110680 congenital myasthenic syndrome 2C ISO RGD:733898 D RGD:7240710 20180822 OMIM 12396673 CHRNB1 cholinergic receptor nicotinic beta 1 subunit gene DOID:0110680 congenital myasthenic syndrome 2C ISO RGD:733898 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2C PMID:10562302|PMID:25741868|PMID:32504635|PMID:33060286 12396673 CHRNB1 cholinergic receptor nicotinic beta 1 subunit gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:733898 D RGD:7240710 20180314 OMIM 12396673 CHRNB1 cholinergic receptor nicotinic beta 1 subunit gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:733898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:10562302|PMID:14991812|PMID:16199547|PMID:17576681|PMID:17686188|PMID:18414213|PMID:20562457|PMID:25741868|PMID:26467025|PMID:27375219|PMID:27391121|PMID:28492532|PMID:8651643|PMID:8872460|PMID:9536098 12396673 CHRNB1 cholinergic receptor nicotinic beta 1 subunit gene DOID:1059 intellectual disability ISO RGD:733898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12396673 CHRNB1 cholinergic receptor nicotinic beta 1 subunit gene DOID:12177 common variable immunodeficiency ISO RGD:733898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12396673 CHRNB1 cholinergic receptor nicotinic beta 1 subunit gene DOID:2729 dyskeratosis congenita ISO RGD:733898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12396673 CHRNB1 cholinergic receptor nicotinic beta 1 subunit gene DOID:3012 Li-Fraumeni syndrome ISO RGD:733898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12396673 CHRNB1 cholinergic receptor nicotinic beta 1 subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:733898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive PMID:28492532 12396673 CHRNB1 cholinergic receptor nicotinic beta 1 subunit gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:733898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12396673 CHRNB1 cholinergic receptor nicotinic beta 1 subunit gene DOID:630 genetic disease ISO RGD:733898 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12396673 CHRNB1 cholinergic receptor nicotinic beta 1 subunit gene DOID:9008585 Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency ISO RGD:733898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12396688 GLP2R glucagon like peptide 2 receptor gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:731561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 12396688 GLP2R glucagon like peptide 2 receptor gene DOID:630 genetic disease ISO RGD:731561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396706 FRMD4A FERM domain containing 4A gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1350302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12396706 FRMD4A FERM domain containing 4A gene DOID:10907 microcephaly ISO RGD:1350302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12396706 FRMD4A FERM domain containing 4A gene DOID:303 substance-related disorder ISO RGD:1350302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12396706 FRMD4A FERM domain containing 4A gene DOID:630 genetic disease ISO RGD:1350302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396706 FRMD4A FERM domain containing 4A gene DOID:9006921 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA ISO RGD:1350302 D RGD:7240710 20190315 OMIM 12396706 FRMD4A FERM domain containing 4A gene DOID:9006921 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA ISO RGD:1350302 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia PMID:25388005|PMID:25741868|PMID:28492532 12396734 MEST mesoderm specific transcript gene DOID:0050476 Barth syndrome ISO RGD:1621604 D RGD:9068941 20220825 MouseDO OMIM:302060 12396734 MEST mesoderm specific transcript gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12396734 MEST mesoderm specific transcript gene DOID:630 genetic disease ISO RGD:1345318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396734 MEST mesoderm specific transcript gene DOID:9004657 Weight Gain ISO RGD:1345318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12396734 MEST mesoderm specific transcript gene DOID:9007491 Childhood Schizophrenia ISO RGD:1345318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 12396763 PVRIG PVR related immunoglobulin domain containing gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12396763 PVRIG PVR related immunoglobulin domain containing gene DOID:630 genetic disease ISO RGD:1604301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396771 TMPRSS6 transmembrane serine protease 6 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12396771 TMPRSS6 transmembrane serine protease 6 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1316154 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12396771 TMPRSS6 transmembrane serine protease 6 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1316154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12396771 TMPRSS6 transmembrane serine protease 6 gene DOID:11252 microcytic anemia ISO RGD:1316154 D RGD:7240710 20180130 OMIM 12396771 TMPRSS6 transmembrane serine protease 6 gene DOID:11252 microcytic anemia ISO RGD:1316154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Iron-refractory iron deficiency anemia | ClinVar Annotator: match by term: Microcytic anemia PMID:18408718|PMID:18596229|PMID:19357398|PMID:19592582|PMID:19818657|PMID:20719010|PMID:23319530|PMID:25156943|PMID:25588876|PMID:25741868|PMID:25873000|PMID:27365303|PMID:27643674|PMID:28492532|PMID:32581362 12396771 TMPRSS6 transmembrane serine protease 6 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1316154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12396771 TMPRSS6 transmembrane serine protease 6 gene DOID:11758 iron deficiency anemia ISO RGD:1316154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18408718|PMID:22169218 12396771 TMPRSS6 transmembrane serine protease 6 gene DOID:630 genetic disease ISO RGD:1316154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12396796 IL11 interleukin 11 gene DOID:1679 cystitis ISO RGD:736550 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17980069 12396796 IL11 interleukin 11 gene DOID:3525 middle cerebral artery infarction ISO RGD:736550 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 12396796 IL11 interleukin 11 gene DOID:409 liver disease ISO RGD:736550 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16964402 12396796 IL11 interleukin 11 gene DOID:630 genetic disease ISO RGD:736550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396796 IL11 interleukin 11 gene DOID:9000197 Edema ISO RGD:736550 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17980069 12396796 IL11 interleukin 11 gene DOID:9003281 Spontaneous Abortions ISO RGD:736550 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12396796 IL11 interleukin 11 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:736550 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069|PMID:30664745 12396796 IL11 interleukin 11 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736550 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11421492 12396796 IL11 interleukin 11 gene DOID:9008217 Hemorrhage ISO RGD:736550 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17980069 12396804 GLT8D2 glycosyltransferase 8 domain containing 2 gene DOID:630 genetic disease ISO RGD:1353062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396804 GLT8D2 glycosyltransferase 8 domain containing 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1353062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12396830 SCAI suppressor of cancer cell invasion gene DOID:630 genetic disease ISO RGD:1316447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396865 SPAG11B sperm associated antigen 11B gene DOID:630 genetic disease ISO RGD:1352554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396872 CIT citron rho-interacting serine/threonine kinase gene DOID:0070288 primary autosomal recessive microcephaly 17 ISO RGD:731048 D RGD:7240710 20190315 OMIM 12396872 CIT citron rho-interacting serine/threonine kinase gene DOID:0070288 primary autosomal recessive microcephaly 17 ISO RGD:731048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 17, primary, autosomal recessive PMID:25741868|PMID:27453578|PMID:27453579|PMID:27503289|PMID:27519304|PMID:28492532 12396872 CIT citron rho-interacting serine/threonine kinase gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:731048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary microcephaly PMID:27453579|PMID:27503289 12396872 CIT citron rho-interacting serine/threonine kinase gene DOID:0080600 COVID-19 ISO RGD:731048 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12396872 CIT citron rho-interacting serine/threonine kinase gene DOID:1059 intellectual disability ISO RGD:731048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12396872 CIT citron rho-interacting serine/threonine kinase gene DOID:10907 microcephaly ISO RGD:70878 D RGD:9068941 20200609 RGD PMID:10219263|REF_RGD_ID:13204836 12396872 CIT citron rho-interacting serine/threonine kinase gene DOID:11832 visual epilepsy ISO RGD:70878 D RGD:9068941 20200609 RGD PMID:10219263|REF_RGD_ID:13204836 12396872 CIT citron rho-interacting serine/threonine kinase gene DOID:11832 visual epilepsy ISO RGD:731049 D RGD:9068941 20200609 RGD PMID:11086988|REF_RGD_ID:734780 12396872 CIT citron rho-interacting serine/threonine kinase gene DOID:1826 epilepsy ISO RGD:70878 D RGD:9068941 20201211 RGD PMID:10219263|REF_RGD_ID:13204836 12396872 CIT citron rho-interacting serine/threonine kinase gene DOID:2843 long QT syndrome ISO RGD:731048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12396872 CIT citron rho-interacting serine/threonine kinase gene DOID:630 genetic disease ISO RGD:731048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27453579|PMID:28492532 12396872 CIT citron rho-interacting serine/threonine kinase gene DOID:9004866 Ataxia ISO RGD:731049 D RGD:9068941 20200609 RGD PMID:11086988|REF_RGD_ID:734780 12396872 CIT citron rho-interacting serine/threonine kinase gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:731048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12396935 HTR1F 5-hydroxytryptamine receptor 1F gene DOID:630 genetic disease ISO RGD:734005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396935 HTR1F 5-hydroxytryptamine receptor 1F gene DOID:6364 migraine ISO RGD:734005 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:35115687 12396955 PCED1B PC-esterase domain containing 1B gene DOID:630 genetic disease ISO RGD:1602665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396994 OR4K13BP olfactory receptor family 4 subfamily K member 13B, pseudogene gene DOID:630 genetic disease ISO RGD:1351116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12396998 DYDC1 DPY30 domain containing 1 gene DOID:630 genetic disease ISO RGD:1352824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397027 MIR125B-2 microRNA mir-125b-2 gene DOID:10652 Alzheimer's disease ISO RGD:1342678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 12397027 MIR125B-2 microRNA mir-125b-2 gene DOID:12932 endomyocardial fibrosis ISO RGD:1342678 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29122578 12397027 MIR125B-2 microRNA mir-125b-2 gene DOID:14250 Down syndrome ISO RGD:1342678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29403643 12397027 MIR125B-2 microRNA mir-125b-2 gene DOID:2043 hepatitis B ISO RGD:1342678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12397027 MIR125B-2 microRNA mir-125b-2 gene DOID:5844 myocardial infarction ISO RGD:1342678 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29122578 12397027 MIR125B-2 microRNA mir-125b-2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1342678 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29122578 12397027 MIR125B-2 microRNA mir-125b-2 gene DOID:9003936 Cardiomegaly ISO RGD:1342678 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29122578 12397027 MIR125B-2 microRNA mir-125b-2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12397027 MIR125B-2 microRNA mir-125b-2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12397102 GIMAP4 GTPase, IMAP family member 4 gene DOID:0080600 COVID-19 ISO RGD:1351937 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 12397102 GIMAP4 GTPase, IMAP family member 4 gene DOID:2843 long QT syndrome ISO RGD:1351937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 12397102 GIMAP4 GTPase, IMAP family member 4 gene DOID:630 genetic disease ISO RGD:1351937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397118 SRSF7 serine and arginine rich splicing factor 7 gene DOID:0080690 RASopathy ISO RGD:1316615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12397118 SRSF7 serine and arginine rich splicing factor 7 gene DOID:3883 Lynch syndrome ISO RGD:1316615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12397118 SRSF7 serine and arginine rich splicing factor 7 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1316615 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney (human) PMID:21082031|REF_RGD_ID:11039407 12397118 SRSF7 serine and arginine rich splicing factor 7 gene DOID:630 genetic disease ISO RGD:1316615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397118 SRSF7 serine and arginine rich splicing factor 7 gene DOID:9002179 Glomerular Hyperfiltration ISO RGD:1316616 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (mouse) PMID:10432394|REF_RGD_ID:1299473 12397134 LCK LCK proto-oncogene, Src family tyrosine kinase gene DOID:0111937 immunodeficiency 22 ISO RGD:1344945 D RGD:7240710 20180130 OMIM 12397134 LCK LCK proto-oncogene, Src family tyrosine kinase gene DOID:0111937 immunodeficiency 22 ISO RGD:1344945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to LCK deficiency PMID:16199547|PMID:17576681|PMID:22985903|PMID:25741868|PMID:27087313|PMID:28492532|PMID:9536098 12397134 LCK LCK proto-oncogene, Src family tyrosine kinase gene DOID:11204 allergic conjunctivitis ISO RGD:2994 D RGD:9068941 20200609 RGD protein:increased phosphorylation:T cell PMID:14507881|REF_RGD_ID:1600225 12397134 LCK LCK proto-oncogene, Src family tyrosine kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:10861 D RGD:9068941 20200609 RGD PMID:17711737|REF_RGD_ID:2316557 12397134 LCK LCK proto-oncogene, Src family tyrosine kinase gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:2994 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:T cell PMID:16828835|REF_RGD_ID:1600221 12397134 LCK LCK proto-oncogene, Src family tyrosine kinase gene DOID:627 severe combined immunodeficiency ISO RGD:1344945 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:27748010 12397134 LCK LCK proto-oncogene, Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:1344945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12397151 TUBGCP5 tubulin gamma complex associated protein 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1312280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21187176|PMID:21844811|PMID:23044707|PMID:23495136|PMID:25255310|PMID:25741868|PMID:27569545 12397151 TUBGCP5 tubulin gamma complex associated protein 5 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1312280 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:31690835 12397151 TUBGCP5 tubulin gamma complex associated protein 5 gene DOID:0110811 hereditary spastic paraplegia 6 ISO RGD:1312280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 PMID:17268193|PMID:23032108|PMID:25689425|PMID:28492532 12397151 TUBGCP5 tubulin gamma complex associated protein 5 gene DOID:1059 intellectual disability ISO RGD:1312280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12397151 TUBGCP5 tubulin gamma complex associated protein 5 gene DOID:10907 microcephaly ISO RGD:1312280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12397151 TUBGCP5 tubulin gamma complex associated protein 5 gene DOID:12849 autistic disorder ISO RGD:1312280 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 12397151 TUBGCP5 tubulin gamma complex associated protein 5 gene DOID:1932 Angelman syndrome ISO RGD:1312280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome 12397151 TUBGCP5 tubulin gamma complex associated protein 5 gene DOID:5419 schizophrenia ISO RGD:1312280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12397151 TUBGCP5 tubulin gamma complex associated protein 5 gene DOID:630 genetic disease ISO RGD:1312280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397151 TUBGCP5 tubulin gamma complex associated protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 12397184 SPAG7 sperm associated antigen 7 gene DOID:0050941 spastic ataxia 2 ISO RGD:1313520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 12397184 SPAG7 sperm associated antigen 7 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:1313520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 12397184 SPAG7 sperm associated antigen 7 gene DOID:630 genetic disease ISO RGD:1313520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397198 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:732310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 12397198 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:0050777 Joubert syndrome ISO RGD:732310 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12397198 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:732310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12397198 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:732310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29416063 12397198 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:732310 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12397198 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:12849 autistic disorder ISO RGD:732310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12397198 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:5082 liver cirrhosis ISO RGD:732310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29416063 12397198 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:630 genetic disease ISO RGD:732310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397198 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:3297 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:7929120|REF_RGD_ID:1642378 12397198 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3297 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:17116711|REF_RGD_ID:1642370 12397198 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:3297 D RGD:9068941 20200609 RGD PMID:17156888|REF_RGD_ID:1642369 12397218 BRD1 bromodomain containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1323531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984751|PMID:25255310 12397218 BRD1 bromodomain containing 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1323531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12397218 BRD1 bromodomain containing 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1323531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12397218 BRD1 bromodomain containing 1 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1323531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:28492532 12397218 BRD1 bromodomain containing 1 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1323531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12397218 BRD1 bromodomain containing 1 gene DOID:1059 intellectual disability ISO RGD:1323531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12397218 BRD1 bromodomain containing 1 gene DOID:11832 visual epilepsy ISO RGD:1311855 D RGD:9068941 20200609 RGD PMID:22675730|REF_RGD_ID:9586108 12397218 BRD1 bromodomain containing 1 gene DOID:3312 bipolar disorder susceptibility ISO RGD:1323531 D RGD:9068941 20200609 RGD DNA,SNP,haplotype:3'UTR: PMID:16924267|REF_RGD_ID:9586096 12397218 BRD1 bromodomain containing 1 gene DOID:5419 schizophrenia no_association ISO RGD:1323531 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs138880(human) PMID:19908236|REF_RGD_ID:9586358 12397218 BRD1 bromodomain containing 1 gene DOID:5419 schizophrenia susceptibility ISO RGD:1323531 D RGD:9068941 20200609 RGD DNA,SNPs,haplotype:promoter,3'UTR: PMID:16924267|REF_RGD_ID:9586096 12397218 BRD1 bromodomain containing 1 gene DOID:630 genetic disease ISO RGD:1323531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397246 DENND2A DENN domain containing 2A gene DOID:0080690 RASopathy ISO RGD:1314588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12397246 DENND2A DENN domain containing 2A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12397246 DENND2A DENN domain containing 2A gene DOID:630 genetic disease ISO RGD:1314588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397281 PLAT plasminogen activator, tissue type gene DOID:0060046 aphasia ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12690208 12397281 PLAT plasminogen activator, tissue type gene DOID:0060318 acute promyelocytic leukemia ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:leukocyte (human) PMID:10861807|REF_RGD_ID:11541060 12397281 PLAT plasminogen activator, tissue type gene DOID:0060573 von Willebrand's disease 1 treatment ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:1419807|REF_RGD_ID:11552591 12397281 PLAT plasminogen activator, tissue type gene DOID:0060903 thrombosis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12677255|PMID:19348381|PMID:2123154|PMID:22352330 12397281 PLAT plasminogen activator, tissue type gene DOID:0090039 torsion dystonia 6 ISO RGD:736468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 12397281 PLAT plasminogen activator, tissue type gene DOID:0111959 immunodeficiency 15B ISO RGD:736468 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 12397281 PLAT plasminogen activator, tissue type gene DOID:10554 meningoencephalitis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1430592 12397281 PLAT plasminogen activator, tissue type gene DOID:10763 hypertension ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 12397281 PLAT plasminogen activator, tissue type gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:9543574|REF_RGD_ID:11541055 12397281 PLAT plasminogen activator, tissue type gene DOID:11162 respiratory failure ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25331496 12397281 PLAT plasminogen activator, tissue type gene DOID:11247 disseminated intravascular coagulation ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:23726093|REF_RGD_ID:11541052 12397281 PLAT plasminogen activator, tissue type gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:3342 D RGD:9068941 20200609 RGD associated with Jaundice, Obstructive PMID:1425827|REF_RGD_ID:11541087 12397281 PLAT plasminogen activator, tissue type gene DOID:11446 sciatic neuropathy ISO RGD:3342 D RGD:9068941 20200609 RGD PMID:18716863|REF_RGD_ID:6483827 12397281 PLAT plasminogen activator, tissue type gene DOID:115 cardiac tamponade ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9633741 12397281 PLAT plasminogen activator, tissue type gene DOID:11713 diabetic angiopathy ISO RGD:736468 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:18945481|REF_RGD_ID:2311663 12397281 PLAT plasminogen activator, tissue type gene DOID:11714 gestational diabetes ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:17259140|REF_RGD_ID:2311668 12397281 PLAT plasminogen activator, tissue type gene DOID:118 pericardial effusion ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9633741 12397281 PLAT plasminogen activator, tissue type gene DOID:11847 coronary thrombosis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1452937|PMID:15301905|PMID:8172379 12397281 PLAT plasminogen activator, tissue type gene DOID:12134 factor VIII deficiency treatment ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:1419807|REF_RGD_ID:11552591 12397281 PLAT plasminogen activator, tissue type gene DOID:1247 blood coagulation disease ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:1420814|REF_RGD_ID:11541080 12397281 PLAT plasminogen activator, tissue type gene DOID:12554 hemolytic-uremic syndrome ISO RGD:736468 D RGD:9068941 20200609 RGD associated with Escherichia coli Infections;protein:increased expression:plasma (human) PMID:11777999|REF_RGD_ID:11541069 12397281 PLAT plasminogen activator, tissue type gene DOID:13100 intracranial vasospasm ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19057314|PMID:29651748 12397281 PLAT plasminogen activator, tissue type gene DOID:1461 cholesterol embolism ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7939511 12397281 PLAT plasminogen activator, tissue type gene DOID:1558 angioedema ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16184341|PMID:18453163|PMID:20547619 12397281 PLAT plasminogen activator, tissue type gene DOID:1824 status epilepticus ISO RGD:3342 D RGD:9068941 20200609 RGD PMID:17040480|REF_RGD_ID:6484215 12397281 PLAT plasminogen activator, tissue type gene DOID:1936 atherosclerosis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12677255 12397281 PLAT plasminogen activator, tissue type gene DOID:2213 hemorrhagic disease ISO RGD:736468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 12397281 PLAT plasminogen activator, tissue type gene DOID:224 transient cerebral ischemia ISO RGD:3342 D RGD:9068941 20200609 RGD Protein:increased expression, increased activity:hippocampus (rat) PMID:15882815|REF_RGD_ID:1580875 12397281 PLAT plasminogen activator, tissue type gene DOID:2316 brain ischemia ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10572812|PMID:11108748|PMID:11940547|PMID:12221155|PMID:12511774|PMID:14986460|PMID:15017018|PMID:15087567|PMID:16126134|PMID:16763187|PMID:16809570|PMID:17086147|PMID:17525387|PMID:17903870|PMID:20123226|PMID:20212195|PMID:20488584|PMID:20536612|PMID:21037505|PMID:23876515|PMID:7477192|PMID:9259745|PMID:9400355|PMID:9479658|PMID:9566367|PMID:9633741 12397281 PLAT plasminogen activator, tissue type gene DOID:2316 brain ischemia no_association ISO RGD:736468 D RGD:9068941 20200609 RGD DNA:polymorphism:-7351C>T (human) PMID:16179568|REF_RGD_ID:1580879 12397281 PLAT plasminogen activator, tissue type gene DOID:2945 severe acute respiratory syndrome ISO RGD:736468 D RGD:9068941 20200625 RGD protein:increased expression:plasma (human) PMID:16274108|REF_RGD_ID:30309949 12397281 PLAT plasminogen activator, tissue type gene DOID:2988 antiphospholipid syndrome ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:16320350|REF_RGD_ID:1580877 12397281 PLAT plasminogen activator, tissue type gene DOID:3021 acute kidney failure ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:9767551|REF_RGD_ID:11541071 12397281 PLAT plasminogen activator, tissue type gene DOID:3042 allergic contact dermatitis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 12397281 PLAT plasminogen activator, tissue type gene DOID:3454 brain infarction ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16190367 12397281 PLAT plasminogen activator, tissue type gene DOID:3490 Noonan syndrome ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased activity:blood: PMID:20686427|REF_RGD_ID:13207331 12397281 PLAT plasminogen activator, tissue type gene DOID:3525 middle cerebral artery infarction ISO RGD:3342 D RGD:9068941 20200609 RGD PMID:14512838|REF_RGD_ID:1580876 12397281 PLAT plasminogen activator, tissue type gene DOID:3525 middle cerebral artery infarction ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12297567|PMID:17690543|PMID:18453163|PMID:20547619|PMID:29651748 12397281 PLAT plasminogen activator, tissue type gene DOID:3526 cerebral infarction ISO RGD:736468 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1579960|PMID:16148626|PMID:18195371|PMID:18544249|PMID:1899364|PMID:9183334 12397281 PLAT plasminogen activator, tissue type gene DOID:3602 toxic encephalopathy ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19442825 12397281 PLAT plasminogen activator, tissue type gene DOID:3650 lactic acidosis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25331496 12397281 PLAT plasminogen activator, tissue type gene DOID:4074 pancreatic adenocarcinoma ISO RGD:736468 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (human) PMID:16733850|REF_RGD_ID:11541045 12397281 PLAT plasminogen activator, tissue type gene DOID:4193 intracranial thrombosis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8678742 12397281 PLAT plasminogen activator, tissue type gene DOID:4724 brain edema ISO RGD:3342 D RGD:9068941 20200609 RGD associated with Burns;mRNA:increased expression:brain PMID:18718505|REF_RGD_ID:6483826 12397281 PLAT plasminogen activator, tissue type gene DOID:4724 brain edema ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29651748 12397281 PLAT plasminogen activator, tissue type gene DOID:5844 myocardial infarction ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10171637|PMID:10505926|PMID:10645301|PMID:10914357|PMID:11382373|PMID:11489769|PMID:12074692|PMID:12227717|PMID:12848087|PMID:1430592|PMID:1492007|PMID:15215796|PMID:15301905|PMID:18195371|PMID:1898952|PMID:1899364|PMID:1900011|PMID:19341228|PMID:20122609|PMID:2104561|PMID:2105625|PMID:2494454|PMID:2505604|PMID:2521976|PMID:3089627|PMID:3121335|PMID:7488445|PMID:7723950|PMID:7775709|PMID:7902905|PMID:8328192|PMID:8554022|PMID:8598594|PMID:9183334 12397281 PLAT plasminogen activator, tissue type gene DOID:5844 myocardial infarction ISO RGD:736468 D RGD:9068941 20200609 RGD DNA:snp:enhancer:g.-7351C>T (human) PMID:11848437|REF_RGD_ID:1580881 12397281 PLAT plasminogen activator, tissue type gene DOID:5844 myocardial infarction treatment ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:7994806|REF_RGD_ID:11541077 12397281 PLAT plasminogen activator, tissue type gene DOID:6000 congestive heart failure ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 12397281 PLAT plasminogen activator, tissue type gene DOID:615 leukopenia ISO RGD:736468 D RGD:9068941 20200609 RGD associated with Sepsis;protein:decreased expression:plasma (human) PMID:7646991|REF_RGD_ID:11552575 12397281 PLAT plasminogen activator, tissue type gene DOID:630 genetic disease ISO RGD:736468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397281 PLAT plasminogen activator, tissue type gene DOID:670 amphetamine abuse ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15659235 12397281 PLAT plasminogen activator, tissue type gene DOID:8283 peritonitis ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:18571586|REF_RGD_ID:6484139 12397281 PLAT plasminogen activator, tissue type gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:2129164|REF_RGD_ID:11541072 12397281 PLAT plasminogen activator, tissue type gene DOID:9000158 Spinal Epidural Hematoma ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10914357|PMID:12227717 12397281 PLAT plasminogen activator, tissue type gene DOID:9001268 Embolism and Thrombosis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9684808 12397281 PLAT plasminogen activator, tissue type gene DOID:9001521 Subdural Hematoma ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1899364 12397281 PLAT plasminogen activator, tissue type gene DOID:9001553 Spinal Cord Compression ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12227717 12397281 PLAT plasminogen activator, tissue type gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3342 D RGD:9068941 20200609 RGD PMID:20035854|REF_RGD_ID:6484134 12397281 PLAT plasminogen activator, tissue type gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12397281 PLAT plasminogen activator, tissue type gene DOID:9001600 Wounds and Injuries ISO RGD:3342 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:25423126|REF_RGD_ID:11541076 12397281 PLAT plasminogen activator, tissue type gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8763515 12397281 PLAT plasminogen activator, tissue type gene DOID:9002079 Paresis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12690208 12397281 PLAT plasminogen activator, tissue type gene DOID:9002165 Diabetic Nephropathies ISO RGD:736468 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:16598198|REF_RGD_ID:2311671 12397281 PLAT plasminogen activator, tissue type gene DOID:9002314 Acute Traumatic Coagulopathy ISO RGD:3342 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:25676919|REF_RGD_ID:11554180 12397281 PLAT plasminogen activator, tissue type gene DOID:9002314 Acute Traumatic Coagulopathy treatment ISO RGD:3342 D RGD:9068941 20200609 RGD PMID:25325345|REF_RGD_ID:11554179 12397281 PLAT plasminogen activator, tissue type gene DOID:9002522 Embolism ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16148626 12397281 PLAT plasminogen activator, tissue type gene DOID:9002669 Hypoxia ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25331496 12397281 PLAT plasminogen activator, tissue type gene DOID:9002676 Cerebral Hemorrhage ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10501537|PMID:11113218|PMID:11940547|PMID:1430592|PMID:14630814|PMID:1579960|PMID:16126134|PMID:16190367|PMID:16908730|PMID:17690543|PMID:18346647|PMID:18369171|PMID:18753474|PMID:1899364|PMID:19095969|PMID:20212195|PMID:21088392|PMID:22436003|PMID:23876515|PMID:29651748|PMID:7477192|PMID:7723950|PMID:8969996|PMID:9836764 12397281 PLAT plasminogen activator, tissue type gene DOID:9002676 Cerebral Hemorrhage severity ISO RGD:732079 D RGD:9068941 20200609 RGD associated with Brain Injuries PMID:25673638|REF_RGD_ID:11541064 12397281 PLAT plasminogen activator, tissue type gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:3342 D RGD:9068941 20200609 RGD human protein in a rat model PMID:12220690|REF_RGD_ID:11537477 12397281 PLAT plasminogen activator, tissue type gene DOID:9002906 Multiple Organ Failure ISO RGD:3342 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:16977483|REF_RGD_ID:11081009 12397281 PLAT plasminogen activator, tissue type gene DOID:9002955 Nerve Degeneration ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19911010 12397281 PLAT plasminogen activator, tissue type gene DOID:9003049 Femur Head Necrosis ISO RGD:736468 D RGD:9068941 20200609 RGD DNA:insertion:intron:IVS8 (human) PMID:24025446|REF_RGD_ID:11541046 12397281 PLAT plasminogen activator, tissue type gene DOID:9003104 Intracranial Hemorrhages ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11320361|PMID:12230423|PMID:15017018|PMID:15215796|PMID:15557913|PMID:17612434|PMID:17687131|PMID:17903947|PMID:20123226|PMID:20536612|PMID:2104561|PMID:3168586|PMID:7902905|PMID:8961984 12397281 PLAT plasminogen activator, tissue type gene DOID:9003121 Thromboembolism ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8451030 12397281 PLAT plasminogen activator, tissue type gene DOID:9003505 Venous Thromboembolism ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16167916 12397281 PLAT plasminogen activator, tissue type gene DOID:9003646 Arterial Thrombosis ISO RGD:736468 D RGD:9068941 20200609 RGD associated with Antiphospholipid Syndrome PMID:14630788|REF_RGD_ID:11541057 12397281 PLAT plasminogen activator, tissue type gene DOID:9003646 Arterial Thrombosis treatment ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:24806322|REF_RGD_ID:11541078 12397281 PLAT plasminogen activator, tissue type gene DOID:9003669 Low Back Pain ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7888893 12397281 PLAT plasminogen activator, tissue type gene DOID:9003676 Brain Hypoxia-Ischemia onset ISO RGD:3342 D RGD:9068941 20200609 RGD PMID:18467699|REF_RGD_ID:6483831 12397281 PLAT plasminogen activator, tissue type gene DOID:9003736 Central Nervous System Viral Diseases ISO RGD:3342 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum (rat) PMID:19279110|REF_RGD_ID:11537478 12397281 PLAT plasminogen activator, tissue type gene DOID:9003814 Neurologic Manifestations ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:22436003|PMID:23876515|PMID:29651748 12397281 PLAT plasminogen activator, tissue type gene DOID:9003871 Venous Thrombosis ISO RGD:736468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 12397281 PLAT plasminogen activator, tissue type gene DOID:9004009 Reperfusion Injury ISO RGD:3342 D RGD:9068941 20200609 RGD PMID:15223382|REF_RGD_ID:2311674 12397281 PLAT plasminogen activator, tissue type gene DOID:9004009 Reperfusion Injury ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9472885 12397281 PLAT plasminogen activator, tissue type gene DOID:9004283 Transplant Rejection susceptibility ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:11423054|REF_RGD_ID:11541079 12397281 PLAT plasminogen activator, tissue type gene DOID:9004484 Sepsis treatment ISO RGD:3342 D RGD:9068941 20200609 RGD PMID:12000738|REF_RGD_ID:1598921 12397281 PLAT plasminogen activator, tissue type gene DOID:9005036 Bacteremia ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1430592 12397281 PLAT plasminogen activator, tissue type gene DOID:9005700 Airway Obstruction ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25331496 12397281 PLAT plasminogen activator, tissue type gene DOID:9005741 Intracranial Embolism and Thrombosis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7482654|PMID:8427107 12397281 PLAT plasminogen activator, tissue type gene DOID:9005930 Endotoxemia treatment ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:9091588|REF_RGD_ID:11541073 12397281 PLAT plasminogen activator, tissue type gene DOID:9006024 Hypotension ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1492007 12397281 PLAT plasminogen activator, tissue type gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3342 D RGD:9068941 20200609 RGD protein:increased expression:heart right ventricle, heart left ventricle (rat) PMID:9405184|REF_RGD_ID:11080746 12397281 PLAT plasminogen activator, tissue type gene DOID:9006182 Carotid Artery Injuries ISO RGD:3342 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:carotid artery (rat) PMID:8343497|REF_RGD_ID:11537479 12397281 PLAT plasminogen activator, tissue type gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15557913 12397281 PLAT plasminogen activator, tissue type gene DOID:9006646 Metabolic Syndrome ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18249307|REF_RGD_ID:2311664 12397281 PLAT plasminogen activator, tissue type gene DOID:9006924 Cardiogenic Shock ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1430592 12397281 PLAT plasminogen activator, tissue type gene DOID:9007096 Stroke ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10171637|PMID:10346413|PMID:10436095|PMID:10572812|PMID:11061250|PMID:11108748|PMID:11113218|PMID:11239184|PMID:11739841|PMID:11940547|PMID:12221155|PMID:12230423|PMID:12384244|PMID:12511774|PMID:14581697|PMID:14657446|PMID:14986460|PMID:15016487|PMID:15017018|PMID:15087567|PMID:1598096|PMID:16126134|PMID:16184341|PMID:16763187|PMID:16809570|PMID:16908730|PMID:17086147|PMID:17525387|PMID:17612434|PMID:17903870|PMID:17903947|PMID:18346647|PMID:18369171|PMID:18560214|PMID:18753472|PMID:18753474|PMID:19286598|PMID:20123226|PMID:20212195|PMID:20488584|PMID:20536612|PMID:20705933|PMID:2124386|PMID:23876515|PMID:2514002|PMID:25245553|PMID:7477192|PMID:8427107|PMID:8598594|PMID:9056608|PMID:9259745|PMID:9400355|PMID:9472885|PMID:9479657|PMID:9479658|PMID:9566367|PMID:9633741|PMID:9707184|PMID:9836764|PMID:9933289 12397281 PLAT plasminogen activator, tissue type gene DOID:9007096 Stroke ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:17689411|PMID:7477192|REF_RGD_ID:2311666|REF_RGD_ID:9698433 12397281 PLAT plasminogen activator, tissue type gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22507835 12397281 PLAT plasminogen activator, tissue type gene DOID:9007730 Burns ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:11525850|REF_RGD_ID:11541048 12397281 PLAT plasminogen activator, tissue type gene DOID:9007923 Back Pain ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12227717 12397281 PLAT plasminogen activator, tissue type gene DOID:9008212 Diabetic Foot ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:17275886|REF_RGD_ID:2311669 12397281 PLAT plasminogen activator, tissue type gene DOID:9008217 Hemorrhage ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15016487|PMID:15502123|PMID:22507835|PMID:2514002|PMID:8082347|PMID:8427107|PMID:9199818|PMID:9266785 12397281 PLAT plasminogen activator, tissue type gene DOID:9008510 Chronic Hepatitis ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:1909901|REF_RGD_ID:11541068 12397281 PLAT plasminogen activator, tissue type gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:736468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 12397281 PLAT plasminogen activator, tissue type gene DOID:9352 type 2 diabetes mellitus ISO RGD:3342 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:14693179|REF_RGD_ID:2311675 12397281 PLAT plasminogen activator, tissue type gene DOID:9352 type 2 diabetes mellitus ISO RGD:3342 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (rat) PMID:10899350|REF_RGD_ID:1598920 12397281 PLAT plasminogen activator, tissue type gene DOID:9352 type 2 diabetes mellitus ISO RGD:732079 D RGD:9068941 20200609 RGD PMID:16038272|REF_RGD_ID:2311672 12397281 PLAT plasminogen activator, tissue type gene DOID:9352 type 2 diabetes mellitus ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:16724515|PMID:18235054|REF_RGD_ID:2311665|REF_RGD_ID:2311670 12397281 PLAT plasminogen activator, tissue type gene DOID:9352 type 2 diabetes mellitus ISO RGD:736468 D RGD:9068941 20200609 RGD associated with Obesity PMID:15901895|REF_RGD_ID:2311673 12397281 PLAT plasminogen activator, tissue type gene DOID:9477 pulmonary embolism ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1899825|PMID:19415734|PMID:2123154|PMID:3105914|PMID:3122266|PMID:8082347|PMID:8451030|PMID:9199818|PMID:9266785 12397281 PLAT plasminogen activator, tissue type gene DOID:9743 diabetic neuropathy ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:17636064|REF_RGD_ID:2311667 12397281 PLAT plasminogen activator, tissue type gene DOID:9744 type 1 diabetes mellitus ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:14652638|REF_RGD_ID:2311676 12397281 PLAT plasminogen activator, tissue type gene DOID:9970 obesity ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:12818410|REF_RGD_ID:2311677 12397299 OR4C10C olfactory receptor family 4 subfamily C member 10C gene DOID:1059 intellectual disability ISO RGD:1343294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12397299 OR4C10C olfactory receptor family 4 subfamily C member 10C gene DOID:5419 schizophrenia ISO RGD:1343294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12397299 OR4C10C olfactory receptor family 4 subfamily C member 10C gene DOID:630 genetic disease ISO RGD:1343294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397303 HARBI1 harbinger transposase derived 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1601808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12397303 HARBI1 harbinger transposase derived 1 gene DOID:1059 intellectual disability ISO RGD:1601808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12397303 HARBI1 harbinger transposase derived 1 gene DOID:630 genetic disease ISO RGD:1601808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397303 HARBI1 harbinger transposase derived 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1601808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12397322 KAT5 lysine acetyltransferase 5 gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:732354 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:25741868 12397322 KAT5 lysine acetyltransferase 5 gene DOID:0111669 hyaline fibromatosis syndrome ISO RGD:732354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyaline fibromatosis syndrome PMID:25741868 12397322 KAT5 lysine acetyltransferase 5 gene DOID:1059 intellectual disability ISO RGD:732354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12397322 KAT5 lysine acetyltransferase 5 gene DOID:11758 iron deficiency anemia ISO RGD:621061 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:18723004|REF_RGD_ID:2301196 12397322 KAT5 lysine acetyltransferase 5 gene DOID:1612 breast cancer severity ISO RGD:732354 D RGD:9068941 20200609 RGD mRNA:altered expression:breast (human) PMID:22199269|REF_RGD_ID:9586031 12397322 KAT5 lysine acetyltransferase 5 gene DOID:1790 malignant mesothelioma ISO RGD:732354 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:26780987 12397322 KAT5 lysine acetyltransferase 5 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12397322 KAT5 lysine acetyltransferase 5 gene DOID:2746 glycogen storage disease V ISO RGD:732354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12397322 KAT5 lysine acetyltransferase 5 gene DOID:630 genetic disease ISO RGD:732354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397322 KAT5 lysine acetyltransferase 5 gene DOID:707 B-cell lymphoma severity ISO RGD:1550306 D RGD:9068941 20200609 RGD PMID:17728759|REF_RGD_ID:9588481 12397322 KAT5 lysine acetyltransferase 5 gene DOID:9000615 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES ISO RGD:732354 D RGD:7240710 20210120 OMIM 12397322 KAT5 lysine acetyltransferase 5 gene DOID:9000615 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES ISO RGD:732354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities PMID:25741868|PMID:32822602 12397322 KAT5 lysine acetyltransferase 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732354 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, nucleus (human) PMID:23056207|REF_RGD_ID:9588480 12397322 KAT5 lysine acetyltransferase 5 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:732354 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12397322 KAT5 lysine acetyltransferase 5 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:732354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:25741868|PMID:28492532|PMID:28600438 12397351 SEMA4G semaphorin 4G gene DOID:630 genetic disease ISO RGD:1321336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397376 MMRN1 multimerin 1 gene DOID:630 genetic disease ISO RGD:1352887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397388 BHLHA15 basic helix-loop-helix family member a15 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:737550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12397388 BHLHA15 basic helix-loop-helix family member a15 gene DOID:630 genetic disease ISO RGD:737550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397394 VPS53 VPS53 subunit of GARP complex gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1605366 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:24577744|PMID:25741868|PMID:30100179 12397394 VPS53 VPS53 subunit of GARP complex gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1605366 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:24577744|PMID:25741868|PMID:30100179 12397394 VPS53 VPS53 subunit of GARP complex gene DOID:0060271 pontocerebellar hypoplasia type 2E ISO RGD:1605366 D RGD:7240710 20180130 OMIM 12397394 VPS53 VPS53 subunit of GARP complex gene DOID:0060271 pontocerebellar hypoplasia type 2E ISO RGD:1605366 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2E PMID:12920088|PMID:24577744|PMID:25741868|PMID:28492532|PMID:28567303|PMID:30100179 12397394 VPS53 VPS53 subunit of GARP complex gene DOID:10907 microcephaly ISO RGD:1605366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12397394 VPS53 VPS53 subunit of GARP complex gene DOID:630 genetic disease ISO RGD:1605366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397394 VPS53 VPS53 subunit of GARP complex gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605366 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868 12397425 ASB13 ankyrin repeat and SOCS box containing 13 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1321264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12397425 ASB13 ankyrin repeat and SOCS box containing 13 gene DOID:5419 schizophrenia ISO RGD:1321264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12397425 ASB13 ankyrin repeat and SOCS box containing 13 gene DOID:630 genetic disease ISO RGD:1321264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397438 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1343816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:25741868|PMID:28492532 12397438 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:0060022 CD40 ligand deficiency ISO RGD:1343816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12397438 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12397438 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:0060825 Christianson syndrome ISO RGD:1343816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12397438 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:1343816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:25741868 12397438 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:0112055 non-syndromic X-linked intellectual disability 46 ISO RGD:1343816 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked 46 PMID:11017088|PMID:18414213|PMID:25741868|PMID:28492532 12397438 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:1059 intellectual disability ISO RGD:1343816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12397438 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:1059 intellectual disability susceptibility ISO RGD:1343816 D RGD:9068941 20200609 RGD PMID:11017088|REF_RGD_ID:1599214 12397438 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:12849 autistic disorder ISO RGD:1343816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12397438 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:630 genetic disease ISO RGD:1343816 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 12397438 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1343816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12397438 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:9002704 Leukoencephalopathies ISO RGD:1343816 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CACH/VWM syndrome PMID:25741868 12397438 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1343816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12397438 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343816 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ARHGEF6-associated Neurodevelopmental disorder 12397438 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:9005348 Leukoencephalopathy with Vanishing White Matter 1 ISO RGD:1343816 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1 PMID:25741868 12397438 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:9007823 Chromosome Xq26.3 Duplication Syndrome ISO RGD:1343816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome PMID:25712922|PMID:26935837 12397476 THBS3 thrombospondin 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1314326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12397476 THBS3 thrombospondin 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1314326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12397476 THBS3 thrombospondin 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12397476 THBS3 thrombospondin 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314326 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12397476 THBS3 thrombospondin 3 gene DOID:10283 prostate cancer ISO RGD:1314326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12397476 THBS3 thrombospondin 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1314326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12397476 THBS3 thrombospondin 3 gene DOID:5812 MHC class II deficiency ISO RGD:1314326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12397476 THBS3 thrombospondin 3 gene DOID:630 genetic disease ISO RGD:1314326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397476 THBS3 thrombospondin 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12397504 TMED10 transmembrane p24 trafficking protein 10 gene DOID:1059 intellectual disability ISO RGD:731656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12397504 TMED10 transmembrane p24 trafficking protein 10 gene DOID:10652 Alzheimer's disease ISO RGD:731656 D RGD:9068941 20200609 RGD protein:decreased expression:brain cortex (human) PMID:18652896|REF_RGD_ID:2317276 12397504 TMED10 transmembrane p24 trafficking protein 10 gene DOID:630 genetic disease ISO RGD:731656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397513 DCUN1D4 defective in cullin neddylation 1 domain containing 4 gene DOID:630 genetic disease ISO RGD:1604387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397559 NFU1 NFU1 iron-sulfur cluster scaffold gene DOID:0070330 multiple mitochondrial dysfunctions syndrome ISO RGD:1317241 D RGD:8554872 20220621 ClinVar ClinVar Annotator: match by term: Fatal multiple mitochondrial dysfunctions syndrome 12397559 NFU1 NFU1 iron-sulfur cluster scaffold gene DOID:0080133 multiple mitochondrial dysfunctions syndrome 1 ISO RGD:1317241 D RGD:7240710 20180130 OMIM 12397559 NFU1 NFU1 iron-sulfur cluster scaffold gene DOID:0080133 multiple mitochondrial dysfunctions syndrome 1 ISO RGD:1317241 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 1 PMID:11156534|PMID:16199547|PMID:17576681|PMID:21944046|PMID:22077971|PMID:24033266|PMID:25477904|PMID:25640679|PMID:25741868|PMID:25758857|PMID:25918518|PMID:28161430|PMID:28470589|PMID:28492532|PMID:28803783|PMID:29441221|PMID:31461310|PMID:31970900|PMID:9536098 12397559 NFU1 NFU1 iron-sulfur cluster scaffold gene DOID:630 genetic disease ISO RGD:1317241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12397599 OR5T1 olfactory receptor family 5 subfamily T member 1 gene DOID:1059 intellectual disability ISO RGD:1354464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12397599 OR5T1 olfactory receptor family 5 subfamily T member 1 gene DOID:630 genetic disease ISO RGD:1354464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397604 SATB2 SATB homeobox 2 gene DOID:0050753 cerebellar ataxia ISO RGD:1343440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 12397604 SATB2 SATB homeobox 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1343440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12397604 SATB2 SATB homeobox 2 gene DOID:0060428 SATB2-associated syndrome ISO RGD:1343440 D RGD:7240710 20180130 OMIM 12397604 SATB2 SATB homeobox 2 gene DOID:0060428 SATB2-associated syndrome ISO RGD:1343440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Chromosome 2q32-q33 deletion syndrome | ClinVar Annotator: match by term: SATB2 associated disorder | ClinVar Annotator: match by term: SATB2-Related Disorder PMID:16199547|PMID:17377962|PMID:17576681|PMID:21343628|PMID:23788249|PMID:23925499|PMID:24301056|PMID:24884844|PMID:25118029|PMID:25251319|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25533962|PMID:25640679|PMID:25741868|PMID:25885067|PMID:26596517|PMID:26944241|PMID:27774744|PMID:28135719|PMID:28139846|PMID:28151491|PMID:28211976|PMID:28492532|PMID:28708303|PMID:28787087|PMID:29023086|PMID:29436146|PMID:29987015|PMID:30575289|PMID:31021519|PMID:31302918|PMID:31849593|PMID:32581362|PMID:33004838|PMID:33624935|PMID:9536098 12397604 SATB2 SATB homeobox 2 gene DOID:0110213 isolated cleft palate ISO RGD:1343440 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Isolated cleft palate PMID:25326635|PMID:25533962|PMID:25741868|PMID:25885067|PMID:26596517|PMID:28151491|PMID:28211976|PMID:28492532|PMID:29023086|PMID:32581362 12397604 SATB2 SATB homeobox 2 gene DOID:1059 intellectual disability ISO RGD:1343440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:17377962|PMID:23925499|PMID:24301056|PMID:25741868|PMID:25885067|PMID:28151491|PMID:28492532|PMID:29023086 12397604 SATB2 SATB homeobox 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1343440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 12397604 SATB2 SATB homeobox 2 gene DOID:543 dystonia ISO RGD:1343440 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25326635|PMID:25533962|PMID:25741868|PMID:25885067|PMID:26596517|PMID:28151491|PMID:28211976|PMID:28492532|PMID:29023086|PMID:32581362 12397604 SATB2 SATB homeobox 2 gene DOID:630 genetic disease ISO RGD:1343440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12915443|PMID:17576681|PMID:18187506|PMID:21089028|PMID:24884844|PMID:25326635|PMID:25356970|PMID:25533962|PMID:25662172|PMID:25741868|PMID:25885067|PMID:26596517|PMID:26944241|PMID:27409069|PMID:27462121|PMID:28139846|PMID:28151491|PMID:28211976|PMID:28492532|PMID:29023086|PMID:29436146|PMID:30575289|PMID:31021519|PMID:31302918|PMID:32581362|PMID:9536098 12397604 SATB2 SATB homeobox 2 gene DOID:674 cleft palate ISO RGD:1343440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:17377962|PMID:23925499|PMID:24301056|PMID:25741868|PMID:25885067|PMID:28492532|PMID:29023086 12397604 SATB2 SATB homeobox 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12397604 SATB2 SATB homeobox 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1343440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26780400 12397604 SATB2 SATB homeobox 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1343440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:29987015|PMID:31849593 12397604 SATB2 SATB homeobox 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1343440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 12397604 SATB2 SATB homeobox 2 gene DOID:9008582 Developmental Disease ISO RGD:1343440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12397604 SATB2 SATB homeobox 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1343440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16960803 12397634 MIR514 microRNA mir-514 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:4109060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12397634 MIR514 microRNA mir-514 gene DOID:12849 autistic disorder ISO RGD:4109060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12397682 ZNF252 zinc finger protein 252 gene DOID:630 genetic disease ISO RGD:1348977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397715 RPS18 ribosomal protein S18 gene DOID:0050553 JMP syndrome ISO RGD:1342484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12397715 RPS18 ribosomal protein S18 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1342484 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 12397725 FUT5 fucosyltransferase 5 (alpha (1,3) fucosyltransferase) gene DOID:630 genetic disease ISO RGD:1350852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397725 FUT5 fucosyltransferase 5 (alpha (1,3) fucosyltransferase) gene DOID:9003153 FUCOSYLTRANSFERASE 6 DEFICIENCY ISO RGD:1350852 D RGD:7240710 20180130 OMIM 12397725 FUT5 fucosyltransferase 5 (alpha (1,3) fucosyltransferase) gene DOID:9003153 FUCOSYLTRANSFERASE 6 DEFICIENCY ISO RGD:1350852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fucosyltransferase 6 deficiency PMID:25741868|PMID:8175676 12397728 PIGR polymeric immunoglobulin receptor gene DOID:0050589 inflammatory bowel disease ISO RGD:737525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 12397728 PIGR polymeric immunoglobulin receptor gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:737525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 12397728 PIGR polymeric immunoglobulin receptor gene DOID:12849 autistic disorder ISO RGD:737525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12397728 PIGR polymeric immunoglobulin receptor gene DOID:1540 parathyroid carcinoma ISO RGD:737525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12397728 PIGR polymeric immunoglobulin receptor gene DOID:2986 IgA glomerulonephritis ISO RGD:737525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: IgA glomerulonephritis PMID:12740691|PMID:16282702 12397728 PIGR polymeric immunoglobulin receptor gene DOID:630 genetic disease ISO RGD:737525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397728 PIGR polymeric immunoglobulin receptor gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:737525 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12397728 PIGR polymeric immunoglobulin receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12397743 PPT2 palmitoyl-protein thioesterase 2 gene DOID:0050553 JMP syndrome ISO RGD:731722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12397743 PPT2 palmitoyl-protein thioesterase 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735972 D RGD:9068941 20200609 RGD PMID:11717424|REF_RGD_ID:734785 12397743 PPT2 palmitoyl-protein thioesterase 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735972 D RGD:9068941 20220825 MouseDO 12397743 PPT2 palmitoyl-protein thioesterase 2 gene DOID:630 genetic disease ISO RGD:731722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397769 SECISBP2 SECIS binding protein 2 gene DOID:630 genetic disease ISO RGD:1343356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397769 SECISBP2 SECIS binding protein 2 gene DOID:9002068 Abnormal Thyroid Hormone Metabolism 1 ISO RGD:1343356 D RGD:7240710 20180130 OMIM 12397769 SECISBP2 SECIS binding protein 2 gene DOID:9002068 Abnormal Thyroid Hormone Metabolism 1 ISO RGD:1343356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid hormone metabolism, abnormal 1 PMID:16228000|PMID:24033266|PMID:25741868|PMID:29882503 12397769 SECISBP2 SECIS binding protein 2 gene DOID:9006257 Growth Disorders ISO RGD:1343356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19602558 12397769 SECISBP2 SECIS binding protein 2 gene DOID:9252 amino acid metabolic disorder ISO RGD:1343356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16228000 12397808 APOC1 apolipoprotein C1 gene DOID:10652 Alzheimer's disease ISO RGD:735472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29107063|PMID:30319691 12397808 APOC1 apolipoprotein C1 gene DOID:10652 Alzheimer's disease ISO RGD:735472 D RGD:9068941 20200609 RGD PMID:11825674|REF_RGD_ID:1578472 12397808 APOC1 apolipoprotein C1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:735472 D RGD:9068941 20200609 RGD PMID:15876873|REF_RGD_ID:2325793 12397808 APOC1 apolipoprotein C1 gene DOID:3717 gastric adenocarcinoma ISO RGD:735472 D RGD:9068941 20220901 RGD protein:decreased expression:serum PMID:21267442|REF_RGD_ID:153344621 12397808 APOC1 apolipoprotein C1 gene DOID:6000 congestive heart failure ISO RGD:735472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 12397808 APOC1 apolipoprotein C1 gene DOID:630 genetic disease ISO RGD:735472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397808 APOC1 apolipoprotein C1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735472 D RGD:9068941 20220908 RGD associated with hepatitis B; PMID:31211449|REF_RGD_ID:153350082 12397808 APOC1 apolipoprotein C1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:735472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:very-low-density lipoprotein particle PMID:12753304|REF_RGD_ID:2313950 12397808 APOC1 apolipoprotein C1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:735472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:3757210|REF_RGD_ID:2313953 12397808 APOC1 apolipoprotein C1 gene DOID:9007692 Insulin Resistance ISO RGD:735472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:11723061|REF_RGD_ID:2313951 12397808 APOC1 apolipoprotein C1 gene DOID:9008023 Memory Disorders ISO RGD:735472 D RGD:9068941 20200609 RGD PMID:11714102|REF_RGD_ID:1578426 12397808 APOC1 apolipoprotein C1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735472 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:3757210|REF_RGD_ID:2313953 12397808 APOC1 apolipoprotein C1 gene DOID:9970 obesity ISO RGD:735472 D RGD:9068941 20200609 RGD PMID:11723061|REF_RGD_ID:2313951 12397816 TMEM45B transmembrane protein 45B gene DOID:0111723 Jacobsen Syndrome ISO RGD:1348060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12397816 TMEM45B transmembrane protein 45B gene DOID:5419 schizophrenia ISO RGD:1348060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12397816 TMEM45B transmembrane protein 45B gene DOID:630 genetic disease ISO RGD:1348060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397816 TMEM45B transmembrane protein 45B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12397816 TMEM45B transmembrane protein 45B gene DOID:9007661 Dwarfism ISO RGD:1348060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12397833 COP1 COP1 E3 ubiquitin ligase gene DOID:12849 autistic disorder ISO RGD:1346229 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19404257 12397833 COP1 COP1 E3 ubiquitin ligase gene DOID:1540 parathyroid carcinoma ISO RGD:1346229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12397833 COP1 COP1 E3 ubiquitin ligase gene DOID:3755 antithrombin III deficiency ISO RGD:1346229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 12397833 COP1 COP1 E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1346229 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397833 COP1 COP1 E3 ubiquitin ligase gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1346229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12397833 COP1 COP1 E3 ubiquitin ligase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12397865 LOC480441 ras-related protein Rap-2a-like gene DOID:1059 intellectual disability ISO RGD:1343615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12397865 LOC480441 ras-related protein Rap-2a-like gene DOID:630 genetic disease ISO RGD:1343615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397865 LOC480441 ras-related protein Rap-2a-like gene DOID:684 hepatocellular carcinoma ISO RGD:1343615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12397870 MORN5 MORN repeat containing 5 gene DOID:630 genetic disease ISO RGD:1317107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397903 TRPV6 transient receptor potential cation channel subfamily V member 6 gene DOID:11612 polycystic ovary syndrome ISO RGD:731367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12397903 TRPV6 transient receptor potential cation channel subfamily V member 6 gene DOID:13543 hyperparathyroidism ISO RGD:731367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism PMID:25741868|PMID:30144375 12397903 TRPV6 transient receptor potential cation channel subfamily V member 6 gene DOID:630 genetic disease ISO RGD:731367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397903 TRPV6 transient receptor potential cation channel subfamily V member 6 gene DOID:9004047 Transient Neonatal Hyperparathyroidism ISO RGD:731367 D RGD:7240710 20190315 OMIM 12397903 TRPV6 transient receptor potential cation channel subfamily V member 6 gene DOID:9004047 Transient Neonatal Hyperparathyroidism ISO RGD:731367 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism, transient neonatal PMID:25741868|PMID:25741888|PMID:27296226|PMID:28492532|PMID:28878326|PMID:29258289|PMID:29861107|PMID:30820485 12397942 MSGN1 mesogenin 1 gene DOID:4450 renal cell carcinoma ISO RGD:1602271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 12397942 MSGN1 mesogenin 1 gene DOID:630 genetic disease ISO RGD:1602271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397945 ASF1B anti-silencing function 1B histone chaperone gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1312634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 12397945 ASF1B anti-silencing function 1B histone chaperone gene DOID:1612 breast cancer disease_progression ISO RGD:1312634 D RGD:9068941 20200609 RGD PMID:21179005|REF_RGD_ID:9586017 12397945 ASF1B anti-silencing function 1B histone chaperone gene DOID:630 genetic disease ISO RGD:1312634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397945 ASF1B anti-silencing function 1B histone chaperone gene DOID:684 hepatocellular carcinoma ISO RGD:1312634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12397953 PLS1 plastin 1 gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:1316159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA | ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing impairment PMID:30872814|PMID:31397523 12397953 PLS1 plastin 1 gene DOID:0112167 autosomal dominant nonsyndromic deafness 76 ISO RGD:1316159 D RGD:7240710 20200318 OMIM 12397953 PLS1 plastin 1 gene DOID:0112167 autosomal dominant nonsyndromic deafness 76 ISO RGD:1316159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 76 PMID:25741868|PMID:30872814|PMID:31397523|PMID:31432506 12397953 PLS1 plastin 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1316159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:31397523 12397953 PLS1 plastin 1 gene DOID:630 genetic disease ISO RGD:1316159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12397953 PLS1 plastin 1 gene DOID:9004538 Hearing Loss ISO RGD:1316159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hereditary hearing loss and deafness PMID:25741868|PMID:30872814|PMID:31397523|PMID:31432506 12397953 PLS1 plastin 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1316159 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17114358 12397982 GGT7 gamma-glutamyltransferase 7 gene DOID:2843 long QT syndrome ISO RGD:731694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12397982 GGT7 gamma-glutamyltransferase 7 gene DOID:630 genetic disease ISO RGD:731694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398007 GALNT9 polypeptide N-acetylgalactosaminyltransferase 9 gene DOID:630 genetic disease ISO RGD:69656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398023 MSC musculin gene DOID:0080600 COVID-19 ISO RGD:1313556 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12398023 MSC musculin gene DOID:630 genetic disease ISO RGD:1313556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398029 NLRC5 NLR family CARD domain containing 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604572 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12398029 NLRC5 NLR family CARD domain containing 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604572 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12398029 NLRC5 NLR family CARD domain containing 5 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604572 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12398029 NLRC5 NLR family CARD domain containing 5 gene DOID:630 genetic disease ISO RGD:1604572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398029 NLRC5 NLR family CARD domain containing 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1604572 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:27338800|REF_RGD_ID:15003194 12398029 NLRC5 NLR family CARD domain containing 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604572 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26806094 12398087 CLDN11 claudin 11 gene DOID:1062 Fanconi syndrome ISO RGD:732844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 12398087 CLDN11 claudin 11 gene DOID:2377 multiple sclerosis ISO RGD:732844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25911099 12398087 CLDN11 claudin 11 gene DOID:630 genetic disease ISO RGD:732844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398087 CLDN11 claudin 11 gene DOID:9000735 Hypomyelinating Leukodystrophy 22 ISO RGD:732844 D RGD:7240710 20210526 OMIM 12398087 CLDN11 claudin 11 gene DOID:9000735 Hypomyelinating Leukodystrophy 22 ISO RGD:732844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 22 PMID:33313762 12398087 CLDN11 claudin 11 gene DOID:9006205 Animal Disease Models ISO RGD:732844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25911099 12398087 CLDN11 claudin 11 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:732844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12398094 ICA1L islet cell autoantigen 1 like gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1346474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12398094 ICA1L islet cell autoantigen 1 like gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1346474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12398094 ICA1L islet cell autoantigen 1 like gene DOID:14557 primary pulmonary hypertension ISO RGD:1346474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12398094 ICA1L islet cell autoantigen 1 like gene DOID:3393 coronary artery disease ISO RGD:1346474 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 12398094 ICA1L islet cell autoantigen 1 like gene DOID:630 genetic disease ISO RGD:1346474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398094 ICA1L islet cell autoantigen 1 like gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1346474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12398094 ICA1L islet cell autoantigen 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12398094 ICA1L islet cell autoantigen 1 like gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1346474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12398122 C7 complement C7 gene DOID:0060300 complement component 7 deficiency ISO RGD:1317399 D RGD:7240710 20180130 OMIM 12398122 C7 complement C7 gene DOID:0060300 complement component 7 deficiency ISO RGD:1317399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complement component 7 deficiency PMID:12869030|PMID:15554930|PMID:15831990|PMID:16199547|PMID:16771861|PMID:17407100|PMID:17576681|PMID:19931914|PMID:25741868|PMID:28492532|PMID:31440263|PMID:8871666|PMID:8892662|PMID:9218625|PMID:9536098|PMID:9856499 12398122 C7 complement C7 gene DOID:10976 membranous glomerulonephritis ISO RGD:620318 D RGD:9068941 20200609 RGD PMID:6241952|REF_RGD_ID:1599528 12398122 C7 complement C7 gene DOID:11832 visual epilepsy ISO RGD:620318 D RGD:9068941 20200609 RGD Protein:increased activity:brain PMID:12574424|REF_RGD_ID:1599523 12398122 C7 complement C7 gene DOID:5844 myocardial infarction ISO RGD:620318 D RGD:9068941 20200609 RGD Protein:increased activity:serum, myocardium PMID:15724448|REF_RGD_ID:1599522 12398122 C7 complement C7 gene DOID:630 genetic disease ISO RGD:1317399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12398122 C7 complement C7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12398122 C7 complement C7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12398144 MYO10 myosin X gene DOID:630 genetic disease ISO RGD:1316238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398144 MYO10 myosin X gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12398144 MYO10 myosin X gene DOID:9004657 Weight Gain ISO RGD:1316238 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12398193 GBP5 guanylate binding protein 5 gene DOID:10608 celiac disease ISO RGD:1322285 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 12398193 GBP5 guanylate binding protein 5 gene DOID:630 genetic disease ISO RGD:1322285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398193 GBP5 guanylate binding protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12398211 OTUD6A OTU deubiquitinase 6A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12398211 OTUD6A OTU deubiquitinase 6A gene DOID:12849 autistic disorder ISO RGD:1605871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12398211 OTUD6A OTU deubiquitinase 6A gene DOID:630 genetic disease ISO RGD:1605871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398216 PSMB6 proteasome 20S subunit beta 6 gene DOID:630 genetic disease ISO RGD:1349289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398226 SLC22A17 solute carrier family 22 member 17 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1348088 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12398226 SLC22A17 solute carrier family 22 member 17 gene DOID:630 genetic disease ISO RGD:1348088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398226 SLC22A17 solute carrier family 22 member 17 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1348088 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 12398226 SLC22A17 solute carrier family 22 member 17 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1348088 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12398239 CLDN12 claudin 12 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12398239 CLDN12 claudin 12 gene DOID:630 genetic disease ISO RGD:1314174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398246 EPM2AIP1 EPM2A interacting protein 1 gene DOID:3883 Lynch syndrome ISO RGD:1322182 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:14635101|PMID:15713769|PMID:15942939|PMID:15949572|PMID:16143124|PMID:16736289|PMID:16807412|PMID:16941473|PMID:19173287|PMID:19324997|PMID:19459153|PMID:21712435|PMID:23733757|PMID:24362816|PMID:28492532|PMID:29472279|PMID:31491536|PMID:33309985 12398246 EPM2AIP1 EPM2A interacting protein 1 gene DOID:630 genetic disease ISO RGD:1322182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398246 EPM2AIP1 EPM2A interacting protein 1 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1322182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 12398252 FOXE3 forkhead box E3 gene DOID:0060648 anterior segment dysgenesis ISO RGD:1316815 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: Ocular anterior segment dysgenesis PMID:11159941|PMID:16826526|PMID:20140963|PMID:20361012|PMID:24689660|PMID:25741868|PMID:26854927|PMID:28492532|PMID:29314435|PMID:32499604|PMID:34046667 12398252 FOXE3 forkhead box E3 gene DOID:0080606 anterior segment dysgenesis 1 ISO RGD:1316815 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 1 PMID:28492532 12398252 FOXE3 forkhead box E3 gene DOID:0080607 anterior segment dysgenesis 2 ISO RGD:1316815 D RGD:7240710 20230517 OMIM 12398252 FOXE3 forkhead box E3 gene DOID:0080607 anterior segment dysgenesis 2 ISO RGD:1316815 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 2 PMID:11159941|PMID:20140963|PMID:24689660|PMID:25741868|PMID:26854927|PMID:28492532|PMID:29314435|PMID:34046667 12398252 FOXE3 forkhead box E3 gene DOID:0080685 aortic dissection ISO RGD:1316815 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acute aortic dissection PMID:26854927|PMID:28492532|PMID:29314435 12398252 FOXE3 forkhead box E3 gene DOID:0110230 cataract 34 multiple types ISO RGD:1316815 D RGD:7240710 20230517 OMIM 12398252 FOXE3 forkhead box E3 gene DOID:0110230 cataract 34 multiple types ISO RGD:1316815 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CATARACT 34, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 34 multiple types PMID:17893665|PMID:25741868|PMID:27218149|PMID:28492532|PMID:34046667 12398252 FOXE3 forkhead box E3 gene DOID:11367 congenital aphakia ISO RGD:1316815 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital primary aphakia PMID:11159941|PMID:11980846|PMID:16826526|PMID:17893665|PMID:19708017|PMID:20140963|PMID:20361012|PMID:20806047|PMID:21150893|PMID:24033266|PMID:24033328|PMID:24689660|PMID:25148791|PMID:25504734|PMID:25741868|PMID:26854927|PMID:26995144|PMID:27218149|PMID:28492532|PMID:29136273|PMID:29314435|PMID:29878917|PMID:32499604|PMID:32976546|PMID:34046667|PMID:3550563 12398252 FOXE3 forkhead box E3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1316815 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:26854927|PMID:28492532|PMID:29314435 12398252 FOXE3 forkhead box E3 gene DOID:630 genetic disease ISO RGD:1316815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29136273|PMID:34046667 12398252 FOXE3 forkhead box E3 gene DOID:9005838 Familial Thoracic Aortic Aneurysm 11 ISO RGD:1316815 D RGD:7240710 20230517 OMIM 12398252 FOXE3 forkhead box E3 gene DOID:9005838 Familial Thoracic Aortic Aneurysm 11 ISO RGD:1316815 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 11, susceptibility to PMID:25741868|PMID:26854927|PMID:28492532 12398252 FOXE3 forkhead box E3 gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:1316815 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:26854927|PMID:28492532|PMID:29314435 12398252 FOXE3 forkhead box E3 gene DOID:9008804 Aphakia ISO RGD:1316815 D RGD:9068941 20200609 RGD DNA:nonsense mutation:cds:p.C240X (human) PMID:16826526|REF_RGD_ID:1598956 12398259 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1314115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12398259 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1314115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12398259 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1314115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:22742743|PMID:28492532 12398259 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:0080690 RASopathy ISO RGD:1314115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 12398259 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:0110651 long QT syndrome 10 ISO RGD:1314115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12398259 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1314115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:22742743|PMID:28492532 12398259 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1314115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12398259 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:1314115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12398259 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:1314115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12398259 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:1314115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12398259 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:10283 prostate cancer ISO RGD:1314115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12398259 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:5419 schizophrenia ISO RGD:1314115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12398259 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:630 genetic disease ISO RGD:1314115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398259 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1314115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12398259 ABCG4 ATP binding cassette subfamily G member 4 gene DOID:9007661 Dwarfism ISO RGD:1314115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12398277 ANOS1 anosmin 1 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1350490 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 12398277 ANOS1 anosmin 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1350490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:11297579|PMID:23643382|PMID:25636053|PMID:28492532|PMID:8504298 12398277 ANOS1 anosmin 1 gene DOID:0090094 hypogonadotropic hypogonadism 1 with or without anosmia ISO RGD:1350490 D RGD:7240710 20180822 OMIM 12398277 ANOS1 anosmin 1 gene DOID:0090094 hypogonadotropic hypogonadism 1 with or without anosmia ISO RGD:1350490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 1 with or without anosmia PMID:11044805|PMID:11297579|PMID:12050219|PMID:12727945|PMID:15001591|PMID:1518845|PMID:15605412|PMID:1594017|PMID:16199547|PMID:1639422|PMID:16882753|PMID:17054399|PMID:17576681|PMID:18259106|PMID:1904396|PMID:21681106|PMID:22035731|PMID:23100014|PMID:23410897|PMID:23533228|PMID:23643382|PMID:23721716|PMID:23849776|PMID:24031091|PMID:25064402|PMID:25077900|PMID:25339597|PMID:25636053|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26708526|PMID:26862482|PMID:27657687|PMID:28122887|PMID:28295047|PMID:28492532|PMID:28566479|PMID:28708303|PMID:28915117|PMID:30098700|PMID:31200363|PMID:31602316|PMID:32870266|PMID:8504298|PMID:9536098|PMID:9589672|PMID:9713559 12398277 ANOS1 anosmin 1 gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1350490 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:11044805|PMID:15001591|PMID:25077900|PMID:25741868 12398277 ANOS1 anosmin 1 gene DOID:12849 autistic disorder ISO RGD:1350490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12398277 ANOS1 anosmin 1 gene DOID:13938 amenorrhea ISO RGD:1350490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:27657687|PMID:28492532|PMID:32870266 12398277 ANOS1 anosmin 1 gene DOID:1921 Klinefelter syndrome ISO RGD:1350490 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 12398277 ANOS1 anosmin 1 gene DOID:3614 Kallmann syndrome ISO RGD:1350490 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12398277 ANOS1 anosmin 1 gene DOID:630 genetic disease ISO RGD:1350490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12398277 ANOS1 anosmin 1 gene DOID:9001239 Delayed Puberty ISO RGD:1350490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:11297579|PMID:23643382|PMID:25636053|PMID:28492532|PMID:8504298 12398277 ANOS1 anosmin 1 gene DOID:9003503 Penis Agenesis ISO RGD:1350490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Micropenis PMID:11297579|PMID:25741868 12398277 ANOS1 anosmin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12398301 ARL2BP ADP ribosylation factor like GTPase 2 binding protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344137 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12398301 ARL2BP ADP ribosylation factor like GTPase 2 binding protein gene DOID:0110419 retinitis pigmentosa with or without situs inversus ISO RGD:1344137 D RGD:7240710 20180130 OMIM 12398301 ARL2BP ADP ribosylation factor like GTPase 2 binding protein gene DOID:0110419 retinitis pigmentosa with or without situs inversus ISO RGD:1344137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa with or without situs inversus PMID:17576681|PMID:23849777|PMID:27790702|PMID:28492532|PMID:34906502|PMID:9536098 12398301 ARL2BP ADP ribosylation factor like GTPase 2 binding protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344137 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12398301 ARL2BP ADP ribosylation factor like GTPase 2 binding protein gene DOID:10584 retinitis pigmentosa ISO RGD:1344137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:23849777|PMID:27790702 12398301 ARL2BP ADP ribosylation factor like GTPase 2 binding protein gene DOID:12336 male infertility ISO RGD:1616652 D RGD:9068941 20220825 MouseDO 12398301 ARL2BP ADP ribosylation factor like GTPase 2 binding protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1344137 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12398301 ARL2BP ADP ribosylation factor like GTPase 2 binding protein gene DOID:630 genetic disease ISO RGD:1344137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12398301 ARL2BP ADP ribosylation factor like GTPase 2 binding protein gene DOID:8501 fundus dystrophy ISO RGD:1344137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:27790702|PMID:28041643|PMID:28492532|PMID:30210231|PMID:32581362 12398320 GRM3 glutamate metabotropic receptor 3 gene DOID:1826 epilepsy ISO RGD:732815 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 12398320 GRM3 glutamate metabotropic receptor 3 gene DOID:1909 melanoma ISO RGD:732815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21946352|PMID:22842228 12398320 GRM3 glutamate metabotropic receptor 3 gene DOID:3328 temporal lobe epilepsy ISO RGD:732815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18804094 12398320 GRM3 glutamate metabotropic receptor 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12398320 GRM3 glutamate metabotropic receptor 3 gene DOID:5419 schizophrenia ISO RGD:732815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18256595 12398320 GRM3 glutamate metabotropic receptor 3 gene DOID:630 genetic disease ISO RGD:732815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398332 C1H18orf63 chromosome 1 C18orf63 homolog gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:5132403 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12398332 C1H18orf63 chromosome 1 C18orf63 homolog gene DOID:630 genetic disease ISO RGD:5132403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398332 C1H18orf63 chromosome 1 C18orf63 homolog gene DOID:6420 pulmonary valve stenosis ISO RGD:5132403 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12398332 C1H18orf63 chromosome 1 C18orf63 homolog gene DOID:8445 intestinal volvulus ISO RGD:5132403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12398332 C1H18orf63 chromosome 1 C18orf63 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:5132403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12398332 C1H18orf63 chromosome 1 C18orf63 homolog gene DOID:9008419 Volvulus Of Midgut ISO RGD:5132403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12398361 SEPTIN12 septin 12 gene DOID:0070178 spermatogenic failure 10 ISO RGD:1604543 D RGD:7240710 20180130 OMIM 12398361 SEPTIN12 septin 12 gene DOID:0070178 spermatogenic failure 10 ISO RGD:1604543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 10 PMID:22275165|PMID:22479503 12398361 SEPTIN12 septin 12 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12398361 SEPTIN12 septin 12 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1604543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 12398361 SEPTIN12 septin 12 gene DOID:1826 epilepsy ISO RGD:1604543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12398361 SEPTIN12 septin 12 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604543 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12398361 SEPTIN12 septin 12 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1604543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12398361 SEPTIN12 septin 12 gene DOID:630 genetic disease ISO RGD:1604543 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398376 PAQR8 progestin and adipoQ receptor family member 8 gene DOID:630 genetic disease ISO RGD:1323309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398485 AVPR2 arginine vasopressin receptor 2 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:730975 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12398485 AVPR2 arginine vasopressin receptor 2 gene DOID:0050476 Barth syndrome ISO RGD:730975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12398485 AVPR2 arginine vasopressin receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:730975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12145768 12398485 AVPR2 arginine vasopressin receptor 2 gene DOID:0050735 X-linked monogenic disease ISO RGD:730975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19703807 12398485 AVPR2 arginine vasopressin receptor 2 gene DOID:0050800 creatine transporter deficiency ISO RGD:730975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 12398485 AVPR2 arginine vasopressin receptor 2 gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:730975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17218722 12398485 AVPR2 arginine vasopressin receptor 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:730975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 12398485 AVPR2 arginine vasopressin receptor 2 gene DOID:0081060 X-linked nephrogenic diabetes insipidus ISO RGD:730975 D RGD:7240710 20210630 OMIM 12398485 AVPR2 arginine vasopressin receptor 2 gene DOID:0081060 X-linked nephrogenic diabetes insipidus ISO RGD:730975 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic, X-linked PMID:10026829|PMID:10526945|PMID:10770218|PMID:10820167|PMID:10820168|PMID:11095010|PMID:11128419|PMID:11134505|PMID:11232028|PMID:11754100|PMID:11916004|PMID:11920339|PMID:12955588|PMID:1303257|PMID:1303271|PMID:1356229|PMID:15166253|PMID:15522100|PMID:15841479|PMID:15872203|PMID:16319185|PMID:16580609|PMID:16825342|PMID:16843086|PMID:16845277|PMID:17216256|PMID:17491025|PMID:18726898|PMID:19179480|PMID:19587238|PMID:20403097|PMID:22144672|PMID:22644838|PMID:23762448|PMID:24033266|PMID:25324589|PMID:25741868|PMID:26467025|PMID:27355191|PMID:27884173|PMID:28492532|PMID:29398133|PMID:29546600|PMID:29594432|PMID:30976394|PMID:32073219|PMID:32903920|PMID:32939031|PMID:33532864|PMID:33996673|PMID:34101133|PMID:4886456|PMID:5309332|PMID:7714087|PMID:7833930|PMID:7913579|PMID:7920187|PMID:7984150|PMID:7987330|PMID:7989330|PMID:8037205|PMID:8078903|PMID:8104196|PMID:8267567|PMID:8401502|PMID:8479490|PMID:8479491|PMID:8704106|PMID:8766931|PMID:8999963|PMID:9027323|PMID:9171234|PMID:9329382|PMID:9369448|PMID:9402087|PMID:9452109|PMID:9587067|PMID:9711877|PMID:9853256 12398485 AVPR2 arginine vasopressin receptor 2 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:730975 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 12398485 AVPR2 arginine vasopressin receptor 2 gene DOID:0112003 immunodeficiency 33 ISO RGD:730975 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12398485 AVPR2 arginine vasopressin receptor 2 gene DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis ISO RGD:730975 D RGD:7240710 20180130 OMIM 12398485 AVPR2 arginine vasopressin receptor 2 gene DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis ISO RGD:730975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrogenic syndrome of inappropriate antidiuresis PMID:10820168|PMID:11095010|PMID:11134505|PMID:11232028|PMID:11754100|PMID:11916004|PMID:11920339|PMID:1303257|PMID:15166253|PMID:15872203|PMID:16319185|PMID:16580609|PMID:16825342|PMID:16843086|PMID:16845277|PMID:17229917|PMID:19179480|PMID:20159941|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27117808|PMID:27355191|PMID:28492532|PMID:29398133|PMID:29546600|PMID:33996673|PMID:7920187|PMID:7984150|PMID:8037205|PMID:8104196|PMID:8999963|PMID:9452109|PMID:9711877 12398485 AVPR2 arginine vasopressin receptor 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:730975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12398485 AVPR2 arginine vasopressin receptor 2 gene DOID:10763 hypertension severity ISO RGD:2186 D RGD:9068941 20200609 RGD PMID:12072411|REF_RGD_ID:1298694 12398485 AVPR2 arginine vasopressin receptor 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:730975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12398485 AVPR2 arginine vasopressin receptor 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:730975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrogenic diabetes insipidus PMID:10026829|PMID:10714359|PMID:10749568|PMID:10770218|PMID:10820168|PMID:10918636|PMID:11095010|PMID:11128419|PMID:11134505|PMID:11232028|PMID:11754100|PMID:11916004|PMID:11920339|PMID:1303257|PMID:1303271|PMID:15166253|PMID:15522100|PMID:15841479|PMID:15872203|PMID:16319185|PMID:16502494|PMID:16580609|PMID:16689923|PMID:16825342|PMID:16843086|PMID:16845277|PMID:17216256|PMID:17491025|PMID:18407239|PMID:18726898|PMID:19179480|PMID:19729439|PMID:19812297|PMID:25741868|PMID:26467025|PMID:29398133|PMID:29546600|PMID:33996673|PMID:7541187|PMID:7833930|PMID:7913579|PMID:7920187|PMID:7933835|PMID:7984150|PMID:8037205|PMID:8104196|PMID:8401502|PMID:8704106|PMID:8766931|PMID:8815789|PMID:8999963|PMID:9402087|PMID:9452109|PMID:9711877|PMID:9773787 12398485 AVPR2 arginine vasopressin receptor 2 gene DOID:12849 autistic disorder ISO RGD:730975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12398485 AVPR2 arginine vasopressin receptor 2 gene DOID:13628 favism ISO RGD:730975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12398485 AVPR2 arginine vasopressin receptor 2 gene DOID:2729 dyskeratosis congenita ISO RGD:730975 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12398485 AVPR2 arginine vasopressin receptor 2 gene DOID:5199 ureteral obstruction ISO RGD:2186 D RGD:9068941 20200609 RGD PMID:18971210|REF_RGD_ID:2312654 12398485 AVPR2 arginine vasopressin receptor 2 gene DOID:6000 congestive heart failure ISO RGD:730975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12145768 12398485 AVPR2 arginine vasopressin receptor 2 gene DOID:607 paraplegia ISO RGD:730975 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12398485 AVPR2 arginine vasopressin receptor 2 gene DOID:630 genetic disease ISO RGD:730975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10820167|PMID:10820168|PMID:1303257|PMID:18726898|PMID:25741868|PMID:25937802|PMID:26077742|PMID:28492532 12398485 AVPR2 arginine vasopressin receptor 2 gene DOID:9002720 Splenomegaly ISO RGD:730975 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12398485 AVPR2 arginine vasopressin receptor 2 gene DOID:9006257 Growth Disorders ISO RGD:730975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19703807 12398485 AVPR2 arginine vasopressin receptor 2 gene DOID:9008760 Oliguria ISO RGD:730975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7977526 12398498 SRP54 signal recognition particle 54 gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:1350478 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 PMID:25741868|PMID:28492532|PMID:28972538|PMID:29914977 12398498 SRP54 signal recognition particle 54 gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:1350478 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:28492532 12398498 SRP54 signal recognition particle 54 gene DOID:0112135 severe congenital neutropenia 8 ISO RGD:1350478 D RGD:7240710 20200226 OMIM 12398498 SRP54 signal recognition particle 54 gene DOID:0112135 severe congenital neutropenia 8 ISO RGD:1350478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 8, autosomal dominant PMID:28492532|PMID:28972538|PMID:29914977 12398498 SRP54 signal recognition particle 54 gene DOID:630 genetic disease ISO RGD:1350478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28972538|PMID:29914977|PMID:34549814 12398498 SRP54 signal recognition particle 54 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350478 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12398527 AP2S1 adaptor related protein complex 2 subunit sigma 1 gene DOID:0060702 familial hypocalciuric hypercalcemia 3 ISO RGD:732482 D RGD:7240710 20180130 OMIM 12398527 AP2S1 adaptor related protein complex 2 subunit sigma 1 gene DOID:0060702 familial hypocalciuric hypercalcemia 3 ISO RGD:732482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 3 PMID:1524075|PMID:17576681|PMID:20133464|PMID:23222959|PMID:24081735|PMID:24731014|PMID:25741868|PMID:26082470|PMID:27050234|PMID:27761240|PMID:27913609|PMID:28492532|PMID:29325022|PMID:29420171|PMID:9536098 12398527 AP2S1 adaptor related protein complex 2 subunit sigma 1 gene DOID:0080600 COVID-19 ISO RGD:732482 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12398527 AP2S1 adaptor related protein complex 2 subunit sigma 1 gene DOID:630 genetic disease ISO RGD:732482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398527 AP2S1 adaptor related protein complex 2 subunit sigma 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12398536 SUPT20H SPT20 homolog, SAGA complex component gene DOID:630 genetic disease ISO RGD:1343879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398536 SUPT20H SPT20 homolog, SAGA complex component gene DOID:7148 rheumatoid arthritis ISO RGD:1343879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis 12398591 PRR14L proline rich 14 like gene DOID:630 genetic disease ISO RGD:1604500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398612 FHAD1 forkhead associated phosphopeptide binding domain 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1605889 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12398612 FHAD1 forkhead associated phosphopeptide binding domain 1 gene DOID:630 genetic disease ISO RGD:1605889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398653 HS2ST1 heparan sulfate 2-O-sulfotransferase 1 gene DOID:630 genetic disease ISO RGD:1313348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398653 HS2ST1 heparan sulfate 2-O-sulfotransferase 1 gene DOID:9003425 NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS ISO RGD:1313348 D RGD:7240710 20210317 OMIM 12398653 HS2ST1 heparan sulfate 2-O-sulfotransferase 1 gene DOID:9003425 NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS ISO RGD:1313348 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurofacioskeletal syndrome with or without renal agenesis PMID:25741868|PMID:28492532|PMID:33159882 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:0060180 colitis ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24548422 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:735741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:0090114 Sorsby's fundus dystrophy ISO RGD:735741 D RGD:7240710 20180130 OMIM 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:0090114 Sorsby's fundus dystrophy ISO RGD:735741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sorsby fundus dystrophy PMID:10854443|PMID:25741868|PMID:27601084|PMID:28492532|PMID:31415707|PMID:7148944|PMID:7894485|PMID:8634721|PMID:8639088|PMID:8919688|PMID:8981947 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:735741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:735741 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:15928670|REF_RGD_ID:2290417 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:11054 urinary bladder cancer ISO RGD:735741 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:18082200|REF_RGD_ID:2290411 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:11446 sciatic neuropathy ISO RGD:3865 D RGD:9068941 20220421 RGD RNA:decreased expression:dorsal root ganglion neuron PMID:25484256|REF_RGD_ID:151893491 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:11419 D RGD:9068941 20220825 MouseDO 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:1395 schistosomiasis ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23527093 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:735741 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:1612 breast cancer disease_progression ISO RGD:735741 D RGD:9068941 20200609 RGD PMID:16256342|REF_RGD_ID:2290416 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:2006 preretinal fibrosis ISO RGD:735741 D RGD:9068941 20200609 RGD PMID:11004090|REF_RGD_ID:2312481 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:2841 asthma ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16926187 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:3459 breast carcinoma ISO RGD:735741 D RGD:9068941 20200609 RGD associated with Tumor Virus Infections;DNA:hypermethylation:promoter PMID:18205041|REF_RGD_ID:2290409 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:3459 breast carcinoma disease_progression ISO RGD:735741 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:17032447|REF_RGD_ID:2290413 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:3594 choriocarcinoma ISO RGD:735741 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, placenta PMID:15507671|REF_RGD_ID:2290418 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:3602 toxic encephalopathy ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:365 bladder disease ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23527093 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735741 D RGD:9068941 20220421 RGD PMID:30233216|REF_RGD_ID:151708743 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:3910 lung adenocarcinoma ISO RGD:735741 D RGD:9068941 20220812 RGD mRNA:decreased expression:lung (human) PMID:23374247|REF_RGD_ID:151708716 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:409 liver disease ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:4448 macular degeneration ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26691988 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:4450 renal cell carcinoma ISO RGD:735741 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:11576837|REF_RGD_ID:2290421 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:630 genetic disease ISO RGD:735741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:8501 fundus dystrophy ISO RGD:735741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:23023527|PMID:26493035|PMID:27601084|PMID:28492532|PMID:28559085 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:735741 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;mRNA:increased expression:breast PMID:12828172|REF_RGD_ID:2290437 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9002265 Kidney Neoplasms ISO RGD:735741 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:15217927|REF_RGD_ID:2290419 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9002498 Wallerian Degeneration ISO RGD:3865 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:dorsal root ganglion PMID:16683235|REF_RGD_ID:1600154 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9002525 Hereditary Eye Diseases susceptibility ISO RGD:735741 D RGD:9068941 20200609 RGD protein:mutation: ; Y172C; Sorsby fundus dystrophy, OMIM:136900 PMID:9400791|REF_RGD_ID:1600153 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:735741 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17009974|REF_RGD_ID:2290414 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3865 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:15878627|REF_RGD_ID:1559178 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:735741 D RGD:9068941 20200609 RGD PMID:17976707|REF_RGD_ID:2290412 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:735741 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:16736496|REF_RGD_ID:2290415 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9003601 Pseudoinflammatory Fundus Dystrophy, Finnish Type ISO RGD:735741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fundus dystrophy, pseudoinflammatory, recessive form PMID:25741868|PMID:28492532 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9004009 Reperfusion Injury ISO RGD:3865 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:17551674|REF_RGD_ID:2290424 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23109338 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:11419 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:8840279|REF_RGD_ID:2312482 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9005930 Endotoxemia ISO RGD:3865 D RGD:9068941 20200609 RGD PMID:17083784|REF_RGD_ID:2290426 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:735741 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:12798711|REF_RGD_ID:2290420 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9008763 Femoral Fractures disease_progression ISO RGD:3865 D RGD:9068941 20220421 RGD PMID:31691506|REF_RGD_ID:151893486 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735741 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:19633828|REF_RGD_ID:2312470 12398666 TIMP3 TIMP metallopeptidase inhibitor 3 gene DOID:9352 type 2 diabetes mellitus disease_progression ISO RGD:3865 D RGD:9068941 20220421 RGD associated with Femoral Fractures; PMID:31691506|REF_RGD_ID:151893486 12398679 TCAF2 TRPM8 channel associated factor 2 gene DOID:630 genetic disease ISO RGD:1603511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398690 ATP6V0E2 ATPase H+ transporting V0 subunit e2 gene DOID:630 genetic disease ISO RGD:1606137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398698 CYB5R2 cytochrome b5 reductase 2 gene DOID:630 genetic disease ISO RGD:1602002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398711 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1332253 D RGD:9068941 20200609 RGD PMID:26060116|REF_RGD_ID:11532770 12398711 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1606199 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12398711 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1606199 D RGD:7240710 20180130 OMIM 12398711 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1606199 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:22958903|PMID:25558065|PMID:25741868|PMID:26436962|PMID:26467025|PMID:27066570|PMID:28492532|PMID:31130284|PMID:32570172 12398711 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 ISO RGD:1606199 D RGD:7240710 20190315 OMIM 12398711 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 ISO RGD:1606199 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 PMID:25741868|PMID:27066570|PMID:28492532|PMID:32570172 12398711 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:630 genetic disease ISO RGD:1606199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12398711 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:9008539 Perinatal Death ISO RGD:1606199 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal death PMID:22958903|PMID:25558065|PMID:25741868|PMID:28492532|PMID:31130284 12398741 TSSK1B testis specific serine kinase 1B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605025 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12398741 TSSK1B testis specific serine kinase 1B gene DOID:417 autoimmune disease ISO RGD:1552675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15140057 12398741 TSSK1B testis specific serine kinase 1B gene DOID:630 genetic disease ISO RGD:1605025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398741 TSSK1B testis specific serine kinase 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12398741 TSSK1B testis specific serine kinase 1B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12398741 TSSK1B testis specific serine kinase 1B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605025 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12398742 PHOSPHO1 phosphoethanolamine/phosphocholine phosphatase 1 gene DOID:630 genetic disease ISO RGD:1314655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398742 PHOSPHO1 phosphoethanolamine/phosphocholine phosphatase 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1314655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26773408 12398760 PDSS1 decaprenyl diphosphate synthase subunit 1 gene DOID:0050730 coenzyme Q10 deficiency disease ISO RGD:1354063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary PMID:25741868|PMID:28492532 12398760 PDSS1 decaprenyl diphosphate synthase subunit 1 gene DOID:0070239 primary coenzyme Q10 deficiency 2 ISO RGD:1354063 D RGD:7240710 20180130 OMIM 12398760 PDSS1 decaprenyl diphosphate synthase subunit 1 gene DOID:0070239 primary coenzyme Q10 deficiency 2 ISO RGD:1354063 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome PMID:17332895|PMID:22494076|PMID:25264263|PMID:25326637|PMID:25741868|PMID:28492532|PMID:31683770|PMID:33285023|PMID:34765390 12398760 PDSS1 decaprenyl diphosphate synthase subunit 1 gene DOID:0080600 COVID-19 ISO RGD:1354063 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12398760 PDSS1 decaprenyl diphosphate synthase subunit 1 gene DOID:5419 schizophrenia ISO RGD:1354063 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12398760 PDSS1 decaprenyl diphosphate synthase subunit 1 gene DOID:630 genetic disease ISO RGD:1354063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12398801 C2H10orf67 chromosome 2 C10orf67 homolog gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1350054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 12398801 C2H10orf67 chromosome 2 C10orf67 homolog gene DOID:630 genetic disease ISO RGD:1350054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398801 C2H10orf67 chromosome 2 C10orf67 homolog gene DOID:9007770 Pancreatic Agenesis 2 ISO RGD:1350054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pancreatic agenesis 2 PMID:25741868 12398801 C2H10orf67 chromosome 2 C10orf67 homolog gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 12398823 FUT4 fucosyltransferase 4 gene DOID:0060903 thrombosis ISO RGD:1342617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16932337 12398823 FUT4 fucosyltransferase 4 gene DOID:1059 intellectual disability ISO RGD:1342617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12398823 FUT4 fucosyltransferase 4 gene DOID:12704 ataxia telangiectasia ISO RGD:1342617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12398823 FUT4 fucosyltransferase 4 gene DOID:630 genetic disease ISO RGD:1342617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398827 GLI2 GLI family zinc finger 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1606840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23867347 12398827 GLI2 GLI family zinc finger 2 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arteriovenous malformations of the brain PMID:25741868 12398827 GLI2 GLI family zinc finger 2 gene DOID:0070067 White-Sutton syndrome ISO RGD:1606840 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome PMID:25741868 12398827 GLI2 GLI family zinc finger 2 gene DOID:0080016 spina bifida ISO RGD:1606840 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, brain PMID:26446020|REF_RGD_ID:12801432 12398827 GLI2 GLI family zinc finger 2 gene DOID:0080171 esophageal atresia/tracheoesophageal fistula ISO RGD:1309270 D RGD:9068941 20200609 RGD PMID:12947339|REF_RGD_ID:12801415 12398827 GLI2 GLI family zinc finger 2 gene DOID:0080328 Culler-Jones syndrome ISO RGD:1606840 D RGD:7240710 20180130 OMIM 12398827 GLI2 GLI family zinc finger 2 gene DOID:0080328 Culler-Jones syndrome ISO RGD:1606840 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Culler-Jones syndrome PMID:15994174|PMID:20685856|PMID:22967285|PMID:23408573|PMID:25741868|PMID:28492532|PMID:31292255|PMID:6726521 12398827 GLI2 GLI family zinc finger 2 gene DOID:0110873 holoprosencephaly 9 ISO RGD:1606840 D RGD:7240710 20180130 OMIM 12398827 GLI2 GLI family zinc finger 2 gene DOID:0110873 holoprosencephaly 9 ISO RGD:1606840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar cyst | ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES | ClinVar Annotator: match by term: Holoprosencephaly 9 PMID:10725236|PMID:14581620|PMID:15994174|PMID:16327884|PMID:17096318|PMID:1756909|PMID:17569090|PMID:17576681|PMID:19223936|PMID:20685056|PMID:20685856|PMID:21204792|PMID:21416594|PMID:22967285|PMID:22978696|PMID:23408573|PMID:24744436|PMID:25741868|PMID:26893459|PMID:28166811|PMID:28191889|PMID:28492532|PMID:29165578|PMID:29876959|PMID:30548673|PMID:34198905|PMID:9536098 12398827 GLI2 GLI family zinc finger 2 gene DOID:0110881 holoprosencephaly 1 ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 1 PMID:25741868|PMID:28492532 12398827 GLI2 GLI family zinc finger 2 gene DOID:0111428 essential tremor 1 ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hand tremor PMID:25741868 12398827 GLI2 GLI family zinc finger 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1606840 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:25741868|PMID:26893459|PMID:28492532 12398827 GLI2 GLI family zinc finger 2 gene DOID:1059 intellectual disability ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 12398827 GLI2 GLI family zinc finger 2 gene DOID:10907 microcephaly ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12398827 GLI2 GLI family zinc finger 2 gene DOID:11175 enophthalmos ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Enophthalmos PMID:25741868 12398827 GLI2 GLI family zinc finger 2 gene DOID:13608 biliary atresia disease_progression ISO RGD:1606840 D RGD:9068941 20200609 RGD PMID:25746691|REF_RGD_ID:12802349 12398827 GLI2 GLI family zinc finger 2 gene DOID:14679 VACTERL association ISO RGD:1319523 D RGD:9068941 20230105 RGD PMID:11172440|REF_RGD_ID:155791680 12398827 GLI2 GLI family zinc finger 2 gene DOID:1826 epilepsy ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12398827 GLI2 GLI family zinc finger 2 gene DOID:1923 disorder of sexual development ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 12398827 GLI2 GLI family zinc finger 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606840 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:26893459|PMID:28492532 12398827 GLI2 GLI family zinc finger 2 gene DOID:203 exostosis ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exostosis PMID:25741868 12398827 GLI2 GLI family zinc finger 2 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1606840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16936257 12398827 GLI2 GLI family zinc finger 2 gene DOID:2513 basal cell carcinoma ISO RGD:1606840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10700170 12398827 GLI2 GLI family zinc finger 2 gene DOID:4621 holoprosencephaly ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Microform holoprosencephaly 12398827 GLI2 GLI family zinc finger 2 gene DOID:630 genetic disease ISO RGD:1606840 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14581620|PMID:15994174|PMID:20685856|PMID:22967285|PMID:24744436|PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532|PMID:29165578 12398827 GLI2 GLI family zinc finger 2 gene DOID:9000495 Tremor ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:25741868 12398827 GLI2 GLI family zinc finger 2 gene DOID:9001471 Anorectal Malformations ISO RGD:1309270 D RGD:9068941 20230107 RGD mRNA:decreased expression:terminal rectum PMID:25213187|REF_RGD_ID:155791683 12398827 GLI2 GLI family zinc finger 2 gene DOID:9001471 Anorectal Malformations ISO RGD:1319523 D RGD:9068941 20200609 RGD PMID:11485934|REF_RGD_ID:12802352 12398827 GLI2 GLI family zinc finger 2 gene DOID:9001471 Anorectal Malformations ISO RGD:1606840 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:rectum PMID:20146882|REF_RGD_ID:12798571 12398827 GLI2 GLI family zinc finger 2 gene DOID:9002811 Facial Dysmorphism with Multiple Malformations ISO RGD:1606840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27585885 12398827 GLI2 GLI family zinc finger 2 gene DOID:9003133 Hypertelorism ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 12398827 GLI2 GLI family zinc finger 2 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 12398827 GLI2 GLI family zinc finger 2 gene DOID:9004464 Skin Neoplasms ISO RGD:1606840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10700170 12398827 GLI2 GLI family zinc finger 2 gene DOID:9006205 Animal Disease Models ISO RGD:1606840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27585885 12398827 GLI2 GLI family zinc finger 2 gene DOID:9006257 Growth Disorders ISO RGD:1606840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation 12398827 GLI2 GLI family zinc finger 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:31292255 12398827 GLI2 GLI family zinc finger 2 gene DOID:9008280 Holoprosencephaly 10 ISO RGD:1606840 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES PMID:25741868|PMID:28492532 12398827 GLI2 GLI family zinc finger 2 gene DOID:9008582 Developmental Disease ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12398827 GLI2 GLI family zinc finger 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12398845 RMI1 RecQ mediated genome instability 1 gene DOID:0080600 COVID-19 ISO RGD:1321710 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12398845 RMI1 RecQ mediated genome instability 1 gene DOID:630 genetic disease ISO RGD:1321710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398845 RMI1 RecQ mediated genome instability 1 gene DOID:9256 colorectal cancer ISO RGD:1321710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 12398893 LOC102153191 membrane-spanning 4-domains subfamily A member 4A-like gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1319151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12398893 LOC102153191 membrane-spanning 4-domains subfamily A member 4A-like gene DOID:1059 intellectual disability ISO RGD:1319151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12398893 LOC102153191 membrane-spanning 4-domains subfamily A member 4A-like gene DOID:630 genetic disease ISO RGD:1319151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398904 UTS2 urotensin 2 gene DOID:0050700 cardiomyopathy ISO RGD:3930 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:myocardium PMID:18280445|REF_RGD_ID:2306796 12398904 UTS2 urotensin 2 gene DOID:0050700 cardiomyopathy ISO RGD:737599 D RGD:9068941 20200609 RGD PMID:12791592|REF_RGD_ID:1580809 12398904 UTS2 urotensin 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:737599 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12398904 UTS2 urotensin 2 gene DOID:10591 pre-eclampsia ISO RGD:737599 D RGD:9068941 20200609 RGD PMID:15866083|REF_RGD_ID:1580806 12398904 UTS2 urotensin 2 gene DOID:10763 hypertension ISO RGD:3930 D RGD:9068941 20200609 RGD PMID:14621188|REF_RGD_ID:1580812 12398904 UTS2 urotensin 2 gene DOID:10763 hypertension ISO RGD:737599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16160878 12398904 UTS2 urotensin 2 gene DOID:10763 hypertension ISO RGD:737599 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15201550|REF_RGD_ID:1580808 12398904 UTS2 urotensin 2 gene DOID:114 heart disease susceptibility ISO RGD:737599 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:16508659|REF_RGD_ID:2306803 12398904 UTS2 urotensin 2 gene DOID:11714 gestational diabetes susceptibility ISO RGD:737599 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:17327028|REF_RGD_ID:2306802 12398904 UTS2 urotensin 2 gene DOID:12932 endomyocardial fibrosis ISO RGD:3930 D RGD:9068941 20200609 RGD PMID:17184580|REF_RGD_ID:2306814 12398904 UTS2 urotensin 2 gene DOID:2841 asthma ISO RGD:3930 D RGD:9068941 20200609 RGD PMID:17045018|REF_RGD_ID:2306832 12398904 UTS2 urotensin 2 gene DOID:2841 asthma ISO RGD:737599 D RGD:9068941 20200609 RGD PMID:17045018|REF_RGD_ID:2306832 12398904 UTS2 urotensin 2 gene DOID:3407 carotid artery disease ISO RGD:737599 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:18338983|REF_RGD_ID:2306795 12398904 UTS2 urotensin 2 gene DOID:480 movement disease ISO RGD:737599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16160878 12398904 UTS2 urotensin 2 gene DOID:5844 myocardial infarction ISO RGD:3930 D RGD:9068941 20200609 RGD associated with Heart Failure, Congestive;mRNA:increased expression:heart ventricle PMID:15549273|REF_RGD_ID:2306846 12398904 UTS2 urotensin 2 gene DOID:6000 congestive heart failure ISO RGD:737599 D RGD:9068941 20200609 RGD PMID:12791592|REF_RGD_ID:1580809 12398904 UTS2 urotensin 2 gene DOID:6000 congestive heart failure severity ISO RGD:737599 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16364499|REF_RGD_ID:2306804 12398904 UTS2 urotensin 2 gene DOID:630 genetic disease ISO RGD:737599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398904 UTS2 urotensin 2 gene DOID:6432 pulmonary hypertension ISO RGD:3930 D RGD:9068941 20200609 RGD PMID:15042392|REF_RGD_ID:2306848 12398904 UTS2 urotensin 2 gene DOID:8670 eating disorder ISO RGD:737599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16160878 12398904 UTS2 urotensin 2 gene DOID:8947 diabetic retinopathy ISO RGD:737599 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:18338983|REF_RGD_ID:2306795 12398904 UTS2 urotensin 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:3930 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney PMID:18796544|REF_RGD_ID:2306786 12398904 UTS2 urotensin 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737599 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:15492948|REF_RGD_ID:2306805 12398904 UTS2 urotensin 2 gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:737599 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:urine PMID:15476950|REF_RGD_ID:2306806 12398904 UTS2 urotensin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12398904 UTS2 urotensin 2 gene DOID:9005289 Water Intoxication ISO RGD:737599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16160878 12398904 UTS2 urotensin 2 gene DOID:9007001 Bradycardia ISO RGD:737599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16160878 12398904 UTS2 urotensin 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3930 D RGD:9068941 20200609 RGD PMID:17900760|REF_RGD_ID:2306836 12398904 UTS2 urotensin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737599 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:18067077|REF_RGD_ID:2306799 12398904 UTS2 urotensin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737599 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15476950|REF_RGD_ID:2306806 12398904 UTS2 urotensin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737600 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:19323985|REF_RGD_ID:2306785 12398904 UTS2 urotensin 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737599 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.S89N PMID:15476949|REF_RGD_ID:2306807 12398958 RIBC2 RIB43A domain with coiled-coils 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1351194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12398958 RIBC2 RIB43A domain with coiled-coils 2 gene DOID:1059 intellectual disability ISO RGD:1351194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12398958 RIBC2 RIB43A domain with coiled-coils 2 gene DOID:630 genetic disease ISO RGD:1351194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398958 RIBC2 RIB43A domain with coiled-coils 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1351194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12398969 OOEP oocyte expressed protein gene DOID:3659 sialuria ISO RGD:1351084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 12398969 OOEP oocyte expressed protein gene DOID:630 genetic disease ISO RGD:1351084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398976 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:0050771 pheochromocytoma ISO RGD:1606278 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:28492532 12398976 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:0050773 paraganglioma ISO RGD:1606278 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paragangliomata PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:21224366|PMID:21348866|PMID:22241717|PMID:22703879|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:28099933|PMID:28492532|PMID:31687641|PMID:6264239|PMID:6286462|PMID:9536098 12398976 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:0050773 paraganglioma ISO RGD:1606278 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:20301715|PMID:21224366|PMID:21348866|PMID:21752896|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25394176|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:28099933|PMID:28492532|PMID:30050099|PMID:30306255|PMID:31687641|PMID:32741965|PMID:32887801|PMID:33748650|PMID:36597280|PMID:6264239|PMID:6286462|PMID:9536098 12398976 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:0050777 Joubert syndrome ISO RGD:1606278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12398976 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12398976 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:1059 intellectual disability ISO RGD:1606278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12398976 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:2394 ovarian cancer ISO RGD:1606278 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:26016412|PMID:28492532|PMID:30050099 12398976 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:893 Wilson disease ISO RGD:1606278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 12398976 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:1606278 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:28492532 12398976 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:1606278 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:20301715|PMID:21224366|PMID:21348866|PMID:21752896|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25394176|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:28099933|PMID:28492532|PMID:30050099|PMID:30306255|PMID:31687641|PMID:32741965|PMID:32887801|PMID:33748650|PMID:36597280|PMID:6264239|PMID:6286462|PMID:9536098 12398976 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:9005655 Paragangliomas 2 ISO RGD:1606278 D RGD:7240710 20180130 OMIM 12398976 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:9005655 Paragangliomas 2 ISO RGD:1606278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paragangliomas 2 PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:20301715|PMID:21224366|PMID:21348866|PMID:22241717|PMID:24414418|PMID:25741868|PMID:26096992|PMID:26467025|PMID:28099933|PMID:28492532|PMID:6264239|PMID:6286462|PMID:9536098 12398976 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606278 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:19628817|PMID:20071235|PMID:21348866|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26467025|PMID:28099933|PMID:28492532|PMID:30050099|PMID:31687641|PMID:6286462|PMID:9536098 12398976 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606278 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17576681|PMID:19628817|PMID:20071235|PMID:20301715|PMID:21348866|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26467025|PMID:28099933|PMID:28492532|PMID:30050099|PMID:31687641|PMID:6286462|PMID:9536098 12398976 SDHAF2 succinate dehydrogenase complex assembly factor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606278 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:20301715|PMID:21224366|PMID:21348866|PMID:21752896|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25394176|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:28099933|PMID:28492532|PMID:29641532|PMID:30050099|PMID:30306255|PMID:31687641|PMID:32741965|PMID:32887801|PMID:33748650|PMID:36597280|PMID:6264239|PMID:6286462|PMID:9536098 12398987 SLC22A3 solute carrier family 22 member 3 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1351828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 12398987 SLC22A3 solute carrier family 22 member 3 gene DOID:303 substance-related disorder ISO RGD:1351828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17010131 12398987 SLC22A3 solute carrier family 22 member 3 gene DOID:630 genetic disease ISO RGD:1351828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12398987 SLC22A3 solute carrier family 22 member 3 gene DOID:820 myocarditis ISO RGD:1351828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 12398987 SLC22A3 solute carrier family 22 member 3 gene DOID:9000220 Coxsackievirus Infections ISO RGD:1351828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 12398987 SLC22A3 solute carrier family 22 member 3 gene DOID:9002265 Kidney Neoplasms ISO RGD:735816 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:23228442|REF_RGD_ID:7243178 12398987 SLC22A3 solute carrier family 22 member 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17173048 12398987 SLC22A3 solute carrier family 22 member 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 12398987 SLC22A3 solute carrier family 22 member 3 gene DOID:9970 obesity ISO RGD:1351828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27401566 12399007 COPG1 COPI coat complex subunit gamma 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1345265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12399007 COPG1 COPI coat complex subunit gamma 1 gene DOID:1790 malignant mesothelioma ISO RGD:1345265 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26463840 12399007 COPG1 COPI coat complex subunit gamma 1 gene DOID:630 genetic disease ISO RGD:1345265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399007 COPG1 COPI coat complex subunit gamma 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1345265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 12399007 COPG1 COPI coat complex subunit gamma 1 gene DOID:9270 alkaptonuria ISO RGD:1345265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12399034 PCIF1 phosphorylated CTD interacting factor 1 gene DOID:2234 focal epilepsy ISO RGD:1321911 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12399034 PCIF1 phosphorylated CTD interacting factor 1 gene DOID:630 genetic disease ISO RGD:1321911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399034 PCIF1 phosphorylated CTD interacting factor 1 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1321911 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12399058 HERC5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 gene DOID:289 endometriosis ISO RGD:1346007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12399058 HERC5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 gene DOID:630 genetic disease ISO RGD:1346007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399058 HERC5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1346007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28919514 12399058 HERC5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1346007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12399058 HERC5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 gene DOID:9001488 Human Influenza ISO RGD:1346007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12399086 ENO3 enolase 3 gene DOID:0050941 spastic ataxia 2 ISO RGD:732414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 12399086 ENO3 enolase 3 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:732414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 12399086 ENO3 enolase 3 gene DOID:1712 aortic valve stenosis ISO RGD:2555 D RGD:9068941 20200609 RGD mRNA:decreased expression:cardiac muscle cell PMID:8594891|REF_RGD_ID:2301765 12399086 ENO3 enolase 3 gene DOID:409 liver disease ISO RGD:732414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12399086 ENO3 enolase 3 gene DOID:630 genetic disease ISO RGD:732414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12399086 ENO3 enolase 3 gene DOID:9005328 Glycogen Storage Disease XIII ISO RGD:732414 D RGD:7240710 20180130 OMIM 12399086 ENO3 enolase 3 gene DOID:9005328 Glycogen Storage Disease XIII ISO RGD:732414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Enolase 3 deficiency | ClinVar Annotator: match by term: Enolase-beta deficiency PMID:11506403|PMID:16199547|PMID:17576681|PMID:18070103|PMID:25267339|PMID:25741868|PMID:28492532|PMID:31741825|PMID:33004838|PMID:9536098 12399108 KRTCAP2 keratinocyte associated protein 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1318165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12399108 KRTCAP2 keratinocyte associated protein 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1318165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12399108 KRTCAP2 keratinocyte associated protein 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1318165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12399108 KRTCAP2 keratinocyte associated protein 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1318165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12399108 KRTCAP2 keratinocyte associated protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1318165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12399108 KRTCAP2 keratinocyte associated protein 2 gene DOID:5812 MHC class II deficiency ISO RGD:1318165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12399108 KRTCAP2 keratinocyte associated protein 2 gene DOID:630 genetic disease ISO RGD:1318165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399108 KRTCAP2 keratinocyte associated protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12399117 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:0080016 spina bifida ISO RGD:732147 D RGD:9068941 20200609 RGD PMID:9611072|REF_RGD_ID:1600190 12399117 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:0080074 neural tube defect ISO RGD:732147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12384833|PMID:16552426 12399117 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:0080074 neural tube defect ISO RGD:732147 D RGD:9068941 20200609 RGD PMID:16315005|REF_RGD_ID:1600189 12399117 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:0080074 neural tube defect susceptibility ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP:cds:1958G>A (rs2236225)(human) PMID:25524527|REF_RGD_ID:11086705 12399117 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:0080633 developmental cardiac valvular defect susceptibility ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.R653Q(c.1958G>A)(human) PMID:18767138|REF_RGD_ID:12910957 12399117 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:14250 Down syndrome ISO RGD:732147 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:15068241|REF_RGD_ID:12914150 12399117 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:14250 Down syndrome no_association ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP:cds:1958G>A(human) PMID:22339736|REF_RGD_ID:12910960 12399117 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:14250 Down syndrome susceptibility ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP:cds:1958 G>A (rs2236225)(human) PMID:25671679|REF_RGD_ID:12910959 12399117 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:627 severe combined immunodeficiency ISO RGD:732147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:21813566|PMID:23296427|PMID:23402911|PMID:25548164|PMID:25633902|PMID:25741868|PMID:27707659|PMID:28492532|PMID:31203817|PMID:31589614|PMID:32414565 12399117 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:630 genetic disease ISO RGD:732147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12399117 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:6419 tetralogy of Fallot susceptibility ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.R653Q(c.1958G>A)(human) PMID:18767138|REF_RGD_ID:12910957 12399117 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:674 cleft palate susceptibility ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP:cds:1958 G>A (rs2236225)(human) PMID:18661527|REF_RGD_ID:12914151 12399117 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:732147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive | ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to | ClinVar Annotator: match by term: Spina bifida, folate-sensitive, susceptibility to PMID:15633187|PMID:16315005|PMID:16552426|PMID:17894836|PMID:18277167|PMID:24033266|PMID:25741868|PMID:28492532 12399117 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9001989 Folate-Sensitive Neural Tube Defects susceptibility ISO RGD:732147 D RGD:7240710 20230517 OMIM 12399117 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:732148 D RGD:9068941 20200609 RGD PMID:22378735|REF_RGD_ID:12910955 12399117 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9002231 Fetal Growth Retardation susceptibility ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP: :401A>G(human) PMID:25118499|REF_RGD_ID:12910958 12399117 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9002231 Fetal Growth Retardation susceptibility ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP:cds:1958G>A(human) PMID:18771981|REF_RGD_ID:12914148 12399117 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9009055 Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia ISO RGD:732147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia PMID:11004530|PMID:15633187|PMID:16199547|PMID:16315005|PMID:16552426|PMID:17894836|PMID:18277167|PMID:21813566|PMID:23296427|PMID:23402911|PMID:24033266|PMID:25548164|PMID:25633902|PMID:25741868|PMID:27707659|PMID:28492532|PMID:31203817|PMID:31589614|PMID:32414565 12399117 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9009055 Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia susceptibility ISO RGD:732147 D RGD:7240710 20230517 OMIM 12399117 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9296 cleft lip no_association ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP:cds:1958G>A(human) PMID:18261183|REF_RGD_ID:12910962 12399117 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9296 cleft lip susceptibility ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP:cds:1958G>A(human) PMID:25129243|REF_RGD_ID:12910961 12399117 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9667 placental abruption ISO RGD:732147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15633187 12399152 RAC2 Rac family small GTPase 2 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1316839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457648 12399152 RAC2 Rac family small GTPase 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12399152 RAC2 Rac family small GTPase 2 gene DOID:0060058 lymphoma ISO RGD:1316839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19783987 12399152 RAC2 Rac family small GTPase 2 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1316839 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12399152 RAC2 Rac family small GTPase 2 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1316839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12399152 RAC2 Rac family small GTPase 2 gene DOID:0112061 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia ISO RGD:1316839 D RGD:7240710 20200902 OMIM 12399152 RAC2 Rac family small GTPase 2 gene DOID:0112061 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia ISO RGD:1316839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia PMID:25741868|PMID:28492532|PMID:30654050|PMID:30723080|PMID:31071452 12399152 RAC2 Rac family small GTPase 2 gene DOID:0112062 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia ISO RGD:1316839 D RGD:7240710 20200902 OMIM 12399152 RAC2 Rac family small GTPase 2 gene DOID:0112062 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia ISO RGD:1316839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia PMID:25512081|PMID:25741868|PMID:28492532 12399152 RAC2 Rac family small GTPase 2 gene DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis ISO RGD:1316839 D RGD:7240710 20180130 OMIM 12399152 RAC2 Rac family small GTPase 2 gene DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis ISO RGD:1316839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neutrophil immunodeficiency syndrome PMID:10758162|PMID:10961859|PMID:11278678|PMID:14676277|PMID:17576681|PMID:21167572|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30723080|PMID:33188496|PMID:9536098 12399152 RAC2 Rac family small GTPase 2 gene DOID:10283 prostate cancer ISO RGD:1316839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12399152 RAC2 Rac family small GTPase 2 gene DOID:114 heart disease ISO RGD:1316839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16330681 12399152 RAC2 Rac family small GTPase 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1316839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12399152 RAC2 Rac family small GTPase 2 gene DOID:1909 melanoma ISO RGD:1316839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 12399152 RAC2 Rac family small GTPase 2 gene DOID:627 severe combined immunodeficiency ISO RGD:1316839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:25741868|PMID:28492532|PMID:30723080 12399152 RAC2 Rac family small GTPase 2 gene DOID:630 genetic disease ISO RGD:1316839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12399152 RAC2 Rac family small GTPase 2 gene DOID:9000918 Disease Progression ISO RGD:1316839 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:35331739 12399152 RAC2 Rac family small GTPase 2 gene DOID:9001004 Chronic Periodontitis ISO RGD:1316839 D RGD:9068941 20200609 RGD mRNA:increased expression:gingival tissues PMID:21382035|REF_RGD_ID:6480655 12399152 RAC2 Rac family small GTPase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12399152 RAC2 Rac family small GTPase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1316839 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:35331739 12399163 ELAVL2 ELAV like RNA binding protein 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1314763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 12399163 ELAVL2 ELAV like RNA binding protein 2 gene DOID:5419 schizophrenia ISO RGD:1314763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12399163 ELAVL2 ELAV like RNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1314763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399163 ELAVL2 ELAV like RNA binding protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1314763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:0040084 Streptococcus pneumonia severity ISO RGD:1315104 D RGD:9068941 20200911 RGD PMID:17322108|REF_RGD_ID:38599154 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:0050211 swine influenza ISO RGD:1315104 D RGD:9068941 20200917 RGD PMID:27468760|REF_RGD_ID:38599196 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:0050211 swine influenza severity ISO RGD:1315103 D RGD:9068941 20200917 RGD DNA:misense mutation, substitution:cds:S1635Y, D2850D (rs17847825, rs2230460 ) (human) PMID:29867955|REF_RGD_ID:38599181 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:0050211 swine influenza severity ISO RGD:1315104 D RGD:9068941 20200917 RGD PMID:29867955|REF_RGD_ID:38599181 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1315103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21173233 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:0050902 medulloblastoma ISO RGD:1315103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21652733 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:0060180 colitis ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:21244371|REF_RGD_ID:6482682 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:0081267 graft-versus-host disease ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:21402770|REF_RGD_ID:6482681 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:10126 keratoconus ISO RGD:1315103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:10283 prostate cancer ISO RGD:1315103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:10652 Alzheimer's disease ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:20025958|REF_RGD_ID:6482689 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:12849 autistic disorder ISO RGD:1315103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14627686 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:12849 autistic disorder ISO RGD:1315103 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs1129293 (human) PMID:14627686|REF_RGD_ID:6482702 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:1324 lung cancer ISO RGD:1315103 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:13622 campylobacteriosis treatment ISO RGD:1315104 D RGD:9068941 20200917 RGD PMID:23180818|REF_RGD_ID:38599193 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:14069 cerebral malaria ISO RGD:1315104 D RGD:9068941 20200917 RGD PMID:25775137|REF_RGD_ID:38599200 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:1485 cystic fibrosis ISO RGD:1315103 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:25741868 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:1936 atherosclerosis severity ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:17483449|REF_RGD_ID:1642394 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:2841 asthma ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:18754810|REF_RGD_ID:6482695 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:2843 long QT syndrome ISO RGD:1315103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:1315103 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas (human) PMID:20876794|REF_RGD_ID:14390130 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:399 tuberculosis ISO RGD:1315104 D RGD:9068941 20200917 RGD PMID:30514491|REF_RGD_ID:38599199 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:5082 liver cirrhosis treatment ISO RGD:1306468 D RGD:9068941 20200917 RGD associated with Schistosomiasis Japonica PMID:29323718|REF_RGD_ID:38599216 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:5844 myocardial infarction ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:20056919|REF_RGD_ID:6482688 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:6000 congestive heart failure ISO RGD:1315103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12963636 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:6000 congestive heart failure ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:15936620|REF_RGD_ID:6482699 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:630 genetic disease ISO RGD:1315103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:820 myocarditis ISO RGD:1315104 D RGD:9068941 20200917 RGD associated with endotoxemia PMID:20028656|REF_RGD_ID:38599186 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:8632 Kaposi's sarcoma treatment ISO RGD:1315104 D RGD:9068941 20201218 RGD PMID:21665152|REF_RGD_ID:38599159 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:8947 diabetic retinopathy ISO RGD:1306468 D RGD:9068941 20210219 RGD mRNA, protein:increased expression:retina PMID:31759996|REF_RGD_ID:41410819 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9000099 Experimental Colitis susceptibility ISO RGD:1315104 D RGD:9068941 20200917 RGD PMID:20347874|REF_RGD_ID:38599183 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9000784 Fibrosis ISO RGD:1306468 D RGD:9068941 20200609 RGD PMID:21866628|REF_RGD_ID:6482708 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9000784 Fibrosis ISO RGD:1315103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12963636 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:16374167|REF_RGD_ID:6482697 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9002457 Experimental Arthritis ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:18412166|PMID:20374644|REF_RGD_ID:6482684|REF_RGD_ID:6482696 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:20303183|REF_RGD_ID:6482686 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9003936 Cardiomegaly ISO RGD:1315103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12963636 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9004179 Immunodeficiency 97 with Autoinflammation ISO RGD:1315103 D RGD:7240710 20220413 OMIM 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9004179 Immunodeficiency 97 with Autoinflammation ISO RGD:1315103 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Immunodeficiency 97 with autoinflammation PMID:31554793|PMID:33054089 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9004422 Chagas Cardiomyopathy ISO RGD:1315104 D RGD:9068941 20200911 RGD mRNA:increased expression:heart (mouse) PMID:29666415|REF_RGD_ID:38599151 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9004422 Chagas Cardiomyopathy disease_progression ISO RGD:1315103 D RGD:9068941 20200911 RGD mRNA:increased expression:heart (human) PMID:29666415|REF_RGD_ID:38599151 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9004422 Chagas Cardiomyopathy disease_progression ISO RGD:1315104 D RGD:9068941 20200911 RGD PMID:29666415|REF_RGD_ID:38599151 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9004484 Sepsis ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:20508212|REF_RGD_ID:6482683 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9004610 Acute Lung Injury ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:22198681|REF_RGD_ID:6482677 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9004610 Acute Lung Injury ISO RGD:1315104 D RGD:9068941 20200917 RGD associated with endotoxemia PMID:11714830|REF_RGD_ID:38599213 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9005372 Inflammation ISO RGD:1306468 D RGD:9068941 20200609 RGD PMID:17526805|REF_RGD_ID:1642429 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9007096 Stroke ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:21546487|REF_RGD_ID:6482678 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:20179753|REF_RGD_ID:6482687 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9008104 Cancer Pain ISO RGD:1306468 D RGD:9068941 20220505 RGD mRNA, protein:increased expression:spinal cord (rat) PMID:25919859|REF_RGD_ID:152025537 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315104 D RGD:9068941 20200609 RGD associated with Colitis PMID:20004201|REF_RGD_ID:6482694 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9074 systemic lupus erythematosus ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:16365454|REF_RGD_ID:6482698 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9352 type 2 diabetes mellitus ISO RGD:1315103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31626838 12399201 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9970 obesity ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:21949398|REF_RGD_ID:6482700 12399221 SYT13 synaptotagmin 13 gene DOID:1059 intellectual disability ISO RGD:735243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12399221 SYT13 synaptotagmin 13 gene DOID:630 genetic disease ISO RGD:735243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399221 SYT13 synaptotagmin 13 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 12399231 CASZ1 castor zinc finger 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606535 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12399231 CASZ1 castor zinc finger 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606535 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12399231 CASZ1 castor zinc finger 1 gene DOID:0060224 atrial fibrillation ISO RGD:1606535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12399231 CASZ1 castor zinc finger 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606535 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12399231 CASZ1 castor zinc finger 1 gene DOID:0111936 immunodeficiency 14 ISO RGD:1606535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 12399231 CASZ1 castor zinc finger 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 12399231 CASZ1 castor zinc finger 1 gene DOID:630 genetic disease ISO RGD:1606535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12399231 CASZ1 castor zinc finger 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 12399231 CASZ1 castor zinc finger 1 gene DOID:9006158 Peroxisome Biogenesis Disorder, Complementation Group K ISO RGD:1606535 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K PMID:28492532 12399231 CASZ1 castor zinc finger 1 gene DOID:9007096 Stroke ISO RGD:1606535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 12399231 CASZ1 castor zinc finger 1 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1606535 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 12399254 H2AC12 H2A clustered histone 12 gene DOID:630 genetic disease ISO RGD:1349795 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399258 SIX1 SIX homeobox 1 gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:731648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA PMID:25741868 12399258 SIX1 SIX homeobox 1 gene DOID:0110553 autosomal dominant nonsyndromic deafness 23 ISO RGD:731648 D RGD:7240710 20180130 OMIM 12399258 SIX1 SIX homeobox 1 gene DOID:0110553 autosomal dominant nonsyndromic deafness 23 ISO RGD:731648 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 23 PMID:10777717|PMID:12843324|PMID:15141091|PMID:16652090|PMID:16971658|PMID:19497856|PMID:21254961|PMID:21280147|PMID:21700001|PMID:24033266|PMID:25326635|PMID:25741868|PMID:25788563|PMID:28492532|PMID:30311386|PMID:35802133|PMID:36633841 12399258 SIX1 SIX homeobox 1 gene DOID:0111423 branchiootorenal syndrome 1 ISO RGD:731648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Branchiootorenal Syndrome 1 | ClinVar Annotator: match by term: Branchiootorenal syndrome 1 PMID:12843324|PMID:15141091|PMID:16652090|PMID:19497856|PMID:21254961|PMID:21280147|PMID:24033266|PMID:25326635|PMID:25741868|PMID:25788563|PMID:28492532 12399258 SIX1 SIX homeobox 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:731648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Branchiootorenal Spectrum Disorders | ClinVar Annotator: match by term: Melnick-Fraser syndrome PMID:18330911|PMID:24164807|PMID:25741868 12399258 SIX1 SIX homeobox 1 gene DOID:1612 breast cancer severity ISO RGD:731648 D RGD:9068941 20200609 RGD mRNA:increased expression:breast epithelium (human) PMID:9770533|REF_RGD_ID:11561960 12399258 SIX1 SIX homeobox 1 gene DOID:2154 nephroblastoma ISO RGD:731648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 12399258 SIX1 SIX homeobox 1 gene DOID:2154 nephroblastoma severity ISO RGD:731648 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q177R (human) PMID:25670083|REF_RGD_ID:11561953 12399258 SIX1 SIX homeobox 1 gene DOID:2154 nephroblastoma severity ISO RGD:731648 D RGD:9068941 20200609 RGD protein:increased expression:kidney, blastema (human) PMID:22180226|REF_RGD_ID:11561963 12399258 SIX1 SIX homeobox 1 gene DOID:3192 neurilemmoma ISO RGD:731648 D RGD:9068941 20200609 RGD mRNA:increased expression:Schwann cell (human) PMID:19901965|REF_RGD_ID:11561959 12399258 SIX1 SIX homeobox 1 gene DOID:4001 ovarian carcinoma severity ISO RGD:731648 D RGD:9068941 20200609 RGD mRNA:increased expression:female gonad (human) PMID:17409410|REF_RGD_ID:11561962 12399258 SIX1 SIX homeobox 1 gene DOID:630 genetic disease ISO RGD:731648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:30311386 12399258 SIX1 SIX homeobox 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:731648 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:17008870|REF_RGD_ID:11561961 12399258 SIX1 SIX homeobox 1 gene DOID:9000096 Lung Agenesis ISO RGD:1550080 D RGD:9068941 20200609 RGD PMID:21385574|REF_RGD_ID:11561981 12399258 SIX1 SIX homeobox 1 gene DOID:9000096 Lung Agenesis ISO RGD:620906 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:lung epithelium: PMID:24528972|REF_RGD_ID:8554873 12399258 SIX1 SIX homeobox 1 gene DOID:9000096 Lung Agenesis ISO RGD:731648 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (rat) PMID:24528972|REF_RGD_ID:8554873 12399258 SIX1 SIX homeobox 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731648 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:23435380|REF_RGD_ID:11561950 12399258 SIX1 SIX homeobox 1 gene DOID:9001460 22q11 Deletion Syndrome ISO RGD:1550080 D RGD:9068941 20200609 RGD PMID:21364285|REF_RGD_ID:11561941 12399258 SIX1 SIX homeobox 1 gene DOID:9001767 Unilateral Hearing Loss ISO RGD:731648 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Unilateral deafness 12399258 SIX1 SIX homeobox 1 gene DOID:9002083 Branchiootic Syndrome 1 ISO RGD:731648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branchiootic syndrome 1 PMID:12843324|PMID:15141091|PMID:16652090|PMID:19497856|PMID:21254961|PMID:24033266|PMID:25741868 12399258 SIX1 SIX homeobox 1 gene DOID:9004538 Hearing Loss ISO RGD:731648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386 12399258 SIX1 SIX homeobox 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:1550080 D RGD:9068941 20200609 RGD PMID:12834866|REF_RGD_ID:8554898 12399258 SIX1 SIX homeobox 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:731648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12834866 12399258 SIX1 SIX homeobox 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:731648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27259717 12399258 SIX1 SIX homeobox 1 gene DOID:9007844 Branchiootic Syndrome 3 ISO RGD:731648 D RGD:7240710 20180130 OMIM 12399258 SIX1 SIX homeobox 1 gene DOID:9007844 Branchiootic Syndrome 3 ISO RGD:731648 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Branchiootic syndrome 3 PMID:10777717|PMID:12843324|PMID:15141091|PMID:16652090|PMID:16971658|PMID:17637804|PMID:18330911|PMID:18666230|PMID:19497856|PMID:21254961|PMID:21280147|PMID:21700001|PMID:24033266|PMID:24164807|PMID:25326635|PMID:25414181|PMID:25741868|PMID:25788563|PMID:28492532|PMID:30311386|PMID:31980437|PMID:35802133|PMID:36633841 12399258 SIX1 SIX homeobox 1 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:731648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant 12399258 SIX1 SIX homeobox 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:731648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12834866 12399264 LOC491791 serine/threonine-protein phosphatase 4 regulatory subunit 3B-like gene DOID:12849 autistic disorder ISO RGD:1602982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12399264 LOC491791 serine/threonine-protein phosphatase 4 regulatory subunit 3B-like gene DOID:684 hepatocellular carcinoma ISO RGD:1602982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12399269 MYL6 myosin light chain 6 gene DOID:630 genetic disease ISO RGD:1313756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399282 OR2B11 olfactory receptor family 2 subfamily B member 11 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1349718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12399282 OR2B11 olfactory receptor family 2 subfamily B member 11 gene DOID:1540 parathyroid carcinoma ISO RGD:1349718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12399282 OR2B11 olfactory receptor family 2 subfamily B member 11 gene DOID:630 genetic disease ISO RGD:1349718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399282 OR2B11 olfactory receptor family 2 subfamily B member 11 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1349718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532|PMID:29611406 12399282 OR2B11 olfactory receptor family 2 subfamily B member 11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12399285 KDM8 lysine demethylase 8 gene DOID:1612 breast cancer ISO RGD:1602684 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:20457893|REF_RGD_ID:9587844 12399285 KDM8 lysine demethylase 8 gene DOID:1925 Coffin-Siris syndrome ISO RGD:1602684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome PMID:25741868 12399285 KDM8 lysine demethylase 8 gene DOID:630 genetic disease ISO RGD:1602684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399285 KDM8 lysine demethylase 8 gene DOID:684 hepatocellular carcinoma ISO RGD:1602684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12399307 SMCO1 single-pass membrane protein with coiled-coil domains 1 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1604495 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 12399307 SMCO1 single-pass membrane protein with coiled-coil domains 1 gene DOID:12849 autistic disorder ISO RGD:1604495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12399307 SMCO1 single-pass membrane protein with coiled-coil domains 1 gene DOID:5419 schizophrenia ISO RGD:1604495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12399307 SMCO1 single-pass membrane protein with coiled-coil domains 1 gene DOID:630 genetic disease ISO RGD:1604495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399314 OTX1 orthodenticle homeobox 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12399314 OTX1 orthodenticle homeobox 1 gene DOID:630 genetic disease ISO RGD:736236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399323 OMG oligodendrocyte myelin glycoprotein gene DOID:0111253 neurofibromatosis 1 ISO RGD:30306369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10587576|PMID:10607834|PMID:10631140|PMID:10712197|PMID:10980545|PMID:11857752|PMID:12566521|PMID:12807981|PMID:14722914|PMID:15257518|PMID:1568247|PMID:16199547|PMID:16283621|PMID:16786508|PMID:18183042|PMID:18196300|PMID:19221814|PMID:20513137|PMID:22241097|PMID:22807134|PMID:22837079|PMID:23244495|PMID:23532973|PMID:23913538|PMID:24033266|PMID:24232412|PMID:24357598|PMID:24958239|PMID:25205021|PMID:25480383|PMID:25541118|PMID:25631097|PMID:25640679|PMID:26178382|PMID:26189818|PMID:26458495|PMID:26635368|PMID:26740943|PMID:27322474|PMID:27629806|PMID:28492532|PMID:30530636|PMID:33877690|PMID:8116612|PMID:8931693|PMID:9643287 12399323 OMG oligodendrocyte myelin glycoprotein gene DOID:1969 cerebral palsy ISO RGD:30306369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12399323 OMG oligodendrocyte myelin glycoprotein gene DOID:630 genetic disease ISO RGD:30306369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399323 OMG oligodendrocyte myelin glycoprotein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:30306369 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868 12399323 OMG oligodendrocyte myelin glycoprotein gene DOID:9008086 Developmental Disabilities ISO RGD:30306369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 12399330 BARHL2 BarH like homeobox 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1344726 D RGD:9068941 20200609 RGD protein:decreased expression:mouth mucosa PMID:27542258|REF_RGD_ID:14390167 12399330 BARHL2 BarH like homeobox 2 gene DOID:10534 stomach cancer treatment ISO RGD:1344726 D RGD:9068941 20200609 RGD PMID:27441821|REF_RGD_ID:14392685 12399330 BARHL2 BarH like homeobox 2 gene DOID:630 genetic disease ISO RGD:1344726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399330 BARHL2 BarH like homeobox 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1344726 D RGD:9068941 20200609 RGD associated with oral squamous cell carcinoma; mRNA:decreased expression:mouth mucosa PMID:27542258|REF_RGD_ID:14390167 12399330 BARHL2 BarH like homeobox 2 gene DOID:9256 colorectal cancer severity ISO RGD:1344726 D RGD:9068941 20200609 RGD PMID:27453340|REF_RGD_ID:14392684 12399337 UQCC3 ubiquinol-cytochrome c reductase complex assembly factor 3 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:2298819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12399337 UQCC3 ubiquinol-cytochrome c reductase complex assembly factor 3 gene DOID:0080118 mitochondrial complex III deficiency nuclear type 9 ISO RGD:2298819 D RGD:7240710 20180130 OMIM 12399337 UQCC3 ubiquinol-cytochrome c reductase complex assembly factor 3 gene DOID:0080118 mitochondrial complex III deficiency nuclear type 9 ISO RGD:2298819 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 9 PMID:25008109|PMID:25741868|PMID:28492532 12399337 UQCC3 ubiquinol-cytochrome c reductase complex assembly factor 3 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:2298819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 12399337 UQCC3 ubiquinol-cytochrome c reductase complex assembly factor 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:2298819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12399337 UQCC3 ubiquinol-cytochrome c reductase complex assembly factor 3 gene DOID:1059 intellectual disability ISO RGD:2298819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12399337 UQCC3 ubiquinol-cytochrome c reductase complex assembly factor 3 gene DOID:630 genetic disease ISO RGD:2298819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399343 FAM3A FAM3 metabolism regulating signaling molecule A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349782 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12399343 FAM3A FAM3 metabolism regulating signaling molecule A gene DOID:0050476 Barth syndrome ISO RGD:1349782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12399343 FAM3A FAM3 metabolism regulating signaling molecule A gene DOID:0050800 creatine transporter deficiency ISO RGD:1349782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12399343 FAM3A FAM3 metabolism regulating signaling molecule A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12399343 FAM3A FAM3 metabolism regulating signaling molecule A gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 12399343 FAM3A FAM3 metabolism regulating signaling molecule A gene DOID:0112003 immunodeficiency 33 ISO RGD:1349782 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12399343 FAM3A FAM3 metabolism regulating signaling molecule A gene DOID:10588 adrenoleukodystrophy ISO RGD:1349782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12399343 FAM3A FAM3 metabolism regulating signaling molecule A gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12399343 FAM3A FAM3 metabolism regulating signaling molecule A gene DOID:12849 autistic disorder ISO RGD:1349782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12399343 FAM3A FAM3 metabolism regulating signaling molecule A gene DOID:13628 favism ISO RGD:1349782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12399343 FAM3A FAM3 metabolism regulating signaling molecule A gene DOID:2729 dyskeratosis congenita ISO RGD:1349782 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12399343 FAM3A FAM3 metabolism regulating signaling molecule A gene DOID:607 paraplegia ISO RGD:1349782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12399343 FAM3A FAM3 metabolism regulating signaling molecule A gene DOID:630 genetic disease ISO RGD:1349782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399343 FAM3A FAM3 metabolism regulating signaling molecule A gene DOID:9002720 Splenomegaly ISO RGD:1349782 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12399358 F5 coagulation factor V gene DOID:0050424 familial adenomatous polyposis ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25200834 12399358 F5 coagulation factor V gene DOID:0050860 colorectal adenoma ISO RGD:1344593 D RGD:9068941 20210115 RGD protein:increased expression:serum PMID:30971492|REF_RGD_ID:40907058 12399358 F5 coagulation factor V gene DOID:0050864 non-arteritic anterior ischemic optic neuropathy ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R506Q (1691G>A) (human) PMID:15043529|REF_RGD_ID:7394764 12399358 F5 coagulation factor V gene DOID:0060903 thrombosis ISO RGD:10557 D RGD:9068941 20200609 RGD PMID:11110695|REF_RGD_ID:11564340 12399358 F5 coagulation factor V gene DOID:0060903 thrombosis ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11132655|PMID:9164807 12399358 F5 coagulation factor V gene DOID:0060903 thrombosis ISO RGD:1344593 D RGD:9068941 20200609 RGD associated with kidney failure, chronic;DNA:mutation: :1691G>A(human) PMID:16549134|REF_RGD_ID:6893627 12399358 F5 coagulation factor V gene DOID:0080600 COVID-19 ISO RGD:1344593 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12399358 F5 coagulation factor V gene DOID:0111902 thrombophilia due to activated protein C resistance ISO RGD:1344593 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombophilia due to activated protein C resistance PMID:10328130|PMID:10348711|PMID:10477778|PMID:10494770|PMID:10507841|PMID:10666427|PMID:11018168|PMID:11110695|PMID:11686338|PMID:11950065|PMID:12070000|PMID:12421138|PMID:12816860|PMID:14617013|PMID:14695241|PMID:14996674|PMID:15534175|PMID:15638861|PMID:16246256|PMID:16493002|PMID:16931580|PMID:19486170|PMID:19652888|PMID:20051284|PMID:21116184|PMID:21774968|PMID:22704462|PMID:23382263|PMID:23677252|PMID:23900608|PMID:24033266|PMID:25741868|PMID:25977387|PMID:26251307|PMID:26990548|PMID:27797270|PMID:28492532|PMID:31064749|PMID:34355501|PMID:7586244|PMID:7803250|PMID:7877648|PMID:7910348|PMID:7911872|PMID:8049422|PMID:8164730|PMID:8164741|PMID:8566967|PMID:8616100|PMID:8822583|PMID:9245936|PMID:9339109|PMID:9372726|PMID:9415695|PMID:9454741|PMID:9454742|PMID:9459326|PMID:9518910|PMID:9734642|PMID:9746807 12399358 F5 coagulation factor V gene DOID:0111902 thrombophilia due to activated protein C resistance susceptibility ISO RGD:1344593 D RGD:7240710 20230517 OMIM 12399358 F5 coagulation factor V gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:1344593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thrombophilia due to thrombin defect PMID:11950065|PMID:12816860|PMID:16246256|PMID:19486170|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31064749|PMID:34355501 12399358 F5 coagulation factor V gene DOID:10003 sensorineural hearing loss ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:mutation PMID:16015153|REF_RGD_ID:7387260 12399358 F5 coagulation factor V gene DOID:10003 sensorineural hearing loss no_association ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:SNP: :1691G>A (human) PMID:16572609|REF_RGD_ID:7387240 12399358 F5 coagulation factor V gene DOID:10283 prostate cancer ISO RGD:1344593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12399358 F5 coagulation factor V gene DOID:10487 Hirschsprung's disease ISO RGD:1344593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 12399358 F5 coagulation factor V gene DOID:10591 pre-eclampsia severity ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:mutation: :1691G>A(human) PMID:16246971|REF_RGD_ID:6893628 12399358 F5 coagulation factor V gene DOID:10762 portal hypertension ISO RGD:10557 D RGD:9068941 20200609 RGD associated with Acute Hepatitis;protein:decreased expression:serum (human) PMID:2777210|REF_RGD_ID:14700665 12399358 F5 coagulation factor V gene DOID:10762 portal hypertension ISO RGD:1344593 D RGD:9068941 20200609 RGD associated with Acute Hepatitis;protein:decreased expression:serum (human) PMID:2777210|REF_RGD_ID:14700665 12399358 F5 coagulation factor V gene DOID:10762 portal hypertension ISO RGD:1589758 D RGD:9068941 20200609 RGD associated with Acute Hepatitis;protein:decreased expression:serum (human) PMID:2777210|REF_RGD_ID:14700665 12399358 F5 coagulation factor V gene DOID:11512 Budd-Chiari syndrome ISO RGD:1344593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Budd-Chiari syndrome PMID:11950065|PMID:16246256|PMID:19486170|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31064749|PMID:34355501 12399358 F5 coagulation factor V gene DOID:11512 Budd-Chiari syndrome disease_progression ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:R506Q (human) PMID:26238013|REF_RGD_ID:11537993 12399358 F5 coagulation factor V gene DOID:11512 Budd-Chiari syndrome severity ISO RGD:1344593 D RGD:9068941 20200609 RGD Factor V Leiden;DNA:missense mutation:cds:G1691A (human) PMID:29771426|REF_RGD_ID:14700660 12399358 F5 coagulation factor V gene DOID:11512 Budd-Chiari syndrome severity ISO RGD:1344593 D RGD:9068941 20200609 RGD associated with hyperhomocysteinemia:DNA:missense mutation:cds: (R506Q) (human) PMID:16825912|REF_RGD_ID:14700661 12399358 F5 coagulation factor V gene DOID:11512 Budd-Chiari syndrome susceptibility ISO RGD:1344593 D RGD:7240710 20230517 OMIM 12399358 F5 coagulation factor V gene DOID:1247 blood coagulation disease ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17721328 12399358 F5 coagulation factor V gene DOID:13241 Behcet's disease no_association ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:mutation: :1691G>A (human) PMID:15077257|REF_RGD_ID:7394769 12399358 F5 coagulation factor V gene DOID:1540 parathyroid carcinoma ISO RGD:1344593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12399358 F5 coagulation factor V gene DOID:1612 breast cancer ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:25407022|REF_RGD_ID:10449101 12399358 F5 coagulation factor V gene DOID:1612 breast cancer no_association ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:SNPs: :rs6025 (human) PMID:25407022|REF_RGD_ID:10449101 12399358 F5 coagulation factor V gene DOID:1727 retinal vein occlusion ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12022286 12399358 F5 coagulation factor V gene DOID:1727 retinal vein occlusion ISO RGD:1344593 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:missense mutation:cds:p.R506Q (human) PMID:10511031|REF_RGD_ID:7394767 12399358 F5 coagulation factor V gene DOID:1727 retinal vein occlusion no_association ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:SNP:cds:1691G>A (human) PMID:10634550|REF_RGD_ID:7394773 12399358 F5 coagulation factor V gene DOID:1727 retinal vein occlusion onset ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:1691G>A (human) PMID:16113792|REF_RGD_ID:7394778 12399358 F5 coagulation factor V gene DOID:2213 hemorrhagic disease ISO RGD:1344593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:31064749|PMID:34355501 12399358 F5 coagulation factor V gene DOID:2216 factor V deficiency ISO RGD:1344593 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Factor V deficiency | ClinVar Annotator: match by term: PARAHEMOPHILIA PMID:10328130|PMID:10348711|PMID:10477778|PMID:10494770|PMID:10507841|PMID:10666427|PMID:10942390|PMID:11018168|PMID:11110695|PMID:11418372|PMID:11435304|PMID:11564077|PMID:11686338|PMID:11781258|PMID:11950065|PMID:12070000|PMID:12393490|PMID:12421138|PMID:12816860|PMID:14996674|PMID:15534175|PMID:15638861|PMID:16246256|PMID:16476093|PMID:16493002|PMID:16931580|PMID:19486170|PMID:19652888|PMID:19900106|PMID:20051284|PMID:20735394|PMID:21116184|PMID:21774968|PMID:22044617|PMID:22704462|PMID:23382263|PMID:23677252|PMID:23900608|PMID:24033266|PMID:25741868|PMID:25977387|PMID:26251307|PMID:26990548|PMID:27797270|PMID:28492532|PMID:31064749|PMID:31268865|PMID:34355501|PMID:7586244|PMID:7803250|PMID:7877648|PMID:7910348|PMID:7911872|PMID:8049422|PMID:8164730|PMID:8164741|PMID:8566967|PMID:8616100|PMID:8822583|PMID:9245936|PMID:9339109|PMID:9372726|PMID:9415695|PMID:9454741|PMID:9459326|PMID:9488630|PMID:9518910|PMID:9694743|PMID:9734642|PMID:9746807 12399358 F5 coagulation factor V gene DOID:2216 factor V deficiency susceptibility ISO RGD:1344593 D RGD:7240710 20230517 OMIM 12399358 F5 coagulation factor V gene DOID:2237 hepatitis severity ISO RGD:10557 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:15340576|REF_RGD_ID:14700682 12399358 F5 coagulation factor V gene DOID:2237 hepatitis severity ISO RGD:1344593 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:15340576|REF_RGD_ID:14700682 12399358 F5 coagulation factor V gene DOID:2237 hepatitis severity ISO RGD:1589758 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:15340576|REF_RGD_ID:14700682 12399358 F5 coagulation factor V gene DOID:2237 hepatitis treatment ISO RGD:1344593 D RGD:9068941 20200609 RGD protein:increased expression (human) PMID:1903342|REF_RGD_ID:14700657 12399358 F5 coagulation factor V gene DOID:2316 brain ischemia ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15534175 12399358 F5 coagulation factor V gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1589758 D RGD:9068941 20200609 RGD PMID:15172885|REF_RGD_ID:1601118 12399358 F5 coagulation factor V gene DOID:3526 cerebral infarction ISO RGD:1344593 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ischemic stroke, susceptibility to PMID:10328130|PMID:10348711|PMID:10477778|PMID:10494770|PMID:10507841|PMID:10666427|PMID:11018168|PMID:11110695|PMID:11686338|PMID:12070000|PMID:12421138|PMID:14996674|PMID:15534175|PMID:15638861|PMID:16493002|PMID:16931580|PMID:19652888|PMID:20051284|PMID:21116184|PMID:21774968|PMID:22704462|PMID:23382263|PMID:23677252|PMID:23900608|PMID:24033266|PMID:25741868|PMID:25977387|PMID:26251307|PMID:26990548|PMID:27797270|PMID:28492532|PMID:34355501|PMID:7586244|PMID:7803250|PMID:7877648|PMID:7910348|PMID:7911872|PMID:8049422|PMID:8164730|PMID:8164741|PMID:8566967|PMID:8616100|PMID:8822583|PMID:9245936|PMID:9339109|PMID:9372726|PMID:9415695|PMID:9454741|PMID:9459326|PMID:9518910|PMID:9734642 12399358 F5 coagulation factor V gene DOID:3526 cerebral infarction susceptibility ISO RGD:1344593 D RGD:7240710 20230517 OMIM 12399358 F5 coagulation factor V gene DOID:3576 sagittal sinus thrombosis ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18382986 12399358 F5 coagulation factor V gene DOID:3770 pulmonary fibrosis severity ISO RGD:10557 D RGD:9068941 20200609 RGD PMID:11307811|REF_RGD_ID:11564339 12399358 F5 coagulation factor V gene DOID:5082 liver cirrhosis ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18485088 12399358 F5 coagulation factor V gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1344593 D RGD:9068941 20200609 RGD PMID:10520855|REF_RGD_ID:14700663 12399358 F5 coagulation factor V gene DOID:5082 liver cirrhosis susceptibility ISO RGD:1344593 D RGD:9068941 20200609 RGD associated with liver fibrosis, Factor V Leiden;DNA:missense mutation:cds:rs6025 (human) PMID:26226452|REF_RGD_ID:14700659 12399358 F5 coagulation factor V gene DOID:5844 myocardial infarction ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9531249 12399358 F5 coagulation factor V gene DOID:5844 myocardial infarction no_association ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:mutation:cds:1691G>A (human) PMID:10590188|REF_RGD_ID:11564337 12399358 F5 coagulation factor V gene DOID:5844 myocardial infarction susceptibility ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:mutation:cds:1691G>A (human) PMID:15131548|REF_RGD_ID:11564335 12399358 F5 coagulation factor V gene DOID:630 genetic disease ISO RGD:1344593 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10328130|PMID:10348711|PMID:10477778|PMID:10494770|PMID:10507841|PMID:10666427|PMID:11018168|PMID:11110695|PMID:11686338|PMID:12070000|PMID:12421138|PMID:14996674|PMID:15534175|PMID:15638861|PMID:16493002|PMID:16931580|PMID:19652888|PMID:20051284|PMID:21116184|PMID:21774968|PMID:22704462|PMID:23382263|PMID:23677252|PMID:23900608|PMID:24033266|PMID:25741868|PMID:25977387|PMID:26251307|PMID:26990548|PMID:27797270|PMID:28492532|PMID:34355501|PMID:7586244|PMID:7803250|PMID:7877648|PMID:7910348|PMID:7911872|PMID:8049422|PMID:8164730|PMID:8164741|PMID:8566967|PMID:8616100|PMID:8822583|PMID:9245936|PMID:9339109|PMID:9372726|PMID:9415695|PMID:9454741|PMID:9459326|PMID:9518910|PMID:9734642 12399358 F5 coagulation factor V gene DOID:6432 pulmonary hypertension ISO RGD:1344593 D RGD:9068941 20200609 RGD Chronic thromboembolic pulmonary hypertension (CTEPH) PMID:20182352|REF_RGD_ID:4892669 12399358 F5 coagulation factor V gene DOID:783 end stage renal disease ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:mutation: :1691G>A(human) PMID:19520684|REF_RGD_ID:6893522 12399358 F5 coagulation factor V gene DOID:8483 retinal artery occlusion no_association ISO RGD:1344593 D RGD:9068941 20200609 RGD PMID:12928685|REF_RGD_ID:1580362 12399358 F5 coagulation factor V gene DOID:869 cholesteatoma ISO RGD:1344593 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cholesteatoma 12399358 F5 coagulation factor V gene DOID:9000590 Dyspnea ISO RGD:1344593 D RGD:9068941 20200609 RGD PMID:16186475|REF_RGD_ID:4892656 12399358 F5 coagulation factor V gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1589758 D RGD:9068941 20200609 RGD PMID:17431769|REF_RGD_ID:7394781 12399358 F5 coagulation factor V gene DOID:9001722 Dysarthria ISO RGD:1344593 D RGD:9068941 20200609 RGD PMID:15026880|REF_RGD_ID:1580361 12399358 F5 coagulation factor V gene DOID:9001916 Fetal Death no_association ISO RGD:1344593 D RGD:9068941 20200609 RGD PMID:14706682|REF_RGD_ID:1580130 12399358 F5 coagulation factor V gene DOID:9002488 Peritoneal Fibrosis ISO RGD:1589758 D RGD:9068941 20200609 RGD PMID:19458308|REF_RGD_ID:7394780 12399358 F5 coagulation factor V gene DOID:9002928 Colonic Neoplasms ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25200834 12399358 F5 coagulation factor V gene DOID:9002928 Colonic Neoplasms ISO RGD:1589758 D RGD:9068941 20210115 RGD protein:increased expression:serum PMID:25200834|REF_RGD_ID:10449102 12399358 F5 coagulation factor V gene DOID:9003049 Femur Head Necrosis ISO RGD:1344593 D RGD:9068941 20200609 RGD associated with kidney transplantation;1691G>A(human) PMID:16968732|REF_RGD_ID:6902907 12399358 F5 coagulation factor V gene DOID:9003121 Thromboembolism ISO RGD:1344593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thromboembolism PMID:25741868|PMID:31064749|PMID:34355501 12399358 F5 coagulation factor V gene DOID:9003505 Venous Thromboembolism ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7500743|PMID:9149031 12399358 F5 coagulation factor V gene DOID:9003505 Venous Thromboembolism ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:mutation: :1691G>A (human) PMID:25665832|REF_RGD_ID:10449100 12399358 F5 coagulation factor V gene DOID:9003505 Venous Thromboembolism disease_progression ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:SNP: :rs6025(human) PMID:26245493|REF_RGD_ID:11536892 12399358 F5 coagulation factor V gene DOID:9003871 Venous Thrombosis ISO RGD:1344593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:19486170|PMID:25741868|PMID:31064749 12399358 F5 coagulation factor V gene DOID:9004082 Mesenteric Ischemia ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24282370 12399358 F5 coagulation factor V gene DOID:9004484 Sepsis severity ISO RGD:1344593 D RGD:9068941 20200609 RGD PMID:16235188|REF_RGD_ID:4892622 12399358 F5 coagulation factor V gene DOID:9004484 Sepsis treatment ISO RGD:1589758 D RGD:9068941 20200609 RGD PMID:12000738|REF_RGD_ID:1598921 12399358 F5 coagulation factor V gene DOID:9004590 Acute Liver Failure severity ISO RGD:1344593 D RGD:9068941 20200609 RGD protein:altered expression (human) PMID:1740285|REF_RGD_ID:14700653 12399358 F5 coagulation factor V gene DOID:9005359 Hereditary Thrombophilia ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9136971 12399358 F5 coagulation factor V gene DOID:9005930 Endotoxemia ISO RGD:1589758 D RGD:9068941 20200609 RGD PMID:11092686|REF_RGD_ID:7394782 12399358 F5 coagulation factor V gene DOID:9007096 Stroke ISO RGD:1344593 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: CEREBROVASCULAR ACCIDENT PMID:10328130|PMID:10348711|PMID:10477778|PMID:10494770|PMID:10507841|PMID:10666427|PMID:11018168|PMID:11110695|PMID:11686338|PMID:12070000|PMID:12421138|PMID:14996674|PMID:15534175|PMID:15638861|PMID:16493002|PMID:16931580|PMID:19652888|PMID:20051284|PMID:21116184|PMID:21774968|PMID:22704462|PMID:23382263|PMID:23677252|PMID:23900608|PMID:24033266|PMID:25741868|PMID:25977387|PMID:26251307|PMID:26990548|PMID:27797270|PMID:28492532|PMID:34355501|PMID:7586244|PMID:7803250|PMID:7877648|PMID:7910348|PMID:7911872|PMID:8049422|PMID:8164730|PMID:8164741|PMID:8566967|PMID:8616100|PMID:8822583|PMID:9245936|PMID:9339109|PMID:9372726|PMID:9415695|PMID:9454741|PMID:9459326|PMID:9518910|PMID:9734642 12399358 F5 coagulation factor V gene DOID:9007102 Myocardial Ischemia ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:mutation, haplotype: :1691G>A (human) PMID:19524925|REF_RGD_ID:4892673 12399358 F5 coagulation factor V gene DOID:9007367 Septic Peritonitis disease_progression ISO RGD:10557 D RGD:9068941 20200609 RGD PMID:25690763|REF_RGD_ID:11564333 12399358 F5 coagulation factor V gene DOID:9007479 Habitual Abortions ISO RGD:1344593 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: FETAL LOSS, RECURRENT, SUSCEPTIBILITY TO PMID:10328130|PMID:10348711|PMID:10477778|PMID:10494770|PMID:10507841|PMID:10666427|PMID:11018168|PMID:11110695|PMID:11686338|PMID:12070000|PMID:12421138|PMID:14996674|PMID:15534175|PMID:15638861|PMID:16493002|PMID:16931580|PMID:19652888|PMID:20051284|PMID:21116184|PMID:21774968|PMID:22704462|PMID:23382263|PMID:23677252|PMID:23900608|PMID:24033266|PMID:25741868|PMID:25977387|PMID:26251307|PMID:26990548|PMID:27797270|PMID:28492532|PMID:34355501|PMID:7586244|PMID:7803250|PMID:7877648|PMID:7910348|PMID:7911872|PMID:8049422|PMID:8164730|PMID:8164741|PMID:8566967|PMID:8616100|PMID:8822583|PMID:9245936|PMID:9339109|PMID:9372726|PMID:9415695|PMID:9454741|PMID:9459326|PMID:9518910|PMID:9734642 12399358 F5 coagulation factor V gene DOID:9007479 Habitual Abortions susceptibility ISO RGD:1344593 D RGD:7240710 20230517 OMIM 12399358 F5 coagulation factor V gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1344593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12399358 F5 coagulation factor V gene DOID:9008217 Hemorrhage ISO RGD:1344593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hemorrhage PMID:25741868|PMID:28492532|PMID:34355501 12399358 F5 coagulation factor V gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12399358 F5 coagulation factor V gene DOID:9477 pulmonary embolism ISO RGD:1344593 D RGD:9068941 20200609 RGD PMID:14996674|REF_RGD_ID:4892657 12399358 F5 coagulation factor V gene DOID:999 hypereosinophilic syndrome ISO RGD:1344593 D RGD:9068941 20200609 RGD PMID:15026880|REF_RGD_ID:1580361 12399388 CTTNBP2 cortactin binding protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1353355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12399388 CTTNBP2 cortactin binding protein 2 gene DOID:10283 prostate cancer ISO RGD:1353355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12399388 CTTNBP2 cortactin binding protein 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12399388 CTTNBP2 cortactin binding protein 2 gene DOID:630 genetic disease ISO RGD:1353355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399388 CTTNBP2 cortactin binding protein 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1353355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12399424 EVI2A ecotropic viral integration site 2A gene DOID:0111253 neurofibromatosis 1 ISO RGD:1350066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10587576|PMID:10607834|PMID:10631140|PMID:10712197|PMID:10980545|PMID:11857752|PMID:12566521|PMID:12807981|PMID:14722914|PMID:15257518|PMID:1568247|PMID:16199547|PMID:16283621|PMID:16786508|PMID:18183042|PMID:18196300|PMID:19221814|PMID:20513137|PMID:22241097|PMID:22807134|PMID:22837079|PMID:23244495|PMID:23532973|PMID:23913538|PMID:24033266|PMID:24232412|PMID:24357598|PMID:24958239|PMID:25205021|PMID:25480383|PMID:25541118|PMID:25631097|PMID:25640679|PMID:26178382|PMID:26189818|PMID:26458495|PMID:26635368|PMID:26740943|PMID:27322474|PMID:27629806|PMID:28492532|PMID:30530636|PMID:33877690|PMID:8116612|PMID:8931693|PMID:9643287 12399424 EVI2A ecotropic viral integration site 2A gene DOID:1969 cerebral palsy ISO RGD:1350066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12399424 EVI2A ecotropic viral integration site 2A gene DOID:630 genetic disease ISO RGD:1350066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399424 EVI2A ecotropic viral integration site 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350066 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 12399424 EVI2A ecotropic viral integration site 2A gene DOID:9008086 Developmental Disabilities ISO RGD:1350066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 12399434 DPPA3 developmental pluripotency associated 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1352490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12399434 DPPA3 developmental pluripotency associated 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1352490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12399434 DPPA3 developmental pluripotency associated 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1352490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12399434 DPPA3 developmental pluripotency associated 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1352490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12399434 DPPA3 developmental pluripotency associated 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1352490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12399434 DPPA3 developmental pluripotency associated 3 gene DOID:630 genetic disease ISO RGD:1352490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399434 DPPA3 developmental pluripotency associated 3 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1352490 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 12399434 DPPA3 developmental pluripotency associated 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1352490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12399461 MIR500 microRNA mir-500 gene DOID:12849 autistic disorder ISO RGD:1603439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12399461 MIR500 microRNA mir-500 gene DOID:9008579 Dent Disease 1 ISO RGD:1603439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrolithiasis 2 PMID:15052463|PMID:7874126|PMID:9328929 12399495 ATP5F1E ATP synthase F1 subunit epsilon gene DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 ISO RGD:1346801 D RGD:7240710 20180130 OMIM 12399495 ATP5F1E ATP synthase F1 subunit epsilon gene DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 ISO RGD:1346801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 3 PMID:20566710 12399495 ATP5F1E ATP synthase F1 subunit epsilon gene DOID:9000392 Fluoride Poisoning ISO RGD:621374 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart, mitochondrion (rat) PMID:21251948|REF_RGD_ID:5131501 12399500 WFDC11 WAP four-disulfide core domain 11 gene DOID:2234 focal epilepsy ISO RGD:1351256 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12399500 WFDC11 WAP four-disulfide core domain 11 gene DOID:630 genetic disease ISO RGD:1351256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399500 WFDC11 WAP four-disulfide core domain 11 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1351256 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12399565 OR51B5 olfactory receptor family 51 subfamily B member 5 gene DOID:13938 amenorrhea ISO RGD:1343909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12399565 OR51B5 olfactory receptor family 51 subfamily B member 5 gene DOID:630 genetic disease ISO RGD:1343909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399568 HNRNPAB heterogeneous nuclear ribonucleoprotein A/B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:730896 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12399568 HNRNPAB heterogeneous nuclear ribonucleoprotein A/B gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:730896 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12399568 HNRNPAB heterogeneous nuclear ribonucleoprotein A/B gene DOID:0112103 Sotos syndrome 1 ISO RGD:730896 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12399568 HNRNPAB heterogeneous nuclear ribonucleoprotein A/B gene DOID:224 transient cerebral ischemia treatment ISO RGD:69255 D RGD:9068941 20200609 RGD PMID:22366221|REF_RGD_ID:9999181 12399568 HNRNPAB heterogeneous nuclear ribonucleoprotein A/B gene DOID:630 genetic disease ISO RGD:730896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399568 HNRNPAB heterogeneous nuclear ribonucleoprotein A/B gene DOID:684 hepatocellular carcinoma severity ISO RGD:730896 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:24638979|REF_RGD_ID:10059322 12399568 HNRNPAB heterogeneous nuclear ribonucleoprotein A/B gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15538050 12399579 P2RX5 purinergic receptor P2X 5 gene DOID:3613 Canavan disease ISO RGD:737418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:28492532|PMID:7668285 12399579 P2RX5 purinergic receptor P2X 5 gene DOID:630 genetic disease ISO RGD:737418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399604 DDX17 DEAD-box helicase 17 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1312679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12399604 DDX17 DEAD-box helicase 17 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1312679 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12399604 DDX17 DEAD-box helicase 17 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1312679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12399604 DDX17 DEAD-box helicase 17 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1312679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12399621 TMEM176A transmembrane protein 176A gene DOID:2843 long QT syndrome ISO RGD:1602320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 12399621 TMEM176A transmembrane protein 176A gene DOID:630 genetic disease ISO RGD:1602320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399632 HEXB hexosaminidase subunit beta gene DOID:0080600 COVID-19 ISO RGD:1316898 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12399632 HEXB hexosaminidase subunit beta gene DOID:1059 intellectual disability ISO RGD:1316898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12399632 HEXB hexosaminidase subunit beta gene DOID:12377 spinal muscular atrophy ISO RGD:1316898 D RGD:9068941 20200609 RGD DNA,protein:point_mutations:CDS:compound heterozygosity for A619G/I207V and A1367C/Y456S PMID:1720305|REF_RGD_ID:1599424 12399632 HEXB hexosaminidase subunit beta gene DOID:3021 acute kidney failure ISO RGD:1316898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22005293 12399632 HEXB hexosaminidase subunit beta gene DOID:3323 Sandhoff disease IAGP D RGD:12801476 20220629 OMIA Gangliosidosis, GM2, type II (Sandhoff or variant 0) PMID:12227463|PMID:15884653|PMID:20695991|PMID:2958961|PMID:22766310|PMID:24161966|PMID:26535459|PMID:27036194|PMID:27499644|PMID:28833537|PMID:29106755 12399632 HEXB hexosaminidase subunit beta gene DOID:3323 Sandhoff disease ISO RGD:1316898 D RGD:7240710 20180130 OMIM 12399632 HEXB hexosaminidase subunit beta gene DOID:3323 Sandhoff disease ISO RGD:1316898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sandhoff disease | ClinVar Annotator: match by term: Sandhoff disease, chronic | ClinVar Annotator: match by term: Sandhoff-Jatzkewitz-Pilz disease PMID:10724|PMID:10982028|PMID:11329289|PMID:11897243|PMID:12027830|PMID:12166653|PMID:12706724|PMID:1386607|PMID:1390948|PMID:14724290|PMID:1487253|PMID:1531140|PMID:1532910|PMID:16169011|PMID:16199547|PMID:17015493|PMID:1720305|PMID:1723749|PMID:17237499|PMID:17576681|PMID:18758829|PMID:19595619|PMID:1975561|PMID:19763152|PMID:19823769|PMID:19898952|PMID:20307669|PMID:20798201|PMID:20926324|PMID:21150067|PMID:2139865|PMID:2147027|PMID:2147031|PMID:21483992|PMID:21567908|PMID:2170400|PMID:22191674|PMID:22406018|PMID:22789865|PMID:22848519|PMID:23010210|PMID:23046579|PMID:23113155|PMID:23127958|PMID:23158871|PMID:23418865|PMID:23759947|PMID:24022928|PMID:24033266|PMID:24082139|PMID:24263030|PMID:24356898|PMID:24461908|PMID:24503148|PMID:24613245|PMID:24915922|PMID:2522450|PMID:25525159|PMID:25640679|PMID:25736553|PMID:25741868|PMID:26582265|PMID:27021291|PMID:27142713|PMID:27435318|PMID:27629047|PMID:27682710|PMID:27697305|PMID:28281504|PMID:28476546|PMID:28492532|PMID:28895707|PMID:2921040|PMID:29448188|PMID:29451896|PMID:2948136|PMID:2973515|PMID:30065954|PMID:30075786|PMID:3014997|PMID:30548430|PMID:31319225|PMID:31367523|PMID:3156493|PMID:31589614|PMID:31852446|PMID:31974414|PMID:31995250|PMID:32036093|PMID:32860008|PMID:33176815|PMID:33407268|PMID:33673364|PMID:33742171|PMID:33824075|PMID:34210542|PMID:34226107|PMID:34856081|PMID:571983|PMID:7550345|PMID:7557963|PMID:7633435|PMID:8045559|PMID:8076944|PMID:8106452|PMID:8162015|PMID:8357844|PMID:8593535|PMID:868875|PMID:8950198|PMID:9401004|PMID:9475608|PMID:9536098|PMID:9562328|PMID:9694901 12399632 HEXB hexosaminidase subunit beta gene DOID:630 genetic disease ISO RGD:1316898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10724|PMID:17015493|PMID:19595619|PMID:20798201|PMID:2147031|PMID:2170400|PMID:22789865|PMID:24461908|PMID:24915922|PMID:2522450|PMID:25741868|PMID:27021291|PMID:28492532 12399632 HEXB hexosaminidase subunit beta gene DOID:9002051 Sandhoff Disease, Juvenile Type ISO RGD:1316898 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sandhoff disease, juvenile type PMID:10724|PMID:1386607|PMID:1531140|PMID:17015493|PMID:1720305|PMID:17237499|PMID:20798201|PMID:21150067|PMID:2147027|PMID:2147031|PMID:2170400|PMID:22789865|PMID:23127958|PMID:24263030|PMID:24915922|PMID:2522450|PMID:25736553|PMID:25741868|PMID:27021291|PMID:27142713|PMID:28492532|PMID:29448188|PMID:3014997|PMID:7557963|PMID:8106452 12399632 HEXB hexosaminidase subunit beta gene DOID:9003926 Sandhoff Disease, Infantile Type ISO RGD:1316898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sandhoff disease, infantile type PMID:10982028|PMID:18758829|PMID:19823769|PMID:21483992|PMID:23010210|PMID:23046579|PMID:24613245|PMID:25741868|PMID:26582265|PMID:28492532|PMID:29448188|PMID:7550345|PMID:7633435|PMID:8045559|PMID:8162015|PMID:9888387 12399632 HEXB hexosaminidase subunit beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12399632 HEXB hexosaminidase subunit beta gene DOID:9008015 Sandhoff Disease, Adult Type ISO RGD:1316898 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sandhoff disease, adult type PMID:12027830|PMID:12166653|PMID:1386607|PMID:1531140|PMID:17237499|PMID:17251047|PMID:20798201|PMID:20926324|PMID:21150067|PMID:2147027|PMID:22789865|PMID:23010210|PMID:23127958|PMID:23759947|PMID:24263030|PMID:25736553|PMID:25741868|PMID:28492532|PMID:29448188|PMID:2948136|PMID:571983|PMID:7557963|PMID:8357844|PMID:8950198|PMID:9562328 12399652 OR4N2 olfactory receptor family 4 subfamily N member 2 gene DOID:630 genetic disease ISO RGD:1351369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399656 TBXAS1 thromboxane A synthase 1 gene DOID:0060500 drug allergy ISO RGD:736923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21449675 12399656 TBXAS1 thromboxane A synthase 1 gene DOID:0060903 thrombosis ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:12384182|REF_RGD_ID:1601457 12399656 TBXAS1 thromboxane A synthase 1 gene DOID:0080690 RASopathy ISO RGD:736923 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12399656 TBXAS1 thromboxane A synthase 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:9700944|REF_RGD_ID:1601470 12399656 TBXAS1 thromboxane A synthase 1 gene DOID:0111047 platelet-type bleeding disorder 14 ISO RGD:736923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 14 PMID:25741868|PMID:28492532 12399656 TBXAS1 thromboxane A synthase 1 gene DOID:0112251 Ghosal hematodiaphyseal syndrome ISO RGD:736923 D RGD:7240710 20180130 OMIM 12399656 TBXAS1 thromboxane A synthase 1 gene DOID:0112251 Ghosal hematodiaphyseal syndrome ISO RGD:736923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ghosal hematodiaphyseal dysplasia | ClinVar Annotator: match by term: Ghosal hematodiaphyseal syndrome PMID:17203301|PMID:18264100|PMID:22735388|PMID:25741868|PMID:27156553|PMID:28492532|PMID:33185009|PMID:33595912|PMID:8702713 12399656 TBXAS1 thromboxane A synthase 1 gene DOID:10763 hypertension ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:16192456|REF_RGD_ID:1601439 12399656 TBXAS1 thromboxane A synthase 1 gene DOID:10763 hypertension ISO RGD:3826 D RGD:9068941 20200609 RGD associated with hyperinsulinism PMID:9370383|REF_RGD_ID:1601472 12399656 TBXAS1 thromboxane A synthase 1 gene DOID:10976 membranous glomerulonephritis ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:8982653|REF_RGD_ID:1601473 12399656 TBXAS1 thromboxane A synthase 1 gene DOID:11111 hydronephrosis ISO RGD:3826 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:9261862|REF_RGD_ID:634088 12399656 TBXAS1 thromboxane A synthase 1 gene DOID:2213 hemorrhagic disease ISO RGD:736923 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:28492532 12399656 TBXAS1 thromboxane A synthase 1 gene DOID:2349 arteriosclerosis ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:11331452|REF_RGD_ID:1601459 12399656 TBXAS1 thromboxane A synthase 1 gene DOID:2921 glomerulonephritis ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:10560941|REF_RGD_ID:1601461 12399656 TBXAS1 thromboxane A synthase 1 gene DOID:3454 brain infarction ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:14650360|REF_RGD_ID:1601455 12399656 TBXAS1 thromboxane A synthase 1 gene DOID:3526 cerebral infarction susceptibility ISO RGD:736923 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:19403042|REF_RGD_ID:11059536 12399656 TBXAS1 thromboxane A synthase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12399656 TBXAS1 thromboxane A synthase 1 gene DOID:630 genetic disease ISO RGD:736923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12399656 TBXAS1 thromboxane A synthase 1 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:3826 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver, Kupffer cell: PMID:9262373|REF_RGD_ID:11059607 12399656 TBXAS1 thromboxane A synthase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22919386 12399656 TBXAS1 thromboxane A synthase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:15000260|REF_RGD_ID:1601451 12399656 TBXAS1 thromboxane A synthase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3826 D RGD:9068941 20200609 RGD associated with Cholestasis, Extrahepatic PMID:8680115|REF_RGD_ID:1601475 12399656 TBXAS1 thromboxane A synthase 1 gene DOID:9005930 Endotoxemia ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:15647606|REF_RGD_ID:1601450 12399656 TBXAS1 thromboxane A synthase 1 gene DOID:9477 pulmonary embolism ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:12639842|REF_RGD_ID:1601456 12399680 MED25 mediator complex subunit 25 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1347126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:16199547|PMID:17576681|PMID:25488817|PMID:25527630|PMID:25741868|PMID:26257172|PMID:28492532|PMID:30039206|PMID:30800049|PMID:9536098 12399680 MED25 mediator complex subunit 25 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1347126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:16199547|PMID:17576681|PMID:25488817|PMID:25527630|PMID:25741868|PMID:26257172|PMID:28170084|PMID:28492532|PMID:30039206|PMID:30800049|PMID:31602195|PMID:32324310|PMID:32371413|PMID:32376792|PMID:9536098 12399680 MED25 mediator complex subunit 25 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1347126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12399680 MED25 mediator complex subunit 25 gene DOID:0110179 Charcot-Marie-Tooth disease type 2B2 ISO RGD:1347126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2 PMID:25488817|PMID:25527630|PMID:25741868|PMID:28492532|PMID:30039206|PMID:32324310|PMID:32371413 12399680 MED25 mediator complex subunit 25 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1347126 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25488817|PMID:25741868|PMID:26257172|PMID:28492532|PMID:30039206|PMID:32376792 12399680 MED25 mediator complex subunit 25 gene DOID:1389 polyneuropathy ISO RGD:1347126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:25741868|PMID:28492532 12399680 MED25 mediator complex subunit 25 gene DOID:630 genetic disease ISO RGD:1347126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:32376792|PMID:9536098 12399680 MED25 mediator complex subunit 25 gene DOID:9001276 Failure to Thrive ISO RGD:1347126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:28492532 12399680 MED25 mediator complex subunit 25 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12399680 MED25 mediator complex subunit 25 gene DOID:9005442 Basel-Vanagaite-Smirin-Yosef syndrome ISO RGD:1347126 D RGD:7240710 20180130 OMIM 12399680 MED25 mediator complex subunit 25 gene DOID:9005442 Basel-Vanagaite-Smirin-Yosef syndrome ISO RGD:1347126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome PMID:25488817|PMID:25741868|PMID:25792360|PMID:28170084|PMID:28492532|PMID:30039206|PMID:32324310|PMID:32376792 12399707 CEACAM28 carcinoembryonic antigen-related cell adhesion molecule 28 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1351932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12399707 CEACAM28 carcinoembryonic antigen-related cell adhesion molecule 28 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1351932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12399707 CEACAM28 carcinoembryonic antigen-related cell adhesion molecule 28 gene DOID:2340 craniosynostosis ISO RGD:1351932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12399707 CEACAM28 carcinoembryonic antigen-related cell adhesion molecule 28 gene DOID:5419 schizophrenia ISO RGD:1351932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12399707 CEACAM28 carcinoembryonic antigen-related cell adhesion molecule 28 gene DOID:630 genetic disease ISO RGD:1351932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399707 CEACAM28 carcinoembryonic antigen-related cell adhesion molecule 28 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1351932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12399707 CEACAM28 carcinoembryonic antigen-related cell adhesion molecule 28 gene DOID:9003281 Spontaneous Abortions ISO RGD:1351932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12399707 CEACAM28 carcinoembryonic antigen-related cell adhesion molecule 28 gene DOID:9269 maple syrup urine disease ISO RGD:1351932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12399725 SYCE2 synaptonemal complex central element protein 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1603348 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12399725 SYCE2 synaptonemal complex central element protein 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1603348 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12399725 SYCE2 synaptonemal complex central element protein 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1603348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:10960496|PMID:11058907|PMID:11073722|PMID:11854167|PMID:12948740|PMID:15248096|PMID:15505393|PMID:16602100|PMID:17188916|PMID:17478444|PMID:17576681|PMID:18683078|PMID:18926513|PMID:19486177|PMID:1951469|PMID:19630565|PMID:21031586|PMID:21176883|PMID:22728054|PMID:23104440|PMID:24973495|PMID:25256449|PMID:25735478|PMID:25741868|PMID:27250579|PMID:27672653|PMID:28302372|PMID:28438223|PMID:28492532|PMID:29201125|PMID:29665094|PMID:31536184|PMID:31952437|PMID:32005694|PMID:34258142|PMID:34344405|PMID:8900227|PMID:8900228|PMID:9536098|PMID:9600243|PMID:9711871 12399725 SYCE2 synaptonemal complex central element protein 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1603348 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12399725 SYCE2 synaptonemal complex central element protein 2 gene DOID:630 genetic disease ISO RGD:1603348 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12399725 SYCE2 synaptonemal complex central element protein 2 gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1603348 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:28492532 12399725 SYCE2 synaptonemal complex central element protein 2 gene DOID:9009132 Glutaric Aciduria ISO RGD:1603348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric acidemia PMID:25741868 12399750 DTX1 deltex E3 ubiquitin ligase 1 gene DOID:3181 oligodendroglioma ISO RGD:1353899 D RGD:9068941 20211217 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 12399750 DTX1 deltex E3 ubiquitin ligase 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1353899 D RGD:9068941 20211217 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 12399750 DTX1 deltex E3 ubiquitin ligase 1 gene DOID:630 genetic disease ISO RGD:1353899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399760 LHX5 LIM homeobox 5 gene DOID:630 genetic disease ISO RGD:732692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399769 PRKAG1 protein kinase AMP-activated non-catalytic subunit gamma 1 gene DOID:630 genetic disease ISO RGD:734389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399794 VPS13C vacuolar protein sorting 13 homolog C gene DOID:0060896 Parkinson's disease 23 ISO RGD:1348377 D RGD:7240710 20190315 OMIM 12399794 VPS13C vacuolar protein sorting 13 homolog C gene DOID:0060896 Parkinson's disease 23 ISO RGD:1348377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 23 PMID:25741868|PMID:26942284|PMID:28492532 12399794 VPS13C vacuolar protein sorting 13 homolog C gene DOID:10652 Alzheimer's disease ISO RGD:1348377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early onset PMID:25741868 12399794 VPS13C vacuolar protein sorting 13 homolog C gene DOID:14330 Parkinson's disease ISO RGD:1348377 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Parkinson disease PMID:26942284|PMID:27352967 12399794 VPS13C vacuolar protein sorting 13 homolog C gene DOID:2717 Bloom syndrome ISO RGD:1348377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12399794 VPS13C vacuolar protein sorting 13 homolog C gene DOID:630 genetic disease ISO RGD:1348377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12399794 VPS13C vacuolar protein sorting 13 homolog C gene DOID:9255 frontotemporal dementia ISO RGD:1348377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868|PMID:28492532|PMID:29770609|PMID:31836585 12399794 VPS13C vacuolar protein sorting 13 homolog C gene DOID:9256 colorectal cancer ISO RGD:1348377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12399884 TNK2 tyrosine kinase non receptor 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346409 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:25741868 12399884 TNK2 tyrosine kinase non receptor 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1346409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12399884 TNK2 tyrosine kinase non receptor 2 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1346409 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 12399884 TNK2 tyrosine kinase non receptor 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346409 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868 12399884 TNK2 tyrosine kinase non receptor 2 gene DOID:14330 Parkinson's disease ISO RGD:1346409 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Parkinson disease PMID:23686771|PMID:25741868|PMID:26595808|PMID:28492532 12399884 TNK2 tyrosine kinase non receptor 2 gene DOID:1826 epilepsy ISO RGD:1346409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile epilepsy PMID:23686771|PMID:25741868|PMID:26595808|PMID:28492532 12399884 TNK2 tyrosine kinase non receptor 2 gene DOID:630 genetic disease ISO RGD:1346409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12399884 TNK2 tyrosine kinase non receptor 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1346409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 12399884 TNK2 tyrosine kinase non receptor 2 gene DOID:9004367 Autosomal Recessive Infantile Epilepsy ISO RGD:1346409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive infantile epilepsy PMID:23686771|PMID:25741868|PMID:26595808|PMID:28492532 12399884 TNK2 tyrosine kinase non receptor 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1346409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12399933 HOMER1 homer scaffold protein 1 gene DOID:630 genetic disease ISO RGD:1354218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399933 HOMER1 homer scaffold protein 1 gene DOID:9003126 Hallucinations ISO RGD:1354218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24126708 12399933 HOMER1 homer scaffold protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12399933 HOMER1 homer scaffold protein 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1354218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16160706|PMID:16314758 12399933 HOMER1 homer scaffold protein 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1354218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24126708 12399933 HOMER1 homer scaffold protein 1 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:1354218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24126708 12399946 ATXN2L ataxin 2 like gene DOID:0050692 Brody myopathy ISO RGD:1604832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brody myopathy PMID:17882224|PMID:24707176|PMID:28492532 12399946 ATXN2L ataxin 2 like gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1604832 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 12399946 ATXN2L ataxin 2 like gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 12399946 ATXN2L ataxin 2 like gene DOID:5419 schizophrenia ISO RGD:1604832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12399946 ATXN2L ataxin 2 like gene DOID:630 genetic disease ISO RGD:1604832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12399946 ATXN2L ataxin 2 like gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1604832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 12399946 ATXN2L ataxin 2 like gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1604832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12399989 NTHL1 nth like DNA glycosylase 1 gene DOID:0050424 familial adenomatous polyposis ISO RGD:1319554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25938944 12399989 NTHL1 nth like DNA glycosylase 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1319554 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29432982|PMID:29932062|PMID:32917966 12399989 NTHL1 nth like DNA glycosylase 1 gene DOID:0080411 familial adenomatous polyposis 3 ISO RGD:1319554 D RGD:7240710 20180130 OMIM 12399989 NTHL1 nth like DNA glycosylase 1 gene DOID:0080411 familial adenomatous polyposis 3 ISO RGD:1319554 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 3 PMID:12840008|PMID:16199547|PMID:18515411|PMID:20054297|PMID:23852950|PMID:25741868|PMID:25938944|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27329137|PMID:27713038|PMID:27720914|PMID:28492532|PMID:28912133|PMID:29625052|PMID:29641532|PMID:29909963|PMID:30248171|PMID:30552997|PMID:30584090|PMID:30753826|PMID:30833958|PMID:31220976|PMID:31227763|PMID:31263571|PMID:31285513|PMID:31360874|PMID:31942411|PMID:32300177|PMID:32581083|PMID:32704608|PMID:32860789|PMID:32906206|PMID:33087284|PMID:33193653|PMID:33332384|PMID:33454955|PMID:33980861 12399989 NTHL1 nth like DNA glycosylase 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1319554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12399989 NTHL1 nth like DNA glycosylase 1 gene DOID:1826 epilepsy ISO RGD:1319554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12399989 NTHL1 nth like DNA glycosylase 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12399989 NTHL1 nth like DNA glycosylase 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:1319554 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lymphangiomyomatosis PMID:25741868|PMID:28492532 12399989 NTHL1 nth like DNA glycosylase 1 gene DOID:9006741 Acute Hepatitis ISO RGD:1309289 D RGD:9068941 20200609 RGD PMID:20033472|REF_RGD_ID:11568659 12399989 NTHL1 nth like DNA glycosylase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12144783|PMID:16199547|PMID:17576681|PMID:18515411|PMID:20054297|PMID:21167187|PMID:25741868|PMID:25938944|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27329137|PMID:27713038|PMID:27720914|PMID:28492532|PMID:28912133|PMID:29909963|PMID:30552997|PMID:30753826|PMID:31227763|PMID:31285513|PMID:31360874|PMID:31942411|PMID:33193653|PMID:9536098 12399989 NTHL1 nth like DNA glycosylase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319554 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12840008|PMID:16199547|PMID:17576681|PMID:18515411|PMID:20054297|PMID:21167187|PMID:23852950|PMID:25741868|PMID:25938944|PMID:25995449|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27329137|PMID:27713038|PMID:27720914|PMID:28492532|PMID:28912133|PMID:29522130|PMID:29625052|PMID:29641532|PMID:29909963|PMID:30248171|PMID:30267214|PMID:30552997|PMID:30584090|PMID:30753826|PMID:30833958|PMID:31220976|PMID:31227763|PMID:31263571|PMID:31285513|PMID:31360874|PMID:31942411|PMID:32091409|PMID:32300177|PMID:32581083|PMID:32704608|PMID:32860789|PMID:32906206|PMID:33087284|PMID:33193653|PMID:33332384|PMID:33454955|PMID:33980861|PMID:9536098 12399989 NTHL1 nth like DNA glycosylase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319554 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12840008|PMID:16199547|PMID:17576681|PMID:18515411|PMID:20054297|PMID:21167187|PMID:23852950|PMID:25741868|PMID:25938944|PMID:25995449|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27329137|PMID:27713038|PMID:27720914|PMID:28492532|PMID:28912133|PMID:29522130|PMID:29625052|PMID:29641532|PMID:29909963|PMID:30248171|PMID:30267214|PMID:30552997|PMID:30584090|PMID:30753826|PMID:30833958|PMID:31220976|PMID:31227763|PMID:31263571|PMID:31285513|PMID:31360874|PMID:31942411|PMID:32091409|PMID:32300177|PMID:32581083|PMID:32704608|PMID:32860789|PMID:32906206|PMID:33087284|PMID:33193653|PMID:33332384|PMID:33454955|PMID:33980861|PMID:35128723|PMID:9536098|PMID:9705289 12399989 NTHL1 nth like DNA glycosylase 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1319554 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:18515411|PMID:25741868|PMID:25938944|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27713038|PMID:27720914|PMID:28492532|PMID:29909963|PMID:30248171|PMID:30753826|PMID:33193653 12399998 CACNG7 calcium voltage-gated channel auxiliary subunit gamma 7 gene DOID:1059 intellectual disability ISO RGD:732586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 12399998 CACNG7 calcium voltage-gated channel auxiliary subunit gamma 7 gene DOID:630 genetic disease ISO RGD:732586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400008 NXPH3 neurexophilin 3 gene DOID:630 genetic disease ISO RGD:735663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400018 OR52I1 olfactory receptor family 52 subfamily I member 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1352778 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12400018 OR52I1 olfactory receptor family 52 subfamily I member 1 gene DOID:630 genetic disease ISO RGD:1352778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400023 GPR34 G protein-coupled receptor 34 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12400023 GPR34 G protein-coupled receptor 34 gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1349710 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 12400023 GPR34 G protein-coupled receptor 34 gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1349710 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:19165920|PMID:20029458|PMID:21735175|PMID:21954287|PMID:22452838|PMID:22709267|PMID:23901204|PMID:28492532 12400023 GPR34 G protein-coupled receptor 34 gene DOID:12849 autistic disorder ISO RGD:1349710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12400023 GPR34 G protein-coupled receptor 34 gene DOID:5119 ovarian cyst ISO RGD:1349710 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12400023 GPR34 G protein-coupled receptor 34 gene DOID:630 genetic disease ISO RGD:1349710 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400023 GPR34 G protein-coupled receptor 34 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12400030 GTPBP10 GTP binding protein 10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:36947605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12400030 GTPBP10 GTP binding protein 10 gene DOID:630 genetic disease ISO RGD:36947605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400045 FSCB fibrous sheath CABYR binding protein gene DOID:13636 Fanconi anemia ISO RGD:1343697 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29895858|PMID:30075111 12400045 FSCB fibrous sheath CABYR binding protein gene DOID:630 genetic disease ISO RGD:1343697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400045 FSCB fibrous sheath CABYR binding protein gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343697 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12400092 GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1351614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12400092 GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1351614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12400092 GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1351614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12400092 GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 gene DOID:0080600 COVID-19 ISO RGD:1351614 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12400092 GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1351614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12400092 GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1351614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12400092 GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 gene DOID:3652 Leigh disease ISO RGD:1351614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12400092 GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 gene DOID:630 genetic disease ISO RGD:1351614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400107 CNGA1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:730948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:24033266|PMID:24265693|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28981474|PMID:30718709|PMID:7479749 12400107 CNGA1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:0110377 retinitis pigmentosa 49 IAGP D RGD:12801476 20210603 OMIA Progressive retinal atrophy, CNGA1-related PMID:26202106 12400107 CNGA1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:0110377 retinitis pigmentosa 49 ISO RGD:730948 D RGD:7240710 20180130 OMIM 12400107 CNGA1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:0110377 retinitis pigmentosa 49 ISO RGD:730948 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 49 PMID:12362048|PMID:15570217|PMID:18310263|PMID:23462753|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25326637|PMID:25356976|PMID:25611614|PMID:25741868|PMID:26306921|PMID:26496393|PMID:26802146|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29785639|PMID:30337596|PMID:30543658|PMID:30652268|PMID:30718709|PMID:36115851|PMID:7479749 12400107 CNGA1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:10283 prostate cancer ISO RGD:730948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:28492532 12400107 CNGA1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:10584 retinitis pigmentosa ISO RGD:730948 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12362048|PMID:16199547|PMID:18310263|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25326637|PMID:25356976|PMID:25611614|PMID:25741868|PMID:26306921|PMID:26496393|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29785639|PMID:30337596|PMID:30718709|PMID:31456290|PMID:7479749 12400107 CNGA1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:10584 retinitis pigmentosa ISO RGD:730948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12362048|PMID:16199547|PMID:18310263|PMID:23462753|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25356976|PMID:25611614|PMID:25741868|PMID:26306921|PMID:26496393|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29785639|PMID:30337596|PMID:30718709|PMID:31456290|PMID:32037395|PMID:33090715|PMID:33946315|PMID:7479749 12400107 CNGA1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:4448 macular degeneration ISO RGD:730948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:24033266|PMID:24265693|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28981474|PMID:30718709|PMID:7479749 12400107 CNGA1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:630 genetic disease ISO RGD:730948 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12400107 CNGA1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:8501 fundus dystrophy ISO RGD:730948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12362048|PMID:23462753|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25326637|PMID:25611614|PMID:25741868|PMID:26306921|PMID:26496393|PMID:26802146|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28981474|PMID:30337596|PMID:30543658|PMID:30718709|PMID:32037395|PMID:7479749 12400133 MDH1 malate dehydrogenase 1 gene DOID:0112222 developmental and epileptic encephalopathy 88 ISO RGD:732327 D RGD:7240710 20200812 OMIM 12400133 MDH1 malate dehydrogenase 1 gene DOID:0112222 developmental and epileptic encephalopathy 88 ISO RGD:732327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 88 PMID:31538237 12400133 MDH1 malate dehydrogenase 1 gene DOID:10763 hypertension ISO RGD:732327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 12400133 MDH1 malate dehydrogenase 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:732327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12400133 MDH1 malate dehydrogenase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12400133 MDH1 malate dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:732327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400133 MDH1 malate dehydrogenase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12400133 MDH1 malate dehydrogenase 1 gene DOID:9004590 Acute Liver Failure ISO RGD:732327 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 12400133 MDH1 malate dehydrogenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 12400133 MDH1 malate dehydrogenase 1 gene DOID:9008691 Liver Injury treatment ISO RGD:3072 D RGD:9068941 20200609 RGD PMID:24919044|REF_RGD_ID:13703104 12400151 VPS52 VPS52 subunit of GARP complex gene DOID:0050553 JMP syndrome ISO RGD:1604402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12400151 VPS52 VPS52 subunit of GARP complex gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1604402 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 12400151 VPS52 VPS52 subunit of GARP complex gene DOID:630 genetic disease ISO RGD:1604402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400151 VPS52 VPS52 subunit of GARP complex gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 12400180 LOC476396 sialic acid-binding Ig-like lectin 5 gene DOID:630 genetic disease ISO RGD:1313458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400180 LOC476396 sialic acid-binding Ig-like lectin 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12400196 RESF1 retroelement silencing factor 1 gene DOID:630 genetic disease ISO RGD:1605655 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400213 STX12 syntaxin 12 gene DOID:630 genetic disease ISO RGD:737034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400226 SLC25A6 solute carrier family 25 member 6 gene DOID:12849 autistic disorder ISO RGD:1349745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12400234 CYRIB CYFIP related Rac1 interactor B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12400234 CYRIB CYFIP related Rac1 interactor B gene DOID:9775 diastolic heart failure ISO RGD:1354500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12400261 TFAP2E transcription factor AP-2 epsilon gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1352189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12400261 TFAP2E transcription factor AP-2 epsilon gene DOID:630 genetic disease ISO RGD:1352189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400269 ASCL2 achaete-scute family bHLH transcription factor 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12400269 ASCL2 achaete-scute family bHLH transcription factor 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:735625 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12400269 ASCL2 achaete-scute family bHLH transcription factor 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12400269 ASCL2 achaete-scute family bHLH transcription factor 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12400269 ASCL2 achaete-scute family bHLH transcription factor 2 gene DOID:630 genetic disease ISO RGD:735625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400269 ASCL2 achaete-scute family bHLH transcription factor 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:735625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12400269 ASCL2 achaete-scute family bHLH transcription factor 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:735625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12400274 SFMBT1 Scm like with four mbt domains 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1343140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12400321 SMOX spermine oxidase gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1314443 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12400321 SMOX spermine oxidase gene DOID:3525 middle cerebral artery infarction ISO RGD:1314443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30576531 12400321 SMOX spermine oxidase gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1314443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12400321 SMOX spermine oxidase gene DOID:630 genetic disease ISO RGD:1314443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400321 SMOX spermine oxidase gene DOID:9007096 Stroke ISO RGD:1314443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16269634 12400341 ZNRF3 zinc and ring finger 3 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1342950 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 12400341 ZNRF3 zinc and ring finger 3 gene DOID:1793 pancreatic cancer ISO RGD:1342950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25086665|PMID:26098869 12400341 ZNRF3 zinc and ring finger 3 gene DOID:3948 adrenocortical carcinoma ISO RGD:1342950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747642 12400341 ZNRF3 zinc and ring finger 3 gene DOID:630 genetic disease ISO RGD:1342950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400341 ZNRF3 zinc and ring finger 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1342950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:736644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:736644 D RGD:9068941 20211029 RGD DNA:SNP:exon 9: p.G388R (human) PMID:20127014|REF_RGD_ID:150520164 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:736644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:736644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:0112103 Sotos syndrome 1 ISO RGD:736644 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:10283 prostate cancer disease_progression ISO RGD:736644 D RGD:9068941 20211008 RGD DNA:SNP:exon 9: 288G>A, p.G388R (human) PMID:15448004|REF_RGD_ID:150429969 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:10534 stomach cancer ameliorates ISO RGD:736644 D RGD:9068941 20211029 RGD human cells in mouse model PMID:26432329|REF_RGD_ID:150520156 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:10534 stomach cancer severity ISO RGD:736644 D RGD:9068941 20211022 RGD DNA:SNP:exon 9: p.G388R (human) PMID:20844967|REF_RGD_ID:150520039 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:10534 stomach cancer severity ISO RGD:736644 D RGD:9068941 20211022 RGD protein:increased expression:stomach, cytoplasm (human) PMID:21567388|REF_RGD_ID:150520025 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:10534 stomach cancer treatment ISO RGD:736644 D RGD:9068941 20211029 RGD PMID:32973082|REF_RGD_ID:150520068 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:11394 adult respiratory distress syndrome ISO RGD:736644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:219 colon cancer treatment ISO RGD:736644 D RGD:9068941 20211029 RGD human cells in mouse model PMID:17599042|REF_RGD_ID:150520062 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:3247 rhabdomyosarcoma ISO RGD:736644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:19809159|PMID:24124571 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:3748 esophagus squamous cell carcinoma treatment ISO RGD:736644 D RGD:9068941 20211022 RGD PMID:25989802|REF_RGD_ID:150520041 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:736644 D RGD:9068941 20211008 RGD human cells in mouse model PMID:29402970|REF_RGD_ID:150429984 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:736644 D RGD:9068941 20211008 RGD mRNA, protein:increased expression:lung (human) PMID:26045670|REF_RGD_ID:150429970 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:736644 D RGD:9068941 20211008 RGD DNA:SNP:exon 9: p.G3888R (rs351855) (human) PMID:23524567|REF_RGD_ID:150429982 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:736644 D RGD:9068941 20211008 RGD DNA:SNP:exon 9: p.G388R (human) PMID:16061909|REF_RGD_ID:150429976 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:736644 D RGD:9068941 20211008 RGD human cells in mouse model PMID:29402970|REF_RGD_ID:150429984 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:736644 D RGD:9068941 20220520 RGD DNA:SNP:exon 9: p.G388R (rs351855)(human) PMID:19296538|REF_RGD_ID:150429981 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:5082 liver cirrhosis ISO RGD:736644 D RGD:9068941 20211022 RGD associated with hepatocellular carcinoma; DNA:SNP:cds: p.G388R (rs351855) (human) PMID:25860955|REF_RGD_ID:11057080 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:5520 head and neck squamous cell carcinoma severity ISO RGD:736644 D RGD:9068941 20211022 RGD DNA:SNP:exon 9: p.G388R (human) PMID:17084840|REF_RGD_ID:150520023 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:630 genetic disease ISO RGD:736644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:736644 D RGD:9068941 20211029 RGD PMID:32677805|REF_RGD_ID:150520166 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:8567 Hodgkin's lymphoma ISO RGD:736644 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Classic Hodgkin lymphoma PMID:32934698 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15448004 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cancer progression and tumor cell motility PMID:11830541|PMID:25741868|PMID:26675719|PMID:33116287 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:736644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:736644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:9008939 Breast Neoplasms ISO RGD:736644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:19946327 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:9256 colorectal cancer ISO RGD:736644 D RGD:9068941 20211029 RGD protein:increased expression:colorectum (human) PMID:24503538|REF_RGD_ID:150520155 12400367 FGFR4 fibroblast growth factor receptor 4 gene DOID:9261 nasopharynx carcinoma severity ISO RGD:736644 D RGD:9068941 20211029 RGD protein:increased expression:nasopharynx (human) PMID:26535066|REF_RGD_ID:150520063 12400400 TEX26 testis expressed 26 gene DOID:630 genetic disease ISO RGD:1603922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400426 LOC608483 coiled-coil domain-containing protein 74B gene DOID:630 genetic disease ISO RGD:1604765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400437 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1605947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 PMID:25741868 12400437 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:0111485 combined oxidative phosphorylation deficiency 24 ISO RGD:1605947 D RGD:7240710 20181226 OMIM 12400437 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:0111485 combined oxidative phosphorylation deficiency 24 ISO RGD:1605947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 24 PMID:22237560|PMID:25385316|PMID:25629079|PMID:25741868|PMID:25807530|PMID:26402642|PMID:26467025|PMID:28077841|PMID:28492532|PMID:30327238|PMID:31665838|PMID:34374940|PMID:35558980 12400437 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:0111641 autosomal recessive nonsyndromic deafness 94 ISO RGD:1605947 D RGD:7240710 20190626 OMIM 12400437 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:0111641 autosomal recessive nonsyndromic deafness 94 ISO RGD:1605947 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 94 | ClinVar Annotator: match by term: Deafness, autosomal recessive 94 PMID:25741868|PMID:25807530|PMID:28492532 12400437 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:10003 sensorineural hearing loss ISO RGD:1605947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 12400437 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:1059 intellectual disability ISO RGD:1605947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12400437 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1605947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12400437 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:700 mitochondrial metabolism disease ISO RGD:1605947 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial disease 12400467 USP22 ubiquitin specific peptidase 22 gene DOID:630 genetic disease ISO RGD:1321210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400482 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:1289 neurodegenerative disease ISO RGD:62199 D RGD:9068941 20200609 RGD DNA:deletion:exon: exons 5,6; males PMID:20467332|REF_RGD_ID:6482198 12400482 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:13580 cholestasis ISO RGD:1352469 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17256725 12400482 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:409 liver disease ISO RGD:62199 D RGD:9068941 20200609 RGD PMID:21815813|REF_RGD_ID:6480869 12400482 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:630 genetic disease ISO RGD:1352469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400482 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1352469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 12400482 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:62199 D RGD:9068941 20200609 RGD DNA:deletion:exon:exons 5 and 6, estrogen dependent PMID:20679224|REF_RGD_ID:6482195 12400482 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:9002457 Experimental Arthritis ISO RGD:62199 D RGD:9068941 20200609 RGD PMID:21859686|REF_RGD_ID:6480864 12400482 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:62199 D RGD:9068941 20200609 RGD PMID:21266776|REF_RGD_ID:6480877 12400482 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:9005369 Hepatomegaly ISO RGD:1352469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12400482 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352469 D RGD:9068941 20200609 RGD PMID:20939869|REF_RGD_ID:13506790 12400482 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:9970 obesity ISO RGD:1352469 D RGD:9068941 20200609 RGD PMID:20939869|REF_RGD_ID:13506790 12400482 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:9970 obesity ISO RGD:1352469 D RGD:9068941 20200609 RGD DNA:polymorphism:multiple PMID:17108812|REF_RGD_ID:1626248 12400482 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:9970 obesity disease_progression ISO RGD:61906 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25612518|REF_RGD_ID:15045599 12400498 GATD1 glutamine amidotransferase class 1 domain containing 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12400498 GATD1 glutamine amidotransferase class 1 domain containing 1 gene DOID:0050729 neutral lipid storage disease ISO RGD:1604948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 12400498 GATD1 glutamine amidotransferase class 1 domain containing 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1604948 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12400498 GATD1 glutamine amidotransferase class 1 domain containing 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1604948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12400498 GATD1 glutamine amidotransferase class 1 domain containing 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12400498 GATD1 glutamine amidotransferase class 1 domain containing 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12400498 GATD1 glutamine amidotransferase class 1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1604948 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400498 GATD1 glutamine amidotransferase class 1 domain containing 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1604948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12400500 PROSER3 proline and serine rich 3 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1603570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12400500 PROSER3 proline and serine rich 3 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12400500 PROSER3 proline and serine rich 3 gene DOID:543 dystonia ISO RGD:1603570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12400500 PROSER3 proline and serine rich 3 gene DOID:630 genetic disease ISO RGD:1603570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400550 APH1A aph-1 homolog A, gamma-secretase subunit gene DOID:0111940 immunodeficiency 42 ISO RGD:1349695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12400550 APH1A aph-1 homolog A, gamma-secretase subunit gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1349695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12400550 APH1A aph-1 homolog A, gamma-secretase subunit gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1349695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12400550 APH1A aph-1 homolog A, gamma-secretase subunit gene DOID:10652 Alzheimer's disease treatment ISO RGD:1550286 D RGD:9068941 20200609 RGD PMID:28588301|PMID:29926633|REF_RGD_ID:13703122|REF_RGD_ID:13703123 12400550 APH1A aph-1 homolog A, gamma-secretase subunit gene DOID:1540 parathyroid carcinoma ISO RGD:1349695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12400550 APH1A aph-1 homolog A, gamma-secretase subunit gene DOID:5812 MHC class II deficiency ISO RGD:1349695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12400550 APH1A aph-1 homolog A, gamma-secretase subunit gene DOID:630 genetic disease ISO RGD:1349695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400550 APH1A aph-1 homolog A, gamma-secretase subunit gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12400561 MIR128-1 microRNA mir-128-1 gene DOID:0060591 WHIM syndrome 1 ISO RGD:1343624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 12400561 MIR128-1 microRNA mir-128-1 gene DOID:10487 Hirschsprung's disease ISO RGD:1343624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29429387 12400600 LOC102156375 probable cystatin-15 gene DOID:630 genetic disease ISO RGD:1606729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:0060058 lymphoma ISO RGD:736498 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19075289 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:0060180 colitis ISO RGD:732089 D RGD:9068941 20200609 RGD PMID:20833794|REF_RGD_ID:6483551 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:10652 Alzheimer's disease ISO RGD:732089 D RGD:9068941 20200609 RGD PMID:22044482|REF_RGD_ID:6483525 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:11476 osteoporosis treatment ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:16442794|REF_RGD_ID:10043381 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:12387 nephrogenic diabetes insipidus treatment ISO RGD:732089 D RGD:9068941 20200609 RGD PMID:19729836|REF_RGD_ID:10003043 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:12510 retinal ischemia ISO RGD:628641 D RGD:9068941 20200609 RGD protein:decreased expression:retina (rat) PMID:12821538|REF_RGD_ID:9850261 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:732089 D RGD:9068941 20220825 MouseDO 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:13832 patent ductus arteriosus ISO RGD:732089 D RGD:9068941 20200609 RGD PMID:9600059|REF_RGD_ID:10003086 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:1679 cystitis ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:20860016|REF_RGD_ID:5147913 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:1876 sexual dysfunction ISO RGD:736498 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18726914 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:224 transient cerebral ischemia ISO RGD:628641 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:16437207|REF_RGD_ID:10043375 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:2349 arteriosclerosis ISO RGD:736498 D RGD:9068941 20200609 RGD PMID:16020747|REF_RGD_ID:1581284 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:289 endometriosis ISO RGD:736498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19407222 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:3021 acute kidney failure treatment ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:16871242|REF_RGD_ID:10003092 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:3627 aortic aneurysm ISO RGD:732089 D RGD:9068941 20200609 RGD PMID:22570740|REF_RGD_ID:6483518 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:3627 aortic aneurysm ISO RGD:736498 D RGD:9068941 20200609 RGD PMID:22570740|REF_RGD_ID:6483518 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:5119 ovarian cyst ISO RGD:736498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:630 genetic disease ISO RGD:736498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:7147 ankylosing spondylitis ISO RGD:736498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743469 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:7147 ankylosing spondylitis ISO RGD:736498 D RGD:9068941 20200609 RGD PMID:21743469|REF_RGD_ID:6483530 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:783 end stage renal disease treatment ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:16871242|REF_RGD_ID:10003092 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:820 myocarditis resistance ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:21383594|REF_RGD_ID:6483535 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:8577 ulcerative colitis ISO RGD:736498 D RGD:9068941 20200609 RGD PMID:21818367|REF_RGD_ID:6483532 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:9000099 Experimental Colitis treatment ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:12100473|REF_RGD_ID:727388 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:9001048 Nociceptive Pain ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:21371033|REF_RGD_ID:6483537 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:9001341 Chloracne ISO RGD:736498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:9002211 Hyperalgesia treatment ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:20423341|REF_RGD_ID:10003041 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:9002457 Experimental Arthritis ISO RGD:736498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18287210 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:9002457 Experimental Arthritis disease_progression ISO RGD:628641 D RGD:9068941 20200609 RGD mRNA:increased expression:tarsal joint, synovium (rat) PMID:11207665|REF_RGD_ID:10043377 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:18287210|REF_RGD_ID:10003052 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:732089 D RGD:9068941 20200609 RGD PMID:20423341|REF_RGD_ID:10003041 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:9002910 Hearing Loss, Noise-Induced resistance ISO RGD:732089 D RGD:9068941 20200609 RGD PMID:22198478|REF_RGD_ID:6483524 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:9004914 Postmenopausal Osteoporosis treatment ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:11917107|REF_RGD_ID:10003045 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:9005372 Inflammation ISO RGD:736498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18287210 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:9005372 Inflammation treatment ISO RGD:628641 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental PMID:18498708|REF_RGD_ID:10043613 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:9005930 Endotoxemia ISO RGD:628641 D RGD:9068941 20200609 RGD protein:increased expression:paraventricular hypothalamic nucleus parvicellular division (rat) PMID:11058222|REF_RGD_ID:10043329 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:9006024 Hypotension ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:15201706|REF_RGD_ID:1581283 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:9006937 NSAID-Enteropathy treatment ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:11991626|REF_RGD_ID:10003093 12400625 PTGER4 prostaglandin E receptor 4 gene DOID:9007096 Stroke ISO RGD:732089 D RGD:9068941 20200609 RGD PMID:21965326|REF_RGD_ID:6483526 12400632 CD109 CD109 molecule gene DOID:630 genetic disease ISO RGD:1322663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400632 CD109 CD109 molecule gene DOID:9002189 High Myopia ISO RGD:1322663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12400632 CD109 CD109 molecule gene DOID:9008443 Colorectal Neoplasms ISO RGD:1322663 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 12400632 CD109 CD109 molecule gene DOID:9008939 Breast Neoplasms ISO RGD:1322663 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 12400671 SSBP1 single stranded DNA binding protein 1 gene DOID:0080690 RASopathy ISO RGD:736464 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12400671 SSBP1 single stranded DNA binding protein 1 gene DOID:37 skin disease ISO RGD:736464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12400671 SSBP1 single stranded DNA binding protein 1 gene DOID:630 genetic disease ISO RGD:736464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400671 SSBP1 single stranded DNA binding protein 1 gene DOID:9005656 Optic Atrophy 13 ISO RGD:736464 D RGD:7240710 20200930 OMIM 12400671 SSBP1 single stranded DNA binding protein 1 gene DOID:9005656 Optic Atrophy 13 ISO RGD:736464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic atrophy 13 with retinal and foveal abnormalities PMID:25741868|PMID:31298765|PMID:31550237|PMID:31550240 12400671 SSBP1 single stranded DNA binding protein 1 gene DOID:9007964 Arsenic Poisoning ISO RGD:736464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12400671 SSBP1 single stranded DNA binding protein 1 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:736464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 12400714 RBKS ribokinase gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1320751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12400714 RBKS ribokinase gene DOID:630 genetic disease ISO RGD:1320751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400744 INPP4B inositol polyphosphate-4-phosphatase type II B gene DOID:11054 urinary bladder cancer ISO RGD:734292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29415082 12400744 INPP4B inositol polyphosphate-4-phosphatase type II B gene DOID:4450 renal cell carcinoma ISO RGD:734292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29415082 12400744 INPP4B inositol polyphosphate-4-phosphatase type II B gene DOID:4905 pancreatic carcinoma ISO RGD:734292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29415082 12400744 INPP4B inositol polyphosphate-4-phosphatase type II B gene DOID:630 genetic disease ISO RGD:734292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400744 INPP4B inositol polyphosphate-4-phosphatase type II B gene DOID:684 hepatocellular carcinoma ISO RGD:734292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29415082 12400744 INPP4B inositol polyphosphate-4-phosphatase type II B gene DOID:9119 acute myeloid leukemia ISO RGD:734292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29415082 12400782 DZIP3 DAZ interacting zinc finger protein 3 gene DOID:630 genetic disease ISO RGD:1602727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400831 CLK1 CDC like kinase 1 gene DOID:630 genetic disease ISO RGD:1322944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400831 CLK1 CDC like kinase 1 gene DOID:8469 influenza ISO RGD:1550637 D RGD:9068941 20221110 RGD PMID:34883209|REF_RGD_ID:155641258 12400831 CLK1 CDC like kinase 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1322944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12400831 CLK1 CDC like kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12400856 TBC1D2 TBC1 domain family member 2 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1315719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 12400856 TBC1D2 TBC1 domain family member 2 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1315719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 12400856 TBC1D2 TBC1 domain family member 2 gene DOID:0080600 COVID-19 ISO RGD:1315719 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12400856 TBC1D2 TBC1 domain family member 2 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1315719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 12400856 TBC1D2 TBC1 domain family member 2 gene DOID:1059 intellectual disability ISO RGD:1315719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12400856 TBC1D2 TBC1 domain family member 2 gene DOID:12712 nephronophthisis ISO RGD:1315719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 12400856 TBC1D2 TBC1 domain family member 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1315719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 12400856 TBC1D2 TBC1 domain family member 2 gene DOID:630 genetic disease ISO RGD:1315719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400856 TBC1D2 TBC1 domain family member 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1315719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 12400856 TBC1D2 TBC1 domain family member 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12400886 NKPD1 NTPase KAP family P-loop domain containing 1 gene DOID:630 genetic disease ISO RGD:1323472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400899 LGALS4 galectin 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1351726 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12400899 LGALS4 galectin 4 gene DOID:630 genetic disease ISO RGD:1351726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400899 LGALS4 galectin 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351726 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12400912 ULK3 unc-51 like kinase 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1349871 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12400912 ULK3 unc-51 like kinase 3 gene DOID:2717 Bloom syndrome ISO RGD:1349871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12400912 ULK3 unc-51 like kinase 3 gene DOID:5419 schizophrenia ISO RGD:1349871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12400912 ULK3 unc-51 like kinase 3 gene DOID:630 genetic disease ISO RGD:1349871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400912 ULK3 unc-51 like kinase 3 gene DOID:9256 colorectal cancer ISO RGD:1349871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12400955 DOP1B DOP1 leucine zipper like protein B gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1314515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12400955 DOP1B DOP1 leucine zipper like protein B gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1314515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12400955 DOP1B DOP1 leucine zipper like protein B gene DOID:10126 keratoconus ISO RGD:1314515 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 12400955 DOP1B DOP1 leucine zipper like protein B gene DOID:630 genetic disease ISO RGD:1314515 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12400955 DOP1B DOP1 leucine zipper like protein B gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1314515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 12401005 GCNT2 glucosaminyl (N-acetyl) transferase 2 (I blood group) gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:1607088 D RGD:7240710 20180130 OMIM 12401005 GCNT2 glucosaminyl (N-acetyl) transferase 2 (I blood group) gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:1607088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ADULT i BLOOD GROUP PHENOTYPE | ClinVar Annotator: match by term: Adult i blood group with or without congenital cataract | ClinVar Annotator: match by term: Blood group, I system | ClinVar Annotator: match by term: Cataract 13 with adult I phenotype PMID:11739194|PMID:12424189|PMID:12468428|PMID:15161861|PMID:17576681|PMID:21761136|PMID:22935719|PMID:25457163|PMID:25741868|PMID:28492532|PMID:29770612|PMID:29914532|PMID:9536098 12401005 GCNT2 glucosaminyl (N-acetyl) transferase 2 (I blood group) gene DOID:630 genetic disease ISO RGD:1607088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401005 GCNT2 glucosaminyl (N-acetyl) transferase 2 (I blood group) gene DOID:83 cataract ISO RGD:1607088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract 12401017 CHD1 chromodomain helicase DNA binding protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1315610 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12401017 CHD1 chromodomain helicase DNA binding protein 1 gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1315610 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:22722839|REF_RGD_ID:9587749 12401017 CHD1 chromodomain helicase DNA binding protein 1 gene DOID:10283 prostate cancer ISO RGD:1315610 D RGD:9068941 20200609 RGD DNA:deletions: : PMID:22179824|REF_RGD_ID:9587750 12401017 CHD1 chromodomain helicase DNA binding protein 1 gene DOID:12849 autistic disorder ISO RGD:1315610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12401017 CHD1 chromodomain helicase DNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1315610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401017 CHD1 chromodomain helicase DNA binding protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12401017 CHD1 chromodomain helicase DNA binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12401017 CHD1 chromodomain helicase DNA binding protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315610 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12401017 CHD1 chromodomain helicase DNA binding protein 1 gene DOID:9008023 Memory Disorders ISO RGD:1315610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30728766 12401017 CHD1 chromodomain helicase DNA binding protein 1 gene DOID:9008136 Pilarowski-Bjornsson Syndrome ISO RGD:1315610 D RGD:7240710 20190315 OMIM 12401017 CHD1 chromodomain helicase DNA binding protein 1 gene DOID:9008136 Pilarowski-Bjornsson Syndrome ISO RGD:1315610 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pilarowski-Bjornsson syndrome PMID:25741868|PMID:28492532|PMID:28866611 12401017 CHD1 chromodomain helicase DNA binding protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 12401056 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12401056 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1317121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12401056 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1317121 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12401056 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:25741868 12401056 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:0110872 holoprosencephaly 2 ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 2 PMID:25741868|PMID:34008892 12401056 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1317121 D RGD:7240710 20190320 OMIM 12401056 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1317121 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:12676901|PMID:12807965|PMID:14517949|PMID:14571271|PMID:14627693|PMID:14997421|PMID:15452385|PMID:15720303|PMID:15742365|PMID:15942875|PMID:16199547|PMID:16222665|PMID:16232326|PMID:16247291|PMID:16770806|PMID:17090394|PMID:17561922|PMID:17565728|PMID:17565729|PMID:17576681|PMID:18001468|PMID:18414213|PMID:18505455|PMID:19545651|PMID:19763152|PMID:19876911|PMID:20018718|PMID:20307669|PMID:21196496|PMID:21567906|PMID:21597970|PMID:21738022|PMID:21834047|PMID:21972110|PMID:22406018|PMID:22924495|PMID:23190751|PMID:23333153|PMID:23592277|PMID:23599694|PMID:23806086|PMID:23913520|PMID:24088041|PMID:24412544|PMID:24819041|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25608832|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25852445|PMID:26043501|PMID:26047794|PMID:26257172|PMID:26613968|PMID:26633545|PMID:26690673|PMID:26896805|PMID:26938784|PMID:27604501|PMID:27834868|PMID:28128410|PMID:28475857|PMID:28492532|PMID:29264563|PMID:29276005|PMID:30029678|PMID:30719864|PMID:31147750|PMID:31981491|PMID:32170002|PMID:32277047|PMID:33389145|PMID:34008892|PMID:34033256|PMID:9536098 12401056 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:1059 intellectual disability ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12401056 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:10591 pre-eclampsia ISO RGD:1317121 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Preeclampsia PMID:12464997|PMID:12807965|PMID:15942875|PMID:17565729|PMID:18414213|PMID:21196496|PMID:24412544|PMID:25741868|PMID:26690673|PMID:27834868|PMID:28492532|PMID:30719864 12401056 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:10907 microcephaly ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12401056 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:12849 autistic disorder ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:18414213|PMID:25741868|PMID:28492532 12401056 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:14731 Weaver syndrome ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Weaver syndrome PMID:18414213|PMID:25741868|PMID:28492532 12401056 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:14748 Sotos syndrome ISO RGD:1317121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral gigantism | ClinVar Annotator: match by term: Sotos syndrome PMID:11896389|PMID:12464997|PMID:12525543|PMID:12676901|PMID:14571271|PMID:14997421|PMID:15452385|PMID:15580547|PMID:15942875|PMID:16222665|PMID:16247291|PMID:16329110|PMID:18414213|PMID:25533962|PMID:25741868|PMID:28492532|PMID:29264563|PMID:29276005 12401056 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:1826 epilepsy ISO RGD:1317121 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12401056 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1317121 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar Annotator: match by term: EMG Syndrome PMID:12464997|PMID:12807965|PMID:14571271|PMID:15452385|PMID:15742365|PMID:15942875|PMID:16232326|PMID:16247291|PMID:17561922|PMID:17565729|PMID:18414213|PMID:18505455|PMID:19545651|PMID:19876911|PMID:21196496|PMID:21597970|PMID:21972110|PMID:22924495|PMID:23190751|PMID:24412544|PMID:25326635|PMID:25326637|PMID:25608832|PMID:25741868|PMID:25741869|PMID:25852445|PMID:26690673|PMID:26896805|PMID:27834868|PMID:28475857|PMID:28492532|PMID:30719864 12401056 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:5648 choroid plexus carcinoma ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Choroid plexus carcinoma PMID:26822237 12401056 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:630 genetic disease ISO RGD:1317121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11226167|PMID:12464997|PMID:12807965|PMID:14517949|PMID:14571271|PMID:15452385|PMID:15720303|PMID:15942875|PMID:16222665|PMID:16232326|PMID:16247291|PMID:17565729|PMID:18001468|PMID:18414213|PMID:21972110|PMID:23592277|PMID:24412544|PMID:25741868|PMID:25741869|PMID:26613968|PMID:26690673|PMID:26876097|PMID:28475857|PMID:28492532 12401056 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:769 neuroblastoma severity ISO RGD:1317121 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter:CpG islands (human) PMID:20018718|REF_RGD_ID:9590155 12401056 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:9003133 Hypertelorism ISO RGD:1317121 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:12464997|PMID:12807965|PMID:15942875|PMID:17565729|PMID:18414213|PMID:21196496|PMID:24412544|PMID:25741868|PMID:26690673|PMID:27834868|PMID:28492532|PMID:30719864 12401056 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12401056 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:9004464 Skin Neoplasms ISO RGD:1614441 D RGD:9068941 20200609 RGD PMID:22832494|REF_RGD_ID:9590156 12401056 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:9006084 Gigantism ISO RGD:1317121 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:6605G>A(p.C2202Y)(human) PMID:16222665|REF_RGD_ID:11568154 12401056 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1317121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:28492532|PMID:32277047 12401056 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 12401056 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 12401056 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1317121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:17565729|PMID:23190751|PMID:25741868|PMID:28492532 12401056 NSD1 nuclear receptor binding SET domain protein 1 gene DOID:9119 acute myeloid leukemia severity ISO RGD:1317121 D RGD:9068941 20200609 RGD DNA:translocations:multiple (human) PMID:23630019|REF_RGD_ID:9590149 12401106 IGSF9B immunoglobulin superfamily member 9B gene DOID:0111723 Jacobsen Syndrome ISO RGD:1604824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12401106 IGSF9B immunoglobulin superfamily member 9B gene DOID:5419 schizophrenia ISO RGD:1604824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12401106 IGSF9B immunoglobulin superfamily member 9B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12401106 IGSF9B immunoglobulin superfamily member 9B gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1604824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:16857760|PMID:21109224|PMID:23255084|PMID:28492532 12401132 FOXR1 forkhead box R1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1320240 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12401132 FOXR1 forkhead box R1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1320240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12401132 FOXR1 forkhead box R1 gene DOID:0080690 RASopathy ISO RGD:1320240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12401132 FOXR1 forkhead box R1 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1320240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12401132 FOXR1 forkhead box R1 gene DOID:0110651 long QT syndrome 10 ISO RGD:1320240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12401132 FOXR1 forkhead box R1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1320240 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12401132 FOXR1 forkhead box R1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1320240 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12401132 FOXR1 forkhead box R1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1320240 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12401132 FOXR1 forkhead box R1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1320240 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12401132 FOXR1 forkhead box R1 gene DOID:630 genetic disease ISO RGD:1320240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401132 FOXR1 forkhead box R1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12401132 FOXR1 forkhead box R1 gene DOID:9007661 Dwarfism ISO RGD:1320240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12401148 ZBTB25 zinc finger and BTB domain containing 25 gene DOID:627 severe combined immunodeficiency ISO RGD:1344853 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 12401148 ZBTB25 zinc finger and BTB domain containing 25 gene DOID:630 genetic disease ISO RGD:1344853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12401213 BNIP1 BCL2 interacting protein 1 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:732440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 12401213 BNIP1 BCL2 interacting protein 1 gene DOID:14250 Down syndrome ISO RGD:732440 D RGD:9068941 20200609 RGD mRNA:decreased expression:amniotic fluid cell: PMID:15716609|REF_RGD_ID:14398459 12401213 BNIP1 BCL2 interacting protein 1 gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:732440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita PMID:25741868 12401213 BNIP1 BCL2 interacting protein 1 gene DOID:630 genetic disease ISO RGD:732440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401213 BNIP1 BCL2 interacting protein 1 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:732440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 12401231 OAS2 2'-5'-oligoadenylate synthetase 2 gene DOID:630 genetic disease ISO RGD:1348906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401231 OAS2 2'-5'-oligoadenylate synthetase 2 gene DOID:9001488 Human Influenza ISO RGD:1348906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12401260 PRAM1 PML-RARA regulated adaptor molecule 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1604582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 12401260 PRAM1 PML-RARA regulated adaptor molecule 1 gene DOID:12849 autistic disorder ISO RGD:1604582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12401260 PRAM1 PML-RARA regulated adaptor molecule 1 gene DOID:630 genetic disease ISO RGD:1604582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401278 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:0050671 female breast cancer susceptibility ISO RGD:1354102 D RGD:9068941 20220609 RGD DNA:missense mutation:cds: (human) PMID:30303537|REF_RGD_ID:152995259 12401278 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1354102 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12401278 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1354102 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12401278 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1354102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12401278 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:0111403 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ISO RGD:1354102 D RGD:7240710 20190417 OMIM 12401278 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:0111403 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ISO RGD:1354102 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations PMID:25741868|PMID:28492532|PMID:30449657|PMID:32198973 12401278 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:1059 intellectual disability ISO RGD:1354102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12401278 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1354102 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12401278 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:630 genetic disease ISO RGD:1354102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12614677|PMID:25741868|PMID:28492532 12401278 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1354102 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:28492532 12401312 MIR450A microRNA mir-450a gene DOID:12849 autistic disorder ISO RGD:1605753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12401353 ACTR3 actin related protein 3 gene DOID:0080199 colorectal carcinoma severity ISO RGD:736322 D RGD:9068941 20200609 RGD protein:increased expression:colonic mucosa (human) PMID:14990971|REF_RGD_ID:11570560 12401353 ACTR3 actin related protein 3 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:71024 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L111F (rat) PMID:18064521|REF_RGD_ID:2292230 12401353 ACTR3 actin related protein 3 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:71024 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus (rat) PMID:27251563|REF_RGD_ID:11575049 12401353 ACTR3 actin related protein 3 gene DOID:13768 opisthorchiasis ISO RGD:736322 D RGD:9068941 20200609 RGD PMID:25809205|REF_RGD_ID:11570559 12401353 ACTR3 actin related protein 3 gene DOID:3068 glioblastoma ISO RGD:736322 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (human) PMID:25682201|REF_RGD_ID:11570557 12401353 ACTR3 actin related protein 3 gene DOID:4948 gallbladder carcinoma severity ISO RGD:736322 D RGD:9068941 20200609 RGD Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human) PMID:23320827|REF_RGD_ID:11571623 12401353 ACTR3 actin related protein 3 gene DOID:5419 schizophrenia ISO RGD:71024 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex (rat) PMID:23942359|REF_RGD_ID:11571618 12401353 ACTR3 actin related protein 3 gene DOID:5419 schizophrenia ISO RGD:736322 D RGD:9068941 20200609 RGD protein:altered expression:anterior cingulate cortex (human) PMID:16491132|REF_RGD_ID:11571621 12401353 ACTR3 actin related protein 3 gene DOID:630 genetic disease ISO RGD:736322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401353 ACTR3 actin related protein 3 gene DOID:9002775 Cognitive Dysfunction ISO RGD:71024 D RGD:9068941 20200609 RGD protein:altered localization:hippocampus (rat) PMID:24069387|REF_RGD_ID:9999367 12401353 ACTR3 actin related protein 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736322 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12401368 KLK1 kallikrein 1 gene DOID:0050700 cardiomyopathy ISO RGD:1349866 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:15117887|REF_RGD_ID:1641802 12401368 KLK1 kallikrein 1 gene DOID:10763 hypertension ISO RGD:1349866 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14568997 12401368 KLK1 kallikrein 1 gene DOID:10763 hypertension ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:17272402|REF_RGD_ID:1641794 12401368 KLK1 kallikrein 1 gene DOID:10763 hypertension ISO RGD:2969 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:15809361|REF_RGD_ID:1358144 12401368 KLK1 kallikrein 1 gene DOID:10763 hypertension no_association ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:15167446|REF_RGD_ID:1581751 12401368 KLK1 kallikrein 1 gene DOID:10763 hypertension susceptibility ISO RGD:1349866 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:15905889|REF_RGD_ID:1641795 12401368 KLK1 kallikrein 1 gene DOID:3021 acute kidney failure ISO RGD:1349866 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18227104 12401368 KLK1 kallikrein 1 gene DOID:4989 pancreatitis ISO RGD:2969 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:12770935|REF_RGD_ID:1641805 12401368 KLK1 kallikrein 1 gene DOID:5844 myocardial infarction ISO RGD:1349866 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12411458 12401368 KLK1 kallikrein 1 gene DOID:5844 myocardial infarction ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:17022964|REF_RGD_ID:1641799 12401368 KLK1 kallikrein 1 gene DOID:630 genetic disease ISO RGD:1349866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401368 KLK1 kallikrein 1 gene DOID:783 end stage renal disease ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:11849458|REF_RGD_ID:1581753 12401368 KLK1 kallikrein 1 gene DOID:784 chronic kidney disease susceptibility ISO RGD:1349866 D RGD:9068941 20200609 RGD associated with Vesico-Ureteral Reflux PMID:15086490|REF_RGD_ID:1581752 12401368 KLK1 kallikrein 1 gene DOID:9000784 Fibrosis ISO RGD:1349866 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18227104 12401368 KLK1 kallikrein 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349866 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19516248 12401368 KLK1 kallikrein 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:17272402|REF_RGD_ID:1641794 12401368 KLK1 kallikrein 1 gene DOID:9003936 Cardiomegaly ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:17137568|REF_RGD_ID:1641797 12401368 KLK1 kallikrein 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2969 D RGD:9068941 20200609 RGD PMID:12746231|REF_RGD_ID:1641806 12401368 KLK1 kallikrein 1 gene DOID:9004915 Decreased Urinary Activity of Kallikrein ISO RGD:1349866 D RGD:7240710 20180130 OMIM 12401368 KLK1 kallikrein 1 gene DOID:9004915 Decreased Urinary Activity of Kallikrein ISO RGD:1349866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kallikrein, decreased urinary activity of PMID:11912256|PMID:15765151 12401368 KLK1 kallikrein 1 gene DOID:9005372 Inflammation ISO RGD:2969 D RGD:9068941 20200609 RGD PMID:17015177|REF_RGD_ID:1641800 12401368 KLK1 kallikrein 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2969 D RGD:9068941 20200609 RGD mRNA:decreased expression:myocardium PMID:10604522|REF_RGD_ID:1641812 12401368 KLK1 kallikrein 1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:1349866 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16129698 12401368 KLK1 kallikrein 1 gene DOID:9007692 Insulin Resistance ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:17272402|REF_RGD_ID:1641794 12401377 CTDP1 CTD phosphatase subunit 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1323374 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12401377 CTDP1 CTD phosphatase subunit 1 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1323374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 12401377 CTDP1 CTD phosphatase subunit 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1323374 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:14517542|PMID:15322984|PMID:16194727|PMID:20301787|PMID:23408394|PMID:24690360|PMID:28492532|PMID:29174527 12401377 CTDP1 CTD phosphatase subunit 1 gene DOID:630 genetic disease ISO RGD:1323374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12401377 CTDP1 CTD phosphatase subunit 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1323374 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12401377 CTDP1 CTD phosphatase subunit 1 gene DOID:8445 intestinal volvulus ISO RGD:1323374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12401377 CTDP1 CTD phosphatase subunit 1 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1323374 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 12401377 CTDP1 CTD phosphatase subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12401377 CTDP1 CTD phosphatase subunit 1 gene DOID:9005826 Congenital Cataracts, Facial Dysmorphism, and Neuropathy ISO RGD:1323374 D RGD:7240710 20180130 OMIM 12401377 CTDP1 CTD phosphatase subunit 1 gene DOID:9005826 Congenital Cataracts, Facial Dysmorphism, and Neuropathy ISO RGD:1323374 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital Cataracts, Facial Dysmorphism, and Neuropathy PMID:14517542|PMID:15322984|PMID:16194727|PMID:20301787|PMID:23408394|PMID:24690360|PMID:25741868|PMID:28492532|PMID:29174527 12401377 CTDP1 CTD phosphatase subunit 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1323374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12401417 PTPDC1 protein tyrosine phosphatase domain containing 1 gene DOID:12642 hiatus hernia ISO RGD:1317037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hiatus hernia 12401417 PTPDC1 protein tyrosine phosphatase domain containing 1 gene DOID:630 genetic disease ISO RGD:1317037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401443 RPN1 ribophorin I gene DOID:0111947 immunodeficiency 21 ISO RGD:731637 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:22147895|PMID:23223431|PMID:28492532 12401443 RPN1 ribophorin I gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:731637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12401443 RPN1 ribophorin I gene DOID:630 genetic disease ISO RGD:731637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401443 RPN1 ribophorin I gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:731637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532|PMID:31710708 12401443 RPN1 ribophorin I gene DOID:9270 alkaptonuria ISO RGD:731637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12401457 SPSB2 splA/ryanodine receptor domain and SOCS box containing 2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:35315959 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12401457 SPSB2 splA/ryanodine receptor domain and SOCS box containing 2 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:35315959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12401457 SPSB2 splA/ryanodine receptor domain and SOCS box containing 2 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:35315959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12401457 SPSB2 splA/ryanodine receptor domain and SOCS box containing 2 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:35315959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12401457 SPSB2 splA/ryanodine receptor domain and SOCS box containing 2 gene DOID:0111621 Temtamy syndrome ISO RGD:35315959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12401457 SPSB2 splA/ryanodine receptor domain and SOCS box containing 2 gene DOID:630 genetic disease ISO RGD:35315959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401457 SPSB2 splA/ryanodine receptor domain and SOCS box containing 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:35315959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12401470 LARS1 leucyl-tRNA synthetase 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1312707 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12401470 LARS1 leucyl-tRNA synthetase 1 gene DOID:0080717 infantile liver failure syndrome 1 ISO RGD:1312707 D RGD:7240710 20180130 OMIM 12401470 LARS1 leucyl-tRNA synthetase 1 gene DOID:0080717 infantile liver failure syndrome 1 ISO RGD:1312707 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Infantile liver failure syndrome 1 PMID:22607940|PMID:25051973|PMID:25326635|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30349989|PMID:32699352|PMID:34023347|PMID:34194004 12401470 LARS1 leucyl-tRNA synthetase 1 gene DOID:0080778 transient infantile liver failure ISO RGD:1312707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT PMID:16199547|PMID:25741868|PMID:28492532|PMID:32699352 12401470 LARS1 leucyl-tRNA synthetase 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1312707 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:28492532 12401470 LARS1 leucyl-tRNA synthetase 1 gene DOID:10907 microcephaly ISO RGD:1312707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12401470 LARS1 leucyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1312707 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401470 LARS1 leucyl-tRNA synthetase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12401470 LARS1 leucyl-tRNA synthetase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312707 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12401509 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1345395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12401509 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome ISO RGD:1345395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome PMID:25741868|PMID:28492532 12401509 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:0080722 Kenny-Caffey syndrome type 1 ISO RGD:1345395 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome PMID:12389028|PMID:15645691|PMID:2001103|PMID:25741868|PMID:27666369|PMID:7538982|PMID:9475091 12401509 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:0111230 congenital muscular dystrophy-dystroglycanopathy type A11 ISO RGD:1345395 D RGD:7240710 20180130 OMIM 12401509 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:0111230 congenital muscular dystrophy-dystroglycanopathy type A11 ISO RGD:1345395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 PMID:16199547|PMID:17576681|PMID:23453667|PMID:24084573|PMID:25326635|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26663670|PMID:28492532|PMID:29273094|PMID:29302074|PMID:29791932|PMID:31130284|PMID:31428121|PMID:33290285|PMID:9536098 12401509 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:10907 microcephaly ISO RGD:1345395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12401509 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1345395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12401509 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1345395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:28492532 12401509 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:630 genetic disease ISO RGD:1345395 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12389028|PMID:15645691|PMID:16199547|PMID:17576681|PMID:2001103|PMID:23453667|PMID:25741868|PMID:27666369|PMID:28492532|PMID:31130284|PMID:7538982|PMID:9475091|PMID:9536098 12401509 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:9005242 Progressive Encephalopathy with Amyotrophy and Optic Atrophy ISO RGD:1345395 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy PMID:25741868 12401509 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12401525 SLU7 SLU7 homolog, splicing factor gene DOID:630 genetic disease ISO RGD:1606825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401525 SLU7 SLU7 homolog, splicing factor gene DOID:9004657 Weight Gain ISO RGD:1606825 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12401545 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0050777 Joubert syndrome ISO RGD:1606513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:10488899|PMID:20301500|PMID:21679365|PMID:22236771|PMID:22425360|PMID:24033266|PMID:24178751|PMID:25407461|PMID:25741868|PMID:25846457|PMID:25877302|PMID:26092869|PMID:28492532|PMID:29605658 12401545 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0060376 Joubert syndrome with orofaciodigital defect ISO RGD:1606513 D RGD:7240710 20180130 OMIM 12401545 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0060376 Joubert syndrome with orofaciodigital defect ISO RGD:1606513 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: OFDS VI | ClinVar Annotator: match by term: Orofaciodigital syndrome VI | ClinVar Annotator: match by term: Varadi-Papp syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:20301500|PMID:22425360|PMID:22693042|PMID:23523602|PMID:24091540|PMID:24178751|PMID:25407461|PMID:25533962|PMID:25741868|PMID:25846457|PMID:25920555|PMID:26092869|PMID:27081551|PMID:27158779|PMID:28125082|PMID:28289185|PMID:28431631|PMID:28454995|PMID:28492532|PMID:28771248|PMID:28976722|PMID:29321670|PMID:29605658|PMID:30408610|PMID:30919572|PMID:31158925|PMID:31216405|PMID:32037395|PMID:32233090|PMID:33176815|PMID:34008892|PMID:9536098 12401545 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1606513 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:28492532 12401545 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1606513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:22425360|PMID:24033266|PMID:24178751|PMID:25741868|PMID:26092869|PMID:28492532 12401545 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1606513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:22425360|PMID:24178751|PMID:25741868|PMID:26092869|PMID:28492532 12401545 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0110986 Joubert Syndrome 17 ISO RGD:1606513 D RGD:7240710 20180130 OMIM 12401545 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0110986 Joubert Syndrome 17 ISO RGD:1606513 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:10488899|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20301500|PMID:22425360|PMID:22693042|PMID:23523602|PMID:24091540|PMID:24178751|PMID:25407461|PMID:25533962|PMID:25558065|PMID:25741868|PMID:25877302|PMID:25920555|PMID:26092869|PMID:26096313|PMID:26477546|PMID:27081551|PMID:27158779|PMID:27166760|PMID:27434533|PMID:28087721|PMID:28125082|PMID:28289185|PMID:28431631|PMID:28454995|PMID:28492532|PMID:28771248|PMID:28976722|PMID:29321670|PMID:29605658|PMID:30408610|PMID:30919572|PMID:31158925|PMID:31216405|PMID:31980526|PMID:32037395|PMID:32233090|PMID:33176815|PMID:34008892|PMID:9536098 12401545 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0111112 nephronophthisis 1 ISO RGD:1606513 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:24178751|PMID:25741868|PMID:26092869|PMID:28125082|PMID:28492532|PMID:34008892 12401545 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1606513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:22693042|PMID:24178751|PMID:25741868|PMID:26092869|PMID:28492532|PMID:33176815 12401545 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:12712 nephronophthisis ISO RGD:1606513 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:22425360|PMID:24178751|PMID:25741868|PMID:26092869|PMID:28087721|PMID:28125082|PMID:28431631|PMID:28492532|PMID:34008892 12401545 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:3070 high grade glioma ISO RGD:1606513 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:25741868|PMID:28492532 12401545 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:630 genetic disease ISO RGD:1606513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21679365|PMID:22236771|PMID:22425360|PMID:23012439|PMID:24178751|PMID:25407461|PMID:25846457|PMID:28492532 12401545 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12401545 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:9004898 Jaundice ISO RGD:1606513 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Jaundice PMID:24178751|PMID:25407461|PMID:25741868|PMID:26092869|PMID:28125082|PMID:28492532|PMID:34008892 12401545 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1606513 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24178751|PMID:25407461|PMID:25558065|PMID:25741868|PMID:26092869|PMID:28125082|PMID:28492532|PMID:34008892 12401602 CBFB core-binding factor subunit beta gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1320589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12401602 CBFB core-binding factor subunit beta gene DOID:0080006 bone development disease ISO RGD:1320589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17022082 12401602 CBFB core-binding factor subunit beta gene DOID:0081082 acute myelomonocytic leukemia ISO RGD:1320589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10958941 12401602 CBFB core-binding factor subunit beta gene DOID:0081082 acute myelomonocytic leukemia susceptibility ISO RGD:1320589 D RGD:9068941 20200609 RGD DNA:inversion: :inv(16)(p13q22) PMID:8351518|REF_RGD_ID:1599543 12401602 CBFB core-binding factor subunit beta gene DOID:0110255 cataract 5 multiple types ISO RGD:1320589 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 12401602 CBFB core-binding factor subunit beta gene DOID:1682 congenital heart disease ISO RGD:1320589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17022082 12401602 CBFB core-binding factor subunit beta gene DOID:630 genetic disease ISO RGD:1320589 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401602 CBFB core-binding factor subunit beta gene DOID:674 cleft palate ISO RGD:1320589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17022082 12401602 CBFB core-binding factor subunit beta gene DOID:684 hepatocellular carcinoma ISO RGD:1320589 D RGD:9068941 20210409 RGD mRNA:decreased expression:liver PMID:17094378|REF_RGD_ID:126775147 12401602 CBFB core-binding factor subunit beta gene DOID:9003295 Heterotopic Ossification ISO RGD:1320589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17022082 12401602 CBFB core-binding factor subunit beta gene DOID:9006628 Cleidocranial Dysplasia 2 ISO RGD:1320589 D RGD:7240710 20221102 OMIM 12401602 CBFB core-binding factor subunit beta gene DOID:9006628 Cleidocranial Dysplasia 2 ISO RGD:1320589 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cleidocranial dysplasia 2 PMID:25741868|PMID:36241386 12401602 CBFB core-binding factor subunit beta gene DOID:9119 acute myeloid leukemia ISO RGD:1320589 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868|PMID:36241386 12401612 SERPINA5 serpin family A member 5 gene DOID:0081063 DICER1 syndrome ISO RGD:1346137 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 12401612 SERPINA5 serpin family A member 5 gene DOID:13580 cholestasis ISO RGD:1346137 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12401612 SERPINA5 serpin family A member 5 gene DOID:630 genetic disease ISO RGD:1346137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401612 SERPINA5 serpin family A member 5 gene DOID:670 amphetamine abuse ISO RGD:1346137 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12401612 SERPINA5 serpin family A member 5 gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1346137 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:12139754|REF_RGD_ID:1580299 12401627 GPANK1 G-patch domain and ankyrin repeats 1 gene DOID:0050553 JMP syndrome ISO RGD:1321766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12401627 GPANK1 G-patch domain and ankyrin repeats 1 gene DOID:11372 megacolon ISO RGD:1321766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12401627 GPANK1 G-patch domain and ankyrin repeats 1 gene DOID:630 genetic disease ISO RGD:1321766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401640 RIMKLA ribosomal modification protein rimK like family member A gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12401640 RIMKLA ribosomal modification protein rimK like family member A gene DOID:630 genetic disease ISO RGD:1606921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401649 MKNK1 MAPK interacting serine/threonine kinase 1 gene DOID:303 substance-related disorder ISO RGD:1605115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12401649 MKNK1 MAPK interacting serine/threonine kinase 1 gene DOID:630 genetic disease ISO RGD:1605115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401675 CD8B CD8 subunit beta gene DOID:630 genetic disease ISO RGD:736307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401675 CD8B CD8 subunit beta gene DOID:676 juvenile rheumatoid arthritis ISO RGD:736307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12401685 VANGL1 VANGL planar cell polarity protein 1 gene DOID:0050700 cardiomyopathy ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 12401685 VANGL1 VANGL planar cell polarity protein 1 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:24033266|PMID:25741868|PMID:28492532 12401685 VANGL1 VANGL planar cell polarity protein 1 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:24033266|PMID:25741868|PMID:28492532 12401685 VANGL1 VANGL planar cell polarity protein 1 gene DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 PMID:24033266|PMID:25741868|PMID:26196381|PMID:28492532 12401685 VANGL1 VANGL planar cell polarity protein 1 gene DOID:0080074 neural tube defect ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: Neural tube defects, susceptibility to PMID:17409324|PMID:19319979|PMID:22892949|PMID:24033266|PMID:24307374|PMID:24407469|PMID:24452931|PMID:24838524|PMID:25068569|PMID:25208524|PMID:25741868|PMID:26196381|PMID:28492532 12401685 VANGL1 VANGL planar cell polarity protein 1 gene DOID:0080074 neural tube defect susceptibility ISO RGD:1319967 D RGD:7240710 20230517 OMIM 12401685 VANGL1 VANGL planar cell polarity protein 1 gene DOID:0080690 RASopathy ISO RGD:1319967 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12401685 VANGL1 VANGL planar cell polarity protein 1 gene DOID:0080700 caudal regression syndrome ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Caudal regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele PMID:17409324|PMID:19319979|PMID:22892949|PMID:24033266|PMID:24307374|PMID:24407469|PMID:24452931|PMID:24838524|PMID:25068569|PMID:25208524|PMID:25741868|PMID:26196381|PMID:28492532 12401685 VANGL1 VANGL planar cell polarity protein 1 gene DOID:0080700 caudal regression syndrome susceptibility ISO RGD:1319967 D RGD:7240710 20230517 OMIM 12401685 VANGL1 VANGL planar cell polarity protein 1 gene DOID:10126 keratoconus ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 12401685 VANGL1 VANGL planar cell polarity protein 1 gene DOID:11836 clubfoot ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868 12401685 VANGL1 VANGL planar cell polarity protein 1 gene DOID:630 genetic disease ISO RGD:1319967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401685 VANGL1 VANGL planar cell polarity protein 1 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia PMID:24033266|PMID:25741868|PMID:28492532 12401700 CEP131 centrosomal protein 131 gene DOID:630 genetic disease ISO RGD:1346806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401700 CEP131 centrosomal protein 131 gene DOID:684 hepatocellular carcinoma ISO RGD:1346806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12401729 PLAGL1 PLAG1 like zinc finger 1 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:736872 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532 12401729 PLAGL1 PLAG1 like zinc finger 1 gene DOID:2661 myoepithelioma ISO RGD:736872 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12401729 PLAGL1 PLAG1 like zinc finger 1 gene DOID:630 genetic disease ISO RGD:736872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401729 PLAGL1 PLAG1 like zinc finger 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:736872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69093 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10227563|PMID:10389854|PMID:10447526|PMID:10606640|PMID:10768098|PMID:10819248|PMID:10983627|PMID:11043869|PMID:11272211|PMID:12110948|PMID:12193589|PMID:12203996|PMID:12220494|PMID:12627330|PMID:12669197|PMID:15281001|PMID:15793260|PMID:15830177|PMID:15928245|PMID:16223942|PMID:16602010|PMID:16883527|PMID:16917892|PMID:16946562|PMID:17407387|PMID:17563455|PMID:17573900|PMID:18268044|PMID:18414213|PMID:18811724|PMID:193395|PMID:19406499|PMID:20164212|PMID:20705777|PMID:21353246|PMID:22662265|PMID:22802087|PMID:23227446|PMID:23268925|PMID:23348805|PMID:23485969|PMID:23551881|PMID:24033266|PMID:24097065|PMID:24285859|PMID:24947580|PMID:25041077|PMID:25414397|PMID:25631608|PMID:25741868|PMID:25819479|PMID:26059258|PMID:26467025|PMID:26512799|PMID:26981542|PMID:27080136|PMID:27245055|PMID:27420379|PMID:27486234|PMID:27810688|PMID:27846149|PMID:27913849|PMID:28458902|PMID:28492532|PMID:28693455|PMID:28844315|PMID:29207974|PMID:29355436|PMID:29493090|PMID:29792621|PMID:29998026|PMID:30005691|PMID:30026763|PMID:30191603|PMID:30191644|PMID:30665703|PMID:30977832|PMID:31523701|PMID:31529154|PMID:31529156|PMID:31875549|PMID:31957151|PMID:32583173|PMID:34789499|PMID:34805411|PMID:35052457|PMID:35118593|PMID:36257325|PMID:9267996|PMID:9313765|PMID:9449683 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10227563|PMID:10389854|PMID:10447526|PMID:10606640|PMID:10768098|PMID:10819248|PMID:10983627|PMID:11043869|PMID:11272211|PMID:12110948|PMID:12193589|PMID:12203996|PMID:12220494|PMID:12627330|PMID:12669197|PMID:15281001|PMID:15793260|PMID:15830177|PMID:15928245|PMID:16223942|PMID:16602010|PMID:16883527|PMID:16917892|PMID:16946562|PMID:17407387|PMID:17563455|PMID:17573900|PMID:18268044|PMID:18356407|PMID:18414213|PMID:18811724|PMID:193395|PMID:19406499|PMID:20164212|PMID:20705777|PMID:21353246|PMID:22060211|PMID:22662265|PMID:22802087|PMID:23227446|PMID:23268925|PMID:23348805|PMID:23485969|PMID:23551881|PMID:24033266|PMID:24097065|PMID:24285859|PMID:24947580|PMID:25041077|PMID:25414397|PMID:25631608|PMID:25741868|PMID:25819479|PMID:26059258|PMID:26467025|PMID:26512799|PMID:26981542|PMID:27080136|PMID:27245055|PMID:27420379|PMID:27486234|PMID:27810688|PMID:27846149|PMID:27913849|PMID:28458902|PMID:28492532|PMID:28693455|PMID:28844315|PMID:28862987|PMID:29207974|PMID:29355436|PMID:29417725|PMID:29493090|PMID:29792621|PMID:29998026|PMID:30005691|PMID:30026763|PMID:30191603|PMID:30191644|PMID:30665703|PMID:30977832|PMID:31523701|PMID:31529154|PMID:31529156|PMID:31704690|PMID:31875549|PMID:31957151|PMID:32583173|PMID:34556497|PMID:34789499|PMID:34805411|PMID:35052457|PMID:35118593|PMID:36257325|PMID:9267996|PMID:9313765|PMID:9449683 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10227563|PMID:10389854|PMID:10447526|PMID:10592235|PMID:10606640|PMID:10768098|PMID:10819248|PMID:10983627|PMID:11043869|PMID:11272211|PMID:12110948|PMID:12193589|PMID:12203996|PMID:12220494|PMID:12627330|PMID:12669197|PMID:15281001|PMID:15793260|PMID:15830177|PMID:15928245|PMID:16199547|PMID:16223942|PMID:16602010|PMID:16883527|PMID:16917892|PMID:16946562|PMID:17407387|PMID:17563455|PMID:17573900|PMID:18268044|PMID:18356407|PMID:18414213|PMID:18811724|PMID:193395|PMID:19406499|PMID:20164212|PMID:20705777|PMID:21105491|PMID:21353246|PMID:21683639|PMID:22060211|PMID:22662265|PMID:22802087|PMID:23227446|PMID:23268925|PMID:23275527|PMID:23348805|PMID:23485969|PMID:23551881|PMID:23771925|PMID:24033266|PMID:24097065|PMID:24285859|PMID:24947580|PMID:25041077|PMID:25414397|PMID:25631608|PMID:25741868|PMID:25819479|PMID:26059258|PMID:26467025|PMID:26512799|PMID:26981542|PMID:27080136|PMID:27245055|PMID:27420379|PMID:27486234|PMID:27810688|PMID:27846149|PMID:27913849|PMID:28166811|PMID:28242437|PMID:28458902|PMID:28492532|PMID:28693455|PMID:28844315|PMID:28862987|PMID:29207974|PMID:29355436|PMID:29417725|PMID:29493090|PMID:29792621|PMID:29998026|PMID:30005691|PMID:30026763|PMID:30191603|PMID:30191644|PMID:30665703|PMID:30977832|PMID:31523701|PMID:31529154|PMID:31529156|PMID:31704690|PMID:31875549|PMID:31957151|PMID:32583173|PMID:34556497|PMID:34789499|PMID:34805411|PMID:35052457|PMID:35118593|PMID:36257325|PMID:9267996|PMID:9313765|PMID:9449683 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:0050770 polycystic liver disease ISO RGD:69093 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:10227563|PMID:10768098|PMID:21105491|PMID:23227446|PMID:23247789|PMID:24097065|PMID:25741868|PMID:25905084|PMID:26059258|PMID:26467025|PMID:27884173|PMID:28492532|PMID:29355436|PMID:30191603|PMID:31264968|PMID:31595705 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:0080760 Fanconi renotubular syndrome 4 ISO RGD:69093 D RGD:7240710 20180130 OMIM 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:0080760 Fanconi renotubular syndrome 4 ISO RGD:69093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FRTS4 WITH MODY | ClinVar Annotator: match by term: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young PMID:10227563|PMID:10768098|PMID:15123688|PMID:15826954|PMID:17563455|PMID:18268044|PMID:20164212|PMID:21105491|PMID:21683639|PMID:22802087|PMID:23227446|PMID:23247789|PMID:23348805|PMID:23485969|PMID:24097065|PMID:24285859|PMID:25741868|PMID:25819479|PMID:25905084|PMID:26059258|PMID:26467025|PMID:27245055|PMID:27884173|PMID:28458902|PMID:28492532|PMID:28693455|PMID:28844315|PMID:29355436|PMID:30005691|PMID:30191603|PMID:30977832|PMID:31264968|PMID:31529154|PMID:31529156|PMID:31595705|PMID:31875549|PMID:32583173|PMID:35052457|PMID:35118593 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69093 D RGD:7240710 20180130 OMIM 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10227563|PMID:10389854|PMID:10447526|PMID:10592235|PMID:10606640|PMID:10768098|PMID:10819248|PMID:10905494|PMID:10983627|PMID:11043869|PMID:11272211|PMID:11435618|PMID:11575290|PMID:12050210|PMID:12110948|PMID:12193589|PMID:12203996|PMID:12220494|PMID:12235114|PMID:12242469|PMID:12627330|PMID:12669197|PMID:15123688|PMID:15281001|PMID:15728204|PMID:15793260|PMID:15826954|PMID:15830177|PMID:15928245|PMID:16223942|PMID:16602010|PMID:16883527|PMID:16917892|PMID:16946562|PMID:17389749|PMID:17407387|PMID:17563455|PMID:18268044|PMID:18356407|PMID:18414213|PMID:18811724|PMID:193395|PMID:19478207|PMID:20164212|PMID:20705777|PMID:21062274|PMID:21105491|PMID:21353246|PMID:21683639|PMID:22140441|PMID:22232426|PMID:22662265|PMID:22802087|PMID:23227446|PMID:23247789|PMID:23268925|PMID:23275527|PMID:23348805|PMID:23485969|PMID:23506826|PMID:23551881|PMID:23771925|PMID:24033266|PMID:24097065|PMID:24285859|PMID:24476040|PMID:24947580|PMID:25041077|PMID:25306193|PMID:25414397|PMID:25555642|PMID:25631608|PMID:25741868|PMID:25819479|PMID:25905084|PMID:26059258|PMID:26467025|PMID:26512799|PMID:26552609|PMID:26740944|PMID:26971647|PMID:26981542|PMID:27080136|PMID:27245055|PMID:27420379|PMID:27486234|PMID:27552834|PMID:27884173|PMID:27913849|PMID:28166811|PMID:28242437|PMID:28458902|PMID:28492532|PMID:28693455|PMID:28844315|PMID:28862987|PMID:29207974|PMID:29355436|PMID:29493090|PMID:29792621|PMID:29998026|PMID:30005691|PMID:30191603|PMID:30191644|PMID:30447144|PMID:30663027|PMID:30665703|PMID:30977832|PMID:31264968|PMID:31523701|PMID:31529154|PMID:31529156|PMID:31578528|PMID:31595705|PMID:31825128|PMID:31875549|PMID:32041611|PMID:32583173|PMID:33046911|PMID:34789499|PMID:34805411|PMID:35052457|PMID:35118593|PMID:36257325|PMID:8945471|PMID:9267996|PMID:9294105|PMID:9313765|PMID:9371825|PMID:9449683|PMID:9920109 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:0111102 maturity-onset diabetes of the young type 3 ISO RGD:69093 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3 PMID:25741868|PMID:36257325 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:1062 Fanconi syndrome ISO RGD:1550718 D RGD:9068941 20220825 MouseDO OMIM:134600 | OMIM:613388 | OMIM:615605 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:13809 familial combined hyperlipidemia ISO RGD:69093 D RGD:9068941 20200609 RGD DNA:haplotype: :rs6031558,rs745975, rs3212198(human) PMID:18340007|REF_RGD_ID:12904697 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:1686 glaucoma ISO RGD:69093 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (human) PMID:28990066|REF_RGD_ID:155630605 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:2018 hyperinsulinism ISO RGD:69093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism due to HNF4A deficiency | ClinVar Annotator: match by term: Hyperinsulinism, Dominant PMID:10983627|PMID:15793260|PMID:16883527|PMID:16917892|PMID:16946562|PMID:17563455|PMID:17573900|PMID:18268044|PMID:18811724|PMID:19406499|PMID:20164212|PMID:20705777|PMID:21353246|PMID:22662265|PMID:22802087|PMID:23348805|PMID:23485969|PMID:24033266|PMID:24285859|PMID:25741868|PMID:25819479|PMID:26467025|PMID:27245055|PMID:27846149|PMID:28458902|PMID:28492532|PMID:28693455|PMID:28844315|PMID:29493090|PMID:29998026|PMID:30005691|PMID:30977832|PMID:31523701|PMID:31529154|PMID:31529156|PMID:31875549|PMID:32583173|PMID:34789499|PMID:35052457|PMID:35118593|PMID:36257325|PMID:9267996|PMID:9313765|PMID:9449683 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:2234 focal epilepsy ISO RGD:69093 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:5082 liver cirrhosis ISO RGD:69093 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:20876809|REF_RGD_ID:12904747 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:630 genetic disease ISO RGD:69093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17563455|PMID:18268044|PMID:32583173|PMID:35052457|PMID:35118593 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:684 hepatocellular carcinoma ISO RGD:2810 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:20876809|REF_RGD_ID:12904747 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:684 hepatocellular carcinoma ISO RGD:69093 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:20876809|REF_RGD_ID:12904747 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:8577 ulcerative colitis ISO RGD:69093 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19915572 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:69093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9000808 Hypercholesterolemia resistance ISO RGD:69093 D RGD:9068941 20200609 RGD Finnish and Mexican populations; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1B (2-1-1) PMID:16804065|REF_RGD_ID:1601642 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:69093 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease PMID:10227563|PMID:10768098|PMID:21105491|PMID:23227446|PMID:23247789|PMID:24097065|PMID:25741868|PMID:25905084|PMID:26059258|PMID:26467025|PMID:27884173|PMID:28492532|PMID:29355436|PMID:30191603|PMID:31264968|PMID:31595705 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9002165 Diabetic Nephropathies ISO RGD:2810 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney, liver PMID:18184923|REF_RGD_ID:2301838 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9002231 Fetal Growth Retardation ISO RGD:69093 D RGD:9068941 20200609 RGD DNA:altered methylation:prompter: PMID:20126273|REF_RGD_ID:12904699 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9002427 Fetal Macrosomia ISO RGD:2810 D RGD:9068941 20200609 RGD PMID:19435144|REF_RGD_ID:12904767 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9002427 Fetal Macrosomia ISO RGD:69093 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:17407387|REF_RGD_ID:12904698 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9003426 Glycosuria ISO RGD:69093 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Glycosuria PMID:10983627|PMID:15793260|PMID:16883527|PMID:16946562|PMID:17573900|PMID:18811724|PMID:19406499|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27846149|PMID:28492532|PMID:9267996|PMID:9313765|PMID:9449683 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1550718 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:19179483|REF_RGD_ID:12904769 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2810 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney, liver PMID:18184923|REF_RGD_ID:2301838 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9006599 Hypertriglyceridemia ISO RGD:69093 D RGD:9068941 20200609 RGD Finnish and Mexican populations; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1A (1-1-2) PMID:16804065|REF_RGD_ID:1601642 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9006646 Metabolic Syndrome ISO RGD:69093 D RGD:9068941 20200609 RGD Finnish population; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1A (1-1-2) PMID:16804065|REF_RGD_ID:1601642 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:69093 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hyperinsulinism PMID:10227563|PMID:10447526|PMID:10768098|PMID:10983627|PMID:12669197|PMID:15281001|PMID:15793260|PMID:15928245|PMID:16883527|PMID:16946562|PMID:17563455|PMID:18268044|PMID:18414213|PMID:20164212|PMID:21105491|PMID:22140441|PMID:22232426|PMID:23227446|PMID:23247789|PMID:24033266|PMID:24097065|PMID:24476040|PMID:25041077|PMID:25631608|PMID:25741868|PMID:25905084|PMID:26059258|PMID:26467025|PMID:26512799|PMID:26740944|PMID:26981542|PMID:27080136|PMID:27420379|PMID:27884173|PMID:28492532|PMID:29207974|PMID:29355436|PMID:29792621|PMID:30191603|PMID:31264968|PMID:31595705|PMID:32583173|PMID:34805411|PMID:35052457|PMID:35118593 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9351 diabetes mellitus ISO RGD:69093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10606640|PMID:10983627|PMID:12669197|PMID:15728204|PMID:16883527|PMID:16946562|PMID:17563455|PMID:18268044|PMID:18414213|PMID:21062274|PMID:24033266|PMID:24097065|PMID:25741868|PMID:26467025|PMID:26981542|PMID:27913849|PMID:28492532|PMID:30191644|PMID:31264968|PMID:32041611|PMID:32583173|PMID:34805411|PMID:35052457|PMID:35118593|PMID:9267996 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:69093 D RGD:7240710 20180130 OMIM 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:69093 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10227563|PMID:10447526|PMID:10768098|PMID:10983627|PMID:12669197|PMID:15281001|PMID:16883527|PMID:16946562|PMID:18414213|PMID:21105491|PMID:23227446|PMID:23247789|PMID:23268925|PMID:24033266|PMID:24097065|PMID:25041077|PMID:25741868|PMID:25905084|PMID:26059258|PMID:26467025|PMID:26981542|PMID:27080136|PMID:27420379|PMID:27884173|PMID:28492532|PMID:29355436|PMID:29792621|PMID:30191603|PMID:31264968|PMID:31595705|PMID:34805411|PMID:35052457|PMID:35118593|PMID:36257325|PMID:9449683 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69093 D RGD:9068941 20200609 RGD DNA:SNP::rs4810424 and rs3212198 nominally associated with future risk of developing T2DM (p=0.04) in individuals from the Botnia study in Finland and the Malmo project in Sweden PMID:18332101|REF_RGD_ID:2301863 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69093 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:(human) PMID:18728231|REF_RGD_ID:2301836 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69093 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.T130I PMID:18028455|REF_RGD_ID:2301839 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9993 hypoglycemia ISO RGD:1550718 D RGD:9068941 20200609 RGD PMID:17407387|REF_RGD_ID:12904698 12401795 HNF4A hepatocyte nuclear factor 4 alpha gene DOID:9993 hypoglycemia ISO RGD:69093 D RGD:9068941 20200609 RGD associated with Hyperinsulinemia;DNA:frameshift mutation, nonsense mutation, splice-site mutation PMID:18268044|REF_RGD_ID:2301837 12401814 SLC17A9 solute carrier family 17 member 9 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1323655 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12401814 SLC17A9 solute carrier family 17 member 9 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1323655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12401814 SLC17A9 solute carrier family 17 member 9 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1323655 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12401814 SLC17A9 solute carrier family 17 member 9 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1323655 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12401814 SLC17A9 solute carrier family 17 member 9 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1323655 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12401814 SLC17A9 solute carrier family 17 member 9 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1323655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 12401814 SLC17A9 solute carrier family 17 member 9 gene DOID:630 genetic disease ISO RGD:1323655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401814 SLC17A9 solute carrier family 17 member 9 gene DOID:9006909 Porokeratosis, Disseminated Superficial Actinic, 8 ISO RGD:1323655 D RGD:7240710 20180130 OMIM 12401814 SLC17A9 solute carrier family 17 member 9 gene DOID:9006909 Porokeratosis, Disseminated Superficial Actinic, 8 ISO RGD:1323655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Porokeratosis 8, disseminated superficial actinic type PMID:25180256|PMID:25741868 12401833 PNMA2 PNMA family member 2 gene DOID:630 genetic disease ISO RGD:1316357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401849 RCC2 regulator of chromosome condensation 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603393 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12401849 RCC2 regulator of chromosome condensation 2 gene DOID:10283 prostate cancer ISO RGD:1603393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12401849 RCC2 regulator of chromosome condensation 2 gene DOID:630 genetic disease ISO RGD:1603393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401864 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:0050475 Weill-Marchesani syndrome ISO RGD:1618964 D RGD:9068941 20220825 MouseDO OMIM:277600 | OMIM:608328 | OMIM:613195 | OMIM:614819 12401864 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1318756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 12401864 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:0060648 anterior segment dysgenesis ISO RGD:1318756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:19836009|PMID:24940034|PMID:28492532|PMID:32499604 12401864 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:1070 primary open angle glaucoma IAGP D RGD:12801476 20230510 OMIA Glaucoma, primary open angle, ADAMTS17-related PMID:26474315|PMID:26277300|PMID:27192202|PMID:26456751|PMID:27681326|PMID:29287154|PMID:31131111|PMID:26945802|PMID:26683476|PMID:28176809 12401864 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:630 genetic disease ISO RGD:1318756 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12401864 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:9007188 Liver Neoplasms ISO RGD:1318756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12401864 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:9008508 Weill-Marchesani Syndrome 4 IAGP D RGD:12801476 20230510 OMIA Lens luxation PMID:5461252|PMID:314700|PMID:308725|PMID:5209417|PMID:2194357|PMID:17573382|PMID:15301758|PMID:18241019|PMID:20375329|PMID:11397217|PMID:6602414|PMID:6601878|PMID:19883465|PMID:6601667|PMID:6985238|PMID:6969820|PMID:5387868|PMID:22050825|PMID:23683021|PMID:24405506|PMID:24568806|PMID:15301763|PMID:26720482|PMID:29287154|PMID:30650096|PMID:34870369|PMID:28176809 12401864 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:9008508 Weill-Marchesani Syndrome 4 ISO RGD:1318756 D RGD:7240710 20180130 OMIM 12401864 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:9008508 Weill-Marchesani Syndrome 4 ISO RGD:1318756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 4 | ClinVar Annotator: match by term: Weill-Marchesani-like syndrome PMID:17576681|PMID:19836009|PMID:22486325|PMID:24940034|PMID:25741868|PMID:28492532|PMID:31848748|PMID:32616716|PMID:9536098 12401893 OSMR oncostatin M receptor gene DOID:0050639 primary cutaneous amyloidosis ISO RGD:1352311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12401893 OSMR oncostatin M receptor gene DOID:0080600 COVID-19 ISO RGD:1352311 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12401893 OSMR oncostatin M receptor gene DOID:0080930 primary localized cutaneous amyloidosis 1 ISO RGD:1352311 D RGD:7240710 20190327 OMIM 12401893 OSMR oncostatin M receptor gene DOID:0080930 primary localized cutaneous amyloidosis 1 ISO RGD:1352311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidosis, primary localized cutaneous, 1 PMID:18179886|PMID:19690585 12401893 OSMR oncostatin M receptor gene DOID:1790 malignant mesothelioma ISO RGD:1352311 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12401893 OSMR oncostatin M receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 12401893 OSMR oncostatin M receptor gene DOID:630 genetic disease ISO RGD:1352311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12401893 OSMR oncostatin M receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12401927 METTL26 methyltransferase like 26 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1603944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12401927 METTL26 methyltransferase like 26 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1603944 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12401927 METTL26 methyltransferase like 26 gene DOID:1826 epilepsy ISO RGD:1603944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12401927 METTL26 methyltransferase like 26 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12401927 METTL26 methyltransferase like 26 gene DOID:630 genetic disease ISO RGD:1603944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401937 DUSP21 dual specificity phosphatase 21 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12401937 DUSP21 dual specificity phosphatase 21 gene DOID:0080006 bone development disease ISO RGD:1343692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 12401937 DUSP21 dual specificity phosphatase 21 gene DOID:12849 autistic disorder ISO RGD:1343692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12401937 DUSP21 dual specificity phosphatase 21 gene DOID:630 genetic disease ISO RGD:1343692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401937 DUSP21 dual specificity phosphatase 21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12401937 DUSP21 dual specificity phosphatase 21 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1343692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:25972376|PMID:28492532 12401942 TMEM101 transmembrane protein 101 gene DOID:630 genetic disease ISO RGD:1601840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401950 TMEM107 transmembrane protein 107 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1603948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:25741868|PMID:27571260 12401950 TMEM107 transmembrane protein 107 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1603948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12401950 TMEM107 transmembrane protein 107 gene DOID:0080253 Meckel syndrome 13 ISO RGD:1603948 D RGD:7240710 20190315 OMIM 12401950 TMEM107 transmembrane protein 107 gene DOID:0080253 Meckel syndrome 13 ISO RGD:1603948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel syndrome 13 PMID:25741868|PMID:26123494|PMID:26595381 12401950 TMEM107 transmembrane protein 107 gene DOID:0080254 orofaciodigital syndrome XVI ISO RGD:1603948 D RGD:7240710 20190315 OMIM 12401950 TMEM107 transmembrane protein 107 gene DOID:0080254 orofaciodigital syndrome XVI ISO RGD:1603948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVI | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XVI PMID:25741868|PMID:26595381 12401950 TMEM107 transmembrane protein 107 gene DOID:0080600 COVID-19 ISO RGD:1603948 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12401950 TMEM107 transmembrane protein 107 gene DOID:12177 common variable immunodeficiency ISO RGD:1603948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12401950 TMEM107 transmembrane protein 107 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12401950 TMEM107 transmembrane protein 107 gene DOID:2729 dyskeratosis congenita ISO RGD:1603948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12401950 TMEM107 transmembrane protein 107 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1603948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12401950 TMEM107 transmembrane protein 107 gene DOID:630 genetic disease ISO RGD:1603948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401950 TMEM107 transmembrane protein 107 gene DOID:9003124 Labrune Syndrome ISO RGD:1603948 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts PMID:25741868|PMID:27571260|PMID:28177126|PMID:28492532|PMID:29260032|PMID:29970281|PMID:29984895|PMID:29984898|PMID:29996189|PMID:31521395|PMID:32342562|PMID:33029936 12401959 MPPED1 metallophosphoesterase domain containing 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1317908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12401959 MPPED1 metallophosphoesterase domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1317908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12401959 MPPED1 metallophosphoesterase domain containing 1 gene DOID:630 genetic disease ISO RGD:1317908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401977 CLRN3 clarin 3 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1603923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12401977 CLRN3 clarin 3 gene DOID:630 genetic disease ISO RGD:1603923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12401984 INSC INSC spindle orientation adaptor protein gene DOID:1059 intellectual disability ISO RGD:1606091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12401984 INSC INSC spindle orientation adaptor protein gene DOID:630 genetic disease ISO RGD:1606091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402016 COX19 cytochrome c oxidase assembly factor COX19 gene DOID:630 genetic disease ISO RGD:1604553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402034 PHF19 PHD finger protein 19 gene DOID:630 genetic disease ISO RGD:1321268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402050 NEDD1 NEDD1 gamma-tubulin ring complex targeting factor gene DOID:630 genetic disease ISO RGD:1317123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402080 TACO1 translational activator of cytochrome c oxidase I gene DOID:3652 Leigh disease ISO RGD:1602721 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19503089 12402080 TACO1 translational activator of cytochrome c oxidase I gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1602721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:19503089|PMID:20727754|PMID:25741868|PMID:28492532 12402080 TACO1 translational activator of cytochrome c oxidase I gene DOID:630 genetic disease ISO RGD:1602721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12402080 TACO1 translational activator of cytochrome c oxidase I gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:1602721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:19503089|PMID:20727754|PMID:25741868 12402080 TACO1 translational activator of cytochrome c oxidase I gene DOID:9007489 Mitochondrial Complex IV Deficiency, Nuclear Type 8 ISO RGD:1602721 D RGD:7240710 20201111 OMIM 12402080 TACO1 translational activator of cytochrome c oxidase I gene DOID:9007489 Mitochondrial Complex IV Deficiency, Nuclear Type 8 ISO RGD:1602721 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8 PMID:19503089|PMID:20727754|PMID:25044680|PMID:25741868|PMID:28492532 12402089 MIR363 microRNA mir-363 gene DOID:12849 autistic disorder ISO RGD:1604875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12402167 PLG plasminogen gene DOID:0060903 thrombosis ISO RGD:1343043 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868|PMID:28492532|PMID:34355501 12402167 PLG plasminogen gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1343043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:28492532 12402167 PLG plasminogen gene DOID:0080600 COVID-19 treatment ISO RGD:1343043 D RGD:9068941 20200619 RGD PMID:32275753|REF_RGD_ID:30309215 12402167 PLG plasminogen gene DOID:0080940 hereditary angioedema type III ISO RGD:1343043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HAE WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION PMID:33114181 12402167 PLG plasminogen gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1343043 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 12402167 PLG plasminogen gene DOID:0111592 plasminogen deficiency type I IAGP D RGD:12801476 20210818 OMIA Ligneous membranitis PMID:8875361|PMID:18312178|PMID:9604341|PMID:27152037|PMID:26840763|PMID:26360520|PMID:23898908|PMID:22890402|PMID:19604341|PMID:34370320 12402167 PLG plasminogen gene DOID:0111592 plasminogen deficiency type I ISO RGD:1343043 D RGD:7240710 20180130 OMIM 12402167 PLG plasminogen gene DOID:0111592 plasminogen deficiency type I ISO RGD:1343043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dysplasminogenemia | ClinVar Annotator: match by term: Plasminogen deficiency, type I PMID:10233898|PMID:12850227|PMID:12876630|PMID:12945885|PMID:1427790|PMID:15269832|PMID:16849641|PMID:17576681|PMID:1986355|PMID:20981092|PMID:22995991|PMID:2362977|PMID:23629776|PMID:25741868|PMID:26340456|PMID:2797673|PMID:27976734|PMID:28492532|PMID:30487145|PMID:31064749|PMID:31589614|PMID:31980526|PMID:34355501|PMID:6216475|PMID:6238949|PMID:659588|PMID:8392398|PMID:9242524|PMID:9375744|PMID:9536098|PMID:9834305|PMID:9858247 12402167 PLG plasminogen gene DOID:10159 osteonecrosis ISO RGD:1343043 D RGD:9068941 20200702 RGD associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) PMID:16547717|PMID:16677567|REF_RGD_ID:30309948|REF_RGD_ID:30309951 12402167 PLG plasminogen gene DOID:10754 otitis media ISO RGD:1343043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Otitis media, susceptibility to PMID:10233898|PMID:12850227|PMID:12876630|PMID:15269832|PMID:16849641|PMID:20981092|PMID:22995991|PMID:2362977|PMID:23629776|PMID:25741868|PMID:26340456|PMID:2797673|PMID:27976734|PMID:28492532|PMID:30487145|PMID:31064749|PMID:31589614|PMID:31980526|PMID:34355501 12402167 PLG plasminogen gene DOID:10763 hypertension ISO RGD:1343043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6383834 12402167 PLG plasminogen gene DOID:14735 hereditary angioedema ISO RGD:1343043 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary angioneurotic edema PMID:25741868|PMID:28492532|PMID:28795768|PMID:29548426|PMID:29952006|PMID:29987869|PMID:33799813|PMID:35100351 12402167 PLG plasminogen gene DOID:1485 cystic fibrosis ISO RGD:1343043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:17900274|PMID:18566672|PMID:28117099|PMID:9504411 12402167 PLG plasminogen gene DOID:2213 hemorrhagic disease ISO RGD:1343043 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:34355501 12402167 PLG plasminogen gene DOID:2452 thrombophilia ISO RGD:1343043 D RGD:9068941 20200609 RGD DNA:point mutation:exon:S572P PMID:8392398|REF_RGD_ID:1601404 12402167 PLG plasminogen gene DOID:2945 severe acute respiratory syndrome ISO RGD:1550861 D RGD:9068941 20200625 RGD protein:increased expression:lung (mouse) PMID:23919993|REF_RGD_ID:30310231 12402167 PLG plasminogen gene DOID:3021 acute kidney failure ISO RGD:1343043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12402167 PLG plasminogen gene DOID:3490 Noonan syndrome ISO RGD:1343043 D RGD:9068941 20200609 RGD protein:decreased activity:blood: PMID:20686427|REF_RGD_ID:13207331 12402167 PLG plasminogen gene DOID:6195 conjunctivitis ISO RGD:1343043 D RGD:9068941 20200609 RGD ligneous conjunctivitis,OMIM:217090;DNA:point mutation:exon:R216H,W597X PMID:9242524|REF_RGD_ID:1601405 12402167 PLG plasminogen gene DOID:630 genetic disease ISO RGD:1343043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12402167 PLG plasminogen gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343043 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14716496 12402167 PLG plasminogen gene DOID:9003871 Venous Thrombosis ISO RGD:1343043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:10233898|PMID:12850227|PMID:12876630|PMID:15269832|PMID:16849641|PMID:20981092|PMID:22995991|PMID:2362977|PMID:23629776|PMID:25741868|PMID:26340456|PMID:2797673|PMID:27976734|PMID:28492532|PMID:30487145|PMID:31064749|PMID:31589614|PMID:31980526|PMID:34355501 12402167 PLG plasminogen gene DOID:9004968 Yin Deficiency ISO RGD:619893 D RGD:9068941 20220915 RGD protein:decreased expression:serum PMID:29729385|REF_RGD_ID:153350148 12402167 PLG plasminogen gene DOID:9005017 Hereditary Angioedema 4 ISO RGD:1343043 D RGD:7240710 20210616 OMIM 12402167 PLG plasminogen gene DOID:9005017 Hereditary Angioedema 4 ISO RGD:1343043 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Angioedema, hereditary, 4 PMID:25741868|PMID:28492532|PMID:28795768|PMID:29548426|PMID:29952006|PMID:29987869|PMID:33114181|PMID:33799813|PMID:35100351 12402167 PLG plasminogen gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1343043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 12402167 PLG plasminogen gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1343043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22507835 12402167 PLG plasminogen gene DOID:9500 leukocyte disease ISO RGD:1343043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30213540 12402190 CCL27 C-C motif chemokine ligand 27 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1312228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12402190 CCL27 C-C motif chemokine ligand 27 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1312228 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12402190 CCL27 C-C motif chemokine ligand 27 gene DOID:0080600 COVID-19 severity ISO RGD:1312228 D RGD:9068941 20200618 RGD protein:increased expression:plasma (human) PMID:32360286|REF_RGD_ID:30309209 12402190 CCL27 C-C motif chemokine ligand 27 gene DOID:0080942 anauxetic dysplasia ISO RGD:1312228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12402190 CCL27 C-C motif chemokine ligand 27 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1312228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12402190 CCL27 C-C motif chemokine ligand 27 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1312228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12402190 CCL27 C-C motif chemokine ligand 27 gene DOID:1790 malignant mesothelioma ISO RGD:1312228 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 12402190 CCL27 C-C motif chemokine ligand 27 gene DOID:2773 contact dermatitis ISO RGD:1312228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12402190 CCL27 C-C motif chemokine ligand 27 gene DOID:2841 asthma ISO RGD:1312228 D RGD:9068941 20200609 RGD PMID:19541356|REF_RGD_ID:5130899 12402190 CCL27 C-C motif chemokine ligand 27 gene DOID:3310 atopic dermatitis ISO RGD:1312228 D RGD:9068941 20200609 RGD PMID:12642842|REF_RGD_ID:1626250 12402190 CCL27 C-C motif chemokine ligand 27 gene DOID:630 genetic disease ISO RGD:1312228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402190 CCL27 C-C motif chemokine ligand 27 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1312228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12402190 CCL27 C-C motif chemokine ligand 27 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1312228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12402190 CCL27 C-C motif chemokine ligand 27 gene DOID:9870 galactosemia ISO RGD:1312228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12402209 SMARCD3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 gene DOID:0080600 COVID-19 ISO RGD:1323550 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12402209 SMARCD3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1323550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 12402209 SMARCD3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 gene DOID:2843 long QT syndrome ISO RGD:1323550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 12402209 SMARCD3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 gene DOID:630 genetic disease ISO RGD:1323550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402209 SMARCD3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1311869 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:heart left ventricle PMID:23702776|REF_RGD_ID:9586349 12402234 DPP6 dipeptidyl peptidase like 6 gene DOID:0060041 autism spectrum disorder ISO RGD:68590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18252227|PMID:20844286 12402234 DPP6 dipeptidyl peptidase like 6 gene DOID:0060319 cardiac arrest ISO RGD:68590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest 12402234 DPP6 dipeptidyl peptidase like 6 gene DOID:0070063 autosomal dominant intellectual developmental disorder 33 ISO RGD:68590 D RGD:7240710 20180130 OMIM 12402234 DPP6 dipeptidyl peptidase like 6 gene DOID:0070063 autosomal dominant intellectual developmental disorder 33 ISO RGD:68590 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 33 PMID:23832105|PMID:25741868|PMID:34008892 12402234 DPP6 dipeptidyl peptidase like 6 gene DOID:1059 intellectual disability ISO RGD:68590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12402234 DPP6 dipeptidyl peptidase like 6 gene DOID:12377 spinal muscular atrophy susceptibility ISO RGD:68590 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs10260404) (human) PMID:19332697|REF_RGD_ID:5687182 12402234 DPP6 dipeptidyl peptidase like 6 gene DOID:12849 autistic disorder ISO RGD:68590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12402234 DPP6 dipeptidyl peptidase like 6 gene DOID:12930 dilated cardiomyopathy ISO RGD:68590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 12402234 DPP6 dipeptidyl peptidase like 6 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:68590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18084291 12402234 DPP6 dipeptidyl peptidase like 6 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:68590 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs10260404 (human) PMID:18708572|REF_RGD_ID:5687188 12402234 DPP6 dipeptidyl peptidase like 6 gene DOID:332 amyotrophic lateral sclerosis no_association ISO RGD:68590 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs10260404 (human) PMID:20137488|REF_RGD_ID:5687181 12402234 DPP6 dipeptidyl peptidase like 6 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:68590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 12402234 DPP6 dipeptidyl peptidase like 6 gene DOID:5419 schizophrenia ISO RGD:68590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12402234 DPP6 dipeptidyl peptidase like 6 gene DOID:9002426 Ventricular Fibrillation, Paroxysmal Familial, 2 ISO RGD:68590 D RGD:7240710 20180130 OMIM 12402234 DPP6 dipeptidyl peptidase like 6 gene DOID:9002426 Ventricular Fibrillation, Paroxysmal Familial, 2 ISO RGD:68590 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, 2 PMID:19285295|PMID:25741868 12402234 DPP6 dipeptidyl peptidase like 6 gene DOID:9004416 Paroxysmal Ventricular Fibrillation ISO RGD:68590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12402234 DPP6 dipeptidyl peptidase like 6 gene DOID:9004416 Paroxysmal Ventricular Fibrillation ISO RGD:68590 D RGD:9068941 20200609 RGD PMID:19285295|REF_RGD_ID:5687186 12402234 DPP6 dipeptidyl peptidase like 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12402234 DPP6 dipeptidyl peptidase like 6 gene DOID:9005141 Ventricular Tachycardia ISO RGD:68590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia 12402234 DPP6 dipeptidyl peptidase like 6 gene DOID:9007925 Sudden Cardiac Death ISO RGD:68590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death 12402234 DPP6 dipeptidyl peptidase like 6 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:68590 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:25741868 12402277 SULF2 sulfatase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1312895 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12402277 SULF2 sulfatase 2 gene DOID:2234 focal epilepsy ISO RGD:1312895 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12402277 SULF2 sulfatase 2 gene DOID:289 endometriosis ISO RGD:1312895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642|PMID:21063030 12402277 SULF2 sulfatase 2 gene DOID:630 genetic disease ISO RGD:1312895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402308 OAS3 2'-5'-oligoadenylate synthetase 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1347854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 12402308 OAS3 2'-5'-oligoadenylate synthetase 3 gene DOID:630 genetic disease ISO RGD:1347854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402308 OAS3 2'-5'-oligoadenylate synthetase 3 gene DOID:9001488 Human Influenza ISO RGD:1347854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12402328 GPR137B G protein-coupled receptor 137B gene DOID:1540 parathyroid carcinoma ISO RGD:1316484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12402328 GPR137B G protein-coupled receptor 137B gene DOID:630 genetic disease ISO RGD:1316484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402328 GPR137B G protein-coupled receptor 137B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12402339 PRELID1 PRELI domain containing 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12402339 PRELID1 PRELI domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:1604018 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12402339 PRELID1 PRELI domain containing 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1604018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12402339 PRELID1 PRELI domain containing 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1604018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 12402339 PRELID1 PRELI domain containing 1 gene DOID:630 genetic disease ISO RGD:1604018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402339 PRELID1 PRELI domain containing 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1604018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12402339 PRELID1 PRELI domain containing 1 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1604018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 12402348 TRAPPC1 trafficking protein particle complex subunit 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1322784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12402348 TRAPPC1 trafficking protein particle complex subunit 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1322784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12402348 TRAPPC1 trafficking protein particle complex subunit 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1322784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12402348 TRAPPC1 trafficking protein particle complex subunit 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1322784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12402348 TRAPPC1 trafficking protein particle complex subunit 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1322784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12402361 CLCC1 chloride channel CLIC like 1 gene DOID:0110355 retinitis pigmentosa 32 ISO RGD:1604384 D RGD:7240710 20200722 OMIM 12402361 CLCC1 chloride channel CLIC like 1 gene DOID:0110355 retinitis pigmentosa 32 ISO RGD:1604384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 32 PMID:16189710|PMID:28492532|PMID:30157172 12402361 CLCC1 chloride channel CLIC like 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1604384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12402361 CLCC1 chloride channel CLIC like 1 gene DOID:12849 autistic disorder ISO RGD:1604384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12402361 CLCC1 chloride channel CLIC like 1 gene DOID:630 genetic disease ISO RGD:1604384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12402361 CLCC1 chloride channel CLIC like 1 gene DOID:9000177 Chudley-Mccullough syndrome ISO RGD:1604384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chudley-McCullough syndrome PMID:24033266|PMID:25741868|PMID:28492532 12402361 CLCC1 chloride channel CLIC like 1 gene DOID:9004538 Hearing Loss ISO RGD:1604384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:30311386 12402395 WDR45B WD repeat domain 45B gene DOID:1059 intellectual disability ISO RGD:1350558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12402395 WDR45B WD repeat domain 45B gene DOID:630 genetic disease ISO RGD:1350558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402395 WDR45B WD repeat domain 45B gene DOID:9009173 Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures ISO RGD:1350558 D RGD:7240710 20190315 OMIM 12402395 WDR45B WD repeat domain 45B gene DOID:9009173 Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures ISO RGD:1350558 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures PMID:25741868|PMID:27431290|PMID:28492532 12402396 FBXO43 F-box protein 43 gene DOID:0111590 Cohen syndrome ISO RGD:1321003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12402396 FBXO43 F-box protein 43 gene DOID:0112353 spermatogenic failure 64 ISO RGD:1321003 D RGD:7240710 20220112 OMIM 12402396 FBXO43 F-box protein 43 gene DOID:0112353 spermatogenic failure 64 ISO RGD:1321003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 64 PMID:30878252|PMID:34052850|PMID:34595750 12402396 FBXO43 F-box protein 43 gene DOID:630 genetic disease ISO RGD:1321003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402396 FBXO43 F-box protein 43 gene DOID:9003492 Oocyte/Zygote/Embryo Maturation Arrest 12 ISO RGD:1321003 D RGD:7240710 20220112 OMIM 12402396 FBXO43 F-box protein 43 gene DOID:9003492 Oocyte/Zygote/Embryo Maturation Arrest 12 ISO RGD:1321003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 12 PMID:34052850|PMID:34595750 12402411 B4GALT2 beta-1,4-galactosyltransferase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1313336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532 12402411 B4GALT2 beta-1,4-galactosyltransferase 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12402411 B4GALT2 beta-1,4-galactosyltransferase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1313336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532 12402411 B4GALT2 beta-1,4-galactosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1313336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402425 AFG2A AFG2 AAA ATPase homolog A gene DOID:1826 epilepsy ISO RGD:1321404 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12402425 AFG2A AFG2 AAA ATPase homolog A gene DOID:5419 schizophrenia ISO RGD:1321404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12402425 AFG2A AFG2 AAA ATPase homolog A gene DOID:630 genetic disease ISO RGD:1321404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:25741868|PMID:26299366|PMID:28293831|PMID:28492532 12402425 AFG2A AFG2 AAA ATPase homolog A gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1321404 D RGD:7240710 20180130 OMIM 12402425 AFG2A AFG2 AAA ATPase homolog A gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1321404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:26299366|PMID:26467025|PMID:27683084|PMID:28293831|PMID:28492532|PMID:28513609|PMID:29343804|PMID:29389922|PMID:30552426|PMID:31912665|PMID:9536098 12402425 AFG2A AFG2 AAA ATPase homolog A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12402456 CA3 carbonic anhydrase 3 gene DOID:10316 pneumoconiosis ISO RGD:1353547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 12402456 CA3 carbonic anhydrase 3 gene DOID:630 genetic disease ISO RGD:1353547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402456 CA3 carbonic anhydrase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1332219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12402456 CA3 carbonic anhydrase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 12402456 CA3 carbonic anhydrase 3 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1332219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 12402456 CA3 carbonic anhydrase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1332219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12402456 CA3 carbonic anhydrase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12402456 CA3 carbonic anhydrase 3 gene DOID:9452 fatty liver disease ISO RGD:1332219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12402456 CA3 carbonic anhydrase 3 gene DOID:9970 obesity ISO RGD:1353547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12402467 USP3 ubiquitin specific peptidase 3 gene DOID:0060224 atrial fibrillation ISO RGD:1318862 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12402467 USP3 ubiquitin specific peptidase 3 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1318862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12402467 USP3 ubiquitin specific peptidase 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1318862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 12402467 USP3 ubiquitin specific peptidase 3 gene DOID:1227 neutropenia ISO RGD:1318862 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 12402467 USP3 ubiquitin specific peptidase 3 gene DOID:2717 Bloom syndrome ISO RGD:1318862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12402467 USP3 ubiquitin specific peptidase 3 gene DOID:630 genetic disease ISO RGD:1318862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402467 USP3 ubiquitin specific peptidase 3 gene DOID:9256 colorectal cancer ISO RGD:1318862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12402499 ADD1 adducin 1 gene DOID:10591 pre-eclampsia ISO RGD:733925 D RGD:9068941 20200609 RGD mRNA:increased expression:blood PMID:19731222|REF_RGD_ID:5147993 12402499 ADD1 adducin 1 gene DOID:10763 hypertension ISO RGD:2041 D RGD:9068941 20200609 RGD PMID:15474463|PMID:8543181|REF_RGD_ID:1302895|REF_RGD_ID:631736 12402499 ADD1 adducin 1 gene DOID:10763 hypertension ISO RGD:733925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15773232|PMID:19199261 12402499 ADD1 adducin 1 gene DOID:10763 hypertension ISO RGD:733925 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.G460W (human) PMID:9149697|REF_RGD_ID:1624953 12402499 ADD1 adducin 1 gene DOID:10825 essential hypertension ISO RGD:733925 D RGD:7240710 20180130 OMIM 12402499 ADD1 adducin 1 gene DOID:10825 essential hypertension ISO RGD:733925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension, salt-sensitive essential, susceptibility to PMID:10024330|PMID:10523341|PMID:11882573|PMID:12623934|PMID:14553962|PMID:18591455|PMID:19057513|PMID:22992668|PMID:23863317|PMID:9149697|PMID:9607177 12402499 ADD1 adducin 1 gene DOID:10908 hydrocephalus ISO RGD:10086 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 12402499 ADD1 adducin 1 gene DOID:11044 gastroschisis ISO RGD:733925 D RGD:9068941 20200609 RGD DNA:SNP: :p.G460W (human) PMID:17051589|REF_RGD_ID:5148000 12402499 ADD1 adducin 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:733925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12402499 ADD1 adducin 1 gene DOID:13809 familial combined hyperlipidemia ISO RGD:733925 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.Gly460Trp (human) PMID:11775124|REF_RGD_ID:1559299 12402499 ADD1 adducin 1 gene DOID:1856 cherubism ISO RGD:733925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12402499 ADD1 adducin 1 gene DOID:1936 atherosclerosis ISO RGD:733925 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G460W (human) PMID:17082469|REF_RGD_ID:5147995 12402499 ADD1 adducin 1 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:733925 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:rs4961(human) PMID:19838659|REF_RGD_ID:7174725 12402499 ADD1 adducin 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:2041 D RGD:9068941 20200609 RGD protein:decreased expression:forebrain, postsynaptic density PMID:11226670|REF_RGD_ID:5147998 12402499 ADD1 adducin 1 gene DOID:5844 myocardial infarction ISO RGD:733925 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G460W (human) PMID:17082469|REF_RGD_ID:5147995 12402499 ADD1 adducin 1 gene DOID:5844 myocardial infarction no_association ISO RGD:733925 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G460W (human) PMID:16420563|REF_RGD_ID:5148001 12402499 ADD1 adducin 1 gene DOID:630 genetic disease ISO RGD:733925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402499 ADD1 adducin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 12402499 ADD1 adducin 1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:733925 D RGD:9068941 20200609 RGD DNA:SNP: :p.G460W (human) PMID:16100725|REF_RGD_ID:5147996 12402499 ADD1 adducin 1 gene DOID:9008366 Meningococcal Infections ISO RGD:733925 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G460W (human) PMID:18679149|REF_RGD_ID:5147999 12402499 ADD1 adducin 1 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:733925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 12402541 CCNJL cyclin J like gene DOID:630 genetic disease ISO RGD:1606241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402554 EPHB4 EPH receptor B4 gene DOID:0070210 hereditary lymphedema IA ISO RGD:1353692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary lymphedema type I PMID:25741868|PMID:28492532|PMID:28687708|PMID:30760892 12402554 EPHB4 EPH receptor B4 gene DOID:0070212 hereditary lymphedema I ISO RGD:1353692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary lymphedema type I PMID:25741868|PMID:28492532|PMID:28687708|PMID:30760892 12402554 EPHB4 EPH receptor B4 gene DOID:0081030 central conducting lymphatic anomaly ISO RGD:1353692 D RGD:7240710 20190315 OMIM 12402554 EPHB4 EPH receptor B4 gene DOID:0081030 central conducting lymphatic anomaly ISO RGD:1353692 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT | ClinVar Annotator: match by term: Lymphatic malformation 7 PMID:25741868|PMID:27400125|PMID:28492532|PMID:28687708|PMID:29905864|PMID:30578106|PMID:32267001|PMID:33240318 12402554 EPHB4 EPH receptor B4 gene DOID:10316 pneumoconiosis ISO RGD:1353692 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 12402554 EPHB4 EPH receptor B4 gene DOID:11294 arteriovenous malformation ISO RGD:1353692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arteriovenous malformation PMID:25741868|PMID:28687708|PMID:30578106|PMID:30760892 12402554 EPHB4 EPH receptor B4 gene DOID:162 cancer ISO RGD:1353692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cancer 12402554 EPHB4 EPH receptor B4 gene DOID:264 hemangiopericytoma ISO RGD:1353692 D RGD:9068941 20221110 RGD mRNA,protein:decreased expression:anterior temporal lobe PMID:26951238|REF_RGD_ID:155663351 12402554 EPHB4 EPH receptor B4 gene DOID:2975 cystic kidney disease ISO RGD:1617630 D RGD:9068941 20220825 MouseDO 12402554 EPHB4 EPH receptor B4 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:1353692 D RGD:9068941 20220811 RGD mRNA,protein:increased expression:esophagus squamous epithelium (human) PMID:31885720|REF_RGD_ID:153300949 12402554 EPHB4 EPH receptor B4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12402554 EPHB4 EPH receptor B4 gene DOID:630 genetic disease ISO RGD:1353692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12402554 EPHB4 EPH receptor B4 gene DOID:6419 tetralogy of Fallot ISO RGD:1353692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:19597493|PMID:27760138 12402554 EPHB4 EPH receptor B4 gene DOID:9000970 Focal Nodular Hyperplasia ISO RGD:1353692 D RGD:9068941 20221110 RGD mRNA:decreased expression:liver PMID:23870033|REF_RGD_ID:155646133 12402554 EPHB4 EPH receptor B4 gene DOID:9002861 Capillary Malformation-Arteriovenous Malformation 2 ISO RGD:1353692 D RGD:7240710 20190315 OMIM 12402554 EPHB4 EPH receptor B4 gene DOID:9002861 Capillary Malformation-Arteriovenous Malformation 2 ISO RGD:1353692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 PMID:16199547|PMID:21348050|PMID:25741868|PMID:27400125|PMID:28492532|PMID:28687708|PMID:28730721|PMID:29444212|PMID:29905864|PMID:30578106|PMID:30760892|PMID:30819650 12402554 EPHB4 EPH receptor B4 gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:1583193 D RGD:9068941 20221201 RGD PMID:26670826|REF_RGD_ID:155663663 12402554 EPHB4 EPH receptor B4 gene DOID:9003879 Vein of Galen Aneurysm ISO RGD:1353692 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galen vein aneurysm PMID:30578106 12402554 EPHB4 EPH receptor B4 gene DOID:9005469 Capillary Malformation-Arteriovenous Malformation ISO RGD:1353692 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome PMID:25741868 12402554 EPHB4 EPH receptor B4 gene DOID:9007096 Stroke ISO RGD:1353692 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868 12402554 EPHB4 EPH receptor B4 gene DOID:9008939 Breast Neoplasms ISO RGD:1353692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23063927 12402575 INO80C INO80 complex subunit C gene DOID:1059 intellectual disability ISO RGD:1320959 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12402575 INO80C INO80 complex subunit C gene DOID:630 genetic disease ISO RGD:1320959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402591 PLPP7 phospholipid phosphatase 7 (inactive) gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1314085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12402591 PLPP7 phospholipid phosphatase 7 (inactive) gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1314085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 12402591 PLPP7 phospholipid phosphatase 7 (inactive) gene DOID:630 genetic disease ISO RGD:1314085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402597 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12402597 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1348364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 12402597 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1348364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12402597 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1348364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12402597 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1348364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 12402597 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1348364 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12402597 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:12849 autistic disorder ISO RGD:1348364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12402597 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:3070 high grade glioma disease_progression ISO RGD:1348364 D RGD:9068941 20200609 RGD PMID:27852048|REF_RGD_ID:13702476 12402597 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1348364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:24569458|PMID:26619011 12402597 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:1348364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:24569458|PMID:26619011 12402597 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:1348364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:24569458|PMID:26619011 12402597 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1348364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402597 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:8923 skin melanoma ISO RGD:1348364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:24569458|PMID:26619011 12402597 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:1348364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:24569458|PMID:26619011 12402597 ARAF A-Raf proto-oncogene, serine/threonine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:1348364 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12432273 12402617 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12402617 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:737617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12402617 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12402617 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:737617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12402617 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:737617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12402617 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:737617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12402617 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:737617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12402617 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:10652 Alzheimer's disease ISO RGD:737617 D RGD:9068941 20200609 RGD PMID:14746899|REF_RGD_ID:1642360 12402617 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:12849 autistic disorder ISO RGD:737617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12402617 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:1307 dementia ISO RGD:737617 D RGD:9068941 20200609 RGD associated with Parkinson Disease PMID:14746899|REF_RGD_ID:1642360 12402617 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:630 genetic disease ISO RGD:737617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402617 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:737617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12402617 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:9007993 Dehydration ISO RGD:3617 D RGD:9068941 20211112 RGD PMID:17412804|REF_RGD_ID:1642352 12402617 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:9970 obesity ISO RGD:3617 D RGD:9068941 20211112 RGD PMID:15012590|REF_RGD_ID:1642350 12402617 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:9970 obesity ISO RGD:737618 D RGD:9068941 20200609 RGD protein:increased expression:brainstem PMID:11680901|REF_RGD_ID:1642351 12402632 SIM2 SIM bHLH transcription factor 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1317540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12402632 SIM2 SIM bHLH transcription factor 2 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1317540 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12402632 SIM2 SIM bHLH transcription factor 2 gene DOID:1826 epilepsy ISO RGD:1317540 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12402632 SIM2 SIM bHLH transcription factor 2 gene DOID:630 genetic disease ISO RGD:1317540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402632 SIM2 SIM bHLH transcription factor 2 gene DOID:674 cleft palate ISO RGD:1317540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12203729 12402632 SIM2 SIM bHLH transcription factor 2 gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1317540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 12402632 SIM2 SIM bHLH transcription factor 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1317540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12203729 12402646 UPK3BL2 uroplakin 3B like 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2801955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12402646 UPK3BL2 uroplakin 3B like 2 gene DOID:630 genetic disease ISO RGD:2801955 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402656 MTFMT mitochondrial methionyl-tRNA formyltransferase gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1604246 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder PMID:24033266|PMID:25058219|PMID:25741868 12402656 MTFMT mitochondrial methionyl-tRNA formyltransferase gene DOID:0080448 developmental and epileptic encephalopathy 48 ISO RGD:1604246 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 48 PMID:22499348|PMID:23499752|PMID:24461907|PMID:25741868|PMID:27290639|PMID:28492532|PMID:30369941|PMID:32577402 12402656 MTFMT mitochondrial methionyl-tRNA formyltransferase gene DOID:0110935 nemaline myopathy 6 ISO RGD:1604246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055|PMID:28492532 12402656 MTFMT mitochondrial methionyl-tRNA formyltransferase gene DOID:0111491 combined oxidative phosphorylation deficiency 15 ISO RGD:1604246 D RGD:7240710 20180130 OMIM 12402656 MTFMT mitochondrial methionyl-tRNA formyltransferase gene DOID:0111491 combined oxidative phosphorylation deficiency 15 ISO RGD:1604246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 15 PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25326635|PMID:25326637|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30911575|PMID:32577402 12402656 MTFMT mitochondrial methionyl-tRNA formyltransferase gene DOID:0112090 nuclear type mitochondrial complex I deficiency 27 ISO RGD:1604246 D RGD:7240710 20190315 OMIM 12402656 MTFMT mitochondrial methionyl-tRNA formyltransferase gene DOID:0112090 nuclear type mitochondrial complex I deficiency 27 ISO RGD:1604246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30911575|PMID:32577402 12402656 MTFMT mitochondrial methionyl-tRNA formyltransferase gene DOID:10907 microcephaly ISO RGD:1604246 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12402656 MTFMT mitochondrial methionyl-tRNA formyltransferase gene DOID:2717 Bloom syndrome ISO RGD:1604246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12402656 MTFMT mitochondrial methionyl-tRNA formyltransferase gene DOID:3652 Leigh disease ISO RGD:1604246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30911575 12402656 MTFMT mitochondrial methionyl-tRNA formyltransferase gene DOID:630 genetic disease ISO RGD:1604246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25044680|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30911575|PMID:32577402 12402656 MTFMT mitochondrial methionyl-tRNA formyltransferase gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1604246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30911575 12402656 MTFMT mitochondrial methionyl-tRNA formyltransferase gene DOID:9007661 Dwarfism ISO RGD:1604246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short stature PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30911575 12402656 MTFMT mitochondrial methionyl-tRNA formyltransferase gene DOID:9256 colorectal cancer ISO RGD:1604246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12402670 MAFA MAF bZIP transcription factor A gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1557163 D RGD:9068941 20220825 MouseDO OMIM:606391 12402670 MAFA MAF bZIP transcription factor A gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1604438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12402670 MAFA MAF bZIP transcription factor A gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1604438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12402670 MAFA MAF bZIP transcription factor A gene DOID:4621 holoprosencephaly ISO RGD:1604438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12402670 MAFA MAF bZIP transcription factor A gene DOID:630 genetic disease ISO RGD:1604438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402670 MAFA MAF bZIP transcription factor A gene DOID:9000609 Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus ISO RGD:1604438 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus PMID:25741868 12402670 MAFA MAF bZIP transcription factor A gene DOID:9004540 Islet Cell Adenomatosis ISO RGD:1604438 D RGD:7240710 20200304 OMIM 12402670 MAFA MAF bZIP transcription factor A gene DOID:9004540 Islet Cell Adenomatosis ISO RGD:1604438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Islet cell adenomatosis PMID:25741868|PMID:29339498 12402670 MAFA MAF bZIP transcription factor A gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1557163 D RGD:9068941 20200609 RGD PMID:28487936|REF_RGD_ID:13506743 12402670 MAFA MAF bZIP transcription factor A gene DOID:9351 diabetes mellitus treatment ISO RGD:1562627 D RGD:9068941 20200609 RGD PMID:23801580|REF_RGD_ID:13506744 12402670 MAFA MAF bZIP transcription factor A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1557163 D RGD:9068941 20200609 RGD protein:decreased expression:beta cells of pancrea PMID:20424231|REF_RGD_ID:13506745 12402670 MAFA MAF bZIP transcription factor A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1557163 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 12402670 MAFA MAF bZIP transcription factor A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604438 D RGD:9068941 20200609 RGD protein:decreased expression:islet: PMID:24013263|REF_RGD_ID:13506742 12402696 SLC23A3 solute carrier family 23 member 3 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1345783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12402696 SLC23A3 solute carrier family 23 member 3 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1345783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12402696 SLC23A3 solute carrier family 23 member 3 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1345783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12402696 SLC23A3 solute carrier family 23 member 3 gene DOID:1148 polydactyly ISO RGD:1345783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 12402696 SLC23A3 solute carrier family 23 member 3 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1345783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12402696 SLC23A3 solute carrier family 23 member 3 gene DOID:630 genetic disease ISO RGD:1345783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402696 SLC23A3 solute carrier family 23 member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12402735 S100A5 S100 calcium binding protein A5 gene DOID:0111940 immunodeficiency 42 ISO RGD:1319090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12402735 S100A5 S100 calcium binding protein A5 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1319090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12402735 S100A5 S100 calcium binding protein A5 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1319090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12402735 S100A5 S100 calcium binding protein A5 gene DOID:1540 parathyroid carcinoma ISO RGD:1319090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12402735 S100A5 S100 calcium binding protein A5 gene DOID:3525 middle cerebral artery infarction ISO RGD:1319090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 12402735 S100A5 S100 calcium binding protein A5 gene DOID:5812 MHC class II deficiency ISO RGD:1319090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12402735 S100A5 S100 calcium binding protein A5 gene DOID:630 genetic disease ISO RGD:1319090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402735 S100A5 S100 calcium binding protein A5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12402775 TMEM17 transmembrane protein 17 gene DOID:0050777 Joubert syndrome ISO RGD:1321545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 12402775 TMEM17 transmembrane protein 17 gene DOID:0060316 orofaciodigital syndrome I ISO RGD:1321545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome I PMID:25741868|PMID:26982032 12402775 TMEM17 transmembrane protein 17 gene DOID:5419 schizophrenia ISO RGD:1321545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12402775 TMEM17 transmembrane protein 17 gene DOID:630 genetic disease ISO RGD:1321545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402775 TMEM17 transmembrane protein 17 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12402783 MAD2L1BP MAD2L1 binding protein gene DOID:0050444 infantile Refsum disease ISO RGD:1319368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12402783 MAD2L1BP MAD2L1 binding protein gene DOID:630 genetic disease ISO RGD:1319368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402783 MAD2L1BP MAD2L1 binding protein gene DOID:905 Zellweger syndrome ISO RGD:1319368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12402790 PHIP pleckstrin homology domain interacting protein gene DOID:0050888 syndromic intellectual disability ISO RGD:1345138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:27900362|PMID:28708303 12402790 PHIP pleckstrin homology domain interacting protein gene DOID:0060041 autism spectrum disorder ISO RGD:1345138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12402790 PHIP pleckstrin homology domain interacting protein gene DOID:1059 intellectual disability ISO RGD:1345138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:27479843|PMID:28263302|PMID:28492532|PMID:29209020 12402790 PHIP pleckstrin homology domain interacting protein gene DOID:12849 autistic disorder ISO RGD:1345138 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:25741868|PMID:28492532 12402790 PHIP pleckstrin homology domain interacting protein gene DOID:12894 Sjogren's syndrome ISO RGD:1345138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 12402790 PHIP pleckstrin homology domain interacting protein gene DOID:630 genetic disease ISO RGD:1345138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27479843|PMID:28263302|PMID:28492532|PMID:29209020|PMID:33004838 12402790 PHIP pleckstrin homology domain interacting protein gene DOID:9000949 DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES ISO RGD:1345138 D RGD:7240710 20190315 OMIM 12402790 PHIP pleckstrin homology domain interacting protein gene DOID:9000949 DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES ISO RGD:1345138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM | ClinVar Annotator: match by term: PHIP-Related Disorder PMID:16199547|PMID:23033978|PMID:25741868|PMID:27479843|PMID:27900362|PMID:28263302|PMID:28492532|PMID:29209020 12402790 PHIP pleckstrin homology domain interacting protein gene DOID:9002789 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE ISO RGD:1345138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE PMID:25741868|PMID:28492532 12402790 PHIP pleckstrin homology domain interacting protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345138 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12402790 PHIP pleckstrin homology domain interacting protein gene DOID:9008582 Developmental Disease ISO RGD:1345138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12402790 PHIP pleckstrin homology domain interacting protein gene DOID:9269 maple syrup urine disease ISO RGD:1345138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:16786533|PMID:22593002|PMID:24571530|PMID:28492532 12402834 PPFIA2 PTPRF interacting protein alpha 2 gene DOID:630 genetic disease ISO RGD:1312803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402871 GOT1L1 glutamic-oxaloacetic transaminase 1 like 1 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1602185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 12402871 GOT1L1 glutamic-oxaloacetic transaminase 1 like 1 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1602185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 12402871 GOT1L1 glutamic-oxaloacetic transaminase 1 like 1 gene DOID:607 paraplegia ISO RGD:1602185 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12402871 GOT1L1 glutamic-oxaloacetic transaminase 1 like 1 gene DOID:630 genetic disease ISO RGD:1602185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402890 NEK3 NIMA related kinase 3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1316605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12402890 NEK3 NIMA related kinase 3 gene DOID:1059 intellectual disability ISO RGD:1316605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12402890 NEK3 NIMA related kinase 3 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12402890 NEK3 NIMA related kinase 3 gene DOID:630 genetic disease ISO RGD:1316605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402902 TENT4B terminal nucleotidyltransferase 4B gene DOID:0111122 nephronophthisis 14 ISO RGD:1320003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 12402902 TENT4B terminal nucleotidyltransferase 4B gene DOID:630 genetic disease ISO RGD:1320003 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402924 NSUN2 NOP2/Sun RNA methyltransferase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 12402924 NSUN2 NOP2/Sun RNA methyltransferase 2 gene DOID:0081181 autosomal recessive intellectual developmental disorder 5 ISO RGD:1348039 D RGD:7240710 20180130 OMIM 12402924 NSUN2 NOP2/Sun RNA methyltransferase 2 gene DOID:0081181 autosomal recessive intellectual developmental disorder 5 ISO RGD:1348039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 5 PMID:17120046|PMID:17576681|PMID:18414213|PMID:21063731|PMID:22541559|PMID:22541562|PMID:22577224|PMID:25741868|PMID:28492532|PMID:32860008|PMID:33098347|PMID:9536098 12402924 NSUN2 NOP2/Sun RNA methyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1348039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25741868|PMID:28492532|PMID:33098347 12402924 NSUN2 NOP2/Sun RNA methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1348039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17120046|PMID:18414213|PMID:22541559|PMID:25741868|PMID:28492532|PMID:33098347 12402924 NSUN2 NOP2/Sun RNA methyltransferase 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1348039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12402948 DYNC1I2 dynein cytoplasmic 1 intermediate chain 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:732025 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12402948 DYNC1I2 dynein cytoplasmic 1 intermediate chain 2 gene DOID:630 genetic disease ISO RGD:732025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12402948 DYNC1I2 dynein cytoplasmic 1 intermediate chain 2 gene DOID:9005194 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES ISO RGD:732025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies PMID:25741868|PMID:31079899 12402948 DYNC1I2 dynein cytoplasmic 1 intermediate chain 2 gene DOID:9006351 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES ISO RGD:732025 D RGD:7240710 20190918 OMIM 12402948 DYNC1I2 dynein cytoplasmic 1 intermediate chain 2 gene DOID:9006351 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES ISO RGD:732025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and structural brain anomalies PMID:25741868|PMID:31079899 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:0050562 West syndrome treatment ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:24321005|REF_RGD_ID:9588540 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:732065 D RGD:7240710 20180130 OMIM 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:732065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:10407778|PMID:15642443|PMID:16199547|PMID:17576681|PMID:20052547|PMID:25640679|PMID:25738457|PMID:25741868|PMID:26467025|PMID:27596361|PMID:27903293|PMID:28411234|PMID:28492532|PMID:30617166|PMID:31133775|PMID:6148708|PMID:9536098 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:732065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PMM2-congenital disorder of glycosylation PMID:28492532 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:0080855 Parkinsonism treatment ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:22634324|REF_RGD_ID:9588554 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:732065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:10652 Alzheimer's disease ISO RGD:732065 D RGD:9068941 20200609 RGD PMID:1627256|REF_RGD_ID:10046060 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:10763 hypertension ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:1570022|REF_RGD_ID:1598531 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:11832 visual epilepsy ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:21935729|PMID:2753001|REF_RGD_ID:10047056|REF_RGD_ID:10047087 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:11832 visual epilepsy treatment ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:20109543|REF_RGD_ID:9588535 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:12849 autistic disorder ISO RGD:732065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15830322 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:12858 Huntington's disease ISO RGD:732065 D RGD:9068941 20200609 RGD PMID:6237280|REF_RGD_ID:10046047 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:12858 Huntington's disease treatment ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:152600|REF_RGD_ID:10047058 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:1596 depressive disorder ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:21914462|REF_RGD_ID:9588556 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:1824 status epilepticus ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:9344635|REF_RGD_ID:1598522 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:2538 Landau-Kleffner syndrome ISO RGD:732065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:2548 reflex epilepsy ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:9706369|REF_RGD_ID:1598520 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:326 ischemia ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:10375453|REF_RGD_ID:1598516 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:5679 retinal disease ISO RGD:1332048 D RGD:9068941 20200609 RGD PMID:18412635|REF_RGD_ID:9588533 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:5812 MHC class II deficiency ISO RGD:732065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:630 genetic disease ISO RGD:732065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:8534 gastroesophageal reflux disease ISO RGD:732065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552517 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:732065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552517 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:9001109 Anorexia ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:6534893|REF_RGD_ID:10047083 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:9001733 Tinnitus treatment ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:17221143|REF_RGD_ID:9588534 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:9002211 Hyperalgesia treatment ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:24890317|REF_RGD_ID:9588557 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:9005219 Abnormal Reflexes ISO RGD:732065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10407778 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:9005603 Muscle Hypotonia ISO RGD:732065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10407778 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:9005632 Cocaine-Related Disorders treatment ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:22128851|REF_RGD_ID:9588542 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:9846053|REF_RGD_ID:1598518 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:6445277|PMID:7740056|REF_RGD_ID:10047091|REF_RGD_ID:1598524 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:9008514 Psychomotor Disorders ISO RGD:732065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10407778 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:9008617 Lethargy ISO RGD:732065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10407778 12402998 ABAT 4-aminobutyrate aminotransferase gene DOID:9976 heroin dependence ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:10900239|REF_RGD_ID:10046064 12403021 SNX30 sorting nexin family member 30 gene DOID:630 genetic disease ISO RGD:1601789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12403038 NFKBIB NFKB inhibitor beta gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:732611 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12403038 NFKBIB NFKB inhibitor beta gene DOID:630 genetic disease ISO RGD:732611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12403038 NFKBIB NFKB inhibitor beta gene DOID:9352 type 2 diabetes mellitus ISO RGD:732611 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 12403052 FBXW12 F-box and WD repeat domain containing 12 gene DOID:630 genetic disease ISO RGD:1352427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12403052 FBXW12 F-box and WD repeat domain containing 12 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1352427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12403066 EPB41L1 erythrocyte membrane protein band 4.1 like 1 gene DOID:0070041 autosomal dominant intellectual developmental disorder 11 ISO RGD:733700 D RGD:7240710 20180130 OMIM 12403066 EPB41L1 erythrocyte membrane protein band 4.1 like 1 gene DOID:0070041 autosomal dominant intellectual developmental disorder 11 ISO RGD:733700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 11 PMID:11050113|PMID:19503082|PMID:21376300|PMID:25326635|PMID:25741868 12403066 EPB41L1 erythrocyte membrane protein band 4.1 like 1 gene DOID:1059 intellectual disability ISO RGD:733700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12403066 EPB41L1 erythrocyte membrane protein band 4.1 like 1 gene DOID:630 genetic disease ISO RGD:733700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12403130 TRIM55 tripartite motif containing 55 gene DOID:630 genetic disease ISO RGD:1603290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12403148 SLC38A9 solute carrier family 38 member 9 gene DOID:630 genetic disease ISO RGD:1604225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12403148 SLC38A9 solute carrier family 38 member 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12403148 SLC38A9 solute carrier family 38 member 9 gene DOID:9007188 Liver Neoplasms ISO RGD:1604225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12403183 SCML1 Scm polycomb group protein like 1 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1343784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12403183 SCML1 Scm polycomb group protein like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12403183 SCML1 Scm polycomb group protein like 1 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1343784 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:19780792|PMID:21770923|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684 12403183 SCML1 Scm polycomb group protein like 1 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1343784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12403183 SCML1 Scm polycomb group protein like 1 gene DOID:12849 autistic disorder ISO RGD:1343784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12403183 SCML1 Scm polycomb group protein like 1 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1343784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12403183 SCML1 Scm polycomb group protein like 1 gene DOID:630 genetic disease ISO RGD:1343784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12403183 SCML1 Scm polycomb group protein like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12403212 MAPK11 mitogen-activated protein kinase 11 gene DOID:0050700 cardiomyopathy ISO RGD:1319634 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10620750 12403212 MAPK11 mitogen-activated protein kinase 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1319634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12403212 MAPK11 mitogen-activated protein kinase 11 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1319634 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12403212 MAPK11 mitogen-activated protein kinase 11 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1319634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12403212 MAPK11 mitogen-activated protein kinase 11 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1319634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12403212 MAPK11 mitogen-activated protein kinase 11 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1319634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12403212 MAPK11 mitogen-activated protein kinase 11 gene DOID:1059 intellectual disability ISO RGD:1319634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12403212 MAPK11 mitogen-activated protein kinase 11 gene DOID:630 genetic disease ISO RGD:1319634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12403228 TEPSIN TEPSIN adaptor related protein complex 4 accessory protein gene DOID:630 genetic disease ISO RGD:1601823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12403245 CLDN20 claudin 20 gene DOID:630 genetic disease ISO RGD:1343820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12403252 GSDMD gasdermin D gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1316349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12403252 GSDMD gasdermin D gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1316349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12403252 GSDMD gasdermin D gene DOID:4621 holoprosencephaly ISO RGD:1316349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12403252 GSDMD gasdermin D gene DOID:630 genetic disease ISO RGD:1316349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12403280 SCAMP4 secretory carrier membrane protein 4 gene DOID:0081099 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies ISO RGD:1345872 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability-strabismus syndrome PMID:23620220|PMID:25558065|PMID:25741868|PMID:26842963|PMID:29796286|PMID:30296593|PMID:32214227|PMID:32860008 12403280 SCAMP4 secretory carrier membrane protein 4 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1345872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12403280 SCAMP4 secretory carrier membrane protein 4 gene DOID:1059 intellectual disability ISO RGD:1345872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12403280 SCAMP4 secretory carrier membrane protein 4 gene DOID:10907 microcephaly ISO RGD:1345872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12403280 SCAMP4 secretory carrier membrane protein 4 gene DOID:5339 cyclic hematopoiesis ISO RGD:1345872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 12403280 SCAMP4 secretory carrier membrane protein 4 gene DOID:630 genetic disease ISO RGD:1345872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12403280 SCAMP4 secretory carrier membrane protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12403290 ACY3 aminoacylase 3 gene DOID:1059 intellectual disability ISO RGD:1352202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12403290 ACY3 aminoacylase 3 gene DOID:630 genetic disease ISO RGD:1352202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12403290 ACY3 aminoacylase 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1352202 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12403290 ACY3 aminoacylase 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1352202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12403315 MYBPC2 myosin binding protein C2 gene DOID:12236 primary biliary cholangitis ISO RGD:1347644 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20639880 12403315 MYBPC2 myosin binding protein C2 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1347644 D RGD:9068941 20211008 RGD PMID:28302172|REF_RGD_ID:32716376 12403315 MYBPC2 myosin binding protein C2 gene DOID:630 genetic disease ISO RGD:1347644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12403339 MEX3B mex-3 RNA binding family member B gene DOID:2717 Bloom syndrome ISO RGD:1346115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12403339 MEX3B mex-3 RNA binding family member B gene DOID:630 genetic disease ISO RGD:1346115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12403339 MEX3B mex-3 RNA binding family member B gene DOID:9256 colorectal cancer ISO RGD:1346115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12403345 DPYS dihydropyrimidinase gene DOID:0111590 Cohen syndrome ISO RGD:68541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12403345 DPYS dihydropyrimidinase gene DOID:0111629 dihydropyrimidinase deficiency ISO RGD:68541 D RGD:7240710 20180130 OMIM 12403345 DPYS dihydropyrimidinase gene DOID:0111629 dihydropyrimidinase deficiency ISO RGD:68541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dihydropyrimidinase deficiency PMID:17383919|PMID:17576681|PMID:18075467|PMID:20362666|PMID:23732435|PMID:25741868|PMID:25915935|PMID:28492532|PMID:28642038|PMID:29054612|PMID:30384990|PMID:33179229|PMID:9266350|PMID:9536098|PMID:9718352 12403345 DPYS dihydropyrimidinase gene DOID:630 genetic disease ISO RGD:68541 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20362666|PMID:25741868|PMID:26244261|PMID:28492532|PMID:28642038 12403345 DPYS dihydropyrimidinase gene DOID:653 purine-pyrimidine metabolic disorder ISO RGD:68541 D RGD:9068941 20200609 RGD dihydropyrimidinuria PMID:9718352|REF_RGD_ID:1599001 12403345 DPYS dihydropyrimidinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12403363 BEAN1 brain expressed associated with NEDD4 1 gene DOID:0050980 spinocerebellar ataxia type 31 ISO RGD:4144982 D RGD:7240710 20190315 OMIM 12403363 BEAN1 brain expressed associated with NEDD4 1 gene DOID:0050980 spinocerebellar ataxia type 31 ISO RGD:4144982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 31 PMID:19878914 12403363 BEAN1 brain expressed associated with NEDD4 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:4144982 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12403363 BEAN1 brain expressed associated with NEDD4 1 gene DOID:0110255 cataract 5 multiple types ISO RGD:4144982 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 12403363 BEAN1 brain expressed associated with NEDD4 1 gene DOID:630 genetic disease ISO RGD:4144982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12403377 IAH1 isoamyl acetate hydrolyzing esterase 1 (putative) gene DOID:630 genetic disease ISO RGD:1605825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12403377 IAH1 isoamyl acetate hydrolyzing esterase 1 (putative) gene DOID:9001556 Neonatal Inflammatory Skin and Bowel Disease 1 ISO RGD:1605825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inflammatory skin and bowel disease, neonatal, 1 PMID:16199547|PMID:17576681|PMID:22010916|PMID:25741868|PMID:25804906|PMID:26683521|PMID:28492532|PMID:29560122|PMID:31060243|PMID:9536098 12403387 UBA5 ubiquitin like modifier activating enzyme 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1323296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24033266|PMID:25741868|PMID:27545674|PMID:27545681|PMID:27926783|PMID:28492532|PMID:28965491|PMID:29286531|PMID:33811063 12403387 UBA5 ubiquitin like modifier activating enzyme 5 gene DOID:0080424 developmental and epileptic encephalopathy 44 ISO RGD:1323296 D RGD:7240710 20190315 OMIM 12403387 UBA5 ubiquitin like modifier activating enzyme 5 gene DOID:0080424 developmental and epileptic encephalopathy 44 ISO RGD:1323296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 44 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 44 PMID:24033266|PMID:25741868|PMID:27545674|PMID:27545681|PMID:27926783|PMID:28492532|PMID:28965491|PMID:29286531|PMID:29663568|PMID:32371413|PMID:33811063 12403387 UBA5 ubiquitin like modifier activating enzyme 5 gene DOID:0111615 autosomal recessive spinocerebellar ataxia 24 ISO RGD:1323296 D RGD:7240710 20190315 OMIM 12403387 UBA5 ubiquitin like modifier activating enzyme 5 gene DOID:0111615 autosomal recessive spinocerebellar ataxia 24 ISO RGD:1323296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 24 PMID:24033266|PMID:25741868|PMID:26872069|PMID:27545674|PMID:27545681|PMID:27926783|PMID:28492532|PMID:28965491|PMID:29286531|PMID:33811063 12403387 UBA5 ubiquitin like modifier activating enzyme 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1323296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24033266|PMID:25741868|PMID:27545674|PMID:27545681|PMID:27926783|PMID:28492532|PMID:28965491|PMID:29286531|PMID:33811063 12403387 UBA5 ubiquitin like modifier activating enzyme 5 gene DOID:12712 nephronophthisis ISO RGD:1323296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:18371931|PMID:23559409|PMID:28492532 12403387 UBA5 ubiquitin like modifier activating enzyme 5 gene DOID:13580 cholestasis ISO RGD:1323296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12403387 UBA5 ubiquitin like modifier activating enzyme 5 gene DOID:630 genetic disease ISO RGD:1323296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:27653677|PMID:28492532|PMID:30287594|PMID:33853163 12403387 UBA5 ubiquitin like modifier activating enzyme 5 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1323296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12403387 UBA5 ubiquitin like modifier activating enzyme 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1323296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12403387 UBA5 ubiquitin like modifier activating enzyme 5 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1323296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12403387 UBA5 ubiquitin like modifier activating enzyme 5 gene DOID:9270 alkaptonuria ISO RGD:1323296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12403435 ZNF274 zinc finger protein 274 gene DOID:630 genetic disease ISO RGD:1347715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12403435 ZNF274 zinc finger protein 274 gene DOID:9002955 Nerve Degeneration ISO RGD:1314905 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18815271 12403525 TAS2R60 taste 2 receptor member 60 gene DOID:1909 melanoma ISO RGD:1347652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 12403525 TAS2R60 taste 2 receptor member 60 gene DOID:630 genetic disease ISO RGD:1347652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12403536 CD40LG CD40 ligand gene DOID:0050169 cutaneous lupus erythematosus ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 12403536 CD40LG CD40 ligand gene DOID:0050175 tick-borne encephalitis ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:16463218|REF_RGD_ID:11352252 12403536 CD40LG CD40 ligand gene DOID:0050185 erythema multiforme ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 12403536 CD40LG CD40 ligand gene DOID:0050589 inflammatory bowel disease ISO RGD:1615151 D RGD:9068941 20220825 MouseDO 12403536 CD40LG CD40 ligand gene DOID:0050731 vitamin B12 deficiency treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:16716410|REF_RGD_ID:2313422 12403536 CD40LG CD40 ligand gene DOID:0050873 follicular lymphoma ISO RGD:1352959 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:25582824|REF_RGD_ID:11344981 12403536 CD40LG CD40 ligand gene DOID:0060022 CD40 ligand deficiency ISO RGD:1352959 D RGD:7240710 20180130 OMIM 12403536 CD40LG CD40 ligand gene DOID:0060022 CD40 ligand deficiency ISO RGD:1352959 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hyper IgM immunodeficiency, X-linked | ClinVar Annotator: match by term: IMMUNODEFICIENCY 3 | ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:10366125|PMID:10484640|PMID:10559240|PMID:10651941|PMID:11038461|PMID:11158612|PMID:11850600|PMID:1385114|PMID:1427881|PMID:14514918|PMID:14641931|PMID:15319456|PMID:15358621|PMID:15623492|PMID:15924140|PMID:16019685|PMID:16169277|PMID:16199547|PMID:16509032|PMID:17146684|PMID:17351759|PMID:17553565|PMID:17576681|PMID:18342287|PMID:18805740|PMID:18955577|PMID:19575287|PMID:20301576|PMID:20591076|PMID:20625427|PMID:20652909|PMID:20981468|PMID:21465648|PMID:21543760|PMID:22009004|PMID:22193914|PMID:22750225|PMID:22928961|PMID:22963373|PMID:23622016|PMID:23653974|PMID:24123890|PMID:24402618|PMID:24768948|PMID:24929972|PMID:25215306|PMID:25541662|PMID:25741868|PMID:26545377|PMID:26997321|PMID:27189378|PMID:27324886|PMID:27484504|PMID:28492532|PMID:28916186|PMID:29077208|PMID:29525420|PMID:30053428|PMID:30405923|PMID:31117086|PMID:31179555|PMID:31331973|PMID:32888943|PMID:33060515|PMID:34335625|PMID:35572607|PMID:36478253|PMID:7586644|PMID:7678782|PMID:7679206|PMID:7679801|PMID:7717401|PMID:7906987|PMID:7907793|PMID:7916370|PMID:8094231|PMID:8550833|PMID:8889581|PMID:9150729|PMID:9536098|PMID:9605317|PMID:9746782 12403536 CD40LG CD40 ligand gene DOID:0060022 CD40 ligand deficiency disease_progression ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:21841160|REF_RGD_ID:5490298 12403536 CD40LG CD40 ligand gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12403536 CD40LG CD40 ligand gene DOID:0060825 Christianson syndrome ISO RGD:1352959 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12403536 CD40LG CD40 ligand gene DOID:0060903 thrombosis ISO RGD:1615151 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:21914625|REF_RGD_ID:5490522 12403536 CD40LG CD40 ligand gene DOID:0060903 thrombosis susceptibility ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:15306157|REF_RGD_ID:11352250 12403536 CD40LG CD40 ligand gene DOID:0060903 thrombosis treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:27085896|REF_RGD_ID:11344959 12403536 CD40LG CD40 ligand gene DOID:0070355 overactive bladder syndrome ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:19784793|REF_RGD_ID:7248423 12403536 CD40LG CD40 ligand gene DOID:0080162 lupus nephritis ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20726330|REF_RGD_ID:7248426 12403536 CD40LG CD40 ligand gene DOID:0080162 lupus nephritis ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:11751940|REF_RGD_ID:7248714 12403536 CD40LG CD40 ligand gene DOID:0080162 lupus nephritis treatment ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:12632425|PMID:15693003|REF_RGD_ID:7248439|REF_RGD_ID:7248710 12403536 CD40LG CD40 ligand gene DOID:0080162 lupus nephritis treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:13130474|REF_RGD_ID:7248600 12403536 CD40LG CD40 ligand gene DOID:0080544 hyper IgM syndrome ISO RGD:1352959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency with Hyper-IgM PMID:10484640|PMID:15358621|PMID:17351759|PMID:19575287|PMID:20301576|PMID:24402618|PMID:25541662|PMID:28492532|PMID:9746782 12403536 CD40LG CD40 ligand gene DOID:0080642 Middle East respiratory syndrome treatment ISO RGD:1615151 D RGD:9068941 20200626 RGD PMID:30911758|REF_RGD_ID:32716379 12403536 CD40LG CD40 ligand gene DOID:0081267 graft-versus-host disease ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:12970789|REF_RGD_ID:11352269 12403536 CD40LG CD40 ligand gene DOID:10223 dermatomyositis ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 12403536 CD40LG CD40 ligand gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9450802|REF_RGD_ID:11522717 12403536 CD40LG CD40 ligand gene DOID:10591 pre-eclampsia ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:blood platelet (human) PMID:23241952|REF_RGD_ID:11522719 12403536 CD40LG CD40 ligand gene DOID:10591 pre-eclampsia treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:26310940|REF_RGD_ID:11056772 12403536 CD40LG CD40 ligand gene DOID:10652 Alzheimer's disease ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:frontal cortex, astrocyte PMID:11755016|REF_RGD_ID:8547803 12403536 CD40LG CD40 ligand gene DOID:10652 Alzheimer's disease ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:11755016|REF_RGD_ID:8547803 12403536 CD40LG CD40 ligand gene DOID:10923 sickle cell anemia ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:24368019|REF_RGD_ID:11352270 12403536 CD40LG CD40 ligand gene DOID:10976 membranous glomerulonephritis treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:7564113|REF_RGD_ID:7248720 12403536 CD40LG CD40 ligand gene DOID:10976 membranous glomerulonephritis treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic PMID:17911451|REF_RGD_ID:7248430 12403536 CD40LG CD40 ligand gene DOID:1100 ovarian disease treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD associated with Autoimmune Diseases PMID:12574329|REF_RGD_ID:11531132 12403536 CD40LG CD40 ligand gene DOID:11054 urinary bladder cancer treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:16361570|REF_RGD_ID:7248437 12403536 CD40LG CD40 ligand gene DOID:1168 familial hyperlipidemia ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:21485068|REF_RGD_ID:5490594 12403536 CD40LG CD40 ligand gene DOID:11702 dysgammaglobulinemia ISO RGD:1352959 D RGD:9068941 20200609 RGD Hyper-IgM Immunodeficiency Syndrome HIGM1, OMIM:308230 PMID:7678782|REF_RGD_ID:1599480 12403536 CD40LG CD40 ligand gene DOID:11713 diabetic angiopathy ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14963650|REF_RGD_ID:2314223 12403536 CD40LG CD40 ligand gene DOID:1205 allergic disease ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12403536 CD40LG CD40 ligand gene DOID:12132 granulomatosis with polyangiitis ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:21411717|REF_RGD_ID:5490596 12403536 CD40LG CD40 ligand gene DOID:12134 factor VIII deficiency treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:11776297|REF_RGD_ID:11352263 12403536 CD40LG CD40 ligand gene DOID:12177 common variable immunodeficiency ISO RGD:1352959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:25741868 12403536 CD40LG CD40 ligand gene DOID:12361 Graves' disease treatment ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:8875745|REF_RGD_ID:8547747 12403536 CD40LG CD40 ligand gene DOID:12365 malaria severity ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:11485931|REF_RGD_ID:11352239 12403536 CD40LG CD40 ligand gene DOID:12449 aplastic anemia ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:22537155|REF_RGD_ID:11352267 12403536 CD40LG CD40 ligand gene DOID:12849 autistic disorder ISO RGD:1352959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12403536 CD40LG CD40 ligand gene DOID:1287 cardiovascular system disease ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:17314326|REF_RGD_ID:7248433 12403536 CD40LG CD40 ligand gene DOID:1287 cardiovascular system disease severity ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic;protein:increased expression:plasma PMID:21303961|REF_RGD_ID:7248722 12403536 CD40LG CD40 ligand gene DOID:12894 Sjogren's syndrome ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:salivary ductal epithelium (human) PMID:12472667|REF_RGD_ID:11520791 12403536 CD40LG CD40 ligand gene DOID:13133 HELLP syndrome ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:blood platelet (human) PMID:23241952|REF_RGD_ID:11522719 12403536 CD40LG CD40 ligand gene DOID:13139 crescentic glomerulonephritis treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:14569091|REF_RGD_ID:7248599 12403536 CD40LG CD40 ligand gene DOID:13241 Behcet's disease ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22116092|REF_RGD_ID:8547820 12403536 CD40LG CD40 ligand gene DOID:13378 Kawasaki disease treatment ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:12563087|REF_RGD_ID:11352236 12403536 CD40LG CD40 ligand gene DOID:13922 eosinophilic esophagitis ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:21211656|REF_RGD_ID:5490306 12403536 CD40LG CD40 ligand gene DOID:1485 cystic fibrosis ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:15102009|REF_RGD_ID:7248443 12403536 CD40LG CD40 ligand gene DOID:1588 thrombocytopenia treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD associated with Malaria PMID:11865192|REF_RGD_ID:11352243 12403536 CD40LG CD40 ligand gene DOID:1936 atherosclerosis ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21817131|REF_RGD_ID:7248421 12403536 CD40LG CD40 ligand gene DOID:1936 atherosclerosis ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:20705757|REF_RGD_ID:5490529 12403536 CD40LG CD40 ligand gene DOID:1936 atherosclerosis ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:16317521|REF_RGD_ID:1582628 12403536 CD40LG CD40 ligand gene DOID:1936 atherosclerosis treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:26261622|REF_RGD_ID:11344965 12403536 CD40LG CD40 ligand gene DOID:1936 atherosclerosis treatment ISO RGD:708418 D RGD:9068941 20200609 RGD associated with Hypercholesterolemia PMID:23984971|REF_RGD_ID:8547801 12403536 CD40LG CD40 ligand gene DOID:2224 essential thrombocythemia ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:22196954|REF_RGD_ID:11344979 12403536 CD40LG CD40 ligand gene DOID:224 transient cerebral ischemia severity ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:15795333|REF_RGD_ID:11352234 12403536 CD40LG CD40 ligand gene DOID:2527 nephrosis ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:19889873|REF_RGD_ID:7248422 12403536 CD40LG CD40 ligand gene DOID:2841 asthma severity ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:9502776|REF_RGD_ID:11352238 12403536 CD40LG CD40 ligand gene DOID:2988 antiphospholipid syndrome ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:16188945|REF_RGD_ID:11344980 12403536 CD40LG CD40 ligand gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20348957 12403536 CD40LG CD40 ligand gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:20348957|REF_RGD_ID:5490547 12403536 CD40LG CD40 ligand gene DOID:3388 periodontal disease ISO RGD:708418 D RGD:9068941 20200609 RGD mRNA:increased expression:lymph node, B cell, T cell PMID:20618701|REF_RGD_ID:5024938 12403536 CD40LG CD40 ligand gene DOID:3393 coronary artery disease ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16368305 12403536 CD40LG CD40 ligand gene DOID:3393 coronary artery disease ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:16494885|REF_RGD_ID:7248436 12403536 CD40LG CD40 ligand gene DOID:3393 coronary artery disease ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome;DNA:SNP: :rs4810485 (human) PMID:22645426|REF_RGD_ID:8547776 12403536 CD40LG CD40 ligand gene DOID:3393 coronary artery disease ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17635572|REF_RGD_ID:2314209 12403536 CD40LG CD40 ligand gene DOID:3393 coronary artery disease ISO RGD:708418 D RGD:9068941 20200609 RGD protein:increased expression:coronary artery, serum PMID:23819214|REF_RGD_ID:7248750 12403536 CD40LG CD40 ligand gene DOID:3407 carotid artery disease ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum PMID:16752185|REF_RGD_ID:2314211 12403536 CD40LG CD40 ligand gene DOID:3407 carotid artery disease disease_progression ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:platelet PMID:15817881|REF_RGD_ID:2314188 12403536 CD40LG CD40 ligand gene DOID:417 autoimmune disease ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15494542 12403536 CD40LG CD40 ligand gene DOID:417 autoimmune disease ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:11535630|PMID:21414847|REF_RGD_ID:5490595|REF_RGD_ID:8547751 12403536 CD40LG CD40 ligand gene DOID:4481 allergic rhinitis ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:lymphocyte PMID:19086656|REF_RGD_ID:8547782 12403536 CD40LG CD40 ligand gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:15458437|REF_RGD_ID:5508170 12403536 CD40LG CD40 ligand gene DOID:5050 Ehrlich tumor carcinoma treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:19269163|REF_RGD_ID:11352683 12403536 CD40LG CD40 ligand gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:21177803|REF_RGD_ID:5490598 12403536 CD40LG CD40 ligand gene DOID:552 pneumonia ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12403536 CD40LG CD40 ligand gene DOID:557 kidney disease treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:12969144|REF_RGD_ID:7248601 12403536 CD40LG CD40 ligand gene DOID:5844 myocardial infarction ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17635572|REF_RGD_ID:2314209 12403536 CD40LG CD40 ligand gene DOID:6000 congestive heart failure ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15716285|REF_RGD_ID:2314219 12403536 CD40LG CD40 ligand gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:1352959 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.G219R (human) PMID:21543760|REF_RGD_ID:5490593 12403536 CD40LG CD40 ligand gene DOID:630 genetic disease ISO RGD:1352959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15358621|PMID:28492532|PMID:8094231 12403536 CD40LG CD40 ligand gene DOID:635 acquired immunodeficiency syndrome treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:9499800|REF_RGD_ID:11344976 12403536 CD40LG CD40 ligand gene DOID:6364 migraine ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21331754|REF_RGD_ID:5490597 12403536 CD40LG CD40 ligand gene DOID:6432 pulmonary hypertension ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15302794 12403536 CD40LG CD40 ligand gene DOID:6432 pulmonary hypertension ISO RGD:708418 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:25998782|REF_RGD_ID:11344970 12403536 CD40LG CD40 ligand gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1352959 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 1 | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:10366125|PMID:10484640|PMID:10559240|PMID:10651941|PMID:11038461|PMID:11158612|PMID:11850600|PMID:1385114|PMID:1427881|PMID:14514918|PMID:14641931|PMID:15319456|PMID:15358621|PMID:15623492|PMID:15924140|PMID:16019685|PMID:16169277|PMID:16199547|PMID:16509032|PMID:17146684|PMID:17351759|PMID:17553565|PMID:17576681|PMID:18342287|PMID:18805740|PMID:18955577|PMID:19575287|PMID:20301576|PMID:20591076|PMID:20625427|PMID:20652909|PMID:20981468|PMID:21465648|PMID:21543760|PMID:22009004|PMID:22193914|PMID:22750225|PMID:22928961|PMID:22963373|PMID:23622016|PMID:23653974|PMID:24123890|PMID:24402618|PMID:24768948|PMID:24929972|PMID:25215306|PMID:25541662|PMID:25741868|PMID:26545377|PMID:26997321|PMID:27189378|PMID:27324886|PMID:27484504|PMID:28492532|PMID:28916186|PMID:29077208|PMID:29525420|PMID:30053428|PMID:30405923|PMID:31117086|PMID:31179555|PMID:31331973|PMID:32888943|PMID:33060515|PMID:34335625|PMID:35572607|PMID:36478253|PMID:7586644|PMID:7678782|PMID:7679206|PMID:7679801|PMID:7717401|PMID:7906987|PMID:7907793|PMID:7916370|PMID:8094231|PMID:8550833|PMID:8889581|PMID:9150729|PMID:9536098|PMID:9605317|PMID:9746782 12403536 CD40LG CD40 ligand gene DOID:684 hepatocellular carcinoma ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:19016771|REF_RGD_ID:2313413 12403536 CD40LG CD40 ligand gene DOID:783 end stage renal disease ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19019166|REF_RGD_ID:7248427 12403536 CD40LG CD40 ligand gene DOID:824 periodontitis ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:22523383|REF_RGD_ID:11352302 12403536 CD40LG CD40 ligand gene DOID:8283 peritonitis ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:15780086|REF_RGD_ID:7248438 12403536 CD40LG CD40 ligand gene DOID:8566 herpes simplex ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:11134274|REF_RGD_ID:8547770 12403536 CD40LG CD40 ligand gene DOID:8567 Hodgkin's lymphoma ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7621881|PMID:8656679 12403536 CD40LG CD40 ligand gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:708418 D RGD:9068941 20200609 RGD protein:decreased expression:ileum PMID:21240009|REF_RGD_ID:5490305 12403536 CD40LG CD40 ligand gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:16188945|REF_RGD_ID:11344980 12403536 CD40LG CD40 ligand gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, T lymphocyte (human) PMID:17654056|REF_RGD_ID:11344977 12403536 CD40LG CD40 ligand gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1615151 D RGD:9068941 20200609 RGD protein:decreased expression:serum (mouse) PMID:22537155|REF_RGD_ID:11352267 12403536 CD40LG CD40 ligand gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:18341638|REF_RGD_ID:11352237 12403536 CD40LG CD40 ligand gene DOID:8986 narcolepsy ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:21669245|REF_RGD_ID:11352261 12403536 CD40LG CD40 ligand gene DOID:9000469 Viral Myocarditis treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:19914091|PMID:9721703|REF_RGD_ID:13702885|REF_RGD_ID:13702888 12403536 CD40LG CD40 ligand gene DOID:9000469 Viral Myocarditis treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:11945021|REF_RGD_ID:13702886 12403536 CD40LG CD40 ligand gene DOID:9000528 Coronary Disease treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:23819214|REF_RGD_ID:7248750 12403536 CD40LG CD40 ligand gene DOID:9000656 Penetrating Wounds treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:25153915|REF_RGD_ID:11352274 12403536 CD40LG CD40 ligand gene DOID:9000784 Fibrosis treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:17823201|REF_RGD_ID:8547759 12403536 CD40LG CD40 ligand gene DOID:9000808 Hypercholesterolemia ISO RGD:708418 D RGD:9068941 20200609 RGD protein:increased expression:platelet (rat) PMID:21574786|REF_RGD_ID:7248754 12403536 CD40LG CD40 ligand gene DOID:9000808 Hypercholesterolemia treatment ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:18787388|REF_RGD_ID:7248428 12403536 CD40LG CD40 ligand gene DOID:9000808 Hypercholesterolemia treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:26950185|REF_RGD_ID:11344960 12403536 CD40LG CD40 ligand gene DOID:9000998 Brain Injuries ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:11755016|REF_RGD_ID:8547803 12403536 CD40LG CD40 ligand gene DOID:9000998 Brain Injuries treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:25972624|REF_RGD_ID:11344972 12403536 CD40LG CD40 ligand gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:19035311|REF_RGD_ID:5491179 12403536 CD40LG CD40 ligand gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Anxiety Disorders;protein:increased expression:serum PMID:20170788|REF_RGD_ID:5490548 12403536 CD40LG CD40 ligand gene DOID:9001686 Acute Coronary Syndrome treatment ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:31624788|REF_RGD_ID:21081509 12403536 CD40LG CD40 ligand gene DOID:9002153 Chronic Allograft Dysfunction treatment ISO RGD:708418 D RGD:9068941 20200609 RGD liver PMID:22826618|REF_RGD_ID:11352297 12403536 CD40LG CD40 ligand gene DOID:9002165 Diabetic Nephropathies ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:serum PMID:18756582|REF_RGD_ID:2314208 12403536 CD40LG CD40 ligand gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1352959 D RGD:9068941 20200609 RGD mouse-human chimeric gene in human PMID:20882050|REF_RGD_ID:11352235 12403536 CD40LG CD40 ligand gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1615151 D RGD:9068941 20200609 RGD mouse-human chimeric gene in human PMID:20882050|REF_RGD_ID:11352235 12403536 CD40LG CD40 ligand gene DOID:9002457 Experimental Arthritis ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:7689748|REF_RGD_ID:11352696 12403536 CD40LG CD40 ligand gene DOID:9002457 Experimental Arthritis ISO RGD:708418 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:22611405|REF_RGD_ID:11352298 12403536 CD40LG CD40 ligand gene DOID:9002457 Experimental Arthritis treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:27218142|REF_RGD_ID:11344958 12403536 CD40LG CD40 ligand gene DOID:9002549 Shock ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20490890|REF_RGD_ID:5490973 12403536 CD40LG CD40 ligand gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:20400704|REF_RGD_ID:4891397 12403536 CD40LG CD40 ligand gene DOID:9002928 Colonic Neoplasms ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:20378141|REF_RGD_ID:5490978 12403536 CD40LG CD40 ligand gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1352959 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12403536 CD40LG CD40 ligand gene DOID:9004009 Reperfusion Injury ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:20659085|REF_RGD_ID:5490531 12403536 CD40LG CD40 ligand gene DOID:9004009 Reperfusion Injury ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:12388354|REF_RGD_ID:5508171 12403536 CD40LG CD40 ligand gene DOID:9004203 Chromosome Breakage ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27634759 12403536 CD40LG CD40 ligand gene DOID:9004283 Transplant Rejection ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:22948742|REF_RGD_ID:7248420 12403536 CD40LG CD40 ligand gene DOID:9004283 Transplant Rejection ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:blood, T cell PMID:10949194|REF_RGD_ID:7248719 12403536 CD40LG CD40 ligand gene DOID:9004283 Transplant Rejection treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:15808676|REF_RGD_ID:8547783 12403536 CD40LG CD40 ligand gene DOID:9004283 Transplant Rejection treatment ISO RGD:708418 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:15016184|REF_RGD_ID:7248598 12403536 CD40LG CD40 ligand gene DOID:9004397 calcification of aortic valve treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:24374105|REF_RGD_ID:11352276 12403536 CD40LG CD40 ligand gene DOID:9004484 Sepsis ISO RGD:708418 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:20933523|REF_RGD_ID:11352671 12403536 CD40LG CD40 ligand gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:708418 D RGD:9068941 20200609 RGD protein:increased expression:platelet (rat) PMID:19237211|REF_RGD_ID:2312338 12403536 CD40LG CD40 ligand gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:21831422|REF_RGD_ID:11352661 12403536 CD40LG CD40 ligand gene DOID:9005749 Necrosis ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22295117 12403536 CD40LG CD40 ligand gene DOID:9005837 Cholangiofibrosis treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:23820408|REF_RGD_ID:11352285 12403536 CD40LG CD40 ligand gene DOID:9006332 Vascular Calcification ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Coronary Artery Disease PMID:16494885|REF_RGD_ID:7248436 12403536 CD40LG CD40 ligand gene DOID:9006623 Murine Acquired Immunodeficiency Syndrome treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:8642687|REF_RGD_ID:11520796 12403536 CD40LG CD40 ligand gene DOID:9006642 Experimental Autoimmune Uveoretinitis treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:15972638|REF_RGD_ID:8547777 12403536 CD40LG CD40 ligand gene DOID:9006646 Metabolic Syndrome ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:20006362|REF_RGD_ID:5490591 12403536 CD40LG CD40 ligand gene DOID:9006646 Metabolic Syndrome ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16423632|REF_RGD_ID:2314214 12403536 CD40LG CD40 ligand gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:17188497|REF_RGD_ID:5491181 12403536 CD40LG CD40 ligand gene DOID:9006709 Primary Graft Dysfunction treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:12244161|REF_RGD_ID:7248713 12403536 CD40LG CD40 ligand gene DOID:9006779 Discoid Lupus Erythematosus ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 12403536 CD40LG CD40 ligand gene DOID:9006939 Lyme Neuroborreliosis ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:16463218|REF_RGD_ID:11352252 12403536 CD40LG CD40 ligand gene DOID:9007102 Myocardial Ischemia ISO RGD:708418 D RGD:9068941 20200609 RGD protein:increased expression:myocardium (rat) PMID:19204010|REF_RGD_ID:11352684 12403536 CD40LG CD40 ligand gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:19565716|REF_RGD_ID:11352677 12403536 CD40LG CD40 ligand gene DOID:9007110 Subacute Combined Degeneration ISO RGD:708418 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:16716410|REF_RGD_ID:2313422 12403536 CD40LG CD40 ligand gene DOID:9007110 Subacute Combined Degeneration treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:16716410|REF_RGD_ID:2313422 12403536 CD40LG CD40 ligand gene DOID:9007355 Hashimoto Disease ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17558708|REF_RGD_ID:8547767 12403536 CD40LG CD40 ligand gene DOID:9007823 Chromosome Xq26.3 Duplication Syndrome ISO RGD:1352959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome PMID:25712922|PMID:26935837 12403536 CD40LG CD40 ligand gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:11359850|REF_RGD_ID:8547800 12403536 CD40LG CD40 ligand gene DOID:9074 systemic lupus erythematosus ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28793932 12403536 CD40LG CD40 ligand gene DOID:9074 systemic lupus erythematosus ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20726330|REF_RGD_ID:7248426 12403536 CD40LG CD40 ligand gene DOID:9074 systemic lupus erythematosus ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:9036998|REF_RGD_ID:11352248 12403536 CD40LG CD40 ligand gene DOID:9074 systemic lupus erythematosus ISO RGD:1615151 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12403536 CD40LG CD40 ligand gene DOID:9146 visceral leishmaniasis ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:14573667|REF_RGD_ID:8547750 12403536 CD40LG CD40 ligand gene DOID:9182 pemphigus ISO RGD:1352959 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:skin, serum PMID:17531537|REF_RGD_ID:8547773 12403536 CD40LG CD40 ligand gene DOID:9201 lichen planus ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 12403536 CD40LG CD40 ligand gene DOID:9351 diabetes mellitus ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Coronary Arteriosclerosis, Myocardial Infarction; protein:increased expression:serum PMID:17635572|REF_RGD_ID:2314209 12403536 CD40LG CD40 ligand gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with non-alcoholic steatohepatitis;mRNA:increased expression:visceral abdominal adipose tissue PMID:19280268|REF_RGD_ID:5688143 12403536 CD40LG CD40 ligand gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16423632|REF_RGD_ID:2314214 12403536 CD40LG CD40 ligand gene DOID:9538 multiple myeloma disease_progression ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:27243341|REF_RGD_ID:11352268 12403536 CD40LG CD40 ligand gene DOID:9538 multiple myeloma treatment ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:22403003|REF_RGD_ID:11352251 12403536 CD40LG CD40 ligand gene DOID:9538 multiple myeloma treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:15565183|REF_RGD_ID:11352240 12403536 CD40LG CD40 ligand gene DOID:9744 type 1 diabetes mellitus ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16505242|REF_RGD_ID:2314212 12403536 CD40LG CD40 ligand gene DOID:9744 type 1 diabetes mellitus ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:15448088|REF_RGD_ID:2314220 12403536 CD40LG CD40 ligand gene DOID:9744 type 1 diabetes mellitus ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:16611325|REF_RGD_ID:5491182 12403536 CD40LG CD40 ligand gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:26716812|REF_RGD_ID:11344963 12403536 CD40LG CD40 ligand gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:12419284|REF_RGD_ID:8547798 12403536 CD40LG CD40 ligand gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:9292526|REF_RGD_ID:11352271 12403536 CD40LG CD40 ligand gene DOID:9970 obesity ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20660932|REF_RGD_ID:5490970 12403536 CD40LG CD40 ligand gene DOID:9970 obesity ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:21817098|REF_RGD_ID:5490592 12403550 AAK1 AP2 associated kinase 1 gene DOID:0050591 tooth agenesis ISO RGD:1313595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tooth agenesis 12403550 AAK1 AP2 associated kinase 1 gene DOID:630 genetic disease ISO RGD:1313595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12403584 LOC476356 putative serine protease 47 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:9586643 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 12403584 LOC476356 putative serine protease 47 gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:9586643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 12403584 LOC476356 putative serine protease 47 gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:9586643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 12403598 IQCA1 IQ motif containing with AAA domain 1 gene DOID:1059 intellectual disability ISO RGD:1349054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12403598 IQCA1 IQ motif containing with AAA domain 1 gene DOID:630 genetic disease ISO RGD:1349054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12403598 IQCA1 IQ motif containing with AAA domain 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1349054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12403621 CBX5 chromobox 5 gene DOID:10283 prostate cancer ISO RGD:1315340 D RGD:9068941 20200609 RGD protein:increased expression:prostate: PMID:18436254|REF_RGD_ID:9586744 12403621 CBX5 chromobox 5 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1315340 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung: PMID:22900142|REF_RGD_ID:9586743 12403621 CBX5 chromobox 5 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315340 D RGD:9068941 20200609 RGD associated with Lung Neoplasms; PMID:22900142|REF_RGD_ID:9586743 12403621 CBX5 chromobox 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12403621 CBX5 chromobox 5 gene DOID:9005172 Lung Neoplasms ISO RGD:1315340 D RGD:9068941 20200609 RGD PMID:22900142|REF_RGD_ID:9586743 12403621 CBX5 chromobox 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 12403641 GMNN geminin DNA replication inhibitor gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1317736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:11477602|PMID:14973488|PMID:26637980 12403641 GMNN geminin DNA replication inhibitor gene DOID:0080517 Meier-Gorlin syndrome 6 ISO RGD:1317736 D RGD:7240710 20190424 OMIM 12403641 GMNN geminin DNA replication inhibitor gene DOID:0080517 Meier-Gorlin syndrome 6 ISO RGD:1317736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 6 PMID:11477602|PMID:14973488|PMID:25741868|PMID:26637980 12403641 GMNN geminin DNA replication inhibitor gene DOID:630 genetic disease ISO RGD:1317736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12403641 GMNN geminin DNA replication inhibitor gene DOID:684 hepatocellular carcinoma ISO RGD:1317736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12403655 LOC482175 transmembrane protease serine 11B-like protein gene DOID:630 genetic disease ISO RGD:1606722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12403655 LOC482175 transmembrane protease serine 11B-like protein gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1606722 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12403668 STEAP4 STEAP4 metalloreductase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12403668 STEAP4 STEAP4 metalloreductase gene DOID:630 genetic disease ISO RGD:1347045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12403668 STEAP4 STEAP4 metalloreductase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347045 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12403668 STEAP4 STEAP4 metalloreductase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347045 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25320179 12403679 FAM89B family with sequence similarity 89 member B gene DOID:1059 intellectual disability ISO RGD:1606565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12403679 FAM89B family with sequence similarity 89 member B gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12403679 FAM89B family with sequence similarity 89 member B gene DOID:2746 glycogen storage disease V ISO RGD:1606565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12403679 FAM89B family with sequence similarity 89 member B gene DOID:3070 high grade glioma ISO RGD:1606565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12403679 FAM89B family with sequence similarity 89 member B gene DOID:630 genetic disease ISO RGD:1606565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12403679 FAM89B family with sequence similarity 89 member B gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1606565 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12403679 FAM89B family with sequence similarity 89 member B gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1606565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 12403685 ME3 malic enzyme 3 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1322332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 12403685 ME3 malic enzyme 3 gene DOID:1059 intellectual disability ISO RGD:1322332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12403685 ME3 malic enzyme 3 gene DOID:630 genetic disease ISO RGD:1322332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12403710 STAG1 STAG1 cohesin complex component gene DOID:0080238 autosomal dominant intellectual developmental disorder 47 ISO RGD:1321827 D RGD:7240710 20190315 OMIM 12403710 STAG1 STAG1 cohesin complex component gene DOID:0080238 autosomal dominant intellectual developmental disorder 47 ISO RGD:1321827 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 47 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 | ClinVar Annotator: match by term: STAG1-Related Disorders | ClinVar Annotator: match by term: STAG1-related disorder PMID:25741868|PMID:25748820|PMID:28119487|PMID:28492532|PMID:30158690 12403710 STAG1 STAG1 cohesin complex component gene DOID:1059 intellectual disability ISO RGD:1321827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28119487 12403710 STAG1 STAG1 cohesin complex component gene DOID:5426 primary ovarian insufficiency ISO RGD:1321827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12403710 STAG1 STAG1 cohesin complex component gene DOID:630 genetic disease ISO RGD:1321827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25748820|PMID:28119487|PMID:28492532 12403710 STAG1 STAG1 cohesin complex component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12403710 STAG1 STAG1 cohesin complex component gene DOID:9008086 Developmental Disabilities ISO RGD:1321827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741896 12403710 STAG1 STAG1 cohesin complex component gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1321827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12403748 AP1B1 adaptor related protein complex 1 subunit beta 1 gene DOID:0050144 Kartagener syndrome ISO RGD:737610 D RGD:9068941 20220825 MouseDO 12403748 AP1B1 adaptor related protein complex 1 subunit beta 1 gene DOID:0050545 visceral heterotaxy ISO RGD:737610 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 12403748 AP1B1 adaptor related protein complex 1 subunit beta 1 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1350470 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 12403748 AP1B1 adaptor related protein complex 1 subunit beta 1 gene DOID:630 genetic disease ISO RGD:1350470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:30367527 12403748 AP1B1 adaptor related protein complex 1 subunit beta 1 gene DOID:9001276 Failure to Thrive ISO RGD:1350470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 12403748 AP1B1 adaptor related protein complex 1 subunit beta 1 gene DOID:9007169 Ichthyosiform Erythroderma, Corneal Involvement, Deafness ISO RGD:1350470 D RGD:7240710 20200422 OMIM 12403748 AP1B1 adaptor related protein complex 1 subunit beta 1 gene DOID:9007169 Ichthyosiform Erythroderma, Corneal Involvement, Deafness ISO RGD:1350470 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autosomal recessive keratitis-ichthyosis-deafness syndrome PMID:25741868|PMID:31630788|PMID:31630791|PMID:32969855|PMID:33349978|PMID:33452671|PMID:35144013 12403748 AP1B1 adaptor related protein complex 1 subunit beta 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1350470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 12403748 AP1B1 adaptor related protein complex 1 subunit beta 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:737610 D RGD:9068941 20220825 MouseDO 12403788 DOCK2 dedicator of cytokinesis 2 gene DOID:0111951 immunodeficiency 40 ISO RGD:1323174 D RGD:7240710 20180130 OMIM 12403788 DOCK2 dedicator of cytokinesis 2 gene DOID:0111951 immunodeficiency 40 ISO RGD:1323174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:16199547|PMID:17576681|PMID:25741868|PMID:26083206|PMID:28492532|PMID:29204803|PMID:9536098 12403788 DOCK2 dedicator of cytokinesis 2 gene DOID:10283 prostate cancer ISO RGD:1323174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12403788 DOCK2 dedicator of cytokinesis 2 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1323174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 12403788 DOCK2 dedicator of cytokinesis 2 gene DOID:630 genetic disease ISO RGD:1323174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12403788 DOCK2 dedicator of cytokinesis 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1323174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12403845 FKBP10 FKBP prolyl isomerase 10 gene DOID:0060231 Bruck syndrome ISO RGD:1319279 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Bruck syndrome PMID:25741868 12403845 FKBP10 FKBP prolyl isomerase 10 gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:1319279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:25741868 12403845 FKBP10 FKBP prolyl isomerase 10 gene DOID:0110348 osteogenesis imperfecta type 12 ISO RGD:1319279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 12 PMID:20362275|PMID:20839288|PMID:21567934|PMID:22107750|PMID:22689593|PMID:22949511|PMID:25741868|PMID:26538303|PMID:27509835|PMID:27717089|PMID:27762305|PMID:28492532 12403845 FKBP10 FKBP prolyl isomerase 10 gene DOID:0110351 osteogenesis imperfecta type 11 ISO RGD:1319279 D RGD:7240710 20180130 OMIM 12403845 FKBP10 FKBP prolyl isomerase 10 gene DOID:0110351 osteogenesis imperfecta type 11 ISO RGD:1319279 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 11 PMID:20362275|PMID:20839288|PMID:21567934|PMID:22689593|PMID:22949511|PMID:25741868|PMID:26538303|PMID:27362741|PMID:27509835|PMID:27717089|PMID:27762305|PMID:28492532|PMID:30715774|PMID:9129737 12403845 FKBP10 FKBP prolyl isomerase 10 gene DOID:12347 osteogenesis imperfecta ISO RGD:1319279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:17576681|PMID:20839288|PMID:22949511|PMID:25741868|PMID:26538303|PMID:28492532|PMID:30715774|PMID:9481655|PMID:9536098|PMID:9927692 12403845 FKBP10 FKBP prolyl isomerase 10 gene DOID:630 genetic disease ISO RGD:1319279 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12403845 FKBP10 FKBP prolyl isomerase 10 gene DOID:9002589 Bone Fractures ISO RGD:1319279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent fractures PMID:20362275|PMID:20839288|PMID:21567934|PMID:22689593|PMID:22949511|PMID:25741868|PMID:26538303|PMID:27509835|PMID:27717089|PMID:27762305|PMID:28492532 12403845 FKBP10 FKBP prolyl isomerase 10 gene DOID:9003358 Kyphosis ISO RGD:1319279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kyphosis PMID:20362275|PMID:20839288|PMID:21567934|PMID:22689593|PMID:22949511|PMID:25741868|PMID:26538303|PMID:27509835|PMID:27717089|PMID:27762305|PMID:28492532 12403845 FKBP10 FKBP prolyl isomerase 10 gene DOID:9007227 Bruck Syndrome 1 ISO RGD:1319279 D RGD:7240710 20180130 OMIM 12403845 FKBP10 FKBP prolyl isomerase 10 gene DOID:9007227 Bruck Syndrome 1 ISO RGD:1319279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bruck syndrome 1 PMID:20362275|PMID:20696291|PMID:20839288|PMID:21567934|PMID:22689593|PMID:22949511|PMID:23712425|PMID:25741868|PMID:26538303|PMID:27509835|PMID:27717089|PMID:27762305|PMID:28492532|PMID:30715774|PMID:9129737|PMID:9481655|PMID:9927692 12403845 FKBP10 FKBP prolyl isomerase 10 gene DOID:9007661 Dwarfism ISO RGD:1319279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:20362275|PMID:20839288|PMID:21567934|PMID:22689593|PMID:22949511|PMID:25741868|PMID:26538303|PMID:27509835|PMID:27717089|PMID:27762305|PMID:28492532 12403859 FOXP3 forkhead box P3 gene DOID:0050200 Korean hemorrhagic fever ISO RGD:1562112 D RGD:9068941 20200910 RGD mRNA:increased expression:lung PMID:17878294|REF_RGD_ID:2325989 12403859 FOXP3 forkhead box P3 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1348507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23962110 12403859 FOXP3 forkhead box P3 gene DOID:0050523 adult T-cell leukemia/lymphoma disease_progression ISO RGD:1348507 D RGD:9068941 20200813 RGD PMID:23797717|REF_RGD_ID:38456007 12403859 FOXP3 forkhead box P3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12403859 FOXP3 forkhead box P3 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1348507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:24258212|PMID:25741868|PMID:28492532 12403859 FOXP3 forkhead box P3 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1348507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12403859 FOXP3 forkhead box P3 gene DOID:0081267 graft-versus-host disease treatment ISO RGD:1562112 D RGD:9068941 20200910 RGD PMID:22344929|REF_RGD_ID:38599140 12403859 FOXP3 forkhead box P3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1348507 D RGD:7240710 20180130 OMIM 12403859 FOXP3 forkhead box P3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1348507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:10706361|PMID:11120765|PMID:11137992|PMID:11137993|PMID:11295725|PMID:11768393|PMID:12161590|PMID:14671208|PMID:15096376|PMID:16199547|PMID:16630773|PMID:16741580|PMID:16920951|PMID:17576681|PMID:17586580|PMID:17635943|PMID:18414213|PMID:18795917|PMID:18820676|PMID:18931102|PMID:18951619|PMID:19189134|PMID:19471859|PMID:19633572|PMID:20537998|PMID:20650610|PMID:21036387|PMID:22000569|PMID:22581967|PMID:22590469|PMID:23313429|PMID:24033266|PMID:24250806|PMID:24258212|PMID:24792626|PMID:24916357|PMID:24982679|PMID:25326164|PMID:25363768|PMID:25546394|PMID:25741868|PMID:25911531|PMID:26467025|PMID:26661331|PMID:26748374|PMID:26748735|PMID:27167055|PMID:28289675|PMID:28492532|PMID:28778586|PMID:28783662|PMID:28993341|PMID:29193502|PMID:29241729|PMID:29896738|PMID:29907148|PMID:30191644|PMID:30293990|PMID:30385752|PMID:30443250|PMID:30510991|PMID:30805323|PMID:30894704|PMID:31027649|PMID:31130284|PMID:31990476|PMID:32279225|PMID:32531870|PMID:33046911|PMID:33194927|PMID:33523441|PMID:33637067|PMID:33833438|PMID:34216291|PMID:9536098 12403859 FOXP3 forkhead box P3 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1348507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12403859 FOXP3 forkhead box P3 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1348507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12403859 FOXP3 forkhead box P3 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1348507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12403859 FOXP3 forkhead box P3 gene DOID:106 pleural tuberculosis disease_progression ISO RGD:1348507 D RGD:9068941 20200806 RGD associated with human immunodeficiency virus infectious disease; PMID:21303360|REF_RGD_ID:36947878 12403859 FOXP3 forkhead box P3 gene DOID:10763 hypertension treatment ISO RGD:1562112 D RGD:9068941 20200831 RGD PMID:24420551|REF_RGD_ID:38549366 12403859 FOXP3 forkhead box P3 gene DOID:11166 papillomavirus infectious disease susceptibility ISO RGD:1348507 D RGD:9068941 20200820 RGD DNA:SNP::rs3761548(human) PMID:31177386|REF_RGD_ID:38501104 12403859 FOXP3 forkhead box P3 gene DOID:11168 anogenital venereal wart ISO RGD:1348507 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 12403859 FOXP3 forkhead box P3 gene DOID:11263 chlamydia treatment ISO RGD:1348507 D RGD:9068941 20200807 RGD PMID:30832593|REF_RGD_ID:38455984 12403859 FOXP3 forkhead box P3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1348507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12403859 FOXP3 forkhead box P3 gene DOID:1205 allergic disease ISO RGD:1348507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27965764 12403859 FOXP3 forkhead box P3 gene DOID:12236 primary biliary cholangitis ISO RGD:1348507 D RGD:9068941 20200820 RGD mRNA:increased expression:liver PMID:17158635|REF_RGD_ID:38501106 12403859 FOXP3 forkhead box P3 gene DOID:12365 malaria ISO RGD:1348507 D RGD:9068941 20200807 RGD PMID:19338000|REF_RGD_ID:38455985 12403859 FOXP3 forkhead box P3 gene DOID:12365 malaria disease_progression ISO RGD:1348507 D RGD:9068941 20200807 RGD PMID:16169501|REF_RGD_ID:38455992 12403859 FOXP3 forkhead box P3 gene DOID:12849 autistic disorder ISO RGD:1348507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12403859 FOXP3 forkhead box P3 gene DOID:1459 hypothyroidism treatment ISO RGD:1562112 D RGD:9068941 20200903 RGD PMID:29896255|REF_RGD_ID:38549578 12403859 FOXP3 forkhead box P3 gene DOID:1883 hepatitis C ISO RGD:1348507 D RGD:9068941 20200813 RGD mRNA:increased expression:liver PMID:17414718|REF_RGD_ID:38456005 12403859 FOXP3 forkhead box P3 gene DOID:2043 hepatitis B ISO RGD:1348507 D RGD:9068941 20200827 RGD associated with hepatocellular carcinoma; protein:increased expression:liver PMID:21086571|REF_RGD_ID:38548919 12403859 FOXP3 forkhead box P3 gene DOID:2355 anemia ISO RGD:1348507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868 12403859 FOXP3 forkhead box P3 gene DOID:2723 dermatitis ISO RGD:1557838 D RGD:9068941 20200831 RGD PMID:22466646|REF_RGD_ID:38549359 12403859 FOXP3 forkhead box P3 gene DOID:2799 bronchiolitis obliterans ISO RGD:1562112 D RGD:9068941 20200910 RGD mRNA:increased expression:lung PMID:19840961|REF_RGD_ID:4889978 12403859 FOXP3 forkhead box P3 gene DOID:2841 asthma ISO RGD:1348507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27965764|PMID:29317916 12403859 FOXP3 forkhead box P3 gene DOID:2841 asthma treatment ISO RGD:1557838 D RGD:9068941 20200827 RGD PMID:27633092|REF_RGD_ID:38548920 12403859 FOXP3 forkhead box P3 gene DOID:2841 asthma treatment ISO RGD:1562112 D RGD:9068941 20200831 RGD PMID:28944907|REF_RGD_ID:38549365 12403859 FOXP3 forkhead box P3 gene DOID:289 endometriosis severity ISO RGD:1348507 D RGD:9068941 20200820 RGD PMID:22541024|REF_RGD_ID:38501099 12403859 FOXP3 forkhead box P3 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1348507 D RGD:9068941 20200820 RGD DNA:polymorphism:promoter:-924A>G(human) PMID:29020928|REF_RGD_ID:38501101 12403859 FOXP3 forkhead box P3 gene DOID:321 tropical spastic paraparesis ISO RGD:1348507 D RGD:9068941 20200831 RGD mRNA:decreased expression: T cell PMID:20945034|REF_RGD_ID:38549361 12403859 FOXP3 forkhead box P3 gene DOID:321 tropical spastic paraparesis disease_progression ISO RGD:1348507 D RGD:9068941 20200813 RGD PMID:28101786|REF_RGD_ID:38456004 12403859 FOXP3 forkhead box P3 gene DOID:3298 vaccinia ISO RGD:1557838 D RGD:9068941 20200806 RGD PMID:20548030|REF_RGD_ID:36947870 12403859 FOXP3 forkhead box P3 gene DOID:3744 cervical squamous cell carcinoma severity ISO RGD:1348507 D RGD:9068941 20200807 RGD PMID:28086903|REF_RGD_ID:38455996 12403859 FOXP3 forkhead box P3 gene DOID:401 multidrug-resistant tuberculosis ISO RGD:1348507 D RGD:9068941 20200813 RGD mRNA:increased expression:peripheral blood: PMID:25483347|REF_RGD_ID:38456003 12403859 FOXP3 forkhead box P3 gene DOID:4166 syphilis treatment ISO RGD:1348507 D RGD:9068941 20200813 RGD PMID:27284313|REF_RGD_ID:38456006 12403859 FOXP3 forkhead box P3 gene DOID:4404 occupational dermatitis ISO RGD:1348507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29477354 12403859 FOXP3 forkhead box P3 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:1562112 D RGD:9068941 20200910 RGD DNA:hypomethylation:liver PMID:24291052|REF_RGD_ID:38599002 12403859 FOXP3 forkhead box P3 gene DOID:630 genetic disease ISO RGD:1348507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12403859 FOXP3 forkhead box P3 gene DOID:684 hepatocellular carcinoma ISO RGD:1348507 D RGD:9068941 20200827 RGD protein:increased expression:liver PMID:21086571|REF_RGD_ID:38548919 12403859 FOXP3 forkhead box P3 gene DOID:7148 rheumatoid arthritis ISO RGD:1348507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20476861 12403859 FOXP3 forkhead box P3 gene DOID:8568 infectious mononucleosis disease_progression ISO RGD:1348507 D RGD:9068941 20200820 RGD PMID:23628056|REF_RGD_ID:38501103 12403859 FOXP3 forkhead box P3 gene DOID:874 bacterial pneumonia severity ISO RGD:1557838 D RGD:9068941 20200820 RGD PMID:25398094|REF_RGD_ID:38501102 12403859 FOXP3 forkhead box P3 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1562112 D RGD:9068941 20200903 RGD PMID:30287503|REF_RGD_ID:38549580 12403859 FOXP3 forkhead box P3 gene DOID:9000099 Experimental Colitis ISO RGD:1557838 D RGD:9068941 20200807 RGD protein:increased expression:colon: PMID:17229795|REF_RGD_ID:38455995 12403859 FOXP3 forkhead box P3 gene DOID:9000099 Experimental Colitis ISO RGD:1557838 D RGD:9068941 20200831 RGD mRNA:increased expression:mucosa: PMID:27498708|REF_RGD_ID:14975101 12403859 FOXP3 forkhead box P3 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1557838 D RGD:9068941 20200807 RGD PMID:26925602|REF_RGD_ID:38455994 12403859 FOXP3 forkhead box P3 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1562112 D RGD:9068941 20200831 RGD PMID:28733028|REF_RGD_ID:38549362 12403859 FOXP3 forkhead box P3 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1348507 D RGD:9068941 20200831 RGD mRNA,protein:increased expression:peripheral blood mononuclear cell, liver: PMID:21489307|REF_RGD_ID:38549358 12403859 FOXP3 forkhead box P3 gene DOID:9000310 Lung Injury ISO RGD:1348507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28630656 12403859 FOXP3 forkhead box P3 gene DOID:9000509 Epstein-Barr Virus Infections susceptibility ISO RGD:1348507 D RGD:9068941 20200827 RGD associated with adult T-cell leukemia; PMID:18246047|REF_RGD_ID:38548918 12403859 FOXP3 forkhead box P3 gene DOID:9001099 Hydranencephaly with Renal Aplasia-Dysplasia ISO RGD:1348507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydranencephaly with renal aplasia-dysplasia PMID:25741868 12403859 FOXP3 forkhead box P3 gene DOID:9002311 Experimental Autoimmune Myocarditis severity ISO RGD:1562112 D RGD:9068941 20200903 RGD PMID:28892130|REF_RGD_ID:38549573 12403859 FOXP3 forkhead box P3 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:1562112 D RGD:9068941 20200910 RGD PMID:19907173|REF_RGD_ID:13702882 12403859 FOXP3 forkhead box P3 gene DOID:9002457 Experimental Arthritis ISO RGD:1562112 D RGD:9068941 20200910 RGD mRNA,protein:decreased expression:lung PMID:23643080|REF_RGD_ID:38599003 12403859 FOXP3 forkhead box P3 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1562112 D RGD:9068941 20200831 RGD PMID:29264841|REF_RGD_ID:38549364 12403859 FOXP3 forkhead box P3 gene DOID:9002780 Recurrent Respiratory Papillomatosis susceptibility ISO RGD:1348507 D RGD:9068941 20200831 RGD DNA:SNPs:promoter:rs5902434,rs2232365 (human) PMID:28298239|REF_RGD_ID:38549360 12403859 FOXP3 forkhead box P3 gene DOID:9003040 Squamous Intraepithelial Lesions of the Cervix severity ISO RGD:1348507 D RGD:9068941 20200820 RGD DNA:SNP::rs3761548(human) PMID:31177386|REF_RGD_ID:38501104 12403859 FOXP3 forkhead box P3 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1348507 D RGD:9068941 20200827 RGD PMID:18673437|REF_RGD_ID:38548921 12403859 FOXP3 forkhead box P3 gene DOID:9004283 Transplant Rejection ISO RGD:1348507 D RGD:9068941 20200813 RGD mRNA:increased expression:liver PMID:17414718|REF_RGD_ID:38456005 12403859 FOXP3 forkhead box P3 gene DOID:9004283 Transplant Rejection ISO RGD:1557838 D RGD:9068941 20200910 RGD PMID:21199671|REF_RGD_ID:38599144 12403859 FOXP3 forkhead box P3 gene DOID:9004283 Transplant Rejection treatment ISO RGD:1557838 D RGD:9068941 20200903 RGD PMID:28457422|REF_RGD_ID:38549577 12403859 FOXP3 forkhead box P3 gene DOID:9004484 Sepsis severity ISO RGD:1348507 D RGD:9068941 20200806 RGD PMID:25403265|REF_RGD_ID:38455982 12403859 FOXP3 forkhead box P3 gene DOID:9004656 Airway Remodeling treatment ISO RGD:1557838 D RGD:9068941 20200827 RGD PMID:27633092|REF_RGD_ID:38548920 12403859 FOXP3 forkhead box P3 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:1557838 D RGD:9068941 20200820 RGD mRNA:decreased expression:placenta: PMID:21923716|REF_RGD_ID:38501105 12403859 FOXP3 forkhead box P3 gene DOID:9005172 Lung Neoplasms ISO RGD:1348507 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:34166680 12403859 FOXP3 forkhead box P3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1562112 D RGD:9068941 20200910 RGD mRNA,protein:increased expression: peripheral blood, spleen, lymphoid node PMID:18328191|REF_RGD_ID:38599142 12403859 FOXP3 forkhead box P3 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1562112 D RGD:9068941 20200910 RGD PMID:32341701|REF_RGD_ID:38599143 12403859 FOXP3 forkhead box P3 gene DOID:9005930 Endotoxemia ISO RGD:1562112 D RGD:9068941 20200806 RGD protein:increased expression:intestinal mucosa PMID:19998507|REF_RGD_ID:38455980 12403859 FOXP3 forkhead box P3 gene DOID:9005968 Neuralgia ISO RGD:1562112 D RGD:9068941 20200910 RGD mRNA:increased expression: L4-L5 of the spinal cord PMID:30858084|REF_RGD_ID:38599004 12403859 FOXP3 forkhead box P3 gene DOID:9005968 Neuralgia treatment ISO RGD:1557838 D RGD:9068941 20200910 RGD PMID:30858084|REF_RGD_ID:38599004 12403859 FOXP3 forkhead box P3 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:1562112 D RGD:9068941 20200903 RGD protein:decreased expression:sciatic nerve PMID:30464413|REF_RGD_ID:38549576 12403859 FOXP3 forkhead box P3 gene DOID:9007204 Dysbiosis treatment ISO RGD:1562112 D RGD:9068941 20200903 RGD PMID:32227764|REF_RGD_ID:38549571 12403859 FOXP3 forkhead box P3 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1348507 D RGD:9068941 20200827 RGD PMID:18673437|REF_RGD_ID:38548921 12403859 FOXP3 forkhead box P3 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1348507 D RGD:9068941 20200831 RGD mRNA,protein:increased expression:peripheral blood mononuclear cell, liver: PMID:21489307|REF_RGD_ID:38549358 12403859 FOXP3 forkhead box P3 gene DOID:9008386 Hydrops Fetalis ISO RGD:1348507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydrops fetalis PMID:11137992|PMID:11295725|PMID:16920951|PMID:22590469|PMID:25546394|PMID:25741868|PMID:28492532|PMID:28778586|PMID:28783662|PMID:30293990|PMID:30443250|PMID:31130284|PMID:33637067 12403859 FOXP3 forkhead box P3 gene DOID:9008861 Wound Infection severity ISO RGD:1562112 D RGD:9068941 20200910 RGD associated with Pseudomonas aeruginosa infection;mRNA:increased expression:wound fluid: PMID:22141756|REF_RGD_ID:38599139 12403859 FOXP3 forkhead box P3 gene DOID:9008939 Breast Neoplasms ISO RGD:1348507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17570480 12403859 FOXP3 forkhead box P3 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1348507 D RGD:9068941 20200806 RGD mRNA:increased expression:Peripheral blood mononuclear cell: PMID:29205403|REF_RGD_ID:38455981 12403859 FOXP3 forkhead box P3 gene DOID:9169 Wiskott-Aldrich syndrome ISO RGD:1557838 D RGD:9068941 20220825 MouseDO OMIM:301000 | OMIM:614493 12403859 FOXP3 forkhead box P3 gene DOID:9256 colorectal cancer ISO RGD:1348507 D RGD:9068941 20200910 RGD DNA:hypomethylation:colorectum PMID:24291052|REF_RGD_ID:38599002 12403859 FOXP3 forkhead box P3 gene DOID:9351 diabetes mellitus ISO RGD:1348507 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:11137993|PMID:23313429|PMID:25741868|PMID:28492532|PMID:29193502|PMID:33194927|PMID:33523441 12403859 FOXP3 forkhead box P3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1348507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 1 PMID:25741868 12403859 FOXP3 forkhead box P3 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1348507 D RGD:9068941 20200609 RGD associated with Autoimmune Diseases;DNA:mutations: :multiple (human) PMID:11137992|REF_RGD_ID:1598959 12403891 PCDH15 protocadherin related 15 gene DOID:0050439 Usher syndrome ISO RGD:1353280 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:17576681|PMID:20301442|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27460420|PMID:27861356|PMID:28041643|PMID:28281779|PMID:28492532|PMID:28847902|PMID:30245029|PMID:30311386|PMID:30718709|PMID:9536098 12403891 PCDH15 protocadherin related 15 gene DOID:0050439 Usher syndrome ISO RGD:1353280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:17576681|PMID:20301442|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27058588|PMID:27460420|PMID:27861356|PMID:28041643|PMID:28281779|PMID:28492532|PMID:28847902|PMID:30245029|PMID:30311386|PMID:30718709|PMID:9536098 12403891 PCDH15 protocadherin related 15 gene DOID:0050563 nonsyndromic deafness ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Deafness PMID:25741868|PMID:28281779|PMID:28492532 12403891 PCDH15 protocadherin related 15 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 12403891 PCDH15 protocadherin related 15 gene DOID:0110481 autosomal recessive nonsyndromic deafness 23 ISO RGD:1353280 D RGD:7240710 20180130 OMIM 12403891 PCDH15 protocadherin related 15 gene DOID:0110481 autosomal recessive nonsyndromic deafness 23 ISO RGD:1353280 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 23 PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15660226|PMID:16679490|PMID:17576681|PMID:18484607|PMID:18719945|PMID:19107147|PMID:19375528|PMID:19683999|PMID:20301442|PMID:21436283|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:23451239|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24705292|PMID:24831256|PMID:24940003|PMID:25262649|PMID:25307757|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26226137|PMID:26467025|PMID:26791358|PMID:26969326|PMID:27058588|PMID:27440999|PMID:27460420|PMID:27861356|PMID:28000701|PMID:28281779|PMID:28492532|PMID:28847902|PMID:30029624|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30718709|PMID:32747562|PMID:33111345|PMID:34440452|PMID:34751129|PMID:35802133|PMID:36633841|PMID:9536098 12403891 PCDH15 protocadherin related 15 gene DOID:0110826 Usher syndrome type 1 ISO RGD:1353280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:17576681|PMID:20301442|PMID:20672374|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24618850|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26969326|PMID:27058588|PMID:27208204|PMID:27460420|PMID:27610647|PMID:27766948|PMID:27861356|PMID:28492532|PMID:28847902|PMID:30245029|PMID:30311386|PMID:30718709|PMID:31054281|PMID:33090715|PMID:9536098 12403891 PCDH15 protocadherin related 15 gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:28492532 12403891 PCDH15 protocadherin related 15 gene DOID:0110831 Usher syndrome type 1D ISO RGD:1353280 D RGD:7240710 20180130 OMIM 12403891 PCDH15 protocadherin related 15 gene DOID:0110831 Usher syndrome type 1D ISO RGD:1353280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15660226|PMID:16199547|PMID:16679490|PMID:17576681|PMID:18484607|PMID:18719945|PMID:19375528|PMID:20301442|PMID:21436283|PMID:21569298|PMID:22135276|PMID:22815625|PMID:22981120|PMID:23451239|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24618850|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:25999675|PMID:26467025|PMID:26872967|PMID:27058588|PMID:27460420|PMID:27610647|PMID:27766948|PMID:28000701|PMID:28281779|PMID:28492532|PMID:28847902|PMID:29568747|PMID:29625443|PMID:30245029|PMID:30311386|PMID:30718709|PMID:9536098 12403891 PCDH15 protocadherin related 15 gene DOID:0110832 Usher syndrome type 1F ISO RGD:1353280 D RGD:7240710 20180130 OMIM 12403891 PCDH15 protocadherin related 15 gene DOID:0110832 Usher syndrome type 1F ISO RGD:1353280 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16199547|PMID:16283880|PMID:16679490|PMID:16963483|PMID:17277737|PMID:17576681|PMID:18484607|PMID:18719945|PMID:19107147|PMID:19375528|PMID:19683999|PMID:20301442|PMID:20538994|PMID:20672374|PMID:21436283|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:22952768|PMID:22981120|PMID:23451239|PMID:23462753|PMID:23591405|PMID:23767834|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24618850|PMID:24705292|PMID:24831256|PMID:24853665|PMID:24940003|PMID:25262649|PMID:25307757|PMID:25333064|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25525159|PMID:25575603|PMID:25741868|PMID:26166082|PMID:26226137|PMID:26279247|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27058588|PMID:27068579|PMID:27208204|PMID:27440999|PMID:27460420|PMID:27583663|PMID:27610647|PMID:27743452|PMID:27766948|PMID:27861356|PMID:28000701|PMID:28281779|PMID:28492532|PMID:28559085|PMID:28847902|PMID:28900111|PMID:28944237|PMID:28968992|PMID:28984810|PMID:29074561|PMID:29568747|PMID:29625443|PMID:30029624|PMID:30054919|PMID:30245029|PMID:30311386|PMID:30459346|PMID:30718709|PMID:31054281|PMID:32467589|PMID:33090715|PMID:33111345|PMID:33576794|PMID:34416374|PMID:34744965|PMID:34751129|PMID:9536098 12403891 PCDH15 protocadherin related 15 gene DOID:0110834 Usher syndrome type 1G ISO RGD:1353280 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1G PMID:11398101|PMID:11487575|PMID:12588794|PMID:12711741|PMID:14570705|PMID:15028842|PMID:20301442|PMID:22815625|PMID:24033266|PMID:24105371|PMID:25262649|PMID:25307757|PMID:25525159|PMID:25741868|PMID:27460420|PMID:28492532 12403891 PCDH15 protocadherin related 15 gene DOID:10487 Hirschsprung's disease ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 12403891 PCDH15 protocadherin related 15 gene DOID:10584 retinitis pigmentosa ISO RGD:1353280 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:25741868|PMID:28492532|PMID:30718709|PMID:9536098 12403891 PCDH15 protocadherin related 15 gene DOID:12849 autistic disorder ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12403891 PCDH15 protocadherin related 15 gene DOID:303 substance-related disorder ISO RGD:1353280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12403891 PCDH15 protocadherin related 15 gene DOID:5419 schizophrenia ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12403891 PCDH15 protocadherin related 15 gene DOID:5463 cochlear disease ISO RGD:1353280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10978835 12403891 PCDH15 protocadherin related 15 gene DOID:630 genetic disease ISO RGD:1353280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12403891 PCDH15 protocadherin related 15 gene DOID:8501 fundus dystrophy ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11398101|PMID:11487575|PMID:14570705|PMID:22815625|PMID:23451239|PMID:25741868|PMID:26791358|PMID:27208204|PMID:27743452|PMID:28492532|PMID:30311386|PMID:30459346 12403891 PCDH15 protocadherin related 15 gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1353280 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:21569298|PMID:22183965|PMID:22815625|PMID:24033266|PMID:24105371|PMID:24498627|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27460420|PMID:27861356|PMID:28492532|PMID:30311386 12403891 PCDH15 protocadherin related 15 gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1353280 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:20301442|PMID:21569298|PMID:22183965|PMID:22815625|PMID:24033266|PMID:24105371|PMID:24498627|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27460420|PMID:27861356|PMID:28492532|PMID:30311386 12403891 PCDH15 protocadherin related 15 gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1353280 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:17576681|PMID:20301442|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27460420|PMID:27861356|PMID:28492532|PMID:28847902|PMID:30245029|PMID:30311386|PMID:30718709|PMID:9536098 12403891 PCDH15 protocadherin related 15 gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1353280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:17576681|PMID:20301442|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27058588|PMID:27460420|PMID:27861356|PMID:28492532|PMID:28847902|PMID:30245029|PMID:30311386|PMID:30718709|PMID:9536098 12403891 PCDH15 protocadherin related 15 gene DOID:9004538 Hearing Loss ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:25468891|PMID:25741868|PMID:28492532|PMID:30311386 12403891 PCDH15 protocadherin related 15 gene DOID:9006896 Usher Syndrome, Type ID/F ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC PMID:15537665|PMID:15660226|PMID:24033266 12403891 PCDH15 protocadherin related 15 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1353280 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment PMID:23804846|PMID:25741868|PMID:26226137|PMID:28492532|PMID:30029624 12403891 PCDH15 protocadherin related 15 gene DOID:9008681 Deafness ISO RGD:1353280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10978835 12403891 PCDH15 protocadherin related 15 gene DOID:9008681 Deafness ISO RGD:1590969 D RGD:9068941 20210910 RGD DNA:nonsense mutation:cds:c.2911C>T|p.Arg971X (rat) PMID:19151506|REF_RGD_ID:2306012 12403891 PCDH15 protocadherin related 15 gene DOID:9849 Meniere's disease ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:25741868|PMID:28492532 12403932 NDRG2 NDRG family member 2 gene DOID:224 transient cerebral ischemia ISO RGD:732058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23451161 12403932 NDRG2 NDRG family member 2 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:732058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12403932 NDRG2 NDRG family member 2 gene DOID:630 genetic disease ISO RGD:732058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12403932 NDRG2 NDRG family member 2 gene DOID:83 cataract ISO RGD:732058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22043305 12403932 NDRG2 NDRG family member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12403932 NDRG2 NDRG family member 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:732058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12403932 NDRG2 NDRG family member 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:732058 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12403957 SEC62 SEC62 homolog, preprotein translocation factor gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1318878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 12403957 SEC62 SEC62 homolog, preprotein translocation factor gene DOID:1062 Fanconi syndrome ISO RGD:1318878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 12403957 SEC62 SEC62 homolog, preprotein translocation factor gene DOID:630 genetic disease ISO RGD:1318878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12403970 SLC25A24 solute carrier family 25 member 24 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1607032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12403970 SLC25A24 solute carrier family 25 member 24 gene DOID:12849 autistic disorder ISO RGD:1607032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12403970 SLC25A24 solute carrier family 25 member 24 gene DOID:630 genetic disease ISO RGD:1607032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12403970 SLC25A24 solute carrier family 25 member 24 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1607032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868 12403970 SLC25A24 solute carrier family 25 member 24 gene DOID:9000279 Congenital Progeroid Syndrome, Petty Type ISO RGD:1607032 D RGD:7240710 20190315 OMIM 12403970 SLC25A24 solute carrier family 25 member 24 gene DOID:9000279 Congenital Progeroid Syndrome, Petty Type ISO RGD:1607032 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fontaine progeroid syndrome PMID:10215548|PMID:10594888|PMID:19731360|PMID:21216154|PMID:25741868|PMID:28492532|PMID:29100093|PMID:29100094 12403970 SLC25A24 solute carrier family 25 member 24 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1607032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12403984 SERPINA11 serpin family A member 11 gene DOID:0081063 DICER1 syndrome ISO RGD:1345910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 12403984 SERPINA11 serpin family A member 11 gene DOID:118 pericardial effusion ISO RGD:1345910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pericardial effusion PMID:25741868 12403984 SERPINA11 serpin family A member 11 gene DOID:630 genetic disease ISO RGD:1345910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12403984 SERPINA11 serpin family A member 11 gene DOID:9008386 Hydrops Fetalis ISO RGD:1345910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 12403993 MPP1 MAGUK p55 scaffold protein 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1347904 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12403993 MPP1 MAGUK p55 scaffold protein 1 gene DOID:0050476 Barth syndrome ISO RGD:1347904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12403993 MPP1 MAGUK p55 scaffold protein 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1347904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12403993 MPP1 MAGUK p55 scaffold protein 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1347904 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12403993 MPP1 MAGUK p55 scaffold protein 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1347904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12403993 MPP1 MAGUK p55 scaffold protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1347904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12403993 MPP1 MAGUK p55 scaffold protein 1 gene DOID:12134 factor VIII deficiency ISO RGD:1347904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Factor VIII deficiency, congenital PMID:2105106 12403993 MPP1 MAGUK p55 scaffold protein 1 gene DOID:12849 autistic disorder ISO RGD:1347904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12403993 MPP1 MAGUK p55 scaffold protein 1 gene DOID:13628 favism ISO RGD:1347904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12403993 MPP1 MAGUK p55 scaffold protein 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1347904 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12403993 MPP1 MAGUK p55 scaffold protein 1 gene DOID:299 adenocarcinoma ISO RGD:1347904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 12403993 MPP1 MAGUK p55 scaffold protein 1 gene DOID:607 paraplegia ISO RGD:1347904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12403993 MPP1 MAGUK p55 scaffold protein 1 gene DOID:630 genetic disease ISO RGD:1347904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12403993 MPP1 MAGUK p55 scaffold protein 1 gene DOID:9002720 Splenomegaly ISO RGD:1347904 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12403993 MPP1 MAGUK p55 scaffold protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1347904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 12404079 IL13 interleukin 13 gene DOID:0050127 sinusitis ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20358028 12404079 IL13 interleukin 13 gene DOID:0050127 sinusitis susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD associated with asthma; DNA:polymorphisms:promoter:c. -1510A>C, -1055C>T (human) PMID:20358028|REF_RGD_ID:4145767 12404079 IL13 interleukin 13 gene DOID:0060496 respiratory allergy ISO RGD:69009 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19564030|REF_RGD_ID:4145637 12404079 IL13 interleukin 13 gene DOID:0060496 respiratory allergy susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP, missense mutation:promoter, exon:-1112C>T, p.R130Q (human) PMID:18849614|REF_RGD_ID:8549507 12404079 IL13 interleukin 13 gene DOID:0060500 drug allergy ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 12404079 IL13 interleukin 13 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18802068|REF_RGD_ID:4145478 12404079 IL13 interleukin 13 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:69008 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12404079 IL13 interleukin 13 gene DOID:0080600 COVID-19 severity ISO RGD:69008 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|PMID:32360286|REF_RGD_ID:30309209|REF_RGD_ID:30309212 12404079 IL13 interleukin 13 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:19951958|REF_RGD_ID:8549563 12404079 IL13 interleukin 13 gene DOID:10966 lipoid nephrosis ISO RGD:68949 D RGD:9068941 20200609 RGD PMID:17429054|REF_RGD_ID:2290347 12404079 IL13 interleukin 13 gene DOID:11132 prostatic hypertrophy ISO RGD:68949 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:20945403|REF_RGD_ID:5684375 12404079 IL13 interleukin 13 gene DOID:11204 allergic conjunctivitis ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:9191598|REF_RGD_ID:8549533 12404079 IL13 interleukin 13 gene DOID:11204 allergic conjunctivitis ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Allergic Rhinitis;DNA:SNPs, haplotype:promoter, exon:-1112C>T (rs1800925), p.R130Q (rs20541) (human) PMID:22023794|REF_RGD_ID:8549595 12404079 IL13 interleukin 13 gene DOID:11263 chlamydia ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:21573182|REF_RGD_ID:5684365 12404079 IL13 interleukin 13 gene DOID:11396 pulmonary edema ISO RGD:69008 D RGD:9068941 20200609 RGD aosciated with Enterovirus Infections PMID:15635619|REF_RGD_ID:4145737 12404079 IL13 interleukin 13 gene DOID:11678 onchocerciasis severity ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22805723|REF_RGD_ID:8549600 12404079 IL13 interleukin 13 gene DOID:11963 esophagitis ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:20543112|REF_RGD_ID:4145528 12404079 IL13 interleukin 13 gene DOID:1205 allergic disease ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12404079 IL13 interleukin 13 gene DOID:1205 allergic disease ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP:promoter, 3' utr:-1055C>T, 4738G>A (human) PMID:11588017|REF_RGD_ID:4765128 12404079 IL13 interleukin 13 gene DOID:12306 vitiligo treatment ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:23680073|REF_RGD_ID:8549591 12404079 IL13 interleukin 13 gene DOID:12351 alcoholic hepatitis ISO RGD:68949 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:16698589|REF_RGD_ID:1581860 12404079 IL13 interleukin 13 gene DOID:12361 Graves' disease disease_progression ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1112C>T (rs1800925) (human) PMID:21235536|REF_RGD_ID:7829719 12404079 IL13 interleukin 13 gene DOID:12361 Graves' disease susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:-1112C>T (rs1800925), p.R130Q (rs20541) (human) PMID:15483090|REF_RGD_ID:8549544 12404079 IL13 interleukin 13 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:18250447|REF_RGD_ID:4145641 12404079 IL13 interleukin 13 gene DOID:12849 autistic disorder ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16360218 12404079 IL13 interleukin 13 gene DOID:12894 Sjogren's syndrome ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12051401|REF_RGD_ID:8549582 12404079 IL13 interleukin 13 gene DOID:13141 uveitis ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:17392164|REF_RGD_ID:4145496 12404079 IL13 interleukin 13 gene DOID:13141 uveitis treatment ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:11481267|REF_RGD_ID:8549551 12404079 IL13 interleukin 13 gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20416219|REF_RGD_ID:4145765 12404079 IL13 interleukin 13 gene DOID:13378 Kawasaki disease ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:21958311|REF_RGD_ID:5684363 12404079 IL13 interleukin 13 gene DOID:13976 peptic esophagitis ISO RGD:68949 D RGD:9068941 20200609 RGD associated with asthma; mRNA, protein:increased expression:esophagus, Bronchoalveolar Lavage Fluid PMID:18222984|REF_RGD_ID:2307110 12404079 IL13 interleukin 13 gene DOID:14067 Plasmodium falciparum malaria ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21985368|REF_RGD_ID:5684362 12404079 IL13 interleukin 13 gene DOID:1485 cystic fibrosis ISO RGD:69008 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchoalveolar lavage fluid PMID:15463872|REF_RGD_ID:4312589 12404079 IL13 interleukin 13 gene DOID:1580 diffuse scleroderma ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr, enhancer: (rs1800925, rs2243204) (human) PMID:16832637|REF_RGD_ID:5684369 12404079 IL13 interleukin 13 gene DOID:1793 pancreatic cancer ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:12808442|REF_RGD_ID:2317670 12404079 IL13 interleukin 13 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:18758789|REF_RGD_ID:2317669 12404079 IL13 interleukin 13 gene DOID:1883 hepatitis C ISO RGD:69008 D RGD:9068941 20201112 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:17553896|REF_RGD_ID:40400745 12404079 IL13 interleukin 13 gene DOID:1883 hepatitis C disease_progression ISO RGD:69008 D RGD:9068941 20201112 RGD protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:17553896|REF_RGD_ID:40400745 12404079 IL13 interleukin 13 gene DOID:2048 autoimmune hepatitis ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 12404079 IL13 interleukin 13 gene DOID:2377 multiple sclerosis ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22031307|REF_RGD_ID:5684368 12404079 IL13 interleukin 13 gene DOID:2377 multiple sclerosis severity ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:21677024|REF_RGD_ID:8549589 12404079 IL13 interleukin 13 gene DOID:2723 dermatitis ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31330126 12404079 IL13 interleukin 13 gene DOID:2723 dermatitis ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs20541 (human) PMID:23171465|REF_RGD_ID:8549505 12404079 IL13 interleukin 13 gene DOID:2773 contact dermatitis treatment ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:19951958|REF_RGD_ID:8549563 12404079 IL13 interleukin 13 gene DOID:2799 bronchiolitis obliterans ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar lavage fluid PMID:17182591|REF_RGD_ID:4146242 12404079 IL13 interleukin 13 gene DOID:2799 bronchiolitis obliterans ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:17182591|REF_RGD_ID:4146242 12404079 IL13 interleukin 13 gene DOID:2841 asthma ISO RGD:69008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, susceptibility to PMID:10699178|PMID:11588017|PMID:11709756|PMID:12847555|PMID:12928861|PMID:15356556|PMID:15483090|PMID:15711639|PMID:15879126 12404079 IL13 interleukin 13 gene DOID:2841 asthma no_association ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R130Q (human) PMID:11678850|REF_RGD_ID:4763761 12404079 IL13 interleukin 13 gene DOID:2841 asthma severity ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.-1055C>T (human) PMID:20198887|REF_RGD_ID:4145593 12404079 IL13 interleukin 13 gene DOID:2841 asthma severity ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11758895|REF_RGD_ID:4763153 12404079 IL13 interleukin 13 gene DOID:2841 asthma severity ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:18328894|REF_RGD_ID:4145777 12404079 IL13 interleukin 13 gene DOID:2841 asthma severity ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:18258919|REF_RGD_ID:4145639 12404079 IL13 interleukin 13 gene DOID:2841 asthma susceptibility ISO RGD:69008 D RGD:7240710 20190502 OMIM 12404079 IL13 interleukin 13 gene DOID:2957 pulmonary tuberculosis ISO RGD:69008 D RGD:9068941 20200609 RGD mRNA:increased expression:Leukocytes, Mononuclear PMID:10608794|REF_RGD_ID:4145649 12404079 IL13 interleukin 13 gene DOID:3008 invasive ductal carcinoma ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:22135852|REF_RGD_ID:8549515 12404079 IL13 interleukin 13 gene DOID:3044 food allergy ISO RGD:69009 D RGD:9068941 20200609 RGD mRNA:increased expression:small intestine PMID:22038918|REF_RGD_ID:5684372 12404079 IL13 interleukin 13 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP:promoter:c.-1055 C>T (human) PMID:15820084|REF_RGD_ID:4145714 12404079 IL13 interleukin 13 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:polymorphism: :c. 1103C>T (human) PMID:15308043|REF_RGD_ID:4145668 12404079 IL13 interleukin 13 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c.-1055C>T (human) PMID:19995275|REF_RGD_ID:4145596 12404079 IL13 interleukin 13 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:polymorphisms:intron1,exon4s: rs2066960, rs20541, rs1295685 (human) PMID:19796199|REF_RGD_ID:4145601 12404079 IL13 interleukin 13 gene DOID:3310 atopic dermatitis ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437|PMID:22355542 12404079 IL13 interleukin 13 gene DOID:3310 atopic dermatitis ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:16672002|REF_RGD_ID:8549583 12404079 IL13 interleukin 13 gene DOID:3310 atopic dermatitis ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP:exon:4257G>A (human) PMID:10887320|REF_RGD_ID:8549529 12404079 IL13 interleukin 13 gene DOID:3310 atopic dermatitis ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNPs: :rs3091307, rs20541 (human) PMID:21913997|REF_RGD_ID:5684364 12404079 IL13 interleukin 13 gene DOID:3310 atopic dermatitis ISO RGD:69009 D RGD:9068941 20220825 MouseDO OMIM:603165 12404079 IL13 interleukin 13 gene DOID:3310 atopic dermatitis severity ISO RGD:69008 D RGD:9068941 20200609 RGD DNA, protein:SNP, increased expression:promoter, serum:-1112C>T (human) PMID:23317483|REF_RGD_ID:8549509 12404079 IL13 interleukin 13 gene DOID:3310 atopic dermatitis severity ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:17313488|REF_RGD_ID:8549539 12404079 IL13 interleukin 13 gene DOID:3310 atopic dermatitis treatment ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:19006098|REF_RGD_ID:8549531 12404079 IL13 interleukin 13 gene DOID:3326 purpura susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD associated withe Sjogren's Syndrome;DNA:SNP:cds:2044 G>A(human) PMID:16166103|REF_RGD_ID:11528572 12404079 IL13 interleukin 13 gene DOID:350 mastocytosis ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1112C>T (rs1800925) (human) PMID:19178408|REF_RGD_ID:8549523 12404079 IL13 interleukin 13 gene DOID:3525 middle cerebral artery infarction ISO RGD:68949 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:23028794|REF_RGD_ID:7204480 12404079 IL13 interleukin 13 gene DOID:3770 pulmonary fibrosis ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15322207 12404079 IL13 interleukin 13 gene DOID:3770 pulmonary fibrosis ISO RGD:69008 D RGD:9068941 20200609 RGD idiopathic pulmonary fibrosis PMID:19654941|REF_RGD_ID:4145627 12404079 IL13 interleukin 13 gene DOID:3770 pulmonary fibrosis ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:20176803|REF_RGD_ID:4888529 12404079 IL13 interleukin 13 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:68949 D RGD:9068941 20200609 RGD PMID:19154443|REF_RGD_ID:2314537 12404079 IL13 interleukin 13 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:19154443|REF_RGD_ID:2314537 12404079 IL13 interleukin 13 gene DOID:4001 ovarian carcinoma ISO RGD:69008 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:tumor,ascites:mRNA increased relative to normal ovary, protein increased in tumor tissue/cancer ascites relative to normal ovary/ascites PMID:14984938|REF_RGD_ID:2290344 12404079 IL13 interleukin 13 gene DOID:418 systemic scleroderma ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9034992|REF_RGD_ID:5684371 12404079 IL13 interleukin 13 gene DOID:418 systemic scleroderma ISO RGD:69009 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:skin PMID:15564778|REF_RGD_ID:5684370 12404079 IL13 interleukin 13 gene DOID:418 systemic scleroderma no_association ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human) PMID:22045834|REF_RGD_ID:8549502 12404079 IL13 interleukin 13 gene DOID:4376 milk allergy ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Dermatitis, Atopic; DNA:missense mutation:cds:p.R130Q (c.389G>A) (rs20541) (human) PMID:19220774|REF_RGD_ID:8549541 12404079 IL13 interleukin 13 gene DOID:4377 egg allergy ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Dermatitis, Atopic; DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (c.389G>A) (rs1800925, rs20541) (human) PMID:19220774|REF_RGD_ID:8549541 12404079 IL13 interleukin 13 gene DOID:4378 peanut allergy ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Dermatitis, Atopic; DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (c.389G>A) (rs1800925, rs20541) (human) PMID:19220774|REF_RGD_ID:8549541 12404079 IL13 interleukin 13 gene DOID:4404 occupational dermatitis ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:19254288|REF_RGD_ID:8549579 12404079 IL13 interleukin 13 gene DOID:4450 renal cell carcinoma ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22317767 12404079 IL13 interleukin 13 gene DOID:4481 allergic rhinitis ISO RGD:69008 D RGD:9068941 20230216 CTD CTD Direct Evidence: marker/mechanism 12404079 IL13 interleukin 13 gene DOID:4481 allergic rhinitis no_association ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human) PMID:12928861|REF_RGD_ID:8549516 12404079 IL13 interleukin 13 gene DOID:4481 allergic rhinitis susceptibility ISO RGD:69008 D RGD:7240710 20190502 OMIM 12404079 IL13 interleukin 13 gene DOID:4483 rhinitis ISO RGD:68949 D RGD:9068941 20200609 RGD mRNA:increased expression:nose PMID:20696593|REF_RGD_ID:4145454 12404079 IL13 interleukin 13 gene DOID:4483 rhinitis ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:16120094|REF_RGD_ID:4206706 12404079 IL13 interleukin 13 gene DOID:4483 rhinitis disease_progression ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:17088137|REF_RGD_ID:4159171 12404079 IL13 interleukin 13 gene DOID:4483 rhinitis susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs1800925 (human) PMID:20484924|REF_RGD_ID:4145534 12404079 IL13 interleukin 13 gene DOID:4483 rhinitis susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD associated with asthma; DNA:polymorphisms:promoter:c. -1510A>C, -1055C>T (human) PMID:20358028|REF_RGD_ID:4145767 12404079 IL13 interleukin 13 gene DOID:4989 pancreatitis ISO RGD:68949 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:20100461|REF_RGD_ID:4145466 12404079 IL13 interleukin 13 gene DOID:4989 pancreatitis ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:20100461|REF_RGD_ID:4145466 12404079 IL13 interleukin 13 gene DOID:552 pneumonia ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12404079 IL13 interleukin 13 gene DOID:552 pneumonia ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Respiratory Distress Syndrome, Newborn; protein:increased expression:bronchoalveolar lavage fluid PMID:19695190|REF_RGD_ID:4145774 12404079 IL13 interleukin 13 gene DOID:630 genetic disease ISO RGD:69008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12404079 IL13 interleukin 13 gene DOID:6432 pulmonary hypertension ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Scleroderma, Limited;protein:increased expression:plasma PMID:21425123|REF_RGD_ID:8549528 12404079 IL13 interleukin 13 gene DOID:6432 pulmonary hypertension ISO RGD:69008 D RGD:9068941 20200609 RGD associated with sclerosis; protein:increased expression:plasma (human) PMID:19799786|REF_RGD_ID:4145600 12404079 IL13 interleukin 13 gene DOID:7148 rheumatoid arthritis ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12051401|REF_RGD_ID:8549582 12404079 IL13 interleukin 13 gene DOID:841 extrinsic allergic alveolitis ISO RGD:68949 D RGD:9068941 20200609 RGD PMID:9916735|REF_RGD_ID:4145650 12404079 IL13 interleukin 13 gene DOID:841 extrinsic allergic alveolitis ISO RGD:69009 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20861649|REF_RGD_ID:5128548 12404079 IL13 interleukin 13 gene DOID:8472 localized scleroderma ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12920362|REF_RGD_ID:8549537 12404079 IL13 interleukin 13 gene DOID:850 lung disease ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22355542 12404079 IL13 interleukin 13 gene DOID:850 lung disease ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Behcet Syndrome; protein:increased expression:Bronchoalveolar lavage fluid PMID:20716936|REF_RGD_ID:4145526 12404079 IL13 interleukin 13 gene DOID:850 lung disease ISO RGD:69009 D RGD:9068941 20200609 RGD acute lung injury PMID:17404281|REF_RGD_ID:4145647 12404079 IL13 interleukin 13 gene DOID:8893 psoriasis ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19169254|PMID:20953190 12404079 IL13 interleukin 13 gene DOID:8893 psoriasis no_association ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP, missense mutation:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human) PMID:21349879|REF_RGD_ID:8549517 12404079 IL13 interleukin 13 gene DOID:8893 psoriasis susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: (rs20541) (human) PMID:23617596|REF_RGD_ID:8549593 12404079 IL13 interleukin 13 gene DOID:9000081 Lymphatic Metastasis ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Melanoma, Cutaneous Malignant;mRNA:increased expression:lymph node PMID:17545514|REF_RGD_ID:8549587 12404079 IL13 interleukin 13 gene DOID:9000156 Metaplasia ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21203431 12404079 IL13 interleukin 13 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12654629|PMID:23434795 12404079 IL13 interleukin 13 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:12669034|REF_RGD_ID:4761594 12404079 IL13 interleukin 13 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:69009 D RGD:9068941 20200609 RGD associated with Eosinophilic enteropathy PMID:15236177|REF_RGD_ID:4145432 12404079 IL13 interleukin 13 gene DOID:9000772 Bronchial Hyperreactivity susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1055C>T (human) PMID:11588017|REF_RGD_ID:4765128 12404079 IL13 interleukin 13 gene DOID:9000784 Fibrosis treatment ISO RGD:68949 D RGD:9068941 20200609 RGD associated with Venous Thrombosis PMID:12947342|REF_RGD_ID:8549644 12404079 IL13 interleukin 13 gene DOID:9001472 Nasal Polyps ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Rhinosinusitis;protein:increased expression:serum PMID:23969075|REF_RGD_ID:8549540 12404079 IL13 interleukin 13 gene DOID:9001488 Human Influenza ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20003352|REF_RGD_ID:4888530 12404079 IL13 interleukin 13 gene DOID:9002211 Hyperalgesia treatment ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:11399514|REF_RGD_ID:8549555 12404079 IL13 interleukin 13 gene DOID:9002221 Hyperplasia ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19342650 12404079 IL13 interleukin 13 gene DOID:9002287 Respiratory Tract Granuloma treatment ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:10857756|REF_RGD_ID:8549624 12404079 IL13 interleukin 13 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:68949 D RGD:9068941 20200609 RGD PMID:15902684|REF_RGD_ID:8549607 12404079 IL13 interleukin 13 gene DOID:9002457 Experimental Arthritis ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10444273 12404079 IL13 interleukin 13 gene DOID:9002457 Experimental Arthritis ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:17665443|REF_RGD_ID:4889497 12404079 IL13 interleukin 13 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:68949 D RGD:9068941 20200609 RGD PMID:11860705|REF_RGD_ID:8549606 12404079 IL13 interleukin 13 gene DOID:9002605 Delayed Hypersensitivity treatment ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:19951958|REF_RGD_ID:8549563 12404079 IL13 interleukin 13 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:7523520|REF_RGD_ID:5684367 12404079 IL13 interleukin 13 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis severity ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:18250480|REF_RGD_ID:5684366 12404079 IL13 interleukin 13 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159|PMID:22967010 12404079 IL13 interleukin 13 gene DOID:9002869 Schistosomiasis Mansoni treatment ISO RGD:68949 D RGD:9068941 20200609 RGD PMID:10903803|REF_RGD_ID:8549615 12404079 IL13 interleukin 13 gene DOID:9003157 Respiratory Sounds ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Bronchiolitis; protein:increased expression:serum PMID:18312531|REF_RGD_ID:4145779 12404079 IL13 interleukin 13 gene DOID:9003470 Picornaviridae Infections ISO RGD:69009 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive;mRNA,protein:increased expression:lung PMID:19748999|REF_RGD_ID:4145626 12404079 IL13 interleukin 13 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:69008 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nasal mucosa PMID:8520776|REF_RGD_ID:4782826 12404079 IL13 interleukin 13 gene DOID:9004009 Reperfusion Injury ISO RGD:68949 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:18354382|REF_RGD_ID:2301685 12404079 IL13 interleukin 13 gene DOID:9004009 Reperfusion Injury ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:18354382|REF_RGD_ID:2301685 12404079 IL13 interleukin 13 gene DOID:9004283 Transplant Rejection ISO RGD:68949 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:17532783|REF_RGD_ID:10402939 12404079 IL13 interleukin 13 gene DOID:9004283 Transplant Rejection treatment ISO RGD:68949 D RGD:9068941 20200609 RGD PMID:17331844|REF_RGD_ID:8549647 12404079 IL13 interleukin 13 gene DOID:9004283 Transplant Rejection treatment ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:17902182|REF_RGD_ID:8549629 12404079 IL13 interleukin 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12404079 IL13 interleukin 13 gene DOID:9004484 Sepsis ISO RGD:68949 D RGD:9068941 20200609 RGD protein:decreased expression:ileum PMID:21159497|REF_RGD_ID:8549643 12404079 IL13 interleukin 13 gene DOID:9004484 Sepsis ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:10679115|REF_RGD_ID:4145654 12404079 IL13 interleukin 13 gene DOID:9004610 Acute Lung Injury ISO RGD:68949 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15461830|REF_RGD_ID:4145512 12404079 IL13 interleukin 13 gene DOID:9005372 Inflammation ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22867017 12404079 IL13 interleukin 13 gene DOID:9005724 Fungal Lung Diseases ISO RGD:68949 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:16544260|REF_RGD_ID:4145506 12404079 IL13 interleukin 13 gene DOID:9005724 Fungal Lung Diseases ISO RGD:69009 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19752036|REF_RGD_ID:4145474 12404079 IL13 interleukin 13 gene DOID:9005930 Endotoxemia treatment ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:10674721|REF_RGD_ID:8549626 12404079 IL13 interleukin 13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12404079 IL13 interleukin 13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69008 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12404079 IL13 interleukin 13 gene DOID:9007356 Eczema ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP:CDS:p.R130Q (rs20541) (human) PMID:23815671|REF_RGD_ID:8549530 12404079 IL13 interleukin 13 gene DOID:9007356 Eczema no_association ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple PMID:18410415|REF_RGD_ID:8549512 12404079 IL13 interleukin 13 gene DOID:9007417 Pseudomonas Infections ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:16387607|REF_RGD_ID:4145500 12404079 IL13 interleukin 13 gene DOID:9007651 Chronic Bronchitis ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:Respiratory Mucosa PMID:14582911|REF_RGD_ID:4759835 12404079 IL13 interleukin 13 gene DOID:9008 psoriatic arthritis susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP, missense mutation:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human PMID:21349879|REF_RGD_ID:8549517 12404079 IL13 interleukin 13 gene DOID:9008 psoriatic arthritis susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:rs1800925, rs20541, rs848 (human) PMID:19554022|REF_RGD_ID:8549552 12404079 IL13 interleukin 13 gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung; DNA:SNPs: :rs20541, rs180925 (human) PMID:20811626|REF_RGD_ID:5131286 12404079 IL13 interleukin 13 gene DOID:9008680 Respiratory Tract Infections ISO RGD:69008 D RGD:9068941 20200609 RGD Severe Acute Respiratory Syndrome PMID:14633438|REF_RGD_ID:4145665 12404079 IL13 interleukin 13 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:promoter, exon:-1512A>C, -1055C>T, 2044G>A (human) PMID:18989750|REF_RGD_ID:8549503 12404079 IL13 interleukin 13 gene DOID:9008939 Breast Neoplasms treatment ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:17438063|REF_RGD_ID:8549557 12404079 IL13 interleukin 13 gene DOID:9074 systemic lupus erythematosus ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12051401|REF_RGD_ID:8549582 12404079 IL13 interleukin 13 gene DOID:9111 cutaneous leishmaniasis treatment ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:12739821|PMID:18924210|REF_RGD_ID:8549536|REF_RGD_ID:8549561 12404079 IL13 interleukin 13 gene DOID:9498 pulmonary eosinophilia ISO RGD:69009 D RGD:9068941 20200609 RGD associated with Respiratory Syncytial Virus Infections PMID:12574374|REF_RGD_ID:8549597 12404079 IL13 interleukin 13 gene DOID:9675 pulmonary emphysema ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:11067861|REF_RGD_ID:4145652 12404087 TXN2 thioredoxin 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:737462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12404087 TXN2 thioredoxin 2 gene DOID:0080016 spina bifida ISO RGD:737462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19165900 12404087 TXN2 thioredoxin 2 gene DOID:0111501 combined oxidative phosphorylation deficiency 29 ISO RGD:737462 D RGD:7240710 20190315 OMIM 12404087 TXN2 thioredoxin 2 gene DOID:0111501 combined oxidative phosphorylation deficiency 29 ISO RGD:737462 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 29 PMID:25741868|PMID:26626369|PMID:28492532 12404087 TXN2 thioredoxin 2 gene DOID:630 genetic disease ISO RGD:737462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12404087 TXN2 thioredoxin 2 gene DOID:9004009 Reperfusion Injury ISO RGD:71040 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex PMID:19128823|REF_RGD_ID:5685030 12404087 TXN2 thioredoxin 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:71040 D RGD:9068941 20200609 RGD mRNA:altered expression:myocardium (rat) PMID:20571744|REF_RGD_ID:5133714 12404087 TXN2 thioredoxin 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:71040 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:15039483|REF_RGD_ID:2306161 12404087 TXN2 thioredoxin 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:71040 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart PMID:18045550|REF_RGD_ID:2306159 12404098 FLOT1 flotillin 1 gene DOID:0050553 JMP syndrome ISO RGD:736684 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12404098 FLOT1 flotillin 1 gene DOID:11100 Q fever ISO RGD:736684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16469060 12404098 FLOT1 flotillin 1 gene DOID:11372 megacolon ISO RGD:736684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12404098 FLOT1 flotillin 1 gene DOID:630 genetic disease ISO RGD:736684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12404121 MSH5 mutS homolog 5 gene DOID:0050553 JMP syndrome ISO RGD:1343663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12404121 MSH5 mutS homolog 5 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1343663 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:34755185 12404121 MSH5 mutS homolog 5 gene DOID:0080870 primary ovarian insufficiency 13 ISO RGD:1343663 D RGD:7240710 20190315 OMIM 12404121 MSH5 mutS homolog 5 gene DOID:0080870 primary ovarian insufficiency 13 ISO RGD:1343663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 13 PMID:28175301 12404121 MSH5 mutS homolog 5 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1343663 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 12404121 MSH5 mutS homolog 5 gene DOID:14227 azoospermia ISO RGD:1343663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 12404121 MSH5 mutS homolog 5 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1343663 D RGD:9068941 20210430 RGD DNA:SNPs: :rs805304, rs707939 (human) PMID:28093084|REF_RGD_ID:126848786 12404121 MSH5 mutS homolog 5 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1343663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome 12404121 MSH5 mutS homolog 5 gene DOID:630 genetic disease ISO RGD:1343663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12404121 MSH5 mutS homolog 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1343663 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12404121 MSH5 mutS homolog 5 gene DOID:9002151 Spermatogenic Failure 74 ISO RGD:1343663 D RGD:7240710 20220720 OMIM 12404121 MSH5 mutS homolog 5 gene DOID:9002151 Spermatogenic Failure 74 ISO RGD:1343663 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 74 PMID:25741868|PMID:34755185 12404150 ATP6V1F ATPase H+ transporting V1 subunit F gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1351850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:28492532 12404150 ATP6V1F ATPase H+ transporting V1 subunit F gene DOID:0080600 COVID-19 ISO RGD:1351850 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12404150 ATP6V1F ATPase H+ transporting V1 subunit F gene DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 ISO RGD:1351850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F PMID:28492532 12404150 ATP6V1F ATPase H+ transporting V1 subunit F gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12404150 ATP6V1F ATPase H+ transporting V1 subunit F gene DOID:630 genetic disease ISO RGD:1351850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12404156 MRPL32 mitochondrial ribosomal protein L32 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12404156 MRPL32 mitochondrial ribosomal protein L32 gene DOID:630 genetic disease ISO RGD:1321503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12404163 ALKBH3 alkB homolog 3, alpha-ketoglutarate dependent dioxygenase gene DOID:1059 intellectual disability ISO RGD:1606677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12404163 ALKBH3 alkB homolog 3, alpha-ketoglutarate dependent dioxygenase gene DOID:630 genetic disease ISO RGD:1606677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12404179 DDX18 DEAD-box helicase 18 gene DOID:630 genetic disease ISO RGD:1348568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12404196 CDADC1 cytidine and dCMP deaminase domain containing 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1323516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12404196 CDADC1 cytidine and dCMP deaminase domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1323516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12404196 CDADC1 cytidine and dCMP deaminase domain containing 1 gene DOID:630 genetic disease ISO RGD:1323516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12404215 MED13L mediator complex subunit 13L gene DOID:0060041 autism spectrum disorder ISO RGD:1314183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:30504930 12404215 MED13L mediator complex subunit 13L gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:1314183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Transposition of the great arteries, dextro-looped PMID:14638541|PMID:16199547|PMID:17576681|PMID:23403903|PMID:24267886|PMID:24781760|PMID:24896178|PMID:25137640|PMID:25167861|PMID:25356899|PMID:25712080|PMID:25741868|PMID:25741884|PMID:25758992|PMID:27824329|PMID:27899622|PMID:28371282|PMID:28492532|PMID:28554332|PMID:28588821|PMID:28645799|PMID:29159987|PMID:29511999|PMID:29959045|PMID:31785789|PMID:5167861|PMID:9536098 12404215 MED13L mediator complex subunit 13L gene DOID:1059 intellectual disability ISO RGD:1314183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23403903|PMID:25167861|PMID:25741868|PMID:28492532|PMID:29511999 12404215 MED13L mediator complex subunit 13L gene DOID:540 strabismus ISO RGD:1314183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868 12404215 MED13L mediator complex subunit 13L gene DOID:630 genetic disease ISO RGD:1314183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12738880|PMID:14638541|PMID:23403903|PMID:24267886|PMID:24781760|PMID:24896178|PMID:25137640|PMID:25167861|PMID:25356899|PMID:25712080|PMID:25741868|PMID:25758992|PMID:27899622|PMID:28371282|PMID:28492532|PMID:28588821|PMID:28645799|PMID:29159987|PMID:29511999|PMID:5167861 12404215 MED13L mediator complex subunit 13L gene DOID:9003837 Au-Kline Syndrome ISO RGD:1314183 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Kabuki-like syndrome PMID:25741868 12404215 MED13L mediator complex subunit 13L gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12404215 MED13L mediator complex subunit 13L gene DOID:9006001 Mental Retardation and Distinctive Facial Features with or without Cardiac Defects ISO RGD:1314183 D RGD:7240710 20190315 OMIM 12404215 MED13L mediator complex subunit 13L gene DOID:9006001 Mental Retardation and Distinctive Facial Features with or without Cardiac Defects ISO RGD:1314183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ASADOLLAHI-RAUCH SYNDROME | ClinVar Annotator: match by term: Impaired intellectual development and distinctive facial features with cardiac defects | ClinVar Annotator: match by term: MED13L-Related Disorder PMID:14638541|PMID:22542183|PMID:24781760|PMID:24896178|PMID:25167861|PMID:25712080|PMID:25741868|PMID:25741869|PMID:25758992|PMID:28492532|PMID:28554332|PMID:28645799|PMID:28708303|PMID:29511999|PMID:30504930|PMID:31785789 12404215 MED13L mediator complex subunit 13L gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1314183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12404215 MED13L mediator complex subunit 13L gene DOID:9008086 Developmental Disabilities ISO RGD:1314183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25712080|PMID:25741868|PMID:25741884|PMID:25758992|PMID:28492532|PMID:31785789 12404215 MED13L mediator complex subunit 13L gene DOID:9620 vesicoureteral reflux ISO RGD:1314183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vesico-Ureteral Reflux PMID:25741868 12404249 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:0080763 diffuse gastric cancer severity ISO RGD:733801 D RGD:9068941 20220114 RGD DNA:SNP:enhancer: (rs889312) (human) PMID:24759887|REF_RGD_ID:150573718 12404249 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:0111769 46,XY sex reversal 6 ISO RGD:733801 D RGD:7240710 20180130 OMIM 12404249 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:0111769 46,XY sex reversal 6 ISO RGD:733801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 6 PMID:11242112|PMID:12476449|PMID:20301714|PMID:21129722|PMID:24135036|PMID:24497709|PMID:25326637|PMID:25383892|PMID:25741868|PMID:27899157|PMID:28492532|PMID:28504475|PMID:30608580|PMID:30872814|PMID:32985417|PMID:5419329 12404249 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:733801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 12404249 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:10534 stomach cancer exacerbates ISO RGD:733801 D RGD:9068941 20220114 RGD DNA:SNP:enhancer: (rs889312) (human) PMID:31686841|REF_RGD_ID:150573716 12404249 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:733801 D RGD:9068941 20220114 RGD DNA:SNP:intron:g.56206570C>G (rs16886448) (human) PMID:23042672|REF_RGD_ID:150573715 12404249 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:1612 breast cancer ISO RGD:733801 D RGD:9068941 20200609 RGD DNA:SNP:linkage disequilibrium block:minor allele of SNP rs889312, p=7x10e-20 PMID:17529967|REF_RGD_ID:2289657 12404249 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:1612 breast cancer ISO RGD:733801 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:increased expression in luminal A and normal-like vs other molecular subtypes, (p=5.2x10e-5) PMID:18036273|REF_RGD_ID:2293356 12404249 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:1612 breast cancer disease_progression ISO RGD:733801 D RGD:9068941 20200609 RGD DNA:SNP:linkage disequilibrium block:minor allele associated with reduced risk of lymph node involvement at diagnosis (p=0.044) PMID:17997823|REF_RGD_ID:2293357 12404249 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:1923 disorder of sexual development ISO RGD:733801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 12404249 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:1993 rectum cancer susceptibility ISO RGD:733801 D RGD:9068941 20220114 RGD DNA:SNP:intron: (rs43184) (human) PMID:23859041|REF_RGD_ID:150573807 12404249 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:1993 rectum cancer treatment ISO RGD:733801 D RGD:9068941 20220114 RGD DNA:SNP:intron: (rs2548663) (human) PMID:23027623|REF_RGD_ID:13217411 12404249 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:3748 esophagus squamous cell carcinoma sexual_dimorphism ISO RGD:733801 D RGD:9068941 20220114 RGD DNA:missense mutation, SNP:CDS, exon 14, 3'-UTR: (rs702689,rs702688) (human) PMID:32753933|REF_RGD_ID:150573717 12404249 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:733801 D RGD:9068941 20220114 RGD DNA:SNPs:5'-UTR, intron 1: (rs17661089, rs16886403, rs726501) (human) PMID:21636554|REF_RGD_ID:150573805 12404249 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:630 genetic disease ISO RGD:733801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28504475 12404249 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:733801 D RGD:9068941 20220114 RGD mRNA:decreased expression:liver (human) PMID:31310010|REF_RGD_ID:150573714 12404249 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 12404249 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms 12404249 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12404249 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:9004538 Hearing Loss ISO RGD:733801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30872814 12404249 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17529967 12404249 MAP3K1 mitogen-activated protein kinase kinase kinase 1 gene DOID:9009121 lung metastasis ameliorates ISO RGD:733802 D RGD:9068941 20220114 RGD associated with breast carcinoma PMID:16568086|REF_RGD_ID:150573808 12404282 MSH3 mutS homolog 3 gene DOID:0050424 familial adenomatous polyposis ISO RGD:1353031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12404282 MSH3 mutS homolog 3 gene DOID:0080199 colorectal carcinoma ISO RGD:1353031 D RGD:9068941 20200609 RGD PMID:9401011|REF_RGD_ID:1625103 12404282 MSH3 mutS homolog 3 gene DOID:0080412 familial adenomatous polyposis 4 ISO RGD:1353031 D RGD:7240710 20190315 OMIM 12404282 MSH3 mutS homolog 3 gene DOID:0080412 familial adenomatous polyposis 4 ISO RGD:1353031 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 4 | ClinVar Annotator: match by term: MSH3-related attenuated familial adenomatous polyposis PMID:11470537|PMID:16199547|PMID:17576681|PMID:20981092|PMID:21128252|PMID:22179786|PMID:23960188|PMID:25741868|PMID:26467025|PMID:27476653|PMID:28211887|PMID:28492532|PMID:28873162|PMID:28875981|PMID:28944238|PMID:29212164|PMID:29641532|PMID:31127692|PMID:31589614|PMID:32619037|PMID:32634176|PMID:33193653|PMID:34308366|PMID:8782829|PMID:9536098 12404282 MSH3 mutS homolog 3 gene DOID:1324 lung cancer ISO RGD:1353031 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:28492532 12404282 MSH3 mutS homolog 3 gene DOID:1380 endometrial cancer ISO RGD:1353031 D RGD:7240710 20190213 OMIM 12404282 MSH3 mutS homolog 3 gene DOID:2871 endometrial carcinoma ISO RGD:1353031 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:11470537|PMID:17576681|PMID:20981092|PMID:21128252|PMID:25741868|PMID:26467025|PMID:27476653|PMID:27696107|PMID:28492532|PMID:28528517|PMID:28944238|PMID:29641532|PMID:30719162|PMID:31589614|PMID:32008151|PMID:32365829|PMID:32634176|PMID:32635641|PMID:33007869|PMID:33606809|PMID:8782829|PMID:9536098 12404282 MSH3 mutS homolog 3 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1353031 D RGD:9068941 20210430 RGD DNA:SNPs: :rs6151627, rs6151670, rs7709909 (human) PMID:28093084|REF_RGD_ID:126848786 12404282 MSH3 mutS homolog 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1353031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21327329 12404282 MSH3 mutS homolog 3 gene DOID:4435 cavernous sinus meningioma ISO RGD:1353031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cavernous sinus meningioma PMID:26467025|PMID:31371350|PMID:31627758 12404282 MSH3 mutS homolog 3 gene DOID:630 genetic disease ISO RGD:1353031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12404282 MSH3 mutS homolog 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1353031 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:28492532 12404282 MSH3 mutS homolog 3 gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1353031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency PMID:25741868 12404282 MSH3 mutS homolog 3 gene DOID:9000027 Microsatellite Instability ISO RGD:1353031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 12404282 MSH3 mutS homolog 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18355840 12404282 MSH3 mutS homolog 3 gene DOID:9003312 Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency ISO RGD:1353031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DHFR DEFICIENCY | ClinVar Annotator: match by term: Megaloblastic anemia due to dihydrofolate reductase deficiency PMID:24033266|PMID:26467025|PMID:28492532|PMID:31371350|PMID:31627758 12404282 MSH3 mutS homolog 3 gene DOID:9004351 Digestive System Neoplasms ISO RGD:1353031 D RGD:9068941 20200609 RGD PMID:9401011|REF_RGD_ID:1625103 12404282 MSH3 mutS homolog 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12404282 MSH3 mutS homolog 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353031 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11470537|PMID:16199547|PMID:17576681|PMID:20154325|PMID:20160730|PMID:20421420|PMID:20981092|PMID:21128252|PMID:22179786|PMID:23960188|PMID:24033266|PMID:25142776|PMID:25741868|PMID:2635641|PMID:26467025|PMID:26485759|PMID:26837502|PMID:26904404|PMID:27300758|PMID:27476653|PMID:27696107|PMID:28211887|PMID:28492532|PMID:28528517|PMID:28873162|PMID:28875981|PMID:28944238|PMID:29212164|PMID:29245953|PMID:29641532|PMID:29868112|PMID:30573798|PMID:30740464|PMID:31054147|PMID:31160353|PMID:31243857|PMID:31371350|PMID:31589614|PMID:31627758|PMID:32619037|PMID:32634176|PMID:32635641|PMID:32973888|PMID:33007869|PMID:33193653|PMID:33332384|PMID:33606809|PMID:34250384|PMID:34308366|PMID:34404389|PMID:34608827|PMID:34767783|PMID:8782829|PMID:8838312|PMID:9536098 12404282 MSH3 mutS homolog 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353031 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11470537|PMID:16199547|PMID:17576681|PMID:20154325|PMID:20160730|PMID:20421420|PMID:20981092|PMID:21128252|PMID:21153778|PMID:22179786|PMID:23960188|PMID:24033266|PMID:25142776|PMID:25741868|PMID:2635641|PMID:26467025|PMID:26485759|PMID:26837502|PMID:26904404|PMID:27300758|PMID:27476653|PMID:27696107|PMID:28211887|PMID:28492532|PMID:28528517|PMID:28873162|PMID:28875981|PMID:28944238|PMID:29212164|PMID:29245953|PMID:29641532|PMID:29868112|PMID:30573798|PMID:30719162|PMID:30740464|PMID:31054147|PMID:31127692|PMID:31160353|PMID:31243857|PMID:31371350|PMID:31589614|PMID:31627758|PMID:31911633|PMID:32008151|PMID:32091409|PMID:32365829|PMID:32619037|PMID:32634176|PMID:32635641|PMID:32973888|PMID:33007869|PMID:33193653|PMID:33332384|PMID:33606809|PMID:34250384|PMID:34308366|PMID:34404389|PMID:34608827|PMID:34767783|PMID:36419139|PMID:8782829|PMID:8838312|PMID:9536098 12404282 MSH3 mutS homolog 3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1353031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12404282 MSH3 mutS homolog 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353031 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:25227144|PMID:28492532 12404311 DDX19B DEAD-box helicase 19B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1346558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12404311 DDX19B DEAD-box helicase 19B gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1346558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12404311 DDX19B DEAD-box helicase 19B gene DOID:630 genetic disease ISO RGD:1346558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12404336 KCTD19 potassium channel tetramerization domain containing 19 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1349783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12404336 KCTD19 potassium channel tetramerization domain containing 19 gene DOID:630 genetic disease ISO RGD:1349783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12404336 KCTD19 potassium channel tetramerization domain containing 19 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1349783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 12404371 SMAD2 SMAD family member 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1347299 D RGD:9068941 20220624 RGD mRNA:increased expression:blood plasma (human) PMID:31874165|REF_RGD_ID:152995482 12404371 SMAD2 SMAD family member 2 gene DOID:0060356 Vici syndrome ISO RGD:1347299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 12404371 SMAD2 SMAD family member 2 gene DOID:0111243 acromicric dysplasia ISO RGD:1347299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 12404371 SMAD2 SMAD family member 2 gene DOID:1059 intellectual disability ISO RGD:1347299 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12404371 SMAD2 SMAD family member 2 gene DOID:11054 urinary bladder cancer ISO RGD:736957 D RGD:9068941 20200609 RGD PMID:15548366|REF_RGD_ID:2299964 12404371 SMAD2 SMAD family member 2 gene DOID:1380 endometrial cancer ISO RGD:1347299 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:12883738|REF_RGD_ID:2299970 12404371 SMAD2 SMAD family member 2 gene DOID:1793 pancreatic cancer ISO RGD:1347299 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (human) PMID:10505717|REF_RGD_ID:14394490 12404371 SMAD2 SMAD family member 2 gene DOID:219 colon cancer treatment ISO RGD:3031 D RGD:9068941 20210611 RGD PMID:33360052|REF_RGD_ID:127229954 12404371 SMAD2 SMAD family member 2 gene DOID:229 female reproductive system disease ISO RGD:736957 D RGD:9068941 20200609 RGD Endosalpingiosis PMID:16141389|REF_RGD_ID:2299962 12404371 SMAD2 SMAD family member 2 gene DOID:2394 ovarian cancer ISO RGD:1347299 D RGD:9068941 20200609 RGD DNA:deletion, polymorphisms PMID:10969799|REF_RGD_ID:2299974 12404371 SMAD2 SMAD family member 2 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1347299 D RGD:9068941 20200609 RGD PMID:11809701|REF_RGD_ID:2300007 12404371 SMAD2 SMAD family member 2 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:1347299 D RGD:9068941 20200609 RGD PMID:26908446|REF_RGD_ID:14394493 12404371 SMAD2 SMAD family member 2 gene DOID:3883 Lynch syndrome ISO RGD:1347299 D RGD:9068941 20200609 RGD PMID:10819637|REF_RGD_ID:1599900 12404371 SMAD2 SMAD family member 2 gene DOID:4001 ovarian carcinoma ISO RGD:1347299 D RGD:9068941 20200609 RGD PMID:14985451|REF_RGD_ID:2299967 12404371 SMAD2 SMAD family member 2 gene DOID:4297 scimitar syndrome ISO RGD:1347299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anomalous pulmonary venous return 12404371 SMAD2 SMAD family member 2 gene DOID:4362 cervical cancer ISO RGD:1347299 D RGD:9068941 20200609 RGD DNA, mRNA:insertion, deletion, decreased expression:uterine cervix PMID:12894231|REF_RGD_ID:2299968 12404371 SMAD2 SMAD family member 2 gene DOID:4450 renal cell carcinoma severity ISO RGD:1347299 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:11332076|REF_RGD_ID:2299973 12404371 SMAD2 SMAD family member 2 gene DOID:5844 myocardial infarction treatment ISO RGD:3031 D RGD:9068941 20200609 RGD PMID:11087260|REF_RGD_ID:12903276 12404371 SMAD2 SMAD family member 2 gene DOID:630 genetic disease ISO RGD:1347299 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30157302 12404371 SMAD2 SMAD family member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:3031 D RGD:9068941 20200609 RGD PMID:18971187|REF_RGD_ID:12880056 12404371 SMAD2 SMAD family member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16570350 12404371 SMAD2 SMAD family member 2 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:3031 D RGD:9068941 20200609 RGD mRNA:increased expression:hypoglossal nucleus PMID:17166487|REF_RGD_ID:1643227 12404371 SMAD2 SMAD family member 2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1347299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 12404371 SMAD2 SMAD family member 2 gene DOID:9004582 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY ISO RGD:1347299 D RGD:7240710 20220209 OMIM 12404371 SMAD2 SMAD family member 2 gene DOID:9004582 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY ISO RGD:1347299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY PMID:23665959|PMID:30157302 12404371 SMAD2 SMAD family member 2 gene DOID:9006321 LOEYS-DIETZ SYNDROME 6 ISO RGD:1347299 D RGD:7240710 20220209 OMIM 12404371 SMAD2 SMAD family member 2 gene DOID:9006321 LOEYS-DIETZ SYNDROME 6 ISO RGD:1347299 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 6 PMID:15210694|PMID:25741868|PMID:26247899|PMID:28283438|PMID:28492532|PMID:29392890|PMID:29967133|PMID:30157302|PMID:34655614 12404371 SMAD2 SMAD family member 2 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:1347299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 12404371 SMAD2 SMAD family member 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:1347299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16635409 12404371 SMAD2 SMAD family member 2 gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:736957 D RGD:9068941 20230406 RGD associated with myocardial infarction PMID:25726944|REF_RGD_ID:11252030 12404371 SMAD2 SMAD family member 2 gene DOID:9008510 Chronic Hepatitis ISO RGD:1347299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 12404371 SMAD2 SMAD family member 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1347299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15183723|PMID:9655392 12404401 TREML2 triggering receptor expressed on myeloid cells like 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1353340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12404401 TREML2 triggering receptor expressed on myeloid cells like 2 gene DOID:630 genetic disease ISO RGD:1353340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12404401 TREML2 triggering receptor expressed on myeloid cells like 2 gene DOID:905 Zellweger syndrome ISO RGD:1353340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12404426 NCOR2 nuclear receptor corepressor 2 gene DOID:1612 breast cancer disease_progression ISO RGD:1321111 D RGD:9068941 20200609 RGD PMID:19904269|REF_RGD_ID:2314971 12404426 NCOR2 nuclear receptor corepressor 2 gene DOID:2871 endometrial carcinoma ISO RGD:1321111 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:14751175|REF_RGD_ID:2298984 12404426 NCOR2 nuclear receptor corepressor 2 gene DOID:4971 myelofibrosis ISO RGD:1321112 D RGD:9068941 20220825 MouseDO OMIM:254450 12404426 NCOR2 nuclear receptor corepressor 2 gene DOID:630 genetic disease ISO RGD:1321111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12404426 NCOR2 nuclear receptor corepressor 2 gene DOID:8398 osteoarthritis susceptibility ISO RGD:1321111 D RGD:9068941 20200609 RGD PMID:15334463|REF_RGD_ID:1625347 12404426 NCOR2 nuclear receptor corepressor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1321111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12404426 NCOR2 nuclear receptor corepressor 2 gene DOID:9538 multiple myeloma ISO RGD:1321111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12404478 SETD1B SET domain containing 1B, histone lysine methyltransferase gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1602124 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31 PMID:25741868 12404478 SETD1B SET domain containing 1B, histone lysine methyltransferase gene DOID:0080448 developmental and epileptic encephalopathy 48 ISO RGD:1602124 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 48 PMID:25741868 12404478 SETD1B SET domain containing 1B, histone lysine methyltransferase gene DOID:1826 epilepsy ISO RGD:1602124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 12404478 SETD1B SET domain containing 1B, histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1602124 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532|PMID:29322246|PMID:31440728|PMID:31685013 12404478 SETD1B SET domain containing 1B, histone lysine methyltransferase gene DOID:9000804 Intellectual Developmental Disorder with Seizures and Language Delay ISO RGD:1602124 D RGD:7240710 20200930 OMIM 12404478 SETD1B SET domain containing 1B, histone lysine methyltransferase gene DOID:9000804 Intellectual Developmental Disorder with Seizures and Language Delay ISO RGD:1602124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with seizures and language delay | ClinVar Annotator: match by term: SETD1B-associated disorder PMID:25741868|PMID:28492532|PMID:29322246|PMID:31110234|PMID:31440728|PMID:31685013|PMID:32546566|PMID:34345025 12404478 SETD1B SET domain containing 1B, histone lysine methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12404478 SETD1B SET domain containing 1B, histone lysine methyltransferase gene DOID:9008086 Developmental Disabilities ISO RGD:1602124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12404499 SEC31B SEC31 homolog B, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1317006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12404541 TGFB1I1 transforming growth factor beta 1 induced transcript 1 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:732522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12404541 TGFB1I1 transforming growth factor beta 1 induced transcript 1 gene DOID:630 genetic disease ISO RGD:732522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12404566 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:68499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29515023 12404566 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:68499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 12404566 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:10603 glucose intolerance ISO RGD:68499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29515023 12404566 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:68499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12404566 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:1793 pancreatic cancer ISO RGD:68499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20101243|PMID:26098869 12404566 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:219 colon cancer ISO RGD:68499 D RGD:9068941 20220901 RGD RNA:increased expression:colon (human) PMID:28710032|REF_RGD_ID:153344627 12404566 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:2237 hepatitis treatment ISO RGD:68500 D RGD:9068941 20200609 RGD PMID:28406481|REF_RGD_ID:14401591 12404566 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:2843 long QT syndrome ISO RGD:68499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12404566 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:3781 anovulation ISO RGD:68499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628394 12404566 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:68499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12404566 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:630 genetic disease ISO RGD:68499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12404566 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:9003370 Dyslipidemias ISO RGD:68499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29515023 12404566 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:9005369 Hepatomegaly ISO RGD:68499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29515023 12404566 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29515023 12404566 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:9007456 Female Infertility ISO RGD:68499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17409375 12404566 NR5A2 nuclear receptor subfamily 5 group A member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:68499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12404583 SLC13A5 solute carrier family 13 member 5 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1351292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy PMID:24033266|PMID:24995870|PMID:25741868|PMID:26384929|PMID:27261973|PMID:27600704|PMID:28492532|PMID:28673551|PMID:33040525 12404583 SLC13A5 solute carrier family 13 member 5 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1351292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12404583 SLC13A5 solute carrier family 13 member 5 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1351292 D RGD:7240710 20180130 OMIM 12404583 SLC13A5 solute carrier family 13 member 5 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1351292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:16199547|PMID:17576681|PMID:18414213|PMID:24033266|PMID:24995870|PMID:25741868|PMID:26384929|PMID:26467025|PMID:26960556|PMID:27261973|PMID:27600704|PMID:27913086|PMID:28327206|PMID:28492532|PMID:28673551|PMID:30054523|PMID:31780880|PMID:32551328|PMID:33040525|PMID:33258288|PMID:34489640|PMID:9536098 12404583 SLC13A5 solute carrier family 13 member 5 gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:1351292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 12404583 SLC13A5 solute carrier family 13 member 5 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1351292 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12404583 SLC13A5 solute carrier family 13 member 5 gene DOID:10907 microcephaly ISO RGD:1351292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12404583 SLC13A5 solute carrier family 13 member 5 gene DOID:12177 common variable immunodeficiency ISO RGD:1351292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12404583 SLC13A5 solute carrier family 13 member 5 gene DOID:2729 dyskeratosis congenita ISO RGD:1351292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12404583 SLC13A5 solute carrier family 13 member 5 gene DOID:630 genetic disease ISO RGD:1351292 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:18414213|PMID:24995870|PMID:25741868|PMID:26384929|PMID:26467025|PMID:26960556|PMID:27261973|PMID:27600704|PMID:27913086|PMID:28327206|PMID:28492532|PMID:28673551 12404583 SLC13A5 solute carrier family 13 member 5 gene DOID:9001793 Generalized Epilepsy ISO RGD:1351292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:32581362 12404583 SLC13A5 solute carrier family 13 member 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1351292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 12404583 SLC13A5 solute carrier family 13 member 5 gene DOID:9452 fatty liver disease ISO RGD:1351292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26303333 12404615 ACTL6B actin like 6B gene DOID:0060041 autism spectrum disorder ISO RGD:1351133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:32312822 12404615 ACTL6B actin like 6B gene DOID:0112026 non-syndromic X-linked intellectual disability 99 ISO RGD:1351133 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 PMID:25741868 12404615 ACTL6B actin like 6B gene DOID:0112212 developmental and epileptic encephalopathy 76 ISO RGD:1351133 D RGD:7240710 20190731 OMIM 12404615 ACTL6B actin like 6B gene DOID:0112212 developmental and epileptic encephalopathy 76 ISO RGD:1351133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 76 PMID:25741868|PMID:26539891|PMID:28492532|PMID:30237576|PMID:30656450|PMID:31031012|PMID:34008892 12404615 ACTL6B actin like 6B gene DOID:1059 intellectual disability ISO RGD:1351133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:31031012|PMID:34008892 12404615 ACTL6B actin like 6B gene DOID:12849 autistic disorder ISO RGD:1351133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:28492532|PMID:31031012|PMID:34008892 12404615 ACTL6B actin like 6B gene DOID:1826 epilepsy ISO RGD:1351133 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12404615 ACTL6B actin like 6B gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1351133 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:28973294 12404615 ACTL6B actin like 6B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12404615 ACTL6B actin like 6B gene DOID:630 genetic disease ISO RGD:1351133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31031012|PMID:34008892 12404615 ACTL6B actin like 6B gene DOID:9006467 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS ISO RGD:1351133 D RGD:7240710 20190807 OMIM 12404615 ACTL6B actin like 6B gene DOID:9006467 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS ISO RGD:1351133 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with severe speech and ambulation defects PMID:25741868|PMID:28492532|PMID:31031012|PMID:34008892|PMID:35887114 12404615 ACTL6B actin like 6B gene DOID:9007921 Spina Bifida Cystica ISO RGD:1307763 D RGD:9068941 20200609 RGD PMID:23677776|REF_RGD_ID:9587760 12404615 ACTL6B actin like 6B gene DOID:9008086 Developmental Disabilities ISO RGD:1351133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:26539891 12404640 NAXE NAD(P)HX epimerase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12404640 NAXE NAD(P)HX epimerase gene DOID:0111940 immunodeficiency 42 ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12404640 NAXE NAD(P)HX epimerase gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12404640 NAXE NAD(P)HX epimerase gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1312295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12404640 NAXE NAD(P)HX epimerase gene DOID:1540 parathyroid carcinoma ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12404640 NAXE NAD(P)HX epimerase gene DOID:5812 MHC class II deficiency ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12404640 NAXE NAD(P)HX epimerase gene DOID:630 genetic disease ISO RGD:1312295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12404640 NAXE NAD(P)HX epimerase gene DOID:9006901 Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy PMID:25741868|PMID:27290639|PMID:27616477|PMID:28492532|PMID:33798445 12404640 NAXE NAD(P)HX epimerase gene DOID:9008024 Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1 ISO RGD:1312295 D RGD:7240710 20190315 OMIM 12404640 NAXE NAD(P)HX epimerase gene DOID:9008024 Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1 ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 PMID:25741868|PMID:27290639|PMID:27616477|PMID:28492532|PMID:33798445 12404640 NAXE NAD(P)HX epimerase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12404640 NAXE NAD(P)HX epimerase gene DOID:936 brain disease ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile encephalopathy PMID:27122014 12404650 MARCHF1 membrane associated ring-CH-type finger 1 gene DOID:0080600 COVID-19 ISO RGD:1354489 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12404650 MARCHF1 membrane associated ring-CH-type finger 1 gene DOID:630 genetic disease ISO RGD:1354489 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12404671 LRRIQ1 leucine rich repeats and IQ motif containing 1 gene DOID:630 genetic disease ISO RGD:1343054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12404721 GIN1 gypsy retrotransposon integrase 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603218 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12404721 GIN1 gypsy retrotransposon integrase 1 gene DOID:630 genetic disease ISO RGD:1603218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12404721 GIN1 gypsy retrotransposon integrase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1603218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 12404721 GIN1 gypsy retrotransposon integrase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12404721 GIN1 gypsy retrotransposon integrase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603218 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12404788 LOC102153919 melanoma-associated antigen 10-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12404788 LOC102153919 melanoma-associated antigen 10-like gene DOID:0080600 COVID-19 ISO RGD:1349261 D RGD:9068941 20220121 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12404788 LOC102153919 melanoma-associated antigen 10-like gene DOID:12849 autistic disorder ISO RGD:1349261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12404788 LOC102153919 melanoma-associated antigen 10-like gene DOID:4138 bile duct disease ISO RGD:1349261 D RGD:9068941 20220121 CTD CTD Direct Evidence: marker/mechanism PMID:30515189 12404788 LOC102153919 melanoma-associated antigen 10-like gene DOID:630 genetic disease ISO RGD:1349261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12404788 LOC102153919 melanoma-associated antigen 10-like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349261 D RGD:9068941 20220121 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12404812 C17H1orf162 chromosome 17 C1orf162 homolog gene DOID:0080600 COVID-19 ISO RGD:1604535 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12404812 C17H1orf162 chromosome 17 C1orf162 homolog gene DOID:630 genetic disease ISO RGD:1604535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12404847 WASL WASP like actin nucleation promoting factor gene DOID:3310 atopic dermatitis ISO RGD:1553011 D RGD:9068941 20220825 MouseDO OMIM:603165 12404847 WASL WASP like actin nucleation promoting factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12404847 WASL WASP like actin nucleation promoting factor gene DOID:630 genetic disease ISO RGD:1347655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12404847 WASL WASP like actin nucleation promoting factor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12404862 DYNLT2B dynein light chain Tctex-type 2B gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1604497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12404862 DYNLT2B dynein light chain Tctex-type 2B gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1604497 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 12404862 DYNLT2B dynein light chain Tctex-type 2B gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1604497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 12404862 DYNLT2B dynein light chain Tctex-type 2B gene DOID:12849 autistic disorder ISO RGD:1604497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12404862 DYNLT2B dynein light chain Tctex-type 2B gene DOID:5419 schizophrenia ISO RGD:1604497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12404862 DYNLT2B dynein light chain Tctex-type 2B gene DOID:9001805 Short-Rib Thoracic Dysplasia 17 with or without Polydactyly ISO RGD:1604497 D RGD:7240710 20190315 OMIM 12404862 DYNLT2B dynein light chain Tctex-type 2B gene DOID:9001805 Short-Rib Thoracic Dysplasia 17 with or without Polydactyly ISO RGD:1604497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 17 with or without polydactyly PMID:25741868|PMID:26044572|PMID:28492532 12404870 NCOR1 nuclear receptor corepressor 1 gene DOID:0060351 mitochondrial complex III deficiency nuclear type 2 ISO RGD:730890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 2 12404870 NCOR1 nuclear receptor corepressor 1 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:730890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 12404870 NCOR1 nuclear receptor corepressor 1 gene DOID:11054 urinary bladder cancer ISO RGD:730890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 12404870 NCOR1 nuclear receptor corepressor 1 gene DOID:12849 autistic disorder ISO RGD:730890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12404870 NCOR1 nuclear receptor corepressor 1 gene DOID:12858 Huntington's disease ISO RGD:730890 D RGD:9068941 20200609 RGD protein:decreased expression:temporal cortex, neuron, nucleus (human) PMID:10441327|REF_RGD_ID:5688338 12404870 NCOR1 nuclear receptor corepressor 1 gene DOID:1459 hypothyroidism ISO RGD:3612 D RGD:9068941 20200609 RGD mRNA:altered expression:brain PMID:11850121|REF_RGD_ID:2306463 12404870 NCOR1 nuclear receptor corepressor 1 gene DOID:2030 anxiety disorder ISO RGD:3612 D RGD:9068941 20200609 RGD PMID:20051490|REF_RGD_ID:5688287 12404870 NCOR1 nuclear receptor corepressor 1 gene DOID:2671 transitional cell carcinoma ISO RGD:730890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 12404870 NCOR1 nuclear receptor corepressor 1 gene DOID:289 endometriosis ISO RGD:730890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12404870 NCOR1 nuclear receptor corepressor 1 gene DOID:3068 glioblastoma ISO RGD:730890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17312396 12404870 NCOR1 nuclear receptor corepressor 1 gene DOID:630 genetic disease ISO RGD:730890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12404870 NCOR1 nuclear receptor corepressor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12404870 NCOR1 nuclear receptor corepressor 1 gene DOID:9002532 Neonatal Hyperbilirubinemia ISO RGD:730890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28167773 12404870 NCOR1 nuclear receptor corepressor 1 gene DOID:9004713 Acute-Phase Reaction ISO RGD:3612 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:20949361|REF_RGD_ID:10412679 12404870 NCOR1 nuclear receptor corepressor 1 gene DOID:9007188 Liver Neoplasms ISO RGD:730890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27064257 12404870 NCOR1 nuclear receptor corepressor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:730890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay 12404870 NCOR1 nuclear receptor corepressor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:730890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19781322 12404870 NCOR1 nuclear receptor corepressor 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:730890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 12404870 Ncor1 nuclear receptor co-repressor 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:3612 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary (rat) PMID:22349439|REF_RGD_ID:5688285 12404942 GPX2 glutathione peroxidase 2 gene DOID:0050860 colorectal adenoma ISO RGD:1345750 D RGD:9068941 20220407 RGD mRNA:increased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 12404942 GPX2 glutathione peroxidase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1345750 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12404942 GPX2 glutathione peroxidase 2 gene DOID:0080199 colorectal carcinoma ISO RGD:1345750 D RGD:9068941 20220407 RGD mRNA:increased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 12404942 GPX2 glutathione peroxidase 2 gene DOID:219 colon cancer treatment ISO RGD:735351 D RGD:9068941 20220624 RGD associated with Inflammation PMID:28045589|REF_RGD_ID:152995480 12404942 GPX2 glutathione peroxidase 2 gene DOID:630 genetic disease ISO RGD:1345750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12404942 GPX2 glutathione peroxidase 2 gene DOID:8577 ulcerative colitis disease_progression ISO RGD:1345750 D RGD:9068941 20220630 RGD protein:increased expression:large intestine (human) PMID:18479189|REF_RGD_ID:152998902 12404942 GPX2 glutathione peroxidase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23867582 12404942 GPX2 glutathione peroxidase 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1345750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12404942 GPX2 glutathione peroxidase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1345750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18056462 12404942 GPX2 glutathione peroxidase 2 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1345750 D RGD:9068941 20220630 RGD protein:increased expression:large intestine (human) PMID:18479189|REF_RGD_ID:152998902 12404948 DDX24 DEAD-box helicase 24 gene DOID:0080054 achondrogenesis type IA ISO RGD:1353174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12404948 DDX24 DEAD-box helicase 24 gene DOID:0081063 DICER1 syndrome ISO RGD:1353174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 12404948 DDX24 DEAD-box helicase 24 gene DOID:630 genetic disease ISO RGD:1353174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12404966 GJB5 gap junction protein beta 5 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:732046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12404966 GJB5 gap junction protein beta 5 gene DOID:630 genetic disease ISO RGD:732046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12404966 GJB5 gap junction protein beta 5 gene DOID:9004464 Skin Neoplasms ISO RGD:732046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7586191 12404992 ARHGAP1 Rho GTPase activating protein 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1314470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12404992 ARHGAP1 Rho GTPase activating protein 1 gene DOID:1059 intellectual disability ISO RGD:1314470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12404992 ARHGAP1 Rho GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1314470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12404992 ARHGAP1 Rho GTPase activating protein 1 gene DOID:9002644 Premature Aging ISO RGD:1314471 D RGD:9068941 20200609 RGD PMID:17227869|REF_RGD_ID:10043350 12405017 ODAD1 outer dynein arm docking complex subunit 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1602080 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:17576681|PMID:23261302|PMID:23261303|PMID:25741868|PMID:27637300|PMID:28492532|PMID:9536098 12405017 ODAD1 outer dynein arm docking complex subunit 1 gene DOID:0110625 primary ciliary dyskinesia 20 ISO RGD:1602080 D RGD:7240710 20180130 OMIM 12405017 ODAD1 outer dynein arm docking complex subunit 1 gene DOID:0110625 primary ciliary dyskinesia 20 ISO RGD:1602080 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 20 PMID:16199547|PMID:17576681|PMID:23261302|PMID:23261303|PMID:25741868|PMID:27637300|PMID:28492532|PMID:30067075|PMID:32111882|PMID:9536098 12405017 ODAD1 outer dynein arm docking complex subunit 1 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1602080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:25741868|PMID:28492532 12405017 ODAD1 outer dynein arm docking complex subunit 1 gene DOID:630 genetic disease ISO RGD:1602080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12405017 ODAD1 outer dynein arm docking complex subunit 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1602080 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:23261302|PMID:23261303|PMID:24033266|PMID:25741868|PMID:27637300|PMID:28492532|PMID:30067075|PMID:30291279|PMID:31213628|PMID:32111882|PMID:9536098 12405049 NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1343672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder PMID:20818383|PMID:21681106|PMID:22072591|PMID:23553477|PMID:23828044|PMID:24033266|PMID:24088041|PMID:25245479|PMID:25356970|PMID:25741868|PMID:26633545|PMID:28492532|PMID:29982452|PMID:30897263|PMID:31787496|PMID:32518176 12405049 NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial gene DOID:0060892 late onset Parkinson's disease ISO RGD:1343672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 12405049 NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1343672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532|PMID:29982452 12405049 NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial gene DOID:0112088 nuclear type mitochondrial complex I deficiency 21 ISO RGD:1343672 D RGD:7240710 20190315 OMIM 12405049 NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial gene DOID:0112088 nuclear type mitochondrial complex I deficiency 21 ISO RGD:1343672 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 PMID:16199547|PMID:20818383|PMID:22072591|PMID:23553477|PMID:23828044|PMID:24088041|PMID:25245479|PMID:25356970|PMID:25741868|PMID:26633545|PMID:28492532|PMID:29417091|PMID:29982452|PMID:30897263|PMID:31787496|PMID:31917109|PMID:32518176|PMID:33224084 12405049 NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial gene DOID:14330 Parkinson's disease ISO RGD:1343672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson's disease PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 12405049 NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial gene DOID:630 genetic disease ISO RGD:1343672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20818383|PMID:22072591|PMID:23553477|PMID:23828044|PMID:24088041|PMID:25245479|PMID:25356970|PMID:25741868|PMID:26633545|PMID:28492532|PMID:29982452|PMID:30897263|PMID:31787496|PMID:32518176|PMID:9536098 12405049 NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial gene DOID:700 mitochondrial metabolism disease ISO RGD:1343672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20818383 12405049 NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343672 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12405088 TOMM40L translocase of outer mitochondrial membrane 40 like gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1604579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12405088 TOMM40L translocase of outer mitochondrial membrane 40 like gene DOID:1540 parathyroid carcinoma ISO RGD:1604579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12405088 TOMM40L translocase of outer mitochondrial membrane 40 like gene DOID:630 genetic disease ISO RGD:1604579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12405088 TOMM40L translocase of outer mitochondrial membrane 40 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12405106 DYDC2 DPY30 domain containing 2 gene DOID:630 genetic disease ISO RGD:1352468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12405115 HMX3 H6 family homeobox 3 gene DOID:630 genetic disease ISO RGD:1603243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12405149 NPAS3 neuronal PAS domain protein 3 gene DOID:5419 schizophrenia ISO RGD:1316218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12405149 NPAS3 neuronal PAS domain protein 3 gene DOID:630 genetic disease ISO RGD:1316218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12405149 NPAS3 neuronal PAS domain protein 3 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316218 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12405166 TCEAL5 transcription elongation factor A like 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12405166 TCEAL5 transcription elongation factor A like 5 gene DOID:12849 autistic disorder ISO RGD:1354272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12405166 TCEAL5 transcription elongation factor A like 5 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1354272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:31690835 12405166 TCEAL5 transcription elongation factor A like 5 gene DOID:630 genetic disease ISO RGD:1354272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12405181 OR51A6 olfactory receptor family 51 subfamily A member 6 gene DOID:0080773 delta beta-thalassemia ISO RGD:1352941 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12405181 OR51A6 olfactory receptor family 51 subfamily A member 6 gene DOID:630 genetic disease ISO RGD:1352941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12405184 IMPDH1 inosine monophosphate dehydrogenase 1 gene DOID:0110216 Leber congenital amaurosis 11 ISO RGD:1322388 D RGD:7240710 20180130 OMIM 12405184 IMPDH1 inosine monophosphate dehydrogenase 1 gene DOID:0110216 Leber congenital amaurosis 11 ISO RGD:1322388 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 11 PMID:16384941|PMID:17851563|PMID:19480389|PMID:20045992|PMID:20238057|PMID:20718729|PMID:24244438|PMID:25741868|PMID:26558346|PMID:28492532|PMID:30718709 12405184 IMPDH1 inosine monophosphate dehydrogenase 1 gene DOID:0110388 retinitis pigmentosa 10 ISO RGD:1322388 D RGD:7240710 20180130 OMIM 12405184 IMPDH1 inosine monophosphate dehydrogenase 1 gene DOID:0110388 retinitis pigmentosa 10 ISO RGD:1322388 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 10 PMID:11875049|PMID:11875050|PMID:15851576|PMID:15882147|PMID:16384941|PMID:16671097|PMID:21791244|PMID:25741868|PMID:26720483|PMID:28492532|PMID:28945494 12405184 IMPDH1 inosine monophosphate dehydrogenase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1322388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20045992|PMID:20718729|PMID:24244438|PMID:25741868|PMID:28166811|PMID:28492532|PMID:30718709 12405184 IMPDH1 inosine monophosphate dehydrogenase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1322388 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20045992|PMID:20718729|PMID:24244438|PMID:25741868|PMID:28492532|PMID:30718709 12405184 IMPDH1 inosine monophosphate dehydrogenase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1322388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20045992|PMID:20718729|PMID:24244438|PMID:25698705|PMID:25741868|PMID:28492532|PMID:30718709 12405184 IMPDH1 inosine monophosphate dehydrogenase 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1322388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:30718709 12405184 IMPDH1 inosine monophosphate dehydrogenase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12405184 IMPDH1 inosine monophosphate dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:1322388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12405184 IMPDH1 inosine monophosphate dehydrogenase 1 gene DOID:8466 retinal degeneration ISO RGD:1551714 D RGD:9068941 20200609 RGD PMID:14981049|REF_RGD_ID:5144136 12405184 IMPDH1 inosine monophosphate dehydrogenase 1 gene DOID:8466 retinal degeneration ISO RGD:1551714 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina (mouse) PMID:11875049|REF_RGD_ID:5144221 12405184 IMPDH1 inosine monophosphate dehydrogenase 1 gene DOID:8501 fundus dystrophy ISO RGD:1322388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:28492532|PMID:9536098 12405202 SMPD2 sphingomyelin phosphodiesterase 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:732430 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 12405202 SMPD2 sphingomyelin phosphodiesterase 2 gene DOID:630 genetic disease ISO RGD:732430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12405277 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:0090139 cortisone reductase deficiency ISO RGD:737091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25526675 12405277 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:0090139 cortisone reductase deficiency ISO RGD:737091 D RGD:9068941 20200609 RGD DNA:insertion,transversion:intron:86557insA, 83597T>G (human) PMID:12858176|REF_RGD_ID:1625067 12405277 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:0090140 cortisone reductase deficiency 2 ISO RGD:737091 D RGD:7240710 20180130 OMIM 12405277 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:0090140 cortisone reductase deficiency 2 ISO RGD:737091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cortisone reductase deficiency 2 PMID:21325058|PMID:25741868 12405277 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:10763 hypertension ISO RGD:737091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15199296|PMID:21786805|PMID:9683905 12405277 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:1168 familial hyperlipidemia ISO RGD:2834 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:islet cells:diabetic but not prediabetic Zucker Diabetic Fatty (fa/fa) rats PMID:14697232|REF_RGD_ID:1625074 12405277 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:737091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12405277 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:1824 status epilepticus ISO RGD:2834 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:22050960|REF_RGD_ID:5686281 12405277 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:3042 allergic contact dermatitis ISO RGD:737091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 12405277 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:4195 hyperglycemia ISO RGD:737091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14697232 12405277 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:737091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12405277 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:737091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 12405277 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14697232 12405277 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:2834 D RGD:9068941 20200609 RGD PMID:14697232|REF_RGD_ID:1625074 12405277 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9007692 Insulin Resistance ISO RGD:737091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21786805 12405277 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9007772 Abdominal Obesity ISO RGD:737091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15199296 12405277 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12405277 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2834 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:islet cells:diabetic but not prediabetic Zucker Diabetic Fatty (fa/fa) rats PMID:14697232|REF_RGD_ID:1625074 12405277 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9970 obesity ISO RGD:10734 D RGD:9068941 20200609 RGD PMID:16612591|REF_RGD_ID:1625072 12405277 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9970 obesity ISO RGD:2834 D RGD:9068941 20200609 RGD PMID:15131764|REF_RGD_ID:1625073 12405277 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9970 obesity ISO RGD:737091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17628001|PMID:21786805 12405277 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9970 obesity ISO RGD:737091 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue:13-fold higher in obese subjects than controls, protein expression also increased PMID:16914598|REF_RGD_ID:1625071 12405303 NPAS2 neuronal PAS domain protein 2 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1320157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25956372 12405303 NPAS2 neuronal PAS domain protein 2 gene DOID:12849 autistic disorder ISO RGD:1320157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17264841 12405303 NPAS2 neuronal PAS domain protein 2 gene DOID:630 genetic disease ISO RGD:1320157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12405303 NPAS2 neuronal PAS domain protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12405303 NPAS2 neuronal PAS domain protein 2 gene DOID:9004980 Chronobiology Disorders ISO RGD:1320157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31284022 12405342 PPP1R12A protein phosphatase 1 regulatory subunit 12A gene DOID:0111223 centronuclear myopathy 1 ISO RGD:1350163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 3 PMID:28492532 12405342 PPP1R12A protein phosphatase 1 regulatory subunit 12A gene DOID:630 genetic disease ISO RGD:1350163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12405342 PPP1R12A protein phosphatase 1 regulatory subunit 12A gene DOID:9006721 GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME ISO RGD:1350163 D RGD:7240710 20200715 OMIM 12405342 PPP1R12A protein phosphatase 1 regulatory subunit 12A gene DOID:9006721 GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME ISO RGD:1350163 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Genitourinary and/or brain malformation syndrome PMID:25741868|PMID:28492532|PMID:31349857|PMID:31883643 12405388 BLVRA biliverdin reductase A gene DOID:0080600 COVID-19 ISO RGD:733010 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12405388 BLVRA biliverdin reductase A gene DOID:13580 cholestasis ISO RGD:733010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18706437 12405388 BLVRA biliverdin reductase A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12405388 BLVRA biliverdin reductase A gene DOID:630 genetic disease ISO RGD:733010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12405388 BLVRA biliverdin reductase A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12405388 BLVRA biliverdin reductase A gene DOID:9008068 Hyperbiliverdinemia ISO RGD:733010 D RGD:7240710 20180130 OMIM 12405388 BLVRA biliverdin reductase A gene DOID:9008068 Hyperbiliverdinemia ISO RGD:733010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperbiliverdinemia PMID:19580635|PMID:21278388|PMID:25741868 12405409 CASP12 caspase 12 gene DOID:1059 intellectual disability ISO RGD:1348077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12405409 CASP12 caspase 12 gene DOID:10652 Alzheimer's disease treatment ISO RGD:621758 D RGD:9068941 20200609 RGD PMID:29126976|REF_RGD_ID:13782165 12405409 CASP12 caspase 12 gene DOID:114 heart disease ISO RGD:621758 D RGD:9068941 20200609 RGD associated with Multiple Trauma PMID:28825094|REF_RGD_ID:13782301 12405409 CASP12 caspase 12 gene DOID:11446 sciatic neuropathy ISO RGD:621758 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:dorsal root ganglion PMID:29659443|REF_RGD_ID:13782273 12405409 CASP12 caspase 12 gene DOID:12704 ataxia telangiectasia ISO RGD:1348077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12405409 CASP12 caspase 12 gene DOID:2055 post-traumatic stress disorder ISO RGD:621758 D RGD:9068941 20200609 RGD PMID:25331812|REF_RGD_ID:13782181 12405409 CASP12 caspase 12 gene DOID:2316 brain ischemia ISO RGD:621758 D RGD:9068941 20200609 RGD mRNA, protein:increased expresssion:brain PMID:12598725|REF_RGD_ID:1299333 12405409 CASP12 caspase 12 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:621758 D RGD:9068941 20200609 RGD PMID:24694971|REF_RGD_ID:13782182 12405409 CASP12 caspase 12 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:621758 D RGD:9068941 20200609 RGD protein:increased activity:spinal cord PMID:16847061|REF_RGD_ID:2311466 12405409 CASP12 caspase 12 gene DOID:4989 pancreatitis ISO RGD:621758 D RGD:9068941 20200609 RGD PMID:16574987|REF_RGD_ID:2311467 12405409 CASP12 caspase 12 gene DOID:5199 ureteral obstruction treatment ISO RGD:621758 D RGD:9068941 20200609 RGD PMID:25707520|REF_RGD_ID:13782175 12405409 CASP12 caspase 12 gene DOID:6000 congestive heart failure ISO RGD:621758 D RGD:9068941 20200609 RGD associated with Hypertension PMID:18787714|REF_RGD_ID:2311453 12405409 CASP12 caspase 12 gene DOID:6000 congestive heart failure treatment ISO RGD:621758 D RGD:9068941 20200609 RGD associated with myocardial infarction PMID:27346262|REF_RGD_ID:13782169 12405409 CASP12 caspase 12 gene DOID:630 genetic disease ISO RGD:1348077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12405409 CASP12 caspase 12 gene DOID:9000039 Spinal Cord Injuries ISO RGD:621758 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19215662|REF_RGD_ID:2311450 12405409 CASP12 caspase 12 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:621758 D RGD:9068941 20200609 RGD PMID:26884858|REF_RGD_ID:11560925 12405409 CASP12 caspase 12 gene DOID:9000998 Brain Injuries severity ISO RGD:621758 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:cerebral cortex, hippocampus, neuron, astrocyte PMID:14675152|REF_RGD_ID:2311485 12405409 CASP12 caspase 12 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12405409 CASP12 caspase 12 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621758 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:16092975|REF_RGD_ID:2311470 12405409 CASP12 caspase 12 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:621758 D RGD:9068941 20200609 RGD PMID:29428101|REF_RGD_ID:13782166 12405409 CASP12 caspase 12 gene DOID:9002165 Diabetic Nephropathies ISO RGD:621758 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney PMID:19301230|REF_RGD_ID:2311449 12405409 CASP12 caspase 12 gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:621758 D RGD:9068941 20200609 RGD PMID:28544790|REF_RGD_ID:13782167 12405409 CASP12 caspase 12 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:621758 D RGD:9068941 20200609 RGD protein:increased activity:cerebral cortex, hippocampus PMID:18603371|REF_RGD_ID:2311455 12405409 CASP12 caspase 12 gene DOID:9004009 Reperfusion Injury ISO RGD:621758 D RGD:9068941 20200609 RGD PMID:18273070|REF_RGD_ID:2311461 12405409 CASP12 caspase 12 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12405409 CASP12 caspase 12 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:621758 D RGD:9068941 20200609 RGD PMID:26238033|REF_RGD_ID:13782174 12405409 CASP12 caspase 12 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:621758 D RGD:9068941 20200709 RGD associated with Crush Injuries PMID:30465396|REF_RGD_ID:34901874 12405409 CASP12 caspase 12 gene DOID:9004953 Diabetic Cystopathy ISO RGD:621758 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:urinary bladder detrusor smooth muscle PMID:26370333|REF_RGD_ID:13782173 12405409 CASP12 caspase 12 gene DOID:9005666 Contrast-Induced Nephropathy treatment ISO RGD:621758 D RGD:9068941 20200609 RGD PMID:27781957|REF_RGD_ID:13782262 12405409 CASP12 caspase 12 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:621758 D RGD:9068941 20200609 RGD associated with Experimental Diabetes Mellitus PMID:26869403|REF_RGD_ID:13782171 12405409 CASP12 caspase 12 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1348077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14998631 12405409 CASP12 caspase 12 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:621758 D RGD:9068941 20200609 RGD protein:increased activity:myocardium PMID:19406177|REF_RGD_ID:2311458 12405409 CASP12 caspase 12 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:621758 D RGD:9068941 20200609 RGD PMID:25547710|REF_RGD_ID:13782178 12405409 CASP12 caspase 12 gene DOID:9007956 Febrile Seizures ISO RGD:621758 D RGD:9068941 20200609 RGD PMID:18675883|REF_RGD_ID:2311454 12405409 CASP12 caspase 12 gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:621758 D RGD:9068941 20200709 RGD mRNA,protein:increased expression:chondrocyte PMID:31007149|REF_RGD_ID:34888237 12405409 CASP12 caspase 12 gene DOID:9352 type 2 diabetes mellitus ISO RGD:621758 D RGD:9068941 20200609 RGD PMID:23032698|REF_RGD_ID:10053698 12405409 CASP12 caspase 12 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1348077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23499715 12405409 CASP12 caspase 12 gene DOID:9744 type 1 diabetes mellitus ISO RGD:621758 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:15855338|REF_RGD_ID:2311451 12405421 TBL2 transducin beta like 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12405421 TBL2 transducin beta like 2 gene DOID:0080600 COVID-19 ISO RGD:1354068 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12405421 TBL2 transducin beta like 2 gene DOID:10907 microcephaly ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12405421 TBL2 transducin beta like 2 gene DOID:10923 sickle cell anemia ISO RGD:1354068 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12405421 TBL2 transducin beta like 2 gene DOID:12849 autistic disorder ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12405421 TBL2 transducin beta like 2 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1354068 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 12405421 TBL2 transducin beta like 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12405421 TBL2 transducin beta like 2 gene DOID:5419 schizophrenia ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12405421 TBL2 transducin beta like 2 gene DOID:630 genetic disease ISO RGD:1354068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12405421 TBL2 transducin beta like 2 gene DOID:8445 intestinal volvulus ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12405421 TBL2 transducin beta like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12405421 TBL2 transducin beta like 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12405432 LMNA lamin A/C gene DOID:0014667 disease of metabolism ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metabolic disease 12405432 LMNA lamin A/C gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:22224630|PMID:22266370|PMID:22464770|PMID:23183350|PMID:23853504|PMID:24033266|PMID:24503780|PMID:24846508|PMID:25741868|PMID:27532257|PMID:27585670|PMID:27723096|PMID:27884249|PMID:28492532|PMID:29149195|PMID:29237675|PMID:30165862|PMID:30402260|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:31303467|PMID:31447099|PMID:31829210|PMID:34363016 12405432 LMNA lamin A/C gene DOID:0050440 familial partial lipodystrophy ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy | ClinVar Annotator: match by term: Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules | ClinVar Annotator: match by term: Lipodystrophy, reverse partial PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12467734|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12669268|PMID:12702809|PMID:12784312|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18606848|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21346069|PMID:21479595|PMID:21520333|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22918509|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:25025039|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25351510|PMID:25367549|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25819867|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:26165385|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29040816|PMID:29078011|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32475984|PMID:32685188|PMID:32727917 12405432 LMNA lamin A/C gene DOID:0050440 familial partial lipodystrophy ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy | ClinVar Annotator: match by term: Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules | ClinVar Annotator: match by term: Lipodystrophy, reverse partial PMID:32746448|PMID:32818388|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33916827|PMID:33963534|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:9500556|PMID:9536098 12405432 LMNA lamin A/C gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mason type diabetes PMID:11102973|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 12405432 LMNA lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11792811|PMID:11799477|PMID:11897440|PMID:11901143|PMID:11973618|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12716787|PMID:12729796|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:13129702|PMID:14569138|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15184648|PMID:15219508|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15919811|PMID:15961312|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16084085|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16186497|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16891232|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17469202|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17987279|PMID:18031308|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18182166|PMID:18348272|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18480576|PMID:1849984|PMID:18502446|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19095983|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:20041886|PMID:2007407|PMID:20074070|PMID:20092787|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20307303|PMID:20376791|PMID:20472316|PMID:20497714|PMID:20498703|PMID:20576434|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20709679|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21315846|PMID:21346069|PMID:21462202|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21922471|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22090424|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23029315|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23243001|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23666920|PMID:23701190|PMID:23702046 12405432 LMNA lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23912926|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24349489|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24687084|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25327215|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25567453|PMID:25572245|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26323789|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26567375|PMID:26573435|PMID:26602028|PMID:26620845|PMID:26662654|PMID:26724531|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27034135|PMID:27034136|PMID:27066507|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27234031|PMID:27235420|PMID:27363342|PMID:27373676|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27534416|PMID:27585670|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27673727|PMID:27707468|PMID:27708273|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28166811|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28403181|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29047356|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29211919|PMID:29237675|PMID:29237690|PMID:29250285|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29770364|PMID:29791652|PMID:29845577|PMID:29893365|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30083363|PMID:30107846|PMID:30123186|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30954027|PMID:31019283|PMID:31293201|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31378009|PMID:31383942|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31847799|PMID:32004434|PMID:32155092|PMID:32160020|PMID:32456328|PMID:32571898|PMID:32954377|PMID:33673806|PMID:34008892|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9536098 12405432 LMNA lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11792811|PMID:11799477|PMID:11897440|PMID:11901143|PMID:11973618|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12716787|PMID:12729796|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:13129702|PMID:14569138|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15184648|PMID:15219508|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15919811|PMID:15961312|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16084085|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16186497|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16891232|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17893350|PMID:17987279|PMID:18031308|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18182166|PMID:18348272|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18480576|PMID:1849984|PMID:18502446|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19095983|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:20041886|PMID:2007407|PMID:20074070|PMID:20092787|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20307303|PMID:20376791|PMID:20472316|PMID:20497714|PMID:20498703|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20709679|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21315846|PMID:21346069|PMID:21462202|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21922471|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22090424|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23029315|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23243001|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510 12405432 LMNA lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23666920|PMID:23701190|PMID:23702046|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23912926|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24349489|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24687084|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25327215|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25572245|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26323789|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26567375|PMID:26573435|PMID:26602028|PMID:26620845|PMID:26662654|PMID:26670336|PMID:26724531|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27034135|PMID:27034136|PMID:27066507|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27234031|PMID:27235420|PMID:27363342|PMID:27373676|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27534416|PMID:27585670|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27673727|PMID:27707468|PMID:27708273|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28166811|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28403181|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29047356|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29211919|PMID:29237675|PMID:29237690|PMID:29250285|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29770364|PMID:29791652|PMID:29845577|PMID:29893365|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30083363|PMID:30107846|PMID:30123186|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31293201|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31378009|PMID:31383942|PMID:31447099|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31847799|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32456328|PMID:32571898|PMID:32880476|PMID:32943904|PMID:32954377|PMID:33673806|PMID:34008892|PMID:34213952|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9536098 12405432 LMNA lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24169522|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27034136|PMID:27066507|PMID:27153395|PMID:27182706|PMID:27220833|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29845577|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30107846|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31296869|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31498906|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32456328|PMID:32571898|PMID:32746448|PMID:32793522|PMID:32880476|PMID:32943904|PMID:32954377|PMID:33258288|PMID:33673806|PMID:34008892|PMID:34213952|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9536098 12405432 LMNA lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24169522|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27034136|PMID:27066507|PMID:27153395|PMID:27182706|PMID:27220833|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29845577|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30107846|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31296869|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31498906|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32456328|PMID:32571898|PMID:32746448|PMID:32793522|PMID:32880476|PMID:32943904|PMID:32954377|PMID:33258288|PMID:33673806|PMID:34008892|PMID:34213952|PMID:35535697|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9536098 12405432 LMNA lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11792811|PMID:11799477|PMID:11897440|PMID:11901143|PMID:11973618|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12729796|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14569138|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15184648|PMID:15219508|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15476822|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15843404|PMID:15866440|PMID:15919811|PMID:15961312|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16084085|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16478798|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16891232|PMID:16965317|PMID:16990647|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:1737707|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17935239|PMID:17967828|PMID:17987279|PMID:18031308|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18480576|PMID:1849984|PMID:18502446|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19095983|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:20041886|PMID:2007407|PMID:20074070|PMID:20092787|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20472316|PMID:20497714|PMID:20498703|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20837309|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21315846|PMID:21346069|PMID:21462202|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21945321|PMID:21970986|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22090424|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055 12405432 LMNA lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:2270059|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23029315|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23243001|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23666920|PMID:23701190|PMID:23702046|PMID:23703017|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23912926|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24034385|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24349489|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24687084|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25001855|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25256213|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25327215|PMID:25343322|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25481314|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25572245|PMID:25617006|PMID:25637381|PMID:25640679|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25832542|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26027246|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26220970|PMID:26323789|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26567375|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26620845|PMID:26659599|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27034135|PMID:27066507|PMID:27100822|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27234031|PMID:27235420|PMID:27332903|PMID:27363342|PMID:27373676|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27461183|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27534416|PMID:27585670|PMID:27595935|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27673727|PMID:27707468|PMID:27708273|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28403181|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:28987496|PMID:29047356|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29104234|PMID:29121657|PMID:29149195|PMID:29211919|PMID:29237675|PMID:29237690|PMID:29250285|PMID:29267953|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29770364|PMID:29791652|PMID:29845577|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30055862|PMID:30078822|PMID:30083363|PMID:30107846|PMID:30123186|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30572990|PMID:30696354|PMID:30765282 12405432 LMNA lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31069529|PMID:31194872|PMID:31263448|PMID:31264968|PMID:31270292|PMID:31293201|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31322791|PMID:31378009|PMID:31383942|PMID:31434876|PMID:31447099|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31791368|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32458740|PMID:32475984|PMID:32528171|PMID:32548202|PMID:32571898|PMID:32666643|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32943904|PMID:32954377|PMID:33250842|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33940562|PMID:33963534|PMID:34008892|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34360639|PMID:34363016|PMID:34638534|PMID:34680903|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:4684700|PMID:4740717|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098 12405432 LMNA lamin A/C gene DOID:0050557 congenital muscular dystrophy ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:15770669|PMID:25741868|PMID:26467025|PMID:26900797|PMID:28492532|PMID:33293369 12405432 LMNA lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:31525256|PMID:31744510|PMID:31836692|PMID:31857427|PMID:32004434|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32456328|PMID:32746448|PMID:32793522|PMID:32880476|PMID:33258288|PMID:9536098 12405432 LMNA lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12702809|PMID:12716787|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15539782|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21179469|PMID:21315846|PMID:21520333|PMID:21535365|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21883346|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:2280636|PMID:22806367|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30137533 12405432 LMNA lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32880476|PMID:33258288|PMID:33293369|PMID:33422685|PMID:33458588|PMID:33673806|PMID:34135346|PMID:34240052|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:9536098 12405432 LMNA lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12702809|PMID:12716787|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15539782|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21179469|PMID:21315846|PMID:21465660|PMID:21520333|PMID:21535365|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21883346|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:2280636|PMID:22806367|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954 12405432 LMNA lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:30012837|PMID:30019023|PMID:30137533|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:34135346|PMID:34240052|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:9536098 12405432 LMNA lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12702809|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15539782|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21179469|PMID:21315846|PMID:21520333|PMID:21535365|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21883346|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27199538|PMID:27332903|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27633507|PMID:27707468|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690 12405432 LMNA lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33963534|PMID:34135346|PMID:34240052|PMID:34360639|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:9536098 12405432 LMNA lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12702809|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15539782|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21179469|PMID:21315846|PMID:21520333|PMID:21535365|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27199538|PMID:27332903|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27633507|PMID:27707468|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29149195 12405432 LMNA lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34135346|PMID:34240052|PMID:34360639|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:9536098 12405432 LMNA lamin A/C gene DOID:0050820 atrioventricular block ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10580070 12405432 LMNA lamin A/C gene DOID:0050820 atrioventricular block ISO RGD:732790 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G613A (human) PMID:25469153|REF_RGD_ID:12791032 12405432 LMNA lamin A/C gene DOID:0060480 left ventricular noncompaction ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:19318026|PMID:21846512|PMID:22224630|PMID:22266370|PMID:22464770|PMID:23183350|PMID:23853504|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25163546|PMID:25741868|PMID:26404900|PMID:27532257|PMID:27585670|PMID:27723096|PMID:28492532|PMID:28663758|PMID:29149195|PMID:29237675|PMID:29970176|PMID:30165862|PMID:30528549|PMID:30847666|PMID:30871747|PMID:30919684|PMID:31303467|PMID:31383942|PMID:31476771|PMID:31744510|PMID:31829210|PMID:32041611|PMID:32826072 12405432 LMNA lamin A/C gene DOID:0060586 Noonan syndrome 8 ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 12405432 LMNA lamin A/C gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:12376891|PMID:12467752|PMID:14597414|PMID:15372542|PMID:15843404|PMID:17107595|PMID:19524666|PMID:23861362|PMID:23977161|PMID:24033266|PMID:24503780|PMID:24623722|PMID:24794538|PMID:25448463|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28531892|PMID:30420677|PMID:32041611|PMID:32376792|PMID:32793522|PMID:32880476 12405432 LMNA lamin A/C gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:12376891|PMID:12467752|PMID:14597414|PMID:15372542|PMID:15843404|PMID:17107595|PMID:19524666|PMID:23861362|PMID:23977161|PMID:24033266|PMID:24503780|PMID:24623722|PMID:24794538|PMID:25448463|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28531892|PMID:30420677|PMID:32041611|PMID:32376792|PMID:32793522|PMID:32880476 12405432 LMNA lamin A/C gene DOID:0060762 restrictive dermopathy ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fetal hypokinesia sequence due to restrictive dermopathy | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome PMID:10080180|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11503164|PMID:11792809|PMID:12524233|PMID:12629077|PMID:12647844|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14749366|PMID:15140538|PMID:15475483|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16364671|PMID:16415042|PMID:16440304|PMID:17274801|PMID:17377071|PMID:17576681|PMID:17893350|PMID:18396274|PMID:18414213|PMID:18549403|PMID:18728124|PMID:18795223|PMID:19011997|PMID:19201734|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19859838|PMID:2007407|PMID:20130076|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21846512|PMID:22326558|PMID:22700598|PMID:22918509|PMID:23183350|PMID:23313286|PMID:23328570|PMID:2338570|PMID:23427149|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24055113|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:25163546|PMID:25214167|PMID:25637381|PMID:25741868|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26900797|PMID:27332903|PMID:27506821|PMID:27532257|PMID:27813223|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28785654|PMID:28790152|PMID:29040816|PMID:29237675|PMID:29693488|PMID:29791652|PMID:29952368|PMID:29970176|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30564623|PMID:30847666|PMID:30919684|PMID:31194872|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31744510|PMID:31836692|PMID:31857427|PMID:31980526|PMID:32041611|PMID:32376792|PMID:32727917|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33293369|PMID:33407844|PMID:34999423|PMID:9536098 12405432 LMNA lamin A/C gene DOID:0060843 hereditary neuropathy with liability to pressure palsies ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary liability to pressure palsies PMID:16288874 12405432 LMNA lamin A/C gene DOID:0070074 autosomal dominant intellectual developmental disorder 44 ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY PMID:23062543|PMID:23183350|PMID:24846508|PMID:25741868|PMID:28492532|PMID:28663758|PMID:30847666 12405432 LMNA lamin A/C gene DOID:0070202 familial partial lipodystrophy type 2 ISO RGD:732790 D RGD:7240710 20180912 OMIM 12405432 LMNA lamin A/C gene DOID:0070202 familial partial lipodystrophy type 2 ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy, Dunnigan type | ClinVar Annotator: match by term: Partial lipodystrophy, Dunnigan PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11792811|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12075506|PMID:12196663|PMID:12467734|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12669268|PMID:12702809|PMID:12729796|PMID:12784312|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15060110|PMID:15140538|PMID:15219508|PMID:15298354|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16278265|PMID:16364671|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16636128|PMID:16671095|PMID:16715312|PMID:16809772|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19169477|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19574635|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19933576|PMID:20041886|PMID:2007407|PMID:20074070|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21346069|PMID:21479595|PMID:21520333|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:2270059|PMID:22700598|PMID:23062543|PMID:23183350|PMID:23243001|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:25025039|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25982065|PMID:26027246|PMID:26084686|PMID:26165385|PMID:26183555|PMID:26220970|PMID:26383259|PMID:26392352|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29040816|PMID:29078011|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31293201|PMID:31303467 12405432 LMNA lamin A/C gene DOID:0070202 familial partial lipodystrophy type 2 ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy, Dunnigan type | ClinVar Annotator: match by term: Partial lipodystrophy, Dunnigan PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32475984|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32846814|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33916827|PMID:33963534|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:9500556|PMID:9536098 12405432 LMNA lamin A/C gene DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 ISO RGD:732790 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures PMID:11102973|PMID:11503164|PMID:12376891|PMID:12467752|PMID:12629077|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14615128|PMID:15140538|PMID:15372542|PMID:15475483|PMID:15843404|PMID:15998779|PMID:16174718|PMID:17107595|PMID:17377071|PMID:17576681|PMID:18414213|PMID:18549403|PMID:18795223|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19638735|PMID:19680556|PMID:20848652|PMID:22326558|PMID:23183350|PMID:23328570|PMID:2338570|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24055113|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24768879|PMID:24794538|PMID:25214167|PMID:25448463|PMID:25637381|PMID:25741868|PMID:26183555|PMID:26220970|PMID:26467025|PMID:26602028|PMID:26752647|PMID:27332903|PMID:27506821|PMID:27532257|PMID:27813223|PMID:27884249|PMID:27896052|PMID:28492532|PMID:28531892|PMID:28663758|PMID:28679633|PMID:28785654|PMID:28790152|PMID:29237675|PMID:29693488|PMID:29952368|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30564623|PMID:30847666|PMID:31476771|PMID:31980526|PMID:32041611|PMID:32376792|PMID:32727917|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:34999423|PMID:9536098 12405432 LMNA lamin A/C gene DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ISO RGD:732790 D RGD:7240710 20180912 OMIM 12405432 LMNA lamin A/C gene DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11897440|PMID:12032588|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15744034|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16364671|PMID:16386954|PMID:16415042|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:17136397|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20530761|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24990833|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25343322|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29895224|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32727917 12405432 LMNA lamin A/C gene DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B PMID:32818388|PMID:32880476|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34768595|PMID:34999423|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 12405432 LMNA lamin A/C gene DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 ISO RGD:732790 D RGD:7240710 20180523 OMIM 12405432 LMNA lamin A/C gene DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11561226|PMID:11792809|PMID:11897440|PMID:12524233|PMID:12647844|PMID:12669268|PMID:12920062|PMID:12927424|PMID:14510863|PMID:14659775|PMID:14749366|PMID:15060110|PMID:15298354|PMID:15531479|PMID:15770669|PMID:16181372|PMID:16199547|PMID:16364671|PMID:16415042|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:17524034|PMID:17711925|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18551513|PMID:18585512|PMID:18606848|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19574635|PMID:19622949|PMID:19638735|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20848652|PMID:21479595|PMID:21520333|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25025039|PMID:2526018|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27884249|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31977013|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34768595|PMID:9500556 12405432 LMNA lamin A/C gene DOID:0070369 restrictive dermopathy 1 ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 1 | ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 1, LETHAL PMID:10587585|PMID:10655060|PMID:10739751|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11503164|PMID:11792809|PMID:12524233|PMID:12629077|PMID:12647844|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14615128|PMID:15140538|PMID:15475483|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16364671|PMID:16415042|PMID:17377071|PMID:17576681|PMID:17893350|PMID:18414213|PMID:18549403|PMID:18728124|PMID:18795223|PMID:19011997|PMID:19201734|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19859838|PMID:2007407|PMID:20130076|PMID:20625965|PMID:20848652|PMID:21846512|PMID:22326558|PMID:22700598|PMID:22918509|PMID:23183350|PMID:23313286|PMID:23328570|PMID:2338570|PMID:23427149|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24055113|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24768879|PMID:25163546|PMID:25214167|PMID:25637381|PMID:25741868|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26404900|PMID:26467025|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26900797|PMID:27332903|PMID:27506821|PMID:27532257|PMID:27813223|PMID:27884249|PMID:27896052|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28785654|PMID:28790152|PMID:29237675|PMID:29693488|PMID:29791652|PMID:29952368|PMID:29970176|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30564623|PMID:30847666|PMID:30919684|PMID:31194872|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31744510|PMID:31836692|PMID:31857427|PMID:31980526|PMID:32041611|PMID:32376792|PMID:32727917|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33293369|PMID:33407844|PMID:34999423|PMID:9536098 12405432 LMNA lamin A/C gene DOID:0070370 restrictive dermopathy 2 ISO RGD:732790 D RGD:7240710 20230505 OMIM 12405432 LMNA lamin A/C gene DOID:0070370 restrictive dermopathy 2 ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL | ClinVar Annotator: match by term: Restrictive dermopathy 2 PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11799477|PMID:11897440|PMID:12524233|PMID:12669268|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12920062|PMID:14510863|PMID:14659775|PMID:14749366|PMID:15032975|PMID:15060110|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15531479|PMID:15770669|PMID:15793835|PMID:15982412|PMID:16126733|PMID:16181372|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16738054|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17711925|PMID:17987279|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18551513|PMID:18585512|PMID:18795223|PMID:18926329|PMID:19172989|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19574635|PMID:19622949|PMID:19638735|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20307303|PMID:20497714|PMID:20580717|PMID:20625965|PMID:20848652|PMID:21251803|PMID:21479595|PMID:21520333|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22148005|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22893709|PMID:23141186|PMID:23183350|PMID:23299917|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24058181|PMID:24108105|PMID:24305605|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25025039|PMID:2526018|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25649378|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25946677|PMID:26027246|PMID:26084686|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26662654|PMID:26670336|PMID:26724531|PMID:26733286|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27884249|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28790152|PMID:28807990|PMID:28878338|PMID:28878402|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31476771|PMID:31744510|PMID:31829210|PMID:31977013|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32297714|PMID:32376792|PMID:32818388|PMID:32880476|PMID:32943904|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34768595|PMID:9500556 12405432 LMNA lamin A/C gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:12057196|PMID:16407522|PMID:16585054|PMID:17576681|PMID:18414213|PMID:18714801|PMID:19589617|PMID:20627339|PMID:21535365|PMID:22071332|PMID:23142632|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25525159|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28518168|PMID:28663758|PMID:28679633|PMID:29095976|PMID:29237690|PMID:31019283|PMID:31333075|PMID:31476771|PMID:31568572|PMID:32376792|PMID:33673806|PMID:34240052|PMID:8621584|PMID:9536098 12405432 LMNA lamin A/C gene DOID:0080334 aortic valve disease 2 ISO RGD:732790 D RGD:9068941 20200609 RGD protein:decreased expression:aorta wall, nucleus (human) PMID:24560417|REF_RGD_ID:12791292 12405432 LMNA lamin A/C gene DOID:0081127 mandibuloacral dysplasia ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mandibuloacral dysplasia PMID:10739764|PMID:11503164|PMID:12075506|PMID:12788894|PMID:14627682|PMID:16364671|PMID:17848409|PMID:18604166|PMID:19764019|PMID:25324471|PMID:25741868|PMID:25823658|PMID:28492532|PMID:32041611|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34680903 12405432 LMNA lamin A/C gene DOID:0081128 mandibuloacral dysplasia type A lipodystrophy ISO RGD:732790 D RGD:7240710 20180130 OMIM 12405432 LMNA lamin A/C gene DOID:0081128 mandibuloacral dysplasia type A lipodystrophy ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia | ClinVar Annotator: match by term: Mandibuloacral dysostosis | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy, atypical PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11897440|PMID:12075506|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12669268|PMID:12768443|PMID:12784312|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14749366|PMID:15060110|PMID:15140538|PMID:15286156|PMID:15298354|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16772334|PMID:16809772|PMID:17250669|PMID:17274801|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17848409|PMID:17893350|PMID:17935239|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21479595|PMID:21520333|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22918509|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24861648|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25982065|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27199538|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29040816|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32456328|PMID:32475984|PMID:32727917 12405432 LMNA lamin A/C gene DOID:0081128 mandibuloacral dysplasia type A lipodystrophy ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia | ClinVar Annotator: match by term: Mandibuloacral dysostosis | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy, atypical PMID:32746448|PMID:32818388|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33916827|PMID:33963534|PMID:34135346|PMID:34680903|PMID:34768595|PMID:34999423|PMID:35535697|PMID:9500556|PMID:9536098 12405432 LMNA lamin A/C gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:25741868 12405432 LMNA lamin A/C gene DOID:0110156 Charcot-Marie-Tooth disease type 2B1 ISO RGD:732790 D RGD:7240710 20180130 OMIM 12405432 LMNA lamin A/C gene DOID:0110156 Charcot-Marie-Tooth disease type 2B1 ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2B1 PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12467734|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15744034|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:17250669|PMID:17274801|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21479595|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29040816|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33916827|PMID:33963534|PMID:34768595|PMID:34862408|PMID:34999423 12405432 LMNA lamin A/C gene DOID:0110156 Charcot-Marie-Tooth disease type 2B1 ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2B1 PMID:35449878|PMID:35535697|PMID:9500556|PMID:9536098 12405432 LMNA lamin A/C gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:12920062|PMID:15475483|PMID:15998779|PMID:17377071|PMID:17576681|PMID:18414213|PMID:18549403|PMID:18795223|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19638735|PMID:23861362|PMID:24001739|PMID:24033266|PMID:24721642|PMID:25741868|PMID:26467025|PMID:26602028|PMID:27896052|PMID:28492532|PMID:28679633|PMID:28785654|PMID:9536098 12405432 LMNA lamin A/C gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:11102973|PMID:12920062|PMID:15475483|PMID:15998779|PMID:17377071|PMID:17576681|PMID:18414213|PMID:18549403|PMID:18795223|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19638735|PMID:21465660|PMID:23861362|PMID:24001739|PMID:24033266|PMID:24721642|PMID:25741868|PMID:26467025|PMID:26602028|PMID:27896052|PMID:28492532|PMID:28679633|PMID:28785654|PMID:29237675|PMID:29952368|PMID:30402260|PMID:32818388|PMID:33407844|PMID:9536098 12405432 LMNA lamin A/C gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:11102973|PMID:12920062|PMID:15475483|PMID:15998779|PMID:17377071|PMID:17576681|PMID:18414213|PMID:18549403|PMID:18795223|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19638735|PMID:23861362|PMID:24001739|PMID:24033266|PMID:24721642|PMID:25741868|PMID:26467025|PMID:26602028|PMID:27896052|PMID:28492532|PMID:28679633|PMID:28785654|PMID:29237675|PMID:29952368|PMID:30402260|PMID:32818388|PMID:33407844|PMID:9536098 12405432 LMNA lamin A/C gene DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B ISO RGD:732790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B PMID:18585512|PMID:18926329|PMID:25741868|PMID:28492532|PMID:31263448 12405432 LMNA lamin A/C gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10580070|PMID:16407522|PMID:16585054|PMID:18414213|PMID:18714801|PMID:20627339|PMID:22071332|PMID:23142632|PMID:24033266|PMID:24503780|PMID:24846508|PMID:25525159|PMID:25741868|PMID:27532257|PMID:27760138|PMID:28492532|PMID:28518168|PMID:28663758|PMID:28679633|PMID:29095976|PMID:29237690|PMID:31019283|PMID:31476771|PMID:33673806|PMID:34240052|PMID:8621584 12405432 LMNA lamin A/C gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10580070|PMID:16407522|PMID:16585054|PMID:17576681|PMID:18414213|PMID:18714801|PMID:20627339|PMID:22071332|PMID:23142632|PMID:24033266|PMID:24503780|PMID:24846508|PMID:25525159|PMID:25741868|PMID:27532257|PMID:27760138|PMID:28492532|PMID:28518168|PMID:28663758|PMID:28679633|PMID:29095976|PMID:29237690|PMID:31019283|PMID:31476771|PMID:32376792|PMID:33673806|PMID:34240052|PMID:8621584|PMID:9536098 12405432 LMNA lamin A/C gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:732790 D RGD:7240710 20180919 OMIM 12405432 LMNA lamin A/C gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12196663|PMID:12467734|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15219508|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15972724|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17274801|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19167105|PMID:19169477|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20074070|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20625965|PMID:20627339|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:2270059|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25343322|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27235420|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052 12405432 LMNA lamin A/C gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878402|PMID:28912206|PMID:29040816|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33963534|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34999423|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 12405432 LMNA lamin A/C gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12196663|PMID:12467734|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15219508|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15972724|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17274801|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19167105|PMID:19169477|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20074070|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20625965|PMID:20627339|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:2270059|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25343322|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27235420|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249 12405432 LMNA lamin A/C gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878402|PMID:28912206|PMID:29040816|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 12405432 LMNA lamin A/C gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12467734|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14607793|PMID:14615128|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:16965317|PMID:17250669|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19167105|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25343322|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195 12405432 LMNA lamin A/C gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:29237675|PMID:29237690|PMID:29382405|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 12405432 LMNA lamin A/C gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:11897440|PMID:12376891|PMID:12467752|PMID:14597414|PMID:15372542|PMID:15843404|PMID:16715312|PMID:17107595|PMID:17612587|PMID:17711925|PMID:17987279|PMID:18182166|PMID:18585512|PMID:18926329|PMID:19318026|PMID:19524666|PMID:19875404|PMID:21840938|PMID:21846512|PMID:23183350|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24058181|PMID:24503780|PMID:24623722|PMID:24794538|PMID:25448463|PMID:25469153|PMID:25741868|PMID:26467025|PMID:26899768|PMID:27026223|PMID:27373676|PMID:27421120|PMID:27506821|PMID:27532257|PMID:28492532|PMID:28531892|PMID:28759816|PMID:28878402|PMID:29237675|PMID:29943882|PMID:30007954|PMID:30178466|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30765282|PMID:30847666|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31737537|PMID:31977013|PMID:31983221|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32376792|PMID:32793522|PMID:32880476|PMID:33673806|PMID:34363016 12405432 LMNA lamin A/C gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:11897440|PMID:15219508|PMID:15539782|PMID:16061563|PMID:16537768|PMID:17334235|PMID:18795223|PMID:19589617|PMID:20307303|PMID:22199124|PMID:22918509|PMID:23183350|PMID:23349452|PMID:23701190|PMID:24033266|PMID:24386194|PMID:25741868|PMID:25988045|PMID:26199943|PMID:26332594|PMID:26899768|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29791652|PMID:31857427 12405432 LMNA lamin A/C gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct PMID:21465660|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26602028|PMID:28492532 12405432 LMNA lamin A/C gene DOID:0110640 congenital muscular dystrophy due to LMNA mutation ISO RGD:732790 D RGD:7240710 20180130 OMIM 12405432 LMNA lamin A/C gene DOID:0110640 congenital muscular dystrophy due to LMNA mutation ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutation | ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-related PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11897440|PMID:12057196|PMID:12075506|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12669268|PMID:12768443|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14749366|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15622532|PMID:15770669|PMID:15961312|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:17250669|PMID:17274801|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17881656|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18606848|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21479595|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22090424|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22918509|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24721642|PMID:24768879|PMID:24806962|PMID:24846508|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25326635|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25982065|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27199538|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27600705|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29040816|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434 12405432 LMNA lamin A/C gene DOID:0110640 congenital muscular dystrophy due to LMNA mutation ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutation | ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-related PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32571898|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33916827|PMID:33963534|PMID:34008892|PMID:34768595|PMID:34999423|PMID:35535697|PMID:9500556|PMID:9536098 12405432 LMNA lamin A/C gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy PMID:18585512|PMID:18926329|PMID:25741868|PMID:25886484|PMID:28152038|PMID:28492532 12405432 LMNA lamin A/C gene DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome ISO RGD:732790 D RGD:7240710 20180130 OMIM 12405432 LMNA lamin A/C gene DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | ClinVar Annotator: match by term: Genital anomaly with cardiomyopathy PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11792809|PMID:11897440|PMID:12467752|PMID:12524233|PMID:12647844|PMID:12669268|PMID:12920062|PMID:12927424|PMID:12927431|PMID:13129702|PMID:14510863|PMID:14607793|PMID:14659775|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15219508|PMID:15298354|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15770669|PMID:15965218|PMID:16181372|PMID:16199547|PMID:16364671|PMID:16415042|PMID:16459536|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:17150192|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19283854|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19446900|PMID:19574635|PMID:19622949|PMID:19638735|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20074070|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20848652|PMID:21479595|PMID:21520333|PMID:21831885|PMID:21840938|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22103509|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:2270059|PMID:22700598|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25025039|PMID:25163546|PMID:2526018|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:26383259|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26662654|PMID:26724531|PMID:26733286|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27633507|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27884249|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31977013|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34768595|PMID:9500556|PMID:9536098 12405432 LMNA lamin A/C gene DOID:0111940 immunodeficiency 42 ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12405432 LMNA lamin A/C gene DOID:0112096 nuclear type mitochondrial complex I deficiency 16 ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 PMID:11799477|PMID:12467734|PMID:14607793|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17711925|PMID:17760566|PMID:18549403|PMID:22331516|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30340945|PMID:30420677|PMID:34862408|PMID:35449878 12405432 LMNA lamin A/C gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12405432 LMNA lamin A/C gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12405432 LMNA lamin A/C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10587585|PMID:10655060|PMID:10739751|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17377071|PMID:17848409|PMID:18348272|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18926329|PMID:19220582|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21520333|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22526018|PMID:22570643|PMID:23062543|PMID:23183350|PMID:23349452|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:27000522|PMID:27153395|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27723096|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29943882|PMID:30007954|PMID:30012837|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31744510|PMID:32456328|PMID:8621584 12405432 LMNA lamin A/C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732790 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10587585|PMID:10655060|PMID:10739751|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17377071|PMID:17848409|PMID:18348272|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18926329|PMID:19220582|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21520333|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22526018|PMID:22570643|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:27000522|PMID:27153395|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27723096|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29943882|PMID:30007954|PMID:30012837|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31744510|PMID:32376792|PMID:32456328|PMID:32880476|PMID:8621584 12405432 LMNA lamin A/C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:11503164|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12669268|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14510863|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16181372|PMID:16364671|PMID:16459536|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17377071|PMID:17524034|PMID:17711925|PMID:17848409|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18585512|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21465660|PMID:21479595|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23427149|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31514951|PMID:31744510|PMID:32041611|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34363016|PMID:34680903|PMID:34768595|PMID:8621584|PMID:9500556 12405432 LMNA lamin A/C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:11503164|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12669268|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14510863|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16181372|PMID:16364671|PMID:16459536|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17848409|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18585512|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21479595|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23427149|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31514951|PMID:31744510|PMID:32041611|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34363016|PMID:34680903|PMID:34768595|PMID:8621584|PMID:9500556|PMID:9536098 12405432 LMNA lamin A/C gene DOID:10754 otitis media ISO RGD:732791 D RGD:9068941 20220825 MouseDO OMIM:166760 12405432 LMNA lamin A/C gene DOID:11612 polycystic ovary syndrome ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12405432 LMNA lamin A/C gene DOID:11712 lipoatrophic diabetes mellitus ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy 2 PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12467734|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12669268|PMID:12702809|PMID:12784312|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14607793|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16415042|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18606848|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19574635|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20625965|PMID:20848652|PMID:21346069|PMID:21479595|PMID:21520333|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24768879|PMID:24846508|PMID:25025039|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25351510|PMID:25367549|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25819867|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:26165385|PMID:26183555|PMID:26220970|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32475984|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33916827|PMID:33963534|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:9500556|PMID:9536098 12405432 LMNA lamin A/C gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10814726|PMID:12032588|PMID:30055862 12405432 LMNA lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10080180|PMID:10580070|PMID:10655060|PMID:10662742|PMID:10739764|PMID:10814726|PMID:10939567|PMID:11138304|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11901143|PMID:12032588|PMID:12057196|PMID:12196663|PMID:12376891|PMID:12467752|PMID:12628721|PMID:12629077|PMID:12649505|PMID:12673789|PMID:12748643|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15140538|PMID:15148145|PMID:15372542|PMID:15475483|PMID:15668447|PMID:15744034|PMID:15998779|PMID:16174718|PMID:16218190|PMID:16386954|PMID:16440304|PMID:16772334|PMID:17107595|PMID:17136397|PMID:17274801|PMID:17377071|PMID:17576681|PMID:18035086|PMID:1839274|PMID:18396274|PMID:18414213|PMID:1849984|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18795223|PMID:18926329|PMID:19084400|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19882644|PMID:19933576|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20498703|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21535365|PMID:21632249|PMID:21840938|PMID:22224630|PMID:22266370|PMID:22326558|PMID:22431096|PMID:22464770|PMID:2280636|PMID:22883396|PMID:22918509|PMID:23183350|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24055113|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24990833|PMID:25214167|PMID:25326637|PMID:25448463|PMID:25637381|PMID:25741868|PMID:25948554|PMID:25987458|PMID:26098624|PMID:26183555|PMID:26332594|PMID:26443318|PMID:26467025|PMID:26602028|PMID:26752647|PMID:27220833|PMID:27374873|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27717888|PMID:27723096|PMID:27813223|PMID:27854218|PMID:27896052|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28785654|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29791652|PMID:30055862|PMID:30165862|PMID:30528549|PMID:30847666|PMID:30871747|PMID:31303467|PMID:31383942|PMID:31829210|PMID:31857427|PMID:32041611|PMID:32376792|PMID:32571898|PMID:32793522|PMID:34008892|PMID:8619549|PMID:9106535|PMID:9536098 12405432 LMNA lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11136544|PMID:11138304|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11901143|PMID:12032588|PMID:12057196|PMID:12196663|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12673789|PMID:12748643|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15140538|PMID:15148145|PMID:15372542|PMID:15475483|PMID:15668447|PMID:15744034|PMID:15843404|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16364671|PMID:16386954|PMID:16415042|PMID:16440304|PMID:16772334|PMID:17107595|PMID:17136397|PMID:17274801|PMID:17377071|PMID:17576681|PMID:17893350|PMID:18035086|PMID:1839274|PMID:18396274|PMID:18414213|PMID:1849984|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20498703|PMID:20530761|PMID:20625965|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21535365|PMID:21632249|PMID:21840938|PMID:21846512|PMID:22224630|PMID:22266370|PMID:22326558|PMID:22431096|PMID:22464770|PMID:22700598|PMID:2280636|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23142632|PMID:23183350|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24055113|PMID:24237251|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24990833|PMID:25214167|PMID:25326637|PMID:25448463|PMID:25637381|PMID:25741868|PMID:25948554|PMID:25987458|PMID:26098624|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26443318|PMID:26467025|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26752647|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27717888|PMID:27723096|PMID:27813223|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28785654|PMID:28790152|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29693488|PMID:29791652|PMID:29895224|PMID:30055862|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31980526|PMID:32041611|PMID:32376792|PMID:32571898|PMID:32727917|PMID:32793522|PMID:32880476|PMID:34008892|PMID:34999423|PMID:8619549|PMID:9106535|PMID:9536098 12405432 LMNA lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11897440|PMID:11901143|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12748643|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15476822|PMID:15531479|PMID:15668447|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16364671|PMID:16386954|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16772334|PMID:17107595|PMID:17136397|PMID:17274801|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:1849984|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20498703|PMID:20530761|PMID:20625965|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23077635|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24349489|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24990833|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25326637|PMID:25343322|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25982065|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27717888|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304 12405432 LMNA lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30083363|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31434876|PMID:31447099|PMID:31476771|PMID:31498906|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32528171|PMID:32571898|PMID:32727917|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33250842|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34008892|PMID:34240052|PMID:34768595|PMID:34862408|PMID:34999423|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 12405432 LMNA lamin A/C gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23183350|PMID:23328570|PMID:2338570|PMID:24033266|PMID:24503780|PMID:24768879|PMID:25741868|PMID:26183555|PMID:26220970|PMID:26752647|PMID:27532257|PMID:27813223|PMID:28492532|PMID:28531892|PMID:28663758|PMID:28790152|PMID:29693488|PMID:30326651|PMID:30402260|PMID:30564623|PMID:31476771|PMID:32880476 12405432 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10612827|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10814726|PMID:10908904|PMID:10939567|PMID:11102526|PMID:11102973|PMID:11138304|PMID:11180602|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12075506|PMID:12196663|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:14627682|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16386954|PMID:16407522|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17599607|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19318026|PMID:19328042|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19875404|PMID:19882644|PMID:19933576|PMID:20155465|PMID:20160190|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21980471|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26084686|PMID:26332594|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26602028|PMID:26670336|PMID:26899768|PMID:27000522|PMID:27153395|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27723096|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29497013|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837 12405432 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:32004434|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32880476|PMID:32943904|PMID:33673806|PMID:34213952|PMID:8621584 12405432 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10612827|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10814726|PMID:10908904|PMID:10939567|PMID:11102526|PMID:11102973|PMID:11138304|PMID:11180602|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12196663|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16386954|PMID:16407522|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17599607|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19318026|PMID:19328042|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19875404|PMID:19882644|PMID:19933576|PMID:20155465|PMID:20160190|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21980471|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25946677|PMID:25948554|PMID:25987458|PMID:25988045|PMID:26084686|PMID:26332594|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26602028|PMID:26670336|PMID:26899768|PMID:27000522|PMID:27153395|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27723096|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29497013|PMID:29693488|PMID:29791652|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31264968|PMID:31303467|PMID:31383942 12405432 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31857427|PMID:31977013|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32746448|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33673806|PMID:34213952|PMID:35535697|PMID:8621584 12405432 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10612827|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10814726|PMID:10908904|PMID:10939567|PMID:11102526|PMID:11102973|PMID:11138304|PMID:11180602|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12196663|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16386954|PMID:16407522|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17599607|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19318026|PMID:19328042|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19875404|PMID:19882644|PMID:19933576|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21980471|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25946677|PMID:25948554|PMID:25987458|PMID:25988045|PMID:26084686|PMID:26332594|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26602028|PMID:26670336|PMID:26899768|PMID:27000522|PMID:27153395|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27723096|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29497013|PMID:29693488|PMID:29791652|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31264968 12405432 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:31303467|PMID:31383942|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31857427|PMID:31977013|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32746448|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33673806|PMID:34213952|PMID:34773379|PMID:35535697|PMID:8621584 12405432 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10612827|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10814726|PMID:10908904|PMID:10939567|PMID:11102526|PMID:11102973|PMID:11138304|PMID:11180602|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12196663|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16386954|PMID:16407522|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17599607|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19318026|PMID:19328042|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19875404|PMID:19882644|PMID:19933576|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21980471|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25946677|PMID:25948554|PMID:25987458|PMID:25988045|PMID:26084686|PMID:26332594|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26602028|PMID:26670336|PMID:26899768|PMID:27000522|PMID:27153395|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27723096|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29497013|PMID:29693488|PMID:29791652|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31264968|PMID:31303467 12405432 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:31383942|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31857427|PMID:31977013|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32746448|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33673806|PMID:34213952|PMID:34773379|PMID:35535697|PMID:8621584 12405432 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12196663|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21465660|PMID:21479595|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:2280636|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970 12405432 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33673806|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 12405432 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 12405432 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670 12405432 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670 12405432 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12467734|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453 12405432 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 12405432 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12467734|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323 12405432 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 12405432 LMNA lamin A/C gene DOID:12930 dilated cardiomyopathy severity ISO RGD:732790 D RGD:9068941 20200609 RGD DNA:missense mutations, deletion:cds:multiple (human) PMID:12628721|REF_RGD_ID:1580515 12405432 LMNA lamin A/C gene DOID:1389 polyneuropathy ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyneuropathy 12405432 LMNA lamin A/C gene DOID:1540 parathyroid carcinoma ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12405432 LMNA lamin A/C gene DOID:224 transient cerebral ischemia ISO RGD:620456 D RGD:9068941 20200609 RGD PMID:17683050|REF_RGD_ID:2293745 12405432 LMNA lamin A/C gene DOID:2349 arteriosclerosis ISO RGD:620456 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:16620292|REF_RGD_ID:2302364 12405432 LMNA lamin A/C gene DOID:2843 long QT syndrome ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10580070|PMID:11102973|PMID:25741868|PMID:28492532|PMID:28686329|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 12405432 LMNA lamin A/C gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532|PMID:28663758|PMID:31383942 12405432 LMNA lamin A/C gene DOID:3910 lung adenocarcinoma ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 12405432 LMNA lamin A/C gene DOID:3911 progeria ISO RGD:732790 D RGD:7240710 20180130 OMIM 12405432 LMNA lamin A/C gene DOID:3911 progeria ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, atypical | ClinVar Annotator: match by term: Hutchinson-Gilford syndrome PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:11901143|PMID:12057196|PMID:12075506|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12629077|PMID:12647844|PMID:12669268|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15060110|PMID:15121795|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15793835|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16364671|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16965317|PMID:17274801|PMID:17347251|PMID:17377071|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:1849984|PMID:18549403|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20580717|PMID:20625965|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21173262|PMID:21251803|PMID:21479595|PMID:21520333|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22065502|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22419169|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22893709|PMID:22918509|PMID:23141186|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23659872|PMID:23666920|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24305605|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24639906|PMID:24642510|PMID:24687084|PMID:24721642|PMID:24768879|PMID:24846508|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25326635|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25649378|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25982065|PMID:26027246|PMID:26084686|PMID:26165385|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27199538|PMID:27332903|PMID:27334370|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:27920058|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878338|PMID:28878402|PMID:29040816|PMID:29149195|PMID:29237675 12405432 LMNA lamin A/C gene DOID:3911 progeria ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, atypical | ClinVar Annotator: match by term: Hutchinson-Gilford syndrome PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31498906|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32297714|PMID:32376792|PMID:32666643|PMID:32727917|PMID:32818388|PMID:32880476|PMID:32943904|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35449878|PMID:9500556|PMID:9536098 12405432 LMNA lamin A/C gene DOID:440 neuromuscular disease ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neuromuscular disease | ClinVar Annotator: match by term: Neuromuscular disorder PMID:15678000|PMID:16199547|PMID:17377071|PMID:18585512|PMID:18926329|PMID:19446900|PMID:24033266|PMID:24503780|PMID:24915601|PMID:25741868|PMID:27506821|PMID:28492532|PMID:28679633|PMID:28798025|PMID:28912206|PMID:29693488|PMID:31447099|PMID:31476771 12405432 LMNA lamin A/C gene DOID:5688 Werner syndrome ISO RGD:732790 D RGD:9068941 20200609 RGD atypical;DNA:missense mutations:cds:p.A57P, p.R133L, p.L140R (human) PMID:12927431|REF_RGD_ID:12791031 12405432 LMNA lamin A/C gene DOID:574 peripheral nervous system disease ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:19589617|PMID:22918509|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26332594|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29791652|PMID:31857427 12405432 LMNA lamin A/C gene DOID:5812 MHC class II deficiency ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12405432 LMNA lamin A/C gene DOID:630 genetic disease ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10587585|PMID:10655060|PMID:10739751|PMID:10908904|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:12524233|PMID:12669268|PMID:12920062|PMID:14510863|PMID:14749366|PMID:15060110|PMID:15531479|PMID:16181372|PMID:16218190|PMID:16459536|PMID:17524034|PMID:18396274|PMID:19169477|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19418082|PMID:19574635|PMID:19622949|PMID:19859838|PMID:20130076|PMID:20625965|PMID:20848652|PMID:21479595|PMID:21945321|PMID:21989830|PMID:22276265|PMID:22700598|PMID:23427149|PMID:23783098|PMID:23846499|PMID:24002959|PMID:24033266|PMID:24108105|PMID:24375749|PMID:24503780|PMID:25524705|PMID:25741868|PMID:25885670|PMID:26027246|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27504462|PMID:27532257|PMID:27841971|PMID:28492532|PMID:28641778|PMID:28751304|PMID:29438482|PMID:32012908|PMID:9500556 12405432 LMNA lamin A/C gene DOID:6713 cerebrovascular disease ISO RGD:732790 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:cds:1908C>T (human) PMID:16117820|REF_RGD_ID:2306095 12405432 LMNA lamin A/C gene DOID:811 lipodystrophy ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lipodystrophy PMID:12920062|PMID:15060110|PMID:19095983|PMID:19169477|PMID:19589617|PMID:22700598|PMID:22918509|PMID:23183350|PMID:23666920|PMID:24033266|PMID:25327215|PMID:25741868|PMID:26332594|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29047356|PMID:29791652|PMID:30123186|PMID:30696354|PMID:31857427|PMID:32548202|PMID:32954377 12405432 LMNA lamin A/C gene DOID:8472 localized scleroderma ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15726408 12405432 LMNA lamin A/C gene DOID:870 neuropathy ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal recessive axonal hereditary motor and sensory neuropathy | ClinVar Annotator: match by term: Peripheral neuropathy PMID:11799477|PMID:12467734|PMID:14607793|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17711925|PMID:17760566|PMID:18549403|PMID:19589617|PMID:22331516|PMID:22918509|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29791652|PMID:30340945|PMID:30420677|PMID:31857427|PMID:34862408|PMID:35449878 12405432 LMNA lamin A/C gene DOID:9000064 Cardiac Arrhythmias ISO RGD:732791 D RGD:9068941 20200609 RGD PMID:18182166|REF_RGD_ID:2306092 12405432 LMNA lamin A/C gene DOID:9000067 Congenital Foot Deformities ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15996213 12405432 LMNA lamin A/C gene DOID:9000488 Progeria Syndrome, Childhood-Onset ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, childhood-onset PMID:11015599|PMID:11503164|PMID:11792811|PMID:12629077|PMID:12927431|PMID:14615128|PMID:16174718|PMID:26724531|PMID:28492532|PMID:31293201 12405432 LMNA lamin A/C gene DOID:9000652 Cardiac Conduction Disease with or without Dilated Cardiomyopathy ISO RGD:732790 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:10580070|REF_RGD_ID:11066902 12405432 LMNA lamin A/C gene DOID:9000655 Hereditary Motor Neuropathy with Myopathic Features ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neuromyopathy PMID:17377071|PMID:24033266|PMID:24503780|PMID:24915601|PMID:25741868|PMID:27506821|PMID:28492532|PMID:28679633|PMID:28798025|PMID:28912206|PMID:29693488|PMID:31447099|PMID:31476771 12405432 LMNA lamin A/C gene DOID:9000808 Hypercholesterolemia ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypercholesterolaemia PMID:19589617|PMID:22918509|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26332594|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29791652|PMID:31857427 12405432 LMNA lamin A/C gene DOID:9001502 Congenital Microtia ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Microtia PMID:19589617|PMID:22918509|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26332594|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29791652|PMID:31857427 12405432 LMNA lamin A/C gene DOID:9001751 Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: IRAN, TYPE A PMID:15919811|PMID:16478798|PMID:20848652|PMID:23785128|PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 12405432 LMNA lamin A/C gene DOID:9002165 Diabetic Nephropathies ISO RGD:732790 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:cds:1908C>T (human) PMID:16117820|REF_RGD_ID:2306095 12405432 LMNA lamin A/C gene DOID:9003163 Heart Block ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15996213 12405432 LMNA lamin A/C gene DOID:9003205 Heart-Hand Syndrome, Slovenian Type ISO RGD:732790 D RGD:7240710 20180130 OMIM 12405432 LMNA lamin A/C gene DOID:9003205 Heart-Hand Syndrome, Slovenian Type ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Heart-hand syndrome, Slovenian type PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11792809|PMID:11897440|PMID:12524233|PMID:12647844|PMID:12669268|PMID:12920062|PMID:12927424|PMID:14510863|PMID:14659775|PMID:14749366|PMID:15060110|PMID:15298354|PMID:15531479|PMID:15770669|PMID:15996213|PMID:16181372|PMID:16364671|PMID:16415042|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:17524034|PMID:17711925|PMID:17893350|PMID:17987279|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18551513|PMID:18585512|PMID:18611980|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19574635|PMID:19622949|PMID:19638735|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20848652|PMID:21479595|PMID:21520333|PMID:21831885|PMID:21840938|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25025039|PMID:2526018|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26662654|PMID:26724531|PMID:26733286|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27884249|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31977013|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34768595|PMID:9500556 12405432 LMNA lamin A/C gene DOID:9003846 Sinoatrial Block ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15996213 12405432 LMNA lamin A/C gene DOID:9004416 Paroxysmal Ventricular Fibrillation ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation PMID:23703017|PMID:25256213|PMID:25481314|PMID:28492532 12405432 LMNA lamin A/C gene DOID:9004795 Congenital Hand Deformities ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15996213 12405432 LMNA lamin A/C gene DOID:9005141 Ventricular Tachycardia ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15996213 12405432 LMNA lamin A/C gene DOID:9006138 Laminopathies ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laminopathies | ClinVar Annotator: match by term: Laminopathy PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11136544|PMID:11503164|PMID:11792809|PMID:12032588|PMID:12524233|PMID:12647844|PMID:12927424|PMID:14684700|PMID:16181372|PMID:16364671|PMID:16415042|PMID:17893350|PMID:18551513|PMID:18564364|PMID:18728124|PMID:19011997|PMID:19201734|PMID:19418082|PMID:19859838|PMID:2007407|PMID:20130076|PMID:20625965|PMID:20848652|PMID:20886652|PMID:21632249|PMID:22224630|PMID:22266370|PMID:22464770|PMID:22700598|PMID:23183350|PMID:23313286|PMID:23427149|PMID:23853504|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24656463|PMID:24806962|PMID:24846508|PMID:25637381|PMID:25741868|PMID:26098624|PMID:26662654|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27723096|PMID:27884249|PMID:28492532|PMID:28641778|PMID:28679633|PMID:28878402|PMID:29149195|PMID:29237675|PMID:29893365|PMID:29943882|PMID:30007954|PMID:30165862|PMID:30287275|PMID:30528549|PMID:30847666|PMID:30871747|PMID:31194872|PMID:31303467|PMID:31447099|PMID:31829210|PMID:31836692|PMID:32041611|PMID:32155092|PMID:33673806 12405432 LMNA lamin A/C gene DOID:9006646 Metabolic Syndrome ISO RGD:732790 D RGD:9068941 20200609 RGD DNA:SNP: :c.138747C>T (human) PMID:15205219|REF_RGD_ID:2306121 12405432 LMNA lamin A/C gene DOID:9007661 Dwarfism ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:19589617|PMID:22918509|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26332594|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29791652|PMID:31857427 12405432 LMNA lamin A/C gene DOID:9007692 Insulin Resistance ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Insulin-resistance syndrome type A PMID:15919811|PMID:16478798|PMID:20848652|PMID:23785128|PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 12405432 LMNA lamin A/C gene DOID:9007820 Sudden Death ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:10814726|PMID:12628721|PMID:12673789|PMID:12920062|PMID:15053843|PMID:16386954|PMID:17136397|PMID:17377071|PMID:18035086|PMID:18414213|PMID:18564364|PMID:18646565|PMID:19524666|PMID:21632249|PMID:21840938|PMID:23142632|PMID:23183350|PMID:24503780|PMID:24990833|PMID:25741868|PMID:26443318|PMID:27220833|PMID:28492532|PMID:29693488|PMID:29895224|PMID:30055862|PMID:8619549|PMID:9106535 12405432 LMNA lamin A/C gene DOID:9007925 Sudden Cardiac Death ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Family history of sudden cardiac death PMID:17711925|PMID:25741868|PMID:28492532 12405432 LMNA lamin A/C gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15726408 12405432 LMNA lamin A/C gene DOID:9008856 HIV-Associated Lipodystrophy Syndrome ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18230615 12405432 LMNA lamin A/C gene DOID:9164 achalasia ISO RGD:732791 D RGD:9068941 20220825 MouseDO OMIM:200400 12405432 LMNA lamin A/C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12405432 LMNA lamin A/C gene DOID:9351 diabetes mellitus ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11792809|PMID:12057196|PMID:12524233|PMID:12647844|PMID:12927424|PMID:15060110|PMID:15219508|PMID:15770669|PMID:16181372|PMID:16364671|PMID:16415042|PMID:16585054|PMID:17893350|PMID:18035086|PMID:18478590|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19418082|PMID:19589617|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20074070|PMID:20130076|PMID:20497714|PMID:20625965|PMID:20848652|PMID:21535365|PMID:21831885|PMID:21980471|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22355414|PMID:22526018|PMID:22570643|PMID:2270059|PMID:22700598|PMID:23313286|PMID:23349452|PMID:23427149|PMID:23853504|PMID:23861362|PMID:24033266|PMID:24080738|PMID:24375749|PMID:24503780|PMID:24623722|PMID:25025039|PMID:25163546|PMID:2526018|PMID:25448463|PMID:25637381|PMID:25741868|PMID:25873806|PMID:26467025|PMID:26498160|PMID:26662654|PMID:27000522|PMID:27153395|PMID:27447704|PMID:27532257|PMID:27896284|PMID:28087566|PMID:28492532|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28701371|PMID:28807990|PMID:29237675|PMID:29952368|PMID:30287275|PMID:30420677|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31383942|PMID:31447099|PMID:31744510|PMID:31836692|PMID:32041611|PMID:32818388|PMID:33407844 12405432 LMNA lamin A/C gene DOID:9352 type 2 diabetes mellitus ISO RGD:732790 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17327437|REF_RGD_ID:1624985 12405432 LMNA lamin A/C gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:732790 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17327461|REF_RGD_ID:1624984 12405432 LMNA lamin A/C gene DOID:9884 muscular dystrophy ISO RGD:732790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:10080180|PMID:10739764|PMID:10814726|PMID:10939567|PMID:11503164|PMID:11731280|PMID:11792809|PMID:11792810|PMID:12032588|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12920062|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15148145|PMID:15372542|PMID:15744034|PMID:16218190|PMID:16386954|PMID:17136397|PMID:17377071|PMID:17967828|PMID:18035086|PMID:18035816|PMID:18396274|PMID:18414213|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18646565|PMID:19070492|PMID:19524666|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21179469|PMID:21520333|PMID:21632249|PMID:21818408|PMID:21840938|PMID:21970986|PMID:22326558|PMID:22883396|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23427149|PMID:23990565|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24990833|PMID:25210889|PMID:25343322|PMID:25741868|PMID:25948554|PMID:25987458|PMID:26098624|PMID:26443318|PMID:26467025|PMID:26575312|PMID:27034135|PMID:27220833|PMID:27461183|PMID:27673727|PMID:27708273|PMID:27854218|PMID:28492532|PMID:29057633|PMID:29693488|PMID:29895224|PMID:29907918|PMID:30055862|PMID:32571898|PMID:34008892|PMID:8619549|PMID:9106535 12405448 BECN1 beclin 1 gene DOID:0080322 polycystic kidney disease ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:renal cortex PMID:21270095|REF_RGD_ID:6483074 12405448 BECN1 beclin 1 gene DOID:0080322 polycystic kidney disease ISO RGD:736173 D RGD:9068941 20200609 RGD protein:increased expression:renal cortex PMID:21270095|REF_RGD_ID:6483074 12405448 BECN1 beclin 1 gene DOID:0080855 Parkinsonism ISO RGD:736173 D RGD:9068941 20200609 RGD PMID:19864570|REF_RGD_ID:6483312 12405448 BECN1 beclin 1 gene DOID:0080855 Parkinsonism treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:25424835|REF_RGD_ID:11558014 12405448 BECN1 beclin 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:21926933|REF_RGD_ID:6483068 12405448 BECN1 beclin 1 gene DOID:10652 Alzheimer's disease ISO RGD:733440 D RGD:9068941 20200609 RGD protein:decreased expression:gray matter PMID:18497889|REF_RGD_ID:6483101 12405448 BECN1 beclin 1 gene DOID:10652 Alzheimer's disease ISO RGD:736173 D RGD:9068941 20200609 RGD PMID:20863706|REF_RGD_ID:6483102 12405448 BECN1 beclin 1 gene DOID:10763 hypertension ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:23499735|REF_RGD_ID:11561939 12405448 BECN1 beclin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733440 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:25209900|REF_RGD_ID:11558015 12405448 BECN1 beclin 1 gene DOID:12010 anterior ischemic optic neuropathy ISO RGD:620190 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:21490676|REF_RGD_ID:6483070 12405448 BECN1 beclin 1 gene DOID:12217 Lewy body dementia ISO RGD:733440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19628769 12405448 BECN1 beclin 1 gene DOID:1440 Machado-Joseph disease ISO RGD:733440 D RGD:9068941 20200609 RGD PMID:21478185|REF_RGD_ID:6483072 12405448 BECN1 beclin 1 gene DOID:1440 Machado-Joseph disease ISO RGD:736173 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:21478185|REF_RGD_ID:6483072 12405448 BECN1 beclin 1 gene DOID:1596 depressive disorder disease_progression ISO RGD:733440 D RGD:9068941 20200609 RGD PMID:25386878|REF_RGD_ID:11561930 12405448 BECN1 beclin 1 gene DOID:1596 depressive disorder treatment ISO RGD:736173 D RGD:9068941 20200609 RGD PMID:25386878|REF_RGD_ID:11561930 12405448 BECN1 beclin 1 gene DOID:1612 breast cancer disease_progression ISO RGD:733440 D RGD:9068941 20221103 RGD PMID:33292020|REF_RGD_ID:155641236 12405448 BECN1 beclin 1 gene DOID:1686 glaucoma ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:eye PMID:22476098|REF_RGD_ID:6483048 12405448 BECN1 beclin 1 gene DOID:1824 status epilepticus ISO RGD:620190 D RGD:9068941 20200609 RGD mRNA:protein:increased expression PMID:19138675|REF_RGD_ID:6483096 12405448 BECN1 beclin 1 gene DOID:1824 status epilepticus ISO RGD:733440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138675 12405448 BECN1 beclin 1 gene DOID:1826 epilepsy ISO RGD:620190 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:hippocampus PMID:20838925|REF_RGD_ID:6483076 12405448 BECN1 beclin 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:22509406|REF_RGD_ID:11561910 12405448 BECN1 beclin 1 gene DOID:2316 brain ischemia ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:19574998|REF_RGD_ID:6483094 12405448 BECN1 beclin 1 gene DOID:2316 brain ischemia ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, frontal cortex PMID:17936001|REF_RGD_ID:6483313 12405448 BECN1 beclin 1 gene DOID:3068 glioblastoma disease_progression ISO RGD:733440 D RGD:9068941 20200609 RGD PMID:20863706|REF_RGD_ID:6483102 12405448 BECN1 beclin 1 gene DOID:326 ischemia ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:25435100|REF_RGD_ID:11561945 12405448 BECN1 beclin 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736173 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:23851366|REF_RGD_ID:11561951 12405448 BECN1 beclin 1 gene DOID:3454 brain infarction ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:22227058|REF_RGD_ID:6483057 12405448 BECN1 beclin 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:22108007|REF_RGD_ID:11561900 12405448 BECN1 beclin 1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:22301112|REF_RGD_ID:11561943 12405448 BECN1 beclin 1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:733440 D RGD:9068941 20200609 RGD PMID:22301112|REF_RGD_ID:11561943 12405448 BECN1 beclin 1 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:733440 D RGD:9068941 20200609 RGD PMID:30849962|REF_RGD_ID:14974231 12405448 BECN1 beclin 1 gene DOID:5082 liver cirrhosis ISO RGD:733440 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:22895779|REF_RGD_ID:11561934 12405448 BECN1 beclin 1 gene DOID:5199 ureteral obstruction ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:cortex of kidney PMID:23314838|REF_RGD_ID:11561927 12405448 BECN1 beclin 1 gene DOID:5419 schizophrenia ISO RGD:620190 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:24365867|REF_RGD_ID:11561929 12405448 BECN1 beclin 1 gene DOID:5844 myocardial infarction ISO RGD:733440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20079142 12405448 BECN1 beclin 1 gene DOID:5844 myocardial infarction treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:20079142|REF_RGD_ID:11561913 12405448 BECN1 beclin 1 gene DOID:6000 congestive heart failure treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:18619688|REF_RGD_ID:11560532 12405448 BECN1 beclin 1 gene DOID:607 paraplegia ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:soleus muscle PMID:23055316|REF_RGD_ID:11557990 12405448 BECN1 beclin 1 gene DOID:630 genetic disease ISO RGD:733440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12405448 BECN1 beclin 1 gene DOID:646 viral encephalitis ISO RGD:733440 D RGD:9068941 20200609 RGD associated with HIV infections;protein:increased expression:brain PMID:21592995|REF_RGD_ID:6483316 12405448 BECN1 beclin 1 gene DOID:783 end stage renal disease ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:24090408|REF_RGD_ID:11561926 12405448 BECN1 beclin 1 gene DOID:8283 peritonitis ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression: PMID:22001349|REF_RGD_ID:6483066 12405448 BECN1 beclin 1 gene DOID:8398 osteoarthritis ISO RGD:733440 D RGD:9068941 20200609 RGD protein:decreased expression:cartilage PMID:20187128|REF_RGD_ID:6483317 12405448 BECN1 beclin 1 gene DOID:8398 osteoarthritis ISO RGD:736173 D RGD:9068941 20200609 RGD protein:decreased expression:cartilage PMID:20187128|REF_RGD_ID:6483317 12405448 BECN1 beclin 1 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:733440 D RGD:9068941 20200609 RGD protein:increased expression:intestine PMID:20539009|REF_RGD_ID:6483081 12405448 BECN1 beclin 1 gene DOID:90 degenerative disc disease ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:intervertebral disc PMID:22835012|REF_RGD_ID:11561942 12405448 BECN1 beclin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:24559459|REF_RGD_ID:11561918 12405448 BECN1 beclin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:733440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 12405448 BECN1 beclin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:736173 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:21806471|REF_RGD_ID:6483100 12405448 BECN1 beclin 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:23852559|REF_RGD_ID:11561922 12405448 BECN1 beclin 1 gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:24990154|REF_RGD_ID:11561988 12405448 BECN1 beclin 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:22521819|REF_RGD_ID:6483046 12405448 BECN1 beclin 1 gene DOID:9000998 Brain Injuries ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:24221859|REF_RGD_ID:11558018 12405448 BECN1 beclin 1 gene DOID:9000998 Brain Injuries ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:neuron, astrocyte PMID:18500386|REF_RGD_ID:6483098 12405448 BECN1 beclin 1 gene DOID:9000998 Brain Injuries ISO RGD:733440 D RGD:9068941 20220407 CTD CTD Direct Evidence: therapeutic PMID:34929507 12405448 BECN1 beclin 1 gene DOID:9000998 Brain Injuries ISO RGD:736173 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:16874043|REF_RGD_ID:6483314 12405448 BECN1 beclin 1 gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:25374587|REF_RGD_ID:11561952 12405448 BECN1 beclin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:21866636|REF_RGD_ID:6483069 12405448 BECN1 beclin 1 gene DOID:9002211 Hyperalgesia ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:23665054|REF_RGD_ID:11560531 12405448 BECN1 beclin 1 gene DOID:9002514 Neointima ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:25238224|REF_RGD_ID:11558011 12405448 BECN1 beclin 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:basal ganglion PMID:23884876|REF_RGD_ID:11561935 12405448 BECN1 beclin 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:733440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20876807 12405448 BECN1 beclin 1 gene DOID:9002955 Nerve Degeneration ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:lumbar spinal cord ventral horn PMID:21436843|REF_RGD_ID:5685686 12405448 BECN1 beclin 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:25919564|REF_RGD_ID:11558017 12405448 BECN1 beclin 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:22449108|REF_RGD_ID:6483050 12405448 BECN1 beclin 1 gene DOID:9003936 Cardiomegaly ISO RGD:620190 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart left ventricle PMID:23326547|REF_RGD_ID:11561904 12405448 BECN1 beclin 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:24998254|REF_RGD_ID:11561938 12405448 BECN1 beclin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:22306244|REF_RGD_ID:6483054 12405448 BECN1 beclin 1 gene DOID:9004332 Osteoarthritis, Experimental treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:23589102|REF_RGD_ID:11561955 12405448 BECN1 beclin 1 gene DOID:9004649 Heat Stroke ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:20823696|REF_RGD_ID:6483077 12405448 BECN1 beclin 1 gene DOID:9005172 Lung Neoplasms ISO RGD:733440 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22481206|PMID:23790316 12405448 BECN1 beclin 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:24993523|REF_RGD_ID:11557996 12405448 BECN1 beclin 1 gene DOID:9006008 Closed Head Injuries ISO RGD:736173 D RGD:9068941 20200609 RGD protein:increased expression:neuron PMID:16004578|REF_RGD_ID:6483315 12405448 BECN1 beclin 1 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:26412257|REF_RGD_ID:11561958 12405448 BECN1 beclin 1 gene DOID:9006281 Temporomandibular Joint Disorders ISO RGD:620190 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cartilage tissue PMID:23386193|REF_RGD_ID:10041017 12405448 BECN1 beclin 1 gene DOID:9007090 Experimental Seizures treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:23994218|REF_RGD_ID:11561923 12405448 BECN1 beclin 1 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:736173 D RGD:9068941 20200609 RGD PMID:22850625|REF_RGD_ID:11560530 12405448 BECN1 beclin 1 gene DOID:9007730 Burns ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:24730400|REF_RGD_ID:11561936 12405448 BECN1 beclin 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:736173 D RGD:9068941 20200609 RGD PMID:20812860|REF_RGD_ID:11561944 12405448 BECN1 beclin 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:20821058|REF_RGD_ID:11561911 12405448 BECN1 beclin 1 gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:620190 D RGD:9068941 20200709 RGD PMID:31007149|REF_RGD_ID:34888237 12405448 BECN1 beclin 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:736173 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12405448 BECN1 beclin 1 gene DOID:9206 Barrett's esophagus ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:22301112|REF_RGD_ID:11561943 12405448 BECN1 beclin 1 gene DOID:9206 Barrett's esophagus disease_progression ISO RGD:733440 D RGD:9068941 20200609 RGD PMID:22301112|REF_RGD_ID:11561943 12405448 BECN1 beclin 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:21820301|REF_RGD_ID:11561956 12405448 BECN1 beclin 1 gene DOID:9743 diabetic neuropathy treatment ISO RGD:620190 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:25824552|REF_RGD_ID:11561957 12405468 MAFF MAF bZIP transcription factor F gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1319919 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12405468 MAFF MAF bZIP transcription factor F gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1319919 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12405468 MAFF MAF bZIP transcription factor F gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1319919 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12405468 MAFF MAF bZIP transcription factor F gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1319919 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12405468 MAFF MAF bZIP transcription factor F gene DOID:630 genetic disease ISO RGD:1319919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12405468 MAFF MAF bZIP transcription factor F gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1319919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12405475 KANSL3 KAT8 regulatory NSL complex subunit 3 gene DOID:1059 intellectual disability ISO RGD:1604339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12405475 KANSL3 KAT8 regulatory NSL complex subunit 3 gene DOID:5419 schizophrenia ISO RGD:1604339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12405475 KANSL3 KAT8 regulatory NSL complex subunit 3 gene DOID:630 genetic disease ISO RGD:1604339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12405511 ORC6 origin recognition complex subunit 6 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1322900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:25741868 12405511 ORC6 origin recognition complex subunit 6 gene DOID:0060897 Parkinson's disease 17 ISO RGD:1322900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease 17 PMID:28492532 12405511 ORC6 origin recognition complex subunit 6 gene DOID:0080514 Meier-Gorlin syndrome 3 ISO RGD:1322900 D RGD:7240710 20190424 OMIM 12405511 ORC6 origin recognition complex subunit 6 gene DOID:0080514 Meier-Gorlin syndrome 3 ISO RGD:1322900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 PMID:17576681|PMID:18414213|PMID:21358632|PMID:22333897|PMID:25741868|PMID:28492532|PMID:7710253|PMID:9536098 12405511 ORC6 origin recognition complex subunit 6 gene DOID:0111041 glycogen storage disease IXb ISO RGD:1322900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 12405511 ORC6 origin recognition complex subunit 6 gene DOID:14330 Parkinson's disease ISO RGD:1322900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant PMID:25741868 12405511 ORC6 origin recognition complex subunit 6 gene DOID:630 genetic disease ISO RGD:1322900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12405529 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:0050902 medulloblastoma ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26619011 12405529 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:0060464 Feingold syndrome ISO RGD:1344499 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum | ClinVar Annotator: match by term: MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE | ClinVar Annotator: match by term: MMT syndrome PMID:15821734|PMID:16906565|PMID:18470948|PMID:18671284|PMID:20301770|PMID:21224895|PMID:25741868|PMID:28492532|PMID:30573562|PMID:30655312 12405529 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1344499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12405529 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:1059 intellectual disability ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12405529 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:13938 amenorrhea ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12405529 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:1657 ventricular septal defect ISO RGD:1344499 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:25741868 12405529 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:2154 nephroblastoma ISO RGD:1344499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 12405529 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:2513 basal cell carcinoma ISO RGD:1344499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 12405529 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:3068 glioblastoma ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:26619011 12405529 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:363 uterine cancer ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26619011 12405529 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:26619011 12405529 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:5419 schizophrenia ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12405529 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1344499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28671688 12405529 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:5723 optic atrophy ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:32581362 12405529 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:630 genetic disease ISO RGD:1344499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15821734|PMID:16906565|PMID:18470948|PMID:18671284|PMID:21224895|PMID:28492532 12405529 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:6406 double outlet right ventricle ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Double outlet right ventricle PMID:25741868 12405529 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:769 neuroblastoma ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26619011 12405529 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:9000674 Agenesis of Gallbladder ISO RGD:1344499 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gallbladder, agenesis of PMID:25741868 12405529 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:9002221 Hyperplasia ISO RGD:1344499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25174395 12405529 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:9004814 Chromosome Aberrations ISO RGD:1344499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25174395 12405529 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:9004844 Feingold Syndrome 1 ISO RGD:1344499 D RGD:7240710 20180704 OMIM 12405529 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:9005749 Necrosis ISO RGD:1344499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21214410 12405529 MYCN MYCN proto-oncogene, bHLH transcription factor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1344499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22286764 12405534 SLC26A4 solute carrier family 26 member 4 gene DOID:0050328 congenital hypothyroidism ISO RGD:736428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism 12405534 SLC26A4 solute carrier family 26 member 4 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:736428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:10700480|PMID:10874637|PMID:10902795|PMID:11317356|PMID:11502831|PMID:11748854|PMID:11919333|PMID:11932316|PMID:12112665|PMID:12676893|PMID:12974744|PMID:14508505|PMID:14679580|PMID:15355436|PMID:15574297|PMID:15679828|PMID:15747138|PMID:15811013|PMID:15933521|PMID:16053392|PMID:16283880|PMID:16460646|PMID:16570074|PMID:16711435|PMID:16924389|PMID:16950989|PMID:17309986|PMID:17443271|PMID:17576681|PMID:17718863|PMID:17766716|PMID:18167283|PMID:18285825|PMID:18641518|PMID:18813951|PMID:19017801|PMID:19040761|PMID:19169484|PMID:19287372|PMID:19426954|PMID:19509082|PMID:19608655|PMID:19786220|PMID:20137612|PMID:20597900|PMID:20668687|PMID:20842945|PMID:21154317|PMID:21366435|PMID:21704276|PMID:21961810|PMID:22116358|PMID:22116360|PMID:22903915|PMID:23151025|PMID:23185506|PMID:23273637|PMID:23296490|PMID:23336812|PMID:23504402|PMID:23638949|PMID:23718755|PMID:23770805|PMID:23918157|PMID:23958391|PMID:23965030|PMID:24007330|PMID:24033266|PMID:24105851|PMID:24224479|PMID:24248179|PMID:24338212|PMID:24949729|PMID:25015771|PMID:25266519|PMID:25290043|PMID:25317404|PMID:25372295|PMID:25394566|PMID:25468468|PMID:25491636|PMID:25525159|PMID:25741868|PMID:26100058|PMID:26226137|PMID:26252218|PMID:26445815|PMID:26683941|PMID:26752218|PMID:26763877|PMID:27541434|PMID:27573290|PMID:27771369|PMID:28444304|PMID:28492532|PMID:28604962|PMID:28941661|PMID:28964290|PMID:29372807|PMID:30077349|PMID:30303587|PMID:30311386|PMID:30622556|PMID:30693673|PMID:30760291|PMID:31581539|PMID:31599023|PMID:31700827|PMID:31971949|PMID:32417962|PMID:32447495|PMID:32747562|PMID:34170635|PMID:34599368|PMID:9398842|PMID:9536098|PMID:9618166|PMID:9618167 12405534 SLC26A4 solute carrier family 26 member 4 gene DOID:0060744 Pendred syndrome ISO RGD:736428 D RGD:7240710 20180130 OMIM 12405534 SLC26A4 solute carrier family 26 member 4 gene DOID:0060744 Pendred syndrome ISO RGD:736428 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B | ClinVar Annotator: match by term: Pendred syndrome PMID:10190331|PMID:10571950|PMID:10602116|PMID:10700480|PMID:10718825|PMID:10861298|PMID:10874637|PMID:10878664|PMID:10902795|PMID:11317356|PMID:11375792|PMID:11405873|PMID:11502831|PMID:11700190|PMID:11716048|PMID:11748854|PMID:11919333|PMID:11932316|PMID:12112665|PMID:12354788|PMID:12642503|PMID:12676893|PMID:12788906|PMID:12920581|PMID:12974744|PMID:14508505|PMID:14679580|PMID:14715652|PMID:15099345|PMID:15279074|PMID:15355436|PMID:15531480|PMID:15574297|PMID:15611902|PMID:15679828|PMID:15689455|PMID:15720248|PMID:15747138|PMID:15811013|PMID:15933521|PMID:16053392|PMID:16199547|PMID:16275403|PMID:16283880|PMID:16460646|PMID:16482981|PMID:16570074|PMID:16684826|PMID:16711435|PMID:16773579|PMID:16791000|PMID:16914891|PMID:16924389|PMID:16950989|PMID:16952406|PMID:17125574|PMID:17146393|PMID:17309986|PMID:17322586|PMID:17357124|PMID:17443271|PMID:17503324|PMID:17576681|PMID:17697873|PMID:17718863|PMID:17766716|PMID:17851929|PMID:17876604|PMID:17940114|PMID:18075246|PMID:18167283|PMID:18250610|PMID:18274916|PMID:18283249|PMID:18285825|PMID:18310264|PMID:18322141|PMID:18427006|PMID:18585793|PMID:18641518|PMID:18665027|PMID:18813951|PMID:18988928|PMID:19017801|PMID:19040761|PMID:19169484|PMID:19199245|PMID:19204907|PMID:19287372|PMID:19318451|PMID:19426954|PMID:19429184|PMID:19509082|PMID:19565036|PMID:19578036|PMID:19608655|PMID:19615760|PMID:19620588|PMID:19645628|PMID:19648736|PMID:19718752|PMID:19744334|PMID:19786220|PMID:19787632|PMID:19888295|PMID:20128824|PMID:20137612|PMID:20146813|PMID:20301640|PMID:20483489|PMID:20553101|PMID:20583162|PMID:20597900|PMID:20601923|PMID:20621367|PMID:20668687|PMID:20826203|PMID:20842945|PMID:20981092|PMID:21045265|PMID:21154317|PMID:21366435|PMID:21416585|PMID:21551164|PMID:21557232|PMID:21704276|PMID:21961810|PMID:22116358|PMID:22116359|PMID:22116360|PMID:22285650|PMID:22289209|PMID:22384008|PMID:22389666|PMID:22412181|PMID:22717225|PMID:22796198|PMID:22884721|PMID:22903915|PMID:22975760|PMID:23151025|PMID:23151031|PMID:23185506|PMID:23208854|PMID:23266159|PMID:23273637|PMID:23280318|PMID:23296490|PMID:23336812|PMID:23385134|PMID:23401162|PMID:23504402|PMID:23555729|PMID:23617710|PMID:23638949|PMID:23705809|PMID:23718755|PMID:23770805|PMID:23804846|PMID:23838540|PMID:23918157|PMID:23958391|PMID:23965030|PMID:23967202|PMID:23980138|PMID:24007330|PMID:24033266|PMID:24051746|PMID:24105851|PMID:24156272|PMID:24222258|PMID:2422447|PMID:24224479|PMID:24245694|PMID:24248179|PMID:24338212|PMID:24341454|PMID:24599119|PMID:24612839|PMID:24804242|PMID:24853665|PMID:24860705|PMID:24875928|PMID:24913939|PMID:24949729|PMID:25015771|PMID:25149764|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25290043|PMID:25317404|PMID:25358692|PMID:25372295|PMID:25373420|PMID:25394566|PMID:25468468|PMID:25488846|PMID:25491636|PMID:25525159|PMID:25528277|PMID:25587757|PMID:25724631|PMID:25741868|PMID:25761933|PMID:25788563|PMID:25830873|PMID:25910213|PMID:25991456|PMID:25999548|PMID:26022370|PMID:26035154|PMID:26100058|PMID:26188157|PMID:26226137|PMID:26252218|PMID:26346818|PMID:26397989|PMID:26445815|PMID:26467025|PMID:26485571|PMID:26549381|PMID:26683941|PMID:26744121|PMID:26752218|PMID:26763877|PMID:26764160|PMID:26886089|PMID:26894580|PMID:26900070|PMID:26969326|PMID:27068579|PMID:27090054|PMID:27214836|PMID:27240500|PMID:27247933|PMID:27344577|PMID:27373559|PMID:27466889|PMID:27541434|PMID:27573290|PMID:27610647|PMID:27771369|PMID:27792752|PMID:27861301|PMID:27863619|PMID:27884173|PMID:27997596|PMID:28000701|PMID:28215547|PMID:28273078|PMID:28281779|PMID:28341401|PMID:28389359|PMID:28444304|PMID:28492532|PMID:28576516|PMID:28604962|PMID:28717060|PMID:28786104|PMID:28941661|PMID:28964290|PMID:28984810|PMID:29048421|PMID:29196752|PMID:29293505|PMID:29372807|PMID:29501320|PMID:29546359|PMID:29605365|PMID:29739340|PMID:29907799|PMID:30068397|PMID:30077349|PMID:30086623|PMID:30113565|PMID:30139988|PMID:30154845|PMID:30240412|PMID:30245029|PMID:30268946|PMID:30303587|PMID:30311386|PMID:30484383|PMID:30622556 12405534 SLC26A4 solute carrier family 26 member 4 gene DOID:0060744 Pendred syndrome ISO RGD:736428 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B | ClinVar Annotator: match by term: Pendred syndrome PMID:30693673|PMID:30760291|PMID:30842343|PMID:30896630|PMID:31020658|PMID:31033086|PMID:31035178|PMID:31095577|PMID:31124793|PMID:31387071|PMID:31427586|PMID:31541171|PMID:31581539|PMID:31589614|PMID:31599023|PMID:31633822|PMID:31656273|PMID:31700827|PMID:31971949|PMID:32165640|PMID:32417962|PMID:32447495|PMID:32459320|PMID:32645618|PMID:32658404|PMID:32681043|PMID:32747562|PMID:32770655|PMID:33111345|PMID:33152970|PMID:33199029|PMID:33502066|PMID:33597575|PMID:33614372|PMID:33801843|PMID:34161886|PMID:34170635|PMID:34171171|PMID:34410491|PMID:34545167|PMID:34599368|PMID:34801268|PMID:35802133|PMID:36633841|PMID:8285825|PMID:8541853|PMID:8630498|PMID:9070918|PMID:9398842|PMID:9500541|PMID:9536098|PMID:9604973|PMID:9618166|PMID:9618167|PMID:9920104 12405534 SLC26A4 solute carrier family 26 member 4 gene DOID:0070280 primary autosomal recessive microcephaly 5 ISO RGD:736428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive PMID:12676893|PMID:19287372|PMID:24033266|PMID:25741868|PMID:28492532 12405534 SLC26A4 solute carrier family 26 member 4 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:736428 D RGD:7240710 20180130 OMIM 12405534 SLC26A4 solute carrier family 26 member 4 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:736428 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-Related Disorders | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 PMID:10190331|PMID:10602116|PMID:10700480|PMID:10718825|PMID:10861298|PMID:10874637|PMID:10878664|PMID:10902795|PMID:11317356|PMID:11375792|PMID:11405873|PMID:11502831|PMID:11558900|PMID:11700190|PMID:11748854|PMID:11905055|PMID:11919333|PMID:11932316|PMID:12112665|PMID:12354788|PMID:12642503|PMID:12676893|PMID:12788906|PMID:12974744|PMID:14508505|PMID:14679580|PMID:14715652|PMID:15099345|PMID:15279074|PMID:15355436|PMID:15531480|PMID:15574297|PMID:15679828|PMID:15689455|PMID:15720248|PMID:15747138|PMID:15811013|PMID:15933521|PMID:16053392|PMID:16199547|PMID:16283880|PMID:16460646|PMID:16570074|PMID:16684826|PMID:16711435|PMID:16773579|PMID:16791000|PMID:16914891|PMID:16924389|PMID:16950989|PMID:16952406|PMID:17146393|PMID:17309986|PMID:17322586|PMID:17357124|PMID:17443271|PMID:17503324|PMID:17576681|PMID:17697873|PMID:17718863|PMID:17766716|PMID:17851929|PMID:17876604|PMID:17940114|PMID:18167283|PMID:18274916|PMID:18283249|PMID:18285825|PMID:18310264|PMID:18322141|PMID:18381613|PMID:18427006|PMID:18585793|PMID:18641518|PMID:18813951|PMID:18988928|PMID:19017801|PMID:19040761|PMID:19169484|PMID:19204907|PMID:19287372|PMID:19426954|PMID:19429184|PMID:19509082|PMID:19565036|PMID:19578036|PMID:19608655|PMID:19615760|PMID:19620588|PMID:19645628|PMID:19648736|PMID:19718752|PMID:19744334|PMID:19786220|PMID:19787632|PMID:19888295|PMID:20128824|PMID:20301640|PMID:20553101|PMID:20583162|PMID:20597900|PMID:20601923|PMID:20621367|PMID:20668687|PMID:20826203|PMID:20842945|PMID:20981092|PMID:21045265|PMID:21154317|PMID:21366435|PMID:21416585|PMID:21551164|PMID:21704276|PMID:21961810|PMID:22116358|PMID:22116359|PMID:22116360|PMID:22285650|PMID:22289209|PMID:22384008|PMID:22389666|PMID:22412181|PMID:22717225|PMID:22796198|PMID:22884721|PMID:22903915|PMID:22975760|PMID:23151025|PMID:23151031|PMID:23185506|PMID:23208854|PMID:23266159|PMID:23273637|PMID:23280318|PMID:23296490|PMID:23336812|PMID:23385134|PMID:23401162|PMID:23504402|PMID:23555729|PMID:23638949|PMID:23705809|PMID:23718755|PMID:23770805|PMID:23804846|PMID:23838540|PMID:23918157|PMID:23958391|PMID:23965030|PMID:23967202|PMID:23980138|PMID:24007330|PMID:24033266|PMID:24051746|PMID:24105851|PMID:24156272|PMID:24224479|PMID:24245694|PMID:24248179|PMID:24338212|PMID:24341454|PMID:24599119|PMID:24612839|PMID:24853665|PMID:24860705|PMID:24875928|PMID:24913939|PMID:24949729|PMID:24989646|PMID:25149764|PMID:25262649|PMID:25266519|PMID:25290043|PMID:25317404|PMID:25372295|PMID:25373420|PMID:25394566|PMID:25468468|PMID:25491636|PMID:25525159|PMID:25572613|PMID:25587757|PMID:25741868|PMID:25761933|PMID:25788563|PMID:25830873|PMID:25910213|PMID:25991456|PMID:25999548|PMID:26022370|PMID:26035154|PMID:26100058|PMID:26188157|PMID:26226137|PMID:26252218|PMID:26346818|PMID:26397989|PMID:26445815|PMID:26467025|PMID:26485571|PMID:26549381|PMID:26683941|PMID:26744121|PMID:26752218|PMID:26763877|PMID:26764160|PMID:26886089|PMID:26894580|PMID:26900070|PMID:26969326|PMID:27214836|PMID:27246798|PMID:27344577|PMID:27373559|PMID:27541434|PMID:27573290|PMID:27771369|PMID:27861301|PMID:27884173|PMID:27997596|PMID:28000701|PMID:28273078|PMID:28281779|PMID:28341401|PMID:28444304|PMID:28492532|PMID:28604962|PMID:28717060|PMID:28786104|PMID:28941661|PMID:28964290|PMID:28984810|PMID:29048421|PMID:29196752|PMID:29293505|PMID:29372807|PMID:29546359|PMID:29739340|PMID:29907799|PMID:30068397|PMID:30077349|PMID:30086623|PMID:30139988|PMID:30240412|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30484383|PMID:30622556|PMID:30693673|PMID:30760291|PMID:31020658|PMID:31033086|PMID:31035178|PMID:31095577|PMID:31124793|PMID:31387071|PMID:31427586|PMID:31581539|PMID:31589614|PMID:31599023|PMID:31633822|PMID:31700827|PMID:31971949|PMID:32165640|PMID:32447495|PMID:32645618|PMID:32747562|PMID:33111345|PMID:33152970|PMID:33597575|PMID:33614372|PMID:34171171|PMID:34545167|PMID:34599368|PMID:8285825|PMID:8541853|PMID:8630498|PMID:9070918|PMID:9398842|PMID:9500541|PMID:9536098|PMID:9604973|PMID:9618166|PMID:9618167 12405534 SLC26A4 solute carrier family 26 member 4 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:736428 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder PMID:10190331|PMID:10571950|PMID:10602116|PMID:10700480|PMID:10718825|PMID:10861298|PMID:10874637|PMID:10878664|PMID:10902795|PMID:11317356|PMID:11375792|PMID:11405873|PMID:11502831|PMID:11558900|PMID:11700190|PMID:11748854|PMID:11905055|PMID:11919333|PMID:11932316|PMID:12112665|PMID:12354788|PMID:12642503|PMID:12676893|PMID:12788906|PMID:12974744|PMID:14508505|PMID:14679580|PMID:14715652|PMID:15099345|PMID:15279074|PMID:15355436|PMID:15531480|PMID:15574297|PMID:15679828|PMID:15689455|PMID:15720248|PMID:15747138|PMID:15811013|PMID:15933521|PMID:16053392|PMID:16199547|PMID:16283880|PMID:16460646|PMID:16570074|PMID:16684826|PMID:16711435|PMID:16773579|PMID:16791000|PMID:16914891|PMID:16924389|PMID:16950989|PMID:16952406|PMID:17146393|PMID:17309986|PMID:17322586|PMID:17357124|PMID:17443271|PMID:17503324|PMID:17576681|PMID:17697873|PMID:17718863|PMID:17766716|PMID:17851929|PMID:17876604|PMID:17940114|PMID:18167283|PMID:18250610|PMID:18274916|PMID:18283249|PMID:18285825|PMID:18310264|PMID:18322141|PMID:18427006|PMID:18585793|PMID:18641518|PMID:18665027|PMID:18813951|PMID:18988928|PMID:19017801|PMID:19040761|PMID:19169484|PMID:19204907|PMID:19287372|PMID:19426954|PMID:19429184|PMID:19509082|PMID:19565036|PMID:19578036|PMID:19608655|PMID:19615760|PMID:19620588|PMID:19645628|PMID:19648736|PMID:19718752|PMID:19744334|PMID:19786220|PMID:19787632|PMID:19888295|PMID:20128824|PMID:20301640|PMID:20553101|PMID:20583162|PMID:20597900|PMID:20601923|PMID:20621367|PMID:20668687|PMID:20826203|PMID:20842945|PMID:20981092|PMID:21045265|PMID:21154317|PMID:21366435|PMID:21416585|PMID:21551164|PMID:21557232|PMID:21704276|PMID:21961810|PMID:22116358|PMID:22116359|PMID:22116360|PMID:22285650|PMID:22289209|PMID:22384008|PMID:22389666|PMID:22412181|PMID:22717225|PMID:22796198|PMID:22884721|PMID:22903915|PMID:22975760|PMID:23151025|PMID:23151031|PMID:23185506|PMID:23208854|PMID:23266159|PMID:23273637|PMID:23280318|PMID:23296490|PMID:23336812|PMID:23385134|PMID:23401162|PMID:23504402|PMID:23555729|PMID:23617710|PMID:23638949|PMID:23705809|PMID:23718755|PMID:23755160|PMID:23770805|PMID:23804846|PMID:23838540|PMID:23918157|PMID:23958391|PMID:23965030|PMID:23967202|PMID:23980138|PMID:24007330|PMID:24033266|PMID:24051746|PMID:24105851|PMID:24156272|PMID:24222258|PMID:2422447|PMID:24224479|PMID:24245694|PMID:24248179|PMID:24338212|PMID:24341454|PMID:24599119|PMID:24612839|PMID:24853665|PMID:24860705|PMID:24875928|PMID:24913939|PMID:24949729|PMID:24989646|PMID:25149764|PMID:25262649|PMID:25266519|PMID:25290043|PMID:25317404|PMID:25372295|PMID:25373420|PMID:25394566|PMID:25468468|PMID:25488846|PMID:25491636|PMID:25525159|PMID:25572613|PMID:25587757|PMID:25741868|PMID:25761933|PMID:25788563|PMID:25830873|PMID:25910213|PMID:25991456|PMID:25999548|PMID:26022370|PMID:26035154|PMID:26100058|PMID:26188157|PMID:26226137|PMID:26252218|PMID:26346818|PMID:26397989|PMID:26445815|PMID:26467025|PMID:26485571|PMID:26549381|PMID:26683941|PMID:26744121|PMID:26752218|PMID:26763877|PMID:26764160|PMID:26886089|PMID:26894580|PMID:26900070|PMID:26969326|PMID:27090054|PMID:27214836|PMID:27246798|PMID:27247933|PMID:27344577|PMID:27373559|PMID:27541434|PMID:27573290|PMID:27610647|PMID:27771369|PMID:27792752|PMID:27861301|PMID:27884173|PMID:27997596|PMID:28000701|PMID:28215547|PMID:28273078|PMID:28281779|PMID:28341401|PMID:28389359|PMID:28444304|PMID:28492532|PMID:28576516|PMID:28604962|PMID:28717060|PMID:28786104|PMID:28941661|PMID:28964290|PMID:28984810|PMID:29048421|PMID:29196752|PMID:29293505|PMID:29372807|PMID:29501320|PMID:29546359|PMID:29605365|PMID:29739340|PMID:29907799|PMID:30068397|PMID:30077349|PMID:30086623|PMID:30139988|PMID:30154845|PMID:30240412|PMID:30245029|PMID:30268946|PMID:30303587|PMID:30311386|PMID:30484383|PMID:30622556|PMID:30693673|PMID:30760291|PMID:30842343|PMID:30896630|PMID:31020658|PMID:31033086|PMID:31035178|PMID:31095577|PMID:31124793|PMID:31387071|PMID:31427586|PMID:31581539|PMID:31589614|PMID:31599023|PMID:31633822|PMID:31656273|PMID:31700827 12405534 SLC26A4 solute carrier family 26 member 4 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:736428 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder PMID:31971949|PMID:32165640|PMID:32417962|PMID:32447495|PMID:32459320|PMID:32645618|PMID:32658404|PMID:32681043|PMID:32747562|PMID:33111345|PMID:33152970|PMID:33199029|PMID:33502066|PMID:33597575|PMID:33614372|PMID:33801843|PMID:34161886|PMID:34170635|PMID:34171171|PMID:34410491|PMID:34545167|PMID:34599368|PMID:34801268|PMID:35802133|PMID:36633841|PMID:8285825|PMID:8541853|PMID:8630498|PMID:9070918|PMID:9398842|PMID:9500541|PMID:9536098|PMID:9604973|PMID:9618166|PMID:9618167 12405534 SLC26A4 solute carrier family 26 member 4 gene DOID:10003 sensorineural hearing loss ISO RGD:736428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15279074|PMID:16053392|PMID:17322586 12405534 SLC26A4 solute carrier family 26 member 4 gene DOID:10763 hypertension ISO RGD:736429 D RGD:9068941 20200609 RGD PMID:17120771|REF_RGD_ID:7411553 12405534 SLC26A4 solute carrier family 26 member 4 gene DOID:12176 goiter ISO RGD:736428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15279074|PMID:16053392|PMID:17322586 12405534 SLC26A4 solute carrier family 26 member 4 gene DOID:12176 goiter ISO RGD:736428 D RGD:9068941 20200609 RGD DNA:deletion, missense mutation:cds:c.1341delG, p.H723R (human) PMID:12974744|REF_RGD_ID:1599217 12405534 SLC26A4 solute carrier family 26 member 4 gene DOID:1459 hypothyroidism ISO RGD:736428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:25741868 12405534 SLC26A4 solute carrier family 26 member 4 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:736428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:11317356|PMID:12642503|PMID:14679580|PMID:15099345|PMID:15355436|PMID:16570074|PMID:16950989|PMID:17503324|PMID:18285825|PMID:19017801|PMID:20597900|PMID:22285650|PMID:23336812|PMID:24033266|PMID:24224479|PMID:25372295|PMID:25394566|PMID:25741868|PMID:28492532 12405534 SLC26A4 solute carrier family 26 member 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12405534 SLC26A4 solute carrier family 26 member 4 gene DOID:630 genetic disease ISO RGD:736428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12405534 SLC26A4 solute carrier family 26 member 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12405534 SLC26A4 solute carrier family 26 member 4 gene DOID:9002802 Acidoses ISO RGD:3293 D RGD:9068941 20200609 RGD mRNA:decreased expression:renal cortex (rat) PMID:12388388|REF_RGD_ID:634144 12405534 SLC26A4 solute carrier family 26 member 4 gene DOID:9004538 Hearing Loss ISO RGD:736428 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:10700480|PMID:10861298|PMID:11317356|PMID:11375792|PMID:11932316|PMID:12354788|PMID:12788906|PMID:14679580|PMID:15279074|PMID:15355436|PMID:15679828|PMID:15689455|PMID:16570074|PMID:16950989|PMID:17503324|PMID:18283249|PMID:18285825|PMID:18310264|PMID:18322141|PMID:19017801|PMID:19204907|PMID:19509082|PMID:19787632|PMID:20301640|PMID:20553101|PMID:20597900|PMID:20842945|PMID:21045265|PMID:21551164|PMID:22717225|PMID:23185506|PMID:23208854|PMID:23273637|PMID:23336812|PMID:23401162|PMID:23555729|PMID:23804846|PMID:23918157|PMID:23965030|PMID:24033266|PMID:24156272|PMID:24224479|PMID:25290043|PMID:25372295|PMID:25373420|PMID:25741868|PMID:25788563|PMID:25910213|PMID:25991456|PMID:25999548|PMID:26445815|PMID:26683941|PMID:26752218|PMID:26763877|PMID:26969326|PMID:27771369|PMID:28273078|PMID:28492532|PMID:28964290|PMID:29196752|PMID:29546359|PMID:30068397|PMID:30139988|PMID:30240412|PMID:30245029|PMID:30311386|PMID:31599023|PMID:31633822|PMID:32747562|PMID:33152970|PMID:34599368|PMID:9070918|PMID:9500541|PMID:9618166|PMID:9618167 12405534 SLC26A4 solute carrier family 26 member 4 gene DOID:9005954 Mondini Dysplasia ISO RGD:736428 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:11317356|REF_RGD_ID:7421508 12405534 SLC26A4 solute carrier family 26 member 4 gene DOID:9006380 Bilateral Hearing Loss ISO RGD:736428 D RGD:9068941 20200609 RGD associated with Enlarged Vestibular Aqueduct;DNA:missense mutation:cds:p.V138L (human) PMID:19645628|REF_RGD_ID:7411669 12405534 SLC26A4 solute carrier family 26 member 4 gene DOID:9008681 Deafness ISO RGD:736428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness PMID:11317356|PMID:28492532|PMID:29372807|PMID:30303587|PMID:34170635 12405562 NADSYN1 NAD synthetase 1 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1602697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 12405562 NADSYN1 NAD synthetase 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1602697 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12405562 NADSYN1 NAD synthetase 1 gene DOID:1059 intellectual disability ISO RGD:1602697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12405562 NADSYN1 NAD synthetase 1 gene DOID:14692 Smith-Lemli-Opitz syndrome ISO RGD:1602697 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:23042628|PMID:24813812|PMID:25040602|PMID:25741868|PMID:28250423|PMID:28492532 12405562 NADSYN1 NAD synthetase 1 gene DOID:3070 high grade glioma susceptibility ISO RGD:1602697 D RGD:9068941 20200609 RGD PMID:22740028|REF_RGD_ID:13703114 12405562 NADSYN1 NAD synthetase 1 gene DOID:630 genetic disease ISO RGD:1602697 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23042628|PMID:24813812|PMID:25040602|PMID:25741868|PMID:28250423|PMID:28492532 12405562 NADSYN1 NAD synthetase 1 gene DOID:9003370 Dyslipidemias susceptibility ISO RGD:1602697 D RGD:9068941 20200609 RGD DNA:SNP: :rs12785878 G>T(human) PMID:24073860|REF_RGD_ID:13703112 12405562 NADSYN1 NAD synthetase 1 gene DOID:9005044 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 ISO RGD:1602697 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Vertebral, cardiac, renal, and limb defects syndrome 1 PMID:31883644|PMID:34681008|PMID:35491967 12405562 NADSYN1 NAD synthetase 1 gene DOID:9006359 Vitamin D Deficiency susceptibility ISO RGD:1602697 D RGD:9068941 20200609 RGD DNA:SNP: :rs10898191(human) PMID:22785457|REF_RGD_ID:11251488 12405562 NADSYN1 NAD synthetase 1 gene DOID:9008333 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 ISO RGD:1602697 D RGD:7240710 20200513 OMIM 12405562 NADSYN1 NAD synthetase 1 gene DOID:9008333 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 ISO RGD:1602697 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Vertebral, cardiac, renal, and limb defects syndrome 3 PMID:12547821|PMID:12771147|PMID:25741868|PMID:28492532|PMID:31883644 12405594 KIF16B kinesin family member 16B gene DOID:10283 prostate cancer ISO RGD:1320877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12405594 KIF16B kinesin family member 16B gene DOID:1059 intellectual disability ISO RGD:1320877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12405594 KIF16B kinesin family member 16B gene DOID:630 genetic disease ISO RGD:1320877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12405594 KIF16B kinesin family member 16B gene DOID:767 muscular atrophy ISO RGD:1320877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular atrophy PMID:25741868 12405633 HOXC4 homeobox C4 gene DOID:10485 esophageal atresia ISO RGD:1558279 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (mouse) PMID:17211587|REF_RGD_ID:10402180 12405633 HOXC4 homeobox C4 gene DOID:630 genetic disease ISO RGD:1351931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12405633 HOXC4 homeobox C4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:30309966 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:30309966 D RGD:9068941 20210409 RGD mRNA:increased expression:colon PMID:29747153|REF_RGD_ID:126779566 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:30309966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelodysplasia PMID:18723428|PMID:25741868 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:30309966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:0060888 transient myeloproliferative syndrome ISO RGD:30309966 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Transient myeloproliferative disorder of Down syndrome PMID:10068652|PMID:12200707|PMID:15156185|PMID:23817177|PMID:28492532 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:30309966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:0070004 myeloid neoplasm ISO RGD:736527 D RGD:9068941 20200609 RGD PMID:15784726|REF_RGD_ID:11251691 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:30309966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:30309966 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:15217836|PMID:24413735 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:0081312 T-cell non-Hodgkin lymphoma disease_progression ISO RGD:736527 D RGD:9068941 20200609 RGD PMID:12499254|REF_RGD_ID:11251707 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:0110648 long QT syndrome 6 ISO RGD:30309966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 PMID:21626672|PMID:28492532 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:0111152 multicentric Castleman disease ISO RGD:30309966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TAFRO syndrome PMID:25741868|PMID:28492532|PMID:31309983|PMID:32051554|PMID:33692461 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:30309966 D RGD:9068941 20210409 RGD mRNA:decreased expression:stomach PMID:15386419|REF_RGD_ID:126775146 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:11446 sciatic neuropathy ISO RGD:736527 D RGD:9068941 20200609 RGD mRNA:decreased expression:dorsal root ganglion PMID:22216140|REF_RGD_ID:6482827 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:12450 pancytopenia ISO RGD:30309966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancytopenia PMID:25741868|PMID:31064749 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:1380 endometrial cancer ISO RGD:30309966 D RGD:9068941 20210409 RGD mRNA:decreased expression:endometrium PMID:33408517|REF_RGD_ID:126775148 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:1588 thrombocytopenia ISO RGD:30309966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10068652|PMID:10508512|PMID:10973259|PMID:11830488|PMID:12002768|PMID:16199547|PMID:17485549|PMID:17650443|PMID:18723428|PMID:19357396|PMID:22012064|PMID:22318203|PMID:23751892|PMID:24100448|PMID:25741868|PMID:25840971|PMID:26316320|PMID:27112265|PMID:27418648|PMID:27479822|PMID:27931139|PMID:28102861|PMID:28240786|PMID:28492532|PMID:31064749|PMID:31698193|PMID:32098966|PMID:32208489|PMID:32581362|PMID:32935436 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:2213 hemorrhagic disease ISO RGD:30309966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10068652|PMID:11830488|PMID:12002768|PMID:17485549|PMID:17650443|PMID:19357396|PMID:22012064|PMID:25741868|PMID:26316320|PMID:27112265|PMID:27479822|PMID:28492532|PMID:31064749|PMID:31698193|PMID:32208489|PMID:32581362|PMID:32935436 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:2218 blood platelet disease ISO RGD:30309966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Platelet disorder PMID:10508512|PMID:11830488|PMID:22012064|PMID:23848403|PMID:25741868|PMID:25840971|PMID:26175287|PMID:26916619|PMID:27210295|PMID:28492532|PMID:28960434|PMID:31048839 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:2223 platelet storage pool deficiency ISO RGD:30309966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Storage pool disease of platelets PMID:25741868|PMID:31064749 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:289 endometriosis ISO RGD:2283 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:17845203|REF_RGD_ID:2303708 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:3033 colon signet ring adenocarcinoma ISO RGD:30309966 D RGD:9068941 20210409 RGD mRNA:increased expression:colon PMID:29747153|REF_RGD_ID:126779566 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:3068 glioblastoma ISO RGD:30309966 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:23582323 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736527 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:18000159|REF_RGD_ID:6482832 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:2283 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:24672479|REF_RGD_ID:11251714 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:30309966 D RGD:9068941 20210409 RGD DNA:SNP: :rs2014300 (human) PMID:30666517|REF_RGD_ID:126775149 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:30309966 D RGD:9068941 20210409 RGD mRNA:alternative form:lung PMID:26685324|REF_RGD_ID:126779572 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:3910 lung adenocarcinoma ISO RGD:30309966 D RGD:9068941 20210409 RGD PMID:28926105|REF_RGD_ID:126779571 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:417 autoimmune disease ISO RGD:736527 D RGD:9068941 20200609 RGD PMID:22551552|REF_RGD_ID:6482826 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:30309966 D RGD:9068941 20210409 RGD mRNA:increased expression:intrahepatic bile duct PMID:31015363|REF_RGD_ID:126775143 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:5074 high grade ependymoma ISO RGD:30309966 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant ependymoma PMID:23753029|PMID:25741868|PMID:26580448|PMID:28492532|PMID:28801348|PMID:29365323 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:736527 D RGD:9068941 20200609 RGD PMID:16051740|REF_RGD_ID:11251682 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:5889 anaplastic ependymoma ISO RGD:30309966 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Anaplastic ependymoma PMID:23753029|PMID:25741868|PMID:26580448|PMID:28492532|PMID:28801348|PMID:29365323 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:630 genetic disease ISO RGD:30309966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:30309966 D RGD:9068941 20210409 RGD mRNA:decreased expression:liver PMID:17094378|REF_RGD_ID:126775147 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:30309966 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:8761 acute megakaryocytic leukemia onset ISO RGD:736527 D RGD:9068941 20200609 RGD PMID:15856017|REF_RGD_ID:11251701 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:30309966 D RGD:9068941 20210409 RGD associated with Carcinoid Tumor PMID:21636701|REF_RGD_ID:126779567 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:9002245 Intestinal Neoplasms ISO RGD:736527 D RGD:9068941 20210409 RGD PMID:22171576|REF_RGD_ID:126775145 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:30309966 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:17909013 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:9002589 Bone Fractures ISO RGD:2283 D RGD:9068941 20200609 RGD PMID:21252473|REF_RGD_ID:11252151 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:30309966 D RGD:7240710 20200624 OMIM 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:30309966 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy | ClinVar Annotator: match by term: Familial thrombocytopenia with propensity to acute myelogenous leukemia | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Platelet disorder, Aspirin-like PMID:10068652|PMID:10508512|PMID:10594034|PMID:10973259|PMID:11276260|PMID:11830488|PMID:12002768|PMID:12060124|PMID:12172547|PMID:12200707|PMID:12377125|PMID:12393679|PMID:12807882|PMID:12874780|PMID:14504086|PMID:15156185|PMID:15749889|PMID:16199547|PMID:17234761|PMID:17290219|PMID:17485549|PMID:17576681|PMID:17650443|PMID:18478040|PMID:18487507|PMID:18723428|PMID:19357396|PMID:19387465|PMID:19448675|PMID:1958483|PMID:19679353|PMID:19808697|PMID:19946261|PMID:20549580|PMID:20722699|PMID:20846103|PMID:20880108|PMID:20955399|PMID:21626672|PMID:21725049|PMID:21880633|PMID:22012064|PMID:22318203|PMID:22689681|PMID:22898599|PMID:23751892|PMID:23753029|PMID:23817177|PMID:23848403|PMID:24100448|PMID:24374719|PMID:24523240|PMID:24616160|PMID:24659740|PMID:24732596|PMID:24853048|PMID:25159113|PMID:25490895|PMID:25640679|PMID:25741868|PMID:25840971|PMID:26175287|PMID:26316320|PMID:26525156|PMID:26580448|PMID:26884589|PMID:26916619|PMID:27106701|PMID:27112265|PMID:27137476|PMID:27210295|PMID:27294619|PMID:27418648|PMID:27479822|PMID:27931139|PMID:28102861|PMID:28179279|PMID:28231333|PMID:28240786|PMID:28492532|PMID:28513614|PMID:28659335|PMID:28748566|PMID:28801348|PMID:28855357|PMID:28933735|PMID:28960434|PMID:29055018|PMID:29146883|PMID:29365323|PMID:29666006|PMID:30990344|PMID:31034769|PMID:31048839|PMID:31064749|PMID:31135094|PMID:31245275|PMID:31289210|PMID:31309983|PMID:31470354|PMID:31648317|PMID:31698193|PMID:31876204|PMID:31989091|PMID:32051554|PMID:32208489|PMID:32315381|PMID:32570879|PMID:32581362|PMID:32935436|PMID:33075818|PMID:33692461|PMID:34166225|PMID:34355501|PMID:9536098|PMID:9606182|PMID:9837750 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:9004441 Experimental Leukemia treatment ISO RGD:736527 D RGD:9068941 20200609 RGD PMID:19236814|REF_RGD_ID:11251683 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2283 D RGD:9068941 20210409 RGD mRNA:increased expression:mammary gland PMID:29435983|REF_RGD_ID:126779584 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:30309966 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12172547|PMID:22012064|PMID:23753029|PMID:23817177|PMID:25741868|PMID:25840971|PMID:26580448|PMID:27106701|PMID:28492532|PMID:28801348|PMID:29365323|PMID:31135094|PMID:31289210|PMID:31876204|PMID:32315381|PMID:32935436|PMID:34166225 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:9007921 Spina Bifida Cystica treatment ISO RGD:2283 D RGD:9068941 20200609 RGD PMID:26172505|REF_RGD_ID:11251712 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:30309966 D RGD:7240710 20200624 OMIM 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:30309966 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia PMID:10068652|PMID:10508512|PMID:11276260|PMID:12200707|PMID:12377125|PMID:12393679|PMID:12807882|PMID:15156185|PMID:19357396|PMID:19387465|PMID:19808697|PMID:20549580|PMID:20722699|PMID:20880108|PMID:23817177|PMID:24374719|PMID:24616160|PMID:24659740|PMID:24764152|PMID:24904105|PMID:25741868|PMID:27294619|PMID:28231333|PMID:28492532|PMID:28513614|PMID:29365323|PMID:31064749|PMID:32098966|PMID:32581362|PMID:34355501 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:30309966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, m0 subtype PMID:10068652|PMID:10508512|PMID:11276260|PMID:12200707|PMID:12377125|PMID:12393679|PMID:12807882|PMID:15156185|PMID:16199547|PMID:17234761|PMID:18723428|PMID:19357396|PMID:19387465|PMID:19808697|PMID:20549580|PMID:20722699|PMID:20880108|PMID:23817177|PMID:24100448|PMID:24374719|PMID:24523240|PMID:24616160|PMID:24659740|PMID:25741868|PMID:25840971|PMID:27112265|PMID:27294619|PMID:28231333|PMID:28492532|PMID:28513614|PMID:29365323|PMID:31034769|PMID:31064749|PMID:32098966|PMID:32315381|PMID:32581362|PMID:34166225 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:9256 colorectal cancer ISO RGD:30309966 D RGD:9068941 20210409 RGD PMID:25925209|REF_RGD_ID:126779569 12405646 RUNX1 RUNX family transcription factor 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:30309966 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:17255265 12405662 TIMD4 T cell immunoglobulin and mucin domain containing 4 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1353666 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 12405662 TIMD4 T cell immunoglobulin and mucin domain containing 4 gene DOID:5119 ovarian cyst ISO RGD:1353666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12405662 TIMD4 T cell immunoglobulin and mucin domain containing 4 gene DOID:630 genetic disease ISO RGD:1353666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12405662 TIMD4 T cell immunoglobulin and mucin domain containing 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1353666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12405662 TIMD4 T cell immunoglobulin and mucin domain containing 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:1557669 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12405675 PARD6A par-6 family cell polarity regulator alpha gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1345737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 12405675 PARD6A par-6 family cell polarity regulator alpha gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1345737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12405675 PARD6A par-6 family cell polarity regulator alpha gene DOID:630 genetic disease ISO RGD:1345737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12405684 GPR139 G protein-coupled receptor 139 gene DOID:630 genetic disease ISO RGD:1323337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12405689 REC8 REC8 meiotic recombination protein gene DOID:0060439 lysinuric protein intolerance ISO RGD:1319692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12405689 REC8 REC8 meiotic recombination protein gene DOID:0070168 spermatogenic failure 3 ISO RGD:1319692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:31479588 12405689 REC8 REC8 meiotic recombination protein gene DOID:14227 azoospermia ISO RGD:1319692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 12405689 REC8 REC8 meiotic recombination protein gene DOID:1909 melanoma ISO RGD:1319692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 12405689 REC8 REC8 meiotic recombination protein gene DOID:5426 primary ovarian insufficiency ISO RGD:1319692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure | ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12405689 REC8 REC8 meiotic recombination protein gene DOID:630 genetic disease ISO RGD:1319692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12405689 REC8 REC8 meiotic recombination protein gene DOID:9000265 Specific Granule Deficiency ISO RGD:1319692 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12405689 REC8 REC8 meiotic recombination protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12405689 REC8 REC8 meiotic recombination protein gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319692 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12405712 DIO2 iodothyronine deiodinase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:735779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 12405712 DIO2 iodothyronine deiodinase 2 gene DOID:10763 hypertension susceptibility ISO RGD:735779 D RGD:9068941 20200609 RGD protein:substitution:Thr92Ala PMID:17224473|REF_RGD_ID:1626437 12405712 DIO2 iodothyronine deiodinase 2 gene DOID:289 endometriosis ISO RGD:735779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12405712 DIO2 iodothyronine deiodinase 2 gene DOID:50 thyroid gland disease ISO RGD:735779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 12405712 DIO2 iodothyronine deiodinase 2 gene DOID:630 genetic disease ISO RGD:735779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12405712 DIO2 iodothyronine deiodinase 2 gene DOID:9003566 Mesothelioma ISO RGD:735779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11425850 12405712 DIO2 iodothyronine deiodinase 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:735779 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.T92A (human) PMID:18198294|REF_RGD_ID:2313696 12405712 DIO2 iodothyronine deiodinase 2 gene DOID:9007692 Insulin Resistance ISO RGD:735779 D RGD:9068941 20200609 RGD DNA:SNP: :rs225014, p.T92A (human) PMID:11872697|REF_RGD_ID:2313698 12405712 DIO2 iodothyronine deiodinase 2 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:735779 D RGD:9068941 20200609 RGD DNA:SNP: :rs225014, p.T92A (human) PMID:17077128|REF_RGD_ID:1626439 12405712 DIO2 iodothyronine deiodinase 2 gene DOID:9970 obesity no_association ISO RGD:735779 D RGD:9068941 20200609 RGD protein:substitution:Thr92Ala PMID:17077128|REF_RGD_ID:1626439 12405718 PDGFRL platelet derived growth factor receptor like gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1317560 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 12405718 PDGFRL platelet derived growth factor receptor like gene DOID:1520 colon carcinoma ISO RGD:1317560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:7898930 12405718 PDGFRL platelet derived growth factor receptor like gene DOID:630 genetic disease ISO RGD:1317560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12405718 PDGFRL platelet derived growth factor receptor like gene DOID:684 hepatocellular carcinoma ISO RGD:1317560 D RGD:7240710 20180130 OMIM 12405718 PDGFRL platelet derived growth factor receptor like gene DOID:684 hepatocellular carcinoma ISO RGD:1317560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:7898930 12405718 PDGFRL platelet derived growth factor receptor like gene DOID:9008443 Colorectal Neoplasms ISO RGD:1317560 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 12405718 PDGFRL platelet derived growth factor receptor like gene DOID:9256 colorectal cancer ISO RGD:1317560 D RGD:7240710 20200226 OMIM 12405731 KCNH4 potassium voltage-gated channel subfamily H member 4 gene DOID:630 genetic disease ISO RGD:733889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12405752 POLR3H RNA polymerase III subunit H gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1314191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12405752 POLR3H RNA polymerase III subunit H gene DOID:0050883 infantile cerebellar-retinal degeneration ISO RGD:1314191 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration PMID:24088041|PMID:25351951|PMID:25741868|PMID:26992325|PMID:28492532|PMID:29564393|PMID:30689204|PMID:31130284|PMID:32519519 12405752 POLR3H RNA polymerase III subunit H gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1314191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 12405752 POLR3H RNA polymerase III subunit H gene DOID:0111442 optic atrophy 9 ISO RGD:1314191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Optic atrophy 9 PMID:25351951|PMID:25741868|PMID:28492532|PMID:32449285|PMID:34056600 12405752 POLR3H RNA polymerase III subunit H gene DOID:5426 primary ovarian insufficiency ISO RGD:1314192 D RGD:9068941 20220825 MouseDO 12405752 POLR3H RNA polymerase III subunit H gene DOID:630 genetic disease ISO RGD:1314191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:30689204|PMID:32519519|PMID:9536098 12405766 LASP1 LIM and SH3 protein 1 gene DOID:12849 autistic disorder ISO RGD:68601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17376794 12405766 LASP1 LIM and SH3 protein 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:68601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12405766 LASP1 LIM and SH3 protein 1 gene DOID:630 genetic disease ISO RGD:68601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12405766 LASP1 LIM and SH3 protein 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:68601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28232485 12405783 C9H17orf80 chromosome 9 C17orf80 homolog gene DOID:10283 prostate cancer ISO RGD:1602883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12405783 C9H17orf80 chromosome 9 C17orf80 homolog gene DOID:630 genetic disease ISO RGD:1602883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12405802 MAMLD1 mastermind like domain containing 1 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:1344424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 12405802 MAMLD1 mastermind like domain containing 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12405802 MAMLD1 mastermind like domain containing 1 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:1344424 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 12405802 MAMLD1 mastermind like domain containing 1 gene DOID:10283 prostate cancer ISO RGD:1344424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12405802 MAMLD1 mastermind like domain containing 1 gene DOID:10892 hypospadias ISO RGD:1344424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21559465 12405802 MAMLD1 mastermind like domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1344424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12405802 MAMLD1 mastermind like domain containing 1 gene DOID:1923 disorder of sexual development ISO RGD:1344424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 12405802 MAMLD1 mastermind like domain containing 1 gene DOID:630 genetic disease ISO RGD:1344424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12405802 MAMLD1 mastermind like domain containing 1 gene DOID:9003647 Hypospadias 2, X-Linked ISO RGD:1344424 D RGD:7240710 20180130 OMIM 12405802 MAMLD1 mastermind like domain containing 1 gene DOID:9003647 Hypospadias 2, X-Linked ISO RGD:1344424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypospadias 2, X-linked PMID:17086185|PMID:20347055|PMID:25741868|PMID:28492532|PMID:32690052|PMID:33424767 12405823 MAPRE1 microtubule associated protein RP/EB family member 1 gene DOID:630 genetic disease ISO RGD:1353139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12405823 MAPRE1 microtubule associated protein RP/EB family member 1 gene DOID:9004657 Weight Gain ISO RGD:1353139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12405823 MAPRE1 microtubule associated protein RP/EB family member 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1353139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12405841 FANCB FA complementation group B gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1351449 D RGD:9068941 20200609 RGD PMID:17409780|REF_RGD_ID:11049143 12405841 FANCB FA complementation group B gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1351449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 12405841 FANCB FA complementation group B gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1351449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia, group A PMID:25741868|PMID:28492532 12405841 FANCB FA complementation group B gene DOID:0111098 Fanconi anemia complementation group B ISO RGD:1351449 D RGD:7240710 20180130 OMIM 12405841 FANCB FA complementation group B gene DOID:0111098 Fanconi anemia complementation group B ISO RGD:1351449 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 2 | ClinVar Annotator: match by term: Fanconi anemia complementation group B PMID:15502827|PMID:16679491|PMID:17924555|PMID:21910217|PMID:23613520|PMID:24033266|PMID:25168418|PMID:25741868|PMID:28492532|PMID:32106311|PMID:32546565|PMID:8368240 12405841 FANCB FA complementation group B gene DOID:0111140 IGSF1 deficiency syndrome ISO RGD:1351449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement PMID:24033266|PMID:25741868|PMID:28492532 12405841 FANCB FA complementation group B gene DOID:0111766 X-linked VACTERL association ISO RGD:1351449 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H PMID:24033266|PMID:25741868|PMID:28492532|PMID:32546565 12405841 FANCB FA complementation group B gene DOID:12849 autistic disorder ISO RGD:1351449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12405841 FANCB FA complementation group B gene DOID:13636 Fanconi anemia ISO RGD:1351449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:15502827|PMID:16199547|PMID:17576681|PMID:23613520|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32410215|PMID:32546565|PMID:9536098 12405841 FANCB FA complementation group B gene DOID:1612 breast cancer ISO RGD:1351449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532 12405841 FANCB FA complementation group B gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1351449 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:20332657|REF_RGD_ID:11344903 12405841 FANCB FA complementation group B gene DOID:630 genetic disease ISO RGD:1351449 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12405841 FANCB FA complementation group B gene DOID:9001972 Syndromic X-Linked Intellectual Disability Pilorge type ISO RGD:1351449 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type PMID:20479760|PMID:25741868|PMID:28588452 12405841 FANCB FA complementation group B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12405943 USP11 ubiquitin specific peptidase 11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12405943 USP11 ubiquitin specific peptidase 11 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 12405943 USP11 ubiquitin specific peptidase 11 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12405943 USP11 ubiquitin specific peptidase 11 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12405943 USP11 ubiquitin specific peptidase 11 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 12405943 USP11 ubiquitin specific peptidase 11 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347156 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12405943 USP11 ubiquitin specific peptidase 11 gene DOID:12849 autistic disorder ISO RGD:1347156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12405943 USP11 ubiquitin specific peptidase 11 gene DOID:630 genetic disease ISO RGD:1347156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12405943 USP11 ubiquitin specific peptidase 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12405943 USP11 ubiquitin specific peptidase 11 gene DOID:9563 bronchiectasis ISO RGD:1347156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bronchiectasis 12405968 SLC25A32 solute carrier family 25 member 32 gene DOID:0111590 Cohen syndrome ISO RGD:1605933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12405968 SLC25A32 solute carrier family 25 member 32 gene DOID:10283 prostate cancer ISO RGD:1605933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:28492532 12405968 SLC25A32 solute carrier family 25 member 32 gene DOID:630 genetic disease ISO RGD:1605933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12405968 SLC25A32 solute carrier family 25 member 32 gene DOID:9006878 Exercise Intolerance ISO RGD:1605933 D RGD:7240710 20190315 OMIM 12405968 SLC25A32 solute carrier family 25 member 32 gene DOID:9006878 Exercise Intolerance ISO RGD:1605933 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Exercise intolerance, riboflavin-responsive PMID:25741868|PMID:26933868|PMID:28492532 12405979 TM9SF4 transmembrane 9 superfamily member 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1317150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12405979 TM9SF4 transmembrane 9 superfamily member 4 gene DOID:630 genetic disease ISO RGD:1317150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:10763 hypertension ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:23499735|REF_RGD_ID:11561939 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1347480 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:25209900|REF_RGD_ID:11558015 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:1596 depressive disorder treatment ISO RGD:1332294 D RGD:9068941 20200609 RGD PMID:25386878|REF_RGD_ID:11561930 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:1686 glaucoma ISO RGD:735183 D RGD:9068941 20200609 RGD protein:increased expression:optic nerve PMID:24136224|REF_RGD_ID:13782046 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:224 transient cerebral ischemia treatment ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:22509406|REF_RGD_ID:11561910 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:2843 long QT syndrome ISO RGD:1347480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:3068 glioblastoma treatment ISO RGD:1347480 D RGD:9068941 20200609 RGD PMID:24905460|REF_RGD_ID:11561946 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:326 ischemia ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:25435100|REF_RGD_ID:11561945 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1332294 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:23851366|REF_RGD_ID:11561951 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:5082 liver cirrhosis ISO RGD:1347480 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:22895779|REF_RGD_ID:11561934 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:5327 retinal detachment ISO RGD:1332294 D RGD:9068941 20200609 RGD PMID:26093278|REF_RGD_ID:11561987 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:5327 retinal detachment ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:26093278|REF_RGD_ID:11561987 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:5844 myocardial infarction treatment ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:20079142|REF_RGD_ID:11561913 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:630 genetic disease ISO RGD:1347480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:90 degenerative disc disease ISO RGD:735183 D RGD:9068941 20200609 RGD protein:increased expression:intervertebral disc PMID:22835012|REF_RGD_ID:11561942 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9000039 Spinal Cord Injuries ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:24559459|REF_RGD_ID:11561918 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9000039 Spinal Cord Injuries ISO RGD:735183 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:23637053|REF_RGD_ID:11564330 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:23852559|REF_RGD_ID:11561922 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:24990154|REF_RGD_ID:11561988 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9000998 Brain Injuries ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:24221859|REF_RGD_ID:11558018 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9002211 Hyperalgesia ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:23665054|REF_RGD_ID:11560531 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9002676 Cerebral Hemorrhage ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:23884876|REF_RGD_ID:11561935 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9002955 Nerve Degeneration ISO RGD:735183 D RGD:9068941 20200609 RGD protein:increased expression:lumbar spinal cord ventral horn PMID:21436843|REF_RGD_ID:5685686 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:25919564|REF_RGD_ID:11558017 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9003936 Cardiomegaly treatment ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:24998254|REF_RGD_ID:11561938 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9004332 Osteoarthritis, Experimental treatment ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:23589102|REF_RGD_ID:11561955 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1332294 D RGD:9068941 20200609 RGD PMID:20075199|REF_RGD_ID:11561916 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:26412257|REF_RGD_ID:11561958 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9006281 Temporomandibular Joint Disorders ISO RGD:735183 D RGD:9068941 20200609 RGD protein:increased expression:cartilage tissue PMID:23386193|REF_RGD_ID:10041017 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:1332294 D RGD:9068941 20200609 RGD PMID:22850625|REF_RGD_ID:11560530 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9007730 Burns ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:24730400|REF_RGD_ID:11561936 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1332294 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:20812860|REF_RGD_ID:11561944 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:20821058|REF_RGD_ID:11561911 12406002 MAP1LC3A microtubule associated protein 1 light chain 3 alpha gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:21820301|REF_RGD_ID:11561956 12406015 ADAM7 ADAM metallopeptidase domain 7 gene DOID:5223 infertility ISO RGD:62324 D RGD:9068941 20200609 RGD PMID:26246218|REF_RGD_ID:13831360 12406015 ADAM7 ADAM metallopeptidase domain 7 gene DOID:630 genetic disease ISO RGD:736113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406041 TAGLN transgelin gene DOID:0060017 CD3epsilon deficiency ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12406041 TAGLN transgelin gene DOID:0060837 isolated microphthalmia 5 ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12406041 TAGLN transgelin gene DOID:0080685 aortic dissection treatment ISO RGD:11323 D RGD:9068941 20230223 RGD Apolipoprotein E knockout PMID:33403385|REF_RGD_ID:156420156 12406041 TAGLN transgelin gene DOID:0080690 RASopathy ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12406041 TAGLN transgelin gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12406041 TAGLN transgelin gene DOID:0111123 nephronophthisis 15 ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 12406041 TAGLN transgelin gene DOID:0111971 immunodeficiency 18 ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12406041 TAGLN transgelin gene DOID:0111972 immunodeficiency 19 ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12406041 TAGLN transgelin gene DOID:0111973 immunodeficiency 17 ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12406041 TAGLN transgelin gene DOID:1059 intellectual disability ISO RGD:11324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12406041 TAGLN transgelin gene DOID:289 endometriosis ISO RGD:11324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12406041 TAGLN transgelin gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:11324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12406041 TAGLN transgelin gene DOID:630 genetic disease ISO RGD:11324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406041 TAGLN transgelin gene DOID:9000058 Keloid ISO RGD:11324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12406041 TAGLN transgelin gene DOID:9002928 Colonic Neoplasms ISO RGD:11324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12406041 TAGLN transgelin gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:11324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12406041 TAGLN transgelin gene DOID:9006182 Carotid Artery Injuries ISO RGD:3723 D RGD:9068941 20230202 RGD mRNA:decreased expression:carotid artery: PMID:34694145|REF_RGD_ID:155883160 12406041 TAGLN transgelin gene DOID:9007661 Dwarfism ISO RGD:11324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12406041 TAGLN transgelin gene DOID:9455 lipid storage disease ISO RGD:11324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557 12406050 EFCAB11 EF-hand calcium binding domain 11 gene DOID:630 genetic disease ISO RGD:1343471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406080 SMURF2 SMAD specific E3 ubiquitin protein ligase 2 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1552490 D RGD:9068941 20220825 MouseDO 12406080 SMURF2 SMAD specific E3 ubiquitin protein ligase 2 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1345810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 12406080 SMURF2 SMAD specific E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1345810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406103 MYCBPAP MYCBP associated protein gene DOID:630 genetic disease ISO RGD:1345665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406126 PAPPA pappalysin 1 gene DOID:0110581 autosomal dominant nonsyndromic deafness 56 ISO RGD:1317112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 56 PMID:21681106|PMID:23936043 12406126 PAPPA pappalysin 1 gene DOID:10763 hypertension ISO RGD:1317112 D RGD:9068941 20200609 RGD associated with Pregnancy Complications, Cardiovascular;protein:decreased expression:serum PMID:12224070|REF_RGD_ID:1642331 12406126 PAPPA pappalysin 1 gene DOID:2349 arteriosclerosis ISO RGD:1317112 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16614002|REF_RGD_ID:1642326 12406126 PAPPA pappalysin 1 gene DOID:2349 arteriosclerosis ISO RGD:1317113 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:17510462|REF_RGD_ID:1642325 12406126 PAPPA pappalysin 1 gene DOID:289 endometriosis ISO RGD:1317112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12406126 PAPPA pappalysin 1 gene DOID:3393 coronary artery disease ISO RGD:1317112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11586954 12406126 PAPPA pappalysin 1 gene DOID:3393 coronary artery disease severity ISO RGD:1317112 D RGD:9068941 20200609 RGD PMID:16055491|REF_RGD_ID:1642327 12406126 PAPPA pappalysin 1 gene DOID:3407 carotid artery disease ISO RGD:1317112 D RGD:9068941 20200609 RGD associated with Hyperlipidemia;protein:increased expression:serum PMID:12524241|REF_RGD_ID:1642330 12406126 PAPPA pappalysin 1 gene DOID:5844 myocardial infarction ISO RGD:1317112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11586954 12406126 PAPPA pappalysin 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1317112 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:17700210|REF_RGD_ID:1642324 12406126 PAPPA pappalysin 1 gene DOID:630 genetic disease ISO RGD:1317112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406126 PAPPA pappalysin 1 gene DOID:8805 intermediate coronary syndrome ISO RGD:1317112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11586954 12406126 PAPPA pappalysin 1 gene DOID:90 degenerative disc disease ISO RGD:1317112 D RGD:9068941 20200609 RGD protein:increased expression:vertebral disc: PMID:18552658|REF_RGD_ID:10412724 12406126 PAPPA pappalysin 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1317112 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum PMID:15531533|REF_RGD_ID:1642328 12406126 PAPPA pappalysin 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1317112 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14661010|REF_RGD_ID:1642329 12406126 PAPPA pappalysin 1 gene DOID:9000888 Pregnancy in Diabetics ISO RGD:1317112 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:serum PMID:9512318|REF_RGD_ID:2313777 12406126 PAPPA pappalysin 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1317112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11586954 12406126 PAPPA pappalysin 1 gene DOID:9007456 Female Infertility ISO RGD:1317112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20130263 12406126 PAPPA pappalysin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317112 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17728480|REF_RGD_ID:2313776 12406156 ADGRA1 adhesion G protein-coupled receptor A1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1317902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12406156 ADGRA1 adhesion G protein-coupled receptor A1 gene DOID:630 genetic disease ISO RGD:1317902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406166 VEGFD vascular endothelial growth factor D gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12406166 VEGFD vascular endothelial growth factor D gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:731830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 12406166 VEGFD vascular endothelial growth factor D gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731830 D RGD:9068941 20200609 RGD PMID:17970053|REF_RGD_ID:2315479 12406166 VEGFD vascular endothelial growth factor D gene DOID:12849 autistic disorder ISO RGD:731830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12406166 VEGFD vascular endothelial growth factor D gene DOID:13636 Fanconi anemia ISO RGD:731830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 12406166 VEGFD vascular endothelial growth factor D gene DOID:3319 lymphangioleiomyomatosis ISO RGD:731830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20038814 12406166 VEGFD vascular endothelial growth factor D gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:731830 D RGD:9068941 20221027 RGD protein:increased expression:blood serum (human) PMID:21410412|REF_RGD_ID:155630646 12406166 VEGFD vascular endothelial growth factor D gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:731830 D RGD:9068941 20200609 RGD PMID:18343598|REF_RGD_ID:2315478 12406166 VEGFD vascular endothelial growth factor D gene DOID:7575 pancreatic intraductal papillary-mucinous neoplasm ISO RGD:731830 D RGD:9068941 20221027 RGD protein:increased expression:blood serum (human) PMID:21410412|REF_RGD_ID:155630646 12406166 VEGFD vascular endothelial growth factor D gene DOID:9000081 Lymphatic Metastasis ISO RGD:731830 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:17951197|REF_RGD_ID:2315480 12406166 VEGFD vascular endothelial growth factor D gene DOID:9000081 Lymphatic Metastasis ISO RGD:731830 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms PMID:19589137|REF_RGD_ID:2315475 12406166 VEGFD vascular endothelial growth factor D gene DOID:9004009 Reperfusion Injury ISO RGD:731830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 12406166 VEGFD vascular endothelial growth factor D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12406180 SCOC short coiled-coil protein gene DOID:630 genetic disease ISO RGD:1323537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406193 PKP1 plakophilin 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1316687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12406193 PKP1 plakophilin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1316687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12406193 PKP1 plakophilin 1 gene DOID:2121 ectodermal dysplasia ISO RGD:1316687 D RGD:9068941 20200609 RGD PMID:9326952|REF_RGD_ID:1599084 12406193 PKP1 plakophilin 1 gene DOID:630 genetic disease ISO RGD:1316687 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12406193 PKP1 plakophilin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1316687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12406193 PKP1 plakophilin 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1316687 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12406193 PKP1 plakophilin 1 gene DOID:9006397 Ectodermal Dysplasia-Skin Fragility Syndrome IAGP D RGD:12801476 20210603 OMIA Ectodermal dysplasia/skin fragility syndrome PMID:22384142 12406193 PKP1 plakophilin 1 gene DOID:9006397 Ectodermal Dysplasia-Skin Fragility Syndrome ISO RGD:1316687 D RGD:7240710 20180130 OMIM 12406193 PKP1 plakophilin 1 gene DOID:9006397 Ectodermal Dysplasia-Skin Fragility Syndrome ISO RGD:1316687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mcgrath syndrome PMID:10951270|PMID:11994137|PMID:16781314|PMID:24073657|PMID:25741868|PMID:28492532|PMID:9326952 12406193 PKP1 plakophilin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12406211 CCDC71 coiled-coil domain containing 71 gene DOID:0060852 Pierson syndrome ISO RGD:1601742 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 12406211 CCDC71 coiled-coil domain containing 71 gene DOID:630 genetic disease ISO RGD:1601742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406211 CCDC71 coiled-coil domain containing 71 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1601742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12406224 FOXI2 forkhead box I2 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1602262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12406224 FOXI2 forkhead box I2 gene DOID:630 genetic disease ISO RGD:1602262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406228 SRBD1 S1 RNA binding domain 1 gene DOID:3883 Lynch syndrome ISO RGD:1602705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12406228 SRBD1 S1 RNA binding domain 1 gene DOID:630 genetic disease ISO RGD:1602705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406253 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0050545 visceral heterotaxy ISO RGD:1622226 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 12406253 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1319654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 12406253 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0080322 polycystic kidney disease ISO RGD:3334 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R823W(rat) PMID:21119215|REF_RGD_ID:7207426 12406253 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0080322 polycystic kidney disease ISO RGD:3334 D RGD:9068941 20210212 RGD PMID:16207829|PMID:7933831|REF_RGD_ID:11534987|REF_RGD_ID:1300446 12406253 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1319654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 12406253 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1319654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 12406253 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0111124 nephronophthisis 16 ISO RGD:1319654 D RGD:7240710 20180130 OMIM 12406253 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0111124 nephronophthisis 16 ISO RGD:1319654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 16 PMID:17576681|PMID:23793029|PMID:24610927|PMID:25599650|PMID:25741868|PMID:28492532|PMID:9536098 12406253 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:1059 intellectual disability ISO RGD:1319654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12406253 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:12712 nephronophthisis ISO RGD:1319654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 12406253 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1319654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 12406253 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:2975 cystic kidney disease ISO RGD:1319654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23793029 12406253 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:4676 uremia ISO RGD:3334 D RGD:9068941 20210212 RGD PMID:7933831|REF_RGD_ID:1300446 12406253 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:5082 liver cirrhosis ISO RGD:1319654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23793029 12406253 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:576 proteinuria ISO RGD:3334 D RGD:9068941 20210212 RGD PMID:7933831|REF_RGD_ID:1300446 12406253 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:630 genetic disease ISO RGD:1319654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12406253 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:758 situs inversus ISO RGD:1319654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23793029 12406253 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1319654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12089381 12406253 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:9001793 Generalized Epilepsy ISO RGD:1319654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 12406253 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1319654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23793029 12406366 LOC106560126 zinc finger protein 559 gene DOID:12849 autistic disorder ISO RGD:1352023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12406366 LOC106560126 zinc finger protein 559 gene DOID:630 genetic disease ISO RGD:1352023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406366 LOC106560126 zinc finger protein 559 gene DOID:9000217 Stomach Neoplasms ISO RGD:1352023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12406382 PTGDS prostaglandin D2 synthase gene DOID:0050777 Joubert syndrome ISO RGD:737496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12406382 PTGDS prostaglandin D2 synthase gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:737496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12406382 PTGDS prostaglandin D2 synthase gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:737496 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12406382 PTGDS prostaglandin D2 synthase gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:737496 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12406382 PTGDS prostaglandin D2 synthase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:737496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12406382 PTGDS prostaglandin D2 synthase gene DOID:0080324 tuberous sclerosis 1 ISO RGD:737496 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12406382 PTGDS prostaglandin D2 synthase gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:737496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12406382 PTGDS prostaglandin D2 synthase gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:737496 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12406382 PTGDS prostaglandin D2 synthase gene DOID:0081097 Rafiq syndrome ISO RGD:737496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12406382 PTGDS prostaglandin D2 synthase gene DOID:10003 sensorineural hearing loss ISO RGD:3433 D RGD:9068941 20200609 RGD protein:decreased expression:cochlea: PMID:23827367|REF_RGD_ID:7349365 12406382 PTGDS prostaglandin D2 synthase gene DOID:10763 hypertension ISO RGD:737496 D RGD:9068941 20200609 RGD protein:increased expression:serum, urine PMID:11882588|REF_RGD_ID:1642584 12406382 PTGDS prostaglandin D2 synthase gene DOID:11664 nephrosclerosis ISO RGD:737496 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:serum, urine PMID:11882588|REF_RGD_ID:1642584 12406382 PTGDS prostaglandin D2 synthase gene DOID:1826 epilepsy ISO RGD:737496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12406382 PTGDS prostaglandin D2 synthase gene DOID:2349 arteriosclerosis susceptibility ISO RGD:11182 D RGD:9068941 20200609 RGD PMID:15970590|REF_RGD_ID:1642581 12406382 PTGDS prostaglandin D2 synthase gene DOID:3407 carotid artery disease susceptibility ISO RGD:737496 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:polymorphism:3'utr:4111A>C PMID:15325247|REF_RGD_ID:1642582 12406382 PTGDS prostaglandin D2 synthase gene DOID:3652 Leigh disease ISO RGD:737496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12406382 PTGDS prostaglandin D2 synthase gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:11182 D RGD:9068941 20200609 RGD PMID:15970590|REF_RGD_ID:1642581 12406382 PTGDS prostaglandin D2 synthase gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:737496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12406382 PTGDS prostaglandin D2 synthase gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:11182 D RGD:9068941 20200609 RGD PMID:15970590|REF_RGD_ID:1642581 12406382 PTGDS prostaglandin D2 synthase gene DOID:9352 type 2 diabetes mellitus ISO RGD:3433 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:16384826|REF_RGD_ID:1642580 12406393 STIP1 stress induced phosphoprotein 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:733337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12406393 STIP1 stress induced phosphoprotein 1 gene DOID:1059 intellectual disability ISO RGD:733337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12406393 STIP1 stress induced phosphoprotein 1 gene DOID:1909 melanoma ISO RGD:733337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12406393 STIP1 stress induced phosphoprotein 1 gene DOID:3070 high grade glioma ISO RGD:733337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12406393 STIP1 stress induced phosphoprotein 1 gene DOID:630 genetic disease ISO RGD:733337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406393 STIP1 stress induced phosphoprotein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733337 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33766539 12406411 COPE COPI coat complex subunit epsilon gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1315598 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 12406411 COPE COPI coat complex subunit epsilon gene DOID:630 genetic disease ISO RGD:1315598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406411 COPE COPI coat complex subunit epsilon gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1315598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12406426 ELF1 E74 like ETS transcription factor 1 gene DOID:0080600 COVID-19 ISO RGD:734281 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12406426 ELF1 E74 like ETS transcription factor 1 gene DOID:630 genetic disease ISO RGD:734281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406449 SEC23B SEC23 homolog B, COPII coat complex component gene DOID:0080600 COVID-19 ISO RGD:1321756 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12406449 SEC23B SEC23 homolog B, COPII coat complex component gene DOID:0081003 Cowden syndrome 7 ISO RGD:1321756 D RGD:7240710 20190315 OMIM 12406449 SEC23B SEC23 homolog B, COPII coat complex component gene DOID:0081003 Cowden syndrome 7 ISO RGD:1321756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cowden syndrome 7 PMID:16199547|PMID:19561605|PMID:19621418|PMID:20015893|PMID:20381388|PMID:22208203|PMID:22428539|PMID:25044164|PMID:25741868|PMID:26522472|PMID:28492532 12406449 SEC23B SEC23 homolog B, COPII coat complex component gene DOID:0111401 congenital dyserythropoietic anemia type II ISO RGD:1321756 D RGD:7240710 20191009 OMIM 12406449 SEC23B SEC23 homolog B, COPII coat complex component gene DOID:0111401 congenital dyserythropoietic anemia type II ISO RGD:1321756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II | ClinVar Annotator: match by term: HEMPAS anemia PMID:16199547|PMID:17576681|PMID:19561605|PMID:19621418|PMID:20015893|PMID:20381388|PMID:20941788|PMID:21252497|PMID:21850656|PMID:22208203|PMID:22428539|PMID:23453696|PMID:25044164|PMID:25741868|PMID:26522472|PMID:27471141|PMID:28492532|PMID:29031773|PMID:29846281|PMID:29901818|PMID:32581362|PMID:32641076|PMID:33159567|PMID:34093240|PMID:34201899|PMID:9536098 12406449 SEC23B SEC23 homolog B, COPII coat complex component gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1321756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia PMID:24033266|PMID:25741868 12406449 SEC23B SEC23 homolog B, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1321756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12406483 RNF207 ring finger protein 207 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603826 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12406483 RNF207 ring finger protein 207 gene DOID:2843 long QT syndrome ISO RGD:1603826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868 12406483 RNF207 ring finger protein 207 gene DOID:630 genetic disease ISO RGD:1603826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406483 RNF207 ring finger protein 207 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12406483 RNF207 ring finger protein 207 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1603826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 12406506 RNPS1 RNA binding protein with serine rich domain 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1316766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 12406506 RNPS1 RNA binding protein with serine rich domain 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1316766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12406506 RNPS1 RNA binding protein with serine rich domain 1 gene DOID:1826 epilepsy ISO RGD:1316766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12406506 RNPS1 RNA binding protein with serine rich domain 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1316766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12406506 RNPS1 RNA binding protein with serine rich domain 1 gene DOID:2871 endometrial carcinoma ISO RGD:1316766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 12406506 RNPS1 RNA binding protein with serine rich domain 1 gene DOID:630 genetic disease ISO RGD:1316766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406537 DBF4B DBF4 zinc finger B gene DOID:630 genetic disease ISO RGD:1604789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406556 ASB12 ankyrin repeat and SOCS box containing 12 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12406556 ASB12 ankyrin repeat and SOCS box containing 12 gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1349928 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:25741868|PMID:9383023 12406556 ASB12 ankyrin repeat and SOCS box containing 12 gene DOID:0080215 developmental and epileptic encephalopathy 8 ISO RGD:1349928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 PMID:28492532 12406556 ASB12 ankyrin repeat and SOCS box containing 12 gene DOID:12849 autistic disorder ISO RGD:1349928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12406556 ASB12 ankyrin repeat and SOCS box containing 12 gene DOID:630 genetic disease ISO RGD:1349928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406566 MRPL38 mitochondrial ribosomal protein L38 gene DOID:630 genetic disease ISO RGD:1322502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406587 SCTR secretin receptor gene DOID:630 genetic disease ISO RGD:736213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406587 SCTR secretin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:736213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 12406603 GP6 glycoprotein VI platelet gene DOID:0111057 platelet-type bleeding disorder 11 ISO RGD:1343427 D RGD:7240710 20180130 OMIM 12406603 GP6 glycoprotein VI platelet gene DOID:0111057 platelet-type bleeding disorder 11 ISO RGD:1343427 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 11 PMID:19549989|PMID:19552682|PMID:23815599|PMID:25741868|PMID:28492532|PMID:29232918|PMID:32935436 12406603 GP6 glycoprotein VI platelet gene DOID:2213 hemorrhagic disease ISO RGD:1343427 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:19549989|PMID:23815599|PMID:25741868|PMID:28492532|PMID:29232918|PMID:31064749|PMID:32935436 12406603 GP6 glycoprotein VI platelet gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:1618116 D RGD:9068941 20200609 RGD PMID:20651232|REF_RGD_ID:7242710 12406603 GP6 glycoprotein VI platelet gene DOID:630 genetic disease ISO RGD:1343427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12406632 MAPKAPK3 MAPK activated protein kinase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12406632 MAPKAPK3 MAPK activated protein kinase 3 gene DOID:0060863 patterned macular dystrophy ISO RGD:1312732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12406632 MAPKAPK3 MAPK activated protein kinase 3 gene DOID:0060865 patterned macular dystrophy 3 ISO RGD:1312732 D RGD:7240710 20190315 OMIM 12406632 MAPKAPK3 MAPK activated protein kinase 3 gene DOID:0060865 patterned macular dystrophy 3 ISO RGD:1312732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Patterned macular dystrophy 3 PMID:26744326 12406632 MAPKAPK3 MAPK activated protein kinase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12406632 MAPKAPK3 MAPK activated protein kinase 3 gene DOID:12365 malaria ISO RGD:1312732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malaria, susceptibility to PMID:20484391 12406632 MAPKAPK3 MAPK activated protein kinase 3 gene DOID:399 tuberculosis ISO RGD:1312732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberculosis, susceptibility to PMID:20484391 12406632 MAPKAPK3 MAPK activated protein kinase 3 gene DOID:630 genetic disease ISO RGD:1312732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12406632 MAPKAPK3 MAPK activated protein kinase 3 gene DOID:9005036 Bacteremia ISO RGD:1312732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bacteremia, susceptibility to, 2 PMID:20484391 12406646 PROSER1 proline and serine rich 1 gene DOID:630 genetic disease ISO RGD:1319730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406667 NUGGC nuclear GTPase, germinal center associated gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1626574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12406667 NUGGC nuclear GTPase, germinal center associated gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1626574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 12406667 NUGGC nuclear GTPase, germinal center associated gene DOID:630 genetic disease ISO RGD:1626574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406689 DBX2 developing brain homeobox 2 gene DOID:630 genetic disease ISO RGD:1605171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406696 RAP1GAP RAP1 GTPase activating protein gene DOID:0050908 myelodysplastic syndrome ISO RGD:1320507 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow, mononuclear cells (human) PMID:18551404|REF_RGD_ID:9835346 12406696 RAP1GAP RAP1 GTPase activating protein gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1320507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22614916 12406696 RAP1GAP RAP1 GTPase activating protein gene DOID:0060369 Parkinson's disease 6 ISO RGD:1320507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12406696 RAP1GAP RAP1 GTPase activating protein gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1320507 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12406696 RAP1GAP RAP1 GTPase activating protein gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1320507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12406696 RAP1GAP RAP1 GTPase activating protein gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1320507 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (human) PMID:24642466|REF_RGD_ID:9835343 12406696 RAP1GAP RAP1 GTPase activating protein gene DOID:1793 pancreatic cancer ISO RGD:1320507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22614916 12406696 RAP1GAP RAP1 GTPase activating protein gene DOID:1793 pancreatic cancer ISO RGD:1320507 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreas (human) PMID:16424023|REF_RGD_ID:9835037 12406696 RAP1GAP RAP1 GTPase activating protein gene DOID:1909 melanoma ISO RGD:1320507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19147557|PMID:22614916 12406696 RAP1GAP RAP1 GTPase activating protein gene DOID:1909 melanoma ISO RGD:1320507 D RGD:9068941 20200609 RGD protein:decreased expression:epidermal melanocyte (human) PMID:19147557|REF_RGD_ID:9835344 12406696 RAP1GAP RAP1 GTPase activating protein gene DOID:3312 bipolar disorder ISO RGD:1320507 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:dorsolateral prefrontal cortex (human) PMID:16687443|REF_RGD_ID:5490162 12406696 RAP1GAP RAP1 GTPase activating protein gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1320507 D RGD:9068941 20200609 RGD protein:decreased expression:thyroid gland (human) PMID:19066305|REF_RGD_ID:9835342 12406696 RAP1GAP RAP1 GTPase activating protein gene DOID:630 genetic disease ISO RGD:1320507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406696 RAP1GAP RAP1 GTPase activating protein gene DOID:9000918 Disease Progression ISO RGD:1320507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22614916 12406696 RAP1GAP RAP1 GTPase activating protein gene DOID:9004547 Thyroid Neoplasms ISO RGD:1320507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22614916 12406696 RAP1GAP RAP1 GTPase activating protein gene DOID:9004547 Thyroid Neoplasms ISO RGD:1320507 D RGD:9068941 20200609 RGD protein:decreased expression:thyroid gland (human) PMID:17646383|REF_RGD_ID:9835038 12406696 RAP1GAP RAP1 GTPase activating protein gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1320507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12406715 ITGA4 integrin subunit alpha 4 gene DOID:0050572 cone-rod dystrophy ISO RGD:1348031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868|PMID:28492532 12406715 ITGA4 integrin subunit alpha 4 gene DOID:0050589 inflammatory bowel disease ISO RGD:1348031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28067908 12406715 ITGA4 integrin subunit alpha 4 gene DOID:0060041 autism spectrum disorder susceptibility ISO RGD:1348031 D RGD:9068941 20200609 RGD DNA:SNP,haplotypes:intron:rs155100(human) PMID:19259978|REF_RGD_ID:13593533 12406715 ITGA4 integrin subunit alpha 4 gene DOID:0110368 retinitis pigmentosa 26 ISO RGD:1348031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 26 PMID:25741868|PMID:28492532|PMID:29555955 12406715 ITGA4 integrin subunit alpha 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1348031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28041643|PMID:28492532 12406715 ITGA4 integrin subunit alpha 4 gene DOID:10591 pre-eclampsia ISO RGD:1593249 D RGD:9068941 20200609 RGD protein:increased expression:blood, granulocyte (rat) PMID:10694336|REF_RGD_ID:9698441 12406715 ITGA4 integrin subunit alpha 4 gene DOID:10952 nephritis treatment ISO RGD:1593249 D RGD:9068941 20200609 RGD PMID:9773789|REF_RGD_ID:9698422 12406715 ITGA4 integrin subunit alpha 4 gene DOID:12849 autistic disorder ISO RGD:1348031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18348195 12406715 ITGA4 integrin subunit alpha 4 gene DOID:1793 pancreatic cancer ISO RGD:1348031 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 12406715 ITGA4 integrin subunit alpha 4 gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:1593249 D RGD:9068941 20200609 RGD PMID:7679412|PMID:9032136|REF_RGD_ID:2308810|REF_RGD_ID:9698425 12406715 ITGA4 integrin subunit alpha 4 gene DOID:552 pneumonia treatment ISO RGD:1593249 D RGD:9068941 20200609 RGD PMID:8703473|REF_RGD_ID:9698424 12406715 ITGA4 integrin subunit alpha 4 gene DOID:630 genetic disease ISO RGD:1348031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12406715 ITGA4 integrin subunit alpha 4 gene DOID:8501 fundus dystrophy ISO RGD:1348031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 12406715 ITGA4 integrin subunit alpha 4 gene DOID:8947 diabetic retinopathy treatment ISO RGD:1593249 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19553613|REF_RGD_ID:9698417 12406715 ITGA4 integrin subunit alpha 4 gene DOID:9000099 Experimental Colitis ISO RGD:1593249 D RGD:9068941 20200609 RGD protein:increased expression:colon (rat) PMID:12183646|REF_RGD_ID:729408 12406715 ITGA4 integrin subunit alpha 4 gene DOID:9001039 Leukocytosis ISO RGD:1593249 D RGD:9068941 20200609 RGD PMID:12626659|REF_RGD_ID:9698418 12406715 ITGA4 integrin subunit alpha 4 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1348031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21093051 12406715 ITGA4 integrin subunit alpha 4 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1593249 D RGD:9068941 20200609 RGD PMID:12969328|REF_RGD_ID:9698440 12406715 ITGA4 integrin subunit alpha 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis susceptibility ISO RGD:1593249 D RGD:9068941 20200609 RGD rat bone marrow cells in a mouse model PMID:18722022|REF_RGD_ID:9698436 12406715 ITGA4 integrin subunit alpha 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1593249 D RGD:9068941 20200609 RGD PMID:12626659|REF_RGD_ID:9698418 12406715 ITGA4 integrin subunit alpha 4 gene DOID:9004283 Transplant Rejection treatment ISO RGD:1558454 D RGD:9068941 20200609 RGD PMID:9721793|REF_RGD_ID:9698437 12406715 ITGA4 integrin subunit alpha 4 gene DOID:9004484 Sepsis ISO RGD:1348031 D RGD:9068941 20200609 RGD protein:increased expression:neutrophil PMID:19011162|REF_RGD_ID:13593535 12406715 ITGA4 integrin subunit alpha 4 gene DOID:9007402 Gliosis ISO RGD:1348031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12851778 12406715 ITGA4 integrin subunit alpha 4 gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:1558454 D RGD:9068941 20200609 RGD PMID:7528925|REF_RGD_ID:13593534 12406747 DNAH7 dynein axonemal heavy chain 7 gene DOID:0060041 autism spectrum disorder ISO RGD:1317528 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12406747 DNAH7 dynein axonemal heavy chain 7 gene DOID:12849 autistic disorder ISO RGD:1317528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12406747 DNAH7 dynein axonemal heavy chain 7 gene DOID:1826 epilepsy ISO RGD:1317528 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12406747 DNAH7 dynein axonemal heavy chain 7 gene DOID:630 genetic disease ISO RGD:1317528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406747 DNAH7 dynein axonemal heavy chain 7 gene DOID:9003633 Primary Ciliary Dyskinesia 50 ISO RGD:1317528 D RGD:7240710 20230505 OMIM 12406747 DNAH7 dynein axonemal heavy chain 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12406747 DNAH7 dynein axonemal heavy chain 7 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317528 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12406822 TMC3 transmembrane channel like 3 gene DOID:2717 Bloom syndrome ISO RGD:1352795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12406822 TMC3 transmembrane channel like 3 gene DOID:630 genetic disease ISO RGD:1352795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406822 TMC3 transmembrane channel like 3 gene DOID:9256 colorectal cancer ISO RGD:1352795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12406847 TBCEL tubulin folding cofactor E like gene DOID:0060017 CD3epsilon deficiency ISO RGD:1606678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12406847 TBCEL tubulin folding cofactor E like gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1606678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12406847 TBCEL tubulin folding cofactor E like gene DOID:0080690 RASopathy ISO RGD:1606678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12406847 TBCEL tubulin folding cofactor E like gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1606678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12406847 TBCEL tubulin folding cofactor E like gene DOID:0111971 immunodeficiency 18 ISO RGD:1606678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12406847 TBCEL tubulin folding cofactor E like gene DOID:0111972 immunodeficiency 19 ISO RGD:1606678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12406847 TBCEL tubulin folding cofactor E like gene DOID:0111973 immunodeficiency 17 ISO RGD:1606678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12406847 TBCEL tubulin folding cofactor E like gene DOID:5419 schizophrenia ISO RGD:1606678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12406847 TBCEL tubulin folding cofactor E like gene DOID:630 genetic disease ISO RGD:1606678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406847 TBCEL tubulin folding cofactor E like gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12406847 TBCEL tubulin folding cofactor E like gene DOID:9007661 Dwarfism ISO RGD:1606678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12406869 NPL N-acetylneuraminate pyruvate lyase gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1348386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12406869 NPL N-acetylneuraminate pyruvate lyase gene DOID:13580 cholestasis ISO RGD:1348386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12406869 NPL N-acetylneuraminate pyruvate lyase gene DOID:1540 parathyroid carcinoma ISO RGD:1348386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12406869 NPL N-acetylneuraminate pyruvate lyase gene DOID:630 genetic disease ISO RGD:1348386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406869 NPL N-acetylneuraminate pyruvate lyase gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1348386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12406869 NPL N-acetylneuraminate pyruvate lyase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12406892 FNTB farnesyltransferase, CAAX box, beta gene DOID:630 genetic disease ISO RGD:736901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406892 FNTB farnesyltransferase, CAAX box, beta gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736901 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 12406908 POLB DNA polymerase beta gene DOID:0090039 torsion dystonia 6 ISO RGD:736608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 12406908 POLB DNA polymerase beta gene DOID:0111959 immunodeficiency 15B ISO RGD:736608 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 12406908 POLB DNA polymerase beta gene DOID:11054 urinary bladder cancer ISO RGD:736608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8631603 12406908 POLB DNA polymerase beta gene DOID:1793 pancreatic cancer disease_progression ISO RGD:736608 D RGD:9068941 20200609 RGD DNA:polymorphisms: :165A>G, 2133T>C (human) PMID:17230526|REF_RGD_ID:2317132 12406908 POLB DNA polymerase beta gene DOID:630 genetic disease ISO RGD:736608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406908 POLB DNA polymerase beta gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:736608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18006695 12406908 POLB DNA polymerase beta gene DOID:9002928 Colonic Neoplasms ISO RGD:736608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25030372 12406908 POLB DNA polymerase beta gene DOID:9004009 Reperfusion Injury ISO RGD:3363 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:17412650|REF_RGD_ID:2302580 12406908 POLB DNA polymerase beta gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:736608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 12406908 POLB DNA polymerase beta gene DOID:9074 systemic lupus erythematosus ISO RGD:736609 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12406933 VKORC1L1 vitamin K epoxide reductase complex subunit 1 like 1 gene DOID:10283 prostate cancer ISO RGD:1353419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12406933 VKORC1L1 vitamin K epoxide reductase complex subunit 1 like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12406933 VKORC1L1 vitamin K epoxide reductase complex subunit 1 like 1 gene DOID:630 genetic disease ISO RGD:1353419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406953 TMEM252 transmembrane protein 252 gene DOID:630 genetic disease ISO RGD:1353835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406963 C9H17orf50 chromosome 9 C17orf50 homolog gene DOID:630 genetic disease ISO RGD:1603574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12406968 GNAI3 G protein subunit alpha i3 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:731003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12406968 GNAI3 G protein subunit alpha i3 gene DOID:10763 hypertension treatment ISO RGD:2714 D RGD:9068941 20200609 RGD PMID:15106810|REF_RGD_ID:13508592 12406968 GNAI3 G protein subunit alpha i3 gene DOID:10914 amnestic disorder ISO RGD:731003 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11350863 12406968 GNAI3 G protein subunit alpha i3 gene DOID:12849 autistic disorder ISO RGD:731003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12406968 GNAI3 G protein subunit alpha i3 gene DOID:630 genetic disease ISO RGD:731003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12406968 GNAI3 G protein subunit alpha i3 gene DOID:9000208 Auriculocondylar Syndrome ISO RGD:731003 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12406968 GNAI3 G protein subunit alpha i3 gene DOID:9002492 Auriculocondylar Syndrome 1 ISO RGD:731003 D RGD:7240710 20180130 OMIM 12406968 GNAI3 G protein subunit alpha i3 gene DOID:9002492 Auriculocondylar Syndrome 1 ISO RGD:731003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Auriculocondylar syndrome 1 PMID:11102934|PMID:22560091|PMID:23315542|PMID:25026904|PMID:25741868 12406968 GNAI3 G protein subunit alpha i3 gene DOID:9004009 Reperfusion Injury ISO RGD:2714 D RGD:9068941 20200609 RGD PMID:11367746|REF_RGD_ID:13513922 12406981 SH3GLB1 SH3 domain containing GRB2 like, endophilin B1 gene DOID:630 genetic disease ISO RGD:1312539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407006 LOC612553 membrane-spanning 4-domains subfamily A member 6D gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12407006 LOC612553 membrane-spanning 4-domains subfamily A member 6D gene DOID:1059 intellectual disability ISO RGD:1323386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12407006 LOC612553 membrane-spanning 4-domains subfamily A member 6D gene DOID:2986 IgA glomerulonephritis ISO RGD:1323386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 12407006 LOC612553 membrane-spanning 4-domains subfamily A member 6D gene DOID:630 genetic disease ISO RGD:1323386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407006 LOC612553 membrane-spanning 4-domains subfamily A member 6D gene DOID:9775 diastolic heart failure ISO RGD:1323386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12407016 NPR3 natriuretic peptide receptor 3 gene DOID:0080001 bone disease ISO RGD:11008 D RGD:9068941 20220825 MouseDO 12407016 NPR3 natriuretic peptide receptor 3 gene DOID:10763 hypertension ISO RGD:731641 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-55C>A (human) PMID:12872042|REF_RGD_ID:1580175 12407016 NPR3 natriuretic peptide receptor 3 gene DOID:17 musculoskeletal system disease ISO RGD:11008 D RGD:9068941 20200609 RGD DNA:deletion, missense mutation, nonsense mutation:cds:c.195_232del, c.283C>T, c.502C>A (mouse) PMID:10468599|REF_RGD_ID:1580774 12407016 NPR3 natriuretic peptide receptor 3 gene DOID:630 genetic disease ISO RGD:731641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12407016 NPR3 natriuretic peptide receptor 3 gene DOID:8947 diabetic retinopathy ISO RGD:3196 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina (rat) PMID:15789000|REF_RGD_ID:1580773 12407016 NPR3 natriuretic peptide receptor 3 gene DOID:9002060 BOUDIN-MORTIER SYNDROME ISO RGD:731641 D RGD:7240710 20211020 OMIM 12407016 NPR3 natriuretic peptide receptor 3 gene DOID:9002060 BOUDIN-MORTIER SYNDROME ISO RGD:731641 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Boudin-Mortier syndrome PMID:24559625|PMID:25741868|PMID:30032985 12407016 NPR3 natriuretic peptide receptor 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731641 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 12407016 NPR3 natriuretic peptide receptor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12407016 NPR3 natriuretic peptide receptor 3 gene DOID:9004657 Weight Gain ISO RGD:731641 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12407016 NPR3 natriuretic peptide receptor 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3196 D RGD:9068941 20200609 RGD PMID:15337698|REF_RGD_ID:1580149 12407039 MANF mesencephalic astrocyte derived neurotrophic factor gene DOID:0080855 Parkinsonism ISO RGD:1316336 D RGD:9068941 20200609 RGD PMID:19641128|REF_RGD_ID:2325813 12407039 MANF mesencephalic astrocyte derived neurotrophic factor gene DOID:1612 breast cancer susceptibility ISO RGD:1316336 D RGD:9068941 20200609 RGD PMID:8971156|REF_RGD_ID:1599219 12407039 MANF mesencephalic astrocyte derived neurotrophic factor gene DOID:1749 squamous cell carcinoma susceptibility ISO RGD:1316336 D RGD:9068941 20200609 RGD PMID:8971156|REF_RGD_ID:1599219 12407039 MANF mesencephalic astrocyte derived neurotrophic factor gene DOID:1793 pancreatic cancer ISO RGD:1316336 D RGD:9068941 20200609 RGD DNA:point mutations, deletions:cds:multiple (human) PMID:9174057|REF_RGD_ID:2325804 12407039 MANF mesencephalic astrocyte derived neurotrophic factor gene DOID:1793 pancreatic cancer no_association ISO RGD:1316336 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:17072959|REF_RGD_ID:2317157 12407039 MANF mesencephalic astrocyte derived neurotrophic factor gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1316336 D RGD:9068941 20200609 RGD PMID:8971156|REF_RGD_ID:1599219 12407039 MANF mesencephalic astrocyte derived neurotrophic factor gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:1316336 D RGD:9068941 20200609 RGD PMID:8649854|REF_RGD_ID:1599220 12407039 MANF mesencephalic astrocyte derived neurotrophic factor gene DOID:630 genetic disease ISO RGD:1316336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407039 MANF mesencephalic astrocyte derived neurotrophic factor gene DOID:9002304 Prostatic Neoplasms susceptibility ISO RGD:1316336 D RGD:9068941 20200609 RGD PMID:8971156|REF_RGD_ID:1599219 12407039 MANF mesencephalic astrocyte derived neurotrophic factor gene DOID:9004009 Reperfusion Injury ISO RGD:1307252 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19773801|REF_RGD_ID:2325809 12407047 MIR196A-2 microRNA mir-196a-2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1353191 D RGD:9068941 20200609 RGD DNA:SNP: : (rs11614913) PMID:21692953|REF_RGD_ID:14401595 12407047 MIR196A-2 microRNA mir-196a-2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1353191 D RGD:9068941 20200609 RGD associated with hepatitis B, chronic; DNA:SNP: : (rs12304647) PMID:24248733|REF_RGD_ID:14401594 12407047 MIR196A-2 microRNA mir-196a-2 gene DOID:9000918 Disease Progression ISO RGD:2314888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27816459 12407047 MIR196A-2 microRNA mir-196a-2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12407047 MIR196A-2 microRNA mir-196a-2 gene DOID:9074 systemic lupus erythematosus ISO RGD:2314888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27816459 12407047 MIR196A-2 microRNA mir-196a-2 gene DOID:9206 Barrett's esophagus ISO RGD:1353191 D RGD:9068941 20220825 RGD miRNA:increased expression:esophagus (human) PMID:29906417|REF_RGD_ID:153344526 12407064 GDF7 growth differentiation factor 7 gene DOID:630 genetic disease ISO RGD:1322500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407084 PRR30 proline rich 30 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1602815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12407084 PRR30 proline rich 30 gene DOID:630 genetic disease ISO RGD:1602815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407110 PIGV phosphatidylinositol glycan anchor biosynthesis class V gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1349310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12407110 PIGV phosphatidylinositol glycan anchor biosynthesis class V gene DOID:630 genetic disease ISO RGD:1349310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1724113|PMID:20578257|PMID:20802478|PMID:21739589|PMID:22228761|PMID:22315194|PMID:24033266|PMID:24129430|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28688840|PMID:28817240 12407110 PIGV phosphatidylinositol glycan anchor biosynthesis class V gene DOID:9002100 Hyperphosphatasia with Mental Retardation Syndrome 1 ISO RGD:1349310 D RGD:7240710 20180130 OMIM 12407110 PIGV phosphatidylinositol glycan anchor biosynthesis class V gene DOID:9002100 Hyperphosphatasia with Mental Retardation Syndrome 1 ISO RGD:1349310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 PMID:1724113|PMID:17351347|PMID:20578257|PMID:20802478|PMID:21739589|PMID:22228761|PMID:22315194|PMID:24033266|PMID:24129430|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28688840 12407110 PIGV phosphatidylinositol glycan anchor biosynthesis class V gene DOID:9005046 Hyperphosphatasia with Impaired Intellectual Development Syndrome ISO RGD:1349310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome PMID:1724113|PMID:20578257|PMID:20802478|PMID:21739589|PMID:22228761|PMID:22315194|PMID:24033266|PMID:24129430|PMID:25741868|PMID:28492532|PMID:28688840 12407110 PIGV phosphatidylinositol glycan anchor biosynthesis class V gene DOID:9005421 Paget Disease of Bone 5, Juvenile-Onset ISO RGD:1349310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Elevated alkaline phosphatase PMID:28492532 12407155 COL4A4 collagen type IV alpha 4 chain gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1313332 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:11134255|PMID:11685592|PMID:11961012|PMID:12028435|PMID:12631110|PMID:14871398|PMID:17216251|PMID:17396119|PMID:19129241|PMID:20029656|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:27884173|PMID:28059119|PMID:28492532|PMID:9792860 12407155 COL4A4 collagen type IV alpha 4 chain gene DOID:0080322 polycystic kidney disease ISO RGD:1313332 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:31922066 12407155 COL4A4 collagen type IV alpha 4 chain gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1313332 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:25741868|PMID:28492532 12407155 COL4A4 collagen type IV alpha 4 chain gene DOID:0110032 autosomal dominant Alport syndrome ISO RGD:1313332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome PMID:11961012|PMID:12631110|PMID:12748344|PMID:15618242|PMID:15954103|PMID:16199547|PMID:17216251|PMID:17576681|PMID:19129241|PMID:20301386|PMID:21196518|PMID:21897443|PMID:24033266|PMID:24052634|PMID:24633401|PMID:24854265|PMID:25307543|PMID:25525159|PMID:25596306|PMID:25741868|PMID:26467025|PMID:26809805|PMID:27859054|PMID:28492532|PMID:28632965|PMID:28844315|PMID:29801666|PMID:29854973|PMID:30745910|PMID:31312213|PMID:31934206|PMID:33369211|PMID:33532864|PMID:33772369|PMID:9536098|PMID:9792860 12407155 COL4A4 collagen type IV alpha 4 chain gene DOID:0110033 autosomal recessive Alport syndrome ISO RGD:1313332 D RGD:7240710 20180130 OMIM 12407155 COL4A4 collagen type IV alpha 4 chain gene DOID:0110033 autosomal recessive Alport syndrome ISO RGD:1313332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome PMID:11961012|PMID:12028435|PMID:12325029|PMID:12631110|PMID:12748344|PMID:14582039|PMID:15618242|PMID:15954103|PMID:16199547|PMID:16338941|PMID:17216251|PMID:17396119|PMID:17576681|PMID:19129241|PMID:19675380|PMID:20029656|PMID:20301386|PMID:21196518|PMID:21897443|PMID:22887978|PMID:23349334|PMID:23967202|PMID:24033266|PMID:24033287|PMID:24052634|PMID:24472419|PMID:24522496|PMID:24633401|PMID:24854265|PMID:25229338|PMID:25307543|PMID:25381091|PMID:25514610|PMID:25525159|PMID:25596306|PMID:25741868|PMID:25755845|PMID:26467025|PMID:26628290|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27469977|PMID:27859054|PMID:28117080|PMID:28476686|PMID:28492532|PMID:28542346|PMID:28632965|PMID:28844315|PMID:28968992|PMID:29098738|PMID:29204651|PMID:29496980|PMID:29801666|PMID:29854973|PMID:29873249|PMID:30406062|PMID:30647093|PMID:30745910|PMID:30883042|PMID:30968591|PMID:31049720|PMID:31312213|PMID:31408864|PMID:31677115|PMID:31922066|PMID:32332277|PMID:32703181|PMID:32723786|PMID:32939031|PMID:33048202|PMID:33369211|PMID:33532864|PMID:33772369|PMID:33838161|PMID:33854215|PMID:34584596|PMID:34625929|PMID:34746741|PMID:35369551|PMID:7987396|PMID:8787673|PMID:9195222|PMID:9536098|PMID:9792860 12407155 COL4A4 collagen type IV alpha 4 chain gene DOID:0110034 X-linked Alport syndrome ISO RGD:1313332 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome PMID:12028435|PMID:17396119|PMID:19129241|PMID:19675380|PMID:20029656|PMID:24033266|PMID:25514610|PMID:25741868|PMID:25755845|PMID:26467025|PMID:28492532 12407155 COL4A4 collagen type IV alpha 4 chain gene DOID:0110588 autosomal dominant nonsyndromic deafness 67 ISO RGD:1313332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 67 PMID:25741868 12407155 COL4A4 collagen type IV alpha 4 chain gene DOID:0111365 benign familial hematuria ISO RGD:1313332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Benign familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria | ClinVar Annotator: match by term: Thin basement membrane nephropathy PMID:11961012|PMID:12325029|PMID:12631110|PMID:14582039|PMID:16199547|PMID:16338941|PMID:17216251|PMID:17396119|PMID:17576681|PMID:21196518|PMID:24033266|PMID:24033287|PMID:24052634|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:28476686|PMID:28492532|PMID:28632965|PMID:28844315|PMID:29496980|PMID:29801666|PMID:29854973|PMID:30295827|PMID:30968591|PMID:31686460|PMID:31934206|PMID:32332277|PMID:32703181|PMID:32939031|PMID:33048202|PMID:33369211|PMID:33532864|PMID:33772369|PMID:33838161|PMID:34584596|PMID:8787673|PMID:9536098|PMID:9792860 12407155 COL4A4 collagen type IV alpha 4 chain gene DOID:10983 Alport syndrome ISO RGD:1313332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria | ClinVar Annotator: match by term: Disease of glomerular basement membrane PMID:11134255|PMID:11685592|PMID:11961012|PMID:12028435|PMID:12325029|PMID:12631110|PMID:14582039|PMID:14871398|PMID:15618242|PMID:15880327|PMID:16199547|PMID:1721625|PMID:17216251|PMID:17396119|PMID:17576681|PMID:19129241|PMID:19675380|PMID:20029656|PMID:21196518|PMID:22887978|PMID:23349334|PMID:23967202|PMID:24033266|PMID:24033287|PMID:24052634|PMID:24130771|PMID:24472419|PMID:24522496|PMID:24854265|PMID:25229338|PMID:25307543|PMID:25381091|PMID:25514610|PMID:25575550|PMID:25741868|PMID:25755845|PMID:26467025|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27365461|PMID:27884173|PMID:28059119|PMID:28476686|PMID:28492532|PMID:28632965|PMID:28780565|PMID:28844315|PMID:28968992|PMID:29098738|PMID:29496980|PMID:29924831|PMID:30406062|PMID:30647093|PMID:30745910|PMID:30968591|PMID:31049720|PMID:31408864|PMID:31922066|PMID:32332277|PMID:32703181|PMID:32939031|PMID:33048202|PMID:33532864|PMID:33772369|PMID:33838161|PMID:34584596|PMID:9536098|PMID:9792860 12407155 COL4A4 collagen type IV alpha 4 chain gene DOID:1184 nephrotic syndrome ISO RGD:1313332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:21196518|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33532864 12407155 COL4A4 collagen type IV alpha 4 chain gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1313332 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:12028435|PMID:15618242|PMID:17396119|PMID:19129241|PMID:20029656|PMID:21196518|PMID:24033266|PMID:24052634|PMID:24522496|PMID:24854265|PMID:25307543|PMID:25514610|PMID:25741868|PMID:26467025|PMID:26809805|PMID:27281700|PMID:28492532|PMID:31049720|PMID:31922066 12407155 COL4A4 collagen type IV alpha 4 chain gene DOID:2921 glomerulonephritis ISO RGD:1313332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Glomerulonephritis PMID:12325029|PMID:17216251|PMID:21196518|PMID:24052634|PMID:24854265|PMID:25307543|PMID:25741868|PMID:28492532 12407155 COL4A4 collagen type IV alpha 4 chain gene DOID:557 kidney disease ISO RGD:1313332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:14582039|PMID:1721625|PMID:17216251|PMID:17396119|PMID:22887978|PMID:24033266|PMID:25381091|PMID:25741868|PMID:26467025|PMID:27365461|PMID:28476686|PMID:28492532|PMID:29924831|PMID:30968591|PMID:32332277|PMID:32703181|PMID:33772369|PMID:9792860 12407155 COL4A4 collagen type IV alpha 4 chain gene DOID:630 genetic disease ISO RGD:1313332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 12407155 COL4A4 collagen type IV alpha 4 chain gene DOID:783 end stage renal disease ISO RGD:1313332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stage 5 chronic kidney disease PMID:24033266|PMID:25741868|PMID:28492532 12407155 COL4A4 collagen type IV alpha 4 chain gene DOID:784 chronic kidney disease ISO RGD:1313332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:12325029|PMID:21196518|PMID:24052634|PMID:24854265|PMID:25307543|PMID:25741868|PMID:28492532|PMID:32723786 12407155 COL4A4 collagen type IV alpha 4 chain gene DOID:9000363 Hematuria ISO RGD:1313332 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hematuria PMID:24052634|PMID:24854265|PMID:25741868|PMID:26809805|PMID:28492532|PMID:28844315|PMID:33772369 12407155 COL4A4 collagen type IV alpha 4 chain gene DOID:9004538 Hearing Loss ISO RGD:1313332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:17396119|PMID:24033287|PMID:24854265|PMID:25741868|PMID:26934356|PMID:28492532|PMID:28632965|PMID:29496980|PMID:30311386|PMID:33048202|PMID:33532864|PMID:33838161|PMID:34584596 12407155 COL4A4 collagen type IV alpha 4 chain gene DOID:9006352 Benign Familial Hematuria 1 ISO RGD:1313332 D RGD:7240710 20230505 OMIM 12407155 COL4A4 collagen type IV alpha 4 chain gene DOID:9006352 Benign Familial Hematuria 1 ISO RGD:1313332 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: HEMATURIA, BENIGN FAMILIAL, 1 PMID:12325029|PMID:12631110|PMID:14582039|PMID:17396119|PMID:21196518|PMID:24033266|PMID:24052634|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26467025|PMID:28476686|PMID:28492532|PMID:30968591|PMID:32332277|PMID:32703181|PMID:9792860 12407155 COL4A4 collagen type IV alpha 4 chain gene DOID:9008897 Diffuse Mesangial Sclerosis ISO RGD:1313332 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Diffuse mesangial sclerosis PMID:25514610|PMID:25741868|PMID:28632965 12407223 PTK2 protein tyrosine kinase 2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:732757 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15564794|REF_RGD_ID:2292561 12407223 PTK2 protein tyrosine kinase 2 gene DOID:0060224 atrial fibrillation ISO RGD:732757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12407223 PTK2 protein tyrosine kinase 2 gene DOID:0080365 endometrial hyperplasia ISO RGD:732757 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:15536334|REF_RGD_ID:2292562 12407223 PTK2 protein tyrosine kinase 2 gene DOID:10283 prostate cancer ISO RGD:732757 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:12242727|REF_RGD_ID:2292570 12407223 PTK2 protein tyrosine kinase 2 gene DOID:10763 hypertension ISO RGD:3443 D RGD:9068941 20200609 RGD PMID:12732587|REF_RGD_ID:729831 12407223 PTK2 protein tyrosine kinase 2 gene DOID:10763 hypertension ISO RGD:3443 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:21068519|REF_RGD_ID:10041072 12407223 PTK2 protein tyrosine kinase 2 gene DOID:10952 nephritis treatment ISO RGD:3443 D RGD:9068941 20200609 RGD PMID:25176084|REF_RGD_ID:10041073 12407223 PTK2 protein tyrosine kinase 2 gene DOID:127 leiomyoma ISO RGD:732757 D RGD:9068941 20200609 RGD PMID:12517589|REF_RGD_ID:2292569 12407223 PTK2 protein tyrosine kinase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:732757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21401805|PMID:25199511 12407223 PTK2 protein tyrosine kinase 2 gene DOID:2871 endometrial carcinoma severity ISO RGD:732757 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:15536334|REF_RGD_ID:2292562 12407223 PTK2 protein tyrosine kinase 2 gene DOID:289 endometriosis ISO RGD:732757 D RGD:9068941 20200609 RGD PMID:17543958|REF_RGD_ID:2292555 12407223 PTK2 protein tyrosine kinase 2 gene DOID:2893 cervix carcinoma ISO RGD:732757 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:cervix PMID:14675348|REF_RGD_ID:2292568 12407223 PTK2 protein tyrosine kinase 2 gene DOID:3068 glioblastoma ISO RGD:732757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12811834 12407223 PTK2 protein tyrosine kinase 2 gene DOID:326 ischemia ISO RGD:3443 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:kidney PMID:17620366|REF_RGD_ID:2292577 12407223 PTK2 protein tyrosine kinase 2 gene DOID:3907 lung squamous cell carcinoma severity ISO RGD:732757 D RGD:9068941 20220512 RGD PMID:23906871|REF_RGD_ID:152176664 12407223 PTK2 protein tyrosine kinase 2 gene DOID:4001 ovarian carcinoma ISO RGD:732757 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:10526262|REF_RGD_ID:2292572 12407223 PTK2 protein tyrosine kinase 2 gene DOID:4001 ovarian carcinoma ISO RGD:732757 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:ovary PMID:15455382|REF_RGD_ID:2292563 12407223 PTK2 protein tyrosine kinase 2 gene DOID:4362 cervical cancer disease_progression ISO RGD:732757 D RGD:9068941 20200609 RGD PMID:16638855|REF_RGD_ID:2292556 12407223 PTK2 protein tyrosine kinase 2 gene DOID:4676 uremia ISO RGD:3443 D RGD:9068941 20200609 RGD protein:increased expression:parathyroid gland PMID:17514628|REF_RGD_ID:2292579 12407223 PTK2 protein tyrosine kinase 2 gene DOID:5409 lung small cell carcinoma ISO RGD:732757 D RGD:9068941 20200609 RGD DNA:CNV:: PMID:20802517|REF_RGD_ID:13825141 12407223 PTK2 protein tyrosine kinase 2 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:732757 D RGD:9068941 20200609 RGD PMID:21800286|REF_RGD_ID:13825133 12407223 PTK2 protein tyrosine kinase 2 gene DOID:630 genetic disease ISO RGD:732757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407223 PTK2 protein tyrosine kinase 2 gene DOID:6432 pulmonary hypertension ISO RGD:732757 D RGD:9068941 20200609 RGD PMID:16244766|REF_RGD_ID:1581290 12407223 PTK2 protein tyrosine kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:3443 D RGD:9068941 20200609 RGD PMID:17203219|REF_RGD_ID:2292584 12407223 PTK2 protein tyrosine kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:732757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14578863 12407223 PTK2 protein tyrosine kinase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:732757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 12407223 PTK2 protein tyrosine kinase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:732757 D RGD:9068941 20220512 RGD associated with lung squamous cell carcinoma; protein:increased tyrosine phosphorylation:lymph node PMID:23906871|REF_RGD_ID:152176664 12407223 PTK2 protein tyrosine kinase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:3443 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:15930288|REF_RGD_ID:2292560 12407223 PTK2 protein tyrosine kinase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732758 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:16547501|REF_RGD_ID:2292557 12407223 PTK2 protein tyrosine kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3443 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:15378782|REF_RGD_ID:2292604 12407223 PTK2 protein tyrosine kinase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:3443 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:kidney PMID:17620366|REF_RGD_ID:2292577 12407223 PTK2 protein tyrosine kinase 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12811834|PMID:25199511 12407223 PTK2 protein tyrosine kinase 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3443 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression, increased serine and tyrosine phosphorylation:ventricle myocardium PMID:12732587|REF_RGD_ID:729831 12407223 PTK2 protein tyrosine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3443 D RGD:9068941 20200609 RGD PMID:15930288|REF_RGD_ID:2292560 12407223 PTK2 protein tyrosine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732757 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24809783 12407223 PTK2 protein tyrosine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:732758 D RGD:9068941 20200609 RGD PMID:18056629|REF_RGD_ID:2292554 12407223 PTK2 protein tyrosine kinase 2 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3443 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary;protein:increased phosphorylation:ventricle myocardium PMID:17913382|REF_RGD_ID:5130174 12407223 PTK2 protein tyrosine kinase 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:732757 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25199511 12407223 PTK2 protein tyrosine kinase 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23804419 12407223 PTK2 protein tyrosine kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732757 D RGD:9068941 20200609 RGD DNA:amplification PMID:16457699|REF_RGD_ID:2292558 12407223 PTK2 protein tyrosine kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732757 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:16136050|REF_RGD_ID:2292559 12407280 EEA1 early endosome antigen 1 gene DOID:630 genetic disease ISO RGD:1320911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407314 TNKS tankyrase gene DOID:630 genetic disease ISO RGD:1343497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407314 TNKS tankyrase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12407345 GET3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:0050990 episodic ataxia type 2 ISO RGD:1317371 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12407345 GET3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1317371 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12407345 GET3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:0111254 glutaric acidemia I ISO RGD:1317371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12407345 GET3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:10283 prostate cancer ISO RGD:1317371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12407345 GET3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:3413 alpha-mannosidosis ISO RGD:1317371 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12407345 GET3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:630 genetic disease ISO RGD:1317371 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407345 GET3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:9008315 Dilated Cardiomyopathy 2H ISO RGD:1317371 D RGD:7240710 20230125 OMIM 12407345 GET3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:9008315 Dilated Cardiomyopathy 2H ISO RGD:1317371 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2H PMID:31461301 12407356 PRCP prolylcarboxypeptidase gene DOID:1059 intellectual disability ISO RGD:1317272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12407356 PRCP prolylcarboxypeptidase gene DOID:630 genetic disease ISO RGD:1317272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407373 PCCA propionyl-CoA carboxylase subunit alpha gene DOID:0110878 holoprosencephaly 5 ISO RGD:736733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 12407373 PCCA propionyl-CoA carboxylase subunit alpha gene DOID:14701 propionic acidemia ISO RGD:736733 D RGD:7240710 20180130 OMIM 12407373 PCCA propionyl-CoA carboxylase subunit alpha gene DOID:14701 propionic acidemia ISO RGD:736733 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:10101253|PMID:10329019|PMID:10518292|PMID:10780784|PMID:11592820|PMID:12385775|PMID:12559849|PMID:14960587|PMID:15059621|PMID:15164333|PMID:15235904|PMID:15464417|PMID:16023992|PMID:16199547|PMID:17051315|PMID:17576681|PMID:18414145|PMID:18790721|PMID:19099776|PMID:19157943|PMID:2037281|PMID:20493181|PMID:20549364|PMID:20725044|PMID:21094621|PMID:22033733|PMID:22156789|PMID:22334403|PMID:22593918|PMID:23053474|PMID:23348723|PMID:23430860|PMID:23757202|PMID:24033266|PMID:24059531|PMID:24464666|PMID:24863100|PMID:25047749|PMID:25636094|PMID:25640679|PMID:25741868|PMID:26740382|PMID:27227689|PMID:27489777|PMID:27825584|PMID:27900673|PMID:28492532|PMID:28712602|PMID:29033250|PMID:29978829|PMID:30159853|PMID:30186825|PMID:30209273|PMID:30274917|PMID:30705822|PMID:31063319|PMID:31249402|PMID:31319225|PMID:31757659|PMID:31828787|PMID:31893529|PMID:31916709|PMID:32252659|PMID:32819290|PMID:33028371|PMID:33473339|PMID:33923806|PMID:6790853|PMID:7915138|PMID:8083196|PMID:9385377|PMID:9536098|PMID:9887338 12407373 PCCA propionyl-CoA carboxylase subunit alpha gene DOID:4621 holoprosencephaly ISO RGD:736733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 12407373 PCCA propionyl-CoA carboxylase subunit alpha gene DOID:630 genetic disease ISO RGD:736733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15164333|PMID:15464417|PMID:16199547|PMID:23430860|PMID:25741868|PMID:27227689|PMID:28492532 12407373 PCCA propionyl-CoA carboxylase subunit alpha gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:736733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12407373 PCCA propionyl-CoA carboxylase subunit alpha gene DOID:9252 amino acid metabolic disorder ISO RGD:736733 D RGD:9068941 20200609 RGD propionic acidemia, OMIM:606054, DNA:deletion:intron:1824delAAGT PMID:9385377|REF_RGD_ID:1600306 12407409 SFSWAP splicing factor SWAP gene DOID:0060041 autism spectrum disorder ISO RGD:1312773 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 12407409 SFSWAP splicing factor SWAP gene DOID:630 genetic disease ISO RGD:1312773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407434 CEP72 centrosomal protein 72 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1603993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 12407434 CEP72 centrosomal protein 72 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1603993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 12407434 CEP72 centrosomal protein 72 gene DOID:630 genetic disease ISO RGD:1603993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407434 CEP72 centrosomal protein 72 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1603993 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 12407464 UQCRC2 ubiquinol-cytochrome c reductase core protein 2 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1352193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12407464 UQCRC2 ubiquinol-cytochrome c reductase core protein 2 gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:1352193 D RGD:7240710 20180130 OMIM 12407464 UQCRC2 ubiquinol-cytochrome c reductase core protein 2 gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:1352193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5 PMID:23281071|PMID:25741868|PMID:28275242|PMID:28492532 12407464 UQCRC2 ubiquinol-cytochrome c reductase core protein 2 gene DOID:0110480 autosomal recessive nonsyndromic deafness 22 ISO RGD:1352193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 22 PMID:25741868|PMID:33492714 12407464 UQCRC2 ubiquinol-cytochrome c reductase core protein 2 gene DOID:12849 autistic disorder ISO RGD:1352193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12407464 UQCRC2 ubiquinol-cytochrome c reductase core protein 2 gene DOID:5419 schizophrenia ISO RGD:1352193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12407464 UQCRC2 ubiquinol-cytochrome c reductase core protein 2 gene DOID:630 genetic disease ISO RGD:1352193 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12407464 UQCRC2 ubiquinol-cytochrome c reductase core protein 2 gene DOID:9970 obesity ISO RGD:1352193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12407482 MYL4 myosin light chain 4 gene DOID:0050650 familial atrial fibrillation ISO RGD:1350723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation PMID:27066836|PMID:28492532|PMID:29080865 12407482 MYL4 myosin light chain 4 gene DOID:0050700 cardiomyopathy ISO RGD:1350723 D RGD:9068941 20210205 RGD human gene in rat model PMID:29080865|REF_RGD_ID:40902867 12407482 MYL4 myosin light chain 4 gene DOID:0050700 cardiomyopathy ISO RGD:1591197 D RGD:9068941 20210205 RGD PMID:29080865|REF_RGD_ID:40902867 12407482 MYL4 myosin light chain 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1350723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9527842 12407482 MYL4 myosin light chain 4 gene DOID:630 genetic disease ISO RGD:1350723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12407482 MYL4 myosin light chain 4 gene DOID:9002195 Atrial Dilation and Standstill susceptibility ISO RGD:1350723 D RGD:9068941 20210205 RGD DNA:missense mutation:cds (c.31G>A, p.E11K) (human) PMID:29080865|REF_RGD_ID:40902867 12407482 MYL4 myosin light chain 4 gene DOID:9005256 Familial Atrial Fibrillation 18 ISO RGD:1350723 D RGD:7240710 20190315 OMIM 12407482 MYL4 myosin light chain 4 gene DOID:9005256 Familial Atrial Fibrillation 18 ISO RGD:1350723 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 18 PMID:16199547|PMID:17576681|PMID:25741868|PMID:25807286|PMID:27066836|PMID:27742809|PMID:28492532|PMID:29080865|PMID:9536098 12407493 BLMH bleomycin hydrolase gene DOID:0111253 neurofibromatosis 1 ISO RGD:1312244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 12407493 BLMH bleomycin hydrolase gene DOID:630 genetic disease ISO RGD:1312244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407509 YIPF3 Yip1 domain family member 3 gene DOID:0050444 infantile Refsum disease ISO RGD:1317816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12407509 YIPF3 Yip1 domain family member 3 gene DOID:4450 renal cell carcinoma ISO RGD:1317816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 12407509 YIPF3 Yip1 domain family member 3 gene DOID:630 genetic disease ISO RGD:1317816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407509 YIPF3 Yip1 domain family member 3 gene DOID:905 Zellweger syndrome ISO RGD:1317816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12407522 TRAPPC11 trafficking protein particle complex subunit 11 gene DOID:0110287 autosomal recessive limb-girdle muscular dystrophy type 2S ISO RGD:1604800 D RGD:7240710 20180130 OMIM 12407522 TRAPPC11 trafficking protein particle complex subunit 11 gene DOID:0110287 autosomal recessive limb-girdle muscular dystrophy type 2S ISO RGD:1604800 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2S | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2S | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 PMID:16199547|PMID:17576681|PMID:23830518|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26322222|PMID:26467025|PMID:26912795|PMID:27707803|PMID:27862579|PMID:28327206|PMID:28482373|PMID:28492532|PMID:29158550|PMID:29855340|PMID:30105108|PMID:31575891|PMID:9536098 12407522 TRAPPC11 trafficking protein particle complex subunit 11 gene DOID:1059 intellectual disability ISO RGD:1604800 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:28492532 12407522 TRAPPC11 trafficking protein particle complex subunit 11 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1604800 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:23830518|PMID:24033266|PMID:26322222|PMID:27707803|PMID:28492532|PMID:30105108 12407522 TRAPPC11 trafficking protein particle complex subunit 11 gene DOID:423 myopathy ISO RGD:1604800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy 12407522 TRAPPC11 trafficking protein particle complex subunit 11 gene DOID:630 genetic disease ISO RGD:1604800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 12407522 TRAPPC11 trafficking protein particle complex subunit 11 gene DOID:9007661 Dwarfism ISO RGD:1604800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:28492532 12407522 TRAPPC11 trafficking protein particle complex subunit 11 gene DOID:9008732 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 ISO RGD:1604800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23 PMID:17576681|PMID:23830518|PMID:25741868|PMID:28492532|PMID:29158550|PMID:31575891|PMID:9536098 12407556 CDH22 cadherin 22 gene DOID:2234 focal epilepsy ISO RGD:732591 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12407556 CDH22 cadherin 22 gene DOID:630 genetic disease ISO RGD:732591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407556 CDH22 cadherin 22 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 12407572 TP63 tumor protein p63 gene DOID:0050601 ADULT syndrome ISO RGD:1604844 D RGD:7240710 20180130 OMIM 12407572 TP63 tumor protein p63 gene DOID:0050601 ADULT syndrome ISO RGD:1604844 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome PMID:11462173|PMID:11528512|PMID:11929852|PMID:16114047|PMID:16724007|PMID:16740912|PMID:17041931|PMID:17224651|PMID:17431922|PMID:17576681|PMID:18603493|PMID:18626511|PMID:19530185|PMID:19781362|PMID:20543567|PMID:21204238|PMID:24309930|PMID:25741868|PMID:27469932|PMID:28492532|PMID:8456838|PMID:8737655|PMID:9443880|PMID:9536098 12407572 TP63 tumor protein p63 gene DOID:0060330 Rapp-Hodgkin syndrome ISO RGD:1604844 D RGD:7240710 20180130 OMIM 12407572 TP63 tumor protein p63 gene DOID:0060330 Rapp-Hodgkin syndrome ISO RGD:1604844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with cleft lip/palate PMID:10535733|PMID:10839977|PMID:10886756|PMID:11462173|PMID:12525544|PMID:12766194|PMID:12939657|PMID:15200513|PMID:15983386|PMID:16740912|PMID:17576681|PMID:17609671|PMID:18326838|PMID:18626511|PMID:18792980|PMID:19239083|PMID:19353588|PMID:19903181|PMID:20543567|PMID:21078104|PMID:21652629|PMID:22607287|PMID:23355676|PMID:23431748|PMID:23463580|PMID:23775923|PMID:24309930|PMID:25741868|PMID:28293528|PMID:28492532|PMID:29620206|PMID:29956718|PMID:9536098 12407572 TP63 tumor protein p63 gene DOID:0060782 EEC syndrome ISO RGD:1604844 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome PMID:10535733|PMID:10839977|PMID:11462173|PMID:12161593|PMID:12445213|PMID:12525544|PMID:12939657|PMID:16691622|PMID:16740912|PMID:17041931|PMID:17431922|PMID:17576681|PMID:18326838|PMID:18626511|PMID:18792980|PMID:19353588|PMID:19663851|PMID:19903181|PMID:20180707|PMID:20543567|PMID:21078104|PMID:21204238|PMID:21211247|PMID:21652629|PMID:22607287|PMID:23355676|PMID:23431748|PMID:23463580|PMID:23775923|PMID:24309930|PMID:24734328|PMID:25741868|PMID:26380986|PMID:26882220|PMID:27028492|PMID:27798044|PMID:28293528|PMID:28492532|PMID:29130604|PMID:29620206|PMID:31050217|PMID:8737655|PMID:9443880|PMID:9536098 12407572 TP63 tumor protein p63 gene DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ISO RGD:1604844 D RGD:7240710 20180130 OMIM 12407572 TP63 tumor protein p63 gene DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ISO RGD:1604844 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 PMID:10535733|PMID:10839977|PMID:10936828|PMID:11462173|PMID:12161593|PMID:12445213|PMID:12525544|PMID:12838557|PMID:12939657|PMID:16691622|PMID:16740912|PMID:17041931|PMID:17431922|PMID:17576681|PMID:18326838|PMID:18626511|PMID:18792980|PMID:19353588|PMID:19663851|PMID:19903181|PMID:20180707|PMID:20543567|PMID:21078104|PMID:21204238|PMID:21211247|PMID:21652629|PMID:22607287|PMID:23355676|PMID:23431748|PMID:23463580|PMID:23775923|PMID:24309930|PMID:24734328|PMID:25741868|PMID:25983622|PMID:26380986|PMID:26882220|PMID:27028492|PMID:27798044|PMID:28293528|PMID:28492532|PMID:29130604|PMID:29620206|PMID:30655312|PMID:31050217|PMID:8737655|PMID:9028452|PMID:9443880|PMID:9536098 12407572 TP63 tumor protein p63 gene DOID:0080006 bone development disease ISO RGD:1604844 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 12407572 TP63 tumor protein p63 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1604844 D RGD:9068941 20200609 RGD DNA:deletion, insertion, SNPs: :multiple PMID:23284286|REF_RGD_ID:11568641 12407572 TP63 tumor protein p63 gene DOID:0080174 bladder exstrophy ISO RGD:736710 D RGD:9068941 20220825 MouseDO OMIM:600057 12407572 TP63 tumor protein p63 gene DOID:0080401 orofacial cleft 8 ISO RGD:1604844 D RGD:7240710 20190315 OMIM 12407572 TP63 tumor protein p63 gene DOID:0080401 orofacial cleft 8 ISO RGD:1604844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Orofacial cleft 8 PMID:16740912|PMID:17576681|PMID:24309930|PMID:25741868|PMID:27798044|PMID:28492532|PMID:29500247|PMID:9536098 12407572 TP63 tumor protein p63 gene DOID:0090020 split hand-foot malformation ISO RGD:1604844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectrodactyly 12407572 TP63 tumor protein p63 gene DOID:0090023 split hand-foot malformation 4 ISO RGD:1604844 D RGD:7240710 20180130 OMIM 12407572 TP63 tumor protein p63 gene DOID:0090023 split hand-foot malformation 4 ISO RGD:1604844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 4 | ClinVar Annotator: match by term: Split-hand/foot malformation 4 PMID:10535733|PMID:10839977|PMID:12161593|PMID:12525544|PMID:15736220|PMID:16740912|PMID:17224651|PMID:17576681|PMID:18626511|PMID:18792980|PMID:20543567|PMID:21078104|PMID:21211247|PMID:21652629|PMID:23355676|PMID:23463580|PMID:24309930|PMID:25741868|PMID:28293528|PMID:28492532|PMID:29620206|PMID:31050217|PMID:3366140|PMID:34008892|PMID:9536098 12407572 TP63 tumor protein p63 gene DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ISO RGD:1604844 D RGD:7240710 20180130 OMIM 12407572 TP63 tumor protein p63 gene DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ISO RGD:1604844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome PMID:10886756|PMID:11159940|PMID:15200513|PMID:16740912|PMID:17576681|PMID:19239083|PMID:19353588|PMID:19793345|PMID:21615690|PMID:24309930|PMID:25741868|PMID:28492532|PMID:9536098|PMID:9774969 12407572 TP63 tumor protein p63 gene DOID:10283 prostate cancer ISO RGD:1604844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12407572 TP63 tumor protein p63 gene DOID:10787 premature menopause ISO RGD:1604844 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Premature menopause PMID:25741868|PMID:30924587|PMID:35801529|PMID:36856110 12407572 TP63 tumor protein p63 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1604844 D RGD:9068941 20200609 RGD PMID:19690775|REF_RGD_ID:2315430 12407572 TP63 tumor protein p63 gene DOID:11514 fissured tongue ISO RGD:1604844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Furrowed tongue PMID:25741868 12407572 TP63 tumor protein p63 gene DOID:1324 lung cancer ISO RGD:1604844 D RGD:9068941 20220721 RGD DNA:SNP:intron:rs12696594 (human) PMID:29193083|REF_RGD_ID:153297750 12407572 TP63 tumor protein p63 gene DOID:13938 amenorrhea ISO RGD:1604844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12407572 TP63 tumor protein p63 gene DOID:1749 squamous cell carcinoma ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21527555 12407572 TP63 tumor protein p63 gene DOID:1793 pancreatic cancer ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098869 12407572 TP63 tumor protein p63 gene DOID:2121 ectodermal dysplasia ISO RGD:1604844 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.K193E (577A>G) (human) PMID:22574117|REF_RGD_ID:11568633 12407572 TP63 tumor protein p63 gene DOID:2671 transitional cell carcinoma ISO RGD:1604844 D RGD:9068941 20200609 RGD PMID:18955789|REF_RGD_ID:2315431 12407572 TP63 tumor protein p63 gene DOID:299 adenocarcinoma ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20871597 12407572 TP63 tumor protein p63 gene DOID:305 carcinoma ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23271742 12407572 TP63 tumor protein p63 gene DOID:3168 squamous cell neoplasm ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23271742 12407572 TP63 tumor protein p63 gene DOID:3463 breast disease ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11462173 12407572 TP63 tumor protein p63 gene DOID:3910 lung adenocarcinoma ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24880342 12407572 TP63 tumor protein p63 gene DOID:5419 schizophrenia ISO RGD:1604844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12407572 TP63 tumor protein p63 gene DOID:5426 primary ovarian insufficiency ISO RGD:1604844 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:30924587|PMID:35801529|PMID:36856110 12407572 TP63 tumor protein p63 gene DOID:630 genetic disease ISO RGD:1604844 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10535733|PMID:10839977|PMID:11462173|PMID:12161593|PMID:12445213|PMID:12525544|PMID:19353588|PMID:20180707|PMID:21652629|PMID:23355676|PMID:24734328|PMID:25741868|PMID:26882220|PMID:27028492|PMID:28492532|PMID:29130604 12407572 TP63 tumor protein p63 gene DOID:674 cleft palate ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11462173 12407572 TP63 tumor protein p63 gene DOID:8534 gastroesophageal reflux disease ISO RGD:736710 D RGD:9068941 20220825 MouseDO OMIM:109350 12407572 TP63 tumor protein p63 gene DOID:8634 prostate carcinoma in situ ISO RGD:1604844 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:17189982|REF_RGD_ID:2315434 12407572 TP63 tumor protein p63 gene DOID:8634 prostate carcinoma in situ ISO RGD:736710 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581815 12407572 TP63 tumor protein p63 gene DOID:8634 prostate carcinoma in situ ISO RGD:736710 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:17982114|REF_RGD_ID:2315433 12407572 TP63 tumor protein p63 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1604844 D RGD:9068941 20200609 RGD PMID:16804722|REF_RGD_ID:2315435 12407572 TP63 tumor protein p63 gene DOID:9000067 Congenital Foot Deformities ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11462173 12407572 TP63 tumor protein p63 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15875781 12407572 TP63 tumor protein p63 gene DOID:9001946 Skin Abnormalities ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10227294 12407572 TP63 tumor protein p63 gene DOID:9002170 Experimental Neoplasms ISO RGD:736710 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25739959 12407572 TP63 tumor protein p63 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604844 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:17189982|REF_RGD_ID:2315434 12407572 TP63 tumor protein p63 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736710 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581815 12407572 TP63 tumor protein p63 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736710 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:17982114|REF_RGD_ID:2315433 12407572 TP63 tumor protein p63 gene DOID:9002385 Limb-Mammary Syndrome ISO RGD:1604844 D RGD:7240710 20180130 OMIM 12407572 TP63 tumor protein p63 gene DOID:9002385 Limb-Mammary Syndrome ISO RGD:1604844 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Limb-mammary syndrome | ClinVar Annotator: match by term: Mammary hypoplasia, ectrodactyly, and other hand/foot anomalies PMID:11462173|PMID:16740912|PMID:17576681|PMID:18627043|PMID:24309930|PMID:25741868|PMID:28492532|PMID:32067224|PMID:9536098|PMID:9774969 12407572 TP63 tumor protein p63 gene DOID:9002739 Female Urogenital Diseases ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 12407572 TP63 tumor protein p63 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21266360 12407572 TP63 tumor protein p63 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1604844 D RGD:9068941 20200609 RGD mRNA:alternative form (human) PMID:17998283|REF_RGD_ID:2315432 12407572 TP63 tumor protein p63 gene DOID:9004321 Corneal Injuries ISO RGD:736710 D RGD:9068941 20200609 RGD PMID:12167247|REF_RGD_ID:11568649 12407572 TP63 tumor protein p63 gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:1604844 D RGD:9068941 20200609 RGD PMID:19402389|REF_RGD_ID:2315436 12407572 TP63 tumor protein p63 gene DOID:9004795 Congenital Hand Deformities ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11462173 12407572 TP63 tumor protein p63 gene DOID:9005172 Lung Neoplasms ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20871597|PMID:21725308 12407572 TP63 tumor protein p63 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620863 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:20041964|REF_RGD_ID:11568648 12407572 TP63 tumor protein p63 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10227294 12407572 TP63 tumor protein p63 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1604844 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:p.R204Q (c.611G>A), p.R227Q (c.680G>A), p.S271T (c.812G>C) (human) PMID:20410354|REF_RGD_ID:11568637 12407572 TP63 tumor protein p63 gene DOID:9006424 Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 ISO RGD:1604844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cleft lip with or without cleft palate, nonsyndromic, 8 PMID:16740912|PMID:17576681|PMID:24309930|PMID:25741868|PMID:27798044|PMID:28492532|PMID:9536098 12407572 TP63 tumor protein p63 gene DOID:9007274 Sweat Gland Neoplasms ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20740144 12407572 TP63 tumor protein p63 gene DOID:9007285 Primary Ovarian Insufficiency 21 ISO RGD:1604844 D RGD:7240710 20230505 OMIM 12407572 TP63 tumor protein p63 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 12407572 TP63 tumor protein p63 gene DOID:9007653 Multiple Abnormalities ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466819 12407572 TP63 tumor protein p63 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15875781 12407572 TP63 tumor protein p63 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10227294 12407572 TP63 tumor protein p63 gene DOID:9008939 Breast Neoplasms ISO RGD:736710 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25739959 12407572 TP63 tumor protein p63 gene DOID:9296 cleft lip ISO RGD:1604844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant 12407572 TP63 tumor protein p63 gene DOID:9884 muscular dystrophy ISO RGD:1604844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:25741868 12407610 KLHDC8A kelch domain containing 8A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1605377 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12407610 KLHDC8A kelch domain containing 8A gene DOID:12849 autistic disorder ISO RGD:1605377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12407610 KLHDC8A kelch domain containing 8A gene DOID:1540 parathyroid carcinoma ISO RGD:1605377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12407610 KLHDC8A kelch domain containing 8A gene DOID:630 genetic disease ISO RGD:1605377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407610 KLHDC8A kelch domain containing 8A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1605377 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12407610 KLHDC8A kelch domain containing 8A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12407620 RRP15 ribosomal RNA processing 15 homolog gene DOID:0050439 Usher syndrome ISO RGD:1606298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 12407620 RRP15 ribosomal RNA processing 15 homolog gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1606298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12407620 RRP15 ribosomal RNA processing 15 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1606298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12407620 RRP15 ribosomal RNA processing 15 homolog gene DOID:630 genetic disease ISO RGD:1606298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407620 RRP15 ribosomal RNA processing 15 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12407629 OTOP1 otopetrin 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:735811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12407629 OTOP1 otopetrin 1 gene DOID:630 genetic disease ISO RGD:735811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407638 SUPV3L1 Suv3 like RNA helicase gene DOID:1697 ichthyosis ISO RGD:1313667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19145458 12407638 SUPV3L1 Suv3 like RNA helicase gene DOID:630 genetic disease ISO RGD:1313667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407638 SUPV3L1 Suv3 like RNA helicase gene DOID:9001946 Skin Abnormalities ISO RGD:1313667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19145458 12407638 SUPV3L1 Suv3 like RNA helicase gene DOID:9008824 Sarcopenia ISO RGD:1313667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19145458 12407638 SUPV3L1 Suv3 like RNA helicase gene DOID:987 alopecia ISO RGD:1313667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19145458 12407660 FBXO38 F-box protein 38 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1322999 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12407660 FBXO38 F-box protein 38 gene DOID:0111206 distal hereditary motor neuronopathy type 2 ISO RGD:1322999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 PMID:16199547|PMID:17576681|PMID:24207122|PMID:25741868|PMID:28166811|PMID:28492532|PMID:31420593|PMID:32579787|PMID:7723957|PMID:9536098 12407660 FBXO38 F-box protein 38 gene DOID:0111210 distal hereditary motor neuronopathy type 2D ISO RGD:1322999 D RGD:7240710 20180130 OMIM 12407660 FBXO38 F-box protein 38 gene DOID:0111210 distal hereditary motor neuronopathy type 2D ISO RGD:1322999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2D PMID:24207122|PMID:25741868|PMID:28492532|PMID:31420593|PMID:32579787|PMID:7723957 12407660 FBXO38 F-box protein 38 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1322999 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532 12407660 FBXO38 F-box protein 38 gene DOID:12377 spinal muscular atrophy ISO RGD:1322999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:28492532 12407660 FBXO38 F-box protein 38 gene DOID:630 genetic disease ISO RGD:1322999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28106320|PMID:28492532|PMID:9536098 12407660 FBXO38 F-box protein 38 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12407660 FBXO38 F-box protein 38 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322999 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12407695 MYG1 MYG1 exonuclease gene DOID:0050602 triple-A syndrome ISO RGD:1350875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Achalasia alacrima syndrome 12407706 ST6GALNAC1 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 gene DOID:630 genetic disease ISO RGD:1349171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407720 EN1 engrailed homeobox 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1351603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12407720 EN1 engrailed homeobox 1 gene DOID:0080855 Parkinsonism ISO RGD:1557783 D RGD:9068941 20200609 RGD PMID:17015829|REF_RGD_ID:5687199 12407720 EN1 engrailed homeobox 1 gene DOID:14330 Parkinson's disease ISO RGD:1351603 D RGD:9068941 20200609 RGD DNA:SNP:enhancer: (rs1438852) (human) PMID:19345444|REF_RGD_ID:5687197 12407720 EN1 engrailed homeobox 1 gene DOID:14330 Parkinson's disease ISO RGD:1618434 D RGD:9068941 20220825 MouseDO 12407720 EN1 engrailed homeobox 1 gene DOID:630 genetic disease ISO RGD:1351603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407720 EN1 engrailed homeobox 1 gene DOID:863 nervous system disease ISO RGD:1351603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892157 12407720 EN1 engrailed homeobox 1 gene DOID:9000530 ENDOVE SYNDROME, LIMB-BRAIN TYPE ISO RGD:1351603 D RGD:7240710 20210414 OMIM 12407720 EN1 engrailed homeobox 1 gene DOID:9000530 ENDOVE SYNDROME, LIMB-BRAIN TYPE ISO RGD:1351603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endove syndrome, limb-brain type PMID:33568816 12407720 EN1 engrailed homeobox 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1351603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12407720 EN1 engrailed homeobox 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1351603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 12407729 GRXCR1 glutaredoxin and cysteine rich domain containing 1 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:2298825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:20137778|PMID:30303587 12407729 GRXCR1 glutaredoxin and cysteine rich domain containing 1 gene DOID:0110483 autosomal recessive nonsyndromic deafness 25 ISO RGD:2298825 D RGD:7240710 20180130 OMIM 12407729 GRXCR1 glutaredoxin and cysteine rich domain containing 1 gene DOID:0110483 autosomal recessive nonsyndromic deafness 25 ISO RGD:2298825 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 25 PMID:16380907|PMID:20137774|PMID:20137778|PMID:24033266|PMID:25741868|PMID:25802247|PMID:26226137|PMID:26467025|PMID:26969326|PMID:28492532|PMID:30303587|PMID:30311386|PMID:32279305|PMID:34753855|PMID:35802133|PMID:36633841|PMID:36672810 12407729 GRXCR1 glutaredoxin and cysteine rich domain containing 1 gene DOID:5419 schizophrenia ISO RGD:2298825 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12407729 GRXCR1 glutaredoxin and cysteine rich domain containing 1 gene DOID:630 genetic disease ISO RGD:2298825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12407729 GRXCR1 glutaredoxin and cysteine rich domain containing 1 gene DOID:9004538 Hearing Loss ISO RGD:2298825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:25802247|PMID:28492532|PMID:30311386 12407729 GRXCR1 glutaredoxin and cysteine rich domain containing 1 gene DOID:9008681 Deafness ISO RGD:2298825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 12407738 GPR17 G protein-coupled receptor 17 gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1347471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:25741868|PMID:28492532 12407738 GPR17 G protein-coupled receptor 17 gene DOID:0111220 centronuclear myopathy 2 ISO RGD:1347471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 12407738 GPR17 G protein-coupled receptor 17 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1347471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 12407738 GPR17 G protein-coupled receptor 17 gene DOID:3454 brain infarction ISO RGD:1347471 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18974869 12407738 GPR17 G protein-coupled receptor 17 gene DOID:630 genetic disease ISO RGD:1347471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407738 GPR17 G protein-coupled receptor 17 gene DOID:9000808 Hypercholesterolemia ISO RGD:1347471 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34144038 12407738 GPR17 G protein-coupled receptor 17 gene DOID:9004581 Pediatric Obesity ISO RGD:1347471 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34144038 12407738 GPR17 G protein-coupled receptor 17 gene DOID:9006646 Metabolic Syndrome ISO RGD:1347471 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34144038 12407738 GPR17 G protein-coupled receptor 17 gene DOID:9007692 Insulin Resistance ISO RGD:1347471 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34144038 12407738 GPR17 G protein-coupled receptor 17 gene DOID:9970 obesity ISO RGD:1347471 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34144038 12407761 MIR150 microRNA mir-150 gene DOID:0060180 colitis ISO RGD:1342949 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26937033 12407761 MIR150 microRNA mir-150 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1342949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 12407761 MIR150 microRNA mir-150 gene DOID:13250 diarrhea ISO RGD:1342949 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26937033 12407761 MIR150 microRNA mir-150 gene DOID:4989 pancreatitis ISO RGD:1342949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12407761 MIR150 microRNA mir-150 gene DOID:552 pneumonia ISO RGD:1342949 D RGD:9068941 20211210 CTD CTD Direct Evidence: therapeutic PMID:29205062 12407761 MIR150 microRNA mir-150 gene DOID:6000 congestive heart failure ISO RGD:1342949 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12407761 MIR150 microRNA mir-150 gene DOID:684 hepatocellular carcinoma ISO RGD:1342949 D RGD:9068941 20220901 RGD mRNA:decreased expression:liver (human) PMID:30205391|REF_RGD_ID:153344577 12407761 MIR150 microRNA mir-150 gene DOID:8552 chronic myeloid leukemia ISO RGD:1342949 D RGD:9068941 20200609 RGD miRNA:decreased expression:leukocytes PMID:21501493|REF_RGD_ID:13782140 12407761 MIR150 microRNA mir-150 gene DOID:9001865 Myeloid Leukemia, Accelerated Phase ISO RGD:1342949 D RGD:9068941 20200609 RGD miRNA:decreased expression:leukocytes PMID:21501493|REF_RGD_ID:13782140 12407761 MIR150 microRNA mir-150 gene DOID:9002473 Blast Crisis ISO RGD:1342949 D RGD:9068941 20200609 RGD miRNA:decreased expression:leukocytes PMID:21501493|REF_RGD_ID:13782140 12407761 MIR150 microRNA mir-150 gene DOID:9005091 Lentivirus Infections ISO RGD:1342949 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26937033 12407761 MIR150 microRNA mir-150 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12407761 MIR150 microRNA mir-150 gene DOID:9256 colorectal cancer ISO RGD:1342949 D RGD:9068941 20220825 RGD RNA:decreased expression:colorectum (human) PMID:23758639|REF_RGD_ID:153344558 12407761 MIR150 microRNA mir-150 gene DOID:9452 fatty liver disease ISO RGD:1342949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12407764 MIR126 microRNA mir-126 gene DOID:0050777 Joubert syndrome ISO RGD:1348236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12407764 MIR126 microRNA mir-126 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1348236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12407764 MIR126 microRNA mir-126 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1348236 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12407764 MIR126 microRNA mir-126 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1348236 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12407764 MIR126 microRNA mir-126 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1348236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12407764 MIR126 microRNA mir-126 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1348236 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12407764 MIR126 microRNA mir-126 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1348236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12407764 MIR126 microRNA mir-126 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1348236 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12407764 MIR126 microRNA mir-126 gene DOID:0081097 Rafiq syndrome ISO RGD:1348236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12407764 MIR126 microRNA mir-126 gene DOID:10283 prostate cancer ISO RGD:1348236 D RGD:9068941 20200609 RGD RNA:decreased expression:prostate gland PMID:26677064|REF_RGD_ID:11561757 12407764 MIR126 microRNA mir-126 gene DOID:10591 pre-eclampsia ISO RGD:1348236 D RGD:9068941 20230128 RGD miRNA:decreased expression:blood serum (human) PMID:25017274|REF_RGD_ID:155882496 12407764 MIR126 microRNA mir-126 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1348236 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12407764 MIR126 microRNA mir-126 gene DOID:1790 malignant mesothelioma ISO RGD:1348236 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:21483773 12407764 MIR126 microRNA mir-126 gene DOID:1826 epilepsy ISO RGD:1348236 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12407764 MIR126 microRNA mir-126 gene DOID:219 colon cancer ISO RGD:1348236 D RGD:9068941 20200609 RGD PMID:18663744|REF_RGD_ID:13432043 12407764 MIR126 microRNA mir-126 gene DOID:219 colon cancer disease_progression ISO RGD:1608344 D RGD:9068941 20220825 RGD human cells in mouse model;RNA:increased expression:colon,exosome (human) PMID:28211508|REF_RGD_ID:153344546 12407764 MIR126 microRNA mir-126 gene DOID:3393 coronary artery disease disease_progression ISO RGD:1348236 D RGD:9068941 20230202 RGD miRNA:increased expression:blood plasma (human) PMID:25728840|REF_RGD_ID:11056497 12407764 MIR126 microRNA mir-126 gene DOID:3652 Leigh disease ISO RGD:1348236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12407764 MIR126 microRNA mir-126 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1348236 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20097187 12407764 MIR126 microRNA mir-126 gene DOID:6000 congestive heart failure ISO RGD:1348236 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12407764 MIR126 microRNA mir-126 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1348236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12407764 MIR126 microRNA mir-126 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1348236 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12407764 MIR126 microRNA mir-126 gene DOID:9008939 Breast Neoplasms ISO RGD:1348236 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 12407764 MIR126 microRNA mir-126 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348236 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478399 12407790 EBAG9 estrogen receptor binding site associated antigen 9 gene DOID:10591 pre-eclampsia ISO RGD:1316400 D RGD:9068941 20200609 RGD protein:increased expression:decidua PMID:17845206|REF_RGD_ID:2289846 12407790 EBAG9 estrogen receptor binding site associated antigen 9 gene DOID:1612 breast cancer ISO RGD:1316400 D RGD:9068941 20200609 RGD DNA:amplification PMID:12160478|REF_RGD_ID:2289857 12407790 EBAG9 estrogen receptor binding site associated antigen 9 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1316400 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:15164121|REF_RGD_ID:2289854 12407790 EBAG9 estrogen receptor binding site associated antigen 9 gene DOID:2870 endometrial adenocarcinoma ISO RGD:1316400 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:16112719|REF_RGD_ID:2289850 12407790 EBAG9 estrogen receptor binding site associated antigen 9 gene DOID:289 endometriosis ISO RGD:1316400 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium PMID:16112719|REF_RGD_ID:2289850 12407790 EBAG9 estrogen receptor binding site associated antigen 9 gene DOID:3007 breast ductal carcinoma severity ISO RGD:1316400 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:12054692|REF_RGD_ID:2298489 12407790 EBAG9 estrogen receptor binding site associated antigen 9 gene DOID:3008 invasive ductal carcinoma ISO RGD:1316400 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:breast PMID:11742495|REF_RGD_ID:2289858 12407790 EBAG9 estrogen receptor binding site associated antigen 9 gene DOID:363 uterine cancer ISO RGD:1316400 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16842844|REF_RGD_ID:2289849 12407790 EBAG9 estrogen receptor binding site associated antigen 9 gene DOID:4362 cervical cancer disease_progression ISO RGD:1316400 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:16112176|REF_RGD_ID:2289851 12407790 EBAG9 estrogen receptor binding site associated antigen 9 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1316401 D RGD:9068941 20200609 RGD PMID:15867365|REF_RGD_ID:2289852 12407790 EBAG9 estrogen receptor binding site associated antigen 9 gene DOID:630 genetic disease ISO RGD:1316400 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407790 EBAG9 estrogen receptor binding site associated antigen 9 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1316400 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:breast PMID:12054692|PMID:17187007|REF_RGD_ID:2289847|REF_RGD_ID:2298489 12407790 EBAG9 estrogen receptor binding site associated antigen 9 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1316400 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasm;protein:increased expression:prostate gland, lymph node PMID:12845666|REF_RGD_ID:2289856 12407811 POLR2F RNA polymerase II, I and III subunit F gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:734063 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12407811 POLR2F RNA polymerase II, I and III subunit F gene DOID:0090036 myoclonic dystonia 26 ISO RGD:734063 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12407811 POLR2F RNA polymerase II, I and III subunit F gene DOID:0090111 PCWH syndrome ISO RGD:734063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PCWH syndrome PMID:10482261|PMID:10762540|PMID:11026454|PMID:12447940|PMID:15004559|PMID:1636383|PMID:17855451|PMID:17999358|PMID:19764030|PMID:20127975|PMID:22008330|PMID:24033266|PMID:25741868|PMID:25991456|PMID:26467025|PMID:27240497|PMID:28492532|PMID:30311386|PMID:9462749 12407811 POLR2F RNA polymerase II, I and III subunit F gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:734063 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12407811 POLR2F RNA polymerase II, I and III subunit F gene DOID:0110948 Waardenburg syndrome type 1 ISO RGD:734063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 1 PMID:21898658|PMID:28390600 12407811 POLR2F RNA polymerase II, I and III subunit F gene DOID:0110950 Waardenburg syndrome type 2A ISO RGD:734063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2A PMID:25741868|PMID:29407415|PMID:30311386|PMID:34599368 12407811 POLR2F RNA polymerase II, I and III subunit F gene DOID:0110953 Waardenburg syndrome type 4A ISO RGD:734063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 4A PMID:25741868 12407811 POLR2F RNA polymerase II, I and III subunit F gene DOID:0110955 Waardenburg syndrome type 4C ISO RGD:734063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 4C PMID:10077527|PMID:15004559|PMID:18348274|PMID:21965087|PMID:24033266|PMID:25741868|PMID:25991456|PMID:28492532|PMID:29407415|PMID:30311386|PMID:33442024|PMID:33724713|PMID:34599368|PMID:9462749 12407811 POLR2F RNA polymerase II, I and III subunit F gene DOID:0110956 Waardenburg syndrome type 2E ISO RGD:734063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2E | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, with neurologic involvement | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, without neurologic involvement PMID:10077527|PMID:10441344|PMID:17999358|PMID:18348267|PMID:18627047|PMID:19208381|PMID:20478267|PMID:21898658|PMID:21965087|PMID:23237859|PMID:23643381|PMID:24033266|PMID:25077900|PMID:25741868|PMID:26467025|PMID:27240497|PMID:27562378|PMID:28000701|PMID:28492532|PMID:31152317|PMID:31427586|PMID:32853555|PMID:32908489|PMID:33442024|PMID:33597575|PMID:33865100|PMID:34142234|PMID:35802133|PMID:36633841|PMID:8911608 12407811 POLR2F RNA polymerase II, I and III subunit F gene DOID:10487 Hirschsprung's disease ISO RGD:734063 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:24357527 12407811 POLR2F RNA polymerase II, I and III subunit F gene DOID:1059 intellectual disability ISO RGD:734063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12407811 POLR2F RNA polymerase II, I and III subunit F gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:734063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11026454|PMID:16504559 12407811 POLR2F RNA polymerase II, I and III subunit F gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:734063 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12407811 POLR2F RNA polymerase II, I and III subunit F gene DOID:3614 Kallmann syndrome ISO RGD:734063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadism with anosmia 12407811 POLR2F RNA polymerase II, I and III subunit F gene DOID:630 genetic disease ISO RGD:734063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12407811 POLR2F RNA polymerase II, I and III subunit F gene DOID:9004042 Olfaction Disorders ISO RGD:734063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anosmia PMID:25741868 12407811 POLR2F RNA polymerase II, I and III subunit F gene DOID:9004147 Anosmia ISO RGD:734063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anosmia PMID:25741868 12407811 POLR2F RNA polymerase II, I and III subunit F gene DOID:9004538 Hearing Loss ISO RGD:734063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:17999358|PMID:20127975|PMID:26467025|PMID:27240497|PMID:28492532|PMID:30311386 12407811 POLR2F RNA polymerase II, I and III subunit F gene DOID:9008681 Deafness ISO RGD:734063 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Deafness with anatomical inner ear anomalies PMID:25077900|PMID:27562378|PMID:28492532|PMID:29419413|PMID:32908489|PMID:35802133|PMID:36633841 12407811 POLR2F RNA polymerase II, I and III subunit F gene DOID:9258 Waardenburg's syndrome ISO RGD:734063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome PMID:17999358|PMID:20127975|PMID:22008330|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27240497|PMID:28492532|PMID:30311386|PMID:9462749 12407823 APOM apolipoprotein M gene DOID:0050553 JMP syndrome ISO RGD:1351807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12407823 APOM apolipoprotein M gene DOID:11372 megacolon ISO RGD:1351807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12407823 APOM apolipoprotein M gene DOID:3393 coronary artery disease susceptibility ISO RGD:1351807 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-778T>C(rs805296)(human) PMID:17674965|REF_RGD_ID:2314241 12407823 APOM apolipoprotein M gene DOID:630 genetic disease ISO RGD:1351807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407823 APOM apolipoprotein M gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1551634 D RGD:9068941 20200609 RGD protein:decreased secretion:plasma PMID:16516154|REF_RGD_ID:2314249 12407823 APOM apolipoprotein M gene DOID:9006646 Metabolic Syndrome ISO RGD:1351807 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19539616|REF_RGD_ID:2314236 12407823 APOM apolipoprotein M gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1351807 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-778T>C(rs805296)(human) PMID:16572495|REF_RGD_ID:2314248 12407823 APOM apolipoprotein M gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1351807 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-778T>C(rs805296)(human) PMID:19007767|REF_RGD_ID:2314238 12407842 HJV hemojuvelin BMP co-receptor gene DOID:0111027 hemochromatosis type 2A ISO RGD:1320952 D RGD:7240710 20190315 OMIM 12407842 HJV hemojuvelin BMP co-receptor gene DOID:0111027 hemochromatosis type 2A ISO RGD:1320952 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 2A PMID:12482411|PMID:12891378|PMID:14647275|PMID:14982867|PMID:14982873|PMID:15138164|PMID:15194541|PMID:15254010|PMID:15461631|PMID:15610558|PMID:15710580|PMID:15775751|PMID:15811010|PMID:16103117|PMID:17339196|PMID:17490902|PMID:17726683|PMID:17938254|PMID:18492090|PMID:18827264|PMID:18976966|PMID:19796184|PMID:19907145|PMID:20301349|PMID:21411349|PMID:21901660|PMID:22408404|PMID:24033266|PMID:25741868|PMID:26151776|PMID:26633544|PMID:27753142|PMID:28363629|PMID:28492532|PMID:29764732|PMID:30166352|PMID:30195625|PMID:30389309|PMID:32824233|PMID:34946929 12407842 HJV hemojuvelin BMP co-receptor gene DOID:0111029 hemochromatosis type 1 ISO RGD:1320952 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 1 PMID:12891378|PMID:14647275|PMID:14982867|PMID:14982873|PMID:15138164|PMID:15254010|PMID:15610558|PMID:15811010|PMID:16103117|PMID:17339196|PMID:18827264|PMID:19796184|PMID:22408404|PMID:24033266|PMID:25741868|PMID:28492532 12407842 HJV hemojuvelin BMP co-receptor gene DOID:0111034 hemochromatosis type 2 ISO RGD:1320952 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 2 | ClinVar Annotator: match by term: Juvenile hemochromatosis PMID:25741868|PMID:28492532|PMID:29764732 12407842 HJV hemojuvelin BMP co-receptor gene DOID:13580 cholestasis ISO RGD:1320952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12407842 HJV hemojuvelin BMP co-receptor gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1320952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 12407842 HJV hemojuvelin BMP co-receptor gene DOID:1540 parathyroid carcinoma ISO RGD:1320952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12407842 HJV hemojuvelin BMP co-receptor gene DOID:2352 hemochromatosis ISO RGD:1320952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16868025|PMID:17255318|PMID:19252486|PMID:21411349 12407842 HJV hemojuvelin BMP co-receptor gene DOID:2352 hemochromatosis ISO RGD:1320952 D RGD:9068941 20200609 RGD juvenile hemochromatosis, type 2A, OMIM:602390 protein:substitution:CDS:G320V PMID:14647275|REF_RGD_ID:1599478 12407842 HJV hemojuvelin BMP co-receptor gene DOID:5419 schizophrenia ISO RGD:1320952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12407842 HJV hemojuvelin BMP co-receptor gene DOID:630 genetic disease ISO RGD:1320952 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407842 HJV hemojuvelin BMP co-receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12407842 HJV hemojuvelin BMP co-receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12407862 CALR3 calreticulin 3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1319475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:17655857|PMID:23861362|PMID:28492532 12407862 CALR3 calreticulin 3 gene DOID:0050700 cardiomyopathy ISO RGD:1319475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 12407862 CALR3 calreticulin 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1319475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 12407862 CALR3 calreticulin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1319475 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:16199547|PMID:17576681|PMID:17655857|PMID:23861362|PMID:25163546|PMID:25640679|PMID:25741868|PMID:28492532|PMID:29988065|PMID:31513939|PMID:9536098 12407862 CALR3 calreticulin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1319475 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:16199547|PMID:17576681|PMID:17655857|PMID:23861362|PMID:25163546|PMID:25640679|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29988065|PMID:30847666|PMID:31513939|PMID:9536098 12407862 CALR3 calreticulin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1319475 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:16199547|PMID:17576681|PMID:17655857|PMID:23861362|PMID:25163546|PMID:25640679|PMID:25741868|PMID:28087566|PMID:28166811|PMID:28492532|PMID:29988065|PMID:30847666|PMID:31513939|PMID:9536098 12407862 CALR3 calreticulin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1319475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:16199547|PMID:17576681|PMID:17655857|PMID:23861362|PMID:25163546|PMID:25640679|PMID:25741868|PMID:28087566|PMID:28492532|PMID:29988065|PMID:30847666|PMID:31513939|PMID:34127479|PMID:9536098 12407862 CALR3 calreticulin 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1319475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17655857|PMID:23861362|PMID:25741868|PMID:28492532|PMID:31513939 12407862 CALR3 calreticulin 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:29988065 12407862 CALR3 calreticulin 3 gene DOID:630 genetic disease ISO RGD:1319475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12407862 CALR3 calreticulin 3 gene DOID:9001172 FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19 ISO RGD:1319475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 19 PMID:23861362|PMID:25741868|PMID:28492532|PMID:29988065|PMID:30847666 12407878 OLFML1 olfactomedin like 1 gene DOID:630 genetic disease ISO RGD:1323529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407889 MCM8 minichromosome maintenance 8 homologous recombination repair factor gene DOID:0080867 primary ovarian insufficiency 10 ISO RGD:1313114 D RGD:7240710 20180130 OMIM 12407889 MCM8 minichromosome maintenance 8 homologous recombination repair factor gene DOID:0080867 primary ovarian insufficiency 10 ISO RGD:1313114 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 10 PMID:25437880|PMID:25741868|PMID:25873734|PMID:31042289 12407889 MCM8 minichromosome maintenance 8 homologous recombination repair factor gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1313114 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12407889 MCM8 minichromosome maintenance 8 homologous recombination repair factor gene DOID:14227 azoospermia ISO RGD:1313114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 12407889 MCM8 minichromosome maintenance 8 homologous recombination repair factor gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1313114 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12407889 MCM8 minichromosome maintenance 8 homologous recombination repair factor gene DOID:630 genetic disease ISO RGD:1313114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407920 TFIP11 tuftelin interacting protein 11 gene DOID:0110271 cataract 23 ISO RGD:1322916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 12407920 TFIP11 tuftelin interacting protein 11 gene DOID:630 genetic disease ISO RGD:1322916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407942 KRT7 keratin 7 gene DOID:12236 primary biliary cholangitis ISO RGD:1322014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21681009 12407942 KRT7 keratin 7 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1322015 D RGD:9068941 20200625 RGD protein:increased expression:lung (mouse) PMID:23919993|REF_RGD_ID:30310231 12407942 KRT7 keratin 7 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1322014 D RGD:9068941 20200609 RGD PMID:19260470|REF_RGD_ID:2317307 12407942 KRT7 keratin 7 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1322014 D RGD:9068941 20220331 RGD PMID:29788741|REF_RGD_ID:151665759 12407942 KRT7 keratin 7 gene DOID:4450 renal cell carcinoma ISO RGD:1322014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329|PMID:16927643 12407942 KRT7 keratin 7 gene DOID:4947 cholangiocarcinoma ISO RGD:1322014 D RGD:9068941 20200609 RGD PMID:18393293|REF_RGD_ID:2317308 12407942 KRT7 keratin 7 gene DOID:5389 oxyphilic adenoma ISO RGD:1322014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16927643 12407942 KRT7 keratin 7 gene DOID:630 genetic disease ISO RGD:1322014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407942 KRT7 keratin 7 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1322014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19921857 12407942 KRT7 keratin 7 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1310865 D RGD:9068941 20200609 RGD PMID:8570173|REF_RGD_ID:2317439 12407942 KRT7 keratin 7 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:1322014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 12407942 KRT7 keratin 7 gene DOID:9008510 Chronic Hepatitis ISO RGD:1322014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 12407955 FLII FLII actin remodeling protein gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1316872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dubé Syndrome PMID:20188345|PMID:28492532 12407955 FLII FLII actin remodeling protein gene DOID:0050777 Joubert syndrome ISO RGD:1316872 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12407955 FLII FLII actin remodeling protein gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1316872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12407955 FLII FLII actin remodeling protein gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1316872 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12407955 FLII FLII actin remodeling protein gene DOID:12849 autistic disorder ISO RGD:1316872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12407955 FLII FLII actin remodeling protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1316872 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10862770|PMID:20661277|PMID:25741868|PMID:32870709 12407955 FLII FLII actin remodeling protein gene DOID:630 genetic disease ISO RGD:1316872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12407955 FLII FLII actin remodeling protein gene DOID:9002189 High Myopia ISO RGD:1316872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12407955 FLII FLII actin remodeling protein gene DOID:9006836 Contracture ISO RGD:1316872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 12407992 MOCS1 molybdenum cofactor synthesis 1 gene DOID:0111164 molybdenum cofactor deficiency type A ISO RGD:1318258 D RGD:7240710 20180130 OMIM 12407992 MOCS1 molybdenum cofactor synthesis 1 gene DOID:0111164 molybdenum cofactor deficiency type A ISO RGD:1318258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A PMID:10327149|PMID:11891227|PMID:12754701|PMID:16021469|PMID:16199547|PMID:17576681|PMID:20573177|PMID:21031595|PMID:22403017|PMID:25640679|PMID:25741868|PMID:27289259|PMID:28274890|PMID:28492532|PMID:28600779|PMID:29274890|PMID:30695801|PMID:32014857|PMID:32099439|PMID:33552910|PMID:7660932|PMID:9536098|PMID:9634514|PMID:9731530|PMID:9921896 12407992 MOCS1 molybdenum cofactor synthesis 1 gene DOID:0111165 molybdenum cofactor deficiency ISO RGD:1318258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency PMID:28492532 12407992 MOCS1 molybdenum cofactor synthesis 1 gene DOID:1059 intellectual disability ISO RGD:1318258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 12407992 MOCS1 molybdenum cofactor synthesis 1 gene DOID:630 genetic disease ISO RGD:1318258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|PMID:9921896 12407992 MOCS1 molybdenum cofactor synthesis 1 gene DOID:9001753 Hypomyelinating Leukodystrophy 24 ISO RGD:1318258 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 24 PMID:12754701|PMID:16021469|PMID:16199547|PMID:25741868|PMID:28492532 12408012 HEY2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:0050451 Brugada syndrome ISO RGD:1354369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23872634 12408012 HEY2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1354369 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20001863 12408012 HEY2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:264 hemangiopericytoma ISO RGD:1354369 D RGD:9068941 20221110 RGD mRNA:increased expression:anterior temporal lobe PMID:26951238|REF_RGD_ID:155663351 12408012 HEY2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:3069 malignant astrocytoma ISO RGD:1354369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 12408012 HEY2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1354369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 12408012 HEY2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:5199 ureteral obstruction ISO RGD:1354369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 12408012 HEY2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:62 aortic valve disease ISO RGD:1553745 D RGD:9068941 20220825 MouseDO 12408012 HEY2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:630 genetic disease ISO RGD:1354369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408012 HEY2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:6419 tetralogy of Fallot ISO RGD:1553745 D RGD:9068941 20220825 MouseDO OMIM:187500 12408012 HEY2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:799 varicose veins ISO RGD:1354369 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:nucleus, vein: PMID:26808710|REF_RGD_ID:11529441 12408012 HEY2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:8947 diabetic retinopathy ISO RGD:1553745 D RGD:9068941 20221110 RGD mRNA:increased expression:retina: PMID:30787185|REF_RGD_ID:155663348 12408012 HEY2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:9006182 Carotid Artery Injuries ISO RGD:621405 D RGD:9068941 20200609 RGD PMID:11971902|REF_RGD_ID:625426 12408012 HEY2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1354369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 12408021 GRK7 G protein-coupled receptor kinase 7 gene DOID:630 genetic disease ISO RGD:1347561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408029 CDH17 cadherin 17 gene DOID:0080820 occupational asthma ISO RGD:733806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25918132 12408029 CDH17 cadherin 17 gene DOID:11372 megacolon ISO RGD:733806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12408029 CDH17 cadherin 17 gene DOID:630 genetic disease ISO RGD:733806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408063 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:0060903 thrombosis ISO RGD:1313078 D RGD:9068941 20200609 RGD PMID:9845553|REF_RGD_ID:11059524 12408063 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1313077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12408063 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:0110916 hereditary spherocytosis type 1 ISO RGD:1313078 D RGD:9068941 20220825 MouseDO OMIM:182900 12408063 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:0110918 hereditary spherocytosis type 3 ISO RGD:1313077 D RGD:7240710 20180130 OMIM 12408063 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:0110918 hereditary spherocytosis type 3 ISO RGD:1313077 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis type 3 | ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive PMID:15071791|PMID:15384986|PMID:1638030|PMID:21212007|PMID:23241237|PMID:24033266|PMID:25741868|PMID:26002053|PMID:27292444|PMID:27667160|PMID:28492532|PMID:31038472|PMID:31147440|PMID:31333484|PMID:31602632|PMID:31723846|PMID:32581362|PMID:3785322|PMID:8081008|PMID:8370581|PMID:8941647 12408063 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:10923 sickle cell anemia ISO RGD:1313078 D RGD:9068941 20220825 MouseDO OMIM:603903 12408063 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1313077 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant | ClinVar Annotator: match by term: Spherocytosis, Recessive PMID:15384986|PMID:24033266|PMID:25741868|PMID:27292444|PMID:28492532|PMID:30976395|PMID:31038472|PMID:31147440|PMID:31333484|PMID:31723846|PMID:8941647 12408063 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1313077 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Recessive PMID:15384986|PMID:24033266|PMID:25741868|PMID:27292444|PMID:28492532|PMID:31038472|PMID:31147440|PMID:31333484|PMID:31723846|PMID:8941647 12408063 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1313077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12408063 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:2355 anemia ISO RGD:1313077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868|PMID:31038472|PMID:31723846|PMID:32581362 12408063 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:2373 hereditary elliptocytosis ISO RGD:1313077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Elliptocytosis PMID:25741868|PMID:28492532 12408063 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:583 hemolytic anemia ISO RGD:1313077 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:25741868|PMID:28492532|PMID:32581362 12408063 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:589 congenital hemolytic anemia ISO RGD:1313077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868|PMID:26002053|PMID:28492532 12408063 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:630 genetic disease ISO RGD:1313077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31040790|PMID:31723846 12408063 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:9000212 Hereditary Pyropoikilocytosis ISO RGD:1313077 D RGD:7240710 20180130 OMIM 12408063 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:9000212 Hereditary Pyropoikilocytosis ISO RGD:1313077 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary PMID:1191563|PMID:15071791|PMID:15384986|PMID:1541680|PMID:16150946|PMID:1638030|PMID:1642244|PMID:16730867|PMID:1679439|PMID:18218854|PMID:1845156|PMID:18815189|PMID:2043465|PMID:21212007|PMID:23241237|PMID:2328319|PMID:2346729|PMID:24033266|PMID:2567189|PMID:2568862|PMID:25741868|PMID:26002053|PMID:26467025|PMID:27292444|PMID:27667160|PMID:2794061|PMID:28090778|PMID:28298237|PMID:28492532|PMID:29729090|PMID:30317022|PMID:30393954|PMID:31038472|PMID:31147440|PMID:31286676|PMID:31333484|PMID:31723846|PMID:32581362|PMID:3597773|PMID:3708157|PMID:3785322|PMID:3922449|PMID:4027386|PMID:4077050|PMID:6236232|PMID:7074218|PMID:8068958|PMID:8081008|PMID:8370581|PMID:8434258|PMID:8435324|PMID:8444470|PMID:8790144|PMID:8857939|PMID:8941647|PMID:9192783|PMID:9746802 12408063 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:9000941 Elliptocytosis 2 ISO RGD:1313077 D RGD:7240710 20180130 OMIM 12408063 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:9000941 Elliptocytosis 2 ISO RGD:1313077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE | ClinVar Annotator: match by term: Elliptocytosis 2 PMID:1191563|PMID:15071791|PMID:15384986|PMID:1541680|PMID:16150946|PMID:1638030|PMID:1642244|PMID:16730867|PMID:1679439|PMID:18218854|PMID:1845156|PMID:18783249|PMID:1878597|PMID:18815189|PMID:19593814|PMID:20197550|PMID:2043465|PMID:21212007|PMID:23241237|PMID:2328319|PMID:2346729|PMID:2384601|PMID:23974198|PMID:24033266|PMID:2567189|PMID:2568861|PMID:25741868|PMID:26002053|PMID:26467025|PMID:27292444|PMID:27667160|PMID:2794061|PMID:28090778|PMID:28492532|PMID:2895677|PMID:29729090|PMID:30317022|PMID:30393954|PMID:31038472|PMID:31130284|PMID:31147440|PMID:31286676|PMID:31333484|PMID:31723846|PMID:32266426|PMID:32581362|PMID:32641076|PMID:3597773|PMID:3708157|PMID:3785322|PMID:3922449|PMID:4027386|PMID:4077050|PMID:7074218|PMID:8068958|PMID:8081008|PMID:8370581|PMID:8434258|PMID:8435324|PMID:8444470|PMID:8490186|PMID:8790144|PMID:8857939|PMID:8941647|PMID:9192783 12408063 SPTA1 spectrin alpha, erythrocytic 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12408119 MFRP membrane frizzled-related protein gene DOID:0060017 CD3epsilon deficiency ISO RGD:1316695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12408119 MFRP membrane frizzled-related protein gene DOID:0060835 isolated microphthalmia 6 ISO RGD:1316695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 6 PMID:19169412|PMID:25741868|PMID:28492532 12408119 MFRP membrane frizzled-related protein gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1316695 D RGD:7240710 20180130 OMIM 12408119 MFRP membrane frizzled-related protein gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1316695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen PMID:12140190|PMID:1258954|PMID:15976030|PMID:16199547|PMID:17167404|PMID:17576681|PMID:18554571|PMID:18648522|PMID:19169412|PMID:19753314|PMID:20361016|PMID:21670352|PMID:22142163|PMID:22605927|PMID:22892318|PMID:23112574|PMID:23127749|PMID:23143909|PMID:23742260|PMID:24088041|PMID:24531000|PMID:25097241|PMID:25412400|PMID:25741868|PMID:26583794|PMID:26633545|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29170418|PMID:29450879|PMID:30181649|PMID:30653986|PMID:31106028|PMID:31992737|PMID:32052405|PMID:32118495|PMID:32830442|PMID:32996714|PMID:33203948|PMID:9536098 12408119 MFRP membrane frizzled-related protein gene DOID:0060869 late-onset retinal degeneration ISO RGD:1316695 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Late-onset retinal degeneration | ClinVar Annotator: match by term: RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT PMID:12140190|PMID:12944416|PMID:15976030|PMID:16199547|PMID:18648522|PMID:19169412|PMID:20361016|PMID:22142163|PMID:22892318|PMID:23289492|PMID:24531000|PMID:25097241|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28939808|PMID:29847639|PMID:33203948|PMID:33949280 12408119 MFRP membrane frizzled-related protein gene DOID:0080634 nanophthalmos ISO RGD:1316695 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nanophthalmia PMID:25412400|PMID:25741868|PMID:26583794|PMID:28492532|PMID:29170418|PMID:30181649 12408119 MFRP membrane frizzled-related protein gene DOID:0080690 RASopathy ISO RGD:1316695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12408119 MFRP membrane frizzled-related protein gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1316695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12408119 MFRP membrane frizzled-related protein gene DOID:0111971 immunodeficiency 18 ISO RGD:1316695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12408119 MFRP membrane frizzled-related protein gene DOID:0111972 immunodeficiency 19 ISO RGD:1316695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12408119 MFRP membrane frizzled-related protein gene DOID:0111973 immunodeficiency 17 ISO RGD:1316695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12408119 MFRP membrane frizzled-related protein gene DOID:10584 retinitis pigmentosa ISO RGD:1316695 D RGD:9068941 20200609 RGD DNA:deletio:exon:c.498delC(P.166PfsX26)(human) PMID:22605927|REF_RGD_ID:11553921 12408119 MFRP membrane frizzled-related protein gene DOID:10629 microphthalmia ISO RGD:1316695 D RGD:9068941 20200609 RGD DNA:nonsense mutations:exons:c.271C>T,c.498dupC(human) PMID:23742260|REF_RGD_ID:11553922 12408119 MFRP membrane frizzled-related protein gene DOID:11105 fundus albipunctatus ISO RGD:1620492 D RGD:9068941 20220825 MouseDO OMIM:136880 12408119 MFRP membrane frizzled-related protein gene DOID:5419 schizophrenia ISO RGD:1316695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12408119 MFRP membrane frizzled-related protein gene DOID:630 genetic disease ISO RGD:1316695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12408119 MFRP membrane frizzled-related protein gene DOID:8466 retinal degeneration ISO RGD:1316695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:18648522|PMID:19169412|PMID:22892318|PMID:24531000|PMID:25741868|PMID:28492532 12408119 MFRP membrane frizzled-related protein gene DOID:8466 retinal degeneration treatment ISO RGD:1620492 D RGD:9068941 20200609 RGD PMID:22142163|REF_RGD_ID:11553878 12408119 MFRP membrane frizzled-related protein gene DOID:8501 fundus dystrophy ISO RGD:1316695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12140190|PMID:12944416|PMID:15976030|PMID:16199547|PMID:20361016|PMID:22142163|PMID:23289492|PMID:24531000|PMID:25097241|PMID:25326637|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28939808|PMID:29847639|PMID:31992737|PMID:32036094 12408119 MFRP membrane frizzled-related protein gene DOID:9002122 Nanophthalmos 2 ISO RGD:1316695 D RGD:7240710 20180130 OMIM 12408119 MFRP membrane frizzled-related protein gene DOID:9002122 Nanophthalmos 2 ISO RGD:1316695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nanophthalmos 2 PMID:12140190|PMID:1258954|PMID:15976030|PMID:17167404|PMID:18554571|PMID:19753314|PMID:20361016|PMID:22605927|PMID:23112574|PMID:23143909|PMID:28492532|PMID:32996714 12408119 MFRP membrane frizzled-related protein gene DOID:9002594 High Hyperopia ISO RGD:1316695 D RGD:9068941 20200609 RGD DNA:missense, deletion, duplication mutations:cds: PMID:26583794|REF_RGD_ID:11076374 12408119 MFRP membrane frizzled-related protein gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1316695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12408119 MFRP membrane frizzled-related protein gene DOID:9007661 Dwarfism ISO RGD:1316695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12408136 AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase gene DOID:1059 intellectual disability ISO RGD:1322778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12408136 AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase gene DOID:12704 ataxia telangiectasia ISO RGD:1322778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12408136 AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase gene DOID:630 genetic disease ISO RGD:1322778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408136 AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12408146 ZC3H18 zinc finger CCCH-type containing 18 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1602304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12408146 ZC3H18 zinc finger CCCH-type containing 18 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1602304 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12408146 ZC3H18 zinc finger CCCH-type containing 18 gene DOID:14780 KBG syndrome ISO RGD:1602304 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 12408146 ZC3H18 zinc finger CCCH-type containing 18 gene DOID:630 genetic disease ISO RGD:1602304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408146 ZC3H18 zinc finger CCCH-type containing 18 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1602304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12408175 UOX urate oxidase gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:732386 D RGD:9068941 20220825 MouseDO OMIM:125800 | OMIM:304800 12408175 UOX urate oxidase gene DOID:1920 hyperuricemia ISO RGD:732386 D RGD:9068941 20220825 MouseDO 12408175 UOX urate oxidase gene DOID:3021 acute kidney failure ISO RGD:1343488 D RGD:9068941 20201127 CTD CTD Direct Evidence: therapeutic PMID:16313266 12408175 UOX urate oxidase gene DOID:5119 ovarian cyst ISO RGD:1343488 D RGD:9068941 20201127 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12408175 UOX urate oxidase gene DOID:9003827 Tumor Lysis Syndrome ISO RGD:1343488 D RGD:9068941 20201203 CTD CTD Direct Evidence: therapeutic PMID:16313266 12408175 UOX urate oxidase gene DOID:9008760 Oliguria ISO RGD:1343488 D RGD:9068941 20201127 CTD CTD Direct Evidence: therapeutic PMID:16313266 12408187 ACOT4 acyl-CoA thioesterase 4 gene DOID:1059 intellectual disability ISO RGD:1605006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild 12408187 ACOT4 acyl-CoA thioesterase 4 gene DOID:630 genetic disease ISO RGD:1605006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408203 FAM117B family with sequence similarity 117 member B gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1317004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12408203 FAM117B family with sequence similarity 117 member B gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1317004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12408203 FAM117B family with sequence similarity 117 member B gene DOID:14557 primary pulmonary hypertension ISO RGD:1317004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12408203 FAM117B family with sequence similarity 117 member B gene DOID:630 genetic disease ISO RGD:1317004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408203 FAM117B family with sequence similarity 117 member B gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1317004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12408203 FAM117B family with sequence similarity 117 member B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12408203 FAM117B family with sequence similarity 117 member B gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1317004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12408217 DNAAF8 dynein axonemal assembly factor 8 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12408217 DNAAF8 dynein axonemal assembly factor 8 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1604523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 12408217 DNAAF8 dynein axonemal assembly factor 8 gene DOID:1826 epilepsy ISO RGD:1604523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12408217 DNAAF8 dynein axonemal assembly factor 8 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604523 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12408217 DNAAF8 dynein axonemal assembly factor 8 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1604523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12408234 RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:736416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12408234 RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:0110255 cataract 5 multiple types ISO RGD:736416 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 12408234 RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:3908 lung non-small cell carcinoma ISO RGD:736416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17195088 12408234 RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:6000 congestive heart failure ISO RGD:736416 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart PMID:18056528|REF_RGD_ID:2311701 12408234 RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:630 genetic disease ISO RGD:736416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408234 RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:9000064 Cardiac Arrhythmias ISO RGD:736417 D RGD:9068941 20200609 RGD PMID:17525370|REF_RGD_ID:2311702 12408234 RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:9003936 Cardiomegaly ISO RGD:736416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18056528 12408234 RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:9003936 Cardiomegaly ISO RGD:736417 D RGD:9068941 20200609 RGD PMID:18056528|REF_RGD_ID:2311701 12408234 RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:9007692 Insulin Resistance ISO RGD:736416 D RGD:9068941 20200609 RGD PMID:16537411|REF_RGD_ID:2311703 12408234 RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:9008939 Breast Neoplasms ISO RGD:736416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17195088 12408234 RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:736416 D RGD:9068941 20200609 RGD DNA:repeat:intron (human) PMID:10024077|REF_RGD_ID:2311705 12408234 RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:736416 D RGD:9068941 20200609 RGD associated with Obesity;DNA:polymorphism:intron:4681C>T (human) PMID:15161552|REF_RGD_ID:2311704 12408242 CACNG8 calcium voltage-gated channel auxiliary subunit gamma 8 gene DOID:10939 antisocial personality disorder ISO RGD:732323 D RGD:9068941 20220825 MouseDO 12408242 CACNG8 calcium voltage-gated channel auxiliary subunit gamma 8 gene DOID:12930 dilated cardiomyopathy ISO RGD:732322 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:left ventricule: PMID:26710323|REF_RGD_ID:11353143 12408242 CACNG8 calcium voltage-gated channel auxiliary subunit gamma 8 gene DOID:630 genetic disease ISO RGD:732322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408249 FAM3C FAM3 metabolism regulating signaling molecule C gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12408249 FAM3C FAM3 metabolism regulating signaling molecule C gene DOID:630 genetic disease ISO RGD:1345832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408262 STOM stomatin gene DOID:630 genetic disease ISO RGD:1312947 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12408271 TMEM238 transmembrane protein 238 gene DOID:630 genetic disease ISO RGD:5488447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408278 PPP1R12C protein phosphatase 1 regulatory subunit 12C gene DOID:630 genetic disease ISO RGD:1343542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408318 NANOS1 nanos C2HC-type zinc finger 1 gene DOID:0070171 spermatogenic failure 12 ISO RGD:1317831 D RGD:7240710 20180130 OMIM 12408318 NANOS1 nanos C2HC-type zinc finger 1 gene DOID:1790 malignant mesothelioma ISO RGD:1317831 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12408318 NANOS1 nanos C2HC-type zinc finger 1 gene DOID:630 genetic disease ISO RGD:1317831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408330 LOC100686959 trace amine-associated receptor 2 gene DOID:630 genetic disease ISO RGD:1606827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408332 PSMC1 proteasome 26S subunit, ATPase 1 gene DOID:0080054 achondrogenesis type IA ISO RGD:734425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12408332 PSMC1 proteasome 26S subunit, ATPase 1 gene DOID:0081324 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss ISO RGD:734425 D RGD:7240710 20221221 OMIM 12408332 PSMC1 proteasome 26S subunit, ATPase 1 gene DOID:0081324 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss ISO RGD:734425 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss PMID:35861243 12408332 PSMC1 proteasome 26S subunit, ATPase 1 gene DOID:10283 prostate cancer ISO RGD:734425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12408332 PSMC1 proteasome 26S subunit, ATPase 1 gene DOID:630 genetic disease ISO RGD:734425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408347 PPEF1 protein phosphatase with EF-hand domain 1 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1606579 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12408347 PPEF1 protein phosphatase with EF-hand domain 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12408347 PPEF1 protein phosphatase with EF-hand domain 1 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1606579 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12408347 PPEF1 protein phosphatase with EF-hand domain 1 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1606579 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12408347 PPEF1 protein phosphatase with EF-hand domain 1 gene DOID:12849 autistic disorder ISO RGD:1606579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12408347 PPEF1 protein phosphatase with EF-hand domain 1 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1606579 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12408347 PPEF1 protein phosphatase with EF-hand domain 1 gene DOID:630 genetic disease ISO RGD:1606579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408347 PPEF1 protein phosphatase with EF-hand domain 1 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:1606579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:17172462|PMID:20591708|PMID:21914562|PMID:22473288|PMID:28492532|PMID:9618178 12408347 PPEF1 protein phosphatase with EF-hand domain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12408373 COL10A1 collagen type X alpha 1 chain gene DOID:0060163 body dysmorphic disorder ISO RGD:735281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 12408373 COL10A1 collagen type X alpha 1 chain gene DOID:0080021 Schmid metaphyseal chondrodysplasia ISO RGD:735281 D RGD:7240710 20180130 OMIM 12408373 COL10A1 collagen type X alpha 1 chain gene DOID:0080021 Schmid metaphyseal chondrodysplasia ISO RGD:735281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE PMID:10721676|PMID:10991694|PMID:11805116|PMID:12554676|PMID:12584438|PMID:15695517|PMID:15880705|PMID:16088909|PMID:17403716|PMID:20872587|PMID:25741868|PMID:28492532|PMID:29234170|PMID:30202406|PMID:30408610|PMID:34423584|PMID:7607655|PMID:7749409|PMID:7936797|PMID:8004099|PMID:8012364|PMID:8220429|PMID:8304336|PMID:8554571|PMID:8782043|PMID:8986632|PMID:9067753|PMID:9525992|PMID:9708440|PMID:9837818|PMID:9852679|PMID:9920912 12408373 COL10A1 collagen type X alpha 1 chain gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:735281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12408373 COL10A1 collagen type X alpha 1 chain gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:735281 D RGD:9068941 20200609 RGD Schmid metaphyseal chondrodysplasia, OMIM:156500;DNA:deletion mutations, missense mutation: :1856delC, 1992delCT, p.C591R PMID:8004099|REF_RGD_ID:1600880 12408373 COL10A1 collagen type X alpha 1 chain gene DOID:3910 lung adenocarcinoma ISO RGD:735281 D RGD:9068941 20210924 RGD mRNA:increased expression:lung PMID:33324550|REF_RGD_ID:150429752 12408373 COL10A1 collagen type X alpha 1 chain gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:735281 D RGD:9068941 20210924 RGD PMID:33324550|REF_RGD_ID:150429752 12408373 COL10A1 collagen type X alpha 1 chain gene DOID:630 genetic disease ISO RGD:735281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12408373 COL10A1 collagen type X alpha 1 chain gene DOID:90 degenerative disc disease ISO RGD:2371 D RGD:9068941 20200609 RGD PMID:20948465|REF_RGD_ID:8661231 12408373 COL10A1 collagen type X alpha 1 chain gene DOID:9000073 Metaphyseal Chondrodysplasia ISO RGD:735281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia PMID:25741868|PMID:28492532 12408373 COL10A1 collagen type X alpha 1 chain gene DOID:9006041 Osteoarthritis, Hip ISO RGD:2371 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cartilage PMID:22670655|REF_RGD_ID:10043109 12408373 COL10A1 collagen type X alpha 1 chain gene DOID:9009121 lung metastasis ameliorates ISO RGD:735281 D RGD:9068941 20210924 RGD associated with H1299 cell PMID:33324550|REF_RGD_ID:150429752 12408380 MIR143 microRNA mir-143 gene DOID:0060058 lymphoma ISO RGD:1346221 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28736328 12408380 MIR143 microRNA mir-143 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346221 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12408380 MIR143 microRNA mir-143 gene DOID:0080685 aortic dissection ISO RGD:1346221 D RGD:9068941 20220929 RGD miRNA:decreased expression:aorta (human) PMID:28167124|PMID:30787994|REF_RGD_ID:155260287|REF_RGD_ID:155260309 12408380 MIR143 microRNA mir-143 gene DOID:10941 intracranial aneurysm ISO RGD:1346221 D RGD:9068941 20230202 RGD RNA:decreased expression:artery PMID:32602008|REF_RGD_ID:155882593 12408380 MIR143 microRNA mir-143 gene DOID:10941 intracranial aneurysm ISO RGD:1346221 D RGD:9068941 20230202 RGD RNA:decreased expression:serum PMID:30201338|REF_RGD_ID:155883158 12408380 MIR143 microRNA mir-143 gene DOID:13580 cholestasis ISO RGD:1346221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30125006 12408380 MIR143 microRNA mir-143 gene DOID:1612 breast cancer ISO RGD:1346221 D RGD:9068941 20220722 RGD RNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32104069|REF_RGD_ID:153297766 12408380 MIR143 microRNA mir-143 gene DOID:219 colon cancer disease_progression ISO RGD:1346221 D RGD:9068941 20220722 RGD RNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32104069|REF_RGD_ID:153297766 12408380 MIR143 microRNA mir-143 gene DOID:3021 acute kidney failure ISO RGD:1346221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 12408380 MIR143 microRNA mir-143 gene DOID:5844 myocardial infarction ISO RGD:1608330 D RGD:9068941 20230202 RGD RNA:increased expression:myocardium: PMID:28887629|REF_RGD_ID:155882580 12408380 MIR143 microRNA mir-143 gene DOID:5844 myocardial infarction ISO RGD:2325566 D RGD:9068941 20230202 RGD RNA:increased expression:plasma, left ventricle: PMID:29728596|REF_RGD_ID:155882581 12408380 MIR143 microRNA mir-143 gene DOID:6000 congestive heart failure severity ISO RGD:1346221 D RGD:9068941 20230202 RGD PMID:29728596|REF_RGD_ID:155882581 12408380 MIR143 microRNA mir-143 gene DOID:707 B-cell lymphoma ISO RGD:1346221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892514 12408380 MIR143 microRNA mir-143 gene DOID:824 periodontitis severity ISO RGD:1346221 D RGD:9068941 20230202 RGD PMID:31021403|REF_RGD_ID:155883167 12408380 MIR143 microRNA mir-143 gene DOID:8725 vascular dementia exacerbates ISO RGD:2325566 D RGD:9068941 20230202 RGD PMID:36459592|REF_RGD_ID:155882588 12408380 MIR143 microRNA mir-143 gene DOID:8725 vascular dementia treatment ISO RGD:1346221 D RGD:9068941 20230202 RGD PMID:36459592|REF_RGD_ID:155882588 12408380 MIR143 microRNA mir-143 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1346221 D RGD:9068941 20230202 RGD RNA:increased expression:pulmonary smooth muscle cell: PMID:26311719|REF_RGD_ID:11537224 12408380 MIR143 microRNA mir-143 gene DOID:9001820 Pulmonary Arterial Hypertension ameliorates ISO RGD:1608330 D RGD:9068941 20230202 RGD PMID:26311719|REF_RGD_ID:11537224 12408380 MIR143 microRNA mir-143 gene DOID:9002170 Experimental Neoplasms ISO RGD:1346221 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28736328|PMID:31152816 12408380 MIR143 microRNA mir-143 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1346221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892514 12408380 MIR143 microRNA mir-143 gene DOID:9002371 Cardiotoxicity ameliorates ISO RGD:1608330 D RGD:9068941 20230202 RGD PMID:32170053|REF_RGD_ID:155883163 12408380 MIR143 microRNA mir-143 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12408380 MIR143 microRNA mir-143 gene DOID:9004484 Sepsis exacerbates ISO RGD:2325566 D RGD:9068941 20230202 RGD PMID:30546393|REF_RGD_ID:155883166 12408380 MIR143 microRNA mir-143 gene DOID:9006474 Arterial Occlusive Diseases treatment ISO RGD:1346221 D RGD:9068941 20230202 RGD PMID:28057086|REF_RGD_ID:155883157 12408380 MIR143 microRNA mir-143 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346221 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12408380 MIR143 microRNA mir-143 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30125006 12408380 MIR143 microRNA mir-143 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1346221 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26721309 12408380 MIR143 microRNA mir-143 gene DOID:9007702 Carcinogenesis ISO RGD:1346221 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28736328 12408380 MIR143 microRNA mir-143 gene DOID:9256 colorectal cancer ISO RGD:1346221 D RGD:9068941 20220825 RGD mRNA:decreased expression:colon (human) PMID:31245295|REF_RGD_ID:153344552 12408455 LY6G5C lymphocyte antigen 6 family member G5C gene DOID:0050553 JMP syndrome ISO RGD:1346509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12408455 LY6G5C lymphocyte antigen 6 family member G5C gene DOID:11372 megacolon ISO RGD:1346509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12408455 LY6G5C lymphocyte antigen 6 family member G5C gene DOID:630 genetic disease ISO RGD:1346509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408462 NRDC nardilysin convertase gene DOID:630 genetic disease ISO RGD:731928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408498 MIEN1 migration and invasion enhancer 1 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1315438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 12408498 MIEN1 migration and invasion enhancer 1 gene DOID:630 genetic disease ISO RGD:1315438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408506 KCTD17 potassium channel tetramerization domain containing 17 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1353287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12408506 KCTD17 potassium channel tetramerization domain containing 17 gene DOID:0090033 myoclonic dystonia ISO RGD:1353287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12408506 KCTD17 potassium channel tetramerization domain containing 17 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1353287 D RGD:7240710 20180130 OMIM 12408506 KCTD17 potassium channel tetramerization domain containing 17 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1353287 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:17576681|PMID:18570303|PMID:18799783|PMID:22213678|PMID:25741868|PMID:25983243|PMID:28492532|PMID:9536098 12408506 KCTD17 potassium channel tetramerization domain containing 17 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1353287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12408506 KCTD17 potassium channel tetramerization domain containing 17 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1353287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12408506 KCTD17 potassium channel tetramerization domain containing 17 gene DOID:630 genetic disease ISO RGD:1353287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12408517 KLHL3 kelch like family member 3 gene DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 ISO RGD:1346820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant PMID:24033266|PMID:25741868|PMID:28492532 12408517 KLHL3 kelch like family member 3 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1346820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12408517 KLHL3 kelch like family member 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346820 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12408517 KLHL3 kelch like family member 3 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1346820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12408517 KLHL3 kelch like family member 3 gene DOID:1969 cerebral palsy ISO RGD:1346820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12408517 KLHL3 kelch like family member 3 gene DOID:4479 pseudohypoaldosteronism ISO RGD:1346820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperpotassemia and hypertension familial PMID:22266938|PMID:22406640|PMID:24821705|PMID:25741868|PMID:25925082|PMID:28492532 12408517 KLHL3 kelch like family member 3 gene DOID:630 genetic disease ISO RGD:1346820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24641320|PMID:25741868|PMID:28492532 12408517 KLHL3 kelch like family member 3 gene DOID:9001548 Pseudohypoaldosteronism, Type IID ISO RGD:1346820 D RGD:7240710 20180130 OMIM 12408517 KLHL3 kelch like family member 3 gene DOID:9001548 Pseudohypoaldosteronism, Type IID ISO RGD:1346820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FAMILIAL HYPERKALEMIC HYPERTENSION PMID:22266938|PMID:22406640|PMID:24033266|PMID:24821705|PMID:25741868|PMID:25741906|PMID:25925082|PMID:28492532 12408517 KLHL3 kelch like family member 3 gene DOID:9002890 Pseudohypoaldosteronism, Type IIA ISO RGD:1346820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome PMID:22266938|PMID:22406640|PMID:24821705|PMID:25741868|PMID:25925082|PMID:28492532 12408517 KLHL3 kelch like family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12408517 KLHL3 kelch like family member 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346820 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12408556 C15H1orf50 chromosome 15 C1orf50 homolog gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1350429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12408556 C15H1orf50 chromosome 15 C1orf50 homolog gene DOID:630 genetic disease ISO RGD:1350429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408565 RHBDL2 rhomboid like 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1317987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12408565 RHBDL2 rhomboid like 2 gene DOID:630 genetic disease ISO RGD:1317987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408587 SNX27 sorting nexin 27 gene DOID:0080422 Dravet syndrome ISO RGD:1349647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:17576681|PMID:25894286|PMID:28492532|PMID:31957018|PMID:9536098 12408587 SNX27 sorting nexin 27 gene DOID:0111940 immunodeficiency 42 ISO RGD:1349647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12408587 SNX27 sorting nexin 27 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1349647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12408587 SNX27 sorting nexin 27 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1349647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12408587 SNX27 sorting nexin 27 gene DOID:1540 parathyroid carcinoma ISO RGD:1349647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12408587 SNX27 sorting nexin 27 gene DOID:5812 MHC class II deficiency ISO RGD:1349647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12408587 SNX27 sorting nexin 27 gene DOID:630 genetic disease ISO RGD:1349647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12408587 SNX27 sorting nexin 27 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12408603 EGLN2 egl-9 family hypoxia inducible factor 2 gene DOID:0050742 nicotine dependence ISO RGD:736328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20418890 12408603 EGLN2 egl-9 family hypoxia inducible factor 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:736328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12408603 EGLN2 egl-9 family hypoxia inducible factor 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:736328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12408603 EGLN2 egl-9 family hypoxia inducible factor 2 gene DOID:2340 craniosynostosis ISO RGD:736328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12408603 EGLN2 egl-9 family hypoxia inducible factor 2 gene DOID:4450 renal cell carcinoma ISO RGD:736328 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:20978146|REF_RGD_ID:13504705 12408603 EGLN2 egl-9 family hypoxia inducible factor 2 gene DOID:630 genetic disease ISO RGD:736328 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12408603 EGLN2 egl-9 family hypoxia inducible factor 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:736328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12408603 EGLN2 egl-9 family hypoxia inducible factor 2 gene DOID:9269 maple syrup urine disease ISO RGD:736328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12408622 SPPL2B signal peptide peptidase like 2B gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1601988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 12408622 SPPL2B signal peptide peptidase like 2B gene DOID:630 genetic disease ISO RGD:1601988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408622 SPPL2B signal peptide peptidase like 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12408657 CD1E CD1e molecule gene DOID:13938 amenorrhea ISO RGD:1352820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12408657 CD1E CD1e molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1352820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12408657 CD1E CD1e molecule gene DOID:630 genetic disease ISO RGD:1352820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408657 CD1E CD1e molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12408667 OR10J14 olfactory receptor family 10 subfamily J member 14 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1349251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12408667 OR10J14 olfactory receptor family 10 subfamily J member 14 gene DOID:1540 parathyroid carcinoma ISO RGD:1349251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12408667 OR10J14 olfactory receptor family 10 subfamily J member 14 gene DOID:630 genetic disease ISO RGD:1349251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408667 OR10J14 olfactory receptor family 10 subfamily J member 14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12408670 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:0050534 congenital stationary night blindness ISO RGD:1312607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive | ClinVar Annotator: match by term: Congenital stationary night blindness PMID:17576681|PMID:19878917|PMID:19896113|PMID:19966281|PMID:20300565|PMID:25741868|PMID:27803854|PMID:28041643|PMID:28492532|PMID:29074561|PMID:9536098 12408670 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1312607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:19050728|PMID:19289393|PMID:21844811|PMID:23044707|PMID:25255310|PMID:25741868|PMID:27569545 12408670 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:1312607 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome PMID:31690835 12408670 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:0110867 congenital stationary night blindness 1C ISO RGD:1312607 D RGD:7240710 20180130 OMIM 12408670 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:0110867 congenital stationary night blindness 1C ISO RGD:1312607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1C PMID:16199547|PMID:19436059|PMID:19878917|PMID:19896109|PMID:19896113|PMID:19966281|PMID:20300565|PMID:22277662|PMID:25307992|PMID:25741868|PMID:25999674|PMID:26493165|PMID:26872967|PMID:27803854|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29522070|PMID:30718709 12408670 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1312607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:30718709 12408670 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:1059 intellectual disability ISO RGD:1312607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12408670 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:12849 autistic disorder ISO RGD:1312607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12408670 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:3070 high grade glioma ISO RGD:1312607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12408670 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:5419 schizophrenia ISO RGD:1312607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12408670 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:630 genetic disease ISO RGD:1312607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12408670 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:8501 fundus dystrophy ISO RGD:1312607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:19896109|PMID:19896113|PMID:19966281|PMID:20300565|PMID:23714322|PMID:28492532|PMID:28559085|PMID:29522070 12408670 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12408670 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1312607 D RGD:9068941 20200609 RGD DNA:SNP:intron:g.59080C>T (rs11070811) (human) PMID:21439949|REF_RGD_ID:7175561 12408670 TRPM1 transient receptor potential cation channel subfamily M member 1 gene DOID:9256 colorectal cancer ISO RGD:1312607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 12408701 ZNF263 zinc finger protein 263 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1316415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12408701 ZNF263 zinc finger protein 263 gene DOID:1826 epilepsy ISO RGD:1316415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12408701 ZNF263 zinc finger protein 263 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1316415 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12408701 ZNF263 zinc finger protein 263 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1316415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12408701 ZNF263 zinc finger protein 263 gene DOID:630 genetic disease ISO RGD:1316415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408714 SASS6 SAS-6 centriolar assembly protein gene DOID:0070279 primary autosomal recessive microcephaly 14 ISO RGD:1603551 D RGD:7240710 20180130 OMIM 12408714 SASS6 SAS-6 centriolar assembly protein gene DOID:0070279 primary autosomal recessive microcephaly 14 ISO RGD:1603551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 14, primary, autosomal recessive PMID:24951542|PMID:25741868|PMID:30639237 12408714 SASS6 SAS-6 centriolar assembly protein gene DOID:630 genetic disease ISO RGD:1603551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21273447|PMID:25741868 12408714 SASS6 SAS-6 centriolar assembly protein gene DOID:9269 maple syrup urine disease ISO RGD:1603551 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 12408738 ANKRD13B ankyrin repeat domain 13B gene DOID:0111253 neurofibromatosis 1 ISO RGD:1606740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 12408738 ANKRD13B ankyrin repeat domain 13B gene DOID:630 genetic disease ISO RGD:1606740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408758 BRD9 bromodomain containing 9 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1316511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 12408758 BRD9 bromodomain containing 9 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1316511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 12408758 BRD9 bromodomain containing 9 gene DOID:630 genetic disease ISO RGD:1316511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408758 BRD9 bromodomain containing 9 gene DOID:8541 Sezary's disease ISO RGD:1316511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 12408758 BRD9 bromodomain containing 9 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1316511 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 12408777 NOTCH3 notch receptor 3 gene DOID:0060041 autism spectrum disorder ISO RGD:732750 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12408777 NOTCH3 notch receptor 3 gene DOID:0060669 cerebral cavernous malformation ISO RGD:732750 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation PMID:25741868|PMID:28492532 12408777 NOTCH3 notch receptor 3 gene DOID:0080109 infantile myofibromatosis ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12408777 NOTCH3 notch receptor 3 gene DOID:0111035 CADASIL 1 ISO RGD:732750 D RGD:7240710 20180130 OMIM 12408777 NOTCH3 notch receptor 3 gene DOID:0111035 CADASIL 1 ISO RGD:732750 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 | ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | ClinVar Annotator: match by term: Recurrent subcortical infarcts PMID:10227618|PMID:10371548|PMID:10712431|PMID:10716263|PMID:10802804|PMID:10854111|PMID:10969905|PMID:11102981|PMID:11486103|PMID:11559313|PMID:11571335|PMID:11706120|PMID:11715067|PMID:11755616|PMID:11757773|PMID:11771160|PMID:11784372|PMID:12136071|PMID:12146805|PMID:12196662|PMID:12395806|PMID:12482954|PMID:12721871|PMID:12754354|PMID:12810003|PMID:12821756|PMID:12821764|PMID:12861102|PMID:14714274|PMID:15229130|PMID:15350543|PMID:15364702|PMID:15378071|PMID:15694192|PMID:15776792|PMID:15827866|PMID:15834039|PMID:15857853|PMID:15981641|PMID:15995828|PMID:16009764|PMID:16193256|PMID:16256149|PMID:16580020|PMID:16717210|PMID:16730748|PMID:16791082|PMID:16864835|PMID:17122431|PMID:17135568|PMID:17218610|PMID:17323840|PMID:17389000|PMID:17390743|PMID:17729386|PMID:17761910|PMID:17879445|PMID:17879447|PMID:18386330|PMID:18386331|PMID:18765654|PMID:18803652|PMID:18948701|PMID:19006080|PMID:19043263|PMID:19080749|PMID:19174371|PMID:19180562|PMID:19242647|PMID:19245392|PMID:19252787|PMID:19293235|PMID:19359623|PMID:19417009|PMID:19488902|PMID:19528524|PMID:19539236|PMID:19542611|PMID:19576955|PMID:19683925|PMID:19825845|PMID:20038773|PMID:20071773|PMID:20167921|PMID:20169447|PMID:20301673|PMID:20851625|PMID:20857162|PMID:20935329|PMID:20981092|PMID:21078731|PMID:21345538|PMID:21387384|PMID:21448560|PMID:21555590|PMID:21616505|PMID:21737310|PMID:21786151|PMID:21852154|PMID:21940951|PMID:22006983|PMID:22019870|PMID:22053260|PMID:22082899|PMID:22153900|PMID:22159056|PMID:22206696|PMID:22218279|PMID:22367839|PMID:22373597|PMID:22623959|PMID:22664156|PMID:22688109|PMID:22795385|PMID:22878905|PMID:22936449|PMID:23025651|PMID:23028706|PMID:23064698|PMID:23412372|PMID:23584202|PMID:23602593|PMID:23623146|PMID:23639391|PMID:23649698|PMID:23844775|PMID:23847153|PMID:24033266|PMID:24086431|PMID:24139282|PMID:24344756|PMID:24425116|PMID:24480794|PMID:24840674|PMID:24844136|PMID:24886907|PMID:24929957|PMID:24936512|PMID:25033846|PMID:25260786|PMID:25326637|PMID:25344745|PMID:25412914|PMID:25578324|PMID:25604251|PMID:25623805|PMID:25692567|PMID:25741868|PMID:25801821|PMID:25819272|PMID:25834748|PMID:25870235|PMID:25914166|PMID:25929831|PMID:25959358|PMID:25973016|PMID:25980907|PMID:25982499|PMID:26002683|PMID:26261665|PMID:26270344|PMID:26305465|PMID:26308724|PMID:26368811|PMID:26467025|PMID:26618768|PMID:26646783|PMID:26671140|PMID:26715087|PMID:26806700|PMID:26843489|PMID:26850715|PMID:26856460|PMID:26889213|PMID:26894465|PMID:26912635|PMID:27174004|PMID:27206574|PMID:27293347|PMID:27350778|PMID:27423596|PMID:27770446|PMID:27844030|PMID:27881154|PMID:27884173|PMID:27890607|PMID:28166811|PMID:28334938|PMID:28341077|PMID:28479817|PMID:28492532|PMID:28534048|PMID:28601945|PMID:28710804|PMID:28815929|PMID:28860774|PMID:28902129|PMID:28991717|PMID:29188607|PMID:29363903|PMID:29449082|PMID:29980472|PMID:30031255|PMID:30032161|PMID:30076350|PMID:30199759|PMID:30279455|PMID:30311053|PMID:30338453|PMID:30355220|PMID:30402942|PMID:30532056|PMID:30656190|PMID:30906334|PMID:30954774|PMID:30956055|PMID:31028544|PMID:31212292|PMID:31418856|PMID:31443546|PMID:31554780|PMID:31792094|PMID:31799216|PMID:31813735|PMID:31915071|PMID:31960911|PMID:31998484|PMID:32055601|PMID:32122318|PMID:32128266|PMID:32172663|PMID:32196841|PMID:32277177|PMID:32387185|PMID:32457593|PMID:32552418|PMID:32573853|PMID:32581362|PMID:32612778|PMID:32732295|PMID:33013620|PMID:33020014|PMID:33091750|PMID:33109952|PMID:33268848|PMID:33310205|PMID:33712516|PMID:33942994|PMID:34008892|PMID:34335700|PMID:34841502|PMID:3484396|PMID:34851492|PMID:8878478|PMID:9388399 12408777 NOTCH3 notch receptor 3 gene DOID:0111036 CADASIL2 ISO RGD:732750 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 PMID:28492532 12408777 NOTCH3 notch receptor 3 gene DOID:0111343 lateral meningocele syndrome ISO RGD:732750 D RGD:7240710 20180130 OMIM 12408777 NOTCH3 notch receptor 3 gene DOID:0111343 lateral meningocele syndrome ISO RGD:732750 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lateral meningocele syndrome PMID:15666314|PMID:21337686|PMID:21448560|PMID:23696373|PMID:24086431|PMID:25394726|PMID:25741868|PMID:26467025|PMID:26754023|PMID:28492532|PMID:9188658 12408777 NOTCH3 notch receptor 3 gene DOID:10024 migraine with aura ISO RGD:732750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Migraine with aura PMID:32581362 12408777 NOTCH3 notch receptor 3 gene DOID:10283 prostate cancer ISO RGD:732750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:15364702|PMID:16328531|PMID:23265383|PMID:25033846|PMID:26308724|PMID:26467025|PMID:7732783 12408777 NOTCH3 notch receptor 3 gene DOID:12783 migraine without aura ISO RGD:732750 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Migraine without aura PMID:12754354|PMID:15229130|PMID:15857853|PMID:20071773|PMID:21940951|PMID:24425116|PMID:24886907|PMID:25412914|PMID:25741868|PMID:26467025|PMID:28334938|PMID:28492532|PMID:31418856|PMID:32277177|PMID:32581362|PMID:34335700|PMID:8878478|PMID:9388399 12408777 NOTCH3 notch receptor 3 gene DOID:13945 CADASIL ISO RGD:732750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | ClinVar Annotator: match by term: Dementia, hereditary multi-infarct type PMID:10371548|PMID:11102981|PMID:11559313|PMID:14714274|PMID:15229130|PMID:15694192|PMID:15834039|PMID:16009764|PMID:16580020|PMID:16717210|PMID:17135568|PMID:19153638|PMID:19242647|PMID:19252787|PMID:19293235|PMID:20038773|PMID:20301673|PMID:20935329|PMID:20975277|PMID:21852154|PMID:22082899|PMID:22259617|PMID:23602593|PMID:23847153|PMID:24139282|PMID:24344756|PMID:24480794|PMID:24840674|PMID:25033846|PMID:25344745|PMID:25623805|PMID:25692567|PMID:25741868|PMID:25914166|PMID:25959358|PMID:26002683|PMID:26270344|PMID:26308724|PMID:26368811|PMID:26467025|PMID:26671140|PMID:27245348|PMID:27881154|PMID:27890607|PMID:28334938|PMID:28492532|PMID:28555127|PMID:29544907|PMID:29980472|PMID:30199759|PMID:30311053|PMID:30656190|PMID:30906334|PMID:31554780|PMID:31792094|PMID:31836585|PMID:31915071|PMID:32055601|PMID:32122318|PMID:32277177|PMID:32457593|PMID:32573853|PMID:33712516|PMID:34352628|PMID:35300531|PMID:8878478 12408777 NOTCH3 notch receptor 3 gene DOID:1596 depressive disorder ISO RGD:732750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Depression PMID:15364702|PMID:16009764|PMID:21616505|PMID:28492532|PMID:32581362 12408777 NOTCH3 notch receptor 3 gene DOID:1749 squamous cell carcinoma ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 12408777 NOTCH3 notch receptor 3 gene DOID:1826 epilepsy ISO RGD:732750 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12408777 NOTCH3 notch receptor 3 gene DOID:3007 breast ductal carcinoma ISO RGD:732750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12408777 NOTCH3 notch receptor 3 gene DOID:3068 glioblastoma ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 12408777 NOTCH3 notch receptor 3 gene DOID:3526 cerebral infarction ISO RGD:732750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ischemic stroke PMID:10371548|PMID:10802804|PMID:10854111|PMID:11102981|PMID:11755616|PMID:15364702|PMID:16009764|PMID:16193256|PMID:17729386|PMID:20301673|PMID:24844136|PMID:25578324|PMID:25623805|PMID:25741868|PMID:25973016|PMID:26308724|PMID:26467025|PMID:26715087|PMID:26843489|PMID:26912635|PMID:27206574|PMID:27890607|PMID:28492532|PMID:28710804|PMID:31915071|PMID:32457593|PMID:32581362|PMID:9388399 12408777 NOTCH3 notch receptor 3 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 12408777 NOTCH3 notch receptor 3 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 12408777 NOTCH3 notch receptor 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21994468 12408777 NOTCH3 notch receptor 3 gene DOID:630 genetic disease ISO RGD:732750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14714274|PMID:19539236|PMID:19855400|PMID:20167921|PMID:22495309|PMID:24000151|PMID:24840674|PMID:24936512|PMID:25394726|PMID:25741868|PMID:25870235|PMID:25914166|PMID:26308724|PMID:26467025|PMID:27844030|PMID:28166811|PMID:28492532|PMID:30032161|PMID:30532056|PMID:33268848|PMID:33310205|PMID:34841502 12408777 NOTCH3 notch receptor 3 gene DOID:6364 migraine ISO RGD:732750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Migraine PMID:25741868 12408777 NOTCH3 notch receptor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12408777 NOTCH3 notch receptor 3 gene DOID:8725 vascular dementia ISO RGD:732750 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:14714274|PMID:15364702|PMID:16009764|PMID:24840674|PMID:25033846|PMID:25741868|PMID:25914166|PMID:26308724|PMID:26467025|PMID:27844030|PMID:28492532|PMID:30032161|PMID:30402942|PMID:30532056|PMID:33268848|PMID:33310205|PMID:34841502 12408777 NOTCH3 notch receptor 3 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:732750 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:22006983|PMID:22153900|PMID:22159056|PMID:24086431|PMID:25741868|PMID:26467025|PMID:26894465|PMID:28492532 12408777 NOTCH3 notch receptor 3 gene DOID:9002746 Infantile Myofibromatosis 2 ISO RGD:732750 D RGD:7240710 20180130 OMIM 12408777 NOTCH3 notch receptor 3 gene DOID:9002746 Infantile Myofibromatosis 2 ISO RGD:732750 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: Myofibromatosis, infantile, 2 PMID:23731542|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32732295 12408777 NOTCH3 notch receptor 3 gene DOID:9003208 Progressive Psychomotor Deterioration ISO RGD:732750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive psychomotor deterioration PMID:32581362 12408777 NOTCH3 notch receptor 3 gene DOID:9004241 Infantile Myofibromatosis 1 ISO RGD:732750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibromatosis, infantile, 1 PMID:23731542 12408777 NOTCH3 notch receptor 3 gene DOID:9004464 Skin Neoplasms ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 12408777 NOTCH3 notch receptor 3 gene DOID:9005172 Lung Neoplasms ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17804716 12408777 NOTCH3 notch receptor 3 gene DOID:9006182 Carotid Artery Injuries ISO RGD:620761 D RGD:9068941 20200609 RGD PMID:11971902|REF_RGD_ID:625426 12408777 NOTCH3 notch receptor 3 gene DOID:9007096 Stroke ISO RGD:732750 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:26467025|PMID:27844030|PMID:28492532|PMID:32581362 12408777 NOTCH3 notch receptor 3 gene DOID:9008939 Breast Neoplasms ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 12408777 NOTCH3 notch receptor 3 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1552400 D RGD:9068941 20220825 MouseDO OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 12408816 TMIGD1 transmembrane and immunoglobulin domain containing 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1604448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 12408816 TMIGD1 transmembrane and immunoglobulin domain containing 1 gene DOID:630 genetic disease ISO RGD:1604448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408859 ZNF365 zinc finger protein 365 gene DOID:0080600 COVID-19 ISO RGD:1605085 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12408920 DSG1 desmoglein 1 gene DOID:0014667 disease of metabolism ISO RGD:1320531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23974871 12408920 DSG1 desmoglein 1 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1320531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:28492532 12408920 DSG1 desmoglein 1 gene DOID:0081108 keratosis palmoplantaris striata 1 ISO RGD:1320531 D RGD:7240710 20180130 OMIM 12408920 DSG1 desmoglein 1 gene DOID:0081108 keratosis palmoplantaris striata 1 ISO RGD:1320531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keratoderma, palmoplantar striate form 1 | ClinVar Annotator: match by term: Palmoplantar keratoderma i, striate, focal, or diffuse PMID:10332028|PMID:11313759|PMID:15897387|PMID:16484817|PMID:19018793|PMID:19157795|PMID:19558595|PMID:23974871|PMID:24033266|PMID:25741868|PMID:27534273|PMID:28492532|PMID:31443639|PMID:7544663 12408920 DSG1 desmoglein 1 gene DOID:0111505 palmoplantar keratoderma-deafness syndrome ISO RGD:1320531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary palmoplantar keratoderma PMID:25741868 12408920 DSG1 desmoglein 1 gene DOID:1059 intellectual disability ISO RGD:1320531 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12408920 DSG1 desmoglein 1 gene DOID:1205 allergic disease ISO RGD:1320531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23974871 12408920 DSG1 desmoglein 1 gene DOID:2723 dermatitis ISO RGD:1320531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23974871 12408920 DSG1 desmoglein 1 gene DOID:630 genetic disease ISO RGD:1320531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12408920 DSG1 desmoglein 1 gene DOID:9001004 Chronic Periodontitis ISO RGD:1320531 D RGD:9068941 20200609 RGD mRNA:decreased expression:gingival tissues PMID:21382035|REF_RGD_ID:6480655 12408920 DSG1 desmoglein 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1309925 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:19500802|REF_RGD_ID:2316254 12408920 DSG1 desmoglein 1 gene DOID:9007380 Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE ISO RGD:1320531 D RGD:7240710 20180130 OMIM 12408920 DSG1 desmoglein 1 gene DOID:9007380 Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE ISO RGD:1320531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | ClinVar Annotator: match by term: SAM SYNDROME PMID:23974871|PMID:24033266|PMID:25741868|PMID:28492532 12408952 RHOB ras homolog family member B gene DOID:0080600 COVID-19 ISO RGD:1351195 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 12408952 RHOB ras homolog family member B gene DOID:1612 breast cancer severity ISO RGD:1351195 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:12237774|REF_RGD_ID:2298874 12408952 RHOB ras homolog family member B gene DOID:1909 melanoma ISO RGD:621309 D RGD:9068941 20200609 RGD PMID:12606940|REF_RGD_ID:704376 12408952 RHOB ras homolog family member B gene DOID:1969 cerebral palsy ISO RGD:1351195 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: RHOB-related disorder PMID:25741868|PMID:32989326 12408952 RHOB ras homolog family member B gene DOID:418 systemic scleroderma ISO RGD:1351195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21750679 12408952 RHOB ras homolog family member B gene DOID:4989 pancreatitis ISO RGD:1351195 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Recurrent pancreatitis PMID:25741868|PMID:32989326 12408952 RHOB ras homolog family member B gene DOID:630 genetic disease ISO RGD:1351195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32989326 12408952 RHOB ras homolog family member B gene DOID:9001962 Avian Sarcoma ISO RGD:621309 D RGD:9068941 20200609 RGD PMID:1710770|REF_RGD_ID:704375 12408957 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:10763 hypertension ISO RGD:2846 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:11882579|REF_RGD_ID:1626447 12408957 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731005 D RGD:9068941 20200609 RGD PMID:12556913|REF_RGD_ID:1358660 12408957 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:12849 autistic disorder ISO RGD:731005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19038234 12408957 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:12995 conduct disorder ISO RGD:731005 D RGD:9068941 20200609 RGD associated with Alcoholism PMID:14714219|REF_RGD_ID:1358661 12408957 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:2030 anxiety disorder ISO RGD:2846 D RGD:9068941 20200609 RGD PMID:12040062|REF_RGD_ID:625756 12408957 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:2468 psychotic disorder ISO RGD:731005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12408957 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:326 ischemia ISO RGD:2846 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:12393100|REF_RGD_ID:1626445 12408957 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:630 genetic disease ISO RGD:731005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408957 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:670 amphetamine abuse ISO RGD:731005 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10780831 12408957 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:2846 D RGD:9068941 20200609 RGD PMID:17542534|REF_RGD_ID:1626451 12408957 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:9000641 Pain ISO RGD:2846 D RGD:9068941 20200609 RGD PMID:16165284|REF_RGD_ID:1626470 12408957 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:9001109 Anorexia ISO RGD:2846 D RGD:9068941 20200609 RGD associated with Sarcoma;protein:increased expression:hypothalamus PMID:15698923|REF_RGD_ID:1626473 12408957 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17509084|PMID:9603521 12408957 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:9006024 Hypotension ISO RGD:731005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9109356 12408957 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:10746 D RGD:9068941 20200609 RGD PMID:11739290|REF_RGD_ID:1626449 12408957 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:9008675 Dyskinesias ISO RGD:2846 D RGD:9068941 20200609 RGD PMID:17452372|REF_RGD_ID:1626453 12408957 HTR1B 5-hydroxytryptamine receptor 1B gene DOID:9970 obesity ISO RGD:2846 D RGD:9068941 20200609 RGD protein:increase expression:arcuate nucleus PMID:10564740|REF_RGD_ID:1626450 12408960 KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:10763 hypertension ISO RGD:2961 D RGD:9068941 20200609 RGD PMID:14551242|REF_RGD_ID:1298970 12408960 KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:10763 hypertension ISO RGD:2961 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta, mesenteric artery PMID:16814121|REF_RGD_ID:10412046 12408960 KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:10763 hypertension ISO RGD:733456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17700361 12408960 KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:10763 hypertension ISO RGD:733456 D RGD:9068941 20200609 RGD PMID:16293791|REF_RGD_ID:1581718 12408960 KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:630 genetic disease ISO RGD:733456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12408960 KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:9004657 Weight Gain ISO RGD:733456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27288421 12408960 KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2961 D RGD:9068941 20200609 RGD protein:decreased expression:aorta, smooth muscle PMID:24589593|REF_RGD_ID:10412030 12408960 KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:9007102 Myocardial Ischemia no_association ISO RGD:733456 D RGD:9068941 20200609 RGD PMID:16155733|REF_RGD_ID:1581719 12408960 KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:9007692 Insulin Resistance ISO RGD:2961 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:aorta, mesenteric artery PMID:21425425|REF_RGD_ID:10412047 12408960 KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:9008282 Diastolic Hypertension, Resistance to ISO RGD:733456 D RGD:7240710 20180130 OMIM 12408960 KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:9008282 Diastolic Hypertension, Resistance to ISO RGD:733456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension, diastolic, resistance to PMID:15057310|PMID:16155733 12408960 KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2961 D RGD:9068941 20200609 RGD protein:decreased expression:aorta PMID:18790848|REF_RGD_ID:10412045 12408972 POLR3B RNA polymerase III subunit B gene DOID:0060794 hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:1351468 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: POLR3-related leukodystrophy | ClinVar Annotator: match by term: Pol III-related leukodystrophy PMID:22036171|PMID:22036172|PMID:22855961|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32180488|PMID:32319736 12408972 POLR3B RNA polymerase III subunit B gene DOID:0060797 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:1351468 D RGD:7240710 20180130 OMIM 12408972 POLR3B RNA polymerase III subunit B gene DOID:0060797 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:1351468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism PMID:17576681|PMID:18851904|PMID:22036171|PMID:22036172|PMID:22855961|PMID:23355746|PMID:24190003|PMID:25133958|PMID:25339210|PMID:25741868|PMID:26011300|PMID:26045207|PMID:26204956|PMID:26478204|PMID:27029625|PMID:27512013|PMID:28492532|PMID:28589944|PMID:29141312|PMID:31221184|PMID:31969655|PMID:32180488|PMID:32319736|PMID:32870266|PMID:34440436|PMID:9536098 12408972 POLR3B RNA polymerase III subunit B gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1351468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:22036172|PMID:22855961|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736 12408972 POLR3B RNA polymerase III subunit B gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1351468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:22036172|PMID:22855961|PMID:23355746|PMID:24190003|PMID:25133958|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27029625|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:32870266|PMID:34440436 12408972 POLR3B RNA polymerase III subunit B gene DOID:1059 intellectual disability ISO RGD:1351468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12408972 POLR3B RNA polymerase III subunit B gene DOID:13938 amenorrhea ISO RGD:1351468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:22855961|PMID:25133958|PMID:25741868|PMID:27029625|PMID:27512013|PMID:28492532|PMID:32870266|PMID:34440436 12408972 POLR3B RNA polymerase III subunit B gene DOID:1921 Klinefelter syndrome ISO RGD:1351468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:22036172|PMID:22855961|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736 12408972 POLR3B RNA polymerase III subunit B gene DOID:630 genetic disease ISO RGD:1351468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:22855961|PMID:25339210|PMID:25741868|PMID:28492532|PMID:9536098 12408972 POLR3B RNA polymerase III subunit B gene DOID:9000624 Charcot-Marie-Tooth Disease Type 1I ISO RGD:1351468 D RGD:7240710 20220223 OMIM 12408972 POLR3B RNA polymerase III subunit B gene DOID:9000624 Charcot-Marie-Tooth Disease Type 1I ISO RGD:1351468 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1I PMID:25741868|PMID:34666706|PMID:35395209 12409008 RNF148 ring finger protein 148 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12409008 RNF148 ring finger protein 148 gene DOID:630 genetic disease ISO RGD:1348165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409035 HSD17B14 hydroxysteroid 17-beta dehydrogenase 14 gene DOID:630 genetic disease ISO RGD:1312097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409035 HSD17B14 hydroxysteroid 17-beta dehydrogenase 14 gene DOID:9002189 High Myopia ISO RGD:1312097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12409057 EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific gene DOID:0111947 immunodeficiency 21 ISO RGD:1604801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:21670465|PMID:22147895|PMID:23223431|PMID:28492532 12409057 EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1604801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28166215 12409057 EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific gene DOID:630 genetic disease ISO RGD:1604801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409057 EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:21670465|PMID:22147895|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532|PMID:31710708 12409057 EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific gene DOID:9270 alkaptonuria ISO RGD:1604801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12409068 VIPR1 vasoactive intestinal peptide receptor 1 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:735637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 12409068 VIPR1 vasoactive intestinal peptide receptor 1 gene DOID:630 genetic disease ISO RGD:735637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409068 VIPR1 vasoactive intestinal peptide receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735637 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12409068 VIPR1 vasoactive intestinal peptide receptor 1 gene DOID:8577 ulcerative colitis ISO RGD:735637 D RGD:9068941 20200609 RGD PMID:17611633|REF_RGD_ID:5685618 12409068 VIPR1 vasoactive intestinal peptide receptor 1 gene DOID:8778 Crohn's disease ISO RGD:735637 D RGD:9068941 20200609 RGD PMID:17611633|REF_RGD_ID:5685618 12409068 VIPR1 vasoactive intestinal peptide receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735637 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12409068 VIPR1 vasoactive intestinal peptide receptor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:11486 D RGD:9068941 20200609 RGD PMID:21129425|REF_RGD_ID:5685622 12409068 VIPR1 vasoactive intestinal peptide receptor 1 gene DOID:9164 achalasia onset ISO RGD:735637 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs437876 (human) PMID:19309439|REF_RGD_ID:5685626 12409090 PHF20 PHD finger protein 20 gene DOID:630 genetic disease ISO RGD:1605683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409090 PHF20 PHD finger protein 20 gene DOID:9007661 Dwarfism ISO RGD:1605683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12409113 LOC478089 general transcription factor IIH subunit 2 gene DOID:13938 amenorrhea ISO RGD:2302830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12409113 LOC478089 general transcription factor IIH subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2302830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12409137 BROX BRO1 domain and CAAX motif containing gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1606705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12409137 BROX BRO1 domain and CAAX motif containing gene DOID:1540 parathyroid carcinoma ISO RGD:1606705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12409137 BROX BRO1 domain and CAAX motif containing gene DOID:630 genetic disease ISO RGD:1606705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409137 BROX BRO1 domain and CAAX motif containing gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12409160 CLINT1 clathrin interactor 1 gene DOID:630 genetic disease ISO RGD:1602726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409181 CFAP52 cilia and flagella associated protein 52 gene DOID:630 genetic disease ISO RGD:1348671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12409181 CFAP52 cilia and flagella associated protein 52 gene DOID:758 situs inversus ISO RGD:1348671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Situs inversus | ClinVar Annotator: match by term: Situs inversus totalis PMID:16199547|PMID:25741868|PMID:28492532|PMID:33139725 12409181 CFAP52 cilia and flagella associated protein 52 gene DOID:9008028 Visceral Heterotaxy 10, Autosomal ISO RGD:1348671 D RGD:7240710 20211110 OMIM 12409181 CFAP52 cilia and flagella associated protein 52 gene DOID:9008028 Visceral Heterotaxy 10, Autosomal ISO RGD:1348671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 10, autosomal, with male infertility PMID:25469542|PMID:25741868|PMID:33139725 12409206 ADSS2 adenylosuccinate synthase 2 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1321450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12409206 ADSS2 adenylosuccinate synthase 2 gene DOID:1115 sarcoma ISO RGD:1310508 D RGD:9068941 20200609 RGD protein:increased activity:tumor (rat) PMID:2560335|REF_RGD_ID:5143928 12409206 ADSS2 adenylosuccinate synthase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1321450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12409206 ADSS2 adenylosuccinate synthase 2 gene DOID:630 genetic disease ISO RGD:1321450 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409206 ADSS2 adenylosuccinate synthase 2 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1321450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 12409206 ADSS2 adenylosuccinate synthase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12409224 SANBR SANT and BTB domain regulator of CSR gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:1606998 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:19449432|PMID:28492532 12409224 SANBR SANT and BTB domain regulator of CSR gene DOID:630 genetic disease ISO RGD:1606998 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409249 OR2M9 olfactory receptor family 2 subfamily M member 9 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1343135 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12409249 OR2M9 olfactory receptor family 2 subfamily M member 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1343135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12409249 OR2M9 olfactory receptor family 2 subfamily M member 9 gene DOID:630 genetic disease ISO RGD:1343135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409249 OR2M9 olfactory receptor family 2 subfamily M member 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12409249 OR2M9 olfactory receptor family 2 subfamily M member 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12409252 ASCL1 achaete-scute family bHLH transcription factor 1 gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:736393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital central hypoventilation PMID:14532329 12409252 ASCL1 achaete-scute family bHLH transcription factor 1 gene DOID:1059 intellectual disability ISO RGD:736393 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12409252 ASCL1 achaete-scute family bHLH transcription factor 1 gene DOID:1824 status epilepticus ISO RGD:71010 D RGD:9068941 20200609 RGD PMID:11564418|REF_RGD_ID:2314147 12409252 ASCL1 achaete-scute family bHLH transcription factor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:736393 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26253517 12409252 ASCL1 achaete-scute family bHLH transcription factor 1 gene DOID:630 genetic disease ISO RGD:736393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409252 ASCL1 achaete-scute family bHLH transcription factor 1 gene DOID:863 nervous system disease ISO RGD:736393 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23203475 12409252 ASCL1 achaete-scute family bHLH transcription factor 1 gene DOID:9000270 Congenital Central Hypoventilation Syndrome 1 ISO RGD:736393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Haddad syndrome PMID:14532329 12409252 ASCL1 achaete-scute family bHLH transcription factor 1 gene DOID:9002221 Hyperplasia ISO RGD:71010 D RGD:9068941 20200609 RGD PMID:12555267|REF_RGD_ID:704377 12409252 ASCL1 achaete-scute family bHLH transcription factor 1 gene DOID:9004610 Acute Lung Injury ISO RGD:736393 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20554700 12409252 ASCL1 achaete-scute family bHLH transcription factor 1 gene DOID:9007096 Stroke ISO RGD:71010 D RGD:9068941 20200609 RGD PMID:16730914|REF_RGD_ID:2314146 12409252 ASCL1 achaete-scute family bHLH transcription factor 1 gene DOID:9281 phenylketonuria ISO RGD:736393 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Phenylketonuria PMID:28492532 12409263 MRGPRG MAS related GPR family member G gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12409263 MRGPRG MAS related GPR family member G gene DOID:0080773 delta beta-thalassemia ISO RGD:1351155 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12409263 MRGPRG MAS related GPR family member G gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12409263 MRGPRG MAS related GPR family member G gene DOID:630 genetic disease ISO RGD:1351155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409269 ALPK2 alpha kinase 2 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1343226 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 12409269 ALPK2 alpha kinase 2 gene DOID:0111988 immunodeficiency 12 ISO RGD:1343226 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 12409269 ALPK2 alpha kinase 2 gene DOID:630 genetic disease ISO RGD:1343226 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12409305 SLC35F1 solute carrier family 35 member F1 gene DOID:0060224 atrial fibrillation ISO RGD:1353208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 12409305 SLC35F1 solute carrier family 35 member F1 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1353208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12409305 SLC35F1 solute carrier family 35 member F1 gene DOID:1059 intellectual disability ISO RGD:1353208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 12409305 SLC35F1 solute carrier family 35 member F1 gene DOID:10907 microcephaly ISO RGD:1353208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 12409305 SLC35F1 solute carrier family 35 member F1 gene DOID:1184 nephrotic syndrome ISO RGD:1353208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:29127259 12409305 SLC35F1 solute carrier family 35 member F1 gene DOID:12849 autistic disorder ISO RGD:1353208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 12409305 SLC35F1 solute carrier family 35 member F1 gene DOID:1826 epilepsy ISO RGD:1353208 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12409305 SLC35F1 solute carrier family 35 member F1 gene DOID:630 genetic disease ISO RGD:1353208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409305 SLC35F1 solute carrier family 35 member F1 gene DOID:9000495 Tremor ISO RGD:1353208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 12409305 SLC35F1 solute carrier family 35 member F1 gene DOID:9008086 Developmental Disabilities ISO RGD:1353208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24824130 12409325 RTP5 receptor transporter protein 5 (putative) gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1606110 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12409325 RTP5 receptor transporter protein 5 (putative) gene DOID:1059 intellectual disability ISO RGD:1606110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12409325 RTP5 receptor transporter protein 5 (putative) gene DOID:630 genetic disease ISO RGD:1606110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409331 ESS2 ess-2 splicing factor homolog gene DOID:0060041 autism spectrum disorder ISO RGD:1317866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12409331 ESS2 ess-2 splicing factor homolog gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1317866 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12409331 ESS2 ess-2 splicing factor homolog gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1317866 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12409331 ESS2 ess-2 splicing factor homolog gene DOID:0111996 immunodeficiency 51 ISO RGD:1317866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12409331 ESS2 ess-2 splicing factor homolog gene DOID:1059 intellectual disability ISO RGD:1317866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12409331 ESS2 ess-2 splicing factor homolog gene DOID:11198 DiGeorge syndrome ISO RGD:1317866 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12409331 ESS2 ess-2 splicing factor homolog gene DOID:11372 megacolon ISO RGD:1317866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12409331 ESS2 ess-2 splicing factor homolog gene DOID:12583 velocardiofacial syndrome ISO RGD:1317866 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12409331 ESS2 ess-2 splicing factor homolog gene DOID:12849 autistic disorder ISO RGD:1317866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12409331 ESS2 ess-2 splicing factor homolog gene DOID:1826 epilepsy ISO RGD:1317866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12409331 ESS2 ess-2 splicing factor homolog gene DOID:5419 schizophrenia ISO RGD:1317866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12409331 ESS2 ess-2 splicing factor homolog gene DOID:612 primary immunodeficiency disease ISO RGD:1317866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12409331 ESS2 ess-2 splicing factor homolog gene DOID:630 genetic disease ISO RGD:1317866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409331 ESS2 ess-2 splicing factor homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12409331 ESS2 ess-2 splicing factor homolog gene DOID:9007661 Dwarfism ISO RGD:1317866 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12409331 ESS2 ess-2 splicing factor homolog gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1317866 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12409345 MRC1 mannose receptor C-type 1 gene DOID:0080600 COVID-19 ISO RGD:1319655 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12409345 MRC1 mannose receptor C-type 1 gene DOID:1024 leprosy ISO RGD:1319655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Susceptibility to leprosy and multibacillary leprosy PMID:20035344 12409345 MRC1 mannose receptor C-type 1 gene DOID:2018 hyperinsulinism ISO RGD:1319655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 12409345 MRC1 mannose receptor C-type 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1319655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 12409345 MRC1 mannose receptor C-type 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1309353 D RGD:9068941 20210122 RGD PMID:24968269|REF_RGD_ID:40924652 12409345 MRC1 mannose receptor C-type 1 gene DOID:9007692 Insulin Resistance ISO RGD:1319655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 12409345 MRC1 mannose receptor C-type 1 gene DOID:9970 obesity ISO RGD:1319655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 12409389 ELOVL2 ELOVL fatty acid elongase 2 gene DOID:12336 male infertility ISO RGD:1318475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21106902 12409389 ELOVL2 ELOVL fatty acid elongase 2 gene DOID:630 genetic disease ISO RGD:1318475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409409 ARHGAP28 Rho GTPase activating protein 28 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1347841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12409409 ARHGAP28 Rho GTPase activating protein 28 gene DOID:1059 intellectual disability ISO RGD:1347841 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12409409 ARHGAP28 Rho GTPase activating protein 28 gene DOID:289 endometriosis ISO RGD:1347841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12409409 ARHGAP28 Rho GTPase activating protein 28 gene DOID:630 genetic disease ISO RGD:1347841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409441 MOBP myelin associated oligodendrocyte basic protein gene DOID:0050256 angiostrongyliasis disease_progression ISO RGD:10908 D RGD:9068941 20200609 RGD PMID:20399564|REF_RGD_ID:27226693 12409441 MOBP myelin associated oligodendrocyte basic protein gene DOID:1459 hypothyroidism ISO RGD:3101 D RGD:9068941 20200609 RGD PMID:11592121|REF_RGD_ID:27226698 12409441 MOBP myelin associated oligodendrocyte basic protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12409441 MOBP myelin associated oligodendrocyte basic protein gene DOID:630 genetic disease ISO RGD:736574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409441 MOBP myelin associated oligodendrocyte basic protein gene DOID:678 progressive supranuclear palsy ISO RGD:736574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21685912 12409441 MOBP myelin associated oligodendrocyte basic protein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10908 D RGD:9068941 20200609 RGD PMID:10623862|REF_RGD_ID:27226694 12409441 MOBP myelin associated oligodendrocyte basic protein gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:3101 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina: PMID:21350694|REF_RGD_ID:10401135 12409441 MOBP myelin associated oligodendrocyte basic protein gene DOID:9255 frontotemporal dementia disease_progression ISO RGD:736574 D RGD:9068941 20200609 RGD DNA:SNP: :rs1768208(human) PMID:24994843|REF_RGD_ID:27226701 12409470 MEF2B myocyte enhancer factor 2B gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1351770 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 12409470 MEF2B myocyte enhancer factor 2B gene DOID:630 genetic disease ISO RGD:1351770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409470 MEF2B myocyte enhancer factor 2B gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1351770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12409480 VAT1L vesicle amine transport 1 like gene DOID:0060041 autism spectrum disorder ISO RGD:1605968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12409480 VAT1L vesicle amine transport 1 like gene DOID:0080452 developmental and epileptic encephalopathy 28 ISO RGD:1605968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 12409480 VAT1L vesicle amine transport 1 like gene DOID:630 genetic disease ISO RGD:1605968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409493 IL34 interleukin 34 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12409493 IL34 interleukin 34 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1602184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12409493 IL34 interleukin 34 gene DOID:11612 polycystic ovary syndrome ISO RGD:1602184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12409493 IL34 interleukin 34 gene DOID:630 genetic disease ISO RGD:1602184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:0050741 alcohol dependence ISO RGD:69220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alcohol dependence PMID:10627091|PMID:10780266|PMID:15654505|PMID:15902904|PMID:16046871|PMID:16440063|PMID:16679777|PMID:17885622|PMID:18056758|PMID:20010786|PMID:22992668|PMID:2987944|PMID:33355142|PMID:4065146|PMID:6650498|PMID:7180842|PMID:7593603|PMID:8903321 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:0060041 autism spectrum disorder ISO RGD:69220 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:0060071 pre-malignant neoplasm ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29718361 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: (rs671) (human) PMID:27214654|REF_RGD_ID:11536476 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:69218 D RGD:9068941 20200609 RGD PMID:25392542|PMID:31026768|REF_RGD_ID:15036808|REF_RGD_ID:15042863 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:0080952 AMED syndrome ISO RGD:69220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 7, DIGENIC PMID:10627091|PMID:10780266|PMID:15654505|PMID:15902904|PMID:16046871|PMID:16440063|PMID:16679777|PMID:17885622|PMID:18056758|PMID:20010786|PMID:22992668|PMID:2987944|PMID:33355142|PMID:4065146|PMID:6650498|PMID:7180842|PMID:7593603|PMID:8903321 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:10652 Alzheimer's disease onset ISO RGD:69220 D RGD:9068941 20200609 RGD PMID:15126281|REF_RGD_ID:1599042 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:10763 hypertension no_association ISO RGD:69220 D RGD:9068941 20200609 RGD PMID:12484509|REF_RGD_ID:1601163 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:10763 hypertension susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD PMID:11510748|REF_RGD_ID:1601164 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:114 heart disease ISO RGD:69219 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased activity:heart: PMID:20957334|REF_RGD_ID:7241590 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:12336 male infertility ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24448831 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:14018 alcoholic liver cirrhosis susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: (rs671) (human) PMID:23550892|REF_RGD_ID:15042864 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:14018 alcoholic liver cirrhosis susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E504K (human) PMID:29779728|REF_RGD_ID:14696777 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:14018 alcoholic liver cirrhosis susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD associated with alcohol dependence;DNA:missense mutation:exon 12:p.E487K (human) PMID:11051375|REF_RGD_ID:15042858 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:14330 Parkinson's disease ISO RGD:69220 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:24491970 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:1574 alcohol use disorder ISO RGD:69220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alcohol dependence PMID:10627091|PMID:10780266|PMID:15654505|PMID:15902904|PMID:16046871|PMID:16440063|PMID:16679777|PMID:17885622|PMID:18056758|PMID:20010786|PMID:22992668|PMID:2987944|PMID:33355142|PMID:4065146|PMID:6650498|PMID:7180842|PMID:7593603|PMID:8903321 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:178 vascular disease ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18596060 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:1793 pancreatic cancer susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:15714130|REF_RGD_ID:2325694 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:1793 pancreatic cancer susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.E504K (human) PMID:19068087|REF_RGD_ID:2325313 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:251 alcohol-induced mental disorder ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26711020 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:2841 asthma ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11506308|PMID:9600491 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:3454 brain infarction susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD PMID:17388993|REF_RGD_ID:1601161 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:3571 liver cancer ISO RGD:69218 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E487K (mouse) PMID:26150517|REF_RGD_ID:14696779 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16639733|PMID:22960999 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:409 liver disease susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD associated with metabolic syndrome;DNA:polymorphism PMID:16408483|REF_RGD_ID:1601162 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:4404 occupational dermatitis ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16758956 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:5041 esophageal cancer ISO RGD:69220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal cancer, alcohol-related, susceptibility to PMID:10627091|PMID:10780266|PMID:15654505|PMID:15902904|PMID:16046871|PMID:16440063|PMID:16679777|PMID:17885622|PMID:18056758|PMID:20010786|PMID:22992668|PMID:2987944|PMID:33355142|PMID:4065146|PMID:6650498|PMID:7180842|PMID:7593603|PMID:8903321 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:5844 myocardial infarction ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.E487K (human) PMID:12452318|REF_RGD_ID:2311152 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:630 genetic disease ISO RGD:69220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma no_association ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:missense mutation:exon 12: (human) PMID:10737710|REF_RGD_ID:15042859 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma severity ISO RGD:69220 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver (human) PMID:28027570|REF_RGD_ID:15036809 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:missense mutation:cds, exon 12:p.E487K (human) PMID:1916152|REF_RGD_ID:14696699 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: (rs671) (human) PMID:29765251|REF_RGD_ID:14700899 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD associated with alcohol use disorder;DNA:missense mutation:cds: (human) PMID:18439068|REF_RGD_ID:15042862 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD associated with alcoholic liver cirrhosis;DNA:missense mutation:cds:p.E487K (human) PMID:25778454|REF_RGD_ID:11054822 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA;missense mutation, haplotype:cds: (rs671) (human) PMID:26827895|REF_RGD_ID:15042857 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD associated with hepatitis C:DNA:SNP:exon 12 (human) PMID:12940444|REF_RGD_ID:14696778 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD protein:decreased expression: liver (human) PMID:26150517|REF_RGD_ID:14696779 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9000117 Esophageal Neoplasms ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8850269 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16404797|PMID:17590986 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:polymorphism:exon 12: (human) PMID:12198368|REF_RGD_ID:14981580 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9001285 Alcoholic Liver Diseases severity ISO RGD:69218 D RGD:9068941 20200609 RGD DNA:deletion:cds: (mouse) PMID:26173414|REF_RGD_ID:11076022 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9001285 Alcoholic Liver Diseases susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:missense mutation:cds, exon 12:p.E487K (human) PMID:1916152|REF_RGD_ID:14696699 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9001285 Alcoholic Liver Diseases susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:3189338|REF_RGD_ID:14696790 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15650968 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9001583 Melanosis ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30721697 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:69218 D RGD:9068941 20200609 RGD protein:altered expression:liver (mouse) PMID:30671488|REF_RGD_ID:15036807 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:69219 D RGD:9068941 20200609 RGD protein:altered expression:liver (rat) PMID:29589772|REF_RGD_ID:14975297 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9002661 Diabetes Complications ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23500772 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9004484 Sepsis treatment ISO RGD:69219 D RGD:9068941 20200609 RGD associated with heat shock treatment;protein:altered expression, altered phosphorylation:liver, mitochondria (rat) PMID:17607160|REF_RGD_ID:15036802 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:69218 D RGD:9068941 20200609 RGD PMID:22022451|REF_RGD_ID:7241603 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9006912 Acute Alcohol Sensitivity ISO RGD:69220 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Alcohol sensitivity, acute | ClinVar Annotator: match by term: Susceptibility to hangover PMID:10627091|PMID:10780266|PMID:15654505|PMID:15902904|PMID:16046871|PMID:16440063|PMID:16679777|PMID:17885622|PMID:18056758|PMID:20010786|PMID:22992668|PMID:25741868|PMID:28492532|PMID:2987944|PMID:33355142|PMID:4065146|PMID:6650498|PMID:7180842|PMID:7593603|PMID:8903321 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:69219 D RGD:9068941 20200609 RGD PMID:17058263|REF_RGD_ID:1599041 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9006944 Alcoholic Fatty Liver severity ISO RGD:69220 D RGD:9068941 20200609 RGD human transgene in mouse model PMID:25457208|REF_RGD_ID:15036811 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9006944 Alcoholic Fatty Liver susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E504K (human) PMID:29063269|REF_RGD_ID:14696776 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9006944 Alcoholic Fatty Liver treatment ISO RGD:69218 D RGD:9068941 20200609 RGD protein:altered processing:liver (mouse) PMID:29156373|REF_RGD_ID:15036805 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9007039 Ventricular Dysfunction ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23500772 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9007102 Myocardial Ischemia ISO RGD:69219 D RGD:9068941 20200609 RGD PMID:18787169|REF_RGD_ID:7241592 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:69219 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:21138988|REF_RGD_ID:7241599 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:69218 D RGD:9068941 20200609 RGD DNA:deletion:exon 3 (mouse) PMID:30121625|REF_RGD_ID:15036810 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:69218 D RGD:9068941 20200609 RGD DNA:deletion:exon 3 (mouse) PMID:24492981|REF_RGD_ID:14975148 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9007588 Heart Injuries ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23500772 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9007692 Insulin Resistance treatment ISO RGD:69219 D RGD:9068941 20200609 RGD protein:altered expression, altered activity:liver (rat) PMID:28688179|REF_RGD_ID:14981582 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9007763 Flushing ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8903321 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69219 D RGD:9068941 20200609 RGD PMID:23468836|REF_RGD_ID:7241598 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9008443 Colorectal Neoplasms ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16332725 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9352 type 2 diabetes mellitus ISO RGD:69220 D RGD:9068941 20200609 RGD PMID:15563966|REF_RGD_ID:2311149 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9743 diabetic neuropathy ISO RGD:69218 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:15318096|REF_RGD_ID:2311150 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9743 diabetic neuropathy ISO RGD:69220 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:15318096|REF_RGD_ID:2311150 12409508 ALDH2 aldehyde dehydrogenase 2 family member gene DOID:9744 type 1 diabetes mellitus ISO RGD:69220 D RGD:9068941 20200609 RGD PMID:12706323|REF_RGD_ID:2311151 12409530 OR7D2 olfactory receptor family 7 subfamily D member 2 gene DOID:12849 autistic disorder ISO RGD:1353359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12409530 OR7D2 olfactory receptor family 7 subfamily D member 2 gene DOID:630 genetic disease ISO RGD:1353359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409549 NIPSNAP1 nipsnap homolog 1 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1321311 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 12409549 NIPSNAP1 nipsnap homolog 1 gene DOID:630 genetic disease ISO RGD:1321311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409549 NIPSNAP1 nipsnap homolog 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1321311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 12409569 UBL4A ubiquitin like 4A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1348580 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12409569 UBL4A ubiquitin like 4A gene DOID:0050476 Barth syndrome ISO RGD:1348580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12409569 UBL4A ubiquitin like 4A gene DOID:0050800 creatine transporter deficiency ISO RGD:1348580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12409569 UBL4A ubiquitin like 4A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12409569 UBL4A ubiquitin like 4A gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1348580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 12409569 UBL4A ubiquitin like 4A gene DOID:0112003 immunodeficiency 33 ISO RGD:1348580 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12409569 UBL4A ubiquitin like 4A gene DOID:10588 adrenoleukodystrophy ISO RGD:1348580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12409569 UBL4A ubiquitin like 4A gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1348580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12409569 UBL4A ubiquitin like 4A gene DOID:12849 autistic disorder ISO RGD:1348580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12409569 UBL4A ubiquitin like 4A gene DOID:13628 favism ISO RGD:1348580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12409569 UBL4A ubiquitin like 4A gene DOID:2729 dyskeratosis congenita ISO RGD:1348580 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12409569 UBL4A ubiquitin like 4A gene DOID:607 paraplegia ISO RGD:1348580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12409569 UBL4A ubiquitin like 4A gene DOID:630 genetic disease ISO RGD:1348580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409569 UBL4A ubiquitin like 4A gene DOID:9002720 Splenomegaly ISO RGD:1348580 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12409594 LOC100685462 zinc finger protein 501 gene DOID:630 genetic disease ISO RGD:1344121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409603 NALF1 NALCN channel auxiliary factor 1 gene DOID:630 genetic disease ISO RGD:2293495 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409603 NALF1 NALCN channel auxiliary factor 1 gene DOID:7475 diverticulitis ISO RGD:2293495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28585551 12409603 NALF1 NALCN channel auxiliary factor 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:2293495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12409610 AGXT alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:736336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12409610 AGXT alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:736336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12409610 AGXT alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:736336 D RGD:7240710 20180130 OMIM 12409610 AGXT alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:736336 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:10394939|PMID:10453743|PMID:10541294|PMID:10737993|PMID:10862087|PMID:10960483|PMID:11562405|PMID:11708860|PMID:12559847|PMID:12768081|PMID:12777626|PMID:12899834|PMID:1301173|PMID:1349575|PMID:15110324|PMID:15253729|PMID:15327387|PMID:15356974|PMID:15365967|PMID:15464418|PMID:15802217|PMID:15840016|PMID:15849466|PMID:15961945|PMID:15961946|PMID:15963748|PMID:16199547|PMID:16208537|PMID:16850020|PMID:16912707|PMID:16971151|PMID:1703535|PMID:17110443|PMID:17460142|PMID:17495019|PMID:17576681|PMID:17696873|PMID:18282470|PMID:18448374|PMID:18782763|PMID:1879825|PMID:18810341|PMID:18985333|PMID:19155213|PMID:19479957|PMID:19571789|PMID:1961759|PMID:20016466|PMID:20133649|PMID:20301460|PMID:2039493|PMID:20544097|PMID:20549407|PMID:20564000|PMID:20573805|PMID:20713123|PMID:21176891|PMID:21705122|PMID:21850686|PMID:22018727|PMID:22529745|PMID:22685354|PMID:22781098|PMID:22821680|PMID:22844106|PMID:22923379|PMID:23229545|PMID:23430879|PMID:23439734|PMID:23551880|PMID:23589421|PMID:23810941|PMID:23861508|PMID:24012869|PMID:24033266|PMID:24055001|PMID:24205397|PMID:24385516|PMID:24718375|PMID:24934730|PMID:24988064|PMID:24990153|PMID:25013605|PMID:25296721|PMID:25363903|PMID:25620715|PMID:25629080|PMID:25644115|PMID:25741868|PMID:26149463|PMID:26252291|PMID:26383609|PMID:26759051|PMID:27135212|PMID:27512303|PMID:27568336|PMID:27644547|PMID:27659337|PMID:27915025|PMID:27935012|PMID:28492532|PMID:28553045|PMID:28619084|PMID:28660284|PMID:28893421|PMID:28904440|PMID:28906061|PMID:29110180|PMID:29127259|PMID:29244539|PMID:29456205|PMID:29590070|PMID:29959618|PMID:30076350|PMID:30341509|PMID:30488096|PMID:30541997|PMID:30655312|PMID:30787879|PMID:31078535|PMID:31215412|PMID:31589614|PMID:31715429|PMID:32556641|PMID:32608139|PMID:32792227|PMID:33408043|PMID:33691640|PMID:33721035|PMID:34031707|PMID:34082749|PMID:35149915|PMID:35661454|PMID:35695965|PMID:7967498|PMID:8101040|PMID:9002528|PMID:9136629|PMID:9192270|PMID:9536098|PMID:9604803 12409610 AGXT alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:736336 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12409610 AGXT alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:1059 intellectual disability ISO RGD:736336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12409610 AGXT alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:1184 nephrotic syndrome ISO RGD:736336 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:10453743|PMID:15327387|PMID:15464418|PMID:17495019|PMID:19479957|PMID:25629080|PMID:25741868|PMID:27135212|PMID:28492532|PMID:28619084|PMID:29127259|PMID:30655312 12409610 AGXT alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:12679 nephrocalcinosis ISO RGD:736336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:10541294|PMID:10960483|PMID:12777626|PMID:15327387|PMID:15802217|PMID:15961946|PMID:16912707|PMID:17460142|PMID:17495019|PMID:19155213|PMID:20133649|PMID:23229545|PMID:24012869|PMID:24055001|PMID:24718375|PMID:24988064|PMID:25629080|PMID:25741868|PMID:28492532|PMID:28893421|PMID:31078535|PMID:8101040|PMID:9136629|PMID:9192270 12409610 AGXT alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:2977 primary hyperoxaluria ISO RGD:736336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:10453743|PMID:10541294|PMID:10862087|PMID:10960483|PMID:11562405|PMID:11708860|PMID:12768081|PMID:12777626|PMID:15110324|PMID:15253729|PMID:15327387|PMID:15356974|PMID:15464418|PMID:15802217|PMID:15840016|PMID:15961945|PMID:15961946|PMID:15963748|PMID:16199547|PMID:16208537|PMID:16850020|PMID:16912707|PMID:16971151|PMID:1703535|PMID:17110443|PMID:17460142|PMID:17495019|PMID:18282470|PMID:18782763|PMID:18985333|PMID:19155213|PMID:19479957|PMID:19571789|PMID:1961759|PMID:20016466|PMID:20133649|PMID:20301460|PMID:2039493|PMID:20564000|PMID:20713123|PMID:22018727|PMID:22529745|PMID:22821680|PMID:22844106|PMID:22923379|PMID:23229545|PMID:23551880|PMID:23810941|PMID:24012869|PMID:24033266|PMID:24205397|PMID:24385516|PMID:24988064|PMID:24990153|PMID:25296721|PMID:25363903|PMID:25629080|PMID:25644115|PMID:25741868|PMID:26383609|PMID:26759051|PMID:27135212|PMID:27512303|PMID:27915025|PMID:27935012|PMID:28492532|PMID:28619084|PMID:28893421|PMID:28904440|PMID:29127259|PMID:30341509|PMID:30488096|PMID:30541997|PMID:30655312|PMID:31078535|PMID:31589614|PMID:32556641|PMID:32792227|PMID:33691640|PMID:33721035|PMID:34031707|PMID:35149915|PMID:8101040|PMID:9136629|PMID:9192270|PMID:9604803 12409610 AGXT alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:630 genetic disease ISO RGD:736336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12409610 AGXT alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:736336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12409610 AGXT alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:9002785 Vitamin B Deficiency ISO RGD:2073 D RGD:9068941 20200609 RGD PMID:12544342|REF_RGD_ID:1599455 12409610 AGXT alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:9004912 Hyperoxaluria ISO RGD:736336 D RGD:9068941 20200609 RGD DNA:mutation:cds: PMID:2039493|REF_RGD_ID:1300367 12409610 AGXT alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:9004912 Hyperoxaluria ISO RGD:736336 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:8101040|REF_RGD_ID:1302510 12409610 AGXT alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:9008457 Thrombocytopenia 7 IAGP D RGD:12801476 20210603 OMIA Hyperoxaluria, primary, type I (Oxalosis I) PMID:2394849|PMID:1672096|PMID:22486513 12409625 GADD45A growth arrest and DNA damage inducible alpha gene DOID:1059 intellectual disability ISO RGD:733803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12409625 GADD45A growth arrest and DNA damage inducible alpha gene DOID:1793 pancreatic cancer ISO RGD:733803 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19003803 12409625 GADD45A growth arrest and DNA damage inducible alpha gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 12409625 GADD45A growth arrest and DNA damage inducible alpha gene DOID:630 genetic disease ISO RGD:733803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409625 GADD45A growth arrest and DNA damage inducible alpha gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12409625 GADD45A growth arrest and DNA damage inducible alpha gene DOID:9000217 Stomach Neoplasms ISO RGD:733803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15837757 12409625 GADD45A growth arrest and DNA damage inducible alpha gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:736689 D RGD:9068941 20200609 RGD PMID:19124556|REF_RGD_ID:5509080 12409625 GADD45A growth arrest and DNA damage inducible alpha gene DOID:9001341 Chloracne ISO RGD:733803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12409625 GADD45A growth arrest and DNA damage inducible alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:733803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19190346 12409625 GADD45A growth arrest and DNA damage inducible alpha gene DOID:9002762 Ovarian Neoplasms ISO RGD:733803 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17474084 12409625 GADD45A growth arrest and DNA damage inducible alpha gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 12409625 GADD45A growth arrest and DNA damage inducible alpha gene DOID:9074 systemic lupus erythematosus ISO RGD:736689 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12409633 GGH gamma-glutamyl hydrolase gene DOID:0080600 COVID-19 ISO RGD:735324 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12409633 GGH gamma-glutamyl hydrolase gene DOID:11054 urinary bladder cancer ISO RGD:735324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19815704 12409633 GGH gamma-glutamyl hydrolase gene DOID:2671 transitional cell carcinoma ISO RGD:735324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19815704 12409633 GGH gamma-glutamyl hydrolase gene DOID:630 genetic disease ISO RGD:735324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409633 GGH gamma-glutamyl hydrolase gene DOID:7148 rheumatoid arthritis ISO RGD:735324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 12409633 GGH gamma-glutamyl hydrolase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12409633 GGH gamma-glutamyl hydrolase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21219404 12409633 GGH gamma-glutamyl hydrolase gene DOID:9008443 Colorectal Neoplasms ISO RGD:735324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 12409713 CFAP221 cilia and flagella associated protein 221 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1606685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:31636325 12409752 RELCH RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1316306 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12409752 RELCH RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1316306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 12409752 RELCH RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing gene DOID:630 genetic disease ISO RGD:1316306 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409798 LOC477540 SEC14-like protein 3 gene DOID:630 genetic disease ISO RGD:1346355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409814 SEC61A2 SEC61 translocon subunit alpha 2 gene DOID:0050770 polycystic liver disease ISO RGD:1314281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 12409814 SEC61A2 SEC61 translocon subunit alpha 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1314281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12409814 SEC61A2 SEC61 translocon subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1314281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409814 SEC61A2 SEC61 translocon subunit alpha 2 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1314281 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 12409833 POLR2H RNA polymerase II, I and III subunit H gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1314889 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12409833 POLR2H RNA polymerase II, I and III subunit H gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1314889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12409833 POLR2H RNA polymerase II, I and III subunit H gene DOID:0111546 Currarino syndrome ISO RGD:1314889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12409843 TCHH trichohyalin gene DOID:0111940 immunodeficiency 42 ISO RGD:1320079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12409843 TCHH trichohyalin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1320079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12409843 TCHH trichohyalin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1320079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12409843 TCHH trichohyalin gene DOID:1540 parathyroid carcinoma ISO RGD:1320079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12409843 TCHH trichohyalin gene DOID:5812 MHC class II deficiency ISO RGD:1320079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12409843 TCHH trichohyalin gene DOID:630 genetic disease ISO RGD:1320079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409843 TCHH trichohyalin gene DOID:9003784 Uncombable Hair Syndrome 3 ISO RGD:1320079 D RGD:7240710 20190315 OMIM 12409843 TCHH trichohyalin gene DOID:9003784 Uncombable Hair Syndrome 3 ISO RGD:1320079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uncombable hair syndrome 3 PMID:25741868|PMID:27866708 12409843 TCHH trichohyalin gene DOID:9005997 Uncombable Hair Syndrome ISO RGD:1320079 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12409843 TCHH trichohyalin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12409885 ANKRD13D ankyrin repeat domain 13D gene DOID:1059 intellectual disability ISO RGD:1605234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12409885 ANKRD13D ankyrin repeat domain 13D gene DOID:630 genetic disease ISO RGD:1605234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409885 ANKRD13D ankyrin repeat domain 13D gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1605234 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12409885 ANKRD13D ankyrin repeat domain 13D gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1605234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12409912 DOK5 docking protein 5 gene DOID:630 genetic disease ISO RGD:1343098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409924 PPP1R13B protein phosphatase 1 regulatory subunit 13B gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1312214 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12409924 PPP1R13B protein phosphatase 1 regulatory subunit 13B gene DOID:630 genetic disease ISO RGD:1312214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409924 PPP1R13B protein phosphatase 1 regulatory subunit 13B gene DOID:9007491 Childhood Schizophrenia ISO RGD:1312214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 12409948 WFIKKN2 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 gene DOID:630 genetic disease ISO RGD:1346693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12409954 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1558257 D RGD:9068941 20220825 MouseDO OMIM:300046 | OMIM:300047 | OMIM:300062 | OMIM:300114 | OMIM:300115 | OMIM:300143 | OMIM:300210 | OMIM:300271 | OMIM:300324 | OMIM:300355 | OMIM:300372 | OMIM:300387 | OMIM:300428 | OMIM:300433 | OMIM:300436 | OMIM:300454 | OMIM:300498 | OMIM:300505 | OMIM:300518 | OMIM:300558 | OMIM:300577 | OMIM:300659 | OMIM:300716 | OMIM:300802 | OMIM:300803 | OMIM:300844 | OMIM:300848 | OMIM:300849 | OMIM:300850 | OMIM:300851 | OMIM:300852 | OMIM:300912 | OMIM:300919 | OMIM:300923 | OMIM:309530 | OMIM:309549 12409954 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1353175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30763456 12409954 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1353175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy PMID:25741868 12409954 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12409954 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1353175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome | ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 PMID:19052029|PMID:23683030|PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 12409954 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0111844 X-linked intellectual developmental disorder 108 ISO RGD:1353175 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 108 PMID:25741868 12409954 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:1353175 D RGD:7240710 20180130 OMIM 12409954 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:1353175 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 1 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 18 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 78 PMID:12210308|PMID:15197169|PMID:15669143|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19052029|PMID:19344873|PMID:19481195|PMID:20473311|PMID:21686261|PMID:23020937|PMID:23674175|PMID:23683030|PMID:23934111|PMID:24306141|PMID:24759409|PMID:25649377|PMID:25741868|PMID:25914188|PMID:26059843|PMID:26467025|PMID:26539891|PMID:26544041|PMID:26633542|PMID:2673329|PMID:26733290|PMID:26793055|PMID:26795593|PMID:27009485|PMID:27062609|PMID:27369185|PMID:27535533|PMID:27652284|PMID:27665735|PMID:27864847|PMID:28220259|PMID:28295041|PMID:28492532|PMID:28815955|PMID:29026562|PMID:29100083|PMID:29302074|PMID:29322350|PMID:29720203|PMID:30206421|PMID:30328660|PMID:30666632|PMID:30842726|PMID:31415821|PMID:31512412|PMID:3177466|PMID:32005694|PMID:33368194|PMID:33624935|PMID:33753861|PMID:34906502|PMID:7943039|PMID:8236453|PMID:9536098|PMID:9628581 12409954 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0112081 nuclear type mitochondrial complex I deficiency 8 ISO RGD:1353175 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 PMID:25741868 12409954 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:1059 intellectual disability ISO RGD:1353175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:20473311|PMID:21686261|PMID:25167861|PMID:25741868|PMID:26633542|PMID:26793055|PMID:27665735|PMID:28492532|PMID:28815955|PMID:3177466 12409954 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:1059 intellectual disability ISO RGD:1353175 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:19481195|PMID:20473311|PMID:21686261|PMID:25167861|PMID:25741868|PMID:26633542|PMID:26793055|PMID:27665735|PMID:28492532|PMID:28815955|PMID:30666632|PMID:3177466|PMID:33368194 12409954 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:10907 microcephaly ISO RGD:1353175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12409954 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:12849 autistic disorder ISO RGD:1353175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12409954 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:1826 epilepsy ISO RGD:1353175 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12409954 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:607 paraplegia ISO RGD:1353175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12409954 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:630 genetic disease ISO RGD:1353175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15197169|PMID:15669143|PMID:17576681|PMID:18414213|PMID:19344873|PMID:20473311|PMID:21686261|PMID:23020937|PMID:23674175|PMID:23934111|PMID:24306141|PMID:25741868|PMID:25914188|PMID:26467025|PMID:26539891|PMID:26544041|PMID:2673329|PMID:26733290|PMID:26793055|PMID:26795593|PMID:27009485|PMID:27535533|PMID:27665735|PMID:27864847|PMID:28220259|PMID:28295041|PMID:28492532|PMID:28815955|PMID:29302074|PMID:29322350|PMID:29720203|PMID:30206421|PMID:3177466|PMID:7943039|PMID:8166633|PMID:8236453|PMID:9536098|PMID:9628581 12409954 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:8927 learning disability ISO RGD:1353175 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:25741868 12409954 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353175 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12409954 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:9004603 Atkin Syndrome ISO RGD:1353175 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome | ClinVar Annotator: match by term: Mental retardation, X-linked, nonspecific PMID:12210308|PMID:15197169|PMID:15669143|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19052029|PMID:19344873|PMID:19481195|PMID:20473311|PMID:21686261|PMID:23020937|PMID:23674175|PMID:23683030|PMID:23934111|PMID:24306141|PMID:24759409|PMID:25649377|PMID:25741868|PMID:25914188|PMID:26059843|PMID:26467025|PMID:26539891|PMID:26544041|PMID:26633542|PMID:2673329|PMID:26733290|PMID:26793055|PMID:26795593|PMID:27009485|PMID:27062609|PMID:27369185|PMID:27535533|PMID:27652284|PMID:27665735|PMID:27864847|PMID:28220259|PMID:28295041|PMID:28492532|PMID:28815955|PMID:29026562|PMID:29100083|PMID:29302074|PMID:29322350|PMID:29720203|PMID:30206421|PMID:30328660|PMID:30666632|PMID:30842726|PMID:31415821|PMID:31512412|PMID:3177466|PMID:32005694|PMID:33368194|PMID:33624935|PMID:33753861|PMID:34906502|PMID:7943039|PMID:8236453|PMID:9536098|PMID:9628581 12409954 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1353175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20473311 12409954 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:9006598 Three M Syndrome 2 ISO RGD:1353175 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Three M syndrome 2 PMID:19481195|PMID:20473311|PMID:25741868|PMID:3177466 12409991 CDPF1 cysteine rich DPF motif domain containing 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1604737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12409991 CDPF1 cysteine rich DPF motif domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1604737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12409991 CDPF1 cysteine rich DPF motif domain containing 1 gene DOID:630 genetic disease ISO RGD:1604737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410007 MACROD1 mono-ADP ribosylhydrolase 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12410007 MACROD1 mono-ADP ribosylhydrolase 1 gene DOID:1059 intellectual disability ISO RGD:1603052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12410007 MACROD1 mono-ADP ribosylhydrolase 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1603052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28832565 12410007 MACROD1 mono-ADP ribosylhydrolase 1 gene DOID:3070 high grade glioma ISO RGD:1603052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12410007 MACROD1 mono-ADP ribosylhydrolase 1 gene DOID:574 peripheral nervous system disease ISO RGD:1603052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 12410007 MACROD1 mono-ADP ribosylhydrolase 1 gene DOID:630 genetic disease ISO RGD:1603052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12410007 MACROD1 mono-ADP ribosylhydrolase 1 gene DOID:870 neuropathy ISO RGD:1603052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 12410021 ZNF283 zinc finger protein 283 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1354182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12410021 ZNF283 zinc finger protein 283 gene DOID:5419 schizophrenia ISO RGD:1354182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12410021 ZNF283 zinc finger protein 283 gene DOID:630 genetic disease ISO RGD:1354182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410030 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1352192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12410030 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:0080272 nephrotic syndrome type 16 ISO RGD:1352192 D RGD:7240710 20190315 OMIM 12410030 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:0080272 nephrotic syndrome type 16 ISO RGD:1352192 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 16 PMID:25741868|PMID:25961457|PMID:28492532 12410030 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1352192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12410030 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1352192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12410030 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1352192 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12410030 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:630 genetic disease ISO RGD:1352192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12410030 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:9005974 PALMOPLANTAR KERATODERMA AND WOOLLY HAIR ISO RGD:1352192 D RGD:7240710 20180130 OMIM 12410030 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:9005974 PALMOPLANTAR KERATODERMA AND WOOLLY HAIR ISO RGD:1352192 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma and woolly hair PMID:24671081|PMID:25741868|PMID:28492532 12410030 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:9775 diastolic heart failure ISO RGD:1352192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12410056 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1618248 D RGD:9068941 20220825 MouseDO 12410056 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:0060764 autosomal recessive Robinow syndrome ISO RGD:1618248 D RGD:9068941 20220825 MouseDO OMIM:268310 12410056 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1346789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12410056 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:0111448 progressive myoclonus epilepsy 1B ISO RGD:1346789 D RGD:7240710 20180130 OMIM 12410056 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:0111448 progressive myoclonus epilepsy 1B ISO RGD:1346789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B PMID:17576681|PMID:18414213|PMID:18976727|PMID:20301774|PMID:21276947|PMID:21901791|PMID:24689077|PMID:25741868|PMID:26378787|PMID:26467025|PMID:28492532|PMID:29358611|PMID:29790814|PMID:30564977|PMID:31035234|PMID:31875159|PMID:32214227|PMID:9536098 12410056 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:1059 intellectual disability ISO RGD:1346789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21901791|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 12410056 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:11832 visual epilepsy ISO RGD:735090 D RGD:9068941 20220728 RGD protein:increased expression:hippocampus: PMID:21905079|REF_RGD_ID:9686146 12410056 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1618248 D RGD:9068941 20220825 MouseDO OMIM:192430 12410056 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:1826 epilepsy ISO RGD:1346789 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 12410056 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:1826 epilepsy ISO RGD:1346789 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12410056 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:2234 focal epilepsy ISO RGD:1346789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness 12410056 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:3328 temporal lobe epilepsy treatment ISO RGD:735090 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:21905079|REF_RGD_ID:9686146 12410056 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1346789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:21901791|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 12410056 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:630 genetic disease ISO RGD:1346789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:20301774|PMID:21901791|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611|PMID:30564977|PMID:9536098 12410056 PRICKLE1 prickle planar cell polarity protein 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1346789 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: PME | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:21901791|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 12410073 TFEC transcription factor EC gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12410073 TFEC transcription factor EC gene DOID:630 genetic disease ISO RGD:735415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410073 TFEC transcription factor EC gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735415 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12410105 MIR191 microRNA mir-191 gene DOID:1574 alcohol use disorder onset ISO RGD:2325556 D RGD:9068941 20200716 RGD PMID:32135570|REF_RGD_ID:35673317 12410105 MIR191 microRNA mir-191 gene DOID:557 kidney disease ISO RGD:1345210 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:31775542 12410105 MIR191 microRNA mir-191 gene DOID:6000 congestive heart failure ISO RGD:1345210 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12410105 MIR191 microRNA mir-191 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1345210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12410105 MIR191 microRNA mir-191 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1345210 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12410105 MIR191 microRNA mir-191 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1345210 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29277653 12410105 MIR191 microRNA mir-191 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345210 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12410105 MIR191 microRNA mir-191 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1345210 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22048643|PMID:29277653 12410126 FOXC2 forkhead box C2 gene DOID:0060260 ptosis ISO RGD:1347315 D RGD:9068941 20200609 RGD lymphedema and ptosis,OMIM:153000;DNA:deletion:505delA PMID:11371511|REF_RGD_ID:1601216 12410126 FOXC2 forkhead box C2 gene DOID:0111509 lymphedema-distichiasis syndrome ISO RGD:1347315 D RGD:7240710 20180130 OMIM 12410126 FOXC2 forkhead box C2 gene DOID:0111509 lymphedema-distichiasis syndrome ISO RGD:1347315 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distichiasis-lymphedema syndrome PMID:10417285|PMID:11078474|PMID:11371511|PMID:11499682|PMID:12114478|PMID:12485195|PMID:16081467|PMID:18197197|PMID:19760751|PMID:20301630|PMID:22768468|PMID:24278289|PMID:25252123|PMID:25741868|PMID:27276711|PMID:28492532 12410126 FOXC2 forkhead box C2 gene DOID:0111985 immunodeficiency 32B ISO RGD:1347315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 32B PMID:28492532 12410126 FOXC2 forkhead box C2 gene DOID:10952 nephritis ISO RGD:1347315 D RGD:9068941 20200609 RGD DNA:insertion:1006insA PMID:15523639|REF_RGD_ID:1601217 12410126 FOXC2 forkhead box C2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1347315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12410126 FOXC2 forkhead box C2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1347315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27663689 12410126 FOXC2 forkhead box C2 gene DOID:4977 lymphedema ISO RGD:1347315 D RGD:9068941 20200609 RGD lymphedema and ptosis,OMIM:153000;DNA:deletion:505delA PMID:11371511|REF_RGD_ID:1601216 12410126 FOXC2 forkhead box C2 gene DOID:4977 lymphedema ISO RGD:1347315 D RGD:9068941 20200609 RGD lymphedema-distichiasis syndrome,OMIM:153400;DNA:insertion:1006insA PMID:15523639|REF_RGD_ID:1601217 12410126 FOXC2 forkhead box C2 gene DOID:530 eyelid disease ISO RGD:1347315 D RGD:9068941 20200609 RGD lymphedema-distichiasis syndrome,OMIM:153400;DNA:insertion:1006insA PMID:15523639|REF_RGD_ID:1601217 12410126 FOXC2 forkhead box C2 gene DOID:6000 congestive heart failure ISO RGD:1347315 D RGD:9068941 20200609 RGD PMID:16952980|REF_RGD_ID:1582564 12410126 FOXC2 forkhead box C2 gene DOID:630 genetic disease ISO RGD:1347315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12410126 FOXC2 forkhead box C2 gene DOID:6419 tetralogy of Fallot ISO RGD:1347315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25093829 12410126 FOXC2 forkhead box C2 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1347315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9409679 12410126 FOXC2 forkhead box C2 gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:1347315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9106663 12410126 FOXC2 forkhead box C2 gene DOID:9007294 Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus ISO RGD:1347315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus PMID:15523639 12410126 FOXC2 forkhead box C2 gene DOID:9007692 Insulin Resistance ISO RGD:1347315 D RGD:9068941 20200609 RGD DNA:polymorphism:5'ut:-512C>T PMID:12453913|REF_RGD_ID:1601219 12410126 FOXC2 forkhead box C2 gene DOID:9008386 Hydrops Fetalis ISO RGD:1347315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 12410126 FOXC2 forkhead box C2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1347315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9106663|PMID:9409679 12410126 FOXC2 forkhead box C2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347315 D RGD:9068941 20200609 RGD DNA:insertion:1006insA PMID:15523639|REF_RGD_ID:1601217 12410126 FOXC2 forkhead box C2 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1347315 D RGD:9068941 20200609 RGD DNA:polymorphism:5'ut:-512C>T,-350G>T, 3'ut:1548C>T PMID:12540636|REF_RGD_ID:1601220 12410126 FOXC2 forkhead box C2 gene DOID:9970 obesity ISO RGD:1347315 D RGD:9068941 20200609 RGD DNA:polymorphism:5'ut:-512C>T(human) PMID:15601967|REF_RGD_ID:1601218 12410173 KITLG KIT ligand gene DOID:0050777 Joubert syndrome ISO RGD:737118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:19764032|PMID:23954617|PMID:27821535|PMID:28492532 12410173 KITLG KIT ligand gene DOID:0110590 autosomal dominant nonsyndromic deafness 69 ISO RGD:737118 D RGD:7240710 20180130 OMIM 12410173 KITLG KIT ligand gene DOID:0110590 autosomal dominant nonsyndromic deafness 69 ISO RGD:737118 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 69 | ClinVar Annotator: match by term: Deafness, autosomal dominant 69, unilateral or asymmetric PMID:25741868|PMID:26522471 12410173 KITLG KIT ligand gene DOID:0111373 familial progressive hyperpigmentation with or without hypopigmentation ISO RGD:737118 D RGD:7240710 20180130 OMIM 12410173 KITLG KIT ligand gene DOID:0111373 familial progressive hyperpigmentation with or without hypopigmentation ISO RGD:737118 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperpigmentation with or without hypopigmentation, familial progressive PMID:15040480|PMID:15551335|PMID:19375057|PMID:21368769|PMID:24033266|PMID:25741868|PMID:28492532 12410173 KITLG KIT ligand gene DOID:1749 squamous cell carcinoma IAGP D RGD:12801476 20230426 OMIA Squamous cell carcinoma of the digit PMID:6354679|PMID:6731733|PMID:1399782|PMID:7657570|PMID:16231717|PMID:17609360|PMID:2800263|PMID:23555311|PMID:24936030|PMID:26699508|PMID:36851451|PMID:36851392 12410173 KITLG KIT ligand gene DOID:305 carcinoma ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12410173 KITLG KIT ligand gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24979617 12410173 KITLG KIT ligand gene DOID:3663 cutaneous mastocytosis ISO RGD:737119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20559008 12410173 KITLG KIT ligand gene DOID:630 genetic disease ISO RGD:737118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410173 KITLG KIT ligand gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12410173 KITLG KIT ligand gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19483681|PMID:19483682 12410173 KITLG KIT ligand gene DOID:9000750 Waardenburg Syndrome Type 2F ISO RGD:737118 D RGD:7240710 20220720 OMIM 12410173 KITLG KIT ligand gene DOID:9000750 Waardenburg Syndrome Type 2F ISO RGD:737118 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome, type 2F PMID:28504826|PMID:35543077 12410173 KITLG KIT ligand gene DOID:9001472 Nasal Polyps ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15813808 12410173 KITLG KIT ligand gene DOID:9001581 Constipation ISO RGD:3086 D RGD:9068941 20220505 RGD mRNA, protein:decreased expression:colon PMID:33792838|REF_RGD_ID:152025536 12410173 KITLG KIT ligand gene DOID:9002566 Gastric Reperfusion Injury ISO RGD:3086 D RGD:9068941 20200609 RGD mRNA:decreased expression:stomach: PMID:20040059|REF_RGD_ID:12911222 12410173 KITLG KIT ligand gene DOID:9004207 Testicular Neoplasms ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19483681|PMID:19483682 12410173 KITLG KIT ligand gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12410173 KITLG KIT ligand gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1720698 12410173 KITLG KIT ligand gene DOID:9007102 Myocardial Ischemia ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12410173 KITLG KIT ligand gene DOID:9007207 Skin/Hair/Eye Pigmentation, Variation In, 7 ISO RGD:737118 D RGD:7240710 20221207 OMIM 12410173 KITLG KIT ligand gene DOID:9007207 Skin/Hair/Eye Pigmentation, Variation In, 7 ISO RGD:737118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN PMID:17952075|PMID:18083106|PMID:24880339 12410173 KITLG KIT ligand gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737119 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12594235 12410173 KITLG KIT ligand gene DOID:9970 obesity ISO RGD:737119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23954404 12410191 SAMM50 SAMM50 sorting and assembly machinery component gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1604035 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:26740948|REF_RGD_ID:13463463 12410191 SAMM50 SAMM50 sorting and assembly machinery component gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1604035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12410191 SAMM50 SAMM50 sorting and assembly machinery component gene DOID:1059 intellectual disability ISO RGD:1604035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12410191 SAMM50 SAMM50 sorting and assembly machinery component gene DOID:630 genetic disease ISO RGD:1604035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410210 TMOD1 tropomodulin 1 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1605431 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 12410210 TMOD1 tropomodulin 1 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1605431 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 12410210 TMOD1 tropomodulin 1 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1605431 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 12410210 TMOD1 tropomodulin 1 gene DOID:1059 intellectual disability ISO RGD:1605431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12410210 TMOD1 tropomodulin 1 gene DOID:12712 nephronophthisis ISO RGD:1605431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 12410210 TMOD1 tropomodulin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:735256 D RGD:9068941 20220825 MouseDO 12410210 TMOD1 tropomodulin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1605431 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 12410210 TMOD1 tropomodulin 1 gene DOID:5119 ovarian cyst ISO RGD:1605431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12410210 TMOD1 tropomodulin 1 gene DOID:630 genetic disease ISO RGD:1605431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410210 TMOD1 tropomodulin 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1605431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 12410210 TMOD1 tropomodulin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12410233 TLE4 TLE family member 4, transcriptional corepressor gene DOID:305 carcinoma ISO RGD:733230 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12410233 TLE4 TLE family member 4, transcriptional corepressor gene DOID:630 genetic disease ISO RGD:733230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410233 TLE4 TLE family member 4, transcriptional corepressor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733230 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12410233 TLE4 TLE family member 4, transcriptional corepressor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733230 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12410233 TLE4 TLE family member 4, transcriptional corepressor gene DOID:9007102 Myocardial Ischemia ISO RGD:733230 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12410264 IMPDH2 inosine monophosphate dehydrogenase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1353070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12410264 IMPDH2 inosine monophosphate dehydrogenase 2 gene DOID:543 dystonia ISO RGD:1353070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder 12410264 IMPDH2 inosine monophosphate dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:1353070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410264 IMPDH2 inosine monophosphate dehydrogenase 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1353070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12410264 IMPDH2 inosine monophosphate dehydrogenase 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1353070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12410264 IMPDH2 inosine monophosphate dehydrogenase 2 gene DOID:9006205 Animal Disease Models ISO RGD:1353070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12410291 DNAJB1 DnaJ heat shock protein family (Hsp40) member B1 gene DOID:630 genetic disease ISO RGD:1312336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410305 NSA2 NSA2 ribosome biogenesis factor gene DOID:12236 primary biliary cholangitis ISO RGD:1607078 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 12410305 NSA2 NSA2 ribosome biogenesis factor gene DOID:3323 Sandhoff disease ISO RGD:1607078 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 12410305 NSA2 NSA2 ribosome biogenesis factor gene DOID:630 genetic disease ISO RGD:1607078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410305 NSA2 NSA2 ribosome biogenesis factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12410315 MARK1 microtubule affinity regulating kinase 1 gene DOID:0050439 Usher syndrome ISO RGD:732241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 12410315 MARK1 microtubule affinity regulating kinase 1 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:732241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12410315 MARK1 microtubule affinity regulating kinase 1 gene DOID:12849 autistic disorder ISO RGD:732241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18492799 12410315 MARK1 microtubule affinity regulating kinase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:732241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12410315 MARK1 microtubule affinity regulating kinase 1 gene DOID:630 genetic disease ISO RGD:732241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410315 MARK1 microtubule affinity regulating kinase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12410315 MARK1 microtubule affinity regulating kinase 1 gene DOID:9006949 Martsolf Syndrome ISO RGD:732241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 12410315 MARK1 microtubule affinity regulating kinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12410341 SYNPO synaptopodin gene DOID:0050851 glomerulosclerosis treatment ISO RGD:735344 D RGD:9068941 20201225 RGD PMID:22125642|REF_RGD_ID:40902998 12410341 SYNPO synaptopodin gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735343 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12410341 SYNPO synaptopodin gene DOID:1184 nephrotic syndrome ISO RGD:735343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:33615071 12410341 SYNPO synaptopodin gene DOID:630 genetic disease ISO RGD:735343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12410341 SYNPO synaptopodin gene DOID:784 chronic kidney disease treatment ISO RGD:735343 D RGD:9068941 20221103 RGD human cells in rat model PMID:33298161|REF_RGD_ID:155631310 12410341 SYNPO synaptopodin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735343 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12410347 MTX1 metaxin 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1351611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12410347 MTX1 metaxin 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1351611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12410347 MTX1 metaxin 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1351611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12410347 MTX1 metaxin 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1351611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12410347 MTX1 metaxin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1351611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12410347 MTX1 metaxin 1 gene DOID:5812 MHC class II deficiency ISO RGD:1351611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12410347 MTX1 metaxin 1 gene DOID:630 genetic disease ISO RGD:1351611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410347 MTX1 metaxin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12410359 MACROH2A1 macroH2A.1 histone gene DOID:0050908 myelodysplastic syndrome ISO RGD:736206 D RGD:9068941 20220825 MouseDO OMIM:614286 12410359 MACROH2A1 macroH2A.1 histone gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731902 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12410359 MACROH2A1 macroH2A.1 histone gene DOID:630 genetic disease ISO RGD:731902 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410359 MACROH2A1 macroH2A.1 histone gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12410359 MACROH2A1 macroH2A.1 histone gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12410359 MACROH2A1 macroH2A.1 histone gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731902 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12410395 COL28A1 collagen type XXVIII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1604476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410395 COL28A1 collagen type XXVIII alpha 1 chain gene DOID:670 amphetamine abuse ISO RGD:1604476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12410435 ASIC5 acid sensing ion channel subunit family member 5 gene DOID:630 genetic disease ISO RGD:736018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410435 ASIC5 acid sensing ion channel subunit family member 5 gene DOID:9007479 Habitual Abortions ISO RGD:736018 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 12410448 RHOC ras homolog family member C gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1312711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 12410448 RHOC ras homolog family member C gene DOID:13938 amenorrhea ISO RGD:1312711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12410448 RHOC ras homolog family member C gene DOID:1612 breast cancer severity ISO RGD:1312711 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:12237774|REF_RGD_ID:2298874 12410448 RHOC ras homolog family member C gene DOID:4001 ovarian carcinoma ISO RGD:1312711 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:12808121|REF_RGD_ID:2298873 12410448 RHOC ras homolog family member C gene DOID:630 genetic disease ISO RGD:1312711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410448 RHOC ras homolog family member C gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18230616 12410448 RHOC ras homolog family member C gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312711 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms PMID:12808121|REF_RGD_ID:2298873 12410448 RHOC ras homolog family member C gene DOID:9007102 Myocardial Ischemia ISO RGD:1312711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12410457 LRRC55 leucine rich repeat containing 55 gene DOID:1059 intellectual disability ISO RGD:1603880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12410457 LRRC55 leucine rich repeat containing 55 gene DOID:630 genetic disease ISO RGD:1603880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410464 DPF2 double PHD fingers 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1323292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12410464 DPF2 double PHD fingers 2 gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1323292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 PMID:25741868|PMID:29429572 12410464 DPF2 double PHD fingers 2 gene DOID:0112369 Coffin-Siris syndrome 7 ISO RGD:1323292 D RGD:7240710 20190315 OMIM 12410464 DPF2 double PHD fingers 2 gene DOID:0112369 Coffin-Siris syndrome 7 ISO RGD:1323292 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 7 PMID:25741868|PMID:28492532|PMID:29429572|PMID:29429672|PMID:31207137 12410464 DPF2 double PHD fingers 2 gene DOID:1059 intellectual disability ISO RGD:1323292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12410464 DPF2 double PHD fingers 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12410464 DPF2 double PHD fingers 2 gene DOID:2746 glycogen storage disease V ISO RGD:1323292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12410464 DPF2 double PHD fingers 2 gene DOID:3070 high grade glioma ISO RGD:1323292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12410464 DPF2 double PHD fingers 2 gene DOID:630 genetic disease ISO RGD:1323292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:28533407|PMID:29429572 12410464 DPF2 double PHD fingers 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1323292 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12410464 DPF2 double PHD fingers 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1323292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12410464 DPF2 double PHD fingers 2 gene DOID:9008582 Developmental Disease ISO RGD:1323292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12410482 SERTAD1 SERTA domain containing 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1353244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12410482 SERTAD1 SERTA domain containing 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1353244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12410482 SERTAD1 SERTA domain containing 1 gene DOID:2340 craniosynostosis ISO RGD:1353244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12410482 SERTAD1 SERTA domain containing 1 gene DOID:630 genetic disease ISO RGD:1353244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410482 SERTAD1 SERTA domain containing 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1353244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12410482 SERTAD1 SERTA domain containing 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1353244 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18097604 12410482 SERTAD1 SERTA domain containing 1 gene DOID:9269 maple syrup urine disease ISO RGD:1353244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12410491 SYS1 SYS1 golgi trafficking protein gene DOID:2234 focal epilepsy ISO RGD:1602841 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12410491 SYS1 SYS1 golgi trafficking protein gene DOID:2377 multiple sclerosis ISO RGD:1602841 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 12410491 SYS1 SYS1 golgi trafficking protein gene DOID:630 genetic disease ISO RGD:1602841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410491 SYS1 SYS1 golgi trafficking protein gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1602841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12410498 NKX2-6 NK2 homeobox 6 gene DOID:0050650 familial atrial fibrillation susceptibility ISO RGD:1603362 D RGD:9068941 20230128 RGD DNA:missense mutation:CDS:p.Q175H (human) PMID:25319568|REF_RGD_ID:155882443 12410498 NKX2-6 NK2 homeobox 6 gene DOID:13938 amenorrhea ISO RGD:1603362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12410498 NKX2-6 NK2 homeobox 6 gene DOID:1657 ventricular septal defect susceptibility ISO RGD:1603362 D RGD:9068941 20230128 RGD DNA:missense mutation:CDS:p.K152Q (human) PMID:25380965|REF_RGD_ID:155882444 12410498 NKX2-6 NK2 homeobox 6 gene DOID:1969 cerebral palsy ISO RGD:1603362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12410498 NKX2-6 NK2 homeobox 6 gene DOID:630 genetic disease ISO RGD:1603362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410498 NKX2-6 NK2 homeobox 6 gene DOID:9003752 Persistent Truncus Arteriosus ISO RGD:1603362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Persistent truncus arteriosus PMID:15649947 12410498 NKX2-6 NK2 homeobox 6 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1603362 D RGD:7240710 20180530 OMIM 12410498 NKX2-6 NK2 homeobox 6 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1603362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:24421281|PMID:25741868|PMID:28492532 12410502 FGFR1OP2 FGFR1 oncogene partner 2 gene DOID:0070004 myeloid neoplasm ISO RGD:1348205 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22875613 12410502 FGFR1OP2 FGFR1 oncogene partner 2 gene DOID:630 genetic disease ISO RGD:1348205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410530 TMPRSS15 transmembrane serine protease 15 gene DOID:0111667 enterokinase deficiency ISO RGD:1322295 D RGD:7240710 20190315 OMIM 12410530 TMPRSS15 transmembrane serine protease 15 gene DOID:0111667 enterokinase deficiency ISO RGD:1322295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enterokinase deficiency PMID:1147667|PMID:11719902|PMID:16199547|PMID:25741868|PMID:28492532|PMID:4322674 12410530 TMPRSS15 transmembrane serine protease 15 gene DOID:10652 Alzheimer's disease ISO RGD:1322295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 12410530 TMPRSS15 transmembrane serine protease 15 gene DOID:630 genetic disease ISO RGD:1322295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12410530 TMPRSS15 transmembrane serine protease 15 gene DOID:9004324 Congenital, Hereditary, and Neonatal Diseases and Abnormalities ISO RGD:1322295 D RGD:9068941 20200609 RGD PMID:11719902|REF_RGD_ID:1599212 12410530 TMPRSS15 transmembrane serine protease 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12410558 ARHGEF38 Rho guanine nucleotide exchange factor 38 gene DOID:630 genetic disease ISO RGD:1603216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410576 IRS4 insulin receptor substrate 4 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1352224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 12410576 IRS4 insulin receptor substrate 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12410576 IRS4 insulin receptor substrate 4 gene DOID:0111835 congenital nongoitrous hypothyroidism 9 ISO RGD:1352224 D RGD:7240710 20191002 OMIM 12410576 IRS4 insulin receptor substrate 4 gene DOID:0111835 congenital nongoitrous hypothyroidism 9 ISO RGD:1352224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 9 PMID:25741868|PMID:30061370 12410576 IRS4 insulin receptor substrate 4 gene DOID:12849 autistic disorder ISO RGD:1352224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12410576 IRS4 insulin receptor substrate 4 gene DOID:1324 lung cancer treatment ISO RGD:1352224 D RGD:9068941 20220210 RGD human cells in mouse model PMID:33894221|REF_RGD_ID:151347872 12410576 IRS4 insulin receptor substrate 4 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352224 D RGD:9068941 20220210 RGD protein:increased expression:lung (human) PMID:33894221|REF_RGD_ID:151347872 12410576 IRS4 insulin receptor substrate 4 gene DOID:630 genetic disease ISO RGD:1352224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410576 IRS4 insulin receptor substrate 4 gene DOID:9256 colorectal cancer ISO RGD:1352224 D RGD:9068941 20220210 RGD protein:increased expression:colorectum (human) PMID:29353348|REF_RGD_ID:151347867 12410576 IRS4 insulin receptor substrate 4 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1352224 D RGD:9068941 20220210 RGD protein:increased expression:colorectal mucosa (human) PMID:29185229|REF_RGD_ID:151347868 12410576 IRS4 insulin receptor substrate 4 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1352224 D RGD:9068941 20220210 RGD protein:increased expression:colorectum (human) PMID:30410539|REF_RGD_ID:151347869 12410586 PLXNA3 plexin A3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349180 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12410586 PLXNA3 plexin A3 gene DOID:0050476 Barth syndrome ISO RGD:1349180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12410586 PLXNA3 plexin A3 gene DOID:0050800 creatine transporter deficiency ISO RGD:1349180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12410586 PLXNA3 plexin A3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12410586 PLXNA3 plexin A3 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1349180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 12410586 PLXNA3 plexin A3 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 12410586 PLXNA3 plexin A3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1349180 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12410586 PLXNA3 plexin A3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1349180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12410586 PLXNA3 plexin A3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12410586 PLXNA3 plexin A3 gene DOID:12849 autistic disorder ISO RGD:1349180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12410586 PLXNA3 plexin A3 gene DOID:13628 favism ISO RGD:1349180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12410586 PLXNA3 plexin A3 gene DOID:1921 Klinefelter syndrome ISO RGD:1349180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 12410586 PLXNA3 plexin A3 gene DOID:1923 disorder of sexual development ISO RGD:1349180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 12410586 PLXNA3 plexin A3 gene DOID:2729 dyskeratosis congenita ISO RGD:1349180 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12410586 PLXNA3 plexin A3 gene DOID:607 paraplegia ISO RGD:1349180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12410586 PLXNA3 plexin A3 gene DOID:630 genetic disease ISO RGD:1349180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12410586 PLXNA3 plexin A3 gene DOID:9002720 Splenomegaly ISO RGD:1349180 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12410586 PLXNA3 plexin A3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12410586 PLXNA3 plexin A3 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1349180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 12410586 PLXNA3 plexin A3 gene DOID:9007661 Dwarfism ISO RGD:1349180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12410586 PLXNA3 plexin A3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1349180 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21933904 12410624 ING5 inhibitor of growth family member 5 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1317373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12410624 ING5 inhibitor of growth family member 5 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1317373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 12410624 ING5 inhibitor of growth family member 5 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1317373 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 12410624 ING5 inhibitor of growth family member 5 gene DOID:1059 intellectual disability ISO RGD:1317373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12410624 ING5 inhibitor of growth family member 5 gene DOID:630 genetic disease ISO RGD:1317373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410624 ING5 inhibitor of growth family member 5 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1317373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12410639 ST13 ST13 Hsp70 interacting protein gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:733794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12410639 ST13 ST13 Hsp70 interacting protein gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:733794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:15706485|PMID:24476420|PMID:28492532 12410639 ST13 ST13 Hsp70 interacting protein gene DOID:630 genetic disease ISO RGD:733794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410655 PIK3R6 phosphoinositide-3-kinase regulatory subunit 6 gene DOID:630 genetic disease ISO RGD:1353016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410685 UTS2B urotensin 2B gene DOID:5419 schizophrenia ISO RGD:1603529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12410685 UTS2B urotensin 2B gene DOID:630 genetic disease ISO RGD:1603529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410696 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:0111681 glutamate-cysteine ligase deficiency ISO RGD:736793 D RGD:7240710 20230505 OMIM 12410696 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:0111681 glutamate-cysteine ligase deficiency ISO RGD:736793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gamma-glutamylcysteine synthetase deficiency PMID:10515893|PMID:25741868|PMID:28492532 12410696 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:10629 microphthalmia ISO RGD:736793 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:35123994 12410696 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:10763 hypertension ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 12410696 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:1485 cystic fibrosis ISO RGD:736793 D RGD:9068941 20200609 RGD PMID:16690975|REF_RGD_ID:5134682 12410696 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:2773 contact dermatitis ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12410696 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:3908 lung non-small cell carcinoma ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 12410696 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:5082 liver cirrhosis ISO RGD:619868 D RGD:9068941 20200609 RGD PMID:22942279|REF_RGD_ID:11049542 12410696 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:583 hemolytic anemia ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10515893 12410696 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:583 hemolytic anemia ISO RGD:736793 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: 473C>T (p.158L)(human) PMID:10733484|REF_RGD_ID:11049537 12410696 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:5844 myocardial infarction ISO RGD:736793 D RGD:7240710 20230505 OMIM 12410696 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:5844 myocardial infarction ISO RGD:736793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:12598062 12410696 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:630 genetic disease ISO RGD:736793 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12410696 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:83 cataract ISO RGD:10652 D RGD:9068941 20220825 MouseDO OMIM:601371 12410696 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:9000018 Coronary Vessel Anomalies ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12598062 12410696 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:9005172 Lung Neoplasms ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12410696 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:9007102 Myocardial Ischemia ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12410696 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:619868 D RGD:9068941 20200609 RGD PMID:17573345|REF_RGD_ID:10402383 12410696 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19481141 12410696 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30940545 12410696 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:9008691 Liver Injury treatment ISO RGD:619868 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:24944771|REF_RGD_ID:10402380 12410696 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:9008945 Gram-Negative Bacterial Infections susceptibility ISO RGD:736793 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:SNP,haplotype:promoter:-129C >T,-3506A >G (human) PMID:24593045|REF_RGD_ID:10401929 12410696 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:9252 amino acid metabolic disorder ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10515893 12410696 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:736793 D RGD:9068941 20200609 RGD mRNA:increased expression:colon: PMID:8705999|REF_RGD_ID:11049536 12410696 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:9352 type 2 diabetes mellitus ISO RGD:736793 D RGD:9068941 20200910 CTD CTD Direct Evidence: therapeutic PMID:32715377 12410696 GCLC glutamate-cysteine ligase catalytic subunit gene DOID:9675 pulmonary emphysema ISO RGD:619868 D RGD:9068941 20200609 RGD PMID:19879314|REF_RGD_ID:5134681 12410717 NOXRED1 NADP dependent oxidoreductase domain containing 1 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1348173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 12410717 NOXRED1 NADP dependent oxidoreductase domain containing 1 gene DOID:630 genetic disease ISO RGD:1348173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410731 MDFIC MyoD family inhibitor domain containing gene DOID:0081030 central conducting lymphatic anomaly ISO RGD:1553252 D RGD:9068941 20220825 MouseDO OMIM:617300 12410731 MDFIC MyoD family inhibitor domain containing gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1607030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12410731 MDFIC MyoD family inhibitor domain containing gene DOID:630 genetic disease ISO RGD:1607030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410731 MDFIC MyoD family inhibitor domain containing gene DOID:9002507 Lymphatic Malformation 12 ISO RGD:1607030 D RGD:7240710 20220831 OMIM 12410731 MDFIC MyoD family inhibitor domain containing gene DOID:9002507 Lymphatic Malformation 12 ISO RGD:1607030 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 12 PMID:35235341 12410749 TAS2R42 taste receptor, type 2, member 42 gene DOID:630 genetic disease ISO RGD:1344406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410755 OPCML opioid binding protein/cell adhesion molecule like gene DOID:0111723 Jacobsen Syndrome ISO RGD:731778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12410755 OPCML opioid binding protein/cell adhesion molecule like gene DOID:2394 ovarian cancer ISO RGD:731778 D RGD:7240710 20190213 OMIM 12410755 OPCML opioid binding protein/cell adhesion molecule like gene DOID:5419 schizophrenia ISO RGD:731778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12410755 OPCML opioid binding protein/cell adhesion molecule like gene DOID:630 genetic disease ISO RGD:731778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410755 OPCML opioid binding protein/cell adhesion molecule like gene DOID:9002762 Ovarian Neoplasms ISO RGD:731778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:12819783 12410755 OPCML opioid binding protein/cell adhesion molecule like gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:731778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12410773 DECR2 2,4-dienoyl-CoA reductase 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:735964 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12410773 DECR2 2,4-dienoyl-CoA reductase 2 gene DOID:1826 epilepsy ISO RGD:735964 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 12410773 DECR2 2,4-dienoyl-CoA reductase 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:735964 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12410773 DECR2 2,4-dienoyl-CoA reductase 2 gene DOID:630 genetic disease ISO RGD:735964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410785 MMP21 matrix metallopeptidase 21 gene DOID:0050545 visceral heterotaxy ISO RGD:1319622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral heterotaxy PMID:24033266|PMID:25741868|PMID:26437028 12410785 MMP21 matrix metallopeptidase 21 gene DOID:37 skin disease ISO RGD:1319622 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16984259 12410785 MMP21 matrix metallopeptidase 21 gene DOID:4415 fibrous histiocytoma ISO RGD:1319622 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16984259 12410785 MMP21 matrix metallopeptidase 21 gene DOID:630 genetic disease ISO RGD:1319622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410785 MMP21 matrix metallopeptidase 21 gene DOID:9008364 Visceral Heterotaxy 7, Autosomal ISO RGD:1319622 D RGD:7240710 20190315 OMIM 12410785 MMP21 matrix metallopeptidase 21 gene DOID:9008364 Visceral Heterotaxy 7, Autosomal ISO RGD:1319622 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 7, autosomal PMID:24033266|PMID:25741868|PMID:26437028|PMID:28492532 12410796 PYURF PIGY upstream open reading frame gene DOID:630 genetic disease ISO RGD:6893022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12410796 PYURF PIGY upstream open reading frame gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:6893022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12410796 PYURF PIGY upstream open reading frame gene DOID:9001811 Hyperphosphatasia with Impaired Intellectual Development Syndrome 6 ISO RGD:6893022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 12 PMID:25741868|PMID:26293662|PMID:28492532 12410862 TCF4 transcription factor 4 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:732921 D RGD:7240710 20180130 OMIM 12410862 TCF4 transcription factor 4 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:732921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome PMID:12032737|PMID:12848929|PMID:16199547|PMID:16531728|PMID:17436254|PMID:17436255|PMID:17576681|PMID:18414213|PMID:18728071|PMID:18992165|PMID:19235238|PMID:19938247|PMID:21671391|PMID:22045651|PMID:22460224|PMID:22777675|PMID:22934316|PMID:23033978|PMID:23165966|PMID:23248353|PMID:24077912|PMID:24088041|PMID:24126932|PMID:25167861|PMID:25326635|PMID:25326637|PMID:25693842|PMID:25741868|PMID:26010163|PMID:26350204|PMID:26467025|PMID:26621827|PMID:26633545|PMID:26993267|PMID:28166811|PMID:28492532|PMID:28554332|PMID:28631899|PMID:28708303|PMID:28726809|PMID:28807867|PMID:29318938|PMID:29322350|PMID:29695756|PMID:32581362|PMID:32860008|PMID:33624935|PMID:9536098 12410862 TCF4 transcription factor 4 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:732921 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome PMID:12032737|PMID:12848929|PMID:16199547|PMID:16531728|PMID:17436254|PMID:17436255|PMID:17576681|PMID:18414213|PMID:18728071|PMID:18992165|PMID:19235238|PMID:19938247|PMID:21671391|PMID:22045651|PMID:22460224|PMID:22777675|PMID:22934316|PMID:23033978|PMID:23165966|PMID:23248353|PMID:24077912|PMID:24088041|PMID:24126932|PMID:25167861|PMID:25326635|PMID:25326637|PMID:25693842|PMID:25741868|PMID:26010163|PMID:26467025|PMID:26621827|PMID:26633545|PMID:26993267|PMID:27179618|PMID:28492532|PMID:28631899|PMID:28708303|PMID:28726809|PMID:28951451|PMID:29318938|PMID:29322350|PMID:29695756|PMID:32581362|PMID:32860008|PMID:33624935|PMID:9536098 12410862 TCF4 transcription factor 4 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:732921 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome PMID:12032737|PMID:12848929|PMID:16199547|PMID:16531728|PMID:17436254|PMID:17436255|PMID:17576681|PMID:18414213|PMID:18728071|PMID:18992165|PMID:19235238|PMID:19938247|PMID:21671391|PMID:22045651|PMID:22460224|PMID:22777675|PMID:22934316|PMID:23033978|PMID:23165966|PMID:23248353|PMID:24077912|PMID:24088041|PMID:24126932|PMID:25167861|PMID:25326635|PMID:25326637|PMID:25693842|PMID:25741868|PMID:26010163|PMID:26467025|PMID:26621827|PMID:26633545|PMID:26993267|PMID:27179618|PMID:28492532|PMID:28631899|PMID:28708303|PMID:28726809|PMID:28951451|PMID:29318938|PMID:29322350|PMID:29695756|PMID:32056211|PMID:32581362|PMID:32860008|PMID:33624935|PMID:9536098 12410862 TCF4 transcription factor 4 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:732921 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome PMID:12032737|PMID:12848929|PMID:16199547|PMID:16531728|PMID:17436254|PMID:17436255|PMID:17576681|PMID:18414213|PMID:18728071|PMID:18992165|PMID:19235238|PMID:19938247|PMID:21671391|PMID:22045651|PMID:22460224|PMID:22678594|PMID:22777675|PMID:22934316|PMID:23020937|PMID:23033978|PMID:23165966|PMID:23248353|PMID:24077912|PMID:24088041|PMID:24126932|PMID:25167861|PMID:25326635|PMID:25326637|PMID:25356899|PMID:25693842|PMID:25741868|PMID:25780760|PMID:26010163|PMID:26350204|PMID:26467025|PMID:26621827|PMID:26633545|PMID:26993267|PMID:27179618|PMID:28492532|PMID:28631899|PMID:28708303|PMID:28726809|PMID:28951451|PMID:29158550|PMID:29318938|PMID:29322350|PMID:29604340|PMID:29655203|PMID:29695756|PMID:31428121|PMID:31785789|PMID:31981491|PMID:32056211|PMID:32581362|PMID:32860008|PMID:33624935|PMID:33767182|PMID:34128147|PMID:34837432|PMID:9536098 12410862 TCF4 transcription factor 4 gene DOID:0110241 cataract 41 ISO RGD:732921 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cataract 41 PMID:25741868 12410862 TCF4 transcription factor 4 gene DOID:10485 esophageal atresia ISO RGD:732921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia PMID:28492532 12410862 TCF4 transcription factor 4 gene DOID:1059 intellectual disability ISO RGD:732921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Severe intellectual deficiency PMID:12032737|PMID:16531728|PMID:17436254|PMID:17436255|PMID:18728071|PMID:19235238|PMID:22045651|PMID:22460224|PMID:22777675|PMID:25167861|PMID:25741868|PMID:26621827|PMID:26993267|PMID:28492532|PMID:29318938|PMID:33624935 12410862 TCF4 transcription factor 4 gene DOID:10907 microcephaly ISO RGD:732921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:18728071|PMID:21671391|PMID:22045651|PMID:22460224|PMID:25741868|PMID:28492532|PMID:28708303|PMID:29655203|PMID:29695756|PMID:32581362 12410862 TCF4 transcription factor 4 gene DOID:114 heart disease ISO RGD:732921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 12410862 TCF4 transcription factor 4 gene DOID:1826 epilepsy ISO RGD:732921 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure 12410862 TCF4 transcription factor 4 gene DOID:2303 stereotypic movement disorder ISO RGD:732921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:25741868 12410862 TCF4 transcription factor 4 gene DOID:3883 Lynch syndrome ISO RGD:732921 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 12410862 TCF4 transcription factor 4 gene DOID:5419 schizophrenia ISO RGD:735359 D RGD:9068941 20220825 MouseDO OMIM:181500 12410862 TCF4 transcription factor 4 gene DOID:574 peripheral nervous system disease ISO RGD:732921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21228734 12410862 TCF4 transcription factor 4 gene DOID:630 genetic disease ISO RGD:732921 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12032737|PMID:12848929|PMID:16531728|PMID:17436254|PMID:17436255|PMID:18414213|PMID:18728071|PMID:19235238|PMID:19938247|PMID:21671391|PMID:22040220|PMID:22045651|PMID:22460224|PMID:22777675|PMID:23033978|PMID:24126932|PMID:25167861|PMID:25741868|PMID:26010163|PMID:26467025|PMID:26621827|PMID:27179618|PMID:28492532|PMID:28708303|PMID:28726809|PMID:28951451|PMID:29318938|PMID:29604340|PMID:29655203|PMID:29695756|PMID:31428121|PMID:32581362|PMID:33624935 12410862 TCF4 transcription factor 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12410862 TCF4 transcription factor 4 gene DOID:9003132 Sialorrhea ISO RGD:732921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Drooling PMID:25741868 12410862 TCF4 transcription factor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12410862 TCF4 transcription factor 4 gene DOID:9005539 Familial Prostate Cancer ISO RGD:732921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12410862 TCF4 transcription factor 4 gene DOID:9007 sudden infant death syndrome ISO RGD:732921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 12410862 TCF4 transcription factor 4 gene DOID:9007188 Liver Neoplasms ISO RGD:732921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12410862 TCF4 transcription factor 4 gene DOID:9008049 Corneal Dystrophy, Fuchs Endothelial, 3 ISO RGD:732921 D RGD:7240710 20180130 OMIM 12410862 TCF4 transcription factor 4 gene DOID:9008049 Corneal Dystrophy, Fuchs Endothelial, 3 ISO RGD:732921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 3 PMID:18414213|PMID:18728071|PMID:25741868|PMID:26467025|PMID:28492532 12410862 TCF4 transcription factor 4 gene DOID:9008086 Developmental Disabilities ISO RGD:732921 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22678594|PMID:25741868|PMID:25741890|PMID:34128147|PMID:34837432 12410862 TCF4 transcription factor 4 gene DOID:9008582 Developmental Disease ISO RGD:732921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12410862 TCF4 transcription factor 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17436254 12410885 UTRN utrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:10479 D RGD:9068941 20200609 RGD PMID:9288751|REF_RGD_ID:737706 12410885 UTRN utrophin gene DOID:2394 ovarian cancer ISO RGD:731341 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17031801|REF_RGD_ID:2300329 12410885 UTRN utrophin gene DOID:630 genetic disease ISO RGD:731341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12410985 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:0050562 West syndrome ISO RGD:731284 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16919904 12410985 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:0050857 Perrault syndrome ISO RGD:731284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:10419023|PMID:10497229|PMID:11810648|PMID:15216544|PMID:16385454|PMID:20673864|PMID:22864515|PMID:23181892|PMID:24033266|PMID:24108619|PMID:25741868|PMID:25967389|PMID:26243799|PMID:26970254|PMID:27790638|PMID:28017249|PMID:28492532|PMID:28708278|PMID:28830375|PMID:31455392|PMID:4061497|PMID:9482850|PMID:9915948 12410985 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12410985 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:0080600 COVID-19 ISO RGD:731284 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12410985 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:0090031 D-bifunctional protein deficiency ISO RGD:731284 D RGD:7240710 20180130 OMIM 12410985 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:0090031 D-bifunctional protein deficiency ISO RGD:731284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: DBP deficiency PMID:10400999|PMID:10419023|PMID:10497229|PMID:10671535|PMID:10748062|PMID:11330053|PMID:11743515|PMID:11810648|PMID:11992265|PMID:12562856|PMID:16199547|PMID:16385454|PMID:17576681|PMID:20673864|PMID:20681997|PMID:22507161|PMID:22864515|PMID:23100014|PMID:23181892|PMID:23308274|PMID:23332201|PMID:24033266|PMID:24108619|PMID:24553428|PMID:24602372|PMID:25741868|PMID:25882080|PMID:25954003|PMID:25967389|PMID:26243799|PMID:26467025|PMID:26970254|PMID:27243974|PMID:27290639|PMID:27528516|PMID:27618451|PMID:27650058|PMID:27790638|PMID:28017249|PMID:28490743|PMID:28492532|PMID:28649525|PMID:2868085|PMID:28708278|PMID:2882519|PMID:28830375|PMID:28973083|PMID:2921319|PMID:30396834|PMID:30561787|PMID:31230720|PMID:31455392|PMID:32042923|PMID:33510602|PMID:33539324|PMID:34440436|PMID:34660840|PMID:8279468|PMID:9345094|PMID:9482850|PMID:9536098|PMID:9915948 12410985 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:0090031 D-bifunctional protein deficiency severity ISO RGD:731284 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:16385454|REF_RGD_ID:10411884 12410985 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:10763 hypertension ISO RGD:621806 D RGD:9068941 20200609 RGD mRNA:decreased expression:renal cortex (rat) PMID:18430809|REF_RGD_ID:2292646 12410985 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:13366 Stiff-Person syndrome ISO RGD:731284 D RGD:9068941 20200609 RGD PMID:12225901|REF_RGD_ID:10411898 12410985 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:630 genetic disease ISO RGD:731284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11810648|PMID:16385454|PMID:22864515|PMID:24033266|PMID:25741868|PMID:25954003|PMID:25967389|PMID:27618451|PMID:27790638|PMID:28490743|PMID:28492532|PMID:28649525|PMID:31230720 12410985 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:9003326 Perrault Syndrome 1 ISO RGD:731284 D RGD:7240710 20180130 OMIM 12410985 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:9003326 Perrault Syndrome 1 ISO RGD:731284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Perrault syndrome 1 PMID:10419023|PMID:10497229|PMID:11810648|PMID:15216544|PMID:16385454|PMID:17576681|PMID:20673864|PMID:22864515|PMID:23181892|PMID:23332201|PMID:24033266|PMID:24108619|PMID:24553428|PMID:25741868|PMID:25967389|PMID:26243799|PMID:26467025|PMID:26970254|PMID:27790638|PMID:28017249|PMID:28492532|PMID:28708278|PMID:28830375|PMID:31230720|PMID:31455392|PMID:32747562|PMID:33539324|PMID:34906502|PMID:4061497|PMID:9482850|PMID:9536098|PMID:9915948 12410985 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12410985 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:9006534 Nervous System Malformations ISO RGD:731284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12410985 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12410985 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:9008301 Pseudo-Zellweger Syndrome ISO RGD:731284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pseudo Zellweger syndrome PMID:10419023|PMID:10497229|PMID:16385454|PMID:22864515|PMID:23181892|PMID:24033266|PMID:24108619|PMID:25741868|PMID:25967389|PMID:26970254|PMID:28492532|PMID:28708278|PMID:9482850|PMID:9915948 12410985 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:905 Zellweger syndrome ISO RGD:731284 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10343282 12410985 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:906 peroxisomal disease ISO RGD:731284 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16385454|PMID:9345094 12411019 FBP1 fructose-bisphosphatase 1 gene DOID:12642 hiatus hernia ISO RGD:735552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hiatus hernia 12411019 FBP1 fructose-bisphosphatase 1 gene DOID:14330 Parkinson's disease ISO RGD:735552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18353766 12411019 FBP1 fructose-bisphosphatase 1 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:735552 D RGD:7240710 20180130 OMIM 12411019 FBP1 fructose-bisphosphatase 1 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:735552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fructose-biphosphatase deficiency PMID:11286391|PMID:12126934|PMID:17576681|PMID:19259699|PMID:20096900|PMID:23881342|PMID:25601412|PMID:25741868|PMID:26549536|PMID:27101822|PMID:28420223|PMID:28492532|PMID:28776561|PMID:29016355|PMID:29203193|PMID:29774539|PMID:29774540|PMID:29774541|PMID:29774542|PMID:29774543|PMID:29774544|PMID:29774545|PMID:30193751|PMID:30858132|PMID:30927757|PMID:7763253|PMID:9382095|PMID:9536098 12411019 FBP1 fructose-bisphosphatase 1 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:735552 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Fructose-biphosphatase deficiency PMID:11286391|PMID:12126934|PMID:17576681|PMID:19259699|PMID:20096900|PMID:23881342|PMID:25601412|PMID:25741868|PMID:26549536|PMID:27101822|PMID:28420223|PMID:28492532|PMID:28776561|PMID:29016355|PMID:29203193|PMID:29774539|PMID:29774540|PMID:29774541|PMID:29774542|PMID:29774543|PMID:29774544|PMID:29774545|PMID:30193751|PMID:30858132|PMID:30927757|PMID:31584309|PMID:7763253|PMID:9382095|PMID:9536098 12411019 FBP1 fructose-bisphosphatase 1 gene DOID:5419 schizophrenia ISO RGD:735552 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12411019 FBP1 fructose-bisphosphatase 1 gene DOID:630 genetic disease ISO RGD:735552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25601412|PMID:25741868|PMID:26549536|PMID:28420223|PMID:28492532|PMID:28776561|PMID:30193751|PMID:30927757|PMID:7763253|PMID:9382095 12411019 FBP1 fructose-bisphosphatase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22039417 12411019 FBP1 fructose-bisphosphatase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22039417 12411019 FBP1 fructose-bisphosphatase 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:735552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22039417 12411019 FBP1 fructose-bisphosphatase 1 gene DOID:9004590 Acute Liver Failure ISO RGD:735552 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 12411033 A2M alpha-2-macroglobulin gene DOID:0050868 hepatocellular adenoma ISO RGD:2004 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:15509519|REF_RGD_ID:1358261 12411033 A2M alpha-2-macroglobulin gene DOID:0050868 hepatocellular adenoma ISO RGD:735738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15509519 12411033 A2M alpha-2-macroglobulin gene DOID:0080600 COVID-19 ISO RGD:735738 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12411033 A2M alpha-2-macroglobulin gene DOID:0080600 COVID-19 severity ISO RGD:735738 D RGD:9068941 20200813 RGD DNA:SNPs: : PMID:32747830|REF_RGD_ID:38500238 12411033 A2M alpha-2-macroglobulin gene DOID:10113 trypanosomiasis ISO RGD:2004 D RGD:9068941 20200609 RGD PMID:17722867|REF_RGD_ID:10046041 12411033 A2M alpha-2-macroglobulin gene DOID:10652 Alzheimer's disease ISO RGD:735738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALPHA-2-MACROGLOBULIN POLYMORPHISM PMID:1370808|PMID:15023809|PMID:1717945|PMID:24033266|PMID:9697696|PMID:9811940 12411033 A2M alpha-2-macroglobulin gene DOID:10652 Alzheimer's disease no_association ISO RGD:735738 D RGD:9068941 20200609 RGD PMID:10319853|REF_RGD_ID:1300322 12411033 A2M alpha-2-macroglobulin gene DOID:10652 Alzheimer's disease no_association ISO RGD:735738 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.I1000V (human) PMID:10936700|REF_RGD_ID:10046015 12411033 A2M alpha-2-macroglobulin gene DOID:10652 Alzheimer's disease no_association ISO RGD:735738 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple PMID:12966032|REF_RGD_ID:10046016 12411033 A2M alpha-2-macroglobulin gene DOID:10652 Alzheimer's disease onset ISO RGD:735738 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.I1000V (human) PMID:12133586|REF_RGD_ID:10046014 12411033 A2M alpha-2-macroglobulin gene DOID:10754 otitis media treatment ISO RGD:8779469 D RGD:9068941 20200609 RGD PMID:2459981|PMID:2473673|REF_RGD_ID:11553864|REF_RGD_ID:11553918 12411033 A2M alpha-2-macroglobulin gene DOID:10976 membranous glomerulonephritis ISO RGD:2004 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9453001|REF_RGD_ID:10046046 12411033 A2M alpha-2-macroglobulin gene DOID:11372 megacolon ISO RGD:735738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12411033 A2M alpha-2-macroglobulin gene DOID:114 heart disease ISO RGD:735738 D RGD:9068941 20200609 RGD associated with HIV Infections;protein:increased expression:serum PMID:20005173|REF_RGD_ID:10046031 12411033 A2M alpha-2-macroglobulin gene DOID:11506 suppurative otitis media ISO RGD:8779469 D RGD:9068941 20200609 RGD PMID:1696441|REF_RGD_ID:11556250 12411033 A2M alpha-2-macroglobulin gene DOID:1184 nephrotic syndrome ISO RGD:2004 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9453001|REF_RGD_ID:10046046 12411033 A2M alpha-2-macroglobulin gene DOID:1184 nephrotic syndrome ISO RGD:735738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11304663 12411033 A2M alpha-2-macroglobulin gene DOID:13208 background diabetic retinopathy treatment ISO RGD:735738 D RGD:9068941 20200609 RGD PMID:10848441|REF_RGD_ID:10046010 12411033 A2M alpha-2-macroglobulin gene DOID:14115 toxic shock syndrome treatment ISO RGD:2004 D RGD:9068941 20200609 RGD PMID:2424486|REF_RGD_ID:10046036 12411033 A2M alpha-2-macroglobulin gene DOID:14330 Parkinson's disease onset ISO RGD:735738 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.I1000V (human) PMID:12133586|REF_RGD_ID:10046014 12411033 A2M alpha-2-macroglobulin gene DOID:2320 obstructive lung disease ISO RGD:735738 D RGD:9068941 20200609 RGD PMID:2475424|REF_RGD_ID:1300321 12411033 A2M alpha-2-macroglobulin gene DOID:2377 multiple sclerosis ISO RGD:735738 D RGD:9068941 20200609 RGD PMID:11498265|REF_RGD_ID:1549857 12411033 A2M alpha-2-macroglobulin gene DOID:3021 acute kidney failure ISO RGD:735738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23052191 12411033 A2M alpha-2-macroglobulin gene DOID:3526 cerebral infarction disease_progression ISO RGD:735738 D RGD:9068941 20200609 RGD PMID:28266892|REF_RGD_ID:13702087 12411033 A2M alpha-2-macroglobulin gene DOID:5082 liver cirrhosis ISO RGD:735738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 12411033 A2M alpha-2-macroglobulin gene DOID:583 hemolytic anemia ISO RGD:2004 D RGD:9068941 20200609 RGD PMID:11952820|REF_RGD_ID:704364 12411033 A2M alpha-2-macroglobulin gene DOID:630 genetic disease ISO RGD:735738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411033 A2M alpha-2-macroglobulin gene DOID:684 hepatocellular carcinoma ISO RGD:2004 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:15509519|REF_RGD_ID:1358261 12411033 A2M alpha-2-macroglobulin gene DOID:684 hepatocellular carcinoma ISO RGD:735738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15509519 12411033 A2M alpha-2-macroglobulin gene DOID:8283 peritonitis ISO RGD:2004 D RGD:9068941 20200609 RGD PMID:16538883|REF_RGD_ID:1598512 12411033 A2M alpha-2-macroglobulin gene DOID:850 lung disease ISO RGD:735738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2475424 12411033 A2M alpha-2-macroglobulin gene DOID:893 Wilson disease ISO RGD:735738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 12411033 A2M alpha-2-macroglobulin gene DOID:9000972 Fever ISO RGD:2004 D RGD:9068941 20200609 RGD PMID:2460123|REF_RGD_ID:10046042 12411033 A2M alpha-2-macroglobulin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12411033 A2M alpha-2-macroglobulin gene DOID:9002457 Experimental Arthritis ISO RGD:2004 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:6163339|REF_RGD_ID:10046032 12411033 A2M alpha-2-macroglobulin gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:2004 D RGD:9068941 20200609 RGD PMID:1710603|REF_RGD_ID:10046021 12411033 A2M alpha-2-macroglobulin gene DOID:9002928 Colonic Neoplasms ISO RGD:735738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12411033 A2M alpha-2-macroglobulin gene DOID:9003049 Femur Head Necrosis ISO RGD:2004 D RGD:9068941 20200609 RGD mRNA:increased expression:head of femur PMID:20579363|REF_RGD_ID:10046018 12411033 A2M alpha-2-macroglobulin gene DOID:9003936 Cardiomegaly ISO RGD:2004 D RGD:9068941 20200609 RGD PMID:12494268|REF_RGD_ID:1549856 12411033 A2M alpha-2-macroglobulin gene DOID:9004484 Sepsis ISO RGD:2004 D RGD:9068941 20200609 RGD PMID:9843780|REF_RGD_ID:1598509 12411033 A2M alpha-2-macroglobulin gene DOID:9004484 Sepsis ISO RGD:2004 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:15167684|REF_RGD_ID:10046033 12411033 A2M alpha-2-macroglobulin gene DOID:9005172 Lung Neoplasms ISO RGD:735738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17902193|PMID:19180532 12411033 A2M alpha-2-macroglobulin gene DOID:9005372 Inflammation ISO RGD:2004 D RGD:9068941 20200609 RGD PMID:6202298|REF_RGD_ID:10046045 12411033 A2M alpha-2-macroglobulin gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:2004 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21742475|REF_RGD_ID:10046044 12411033 A2M alpha-2-macroglobulin gene DOID:9007271 Hypoalbuminemia ISO RGD:2004 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9453001|REF_RGD_ID:10046046 12411033 A2M alpha-2-macroglobulin gene DOID:9007730 Burns ISO RGD:2004 D RGD:9068941 20200609 RGD PMID:14960360|REF_RGD_ID:1598513 12411033 A2M alpha-2-macroglobulin gene DOID:9008821 Otitis Media with Effusion ISO RGD:8779469 D RGD:9068941 20200609 RGD PMID:2454602|REF_RGD_ID:11560528 12411073 ABCC13 ATP binding cassette subfamily C member 13 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12411106 PLPP3 phospholipid phosphatase 3 gene DOID:3393 coronary artery disease ISO RGD:1604845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 12411106 PLPP3 phospholipid phosphatase 3 gene DOID:630 genetic disease ISO RGD:1604845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411106 PLPP3 phospholipid phosphatase 3 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1604845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28982073 12411106 PLPP3 phospholipid phosphatase 3 gene DOID:9003936 Cardiomegaly ISO RGD:1604845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28982073 12411116 MNAT1 MNAT1 component of CDK activating kinase gene DOID:630 genetic disease ISO RGD:733503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411116 MNAT1 MNAT1 component of CDK activating kinase gene DOID:9007844 Branchiootic Syndrome 3 ISO RGD:733503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Branchiootic syndrome 3 PMID:25414181|PMID:28492532 12411137 APAF1 apoptotic peptidase activating factor 1 gene DOID:0080074 neural tube defect ISO RGD:733293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:25741868 12411137 APAF1 apoptotic peptidase activating factor 1 gene DOID:0080855 Parkinsonism treatment ISO RGD:733294 D RGD:9068941 20200609 RGD PMID:11535810|REF_RGD_ID:13503334 12411137 APAF1 apoptotic peptidase activating factor 1 gene DOID:11832 visual epilepsy ISO RGD:620575 D RGD:9068941 20200609 RGD protein:increased activity:hippocampus PMID:11753565|REF_RGD_ID:2325750 12411137 APAF1 apoptotic peptidase activating factor 1 gene DOID:14330 Parkinson's disease ISO RGD:733293 D RGD:9068941 20200609 RGD PMID:24835407|REF_RGD_ID:13503333 12411137 APAF1 apoptotic peptidase activating factor 1 gene DOID:1793 pancreatic cancer ISO RGD:733293 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:17224646|REF_RGD_ID:2325739 12411137 APAF1 apoptotic peptidase activating factor 1 gene DOID:219 colon cancer treatment ISO RGD:620575 D RGD:9068941 20200609 RGD PMID:22369161|REF_RGD_ID:13703116 12411137 APAF1 apoptotic peptidase activating factor 1 gene DOID:2316 brain ischemia ISO RGD:620575 D RGD:9068941 20200609 RGD protein:increased expression:striatum PMID:17640469|REF_RGD_ID:2325742 12411137 APAF1 apoptotic peptidase activating factor 1 gene DOID:2671 transitional cell carcinoma ISO RGD:733293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17133271 12411137 APAF1 apoptotic peptidase activating factor 1 gene DOID:3490 Noonan syndrome ISO RGD:733294 D RGD:9068941 20220825 MouseDO 12411137 APAF1 apoptotic peptidase activating factor 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:620575 D RGD:9068941 20200609 RGD PMID:24012531|REF_RGD_ID:13703113 12411137 APAF1 apoptotic peptidase activating factor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733293 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:28982084|REF_RGD_ID:13703106 12411137 APAF1 apoptotic peptidase activating factor 1 gene DOID:4450 renal cell carcinoma ISO RGD:733293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17133271 12411137 APAF1 apoptotic peptidase activating factor 1 gene DOID:5327 retinal detachment ISO RGD:733293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18497877 12411137 APAF1 apoptotic peptidase activating factor 1 gene DOID:630 genetic disease ISO RGD:733293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411137 APAF1 apoptotic peptidase activating factor 1 gene DOID:767 muscular atrophy ISO RGD:620575 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle tissue PMID:17029665|REF_RGD_ID:2325745 12411137 APAF1 apoptotic peptidase activating factor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620575 D RGD:9068941 20200609 RGD PMID:21748659|REF_RGD_ID:10053608 12411137 APAF1 apoptotic peptidase activating factor 1 gene DOID:9000998 Brain Injuries ISO RGD:620575 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:11567033|REF_RGD_ID:2325751 12411137 APAF1 apoptotic peptidase activating factor 1 gene DOID:9001390 Testis Reperfusion Injury treatment ISO RGD:620575 D RGD:9068941 20200609 RGD PMID:27748062|REF_RGD_ID:13703108 12411137 APAF1 apoptotic peptidase activating factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12411137 APAF1 apoptotic peptidase activating factor 1 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:620575 D RGD:9068941 20200609 RGD PMID:22143029|REF_RGD_ID:5686888 12411137 APAF1 apoptotic peptidase activating factor 1 gene DOID:9001946 Skin Abnormalities ISO RGD:733293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9753320 12411137 APAF1 apoptotic peptidase activating factor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:620575 D RGD:9068941 20200609 RGD PMID:18205898|REF_RGD_ID:2292105 12411137 APAF1 apoptotic peptidase activating factor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:620575 D RGD:9068941 20200609 RGD PMID:14973070|REF_RGD_ID:2325748 12411137 APAF1 apoptotic peptidase activating factor 1 gene DOID:9005465 Renal Ischemia treatment ISO RGD:620575 D RGD:9068941 20200609 RGD PMID:25330150|REF_RGD_ID:13703111 12411137 APAF1 apoptotic peptidase activating factor 1 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:620575 D RGD:9068941 20200609 RGD PMID:26362957|REF_RGD_ID:13703110 12411137 APAF1 apoptotic peptidase activating factor 1 gene DOID:9008296 Eye Abnormalities ISO RGD:733293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9753320 12411137 APAF1 apoptotic peptidase activating factor 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9753320|PMID:9753321 12411231 HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1317629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 12411231 HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:0050632 oculocutaneous albinism ISO RGD:1317629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:24033266|PMID:25741868|PMID:28492532 12411231 HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:0060542 Hermansky-Pudlak syndrome 4 ISO RGD:1317629 D RGD:7240710 20180130 OMIM 12411231 HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:0060542 Hermansky-Pudlak syndrome 4 ISO RGD:1317629 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4 PMID:11836498|PMID:12664304|PMID:15108212|PMID:16199547|PMID:20158590|PMID:21833017|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29600982|PMID:30985222|PMID:31898847 12411231 HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:0110271 cataract 23 ISO RGD:1317629 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 12411231 HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:2223 platelet storage pool deficiency ISO RGD:1317630 D RGD:9068941 20220825 MouseDO OMIM:185050 12411231 HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1317629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:12664304|PMID:24033266|PMID:25741868|PMID:26575419|PMID:28492532|PMID:31898847 12411231 HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:5419 schizophrenia susceptibility ISO RGD:1317629 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:multiple: PMID:23563589|REF_RGD_ID:11353873 12411231 HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:630 genetic disease ISO RGD:1317629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11836498|PMID:12664304|PMID:15108212|PMID:28492532 12411231 HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:9001386 Albinism ISO RGD:1317629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Albinism PMID:12664304|PMID:16199547|PMID:25741868|PMID:28492532|PMID:29600982 12411280 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1 gene DOID:10283 prostate cancer ISO RGD:1606814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12411280 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1 gene DOID:630 genetic disease ISO RGD:1606814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411280 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12411288 GZMA granzyme A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348122 D RGD:9068941 20200609 RGD PMID:20047264|REF_RGD_ID:5135520 12411288 GZMA granzyme A gene DOID:630 genetic disease ISO RGD:1348122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411288 GZMA granzyme A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12411288 GZMA granzyme A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12411297 PHACTR4 phosphatase and actin regulator 4 gene DOID:0080600 COVID-19 ISO RGD:1351091 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12411297 PHACTR4 phosphatase and actin regulator 4 gene DOID:630 genetic disease ISO RGD:1351091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411330 PCYOX1L prenylcysteine oxidase 1 like gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604601 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12411330 PCYOX1L prenylcysteine oxidase 1 like gene DOID:630 genetic disease ISO RGD:1604601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411330 PCYOX1L prenylcysteine oxidase 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12411330 PCYOX1L prenylcysteine oxidase 1 like gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604601 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12411339 ZFR zinc finger RNA binding protein gene DOID:1059 intellectual disability ISO RGD:1323583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12411339 ZFR zinc finger RNA binding protein gene DOID:2476 hereditary spastic paraplegia ISO RGD:1323583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12411339 ZFR zinc finger RNA binding protein gene DOID:630 genetic disease ISO RGD:1323583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12411339 ZFR zinc finger RNA binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12411339 ZFR zinc finger RNA binding protein gene DOID:9004547 Thyroid Neoplasms ISO RGD:1323583 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34323000 12411339 ZFR zinc finger RNA binding protein gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1323583 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34323000 12411368 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:0050434 Andersen-Tawil syndrome ISO RGD:1349904 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Andersen Tawil syndrome | ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features PMID:20560207|PMID:21311022|PMID:22203740|PMID:24574546|PMID:25417227|PMID:25741868|PMID:28492532|PMID:30764634|PMID:31521807 12411368 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:0060224 atrial fibrillation ISO RGD:1349904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12411368 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:0060224 atrial fibrillation ISO RGD:1349904 D RGD:9068941 20200609 RGD PMID:11693772|REF_RGD_ID:1581701 12411368 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:0110644 long QT syndrome 1 ISO RGD:1349904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:25741868|PMID:28492532 12411368 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:0110654 long QT syndrome 13 ISO RGD:1349904 D RGD:7240710 20180130 OMIM 12411368 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:0110654 long QT syndrome 13 ISO RGD:1349904 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome 13 PMID:20560207|PMID:24574546|PMID:25417227|PMID:25741868|PMID:26350513|PMID:28492532|PMID:29016797|PMID:29396561|PMID:29467578|PMID:29726953|PMID:30764634|PMID:30847666|PMID:31521807|PMID:34426522 12411368 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1349904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12411368 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1349904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 12411368 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:1349904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 12411368 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:13884 sick sinus syndrome ISO RGD:1349904 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26831068 12411368 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:2843 long QT syndrome ISO RGD:1349904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:17967416|PMID:20560207|PMID:22203740|PMID:22308486|PMID:24420545|PMID:24574546|PMID:24819081|PMID:25741868|PMID:26350513|PMID:28492532|PMID:29467578|PMID:31388123 12411368 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:2843 long QT syndrome ISO RGD:1349904 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:17576681|PMID:17967416|PMID:20560207|PMID:21311022|PMID:22203740|PMID:22308486|PMID:22315453|PMID:22645387|PMID:24420545|PMID:24574546|PMID:24819081|PMID:25347571|PMID:25417227|PMID:25741868|PMID:26350513|PMID:27099398|PMID:27707468|PMID:28032242|PMID:28492532|PMID:28986455|PMID:29016797|PMID:29396561|PMID:29467578|PMID:29726953|PMID:30086531|PMID:30764634|PMID:30847666|PMID:30975432|PMID:31388123|PMID:31521807|PMID:34426522|PMID:9536098 12411368 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:5419 schizophrenia ISO RGD:1349904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12411368 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:630 genetic disease ISO RGD:1349904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12411368 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:657 adenoma ISO RGD:1349904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23913001|PMID:23913004 12411368 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:9000644 Familial Hyperaldosteronism, Type III ISO RGD:1349904 D RGD:7240710 20180130 OMIM 12411368 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:9000644 Familial Hyperaldosteronism, Type III ISO RGD:1349904 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hyperaldosteronism type 3 | ClinVar Annotator: match by term: Familial hyperaldosteronism type III PMID:20560207|PMID:21311022|PMID:22203740|PMID:22252394|PMID:22308486|PMID:22628607|PMID:23829355|PMID:24037882|PMID:24420545|PMID:24506072|PMID:24574546|PMID:24819081|PMID:25057880|PMID:25741868|PMID:26350513|PMID:28447626|PMID:28492532|PMID:29016797|PMID:29396561|PMID:29726953|PMID:30847666|PMID:34426522 12411368 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:9000644 Familial Hyperaldosteronism, Type III ISO RGD:1349904 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hyperaldosteronism type 3 | ClinVar Annotator: match by term: Familial hyperaldosteronism type III PMID:20560207|PMID:21311022|PMID:22203740|PMID:22252394|PMID:22308486|PMID:22628607|PMID:23829355|PMID:24037882|PMID:24420545|PMID:24506072|PMID:24574546|PMID:24819081|PMID:25057880|PMID:25417227|PMID:25741868|PMID:26350513|PMID:28447626|PMID:28492532|PMID:29016797|PMID:29396561|PMID:29726953|PMID:30764634|PMID:30847666|PMID:31521807|PMID:34426522 12411368 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:9003163 Heart Block ISO RGD:1349904 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26831068 12411368 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12411368 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:9004228 Familial Hyperaldosteronism ISO RGD:1349904 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hyperaldosteronism PMID:25741868|PMID:28492532 12411368 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1349904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:25741868|PMID:28492532 12411368 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:9007661 Dwarfism ISO RGD:1349904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12411376 FBXL16 F-box and leucine rich repeat protein 16 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1319294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12411376 FBXL16 F-box and leucine rich repeat protein 16 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1319294 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12411376 FBXL16 F-box and leucine rich repeat protein 16 gene DOID:1826 epilepsy ISO RGD:1319294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12411376 FBXL16 F-box and leucine rich repeat protein 16 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12411376 FBXL16 F-box and leucine rich repeat protein 16 gene DOID:630 genetic disease ISO RGD:1319294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411389 GNAT2 G protein subunit alpha transducin 2 gene DOID:0050795 cone dystrophy ISO RGD:1319893 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25741868|PMID:28492532|PMID:31058429 12411389 GNAT2 G protein subunit alpha transducin 2 gene DOID:0110010 achromatopsia 4 ISO RGD:1319893 D RGD:7240710 20180130 OMIM 12411389 GNAT2 G protein subunit alpha transducin 2 gene DOID:0110010 achromatopsia 4 ISO RGD:1319893 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Achromatopsia 4 PMID:12077706|PMID:12205108|PMID:15557429|PMID:18643908|PMID:21107338|PMID:25741868|PMID:27208204|PMID:28492532|PMID:31058429|PMID:31144483 12411389 GNAT2 G protein subunit alpha transducin 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1319893 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12411389 GNAT2 G protein subunit alpha transducin 2 gene DOID:12849 autistic disorder ISO RGD:1319893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12411389 GNAT2 G protein subunit alpha transducin 2 gene DOID:13399 color blindness ISO RGD:1319893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12077706 12411389 GNAT2 G protein subunit alpha transducin 2 gene DOID:13399 color blindness ISO RGD:1319893 D RGD:9068941 20200609 RGD PMID:12077706|REF_RGD_ID:1599034 12411389 GNAT2 G protein subunit alpha transducin 2 gene DOID:13911 achromatopsia ISO RGD:1319893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:25741868 12411389 GNAT2 G protein subunit alpha transducin 2 gene DOID:630 genetic disease ISO RGD:1319893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12411389 GNAT2 G protein subunit alpha transducin 2 gene DOID:8501 fundus dystrophy ISO RGD:1319893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 12411389 GNAT2 G protein subunit alpha transducin 2 gene DOID:9008296 Eye Abnormalities ISO RGD:1319893 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643 12411425 ZMIZ2 zinc finger MIZ-type containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12411425 ZMIZ2 zinc finger MIZ-type containing 2 gene DOID:630 genetic disease ISO RGD:1605930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411425 ZMIZ2 zinc finger MIZ-type containing 2 gene DOID:9006030 Infant Death ISO RGD:1605930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Death in infancy 12411426 RABL3 RAB, member of RAS oncogene family like 3 gene DOID:1793 pancreatic cancer ISO RGD:1315050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 5 PMID:31406347 12411426 RABL3 RAB, member of RAS oncogene family like 3 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1315050 D RGD:7240710 20191211 OMIM 12411426 RABL3 RAB, member of RAS oncogene family like 3 gene DOID:630 genetic disease ISO RGD:1315050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411426 RABL3 RAB, member of RAS oncogene family like 3 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1315050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12411426 RABL3 RAB, member of RAS oncogene family like 3 gene DOID:9270 alkaptonuria ISO RGD:1315050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12411439 BPIFB6 BPI fold containing family B member 6 gene DOID:630 genetic disease ISO RGD:1323145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411457 GSDME gasdermin E gene DOID:0050563 nonsyndromic deafness ISO RGD:1349553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:15173223|PMID:17427029|PMID:24033266|PMID:28492532|PMID:30311386|PMID:7427029 12411457 GSDME gasdermin E gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1349553 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:25741868 12411457 GSDME gasdermin E gene DOID:0080773 delta beta-thalassemia ISO RGD:1349553 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin PMID:25741868 12411457 GSDME gasdermin E gene DOID:0110575 autosomal dominant nonsyndromic deafness 5 ISO RGD:1349553 D RGD:7240710 20180130 OMIM 12411457 GSDME gasdermin E gene DOID:0110575 autosomal dominant nonsyndromic deafness 5 ISO RGD:1349553 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 5 PMID:14676472|PMID:15173223|PMID:17576681|PMID:17868390|PMID:24033266|PMID:24164807|PMID:25741868|PMID:28492532|PMID:29266521|PMID:29849037|PMID:30311386|PMID:34906502|PMID:9536098|PMID:9771715 12411457 GSDME gasdermin E gene DOID:10003 sensorineural hearing loss ISO RGD:1349553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 12411457 GSDME gasdermin E gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12411457 GSDME gasdermin E gene DOID:630 genetic disease ISO RGD:1349553 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12411457 GSDME gasdermin E gene DOID:7148 rheumatoid arthritis ISO RGD:1349553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 12411457 GSDME gasdermin E gene DOID:9004538 Hearing Loss ISO RGD:1349553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed PMID:28492532|PMID:30311386 12411501 PIGW phosphatidylinositol glycan anchor biosynthesis class W gene DOID:0060041 autism spectrum disorder ISO RGD:1352879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 12411501 PIGW phosphatidylinositol glycan anchor biosynthesis class W gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1352879 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 12411501 PIGW phosphatidylinositol glycan anchor biosynthesis class W gene DOID:12849 autistic disorder ISO RGD:1352879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12411501 PIGW phosphatidylinositol glycan anchor biosynthesis class W gene DOID:5419 schizophrenia ISO RGD:1352879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12411501 PIGW phosphatidylinositol glycan anchor biosynthesis class W gene DOID:630 genetic disease ISO RGD:1352879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30679815 12411501 PIGW phosphatidylinositol glycan anchor biosynthesis class W gene DOID:674 cleft palate ISO RGD:1352879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:25741868|PMID:28492532 12411501 PIGW phosphatidylinositol glycan anchor biosynthesis class W gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12411501 PIGW phosphatidylinositol glycan anchor biosynthesis class W gene DOID:9005046 Hyperphosphatasia with Impaired Intellectual Development Syndrome ISO RGD:1352879 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12411501 PIGW phosphatidylinositol glycan anchor biosynthesis class W gene DOID:9006834 Glycosylphosphatidylinositol Deficiency ISO RGD:1352879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 PMID:25741868 12411501 PIGW phosphatidylinositol glycan anchor biosynthesis class W gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1352879 D RGD:7240710 20180130 OMIM 12411501 PIGW phosphatidylinositol glycan anchor biosynthesis class W gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1352879 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24367057|PMID:24905847|PMID:25741868|PMID:26123568|PMID:27626616|PMID:28492532|PMID:30679815|PMID:30813920|PMID:31604004|PMID:32198969|PMID:32466763|PMID:9398836 12411501 PIGW phosphatidylinositol glycan anchor biosynthesis class W gene DOID:9008086 Developmental Disabilities ISO RGD:1352879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 12411525 PTPRCAP protein tyrosine phosphatase receptor type C associated protein gene DOID:1059 intellectual disability ISO RGD:1349193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12411525 PTPRCAP protein tyrosine phosphatase receptor type C associated protein gene DOID:630 genetic disease ISO RGD:1349193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411525 PTPRCAP protein tyrosine phosphatase receptor type C associated protein gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1349193 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12411525 PTPRCAP protein tyrosine phosphatase receptor type C associated protein gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1349193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12411533 ZNF581 zinc finger protein 581 gene DOID:630 genetic disease ISO RGD:1343314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411562 GAL galanin and GMAP prepropeptide gene DOID:0060754 familial temporal lobe epilepsy 8 ISO RGD:737194 D RGD:7240710 20180130 OMIM 12411562 GAL galanin and GMAP prepropeptide gene DOID:0060754 familial temporal lobe epilepsy 8 ISO RGD:737194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 PMID:17576681|PMID:25691535|PMID:25741868|PMID:28492532|PMID:9536098 12411562 GAL galanin and GMAP prepropeptide gene DOID:1059 intellectual disability ISO RGD:737194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12411562 GAL galanin and GMAP prepropeptide gene DOID:10763 hypertension ISO RGD:61954 D RGD:9068941 20200609 RGD mRNA:decreased expression:paraventricular hypothalamic nucleus, solitary tract nucleus PMID:15275958|REF_RGD_ID:1624333 12411562 GAL galanin and GMAP prepropeptide gene DOID:10763 hypertension ISO RGD:737194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10818254 12411562 GAL galanin and GMAP prepropeptide gene DOID:1188 mononeuropathy ISO RGD:61954 D RGD:9068941 20200609 RGD PMID:17383023|REF_RGD_ID:1624339 12411562 GAL galanin and GMAP prepropeptide gene DOID:1470 major depressive disorder ISO RGD:737194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27940914 12411562 GAL galanin and GMAP prepropeptide gene DOID:1826 epilepsy ISO RGD:737194 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12411562 GAL galanin and GMAP prepropeptide gene DOID:2316 brain ischemia ISO RGD:61954 D RGD:9068941 20200609 RGD PMID:16458372|REF_RGD_ID:1624341 12411562 GAL galanin and GMAP prepropeptide gene DOID:630 genetic disease ISO RGD:737194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12411562 GAL galanin and GMAP prepropeptide gene DOID:9002211 Hyperalgesia ISO RGD:737194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12787826 12411562 GAL galanin and GMAP prepropeptide gene DOID:9002554 Tachycardia ISO RGD:737194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10818254 12411562 GAL galanin and GMAP prepropeptide gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:737194 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12411562 GAL galanin and GMAP prepropeptide gene DOID:9005372 Inflammation ISO RGD:737194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17999197 12411562 GAL galanin and GMAP prepropeptide gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61954 D RGD:9068941 20200609 RGD protein:decreased expression:pancreatic islet PMID:11489087|REF_RGD_ID:2313740 12411562 GAL galanin and GMAP prepropeptide gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62247 D RGD:9068941 20200609 RGD protein:decreased expression:pancreatic islet PMID:7505518|REF_RGD_ID:2313742 12411562 GAL galanin and GMAP prepropeptide gene DOID:9005968 Neuralgia ISO RGD:737194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18400411 12411562 GAL galanin and GMAP prepropeptide gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:737194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12411562 GAL galanin and GMAP prepropeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:737194 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:15735230|REF_RGD_ID:2313738 12411562 GAL galanin and GMAP prepropeptide gene DOID:9744 type 1 diabetes mellitus ISO RGD:61954 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:celiac ganglion PMID:16487586|REF_RGD_ID:1624331 12411562 GAL galanin and GMAP prepropeptide gene DOID:9744 type 1 diabetes mellitus ISO RGD:737194 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16060906|REF_RGD_ID:2313736 12411562 GAL galanin and GMAP prepropeptide gene DOID:9970 obesity ISO RGD:737194 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11220530|REF_RGD_ID:1624334 12411562 GAL galanin and GMAP prepropeptide gene DOID:9970 obesity no_association ISO RGD:737194 D RGD:9068941 20200609 RGD PMID:15930442|REF_RGD_ID:1625748 12411573 TTLL8 tubulin tyrosine ligase like 8 gene DOID:0060041 autism spectrum disorder ISO RGD:2290198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12411573 TTLL8 tubulin tyrosine ligase like 8 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:2290198 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12411573 TTLL8 tubulin tyrosine ligase like 8 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:2290198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12411573 TTLL8 tubulin tyrosine ligase like 8 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:2290198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12411573 TTLL8 tubulin tyrosine ligase like 8 gene DOID:10581 metachromatic leukodystrophy ISO RGD:2290198 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12411573 TTLL8 tubulin tyrosine ligase like 8 gene DOID:1059 intellectual disability ISO RGD:2290198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12411603 TAF11 TATA-box binding protein associated factor 11 gene DOID:0050553 JMP syndrome ISO RGD:1313766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12411603 TAF11 TATA-box binding protein associated factor 11 gene DOID:630 genetic disease ISO RGD:1313766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411619 ODF1 outer dense fiber of sperm tails 1 gene DOID:0111590 Cohen syndrome ISO RGD:733828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12411619 ODF1 outer dense fiber of sperm tails 1 gene DOID:630 genetic disease ISO RGD:733828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411625 UTP3 UTP3 small subunit processome component gene DOID:630 genetic disease ISO RGD:1603977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411625 UTP3 UTP3 small subunit processome component gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1603977 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12411630 WDR43 WD repeat domain 43 gene DOID:630 genetic disease ISO RGD:1344839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411630 WDR43 WD repeat domain 43 gene DOID:9009095 Neuroblastoma 3 ISO RGD:1344839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 PMID:28492532 12411652 CD151 CD151 molecule gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12411652 CD151 CD151 molecule gene DOID:0080773 delta beta-thalassemia ISO RGD:733300 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12411652 CD151 CD151 molecule gene DOID:0111969 immunodeficiency 39 ISO RGD:733300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12411652 CD151 CD151 molecule gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12411652 CD151 CD151 molecule gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:733300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12411652 CD151 CD151 molecule gene DOID:630 genetic disease ISO RGD:733300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12411652 CD151 CD151 molecule gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:733300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 12411652 CD151 CD151 molecule gene DOID:9004850 Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness ISO RGD:733300 D RGD:7240710 20180130 OMIM 12411652 CD151 CD151 molecule gene DOID:9004850 Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness ISO RGD:733300 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 7, WITH NEPHROPATHY AND DEAFNESS | ClinVar Annotator: match by term: Nephropathy with pretibial epidermolysis bullosa and deafness PMID:15265795|PMID:25741868|PMID:25741871|PMID:28492532 12411664 TOP1 DNA topoisomerase I gene DOID:0060041 autism spectrum disorder ISO RGD:733198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12411664 TOP1 DNA topoisomerase I gene DOID:14566 disease of cellular proliferation ISO RGD:733198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11598410 12411664 TOP1 DNA topoisomerase I gene DOID:2234 focal epilepsy ISO RGD:733198 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12411664 TOP1 DNA topoisomerase I gene DOID:630 genetic disease ISO RGD:733198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411664 TOP1 DNA topoisomerase I gene DOID:9000918 Disease Progression ISO RGD:733198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30132517 12411664 TOP1 DNA topoisomerase I gene DOID:9002801 Recurrence ISO RGD:733198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30132517 12411664 TOP1 DNA topoisomerase I gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:733198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19931604 12411664 TOP1 DNA topoisomerase I gene DOID:9007188 Liver Neoplasms ISO RGD:733198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30132517 12411689 LOC480822 kallikrein-15 gene DOID:630 genetic disease ISO RGD:1322213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411697 MORC4 MORC family CW-type zinc finger 4 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1345473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 12411697 MORC4 MORC family CW-type zinc finger 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12411697 MORC4 MORC family CW-type zinc finger 4 gene DOID:12849 autistic disorder ISO RGD:1345473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12411697 MORC4 MORC family CW-type zinc finger 4 gene DOID:630 genetic disease ISO RGD:1345473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411722 UXS1 UDP-glucuronate decarboxylase 1 gene DOID:630 genetic disease ISO RGD:735996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411722 UXS1 UDP-glucuronate decarboxylase 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 12411739 GTPBP2 GTP binding protein 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1314943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12411739 GTPBP2 GTP binding protein 2 gene DOID:13580 cholestasis ISO RGD:1314943 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12411739 GTPBP2 GTP binding protein 2 gene DOID:630 genetic disease ISO RGD:1314943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12411739 GTPBP2 GTP binding protein 2 gene DOID:9005019 JABERI-ELAHI SYNDROME ISO RGD:1314943 D RGD:7240710 20190315 OMIM 12411739 GTPBP2 GTP binding protein 2 gene DOID:9005019 JABERI-ELAHI SYNDROME ISO RGD:1314943 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Jaberi-Elahi syndrome PMID:25741868|PMID:29449720|PMID:30790272|PMID:32860008 12411739 GTPBP2 GTP binding protein 2 gene DOID:905 Zellweger syndrome ISO RGD:1314943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12411755 BEND3 BEN domain containing 3 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1347685 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 12411755 BEND3 BEN domain containing 3 gene DOID:630 genetic disease ISO RGD:1347685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411762 IDNK IDNK gluconokinase gene DOID:630 genetic disease ISO RGD:1347065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411784 SPTLC1 serine palmitoyltransferase long chain base subunit 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1315336 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 12411784 SPTLC1 serine palmitoyltransferase long chain base subunit 1 gene DOID:0070152 hereditary sensory and autonomic neuropathy type 1A ISO RGD:1315336 D RGD:7240710 20180130 OMIM 12411784 SPTLC1 serine palmitoyltransferase long chain base subunit 1 gene DOID:0070152 hereditary sensory and autonomic neuropathy type 1A ISO RGD:1315336 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1A | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type IA, severe PMID:11242106|PMID:11242114|PMID:11479835|PMID:12417569|PMID:13646503|PMID:14152213|PMID:14990347|PMID:15037712|PMID:15546589|PMID:16210380|PMID:16364956|PMID:17576681|PMID:18018475|PMID:18077166|PMID:19132419|PMID:19651702|PMID:19923297|PMID:20097765|PMID:20301564|PMID:20504773|PMID:21618344|PMID:22302274|PMID:23454272|PMID:24247255|PMID:24673574|PMID:25042817|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26681808|PMID:28492532|PMID:30420926|PMID:31509666|PMID:32399692|PMID:32581362|PMID:34059824|PMID:34459874|PMID:34986032|PMID:8673084|PMID:9536098 12411784 SPTLC1 serine palmitoyltransferase long chain base subunit 1 gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1315336 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:11242106|PMID:11242114|PMID:11479835|PMID:12417569|PMID:13646503|PMID:14152213|PMID:14990347|PMID:15037712|PMID:15546589|PMID:16199547|PMID:16210380|PMID:16364956|PMID:17576681|PMID:18018475|PMID:19132419|PMID:19555464|PMID:19651702|PMID:19923297|PMID:20097765|PMID:20301564|PMID:20504773|PMID:21618344|PMID:22302274|PMID:23454272|PMID:24088041|PMID:24247255|PMID:24604904|PMID:24673574|PMID:25042817|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26681808|PMID:28492532|PMID:30373780|PMID:30420926|PMID:31509666|PMID:31742231|PMID:32376792|PMID:32399692|PMID:32581362|PMID:34103343|PMID:34459874|PMID:34986032|PMID:8673084|PMID:9536098 12411784 SPTLC1 serine palmitoyltransferase long chain base subunit 1 gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1315336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 12411784 SPTLC1 serine palmitoyltransferase long chain base subunit 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1315336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11242106|PMID:11242114|PMID:11479835|PMID:12417569|PMID:13646503|PMID:14152213|PMID:15037712|PMID:15546589|PMID:16210380|PMID:16364956|PMID:18018475|PMID:19132419|PMID:19555464|PMID:19651702|PMID:19923297|PMID:20097765|PMID:20504773|PMID:21618344|PMID:22302274|PMID:23454272|PMID:24247255|PMID:24604904|PMID:24673574|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26681808|PMID:28166811|PMID:28492532|PMID:31509666|PMID:32376792|PMID:32581362 12411784 SPTLC1 serine palmitoyltransferase long chain base subunit 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1315336 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11242106|PMID:11242114|PMID:11479835|PMID:12417569|PMID:13646503|PMID:14152213|PMID:14990347|PMID:15037712|PMID:15546589|PMID:16210380|PMID:16364956|PMID:18018475|PMID:19132419|PMID:19555464|PMID:19651702|PMID:19923297|PMID:20097765|PMID:20301564|PMID:20504773|PMID:21618344|PMID:22302274|PMID:23454272|PMID:24247255|PMID:24604904|PMID:24673574|PMID:25042817|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26681808|PMID:28492532|PMID:30420926|PMID:31509666|PMID:32376792|PMID:32399692|PMID:32581362|PMID:34103343|PMID:34459874|PMID:34986032|PMID:8673084 12411784 SPTLC1 serine palmitoyltransferase long chain base subunit 1 gene DOID:10907 microcephaly ISO RGD:1315336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12411784 SPTLC1 serine palmitoyltransferase long chain base subunit 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1315336 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532|PMID:34059824 12411784 SPTLC1 serine palmitoyltransferase long chain base subunit 1 gene DOID:630 genetic disease ISO RGD:1315336 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11242106|PMID:11242114|PMID:12417569|PMID:13646503|PMID:15037712|PMID:15546589|PMID:19132419|PMID:20097765|PMID:20301564|PMID:24673574|PMID:25042817|PMID:25584079|PMID:25741868|PMID:26681808|PMID:28492532|PMID:30420926|PMID:31509666|PMID:32376792|PMID:32399692|PMID:34103343|PMID:34986032|PMID:8673084 12411784 SPTLC1 serine palmitoyltransferase long chain base subunit 1 gene DOID:9005364 Amyotrophic Lateral Sclerosis Type 27 ISO RGD:1315336 D RGD:7240710 20230505 OMIM 12411784 SPTLC1 serine palmitoyltransferase long chain base subunit 1 gene DOID:9005364 Amyotrophic Lateral Sclerosis Type 27 ISO RGD:1315336 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 27, juvenile PMID:19651702|PMID:21618344|PMID:23454272|PMID:24247255|PMID:25741868|PMID:26681808|PMID:28492532|PMID:34059824|PMID:34459874|PMID:36204986 12411784 SPTLC1 serine palmitoyltransferase long chain base subunit 1 gene DOID:9277 primary cerebellar degeneration ISO RGD:1315336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorimotor neuropathy PMID:11242106|PMID:11242114|PMID:11479835|PMID:14152213|PMID:14990347|PMID:15546589|PMID:16210380|PMID:16364956|PMID:18018475|PMID:19132419|PMID:19923297|PMID:20301564|PMID:20504773|PMID:22302274|PMID:25741868|PMID:26681808|PMID:28492532|PMID:32581362 12411806 CLIP3 CAP-Gly domain containing linker protein 3 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1603664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12411806 CLIP3 CAP-Gly domain containing linker protein 3 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12411806 CLIP3 CAP-Gly domain containing linker protein 3 gene DOID:630 genetic disease ISO RGD:1603664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411824 NEK1 NIMA related kinase 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1319690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:23757202|PMID:28492532|PMID:29068549 12411824 NEK1 NIMA related kinase 1 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1319690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 PMID:25741868 12411824 NEK1 NIMA related kinase 1 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1319690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 PMID:21211617|PMID:25741868 12411824 NEK1 NIMA related kinase 1 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1319690 D RGD:7240710 20180530 OMIM 12411824 NEK1 NIMA related kinase 1 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1319690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:16199547|PMID:17576681|PMID:21211617|PMID:22499340|PMID:23757202|PMID:24033266|PMID:25492405|PMID:25741868|PMID:26945885|PMID:27455347|PMID:27530628|PMID:28089114|PMID:28123176|PMID:28492532|PMID:28710492|PMID:28935222|PMID:29068549|PMID:29431110|PMID:30093141|PMID:3014367|PMID:30408610|PMID:32462798|PMID:33445179|PMID:9536098 12411824 NEK1 NIMA related kinase 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1319691 D RGD:9068941 20220825 MouseDO OMIM:263200 12411824 NEK1 NIMA related kinase 1 gene DOID:231 motor neuron disease ISO RGD:1319690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:16199547|PMID:22499340|PMID:25741868|PMID:27455347|PMID:28089114|PMID:28492532|PMID:29068549|PMID:29431110 12411824 NEK1 NIMA related kinase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1319690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 12411824 NEK1 NIMA related kinase 1 gene DOID:614 lymphopenia ISO RGD:1319690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphopenia PMID:25741868|PMID:28089114|PMID:28492532 12411824 NEK1 NIMA related kinase 1 gene DOID:630 genetic disease ISO RGD:1319690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12411824 NEK1 NIMA related kinase 1 gene DOID:65 connective tissue disease ISO RGD:1319690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:16199547|PMID:22499340|PMID:25741868|PMID:28089114|PMID:28492532|PMID:29068549 12411824 NEK1 NIMA related kinase 1 gene DOID:9007073 Cough ISO RGD:1319690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cough PMID:25741868|PMID:28089114|PMID:28492532 12411824 NEK1 NIMA related kinase 1 gene DOID:9009135 Amyotrophic Lateral Sclerosis Type 24 ISO RGD:1319690 D RGD:7240710 20230505 OMIM 12411824 NEK1 NIMA related kinase 1 gene DOID:9009135 Amyotrophic Lateral Sclerosis Type 24 ISO RGD:1319690 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 24 PMID:21211617|PMID:22499340|PMID:24033266|PMID:25741868|PMID:26945885|PMID:27455347|PMID:28089114|PMID:28123176|PMID:28492532|PMID:28935222|PMID:29068549|PMID:30408610 12411824 NEK1 NIMA related kinase 1 gene DOID:9249 Beemer-Langer syndrome ISO RGD:1319690 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome PMID:25741868|PMID:29068549 12411867 BORCS5 BLOC-1 related complex subunit 5 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1316927 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs3803098) A>G (human) PMID:27354594|REF_RGD_ID:152177496 12411867 BORCS5 BLOC-1 related complex subunit 5 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1316927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12411867 BORCS5 BLOC-1 related complex subunit 5 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1316927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12411867 BORCS5 BLOC-1 related complex subunit 5 gene DOID:630 genetic disease ISO RGD:1316927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411867 BORCS5 BLOC-1 related complex subunit 5 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1316927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of 12411896 EIF3J eukaryotic translation initiation factor 3 subunit J gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1317118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 12411896 EIF3J eukaryotic translation initiation factor 3 subunit J gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic Paraplegia, Recessive 12411896 EIF3J eukaryotic translation initiation factor 3 subunit J gene DOID:2717 Bloom syndrome ISO RGD:1317118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12411896 EIF3J eukaryotic translation initiation factor 3 subunit J gene DOID:630 genetic disease ISO RGD:1317118 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411896 EIF3J eukaryotic translation initiation factor 3 subunit J gene DOID:9256 colorectal cancer ISO RGD:1317118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12411908 LINGO1 leucine rich repeat and Ig domain containing 1 gene DOID:0081225 autosomal recessive intellectual developmental disorder 64 ISO RGD:1318574 D RGD:7240710 20190315 OMIM 12411908 LINGO1 leucine rich repeat and Ig domain containing 1 gene DOID:0081225 autosomal recessive intellectual developmental disorder 64 ISO RGD:1318574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 64 | ClinVar Annotator: match by term: Mental retardation, autosomal recessive 64 PMID:25741868|PMID:28837161 12411908 LINGO1 leucine rich repeat and Ig domain containing 1 gene DOID:1686 glaucoma treatment ISO RGD:1318574 D RGD:9068941 20200609 RGD PMID:19422885|REF_RGD_ID:8655601 12411908 LINGO1 leucine rich repeat and Ig domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1318574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12411908 LINGO1 leucine rich repeat and Ig domain containing 1 gene DOID:4990 essential tremor ISO RGD:1318574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19182806 12411908 LINGO1 leucine rich repeat and Ig domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1318574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12411908 LINGO1 leucine rich repeat and Ig domain containing 1 gene DOID:630 genetic disease ISO RGD:1318574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411908 LINGO1 leucine rich repeat and Ig domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1318574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12411919 GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:0060041 autism spectrum disorder ISO RGD:733632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 12411919 GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:733632 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 12411919 GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:11983 Prader-Willi syndrome ISO RGD:733632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 12411919 GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:12849 autistic disorder ISO RGD:733632 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 12411919 GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:1932 Angelman syndrome ISO RGD:733632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:25741868|PMID:26633545 12411919 GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:5419 schizophrenia ISO RGD:733632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12411919 GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:630 genetic disease ISO RGD:733632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411919 GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:9000998 Brain Injuries ISO RGD:733632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 12411919 GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12411919 GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:9004864 Isodicentric Chromosome 15 Syndrome ISO RGD:733632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23663378 12411919 GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:733632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:11198279|PMID:26068938|PMID:26950270|PMID:28053010|PMID:28492532 12411937 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1313025 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 12411937 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:0050768 mitochondrial complex V (ATP synthase) deficiency nuclear type 1 ISO RGD:1313025 D RGD:7240710 20180130 OMIM 12411937 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:0050768 mitochondrial complex V (ATP synthase) deficiency nuclear type 1 ISO RGD:1313025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 PMID:14757859|PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436 12411937 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:0050777 Joubert syndrome ISO RGD:1313025 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12411937 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1313025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12411937 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1313025 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12411937 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:10907 microcephaly ISO RGD:1313025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12411937 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:12849 autistic disorder ISO RGD:1313025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12411937 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:630 genetic disease ISO RGD:1313025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12411949 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:0060843 hereditary neuropathy with liability to pressure palsies ISO RGD:736857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary liability to pressure palsies PMID:25741868|PMID:26467025|PMID:28492532 12411949 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:736857 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12411949 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:11162 respiratory failure ISO RGD:736857 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19822448 12411949 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:14452 hypokalemic periodic paralysis ISO RGD:736857 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: HypoPP | ClinVar Annotator: match by term: Hypokalemic periodic paralysis PMID:10590402|PMID:11260227|PMID:12411788|PMID:15201141|PMID:16163667|PMID:17576681|PMID:19825159|PMID:1982519|PMID:20213496|PMID:20431982|PMID:22547813|PMID:22992668|PMID:23663834|PMID:24033266|PMID:24195946|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28326467|PMID:28492532|PMID:30236257|PMID:9199552|PMID:9536098 12411949 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:1540 parathyroid carcinoma ISO RGD:736857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12411949 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:630 genetic disease ISO RGD:736857 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24195946|PMID:25132214|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32054689 12411949 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:767 muscular atrophy ISO RGD:736857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular atrophy PMID:25741868|PMID:31227654 12411949 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:8545 malignant hyperthermia ISO RGD:736857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:11260227|PMID:12411788|PMID:15201141|PMID:16163667|PMID:17576681|PMID:19825159|PMID:1982519|PMID:20861472|PMID:22547813|PMID:22992668|PMID:23662824|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24784157|PMID:25132214|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27147545|PMID:28011884|PMID:28166811|PMID:28326467|PMID:28492532|PMID:29193480|PMID:29212769|PMID:9199552|PMID:9536098 12411949 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:8545 malignant hyperthermia ISO RGD:736857 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:11260227|PMID:12411788|PMID:15201141|PMID:16163667|PMID:17576681|PMID:19825159|PMID:20861472|PMID:22547813|PMID:22992668|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24784157|PMID:25132214|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27147545|PMID:28011884|PMID:28166811|PMID:28326467|PMID:28492532|PMID:29193480|PMID:29212769|PMID:9199552|PMID:9536098 12411949 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:8545 malignant hyperthermia ISO RGD:736857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:11260227|PMID:12411788|PMID:15201141|PMID:16163667|PMID:17576681|PMID:19825159|PMID:1982519|PMID:20213496|PMID:20861472|PMID:22547813|PMID:22992668|PMID:23663834|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24784157|PMID:25132214|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27147545|PMID:28011884|PMID:28326467|PMID:28492532|PMID:29193480|PMID:29212769|PMID:30236257|PMID:9199552|PMID:9536098 12411949 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:8545 malignant hyperthermia susceptibility ISO RGD:736857 D RGD:7240710 20230517 OMIM 12411949 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:9000884 Rhabdomyolysis ISO RGD:736857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:28779239 12411949 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736857 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:10074484|PMID:10523403|PMID:10590402|PMID:10639629|PMID:11034874|PMID:11260227|PMID:11328898|PMID:11353725|PMID:11555352|PMID:11808349|PMID:11940049|PMID:12411788|PMID:15098604|PMID:15201141|PMID:15711422|PMID:15716625|PMID:15726306|PMID:16163667|PMID:16199547|PMID:17418573|PMID:17576681|PMID:17587224|PMID:18162704|PMID:18229654|PMID:18325191|PMID:18835861|PMID:19118277|PMID:19225109|PMID:19779499|PMID:19822448|PMID:19825159|PMID:1982519|PMID:20213496|PMID:20301512|PMID:20431982|PMID:20861472|PMID:21841462|PMID:21855088|PMID:22547813|PMID:22901280|PMID:22992668|PMID:23187123|PMID:23663834|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24240197|PMID:24784157|PMID:25132214|PMID:25213595|PMID:25430699|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26247046|PMID:26252573|PMID:26332594|PMID:26433613|PMID:26467025|PMID:26633545|PMID:27147545|PMID:28008999|PMID:28011884|PMID:28012042|PMID:28259615|PMID:28326467|PMID:28492532|PMID:28686619|PMID:28857175|PMID:28972032|PMID:29048924|PMID:29193480|PMID:29212769|PMID:29572832|PMID:29792937|PMID:30236257|PMID:30325262|PMID:3037387|PMID:31068157|PMID:31227654|PMID:31380823|PMID:31447099|PMID:31567646|PMID:32054689|PMID:33005891|PMID:33060286|PMID:33667896|PMID:34008892|PMID:34440373|PMID:34463712|PMID:7650604|PMID:7847370|PMID:7897626|PMID:7987325|PMID:8004673|PMID:8605978|PMID:9066893|PMID:9132138|PMID:9199552|PMID:9512357|PMID:9536098|PMID:9852570 12411949 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 susceptibility ISO RGD:736857 D RGD:7240710 20230517 OMIM 12411949 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:9005248 CONGENITAL MYOPATHY 18 ISO RGD:736857 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, due to dihydropyridine receptor defect PMID:25741868|PMID:26247046|PMID:28012042|PMID:28492532|PMID:31227654|PMID:33060286 12411949 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:9005248 CONGENITAL MYOPATHY 18 susceptibility ISO RGD:736857 D RGD:7240710 20230517 OMIM 12411949 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:9006927 Thyrotoxic Periodic Paralysis ISO RGD:736857 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thyrotoxic periodic paralysis, susceptibility to, 1 PMID:15001631|PMID:25741868|PMID:28492532 12411949 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:9006927 Thyrotoxic Periodic Paralysis susceptibility ISO RGD:736857 D RGD:7240710 20230517 OMIM 12411949 CACNA1S calcium voltage-gated channel subunit alpha1 S gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:1059 intellectual disability ISO RGD:1344886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:10652 Alzheimer's disease ISO RGD:1344886 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (human) PMID:15337312|REF_RGD_ID:2317734 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:11054 urinary bladder cancer ISO RGD:1344886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:28492532 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:1344886 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.2501A>G rs2155209 (human) PMID:18638378|REF_RGD_ID:2317733 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:12704 ataxia telangiectasia ISO RGD:1344886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:1380 endometrial cancer ISO RGD:1344886 D RGD:9068941 20200609 RGD DNA:deletions:intron:IVS4_delT (human) PMID:15048091|REF_RGD_ID:2317737 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:1993 rectum cancer susceptibility ISO RGD:1344886 D RGD:9068941 20220303 RGD DNA:SNP:3'utr: (rs2155209) (human) PMID:26735576|REF_RGD_ID:151361212 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:219 colon cancer susceptibility ISO RGD:1344886 D RGD:9068941 20220303 RGD DNA:SNP:3'utr: (rs2155209) (human) PMID:26735576|REF_RGD_ID:151361212 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:2394 ovarian cancer ISO RGD:1344886 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:3069 malignant astrocytoma severity ISO RGD:1344886 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain tumor (human) PMID:17034947|REF_RGD_ID:2317736 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:3459 breast carcinoma ISO RGD:1344886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:23080121|PMID:23912341|PMID:28492532 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:3883 Lynch syndrome ISO RGD:1344886 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:3910 lung adenocarcinoma ISO RGD:735478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:5426 primary ovarian insufficiency ISO RGD:1344886 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:28492532|PMID:30924587 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:543 dystonia ISO RGD:1344886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868|PMID:26467025|PMID:26878173|PMID:26898890|PMID:27878467|PMID:28492532|PMID:31159747 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:5517 stomach carcinoma ISO RGD:1344886 D RGD:9068941 20200609 RGD DNA:deletions:intron:IVS4_delT (human) PMID:15319296|REF_RGD_ID:2317738 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:11196167|PMID:23912341|PMID:24093751|PMID:24894818|PMID:25741868|PMID:26467025|PMID:26898890|PMID:28492532|PMID:32566746|PMID:9845372 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344886 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11196167|PMID:19383352|PMID:20052722|PMID:20805886|PMID:23912341|PMID:24033266|PMID:24093751|PMID:24894818|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26787654|PMID:26898890|PMID:27621404|PMID:28051113|PMID:28492532|PMID:29922827|PMID:32427313|PMID:32566746|PMID:33134171|PMID:33479248|PMID:9845372 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344886 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11196167|PMID:19383352|PMID:20052722|PMID:20805886|PMID:23080121|PMID:23912341|PMID:24033266|PMID:24093751|PMID:24894818|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26787654|PMID:26898890|PMID:27621404|PMID:28051113|PMID:28492532|PMID:29922827|PMID:32427313|PMID:32566746|PMID:33134171|PMID:33479248|PMID:9845372 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344886 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11196167|PMID:19383352|PMID:20052722|PMID:20805886|PMID:23080121|PMID:23912341|PMID:24033266|PMID:24093751|PMID:24894818|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26787654|PMID:26898890|PMID:27621404|PMID:28051113|PMID:28492532|PMID:29922827|PMID:32427313|PMID:32566746|PMID:33134171|PMID:33471991|PMID:33479248|PMID:9845372 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344886 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11196167|PMID:19383352|PMID:20052722|PMID:20805886|PMID:23080121|PMID:23912341|PMID:24033266|PMID:24093751|PMID:24894818|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26787654|PMID:26898890|PMID:27621404|PMID:28051113|PMID:28492532|PMID:29922827|PMID:32039725|PMID:32427313|PMID:32566746|PMID:33134171|PMID:33471991|PMID:33479248|PMID:9845372 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11196167|PMID:17576681|PMID:19383352|PMID:20052722|PMID:20805886|PMID:23080121|PMID:23912341|PMID:24033266|PMID:24093751|PMID:24763289|PMID:24894818|PMID:25503501|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26787654|PMID:26898890|PMID:27153395|PMID:27621404|PMID:28051113|PMID:28492532|PMID:28559769|PMID:29478780|PMID:29922827|PMID:32039725|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32959997|PMID:33134171|PMID:33471991|PMID:33479248|PMID:36091175|PMID:9536098|PMID:9845372 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:630 genetic disease ISO RGD:1344886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9001734 Neurocutaneous Syndromes ISO RGD:1344886 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:W210C (human) PMID:15574463|REF_RGD_ID:2317722 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9002304 Prostatic Neoplasms ISO RGD:735478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9002762 Ovarian Neoplasms ISO RGD:1344886 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:25741868|PMID:26467025|PMID:28492532|PMID:33471991 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9002928 Colonic Neoplasms ISO RGD:1344886 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:23080121|PMID:23912341|PMID:25452441|PMID:25741868|PMID:26556299|PMID:27329137|PMID:28492532|PMID:31033087 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9004583 Ataxia Telangiectasia Like Disorder ISO RGD:1344886 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:18854157|PMID:19383352|PMID:19732584|PMID:19763152|PMID:20052722|PMID:20307669|PMID:20805886|PMID:21227757|PMID:21252998|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22406018|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24033266|PMID:24093751|PMID:24332946|PMID:2433832|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27433846|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28699156|PMID:28715532|PMID:28849312|PMID:28873162|PMID:28888541|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29478780|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30306255|PMID:30441849|PMID:30613976|PMID:30924587|PMID:31033087|PMID:31159747|PMID:31273614|PMID:31360874|PMID:31780696|PMID:31887429|PMID:32039725|PMID:32427313|PMID:32449991|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32959997|PMID:33098801|PMID:33426167|PMID:33471991|PMID:33479248|PMID:33510186|PMID:33956305|PMID:35089076|PMID:36091175|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9006205 Animal Disease Models ISO RGD:735478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1344886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Triple-negative breast cancer PMID:26328243 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27433846|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28699156|PMID:28849312|PMID:28873162|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30441849|PMID:31159747|PMID:31273614|PMID:32566746|PMID:32658311|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26580448|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28849312|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29752822|PMID:29922827|PMID:30093976|PMID:31159747|PMID:31273614|PMID:32427313|PMID:32449991|PMID:32566746|PMID:32658311|PMID:33134171|PMID:33479248|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26580448|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28849312|PMID:28873162|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30613976|PMID:31159747|PMID:31273614|PMID:31780696|PMID:32427313|PMID:32449991|PMID:32566746|PMID:32658311|PMID:33134171|PMID:33471991|PMID:33479248|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26580448|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28849312|PMID:28873162|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30613976|PMID:31159747|PMID:31273614|PMID:31360874|PMID:31780696|PMID:32427313|PMID:32449991|PMID:32566746|PMID:32658311|PMID:33134171|PMID:33471991|PMID:33479248|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27433846|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28849312|PMID:28873162|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30613976|PMID:30924587|PMID:31033087|PMID:31159747|PMID:31273614|PMID:31360874|PMID:31780696|PMID:31887429|PMID:32039725|PMID:32427313|PMID:32449991|PMID:32566746|PMID:32658311|PMID:32832836|PMID:33134171|PMID:33471991|PMID:33479248|PMID:33956305|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:2433832|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27433846|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28699156|PMID:28715532|PMID:28849312|PMID:28873162|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29478780|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30441849|PMID:30613976|PMID:30924587|PMID:31033087|PMID:31159747|PMID:31273614|PMID:31360874|PMID:31780696|PMID:31887429|PMID:32039725|PMID:32427313|PMID:32449991|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32959997|PMID:33098801|PMID:33134171|PMID:33426167|PMID:33471991|PMID:33479248|PMID:33956305|PMID:36091175|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:2433832|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27433846|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28699156|PMID:28715532|PMID:28849312|PMID:28873162|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29478780|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30441849|PMID:30613976|PMID:30924587|PMID:31033087|PMID:31159747|PMID:31273614|PMID:31360874|PMID:31780696|PMID:31887429|PMID:32039725|PMID:32427313|PMID:32449991|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32959997|PMID:33098801|PMID:33134171|PMID:33426167|PMID:33471991|PMID:33479248|PMID:33510186|PMID:33956305|PMID:35089076|PMID:36091175|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:2433832|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27433846|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28699156|PMID:28715532|PMID:28849312|PMID:28873162|PMID:28888541|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29478780|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30306255|PMID:30441849|PMID:30613976|PMID:30924587|PMID:31033087|PMID:31159747|PMID:31273614|PMID:31360874|PMID:31780696|PMID:31887429|PMID:32039725|PMID:32427313|PMID:32449991|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32959997|PMID:33098801|PMID:33134171|PMID:33426167|PMID:33471991|PMID:33479248|PMID:33510186|PMID:33956305|PMID:35089076|PMID:36091175|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007720 Ataxia-Telangiectasia-Like Disorder 1 ISO RGD:1344886 D RGD:7240710 20180130 OMIM 12411998 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007720 Ataxia-Telangiectasia-Like Disorder 1 ISO RGD:1344886 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:15574463|PMID:16199547|PMID:16858402|PMID:18652530|PMID:18854157|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:21252998|PMID:21324166|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24033266|PMID:24332946|PMID:2433832|PMID:24549055|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25326635|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27124789|PMID:27153395|PMID:27329137|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28559769|PMID:28715532|PMID:28849312|PMID:28873162|PMID:28888541|PMID:29170652|PMID:29348823|PMID:29478780|PMID:29752822|PMID:29922827|PMID:30306255|PMID:30441849|PMID:30613976|PMID:31033087|PMID:31159747|PMID:31780696|PMID:32039725|PMID:32427313|PMID:32449991|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32832836|PMID:33098801|PMID:33426167|PMID:33471991|PMID:33479248|PMID:33956305|PMID:8445618|PMID:8684395|PMID:9845372 12412038 TINF2 TERF1 interacting nuclear factor 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1354058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12412038 TINF2 TERF1 interacting nuclear factor 2 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 ISO RGD:1354058 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 PMID:18669893|PMID:20301779|PMID:21199492|PMID:22211879|PMID:25741868|PMID:28492532 12412038 TINF2 TERF1 interacting nuclear factor 2 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1354058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:18252230|PMID:18669893|PMID:19090550|PMID:20301779|PMID:21199492|PMID:21477109|PMID:21536674|PMID:22211879|PMID:23094712|PMID:25741868|PMID:26083318|PMID:26859482|PMID:28492532|PMID:29742735 12412038 TINF2 TERF1 interacting nuclear factor 2 gene DOID:0070018 autosomal dominant dyskeratosis congenita 3 ISO RGD:1354058 D RGD:7240710 20180130 OMIM 12412038 TINF2 TERF1 interacting nuclear factor 2 gene DOID:0070018 autosomal dominant dyskeratosis congenita 3 ISO RGD:1354058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 3 PMID:17576681|PMID:18252230|PMID:18669893|PMID:18979121|PMID:19090550|PMID:19327580|PMID:20301779|PMID:20979174|PMID:21199492|PMID:21477109|PMID:21536674|PMID:22080964|PMID:22211879|PMID:22339828|PMID:22341970|PMID:23094712|PMID:25741868|PMID:26193622|PMID:26230315|PMID:26808569|PMID:26859482|PMID:27824607|PMID:28102861|PMID:28104920|PMID:28492532|PMID:28643950|PMID:28866069|PMID:29483670|PMID:29581185|PMID:29742735|PMID:30604317|PMID:9536098 12412038 TINF2 TERF1 interacting nuclear factor 2 gene DOID:0070026 Revesz syndrome ISO RGD:1354058 D RGD:7240710 20180130 OMIM 12412038 TINF2 TERF1 interacting nuclear factor 2 gene DOID:0070026 Revesz syndrome ISO RGD:1354058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Revesz syndrome PMID:17576681|PMID:18252230|PMID:18669893|PMID:18979121|PMID:19090550|PMID:19327580|PMID:20301779|PMID:20979174|PMID:21199492|PMID:21477109|PMID:21536674|PMID:22080964|PMID:22211879|PMID:22339828|PMID:22341970|PMID:23094712|PMID:25741868|PMID:26193622|PMID:26230315|PMID:26808569|PMID:26859482|PMID:27824607|PMID:28102861|PMID:28104920|PMID:28492532|PMID:28643950|PMID:28866069|PMID:29483670|PMID:29581185|PMID:29742735|PMID:30604317|PMID:9536098 12412038 TINF2 TERF1 interacting nuclear factor 2 gene DOID:12449 aplastic anemia ISO RGD:1354058 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:20301779 12412038 TINF2 TERF1 interacting nuclear factor 2 gene DOID:1612 breast cancer ISO RGD:1354058 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:18669893|PMID:20301779|PMID:25741868|PMID:28492532 12412038 TINF2 TERF1 interacting nuclear factor 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1354058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:16199547|PMID:17576681|PMID:18252230|PMID:18669893|PMID:18979121|PMID:19090550|PMID:19327580|PMID:20301779|PMID:20979174|PMID:21199492|PMID:21477109|PMID:21536674|PMID:22080964|PMID:22211879|PMID:22339828|PMID:22341970|PMID:23094712|PMID:25741868|PMID:26083318|PMID:26193622|PMID:26230315|PMID:26808569|PMID:26859482|PMID:27824607|PMID:28102861|PMID:28104920|PMID:28492532|PMID:28643950|PMID:28866069|PMID:29146883|PMID:29483670|PMID:29581185|PMID:29742735|PMID:30604317|PMID:32499645|PMID:9536098 12412038 TINF2 TERF1 interacting nuclear factor 2 gene DOID:2786 cerebellar disease ISO RGD:1354058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18252230 12412038 TINF2 TERF1 interacting nuclear factor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1354058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis 12412038 TINF2 TERF1 interacting nuclear factor 2 gene DOID:4123 nail disease ISO RGD:1354058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18252230 12412038 TINF2 TERF1 interacting nuclear factor 2 gene DOID:4961 bone marrow disease ISO RGD:1354058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18252230 12412038 TINF2 TERF1 interacting nuclear factor 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1354058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:16199547|PMID:25741868|PMID:28492532|PMID:32499645 12412038 TINF2 TERF1 interacting nuclear factor 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1354058 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12412038 TINF2 TERF1 interacting nuclear factor 2 gene DOID:9000981 Autosomal Dominant Dyskeratosis Congenita ISO RGD:1354058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12412038 TINF2 TERF1 interacting nuclear factor 2 gene DOID:9001272 Hoyeraal Hreidarsson Syndrome ISO RGD:1354058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome PMID:25741868|PMID:28492532 12412038 TINF2 TERF1 interacting nuclear factor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1354058 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12412038 TINF2 TERF1 interacting nuclear factor 2 gene DOID:9006257 Growth Disorders ISO RGD:1354058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18252230 12412051 HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 gene DOID:0111672 primary hyperoxaluria type 3 ISO RGD:1321399 D RGD:7240710 20180130 OMIM 12412051 HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 gene DOID:0111672 primary hyperoxaluria type 3 ISO RGD:1321399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:16199547|PMID:17576681|PMID:20797690|PMID:21896830|PMID:21998747|PMID:22391140|PMID:22771891|PMID:22781098|PMID:22851625|PMID:24033266|PMID:24563386|PMID:25629080|PMID:25644115|PMID:25741868|PMID:25972204|PMID:26340091|PMID:26342005|PMID:27096395|PMID:27561601|PMID:27742850|PMID:28492532|PMID:28711958|PMID:30488096|PMID:30609409|PMID:31123811|PMID:31401635|PMID:31589614|PMID:33350326|PMID:33495102|PMID:33865885|PMID:9536098 12412051 HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 gene DOID:13580 cholestasis ISO RGD:1321399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12412051 HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 gene DOID:2977 primary hyperoxaluria ISO RGD:1321399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:28492532 12412051 HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 gene DOID:630 genetic disease ISO RGD:1321399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12412062 TMEM132A transmembrane protein 132A gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12412062 TMEM132A transmembrane protein 132A gene DOID:1059 intellectual disability ISO RGD:1606273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12412062 TMEM132A transmembrane protein 132A gene DOID:630 genetic disease ISO RGD:1606273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412082 RPAP2 RNA polymerase II associated protein 2 gene DOID:630 genetic disease ISO RGD:1602679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412109 NRN1 neuritin 1 gene DOID:0111477 combined oxidative phosphorylation deficiency 14 ISO RGD:1351872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 PMID:22833457|PMID:28492532 12412109 NRN1 neuritin 1 gene DOID:630 genetic disease ISO RGD:1351872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412122 VSIG8 V-set and immunoglobulin domain containing 8 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1603819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12412122 VSIG8 V-set and immunoglobulin domain containing 8 gene DOID:1540 parathyroid carcinoma ISO RGD:1603819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12412122 VSIG8 V-set and immunoglobulin domain containing 8 gene DOID:630 genetic disease ISO RGD:1603819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412122 VSIG8 V-set and immunoglobulin domain containing 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12412141 KANK4 KN motif and ankyrin repeat domains 4 gene DOID:1059 intellectual disability ISO RGD:1603552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12412141 KANK4 KN motif and ankyrin repeat domains 4 gene DOID:1184 nephrotic syndrome ISO RGD:1603552 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25961457|PMID:28492532|PMID:29127259 12412141 KANK4 KN motif and ankyrin repeat domains 4 gene DOID:630 genetic disease ISO RGD:1603552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12412173 C6H16orf54 chromosome 6 C16orf54 homolog gene DOID:0060041 autism spectrum disorder ISO RGD:1605828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12412173 C6H16orf54 chromosome 6 C16orf54 homolog gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1605828 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12412173 C6H16orf54 chromosome 6 C16orf54 homolog gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1605828 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12412173 C6H16orf54 chromosome 6 C16orf54 homolog gene DOID:0080600 COVID-19 ISO RGD:1605828 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12412173 C6H16orf54 chromosome 6 C16orf54 homolog gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1605828 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12412173 C6H16orf54 chromosome 6 C16orf54 homolog gene DOID:12849 autistic disorder ISO RGD:1605828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12412173 C6H16orf54 chromosome 6 C16orf54 homolog gene DOID:1882 atrial heart septal defect ISO RGD:1605828 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12412173 C6H16orf54 chromosome 6 C16orf54 homolog gene DOID:5419 schizophrenia ISO RGD:1605828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12412173 C6H16orf54 chromosome 6 C16orf54 homolog gene DOID:630 genetic disease ISO RGD:1605828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412173 C6H16orf54 chromosome 6 C16orf54 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12412173 C6H16orf54 chromosome 6 C16orf54 homolog gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1605828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12412179 MYH14 myosin heavy chain 14 gene DOID:0110573 autosomal dominant nonsyndromic deafness 4A ISO RGD:1315652 D RGD:7240710 20180130 OMIM 12412179 MYH14 myosin heavy chain 14 gene DOID:0110573 autosomal dominant nonsyndromic deafness 4A ISO RGD:1315652 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 4A | ClinVar Annotator: match by term: Deafness, autosomal dominant 4A PMID:15015131|PMID:15845534|PMID:16222661|PMID:23967202|PMID:24033266|PMID:24082139|PMID:25741868|PMID:26284702|PMID:26346818|PMID:26467025|PMID:27393652|PMID:28221712|PMID:28492532|PMID:30311386|PMID:30828794|PMID:31231018 12412179 MYH14 myosin heavy chain 14 gene DOID:10003 sensorineural hearing loss ISO RGD:1315652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 12412179 MYH14 myosin heavy chain 14 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1315652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868 12412179 MYH14 myosin heavy chain 14 gene DOID:630 genetic disease ISO RGD:1315652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386 12412179 MYH14 myosin heavy chain 14 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12412179 MYH14 myosin heavy chain 14 gene DOID:9002779 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss ISO RGD:1315652 D RGD:7240710 20180130 OMIM 12412179 MYH14 myosin heavy chain 14 gene DOID:9002779 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss ISO RGD:1315652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy, myopathy, hoarseness, and hearing loss PMID:21480433|PMID:23806086|PMID:24033266|PMID:24088041|PMID:25741868|PMID:26257172|PMID:26346818|PMID:26752647|PMID:27393652|PMID:27911912|PMID:28492532|PMID:30311386|PMID:31231018|PMID:35274842 12412179 MYH14 myosin heavy chain 14 gene DOID:9004538 Hearing Loss ISO RGD:1315652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss PMID:24033266|PMID:25741868|PMID:27393652|PMID:28492532|PMID:30311386 12412179 MYH14 myosin heavy chain 14 gene DOID:9004538 Hearing Loss ISO RGD:1315652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:25741868|PMID:27393652|PMID:28492532|PMID:29293505|PMID:30311386 12412179 MYH14 myosin heavy chain 14 gene DOID:9005230 Autosomal Dominant Deafness 4 ISO RGD:1315652 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 4 PMID:15015131|PMID:15845534|PMID:16222661|PMID:23967202|PMID:24033266|PMID:24082139|PMID:25741868|PMID:26284702|PMID:26346818|PMID:26467025|PMID:27393652|PMID:28221712|PMID:28492532|PMID:30311386|PMID:30828794|PMID:31231018 12412179 MYH14 myosin heavy chain 14 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1315652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:28492532 12412242 LPAR6 lysophosphatidic acid receptor 6 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1349646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12412242 LPAR6 lysophosphatidic acid receptor 6 gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1349646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:17301081|PMID:26475597|PMID:28492532 12412242 LPAR6 lysophosphatidic acid receptor 6 gene DOID:0110698 hypotrichosis 1 ISO RGD:1349646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18297070 12412242 LPAR6 lysophosphatidic acid receptor 6 gene DOID:0110705 hypotrichosis 8 ISO RGD:1349646 D RGD:7240710 20220216 OMIM 12412242 LPAR6 lysophosphatidic acid receptor 6 gene DOID:0110705 hypotrichosis 8 ISO RGD:1349646 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypotrichosis 8 PMID:18297070|PMID:18297072|PMID:18461368|PMID:21070332|PMID:21426374|PMID:25119526|PMID:25741868 12412242 LPAR6 lysophosphatidic acid receptor 6 gene DOID:1059 intellectual disability ISO RGD:1349646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12412242 LPAR6 lysophosphatidic acid receptor 6 gene DOID:4535 hypotrichosis ISO RGD:1349646 D RGD:9068941 20220217 CTD CTD Direct Evidence: marker/mechanism PMID:18297072 12412242 LPAR6 lysophosphatidic acid receptor 6 gene DOID:630 genetic disease ISO RGD:1349646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412242 LPAR6 lysophosphatidic acid receptor 6 gene DOID:768 retinoblastoma ISO RGD:1349646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:15877282|PMID:17096365|PMID:17301081|PMID:21505449|PMID:22909775|PMID:23301675|PMID:25640679|PMID:26475597|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 12412242 LPAR6 lysophosphatidic acid receptor 6 gene DOID:768 retinoblastoma ISO RGD:1349646 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:17096365|PMID:21505449|PMID:22909775|PMID:23301675|PMID:25640679|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 12412242 LPAR6 lysophosphatidic acid receptor 6 gene DOID:9001083 Autosomal Recessive Woolly Hair ISO RGD:1349646 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Woolly hair, autosomal recessive 1, with or without hypotrichosis PMID:18297072|PMID:18461368|PMID:21426374|PMID:25741868 12412247 ABHD12B abhydrolase domain containing 12B gene DOID:630 genetic disease ISO RGD:1349841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412263 IFT81 intraflagellar transport 81 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868|PMID:26275418|PMID:27666822|PMID:28492532 12412263 IFT81 intraflagellar transport 81 gene DOID:0060340 ciliopathy ISO RGD:1606304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ciliopathy PMID:26275418|PMID:28492532 12412263 IFT81 intraflagellar transport 81 gene DOID:0080295 short-rib thoracic dysplasia 19 with or without polydactyly ISO RGD:1606304 D RGD:7240710 20190315 OMIM 12412263 IFT81 intraflagellar transport 81 gene DOID:0080295 short-rib thoracic dysplasia 19 with or without polydactyly ISO RGD:1606304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 19 with or without polydactyly PMID:25741868|PMID:26275418|PMID:27666822|PMID:28492532 12412263 IFT81 intraflagellar transport 81 gene DOID:630 genetic disease ISO RGD:1606304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12412263 IFT81 intraflagellar transport 81 gene DOID:9007661 Dwarfism ISO RGD:1606304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:28492532 12412347 LOC102157013 testis-expressed protein 13D-like gene DOID:12849 autistic disorder ISO RGD:10449361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12412347 LOC102157013 testis-expressed protein 13D-like gene DOID:9003937 X Chromosome, Trisomy Xq25 ISO RGD:10449361 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Xq25 duplication syndrome 12412387 RHPN2 rhophilin Rho GTPase binding protein 2 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1318093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12412387 RHPN2 rhophilin Rho GTPase binding protein 2 gene DOID:630 genetic disease ISO RGD:1318093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412387 RHPN2 rhophilin Rho GTPase binding protein 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318093 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19011631 12412387 RHPN2 rhophilin Rho GTPase binding protein 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1318093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:28492532 12412406 SLC44A1 solute carrier family 44 member 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1352703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 12412406 SLC44A1 solute carrier family 44 member 1 gene DOID:3070 high grade glioma ISO RGD:1352703 D RGD:9068941 20200609 RGD DNA:gene fusion: : PMID:26671581|REF_RGD_ID:11087038 12412406 SLC44A1 solute carrier family 44 member 1 gene DOID:630 genetic disease ISO RGD:1352703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412406 SLC44A1 solute carrier family 44 member 1 gene DOID:9002043 Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline ISO RGD:1352703 D RGD:7240710 20200805 OMIM 12412406 SLC44A1 solute carrier family 44 member 1 gene DOID:9002043 Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline ISO RGD:1352703 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline PMID:25741868|PMID:28097321|PMID:31855247 12412406 SLC44A1 solute carrier family 44 member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12412436 NFYB nuclear transcription factor Y subunit beta gene DOID:630 genetic disease ISO RGD:1352074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412471 TNFSF9 TNF superfamily member 9 gene DOID:0080490 mucolipidosis type IV ISO RGD:1343892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12412471 TNFSF9 TNF superfamily member 9 gene DOID:12930 dilated cardiomyopathy ISO RGD:1343892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 12412471 TNFSF9 TNF superfamily member 9 gene DOID:2377 multiple sclerosis ISO RGD:1343892 D RGD:9068941 20200609 RGD protein:increased expression:plasma, monocyte (human) PMID:16970683|REF_RGD_ID:2317352 12412471 TNFSF9 TNF superfamily member 9 gene DOID:2773 contact dermatitis ISO RGD:1343892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12412471 TNFSF9 TNF superfamily member 9 gene DOID:630 genetic disease ISO RGD:1343892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412471 TNFSF9 TNF superfamily member 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1615149 D RGD:9068941 20200609 RGD PMID:17325342|REF_RGD_ID:2317348 12412471 TNFSF9 TNF superfamily member 9 gene DOID:707 B-cell lymphoma ISO RGD:1615149 D RGD:9068941 20200609 RGD PMID:10202049|REF_RGD_ID:2317349 12412471 TNFSF9 TNF superfamily member 9 gene DOID:820 myocarditis ISO RGD:1343892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11745696|PMID:12031769 12412471 TNFSF9 TNF superfamily member 9 gene DOID:9000217 Stomach Neoplasms ISO RGD:1343892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12412471 TNFSF9 TNF superfamily member 9 gene DOID:9000220 Coxsackievirus Infections ISO RGD:1343892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11745696 12412471 TNFSF9 TNF superfamily member 9 gene DOID:9119 acute myeloid leukemia ISO RGD:1343892 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:11564827|REF_RGD_ID:2317350 12412471 TNFSF9 TNF superfamily member 9 gene DOID:9256 colorectal cancer ISO RGD:1343892 D RGD:9068941 20200609 RGD protein:decreased expression:colon, rectum, mucosa (human) PMID:16596186|REF_RGD_ID:2317353 12412471 TNFSF9 TNF superfamily member 9 gene DOID:934 viral infectious disease ISO RGD:1343892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 12412478 HTATIP2 HIV-1 Tat interactive protein 2 gene DOID:1059 intellectual disability ISO RGD:1320556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12412478 HTATIP2 HIV-1 Tat interactive protein 2 gene DOID:630 genetic disease ISO RGD:1320556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412478 HTATIP2 HIV-1 Tat interactive protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1320556 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16799960 12412491 EXOSC10 exosome component 10 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1349336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12412491 EXOSC10 exosome component 10 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1349336 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12412491 EXOSC10 exosome component 10 gene DOID:0111936 immunodeficiency 14 ISO RGD:1349336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 12412491 EXOSC10 exosome component 10 gene DOID:630 genetic disease ISO RGD:1349336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412491 EXOSC10 exosome component 10 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1349336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 12412523 FGD2 FYVE, RhoGEF and PH domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1320399 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12412523 FGD2 FYVE, RhoGEF and PH domain containing 2 gene DOID:10283 prostate cancer ISO RGD:1320399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12412523 FGD2 FYVE, RhoGEF and PH domain containing 2 gene DOID:5119 ovarian cyst ISO RGD:1320399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12412523 FGD2 FYVE, RhoGEF and PH domain containing 2 gene DOID:630 genetic disease ISO RGD:1320399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412546 SERPINB10 serpin family B member 10 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:733342 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12412546 SERPINB10 serpin family B member 10 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:733342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 12412546 SERPINB10 serpin family B member 10 gene DOID:0080600 COVID-19 ISO RGD:733342 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12412546 SERPINB10 serpin family B member 10 gene DOID:630 genetic disease ISO RGD:733342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412546 SERPINB10 serpin family B member 10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16172807 12412558 KRI1 KRI1 homolog gene DOID:630 genetic disease ISO RGD:1607005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:0080600 COVID-19 ISO RGD:730923 D RGD:9068941 20211224 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:10283 prostate cancer ISO RGD:730923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:10652 Alzheimer's disease ISO RGD:730923 D RGD:9068941 20211224 RGD protein:increased expression:cerebral cortex,cytoplasm: PMID:11939591|REF_RGD_ID:10401093 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:730923 D RGD:9068941 20211224 RGD mRNA:increased expression:bladder PMID:20421545|REF_RGD_ID:13602004 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:12858 Huntington's disease ISO RGD:728892 D RGD:9068941 20211224 RGD protein:increased expression:brain PMID:18768156|REF_RGD_ID:2316262 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:12858 Huntington's disease ISO RGD:730923 D RGD:9068941 20211224 RGD protein:increased expression:brain PMID:18768156|REF_RGD_ID:2316262 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:12894 Sjogren's syndrome ISO RGD:730924 D RGD:9068941 20220825 MouseDO OMIM:270150 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:1307 dementia ISO RGD:730923 D RGD:9068941 20211224 RGD associated with Down Syndrome;protein:increased expression:frontal cortex; PMID:11423103|REF_RGD_ID:10401091 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:14566 disease of cellular proliferation ISO RGD:730923 D RGD:9068941 20211224 CTD CTD Direct Evidence: marker/mechanism PMID:29464002 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:1793 pancreatic cancer treatment ISO RGD:728892 D RGD:9068941 20211224 RGD PMID:28344092|REF_RGD_ID:13838737 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:1909 melanoma ISO RGD:730923 D RGD:9068941 20211224 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15574415|PMID:16827129 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:2843 long QT syndrome ISO RGD:730923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:3068 glioblastoma disease_progression ISO RGD:730923 D RGD:9068941 20211224 RGD PMID:16264179|REF_RGD_ID:13702471 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:3070 high grade glioma severity ISO RGD:730923 D RGD:9068941 20211224 RGD PMID:28042322|REF_RGD_ID:13702468 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:3347 osteosarcoma ISO RGD:730923 D RGD:9068941 20220128 RGD human cells in mouse model PMID:29039472|REF_RGD_ID:151347601 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:3347 osteosarcoma severity ISO RGD:730923 D RGD:9068941 20220128 RGD protein:increased expression:bone (human) PMID:29039472|REF_RGD_ID:151347601 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:730923 D RGD:9068941 20211224 RGD protein:increased expression:pancreatic ductal cell, nucleus (human) PMID:27573434|REF_RGD_ID:13838738 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:730923 D RGD:9068941 20211224 RGD DNA:amplification: : (human) PMID:17233815|REF_RGD_ID:13838739 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:730923 D RGD:9068941 20211224 RGD protein:increased expression:pancreatic ductal cell, nucleus (human) PMID:12650514|REF_RGD_ID:13838735 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:3907 lung squamous cell carcinoma treatment ISO RGD:730923 D RGD:9068941 20211224 RGD PMID:28927142|REF_RGD_ID:13464332 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730923 D RGD:9068941 20211224 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:730923 D RGD:9068941 20211224 RGD PMID:12237873|REF_RGD_ID:13464342 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:730923 D RGD:9068941 20211224 RGD PMID:23543735|REF_RGD_ID:9590260 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:730923 D RGD:9068941 20211224 RGD PMID:12358350|PMID:28498400|REF_RGD_ID:13464333|REF_RGD_ID:13464343 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:3910 lung adenocarcinoma ISO RGD:730923 D RGD:9068941 20211224 RGD mRNA:increased expression:lung PMID:26695082|REF_RGD_ID:13464334 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:730923 D RGD:9068941 20211224 RGD Human cells in a mouse model PMID:28797284|REF_RGD_ID:13838736 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:5409 lung small cell carcinoma ISO RGD:730923 D RGD:9068941 20211224 RGD mRNA, protein:increased expression:lung PMID:11313916|REF_RGD_ID:13464344 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:730923 D RGD:9068941 20211224 RGD PMID:24755270|REF_RGD_ID:13464335 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:5409 lung small cell carcinoma treatment ISO RGD:730923 D RGD:9068941 20211224 RGD PMID:23792570|REF_RGD_ID:13464337 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:630 genetic disease ISO RGD:730923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:646 viral encephalitis ISO RGD:730923 D RGD:9068941 20211224 RGD associated with HIV Infections; protein:increased expression:brain, neuron, cytoplasm: PMID:11896158|REF_RGD_ID:10401094 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:730923 D RGD:9068941 20211224 CTD CTD Direct Evidence: marker/mechanism PMID:12029619|PMID:15565109|PMID:28284560 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:8552 chronic myeloid leukemia ISO RGD:730923 D RGD:9068941 20211224 RGD mRNA:increased expression:blood PMID:26460262|REF_RGD_ID:13674165 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:730923 D RGD:9068941 20220128 RGD protein:increased expression:bone (human) PMID:29039472|REF_RGD_ID:151347601 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730923 D RGD:9068941 20211224 CTD CTD Direct Evidence: marker/mechanism PMID:30515189 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:9008939 Breast Neoplasms ISO RGD:730923 D RGD:9068941 20211224 CTD CTD Direct Evidence: marker/mechanism PMID:14672398 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730924 D RGD:9068941 20211224 RGD E2f1/E2f2 double knockout PMID:15146237|REF_RGD_ID:1300306 12412586 NECAB3 N-terminal EF-hand calcium binding protein 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730924 D RGD:9068941 20220825 MouseDO OMIM:222100 12412601 STYK1 serine/threonine/tyrosine kinase 1 gene DOID:630 genetic disease ISO RGD:1348462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412612 B3GALT1 beta-1,3-galactosyltransferase 1 gene DOID:10283 prostate cancer ISO RGD:1323596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12412612 B3GALT1 beta-1,3-galactosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1323596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412626 ZNF488 zinc finger protein 488 gene DOID:5419 schizophrenia ISO RGD:1320391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12412626 ZNF488 zinc finger protein 488 gene DOID:630 genetic disease ISO RGD:1320391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412643 HTR4 5-hydroxytryptamine receptor 4 gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:736061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17218722 12412643 HTR4 5-hydroxytryptamine receptor 4 gene DOID:0060224 atrial fibrillation ISO RGD:736061 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7886817 12412643 HTR4 5-hydroxytryptamine receptor 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736061 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12412643 HTR4 5-hydroxytryptamine receptor 4 gene DOID:1749 squamous cell carcinoma ISO RGD:736061 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 12412643 HTR4 5-hydroxytryptamine receptor 4 gene DOID:3910 lung adenocarcinoma ISO RGD:736061 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 12412643 HTR4 5-hydroxytryptamine receptor 4 gene DOID:630 genetic disease ISO RGD:736061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412643 HTR4 5-hydroxytryptamine receptor 4 gene DOID:8689 anorexia nervosa ISO RGD:10750 D RGD:9068941 20220825 MouseDO 12412643 HTR4 5-hydroxytryptamine receptor 4 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:736061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9806222 12412643 HTR4 5-hydroxytryptamine receptor 4 gene DOID:9001109 Anorexia ISO RGD:736061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15146954 12412643 HTR4 5-hydroxytryptamine receptor 4 gene DOID:9002554 Tachycardia ISO RGD:736061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7886817 12412643 HTR4 5-hydroxytryptamine receptor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12412643 HTR4 5-hydroxytryptamine receptor 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736061 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12412643 HTR4 5-hydroxytryptamine receptor 4 gene DOID:9007096 Stroke ISO RGD:736061 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7886817 12412661 CAMTA2 calmodulin binding transcription activator 2 gene DOID:0050941 spastic ataxia 2 ISO RGD:1322678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 12412661 CAMTA2 calmodulin binding transcription activator 2 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:1322678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 12412661 CAMTA2 calmodulin binding transcription activator 2 gene DOID:630 genetic disease ISO RGD:1322678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412700 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:0080196 mandibulofacial dysostosis, Guion-Almeida type ISO RGD:1606577 D RGD:7240710 20180130 OMIM 12412700 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:0080196 mandibulofacial dysostosis, Guion-Almeida type ISO RGD:1606577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Mandibulofacial dysostosis-microcephaly syndrome PMID:16199547|PMID:16760738|PMID:19334086|PMID:22305528|PMID:22541558|PMID:23188108|PMID:24470203|PMID:24999515|PMID:25326635|PMID:25326637|PMID:25387991|PMID:25741868|PMID:26507355|PMID:28492532|PMID:28708303|PMID:32333448|PMID:32410215 12412700 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:10485 esophageal atresia ISO RGD:1606577 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:23188108|REF_RGD_ID:10045556 12412700 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:10907 microcephaly ISO RGD:1606577 D RGD:9068941 20230105 RGD associated with mandibulofacial dysostosis, Guion-Almeida type;DNA:mutations:cds:multiple PMID:24470203|REF_RGD_ID:155791662 12412700 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:2043 hepatitis B susceptibility ISO RGD:1606577 D RGD:9068941 20230105 RGD PMID:34436958|REF_RGD_ID:155791665 12412700 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:219 colon cancer ameliorates ISO RGD:1557328 D RGD:9068941 20230105 RGD associated with colitis; PMID:31278373|REF_RGD_ID:155791667 12412700 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:630 genetic disease ISO RGD:1606577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24470203|PMID:25741868|PMID:26507355|PMID:28492532 12412700 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1606577 D RGD:9068941 20230105 RGD PMID:34282556|REF_RGD_ID:155791664 12412700 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1606577 D RGD:9068941 20230105 RGD PMID:34282556|REF_RGD_ID:155791664 12412700 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:1606577 D RGD:9068941 20230105 RGD protein:increased expression:trophoblast, decidua: PMID:32447180|REF_RGD_ID:155791666 12412700 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606577 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12412700 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:9004538 Hearing Loss ISO RGD:1606577 D RGD:9068941 20230105 RGD associated with mandibulofacial dysostosis, Guion-Almeida type;DNA:mutations:cds:multiple PMID:24470203|REF_RGD_ID:155791662 12412700 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:9005147 Hydatidiform Mole ISO RGD:1606577 D RGD:9068941 20230105 RGD protein:increased expression:trophoblast, decidua: PMID:32447180|REF_RGD_ID:155791666 12412700 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:9008003 Mandibulofacial Dysostosis ISO RGD:1606577 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:23188108|REF_RGD_ID:10045556 12412700 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1606577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741880 12412700 EFTUD2 elongation factor Tu GTP binding domain containing 2 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1606577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 12412738 ZMYND15 zinc finger MYND-type containing 15 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1320408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 12412738 ZMYND15 zinc finger MYND-type containing 15 gene DOID:0070179 spermatogenic failure 14 ISO RGD:1320408 D RGD:7240710 20180130 OMIM 12412738 ZMYND15 zinc finger MYND-type containing 15 gene DOID:0070179 spermatogenic failure 14 ISO RGD:1320408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 14 PMID:33169450 12412738 ZMYND15 zinc finger MYND-type containing 15 gene DOID:12336 male infertility ISO RGD:1320408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 12412738 ZMYND15 zinc finger MYND-type containing 15 gene DOID:630 genetic disease ISO RGD:1320408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412760 CD55 CD55 molecule gene DOID:0050589 inflammatory bowel disease ISO RGD:737499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 12412760 CD55 CD55 molecule gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:737499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 12412760 CD55 CD55 molecule gene DOID:10283 prostate cancer ISO RGD:737499 D RGD:9068941 20200609 RGD PMID:16533428|PMID:18288643|REF_RGD_ID:2326167|REF_RGD_ID:2326168 12412760 CD55 CD55 molecule gene DOID:10611 protein-losing enteropathy ISO RGD:737499 D RGD:7240710 20190315 OMIM 12412760 CD55 CD55 molecule gene DOID:10611 protein-losing enteropathy ISO RGD:737499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Protein-losing enteropathy PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:28657829|PMID:28657861|PMID:9536098 12412760 CD55 CD55 molecule gene DOID:12849 autistic disorder ISO RGD:737499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12412760 CD55 CD55 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:737499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12412760 CD55 CD55 molecule gene DOID:1612 breast cancer disease_progression ISO RGD:737499 D RGD:9068941 20200609 RGD PMID:15102687|PMID:18676748|REF_RGD_ID:2326166|REF_RGD_ID:2326170 12412760 CD55 CD55 molecule gene DOID:2870 endometrial adenocarcinoma ISO RGD:737499 D RGD:9068941 20200609 RGD PMID:11506079|REF_RGD_ID:2326173 12412760 CD55 CD55 molecule gene DOID:289 endometriosis ISO RGD:737499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12412760 CD55 CD55 molecule gene DOID:4362 cervical cancer ISO RGD:737499 D RGD:9068941 20200609 RGD PMID:9358772|REF_RGD_ID:2293549 12412760 CD55 CD55 molecule gene DOID:576 proteinuria ISO RGD:620651 D RGD:9068941 20200609 RGD PMID:12427125|REF_RGD_ID:2326179 12412760 CD55 CD55 molecule gene DOID:630 genetic disease ISO RGD:737499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12412760 CD55 CD55 molecule gene DOID:670 amphetamine abuse ISO RGD:737499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12412760 CD55 CD55 molecule gene DOID:769 neuroblastoma ISO RGD:620651 D RGD:9068941 20200609 RGD PMID:10850450|REF_RGD_ID:2326181 12412760 CD55 CD55 molecule gene DOID:9000469 Viral Myocarditis treatment ISO RGD:737499 D RGD:9068941 20200609 RGD PMID:12533688|REF_RGD_ID:13702890 12412760 CD55 CD55 molecule gene DOID:9004009 Reperfusion Injury ISO RGD:620651 D RGD:9068941 20200609 RGD PMID:20403613|REF_RGD_ID:2326175 12412760 CD55 CD55 molecule gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:737499 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12412760 CD55 CD55 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12412787 CRTAM cytotoxic and regulatory T cell molecule gene DOID:5419 schizophrenia ISO RGD:1606263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12412787 CRTAM cytotoxic and regulatory T cell molecule gene DOID:630 genetic disease ISO RGD:1606263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412787 CRTAM cytotoxic and regulatory T cell molecule gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12412787 CRTAM cytotoxic and regulatory T cell molecule gene DOID:9007661 Dwarfism ISO RGD:1606263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12412808 DIPK2A divergent protein kinase domain 2A gene DOID:0060041 autism spectrum disorder ISO RGD:1603352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21283809 12412808 DIPK2A divergent protein kinase domain 2A gene DOID:12849 autistic disorder ISO RGD:1603352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18621663 12412808 DIPK2A divergent protein kinase domain 2A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12412815 CTU1 cytosolic thiouridylase subunit 1 gene DOID:630 genetic disease ISO RGD:1602450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412815 CTU1 cytosolic thiouridylase subunit 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1602450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 12412815 CTU1 cytosolic thiouridylase subunit 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1602450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 12412815 CTU1 cytosolic thiouridylase subunit 1 gene DOID:9006205 Animal Disease Models ISO RGD:1602450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 12412815 CTU1 cytosolic thiouridylase subunit 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1602450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 12412822 MIER2 MIER family member 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1316379 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12412822 MIER2 MIER family member 2 gene DOID:630 genetic disease ISO RGD:1316379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412822 MIER2 MIER family member 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1316379 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12412848 SPATA32 spermatogenesis associated 32 gene DOID:630 genetic disease ISO RGD:1603588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412879 LOC100856260 5-hydroxytryptamine receptor 3E gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1347568 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12412879 LOC100856260 5-hydroxytryptamine receptor 3E gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1347568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12412879 LOC100856260 5-hydroxytryptamine receptor 3E gene DOID:0111546 Currarino syndrome ISO RGD:1347568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12412879 LOC100856260 5-hydroxytryptamine receptor 3E gene DOID:630 genetic disease ISO RGD:1347568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412892 GBX1 gastrulation brain homeobox 1 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1352199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 12412892 GBX1 gastrulation brain homeobox 1 gene DOID:2843 long QT syndrome ISO RGD:1352199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 12412892 GBX1 gastrulation brain homeobox 1 gene DOID:630 genetic disease ISO RGD:1352199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412947 C1GALT1C1L C1GALT1 specific chaperone 1 like gene DOID:630 genetic disease ISO RGD:9999358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412957 SLC2A3 solute carrier family 2 member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:737055 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12412957 SLC2A3 solute carrier family 2 member 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:737055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12412957 SLC2A3 solute carrier family 2 member 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:737055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12412957 SLC2A3 solute carrier family 2 member 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:737055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12412957 SLC2A3 solute carrier family 2 member 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:737055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12412957 SLC2A3 solute carrier family 2 member 3 gene DOID:0111621 Temtamy syndrome ISO RGD:737055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12412957 SLC2A3 solute carrier family 2 member 3 gene DOID:10652 Alzheimer's disease ISO RGD:737055 D RGD:9068941 20200609 RGD PMID:8179300|REF_RGD_ID:2313620 12412957 SLC2A3 solute carrier family 2 member 3 gene DOID:10763 hypertension ISO RGD:3706 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus, parietal cortex; protein:increased expression:hypothalamus, thalamus PMID:7598707|REF_RGD_ID:1642812 12412957 SLC2A3 solute carrier family 2 member 3 gene DOID:3042 allergic contact dermatitis ISO RGD:737055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 12412957 SLC2A3 solute carrier family 2 member 3 gene DOID:3138 acanthosis nigricans ISO RGD:737055 D RGD:9068941 20200609 RGD secondary to insulin resistance; mRNA,protein:decreased expression:muscle PMID:11436180|REF_RGD_ID:1642802 12412957 SLC2A3 solute carrier family 2 member 3 gene DOID:630 genetic disease ISO RGD:737055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412957 SLC2A3 solute carrier family 2 member 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:737055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12412957 SLC2A3 solute carrier family 2 member 3 gene DOID:83 cataract ISO RGD:3706 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:12882795|REF_RGD_ID:2313618 12412957 SLC2A3 solute carrier family 2 member 3 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:737055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 12412957 SLC2A3 solute carrier family 2 member 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3706 D RGD:9068941 20200609 RGD protein:increased expression:placenta PMID:11738800|REF_RGD_ID:730192 12412957 SLC2A3 solute carrier family 2 member 3 gene DOID:9004009 Reperfusion Injury ISO RGD:3706 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:19781384|REF_RGD_ID:2313601 12412957 SLC2A3 solute carrier family 2 member 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3706 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain PMID:17935675|REF_RGD_ID:2313617 12412957 SLC2A3 solute carrier family 2 member 3 gene DOID:9007692 Insulin Resistance ISO RGD:737055 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:muscle PMID:11436180|REF_RGD_ID:1642802 12412957 SLC2A3 solute carrier family 2 member 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:737055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12412957 SLC2A3 solute carrier family 2 member 3 gene DOID:9351 diabetes mellitus ISO RGD:737055 D RGD:9068941 20200609 RGD PMID:10086067|REF_RGD_ID:2313619 12412957 SLC2A3 solute carrier family 2 member 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737055 D RGD:9068941 20200609 RGD protein:decreased expression:granulocyte, lymphocyte, monocyte PMID:19110659|REF_RGD_ID:2313602 12412957 SLC2A3 solute carrier family 2 member 3 gene DOID:9455 lipid storage disease ISO RGD:737055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414 12412971 LGALS3 galectin 3 gene DOID:0080600 COVID-19 ISO RGD:736304 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12412971 LGALS3 galectin 3 gene DOID:0080600 COVID-19 severity ISO RGD:736304 D RGD:9068941 20220217 RGD PMID:35115644|REF_RGD_ID:151356744 12412971 LGALS3 galectin 3 gene DOID:10763 hypertension treatment ISO RGD:69356 D RGD:9068941 20200609 RGD PMID:23117656|REF_RGD_ID:9685203 12412971 LGALS3 galectin 3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:69356 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:20557304|REF_RGD_ID:9685226 12412971 LGALS3 galectin 3 gene DOID:10952 nephritis ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11044214 12412971 LGALS3 galectin 3 gene DOID:1712 aortic valve stenosis ISO RGD:736304 D RGD:9068941 20200609 RGD PMID:15520318|REF_RGD_ID:9685214 12412971 LGALS3 galectin 3 gene DOID:178 vascular disease ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27870162 12412971 LGALS3 galectin 3 gene DOID:1909 melanoma ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23994248 12412971 LGALS3 galectin 3 gene DOID:219 colon cancer treatment ISO RGD:69356 D RGD:9068941 20211210 RGD PMID:28032729|REF_RGD_ID:150530464 12412971 LGALS3 galectin 3 gene DOID:2316 brain ischemia ISO RGD:69356 D RGD:9068941 20200609 RGD PMID:10931529|REF_RGD_ID:9685227 12412971 LGALS3 galectin 3 gene DOID:2841 asthma treatment ISO RGD:736304 D RGD:9068941 20200609 RGD PMID:16424226|REF_RGD_ID:9685213 12412971 LGALS3 galectin 3 gene DOID:3021 acute kidney failure ISO RGD:69356 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:10980121|REF_RGD_ID:9685228 12412971 LGALS3 galectin 3 gene DOID:3070 high grade glioma disease_progression ISO RGD:69356 D RGD:9068941 20200609 RGD PMID:23179497|REF_RGD_ID:9685225 12412971 LGALS3 galectin 3 gene DOID:5082 liver cirrhosis ISO RGD:736304 D RGD:9068941 20200609 RGD PMID:16549783|REF_RGD_ID:9685224 12412971 LGALS3 galectin 3 gene DOID:5844 myocardial infarction ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29769800 12412971 LGALS3 galectin 3 gene DOID:6000 congestive heart failure ISO RGD:69356 D RGD:9068941 20200609 RGD PMID:15520318|REF_RGD_ID:9685214 12412971 LGALS3 galectin 3 gene DOID:630 genetic disease ISO RGD:736304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12412971 LGALS3 galectin 3 gene DOID:8398 osteoarthritis ISO RGD:736304 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34894372 12412971 LGALS3 galectin 3 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:69356 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:17706429|REF_RGD_ID:9685206 12412971 LGALS3 galectin 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17634542 12412971 LGALS3 galectin 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21750908 12412971 LGALS3 galectin 3 gene DOID:9000740 ST Elevation Myocardial Infarction ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29769800 12412971 LGALS3 galectin 3 gene DOID:9000784 Fibrosis ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27870162 12412971 LGALS3 galectin 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25882088 12412971 LGALS3 galectin 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69356 D RGD:9068941 20200609 RGD PMID:12646584|REF_RGD_ID:9685223 12412971 LGALS3 galectin 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16549783|PMID:25380136 12412971 LGALS3 galectin 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736305 D RGD:9068941 20200609 RGD PMID:16549783|REF_RGD_ID:9685224 12412971 LGALS3 galectin 3 gene DOID:9002457 Experimental Arthritis ISO RGD:69356 D RGD:9068941 20200609 RGD PMID:16507131|REF_RGD_ID:1625684 12412971 LGALS3 galectin 3 gene DOID:9002514 Neointima ISO RGD:69356 D RGD:9068941 20200609 RGD mRNA:increased expression:thoracic aorta PMID:9688561|REF_RGD_ID:9685205 12412971 LGALS3 galectin 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12412971 LGALS3 galectin 3 gene DOID:9004017 Chronic Hepatitis C ISO RGD:736304 D RGD:9068941 20200626 RGD mRNA:increased expression:CD19+Bcell: PMID:20189883|REF_RGD_ID:32716380 12412971 LGALS3 galectin 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:69356 D RGD:9068941 20200609 RGD PMID:21249158|REF_RGD_ID:9685210 12412971 LGALS3 galectin 3 gene DOID:9005749 Necrosis ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461450 12412971 LGALS3 galectin 3 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:69356 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:10980121|REF_RGD_ID:9685228 12412971 LGALS3 galectin 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461450 12412971 LGALS3 galectin 3 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16322222 12412971 LGALS3 galectin 3 gene DOID:9452 fatty liver disease ISO RGD:736305 D RGD:9068941 20220825 MouseDO OMIM:228100 12412971 LGALS3 galectin 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69356 D RGD:9068941 20200609 RGD PMID:16600178|REF_RGD_ID:9685204 12412989 NUDCD1 NudC domain containing 1 gene DOID:630 genetic disease ISO RGD:1349940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413011 GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic gene DOID:0110222 Brugada syndrome 5 ISO RGD:1354511 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12413011 GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1354511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12413011 GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic gene DOID:10283 prostate cancer ISO RGD:1354511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12413011 GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic gene DOID:10652 Alzheimer's disease ISO RGD:1354511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 12413011 GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic gene DOID:10652 Alzheimer's disease onset ISO RGD:1354511 D RGD:9068941 20200609 RGD DNA:snps:promoter, intron: (rs4806173, rs12984928) (human) PMID:15507493|REF_RGD_ID:1358618 12413011 GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic gene DOID:543 dystonia ISO RGD:1354511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12413011 GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic gene DOID:630 genetic disease ISO RGD:1354511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413031 EIF4B eukaryotic translation initiation factor 4B gene DOID:0060041 autism spectrum disorder ISO RGD:1315118 D RGD:9068941 20200609 RGD protein:decreased expression:fusiform gyrus PMID:25627160|REF_RGD_ID:11049140 12413031 EIF4B eukaryotic translation initiation factor 4B gene DOID:1470 major depressive disorder ISO RGD:1315118 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex PMID:21635931|REF_RGD_ID:11049139 12413031 EIF4B eukaryotic translation initiation factor 4B gene DOID:630 genetic disease ISO RGD:1315118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413055 RGMB repulsive guidance molecule BMP co-receptor b gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350725 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12413055 RGMB repulsive guidance molecule BMP co-receptor b gene DOID:630 genetic disease ISO RGD:1350725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413055 RGMB repulsive guidance molecule BMP co-receptor b gene DOID:7148 rheumatoid arthritis ISO RGD:1350725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 12413055 RGMB repulsive guidance molecule BMP co-receptor b gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 12413055 RGMB repulsive guidance molecule BMP co-receptor b gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12413055 RGMB repulsive guidance molecule BMP co-receptor b gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350725 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12413061 TSNAX translin associated factor X gene DOID:1540 parathyroid carcinoma ISO RGD:1346427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12413061 TSNAX translin associated factor X gene DOID:630 genetic disease ISO RGD:1346427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413061 TSNAX translin associated factor X gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1346427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 12413061 TSNAX translin associated factor X gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12413071 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:2747 glycogen storage disease ISO RGD:1314958 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glycogen storage disease PMID:17994282|PMID:20071996|PMID:20490926|PMID:23430490|PMID:24033266|PMID:25602008|PMID:25741868|PMID:26984562|PMID:28492532|PMID:29374762|PMID:31980526|PMID:8990006|PMID:9412782 12413071 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:2748 glycogen storage disease III ISO RGD:1314958 D RGD:7240710 20180130 OMIM 12413071 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:2748 glycogen storage disease III ISO RGD:1314958 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type III PMID:10472540|PMID:10571954|PMID:10655153|PMID:10801050|PMID:10925384|PMID:10982190|PMID:11378828|PMID:11757581|PMID:11924557|PMID:11949933|PMID:11977176|PMID:12442284|PMID:12955720|PMID:15542399|PMID:15833157|PMID:16189622|PMID:16199547|PMID:16705713|PMID:17047887|PMID:17196294|PMID:17576681|PMID:17895567|PMID:17908927|PMID:17915576|PMID:17994282|PMID:18617770|PMID:18785866|PMID:18924225|PMID:19299494|PMID:19754354|PMID:19763152|PMID:19834502|PMID:19951465|PMID:19951495|PMID:20071996|PMID:20158661|PMID:20307669|PMID:20490926|PMID:20526204|PMID:20648714|PMID:21228398|PMID:21321962|PMID:21691223|PMID:22089644|PMID:22406018|PMID:22899091|PMID:22995991|PMID:23062577|PMID:23207808|PMID:23430490|PMID:23430832|PMID:23430941|PMID:23649758|PMID:24033266|PMID:24257475|PMID:24495762|PMID:24824133|PMID:25388549|PMID:25431232|PMID:25451272|PMID:25451950|PMID:25525159|PMID:25602008|PMID:25741868|PMID:25827695|PMID:26885414|PMID:26913919|PMID:26984562|PMID:27088557|PMID:27106217|PMID:27460348|PMID:27604308|PMID:28039895|PMID:28074886|PMID:28492532|PMID:28720891|PMID:28888851|PMID:29374762|PMID:29614965|PMID:29794575|PMID:30916492|PMID:31028654|PMID:31319225|PMID:31508908|PMID:31661040|PMID:31980526|PMID:32222031|PMID:32374048|PMID:32528171|PMID:32772503|PMID:33344388|PMID:34019008|PMID:34134972|PMID:34298581|PMID:34649782|PMID:34820282|PMID:8702417|PMID:8755644|PMID:87556440|PMID:8990006|PMID:9332391|PMID:9412782|PMID:9490286|PMID:9536098|PMID:9584265 12413071 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:2748 glycogen storage disease III susceptibility ISO RGD:1314958 D RGD:9068941 20200609 RGD DNA:missense mutations, frameshift mutations, nonsense mutations: :multiple PMID:16705713|REF_RGD_ID:1601129 12413071 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:4676 uremia ISO RGD:1306376 D RGD:9068941 20200609 RGD PMID:807434|REF_RGD_ID:1598784 12413071 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:630 genetic disease ISO RGD:1314958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10472540|PMID:17576681|PMID:19299494|PMID:20071996|PMID:20490926|PMID:20648714|PMID:23062577|PMID:23430490|PMID:25741868|PMID:28492532|PMID:31028654|PMID:34649782|PMID:34820282|PMID:8990006|PMID:9536098 12413071 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9000150 Glycogen Storage Disease IIIA IAGP D RGD:12801476 20210603 OMIA Glycogen storage disease IIIa PMID:17338148|PMID:6408305|PMID:267585|PMID:181976|PMID:1066041|PMID:22736456|PMID:24509886|PMID:26884409|PMID:33348688 12413071 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9000150 Glycogen Storage Disease IIIA ISO RGD:1314958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IIIa PMID:10571954|PMID:10655153|PMID:10801050|PMID:10982190|PMID:11378828|PMID:11924557|PMID:12442284|PMID:15542399|PMID:16189622|PMID:16199547|PMID:16705713|PMID:17576681|PMID:17908927|PMID:18924225|PMID:19299494|PMID:19834502|PMID:19951465|PMID:20071996|PMID:20490926|PMID:20648714|PMID:21691223|PMID:22089644|PMID:22899091|PMID:23062577|PMID:23207808|PMID:23430490|PMID:25388549|PMID:25525159|PMID:25602008|PMID:25741868|PMID:25827695|PMID:26913919|PMID:26984562|PMID:27460348|PMID:28492532|PMID:29614965|PMID:31319225|PMID:32772503|PMID:8702417|PMID:8990006|PMID:9412782|PMID:9490286|PMID:9536098 12413071 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12413071 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9002814 Glycogen Storage Disease IIIC ISO RGD:1314958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IIIc PMID:19299494|PMID:19834502 12413071 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9004482 Glycogen Storage Disease IIIB ISO RGD:1314958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IIIb PMID:10655153|PMID:10801050|PMID:10925384|PMID:11924557|PMID:17196294|PMID:17576681|PMID:19299494|PMID:20071996|PMID:20490926|PMID:20526204|PMID:20648714|PMID:22089644|PMID:23430490|PMID:25741868|PMID:25827695|PMID:26984562|PMID:28492532|PMID:32222031|PMID:8755644|PMID:9490286|PMID:9536098 12413071 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1306376 D RGD:9068941 20200609 RGD PMID:9281456|REF_RGD_ID:1598779 12413071 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9008858 Arthrogryposis, Impaired Intellectual Development, and Seizures ISO RGD:1314958 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome PMID:24031089|PMID:28328131|PMID:28492532 12413071 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9269 maple syrup urine disease ISO RGD:1314958 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 12413120 GALNT16 polypeptide N-acetylgalactosaminyltransferase 16 gene DOID:630 genetic disease ISO RGD:1320965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413120 GALNT16 polypeptide N-acetylgalactosaminyltransferase 16 gene DOID:9008939 Breast Neoplasms ISO RGD:1320965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12413150 TNFAIP2 TNF alpha induced protein 2 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1312234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12413150 TNFAIP2 TNF alpha induced protein 2 gene DOID:630 genetic disease ISO RGD:1312234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413150 TNFAIP2 TNF alpha induced protein 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1312234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 12413150 TNFAIP2 TNF alpha induced protein 2 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1312234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 12413167 HEATR6 HEAT repeat containing 6 gene DOID:0050777 Joubert syndrome ISO RGD:1606785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12413167 HEATR6 HEAT repeat containing 6 gene DOID:11372 megacolon ISO RGD:1606785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12413167 HEATR6 HEAT repeat containing 6 gene DOID:630 genetic disease ISO RGD:1606785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413204 MED22 mediator complex subunit 22 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12413204 MED22 mediator complex subunit 22 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1606332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12413204 MED22 mediator complex subunit 22 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1606332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12413204 MED22 mediator complex subunit 22 gene DOID:0081097 Rafiq syndrome ISO RGD:1606332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12413204 MED22 mediator complex subunit 22 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1606332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12413204 MED22 mediator complex subunit 22 gene DOID:3652 Leigh disease ISO RGD:1606332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12413204 MED22 mediator complex subunit 22 gene DOID:630 genetic disease ISO RGD:1606332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413217 SUN3 Sad1 and UNC84 domain containing 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12413217 SUN3 Sad1 and UNC84 domain containing 3 gene DOID:630 genetic disease ISO RGD:1352324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413231 OXLD1 oxidoreductase like domain containing 1 gene DOID:630 genetic disease ISO RGD:2290031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413237 HGS hepatocyte growth factor-regulated tyrosine kinase substrate gene DOID:630 genetic disease ISO RGD:733649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413272 CAV3 caveolin 3 gene DOID:0050700 cardiomyopathy ISO RGD:1344208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:09536092|PMID:11251997|PMID:11884389|PMID:14672715|PMID:15099591|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17897828|PMID:18253147|PMID:18509671|PMID:19380584|PMID:19773168|PMID:22245016|PMID:22378279|PMID:22581547|PMID:22584458|PMID:22595201|PMID:23465283|PMID:23631430|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:24917393|PMID:25351510|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26404900|PMID:26467025|PMID:26498160|PMID:27066573|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27772553|PMID:27854218|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28810874|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30704477|PMID:30847666|PMID:31043699|PMID:31638414|PMID:31737537|PMID:9536092 12413272 CAV3 caveolin 3 gene DOID:0060255 rippling muscle disease 2 ISO RGD:1344208 D RGD:7240710 20180130 OMIM 12413272 CAV3 caveolin 3 gene DOID:0060255 rippling muscle disease 2 ISO RGD:1344208 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Caveolinopathy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1C | ClinVar Annotator: match by term: Rippling muscle disease 2 | ClinVar Annotator: match by term: Rippling muscle disease 2, autosomal recessive PMID:09536092|PMID:09537420|PMID:10227634|PMID:10464299|PMID:10746614|PMID:11001938|PMID:11251997|PMID:11353417|PMID:11431690|PMID:1146501|PMID:11756609|PMID:11805270|PMID:11884389|PMID:12269726|PMID:12557291|PMID:12666119|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14600260|PMID:14633633|PMID:14663034|PMID:14672715|PMID:15318349|PMID:15564037|PMID:15580566|PMID:15668980|PMID:16247063|PMID:16723230|PMID:16730439|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17556197|PMID:17576681|PMID:17897828|PMID:17994539|PMID:18253147|PMID:18509671|PMID:18583131|PMID:18930476|PMID:19380584|PMID:19697367|PMID:19773168|PMID:19835634|PMID:20229577|PMID:20472890|PMID:21294223|PMID:21404291|PMID:21610159|PMID:21660982|PMID:22245016|PMID:22378279|PMID:22584458|PMID:22595201|PMID:22976939|PMID:23465283|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:25351510|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26185955|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26947586|PMID:2705900|PMID:27184587|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27854218|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28807458|PMID:28837624|PMID:28877744|PMID:28898996|PMID:28981925|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30174172|PMID:30704477|PMID:30723005|PMID:30847666|PMID:31036801|PMID:31043699|PMID:31638414|PMID:32419263|PMID:32528171|PMID:9536092|PMID:9536098|PMID:9537420 12413272 CAV3 caveolin 3 gene DOID:0070308 rippling muscle disease 1 ISO RGD:1344208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11431690|PMID:15668980|PMID:16247063|PMID:21294223|PMID:30055862 12413272 CAV3 caveolin 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1344208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:14672715|PMID:15580566 12413272 CAV3 caveolin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1344208 D RGD:7240710 20180130 OMIM 12413272 CAV3 caveolin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1344208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:09536092|PMID:11251997|PMID:11884389|PMID:15580566|PMID:17060380|PMID:17210839|PMID:18509671|PMID:19380584|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26467025|PMID:26498160|PMID:27483260|PMID:27930701|PMID:28492532|PMID:29961767|PMID:9536092 12413272 CAV3 caveolin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1344208 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:09536092|PMID:10227634|PMID:10746614|PMID:11251997|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:11884389|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:16730439|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17576681|PMID:17897828|PMID:18509671|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21294223|PMID:21404291|PMID:21610159|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26185955|PMID:26467025|PMID:26498160|PMID:27483260|PMID:27930701|PMID:28492532|PMID:28837624|PMID:28981925|PMID:29961767|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801|PMID:9536092|PMID:9536098 12413272 CAV3 caveolin 3 gene DOID:0110644 long QT syndrome 1 ISO RGD:1344208 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:09536092|PMID:11251997|PMID:11884389|PMID:14672715|PMID:15318349|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17556197|PMID:18253147|PMID:18509671|PMID:19380584|PMID:19773168|PMID:22245016|PMID:22378279|PMID:22584458|PMID:22595201|PMID:23465283|PMID:23631430|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:24917393|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26467025|PMID:26498160|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28810874|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30704477|PMID:30847666|PMID:31043699|PMID:31737537|PMID:9536092 12413272 CAV3 caveolin 3 gene DOID:0110650 long QT syndrome 9 ISO RGD:1344208 D RGD:7240710 20180130 OMIM 12413272 CAV3 caveolin 3 gene DOID:0110650 long QT syndrome 9 ISO RGD:1344208 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 9 | ClinVar Annotator: match by term: Long QT syndrome 9, acquired, susceptibility to PMID:09536092|PMID:10227634|PMID:10746614|PMID:11251997|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:11884389|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:16730439|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17576681|PMID:17897828|PMID:18253147|PMID:18509671|PMID:18583131|PMID:18606002|PMID:18930476|PMID:19380584|PMID:19773168|PMID:20472890|PMID:21294223|PMID:21404291|PMID:21610159|PMID:22245016|PMID:22378279|PMID:22584458|PMID:22595201|PMID:23465283|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26185955|PMID:26467025|PMID:26498160|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28837624|PMID:28898996|PMID:28981925|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30174172|PMID:30704477|PMID:30723005|PMID:31036801|PMID:31043699|PMID:9536092|PMID:9536098 12413272 CAV3 caveolin 3 gene DOID:0111004 Joubert syndrome 9 ISO RGD:1344208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9 12413272 CAV3 caveolin 3 gene DOID:0111191 distal muscular dystrophy Tateyama type ISO RGD:1344208 D RGD:7240710 20180130 OMIM 12413272 CAV3 caveolin 3 gene DOID:0111191 distal muscular dystrophy Tateyama type ISO RGD:1344208 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal myopathy, Tateyama type PMID:09536092|PMID:10227634|PMID:10746614|PMID:11251997|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:11884389|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:16730439|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17556197|PMID:17576681|PMID:17897828|PMID:18509671|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21294223|PMID:21404291|PMID:21610159|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26185955|PMID:26467025|PMID:26498160|PMID:27061274|PMID:27483260|PMID:27930701|PMID:28492532|PMID:28837624|PMID:28981925|PMID:29961767|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801|PMID:9536092|PMID:9536098 12413272 CAV3 caveolin 3 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1344208 D RGD:7240710 20180130 OMIM 12413272 CAV3 caveolin 3 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1344208 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:09536092|PMID:10227634|PMID:10746614|PMID:11001938|PMID:11251997|PMID:11353417|PMID:11431690|PMID:1146501|PMID:11756609|PMID:11805270|PMID:11884389|PMID:12082049|PMID:12269726|PMID:12666119|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:14663034|PMID:14749532|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:16730439|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17576681|PMID:17897828|PMID:17994539|PMID:18487559|PMID:18509671|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20229577|PMID:20472890|PMID:21294223|PMID:21404291|PMID:21610159|PMID:21660982|PMID:22976939|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26185955|PMID:26467025|PMID:26498160|PMID:26947586|PMID:27483260|PMID:27930701|PMID:28492532|PMID:28807458|PMID:28837624|PMID:28877744|PMID:28981925|PMID:29961767|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801|PMID:9536092|PMID:9536098 12413272 CAV3 caveolin 3 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1344208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:09536092|PMID:11251997|PMID:11884389|PMID:14672715|PMID:15318349|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17556197|PMID:18509671|PMID:19380584|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26467025|PMID:26498160|PMID:27483260|PMID:27930701|PMID:28492532|PMID:29961767|PMID:30055862|PMID:9536092 12413272 CAV3 caveolin 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1344208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12413272 CAV3 caveolin 3 gene DOID:1682 congenital heart disease ISO RGD:1344208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21082655 12413272 CAV3 caveolin 3 gene DOID:2843 long QT syndrome ISO RGD:1344208 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:09536092|PMID:10227634|PMID:10746614|PMID:11001938|PMID:11251997|PMID:11353417|PMID:11431690|PMID:1146501|PMID:11756609|PMID:11805270|PMID:11884389|PMID:12269726|PMID:12666119|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:14647208|PMID:14672715|PMID:15099591|PMID:15318349|PMID:15564037|PMID:15580566|PMID:15668980|PMID:16723230|PMID:16730439|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17405141|PMID:17537631|PMID:17556197|PMID:17576681|PMID:17897828|PMID:17994539|PMID:18253147|PMID:18487559|PMID:18509671|PMID:18583131|PMID:18606002|PMID:18671188|PMID:18930476|PMID:19238754|PMID:19380584|PMID:19697367|PMID:19726876|PMID:19773168|PMID:20229577|PMID:20472890|PMID:21182936|PMID:21294223|PMID:21404291|PMID:21610159|PMID:21660982|PMID:22245016|PMID:22378279|PMID:22581547|PMID:22584458|PMID:22595201|PMID:22976939|PMID:23465283|PMID:23631430|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:24917393|PMID:25351510|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26132555|PMID:26159999|PMID:26185955|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26947586|PMID:27061274|PMID:27066573|PMID:27184587|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27772553|PMID:27854218|PMID:27930701|PMID:28232187|PMID:28407228|PMID:28492532|PMID:28807458|PMID:28810874|PMID:28837624|PMID:28877744|PMID:28898996|PMID:28981925|PMID:29396561|PMID:29501670|PMID:29961767|PMID:29970176|PMID:30055862|PMID:30153853|PMID:30174172|PMID:30564623|PMID:30704477|PMID:30723005|PMID:30847666|PMID:31036801|PMID:31043699|PMID:31127727|PMID:31638414|PMID:31737537|PMID:32004987|PMID:32419263|PMID:32528171|PMID:9536092|PMID:9536098|PMID:9537420 12413272 CAV3 caveolin 3 gene DOID:5844 myocardial infarction ISO RGD:2281 D RGD:9068941 20200609 RGD Protein:increased expression:cytosol PMID:12566108|REF_RGD_ID:1599542 12413272 CAV3 caveolin 3 gene DOID:5844 myocardial infarction ISO RGD:2281 D RGD:9068941 20210521 RGD mRNA, protein; increased expression; myocardium (rat) PMID:29438664|REF_RGD_ID:126925221 12413272 CAV3 caveolin 3 gene DOID:630 genetic disease ISO RGD:1344208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413272 CAV3 caveolin 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis onset ISO RGD:2281 D RGD:9068941 20200609 RGD Protein:increased expression:spinal cord, astrocyte PMID:15925413|REF_RGD_ID:1582168 12413272 CAV3 caveolin 3 gene DOID:9003129 Chromosome 3, Monosomy 3p25 ISO RGD:1344208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21082655 12413272 CAV3 caveolin 3 gene DOID:9003936 Cardiomegaly ISO RGD:1344208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19299911 12413272 CAV3 caveolin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12413272 CAV3 caveolin 3 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1344208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:14672715|PMID:15318349|PMID:17556197|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12413272 CAV3 caveolin 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1344208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18266981 12413272 CAV3 caveolin 3 gene DOID:9007 sudden infant death syndrome ISO RGD:1344208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:12666119|PMID:15580566|PMID:25741868|PMID:28492532 12413272 CAV3 caveolin 3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1344208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 12413272 CAV3 caveolin 3 gene DOID:9884 muscular dystrophy susceptibility ISO RGD:1344208 D RGD:9068941 20200609 RGD DNA:missense mutation, deletion PMID:9537420|REF_RGD_ID:1599529 12413278 LOC486445 RIMS-binding protein 3A-like gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:2291772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 12413278 LOC486445 RIMS-binding protein 3A-like gene DOID:11198 DiGeorge syndrome ISO RGD:2291772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 12413278 LOC486445 RIMS-binding protein 3A-like gene DOID:630 genetic disease ISO RGD:2291772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413283 SFXN3 sideroflexin 3 gene DOID:630 genetic disease ISO RGD:1345797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413283 SFXN3 sideroflexin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12413298 ZBTB8A zinc finger and BTB domain containing 8A gene DOID:630 genetic disease ISO RGD:1318711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413314 SMAD6 SMAD family member 6 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1312880 D RGD:9068941 20220624 RGD mRNA:decreased expression:blood plasma (human) PMID:31874165|REF_RGD_ID:152995482 12413314 SMAD6 SMAD family member 6 gene DOID:0070237 Loeys-Dietz syndrome 3 ISO RGD:1312880 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 PMID:28492532|PMID:30796334 12413314 SMAD6 SMAD family member 6 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1312880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve PMID:25741868|PMID:28492532 12413314 SMAD6 SMAD family member 6 gene DOID:0080333 aortic valve disease 1 ISO RGD:1312880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic valve disease 1 PMID:28492532|PMID:30796334 12413314 SMAD6 SMAD family member 6 gene DOID:0080334 aortic valve disease 2 ISO RGD:1312880 D RGD:7240710 20230517 OMIM 12413314 SMAD6 SMAD family member 6 gene DOID:0080334 aortic valve disease 2 ISO RGD:1312880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic valve disease 2 PMID:16199547|PMID:17576681|PMID:22275001|PMID:25741868|PMID:27606499|PMID:28492532|PMID:28659821|PMID:28808027|PMID:30056620|PMID:30796334|PMID:30848080|PMID:31138930|PMID:32005695|PMID:32499606|PMID:9536098 12413314 SMAD6 SMAD family member 6 gene DOID:0111004 Joubert syndrome 9 ISO RGD:1312880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9 12413314 SMAD6 SMAD family member 6 gene DOID:10952 nephritis ISO RGD:1305069 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:11170839|REF_RGD_ID:2315074 12413314 SMAD6 SMAD family member 6 gene DOID:1148 polydactyly ISO RGD:1312880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 12413314 SMAD6 SMAD family member 6 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1312880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532|PMID:32748548 12413314 SMAD6 SMAD family member 6 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1312880 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12413314 SMAD6 SMAD family member 6 gene DOID:2340 craniosynostosis ISO RGD:1312880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12413314 SMAD6 SMAD family member 6 gene DOID:2717 Bloom syndrome ISO RGD:1312880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12413314 SMAD6 SMAD family member 6 gene DOID:630 genetic disease ISO RGD:1312880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11739411|PMID:25741868|PMID:27606499|PMID:28492532|PMID:30796334|PMID:30848080 12413314 SMAD6 SMAD family member 6 gene DOID:6432 pulmonary hypertension ISO RGD:1305069 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:17347486|REF_RGD_ID:1643222 12413314 SMAD6 SMAD family member 6 gene DOID:9000082 Craniosynostosis 7 ISO RGD:1312880 D RGD:7240710 20230517 OMIM 12413314 SMAD6 SMAD family member 6 gene DOID:9000082 Craniosynostosis 7 ISO RGD:1312880 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Craniosynostosis 7 PMID:22275001|PMID:25741868|PMID:27606499|PMID:28492532|PMID:28808027|PMID:32499606 12413314 SMAD6 SMAD family member 6 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1305069 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17437042|REF_RGD_ID:2289036 12413314 SMAD6 SMAD family member 6 gene DOID:9002589 Bone Fractures ISO RGD:1305069 D RGD:9068941 20200609 RGD PMID:11920662|REF_RGD_ID:724455 12413314 SMAD6 SMAD family member 6 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1312880 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:11078792|REF_RGD_ID:2300008 12413314 SMAD6 SMAD family member 6 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1312880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 12413314 SMAD6 SMAD family member 6 gene DOID:9256 colorectal cancer ISO RGD:1312880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12413314 SMAD6 SMAD family member 6 gene DOID:9827 radioulnar synostosis ISO RGD:1312880 D RGD:7240710 20230517 OMIM 12413314 SMAD6 SMAD family member 6 gene DOID:9827 radioulnar synostosis ISO RGD:1312880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Radioulnar synostosis | ClinVar Annotator: match by term: Radioulnar synostosis, nonsyndromic, susceptibility to PMID:25741868|PMID:27606499|PMID:28492532|PMID:28808027|PMID:30796334|PMID:30848080|PMID:31138930|PMID:32748548 12413322 LYSMD3 LysM domain containing 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606178 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12413322 LYSMD3 LysM domain containing 3 gene DOID:630 genetic disease ISO RGD:1606178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413322 LYSMD3 LysM domain containing 3 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1606178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 12413322 LYSMD3 LysM domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12413322 LYSMD3 LysM domain containing 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606178 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12413332 FAM89A family with sequence similarity 89 member A gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1602405 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 12413332 FAM89A family with sequence similarity 89 member A gene DOID:0080600 COVID-19 ISO RGD:1602405 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12413332 FAM89A family with sequence similarity 89 member A gene DOID:1540 parathyroid carcinoma ISO RGD:1602405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12413332 FAM89A family with sequence similarity 89 member A gene DOID:630 genetic disease ISO RGD:1602405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413332 FAM89A family with sequence similarity 89 member A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12413332 FAM89A family with sequence similarity 89 member A gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1602405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 12413332 FAM89A family with sequence similarity 89 member A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12413338 ASXL3 ASXL transcriptional regulator 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1344717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12413338 ASXL3 ASXL transcriptional regulator 3 gene DOID:0060751 familial temporal lobe epilepsy 7 ISO RGD:1344717 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 7 PMID:25741868 12413338 ASXL3 ASXL transcriptional regulator 3 gene DOID:0080893 Bainbridge-Ropers syndrome ISO RGD:1344717 D RGD:7240710 20180130 OMIM 12413338 ASXL3 ASXL transcriptional regulator 3 gene DOID:0080893 Bainbridge-Ropers syndrome ISO RGD:1344717 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bainbridge-Ropers syndrome PMID:23383720|PMID:25326635|PMID:25590979|PMID:25741868|PMID:26539891|PMID:26640146|PMID:26647312|PMID:27075689|PMID:27901041|PMID:28100473|PMID:28492532|PMID:29305346|PMID:29367179|PMID:29628764|PMID:30564305|PMID:31180560|PMID:32581362|PMID:32860008 12413338 ASXL3 ASXL transcriptional regulator 3 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1344717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 12413338 ASXL3 ASXL transcriptional regulator 3 gene DOID:1059 intellectual disability ISO RGD:1344717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:25326635|PMID:25741868|PMID:26647312|PMID:28100473|PMID:31180560 12413338 ASXL3 ASXL transcriptional regulator 3 gene DOID:1826 epilepsy ISO RGD:1344717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 12413338 ASXL3 ASXL transcriptional regulator 3 gene DOID:630 genetic disease ISO RGD:1344717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23383720|PMID:25326635|PMID:25741868|PMID:26647312|PMID:28100473|PMID:29628764|PMID:31180560 12413338 ASXL3 ASXL transcriptional regulator 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 12413338 ASXL3 ASXL transcriptional regulator 3 gene DOID:9005603 Muscle Hypotonia ISO RGD:1344717 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:32581362 12413338 ASXL3 ASXL transcriptional regulator 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1344717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12413338 ASXL3 ASXL transcriptional regulator 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1344717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 12413355 CD2 CD2 molecule gene DOID:0060903 thrombosis ISO RGD:10305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16932337 12413355 CD2 CD2 molecule gene DOID:10283 prostate cancer ISO RGD:10305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12413355 CD2 CD2 molecule gene DOID:1184 nephrotic syndrome ISO RGD:10305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2465858 12413355 CD2 CD2 molecule gene DOID:630 genetic disease ISO RGD:10305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413355 CD2 CD2 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:10305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 12413364 SHMT2 serine hydroxymethyltransferase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1318437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26482881 12413364 SHMT2 serine hydroxymethyltransferase 2 gene DOID:630 genetic disease ISO RGD:1318437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413364 SHMT2 serine hydroxymethyltransferase 2 gene DOID:6846 familial melanoma ISO RGD:1318437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 12413364 SHMT2 serine hydroxymethyltransferase 2 gene DOID:9001963 NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES ISO RGD:1318437 D RGD:7240710 20210120 OMIM 12413364 SHMT2 serine hydroxymethyltransferase 2 gene DOID:9001963 NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES ISO RGD:1318437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities PMID:25741868|PMID:33015733 12413364 SHMT2 serine hydroxymethyltransferase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33015733 12413383 YPEL1 yippee like 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1351763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 12413383 YPEL1 yippee like 1 gene DOID:0080600 COVID-19 ISO RGD:1351763 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12413383 YPEL1 yippee like 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1351763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 12413400 LOC609023 natural cytotoxicity triggering receptor 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1342633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12413400 LOC609023 natural cytotoxicity triggering receptor 2 gene DOID:630 genetic disease ISO RGD:1342633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413400 LOC609023 natural cytotoxicity triggering receptor 2 gene DOID:905 Zellweger syndrome ISO RGD:1342633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12413408 LOC609833 T-complex protein 11 X-linked protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:7243979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12413408 LOC609833 T-complex protein 11 X-linked protein 2 gene DOID:12849 autistic disorder ISO RGD:7243979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12413420 ATG10 autophagy related 10 gene DOID:630 genetic disease ISO RGD:1351458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413420 ATG10 autophagy related 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12413420 ATG10 autophagy related 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1351458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12413456 CGAS cyclic GMP-AMP synthase gene DOID:3659 sialuria ISO RGD:1353865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 12413456 CGAS cyclic GMP-AMP synthase gene DOID:630 genetic disease ISO RGD:1353865 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413466 WDR89 WD repeat domain 89 gene DOID:630 genetic disease ISO RGD:1316567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413593 RPS8 ribosomal protein S8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12413593 RPS8 ribosomal protein S8 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12413593 RPS8 ribosomal protein S8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12413593 RPS8 ribosomal protein S8 gene DOID:14330 Parkinson's disease ISO RGD:731589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18353766 12413593 RPS8 ribosomal protein S8 gene DOID:630 genetic disease ISO RGD:731589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413593 RPS8 ribosomal protein S8 gene DOID:9004657 Weight Gain ISO RGD:731589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12413593 RPS8 ribosomal protein S8 gene DOID:9008939 Breast Neoplasms ISO RGD:731589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12413603 DQX1 DEAQ-box RNA dependent ATPase 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1312375 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12413603 DQX1 DEAQ-box RNA dependent ATPase 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1312375 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12413603 DQX1 DEAQ-box RNA dependent ATPase 1 gene DOID:543 dystonia ISO RGD:1312375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12413603 DQX1 DEAQ-box RNA dependent ATPase 1 gene DOID:630 genetic disease ISO RGD:1312375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413603 DQX1 DEAQ-box RNA dependent ATPase 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1312375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12413626 CUTC cutC copper transporter gene DOID:3652 Leigh disease ISO RGD:1312713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome 12413626 CUTC cutC copper transporter gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1312713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease 12413626 CUTC cutC copper transporter gene DOID:630 genetic disease ISO RGD:1312713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413651 PAK1IP1 PAK1 interacting protein 1 gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:1353310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 13 with adult I phenotype PMID:28492532 12413651 PAK1IP1 PAK1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1353310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413665 CZIB CXXC motif containing zinc binding protein gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:1603028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency 12413681 PDPK1 3-phosphoinositide dependent protein kinase 1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:732664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21173233 12413681 PDPK1 3-phosphoinositide dependent protein kinase 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:732664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12413681 PDPK1 3-phosphoinositide dependent protein kinase 1 gene DOID:10283 prostate cancer treatment ISO RGD:732664 D RGD:9068941 20200609 RGD PMID:26294745|REF_RGD_ID:11534031 12413681 PDPK1 3-phosphoinositide dependent protein kinase 1 gene DOID:1826 epilepsy ISO RGD:732664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12413681 PDPK1 3-phosphoinositide dependent protein kinase 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:732664 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12413681 PDPK1 3-phosphoinositide dependent protein kinase 1 gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:732665 D RGD:9068941 20200609 RGD PMID:17562488|REF_RGD_ID:13506808 12413681 PDPK1 3-phosphoinositide dependent protein kinase 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732664 D RGD:9068941 20200609 RGD mRNA:increased expression:blood serum PMID:25064732|REF_RGD_ID:13503320 12413681 PDPK1 3-phosphoinositide dependent protein kinase 1 gene DOID:6000 congestive heart failure ISO RGD:732664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19429709 12413681 PDPK1 3-phosphoinositide dependent protein kinase 1 gene DOID:630 genetic disease ISO RGD:732664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413681 PDPK1 3-phosphoinositide dependent protein kinase 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:732664 D RGD:9068941 20200609 RGD associated with non-small cell lung carcinoma;mRNA:increased expression:blood serum PMID:25064732|REF_RGD_ID:13503320 12413681 PDPK1 3-phosphoinositide dependent protein kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24739482 12413709 NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1321883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868 12413709 NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1321883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 12413709 NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1321883 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12413709 NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:0112139 nuclear type mitochondrial complex I deficiency 35 ISO RGD:1321883 D RGD:7240710 20200930 OMIM 12413709 NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:0112139 nuclear type mitochondrial complex I deficiency 35 ISO RGD:1321883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35 PMID:28040730 12413709 NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:1826 epilepsy ISO RGD:1321883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12413709 NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1321883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12413709 NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:630 genetic disease ISO RGD:1321883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12413717 DMPK DM1 protein kinase gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1320371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 12413717 DMPK DM1 protein kinase gene DOID:11722 myotonic dystrophy type 1 ISO RGD:1320371 D RGD:7240710 20180130 OMIM 12413717 DMPK DM1 protein kinase gene DOID:11722 myotonic dystrophy type 1 ISO RGD:1320371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myotonia atrophica | ClinVar Annotator: match by term: Steinert myotonic dystrophy syndrome PMID:18414213|PMID:25637381|PMID:25741868 12413717 DMPK DM1 protein kinase gene DOID:3490 Noonan syndrome ISO RGD:1320371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 12413717 DMPK DM1 protein kinase gene DOID:450 myotonic disease ISO RGD:1320371 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:24039817|PMID:27030674 12413717 DMPK DM1 protein kinase gene DOID:630 genetic disease ISO RGD:1320371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12413717 DMPK DM1 protein kinase gene DOID:9008993 Myotonia ISO RGD:1320371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039817 12413755 ANKRD24 ankyrin repeat domain 24 gene DOID:13938 amenorrhea ISO RGD:1322819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12413755 ANKRD24 ankyrin repeat domain 24 gene DOID:630 genetic disease ISO RGD:1322819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413776 OR52B2 olfactory receptor family 52 subfamily B member 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1347309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12413776 OR52B2 olfactory receptor family 52 subfamily B member 2 gene DOID:630 genetic disease ISO RGD:1347309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413779 FOXA2 forkhead box A2 gene DOID:2018 hyperinsulinism ISO RGD:10719 D RGD:9068941 20200609 RGD PMID:11445544|REF_RGD_ID:2313243 12413779 FOXA2 forkhead box A2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605726 D RGD:9068941 20220407 RGD mRNA:decreased expression:lung PMID:26658322|REF_RGD_ID:11554787 12413779 FOXA2 forkhead box A2 gene DOID:630 genetic disease ISO RGD:1605726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12413779 FOXA2 forkhead box A2 gene DOID:850 lung disease ISO RGD:1605726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16863852 12413779 FOXA2 forkhead box A2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12413779 FOXA2 forkhead box A2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2808 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney cortex PMID:19433262|REF_RGD_ID:2312358 12413779 FOXA2 forkhead box A2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:1605726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16863852 12413779 FOXA2 forkhead box A2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1605726 D RGD:9068941 20200609 RGD DNA:SNP, repeat: :rs1055080 (human) PMID:18797817|REF_RGD_ID:2313242 12413779 FOXA2 forkhead box A2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1605726 D RGD:9068941 20200609 RGD DNA:missense mutation:p.A86T (human) PMID:11043867|REF_RGD_ID:2313245 12413779 FOXA2 forkhead box A2 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1605726 D RGD:9068941 20200609 RGD DNA:transversion, transitions:promoter, exon:multiple PMID:10868949|REF_RGD_ID:2313246 12413779 FOXA2 forkhead box A2 gene DOID:9970 obesity ISO RGD:10719 D RGD:9068941 20200609 RGD PMID:12865419|REF_RGD_ID:1627574 12413789 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:0060041 autism spectrum disorder ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12413789 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1318899 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12413789 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1318899 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12413789 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:10283 prostate cancer ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12413789 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:1059 intellectual disability ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12413789 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:11198 DiGeorge syndrome ISO RGD:1318899 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12413789 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:11372 megacolon ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12413789 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:12583 velocardiofacial syndrome ISO RGD:1318899 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12413789 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:12849 autistic disorder ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12413789 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:1826 epilepsy ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12413789 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:2213 hemorrhagic disease ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 12413789 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:5419 schizophrenia ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12413789 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:612 primary immunodeficiency disease ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12413789 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:630 genetic disease ISO RGD:1318899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413789 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:9003871 Venous Thrombosis ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 12413789 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12413789 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:9007661 Dwarfism ISO RGD:1318899 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12413812 CCDC77 coiled-coil domain containing 77 gene DOID:630 genetic disease ISO RGD:1601842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413812 CCDC77 coiled-coil domain containing 77 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1601842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12413829 DPH6 diphthamine biosynthesis 6 gene DOID:2717 Bloom syndrome ISO RGD:1603188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12413829 DPH6 diphthamine biosynthesis 6 gene DOID:630 genetic disease ISO RGD:1603188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413829 DPH6 diphthamine biosynthesis 6 gene DOID:9256 colorectal cancer ISO RGD:1603188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12413842 SORD sorbitol dehydrogenase gene DOID:0050712 AGAT deficiency ISO RGD:735508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 12413842 SORD sorbitol dehydrogenase gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:735508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:32367058 12413842 SORD sorbitol dehydrogenase gene DOID:2717 Bloom syndrome ISO RGD:735508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12413842 SORD sorbitol dehydrogenase gene DOID:4661 multiple chemical sensitivity ISO RGD:735508 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic environmental intolerance PMID:25741868|PMID:32367058|PMID:32457452|PMID:33201363|PMID:33381078|PMID:33397963|PMID:33875678|PMID:34819907|PMID:8622605 12413842 SORD sorbitol dehydrogenase gene DOID:574 peripheral nervous system disease ISO RGD:735508 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:32367058|PMID:32457452|PMID:33201363|PMID:33381078|PMID:33397963|PMID:33875678|PMID:34819907|PMID:8622605 12413842 SORD sorbitol dehydrogenase gene DOID:630 genetic disease ISO RGD:735508 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32367058|PMID:32457452|PMID:33201363|PMID:33381078|PMID:33397963|PMID:33875678|PMID:34819907|PMID:8622605 12413842 SORD sorbitol dehydrogenase gene DOID:83 cataract ISO RGD:11332 D RGD:9068941 20220825 MouseDO OMIM:601371 12413842 SORD sorbitol dehydrogenase gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 12413842 SORD sorbitol dehydrogenase gene DOID:870 neuropathy ISO RGD:735508 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:32367058|PMID:32457452|PMID:33201363|PMID:33381078|PMID:33397963|PMID:33875678|PMID:34819907|PMID:8622605 12413842 SORD sorbitol dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3734 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:15064821|REF_RGD_ID:1601360 12413842 SORD sorbitol dehydrogenase gene DOID:9006739 Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy ISO RGD:735508 D RGD:7240710 20200916 OMIM 12413842 SORD sorbitol dehydrogenase gene DOID:9006739 Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy ISO RGD:735508 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Sorbitol dehydrogenase deficiency with peripheral neuropathy PMID:25741868|PMID:32367058|PMID:32457452|PMID:33201363|PMID:33381078|PMID:33397963|PMID:33875678|PMID:34819907|PMID:8622605 12413842 SORD sorbitol dehydrogenase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12763371 12413842 SORD sorbitol dehydrogenase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3734 D RGD:9068941 20200609 RGD protein:increased activity:heart PMID:14525943|REF_RGD_ID:1601364 12413842 SORD sorbitol dehydrogenase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18549825 12413842 SORD sorbitol dehydrogenase gene DOID:9256 colorectal cancer ISO RGD:735508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12413842 SORD sorbitol dehydrogenase gene DOID:9743 diabetic neuropathy resistance ISO RGD:3734 D RGD:9068941 20200609 RGD PMID:15755558|REF_RGD_ID:1601362 12413855 CD276 CD276 molecule gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604282 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12413855 CD276 CD276 molecule gene DOID:2717 Bloom syndrome ISO RGD:1604282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12413855 CD276 CD276 molecule gene DOID:2843 long QT syndrome ISO RGD:1604282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12413855 CD276 CD276 molecule gene DOID:3320 Tay-Sachs disease ISO RGD:1604282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 12413855 CD276 CD276 molecule gene DOID:5419 schizophrenia ISO RGD:1604282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12413855 CD276 CD276 molecule gene DOID:630 genetic disease ISO RGD:1604282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413855 CD276 CD276 molecule gene DOID:684 hepatocellular carcinoma ISO RGD:1604282 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16217749 12413855 CD276 CD276 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604282 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12413855 CD276 CD276 molecule gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604282 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30614027 12413855 CD276 CD276 molecule gene DOID:9256 colorectal cancer ISO RGD:1604282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12413869 CSTA cystatin A gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1320029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:11807402|PMID:20798521|PMID:28492532 12413869 CSTA cystatin A gene DOID:3068 glioblastoma ISO RGD:1320029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22287159 12413869 CSTA cystatin A gene DOID:630 genetic disease ISO RGD:1320029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413869 CSTA cystatin A gene DOID:9000918 Disease Progression ISO RGD:1320029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20461718|PMID:22287159 12413869 CSTA cystatin A gene DOID:9000965 Neoplasm Metastasis ISO RGD:1320029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20461718 12413869 CSTA cystatin A gene DOID:9007796 Peeling Skin Syndrome 4 ISO RGD:1320029 D RGD:7240710 20180130 OMIM 12413869 CSTA cystatin A gene DOID:9007796 Peeling Skin Syndrome 4 ISO RGD:1320029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peeling skin syndrome 4 PMID:12890214|PMID:21944047|PMID:22066523|PMID:23534700|PMID:25400170 12413869 CSTA cystatin A gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1320029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12413869 CSTA cystatin A gene DOID:9270 alkaptonuria ISO RGD:1320029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12413876 SRPRA SRP receptor subunit alpha gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:1322997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 12413876 SRPRA SRP receptor subunit alpha gene DOID:0110877 holoprosencephaly 11 ISO RGD:1322997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12413876 SRPRA SRP receptor subunit alpha gene DOID:0111723 Jacobsen Syndrome ISO RGD:1322997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12413876 SRPRA SRP receptor subunit alpha gene DOID:5419 schizophrenia ISO RGD:1322997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12413876 SRPRA SRP receptor subunit alpha gene DOID:630 genetic disease ISO RGD:1322997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413876 SRPRA SRP receptor subunit alpha gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12413876 SRPRA SRP receptor subunit alpha gene DOID:9007661 Dwarfism ISO RGD:1322997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12413895 CRYBA1 crystallin beta A1 gene DOID:0110014 age related macular degeneration 1 ISO RGD:736651 D RGD:9068941 20220825 MouseDO OMIM:603075 12413895 CRYBA1 crystallin beta A1 gene DOID:0110258 cataract 10 multiple types ISO RGD:736650 D RGD:7240710 20180130 OMIM 12413895 CRYBA1 crystallin beta A1 gene DOID:0110258 cataract 10 multiple types ISO RGD:736650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 10 multiple types PMID:11006214|PMID:14598164|PMID:14693780|PMID:16199547|PMID:17576681|PMID:20142846|PMID:21139983|PMID:21850182|PMID:21866213|PMID:22919269|PMID:24281366|PMID:25741868|PMID:26851658|PMID:28492532|PMID:9536098|PMID:9788845 12413895 CRYBA1 crystallin beta A1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:736650 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 12413895 CRYBA1 crystallin beta A1 gene DOID:10629 microphthalmia ISO RGD:2415 D RGD:9068941 20210521 RGD PMID:15721615|REF_RGD_ID:126925760 12413895 CRYBA1 crystallin beta A1 gene DOID:5327 retinal detachment ISO RGD:2415 D RGD:9068941 20200918 RGD PMID:26303524|REF_RGD_ID:38676460 12413895 CRYBA1 crystallin beta A1 gene DOID:630 genetic disease ISO RGD:736650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11006214|PMID:14693780|PMID:21139983|PMID:21866213|PMID:22919269|PMID:25741868|PMID:26851658|PMID:28492532|PMID:9788845 12413895 CRYBA1 crystallin beta A1 gene DOID:83 cataract ISO RGD:2415 D RGD:9068941 20210521 RGD PMID:15721615|PMID:17931883|REF_RGD_ID:126925760|REF_RGD_ID:2303652 12413895 CRYBA1 crystallin beta A1 gene DOID:83 cataract ISO RGD:736650 D RGD:9068941 20200609 RGD DNA:splice-site mutation:intron:IVS3+1G>A(human) PMID:20142846|REF_RGD_ID:10059642 12413895 CRYBA1 crystallin beta A1 gene DOID:83 cataract ISO RGD:736650 D RGD:9068941 20200609 RGD DNA:splice-site mutation:intron:IVS3+1G>T(human) PMID:21850182|REF_RGD_ID:10059641 12413895 CRYBA1 crystallin beta A1 gene DOID:83 cataract ISO RGD:736650 D RGD:9068941 20200609 RGD DNA:splice-site mutation:intron:c.215+1G>A (human) PMID:22919269|REF_RGD_ID:10059634 12413895 CRYBA1 crystallin beta A1 gene DOID:83 cataract ISO RGD:736650 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;mRNA,protein:increased expression:lens: PMID:24520233|REF_RGD_ID:10059653 12413895 CRYBA1 crystallin beta A1 gene DOID:9005232 Reticular Dystrophy of Retinal Pigment Epithelium ISO RGD:2415 D RGD:9068941 20210521 RGD mRNA:increased expression:retinal pigmented epithelium (rat) PMID:21266465|REF_RGD_ID:126925759 12413895 CRYBA1 crystallin beta A1 gene DOID:9008035 Cataract, Autosomal Dominant Nuclear ISO RGD:736650 D RGD:9068941 20200609 RGD DNA:splice-site mutaion:intron: IVS3+2 T>G (human) PMID:22665976|REF_RGD_ID:10059638 12413895 CRYBA1 crystallin beta A1 gene DOID:9282 ocular hypertension ISO RGD:2415 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:17102796|REF_RGD_ID:1601004 12413906 COLGALT2 collagen beta(1-O)galactosyltransferase 2 gene DOID:0080600 COVID-19 ISO RGD:1602008 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12413906 COLGALT2 collagen beta(1-O)galactosyltransferase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1602008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12413906 COLGALT2 collagen beta(1-O)galactosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1602008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413906 COLGALT2 collagen beta(1-O)galactosyltransferase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12413932 SOX15 SRY-box transcription factor 15 gene DOID:0060224 atrial fibrillation ISO RGD:1323788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12413932 SOX15 SRY-box transcription factor 15 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1323788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12413932 SOX15 SRY-box transcription factor 15 gene DOID:0080558 congenital disorder of glycosylation If ISO RGD:1323788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1F 12413932 SOX15 SRY-box transcription factor 15 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1323788 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12413932 SOX15 SRY-box transcription factor 15 gene DOID:11612 polycystic ovary syndrome ISO RGD:1323788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12413932 SOX15 SRY-box transcription factor 15 gene DOID:12177 common variable immunodeficiency ISO RGD:1323788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12413932 SOX15 SRY-box transcription factor 15 gene DOID:2729 dyskeratosis congenita ISO RGD:1323788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12413932 SOX15 SRY-box transcription factor 15 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1323788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12413932 SOX15 SRY-box transcription factor 15 gene DOID:630 genetic disease ISO RGD:1323788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413938 TRPV5 transient receptor potential cation channel subfamily V member 5 gene DOID:630 genetic disease ISO RGD:1350143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12413958 MIR30A microRNA mir-30a gene DOID:0060071 pre-malignant neoplasm ISO RGD:1352516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12413958 MIR30A microRNA mir-30a gene DOID:10534 stomach cancer severity ISO RGD:1352516 D RGD:9068941 20200710 RGD PMID:32116236|REF_RGD_ID:35673292 12413958 MIR30A microRNA mir-30a gene DOID:10534 stomach cancer treatment ISO RGD:1607661 D RGD:9068941 20200710 RGD PMID:32116236|REF_RGD_ID:35673292 12413958 MIR30A microRNA mir-30a gene DOID:11394 adult respiratory distress syndrome ISO RGD:1352516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12413958 MIR30A microRNA mir-30a gene DOID:1574 alcohol use disorder onset ISO RGD:2325588 D RGD:9068941 20200716 RGD PMID:32135570|REF_RGD_ID:35673317 12413958 MIR30A microRNA mir-30a gene DOID:2957 pulmonary tuberculosis disease_progression ISO RGD:1352516 D RGD:9068941 20200709 RGD PMID:25866116|REF_RGD_ID:35668864 12413958 MIR30A microRNA mir-30a gene DOID:3021 acute kidney failure ISO RGD:1352516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 12413958 MIR30A microRNA mir-30a gene DOID:3393 coronary artery disease disease_progression ISO RGD:1352516 D RGD:9068941 20230202 RGD miRNA:increased expression:blood plasma (human) PMID:25728840|REF_RGD_ID:11056497 12413958 MIR30A microRNA mir-30a gene DOID:3526 cerebral infarction treatment ISO RGD:2325588 D RGD:9068941 20200709 RGD PMID:28469772|REF_RGD_ID:35668865 12413958 MIR30A microRNA mir-30a gene DOID:3770 pulmonary fibrosis ISO RGD:1352516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 12413958 MIR30A microRNA mir-30a gene DOID:3770 pulmonary fibrosis ISO RGD:2325588 D RGD:9068941 20200710 RGD RNA:decreased expression:lung PMID:25284615|REF_RGD_ID:35673291 12413958 MIR30A microRNA mir-30a gene DOID:4989 pancreatitis ISO RGD:1352516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12413958 MIR30A microRNA mir-30a gene DOID:5082 liver cirrhosis ISO RGD:1352516 D RGD:9068941 20200710 RGD RNA:decreased expression:liver PMID:29587268|REF_RGD_ID:35673290 12413958 MIR30A microRNA mir-30a gene DOID:5844 myocardial infarction treatment ISO RGD:2325588 D RGD:9068941 20200716 RGD PMID:29849775|REF_RGD_ID:35673318 12413958 MIR30A microRNA mir-30a gene DOID:9000081 Lymphatic Metastasis ISO RGD:1352516 D RGD:9068941 20200609 RGD associated with Colorectal Neoplasms PMID:23486085|REF_RGD_ID:13432035 12413958 MIR30A microRNA mir-30a gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 12413958 MIR30A microRNA mir-30a gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2325588 D RGD:9068941 20200710 RGD PMID:29587268|REF_RGD_ID:35673290 12413958 MIR30A microRNA mir-30a gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1352516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12413958 MIR30A microRNA mir-30a gene DOID:9003936 Cardiomegaly ISO RGD:2325588 D RGD:9068941 20200609 RGD RNA:decreased expression:heart left ventricle PMID:23326547|REF_RGD_ID:11561904 12413958 MIR30A microRNA mir-30a gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1352516 D RGD:9068941 20200609 RGD PMID:23326547|REF_RGD_ID:11561904 12413958 MIR30A microRNA mir-30a gene DOID:9005172 Lung Neoplasms ISO RGD:1352516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12413958 MIR30A microRNA mir-30a gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:1352516 D RGD:9068941 20200710 RGD RNA:increased expression:plasma PMID:27528406|REF_RGD_ID:35673289 12413958 MIR30A microRNA mir-30a gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:2325588 D RGD:9068941 20200710 RGD RNA:increased expression:plasma PMID:27528406|REF_RGD_ID:35673289 12413958 MIR30A microRNA mir-30a gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424|PMID:25359176|PMID:28545106 12413958 MIR30A microRNA mir-30a gene DOID:9007787 Carcinoid Tumor ISO RGD:1352516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12413958 MIR30A microRNA mir-30a gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2325588 D RGD:9068941 20200716 RGD PMID:25137026|REF_RGD_ID:35673319 12413958 MIR30A microRNA mir-30a gene DOID:9206 Barrett's esophagus ISO RGD:1352516 D RGD:9068941 20220825 RGD miRNA:increased expression:esophagus (human) PMID:29906417|REF_RGD_ID:153344526 12413958 MIR30A microRNA mir-30a gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12414034 PRDX5 peroxiredoxin 5 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1347956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12414034 PRDX5 peroxiredoxin 5 gene DOID:10459 common cold ISO RGD:1347956 D RGD:9068941 20210205 RGD associated with asthma;protein:increased expression:sputum (human) PMID:18219526|REF_RGD_ID:41404684 12414034 PRDX5 peroxiredoxin 5 gene DOID:1059 intellectual disability ISO RGD:1347956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12414034 PRDX5 peroxiredoxin 5 gene DOID:11077 brucellosis ISO RGD:733919 D RGD:9068941 20210205 RGD mRNA:increased expression:spleen (mouse) PMID:31196623|REF_RGD_ID:41404681 12414034 PRDX5 peroxiredoxin 5 gene DOID:11335 sarcoidosis ISO RGD:1347956 D RGD:9068941 20210205 RGD protein:increased expression:alveolus of lung (human) PMID:22837380|REF_RGD_ID:41404683 12414034 PRDX5 peroxiredoxin 5 gene DOID:3070 high grade glioma ISO RGD:1347956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12414034 PRDX5 peroxiredoxin 5 gene DOID:630 genetic disease ISO RGD:1347956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414034 PRDX5 peroxiredoxin 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:1347956 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 12414034 PRDX5 peroxiredoxin 5 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1347956 D RGD:9068941 20210205 RGD mRNA:decreased expression:liver, blood (human) PMID:32103340|REF_RGD_ID:41404682 12414034 PRDX5 peroxiredoxin 5 gene DOID:986 alopecia areata ISO RGD:1347956 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20596022 12414047 ISYNA1 inositol-3-phosphate synthase 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1605077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12414047 ISYNA1 inositol-3-phosphate synthase 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1605077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12414047 ISYNA1 inositol-3-phosphate synthase 1 gene DOID:630 genetic disease ISO RGD:1605077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414047 ISYNA1 inositol-3-phosphate synthase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12414047 ISYNA1 inositol-3-phosphate synthase 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1605077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12414047 ISYNA1 inositol-3-phosphate synthase 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1605077 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12414062 TPM1 tropomyosin 1 gene DOID:0050700 cardiomyopathy ISO RGD:737098 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:11606294|PMID:11968089|PMID:12473556|PMID:14734051|PMID:15000344|PMID:16014439|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18533079|PMID:19035361|PMID:20159828|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:22958901|PMID:23204897|PMID:23674513|PMID:23700264|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24503780|PMID:24793961|PMID:25031304|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26936621|PMID:27177193|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28301460|PMID:28356264|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28790153|PMID:29024827|PMID:29121657|PMID:29192238|PMID:29517769|PMID:29760186|PMID:30165862|PMID:31270709|PMID:31513939|PMID:32880476|PMID:33495597|PMID:33673806|PMID:34008892|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 12414062 TPM1 tropomyosin 1 gene DOID:0050700 cardiomyopathy ISO RGD:737098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11606294|PMID:11968089|PMID:12473556|PMID:14734051|PMID:15000344|PMID:16014439|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18533079|PMID:19035361|PMID:20159828|PMID:20215591|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21320446|PMID:21376702|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:22958901|PMID:23147248|PMID:23204897|PMID:23283745|PMID:23674513|PMID:23700264|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24503780|PMID:24793961|PMID:25031304|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26936621|PMID:27177193|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28301460|PMID:28356264|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28790153|PMID:29024827|PMID:29121657|PMID:29192238|PMID:29517769|PMID:29760186|PMID:29907873|PMID:30165862|PMID:30240712|PMID:30297972|PMID:30847666|PMID:31270709|PMID:31513939|PMID:32880476|PMID:33495597|PMID:33673806|PMID:34008892|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 12414062 TPM1 tropomyosin 1 gene DOID:0050700 cardiomyopathy ISO RGD:737098 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11606294|PMID:11968089|PMID:12473556|PMID:12858563|PMID:12860912|PMID:14734051|PMID:15000344|PMID:16005017|PMID:16014439|PMID:16365313|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:20031602|PMID:20159828|PMID:20215591|PMID:20965760|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21551322|PMID:21835320|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:22958901|PMID:23071391|PMID:23147248|PMID:23204897|PMID:23283745|PMID:23396983|PMID:23508784|PMID:23674513|PMID:23700264|PMID:23771913|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24503780|PMID:24510615|PMID:24793961|PMID:25031304|PMID:25241052|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25389285|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26936621|PMID:26960954|PMID:27177193|PMID:27376658|PMID:27532257|PMID:27600940|PMID:27639548|PMID:28138913|PMID:28301460|PMID:28356264|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28771489|PMID:28790153|PMID:28797094|PMID:28986452|PMID:29024827|PMID:29105867|PMID:29121657|PMID:29192238|PMID:29517769|PMID:29760186|PMID:29907873|PMID:30165862|PMID:30240712|PMID:30297972|PMID:30847666|PMID:31006259|PMID:31270709|PMID:31308319|PMID:31513939|PMID:32731933|PMID:32880476|PMID:32882290|PMID:33297573|PMID:33495597|PMID:33642254|PMID:33673806|PMID:33919104|PMID:34008892|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 12414062 TPM1 tropomyosin 1 gene DOID:0060480 left ventricular noncompaction ISO RGD:737098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:22958901|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532 12414062 TPM1 tropomyosin 1 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:24033266|PMID:25741868|PMID:28492532 12414062 TPM1 tropomyosin 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11606294|PMID:11968089|PMID:12473556|PMID:12858563|PMID:12860912|PMID:14734051|PMID:15000344|PMID:15519027|PMID:16014439|PMID:16365313|PMID:16504640|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:20031602|PMID:20965760|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21551322|PMID:21835320|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:23071391|PMID:23204897|PMID:23396983|PMID:23508784|PMID:23700264|PMID:23771913|PMID:24033266|PMID:24510615|PMID:25241052|PMID:25351510|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26936621|PMID:26960954|PMID:27376658|PMID:27532257|PMID:27600940|PMID:27639548|PMID:27983818|PMID:28138913|PMID:28492532|PMID:28615295|PMID:28986452|PMID:29121657|PMID:29760186|PMID:30165862|PMID:30240712|PMID:31006259|PMID:31270709|PMID:31308319|PMID:32882290|PMID:33297573|PMID:33673806|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9440709|PMID:9822100 12414062 TPM1 tropomyosin 1 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect 1 PMID:28359939 12414062 TPM1 tropomyosin 1 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11606294|PMID:11968089|PMID:12473556|PMID:12858563|PMID:12860912|PMID:14734051|PMID:15000344|PMID:16014439|PMID:16365313|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:20031602|PMID:20965760|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21551322|PMID:21835320|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:23071391|PMID:23204897|PMID:23396983|PMID:23508784|PMID:23700264|PMID:23771913|PMID:24033266|PMID:24510615|PMID:25241052|PMID:25351510|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26936621|PMID:26960954|PMID:27376658|PMID:27532257|PMID:27600940|PMID:27639548|PMID:28138913|PMID:28492532|PMID:28615295|PMID:28790153|PMID:28986452|PMID:29121657|PMID:29760186|PMID:30165862|PMID:30240712|PMID:31006259|PMID:31270709|PMID:31308319|PMID:32882290|PMID:33297573|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9440709|PMID:9536098|PMID:9822100 12414062 TPM1 tropomyosin 1 gene DOID:0110309 hypertrophic cardiomyopathy 3 ISO RGD:737098 D RGD:7240710 20180130 OMIM 12414062 TPM1 tropomyosin 1 gene DOID:0110309 hypertrophic cardiomyopathy 3 ISO RGD:737098 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 3 PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11044437|PMID:11136687|PMID:11603924|PMID:11606294|PMID:11968089|PMID:12006676|PMID:12473556|PMID:12858563|PMID:12860912|PMID:12900417|PMID:14734051|PMID:15000344|PMID:15059934|PMID:15479242|PMID:16005017|PMID:16014439|PMID:16365313|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18409188|PMID:18414213|PMID:19035361|PMID:20031602|PMID:20117437|PMID:20161772|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21551322|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:23147248|PMID:23396983|PMID:23539503|PMID:23771913|PMID:24033266|PMID:24170035|PMID:24183960|PMID:24503780|PMID:24510615|PMID:25241052|PMID:25242052|PMID:25326635|PMID:25351510|PMID:25389285|PMID:25524337|PMID:25525159|PMID:25548289|PMID:25611685|PMID:25741868|PMID:26960954|PMID:27177193|PMID:27376658|PMID:27532257|PMID:27639548|PMID:28138913|PMID:28301460|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28600229|PMID:28603979|PMID:28615295|PMID:28771489|PMID:28797094|PMID:28986452|PMID:29024827|PMID:29105867|PMID:29398688|PMID:29496559|PMID:29517769|PMID:29540472|PMID:29760186|PMID:30022097|PMID:30165862|PMID:31006259|PMID:31270709|PMID:32731933|PMID:32880476|PMID:32882290|PMID:33297573|PMID:33495597|PMID:33642254|PMID:33919104|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:8774330|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 12414062 TPM1 tropomyosin 1 gene DOID:0110457 dilated cardiomyopathy 1Y ISO RGD:737098 D RGD:7240710 20180130 OMIM 12414062 TPM1 tropomyosin 1 gene DOID:0110457 dilated cardiomyopathy 1Y ISO RGD:737098 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1Y | ClinVar Annotator: match by term: Left ventricular noncompaction 9 PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11273725|PMID:11606294|PMID:11968089|PMID:12473556|PMID:12858563|PMID:12860912|PMID:14734051|PMID:15000344|PMID:15923195|PMID:16014439|PMID:16043485|PMID:16365313|PMID:16504640|PMID:17556658|PMID:17576681|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:19222994|PMID:19646950|PMID:20031602|PMID:20530761|PMID:20965760|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21551322|PMID:21741356|PMID:21835320|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:23071391|PMID:23077624|PMID:23204897|PMID:23396983|PMID:23508784|PMID:23539503|PMID:23700264|PMID:23771913|PMID:24033266|PMID:24183960|PMID:24503780|PMID:24510615|PMID:24691700|PMID:25241052|PMID:25326635|PMID:25351510|PMID:25389285|PMID:25520664|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26688388|PMID:26899768|PMID:26936621|PMID:26960954|PMID:27177193|PMID:27376658|PMID:27532257|PMID:27600940|PMID:27639548|PMID:27878731|PMID:28138913|PMID:28359939|PMID:28492532|PMID:28615295|PMID:28986452|PMID:29024827|PMID:29121657|PMID:29517769|PMID:29644095|PMID:29760186|PMID:30165862|PMID:30188508|PMID:30240712|PMID:30847666|PMID:31006259|PMID:31270709|PMID:31308319|PMID:32600061|PMID:32618513|PMID:32882290|PMID:33297573|PMID:33888711|PMID:34008892|PMID:34036930|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 12414062 TPM1 tropomyosin 1 gene DOID:10763 hypertension ISO RGD:737098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 12414062 TPM1 tropomyosin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11044437|PMID:11136687|PMID:11273725|PMID:11603924|PMID:11606294|PMID:11968089|PMID:12006676|PMID:12169652|PMID:12473556|PMID:12651045|PMID:12858563|PMID:12860912|PMID:12900417|PMID:14734051|PMID:15000344|PMID:15059934|PMID:15249230|PMID:15479242|PMID:15519027|PMID:15923195|PMID:16005017|PMID:16014439|PMID:16043485|PMID:16199547|PMID:16365313|PMID:16504640|PMID:17556658|PMID:17576681|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:19222994|PMID:19646950|PMID:19659763|PMID:20031602|PMID:20117437|PMID:20159828|PMID:20161772|PMID:20215591|PMID:20965760|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21483645|PMID:21551322|PMID:21642532|PMID:21741356|PMID:21835320|PMID:21839045|PMID:21840315|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:22958901|PMID:23071391|PMID:23077624|PMID:23147248|PMID:23204897|PMID:23283745|PMID:23349452|PMID:23396983|PMID:23508784|PMID:23539503|PMID:23674513|PMID:23700264|PMID:23771913|PMID:24033266|PMID:24170035|PMID:24183960|PMID:24503780|PMID:24510615|PMID:24691700|PMID:24793961|PMID:25031304|PMID:25241052|PMID:25242052|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25520664|PMID:25524337|PMID:25525159|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26025024|PMID:26688388|PMID:26873245|PMID:26899768|PMID:26936621|PMID:26960954|PMID:27177193|PMID:27376658|PMID:27532257|PMID:27600940|PMID:27639548|PMID:27878731|PMID:27983818|PMID:28138913|PMID:28301460|PMID:28356264|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28600229|PMID:28603979|PMID:28615295|PMID:28732641|PMID:28771489|PMID:28790153|PMID:28797094|PMID:28855170|PMID:28986452|PMID:29024827|PMID:29105867|PMID:29121657|PMID:29192238|PMID:29255176|PMID:29398688|PMID:29447731|PMID:29496559|PMID:29517769|PMID:29540472|PMID:29644095|PMID:29760186|PMID:29907873|PMID:30022097|PMID:30165862|PMID:30188508|PMID:30240712|PMID:30297972|PMID:30847666|PMID:30923642|PMID:31006259|PMID:31090107|PMID:31270709|PMID:31308319|PMID:31333075|PMID:31513939|PMID:31568572|PMID:31983221|PMID:32183154|PMID:32600061|PMID:32618513|PMID:32731933|PMID:32880476|PMID:32882290|PMID:33082984|PMID:33297573|PMID:33495597|PMID:33642254|PMID:33673806|PMID:33888711|PMID:33919104|PMID:34008892|PMID:34036930|PMID:34540771|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:8774330|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 12414062 TPM1 tropomyosin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11106625|PMID:18533079|PMID:20117437|PMID:20159828|PMID:20215591|PMID:20530761|PMID:21310275|PMID:21483645|PMID:23539503|PMID:23674513|PMID:24033266|PMID:25031304|PMID:25241052|PMID:25242052|PMID:25326635|PMID:25525159|PMID:25548289|PMID:25741868|PMID:26899768|PMID:27177193|PMID:27532257|PMID:28359939|PMID:28492532|PMID:28600229|PMID:28603979|PMID:29024827|PMID:29517769|PMID:31333075|PMID:31568572 12414062 TPM1 tropomyosin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:737098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11106625|PMID:18533079|PMID:20117437|PMID:20159828|PMID:20215591|PMID:20530761|PMID:21310275|PMID:21483645|PMID:23539503|PMID:23674513|PMID:24033266|PMID:24503780|PMID:25031304|PMID:25241052|PMID:25242052|PMID:25326635|PMID:25525159|PMID:25548289|PMID:25741868|PMID:26899768|PMID:27177193|PMID:27532257|PMID:28359939|PMID:28492532|PMID:28600229|PMID:28603979|PMID:29024827|PMID:29496559|PMID:29517769|PMID:30240712|PMID:30847666|PMID:31270709|PMID:31333075|PMID:31568572 12414062 TPM1 tropomyosin 1 gene DOID:2717 Bloom syndrome ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12414062 TPM1 tropomyosin 1 gene DOID:2843 long QT syndrome ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25741868 12414062 TPM1 tropomyosin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12414062 TPM1 tropomyosin 1 gene DOID:630 genetic disease ISO RGD:737098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414062 TPM1 tropomyosin 1 gene DOID:6419 tetralogy of Fallot ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:28359939 12414062 TPM1 tropomyosin 1 gene DOID:9000058 Keloid ISO RGD:737098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12414062 TPM1 tropomyosin 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:737098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 12414062 TPM1 tropomyosin 1 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572|PMID:34540771 12414062 TPM1 tropomyosin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12414062 TPM1 tropomyosin 1 gene DOID:9003604 Pulmonary Atresia with Intact Ventricular Septum ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary atresia with intact ventricular septum PMID:28359939 12414062 TPM1 tropomyosin 1 gene DOID:9005141 Ventricular Tachycardia ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Effort-induced polymorphic ventricular tachycardias 12414062 TPM1 tropomyosin 1 gene DOID:9256 colorectal cancer ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12414122 TUBB2A tubulin beta 2A class IIa gene DOID:0070338 cerebellar hypoplasia ISO RGD:1347978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:24702957|PMID:25741868|PMID:31474318 12414122 TUBB2A tubulin beta 2A class IIa gene DOID:0090135 complex cortical dysplasia with other brain malformations 5 ISO RGD:1347978 D RGD:7240710 20210113 OMIM 12414122 TUBB2A tubulin beta 2A class IIa gene DOID:0090135 complex cortical dysplasia with other brain malformations 5 ISO RGD:1347978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 5 PMID:24702957|PMID:25326637|PMID:25741868|PMID:27770045|PMID:28492532|PMID:28840640|PMID:29198720|PMID:29547997|PMID:31474318|PMID:32203252|PMID:32571897|PMID:33547136|PMID:33776625 12414122 TUBB2A tubulin beta 2A class IIa gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1347978 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 12414122 TUBB2A tubulin beta 2A class IIa gene DOID:1826 epilepsy ISO RGD:1347978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25326637|PMID:25741868|PMID:28492532 12414122 TUBB2A tubulin beta 2A class IIa gene DOID:630 genetic disease ISO RGD:1347978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24702957|PMID:25741868|PMID:27770045|PMID:28492532|PMID:28840640|PMID:29547997|PMID:32203252|PMID:32571897|PMID:33547136 12414122 TUBB2A tubulin beta 2A class IIa gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1347978 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12414122 TUBB2A tubulin beta 2A class IIa gene DOID:8725 vascular dementia ISO RGD:1347978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 12414122 TUBB2A tubulin beta 2A class IIa gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1347978 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 12414122 TUBB2A tubulin beta 2A class IIa gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12414122 TUBB2A tubulin beta 2A class IIa gene DOID:9008582 Developmental Disease ISO RGD:1347978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12414122 TUBB2A tubulin beta 2A class IIa gene DOID:9119 acute myeloid leukemia ISO RGD:1347978 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12414129 CCDC148 coiled-coil domain containing 148 gene DOID:13938 amenorrhea ISO RGD:1604533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12414129 CCDC148 coiled-coil domain containing 148 gene DOID:630 genetic disease ISO RGD:1604533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414161 PATJ PATJ crumbs cell polarity complex component gene DOID:1059 intellectual disability ISO RGD:1604056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12414161 PATJ PATJ crumbs cell polarity complex component gene DOID:303 substance-related disorder ISO RGD:1604056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12414161 PATJ PATJ crumbs cell polarity complex component gene DOID:630 genetic disease ISO RGD:1604056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414161 PATJ PATJ crumbs cell polarity complex component gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12414217 PRKCZ protein kinase C zeta gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:736361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12414217 PRKCZ protein kinase C zeta gene DOID:0060041 autism spectrum disorder ISO RGD:736361 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12414217 PRKCZ protein kinase C zeta gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12414217 PRKCZ protein kinase C zeta gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:736361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12414217 PRKCZ protein kinase C zeta gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:736361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12414217 PRKCZ protein kinase C zeta gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:736361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12414217 PRKCZ protein kinase C zeta gene DOID:0110994 Joubert syndrome 25 ISO RGD:736361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12414217 PRKCZ protein kinase C zeta gene DOID:0111934 immunodeficiency 38 ISO RGD:736361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12414217 PRKCZ protein kinase C zeta gene DOID:0111935 immunodeficiency 16 ISO RGD:736361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12414217 PRKCZ protein kinase C zeta gene DOID:1240 leukemia ISO RGD:736361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12970779 12414217 PRKCZ protein kinase C zeta gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12414217 PRKCZ protein kinase C zeta gene DOID:4195 hyperglycemia ISO RGD:3399 D RGD:9068941 20200609 RGD protein:increased threonine phosphorylation, increased activity:soleus muscle PMID:12960081|REF_RGD_ID:1642528 12414217 PRKCZ protein kinase C zeta gene DOID:630 genetic disease ISO RGD:736361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414217 PRKCZ protein kinase C zeta gene DOID:9002211 Hyperalgesia ISO RGD:736361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27899695 12414217 PRKCZ protein kinase C zeta gene DOID:9002304 Prostatic Neoplasms ISO RGD:736361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16931574 12414217 PRKCZ protein kinase C zeta gene DOID:9003936 Cardiomegaly ISO RGD:736361 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27094369 12414217 PRKCZ protein kinase C zeta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12414217 PRKCZ protein kinase C zeta gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3399 D RGD:9068941 20200609 RGD PMID:16900949|REF_RGD_ID:1581275 12414217 PRKCZ protein kinase C zeta gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:736361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12414217 PRKCZ protein kinase C zeta gene DOID:9007692 Insulin Resistance ISO RGD:736361 D RGD:9068941 20200609 RGD protein::skeletal muscle:reduced response to insulin in obese and diabetic subjects PMID:12882908|REF_RGD_ID:1642650 12414217 PRKCZ protein kinase C zeta gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:736361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12414217 PRKCZ protein kinase C zeta gene DOID:9352 type 2 diabetes mellitus ISO RGD:3399 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver,pancreas: PMID:26398746|REF_RGD_ID:13506804 12414251 WDR59 WD repeat domain 59 gene DOID:2565 macular corneal dystrophy ISO RGD:1605950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 12414251 WDR59 WD repeat domain 59 gene DOID:607 paraplegia ISO RGD:1605950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12414251 WDR59 WD repeat domain 59 gene DOID:630 genetic disease ISO RGD:1605950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414251 WDR59 WD repeat domain 59 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12414283 GPR182 G protein-coupled receptor 182 gene DOID:630 genetic disease ISO RGD:736455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414283 GPR182 G protein-coupled receptor 182 gene DOID:6432 pulmonary hypertension ISO RGD:61903 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:12622928|REF_RGD_ID:1625768 12414283 GPR182 G protein-coupled receptor 182 gene DOID:684 hepatocellular carcinoma ISO RGD:736455 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12414289 DUSP6 dual specificity phosphatase 6 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:731297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12414289 DUSP6 dual specificity phosphatase 6 gene DOID:0090090 hypogonadotropic hypogonadism 19 with or without anosmia ISO RGD:731297 D RGD:7240710 20180130 OMIM 12414289 DUSP6 dual specificity phosphatase 6 gene DOID:0090090 hypogonadotropic hypogonadism 19 with or without anosmia ISO RGD:731297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 19 with or without anosmia PMID:23643382|PMID:25741868|PMID:28492532 12414289 DUSP6 dual specificity phosphatase 6 gene DOID:11832 visual epilepsy ISO RGD:70978 D RGD:9068941 20200609 RGD PMID:8626780|REF_RGD_ID:728656 12414289 DUSP6 dual specificity phosphatase 6 gene DOID:11832 visual epilepsy ISO RGD:70978 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:15496935|REF_RGD_ID:2316089 12414289 DUSP6 dual specificity phosphatase 6 gene DOID:1612 breast cancer ISO RGD:731297 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland PMID:12618338|REF_RGD_ID:7495809 12414289 DUSP6 dual specificity phosphatase 6 gene DOID:2316 brain ischemia ISO RGD:70978 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:10908038|REF_RGD_ID:2316092 12414289 DUSP6 dual specificity phosphatase 6 gene DOID:305 carcinoma ISO RGD:731297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12414289 DUSP6 dual specificity phosphatase 6 gene DOID:3068 glioblastoma ISO RGD:731297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499306 12414289 DUSP6 dual specificity phosphatase 6 gene DOID:4989 pancreatitis ISO RGD:70978 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:11027531|REF_RGD_ID:2301725 12414289 DUSP6 dual specificity phosphatase 6 gene DOID:630 genetic disease ISO RGD:731297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12414289 DUSP6 dual specificity phosphatase 6 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12414289 DUSP6 dual specificity phosphatase 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12414289 DUSP6 dual specificity phosphatase 6 gene DOID:9002211 Hyperalgesia treatment ISO RGD:70978 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:22901764|REF_RGD_ID:7771531 12414289 DUSP6 dual specificity phosphatase 6 gene DOID:9003971 Postoperative Pain ISO RGD:731298 D RGD:9068941 20200609 RGD associated with Inflammation PMID:24155322|REF_RGD_ID:7771585 12414289 DUSP6 dual specificity phosphatase 6 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12414289 DUSP6 dual specificity phosphatase 6 gene DOID:9007102 Myocardial Ischemia ISO RGD:731297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12414289 DUSP6 dual specificity phosphatase 6 gene DOID:9065 leishmaniasis treatment ISO RGD:731298 D RGD:9068941 20200609 RGD PMID:21471446|REF_RGD_ID:7771536 12414296 MAGI3 membrane associated guanylate kinase, WW and PDZ domain containing 3 gene DOID:0080690 RASopathy ISO RGD:1605836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12414296 MAGI3 membrane associated guanylate kinase, WW and PDZ domain containing 3 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1605836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 12414296 MAGI3 membrane associated guanylate kinase, WW and PDZ domain containing 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1605836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 12414296 MAGI3 membrane associated guanylate kinase, WW and PDZ domain containing 3 gene DOID:630 genetic disease ISO RGD:1605836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414326 SLC7A11 solute carrier family 7 member 11 gene DOID:0050865 tongue squamous cell carcinoma severity ISO RGD:1319531 D RGD:9068941 20220225 RGD PMID:24762957|REF_RGD_ID:151361157 12414326 SLC7A11 solute carrier family 7 member 11 gene DOID:2223 platelet storage pool deficiency ISO RGD:1319532 D RGD:9068941 20220825 MouseDO OMIM:185050 12414326 SLC7A11 solute carrier family 7 member 11 gene DOID:2773 contact dermatitis ISO RGD:1319531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12414326 SLC7A11 solute carrier family 7 member 11 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1319532 D RGD:9068941 20220825 MouseDO 12414326 SLC7A11 solute carrier family 7 member 11 gene DOID:630 genetic disease ISO RGD:1319531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414326 SLC7A11 solute carrier family 7 member 11 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1319531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19015640 12414347 ZBTB2 zinc finger and BTB domain containing 2 gene DOID:630 genetic disease ISO RGD:1315344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414357 EZR ezrin gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1350208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 12414357 EZR ezrin gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1350208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 12414357 EZR ezrin gene DOID:305 carcinoma ISO RGD:1350208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12414357 EZR ezrin gene DOID:630 genetic disease ISO RGD:1350208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12414357 EZR ezrin gene DOID:8398 osteoarthritis ISO RGD:1350208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12414357 EZR ezrin gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1350208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12414357 EZR ezrin gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27137931 12414357 EZR ezrin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12414357 EZR ezrin gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:17566973|PMID:24763052 12414357 EZR ezrin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1350208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12414376 NBEAL2 neurobeachin like 2 gene DOID:0111044 gray platelet syndrome ISO RGD:1604049 D RGD:7240710 20211006 OMIM 12414376 NBEAL2 neurobeachin like 2 gene DOID:0111044 gray platelet syndrome ISO RGD:1604049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gray platelet syndrome PMID:21765411|PMID:21765412|PMID:21765413|PMID:25741868|PMID:28492532|PMID:31064749|PMID:32581362|PMID:32693407 12414376 NBEAL2 neurobeachin like 2 gene DOID:10126 keratoconus ISO RGD:1604049 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 12414376 NBEAL2 neurobeachin like 2 gene DOID:2213 hemorrhagic disease ISO RGD:1604049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532 12414376 NBEAL2 neurobeachin like 2 gene DOID:630 genetic disease ISO RGD:1604049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12414376 NBEAL2 neurobeachin like 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1604049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12414432 NEK11 NIMA related kinase 11 gene DOID:630 genetic disease ISO RGD:1318782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414432 NEK11 NIMA related kinase 11 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1318782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12414432 NEK11 NIMA related kinase 11 gene DOID:9270 alkaptonuria ISO RGD:1318782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12414479 PALD1 phosphatase domain containing paladin 1 gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1346451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 PMID:28492532 12414479 PALD1 phosphatase domain containing paladin 1 gene DOID:630 genetic disease ISO RGD:1346451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414479 PALD1 phosphatase domain containing paladin 1 gene DOID:9008288 Visceral Heterotaxy 5, Autosomal ISO RGD:1346451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal PMID:28492532 12414512 MPZL3 myelin protein zero like 3 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1601712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12414512 MPZL3 myelin protein zero like 3 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1601712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12414512 MPZL3 myelin protein zero like 3 gene DOID:0080690 RASopathy ISO RGD:1601712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12414512 MPZL3 myelin protein zero like 3 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1601712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12414512 MPZL3 myelin protein zero like 3 gene DOID:0110651 long QT syndrome 10 ISO RGD:1601712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12414512 MPZL3 myelin protein zero like 3 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1601712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12414512 MPZL3 myelin protein zero like 3 gene DOID:0111971 immunodeficiency 18 ISO RGD:1601712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12414512 MPZL3 myelin protein zero like 3 gene DOID:0111972 immunodeficiency 19 ISO RGD:1601712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12414512 MPZL3 myelin protein zero like 3 gene DOID:0111973 immunodeficiency 17 ISO RGD:1601712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12414512 MPZL3 myelin protein zero like 3 gene DOID:1059 intellectual disability ISO RGD:1601712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12414512 MPZL3 myelin protein zero like 3 gene DOID:1324 lung cancer ISO RGD:1601712 D RGD:9068941 20220721 RGD DNA:SNP:UTR3:rs11216826 (human) PMID:29193083|REF_RGD_ID:153297750 12414512 MPZL3 myelin protein zero like 3 gene DOID:630 genetic disease ISO RGD:1601712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414512 MPZL3 myelin protein zero like 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1601712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12414512 MPZL3 myelin protein zero like 3 gene DOID:9007661 Dwarfism ISO RGD:1601712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12414522 VMO1 vitelline membrane outer layer 1 homolog gene DOID:4450 renal cell carcinoma ISO RGD:1605251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 12414522 VMO1 vitelline membrane outer layer 1 homolog gene DOID:630 genetic disease ISO RGD:1605251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414533 STX1B syntaxin 1B gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:736110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus 12414533 STX1B syntaxin 1B gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:736110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12414533 STX1B syntaxin 1B gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:736110 D RGD:7240710 20180130 OMIM 12414533 STX1B syntaxin 1B gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:736110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:11591834|PMID:16199547|PMID:17576681|PMID:18479394|PMID:25362483|PMID:25741868|PMID:26467025|PMID:26818399|PMID:28166811|PMID:28492532|PMID:30737342|PMID:31273778|PMID:9536098 12414533 STX1B syntaxin 1B gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736111 D RGD:9068941 20200609 RGD PMID:26604869|REF_RGD_ID:12903957 12414533 STX1B syntaxin 1B gene DOID:1826 epilepsy ISO RGD:736110 D RGD:9068941 20221208 CTD CTD Direct Evidence: marker/mechanism PMID:25362483 12414533 STX1B syntaxin 1B gene DOID:630 genetic disease ISO RGD:736110 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18691641|PMID:25362483|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30737342 12414533 STX1B syntaxin 1B gene DOID:9001793 Generalized Epilepsy ISO RGD:736110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 12414533 STX1B syntaxin 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25362483|PMID:25741868 12414533 STX1B syntaxin 1B gene DOID:9007956 Febrile Seizures ISO RGD:736110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25362483 12414548 DEGS1 delta 4-desaturase, sphingolipid 1 gene DOID:10579 leukodystrophy ISO RGD:1605117 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:25741868|PMID:30620337|PMID:31186544 12414548 DEGS1 delta 4-desaturase, sphingolipid 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1605117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12414548 DEGS1 delta 4-desaturase, sphingolipid 1 gene DOID:630 genetic disease ISO RGD:1605117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30620337 12414548 DEGS1 delta 4-desaturase, sphingolipid 1 gene DOID:9000521 Hypomyelinating Leukodystrophy 18 ISO RGD:1605117 D RGD:7240710 20190515 OMIM 12414548 DEGS1 delta 4-desaturase, sphingolipid 1 gene DOID:9000521 Hypomyelinating Leukodystrophy 18 ISO RGD:1605117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 18 PMID:25741868|PMID:30620337|PMID:30620338|PMID:31186544 12414548 DEGS1 delta 4-desaturase, sphingolipid 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12414548 DEGS1 delta 4-desaturase, sphingolipid 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12414556 MCCD1 mitochondrial coiled-coil domain 1 gene DOID:0050553 JMP syndrome ISO RGD:1352481 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12414556 MCCD1 mitochondrial coiled-coil domain 1 gene DOID:11372 megacolon ISO RGD:1352481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12414556 MCCD1 mitochondrial coiled-coil domain 1 gene DOID:630 genetic disease ISO RGD:1352481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414562 OR9A4 olfactory receptor family 9 subfamily A member 4 gene DOID:0080690 RASopathy ISO RGD:1352661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12414562 OR9A4 olfactory receptor family 9 subfamily A member 4 gene DOID:630 genetic disease ISO RGD:1352661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414562 OR9A4 olfactory receptor family 9 subfamily A member 4 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1352661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 12414563 SNRPC small nuclear ribonucleoprotein polypeptide C gene DOID:0050553 JMP syndrome ISO RGD:1314465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12414563 SNRPC small nuclear ribonucleoprotein polypeptide C gene DOID:3492 mixed connective tissue disease ISO RGD:1314465 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary PMID:10555891|REF_RGD_ID:10766447 12414563 SNRPC small nuclear ribonucleoprotein polypeptide C gene DOID:630 genetic disease ISO RGD:1314465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414563 SNRPC small nuclear ribonucleoprotein polypeptide C gene DOID:65 connective tissue disease ISO RGD:1314465 D RGD:9068941 20200609 RGD PMID:2968364|REF_RGD_ID:10448928 12414563 SNRPC small nuclear ribonucleoprotein polypeptide C gene DOID:9074 systemic lupus erythematosus ISO RGD:1314465 D RGD:9068941 20200609 RGD PMID:8647956|REF_RGD_ID:10766446 12414573 MCM5 minichromosome maintenance complex component 5 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1315334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12414573 MCM5 minichromosome maintenance complex component 5 gene DOID:0080255 Meier-Gorlin syndrome 8 ISO RGD:1315334 D RGD:7240710 20190315 OMIM 12414573 MCM5 minichromosome maintenance complex component 5 gene DOID:0080255 Meier-Gorlin syndrome 8 ISO RGD:1315334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 8 PMID:25741868|PMID:28198391|PMID:28492532 12414573 MCM5 minichromosome maintenance complex component 5 gene DOID:1574 alcohol use disorder ISO RGD:1306616 D RGD:9068941 20200609 RGD PMID:23095216|REF_RGD_ID:10045658 12414573 MCM5 minichromosome maintenance complex component 5 gene DOID:630 genetic disease ISO RGD:1315334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12414592 EYS eyes shut homolog gene DOID:0050817 Stargardt disease ISO RGD:1343004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:17576681|PMID:23591405|PMID:25133751|PMID:28492532|PMID:30718709|PMID:9536098 12414592 EYS eyes shut homolog gene DOID:0110384 retinitis pigmentosa 25 ISO RGD:1343004 D RGD:7240710 20180130 OMIM 12414592 EYS eyes shut homolog gene DOID:0110384 retinitis pigmentosa 25 ISO RGD:1343004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 25 PMID:16199547|PMID:17011488|PMID:17156103|PMID:17576681|PMID:18836446|PMID:18976725|PMID:18976726|PMID:20237254|PMID:2033377|PMID:20333770|PMID:20333771|PMID:20375346|PMID:20537394|PMID:21069908|PMID:21179430|PMID:21217109|PMID:21519034|PMID:22164218|PMID:22302105|PMID:22334370|PMID:22363543|PMID:22581970|PMID:23105016|PMID:23421333|PMID:23591405|PMID:23757202|PMID:24033266|PMID:24265693|PMID:24474277|PMID:24618324|PMID:24652164|PMID:24670872|PMID:24938718|PMID:25096270|PMID:25097241|PMID:25133751|PMID:25268133|PMID:25324289|PMID:25356976|PMID:25366773|PMID:25412400|PMID:25491159|PMID:25692139|PMID:25741868|PMID:25753737|PMID:26103963|PMID:26155838|PMID:26161267|PMID:26261414|PMID:26593283|PMID:26667666|PMID:26787102|PMID:26806561|PMID:26872967|PMID:27208204|PMID:27353947|PMID:27375351|PMID:27658286|PMID:27735924|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28704921|PMID:28763560|PMID:28838317|PMID:29074561|PMID:29159838|PMID:29550188|PMID:29625443|PMID:29641573|PMID:29785639|PMID:30153090|PMID:30337596|PMID:30487145|PMID:30513137|PMID:30543658|PMID:30718709|PMID:30804660|PMID:30902645|PMID:31054281|PMID:31074760|PMID:31106028|PMID:31144483|PMID:31213501|PMID:31456290|PMID:31725169|PMID:31814702|PMID:31872526|PMID:31960602|PMID:32036094|PMID:32037395|PMID:32218477|PMID:32531858|PMID:32581362|PMID:32675063|PMID:32728228|PMID:33090715|PMID:33247286|PMID:33576794|PMID:34178978|PMID:9536098|PMID:9585594 12414592 EYS eyes shut homolog gene DOID:10584 retinitis pigmentosa ISO RGD:1343004 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa PMID:16199547|PMID:17156103|PMID:17576681|PMID:18836446|PMID:18976725|PMID:18976726|PMID:20237254|PMID:2033377|PMID:20333770|PMID:20333771|PMID:20375346|PMID:20537394|PMID:21069908|PMID:21217109|PMID:21519034|PMID:22164218|PMID:22277662|PMID:22302105|PMID:22334370|PMID:22363543|PMID:22581970|PMID:23105016|PMID:23421333|PMID:23591405|PMID:24033266|PMID:24265693|PMID:24474277|PMID:24618324|PMID:24652164|PMID:24670872|PMID:24938718|PMID:25096270|PMID:25097241|PMID:25133751|PMID:25268133|PMID:25324289|PMID:25356976|PMID:25366773|PMID:25412400|PMID:25491159|PMID:25692139|PMID:25741868|PMID:25753737|PMID:26103963|PMID:26155838|PMID:26161267|PMID:26261414|PMID:26355662|PMID:26593283|PMID:26667666|PMID:26787102|PMID:26806561|PMID:26872967|PMID:27208204|PMID:27375351|PMID:27658286|PMID:28041643|PMID:28166811|PMID:28224992|PMID:28418496|PMID:28419563|PMID:28492532|PMID:28704921|PMID:28763560|PMID:28838317|PMID:29074561|PMID:29159838|PMID:29550188|PMID:29625443|PMID:29641573|PMID:29785639|PMID:30153090|PMID:30337596|PMID:30487145|PMID:30513137|PMID:30718709|PMID:30804660|PMID:31054281|PMID:31074760|PMID:31106028|PMID:31456290|PMID:31725169|PMID:31814702|PMID:31872526|PMID:32037395|PMID:32728228|PMID:33090715|PMID:33576794|PMID:9536098|PMID:9585594 12414592 EYS eyes shut homolog gene DOID:10584 retinitis pigmentosa ISO RGD:1343004 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:16199547|PMID:17156103|PMID:17576681|PMID:18836446|PMID:18976725|PMID:18976726|PMID:20237254|PMID:2033377|PMID:20333770|PMID:20333771|PMID:20375346|PMID:20537394|PMID:21069908|PMID:21217109|PMID:21519034|PMID:22164218|PMID:22277662|PMID:22302105|PMID:22334370|PMID:22363543|PMID:22581970|PMID:23105016|PMID:23421333|PMID:23591405|PMID:24033266|PMID:24265693|PMID:24474277|PMID:24618324|PMID:24652164|PMID:24670872|PMID:24938718|PMID:25096270|PMID:25097241|PMID:25133751|PMID:25268133|PMID:25324289|PMID:25356976|PMID:25366773|PMID:25412400|PMID:25491159|PMID:25692139|PMID:25741868|PMID:25753737|PMID:26103963|PMID:26155838|PMID:26161267|PMID:26261414|PMID:26355662|PMID:26593283|PMID:26667666|PMID:26787102|PMID:26806561|PMID:26872967|PMID:27208204|PMID:27375351|PMID:27658286|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28419563|PMID:28492532|PMID:28704921|PMID:28763560|PMID:28838317|PMID:29074561|PMID:29159838|PMID:29550188|PMID:29625443|PMID:29641573|PMID:29785639|PMID:30153090|PMID:30337596|PMID:30487145|PMID:30513137|PMID:30718709|PMID:30804660|PMID:31054281|PMID:31074760|PMID:31106028|PMID:31456290|PMID:31725169|PMID:31814702|PMID:31872526|PMID:31960602|PMID:32037395|PMID:32218477|PMID:32728228|PMID:33090715|PMID:33576794|PMID:9536098|PMID:9585594 12414592 EYS eyes shut homolog gene DOID:10584 retinitis pigmentosa ISO RGD:1343004 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:17156103|PMID:17576681|PMID:18836446|PMID:18976725|PMID:18976726|PMID:20237254|PMID:2033377|PMID:20333770|PMID:20333771|PMID:20375346|PMID:20537394|PMID:21069908|PMID:21217109|PMID:21519034|PMID:22164218|PMID:22277662|PMID:22302105|PMID:22334370|PMID:22363543|PMID:22581970|PMID:23105016|PMID:23421333|PMID:23591405|PMID:24033266|PMID:24265693|PMID:24474277|PMID:24618324|PMID:24652164|PMID:24670872|PMID:24938718|PMID:25096270|PMID:25097241|PMID:25133751|PMID:25268133|PMID:25324289|PMID:25356976|PMID:25366773|PMID:25412400|PMID:25491159|PMID:25692139|PMID:25741868|PMID:25753737|PMID:26103963|PMID:26155838|PMID:26161267|PMID:26261414|PMID:26355662|PMID:26593283|PMID:26667666|PMID:26787102|PMID:26806561|PMID:26872967|PMID:27208204|PMID:27375351|PMID:27658286|PMID:27735924|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28419563|PMID:28492532|PMID:28704921|PMID:28763560|PMID:28838317|PMID:29074561|PMID:29159838|PMID:29550188|PMID:29625443|PMID:29641573|PMID:29785639|PMID:30153090|PMID:30337596|PMID:30487145|PMID:30513137|PMID:30718709|PMID:30804660|PMID:31054281|PMID:31074760|PMID:31106028|PMID:31456290|PMID:31725169|PMID:31814702|PMID:31872526|PMID:31960602|PMID:32000842|PMID:32037395|PMID:32218477|PMID:32728228|PMID:33090715|PMID:33576794|PMID:9536098|PMID:9585594 12414592 EYS eyes shut homolog gene DOID:10584 retinitis pigmentosa ISO RGD:1343004 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa PMID:16199547|PMID:17156103|PMID:17576681|PMID:18836446|PMID:18976725|PMID:18976726|PMID:20237254|PMID:2033377|PMID:20333770|PMID:20333771|PMID:20375346|PMID:20537394|PMID:21069908|PMID:21217109|PMID:21519034|PMID:22164218|PMID:22277662|PMID:22302105|PMID:22334370|PMID:22363543|PMID:22581970|PMID:23105016|PMID:23421333|PMID:23591405|PMID:24033266|PMID:24265693|PMID:24474277|PMID:24618324|PMID:24652164|PMID:24670872|PMID:24938718|PMID:25096270|PMID:25097241|PMID:25133751|PMID:25268133|PMID:25324289|PMID:25356976|PMID:25366773|PMID:25412400|PMID:25491159|PMID:25692139|PMID:25741868|PMID:25753737|PMID:26103963|PMID:26155838|PMID:26161267|PMID:26261414|PMID:26355662|PMID:26593283|PMID:26667666|PMID:26787102|PMID:26806561|PMID:26872967|PMID:27208204|PMID:27375351|PMID:27658286|PMID:27735924|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28419563|PMID:28492532|PMID:287049|PMID:28704921|PMID:28763560|PMID:28838317|PMID:29074561|PMID:29159838|PMID:29550188|PMID:29625443|PMID:29641573|PMID:29785639|PMID:30153090|PMID:30337596|PMID:30487145|PMID:30513137|PMID:30718709|PMID:30804660|PMID:31054281|PMID:31074760|PMID:31106028|PMID:31213501|PMID:31456290|PMID:31725169|PMID:31814702|PMID:31872526|PMID:31960602|PMID:32000842|PMID:32037395|PMID:32218477|PMID:32552793|PMID:32675063|PMID:32728228|PMID:33090715|PMID:33247286|PMID:33576794|PMID:34178978|PMID:9536098|PMID:9585594 12414592 EYS eyes shut homolog gene DOID:10584 retinitis pigmentosa ISO RGD:1343004 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:16199547|PMID:17156103|PMID:17576681|PMID:18836446|PMID:18976725|PMID:18976726|PMID:20237254|PMID:2033377|PMID:20333770|PMID:20333771|PMID:20375346|PMID:20537394|PMID:21069908|PMID:21217109|PMID:21519034|PMID:22164218|PMID:22277662|PMID:22302105|PMID:22334370|PMID:22363543|PMID:22581970|PMID:23105016|PMID:23421333|PMID:23591405|PMID:24033266|PMID:24265693|PMID:24474277|PMID:24618324|PMID:24652164|PMID:24670872|PMID:24938718|PMID:25096270|PMID:25097241|PMID:25133751|PMID:25268133|PMID:25324289|PMID:25356976|PMID:25366773|PMID:25412400|PMID:25491159|PMID:25692139|PMID:25741868|PMID:25753737|PMID:26103963|PMID:26155838|PMID:26161267|PMID:26261414|PMID:26355662|PMID:26593283|PMID:26667666|PMID:26787102|PMID:26806561|PMID:26872967|PMID:27208204|PMID:27375351|PMID:27658286|PMID:27735924|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28419563|PMID:28492532|PMID:28704921|PMID:28763560|PMID:28838317|PMID:29074561|PMID:29159838|PMID:29550188|PMID:29625443|PMID:29641573|PMID:29785639|PMID:30153090|PMID:30337596|PMID:30487145|PMID:30513137|PMID:30718709|PMID:30804660|PMID:31054281|PMID:31074760|PMID:31106028|PMID:31213501|PMID:31456290|PMID:31725169|PMID:31814702|PMID:31872526|PMID:31960602|PMID:32000842|PMID:32037395|PMID:32218477|PMID:32675063|PMID:32728228|PMID:33090715|PMID:33247286|PMID:33576794|PMID:34178978|PMID:9536098|PMID:9585594 12414592 EYS eyes shut homolog gene DOID:10584 retinitis pigmentosa ISO RGD:1343004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:17156103|PMID:17576681|PMID:18836446|PMID:18976725|PMID:18976726|PMID:20237254|PMID:2033377|PMID:20333770|PMID:20333771|PMID:20375346|PMID:20537394|PMID:21069908|PMID:21179430|PMID:21217109|PMID:21519034|PMID:22164218|PMID:22277662|PMID:22302105|PMID:22334370|PMID:22363543|PMID:22581970|PMID:23105016|PMID:23421333|PMID:23591405|PMID:24033266|PMID:24265693|PMID:24474277|PMID:24618324|PMID:24652164|PMID:24670872|PMID:24938718|PMID:25096270|PMID:25097241|PMID:25133751|PMID:25268133|PMID:25324289|PMID:25356976|PMID:25366773|PMID:25412400|PMID:25491159|PMID:25692139|PMID:25741868|PMID:25753737|PMID:26103963|PMID:26155838|PMID:26161267|PMID:26261414|PMID:26355662|PMID:26593283|PMID:26667666|PMID:26787102|PMID:26806561|PMID:26872967|PMID:27208204|PMID:27375351|PMID:27658286|PMID:27735924|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28419563|PMID:28492532|PMID:28704921|PMID:28763560|PMID:28838317|PMID:29074561|PMID:29159838|PMID:29550188|PMID:29625443|PMID:29641573|PMID:29785639|PMID:30153090|PMID:30337596|PMID:30487145|PMID:30513137|PMID:30718709|PMID:30804660|PMID:31054281|PMID:31074760|PMID:31106028|PMID:31213501|PMID:31456290|PMID:31725169|PMID:31814702|PMID:31872526|PMID:31960602|PMID:32000842|PMID:32037395|PMID:32218477|PMID:32531858|PMID:32581362|PMID:32675063|PMID:32728228|PMID:33090715|PMID:33247286|PMID:33576794|PMID:33691693|PMID:34178978|PMID:9536098|PMID:9585594 12414592 EYS eyes shut homolog gene DOID:10584 retinitis pigmentosa ISO RGD:1343004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:16199547|PMID:17156103|PMID:17576681|PMID:18836446|PMID:18976725|PMID:18976726|PMID:20237254|PMID:2033377|PMID:20333770|PMID:20333771|PMID:20375346|PMID:20537394|PMID:21069908|PMID:21179430|PMID:21217109|PMID:21519034|PMID:22164218|PMID:22277662|PMID:22302105|PMID:22334370|PMID:22363543|PMID:22581970|PMID:23105016|PMID:23421333|PMID:23591405|PMID:24033266|PMID:24265693|PMID:24474277|PMID:24618324|PMID:24652164|PMID:24670872|PMID:24938718|PMID:25096270|PMID:25097241|PMID:25133751|PMID:25268133|PMID:25324289|PMID:25356976|PMID:25366773|PMID:25412400|PMID:25491159|PMID:25692139|PMID:25741868|PMID:25753737|PMID:26103963|PMID:26155838|PMID:26161267|PMID:26261414|PMID:26355662|PMID:26593283|PMID:26667666|PMID:26787102|PMID:26806561|PMID:26872967|PMID:27208204|PMID:27375351|PMID:27658286|PMID:27735924|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28419563|PMID:28492532|PMID:28704921|PMID:28763560|PMID:28838317|PMID:29074561|PMID:29159838|PMID:29550188|PMID:29625443|PMID:29641573|PMID:29785639|PMID:30153090|PMID:30337596|PMID:30487145|PMID:30513137|PMID:30543658|PMID:30718709|PMID:30804660|PMID:31054281|PMID:31074760|PMID:31106028|PMID:31213501|PMID:31456290|PMID:31725169|PMID:31814702|PMID:31872526|PMID:31960602|PMID:32000842|PMID:32037395|PMID:32218477|PMID:32531858|PMID:32581362|PMID:32675063|PMID:32728228|PMID:33090715|PMID:33247286|PMID:33576794|PMID:33691693|PMID:34178978|PMID:9536098|PMID:9585594 12414592 EYS eyes shut homolog gene DOID:10584 retinitis pigmentosa ISO RGD:1343004 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:17156103|PMID:17576681|PMID:18836446|PMID:18976725|PMID:18976726|PMID:20237254|PMID:2033377|PMID:20333770|PMID:20333771|PMID:20375346|PMID:20537394|PMID:21069908|PMID:21179430|PMID:21217109|PMID:21519034|PMID:22164218|PMID:22277662|PMID:22302105|PMID:22334370|PMID:22363543|PMID:22581970|PMID:23105016|PMID:23421333|PMID:23591405|PMID:24033266|PMID:24265693|PMID:24474277|PMID:24618324|PMID:24652164|PMID:24670872|PMID:24938718|PMID:25096270|PMID:25097241|PMID:25133751|PMID:25268133|PMID:25324289|PMID:25356976|PMID:25366773|PMID:25412400|PMID:25491159|PMID:25692139|PMID:25741868|PMID:25753737|PMID:26103963|PMID:26155838|PMID:26161267|PMID:26261414|PMID:26355662|PMID:26593283|PMID:26667666|PMID:26787102|PMID:26806561|PMID:26872967|PMID:27208204|PMID:27375351|PMID:27658286|PMID:27735924|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28419563|PMID:28492532|PMID:28704921|PMID:28763560|PMID:28838317|PMID:29074561|PMID:29159838|PMID:29550188|PMID:29625443|PMID:29641573|PMID:29785639|PMID:30153090|PMID:30337596|PMID:30487145|PMID:30513137|PMID:30543658|PMID:30718709|PMID:30804660|PMID:31054281|PMID:31074760|PMID:31106028|PMID:31213501|PMID:31456290|PMID:31725169|PMID:31814702|PMID:31872526|PMID:31960602|PMID:32000842|PMID:32037395|PMID:32218477|PMID:32531858|PMID:32581362|PMID:32675063|PMID:32728228|PMID:33090715|PMID:33247286|PMID:33576794|PMID:33691693|PMID:33749171|PMID:34178978|PMID:9536098|PMID:9585594 12414592 EYS eyes shut homolog gene DOID:11782 astigmatism ISO RGD:1343004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astigmatism PMID:25741868 12414592 EYS eyes shut homolog gene DOID:4448 macular degeneration ISO RGD:1343004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:20237254|PMID:21069908|PMID:23105016|PMID:25097241|PMID:25741868|PMID:28492532|PMID:30153090|PMID:30718709|PMID:31074760|PMID:32728228 12414592 EYS eyes shut homolog gene DOID:5327 retinal detachment ISO RGD:1343004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal detachment PMID:25741868 12414592 EYS eyes shut homolog gene DOID:630 genetic disease ISO RGD:1343004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12414592 EYS eyes shut homolog gene DOID:8501 fundus dystrophy ISO RGD:1343004 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:17576681|PMID:18836446|PMID:18976725|PMID:18976726|PMID:20237254|PMID:20333770|PMID:20537394|PMID:21069908|PMID:21217109|PMID:21519034|PMID:22164218|PMID:22302105|PMID:22363543|PMID:22581970|PMID:23105016|PMID:23591405|PMID:23757202|PMID:24033266|PMID:24265693|PMID:24474277|PMID:24618324|PMID:24652164|PMID:24670872|PMID:24938718|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25356976|PMID:25366773|PMID:25412400|PMID:25491159|PMID:25692139|PMID:25741868|PMID:25753737|PMID:26103963|PMID:26161267|PMID:26261414|PMID:26667666|PMID:26806561|PMID:26872967|PMID:27208204|PMID:27353947|PMID:27375351|PMID:27658286|PMID:28041643|PMID:28418496|PMID:28492532|PMID:28559085|PMID:28704921|PMID:28838317|PMID:29159838|PMID:29550188|PMID:29625443|PMID:29785639|PMID:30153090|PMID:30337596|PMID:30487145|PMID:30718709|PMID:31054281|PMID:31074760|PMID:31213501|PMID:31456290|PMID:31725169|PMID:31872526|PMID:32036094|PMID:32037395|PMID:32218477|PMID:32531858|PMID:32728228|PMID:33749171|PMID:9536098 12414592 EYS eyes shut homolog gene DOID:9000343 Vision Disorders ISO RGD:1343004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:25741868 12414592 EYS eyes shut homolog gene DOID:9008296 Eye Abnormalities ISO RGD:1343004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:16199547|PMID:18836446|PMID:20333770|PMID:25741868|PMID:28492532|PMID:29785639|PMID:33576794 12414592 EYS eyes shut homolog gene DOID:980 choroidal sclerosis ISO RGD:1343004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Central areolar choroidal dystrophy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12414641 JDP2 Jun dimerization protein 2 gene DOID:1059 intellectual disability ISO RGD:1602305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12414641 JDP2 Jun dimerization protein 2 gene DOID:630 genetic disease ISO RGD:1602305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414641 JDP2 Jun dimerization protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1602305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20214788 12414641 JDP2 Jun dimerization protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12414660 LOC100683500 protein FAM24B gene DOID:2340 craniosynostosis ISO RGD:1352359 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 12414660 LOC100683500 protein FAM24B gene DOID:630 genetic disease ISO RGD:1352359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414671 ATXN7L3B ataxin 7 like 3B gene DOID:630 genetic disease ISO RGD:2816966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414686 MIR346 microRNA mir-346 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1352152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 12414686 MIR346 microRNA mir-346 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27777383 12414686 MIR346 microRNA mir-346 gene DOID:9000918 Disease Progression ISO RGD:1352152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27777383 12414686 MIR346 microRNA mir-346 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27501413|PMID:27777383 12414686 MIR346 microRNA mir-346 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1352152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27501413|PMID:27777383 12414686 MIR346 microRNA mir-346 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1352152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12414686 MIR346 microRNA mir-346 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352152 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34773443 12414749 OR2C1 olfactory receptor family 2 subfamily C member 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1342915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12414749 OR2C1 olfactory receptor family 2 subfamily C member 1 gene DOID:1826 epilepsy ISO RGD:1342915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12414749 OR2C1 olfactory receptor family 2 subfamily C member 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1342915 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12414749 OR2C1 olfactory receptor family 2 subfamily C member 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1342915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12414749 OR2C1 olfactory receptor family 2 subfamily C member 1 gene DOID:630 genetic disease ISO RGD:1342915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414767 ZHX1 zinc fingers and homeoboxes 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1346071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12414767 ZHX1 zinc fingers and homeoboxes 1 gene DOID:630 genetic disease ISO RGD:1346071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414775 C18H11orf98 chromosome 18 C11orf98 homolog gene DOID:0080118 mitochondrial complex III deficiency nuclear type 9 ISO RGD:1604294 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 9 PMID:25008109|PMID:25741868|PMID:28492532 12414775 C18H11orf98 chromosome 18 C11orf98 homolog gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1604294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 12414775 C18H11orf98 chromosome 18 C11orf98 homolog gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12414775 C18H11orf98 chromosome 18 C11orf98 homolog gene DOID:1059 intellectual disability ISO RGD:1604294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12414775 C18H11orf98 chromosome 18 C11orf98 homolog gene DOID:630 genetic disease ISO RGD:1604294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414783 LATS1 large tumor suppressor kinase 1 gene DOID:1788 peritoneal mesothelioma ISO RGD:1349703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant peritoneal mesothelioma 12414783 LATS1 large tumor suppressor kinase 1 gene DOID:2513 basal cell carcinoma ISO RGD:1349703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 12414783 LATS1 large tumor suppressor kinase 1 gene DOID:2661 myoepithelioma ISO RGD:1349703 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12414783 LATS1 large tumor suppressor kinase 1 gene DOID:3069 malignant astrocytoma ISO RGD:1349703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17049657 12414783 LATS1 large tumor suppressor kinase 1 gene DOID:3070 high grade glioma ISO RGD:1349703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12414783 LATS1 large tumor suppressor kinase 1 gene DOID:3307 teratoma ISO RGD:1349703 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 12414783 LATS1 large tumor suppressor kinase 1 gene DOID:630 genetic disease ISO RGD:1349703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414783 LATS1 large tumor suppressor kinase 1 gene DOID:9006493 Glandular and Epithelial Neoplasms ISO RGD:1349703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21447609 12414783 LATS1 large tumor suppressor kinase 1 gene DOID:9538 multiple myeloma ISO RGD:1349703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 12414815 CEP63 centrosomal protein 63 gene DOID:0050569 Seckel syndrome ISO RGD:1617588 D RGD:9068941 20220825 MouseDO 12414815 CEP63 centrosomal protein 63 gene DOID:0070006 Seckel syndrome 6 ISO RGD:1602096 D RGD:7240710 20180130 OMIM 12414815 CEP63 centrosomal protein 63 gene DOID:0070006 Seckel syndrome 6 ISO RGD:1602096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seckel syndrome 6 PMID:16199547|PMID:21983783|PMID:23936128|PMID:25741868|PMID:26158450|PMID:28492532 12414815 CEP63 centrosomal protein 63 gene DOID:0080098 myofibrillar myopathy 7 ISO RGD:1602096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 7 PMID:25741868|PMID:27484770|PMID:27485408|PMID:30591934 12414815 CEP63 centrosomal protein 63 gene DOID:10907 microcephaly ISO RGD:1602096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983783 12414815 CEP63 centrosomal protein 63 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1602096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28488683 12414815 CEP63 centrosomal protein 63 gene DOID:630 genetic disease ISO RGD:1602096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:28492532 12414815 CEP63 centrosomal protein 63 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1602096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12414853 RBBP4 RB binding protein 4, chromatin remodeling factor gene DOID:630 genetic disease ISO RGD:1323349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414869 ZNF518B zinc finger protein 518B gene DOID:630 genetic disease ISO RGD:1604562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414888 KCNIP4 potassium voltage-gated channel interacting protein 4 gene DOID:630 genetic disease ISO RGD:733209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414909 GRM8 glutamate metabotropic receptor 8 gene DOID:0080855 Parkinsonism ISO RGD:619858 D RGD:9068941 20200609 RGD PMID:22546615|REF_RGD_ID:6771180 12414909 GRM8 glutamate metabotropic receptor 8 gene DOID:10283 prostate cancer ISO RGD:1350769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12414909 GRM8 glutamate metabotropic receptor 8 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1350769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138692 12414909 GRM8 glutamate metabotropic receptor 8 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1350769 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:22138692|REF_RGD_ID:6484664 12414909 GRM8 glutamate metabotropic receptor 8 gene DOID:11832 visual epilepsy ISO RGD:619858 D RGD:9068941 20200609 RGD PMID:17434465|REF_RGD_ID:6771182 12414909 GRM8 glutamate metabotropic receptor 8 gene DOID:12849 autistic disorder ISO RGD:1350769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12676915 12414909 GRM8 glutamate metabotropic receptor 8 gene DOID:12849 autistic disorder susceptibility ISO RGD:1350769 D RGD:9068941 20200806 RGD DNA:SNPs, haplotypes:intron 8, exon 10, 3'utr: (rs2237731, rs712723, rs1800656) (human) PMID:12676915|REF_RGD_ID:1358645 12414909 GRM8 glutamate metabotropic receptor 8 gene DOID:1824 status epilepticus ISO RGD:731666 D RGD:9068941 20200609 RGD PMID:17430409|REF_RGD_ID:6771183 12414909 GRM8 glutamate metabotropic receptor 8 gene DOID:1826 epilepsy ISO RGD:619858 D RGD:9068941 20200609 RGD PMID:17940877|REF_RGD_ID:6484665 12414909 GRM8 glutamate metabotropic receptor 8 gene DOID:2030 anxiety disorder ISO RGD:1350769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17434465 12414909 GRM8 glutamate metabotropic receptor 8 gene DOID:2377 multiple sclerosis ISO RGD:1350769 D RGD:9068941 20200609 RGD protein:increased expression:astrocyte, microglia, macrophage PMID:15589052|REF_RGD_ID:6771187 12414909 GRM8 glutamate metabotropic receptor 8 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12414909 GRM8 glutamate metabotropic receptor 8 gene DOID:5409 lung small cell carcinoma ISO RGD:1350769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 12414909 GRM8 glutamate metabotropic receptor 8 gene DOID:5419 schizophrenia ISO RGD:1350769 D RGD:9068941 20200609 RGD PMID:15211621|REF_RGD_ID:6484666 12414909 GRM8 glutamate metabotropic receptor 8 gene DOID:630 genetic disease ISO RGD:1350769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414909 GRM8 glutamate metabotropic receptor 8 gene DOID:9000998 Brain Injuries ISO RGD:1350769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 12414909 GRM8 glutamate metabotropic receptor 8 gene DOID:9001048 Nociceptive Pain ISO RGD:731666 D RGD:9068941 20200609 RGD PMID:17113112|REF_RGD_ID:6771186 12414909 GRM8 glutamate metabotropic receptor 8 gene DOID:9002211 Hyperalgesia ISO RGD:731666 D RGD:9068941 20200609 RGD PMID:17113112|REF_RGD_ID:6771186 12414909 GRM8 glutamate metabotropic receptor 8 gene DOID:9007402 Gliosis ISO RGD:1350769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11226630 12414939 ARHGEF4 Rho guanine nucleotide exchange factor 4 gene DOID:5419 schizophrenia ISO RGD:1312054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12414939 ARHGEF4 Rho guanine nucleotide exchange factor 4 gene DOID:630 genetic disease ISO RGD:1312054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414955 ADGRG6 adhesion G protein-coupled receptor G6 gene DOID:0060250 idiopathic scoliosis ISO RGD:1318390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23666238 12414955 ADGRG6 adhesion G protein-coupled receptor G6 gene DOID:0060250 idiopathic scoliosis ISO RGD:1551030 D RGD:9068941 20220825 MouseDO 12414955 ADGRG6 adhesion G protein-coupled receptor G6 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1318390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:26004201|PMID:26752647 12414955 ADGRG6 adhesion G protein-coupled receptor G6 gene DOID:3910 lung adenocarcinoma ISO RGD:1318390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 12414955 ADGRG6 adhesion G protein-coupled receptor G6 gene DOID:630 genetic disease ISO RGD:1318390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12414955 ADGRG6 adhesion G protein-coupled receptor G6 gene DOID:9001538 Lethal Congenital Contracture Syndrome 9 ISO RGD:1318390 D RGD:7240710 20190315 OMIM 12414955 ADGRG6 adhesion G protein-coupled receptor G6 gene DOID:9001538 Lethal Congenital Contracture Syndrome 9 ISO RGD:1318390 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 9 PMID:25741868|PMID:26004201|PMID:26752647|PMID:28492532 12414999 CD70 CD70 molecule gene DOID:0080490 mucolipidosis type IV ISO RGD:1351721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12414999 CD70 CD70 molecule gene DOID:12930 dilated cardiomyopathy ISO RGD:1351721 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 12414999 CD70 CD70 molecule gene DOID:630 genetic disease ISO RGD:1351721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12414999 CD70 CD70 molecule gene DOID:820 myocarditis ISO RGD:1351721 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 12414999 CD70 CD70 molecule gene DOID:9009027 Lymphoproliferative Syndrome 3 ISO RGD:1351721 D RGD:7240710 20190315 OMIM 12414999 CD70 CD70 molecule gene DOID:9009027 Lymphoproliferative Syndrome 3 ISO RGD:1351721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LYMPHOPROLIFERATIVE SYNDROME 3 PMID:28011863|PMID:28011864 12414999 CD70 CD70 molecule gene DOID:934 viral infectious disease ISO RGD:1351721 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 12415006 GMEB2 glucocorticoid modulatory element binding protein 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 12415006 GMEB2 glucocorticoid modulatory element binding protein 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:736932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12415006 GMEB2 glucocorticoid modulatory element binding protein 2 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:736932 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 12415006 GMEB2 glucocorticoid modulatory element binding protein 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:736932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12415006 GMEB2 glucocorticoid modulatory element binding protein 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:736932 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12415006 GMEB2 glucocorticoid modulatory element binding protein 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 12415006 GMEB2 glucocorticoid modulatory element binding protein 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12415006 GMEB2 glucocorticoid modulatory element binding protein 2 gene DOID:630 genetic disease ISO RGD:736932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12415006 GMEB2 glucocorticoid modulatory element binding protein 2 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:736932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 12415027 ART4 ADP-ribosyltransferase 4 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1315084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12415027 ART4 ADP-ribosyltransferase 4 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1315084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12415027 ART4 ADP-ribosyltransferase 4 gene DOID:630 genetic disease ISO RGD:1315084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12415034 CCNO cyclin O gene DOID:0110600 primary ciliary dyskinesia 29 ISO RGD:1346890 D RGD:7240710 20180130 OMIM 12415034 CCNO cyclin O gene DOID:0110600 primary ciliary dyskinesia 29 ISO RGD:1346890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 29 PMID:24747639|PMID:25741868|PMID:28492532|PMID:30067075|PMID:31879361|PMID:31980526|PMID:32367404|PMID:32622824|PMID:331765523 12415034 CCNO cyclin O gene DOID:2320 obstructive lung disease ISO RGD:1346890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747639 12415034 CCNO cyclin O gene DOID:630 genetic disease ISO RGD:1346890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12415034 CCNO cyclin O gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12415034 CCNO cyclin O gene DOID:9562 primary ciliary dyskinesia ISO RGD:1346890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:24033266|PMID:24747639|PMID:25741868|PMID:26139845|PMID:26777464|PMID:28492532|PMID:30067075|PMID:31650533|PMID:31879361|PMID:31980526|PMID:32367404|PMID:32622824|PMID:331765523|PMID:9536098 12415045 PLXNA2 plexin A2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1313288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 12415045 PLXNA2 plexin A2 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1313288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 12415045 PLXNA2 plexin A2 gene DOID:12849 autistic disorder ISO RGD:1313288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12415045 PLXNA2 plexin A2 gene DOID:1540 parathyroid carcinoma ISO RGD:1313288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12415045 PLXNA2 plexin A2 gene DOID:5419 schizophrenia ISO RGD:1313288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 12415045 PLXNA2 plexin A2 gene DOID:630 genetic disease ISO RGD:1313288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12415045 PLXNA2 plexin A2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1313288 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12415045 PLXNA2 plexin A2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12415080 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1317236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19011012|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23847139|PMID:24265693|PMID:24474277|PMID:24625443|PMID:25412400|PMID:25494902|PMID:25561519|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26667666|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28512305|PMID:2855908|PMID:28559085|PMID:29178642|PMID:30372751|PMID:30718709|PMID:9536098 12415080 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1317236 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: Retinitis pigmentosa 53 PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19011012|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:24265693|PMID:24474277|PMID:24625443|PMID:25412400|PMID:25494902|PMID:25561519|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26667666|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28512305|PMID:2855908|PMID:28559085|PMID:29178642|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31456290|PMID:31630094|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:9536098 12415080 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:0110768 hereditary spastic paraplegia 15 ISO RGD:1317236 D RGD:7240710 20180130 OMIM 12415080 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:0110768 hereditary spastic paraplegia 15 ISO RGD:1317236 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 15 | ClinVar Annotator: match by term: Recessive spastic paraplegia with retinal degeneration PMID:11342696|PMID:16199547|PMID:17576681|PMID:17661097|PMID:18098276|PMID:18394578|PMID:19805727|PMID:19917823|PMID:23733235|PMID:24088041|PMID:24833714|PMID:25133958|PMID:25497598|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26492578|PMID:26633545|PMID:27217339|PMID:27544497|PMID:28492532|PMID:28832565|PMID:29246610|PMID:29858556|PMID:30555096|PMID:31108397|PMID:6944241|PMID:9536098 12415080 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:10584 retinitis pigmentosa ISO RGD:1317236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:18779497|PMID:19011012|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31456290|PMID:32141364|PMID:32790509|PMID:34001834 12415080 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:1059 intellectual disability ISO RGD:1317236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:18394578|PMID:19805727|PMID:25741868|PMID:27544497|PMID:28492532 12415080 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:1242 globe disease ISO RGD:1317236 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Globe disease PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:20301475|PMID:20683928|PMID:22065924|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532 12415080 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:14791 Leber congenital amaurosis ISO RGD:1317236 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17576681|PMID:19011012|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:24265693|PMID:24474277|PMID:24625443|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26667666|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29186038|PMID:30134391|PMID:30543658|PMID:30902645|PMID:30979730|PMID:31456290|PMID:32141364|PMID:32790509|PMID:32865313|PMID:34001834|PMID:9536098 12415080 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:16199547|PMID:17576681|PMID:18394578|PMID:19805727|PMID:19917823|PMID:24088041|PMID:24833714|PMID:25133958|PMID:25741868|PMID:26467025|PMID:26633545|PMID:28492532|PMID:28832565|PMID:31108397|PMID:6944241|PMID:9536098 12415080 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317236 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:16199547|PMID:17576681|PMID:18394578|PMID:19805727|PMID:19917823|PMID:24088041|PMID:24833714|PMID:25133958|PMID:25741868|PMID:26467025|PMID:26633545|PMID:28492532|PMID:28832565|PMID:29246610|PMID:31108397|PMID:6944241|PMID:9536098 12415080 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:4448 macular degeneration ISO RGD:1317236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:16269441|PMID:17512964|PMID:19011012|PMID:21151602|PMID:23591405|PMID:25412400|PMID:25494902|PMID:25741868|PMID:28492532|PMID:30902645|PMID:30979730|PMID:32790509|PMID:34001834 12415080 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:607 paraplegia ISO RGD:1317236 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:11342696|PMID:16199547|PMID:17576681|PMID:17661097|PMID:18394578|PMID:18414213|PMID:19084844|PMID:19763152|PMID:19805727|PMID:19917823|PMID:20307669|PMID:21462267|PMID:22406018|PMID:24030950|PMID:24088041|PMID:24833714|PMID:25133958|PMID:25497598|PMID:25741868|PMID:26467025|PMID:26492578|PMID:26633545|PMID:26944241|PMID:27217339|PMID:27544497|PMID:28492532|PMID:28832565|PMID:29246610|PMID:29858556|PMID:30555096|PMID:31108397|PMID:6944241|PMID:9536098 12415080 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:630 genetic disease ISO RGD:1317236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:18394578|PMID:19805727|PMID:19917823|PMID:24030950|PMID:24833714|PMID:25741868|PMID:26467025|PMID:28492532 12415080 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:8501 fundus dystrophy ISO RGD:1317236 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17576681|PMID:18779497|PMID:20301475|PMID:20683928|PMID:20736127|PMID:22065924|PMID:23847139|PMID:24265693|PMID:24625443|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26667666|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29178642|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30979730|PMID:31456290|PMID:32141364|PMID:9536098 12415080 ZFYVE26 zinc finger FYVE-type containing 26 gene DOID:9008296 Eye Abnormalities ISO RGD:1317236 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:20301475|PMID:20683928|PMID:22065924|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532 12415129 QSOX2 quiescin sulfhydryl oxidase 2 gene DOID:0050777 Joubert syndrome ISO RGD:1316813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12415129 QSOX2 quiescin sulfhydryl oxidase 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1316813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12415129 QSOX2 quiescin sulfhydryl oxidase 2 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1316813 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12415129 QSOX2 quiescin sulfhydryl oxidase 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1316813 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12415129 QSOX2 quiescin sulfhydryl oxidase 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12415129 QSOX2 quiescin sulfhydryl oxidase 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1316813 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12415129 QSOX2 quiescin sulfhydryl oxidase 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316813 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12415129 QSOX2 quiescin sulfhydryl oxidase 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1316813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12415129 QSOX2 quiescin sulfhydryl oxidase 2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1316813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12415129 QSOX2 quiescin sulfhydryl oxidase 2 gene DOID:3652 Leigh disease ISO RGD:1316813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12415129 QSOX2 quiescin sulfhydryl oxidase 2 gene DOID:630 genetic disease ISO RGD:1316813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12415129 QSOX2 quiescin sulfhydryl oxidase 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1316813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 12415145 KIF13A kinesin family member 13A gene DOID:630 genetic disease ISO RGD:1317245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12415191 CIMAP2 ciliary microtubule associated protein 2 gene DOID:630 genetic disease ISO RGD:1603553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12415211 GALNTL5 polypeptide N-acetylgalactosaminyltransferase like 5 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1351459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:18348270|PMID:25606385|PMID:28492532 12415211 GALNTL5 polypeptide N-acetylgalactosaminyltransferase like 5 gene DOID:12336 male infertility ISO RGD:1351459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 12415211 GALNTL5 polypeptide N-acetylgalactosaminyltransferase like 5 gene DOID:2843 long QT syndrome ISO RGD:1351459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12415211 GALNTL5 polypeptide N-acetylgalactosaminyltransferase like 5 gene DOID:37 skin disease ISO RGD:1351459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28720099 12415211 GALNTL5 polypeptide N-acetylgalactosaminyltransferase like 5 gene DOID:630 genetic disease ISO RGD:1351459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12415224 CFAP418 cilia and flagella associated protein 418 gene DOID:0050572 cone-rod dystrophy ISO RGD:1606135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive 12415224 CFAP418 cilia and flagella associated protein 418 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1606135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:24442880|PMID:28492532 12415224 CFAP418 cilia and flagella associated protein 418 gene DOID:0081010 Bardet-Biedl syndrome 21 ISO RGD:1606135 D RGD:7240710 20190315 OMIM 12415224 CFAP418 cilia and flagella associated protein 418 gene DOID:0081010 Bardet-Biedl syndrome 21 ISO RGD:1606135 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Bardet-biedl syndrome 21 PMID:22177090|PMID:25515582|PMID:25741868|PMID:26355662|PMID:26854863|PMID:27008867|PMID:28492532|PMID:29127258|PMID:30029497|PMID:31456290 12415224 CFAP418 cilia and flagella associated protein 418 gene DOID:0111022 cone-rod dystrophy 16 ISO RGD:1606135 D RGD:7240710 20180130 OMIM 12415224 CFAP418 cilia and flagella associated protein 418 gene DOID:0111022 cone-rod dystrophy 16 ISO RGD:1606135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 16 | ClinVar Annotator: match by term: Retinitis pigmentosa 64 PMID:22177090|PMID:25515582|PMID:25741868|PMID:25802487|PMID:26355662|PMID:26854863|PMID:26865426|PMID:27008867|PMID:28492532|PMID:29843741|PMID:30029497|PMID:31456290 12415224 CFAP418 cilia and flagella associated protein 418 gene DOID:10584 retinitis pigmentosa ISO RGD:1606135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22177090|PMID:25741868|PMID:26355662|PMID:26854863|PMID:27008867|PMID:28492532 12415224 CFAP418 cilia and flagella associated protein 418 gene DOID:10584 retinitis pigmentosa ISO RGD:1606135 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22177090|PMID:25515582|PMID:25741868|PMID:26355662|PMID:26854863|PMID:27008867|PMID:28492532|PMID:30029497|PMID:31456290 12415224 CFAP418 cilia and flagella associated protein 418 gene DOID:10584 retinitis pigmentosa ISO RGD:1606135 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22177090|PMID:25515582|PMID:25741868|PMID:25802487|PMID:26355662|PMID:26854863|PMID:26865426|PMID:27008867|PMID:28492532|PMID:30029497|PMID:31456290 12415224 CFAP418 cilia and flagella associated protein 418 gene DOID:8501 fundus dystrophy ISO RGD:1606135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 12415234 CCHCR1 coiled-coil alpha-helical rod protein 1 gene DOID:0050553 JMP syndrome ISO RGD:1349813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12415234 CCHCR1 coiled-coil alpha-helical rod protein 1 gene DOID:11372 megacolon ISO RGD:1349813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12415234 CCHCR1 coiled-coil alpha-helical rod protein 1 gene DOID:630 genetic disease ISO RGD:1349813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12415234 CCHCR1 coiled-coil alpha-helical rod protein 1 gene DOID:9538 multiple myeloma ISO RGD:1349813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23955597 12415240 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:0080600 COVID-19 ISO RGD:736845 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12415240 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:10652 Alzheimer's disease ISO RGD:736845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562|PMID:25741868 12415240 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:11832 visual epilepsy ISO RGD:621241 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus, temporal lobe PMID:12379262|REF_RGD_ID:1566572 12415240 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:224 transient cerebral ischemia ISO RGD:621241 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:16630594|REF_RGD_ID:9681747 12415240 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:2316 brain ischemia ISO RGD:621241 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:17073862|REF_RGD_ID:9681750 12415240 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19027488 12415240 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:5199 ureteral obstruction ISO RGD:621241 D RGD:9068941 20200609 RGD PMID:17583485|REF_RGD_ID:9681748 12415240 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:5200 urinary tract obstruction ISO RGD:733905 D RGD:9068941 20220825 MouseDO 12415240 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:736845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 12415240 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:5844 myocardial infarction ISO RGD:621241 D RGD:9068941 20200609 RGD PMID:15625312|REF_RGD_ID:9681751 12415240 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:630 genetic disease ISO RGD:736845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12415240 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19514085 12415240 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:621241 D RGD:9068941 20200609 RGD mRNA:increased expression:hypoglossal nerve PMID:11311987|REF_RGD_ID:5037239 12415240 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12415240 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23289900 12415240 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:9005930 Endotoxemia ISO RGD:621241 D RGD:9068941 20200609 RGD protein:increased expression:plasma, spleen PMID:23025351|REF_RGD_ID:9681752 12415240 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:621241 D RGD:9068941 20200609 RGD PMID:18272597|REF_RGD_ID:9684850 12415240 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23289900 12415262 MIR302A microRNA mir-302a gene DOID:12271 aniridia ISO RGD:1352230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 12415265 MIR103-2 microRNA mir-103-2 gene DOID:0050572 cone-rod dystrophy ISO RGD:1345954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 12415265 MIR103-2 microRNA mir-103-2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1345954 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12415265 MIR103-2 microRNA mir-103-2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1345954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:25741868|PMID:28492532 12415265 MIR103-2 microRNA mir-103-2 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1345954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 12415333 AQP1 aquaporin 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:70369 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12415333 AQP1 aquaporin 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12415333 AQP1 aquaporin 1 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:70369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 12415333 AQP1 aquaporin 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:2141 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, altered location:bile duct, epithelial cell PMID:18988797|REF_RGD_ID:2307071 12415333 AQP1 aquaporin 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 12415333 AQP1 aquaporin 1 gene DOID:10763 hypertension ISO RGD:2141 D RGD:9068941 20200609 RGD PMID:20156423|REF_RGD_ID:5148031 12415333 AQP1 aquaporin 1 gene DOID:10763 hypertension ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 12415333 AQP1 aquaporin 1 gene DOID:10908 hydrocephalus disease_progression ISO RGD:2141 D RGD:9068941 20200609 RGD PMID:21135737|REF_RGD_ID:5148011 12415333 AQP1 aquaporin 1 gene DOID:13141 uveitis ISO RGD:2141 D RGD:9068941 20200609 RGD PMID:20383338|REF_RGD_ID:5148029 12415333 AQP1 aquaporin 1 gene DOID:14115 toxic shock syndrome ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24028651 12415333 AQP1 aquaporin 1 gene DOID:1727 retinal vein occlusion ISO RGD:2141 D RGD:9068941 20200609 RGD PMID:21487926|REF_RGD_ID:5490120 12415333 AQP1 aquaporin 1 gene DOID:1824 status epilepticus ISO RGD:2141 D RGD:9068941 20200609 RGD PMID:19619613|REF_RGD_ID:2316077 12415333 AQP1 aquaporin 1 gene DOID:305 carcinoma ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12415333 AQP1 aquaporin 1 gene DOID:4724 brain edema ISO RGD:2141 D RGD:9068941 20200609 RGD associated with Anoxia PMID:21560328|REF_RGD_ID:5148033 12415333 AQP1 aquaporin 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:70369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12415333 AQP1 aquaporin 1 gene DOID:630 genetic disease ISO RGD:70369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12415333 AQP1 aquaporin 1 gene DOID:636 central pontine myelinolysis ISO RGD:70369 D RGD:9068941 20200609 RGD protein:altered expression:basal part of pons: PMID:24252214|REF_RGD_ID:8696006 12415333 AQP1 aquaporin 1 gene DOID:7998 hyperthyroidism ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12621104 12415333 AQP1 aquaporin 1 gene DOID:899 choledochal cyst ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 12415333 AQP1 aquaporin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2141 D RGD:9068941 20200609 RGD PMID:21092735|REF_RGD_ID:5148013 12415333 AQP1 aquaporin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2141 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, neuron, astrocyte PMID:18248364|REF_RGD_ID:2307072 12415333 AQP1 aquaporin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21092735 12415333 AQP1 aquaporin 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12415333 AQP1 aquaporin 1 gene DOID:9000641 Pain ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20018876 12415333 AQP1 aquaporin 1 gene DOID:9002860 Cardiac Edema ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22865611 12415333 AQP1 aquaporin 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12415333 AQP1 aquaporin 1 gene DOID:9004180 Aquaporin 1 Deficiency ISO RGD:70369 D RGD:7240710 20221130 OMIM 12415333 AQP1 aquaporin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12415333 AQP1 aquaporin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2141 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:19596320|REF_RGD_ID:2316078 12415333 AQP1 aquaporin 1 gene DOID:9351 diabetes mellitus ISO RGD:2141 D RGD:9068941 20200609 RGD protein:altered localization:retina PMID:19748503|REF_RGD_ID:2316076 12415341 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1318927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related 12415341 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1318927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy 12415341 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ISO RGD:1318928 D RGD:9068941 20220825 MouseDO OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 12415341 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1318927 D RGD:7240710 20180130 OMIM 12415341 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1318927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:12966029|PMID:15661757|PMID:16199547|PMID:17576681|PMID:17878207|PMID:18414213|PMID:19067344|PMID:21727005|PMID:24709677|PMID:25741868|PMID:26467025|PMID:27159402|PMID:28454995|PMID:28492532|PMID:28556411|PMID:9536098 12415341 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0111242 congenital muscular dystrophy-dystroglycanopathy type A6 ISO RGD:1318927 D RGD:7240710 20180130 OMIM 12415341 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0111242 congenital muscular dystrophy-dystroglycanopathy type A6 ISO RGD:1318927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 PMID:17436019|PMID:17878207|PMID:18414213|PMID:19067344|PMID:19299310|PMID:25741868|PMID:26467025|PMID:28492532 12415341 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1318927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 12415341 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:1318928 D RGD:9068941 20220825 MouseDO OMIM:158900 | OMIM:158901 12415341 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:630 genetic disease ISO RGD:1318927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12415341 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:670 amphetamine abuse ISO RGD:1318927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12415341 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:9004657 Weight Gain ISO RGD:1318927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12415341 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1318927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12415341 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:9884 muscular dystrophy ISO RGD:1318927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:17878207|PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 12415363 MRPL42 mitochondrial ribosomal protein L42 gene DOID:630 genetic disease ISO RGD:1312629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12415376 PCGF1 polycomb group ring finger 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1349943 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12415376 PCGF1 polycomb group ring finger 1 gene DOID:543 dystonia ISO RGD:1349943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12415376 PCGF1 polycomb group ring finger 1 gene DOID:630 genetic disease ISO RGD:1349943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12415376 PCGF1 polycomb group ring finger 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1349943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12415421 DYNC1LI1 dynein cytoplasmic 1 light intermediate chain 1 gene DOID:630 genetic disease ISO RGD:1606006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12415438 ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1348298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:16199547|PMID:17576681|PMID:24360803|PMID:24360807|PMID:24360808|PMID:25741868|PMID:26092869|PMID:28492532|PMID:9536098 12415438 ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:0111040 glycogen storage disease IXd ISO RGD:1348298 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXd PMID:25741868 12415438 ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:1059 intellectual disability ISO RGD:1348298 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:34113008 12415438 ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:1826 epilepsy ISO RGD:1348298 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:34113008 12415438 ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:2234 focal epilepsy ISO RGD:1348298 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868 12415438 ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:1348298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12415438 ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:9000526 DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES ISO RGD:1348298 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities PMID:25741868 12415438 ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348298 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:34113008 12415438 ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1348298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:34113008 12415438 ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:9008363 GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT ISO RGD:1348298 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay with or without impaired intellectual development PMID:25741868 12415438 ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:9008567 DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES ISO RGD:1348298 D RGD:7240710 20221207 OMIM 12415438 ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:9008567 DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES ISO RGD:1348298 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures PMID:25741868|PMID:34113008 12415481 HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733943 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12415481 HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733943 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12415481 HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:733943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12415481 HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12415481 HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1 gene DOID:630 genetic disease ISO RGD:733943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12415481 HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733943 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12415502 GNAI1 G protein subunit alpha i1 gene DOID:0060001 withdrawal disorder ISO RGD:730824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12199159 12415502 GNAI1 G protein subunit alpha i1 gene DOID:10914 amnestic disorder ISO RGD:730824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11350863 12415502 GNAI1 G protein subunit alpha i1 gene DOID:1826 epilepsy ISO RGD:730824 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461|PMID:25741868 12415502 GNAI1 G protein subunit alpha i1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:730824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12415502 GNAI1 G protein subunit alpha i1 gene DOID:630 genetic disease ISO RGD:730824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12415502 GNAI1 G protein subunit alpha i1 gene DOID:9002595 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES ISO RGD:730824 D RGD:7240710 20220706 OMIM 12415502 GNAI1 G protein subunit alpha i1 gene DOID:9002595 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES ISO RGD:730824 D RGD:8554872 20220705 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities PMID:25741868|PMID:28135719|PMID:33473207|PMID:34819662 12415502 GNAI1 G protein subunit alpha i1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730824 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33473207 12415513 ATP5MC3 ATP synthase membrane subunit c locus 3 gene DOID:0080600 COVID-19 ISO RGD:734314 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12415513 ATP5MC3 ATP synthase membrane subunit c locus 3 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:734314 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12415513 ATP5MC3 ATP synthase membrane subunit c locus 3 gene DOID:630 genetic disease ISO RGD:734314 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12415513 ATP5MC3 ATP synthase membrane subunit c locus 3 gene DOID:9000491 DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA ISO RGD:734314 D RGD:7240710 20220112 OMIM 12415513 ATP5MC3 ATP synthase membrane subunit c locus 3 gene DOID:9000491 DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA ISO RGD:734314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia PMID:19006192|PMID:34636445 12415522 NSUN7 NOP2/Sun RNA methyltransferase family member 7 gene DOID:12336 male infertility ISO RGD:1602865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17442852 12415522 NSUN7 NOP2/Sun RNA methyltransferase family member 7 gene DOID:630 genetic disease ISO RGD:1602865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12415522 NSUN7 NOP2/Sun RNA methyltransferase family member 7 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1602865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 12415538 NPM1 nucleophosmin 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:735682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia PMID:15659725|PMID:20026798|PMID:32581362 12415538 NPM1 nucleophosmin 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:735682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14508522|PMID:26285909 12415538 NPM1 nucleophosmin 1 gene DOID:0070004 myeloid neoplasm ISO RGD:11000 D RGD:9068941 20200609 RGD DNA:insertion mutation:cds:c.854_857dupTCTG(mouse) PMID:23226219|REF_RGD_ID:11534989 12415538 NPM1 nucleophosmin 1 gene DOID:10908 hydrocephalus ISO RGD:735682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 12415538 NPM1 nucleophosmin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:11000 D RGD:9068941 20200609 RGD protein:increased expression:cardiomyocyte: PMID:21444791|REF_RGD_ID:11535018 12415538 NPM1 nucleophosmin 1 gene DOID:2729 dyskeratosis congenita ISO RGD:735682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31570891 12415538 NPM1 nucleophosmin 1 gene DOID:3910 lung adenocarcinoma ISO RGD:735682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12415538 NPM1 nucleophosmin 1 gene DOID:5844 myocardial infarction ISO RGD:11000 D RGD:9068941 20200609 RGD protein:increased expression:cardiomyocyte: PMID:21444791|REF_RGD_ID:11535018 12415538 NPM1 nucleophosmin 1 gene DOID:630 genetic disease ISO RGD:735682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12415538 NPM1 nucleophosmin 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10619186 12415538 NPM1 nucleophosmin 1 gene DOID:9000647 Acute Erythroleukemia ISO RGD:735682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 12415538 NPM1 nucleophosmin 1 gene DOID:9006205 Animal Disease Models ISO RGD:735682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12415538 NPM1 nucleophosmin 1 gene DOID:9008691 Liver Injury disease_progression ISO RGD:3192 D RGD:9068941 20200609 RGD protein:increased expression:nucleus,cytoplasm: PMID:14635188|REF_RGD_ID:11534994 12415538 NPM1 nucleophosmin 1 gene DOID:9119 acute myeloid leukemia ISO RGD:735682 D RGD:7240710 20180130 OMIM 12415538 NPM1 nucleophosmin 1 gene DOID:9119 acute myeloid leukemia ISO RGD:735682 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:15659725|PMID:19657110|PMID:20026798|PMID:25741868|PMID:28492532|PMID:32581362 12415538 NPM1 nucleophosmin 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:735682 D RGD:9068941 20200609 RGD PMID:25992555|REF_RGD_ID:11070453 12415538 NPM1 nucleophosmin 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:735682 D RGD:9068941 20200609 RGD DNA:mutation:exon: PMID:17957027|REF_RGD_ID:11049474 12415538 NPM1 nucleophosmin 1 gene DOID:9119 acute myeloid leukemia onset ISO RGD:11000 D RGD:9068941 20200609 RGD PMID:21441929|REF_RGD_ID:11534990 12415553 SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1605688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12415553 SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1605688 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12415553 SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1605688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12415553 SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1605688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12415553 SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1605688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12415553 SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0110994 Joubert syndrome 25 ISO RGD:1605688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12415553 SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0111934 immunodeficiency 38 ISO RGD:1605688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12415553 SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0111935 immunodeficiency 16 ISO RGD:1605688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12415553 SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12415553 SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12415553 SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1605688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12415553 SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1605688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12415562 TSR3 TSR3 ribosome maturation factor gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1352414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12415562 TSR3 TSR3 ribosome maturation factor gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1352414 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12415562 TSR3 TSR3 ribosome maturation factor gene DOID:1826 epilepsy ISO RGD:1352414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12415562 TSR3 TSR3 ribosome maturation factor gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1352414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12415562 TSR3 TSR3 ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1352414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12415572 LRP1 LDL receptor related protein 1 gene DOID:0050700 cardiomyopathy ISO RGD:1316787 D RGD:9068941 20220825 MouseDO 12415572 LRP1 LDL receptor related protein 1 gene DOID:0050855 renal fibrosis ISO RGD:1316787 D RGD:9068941 20200609 RGD PMID:18037995|REF_RGD_ID:7243102 12415572 LRP1 LDL receptor related protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1316786 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12415572 LRP1 LDL receptor related protein 1 gene DOID:0060327 omphalocele ISO RGD:1316787 D RGD:9068941 20220825 MouseDO OMIM:164750 12415572 LRP1 LDL receptor related protein 1 gene DOID:0080169 tricuspid atresia ISO RGD:1316786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tricuspid atresia PMID:25741868 12415572 LRP1 LDL receptor related protein 1 gene DOID:0080751 keratosis pilaris atrophicans ISO RGD:1316786 D RGD:7240710 20190315 OMIM 12415572 LRP1 LDL receptor related protein 1 gene DOID:10283 prostate cancer ISO RGD:1316786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12415572 LRP1 LDL receptor related protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:1316786 D RGD:9068941 20200609 RGD DNA:SNP:exon 3:C>T (human) PMID:9635959|REF_RGD_ID:1358747 12415572 LRP1 LDL receptor related protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:1316787 D RGD:9068941 20200609 RGD PMID:19150622|REF_RGD_ID:13800553 12415572 LRP1 LDL receptor related protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:1316787 D RGD:9068941 20220825 MouseDO OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 12415572 LRP1 LDL receptor related protein 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:1307535 D RGD:9068941 20200609 RGD PMID:29115637|REF_RGD_ID:13799352 12415572 LRP1 LDL receptor related protein 1 gene DOID:11044 gastroschisis ISO RGD:1316787 D RGD:9068941 20220825 MouseDO OMIM:230750 12415572 LRP1 LDL receptor related protein 1 gene DOID:11446 sciatic neuropathy ISO RGD:1307535 D RGD:9068941 20200609 RGD PMID:26656067|REF_RGD_ID:13792690 12415572 LRP1 LDL receptor related protein 1 gene DOID:11446 sciatic neuropathy treatment ISO RGD:1316786 D RGD:9068941 20200609 RGD PMID:18060043|REF_RGD_ID:13800561 12415572 LRP1 LDL receptor related protein 1 gene DOID:12783 migraine without aura ISO RGD:1316786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683712 12415572 LRP1 LDL receptor related protein 1 gene DOID:2349 arteriosclerosis ISO RGD:1316787 D RGD:9068941 20200609 RGD PMID:14739216|REF_RGD_ID:1581910 12415572 LRP1 LDL receptor related protein 1 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:1316787 D RGD:9068941 20200609 RGD associated with Hypercholesterolemia PMID:17303763|REF_RGD_ID:1625012 12415572 LRP1 LDL receptor related protein 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1316787 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 12415572 LRP1 LDL receptor related protein 1 gene DOID:5419 schizophrenia ISO RGD:1316786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 12415572 LRP1 LDL receptor related protein 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1316786 D RGD:9068941 20200609 RGD PMID:12402342|REF_RGD_ID:1581913 12415572 LRP1 LDL receptor related protein 1 gene DOID:630 genetic disease ISO RGD:1316786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12415572 LRP1 LDL receptor related protein 1 gene DOID:6364 migraine ISO RGD:1316786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21666692 12415572 LRP1 LDL receptor related protein 1 gene DOID:6846 familial melanoma ISO RGD:1316786 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 12415572 LRP1 LDL receptor related protein 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:1307535 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:14623925|REF_RGD_ID:1625030 12415572 LRP1 LDL receptor related protein 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1307535 D RGD:9068941 20200609 RGD PMID:23867460|REF_RGD_ID:13800520 12415572 LRP1 LDL receptor related protein 1 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1316786 D RGD:9068941 20200609 RGD PMID:15121769|REF_RGD_ID:1581911 12415572 LRP1 LDL receptor related protein 1 gene DOID:9000847 Burnett Schwartz Berberian Syndrome ISO RGD:1316786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrophodermia vermiculata | ClinVar Annotator: match by term: Keratosis pilaris PMID:25741868|PMID:26142438|PMID:28381441 12415572 LRP1 LDL receptor related protein 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1316787 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum, spinal cord PMID:19299462|REF_RGD_ID:13800552 12415572 LRP1 LDL receptor related protein 1 gene DOID:9004590 Acute Liver Failure ISO RGD:1316787 D RGD:9068941 20200609 RGD associated with Carbon Tetrachloride Poisoning PMID:26237273|REF_RGD_ID:13800515 12415572 LRP1 LDL receptor related protein 1 gene DOID:9007748 Retinal Neovascularization ISO RGD:1307535 D RGD:9068941 20200609 RGD protein:increased expression:retina, muller cell PMID:16979164|REF_RGD_ID:1625022 12415572 LRP1 LDL receptor related protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1316786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12415572 LRP1 LDL receptor related protein 1 gene DOID:9008582 Developmental Disease ISO RGD:1316786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:15294142|PMID:25741868 12415572 LRP1 LDL receptor related protein 1 gene DOID:9351 diabetes mellitus treatment ISO RGD:1307535 D RGD:9068941 20200609 RGD PMID:22889684|REF_RGD_ID:13800521 12415668 TNFAIP8L2 TNF alpha induced protein 8 like 2 gene DOID:0080422 Dravet syndrome ISO RGD:1606238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 12415668 TNFAIP8L2 TNF alpha induced protein 8 like 2 gene DOID:0080600 COVID-19 ISO RGD:1606238 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12415668 TNFAIP8L2 TNF alpha induced protein 8 like 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12415668 TNFAIP8L2 TNF alpha induced protein 8 like 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12415668 TNFAIP8L2 TNF alpha induced protein 8 like 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606238 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12415668 TNFAIP8L2 TNF alpha induced protein 8 like 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1606238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12415668 TNFAIP8L2 TNF alpha induced protein 8 like 2 gene DOID:5812 MHC class II deficiency ISO RGD:1606238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12415668 TNFAIP8L2 TNF alpha induced protein 8 like 2 gene DOID:630 genetic disease ISO RGD:1606238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12415668 TNFAIP8L2 TNF alpha induced protein 8 like 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12415678 PHLDB3 pleckstrin homology like domain family B member 3 gene DOID:5419 schizophrenia ISO RGD:1345533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12415678 PHLDB3 pleckstrin homology like domain family B member 3 gene DOID:630 genetic disease ISO RGD:1345533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12415698 GRIK5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:0050888 syndromic intellectual disability ISO RGD:730907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 12415698 GRIK5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:11832 visual epilepsy ISO RGD:2735 D RGD:9068941 20200609 RGD PMID:12080343|REF_RGD_ID:625595 12415698 GRIK5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:730907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12415698 GRIK5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:1342 congenital hypoplastic anemia ISO RGD:730907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12415698 GRIK5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:2340 craniosynostosis ISO RGD:730907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:28492532 12415698 GRIK5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:3328 temporal lobe epilepsy ISO RGD:2735 D RGD:9068941 20200609 RGD protein:decreased expression:forebrain, postsynaptic density PMID:11226670|REF_RGD_ID:5147998 12415698 GRIK5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:3328 temporal lobe epilepsy ISO RGD:730907 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:9848088|REF_RGD_ID:2316538 12415698 GRIK5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:5419 schizophrenia ISO RGD:730907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12415698 GRIK5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:630 genetic disease ISO RGD:730907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12415698 GRIK5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:730907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12415698 GRIK5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:9004009 Reperfusion Injury ISO RGD:2735 D RGD:9068941 20200609 RGD PMID:17639597|REF_RGD_ID:2316528 12415698 GRIK5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:9269 maple syrup urine disease ISO RGD:730907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12415726 RCBTB1 RCC1 and BTB domain containing protein 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1318252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12415726 RCBTB1 RCC1 and BTB domain containing protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1318252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:27486781|PMID:28492532 12415726 RCBTB1 RCC1 and BTB domain containing protein 1 gene DOID:1059 intellectual disability ISO RGD:1318252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12415726 RCBTB1 RCC1 and BTB domain containing protein 1 gene DOID:630 genetic disease ISO RGD:1318252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12415726 RCBTB1 RCC1 and BTB domain containing protein 1 gene DOID:7736 retinal telangiectasia ISO RGD:1318252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal telangiectasis PMID:25741868|PMID:26908610|PMID:28492532|PMID:31494449 12415726 RCBTB1 RCC1 and BTB domain containing protein 1 gene DOID:7765 Coats disease ISO RGD:1318252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coats disease | ClinVar Annotator: match by term: Exudative retinopathy PMID:25741868|PMID:26908610|PMID:28492532|PMID:31494449 12415726 RCBTB1 RCC1 and BTB domain containing protein 1 gene DOID:9002248 RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES ISO RGD:1318252 D RGD:7240710 20190315 OMIM 12415726 RCBTB1 RCC1 and BTB domain containing protein 1 gene DOID:9002248 RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES ISO RGD:1318252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES | ClinVar Annotator: match by term: Retinal dystrophy with or without extraocular anomalies PMID:25741868|PMID:26908610|PMID:27486781|PMID:28492532|PMID:31494449 12415746 HDAC1 histone deacetylase 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1320330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28963909 12415746 HDAC1 histone deacetylase 1 gene DOID:114 heart disease ISO RGD:1320330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18625706 12415746 HDAC1 histone deacetylase 1 gene DOID:12858 Huntington's disease ISO RGD:1320331 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:22965876|REF_RGD_ID:10402189 12415746 HDAC1 histone deacetylase 1 gene DOID:12858 Huntington's disease ISO RGD:1320331 D RGD:9068941 20200609 RGD protein:increased expression:striatum: PMID:22918830|REF_RGD_ID:9590098 12415746 HDAC1 histone deacetylase 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1320330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22711276 12415746 HDAC1 histone deacetylase 1 gene DOID:1686 glaucoma ISO RGD:1309799 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (rat) PMID:28990066|REF_RGD_ID:155630605 12415746 HDAC1 histone deacetylase 1 gene DOID:1686 glaucoma ISO RGD:1320330 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (human) PMID:28990066|REF_RGD_ID:155630605 12415746 HDAC1 histone deacetylase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1320330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21527555 12415746 HDAC1 histone deacetylase 1 gene DOID:2377 multiple sclerosis ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:cytoplasm: PMID:20037577|REF_RGD_ID:9590131 12415746 HDAC1 histone deacetylase 1 gene DOID:289 endometriosis ISO RGD:1320330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12415746 HDAC1 histone deacetylase 1 gene DOID:3213 demyelinating disease ISO RGD:1320331 D RGD:9068941 20200609 RGD protein:increased expression:cytoplasm: PMID:20037577|REF_RGD_ID:9590131 12415746 HDAC1 histone deacetylase 1 gene DOID:3459 breast carcinoma ISO RGD:1320330 D RGD:9068941 20200609 RGD PMID:16172792|REF_RGD_ID:2306216 12415746 HDAC1 histone deacetylase 1 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19424621|REF_RGD_ID:9588974 12415746 HDAC1 histone deacetylase 1 gene DOID:630 genetic disease ISO RGD:1320330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12415746 HDAC1 histone deacetylase 1 gene DOID:6432 pulmonary hypertension ISO RGD:1309799 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:22711276|REF_RGD_ID:9590133 12415746 HDAC1 histone deacetylase 1 gene DOID:6432 pulmonary hypertension ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:22711276|REF_RGD_ID:9590133 12415746 HDAC1 histone deacetylase 1 gene DOID:680 tauopathy ISO RGD:1320331 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:22918830|REF_RGD_ID:9590098 12415746 HDAC1 histone deacetylase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1320330 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:32289289 12415746 HDAC1 histone deacetylase 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:15042618|REF_RGD_ID:2306219 12415746 HDAC1 histone deacetylase 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19147762|REF_RGD_ID:2306200 12415746 HDAC1 histone deacetylase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1309799 D RGD:9068941 20200609 RGD PMID:18464933|REF_RGD_ID:2311214 12415746 HDAC1 histone deacetylase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1309799 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland: PMID:24717552|REF_RGD_ID:9590296 12415746 HDAC1 histone deacetylase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1309799 D RGD:9068941 20200609 RGD protein:decreased expression, decreased activity:hippocampus: PMID:16380407|REF_RGD_ID:9588242 12415746 HDAC1 histone deacetylase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:15042618|PMID:18212746|REF_RGD_ID:2306214|REF_RGD_ID:2306219 12415746 HDAC1 histone deacetylase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17387270|REF_RGD_ID:2306215 12415746 HDAC1 histone deacetylase 1 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1320330 D RGD:9068941 20200609 RGD PMID:18714364|REF_RGD_ID:2306205 12415746 HDAC1 histone deacetylase 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19147762|REF_RGD_ID:2306200 12415746 HDAC1 histone deacetylase 1 gene DOID:9004078 Pancreatic Intraepithelial Neoplasia ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19424621|REF_RGD_ID:9588974 12415746 HDAC1 histone deacetylase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309799 D RGD:9068941 20200609 RGD protein:increased activity:renal cortex: PMID:19553350|REF_RGD_ID:9590229 12415746 HDAC1 histone deacetylase 1 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1309799 D RGD:9068941 20200609 RGD protein:increased expression:Right Ventricular: PMID:22711276|REF_RGD_ID:9590133 12415746 HDAC1 histone deacetylase 1 gene DOID:9007096 Stroke ISO RGD:1309799 D RGD:9068941 20200609 RGD PMID:24657831|REF_RGD_ID:9590303 12415746 HDAC1 histone deacetylase 1 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:1320330 D RGD:9068941 20200609 RGD PMID:18714364|REF_RGD_ID:2306205 12415746 HDAC1 histone deacetylase 1 gene DOID:9256 colorectal cancer ISO RGD:1320330 D RGD:9068941 20200609 RGD mRNA:increased expression:colon: PMID:23724067|REF_RGD_ID:9590193 12415746 HDAC1 histone deacetylase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1320331 D RGD:9068941 20200609 RGD protein:increased activity:kidney: PMID:19553350|REF_RGD_ID:9590229 12415746 HDAC1 histone deacetylase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic beta cell: PMID:22772764|REF_RGD_ID:9590127 12415746 HDAC1 histone deacetylase 1 gene DOID:986 alopecia areata ISO RGD:1320330 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell: PMID:21936853|REF_RGD_ID:9587460 12415746 HDAC1 histone deacetylase 1 gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:1320330 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow,blood: PMID:23948281|REF_RGD_ID:9681454 12415764 SERINC4 serine incorporator 4 gene DOID:2717 Bloom syndrome ISO RGD:1606056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12415764 SERINC4 serine incorporator 4 gene DOID:9256 colorectal cancer ISO RGD:1606056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12415780 SPG21 SPG21 abhydrolase domain containing, maspardin gene DOID:0060245 MAST syndrome ISO RGD:1351182 D RGD:7240710 20180130 OMIM 12415780 SPG21 SPG21 abhydrolase domain containing, maspardin gene DOID:0060245 MAST syndrome ISO RGD:1351182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mast syndrome PMID:14564668|PMID:16199547|PMID:17576681|PMID:24451228|PMID:25741868|PMID:26467025|PMID:28492532|PMID:6024251|PMID:9536098 12415780 SPG21 SPG21 abhydrolase domain containing, maspardin gene DOID:0110935 nemaline myopathy 6 ISO RGD:1351182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055|PMID:28492532 12415780 SPG21 SPG21 abhydrolase domain containing, maspardin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1351182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:14564668|PMID:16199547|PMID:25741868|PMID:26467025|PMID:28492532 12415780 SPG21 SPG21 abhydrolase domain containing, maspardin gene DOID:2476 hereditary spastic paraplegia susceptibility ISO RGD:1351182 D RGD:9068941 20200609 RGD PMID:14564668|REF_RGD_ID:1556574 12415780 SPG21 SPG21 abhydrolase domain containing, maspardin gene DOID:2717 Bloom syndrome ISO RGD:1351182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12415780 SPG21 SPG21 abhydrolase domain containing, maspardin gene DOID:630 genetic disease ISO RGD:1351182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12415780 SPG21 SPG21 abhydrolase domain containing, maspardin gene DOID:9256 colorectal cancer ISO RGD:1351182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12415810 ZNF287 zinc finger protein 287 gene DOID:10283 prostate cancer ISO RGD:1318494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12415810 ZNF287 zinc finger protein 287 gene DOID:630 genetic disease ISO RGD:1318494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12415834 C5H1orf87 chromosome 5 C1orf87 homolog gene DOID:1059 intellectual disability ISO RGD:1602983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12415834 C5H1orf87 chromosome 5 C1orf87 homolog gene DOID:630 genetic disease ISO RGD:1602983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12415864 MICALL2 MICAL like 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1605936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1 12415864 MICALL2 MICAL like 2 gene DOID:630 genetic disease ISO RGD:1605936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12415884 TXNDC2 thioredoxin domain containing 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1352753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 12415884 TXNDC2 thioredoxin domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1352753 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12415884 TXNDC2 thioredoxin domain containing 2 gene DOID:543 dystonia ISO RGD:1352753 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 12415884 TXNDC2 thioredoxin domain containing 2 gene DOID:630 genetic disease ISO RGD:1352753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12415891 SPRY3 sprouty RTK signaling antagonist 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1349769 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12415891 SPRY3 sprouty RTK signaling antagonist 3 gene DOID:12849 autistic disorder ISO RGD:1349769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Epsilon-trimethyllysine hydroxylase deficiency PMID:21681106|PMID:21865298|PMID:22566635|PMID:23092983|PMID:30208311 12415891 SPRY3 sprouty RTK signaling antagonist 3 gene DOID:3070 high grade glioma ISO RGD:1349769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ependymoma PMID:29276006 12415891 SPRY3 sprouty RTK signaling antagonist 3 gene DOID:9002720 Splenomegaly ISO RGD:1349769 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12415904 ASB14 ankyrin repeat and SOCS box containing 14 gene DOID:0060857 septooptic dysplasia ISO RGD:1343044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:28492532|PMID:32796691 12415904 ASB14 ankyrin repeat and SOCS box containing 14 gene DOID:0111111 maturity-onset diabetes of the young type 14 ISO RGD:1343044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 14 PMID:25741868|PMID:28492532 12415904 ASB14 ankyrin repeat and SOCS box containing 14 gene DOID:630 genetic disease ISO RGD:1343044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12415904 ASB14 ankyrin repeat and SOCS box containing 14 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1343044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 12415936 GTPBP8 GTP binding protein 8 (putative) gene DOID:630 genetic disease ISO RGD:1606015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12415949 SLC16A13 solute carrier family 16 member 13 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1354212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12415949 SLC16A13 solute carrier family 16 member 13 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1354212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 12415949 SLC16A13 solute carrier family 16 member 13 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1354212 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12415949 SLC16A13 solute carrier family 16 member 13 gene DOID:12177 common variable immunodeficiency ISO RGD:1354212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12415949 SLC16A13 solute carrier family 16 member 13 gene DOID:2729 dyskeratosis congenita ISO RGD:1354212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12415949 SLC16A13 solute carrier family 16 member 13 gene DOID:630 genetic disease ISO RGD:1354212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12415958 TMEM54 transmembrane protein 54 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12415958 TMEM54 transmembrane protein 54 gene DOID:630 genetic disease ISO RGD:1606187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12415978 ALDH4A1 aldehyde dehydrogenase 4 family member A1 gene DOID:0060041 autism spectrum disorder ISO RGD:1346272 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12415978 ALDH4A1 aldehyde dehydrogenase 4 family member A1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1346272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12415978 ALDH4A1 aldehyde dehydrogenase 4 family member A1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1346272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12415978 ALDH4A1 aldehyde dehydrogenase 4 family member A1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1346272 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12415978 ALDH4A1 aldehyde dehydrogenase 4 family member A1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1346272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29718361 12415978 ALDH4A1 aldehyde dehydrogenase 4 family member A1 gene DOID:0080541 hyperprolinemia ISO RGD:1346272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperprolinemia 12415978 ALDH4A1 aldehyde dehydrogenase 4 family member A1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1346272 D RGD:7240710 20180130 OMIM 12415978 ALDH4A1 aldehyde dehydrogenase 4 family member A1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1346272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:17576681|PMID:25741868|PMID:2624476|PMID:26822237|PMID:28492532|PMID:9536098|PMID:9700195 12415978 ALDH4A1 aldehyde dehydrogenase 4 family member A1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1346272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12415978 ALDH4A1 aldehyde dehydrogenase 4 family member A1 gene DOID:0080600 COVID-19 ISO RGD:1346272 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12415978 ALDH4A1 aldehyde dehydrogenase 4 family member A1 gene DOID:1059 intellectual disability ISO RGD:1346272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12415978 ALDH4A1 aldehyde dehydrogenase 4 family member A1 gene DOID:630 genetic disease ISO RGD:1346272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12415978 ALDH4A1 aldehyde dehydrogenase 4 family member A1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1346272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:0050572 cone-rod dystrophy ISO RGD:1350040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:11076946|PMID:11371515|PMID:11730668|PMID:11751691|PMID:11843698|PMID:11925565|PMID:1436530|PMID:14998933|PMID:1539598|PMID:1550128|PMID:17452590|PMID:19667215|PMID:2137962|PMID:24088041|PMID:25741868|PMID:26633545|PMID:32313153|PMID:32906214|PMID:8042671|PMID:8095070|PMID:8250532|PMID:8395787|PMID:9199572|PMID:9329425|PMID:9556461|PMID:9883875 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:0050753 cerebellar ataxia ISO RGD:1350040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:11076946|PMID:11371515|PMID:11730668|PMID:11751691|PMID:11843698|PMID:11925565|PMID:1436530|PMID:14998933|PMID:1539598|PMID:1550128|PMID:17452590|PMID:19667215|PMID:2137962|PMID:24088041|PMID:24986921|PMID:25741868|PMID:26633545|PMID:32313153|PMID:32581362|PMID:32906214|PMID:8042671|PMID:8095070|PMID:8250532|PMID:8395787|PMID:9199572|PMID:9329425|PMID:9556461|PMID:9883875 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:0060067 Pearson syndrome ISO RGD:1350040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pearson syndrome 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:0080198 infantile histiocytoid cardiomyopathy ISO RGD:1350040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Foamy myocardial transformation of infancy PMID:19188198|PMID:26803244 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1350040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve PMID:18495510 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:0111184 myopathy, lactic acidosis, and sideroblastic anemia 3 ISO RGD:1350040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 3 PMID:25037980|PMID:27812026|PMID:29350304 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:0111273 NARP syndrome ISO RGD:1350040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NARP syndrome PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:11076946|PMID:11371515|PMID:11730668|PMID:11751691|PMID:11843698|PMID:11916326|PMID:11925565|PMID:1436530|PMID:14998933|PMID:1539598|PMID:1550128|PMID:16049925|PMID:17452590|PMID:18055910|PMID:19124644|PMID:19667215|PMID:2137962|PMID:24088041|PMID:25741868|PMID:26633545|PMID:32313153|PMID:32906214|PMID:3612192|PMID:8042671|PMID:8095070|PMID:8190310|PMID:8250532|PMID:8395787|PMID:8602753|PMID:8644724|PMID:8750605|PMID:9199572|PMID:9329425|PMID:9556461|PMID:9568930|PMID:9762610|PMID:9883875 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:0111748 mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 ISO RGD:1350040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Mitochondrial complex v (atp synthase) deficiency, mitochondrial type 1 PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:11076946|PMID:11119722|PMID:11245730|PMID:11371515|PMID:11382202|PMID:11730668|PMID:11731285|PMID:11751691|PMID:11843698|PMID:11916326|PMID:11925565|PMID:1436530|PMID:14998933|PMID:1539598|PMID:1550128|PMID:16049925|PMID:16217706|PMID:17352390|PMID:17452590|PMID:18055910|PMID:18461509|PMID:19160410|PMID:19454486|PMID:19667215|PMID:20056103|PMID:2137962|PMID:22933740|PMID:24088041|PMID:25741868|PMID:26633545|PMID:32313153|PMID:32906214|PMID:3612192|PMID:7668837|PMID:8042671|PMID:8095070|PMID:8190310|PMID:8250532|PMID:8395787|PMID:8602753|PMID:8644724|PMID:8750605|PMID:9199572|PMID:9270604|PMID:9329425|PMID:9501263|PMID:9556461|PMID:9568930|PMID:9631394|PMID:9762610|PMID:9883875 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:0111750 adult-onset ataxia and polyneuropathy ISO RGD:1350040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia and polyneuropathy, adult-onset PMID:11916326|PMID:16049925|PMID:18055910|PMID:25741868|PMID:32906214|PMID:3612192|PMID:8190310|PMID:8395787|PMID:8602753|PMID:8644724|PMID:8750605|PMID:9568930|PMID:9762610 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:0111753 infantile hypertrophic cardiomyopathy ISO RGD:1350040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, infantile hypertrophic PMID:19188198|PMID:26803244 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1350040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:16217706|PMID:17352390|PMID:18461509|PMID:22933740|PMID:25741868 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:10603 glucose intolerance ISO RGD:1350040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18273840 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:12930 dilated cardiomyopathy ISO RGD:1350040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24088041|PMID:26633545 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:12934 Kearns-Sayre syndrome ISO RGD:1350040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kearns-Sayre syndrome PMID:20301382 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1350040 D RGD:9068941 20200609 RGD DNA:SNP:cds:m.9055A>G (human) PMID:12618962|REF_RGD_ID:5490292 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:14791 Leber congenital amaurosis ISO RGD:1350040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's disease PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:11076946|PMID:11119722|PMID:11245730|PMID:11371515|PMID:11382202|PMID:11730668|PMID:11731285|PMID:11751691|PMID:11843698|PMID:11916326|PMID:11925565|PMID:1436530|PMID:14998933|PMID:1539598|PMID:1550128|PMID:16049925|PMID:16217706|PMID:17352390|PMID:17452590|PMID:18055910|PMID:18461509|PMID:19160410|PMID:19454486|PMID:19626676|PMID:19667215|PMID:20056103|PMID:2137962|PMID:22577227|PMID:22933740|PMID:24088041|PMID:25741868|PMID:26633545|PMID:32313153|PMID:32906214|PMID:3612192|PMID:7668837|PMID:8042671|PMID:8095070|PMID:8190310|PMID:8250532|PMID:8395787|PMID:8602753|PMID:8644724|PMID:8750605|PMID:9199572|PMID:9270604|PMID:9329425|PMID:9501263|PMID:9556461|PMID:9568930|PMID:9631394|PMID:9762610|PMID:9883875 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:14791 Leber congenital amaurosis ISO RGD:1350040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leber's disease PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:11076946|PMID:11119722|PMID:11245730|PMID:11371515|PMID:11382202|PMID:11730668|PMID:11731285|PMID:11751691|PMID:11843698|PMID:11916326|PMID:11925565|PMID:1436530|PMID:14998933|PMID:1539598|PMID:1550128|PMID:16049925|PMID:16217706|PMID:17352390|PMID:17452590|PMID:18055910|PMID:18461509|PMID:19160410|PMID:19454486|PMID:19626676|PMID:19667215|PMID:20056103|PMID:2137962|PMID:22577227|PMID:22933740|PMID:24088041|PMID:25741868|PMID:26633545|PMID:31187502|PMID:31379041|PMID:31461494|PMID:32042921|PMID:32313153|PMID:32906214|PMID:35159298|PMID:3612192|PMID:7668837|PMID:8042671|PMID:8095070|PMID:8190310|PMID:8250532|PMID:8395787|PMID:8602753|PMID:8644724|PMID:8750605|PMID:9199572|PMID:9270604|PMID:9329425|PMID:9501263|PMID:9556461|PMID:9568930|PMID:9631394|PMID:9762610|PMID:9883875 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:1891 optic nerve disease ISO RGD:1350040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic neuropathy PMID:28027978 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:2377 multiple sclerosis ISO RGD:1350040 D RGD:9068941 20200609 RGD DNA:point mutations: :m.8697G>A, m.8684C>T, m.8856G>A (human) PMID:17619138|REF_RGD_ID:5490263 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:2377 multiple sclerosis ISO RGD:1350040 D RGD:9068941 20200609 RGD DNA:transition:cds:m.9055A>G (human) PMID:18708297|REF_RGD_ID:5490259 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:3650 lactic acidosis ISO RGD:1350040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizures and lactic acidosis PMID:12915481|PMID:8739943 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:3652 Leigh disease ISO RGD:1350040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:11076946|PMID:11119722|PMID:11245730|PMID:11371515|PMID:11382202|PMID:11730668|PMID:11731285|PMID:11751691|PMID:11843698|PMID:11916326|PMID:11925565|PMID:1436530|PMID:14697245|PMID:14998933|PMID:15120634|PMID:1539598|PMID:1550128|PMID:16049925|PMID:16050984|PMID:16217706|PMID:17123466|PMID:17352390|PMID:17452590|PMID:17663470|PMID:18055910|PMID:18216301|PMID:18461509|PMID:18495510|PMID:18682780|PMID:19454486|PMID:19626676|PMID:19667215|PMID:20211276|PMID:20301353|PMID:2137962|PMID:22110754|PMID:22231385|PMID:22577227|PMID:22789932|PMID:22933740|PMID:23206802|PMID:23266623|PMID:23304069|PMID:24002810|PMID:24088041|PMID:24104924|PMID:24118886|PMID:24986921|PMID:25489354|PMID:25741868|PMID:26633545|PMID:26993169|PMID:28027978|PMID:29307858|PMID:30143805|PMID:32313153|PMID:32461654|PMID:32581362|PMID:32906214|PMID:3612192|PMID:7668837|PMID:7726182|PMID:8042671|PMID:8095070|PMID:8190310|PMID:8250532|PMID:8395787|PMID:8554662|PMID:8602753|PMID:8630495|PMID:8644724|PMID:8750605|PMID:9199572|PMID:9270604|PMID:9329425|PMID:9501263|PMID:9556461|PMID:9568930|PMID:9631394|PMID:9762610|PMID:9883875 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:3652 Leigh disease ISO RGD:1350040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:11076946|PMID:11119722|PMID:11245730|PMID:11371515|PMID:11382202|PMID:11730668|PMID:11731285|PMID:11751691|PMID:11843698|PMID:11916326|PMID:11925565|PMID:1436530|PMID:14697245|PMID:14998933|PMID:15120634|PMID:1539598|PMID:1550128|PMID:16049925|PMID:16050984|PMID:16217706|PMID:17123466|PMID:17352390|PMID:17452590|PMID:17663470|PMID:18055910|PMID:18216301|PMID:18461509|PMID:18495510|PMID:18682780|PMID:19160410|PMID:19454486|PMID:19626676|PMID:19667215|PMID:20056103|PMID:20211276|PMID:20301353|PMID:2137962|PMID:22110754|PMID:22231385|PMID:22577227|PMID:22789932|PMID:22933740|PMID:23206802|PMID:23266623|PMID:23304069|PMID:24002810|PMID:24088041|PMID:24104924|PMID:24118886|PMID:24316278|PMID:24986921|PMID:25489354|PMID:25741868|PMID:26633545|PMID:26993169|PMID:28027978|PMID:29307858|PMID:30143805|PMID:31181185|PMID:31187502|PMID:31379041|PMID:31461494|PMID:32042921|PMID:32313153|PMID:32461654|PMID:32581362|PMID:32906214|PMID:35159298|PMID:3612192|PMID:7668837|PMID:7726182|PMID:8042671|PMID:8095070|PMID:8190310|PMID:8250532|PMID:8395787|PMID:8554662|PMID:8602753|PMID:8630495|PMID:8644724|PMID:8750605|PMID:9199572|PMID:9270604|PMID:9329425|PMID:9501263|PMID:9556461|PMID:9568930|PMID:9631394|PMID:9762610|PMID:9883875 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:3687 MELAS syndrome ISO RGD:1350040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke PMID:25037980|PMID:27812026|PMID:29350304 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:700 mitochondrial metabolism disease ISO RGD:1350040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:11076946|PMID:11119722|PMID:11245730|PMID:11371515|PMID:11382202|PMID:11730668|PMID:11731285|PMID:11751691|PMID:11843698|PMID:11916326|PMID:11925565|PMID:1436530|PMID:14998933|PMID:1539598|PMID:1550128|PMID:16049925|PMID:16217706|PMID:17352390|PMID:17452590|PMID:17663470|PMID:18055910|PMID:18461509|PMID:19160410|PMID:19454486|PMID:19667215|PMID:20301382|PMID:2137962|PMID:22789932|PMID:22933740|PMID:23206802|PMID:24002810|PMID:24088041|PMID:24104924|PMID:24118886|PMID:24316278|PMID:24986921|PMID:25489354|PMID:25741868|PMID:26633545|PMID:28027978|PMID:31181185|PMID:32313153|PMID:32461654|PMID:32581362|PMID:32906214|PMID:3612192|PMID:8042671|PMID:8095070|PMID:8190310|PMID:8250532|PMID:8395787|PMID:8554662|PMID:8602753|PMID:8644724|PMID:8750605|PMID:9199572|PMID:9329425|PMID:9556461|PMID:9568930|PMID:9762610|PMID:9883875 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:700 mitochondrial metabolism disease ISO RGD:1350040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:11076946|PMID:11119722|PMID:11245730|PMID:11371515|PMID:11382202|PMID:11730668|PMID:11731285|PMID:11751691|PMID:11843698|PMID:11916326|PMID:11925565|PMID:12915481|PMID:1436530|PMID:14998933|PMID:1539598|PMID:1550128|PMID:16049925|PMID:16217706|PMID:17352390|PMID:17452590|PMID:17663470|PMID:18055910|PMID:18461509|PMID:19160410|PMID:19188198|PMID:19454486|PMID:19626676|PMID:19667215|PMID:20056103|PMID:20301382|PMID:2137962|PMID:22577227|PMID:22789932|PMID:22933740|PMID:23206802|PMID:24002810|PMID:24088041|PMID:24104924|PMID:24118886|PMID:24316278|PMID:24986921|PMID:25037980|PMID:25489354|PMID:25741868|PMID:26633545|PMID:26803244|PMID:27812026|PMID:28027978|PMID:29350304|PMID:31181185|PMID:31187502|PMID:31379041|PMID:31461494|PMID:32042921|PMID:32313153|PMID:32461654|PMID:32581362|PMID:32906214|PMID:35159298|PMID:3612192|PMID:7668837|PMID:8042671|PMID:8095070|PMID:8190310|PMID:8250532|PMID:8395787|PMID:8554662|PMID:8602753|PMID:8644724|PMID:8739943|PMID:8750605|PMID:9199572|PMID:9270604|PMID:9329425|PMID:9501263|PMID:9556461|PMID:9568930|PMID:9631394|PMID:9762610|PMID:9883875 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1350040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:11076946|PMID:11119722|PMID:11245730|PMID:11371515|PMID:11382202|PMID:11730668|PMID:11731285|PMID:11751691|PMID:11843698|PMID:11916326|PMID:11925565|PMID:12915481|PMID:1436530|PMID:14998933|PMID:1539598|PMID:1550128|PMID:16049925|PMID:16217706|PMID:17352390|PMID:17452590|PMID:17663470|PMID:18055910|PMID:18461509|PMID:19160410|PMID:19454486|PMID:19626676|PMID:19667215|PMID:20056103|PMID:20301353|PMID:2137962|PMID:22577227|PMID:22789932|PMID:22933740|PMID:23206802|PMID:24002810|PMID:24088041|PMID:25037980|PMID:25741868|PMID:26633545|PMID:27812026|PMID:29350304|PMID:30143805|PMID:31181185|PMID:31187502|PMID:31379041|PMID:31461494|PMID:32042921|PMID:32313153|PMID:32906214|PMID:35159298|PMID:3612192|PMID:7668837|PMID:7726182|PMID:8042671|PMID:8095070|PMID:8190310|PMID:8250532|PMID:8395787|PMID:8554662|PMID:8602753|PMID:8644724|PMID:8739943|PMID:8750605|PMID:9199572|PMID:9270604|PMID:9329425|PMID:9501263|PMID:9556461|PMID:9568930|PMID:9631394|PMID:9762610|PMID:9883875 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:705 Leber hereditary optic neuropathy susceptibility ISO RGD:1350040 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotype:cds:m.8584G>A (p.A20T), m.8684C>T (p.T53I) (human) PMID:19026397|REF_RGD_ID:5490293 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9000040 Hypertrophy ISO RGD:1350040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18273840 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1350040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:11076946|PMID:11119722|PMID:11245730|PMID:11371515|PMID:11382202|PMID:11730668|PMID:11731285|PMID:11751691|PMID:11843698|PMID:11916326|PMID:11925565|PMID:1436530|PMID:14998933|PMID:1539598|PMID:1550128|PMID:16049925|PMID:16217706|PMID:17352390|PMID:17452590|PMID:18055910|PMID:18461509|PMID:19160410|PMID:19454486|PMID:19626676|PMID:19667215|PMID:20056103|PMID:2137962|PMID:22577227|PMID:22933740|PMID:24088041|PMID:25741868|PMID:26633545|PMID:31187502|PMID:31379041|PMID:31461494|PMID:32042921|PMID:32313153|PMID:32906214|PMID:35159298|PMID:3612192|PMID:7668837|PMID:8042671|PMID:8095070|PMID:8190310|PMID:8250532|PMID:8395787|PMID:8602753|PMID:8644724|PMID:8750605|PMID:9199572|PMID:9270604|PMID:9329425|PMID:9501263|PMID:9556461|PMID:9568930|PMID:9631394|PMID:9762610|PMID:9883875 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9000973 Maternally Inherited Leigh Syndrome ISO RGD:1350040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27129022 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9000973 Maternally Inherited Leigh Syndrome ISO RGD:1350040 D RGD:9068941 20200609 RGD DNA:point mutation: :m.9176T>C (human) PMID:15709156|REF_RGD_ID:5490270 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9000973 Maternally Inherited Leigh Syndrome ISO RGD:1350040 D RGD:9068941 20200609 RGD DNA:point mutation: :m.9185T>C (human) PMID:18461509|REF_RGD_ID:5490262 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9000973 Maternally Inherited Leigh Syndrome ISO RGD:1350040 D RGD:9068941 20200609 RGD DNA:transversion: :m.8993T>G (human) PMID:14598233|REF_RGD_ID:5490291 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9001276 Failure to Thrive ISO RGD:1350040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9003133 Hypertelorism ISO RGD:1350040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:11076946|PMID:11371515|PMID:11730668|PMID:11751691|PMID:11843698|PMID:11925565|PMID:1436530|PMID:14998933|PMID:1539598|PMID:1550128|PMID:17452590|PMID:19667215|PMID:2137962|PMID:24088041|PMID:25741868|PMID:26633545|PMID:32313153|PMID:32906214|PMID:8042671|PMID:8095070|PMID:8250532|PMID:8395787|PMID:9199572|PMID:9329425|PMID:9556461|PMID:9883875 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9003507 Premature Birth ISO RGD:1350040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Premature birth PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:11076946|PMID:11371515|PMID:11730668|PMID:11751691|PMID:11843698|PMID:11925565|PMID:1436530|PMID:14998933|PMID:1539598|PMID:1550128|PMID:17452590|PMID:19667215|PMID:2137962|PMID:24088041|PMID:25741868|PMID:26633545|PMID:32313153|PMID:32906214|PMID:8042671|PMID:8095070|PMID:8250532|PMID:8395787|PMID:9199572|PMID:9329425|PMID:9556461|PMID:9883875 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9004009 Reperfusion Injury ISO RGD:621239 D RGD:9068941 20200609 RGD PMID:20450733|REF_RGD_ID:5490294 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9004866 Ataxia ISO RGD:1350040 D RGD:9068941 20200609 RGD DNA:point mutation: :m.9035T>C (human) PMID:19626676|REF_RGD_ID:5490257 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9007503 Striatonigral Degeneration, Infantile, Mitochondrial ISO RGD:1350040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Striatonigral degeneration, infantile, mitochondrial PMID:17663470|PMID:19160410|PMID:20056103|PMID:22789932|PMID:23206802|PMID:24002810|PMID:25741868|PMID:31181185|PMID:7668837|PMID:8554662|PMID:9270604|PMID:9501263|PMID:9631394 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9007527 Mitochondrial Myopathy, Infantile, Transient ISO RGD:1350040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9008137 Apical Hypertrophic Cardiomyopathy and Neuropathy ISO RGD:1350040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy PMID:21686774 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9074 systemic lupus erythematosus ISO RGD:1350040 D RGD:9068941 20200609 RGD DNA:transition:cds:m.9055A>G (human) PMID:18708297|REF_RGD_ID:5490259 12415997 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9351 diabetes mellitus ISO RGD:1350040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18273840 12416019 DVL1 dishevelled segment polarity protein 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:733042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12416019 DVL1 dishevelled segment polarity protein 1 gene DOID:0060254 Robinow syndrome ISO RGD:733042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12416019 DVL1 dishevelled segment polarity protein 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:733042 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12416019 DVL1 dishevelled segment polarity protein 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:733042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12416019 DVL1 dishevelled segment polarity protein 1 gene DOID:0060765 autosomal dominant Robinow syndrome 2 ISO RGD:733042 D RGD:7240710 20180130 OMIM 12416019 DVL1 dishevelled segment polarity protein 1 gene DOID:0060765 autosomal dominant Robinow syndrome 2 ISO RGD:733042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 PMID:10319206|PMID:23806086|PMID:24088041|PMID:25045061|PMID:25741868|PMID:25817014|PMID:25817016|PMID:26924530|PMID:28492532|PMID:29276006 12416019 DVL1 dishevelled segment polarity protein 1 gene DOID:0060766 autosomal dominant Robinow syndrome 1 ISO RGD:733042 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 PMID:25045061|PMID:25741868|PMID:25817014|PMID:28492532 12416019 DVL1 dishevelled segment polarity protein 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:733042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12416019 DVL1 dishevelled segment polarity protein 1 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:733042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12416019 DVL1 dishevelled segment polarity protein 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:733042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12416019 DVL1 dishevelled segment polarity protein 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:733042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12416019 DVL1 dishevelled segment polarity protein 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:733042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12416019 DVL1 dishevelled segment polarity protein 1 gene DOID:11198 DiGeorge syndrome ISO RGD:733042 D RGD:9068941 20200609 RGD PMID:8644734|REF_RGD_ID:1580898 12416019 DVL1 dishevelled segment polarity protein 1 gene DOID:150 disease of mental health ISO RGD:733043 D RGD:9068941 20200609 RGD PMID:9298901|REF_RGD_ID:734906 12416019 DVL1 dishevelled segment polarity protein 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:733042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12416019 DVL1 dishevelled segment polarity protein 1 gene DOID:5844 myocardial infarction ISO RGD:620632 D RGD:9068941 20200609 RGD PMID:15256074|REF_RGD_ID:1580899 12416019 DVL1 dishevelled segment polarity protein 1 gene DOID:630 genetic disease ISO RGD:733042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28492532 12416019 DVL1 dishevelled segment polarity protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12416019 DVL1 dishevelled segment polarity protein 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:733042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12416019 DVL1 dishevelled segment polarity protein 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:733042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12416044 MROH8 maestro heat like repeat family member 8 gene DOID:2234 focal epilepsy ISO RGD:1352113 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12416044 MROH8 maestro heat like repeat family member 8 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1352113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 12416044 MROH8 maestro heat like repeat family member 8 gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1352113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 12416091 MIR32 microRNA mir-32 gene DOID:0080435 developmental and epileptic encephalopathy 37 ISO RGD:1348727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 PMID:28492532 12416091 MIR32 microRNA mir-32 gene DOID:10591 pre-eclampsia ISO RGD:1348727 D RGD:9068941 20230128 RGD miRNA:increased expression:blood serum (human) PMID:25017274|REF_RGD_ID:155882496 12416091 MIR32 microRNA mir-32 gene DOID:1790 malignant mesothelioma ISO RGD:1348727 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27716620 12416162 TFRC transferrin receptor gene DOID:0050642 hypochromic microcytic anemia ISO RGD:70503 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression: erythrocyte: PMID:18552213|REF_RGD_ID:11062089 12416162 TFRC transferrin receptor gene DOID:0060041 autism spectrum disorder ISO RGD:733275 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12416162 TFRC transferrin receptor gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16904380 12416162 TFRC transferrin receptor gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:733275 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 12416162 TFRC transferrin receptor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:70488 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:23805238|REF_RGD_ID:11541090 12416162 TFRC transferrin receptor gene DOID:0111948 immunodeficiency 46 ISO RGD:733275 D RGD:7240710 20180130 OMIM 12416162 TFRC transferrin receptor gene DOID:0111948 immunodeficiency 46 ISO RGD:733275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TFRC-related combined immunodeficiency PMID:17576681|PMID:25741868|PMID:26642240|PMID:28492532|PMID:9536098 12416162 TFRC transferrin receptor gene DOID:0111962 combined immunodeficiency ISO RGD:733275 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:26642240 12416162 TFRC transferrin receptor gene DOID:10283 prostate cancer ISO RGD:733275 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15514585|REF_RGD_ID:2292017 12416162 TFRC transferrin receptor gene DOID:10608 celiac disease ISO RGD:70503 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:duodenum: PMID:15054143|REF_RGD_ID:11062102 12416162 TFRC transferrin receptor gene DOID:11054 urinary bladder cancer ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16904380 12416162 TFRC transferrin receptor gene DOID:11612 polycystic ovary syndrome ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12416162 TFRC transferrin receptor gene DOID:11758 iron deficiency anemia ISO RGD:70503 D RGD:9068941 20200609 RGD PMID:26303393|REF_RGD_ID:11062104 12416162 TFRC transferrin receptor gene DOID:11758 iron deficiency anemia ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16733738|PMID:17162259|PMID:17163184 12416162 TFRC transferrin receptor gene DOID:11758 iron deficiency anemia ISO RGD:733275 D RGD:9068941 20200609 RGD mRNA:increased expression:placenta: PMID:17877204|REF_RGD_ID:11062105 12416162 TFRC transferrin receptor gene DOID:11758 iron deficiency anemia ISO RGD:733275 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:15104997|REF_RGD_ID:11062096 12416162 TFRC transferrin receptor gene DOID:12241 beta thalassemia ISO RGD:70503 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:16755567|REF_RGD_ID:11062138 12416162 TFRC transferrin receptor gene DOID:12241 beta thalassemia ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16755567 12416162 TFRC transferrin receptor gene DOID:12849 autistic disorder ISO RGD:733275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12416162 TFRC transferrin receptor gene DOID:1612 breast cancer ISO RGD:733275 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:14965443|REF_RGD_ID:2292018 12416162 TFRC transferrin receptor gene DOID:1612 breast cancer severity ISO RGD:733275 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:11299801|REF_RGD_ID:2292021 12416162 TFRC transferrin receptor gene DOID:1724 duodenal ulcer ISO RGD:70488 D RGD:9068941 20200609 RGD protein:increased expression:duodenal mucosa PMID:19342511|REF_RGD_ID:11541091 12416162 TFRC transferrin receptor gene DOID:2351 iron metabolism disease ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17163184|PMID:17254562 12416162 TFRC transferrin receptor gene DOID:2394 ovarian cancer ISO RGD:733275 D RGD:9068941 20200609 RGD PMID:3493065|REF_RGD_ID:2298574 12416162 TFRC transferrin receptor gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:733275 D RGD:9068941 20200609 RGD PMID:9373912|REF_RGD_ID:2292023 12416162 TFRC transferrin receptor gene DOID:3070 high grade glioma ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16904380 12416162 TFRC transferrin receptor gene DOID:3459 breast carcinoma ISO RGD:733275 D RGD:9068941 20200609 RGD PMID:11497259|REF_RGD_ID:2292020 12416162 TFRC transferrin receptor gene DOID:3702 cervical adenocarcinoma ISO RGD:733275 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:9739406|REF_RGD_ID:2292022 12416162 TFRC transferrin receptor gene DOID:374 nutrition disease ISO RGD:70488 D RGD:9068941 20200609 RGD protein:decreased expression:T cell PMID:18373698|REF_RGD_ID:2292028 12416162 TFRC transferrin receptor gene DOID:3944 Arenaviridae infectious disease ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17287727 12416162 TFRC transferrin receptor gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:70503 D RGD:9068941 20221006 MouseDO OMIM:261800 12416162 TFRC transferrin receptor gene DOID:4450 renal cell carcinoma ISO RGD:733275 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney, T cell PMID:8050820|REF_RGD_ID:2292025 12416162 TFRC transferrin receptor gene DOID:4450 renal cell carcinoma ISO RGD:733275 D RGD:9068941 20200609 RGD protein:increased expression:kidney, T cell PMID:12394762|REF_RGD_ID:2292024 12416162 TFRC transferrin receptor gene DOID:5419 schizophrenia ISO RGD:733275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12416162 TFRC transferrin receptor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12416162 TFRC transferrin receptor gene DOID:627 severe combined immunodeficiency ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26642240 12416162 TFRC transferrin receptor gene DOID:630 genetic disease ISO RGD:733275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12416162 TFRC transferrin receptor gene DOID:684 hepatocellular carcinoma ISO RGD:70488 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:16953838|REF_RGD_ID:2292036 12416162 TFRC transferrin receptor gene DOID:767 muscular atrophy ISO RGD:70488 D RGD:9068941 20200609 RGD mRNA:decreased expression:gastrocnemius PMID:18395385|REF_RGD_ID:2292027 12416162 TFRC transferrin receptor gene DOID:8955 sideroblastic anemia ISO RGD:70503 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:erythroblast: PMID:21326867|REF_RGD_ID:11062136 12416162 TFRC transferrin receptor gene DOID:9000242 Lymphoma, AIDS-Related treatment ISO RGD:733275 D RGD:9068941 20200609 RGD PMID:26325374|REF_RGD_ID:11062098 12416162 TFRC transferrin receptor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16904380 12416162 TFRC transferrin receptor gene DOID:9003281 Spontaneous Abortions ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12416162 TFRC transferrin receptor gene DOID:9004240 Phyllodes Tumor ISO RGD:733275 D RGD:9068941 20200609 RGD protein:increased expression:myoepithelial cell PMID:2174150|REF_RGD_ID:2292026 12416162 TFRC transferrin receptor gene DOID:9004713 Acute-Phase Reaction ISO RGD:70488 D RGD:9068941 20200609 RGD PMID:17417667|REF_RGD_ID:1601529 12416162 TFRC transferrin receptor gene DOID:9005172 Lung Neoplasms ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16904380 12416162 TFRC transferrin receptor gene DOID:9005372 Inflammation ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16603144 12416162 TFRC transferrin receptor gene DOID:9007102 Myocardial Ischemia ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12416162 TFRC transferrin receptor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21785164 12416162 TFRC transferrin receptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18549825 12416162 TFRC transferrin receptor gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:70488 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:22639386|REF_RGD_ID:11541085 12416162 TFRC transferrin receptor gene DOID:9008114 Helicobacter Infections ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16733738|PMID:17163184 12416162 TFRC transferrin receptor gene DOID:9008443 Colorectal Neoplasms ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16111806 12416162 TFRC transferrin receptor gene DOID:9008939 Breast Neoplasms ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16904380|PMID:19238537 12416162 TFRC transferrin receptor gene DOID:9538 multiple myeloma treatment ISO RGD:733275 D RGD:9068941 20200609 RGD PMID:21654517|REF_RGD_ID:11062101 12416162 TFRC transferrin receptor gene DOID:9970 obesity ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17062801|PMID:20882379 12416191 PYGL glycogen phosphorylase L gene DOID:2747 glycogen storage disease ISO RGD:731803 D RGD:9068941 20200609 RGD PMID:9536091|REF_RGD_ID:1599374 12416191 PYGL glycogen phosphorylase L gene DOID:2754 glycogen storage disease VI ISO RGD:731803 D RGD:7240710 20180130 OMIM 12416191 PYGL glycogen phosphorylase L gene DOID:2754 glycogen storage disease VI ISO RGD:731803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type VI PMID:12809646|PMID:16199547|PMID:17576681|PMID:17705025|PMID:20301760|PMID:21646031|PMID:22899091|PMID:24033266|PMID:25266922|PMID:25640679|PMID:25741868|PMID:28492532|PMID:31508908|PMID:31768638|PMID:32268899|PMID:32892177|PMID:32961316|PMID:33763395|PMID:9529348|PMID:9536091|PMID:9536098 12416191 PYGL glycogen phosphorylase L gene DOID:3650 lactic acidosis ISO RGD:620687 D RGD:9068941 20200609 RGD DNA:mutation:multiple PMID:17705025|REF_RGD_ID:11071447 12416191 PYGL glycogen phosphorylase L gene DOID:3650 lactic acidosis ISO RGD:731803 D RGD:9068941 20200609 RGD DNA:mutation:multiple PMID:17705025|REF_RGD_ID:11071447 12416191 PYGL glycogen phosphorylase L gene DOID:3650 lactic acidosis ISO RGD:731804 D RGD:9068941 20200609 RGD DNA:mutation:multiple PMID:17705025|REF_RGD_ID:11071447 12416191 PYGL glycogen phosphorylase L gene DOID:630 genetic disease ISO RGD:731803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12416191 PYGL glycogen phosphorylase L gene DOID:684 hepatocellular carcinoma ISO RGD:731803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2885971 12416191 PYGL glycogen phosphorylase L gene DOID:9005369 Hepatomegaly ISO RGD:620687 D RGD:9068941 20200609 RGD DNA:SNPs,insertions,deletions:exons,introns:multiple PMID:21646031|REF_RGD_ID:21079734 12416191 PYGL glycogen phosphorylase L gene DOID:9005369 Hepatomegaly ISO RGD:620687 D RGD:9068941 20200609 RGD associated with glycogen storage disease VI;DNA:mutation:multiple PMID:17705025|REF_RGD_ID:11071447 12416191 PYGL glycogen phosphorylase L gene DOID:9005369 Hepatomegaly ISO RGD:731803 D RGD:9068941 20200609 RGD DNA:SNPs,insertions,deletions:exons,introns:multiple PMID:21646031|REF_RGD_ID:21079734 12416191 PYGL glycogen phosphorylase L gene DOID:9005369 Hepatomegaly ISO RGD:731803 D RGD:9068941 20200609 RGD associated with glycogen storage disease VI;DNA:mutation:multiple PMID:17705025|REF_RGD_ID:11071447 12416191 PYGL glycogen phosphorylase L gene DOID:9005369 Hepatomegaly ISO RGD:731804 D RGD:9068941 20200609 RGD DNA:SNPs,insertions,deletions:exons,introns:multiple PMID:21646031|REF_RGD_ID:21079734 12416191 PYGL glycogen phosphorylase L gene DOID:9005369 Hepatomegaly ISO RGD:731804 D RGD:9068941 20200609 RGD associated with glycogen storage disease VI;DNA:mutation:multiple PMID:17705025|REF_RGD_ID:11071447 12416191 PYGL glycogen phosphorylase L gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:620687 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:25336395|REF_RGD_ID:21079733 12416191 PYGL glycogen phosphorylase L gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12416191 PYGL glycogen phosphorylase L gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731803 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:25336395|REF_RGD_ID:21079733 12416191 PYGL glycogen phosphorylase L gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731804 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:25336395|REF_RGD_ID:21079733 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:619563 D RGD:9068941 20210423 RGD PMID:11673832|REF_RGD_ID:126781761 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:0050902 medulloblastoma ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20168248 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:619563 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17119686|REF_RGD_ID:2289931 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:15788662|REF_RGD_ID:2289981 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:619563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:10283 prostate cancer ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:10487 Hirschsprung's disease ISO RGD:10533 D RGD:9068941 20200609 RGD PMID:12526770|REF_RGD_ID:734940 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:10487 Hirschsprung's disease ISO RGD:10533 D RGD:9068941 20220825 MouseDO OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:10534 stomach cancer ISO RGD:619563 D RGD:7240710 20220209 OMIM 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:10534 stomach cancer ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:15457249|PMID:18339846|PMID:25157968 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:10591 pre-eclampsia ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:9158311|REF_RGD_ID:1580990 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:11054 urinary bladder cancer ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:16771730|REF_RGD_ID:2289934 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:11054 urinary bladder cancer ISO RGD:619563 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34291863 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:16685269|REF_RGD_ID:2298502 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:1107 esophageal carcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus PMID:16397024|PMID:23220880|PMID:25157968|PMID:26619011 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:10533 D RGD:9068941 20200609 RGD PMID:12072561|REF_RGD_ID:734939 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:10533 D RGD:9068941 20220825 MouseDO 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:15685397|REF_RGD_ID:1580988 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:13133 HELLP syndrome ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:9158311|REF_RGD_ID:1580990 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:1324 lung cancer ISO RGD:619563 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:1681519|PMID:24033266|PMID:24728327|PMID:28492532|PMID:2999974|PMID:3003577|PMID:8095488 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:14330 Parkinson's disease ISO RGD:619563 D RGD:9068941 20200609 RGD protein:decreased expression:forebrain PMID:15857400|REF_RGD_ID:2289955 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:14566 disease of cellular proliferation ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:15457249|PMID:18339846|PMID:22908275|PMID:25157968|PMID:26619011 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:1612 breast cancer ISO RGD:10533 D RGD:9068941 20220825 MouseDO OMIM:114480 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:182 calcinosis ISO RGD:619563 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:breast PMID:18256879|REF_RGD_ID:2289923 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:1909 melanoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:18413839|PMID:22046346|PMID:23220880|PMID:25157968|PMID:26619011 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:2154 nephroblastoma ISO RGD:619563 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:16932912|REF_RGD_ID:2289932 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:2394 ovarian cancer ISO RGD:619563 D RGD:7240710 20210818 OMIM 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:2513 basal cell carcinoma ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:2526 prostate adenocarcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:23220880|PMID:26619011 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:2615 papilloma ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8603490 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:2671 transitional cell carcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:16397024|PMID:18413839|PMID:22046346|PMID:22908275|PMID:23220880|PMID:25157968|PMID:26619011 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:2671 transitional cell carcinoma severity ISO RGD:619563 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:17987577|REF_RGD_ID:2289927 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:619563 D RGD:9068941 20210423 RGD PMID:22549618|REF_RGD_ID:126790474 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:299 adenocarcinoma ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21673877|PMID:22042947 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:3008 invasive ductal carcinoma ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28235801 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:3070 high grade glioma ISO RGD:619563 D RGD:7240710 20230505 OMIM 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:3070 high grade glioma ISO RGD:619563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:15457249|PMID:24728327|PMID:25741868|PMID:26094658|PMID:28492532|PMID:29868112 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:3443 mammary Paget's disease ISO RGD:619563 D RGD:9068941 20200609 RGD DNA:amplification PMID:16932067|REF_RGD_ID:2289933 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:3457 invasive lobular carcinoma severity ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:16761510|REF_RGD_ID:2289935 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:363 uterine cancer ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:16397024|PMID:18413839|PMID:22046346|PMID:23220880|PMID:25157968|PMID:26619011|PMID:28492532 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:3713 ovary adenocarcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian adenocarcinoma PMID:15457249|PMID:18339846 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:3717 gastric adenocarcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:15457249|PMID:16397024|PMID:16988931|PMID:18339846|PMID:18413839|PMID:22046346|PMID:22908275|PMID:23220880|PMID:24033266|PMID:24516025|PMID:25157968|PMID:26619011|PMID:28492532 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:15457249|PMID:15753357|PMID:16638863|PMID:16863509|PMID:18334834|PMID:22325357|PMID:22761469|PMID:24033266|PMID:25157968 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:15457249|PMID:22908275|PMID:24033266|PMID:26619011 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:619563 D RGD:9068941 20210423 RGD PMID:26824984|REF_RGD_ID:126790475 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:4001 ovarian carcinoma ISO RGD:619563 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:16397024|PMID:23220880|PMID:26619011|PMID:28492532 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:4450 renal cell carcinoma ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10897039 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:4450 renal cell carcinoma ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:17296437|REF_RGD_ID:2289930 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:4450 renal cell carcinoma ISO RGD:619563 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:15360049|REF_RGD_ID:2289987 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:4465 papillary renal cell carcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:18413839|PMID:22046346|PMID:23220880|PMID:25157968|PMID:26619011 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:4947 cholangiocarcinoma ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16818635 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:4948 gallbladder carcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of gallbladder PMID:16397024|PMID:23220880|PMID:26619011|PMID:28492532 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:5517 stomach carcinoma disease_progression ISO RGD:619563 D RGD:9068941 20210423 RGD PMID:21709195|REF_RGD_ID:126781768 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma PMID:22908275|PMID:26619011 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:5520 head and neck squamous cell carcinoma disease_progression ISO RGD:619563 D RGD:9068941 20210423 RGD PMID:20604875|REF_RGD_ID:126790467 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:571 median neuropathy ISO RGD:2561 D RGD:9068941 20200609 RGD PMID:19296522|REF_RGD_ID:10449020 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:22908275|PMID:26619011 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:6000 congestive heart failure ISO RGD:2561 D RGD:9068941 20200609 RGD PMID:10421602|REF_RGD_ID:1580989 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:6171 uterine carcinosarcoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:16397024|PMID:23220880|PMID:26619011|PMID:28492532 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:630 genetic disease ISO RGD:619563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:8923 skin melanoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:18413839|PMID:22046346|PMID:23220880|PMID:25157968|PMID:26619011 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24997986 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532492 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:619563 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA, protein:polymorphism, increased expression:serum:p.I655V PMID:18237248|REF_RGD_ID:2289925 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:619563 D RGD:9068941 20200609 RGD associated with Carcinoma, Transitional Cell;protein:increased expression:urinary bladder PMID:18097576|REF_RGD_ID:2289926 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:619563 D RGD:9068941 20220901 RGD associated with lung adenocarcinoma; protein:increased expression:lung (human) PMID:21966491|REF_RGD_ID:153344600 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22042947 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:619563 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:15640503|PMID:21532492|PMID:22042947 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8603490 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000918 Disease Progression ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10897039|PMID:21638049|PMID:21750559 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:2561 D RGD:9068941 20200609 RGD rat gene in a mouse model PMID:11238891|REF_RGD_ID:734938 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16984552 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002170 Experimental Neoplasms ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14612517 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:16771730|REF_RGD_ID:2289934 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11222871|PMID:16984552|PMID:17363613 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002498 Wallerian Degeneration ISO RGD:2561 D RGD:9068941 20200609 RGD PMID:9030624|REF_RGD_ID:68774 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:15457249|PMID:18339846 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002801 Recurrence ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20079691|PMID:21638049|PMID:26124351 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11222871 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:16397024|PMID:22908275|PMID:23220880|PMID:25157968|PMID:26619011 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:16157365|REF_RGD_ID:2298504 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:619563 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17465227|REF_RGD_ID:2289947 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9003774 Familial Visceral Neuropathy 2, Autosomal Recessive ISO RGD:619563 D RGD:7240710 20211103 OMIM 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9003774 Familial Visceral Neuropathy 2, Autosomal Recessive ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral neuropathy, familial, 2, autosomal recessive PMID:33497358 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:16962163|REF_RGD_ID:2289950 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:16360440|REF_RGD_ID:2298503 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16984552 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9005172 Lung Neoplasms ISO RGD:619563 D RGD:7240710 20180130 OMIM 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2561 D RGD:9068941 20200609 RGD PMID:1913683|REF_RGD_ID:2289920 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2561 D RGD:9068941 20200609 RGD Androgen-dependent PMID:12150826|REF_RGD_ID:6482679 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25221644|PMID:8603490 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:17203220|REF_RGD_ID:2289979 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9006205 Animal Disease Models ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22302033 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21673877 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:2561 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expresssion:left ventricle myocardium PMID:22285193|REF_RGD_ID:10449013 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:15685397|REF_RGD_ID:1580988 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:2561 D RGD:9068941 20200609 RGD protein:increased expression:oral epithelium PMID:17704947|REF_RGD_ID:2289941 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9007568 Circulating Neoplastic Cells ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29044505 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9007702 Carcinogenesis ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25221644 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:18202752|REF_RGD_ID:2298490 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9007715 Endometrial Neoplasms severity ISO RGD:619563 D RGD:9068941 20200609 RGD DNA:amplification PMID:17945336|REF_RGD_ID:2298491 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:18413839|PMID:22046346|PMID:23220880|PMID:25157968|PMID:26619011 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008114 Helicobacter Infections treatment ISO RGD:619563 D RGD:9068941 20200911 RGD associated with gastritis; PMID:25051417|REF_RGD_ID:38599160 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:16397024|PMID:16988931|PMID:18413839|PMID:22046346|PMID:22908275|PMID:23220880|PMID:24033266|PMID:24516025|PMID:25157968|PMID:26619011|PMID:28492532 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:15753357|PMID:16397024|PMID:16863509|PMID:16988931|PMID:18413839|PMID:22046346|PMID:22908275|PMID:23220880|PMID:24033266|PMID:24516025|PMID:25157968|PMID:26619011|PMID:28492532 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:619563 D RGD:9068941 20200609 RGD mRNA:increased expression:blood PMID:18269779|REF_RGD_ID:2289921 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008939 Breast Neoplasms treatment ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:16609042|REF_RGD_ID:10401078 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:619563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:17576681|PMID:28492532|PMID:9536098 12416215 ERBB2 erb-b2 receptor tyrosine kinase 2 gene DOID:9256 colorectal cancer ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:0050902 medulloblastoma ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:0050902 medulloblastoma severity ISO RGD:730916 D RGD:9068941 20200609 RGD PMID:25576913|REF_RGD_ID:13702904 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:730916 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:0080016 spina bifida ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11023856 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:0080630 B-lymphoblastic leukemia/lymphoma treatment ISO RGD:11069 D RGD:9068941 20200609 RGD PMID:22447844|REF_RGD_ID:11075097 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:0110213 isolated cleft palate ISO RGD:730916 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Isolated cleft palate PMID:22473090|PMID:24728327|PMID:25741868|PMID:27153395|PMID:28492532 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:10763 hypertension ISO RGD:3284 D RGD:9068941 20200609 RGD PMID:1657776|REF_RGD_ID:11080972 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:11446 sciatic neuropathy ISO RGD:3284 D RGD:9068941 20200609 RGD PMID:19909480|REF_RGD_ID:11080976 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:12215 oligohydramnios ISO RGD:3284 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17519529|REF_RGD_ID:2292203 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:1240 leukemia ISO RGD:730916 D RGD:9068941 20200609 RGD DNA:fusion protein, missense mutation: :p.H650Q, p.R748G (human) PMID:21224473|REF_RGD_ID:11075100 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:1520 colon carcinoma ISO RGD:730916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:24033266|PMID:25741868|PMID:28492532 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:1793 pancreatic cancer ISO RGD:730916 D RGD:9068941 20200609 RGD PMID:14695158|REF_RGD_ID:2324850 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:1793 pancreatic cancer ISO RGD:730916 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:7665222|REF_RGD_ID:2324851 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:1909 melanoma ISO RGD:730916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:24132921|PMID:28492532 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:2226 myeloproliferative neoplasm ISO RGD:730916 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable PMID:22703879|PMID:22718859|PMID:24728327|PMID:25741868|PMID:28492532|PMID:35101336 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:2394 ovarian cancer ISO RGD:730916 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:22473090|PMID:24728327|PMID:25336117|PMID:25741868|PMID:27153395|PMID:28492532|PMID:30093976|PMID:30359545 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:2526 prostate adenocarcinoma ISO RGD:730916 D RGD:9068941 20200609 RGD protein:increased expression:prostate PMID:7524068|REF_RGD_ID:2292156 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:2696 Leydig cell tumor ISO RGD:730916 D RGD:9068941 20200609 RGD mRNA:alternative form:testis PMID:11920744|REF_RGD_ID:2298580 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:2696 Leydig cell tumor ISO RGD:730916 D RGD:9068941 20200609 RGD protein:increased expression:testis, leydig cell PMID:11994382|REF_RGD_ID:2298579 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:3459 breast carcinoma disease_progression ISO RGD:730916 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:16741576|REF_RGD_ID:2292178 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3284 D RGD:9068941 20200609 RGD PMID:16917016|REF_RGD_ID:11084934 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:3770 pulmonary fibrosis ISO RGD:3284 D RGD:9068941 20200609 RGD PMID:9458803|REF_RGD_ID:11080970 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:3827 congenital diaphragmatic hernia ISO RGD:11069 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:3840 craniopharyngioma disease_progression ISO RGD:730916 D RGD:9068941 20200609 RGD PMID:20190664|REF_RGD_ID:11080971 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:3907 lung squamous cell carcinoma ISO RGD:730916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:24033266|PMID:25741868|PMID:28492532 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:4202 brain stem glioma severity ISO RGD:730916 D RGD:9068941 20200609 RGD PMID:20197468|REF_RGD_ID:13702892 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:4440 seminoma ISO RGD:730916 D RGD:9068941 20200609 RGD mRNA:splice variant:testis PMID:8610136|REF_RGD_ID:2292154 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:730916 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:12866380|REF_RGD_ID:2292157 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:4545 mesenchymal chondrosarcoma ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12817616 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:730916 D RGD:9068941 20200609 RGD PMID:24486648|REF_RGD_ID:11075087 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:6000 congestive heart failure ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28347583 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:630 genetic disease ISO RGD:730916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:674 cleft palate ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264099 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:850 lung disease ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20920717 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:8549 chronic ulcer of skin ISO RGD:3284 D RGD:9068941 20200609 RGD PMID:16383039|REF_RGD_ID:2292163 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:8683 myeloid sarcoma treatment ISO RGD:730916 D RGD:9068941 20200609 RGD PMID:22348015|REF_RGD_ID:11075098 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:8692 myeloid leukemia ISO RGD:730916 D RGD:9068941 20200609 RGD PMID:24486648|REF_RGD_ID:11075087 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:8719 in situ carcinoma ISO RGD:730916 D RGD:9068941 20200609 RGD mRNA:splice variant:testis PMID:8610136|REF_RGD_ID:2292154 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9000099 Experimental Colitis treatment ISO RGD:3284 D RGD:9068941 20200609 RGD PMID:24115822|REF_RGD_ID:11080973 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:730916 D RGD:9068941 20200609 RGD mRNA:alternative form:testis PMID:11920744|REF_RGD_ID:2298580 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:730916 D RGD:9068941 20200609 RGD mRNA:splice variant:testis PMID:8610136|REF_RGD_ID:2292154 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9000998 Brain Injuries ISO RGD:3284 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex, hippocampus PMID:9645955|REF_RGD_ID:11084932 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9001371 Eosinophilia ISO RGD:730916 D RGD:9068941 20200609 RGD DNA:gene fusion PMID:23114151|REF_RGD_ID:11075088 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9001371 Eosinophilia ISO RGD:730916 D RGD:9068941 20200609 RGD DNA:translocation: (human) PMID:15284118|REF_RGD_ID:1580848 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3284 D RGD:9068941 20200609 RGD PMID:17382907|REF_RGD_ID:11080969 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9001916 Fetal Death ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11023856 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9001997 Pdgfra-Associated Chronic Eosinophilic Leukemia ISO RGD:730916 D RGD:9068941 20200609 RGD DNA:gene fusion PMID:22806436|REF_RGD_ID:11075089 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:3284 D RGD:9068941 20200609 RGD PMID:11889420|REF_RGD_ID:11080974 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9002514 Neointima treatment ISO RGD:3284 D RGD:9068941 20200609 RGD associated with Carotid Artery Injuries PMID:9323080|REF_RGD_ID:11087557 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9002762 Ovarian Neoplasms ISO RGD:730916 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:15791568|REF_RGD_ID:2298578 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:730916 D RGD:9068941 20200609 RGD protein:increased expression:ovary, epithelial cell PMID:8402626|REF_RGD_ID:2292199 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:3284 D RGD:9068941 20200609 RGD PMID:16042218|REF_RGD_ID:11080975 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9004265 Endometrioid Carcinomas ISO RGD:730916 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:15791568|REF_RGD_ID:2298578 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9004268 Uterine Neoplasms ISO RGD:730916 D RGD:9068941 20200609 RGD PMID:17049587|REF_RGD_ID:2292177 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3284 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:10550325|REF_RGD_ID:8554477 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:730916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17568391|PMID:17576681|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:23752188|PMID:24033266|PMID:24728327|PMID:25336117|PMID:25741868|PMID:26580448|PMID:26928227|PMID:27153395|PMID:28492532|PMID:28592523|PMID:29978744|PMID:30359545|PMID:30389923|PMID:9536098 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:730916 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17568391|PMID:17576681|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:23752188|PMID:24033266|PMID:24728327|PMID:24969172|PMID:25336117|PMID:25741868|PMID:26580448|PMID:26928227|PMID:27153395|PMID:28492532|PMID:28592523|PMID:28873162|PMID:29978744|PMID:30359545|PMID:30389923|PMID:30761385|PMID:31173267|PMID:33332384|PMID:35101336|PMID:9536098 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9007096 Stroke ISO RGD:3284 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:15342968|REF_RGD_ID:2292165 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9007480 Hyperoxia ISO RGD:3284 D RGD:9068941 20200609 RGD protein:increased expression:vascular associated smooth muscle cell PMID:15722379|REF_RGD_ID:1580851 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9007870 Respiratory System Abnormalities ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11023856 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9008257 Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal ISO RGD:730916 D RGD:7240710 20200304 OMIM 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9008257 Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal ISO RGD:730916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal PMID:12522257|PMID:14645423|PMID:14699510|PMID:15928335|PMID:16954519|PMID:17087936|PMID:17087943|PMID:17566086|PMID:20071345|PMID:22473090|PMID:22703879|PMID:22745105|PMID:24728327|PMID:25157968|PMID:25741868|PMID:26928227|PMID:28492532|PMID:28873162|PMID:29486293|PMID:3152525|PMID:3152526|PMID:33332384 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9008731 Craniofacial Abnormalities ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11023856 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:12522257|PMID:12949711|PMID:14645423|PMID:14699510|PMID:15146165|PMID:15685537|PMID:15928335|PMID:16199547|PMID:16638875|PMID:16954519|PMID:17087936|PMID:17087943|PMID:17566086|PMID:17568391|PMID:17576681|PMID:18794084|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:22745105|PMID:23752188|PMID:24033266|PMID:24728327|PMID:24969172|PMID:25107291|PMID:25157968|PMID:25336117|PMID:25741868|PMID:26130666|PMID:26580448|PMID:26928227|PMID:27153395|PMID:27701467|PMID:28166811|PMID:28492532|PMID:28592523|PMID:29978744|PMID:30093976|PMID:30359545|PMID:30389923|PMID:3152525|PMID:3152526|PMID:9536098 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730916 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, familial PMID:12522257|PMID:12949711|PMID:14645423|PMID:14699510|PMID:15146165|PMID:15685537|PMID:15928335|PMID:16199547|PMID:16638875|PMID:16954519|PMID:17087936|PMID:17087943|PMID:17566086|PMID:17568391|PMID:17576681|PMID:18794084|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:22745105|PMID:23752188|PMID:24033266|PMID:24728327|PMID:24969172|PMID:25107291|PMID:25157968|PMID:25336117|PMID:25741868|PMID:26130666|PMID:26580448|PMID:26928227|PMID:27153395|PMID:27701467|PMID:28492532|PMID:28592523|PMID:28873162|PMID:29978744|PMID:30093976|PMID:30359545|PMID:30389923|PMID:30761385|PMID:3152525|PMID:3152526|PMID:33332384|PMID:9536098 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730916 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:12522257|PMID:12949711|PMID:14645423|PMID:14699510|PMID:15146165|PMID:15685537|PMID:15928335|PMID:16199547|PMID:16638875|PMID:16954519|PMID:17087936|PMID:17087943|PMID:17566086|PMID:17568391|PMID:17576681|PMID:18794084|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:22745105|PMID:23752188|PMID:24033266|PMID:24728327|PMID:24969172|PMID:25107291|PMID:25157968|PMID:25336117|PMID:25741868|PMID:26130666|PMID:26580448|PMID:26928227|PMID:27153395|PMID:27701467|PMID:28492532|PMID:28592523|PMID:28873162|PMID:29978744|PMID:30093976|PMID:30359545|PMID:30389923|PMID:30761385|PMID:3152525|PMID:3152526|PMID:33332384|PMID:35101336|PMID:9536098 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730916 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:12522257|PMID:12949711|PMID:14645423|PMID:14699510|PMID:15146165|PMID:15685537|PMID:15928335|PMID:16199547|PMID:16638875|PMID:16954519|PMID:17087936|PMID:17087943|PMID:17566086|PMID:17568391|PMID:17576681|PMID:18794084|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:22745105|PMID:23752188|PMID:24033266|PMID:24728327|PMID:24969172|PMID:25107291|PMID:25157968|PMID:25336117|PMID:25741868|PMID:26130666|PMID:26580448|PMID:26928227|PMID:27153395|PMID:27701467|PMID:28492532|PMID:28592523|PMID:28873162|PMID:29978744|PMID:30093976|PMID:30359545|PMID:30389923|PMID:30761385|PMID:31173267|PMID:3152525|PMID:3152526|PMID:33332384|PMID:35101336|PMID:9536098 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:12522257|PMID:12949711|PMID:14645423|PMID:14699510|PMID:15146165|PMID:15685537|PMID:15928335|PMID:16199547|PMID:16638875|PMID:16954519|PMID:17087936|PMID:17087943|PMID:17566086|PMID:17568391|PMID:17576681|PMID:18794084|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:22745105|PMID:23752188|PMID:24033266|PMID:24132921|PMID:24728327|PMID:24969172|PMID:25107291|PMID:25157968|PMID:25336117|PMID:25741868|PMID:26130666|PMID:26580448|PMID:26928227|PMID:27153395|PMID:27701467|PMID:28492532|PMID:28592523|PMID:28873162|PMID:29978744|PMID:30093976|PMID:30359545|PMID:30389923|PMID:30761385|PMID:30833958|PMID:31173267|PMID:3152525|PMID:3152526|PMID:33332384|PMID:35101336|PMID:9536098 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730916 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:12522257|PMID:12949711|PMID:14645423|PMID:14699510|PMID:15146165|PMID:15685537|PMID:15928335|PMID:16199547|PMID:16638875|PMID:16954519|PMID:17087936|PMID:17087943|PMID:17566086|PMID:17568391|PMID:17576681|PMID:18794084|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:22745105|PMID:23752188|PMID:24033266|PMID:24132921|PMID:24728327|PMID:24969172|PMID:25107291|PMID:25157968|PMID:25336117|PMID:25640679|PMID:25741868|PMID:26130666|PMID:26580448|PMID:26928227|PMID:27153395|PMID:27701467|PMID:28492532|PMID:28592523|PMID:28873162|PMID:29978744|PMID:30093976|PMID:30359545|PMID:30389923|PMID:30761385|PMID:30833958|PMID:31173267|PMID:3152525|PMID:3152526|PMID:33332384|PMID:35101336|PMID:9536098 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:999 hypereosinophilic syndrome ISO RGD:730916 D RGD:7240710 20180130 OMIM 12416245 PDGFRA platelet derived growth factor receptor alpha gene DOID:999 hypereosinophilic syndrome ISO RGD:730916 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypereosinophilic syndrome, idiopathic, resistant to imatinib | ClinVar Annotator: match by term: Idiopathic hypereosinophilic syndrome PMID:12660384|PMID:17576681|PMID:20071345|PMID:20169295|PMID:22703879|PMID:22718859|PMID:24033266|PMID:24728327|PMID:25336117|PMID:25741868|PMID:26928227|PMID:28492532|PMID:28873162|PMID:30093976|PMID:30359545|PMID:30389923|PMID:33332384|PMID:35101336|PMID:9536098 12416324 OGFOD2 2-oxoglutarate and iron dependent oxygenase domain containing 2 gene DOID:630 genetic disease ISO RGD:1606222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12416343 MAN1C1 mannosidase alpha class 1C member 1 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1320140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 12416343 MAN1C1 mannosidase alpha class 1C member 1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1320140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12416343 MAN1C1 mannosidase alpha class 1C member 1 gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:1320140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy PMID:21131290|PMID:21670436|PMID:28492532 12416343 MAN1C1 mannosidase alpha class 1C member 1 gene DOID:630 genetic disease ISO RGD:1320140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12416359 PLPBP pyridoxal phosphate binding protein gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1319041 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12416359 PLPBP pyridoxal phosphate binding protein gene DOID:0080769 early-onset vitamin B6-dependent epilepsy ISO RGD:1319041 D RGD:7240710 20190315 OMIM 12416359 PLPBP pyridoxal phosphate binding protein gene DOID:0080769 early-onset vitamin B6-dependent epilepsy ISO RGD:1319041 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epilepsy, early-onset, vitamin B6-dependent PMID:16199547|PMID:25741868|PMID:27912044|PMID:28391250|PMID:28492532|PMID:28914444|PMID:29689137|PMID:30160830|PMID:30525118|PMID:31687261|PMID:31737911|PMID:31741821|PMID:33766999|PMID:33977028 12416359 PLPBP pyridoxal phosphate binding protein gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1319041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 12416359 PLPBP pyridoxal phosphate binding protein gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1319041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 12416359 PLPBP pyridoxal phosphate binding protein gene DOID:607 paraplegia ISO RGD:1319041 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12416359 PLPBP pyridoxal phosphate binding protein gene DOID:630 genetic disease ISO RGD:1319041 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12416393 B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1313364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12416393 B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1313364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12416393 B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 gene DOID:2340 craniosynostosis ISO RGD:1313364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12416393 B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 gene DOID:630 genetic disease ISO RGD:1313364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12416393 B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1313364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12416393 B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 gene DOID:9269 maple syrup urine disease ISO RGD:1313364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12416399 ARAP1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1321262 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12416399 ARAP1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 gene DOID:1059 intellectual disability ISO RGD:1321262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12416399 ARAP1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 gene DOID:630 genetic disease ISO RGD:1321262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12416436 CPZ carboxypeptidase Z gene DOID:630 genetic disease ISO RGD:731300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12416436 CPZ carboxypeptidase Z gene DOID:9007661 Dwarfism ISO RGD:731300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12416451 ALOX15B arachidonate 15-lipoxygenase type B gene DOID:0060041 autism spectrum disorder ISO RGD:731629 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12416451 ALOX15B arachidonate 15-lipoxygenase type B gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:731629 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12416451 ALOX15B arachidonate 15-lipoxygenase type B gene DOID:0080600 COVID-19 ISO RGD:731629 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12416451 ALOX15B arachidonate 15-lipoxygenase type B gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:731629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 12416451 ALOX15B arachidonate 15-lipoxygenase type B gene DOID:12177 common variable immunodeficiency ISO RGD:731629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12416451 ALOX15B arachidonate 15-lipoxygenase type B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:731629 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12416451 ALOX15B arachidonate 15-lipoxygenase type B gene DOID:2729 dyskeratosis congenita ISO RGD:731629 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12416451 ALOX15B arachidonate 15-lipoxygenase type B gene DOID:3012 Li-Fraumeni syndrome ISO RGD:731629 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12416451 ALOX15B arachidonate 15-lipoxygenase type B gene DOID:630 genetic disease ISO RGD:731629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12416472 RBAK RB associated KRAB zinc finger gene DOID:10283 prostate cancer ISO RGD:1602691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12416472 RBAK RB associated KRAB zinc finger gene DOID:11372 megacolon ISO RGD:1602691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12416472 RBAK RB associated KRAB zinc finger gene DOID:630 genetic disease ISO RGD:1602691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12416492 HDX highly divergent homeobox gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12416492 HDX highly divergent homeobox gene DOID:12849 autistic disorder ISO RGD:1348226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12416492 HDX highly divergent homeobox gene DOID:630 genetic disease ISO RGD:1348226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12416515 NEPRO nucleolus and neural progenitor protein gene DOID:0080963 anauxetic dysplasia 3 ISO RGD:1352471 D RGD:7240710 20200520 OMIM 12416515 NEPRO nucleolus and neural progenitor protein gene DOID:0080963 anauxetic dysplasia 3 ISO RGD:1352471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia 3 PMID:25741868|PMID:26633546|PMID:29620724|PMID:31250547 12416515 NEPRO nucleolus and neural progenitor protein gene DOID:10907 microcephaly ISO RGD:1352471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12416515 NEPRO nucleolus and neural progenitor protein gene DOID:630 genetic disease ISO RGD:1352471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12416532 PCGF6 polycomb group ring finger 6 gene DOID:630 genetic disease ISO RGD:1353848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12416550 EFCAB10 EF-hand calcium binding domain 10 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:2301274 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25050558|PMID:25741868|PMID:28492532|PMID:32566746 12416550 EFCAB10 EF-hand calcium binding domain 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2301274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25050558|PMID:25741868|PMID:26787654|PMID:27544226|PMID:28492532|PMID:31173646|PMID:31204009|PMID:32566746|PMID:33471991 12416550 EFCAB10 EF-hand calcium binding domain 10 gene DOID:9008663 Infantile Liver Failure Syndrome 3 ISO RGD:2301274 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Infantile liver failure syndrome 3 PMID:17576681|PMID:24033266|PMID:25050558|PMID:25741868|PMID:26787654|PMID:28492532|PMID:9536098 12416559 ZBED5 zinc finger BED-type containing 5 gene DOID:630 genetic disease ISO RGD:1603615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12416586 NEFL neurofilament light chain gene DOID:0050328 congenital hypothyroidism ISO RGD:621458 D RGD:9068941 20200609 RGD protein:decreased expression, increased phosphorylation PMID:18845185|REF_RGD_ID:9693732 12416586 NEFL neurofilament light chain gene DOID:0050433 fatal familial insomnia ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:30048013|REF_RGD_ID:127285394 12416586 NEFL neurofilament light chain gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1344238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:12566280|PMID:22765307|PMID:25741868|PMID:26467025|PMID:28492532 12416586 NEFL neurofilament light chain gene DOID:0080294 Charcot-Marie-Tooth disease dominant intermediate G ISO RGD:1344238 D RGD:7240710 20190315 OMIM 12416586 NEFL neurofilament light chain gene DOID:0080294 Charcot-Marie-Tooth disease dominant intermediate G ISO RGD:1344238 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate G PMID:12477167|PMID:12566280|PMID:14733962|PMID:17052987|PMID:19158810|PMID:20301384|PMID:21493625|PMID:21840889|PMID:22206013|PMID:22288874|PMID:24887401|PMID:25448007|PMID:25552649|PMID:25741868|PMID:25741869|PMID:25877835|PMID:26109717|PMID:26467025|PMID:26645395|PMID:27206872|PMID:27549087|PMID:28492532|PMID:32376792 12416586 NEFL neurofilament light chain gene DOID:0080600 COVID-19 ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:serum (human) PMID:33743046|REF_RGD_ID:127284892 12416586 NEFL neurofilament light chain gene DOID:0080600 COVID-19 severity ISO RGD:1344238 D RGD:9068941 20210625 RGD associated with central neurological symptoms;protein:increased expression:CSF (human) PMID:33369818|REF_RGD_ID:127284893 12416586 NEFL neurofilament light chain gene DOID:0080600 COVID-19 severity ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:plasma (human) PMID:32546655|REF_RGD_ID:127284882 12416586 NEFL neurofilament light chain gene DOID:0080600 COVID-19 severity ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:serum (human) PMID:33377539|REF_RGD_ID:127285022 12416586 NEFL neurofilament light chain gene DOID:0080832 mild cognitive impairment ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:29391125|REF_RGD_ID:127285384 12416586 NEFL neurofilament light chain gene DOID:0110149 Charcot-Marie-Tooth disease type 1F ISO RGD:1344238 D RGD:7240710 20180130 OMIM 12416586 NEFL neurofilament light chain gene DOID:0110149 Charcot-Marie-Tooth disease type 1F ISO RGD:1344238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1f PMID:12477167|PMID:12481988|PMID:12566280|PMID:15111691|PMID:16452125|PMID:16930284|PMID:17052987|PMID:19123978|PMID:19158810|PMID:19286384|PMID:20039262|PMID:20301384|PMID:20421365|PMID:21168446|PMID:21493625|PMID:21840889|PMID:2288874|PMID:23230147|PMID:24078732|PMID:25448007|PMID:25552649|PMID:25741868|PMID:25741869|PMID:26467025|PMID:26645395|PMID:27206872|PMID:28492532|PMID:28501821|PMID:31574566|PMID:31673878|PMID:32376792 12416586 NEFL neurofilament light chain gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1344238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, Type 1C PMID:12481988|PMID:15111691|PMID:16452125|PMID:19286384|PMID:20421365|PMID:21168446|PMID:21493625|PMID:2288874|PMID:23230147|PMID:25741868|PMID:28492532|PMID:31574566 12416586 NEFL neurofilament light chain gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:1344238 D RGD:7240710 20180130 OMIM 12416586 NEFL neurofilament light chain gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:1344238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2E PMID:10841809|PMID:11220745|PMID:12393795|PMID:12477167|PMID:12481988|PMID:12566280|PMID:14733962|PMID:15111691|PMID:15241803|PMID:16199547|PMID:16452125|PMID:16619203|PMID:16930284|PMID:17052987|PMID:17576681|PMID:17620486|PMID:17881652|PMID:19123978|PMID:19158810|PMID:19286384|PMID:19458545|PMID:20039262|PMID:20301384|PMID:20421365|PMID:21149811|PMID:21168446|PMID:21493625|PMID:21840889|PMID:22155564|PMID:22206013|PMID:22288874|PMID:22765307|PMID:2288874|PMID:23230147|PMID:23618875|PMID:24078732|PMID:24887401|PMID:25264603|PMID:25448007|PMID:25552649|PMID:25583183|PMID:25741868|PMID:25741869|PMID:25802885|PMID:25877835|PMID:26109717|PMID:26392352|PMID:26467025|PMID:26645395|PMID:27206872|PMID:27549087|PMID:28492532|PMID:28501821|PMID:29888333|PMID:30373780|PMID:30393079|PMID:31574566|PMID:31788662|PMID:31827005|PMID:32376792|PMID:33201363|PMID:9536098 12416586 NEFL neurofilament light chain gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1344238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy 12416586 NEFL neurofilament light chain gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1344238 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:25741868|PMID:26467025|PMID:28492532 12416586 NEFL neurofilament light chain gene DOID:0111559 Charcot-Marie-Tooth disease type 2EE ISO RGD:1344238 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE PMID:25741868 12416586 NEFL neurofilament light chain gene DOID:10003 sensorineural hearing loss ISO RGD:1344238 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:12477167|PMID:12566280|PMID:19158810|PMID:20301384|PMID:21840889|PMID:25448007|PMID:25552649|PMID:25741868|PMID:25741869|PMID:26645395|PMID:27206872|PMID:28492532|PMID:32376792 12416586 NEFL neurofilament light chain gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1344238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11220745|PMID:12477167|PMID:12566280|PMID:14733962|PMID:16619203|PMID:16930284|PMID:17052987|PMID:17620486|PMID:17881652|PMID:19158810|PMID:19458545|PMID:20039262|PMID:20301384|PMID:21149811|PMID:21493625|PMID:21840889|PMID:22155564|PMID:22206013|PMID:22288874|PMID:22765307|PMID:23618875|PMID:24887401|PMID:25264603|PMID:25448007|PMID:25552649|PMID:25741868|PMID:25741869|PMID:25802885|PMID:25877835|PMID:26109717|PMID:26467025|PMID:26645395|PMID:27206872|PMID:27549087|PMID:28492532|PMID:28501821|PMID:30373780|PMID:31574566|PMID:31788662|PMID:32376792|PMID:33201363 12416586 NEFL neurofilament light chain gene DOID:10652 Alzheimer's disease ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:29368621|PMID:29391125|REF_RGD_ID:127284889|REF_RGD_ID:127285384 12416586 NEFL neurofilament light chain gene DOID:11446 sciatic neuropathy ISO RGD:621458 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:12638730|REF_RGD_ID:9743948 12416586 NEFL neurofilament light chain gene DOID:11446 sciatic neuropathy ISO RGD:621458 D RGD:9068941 20201211 RGD PMID:12445968|PMID:3135913|REF_RGD_ID:9693730|REF_RGD_ID:9743941 12416586 NEFL neurofilament light chain gene DOID:11720 distal myopathy ISO RGD:1344238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal muscle weakness PMID:12481988|PMID:15111691|PMID:16452125|PMID:19286384|PMID:21168446|PMID:25741868|PMID:28492532 12416586 NEFL neurofilament light chain gene DOID:11720 distal myopathy ISO RGD:1344238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal muscle weakness PMID:12481988|PMID:15111691|PMID:16452125|PMID:19286384|PMID:20421365|PMID:21168446|PMID:21493625|PMID:2288874|PMID:23230147|PMID:25741868|PMID:28492532|PMID:31574566 12416586 NEFL neurofilament light chain gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1344238 D RGD:9068941 20210618 RGD protein:increased expression:CSF, serum (human) PMID:27929120|REF_RGD_ID:127284887 12416586 NEFL neurofilament light chain gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:29368621|PMID:30309804|PMID:31541342|REF_RGD_ID:127284880|REF_RGD_ID:127284881|REF_RGD_ID:127284889 12416586 NEFL neurofilament light chain gene DOID:12217 Lewy body dementia ISO RGD:1344238 D RGD:9068941 20210618 RGD protein:increased expression:CSF (human) PMID:29368621|PMID:29391125|REF_RGD_ID:127284889|REF_RGD_ID:127285384 12416586 NEFL neurofilament light chain gene DOID:12377 spinal muscular atrophy ISO RGD:1344238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy 12416586 NEFL neurofilament light chain gene DOID:12894 Sjogren's syndrome ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:32423153|REF_RGD_ID:127284890 12416586 NEFL neurofilament light chain gene DOID:14330 Parkinson's disease ISO RGD:1344238 D RGD:9068941 20210618 RGD protein:increased expression:CSF (human) PMID:29391125|REF_RGD_ID:127285384 12416586 NEFL neurofilament light chain gene DOID:1459 hypothyroidism treatment ISO RGD:621458 D RGD:9068941 20200609 RGD PMID:10439464|REF_RGD_ID:9743942 12416586 NEFL neurofilament light chain gene DOID:1596 depressive disorder ISO RGD:621458 D RGD:9068941 20200609 RGD protein:decreased expression:dentate gyrus, hippocampus CA3 PMID:17683840|REF_RGD_ID:2299053 12416586 NEFL neurofilament light chain gene DOID:224 transient cerebral ischemia ISO RGD:621458 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:8726968|REF_RGD_ID:9743938 12416586 NEFL neurofilament light chain gene DOID:2377 multiple sclerosis ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:serum (human) PMID:33317883|REF_RGD_ID:127285024 12416586 NEFL neurofilament light chain gene DOID:2377 multiple sclerosis disease_progression ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expresssion:serum (human) PMID:31383792|REF_RGD_ID:127284875 12416586 NEFL neurofilament light chain gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1344238 D RGD:9068941 20210618 RGD protein:increased expression:CSF (human) PMID:33658322|REF_RGD_ID:127285027 12416586 NEFL neurofilament light chain gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1344238 D RGD:9068941 20210625 RGD associated with relapse;protein:increased expression:serum (human) PMID:30761586|REF_RGD_ID:127285025 12416586 NEFL neurofilament light chain gene DOID:3008 invasive ductal carcinoma ISO RGD:1344238 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity PMID:8814452|REF_RGD_ID:2298999 12416586 NEFL neurofilament light chain gene DOID:3213 demyelinating disease disease_progression ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expresssion:serum (human) PMID:31383792|REF_RGD_ID:127284875 12416586 NEFL neurofilament light chain gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:1344238 D RGD:9068941 20200609 RGD protein:increased expression:serum, csf PMID:26273687|REF_RGD_ID:13525006 12416586 NEFL neurofilament light chain gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:serum (human) PMID:30309882|REF_RGD_ID:127284877 12416586 NEFL neurofilament light chain gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:1552280 D RGD:9068941 20200609 RGD PMID:10686419|REF_RGD_ID:13525000 12416586 NEFL neurofilament light chain gene DOID:3525 middle cerebral artery infarction ISO RGD:1552280 D RGD:9068941 20201211 RGD protein:increased expression:brain PMID:29967576|REF_RGD_ID:27226878 12416586 NEFL neurofilament light chain gene DOID:4166 syphilis ISO RGD:1344238 D RGD:9068941 20210625 RGD associated with age;protein:increased expression:CSF (human) PMID:32117023|REF_RGD_ID:127285386 12416586 NEFL neurofilament light chain gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:1344238 D RGD:9068941 20210625 RGD PMID:30005007|REF_RGD_ID:127285390 12416586 NEFL neurofilament light chain gene DOID:574 peripheral nervous system disease ISO RGD:1344238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:12481988|PMID:15111691|PMID:16452125|PMID:19286384|PMID:20421365|PMID:21168446|PMID:21493625|PMID:2288874|PMID:23230147|PMID:25741868|PMID:28492532|PMID:31574566 12416586 NEFL neurofilament light chain gene DOID:630 genetic disease ISO RGD:1344238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11220745|PMID:12481988|PMID:12566280|PMID:15111691|PMID:16452125|PMID:16930284|PMID:17052987|PMID:17620486|PMID:17881652|PMID:19158810|PMID:19286384|PMID:19458545|PMID:20039262|PMID:20301384|PMID:20421365|PMID:21149811|PMID:21168446|PMID:21493625|PMID:22155564|PMID:22206013|PMID:2288874|PMID:23230147|PMID:23618875|PMID:24078732|PMID:25741868|PMID:25802885|PMID:26392352|PMID:26467025|PMID:28492532|PMID:28501821|PMID:30373780|PMID:31574566|PMID:33201363 12416586 NEFL neurofilament light chain gene DOID:639 acute disseminated encephalomyelitis disease_progression ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expresssion:serum (human) PMID:31383792|REF_RGD_ID:127284875 12416586 NEFL neurofilament light chain gene DOID:643 progressive multifocal leukoencephalopathy ISO RGD:1344238 D RGD:9068941 20210625 RGD associated with relapsing-remitting multiple sclerosis;protein:increased expression:serum (human) PMID:30761586|PMID:33903203|REF_RGD_ID:127284888|REF_RGD_ID:127285025 12416586 NEFL neurofilament light chain gene DOID:870 neuropathy ISO RGD:1344238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:12481988|PMID:15111691|PMID:16452125|PMID:19286384|PMID:20421365|PMID:21168446|PMID:21493625|PMID:2288874|PMID:23230147|PMID:25741868|PMID:28492532|PMID:31574566 12416586 NEFL neurofilament light chain gene DOID:8725 vascular dementia ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:29391125|REF_RGD_ID:127285384 12416586 NEFL neurofilament light chain gene DOID:8869 neuromyelitis optica ISO RGD:1344238 D RGD:9068941 20210618 RGD protein:increased expression:serum (human) PMID:33317883|REF_RGD_ID:127285024 12416586 NEFL neurofilament light chain gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:621458 D RGD:9068941 20200609 RGD PMID:18772508|REF_RGD_ID:9698443 12416586 NEFL neurofilament light chain gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF, serum (human) PMID:27929120|REF_RGD_ID:127284887 12416586 NEFL neurofilament light chain gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease severity ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:29391125|REF_RGD_ID:127285384 12416586 NEFL neurofilament light chain gene DOID:9001414 Neurosyphilis disease_progression ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:32117023|REF_RGD_ID:127285386 12416586 NEFL neurofilament light chain gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1344238 D RGD:9068941 20210618 RGD protein:increased expression:CSF (human) PMID:29368621|REF_RGD_ID:127284889 12416586 NEFL neurofilament light chain gene DOID:9002498 Wallerian Degeneration ISO RGD:621458 D RGD:9068941 20200609 RGD protein:decreased expression:neuron PMID:10646539|REF_RGD_ID:9698439 12416586 NEFL neurofilament light chain gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:621458 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid, spinal cord PMID:16182933|REF_RGD_ID:2299007 12416586 NEFL neurofilament light chain gene DOID:9003034 Anti-N-Methyl-D-Aspartate Receptor Encephalitis treatment ISO RGD:1344238 D RGD:9068941 20200609 RGD PMID:31313506|REF_RGD_ID:27226816 12416586 NEFL neurofilament light chain gene DOID:9003284 HIV Seropositivity treatment ISO RGD:1344238 D RGD:9068941 20210625 RGD PMID:30105502|REF_RGD_ID:127284876 12416586 NEFL neurofilament light chain gene DOID:9004086 AIDS Dementia Complex ISO RGD:1344238 D RGD:9068941 20210618 RGD protein:increased expression:CSF (human) PMID:27400930|REF_RGD_ID:127284885 12416586 NEFL neurofilament light chain gene DOID:9004086 AIDS Dementia Complex ISO RGD:1344238 D RGD:9068941 20210625 RGD associated with HIV Seropositivity;protein:increased expression:plasma, CSF (human) PMID:30105502|REF_RGD_ID:127284876 12416586 NEFL neurofilament light chain gene DOID:9004484 Sepsis disease_progression ISO RGD:1344238 D RGD:9068941 20200609 RGD PMID:30677080|REF_RGD_ID:27226881 12416586 NEFL neurofilament light chain gene DOID:9005695 Malnutrition ISO RGD:621458 D RGD:9068941 20201211 RGD protein:increased expression:cerebral cortex PMID:1908892|REF_RGD_ID:40902817 12416586 NEFL neurofilament light chain gene DOID:9007096 Stroke ISO RGD:1344238 D RGD:9068941 20200609 RGD PMID:29967576|REF_RGD_ID:27226878 12416586 NEFL neurofilament light chain gene DOID:9007842 Sepsis-Associated Encephalopathy disease_progression ISO RGD:1344238 D RGD:9068941 20200609 RGD PMID:30677080|REF_RGD_ID:27226881 12416586 NEFL neurofilament light chain gene DOID:9008305 Talipes Cavus ISO RGD:1344238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pes cavus PMID:12481988|PMID:15111691|PMID:16452125|PMID:19286384|PMID:20421365|PMID:21168446|PMID:21493625|PMID:2288874|PMID:23230147|PMID:25741868|PMID:28492532|PMID:31574566 12416586 NEFL neurofilament light chain gene DOID:9255 frontotemporal dementia ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:29391125|REF_RGD_ID:127285384 12416601 LOC102151858 USP6 N-terminal-like protein gene DOID:12849 autistic disorder ISO RGD:9587677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12416601 LOC102151858 USP6 N-terminal-like protein gene DOID:5419 schizophrenia ISO RGD:9587677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12416701 LRGUK leucine rich repeats and guanylate kinase domain containing gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12416701 LRGUK leucine rich repeats and guanylate kinase domain containing gene DOID:630 genetic disease ISO RGD:1603904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12416733 STX10 syntaxin 10 gene DOID:0050858 Marshall-Smith syndrome ISO RGD:1353548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome PMID:20673863|PMID:23495138|PMID:25118028|PMID:25736188|PMID:26927468|PMID:27688808|PMID:28492532|PMID:29184170 12416733 STX10 syntaxin 10 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1353548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532|PMID:29184170 12416733 STX10 syntaxin 10 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1353548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12416733 STX10 syntaxin 10 gene DOID:0111254 glutaric acidemia I ISO RGD:1353548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 12416733 STX10 syntaxin 10 gene DOID:3413 alpha-mannosidosis ISO RGD:1353548 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12416733 STX10 syntaxin 10 gene DOID:630 genetic disease ISO RGD:1353548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12416750 ACP5 acid phosphatase 5, tartrate resistant gene DOID:0050990 episodic ataxia type 2 ISO RGD:10073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12416750 ACP5 acid phosphatase 5, tartrate resistant gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:10073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12416750 ACP5 acid phosphatase 5, tartrate resistant gene DOID:0111254 glutaric acidemia I ISO RGD:10073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12416750 ACP5 acid phosphatase 5, tartrate resistant gene DOID:12466 secondary hyperparathyroidism ISO RGD:10073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21985997|PMID:22373954 12416750 ACP5 acid phosphatase 5, tartrate resistant gene DOID:3413 alpha-mannosidosis ISO RGD:10073 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12416750 ACP5 acid phosphatase 5, tartrate resistant gene DOID:630 genetic disease ISO RGD:10073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:13524805|PMID:21217752|PMID:21217755|PMID:2363422|PMID:25741868|PMID:26951490|PMID:27125509|PMID:27390188|PMID:28492532|PMID:28740483 12416750 ACP5 acid phosphatase 5, tartrate resistant gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:10073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12416750 ACP5 acid phosphatase 5, tartrate resistant gene DOID:9003845 Stress Fractures ISO RGD:2022 D RGD:9068941 20200609 RGD protein:increased expression:tibia (rat) PMID:19821772|REF_RGD_ID:2315909 12416750 ACP5 acid phosphatase 5, tartrate resistant gene DOID:9003917 Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia ISO RGD:10073 D RGD:7240710 20180130 OMIM 12416750 ACP5 acid phosphatase 5, tartrate resistant gene DOID:9003917 Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia ISO RGD:10073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation PMID:12786759|PMID:13524805|PMID:16470600|PMID:17576681|PMID:18924170|PMID:21217752|PMID:21217755|PMID:2363422|PMID:24033266|PMID:25741868|PMID:26346816|PMID:26789720|PMID:26951490|PMID:27125509|PMID:27390188|PMID:27718324|PMID:28492532|PMID:28740483|PMID:32214327|PMID:9536098 12416750 ACP5 acid phosphatase 5, tartrate resistant gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:2022 D RGD:9068941 20200609 RGD protein:increased expression:femur (rat) PMID:19736603|REF_RGD_ID:2315910 12416750 ACP5 acid phosphatase 5, tartrate resistant gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2022 D RGD:9068941 20200609 RGD protein:increased activity:femoral bone (rat) PMID:19699734|REF_RGD_ID:2315882 12416750 ACP5 acid phosphatase 5, tartrate resistant gene DOID:9007945 Spondyloenchondrodysplasia ISO RGD:10073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21217752|PMID:21217755 12416750 ACP5 acid phosphatase 5, tartrate resistant gene DOID:9970 obesity ISO RGD:10073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12416766 CTNNBL1 catenin beta like 1 gene DOID:11981 morbid obesity no_association ISO RGD:1346196 D RGD:9068941 20200609 RGD DNA:snps:introns:IVS7+3134G>T, IVS7-79A>G (rs6013029, rs6020846) (human) PMID:19228371|REF_RGD_ID:9850253 12416766 CTNNBL1 catenin beta like 1 gene DOID:11981 morbid obesity susceptibility ISO RGD:1346196 D RGD:9068941 20200609 RGD DNA:snps:introns:IVS7+3134G>T, IVS7-79A>G (rs6013029, rs6020846) (human) PMID:19245693|REF_RGD_ID:9850251 12416766 CTNNBL1 catenin beta like 1 gene DOID:2234 focal epilepsy ISO RGD:1346196 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12416766 CTNNBL1 catenin beta like 1 gene DOID:630 genetic disease ISO RGD:1346196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12416766 CTNNBL1 catenin beta like 1 gene DOID:9003255 Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias ISO RGD:1346196 D RGD:7240710 20220518 OMIM 12416766 CTNNBL1 catenin beta like 1 gene DOID:9003255 Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias ISO RGD:1346196 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias PMID:32484799 12416766 CTNNBL1 catenin beta like 1 gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1346196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 12416766 CTNNBL1 catenin beta like 1 gene DOID:9256 colorectal cancer ISO RGD:1346196 D RGD:9068941 20200609 RGD DNA:snps:introns: c.326+4380A>G, c.1213+1838T>C, c.1393-7258G>A (rs2344481, rs2281148, rs2235460) (human) PMID:21537400|REF_RGD_ID:9850254 12416790 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1323042 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:15329069|PMID:23542697|PMID:24814846|PMID:25741868|PMID:28492532|PMID:28549235|PMID:31639411 12416790 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:0080462 developmental and epileptic encephalopathy 7 ISO RGD:1323042 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Continuous spike and waves during slow-wave sleep syndrome PMID:25741868|PMID:28492532 12416790 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1323042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25741868|PMID:28492532|PMID:28549235|PMID:31639411 12416790 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1323042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 12416790 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:0112218 developmental and epileptic encephalopathy 83 ISO RGD:1323042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 83 PMID:25741868|PMID:28492532 12416790 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:1059 intellectual disability ISO RGD:1323042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23542697|PMID:23542701|PMID:25741868|PMID:26467025|PMID:28492532 12416790 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:11832 visual epilepsy ISO RGD:1323042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:14510823|PMID:20864493|PMID:23542697|PMID:23542701|PMID:23869883|PMID:24283814|PMID:25366275|PMID:25599672|PMID:25741868|PMID:26000329|PMID:26467025|PMID:26505888|PMID:27066554|PMID:28102150|PMID:28166811|PMID:28492532|PMID:28717674|PMID:29356177|PMID:29358611|PMID:30093711 12416790 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:11832 visual epilepsy ISO RGD:1323042 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure PMID:14510823|PMID:20864493|PMID:23542697|PMID:23542701|PMID:23869883|PMID:24283814|PMID:25366275|PMID:25599672|PMID:25741868|PMID:26000329|PMID:26467025|PMID:26505888|PMID:27066554|PMID:28102150|PMID:28492532|PMID:28717674|PMID:29356177|PMID:29358611 12416790 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:1826 epilepsy ISO RGD:1323042 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:14510823|PMID:20864493|PMID:23542697|PMID:23542701|PMID:23869883|PMID:24283814|PMID:25366275|PMID:25599672|PMID:25741868|PMID:26000329|PMID:26467025|PMID:26505888|PMID:27066554|PMID:28102150|PMID:28492532|PMID:28717674|PMID:29356177|PMID:29358611 12416790 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:1826 epilepsy ISO RGD:1323042 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:10825362|PMID:14510823|PMID:20864493|PMID:23542697|PMID:23542701|PMID:23869883|PMID:24283814|PMID:25366275|PMID:25599672|PMID:25623524|PMID:25741868|PMID:26000329|PMID:26467025|PMID:26505888|PMID:27066554|PMID:28102150|PMID:28492532|PMID:28717674|PMID:29356177|PMID:29358611|PMID:30767899|PMID:32848577 12416790 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:1826 epilepsy ISO RGD:1323042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:10825362|PMID:16199547|PMID:23542697|PMID:23542701|PMID:25623524|PMID:25741868|PMID:28492532|PMID:30093711 12416790 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:3070 high grade glioma ISO RGD:1323042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12416790 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1323042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:24591017|PMID:25366275|PMID:25741868|PMID:26505888|PMID:28166811|PMID:28492532|PMID:29358611 12416790 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:630 genetic disease ISO RGD:1323042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14510823|PMID:16199547|PMID:17576681|PMID:20864493|PMID:22780917|PMID:23542697|PMID:23542701|PMID:23609619|PMID:23869883|PMID:24283814|PMID:24585383|PMID:25366275|PMID:25599672|PMID:25741868|PMID:26000329|PMID:26467025|PMID:26505888|PMID:26704558|PMID:27066554|PMID:28102150|PMID:28170089|PMID:28492532|PMID:28717674|PMID:29057844|PMID:29356177|PMID:29358611|PMID:30093711|PMID:30427063|PMID:30767899|PMID:31139143|PMID:31594065|PMID:32848577|PMID:9536098|PMID:9851433 12416790 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1323042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21725309 12416790 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1323042 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 12416790 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:9001601 Familial Focal Epilepsy, with Variable Foci 1 ISO RGD:1323042 D RGD:7240710 20180130 OMIM 12416790 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:9001601 Familial Focal Epilepsy, with Variable Foci 1 ISO RGD:1323042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DEPDC5-Related Disorder | ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 1 | ClinVar Annotator: match by term: Familial focal epilepsy with variable foci PMID:10577924|PMID:10825362|PMID:14510823|PMID:15329069|PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:20864493|PMID:22406018|PMID:22780917|PMID:23542697|PMID:23542701|PMID:23609619|PMID:23869883|PMID:24283814|PMID:24585383|PMID:24591017|PMID:24814846|PMID:25366275|PMID:25599672|PMID:25623524|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25989649|PMID:26000329|PMID:26216793|PMID:26467025|PMID:26505888|PMID:26704558|PMID:27066544|PMID:27066554|PMID:27066565|PMID:27159400|PMID:27173016|PMID:28102150|PMID:28166811|PMID:28170089|PMID:28199897|PMID:28492532|PMID:28549235|PMID:28677221|PMID:28717674|PMID:29057844|PMID:29356177|PMID:29358611|PMID:29761115|PMID:30093711|PMID:30166713|PMID:30427063|PMID:30525188|PMID:30767899|PMID:31139143|PMID:31594065|PMID:31639411|PMID:31875159|PMID:31957018|PMID:32086284|PMID:32848577|PMID:34239491|PMID:9536098|PMID:9851433 12416790 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:9007 sudden infant death syndrome ISO RGD:1323042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 12416790 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1323042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12416790 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:9008582 Developmental Disease ISO RGD:1323042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12416853 FAM204A family with sequence similarity 204 member A gene DOID:630 genetic disease ISO RGD:1313564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12416872 TSC22D4 TSC22 domain family member 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12416872 TSC22D4 TSC22 domain family member 4 gene DOID:630 genetic disease ISO RGD:1601955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12416881 AMZ2 archaelysin family metallopeptidase 2 gene DOID:630 genetic disease ISO RGD:1605392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12416881 AMZ2 archaelysin family metallopeptidase 2 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:1605392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 12416894 UBA1 ubiquitin like modifier activating enzyme 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12416894 UBA1 ubiquitin like modifier activating enzyme 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1604847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 12416894 UBA1 ubiquitin like modifier activating enzyme 1 gene DOID:0080828 VEXAS syndrome ISO RGD:1604847 D RGD:7240710 20201202 OMIM 12416894 UBA1 ubiquitin like modifier activating enzyme 1 gene DOID:0080828 VEXAS syndrome ISO RGD:1604847 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: VEXAS syndrome PMID:25741868|PMID:28492532|PMID:33108101|PMID:33690815|PMID:34048852|PMID:34647982|PMID:34649277|PMID:35793467 12416894 UBA1 ubiquitin like modifier activating enzyme 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1604847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12416894 UBA1 ubiquitin like modifier activating enzyme 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1604847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12416894 UBA1 ubiquitin like modifier activating enzyme 1 gene DOID:0111827 X-linked spinal muscular atrophy 2 ISO RGD:1604847 D RGD:7240710 20180130 OMIM 12416894 UBA1 ubiquitin like modifier activating enzyme 1 gene DOID:0111827 X-linked spinal muscular atrophy 2 ISO RGD:1604847 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Infantile-onset X-linked spinal muscular atrophy PMID:16199547|PMID:17576681|PMID:18179898|PMID:20301739|PMID:25075304|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29034082|PMID:32181232|PMID:33108101|PMID:33369814|PMID:33690815|PMID:34048852|PMID:34647982|PMID:34649277|PMID:35793467|PMID:9536098 12416894 UBA1 ubiquitin like modifier activating enzyme 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1604847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 12416894 UBA1 ubiquitin like modifier activating enzyme 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1604847 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12416894 UBA1 ubiquitin like modifier activating enzyme 1 gene DOID:12849 autistic disorder ISO RGD:1604847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12416894 UBA1 ubiquitin like modifier activating enzyme 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1604847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19014429 12416894 UBA1 ubiquitin like modifier activating enzyme 1 gene DOID:630 genetic disease ISO RGD:1604847 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18179898|PMID:20301739|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33108101|PMID:33690815|PMID:34048852|PMID:34647982|PMID:34649277|PMID:35793467|PMID:9536098 12416894 UBA1 ubiquitin like modifier activating enzyme 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12416923 RAB3IP RAB3A interacting protein gene DOID:630 genetic disease ISO RGD:732155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12416961 PTPRR protein tyrosine phosphatase receptor type R gene DOID:630 genetic disease ISO RGD:1348456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12416984 POMK protein O-mannose kinase gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1602085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12416984 POMK protein O-mannose kinase gene DOID:0090039 torsion dystonia 6 ISO RGD:1602085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 12416984 POMK protein O-mannose kinase gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:1602085 D RGD:7240710 20180130 OMIM 12416984 POMK protein O-mannose kinase gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:1602085 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 PMID:17576681|PMID:23519211|PMID:24556084|PMID:24925318|PMID:25741868|PMID:27879205|PMID:28492532|PMID:29910097|PMID:30060766|PMID:32907597|PMID:9536098 12416984 POMK protein O-mannose kinase gene DOID:0111393 mucopolysaccharidosis type IIIC ISO RGD:1602085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C PMID:17033958|PMID:19479962|PMID:28492532 12416984 POMK protein O-mannose kinase gene DOID:0111959 immunodeficiency 15B ISO RGD:1602085 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 12416984 POMK protein O-mannose kinase gene DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 ISO RGD:1602085 D RGD:7240710 20180130 OMIM 12416984 POMK protein O-mannose kinase gene DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 ISO RGD:1602085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy due to POMK deficiency PMID:24556084|PMID:24925318|PMID:25741868|PMID:28492532|PMID:29910097 12416984 POMK protein O-mannose kinase gene DOID:10908 hydrocephalus ISO RGD:1321928 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 12416984 POMK protein O-mannose kinase gene DOID:630 genetic disease ISO RGD:1602085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12416984 POMK protein O-mannose kinase gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1602085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 12417014 MCF2L MCF.2 cell line derived transforming sequence like gene DOID:2222 factor X deficiency ISO RGD:737008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 12417014 MCF2L MCF.2 cell line derived transforming sequence like gene DOID:630 genetic disease ISO RGD:737008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417077 CSRNP1 cysteine and serine rich nuclear protein 1 gene DOID:0080600 COVID-19 ISO RGD:1314362 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12417077 CSRNP1 cysteine and serine rich nuclear protein 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314362 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16243910 12417077 CSRNP1 cysteine and serine rich nuclear protein 1 gene DOID:630 genetic disease ISO RGD:1314362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417077 CSRNP1 cysteine and serine rich nuclear protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1314362 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12417120 ARHGDIB Rho GDP dissociation inhibitor beta gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1313380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12417120 ARHGDIB Rho GDP dissociation inhibitor beta gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1313380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12417120 ARHGDIB Rho GDP dissociation inhibitor beta gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12417120 ARHGDIB Rho GDP dissociation inhibitor beta gene DOID:630 genetic disease ISO RGD:1313380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417120 ARHGDIB Rho GDP dissociation inhibitor beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12417120 ARHGDIB Rho GDP dissociation inhibitor beta gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1313380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 12417131 STOML1 stomatin like 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1347763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12417131 STOML1 stomatin like 1 gene DOID:2717 Bloom syndrome ISO RGD:1347763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12417131 STOML1 stomatin like 1 gene DOID:5419 schizophrenia ISO RGD:1347763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12417131 STOML1 stomatin like 1 gene DOID:630 genetic disease ISO RGD:1347763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417131 STOML1 stomatin like 1 gene DOID:9256 colorectal cancer ISO RGD:1347763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12417152 HEG1 heart development protein with EGF like domains 1 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1603204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12417152 HEG1 heart development protein with EGF like domains 1 gene DOID:630 genetic disease ISO RGD:1603204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417152 HEG1 heart development protein with EGF like domains 1 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1603204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 12417152 HEG1 heart development protein with EGF like domains 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1603204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 12417152 HEG1 heart development protein with EGF like domains 1 gene DOID:9270 alkaptonuria ISO RGD:1603204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12417174 DLG1 discs large MAGUK scaffold protein 1 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:731903 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 12417174 DLG1 discs large MAGUK scaffold protein 1 gene DOID:12849 autistic disorder ISO RGD:731903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12417174 DLG1 discs large MAGUK scaffold protein 1 gene DOID:14330 Parkinson's disease ISO RGD:2505 D RGD:9068941 20200609 RGD protein:altered localization, decreased expression:striatum:redistribution from synapse to vesicles PMID:15703272|REF_RGD_ID:2306834 12417174 DLG1 discs large MAGUK scaffold protein 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:731903 D RGD:9068941 20200609 RGD DNA:mutation:CDS:multiple nonsynonymous mutations PMID:14871824|REF_RGD_ID:2306813 12417174 DLG1 discs large MAGUK scaffold protein 1 gene DOID:5419 schizophrenia ISO RGD:731903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12417174 DLG1 discs large MAGUK scaffold protein 1 gene DOID:630 genetic disease ISO RGD:731903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417174 DLG1 discs large MAGUK scaffold protein 1 gene DOID:674 cleft palate ISO RGD:731903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11238884 12417174 DLG1 discs large MAGUK scaffold protein 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:731903 D RGD:9068941 20200609 RGD protein:decreased expression:cervical lesions:targetted by the HPV oncoprotein E6 for ubiquitin-mediated proteolysis PMID:15221964|REF_RGD_ID:2306812 12417237 H1-2 H1.2 linker histone, cluster member gene DOID:630 genetic disease ISO RGD:1343160 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417237 H1-2 H1.2 linker histone, cluster member gene DOID:9008939 Breast Neoplasms ISO RGD:1343160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 12417237 H1-2 H1.2 linker histone, cluster member gene DOID:9119 acute myeloid leukemia ISO RGD:1343160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12417237 H1-2 H1.2 linker histone, cluster member gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:1343160 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:enhancer: (rs807212) (human) PMID:19806355|REF_RGD_ID:10755490 12417242 SLC34A2 solute carrier family 34 member 2 gene DOID:12117 pulmonary alveolar microlithiasis ISO RGD:733113 D RGD:7240710 20180130 OMIM 12417242 SLC34A2 solute carrier family 34 member 2 gene DOID:12117 pulmonary alveolar microlithiasis ISO RGD:733113 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: PULMONARY ALVEOLAR MICROLITHIASIS PMID:11287838|PMID:16960801|PMID:24033266|PMID:25741868|PMID:28492532 12417242 SLC34A2 solute carrier family 34 member 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22617245|PMID:22919003 12417242 SLC34A2 solute carrier family 34 member 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12417242 SLC34A2 solute carrier family 34 member 2 gene DOID:630 genetic disease ISO RGD:733113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12417242 SLC34A2 solute carrier family 34 member 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:733113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15805072 12417259 NECAB2 N-terminal EF-hand calcium binding protein 2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1345623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12417259 NECAB2 N-terminal EF-hand calcium binding protein 2 gene DOID:630 genetic disease ISO RGD:1345623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417259 NECAB2 N-terminal EF-hand calcium binding protein 2 gene DOID:9005126 Malonic Aciduria ISO RGD:1345623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of malonyl-CoA decarboxylase PMID:12955715|PMID:17186413|PMID:28492532 12417259 NECAB2 N-terminal EF-hand calcium binding protein 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1345623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12417276 TMEM208 transmembrane protein 208 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12417276 TMEM208 transmembrane protein 208 gene DOID:630 genetic disease ISO RGD:1605689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417286 ERO1A endoplasmic reticulum oxidoreductase 1 alpha gene DOID:630 genetic disease ISO RGD:1317870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417286 ERO1A endoplasmic reticulum oxidoreductase 1 alpha gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:621713 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:12694393|REF_RGD_ID:632668 12417306 PPY pancreatic polypeptide gene DOID:630 genetic disease ISO RGD:737129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417315 PTPA protein phosphatase 2 phosphatase activator gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1318076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12417315 PTPA protein phosphatase 2 phosphatase activator gene DOID:630 genetic disease ISO RGD:1318076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417315 PTPA protein phosphatase 2 phosphatase activator gene DOID:9000217 Stomach Neoplasms ISO RGD:1318076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12417315 PTPA protein phosphatase 2 phosphatase activator gene DOID:9000918 Disease Progression ISO RGD:1318076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12417340 PFN1 profilin 1 gene DOID:0050941 spastic ataxia 2 ISO RGD:733332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 12417340 PFN1 profilin 1 gene DOID:0060209 amyotrophic lateral sclerosis type 18 ISO RGD:733332 D RGD:7240710 20180130 OMIM 12417340 PFN1 profilin 1 gene DOID:0060209 amyotrophic lateral sclerosis type 18 ISO RGD:733332 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 18 PMID:22801503|PMID:25741868|PMID:26908597|PMID:28492532|PMID:31346562|PMID:31991009|PMID:32392277|PMID:32589291 12417340 PFN1 profilin 1 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:733332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 12417340 PFN1 profilin 1 gene DOID:1289 neurodegenerative disease ISO RGD:733332 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:25741868|PMID:26908597|PMID:31346562|PMID:31991009|PMID:32392277|PMID:32589291 12417340 PFN1 profilin 1 gene DOID:1793 pancreatic cancer ISO RGD:733332 D RGD:9068941 20200609 RGD PMID:16215274|REF_RGD_ID:2317552 12417340 PFN1 profilin 1 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:621825 D RGD:9068941 20200609 RGD PMID:8651905|REF_RGD_ID:729497 12417340 PFN1 profilin 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:733332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532 12417340 PFN1 profilin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:733332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12417340 PFN1 profilin 1 gene DOID:630 genetic disease ISO RGD:733332 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417340 PFN1 profilin 1 gene DOID:9000058 Keloid ISO RGD:733332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12417340 PFN1 profilin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12417346 LOC607405 C-type lectin domain family 10 member A gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1603407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12417346 LOC607405 C-type lectin domain family 10 member A gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1603407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 12417346 LOC607405 C-type lectin domain family 10 member A gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1603407 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12417346 LOC607405 C-type lectin domain family 10 member A gene DOID:12177 common variable immunodeficiency ISO RGD:1603407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12417346 LOC607405 C-type lectin domain family 10 member A gene DOID:2729 dyskeratosis congenita ISO RGD:1603407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12417346 LOC607405 C-type lectin domain family 10 member A gene DOID:630 genetic disease ISO RGD:1603407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417346 LOC607405 C-type lectin domain family 10 member A gene DOID:9007102 Myocardial Ischemia ISO RGD:1603407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12417370 ESPL1 extra spindle pole bodies like 1, separase gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1314788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12417370 ESPL1 extra spindle pole bodies like 1, separase gene DOID:0080600 COVID-19 ISO RGD:1314788 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12417370 ESPL1 extra spindle pole bodies like 1, separase gene DOID:11054 urinary bladder cancer ISO RGD:1314788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121792 12417370 ESPL1 extra spindle pole bodies like 1, separase gene DOID:1612 breast cancer ISO RGD:1550440 D RGD:9068941 20220825 MouseDO OMIM:114480 12417370 ESPL1 extra spindle pole bodies like 1, separase gene DOID:2671 transitional cell carcinoma ISO RGD:1314788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121792 12417370 ESPL1 extra spindle pole bodies like 1, separase gene DOID:630 genetic disease ISO RGD:1314788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417370 ESPL1 extra spindle pole bodies like 1, separase gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1314788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 12417407 CXCR6 C-X-C motif chemokine receptor 6 gene DOID:418 systemic scleroderma ISO RGD:1352090 D RGD:9068941 20200609 RGD protein:increased expression:skin, endothelial cell PMID:21303517|REF_RGD_ID:5135279 12417407 CXCR6 C-X-C motif chemokine receptor 6 gene DOID:630 genetic disease ISO RGD:1352090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417407 CXCR6 C-X-C motif chemokine receptor 6 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1352090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12417413 PABIR1 PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1 gene DOID:630 genetic disease ISO RGD:1321149 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417418 SGCA sarcoglycan alpha gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1317616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:25741868|PMID:28492532 12417418 SGCA sarcoglycan alpha gene DOID:0050700 cardiomyopathy ISO RGD:1317616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12746421|PMID:18285821|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31931849 12417418 SGCA sarcoglycan alpha gene DOID:0060224 atrial fibrillation ISO RGD:1317616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12417418 SGCA sarcoglycan alpha gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1317616 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:10942431|PMID:12075495|PMID:12566530|PMID:12746421|PMID:15298081|PMID:17994539|PMID:18285821|PMID:18421900|PMID:18535179|PMID:18996010|PMID:19798725|PMID:21031578|PMID:22095924|PMID:24033266|PMID:24565866|PMID:24742800|PMID:25135358|PMID:25214167|PMID:25741868|PMID:26404900|PMID:26453141|PMID:26467025|PMID:26916285|PMID:26934379|PMID:27120200|PMID:28403181|PMID:28492532|PMID:29382405|PMID:30703231|PMID:30764848|PMID:30919934|PMID:31407473|PMID:31517061|PMID:31791368|PMID:31847883|PMID:7663524|PMID:7668821|PMID:8069911|PMID:9032047|PMID:9153448|PMID:9192266|PMID:9393893|PMID:9585331 12417418 SGCA sarcoglycan alpha gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ISO RGD:1317616 D RGD:7240710 20180130 OMIM 12417418 SGCA sarcoglycan alpha gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ISO RGD:1317616 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D | ClinVar Annotator: match by term: Duchenne-like autosomal recessive muscular dystrophy, type 2 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Sarcoglycanopathy PMID:10842281|PMID:10942431|PMID:10993494|PMID:11121445|PMID:11475588|PMID:11693784|PMID:12075495|PMID:12566530|PMID:12746421|PMID:14595658|PMID:15298081|PMID:15736300|PMID:15833425|PMID:16199547|PMID:16616845|PMID:16778590|PMID:16787395|PMID:17562833|PMID:17576681|PMID:17994539|PMID:18252745|PMID:18285821|PMID:18414213|PMID:18421900|PMID:18535179|PMID:18996010|PMID:19781108|PMID:19798725|PMID:19835634|PMID:20623375|PMID:21031578|PMID:21856579|PMID:22095924|PMID:22303798|PMID:24033266|PMID:24464767|PMID:24565866|PMID:24742800|PMID:25046369|PMID:25106685|PMID:25135358|PMID:25214167|PMID:25741868|PMID:26404900|PMID:26453141|PMID:26467025|PMID:26916285|PMID:26934379|PMID:26944168|PMID:27066551|PMID:27120200|PMID:27363342|PMID:27906075|PMID:28403181|PMID:28492532|PMID:28687063|PMID:29351619|PMID:29382405|PMID:29970176|PMID:30107846|PMID:30218921|PMID:30345904|PMID:30564623|PMID:30703231|PMID:30764848|PMID:30838351|PMID:30919934|PMID:31061434|PMID:31066050|PMID:31069529|PMID:31127727|PMID:31130284|PMID:31268554|PMID:31407473|PMID:31517061|PMID:31791368|PMID:31847883|PMID:31931849|PMID:32528171|PMID:32875335|PMID:33386810|PMID:7657792|PMID:7663524|PMID:7668821|PMID:8069911|PMID:8528203|PMID:8866424|PMID:9032047|PMID:9153448|PMID:9192266|PMID:9266733|PMID:9393893|PMID:9455986|PMID:9536098|PMID:9585331 12417418 SGCA sarcoglycan alpha gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D treatment ISO RGD:1317616 D RGD:9068941 20200609 RGD PMID:17653106|REF_RGD_ID:13605612 12417418 SGCA sarcoglycan alpha gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:1317616 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:17078022|PMID:19344236|PMID:23949819|PMID:25944380|PMID:26478226|PMID:28492532|PMID:7695699|PMID:7942841|PMID:8218237|PMID:9016532|PMID:9295084|PMID:9443882 12417418 SGCA sarcoglycan alpha gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 12417418 SGCA sarcoglycan alpha gene DOID:630 genetic disease ISO RGD:1317616 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12417418 SGCA sarcoglycan alpha gene DOID:767 muscular atrophy ISO RGD:1308062 D RGD:9068941 20200609 RGD protein:decreased expression:gastrocnemius PMID:12107060|REF_RGD_ID:625642 12417418 SGCA sarcoglycan alpha gene DOID:9884 muscular dystrophy ISO RGD:1317616 D RGD:9068941 20200609 RGD PMID:8069911|PMID:9192266|REF_RGD_ID:1599344|REF_RGD_ID:1599345 12417418 SGCA sarcoglycan alpha gene DOID:9884 muscular dystrophy ISO RGD:1317617 D RGD:9068941 20200609 RGD PMID:9744877|REF_RGD_ID:13605611 12417435 VANGL2 VANGL planar cell polarity protein 2 gene DOID:0080016 spina bifida ISO RGD:1319787 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:21404367 12417435 VANGL2 VANGL planar cell polarity protein 2 gene DOID:0080074 neural tube defect ISO RGD:1319787 D RGD:7240710 20230505 OMIM 12417435 VANGL2 VANGL planar cell polarity protein 2 gene DOID:0080074 neural tube defect ISO RGD:1319787 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: Neural tube defects, susceptibility to PMID:20558380|PMID:25741868 12417435 VANGL2 VANGL planar cell polarity protein 2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1319787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12417435 VANGL2 VANGL planar cell polarity protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1319787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12417435 VANGL2 VANGL planar cell polarity protein 2 gene DOID:630 genetic disease ISO RGD:1319787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417435 VANGL2 VANGL planar cell polarity protein 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:1319787 D RGD:9068941 20201218 RGD mRNA:decreased expression:primary tumor:reduced in 4/14 cases PMID:12011999|REF_RGD_ID:2298799 12417435 VANGL2 VANGL planar cell polarity protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12417450 GEMIN7 gem nuclear organelle associated protein 7 gene DOID:630 genetic disease ISO RGD:1354242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417462 GPAT2 glycerol-3-phosphate acyltransferase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1601718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417576 PAM16 presequence translocase associated motor 16 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1603048 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12417576 PAM16 presequence translocase associated motor 16 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1603048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 12417576 PAM16 presequence translocase associated motor 16 gene DOID:0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type ISO RGD:1603048 D RGD:7240710 20180131 OMIM 12417576 PAM16 presequence translocase associated motor 16 gene DOID:0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type ISO RGD:1603048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type PMID:24786642|PMID:27354339|PMID:28492532 12417576 PAM16 presequence translocase associated motor 16 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1603048 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 12417576 PAM16 presequence translocase associated motor 16 gene DOID:1682 congenital heart disease ISO RGD:1603048 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 12417576 PAM16 presequence translocase associated motor 16 gene DOID:1826 epilepsy ISO RGD:1603048 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12417576 PAM16 presequence translocase associated motor 16 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603048 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12417576 PAM16 presequence translocase associated motor 16 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1603048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation PMID:12114483|PMID:17855048|PMID:25805166|PMID:27257017|PMID:28492532 12417576 PAM16 presequence translocase associated motor 16 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1603048 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12417585 AGBL5 AGBL carboxypeptidase 5 gene DOID:0110361 retinitis pigmentosa 75 ISO RGD:1605057 D RGD:7240710 20190315 OMIM 12417585 AGBL5 AGBL carboxypeptidase 5 gene DOID:0110361 retinitis pigmentosa 75 ISO RGD:1605057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 75 PMID:25741868|PMID:26355662|PMID:26720455|PMID:28492532 12417585 AGBL5 AGBL carboxypeptidase 5 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1605057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12417585 AGBL5 AGBL carboxypeptidase 5 gene DOID:10584 retinitis pigmentosa ISO RGD:1605057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:31725702 12417585 AGBL5 AGBL carboxypeptidase 5 gene DOID:630 genetic disease ISO RGD:1605057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12417585 AGBL5 AGBL carboxypeptidase 5 gene DOID:8501 fundus dystrophy ISO RGD:1605057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 12417619 OAZ2 ornithine decarboxylase antizyme 2 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1344023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12417619 OAZ2 ornithine decarboxylase antizyme 2 gene DOID:2717 Bloom syndrome ISO RGD:1344023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12417619 OAZ2 ornithine decarboxylase antizyme 2 gene DOID:9256 colorectal cancer ISO RGD:1344023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12417626 VAMP2 vesicle associated membrane protein 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:735448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12417626 VAMP2 vesicle associated membrane protein 2 gene DOID:12177 common variable immunodeficiency ISO RGD:735448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12417626 VAMP2 vesicle associated membrane protein 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:735448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12417626 VAMP2 vesicle associated membrane protein 2 gene DOID:2729 dyskeratosis congenita ISO RGD:735448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12417626 VAMP2 vesicle associated membrane protein 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:735448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12417626 VAMP2 vesicle associated membrane protein 2 gene DOID:630 genetic disease ISO RGD:735448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12417626 VAMP2 vesicle associated membrane protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735448 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12417626 VAMP2 vesicle associated membrane protein 2 gene DOID:9005460 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS ISO RGD:735448 D RGD:7240710 20200318 OMIM 12417626 VAMP2 vesicle associated membrane protein 2 gene DOID:9005460 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS ISO RGD:735448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements PMID:25741868|PMID:30929742 12417635 TMEM120A transmembrane protein 120A gene DOID:0080925 cytochrome P450 oxidoreductase deficiency ISO RGD:1605325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 12417635 TMEM120A transmembrane protein 120A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12417635 TMEM120A transmembrane protein 120A gene DOID:630 genetic disease ISO RGD:1605325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417635 TMEM120A transmembrane protein 120A gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1605325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12417654 HDAC6 histone deacetylase 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12417654 HDAC6 histone deacetylase 6 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1351463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12417654 HDAC6 histone deacetylase 6 gene DOID:0080322 polycystic kidney disease treatment ISO RGD:619981 D RGD:9068941 20200609 RGD PMID:24434010|REF_RGD_ID:9681551 12417654 HDAC6 histone deacetylase 6 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1351463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12417654 HDAC6 histone deacetylase 6 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1351463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12417654 HDAC6 histone deacetylase 6 gene DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia ISO RGD:1351463 D RGD:7240710 20180130 OMIM 12417654 HDAC6 histone deacetylase 6 gene DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia ISO RGD:1351463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type PMID:16001442|PMID:20181727|PMID:25741868|PMID:28492532 12417654 HDAC6 histone deacetylase 6 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1351463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12417654 HDAC6 histone deacetylase 6 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1351463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12417654 HDAC6 histone deacetylase 6 gene DOID:10763 hypertension ISO RGD:619981 D RGD:9068941 20200609 RGD protein:increased expression, activity:heart: PMID:23868068|REF_RGD_ID:9681716 12417654 HDAC6 histone deacetylase 6 gene DOID:12849 autistic disorder ISO RGD:1351463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12417654 HDAC6 histone deacetylase 6 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351463 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35764897 12417654 HDAC6 histone deacetylase 6 gene DOID:1909 melanoma ISO RGD:1351463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12417654 HDAC6 histone deacetylase 6 gene DOID:3347 osteosarcoma ISO RGD:1351463 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34524571 12417654 HDAC6 histone deacetylase 6 gene DOID:4947 cholangiocarcinoma ISO RGD:1351463 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:23370327|REF_RGD_ID:9681560 12417654 HDAC6 histone deacetylase 6 gene DOID:630 genetic disease ISO RGD:1351463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12417654 HDAC6 histone deacetylase 6 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1351463 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19147762|REF_RGD_ID:2306200 12417654 HDAC6 histone deacetylase 6 gene DOID:9000918 Disease Progression ISO RGD:1351463 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34524571 12417654 HDAC6 histone deacetylase 6 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1351463 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:24434010|REF_RGD_ID:9681551 12417654 HDAC6 histone deacetylase 6 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:619981 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cholangiocytee,liver: PMID:24434010|REF_RGD_ID:9681551 12417654 HDAC6 histone deacetylase 6 gene DOID:9001771 Polycystic Liver Disease 1 treatment ISO RGD:619981 D RGD:9068941 20200609 RGD PMID:24434010|REF_RGD_ID:9681551 12417654 HDAC6 histone deacetylase 6 gene DOID:9002170 Experimental Neoplasms ISO RGD:1351463 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34524571 12417654 HDAC6 histone deacetylase 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 12417654 HDAC6 histone deacetylase 6 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1552302 D RGD:9068941 20200609 RGD PMID:23541634|REF_RGD_ID:9681550 12417654 HDAC6 histone deacetylase 6 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1351463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19010849 12417654 HDAC6 histone deacetylase 6 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1351463 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19147762|REF_RGD_ID:2306200 12417654 HDAC6 histone deacetylase 6 gene DOID:9004484 Sepsis ISO RGD:619981 D RGD:9068941 20200609 RGD PMID:20538901|REF_RGD_ID:7364733 12417704 SMO smoothened, frizzled class receptor gene DOID:0050894 ameloblastoma ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859340 12417704 SMO smoothened, frizzled class receptor gene DOID:0050902 medulloblastoma ISO RGD:733306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:19726788|PMID:22679179|PMID:25759020 12417704 SMO smoothened, frizzled class receptor gene DOID:0050902 medulloblastoma treatment ISO RGD:735969 D RGD:9068941 20211112 RGD PMID:22084163|REF_RGD_ID:150521622 12417704 SMO smoothened, frizzled class receptor gene DOID:0060071 pre-malignant neoplasm ISO RGD:3726 D RGD:9068941 20211105 RGD PMID:30537251|REF_RGD_ID:150520178 12417704 SMO smoothened, frizzled class receptor gene DOID:0060318 acute promyelocytic leukemia ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23867347 12417704 SMO smoothened, frizzled class receptor gene DOID:10534 stomach cancer disease_progression ISO RGD:733306 D RGD:9068941 20210813 RGD mRNA:increased expression:liver PMID:16339184|REF_RGD_ID:150340550 12417704 SMO smoothened, frizzled class receptor gene DOID:10534 stomach cancer treatment ISO RGD:733306 D RGD:9068941 20210813 RGD PMID:28350784|REF_RGD_ID:150340549 12417704 SMO smoothened, frizzled class receptor gene DOID:10534 stomach cancer treatment ISO RGD:735969 D RGD:9068941 20210813 RGD PMID:28350784|REF_RGD_ID:150340549 12417704 SMO smoothened, frizzled class receptor gene DOID:10907 microcephaly ISO RGD:733306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12417704 SMO smoothened, frizzled class receptor gene DOID:11832 visual epilepsy ISO RGD:3726 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus PMID:16197497|REF_RGD_ID:2324992 12417704 SMO smoothened, frizzled class receptor gene DOID:1793 pancreatic cancer ISO RGD:733306 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19396459|REF_RGD_ID:2324910 12417704 SMO smoothened, frizzled class receptor gene DOID:1793 pancreatic cancer ISO RGD:735969 D RGD:9068941 20200609 RGD PMID:19460966|REF_RGD_ID:2324978 12417704 SMO smoothened, frizzled class receptor gene DOID:1793 pancreatic cancer treatment ISO RGD:733306 D RGD:9068941 20210813 RGD PMID:22859707|REF_RGD_ID:150340554 12417704 SMO smoothened, frizzled class receptor gene DOID:219 colon cancer ISO RGD:733306 D RGD:9068941 20210813 RGD protein:increased expression:colon PMID:23098507|REF_RGD_ID:150340555 12417704 SMO smoothened, frizzled class receptor gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:733306 D RGD:9068941 20200609 RGD PMID:15308259|REF_RGD_ID:12801443 12417704 SMO smoothened, frizzled class receptor gene DOID:2513 basal cell carcinoma ISO RGD:733306 D RGD:7240710 20230505 OMIM 12417704 SMO smoothened, frizzled class receptor gene DOID:2513 basal cell carcinoma ISO RGD:733306 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 PMID:19726788|PMID:22679179|PMID:25741868|PMID:25759020|PMID:28492532|PMID:9422511 12417704 SMO smoothened, frizzled class receptor gene DOID:2513 basal cell carcinoma disease_progression ISO RGD:733306 D RGD:9068941 20200609 RGD mRNA:increased expression:skin of body PMID:10504535|REF_RGD_ID:12801453 12417704 SMO smoothened, frizzled class receptor gene DOID:2602 chondroma treatment ISO RGD:735969 D RGD:9068941 20200609 RGD PMID:26091072|REF_RGD_ID:12910968 12417704 SMO smoothened, frizzled class receptor gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3726 D RGD:9068941 20200609 RGD PMID:23499832|PMID:23696546|REF_RGD_ID:12832759|REF_RGD_ID:12879404 12417704 SMO smoothened, frizzled class receptor gene DOID:3565 meningioma ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334667 12417704 SMO smoothened, frizzled class receptor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:733306 D RGD:9068941 20200609 RGD PMID:16826192|REF_RGD_ID:2324981 12417704 SMO smoothened, frizzled class receptor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12417704 SMO smoothened, frizzled class receptor gene DOID:4914 esophagus adenocarcinoma treatment ISO RGD:3726 D RGD:9068941 20210813 RGD PMID:23108119|REF_RGD_ID:150340553 12417704 SMO smoothened, frizzled class receptor gene DOID:4989 pancreatitis ISO RGD:3726 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:20062892|REF_RGD_ID:2324983 12417704 SMO smoothened, frizzled class receptor gene DOID:5082 liver cirrhosis treatment ISO RGD:3726 D RGD:9068941 20211119 RGD PMID:22994359|REF_RGD_ID:150521663 12417704 SMO smoothened, frizzled class receptor gene DOID:5593 gastric papillary adenocarcinoma ISO RGD:733306 D RGD:9068941 20210813 RGD protein:increased expression:stomach PMID:17259107|REF_RGD_ID:150340552 12417704 SMO smoothened, frizzled class receptor gene DOID:630 genetic disease ISO RGD:733306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417704 SMO smoothened, frizzled class receptor gene DOID:6595 gastric tubular adenocarcinoma ISO RGD:733306 D RGD:9068941 20210813 RGD protein:increased expression:stomach PMID:17259107|REF_RGD_ID:150340552 12417704 SMO smoothened, frizzled class receptor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:733306 D RGD:9068941 20210813 RGD DNA:SNP: :rs3824 (human) PMID:25944162|REF_RGD_ID:150340548 12417704 SMO smoothened, frizzled class receptor gene DOID:687 hepatoblastoma ISO RGD:733306 D RGD:9068941 20211112 RGD protein:increased expression:liver PMID:21159571|REF_RGD_ID:150521618 12417704 SMO smoothened, frizzled class receptor gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:733306 D RGD:9068941 20211112 RGD PMID:23379358|REF_RGD_ID:150521620 12417704 SMO smoothened, frizzled class receptor gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:733306 D RGD:9068941 20211112 RGD DNA:missense mutations PMID:33209614|REF_RGD_ID:150521621 12417704 SMO smoothened, frizzled class receptor gene DOID:9000066 Jaw Abnormalities ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16580747 12417704 SMO smoothened, frizzled class receptor gene DOID:9000081 Lymphatic Metastasis ISO RGD:733306 D RGD:9068941 20211105 RGD associated with colorectal cancer PMID:30784110|REF_RGD_ID:150520177 12417704 SMO smoothened, frizzled class receptor gene DOID:9000392 Fluoride Poisoning treatment ISO RGD:3726 D RGD:9068941 20200609 RGD PMID:24388991|REF_RGD_ID:12879411 12417704 SMO smoothened, frizzled class receptor gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:3726 D RGD:9068941 20211112 RGD PMID:28149272|REF_RGD_ID:150521623 12417704 SMO smoothened, frizzled class receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:733306 D RGD:9068941 20210813 RGD associated with colon cancer PMID:23098507|REF_RGD_ID:150340555 12417704 SMO smoothened, frizzled class receptor gene DOID:9001441 Adenomatous Polyps ISO RGD:735969 D RGD:9068941 20210813 RGD PMID:19427313|REF_RGD_ID:150340551 12417704 SMO smoothened, frizzled class receptor gene DOID:9002201 Maxillary Neoplasms ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859340 12417704 SMO smoothened, frizzled class receptor gene DOID:9002457 Experimental Arthritis treatment ISO RGD:3726 D RGD:9068941 20200609 RGD PMID:25821409|REF_RGD_ID:12879456 12417704 SMO smoothened, frizzled class receptor gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9581815 12417704 SMO smoothened, frizzled class receptor gene DOID:9004464 Skin Neoplasms ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9581815 12417704 SMO smoothened, frizzled class receptor gene DOID:9005729 Chronic Experimental Pancreatitis ISO RGD:3726 D RGD:9068941 20200609 RGD PMID:24782623|REF_RGD_ID:12879405 12417704 SMO smoothened, frizzled class receptor gene DOID:9006041 Osteoarthritis, Hip ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 12417704 SMO smoothened, frizzled class receptor gene DOID:9006151 Choroidal Neovascularization, Experimental treatment ISO RGD:3726 D RGD:9068941 20200609 RGD PMID:21063852|REF_RGD_ID:12859045 12417704 SMO smoothened, frizzled class receptor gene DOID:9007456 Female Infertility ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28560483 12417704 SMO smoothened, frizzled class receptor gene DOID:9007502 Brain Neoplasms ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9581815 12417704 SMO smoothened, frizzled class receptor gene DOID:9007660 Pallister-Hall-like Syndrome ISO RGD:733306 D RGD:7240710 20200812 OMIM 12417704 SMO smoothened, frizzled class receptor gene DOID:9007660 Pallister-Hall-like Syndrome ISO RGD:733306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hypothalamic hamartoma syndrome | ClinVar Annotator: match by term: Hamartoma of the hypothalamus | ClinVar Annotator: match by term: Hypothalamic hamartoma PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30497210|PMID:32413283 12417704 SMO smoothened, frizzled class receptor gene DOID:9007790 Winter Shortland Temple Syndrome ISO RGD:733306 D RGD:7240710 20190315 OMIM 12417704 SMO smoothened, frizzled class receptor gene DOID:9007790 Winter Shortland Temple Syndrome ISO RGD:733306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Curry-Jones syndrome PMID:16531740|PMID:18798318|PMID:24728327|PMID:25741868|PMID:27236920|PMID:3144990|PMID:7606318 12417704 SMO smoothened, frizzled class receptor gene DOID:9206 Barrett's esophagus treatment ISO RGD:3726 D RGD:9068941 20210813 RGD PMID:23108119|REF_RGD_ID:150340553 12417704 SMO smoothened, frizzled class receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12417704 SMO smoothened, frizzled class receptor gene DOID:9256 colorectal cancer ISO RGD:733306 D RGD:9068941 20211105 RGD PMID:22901214|REF_RGD_ID:150520174 12417704 SMO smoothened, frizzled class receptor gene DOID:9282 ocular hypertension ISO RGD:3726 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retinal ganglion cell PMID:20071678|REF_RGD_ID:2324982 12417704 SMO smoothened, frizzled class receptor gene DOID:9675 pulmonary emphysema ISO RGD:735969 D RGD:9068941 20220825 MouseDO OMIM:130700 12417720 KLHL33 kelch like family member 33 gene DOID:630 genetic disease ISO RGD:1642111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417726 LINGO4 leucine rich repeat and Ig domain containing 4 gene DOID:0080918 polymicrogyria ISO RGD:1606911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:29706646 12417726 LINGO4 leucine rich repeat and Ig domain containing 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12417726 LINGO4 leucine rich repeat and Ig domain containing 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12417726 LINGO4 leucine rich repeat and Ig domain containing 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606911 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12417726 LINGO4 leucine rich repeat and Ig domain containing 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1606911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12417726 LINGO4 leucine rich repeat and Ig domain containing 4 gene DOID:5812 MHC class II deficiency ISO RGD:1606911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12417726 LINGO4 leucine rich repeat and Ig domain containing 4 gene DOID:630 genetic disease ISO RGD:1606911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417726 LINGO4 leucine rich repeat and Ig domain containing 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12417734 CD248 CD248 molecule gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1353954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 12417734 CD248 CD248 molecule gene DOID:1059 intellectual disability ISO RGD:1353954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12417734 CD248 CD248 molecule gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12417734 CD248 CD248 molecule gene DOID:2746 glycogen storage disease V ISO RGD:1353954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12417734 CD248 CD248 molecule gene DOID:630 genetic disease ISO RGD:1353954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417734 CD248 CD248 molecule gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1353954 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12417734 CD248 CD248 molecule gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1353954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12417739 EIF4E3 eukaryotic translation initiation factor 4E family member 3 gene DOID:0080600 COVID-19 ISO RGD:1348241 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12417739 EIF4E3 eukaryotic translation initiation factor 4E family member 3 gene DOID:630 genetic disease ISO RGD:1348241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417739 EIF4E3 eukaryotic translation initiation factor 4E family member 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12417759 LPAR2 lysophosphatidic acid receptor 2 gene DOID:630 genetic disease ISO RGD:1312931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417766 MRGPRX MAS related GPR family member X gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1603280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 12417766 MRGPRX MAS related GPR family member X gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1603280 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 12417766 MRGPRX MAS related GPR family member X gene DOID:1059 intellectual disability ISO RGD:1603280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12417766 MRGPRX MAS related GPR family member X gene DOID:630 genetic disease ISO RGD:1603280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417771 CRYBB1 crystallin beta B1 gene DOID:0110270 cataract 17 multiple types ISO RGD:731502 D RGD:7240710 20180130 OMIM 12417771 CRYBB1 crystallin beta B1 gene DOID:0110270 cataract 17 multiple types ISO RGD:731502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 17 multiple types PMID:12360425|PMID:16110300|PMID:17460281|PMID:17576681|PMID:20565250|PMID:21972112|PMID:25741868|PMID:28492532|PMID:32854469|PMID:33223529|PMID:9536098 12417771 CRYBB1 crystallin beta B1 gene DOID:0110271 cataract 23 ISO RGD:731502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 12417771 CRYBB1 crystallin beta B1 gene DOID:5419 schizophrenia ISO RGD:731502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12417771 CRYBB1 crystallin beta B1 gene DOID:630 genetic disease ISO RGD:731502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12417771 CRYBB1 crystallin beta B1 gene DOID:83 cataract ISO RGD:731502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:26694549|PMID:28272538 12417780 XPNPEP1 X-prolyl aminopeptidase 1 gene DOID:630 genetic disease ISO RGD:733430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417812 CYTIP cytohesin 1 interacting protein gene DOID:0060041 autism spectrum disorder ISO RGD:1317500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12417812 CYTIP cytohesin 1 interacting protein gene DOID:630 genetic disease ISO RGD:1317500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417827 OR8B12 olfactory receptor family 8 subfamily B member 12 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1350337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12417827 OR8B12 olfactory receptor family 8 subfamily B member 12 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1350337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12417827 OR8B12 olfactory receptor family 8 subfamily B member 12 gene DOID:5419 schizophrenia ISO RGD:1350337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12417827 OR8B12 olfactory receptor family 8 subfamily B member 12 gene DOID:630 genetic disease ISO RGD:1350337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417827 OR8B12 olfactory receptor family 8 subfamily B member 12 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12417827 OR8B12 olfactory receptor family 8 subfamily B member 12 gene DOID:9007661 Dwarfism ISO RGD:1350337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12417831 KIAA1210 KIAA1210 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:2301934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12417831 KIAA1210 KIAA1210 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:2301934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 12417831 KIAA1210 KIAA1210 gene DOID:12849 autistic disorder ISO RGD:2301934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12417831 KIAA1210 KIAA1210 gene DOID:630 genetic disease ISO RGD:2301934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12417859 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12417859 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:732948 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12417859 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:732948 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12417859 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:0111996 immunodeficiency 51 ISO RGD:732948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12417859 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:1059 intellectual disability ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12417859 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:11198 DiGeorge syndrome ISO RGD:732948 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12417859 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:11372 megacolon ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12417859 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:732948 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12417859 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:12849 autistic disorder ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12417859 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:1682 congenital heart disease ISO RGD:732948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10024240 12417859 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:1826 epilepsy ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12417859 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:5419 schizophrenia ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12417859 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:612 primary immunodeficiency disease ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12417859 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12417859 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:9007661 Dwarfism ISO RGD:732948 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12417859 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:732948 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12417859 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10024240 12417875 C5H16orf74 chromosome 5 C16orf74 homolog gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1606366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12417875 C5H16orf74 chromosome 5 C16orf74 homolog gene DOID:630 genetic disease ISO RGD:1606366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417886 DNAJB8 DnaJ heat shock protein family (Hsp40) member B8 gene DOID:0111947 immunodeficiency 21 ISO RGD:1343992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:21670465|PMID:22147895|PMID:23223431|PMID:28492532 12417886 DNAJB8 DnaJ heat shock protein family (Hsp40) member B8 gene DOID:630 genetic disease ISO RGD:1343992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417886 DNAJB8 DnaJ heat shock protein family (Hsp40) member B8 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1343992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:21670465|PMID:22147895|PMID:2322343|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532|PMID:29146883|PMID:29724903|PMID:31710708 12417886 DNAJB8 DnaJ heat shock protein family (Hsp40) member B8 gene DOID:9270 alkaptonuria ISO RGD:1343992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12417891 SCN3B sodium voltage-gated channel beta subunit 3 gene DOID:0050451 Brugada syndrome ISO RGD:1350710 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:20031595|PMID:21051419|PMID:22284586|PMID:23257389|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24144883|PMID:25650408|PMID:25741868|PMID:25757662|PMID:28492532|PMID:29247119|PMID:30821013|PMID:31019283|PMID:31043699 12417891 SCN3B sodium voltage-gated channel beta subunit 3 gene DOID:0050700 cardiomyopathy ISO RGD:1350710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23257389|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27435932|PMID:27711072|PMID:28492532|PMID:30662450 12417891 SCN3B sodium voltage-gated channel beta subunit 3 gene DOID:0110224 Brugada syndrome 7 ISO RGD:1350710 D RGD:7240710 20180130 OMIM 12417891 SCN3B sodium voltage-gated channel beta subunit 3 gene DOID:0110224 Brugada syndrome 7 ISO RGD:1350710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 16 | ClinVar Annotator: match by term: Brugada syndrome 7 PMID:16199547|PMID:17576681|PMID:20031595|PMID:20042427|PMID:20226894|PMID:20558140|PMID:21051419|PMID:22284586|PMID:23257389|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24144883|PMID:24529773|PMID:25650408|PMID:25741868|PMID:25757662|PMID:26179811|PMID:27435932|PMID:27711072|PMID:28166811|PMID:28492532|PMID:29247119|PMID:30662450|PMID:30821013|PMID:30847666|PMID:31019283|PMID:31043699|PMID:9536098 12417891 SCN3B sodium voltage-gated channel beta subunit 3 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1350710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12417891 SCN3B sodium voltage-gated channel beta subunit 3 gene DOID:5419 schizophrenia ISO RGD:1350710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12417891 SCN3B sodium voltage-gated channel beta subunit 3 gene DOID:630 genetic disease ISO RGD:1350710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12417891 SCN3B sodium voltage-gated channel beta subunit 3 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1350710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:27435932|PMID:28492532 12417891 SCN3B sodium voltage-gated channel beta subunit 3 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1350710 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:20031595|PMID:21051419|PMID:22284586|PMID:23257389|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24144883|PMID:25650408|PMID:25741868|PMID:25757662|PMID:28492532|PMID:29247119|PMID:30821013|PMID:31019283|PMID:31043699 12417891 SCN3B sodium voltage-gated channel beta subunit 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12417891 SCN3B sodium voltage-gated channel beta subunit 3 gene DOID:9006030 Infant Death ISO RGD:1350710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Death in infancy PMID:23257389|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27435932|PMID:27711072|PMID:28492532|PMID:30662450 12417891 SCN3B sodium voltage-gated channel beta subunit 3 gene DOID:9007661 Dwarfism ISO RGD:1350710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12417891 SCN3B sodium voltage-gated channel beta subunit 3 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1350710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death 12417915 FIRRM FIGNL1 interacting regulator of recombination and mitosis gene DOID:1540 parathyroid carcinoma ISO RGD:1603990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12417915 FIRRM FIGNL1 interacting regulator of recombination and mitosis gene DOID:630 genetic disease ISO RGD:1603990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417915 FIRRM FIGNL1 interacting regulator of recombination and mitosis gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1603990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12417915 FIRRM FIGNL1 interacting regulator of recombination and mitosis gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12417949 NR2C1 nuclear receptor subfamily 2 group C member 1 gene DOID:289 endometriosis ISO RGD:1344559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 12417949 NR2C1 nuclear receptor subfamily 2 group C member 1 gene DOID:630 genetic disease ISO RGD:1344559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417949 NR2C1 nuclear receptor subfamily 2 group C member 1 gene DOID:9006836 Contracture ISO RGD:1344559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 12417981 CDV3 CDV3 homolog gene DOID:630 genetic disease ISO RGD:1602107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12417981 CDV3 CDV3 homolog gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1602107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 12417981 CDV3 CDV3 homolog gene DOID:9270 alkaptonuria ISO RGD:1602107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12418018 ADIG adipogenin gene DOID:2234 focal epilepsy ISO RGD:1606699 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12418018 ADIG adipogenin gene DOID:630 genetic disease ISO RGD:1606699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12418061 RWDD4 RWD domain containing 4 gene DOID:630 genetic disease ISO RGD:1605847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12418077 KLHDC3 kelch domain containing 3 gene DOID:0050444 infantile Refsum disease ISO RGD:1316101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12418077 KLHDC3 kelch domain containing 3 gene DOID:630 genetic disease ISO RGD:1316101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12418077 KLHDC3 kelch domain containing 3 gene DOID:905 Zellweger syndrome ISO RGD:1316101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12418092 ASPSCR1 ASPSCR1 tether for SLC2A4, UBX domain containing gene DOID:4239 alveolar soft part sarcoma ISO RGD:1344232 D RGD:7240710 20180130 OMIM 12418092 ASPSCR1 ASPSCR1 tether for SLC2A4, UBX domain containing gene DOID:630 genetic disease ISO RGD:1344232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12418153 ALG8 ALG8 alpha-1,3-glucosyltransferase gene DOID:0080560 congenital disorder of glycosylation Ih ISO RGD:1313512 D RGD:7240710 20180130 OMIM 12418153 ALG8 ALG8 alpha-1,3-glucosyltransferase gene DOID:0080560 congenital disorder of glycosylation Ih ISO RGD:1313512 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1H PMID:12480927|PMID:15235028|PMID:16199547|PMID:17576681|PMID:19688606|PMID:19862844|PMID:23806237|PMID:25428507|PMID:25741868|PMID:26066342|PMID:26653770|PMID:28106320|PMID:28375157|PMID:28492532|PMID:28940310|PMID:9536098 12418153 ALG8 ALG8 alpha-1,3-glucosyltransferase gene DOID:1059 intellectual disability ISO RGD:1313512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12418153 ALG8 ALG8 alpha-1,3-glucosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1313512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 12418153 ALG8 ALG8 alpha-1,3-glucosyltransferase gene DOID:630 genetic disease ISO RGD:1313512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19688606|PMID:19862844|PMID:25741868|PMID:26066342|PMID:28106320|PMID:28375157|PMID:28492532|PMID:9536098 12418153 ALG8 ALG8 alpha-1,3-glucosyltransferase gene DOID:9009126 Polycystic Liver Disease 3 with or without Kidney Cysts ISO RGD:1313512 D RGD:7240710 20190315 OMIM 12418153 ALG8 ALG8 alpha-1,3-glucosyltransferase gene DOID:9009126 Polycystic Liver Disease 3 with or without Kidney Cysts ISO RGD:1313512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS | ClinVar Annotator: match by term: Polycystic liver disease 3 with or without kidney cysts PMID:15235028|PMID:16199547|PMID:17576681|PMID:19688606|PMID:19862844|PMID:25741868|PMID:26066342|PMID:28106320|PMID:28375157|PMID:28492532|PMID:9536098 12418171 ULK1 unc-51 like autophagy activating kinase 1 gene DOID:0080178 mucositis treatment ISO RGD:1589743 D RGD:9068941 20200609 RGD PMID:25732242|REF_RGD_ID:13208871 12418171 ULK1 unc-51 like autophagy activating kinase 1 gene DOID:630 genetic disease ISO RGD:1344835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12418171 ULK1 unc-51 like autophagy activating kinase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1589743 D RGD:9068941 20200609 RGD protein:increased expression:neuron, axon PMID:25040536|REF_RGD_ID:11553820 12418171 ULK1 unc-51 like autophagy activating kinase 1 gene DOID:9004332 Osteoarthritis, Experimental treatment ISO RGD:1589743 D RGD:9068941 20200609 RGD PMID:23589102|REF_RGD_ID:11561955 12418206 NIT2 nitrilase family member 2 gene DOID:630 genetic disease ISO RGD:1346727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12418222 CHTOP chromatin target of PRMT1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1607051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12418222 CHTOP chromatin target of PRMT1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1607051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12418222 CHTOP chromatin target of PRMT1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1607051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12418222 CHTOP chromatin target of PRMT1 gene DOID:1540 parathyroid carcinoma ISO RGD:1607051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12418222 CHTOP chromatin target of PRMT1 gene DOID:5812 MHC class II deficiency ISO RGD:1607051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12418222 CHTOP chromatin target of PRMT1 gene DOID:630 genetic disease ISO RGD:1607051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12418222 CHTOP chromatin target of PRMT1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12418241 SSR4 signal sequence receptor subunit 4 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:736749 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12418241 SSR4 signal sequence receptor subunit 4 gene DOID:0050476 Barth syndrome ISO RGD:736749 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12418241 SSR4 signal sequence receptor subunit 4 gene DOID:0050800 creatine transporter deficiency ISO RGD:736749 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 12418241 SSR4 signal sequence receptor subunit 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12418241 SSR4 signal sequence receptor subunit 4 gene DOID:0080574 congenital disorder of glycosylation Iy ISO RGD:736749 D RGD:7240710 20180130 OMIM 12418241 SSR4 signal sequence receptor subunit 4 gene DOID:0080574 congenital disorder of glycosylation Iy ISO RGD:736749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CDG IY | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y PMID:24218363|PMID:25326635|PMID:25741868|PMID:26264460|PMID:28492532 12418241 SSR4 signal sequence receptor subunit 4 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:736749 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 12418241 SSR4 signal sequence receptor subunit 4 gene DOID:0112003 immunodeficiency 33 ISO RGD:736749 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 12418241 SSR4 signal sequence receptor subunit 4 gene DOID:10588 adrenoleukodystrophy ISO RGD:736749 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12418241 SSR4 signal sequence receptor subunit 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:736749 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12418241 SSR4 signal sequence receptor subunit 4 gene DOID:12849 autistic disorder ISO RGD:736749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12418241 SSR4 signal sequence receptor subunit 4 gene DOID:13628 favism ISO RGD:736749 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 12418241 SSR4 signal sequence receptor subunit 4 gene DOID:2729 dyskeratosis congenita ISO RGD:736749 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 12418241 SSR4 signal sequence receptor subunit 4 gene DOID:607 paraplegia ISO RGD:736749 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 12418241 SSR4 signal sequence receptor subunit 4 gene DOID:630 genetic disease ISO RGD:736749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12418241 SSR4 signal sequence receptor subunit 4 gene DOID:9002720 Splenomegaly ISO RGD:736749 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 12418258 ZCCHC7 zinc finger CCHC-type containing 7 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1321384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12418258 ZCCHC7 zinc finger CCHC-type containing 7 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1321384 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12418258 ZCCHC7 zinc finger CCHC-type containing 7 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1321384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12418258 ZCCHC7 zinc finger CCHC-type containing 7 gene DOID:630 genetic disease ISO RGD:1321384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12418258 ZCCHC7 zinc finger CCHC-type containing 7 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12418258 ZCCHC7 zinc finger CCHC-type containing 7 gene DOID:9870 galactosemia ISO RGD:1321384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12418273 AOAH acyloxyacyl hydrolase gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1352932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:28492532 12418273 AOAH acyloxyacyl hydrolase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12418273 AOAH acyloxyacyl hydrolase gene DOID:630 genetic disease ISO RGD:1352932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12418273 AOAH acyloxyacyl hydrolase gene DOID:670 amphetamine abuse ISO RGD:1352932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12418302 ADCY3 adenylate cyclase 3 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:732499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 12418302 ADCY3 adenylate cyclase 3 gene DOID:11713 diabetic angiopathy ISO RGD:732499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 12418302 ADCY3 adenylate cyclase 3 gene DOID:11981 morbid obesity ISO RGD:732499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29311637 12418302 ADCY3 adenylate cyclase 3 gene DOID:1470 major depressive disorder ISO RGD:732500 D RGD:9068941 20220825 MouseDO OMIM:608520 | OMIM:608691 12418302 ADCY3 adenylate cyclase 3 gene DOID:630 genetic disease ISO RGD:732499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12418302 ADCY3 adenylate cyclase 3 gene DOID:9970 obesity ISO RGD:732499 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 PMID:25741868|PMID:29311636|PMID:29311637 12418326 PPM1J protein phosphatase, Mg2+/Mn2+ dependent 1J gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1603861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 12418326 PPM1J protein phosphatase, Mg2+/Mn2+ dependent 1J gene DOID:13938 amenorrhea ISO RGD:1603861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12418326 PPM1J protein phosphatase, Mg2+/Mn2+ dependent 1J gene DOID:630 genetic disease ISO RGD:1603861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12418341 OR5L1 olfactory receptor family 5 subfamily L member 1 gene DOID:1059 intellectual disability ISO RGD:1342923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12418341 OR5L1 olfactory receptor family 5 subfamily L member 1 gene DOID:630 genetic disease ISO RGD:1342923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12418345 CEP250 centrosomal protein 250 gene DOID:0050439 Usher syndrome ISO RGD:1347521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:24780881|PMID:25741868 12418345 CEP250 centrosomal protein 250 gene DOID:10584 retinitis pigmentosa ISO RGD:1618420 D RGD:9068941 20220825 MouseDO 12418345 CEP250 centrosomal protein 250 gene DOID:630 genetic disease ISO RGD:1347521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12418345 CEP250 centrosomal protein 250 gene DOID:8501 fundus dystrophy ISO RGD:1347521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28005958|PMID:28492532 12418345 CEP250 centrosomal protein 250 gene DOID:9008509 Cone-Rod Dystrophy and Hearing Loss 2 ISO RGD:1347521 D RGD:7240710 20190424 OMIM 12418345 CEP250 centrosomal protein 250 gene DOID:9008509 Cone-Rod Dystrophy and Hearing Loss 2 ISO RGD:1347521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 2 PMID:24780881|PMID:25741868|PMID:28492532|PMID:29718797|PMID:30459346|PMID:30998843 12418391 C1QB complement C1q B chain gene DOID:0060369 Parkinson's disease 6 ISO RGD:1346671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 12418391 C1QB complement C1q B chain gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1346671 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 12418391 C1QB complement C1q B chain gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1346671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 12418391 C1QB complement C1q B chain gene DOID:0080600 COVID-19 ISO RGD:1346671 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12418391 C1QB complement C1q B chain gene DOID:10652 Alzheimer's disease ISO RGD:1346671 D RGD:9068941 20200609 RGD mRNA:increased expression:microglial cell PMID:1362796|REF_RGD_ID:1599518 12418391 C1QB complement C1q B chain gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1346671 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 12418391 C1QB complement C1q B chain gene DOID:2986 IgA glomerulonephritis ISO RGD:1346671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 12418391 C1QB complement C1q B chain gene DOID:5082 liver cirrhosis ISO RGD:1346671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 12418391 C1QB complement C1q B chain gene DOID:5119 ovarian cyst ISO RGD:1346671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12418391 C1QB complement C1q B chain gene DOID:612 primary immunodeficiency disease ISO RGD:1346671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2894352 12418391 C1QB complement C1q B chain gene DOID:630 genetic disease ISO RGD:1346671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12418391 C1QB complement C1q B chain gene DOID:9000039 Spinal Cord Injuries ISO RGD:2229 D RGD:9068941 20200609 RGD mRNA:increased expression PMID:16345062|REF_RGD_ID:1599510 12418391 C1QB complement C1q B chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12418391 C1QB complement C1q B chain gene DOID:9005908 Retrograde Degeneration ISO RGD:2229 D RGD:9068941 20200609 RGD mRNA:increased expression PMID:16934480|REF_RGD_ID:1599508 12418391 C1QB complement C1q B chain gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1346671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12418391 C1QB complement C1q B chain gene DOID:9006341 C1q Deficiency 2 ISO RGD:1346671 D RGD:7240710 20230505 OMIM 12418391 C1QB complement C1q B chain gene DOID:9006341 C1q Deficiency 2 ISO RGD:1346671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: C1q deficiency 2 PMID:24160257|PMID:2894352 12418391 C1QB complement C1q B chain gene DOID:9007102 Myocardial Ischemia ISO RGD:1346671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12418391 C1QB complement C1q B chain gene DOID:9007516 C1q Deficiency ISO RGD:1346671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: C1Q deficiency PMID:17513176|PMID:21654842|PMID:25741868|PMID:28492532 12418391 C1QB complement C1q B chain gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1346671 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 12418391 C1QB complement C1q B chain gene DOID:9282 ocular hypertension ISO RGD:1346671 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:16677633|REF_RGD_ID:1599509 12418391 C1QB complement C1q B chain gene DOID:9282 ocular hypertension ISO RGD:2229 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:16677633|REF_RGD_ID:1599509 12418398 CDS1 CDP-diacylglycerol synthase 1 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:734044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 12418398 CDS1 CDP-diacylglycerol synthase 1 gene DOID:305 carcinoma ISO RGD:734044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12418398 CDS1 CDP-diacylglycerol synthase 1 gene DOID:630 genetic disease ISO RGD:734044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12418398 CDS1 CDP-diacylglycerol synthase 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:734044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12418398 CDS1 CDP-diacylglycerol synthase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12418398 CDS1 CDP-diacylglycerol synthase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12418415 RBBP5 RB binding protein 5, histone lysine methyltransferase complex subunit gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1313612 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12418415 RBBP5 RB binding protein 5, histone lysine methyltransferase complex subunit gene DOID:12849 autistic disorder ISO RGD:1313612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12418415 RBBP5 RB binding protein 5, histone lysine methyltransferase complex subunit gene DOID:1540 parathyroid carcinoma ISO RGD:1313612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12418415 RBBP5 RB binding protein 5, histone lysine methyltransferase complex subunit gene DOID:630 genetic disease ISO RGD:1313612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12418415 RBBP5 RB binding protein 5, histone lysine methyltransferase complex subunit gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1313612 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12418415 RBBP5 RB binding protein 5, histone lysine methyltransferase complex subunit gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12418438 DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:0060041 autism spectrum disorder ISO RGD:1348350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12418438 DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:10923 sickle cell anemia ISO RGD:1348350 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12418438 DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:12849 autistic disorder ISO RGD:1348350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12418438 DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1348350 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 12418438 DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12418438 DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:5419 schizophrenia ISO RGD:1348350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12418438 DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:630 genetic disease ISO RGD:1348350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12418438 DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:8445 intestinal volvulus ISO RGD:1348350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12418438 DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:9001885 Nuclear Type Mitochondrial Complex I Deficiency 38 ISO RGD:1348350 D RGD:7240710 20210707 OMIM 12418438 DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:9001885 Nuclear Type Mitochondrial Complex I Deficiency 38 ISO RGD:1348350 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive PMID:25741868|PMID:33465056|PMID:35148383 12418438 DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12418438 DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1348350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12418443 LMOD1 leiomodin 1 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1316308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral myopathy PMID:28292896 12418443 LMOD1 leiomodin 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1316308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12418443 LMOD1 leiomodin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1316308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12418443 LMOD1 leiomodin 1 gene DOID:289 endometriosis ISO RGD:1316308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12418443 LMOD1 leiomodin 1 gene DOID:3393 coronary artery disease ISO RGD:1316308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28530674 12418443 LMOD1 leiomodin 1 gene DOID:630 genetic disease ISO RGD:1316308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12418443 LMOD1 leiomodin 1 gene DOID:9003331 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 ISO RGD:1316308 D RGD:7240710 20210616 OMIM 12418443 LMOD1 leiomodin 1 gene DOID:9003331 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 ISO RGD:1316308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 PMID:28292896 12418443 LMOD1 leiomodin 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1316308 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12418443 LMOD1 leiomodin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12418449 PSEN2 presenilin 2 gene DOID:0080600 COVID-19 ISO RGD:733569 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12418449 PSEN2 presenilin 2 gene DOID:0110040 Alzheimer's disease 4 ISO RGD:733569 D RGD:7240710 20180130 OMIM 12418449 PSEN2 presenilin 2 gene DOID:0110040 Alzheimer's disease 4 ISO RGD:733569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Alzheimer disease 4 PMID:10631141|PMID:10732806|PMID:10846187|PMID:11193137|PMID:11723295|PMID:12549925|PMID:12925374|PMID:14623725|PMID:14681895|PMID:14769392|PMID:15055444|PMID:15130954|PMID:15258222|PMID:15389756|PMID:15663477|PMID:15776278|PMID:16155344|PMID:16199547|PMID:16474849|PMID:16533963|PMID:16959576|PMID:17186461|PMID:17345043|PMID:17576681|PMID:17914065|PMID:18350357|PMID:18427071|PMID:18667258|PMID:18727676|PMID:18833506|PMID:18834536|PMID:19073399|PMID:19659892|PMID:19768372|PMID:20194882|PMID:20301414|PMID:20333730|PMID:20375137|PMID:20420489|PMID:20457965|PMID:20458010|PMID:20634584|PMID:21234330|PMID:21409510|PMID:21483645|PMID:21544564|PMID:21559247|PMID:21911706|PMID:21959359|PMID:22115042|PMID:22118943|PMID:22221884|PMID:22249458|PMID:22312439|PMID:22412221|PMID:22475797|PMID:22503161|PMID:22505025|PMID:22753229|PMID:22805202|PMID:22834455|PMID:23365231|PMID:23383383|PMID:23558482|PMID:23861362|PMID:23990795|PMID:24093083|PMID:24559647|PMID:24594196|PMID:24669286|PMID:24704512|PMID:24754482|PMID:24844686|PMID:24880964|PMID:24928124|PMID:25104557|PMID:25323700|PMID:25604855|PMID:25741868|PMID:25937274|PMID:26159191|PMID:26166204|PMID:26220970|PMID:26242991|PMID:26410308|PMID:26467025|PMID:26507310|PMID:26522186|PMID:26836416|PMID:26899768|PMID:27293189|PMID:27883225|PMID:28008242|PMID:28166811|PMID:28191889|PMID:28243073|PMID:28350801|PMID:28492532|PMID:29692703|PMID:30021643|PMID:30045758|PMID:30279455|PMID:30412492|PMID:30598257|PMID:30636737|PMID:30822634|PMID:30822648|PMID:30954774|PMID:31020001|PMID:31914229|PMID:32032730|PMID:32087291|PMID:32317127|PMID:32345996|PMID:32917274|PMID:35328387|PMID:7550356|PMID:7638622|PMID:7651536|PMID:8661049|PMID:8939861|PMID:8986743|PMID:9050898|PMID:9384602|PMID:9450781|PMID:9536098|PMID:9813158 12418449 PSEN2 presenilin 2 gene DOID:0110427 dilated cardiomyopathy 1V ISO RGD:733569 D RGD:7240710 20180130 OMIM 12418449 PSEN2 presenilin 2 gene DOID:0110427 dilated cardiomyopathy 1V ISO RGD:733569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1V PMID:14623725|PMID:14769392|PMID:15130954|PMID:15663477|PMID:16474849|PMID:17186461|PMID:17345043|PMID:17914065|PMID:18350357|PMID:18667258|PMID:18727676|PMID:19659892|PMID:19768372|PMID:20194882|PMID:20375137|PMID:20420489|PMID:20458010|PMID:21409510|PMID:21483645|PMID:21544564|PMID:21959359|PMID:22118943|PMID:22221884|PMID:22312439|PMID:22412221|PMID:22475797|PMID:22503161|PMID:22753229|PMID:22834455|PMID:23383383|PMID:23558482|PMID:23861362|PMID:23990795|PMID:24559647|PMID:24669286|PMID:24754482|PMID:24844686|PMID:24880964|PMID:25104557|PMID:25604855|PMID:25741868|PMID:25937274|PMID:26159191|PMID:26242991|PMID:26410308|PMID:26467025|PMID:26507310|PMID:26899768|PMID:28008242|PMID:28191889|PMID:28492532|PMID:30045758|PMID:30279455|PMID:30598257|PMID:30636737|PMID:31914229|PMID:32032730|PMID:32087291|PMID:32345996|PMID:32917274|PMID:9384602 12418449 PSEN2 presenilin 2 gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:733569 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Thrombophilia due to thrombin defect PMID:25741868 12418449 PSEN2 presenilin 2 gene DOID:10652 Alzheimer's disease ISO RGD:733569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease PMID:11723295|PMID:14623725|PMID:15130954|PMID:15663477|PMID:16474849|PMID:17186461|PMID:17345043|PMID:17914065|PMID:18667258|PMID:19768372|PMID:20194882|PMID:21409510|PMID:22221884|PMID:22312439|PMID:22475797|PMID:22503161|PMID:23383383|PMID:23558482|PMID:23861362|PMID:23990795|PMID:24880964|PMID:25104557|PMID:25604855|PMID:25741868|PMID:25937274|PMID:26159191|PMID:26242991|PMID:26410308|PMID:26467025|PMID:26507310|PMID:26836416|PMID:26899768|PMID:28492532|PMID:30045758|PMID:30279455|PMID:31914229|PMID:32032730|PMID:32087291|PMID:32345996|PMID:32917274|PMID:9384602 12418449 PSEN2 presenilin 2 gene DOID:10652 Alzheimer's disease severity ISO RGD:733569 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.N141I (human) PMID:10976645|REF_RGD_ID:9743900 12418449 PSEN2 presenilin 2 gene DOID:11088 asphyxia neonatorum ISO RGD:733569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963755 12418449 PSEN2 presenilin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:733569 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:20458010|PMID:21483645|PMID:22412221|PMID:24754482|PMID:28492532 12418449 PSEN2 presenilin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:733569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12418449 PSEN2 presenilin 2 gene DOID:1612 breast cancer susceptibility ISO RGD:733569 D RGD:9068941 20200609 RGD protein:amino acid substitution:R62H, R71W PMID:16474849|REF_RGD_ID:2302525 12418449 PSEN2 presenilin 2 gene DOID:3770 pulmonary fibrosis ISO RGD:733570 D RGD:9068941 20200609 RGD PMID:10518543|REF_RGD_ID:1302521 12418449 PSEN2 presenilin 2 gene DOID:630 genetic disease ISO RGD:733569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12418449 PSEN2 presenilin 2 gene DOID:8725 vascular dementia ISO RGD:733569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:33268848 12418449 PSEN2 presenilin 2 gene DOID:9003202 Pulmonary Hemorrhage ISO RGD:733570 D RGD:9068941 20200609 RGD PMID:10518543|REF_RGD_ID:1302521 12418449 PSEN2 presenilin 2 gene DOID:9007282 Huntington's Disease-Like Syndrome ISO RGD:733569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Huntington disease-like syndrome PMID:28492532|PMID:30279455|PMID:30822634 12418449 PSEN2 presenilin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12418463 ACACA acetyl-CoA carboxylase alpha gene DOID:0060041 autism spectrum disorder ISO RGD:736015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 12418463 ACACA acetyl-CoA carboxylase alpha gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:736015 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 12418463 ACACA acetyl-CoA carboxylase alpha gene DOID:12849 autistic disorder ISO RGD:736015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12418463 ACACA acetyl-CoA carboxylase alpha gene DOID:5419 schizophrenia ISO RGD:736015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12418463 ACACA acetyl-CoA carboxylase alpha gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 PMID:25741868 12418463 ACACA acetyl-CoA carboxylase alpha gene DOID:6000 congestive heart failure ISO RGD:736015 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 12418463 ACACA acetyl-CoA carboxylase alpha gene DOID:630 genetic disease ISO RGD:736015 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12418463 ACACA acetyl-CoA carboxylase alpha gene DOID:684 hepatocellular carcinoma ISO RGD:736015 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 12418463 ACACA acetyl-CoA carboxylase alpha gene DOID:9000701 Acetyl-Coa Carboxylase Deficiency ISO RGD:736015 D RGD:7240710 20180130 OMIM 12418463 ACACA acetyl-CoA carboxylase alpha gene DOID:9000701 Acetyl-Coa Carboxylase Deficiency ISO RGD:736015 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ACACA DEFICIENCY | ClinVar Annotator: match by term: Acetyl-CoA carboxylase deficiency PMID:25741868|PMID:28492532 12418463 ACACA acetyl-CoA carboxylase alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12418463 ACACA acetyl-CoA carboxylase alpha gene DOID:9006646 Metabolic Syndrome ISO RGD:1552388 D RGD:9068941 20230427 RGD mRNA:increased expression:liver (mouse) PMID:29684438|REF_RGD_ID:329333017 12418463 ACACA acetyl-CoA carboxylase alpha gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:736015 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 12418463 ACACA acetyl-CoA carboxylase alpha gene DOID:9007692 Insulin Resistance ISO RGD:621248 D RGD:9068941 20200609 RGD PMID:16485039|REF_RGD_ID:1625727 12418463 ACACA acetyl-CoA carboxylase alpha gene DOID:9452 fatty liver disease ISO RGD:621248 D RGD:9068941 20200609 RGD PMID:16485039|REF_RGD_ID:1625727 12418543 NDOR1 NADPH dependent diflavin oxidoreductase 1 gene DOID:0050777 Joubert syndrome ISO RGD:1318271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12418543 NDOR1 NADPH dependent diflavin oxidoreductase 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1318271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12418543 NDOR1 NADPH dependent diflavin oxidoreductase 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1318271 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12418543 NDOR1 NADPH dependent diflavin oxidoreductase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1318271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12418543 NDOR1 NADPH dependent diflavin oxidoreductase 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1318271 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12418543 NDOR1 NADPH dependent diflavin oxidoreductase 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1318271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12418543 NDOR1 NADPH dependent diflavin oxidoreductase 1 gene DOID:1826 epilepsy ISO RGD:1318271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12418543 NDOR1 NADPH dependent diflavin oxidoreductase 1 gene DOID:630 genetic disease ISO RGD:1318271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12418543 NDOR1 NADPH dependent diflavin oxidoreductase 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1318271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12418566 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:0050777 Joubert syndrome ISO RGD:1321992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12418566 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1321992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:27891178|PMID:28492532|PMID:31209758 12418566 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1321992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12418566 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1321992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12418566 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12418566 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1321992 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12418566 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1321992 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12418566 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1321992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12418566 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1321992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12418566 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:3652 Leigh disease ISO RGD:1321992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12418566 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:630 genetic disease ISO RGD:1321992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12418566 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1321992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12418566 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:9004966 Complex Cortical Dysplasia with Other Brain Malformations 12 ISO RGD:1321992 D RGD:7240710 20230505 OMIM 12418566 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:9004966 Complex Cortical Dysplasia with Other Brain Malformations 12 ISO RGD:1321992 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 12 PMID:25741868|PMID:36283405 12418566 CAMSAP1 calmodulin regulated spectrin associated protein 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1321992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 12418593 LMTK2 lemur tyrosine kinase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12418593 LMTK2 lemur tyrosine kinase 2 gene DOID:630 genetic disease ISO RGD:1315801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12418593 LMTK2 lemur tyrosine kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264097 12418612 PRIMA1 proline rich membrane anchor 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1315672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy PMID:17576681|PMID:26467025|PMID:28492532|PMID:9536098 12418612 PRIMA1 proline rich membrane anchor 1 gene DOID:0080054 achondrogenesis type IA ISO RGD:1315672 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12418612 PRIMA1 proline rich membrane anchor 1 gene DOID:0081063 DICER1 syndrome ISO RGD:1315672 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 12418612 PRIMA1 proline rich membrane anchor 1 gene DOID:630 genetic disease ISO RGD:1315672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12418612 PRIMA1 proline rich membrane anchor 1 gene DOID:9884 muscular dystrophy ISO RGD:1315672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22906800 12418627 MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:0060067 Pearson syndrome ISO RGD:1348759 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pearson syndrome PMID:32906214|PMID:33633954 12418627 MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1348759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:18524835|PMID:21457906 12418627 MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:0070350 spinal muscular atrophy with predominant lower extremity 2B ISO RGD:1348759 D RGD:9068941 20200609 RGD DNA:missense mutation: :m.14459G>A (p.A72V) (human) PMID:8016139|REF_RGD_ID:8657128 12418627 MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:0080600 COVID-19 ISO RGD:1348759 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12418627 MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24088041|PMID:26633545 12418627 MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:1432 blindness ISO RGD:1348759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blindness PMID:25741868 12418627 MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:3650 lactic acidosis ISO RGD:735386 D RGD:9068941 20220825 MouseDO 12418627 MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:3652 Leigh disease ISO RGD:1348759 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:10072046|PMID:10631164|PMID:10894222|PMID:11241853|PMID:11781695|PMID:12205655|PMID:12736867|PMID:12827453|PMID:14520668|PMID:14595656|PMID:1463007|PMID:14735585|PMID:15637703|PMID:15922297|PMID:15954041|PMID:16337195|PMID:1634041|PMID:16380132|PMID:18524835|PMID:18674747|PMID:19555656|PMID:20301353|PMID:21457906|PMID:21504270|PMID:21838605|PMID:24088041|PMID:25741868|PMID:26633545|PMID:29987491|PMID:30143805|PMID:32906214|PMID:35715829|PMID:5511487|PMID:7654063|PMID:8016139|PMID:8470982|PMID:8622678|PMID:8854108|PMID:9012411|PMID:9177303|PMID:9849804 12418627 MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:3687 MELAS syndrome ISO RGD:1348759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke PMID:11781695 12418627 MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:5389 oxyphilic adenoma ISO RGD:1348759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oxyphilic adenoma PMID:21555623 12418627 MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:543 dystonia ISO RGD:1348759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:24088041|PMID:26633545 12418627 MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:700 mitochondrial metabolism disease ISO RGD:1348759 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:10072046|PMID:10631164|PMID:10894222|PMID:11133798|PMID:11781695|PMID:12112086|PMID:12205655|PMID:12736867|PMID:12827453|PMID:14520668|PMID:14595656|PMID:1463007|PMID:14735585|PMID:15954041|PMID:16337195|PMID:1634041|PMID:16380132|PMID:18674747|PMID:20301353|PMID:25741868|PMID:30143805|PMID:32906214|PMID:35715829|PMID:5511487|PMID:7654063|PMID:8016139|PMID:8470982|PMID:8622678|PMID:9012411|PMID:9849804 12418627 MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1348759 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia PMID:10072046|PMID:10631164|PMID:10894222|PMID:11133798|PMID:12112086|PMID:12205655|PMID:12736867|PMID:12827453|PMID:14520668|PMID:14595656|PMID:1463007|PMID:14735585|PMID:15922297|PMID:15954041|PMID:16337195|PMID:1634041|PMID:16380132|PMID:18674747|PMID:20301353|PMID:25741868|PMID:29987491|PMID:30143805|PMID:32906214|PMID:35715829|PMID:5511487|PMID:7654063|PMID:8016139|PMID:8470982|PMID:8622678|PMID:8644732|PMID:8854108|PMID:9012411|PMID:9177303|PMID:9849804 12418627 MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1348759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia 12418627 MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:9002174 Disease Susceptibility ISO RGD:1348759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20130021 12418627 MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1348759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:25741868 12418627 MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:9003594 Mitochondrial Cytopathy ISO RGD:1348759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial cytopathy PMID:28027978 12418627 MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1348759 D RGD:9068941 20200609 RGD DNA:missense mutation: :m.14487T>C (p.M63V) (human) PMID:20019223|REF_RGD_ID:6482231 12418627 MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:9005850 Hereditary Optic Atrophies ISO RGD:1348759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10072046 12418627 MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:620561 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood PMID:20130021|REF_RGD_ID:8657129 12418627 MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:9007525 Leigh Syndrome Due To Mitochondrial Complex I Deficiency ISO RGD:1348759 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Leigh syndrome due to mitochondrial complex I deficiency PMID:10894222|PMID:12205655|PMID:14520668|PMID:14595656|PMID:14735585|PMID:16337195|PMID:16380132|PMID:20301353|PMID:25741868|PMID:30143805|PMID:32906214|PMID:35715829|PMID:7654063|PMID:8016139|PMID:8622678 12418627 MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:9008391 Bilateral Striatal Necrosis with Dystonia ISO RGD:1348759 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Striatal necrosis, bilateral, with dystonia PMID:12205655|PMID:14520668|PMID:14595656|PMID:16337195|PMID:32906214|PMID:35715829 12418644 ATP5ME ATP synthase membrane subunit e gene DOID:0110375 retinitis pigmentosa 40 ISO RGD:1350783 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 40 12418644 ATP5ME ATP synthase membrane subunit e gene DOID:114 heart disease ISO RGD:733939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 12418644 ATP5ME ATP synthase membrane subunit e gene DOID:1856 cherubism ISO RGD:1350783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12418644 ATP5ME ATP synthase membrane subunit e gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1350783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 12418652 TMEM237 transmembrane protein 237 gene DOID:0050777 Joubert syndrome ISO RGD:1315474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:17603801|PMID:22152675|PMID:22981120|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31019026|PMID:31710777 12418652 TMEM237 transmembrane protein 237 gene DOID:0050778 Meckel syndrome ISO RGD:1315474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25558065|PMID:25741868 12418652 TMEM237 transmembrane protein 237 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1315474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12418652 TMEM237 transmembrane protein 237 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1315474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12418652 TMEM237 transmembrane protein 237 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1315474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1 PMID:25741868|PMID:28492532 12418652 TMEM237 transmembrane protein 237 gene DOID:0110983 Joubert syndrome 14 ISO RGD:1315474 D RGD:7240710 20180130 OMIM 12418652 TMEM237 transmembrane protein 237 gene DOID:0110983 Joubert syndrome 14 ISO RGD:1315474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 14 PMID:11586298|PMID:14760273|PMID:16199547|PMID:17576681|PMID:17603801|PMID:22152675|PMID:22981120|PMID:23351400|PMID:24033266|PMID:24315819|PMID:25558065|PMID:25741868|PMID:26092869|PMID:26673778|PMID:28492532|PMID:28600779|PMID:31019026|PMID:31710777|PMID:9536098 12418652 TMEM237 transmembrane protein 237 gene DOID:630 genetic disease ISO RGD:1315474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12418652 TMEM237 transmembrane protein 237 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1315474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12418652 TMEM237 transmembrane protein 237 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12418652 TMEM237 transmembrane protein 237 gene DOID:9005843 Hereditary Spastic Paralysis, Infantile Onset Ascending ISO RGD:1315474 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis PMID:11586298|PMID:22152675|PMID:24315819|PMID:28492532 12418652 TMEM237 transmembrane protein 237 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1315474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:735912 D RGD:9068941 20220121 RGD mRNA:increased expression:lung (human) PMID:30119248|REF_RGD_ID:151347411 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:0050156 idiopathic pulmonary fibrosis treatment ISO RGD:2252 D RGD:9068941 20220121 RGD PMID:30119248|REF_RGD_ID:151347411 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:0050553 JMP syndrome ISO RGD:735912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:735912 D RGD:9068941 20220128 RGD mRNA, protein:increased expression:mouth (human) PMID:31253192|REF_RGD_ID:151347620 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:10271 D RGD:9068941 20220121 RGD PMID:28863860|REF_RGD_ID:150519888 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:11372 megacolon ISO RGD:735912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:12351 alcoholic hepatitis disease_progression ISO RGD:10271 D RGD:9068941 20220204 RGD mRNA:increased expression:liver (mouse) PMID:33173221|REF_RGD_ID:151347691 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:12351 alcoholic hepatitis severity ISO RGD:735912 D RGD:9068941 20220204 RGD mRNA:increased expression:liver (human) PMID:33173221|REF_RGD_ID:151347691 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:14018 alcoholic liver cirrhosis severity ISO RGD:735912 D RGD:9068941 20220204 RGD mRNA:increased expression:liver (human) PMID:33173221|REF_RGD_ID:151347691 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:1612 breast cancer ISO RGD:735912 D RGD:9068941 20220128 RGD mRNA, protein:increased expression:breast cancer tissue (human) PMID:31578591|REF_RGD_ID:151347435 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:1793 pancreatic cancer treatment ISO RGD:10271 D RGD:9068941 20220121 RGD PMID:31310125|REF_RGD_ID:151347425 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:2394 ovarian cancer severity ISO RGD:735912 D RGD:9068941 20220128 RGD mRNA:increased expression:ovary (human) PMID:28743276|REF_RGD_ID:151347541 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:299 adenocarcinoma ISO RGD:735912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:3070 high grade glioma severity ISO RGD:735912 D RGD:9068941 20220128 RGD mRNA, protein:increased expression:brain (human) PMID:16652150|REF_RGD_ID:151347531 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:3347 osteosarcoma ISO RGD:735912 D RGD:9068941 20220128 RGD human cells in mouse model PMID:29039472|REF_RGD_ID:151347601 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:3347 osteosarcoma severity ISO RGD:735912 D RGD:9068941 20220128 RGD protein:increased expression:bone (human) PMID:29039472|REF_RGD_ID:151347601 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:3459 breast carcinoma ISO RGD:10271 D RGD:9068941 20220128 RGD PMID:29483153|REF_RGD_ID:151347599 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:3459 breast carcinoma ISO RGD:3796 D RGD:9068941 20220128 RGD DDR1 acts with Syk PMID:21499918|REF_RGD_ID:151347448 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735912 D RGD:9068941 20210924 RGD PMID:17299390|REF_RGD_ID:150429714 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:735912 D RGD:9068941 20220128 RGD mRNA, protein:decreased expression:kidney (human) PMID:31018949|REF_RGD_ID:151347528 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:735912 D RGD:9068941 20220204 RGD mRNA:increased expression:kidney, lymph nodes (human) PMID:27020590|REF_RGD_ID:151347863 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:6000 congestive heart failure ISO RGD:2252 D RGD:9068941 20200609 RGD associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum PMID:16497176|REF_RGD_ID:1642301 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:630 genetic disease ISO RGD:735912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:10271 D RGD:9068941 20220204 RGD PMID:33173221|REF_RGD_ID:151347691 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:735912 D RGD:9068941 20220204 RGD mRNA:increased expression:liver (human) PMID:33173221|REF_RGD_ID:151347691 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:8923 skin melanoma severity ISO RGD:735912 D RGD:9068941 20220204 RGD protein:increased expression:skin lesion (human) PMID:31271515|REF_RGD_ID:151347864 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:8923 skin melanoma treatment ISO RGD:735912 D RGD:9068941 20220204 RGD human cells in mouse model; DDR1-IN-1 PMID:31271515|REF_RGD_ID:151347864 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:735912 D RGD:9068941 20220128 RGD mRNA, protein:increased expression:mouth (human) PMID:31253192|REF_RGD_ID:151347620 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9000081 Lymphatic Metastasis severity ISO RGD:735912 D RGD:9068941 20220204 RGD mRNA:increased expression:kidney, lymph nodes (human) PMID:27020590|REF_RGD_ID:151347863 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:735912 D RGD:9068941 20220128 RGD mRNA:increased expression:ovary (human) PMID:28743276|REF_RGD_ID:151347541 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:735912 D RGD:9068941 20220128 RGD protein:increased expression:bone (human) PMID:29039472|REF_RGD_ID:151347601 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9002170 Experimental Neoplasms treatment ISO RGD:735912 D RGD:9068941 20220128 RGD human cancer cells in mouse model PMID:26719540|REF_RGD_ID:11520844 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:735912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:10271 D RGD:9068941 20220128 RGD PMID:29298894|REF_RGD_ID:151347446 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21283680 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10271 D RGD:9068941 20220128 RGD protein:increased expression:kidney (mouse) PMID:31383731|REF_RGD_ID:151347540 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9006618 Liver Metastasis ISO RGD:10271 D RGD:9068941 20220128 RGD PMID:33110221|REF_RGD_ID:151347537 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9006618 Liver Metastasis ISO RGD:10271 D RGD:9068941 20220204 RGD mRNA:increased expression:liver (mouse) PMID:30666650|REF_RGD_ID:151347840 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9006618 Liver Metastasis treatment ISO RGD:735912 D RGD:9068941 20220204 RGD human cells in mouse model; nilotinib PMID:29438985|REF_RGD_ID:151347685 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:10271 D RGD:9068941 20220210 RGD PMID:32360427|REF_RGD_ID:151347874 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9009121 lung metastasis ISO RGD:10271 D RGD:9068941 20220128 RGD PMID:29483153|REF_RGD_ID:151347599 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9256 colorectal cancer ISO RGD:10271 D RGD:9068941 20220204 RGD mRNA:increased expression:colon (mouse) PMID:30666650|REF_RGD_ID:151347840 12418672 DDR1 discoidin domain receptor tyrosine kinase 1 gene DOID:9256 colorectal cancer severity ISO RGD:735912 D RGD:9068941 20220204 RGD protein:increased expression, increased phosphorylation:tumor cells (human) PMID:29438985|REF_RGD_ID:151347685 12418710 FAM107A family with sequence similarity 107 member A gene DOID:3070 high grade glioma ISO RGD:1605094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16865689 12418710 FAM107A family with sequence similarity 107 member A gene DOID:630 genetic disease ISO RGD:1605094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12418736 LOC102153343 uncharacterized LOC102153343 gene DOID:630 genetic disease ISO RGD:1342941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12418745 SLC5A10 solute carrier family 5 member 10 gene DOID:0050777 Joubert syndrome ISO RGD:1313138 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12418745 SLC5A10 solute carrier family 5 member 10 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1313138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12418745 SLC5A10 solute carrier family 5 member 10 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1313138 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 12418745 SLC5A10 solute carrier family 5 member 10 gene DOID:12849 autistic disorder ISO RGD:1313138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12418745 SLC5A10 solute carrier family 5 member 10 gene DOID:630 genetic disease ISO RGD:1313138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12418745 SLC5A10 solute carrier family 5 member 10 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1313138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 12418787 G6PC glucose-6-phosphatase catalytic subunit 1 gene DOID:9007637 Glycogen Storage Disease IA IAGP D RGD:12801476 20230412 OMIA Glycogen storage disease Ia PMID:8578635|PMID:9259982|PMID:11199168|PMID:12101432|PMID:21318173|PMID:21654821|PMID:20163245|PMID:18362924|PMID:23623482|PMID:22310927|PMID:22185325|PMID:19293457|PMID:30043186|PMID:29802554|PMID:31890731|PMID:33348688|PMID:34610166|PMID:36006546|PMID:37021039 12418787 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:733336 D RGD:9068941 20200609 RGD PMID:30100243|REF_RGD_ID:14695535 12418787 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:733336 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:27840945|REF_RGD_ID:14695545 12418787 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:0081329 glycogen storage disease I ISO RGD:736011 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency | ClinVar Annotator: match by term: Glycogen storage disease, type I PMID:10070617|PMID:10094563|PMID:10234610|PMID:10322403|PMID:10447271|PMID:10604148|PMID:10612834|PMID:10737986|PMID:10738525|PMID:10748407|PMID:10797430|PMID:10834516|PMID:10874313|PMID:10944847|PMID:10960498|PMID:11058903|PMID:11058910|PMID:11161844|PMID:11196115|PMID:11310582|PMID:11386847|PMID:11596659|PMID:11739393|PMID:11851840|PMID:11916325|PMID:11949931|PMID:12093795|PMID:12373566|PMID:12713862|PMID:15151508|PMID:15316959|PMID:15455297|PMID:15542400|PMID:15918042|PMID:16199547|PMID:16435186|PMID:17576681|PMID:17607665|PMID:17994282|PMID:18008183|PMID:18083610|PMID:18449899|PMID:19541498|PMID:19762333|PMID:19815695|PMID:20301489|PMID:20509832|PMID:20532819|PMID:21599942|PMID:2172641|PMID:21983240|PMID:22899091|PMID:22909800|PMID:23000067|PMID:23046672|PMID:23312056|PMID:23352793|PMID:23486339|PMID:24033266|PMID:24082139|PMID:24385852|PMID:24565827|PMID:24980439|PMID:25308557|PMID:25333069|PMID:25492228|PMID:25640679|PMID:25741868|PMID:27511118|PMID:28360385|PMID:28397058|PMID:28492532|PMID:28659124|PMID:29374762|PMID:29486517|PMID:29581464|PMID:29750741|PMID:29970488|PMID:30279644|PMID:30890478|PMID:30956637|PMID:31415093|PMID:31508908|PMID:32046761|PMID:32313153|PMID:32772503|PMID:33101979|PMID:33224545|PMID:33258288|PMID:33763395|PMID:34093448|PMID:34258141|PMID:7525963|PMID:7573034|PMID:7623438|PMID:7655466|PMID:7668282|PMID:7744838|PMID:7814621|PMID:8163185|PMID:8182131|PMID:8211187|PMID:8733042|PMID:8734807|PMID:9001800|PMID:9332655|PMID:9359038|PMID:9506659|PMID:9536098|PMID:9630072|PMID:9700612|PMID:9700613|PMID:9705299 12418787 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:11714 gestational diabetes ISO RGD:733336 D RGD:9068941 20200609 RGD protein:increased activity:liver PMID:12595588|REF_RGD_ID:2315965 12418787 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:2747 glycogen storage disease ISO RGD:736011 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glycogen storage disease PMID:10070617|PMID:10612834|PMID:10738525|PMID:10834516|PMID:10874313|PMID:11058903|PMID:11310582|PMID:11739393|PMID:11949931|PMID:12093795|PMID:12373566|PMID:12713862|PMID:15316959|PMID:18008183|PMID:18449899|PMID:19541498|PMID:19762333|PMID:19815695|PMID:20301489|PMID:21599942|PMID:2172641|PMID:23312056|PMID:24033266|PMID:24082139|PMID:24385852|PMID:25308557|PMID:25333069|PMID:25741868|PMID:28397058|PMID:28492532|PMID:29486517|PMID:29750741|PMID:29970488|PMID:32313153|PMID:33101979|PMID:33224545|PMID:33763395|PMID:34093448|PMID:7573034|PMID:7623438|PMID:7744838|PMID:7814621|PMID:8182131|PMID:8211187|PMID:8733042|PMID:8734807|PMID:9332655 12418787 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:2749 glycogen storage disease Ia ISO RGD:736011 D RGD:7240710 20230505 OMIM 12418787 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:2749 glycogen storage disease Ia ISO RGD:736011 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GSD Ia | ClinVar Annotator: match by term: Hepatorenal glycogenosis PMID:10070617|PMID:10094563|PMID:10234610|PMID:10322403|PMID:10447271|PMID:10604148|PMID:10612834|PMID:10737986|PMID:10738525|PMID:10748407|PMID:10797430|PMID:10834516|PMID:10874313|PMID:10944847|PMID:10960498|PMID:11058903|PMID:11058910|PMID:11161844|PMID:11196115|PMID:11310582|PMID:11386847|PMID:11596659|PMID:11739393|PMID:11851840|PMID:11916325|PMID:11949931|PMID:12093795|PMID:12373566|PMID:12713862|PMID:15151508|PMID:15316959|PMID:15455297|PMID:15542400|PMID:15918042|PMID:16199547|PMID:16435186|PMID:17576681|PMID:17607665|PMID:17994282|PMID:18008183|PMID:18083610|PMID:18449899|PMID:19541498|PMID:19762333|PMID:19815695|PMID:20301489|PMID:20509832|PMID:20532819|PMID:21599942|PMID:2172641|PMID:21983240|PMID:22899091|PMID:22909800|PMID:23000067|PMID:23046672|PMID:23312056|PMID:23352793|PMID:23486339|PMID:24033266|PMID:24082139|PMID:24385852|PMID:24565827|PMID:24980439|PMID:25308557|PMID:25333069|PMID:25492228|PMID:25640679|PMID:25741868|PMID:27511118|PMID:28360385|PMID:28397058|PMID:28492532|PMID:28659124|PMID:29374762|PMID:29486517|PMID:29581464|PMID:29750741|PMID:29970488|PMID:30279644|PMID:30890478|PMID:30956637|PMID:31415093|PMID:31508908|PMID:32046761|PMID:32313153|PMID:32772503|PMID:33101979|PMID:33224545|PMID:33258288|PMID:33763395|PMID:34093448|PMID:34258141|PMID:7525963|PMID:7573034|PMID:7623438|PMID:7655466|PMID:7668282|PMID:7744838|PMID:7814621|PMID:8163185|PMID:8182131|PMID:8211187|PMID:8733042|PMID:8734807|PMID:9001800|PMID:9332655|PMID:9359038|PMID:9506659|PMID:9536098|PMID:9630072|PMID:9700612|PMID:9700613|PMID:9705299 12418787 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:2749 glycogen storage disease Ia treatment ISO RGD:736011 D RGD:9068941 20230406 RGD human gene in a mouse model PMID:20389290|REF_RGD_ID:14695538 12418787 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:630 genetic disease ISO RGD:736011 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10070617|PMID:10604148|PMID:10612834|PMID:10738525|PMID:10834516|PMID:10874313|PMID:11058903|PMID:11310582|PMID:11739393|PMID:11949931|PMID:12093795|PMID:12373566|PMID:12713862|PMID:15316959|PMID:18008183|PMID:18449899|PMID:19541498|PMID:19762333|PMID:19815695|PMID:20301489|PMID:20509832|PMID:21599942|PMID:2172641|PMID:23312056|PMID:24033266|PMID:24082139|PMID:24385852|PMID:24980439|PMID:25308557|PMID:25333069|PMID:25741868|PMID:28397058|PMID:28492532|PMID:29486517|PMID:29581464|PMID:29750741|PMID:29970488|PMID:30279644|PMID:30956637|PMID:32313153|PMID:33101979|PMID:33224545|PMID:33763395|PMID:34093448|PMID:34258141|PMID:7573034|PMID:7623438|PMID:7744838|PMID:7814621|PMID:8182131|PMID:8211187|PMID:8733042|PMID:8734807|PMID:9332655|PMID:9630072 12418787 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:736011 D RGD:9068941 20200609 RGD associated with Glycogen Storage Disease IA, human gene in a mouse model PMID:28096054|REF_RGD_ID:14695537 12418787 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736011 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12418787 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2644 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver (rat) PMID:23744881|REF_RGD_ID:14695550 12418787 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2644 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:15448092|REF_RGD_ID:2315963 12418787 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2644 D RGD:9068941 20200609 RGD protein:increased activity:liver, kidney PMID:16176150|REF_RGD_ID:2315960 12418787 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2644 D RGD:9068941 20200609 RGD PMID:27366200|REF_RGD_ID:14695533 12418787 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733336 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (mouse) PMID:28189721|REF_RGD_ID:14695531 12418787 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9007661 Dwarfism ISO RGD:736011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:10612834|PMID:10834516|PMID:10874313|PMID:11310582|PMID:11739393|PMID:12093795|PMID:12373566|PMID:12713862|PMID:15316959|PMID:18008183|PMID:18449899|PMID:20301489|PMID:21599942|PMID:2172641|PMID:23312056|PMID:24033266|PMID:24082139|PMID:24385852|PMID:25308557|PMID:25333069|PMID:25741868|PMID:28397058|PMID:28492532|PMID:29750741|PMID:32313153|PMID:33224545|PMID:33763395|PMID:34093448|PMID:7573034|PMID:7623438|PMID:7744838|PMID:7814621|PMID:8182131|PMID:8211187|PMID:8734807|PMID:9332655 12418787 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9007874 Liver Failure disease_progression ISO RGD:736011 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:24583248|REF_RGD_ID:14695536 12418787 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2644 D RGD:9068941 20200609 RGD PMID:16396963|REF_RGD_ID:2315959 12418787 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733336 D RGD:9068941 20200609 RGD PMID:8865366|REF_RGD_ID:728661 12418787 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736011 D RGD:9068941 20200609 RGD protein:increased activity:liver PMID:10866049|REF_RGD_ID:2315966 12418787 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9452 fatty liver disease ISO RGD:2644 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:29534506|REF_RGD_ID:14695544 12418787 G6PC1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9993 hypoglycemia ISO RGD:736011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:10612834|PMID:10834516|PMID:10874313|PMID:11310582|PMID:11739393|PMID:12093795|PMID:12373566|PMID:12713862|PMID:15316959|PMID:18008183|PMID:18449899|PMID:20301489|PMID:21599942|PMID:2172641|PMID:23312056|PMID:24033266|PMID:24082139|PMID:24385852|PMID:25308557|PMID:25333069|PMID:25741868|PMID:28397058|PMID:28492532|PMID:29750741|PMID:32313153|PMID:33224545|PMID:33763395|PMID:34093448|PMID:7573034|PMID:7623438|PMID:7744838|PMID:7814621|PMID:8182131|PMID:8211187|PMID:8734807|PMID:9332655 12418796 IFT74 intraflagellar transport 74 gene DOID:0050545 visceral heterotaxy ISO RGD:1623977 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 12418796 IFT74 intraflagellar transport 74 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1342560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:29068549 12418796 IFT74 intraflagellar transport 74 gene DOID:0060041 autism spectrum disorder ISO RGD:1342560 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12418796 IFT74 intraflagellar transport 74 gene DOID:0081011 Bardet-Biedl syndrome 22 ISO RGD:1342560 D RGD:7240710 20190315 OMIM 12418796 IFT74 intraflagellar transport 74 gene DOID:0081011 Bardet-Biedl syndrome 22 ISO RGD:1342560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 22 PMID:17576681|PMID:25741868|PMID:27486776|PMID:28492532|PMID:32144365|PMID:33531668|PMID:33748949|PMID:9536098 12418796 IFT74 intraflagellar transport 74 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1342560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:17576681|PMID:28492532|PMID:29068549|PMID:9536098 12418796 IFT74 intraflagellar transport 74 gene DOID:0112352 spermatogenic failure 58 ISO RGD:1342560 D RGD:7240710 20211110 OMIM 12418796 IFT74 intraflagellar transport 74 gene DOID:0112352 spermatogenic failure 58 ISO RGD:1342560 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 58 PMID:25741868|PMID:33689014 12418796 IFT74 intraflagellar transport 74 gene DOID:10907 microcephaly ISO RGD:1342560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12418796 IFT74 intraflagellar transport 74 gene DOID:630 genetic disease ISO RGD:1342560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33531668|PMID:34539760 12418796 IFT74 intraflagellar transport 74 gene DOID:9000733 Joubert Syndrome 40 ISO RGD:1342560 D RGD:7240710 20211110 OMIM 12418796 IFT74 intraflagellar transport 74 gene DOID:9000733 Joubert Syndrome 40 ISO RGD:1342560 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Joubert syndrome 40 PMID:25741868|PMID:28492532|PMID:31690835|PMID:33531668|PMID:34539760 12418841 FAAP24 FA core complex associated protein 24 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12418841 FAAP24 FA core complex associated protein 24 gene DOID:630 genetic disease ISO RGD:1605898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12418869 SYCP2 synaptonemal complex protein 2 gene DOID:0070168 spermatogenic failure 3 ISO RGD:69483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:31866047 12418869 SYCP2 synaptonemal complex protein 2 gene DOID:0070176 spermatogenic failure 4 ISO RGD:69483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early spermatogenesis maturation arrest PMID:25741868|PMID:31866047 12418869 SYCP2 synaptonemal complex protein 2 gene DOID:0070188 spermatogenic failure 1 ISO RGD:69483 D RGD:7240710 20200318 OMIM 12418869 SYCP2 synaptonemal complex protein 2 gene DOID:0070188 spermatogenic failure 1 ISO RGD:69483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligosynaptic infertility PMID:25741868|PMID:31866047 12418869 SYCP2 synaptonemal complex protein 2 gene DOID:10283 prostate cancer ISO RGD:69483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12418869 SYCP2 synaptonemal complex protein 2 gene DOID:630 genetic disease ISO RGD:69483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12418869 SYCP2 synaptonemal complex protein 2 gene DOID:9003436 CRYPTOZOOSPERMIA ISO RGD:69483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptozoospermia PMID:25741868|PMID:31866047 12418937 KIF23 kinesin family member 23 gene DOID:0080600 COVID-19 ISO RGD:1318460 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12418937 KIF23 kinesin family member 23 gene DOID:0111399 congenital dyserythropoietic anemia type III ISO RGD:1318460 D RGD:7240710 20220406 OMIM 12418937 KIF23 kinesin family member 23 gene DOID:0111399 congenital dyserythropoietic anemia type III ISO RGD:1318460 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type III PMID:13867810|PMID:14886400|PMID:23570799|PMID:25741868|PMID:28492532|PMID:33159567 12418937 KIF23 kinesin family member 23 gene DOID:10907 microcephaly ISO RGD:1318460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:26539891 12418937 KIF23 kinesin family member 23 gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1318460 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism 12418937 KIF23 kinesin family member 23 gene DOID:2717 Bloom syndrome ISO RGD:1318460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12418937 KIF23 kinesin family member 23 gene DOID:630 genetic disease ISO RGD:1318460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12418937 KIF23 kinesin family member 23 gene DOID:684 hepatocellular carcinoma ISO RGD:1318460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12418937 KIF23 kinesin family member 23 gene DOID:9256 colorectal cancer ISO RGD:1318460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12418964 HTT huntingtin gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:68472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 12418964 HTT huntingtin gene DOID:12858 Huntington's disease ISO RGD:68472 D RGD:7240710 20180130 OMIM 12418964 HTT huntingtin gene DOID:12858 Huntington's disease ISO RGD:68472 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Huntington disease PMID:25741868|PMID:28492532 12418964 HTT huntingtin gene DOID:12858 Huntington's disease onset ISO RGD:68472 D RGD:9068941 20200609 RGD DNA:repeats:cds:CAG (human) PMID:8242074|REF_RGD_ID:10403029 12418964 HTT huntingtin gene DOID:12858 Huntington's disease treatment ISO RGD:68472 D RGD:9068941 20200609 RGD PMID:17940007|REF_RGD_ID:10403026 12418964 HTT huntingtin gene DOID:14330 Parkinson's disease ISO RGD:68472 D RGD:9068941 20200609 RGD PMID:26192120|REF_RGD_ID:13452383 12418964 HTT huntingtin gene DOID:1856 cherubism ISO RGD:68472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12418964 HTT huntingtin gene DOID:1969 cerebral palsy ISO RGD:68472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 12418964 HTT huntingtin gene DOID:224 transient cerebral ischemia ISO RGD:68337 D RGD:9068941 20200609 RGD protein:increased degradation:brain PMID:12957494|REF_RGD_ID:1304431 12418964 HTT huntingtin gene DOID:480 movement disease ISO RGD:68472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20929960 12418964 HTT huntingtin gene DOID:630 genetic disease ISO RGD:68472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12418964 HTT huntingtin gene DOID:9000304 Manganese Poisoning ISO RGD:68472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19845833 12418964 HTT huntingtin gene DOID:9000409 Lopes-Maciel-Rodan Syndrome ISO RGD:68472 D RGD:7240710 20190315 OMIM 12418964 HTT huntingtin gene DOID:9000409 Lopes-Maciel-Rodan Syndrome ISO RGD:68472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lopes-Maciel-Rodan syndrome PMID:25741868|PMID:26740508|PMID:27329733|PMID:28492532|PMID:33116287 12418964 HTT huntingtin gene DOID:9001191 Cadmium Poisoning ISO RGD:68472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19845833 12419039 PPP2R5C protein phosphatase 2 regulatory subunit B'gamma gene DOID:0081206 autosomal recessive intellectual developmental disorder 41 ISO RGD:1319620 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Macrocephaly-developmental delay syndrome PMID:25741868 12419039 PPP2R5C protein phosphatase 2 regulatory subunit B'gamma gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1319620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12419039 PPP2R5C protein phosphatase 2 regulatory subunit B'gamma gene DOID:10283 prostate cancer ISO RGD:1319620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12419039 PPP2R5C protein phosphatase 2 regulatory subunit B'gamma gene DOID:1059 intellectual disability ISO RGD:1319620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12419039 PPP2R5C protein phosphatase 2 regulatory subunit B'gamma gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1319620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12419039 PPP2R5C protein phosphatase 2 regulatory subunit B'gamma gene DOID:630 genetic disease ISO RGD:1319620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419039 PPP2R5C protein phosphatase 2 regulatory subunit B'gamma gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1319620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16038780 12419039 PPP2R5C protein phosphatase 2 regulatory subunit B'gamma gene DOID:9003882 Chromosomal Instability ISO RGD:1319620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25772433 12419039 PPP2R5C protein phosphatase 2 regulatory subunit B'gamma gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12419039 PPP2R5C protein phosphatase 2 regulatory subunit B'gamma gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1319620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25772433 12419039 PPP2R5C protein phosphatase 2 regulatory subunit B'gamma gene DOID:9008086 Developmental Disabilities ISO RGD:1319620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12419073 GPATCH8 G-patch domain containing 8 gene DOID:630 genetic disease ISO RGD:1604390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419100 FMR1 Fragile X messenger ribonucleoprotein 1 gene DOID:0050879 fragile X-associated tremor/ataxia syndrome ISO RGD:735919 D RGD:7240710 20180130 OMIM 12419100 FMR1 Fragile X messenger ribonucleoprotein 1 gene DOID:0060001 withdrawal disorder ISO RGD:2623 D RGD:9068941 20200609 RGD mRNA:decreased expression:prefrontal cortex (rat) PMID:24810662|REF_RGD_ID:11667955 12419100 FMR1 Fragile X messenger ribonucleoprotein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:2623 D RGD:9068941 20200609 RGD PMID:24773431|REF_RGD_ID:9831152 12419100 FMR1 Fragile X messenger ribonucleoprotein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:735920 D RGD:9068941 20220825 MouseDO 12419100 FMR1 Fragile X messenger ribonucleoprotein 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:2623 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus, cytosol (rat) PMID:23831253|REF_RGD_ID:11667971 12419100 FMR1 Fragile X messenger ribonucleoprotein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12419100 FMR1 Fragile X messenger ribonucleoprotein 1 gene DOID:0080600 COVID-19 ISO RGD:735919 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12419100 FMR1 Fragile X messenger ribonucleoprotein 1 gene DOID:0080857 primary ovarian insufficiency 1 ISO RGD:735919 D RGD:7240710 20200219 OMIM 12419100 FMR1 Fragile X messenger ribonucleoprotein 1 gene DOID:1059 intellectual disability ISO RGD:735919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868 12419100 FMR1 Fragile X messenger ribonucleoprotein 1 gene DOID:12849 autistic disorder ISO RGD:735919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:21681106|PMID:25741868|PMID:30208311 12419100 FMR1 Fragile X messenger ribonucleoprotein 1 gene DOID:14261 fragile X syndrome ISO RGD:735919 D RGD:7240710 20180130 OMIM 12419100 FMR1 Fragile X messenger ribonucleoprotein 1 gene DOID:14261 fragile X syndrome ISO RGD:735919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fragile X syndrome PMID:15805463|PMID:18664458|PMID:21267007|PMID:25171808|PMID:25741868|PMID:7530551|PMID:7633450|PMID:7670500|PMID:8156595|PMID:8490650|PMID:9659908 12419100 FMR1 Fragile X messenger ribonucleoprotein 1 gene DOID:14447 gonadal dysgenesis ISO RGD:735919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22043169 12419100 FMR1 Fragile X messenger ribonucleoprotein 1 gene DOID:1561 cognitive disorder ISO RGD:735919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22043169 12419100 FMR1 Fragile X messenger ribonucleoprotein 1 gene DOID:2030 anxiety disorder ISO RGD:735919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28616095 12419100 FMR1 Fragile X messenger ribonucleoprotein 1 gene DOID:224 transient cerebral ischemia ISO RGD:2623 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:striatum (rat) PMID:22817682|REF_RGD_ID:11566024 12419100 FMR1 Fragile X messenger ribonucleoprotein 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:735919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12548733 12419100 FMR1 Fragile X messenger ribonucleoprotein 1 gene DOID:630 genetic disease ISO RGD:735919 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10448821|PMID:10611212|PMID:12418611|PMID:12529854|PMID:12871874|PMID:15052536|PMID:16700053|PMID:17166801|PMID:19367323|PMID:20799337|PMID:22463693|PMID:24448548|PMID:25171808|PMID:25561520|PMID:25741868|PMID:26819560|PMID:26880065|PMID:29178241|PMID:8037202|PMID:8490650|PMID:9606468 12419100 FMR1 Fragile X messenger ribonucleoprotein 1 gene DOID:9000998 Brain Injuries ISO RGD:2623 D RGD:9068941 20200609 RGD protein:altered localization:hippocampus (rat) PMID:16510718|REF_RGD_ID:11667962 12419100 FMR1 Fragile X messenger ribonucleoprotein 1 gene DOID:9001487 Facies ISO RGD:735919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22043169 12419100 FMR1 Fragile X messenger ribonucleoprotein 1 gene DOID:9005363 Primary Ovarian Insufficiency, Fragile X-Associated ISO RGD:735920 D RGD:9068941 20200609 RGD PMID:22470123|REF_RGD_ID:12050152 12419100 FMR1 Fragile X messenger ribonucleoprotein 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:735919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20425835 12419100 FMR1 Fragile X messenger ribonucleoprotein 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17065172|PMID:22043169 12419141 LOX lysyl oxidase gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12419141 LOX lysyl oxidase gene DOID:0080685 aortic dissection ISO RGD:736846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute aortic dissection PMID:12417550|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:31211696|PMID:31459939 12419141 LOX lysyl oxidase gene DOID:10763 hypertension ISO RGD:3015 D RGD:9068941 20200609 RGD PMID:24127|REF_RGD_ID:1581899 12419141 LOX lysyl oxidase gene DOID:10763 hypertension ISO RGD:736846 D RGD:9068941 20200609 RGD PMID:8562290|REF_RGD_ID:1581896 12419141 LOX lysyl oxidase gene DOID:12236 primary biliary cholangitis ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 12419141 LOX lysyl oxidase gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:736846 D RGD:9068941 20200609 RGD PMID:8638917|REF_RGD_ID:1581895 12419141 LOX lysyl oxidase gene DOID:14004 thoracic aortic aneurysm ISO RGD:736846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:24033266|PMID:25741868|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:34281165 12419141 LOX lysyl oxidase gene DOID:14004 thoracic aortic aneurysm ISO RGD:736846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12417550|PMID:24033266|PMID:25741868|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:31211696|PMID:31459939|PMID:34281165 12419141 LOX lysyl oxidase gene DOID:1838 Menkes disease ISO RGD:732343 D RGD:9068941 20220825 MouseDO OMIM:309400 12419141 LOX lysyl oxidase gene DOID:1838 Menkes disease ISO RGD:736846 D RGD:9068941 20200609 RGD PMID:8638917|REF_RGD_ID:1581895 12419141 LOX lysyl oxidase gene DOID:1883 hepatitis C ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 12419141 LOX lysyl oxidase gene DOID:1928 Williams-Beuren syndrome ISO RGD:732343 D RGD:9068941 20220825 MouseDO OMIM:194050 12419141 LOX lysyl oxidase gene DOID:2043 hepatitis B ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 12419141 LOX lysyl oxidase gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:736846 D RGD:9068941 20211112 RGD PMID:21282564|REF_RGD_ID:150520218 12419141 LOX lysyl oxidase gene DOID:2349 arteriosclerosis ISO RGD:3015 D RGD:9068941 20200609 RGD PMID:24127|REF_RGD_ID:1581899 12419141 LOX lysyl oxidase gene DOID:3144 cutis laxa ISO RGD:736846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:25741868 12419141 LOX lysyl oxidase gene DOID:3347 osteosarcoma ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23886186 12419141 LOX lysyl oxidase gene DOID:3393 coronary artery disease ISO RGD:3015 D RGD:9068941 20200609 RGD PMID:12393934|REF_RGD_ID:1581886 12419141 LOX lysyl oxidase gene DOID:3627 aortic aneurysm ISO RGD:732343 D RGD:9068941 20200609 RGD PMID:12417550|REF_RGD_ID:1581885 12419141 LOX lysyl oxidase gene DOID:4247 coronary restenosis ISO RGD:3015 D RGD:9068941 20200609 RGD PMID:15218472|REF_RGD_ID:1581881 12419141 LOX lysyl oxidase gene DOID:5082 liver cirrhosis ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 12419141 LOX lysyl oxidase gene DOID:57 aortic valve insufficiency ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 12419141 LOX lysyl oxidase gene DOID:5773 oral submucous fibrosis ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 12419141 LOX lysyl oxidase gene DOID:5844 myocardial infarction ISO RGD:732343 D RGD:9068941 20200609 RGD PMID:14553832|REF_RGD_ID:1581883 12419141 LOX lysyl oxidase gene DOID:630 genetic disease ISO RGD:736846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26838787|PMID:28492532|PMID:29961567 12419141 LOX lysyl oxidase gene DOID:6432 pulmonary hypertension ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24614111 12419141 LOX lysyl oxidase gene DOID:65 connective tissue disease ISO RGD:736846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 12419141 LOX lysyl oxidase gene DOID:7693 abdominal aortic aneurysm ISO RGD:3015 D RGD:9068941 20200609 RGD PMID:10965315|REF_RGD_ID:1581887 12419141 LOX lysyl oxidase gene DOID:893 Wilson disease ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 12419141 LOX lysyl oxidase gene DOID:9000442 Familial Thoracic Aortic Aneurysm 10 ISO RGD:736846 D RGD:7240710 20190315 OMIM 12419141 LOX lysyl oxidase gene DOID:9000442 Familial Thoracic Aortic Aneurysm 10 ISO RGD:736846 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-Related Disorder | ClinVar Annotator: match by term: LOX-related disorders PMID:12417550|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25017124|PMID:25741868|PMID:26838787|PMID:27432961|PMID:28492532|PMID:29086201|PMID:29961567|PMID:30675029|PMID:31211624|PMID:31506931|PMID:32860008|PMID:33648514|PMID:34281165|PMID:9536098 12419141 LOX lysyl oxidase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12419141 LOX lysyl oxidase gene DOID:9002884 Emphysema ISO RGD:736846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emphysema PMID:25741868 12419141 LOX lysyl oxidase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12419141 LOX lysyl oxidase gene DOID:9005883 Pleural Effusion ISO RGD:736846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleural effusion PMID:25741868 12419141 LOX lysyl oxidase gene DOID:9007023 Prenatal Injuries ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20045017 12419141 LOX lysyl oxidase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12419141 LOX lysyl oxidase gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:736846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial aortic dissection | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:12417550|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:31211696|PMID:31459939 12419141 LOX lysyl oxidase gene DOID:9256 colorectal cancer severity ISO RGD:736846 D RGD:9068941 20211112 RGD PMID:21282564|REF_RGD_ID:150520218 12419141 LOX lysyl oxidase gene DOID:9675 pulmonary emphysema ISO RGD:736846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary emphysema PMID:25741868 12419154 CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1601858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 12419154 CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 gene DOID:630 genetic disease ISO RGD:1601858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12419154 CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1601858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12419154 CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 gene DOID:9008465 SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE ISO RGD:1601858 D RGD:7240710 20200826 OMIM 12419154 CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 gene DOID:9008465 SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE ISO RGD:1601858 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia, mild, with joint laxity and advanced bone age PMID:25741868|PMID:27599773|PMID:28492532|PMID:31325655|PMID:31705726 12419193 OR6C69G olfactory receptor family 6 subfamily C member 69G gene DOID:630 genetic disease ISO RGD:1349043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419196 KRT78 keratin 78 gene DOID:630 genetic disease ISO RGD:1606944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419209 TMPRSS7 transmembrane serine protease 7 gene DOID:303 substance-related disorder ISO RGD:1312220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12419209 TMPRSS7 transmembrane serine protease 7 gene DOID:630 genetic disease ISO RGD:1312220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419227 NACC2 NACC family member 2 gene DOID:0050777 Joubert syndrome ISO RGD:1319559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12419227 NACC2 NACC family member 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1319559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:27891178|PMID:28492532|PMID:31209758 12419227 NACC2 NACC family member 2 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1319559 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12419227 NACC2 NACC family member 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1319559 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12419227 NACC2 NACC family member 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12419227 NACC2 NACC family member 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1319559 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12419227 NACC2 NACC family member 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319559 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12419227 NACC2 NACC family member 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1319559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12419227 NACC2 NACC family member 2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1319559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 12419227 NACC2 NACC family member 2 gene DOID:3652 Leigh disease ISO RGD:1319559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12419227 NACC2 NACC family member 2 gene DOID:630 genetic disease ISO RGD:1319559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419227 NACC2 NACC family member 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1319559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 12419242 KCNRG potassium channel regulator gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1316250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12419242 KCNRG potassium channel regulator gene DOID:1059 intellectual disability ISO RGD:1316250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12419242 KCNRG potassium channel regulator gene DOID:630 genetic disease ISO RGD:1316250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419248 SLC25A1 solute carrier family 25 member 1 gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 2-hydroxyglutaric aciduria PMID:23393310|PMID:23561848|PMID:25741868|PMID:28492532|PMID:29238895|PMID:9031613 12419248 SLC25A1 solute carrier family 25 member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12419248 SLC25A1 solute carrier family 25 member 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1343333 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 12419248 SLC25A1 solute carrier family 25 member 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1343333 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 12419248 SLC25A1 solute carrier family 25 member 1 gene DOID:0111619 combined D-2- and L-2-hydroxyglutaric aciduria ISO RGD:1343333 D RGD:7240710 20200205 OMIM 12419248 SLC25A1 solute carrier family 25 member 1 gene DOID:0111619 combined D-2- and L-2-hydroxyglutaric aciduria ISO RGD:1343333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: D,L-2-hydroxyglutaric aciduria PMID:23393310|PMID:23561848|PMID:25741868|PMID:28492532|PMID:29031613|PMID:29238895|PMID:9031613 12419248 SLC25A1 solute carrier family 25 member 1 gene DOID:0111996 immunodeficiency 51 ISO RGD:1343333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12419248 SLC25A1 solute carrier family 25 member 1 gene DOID:1059 intellectual disability ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12419248 SLC25A1 solute carrier family 25 member 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1343333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 12419248 SLC25A1 solute carrier family 25 member 1 gene DOID:11372 megacolon ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12419248 SLC25A1 solute carrier family 25 member 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1343333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 12419248 SLC25A1 solute carrier family 25 member 1 gene DOID:12849 autistic disorder ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12419248 SLC25A1 solute carrier family 25 member 1 gene DOID:1826 epilepsy ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12419248 SLC25A1 solute carrier family 25 member 1 gene DOID:5419 schizophrenia ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12419248 SLC25A1 solute carrier family 25 member 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 12419248 SLC25A1 solute carrier family 25 member 1 gene DOID:630 genetic disease ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 12419248 SLC25A1 solute carrier family 25 member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12419248 SLC25A1 solute carrier family 25 member 1 gene DOID:9007661 Dwarfism ISO RGD:1343333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 12419248 SLC25A1 solute carrier family 25 member 1 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1343333 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 12419248 SLC25A1 solute carrier family 25 member 1 gene DOID:9009245 Congenital Myasthenic Syndrome 23 ISO RGD:1343333 D RGD:7240710 20190315 OMIM 12419248 SLC25A1 solute carrier family 25 member 1 gene DOID:9009245 Congenital Myasthenic Syndrome 23 ISO RGD:1343333 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 23, presynaptic PMID:25741868|PMID:26870663|PMID:31527857|PMID:31808147 12419261 RNF144A ring finger protein 144A gene DOID:630 genetic disease ISO RGD:1343789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419290 HMGN3 high mobility group nucleosomal binding domain 3 gene DOID:630 genetic disease ISO RGD:1352330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419290 HMGN3 high mobility group nucleosomal binding domain 3 gene DOID:9269 maple syrup urine disease ISO RGD:1352330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:16786533|PMID:22593002|PMID:24571530|PMID:28492532 12419303 CNST consortin, connexin sorting protein gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1606946 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12419303 CNST consortin, connexin sorting protein gene DOID:1540 parathyroid carcinoma ISO RGD:1606946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12419303 CNST consortin, connexin sorting protein gene DOID:50 thyroid gland disease ISO RGD:1606946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 12419303 CNST consortin, connexin sorting protein gene DOID:630 genetic disease ISO RGD:1606946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419303 CNST consortin, connexin sorting protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12419322 C30H15orf62 chromosome 30 C15orf62 homolog gene DOID:2717 Bloom syndrome ISO RGD:2299194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12419322 C30H15orf62 chromosome 30 C15orf62 homolog gene DOID:9256 colorectal cancer ISO RGD:2299194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12419340 RASL11B RAS like family 11 member B gene DOID:630 genetic disease ISO RGD:1353496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419369 ZNF865 zinc finger protein 865 gene DOID:630 genetic disease ISO RGD:4109409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419401 ASPH aspartate beta-hydroxylase gene DOID:0050834 CHARGE syndrome ISO RGD:1323751 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:18413373|PMID:19772954|PMID:22258531|PMID:22902603|PMID:28492532 12419401 ASPH aspartate beta-hydroxylase gene DOID:4947 cholangiocarcinoma ISO RGD:1323751 D RGD:9068941 20200609 RGD PMID:21898484|REF_RGD_ID:6902945 12419401 ASPH aspartate beta-hydroxylase gene DOID:630 genetic disease ISO RGD:1323751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419401 ASPH aspartate beta-hydroxylase gene DOID:8545 malignant hyperthermia ISO RGD:1323751 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia 12419401 ASPH aspartate beta-hydroxylase gene DOID:9000195 Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism ISO RGD:1323751 D RGD:7240710 20180130 OMIM 12419401 ASPH aspartate beta-hydroxylase gene DOID:9000195 Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism ISO RGD:1323751 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | ClinVar Annotator: match by term: SHAWAF-TRABOULSI SYNDROME PMID:11241487|PMID:23687502|PMID:24768550|PMID:25741868|PMID:28492532|PMID:30194805|PMID:31274573|PMID:33217155 12419401 ASPH aspartate beta-hydroxylase gene DOID:9002936 Bile Duct Neoplasms ISO RGD:1323751 D RGD:9068941 20200609 RGD mRNA:increased expression:bile duct PMID:16673309|REF_RGD_ID:2325824 12419442 MRPS18A mitochondrial ribosomal protein S18A gene DOID:0050444 infantile Refsum disease ISO RGD:1346345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12419442 MRPS18A mitochondrial ribosomal protein S18A gene DOID:630 genetic disease ISO RGD:1346345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419442 MRPS18A mitochondrial ribosomal protein S18A gene DOID:905 Zellweger syndrome ISO RGD:1346345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12419452 RBPMS RNA binding protein, mRNA processing factor gene DOID:630 genetic disease ISO RGD:1342648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419517 TGOLN2 trans-golgi network protein 2 gene DOID:50 thyroid gland disease ISO RGD:1351226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 12419517 TGOLN2 trans-golgi network protein 2 gene DOID:630 genetic disease ISO RGD:1351226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419517 TGOLN2 trans-golgi network protein 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1624067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12419525 PAAF1 proteasomal ATPase associated factor 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1602098 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12419525 PAAF1 proteasomal ATPase associated factor 1 gene DOID:1059 intellectual disability ISO RGD:1602098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12419525 PAAF1 proteasomal ATPase associated factor 1 gene DOID:630 genetic disease ISO RGD:1602098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419544 FTL ferritin light chain gene DOID:0080600 COVID-19 severity ISO RGD:1346340 D RGD:9068941 20200625 RGD associated with hyperglycemia;protein:increased expression:serum (human) PMID:32406594|REF_RGD_ID:32698682 12419544 FTL ferritin light chain gene DOID:0080600 COVID-19 severity ISO RGD:1346340 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32365221|REF_RGD_ID:30310229 12419544 FTL ferritin light chain gene DOID:0110737 neurodegeneration with brain iron accumulation 3 ISO RGD:1346340 D RGD:7240710 20180130 OMIM 12419544 FTL ferritin light chain gene DOID:0110737 neurodegeneration with brain iron accumulation 3 ISO RGD:1346340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuroferritinopathy PMID:11438811|PMID:12746423|PMID:16116125|PMID:17182944|PMID:18413574|PMID:18414213|PMID:18854324|PMID:25741868|PMID:25832658|PMID:28492532 12419544 FTL ferritin light chain gene DOID:0111256 hyperferritinemia-cataract syndrome ISO RGD:1346340 D RGD:7240710 20180130 OMIM 12419544 FTL ferritin light chain gene DOID:0111256 hyperferritinemia-cataract syndrome ISO RGD:1346340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts PMID:10366790|PMID:10366804|PMID:10383191|PMID:10759702|PMID:11438811|PMID:11703332|PMID:11849230|PMID:12199804|PMID:12200611|PMID:12670350|PMID:12730114|PMID:12746423|PMID:14662596|PMID:15173247|PMID:15690351|PMID:16518306|PMID:16900584|PMID:17182944|PMID:17576681|PMID:18414213|PMID:18710380|PMID:18854324|PMID:19176363|PMID:19800271|PMID:21541272|PMID:21907119|PMID:22881709|PMID:23300176|PMID:23421845|PMID:23592921|PMID:24766965|PMID:25741868|PMID:25832658|PMID:26633542|PMID:26849797|PMID:27096259|PMID:28492532|PMID:28746593|PMID:29269865|PMID:30401656|PMID:30678075|PMID:32241646|PMID:7492760|PMID:7493028|PMID:7669675|PMID:8233801|PMID:8781450|PMID:9226182|PMID:9292547|PMID:9414300|PMID:9414313|PMID:9536098|PMID:9726965 12419544 FTL ferritin light chain gene DOID:1289 neurodegenerative disease ISO RGD:1346340 D RGD:9068941 20200609 RGD DNA:insertion:exon:498_499InsTC (human) PMID:15099026|REF_RGD_ID:5509840 12419544 FTL ferritin light chain gene DOID:1289 neurodegenerative disease ISO RGD:1346340 D RGD:9068941 20200609 RGD DNA:insertion:exon:498_499insTC PMID:19519778|REF_RGD_ID:5509863 12419544 FTL ferritin light chain gene DOID:1289 neurodegenerative disease ISO RGD:62105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 12419544 FTL ferritin light chain gene DOID:1289 neurodegenerative disease ISO RGD:62105 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19519778|REF_RGD_ID:5509863 12419544 FTL ferritin light chain gene DOID:1596 depressive disorder ISO RGD:1346340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17063146 12419544 FTL ferritin light chain gene DOID:2351 iron metabolism disease ISO RGD:1346340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16822677 12419544 FTL ferritin light chain gene DOID:630 genetic disease ISO RGD:1346340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23940258|PMID:28492532 12419544 FTL ferritin light chain gene DOID:679 basal ganglia disease ISO RGD:1346340 D RGD:9068941 20200609 RGD DNA:insertion:exon:460_461insA(human) PMID:11438811|REF_RGD_ID:5509839 12419544 FTL ferritin light chain gene DOID:7693 abdominal aortic aneurysm ISO RGD:1346340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm PMID:17182944|PMID:18414213|PMID:25741868|PMID:28492532 12419544 FTL ferritin light chain gene DOID:8398 osteoarthritis ISO RGD:1346340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12419544 FTL ferritin light chain gene DOID:9000058 Keloid ISO RGD:1346340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 12419544 FTL ferritin light chain gene DOID:9000965 Neoplasm Metastasis ISO RGD:1346340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 12419544 FTL ferritin light chain gene DOID:9001196 Nervous System Heredodegenerative Disorders ISO RGD:1346340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16825958 12419544 FTL ferritin light chain gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1346340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20390345 12419544 FTL ferritin light chain gene DOID:9004878 L-Ferritin Deficiency ISO RGD:1346340 D RGD:7240710 20180130 OMIM 12419544 FTL ferritin light chain gene DOID:9004878 L-Ferritin Deficiency ISO RGD:1346340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: L-ferritin deficiency | ClinVar Annotator: match by term: L-ferritin deficiency, autosomal recessive PMID:15173247|PMID:17182944|PMID:18414213|PMID:23940258|PMID:25741868|PMID:28492532|PMID:30678075 12419544 FTL ferritin light chain gene DOID:9005648 Glycogen Storage Disease 0, Muscle ISO RGD:1346340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycogen storage disease 0, muscle | ClinVar Annotator: match by term: Muscle glycogen synthase deficiency PMID:17182944|PMID:18414213|PMID:25741868|PMID:28492532 12419544 FTL ferritin light chain gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:62105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12419544 FTL ferritin light chain gene DOID:9970 obesity ISO RGD:1346340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 12419552 ZMYM2 zinc finger MYM-type containing 2 gene DOID:0070004 myeloid neoplasm ISO RGD:1317868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22875613 12419552 ZMYM2 zinc finger MYM-type containing 2 gene DOID:0080205 CAKUT ISO RGD:1317868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:32891193 12419552 ZMYM2 zinc finger MYM-type containing 2 gene DOID:1059 intellectual disability ISO RGD:1317868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 12419552 ZMYM2 zinc finger MYM-type containing 2 gene DOID:14118 familial lipoprotein lipase deficiency ISO RGD:1317868 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia, type I PMID:25741868 12419552 ZMYM2 zinc finger MYM-type containing 2 gene DOID:1826 epilepsy ISO RGD:1317868 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12419552 ZMYM2 zinc finger MYM-type containing 2 gene DOID:630 genetic disease ISO RGD:1317868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32891193 12419552 ZMYM2 zinc finger MYM-type containing 2 gene DOID:9002414 NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES ISO RGD:1317868 D RGD:7240710 20211027 OMIM 12419552 ZMYM2 zinc finger MYM-type containing 2 gene DOID:9002414 NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES ISO RGD:1317868 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities PMID:25741868|PMID:28492532|PMID:32891193 12419552 ZMYM2 zinc finger MYM-type containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317868 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12419585 RBP5 retinol binding protein 5 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1344722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 12419585 RBP5 retinol binding protein 5 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1344722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 12419585 RBP5 retinol binding protein 5 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1344722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 12419585 RBP5 retinol binding protein 5 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1344722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 12419585 RBP5 retinol binding protein 5 gene DOID:0111621 Temtamy syndrome ISO RGD:1344722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 12419585 RBP5 retinol binding protein 5 gene DOID:630 genetic disease ISO RGD:1344722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419585 RBP5 retinol binding protein 5 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1344722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12419593 STMN1 stathmin 1 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:68960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 12419593 STMN1 stathmin 1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:68960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12419593 STMN1 stathmin 1 gene DOID:305 carcinoma ISO RGD:68960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12419593 STMN1 stathmin 1 gene DOID:3070 high grade glioma ISO RGD:68960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17440165 12419593 STMN1 stathmin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:68960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12419593 STMN1 stathmin 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:68960 D RGD:9068941 20200609 RGD PMID:28982915|REF_RGD_ID:21408578 12419593 STMN1 stathmin 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:68960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12419593 STMN1 stathmin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17455228 12419593 STMN1 stathmin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 12419593 STMN1 stathmin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:68960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 12419608 MACO1 macoilin 1 gene DOID:630 genetic disease ISO RGD:1605378 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419608 MACO1 macoilin 1 gene DOID:9000528 Coronary Disease ISO RGD:1605378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19060911 12419608 MACO1 macoilin 1 gene DOID:9003370 Dyslipidemias ISO RGD:1605378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19060911 12419623 EPRS1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:0050439 Usher syndrome ISO RGD:1322145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 12419623 EPRS1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1322145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12419623 EPRS1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:1059 intellectual disability ISO RGD:1322145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability 12419623 EPRS1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1322145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12419623 EPRS1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1322145 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12419623 EPRS1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:9006949 Martsolf Syndrome ISO RGD:1322145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 12419623 EPRS1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1322145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12419623 EPRS1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:9009193 Hypomyelinating Leukodystrophy 15 ISO RGD:1322145 D RGD:7240710 20190315 OMIM 12419623 EPRS1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:9009193 Hypomyelinating Leukodystrophy 15 ISO RGD:1322145 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 15 PMID:17576681|PMID:25741868|PMID:28492532|PMID:29576217|PMID:9536098 12419623 EPRS1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12419661 CSNK1A1 casein kinase 1 alpha 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:736167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 12419661 CSNK1A1 casein kinase 1 alpha 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736167 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12419661 CSNK1A1 casein kinase 1 alpha 1 gene DOID:10652 Alzheimer's disease ISO RGD:736167 D RGD:9068941 20200609 RGD protein:increased expression:CA1 field of hippocampus: PMID:10514399|REF_RGD_ID:10395229 12419661 CSNK1A1 casein kinase 1 alpha 1 gene DOID:3429 inclusion body myositis ISO RGD:736167 D RGD:9068941 20200609 RGD protein:increased expression:muscle: PMID:18191026|REF_RGD_ID:10395231 12419661 CSNK1A1 casein kinase 1 alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12419661 CSNK1A1 casein kinase 1 alpha 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736167 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12419661 CSNK1A1 casein kinase 1 alpha 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:736167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 12419685 SPRED2 sprouty related EVH1 domain containing 2 gene DOID:10652 Alzheimer's disease ISO RGD:1319580 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 12419685 SPRED2 sprouty related EVH1 domain containing 2 gene DOID:3490 Noonan syndrome ISO RGD:1319580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome PMID:25741868|PMID:34626534 12419685 SPRED2 sprouty related EVH1 domain containing 2 gene DOID:4480 achondroplasia ISO RGD:1319581 D RGD:9068941 20220825 MouseDO OMIM:100800 12419685 SPRED2 sprouty related EVH1 domain containing 2 gene DOID:630 genetic disease ISO RGD:1319580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419685 SPRED2 sprouty related EVH1 domain containing 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1319580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 12419685 SPRED2 sprouty related EVH1 domain containing 2 gene DOID:9001824 Noonan Syndrome 14 ISO RGD:1319580 D RGD:7240710 20220223 OMIM 12419685 SPRED2 sprouty related EVH1 domain containing 2 gene DOID:9001824 Noonan Syndrome 14 ISO RGD:1319580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 14 PMID:25741868|PMID:34626534 12419701 TINAG tubulointerstitial nephritis antigen gene DOID:630 genetic disease ISO RGD:1346434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419701 TINAG tubulointerstitial nephritis antigen gene DOID:9002165 Diabetic Nephropathies ISO RGD:1346434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19634143 12419716 OR2F1 olfactory receptor family 2 subfamily F member 1 gene DOID:630 genetic disease ISO RGD:1350512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419719 RAB5IF RAB5 interacting factor gene DOID:0060249 scoliosis ISO RGD:1317125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:24194475|PMID:35614220 12419719 RAB5IF RAB5 interacting factor gene DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome ISO RGD:1317125 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome PMID:24194475|PMID:35614220 12419719 RAB5IF RAB5 interacting factor gene DOID:0081125 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 ISO RGD:1317125 D RGD:7240710 20220810 OMIM 12419719 RAB5IF RAB5 interacting factor gene DOID:0081125 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 ISO RGD:1317125 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 PMID:24194475|PMID:35614220 12419719 RAB5IF RAB5 interacting factor gene DOID:1059 intellectual disability ISO RGD:1317125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:24194475|PMID:35614220 12419719 RAB5IF RAB5 interacting factor gene DOID:2234 focal epilepsy ISO RGD:1317125 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12419719 RAB5IF RAB5 interacting factor gene DOID:9003133 Hypertelorism ISO RGD:1317125 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:24194475|PMID:35614220 12419719 RAB5IF RAB5 interacting factor gene DOID:9003816 Macrocephaly ISO RGD:1317125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:24194475|PMID:35614220 12419719 RAB5IF RAB5 interacting factor gene DOID:9005616 Micrognathism ISO RGD:1317125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:24194475|PMID:35614220 12419731 CMKLR1 chemerin chemokine-like receptor 1 gene DOID:10591 pre-eclampsia ISO RGD:1348723 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34398343 12419731 CMKLR1 chemerin chemokine-like receptor 1 gene DOID:2999 granulosa cell tumor ISO RGD:1348723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29653259 12419731 CMKLR1 chemerin chemokine-like receptor 1 gene DOID:630 genetic disease ISO RGD:1348723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419749 DERL3 derlin 3 gene DOID:0070045 Coffin-Siris syndrome 3 ISO RGD:1353725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 12419749 DERL3 derlin 3 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1353725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 12419749 DERL3 derlin 3 gene DOID:1826 epilepsy ISO RGD:1353725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12419749 DERL3 derlin 3 gene DOID:2129 atypical teratoid rhabdoid tumor ISO RGD:1353725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 PMID:28492532 12419749 DERL3 derlin 3 gene DOID:5419 schizophrenia ISO RGD:1353725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12419749 DERL3 derlin 3 gene DOID:630 genetic disease ISO RGD:1353725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419758 SNX16 sorting nexin 16 gene DOID:630 genetic disease ISO RGD:733907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419777 MARVELD2 MARVEL domain containing 2 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1345417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 12419777 MARVELD2 MARVEL domain containing 2 gene DOID:0110506 autosomal recessive nonsyndromic deafness 49 ISO RGD:1345417 D RGD:7240710 20180130 OMIM 12419777 MARVELD2 MARVEL domain containing 2 gene DOID:0110506 autosomal recessive nonsyndromic deafness 49 ISO RGD:1345417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 49 | ClinVar Annotator: match by term: Deafness, neurosensory, autosomal recessive 49 PMID:16199547|PMID:17186462|PMID:18084694|PMID:22097895|PMID:23767834|PMID:23979167|PMID:24033266|PMID:25652404|PMID:25666562|PMID:25741868|PMID:25788563|PMID:25885414|PMID:26467025|PMID:28492532|PMID:30311386|PMID:31850270|PMID:32747562|PMID:33597575 12419777 MARVELD2 MARVEL domain containing 2 gene DOID:630 genetic disease ISO RGD:1345417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 12419777 MARVELD2 MARVEL domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12419777 MARVELD2 MARVEL domain containing 2 gene DOID:9004538 Hearing Loss ISO RGD:1345417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:17186462|PMID:18084694|PMID:24033266|PMID:25741868|PMID:30311386 12419777 MARVELD2 MARVEL domain containing 2 gene DOID:9004538 Hearing Loss ISO RGD:1345417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:16199547|PMID:17186462|PMID:18084694|PMID:22097895|PMID:24033266|PMID:25666562|PMID:25741868|PMID:28492532|PMID:30311386 12419777 MARVELD2 MARVEL domain containing 2 gene DOID:9008681 Deafness ISO RGD:1345417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 12419801 PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1318621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12419801 PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1318621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12419801 PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:0110910 leukocyte adhesion deficiency 1 ISO RGD:1318621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lymphocyte function-associated antigen 1 immunodeficiency PMID:17878938|PMID:26639818 12419801 PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1318621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12419801 PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:2978 carbohydrate metabolic disorder ISO RGD:1318621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10818001|PMID:17878938 12419801 PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:3146 lipid metabolism disorder ISO RGD:1318621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17878938 12419801 PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1318621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cholestanol storage disease PMID:10775536|PMID:26937392|PMID:28492532|PMID:9392430 12419801 PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:630 genetic disease ISO RGD:1318621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419801 PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12419834 ATF6 activating transcription factor 6 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1313517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 12419834 ATF6 activating transcription factor 6 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1313517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12419834 ATF6 activating transcription factor 6 gene DOID:0110009 achromatopsia 7 ISO RGD:1313517 D RGD:7240710 20180130 OMIM 12419834 ATF6 activating transcription factor 6 gene DOID:0110009 achromatopsia 7 ISO RGD:1313517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Achromatopsia 7 PMID:24824130|PMID:25741868|PMID:26029869|PMID:26063662|PMID:26070061|PMID:28028229|PMID:28492532 12419834 ATF6 activating transcription factor 6 gene DOID:10320 asbestosis ISO RGD:1313517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25324550 12419834 ATF6 activating transcription factor 6 gene DOID:10584 retinitis pigmentosa ISO RGD:1313517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26029869 12419834 ATF6 activating transcription factor 6 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1313517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 12419834 ATF6 activating transcription factor 6 gene DOID:13399 color blindness ISO RGD:1313517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26029869 12419834 ATF6 activating transcription factor 6 gene DOID:13911 achromatopsia ISO RGD:1313517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:16199547|PMID:24033266|PMID:26029869|PMID:26063662|PMID:26070061|PMID:28041643|PMID:28492532 12419834 ATF6 activating transcription factor 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1313517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12419834 ATF6 activating transcription factor 6 gene DOID:4448 macular degeneration ISO RGD:1313517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:28041643 12419834 ATF6 activating transcription factor 6 gene DOID:5154 borna disease ISO RGD:1305471 D RGD:9068941 20200702 RGD protein:increased expression:cerebellum, hippocampus PMID:16912310|REF_RGD_ID:32733622 12419834 ATF6 activating transcription factor 6 gene DOID:5434 scrapie ISO RGD:1313517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 12419834 ATF6 activating transcription factor 6 gene DOID:630 genetic disease ISO RGD:1313517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12419834 ATF6 activating transcription factor 6 gene DOID:9003137 Photophobia ISO RGD:1313517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26029869 12419834 ATF6 activating transcription factor 6 gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:1313518 D RGD:9068941 20230302 RGD PMID:36044268|REF_RGD_ID:156430337 12419834 ATF6 activating transcription factor 6 gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:1305471 D RGD:9068941 20200709 RGD mRNA,protein:increased expression:chondrocyte PMID:31007149|REF_RGD_ID:34888237 12419834 ATF6 activating transcription factor 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12419834 ATF6 activating transcription factor 6 gene DOID:9649 congenital nystagmus ISO RGD:1313517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26029869 12419867 STC2 stanniocalcin 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1352877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097666 12419867 STC2 stanniocalcin 2 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1352877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 12419867 STC2 stanniocalcin 2 gene DOID:289 endometriosis ISO RGD:1352877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12419867 STC2 stanniocalcin 2 gene DOID:630 genetic disease ISO RGD:1352877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419867 STC2 stanniocalcin 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352877 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 12419867 STC2 stanniocalcin 2 gene DOID:9004009 Reperfusion Injury ISO RGD:621777 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:15485913|REF_RGD_ID:2324700 12419867 STC2 stanniocalcin 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:621777 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:18959458|REF_RGD_ID:2313895 12419867 STC2 stanniocalcin 2 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:1352877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 12419867 STC2 stanniocalcin 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1352877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18492817 12419875 NFRKB nuclear factor related to kappaB binding protein gene DOID:0111723 Jacobsen Syndrome ISO RGD:1321531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12419875 NFRKB nuclear factor related to kappaB binding protein gene DOID:5419 schizophrenia ISO RGD:1321531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12419875 NFRKB nuclear factor related to kappaB binding protein gene DOID:630 genetic disease ISO RGD:1321531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419875 NFRKB nuclear factor related to kappaB binding protein gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1321531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12419875 NFRKB nuclear factor related to kappaB binding protein gene DOID:9007661 Dwarfism ISO RGD:1321531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12419912 RNF43 ring finger protein 43 gene DOID:0050777 Joubert syndrome ISO RGD:1342772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12419912 RNF43 ring finger protein 43 gene DOID:0050869 villous adenoma ISO RGD:1342772 D RGD:9068941 20220303 RGD DNA:nonsense mutation:CDS:p.R113X (human) PMID:24512911|REF_RGD_ID:11552863 12419912 RNF43 ring finger protein 43 gene DOID:0070271 Lynch syndrome 1 ISO RGD:1342772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868 12419912 RNF43 ring finger protein 43 gene DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 ISO RGD:1342772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:25741868|PMID:28492532 12419912 RNF43 ring finger protein 43 gene DOID:0111096 Fanconi anemia complementation group O ISO RGD:1342772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group O PMID:28492532 12419912 RNF43 ring finger protein 43 gene DOID:10534 stomach cancer ISO RGD:69092 D RGD:9068941 20220311 RGD PMID:27006499|REF_RGD_ID:11354809 12419912 RNF43 ring finger protein 43 gene DOID:10534 stomach cancer disease_progression ISO RGD:1342772 D RGD:9068941 20220303 RGD mRNA:altered expression:stomach (human) PMID:27514024|REF_RGD_ID:151361220 12419912 RNF43 ring finger protein 43 gene DOID:1059 intellectual disability ISO RGD:1342772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12419912 RNF43 ring finger protein 43 gene DOID:1380 endometrial cancer ISO RGD:1342772 D RGD:9068941 20220303 RGD DNA:mutations:multiple: (human) PMID:25344691|REF_RGD_ID:151361224 12419912 RNF43 ring finger protein 43 gene DOID:218 ascending colon cancer exacerbates ISO RGD:1342772 D RGD:9068941 20220303 RGD DNA:nonsense mutation, frameshift mutations:CDS:multiple (human) PMID:32236609|REF_RGD_ID:151361217 12419912 RNF43 ring finger protein 43 gene DOID:219 colon cancer disease_progression ISO RGD:1342772 D RGD:9068941 20220224 RGD mRNA:increased expression:colon (human) PMID:26350900|REF_RGD_ID:11053240 12419912 RNF43 ring finger protein 43 gene DOID:3070 high grade glioma exacerbates ISO RGD:1342772 D RGD:9068941 20220224 RGD protein:decreased expression:brain, brainstem (human) PMID:25755738|REF_RGD_ID:151361124 12419912 RNF43 ring finger protein 43 gene DOID:3717 gastric adenocarcinoma severity ISO RGD:1342772 D RGD:9068941 20220303 RGD human cells in a mouse model PMID:30380024|REF_RGD_ID:151361216 12419912 RNF43 ring finger protein 43 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1342772 D RGD:9068941 20220303 RGD human cells in a mouse model PMID:31286874|REF_RGD_ID:151361222 12419912 RNF43 ring finger protein 43 gene DOID:4029 gastritis exacerbates ISO RGD:1332400 D RGD:9068941 20220224 RGD associated with Helicobacter Infections; DNA:missense mutations:CDS:p.H292R, p.H295R (mouse) PMID:30884828|REF_RGD_ID:151361146 12419912 RNF43 ring finger protein 43 gene DOID:4928 intrahepatic cholangiocarcinoma exacerbates ISO RGD:1342772 D RGD:9068941 20220224 RGD mRNA, protein:decreased expression:liver, bile duct epithelium (human) PMID:26980022|REF_RGD_ID:151361125 12419912 RNF43 ring finger protein 43 gene DOID:4947 cholangiocarcinoma ISO RGD:1342772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 12419912 RNF43 ring finger protein 43 gene DOID:4947 cholangiocarcinoma exacerbates ISO RGD:1342772 D RGD:9068941 20220303 RGD associated with opisthorchiasis;DNA:SNPs:multiple: (human) PMID:22561520|REF_RGD_ID:151361227 12419912 RNF43 ring finger protein 43 gene DOID:5517 stomach carcinoma ISO RGD:1342772 D RGD:9068941 20220311 RGD DNA:mutations:multiple: (human) PMID:24816253|REF_RGD_ID:151665118 12419912 RNF43 ring finger protein 43 gene DOID:5517 stomach carcinoma exacerbates ISO RGD:1342772 D RGD:9068941 20220303 RGD protein:decreased expression:stomach (human) PMID:26184844|REF_RGD_ID:11086719 12419912 RNF43 ring finger protein 43 gene DOID:630 genetic disease ISO RGD:1342772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12419912 RNF43 ring finger protein 43 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1342772 D RGD:9068941 20220303 RGD human cells in a mouse model PMID:23136185|REF_RGD_ID:151361219 12419912 RNF43 ring finger protein 43 gene DOID:9000027 Microsatellite Instability ISO RGD:1342772 D RGD:9068941 20220303 RGD associated with ascending colon cancer;DNA:nonsense mutation, frameshift mutations:CDS:multiple (human) PMID:32236609|REF_RGD_ID:151361217 12419912 RNF43 ring finger protein 43 gene DOID:9000027 Microsatellite Instability ISO RGD:1342772 D RGD:9068941 20220303 RGD associated with colorectal cancer, endometrial cancer;DNA:mutations:multiple (human) PMID:25344691|REF_RGD_ID:151361224 12419912 RNF43 ring finger protein 43 gene DOID:9000027 Microsatellite Instability ISO RGD:1342772 D RGD:9068941 20220303 RGD associated with colorectal cancer, stomach cancer;protein:decreased expression:cytoplasm (human) PMID:26297255|REF_RGD_ID:11056888 12419912 RNF43 ring finger protein 43 gene DOID:9000217 Stomach Neoplasms ISO RGD:1342772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24816253 12419912 RNF43 ring finger protein 43 gene DOID:9001231 Sessile Serrated Polyposis Cancer Syndrome ISO RGD:1342772 D RGD:7240710 20190315 OMIM 12419912 RNF43 ring finger protein 43 gene DOID:9001231 Sessile Serrated Polyposis Cancer Syndrome ISO RGD:1342772 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sessile serrated polyposis cancer syndrome PMID:22552244|PMID:24512911|PMID:25741868|PMID:26350900|PMID:27081527|PMID:28492532|PMID:29330307 12419912 RNF43 ring finger protein 43 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1342772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12419912 RNF43 ring finger protein 43 gene DOID:9003155 Parasitic Liver Diseases ISO RGD:1342772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 12419912 RNF43 ring finger protein 43 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1342772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 12419912 RNF43 ring finger protein 43 gene DOID:9006618 Liver Metastasis ISO RGD:1342772 D RGD:9068941 20220303 RGD associated with colorectal adenocarcinoma;mRNA:increased expression:liver (human) PMID:28789449|REF_RGD_ID:151361221 12419912 RNF43 ring finger protein 43 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1342772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25344691 12419912 RNF43 ring finger protein 43 gene DOID:9008330 Serrated Polyposis ISO RGD:1342772 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colon serrated polyposis PMID:22552244|PMID:27081527 12419912 RNF43 ring finger protein 43 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1342772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25344691 12419912 RNF43 ring finger protein 43 gene DOID:9256 colorectal cancer ISO RGD:1332400 D RGD:9068941 20220303 RGD protein:decreased expression:colorectum (mouse) PMID:29021137|REF_RGD_ID:151361223 12419912 RNF43 ring finger protein 43 gene DOID:9256 colorectal cancer ISO RGD:1342772 D RGD:9068941 20220303 RGD DNA:mutations:multiple: (human) PMID:25344691|REF_RGD_ID:151361224 12419912 RNF43 ring finger protein 43 gene DOID:9256 colorectal cancer ISO RGD:735645 D RGD:9068941 20220303 RGD mRNA, protein:decreased expression:colorectum (human) PMID:27661107|REF_RGD_ID:151361218 12419912 RNF43 ring finger protein 43 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1342772 D RGD:9068941 20220224 RGD DNA:silent mutation, missense mutation:exon 3:p.R117R, p.R117H (rs2257205) (human) PMID:31140864|REF_RGD_ID:151361145 12419912 RNF43 ring finger protein 43 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1342772 D RGD:9068941 20220303 RGD DNA:mutations:multiple (human) PMID:29756208|REF_RGD_ID:151361209 12419912 RNF43 ring finger protein 43 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1342772 D RGD:9068941 20220303 RGD DNA:mutations:multiple: (human) PMID:33230914|REF_RGD_ID:151361228 12419912 RNF43 ring finger protein 43 gene DOID:9256 colorectal cancer onset ISO RGD:1342772 D RGD:9068941 20220311 RGD associated with Neoplasm Metastasis;DNA:mutations:multiple (human) PMID:33194656|REF_RGD_ID:151356979 12419912 RNF43 ring finger protein 43 gene DOID:9256 colorectal cancer treatment ISO RGD:1342772 D RGD:9068941 20220311 RGD PMID:22202234|PMID:22977472|PMID:23267878|PMID:29473265|REF_RGD_ID:151665113|REF_RGD_ID:151665114|REF_RGD_ID:151665115|REF_RGD_ID:151665116 12419912 RNF43 ring finger protein 43 gene DOID:9778 irritable bowel syndrome exacerbates ISO RGD:1342772 D RGD:9068941 20220303 RGD associated with Colitis-Associated Neoplasms;DNA:mutations:multiple: (human) PMID:29416670|REF_RGD_ID:151361225 12419947 ORC5 origin recognition complex subunit 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12419947 ORC5 origin recognition complex subunit 5 gene DOID:630 genetic disease ISO RGD:1320971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419971 PNLIPRP3 pancreatic lipase related protein 3 gene DOID:630 genetic disease ISO RGD:1353570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12419990 TEX101 testis expressed 101 gene DOID:5419 schizophrenia ISO RGD:1354475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12419990 TEX101 testis expressed 101 gene DOID:630 genetic disease ISO RGD:1354475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420005 STPG3 sperm-tail PG-rich repeat containing 3 gene DOID:0050777 Joubert syndrome ISO RGD:1604889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12420005 STPG3 sperm-tail PG-rich repeat containing 3 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1604889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12420005 STPG3 sperm-tail PG-rich repeat containing 3 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1604889 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12420005 STPG3 sperm-tail PG-rich repeat containing 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1604889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12420005 STPG3 sperm-tail PG-rich repeat containing 3 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1604889 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12420005 STPG3 sperm-tail PG-rich repeat containing 3 gene DOID:0081097 Rafiq syndrome ISO RGD:1604889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12420005 STPG3 sperm-tail PG-rich repeat containing 3 gene DOID:1826 epilepsy ISO RGD:1604889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12420005 STPG3 sperm-tail PG-rich repeat containing 3 gene DOID:630 genetic disease ISO RGD:1604889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420005 STPG3 sperm-tail PG-rich repeat containing 3 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1604889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12420021 LOC100684060 olfactory receptor 51B4 gene DOID:630 genetic disease ISO RGD:1344392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420024 KRT19 keratin 19 gene DOID:2841 asthma ISO RGD:733914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15478392 12420024 KRT19 keratin 19 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:733914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 12420024 KRT19 keratin 19 gene DOID:417 autoimmune disease ISO RGD:733914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 12420024 KRT19 keratin 19 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer PMID:25741868 12420024 KRT19 keratin 19 gene DOID:630 genetic disease ISO RGD:733914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420024 KRT19 keratin 19 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12420024 KRT19 keratin 19 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:733914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 12420024 KRT19 keratin 19 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:733914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 12420024 KRT19 keratin 19 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 12420024 KRT19 keratin 19 gene DOID:9008510 Chronic Hepatitis ISO RGD:733914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 12420024 KRT19 keratin 19 gene DOID:9446 cholangitis ISO RGD:733914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 12420041 BRI3BP BRI3 binding protein gene DOID:630 genetic disease ISO RGD:1348808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420047 MANSC1 MANSC domain containing 1 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1353615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12420047 MANSC1 MANSC domain containing 1 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1353615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12420047 MANSC1 MANSC domain containing 1 gene DOID:630 genetic disease ISO RGD:1353615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420113 PM20D1 peptidase M20 domain containing 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1602433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12420113 PM20D1 peptidase M20 domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1602433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12420113 PM20D1 peptidase M20 domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12420113 PM20D1 peptidase M20 domain containing 1 gene DOID:630 genetic disease ISO RGD:1602433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420113 PM20D1 peptidase M20 domain containing 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1602433 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12420113 PM20D1 peptidase M20 domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12420146 IL15 interleukin 15 gene DOID:0060496 respiratory allergy ISO RGD:737535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18394133 12420146 IL15 interleukin 15 gene DOID:10247 pleurisy ISO RGD:737535 D RGD:9068941 20200609 RGD PMID:10823416|REF_RGD_ID:4990464 12420146 IL15 interleukin 15 gene DOID:10533 viral pneumonia ISO RGD:10786 D RGD:9068941 20200609 RGD PMID:20335267|REF_RGD_ID:4892670 12420146 IL15 interleukin 15 gene DOID:10608 celiac disease ISO RGD:737535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23269601 12420146 IL15 interleukin 15 gene DOID:11162 respiratory failure ISO RGD:737535 D RGD:9068941 20200609 RGD associated with Influenza PMID:20003352|REF_RGD_ID:4888530 12420146 IL15 interleukin 15 gene DOID:11394 adult respiratory distress syndrome ISO RGD:737535 D RGD:9068941 20200609 RGD associated with Influenza;protein:increased expression:serum PMID:21062445|REF_RGD_ID:5128683 12420146 IL15 interleukin 15 gene DOID:11573 listeriosis ISO RGD:2887 D RGD:9068941 20200609 RGD protein:increased expression:epithelial cell, intestine PMID:9826341|REF_RGD_ID:1626618 12420146 IL15 interleukin 15 gene DOID:11716 prediabetes syndrome ISO RGD:10786 D RGD:9068941 20200609 RGD PMID:11832994|REF_RGD_ID:2313578 12420146 IL15 interleukin 15 gene DOID:12849 autistic disorder ISO RGD:737535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18929414 12420146 IL15 interleukin 15 gene DOID:13406 pulmonary sarcoidosis ISO RGD:737535 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:11742275|REF_RGD_ID:4990461 12420146 IL15 interleukin 15 gene DOID:13564 aspergillosis ISO RGD:737535 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:16893395|REF_RGD_ID:4981337 12420146 IL15 interleukin 15 gene DOID:178 vascular disease ISO RGD:10786 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:carotid artery PMID:16321364|REF_RGD_ID:1626609 12420146 IL15 interleukin 15 gene DOID:2349 arteriosclerosis ISO RGD:10786 D RGD:9068941 20200609 RGD mRNA:increased expression:macrophage, aorta PMID:11485899|REF_RGD_ID:1626612 12420146 IL15 interleukin 15 gene DOID:2349 arteriosclerosis ISO RGD:737535 D RGD:9068941 20200609 RGD mRNA:increased expression:carotid PMID:11485899|REF_RGD_ID:1626612 12420146 IL15 interleukin 15 gene DOID:2841 asthma ISO RGD:10786 D RGD:9068941 20200609 RGD PMID:11160248|PMID:15843549|REF_RGD_ID:4990462|REF_RGD_ID:5000757 12420146 IL15 interleukin 15 gene DOID:2841 asthma ISO RGD:737535 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:15131572|PMID:16629787|REF_RGD_ID:4984421|REF_RGD_ID:5000758 12420146 IL15 interleukin 15 gene DOID:2841 asthma no_association ISO RGD:737535 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:19133918|REF_RGD_ID:5000760 12420146 IL15 interleukin 15 gene DOID:289 endometriosis ISO RGD:737535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12420146 IL15 interleukin 15 gene DOID:2957 pulmonary tuberculosis ISO RGD:737535 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:11742275|REF_RGD_ID:4990461 12420146 IL15 interleukin 15 gene DOID:3388 periodontal disease ISO RGD:2887 D RGD:9068941 20200609 RGD mRNA:decreased expression:B cell PMID:20618701|REF_RGD_ID:5024938 12420146 IL15 interleukin 15 gene DOID:3393 coronary artery disease ISO RGD:737535 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:serum PMID:16109314|REF_RGD_ID:1626610 12420146 IL15 interleukin 15 gene DOID:3454 brain infarction ISO RGD:737535 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:serum PMID:16109314|REF_RGD_ID:1626610 12420146 IL15 interleukin 15 gene DOID:3770 pulmonary fibrosis ISO RGD:737535 D RGD:9068941 20200609 RGD PMID:21309737|REF_RGD_ID:5147438 12420146 IL15 interleukin 15 gene DOID:399 tuberculosis ISO RGD:10786 D RGD:9068941 20200609 RGD mRNA:altered expression:lung, spleen PMID:16367949|REF_RGD_ID:4987456 12420146 IL15 interleukin 15 gene DOID:4483 rhinitis ISO RGD:10786 D RGD:9068941 20200609 RGD PMID:16750998|REF_RGD_ID:5000756 12420146 IL15 interleukin 15 gene DOID:4989 pancreatitis ISO RGD:2887 D RGD:9068941 20200609 RGD PMID:20332642|REF_RGD_ID:4892671 12420146 IL15 interleukin 15 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737535 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:20028198|REF_RGD_ID:4892672 12420146 IL15 interleukin 15 gene DOID:630 genetic disease ISO RGD:737535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420146 IL15 interleukin 15 gene DOID:850 lung disease ISO RGD:737535 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;protein:increased expression:serum PMID:17784951|REF_RGD_ID:4974390 12420146 IL15 interleukin 15 gene DOID:874 bacterial pneumonia ISO RGD:10786 D RGD:9068941 20200609 RGD PMID:17911627|REF_RGD_ID:5000754 12420146 IL15 interleukin 15 gene DOID:9000386 Polyomavirus Infections ISO RGD:737535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 12420146 IL15 interleukin 15 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:737535 D RGD:9068941 20200609 RGD PMID:18394133|REF_RGD_ID:4943853 12420146 IL15 interleukin 15 gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:10786 D RGD:9068941 20200609 RGD PMID:18390740|REF_RGD_ID:4996474 12420146 IL15 interleukin 15 gene DOID:9001488 Human Influenza ISO RGD:10786 D RGD:9068941 20200609 RGD PMID:21098221|REF_RGD_ID:4994196 12420146 IL15 interleukin 15 gene DOID:9001488 Human Influenza ISO RGD:10786 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:20212069|REF_RGD_ID:4996471 12420146 IL15 interleukin 15 gene DOID:9001488 Human Influenza ISO RGD:737535 D RGD:9068941 20200609 RGD PMID:19234203|REF_RGD_ID:4996472 12420146 IL15 interleukin 15 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10786 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage, bronchial epithelial cell PMID:17611121|REF_RGD_ID:5000755 12420146 IL15 interleukin 15 gene DOID:9002457 Experimental Arthritis ISO RGD:737535 D RGD:9068941 20200609 RGD PMID:20188418|REF_RGD_ID:5000761 12420146 IL15 interleukin 15 gene DOID:9004283 Transplant Rejection ISO RGD:2887 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:17532783|REF_RGD_ID:10402939 12420146 IL15 interleukin 15 gene DOID:9005372 Inflammation ISO RGD:2887 D RGD:9068941 20200609 RGD PMID:12572774|REF_RGD_ID:1626616 12420146 IL15 interleukin 15 gene DOID:9005883 Pleural Effusion ISO RGD:737535 D RGD:9068941 20200609 RGD PMID:15072171|REF_RGD_ID:4990458 12420146 IL15 interleukin 15 gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:737535 D RGD:9068941 20201218 RGD mRNA,protein:increased expression:peripheral blood mononuclear cell,serum,dendritic cell (human) PMID:26541527|REF_RGD_ID:40902860 12420146 IL15 interleukin 15 gene DOID:9007651 Chronic Bronchitis ISO RGD:737535 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:11742275|REF_RGD_ID:4990461 12420146 IL15 interleukin 15 gene DOID:9008212 Diabetic Foot ISO RGD:737535 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:dermis, endothelial cell PMID:17014667|REF_RGD_ID:2313575 12420146 IL15 interleukin 15 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:2887 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:11585642|REF_RGD_ID:1626617 12420146 IL15 interleukin 15 gene DOID:934 viral infectious disease ISO RGD:737535 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive PMID:21235417|REF_RGD_ID:4892668 12420146 IL15 interleukin 15 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737535 D RGD:9068941 20200609 RGD PMID:17670937|REF_RGD_ID:2313574 12420146 IL15 interleukin 15 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737535 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16098919|REF_RGD_ID:2313577 12420146 IL15 interleukin 15 gene DOID:9970 obesity ISO RGD:737535 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:skeletal muscle, plasma PMID:18697873|REF_RGD_ID:2313573 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0050589 inflammatory bowel disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:18849144|REF_RGD_ID:5686819 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0050700 cardiomyopathy ISO RGD:1552054 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:23723143|REF_RGD_ID:8695930 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0050700 cardiomyopathy disease_progression ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with inflammation; mRNA, protein:increased expression:heart, plasma PMID:21278397|REF_RGD_ID:5686895 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0050700 cardiomyopathy treatment ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:23723143|REF_RGD_ID:8695930 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0050830 peripheral artery disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16321391|REF_RGD_ID:5686716 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0050847 sleep apnea ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:19913847|REF_RGD_ID:5686853 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:23181352|REF_RGD_ID:8694469 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0060180 colitis ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:21479819|REF_RGD_ID:5686898 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0060180 colitis ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:17604368|REF_RGD_ID:5686754 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0060575 3MC syndrome 1 ISO RGD:1351472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20415685 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:15239085|REF_RGD_ID:5686660 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1552054 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:19606393|REF_RGD_ID:5686841 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:628748 D RGD:9068941 20200609 RGD associated with obesity;protein:decreased expression:serum: PMID:21255792|REF_RGD_ID:5686355 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:628748 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:22152320|REF_RGD_ID:5685373 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0080208 non-alcoholic fatty liver disease disease_progression ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Obesity, Morbid; PMID:18713296|REF_RGD_ID:5686810 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:1351472 D RGD:9068941 20200609 RGD DNA:SNPs:5'utr, :-11377C>G, +45T>G (rs266729, rs2241766) (human) PMID:22269154|REF_RGD_ID:14401719 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus;DNA:SNP:5' utr:-11377C>G (rs266729) (human) PMID:26042596|REF_RGD_ID:11076260 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:1351472 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:27860427|REF_RGD_ID:14401717 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:0081267 graft-versus-host disease severity ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21258011|REF_RGD_ID:5686893 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:10140 dry eye syndrome treatment ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:23211823|REF_RGD_ID:8694422 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:10652 Alzheimer's disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid, plasma PMID:20727007|REF_RGD_ID:5686881 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:10652 Alzheimer's disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22213409|REF_RGD_ID:5686377 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1070 primary open angle glaucoma ISO RGD:1351472 D RGD:9068941 20200609 RGD DNA:SNP: :rs2241766 (human) PMID:22553514|REF_RGD_ID:8547563 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:10763 hypertension ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12860835 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:11396 pulmonary edema ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25945502 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:11612 polycystic ovary syndrome ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:16868149|REF_RGD_ID:8694433 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1168 familial hyperlipidemia treatment ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:24308182|REF_RGD_ID:8695929 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:11714 gestational diabetes ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15126557 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:11714 gestational diabetes ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19626510|REF_RGD_ID:2313236 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:11714 gestational diabetes treatment ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:23608331|REF_RGD_ID:8695950 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:11832 visual epilepsy ISO RGD:1552054 D RGD:9068941 20200609 RGD associated with metabolic syndrome X; PMID:21976521|REF_RGD_ID:5686407 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1206 Rett syndrome ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:18710461|REF_RGD_ID:5686812 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:12361 Graves' disease ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with thyroid diseases; protein:increased expression:serum PMID:20583542|REF_RGD_ID:5686857 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:12361 Graves' disease severity ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18997483|REF_RGD_ID:5686818 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:12858 Huntington's disease ISO RGD:1552054 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19124532|REF_RGD_ID:5686822 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1287 cardiovascular system disease ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:17893004|REF_RGD_ID:5686800 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1287 cardiovascular system disease ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNPs: :-11365C>G, 276G>T (human) PMID:16644713|REF_RGD_ID:5686750 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1287 cardiovascular system disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16822679|REF_RGD_ID:5686752 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1287 cardiovascular system disease disease_progression ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:22207678|REF_RGD_ID:5686379 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1307 dementia ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22213409|REF_RGD_ID:5686377 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:13207 proliferative diabetic retinopathy ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:aqueous humor PMID:22563689|REF_RGD_ID:8694466 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:13241 Behcet's disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21044750|REF_RGD_ID:8694430 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:13378 Kawasaki disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16982510|REF_RGD_ID:5686751 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:13608 biliary atresia ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21356120|REF_RGD_ID:5686894 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1580 diffuse scleroderma severity ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21615510|REF_RGD_ID:8694418 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1612 breast cancer ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:17192291|REF_RGD_ID:8694447 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1612 breast cancer ISO RGD:1351472 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1501299, rs2241766 (human) PMID:18451143|REF_RGD_ID:8694415 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1612 breast cancer ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:16019138|REF_RGD_ID:8694425 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1612 breast cancer no_association ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:19723917|REF_RGD_ID:8694417 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:178 vascular disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17893004|REF_RGD_ID:5686800 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1936 atherosclerosis ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18931039 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:1936 atherosclerosis treatment ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:12451000|REF_RGD_ID:8694473 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:2018 hyperinsulinism ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:16414018|REF_RGD_ID:1599145 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:2048 autoimmune hepatitis ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19301087|REF_RGD_ID:5686833 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:2377 multiple sclerosis ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20714168|REF_RGD_ID:5686885 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:2526 prostate adenocarcinoma susceptibility ISO RGD:1351472 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:5' utr, introns, exon:multiple PMID:21397927|REF_RGD_ID:8694410 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:2755 Mycobacterium avium complex disease ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with pulmonary diseases; protein:increased expression:serum PMID:19641295|REF_RGD_ID:5686838 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:2841 asthma ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:19168697|REF_RGD_ID:5686821 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:2957 pulmonary tuberculosis ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22022605|REF_RGD_ID:5686405 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:2987 familial Mediterranean fever ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20518740|REF_RGD_ID:5686880 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X;protein:decreased expression:serum PMID:21179920|REF_RGD_ID:5686825 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:22207678|REF_RGD_ID:5686379 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:3312 bipolar disorder ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22137759|REF_RGD_ID:5686381 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:3362 coronary aneurysm ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome;protein:increased expression:serum PMID:22683371|REF_RGD_ID:8694456 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:3393 coronary artery disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:adipose tissue PMID:17878891|REF_RGD_ID:5686802 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:3454 brain infarction ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:19362080|REF_RGD_ID:5686830 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:3770 pulmonary fibrosis ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25945502 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:4195 hyperglycemia ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29991592 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:4247 coronary restenosis ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12138120 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:4450 renal cell carcinoma ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29723618 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:5082 liver cirrhosis severity ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16115302|REF_RGD_ID:5686674 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:5844 myocardial infarction disease_progression ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:21326342|REF_RGD_ID:5686351 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:6000 congestive heart failure ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19367012|PMID:26670611 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:6000 congestive heart failure ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with cardiovascular disease; protein:increased expression:plasma PMID:22032915|REF_RGD_ID:5686388 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:6000 congestive heart failure ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18192035|REF_RGD_ID:5686806 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:630 genetic disease ISO RGD:1351472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:6432 pulmonary hypertension ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:19168697|REF_RGD_ID:5686821 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1351472 D RGD:9068941 20200609 RGD DNA:SNP:intron:+276T>G (rs1501299) (human) PMID:23740135|REF_RGD_ID:14401720 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:7147 ankylosing spondylitis ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21122270|REF_RGD_ID:5686891 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:7148 rheumatoid arthritis ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:7148 rheumatoid arthritis ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21789720|REF_RGD_ID:5686424 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:783 end stage renal disease ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19539174 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:783 end stage renal disease ISO RGD:628748 D RGD:9068941 20200609 RGD protein:increased expression:serum, urine PMID:24028144|REF_RGD_ID:8695941 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:7998 hyperthyroidism ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:17161219|REF_RGD_ID:1599133 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:820 myocarditis ISO RGD:1552054 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart, plasma PMID:21278397|REF_RGD_ID:5686895 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:8577 ulcerative colitis ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16432373|REF_RGD_ID:5686726 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:8778 Crohn's disease ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21829567 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:8778 Crohn's disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16432373|REF_RGD_ID:5686726 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:8947 diabetic retinopathy ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :g.45T>G (human) PMID:24655058|REF_RGD_ID:8694412 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:8947 diabetic retinopathy disease_progression ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum PMID:17970779|REF_RGD_ID:8694475 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9000039 Spinal Cord Injuries ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16213239|REF_RGD_ID:5686719 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:22230897|REF_RGD_ID:8695949 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9000528 Coronary Disease ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Diabetes mellitus, Type2; PMID:22019747|REF_RGD_ID:5686406 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9000528 Coronary Disease disease_progression ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:22207678|REF_RGD_ID:5686379 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9001044 Choroidal Neovascularization ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:16689928|REF_RGD_ID:2289282 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:17466298|REF_RGD_ID:8694464 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:22633972|REF_RGD_ID:8695931 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14724832 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9001981 Weight Loss ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18230824 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:23762489|REF_RGD_ID:8695935 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17942768 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs2241766 (human) PMID:23260797|REF_RGD_ID:8694443 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21945031|REF_RGD_ID:5686409 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum PMID:17970779|REF_RGD_ID:8694475 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs1501299 (human) PMID:23260797|REF_RGD_ID:8694443 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:23533720|REF_RGD_ID:8695947 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:23674516|REF_RGD_ID:8695925 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9002457 Experimental Arthritis ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326410 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9002457 Experimental Arthritis ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:19026984|REF_RGD_ID:5686814 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9002457 Experimental Arthritis ISO RGD:628748 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21681567|REF_RGD_ID:5685385 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9002775 Cognitive Dysfunction ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid, plasma PMID:20727007|REF_RGD_ID:5686881 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:19342600|REF_RGD_ID:7394795 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19725899|REF_RGD_ID:5686851 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9004009 Reperfusion Injury ISO RGD:628748 D RGD:9068941 20200609 RGD associated with Non-alcoholic Fatty Liver Disease; PMID:18098300|REF_RGD_ID:5686804 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9004017 Chronic Hepatitis C ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:26293833|REF_RGD_ID:14401718 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9004484 Sepsis ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:19481767|REF_RGD_ID:5686835 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9004484 Sepsis ISO RGD:1552054 D RGD:9068941 20200609 RGD mRNA, protein:decreasedexpression:serum, omental fat pad: PMID:21962804|REF_RGD_ID:5686408 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9004484 Sepsis ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:16488436|REF_RGD_ID:1599144 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9004610 Acute Lung Injury ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:22156343|REF_RGD_ID:5686380 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1552054 D RGD:9068941 20200609 RGD associated with Sepsis PMID:23522481|REF_RGD_ID:8695940 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with hypertension, overweight;protein:decreased expression:serum PMID:22053557|REF_RGD_ID:5686385 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9004657 Weight Gain ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12860835 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9004898 Jaundice ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Biliary Atresia; protein:increased expression:serum PMID:21356120|REF_RGD_ID:5686894 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:19447866|REF_RGD_ID:8694414 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:22246620|REF_RGD_ID:8694468 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9005372 Inflammation ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12860835 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1552054 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:23174569|REF_RGD_ID:8694416 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628748 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:adipose tissue, serum PMID:16201273|REF_RGD_ID:1599146 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9005930 Endotoxemia ISO RGD:628748 D RGD:9068941 20200609 RGD associated with Obesity PMID:23838384|REF_RGD_ID:8695926 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9006191 Hypoadiponectinemia ISO RGD:1351472 D RGD:7240710 20180130 OMIM 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9006191 Hypoadiponectinemia ISO RGD:1351472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 | ClinVar Annotator: match by term: Hypoadiponectinemia PMID:10918532|PMID:12878598 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9006218 Masked Hypertension ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19222669|REF_RGD_ID:5686820 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:21412771|REF_RGD_ID:8695946 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9006599 Hypertriglyceridemia ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with HIV Infections PMID:21595566|REF_RGD_ID:8694463 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9006646 Metabolic Syndrome ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16793964|PMID:17618945|PMID:18162013|PMID:20833989 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9006646 Metabolic Syndrome ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP: :276G>T (human) PMID:19690575|REF_RGD_ID:2313234 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9006646 Metabolic Syndrome ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with vascular diseases; protein:decreased expression:plasma PMID:17893004|REF_RGD_ID:5686800 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9006646 Metabolic Syndrome ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21625822|REF_RGD_ID:5686428 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9006646 Metabolic Syndrome ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:21976521|REF_RGD_ID:5686407 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16115302|REF_RGD_ID:5686674 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:628748 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type2;mRNA, protein:decreased expression:heart, serum PMID:24669271|REF_RGD_ID:8695938 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9007096 Stroke ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:20047566|REF_RGD_ID:5686856 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9007096 Stroke ISO RGD:1552054 D RGD:9068941 20200609 RGD protein:increased expression:plasma,brain PMID:19699724|REF_RGD_ID:5686837 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9007102 Myocardial Ischemia ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16155579 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9007329 Human Viral Hepatitis ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16115302|REF_RGD_ID:5686674 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20709802 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9007692 Insulin Resistance ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18931039|PMID:21484566 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9007692 Insulin Resistance ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:16041833|REF_RGD_ID:1599150 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9007692 Insulin Resistance treatment ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:21872431|REF_RGD_ID:8695928 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9007692 Insulin Resistance treatment ISO RGD:628748 D RGD:9068941 20200609 RGD associated with Hypertension PMID:23089228|REF_RGD_ID:8695951 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16155579 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9008212 Diabetic Foot ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:20836881|REF_RGD_ID:5686889 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9008856 HIV-Associated Lipodystrophy Syndrome ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:12876073|REF_RGD_ID:8694470 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9009039 Hyperemia ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12860835 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9074 systemic lupus erythematosus ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:19109165|REF_RGD_ID:5686827 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9120 amyloidosis ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Periodic fever, familial, autosomal dominant;protein:increased expression:serum PMID:22935190|REF_RGD_ID:8694455 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9351 diabetes mellitus ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12860835 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12114044|PMID:12354786|PMID:15734870 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:19622782|PMID:28843383|REF_RGD_ID:14975146|REF_RGD_ID:2313238 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351472 D RGD:9068941 20200609 RGD DNA:SNP: :g.45T>G (human) PMID:24655058|REF_RGD_ID:8694412 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with myocardial infarction;protein:decreased expression: : PMID:18472407|REF_RGD_ID:5686807 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16822679|REF_RGD_ID:5686752 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:19708766|REF_RGD_ID:2313230 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:628748 D RGD:9068941 20200609 RGD protein:decreased expression:plasma, myocardium: PMID:21155820|REF_RGD_ID:5686359 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9452 fatty liver disease ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with hepatitis C;protein:increased expression:serum PMID:20714777|REF_RGD_ID:5686883 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9452 fatty liver disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16115302|REF_RGD_ID:5686674 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9452 fatty liver disease ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:17006986|REF_RGD_ID:1599139 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9675 pulmonary emphysema ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:20935231|REF_RGD_ID:5686887 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9744 type 1 diabetes mellitus ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:19640330|REF_RGD_ID:2313235 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9970 obesity ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11549668 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9970 obesity ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10092513|PMID:14617771 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9970 obesity ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:19606374|PMID:28843383|REF_RGD_ID:14975146|REF_RGD_ID:2313239 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9970 obesity ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive; protein:decreased expression:plasma PMID:18303100|REF_RGD_ID:5686809 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9970 obesity ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with myocardial infarction; protein:decreased expression:plasma PMID:18651432|REF_RGD_ID:5686813 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9970 obesity ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:16092047|REF_RGD_ID:1599149 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9970 obesity treatment ISO RGD:628748 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:23731386|REF_RGD_ID:8695927 12420162 ADIPOQ adiponectin, C1Q and collagen domain containing gene DOID:9976 heroin dependence ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15717844 12420176 RAC1 Rac family small GTPase 1 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1605432 D RGD:9068941 20220922 RGD mRNA, protein:increased expression:colorectum (human) PMID:30926638|REF_RGD_ID:155230818 12420176 RAC1 Rac family small GTPase 1 gene DOID:0050912 colon adenoma ISO RGD:1605432 D RGD:9068941 20200609 RGD PMID:12865273|REF_RGD_ID:13432048 12420176 RAC1 Rac family small GTPase 1 gene DOID:0080199 colorectal carcinoma ameliorates ISO RGD:1605432 D RGD:9068941 20220908 RGD human cell line in a mouse model PMID:23559092|REF_RGD_ID:153350124 12420176 RAC1 Rac family small GTPase 1 gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:1605432 D RGD:9068941 20220804 RGD protein:increased expression:colorectum (human) PMID:30064309|REF_RGD_ID:153298972 12420176 RAC1 Rac family small GTPase 1 gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:1605432 D RGD:9068941 20220909 RGD protein:increased activity:colorectal mucosa (human) PMID:25529012|REF_RGD_ID:153350139 12420176 RAC1 Rac family small GTPase 1 gene DOID:0080235 autosomal dominant intellectual developmental disorder 48 ISO RGD:1605432 D RGD:7240710 20190315 OMIM 12420176 RAC1 Rac family small GTPase 1 gene DOID:0080235 autosomal dominant intellectual developmental disorder 48 ISO RGD:1605432 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 PMID:25741868|PMID:25741888|PMID:28492532|PMID:28886345|PMID:30042656|PMID:32860008|PMID:35139179 12420176 RAC1 Rac family small GTPase 1 gene DOID:10534 stomach cancer exacerbates ISO RGD:1605432 D RGD:9068941 20220908 RGD protein:increased expression:mucosa of stomach (human) PMID:23298303|REF_RGD_ID:153350128 12420176 RAC1 Rac family small GTPase 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1605432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16155095 12420176 RAC1 Rac family small GTPase 1 gene DOID:1324 lung cancer treatment ISO RGD:1605432 D RGD:9068941 20220922 RGD DNA:SNPs:enhancers, intron: (rs836554, rs4720672, rs12536544) (human) PMID:27299748|REF_RGD_ID:155230814 12420176 RAC1 Rac family small GTPase 1 gene DOID:1612 breast cancer ISO RGD:1605432 D RGD:9068941 20220922 RGD protein:increased expression:breast (human) PMID:22345078|REF_RGD_ID:155230815 12420176 RAC1 Rac family small GTPase 1 gene DOID:1612 breast cancer exacerbates ISO RGD:1605432 D RGD:9068941 20220818 RGD protein:increased expression:breast (human) PMID:25557791|REF_RGD_ID:153323321 12420176 RAC1 Rac family small GTPase 1 gene DOID:1909 melanoma ISO RGD:1605432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:25056119|PMID:26619011 12420176 RAC1 Rac family small GTPase 1 gene DOID:234 colon adenocarcinoma ISO RGD:1605432 D RGD:9068941 20200609 RGD mRNA:alternative form PMID:10597294|REF_RGD_ID:13432049 12420176 RAC1 Rac family small GTPase 1 gene DOID:234 colon adenocarcinoma treatment ISO RGD:1605432 D RGD:9068941 20200609 RGD PMID:19561401|REF_RGD_ID:13432051 12420176 RAC1 Rac family small GTPase 1 gene DOID:3495 extrahepatic bile duct adenocarcinoma ISO RGD:1605432 D RGD:9068941 20220908 RGD protein:increased expression:mucosa (human) PMID:21537609|REF_RGD_ID:153350126 12420176 RAC1 Rac family small GTPase 1 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:1553531 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas (mouse) PMID:21684285|REF_RGD_ID:14392816 12420176 RAC1 Rac family small GTPase 1 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:1605432 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (human) PMID:23334332|REF_RGD_ID:14392806 12420176 RAC1 Rac family small GTPase 1 gene DOID:363 uterine cancer ISO RGD:1605432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:25056119|PMID:26619011 12420176 RAC1 Rac family small GTPase 1 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:1605432 D RGD:9068941 20220811 RGD protein:increased expression:stomach (human) PMID:23485997|REF_RGD_ID:153300951 12420176 RAC1 Rac family small GTPase 1 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1316840 D RGD:9068941 20220908 RGD PMID:32366477|REF_RGD_ID:153345550 12420176 RAC1 Rac family small GTPase 1 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1605432 D RGD:9068941 20220707 RGD mRNA:increased expression:lung (human) PMID:31779616|REF_RGD_ID:152998910 12420176 RAC1 Rac family small GTPase 1 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:1605432 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:21037555|REF_RGD_ID:14392805 12420176 RAC1 Rac family small GTPase 1 gene DOID:409 liver disease ISO RGD:1605432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17058265 12420176 RAC1 Rac family small GTPase 1 gene DOID:4948 gallbladder carcinoma exacerbates ISO RGD:1605432 D RGD:9068941 20220922 RGD protein:increased expression:gallbladder (human) PMID:21853342|REF_RGD_ID:155230819 12420176 RAC1 Rac family small GTPase 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1605432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma PMID:25056119|PMID:26619011 12420176 RAC1 Rac family small GTPase 1 gene DOID:6000 congestive heart failure ISO RGD:1605432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16155095 12420176 RAC1 Rac family small GTPase 1 gene DOID:6000 congestive heart failure ISO RGD:619755 D RGD:9068941 20200609 RGD PMID:12642504|REF_RGD_ID:1581295 12420176 RAC1 Rac family small GTPase 1 gene DOID:630 genetic disease ISO RGD:1605432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420176 RAC1 Rac family small GTPase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1605432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18506888 12420176 RAC1 Rac family small GTPase 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1605432 D RGD:9068941 20220804 RGD mRNA:increased expression:liver (human) PMID:33482578|REF_RGD_ID:153298967 12420176 RAC1 Rac family small GTPase 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1605432 D RGD:9068941 20220908 RGD protein:increased expression:liver (human) PMID:20522449|REF_RGD_ID:153350129 12420176 RAC1 Rac family small GTPase 1 gene DOID:8923 skin melanoma ISO RGD:1605432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:25056119|PMID:26619011 12420176 RAC1 Rac family small GTPase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1605432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18506888 12420176 RAC1 Rac family small GTPase 1 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1605432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28710503 12420176 RAC1 Rac family small GTPase 1 gene DOID:9002371 Cardiotoxicity ISO RGD:1605432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28710503 12420176 RAC1 Rac family small GTPase 1 gene DOID:9003936 Cardiomegaly ISO RGD:1553531 D RGD:9068941 20200609 RGD PMID:16651530|PMID:16698001|REF_RGD_ID:1581293|REF_RGD_ID:1581294 12420176 RAC1 Rac family small GTPase 1 gene DOID:9004484 Sepsis ISO RGD:1605432 D RGD:9068941 20220707 RGD mRNA:increased expression:blood serum (human) PMID:33174038|REF_RGD_ID:152998912 12420176 RAC1 Rac family small GTPase 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:619755 D RGD:9068941 20200609 RGD PMID:12642504|REF_RGD_ID:1581295 12420176 RAC1 Rac family small GTPase 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1605432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 12420176 RAC1 Rac family small GTPase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1605432 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741888|PMID:28886345 12420176 RAC1 Rac family small GTPase 1 gene DOID:9008582 Developmental Disease ISO RGD:1605432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12420176 RAC1 Rac family small GTPase 1 gene DOID:9009097 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies ISO RGD:1605432 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PMID:25741868|PMID:28886345 12420176 RAC1 Rac family small GTPase 1 gene DOID:9256 colorectal cancer ISO RGD:1605432 D RGD:9068941 20200609 RGD PMID:17597401|REF_RGD_ID:13432052 12420176 RAC1 Rac family small GTPase 1 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1605432 D RGD:9068941 20220707 RGD human cell line in a mouse model PMID:29884911|REF_RGD_ID:152998911 12420176 RAC1 Rac family small GTPase 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1605432 D RGD:9068941 20200609 RGD mRNA:alternative form PMID:24833563|REF_RGD_ID:13432050 12420176 RAC1 Rac family small GTPase 1 gene DOID:9261 nasopharynx carcinoma exacerbates ISO RGD:1605432 D RGD:9068941 20220908 RGD protein:increased expression:nasopharynx (human) PMID:19506399|REF_RGD_ID:153350125 12420176 RAC1 Rac family small GTPase 1 gene DOID:9351 diabetes mellitus ISO RGD:1605432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23723366 12420191 AIF1 allograft inflammatory factor 1 gene DOID:0050553 JMP syndrome ISO RGD:735562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12420191 AIF1 allograft inflammatory factor 1 gene DOID:10554 meningoencephalitis ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:16150122|REF_RGD_ID:2313041 12420191 AIF1 allograft inflammatory factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:62217 D RGD:9068941 20200609 RGD protein:altered expression:hippocampus (mouse) PMID:19084047|REF_RGD_ID:2313023 12420191 AIF1 allograft inflammatory factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:735562 D RGD:9068941 20200609 RGD mRNA:increased expression:frontal cortex (human) PMID:16340083|REF_RGD_ID:2313045 12420191 AIF1 allograft inflammatory factor 1 gene DOID:10763 hypertension ISO RGD:735562 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32147540 12420191 AIF1 allograft inflammatory factor 1 gene DOID:10825 essential hypertension ISO RGD:735562 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 12420191 AIF1 allograft inflammatory factor 1 gene DOID:11372 megacolon ISO RGD:735562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12420191 AIF1 allograft inflammatory factor 1 gene DOID:11832 visual epilepsy ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:16635480|REF_RGD_ID:2313039 12420191 AIF1 allograft inflammatory factor 1 gene DOID:12098 trigeminal neuralgia ISO RGD:735562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12420191 AIF1 allograft inflammatory factor 1 gene DOID:12217 Lewy body dementia ISO RGD:735562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 12420191 AIF1 allograft inflammatory factor 1 gene DOID:14330 Parkinson's disease ISO RGD:735562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 12420191 AIF1 allograft inflammatory factor 1 gene DOID:1824 status epilepticus ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus, brain subventricular zone (rat) PMID:17178407|REF_RGD_ID:2313036 12420191 AIF1 allograft inflammatory factor 1 gene DOID:1969 cerebral palsy ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:corpus callosum (rat) PMID:19010395|REF_RGD_ID:2313028 12420191 AIF1 allograft inflammatory factor 1 gene DOID:231 motor neuron disease ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:cervical spinal cord (rat) PMID:18931666|REF_RGD_ID:2313029 12420191 AIF1 allograft inflammatory factor 1 gene DOID:2316 brain ischemia ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:18301954|REF_RGD_ID:2313032 12420191 AIF1 allograft inflammatory factor 1 gene DOID:2349 arteriosclerosis ISO RGD:62217 D RGD:9068941 20200609 RGD PMID:18204784|REF_RGD_ID:2313033 12420191 AIF1 allograft inflammatory factor 1 gene DOID:2921 glomerulonephritis ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:17035944|REF_RGD_ID:2313038 12420191 AIF1 allograft inflammatory factor 1 gene DOID:3454 brain infarction ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:brain subventricular zone (rat) PMID:19053043|REF_RGD_ID:2313025 12420191 AIF1 allograft inflammatory factor 1 gene DOID:3454 brain infarction ISO RGD:735562 D RGD:9068941 20200609 RGD protein:increased expression:brain white matter (human) PMID:10683518|REF_RGD_ID:2313026 12420191 AIF1 allograft inflammatory factor 1 gene DOID:630 genetic disease ISO RGD:735562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420191 AIF1 allograft inflammatory factor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:61924 D RGD:9068941 20200609 RGD protein:altered expression:spinal cord dorsal horn (rat) PMID:17158026|REF_RGD_ID:2313037 12420191 AIF1 allograft inflammatory factor 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:735562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27157545 12420191 AIF1 allograft inflammatory factor 1 gene DOID:9000641 Pain ISO RGD:61924 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:spinal cord dorsal horn (rat) PMID:18186080|REF_RGD_ID:2313034 12420191 AIF1 allograft inflammatory factor 1 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:61924 D RGD:9068941 20200609 RGD protein:decreased expression:brain (rat) PMID:19070908|REF_RGD_ID:2313024 12420191 AIF1 allograft inflammatory factor 1 gene DOID:9000998 Brain Injuries ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:19520144|REF_RGD_ID:2313020 12420191 AIF1 allograft inflammatory factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12420191 AIF1 allograft inflammatory factor 1 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:61924 D RGD:9068941 20200609 RGD PMID:9698327|REF_RGD_ID:704401 12420191 AIF1 allograft inflammatory factor 1 gene DOID:9002211 Hyperalgesia ISO RGD:61924 D RGD:9068941 20200609 RGD associated with Alcohol-Induced Disorders, Nervous System; protein:increased expression:spinal cord (rat) PMID:17284346|REF_RGD_ID:2313035 12420191 AIF1 allograft inflammatory factor 1 gene DOID:9002211 Hyperalgesia ISO RGD:735562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12420191 AIF1 allograft inflammatory factor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:61924 D RGD:9068941 20200609 RGD protein:altered expression:spinal cord (rat) PMID:19246105|REF_RGD_ID:2313022 12420191 AIF1 allograft inflammatory factor 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:right cerebral hemisphere (rat) PMID:19447505|REF_RGD_ID:2313021 12420191 AIF1 allograft inflammatory factor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:Kupffer cell (rat) PMID:16500929|REF_RGD_ID:2313040 12420191 AIF1 allograft inflammatory factor 1 gene DOID:9005372 Inflammation ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus (rat) PMID:19020040|REF_RGD_ID:2313027 12420191 AIF1 allograft inflammatory factor 1 gene DOID:9006205 Animal Disease Models ISO RGD:735562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 12420191 AIF1 allograft inflammatory factor 1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (rat) PMID:15710454|REF_RGD_ID:2313042 12420191 AIF1 allograft inflammatory factor 1 gene DOID:9007727 Alcohol-Induced Disorders, Nervous System ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:cortex, hippocampus (rat) PMID:18585922|REF_RGD_ID:2313030 12420191 AIF1 allograft inflammatory factor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735562 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:rs2259571 (human) PMID:18987644|REF_RGD_ID:2313199 12420191 AIF1 allograft inflammatory factor 1 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:61924 D RGD:9068941 20200609 RGD PMID:9391121|REF_RGD_ID:2313043 12420201 NINL ninein like gene DOID:0060041 autism spectrum disorder ISO RGD:1604826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12420201 NINL ninein like gene DOID:12849 autistic disorder ISO RGD:1604826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12420201 NINL ninein like gene DOID:630 genetic disease ISO RGD:1604826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420241 CPLX1 complexin 1 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:735999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12420241 CPLX1 complexin 1 gene DOID:0080426 developmental and epileptic encephalopathy 63 ISO RGD:735999 D RGD:7240710 20190315 OMIM 12420241 CPLX1 complexin 1 gene DOID:0080426 developmental and epileptic encephalopathy 63 ISO RGD:735999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 63 PMID:25741868|PMID:26539891|PMID:28422131|PMID:28492532 12420241 CPLX1 complexin 1 gene DOID:0110604 primary ciliary dyskinesia 18 ISO RGD:735999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 18 PMID:25741868 12420241 CPLX1 complexin 1 gene DOID:11832 visual epilepsy ISO RGD:733328 D RGD:9068941 20200609 RGD PMID:11163241|REF_RGD_ID:734813 12420241 CPLX1 complexin 1 gene DOID:1856 cherubism ISO RGD:735999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12420241 CPLX1 complexin 1 gene DOID:2468 psychotic disorder ISO RGD:735999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12420241 CPLX1 complexin 1 gene DOID:3312 bipolar disorder ISO RGD:735999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12420241 CPLX1 complexin 1 gene DOID:5419 schizophrenia ISO RGD:735999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12420241 CPLX1 complexin 1 gene DOID:630 genetic disease ISO RGD:735999 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12420241 CPLX1 complexin 1 gene DOID:9000495 Tremor ISO RGD:70944 D RGD:9068941 20210702 RGD PMID:31875236|REF_RGD_ID:127285808 12420241 CPLX1 complexin 1 gene DOID:9004866 Ataxia ISO RGD:70944 D RGD:9068941 20210702 RGD PMID:31875236|REF_RGD_ID:127285808 12420241 CPLX1 complexin 1 gene DOID:9004866 Ataxia ISO RGD:733328 D RGD:9068941 20200609 RGD PMID:11163241|REF_RGD_ID:734813 12420241 CPLX1 complexin 1 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:735999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 12420252 CTC1 CST telomere replication complex component 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1604790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 12420252 CTC1 CST telomere replication complex component 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1604790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12420252 CTC1 CST telomere replication complex component 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1604790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12420252 CTC1 CST telomere replication complex component 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1604790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:28492532 12420252 CTC1 CST telomere replication complex component 1 gene DOID:182 calcinosis ISO RGD:1604790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22267198 12420252 CTC1 CST telomere replication complex component 1 gene DOID:2493 gastric antral vascular ectasia ISO RGD:1604790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22267198 12420252 CTC1 CST telomere replication complex component 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1604790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:16199547|PMID:16943371|PMID:17576681|PMID:18076099|PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22532422|PMID:22899577|PMID:23172776|PMID:23220793|PMID:23869908|PMID:24033266|PMID:24115768|PMID:25182133|PMID:25197929|PMID:25741868|PMID:25843205|PMID:28135719|PMID:28492532|PMID:29111009|PMID:29146883|PMID:29228254|PMID:29481669|PMID:30393977|PMID:30523342|PMID:30891747|PMID:30995915|PMID:31785789|PMID:34573280|PMID:34706368|PMID:9536098 12420252 CTC1 CST telomere replication complex component 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1604790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12420252 CTC1 CST telomere replication complex component 1 gene DOID:630 genetic disease ISO RGD:1604790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:18076099|PMID:22267198|PMID:22387016|PMID:22532422|PMID:22899577|PMID:23869908|PMID:25741868|PMID:28492532|PMID:30891747 12420252 CTC1 CST telomere replication complex component 1 gene DOID:7736 retinal telangiectasia ISO RGD:1604790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22267198 12420252 CTC1 CST telomere replication complex component 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1604790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22267198 12420252 CTC1 CST telomere replication complex component 1 gene DOID:9003025 Cerebroretinal Microangiopathy with Calcifications and Cysts ISO RGD:1604790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coats plus syndrome PMID:22267198|PMID:22387016|PMID:23220793|PMID:23869908|PMID:24033266|PMID:25182133|PMID:25741868|PMID:28492532|PMID:30891747 12420252 CTC1 CST telomere replication complex component 1 gene DOID:9003371 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 ISO RGD:1604790 D RGD:7240710 20190501 OMIM 12420252 CTC1 CST telomere replication complex component 1 gene DOID:9003371 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 ISO RGD:1604790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 PMID:16199547|PMID:16943371|PMID:18076099|PMID:22267198|PMID:22387016|PMID:22532422|PMID:22899577|PMID:23869908|PMID:24033266|PMID:24115768|PMID:25182133|PMID:25197929|PMID:25741868|PMID:25843205|PMID:28492532|PMID:28864049|PMID:29111009|PMID:29146883|PMID:29228254|PMID:29481669|PMID:30523342|PMID:30891747|PMID:34573280 12420252 CTC1 CST telomere replication complex component 1 gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:1604790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive 12420252 CTC1 CST telomere replication complex component 1 gene DOID:936 brain disease ISO RGD:1604790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22267198 12420289 PLS3 plastin 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12420289 PLS3 plastin 3 gene DOID:11476 osteoporosis ISO RGD:731591 D RGD:7240710 20181003 OMIM 12420289 PLS3 plastin 3 gene DOID:11476 osteoporosis ISO RGD:731591 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 PMID:16199547|PMID:17576681|PMID:24088041|PMID:24088043|PMID:25741868|PMID:26633545|PMID:28492532|PMID:30405713|PMID:33166085|PMID:9536098 12420289 PLS3 plastin 3 gene DOID:12347 osteogenesis imperfecta ISO RGD:731591 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:24088043|PMID:25741868|PMID:28492532 12420289 PLS3 plastin 3 gene DOID:12849 autistic disorder ISO RGD:731591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12420289 PLS3 plastin 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:731591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia 12420289 PLS3 plastin 3 gene DOID:630 genetic disease ISO RGD:731591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420289 PLS3 plastin 3 gene DOID:8398 osteoarthritis ISO RGD:731591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12420289 PLS3 plastin 3 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:731591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Postmenopausal osteoporosis PMID:25741868 12420289 PLS3 plastin 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12420318 RBMX RNA binding motif protein X-linked gene DOID:0060022 CD40 ligand deficiency ISO RGD:1349812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12420318 RBMX RNA binding motif protein X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12420318 RBMX RNA binding motif protein X-linked gene DOID:0060825 Christianson syndrome ISO RGD:1349812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12420318 RBMX RNA binding motif protein X-linked gene DOID:0060826 syndromic X-linked intellectual disability Shashi type ISO RGD:1349812 D RGD:7240710 20180130 OMIM 12420318 RBMX RNA binding motif protein X-linked gene DOID:0060826 syndromic X-linked intellectual disability Shashi type ISO RGD:1349812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Shashi type PMID:10677307|PMID:25256757|PMID:25741868 12420318 RBMX RNA binding motif protein X-linked gene DOID:12849 autistic disorder ISO RGD:1349812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12420318 RBMX RNA binding motif protein X-linked gene DOID:630 genetic disease ISO RGD:1349812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420318 RBMX RNA binding motif protein X-linked gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1349812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12420318 RBMX RNA binding motif protein X-linked gene DOID:9000039 Spinal Cord Injuries ISO RGD:1565256 D RGD:9068941 20200609 RGD PMID:23180094|REF_RGD_ID:10053723 12420318 RBMX RNA binding motif protein X-linked gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1349812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 12420318 RBMX RNA binding motif protein X-linked gene DOID:9007823 Chromosome Xq26.3 Duplication Syndrome ISO RGD:1349812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome PMID:25712922|PMID:26935837 12420331 SELENOO selenoprotein O gene DOID:0060041 autism spectrum disorder ISO RGD:1605929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12420331 SELENOO selenoprotein O gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1605929 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12420331 SELENOO selenoprotein O gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1605929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12420331 SELENOO selenoprotein O gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1605929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12420331 SELENOO selenoprotein O gene DOID:10581 metachromatic leukodystrophy ISO RGD:1605929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12420331 SELENOO selenoprotein O gene DOID:1059 intellectual disability ISO RGD:1605929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12420331 SELENOO selenoprotein O gene DOID:630 genetic disease ISO RGD:1605929 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420343 ANKRD23 ankyrin repeat domain 23 gene DOID:1059 intellectual disability ISO RGD:1321281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12420343 ANKRD23 ankyrin repeat domain 23 gene DOID:5419 schizophrenia ISO RGD:1321281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12420343 ANKRD23 ankyrin repeat domain 23 gene DOID:6000 congestive heart failure ISO RGD:1321281 D RGD:9068941 20211008 RGD associated with Cardiomyopathy, Congestive PMID:15238456|REF_RGD_ID:2314858 12420343 ANKRD23 ankyrin repeat domain 23 gene DOID:630 genetic disease ISO RGD:1321281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420343 ANKRD23 ankyrin repeat domain 23 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1310398 D RGD:9068941 20211008 RGD RNA:altered expression:heart, brown adipose tissue, skeletal muscle tissue PMID:12456686|REF_RGD_ID:2314859 12420343 ANKRD23 ankyrin repeat domain 23 gene DOID:9775 diastolic heart failure ISO RGD:1321281 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12420356 KCNS3 potassium voltage-gated channel modifier subfamily S member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:731286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12420356 KCNS3 potassium voltage-gated channel modifier subfamily S member 3 gene DOID:630 genetic disease ISO RGD:731286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420380 GRB2 growth factor receptor bound protein 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:732473 D RGD:9068941 20200609 RGD DNA:amplification, mutation PMID:28930697|REF_RGD_ID:13504750 12420380 GRB2 growth factor receptor bound protein 2 gene DOID:10283 prostate cancer treatment ISO RGD:732473 D RGD:9068941 20200609 RGD PMID:17372910|REF_RGD_ID:13504751 12420380 GRB2 growth factor receptor bound protein 2 gene DOID:1612 breast cancer treatment ISO RGD:732473 D RGD:9068941 20200609 RGD PMID:17372910|REF_RGD_ID:13504751 12420380 GRB2 growth factor receptor bound protein 2 gene DOID:2526 prostate adenocarcinoma ISO RGD:732473 D RGD:9068941 20200609 RGD PMID:26103942|REF_RGD_ID:11056009 12420380 GRB2 growth factor receptor bound protein 2 gene DOID:2871 endometrial carcinoma severity ISO RGD:732473 D RGD:9068941 20200609 RGD Shc-Grb2 complex;protein:increased expression:serum (human) PMID:22459351|REF_RGD_ID:13441552 12420380 GRB2 growth factor receptor bound protein 2 gene DOID:630 genetic disease ISO RGD:732473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420390 PAMR1 peptidase domain containing associated with muscle regeneration 1 gene DOID:1059 intellectual disability ISO RGD:1604026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12420390 PAMR1 peptidase domain containing associated with muscle regeneration 1 gene DOID:6000 congestive heart failure ISO RGD:1604026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28751527 12420390 PAMR1 peptidase domain containing associated with muscle regeneration 1 gene DOID:630 genetic disease ISO RGD:1604026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420390 PAMR1 peptidase domain containing associated with muscle regeneration 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1604026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12420390 PAMR1 peptidase domain containing associated with muscle regeneration 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12420390 PAMR1 peptidase domain containing associated with muscle regeneration 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1604026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28751527 12420411 PEX16 peroxisomal biogenesis factor 16 gene DOID:0050444 infantile Refsum disease ISO RGD:1322796 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) PMID:11890679|PMID:16199547|PMID:17576681|PMID:20647552|PMID:20681997|PMID:25326635|PMID:25741868|PMID:27391121|PMID:28492532|PMID:30078639|PMID:9536098|PMID:9837814 12420411 PEX16 peroxisomal biogenesis factor 16 gene DOID:0050444 infantile Refsum disease ISO RGD:1322796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) PMID:11890679|PMID:16199547|PMID:17576681|PMID:20647552|PMID:20681997|PMID:24091540|PMID:25287621|PMID:25326635|PMID:25741868|PMID:27391121|PMID:28492532|PMID:30078639|PMID:31227335|PMID:9536098|PMID:9837814 12420411 PEX16 peroxisomal biogenesis factor 16 gene DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ISO RGD:1322796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY PMID:25741868|PMID:28492532 12420411 PEX16 peroxisomal biogenesis factor 16 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1322796 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY PMID:25741868|PMID:28492532 12420411 PEX16 peroxisomal biogenesis factor 16 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1322796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12420411 PEX16 peroxisomal biogenesis factor 16 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1322796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11890679|PMID:12223482 12420411 PEX16 peroxisomal biogenesis factor 16 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1322796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:25741868|PMID:28492532 12420411 PEX16 peroxisomal biogenesis factor 16 gene DOID:0080483 peroxisome biogenesis disorder 8A ISO RGD:1322796 D RGD:7240710 20180130 OMIM 12420411 PEX16 peroxisomal biogenesis factor 16 gene DOID:0080483 peroxisome biogenesis disorder 8A ISO RGD:1322796 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder due to PEX16 defect PMID:11890679|PMID:17576681|PMID:20647552|PMID:20681997|PMID:24091540|PMID:25287621|PMID:25326635|PMID:25741868|PMID:27391121|PMID:28492532|PMID:30078639|PMID:31227335|PMID:9536098|PMID:9837814 12420411 PEX16 peroxisomal biogenesis factor 16 gene DOID:1059 intellectual disability ISO RGD:1322796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12420411 PEX16 peroxisomal biogenesis factor 16 gene DOID:10907 microcephaly ISO RGD:1322796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12420411 PEX16 peroxisomal biogenesis factor 16 gene DOID:630 genetic disease ISO RGD:1322796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12420411 PEX16 peroxisomal biogenesis factor 16 gene DOID:9004875 Peroxisome Biogenesis Disorder 8B ISO RGD:1322796 D RGD:7240710 20180130 OMIM 12420411 PEX16 peroxisomal biogenesis factor 16 gene DOID:9004875 Peroxisome Biogenesis Disorder 8B ISO RGD:1322796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8B PMID:20647552|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26633545|PMID:27391121|PMID:28492532|PMID:30078639|PMID:31227335 12420411 PEX16 peroxisomal biogenesis factor 16 gene DOID:9006420 Zellweger Leukodystrophy ISO RGD:1322796 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:25741868|PMID:28492532 12420411 PEX16 peroxisomal biogenesis factor 16 gene DOID:905 Zellweger syndrome ISO RGD:1322796 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:11890679|PMID:16199547|PMID:17576681|PMID:20647552|PMID:20681997|PMID:25326635|PMID:25741868|PMID:27391121|PMID:28492532|PMID:30078639|PMID:9536098|PMID:9837814 12420411 PEX16 peroxisomal biogenesis factor 16 gene DOID:905 Zellweger syndrome ISO RGD:1322796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum PMID:11890679|PMID:16199547|PMID:17576681|PMID:20647552|PMID:20681997|PMID:24091540|PMID:25287621|PMID:25326635|PMID:25741868|PMID:27391121|PMID:28492532|PMID:30078639|PMID:31227335|PMID:9536098|PMID:9837814 12420440 URAD ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase gene DOID:630 genetic disease ISO RGD:1626260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420446 KRT82 keratin 82 gene DOID:630 genetic disease ISO RGD:1350237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420459 GPATCH2 G-patch domain containing 2 gene DOID:0050439 Usher syndrome ISO RGD:1318884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 12420459 GPATCH2 G-patch domain containing 2 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1318884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12420459 GPATCH2 G-patch domain containing 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1318884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12420459 GPATCH2 G-patch domain containing 2 gene DOID:2843 long QT syndrome ISO RGD:1318884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12420459 GPATCH2 G-patch domain containing 2 gene DOID:630 genetic disease ISO RGD:1318884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420459 GPATCH2 G-patch domain containing 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12420476 SLF1 SMC5-SMC6 complex localization factor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1312535 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12420476 SLF1 SMC5-SMC6 complex localization factor 1 gene DOID:630 genetic disease ISO RGD:1312535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420476 SLF1 SMC5-SMC6 complex localization factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12420476 SLF1 SMC5-SMC6 complex localization factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312535 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12420510 TMC5 transmembrane channel like 5 gene DOID:630 genetic disease ISO RGD:1315994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420544 CLDN6 claudin 6 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1318839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12420544 CLDN6 claudin 6 gene DOID:1826 epilepsy ISO RGD:1318839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12420544 CLDN6 claudin 6 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318839 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12420544 CLDN6 claudin 6 gene DOID:630 genetic disease ISO RGD:1318839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420550 NLE1 notchless homolog 1 gene DOID:630 genetic disease ISO RGD:1604007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420550 NLE1 notchless homolog 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12420576 F2RL2 coagulation factor II thrombin receptor like 2 gene DOID:630 genetic disease ISO RGD:1348825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420576 F2RL2 coagulation factor II thrombin receptor like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12420582 CPNE6 copine 6 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1313396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12420582 CPNE6 copine 6 gene DOID:630 genetic disease ISO RGD:1313396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420582 CPNE6 copine 6 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1313396 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12420582 CPNE6 copine 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1313396 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12420606 NIBAN2 niban apoptosis regulator 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12420606 NIBAN2 niban apoptosis regulator 2 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:1315963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 PMID:25741868 12420606 NIBAN2 niban apoptosis regulator 2 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1315963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12420606 NIBAN2 niban apoptosis regulator 2 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1315963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 12420606 NIBAN2 niban apoptosis regulator 2 gene DOID:0080600 COVID-19 ISO RGD:1315963 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12420606 NIBAN2 niban apoptosis regulator 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 12420606 NIBAN2 niban apoptosis regulator 2 gene DOID:630 genetic disease ISO RGD:1315963 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420624 ANKLE1 ankyrin repeat and LEM domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:1605878 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12420624 ANKLE1 ankyrin repeat and LEM domain containing 1 gene DOID:630 genetic disease ISO RGD:1605878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420637 ANO1 anoctamin 1 gene DOID:1059 intellectual disability ISO RGD:1321890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12420637 ANO1 anoctamin 1 gene DOID:630 genetic disease ISO RGD:1321890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420637 ANO1 anoctamin 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1321890 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12420637 ANO1 anoctamin 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1321890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12420669 CTBP1 C-terminal binding protein 1 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:732729 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome PMID:25741868|PMID:28492532 12420669 CTBP1 C-terminal binding protein 1 gene DOID:1059 intellectual disability ISO RGD:732729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12420669 CTBP1 C-terminal binding protein 1 gene DOID:10907 microcephaly ISO RGD:732729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12420669 CTBP1 C-terminal binding protein 1 gene DOID:1856 cherubism ISO RGD:732729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 12420669 CTBP1 C-terminal binding protein 1 gene DOID:630 genetic disease ISO RGD:732729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:27094857|PMID:28492532|PMID:28955726|PMID:29878067|PMID:31041561|PMID:9536098 12420669 CTBP1 C-terminal binding protein 1 gene DOID:9001308 Wittwer Syndrome ISO RGD:732729 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wittwer syndrome PMID:25741868|PMID:28492532 12420669 CTBP1 C-terminal binding protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17028196 12420669 CTBP1 C-terminal binding protein 1 gene DOID:9009147 HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME ISO RGD:732729 D RGD:7240710 20190315 OMIM 12420669 CTBP1 C-terminal binding protein 1 gene DOID:9009147 HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME ISO RGD:732729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome PMID:25741868|PMID:27094857|PMID:28492532|PMID:28955726|PMID:29878067|PMID:31041561 12420682 KLHL5 kelch like family member 5 gene DOID:630 genetic disease ISO RGD:1320120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420682 KLHL5 kelch like family member 5 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1320120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 12420682 KLHL5 kelch like family member 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1320120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 12420715 HOXC11 homeobox C11 gene DOID:630 genetic disease ISO RGD:1313485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420715 HOXC11 homeobox C11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12420720 RAMP3 receptor activity modifying protein 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:737378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12420720 RAMP3 receptor activity modifying protein 3 gene DOID:630 genetic disease ISO RGD:737378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420720 RAMP3 receptor activity modifying protein 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:737378 D RGD:9068941 20220421 RGD associated with colorectal cancer; protein:increased expression:lymph node (human) PMID:23634287|REF_RGD_ID:151708733 12420720 RAMP3 receptor activity modifying protein 3 gene DOID:9256 colorectal cancer ISO RGD:737378 D RGD:9068941 20220609 RGD mRNA:increased expression:colorectum (human) PMID:21839130|REF_RGD_ID:152985531 12420798 SST somatostatin gene DOID:10763 hypertension ISO RGD:3761 D RGD:9068941 20200609 RGD protein:altered expression:stomach PMID:17928643|REF_RGD_ID:2303191 12420798 SST somatostatin gene DOID:10808 gastric ulcer ISO RGD:3761 D RGD:9068941 20200609 RGD PMID:17990461|REF_RGD_ID:2303186 12420798 SST somatostatin gene DOID:112 esophageal varix ISO RGD:734231 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1385068 12420798 SST somatostatin gene DOID:14566 disease of cellular proliferation ISO RGD:734231 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21692635 12420798 SST somatostatin gene DOID:1793 pancreatic cancer ISO RGD:734231 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2868874 12420798 SST somatostatin gene DOID:289 endometriosis ISO RGD:734231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12420798 SST somatostatin gene DOID:326 ischemia ISO RGD:734231 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18624922 12420798 SST somatostatin gene DOID:3324 mood disorder ISO RGD:734231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25600109 12420798 SST somatostatin gene DOID:4500 hypokalemia ISO RGD:734231 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2563217 12420798 SST somatostatin gene DOID:4989 pancreatitis ISO RGD:734231 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7911442 12420798 SST somatostatin gene DOID:5419 schizophrenia ISO RGD:734231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12420798 SST somatostatin gene DOID:5574 vipoma ISO RGD:734231 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2868874 12420798 SST somatostatin gene DOID:8725 vascular dementia ISO RGD:3761 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:18925713|REF_RGD_ID:2303174 12420798 SST somatostatin gene DOID:9000117 Esophageal Neoplasms ISO RGD:734231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17999418 12420798 SST somatostatin gene DOID:9002906 Multiple Organ Failure ISO RGD:734231 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15834315 12420798 SST somatostatin gene DOID:9003281 Spontaneous Abortions ISO RGD:734231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12420798 SST somatostatin gene DOID:9206 Barrett's esophagus ISO RGD:734231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17999418 12420804 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349836 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12420804 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:1240 leukemia ISO RGD:1349836 D RGD:9068941 20200609 RGD DNA:translocation: :t(5;12)(q31;p13) (human) PMID:10502316|REF_RGD_ID:1599805 12420804 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1349836 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 12420804 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:5419 schizophrenia ISO RGD:1349836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12420804 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:630 genetic disease ISO RGD:1349836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420804 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:670 amphetamine abuse ISO RGD:1349836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12420804 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12420804 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:9005372 Inflammation ISO RGD:69403 D RGD:9068941 20200609 RGD mRNA:increased expression:lumbar spinal cord (rat) PMID:14622223|REF_RGD_ID:2315920 12420804 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69403 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:16428347|REF_RGD_ID:1599808 12420804 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12420804 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349836 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12420804 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:9119 acute myeloid leukemia ISO RGD:1349836 D RGD:9068941 20200609 RGD DNA:translocation: :t(5;12)(q31;p13) (human) PMID:10502316|REF_RGD_ID:1599805 12420844 SEPTIN8 septin 8 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318222 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12420844 SEPTIN8 septin 8 gene DOID:630 genetic disease ISO RGD:1318222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420844 SEPTIN8 septin 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12420844 SEPTIN8 septin 8 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318222 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12420875 MGAT4C MGAT4 family member C gene DOID:630 genetic disease ISO RGD:1604033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420905 MRPL11 mitochondrial ribosomal protein L11 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1347202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 12420905 MRPL11 mitochondrial ribosomal protein L11 gene DOID:1059 intellectual disability ISO RGD:1347202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12420905 MRPL11 mitochondrial ribosomal protein L11 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1347202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12420905 MRPL11 mitochondrial ribosomal protein L11 gene DOID:2746 glycogen storage disease V ISO RGD:1347202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12420905 MRPL11 mitochondrial ribosomal protein L11 gene DOID:630 genetic disease ISO RGD:1347202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420905 MRPL11 mitochondrial ribosomal protein L11 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1347202 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12420905 MRPL11 mitochondrial ribosomal protein L11 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1347202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12420914 HDDC2 HD domain containing 2 gene DOID:630 genetic disease ISO RGD:1316830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420924 RAP2A RAP2A, member of RAS oncogene family gene DOID:0110878 holoprosencephaly 5 ISO RGD:1348992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 12420924 RAP2A RAP2A, member of RAS oncogene family gene DOID:630 genetic disease ISO RGD:1348992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420924 RAP2A RAP2A, member of RAS oncogene family gene DOID:7148 rheumatoid arthritis ISO RGD:1348992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 12420924 RAP2A RAP2A, member of RAS oncogene family gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1348992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12420930 MTFR1 mitochondrial fission regulator 1 gene DOID:630 genetic disease ISO RGD:1605712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420951 LGALS8 galectin 8 gene DOID:1540 parathyroid carcinoma ISO RGD:1354427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12420951 LGALS8 galectin 8 gene DOID:630 genetic disease ISO RGD:1354427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420951 LGALS8 galectin 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12420994 NDUFA8 NADH:ubiquinone oxidoreductase subunit A8 gene DOID:630 genetic disease ISO RGD:1314815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12420994 NDUFA8 NADH:ubiquinone oxidoreductase subunit A8 gene DOID:9000429 Nuclear Type Mitochondrial Complex I Deficiency 37 ISO RGD:1314815 D RGD:7240710 20210505 OMIM 12420994 NDUFA8 NADH:ubiquinone oxidoreductase subunit A8 gene DOID:9000429 Nuclear Type Mitochondrial Complex I Deficiency 37 ISO RGD:1314815 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 PMID:25741868|PMID:32385911|PMID:33153867 12421002 FRMPD1 FERM and PDZ domain containing 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1313132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12421002 FRMPD1 FERM and PDZ domain containing 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1313132 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12421002 FRMPD1 FERM and PDZ domain containing 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1313132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12421002 FRMPD1 FERM and PDZ domain containing 1 gene DOID:630 genetic disease ISO RGD:1313132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12421002 FRMPD1 FERM and PDZ domain containing 1 gene DOID:687 hepatoblastoma ISO RGD:1313132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 12421002 FRMPD1 FERM and PDZ domain containing 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1305229 D RGD:9068941 20200609 RGD PMID:17404222|REF_RGD_ID:1601189 12421002 FRMPD1 FERM and PDZ domain containing 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12421002 FRMPD1 FERM and PDZ domain containing 1 gene DOID:9870 galactosemia ISO RGD:1313132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12421074 MAU2 MAU2 sister chromatid cohesion factor gene DOID:0060041 autism spectrum disorder ISO RGD:1318717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12421074 MAU2 MAU2 sister chromatid cohesion factor gene DOID:630 genetic disease ISO RGD:1318717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12421101 SLC38A2 solute carrier family 38 member 2 gene DOID:11832 visual epilepsy ISO RGD:69420 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:21138736|REF_RGD_ID:9999229 12421101 SLC38A2 solute carrier family 38 member 2 gene DOID:630 genetic disease ISO RGD:736694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12421101 SLC38A2 solute carrier family 38 member 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:69420 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:placenta PMID:21812961|REF_RGD_ID:9999212 12421101 SLC38A2 solute carrier family 38 member 2 gene DOID:9004484 Sepsis ISO RGD:69420 D RGD:9068941 20200609 RGD PMID:20338592|REF_RGD_ID:9999218 12421101 SLC38A2 solute carrier family 38 member 2 gene DOID:9005166 Contusions ISO RGD:69420 D RGD:9068941 20200609 RGD PMID:24045877|REF_RGD_ID:9999219 12421101 SLC38A2 solute carrier family 38 member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69420 D RGD:9068941 20200609 RGD PMID:11798158|REF_RGD_ID:9999213 12421123 CDH12 cadherin 12 gene DOID:630 genetic disease ISO RGD:1343875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12421123 CDH12 cadherin 12 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343875 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 12421123 CDH12 cadherin 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12421148 RAPGEF1 Rap guanine nucleotide exchange factor 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:731405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12421148 RAPGEF1 Rap guanine nucleotide exchange factor 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:731405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12421148 RAPGEF1 Rap guanine nucleotide exchange factor 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:619793 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus PMID:18784646|REF_RGD_ID:11534983 12421148 RAPGEF1 Rap guanine nucleotide exchange factor 1 gene DOID:4783 mesangial proliferative glomerulonephritis ISO RGD:619793 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus PMID:20725139|REF_RGD_ID:11534982 12421148 RAPGEF1 Rap guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:731405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12421148 RAPGEF1 Rap guanine nucleotide exchange factor 1 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:731405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 12421223 RNF151 ring finger protein 151 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1319576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 12421223 RNF151 ring finger protein 151 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1319576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12421223 RNF151 ring finger protein 151 gene DOID:1826 epilepsy ISO RGD:1319576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12421223 RNF151 ring finger protein 151 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12421223 RNF151 ring finger protein 151 gene DOID:630 genetic disease ISO RGD:1319576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12421232 APLN apelin gene DOID:0060180 colitis ISO RGD:1332289 D RGD:9068941 20200609 RGD PMID:17391779|REF_RGD_ID:1626177 12421232 APLN apelin gene DOID:0060180 colitis ISO RGD:620672 D RGD:9068941 20200609 RGD PMID:17391779|REF_RGD_ID:1626177 12421232 APLN apelin gene DOID:0060224 atrial fibrillation ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16278229|REF_RGD_ID:1626174 12421232 APLN apelin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12421232 APLN apelin gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1351986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:22796527|PMID:24357419|PMID:28492532 12421232 APLN apelin gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1351986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:22965764|PMID:28492532 12421232 APLN apelin gene DOID:10763 hypertension ISO RGD:620672 D RGD:9068941 20200609 RGD mRNA:decreased expression:aorta, heart PMID:15664402|REF_RGD_ID:1626176 12421232 APLN apelin gene DOID:11981 morbid obesity ISO RGD:1351986 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19756893|REF_RGD_ID:2313938 12421232 APLN apelin gene DOID:11981 morbid obesity ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15970339|REF_RGD_ID:1600932 12421232 APLN apelin gene DOID:12849 autistic disorder ISO RGD:1351986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12421232 APLN apelin gene DOID:1920 hyperuricemia ISO RGD:1351986 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30710622 12421232 APLN apelin gene DOID:4248 coronary stenosis ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19015606|REF_RGD_ID:2313942 12421232 APLN apelin gene DOID:6000 congestive heart failure ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16263185|REF_RGD_ID:1626175 12421232 APLN apelin gene DOID:6000 congestive heart failure ISO RGD:620672 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary PMID:17055480|REF_RGD_ID:1626171 12421232 APLN apelin gene DOID:6000 congestive heart failure ISO RGD:620672 D RGD:9068941 20200609 RGD protein:increased expression:ventricle myocardium PMID:17119870|REF_RGD_ID:1626186 12421232 APLN apelin gene DOID:630 genetic disease ISO RGD:1351986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12421232 APLN apelin gene DOID:6432 pulmonary hypertension ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16263185|REF_RGD_ID:1626175 12421232 APLN apelin gene DOID:684 hepatocellular carcinoma ISO RGD:1351986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12421232 APLN apelin gene DOID:8577 ulcerative colitis ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:increased expression:intestine PMID:17391779|REF_RGD_ID:1626177 12421232 APLN apelin gene DOID:8778 Crohn's disease ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:increased expression:intestine PMID:17391779|REF_RGD_ID:1626177 12421232 APLN apelin gene DOID:9000784 Fibrosis ISO RGD:1351986 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:30634441 12421232 APLN apelin gene DOID:9003936 Cardiomegaly ISO RGD:1351986 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:30634441 12421232 APLN apelin gene DOID:9003936 Cardiomegaly ISO RGD:620672 D RGD:9068941 20200609 RGD associated with Hypertension;protein:decreased expression:plasma, aorta, ventricle myocardium PMID:16674982|REF_RGD_ID:1626173 12421232 APLN apelin gene DOID:9006024 Hypotension ISO RGD:1351986 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:30634441 12421232 APLN apelin gene DOID:9007692 Insulin Resistance ISO RGD:620672 D RGD:9068941 20200609 RGD mRNA:increased expression:subcutaneous adipose tissue PMID:17594060|REF_RGD_ID:1626170 12421232 APLN apelin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:18484561|REF_RGD_ID:2313944 12421232 APLN apelin gene DOID:9775 diastolic heart failure ISO RGD:1351986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12421232 APLN apelin gene DOID:9970 obesity ISO RGD:620672 D RGD:9068941 20200609 RGD mRNA:increased expression:subcutaneous adipose tissue PMID:17594060|REF_RGD_ID:1626170 12421239 LOC612644 cytochrome c oxidase subunit 6B1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1343660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12421239 LOC612644 cytochrome c oxidase subunit 6B1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1343660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12421239 LOC612644 cytochrome c oxidase subunit 6B1 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1343660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:18499082|PMID:24781756|PMID:25741868|PMID:28492532 12421239 LOC612644 cytochrome c oxidase subunit 6B1 gene DOID:543 dystonia ISO RGD:1343660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 12421239 LOC612644 cytochrome c oxidase subunit 6B1 gene DOID:630 genetic disease ISO RGD:1343660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12421239 LOC612644 cytochrome c oxidase subunit 6B1 gene DOID:9003553 Mitochondrial Complex IV Deficiency, Nuclear Type 7 ISO RGD:1343660 D RGD:7240710 20201111 OMIM 12421239 LOC612644 cytochrome c oxidase subunit 6B1 gene DOID:9003553 Mitochondrial Complex IV Deficiency, Nuclear Type 7 ISO RGD:1343660 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 PMID:25741868|PMID:28492532 12421239 LOC612644 cytochrome c oxidase subunit 6B1 gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:1343660 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:25741868 12421247 RAB33A RAB33A, member RAS oncogene family gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1344985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:17576681|PMID:20362274|PMID:20818383|PMID:22019070|PMID:23217327|PMID:23806086|PMID:24088041|PMID:25583628|PMID:25590979|PMID:25741868|PMID:25934856|PMID:25986071|PMID:26173962|PMID:26257172|PMID:26467025|PMID:27102849|PMID:28492532|PMID:28842795|PMID:28888069|PMID:28967629|PMID:28975462|PMID:29625556|PMID:31523922|PMID:31850270|PMID:32376792|PMID:33146414|PMID:3856385|PMID:9536098 12421247 RAB33A RAB33A, member RAS oncogene family gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1344985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:25741868|PMID:25986071|PMID:28492532|PMID:31850270 12421247 RAB33A RAB33A, member RAS oncogene family gene DOID:0060786 hypomyelinating leukodystrophy ISO RGD:1344985 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy PMID:25741868|PMID:28842795 12421247 RAB33A RAB33A, member RAS oncogene family gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12421247 RAB33A RAB33A, member RAS oncogene family gene DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 ISO RGD:1344985 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 PMID:20362274|PMID:20818383|PMID:22019070|PMID:23217327|PMID:23806086|PMID:24088041|PMID:25583628|PMID:25590979|PMID:25741868|PMID:25934856|PMID:25986071|PMID:26173962|PMID:26257172|PMID:27102849|PMID:28492532|PMID:28842795|PMID:28967629|PMID:31523922|PMID:32376792|PMID:3856385 12421247 RAB33A RAB33A, member RAS oncogene family gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1344985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder 12421247 RAB33A RAB33A, member RAS oncogene family gene DOID:0111502 combined oxidative phosphorylation deficiency 6 ISO RGD:1344985 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy PMID:20362274|PMID:22019070|PMID:25583628|PMID:25741868|PMID:26173962|PMID:26467025|PMID:28492532 12421247 RAB33A RAB33A, member RAS oncogene family gene DOID:0111741 X-linked deafness 5 ISO RGD:1344985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5 PMID:16816020|PMID:25741868|PMID:25986071|PMID:28492532|PMID:31850270 12421247 RAB33A RAB33A, member RAS oncogene family gene DOID:10003 sensorineural hearing loss ISO RGD:1344985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25590979|PMID:25741868|PMID:28492532|PMID:28967629|PMID:31523922 12421247 RAB33A RAB33A, member RAS oncogene family gene DOID:10283 prostate cancer ISO RGD:1344985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12421247 RAB33A RAB33A, member RAS oncogene family gene DOID:10579 leukodystrophy ISO RGD:1344985 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:25741868|PMID:28842795 12421247 RAB33A RAB33A, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1344985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12421247 RAB33A RAB33A, member RAS oncogene family gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1344985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:26467025|PMID:28492532 12421247 RAB33A RAB33A, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:1344985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12421247 RAB33A RAB33A, member RAS oncogene family gene DOID:574 peripheral nervous system disease ISO RGD:1344985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 12421247 RAB33A RAB33A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1344985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20362274|PMID:20818383|PMID:22019070|PMID:23217327|PMID:25583628|PMID:25741868|PMID:25934856|PMID:25986071|PMID:26173962|PMID:27102849|PMID:28492532|PMID:28842795|PMID:32376792|PMID:3856385|PMID:9536098 12421247 RAB33A RAB33A, member RAS oncogene family gene DOID:870 neuropathy ISO RGD:1344985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 12421247 RAB33A RAB33A, member RAS oncogene family gene DOID:9000068 X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy ISO RGD:1344985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy PMID:10486082|PMID:16924009|PMID:23239615|PMID:25741868|PMID:27102849|PMID:28492532|PMID:28842795 12421247 RAB33A RAB33A, member RAS oncogene family gene DOID:9002408 Sketetal Dysplasia Coarse Facies Mental Retardation ISO RGD:1344985 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia X-linked with mental deterioration PMID:10486082|PMID:16924009|PMID:23239615|PMID:25741868|PMID:27102849|PMID:28492532|PMID:28842795 12421253 NKAPL NFKB activating protein like gene DOID:11372 megacolon ISO RGD:1323244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12421253 NKAPL NFKB activating protein like gene DOID:5419 schizophrenia ISO RGD:1323244 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22037552 12421253 NKAPL NFKB activating protein like gene DOID:630 genetic disease ISO RGD:1323244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12421259 NDC1 NDC1 transmembrane nucleoporin gene DOID:630 genetic disease ISO RGD:1601865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12421259 NDC1 NDC1 transmembrane nucleoporin gene DOID:9004657 Weight Gain ISO RGD:1601865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12421259 NDC1 NDC1 transmembrane nucleoporin gene DOID:9008086 Developmental Disabilities ISO RGD:1601865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12421284 GPHA2 glycoprotein hormone subunit alpha 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12421284 GPHA2 glycoprotein hormone subunit alpha 2 gene DOID:1059 intellectual disability ISO RGD:1604186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12421284 GPHA2 glycoprotein hormone subunit alpha 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12421284 GPHA2 glycoprotein hormone subunit alpha 2 gene DOID:2746 glycogen storage disease V ISO RGD:1604186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12421284 GPHA2 glycoprotein hormone subunit alpha 2 gene DOID:3070 high grade glioma ISO RGD:1604186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12421284 GPHA2 glycoprotein hormone subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1604186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12421314 KIF25 kinesin family member 25 gene DOID:630 genetic disease ISO RGD:1345652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12421337 CCM2 CCM2 scaffold protein gene DOID:0060669 cerebral cavernous malformation ISO RGD:1317623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation PMID:25525273|PMID:25741868|PMID:28492532 12421337 CCM2 CCM2 scaffold protein gene DOID:0060670 cerebral cavernous malformation 2 ISO RGD:1317623 D RGD:7240710 20180130 OMIM 12421337 CCM2 CCM2 scaffold protein gene DOID:0060670 cerebral cavernous malformation 2 ISO RGD:1317623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 2 PMID:14624391|PMID:14740320|PMID:15122722|PMID:16199547|PMID:17160895|PMID:17277691|PMID:17576681|PMID:18060436|PMID:18300272|PMID:19088123|PMID:19088124|PMID:19475721|PMID:20419355|PMID:23595507|PMID:24466005|PMID:2468908|PMID:24689081|PMID:25525273|PMID:25741868|PMID:26467025|PMID:27153162|PMID:27561926|PMID:27792856|PMID:28492532|PMID:28655553|PMID:30161288|PMID:32860008|PMID:35307828|PMID:9536098 12421337 CCM2 CCM2 scaffold protein gene DOID:483 cavernous hemangioma ISO RGD:1317623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cavernous hemangioma PMID:25741868 12421337 CCM2 CCM2 scaffold protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12421337 CCM2 CCM2 scaffold protein gene DOID:630 genetic disease ISO RGD:1317623 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 12421337 CCM2 CCM2 scaffold protein gene DOID:865 vasculitis ISO RGD:1317623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vasculitis PMID:25741868 12421337 CCM2 CCM2 scaffold protein gene DOID:8725 vascular dementia ISO RGD:1317623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:28492532|PMID:33268848|PMID:35307828 12421337 CCM2 CCM2 scaffold protein gene DOID:9003443 Central Nervous System Vascular Malformations susceptibility ISO RGD:1317623 D RGD:9068941 20200609 RGD DNA:deletions: ; Cerebral cavernous malformations, OMIM:603284 PMID:17160895|REF_RGD_ID:1600689 12421368 RTL1 retrotransposon Gag like 1 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 12421368 RTL1 retrotransposon Gag like 1 gene DOID:630 genetic disease ISO RGD:1602404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12421372 LOC102151342 ATP synthase subunit d, mitochondrial-like gene DOID:0050328 congenital hypothyroidism ISO RGD:620083 D RGD:9068941 20210219 RGD protein:altered expression:cerebral cortex (rat) PMID:21575372|REF_RGD_ID:11049155 12421372 LOC102151342 ATP synthase subunit d, mitochondrial-like gene DOID:1596 depressive disorder treatment ISO RGD:620083 D RGD:9068941 20210219 RGD PMID:25641667|REF_RGD_ID:13800885 12421372 LOC102151342 ATP synthase subunit d, mitochondrial-like gene DOID:3910 lung adenocarcinoma ISO RGD:1351705 D RGD:9068941 20210219 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 12421372 LOC102151342 ATP synthase subunit d, mitochondrial-like gene DOID:684 hepatocellular carcinoma ISO RGD:1351705 D RGD:9068941 20210219 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 12421372 LOC102151342 ATP synthase subunit d, mitochondrial-like gene DOID:9000998 Brain Injuries treatment ISO RGD:620083 D RGD:9068941 20210219 RGD PMID:26813465|REF_RGD_ID:13800884 12421372 LOC102151342 ATP synthase subunit d, mitochondrial-like gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620083 D RGD:9068941 20210219 RGD protein:decreased expression:retina (rat) PMID:17465459|REF_RGD_ID:5147874 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:15176425|PMID:16244680|PMID:22402334|PMID:22581653|PMID:25741868|PMID:28492532 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0050451 Brugada syndrome ISO RGD:732101 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:11997281|PMID:14661677|PMID:14760488|PMID:15840476|PMID:16043162|PMID:16487223|PMID:19841300|PMID:22581653|PMID:22584458|PMID:22949429|PMID:23861362|PMID:24223155|PMID:25417810|PMID:25741868|PMID:27711072|PMID:28492532|PMID:30662450|PMID:34135346 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0050793 short QT syndrome ISO RGD:732101 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Short QT syndrome PMID:11173780|PMID:12925462|PMID:14676148|PMID:15828882|PMID:18692916|PMID:19088443|PMID:19174314|PMID:19340359|PMID:19413965|PMID:19439805|PMID:19501051|PMID:19926013|PMID:21130771|PMID:21798421|PMID:22194679|PMID:22581653|PMID:23300672|PMID:23471968|PMID:24291113|PMID:25741868|PMID:25974115|PMID:28491588|PMID:28492532 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0060224 atrial fibrillation ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:10807545|PMID:11997281|PMID:12402336|PMID:12829173|PMID:14661677|PMID:14760488|PMID:15599693|PMID:16116052|PMID:16132053|PMID:16487223|PMID:17161064|PMID:17210839|PMID:18060054|PMID:18222980|PMID:18808722|PMID:19841300|PMID:22581653|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:732101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11222472|PMID:11468227|PMID:11668638|PMID:14998624|PMID:22581653|PMID:24606995|PMID:25417810|PMID:25741868|PMID:28492532 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110218 Brugada syndrome 1 ISO RGD:732101 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:19716085|PMID:22581653|PMID:23861362|PMID:25417810|PMID:25637381|PMID:25741868|PMID:26332594|PMID:28492532|PMID:29247119|PMID:29255176|PMID:29752375|PMID:31696929|PMID:32048431 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:732101 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10226095|PMID:10483966|PMID:10560244|PMID:10690305|PMID:10753933|PMID:10841244|PMID:10862094|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11741928|PMID:11854117|PMID:11997281|PMID:12062363|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12477631|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12775586|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14720170|PMID:14760488|PMID:14998624|PMID:15043509|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15242738|PMID:15280442|PMID:15466642|PMID:15500450|PMID:15545400|PMID:15635208|PMID:15840476|PMID:15851119|PMID:15851652|PMID:16155735|PMID:16166152|PMID:16244680|PMID:16253912|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17445409|PMID:17569659|PMID:17823114|PMID:17905336|PMID:18004376|PMID:18093521|PMID:18222468|PMID:18386051|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18593567|PMID:18596570|PMID:18675227|PMID:18752142|PMID:18791070|PMID:18808722|PMID:18955593|PMID:19038855|PMID:19057127|PMID:19070294|PMID:19160088|PMID:19169982|PMID:19306396|PMID:19352046|PMID:19371231|PMID:19490267|PMID:19694797|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20167303|PMID:20197117|PMID:20301308|PMID:20348026|PMID:20541041|PMID:20544339|PMID:20659946|PMID:20670193|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20950623|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21185501|PMID:21215473|PMID:21216356|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21440677|PMID:21490315|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22245016|PMID:22378279|PMID:22396785|PMID:22402334|PMID:22581653|PMID:22584458|PMID:22653970|PMID:22727609|PMID:22821100|PMID:22876326|PMID:22885918|PMID:22927196|PMID:22949429|PMID:22995991|PMID:23022675|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23304551|PMID:23316740|PMID:23338923|PMID:23465283|PMID:23470493|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23936059|PMID:23975098|PMID:23980196|PMID:23995044|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24217263|PMID:24223155|PMID:24363352|PMID:24388587|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24973560|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25417810|PMID:25576780|PMID:25608792|PMID:25637381|PMID:25741868|PMID:25819988|PMID:25925977|PMID:25967940|PMID:26063740|PMID:26129877|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27041096|PMID:27059892|PMID:27064559|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27492745|PMID:27555138|PMID:27803431|PMID:27871843|PMID:27920829|PMID:28082916|PMID:28292826|PMID:28349240|PMID:28431243|PMID:28449774|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28794082|PMID:28798025|PMID:28855170|PMID:28861002|PMID:28988457|PMID:29247119|PMID:29330128|PMID:29331839|PMID:29431731|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29752375|PMID:29766885|PMID:29884292|PMID:29957233|PMID:30012873|PMID:30123799|PMID:30246897|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31358886|PMID:31493592|PMID:31557540|PMID:31628797|PMID:31696929|PMID:31737537|PMID:31844156|PMID:32038248|PMID:32048431|PMID:32311972|PMID:32383558 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:732101 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:32475984|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33258288|PMID:34002542|PMID:34135346|PMID:34426522|PMID:34502138|PMID:34546463|PMID:34712263|PMID:36203036|PMID:7889573|PMID:8700910|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:732101 D RGD:7240710 20180130 OMIM 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:732101 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 | ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10560244|PMID:10735633|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10996323|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12175777|PMID:12354768|PMID:12402336|PMID:12477631|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12877697|PMID:14661677|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15051636|PMID:15090700|PMID:15176425|PMID:15466642|PMID:15522280|PMID:15599693|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16253915|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17576861|PMID:17597962|PMID:17905336|PMID:18060054|PMID:18222980|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18752142|PMID:18776039|PMID:18808722|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19070294|PMID:19160088|PMID:19169982|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19490267|PMID:19490382|PMID:19673885|PMID:19716085|PMID:19731233|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20931094|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21185501|PMID:21215473|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21490315|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21779290|PMID:21806934|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22378279|PMID:22382559|PMID:22402074|PMID:22402334|PMID:22429796|PMID:22573844|PMID:22581653|PMID:22653970|PMID:22677073|PMID:22876326|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23304551|PMID:23338923|PMID:23347029|PMID:23465283|PMID:23631430|PMID:23861362|PMID:23935525|PMID:23936059|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24217263|PMID:24334129|PMID:24363352|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24687331|PMID:24973560|PMID:25028483|PMID:25119684|PMID:25348405|PMID:25417810|PMID:25447171|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25914329|PMID:25925977|PMID:25967940|PMID:26063740|PMID:26129877|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26704558|PMID:26743238|PMID:26746457|PMID:26846766|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27041096|PMID:27041150|PMID:27153395|PMID:27231019|PMID:27650965|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28166811|PMID:28255936|PMID:28302345|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28492532|PMID:28532774|PMID:28704380|PMID:28807990|PMID:28988457|PMID:29247119|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:30041777|PMID:30086531|PMID:30246897|PMID:30276209|PMID:30369311|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30996762|PMID:31337358|PMID:31358886|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31737537|PMID:32009526|PMID:32048431|PMID:32238909|PMID:32475984|PMID:34008892|PMID:34135346|PMID:34906502|PMID:7889573|PMID:8635257|PMID:8700910|PMID:8799887|PMID:8914737 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:732101 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 | ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to PMID:8995352|PMID:9024139|PMID:9452080|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:732101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 | ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10560244|PMID:10735633|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12175777|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12477631|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12877697|PMID:14642687|PMID:14661677|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15051636|PMID:15090700|PMID:15176425|PMID:15242738|PMID:15466642|PMID:15522280|PMID:15572053|PMID:15599693|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:15913580|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16166152|PMID:16199547|PMID:16244680|PMID:16253915|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17576681|PMID:17597962|PMID:17905336|PMID:18060054|PMID:18222468|PMID:18222980|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18690032|PMID:18752142|PMID:18776039|PMID:18808722|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19070294|PMID:19160088|PMID:19169982|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19490267|PMID:19490382|PMID:19668779|PMID:19673885|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20301308|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20931094|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21185501|PMID:21215473|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21490315|PMID:21499742|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21779290|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22378279|PMID:22382559|PMID:22402074|PMID:22402334|PMID:22429796|PMID:22573844|PMID:22581653|PMID:22653970|PMID:22677073|PMID:22764740|PMID:22876326|PMID:22927196|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23304551|PMID:23338923|PMID:23347029|PMID:23382499|PMID:23465283|PMID:23546015|PMID:23631430|PMID:23861362|PMID:23899126|PMID:23935525|PMID:23936059|PMID:23980196|PMID:23995044|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24217263|PMID:24334129|PMID:24363352|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24687331|PMID:24973560|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25294783|PMID:25417810|PMID:25447171|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25819988|PMID:25914329|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26846766|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27041096|PMID:27041150|PMID:27153395|PMID:27231019|PMID:27492745|PMID:27555138|PMID:27650965|PMID:27711072|PMID:27761169|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28255936|PMID:28280240|PMID:28302345|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28492532 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:732101 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 | ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to PMID:28532774|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28798025|PMID:28807990|PMID:28861002|PMID:28988457|PMID:29016939|PMID:29192238|PMID:29247119|PMID:29331839|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29925740|PMID:29957233|PMID:30041777|PMID:30086531|PMID:30246897|PMID:30276209|PMID:30327538|PMID:30369311|PMID:30530868|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30847666|PMID:31114860|PMID:31337358|PMID:31358886|PMID:31493592|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31628797|PMID:31696929|PMID:31737537|PMID:32009526|PMID:32038248|PMID:32048431|PMID:32191791|PMID:32233023|PMID:32238909|PMID:32253972|PMID:32383558|PMID:32475984|PMID:32508047|PMID:32659924|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33517668|PMID:33764691|PMID:34002542|PMID:34008892|PMID:34135346|PMID:34309407|PMID:34319147|PMID:34426522|PMID:34502138|PMID:34546463|PMID:34841674|PMID:34906502|PMID:35688147|PMID:36102233|PMID:36197721|PMID:7889573|PMID:8635257|PMID:8700910|PMID:8799887|PMID:8914737|PMID:8995352|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:732101 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 | ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to | ClinVar Annotator: match by term: Long QT syndrome, bradycardia-induced PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10560244|PMID:10735633|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12175777|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12477631|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12877697|PMID:14642687|PMID:14661677|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15051636|PMID:15090700|PMID:15176425|PMID:15242738|PMID:15466642|PMID:15522280|PMID:15572053|PMID:15599693|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:15913580|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16166152|PMID:16199547|PMID:16244680|PMID:16253915|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17576681|PMID:17597962|PMID:17905336|PMID:18060054|PMID:18222468|PMID:18222980|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18690032|PMID:18752142|PMID:18776039|PMID:18808722|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19070294|PMID:19160088|PMID:19169982|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19490267|PMID:19490382|PMID:19668779|PMID:19673885|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20301308|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20931094|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21185501|PMID:21215473|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21490315|PMID:21499742|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21779290|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22378279|PMID:22382559|PMID:22402074|PMID:22402334|PMID:22429796|PMID:22573844|PMID:22581653|PMID:22584458|PMID:22653970|PMID:22677073|PMID:22764740|PMID:22876326|PMID:22927196|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23304551|PMID:23338923|PMID:23347029|PMID:23382499|PMID:23465283|PMID:23546015|PMID:23631430|PMID:23861362|PMID:23899126|PMID:23935525|PMID:23936059|PMID:23980196|PMID:23995044|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24217263|PMID:24223155|PMID:24334129|PMID:24363352|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24687331|PMID:24973560|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25294783|PMID:25417810|PMID:25447171|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25819988|PMID:25914329|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26846766|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27041096|PMID:27041150|PMID:27153395|PMID:27231019|PMID:27492745|PMID:27555138|PMID:27650965|PMID:27711072|PMID:27761169|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28255936|PMID:28280240|PMID:28302345|PMID:28360401|PMID:28431243|PMID:28449774 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:732101 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 | ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to | ClinVar Annotator: match by term: Long QT syndrome, bradycardia-induced PMID:28472724|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28798025|PMID:28807990|PMID:28861002|PMID:28988457|PMID:29016939|PMID:29192238|PMID:29247119|PMID:29255176|PMID:29331839|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29925740|PMID:29957233|PMID:30041777|PMID:30086531|PMID:30246897|PMID:30276209|PMID:30327538|PMID:30369311|PMID:30530868|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31114860|PMID:31337358|PMID:31358886|PMID:31493592|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31628797|PMID:31696929|PMID:31737537|PMID:32009526|PMID:32038248|PMID:32048431|PMID:32191791|PMID:32233023|PMID:32238909|PMID:32253972|PMID:32383558|PMID:32475984|PMID:32508047|PMID:32659924|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33517668|PMID:33764691|PMID:34002542|PMID:34008892|PMID:34135346|PMID:34309407|PMID:34319147|PMID:34426522|PMID:34502138|PMID:34546463|PMID:34712263|PMID:34841674|PMID:34906502|PMID:35688147|PMID:36102233|PMID:36197721|PMID:7889573|PMID:8635257|PMID:8700910|PMID:8799887|PMID:8914737|PMID:8995352|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110650 long QT syndrome 9 ISO RGD:732101 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2/9, digenic PMID:14661677|PMID:15840476|PMID:17060380|PMID:19716085|PMID:19862833|PMID:22245016|PMID:22581653|PMID:23139254|PMID:23174487|PMID:23631430|PMID:23936059|PMID:24021552|PMID:24606995|PMID:25417810|PMID:25741868|PMID:25967940|PMID:26213684|PMID:26383259|PMID:26746457|PMID:27231019|PMID:28492532|PMID:30327538|PMID:30369311|PMID:30704477|PMID:31737537|PMID:32048431 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19716085|PMID:22581653|PMID:24033266|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28492532 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15176425|PMID:16244680|PMID:22402334|PMID:22581653|PMID:25741868|PMID:28492532 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:14566 disease of cellular proliferation ISO RGD:732101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24830940 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10508236|PMID:10517660|PMID:10560244|PMID:10690305|PMID:10720411|PMID:10735633|PMID:10744792|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12062363|PMID:12175777|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12442276|PMID:12477631|PMID:12554641|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12837749|PMID:12877697|PMID:14642687|PMID:14661677|PMID:14714110|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15028050|PMID:15043509|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15242738|PMID:15280442|PMID:15364333|PMID:15466642|PMID:15475579|PMID:15500450|PMID:15522280|PMID:15572050|PMID:15572053|PMID:15599693|PMID:15670565|PMID:15699249|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:15851171|PMID:15851228|PMID:15851652|PMID:15913580|PMID:16029385|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16166152|PMID:16199547|PMID:16244680|PMID:16253912|PMID:16253915|PMID:16265869|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16470702|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:16923798|PMID:16937190|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17438606|PMID:17438609|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17569659|PMID:17576681|PMID:17576861|PMID:17597962|PMID:17823114|PMID:17876385|PMID:17905336|PMID:17908752|PMID:18004376|PMID:18060054|PMID:18218237|PMID:18222468|PMID:18222980|PMID:18348270|PMID:18386051|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18675227|PMID:18752142|PMID:18774102|PMID:18776039|PMID:18808722|PMID:18848812|PMID:18955593|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19065538|PMID:19070294|PMID:19100075|PMID:19136169|PMID:19160088|PMID:19165230|PMID:19169982|PMID:19184172|PMID:19187913|PMID:19215240|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19324319|PMID:19352046|PMID:19371231|PMID:19419905|PMID:19443486|PMID:19490267|PMID:19490382|PMID:19668779|PMID:19673885|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20348026|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20876384|PMID:20931094|PMID:20960616|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21130771|PMID:21185499|PMID:21185501|PMID:21215473|PMID:21216356|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21483829|PMID:21490315|PMID:21496174|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21769575|PMID:21779290|PMID:21806934|PMID:21956039|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22314138|PMID:22359612|PMID:22373669|PMID:22378279|PMID:22396785|PMID:22402074|PMID:22402334|PMID:22429796|PMID:22515331|PMID:22573844|PMID:22580281|PMID:22581653|PMID:22617876|PMID:22653970|PMID:22677073|PMID:22727609|PMID:22821100|PMID:22876326|PMID:22882672|PMID:22885918|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23022675|PMID:23098067|PMID:23139254|PMID:23158531|PMID:231588531|PMID:23174487|PMID:23207121|PMID:23300672|PMID:23303164|PMID:23304551|PMID:23316740|PMID:23338923|PMID:23347029|PMID:23465283|PMID:23470493|PMID:23471968|PMID:23546015|PMID:23555008 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:23631430|PMID:23721480|PMID:23861362|PMID:23935525|PMID:23936059|PMID:23980196|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24103226|PMID:24217263|PMID:24223155|PMID:24322056|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24400717|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24679481|PMID:24973560|PMID:25008322|PMID:25028483|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25576780|PMID:25606385|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25809256|PMID:25819988|PMID:25914329|PMID:25923442|PMID:25925977|PMID:25929701|PMID:25967940|PMID:25987402|PMID:26063740|PMID:26066609|PMID:26129877|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26189708|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26403377|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26688388|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26846766|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27153395|PMID:27231019|PMID:27251404|PMID:27379800|PMID:27650965|PMID:27761169|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28087566|PMID:28166811|PMID:28255936|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28492532|PMID:28532774|PMID:28606196|PMID:28704380|PMID:28749435|PMID:28794082|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28988457|PMID:29117522|PMID:29214556|PMID:29247119|PMID:29330128|PMID:29431731|PMID:29497013|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29725305|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29881912|PMID:29884292|PMID:30012873|PMID:30041777|PMID:30086531|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30369311|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30988392|PMID:30996762|PMID:31337358|PMID:31358886|PMID:31493592|PMID:31522018|PMID:31535183|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31737537|PMID:31882846|PMID:32009526|PMID:32048431|PMID:32238909|PMID:32475984|PMID:33258288|PMID:34135346|PMID:5417810|PMID:7889573|PMID:8635257|PMID:8700910|PMID:8799887|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9806971|PMID:9927399 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:24388587|PMID:24400717|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24973560|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25576780|PMID:25606385|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25819988|PMID:25914329|PMID:25925977|PMID:25929701|PMID:25967940|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27153395|PMID:27231019|PMID:27251404|PMID:27379800|PMID:27650965|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28087566|PMID:28255936|PMID:28280240|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28492532|PMID:28532774|PMID:28606196|PMID:28704380|PMID:28749435|PMID:28794082|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28988457|PMID:29117522|PMID:29247119|PMID:29431731|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29725305|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29884292|PMID:29925740|PMID:30012873|PMID:30041777|PMID:30086531|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30369311|PMID:30530868|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31337358|PMID:31358886|PMID:31493592|PMID:31535183|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31696929|PMID:31737537|PMID:31882846|PMID:32009526|PMID:32048431|PMID:32233023|PMID:32238909|PMID:32383558|PMID:32475984|PMID:33258288|PMID:33517668|PMID:34135346|PMID:34309407|PMID:34502138|PMID:5417810|PMID:7889573|PMID:8635257|PMID:8799887|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10508236|PMID:10517660|PMID:10560244|PMID:10690305|PMID:10720411|PMID:10735633|PMID:10744792|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12062363|PMID:12175777|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12442276|PMID:12477631|PMID:12554641|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14714110|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15028050|PMID:15043509|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15242738|PMID:15280442|PMID:15364333|PMID:15466642|PMID:15500450|PMID:15522280|PMID:15545400|PMID:15572050|PMID:15572053|PMID:15599693|PMID:15635208|PMID:15670565|PMID:15699249|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:15851171|PMID:15851228|PMID:15851652|PMID:15913580|PMID:16029385|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16166152|PMID:16199547|PMID:16244680|PMID:16253912|PMID:16253915|PMID:16265869|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16470702|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:16937190|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17438606|PMID:17438609|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17569659|PMID:17576681|PMID:17576861|PMID:17597962|PMID:17823114|PMID:17876385|PMID:17905336|PMID:17908752|PMID:18004376|PMID:18060054|PMID:18093521|PMID:18218237|PMID:18222468|PMID:18222980|PMID:18348270|PMID:18386051|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18675227|PMID:18690032|PMID:18752142|PMID:18776039|PMID:18791070|PMID:18808722|PMID:18848812|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19065538|PMID:19070294|PMID:19100075|PMID:19136169|PMID:19160088|PMID:19165230|PMID:19169982|PMID:19184172|PMID:19187913|PMID:19215240|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19324319|PMID:19352046|PMID:19371231|PMID:19413965|PMID:19419905|PMID:19443486|PMID:19490267|PMID:19490382|PMID:19668779|PMID:19673885|PMID:19694797|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20301308|PMID:20348026|PMID:20486126|PMID:20541041|PMID:20544339|PMID:20659946|PMID:20670193|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20931094|PMID:20960616|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21130771|PMID:21185501|PMID:21215473|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21483829|PMID:21490315|PMID:21496174|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21779290|PMID:21798421|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22314138|PMID:22373669|PMID:22378279|PMID:22396785|PMID:22402334|PMID:22429796|PMID:22515331|PMID:22573844|PMID:22580281|PMID:22581653|PMID:22653970|PMID:22677073|PMID:22727609|PMID:22821100|PMID:22876326|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23098067|PMID:23136156|PMID:23139254|PMID:23158531|PMID:231588531|PMID:23174487|PMID:23300672|PMID:23303164|PMID:23304551|PMID:23316740|PMID:23338923|PMID:23347029|PMID:23382499|PMID:23465283|PMID:23470493 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:23471968|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23890619|PMID:23935525|PMID:23936059|PMID:23975098|PMID:23980196|PMID:23995044|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24103226|PMID:24217263|PMID:24223155|PMID:24291113|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24400717|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24973560|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25576780|PMID:25606385|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25819988|PMID:25914329|PMID:25925977|PMID:25929701|PMID:25967940|PMID:25974115|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27059892|PMID:27064559|PMID:27153395|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27379800|PMID:27492745|PMID:27555138|PMID:27650965|PMID:27711072|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28280240|PMID:28292826|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28491588|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28589536|PMID:28606196|PMID:28704380|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28988457|PMID:29117522|PMID:29192238|PMID:29247119|PMID:29330128|PMID:29331839|PMID:29431731|PMID:29497013|PMID:29544605|PMID:29555771|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29725305|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29884292|PMID:29925740|PMID:29957233|PMID:30012873|PMID:30041777|PMID:30086531|PMID:30123799|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30403391|PMID:30530868|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31320904|PMID:31337358|PMID:31358886|PMID:31493592|PMID:31535183|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31628797|PMID:31696929|PMID:31737537|PMID:31844156|PMID:31882846|PMID:32009526|PMID:32038248|PMID:32048431|PMID:32233023|PMID:32238909|PMID:32311972|PMID:32383558|PMID:32475984|PMID:32659924|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33258288|PMID:33517668|PMID:34002542|PMID:34135346|PMID:34309407|PMID:34426522|PMID:34502138|PMID:34841674|PMID:36197721|PMID:5417810|PMID:7889573|PMID:8635257|PMID:8799887|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10508236|PMID:10517660|PMID:10560244|PMID:10690305|PMID:10720411|PMID:10735633|PMID:10744792|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12062363|PMID:12175777|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12442276|PMID:12477631|PMID:12554641|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14714110|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15028050|PMID:15043509|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15242738|PMID:15280442|PMID:15364333|PMID:15466642|PMID:15500450|PMID:15522280|PMID:15545400|PMID:15572050|PMID:15572053|PMID:15599693|PMID:15635208|PMID:15670565|PMID:15699249|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:15851171|PMID:15851228|PMID:15851652|PMID:15913580|PMID:16029385|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16166152|PMID:16199547|PMID:16244680|PMID:16253912|PMID:16253915|PMID:16265869|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16470702|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:16937190|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17438606|PMID:17438609|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17569659|PMID:17576681|PMID:17576861|PMID:17597962|PMID:17823114|PMID:17876385|PMID:17905336|PMID:17908752|PMID:18004376|PMID:18060054|PMID:18093521|PMID:18218237|PMID:18222468|PMID:18222980|PMID:18348270|PMID:18386051|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18675227|PMID:18690032|PMID:18752142|PMID:18776039|PMID:18791070|PMID:18808722|PMID:18848812|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19065538|PMID:19070294|PMID:19100075|PMID:19136169|PMID:19160088|PMID:19165230|PMID:19169982|PMID:19184172|PMID:19187913|PMID:19215240|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19324319|PMID:19352046|PMID:19371231|PMID:19413965|PMID:19419905|PMID:19443486|PMID:19490267|PMID:19490382|PMID:19668779|PMID:19673885|PMID:19694797|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20301308|PMID:20348026|PMID:20486126|PMID:20541041|PMID:20544339|PMID:20659946|PMID:20670193|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20931094|PMID:20960616|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21130771|PMID:21185501|PMID:21215473|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21483829|PMID:21490315|PMID:21496174|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21779290|PMID:21798421|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22314138|PMID:22373669|PMID:22378279|PMID:22396785|PMID:22402334|PMID:22429796|PMID:22515331|PMID:22573844|PMID:22580281|PMID:22581653|PMID:22653970|PMID:22677073|PMID:22727609|PMID:22764740|PMID:22821100|PMID:22876326|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23098067|PMID:23136156|PMID:23139254|PMID:23158531|PMID:231588531|PMID:23174487|PMID:23300672|PMID:23303164|PMID:23304551|PMID:23316740|PMID:23338923|PMID:23347029|PMID:23382499|PMID:23465283 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:23470493|PMID:23471968|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23890619|PMID:23935525|PMID:23936059|PMID:23975098|PMID:23980196|PMID:23995044|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24103226|PMID:24217263|PMID:24223155|PMID:24291113|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24400717|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24973560|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25576780|PMID:25606385|PMID:25608792|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25819988|PMID:25914329|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:25974115|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27059892|PMID:27064559|PMID:27153395|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27379800|PMID:27492745|PMID:27555138|PMID:27650965|PMID:27711072|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28280240|PMID:28292826|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28491588|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28912206|PMID:28988457|PMID:29016939|PMID:29117522|PMID:29192238|PMID:29247119|PMID:29330128|PMID:29331839|PMID:29431731|PMID:29497013|PMID:29544605|PMID:29555771|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29725305|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29884292|PMID:29925740|PMID:29957233|PMID:30012873|PMID:30041777|PMID:30086531|PMID:30123799|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30403391|PMID:30530868|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31114860|PMID:31320904|PMID:31337358|PMID:31358886|PMID:31448785|PMID:31493592|PMID:31535183|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31628797|PMID:31696929|PMID:31737537|PMID:31844156|PMID:31882846|PMID:32009526|PMID:32038248|PMID:32048431|PMID:32191791|PMID:32233023|PMID:32238909|PMID:32253972|PMID:32311972|PMID:32383558|PMID:32475984|PMID:32659924|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33258288|PMID:33517668|PMID:34002542|PMID:34135346|PMID:34309407|PMID:34426522|PMID:34502138|PMID:34546463|PMID:34841674|PMID:35688147|PMID:36197721|PMID:5417810|PMID:7889573|PMID:8635257|PMID:8799887|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23022675|PMID:23098067|PMID:23136156|PMID:23139254|PMID:23158531|PMID:231588531|PMID:23174487|PMID:23207121|PMID:23300672|PMID:23303164|PMID:23304551|PMID:23316740|PMID:23338923|PMID:23347029|PMID:23351921|PMID:23382499|PMID:23465283|PMID:23470493|PMID:23471968|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23721480|PMID:23861362|PMID:23890619|PMID:23899126|PMID:23935525|PMID:23936059|PMID:23975098|PMID:23980196|PMID:23995044|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24103226|PMID:24217263|PMID:24223155|PMID:24291113|PMID:24322056|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24400717|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24679481|PMID:24725272|PMID:24973560|PMID:25008322|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25140878|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25576780|PMID:25606385|PMID:25608792|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25809256|PMID:25819988|PMID:25914329|PMID:25923442|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:25974115|PMID:25987402|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173150|PMID:26187847|PMID:26213684|PMID:26220970|PMID:26228265|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26403377|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26688388|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26846766|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27059892|PMID:27064559|PMID:27153395|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27379800|PMID:27492745|PMID:27555138|PMID:27650965|PMID:27711072|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28280240|PMID:28292826|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491588|PMID:28492532|PMID:28532774|PMID:28549997|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28912206|PMID:28988457|PMID:29016939|PMID:29117522|PMID:29192238|PMID:29247119|PMID:29330128|PMID:29331839|PMID:29396286|PMID:29431731|PMID:29497013|PMID:29544605|PMID:29555771|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29725305|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29881912|PMID:29884292|PMID:29925740|PMID:29957233|PMID:30012873|PMID:30036649|PMID:30041777|PMID:30086531|PMID:30123799|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30403391|PMID:30481776|PMID:30530868|PMID:30533098|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30770456|PMID:30847666|PMID:30988392|PMID:30996762|PMID:31114860|PMID:31137166|PMID:31320904|PMID:31337358|PMID:31358886|PMID:31448785|PMID:31493592|PMID:31522018|PMID:31535183|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31628797|PMID:31696929|PMID:31737537|PMID:31844156|PMID:31882846|PMID:32009526|PMID:32038248|PMID:32048431|PMID:32145446|PMID:32191791|PMID:32233023|PMID:32238909|PMID:32253972|PMID:32311972|PMID:32383558|PMID:32475984|PMID:32659924|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33258288|PMID:33517668|PMID:34002542|PMID:34135346|PMID:34309407|PMID:34319147|PMID:34426522|PMID:34502138|PMID:34546463|PMID:34716268|PMID:34841674|PMID:35688147|PMID:36197721|PMID:5417810|PMID:7889573|PMID:8635257|PMID:8700910|PMID:8799887|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10508236|PMID:10517660|PMID:10560244|PMID:10690305|PMID:10720411|PMID:10735633|PMID:10744792|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12062363|PMID:12175777|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12442276|PMID:12477631|PMID:12554641|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12771194|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12837749|PMID:12877697|PMID:14642687|PMID:14661677|PMID:14714110|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15028050|PMID:15043509|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15181157|PMID:15242738|PMID:15280442|PMID:15364333|PMID:15466642|PMID:15475579|PMID:15500450|PMID:15522280|PMID:15545400|PMID:15572050|PMID:15572053|PMID:15599693|PMID:15635208|PMID:15670565|PMID:15699249|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:15851171|PMID:15851228|PMID:15851652|PMID:15913580|PMID:16029385|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16166152|PMID:16199547|PMID:16244680|PMID:16253912|PMID:16253915|PMID:16265869|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16470702|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:16923798|PMID:16937190|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17438606|PMID:17438609|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17569659|PMID:17576681|PMID:17576861|PMID:17597962|PMID:17823114|PMID:17876385|PMID:17905336|PMID:17908752|PMID:18004376|PMID:18060054|PMID:18093521|PMID:18218237|PMID:18222468|PMID:18222980|PMID:18348270|PMID:18386051|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18675227|PMID:18690032|PMID:18692916|PMID:18752142|PMID:18776039|PMID:18791070|PMID:18808722|PMID:18848812|PMID:18955593|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19065538|PMID:19070294|PMID:19100075|PMID:19136169|PMID:19139152|PMID:19160088|PMID:19165230|PMID:19169982|PMID:19174314|PMID:19184172|PMID:19187913|PMID:19215240|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19324319|PMID:19340359|PMID:19352046|PMID:19371231|PMID:19413965|PMID:19419905|PMID:19443486|PMID:19490267|PMID:19490382|PMID:19668779|PMID:19673885|PMID:19694797|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20133899|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20301308|PMID:20348026|PMID:20486126|PMID:20541041|PMID:20544339|PMID:20659946|PMID:20670193|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20876384|PMID:20931094|PMID:20950623|PMID:20960616|PMID:20960620|PMID:20975234|PMID:20979233|PMID:21063070|PMID:21109023|PMID:21130771|PMID:21185501|PMID:21215473|PMID:21216356|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21483829|PMID:21490315|PMID:21496174|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21779290|PMID:21798421|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22314138|PMID:22359612|PMID:22373669|PMID:22378279|PMID:22382559|PMID:22396785|PMID:22402074|PMID:22402334|PMID:22407026|PMID:22429796|PMID:22515331|PMID:22573844|PMID:22580281|PMID:22581653|PMID:22584458|PMID:22653970|PMID:22677073|PMID:22727609|PMID:22764740|PMID:22821100|PMID:22876326|PMID:22882672 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23022675|PMID:23098067|PMID:23136156|PMID:23139254|PMID:23158531|PMID:231588531|PMID:23174487|PMID:23207121|PMID:23300672|PMID:23303164|PMID:23304551|PMID:23316740|PMID:23338923|PMID:23347029|PMID:23351921|PMID:23382499|PMID:23465283|PMID:23470493|PMID:23471968|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23721480|PMID:23861362|PMID:23890619|PMID:23899126|PMID:23935525|PMID:23936059|PMID:23975098|PMID:23980196|PMID:23995044|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24103226|PMID:24217263|PMID:24223155|PMID:24291113|PMID:24322056|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24400717|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24679481|PMID:24725272|PMID:24973560|PMID:25008322|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25140878|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25576780|PMID:25606385|PMID:25608792|PMID:25626866|PMID:25637381|PMID:25640679|PMID:25649125|PMID:25741868|PMID:25809256|PMID:25819988|PMID:25914329|PMID:25923442|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:25974115|PMID:25987402|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173150|PMID:26187847|PMID:26213684|PMID:26220970|PMID:26228265|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26403377|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26688388|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26846766|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27059892|PMID:27064559|PMID:27153395|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27379800|PMID:27492745|PMID:27555138|PMID:27650965|PMID:27711072|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28280240|PMID:28292826|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491588|PMID:28492532|PMID:28532774|PMID:28549997|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28912206|PMID:28988457|PMID:29016939|PMID:29117522|PMID:29192238|PMID:29247119|PMID:29255176|PMID:29330128|PMID:29331839|PMID:29396286|PMID:29431731|PMID:29497013|PMID:29544605|PMID:29555771|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29725305|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29881912|PMID:29884292|PMID:29925740|PMID:29957233|PMID:30012873|PMID:30036649|PMID:30041777|PMID:30086531|PMID:30123799|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30403391|PMID:30481776|PMID:30530868|PMID:30533098|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30770456|PMID:30847666|PMID:30988392|PMID:30996762|PMID:31114860|PMID:31137166|PMID:31320904|PMID:31337358|PMID:31358886|PMID:31448785|PMID:31493592|PMID:31522018|PMID:31535183|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31628797|PMID:31696929|PMID:31737537|PMID:31844156|PMID:31882846|PMID:32009526|PMID:32038248|PMID:32048431|PMID:32145446|PMID:32191791|PMID:32233023|PMID:32238909|PMID:32253972|PMID:32311972|PMID:32383558|PMID:32475984|PMID:32508047|PMID:32659924|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33258288|PMID:33517668|PMID:33764691|PMID:34002542|PMID:34135346|PMID:34309407|PMID:34319147|PMID:34426522|PMID:34502138|PMID:34546463|PMID:34712263|PMID:34716268|PMID:34841674|PMID:35688147|PMID:36197721|PMID:36203036|PMID:5417810|PMID:7889573|PMID:8635257|PMID:8700910|PMID:8799887|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:732101 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:10753933|PMID:20301308|PMID:21777565|PMID:25741868|PMID:28280240|PMID:28492532|PMID:31696929|PMID:32233023|PMID:32383558 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:630 genetic disease ISO RGD:732101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10220144|PMID:10753933|PMID:10973849|PMID:11170080|PMID:11222472|PMID:11854117|PMID:12354768|PMID:12566525|PMID:14714110|PMID:14998624|PMID:15120823|PMID:15280442|PMID:15840476|PMID:16253912|PMID:16379539|PMID:16432067|PMID:17088455|PMID:17171344|PMID:17560885|PMID:18386051|PMID:18441445|PMID:18593567|PMID:18808722|PMID:19324319|PMID:19716085|PMID:19841300|PMID:19843919|PMID:19862833|PMID:20197117|PMID:20975234|PMID:21185501|PMID:21367833|PMID:22402334|PMID:22515331|PMID:22581653|PMID:22821100|PMID:22949429|PMID:23158531|PMID:23303164|PMID:23470493|PMID:24606995|PMID:24623279|PMID:25417810|PMID:25741868|PMID:26669661|PMID:27251404|PMID:28492532|PMID:28855170|PMID:30276209|PMID:7889573|PMID:8877771 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:767 muscular atrophy ISO RGD:732101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16723379 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9000059 Long QT Syndrome 2/5 ISO RGD:732101 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2/5, digenic PMID:10973849|PMID:11854117|PMID:15051636|PMID:22581653|PMID:25417810|PMID:25741868 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:732101 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:10187793|PMID:10220144|PMID:10483966|PMID:10753933|PMID:10807545|PMID:10862094|PMID:10973849|PMID:11009462|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668641|PMID:11741928|PMID:11854117|PMID:11997281|PMID:12175777|PMID:12402336|PMID:12621127|PMID:12775564|PMID:12808265|PMID:12829173|PMID:14661677|PMID:14760488|PMID:14975928|PMID:15051636|PMID:15090700|PMID:15176425|PMID:15522280|PMID:15572050|PMID:15599693|PMID:15635208|PMID:15746444|PMID:15840476|PMID:15851119|PMID:15913580|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16166152|PMID:16244680|PMID:16253915|PMID:16414944|PMID:16432067|PMID:16487223|PMID:16720674|PMID:16831322|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17161064|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17531263|PMID:17576681|PMID:17576861|PMID:17597962|PMID:18060054|PMID:18222468|PMID:18222980|PMID:18426444|PMID:18441445|PMID:18596570|PMID:18675227|PMID:18752142|PMID:18776039|PMID:18808722|PMID:19019189|PMID:19038855|PMID:19184172|PMID:19305409|PMID:19322600|PMID:19490267|PMID:19490382|PMID:19673885|PMID:19695459|PMID:19716085|PMID:19804510|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:20167303|PMID:20181576|PMID:20301308|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20674198|PMID:20850565|PMID:20876384|PMID:21063070|PMID:21109023|PMID:21185501|PMID:21215473|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21536673|PMID:21777565|PMID:21779290|PMID:21911102|PMID:22245016|PMID:22359612|PMID:22378279|PMID:22396785|PMID:22402074|PMID:22402334|PMID:22429796|PMID:22581653|PMID:22584458|PMID:22653970|PMID:22677073|PMID:22727609|PMID:22764740|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23304551|PMID:23338923|PMID:23347029|PMID:23465283|PMID:23631430|PMID:23861362|PMID:23890619|PMID:23935525|PMID:23936059|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24217263|PMID:24223155|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24631775|PMID:24667783|PMID:25028483|PMID:25119684|PMID:25294783|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:26063740|PMID:26066609|PMID:26129877|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26669661|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27153395|PMID:27231019|PMID:27711072|PMID:27816319|PMID:27920829|PMID:27930701|PMID:28049825|PMID:28280240|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28492532|PMID:28549997|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28794082|PMID:28798025|PMID:28861002|PMID:28912206|PMID:28988457|PMID:29192238|PMID:29247119|PMID:29255176|PMID:29331839|PMID:29431731|PMID:29544605|PMID:29555771|PMID:29622001|PMID:29650123|PMID:29672598|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29884292|PMID:29925740|PMID:29957233|PMID:30086531|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30403391|PMID:30530868|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31114860|PMID:31337358|PMID:31358886|PMID:31448785|PMID:31493592|PMID:31522018|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31696929|PMID:31737537|PMID:32009526|PMID:32048431|PMID:32145446|PMID:32233023|PMID:32383558|PMID:32475984|PMID:32508047|PMID:32893267|PMID:33258288|PMID:33764691|PMID:34002542|PMID:34135346|PMID:34319147|PMID:34426522|PMID:34502138|PMID:34712263|PMID:35688147|PMID:36197721|PMID:36203036|PMID:9536098|PMID:9927399 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9001790 Long QT Syndrome 1/2 ISO RGD:732101 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1/2, digenic PMID:10086971|PMID:10973849|PMID:16922724|PMID:19862833|PMID:20181576|PMID:21419236|PMID:22581653|PMID:25741868|PMID:27000522|PMID:28492532|PMID:32383558 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:17088455|PMID:19322600|PMID:19841300|PMID:21410720|PMID:22581653|PMID:22677073|PMID:23465283|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24334129|PMID:25637381|PMID:25741868|PMID:26159999|PMID:28492532 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9002081 Long QT Syndrome 2/3 ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2/3, digenic PMID:16922724|PMID:22581653|PMID:25417810 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:732101 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:11997281|PMID:14661677|PMID:14760488|PMID:15840476|PMID:16043162|PMID:16487223|PMID:19841300|PMID:22581653|PMID:22584458|PMID:22949429|PMID:23861362|PMID:24223155|PMID:25417810|PMID:25741868|PMID:27711072|PMID:28492532|PMID:30662450|PMID:34135346 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:732101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16086867 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9003163 Heart Block ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:17088455|PMID:19322600|PMID:19841300|PMID:21410720|PMID:22581653|PMID:22677073|PMID:23465283|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24334129|PMID:25637381|PMID:25741868|PMID:26159999|PMID:28492532 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10086971|PMID:10220144|PMID:10226095|PMID:10483966|PMID:10753933|PMID:10841244|PMID:10862094|PMID:10973849|PMID:11009462|PMID:11113008|PMID:11222472|PMID:11278781|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11741928|PMID:11854117|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12477631|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12775586|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14720170|PMID:14998624|PMID:15051636|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15280442|PMID:15466642|PMID:15840476|PMID:15851119|PMID:15851652|PMID:16155735|PMID:16253912|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17222736|PMID:17224687|PMID:17445409|PMID:17569659|PMID:17905336|PMID:18004376|PMID:18441445|PMID:18468596|PMID:18593567|PMID:18752142|PMID:18808722|PMID:19038855|PMID:19160088|PMID:19169982|PMID:19306396|PMID:19352046|PMID:19490267|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19841300|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20197117|PMID:20348026|PMID:20541041|PMID:20659946|PMID:20960620|PMID:21063070|PMID:21185501|PMID:21244686|PMID:21350584|PMID:21367833|PMID:21440677|PMID:21490315|PMID:21573751|PMID:21737021|PMID:22245016|PMID:22402334|PMID:22581653|PMID:22727609|PMID:22949429|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23316740|PMID:23338923|PMID:23470493|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23936059|PMID:24021552|PMID:24033266|PMID:24217263|PMID:24363352|PMID:24606995|PMID:24623279|PMID:24973560|PMID:25158096|PMID:25254353|PMID:25348405|PMID:25417810|PMID:25576780|PMID:25637381|PMID:25741868|PMID:25925977|PMID:25967940|PMID:26063740|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26496715|PMID:26669661|PMID:26704558|PMID:26746457|PMID:26847485|PMID:26958806|PMID:27000522|PMID:27041096|PMID:27231019|PMID:27251404|PMID:27803431|PMID:27871843|PMID:28082916|PMID:28349240|PMID:28431243|PMID:28492532|PMID:28532774|PMID:28794082|PMID:28855170|PMID:28988457|PMID:29247119|PMID:29431731|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29752375|PMID:29884292|PMID:30246897|PMID:30291343|PMID:30369311|PMID:30704477|PMID:30847666|PMID:31358886|PMID:31557540|PMID:32048431|PMID:32475984|PMID:7889573|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9544837|PMID:9694858|PMID:9927399 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:732101 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10226095|PMID:10483966|PMID:10753933|PMID:10841244|PMID:10862094|PMID:10973849|PMID:11009462|PMID:11113008|PMID:11222472|PMID:11278781|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11741928|PMID:11854117|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12477631|PMID:12566525|PMID:12690509|PMID:12775586|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14720170|PMID:14998624|PMID:15051636|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15280442|PMID:15466642|PMID:15670565|PMID:15840476|PMID:15851119|PMID:15851652|PMID:16155735|PMID:16253912|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17222736|PMID:17224687|PMID:17445409|PMID:17569659|PMID:17905336|PMID:18004376|PMID:18441445|PMID:18468596|PMID:18593567|PMID:18752142|PMID:18808722|PMID:19038855|PMID:19160088|PMID:19169982|PMID:19306396|PMID:19352046|PMID:19419905|PMID:19490267|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19841300|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20197117|PMID:20348026|PMID:20541041|PMID:20659946|PMID:20960620|PMID:21063070|PMID:21185501|PMID:21244686|PMID:21350584|PMID:21367833|PMID:21440677|PMID:21490315|PMID:21536673|PMID:21573751|PMID:21737021|PMID:22245016|PMID:22396785|PMID:22402334|PMID:22573844|PMID:22581653|PMID:22727609|PMID:22949429|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23316740|PMID:23338923|PMID:23470493|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23936059|PMID:24021552|PMID:24033266|PMID:24217263|PMID:24363352|PMID:24606995|PMID:24623279|PMID:24973560|PMID:25158096|PMID:25254353|PMID:25417810|PMID:25576780|PMID:25637381|PMID:25741868|PMID:25925977|PMID:25967940|PMID:26063740|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26496715|PMID:26669661|PMID:26704558|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26958806|PMID:27000522|PMID:27041096|PMID:27231019|PMID:27251404|PMID:27803431|PMID:27871843|PMID:28082916|PMID:28349240|PMID:28431243|PMID:28492532|PMID:28532774|PMID:28794082|PMID:28855170|PMID:28988457|PMID:29247119|PMID:29431731|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29752375|PMID:29884292|PMID:30246897|PMID:30291343|PMID:30369311|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31358886|PMID:31557540|PMID:31737537|PMID:32048431|PMID:32475984|PMID:34502138|PMID:7889573|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9544837|PMID:9694858|PMID:9927399 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:732101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10226095|PMID:10483966|PMID:10560244|PMID:10690305|PMID:10753933|PMID:10841244|PMID:10862094|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11741928|PMID:11854117|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12477631|PMID:12566525|PMID:12690509|PMID:12741719|PMID:12775586|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14720170|PMID:14998624|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15242738|PMID:15280442|PMID:15466642|PMID:15500450|PMID:15545400|PMID:15635208|PMID:15840476|PMID:15851119|PMID:15851652|PMID:16155735|PMID:16244680|PMID:16253912|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17445409|PMID:17569659|PMID:17905336|PMID:18004376|PMID:18093521|PMID:18222468|PMID:18386051|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18593567|PMID:18752142|PMID:18791070|PMID:18808722|PMID:19038855|PMID:19057127|PMID:19070294|PMID:19160088|PMID:19169982|PMID:19306396|PMID:19352046|PMID:19490267|PMID:19694797|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20197117|PMID:20301308|PMID:20348026|PMID:20541041|PMID:20544339|PMID:20659946|PMID:20670193|PMID:20833965|PMID:20850565|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21185501|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21440677|PMID:21490315|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22245016|PMID:22378279|PMID:22396785|PMID:22402334|PMID:22581653|PMID:22653970|PMID:22727609|PMID:22821100|PMID:22876326|PMID:22885918|PMID:22927196|PMID:22949429|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23316740|PMID:23338923|PMID:23465283|PMID:23470493|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23936059|PMID:23975098|PMID:23995044|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24217263|PMID:24363352|PMID:24606995|PMID:24623279|PMID:24973560|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25417810|PMID:25576780|PMID:25608792|PMID:25637381|PMID:25741868|PMID:25819988|PMID:25925977|PMID:25967940|PMID:26063740|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27041096|PMID:27059892|PMID:27064559|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27492745|PMID:27555138|PMID:27803431|PMID:27871843|PMID:27920829|PMID:28082916|PMID:28292826|PMID:28349240|PMID:28431243|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28794082|PMID:28798025|PMID:28855170|PMID:28861002|PMID:28988457|PMID:29247119|PMID:29330128|PMID:29331839|PMID:29431731|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29752375|PMID:29884292|PMID:29957233|PMID:30012873|PMID:30123799|PMID:30246897|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30704477|PMID:30847666|PMID:31358886|PMID:31493592|PMID:31557540|PMID:31628797|PMID:31737537|PMID:31844156|PMID:32038248|PMID:32048431|PMID:32311972|PMID:32383558|PMID:32475984|PMID:32893267|PMID:32940533|PMID:33198487|PMID:34002542|PMID:34502138|PMID:7889573|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:732101 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10226095|PMID:10483966|PMID:10560244|PMID:10690305|PMID:10753933|PMID:10841244|PMID:10862094|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11741928|PMID:11854117|PMID:11997281|PMID:12062363|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12477631|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12775586|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14720170|PMID:14760488|PMID:14998624|PMID:15043509|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15242738|PMID:15280442|PMID:15466642|PMID:15500450|PMID:15545400|PMID:15635208|PMID:15840476|PMID:15851119|PMID:15851652|PMID:16155735|PMID:16244680|PMID:16253912|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17445409|PMID:17569659|PMID:17823114|PMID:17905336|PMID:18004376|PMID:18093521|PMID:18222468|PMID:18386051|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18593567|PMID:18675227|PMID:18752142|PMID:18791070|PMID:18808722|PMID:18955593|PMID:19038855|PMID:19057127|PMID:19070294|PMID:19160088|PMID:19169982|PMID:19306396|PMID:19352046|PMID:19371231|PMID:19490267|PMID:19694797|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20197117|PMID:20301308|PMID:20348026|PMID:20541041|PMID:20544339|PMID:20659946|PMID:20670193|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20950623|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21185501|PMID:21216356|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21440677|PMID:21490315|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22245016|PMID:22378279|PMID:22396785|PMID:22402334|PMID:22581653|PMID:22584458|PMID:22653970|PMID:22727609|PMID:22821100|PMID:22876326|PMID:22885918|PMID:22927196|PMID:22949429|PMID:23022675|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23316740|PMID:23338923|PMID:23465283|PMID:23470493|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23936059|PMID:23975098|PMID:23995044|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24217263|PMID:24223155|PMID:24363352|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24973560|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25417810|PMID:25576780|PMID:25608792|PMID:25637381|PMID:25741868|PMID:25819988|PMID:25925977|PMID:25967940|PMID:26063740|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27041096|PMID:27059892|PMID:27064559|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27492745|PMID:27555138|PMID:27803431|PMID:27871843|PMID:27920829|PMID:28082916|PMID:28292826|PMID:28349240|PMID:28431243|PMID:28449774|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28794082|PMID:28798025|PMID:28855170|PMID:28861002|PMID:28988457|PMID:29247119|PMID:29330128|PMID:29331839|PMID:29431731|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29752375|PMID:29766885|PMID:29884292|PMID:29957233|PMID:30012873|PMID:30123799|PMID:30246897|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31358886|PMID:31493592|PMID:31557540|PMID:31628797|PMID:31737537|PMID:31844156|PMID:32038248|PMID:32048431|PMID:32311972|PMID:32383558|PMID:32475984|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33258288|PMID:34002542|PMID:34135346|PMID:34426522|PMID:34502138|PMID:34712263|PMID:36203036 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:732101 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:7889573|PMID:8700910|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9005444 Torsades de Pointes ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Torsades de pointes PMID:11468227|PMID:12775564|PMID:14661677|PMID:14975928|PMID:15522280|PMID:16487223|PMID:17161064|PMID:17210839|PMID:17275752|PMID:19019189|PMID:19673885|PMID:19841300|PMID:20167303|PMID:22581653|PMID:23303164|PMID:23861362|PMID:24596401|PMID:25741868|PMID:26467025|PMID:26746457|PMID:27153395|PMID:28472724|PMID:28492532|PMID:29752375|PMID:29759541 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9005764 Short QT Syndrome 1 ISO RGD:732101 D RGD:7240710 20180130 OMIM 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9005764 Short QT Syndrome 1 ISO RGD:732101 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 1 PMID:10187793|PMID:10220144|PMID:10483966|PMID:10753933|PMID:10807545|PMID:10862094|PMID:10973849|PMID:11173780|PMID:11222472|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11854117|PMID:11997281|PMID:12402336|PMID:12566525|PMID:12808265|PMID:12829173|PMID:12925462|PMID:14661677|PMID:14676148|PMID:14720170|PMID:14760488|PMID:14998624|PMID:15051636|PMID:15176425|PMID:15466642|PMID:15599693|PMID:15670565|PMID:15828882|PMID:15840476|PMID:15913580|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16244680|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16487223|PMID:16754261|PMID:16818214|PMID:16922724|PMID:17161064|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17576681|PMID:17905336|PMID:18060054|PMID:18222468|PMID:18222980|PMID:18441445|PMID:18675227|PMID:18690032|PMID:18752142|PMID:18776039|PMID:18808722|PMID:19088443|PMID:19160088|PMID:19419905|PMID:19439805|PMID:19490267|PMID:19501051|PMID:19673885|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:20301308|PMID:20541041|PMID:20659946|PMID:20850565|PMID:20851114|PMID:21350584|PMID:21536673|PMID:21777565|PMID:21911102|PMID:21956039|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22194679|PMID:22378279|PMID:22396785|PMID:22402334|PMID:22429796|PMID:22573844|PMID:22581653|PMID:22677073|PMID:22764740|PMID:22882672|PMID:2294929|PMID:22949429|PMID:23098067|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23338923|PMID:23465283|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24388587|PMID:24606995|PMID:24631775|PMID:24973560|PMID:25140878|PMID:25348405|PMID:25417810|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25925977|PMID:25947924|PMID:25967940|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26164358|PMID:26187847|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26704558|PMID:26743238|PMID:26746457|PMID:26958806|PMID:27000522|PMID:27041096|PMID:27650965|PMID:27711072|PMID:27816319|PMID:27920829|PMID:28003625|PMID:28255936|PMID:28280240|PMID:28431243|PMID:28449774|PMID:28492532|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28807990|PMID:28861002|PMID:28988457|PMID:29016939|PMID:29192238|PMID:29247119|PMID:29255176|PMID:29331839|PMID:29544605|PMID:29622001|PMID:29672598|PMID:29727688|PMID:29752375|PMID:29766885|PMID:29884292|PMID:29925740|PMID:30086531|PMID:30246897|PMID:30327538|PMID:30369311|PMID:30530868|PMID:30615648|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31114860|PMID:31337358|PMID:31358886|PMID:31493592|PMID:31539150|PMID:31557540|PMID:31618753|PMID:31696929|PMID:31737537|PMID:32048431|PMID:32233023|PMID:32383558|PMID:32475984|PMID:32508047|PMID:32659924|PMID:32893267|PMID:33517668|PMID:33764691|PMID:34002542|PMID:34309407|PMID:34426522|PMID:34502138|PMID:34712263|PMID:34841674|PMID:35688147|PMID:9536098|PMID:9544837 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9007 sudden infant death syndrome ISO RGD:732101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:15913580|PMID:17210839|PMID:18222468|PMID:18596570|PMID:18675227|PMID:20674198|PMID:21215473|PMID:22581653|PMID:22995991|PMID:23304551|PMID:24223155|PMID:25417810|PMID:25741868|PMID:26129877|PMID:26332594|PMID:27026747|PMID:27930701|PMID:28492532|PMID:29752375|PMID:30369311 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24830940 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9007820 Sudden Death ISO RGD:732101 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:11468227|PMID:12775564|PMID:14661677|PMID:14975928|PMID:15522280|PMID:15840476|PMID:16487223|PMID:17161064|PMID:17210839|PMID:17275752|PMID:19019189|PMID:19673885|PMID:19841300|PMID:20167303|PMID:22581653|PMID:23303164|PMID:23861362|PMID:24596401|PMID:25741868|PMID:26467025|PMID:26746457|PMID:27153395|PMID:28472724|PMID:28492532|PMID:29752375|PMID:29759541 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9007925 Sudden Cardiac Death ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death PMID:18508782|PMID:19716085|PMID:22581653|PMID:25417810|PMID:25741868|PMID:26704558|PMID:28492532|PMID:29725305|PMID:32475984 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:732101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:25741868|PMID:28492532 12421480 KCNH2 potassium voltage-gated channel subfamily H member 2 gene DOID:9970 obesity ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:10753933|PMID:10973849|PMID:11113008|PMID:11468227|PMID:11668638|PMID:11854117|PMID:12354768|PMID:15051636|PMID:15840476|PMID:16432067|PMID:17160940|PMID:17445409|PMID:18441445|PMID:18593567|PMID:19716085|PMID:19841300|PMID:22581653|PMID:22949429|PMID:23303164|PMID:24606995|PMID:24623279|PMID:25741868|PMID:26847485|PMID:28492532|PMID:29672598|PMID:30246897|PMID:7889573|PMID:9024139|PMID:9927399 12421499 ZDHHC2 zinc finger DHHC-type palmitoyltransferase 2 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:736613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 12421499 ZDHHC2 zinc finger DHHC-type palmitoyltransferase 2 gene DOID:630 genetic disease ISO RGD:736613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12421499 ZDHHC2 zinc finger DHHC-type palmitoyltransferase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12421499 ZDHHC2 zinc finger DHHC-type palmitoyltransferase 2 gene DOID:9004657 Weight Gain ISO RGD:736613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12421499 ZDHHC2 zinc finger DHHC-type palmitoyltransferase 2 gene DOID:9007188 Liver Neoplasms ISO RGD:736613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030|PMID:28108177 12421525 PDCD11 programmed cell death 11 gene DOID:630 genetic disease ISO RGD:1354347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12421565 CEP152 centrosomal protein 152 gene DOID:0050569 Seckel syndrome ISO RGD:1604825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome PMID:24033266|PMID:25741868 12421565 CEP152 centrosomal protein 152 gene DOID:0070007 Seckel syndrome 1 ISO RGD:1604825 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21131973 12421565 CEP152 centrosomal protein 152 gene DOID:0070012 Seckel syndrome 5 ISO RGD:1604825 D RGD:7240710 20180130 OMIM 12421565 CEP152 centrosomal protein 152 gene DOID:0070012 Seckel syndrome 5 ISO RGD:1604825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CEP152-Related Disorders | ClinVar Annotator: match by term: Seckel syndrome 5 PMID:17576681|PMID:18414213|PMID:20598275|PMID:21131973|PMID:25741868|PMID:25996639|PMID:28492532|PMID:9536098 12421565 CEP152 centrosomal protein 152 gene DOID:0070292 primary autosomal recessive microcephaly 9 ISO RGD:1604825 D RGD:7240710 20180130 OMIM 12421565 CEP152 centrosomal protein 152 gene DOID:0070292 primary autosomal recessive microcephaly 9 ISO RGD:1604825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly 9, primary, autosomal recessive PMID:18414213|PMID:20598275|PMID:21131973|PMID:24033266|PMID:25741868|PMID:25996639|PMID:28492532|PMID:34402213 12421565 CEP152 centrosomal protein 152 gene DOID:10907 microcephaly ISO RGD:1604825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary Microcephaly, Recessive 12421565 CEP152 centrosomal protein 152 gene DOID:14323 Marfan syndrome ISO RGD:1604825 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:17492313|PMID:17657824|PMID:19293843|PMID:28492532 12421565 CEP152 centrosomal protein 152 gene DOID:2717 Bloom syndrome ISO RGD:1604825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12421565 CEP152 centrosomal protein 152 gene DOID:630 genetic disease ISO RGD:1604825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 12421565 CEP152 centrosomal protein 152 gene DOID:9256 colorectal cancer ISO RGD:1604825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12421627 PDIA5 protein disulfide isomerase family A member 5 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1605694 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 12421627 PDIA5 protein disulfide isomerase family A member 5 gene DOID:0080600 COVID-19 ISO RGD:1605694 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12421627 PDIA5 protein disulfide isomerase family A member 5 gene DOID:630 genetic disease ISO RGD:1605694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12421627 PDIA5 protein disulfide isomerase family A member 5 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1605694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 12421627 PDIA5 protein disulfide isomerase family A member 5 gene DOID:9270 alkaptonuria ISO RGD:1605694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12421648 ATXN3 ataxin 3 gene DOID:0080054 achondrogenesis type IA ISO RGD:1606333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12421648 ATXN3 ataxin 3 gene DOID:1440 Machado-Joseph disease ISO RGD:1606333 D RGD:7240710 20180130 OMIM 12421648 ATXN3 ataxin 3 gene DOID:1440 Machado-Joseph disease ISO RGD:1606333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azorean disease 12421648 ATXN3 ataxin 3 gene DOID:1440 Machado-Joseph disease susceptibility ISO RGD:1606333 D RGD:9068941 20200609 RGD PMID:7874163|REF_RGD_ID:1599419 12421648 ATXN3 ataxin 3 gene DOID:1440 Machado-Joseph disease treatment ISO RGD:1606333 D RGD:9068941 20200609 RGD PMID:20308049|REF_RGD_ID:11557997 12421648 ATXN3 ataxin 3 gene DOID:630 genetic disease ISO RGD:1606333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12421648 ATXN3 ataxin 3 gene DOID:9002695 Cataplexy ISO RGD:1606333 D RGD:9068941 20200609 RGD PMID:15128861|REF_RGD_ID:1358427 12421648 ATXN3 ataxin 3 gene DOID:9002955 Nerve Degeneration ISO RGD:1606333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9635424 12421674 SEMA6A semaphorin 6A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313551 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12421674 SEMA6A semaphorin 6A gene DOID:12849 autistic disorder ISO RGD:1313551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12421674 SEMA6A semaphorin 6A gene DOID:630 genetic disease ISO RGD:1313551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12421674 SEMA6A semaphorin 6A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12421674 SEMA6A semaphorin 6A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313551 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12421705 TSNARE1 t-SNARE domain containing 1 gene DOID:630 genetic disease ISO RGD:1606429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12421768 AVL9 AVL9 cell migration associated gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12421768 AVL9 AVL9 cell migration associated gene DOID:630 genetic disease ISO RGD:1604629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12421768 AVL9 AVL9 cell migration associated gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1604629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12421787 ZC3H8 zinc finger CCCH-type containing 8 gene DOID:630 genetic disease ISO RGD:1321369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12421811 RORC RAR related orphan receptor C gene DOID:0050628 advanced sleep phase syndrome ISO RGD:1317896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25395965 12421811 RORC RAR related orphan receptor C gene DOID:0111940 immunodeficiency 42 ISO RGD:1317896 D RGD:7240710 20180130 OMIM 12421811 RORC RAR related orphan receptor C gene DOID:0111940 immunodeficiency 42 ISO RGD:1317896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:16199547|PMID:25741868|PMID:26160376|PMID:28492532 12421811 RORC RAR related orphan receptor C gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1317896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12421811 RORC RAR related orphan receptor C gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1317896 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12421811 RORC RAR related orphan receptor C gene DOID:12894 Sjogren's syndrome ISO RGD:1317897 D RGD:9068941 20220825 MouseDO OMIM:270150 12421811 RORC RAR related orphan receptor C gene DOID:1540 parathyroid carcinoma ISO RGD:1317896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12421811 RORC RAR related orphan receptor C gene DOID:5812 MHC class II deficiency ISO RGD:1317896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12421811 RORC RAR related orphan receptor C gene DOID:630 genetic disease ISO RGD:1317896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12421811 RORC RAR related orphan receptor C gene DOID:874 bacterial pneumonia severity ISO RGD:1317897 D RGD:9068941 20200820 RGD PMID:25398094|REF_RGD_ID:38501102 12421811 RORC RAR related orphan receptor C gene DOID:9002311 Experimental Autoimmune Myocarditis severity ISO RGD:1595785 D RGD:9068941 20200903 RGD PMID:28892130|REF_RGD_ID:38549573 12421811 RORC RAR related orphan receptor C gene DOID:9005106 Animal Toxoplasmosis ISO RGD:1317897 D RGD:9068941 20200820 RGD mRNA:increased expression:placenta: PMID:21923716|REF_RGD_ID:38501105 12421811 RORC RAR related orphan receptor C gene DOID:9005372 Inflammation ISO RGD:1317896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22325453 12421811 RORC RAR related orphan receptor C gene DOID:9007204 Dysbiosis treatment ISO RGD:1595785 D RGD:9068941 20200903 RGD PMID:32227764|REF_RGD_ID:38549571 12421811 RORC RAR related orphan receptor C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12421831 ZNF662 zinc finger protein 662 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1602806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 12421831 ZNF662 zinc finger protein 662 gene DOID:630 genetic disease ISO RGD:1602806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12421854 PGAM5 PGAM family member 5, mitochondrial serine/threonine protein phosphatase gene DOID:630 genetic disease ISO RGD:1604217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12421854 PGAM5 PGAM family member 5, mitochondrial serine/threonine protein phosphatase gene DOID:9256 colorectal cancer ISO RGD:1604217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 12421870 CCDC191 coiled-coil domain containing 191 gene DOID:630 genetic disease ISO RGD:1350923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12421900 C1QTNF2 C1q and TNF related 2 gene DOID:630 genetic disease ISO RGD:1348725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12421910 KIF1C kinesin family member 1C gene DOID:0050753 cerebellar ataxia ISO RGD:731799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:32581362 12421910 KIF1C kinesin family member 1C gene DOID:0050941 spastic ataxia 2 ISO RGD:731799 D RGD:7240710 20180130 OMIM 12421910 KIF1C kinesin family member 1C gene DOID:0050941 spastic ataxia 2 ISO RGD:731799 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:17273843|PMID:17576681|PMID:24319291|PMID:24482476|PMID:24808017|PMID:25741868|PMID:26633545|PMID:28492532|PMID:28687974|PMID:28832565|PMID:29482223|PMID:30067756|PMID:32501971|PMID:9536098 12421910 KIF1C kinesin family member 1C gene DOID:0050952 spastic ataxia ISO RGD:731799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 12421910 KIF1C kinesin family member 1C gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:731799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 12421910 KIF1C kinesin family member 1C gene DOID:1059 intellectual disability ISO RGD:731799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:32581362 12421910 KIF1C kinesin family member 1C gene DOID:10907 microcephaly ISO RGD:731799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12421910 KIF1C kinesin family member 1C gene DOID:2476 hereditary spastic paraplegia ISO RGD:731799 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17576681|PMID:24482476|PMID:25741868|PMID:26633545|PMID:28492532|PMID:28832565|PMID:29482223|PMID:9536098 12421910 KIF1C kinesin family member 1C gene DOID:630 genetic disease ISO RGD:731799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12421937 NFAT5 nuclear factor of activated T cells 5 gene DOID:0060031 autoimmune disease of gastrointestinal tract ISO RGD:1319318 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Immunodeficiency and Autoimmune Enterocolopathy PMID:28492532 12421937 NFAT5 nuclear factor of activated T cells 5 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1319318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12421937 NFAT5 nuclear factor of activated T cells 5 gene DOID:630 genetic disease ISO RGD:1319318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12421961 MAP3K14 mitogen-activated protein kinase kinase kinase 14 gene DOID:12236 primary biliary cholangitis ISO RGD:1321417 D RGD:9068941 20220825 MouseDO OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 12421961 MAP3K14 mitogen-activated protein kinase kinase kinase 14 gene DOID:12894 Sjogren's syndrome ISO RGD:1321417 D RGD:9068941 20220825 MouseDO OMIM:270150 12421961 MAP3K14 mitogen-activated protein kinase kinase kinase 14 gene DOID:630 genetic disease ISO RGD:1321416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12421987 BNIP3 BCL2 interacting protein 3 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1350913 D RGD:9068941 20200609 RGD PMID:14648660|REF_RGD_ID:7483575 12421987 BNIP3 BCL2 interacting protein 3 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1350913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 12421987 BNIP3 BCL2 interacting protein 3 gene DOID:224 transient cerebral ischemia ISO RGD:620800 D RGD:9068941 20200609 RGD PMID:14972662|REF_RGD_ID:2314028 12421987 BNIP3 BCL2 interacting protein 3 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:620800 D RGD:9068941 20200609 RGD PMID:25888379|REF_RGD_ID:11561985 12421987 BNIP3 BCL2 interacting protein 3 gene DOID:3525 middle cerebral artery infarction ISO RGD:620800 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17379825|REF_RGD_ID:9685412 12421987 BNIP3 BCL2 interacting protein 3 gene DOID:5327 retinal detachment ISO RGD:620800 D RGD:9068941 20200609 RGD PMID:26093278|REF_RGD_ID:11561987 12421987 BNIP3 BCL2 interacting protein 3 gene DOID:5327 retinal detachment ISO RGD:733814 D RGD:9068941 20200609 RGD PMID:26093278|REF_RGD_ID:11561987 12421987 BNIP3 BCL2 interacting protein 3 gene DOID:5844 myocardial infarction ISO RGD:620800 D RGD:9068941 20200609 RGD mRNA:increased expression:plantaris PMID:24427319|REF_RGD_ID:11557988 12421987 BNIP3 BCL2 interacting protein 3 gene DOID:6000 congestive heart failure treatment ISO RGD:620800 D RGD:9068941 20200609 RGD PMID:23508759|REF_RGD_ID:11561982 12421987 BNIP3 BCL2 interacting protein 3 gene DOID:630 genetic disease ISO RGD:1350913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12421987 BNIP3 BCL2 interacting protein 3 gene DOID:783 end stage renal disease ISO RGD:620800 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:24090408|REF_RGD_ID:11561926 12421987 BNIP3 BCL2 interacting protein 3 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1350913 D RGD:9068941 20200609 RGD protein:increased expression:ileum PMID:16002567|REF_RGD_ID:11561971 12421987 BNIP3 BCL2 interacting protein 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620800 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:23637053|REF_RGD_ID:11564330 12421987 BNIP3 BCL2 interacting protein 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1350913 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12421987 BNIP3 BCL2 interacting protein 3 gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:620800 D RGD:9068941 20200609 RGD PMID:24990154|REF_RGD_ID:11561988 12421987 BNIP3 BCL2 interacting protein 3 gene DOID:9000304 Manganese Poisoning ISO RGD:1350913 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19442826 12421987 BNIP3 BCL2 interacting protein 3 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:620800 D RGD:9068941 20200609 RGD PMID:23850688|REF_RGD_ID:11561986 12421987 BNIP3 BCL2 interacting protein 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350913 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18163427 12421987 BNIP3 BCL2 interacting protein 3 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:620800 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:23698117|REF_RGD_ID:11561968 12421987 BNIP3 BCL2 interacting protein 3 gene DOID:9007480 Hyperoxia ISO RGD:620800 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:20157446|REF_RGD_ID:5128796 12421987 BNIP3 BCL2 interacting protein 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620800 D RGD:9068941 20220930 RGD protein:decreased expression:myocardium (human) PMID:28661226|REF_RGD_ID:155260328 12421987 BNIP3 BCL2 interacting protein 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:620800 D RGD:9068941 20200609 RGD PMID:16645637|REF_RGD_ID:11561983 12421987 BNIP3 BCL2 interacting protein 3 gene DOID:9008217 Hemorrhage ISO RGD:620800 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:21193900|REF_RGD_ID:11564331 12421987 BNIP3 BCL2 interacting protein 3 gene DOID:9538 multiple myeloma ISO RGD:1350913 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18172295 12421987 BNIP3 BCL2 interacting protein 3 gene DOID:9970 obesity ISO RGD:620800 D RGD:9068941 20200609 RGD PMID:18070754|REF_RGD_ID:2292682 12421997 AIF1L allograft inflammatory factor 1 like gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1312901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12421997 AIF1L allograft inflammatory factor 1 like gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1312901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 12421997 AIF1L allograft inflammatory factor 1 like gene DOID:1612 breast cancer severity ISO RGD:1312901 D RGD:9068941 20200609 RGD PMID:30233209|REF_RGD_ID:13842475 12421997 AIF1L allograft inflammatory factor 1 like gene DOID:630 genetic disease ISO RGD:1312901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12422017 TMEM117 transmembrane protein 117 gene DOID:13580 cholestasis ISO RGD:1604277 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12422017 TMEM117 transmembrane protein 117 gene DOID:630 genetic disease ISO RGD:1604277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12422017 TMEM117 transmembrane protein 117 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604277 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 12422035 ARFRP1 ADP ribosylation factor related protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:732355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12422035 ARFRP1 ADP ribosylation factor related protein 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:732355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12422035 ARFRP1 ADP ribosylation factor related protein 1 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:732355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 12422035 ARFRP1 ADP ribosylation factor related protein 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:732355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12422035 ARFRP1 ADP ribosylation factor related protein 1 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:732355 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12422035 ARFRP1 ADP ribosylation factor related protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:732355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12422035 ARFRP1 ADP ribosylation factor related protein 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:732355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12422035 ARFRP1 ADP ribosylation factor related protein 1 gene DOID:630 genetic disease ISO RGD:732355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12422046 SHROOM4 shroom family member 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12422046 SHROOM4 shroom family member 4 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1606521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 12422046 SHROOM4 shroom family member 4 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1606521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12422046 SHROOM4 shroom family member 4 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1606521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12422046 SHROOM4 shroom family member 4 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1606521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12422046 SHROOM4 shroom family member 4 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1606521 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:12673656|PMID:16249884|PMID:18414213|PMID:23757202|PMID:23871722|PMID:25670966|PMID:25741868|PMID:26740508|PMID:36209347 12422046 SHROOM4 shroom family member 4 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1606521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12422046 SHROOM4 shroom family member 4 gene DOID:1059 intellectual disability ISO RGD:1606521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25741868 12422046 SHROOM4 shroom family member 4 gene DOID:12849 autistic disorder ISO RGD:1606521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12422046 SHROOM4 shroom family member 4 gene DOID:630 genetic disease ISO RGD:1606521 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:23757202|PMID:25741868|PMID:28492532 12422072 DLEC1 DLEC1 cilia and flagella associated protein gene DOID:0050451 Brugada syndrome ISO RGD:1604836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 12422072 DLEC1 DLEC1 cilia and flagella associated protein gene DOID:5041 esophageal cancer ISO RGD:1604836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophagus cancer PMID:25741868 12422072 DLEC1 DLEC1 cilia and flagella associated protein gene DOID:630 genetic disease ISO RGD:1604836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12422072 DLEC1 DLEC1 cilia and flagella associated protein gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1604836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 12422072 DLEC1 DLEC1 cilia and flagella associated protein gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1604836 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:27168825|REF_RGD_ID:11252164 12422135 MIR148B microRNA mir-148b gene DOID:10534 stomach cancer disease_progression ISO RGD:1351245 D RGD:9068941 20221222 RGD PMID:29587866|REF_RGD_ID:155791564 12422135 MIR148B microRNA mir-148b gene DOID:9000965 Neoplasm Metastasis ISO RGD:1351245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 12422135 MIR148B microRNA mir-148b gene DOID:9004009 Reperfusion Injury ISO RGD:1351245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30308185 12422135 MIR148B microRNA mir-148b gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12422135 MIR148B microRNA mir-148b gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1351245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 12422135 MIR148B microRNA mir-148b gene DOID:9006618 Liver Metastasis exacerbates ISO RGD:1351245 D RGD:9068941 20221222 RGD associated with stomach cancer; PMID:29587866|REF_RGD_ID:155791564 12422135 MIR148B microRNA mir-148b gene DOID:9256 colorectal cancer ISO RGD:1351245 D RGD:9068941 20220811 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12422135 MIR148B microRNA mir-148b gene DOID:9452 fatty liver disease ISO RGD:1351245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12422193 MCPH1 microcephalin 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1349111 D RGD:9068941 20200609 RGD mRNA:protein:decreased expression:oral cavity, tissue (human) PMID:23472065|REF_RGD_ID:9589036 12422193 MCPH1 microcephalin 1 gene DOID:0070285 primary autosomal recessive microcephaly 1 ISO RGD:1349111 D RGD:7240710 20180130 OMIM 12422193 MCPH1 microcephalin 1 gene DOID:0070285 primary autosomal recessive microcephaly 1 ISO RGD:1349111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:11857108|PMID:12046007|PMID:15199523|PMID:16199547|PMID:16311745|PMID:16783362|PMID:18414213|PMID:20101680|PMID:20301772|PMID:20949544|PMID:20978018|PMID:22139841|PMID:22154951|PMID:22908299|PMID:23281133|PMID:25741868|PMID:26467025|PMID:26539891|PMID:28492532|PMID:32714618|PMID:34402213|PMID:7693575 12422193 MCPH1 microcephalin 1 gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:1349111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary microcephaly PMID:25741868|PMID:28492532 12422193 MCPH1 microcephalin 1 gene DOID:1059 intellectual disability ISO RGD:1349111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20949544|PMID:25741868|PMID:26467025|PMID:28492532 12422193 MCPH1 microcephalin 1 gene DOID:10907 microcephaly ISO RGD:1349111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive PMID:25741868 12422193 MCPH1 microcephalin 1 gene DOID:10907 microcephaly no_association ISO RGD:1349111 D RGD:9068941 20200609 RGD DNA:SNP: :c.940G>C (g.37995G>C) (human) PMID:19267414|REF_RGD_ID:13204744 12422193 MCPH1 microcephalin 1 gene DOID:1380 endometrial cancer ISO RGD:1349111 D RGD:9068941 20200609 RGD DNA:deletions:exons:multiple (human) PMID:20638839|REF_RGD_ID:9589018 12422193 MCPH1 microcephalin 1 gene DOID:1612 breast cancer severity ISO RGD:1349111 D RGD:9068941 20200609 RGD DNA:silent mutation, missense mutation:cds:p.S742, p.A761V (rs2912010, rs1057090) (human) PMID:23296058|REF_RGD_ID:9589038 12422193 MCPH1 microcephalin 1 gene DOID:4451 renal carcinoma ISO RGD:1349111 D RGD:9068941 20200609 RGD protein:decreased expression:kidney (human) PMID:25197360|REF_RGD_ID:9589037 12422193 MCPH1 microcephalin 1 gene DOID:630 genetic disease ISO RGD:1349111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 12422193 MCPH1 microcephalin 1 gene DOID:9000037 Lymphatic Malformation 10 ISO RGD:1349111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 10 PMID:32908006 12422193 MCPH1 microcephalin 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1349111 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary (human) PMID:16872911|REF_RGD_ID:9589035 12422193 MCPH1 microcephalin 1 gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:1349111 D RGD:9068941 20200609 RGD protein:decreased expression:ovary, nucleus PMID:24830737|REF_RGD_ID:13204746 12422193 MCPH1 microcephalin 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1349111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12422193 MCPH1 microcephalin 1 gene DOID:9007661 Dwarfism ISO RGD:1349111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:26467025|PMID:28492532|PMID:32714618 12422193 MCPH1 microcephalin 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1349111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 12422193 MCPH1 microcephalin 1 gene DOID:9008939 Breast Neoplasms severity ISO RGD:1349111 D RGD:9068941 20200609 RGD protein:decreased expression:breast (human) PMID:20632086|REF_RGD_ID:9589027 12422207 KIF3A kinesin family member 3A gene DOID:0080006 bone development disease ISO RGD:1352051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17698054 12422207 KIF3A kinesin family member 3A gene DOID:0080322 polycystic kidney disease ISO RGD:1552608 D RGD:9068941 20220825 MouseDO 12422207 KIF3A kinesin family member 3A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352051 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12422207 KIF3A kinesin family member 3A gene DOID:0080600 COVID-19 ISO RGD:1352051 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12422207 KIF3A kinesin family member 3A gene DOID:10325 silicosis ISO RGD:1352051 D RGD:9068941 20230105 RGD protein:increased expression:respiratory system fluid/secretion: PMID:32042332|REF_RGD_ID:155791682 12422207 KIF3A kinesin family member 3A gene DOID:10325 silicosis ISO RGD:621536 D RGD:9068941 20230105 RGD protein:decreased expression:lung PMID:32042332|REF_RGD_ID:155791682 12422207 KIF3A kinesin family member 3A gene DOID:1148 polydactyly ISO RGD:1352051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17698054 12422207 KIF3A kinesin family member 3A gene DOID:1934 dysostosis ISO RGD:1552608 D RGD:9068941 20220825 MouseDO 12422207 KIF3A kinesin family member 3A gene DOID:2841 asthma ISO RGD:1352051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21912604 12422207 KIF3A kinesin family member 3A gene DOID:630 genetic disease ISO RGD:1352051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12422207 KIF3A kinesin family member 3A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12422207 KIF3A kinesin family member 3A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352051 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12422207 KIF3A kinesin family member 3A gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1352051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17698054 12422207 KIF3A kinesin family member 3A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12422242 TCP11 t-complex 11 gene DOID:0050553 JMP syndrome ISO RGD:1351114 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12422242 TCP11 t-complex 11 gene DOID:630 genetic disease ISO RGD:1351114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12422264 STK3 serine/threonine kinase 3 gene DOID:0111590 Cohen syndrome ISO RGD:732933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12422264 STK3 serine/threonine kinase 3 gene DOID:630 genetic disease ISO RGD:732933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12422284 CENPC centromere protein C gene DOID:0060218 CREST syndrome ISO RGD:1354407 D RGD:9068941 20200609 RGD associated with Anticentromere antibody positivity PMID:25220385|REF_RGD_ID:27372886 12422284 CENPC centromere protein C gene DOID:5082 liver cirrhosis ISO RGD:1354407 D RGD:9068941 20200609 RGD associated with Anticentromere antibody positivity PMID:25220385|REF_RGD_ID:27372886 12422284 CENPC centromere protein C gene DOID:630 genetic disease ISO RGD:1354407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12422284 CENPC centromere protein C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12422316 EIF6 eukaryotic translation initiation factor 6 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313362 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12422316 EIF6 eukaryotic translation initiation factor 6 gene DOID:630 genetic disease ISO RGD:1313362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12422316 EIF6 eukaryotic translation initiation factor 6 gene DOID:9008939 Breast Neoplasms ISO RGD:1313362 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 12422329 PRELID3B PRELI domain containing 3B gene DOID:630 genetic disease ISO RGD:1345443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12422339 DEPP1 DEPP autophagy regulator 1 gene DOID:0080600 COVID-19 ISO RGD:1352536 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12422339 DEPP1 DEPP autophagy regulator 1 gene DOID:289 endometriosis ISO RGD:1352536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12422339 DEPP1 DEPP autophagy regulator 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1352536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 12422339 DEPP1 DEPP autophagy regulator 1 gene DOID:9455 lipid storage disease ISO RGD:1352536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557 12422345 KIN Kin17 DNA and RNA binding protein gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1315717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12422345 KIN Kin17 DNA and RNA binding protein gene DOID:630 genetic disease ISO RGD:1315717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12422362 LIN54 lin-54 DREAM MuvB core complex component gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1606970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 12422362 LIN54 lin-54 DREAM MuvB core complex component gene DOID:630 genetic disease ISO RGD:1606970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12422392 ADCY4 adenylate cyclase 4 gene DOID:0060439 lysinuric protein intolerance ISO RGD:736108 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12422392 ADCY4 adenylate cyclase 4 gene DOID:630 genetic disease ISO RGD:736108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12422392 ADCY4 adenylate cyclase 4 gene DOID:9000265 Specific Granule Deficiency ISO RGD:736108 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12422392 ADCY4 adenylate cyclase 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:736108 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12422434 LIAT1 ligand of ATE1 gene DOID:630 genetic disease ISO RGD:1606638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12422440 TMEM184B transmembrane protein 184B gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1315295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12422440 TMEM184B transmembrane protein 184B gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1315295 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12422440 TMEM184B transmembrane protein 184B gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1315295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12422440 TMEM184B transmembrane protein 184B gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1315295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 12422440 TMEM184B transmembrane protein 184B gene DOID:630 genetic disease ISO RGD:1315295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12422440 TMEM184B transmembrane protein 184B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12422455 PHF1 PHD finger protein 1 gene DOID:0050553 JMP syndrome ISO RGD:1344150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12422455 PHF1 PHD finger protein 1 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1344150 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 12422455 PHF1 PHD finger protein 1 gene DOID:630 genetic disease ISO RGD:1344150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12422481 COL12A1 collagen type XII alpha 1 chain gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:735743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12422481 COL12A1 collagen type XII alpha 1 chain gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:735743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 PMID:16199547|PMID:24334604|PMID:25741868|PMID:28492532|PMID:28973083 12422481 COL12A1 collagen type XII alpha 1 chain gene DOID:0050663 Bethlem myopathy ISO RGD:735743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bethlem myopathy PMID:25741868|PMID:28492532 12422481 COL12A1 collagen type XII alpha 1 chain gene DOID:0110250 cataract 16 multiple types ISO RGD:735743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 16 multiple types PMID:25741868|PMID:28492532 12422481 COL12A1 collagen type XII alpha 1 chain gene DOID:1790 malignant mesothelioma ISO RGD:735743 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 12422481 COL12A1 collagen type XII alpha 1 chain gene DOID:630 genetic disease ISO RGD:735743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:24334604|PMID:25741868|PMID:27348394|PMID:28492532|PMID:28973083 12422481 COL12A1 collagen type XII alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735743 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12422481 COL12A1 collagen type XII alpha 1 chain gene DOID:9002723 Ullrich Congenital Muscular Dystrophy 2 ISO RGD:735743 D RGD:7240710 20180130 OMIM 12422481 COL12A1 collagen type XII alpha 1 chain gene DOID:9002723 Ullrich Congenital Muscular Dystrophy 2 ISO RGD:735743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COL12A1- Related Disorder | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 PMID:16199547|PMID:17576681|PMID:224334604|PMID:24334604|PMID:24334769|PMID:25741868|PMID:26362251|PMID:27159402|PMID:27348394|PMID:28492532|PMID:28973083|PMID:29342313|PMID:29858556|PMID:31127727|PMID:31273343|PMID:33146414|PMID:8601036|PMID:9536098 12422481 COL12A1 collagen type XII alpha 1 chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735743 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12422481 COL12A1 collagen type XII alpha 1 chain gene DOID:9006278 Bethlem Myopathy 2 ISO RGD:735743 D RGD:7240710 20180130 OMIM 12422481 COL12A1 collagen type XII alpha 1 chain gene DOID:9006278 Bethlem Myopathy 2 ISO RGD:735743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 2 PMID:24334604|PMID:24334769|PMID:25741868|PMID:28492532|PMID:29858556 12422481 COL12A1 collagen type XII alpha 1 chain gene DOID:9008086 Developmental Disabilities ISO RGD:735743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12422561 OSBPL3 oxysterol binding protein like 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12422561 OSBPL3 oxysterol binding protein like 3 gene DOID:630 genetic disease ISO RGD:1350234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12422614 KIAA1549 KIAA1549 gene DOID:0080690 RASopathy ISO RGD:2292705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12422614 KIAA1549 KIAA1549 gene DOID:0112143 retinitis pigmentosa 86 ISO RGD:2292705 D RGD:7240710 20191030 OMIM 12422614 KIAA1549 KIAA1549 gene DOID:0112143 retinitis pigmentosa 86 ISO RGD:2292705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 86 PMID:25741868|PMID:28492532|PMID:30120214 12422614 KIAA1549 KIAA1549 gene DOID:10584 retinitis pigmentosa ISO RGD:2292705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868 12422614 KIAA1549 KIAA1549 gene DOID:3069 malignant astrocytoma ISO RGD:2292705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23817572 12422614 KIAA1549 KIAA1549 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2292705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12422614 KIAA1549 KIAA1549 gene DOID:630 genetic disease ISO RGD:2292705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12422642 PLBD1 phospholipase B domain containing 1 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1605619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12422642 PLBD1 phospholipase B domain containing 1 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1605619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12422642 PLBD1 phospholipase B domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:1605619 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12422642 PLBD1 phospholipase B domain containing 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605619 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 12422642 PLBD1 phospholipase B domain containing 1 gene DOID:630 genetic disease ISO RGD:1605619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12422657 IQCC IQ motif containing C gene DOID:11612 polycystic ovary syndrome ISO RGD:1343946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12422657 IQCC IQ motif containing C gene DOID:630 genetic disease ISO RGD:1343946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12422670 ORMDL2 ORMDL sphingolipid biosynthesis regulator 2 gene DOID:630 genetic disease ISO RGD:1313791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12422682 TATDN3 TatD DNase domain containing 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1604534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12422682 TATDN3 TatD DNase domain containing 3 gene DOID:630 genetic disease ISO RGD:1604534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12422682 TATDN3 TatD DNase domain containing 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12422702 DNM3 dynamin 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1354127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12422702 DNM3 dynamin 3 gene DOID:630 genetic disease ISO RGD:1354127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12422702 DNM3 dynamin 3 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1354127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 12422702 DNM3 dynamin 3 gene DOID:9002265 Kidney Neoplasms ISO RGD:1354127 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 12422702 DNM3 dynamin 3 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1354127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12422702 DNM3 dynamin 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12422727 UNC119 unc-119 lipid binding chaperone gene DOID:0050572 cone-rod dystrophy ISO RGD:1343859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:11006213|PMID:22184408|PMID:24033266|PMID:25741868|PMID:28492532 12422727 UNC119 unc-119 lipid binding chaperone gene DOID:0111987 immunodeficiency 13 ISO RGD:1343859 D RGD:7240710 20200826 OMIM 12422727 UNC119 unc-119 lipid binding chaperone gene DOID:0111987 immunodeficiency 13 ISO RGD:1343859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 13 PMID:22184408|PMID:24033266|PMID:25741868|PMID:28492532 12422727 UNC119 unc-119 lipid binding chaperone gene DOID:10584 retinitis pigmentosa ISO RGD:1343859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11006213 12422727 UNC119 unc-119 lipid binding chaperone gene DOID:3109 idiopathic CD4-positive T-lymphocytopenia ISO RGD:1343859 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IDIOPATHIC CD4 LYMPHOPENIA PMID:22184408|PMID:24033266|PMID:25741868|PMID:28492532 12422727 UNC119 unc-119 lipid binding chaperone gene DOID:4448 macular degeneration ISO RGD:1343859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:26992781|PMID:35947183 12422727 UNC119 unc-119 lipid binding chaperone gene DOID:630 genetic disease ISO RGD:1343859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12422727 UNC119 unc-119 lipid binding chaperone gene DOID:9005636 Cone-Rod Dystrophy 24 ISO RGD:1343859 D RGD:7240710 20230505 OMIM 12422727 UNC119 unc-119 lipid binding chaperone gene DOID:9005636 Cone-Rod Dystrophy 24 ISO RGD:1343859 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 24 PMID:11006213|PMID:26992781|PMID:28492532|PMID:35947183 12422736 KCNG2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1319904 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12422736 KCNG2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1319904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 12422736 KCNG2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:1059 intellectual disability ISO RGD:1319904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disability with severe speech impairment PMID:25741868 12422736 KCNG2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:630 genetic disease ISO RGD:1319904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12422736 KCNG2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:6420 pulmonary valve stenosis ISO RGD:1319904 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 12422736 KCNG2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:8445 intestinal volvulus ISO RGD:1319904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12422736 KCNG2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1319904 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 12422736 KCNG2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12422736 KCNG2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1319904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12422745 SUFU SUFU negative regulator of hedgehog signaling gene DOID:0050902 medulloblastoma ISO RGD:1346700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:12068298|PMID:17102621|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:24651015|PMID:24728327|PMID:25326637|PMID:25403219|PMID:25741868|PMID:26467025|PMID:26580448|PMID:28492532|PMID:28717660|PMID:28873162|PMID:29186568|PMID:29641532|PMID:29753700|PMID:33024317|PMID:34056767 12422745 SUFU SUFU negative regulator of hedgehog signaling gene DOID:0050902 medulloblastoma susceptibility ISO RGD:1346700 D RGD:7240710 20230517 OMIM 12422745 SUFU SUFU negative regulator of hedgehog signaling gene DOID:0060071 pre-malignant neoplasm ISO RGD:1559462 D RGD:9068941 20220114 RGD mRNA:decreased expression:stomach mucosa (rat) PMID:30537251|REF_RGD_ID:150520178 12422745 SUFU SUFU negative regulator of hedgehog signaling gene DOID:0080278 Joubert syndrome 32 ISO RGD:1346700 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Joubert syndrome 32 PMID:22508808|PMID:25741868|PMID:27930734|PMID:28492532|PMID:28965847 12422745 SUFU SUFU negative regulator of hedgehog signaling gene DOID:0080278 Joubert syndrome 32 susceptibility ISO RGD:1346700 D RGD:7240710 20230517 OMIM 12422745 SUFU SUFU negative regulator of hedgehog signaling gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1346700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified PMID:25741868|PMID:28492532 12422745 SUFU SUFU negative regulator of hedgehog signaling gene DOID:10283 prostate cancer ISO RGD:1346700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 12422745 SUFU SUFU negative regulator of hedgehog signaling gene DOID:2120 focal dermal hypoplasia ISO RGD:1346700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gorlin-Goltz Syndrome PMID:12068298|PMID:19533801|PMID:21188540|PMID:25741868|PMID:28492532 12422745 SUFU SUFU negative regulator of hedgehog signaling gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1346700 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:16199547|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:23265383|PMID:23826113|PMID:24651015|PMID:24728327|PMID:25403219|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27363716|PMID:27930734|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29356994|PMID:29489754|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:31639285|PMID:32278351|PMID:32295625|PMID:33024317|PMID:34056767|PMID:34589056|PMID:9536098 12422745 SUFU SUFU negative regulator of hedgehog signaling gene DOID:2513 basal cell carcinoma ISO RGD:1346700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 12422745 SUFU SUFU negative regulator of hedgehog signaling gene DOID:3073 brain glioblastoma multiforme ISO RGD:1346700 D RGD:9068941 20220114 RGD human, rat, and/or mouse glioma cells in a mouse model PMID:30790292|REF_RGD_ID:150573813 12422745 SUFU SUFU negative regulator of hedgehog signaling gene DOID:3073 brain glioblastoma multiforme ISO RGD:1556878 D RGD:9068941 20220114 RGD human, rat, and/or mouse glioma cells in a mouse model PMID:30790292|REF_RGD_ID:150573813 12422745 SUFU SUFU negative regulator of hedgehog signaling gene DOID:3073 brain glioblastoma multiforme ISO RGD:1559462 D RGD:9068941 20220114 RGD human, rat, and/or mouse glioma cells in a mouse model PMID:30790292|REF_RGD_ID:150573813 12422745 SUFU SUFU negative regulator of hedgehog signaling gene DOID:3840 craniopharyngioma ISO RGD:1346700 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Craniopharyngioma PMID:25741868|PMID:28492532|PMID:29641532 12422745 SUFU SUFU negative regulator of hedgehog signaling gene DOID:3873 desmoplastic/nodular medulloblastoma ISO RGD:1346700 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma PMID:12068298 12422745 SUFU SUFU negative regulator of hedgehog signaling gene DOID:4586 familial meningioma ISO RGD:1346700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial meningioma PMID:22958902|PMID:25741868 12422745 SUFU SUFU negative regulator of hedgehog signaling gene DOID:4586 familial meningioma susceptibility ISO RGD:1346700 D RGD:7240710 20230517 OMIM 12422745 SUFU SUFU negative regulator of hedgehog signaling gene DOID:4621 holoprosencephaly ISO RGD:1346700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microform holoprosencephaly PMID:24728327|PMID:27363716|PMID:28492532 12422745 SUFU SUFU negative regulator of hedgehog signaling gene DOID:630 genetic disease ISO RGD:1346700 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12422745 SUFU SUFU negative regulator of hedgehog signaling gene DOID:8418 congenital fibrosarcoma ISO RGD:1346700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital fibrosarcoma 12422745 SUFU SUFU negative regulator of hedgehog signaling gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346700 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12422745 SUFU SUFU negative regulator of hedgehog signaling gene DOID:9005987 Basal Cell Nevus Syndrome 1 ISO RGD:1346700 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: BASAL CELL NEVUS SYNDROME 1 PMID:12068298|PMID:19533801|PMID:21188540|PMID:25741868|PMID:28492532 12422745 SUFU SUFU negative regulator of hedgehog signaling gene DOID:9006702 Basal Cell Nevus Syndrome 2 ISO RGD:1346700 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Basal cell nevus syndrome 2 PMID:12068298|PMID:19533801|PMID:21188540|PMID:25741868|PMID:28492532 12422745 SUFU SUFU negative regulator of hedgehog signaling gene DOID:9006702 Basal Cell Nevus Syndrome 2 susceptibility ISO RGD:1346700 D RGD:7240710 20230517 OMIM 12422745 SUFU SUFU negative regulator of hedgehog signaling gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346700 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12068298|PMID:17102621|PMID:17576681|PMID:21188540|PMID:22508808|PMID:23826113|PMID:24728327|PMID:25287320|PMID:25403219|PMID:25741868|PMID:26184317|PMID:26467025|PMID:26580448|PMID:27363716|PMID:27930734|PMID:28050010|PMID:28166811|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:9536098 12422745 SUFU SUFU negative regulator of hedgehog signaling gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346700 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12068298|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:22958902|PMID:23826113|PMID:24651015|PMID:24728327|PMID:25287320|PMID:25403219|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27363716|PMID:27930734|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:32295625|PMID:33024317|PMID:34056767|PMID:34589056|PMID:9536098 12422745 SUFU SUFU negative regulator of hedgehog signaling gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12422763 PEBP4 phosphatidylethanolamine binding protein 4 gene DOID:630 genetic disease ISO RGD:1606949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12422763 PEBP4 phosphatidylethanolamine binding protein 4 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1606949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 12422792 HYLS1 HYLS1 centriolar and ciliogenesis associated gene DOID:0050779 hydrolethalus syndrome ISO RGD:1606679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrolethalus syndrome PMID:15843405|PMID:18648327|PMID:19400947|PMID:19656802|PMID:25741868|PMID:28492532 12422792 HYLS1 HYLS1 centriolar and ciliogenesis associated gene DOID:0060668 anencephaly ISO RGD:1606679 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Anencephaly PMID:25741868|PMID:27055666|PMID:31680349 12422792 HYLS1 HYLS1 centriolar and ciliogenesis associated gene DOID:0110877 holoprosencephaly 11 ISO RGD:1606679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12422792 HYLS1 HYLS1 centriolar and ciliogenesis associated gene DOID:0111355 hydrolethalus syndrome 1 ISO RGD:1606679 D RGD:7240710 20180130 OMIM 12422792 HYLS1 HYLS1 centriolar and ciliogenesis associated gene DOID:0111355 hydrolethalus syndrome 1 ISO RGD:1606679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrolethalus syndrome 1 PMID:15843405|PMID:18648327|PMID:19400947|PMID:19656802|PMID:25741868|PMID:28492532 12422792 HYLS1 HYLS1 centriolar and ciliogenesis associated gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12422792 HYLS1 HYLS1 centriolar and ciliogenesis associated gene DOID:2785 Dandy-Walker syndrome ISO RGD:1606679 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dandy-Walker malformation PMID:25741868|PMID:28492532|PMID:30697592|PMID:31474318 12422792 HYLS1 HYLS1 centriolar and ciliogenesis associated gene DOID:5419 schizophrenia ISO RGD:1606679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12422792 HYLS1 HYLS1 centriolar and ciliogenesis associated gene DOID:630 genetic disease ISO RGD:1606679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12422792 HYLS1 HYLS1 centriolar and ciliogenesis associated gene DOID:9000355 Neurodevelopmental Disorder with Microcephaly and Gray Sclerae ISO RGD:1606679 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE PMID:25741868|PMID:27055666|PMID:28454995|PMID:28492532|PMID:30697592|PMID:31444731|PMID:31474318|PMID:34415064 12422792 HYLS1 HYLS1 centriolar and ciliogenesis associated gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12422792 HYLS1 HYLS1 centriolar and ciliogenesis associated gene DOID:9007661 Dwarfism ISO RGD:1606679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12422818 OSTM1 osteoclastogenesis associated transmembrane protein 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1345018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 12422818 OSTM1 osteoclastogenesis associated transmembrane protein 1 gene DOID:0110939 autosomal recessive osteopetrosis 5 ISO RGD:1345018 D RGD:7240710 20180130 OMIM 12422818 OSTM1 osteoclastogenesis associated transmembrane protein 1 gene DOID:0110939 autosomal recessive osteopetrosis 5 ISO RGD:1345018 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 5 PMID:12627228|PMID:16813530|PMID:25741868|PMID:28492532|PMID:28612835 12422818 OSTM1 osteoclastogenesis associated transmembrane protein 1 gene DOID:13533 osteopetrosis ISO RGD:1345018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteopetrosis 12422818 OSTM1 osteoclastogenesis associated transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1345018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12422828 SLC16A10 solute carrier family 16 member 10 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:731538 D RGD:9068941 20220224 RGD protein:increased expression:esophagus PMID:33609949|REF_RGD_ID:151361149 12422828 SLC16A10 solute carrier family 16 member 10 gene DOID:630 genetic disease ISO RGD:731538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12422838 SLC38A6 solute carrier family 38 member 6 gene DOID:630 genetic disease ISO RGD:1321172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12422880 GPR137C G protein-coupled receptor 137C gene DOID:630 genetic disease ISO RGD:1603253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12422891 TNXB tenascin XB gene DOID:0050553 JMP syndrome ISO RGD:1345578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12422891 TNXB tenascin XB gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:1345578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia PMID:10408786|PMID:10857554|PMID:10908170|PMID:11220701|PMID:12220458|PMID:12384784|PMID:14715874|PMID:15858147|PMID:17164306|PMID:1864962|PMID:19773403|PMID:20301350|PMID:21532487|PMID:23269230|PMID:23359698|PMID:23769969|PMID:24033266|PMID:25481255|PMID:25525159|PMID:25538881|PMID:25741868|PMID:26209023|PMID:26467025|PMID:26804566|PMID:28392195|PMID:28401898|PMID:28492532|PMID:28644547|PMID:28819757|PMID:29386111|PMID:29715434|PMID:30048636|PMID:3038528|PMID:30833958|PMID:30889569|PMID:30995443|PMID:31159521|PMID:31446012|PMID:31571129|PMID:31586465|PMID:31637888|PMID:31980526|PMID:32185686|PMID:32272826|PMID:32358738|PMID:32367404|PMID:32616876|PMID:32647925|PMID:3267225|PMID:32714392|PMID:32903448|PMID:33083013|PMID:33240318|PMID:33710594|PMID:33715135|PMID:34540367|PMID:8034294|PMID:8741909|PMID:9378109 12422891 TNXB tenascin XB gene DOID:0080731 Ehlers-Danlos syndrome classic-like 1 ISO RGD:1345578 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency PMID:11642233|PMID:11925569|PMID:12865992|PMID:15733269|PMID:1620134|PMID:20649799|PMID:20853426|PMID:23284009|PMID:23555315|PMID:23620400|PMID:23768946|PMID:24033266|PMID:24088041|PMID:25333069|PMID:25741868|PMID:26075496|PMID:26257771|PMID:26408188|PMID:26633545|PMID:26662719|PMID:28344932|PMID:30115950|PMID:31141158|PMID:31702543|PMID:31731524|PMID:32164334|PMID:32214361|PMID:9288108 12422891 TNXB tenascin XB gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1345578 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:11642233|PMID:15733269|PMID:20649799|PMID:20853426|PMID:23555315|PMID:23620400|PMID:24033266|PMID:24088041|PMID:25047945|PMID:25326637|PMID:25333069|PMID:25741868|PMID:26075496|PMID:26257771|PMID:26275793|PMID:26408188|PMID:26633545|PMID:26662719|PMID:29590070|PMID:30975432|PMID:31141158|PMID:31702543|PMID:32164334|PMID:32214361 12422891 TNXB tenascin XB gene DOID:14757 Ehlers-Danlos syndrome hypermobility type ISO RGD:1345578 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 PMID:25326637|PMID:25741868 12422891 TNXB tenascin XB gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1345578 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29379198 12422891 TNXB tenascin XB gene DOID:630 genetic disease ISO RGD:1345578 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11642233|PMID:20649799|PMID:25741868|PMID:31702543 12422891 TNXB tenascin XB gene DOID:9000781 Cyanosis ISO RGD:1345578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cyanosis PMID:25741868 12422891 TNXB tenascin XB gene DOID:9003723 Vesicoureteral Reflux 8 ISO RGD:1345578 D RGD:7240710 20180130 OMIM 12422891 TNXB tenascin XB gene DOID:9003723 Vesicoureteral Reflux 8 ISO RGD:1345578 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Vesicoureteral reflux 8 PMID:23555315|PMID:23620400|PMID:24088041|PMID:25741868|PMID:26257771|PMID:26408188|PMID:26633545|PMID:26662719|PMID:27582382|PMID:27657687|PMID:30115950|PMID:31141158|PMID:31702543|PMID:32164334|PMID:32214361 12422891 TNXB tenascin XB gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:1345578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency PMID:10408786|PMID:10496074|PMID:10720040|PMID:10857554|PMID:10908170|PMID:11220701|PMID:12220458|PMID:12384784|PMID:14513879|PMID:14715874|PMID:1496017|PMID:15110320|PMID:15858147|PMID:1644925|PMID:16788163|PMID:17119906|PMID:17164306|PMID:1864962|PMID:19204079|PMID:19505723|PMID:19773403|PMID:20301350|PMID:21134444|PMID:21169732|PMID:21228398|PMID:21329531|PMID:21532487|PMID:21534945|PMID:22841790|PMID:2303461|PMID:23166432|PMID:23241443|PMID:23269230|PMID:23359698|PMID:23359706|PMID:23769969|PMID:24033266|PMID:24077358|PMID:24904866|PMID:25227725|PMID:25481255|PMID:25525159|PMID:25538881|PMID:25630015|PMID:25741868|PMID:26206692|PMID:26209023|PMID:26467025|PMID:26804566|PMID:28392195|PMID:28401898|PMID:28492532|PMID:28644547|PMID:28741757|PMID:28819757|PMID:29386111|PMID:29715434|PMID:29996815|PMID:30048636|PMID:3038528|PMID:30833958|PMID:30889569|PMID:30968594|PMID:30995443|PMID:31159521|PMID:31446012|PMID:31571129|PMID:31586465|PMID:31637888|PMID:31980526|PMID:32185686|PMID:32272826|PMID:32289882|PMID:32358738|PMID:32367404|PMID:32616876|PMID:32647925|PMID:3267225|PMID:32714392|PMID:32903448|PMID:33083013|PMID:33240318|PMID:33710594|PMID:33715135|PMID:34540367|PMID:8034294|PMID:8741909|PMID:9099839|PMID:9187661|PMID:9215318|PMID:9378109 12422891 TNXB tenascin XB gene DOID:9620 vesicoureteral reflux ISO RGD:1345578 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12422948 RPL11 ribosomal protein L11 gene DOID:0060058 lymphoma susceptibility ISO RGD:1318595 D RGD:9068941 20200609 RGD PMID:26489471|REF_RGD_ID:11535971 12422948 RPL11 ribosomal protein L11 gene DOID:0111878 Diamond-Blackfan anemia 7 ISO RGD:1318594 D RGD:7240710 20180130 OMIM 12422948 RPL11 ribosomal protein L11 gene DOID:0111878 Diamond-Blackfan anemia 7 ISO RGD:1318594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 7 PMID:16199547|PMID:19061985|PMID:19773262|PMID:23718193|PMID:25741868|PMID:28492532|PMID:30503522 12422948 RPL11 ribosomal protein L11 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1318594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16199547|PMID:17576681|PMID:19061985|PMID:19773262|PMID:20960466|PMID:22689679|PMID:23718193|PMID:25741868|PMID:26136524|PMID:26185635|PMID:28492532|PMID:30503522|PMID:9536098 12422948 RPL11 ribosomal protein L11 gene DOID:2355 anemia ISO RGD:1318594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:32581362 12422948 RPL11 ribosomal protein L11 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1318594 D RGD:9068941 20200609 RGD DNA:missense mutation, frameshift mutation:p.R18P, p.G30fs (human) PMID:23377281|REF_RGD_ID:11535972 12422948 RPL11 ribosomal protein L11 gene DOID:630 genetic disease ISO RGD:1318594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12422948 RPL11 ribosomal protein L11 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 12422948 RPL11 ribosomal protein L11 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1318594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 12422962 GDF1 growth differentiation factor 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1312261 D RGD:7240710 20180130 OMIM 12422962 GDF1 growth differentiation factor 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1312261 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Situs ambiguus | ClinVar Annotator: match by term: Visceral heterotaxy PMID:17924340|PMID:20413652|PMID:25741868|PMID:28492532|PMID:28991257 12422962 GDF1 growth differentiation factor 1 gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:1312261 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17924340 12422962 GDF1 growth differentiation factor 1 gene DOID:0060772 multiple types of congenital heart defects 6 ISO RGD:1312261 D RGD:7240710 20180130 OMIM 12422962 GDF1 growth differentiation factor 1 gene DOID:0060772 multiple types of congenital heart defects 6 ISO RGD:1312261 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 6 PMID:14648004|PMID:1792434|PMID:17924340|PMID:17936261|PMID:20413652|PMID:25741868|PMID:28492532|PMID:28991257|PMID:32144877 12422962 GDF1 growth differentiation factor 1 gene DOID:0060850 annular pancreas ISO RGD:1312262 D RGD:9068941 20220825 MouseDO OMIM:167750 12422962 GDF1 growth differentiation factor 1 gene DOID:0060856 right atrial isomerism ISO RGD:1312261 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Right atrial isomerism PMID:14648004|PMID:1792434|PMID:17924340|PMID:17936261|PMID:20413652|PMID:25741868|PMID:28492532|PMID:28991257|PMID:32144877 12422962 GDF1 growth differentiation factor 1 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1312261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:17576681|PMID:17924340|PMID:19243074|PMID:20413652|PMID:24033266|PMID:24782409|PMID:25741868|PMID:28492532|PMID:28991257|PMID:30800706|PMID:9536098 12422962 GDF1 growth differentiation factor 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1312261 D RGD:9068941 20230413 RGD mRNA,protein:increased expression:heart (human) PMID:24275554|REF_RGD_ID:11252017 12422962 GDF1 growth differentiation factor 1 gene DOID:1682 congenital heart disease ISO RGD:1312261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:28492532|PMID:28991257 12422962 GDF1 growth differentiation factor 1 gene DOID:1682 congenital heart disease susceptibility ISO RGD:1312261 D RGD:9068941 20230413 RGD DNA:SNPs,haplotypes: (rs7250622,rs4808867, rs4808870) (human) PMID:23076529|REF_RGD_ID:243065149 12422962 GDF1 growth differentiation factor 1 gene DOID:1682 congenital heart disease susceptibility ISO RGD:1312261 D RGD:9068941 20230413 RGD DNA:SNPs:exon8: (rs4808863) (human) PMID:26656983|REF_RGD_ID:11536909 12422962 GDF1 growth differentiation factor 1 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1312261 D RGD:9068941 20230413 RGD associated with Stable Angina; protein:decreased expression:blood plasma (human) PMID:36268984|REF_RGD_ID:243065147 12422962 GDF1 growth differentiation factor 1 gene DOID:630 genetic disease ISO RGD:1312261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17924340|PMID:25741868|PMID:28492532 12422962 GDF1 growth differentiation factor 1 gene DOID:6406 double outlet right ventricle ISO RGD:1312261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Double outlet right ventricle PMID:17924340 12422962 GDF1 growth differentiation factor 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1312261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:17924340|PMID:28492532 12422962 GDF1 growth differentiation factor 1 gene DOID:758 situs inversus ISO RGD:1312261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:17924340 12422962 GDF1 growth differentiation factor 1 gene DOID:9003936 Cardiomegaly exacerbates ISO RGD:1312262 D RGD:9068941 20230413 RGD PMID:24275554|REF_RGD_ID:11252017 12422962 GDF1 growth differentiation factor 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1312261 D RGD:9068941 20230406 RGD protein:increased expression:Left ventricle (human) PMID:25726944|REF_RGD_ID:11252030 12422962 GDF1 growth differentiation factor 1 gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:1312262 D RGD:9068941 20230406 RGD associated with myocardial infarction PMID:25726944|REF_RGD_ID:11252030 12422962 GDF1 growth differentiation factor 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1312261 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12422971 MIR155 microRNA mir-155 gene DOID:0050424 familial adenomatous polyposis ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:decreased expression:colon PMID:30072583|REF_RGD_ID:21409749 12422971 MIR155 microRNA mir-155 gene DOID:0050827 rheumatic heart disease ISO RGD:7489038 D RGD:9068941 20220121 RGD PMID:31894293|REF_RGD_ID:151347417 12422971 MIR155 microRNA mir-155 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:28413645|PMID:29909906|REF_RGD_ID:21079468|REF_RGD_ID:24922225 12422971 MIR155 microRNA mir-155 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:30194167|REF_RGD_ID:21079420 12422971 MIR155 microRNA mir-155 gene DOID:0060058 lymphoma ISO RGD:1608318 D RGD:9068941 20220825 MouseDO 12422971 MIR155 microRNA mir-155 gene DOID:0060643 primary sclerosing cholangitis ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:decreased expression:serum PMID:30653586|REF_RGD_ID:21081530 12422971 MIR155 microRNA mir-155 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1608318 D RGD:9068941 20200609 RGD PMID:27856635|REF_RGD_ID:21079446 12422971 MIR155 microRNA mir-155 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:decreased expression:blood, liver PMID:27832630|REF_RGD_ID:25671479 12422971 MIR155 microRNA mir-155 gene DOID:0081292 traumatic brain injury ISO RGD:1608318 D RGD:9068941 20200609 RGD PMID:28804446|REF_RGD_ID:25314324 12422971 MIR155 microRNA mir-155 gene DOID:10283 prostate cancer severity ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:increased expression:prostate gland PMID:29630104|REF_RGD_ID:21408594 12422971 MIR155 microRNA mir-155 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:increased expression:peripheral blood mononuclear cell PMID:29658610|REF_RGD_ID:21081544 12422971 MIR155 microRNA mir-155 gene DOID:10534 stomach cancer ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:29250766|REF_RGD_ID:21408595 12422971 MIR155 microRNA mir-155 gene DOID:10534 stomach cancer ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:decreased expression:stomach PMID:30008945|REF_RGD_ID:21403680 12422971 MIR155 microRNA mir-155 gene DOID:10534 stomach cancer disease_progression ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:decreased expression:stomach PMID:31103022|REF_RGD_ID:21081514 12422971 MIR155 microRNA mir-155 gene DOID:10591 pre-eclampsia ISO RGD:2299183 D RGD:9068941 20230128 RGD miRNA:increased expression:blood serum (human) PMID:28700503|REF_RGD_ID:155882490 12422971 MIR155 microRNA mir-155 gene DOID:10652 Alzheimer's disease ISO RGD:2299183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562|PMID:25741868 12422971 MIR155 microRNA mir-155 gene DOID:11394 adult respiratory distress syndrome ISO RGD:2299183 D RGD:9068941 20200609 RGD associated with sepsis;miRNA:increased expression:lung PMID:28125526|REF_RGD_ID:24922218 12422971 MIR155 microRNA mir-155 gene DOID:12351 alcoholic hepatitis ISO RGD:7489038 D RGD:9068941 20220121 RGD RNA:increased expression:liver PMID:32317960|REF_RGD_ID:151347420 12422971 MIR155 microRNA mir-155 gene DOID:13129 severe pre-eclampsia severity ISO RGD:2299183 D RGD:9068941 20221013 RGD miRNA:increased expression:blood serum (human) PMID:31487655|REF_RGD_ID:155582220 12422971 MIR155 microRNA mir-155 gene DOID:13241 Behcet's disease ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:27156371|REF_RGD_ID:25671481 12422971 MIR155 microRNA mir-155 gene DOID:13241 Behcet's disease ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:increased expression:peripheral blood mononuclear cell PMID:30366049|REF_RGD_ID:21409751 12422971 MIR155 microRNA mir-155 gene DOID:13608 biliary atresia ISO RGD:1608318 D RGD:9068941 20200609 RGD miRNA:increased expression:liver PMID:27817193|REF_RGD_ID:25671379 12422971 MIR155 microRNA mir-155 gene DOID:13608 biliary atresia ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:increased expression:liver PMID:27817193|PMID:28355202|REF_RGD_ID:24922206|REF_RGD_ID:25671379 12422971 MIR155 microRNA mir-155 gene DOID:14115 toxic shock syndrome ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:29979224|REF_RGD_ID:21081538 12422971 MIR155 microRNA mir-155 gene DOID:14250 Down syndrome ISO RGD:2299183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29403643 12422971 MIR155 microRNA mir-155 gene DOID:14330 Parkinson's disease ISO RGD:7489038 D RGD:9068941 20210129 RGD RNA:increased expression: plasma extracellular vesicle PMID:32326590|REF_RGD_ID:41404531 12422971 MIR155 microRNA mir-155 gene DOID:1485 cystic fibrosis ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:increased expression:serum PMID:27689251|REF_RGD_ID:25671378 12422971 MIR155 microRNA mir-155 gene DOID:1498 cholera ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:increased expression:duodenum PMID:28319200|REF_RGD_ID:25314323 12422971 MIR155 microRNA mir-155 gene DOID:1936 atherosclerosis ISO RGD:1608318 D RGD:9068941 20200609 RGD PMID:27856635|PMID:28970282|REF_RGD_ID:21079445|REF_RGD_ID:21079446 12422971 MIR155 microRNA mir-155 gene DOID:1936 atherosclerosis severity ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:decreased expression:peripheral blood mononuclear cell, plasma PMID:31866771|REF_RGD_ID:21081515 12422971 MIR155 microRNA mir-155 gene DOID:1936 atherosclerosis treatment ISO RGD:1608318 D RGD:9068941 20200609 RGD associated with Bacteremia PMID:28646427|REF_RGD_ID:24922209 12422971 MIR155 microRNA mir-155 gene DOID:2043 hepatitis B ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:29349567|REF_RGD_ID:21408592 12422971 MIR155 microRNA mir-155 gene DOID:2048 autoimmune hepatitis ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:29420849|REF_RGD_ID:21409750 12422971 MIR155 microRNA mir-155 gene DOID:2048 autoimmune hepatitis treatment ISO RGD:1608318 D RGD:9068941 20200609 RGD PMID:30290123|REF_RGD_ID:21081535 12422971 MIR155 microRNA mir-155 gene DOID:219 colon cancer ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:26744471|REF_RGD_ID:11520828 12422971 MIR155 microRNA mir-155 gene DOID:219 colon cancer ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:increased expression:colon PMID:29552117|REF_RGD_ID:21081546 12422971 MIR155 microRNA mir-155 gene DOID:219 colon cancer treatment ISO RGD:1608318 D RGD:9068941 20200609 RGD PMID:29552117|REF_RGD_ID:21081546 12422971 MIR155 microRNA mir-155 gene DOID:224 transient cerebral ischemia treatment ISO RGD:7489038 D RGD:9068941 20220121 RGD PMID:33081480|REF_RGD_ID:151347423 12422971 MIR155 microRNA mir-155 gene DOID:234 colon adenocarcinoma treatment ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:29535520|REF_RGD_ID:21409754 12422971 MIR155 microRNA mir-155 gene DOID:2913 acute pancreatitis severity ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:29937734|PMID:30497068|REF_RGD_ID:21403683|REF_RGD_ID:21408596 12422971 MIR155 microRNA mir-155 gene DOID:3042 allergic contact dermatitis treatment ISO RGD:7489038 D RGD:9068941 20200609 RGD PMID:29404871|REF_RGD_ID:21079472 12422971 MIR155 microRNA mir-155 gene DOID:3382 liposarcoma disease_progression ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:28036291|REF_RGD_ID:25314299 12422971 MIR155 microRNA mir-155 gene DOID:3393 coronary artery disease ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:decreased expression:peripheral blood mononuclear cell, plasma PMID:31866771|REF_RGD_ID:21081515 12422971 MIR155 microRNA mir-155 gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:28198398|REF_RGD_ID:25314300 12422971 MIR155 microRNA mir-155 gene DOID:4029 gastritis ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:29250766|REF_RGD_ID:21408595 12422971 MIR155 microRNA mir-155 gene DOID:4195 hyperglycemia ISO RGD:1608318 D RGD:9068941 20200609 RGD PMID:27711113|REF_RGD_ID:25671464 12422971 MIR155 microRNA mir-155 gene DOID:4866 salivary gland adenoid cystic carcinoma disease_progression ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:28668836|REF_RGD_ID:24922215 12422971 MIR155 microRNA mir-155 gene DOID:4905 pancreatic carcinoma ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:increased expression:serum PMID:28660759|REF_RGD_ID:24922217 12422971 MIR155 microRNA mir-155 gene DOID:4947 cholangiocarcinoma ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:increased expression:serum PMID:30653586|REF_RGD_ID:21081530 12422971 MIR155 microRNA mir-155 gene DOID:4948 gallbladder carcinoma disease_progression ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:increased expression:gall bladder PMID:26885061|REF_RGD_ID:21079444 12422971 MIR155 microRNA mir-155 gene DOID:4989 pancreatitis ISO RGD:2299183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12422971 MIR155 microRNA mir-155 gene DOID:5041 esophageal cancer ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:29660336|REF_RGD_ID:21409755 12422971 MIR155 microRNA mir-155 gene DOID:5082 liver cirrhosis ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:29420849|REF_RGD_ID:21409750 12422971 MIR155 microRNA mir-155 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:30617160|REF_RGD_ID:21081517 12422971 MIR155 microRNA mir-155 gene DOID:5844 myocardial infarction treatment ISO RGD:1608318 D RGD:9068941 20200609 RGD PMID:31207208|REF_RGD_ID:21066347 12422971 MIR155 microRNA mir-155 gene DOID:640 encephalomyelitis severity ISO RGD:1608318 D RGD:9068941 20200609 RGD associated with viral infectious disease PMID:27604627|REF_RGD_ID:21079465 12422971 MIR155 microRNA mir-155 gene DOID:684 hepatocellular carcinoma ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:27035278|PMID:28074870|REF_RGD_ID:21079433|REF_RGD_ID:21079477 12422971 MIR155 microRNA mir-155 gene DOID:684 hepatocellular carcinoma ISO RGD:2299183 D RGD:9068941 20200609 RGD associated with hepatitis C;DNA:SNP: :rs767649 (human) PMID:27531892|REF_RGD_ID:25671465 12422971 MIR155 microRNA mir-155 gene DOID:684 hepatocellular carcinoma ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:decreased expression:peripheral blood mononuclear cell PMID:30710754|REF_RGD_ID:21081523 12422971 MIR155 microRNA mir-155 gene DOID:684 hepatocellular carcinoma ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:increased expression:serum PMID:29528577|REF_RGD_ID:24922222 12422971 MIR155 microRNA mir-155 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:27035278|REF_RGD_ID:21079433 12422971 MIR155 microRNA mir-155 gene DOID:8283 peritonitis ISO RGD:1608318 D RGD:9068941 20200609 RGD PMID:24708712|REF_RGD_ID:21079469 12422971 MIR155 microRNA mir-155 gene DOID:8283 peritonitis ISO RGD:1608318 D RGD:9068941 20200609 RGD associated with Hypothermia PMID:25231976|REF_RGD_ID:21079419 12422971 MIR155 microRNA mir-155 gene DOID:8557 oropharynx cancer treatment ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:28347920|REF_RGD_ID:24922223 12422971 MIR155 microRNA mir-155 gene DOID:8577 ulcerative colitis ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:29325325|PMID:30927737|REF_RGD_ID:21079443|REF_RGD_ID:24922207 12422971 MIR155 microRNA mir-155 gene DOID:8577 ulcerative colitis ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:decreased expression:feces PMID:29668922|REF_RGD_ID:24922213 12422971 MIR155 microRNA mir-155 gene DOID:8577 ulcerative colitis ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:increased expression:colon PMID:29438285|REF_RGD_ID:21403682 12422971 MIR155 microRNA mir-155 gene DOID:8649 tongue cancer ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:decreased expression:tongue PMID:30617160|REF_RGD_ID:21081517 12422971 MIR155 microRNA mir-155 gene DOID:8778 Crohn's disease ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:29325325|PMID:30927737|REF_RGD_ID:21079443|REF_RGD_ID:24922207 12422971 MIR155 microRNA mir-155 gene DOID:8778 Crohn's disease ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:decreased expression:feces PMID:29668922|REF_RGD_ID:24922213 12422971 MIR155 microRNA mir-155 gene DOID:8929 atrophic gastritis treatment ISO RGD:7489038 D RGD:9068941 20200609 RGD PMID:27293468|REF_RGD_ID:25671480 12422971 MIR155 microRNA mir-155 gene DOID:9000027 Microsatellite Instability ISO RGD:2299183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 12422971 MIR155 microRNA mir-155 gene DOID:9000081 Lymphatic Metastasis ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:26885061|PMID:27856635|REF_RGD_ID:21079444|REF_RGD_ID:21079446 12422971 MIR155 microRNA mir-155 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:2299183 D RGD:9068941 20200609 RGD associated with colon cancer PMID:29893326|REF_RGD_ID:21409756 12422971 MIR155 microRNA mir-155 gene DOID:9000099 Experimental Colitis ISO RGD:1608318 D RGD:9068941 20200609 RGD PMID:30927737|REF_RGD_ID:21079443 12422971 MIR155 microRNA mir-155 gene DOID:9000099 Experimental Colitis ISO RGD:1608318 D RGD:9068941 20200609 RGD associated with Helicobacter Infections PMID:21880981|REF_RGD_ID:21079473 12422971 MIR155 microRNA mir-155 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1608318 D RGD:9068941 20200609 RGD PMID:28246471|PMID:28461115|PMID:28752563|REF_RGD_ID:21079463|REF_RGD_ID:24922208|REF_RGD_ID:25314295 12422971 MIR155 microRNA mir-155 gene DOID:9000099 Experimental Colitis treatment ISO RGD:7489038 D RGD:9068941 20200609 RGD PMID:30253332|REF_RGD_ID:21081536 12422971 MIR155 microRNA mir-155 gene DOID:9000483 Angina Pectoris ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:decreased expression:peripheral blood mononuclear cell, plasma PMID:31866771|REF_RGD_ID:21081515 12422971 MIR155 microRNA mir-155 gene DOID:9000585 Intervertebral Disc Disease ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:decreased expression:nucleus pulposus PMID:27227700|REF_RGD_ID:24922221 12422971 MIR155 microRNA mir-155 gene DOID:9000585 Intervertebral Disc Disease treatment ISO RGD:1608318 D RGD:9068941 20200609 RGD PMID:27227700|REF_RGD_ID:24922221 12422971 MIR155 microRNA mir-155 gene DOID:9000784 Fibrosis ISO RGD:1608318 D RGD:9068941 20200609 RGD PMID:28947593|REF_RGD_ID:21079432 12422971 MIR155 microRNA mir-155 gene DOID:9000965 Neoplasm Metastasis ISO RGD:2299183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19487542|PMID:27692344 12422971 MIR155 microRNA mir-155 gene DOID:9000965 Neoplasm Metastasis ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:27856635|REF_RGD_ID:21079446 12422971 MIR155 microRNA mir-155 gene DOID:9001004 Chronic Periodontitis treatment ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:29517812|REF_RGD_ID:21403685 12422971 MIR155 microRNA mir-155 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1608318 D RGD:9068941 20200609 RGD PMID:28492308|REF_RGD_ID:25314298 12422971 MIR155 microRNA mir-155 gene DOID:9001542 Albuminuria ISO RGD:2299183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24223694 12422971 MIR155 microRNA mir-155 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:1608318 D RGD:9068941 20200609 RGD PMID:28640790|REF_RGD_ID:21079442 12422971 MIR155 microRNA mir-155 gene DOID:9003036 Oral Lichen Planus ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:29813046|REF_RGD_ID:21081545 12422971 MIR155 microRNA mir-155 gene DOID:9003036 Oral Lichen Planus ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:increased expression:blood PMID:29276184|REF_RGD_ID:24922205 12422971 MIR155 microRNA mir-155 gene DOID:9004017 Chronic Hepatitis C ISO RGD:2299183 D RGD:9068941 20200609 RGD associated with rheumatoid arthritis PMID:29575671|REF_RGD_ID:21403686 12422971 MIR155 microRNA mir-155 gene DOID:9004017 Chronic Hepatitis C ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:increased expression:serum PMID:30852102|REF_RGD_ID:21079478 12422971 MIR155 microRNA mir-155 gene DOID:9004271 Colonic Polyps ISO RGD:1608318 D RGD:9068941 20200609 RGD associated with Experimental Colitis PMID:26744471|REF_RGD_ID:11520828 12422971 MIR155 microRNA mir-155 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2299183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12422971 MIR155 microRNA mir-155 gene DOID:9004484 Sepsis ISO RGD:1608318 D RGD:9068941 20200609 RGD PMID:29979224|REF_RGD_ID:21081538 12422971 MIR155 microRNA mir-155 gene DOID:9004484 Sepsis ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:27434558|REF_RGD_ID:21079467 12422971 MIR155 microRNA mir-155 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:2299183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28315615 12422971 MIR155 microRNA mir-155 gene DOID:9004610 Acute Lung Injury ISO RGD:1608318 D RGD:9068941 20200609 RGD PMID:27371731|REF_RGD_ID:11566124 12422971 MIR155 microRNA mir-155 gene DOID:9004610 Acute Lung Injury ISO RGD:7489038 D RGD:9068941 20200609 RGD PMID:27371731|REF_RGD_ID:11566124 12422971 MIR155 microRNA mir-155 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1608318 D RGD:9068941 20200609 RGD PMID:30220274|REF_RGD_ID:21066348 12422971 MIR155 microRNA mir-155 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1608318 D RGD:9068941 20200609 RGD associated with Sepsis PMID:31949845|REF_RGD_ID:21408593 12422971 MIR155 microRNA mir-155 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1608318 D RGD:9068941 20200609 RGD associated with sepsis;miRNA:increased expression:lung PMID:28125526|REF_RGD_ID:24922218 12422971 MIR155 microRNA mir-155 gene DOID:9005172 Lung Neoplasms ISO RGD:2299183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010|PMID:27692344 12422971 MIR155 microRNA mir-155 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:20354188|PMID:29643534|REF_RGD_ID:21079418|REF_RGD_ID:21403681 12422971 MIR155 microRNA mir-155 gene DOID:9005930 Endotoxemia ISO RGD:1608318 D RGD:9068941 20200609 RGD PMID:29979224|REF_RGD_ID:21081538 12422971 MIR155 microRNA mir-155 gene DOID:9005930 Endotoxemia ISO RGD:1608318 D RGD:9068941 20200609 RGD associated with familial hyperlipidemia PMID:28970282|REF_RGD_ID:21079445 12422971 MIR155 microRNA mir-155 gene DOID:9005930 Endotoxemia treatment ISO RGD:1608318 D RGD:9068941 20200609 RGD PMID:28264607|PMID:29079998|REF_RGD_ID:21081539|REF_RGD_ID:24922204 12422971 MIR155 microRNA mir-155 gene DOID:9006162 Endotoxin Hyporesponsiveness ISO RGD:1608318 D RGD:9068941 20200609 RGD associated with Inflammation PMID:28978688|REF_RGD_ID:24922211 12422971 MIR155 microRNA mir-155 gene DOID:9006618 Liver Metastasis ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:26885061|REF_RGD_ID:21079444 12422971 MIR155 microRNA mir-155 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:1608318 D RGD:9068941 20200609 RGD PMID:26867493|REF_RGD_ID:25671474 12422971 MIR155 microRNA mir-155 gene DOID:9007153 Pediatric Crohn's Disease ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:increased expression:duodenal mucosa PMID:27468194|REF_RGD_ID:25671466 12422971 MIR155 microRNA mir-155 gene DOID:9007367 Septic Peritonitis ISO RGD:2299183 D RGD:9068941 20200609 RGD associatd with liver cirrhosis PMID:28074870|REF_RGD_ID:21079477 12422971 MIR155 microRNA mir-155 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1608318 D RGD:9068941 20200609 RGD PMID:26867493|PMID:29420849|REF_RGD_ID:21409750|REF_RGD_ID:25671474 12422971 MIR155 microRNA mir-155 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:1608318 D RGD:9068941 20200609 RGD PMID:27673475|REF_RGD_ID:25671463 12422971 MIR155 microRNA mir-155 gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:1608318 D RGD:9068941 20200609 RGD PMID:30497068|REF_RGD_ID:21408596 12422971 MIR155 microRNA mir-155 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:1608318 D RGD:9068941 20200609 RGD PMID:29937734|REF_RGD_ID:21403683 12422971 MIR155 microRNA mir-155 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:2299183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28688901 12422971 MIR155 microRNA mir-155 gene DOID:9007692 Insulin Resistance ISO RGD:1608318 D RGD:9068941 20200609 RGD PMID:27711113|REF_RGD_ID:25671464 12422971 MIR155 microRNA mir-155 gene DOID:9007692 Insulin Resistance ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:increased expression:serum PMID:29479888|REF_RGD_ID:24922220 12422971 MIR155 microRNA mir-155 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:1608318 D RGD:9068941 20200609 RGD miRNA:increased expression:Peyer's patch PMID:30206757|REF_RGD_ID:21409753 12422971 MIR155 microRNA mir-155 gene DOID:9007787 Carcinoid Tumor ISO RGD:2299183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12422971 MIR155 microRNA mir-155 gene DOID:9007964 Arsenic Poisoning ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:increased expression:serum PMID:27913196|REF_RGD_ID:25314296 12422971 MIR155 microRNA mir-155 gene DOID:9008114 Helicobacter Infections ISO RGD:1608318 D RGD:9068941 20200609 RGD miRNA:increased expression:stomach PMID:28560185|REF_RGD_ID:25671377 12422971 MIR155 microRNA mir-155 gene DOID:9008114 Helicobacter Infections ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:29250766|REF_RGD_ID:21408595 12422971 MIR155 microRNA mir-155 gene DOID:9008163 Chronic Hepatitis B ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:30735455|REF_RGD_ID:21081537 12422971 MIR155 microRNA mir-155 gene DOID:9008551 Flaviviridae Infections ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:27765085|REF_RGD_ID:25671376 12422971 MIR155 microRNA mir-155 gene DOID:9008691 Liver Injury treatment ISO RGD:1608318 D RGD:9068941 20200609 RGD PMID:30218645|REF_RGD_ID:21079440 12422971 MIR155 microRNA mir-155 gene DOID:9119 acute myeloid leukemia ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:decreased expression:peripheral blood mononuclear cell PMID:26923190|REF_RGD_ID:25671477 12422971 MIR155 microRNA mir-155 gene DOID:9119 acute myeloid leukemia ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:increased expression:blood PMID:28989535|REF_RGD_ID:24922214 12422971 MIR155 microRNA mir-155 gene DOID:9146 visceral leishmaniasis ISO RGD:1608318 D RGD:9068941 20200609 RGD PMID:31182615|REF_RGD_ID:21081525 12422971 MIR155 microRNA mir-155 gene DOID:9256 colorectal cancer ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:28418858|REF_RGD_ID:24922227 12422971 MIR155 microRNA mir-155 gene DOID:9256 colorectal cancer disease_progression ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:29361687|REF_RGD_ID:21403684 12422971 MIR155 microRNA mir-155 gene DOID:9256 colorectal cancer disease_progression ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:increased expression:serum PMID:27856635|REF_RGD_ID:21079446 12422971 MIR155 microRNA mir-155 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:decreased expression:serum PMID:27711113|PMID:30852102|REF_RGD_ID:21079478|REF_RGD_ID:25671464 12422971 MIR155 microRNA mir-155 gene DOID:9408 acute myocardial infarction ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:decreased expression:peripheral blood mononuclear cell, plasma PMID:31866771|REF_RGD_ID:21081515 12422971 MIR155 microRNA mir-155 gene DOID:9538 multiple myeloma ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:decreased expression:serum PMID:28446295|REF_RGD_ID:24922226 12422971 MIR155 microRNA mir-155 gene DOID:9538 multiple myeloma disease_progression ISO RGD:2299183 D RGD:9068941 20200609 RGD PMID:25497370|REF_RGD_ID:21079441 12422971 MIR155 microRNA mir-155 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:2299183 D RGD:9068941 20200609 RGD DNA:SNP: :rs767649 (human) PMID:28101643|REF_RGD_ID:24922224 12422971 MIR155 microRNA mir-155 gene DOID:9970 obesity ISO RGD:1608318 D RGD:9068941 20200609 RGD PMID:27856635|PMID:28970282|REF_RGD_ID:21079445|REF_RGD_ID:21079446 12422971 MIR155 microRNA mir-155 gene DOID:9970 obesity ISO RGD:2299183 D RGD:9068941 20200609 RGD miRNA:decreased expression:serum PMID:29479888|REF_RGD_ID:24922220 12423057 TSPO translocator protein gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:737564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12423057 TSPO translocator protein gene DOID:0080600 COVID-19 ISO RGD:737564 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12423057 TSPO translocator protein gene DOID:1059 intellectual disability ISO RGD:737564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12423057 TSPO translocator protein gene DOID:13413 hepatic encephalopathy ISO RGD:737564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10206825|PMID:10564534 12423057 TSPO translocator protein gene DOID:14502 cholesterol ester storage disease ISO RGD:2228 D RGD:9068941 20211008 RGD PMID:29074640|REF_RGD_ID:150429771 12423057 TSPO translocator protein gene DOID:630 genetic disease ISO RGD:737564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423057 TSPO translocator protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12423057 TSPO translocator protein gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:737564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 12423057 TSPO translocator protein gene DOID:9007996 End Stage Liver Disease ISO RGD:737564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15025246 12423065 KLF11 KLF transcription factor 11 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1605424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:25741868 12423065 KLF11 KLF transcription factor 11 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1605424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:15774581|PMID:18199129|PMID:25741868|PMID:28492532|PMID:34393998 12423065 KLF11 KLF transcription factor 11 gene DOID:0111106 maturity-onset diabetes of the young type 7 ISO RGD:1605424 D RGD:7240710 20180130 OMIM 12423065 KLF11 KLF transcription factor 11 gene DOID:0111106 maturity-onset diabetes of the young type 7 ISO RGD:1605424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 7 PMID:15774581|PMID:16199547|PMID:17130512|PMID:18199129|PMID:18593768|PMID:19122346|PMID:19843526|PMID:23589285|PMID:25741868|PMID:28492532|PMID:31124255|PMID:33538814|PMID:34393998 12423065 KLF11 KLF transcription factor 11 gene DOID:630 genetic disease ISO RGD:1605424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12423065 KLF11 KLF transcription factor 11 gene DOID:9005369 Hepatomegaly ISO RGD:1605424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12423065 KLF11 KLF transcription factor 11 gene DOID:9007692 Insulin Resistance ISO RGD:1605424 D RGD:9068941 20200609 RGD PMID:18505768|REF_RGD_ID:2311539 12423065 KLF11 KLF transcription factor 11 gene DOID:9351 diabetes mellitus ISO RGD:1605424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:15774581|PMID:17130512|PMID:18414213|PMID:18593768|PMID:19122346|PMID:19843526|PMID:25741868|PMID:28492532|PMID:33538814 12423065 KLF11 KLF transcription factor 11 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1605424 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:15774581|PMID:18199129|PMID:25741868|PMID:28492532|PMID:34393998 12423077 FSD1 fibronectin type III and SPRY domain containing 1 gene DOID:13938 amenorrhea ISO RGD:1345798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12423077 FSD1 fibronectin type III and SPRY domain containing 1 gene DOID:630 genetic disease ISO RGD:1345798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423077 FSD1 fibronectin type III and SPRY domain containing 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1345798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12423094 FBXW11 F-box and WD repeat domain containing 11 gene DOID:630 genetic disease ISO RGD:1319284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423094 FBXW11 F-box and WD repeat domain containing 11 gene DOID:9003225 NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME ISO RGD:1319284 D RGD:7240710 20201111 OMIM 12423094 FBXW11 F-box and WD repeat domain containing 11 gene DOID:9003225 NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME ISO RGD:1319284 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental, jaw, eye, and digital syndrome PMID:25741868|PMID:28492532|PMID:31402090 12423133 ROCK1 Rho associated coiled-coil containing protein kinase 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:733751 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32417439 12423133 ROCK1 Rho associated coiled-coil containing protein kinase 1 gene DOID:1059 intellectual disability ISO RGD:733751 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12423133 ROCK1 Rho associated coiled-coil containing protein kinase 1 gene DOID:3905 lung carcinoma ISO RGD:733751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:20140017 12423133 ROCK1 Rho associated coiled-coil containing protein kinase 1 gene DOID:630 genetic disease ISO RGD:733751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423133 ROCK1 Rho associated coiled-coil containing protein kinase 1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms disease_progression ISO RGD:733751 D RGD:9068941 20200609 RGD mRNA:increased expression:testis PMID:11872041|REF_RGD_ID:2298875 12423133 ROCK1 Rho associated coiled-coil containing protein kinase 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:620424 D RGD:9068941 20200609 RGD PMID:17316608|REF_RGD_ID:1642807 12423133 ROCK1 Rho associated coiled-coil containing protein kinase 1 gene DOID:9007023 Prenatal Injuries ISO RGD:733751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18956198 12423133 ROCK1 Rho associated coiled-coil containing protein kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:20140017 12423172 ABR ABR activator of RhoGEF and GTPase gene DOID:0060432 chromosome 17p13.3 duplication syndrome ISO RGD:1314808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome PMID:21681106 12423172 ABR ABR activator of RhoGEF and GTPase gene DOID:630 genetic disease ISO RGD:1314808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423172 ABR ABR activator of RhoGEF and GTPase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 12423219 MFSD3 major facilitator superfamily domain containing 3 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1605597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:28492532 12423219 MFSD3 major facilitator superfamily domain containing 3 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1605597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 12423219 MFSD3 major facilitator superfamily domain containing 3 gene DOID:4621 holoprosencephaly ISO RGD:1605597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12423219 MFSD3 major facilitator superfamily domain containing 3 gene DOID:630 genetic disease ISO RGD:1605597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423228 MGAM2 maltase-glucoamylase 2 (putative) gene DOID:10487 Hirschsprung's disease ISO RGD:9849972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 12423281 LANCL2 LanC like glutathione S-transferase 2 gene DOID:12849 autistic disorder ISO RGD:1321926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12423281 LANCL2 LanC like glutathione S-transferase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12423281 LANCL2 LanC like glutathione S-transferase 2 gene DOID:630 genetic disease ISO RGD:1321926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423295 TMC6 transmembrane channel like 6 gene DOID:13777 epidermodysplasia verruciformis ISO RGD:1351267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis PMID:12426567|PMID:15042430|PMID:16199547|PMID:17139267|PMID:17576681|PMID:22158547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 12423295 TMC6 transmembrane channel like 6 gene DOID:630 genetic disease ISO RGD:1351267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12423295 TMC6 transmembrane channel like 6 gene DOID:9004020 Epidermodysplasia Verruciformis 1 ISO RGD:1351267 D RGD:7240710 20200226 OMIM 12423295 TMC6 transmembrane channel like 6 gene DOID:9004020 Epidermodysplasia Verruciformis 1 ISO RGD:1351267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 PMID:12426567|PMID:15042430|PMID:16199547|PMID:17139267|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12423295 TMC6 transmembrane channel like 6 gene DOID:9006415 Epidermodysplasia Verruciformis 2 ISO RGD:1351267 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 12423319 OXGR1 oxoglutarate receptor 1 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1346637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 12423319 OXGR1 oxoglutarate receptor 1 gene DOID:630 genetic disease ISO RGD:1346637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423319 OXGR1 oxoglutarate receptor 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1346637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12423319 OXGR1 oxoglutarate receptor 1 gene DOID:9008821 Otitis Media with Effusion ISO RGD:1550957 D RGD:9068941 20200609 RGD PMID:23200873|REF_RGD_ID:7775025 12423331 AGMAT agmatinase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1318183 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12423331 AGMAT agmatinase gene DOID:630 genetic disease ISO RGD:1318183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423331 AGMAT agmatinase gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1318183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 12423345 NPPB natriuretic peptide B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:69139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12423345 NPPB natriuretic peptide B gene DOID:0050700 cardiomyopathy ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14745153|PMID:16127512 12423345 NPPB natriuretic peptide B gene DOID:0060224 atrial fibrillation ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15864246 12423345 NPPB natriuretic peptide B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:69139 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12423345 NPPB natriuretic peptide B gene DOID:0080322 polycystic kidney disease treatment ISO RGD:3194 D RGD:9068941 20200609 RGD PMID:28416225|REF_RGD_ID:14701038 12423345 NPPB natriuretic peptide B gene DOID:0080600 COVID-19 disease_progression ISO RGD:69139 D RGD:9068941 20200618 RGD PMID:32293449|REF_RGD_ID:30296680 12423345 NPPB natriuretic peptide B gene DOID:0080600 COVID-19 disease_progression ISO RGD:69139 D RGD:9068941 20200618 RGD associated with diabetes mellitus PMID:32345579|REF_RGD_ID:30296681 12423345 NPPB natriuretic peptide B gene DOID:0080600 COVID-19 severity ISO RGD:69139 D RGD:9068941 20200619 RGD PMID:32302954|PMID:32427582|PMID:32434874|REF_RGD_ID:30296677|REF_RGD_ID:30296679|REF_RGD_ID:30309200 12423345 NPPB natriuretic peptide B gene DOID:0080600 COVID-19 severity ISO RGD:69139 D RGD:9068941 20200625 RGD associated with hyperglycemia;protein:increased expression:serum (human) PMID:32406594|REF_RGD_ID:32698682 12423345 NPPB natriuretic peptide B gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:69139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 PMID:28492532 12423345 NPPB natriuretic peptide B gene DOID:1073 renal hypertension ISO RGD:3194 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:20139323|REF_RGD_ID:7248593 12423345 NPPB natriuretic peptide B gene DOID:1073 renal hypertension ISO RGD:3194 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22188107|REF_RGD_ID:6907405 12423345 NPPB natriuretic peptide B gene DOID:1073 renal hypertension ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:plasma PMID:12697975|REF_RGD_ID:7248660 12423345 NPPB natriuretic peptide B gene DOID:10763 hypertension ISO RGD:3194 D RGD:9068941 20200609 RGD PMID:11897768|REF_RGD_ID:70484 12423345 NPPB natriuretic peptide B gene DOID:10763 hypertension ISO RGD:69139 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19219041|PMID:24039778|PMID:30310171|PMID:32147540|PMID:9194512 12423345 NPPB natriuretic peptide B gene DOID:10763 hypertension susceptibility ISO RGD:69139 D RGD:9068941 20200609 RGD DNA:repeats PMID:17554401|REF_RGD_ID:1642191 12423345 NPPB natriuretic peptide B gene DOID:10763 hypertension treatment ISO RGD:3194 D RGD:9068941 20200609 RGD PMID:21403100|REF_RGD_ID:5685657 12423345 NPPB natriuretic peptide B gene DOID:10825 essential hypertension ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:9350073|REF_RGD_ID:7246914 12423345 NPPB natriuretic peptide B gene DOID:10923 sickle cell anemia ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20408845 12423345 NPPB natriuretic peptide B gene DOID:10923 sickle cell anemia severity ISO RGD:69139 D RGD:9068941 20200609 RGD PMID:21689089|REF_RGD_ID:5685653 12423345 NPPB natriuretic peptide B gene DOID:11394 adult respiratory distress syndrome ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Ventilator-Induced Lung Injury;protein:increased expression:serum: PMID:23837838|REF_RGD_ID:7247620 12423345 NPPB natriuretic peptide B gene DOID:114 heart disease ISO RGD:3194 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:heart PMID:10828832|REF_RGD_ID:1642294 12423345 NPPB natriuretic peptide B gene DOID:114 heart disease ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18004637 12423345 NPPB natriuretic peptide B gene DOID:114 heart disease ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome PMID:22087201|REF_RGD_ID:5685644 12423345 NPPB natriuretic peptide B gene DOID:114 heart disease ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Renal Insufficiency,chronic;protein:increased expression:serum: PMID:22038201|REF_RGD_ID:7247634 12423345 NPPB natriuretic peptide B gene DOID:11516 hypertensive heart disease ISO RGD:3194 D RGD:9068941 20200609 RGD PMID:21403100|REF_RGD_ID:5685657 12423345 NPPB natriuretic peptide B gene DOID:11981 morbid obesity ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17273651|REF_RGD_ID:1642195 12423345 NPPB natriuretic peptide B gene DOID:1287 cardiovascular system disease ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19220183 12423345 NPPB natriuretic peptide B gene DOID:12930 dilated cardiomyopathy ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16762803|PMID:18628775 12423345 NPPB natriuretic peptide B gene DOID:12930 dilated cardiomyopathy ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18068619|REF_RGD_ID:2324684 12423345 NPPB natriuretic peptide B gene DOID:12930 dilated cardiomyopathy ameliorates ISO RGD:69139 D RGD:9068941 20230415 RGD mRNA,protein:increased expression:heart (human) PMID:24275554|REF_RGD_ID:11252017 12423345 NPPB natriuretic peptide B gene DOID:13378 Kawasaki disease ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21410593|REF_RGD_ID:5685654 12423345 NPPB natriuretic peptide B gene DOID:1682 congenital heart disease ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16014188 12423345 NPPB natriuretic peptide B gene DOID:1936 atherosclerosis ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, chronic;protein:increased expression:blood: PMID:22863432|REF_RGD_ID:7247628 12423345 NPPB natriuretic peptide B gene DOID:1936 atherosclerosis susceptibility ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Hypertension,Renal; DNA:SNP:promoter: -381 T>C,rs198389 (human) PMID:19413180|REF_RGD_ID:7248594 12423345 NPPB natriuretic peptide B gene DOID:2527 nephrosis ISO RGD:3194 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8289999|REF_RGD_ID:7247315 12423345 NPPB natriuretic peptide B gene DOID:3021 acute kidney failure ISO RGD:3194 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:22209992|REF_RGD_ID:7247715 12423345 NPPB natriuretic peptide B gene DOID:3021 acute kidney failure ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Myocardial Infarction;protein:increased expression:serum: PMID:23192919|REF_RGD_ID:7247624 12423345 NPPB natriuretic peptide B gene DOID:3021 acute kidney failure ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Pneumonia;protein:increased expression:serum: PMID:23415693|REF_RGD_ID:7247622 12423345 NPPB natriuretic peptide B gene DOID:3021 acute kidney failure ISO RGD:69139 D RGD:9068941 20200609 RGD associated with lung diseases;protein:increased expression:serum: PMID:23837838|REF_RGD_ID:7247620 12423345 NPPB natriuretic peptide B gene DOID:3393 coronary artery disease ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18022110 12423345 NPPB natriuretic peptide B gene DOID:4500 hypokalemia ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20339970 12423345 NPPB natriuretic peptide B gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:11004 D RGD:9068941 20200609 RGD PMID:11729234|REF_RGD_ID:7248605 12423345 NPPB natriuretic peptide B gene DOID:5082 liver cirrhosis ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:9350073|REF_RGD_ID:7246914 12423345 NPPB natriuretic peptide B gene DOID:5082 liver cirrhosis severity ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23940514|REF_RGD_ID:7248670 12423345 NPPB natriuretic peptide B gene DOID:5199 ureteral obstruction ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26207612 12423345 NPPB natriuretic peptide B gene DOID:57 aortic valve insufficiency ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 12423345 NPPB natriuretic peptide B gene DOID:576 proteinuria ISO RGD:3194 D RGD:9068941 20200609 RGD PMID:26063669|REF_RGD_ID:12910116 12423345 NPPB natriuretic peptide B gene DOID:5844 myocardial infarction ISO RGD:3194 D RGD:9068941 20200609 RGD PMID:17256064|PMID:19858735|REF_RGD_ID:1642266|REF_RGD_ID:2324680 12423345 NPPB natriuretic peptide B gene DOID:5844 myocardial infarction ISO RGD:69139 D RGD:9068941 20200609 RGD PMID:17639095|REF_RGD_ID:7247724 12423345 NPPB natriuretic peptide B gene DOID:6000 congestive heart failure ISO RGD:3194 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:1831369|REF_RGD_ID:7247316 12423345 NPPB natriuretic peptide B gene DOID:6000 congestive heart failure ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11136700|PMID:11279304|PMID:12628948|PMID:15732037|PMID:15860969|PMID:16101196|PMID:16333235|PMID:16360360|PMID:16762801|PMID:16777915|PMID:19650993|PMID:24535859|PMID:29959987 12423345 NPPB natriuretic peptide B gene DOID:6000 congestive heart failure ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;protein:increased expression:plasma PMID:17257273|REF_RGD_ID:1642196 12423345 NPPB natriuretic peptide B gene DOID:6000 congestive heart failure ISO RGD:69139 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart,plasma PMID:11421854|REF_RGD_ID:1580139 12423345 NPPB natriuretic peptide B gene DOID:6000 congestive heart failure severity ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:2143809|REF_RGD_ID:1580140 12423345 NPPB natriuretic peptide B gene DOID:630 genetic disease ISO RGD:69139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423345 NPPB natriuretic peptide B gene DOID:6364 migraine ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22165670|REF_RGD_ID:5685652 12423345 NPPB natriuretic peptide B gene DOID:6432 pulmonary hypertension ISO RGD:3194 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16936438|REF_RGD_ID:1642203 12423345 NPPB natriuretic peptide B gene DOID:6432 pulmonary hypertension ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20408845|PMID:21351102 12423345 NPPB natriuretic peptide B gene DOID:6432 pulmonary hypertension severity ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16893710|REF_RGD_ID:1642205 12423345 NPPB natriuretic peptide B gene DOID:783 end stage renal disease ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:7606877|REF_RGD_ID:7246912 12423345 NPPB natriuretic peptide B gene DOID:784 chronic kidney disease disease_progression ISO RGD:69139 D RGD:9068941 20200609 RGD PMID:23725445|REF_RGD_ID:7246908 12423345 NPPB natriuretic peptide B gene DOID:9000543 Death ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary PMID:17296640|REF_RGD_ID:1642194 12423345 NPPB natriuretic peptide B gene DOID:9000590 Dyspnea ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20339970 12423345 NPPB natriuretic peptide B gene DOID:9000641 Pain ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27687165 12423345 NPPB natriuretic peptide B gene DOID:9000669 Ventricular Dysfunction, Right ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16014188|PMID:19650993 12423345 NPPB natriuretic peptide B gene DOID:9000790 Postoperative Complications ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23019395 12423345 NPPB natriuretic peptide B gene DOID:9000998 Brain Injuries ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19803787 12423345 NPPB natriuretic peptide B gene DOID:9000998 Brain Injuries ISO RGD:69139 D RGD:9068941 20200609 RGD associated with lung diseases;protein:increased expression:serum: PMID:23837838|REF_RGD_ID:7247620 12423345 NPPB natriuretic peptide B gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:3194 D RGD:9068941 20200609 RGD associated with Renal Insufficiency; protein:increased expression:blood: PMID:22071162|REF_RGD_ID:7247632 12423345 NPPB natriuretic peptide B gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16689991 12423345 NPPB natriuretic peptide B gene DOID:9002097 High Cardiac Output ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20339970 12423345 NPPB natriuretic peptide B gene DOID:9002165 Diabetic Nephropathies ISO RGD:11004 D RGD:9068941 20200609 RGD PMID:16917760|REF_RGD_ID:7248603 12423345 NPPB natriuretic peptide B gene DOID:9002165 Diabetic Nephropathies ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma PMID:10404802|REF_RGD_ID:7247731 12423345 NPPB natriuretic peptide B gene DOID:9002371 Cardiotoxicity ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29959987 12423345 NPPB natriuretic peptide B gene DOID:9002676 Cerebral Hemorrhage ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19803787 12423345 NPPB natriuretic peptide B gene DOID:9003234 Hypertensive Nephropathy ISO RGD:3194 D RGD:9068941 20201211 RGD PMID:26063669|REF_RGD_ID:12910116 12423345 NPPB natriuretic peptide B gene DOID:9003936 Cardiomegaly ISO RGD:3194 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA:increased expression:heart PMID:16762434|REF_RGD_ID:1642206 12423345 NPPB natriuretic peptide B gene DOID:9003936 Cardiomegaly ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15942707|PMID:15969258|PMID:18056528|PMID:21565836 12423345 NPPB natriuretic peptide B gene DOID:9003936 Cardiomegaly ameliorates ISO RGD:11004 D RGD:9068941 20230415 RGD PMID:24275554|REF_RGD_ID:11252017 12423345 NPPB natriuretic peptide B gene DOID:9003936 Cardiomegaly treatment ISO RGD:3194 D RGD:9068941 20200609 RGD PMID:23905381|REF_RGD_ID:7297051 12423345 NPPB natriuretic peptide B gene DOID:9004363 Eisenmenger Complex disease_progression ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:blood: PMID:22397941|REF_RGD_ID:7247629 12423345 NPPB natriuretic peptide B gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3194 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:16272201|REF_RGD_ID:1580154 12423345 NPPB natriuretic peptide B gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17118955|REF_RGD_ID:1642202 12423345 NPPB natriuretic peptide B gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:3194 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:24013683|REF_RGD_ID:7297044 12423345 NPPB natriuretic peptide B gene DOID:9005141 Ventricular Tachycardia ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20339970 12423345 NPPB natriuretic peptide B gene DOID:9005372 Inflammation ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19803787 12423345 NPPB natriuretic peptide B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3194 D RGD:9068941 20200609 RGD protein:increased expression:atrium myocardium, plasma PMID:17151299|REF_RGD_ID:1642199 12423345 NPPB natriuretic peptide B gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Heart Failure PMID:20438292|REF_RGD_ID:7248591 12423345 NPPB natriuretic peptide B gene DOID:9006024 Hypotension ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20339970|PMID:9194512 12423345 NPPB natriuretic peptide B gene DOID:9006205 Animal Disease Models ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12423345 NPPB natriuretic peptide B gene DOID:9006635 Hyponatremia ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Brain Injuries PMID:21808206|REF_RGD_ID:5685651 12423345 NPPB natriuretic peptide B gene DOID:9007174 Ventricular Remodeling ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 12423345 NPPB natriuretic peptide B gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:11004 D RGD:9068941 20230406 RGD associated with myocardial infarction PMID:25726944|REF_RGD_ID:11252030 12423345 NPPB natriuretic peptide B gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:69139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 12423345 NPPB natriuretic peptide B gene DOID:9007692 Insulin Resistance ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Obesity and Hypertension;protein:decreased expression:serum PMID:17392814|REF_RGD_ID:1642192 12423345 NPPB natriuretic peptide B gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3194 D RGD:9068941 20200609 RGD PMID:21168723|REF_RGD_ID:5685663 12423345 NPPB natriuretic peptide B gene DOID:9008830 Vasovagal Syncope ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Syncope;protein:increased expression:serum: PMID:23373852|REF_RGD_ID:7247623 12423345 NPPB natriuretic peptide B gene DOID:9279 hyperhomocysteinemia ISO RGD:3194 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart, plasma PMID:17303690|REF_RGD_ID:1642265 12423345 NPPB natriuretic peptide B gene DOID:9351 diabetes mellitus onset ISO RGD:69139 D RGD:9068941 20200609 RGD PMID:23733199|REF_RGD_ID:7246907 12423345 NPPB natriuretic peptide B gene DOID:9352 type 2 diabetes mellitus ISO RGD:3194 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18192848|REF_RGD_ID:2293330 12423345 NPPB natriuretic peptide B gene DOID:9352 type 2 diabetes mellitus ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22037102|REF_RGD_ID:5685645 12423345 NPPB natriuretic peptide B gene DOID:9477 pulmonary embolism disease_progression ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23562569|REF_RGD_ID:7247621 12423345 NPPB natriuretic peptide B gene DOID:9651 systolic heart failure ISO RGD:69139 D RGD:9068941 20200609 RGD PMID:23122795|REF_RGD_ID:7247627 12423345 NPPB natriuretic peptide B gene DOID:9651 systolic heart failure ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Renal Insufficiency;protein:increased expression:plasma: PMID:23725445|REF_RGD_ID:7246908 12423345 NPPB natriuretic peptide B gene DOID:9970 obesity ISO RGD:3194 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:24009719|REF_RGD_ID:7327171 12423345 NPPB natriuretic peptide B gene DOID:9970 obesity ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:21959345|REF_RGD_ID:5685647 12423352 GMDS GDP-mannose 4,6-dehydratase gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:1322234 D RGD:9068941 20200609 RGD DNA:SNPs: :rs11969985,rs2761233(human) PMID:25173105|REF_RGD_ID:13673886 12423352 GMDS GDP-mannose 4,6-dehydratase gene DOID:12271 aniridia ISO RGD:1322234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 12423352 GMDS GDP-mannose 4,6-dehydratase gene DOID:630 genetic disease ISO RGD:1322234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423366 ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 gene DOID:12849 autistic disorder ISO RGD:1351358 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20663923 12423366 ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 gene DOID:630 genetic disease ISO RGD:1351358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423379 BICDL2 BICD family like cargo adaptor 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1626601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12423379 BICDL2 BICD family like cargo adaptor 2 gene DOID:1826 epilepsy ISO RGD:1626601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12423379 BICDL2 BICD family like cargo adaptor 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1626601 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12423379 BICDL2 BICD family like cargo adaptor 2 gene DOID:630 genetic disease ISO RGD:1626601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423396 INSRR insulin receptor related receptor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1346961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12423396 INSRR insulin receptor related receptor gene DOID:0050547 familial medullary thyroid carcinoma ISO RGD:1346961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary 12423396 INSRR insulin receptor related receptor gene DOID:0070146 hereditary sensory neuropathy type 4 ISO RGD:1346961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV 12423396 INSRR insulin receptor related receptor gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1346961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12423396 INSRR insulin receptor related receptor gene DOID:0111940 immunodeficiency 42 ISO RGD:1346961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12423396 INSRR insulin receptor related receptor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1346961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12423396 INSRR insulin receptor related receptor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1346961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12423396 INSRR insulin receptor related receptor gene DOID:1540 parathyroid carcinoma ISO RGD:1346961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12423396 INSRR insulin receptor related receptor gene DOID:5812 MHC class II deficiency ISO RGD:1346961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12423396 INSRR insulin receptor related receptor gene DOID:630 genetic disease ISO RGD:1346961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423396 INSRR insulin receptor related receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12423430 PSD3 pleckstrin and Sec7 domain containing 3 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1603689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 12423430 PSD3 pleckstrin and Sec7 domain containing 3 gene DOID:3070 high grade glioma ISO RGD:1603689 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16865689 12423430 PSD3 pleckstrin and Sec7 domain containing 3 gene DOID:630 genetic disease ISO RGD:1603689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423430 PSD3 pleckstrin and Sec7 domain containing 3 gene DOID:670 amphetamine abuse ISO RGD:1603689 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12423430 PSD3 pleckstrin and Sec7 domain containing 3 gene DOID:9006836 Contracture ISO RGD:1603689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures PMID:26752647 12423468 TAFA2 TAFA chemokine like family member 2 gene DOID:2030 anxiety disorder ISO RGD:1345895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29339520 12423468 TAFA2 TAFA chemokine like family member 2 gene DOID:630 genetic disease ISO RGD:1345895 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423468 TAFA2 TAFA chemokine like family member 2 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1345895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29339520 12423475 C4BPB complement component 4 binding protein beta gene DOID:0050589 inflammatory bowel disease ISO RGD:736875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 12423475 C4BPB complement component 4 binding protein beta gene DOID:0080600 COVID-19 severity ISO RGD:736875 D RGD:9068941 20200813 RGD DNA:SNP: :rs45574833(human) PMID:32747830|REF_RGD_ID:38500238 12423475 C4BPB complement component 4 binding protein beta gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:736875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 12423475 C4BPB complement component 4 binding protein beta gene DOID:12849 autistic disorder ISO RGD:736875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12423475 C4BPB complement component 4 binding protein beta gene DOID:1540 parathyroid carcinoma ISO RGD:736875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12423475 C4BPB complement component 4 binding protein beta gene DOID:630 genetic disease ISO RGD:736875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423475 C4BPB complement component 4 binding protein beta gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736875 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12423475 C4BPB complement component 4 binding protein beta gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12423485 CARTPT CART prepropeptide gene DOID:2030 anxiety disorder ISO RGD:1605714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12600694 12423485 CARTPT CART prepropeptide gene DOID:630 genetic disease ISO RGD:1605714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423485 CARTPT CART prepropeptide gene DOID:7998 hyperthyroidism ISO RGD:1605714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12395121 12423485 CARTPT CART prepropeptide gene DOID:9002211 Hyperalgesia ISO RGD:1605714 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21167239 12423485 CARTPT CART prepropeptide gene DOID:9004354 Alcohol-Related Disorders ISO RGD:1605714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22823101 12423485 CARTPT CART prepropeptide gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12423485 CARTPT CART prepropeptide gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1605714 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20886038 12423485 CARTPT CART prepropeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:2272 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic B cell PMID:16443761|REF_RGD_ID:2313632 12423485 CARTPT CART prepropeptide gene DOID:9970 obesity ISO RGD:1605714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:11522684|PMID:15326462|PMID:25741868 12423485 CARTPT CART prepropeptide gene DOID:9970 obesity no_association ISO RGD:1605714 D RGD:9068941 20200609 RGD DNA:deletion, substitution: :1457delA, 1475A>G (human) PMID:10574510|REF_RGD_ID:2313634 12423485 CARTPT CART prepropeptide gene DOID:9970 obesity no_association ISO RGD:1605714 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr (human) PMID:10805512|REF_RGD_ID:2313633 12423485 CARTPT CART prepropeptide gene DOID:9970 obesity susceptibility ISO RGD:1605714 D RGD:7240710 20230505 OMIM 12423493 SLC9A8 solute carrier family 9 member A8 gene DOID:1307 dementia ISO RGD:1317829 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19234771 12423493 SLC9A8 solute carrier family 9 member A8 gene DOID:630 genetic disease ISO RGD:1317829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423534 PKD2L2 polycystin 2 like 2, transient receptor potential cation channel gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1321074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12423534 PKD2L2 polycystin 2 like 2, transient receptor potential cation channel gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321074 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12423534 PKD2L2 polycystin 2 like 2, transient receptor potential cation channel gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1321074 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12423534 PKD2L2 polycystin 2 like 2, transient receptor potential cation channel gene DOID:630 genetic disease ISO RGD:1321074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423534 PKD2L2 polycystin 2 like 2, transient receptor potential cation channel gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12423534 PKD2L2 polycystin 2 like 2, transient receptor potential cation channel gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321074 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12423561 ANGPTL8 angiopoietin like 8 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1607022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12423561 ANGPTL8 angiopoietin like 8 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1607022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12423561 ANGPTL8 angiopoietin like 8 gene DOID:0111254 glutaric acidemia I ISO RGD:1607022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12423561 ANGPTL8 angiopoietin like 8 gene DOID:3413 alpha-mannosidosis ISO RGD:1607022 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12423561 ANGPTL8 angiopoietin like 8 gene DOID:630 genetic disease ISO RGD:1607022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423599 KISS1 KiSS-1 metastasis suppressor gene DOID:0090073 hypogonadotropic hypogonadism 13 with or without anosmia ISO RGD:1352127 D RGD:7240710 20180130 OMIM 12423599 KISS1 KiSS-1 metastasis suppressor gene DOID:0090073 hypogonadotropic hypogonadism 13 with or without anosmia ISO RGD:1352127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 13 with or without anosmia PMID:22335740|PMID:24033266|PMID:25741868|PMID:28492532 12423599 KISS1 KiSS-1 metastasis suppressor gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1352127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12423599 KISS1 KiSS-1 metastasis suppressor gene DOID:10591 pre-eclampsia ISO RGD:1352127 D RGD:9068941 20200609 RGD mRNA:decreased expression:whole blood PMID:16952198|REF_RGD_ID:2292128 12423599 KISS1 KiSS-1 metastasis suppressor gene DOID:11054 urinary bladder cancer ISO RGD:1352127 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:loss of expression in all invasive tumors vs normal urothelium, ecpression also associated with histological stage and overall survival PMID:12547718|REF_RGD_ID:2292136 12423599 KISS1 KiSS-1 metastasis suppressor gene DOID:12849 autistic disorder ISO RGD:1352127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12423599 KISS1 KiSS-1 metastasis suppressor gene DOID:1540 parathyroid carcinoma ISO RGD:1352127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12423599 KISS1 KiSS-1 metastasis suppressor gene DOID:1923 disorder of sexual development ISO RGD:1352127 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 12423599 KISS1 KiSS-1 metastasis suppressor gene DOID:2671 transitional cell carcinoma ISO RGD:1352127 D RGD:9068941 20200609 RGD urinary bladder TCC; mRNA:increased expression:tumor:versus normal bladder, no difference between low- and high-grade tumors PMID:17164231|REF_RGD_ID:2292127 12423599 KISS1 KiSS-1 metastasis suppressor gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:1352127 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium PMID:15949424|REF_RGD_ID:2302170 12423599 KISS1 KiSS-1 metastasis suppressor gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1352127 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain metastases:10-fold lower expression in metastases vs primary tumors PMID:15592684|REF_RGD_ID:2289400 12423599 KISS1 KiSS-1 metastasis suppressor gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:1352127 D RGD:9068941 20200609 RGD PMID:18005407|REF_RGD_ID:2302169 12423599 KISS1 KiSS-1 metastasis suppressor gene DOID:4085 trophoblastic neoplasm ISO RGD:1352127 D RGD:9068941 20200609 RGD Gestational Trophoblastic Neoplasms, MeSH:D031901; protein:increased expression:plasma:pre-chemotherapy levels significantly elevated vs normal or post-chemotherapy (p<0.0001) PMID:16757546|REF_RGD_ID:2292132 12423599 KISS1 KiSS-1 metastasis suppressor gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352127 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21383688 12423599 KISS1 KiSS-1 metastasis suppressor gene DOID:630 genetic disease ISO RGD:1352127 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12423599 KISS1 KiSS-1 metastasis suppressor gene DOID:9000081 Lymphatic Metastasis ISO RGD:1352127 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21383688 12423599 KISS1 KiSS-1 metastasis suppressor gene DOID:9000217 Stomach Neoplasms ISO RGD:1352127 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12423599 KISS1 KiSS-1 metastasis suppressor gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352127 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms PMID:16283480|REF_RGD_ID:2298668 12423599 KISS1 KiSS-1 metastasis suppressor gene DOID:9001239 Delayed Puberty ISO RGD:1352127 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21527035 12423599 KISS1 KiSS-1 metastasis suppressor gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1352127 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12423599 KISS1 KiSS-1 metastasis suppressor gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1352127 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:tumor:higher in tumor vs normal tissue, significantly higher in node-positive vs node-negative (p=0.02) PMID:16320113|REF_RGD_ID:2292135 12423599 KISS1 KiSS-1 metastasis suppressor gene DOID:9008939 Breast Neoplasms severity ISO RGD:1352127 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:high levels of both KISS1 and KISS1R in ERalpha+ tumors treated with tamoxifen associated with shorter relapse-free survival PMID:17914099|REF_RGD_ID:2292123 12423599 KISS1 KiSS-1 metastasis suppressor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12423642 CD80 CD80 molecule gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:2314 D RGD:9068941 20200609 RGD PMID:10590132|REF_RGD_ID:6902938 12423642 CD80 CD80 molecule gene DOID:0060189 ileitis ISO RGD:10316 D RGD:9068941 20200609 RGD PMID:22068168|REF_RGD_ID:6902902 12423642 CD80 CD80 molecule gene DOID:10608 celiac disease ISO RGD:737082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 12423642 CD80 CD80 molecule gene DOID:1074 kidney failure ISO RGD:2314 D RGD:9068941 20200609 RGD PMID:16893502|REF_RGD_ID:6902939 12423642 CD80 CD80 molecule gene DOID:12236 primary biliary cholangitis ISO RGD:737082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 12423642 CD80 CD80 molecule gene DOID:12306 vitiligo ISO RGD:737082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 12423642 CD80 CD80 molecule gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:737082 D RGD:9068941 20200609 RGD protein:increased expression:blood, B cell PMID:21310664|REF_RGD_ID:6893670 12423642 CD80 CD80 molecule gene DOID:2841 asthma ISO RGD:10316 D RGD:9068941 20200609 RGD PMID:21051864|PMID:21352203|PMID:21440530|REF_RGD_ID:5132619|REF_RGD_ID:5132620|REF_RGD_ID:5132621 12423642 CD80 CD80 molecule gene DOID:3070 high grade glioma ISO RGD:2314 D RGD:9068941 20200609 RGD PMID:10078962|REF_RGD_ID:727266 12423642 CD80 CD80 molecule gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737082 D RGD:9068941 20200609 RGD PMID:19729666|REF_RGD_ID:4892292 12423642 CD80 CD80 molecule gene DOID:3213 demyelinating disease ISO RGD:737082 D RGD:9068941 20200609 RGD protein:increased expression:blood, B cell PMID:21310664|REF_RGD_ID:6893670 12423642 CD80 CD80 molecule gene DOID:3388 periodontal disease ISO RGD:2314 D RGD:9068941 20200609 RGD PMID:10657664|REF_RGD_ID:6902937 12423642 CD80 CD80 molecule gene DOID:4483 rhinitis ISO RGD:10316 D RGD:9068941 20200609 RGD PMID:21108691|REF_RGD_ID:5132622 12423642 CD80 CD80 molecule gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:2314 D RGD:9068941 20200609 RGD PMID:10712436|REF_RGD_ID:6902936 12423642 CD80 CD80 molecule gene DOID:630 genetic disease ISO RGD:737082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423642 CD80 CD80 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:737082 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22917707|REF_RGD_ID:6893647 12423642 CD80 CD80 molecule gene DOID:874 bacterial pneumonia ISO RGD:10316 D RGD:9068941 20200609 RGD PMID:20949109|REF_RGD_ID:4892562 12423642 CD80 CD80 molecule gene DOID:9000469 Viral Myocarditis treatment ISO RGD:10316 D RGD:9068941 20200609 RGD PMID:29039143|REF_RGD_ID:13702893 12423642 CD80 CD80 molecule gene DOID:9001488 Human Influenza ISO RGD:10316 D RGD:9068941 20200609 RGD PMID:10604996|PMID:19922665|REF_RGD_ID:5132270|REF_RGD_ID:5132623 12423642 CD80 CD80 molecule gene DOID:9002457 Experimental Arthritis ISO RGD:10316 D RGD:9068941 20200609 RGD PMID:22004797|REF_RGD_ID:6902903 12423642 CD80 CD80 molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2314 D RGD:9068941 20200609 RGD PMID:9379015|REF_RGD_ID:6902906 12423642 CD80 CD80 molecule gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10316 D RGD:9068941 20200609 RGD PMID:11160314|REF_RGD_ID:2307200 12423642 CD80 CD80 molecule gene DOID:9007356 Eczema ISO RGD:737082 D RGD:9068941 20200609 RGD DNA:SNP PMID:22192168|REF_RGD_ID:6893665 12423642 CD80 CD80 molecule gene DOID:9074 systemic lupus erythematosus ISO RGD:737082 D RGD:9068941 20200609 RGD PMID:20653937|REF_RGD_ID:6902898 12423642 CD80 CD80 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:737082 D RGD:9068941 20200609 RGD PMID:19658094|REF_RGD_ID:5132624 12423670 PDGFB platelet derived growth factor subunit B gene DOID:0050127 sinusitis ISO RGD:737124 D RGD:9068941 20200609 RGD protein: increased expression: nasal cavity epithelium PMID:21255638|REF_RGD_ID:6483060 12423670 PDGFB platelet derived growth factor subunit B gene DOID:0050589 inflammatory bowel disease ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:11780721|REF_RGD_ID:6482691 12423670 PDGFB platelet derived growth factor subunit B gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:737124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12423670 PDGFB platelet derived growth factor subunit B gene DOID:0080600 COVID-19 severity ISO RGD:737124 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 12423670 PDGFB platelet derived growth factor subunit B gene DOID:0081267 graft-versus-host disease ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:21211989|REF_RGD_ID:6482796 12423670 PDGFB platelet derived growth factor subunit B gene DOID:10286 prostate carcinoma ISO RGD:11068 D RGD:9068941 20200609 RGD PMID:23297038|REF_RGD_ID:13506769 12423670 PDGFB platelet derived growth factor subunit B gene DOID:10652 Alzheimer's disease ISO RGD:737124 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:22279551|REF_RGD_ID:10449445 12423670 PDGFB platelet derived growth factor subunit B gene DOID:10763 hypertension ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:8869081|REF_RGD_ID:10449484 12423670 PDGFB platelet derived growth factor subunit B gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:737124 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:24334449|REF_RGD_ID:10449444 12423670 PDGFB platelet derived growth factor subunit B gene DOID:11132 prostatic hypertrophy ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:22689130|REF_RGD_ID:13506770 12423670 PDGFB platelet derived growth factor subunit B gene DOID:11832 visual epilepsy ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:14980813|REF_RGD_ID:1581758 12423670 PDGFB platelet derived growth factor subunit B gene DOID:12215 oligohydramnios ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:17519529|REF_RGD_ID:2292203 12423670 PDGFB platelet derived growth factor subunit B gene DOID:127 leiomyoma ISO RGD:737124 D RGD:9068941 20200609 RGD protein:increased expression:myometrium PMID:16294022|REF_RGD_ID:2292153 12423670 PDGFB platelet derived growth factor subunit B gene DOID:13207 proliferative diabetic retinopathy ISO RGD:737124 D RGD:9068941 20200609 RGD protein:increased expression:vitreous: PMID:19799585|REF_RGD_ID:10449447 12423670 PDGFB platelet derived growth factor subunit B gene DOID:13208 background diabetic retinopathy ISO RGD:737124 D RGD:9068941 20200609 RGD protein:decreased expression:vitreous: PMID:19799585|REF_RGD_ID:10449447 12423670 PDGFB platelet derived growth factor subunit B gene DOID:13580 cholestasis ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cholangiocyte, bible duct: PMID:10424289|REF_RGD_ID:10449495 12423670 PDGFB platelet derived growth factor subunit B gene DOID:182 calcinosis ISO RGD:737124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 12423670 PDGFB platelet derived growth factor subunit B gene DOID:2224 essential thrombocythemia ISO RGD:737124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15682418 12423670 PDGFB platelet derived growth factor subunit B gene DOID:2696 Leydig cell tumor ISO RGD:737124 D RGD:9068941 20200609 RGD protein:increased expression:testis, leydig cell PMID:11994382|REF_RGD_ID:2298579 12423670 PDGFB platelet derived growth factor subunit B gene DOID:2841 asthma ISO RGD:11068 D RGD:9068941 20200609 RGD protein: increased expression PMID:21216974|REF_RGD_ID:6483071 12423670 PDGFB platelet derived growth factor subunit B gene DOID:2841 asthma ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:21216974|REF_RGD_ID:6483071 12423670 PDGFB platelet derived growth factor subunit B gene DOID:2921 glomerulonephritis treatment ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:11316849|REF_RGD_ID:10449490 12423670 PDGFB platelet derived growth factor subunit B gene DOID:3068 glioblastoma ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:21210235|REF_RGD_ID:6482799 12423670 PDGFB platelet derived growth factor subunit B gene DOID:3070 high grade glioma ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:21677873|REF_RGD_ID:13702897 12423670 PDGFB platelet derived growth factor subunit B gene DOID:3070 high grade glioma severity ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:26945107|PMID:27448842|REF_RGD_ID:13702895|REF_RGD_ID:13702896 12423670 PDGFB platelet derived growth factor subunit B gene DOID:3454 brain infarction ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:14980813|REF_RGD_ID:1581758 12423670 PDGFB platelet derived growth factor subunit B gene DOID:3507 dermatofibrosarcoma protuberans ISO RGD:737124 D RGD:7240710 20180130 OMIM 12423670 PDGFB platelet derived growth factor subunit B gene DOID:3507 dermatofibrosarcoma protuberans ISO RGD:737124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dermatofibrosarcoma protuberans PMID:28492532 12423670 PDGFB platelet derived growth factor subunit B gene DOID:3565 meningioma ISO RGD:737124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meningioma PMID:2212004|PMID:3133569|PMID:3969118 12423670 PDGFB platelet derived growth factor subunit B gene DOID:3594 choriocarcinoma ISO RGD:737124 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cytotrophoblast cell PMID:8504434|REF_RGD_ID:2292200 12423670 PDGFB platelet derived growth factor subunit B gene DOID:3770 pulmonary fibrosis ISO RGD:11068 D RGD:9068941 20200609 RGD PMID:21868503|PMID:22523431|REF_RGD_ID:6482756|REF_RGD_ID:6482831 12423670 PDGFB platelet derived growth factor subunit B gene DOID:3770 pulmonary fibrosis ISO RGD:737124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15286697 12423670 PDGFB platelet derived growth factor subunit B gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:23879920|PMID:25766258|REF_RGD_ID:13504817|REF_RGD_ID:13506650 12423670 PDGFB platelet derived growth factor subunit B gene DOID:4586 familial meningioma ISO RGD:737124 D RGD:7240710 20230505 OMIM 12423670 PDGFB platelet derived growth factor subunit B gene DOID:4586 familial meningioma ISO RGD:737124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial meningioma PMID:25741868 12423670 PDGFB platelet derived growth factor subunit B gene DOID:4989 pancreatitis ISO RGD:737124 D RGD:9068941 20200609 RGD protein: increased expression: serum PMID:21750433|REF_RGD_ID:6483007 12423670 PDGFB platelet derived growth factor subunit B gene DOID:5082 liver cirrhosis ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:22407906|REF_RGD_ID:6482858 12423670 PDGFB platelet derived growth factor subunit B gene DOID:5082 liver cirrhosis ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA: increased expression PMID:22539040|REF_RGD_ID:6482830 12423670 PDGFB platelet derived growth factor subunit B gene DOID:5199 ureteral obstruction ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney: PMID:10644908|REF_RGD_ID:10449497 12423670 PDGFB platelet derived growth factor subunit B gene DOID:5679 retinal disease ISO RGD:737124 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11840346 12423670 PDGFB platelet derived growth factor subunit B gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12423670 PDGFB platelet derived growth factor subunit B gene DOID:630 genetic disease ISO RGD:737124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12423670 PDGFB platelet derived growth factor subunit B gene DOID:6432 pulmonary hypertension ISO RGD:11068 D RGD:9068941 20200609 RGD PMID:22523431|REF_RGD_ID:6482831 12423670 PDGFB platelet derived growth factor subunit B gene DOID:6432 pulmonary hypertension ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:21819559|PMID:8447423|REF_RGD_ID:1580847|REF_RGD_ID:6482859 12423670 PDGFB platelet derived growth factor subunit B gene DOID:6432 pulmonary hypertension ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:21819559|REF_RGD_ID:6482859 12423670 PDGFB platelet derived growth factor subunit B gene DOID:679 basal ganglia disease ISO RGD:737124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 12423670 PDGFB platelet derived growth factor subunit B gene DOID:684 hepatocellular carcinoma ISO RGD:737124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20506153 12423670 PDGFB platelet derived growth factor subunit B gene DOID:7148 rheumatoid arthritis ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:1708827|REF_RGD_ID:6482653 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9000039 Spinal Cord Injuries ISO RGD:11068 D RGD:9068941 20200609 RGD PMID:21568693|REF_RGD_ID:6482306 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9000081 Lymphatic Metastasis ISO RGD:737124 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;mRNA:increased expression:lymph node PMID:17674348|REF_RGD_ID:2292173 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9000784 Fibrosis ISO RGD:11068 D RGD:9068941 20200609 RGD PMID:17195235|REF_RGD_ID:6482660 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9000784 Fibrosis ISO RGD:737124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22004089 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9000784 Fibrosis ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:11780721|PMID:8644858|REF_RGD_ID:6482673|REF_RGD_ID:6482691 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9000965 Neoplasm Metastasis ISO RGD:737124 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;mRNA, protein:increased expression:breast PMID:16596190|REF_RGD_ID:2292179 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9000998 Brain Injuries ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex, hippocampus PMID:9645955|REF_RGD_ID:11084932 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9001036 Penetrating Head Injuries ISO RGD:3283 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:7526956|REF_RGD_ID:10449485 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9001547 Tibial Fractures treatment ISO RGD:737124 D RGD:9068941 20200609 RGD associated with Osteoporosis; PMID:17676626|REF_RGD_ID:10449446 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9001600 Wounds and Injuries ISO RGD:3283 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:12533868|REF_RGD_ID:2292211 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9001600 Wounds and Injuries treatment ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:3280728|REF_RGD_ID:10449501 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:11889420|REF_RGD_ID:11080974 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney: PMID:15785371|REF_RGD_ID:10449491 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9002165 Diabetic Nephropathies ISO RGD:737124 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent PMID:15067514|REF_RGD_ID:2311646 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9002231 Fetal Growth Retardation ISO RGD:737124 D RGD:9068941 20200609 RGD mRNA:increased expression:placenta PMID:11005132|REF_RGD_ID:2311066 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9002514 Neointima ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:8585266|REF_RGD_ID:10449489 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9002699 Periapical Diseases ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:17509411|REF_RGD_ID:10449488 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:16042218|REF_RGD_ID:11080975 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:10215166|REF_RGD_ID:10449494 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9004086 AIDS Dementia Complex ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:21368226|REF_RGD_ID:6482787 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9004237 Hyperoxic Lung Injury ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA:increased expression:lung: PMID:2696512|REF_RGD_ID:10449500 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9004933 Idiopathic Basal Ganglia Calcification 5 ISO RGD:737124 D RGD:7240710 20180130 OMIM 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9004933 Idiopathic Basal Ganglia Calcification 5 ISO RGD:737124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 5 PMID:21409505|PMID:23913003|PMID:25741868 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9005372 Inflammation ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:11780721|REF_RGD_ID:6482691 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:11068 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:14685146|REF_RGD_ID:2311648 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:9763208|REF_RGD_ID:10449499 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA: increased expression: mesenteric artery PMID:21367419|REF_RGD_ID:6483042 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:8094359|REF_RGD_ID:2311650 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:12606528|REF_RGD_ID:1581759 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9006010 Gingival Hyperplasia ISO RGD:737124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8708960 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:tubule, S3 segment: PMID:10550325|REF_RGD_ID:8554477 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:737124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23913003 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9008091 Optic Nerve Injuries ISO RGD:3283 D RGD:9068941 20200609 RGD protein:decreased expression:nerve fiber: PMID:9893812|REF_RGD_ID:10449496 12423670 PDGFB platelet derived growth factor subunit B gene DOID:9008691 Liver Injury ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:8119696|REF_RGD_ID:10449498 12423698 MRPL48 mitochondrial ribosomal protein L48 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1316849 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12423698 MRPL48 mitochondrial ribosomal protein L48 gene DOID:1059 intellectual disability ISO RGD:1316849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12423698 MRPL48 mitochondrial ribosomal protein L48 gene DOID:630 genetic disease ISO RGD:1316849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423710 FAM81A family with sequence similarity 81 member A gene DOID:2717 Bloom syndrome ISO RGD:1603268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12423710 FAM81A family with sequence similarity 81 member A gene DOID:630 genetic disease ISO RGD:1603268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423710 FAM81A family with sequence similarity 81 member A gene DOID:9256 colorectal cancer ISO RGD:1603268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12423726 PPIB peptidylprolyl isomerase B gene DOID:0110349 osteogenesis imperfecta type 9 ISO RGD:732990 D RGD:7240710 20180130 OMIM 12423726 PPIB peptidylprolyl isomerase B gene DOID:0110349 osteogenesis imperfecta type 9 ISO RGD:732990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 9 PMID:19781681|PMID:20089953|PMID:20484404|PMID:21239989|PMID:21282188|PMID:25741868|PMID:27509835|PMID:28492532|PMID:29620724 12423726 PPIB peptidylprolyl isomerase B gene DOID:0110935 nemaline myopathy 6 ISO RGD:732990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12423726 PPIB peptidylprolyl isomerase B gene DOID:12347 osteogenesis imperfecta ISO RGD:732990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:19781681|PMID:21239989|PMID:21282188|PMID:25741868|PMID:27509835|PMID:28492532 12423726 PPIB peptidylprolyl isomerase B gene DOID:2717 Bloom syndrome ISO RGD:732990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12423726 PPIB peptidylprolyl isomerase B gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732990 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12423726 PPIB peptidylprolyl isomerase B gene DOID:630 genetic disease ISO RGD:732990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12423726 PPIB peptidylprolyl isomerase B gene DOID:9256 colorectal cancer ISO RGD:732990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12423735 NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1343620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12423735 NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 gene DOID:0110266 cataract 9 multiple types ISO RGD:1343620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12423735 NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 gene DOID:630 genetic disease ISO RGD:1343620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423735 NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1343620 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12423735 NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 gene DOID:9263 homocystinuria ISO RGD:1343620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12423735 NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12423746 HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 gene DOID:630 genetic disease ISO RGD:735555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423746 HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 gene DOID:9001553 Spinal Cord Compression ISO RGD:70970 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord, thoracic vertebrae (rat) PMID:20399821|REF_RGD_ID:2326108 12423746 HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12423746 HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70970 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:18452227|REF_RGD_ID:2302233 12423746 HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 gene DOID:9970 obesity ISO RGD:70970 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:1685984|REF_RGD_ID:2326155 12423766 SERBP1 SERPINE1 mRNA binding protein 1 gene DOID:1059 intellectual disability ISO RGD:1606807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12423766 SERBP1 SERPINE1 mRNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1606807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423766 SERBP1 SERPINE1 mRNA binding protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12423766 SERBP1 SERPINE1 mRNA binding protein 1 gene DOID:9000918 Disease Progression ISO RGD:1606807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12423785 C7H1orf43 chromosome 7 C1orf43 homolog gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1603678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12423785 C7H1orf43 chromosome 7 C1orf43 homolog gene DOID:0080600 COVID-19 ISO RGD:1603678 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12423785 C7H1orf43 chromosome 7 C1orf43 homolog gene DOID:0111940 immunodeficiency 42 ISO RGD:1603678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12423785 C7H1orf43 chromosome 7 C1orf43 homolog gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12423785 C7H1orf43 chromosome 7 C1orf43 homolog gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 12423785 C7H1orf43 chromosome 7 C1orf43 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1603678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12423785 C7H1orf43 chromosome 7 C1orf43 homolog gene DOID:5812 MHC class II deficiency ISO RGD:1603678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12423785 C7H1orf43 chromosome 7 C1orf43 homolog gene DOID:630 genetic disease ISO RGD:1603678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423785 C7H1orf43 chromosome 7 C1orf43 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12423796 TRAPPC6B trafficking protein particle complex subunit 6B gene DOID:630 genetic disease ISO RGD:1319611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25954003|PMID:27618451|PMID:28397838|PMID:28490743|PMID:28626029|PMID:31687267 12423796 TRAPPC6B trafficking protein particle complex subunit 6B gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319611 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12423796 TRAPPC6B trafficking protein particle complex subunit 6B gene DOID:9009122 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY ISO RGD:1319611 D RGD:7240710 20190315 OMIM 12423796 TRAPPC6B trafficking protein particle complex subunit 6B gene DOID:9009122 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY ISO RGD:1319611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | ClinVar Annotator: match by term: TRAPPC6B-related neurodevelopmental disorder PMID:25741868|PMID:25954003|PMID:27618451|PMID:28397838|PMID:28490743|PMID:28492532|PMID:28626029|PMID:31687267|PMID:32860008 12423806 SEPTIN4 septin 4 gene DOID:0050777 Joubert syndrome ISO RGD:1349607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12423806 SEPTIN4 septin 4 gene DOID:0111096 Fanconi anemia complementation group O ISO RGD:1349607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group O PMID:28492532 12423806 SEPTIN4 septin 4 gene DOID:12217 Lewy body dementia ISO RGD:1349607 D RGD:9068941 20200609 RGD PMID:12695511|REF_RGD_ID:13504670 12423806 SEPTIN4 septin 4 gene DOID:14330 Parkinson's disease ISO RGD:1349607 D RGD:9068941 20200609 RGD PMID:12695511|REF_RGD_ID:13504670 12423806 SEPTIN4 septin 4 gene DOID:630 genetic disease ISO RGD:1349607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423849 GFRA3 GDNF family receptor alpha 3 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:731370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12423849 GFRA3 GDNF family receptor alpha 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731370 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12423849 GFRA3 GDNF family receptor alpha 3 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:731370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 12423849 GFRA3 GDNF family receptor alpha 3 gene DOID:10283 prostate cancer ISO RGD:731370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12423849 GFRA3 GDNF family receptor alpha 3 gene DOID:11446 sciatic neuropathy ISO RGD:620502 D RGD:9068941 20200609 RGD mRNA:increased expression:sciatic nerve PMID:10852218|REF_RGD_ID:6218977 12423849 GFRA3 GDNF family receptor alpha 3 gene DOID:630 genetic disease ISO RGD:731370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423849 GFRA3 GDNF family receptor alpha 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12423849 GFRA3 GDNF family receptor alpha 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731370 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12423861 IP6K3 inositol hexakisphosphate kinase 3 gene DOID:0050553 JMP syndrome ISO RGD:1350328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12423861 IP6K3 inositol hexakisphosphate kinase 3 gene DOID:630 genetic disease ISO RGD:1350328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423878 PEX6 peroxisomal biogenesis factor 6 gene DOID:0050444 infantile Refsum disease ISO RGD:734166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) PMID:11873320|PMID:15542397|PMID:16199547|PMID:16530715|PMID:17190851|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19877282|PMID:21031596|PMID:22871920|PMID:23757202|PMID:24016303|PMID:24459294|PMID:25079577|PMID:25741868|PMID:26094004|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26669662|PMID:26943801|PMID:27302843|PMID:27779215|PMID:27848944|PMID:28492532|PMID:29220678|PMID:31831025|PMID:31980526|PMID:8670792|PMID:9536098 12423878 PEX6 peroxisomal biogenesis factor 6 gene DOID:0050444 infantile Refsum disease ISO RGD:734166 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B PMID:11873320|PMID:15542397|PMID:16199547|PMID:16530715|PMID:17190851|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19877282|PMID:21031596|PMID:22871920|PMID:23757202|PMID:24016303|PMID:24459294|PMID:25079577|PMID:25741868|PMID:26094004|PMID:26387595|PMID:26467025|PMID:26669662|PMID:26943801|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:29220678|PMID:29676688|PMID:31216405|PMID:31831025|PMID:31980526|PMID:33003980|PMID:33776059|PMID:8670792|PMID:9536098 12423878 PEX6 peroxisomal biogenesis factor 6 gene DOID:0050444 infantile Refsum disease ISO RGD:734166 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) PMID:10408779|PMID:11355018|PMID:11873320|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16530715|PMID:17190851|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19763152|PMID:19877282|PMID:20301621|PMID:20307669|PMID:21031596|PMID:21520333|PMID:22406018|PMID:22871920|PMID:22894767|PMID:23757202|PMID:24016303|PMID:24033266|PMID:24459294|PMID:25079577|PMID:25525159|PMID:25741868|PMID:26094004|PMID:26275793|PMID:26387595|PMID:26467025|PMID:26669662|PMID:26700162|PMID:26943801|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:28857144|PMID:29047053|PMID:29220678|PMID:29676688|PMID:31216405|PMID:31831025|PMID:31884617|PMID:31980526|PMID:32399598|PMID:33003980|PMID:33776059|PMID:8670792|PMID:8940266|PMID:9536098 12423878 PEX6 peroxisomal biogenesis factor 6 gene DOID:0050444 infantile Refsum disease ISO RGD:734166 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) PMID:10408779|PMID:11355018|PMID:11873320|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16530715|PMID:17041890|PMID:17190851|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19763152|PMID:19877282|PMID:20301621|PMID:20307669|PMID:21031596|PMID:21520333|PMID:22406018|PMID:22871920|PMID:22894767|PMID:23757202|PMID:24016303|PMID:24033266|PMID:24459294|PMID:25079577|PMID:25079599|PMID:25525159|PMID:25741868|PMID:26094004|PMID:26275793|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26669662|PMID:26700162|PMID:26943801|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:28857144|PMID:29047053|PMID:29220678|PMID:29419819|PMID:29676688|PMID:31216405|PMID:31555682|PMID:31831025|PMID:31884617|PMID:31964843|PMID:31980526|PMID:32214787|PMID:32399598|PMID:33003980|PMID:33776059|PMID:34055681|PMID:3515938|PMID:8670792|PMID:8940266|PMID:9536098 12423878 PEX6 peroxisomal biogenesis factor 6 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:734166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10408779|PMID:8940266 12423878 PEX6 peroxisomal biogenesis factor 6 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:734166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:10408779|PMID:19877282|PMID:25525159|PMID:25741868|PMID:26467025|PMID:28492532 12423878 PEX6 peroxisomal biogenesis factor 6 gene DOID:0080479 peroxisome biogenesis disorder 4A ISO RGD:734166 D RGD:7240710 20180130 OMIM 12423878 PEX6 peroxisomal biogenesis factor 6 gene DOID:0080479 peroxisome biogenesis disorder 4A ISO RGD:734166 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4A (Zellweger) PMID:10408779|PMID:11004248|PMID:11355018|PMID:11873320|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16530715|PMID:17190851|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19877282|PMID:20301621|PMID:21031596|PMID:22871920|PMID:22894767|PMID:23757202|PMID:24016303|PMID:24459294|PMID:25079577|PMID:25079599|PMID:25525159|PMID:25741868|PMID:26094004|PMID:26275793|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26593283|PMID:26669662|PMID:26700162|PMID:26943801|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:29220678|PMID:29419819|PMID:29676688|PMID:31216405|PMID:31831025|PMID:31884617|PMID:31980526|PMID:32399598|PMID:33003980|PMID:33776059|PMID:34055681|PMID:3515938|PMID:8670792|PMID:8940266|PMID:9536098 12423878 PEX6 peroxisomal biogenesis factor 6 gene DOID:0080623 Heimler syndrome 1 ISO RGD:734166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12423878 PEX6 peroxisomal biogenesis factor 6 gene DOID:0080624 Heimler syndrome 2 ISO RGD:734166 D RGD:7240710 20180130 OMIM 12423878 PEX6 peroxisomal biogenesis factor 6 gene DOID:0080624 Heimler syndrome 2 ISO RGD:734166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heimler syndrome 2 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 4C PMID:11873320|PMID:15542397|PMID:16530715|PMID:19105186|PMID:19142205|PMID:19877282|PMID:21031596|PMID:22871920|PMID:23757202|PMID:24016303|PMID:24459294|PMID:25079577|PMID:25079599|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26593283|PMID:26669662|PMID:26943801|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:29220678|PMID:29676688|PMID:31216405|PMID:31831025|PMID:32399598|PMID:33003980|PMID:33776059|PMID:34055681|PMID:8670792 12423878 PEX6 peroxisomal biogenesis factor 6 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:734166 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:15542397|PMID:19105186|PMID:19877282|PMID:24016303|PMID:25741868|PMID:26387595|PMID:28492532|PMID:29220678 12423878 PEX6 peroxisomal biogenesis factor 6 gene DOID:10003 sensorineural hearing loss ISO RGD:734166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:19877282|PMID:25079577|PMID:25741868 12423878 PEX6 peroxisomal biogenesis factor 6 gene DOID:10579 leukodystrophy ISO RGD:734166 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:25741868 12423878 PEX6 peroxisomal biogenesis factor 6 gene DOID:1059 intellectual disability ISO RGD:734166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12423878 PEX6 peroxisomal biogenesis factor 6 gene DOID:630 genetic disease ISO RGD:734166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15542397|PMID:19105186|PMID:19877282|PMID:21031596|PMID:24016303|PMID:24459294|PMID:25741868|PMID:26387595|PMID:28492532|PMID:29220678|PMID:34055681|PMID:8670792 12423878 PEX6 peroxisomal biogenesis factor 6 gene DOID:8501 fundus dystrophy ISO RGD:734166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16530715|PMID:19105186|PMID:19877282|PMID:21031596|PMID:25079577|PMID:25079599|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26943801|PMID:27302843|PMID:27848944|PMID:28492532|PMID:29676688|PMID:31216405|PMID:31831025|PMID:33003980|PMID:33776059 12423878 PEX6 peroxisomal biogenesis factor 6 gene DOID:9002864 Peroxisome Biogenesis Disorder 4B ISO RGD:734166 D RGD:7240710 20180130 OMIM 12423878 PEX6 peroxisomal biogenesis factor 6 gene DOID:9002864 Peroxisome Biogenesis Disorder 4B ISO RGD:734166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4B PMID:10408779|PMID:11355018|PMID:11873320|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16530715|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19877282|PMID:20301621|PMID:21031596|PMID:21937992|PMID:22871920|PMID:22894767|PMID:23757202|PMID:24016303|PMID:24459294|PMID:25079577|PMID:25079599|PMID:25525159|PMID:25741868|PMID:26275793|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26669662|PMID:26700162|PMID:26943801|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:29220678|PMID:29676688|PMID:31216405|PMID:31831025|PMID:31884617|PMID:31980526|PMID:32399598|PMID:33003980|PMID:33776059|PMID:34055681|PMID:3515938|PMID:8670792|PMID:8940266|PMID:9536098 12423878 PEX6 peroxisomal biogenesis factor 6 gene DOID:9006420 Zellweger Leukodystrophy ISO RGD:734166 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:10408779|PMID:19877282|PMID:25525159|PMID:25741868|PMID:26467025|PMID:28492532 12423878 PEX6 peroxisomal biogenesis factor 6 gene DOID:905 Zellweger syndrome ISO RGD:734166 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10408779|PMID:11355018|PMID:11873320|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16530715|PMID:17041890|PMID:17190851|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19763152|PMID:19877282|PMID:20301621|PMID:20307669|PMID:21031596|PMID:21520333|PMID:22406018|PMID:22871920|PMID:22894767|PMID:23757202|PMID:24016303|PMID:24033266|PMID:24459294|PMID:25079577|PMID:25079599|PMID:25525159|PMID:25741868|PMID:26094004|PMID:26275793|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26669662|PMID:26700162|PMID:26943801|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:28857144|PMID:29047053|PMID:29220678|PMID:29419819|PMID:29676688|PMID:31216405|PMID:31555682|PMID:31831025|PMID:31884617|PMID:31964843|PMID:31980526|PMID:32214787|PMID:32399598|PMID:33003980|PMID:33776059|PMID:34055681|PMID:3515938|PMID:8670792|PMID:8940266|PMID:9536098 12423878 PEX6 peroxisomal biogenesis factor 6 gene DOID:906 peroxisomal disease ISO RGD:621637 D RGD:9068941 20200609 RGD PMID:7493019|REF_RGD_ID:729462 12423901 TRIM58 tripartite motif containing 58 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1349557 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12423901 TRIM58 tripartite motif containing 58 gene DOID:1540 parathyroid carcinoma ISO RGD:1349557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12423901 TRIM58 tripartite motif containing 58 gene DOID:630 genetic disease ISO RGD:1349557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423901 TRIM58 tripartite motif containing 58 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12423901 TRIM58 tripartite motif containing 58 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1349557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 12423901 TRIM58 tripartite motif containing 58 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12423910 KBTBD2 kelch repeat and BTB domain containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12423910 KBTBD2 kelch repeat and BTB domain containing 2 gene DOID:630 genetic disease ISO RGD:1321151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423927 TRAPPC3 trafficking protein particle complex subunit 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12423927 TRAPPC3 trafficking protein particle complex subunit 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 12423927 TRAPPC3 trafficking protein particle complex subunit 3 gene DOID:630 genetic disease ISO RGD:1319308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12423939 CC2D1B coiled-coil and C2 domain containing 1B gene DOID:630 genetic disease ISO RGD:1603884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12423979 ASRGL1 asparaginase and isoaspartyl peptidase 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1343525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12423979 ASRGL1 asparaginase and isoaspartyl peptidase 1 gene DOID:1059 intellectual disability ISO RGD:1343525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12423979 ASRGL1 asparaginase and isoaspartyl peptidase 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1343525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 12423979 ASRGL1 asparaginase and isoaspartyl peptidase 1 gene DOID:630 genetic disease ISO RGD:1343525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12423997 FICD FIC domain protein adenylyltransferase gene DOID:630 genetic disease ISO RGD:1602333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424011 CBLB Cbl proto-oncogene B gene DOID:2377 multiple sclerosis ISO RGD:733798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453840 12424011 CBLB Cbl proto-oncogene B gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:733798 D RGD:9068941 20220107 RGD PMID:29384143|REF_RGD_ID:150540336 12424011 CBLB Cbl proto-oncogene B gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:733798 D RGD:9068941 20210521 RGD DNA:SNPs: :rs2305035, rs9657904 (human) PMID:29707316|REF_RGD_ID:126925239 12424011 CBLB Cbl proto-oncogene B gene DOID:3908 lung non-small cell carcinoma no_association ISO RGD:733798 D RGD:9068941 20210521 RGD DNA:SNPs: :rs3772534 (human) PMID:29707316|REF_RGD_ID:126925239 12424011 CBLB Cbl proto-oncogene B gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:733798 D RGD:9068941 20220107 RGD DNA:SNP,haplotype: :rs2305035(human) PMID:26732495|REF_RGD_ID:150540334 12424011 CBLB Cbl proto-oncogene B gene DOID:5517 stomach carcinoma disease_progression ISO RGD:733798 D RGD:9068941 20220107 RGD PMID:28334634|REF_RGD_ID:150540337 12424011 CBLB Cbl proto-oncogene B gene DOID:5517 stomach carcinoma severity ISO RGD:733798 D RGD:9068941 20220107 RGD PMID:20038312|REF_RGD_ID:150540338 12424011 CBLB Cbl proto-oncogene B gene DOID:630 genetic disease ISO RGD:733798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424011 CBLB Cbl proto-oncogene B gene DOID:9000081 Lymphatic Metastasis ISO RGD:733798 D RGD:9068941 20220107 RGD associated with stomach carcinoma; PMID:20038312|REF_RGD_ID:150540338 12424011 CBLB Cbl proto-oncogene B gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:620535 D RGD:9068941 20210521 RGD mRNA:increased expression:spinal cord PMID:30021515|REF_RGD_ID:126925240 12424011 CBLB Cbl proto-oncogene B gene DOID:9002457 Experimental Arthritis ISO RGD:620535 D RGD:9068941 20200609 RGD PMID:16984225|REF_RGD_ID:2306289 12424011 CBLB Cbl proto-oncogene B gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:733798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453840 12424011 CBLB Cbl proto-oncogene B gene DOID:9007692 Insulin Resistance ISO RGD:733799 D RGD:9068941 20200609 RGD PMID:17601987|REF_RGD_ID:2314038 12424011 CBLB Cbl proto-oncogene B gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:733798 D RGD:9068941 20220107 RGD associated with lung non-small cell carcinoma; DNA:SNP,haplotype: :rs2305035(human) PMID:26732495|REF_RGD_ID:150540334 12424011 CBLB Cbl proto-oncogene B gene DOID:9009121 lung metastasis severity ISO RGD:733798 D RGD:9068941 20220107 RGD associated with stomach carcinoma; PMID:28334634|REF_RGD_ID:150540337 12424011 CBLB Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus ISO RGD:620535 D RGD:9068941 20200609 RGD PMID:12118252|REF_RGD_ID:625457 12424011 CBLB Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus ISO RGD:733798 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs3772534 (human) PMID:15629882|REF_RGD_ID:2314040 12424011 CBLB Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus ISO RGD:733798 D RGD:9068941 20200609 RGD DNA:missense mutations: :multiple (human) PMID:18201552|REF_RGD_ID:2314037 12424011 CBLB Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:733798 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs3772534 (human) PMID:17209142|REF_RGD_ID:2314039 12424011 CBLB Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:733798 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:14961073|REF_RGD_ID:2314041 12424011 CBLB Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:620535 D RGD:9068941 20200609 RGD DNA:nonsense mutation (rat) PMID:12118252|REF_RGD_ID:625457 12424050 DNAJA4 DnaJ heat shock protein family (Hsp40) member A4 gene DOID:2717 Bloom syndrome ISO RGD:1320703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12424050 DNAJA4 DnaJ heat shock protein family (Hsp40) member A4 gene DOID:630 genetic disease ISO RGD:1320703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424050 DNAJA4 DnaJ heat shock protein family (Hsp40) member A4 gene DOID:9256 colorectal cancer ISO RGD:1320703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12424061 DOK3 docking protein 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1323508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 12424061 DOK3 docking protein 3 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1323508 D RGD:9068941 20220512 RGD DNA:SNP:3'utr: (rs2279398) (human) PMID:27354594|REF_RGD_ID:152177496 12424061 DOK3 docking protein 3 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1323508 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12424061 DOK3 docking protein 3 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1323508 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 12424061 DOK3 docking protein 3 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1323509 D RGD:9068941 20220519 RGD PMID:20139980|REF_RGD_ID:152177521 12424061 DOK3 docking protein 3 gene DOID:630 genetic disease ISO RGD:1323508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424061 DOK3 docking protein 3 gene DOID:9005172 Lung Neoplasms ISO RGD:1323508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20139980 12424061 DOK3 docking protein 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1323508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12424070 JAM3 junctional adhesion molecule 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1346212 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12424070 JAM3 junctional adhesion molecule 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1346212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12424070 JAM3 junctional adhesion molecule 3 gene DOID:11446 sciatic neuropathy ISO RGD:1303248 D RGD:9068941 20200609 RGD PMID:22950044|REF_RGD_ID:7488944 12424070 JAM3 junctional adhesion molecule 3 gene DOID:3042 allergic contact dermatitis ISO RGD:1551450 D RGD:9068941 20200609 RGD PMID:16297198|REF_RGD_ID:7488919 12424070 JAM3 junctional adhesion molecule 3 gene DOID:418 systemic scleroderma ISO RGD:1346212 D RGD:9068941 20200609 RGD protein:decreased expression:skin, endothelial cell PMID:19439502|REF_RGD_ID:7488937 12424070 JAM3 junctional adhesion molecule 3 gene DOID:418 systemic scleroderma ISO RGD:1346212 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:23001478|REF_RGD_ID:7488920 12424070 JAM3 junctional adhesion molecule 3 gene DOID:5419 schizophrenia ISO RGD:1346212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12424070 JAM3 junctional adhesion molecule 3 gene DOID:630 genetic disease ISO RGD:1346212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12424070 JAM3 junctional adhesion molecule 3 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:1551450 D RGD:9068941 20200609 RGD PMID:22323465|REF_RGD_ID:7488935 12424070 JAM3 junctional adhesion molecule 3 gene DOID:9002502 Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts ISO RGD:1346212 D RGD:7240710 20180130 OMIM 12424070 JAM3 junctional adhesion molecule 3 gene DOID:9002502 Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts ISO RGD:1346212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts PMID:21109224|PMID:23255084|PMID:25741868|PMID:25741869|PMID:28492532|PMID:32860008 12424070 JAM3 junctional adhesion molecule 3 gene DOID:9003690 Carcinoma, Lewis Lung ISO RGD:1551450 D RGD:9068941 20200609 RGD PMID:15994945|REF_RGD_ID:7488936 12424070 JAM3 junctional adhesion molecule 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1346212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12424070 JAM3 junctional adhesion molecule 3 gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1346212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:16857760|PMID:21109224|PMID:23255084|PMID:28492532 12424070 JAM3 junctional adhesion molecule 3 gene DOID:9007748 Retinal Neovascularization ISO RGD:1551450 D RGD:9068941 20200609 RGD PMID:15994945|REF_RGD_ID:7488936 12424083 HAS3 hyaluronan synthase 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1350380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12424083 HAS3 hyaluronan synthase 3 gene DOID:630 genetic disease ISO RGD:1350380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424083 HAS3 hyaluronan synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:628656 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:19915162|REF_RGD_ID:9588633 12424083 HAS3 hyaluronan synthase 3 gene DOID:9452 fatty liver disease ISO RGD:1350380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27042213 12424095 PLA2G10 phospholipase A2 group X gene DOID:630 genetic disease ISO RGD:736427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424102 RTN4RL1 reticulon 4 receptor like 1 gene DOID:630 genetic disease ISO RGD:1348623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424108 RAB38 RAB38, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:734295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12424108 RAB38 RAB38, member RAS oncogene family gene DOID:2223 platelet storage pool deficiency ISO RGD:628752 D RGD:9068941 20201211 RGD PMID:9250486|REF_RGD_ID:1302447 12424108 RAB38 RAB38, member RAS oncogene family gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:628752 D RGD:9068941 20200609 RGD PMID:19897744|REF_RGD_ID:2324690 12424108 RAB38 RAB38, member RAS oncogene family gene DOID:576 proteinuria ISO RGD:628752 D RGD:9068941 20200609 RGD PMID:15758045|REF_RGD_ID:1357409 12424108 RAB38 RAB38, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:734295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424108 RAB38 RAB38, member RAS oncogene family gene DOID:9001542 Albuminuria ISO RGD:628752 D RGD:9068941 20200609 RGD PMID:15758045|REF_RGD_ID:1357409 12424108 RAB38 RAB38, member RAS oncogene family gene DOID:9001542 Albuminuria ISO RGD:628752 D RGD:9068941 20201211 RGD compared to FHH-Tg(CAG-Rab38)1Mcwi, FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi PMID:23291471|REF_RGD_ID:13782139 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:0050127 sinusitis ISO RGD:736369 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;mRNA:increased expression:respiratory system mucosa PMID:17599561|REF_RGD_ID:4143506 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:736369 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 | ClinVar Annotator: match by term: Pulmonary fibrosis, idiopathic, susceptibility to PMID:13680361|PMID:24033266|PMID:25741868 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:736369 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:25741868 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:11339 pneumocystosis ISO RGD:1552674 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11385364|REF_RGD_ID:4143431 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:11394 adult respiratory distress syndrome ISO RGD:736369 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:17662121|REF_RGD_ID:4143379 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:11394 adult respiratory distress syndrome ISO RGD:736369 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:10588595|REF_RGD_ID:4143436 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:11396 pulmonary edema susceptibility ISO RGD:736369 D RGD:9068941 20200609 RGD DNA:SNPs:cds:1101C>T, 3192T>C, 3234T>C (human) PMID:16162765|REF_RGD_ID:4144872 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:11650 bronchopulmonary dysplasia ISO RGD:736369 D RGD:9068941 20200609 RGD DNA:snps, haplotypes:multiple (human) PMID:17264398|REF_RGD_ID:4143384 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:736369 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype: (human) PMID:11105614|REF_RGD_ID:4144876 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1552674 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:7654386|REF_RGD_ID:4143454 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:736369 D RGD:9068941 20200609 RGD protein:altered polymerization:lung PMID:8652189|REF_RGD_ID:4143450 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:12120 pulmonary alveolar proteinosis severity ISO RGD:736369 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:12612307|REF_RGD_ID:4143411 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:12716 newborn respiratory distress syndrome ISO RGD:3665 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11504697|REF_RGD_ID:4143428 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:12716 newborn respiratory distress syndrome susceptibility ISO RGD:736369 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human) PMID:11063734|REF_RGD_ID:4143433 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:736369 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:10194154|REF_RGD_ID:4143439 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:1273 respiratory syncytial virus infectious disease susceptibility ISO RGD:736369 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype: (human) PMID:19287351|REF_RGD_ID:4143495 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:13406 pulmonary sarcoidosis ISO RGD:736369 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:10543276|REF_RGD_ID:4143437 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:1485 cystic fibrosis ISO RGD:736369 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:15271694|REF_RGD_ID:4143403 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:2841 asthma ISO RGD:1552674 D RGD:9068941 20200609 RGD PMID:18926058|REF_RGD_ID:4143289 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:2841 asthma ISO RGD:3665 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:18802356|REF_RGD_ID:4143516 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:2841 asthma ISO RGD:3665 D RGD:9068941 20200609 RGD protein:decreased expression:lung, Clara cell, pneumocyte PMID:15816355|REF_RGD_ID:4143398 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:2841 asthma ISO RGD:736369 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:16629790|REF_RGD_ID:4143462 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:736369 D RGD:9068941 20200609 RGD DNA:SNP:intron:1416C>T (human) PMID:12476938|REF_RGD_ID:4144875 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:736369 D RGD:9068941 20200609 RGD DNA:SNPs:exons:307G>A, 776C>T (human) PMID:16292672|REF_RGD_ID:4144874 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:3082 interstitial lung disease ISO RGD:736369 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:11445799|REF_RGD_ID:4143430 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:3082 interstitial lung disease ISO RGD:736369 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9216212|REF_RGD_ID:4143449 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736369 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.L50V (human) PMID:19797132|REF_RGD_ID:4143281 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736369 D RGD:9068941 20211126 RGD protein:increased expression:lung PMID:19367700|REF_RGD_ID:4143288 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:736369 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:c.186G>A (human) PMID:11589345|REF_RGD_ID:4143423 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:3770 pulmonary fibrosis ISO RGD:736369 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:10543276|REF_RGD_ID:4143437 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:3770 pulmonary fibrosis disease_progression ISO RGD:736369 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19347046|REF_RGD_ID:4144870 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:3770 pulmonary fibrosis susceptibility ISO RGD:736369 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human) PMID:13680361|REF_RGD_ID:4143409 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:3827 congenital diaphragmatic hernia treatment ISO RGD:3665 D RGD:9068941 20220408 RGD PMID:11051153|REF_RGD_ID:151667435 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:552 pneumonia ISO RGD:1552674 D RGD:9068941 20200609 RGD PMID:15967375|REF_RGD_ID:4143394 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:552 pneumonia ISO RGD:736369 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:8542113|REF_RGD_ID:4143452 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:630 genetic disease ISO RGD:736369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:841 extrinsic allergic alveolitis ISO RGD:736369 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:10543276|REF_RGD_ID:4143437 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:850 lung disease ISO RGD:3665 D RGD:9068941 20200609 RGD Lung Injury PMID:17616020|REF_RGD_ID:4143505 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:850 lung disease ISO RGD:3665 D RGD:9068941 20200609 RGD Meconium Aspiration Syndrome;protein:decreased expression:lung PMID:9374572|REF_RGD_ID:4143446 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:850 lung disease ISO RGD:736369 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:16429424|REF_RGD_ID:4144871 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:850 lung disease ISO RGD:736369 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;protein:increased expression:lung PMID:9230741|REF_RGD_ID:4143448 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:874 bacterial pneumonia ISO RGD:3665 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:12169586|REF_RGD_ID:4143464 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:9000613 Hyaline Membrane Disease ISO RGD:736369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Respiratory distress associated with prematurity PMID:24033266|PMID:25741868 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1552674 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:14748931|REF_RGD_ID:4143407 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:9002918 Interstitial Lung Disease 1 ISO RGD:736369 D RGD:7240710 20211201 OMIM 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:9002918 Interstitial Lung Disease 1 ISO RGD:736369 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 1 PMID:24033266|PMID:25741868|PMID:26792177|PMID:30854216|PMID:31601679|PMID:32855221 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:9004610 Acute Lung Injury ISO RGD:736369 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pneumocyte PMID:8569184|REF_RGD_ID:4143451 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:9005724 Fungal Lung Diseases susceptibility ISO RGD:1552674 D RGD:9068941 20200609 RGD PMID:20413160|REF_RGD_ID:4143489 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:736369 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB PMID:25741868 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:9007073 Cough susceptibility ISO RGD:736369 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:cds:multiple (human) PMID:17407567|REF_RGD_ID:4144873 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:9007480 Hyperoxia ISO RGD:3665 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:11472975|REF_RGD_ID:4143429 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:9007480 Hyperoxia ISO RGD:3665 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchus, Clara cell PMID:16620381|REF_RGD_ID:4143387 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:9008386 Hydrops Fetalis ISO RGD:736369 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:7590701|REF_RGD_ID:4143453 12424136 LOC610540 pulmonary surfactant-associated protein A-like gene DOID:9970 obesity ISO RGD:3665 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15136884|REF_RGD_ID:4143472 12424149 TEX38 testis expressed 38 gene DOID:630 genetic disease ISO RGD:2298822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424164 IHO1 interactor of HORMAD1 1 gene DOID:0060852 Pierson syndrome ISO RGD:1605539 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 12424164 IHO1 interactor of HORMAD1 1 gene DOID:630 genetic disease ISO RGD:1605539 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424164 IHO1 interactor of HORMAD1 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1605539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12424188 MIR761 microRNA mir-761 gene DOID:5844 myocardial infarction ISO RGD:3497320 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23867156 12424188 MIR761 microRNA mir-761 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:3497320 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23867156 12424191 MIR27B microRNA mir-27b gene DOID:10534 stomach cancer ISO RGD:1343068 D RGD:9068941 20220224 RGD human cells in mouse model PMID:26623719|REF_RGD_ID:11564571 12424191 MIR27B microRNA mir-27b gene DOID:10534 stomach cancer ISO RGD:2295 D RGD:9068941 20220224 RGD human cells in mouse model PMID:26623719|REF_RGD_ID:11564571 12424191 MIR27B microRNA mir-27b gene DOID:10534 stomach cancer severity ISO RGD:1343068 D RGD:9068941 20220224 RGD mRNA:decreased expression:stomach (human) PMID:26623719|REF_RGD_ID:11564571 12424191 MIR27B microRNA mir-27b gene DOID:1059 intellectual disability ISO RGD:1343068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12424191 MIR27B microRNA mir-27b gene DOID:13580 cholestasis ISO RGD:1343068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12424191 MIR27B microRNA mir-27b gene DOID:4989 pancreatitis ISO RGD:1343068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12424191 MIR27B microRNA mir-27b gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1343068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25359176|PMID:28545106 12424191 MIR27B microRNA mir-27b gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1343068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12424191 MIR27B microRNA mir-27b gene DOID:9256 colorectal cancer ISO RGD:1343068 D RGD:9068941 20220908 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12424322 CDH1 cadherin 1 gene DOID:0050567 orofacial cleft ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft lip/palate | ClinVar Annotator: match by term: Orofacial cleft PMID:12800196|PMID:20921021|PMID:22470475|PMID:23197654|PMID:24033266|PMID:2449335|PMID:24493355|PMID:24728327|PMID:25593300|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26467025|PMID:26483394|PMID:26759166|PMID:27146957|PMID:27153395|PMID:27443514|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28640387|PMID:28944238|PMID:29348693|PMID:32260281 12424322 CDH1 cadherin 1 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:737413 D RGD:9068941 20200609 RGD PMID:26464646|REF_RGD_ID:11526681 12424322 CDH1 cadherin 1 gene DOID:0050938 breast lobular carcinoma ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast lobular carcinoma PMID:15235021|PMID:17660459|PMID:20373070|PMID:24763289|PMID:25186627|PMID:25741868|PMID:26270727|PMID:26467025|PMID:28492532|PMID:36988593|PMID:8557030|PMID:9744472 12424322 CDH1 cadherin 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19184424 12424322 CDH1 cadherin 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12424322 CDH1 cadherin 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17520682 12424322 CDH1 cadherin 1 gene DOID:0080345 blepharocheilodontic syndrome 1 ISO RGD:737413 D RGD:7240710 20190315 OMIM 12424322 CDH1 cadherin 1 gene DOID:0080345 blepharocheilodontic syndrome 1 ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1 PMID:11305955|PMID:11332401|PMID:11598162|PMID:11747475|PMID:11948460|PMID:12588804|PMID:12800196|PMID:14500541|PMID:15235021|PMID:16061854|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17522512|PMID:17545690|PMID:18442100|PMID:19139070|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:22470475|PMID:22703879|PMID:22723466|PMID:23197654|PMID:23264079|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:25067988|PMID:25123297|PMID:25186627|PMID:25231023|PMID:25593300|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26759166|PMID:26845104|PMID:26893459|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27566442|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28301459|PMID:28492532|PMID:28608266|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28993866|PMID:29025585|PMID:29348693|PMID:29470806|PMID:29522266|PMID:29577179|PMID:29641532|PMID:29752822|PMID:30089731|PMID:30287823|PMID:30306255|PMID:30311375|PMID:30374176|PMID:30426508|PMID:30661051|PMID:31159747|PMID:31514334|PMID:31589614|PMID:31742824|PMID:31871109|PMID:32260281|PMID:32269045|PMID:32283892|PMID:32566746|PMID:32658311|PMID:32842532|PMID:33193653|PMID:33471991|PMID:33619332|PMID:33980423|PMID:35089076|PMID:36988593|PMID:8033105|PMID:8075649|PMID:9537325 12424322 CDH1 cadherin 1 gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:737413 D RGD:7240710 20200826 OMIM 12424322 CDH1 cadherin 1 gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:10037790|PMID:10072428|PMID:10094558|PMID:10211998|PMID:10319582|PMID:10357799|PMID:10433926|PMID:10439038|PMID:10477433|PMID:10830618|PMID:10896919|PMID:10973239|PMID:11104024|PMID:11196175|PMID:11241409|PMID:11305955|PMID:11313896|PMID:11332401|PMID:11419427|PMID:11434599|PMID:11443625|PMID:11598162|PMID:11665720|PMID:11705864|PMID:11747475|PMID:11857408|PMID:11948460|PMID:11968083|PMID:11968084|PMID:11996968|PMID:12096341|PMID:12216071|PMID:12414534|PMID:12532420|PMID:12588804|PMID:12647996|PMID:12800196|PMID:12944922|PMID:14033926|PMID:14158754|PMID:14500541|PMID:14562278|PMID:14961571|PMID:15138207|PMID:15173255|PMID:15235021|PMID:15288293|PMID:15322508|PMID:15457549|PMID:15735979|PMID:15750927|PMID:15780560|PMID:15831593|PMID:16061854|PMID:16112667|PMID:16189707|PMID:16199547|PMID:16501831|PMID:16527687|PMID:16571431|PMID:16787116|PMID:16801346|PMID:16924464|PMID:16929514|PMID:16997156|PMID:17126523|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17434710|PMID:17510211|PMID:17522512|PMID:17545690|PMID:17576681|PMID:17634464|PMID:17660459|PMID:17668349|PMID:17955726|PMID:17979184|PMID:18035404|PMID:18046629|PMID:18391748|PMID:18427545|PMID:18442100|PMID:18491227|PMID:18726070|PMID:18772194|PMID:18788075|PMID:19011631|PMID:19017792|PMID:19139070|PMID:19168852|PMID:19223545|PMID:19247957|PMID:19268661|PMID:19268662|PMID:19269290|PMID:19408054|PMID:19725995|PMID:19965908|PMID:20066110|PMID:20233471|PMID:20371349|PMID:20373070|PMID:20471195|PMID:20616022|PMID:20624523|PMID:20719348|PMID:20824432|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21331337|PMID:21424370|PMID:21432908|PMID:21459793|PMID:21520333|PMID:21681551|PMID:21696387|PMID:21777349|PMID:21853084|PMID:21876083|PMID:21989054|PMID:22006311|PMID:22020549|PMID:22098830|PMID:22118538|PMID:22152101|PMID:22225527|PMID:22252131|PMID:22470475|PMID:22543498|PMID:22703879|PMID:22722829|PMID:22722839|PMID:22723466|PMID:22752307|PMID:22799331|PMID:22850631|PMID:22875147|PMID:22901170|PMID:22911296|PMID:22941188|PMID:23073328|PMID:23124477|PMID:2317870|PMID:23197654|PMID:23264079|PMID:23290073|PMID:23431106|PMID:23435907|PMID:23555086|PMID:23575477|PMID:23709761|PMID:23713947|PMID:23752020|PMID:23812922|PMID:24033266|PMID:24037103|PMID:24055113|PMID:24113346|PMID:24204729|PMID:24326041|PMID:24333020|PMID:24366306|PMID:24373500|PMID:24389957|PMID:24424122|PMID:2449335|PMID:24493355|PMID:24556621|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24784840|PMID:24817184|PMID:24969172|PMID:25067988|PMID:25123297|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25275298|PMID:25315765|PMID:25318351|PMID:25344691|PMID:25388006|PMID:25525159|PMID:25593300|PMID:25637381|PMID:25640679|PMID:25648022|PMID:25741868|PMID:25771876|PMID:25819062|PMID:25856671|PMID:25862857|PMID:25882375|PMID:25927356|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26025002|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26270727|PMID:26296696|PMID:26437033|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26486520|PMID:26517685|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26643573|PMID:26674224|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26898890|PMID:26901067|PMID:26911350|PMID:26976419|PMID:27064202|PMID:27121310|PMID:27146957|PMID:27151223|PMID:27153395|PMID:27192129|PMID:27203386|PMID:27227907|PMID:27276934|PMID:27284491|PMID:27392081|PMID:27443514|PMID:27477802|PMID:27498913|PMID:27499925|PMID:27512640|PMID:27566442|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27624909|PMID:27682646|PMID:27720647|PMID:27730413|PMID:27752808|PMID:27760322|PMID:27824116|PMID:27878467|PMID:27880784|PMID:27904775|PMID:27925203|PMID:27930734|PMID:27978560|PMID:27995193|PMID:28061482|PMID:28125075|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195815|PMID:28202063|PMID:28301459|PMID:28301460|PMID:28338653|PMID:28352678|PMID:28460635 12424322 CDH1 cadherin 1 gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:28492532|PMID:28503720|PMID:28522256|PMID:28522829|PMID:28577310|PMID:28580595|PMID:28590052|PMID:28608266|PMID:28640387|PMID:28649662|PMID:28688938|PMID:28699883|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28975465|PMID:28993866|PMID:29016666|PMID:29025585|PMID:29050249|PMID:29131691|PMID:29156750|PMID:29212164|PMID:29231860|PMID:29263802|PMID:29295527|PMID:29307626|PMID:29338689|PMID:29348693|PMID:29368341|PMID:29371908|PMID:29416795|PMID:29431110|PMID:29454568|PMID:29470806|PMID:29511593|PMID:29522266|PMID:29577179|PMID:29589180|PMID:29641532|PMID:29752822|PMID:29769627|PMID:29785153|PMID:29798843|PMID:29805042|PMID:29926297|PMID:29928469|PMID:30007404|PMID:30014492|PMID:30089731|PMID:30093976|PMID:30239046|PMID:30256826|PMID:30264118|PMID:30287823|PMID:30306255|PMID:30306390|PMID:30311375|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30466290|PMID:30542785|PMID:30563991|PMID:30613976|PMID:30661051|PMID:30716324|PMID:30745422|PMID:30895400|PMID:30935944|PMID:30982232|PMID:31077828|PMID:31159747|PMID:31206626|PMID:31246251|PMID:31296550|PMID:31422574|PMID:31465090|PMID:31511843|PMID:31514334|PMID:31589614|PMID:31600923|PMID:31638429|PMID:31642931|PMID:31742824|PMID:31780696|PMID:31815095|PMID:31841163|PMID:31843900|PMID:31871109|PMID:31942411|PMID:31986421|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32133419|PMID:32147272|PMID:32175104|PMID:32241597|PMID:32260281|PMID:32269045|PMID:32283892|PMID:32295625|PMID:32318955|PMID:32362280|PMID:32426482|PMID:32427313|PMID:32489267|PMID:32521533|PMID:32529019|PMID:32566746|PMID:32658311|PMID:32701958|PMID:32720237|PMID:32770675|PMID:32842532|PMID:32885271|PMID:32886433|PMID:32906206|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33193653|PMID:33309985|PMID:33322525|PMID:33332384|PMID:33365374|PMID:33471991|PMID:33619332|PMID:33809393|PMID:33929593|PMID:33980423|PMID:34299313|PMID:34359559|PMID:34426522|PMID:34503169|PMID:34537906|PMID:34690920|PMID:35089076|PMID:35172483|PMID:35327954|PMID:35418818|PMID:36436516|PMID:36988593|PMID:8033105|PMID:8075649|PMID:8127895|PMID:8557030|PMID:8598933|PMID:9268661|PMID:9536098|PMID:9537325|PMID:9744472|PMID:9751616 12424322 CDH1 cadherin 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:21106365|PMID:24326041|PMID:24755471|PMID:25231023|PMID:25741868|PMID:25980754|PMID:26182300|PMID:26467025|PMID:26893459|PMID:27582386|PMID:27621404|PMID:28492532|PMID:29577179|PMID:30311375 12424322 CDH1 cadherin 1 gene DOID:10283 prostate cancer ISO RGD:737413 D RGD:7240710 20180418 OMIM 12424322 CDH1 cadherin 1 gene DOID:10283 prostate cancer ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer | ClinVar Annotator: match by term: Prostate cancer, susceptibility to PMID:11305955|PMID:11332401|PMID:11598162|PMID:11747475|PMID:11948460|PMID:12588804|PMID:12800196|PMID:14500541|PMID:14961571|PMID:15235021|PMID:16061854|PMID:16189707|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17522512|PMID:17545690|PMID:18442100|PMID:19139070|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:22470475|PMID:22703879|PMID:22723466|PMID:23197654|PMID:23264079|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:25067988|PMID:25123297|PMID:25186627|PMID:25231023|PMID:25593300|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26759166|PMID:26845104|PMID:26893459|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28608266|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28993866|PMID:29025585|PMID:29348693|PMID:29522266|PMID:29577179|PMID:29641532|PMID:29752822|PMID:30089731|PMID:30287823|PMID:30311375|PMID:30374176|PMID:30426508|PMID:30661051|PMID:31159747|PMID:31514334|PMID:31589614|PMID:31742824|PMID:31871109|PMID:32269045|PMID:32283892|PMID:32566746|PMID:32658311|PMID:32842532|PMID:33193653|PMID:33471991|PMID:33619332|PMID:33980423|PMID:35089076|PMID:36988593|PMID:8075649|PMID:9537325 12424322 CDH1 cadherin 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:737413 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:18056176|REF_RGD_ID:2289487 12424322 CDH1 cadherin 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-160C>A (human) PMID:17656222|REF_RGD_ID:2289493 12424322 CDH1 cadherin 1 gene DOID:10534 stomach cancer ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Gastric cancer, familial diffuse, and cleft lip with or without cleft palate | ClinVar Annotator: match by term: Stomach cancer PMID:11948460|PMID:15235021|PMID:15831593|PMID:16061854|PMID:17221870|PMID:17522512|PMID:17545690|PMID:17576681|PMID:18427545|PMID:18442100|PMID:19269290|PMID:19725995|PMID:19965908|PMID:20373070|PMID:20719348|PMID:21424370|PMID:21681551|PMID:22723466|PMID:23264079|PMID:23709761|PMID:25741868|PMID:26025002|PMID:26072394|PMID:26467025|PMID:27682646|PMID:27880784|PMID:27995193|PMID:28492532|PMID:29025585|PMID:29769627|PMID:30287823|PMID:30426508|PMID:30745422|PMID:31514334|PMID:31589614|PMID:32362280|PMID:36988593|PMID:8557030|PMID:9536098|PMID:9744472 12424322 CDH1 cadherin 1 gene DOID:10629 microphthalmia ISO RGD:737413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia PMID:21106365|PMID:24326041|PMID:24755471|PMID:25231023|PMID:25741868|PMID:25980754|PMID:26182300|PMID:26467025|PMID:26893459|PMID:27582386|PMID:27621404|PMID:28492532|PMID:29577179|PMID:30311375 12424322 CDH1 cadherin 1 gene DOID:11054 urinary bladder cancer ISO RGD:69279 D RGD:9068941 20200609 RGD Protein:increased expression:cytoplasm PMID:17167984|REF_RGD_ID:1599549 12424322 CDH1 cadherin 1 gene DOID:11054 urinary bladder cancer ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17520682|PMID:26901067 12424322 CDH1 cadherin 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:737413 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:17760743|REF_RGD_ID:2289491 12424322 CDH1 cadherin 1 gene DOID:1380 endometrial cancer ISO RGD:737413 D RGD:7240710 20190213 OMIM 12424322 CDH1 cadherin 1 gene DOID:1520 colon carcinoma ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:25741868|PMID:28492532|PMID:30287823 12424322 CDH1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:7240710 20180711 OMIM 12424322 CDH1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12096341|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15288293|PMID:15735979|PMID:16199547|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17224074|PMID:17510211|PMID:17545690|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23124477|PMID:23197654|PMID:23290073|PMID:23431106|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30311375|PMID:30661051|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32566746|PMID:32658311|PMID:33471991|PMID:8075649|PMID:8557030 12424322 CDH1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15735979|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17224074|PMID:17545690|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23290073|PMID:23431106|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30311375|PMID:30661051|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32426482|PMID:32566746|PMID:32658311|PMID:33471991|PMID:8075649|PMID:8557030 12424322 CDH1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15735979|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17224074|PMID:17545690|PMID:17660459|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23290073|PMID:23431106|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26270727|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30311375|PMID:30661051|PMID:30745422|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32426482|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32980694|PMID:33471991|PMID:33809393|PMID:34537906|PMID:8075649|PMID:8557030 12424322 CDH1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15735979|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17224074|PMID:17545690|PMID:17660459|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21853084|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23290073|PMID:23431106|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26270727|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30306255|PMID:30311375|PMID:30661051|PMID:30745422|PMID:30982232|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32283892|PMID:32426482|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33809393|PMID:34537906|PMID:8075649|PMID:8557030 12424322 CDH1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15735979|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17224074|PMID:17545690|PMID:17660459|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21853084|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23290073|PMID:23431106|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26270727|PMID:26467025|PMID:26486520|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30306255|PMID:30311375|PMID:30661051|PMID:30745422|PMID:30982232|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31638429|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32283892|PMID:32426482|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33809393|PMID:34537906|PMID:8075649|PMID:8557030 12424322 CDH1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12096341|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15288293|PMID:15735979|PMID:16199547|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17224074|PMID:17510211|PMID:17545690|PMID:17660459|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21853084|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23124477|PMID:23197654|PMID:23290073|PMID:23431106|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26270727|PMID:26467025|PMID:26486520|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30306255|PMID:30311375|PMID:30661051|PMID:30745422|PMID:30982232|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31638429|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32283892|PMID:32426482|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33809393|PMID:34537906|PMID:8075649|PMID:8557030|PMID:9744472 12424322 CDH1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12096341|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15288293|PMID:15735979|PMID:16199547|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17224074|PMID:17510211|PMID:17545690|PMID:17660459|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21853084|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23124477|PMID:23197654|PMID:23290073|PMID:23431106|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26270727|PMID:26467025|PMID:26486520|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30306255|PMID:30311375|PMID:30661051|PMID:30745422|PMID:30982232|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31638429|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32283892|PMID:32426482|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33809393|PMID:34537906|PMID:36988593|PMID:8075649|PMID:8557030|PMID:9744472 12424322 CDH1 cadherin 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17520682 12424322 CDH1 cadherin 1 gene DOID:1793 pancreatic cancer ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18223216 12424322 CDH1 cadherin 1 gene DOID:219 colon cancer ISO RGD:737413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant tumor of colon PMID:15235021|PMID:16924464|PMID:17545690|PMID:19268661|PMID:20233471|PMID:22470475|PMID:22703879|PMID:24204729|PMID:24373500|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26467025|PMID:26486520|PMID:27153395|PMID:27582386|PMID:28492532|PMID:28767289|PMID:29131691|PMID:29926297|PMID:30311375|PMID:32906206|PMID:33471991 12424322 CDH1 cadherin 1 gene DOID:2394 ovarian cancer ISO RGD:737413 D RGD:7240710 20190213 OMIM 12424322 CDH1 cadherin 1 gene DOID:2394 ovarian cancer ISO RGD:737413 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:17126523|PMID:17434710|PMID:19268661|PMID:23435907|PMID:24493355|PMID:25741868|PMID:25927356|PMID:26467025|PMID:27276934|PMID:27582386|PMID:28135048|PMID:28492532|PMID:28580595|PMID:28649662|PMID:28767289|PMID:28873162|PMID:30287823|PMID:31642931|PMID:31815095|PMID:32091409|PMID:32521533 12424322 CDH1 cadherin 1 gene DOID:2841 asthma ISO RGD:737413 D RGD:9068941 20200609 RGD PMID:21540309|REF_RGD_ID:5132878 12424322 CDH1 cadherin 1 gene DOID:2871 endometrial carcinoma ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:11305955|PMID:11332401|PMID:11598162|PMID:11747475|PMID:11948460|PMID:12588804|PMID:12800196|PMID:14500541|PMID:15235021|PMID:16061854|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17522512|PMID:17545690|PMID:18442100|PMID:19139070|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:22470475|PMID:22703879|PMID:22723466|PMID:23197654|PMID:23264079|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:25067988|PMID:25123297|PMID:25186627|PMID:25231023|PMID:25593300|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26759166|PMID:26845104|PMID:26893459|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28352678|PMID:28492532|PMID:28608266|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28993866|PMID:29025585|PMID:29348693|PMID:29522266|PMID:29577179|PMID:29641532|PMID:29752822|PMID:30089731|PMID:30287823|PMID:30311375|PMID:30374176|PMID:30426508|PMID:30661051|PMID:31159747|PMID:31514334|PMID:31589614|PMID:31742824|PMID:31871109|PMID:32269045|PMID:32283892|PMID:32566746|PMID:32658311|PMID:32842532|PMID:33193653|PMID:33471991|PMID:33619332|PMID:33980423|PMID:35089076|PMID:36988593|PMID:8075649|PMID:9537325 12424322 CDH1 cadherin 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17660459|PMID:8557030 12424322 CDH1 cadherin 1 gene DOID:305 carcinoma ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:17520682|PMID:8075649 12424322 CDH1 cadherin 1 gene DOID:3457 invasive lobular carcinoma ISO RGD:737413 D RGD:9068941 20200609 RGD PMID:18213475|REF_RGD_ID:2289450 12424322 CDH1 cadherin 1 gene DOID:3457 invasive lobular carcinoma ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:nonsense mutation: :517insA (human) PMID:17660459|REF_RGD_ID:2289492 12424322 CDH1 cadherin 1 gene DOID:3459 breast carcinoma ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:25741868|PMID:28492532|PMID:29805042 12424322 CDH1 cadherin 1 gene DOID:3571 liver cancer ISO RGD:737414 D RGD:9068941 20220623 RGD mRNA:increased expression:liver (mouse) PMID:25319454|REF_RGD_ID:152995431 12424322 CDH1 cadherin 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10896919|PMID:11968083|PMID:12588804|PMID:12944922|PMID:14500541|PMID:14562278|PMID:16112667|PMID:16527687|PMID:16929514|PMID:17510211|PMID:19247957|PMID:19268661|PMID:19269290|PMID:21989054|PMID:22850631|PMID:24690483|PMID:24784840|PMID:25180051|PMID:25187893|PMID:25388006|PMID:25741868|PMID:25856671|PMID:26072394|PMID:26467025|PMID:26822949|PMID:27121310|PMID:27582386|PMID:28492532|PMID:28503720|PMID:28580595|PMID:29752822|PMID:30287823 12424322 CDH1 cadherin 1 gene DOID:3717 gastric adenocarcinoma severity ISO RGD:737413 D RGD:9068941 20210409 RGD mRNA:decreased expression:mucosa of stomach (human) PMID:24293408|REF_RGD_ID:125097521 12424322 CDH1 cadherin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:69279 D RGD:9068941 20200609 RGD PMID:20495078|REF_RGD_ID:5132892 12424322 CDH1 cadherin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:737413 D RGD:9068941 20200609 RGD PMID:20495078|REF_RGD_ID:5132892 12424322 CDH1 cadherin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:737414 D RGD:9068941 20200609 RGD PMID:16924102|REF_RGD_ID:5132890 12424322 CDH1 cadherin 1 gene DOID:3910 lung adenocarcinoma ISO RGD:69279 D RGD:9068941 20200609 RGD DNA:increased methylation PMID:16329148|REF_RGD_ID:1599556 12424322 CDH1 cadherin 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:25520863|REF_RGD_ID:13792554 12424322 CDH1 cadherin 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:737413 D RGD:9068941 20200609 RGD protein:decreased expression, altered localization:kidney, nucleus PMID:17906660|REF_RGD_ID:2289489 12424322 CDH1 cadherin 1 gene DOID:4450 renal cell carcinoma onset ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:LOH: : PMID:15203750|REF_RGD_ID:7242059 12424322 CDH1 cadherin 1 gene DOID:4531 mucoepidermoid carcinoma ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:15999364|REF_RGD_ID:9588574 12424322 CDH1 cadherin 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:25741868|PMID:28492532|PMID:28590052|PMID:30287823|PMID:32885271|PMID:33309985 12424322 CDH1 cadherin 1 gene DOID:5082 liver cirrhosis ISO RGD:737413 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32659284 12424322 CDH1 cadherin 1 gene DOID:5199 ureteral obstruction ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 12424322 CDH1 cadherin 1 gene DOID:557 kidney disease ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 12424322 CDH1 cadherin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10896919|PMID:11305955|PMID:11598162|PMID:11948460|PMID:11968083|PMID:12216071|PMID:12588804|PMID:12800196|PMID:12944922|PMID:14500541|PMID:14562278|PMID:15235021|PMID:15750927|PMID:16112667|PMID:16527687|PMID:16924464|PMID:16929514|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17510211|PMID:17545690|PMID:17668349|PMID:18788075|PMID:19017792|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20921021|PMID:21106365|PMID:21989054|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23431106|PMID:24033266|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24784840|PMID:24817184|PMID:25067988|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25388006|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25856671|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26976419|PMID:27121310|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28580595|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29050249|PMID:29131691|PMID:29212164|PMID:29348693|PMID:29470806|PMID:29577179|PMID:29752822|PMID:29926297|PMID:30287823|PMID:30311375|PMID:31600923|PMID:31843900|PMID:31871109|PMID:32241597|PMID:32566746|PMID:33471991|PMID:8075649|PMID:9537325|PMID:9744472 12424322 CDH1 cadherin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10896919|PMID:11305955|PMID:11598162|PMID:11948460|PMID:11968083|PMID:12216071|PMID:12588804|PMID:12800196|PMID:12944922|PMID:14500541|PMID:14562278|PMID:15235021|PMID:15750927|PMID:16112667|PMID:16527687|PMID:16924464|PMID:16929514|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17510211|PMID:17545690|PMID:17668349|PMID:18788075|PMID:19017792|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20921021|PMID:21106365|PMID:21989054|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23431106|PMID:24033266|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24784840|PMID:24817184|PMID:25067988|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25388006|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25856671|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26486520|PMID:26534844|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26976419|PMID:27121310|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29050249|PMID:29131691|PMID:29212164|PMID:29348693|PMID:29470806|PMID:29577179|PMID:29752822|PMID:29926297|PMID:30287823|PMID:30311375|PMID:30661051|PMID:31600923|PMID:31638429|PMID:31843900|PMID:31871109|PMID:32241597|PMID:32566746|PMID:32906206|PMID:33471991|PMID:8075649|PMID:9537325 12424322 CDH1 cadherin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10896919|PMID:11305955|PMID:11598162|PMID:11948460|PMID:11968083|PMID:12216071|PMID:12588804|PMID:12800196|PMID:12944922|PMID:14500541|PMID:14562278|PMID:15235021|PMID:15750927|PMID:16112667|PMID:16527687|PMID:16924464|PMID:16929514|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17510211|PMID:17545690|PMID:17668349|PMID:18788075|PMID:19017792|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20921021|PMID:21106365|PMID:21989054|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23431106|PMID:24033266|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24784840|PMID:24817184|PMID:25067988|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25388006|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25856671|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26486520|PMID:26534844|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26976419|PMID:27121310|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29050249|PMID:29131691|PMID:29212164|PMID:29348693|PMID:29470806|PMID:29577179|PMID:29752822|PMID:29926297|PMID:30287823|PMID:30311375|PMID:30661051|PMID:31600923|PMID:31638429|PMID:31843900|PMID:31871109|PMID:32241597|PMID:32566746|PMID:32906206|PMID:33471991|PMID:33929593|PMID:8075649|PMID:9537325 12424322 CDH1 cadherin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10896919|PMID:11305955|PMID:11598162|PMID:11948460|PMID:11968083|PMID:12216071|PMID:12588804|PMID:12800196|PMID:12944922|PMID:14500541|PMID:14562278|PMID:15173255|PMID:15235021|PMID:15750927|PMID:16112667|PMID:16527687|PMID:16801346|PMID:16924464|PMID:16929514|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17510211|PMID:17545690|PMID:17668349|PMID:18788075|PMID:19017792|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20921021|PMID:21106365|PMID:21989054|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23431106|PMID:23435907|PMID:24033266|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24784840|PMID:24817184|PMID:25067988|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25388006|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25856671|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26486520|PMID:26534844|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26976419|PMID:27121310|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29050249|PMID:29131691|PMID:29212164|PMID:29348693|PMID:29470806|PMID:29577179|PMID:29752822|PMID:29926297|PMID:30287823|PMID:30311375|PMID:30661051|PMID:31600923|PMID:31638429|PMID:31843900|PMID:31871109|PMID:32241597|PMID:32566746|PMID:32906206|PMID:33471991|PMID:33929593|PMID:8075649|PMID:9537325 12424322 CDH1 cadherin 1 gene DOID:630 genetic disease ISO RGD:737413 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32260281 12424322 CDH1 cadherin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:69279 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:17295234|REF_RGD_ID:2289638 12424322 CDH1 cadherin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:30697077|REF_RGD_ID:14402045 12424322 CDH1 cadherin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:737413 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:30697077|REF_RGD_ID:14402045 12424322 CDH1 cadherin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:737413 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:18837082|REF_RGD_ID:14402047 12424322 CDH1 cadherin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:737414 D RGD:9068941 20200609 RGD PMID:24840851|REF_RGD_ID:14402046 12424322 CDH1 cadherin 1 gene DOID:687 hepatoblastoma ISO RGD:737413 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:16465411|REF_RGD_ID:14402053 12424322 CDH1 cadherin 1 gene DOID:8577 ulcerative colitis ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19915572 12424322 CDH1 cadherin 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581815 12424322 CDH1 cadherin 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:hypermethylation:uterine cervix PMID:17894941|REF_RGD_ID:2289490 12424322 CDH1 cadherin 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:737413 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:17649807|REF_RGD_ID:2289498 12424322 CDH1 cadherin 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:737413 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms PMID:18097581|REF_RGD_ID:2296046 12424322 CDH1 cadherin 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric neoplasm | ClinVar Annotator: match by term: Neoplasm of stomach PMID:12216071|PMID:12944922|PMID:14500541|PMID:15235021|PMID:16112667|PMID:16924464|PMID:17261850|PMID:17668349|PMID:19017792|PMID:19247957|PMID:19268661|PMID:19269290|PMID:20921021|PMID:21989054|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23425907|PMID:23435907|PMID:24055113|PMID:24204729|PMID:24373500|PMID:24728327|PMID:25388006|PMID:25637381|PMID:25741868|PMID:25927356|PMID:25980754|PMID:26072394|PMID:26182300|PMID:26467025|PMID:26692440|PMID:26759166|PMID:27153395|PMID:27582386|PMID:28492532|PMID:28503720|PMID:28767289|PMID:28975465|PMID:29050249|PMID:29131691|PMID:29752822|PMID:29926297|PMID:30287823|PMID:30311375|PMID:32566746|PMID:33471991 12424322 CDH1 cadherin 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:737413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:12216071|PMID:12944922|PMID:14500541|PMID:15235021|PMID:16112667|PMID:16924464|PMID:17261850|PMID:17545690|PMID:17668349|PMID:19017792|PMID:19247957|PMID:19268661|PMID:19269290|PMID:20233471|PMID:20921021|PMID:21989054|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23435907|PMID:24055113|PMID:24204729|PMID:24373500|PMID:24728327|PMID:25388006|PMID:25637381|PMID:25741868|PMID:25927356|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26467025|PMID:26486520|PMID:26692440|PMID:26759166|PMID:27153395|PMID:27582386|PMID:28492532|PMID:28503720|PMID:28767289|PMID:28975465|PMID:29050249|PMID:29131691|PMID:29752822|PMID:29926297|PMID:30287823|PMID:30311375|PMID:31642931|PMID:32521533|PMID:32566746|PMID:32906206|PMID:33471991 12424322 CDH1 cadherin 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12424322 CDH1 cadherin 1 gene DOID:9000784 Fibrosis ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 12424322 CDH1 cadherin 1 gene DOID:9000918 Disease Progression ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19839049 12424322 CDH1 cadherin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17520682|PMID:22580338 12424322 CDH1 cadherin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737413 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:18008331|REF_RGD_ID:2289488 12424322 CDH1 cadherin 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:737413 D RGD:9068941 20220616 RGD associated with stomach cancer; human cells in mouse model PMID:27431311|REF_RGD_ID:152995400 12424322 CDH1 cadherin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69279 D RGD:9068941 20220520 RGD associated with Schistosomiasis Japonica; mRNA:decreased expression:liver (rat) PMID:29323718|REF_RGD_ID:38599216 12424322 CDH1 cadherin 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20118494|PMID:25319454 12424322 CDH1 cadherin 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27224422 12424322 CDH1 cadherin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16813949|PMID:22581815|PMID:29295717|PMID:29610475 12424322 CDH1 cadherin 1 gene DOID:9002467 Mycoplasma Infections ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20179380 12424322 CDH1 cadherin 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:11747475|PMID:15235021|PMID:19139070|PMID:20373070|PMID:22470475|PMID:23709761|PMID:24728327|PMID:25067988|PMID:25123297|PMID:25186627|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26467025|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28166811|PMID:28492532|PMID:28608266|PMID:28640387|PMID:28767289|PMID:28961279|PMID:28993866|PMID:29522266|PMID:29641532|PMID:29752822|PMID:30089731|PMID:30287823|PMID:30311375|PMID:30374176|PMID:30426508|PMID:31159747|PMID:31871109|PMID:32566746|PMID:8075649 12424322 CDH1 cadherin 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:11305955|PMID:11332401|PMID:11598162|PMID:11747475|PMID:11948460|PMID:12588804|PMID:12800196|PMID:14500541|PMID:15235021|PMID:16061854|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17522512|PMID:17545690|PMID:18442100|PMID:19139070|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:22470475|PMID:22703879|PMID:22723466|PMID:23197654|PMID:23264079|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:25067988|PMID:25123297|PMID:25186627|PMID:25231023|PMID:25593300|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26759166|PMID:26845104|PMID:26893459|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28608266|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28993866|PMID:29025585|PMID:29348693|PMID:29522266|PMID:29577179|PMID:29641532|PMID:29752822|PMID:30089731|PMID:30287823|PMID:30311375|PMID:30374176|PMID:30426508|PMID:30661051|PMID:31159747|PMID:31514334|PMID:31589614|PMID:31742824|PMID:31871109|PMID:32269045|PMID:32283892|PMID:32566746|PMID:32658311|PMID:32842532|PMID:33193653|PMID:33471991|PMID:33619332|PMID:33980423|PMID:35089076|PMID:8075649|PMID:9537325 12424322 CDH1 cadherin 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:11305955|PMID:11332401|PMID:11598162|PMID:11747475|PMID:11948460|PMID:12588804|PMID:12800196|PMID:14500541|PMID:15235021|PMID:16061854|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17522512|PMID:17545690|PMID:18442100|PMID:19139070|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:22470475|PMID:22703879|PMID:22723466|PMID:23197654|PMID:23264079|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:25067988|PMID:25123297|PMID:25186627|PMID:25231023|PMID:25593300|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26759166|PMID:26845104|PMID:26893459|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28608266|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28993866|PMID:29025585|PMID:29348693|PMID:29522266|PMID:29577179|PMID:29641532|PMID:29752822|PMID:30089731|PMID:30287823|PMID:30311375|PMID:30374176|PMID:30426508|PMID:30661051|PMID:31159747|PMID:31514334|PMID:31589614|PMID:31742824|PMID:31871109|PMID:32269045|PMID:32283892|PMID:32566746|PMID:32658311|PMID:32842532|PMID:33193653|PMID:33471991|PMID:33619332|PMID:33980423|PMID:35089076|PMID:36988593|PMID:8075649|PMID:9537325 12424322 CDH1 cadherin 1 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:*54C>T (human) PMID:18035404|REF_RGD_ID:2289494 12424322 CDH1 cadherin 1 gene DOID:9002955 Nerve Degeneration ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12387456 12424322 CDH1 cadherin 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17520682 12424322 CDH1 cadherin 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:hypermethylation:uterine cervix PMID:17894941|REF_RGD_ID:2289490 12424322 CDH1 cadherin 1 gene DOID:9003566 Mesothelioma ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15639718 12424322 CDH1 cadherin 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:737413 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium PMID:18295959|REF_RGD_ID:2296045 12424322 CDH1 cadherin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19839049|PMID:22580338 12424322 CDH1 cadherin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12424322 CDH1 cadherin 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14961571|PMID:16189707 12424322 CDH1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10037790|PMID:10072428|PMID:10094558|PMID:10211998|PMID:10319582|PMID:10357799|PMID:10477433|PMID:10896919|PMID:10973239|PMID:11196175|PMID:11241409|PMID:11305955|PMID:11313896|PMID:11419427|PMID:11598162|PMID:11665720|PMID:11705864|PMID:11747475|PMID:11857408|PMID:11948460|PMID:11968083|PMID:11968084|PMID:12096341|PMID:12216071|PMID:12414534|PMID:12532420|PMID:12588804|PMID:12647996|PMID:12800196|PMID:12944922|PMID:14158754|PMID:14500541|PMID:14562278|PMID:15138207|PMID:15173255|PMID:15235021|PMID:15288293|PMID:15313375|PMID:15322508|PMID:15457549|PMID:15735979|PMID:15750927|PMID:15831593|PMID:16061854|PMID:16112667|PMID:16199547|PMID:16501831|PMID:16527687|PMID:16787116|PMID:16801346|PMID:16924464|PMID:16929514|PMID:16997156|PMID:17126523|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17434710|PMID:17510211|PMID:17522512|PMID:17545690|PMID:17576681|PMID:17634464|PMID:17660459|PMID:17668349|PMID:18046629|PMID:18391748|PMID:18427545|PMID:18442100|PMID:18726070|PMID:18772194|PMID:18788075|PMID:19011631|PMID:19017792|PMID:19139070|PMID:19223545|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19408054|PMID:19725995|PMID:19965908|PMID:20066110|PMID:20233471|PMID:20371349|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21331337|PMID:21424370|PMID:21681551|PMID:21696387|PMID:21777349|PMID:21989054|PMID:22006311|PMID:22020549|PMID:22098830|PMID:22152101|PMID:22225527|PMID:22252131|PMID:22470475|PMID:22543498|PMID:22703879|PMID:22722829|PMID:22722839|PMID:22723466|PMID:22752307|PMID:22788692|PMID:22850631|PMID:22911296|PMID:22941188|PMID:23073328|PMID:23124477|PMID:2317870|PMID:23197654|PMID:23264079|PMID:23290073|PMID:23425907|PMID:23431106|PMID:23435907|PMID:23555086|PMID:23575477|PMID:23709761|PMID:23752020|PMID:24033266|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24366306|PMID:24373500|PMID:24389957|PMID:24424122|PMID:2449335|PMID:24493355|PMID:24556621|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24784840|PMID:24817184|PMID:24969172|PMID:25067988|PMID:25123297|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25275298|PMID:25315765|PMID:25318351|PMID:25344691|PMID:25388006|PMID:25525159|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25771876|PMID:25819062|PMID:25856671|PMID:25862857|PMID:25882375|PMID:25927356|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26025002|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26270727|PMID:26296696|PMID:26467025|PMID:26483394|PMID:26486520|PMID:26517685|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26674224|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27064202|PMID:27121310|PMID:27146957|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27276934|PMID:27284491|PMID:27392081|PMID:27443514|PMID:27477802|PMID:27498913|PMID:27499925|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27682646|PMID:27720647|PMID:27730413|PMID:27752808|PMID:27760322|PMID:27824116|PMID:27878467|PMID:27880784|PMID:27904775|PMID:27925203|PMID:27930734|PMID:27978560|PMID:27995193|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195815|PMID:28202063|PMID:28301459|PMID:28301460|PMID:28338653|PMID:28352678|PMID:28460635|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28522829|PMID:28580595|PMID:28608266|PMID:28640387|PMID:28649662|PMID:28688938|PMID:28699883|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28975465|PMID:28993866|PMID:29016666|PMID:29025585|PMID:29050249|PMID:29131691|PMID:29156750|PMID:29212164|PMID:29263802|PMID:29295527|PMID:29338689|PMID:29348693|PMID:29368341|PMID:29371908|PMID:29416795|PMID:29431110|PMID:29454568|PMID:29470806|PMID:29522266|PMID:29577179|PMID:29589180|PMID:29641532|PMID:29752822|PMID:29769627|PMID:29785153|PMID:29798843|PMID:29805042|PMID:29926297|PMID:30014492|PMID:30089731|PMID:30093976|PMID:30264118 12424322 CDH1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30287823|PMID:30306255|PMID:30306390|PMID:30311375|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30542785|PMID:30563991|PMID:30661051|PMID:30716324|PMID:30745422|PMID:30895400|PMID:30935944|PMID:31077828|PMID:31159747|PMID:31206626|PMID:31246251|PMID:31296550|PMID:31422574|PMID:31465090|PMID:31514334|PMID:31600923|PMID:31642931|PMID:31780696|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31986421|PMID:32068069|PMID:32107087|PMID:32133419|PMID:32147272|PMID:32241597|PMID:32260281|PMID:32269045|PMID:32318955|PMID:32362280|PMID:32566746|PMID:32658311|PMID:32770675|PMID:32957588|PMID:32980694|PMID:33471991|PMID:34299313|PMID:8075649|PMID:8127895|PMID:9268661|PMID:9536098|PMID:9537325|PMID:9744472|PMID:9751616 12424322 CDH1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10072428|PMID:10094558|PMID:10211998|PMID:10319582|PMID:10357799|PMID:10477433|PMID:10896919|PMID:10973239|PMID:11196175|PMID:11241409|PMID:11305955|PMID:11313896|PMID:11332401|PMID:11419427|PMID:11598162|PMID:11665720|PMID:11705864|PMID:11747475|PMID:11857408|PMID:11948460|PMID:11968083|PMID:11968084|PMID:12216071|PMID:12414534|PMID:12532420|PMID:12588804|PMID:12647996|PMID:12800196|PMID:12944922|PMID:14158754|PMID:14500541|PMID:14562278|PMID:14630673|PMID:15138207|PMID:15173255|PMID:15235021|PMID:15313375|PMID:15322508|PMID:15457549|PMID:15735979|PMID:15750927|PMID:15831593|PMID:16061854|PMID:16112667|PMID:16199547|PMID:16501831|PMID:16527687|PMID:16787116|PMID:16801346|PMID:16924464|PMID:16929514|PMID:16997156|PMID:17126523|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17434710|PMID:17510211|PMID:17522512|PMID:17545690|PMID:17576681|PMID:17634464|PMID:17660459|PMID:17668349|PMID:18046629|PMID:18391748|PMID:18427545|PMID:18442100|PMID:18772194|PMID:18788075|PMID:19011631|PMID:19017792|PMID:19139070|PMID:19223545|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19725995|PMID:19965908|PMID:20233471|PMID:20371349|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:21681551|PMID:21696387|PMID:21777349|PMID:21989054|PMID:22006311|PMID:22020549|PMID:22098830|PMID:22152101|PMID:22225527|PMID:22252131|PMID:22470475|PMID:22543498|PMID:22703879|PMID:22722829|PMID:22722839|PMID:22723466|PMID:22752307|PMID:22788692|PMID:22850631|PMID:22911296|PMID:22941188|PMID:23073328|PMID:23197654|PMID:23264079|PMID:23290073|PMID:23431106|PMID:23435907|PMID:23555086|PMID:23575477|PMID:23709761|PMID:23752020|PMID:24033266|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24366306|PMID:24373500|PMID:24389957|PMID:24424122|PMID:2449335|PMID:24493355|PMID:24556621|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24784840|PMID:24817184|PMID:24969172|PMID:25067988|PMID:25123297|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25275298|PMID:25315765|PMID:25318351|PMID:25344691|PMID:25388006|PMID:25525159|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25771876|PMID:25819062|PMID:25856671|PMID:25862857|PMID:25882375|PMID:25927356|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26025002|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26270727|PMID:26296696|PMID:26467025|PMID:26483394|PMID:26486520|PMID:26517685|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26674224|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27064202|PMID:27121310|PMID:27146957|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27276934|PMID:27284491|PMID:27392081|PMID:27443514|PMID:27477802|PMID:27498913|PMID:27499925|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27682646|PMID:27720647|PMID:27752808|PMID:27760322|PMID:27824116|PMID:27878467|PMID:27880784|PMID:27904775|PMID:27925203|PMID:27930734|PMID:27978560|PMID:27995193|PMID:28125075|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195815|PMID:28202063|PMID:28301459|PMID:28301460|PMID:28338653|PMID:28352678|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28522829|PMID:28580595|PMID:28608266|PMID:28640387|PMID:28649662|PMID:28688938|PMID:28699883|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28975465|PMID:28993866|PMID:29016666|PMID:29025585|PMID:29050249|PMID:29131691|PMID:29156750|PMID:29212164|PMID:29263802|PMID:29295527|PMID:29338689|PMID:29348693|PMID:29368341|PMID:29371908|PMID:29416795|PMID:29431110|PMID:29454568|PMID:29470806|PMID:29522266|PMID:29577179|PMID:29589180|PMID:29641532|PMID:29752822|PMID:29769627|PMID:29785153|PMID:29798843|PMID:29805042|PMID:29926297|PMID:29928469|PMID:30014492|PMID:30089731|PMID:30093976|PMID:30264118|PMID:30287823|PMID:30306255|PMID:30306390|PMID:30311375|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30542785 12424322 CDH1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30563991|PMID:30661051|PMID:30716324|PMID:30745422|PMID:30895400|PMID:30935944|PMID:31077828|PMID:31159747|PMID:31206626|PMID:31246251|PMID:31296550|PMID:31422574|PMID:31465090|PMID:31511843|PMID:31514334|PMID:31600923|PMID:31642931|PMID:31780696|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31986421|PMID:32068069|PMID:32107087|PMID:32133419|PMID:32147272|PMID:32175104|PMID:32241597|PMID:32260281|PMID:32269045|PMID:32283892|PMID:32318955|PMID:32362280|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32770675|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33193653|PMID:33322525|PMID:33365374|PMID:33471991|PMID:34299313|PMID:34359559|PMID:34537906|PMID:8075649|PMID:8127895|PMID:9268661|PMID:9536098|PMID:9537325|PMID:9744472|PMID:9751616 12424322 CDH1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10072428|PMID:10094558|PMID:10211998|PMID:10319582|PMID:10357799|PMID:10477433|PMID:10896919|PMID:10973239|PMID:11196175|PMID:11241409|PMID:11305955|PMID:11313896|PMID:11332401|PMID:11419427|PMID:11598162|PMID:11665720|PMID:11705864|PMID:11747475|PMID:11857408|PMID:11948460|PMID:11968083|PMID:11968084|PMID:12216071|PMID:12414534|PMID:12532420|PMID:12588804|PMID:12647996|PMID:12800196|PMID:12944922|PMID:14158754|PMID:14500541|PMID:14562278|PMID:14630673|PMID:15138207|PMID:15173255|PMID:15235021|PMID:15313375|PMID:15322508|PMID:15457549|PMID:15735979|PMID:15750927|PMID:15831593|PMID:16061854|PMID:16112667|PMID:16199547|PMID:16501831|PMID:16527687|PMID:16787116|PMID:16801346|PMID:16924464|PMID:16929514|PMID:16997156|PMID:17126523|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17434710|PMID:17510211|PMID:17522512|PMID:17545690|PMID:17576681|PMID:17634464|PMID:17660459|PMID:17668349|PMID:18046629|PMID:18391748|PMID:18427545|PMID:18442100|PMID:18772194|PMID:18788075|PMID:19011631|PMID:19017792|PMID:19139070|PMID:19223545|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19725995|PMID:19965908|PMID:20233471|PMID:20371349|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:21681551|PMID:21696387|PMID:21777349|PMID:21989054|PMID:22006311|PMID:22020549|PMID:22098830|PMID:22152101|PMID:22225527|PMID:22252131|PMID:22470475|PMID:22543498|PMID:22703879|PMID:22722829|PMID:22722839|PMID:22723466|PMID:22752307|PMID:22788692|PMID:22850631|PMID:22911296|PMID:22941188|PMID:23073328|PMID:23197654|PMID:23264079|PMID:23290073|PMID:23431106|PMID:23435907|PMID:23555086|PMID:23575477|PMID:23709761|PMID:23752020|PMID:24033266|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24366306|PMID:24373500|PMID:24389957|PMID:24424122|PMID:2449335|PMID:24493355|PMID:24556621|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24784840|PMID:24817184|PMID:24969172|PMID:25067988|PMID:25123297|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25275298|PMID:25315765|PMID:25318351|PMID:25344691|PMID:25388006|PMID:25525159|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25771876|PMID:25819062|PMID:25856671|PMID:25862857|PMID:25882375|PMID:25927356|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26025002|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26270727|PMID:26296696|PMID:26467025|PMID:26483394|PMID:26486520|PMID:26517685|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26674224|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27064202|PMID:27121310|PMID:27146957|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27276934|PMID:27284491|PMID:27392081|PMID:27443514|PMID:27477802|PMID:27498913|PMID:27499925|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27682646|PMID:27720647|PMID:27752808|PMID:27760322|PMID:27824116|PMID:27878467|PMID:27880784|PMID:27904775|PMID:27925203|PMID:27930734|PMID:27978560|PMID:27995193|PMID:28125075|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195815|PMID:28202063|PMID:28301459|PMID:28301460|PMID:28338653|PMID:28352678|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28522829|PMID:28580595|PMID:28608266|PMID:28640387|PMID:28649662|PMID:28688938|PMID:28699883|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28975465|PMID:28993866|PMID:29016666|PMID:29025585|PMID:29050249|PMID:29131691|PMID:29156750|PMID:29212164|PMID:29263802|PMID:29295527|PMID:29338689|PMID:29348693|PMID:29368341|PMID:29371908|PMID:29416795|PMID:29431110|PMID:29454568|PMID:29470806|PMID:29522266|PMID:29577179|PMID:29589180|PMID:29641532|PMID:29752822|PMID:29769627|PMID:29785153|PMID:29798843|PMID:29805042|PMID:29926297|PMID:29928469|PMID:30014492|PMID:30089731|PMID:30093976|PMID:30239046|PMID:30264118|PMID:30287823|PMID:30306255|PMID:30306390|PMID:30311375|PMID:30333958|PMID:30374176|PMID:30426508 12424322 CDH1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30542785|PMID:30563991|PMID:30661051|PMID:30716324|PMID:30745422|PMID:30895400|PMID:30935944|PMID:31077828|PMID:31159747|PMID:31206626|PMID:31246251|PMID:31296550|PMID:31422574|PMID:31465090|PMID:31511843|PMID:31514334|PMID:31600923|PMID:31642931|PMID:31780696|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31986421|PMID:32068069|PMID:32107087|PMID:32133419|PMID:32147272|PMID:32175104|PMID:32241597|PMID:32260281|PMID:32269045|PMID:32283892|PMID:32295625|PMID:32318955|PMID:32362280|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32770675|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33193653|PMID:33322525|PMID:33365374|PMID:33471991|PMID:34299313|PMID:34359559|PMID:34537906|PMID:34690920|PMID:35172483|PMID:8075649|PMID:8127895|PMID:9268661|PMID:9536098|PMID:9537325|PMID:9744472|PMID:9751616 12424322 CDH1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30542785|PMID:30563991|PMID:30661051|PMID:30716324|PMID:30745422|PMID:30895400|PMID:30935944|PMID:31077828|PMID:31159747|PMID:31206626|PMID:31246251|PMID:31296550|PMID:31422574|PMID:31465090|PMID:31511843|PMID:31514334|PMID:31600923|PMID:31642931|PMID:31780696|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31986421|PMID:32068069|PMID:32107087|PMID:32133419|PMID:32147272|PMID:32175104|PMID:32241597|PMID:32260281|PMID:32269045|PMID:32283892|PMID:32295625|PMID:32318955|PMID:32362280|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32770675|PMID:32885271|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33193653|PMID:33322525|PMID:33365374|PMID:33471991|PMID:33809393|PMID:34299313|PMID:34359559|PMID:34537906|PMID:34690920|PMID:35172483|PMID:8075649|PMID:8127895|PMID:9268661|PMID:9536098|PMID:9537325|PMID:9744472|PMID:9751616 12424322 CDH1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10072428|PMID:10094558|PMID:10211998|PMID:10319582|PMID:10357799|PMID:10433926|PMID:10477433|PMID:10896919|PMID:10973239|PMID:11104024|PMID:11196175|PMID:11241409|PMID:11305955|PMID:11313896|PMID:11332401|PMID:11419427|PMID:11434599|PMID:11598162|PMID:11665720|PMID:11705864|PMID:11747475|PMID:11857408|PMID:11948460|PMID:11968083|PMID:11968084|PMID:12096341|PMID:12216071|PMID:12414534|PMID:12532420|PMID:12588804|PMID:12647996|PMID:12800196|PMID:12944922|PMID:14033926|PMID:14158754|PMID:14500541|PMID:14562278|PMID:14630673|PMID:15138207|PMID:15173255|PMID:15235021|PMID:15288293|PMID:15313375|PMID:15322508|PMID:15457549|PMID:15735979|PMID:15750927|PMID:15780560|PMID:15831593|PMID:16061854|PMID:16112667|PMID:16199547|PMID:16501831|PMID:16527687|PMID:16571431|PMID:16787116|PMID:16801346|PMID:16924464|PMID:16929514|PMID:16997156|PMID:17126523|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17434710|PMID:17510211|PMID:17522512|PMID:17545690|PMID:17576681|PMID:17634464|PMID:17660459|PMID:17668349|PMID:18046629|PMID:18391748|PMID:18427545|PMID:18442100|PMID:18726070|PMID:18772194|PMID:18788075|PMID:19011631|PMID:19017792|PMID:19139070|PMID:19168852|PMID:19223545|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19408054|PMID:19725995|PMID:19965908|PMID:20066110|PMID:20233471|PMID:20371349|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21331337|PMID:21424370|PMID:21520333|PMID:21681551|PMID:21696387|PMID:21777349|PMID:21853084|PMID:21989054|PMID:22006311|PMID:22020549|PMID:22098830|PMID:22152101|PMID:22225527|PMID:22252131|PMID:22470475|PMID:22543498|PMID:22703879|PMID:22722829|PMID:22722839|PMID:22723466|PMID:22752307|PMID:22850631|PMID:22875147|PMID:22911296|PMID:22941188|PMID:23073328|PMID:23124477|PMID:2317870|PMID:23197654|PMID:23264079|PMID:23290073|PMID:23431106|PMID:23435907|PMID:23555086|PMID:23575477|PMID:23709761|PMID:23752020|PMID:24033266|PMID:24055113|PMID:24113346|PMID:24204729|PMID:24326041|PMID:24333020|PMID:24366306|PMID:24373500|PMID:24389957|PMID:24424122|PMID:2449335|PMID:24493355|PMID:24556621|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24784840|PMID:24817184|PMID:24969172|PMID:25067988|PMID:25123297|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25275298|PMID:25315765|PMID:25318351|PMID:25344691|PMID:25388006|PMID:25525159|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25771876|PMID:25819062|PMID:25856671|PMID:25862857|PMID:25882375|PMID:25927356|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26025002|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26270727|PMID:26296696|PMID:26437033|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26486520|PMID:26517685|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26674224|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27064202|PMID:27121310|PMID:27146957|PMID:27151223|PMID:27153395|PMID:27203386|PMID:27227907|PMID:27276934|PMID:27284491|PMID:27392081|PMID:27443514|PMID:27477802|PMID:27498913|PMID:27499925|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27682646|PMID:27720647|PMID:27730413|PMID:27752808|PMID:27760322|PMID:27824116|PMID:27878467|PMID:27880784|PMID:27904775|PMID:27925203|PMID:27930734|PMID:27978560|PMID:27995193|PMID:28061482|PMID:28125075|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195815|PMID:28202063|PMID:28301459|PMID:28301460|PMID:28338653|PMID:28352678|PMID:28460635|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28522829|PMID:28577310|PMID:28580595|PMID:28590052|PMID:28608266|PMID:28640387|PMID:28649662|PMID:28688938|PMID:28699883|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28975465|PMID:28993866|PMID:29016666|PMID:29025585|PMID:29050249|PMID:29131691|PMID:29156750|PMID:29212164|PMID:29263802|PMID:29295527|PMID:29307626|PMID:29338689|PMID:29348693|PMID:29368341 12424322 CDH1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29371908|PMID:29416795|PMID:29431110|PMID:29454568|PMID:29470806|PMID:29522266|PMID:29577179|PMID:29589180|PMID:29641532|PMID:29752822|PMID:29769627|PMID:29785153|PMID:29798843|PMID:29805042|PMID:29926297|PMID:29928469|PMID:30014492|PMID:30089731|PMID:30093976|PMID:30239046|PMID:30256826|PMID:30264118|PMID:30287823|PMID:30306255|PMID:30306390|PMID:30311375|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30466290|PMID:30542785|PMID:30563991|PMID:30613976|PMID:30661051|PMID:30716324|PMID:30745422|PMID:30895400|PMID:30935944|PMID:30982232|PMID:31077828|PMID:31159747|PMID:31206626|PMID:31246251|PMID:31296550|PMID:31422574|PMID:31465090|PMID:31511843|PMID:31514334|PMID:31589614|PMID:31600923|PMID:31638429|PMID:31642931|PMID:31742824|PMID:31780696|PMID:31815095|PMID:31841163|PMID:31843900|PMID:31871109|PMID:31942411|PMID:31986421|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32133419|PMID:32147272|PMID:32175104|PMID:32241597|PMID:32260281|PMID:32269045|PMID:32283892|PMID:32295625|PMID:32318955|PMID:32362280|PMID:32426482|PMID:32427313|PMID:32489267|PMID:32521533|PMID:32529019|PMID:32566746|PMID:32658311|PMID:32701958|PMID:32720237|PMID:32770675|PMID:32842532|PMID:32885271|PMID:32886433|PMID:32906206|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33193653|PMID:33309985|PMID:33322525|PMID:33332384|PMID:33365374|PMID:33471991|PMID:33619332|PMID:33809393|PMID:33929593|PMID:33980423|PMID:34299313|PMID:34359559|PMID:34426522|PMID:34503169|PMID:34537906|PMID:34690920|PMID:35089076|PMID:35172483|PMID:35327954|PMID:35418818|PMID:36436516|PMID:36988593|PMID:8075649|PMID:8127895|PMID:8557030|PMID:9268661|PMID:9536098|PMID:9537325|PMID:9744472|PMID:9751616 12424322 CDH1 cadherin 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 12424322 CDH1 cadherin 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8075649 12424322 CDH1 cadherin 1 gene DOID:9007809 Neoplasm Seeding ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27224422 12424322 CDH1 cadherin 1 gene DOID:9008114 Helicobacter Infections ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19184424 12424322 CDH1 cadherin 1 gene DOID:9008138 Ductal Carcinoma ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 12424322 CDH1 cadherin 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10072428|PMID:19011631 12424322 CDH1 cadherin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast tumor PMID:11305955|PMID:22703879|PMID:24728327|PMID:25741868|PMID:28492532 12424322 CDH1 cadherin 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:11305955|PMID:11332401|PMID:11598162|PMID:11747475|PMID:11948460|PMID:11968083|PMID:11968084|PMID:12588804|PMID:12800196|PMID:14500541|PMID:15173255|PMID:15235021|PMID:15750927|PMID:15831593|PMID:16061854|PMID:16199547|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17510211|PMID:17522512|PMID:17545690|PMID:17576681|PMID:18046629|PMID:18427545|PMID:18442100|PMID:18726070|PMID:18788075|PMID:19139070|PMID:19268661|PMID:19269290|PMID:19725995|PMID:19965908|PMID:20066110|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:21681551|PMID:22006311|PMID:22225527|PMID:22470475|PMID:22703879|PMID:22723466|PMID:22850631|PMID:22911296|PMID:2317870|PMID:23197654|PMID:23264079|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:25067988|PMID:25123297|PMID:25186627|PMID:25231023|PMID:25275298|PMID:25388006|PMID:25525159|PMID:25593300|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26022348|PMID:26025002|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26681312|PMID:26759166|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27064202|PMID:27146957|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27682646|PMID:27930734|PMID:27978560|PMID:27995193|PMID:28135145|PMID:28166811|PMID:28202063|PMID:28301460|PMID:28492532|PMID:28590052|PMID:28608266|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28993866|PMID:29025585|PMID:29295527|PMID:29348693|PMID:29431110|PMID:29522266|PMID:29577179|PMID:29589180|PMID:29641532|PMID:29752822|PMID:30089731|PMID:30239046|PMID:30287823|PMID:30311375|PMID:30374176|PMID:30426508|PMID:30661051|PMID:30745422|PMID:31159747|PMID:31422574|PMID:31514334|PMID:31589614|PMID:31600923|PMID:31742824|PMID:31843900|PMID:31871109|PMID:32068069|PMID:32269045|PMID:32283892|PMID:32295625|PMID:32362280|PMID:32566746|PMID:32658311|PMID:32842532|PMID:32885271|PMID:33193653|PMID:33309985|PMID:33471991|PMID:33619332|PMID:33980423|PMID:35089076|PMID:36988593|PMID:8075649|PMID:9268661|PMID:9536098|PMID:9537325 12424322 CDH1 cadherin 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:15863205|REF_RGD_ID:11252161 12424322 CDH1 cadherin 1 gene DOID:9256 colorectal cancer ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 12424322 CDH1 cadherin 1 gene DOID:9296 cleft lip ISO RGD:737413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cleft lip with or without cleft palate PMID:25741868|PMID:26123647|PMID:28492532|PMID:29348693|PMID:29805042 12424322 CDH1 cadherin 1 gene DOID:9296 cleft lip susceptibility ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:splice-site mutation: :531+2T>A (human) PMID:15831593|REF_RGD_ID:1599548 12424322 CDH1 cadherin 1 gene DOID:9351 diabetes mellitus ISO RGD:737413 D RGD:9068941 20220527 RGD associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:decreased expression:lung (human) PMID:27411924|REF_RGD_ID:152975631 12424342 SLC35B2 solute carrier family 35 member B2 gene DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity ISO RGD:1349281 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations PMID:35325049 12424342 SLC35B2 solute carrier family 35 member B2 gene DOID:630 genetic disease ISO RGD:1349281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424342 SLC35B2 solute carrier family 35 member B2 gene DOID:9008469 Hypomyelinating Leukodystrophy 26 ISO RGD:1349281 D RGD:7240710 20230505 OMIM 12424342 SLC35B2 solute carrier family 35 member B2 gene DOID:9008469 Hypomyelinating Leukodystrophy 26 ISO RGD:1349281 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia PMID:35325049 12424347 CYP39A1 cytochrome P450 family 39 subfamily A member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1316685 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12424347 CYP39A1 cytochrome P450 family 39 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1316685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424347 CYP39A1 cytochrome P450 family 39 subfamily A member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1316685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12424381 GCFC2 GC-rich sequence DNA-binding factor 2 gene DOID:630 genetic disease ISO RGD:1312440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424425 GPRC5C G protein-coupled receptor class C group 5 member C gene DOID:630 genetic disease ISO RGD:1322855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424460 CST7 cystatin F gene DOID:0080600 COVID-19 ISO RGD:1342542 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12424460 CST7 cystatin F gene DOID:630 genetic disease ISO RGD:1342542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424460 CST7 cystatin F gene DOID:9000217 Stomach Neoplasms ISO RGD:1342542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12424471 LRRFIP2 LRR binding FLII interacting protein 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:1314733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lynch syndrome II PMID:21785361 12424471 LRRFIP2 LRR binding FLII interacting protein 2 gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:1314733 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 PMID:21785361|PMID:25741868 12424471 LRRFIP2 LRR binding FLII interacting protein 2 gene DOID:3883 Lynch syndrome ISO RGD:1314733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10422993|PMID:28492532 12424471 LRRFIP2 LRR binding FLII interacting protein 2 gene DOID:630 genetic disease ISO RGD:1314733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424471 LRRFIP2 LRR binding FLII interacting protein 2 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1314733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 12424527 TRMT6 tRNA methyltransferase 6 non-catalytic subunit gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1604623 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12424527 TRMT6 tRNA methyltransferase 6 non-catalytic subunit gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1604623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12424527 TRMT6 tRNA methyltransferase 6 non-catalytic subunit gene DOID:630 genetic disease ISO RGD:1604623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424549 FER1L4 fer-1 like family member 4 gene DOID:0080600 COVID-19 ISO RGD:1350956 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12424596 OCA2 OCA2 melanosomal transmembrane protein gene DOID:0050632 oculocutaneous albinism ISO RGD:1352949 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:19060277|PMID:23824587|PMID:25741868|PMID:27734839|PMID:28224992|PMID:28492532|PMID:28667292|PMID:29345414 12424596 OCA2 OCA2 melanosomal transmembrane protein gene DOID:0060041 autism spectrum disorder ISO RGD:1352949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 12424596 OCA2 OCA2 melanosomal transmembrane protein gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1352949 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 12424596 OCA2 OCA2 melanosomal transmembrane protein gene DOID:0070096 oculocutaneous albinism type II IAGP D RGD:12801476 20230118 OMIA Coat colour, oculocutaneous albinism, OCA2-related PMID:28973042|PMID:34751460|PMID:35510419 12424596 OCA2 OCA2 melanosomal transmembrane protein gene DOID:0070096 oculocutaneous albinism type II ISO RGD:1352949 D RGD:7240710 20180130 OMIM 12424596 OCA2 OCA2 melanosomal transmembrane protein gene DOID:0070096 oculocutaneous albinism type II ISO RGD:1352949 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism PMID:10094567|PMID:10649493|PMID:10671067|PMID:10905897|PMID:10987646|PMID:11179026|PMID:11464238|PMID:12163334|PMID:12469324|PMID:12687678|PMID:12713581|PMID:12876664|PMID:15173252|PMID:15712365|PMID:15889046|PMID:15942220|PMID:16199547|PMID:17160937|PMID:17236130|PMID:17385796|PMID:17568986|PMID:17576681|PMID:1773534|PMID:17767372|PMID:17960121|PMID:18252222|PMID:18326704|PMID:18463683|PMID:18683130|PMID:18821858|PMID:19060277|PMID:19865097|PMID:20019752|PMID:20301410|PMID:20426782|PMID:20806075|PMID:20861488|PMID:21085994|PMID:21458243|PMID:21541274|PMID:22734612|PMID:23010199|PMID:23103111|PMID:23504663|PMID:23744323|PMID:23824587|PMID:24033266|PMID:24118800|PMID:24361966|PMID:24518832|PMID:24845642|PMID:25060099|PMID:25412400|PMID:25455140|PMID:25513726|PMID:25741868|PMID:25809079|PMID:25919014|PMID:26165494|PMID:26474496|PMID:26818737|PMID:27231233|PMID:27468418|PMID:27734839|PMID:27887888|PMID:28041643|PMID:28224992|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28667292|PMID:28726809|PMID:28976636|PMID:29036293|PMID:29095814|PMID:29345414|PMID:29437493|PMID:30025130|PMID:30414346|PMID:30835348|PMID:31077556|PMID:31141302|PMID:31196117|PMID:31229681|PMID:31719542|PMID:31813138|PMID:32741191|PMID:32783370|PMID:32830442|PMID:33124154|PMID:33974259|PMID:34707637|PMID:35393538|PMID:7762554|PMID:7874125|PMID:7920637|PMID:8302318|PMID:8980282|PMID:9259203|PMID:9536098 12424596 OCA2 OCA2 melanosomal transmembrane protein gene DOID:11983 Prader-Willi syndrome ISO RGD:1352949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 12424596 OCA2 OCA2 melanosomal transmembrane protein gene DOID:12849 autistic disorder ISO RGD:1352949 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 12424596 OCA2 OCA2 melanosomal transmembrane protein gene DOID:13250 diarrhea ISO RGD:1352949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diarrhea PMID:23010199|PMID:25741868|PMID:28492532|PMID:28667292 12424596 OCA2 OCA2 melanosomal transmembrane protein gene DOID:1749 squamous cell carcinoma susceptibility ISO RGD:1352949 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A481T (rs74653330) (human) PMID:24617981|REF_RGD_ID:9491831 12424596 OCA2 OCA2 melanosomal transmembrane protein gene DOID:1932 Angelman syndrome ISO RGD:1352949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:26633545 12424596 OCA2 OCA2 melanosomal transmembrane protein gene DOID:2513 basal cell carcinoma susceptibility ISO RGD:1352949 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R419Q (rs1800407) (human) PMID:19384953|REF_RGD_ID:9491841 12424596 OCA2 OCA2 melanosomal transmembrane protein gene DOID:2513 basal cell carcinoma susceptibility ISO RGD:1352949 D RGD:9068941 20200609 RGD DNA:snps:intron:IVS1+132A>G (rs7495174), IVS1+8550A>G (rs11855019), IVS1+15605G>A (rs7174027) (human) PMID:21270109|REF_RGD_ID:9491840 12424596 OCA2 OCA2 melanosomal transmembrane protein gene DOID:5419 schizophrenia ISO RGD:1352949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12424596 OCA2 OCA2 melanosomal transmembrane protein gene DOID:630 genetic disease ISO RGD:1352949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10094567|PMID:10649493|PMID:10671067|PMID:10905897|PMID:10987646|PMID:11464238|PMID:15712365|PMID:17385796|PMID:1773534|PMID:17960121|PMID:18326704|PMID:18463683|PMID:18683130|PMID:19865097|PMID:20019752|PMID:20301410|PMID:20861488|PMID:21541274|PMID:23010199|PMID:23504663|PMID:23744323|PMID:24033266|PMID:24518832|PMID:25513726|PMID:25741868|PMID:26165494|PMID:26474496|PMID:27231233|PMID:27468418|PMID:27734839|PMID:28041643|PMID:28451379|PMID:28492532|PMID:28667292|PMID:28976636|PMID:29345414|PMID:29437493|PMID:31077556|PMID:31196117|PMID:32741191|PMID:32830442|PMID:8302318|PMID:8980282 12424596 OCA2 OCA2 melanosomal transmembrane protein gene DOID:8866 actinic keratosis susceptibility ISO RGD:1352949 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A481T (rs74653330) (human) PMID:24617981|REF_RGD_ID:9491831 12424596 OCA2 OCA2 melanosomal transmembrane protein gene DOID:8923 skin melanoma susceptibility ISO RGD:1352949 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.H615R (rs1800414) (human) PMID:24617981|REF_RGD_ID:9491831 12424596 OCA2 OCA2 melanosomal transmembrane protein gene DOID:8923 skin melanoma susceptibility ISO RGD:1352949 D RGD:9068941 20200609 RGD DNA:snp:cds:p.R419Q (rs1800407) (human) PMID:19710684|REF_RGD_ID:9491818 12424596 OCA2 OCA2 melanosomal transmembrane protein gene DOID:8923 skin melanoma susceptibility ISO RGD:1352949 D RGD:9068941 20200609 RGD DNA:snps:exon, intron:multiple (human) PMID:15889046|REF_RGD_ID:9491829 12424596 OCA2 OCA2 melanosomal transmembrane protein gene DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 ISO RGD:1352949 D RGD:7240710 20180130 OMIM 12424596 OCA2 OCA2 melanosomal transmembrane protein gene DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 ISO RGD:1352949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 1 PMID:10987646|PMID:12163334|PMID:12876664|PMID:15889046|PMID:18252222|PMID:23504663|PMID:25741868|PMID:28492532|PMID:30414346|PMID:7874125 12424596 OCA2 OCA2 melanosomal transmembrane protein gene DOID:9001386 Albinism ISO RGD:1352949 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Albinism PMID:19060277|PMID:23824587|PMID:25741868|PMID:27734839|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28667292|PMID:28976636|PMID:29345414|PMID:32741191 12424596 OCA2 OCA2 melanosomal transmembrane protein gene DOID:9003119 Nonsyndromic Oculocutaneous Albinism ISO RGD:1352949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism PMID:10649493|PMID:12876664|PMID:18463683|PMID:20426782|PMID:20861488|PMID:22734612|PMID:23504663|PMID:23744323|PMID:24033266|PMID:24118800|PMID:24361966|PMID:24518832|PMID:24845642|PMID:25741868|PMID:26165494|PMID:27734839|PMID:28266639|PMID:28492532|PMID:31077556|PMID:31229681|PMID:7874125|PMID:8302318 12424596 OCA2 OCA2 melanosomal transmembrane protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12424596 OCA2 OCA2 melanosomal transmembrane protein gene DOID:9004823 Brown Oculocutaneous Albinism ISO RGD:1352949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown oculocutaneous albinism PMID:11179026|PMID:17767372|PMID:7920637 12424596 OCA2 OCA2 melanosomal transmembrane protein gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:1352949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:11198279|PMID:26068938|PMID:26950270|PMID:28053010|PMID:28492532 12424621 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:0060041 autism spectrum disorder ISO RGD:1313295 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12424621 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1313295 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:16116617|PMID:17576681|PMID:18347291|PMID:19131948|PMID:19890349|PMID:23621129|PMID:24033266|PMID:25741868|PMID:26762237|PMID:27025581|PMID:28492532|PMID:29687370|PMID:31168818|PMID:31642606|PMID:31953843|PMID:33255364|PMID:33435499|PMID:33726816|PMID:34008892|PMID:34379964|PMID:9536098 12424621 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:0060656 autosomal recessive congenital ichthyosis 1 ISO RGD:1313295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21739938 12424621 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:0060710 autosomal recessive congenital ichthyosis 2 ISO RGD:1313295 D RGD:7240710 20180130 OMIM 12424621 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:0060710 autosomal recessive congenital ichthyosis 2 ISO RGD:1313295 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 PMID:11773004|PMID:16116617|PMID:16199547|PMID:17139268|PMID:17576681|PMID:18347291|PMID:18414213|PMID:19131948|PMID:19890349|PMID:20222929|PMID:22622417|PMID:23083690|PMID:23621129|PMID:24033266|PMID:25524567|PMID:25741868|PMID:25998749|PMID:26762237|PMID:26863999|PMID:27025581|PMID:28492532|PMID:29687370|PMID:31046801|PMID:31168818|PMID:31642606|PMID:31953843|PMID:33435499|PMID:33726816|PMID:34008892|PMID:34379964|PMID:35052464|PMID:9536098 12424621 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1313295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12424621 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1313295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 12424621 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:12177 common variable immunodeficiency ISO RGD:1313295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12424621 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1313295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12424621 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:1697 ichthyosis ISO RGD:1313295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ichthyosis PMID:16116617|PMID:19131948|PMID:19890349|PMID:24033266|PMID:25741868|PMID:27025581|PMID:28492532|PMID:31168818|PMID:34008892 12424621 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:2729 dyskeratosis congenita ISO RGD:1313295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 12424621 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:299 adenocarcinoma ISO RGD:1313295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 12424621 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1313295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 12424621 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:3910 lung adenocarcinoma ISO RGD:1313295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 12424621 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:4450 renal cell carcinoma ISO RGD:1313295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 12424621 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:4905 pancreatic carcinoma ISO RGD:1313295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 12424621 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:630 genetic disease ISO RGD:1313295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424621 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 12424621 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:9002762 Ovarian Neoplasms ISO RGD:1313295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 12424621 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:9002928 Colonic Neoplasms ISO RGD:1313295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 12424621 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:9003124 Labrune Syndrome ISO RGD:1313295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts 12424621 ALOX12B arachidonate 12-lipoxygenase, 12R type gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1313295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 12424640 DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:0080600 COVID-19 ISO RGD:1606591 D RGD:9068941 20211008 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12424640 DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:1059 intellectual disability ISO RGD:1606591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12424640 DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:12556 acute kidney tubular necrosis ISO RGD:2078 D RGD:9068941 20211008 RGD protein:decreased expression:kidney (rat) PMID:21152904|REF_RGD_ID:5134352 12424640 DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:630 genetic disease ISO RGD:1606591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424640 DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:8398 osteoarthritis ISO RGD:1606591 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12424640 DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2078 D RGD:9068941 20211008 RGD protein:increased expression:liver (rat) PMID:16538043|REF_RGD_ID:2301096 12424650 HIP1 huntingtin interacting protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12424650 HIP1 huntingtin interacting protein 1 gene DOID:630 genetic disease ISO RGD:736003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424650 HIP1 huntingtin interacting protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736003 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12424650 HIP1 huntingtin interacting protein 1 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:736003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12424689 DLK1 delta like non-canonical Notch ligand 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:732542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18575777 12424689 DLK1 delta like non-canonical Notch ligand 1 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:732542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 12424689 DLK1 delta like non-canonical Notch ligand 1 gene DOID:13608 biliary atresia ISO RGD:732542 D RGD:9068941 20200609 RGD PMID:14743499|REF_RGD_ID:1625622 12424689 DLK1 delta like non-canonical Notch ligand 1 gene DOID:3070 high grade glioma ISO RGD:732542 D RGD:9068941 20200609 RGD PMID:16288219|REF_RGD_ID:1625600 12424689 DLK1 delta like non-canonical Notch ligand 1 gene DOID:630 genetic disease ISO RGD:732542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424689 DLK1 delta like non-canonical Notch ligand 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732543 D RGD:9068941 20210423 RGD mRNA:increased expression:liver (mouse) PMID:26569409|REF_RGD_ID:11344640 12424689 DLK1 delta like non-canonical Notch ligand 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:732542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27776119 12424689 DLK1 delta like non-canonical Notch ligand 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:732543 D RGD:9068941 20211119 RGD PMID:24676147|REF_RGD_ID:150520045 12424689 DLK1 delta like non-canonical Notch ligand 1 gene DOID:9007070 Silver-Russell Syndrome 1 ISO RGD:732542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 1 12424703 GRPR gastrin releasing peptide receptor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12424703 GRPR gastrin releasing peptide receptor gene DOID:12849 autistic disorder ISO RGD:731959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12424703 GRPR gastrin releasing peptide receptor gene DOID:630 genetic disease ISO RGD:731959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424703 GRPR gastrin releasing peptide receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:731959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17204703 12424703 GRPR gastrin releasing peptide receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12424703 GRPR gastrin releasing peptide receptor gene DOID:9008023 Memory Disorders ISO RGD:731959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17097693 12424714 PRXL2C peroxiredoxin like 2C gene DOID:1059 intellectual disability ISO RGD:1313944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12424714 PRXL2C peroxiredoxin like 2C gene DOID:630 genetic disease ISO RGD:1313944 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424724 YWHAQ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta gene DOID:630 genetic disease ISO RGD:734393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424724 YWHAQ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta gene DOID:8398 osteoarthritis ISO RGD:734393 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12424734 CDNF cerebral dopamine neurotrophic factor gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1316888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12424734 CDNF cerebral dopamine neurotrophic factor gene DOID:630 genetic disease ISO RGD:1316888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424759 MAZ MYC associated zinc finger protein gene DOID:0060019 coronin-1A deficiency ISO RGD:1315360 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12424759 MAZ MYC associated zinc finger protein gene DOID:0060041 autism spectrum disorder ISO RGD:1315360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 12424759 MAZ MYC associated zinc finger protein gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1315360 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 12424759 MAZ MYC associated zinc finger protein gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1315360 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 12424759 MAZ MYC associated zinc finger protein gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1315360 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12424759 MAZ MYC associated zinc finger protein gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1315360 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 12424759 MAZ MYC associated zinc finger protein gene DOID:12849 autistic disorder ISO RGD:1315360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12424759 MAZ MYC associated zinc finger protein gene DOID:1882 atrial heart septal defect ISO RGD:1315360 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 12424759 MAZ MYC associated zinc finger protein gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1315360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12424759 MAZ MYC associated zinc finger protein gene DOID:5419 schizophrenia ISO RGD:1315360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12424759 MAZ MYC associated zinc finger protein gene DOID:630 genetic disease ISO RGD:1315360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424759 MAZ MYC associated zinc finger protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12424759 MAZ MYC associated zinc finger protein gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1315360 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 12424759 MAZ MYC associated zinc finger protein gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1315360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 12424766 SPEM2 SPEM family member 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1604207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12424766 SPEM2 SPEM family member 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1604207 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12424766 SPEM2 SPEM family member 2 gene DOID:1059 intellectual disability ISO RGD:1604207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12424766 SPEM2 SPEM family member 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1604207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12424766 SPEM2 SPEM family member 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1604207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12424766 SPEM2 SPEM family member 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1604207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12424766 SPEM2 SPEM family member 2 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1604207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12424781 HERC6 HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 gene DOID:630 genetic disease ISO RGD:1348683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424781 HERC6 HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1348683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12424781 HERC6 HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 gene DOID:9001488 Human Influenza ISO RGD:1348683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12424810 AFG2B AFG2 AAA ATPase homolog B gene DOID:0050712 AGAT deficiency ISO RGD:1317463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 12424810 AFG2B AFG2 AAA ATPase homolog B gene DOID:2717 Bloom syndrome ISO RGD:1317463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12424810 AFG2B AFG2 AAA ATPase homolog B gene DOID:630 genetic disease ISO RGD:1317463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424810 AFG2B AFG2 AAA ATPase homolog B gene DOID:9001315 NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY ISO RGD:1317463 D RGD:7240710 20220216 OMIM 12424810 AFG2B AFG2 AAA ATPase homolog B gene DOID:9001315 NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY ISO RGD:1317463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hearing loss and spasticity | ClinVar Annotator: match by term: SPATA5L1-associated disorder PMID:25741868|PMID:28492532|PMID:34626583 12424810 AFG2B AFG2 AAA ATPase homolog B gene DOID:9005720 Autosomal Recessive Nonsyndromic Deafness 119 ISO RGD:1317463 D RGD:7240710 20211208 OMIM 12424810 AFG2B AFG2 AAA ATPase homolog B gene DOID:9005720 Autosomal Recessive Nonsyndromic Deafness 119 ISO RGD:1317463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 119 PMID:25741868|PMID:28492532|PMID:34626583 12424810 AFG2B AFG2 AAA ATPase homolog B gene DOID:9256 colorectal cancer ISO RGD:1317463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12424828 TMEM232 transmembrane protein 232 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:3029048 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12424828 TMEM232 transmembrane protein 232 gene DOID:630 genetic disease ISO RGD:3029048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424828 TMEM232 transmembrane protein 232 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:3029048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12424828 TMEM232 transmembrane protein 232 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:3029048 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12424884 TMCO2 transmembrane and coiled-coil domains 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12424884 TMCO2 transmembrane and coiled-coil domains 2 gene DOID:630 genetic disease ISO RGD:1603584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424891 LOC100687968 C-type lectin domain family 2 member F-like gene DOID:630 genetic disease ISO RGD:7380820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424910 SLC9B2 solute carrier family 9 member B2 gene DOID:3633 beta-mannosidosis ISO RGD:1604997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 12424910 SLC9B2 solute carrier family 9 member B2 gene DOID:630 genetic disease ISO RGD:1604997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424937 RPA1 replication protein A1 gene DOID:630 genetic disease ISO RGD:1316541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12424937 RPA1 replication protein A1 gene DOID:9001341 Chloracne ISO RGD:1316541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 12424937 RPA1 replication protein A1 gene DOID:9007119 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 6 ISO RGD:1316541 D RGD:7240710 20220316 OMIM 12424937 RPA1 replication protein A1 gene DOID:9007119 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 6 ISO RGD:1316541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 | ClinVar Annotator: match by term: RPA1-related short telomere syndrome PMID:25741868|PMID:34767620 12424958 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1604612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28654958|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31589614|PMID:33613441 12424958 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12424958 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12424958 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1604612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25741868|PMID:25803036|PMID:28492532|PMID:28654958|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31589614|PMID:33613441 12424958 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:0112085 nuclear type mitochondrial complex I deficiency 19 ISO RGD:1604612 D RGD:7240710 20190315 OMIM 12424958 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:0112085 nuclear type mitochondrial complex I deficiency 19 ISO RGD:1604612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25678554|PMID:25741868|PMID:28097321|PMID:28492532|PMID:28654958|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31434271|PMID:31589614|PMID:32964447|PMID:33613441|PMID:35628876 12424958 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:1826 epilepsy ISO RGD:1604612 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12424958 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:3652 Leigh disease ISO RGD:1604612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25678554|PMID:25741868|PMID:25803036|PMID:28492532|PMID:28654958|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31589614|PMID:33613441 12424958 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12424958 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:630 genetic disease ISO RGD:1604612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25678554|PMID:25741868|PMID:28097321|PMID:28492532|PMID:28654958|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31589614|PMID:32964447|PMID:33613441 12424958 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:1604612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20818383 12424958 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1604612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20858599 12424958 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1604612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25678554|PMID:25741868|PMID:28492532|PMID:28654958|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31589614|PMID:33613441 12424958 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12424958 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:9007385 Mitochondrial Encephalopathy ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalopathy PMID:25741868 12424958 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:9007661 Dwarfism ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12424958 FOXRED1 FAD dependent oxidoreductase domain containing 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:25741868|PMID:28492532 12425049 PDE1A phosphodiesterase 1A gene DOID:630 genetic disease ISO RGD:68458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425049 PDE1A phosphodiesterase 1A gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:68329 D RGD:9068941 20200609 RGD PMID:12834273|REF_RGD_ID:2312523 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:10598665|PMID:12460918|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18794081|PMID:18948947|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21263000|PMID:21305640|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:2278970|PMID:23414587|PMID:23431193|PMID:23515407|PMID:2407301|PMID:24284627|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:2989702|PMID:3122217|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:0050523 adult T-cell leukemia/lymphoma disease_progression ISO RGD:11018 D RGD:9068941 20200609 RGD PMID:21586752|REF_RGD_ID:11535055 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:0050902 medulloblastoma ISO RGD:735648 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:16291983|PMID:17332249|PMID:17517660|PMID:18375819|PMID:18390968|PMID:18633438|PMID:19657110|PMID:19775298|PMID:20130576|PMID:20179705|PMID:21079152|PMID:22962325|PMID:23414587|PMID:23431193|PMID:2407301|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:27993330|PMID:2989702|PMID:3102434|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:0050908 myelodysplastic syndrome ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:10598665|PMID:12460918|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21263000|PMID:21305640|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:2278970|PMID:22962325|PMID:23134356|PMID:23334668|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23614898|PMID:24033266|PMID:2407301|PMID:24284627|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:735648 D RGD:9068941 20200609 RGD PMID:23708912|REF_RGD_ID:11535060 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:0060058 lymphoma ISO RGD:735648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9205081 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:735648 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:16291983|PMID:17332249|PMID:17517660|PMID:18375819|PMID:18390968|PMID:18633438|PMID:19657110|PMID:19775298|PMID:20130576|PMID:20179705|PMID:21079152|PMID:22962325|PMID:23414587|PMID:23431193|PMID:2407301|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:27993330|PMID:2989702|PMID:3102434|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:0060318 acute promyelocytic leukemia ISO RGD:735648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:0060578 Noonan syndrome 1 ISO RGD:735648 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:17671181|PMID:19966803|PMID:21263000|PMID:22220252|PMID:22499344|PMID:22855653|PMID:23325582|PMID:23708912|PMID:24033266|PMID:24806883|PMID:25741868|PMID:26467218|PMID:26980726|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28492532|PMID:28594414|PMID:29692343|PMID:29752777|PMID:31219622 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:0060584 Noonan syndrome 6 ISO RGD:735648 D RGD:7240710 20180130 OMIM 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:0060584 Noonan syndrome 6 ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Noonan syndrome 6 PMID:12460918|PMID:16273091|PMID:16291983|PMID:16434492|PMID:17332249|PMID:17517660|PMID:17671181|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21263000|PMID:21305640|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22220252|PMID:22407852|PMID:22499344|PMID:22761467|PMID:2278970|PMID:22855653|PMID:22962325|PMID:23134356|PMID:23325582|PMID:23334668|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:23708912|PMID:24033266|PMID:2407301|PMID:24284627|PMID:24370118|PMID:24806883|PMID:25157968|PMID:25741868|PMID:26467218|PMID:26619011|PMID:26661077|PMID:2674680|PMID:26980726|PMID:27069254|PMID:27121720|PMID:27276561|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:29692343|PMID:29752777|PMID:2989702|PMID:30417923|PMID:3102434|PMID:31219622|PMID:3122217|PMID:32888943|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:0070004 myeloid neoplasm disease_progression ISO RGD:11018 D RGD:9068941 20200609 RGD PMID:21586752|REF_RGD_ID:11535055 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:0080188 chronic myelomonocytic leukemia onset ISO RGD:11018 D RGD:9068941 20200609 RGD PMID:26082490|REF_RGD_ID:11535058 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:0080690 RASopathy ISO RGD:735648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10598665|PMID:10821536|PMID:12460918|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:17332249|PMID:17384584|PMID:17576681|PMID:17671181|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22220252|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:2278970|PMID:22855653|PMID:23325582|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:23708912|PMID:24033266|PMID:24148783|PMID:24284627|PMID:24671188|PMID:24806883|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26467218|PMID:26619011|PMID:26661077|PMID:2674680|PMID:26821351|PMID:26980726|PMID:27050078|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:29692343|PMID:3122217|PMID:8120410|PMID:9536098 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:0080690 RASopathy ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10598665|PMID:10821536|PMID:12460918|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:17332249|PMID:17384584|PMID:17576681|PMID:17671181|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22220252|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:2278970|PMID:22855653|PMID:23325582|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:23708912|PMID:24033266|PMID:24148783|PMID:24284627|PMID:24671188|PMID:24806883|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26467218|PMID:26619011|PMID:26661077|PMID:2674680|PMID:26821351|PMID:26980726|PMID:27050078|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:29692343|PMID:29752777|PMID:31219622|PMID:3122217|PMID:8120410|PMID:9536098 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:735648 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:16291983|PMID:17332249|PMID:17517660|PMID:18375819|PMID:18390968|PMID:19657110|PMID:19775298|PMID:20130576|PMID:20179705|PMID:21079152|PMID:23414587|PMID:23431193|PMID:2407301|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:27993330|PMID:2989702|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:735648 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:12460918|PMID:16273091|PMID:16291983|PMID:16434492|PMID:17699718|PMID:18390968|PMID:18948947|PMID:19075190|PMID:19657110|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21305640|PMID:21729679|PMID:21829508|PMID:22407852|PMID:2278970|PMID:23134356|PMID:23334668|PMID:23414587|PMID:23515407|PMID:23614898|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:28594414|PMID:30417923|PMID:3122217|PMID:32888943|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:0110117 autoimmune lymphoproliferative syndrome type 4 ISO RGD:735648 D RGD:7240710 20180130 OMIM 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:0110117 autoimmune lymphoproliferative syndrome type 4 ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: RAS-associated autoimmune leukoproliferative disorder PMID:12460918|PMID:16273091|PMID:16291983|PMID:16434492|PMID:17332249|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19775298|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21305640|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:2278970|PMID:23414587|PMID:23431193|PMID:23515407|PMID:2407301|PMID:24284627|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:2989702|PMID:3122217|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:735648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:0111162 epidermal nevus ISO RGD:735648 D RGD:7240710 20180130 OMIM 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:0111162 epidermal nevus ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epidermal nevus | ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC PMID:12460918|PMID:12727991|PMID:14508525|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17332249|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23392294|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24284627|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:28098151|PMID:28492532|PMID:28594414|PMID:3122217|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:0111359 large congenital melanocytic nevus ISO RGD:735648 D RGD:7240710 20180130 OMIM 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:0111359 large congenital melanocytic nevus ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3102434|PMID:3122217|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:735648 D RGD:7240710 20180130 OMIM 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:735648 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Linear nevus sebaceous PMID:12460918|PMID:12727991|PMID:14508525|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18948947|PMID:19075190|PMID:19880792|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23392294|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:3122217|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:10283 prostate cancer disease_progression ISO RGD:735648 D RGD:9068941 20200609 RGD PMID:18334737|REF_RGD_ID:2314837 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:1040 chronic lymphocytic leukemia ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:1240 leukemia onset ISO RGD:11018 D RGD:9068941 20200609 RGD PMID:27109513|REF_RGD_ID:11535059 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:14566 disease of cellular proliferation ISO RGD:735648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasms PMID:16291983|PMID:18390968|PMID:19657110|PMID:20130576|PMID:20179705|PMID:23414587|PMID:25157968|PMID:26619011|PMID:2674680|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:1520 colon carcinoma ISO RGD:735648 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colon carcinoma PMID:16291983|PMID:18390968|PMID:18633438|PMID:20130576|PMID:20179705|PMID:22962325|PMID:23414587|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:3102434|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:1909 melanoma ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:24918823|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:1984 rectal benign neoplasm ISO RGD:735648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3102434 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:2234 focal epilepsy ISO RGD:735648 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868|PMID:29493581 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:2355 anemia ISO RGD:735648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:32581362 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:2671 transitional cell carcinoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17332249|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28492532|PMID:28780248|PMID:2989702|PMID:3102434|PMID:3122217|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:3068 glioblastoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:3490 Noonan syndrome ISO RGD:735648 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:10598665|PMID:12460918|PMID:14982869|PMID:15046639|PMID:15831708|PMID:16273091|PMID:16291983|PMID:16518851|PMID:17384584|PMID:17671181|PMID:17699718|PMID:18390968|PMID:18794081|PMID:18952898|PMID:19047918|PMID:19657110|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21263000|PMID:21305640|PMID:21729679|PMID:21829508|PMID:22220252|PMID:22855653|PMID:23325582|PMID:23414587|PMID:23708912|PMID:24033266|PMID:24806883|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26980726|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28492532|PMID:28594414|PMID:29692343|PMID:29752777|PMID:31219622|PMID:32581362|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:3490 Noonan syndrome ISO RGD:735648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:10598665|PMID:12460918|PMID:14982869|PMID:15046639|PMID:15831708|PMID:16273091|PMID:16291983|PMID:16518851|PMID:17384584|PMID:17671181|PMID:17699718|PMID:18390968|PMID:18794081|PMID:18952898|PMID:19047918|PMID:19657110|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21263000|PMID:21305640|PMID:21729679|PMID:21829508|PMID:22220252|PMID:22855653|PMID:23325582|PMID:23414587|PMID:23708912|PMID:24033266|PMID:24806883|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26980726|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28098151|PMID:28492532|PMID:28594414|PMID:29692343|PMID:29752777|PMID:31219622|PMID:32581362|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:3512 neurofibrosarcoma ISO RGD:735648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16239399 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:363 uterine cancer ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:30417923|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:3717 gastric adenocarcinoma ISO RGD:735648 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:3717 gastric adenocarcinoma ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:3908 lung non-small cell carcinoma ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer | ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:30417923|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:3948 adrenocortical carcinoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:4362 cervical cancer ISO RGD:735648 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:14984964|REF_RGD_ID:2314838 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:4450 renal cell carcinoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:630 genetic disease ISO RGD:735648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:6536 plasma cell neoplasm ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:735648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17517660 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:732909 D RGD:9068941 20200609 RGD human gene in mouse model PMID:21993994|REF_RGD_ID:14696775 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma severity ISO RGD:735648 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (mouse, human) PMID:30685691|REF_RGD_ID:14696793 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:686 liver carcinoma ISO RGD:735648 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:3018923|REF_RGD_ID:14975106 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:707 B-cell lymphoma ISO RGD:735648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14633661 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:769 neuroblastoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:10821536|PMID:12460918|PMID:15899789|PMID:16273091|PMID:16291983|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19657110|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21729679|PMID:21829508|PMID:22718121|PMID:22761467|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24148783|PMID:24671188|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:8552 chronic myeloid leukemia ISO RGD:735648 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia PMID:12460918|PMID:16273091|PMID:16291983|PMID:16434492|PMID:17699718|PMID:18390968|PMID:18948947|PMID:19075190|PMID:19657110|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21305640|PMID:21729679|PMID:21829508|PMID:22407852|PMID:2278970|PMID:23134356|PMID:23334668|PMID:23414587|PMID:23515407|PMID:23614898|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:28594414|PMID:30417923|PMID:3122217|PMID:32888943|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:8923 skin melanoma ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9000217 Stomach Neoplasms ISO RGD:735648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:25157968 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9001039 Leukocytosis ISO RGD:735648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:735648 D RGD:9068941 20200609 RGD human gene in mouse model PMID:16286660|REF_RGD_ID:14975105 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9002170 Experimental Neoplasms ISO RGD:735648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9205081 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9002457 Experimental Arthritis ISO RGD:3205 D RGD:9068941 20200609 RGD PMID:18706093|REF_RGD_ID:2300006 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9002650 Sebaceous Nevus Syndrome and Hemimegalencephaly ISO RGD:735648 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly PMID:12460918|PMID:12727991|PMID:14508525|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18948947|PMID:19075190|PMID:19880792|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23392294|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:3122217|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9002720 Splenomegaly ISO RGD:735648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9003571 Paraproteinemias ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9004441 Experimental Leukemia induced ISO RGD:3205 D RGD:9068941 20200609 RGD DNA:transversion mutation, loss of heterozygosity:cds: PMID:9142215|REF_RGD_ID:11535063 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9004547 Thyroid Neoplasms ISO RGD:735648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:12460918|PMID:16291983|PMID:18390968|PMID:18948947|PMID:19657110|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:21576590|PMID:22761467|PMID:23076151|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24370118|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:28492532|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9004672 Neurocutaneous Melanosis ISO RGD:735648 D RGD:7240710 20180130 OMIM 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9004672 Neurocutaneous Melanosis ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurocutaneous melanosis syndrome PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:735648 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9005120 Pigmented Nevus ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PIGMENTED MOLES PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3102434|PMID:3122217|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nasopharyngeal Neoplasms PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9005474 Experimental Sarcoma ISO RGD:3205 D RGD:9068941 20200609 RGD DNA:transversion:exon p.Q61L (human) PMID:11295286|REF_RGD_ID:1598680 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:735648 D RGD:7240710 20180130 OMIM 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:735648 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:12460918|PMID:12727991|PMID:14508525|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18948947|PMID:19075190|PMID:19880792|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23392294|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:3122217|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9006618 Liver Metastasis ISO RGD:735648 D RGD:9068941 20200609 RGD human gene in a mouse model;DNA:missense mutations:cds:p.G12V, p.Q61K (human) PMID:26799184|REF_RGD_ID:14696774 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9006618 Liver Metastasis susceptibility ISO RGD:735648 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutations:exons (human) PMID:28011498|REF_RGD_ID:14696792 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9006618 Liver Metastasis susceptibility ISO RGD:735648 D RGD:9068941 20200609 RGD associated with melanoma;DNA:mutations: exons (human) PMID:28787433|REF_RGD_ID:14696791 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9007364 Mouth Neoplasms disease_progression ISO RGD:3205 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17708355|REF_RGD_ID:2303822 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9007502 Brain Neoplasms ISO RGD:735648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain Neoplasms PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9007502 Brain Neoplasms ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Brain Neoplasms PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9008443 Colorectal Neoplasms ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:11018 D RGD:9068941 20200609 RGD PMID:18952898|REF_RGD_ID:11070616 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:735648 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: PMID:25204082|REF_RGD_ID:11535045 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9256 colorectal cancer ISO RGD:735648 D RGD:7240710 20200226 OMIM 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9256 colorectal cancer ISO RGD:735648 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:17671181|PMID:22220252|PMID:23325582|PMID:23708912|PMID:24806883|PMID:25741868|PMID:26980726|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28492532|PMID:28594414|PMID:29692343 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9446 cholangitis ISO RGD:735648 D RGD:9068941 20200609 RGD mRNA:increased expression:cd4-positive helper T cells (human) PMID:30690835|REF_RGD_ID:14975104 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9538 multiple myeloma ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9538 multiple myeloma treatment ISO RGD:735648 D RGD:9068941 20200609 RGD DNA:mutation: : PMID:24335104|REF_RGD_ID:11535049 12425093 NRAS NRAS proto-oncogene, GTPase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:735648 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: PMID:25204082|REF_RGD_ID:11535045 12425104 FASLG Fas ligand gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1553064 D RGD:9068941 20200609 RGD PMID:15148335|REF_RGD_ID:11049166 12425104 FASLG Fas ligand gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1606342 D RGD:9068941 20200609 RGD associated with Biliary Tract Disease;protein:decreased expression:serum PMID:15287856|REF_RGD_ID:2317742 12425104 FASLG Fas ligand gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:15138553|REF_RGD_ID:2317743 12425104 FASLG Fas ligand gene DOID:0050700 cardiomyopathy ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16324756|PMID:17943461 12425104 FASLG Fas ligand gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606342 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:bone marrow: PMID:9557605|REF_RGD_ID:11049447 12425104 FASLG Fas ligand gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:decreased expression:peripheral blood mononuclear cell: PMID:15686130|REF_RGD_ID:11049448 12425104 FASLG Fas ligand gene DOID:0060108 brain glioma treatment ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:29324390|REF_RGD_ID:13792598 12425104 FASLG Fas ligand gene DOID:0060500 drug allergy ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19706026 12425104 FASLG Fas ligand gene DOID:0081267 graft-versus-host disease ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:9404931|REF_RGD_ID:11049160 12425104 FASLG Fas ligand gene DOID:0081267 graft-versus-host disease ISO RGD:3880 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:10452880|REF_RGD_ID:14700681 12425104 FASLG Fas ligand gene DOID:10591 pre-eclampsia susceptibility ISO RGD:1606342 D RGD:9068941 20200609 RGD DNA:SNP:intron:124A>G(rs5030772)(human) PMID:30066360|REF_RGD_ID:14700669 12425104 FASLG Fas ligand gene DOID:10808 gastric ulcer treatment ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:29339218|REF_RGD_ID:13792597 12425104 FASLG Fas ligand gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:1606342 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:-844T>C PMID:16538171|REF_RGD_ID:2290063 12425104 FASLG Fas ligand gene DOID:11713 diabetic angiopathy ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 12425104 FASLG Fas ligand gene DOID:11713 diabetic angiopathy ISO RGD:1606342 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:15803113|REF_RGD_ID:2315753 12425104 FASLG Fas ligand gene DOID:127 leiomyoma ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:myometrium PMID:18000229|REF_RGD_ID:2292498 12425104 FASLG Fas ligand gene DOID:12858 Huntington's disease ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:decreased expression:putamen,caudate: PMID:11054182|REF_RGD_ID:12903948 12425104 FASLG Fas ligand gene DOID:12930 dilated cardiomyopathy ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17943461 12425104 FASLG Fas ligand gene DOID:13133 HELLP syndrome ISO RGD:3880 D RGD:9068941 20200609 RGD protein:altered expression:blood, placenta, liver: PMID:28501275|REF_RGD_ID:14700673 12425104 FASLG Fas ligand gene DOID:13133 HELLP syndrome susceptibility ISO RGD:1606342 D RGD:9068941 20200609 RGD DNA:SNP:intron:124A>G(rs5030772)(human) PMID:30066360|REF_RGD_ID:14700669 12425104 FASLG Fas ligand gene DOID:1324 lung cancer ISO RGD:1606342 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:17605793|PMID:25741868|PMID:28492532 12425104 FASLG Fas ligand gene DOID:13767 clonorchiasis ISO RGD:1606342 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:18427836|REF_RGD_ID:2315733 12425104 FASLG Fas ligand gene DOID:13767 clonorchiasis ISO RGD:3880 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:18427836|REF_RGD_ID:2315733 12425104 FASLG Fas ligand gene DOID:13809 familial combined hyperlipidemia ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15063428 12425104 FASLG Fas ligand gene DOID:14330 Parkinson's disease ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:decreased expression:neurones of the substantia nigra pars: PMID:11054182|REF_RGD_ID:12903948 12425104 FASLG Fas ligand gene DOID:14330 Parkinson's disease ISO RGD:3880 D RGD:9068941 20200609 RGD protein:increased expression:substantia nigra pars compacta, striatum (rat) PMID:17959308|REF_RGD_ID:2290172 12425104 FASLG Fas ligand gene DOID:1485 cystic fibrosis ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:10567629|REF_RGD_ID:12904024 12425104 FASLG Fas ligand gene DOID:1540 parathyroid carcinoma ISO RGD:1606342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12425104 FASLG Fas ligand gene DOID:1577 limited scleroderma ISO RGD:1553064 D RGD:9068941 20200609 RGD PMID:17102953|REF_RGD_ID:12903974 12425104 FASLG Fas ligand gene DOID:1793 pancreatic cancer ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:11115536|REF_RGD_ID:2317745 12425104 FASLG Fas ligand gene DOID:1793 pancreatic cancer resistance ISO RGD:1606342 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-844>>T (human) PMID:18483392|REF_RGD_ID:2315744 12425104 FASLG Fas ligand gene DOID:1793 pancreatic cancer severity ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:12370548|REF_RGD_ID:2317744 12425104 FASLG Fas ligand gene DOID:1909 melanoma ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16487513 12425104 FASLG Fas ligand gene DOID:1909 melanoma susceptibility ISO RGD:1606342 D RGD:9068941 20200609 RGD DNA:polymorphisms,haplotype:promoter:-844C>T,IVS2nt-124A>G(human) PMID:16538172|REF_RGD_ID:12903985 12425104 FASLG Fas ligand gene DOID:1936 atherosclerosis ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15063428 12425104 FASLG Fas ligand gene DOID:2043 hepatitis B ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:12526294|REF_RGD_ID:14700675 12425104 FASLG Fas ligand gene DOID:2048 autoimmune hepatitis treatment ISO RGD:1553064 D RGD:9068941 20200609 RGD PMID:28551553|REF_RGD_ID:14700710 12425104 FASLG Fas ligand gene DOID:2237 hepatitis ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19706026 12425104 FASLG Fas ligand gene DOID:2237 hepatitis severity ISO RGD:1553064 D RGD:9068941 20200609 RGD PMID:28406481|REF_RGD_ID:14401591 12425104 FASLG Fas ligand gene DOID:2316 brain ischemia ISO RGD:3880 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:18410517|REF_RGD_ID:2311437 12425104 FASLG Fas ligand gene DOID:2377 multiple sclerosis ISO RGD:1606342 D RGD:9068941 20200609 RGD DNA:repeat:promoter:g.-46(CA)11-15 (human) PMID:11438180|REF_RGD_ID:1358622 12425104 FASLG Fas ligand gene DOID:2377 multiple sclerosis ISO RGD:1606342 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 12425104 FASLG Fas ligand gene DOID:2519 testicular disease ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19429229 12425104 FASLG Fas ligand gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:12470426|PMID:12651606|REF_RGD_ID:2290076|REF_RGD_ID:2290077 12425104 FASLG Fas ligand gene DOID:303 substance-related disorder ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:15644446|REF_RGD_ID:1358616 12425104 FASLG Fas ligand gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:29208459|REF_RGD_ID:13792601 12425104 FASLG Fas ligand gene DOID:3407 carotid artery disease ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15063428 12425104 FASLG Fas ligand gene DOID:3457 invasive lobular carcinoma ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:10640988|REF_RGD_ID:2290134 12425104 FASLG Fas ligand gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:10547193|REF_RGD_ID:2317747 12425104 FASLG Fas ligand gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, liver PMID:15375495|REF_RGD_ID:2317741 12425104 FASLG Fas ligand gene DOID:3908 lung non-small cell carcinoma ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21807637 12425104 FASLG Fas ligand gene DOID:409 liver disease treatment ISO RGD:3880 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:29852394|REF_RGD_ID:13792574 12425104 FASLG Fas ligand gene DOID:4440 seminoma ISO RGD:1606342 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:testis PMID:17916181|REF_RGD_ID:2290049 12425104 FASLG Fas ligand gene DOID:4450 renal cell carcinoma ISO RGD:1553064 D RGD:9068941 20200609 RGD PMID:11435457|PMID:17641033|REF_RGD_ID:2290051|REF_RGD_ID:2290132 12425104 FASLG Fas ligand gene DOID:4928 intrahepatic cholangiocarcinoma severity ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:11003620|REF_RGD_ID:14700701 12425104 FASLG Fas ligand gene DOID:4947 cholangiocarcinoma ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:11029528|REF_RGD_ID:2317746 12425104 FASLG Fas ligand gene DOID:6000 congestive heart failure treatment ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:29746994|REF_RGD_ID:13792577 12425104 FASLG Fas ligand gene DOID:630 genetic disease ISO RGD:1606342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12425104 FASLG Fas ligand gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1606342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:16627752|PMID:17576681|PMID:17605793|PMID:21368861|PMID:22857792|PMID:25451160|PMID:25741868|PMID:26334989|PMID:26456038|PMID:28492532|PMID:8787672|PMID:9536098 12425104 FASLG Fas ligand gene DOID:6688 autoimmune lymphoproliferative syndrome susceptibility ISO RGD:1606342 D RGD:7240710 20230505 OMIM 12425104 FASLG Fas ligand gene DOID:684 hepatocellular carcinoma ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:11274632|REF_RGD_ID:14700677 12425104 FASLG Fas ligand gene DOID:7148 rheumatoid arthritis ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 12425104 FASLG Fas ligand gene DOID:7693 abdominal aortic aneurysm ISO RGD:3880 D RGD:9068941 20201002 RGD protein:increased expression:aorta (rat) PMID:15238617|REF_RGD_ID:1302825 12425104 FASLG Fas ligand gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:1606342 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: -844 T>C(human) PMID:26563376|REF_RGD_ID:11049146 12425104 FASLG Fas ligand gene DOID:8568 infectious mononucleosis ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:lymphocyte, serum: PMID:11185989|REF_RGD_ID:11049152 12425104 FASLG Fas ligand gene DOID:8577 ulcerative colitis treatment ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:30122878|REF_RGD_ID:13792562 12425104 FASLG Fas ligand gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1606342 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections PMID:17433060|REF_RGD_ID:2290052 12425104 FASLG Fas ligand gene DOID:9000011 Gallbladder Neoplasms disease_progression ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:gallbladder PMID:15968727|REF_RGD_ID:2317739 12425104 FASLG Fas ligand gene DOID:9000117 Esophageal Neoplasms ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:esophageal mucosa: PMID:9605741|REF_RGD_ID:11049151 12425104 FASLG Fas ligand gene DOID:9000965 Neoplasm Metastasis ISO RGD:1606342 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:decreased expression:breast PMID:17352235|REF_RGD_ID:2290053 12425104 FASLG Fas ligand gene DOID:9001553 Spinal Cord Compression ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord: PMID:21490053|REF_RGD_ID:12904017 12425104 FASLG Fas ligand gene DOID:9001553 Spinal Cord Compression treatment ISO RGD:1553064 D RGD:9068941 20200609 RGD PMID:21490053|REF_RGD_ID:12904017 12425104 FASLG Fas ligand gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:18561025|REF_RGD_ID:14700680 12425104 FASLG Fas ligand gene DOID:9002165 Diabetic Nephropathies ISO RGD:1606342 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:kidney PMID:17851466|REF_RGD_ID:2315705 12425104 FASLG Fas ligand gene DOID:9002231 Fetal Growth Retardation ISO RGD:1606342 D RGD:9068941 20200609 RGD associated with protein:increased expression:serum: PMID:16169656|REF_RGD_ID:12904025 12425104 FASLG Fas ligand gene DOID:9002231 Fetal Growth Retardation severity ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:amniotic fluid: PMID:23582102|REF_RGD_ID:12903972 12425104 FASLG Fas ligand gene DOID:9002283 Experimental Allergic Asthma treatment ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:29713367|REF_RGD_ID:13792581 12425104 FASLG Fas ligand gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17875776 12425104 FASLG Fas ligand gene DOID:9002371 Cardiotoxicity ISO RGD:1553064 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34713381 12425104 FASLG Fas ligand gene DOID:9002371 Cardiotoxicity ISO RGD:1606342 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34713381 12425104 FASLG Fas ligand gene DOID:9002395 Hypothermia ISO RGD:3880 D RGD:9068941 20200609 RGD associated with Brain Ischemia PMID:18410517|REF_RGD_ID:2311437 12425104 FASLG Fas ligand gene DOID:9002457 Experimental Arthritis treatment ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:22354915|REF_RGD_ID:7204500 12425104 FASLG Fas ligand gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:10944459|REF_RGD_ID:12903984 12425104 FASLG Fas ligand gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:1553064 D RGD:9068941 20200609 RGD PMID:17102953|REF_RGD_ID:12903974 12425104 FASLG Fas ligand gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1606342 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections PMID:17433060|REF_RGD_ID:2290052 12425104 FASLG Fas ligand gene DOID:9004058 Immunodeficiency 98 with Autoinflammation, X-Linked ISO RGD:1606342 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Immunodeficiency 98 with autoinflammation, X-linked PMID:28492532 12425104 FASLG Fas ligand gene DOID:9004283 Transplant Rejection ISO RGD:3880 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:10357921|REF_RGD_ID:14700698 12425104 FASLG Fas ligand gene DOID:9004484 Sepsis ISO RGD:3880 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:17899301|REF_RGD_ID:2290175 12425104 FASLG Fas ligand gene DOID:9004590 Acute Liver Failure ISO RGD:1553064 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:18946736|REF_RGD_ID:14700674 12425104 FASLG Fas ligand gene DOID:9004590 Acute Liver Failure ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19505222 12425104 FASLG Fas ligand gene DOID:9004590 Acute Liver Failure ISO RGD:1606342 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, lymphocyte, serum: PMID:10950056|REF_RGD_ID:14700697 12425104 FASLG Fas ligand gene DOID:9004590 Acute Liver Failure ISO RGD:1606342 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:16279913|REF_RGD_ID:14401578 12425104 FASLG Fas ligand gene DOID:9004610 Acute Lung Injury ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11778176 12425104 FASLG Fas ligand gene DOID:9004779 Autoimmune Lymphoproliferative Syndrome, Type IB ISO RGD:1606342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1b PMID:25741868|PMID:8787672 12425104 FASLG Fas ligand gene DOID:9005172 Lung Neoplasms ISO RGD:1606342 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 12425104 FASLG Fas ligand gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:1606342 D RGD:7240710 20230505 OMIM 12425104 FASLG Fas ligand gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3880 D RGD:9068941 20200609 RGD protein:increased expression:heart ventricle PMID:19820199|REF_RGD_ID:2314021 12425104 FASLG Fas ligand gene DOID:9005749 Necrosis ISO RGD:1553064 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15664267 12425104 FASLG Fas ligand gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:29285062|REF_RGD_ID:13792599 12425104 FASLG Fas ligand gene DOID:9006741 Acute Hepatitis ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:10950056|REF_RGD_ID:14700697 12425104 FASLG Fas ligand gene DOID:9006741 Acute Hepatitis ISO RGD:3880 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11290807|REF_RGD_ID:14401580 12425104 FASLG Fas ligand gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:1553064 D RGD:9068941 20200609 RGD protein:increased expression:Kupffer cell: PMID:15797225|REF_RGD_ID:14700708 12425104 FASLG Fas ligand gene DOID:9007558 Acute Experimental Pancreatitis severity ISO RGD:1553064 D RGD:9068941 20200609 RGD PMID:15797225|REF_RGD_ID:14700708 12425104 FASLG Fas ligand gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1606342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12425104 FASLG Fas ligand gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:29170412|REF_RGD_ID:13792603 12425104 FASLG Fas ligand gene DOID:9008691 Liver Injury treatment ISO RGD:1553064 D RGD:9068941 20200609 RGD PMID:11698468|REF_RGD_ID:14401579 12425104 FASLG Fas ligand gene DOID:9008939 Breast Neoplasms ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:10640988|REF_RGD_ID:2290134 12425104 FASLG Fas ligand gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:1606342 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-844T>C PMID:17183065|REF_RGD_ID:2290054 12425104 FASLG Fas ligand gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12425104 FASLG Fas ligand gene DOID:9352 type 2 diabetes mellitus ISO RGD:1606342 D RGD:9068941 20200609 RGD DNA:repeats:3' utr (human) PMID:16691186|REF_RGD_ID:2315750 12425104 FASLG Fas ligand gene DOID:9538 multiple myeloma disease_progression ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:16321857|REF_RGD_ID:11049149 12425104 FASLG Fas ligand gene DOID:9744 type 1 diabetes mellitus ISO RGD:1553064 D RGD:9068941 20220825 MouseDO OMIM:222100 12425104 FASLG Fas ligand gene DOID:9744 type 1 diabetes mellitus ISO RGD:1606342 D RGD:9068941 20200609 RGD mRNA:decreased expression:lymphocyte PMID:16180659|REF_RGD_ID:2315751 12425104 FASLG Fas ligand gene DOID:9744 type 1 diabetes mellitus ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:lymphocyte PMID:19120316|REF_RGD_ID:2315742 12425104 FASLG Fas ligand gene DOID:9744 type 1 diabetes mellitus ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:17324464|REF_RGD_ID:2315748 12425112 SLC5A3 solute carrier family 5 member 3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:734339 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12425112 SLC5A3 solute carrier family 5 member 3 gene DOID:0060898 Parkinson's disease 20 ISO RGD:734339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 12425112 SLC5A3 solute carrier family 5 member 3 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:734339 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12425112 SLC5A3 solute carrier family 5 member 3 gene DOID:1588 thrombocytopenia ISO RGD:734339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 12425112 SLC5A3 solute carrier family 5 member 3 gene DOID:3312 bipolar disorder ISO RGD:734339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16420717 12425112 SLC5A3 solute carrier family 5 member 3 gene DOID:3393 coronary artery disease ISO RGD:734339 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 12425112 SLC5A3 solute carrier family 5 member 3 gene DOID:4450 renal cell carcinoma ISO RGD:734339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 12425112 SLC5A3 solute carrier family 5 member 3 gene DOID:630 genetic disease ISO RGD:734339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425112 SLC5A3 solute carrier family 5 member 3 gene DOID:9005698 ZTTK Syndrome ISO RGD:734339 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 12425123 NFYA nuclear transcription factor Y subunit alpha gene DOID:630 genetic disease ISO RGD:733450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425123 NFYA nuclear transcription factor Y subunit alpha gene DOID:9005172 Lung Neoplasms ISO RGD:733450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16271038 12425168 TPPP2 tubulin polymerization promoting protein family member 2 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1343731 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12425168 TPPP2 tubulin polymerization promoting protein family member 2 gene DOID:630 genetic disease ISO RGD:1343731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425168 TPPP2 tubulin polymerization promoting protein family member 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343731 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12425200 TDG thymine DNA glycosylase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1346610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 12425200 TDG thymine DNA glycosylase gene DOID:630 genetic disease ISO RGD:1346610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425200 TDG thymine DNA glycosylase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1617602 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland tumor (mouse) PMID:9794235|REF_RGD_ID:2317355 12425214 CCDC81 coiled-coil domain containing 81 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1605353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 12425214 CCDC81 coiled-coil domain containing 81 gene DOID:1059 intellectual disability ISO RGD:1605353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12425214 CCDC81 coiled-coil domain containing 81 gene DOID:630 genetic disease ISO RGD:1605353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425238 PIWIL1 piwi like RNA-mediated gene silencing 1 gene DOID:303 substance-related disorder ISO RGD:1315902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12425238 PIWIL1 piwi like RNA-mediated gene silencing 1 gene DOID:630 genetic disease ISO RGD:1315902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425267 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1348300 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12425267 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1348300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12425267 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:0080690 RASopathy ISO RGD:1348300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12425267 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1348300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12425267 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:0110651 long QT syndrome 10 ISO RGD:1348300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12425267 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1348300 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12425267 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:1348300 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12425267 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:1348300 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12425267 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:1348300 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12425267 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:5419 schizophrenia ISO RGD:1348300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12425267 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:630 genetic disease ISO RGD:1348300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425267 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12425267 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:9006140 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies ISO RGD:1348300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies PMID:25741868|PMID:31794024|PMID:32125366|PMID:32901138 12425267 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:9006238 Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy ISO RGD:1348300 D RGD:7240710 20200318 OMIM 12425267 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:9006238 Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy ISO RGD:1348300 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy PMID:25741868|PMID:31794024|PMID:32125366|PMID:32901138|PMID:34878169 12425267 TRAPPC4 trafficking protein particle complex subunit 4 gene DOID:9007661 Dwarfism ISO RGD:1348300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12425276 RERE arginine-glutamic acid dipeptide repeats gene DOID:0060041 autism spectrum disorder ISO RGD:1344336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12425276 RERE arginine-glutamic acid dipeptide repeats gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1344336 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12425276 RERE arginine-glutamic acid dipeptide repeats gene DOID:12849 autistic disorder ISO RGD:1344336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12425276 RERE arginine-glutamic acid dipeptide repeats gene DOID:630 genetic disease ISO RGD:1344336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26350515|PMID:27087320|PMID:28492532 12425276 RERE arginine-glutamic acid dipeptide repeats gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1344336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12425276 RERE arginine-glutamic acid dipeptide repeats gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12425276 RERE arginine-glutamic acid dipeptide repeats gene DOID:9004468 Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart ISO RGD:1344336 D RGD:7240710 20190315 OMIM 12425276 RERE arginine-glutamic acid dipeptide repeats gene DOID:9004468 Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart ISO RGD:1344336 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart PMID:25741868|PMID:26350515|PMID:27087320|PMID:28492532|PMID:29330883 12425276 RERE arginine-glutamic acid dipeptide repeats gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1344336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515|PMID:27087320 12425276 RERE arginine-glutamic acid dipeptide repeats gene DOID:9008086 Developmental Disabilities ISO RGD:1344336 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 12425276 RERE arginine-glutamic acid dipeptide repeats gene DOID:9008582 Developmental Disease ISO RGD:1344336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12425309 DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1315195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12425309 DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1315195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 12425309 DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1315195 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 12425309 DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:1682 congenital heart disease ISO RGD:1315195 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 12425309 DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:1826 epilepsy ISO RGD:1315195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12425309 DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1315195 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12425309 DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1315195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12425309 DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:630 genetic disease ISO RGD:1315195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425330 TIPRL TOR signaling pathway regulator gene DOID:0111942 immunodeficiency 25 ISO RGD:1605834 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 12425330 TIPRL TOR signaling pathway regulator gene DOID:1540 parathyroid carcinoma ISO RGD:1605834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12425330 TIPRL TOR signaling pathway regulator gene DOID:630 genetic disease ISO RGD:1605834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425330 TIPRL TOR signaling pathway regulator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12425341 NIN ninein gene DOID:0070011 Seckel syndrome 7 ISO RGD:1315140 D RGD:7240710 20180130 OMIM 12425341 NIN ninein gene DOID:0070011 Seckel syndrome 7 ISO RGD:1315140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome 7 PMID:22933543|PMID:25741868|PMID:28492532 12425341 NIN ninein gene DOID:630 genetic disease ISO RGD:1315140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12425400 PSMD11 proteasome 26S subunit, non-ATPase 11 gene DOID:630 genetic disease ISO RGD:1315074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425400 PSMD11 proteasome 26S subunit, non-ATPase 11 gene DOID:9004590 Acute Liver Failure ISO RGD:1315074 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 12425418 ZNF280C zinc finger protein 280C gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12425418 ZNF280C zinc finger protein 280C gene DOID:12849 autistic disorder ISO RGD:1349297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12425418 ZNF280C zinc finger protein 280C gene DOID:630 genetic disease ISO RGD:1349297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425447 ACO1 aconitase 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:2019 D RGD:9068941 20200609 RGD protein:increased activity:liver PMID:23805238|REF_RGD_ID:11541090 12425447 ACO1 aconitase 1 gene DOID:1724 duodenal ulcer ISO RGD:2019 D RGD:9068941 20200609 RGD protein:increased activity:duodenal mucosa PMID:19342511|REF_RGD_ID:11541091 12425447 ACO1 aconitase 1 gene DOID:630 genetic disease ISO RGD:10067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425447 ACO1 aconitase 1 gene DOID:8398 osteoarthritis ISO RGD:10067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 12425447 ACO1 aconitase 1 gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:2019 D RGD:9068941 20200609 RGD PMID:20176611|REF_RGD_ID:11541086 12425447 ACO1 aconitase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:10067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20390345 12425447 ACO1 aconitase 1 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:2019 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:22639386|REF_RGD_ID:11541085 12425476 ERMAP erythroblast membrane associated protein gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1320643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12425476 ERMAP erythroblast membrane associated protein gene DOID:1098 fetal erythroblastosis ISO RGD:1320643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Radin blood group PMID:12393480 12425476 ERMAP erythroblast membrane associated protein gene DOID:630 genetic disease ISO RGD:1320643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425491 SLC20A1 solute carrier family 20 member 1 gene DOID:289 endometriosis ISO RGD:1349725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12425491 SLC20A1 solute carrier family 20 member 1 gene DOID:630 genetic disease ISO RGD:1349725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425491 SLC20A1 solute carrier family 20 member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12425491 SLC20A1 solute carrier family 20 member 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1349725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26773408 12425491 SLC20A1 solute carrier family 20 member 1 gene DOID:9004397 calcification of aortic valve ISO RGD:1349725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23308213 12425505 CST6 cystatin E/M gene DOID:0060713 autosomal recessive congenital ichthyosis 4B ISO RGD:733622 D RGD:9068941 20220825 MouseDO OMIM:242500 12425505 CST6 cystatin E/M gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1352727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 12425505 CST6 cystatin E/M gene DOID:0111651 ectodermal dysplasia 15 ISO RGD:1352727 D RGD:7240710 20190904 OMIM 12425505 CST6 cystatin E/M gene DOID:0111651 ectodermal dysplasia 15 ISO RGD:1352727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 15, hypohidrotic/hair type PMID:25741868|PMID:30425301 12425505 CST6 cystatin E/M gene DOID:1059 intellectual disability ISO RGD:1352727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12425505 CST6 cystatin E/M gene DOID:1909 melanoma ISO RGD:1352727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12425505 CST6 cystatin E/M gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12425505 CST6 cystatin E/M gene DOID:2746 glycogen storage disease V ISO RGD:1352727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12425505 CST6 cystatin E/M gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043644 12425505 CST6 cystatin E/M gene DOID:630 genetic disease ISO RGD:1352727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425505 CST6 cystatin E/M gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19503093 12425505 CST6 cystatin E/M gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1352727 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12425505 CST6 cystatin E/M gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1352727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12425505 CST6 cystatin E/M gene DOID:9008939 Breast Neoplasms ISO RGD:1352727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043665 12425512 MARK4 microtubule affinity regulating kinase 4 gene DOID:630 genetic disease ISO RGD:1321076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425533 TMEM161A transmembrane protein 161A gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1603037 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 12425533 TMEM161A transmembrane protein 161A gene DOID:630 genetic disease ISO RGD:1603037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425533 TMEM161A transmembrane protein 161A gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1603037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12425566 UBR1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:10907 microcephaly ISO RGD:1347280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12425566 UBR1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:1287 cardiovascular system disease ISO RGD:1347280 D RGD:9068941 20230128 RGD DNA:splice-site mutation:cds:IVS26+5G>A (human) PMID:19006206|REF_RGD_ID:155882462 12425566 UBR1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:14694 Johanson-Blizzard syndrome ISO RGD:1347280 D RGD:7240710 20180130 OMIM 12425566 UBR1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:14694 Johanson-Blizzard syndrome ISO RGD:1347280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Johanson-Blizzard syndrome PMID:16311597|PMID:18553553|PMID:19006206|PMID:23778732|PMID:24033266|PMID:24599544|PMID:25741868|PMID:28492532 12425566 UBR1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:1936 atherosclerosis ISO RGD:1347280 D RGD:9068941 20230128 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) PMID:33381146|REF_RGD_ID:155882464 12425566 UBR1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:2717 Bloom syndrome ISO RGD:1347280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12425566 UBR1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:630 genetic disease ISO RGD:1347280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24599544|PMID:26989884|PMID:28492532 12425566 UBR1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:9256 colorectal cancer ISO RGD:1347280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12425628 BCHE butyrylcholinesterase gene DOID:0050655 Bamforth-Lazarus syndrome ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16884476 12425628 BCHE butyrylcholinesterase gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:20122907|REF_RGD_ID:5687690 12425628 BCHE butyrylcholinesterase gene DOID:0050847 sleep apnea ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18555211 12425628 BCHE butyrylcholinesterase gene DOID:0060041 autism spectrum disorder ISO RGD:732174 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12425628 BCHE butyrylcholinesterase gene DOID:0110636 congenital merosin-deficient muscular dystrophy 1A ISO RGD:732175 D RGD:9068941 20200609 RGD PMID:12383920|REF_RGD_ID:5688132 12425628 BCHE butyrylcholinesterase gene DOID:10113 trypanosomiasis ISO RGD:619996 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:20138875|REF_RGD_ID:5687328 12425628 BCHE butyrylcholinesterase gene DOID:10652 Alzheimer's disease ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23022600 12425628 BCHE butyrylcholinesterase gene DOID:10652 Alzheimer's disease ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:22012848|REF_RGD_ID:5687327 12425628 BCHE butyrylcholinesterase gene DOID:10652 Alzheimer's disease severity ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:16973370|REF_RGD_ID:5688056 12425628 BCHE butyrylcholinesterase gene DOID:10763 hypertension ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:12387587|REF_RGD_ID:1601322 12425628 BCHE butyrylcholinesterase gene DOID:10914 amnestic disorder ISO RGD:619996 D RGD:9068941 20200609 RGD PMID:21771623|REF_RGD_ID:5688134 12425628 BCHE butyrylcholinesterase gene DOID:1168 familial hyperlipidemia ISO RGD:732174 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15219807|REF_RGD_ID:1601321 12425628 BCHE butyrylcholinesterase gene DOID:12858 Huntington's disease ISO RGD:732174 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:2953866|REF_RGD_ID:5688127 12425628 BCHE butyrylcholinesterase gene DOID:1307 dementia ISO RGD:732174 D RGD:9068941 20200609 RGD associated with Parkinson Disease;protein:increased expression:cerebrospinal fluid PMID:2953866|REF_RGD_ID:5688127 12425628 BCHE butyrylcholinesterase gene DOID:13548 secondary Parkinson disease ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30410011 12425628 BCHE butyrylcholinesterase gene DOID:1561 cognitive disorder ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12003252|PMID:20513442 12425628 BCHE butyrylcholinesterase gene DOID:1826 epilepsy ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:7634486|REF_RGD_ID:5688133 12425628 BCHE butyrylcholinesterase gene DOID:2297 leptospirosis ISO RGD:619996 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21921108|REF_RGD_ID:5688128 12425628 BCHE butyrylcholinesterase gene DOID:2377 multiple sclerosis ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20122907 12425628 BCHE butyrylcholinesterase gene DOID:3068 glioblastoma ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2317787 12425628 BCHE butyrylcholinesterase gene DOID:3393 coronary artery disease susceptibility ISO RGD:732174 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A539T (human) PMID:17852836|REF_RGD_ID:2306777 12425628 BCHE butyrylcholinesterase gene DOID:3602 toxic encephalopathy ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21620937 12425628 BCHE butyrylcholinesterase gene DOID:4247 coronary restenosis susceptibility ISO RGD:732174 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A539T (human) PMID:17275003|REF_RGD_ID:2306778 12425628 BCHE butyrylcholinesterase gene DOID:4450 renal cell carcinoma ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18482720 12425628 BCHE butyrylcholinesterase gene DOID:5419 schizophrenia ISO RGD:732174 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22123563|REF_RGD_ID:5687326 12425628 BCHE butyrylcholinesterase gene DOID:543 dystonia ISO RGD:732174 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:2953866|REF_RGD_ID:5688127 12425628 BCHE butyrylcholinesterase gene DOID:630 genetic disease ISO RGD:732174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425628 BCHE butyrylcholinesterase gene DOID:655 inherited metabolic disorder susceptibility ISO RGD:732174 D RGD:9068941 20200609 RGD butyrylcholinesterase deficiency;DNA:missense mutation: :p.A199V PMID:9694584|REF_RGD_ID:1601328 12425628 BCHE butyrylcholinesterase gene DOID:769 neuroblastoma ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2317787 12425628 BCHE butyrylcholinesterase gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15121994 12425628 BCHE butyrylcholinesterase gene DOID:9000046 Poisoning ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20176007|PMID:20513442|PMID:21620937|PMID:21683774|PMID:29183815 12425628 BCHE butyrylcholinesterase gene DOID:9000441 Butyrylcholinesterase Deficiency ISO RGD:732174 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BCHE, H variant | ClinVar Annotator: match by term: Deficiency of butyrylcholine esterase | ClinVar Annotator: match by term: Postanesthetic apnea | ClinVar Annotator: match by term: Pseudocholinesterase E1 deficiency | ClinVar Annotator: match by term: Pseudocholinesterase deficiency PMID:10190327|PMID:10404729|PMID:10446378|PMID:10699053|PMID:11163024|PMID:11575530|PMID:11733654|PMID:12417112|PMID:12724618|PMID:12881446|PMID:1306123|PMID:13437188|PMID:13479831|PMID:1349196|PMID:13711731|PMID:1415224|PMID:14404182|PMID:15563885|PMID:15731589|PMID:15781196|PMID:1611188|PMID:16434405|PMID:1662391|PMID:16788378|PMID:17166756|PMID:17700357|PMID:18075469|PMID:18165570|PMID:18300943|PMID:18555211|PMID:2013061|PMID:20589221|PMID:20879632|PMID:21029050|PMID:21228368|PMID:21637541|PMID:22053728|PMID:22378569|PMID:2253336|PMID:22750491|PMID:23123771|PMID:24033266|PMID:25054547|PMID:25264279|PMID:25448037|PMID:25525159|PMID:25741868|PMID:27031121|PMID:27109752|PMID:27551784|PMID:28492532|PMID:2915989|PMID:3169798|PMID:31980526|PMID:33024248|PMID:3542989|PMID:416211|PMID:6716425|PMID:7618741|PMID:7634491|PMID:8314794|PMID:8554068|PMID:8601326|PMID:8680411|PMID:9047329|PMID:9058093|PMID:9110359|PMID:9187502|PMID:9191541|PMID:9302273|PMID:9388484|PMID:9543549 12425628 BCHE butyrylcholinesterase gene DOID:9000441 Butyrylcholinesterase Deficiency susceptibility ISO RGD:732174 D RGD:7240710 20230505 OMIM 12425628 BCHE butyrylcholinesterase gene DOID:9000459 Acholinesterasemia ISO RGD:732174 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acholinesterasemia PMID:10190327|PMID:10404729|PMID:10446378|PMID:10699053|PMID:11163024|PMID:11575530|PMID:11733654|PMID:12417112|PMID:12724618|PMID:12881446|PMID:13437188|PMID:13479831|PMID:1349196|PMID:13711731|PMID:1415224|PMID:14404182|PMID:15563885|PMID:15731589|PMID:15781196|PMID:1611188|PMID:16434405|PMID:1662391|PMID:16788378|PMID:17166756|PMID:17700357|PMID:18075469|PMID:18165570|PMID:18300943|PMID:18555211|PMID:2013061|PMID:20589221|PMID:20879632|PMID:21029050|PMID:21228368|PMID:21637541|PMID:22053728|PMID:22378569|PMID:2253336|PMID:22750491|PMID:23123771|PMID:24033266|PMID:25054547|PMID:25264279|PMID:25448037|PMID:25525159|PMID:25741868|PMID:27031121|PMID:27109752|PMID:27551784|PMID:28492532|PMID:2915989|PMID:31980526|PMID:33024248|PMID:3542989|PMID:416211|PMID:6716425|PMID:7618741|PMID:7634491|PMID:8314794|PMID:8554068|PMID:8601326|PMID:8680411|PMID:9047329|PMID:9058093|PMID:9110359|PMID:9187502|PMID:9191541|PMID:9302273|PMID:9388484|PMID:9543549 12425628 BCHE butyrylcholinesterase gene DOID:9000543 Death ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18597747 12425628 BCHE butyrylcholinesterase gene DOID:9000790 Postoperative Complications ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6039104 12425628 BCHE butyrylcholinesterase gene DOID:9001745 Fasciculation ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6465587 12425628 BCHE butyrylcholinesterase gene DOID:9002079 Paresis ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2249680 12425628 BCHE butyrylcholinesterase gene DOID:9002362 Hyperkinesis ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12019200 12425628 BCHE butyrylcholinesterase gene DOID:9002371 Cardiotoxicity ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26145887 12425628 BCHE butyrylcholinesterase gene DOID:9002554 Tachycardia ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18597747 12425628 BCHE butyrylcholinesterase gene DOID:9004802 Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type ISO RGD:732174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Butyrylcholinesterase deficiency, fluoride-resistant, Japanese type PMID:10404729|PMID:12417112|PMID:8680411|PMID:9191541|PMID:9388484 12425628 BCHE butyrylcholinesterase gene DOID:9004992 Apnea ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1058931|PMID:12392308|PMID:12881446|PMID:15826794|PMID:1734774|PMID:21029050|PMID:25054547|PMID:38703|PMID:4319258|PMID:4347326|PMID:4698763|PMID:4728581|PMID:4746059|PMID:4850696|PMID:4959505|PMID:4998912|PMID:5365519|PMID:5412891|PMID:5488351|PMID:5667302|PMID:6039104|PMID:6465587|PMID:6859614|PMID:6928942|PMID:7069741|PMID:726855|PMID:7378868|PMID:7788839|PMID:7793179|PMID:900467|PMID:987736 12425628 BCHE butyrylcholinesterase gene DOID:9005246 Paralysis ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1218179|PMID:122883|PMID:1734774|PMID:21228368|PMID:4319258|PMID:4347326|PMID:4362560|PMID:4728581|PMID:5021954|PMID:910611 12425628 BCHE butyrylcholinesterase gene DOID:9005292 Organophosphate Poisoning ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:22981459|PMID:22982776|PMID:23044488|PMID:23123253|PMID:23178380|PMID:23220586|PMID:26239905|PMID:31201777 12425628 BCHE butyrylcholinesterase gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18292872|PMID:18514640|PMID:20060817|PMID:20971807|PMID:22935511|PMID:22960160|PMID:23000451|PMID:25814464 12425628 BCHE butyrylcholinesterase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619996 D RGD:9068941 20200609 RGD PMID:12379509|PMID:16187484|REF_RGD_ID:1599458|REF_RGD_ID:2306781 12425628 BCHE butyrylcholinesterase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619996 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:11478742|REF_RGD_ID:2306783 12425628 BCHE butyrylcholinesterase gene DOID:9005832 Amyloid Plaques ISO RGD:732175 D RGD:9068941 20200609 RGD PMID:22157615|REF_RGD_ID:5687325 12425628 BCHE butyrylcholinesterase gene DOID:9005930 Endotoxemia ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:17657467|REF_RGD_ID:5688055 12425628 BCHE butyrylcholinesterase gene DOID:9006588 Trismus ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7378868 12425628 BCHE butyrylcholinesterase gene DOID:9006599 Hypertriglyceridemia ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23000450 12425628 BCHE butyrylcholinesterase gene DOID:9006599 Hypertriglyceridemia ISO RGD:732174 D RGD:9068941 20200609 RGD associated with diabetes mellitus PMID:8149699|REF_RGD_ID:1601335 12425628 BCHE butyrylcholinesterase gene DOID:9006646 Metabolic Syndrome ISO RGD:732174 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15907830|REF_RGD_ID:1601317 12425628 BCHE butyrylcholinesterase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3111302 12425628 BCHE butyrylcholinesterase gene DOID:9007096 Stroke ISO RGD:732174 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20464061|REF_RGD_ID:5688131 12425628 BCHE butyrylcholinesterase gene DOID:9007692 Insulin Resistance ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:17917325|REF_RGD_ID:2306776 12425628 BCHE butyrylcholinesterase gene DOID:9008939 Breast Neoplasms ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23063927 12425628 BCHE butyrylcholinesterase gene DOID:9279 hyperhomocysteinemia ISO RGD:619996 D RGD:9068941 20200609 RGD Protein:increased expression:serum PMID:16442260|REF_RGD_ID:1599454 12425628 BCHE butyrylcholinesterase gene DOID:9352 type 2 diabetes mellitus ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:16442234|REF_RGD_ID:2306780 12425628 BCHE butyrylcholinesterase gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:732174 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A539T (human) PMID:11793025|REF_RGD_ID:2306782 12425628 BCHE butyrylcholinesterase gene DOID:9470 bacterial meningitis ISO RGD:732174 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:21303225|REF_RGD_ID:5688130 12425628 BCHE butyrylcholinesterase gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:732174 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A539T (human) PMID:17026497|REF_RGD_ID:2306779 12425628 BCHE butyrylcholinesterase gene DOID:9884 muscular dystrophy ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22906800 12425628 BCHE butyrylcholinesterase gene DOID:9970 obesity ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18452903|PMID:23000450|PMID:23073171|PMID:27163854 12425642 SKIL SKI like proto-oncogene gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1314830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 12425642 SKIL SKI like proto-oncogene gene DOID:10283 prostate cancer ISO RGD:1314830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12425642 SKIL SKI like proto-oncogene gene DOID:1062 Fanconi syndrome ISO RGD:1314830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 12425642 SKIL SKI like proto-oncogene gene DOID:37 skin disease ISO RGD:1314830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12425642 SKIL SKI like proto-oncogene gene DOID:3770 pulmonary fibrosis ISO RGD:1314830 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23590892 12425642 SKIL SKI like proto-oncogene gene DOID:5199 ureteral obstruction ISO RGD:621399 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:19382458|REF_RGD_ID:2308888 12425642 SKIL SKI like proto-oncogene gene DOID:630 genetic disease ISO RGD:1314830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425642 SKIL SKI like proto-oncogene gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621399 D RGD:9068941 20200609 RGD PMID:19189315|REF_RGD_ID:2308901 12425642 SKIL SKI like proto-oncogene gene DOID:9004018 Paraquat Lung ISO RGD:1314830 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23590892 12425642 SKIL SKI like proto-oncogene gene DOID:9007964 Arsenic Poisoning ISO RGD:1314830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12425657 CCDC15 coiled-coil domain containing 15 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1605034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12425657 CCDC15 coiled-coil domain containing 15 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1605034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12425657 CCDC15 coiled-coil domain containing 15 gene DOID:5419 schizophrenia ISO RGD:1605034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12425657 CCDC15 coiled-coil domain containing 15 gene DOID:630 genetic disease ISO RGD:1605034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425657 CCDC15 coiled-coil domain containing 15 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12425657 CCDC15 coiled-coil domain containing 15 gene DOID:9007661 Dwarfism ISO RGD:1605034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12425726 LOC490356 lymphotactin gene DOID:1540 parathyroid carcinoma ISO RGD:1350360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12425726 LOC490356 lymphotactin gene DOID:2945 severe acute respiratory syndrome ISO RGD:733993 D RGD:9068941 20200619 RGD mRNA:increased expression:lung (mouse) PMID:15356152|REF_RGD_ID:30309221 12425726 LOC490356 lymphotactin gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:620452 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:9717977|REF_RGD_ID:8693304 12425726 LOC490356 lymphotactin gene DOID:630 genetic disease ISO RGD:1350360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425726 LOC490356 lymphotactin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12425734 SMG5 SMG5 nonsense mediated mRNA decay factor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1603683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12425734 SMG5 SMG5 nonsense mediated mRNA decay factor gene DOID:0111940 immunodeficiency 42 ISO RGD:1603683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12425734 SMG5 SMG5 nonsense mediated mRNA decay factor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12425734 SMG5 SMG5 nonsense mediated mRNA decay factor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12425734 SMG5 SMG5 nonsense mediated mRNA decay factor gene DOID:1540 parathyroid carcinoma ISO RGD:1603683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12425734 SMG5 SMG5 nonsense mediated mRNA decay factor gene DOID:5812 MHC class II deficiency ISO RGD:1603683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12425734 SMG5 SMG5 nonsense mediated mRNA decay factor gene DOID:630 genetic disease ISO RGD:1603683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425734 SMG5 SMG5 nonsense mediated mRNA decay factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12425763 DEGS2 delta 4-desaturase, sphingolipid 2 gene DOID:630 genetic disease ISO RGD:1352357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425773 AWAT2 acyl-CoA wax alcohol acyltransferase 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12425773 AWAT2 acyl-CoA wax alcohol acyltransferase 2 gene DOID:10140 dry eye syndrome ISO RGD:1558296 D RGD:9068941 20220825 MouseDO 12425773 AWAT2 acyl-CoA wax alcohol acyltransferase 2 gene DOID:12849 autistic disorder ISO RGD:1606441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12425773 AWAT2 acyl-CoA wax alcohol acyltransferase 2 gene DOID:630 genetic disease ISO RGD:1606441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425782 CCDC70 coiled-coil domain containing 70 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1603195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 12425782 CCDC70 coiled-coil domain containing 70 gene DOID:1059 intellectual disability ISO RGD:1603195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12425782 CCDC70 coiled-coil domain containing 70 gene DOID:630 genetic disease ISO RGD:1603195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425782 CCDC70 coiled-coil domain containing 70 gene DOID:893 Wilson disease ISO RGD:1603195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:28492532 12425788 HOXB7 homeobox B7 gene DOID:3008 invasive ductal carcinoma ISO RGD:1349103 D RGD:9068941 20200609 RGD mRNA:increased expression:breast epithelium (human) PMID:17018609|REF_RGD_ID:10402178 12425788 HOXB7 homeobox B7 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1349103 D RGD:9068941 20200609 RGD protein:increased expression:esophageal mucosa (human) PMID:26076456|REF_RGD_ID:10402177 12425788 HOXB7 homeobox B7 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1349103 D RGD:9068941 20200609 RGD protein:increased expression:lung epithelium (human) PMID:22911672|REF_RGD_ID:10402176 12425788 HOXB7 homeobox B7 gene DOID:630 genetic disease ISO RGD:1349103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425793 CCK cholecystokinin gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:737505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 12425793 CCK cholecystokinin gene DOID:10808 gastric ulcer ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10422768|PMID:10458643|PMID:11025360|PMID:11787760|PMID:15024038|PMID:9872509 12425793 CCK cholecystokinin gene DOID:11981 morbid obesity ISO RGD:737505 D RGD:9068941 20200609 RGD protein:decreased expression:plasma:associated with Metabolic Syndrome X (MeSH:D024821) PMID:17443025|REF_RGD_ID:1625798 12425793 CCK cholecystokinin gene DOID:14330 Parkinson's disease no_association ISO RGD:737505 D RGD:9068941 20200609 RGD PMID:10668930|REF_RGD_ID:1626086 12425793 CCK cholecystokinin gene DOID:3602 toxic encephalopathy ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12425793 CCK cholecystokinin gene DOID:409 liver disease ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12425793 CCK cholecystokinin gene DOID:4989 pancreatitis ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16187300|PMID:16499907 12425793 CCK cholecystokinin gene DOID:630 genetic disease ISO RGD:737505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425793 CCK cholecystokinin gene DOID:77 gastrointestinal system disease ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7481522 12425793 CCK cholecystokinin gene DOID:83 cataract ISO RGD:2288 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16989746|REF_RGD_ID:2313636 12425793 CCK cholecystokinin gene DOID:9000641 Pain ISO RGD:2288 D RGD:9068941 20200609 RGD PMID:17157334|REF_RGD_ID:2313635 12425793 CCK cholecystokinin gene DOID:9000972 Fever ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27565679 12425793 CCK cholecystokinin gene DOID:9001109 Anorexia ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22903826|PMID:24385417 12425793 CCK cholecystokinin gene DOID:9002211 Hyperalgesia ISO RGD:2288 D RGD:9068941 20200609 RGD PMID:15647484|REF_RGD_ID:1626108 12425793 CCK cholecystokinin gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27565679 12425793 CCK cholecystokinin gene DOID:9002362 Hyperkinesis ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3561887|PMID:3735805 12425793 CCK cholecystokinin gene DOID:9003126 Hallucinations ISO RGD:737505 D RGD:9068941 20200609 RGD associated with Parkinson Disease;DNA:polymorphism, haplogype:promoter:-45C>T (human) PMID:12777967|REF_RGD_ID:1625802 12425793 CCK cholecystokinin gene DOID:9003805 Catalepsy ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2862602|PMID:4040614 12425793 CCK cholecystokinin gene DOID:9004099 Bulimia ISO RGD:737505 D RGD:9068941 20200609 RGD protein:decreased expression:blood:decreased postprandial release PMID:8988922|REF_RGD_ID:1625799 12425793 CCK cholecystokinin gene DOID:9005372 Inflammation ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14599722 12425793 CCK cholecystokinin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2288 D RGD:9068941 20200609 RGD PMID:15536283|REF_RGD_ID:2313638 12425793 CCK cholecystokinin gene DOID:9006113 Gallstones ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1631261 12425793 CCK cholecystokinin gene DOID:9006646 Metabolic Syndrome ISO RGD:737505 D RGD:9068941 20200609 RGD protein:decreased expression:plasma:associated with Obesity, Morbid (MeSH:D009767) PMID:17443025|REF_RGD_ID:1625798 12425793 CCK cholecystokinin gene DOID:9007650 Unconsciousness ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6281507 12425793 CCK cholecystokinin gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2320253 12425819 HEPACAM2 HEPACAM family member 2 gene DOID:10283 prostate cancer ISO RGD:1602173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12425819 HEPACAM2 HEPACAM family member 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12425819 HEPACAM2 HEPACAM family member 2 gene DOID:630 genetic disease ISO RGD:1602173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425840 SLC9A9 solute carrier family 9 member A9 gene DOID:0060041 autism spectrum disorder ISO RGD:1314948 D RGD:9068941 20220825 MouseDO 12425840 SLC9A9 solute carrier family 9 member A9 gene DOID:12849 autistic disorder ISO RGD:1314947 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, 16 PMID:18621663|PMID:25741868|PMID:30927234 12425840 SLC9A9 solute carrier family 9 member A9 gene DOID:12849 autistic disorder susceptibility ISO RGD:1314947 D RGD:7240710 20190502 OMIM 12425840 SLC9A9 solute carrier family 9 member A9 gene DOID:630 genetic disease ISO RGD:1314947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425840 SLC9A9 solute carrier family 9 member A9 gene DOID:9256 colorectal cancer ISO RGD:1314947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 12425861 SLC7A13 solute carrier family 7 member 13 gene DOID:630 genetic disease ISO RGD:1323193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12425869 ZNF268 zinc finger protein 268 gene DOID:630 genetic disease ISO RGD:1347350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425909 CCDC200 coiled-coil domain containing 200 gene DOID:0080600 COVID-19 ISO RGD:6769766 D RGD:9068941 20210115 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12425919 MIR489 microRNA mir-489 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12425919 MIR489 microRNA mir-489 gene DOID:9008939 Breast Neoplasms ISO RGD:1603780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 12425979 MSX2 msh homeobox 2 gene DOID:0060285 parietal foramina ISO RGD:735997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranium bifidum occultum PMID:10742103|PMID:10742104|PMID:10767351|PMID:14571277|PMID:16319823|PMID:18786927|PMID:20301307|PMID:22948472|PMID:23918290|PMID:23949913|PMID:24666290|PMID:25741868|PMID:27013732|PMID:27884935|PMID:28492532|PMID:28808027|PMID:7597092|PMID:8106171|PMID:8357019|PMID:8968743|PMID:9256341 12425979 MSX2 msh homeobox 2 gene DOID:10763 hypertension ISO RGD:3116 D RGD:9068941 20200609 RGD PMID:18270471|REF_RGD_ID:5132616 12425979 MSX2 msh homeobox 2 gene DOID:2340 craniosynostosis ISO RGD:10921 D RGD:9068941 20220825 MouseDO OMIM:123100 | OMIM:182212 | OMIM:600593 | OMIM:600775 | OMIM:604757 | OMIM:615314 | OMIM:615529 12425979 MSX2 msh homeobox 2 gene DOID:2340 craniosynostosis ISO RGD:735997 D RGD:9068941 20200609 RGD craniosynostosis type 2, OMIM:604757, DNA:point mutation:exon:P148H PMID:8968743|REF_RGD_ID:1600491 12425979 MSX2 msh homeobox 2 gene DOID:630 genetic disease ISO RGD:735997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12425979 MSX2 msh homeobox 2 gene DOID:9002739 Female Urogenital Diseases ISO RGD:735997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16513791 12425979 MSX2 msh homeobox 2 gene DOID:9004512 Craniosynostosis 2 ISO RGD:735997 D RGD:7240710 20180130 OMIM 12425979 MSX2 msh homeobox 2 gene DOID:9004512 Craniosynostosis 2 ISO RGD:735997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniosynostosis 2 PMID:16319823|PMID:18786927|PMID:20301307|PMID:23918290|PMID:23949913|PMID:25741868|PMID:27013732|PMID:28492532|PMID:28808027|PMID:7597092|PMID:8106171|PMID:8357019|PMID:8968743|PMID:9256341 12425979 MSX2 msh homeobox 2 gene DOID:9004888 Parietal Foramina 1 ISO RGD:735997 D RGD:7240710 20190327 OMIM 12425979 MSX2 msh homeobox 2 gene DOID:9004888 Parietal Foramina 1 ISO RGD:735997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parietal foramina 1 PMID:10742103|PMID:10767351|PMID:16222674|PMID:25741868|PMID:28492532 12425979 MSX2 msh homeobox 2 gene DOID:9005263 Parietal Foramina with Cleidocranial Dysplasia ISO RGD:735997 D RGD:7240710 20180130 OMIM 12425979 MSX2 msh homeobox 2 gene DOID:9005263 Parietal Foramina with Cleidocranial Dysplasia ISO RGD:735997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia PMID:14571277 12425979 MSX2 msh homeobox 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:735997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome 12425979 MSX2 msh homeobox 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9147639 12425979 MSX2 msh homeobox 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735997 D RGD:9068941 20200609 RGD parietal foramina, OMIM:168500, DNA:point mutation:exon: R172H, DNA:deletions PMID:10742103|REF_RGD_ID:1600492 12425979 MSX2 msh homeobox 2 gene DOID:9008763 Femoral Fractures ISO RGD:3116 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:bone, osteoblast, chondrocyte PMID:16451220|REF_RGD_ID:5132608 12425983 TCF19 transcription factor 19 gene DOID:0050553 JMP syndrome ISO RGD:1345711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12425983 TCF19 transcription factor 19 gene DOID:10003 sensorineural hearing loss ISO RGD:1345711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 12425983 TCF19 transcription factor 19 gene DOID:11372 megacolon ISO RGD:1345711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12425983 TCF19 transcription factor 19 gene DOID:630 genetic disease ISO RGD:1345711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12425983 TCF19 transcription factor 19 gene DOID:684 hepatocellular carcinoma ISO RGD:1345711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12425983 TCF19 transcription factor 19 gene DOID:9002928 Colonic Neoplasms ISO RGD:1345711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12425991 SLC7A2 solute carrier family 7 member 2 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:68562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 12425991 SLC7A2 solute carrier family 7 member 2 gene DOID:2661 myoepithelioma ISO RGD:68562 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12425991 SLC7A2 solute carrier family 7 member 2 gene DOID:630 genetic disease ISO RGD:68562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426010 EFR3B EFR3 homolog B gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1602224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 12426010 EFR3B EFR3 homolog B gene DOID:630 genetic disease ISO RGD:1602224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426043 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1319736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:17576681|PMID:25741868|PMID:28492532|PMID:33097395|PMID:9536098 12426043 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1319736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 12426043 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:0080855 Parkinsonism ISO RGD:1309406 D RGD:9068941 20200609 RGD PMID:20403401|REF_RGD_ID:13824972 12426043 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1319736 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:17576681|PMID:25741868|PMID:28492532|PMID:33097395|PMID:9536098 12426043 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:0112081 nuclear type mitochondrial complex I deficiency 8 ISO RGD:1319736 D RGD:7240710 20190315 OMIM 12426043 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:0112081 nuclear type mitochondrial complex I deficiency 8 ISO RGD:1319736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 PMID:14729820|PMID:17576681|PMID:22499348|PMID:25741868|PMID:28492532|PMID:30140060|PMID:33097395|PMID:9536098 12426043 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:1059 intellectual disability ISO RGD:1319736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12426043 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:10652 Alzheimer's disease onset ISO RGD:1319736 D RGD:9068941 20200609 RGD PMID:28242297|REF_RGD_ID:13824970 12426043 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:3652 Leigh disease ISO RGD:1319736 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:33097395|PMID:9536098 12426043 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:5723 optic atrophy ISO RGD:1319736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14729820 12426043 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:630 genetic disease ISO RGD:1319736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12426043 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1319736 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:33097395|PMID:9536098 12426043 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1309406 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:kidney,glomerulus PMID:22903132|REF_RGD_ID:8552684 12426043 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:1309406 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22591908|REF_RGD_ID:13792578 12426043 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9003936 Cardiomegaly ISO RGD:1309406 D RGD:9068941 20200609 RGD PMID:24388463|REF_RGD_ID:7800726 12426043 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309406 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain PMID:22387129|REF_RGD_ID:13824971 12426043 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309406 D RGD:9068941 20200609 RGD protein:decreased expression:dorsal root ganglia (rat) PMID:20876714|REF_RGD_ID:6484699 12426043 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1319736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12426043 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9008939 Breast Neoplasms ISO RGD:1319736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 12426054 FBN1 fibrillin 1 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:10766875|PMID:11175294|PMID:16596670|PMID:1729284|PMID:17324963|PMID:21784848|PMID:24199744|PMID:26796135|PMID:27914124|PMID:28492532|PMID:7611299|PMID:8880577|PMID:8882780 12426054 FBN1 fibrillin 1 gene DOID:0050473 Alstrom syndrome ISO RGD:731577 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Alstrom's syndrome PMID:17657824|PMID:19293843|PMID:25741868|PMID:28492532 12426054 FBN1 fibrillin 1 gene DOID:0050475 Weill-Marchesani syndrome ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome PMID:10189222|PMID:10198291|PMID:10464652|PMID:10533071|PMID:10633129|PMID:10679954|PMID:10694921|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12525539|PMID:12651868|PMID:12938084|PMID:14598350|PMID:14695540|PMID:15241795|PMID:15598221|PMID:16061422|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16571647|PMID:16835936|PMID:17253931|PMID:17418587|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17701892|PMID:18435798|PMID:19012347|PMID:19059503|PMID:19161152|PMID:19293843|PMID:19370756|PMID:19396033|PMID:19839986|PMID:20200614|PMID:20301510|PMID:20375004|PMID:20591885|PMID:20979188|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21883168|PMID:21895641|PMID:22772377|PMID:23133647|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23897642|PMID:24033266|PMID:24039054|PMID:24055113|PMID:24311428|PMID:24564502|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25101912|PMID:25203624|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25637381|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25944730|PMID:25979247|PMID:26026792|PMID:26188975|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26621581|PMID:26684006|PMID:26764160|PMID:26787436|PMID:26875674|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27274304|PMID:27582083|PMID:27906200|PMID:27959697|PMID:28254189|PMID:28492532|PMID:28550590|PMID:28650953|PMID:28655553|PMID:29168297|PMID:29357934|PMID:29543232|PMID:29907982|PMID:31008308|PMID:31211626|PMID:31227806|PMID:31322791|PMID:31506931|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32938213|PMID:3536967|PMID:7738200|PMID:7870075|PMID:8281141|PMID:8430317|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8941093|PMID:8988160|PMID:9150726|PMID:9338588|PMID:9399842|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 12426054 FBN1 fibrillin 1 gene DOID:0050851 glomerulosclerosis ISO RGD:731578 D RGD:9068941 20200609 RGD associated with Hypertension PMID:16380460|REF_RGD_ID:7365080 12426054 FBN1 fibrillin 1 gene DOID:0060218 CREST syndrome ISO RGD:731577 D RGD:9068941 20200609 RGD PMID:10395706|REF_RGD_ID:12910471 12426054 FBN1 fibrillin 1 gene DOID:0060249 scoliosis ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital scoliosis | ClinVar Annotator: match by term: Scoliosis PMID:10464652|PMID:11700157|PMID:11933199|PMID:12203987|PMID:12203992|PMID:12938084|PMID:14695540|PMID:15241795|PMID:17627385|PMID:17657824|PMID:19159394|PMID:19293843|PMID:20301510|PMID:21907952|PMID:24033266|PMID:24161884|PMID:24833718|PMID:25741868|PMID:25907466|PMID:26333736|PMID:26787436|PMID:27146836|PMID:27274304|PMID:27611364|PMID:27724990|PMID:28492532|PMID:28855619|PMID:29357934|PMID:30311386|PMID:30675029|PMID:30739908|PMID:31098894|PMID:31211626|PMID:31751304|PMID:31950671|PMID:32679894|PMID:34498425 12426054 FBN1 fibrillin 1 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10647894|PMID:10756346|PMID:10874320|PMID:10942427|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11826022|PMID:11880731|PMID:11933199|PMID:11967553|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12700307|PMID:12938084|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15161917|PMID:15241795|PMID:15583982|PMID:1569206|PMID:15733436|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16677079|PMID:16756980|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19446531|PMID:19533785|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20564469|PMID:20886638|PMID:21034599|PMID:21332468|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22262941|PMID:22393277|PMID:22539873|PMID:22772377|PMID:22913777|PMID:23684891|PMID:23719250|PMID:23744319|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24635535|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25525159|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26272055|PMID:26333736|PMID:26621581|PMID:26770496|PMID:26787436|PMID:26899731|PMID:27112580|PMID:27146836|PMID:27175573|PMID:27234404|PMID:27353645|PMID:27611364|PMID:27724990|PMID:27906200|PMID:28117189|PMID:28391405|PMID:28492532|PMID:28539832|PMID:28650953|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29543232|PMID:29848614|PMID:29907982|PMID:30341550|PMID:30371227|PMID:30675029|PMID:30739908|PMID:31098894|PMID:31211624|PMID:31211626|PMID:31751304|PMID:31830381|PMID:32679894|PMID:33483584|PMID:33711475|PMID:34498425|PMID:3495735|PMID:4750422|PMID:7611299|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8406497|PMID:8541880|PMID:8791520|PMID:8894692|PMID:8941093|PMID:9241263|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9536098|PMID:9837823 12426054 FBN1 fibrillin 1 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:731577 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10647894|PMID:10756346|PMID:10874320|PMID:10942427|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11826022|PMID:11880731|PMID:11933199|PMID:11967553|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12700307|PMID:12938084|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15583982|PMID:1569206|PMID:15733436|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16756980|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19446531|PMID:19533785|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20564469|PMID:20886638|PMID:21034599|PMID:21332468|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22262941|PMID:22393277|PMID:22539873|PMID:22772377|PMID:22913777|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24635535|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25525159|PMID:25652356|PMID:25656438|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26272055|PMID:26333736|PMID:26621581|PMID:26770496|PMID:26787436|PMID:26899731|PMID:27112580|PMID:27146836|PMID:27175573|PMID:27353645|PMID:27611364|PMID:27724990|PMID:27906200|PMID:28117189|PMID:28391405|PMID:28492532|PMID:28539832|PMID:28650953|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29543232|PMID:29848614|PMID:29907982|PMID:30192042|PMID:30341550|PMID:30371227|PMID:30675029|PMID:30739908|PMID:31098894|PMID:31211624|PMID:31211626|PMID:31751304|PMID:31830381|PMID:32679894|PMID:33483584|PMID:33711475|PMID:34456093|PMID:34498425|PMID:7611299|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8406497|PMID:8541880|PMID:8791520|PMID:8894692|PMID:8941093|PMID:9241263|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9536098|PMID:9837823 12426054 FBN1 fibrillin 1 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:731577 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10647894|PMID:10756346|PMID:10874320|PMID:10942427|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15583982|PMID:1569206|PMID:15733436|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16756980|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20564469|PMID:20591885|PMID:20886638|PMID:21034599|PMID:21332468|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22262941|PMID:22393277|PMID:22539873|PMID:22772377|PMID:22913777|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24635535|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25525159|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26272055|PMID:26333736|PMID:26410935|PMID:26621581|PMID:26770496|PMID:26787436|PMID:26899731|PMID:27112580|PMID:27146836|PMID:27175573|PMID:27353645|PMID:27611364|PMID:27724990|PMID:27906200|PMID:28117189|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28650953|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29543232|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30192042|PMID:30341550|PMID:30371227|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31098894|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31536524|PMID:31730815|PMID:31751304|PMID:31825148|PMID:31830381|PMID:32679894|PMID:32989268|PMID:33200202|PMID:33483584|PMID:33711475|PMID:34150014|PMID:34456093|PMID:34498425|PMID:34550612|PMID:35237611|PMID:4750422|PMID:7611299|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8406497|PMID:8541880|PMID:8791520|PMID:8894692|PMID:8941093|PMID:9241263|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9536098|PMID:9837823 12426054 FBN1 fibrillin 1 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:731577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10647894|PMID:10756346|PMID:10874320|PMID:10942427|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15583982|PMID:1569206|PMID:15733436|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16756980|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:20564469|PMID:20591885|PMID:20886638|PMID:21034599|PMID:21332468|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22262941|PMID:22393277|PMID:22539873|PMID:22772377|PMID:22913777|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24635535|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25525159|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26272055|PMID:26333736|PMID:26410935|PMID:26621581|PMID:26770496|PMID:26787436|PMID:26899731|PMID:27112580|PMID:27146836|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27611364|PMID:27724990|PMID:27906200|PMID:28117189|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28642162|PMID:28650953|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29543232|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30341550|PMID:30371227|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31098894|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31536524|PMID:31730815|PMID:31751304|PMID:31825148|PMID:31830381|PMID:31950671|PMID:32679894|PMID:32989268|PMID:33200202|PMID:33483584|PMID:33711475|PMID:34150014|PMID:34456093|PMID:34498425|PMID:34550612|PMID:35237611|PMID:4750422|PMID:7611299|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8406497|PMID:8541880|PMID:8791520|PMID:8894692|PMID:8941093|PMID:9241263|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9536098|PMID:9837823 12426054 FBN1 fibrillin 1 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:731577 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10647894|PMID:10756346|PMID:10874320|PMID:10942427|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15583982|PMID:1569206|PMID:15733436|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16756980|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:20564469|PMID:20591885|PMID:20886638|PMID:21034599|PMID:21332468|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22262941|PMID:22393277|PMID:22539873|PMID:22772377|PMID:22913777|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24635535|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25525159|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26272055|PMID:26333736|PMID:26410935|PMID:26621581|PMID:26770496|PMID:26787436|PMID:26899731|PMID:27112580|PMID:27146836|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27611364|PMID:27724990|PMID:27906200|PMID:28117189|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28642162|PMID:28650953|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29543232|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30341550|PMID:30371227|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31098894|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31536524|PMID:31730815|PMID:31751304|PMID:31825148|PMID:31830381|PMID:31950671|PMID:32679894|PMID:32989268|PMID:33200202|PMID:33483584|PMID:33711475|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34456093|PMID:34498425|PMID:34550612|PMID:35237611|PMID:4750422|PMID:7611299|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8406497|PMID:8541880|PMID:8791520|PMID:8894692|PMID:8941093|PMID:9241263|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9536098|PMID:9837823 12426054 FBN1 fibrillin 1 gene DOID:0080685 aortic dissection ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute aortic dissection | ClinVar Annotator: match by term: Aortic dissection PMID:10633129|PMID:11143906|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11933199|PMID:12203987|PMID:12446365|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15241795|PMID:16222657|PMID:16971892|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17679947|PMID:18087243|PMID:18435798|PMID:18615205|PMID:19089573|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19618372|PMID:19839986|PMID:19863550|PMID:20082464|PMID:21542060|PMID:21895641|PMID:21932315|PMID:22772377|PMID:23506379|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24793577|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25637381|PMID:25741868|PMID:25812041|PMID:25907466|PMID:25944730|PMID:26272055|PMID:26621581|PMID:26787436|PMID:27112580|PMID:27153395|PMID:27582083|PMID:28492532|PMID:28655553|PMID:28659821|PMID:29357934|PMID:29543232|PMID:30371227|PMID:31227806|PMID:8040326|PMID:8541880|PMID:8791520|PMID:9399842|PMID:9401003|PMID:9452085 12426054 FBN1 fibrillin 1 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731577 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:19012347|PMID:19159394|PMID:25741868|PMID:27611364|PMID:28973303 12426054 FBN1 fibrillin 1 gene DOID:0111148 isolated ectopia lentis ISO RGD:731577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial ectopia lentis PMID:11700157|PMID:11826022|PMID:12203987|PMID:12203992|PMID:12446365|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15980072|PMID:16342915|PMID:16765689|PMID:16971892|PMID:17242066|PMID:17657824|PMID:17679947|PMID:17701892|PMID:18079676|PMID:18087243|PMID:18615205|PMID:19293843|PMID:19353630|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20699357|PMID:21895641|PMID:22772377|PMID:22950452|PMID:24033266|PMID:24161884|PMID:25053872|PMID:25741868|PMID:25944730|PMID:27274304|PMID:27611364|PMID:28492532|PMID:29357934|PMID:30675029|PMID:30838813|PMID:31950671|PMID:32123317|PMID:32404357|PMID:32679894|PMID:34281902|PMID:34663891|PMID:34818515|PMID:7802039|PMID:9399842 12426054 FBN1 fibrillin 1 gene DOID:0111150 autosomal dominant isolated ectopia lentis 1 ISO RGD:731577 D RGD:7240710 20180130 OMIM 12426054 FBN1 fibrillin 1 gene DOID:0111150 autosomal dominant isolated ectopia lentis 1 ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant | ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant PMID:10189222|PMID:10198291|PMID:10229672|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10679954|PMID:10694921|PMID:11068200|PMID:11139245|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11875032|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12938084|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:15880509|PMID:15980072|PMID:15983637|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16571647|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18615205|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22539873|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24311428|PMID:24564502|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26332594|PMID:26333736|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26684006|PMID:26764160|PMID:26787436|PMID:26875674|PMID:27058611|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27959697|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28254189|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31131229|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31322791|PMID:31506931|PMID:31605817|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:33200202|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34008892|PMID:34140103|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:3536967|PMID:7738200|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8136837|PMID:8188302|PMID:8281141|PMID:8430317|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8941093|PMID:8988160|PMID:9150726|PMID:9338581|PMID:9338588|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 12426054 FBN1 fibrillin 1 gene DOID:0111243 acromicric dysplasia ISO RGD:731577 D RGD:7240710 20180130 OMIM 12426054 FBN1 fibrillin 1 gene DOID:0111243 acromicric dysplasia ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Acromicric dysplasia | ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:10189222|PMID:10198291|PMID:10464652|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10679954|PMID:10694921|PMID:11068200|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12938084|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:15880509|PMID:15980072|PMID:16061422|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16571647|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:1852206|PMID:18615205|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20200614|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24311428|PMID:24339047|PMID:24564502|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26332594|PMID:26333736|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26684006|PMID:26764160|PMID:26787436|PMID:26875674|PMID:26928463|PMID:27058611|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28254189|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:33082559|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34008892|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:3536967|PMID:7738200|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8281141|PMID:8430317|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8941093|PMID:8988160|PMID:9150726|PMID:9338581|PMID:9338588|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 12426054 FBN1 fibrillin 1 gene DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 PMID:25741868 12426054 FBN1 fibrillin 1 gene DOID:0111561 stiff skin syndrome ISO RGD:731577 D RGD:7240710 20180130 OMIM 12426054 FBN1 fibrillin 1 gene DOID:0111561 stiff skin syndrome ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:10189222|PMID:10198291|PMID:10464652|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10679954|PMID:10694921|PMID:11068200|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12938084|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:15880509|PMID:15980072|PMID:16061422|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16571647|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:1852208|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20200614|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24311428|PMID:24564502|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26332594|PMID:26333736|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26684006|PMID:26764160|PMID:26787436|PMID:26875674|PMID:27058611|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27959697|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28254189|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31322791|PMID:31506931|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34008892|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:3536967|PMID:7738200|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8281141|PMID:8430317|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8941093|PMID:8988160|PMID:9150726|PMID:9338581|PMID:9338588|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 12426054 FBN1 fibrillin 1 gene DOID:0111724 geleophysic dysplasia ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia PMID:10189222|PMID:10198291|PMID:10464652|PMID:10533071|PMID:10633129|PMID:10694921|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11933199|PMID:11992479|PMID:12161601|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12938084|PMID:14598350|PMID:14695540|PMID:15241795|PMID:15598221|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16571647|PMID:16835936|PMID:17253931|PMID:17418587|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17701892|PMID:18435798|PMID:19012347|PMID:19059503|PMID:19161152|PMID:19293843|PMID:19370756|PMID:19396033|PMID:19839986|PMID:20200614|PMID:20301510|PMID:20375004|PMID:20591885|PMID:20979188|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21883168|PMID:21895641|PMID:23133647|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23897642|PMID:24033266|PMID:24039054|PMID:24055113|PMID:24311428|PMID:24564502|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25101912|PMID:25203624|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25637381|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25944730|PMID:25979247|PMID:26026792|PMID:26188975|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26621581|PMID:26684006|PMID:26764160|PMID:26787436|PMID:26875674|PMID:27146836|PMID:27153395|PMID:27245183|PMID:27274304|PMID:27582083|PMID:27906200|PMID:27959697|PMID:28254189|PMID:28492532|PMID:28497567|PMID:28650953|PMID:28655553|PMID:29168297|PMID:29357934|PMID:29543232|PMID:31008308|PMID:31211626|PMID:31227806|PMID:31322791|PMID:31506931|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32938213|PMID:3536967|PMID:7738200|PMID:7870075|PMID:8281141|PMID:8430317|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8941093|PMID:8988160|PMID:9150726|PMID:9338588|PMID:9399842|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 12426054 FBN1 fibrillin 1 gene DOID:0111726 geleophysic dysplasia 2 ISO RGD:731577 D RGD:7240710 20180130 OMIM 12426054 FBN1 fibrillin 1 gene DOID:0111726 geleophysic dysplasia 2 ISO RGD:731577 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:10464652|PMID:10533071|PMID:10612827|PMID:10633129|PMID:11068200|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15880509|PMID:15980072|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16571647|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:1852206|PMID:18615205|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20699357|PMID:20886638|PMID:21542060|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23608731|PMID:23684891|PMID:23719250|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25142510|PMID:25326635|PMID:25504618|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26333736|PMID:26380986|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26787436|PMID:26875674|PMID:27058611|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27245183|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32730690|PMID:32939518|PMID:33082559|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34008892|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8541880|PMID:8653794|PMID:8723076|PMID:8791520|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9536098|PMID:9837823 12426054 FBN1 fibrillin 1 gene DOID:10487 Hirschsprung's disease ISO RGD:731577 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:26559152|PMID:28492532 12426054 FBN1 fibrillin 1 gene DOID:10573 osteomalacia ISO RGD:731578 D RGD:9068941 20200609 RGD protein:increased expression:cortical bone, trabecular bone (mouse) PMID:11159866|REF_RGD_ID:7794797 12426054 FBN1 fibrillin 1 gene DOID:10763 hypertension ISO RGD:620908 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus (rat) PMID:16380460|REF_RGD_ID:7365080 12426054 FBN1 fibrillin 1 gene DOID:11111 hydronephrosis ISO RGD:731578 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction; protein:altered expression:kidney (mouse) PMID:15277214|REF_RGD_ID:7387264 12426054 FBN1 fibrillin 1 gene DOID:11364 lens subluxation ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lens subluxation PMID:10633129|PMID:11143906|PMID:11700157|PMID:11826022|PMID:12203987|PMID:12446365|PMID:12938084|PMID:15054843|PMID:15241795|PMID:16971892|PMID:17657824|PMID:17679947|PMID:18087243|PMID:18615205|PMID:19089573|PMID:19293843|PMID:19328768|PMID:19839986|PMID:21895641|PMID:21932315|PMID:22772377|PMID:24161884|PMID:24199744|PMID:25053872|PMID:25741868|PMID:28492532|PMID:8040326|PMID:8541880|PMID:8791520|PMID:9399842|PMID:9401003|PMID:9452085 12426054 FBN1 fibrillin 1 gene DOID:114 heart disease ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac disease PMID:25741868 12426054 FBN1 fibrillin 1 gene DOID:11476 osteoporosis ISO RGD:731577 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:25741868 12426054 FBN1 fibrillin 1 gene DOID:11502 mitral valve insufficiency ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitral regurgitation PMID:16571647|PMID:16905551|PMID:17657824|PMID:17701892|PMID:19293843|PMID:19349279|PMID:25741868|PMID:28492532 12426054 FBN1 fibrillin 1 gene DOID:11830 myopia ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868 12426054 FBN1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11278305|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15821637|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16677079|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:1765782|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18310266|PMID:18435798|PMID:18471089|PMID:1852208|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19390640|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301500|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20979188|PMID:21135753|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24311428|PMID:24564502|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26410935|PMID:26498160|PMID:26621581|PMID:26684006|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27011056|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27353645|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28254189|PMID:28301460|PMID:28333917|PMID:28387797|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29907982|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:31008308|PMID:31053375|PMID:31098894|PMID:31163209|PMID:31211626|PMID:31227806|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31837199|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221 12426054 FBN1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:33436942|PMID:33711475|PMID:33735269|PMID:34008892|PMID:34498425|PMID:3495735|PMID:3536967|PMID:4750422|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:8004112|PMID:8040326|PMID:8136837|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 12426054 FBN1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10441597|PMID:10464652|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15821637|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18310266|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20979188|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22539873|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24311428|PMID:24564502|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26498160|PMID:26621581|PMID:26684006|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27087445|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27353645|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28611029|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29907982|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:31008308|PMID:31053375|PMID:31098894|PMID:31163209|PMID:31211626|PMID:31227806|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31589614|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31837199|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221|PMID:33436942|PMID:33483584|PMID:33711475|PMID:33735269|PMID:34008892|PMID:34498425|PMID:3536967|PMID:7611299|PMID:7738200|PMID:7762551 12426054 FBN1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:8004112|PMID:8040326|PMID:8136837|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 12426054 FBN1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10441597|PMID:10464652|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15821637|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18310266|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20979188|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22539873|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24311428|PMID:24564502|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26498160|PMID:26621581|PMID:26684006|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27087445|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27353645|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28611029|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29907982|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:31008308|PMID:31020005|PMID:31053375|PMID:31098894|PMID:31163209|PMID:31211626|PMID:31227806|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31589614|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31837199|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221|PMID:33436942|PMID:33483584|PMID:33711475|PMID:33735269|PMID:34008892|PMID:34498425|PMID:3536967 12426054 FBN1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:35535697|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:8004112|PMID:8040326|PMID:8136837|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 12426054 FBN1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10441597|PMID:10464652|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15821637|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18310266|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20979188|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22539873|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24311428|PMID:24564502|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26498160|PMID:26621581|PMID:26684006|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27087445|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28611029|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29907982|PMID:30192042|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:31008308|PMID:31020005|PMID:31053375|PMID:31098894|PMID:31163209|PMID:31211626|PMID:31227806|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31589614|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31837199|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221|PMID:33436942|PMID:33483584|PMID:33711475 12426054 FBN1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:33735269|PMID:34008892|PMID:34498425|PMID:3536967|PMID:35535697|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:8004112|PMID:8040326|PMID:8136837|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 12426054 FBN1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10198291|PMID:10229672|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11071382|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:1438159|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15821637|PMID:15880509|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21332468|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22001912|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22438950|PMID:22539873|PMID:22772377|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23142374|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24501682|PMID:24504995|PMID:24564502|PMID:24568996|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26040324|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26410935|PMID:26498160|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26899731|PMID:26928463|PMID:27058611|PMID:27087445|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27558095|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28152038|PMID:28166811|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590 12426054 FBN1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30019023|PMID:30087447|PMID:30115950|PMID:30192042|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30485715|PMID:30513137|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31708711|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31825148|PMID:31830381|PMID:31837199|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32431097|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:32989268|PMID:33059708|PMID:33174221|PMID:33200202|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34150014|PMID:34498425|PMID:34550612|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:7606779|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8136837|PMID:8188302|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 12426054 FBN1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10198291|PMID:10229672|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11071382|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:1438159|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15821637|PMID:15880509|PMID:15980072|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18435798|PMID:18471089|PMID:1852208|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19390640|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21135753|PMID:21270786|PMID:21332468|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22001912|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22438950|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22876116|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23142374|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24501682|PMID:24504995|PMID:24564502|PMID:24568996|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25974703|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26040324|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26410935|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26899731|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27558095|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697 12426054 FBN1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28152038|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28333917|PMID:28387797|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30019023|PMID:30056620|PMID:30057829|PMID:30087447|PMID:30115950|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30485715|PMID:30513137|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31471346|PMID:31506931|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31708711|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31774634|PMID:31825148|PMID:31830381|PMID:31837199|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:32989268|PMID:33030311|PMID:33059708|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33282382|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34818515|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:7606779|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8136837|PMID:8188302|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 12426054 FBN1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10198291|PMID:10229672|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11071382|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:1438159|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15821637|PMID:15880509|PMID:15980072|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18435798|PMID:18471089|PMID:1852208|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19390640|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21135753|PMID:21332468|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22001912|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22438950|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22876116|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23142374|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24501682|PMID:24504995|PMID:24564502|PMID:24568996|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26040324|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26410935|PMID:26423924|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26899731|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27558095|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697 12426054 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:7240710 20180130 OMIM 12426054 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:10090557|PMID:10189222|PMID:10364683|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:10930463|PMID:10942427|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11453977|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11706995|PMID:11710961|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12130534|PMID:12130535|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12413333|PMID:12446365|PMID:12511552|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15287423|PMID:15583982|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15821637|PMID:15880509|PMID:15980072|PMID:15983637|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:1631074|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17027361|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17366579|PMID:17418587|PMID:17449467|PMID:17492313|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18310266|PMID:18379569|PMID:18412115|PMID:18435798|PMID:1852206|PMID:1852208|PMID:18615205|PMID:18795226|PMID:18925407|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:1929384|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19763152|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20307669|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21063442|PMID:21332468|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22034023|PMID:22140025|PMID:22216297|PMID:22262941|PMID:22393277|PMID:22406018|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24339047|PMID:24501682|PMID:24564502|PMID:24610719|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24759409|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25447171|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25613431|PMID:25636182|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26380986|PMID:26498160|PMID:26621581|PMID:26684006|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27087445|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27245183|PMID:27353645|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27935852 12426054 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28168077|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28391405|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30048161|PMID:30056620|PMID:30087447|PMID:30101859|PMID:30255099|PMID:30286810|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:31008308|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31589614|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31830381|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221|PMID:33436942|PMID:33483584|PMID:33735269|PMID:34008892|PMID:34498425|PMID:3536967|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 12426054 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28168077|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28391405|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30048161|PMID:30056620|PMID:30087447|PMID:30101859|PMID:30255099|PMID:30286810|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:31008308|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31589614|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31830381|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221|PMID:33436942|PMID:33483584|PMID:33735269|PMID:34008892|PMID:34498425|PMID:3536967|PMID:35535697|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 12426054 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:10090557|PMID:10189222|PMID:10364683|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:10930463|PMID:10942427|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11453977|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11706995|PMID:11710961|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12130534|PMID:12130535|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12413333|PMID:12446365|PMID:12511552|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15287423|PMID:15583982|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15821637|PMID:15880509|PMID:15980072|PMID:15983637|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:1631074|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17027361|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17366579|PMID:17418587|PMID:17449467|PMID:17492313|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18310266|PMID:18379569|PMID:18412115|PMID:18435798|PMID:1852206|PMID:1852208|PMID:18615205|PMID:18795226|PMID:18925407|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:1929384|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19763152|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20307669|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21063442|PMID:21194821|PMID:21332468|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22034023|PMID:22140025|PMID:22216297|PMID:22262941|PMID:22393277|PMID:22406018|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24339047|PMID:24501682|PMID:24564502|PMID:24610719|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24759409|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25447171|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25613431|PMID:25636182|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26380986|PMID:26498160|PMID:26621581|PMID:26684006|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27087445|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27245183|PMID:27353645|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701 12426054 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28168077|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28391405|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30048161|PMID:30056620|PMID:30087447|PMID:30101859|PMID:30255099|PMID:30286810|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:31008308|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31589614|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31830381|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221|PMID:33436942|PMID:33483584|PMID:33735269|PMID:34008892|PMID:34498425|PMID:3536967|PMID:35535697|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 12426054 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:27914124|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28168077|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28391405|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30048161|PMID:30056620|PMID:30087447|PMID:30101859|PMID:30192042|PMID:30255099|PMID:30286810|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:31008308|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31589614|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31830381|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221|PMID:33436942|PMID:33483584|PMID:33711475|PMID:33735269|PMID:34008892|PMID:34498425|PMID:3536967|PMID:35535697|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 12426054 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:26928463|PMID:27058611|PMID:27087445|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27245183|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28168077|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30019023|PMID:30048161|PMID:30056620|PMID:30087447|PMID:30101859|PMID:30192042|PMID:30255099|PMID:30286810|PMID:30341550|PMID:30371227|PMID:30485715|PMID:30513137|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31536524|PMID:31589614|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31825148|PMID:31830381|PMID:31950671|PMID:32123317|PMID:32404357|PMID:32431097|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:33059708|PMID:33174221|PMID:33200202|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33711475|PMID:33735269|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34150014|PMID:34498425|PMID:34550612|PMID:34663891|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 12426054 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:10090557|PMID:10189222|PMID:10198291|PMID:10229672|PMID:10364683|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:10930463|PMID:10942427|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11453977|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11706995|PMID:11710961|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12130534|PMID:12130535|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12413333|PMID:12446365|PMID:12511552|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15287423|PMID:15583982|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15821637|PMID:15880509|PMID:15980072|PMID:15983637|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:1631074|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17027361|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17366579|PMID:17418587|PMID:17449467|PMID:17492313|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18379569|PMID:18412115|PMID:18435798|PMID:1852206|PMID:1852208|PMID:18615205|PMID:18795226|PMID:18925407|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:1929384|PMID:19293843|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19763152|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20307669|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21063442|PMID:21194821|PMID:21332468|PMID:21360310|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22034023|PMID:22140025|PMID:22216297|PMID:22262941|PMID:22393277|PMID:22406018|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24339047|PMID:24501682|PMID:24564502|PMID:24568996|PMID:24610719|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24759409|PMID:24793577|PMID:24833718|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25447171|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25613431|PMID:25636182|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26380986|PMID:26410935|PMID:26498160|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674 12426054 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:26928463|PMID:27058611|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27245183|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28168077|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28588436|PMID:28596305|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30019023|PMID:30048161|PMID:30056620|PMID:30087447|PMID:30101859|PMID:30255099|PMID:30286810|PMID:30293248|PMID:30341550|PMID:30371227|PMID:30485715|PMID:30513137|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31825148|PMID:31830381|PMID:31950671|PMID:32123317|PMID:32404357|PMID:32431097|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:33059708|PMID:33174221|PMID:33200202|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33711475|PMID:33735269|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34663891|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 12426054 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:10090557|PMID:10189089|PMID:10189222|PMID:10198291|PMID:10229672|PMID:10364683|PMID:10404462|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:10930463|PMID:10942427|PMID:11059536|PMID:11068200|PMID:11071382|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11453977|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11706995|PMID:11710961|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11810645|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12130534|PMID:12130535|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12413333|PMID:12446365|PMID:12511552|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14586646|PMID:14598350|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15264290|PMID:15287423|PMID:15371449|PMID:15583982|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15770129|PMID:15821637|PMID:15880509|PMID:15980072|PMID:15983637|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16222666|PMID:16273536|PMID:1631074|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17027361|PMID:17209430|PMID:17224687|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17366579|PMID:17418587|PMID:17449467|PMID:17492313|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:17984934|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18379569|PMID:18412115|PMID:18435798|PMID:18471089|PMID:1852206|PMID:1852208|PMID:18615205|PMID:18795226|PMID:18925407|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:1929384|PMID:19293843|PMID:19293848|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19390640|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19763152|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20085885|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20307669|PMID:20375004|PMID:20538085|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20803651|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21063442|PMID:21135753|PMID:21194821|PMID:21332468|PMID:21360310|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22034023|PMID:22140025|PMID:22144684|PMID:2219643|PMID:22216297|PMID:22262941|PMID:22393277|PMID:22406018|PMID:22539340|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22876116|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23141514|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23592911|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24339047|PMID:24501682|PMID:24564502|PMID:24568996|PMID:24610719|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24759409|PMID:24793577|PMID:24833718|PMID:24928929|PMID:24940037|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25447171|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25613431|PMID:25636182|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25646068|PMID:25652356|PMID:25656438|PMID:25729264|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444 12426054 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26221284|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26380986|PMID:26410935|PMID:26498160|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26747767|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27085269|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27245183|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27884935|PMID:27893734|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28168077|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28321935|PMID:28333917|PMID:28387797|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28588436|PMID:28596305|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:2976867|PMID:29848614|PMID:29875124|PMID:29896744|PMID:29907982|PMID:30008475|PMID:30019023|PMID:30048161|PMID:30056620|PMID:30057829|PMID:30076350|PMID:30087447|PMID:30101859|PMID:30115950|PMID:30255099|PMID:30286810|PMID:30293248|PMID:30341550|PMID:30371227|PMID:30431218|PMID:30485715|PMID:30513137|PMID:30534251|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31053350|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31131229|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31471346|PMID:31506931|PMID:31527767|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31825148|PMID:31830381|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32404357|PMID:32406602|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32884772|PMID:32938213|PMID:32939518|PMID:33059708|PMID:33082559|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33665530|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34663891|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:6220557|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9254848|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 12426054 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25974703|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26221284|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26380986|PMID:26410935|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26747767|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27085269|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27245183|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27884935|PMID:27893734|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28168077|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28321935|PMID:28333917|PMID:28387797|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28588436|PMID:28596305|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28842177|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:2976867|PMID:29796325|PMID:29848614|PMID:29850152|PMID:29875124|PMID:29896744|PMID:29907982|PMID:30008475|PMID:30019023|PMID:30048161|PMID:30056620|PMID:30057829|PMID:30076350|PMID:30087447|PMID:30101859|PMID:30115950|PMID:30255099|PMID:30286810|PMID:30293248|PMID:30341550|PMID:30371227|PMID:30431218|PMID:30485715|PMID:30513137|PMID:30534251|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31053350|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31131229|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31471346|PMID:31506931|PMID:31527767|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31774634|PMID:31825148|PMID:31830381|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32404357|PMID:32406602|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32884772|PMID:32938213|PMID:32939518|PMID:33030311|PMID:33059708|PMID:33082559|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33665530|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34663891|PMID:34818515|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:6220557|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9254848|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 12426054 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:10090557|PMID:10189089|PMID:10189222|PMID:10198291|PMID:10229672|PMID:10364683|PMID:10404462|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:10930463|PMID:10942427|PMID:11059536|PMID:11068200|PMID:11071382|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11453977|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11706995|PMID:11710961|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11810645|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12130534|PMID:12130535|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12413333|PMID:12446365|PMID:12511552|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14586646|PMID:14598350|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15264290|PMID:15287423|PMID:15371449|PMID:15583982|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15770129|PMID:15821637|PMID:15880509|PMID:15980072|PMID:15983637|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16222666|PMID:16273536|PMID:1631074|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17027361|PMID:17209430|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17366579|PMID:17418587|PMID:17449467|PMID:17492313|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:17984934|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18379569|PMID:18412115|PMID:18435798|PMID:18471089|PMID:1852206|PMID:1852208|PMID:18615205|PMID:18795226|PMID:18925407|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:1929384|PMID:19293843|PMID:19293848|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19390640|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19763152|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20085885|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20307669|PMID:20375004|PMID:20538085|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20803651|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21063442|PMID:21135753|PMID:21194821|PMID:21332468|PMID:21360310|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22034023|PMID:22140025|PMID:22144684|PMID:2219643|PMID:22216297|PMID:22262941|PMID:22393277|PMID:22406018|PMID:22539340|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22876116|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23141514|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23592911|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24339047|PMID:24501682|PMID:24564502|PMID:24568996|PMID:24610719|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24759409|PMID:24793577|PMID:24833718|PMID:24928929|PMID:24940037|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25447171|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25613431|PMID:25636182|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25646068|PMID:25652356|PMID:25656438|PMID:25729264|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328 12426054 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26221284|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26380986|PMID:26410935|PMID:26423924|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26747767|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27085269|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27245183|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27884935|PMID:27893734|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28168077|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28321935|PMID:28333917|PMID:28387797|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28588436|PMID:28596305|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28842177|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:2976867|PMID:29796325|PMID:29848614|PMID:29850152|PMID:29875124|PMID:29896744|PMID:29907982|PMID:30008475|PMID:30019023|PMID:30048161|PMID:30056620|PMID:30057829|PMID:30076350|PMID:30087447|PMID:30101859|PMID:30115950|PMID:30255099|PMID:30286810|PMID:30293248|PMID:30341550|PMID:30371227|PMID:30431218|PMID:30485715|PMID:30513137|PMID:30534251|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31053350|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31131229|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31471346|PMID:31506931|PMID:31527767|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31774634|PMID:31825148|PMID:31830381|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32404357|PMID:32406602|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32884772|PMID:32938213|PMID:32939518|PMID:32989268|PMID:33030311|PMID:33059708|PMID:33082559|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33282382|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33665530|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34663891|PMID:34818515|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:6220557|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9254848|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 12426054 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome severity ISO RGD:731577 D RGD:9068941 20200609 RGD PMID:26787436|REF_RGD_ID:12910485 12426054 FBN1 fibrillin 1 gene DOID:14323 Marfan syndrome treatment ISO RGD:731577 D RGD:9068941 20200609 RGD PMID:25613431|REF_RGD_ID:12910135 12426054 FBN1 fibrillin 1 gene DOID:1909 melanoma ISO RGD:731577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Melanoma PMID:10533071|PMID:10874320|PMID:11700157|PMID:12402346|PMID:12938084|PMID:14695540|PMID:16220557|PMID:16222657|PMID:16835936|PMID:17253931|PMID:17576681|PMID:17657824|PMID:17663468|PMID:19159394|PMID:19293843|PMID:21542060|PMID:24033266|PMID:24161884|PMID:25741868|PMID:26133393|PMID:28492532|PMID:29357934|PMID:31098894|PMID:7611299|PMID:8894692|PMID:9401003|PMID:9536098 12426054 FBN1 fibrillin 1 gene DOID:2018 hyperinsulinism ISO RGD:731577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20836762 12426054 FBN1 fibrillin 1 gene DOID:2340 craniosynostosis ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis PMID:25741868|PMID:31837199 12426054 FBN1 fibrillin 1 gene DOID:2717 Bloom syndrome ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12426054 FBN1 fibrillin 1 gene DOID:289 endometriosis ISO RGD:731577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 12426054 FBN1 fibrillin 1 gene DOID:2921 glomerulonephritis ISO RGD:620908 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:renal glomerulus (rat) PMID:16282705|REF_RGD_ID:7387262 12426054 FBN1 fibrillin 1 gene DOID:2921 glomerulonephritis ISO RGD:620908 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex, renal glomerulus (rat) PMID:16395273|REF_RGD_ID:7365077 12426054 FBN1 fibrillin 1 gene DOID:3492 mixed connective tissue disease ISO RGD:731577 D RGD:9068941 20200609 RGD PMID:10395706|REF_RGD_ID:12910471 12426054 FBN1 fibrillin 1 gene DOID:3526 cerebral infarction ISO RGD:731577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ischemic stroke PMID:10533071|PMID:10874320|PMID:11700157|PMID:12402346|PMID:12938084|PMID:14695540|PMID:16220557|PMID:16222657|PMID:16835936|PMID:17253931|PMID:17576681|PMID:17657824|PMID:17663468|PMID:19159394|PMID:19293843|PMID:21542060|PMID:24033266|PMID:24161884|PMID:25741868|PMID:26133393|PMID:28492532|PMID:29357934|PMID:31098894|PMID:7611299|PMID:8894692|PMID:9401003|PMID:9536098 12426054 FBN1 fibrillin 1 gene DOID:3627 aortic aneurysm ISO RGD:731577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ascending aortic dilation PMID:10464652|PMID:11700157|PMID:11933199|PMID:12203987|PMID:12203992|PMID:12938084|PMID:14695540|PMID:15241795|PMID:17627385|PMID:17657824|PMID:19159394|PMID:19293843|PMID:20301510|PMID:21907952|PMID:24033266|PMID:24161884|PMID:24833718|PMID:25741868|PMID:25907466|PMID:26333736|PMID:27146836|PMID:27274304|PMID:27611364|PMID:27724990|PMID:28492532|PMID:28855619|PMID:29357934|PMID:30675029|PMID:30739908|PMID:31098894|PMID:31211626|PMID:31751304|PMID:31950671|PMID:32679894|PMID:34498425 12426054 FBN1 fibrillin 1 gene DOID:3627 aortic aneurysm severity ISO RGD:731578 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C1039G (mouse) PMID:24071006|REF_RGD_ID:7365039 12426054 FBN1 fibrillin 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:23806086|PMID:24088041|PMID:25736269 12426054 FBN1 fibrillin 1 gene DOID:418 systemic scleroderma ISO RGD:731577 D RGD:9068941 20200609 RGD PMID:10395706|REF_RGD_ID:12910471 12426054 FBN1 fibrillin 1 gene DOID:418 systemic scleroderma ISO RGD:731578 D RGD:9068941 20200609 RGD PMID:11123012|REF_RGD_ID:7387265 12426054 FBN1 fibrillin 1 gene DOID:418 systemic scleroderma ISO RGD:731578 D RGD:9068941 20220825 MouseDO OMIM:181750 12426054 FBN1 fibrillin 1 gene DOID:418 systemic scleroderma susceptibility ISO RGD:731577 D RGD:9068941 20200609 RGD DNA:insertion:5' utr PMID:12384286|REF_RGD_ID:12904889 12426054 FBN1 fibrillin 1 gene DOID:4195 hyperglycemia ISO RGD:731577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20836762 12426054 FBN1 fibrillin 1 gene DOID:423 myopathy ISO RGD:731577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 12426054 FBN1 fibrillin 1 gene DOID:4480 achondroplasia ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Achondroplasia PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:25741868|PMID:28492532|PMID:28855619 12426054 FBN1 fibrillin 1 gene DOID:4783 mesangial proliferative glomerulonephritis ISO RGD:620908 D RGD:9068941 20200609 RGD mRNA:increased expression:cortex of kidney PMID:25482639|REF_RGD_ID:12910487 12426054 FBN1 fibrillin 1 gene DOID:5082 liver cirrhosis ISO RGD:620908 D RGD:9068941 20200609 RGD PMID:14661032|REF_RGD_ID:12910489 12426054 FBN1 fibrillin 1 gene DOID:5082 liver cirrhosis ISO RGD:731577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 12426054 FBN1 fibrillin 1 gene DOID:5199 ureteral obstruction ISO RGD:731578 D RGD:9068941 20200609 RGD protein:increased expression:kidney (mouse) PMID:17200203|REF_RGD_ID:7365047 12426054 FBN1 fibrillin 1 gene DOID:5199 ureteral obstruction treatment ISO RGD:731578 D RGD:9068941 20200609 RGD PMID:17200203|REF_RGD_ID:7365047 12426054 FBN1 fibrillin 1 gene DOID:520 aortic disease ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial aortopathy 12426054 FBN1 fibrillin 1 gene DOID:57 aortic valve insufficiency ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic regurgitation PMID:25741868|PMID:28492532 12426054 FBN1 fibrillin 1 gene DOID:630 genetic disease ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10198291|PMID:11139245|PMID:11700157|PMID:12651868|PMID:14598350|PMID:14695540|PMID:15161917|PMID:15241795|PMID:15598221|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16571647|PMID:16905551|PMID:17253931|PMID:17523150|PMID:17576681|PMID:17657824|PMID:17701892|PMID:18435798|PMID:1852206|PMID:19002209|PMID:19059503|PMID:19159394|PMID:19293843|PMID:19349279|PMID:19396033|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20886638|PMID:20979188|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21895641|PMID:21907952|PMID:22772377|PMID:23133647|PMID:23278365|PMID:23506379|PMID:23608731|PMID:23684891|PMID:23897642|PMID:24033266|PMID:24039054|PMID:24055113|PMID:24199744|PMID:24220124|PMID:24564502|PMID:24635535|PMID:24665001|PMID:24793577|PMID:24941995|PMID:25101912|PMID:25326635|PMID:25637381|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26026792|PMID:26380986|PMID:26764160|PMID:26787436|PMID:26875674|PMID:27112580|PMID:27274304|PMID:27582083|PMID:27935852|PMID:28492532|PMID:28655553|PMID:29357934|PMID:29620724|PMID:31211624|PMID:31227806|PMID:31589614|PMID:31950671|PMID:32679894|PMID:33059708|PMID:3536967|PMID:7738200|PMID:8563763|PMID:8653794|PMID:8941093|PMID:9236141|PMID:9452033|PMID:9536098|PMID:9817919 12426054 FBN1 fibrillin 1 gene DOID:65 connective tissue disease ISO RGD:731577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:10229672|PMID:10464652|PMID:11315929|PMID:11524736|PMID:11826022|PMID:11875032|PMID:11933199|PMID:12161601|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12938084|PMID:16220557|PMID:17253931|PMID:17657824|PMID:17663468|PMID:19293843|PMID:19370756|PMID:19533785|PMID:20200614|PMID:20564469|PMID:20979188|PMID:21683322|PMID:21895641|PMID:21907952|PMID:23608731|PMID:23653584|PMID:24033266|PMID:24035709|PMID:24055113|PMID:24311428|PMID:24793577|PMID:24941995|PMID:25637381|PMID:25652356|PMID:25741868|PMID:25812041|PMID:25839328|PMID:25944730|PMID:26269718|PMID:26332594|PMID:26633542|PMID:26684006|PMID:26787436|PMID:27245183|PMID:27647783|PMID:28254189|PMID:28492532|PMID:28497567|PMID:28650953|PMID:28941062|PMID:29357934|PMID:29848614|PMID:29875124|PMID:31008308|PMID:31098894|PMID:31211626|PMID:31227806|PMID:31322791|PMID:31730815|PMID:32989268|PMID:34150014|PMID:34550612|PMID:35237611|PMID:8136837|PMID:8188302|PMID:8281141|PMID:8430317|PMID:8563763|PMID:8988160|PMID:9150726|PMID:9338588|PMID:9876915 12426054 FBN1 fibrillin 1 gene DOID:83 cataract ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:10533071|PMID:24033266|PMID:24740214|PMID:25203624|PMID:25741868|PMID:28492532 12426054 FBN1 fibrillin 1 gene DOID:9000073 Metaphyseal Chondrodysplasia ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia PMID:21683322|PMID:25741868|PMID:27245183|PMID:28492532 12426054 FBN1 fibrillin 1 gene DOID:9001224 Striae Distensae ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Striae distensae PMID:25741868 12426054 FBN1 fibrillin 1 gene DOID:9001464 Weill-Marchesani Syndrome 2 ISO RGD:731577 D RGD:7240710 20180822 OMIM 12426054 FBN1 fibrillin 1 gene DOID:9001464 Weill-Marchesani Syndrome 2 ISO RGD:731577 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant | ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 PMID:10464652|PMID:10533071|PMID:10612827|PMID:10633129|PMID:11068200|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12525539|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15880509|PMID:15980072|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16571647|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18615205|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20699357|PMID:20886638|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22772377|PMID:22950452|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23608731|PMID:23684891|PMID:23719250|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25326635|PMID:25504618|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26333736|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26787436|PMID:26875674|PMID:27058611|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27959697|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32730690|PMID:32939518|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34008892|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:4750422|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8541880|PMID:8653794|PMID:8723076|PMID:8791520|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9536098|PMID:9837823 12426054 FBN1 fibrillin 1 gene DOID:9001510 Funnel Chest ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:25741868 12426054 FBN1 fibrillin 1 gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:25741868 12426054 FBN1 fibrillin 1 gene DOID:9001542 Albuminuria ISO RGD:731578 D RGD:9068941 20200609 RGD associated with Hypertension PMID:16380460|REF_RGD_ID:7365080 12426054 FBN1 fibrillin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12426054 FBN1 fibrillin 1 gene DOID:9001665 Aneurysm ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aneurysm PMID:25741868 12426054 FBN1 fibrillin 1 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic liver disease 1 12426054 FBN1 fibrillin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:731578 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16380460|REF_RGD_ID:7365080 12426054 FBN1 fibrillin 1 gene DOID:9002165 Diabetic Nephropathies onset ISO RGD:731578 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16395273|REF_RGD_ID:7365077 12426054 FBN1 fibrillin 1 gene DOID:9002189 High Myopia ISO RGD:731577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: High myopia PMID:10464652|PMID:10533071|PMID:10874320|PMID:11700157|PMID:11933199|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12938084|PMID:14695540|PMID:15241795|PMID:16220557|PMID:16222657|PMID:16835936|PMID:17253931|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:19159394|PMID:19293843|PMID:20301510|PMID:21542060|PMID:21907952|PMID:24033266|PMID:24161884|PMID:24833718|PMID:25741868|PMID:25907466|PMID:26133393|PMID:26333736|PMID:27146836|PMID:27274304|PMID:27611364|PMID:27724990|PMID:28492532|PMID:28855619|PMID:29357934|PMID:30675029|PMID:30739908|PMID:31098894|PMID:31211626|PMID:31751304|PMID:31950671|PMID:32679894|PMID:34498425|PMID:7611299|PMID:8894692|PMID:9401003|PMID:9536098 12426054 FBN1 fibrillin 1 gene DOID:9002884 Emphysema ISO RGD:731578 D RGD:9068941 20200609 RGD associated with Marfan Syndrome PMID:12598898|REF_RGD_ID:1300319 12426054 FBN1 fibrillin 1 gene DOID:9003139 Cardiac Fibrosis ISO RGD:620908 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:myocardium PMID:15849235|REF_RGD_ID:1601147 12426054 FBN1 fibrillin 1 gene DOID:9003326 Perrault Syndrome 1 ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perrault syndrome 1 PMID:25741868 12426054 FBN1 fibrillin 1 gene DOID:9004080 Aortic Rupture ISO RGD:731577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18178469 12426054 FBN1 fibrillin 1 gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:731577 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:28539832|PMID:28550590|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30019023|PMID:30056620|PMID:30057829|PMID:30087447|PMID:30115950|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30485715|PMID:30513137|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31471346|PMID:31506931|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31774634|PMID:31825148|PMID:31830381|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:32989268|PMID:33030311|PMID:33059708|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33282382|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34818515|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8071963|PMID:8136837|PMID:8188302|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 12426054 FBN1 fibrillin 1 gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:10189222|PMID:10198291|PMID:10229672|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15821637|PMID:15880509|PMID:15980072|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18435798|PMID:1852208|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19390640|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21135753|PMID:21332468|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22876116|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24296667|PMID:24311428|PMID:24501682|PMID:24564502|PMID:24568996|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26410935|PMID:26423924|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28333917|PMID:28387797|PMID:28468757|PMID:28492532|PMID:28497567 12426054 FBN1 fibrillin 1 gene DOID:9004201 Ectopia Lentis ISO RGD:731577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectopia lentis PMID:10533071|PMID:10633129|PMID:10874320|PMID:11700157|PMID:11992479|PMID:12402346|PMID:12938084|PMID:14695540|PMID:16220557|PMID:16222657|PMID:16835936|PMID:17253931|PMID:17418587|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:19159394|PMID:19293843|PMID:21542060|PMID:21895641|PMID:23577066|PMID:24033266|PMID:24161884|PMID:24793577|PMID:24941995|PMID:25326635|PMID:25504618|PMID:25741868|PMID:25812041|PMID:25852444|PMID:26133393|PMID:26787436|PMID:26875674|PMID:27906200|PMID:27959697|PMID:28492532|PMID:29357934|PMID:29543232|PMID:31098894|PMID:31211626|PMID:31227806|PMID:32123317|PMID:7611299|PMID:7870075|PMID:8653794|PMID:8723076|PMID:8894692|PMID:9399842|PMID:9401003|PMID:9536098|PMID:9837823 12426054 FBN1 fibrillin 1 gene DOID:9004286 Hirschsprung Disease 1 ISO RGD:731577 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hirschsprung disease 1 PMID:25741868|PMID:26559152|PMID:28492532 12426054 FBN1 fibrillin 1 gene DOID:9004665 Pectus Carinatum ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pectus carinatum PMID:25741868 12426054 FBN1 fibrillin 1 gene DOID:9005077 Joint Instability ISO RGD:731577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:10464652|PMID:11700157|PMID:11933199|PMID:12203987|PMID:12203992|PMID:12938084|PMID:14695540|PMID:15241795|PMID:17627385|PMID:17657824|PMID:19159394|PMID:19293843|PMID:20301510|PMID:21907952|PMID:24033266|PMID:24161884|PMID:24833718|PMID:25741868|PMID:25907466|PMID:26333736|PMID:27146836|PMID:27274304|PMID:27611364|PMID:27724990|PMID:28492532|PMID:28855619|PMID:29357934|PMID:30675029|PMID:30739908|PMID:31098894|PMID:31211626|PMID:31751304|PMID:31950671|PMID:32679894|PMID:34498425 12426054 FBN1 fibrillin 1 gene DOID:9005367 Arachnodactyly ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arachnodactyly PMID:10533071|PMID:10633129|PMID:10874320|PMID:11143906|PMID:11700157|PMID:11826022|PMID:12203987|PMID:12402346|PMID:12446365|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15241795|PMID:16220557|PMID:16222657|PMID:16835936|PMID:16971892|PMID:17253931|PMID:17576681|PMID:17657824|PMID:17663468|PMID:17679947|PMID:18087243|PMID:18615205|PMID:19089573|PMID:19159394|PMID:19293843|PMID:19328768|PMID:19839986|PMID:21542060|PMID:21895641|PMID:21932315|PMID:22772377|PMID:24033266|PMID:24161884|PMID:24199744|PMID:25053872|PMID:25741868|PMID:26133393|PMID:28492532|PMID:29357934|PMID:31098894|PMID:7611299|PMID:8040326|PMID:8541880|PMID:8791520|PMID:8894692|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9536098 12426054 FBN1 fibrillin 1 gene DOID:9005492 Marfan Lipodystrophy Syndrome ISO RGD:731577 D RGD:7240710 20190315 OMIM 12426054 FBN1 fibrillin 1 gene DOID:9005492 Marfan Lipodystrophy Syndrome ISO RGD:731577 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MARFAN-PROGEROID-LIPODYSTROPHY SYNDROME | ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME | ClinVar Annotator: match by term: Marfan lipodystrophy syndrome PMID:10464652|PMID:10533071|PMID:10612827|PMID:10633129|PMID:11068200|PMID:11139245|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15880509|PMID:15980072|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16571647|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18615205|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22772377|PMID:22950452|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23608731|PMID:23684891|PMID:23719250|PMID:23794388|PMID:24033266|PMID:24039054|PMID:24161884|PMID:24199744|PMID:24613577|PMID:24665001|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25326635|PMID:25504618|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26333736|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26787436|PMID:26875674|PMID:27058611|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27959697|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32431097|PMID:32679894|PMID:32730690|PMID:32939518|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34008892|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8541880|PMID:8653794|PMID:8723076|PMID:8791520|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9536098|PMID:9837823 12426054 FBN1 fibrillin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620908 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus (rat) PMID:16380460|REF_RGD_ID:7365080 12426054 FBN1 fibrillin 1 gene DOID:9005890 Disproportionate Tall Stature ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature PMID:10633129|PMID:11992479|PMID:17418587|PMID:17627385|PMID:17657824|PMID:21895641|PMID:23577066|PMID:24033266|PMID:24941995|PMID:25326635|PMID:25741868|PMID:25812041|PMID:25852444|PMID:26787436|PMID:26875674|PMID:27959697|PMID:28492532|PMID:31211626|PMID:32123317|PMID:7870075|PMID:8653794|PMID:8723076|PMID:9399842|PMID:9837823 12426054 FBN1 fibrillin 1 gene DOID:9006768 Beaulieu-Boycott-Innes Syndrome ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome PMID:15241795|PMID:16571647|PMID:16905551|PMID:17701892|PMID:18435798|PMID:19293843|PMID:19349279|PMID:25741868|PMID:28492532 12426054 FBN1 fibrillin 1 gene DOID:9007096 Stroke ISO RGD:731577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CEREBROVASCULAR ACCIDENT PMID:10533071|PMID:10874320|PMID:11700157|PMID:12402346|PMID:12938084|PMID:14695540|PMID:16220557|PMID:16222657|PMID:16835936|PMID:17253931|PMID:17576681|PMID:17657824|PMID:17663468|PMID:19159394|PMID:19293843|PMID:21542060|PMID:24033266|PMID:24161884|PMID:25741868|PMID:26133393|PMID:28492532|PMID:29357934|PMID:31098894|PMID:7611299|PMID:8894692|PMID:9401003|PMID:9536098 12426054 FBN1 fibrillin 1 gene DOID:9007529 Marfan Syndrome, Autosomal Recessive ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome, autosomal recessive PMID:16342915|PMID:17568394|PMID:19293843|PMID:19839986|PMID:23278365|PMID:24033266|PMID:24161884|PMID:24793577|PMID:25652356|PMID:25741868|PMID:26272055|PMID:26787436|PMID:28492532|PMID:30485715|PMID:30739908|PMID:33394117|PMID:33824467|PMID:9477945 12426054 FBN1 fibrillin 1 gene DOID:9007573 Flatfoot ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pes planus PMID:20564469|PMID:24161884|PMID:25741868|PMID:28492532 12426054 FBN1 fibrillin 1 gene DOID:9007661 Dwarfism ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:21683322|PMID:25741868|PMID:27245183|PMID:28492532 12426054 FBN1 fibrillin 1 gene DOID:9007662 Dwarfism with Tall Vertebrae ISO RGD:731577 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dwarfism with tall vertebrae PMID:25741868 12426054 FBN1 fibrillin 1 gene DOID:9007706 MASS Syndrome ISO RGD:731577 D RGD:7240710 20180130 OMIM 12426054 FBN1 fibrillin 1 gene DOID:9007706 MASS Syndrome ISO RGD:731577 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MASS syndrome | ClinVar Annotator: match by term: Overlap connective tissue disease PMID:10464652|PMID:10533071|PMID:10612827|PMID:10633129|PMID:11068200|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:1569206|PMID:15880509|PMID:15980072|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16571647|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18615205|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20699357|PMID:20886638|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22772377|PMID:22950452|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23608731|PMID:23684891|PMID:23719250|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25326635|PMID:25504618|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26333736|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26787436|PMID:26875674|PMID:27058611|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27382527|PMID:2739055|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27959697|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30048161|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32730690|PMID:32939518|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34008892|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8541880|PMID:8653794|PMID:8723076|PMID:8791520|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9536098|PMID:9837823 12426054 FBN1 fibrillin 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 12426054 FBN1 fibrillin 1 gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AAT1 | ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 1 | ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:10633129|PMID:11524736|PMID:11748851|PMID:11826022|PMID:11933199|PMID:11992479|PMID:12938084|PMID:14695540|PMID:16222657|PMID:17418587|PMID:17618372|PMID:17627385|PMID:17657824|PMID:18435798|PMID:19161152|PMID:19293843|PMID:19618372|PMID:19863550|PMID:20082464|PMID:21542060|PMID:21895641|PMID:23506379|PMID:23577066|PMID:24033266|PMID:24793577|PMID:24941995|PMID:25101912|PMID:25326635|PMID:25637381|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25907466|PMID:25944730|PMID:26272055|PMID:26621581|PMID:26787436|PMID:26875674|PMID:27112580|PMID:27153395|PMID:27582083|PMID:27959697|PMID:28492532|PMID:28655553|PMID:28659821|PMID:29357934|PMID:29543232|PMID:30371227|PMID:31211626|PMID:31227806|PMID:32123317|PMID:7870075|PMID:8653794|PMID:8723076|PMID:9399842|PMID:9837823 12426054 FBN1 fibrillin 1 gene DOID:9008691 Liver Injury ISO RGD:620908 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:24359594|REF_RGD_ID:7794798 12426054 FBN1 fibrillin 1 gene DOID:9009005 Familial Thoracic Aortic Aneurysm 2 ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 PMID:25741868|PMID:28492532 12426054 FBN1 fibrillin 1 gene DOID:9256 colorectal cancer ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12426054 FBN1 fibrillin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:620908 D RGD:9068941 20200609 RGD PMID:20836762|REF_RGD_ID:7257556 12426054 FBN1 fibrillin 1 gene DOID:988 mitral valve prolapse ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitral valve prolapse PMID:25741868 12426129 DTX2 deltex E3 ubiquitin ligase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322389 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12426129 DTX2 deltex E3 ubiquitin ligase 2 gene DOID:630 genetic disease ISO RGD:1322389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426129 DTX2 deltex E3 ubiquitin ligase 2 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1322389 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 12426129 DTX2 deltex E3 ubiquitin ligase 2 gene DOID:9007502 Brain Neoplasms ISO RGD:1322389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 12426153 FER1L5 fer-1 like family member 5 gene DOID:1059 intellectual disability ISO RGD:1625097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12426153 FER1L5 fer-1 like family member 5 gene DOID:5419 schizophrenia ISO RGD:1625097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12426153 FER1L5 fer-1 like family member 5 gene DOID:630 genetic disease ISO RGD:1625097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426215 KIF24 kinesin family member 24 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1317081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12426215 KIF24 kinesin family member 24 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1317081 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12426215 KIF24 kinesin family member 24 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1317081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 12426215 KIF24 kinesin family member 24 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1317081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12426215 KIF24 kinesin family member 24 gene DOID:574 peripheral nervous system disease ISO RGD:1317081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:26378787 12426215 KIF24 kinesin family member 24 gene DOID:630 genetic disease ISO RGD:1317081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426215 KIF24 kinesin family member 24 gene DOID:870 neuropathy ISO RGD:1317081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:26378787 12426215 KIF24 kinesin family member 24 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12426215 KIF24 kinesin family member 24 gene DOID:9870 galactosemia ISO RGD:1317081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12426237 CCN4 cellular communication network factor 4 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:69487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:12872253|PMID:23996628|PMID:28492532 12426237 CCN4 cellular communication network factor 4 gene DOID:14264 benign neonatal seizures ISO RGD:69487 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 12426237 CCN4 cellular communication network factor 4 gene DOID:630 genetic disease ISO RGD:69487 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426237 CCN4 cellular communication network factor 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30723155 12426237 CCN4 cellular communication network factor 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69431 D RGD:9068941 20200609 RGD PMID:24600972|REF_RGD_ID:10003105 12426237 CCN4 cellular communication network factor 4 gene DOID:9004656 Airway Remodeling treatment ISO RGD:69431 D RGD:9068941 20200609 RGD associated with Asthma PMID:23845395|REF_RGD_ID:10003106 12426237 CCN4 cellular communication network factor 4 gene DOID:9007480 Hyperoxia treatment ISO RGD:69431 D RGD:9068941 20200609 RGD PMID:23481549|REF_RGD_ID:10003108 12426245 TRIM17 tripartite motif containing 17 gene DOID:1540 parathyroid carcinoma ISO RGD:736909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12426245 TRIM17 tripartite motif containing 17 gene DOID:630 genetic disease ISO RGD:736909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426245 TRIM17 tripartite motif containing 17 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12426262 MZF1 myeloid zinc finger 1 gene DOID:630 genetic disease ISO RGD:1318132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426287 KLHL18 kelch like family member 18 gene DOID:630 genetic disease ISO RGD:1351976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426287 KLHL18 kelch like family member 18 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1351976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12426287 KLHL18 kelch like family member 18 gene DOID:9008051 Luscan-Lumish Syndrome ISO RGD:1351976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Luscan-Lumish syndrome PMID:28492532 12426310 GALNT18 polypeptide N-acetylgalactosaminyltransferase 18 gene DOID:630 genetic disease ISO RGD:1347297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426310 GALNT18 polypeptide N-acetylgalactosaminyltransferase 18 gene DOID:9001345 Okur-Chung Neurodevelopmental Syndrome ISO RGD:1347297 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Okur-Chung neurodevelopmental syndrome PMID:25741868 12426325 DMGDH dimethylglycine dehydrogenase gene DOID:630 genetic disease ISO RGD:731431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426325 DMGDH dimethylglycine dehydrogenase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731431 D RGD:9068941 20220616 RGD associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 12426325 DMGDH dimethylglycine dehydrogenase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12426325 DMGDH dimethylglycine dehydrogenase gene DOID:9005574 Dimethylglycine Dehydrogenase Deficiency ISO RGD:731431 D RGD:7240710 20180130 OMIM 12426325 DMGDH dimethylglycine dehydrogenase gene DOID:9005574 Dimethylglycine Dehydrogenase Deficiency ISO RGD:731431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dimethylglycine dehydrogenase deficiency PMID:10102904|PMID:10767172|PMID:11231903|PMID:25741868|PMID:28492532 12426351 FCRL4 Fc receptor like 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1603196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12426351 FCRL4 Fc receptor like 4 gene DOID:630 genetic disease ISO RGD:1603196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426351 FCRL4 Fc receptor like 4 gene DOID:9008386 Hydrops Fetalis ISO RGD:1603196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 12426351 FCRL4 Fc receptor like 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12426366 CTIF cap binding complex dependent translation initiation factor gene DOID:1059 intellectual disability ISO RGD:1350648 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12426366 CTIF cap binding complex dependent translation initiation factor gene DOID:630 genetic disease ISO RGD:1350648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426390 TOGARAM1 TOG array regulator of axonemal microtubules 1 gene DOID:0050777 Joubert syndrome ISO RGD:1321397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:32453716|PMID:32747439 12426390 TOGARAM1 TOG array regulator of axonemal microtubules 1 gene DOID:13636 Fanconi anemia ISO RGD:1321397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29895858|PMID:30075111 12426390 TOGARAM1 TOG array regulator of axonemal microtubules 1 gene DOID:630 genetic disease ISO RGD:1321397 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426390 TOGARAM1 TOG array regulator of axonemal microtubules 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321397 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12426390 TOGARAM1 TOG array regulator of axonemal microtubules 1 gene DOID:9007319 Joubert Syndrome 37 ISO RGD:1321397 D RGD:7240710 20210303 OMIM 12426390 TOGARAM1 TOG array regulator of axonemal microtubules 1 gene DOID:9007319 Joubert Syndrome 37 ISO RGD:1321397 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Joubert syndrome 37 PMID:25741868|PMID:32453716|PMID:32747439 12426424 LDLRAD1 low density lipoprotein receptor class A domain containing 1 gene DOID:630 genetic disease ISO RGD:1603477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426444 LRRC43 leucine rich repeat containing 43 gene DOID:0080600 COVID-19 ISO RGD:1602639 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12426444 LRRC43 leucine rich repeat containing 43 gene DOID:630 genetic disease ISO RGD:1602639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426464 LOC100688626 uncharacterized LOC100688626 gene DOID:11372 megacolon ISO RGD:1604924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12426464 LOC100688626 uncharacterized LOC100688626 gene DOID:2717 Bloom syndrome ISO RGD:1604924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12426464 LOC100688626 uncharacterized LOC100688626 gene DOID:630 genetic disease ISO RGD:1604924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426464 LOC100688626 uncharacterized LOC100688626 gene DOID:9256 colorectal cancer ISO RGD:1604924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12426464 LOC100688626 uncharacterized LOC100688626 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604924 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20818381 12426473 METTL21C methyltransferase 21C, AARS1 lysine gene DOID:0110878 holoprosencephaly 5 ISO RGD:1606433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 12426473 METTL21C methyltransferase 21C, AARS1 lysine gene DOID:14701 propionic acidemia ISO RGD:1606433 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 12426473 METTL21C methyltransferase 21C, AARS1 lysine gene DOID:630 genetic disease ISO RGD:1606433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426473 METTL21C methyltransferase 21C, AARS1 lysine gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1606433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12426473 METTL21C methyltransferase 21C, AARS1 lysine gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:1606433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 12426486 RPS6KL1 ribosomal protein S6 kinase like 1 gene DOID:1059 intellectual disability ISO RGD:1319861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12426486 RPS6KL1 ribosomal protein S6 kinase like 1 gene DOID:630 genetic disease ISO RGD:1319861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426501 MIR96 microRNA mir-96 gene DOID:0110576 autosomal dominant nonsyndromic deafness 50 ISO RGD:1349367 D RGD:7240710 20181003 OMIM 12426501 MIR96 microRNA mir-96 gene DOID:0110576 autosomal dominant nonsyndromic deafness 50 ISO RGD:1349367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 50 PMID:14757864|PMID:19363479 12426501 MIR96 microRNA mir-96 gene DOID:1094 attention deficit hyperactivity disorder susceptibility ISO RGD:1349367 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :rs6965643,rs2402959(human) PMID:23906647|REF_RGD_ID:11553930 12426501 MIR96 microRNA mir-96 gene DOID:11446 sciatic neuropathy ISO RGD:2325582 D RGD:9068941 20200609 RGD RNA:decreased expression:dorsal root ganglion: PMID:24234845|REF_RGD_ID:11553932 12426501 MIR96 microRNA mir-96 gene DOID:4752 multiple system atrophy ISO RGD:1349367 D RGD:9068941 20200609 RGD RNA:increased expression:frontal cortex: PMID:24304186|REF_RGD_ID:11553929 12426501 MIR96 microRNA mir-96 gene DOID:4752 multiple system atrophy ISO RGD:1608170 D RGD:9068941 20200609 RGD RNA:increased expression:frontal cortex: PMID:24304186|REF_RGD_ID:11553929 12426501 MIR96 microRNA mir-96 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12426501 MIR96 microRNA mir-96 gene DOID:5679 retinal disease ISO RGD:1349367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27208084 12426501 MIR96 microRNA mir-96 gene DOID:6000 congestive heart failure ISO RGD:1349367 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12426501 MIR96 microRNA mir-96 gene DOID:684 hepatocellular carcinoma ISO RGD:1349367 D RGD:9068941 20200609 RGD miRNA:increased expression:liver (human) PMID:28892647|REF_RGD_ID:15042901 12426501 MIR96 microRNA mir-96 gene DOID:684 hepatocellular carcinoma ISO RGD:1608170 D RGD:9068941 20200609 RGD miRNA:increased expression:liver (human) PMID:28892647|REF_RGD_ID:15042901 12426501 MIR96 microRNA mir-96 gene DOID:684 hepatocellular carcinoma ISO RGD:2325582 D RGD:9068941 20200609 RGD miRNA:increased expression:liver (human) PMID:28892647|REF_RGD_ID:15042901 12426501 MIR96 microRNA mir-96 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1349367 D RGD:9068941 20200609 RGD miRNA:increased expression:liver (human) PMID:25813403|REF_RGD_ID:15042902 12426501 MIR96 microRNA mir-96 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1608170 D RGD:9068941 20200609 RGD miRNA:increased expression:liver (human) PMID:25813403|REF_RGD_ID:15042902 12426501 MIR96 microRNA mir-96 gene DOID:684 hepatocellular carcinoma severity ISO RGD:2325582 D RGD:9068941 20200609 RGD miRNA:increased expression:liver (human) PMID:25813403|REF_RGD_ID:15042902 12426501 MIR96 microRNA mir-96 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 12426501 MIR96 microRNA mir-96 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2325582 D RGD:9068941 20200609 RGD RNA:altered expression:dorsal root ganglion: PMID:19699278|REF_RGD_ID:11553934 12426501 MIR96 microRNA mir-96 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2325582 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:24234845|REF_RGD_ID:11553932 12426501 MIR96 microRNA mir-96 gene DOID:9004538 Hearing Loss ISO RGD:1349367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 12426501 MIR96 microRNA mir-96 gene DOID:9004610 Acute Lung Injury ISO RGD:2325582 D RGD:9068941 20200609 RGD associated with Disseminated Intravascular Coagulation;RNA:increased expression:lung: PMID:24806323|REF_RGD_ID:11553933 12426501 MIR96 microRNA mir-96 gene DOID:9006447 Eye Injuries ISO RGD:1349367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27208084 12426580 UCP3 uncoupling protein 3 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:733835 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12426580 UCP3 uncoupling protein 3 gene DOID:1059 intellectual disability ISO RGD:733835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12426580 UCP3 uncoupling protein 3 gene DOID:10763 hypertension ISO RGD:3933 D RGD:9068941 20200609 RGD PMID:10994754|REF_RGD_ID:1580795 12426580 UCP3 uncoupling protein 3 gene DOID:11716 prediabetes syndrome ISO RGD:3933 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brown fat PMID:12659879|REF_RGD_ID:2313629 12426580 UCP3 uncoupling protein 3 gene DOID:11716 prediabetes syndrome ISO RGD:733835 D RGD:9068941 20200609 RGD PMID:17587402|REF_RGD_ID:2313514 12426580 UCP3 uncoupling protein 3 gene DOID:11981 morbid obesity ISO RGD:733835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: OBESITY, SEVERE PMID:28492532|PMID:9769326 12426580 UCP3 uncoupling protein 3 gene DOID:1459 hypothyroidism ISO RGD:3933 D RGD:9068941 20200609 RGD protein:decreased expression:skeletal muscle, mitochondrion PMID:17012607|REF_RGD_ID:2313535 12426580 UCP3 uncoupling protein 3 gene DOID:4247 coronary restenosis susceptibility ISO RGD:733835 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-55C>T (human) PMID:17786284|REF_RGD_ID:2313513 12426580 UCP3 uncoupling protein 3 gene DOID:6000 congestive heart failure ISO RGD:3933 D RGD:9068941 20200609 RGD protein:decreased expression:heart, mitochondria PMID:20809120|REF_RGD_ID:7204424 12426580 UCP3 uncoupling protein 3 gene DOID:630 genetic disease ISO RGD:733835 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12426580 UCP3 uncoupling protein 3 gene DOID:767 muscular atrophy ISO RGD:11474 D RGD:9068941 20200609 RGD mRNA:altered expression:quadriceps muscle (mouse) PMID:19462004|REF_RGD_ID:10045654 12426580 UCP3 uncoupling protein 3 gene DOID:7998 hyperthyroidism ISO RGD:3933 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle, mitochondrion PMID:17012607|REF_RGD_ID:2313535 12426580 UCP3 uncoupling protein 3 gene DOID:9002188 Hypoinsulinemia ISO RGD:733835 D RGD:9068941 20200609 RGD PMID:10935638|REF_RGD_ID:737762 12426580 UCP3 uncoupling protein 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733835 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22919386 12426580 UCP3 uncoupling protein 3 gene DOID:9002916 Hyperphagia ISO RGD:733835 D RGD:9068941 20200609 RGD PMID:10935638|REF_RGD_ID:737762 12426580 UCP3 uncoupling protein 3 gene DOID:9004538 Hearing Loss ISO RGD:3933 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cochlea (rat) PMID:22543089|REF_RGD_ID:10045653 12426580 UCP3 uncoupling protein 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3933 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:10868941|REF_RGD_ID:2313524 12426580 UCP3 uncoupling protein 3 gene DOID:9005643 Experimental Diabetes Mellitus susceptibility ISO RGD:733835 D RGD:9068941 20200609 RGD PMID:12079841|REF_RGD_ID:2313520 12426580 UCP3 uncoupling protein 3 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3933 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart right ventricle PMID:17704287|REF_RGD_ID:2302404 12426580 UCP3 uncoupling protein 3 gene DOID:9007692 Insulin Resistance ISO RGD:733835 D RGD:9068941 20200609 RGD PMID:17571165|REF_RGD_ID:2313515 12426580 UCP3 uncoupling protein 3 gene DOID:9007692 Insulin Resistance ISO RGD:733835 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-55C>T (human) PMID:17870627|REF_RGD_ID:2313512 12426580 UCP3 uncoupling protein 3 gene DOID:9007751 Hypocholesterolemia ISO RGD:733835 D RGD:9068941 20200609 RGD PMID:10935638|REF_RGD_ID:737762 12426580 UCP3 uncoupling protein 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3933 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium PMID:19526854|REF_RGD_ID:2313528 12426580 UCP3 uncoupling protein 3 gene DOID:9351 diabetes mellitus ISO RGD:733835 D RGD:9068941 20200609 RGD PMID:17587402|REF_RGD_ID:2313514 12426580 UCP3 uncoupling protein 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: UCP3 POLYMORPHISM G/A PMID:28492532|PMID:9769326 12426580 UCP3 uncoupling protein 3 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:733835 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-55C>T (human) PMID:11484089|REF_RGD_ID:2313522 12426580 UCP3 uncoupling protein 3 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:733835 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-55C>T (human) PMID:11126413|REF_RGD_ID:2313523 12426580 UCP3 uncoupling protein 3 gene DOID:9743 diabetic neuropathy susceptibility ISO RGD:733835 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism:promoter:-55C>T (human) PMID:16373902|REF_RGD_ID:2313516 12426580 UCP3 uncoupling protein 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:11474 D RGD:9068941 20200609 RGD PMID:18678617|REF_RGD_ID:2313502 12426580 UCP3 uncoupling protein 3 gene DOID:9970 obesity ISO RGD:733835 D RGD:7240710 20200129 OMIM 12426580 UCP3 uncoupling protein 3 gene DOID:9970 obesity ISO RGD:733835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, severe, and type II diabetes | ClinVar Annotator: match by term: UCP3 POLYMORPHISM G/A PMID:25741868|PMID:28492532|PMID:9769326 12426580 UCP3 uncoupling protein 3 gene DOID:9970 obesity no_association ISO RGD:733835 D RGD:9068941 20200609 RGD DNA:polymorphism:exon (human) PMID:9700198|REF_RGD_ID:2313526 12426580 UCP3 uncoupling protein 3 gene DOID:9970 obesity susceptibility ISO RGD:733835 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-55C>T (human) PMID:18249216|REF_RGD_ID:2313506 12426580 UCP3 uncoupling protein 3 gene DOID:9993 hypoglycemia ISO RGD:733835 D RGD:9068941 20200609 RGD PMID:10935638|REF_RGD_ID:737762 12426595 CHL1 cell adhesion molecule L1 like gene DOID:1059 intellectual disability ISO RGD:1346370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12812975 12426595 CHL1 cell adhesion molecule L1 like gene DOID:12849 autistic disorder ISO RGD:1346370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12426595 CHL1 cell adhesion molecule L1 like gene DOID:1826 epilepsy ISO RGD:1346370 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12426595 CHL1 cell adhesion molecule L1 like gene DOID:5419 schizophrenia ISO RGD:1346370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11986985|PMID:15653271 12426595 CHL1 cell adhesion molecule L1 like gene DOID:5419 schizophrenia ISO RGD:1346370 D RGD:9068941 20200609 RGD PMID:11986985|REF_RGD_ID:1358505 12426595 CHL1 cell adhesion molecule L1 like gene DOID:630 genetic disease ISO RGD:1346370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12426595 CHL1 cell adhesion molecule L1 like gene DOID:9000039 Spinal Cord Injuries ISO RGD:620122 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (rat) PMID:21337374|REF_RGD_ID:6483045 12426595 CHL1 cell adhesion molecule L1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12426595 Chl1 cell adhesion molecule L1-like gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:620122 D RGD:9068941 20200609 RGD PMID:21452236|REF_RGD_ID:6483040 12426636 STMN3 stathmin 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:69018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 12426636 STMN3 stathmin 3 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:69018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12426636 STMN3 stathmin 3 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:69018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 12426636 STMN3 stathmin 3 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:69018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 12426636 STMN3 stathmin 3 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:69018 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 12426636 STMN3 stathmin 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:69018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 12426636 STMN3 stathmin 3 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:69018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12426636 STMN3 stathmin 3 gene DOID:630 genetic disease ISO RGD:69018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426636 STMN3 stathmin 3 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:69018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 12426646 POMP proteasome maturation protein gene DOID:0080600 COVID-19 ISO RGD:1314101 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12426646 POMP proteasome maturation protein gene DOID:13641 exfoliation syndrome ISO RGD:1314101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28553957 12426646 POMP proteasome maturation protein gene DOID:630 genetic disease ISO RGD:1314101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12426646 POMP proteasome maturation protein gene DOID:9007082 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma ISO RGD:1314101 D RGD:7240710 20180130 OMIM 12426646 POMP proteasome maturation protein gene DOID:9007082 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma ISO RGD:1314101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma PMID:20226437|PMID:22235297|PMID:25741868|PMID:27503413|PMID:28492532 12426646 POMP proteasome maturation protein gene DOID:9009201 Proteasome-Associated Autoinflammatory Syndrome 2 ISO RGD:1314101 D RGD:7240710 20190315 OMIM 12426646 POMP proteasome maturation protein gene DOID:9009201 Proteasome-Associated Autoinflammatory Syndrome 2 ISO RGD:1314101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 2 PMID:12022327|PMID:25741868|PMID:26524591|PMID:28492532|PMID:29805043 12426656 SPAG6 sperm associated antigen 6 gene DOID:630 genetic disease ISO RGD:1313749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426674 ITIH2 inter-alpha-trypsin inhibitor heavy chain 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1345234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12426674 ITIH2 inter-alpha-trypsin inhibitor heavy chain 2 gene DOID:630 genetic disease ISO RGD:1345234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426699 UTP15 UTP15 small subunit processome component gene DOID:630 genetic disease ISO RGD:1604578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426699 UTP15 UTP15 small subunit processome component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12426716 ITFG1 integrin alpha FG-GAP repeat containing 1 gene DOID:0111041 glycogen storage disease IXb ISO RGD:735534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 12426716 ITFG1 integrin alpha FG-GAP repeat containing 1 gene DOID:630 genetic disease ISO RGD:735534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426738 SCARB2 scavenger receptor class B member 2 gene DOID:0080600 COVID-19 ISO RGD:732465 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12426738 SCARB2 scavenger receptor class B member 2 gene DOID:0111444 progressive myoclonus epilepsy 4 ISO RGD:732465 D RGD:7240710 20180130 OMIM 12426738 SCARB2 scavenger receptor class B member 2 gene DOID:0111444 progressive myoclonus epilepsy 4 ISO RGD:732465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 4, with or without renal failure PMID:15364701|PMID:16199547|PMID:17576681|PMID:18308289|PMID:18424452|PMID:19454373|PMID:19597094|PMID:19847901|PMID:21670406|PMID:21796727|PMID:22032306|PMID:22767442|PMID:23225201|PMID:23515316|PMID:23659519|PMID:24339182|PMID:24485911|PMID:24620919|PMID:25088547|PMID:25741868|PMID:26467025|PMID:26836416|PMID:28222800|PMID:28492532|PMID:29261713|PMID:29358611|PMID:9536098 12426738 SCARB2 scavenger receptor class B member 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:732465 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25088547|PMID:25741868|PMID:26467025|PMID:28492532 12426738 SCARB2 scavenger receptor class B member 2 gene DOID:1826 epilepsy ISO RGD:732465 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12426738 SCARB2 scavenger receptor class B member 2 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:732465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611 12426738 SCARB2 scavenger receptor class B member 2 gene DOID:630 genetic disease ISO RGD:732465 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18308289|PMID:19847901|PMID:24485911|PMID:24620919|PMID:25088547|PMID:25741868|PMID:26467025|PMID:26836416|PMID:28222800|PMID:28492532|PMID:29261713|PMID:29358611|PMID:9536098 12426738 SCARB2 scavenger receptor class B member 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:732465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:15364701|PMID:16199547|PMID:17576681|PMID:18308289|PMID:19597094|PMID:19847901|PMID:21670406|PMID:22767442|PMID:23515316|PMID:23659519|PMID:24339182|PMID:24485911|PMID:24620919|PMID:25088547|PMID:25741868|PMID:26467025|PMID:26836416|PMID:28222800|PMID:28492532|PMID:29261713|PMID:29358611|PMID:9536098 12426738 SCARB2 scavenger receptor class B member 2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:732465 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12426738 SCARB2 scavenger receptor class B member 2 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:732465 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myoclonus epilepsy PMID:25741868|PMID:28492532|PMID:29358611 12426757 CCDC158 coiled-coil domain containing 158 gene DOID:630 genetic disease ISO RGD:1602411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426757 CCDC158 coiled-coil domain containing 158 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1602411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 12426757 CCDC158 coiled-coil domain containing 158 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1602411 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12426806 TMEM59 transmembrane protein 59 gene DOID:630 genetic disease ISO RGD:1321145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426806 TMEM59 transmembrane protein 59 gene DOID:9002239 Estrogen Resistance ISO RGD:1321145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Estrogen resistance syndrome 12426825 HMGB3 high mobility group box 3 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:1350742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 12426825 HMGB3 high mobility group box 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12426825 HMGB3 high mobility group box 3 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:1350742 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 12426825 HMGB3 high mobility group box 3 gene DOID:0111811 syndromic microphthalmia 13 ISO RGD:1350742 D RGD:7240710 20180130 OMIM 12426825 HMGB3 high mobility group box 3 gene DOID:11054 urinary bladder cancer ISO RGD:1350742 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30639441 12426825 HMGB3 high mobility group box 3 gene DOID:12849 autistic disorder ISO RGD:1350742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12426825 HMGB3 high mobility group box 3 gene DOID:630 genetic disease ISO RGD:1350742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426855 KMT2D lysine methyltransferase 2D gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21804550 12426855 KMT2D lysine methyltransferase 2D gene DOID:0050834 CHARGE syndrome ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:29300383 12426855 KMT2D lysine methyltransferase 2D gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:1350607 D RGD:9068941 20211119 RGD PMID:31660637|REF_RGD_ID:150521713 12426855 KMT2D lysine methyltransferase 2D gene DOID:0050873 follicular lymphoma ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 12426855 KMT2D lysine methyltransferase 2D gene DOID:0060041 autism spectrum disorder ISO RGD:1350607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12426855 KMT2D lysine methyltransferase 2D gene DOID:0060058 lymphoma ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoma 12426855 KMT2D lysine methyltransferase 2D gene DOID:0060473 Kabuki syndrome ISO RGD:1350607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome | ClinVar Annotator: match by term: Niikawa-Kuroki syndrome PMID:12482968|PMID:14608645|PMID:14699623|PMID:16199547|PMID:16603732|PMID:17576681|PMID:18414213|PMID:19625956|PMID:20711175|PMID:2071175|PMID:21280141|PMID:21607748|PMID:21658225|PMID:21671394|PMID:22126750|PMID:22304445|PMID:22740433|PMID:22786791|PMID:23320472|PMID:23757202|PMID:23913813|PMID:24033266|PMID:24311525|PMID:24633898|PMID:24728327|PMID:24739679|PMID:25142838|PMID:25281733|PMID:25741868|PMID:25755104|PMID:25896430|PMID:25972376|PMID:26049589|PMID:26194542|PMID:26300940|PMID:26467025|PMID:26512256|PMID:26785492|PMID:26898171|PMID:26938784|PMID:27257180|PMID:27302555|PMID:27353043|PMID:27568880|PMID:27573763|PMID:27620904|PMID:27778401|PMID:27991736|PMID:28256057|PMID:28295206|PMID:28475860|PMID:28492532|PMID:28884889|PMID:28884922|PMID:28973083|PMID:29168297|PMID:29255178|PMID:29304373|PMID:29321794|PMID:29450879|PMID:29453417|PMID:29536651|PMID:29725259|PMID:29846842|PMID:29907798|PMID:30107592|PMID:30143558|PMID:30459467|PMID:30578106|PMID:3067577|PMID:30950893|PMID:31363182|PMID:31624253|PMID:31654559|PMID:31727177|PMID:31883305|PMID:31935506|PMID:31949313|PMID:31981491|PMID:32037394|PMID:32124548|PMID:32135276|PMID:32170002|PMID:32441320|PMID:32803813|PMID:33084842|PMID:33794347|PMID:36672956|PMID:3913813|PMID:9285441|PMID:9536098 12426855 KMT2D lysine methyltransferase 2D gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:27799067 12426855 KMT2D lysine methyltransferase 2D gene DOID:0070056 autosomal dominant intellectual developmental disorder 26 ISO RGD:1350607 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder due to AUTS2 deficiency PMID:25741868 12426855 KMT2D lysine methyltransferase 2D gene DOID:0080205 CAKUT ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 12426855 KMT2D lysine methyltransferase 2D gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 12426855 KMT2D lysine methyltransferase 2D gene DOID:10283 prostate cancer ISO RGD:1350607 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland (human) PMID:24200674|REF_RGD_ID:9587761 12426855 KMT2D lysine methyltransferase 2D gene DOID:10534 stomach cancer disease_progression ISO RGD:1350607 D RGD:9068941 20211119 RGD protein:increased expression:stomach PMID:30177394|REF_RGD_ID:150521710 12426855 KMT2D lysine methyltransferase 2D gene DOID:1059 intellectual disability ISO RGD:1350607 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:31846209 12426855 KMT2D lysine methyltransferase 2D gene DOID:10907 microcephaly ISO RGD:1350607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:21671394|PMID:22126750|PMID:25741868|PMID:28492532|PMID:30107592 12426855 KMT2D lysine methyltransferase 2D gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:1350607 D RGD:9068941 20221013 RGD DNA:SNP: :rs3782356(human) PMID:30121816|REF_RGD_ID:155582216 12426855 KMT2D lysine methyltransferase 2D gene DOID:11054 urinary bladder cancer ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121791 12426855 KMT2D lysine methyltransferase 2D gene DOID:11832 visual epilepsy ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:25741868 12426855 KMT2D lysine methyltransferase 2D gene DOID:12336 male infertility ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19348672 12426855 KMT2D lysine methyltransferase 2D gene DOID:1324 lung cancer ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:25741868 12426855 KMT2D lysine methyltransferase 2D gene DOID:1520 colon carcinoma ISO RGD:1350607 D RGD:9068941 20211119 RGD protein:increased expression:colon PMID:20433758|REF_RGD_ID:150523761 12426855 KMT2D lysine methyltransferase 2D gene DOID:1612 breast cancer ISO RGD:1350607 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast (human) PMID:23754336|REF_RGD_ID:9588236 12426855 KMT2D lysine methyltransferase 2D gene DOID:1826 epilepsy ISO RGD:1350607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12426855 KMT2D lysine methyltransferase 2D gene DOID:2785 Dandy-Walker syndrome ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:25741868 12426855 KMT2D lysine methyltransferase 2D gene DOID:3070 high grade glioma ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:25741868 12426855 KMT2D lysine methyltransferase 2D gene DOID:3459 breast carcinoma ISO RGD:1350607 D RGD:9068941 20211119 RGD protein:increased expression:cytoplasm, breast PMID:20433758|REF_RGD_ID:150523761 12426855 KMT2D lysine methyltransferase 2D gene DOID:3565 meningioma disease_progression ISO RGD:1350607 D RGD:9068941 20221013 RGD PMID:26240495|REF_RGD_ID:155582218 12426855 KMT2D lysine methyltransferase 2D gene DOID:3717 gastric adenocarcinoma ISO RGD:1350607 D RGD:9068941 20211119 RGD PMID:30177394|REF_RGD_ID:150521710 12426855 KMT2D lysine methyltransferase 2D gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 12426855 KMT2D lysine methyltransferase 2D gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1350607 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:25151357|REF_RGD_ID:9588233 12426855 KMT2D lysine methyltransferase 2D gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1350607 D RGD:9068941 20211119 RGD mRNA:increased expression:esophagus PMID:29532228|REF_RGD_ID:150521712 12426855 KMT2D lysine methyltransferase 2D gene DOID:3907 lung squamous cell carcinoma ISO RGD:1350607 D RGD:9068941 20211119 RGD PMID:24323028|REF_RGD_ID:150523770 12426855 KMT2D lysine methyltransferase 2D gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:1350607 D RGD:9068941 20211119 RGD PMID:28177435|PMID:30885352|REF_RGD_ID:150523776|REF_RGD_ID:150523777 12426855 KMT2D lysine methyltransferase 2D gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350607 D RGD:9068941 20211119 RGD DNA, protein:missense mutations, nonsense mutations, frameshift mutation, increased expression:lung PMID:25112956|REF_RGD_ID:150523769 12426855 KMT2D lysine methyltransferase 2D gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1350607 D RGD:9068941 20211119 RGD PMID:29627316|PMID:33665490|REF_RGD_ID:150523767|REF_RGD_ID:150523771 12426855 KMT2D lysine methyltransferase 2D gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1350607 D RGD:9068941 20211119 RGD associated with familial adenomatous polyposis;DNA:missense mutations, nonsense mutation PMID:32024448|REF_RGD_ID:150523759 12426855 KMT2D lysine methyltransferase 2D gene DOID:4435 cavernous sinus meningioma ISO RGD:1350607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cavernous sinus meningioma PMID:21671394|PMID:22126750|PMID:28492532 12426855 KMT2D lysine methyltransferase 2D gene DOID:5409 lung small cell carcinoma ISO RGD:1350607 D RGD:9068941 20211119 RGD PMID:28007623|PMID:29627316|REF_RGD_ID:150523766|REF_RGD_ID:150523767 12426855 KMT2D lysine methyltransferase 2D gene DOID:5409 lung small cell carcinoma ISO RGD:1350607 D RGD:9068941 20211119 RGD DNA:missense mutations, insertion/deletion:plasma PMID:29748005|REF_RGD_ID:127285383 12426855 KMT2D lysine methyltransferase 2D gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:1350607 D RGD:9068941 20211119 RGD PMID:27873319|REF_RGD_ID:150523768 12426855 KMT2D lysine methyltransferase 2D gene DOID:630 genetic disease ISO RGD:1350607 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11526114|PMID:11573085|PMID:12482968|PMID:14608645|PMID:14699623|PMID:15161914|PMID:16199547|PMID:16603732|PMID:18414213|PMID:19625956|PMID:20711175|PMID:21280141|PMID:21658225|PMID:21671394|PMID:22048023|PMID:22126750|PMID:22304445|PMID:22434255|PMID:23045699|PMID:23320472|PMID:23913813|PMID:24550110|PMID:24633898|PMID:24728327|PMID:24739679|PMID:25142838|PMID:25281733|PMID:25741868|PMID:25755104|PMID:25972376|PMID:26049589|PMID:26194542|PMID:26300940|PMID:26320581|PMID:26467025|PMID:26898171|PMID:26938784|PMID:27302555|PMID:27411375|PMID:27568880|PMID:27573763|PMID:27618451|PMID:27778401|PMID:27991736|PMID:28256057|PMID:28295206|PMID:28492532|PMID:28884889|PMID:28884922|PMID:29089047|PMID:29453417|PMID:29536651|PMID:30107592|PMID:30459467|PMID:3067577|PMID:31727177|PMID:31846209|PMID:31883305|PMID:32135276|PMID:32803813|PMID:34232366|PMID:9285441 12426855 KMT2D lysine methyltransferase 2D gene DOID:8541 Sezary's disease ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 12426855 KMT2D lysine methyltransferase 2D gene DOID:9000081 Lymphatic Metastasis ISO RGD:1350607 D RGD:9068941 20211119 RGD associated with stomach cancer PMID:30177394|REF_RGD_ID:150521710 12426855 KMT2D lysine methyltransferase 2D gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1350607 D RGD:9068941 20221013 RGD associated with colorectal cancer;DNA:mutations:: PMID:27875625|REF_RGD_ID:155582219 12426855 KMT2D lysine methyltransferase 2D gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1350607 D RGD:7240710 20191225 OMIM 12426855 KMT2D lysine methyltransferase 2D gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1350607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:16199547|PMID:17576681|PMID:18414213|PMID:19625956|PMID:20711175|PMID:2071175|PMID:21280141|PMID:21607748|PMID:21658225|PMID:21671394|PMID:21766738|PMID:22126750|PMID:22434255|PMID:22786791|PMID:23320472|PMID:23757202|PMID:23913813|PMID:24033266|PMID:24633898|PMID:24728327|PMID:24739679|PMID:24759409|PMID:25142838|PMID:25281733|PMID:25326635|PMID:25326637|PMID:25741868|PMID:25755104|PMID:25896430|PMID:25972376|PMID:26300940|PMID:26467025|PMID:26512256|PMID:26785492|PMID:26938784|PMID:27257180|PMID:27302555|PMID:27353043|PMID:27573763|PMID:27620904|PMID:28256057|PMID:28295206|PMID:28475860|PMID:28492532|PMID:28884922|PMID:28973083|PMID:29089047|PMID:29168297|PMID:29255178|PMID:29300383|PMID:29304373|PMID:29389947|PMID:29450879|PMID:29453417|PMID:30107592|PMID:30143558|PMID:30459467|PMID:30950893|PMID:31282990|PMID:31395954|PMID:31624253|PMID:31727177|PMID:31846209|PMID:31883305|PMID:31949313|PMID:32037394|PMID:32083401|PMID:32135276|PMID:32803813|PMID:36672956|PMID:3913813|PMID:9536098 12426855 KMT2D lysine methyltransferase 2D gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12426855 KMT2D lysine methyltransferase 2D gene DOID:9003879 Vein of Galen Aneurysm ISO RGD:1350607 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galen vein aneurysm PMID:28492532|PMID:30578106 12426855 KMT2D lysine methyltransferase 2D gene DOID:9004240 Phyllodes Tumor ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 12426855 KMT2D lysine methyltransferase 2D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350607 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12426855 KMT2D lysine methyltransferase 2D gene DOID:9004521 Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures ISO RGD:1350607 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures PMID:25741868 12426855 KMT2D lysine methyltransferase 2D gene DOID:9005985 Rubinstein Taybi like Syndrome ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rubinstein Taybi like syndrome PMID:30806792 12426855 KMT2D lysine methyltransferase 2D gene DOID:9006086 Intervertebral Disc Displacement severity ISO RGD:1350607 D RGD:9068941 20221020 RGD PMID:32599142|REF_RGD_ID:155598599 12426855 KMT2D lysine methyltransferase 2D gene DOID:9006194 Complement Component C1s Deficiency ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complement component C1s deficiency PMID:25741868 12426855 KMT2D lysine methyltransferase 2D gene DOID:9006534 Nervous System Malformations ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12426855 KMT2D lysine methyltransferase 2D gene DOID:9006778 Carotid Atherosclerosis severity ISO RGD:1350607 D RGD:9068941 20221013 RGD PMID:26764138|REF_RGD_ID:155582215 12426855 KMT2D lysine methyltransferase 2D gene DOID:9006871 BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME ISO RGD:1350607 D RGD:7240710 20230505 OMIM 12426855 KMT2D lysine methyltransferase 2D gene DOID:9006871 BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME ISO RGD:1350607 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome | ClinVar Annotator: match by term: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome PMID:12002153|PMID:25590979|PMID:25741868|PMID:28492532|PMID:31949313|PMID:32083401 12426855 KMT2D lysine methyltransferase 2D gene DOID:9008939 Breast Neoplasms ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 12426855 KMT2D lysine methyltransferase 2D gene DOID:903 gastrointestinal lymphoma disease_progression ISO RGD:1350607 D RGD:9068941 20211119 RGD PMID:26722499|REF_RGD_ID:11553660 12426855 KMT2D lysine methyltransferase 2D gene DOID:9352 type 2 diabetes mellitus ISO RGD:1319223 D RGD:9068941 20200609 RGD PMID:23826075|REF_RGD_ID:9588237 12426855 KMT2D lysine methyltransferase 2D gene DOID:9538 multiple myeloma ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma PMID:25326635|PMID:25741868 12426855 KMT2D lysine methyltransferase 2D gene DOID:9574 choanal atresia ISO RGD:1350607 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Choanal atresia PMID:25741868|PMID:31395954 12426914 RAB42 RAB42, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1604758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426920 ELL3 elongation factor for RNA polymerase II 3 gene DOID:2717 Bloom syndrome ISO RGD:1320517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12426920 ELL3 elongation factor for RNA polymerase II 3 gene DOID:630 genetic disease ISO RGD:1320517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426920 ELL3 elongation factor for RNA polymerase II 3 gene DOID:9256 colorectal cancer ISO RGD:1320517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12426935 CNOT6L CCR4-NOT transcription complex subunit 6 like gene DOID:630 genetic disease ISO RGD:1319296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426935 CNOT6L CCR4-NOT transcription complex subunit 6 like gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1319296 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 12426950 GABRP gamma-aminobutyric acid type A receptor subunit pi gene DOID:630 genetic disease ISO RGD:737032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426970 CHTF18 chromosome transmission fidelity factor 18 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1321395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12426970 CHTF18 chromosome transmission fidelity factor 18 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1321395 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12426970 CHTF18 chromosome transmission fidelity factor 18 gene DOID:1826 epilepsy ISO RGD:1321395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12426970 CHTF18 chromosome transmission fidelity factor 18 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1321395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12426970 CHTF18 chromosome transmission fidelity factor 18 gene DOID:630 genetic disease ISO RGD:1321395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12426995 ABHD15 abhydrolase domain containing 15 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1605591 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 12426995 ABHD15 abhydrolase domain containing 15 gene DOID:630 genetic disease ISO RGD:1605591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427001 YIPF6 Yip1 domain family member 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12427001 YIPF6 Yip1 domain family member 6 gene DOID:12849 autistic disorder ISO RGD:1605821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12427001 YIPF6 Yip1 domain family member 6 gene DOID:630 genetic disease ISO RGD:1605821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427021 SPACA9 sperm acrosome associated 9 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1353846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12427021 SPACA9 sperm acrosome associated 9 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1353846 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:25741868|PMID:28492532 12427021 SPACA9 sperm acrosome associated 9 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 12427021 SPACA9 sperm acrosome associated 9 gene DOID:0081097 Rafiq syndrome ISO RGD:1353846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 12427021 SPACA9 sperm acrosome associated 9 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1353846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 12427021 SPACA9 sperm acrosome associated 9 gene DOID:3652 Leigh disease ISO RGD:1353846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12427021 SPACA9 sperm acrosome associated 9 gene DOID:630 genetic disease ISO RGD:1353846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427050 PALB2 partner and localizer of BRCA2 gene DOID:0050671 female breast cancer susceptibility ISO RGD:1605949 D RGD:9068941 20220609 RGD DNA:missense mutation:cds: (human) PMID:30303537|REF_RGD_ID:152995259 12427050 PALB2 partner and localizer of BRCA2 gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1605949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 12427050 PALB2 partner and localizer of BRCA2 gene DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 ISO RGD:1605949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 PMID:25741868|PMID:28492532 12427050 PALB2 partner and localizer of BRCA2 gene DOID:0111094 Fanconi anemia complementation group N ISO RGD:1605949 D RGD:7240710 20230517 OMIM 12427050 PALB2 partner and localizer of BRCA2 gene DOID:0111094 Fanconi anemia complementation group N ISO RGD:1605949 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group N PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17924555|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763819|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26649820|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28664506|PMID:28709830|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29431189|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29945567|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30521987|PMID:30541756|PMID:30665703|PMID:30680046|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31089269|PMID:31090900|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31636395|PMID:31642931|PMID:31742824|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871297|PMID:32019277|PMID:32048105|PMID:32081490|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33169439|PMID:33193564|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:34113003|PMID:35089076|PMID:35263119|PMID:35806449|PMID:36988593 12427050 PALB2 partner and localizer of BRCA2 gene DOID:10534 stomach cancer ISO RGD:1605949 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:19264984|PMID:19763884|PMID:20412113|PMID:20852946|PMID:21165770|PMID:21285249|PMID:21618343|PMID:22692731|PMID:23561644|PMID:23935381|PMID:23935836|PMID:24033266|PMID:24136930|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24763289|PMID:24870022|PMID:25099575|PMID:25186627|PMID:25356972|PMID:25452441|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26720728|PMID:26845104|PMID:27553368|PMID:27624329|PMID:27783279|PMID:27798748|PMID:28152038|PMID:28194609|PMID:28413668|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28724667|PMID:28779002|PMID:29093764|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29506128|PMID:29566657|PMID:29752822|PMID:29915322|PMID:29945567|PMID:30067863|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30377213|PMID:30792206|PMID:30982232|PMID:31089269|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31619740|PMID:31786208|PMID:31841383|PMID:31844177|PMID:32339256|PMID:32427313|PMID:32566746|PMID:32832836|PMID:32854451|PMID:32885271|PMID:33169439|PMID:33471991|PMID:36988593 12427050 PALB2 partner and localizer of BRCA2 gene DOID:1324 lung cancer ISO RGD:1605949 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:25741868|PMID:26023681|PMID:28492532|PMID:29625052|PMID:29785153|PMID:31159747|PMID:31447099|PMID:31619740 12427050 PALB2 partner and localizer of BRCA2 gene DOID:13636 Fanconi anemia ISO RGD:1605949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:24136930|PMID:25099575|PMID:25741868|PMID:26467025|PMID:26564480|PMID:28492532 12427050 PALB2 partner and localizer of BRCA2 gene DOID:1520 colon carcinoma ISO RGD:1605949 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:18053174|PMID:21285249|PMID:21365267|PMID:21618343|PMID:22692731|PMID:23977390|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26689913|PMID:28135145|PMID:28492532|PMID:28779002|PMID:28825143|PMID:28944238|PMID:30287823|PMID:30303537|PMID:3040479|PMID:30638972|PMID:31586400|PMID:31636395|PMID:32546565|PMID:33195396|PMID:33471991 12427050 PALB2 partner and localizer of BRCA2 gene DOID:1520 colon carcinoma ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:18053174|PMID:21285249|PMID:21365267|PMID:21618343|PMID:22692731|PMID:23977390|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26689913|PMID:28135145|PMID:28492532|PMID:28779002|PMID:28825143|PMID:28944238|PMID:29522266|PMID:30287823|PMID:30303537|PMID:3040479|PMID:30638972|PMID:31586400|PMID:31636395|PMID:31911633|PMID:32546565|PMID:33195396|PMID:33471991 12427050 PALB2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:7240710 20230517 OMIM 12427050 PALB2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19423707|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28166811|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31159747|PMID:31214711|PMID:31300551|PMID:31467304|PMID:31481248|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:32019277|PMID:32068069|PMID:32295079|PMID:32339256|PMID:32566746|PMID:32832836|PMID:32854451|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806 12427050 PALB2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33811135|PMID:33980423|PMID:34371384 12427050 PALB2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33811135|PMID:33980423|PMID:34371384|PMID:35806449 12427050 PALB2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31575519|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33811135|PMID:33980423|PMID:34371384|PMID:35806449 12427050 PALB2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31575519|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33811135|PMID:33917078|PMID:33980423|PMID:34113003|PMID:34371384|PMID:35806449 12427050 PALB2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30833416|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32997802|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34371384|PMID:35806449 12427050 PALB2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30833416|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32997802|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34371384|PMID:35806449|PMID:36988593|PMID:9536098 12427050 PALB2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:7240710 20230517 OMIM 12427050 PALB2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer 3 PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:22241545|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27624329|PMID:27783279|PMID:27829436|PMID:28008555|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28580595|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28864920|PMID:28873162|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29522266|PMID:29752822|PMID:29753700|PMID:29909963|PMID:29945567|PMID:30093976|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30638972|PMID:30665703|PMID:30890586|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31586400|PMID:31636395|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32048105|PMID:32295079|PMID:32339256|PMID:32566746|PMID:33139182|PMID:33471991 12427050 PALB2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:22241545|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27595995|PMID:27624329|PMID:28008555|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28580595|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28864920|PMID:28873162|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29522266|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29909963|PMID:29945567|PMID:29961768|PMID:30093976|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30638972|PMID:30665703|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31586400|PMID:31636395|PMID:31757951|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32048105|PMID:32081490|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33139182|PMID:33471991 12427050 PALB2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:22241545|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27595995|PMID:27624329|PMID:28008555|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28580595|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28864920|PMID:28873162|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29522266|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29909963|PMID:29945567|PMID:29961768|PMID:30093976|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30638972|PMID:30665703|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31575519|PMID:31586400|PMID:31636395|PMID:31757951|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32048105|PMID:32081490|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33139182|PMID:33471991 12427050 PALB2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:22241545|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27595995|PMID:27624329|PMID:27878467|PMID:28008555|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:29052111|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29478780|PMID:29522266|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29945567|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30541756|PMID:30638972|PMID:30665703|PMID:30833416|PMID:30890586|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31312277|PMID:31447099|PMID:31570822|PMID:31586400|PMID:31636395|PMID:31757951|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32048105|PMID:32081490|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33139182|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33558524|PMID:33674644|PMID:33917078|PMID:34113003|PMID:35263119|PMID:36988593 12427050 PALB2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1605949 D RGD:9068941 20230518 RGD DNA:nonsense mutations:exon:172_175del, 3116del, 3256C>T (human) PMID:19264984|REF_RGD_ID:2325776 12427050 PALB2 partner and localizer of BRCA2 gene DOID:1798 pancreatic endocrine carcinoma ISO RGD:1605949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas PMID:25741868 12427050 PALB2 partner and localizer of BRCA2 gene DOID:2394 ovarian cancer ISO RGD:1605949 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:17200668|PMID:17287723|PMID:18288683|PMID:18302019|PMID:18446436|PMID:19333784|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21165770|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23448497|PMID:23824750|PMID:23935836|PMID:24033266|PMID:24206657|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25741868|PMID:26283626|PMID:26467025|PMID:26689913|PMID:27616075|PMID:27930734|PMID:28492532|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28873162|PMID:29052111|PMID:29387807|PMID:29522266|PMID:30287823|PMID:31159747|PMID:31422574|PMID:31636395|PMID:31757951|PMID:32658311|PMID:32659497|PMID:33139182|PMID:33195396|PMID:33309985|PMID:33471991 12427050 PALB2 partner and localizer of BRCA2 gene DOID:2513 basal cell carcinoma ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:25741868|PMID:27878467|PMID:28135048|PMID:28423363|PMID:28492532|PMID:28779002|PMID:32339256|PMID:32566746 12427050 PALB2 partner and localizer of BRCA2 gene DOID:2871 endometrial carcinoma ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:17200668|PMID:20091115|PMID:21285249|PMID:21365267|PMID:22241545|PMID:22692731|PMID:25186627|PMID:25356972|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26689913|PMID:26692951|PMID:26898890|PMID:28440294|PMID:28492532|PMID:28580595|PMID:28767289|PMID:28779002|PMID:30287823|PMID:31636395|PMID:32068069|PMID:32566746|PMID:32659497|PMID:33113089|PMID:33471991|PMID:33588785 12427050 PALB2 partner and localizer of BRCA2 gene DOID:3302 chordoma ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chordoma PMID:25741868|PMID:26283626|PMID:26315354|PMID:27106063|PMID:27443514|PMID:28492532|PMID:28779002|PMID:29522266|PMID:30303537|PMID:30680046|PMID:31636395|PMID:32546565|PMID:33471991 12427050 PALB2 partner and localizer of BRCA2 gene DOID:3459 breast carcinoma ISO RGD:1605949 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:18987736|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:21165770|PMID:21285249|PMID:21365267|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:23448497|PMID:23555315|PMID:23824750|PMID:23935836|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26564480|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26878173|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28709830|PMID:29052111|PMID:29478780|PMID:29625052|PMID:30086788|PMID:30113427|PMID:30833416|PMID:31159747|PMID:31312277|PMID:31570822|PMID:31586400|PMID:31636395|PMID:31757951|PMID:32295079|PMID:32546565|PMID:32554798|PMID:32658311|PMID:32853339|PMID:32885271|PMID:32997802|PMID:33674644|PMID:33964450 12427050 PALB2 partner and localizer of BRCA2 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1605949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary thyroid carcinoma PMID:25741868|PMID:28492532 12427050 PALB2 partner and localizer of BRCA2 gene DOID:4001 ovarian carcinoma ISO RGD:1605949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:25741868 12427050 PALB2 partner and localizer of BRCA2 gene DOID:4606 bile duct cancer ISO RGD:1605949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:25741868|PMID:26467025|PMID:28492532|PMID:30287823 12427050 PALB2 partner and localizer of BRCA2 gene DOID:4851 pilocytic astrocytoma ISO RGD:1605949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pilocytic astrocytoma PMID:25741868|PMID:26283626|PMID:28492532|PMID:28664506|PMID:32546565 12427050 PALB2 partner and localizer of BRCA2 gene DOID:4905 pancreatic carcinoma ISO RGD:1605949 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:17200668|PMID:17200671|PMID:17200672|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:21165770|PMID:21285249|PMID:21365267|PMID:24061862|PMID:24136930|PMID:24415441|PMID:25099575|PMID:25186627|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25959805|PMID:26083025|PMID:26270727|PMID:26467025|PMID:26689913|PMID:26720728|PMID:26845104|PMID:27038244|PMID:27099641|PMID:27106063|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28709830|PMID:29052111|PMID:29478780|PMID:29625052|PMID:30086788|PMID:30113427|PMID:30833416|PMID:31159747|PMID:31312277|PMID:31570822|PMID:32295079|PMID:32546565|PMID:32554798|PMID:32853339|PMID:32885271|PMID:32997802|PMID:33674644 12427050 PALB2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19423707|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28166811|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32854451|PMID:33134171|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:9536098 12427050 PALB2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32854451|PMID:33134171|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:9536098 12427050 PALB2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:9536098 12427050 PALB2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:35806449|PMID:9536098 12427050 PALB2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:35264596|PMID:35806449|PMID:9536098 12427050 PALB2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32581362|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:35264596|PMID:35806449|PMID:9536098 12427050 PALB2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30833416|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31447099|PMID:31467304|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33964450|PMID:34113003|PMID:35264596|PMID:35806449|PMID:9536098 12427050 PALB2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33674644|PMID:33917078|PMID:33964450|PMID:34113003|PMID:35264596|PMID:35806449|PMID:9536098 12427050 PALB2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:28051113|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428676|PMID:31447099|PMID:31467304|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806 12427050 PALB2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33674644|PMID:33917078|PMID:33964450|PMID:34113003|PMID:35264596|PMID:35806449|PMID:36988593|PMID:9536098 12427050 PALB2 partner and localizer of BRCA2 gene DOID:5889 anaplastic ependymoma ISO RGD:1605949 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anaplastic ependymoma PMID:21285249|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27616075|PMID:28492532|PMID:28678401|PMID:31636395|PMID:33471991 12427050 PALB2 partner and localizer of BRCA2 gene DOID:630 genetic disease ISO RGD:1605949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12427050 PALB2 partner and localizer of BRCA2 gene DOID:6741 bilateral breast cancer ISO RGD:1605949 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: bilateral breast cancer PMID:20852946|PMID:22692731|PMID:24448499|PMID:24556926|PMID:25186627|PMID:25479140|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26564480|PMID:26898890|PMID:27878467|PMID:28492532|PMID:28779002|PMID:28944238|PMID:29522266|PMID:30306255|PMID:31206626|PMID:31451522|PMID:31512090|PMID:31757951|PMID:32658311|PMID:33195396|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33980423 12427050 PALB2 partner and localizer of BRCA2 gene DOID:768 retinoblastoma ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:23555315|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28873162|PMID:32832836|PMID:32868316 12427050 PALB2 partner and localizer of BRCA2 gene DOID:9002089 Tumor Predisposition Syndrome 1 ISO RGD:1605949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:24763289|PMID:25099575|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27433846|PMID:28492532 12427050 PALB2 partner and localizer of BRCA2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12427050 PALB2 partner and localizer of BRCA2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1605949 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:25741868|PMID:28492532 12427050 PALB2 partner and localizer of BRCA2 gene DOID:9004268 Uterine Neoplasms ISO RGD:1605949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neoplasm of uterus PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:25741868|PMID:27553368|PMID:28492532 12427050 PALB2 partner and localizer of BRCA2 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1605949 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Triple-negative breast cancer PMID:25575445|PMID:25741868|PMID:26328243|PMID:26467025|PMID:28492532|PMID:31757951|PMID:33471991|PMID:35263119 12427050 PALB2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763819|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22194698|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22895193|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23334666|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23934836|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25326637|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25636233|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26845104|PMID:26848151|PMID:26878173|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27093186|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27648926|PMID:27779110|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28024868|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28166811|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29101607|PMID:29190888|PMID:29212164|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29430632|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30447919|PMID:30521987|PMID:30613976|PMID:30630526|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30883245|PMID:30890586|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711 12427050 PALB2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31263054|PMID:31300551|PMID:31382929|PMID:31422574|PMID:31428572|PMID:31447099|PMID:31467304|PMID:31470354|PMID:31481248|PMID:31512090|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31921681|PMID:31942411|PMID:32019277|PMID:32039725|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32521533|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:33113089|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33298767|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33811135|PMID:33910496|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34113003|PMID:34196900|PMID:34284872|PMID:9536098 12427050 PALB2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763819|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20600922|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22193777|PMID:22194698|PMID:22204421|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22895193|PMID:22980975|PMID:22995991|PMID:23021409|PMID:23110154|PMID:23302520|PMID:23334666|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23934836|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:241536|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25326637|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25619955|PMID:25636233|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26110843|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26845104|PMID:26848151|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27093186|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27648926|PMID:27701467|PMID:27779110|PMID:27783279|PMID:27798748|PMID:27803004|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28024868|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28524162|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28637618|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28821472|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29025590|PMID:29052111|PMID:29093764|PMID:29101607|PMID:29190888|PMID:29212164|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29430632|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29555771|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29982661|PMID:30014022|PMID:30067863|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30257646|PMID:30287823 12427050 PALB2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30289697|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30377213|PMID:3040479|PMID:30410870|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30521987|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30975761|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31360874|PMID:31382929|PMID:31413733|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31470354|PMID:31481248|PMID:31512090|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31871297|PMID:31911633|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32019277|PMID:32039725|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32408270|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32728620|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32884827|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33298767|PMID:33309985|PMID:33332384|PMID:33384714|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34196900|PMID:34284872|PMID:34359559|PMID:34371384|PMID:34382369|PMID:34846068|PMID:34946951|PMID:35089076|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35806449|PMID:35853885|PMID:9536098 12427050 PALB2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763819|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20600922|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22193777|PMID:22194698|PMID:22204421|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22895193|PMID:22980975|PMID:22995991|PMID:23021409|PMID:23110154|PMID:23302520|PMID:23334666|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23934836|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:241536|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25619955|PMID:25636233|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26110843|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26845104|PMID:26848151|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27093186|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27648926|PMID:27701467|PMID:27779110|PMID:27783279|PMID:27798748|PMID:27803004|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28024868|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28524162|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28637618|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28821472|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29025590|PMID:29052111|PMID:29093764|PMID:29101607|PMID:29190888|PMID:29212164|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29430632|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29555771|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29982661|PMID:30014022|PMID:30067863|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30257646|PMID:30287823|PMID:30289697 12427050 PALB2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30377213|PMID:3040479|PMID:30410870|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30521987|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30975761|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31360874|PMID:31382929|PMID:31413733|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31470354|PMID:31481248|PMID:31512090|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31871297|PMID:31911633|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32019277|PMID:32039725|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32408270|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32728620|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32884827|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33298767|PMID:33309985|PMID:33332384|PMID:33384714|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34196900|PMID:34284872|PMID:34359559|PMID:34371384|PMID:34382369|PMID:34846068|PMID:34917121|PMID:34946951|PMID:35089076|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35806449|PMID:35853885|PMID:36988593|PMID:9536098 12427050 PALB2 partner and localizer of BRCA2 gene DOID:9008939 Breast Neoplasms ISO RGD:1605949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:17200668|PMID:17200671|PMID:17200672|PMID:24033266|PMID:24136930|PMID:24448499|PMID:24556926|PMID:25099575|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26845104|PMID:27624329|PMID:28492532|PMID:28724667|PMID:29566657|PMID:29752822|PMID:29945567|PMID:30322717|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31844177|PMID:32339256|PMID:32566746 12427050 PALB2 partner and localizer of BRCA2 gene DOID:9008939 Breast Neoplasms ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:17200668|PMID:17200671|PMID:17200672|PMID:24033266|PMID:24136930|PMID:24448499|PMID:24556926|PMID:25099575|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26845104|PMID:27624329|PMID:28492532|PMID:28724667|PMID:29566657|PMID:29752822|PMID:29922827|PMID:29945567|PMID:30322717|PMID:30982232|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31844177|PMID:32068069|PMID:32339256|PMID:32566746|PMID:33193564 12427050 PALB2 partner and localizer of BRCA2 gene DOID:9008939 Breast Neoplasms ISO RGD:1605949 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:17200668|PMID:17200671|PMID:17200672|PMID:24033266|PMID:24136930|PMID:24448499|PMID:24556926|PMID:25099575|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26845104|PMID:27624329|PMID:28492532|PMID:28724667|PMID:29566657|PMID:29752822|PMID:29922827|PMID:29945567|PMID:30322717|PMID:30720863|PMID:30982232|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31844177|PMID:32068069|PMID:32339256|PMID:32566746|PMID:33193564|PMID:36988593 12427050 PALB2 partner and localizer of BRCA2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1605949 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19383810|PMID:19423707|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763152|PMID:19763819|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20307669|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22194698|PMID:22241545|PMID:22310028|PMID:22331464|PMID:22406018|PMID:22692731|PMID:22895193|PMID:22980975|PMID:22995991|PMID:23021409|PMID:23110154|PMID:23302520|PMID:23334666|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23934836|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:241536|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24982446|PMID:24998779|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25619955|PMID:25636233|PMID:25637381|PMID:25640679|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26110843|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26845104|PMID:26845227|PMID:26848151|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27093186|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27648926|PMID:27701467|PMID:27757719|PMID:27779110|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28024868|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28524162|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28821472|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29052111|PMID:29093764|PMID:29101607|PMID:29190888|PMID:29212164|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29430632|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29555771|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29982661|PMID:30014022|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30113427|PMID:30128536 12427050 PALB2 partner and localizer of BRCA2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1605949 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:30254378|PMID:30255452|PMID:30257646|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30377213|PMID:3040479|PMID:30410870|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30521987|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30975761|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31060593|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31360874|PMID:31382929|PMID:31413733|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31470354|PMID:31481248|PMID:31512090|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31871297|PMID:31911633|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32019277|PMID:32039725|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32408270|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32728620|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32884827|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33224012|PMID:33298767|PMID:33309985|PMID:33332384|PMID:33384714|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33674644|PMID:33718150|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34196900|PMID:34284872|PMID:34359559|PMID:34371384|PMID:34382369|PMID:34846068|PMID:34917121|PMID:34946951|PMID:35089076|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35806449|PMID:35853885|PMID:36988593|PMID:7200671|PMID:9536098 12427050 PALB2 partner and localizer of BRCA2 gene DOID:9256 colorectal cancer ISO RGD:1605949 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:17420451|PMID:19264984|PMID:23341105|PMID:25099575|PMID:25741868|PMID:26467025|PMID:28492532 12427050 PALB2 partner and localizer of BRCA2 gene DOID:9256 colorectal cancer ISO RGD:1605949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:17200668|PMID:17200671|PMID:17200672|PMID:17420451|PMID:19264984|PMID:23341105|PMID:24136930|PMID:25099575|PMID:25741868|PMID:26467025|PMID:28492532 12427050 PALB2 partner and localizer of BRCA2 gene DOID:9460 uterine corpus cancer ISO RGD:1605949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:28492532 12427067 LOC609800 CMRF35-like molecule 6 gene DOID:630 genetic disease ISO RGD:1349208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427077 NAT14 N-acetyltransferase 14 (putative) gene DOID:630 genetic disease ISO RGD:1601749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427087 SIT1 signaling threshold regulating transmembrane adaptor 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1601761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12427087 SIT1 signaling threshold regulating transmembrane adaptor 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1601761 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12427087 SIT1 signaling threshold regulating transmembrane adaptor 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:1601761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12427087 SIT1 signaling threshold regulating transmembrane adaptor 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1601761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12427087 SIT1 signaling threshold regulating transmembrane adaptor 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1601761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12427087 SIT1 signaling threshold regulating transmembrane adaptor 1 gene DOID:630 genetic disease ISO RGD:1601761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427087 SIT1 signaling threshold regulating transmembrane adaptor 1 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1601761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12427087 SIT1 signaling threshold regulating transmembrane adaptor 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1601761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12427087 SIT1 signaling threshold regulating transmembrane adaptor 1 gene DOID:9870 galactosemia ISO RGD:1601761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12427096 UNC93A unc-93 homolog A gene DOID:630 genetic disease ISO RGD:1343732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427110 MBOAT4 membrane bound O-acyltransferase domain containing 4 gene DOID:630 genetic disease ISO RGD:1602605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427117 C27H12orf40 chromosome 27 C12orf40 homolog gene DOID:630 genetic disease ISO RGD:1606924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427147 CREG1 cellular repressor of E1A stimulated genes 1 gene DOID:0080600 COVID-19 ISO RGD:1348156 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12427147 CREG1 cellular repressor of E1A stimulated genes 1 gene DOID:0111942 immunodeficiency 25 ISO RGD:1348156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 12427147 CREG1 cellular repressor of E1A stimulated genes 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1348156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12427147 CREG1 cellular repressor of E1A stimulated genes 1 gene DOID:630 genetic disease ISO RGD:1348156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427147 CREG1 cellular repressor of E1A stimulated genes 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12427147 CREG1 cellular repressor of E1A stimulated genes 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12427147 CREG1 cellular repressor of E1A stimulated genes 1 gene DOID:9775 diastolic heart failure ISO RGD:1348156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 12427154 ZNF770 zinc finger protein 770 gene DOID:2717 Bloom syndrome ISO RGD:1606270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12427154 ZNF770 zinc finger protein 770 gene DOID:630 genetic disease ISO RGD:1606270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427154 ZNF770 zinc finger protein 770 gene DOID:9256 colorectal cancer ISO RGD:1606270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12427166 POGLUT2 protein O-glucosyltransferase 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1312273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:28492532 12427166 POGLUT2 protein O-glucosyltransferase 2 gene DOID:14701 propionic acidemia ISO RGD:1312273 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 12427166 POGLUT2 protein O-glucosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1312273 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427166 POGLUT2 protein O-glucosyltransferase 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1312273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12427166 POGLUT2 protein O-glucosyltransferase 2 gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:1312273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 12427189 HORMAD1 HORMA domain containing 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1346134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12427189 HORMAD1 HORMA domain containing 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1346134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12427189 HORMAD1 HORMA domain containing 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1346134 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12427189 HORMAD1 HORMA domain containing 1 gene DOID:12336 male infertility ISO RGD:1346134 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Male infertility PMID:25741868 12427189 HORMAD1 HORMA domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1346134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12427189 HORMAD1 HORMA domain containing 1 gene DOID:5812 MHC class II deficiency ISO RGD:1346134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12427189 HORMAD1 HORMA domain containing 1 gene DOID:630 genetic disease ISO RGD:1346134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427189 HORMAD1 HORMA domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12427210 SIDT2 SID1 transmembrane family member 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 12427210 SIDT2 SID1 transmembrane family member 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12427210 SIDT2 SID1 transmembrane family member 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1623819 D RGD:9068941 20220825 MouseDO OMIM:613282 | OMIM:613387 12427210 SIDT2 SID1 transmembrane family member 2 gene DOID:0080690 RASopathy ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12427210 SIDT2 SID1 transmembrane family member 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 12427210 SIDT2 SID1 transmembrane family member 2 gene DOID:0111123 nephronophthisis 15 ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 12427210 SIDT2 SID1 transmembrane family member 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 12427210 SIDT2 SID1 transmembrane family member 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 12427210 SIDT2 SID1 transmembrane family member 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 12427210 SIDT2 SID1 transmembrane family member 2 gene DOID:1059 intellectual disability ISO RGD:1351240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12427210 SIDT2 SID1 transmembrane family member 2 gene DOID:630 genetic disease ISO RGD:1351240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427210 SIDT2 SID1 transmembrane family member 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12427210 SIDT2 SID1 transmembrane family member 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1351240 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 12427210 SIDT2 SID1 transmembrane family member 2 gene DOID:9007661 Dwarfism ISO RGD:1351240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12427319 UGGT1 UDP-glucose glycoprotein glucosyltransferase 1 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1343925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 12427319 UGGT1 UDP-glucose glycoprotein glucosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1343925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427364 NDRG3 NDRG family member 3 gene DOID:2234 focal epilepsy ISO RGD:1315300 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12427364 NDRG3 NDRG family member 3 gene DOID:630 genetic disease ISO RGD:1315300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427402 BUD13 BUD13 homolog gene DOID:1059 intellectual disability ISO RGD:1606207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12427402 BUD13 BUD13 homolog gene DOID:630 genetic disease ISO RGD:1606207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427402 BUD13 BUD13 homolog gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12427402 BUD13 BUD13 homolog gene DOID:9007661 Dwarfism ISO RGD:1606207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12427420 LOC479761 monocyte to macrophage differentiation factor 2 gene DOID:11372 megacolon ISO RGD:1604337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12427420 LOC479761 monocyte to macrophage differentiation factor 2 gene DOID:630 genetic disease ISO RGD:1604337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427477 FAM20A FAM20A golgi associated secretory pathway pseudokinase gene DOID:0050471 Carney complex ISO RGD:1314939 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Carney complex | ClinVar Annotator: match by term: Carney complex, type 1 PMID:11115848|PMID:19293268|PMID:24170103|PMID:28492532 12427477 FAM20A FAM20A golgi associated secretory pathway pseudokinase gene DOID:0110066 amelogenesis imperfecta type 1G ISO RGD:1314939 D RGD:7240710 20180130 OMIM 12427477 FAM20A FAM20A golgi associated secretory pathway pseudokinase gene DOID:0110066 amelogenesis imperfecta type 1G ISO RGD:1314939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G PMID:18597613|PMID:21549343|PMID:21990045|PMID:23434854|PMID:23468644|PMID:24196488|PMID:25741868|PMID:28086997|PMID:28492532|PMID:32246227 12427477 FAM20A FAM20A golgi associated secretory pathway pseudokinase gene DOID:14669 acrodysostosis ISO RGD:1314939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrodysostosis PMID:28492532 12427477 FAM20A FAM20A golgi associated secretory pathway pseudokinase gene DOID:630 genetic disease ISO RGD:1314939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12427477 FAM20A FAM20A golgi associated secretory pathway pseudokinase gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1314939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12427477 FAM20A FAM20A golgi associated secretory pathway pseudokinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314939 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 12427491 FAM32A family with sequence similarity 32 member A gene DOID:630 genetic disease ISO RGD:1316761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427504 ZYX zyxin gene DOID:630 genetic disease ISO RGD:1347879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427504 ZYX zyxin gene DOID:9008443 Colorectal Neoplasms ISO RGD:1347879 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30697742 12427517 LOC485221 olfactory receptor 52M1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1349652 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12427517 LOC485221 olfactory receptor 52M1 gene DOID:630 genetic disease ISO RGD:1349652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427518 FBXO21 F-box protein 21 gene DOID:630 genetic disease ISO RGD:1316490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427518 FBXO21 F-box protein 21 gene DOID:9004657 Weight Gain ISO RGD:1316490 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12427539 GMEB1 glucocorticoid modulatory element binding protein 1 gene DOID:630 genetic disease ISO RGD:1603227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427564 MAN2B2 mannosidase alpha class 2B member 2 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1318845 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:31775018 12427564 MAN2B2 mannosidase alpha class 2B member 2 gene DOID:630 genetic disease ISO RGD:1318845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427565 XRCC4 X-ray repair cross complementing 4 gene DOID:0050904 salivary gland carcinoma sexual_dimorphism ISO RGD:1353234 D RGD:9068941 20220303 RGD DNA:SNP:intron: (rs13180356) (human) PMID:26035306|REF_RGD_ID:151361290 12427565 XRCC4 X-ray repair cross complementing 4 gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:1353234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary dwarfism 1 PMID:24389050|PMID:25558065|PMID:25728776|PMID:25741868|PMID:26255102 12427565 XRCC4 X-ray repair cross complementing 4 gene DOID:4866 salivary gland adenoid cystic carcinoma susceptibility ISO RGD:1353234 D RGD:9068941 20220303 RGD DNA:SNP:intron: (rs13180356) (human) PMID:26035306|REF_RGD_ID:151361290 12427565 XRCC4 X-ray repair cross complementing 4 gene DOID:630 genetic disease ISO RGD:1353234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427565 XRCC4 X-ray repair cross complementing 4 gene DOID:9002620 SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION ISO RGD:1353234 D RGD:7240710 20180130 OMIM 12427565 XRCC4 X-ray repair cross complementing 4 gene DOID:9002620 SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION ISO RGD:1353234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature, microcephaly, and endocrine dysfunction PMID:18695064|PMID:24033266|PMID:24389050|PMID:25558065|PMID:25728776|PMID:25741868|PMID:25742519|PMID:25839420|PMID:25872942|PMID:26255102|PMID:26822949|PMID:28492532 12427565 XRCC4 X-ray repair cross complementing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12427565 XRCC4 X-ray repair cross complementing 4 gene DOID:9004814 Chromosome Aberrations ISO RGD:1353234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20726224 12427565 XRCC4 X-ray repair cross complementing 4 gene DOID:9538 multiple myeloma susceptibility ISO RGD:1353234 D RGD:9068941 20200609 RGD DNA:SNPs:multiple (human) PMID:17901044|REF_RGD_ID:8698655 12427596 KRT10 keratin 10 gene DOID:161 keratosis ISO RGD:1354394 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35363433 12427596 KRT10 keratin 10 gene DOID:1749 squamous cell carcinoma ISO RGD:1354394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 12427596 KRT10 keratin 10 gene DOID:2773 contact dermatitis ISO RGD:1354394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12427596 KRT10 keratin 10 gene DOID:4323 epidermolytic acanthoma ISO RGD:1354394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolytic acanthoma PMID:1381287|PMID:21271994|PMID:22930352|PMID:25741868|PMID:26176760|PMID:28492532|PMID:28532675|PMID:32045015|PMID:7508181|PMID:7509230|PMID:7512983 12427596 KRT10 keratin 10 gene DOID:4603 epidermolytic hyperkeratosis IAGP D RGD:12801476 20210603 OMIA Hyperkeratosis, epidermolytic PMID:16029326|PMID:10805985|PMID:15053927|PMID:15946235 12427596 KRT10 keratin 10 gene DOID:4603 epidermolytic hyperkeratosis ISO RGD:1354394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma PMID:1380725|PMID:1381287|PMID:16505000|PMID:19474805|PMID:20302579|PMID:21271994|PMID:2182100|PMID:22930352|PMID:24001792|PMID:25741868|PMID:26176760|PMID:28492532|PMID:28532675|PMID:32045015|PMID:7508181|PMID:7509230|PMID:7512983|PMID:7526210 12427596 KRT10 keratin 10 gene DOID:4603 epidermolytic hyperkeratosis susceptibility ISO RGD:1354394 D RGD:9068941 20200609 RGD DNA:mutations:cds: p.R156C (human) PMID:7512983|REF_RGD_ID:1600168 12427596 KRT10 keratin 10 gene DOID:630 genetic disease ISO RGD:1354394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12427596 KRT10 keratin 10 gene DOID:9000839 Ichthyosis Hystrix Gravior ISO RGD:1354394 D RGD:7240710 20221214 OMIM 12427596 KRT10 keratin 10 gene DOID:9004068 Epidermolytic Hyperkeratosis 2 ISO RGD:1354394 D RGD:7240710 20230517 OMIM 12427596 KRT10 keratin 10 gene DOID:9004464 Skin Neoplasms ISO RGD:1354394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 12427596 KRT10 keratin 10 gene DOID:9004887 Annular Epidermolytic Ichthyosis 1 ISO RGD:1354394 D RGD:7240710 20180130 OMIM 12427596 KRT10 keratin 10 gene DOID:9005778 Annular Epidermolytic Ichthyosis ISO RGD:1354394 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Annular epidermolytic ichthyosis PMID:22035476|PMID:25741868|PMID:28492532 12427596 KRT10 keratin 10 gene DOID:9006224 Reticular Erythrokeratoderma ISO RGD:1354394 D RGD:7240710 20180130 OMIM 12427596 KRT10 keratin 10 gene DOID:9006224 Reticular Erythrokeratoderma ISO RGD:1354394 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital reticular ichthyosiform erythroderma PMID:20798280|PMID:25210931|PMID:25741868|PMID:27208707|PMID:27291450|PMID:28492532|PMID:31638346|PMID:32407542|PMID:34008892|PMID:9418775 12427596 KRT10 keratin 10 gene DOID:9007964 Arsenic Poisoning ISO RGD:1354394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19953893 12427613 CYBB cytochrome b-245 beta chain gene DOID:0050073 invasive aspergillosis ISO RGD:733265 D RGD:9068941 20200609 RGD PMID:24054721|REF_RGD_ID:10450528 12427613 CYBB cytochrome b-245 beta chain gene DOID:0050855 renal fibrosis ISO RGD:1350492 D RGD:9068941 20200609 RGD associated with liver transplant;protein:increased expression:kidney: PMID:22568654|REF_RGD_ID:11040697 12427613 CYBB cytochrome b-245 beta chain gene DOID:0050855 renal fibrosis treatment ISO RGD:620574 D RGD:9068941 20200609 RGD PMID:22568654|REF_RGD_ID:11040697 12427613 CYBB cytochrome b-245 beta chain gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12427613 CYBB cytochrome b-245 beta chain gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1350492 D RGD:7240710 20180130 OMIM 12427613 CYBB cytochrome b-245 beta chain gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1350492 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked | ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked, variant PMID:10068684|PMID:10089913|PMID:10627478|PMID:10828042|PMID:10914676|PMID:10980575|PMID:11112388|PMID:11162142|PMID:11413138|PMID:11435314|PMID:11462241|PMID:11566256|PMID:11700292|PMID:11997083|PMID:12094329|PMID:12139950|PMID:12589359|PMID:1347621|PMID:1438069|PMID:14697745|PMID:15082894|PMID:1520880|PMID:15338276|PMID:15454837|PMID:16199547|PMID:1710153|PMID:1719419|PMID:17576211|PMID:17576681|PMID:18322777|PMID:18509647|PMID:18546332|PMID:18708296|PMID:18762975|PMID:18773283|PMID:19410294|PMID:19483051|PMID:20228266|PMID:20540864|PMID:20724480|PMID:20729109|PMID:21190454|PMID:21604087|PMID:21659519|PMID:22125116|PMID:22540226|PMID:22562447|PMID:22876374|PMID:22924696|PMID:22924737|PMID:22929960|PMID:23193493|PMID:23859418|PMID:23910690|PMID:23956436|PMID:24276928|PMID:24943880|PMID:24999735|PMID:2523713|PMID:25252997|PMID:25525159|PMID:2556453|PMID:25666294|PMID:25741868|PMID:26185101|PMID:26453586|PMID:26936803|PMID:27701760|PMID:27853979|PMID:27980538|PMID:28168067|PMID:28251166|PMID:2838754|PMID:28492532|PMID:29018441|PMID:29560547|PMID:29702544|PMID:30237823|PMID:30470980|PMID:30506560|PMID:30633606|PMID:30716179|PMID:31456102|PMID:31813112|PMID:32040803|PMID:33629196|PMID:33717137|PMID:33963972|PMID:34680870|PMID:3600768|PMID:7907031|PMID:8070813|PMID:8101486|PMID:8182143|PMID:8634410|PMID:8655140|PMID:8900212|PMID:8916969|PMID:8961628|PMID:9454688|PMID:9536098|PMID:9585602|PMID:9667376|PMID:9774399|PMID:9794433|PMID:9856476 12427613 CYBB cytochrome b-245 beta chain gene DOID:0070195 X-linked chronic granulomatous disease treatment ISO RGD:1350492 D RGD:9068941 20200609 RGD PMID:12804147|REF_RGD_ID:11040567 12427613 CYBB cytochrome b-245 beta chain gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1350492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 12427613 CYBB cytochrome b-245 beta chain gene DOID:0112000 immunodeficiency 34 ISO RGD:1350492 D RGD:7240710 20180130 OMIM 12427613 CYBB cytochrome b-245 beta chain gene DOID:0112000 immunodeficiency 34 ISO RGD:1350492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency PMID:10089913|PMID:10914676|PMID:11435314|PMID:12139950|PMID:17293536|PMID:17576681|PMID:18546332|PMID:19483051|PMID:21278736|PMID:23193493|PMID:24276928|PMID:25741868|PMID:28492532|PMID:29560547|PMID:30470980|PMID:8634410|PMID:8655140|PMID:8900212|PMID:8916969|PMID:9536098|PMID:9585602 12427613 CYBB cytochrome b-245 beta chain gene DOID:10763 hypertension ISO RGD:1350492 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:16685210|PMID:21593737|PMID:27659729|PMID:27847271|PMID:32147540|PMID:32165127 12427613 CYBB cytochrome b-245 beta chain gene DOID:10763 hypertension ISO RGD:620574 D RGD:9068941 20200609 RGD Protein:increased expression:brain PMID:12472782|REF_RGD_ID:1599685 12427613 CYBB cytochrome b-245 beta chain gene DOID:10825 essential hypertension ISO RGD:1350492 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 12427613 CYBB cytochrome b-245 beta chain gene DOID:12849 autistic disorder ISO RGD:1350492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12427613 CYBB cytochrome b-245 beta chain gene DOID:3265 chronic granulomatous disease ISO RGD:1350492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic granulomatous disease PMID:1347621|PMID:17293536|PMID:18546332|PMID:20729109|PMID:21190454|PMID:21278736|PMID:22924737|PMID:23859418|PMID:24276928|PMID:25741868|PMID:28492532|PMID:29560547|PMID:8634410|PMID:9585602 12427613 CYBB cytochrome b-245 beta chain gene DOID:3454 brain infarction ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19417757 12427613 CYBB cytochrome b-245 beta chain gene DOID:446 primary hyperaldosteronism ISO RGD:620574 D RGD:9068941 20200609 RGD Protein:increased expression:heart ventricle PMID:16373592|REF_RGD_ID:1599681 12427613 CYBB cytochrome b-245 beta chain gene DOID:557 kidney disease ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20116427 12427613 CYBB cytochrome b-245 beta chain gene DOID:576 proteinuria ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20116427 12427613 CYBB cytochrome b-245 beta chain gene DOID:5844 myocardial infarction ISO RGD:620574 D RGD:9068941 20200609 RGD mRNA:increase expression:ventricle myocardium PMID:11243862|REF_RGD_ID:1599690 12427613 CYBB cytochrome b-245 beta chain gene DOID:6000 congestive heart failure ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 12427613 CYBB cytochrome b-245 beta chain gene DOID:630 genetic disease ISO RGD:1350492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1320378|PMID:20724480|PMID:20729109 12427613 CYBB cytochrome b-245 beta chain gene DOID:6432 pulmonary hypertension ISO RGD:733265 D RGD:9068941 20200609 RGD associated with Anoxia PMID:18952568|REF_RGD_ID:4762683 12427613 CYBB cytochrome b-245 beta chain gene DOID:6432 pulmonary hypertension treatment ISO RGD:620574 D RGD:9068941 20200609 RGD PMID:18424632|REF_RGD_ID:4773907 12427613 CYBB cytochrome b-245 beta chain gene DOID:7148 rheumatoid arthritis ISO RGD:1350492 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:24313545 12427613 CYBB cytochrome b-245 beta chain gene DOID:783 end stage renal disease ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 12427613 CYBB cytochrome b-245 beta chain gene DOID:783 end stage renal disease ISO RGD:620574 D RGD:9068941 20200609 RGD PMID:15550752|REF_RGD_ID:1599682 12427613 CYBB cytochrome b-245 beta chain gene DOID:8354 complement component 3 deficiency ISO RGD:1350492 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Complement component 3 deficiency PMID:25741868 12427613 CYBB cytochrome b-245 beta chain gene DOID:9000039 Spinal Cord Injuries ISO RGD:733265 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:microglia: PMID:20679217|REF_RGD_ID:11040629 12427613 CYBB cytochrome b-245 beta chain gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:620574 D RGD:9068941 20200609 RGD Protein:increased expression:cerebral cortex PMID:16671452|REF_RGD_ID:1599680 12427613 CYBB cytochrome b-245 beta chain gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:620574 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral vessel: PMID:12142572|REF_RGD_ID:11040582 12427613 CYBB cytochrome b-245 beta chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12427613 CYBB cytochrome b-245 beta chain gene DOID:9002211 Hyperalgesia ISO RGD:733265 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries; PMID:20679217|REF_RGD_ID:11040629 12427613 CYBB cytochrome b-245 beta chain gene DOID:9002514 Neointima treatment ISO RGD:620574 D RGD:9068941 20200609 RGD PMID:20485380|REF_RGD_ID:11040762 12427613 CYBB cytochrome b-245 beta chain gene DOID:9004009 Reperfusion Injury ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19193722 12427613 CYBB cytochrome b-245 beta chain gene DOID:9004009 Reperfusion Injury ISO RGD:620574 D RGD:9068941 20200609 RGD Protein:increase expression:brain PMID:16766636|REF_RGD_ID:1599677 12427613 CYBB cytochrome b-245 beta chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12427613 CYBB cytochrome b-245 beta chain gene DOID:9005372 Inflammation ISO RGD:733265 D RGD:9068941 20200609 RGD PMID:19234224|REF_RGD_ID:11040576 12427613 CYBB cytochrome b-245 beta chain gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19478208 12427613 CYBB cytochrome b-245 beta chain gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620574 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:11157681|REF_RGD_ID:1599691 12427613 CYBB cytochrome b-245 beta chain gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620574 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex;associated with reperfusion injury PMID:15148062|REF_RGD_ID:1599683 12427613 CYBB cytochrome b-245 beta chain gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19207477 12427613 CYBB cytochrome b-245 beta chain gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:1350492 D RGD:9068941 20210115 RGD mRNA,protein:increased expression:mucosa of stomach (human) PMID:27048452|REF_RGD_ID:40924640 12427613 CYBB cytochrome b-245 beta chain gene DOID:9074 systemic lupus erythematosus ISO RGD:733265 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12427613 CYBB cytochrome b-245 beta chain gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1350492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16786505|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 12427613 CYBB cytochrome b-245 beta chain gene DOID:9351 diabetes mellitus ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23723366 12427613 CYBB cytochrome b-245 beta chain gene DOID:9562 primary ciliary dyskinesia ISO RGD:1350492 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12427628 AP2M1 adaptor related protein complex 2 subunit mu 1 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1350921 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12427628 AP2M1 adaptor related protein complex 2 subunit mu 1 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1350921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12427628 AP2M1 adaptor related protein complex 2 subunit mu 1 gene DOID:0111546 Currarino syndrome ISO RGD:1350921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12427628 AP2M1 adaptor related protein complex 2 subunit mu 1 gene DOID:12849 autistic disorder ISO RGD:1350921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:28492532|PMID:31104773 12427628 AP2M1 adaptor related protein complex 2 subunit mu 1 gene DOID:630 genetic disease ISO RGD:1350921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12427628 AP2M1 adaptor related protein complex 2 subunit mu 1 gene DOID:9000911 Autosomal Dominant Intellectual Developmental Disorder 60 ISO RGD:1350921 D RGD:7240710 20191002 OMIM 12427628 AP2M1 adaptor related protein complex 2 subunit mu 1 gene DOID:9000911 Autosomal Dominant Intellectual Developmental Disorder 60 ISO RGD:1350921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder 60 with seizures PMID:25741868|PMID:28492532|PMID:31104773 12427628 AP2M1 adaptor related protein complex 2 subunit mu 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12427647 LOC610164 carbonyl reductase [NADPH] 1 gene DOID:0050700 cardiomyopathy ISO RGD:737546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11016643 12427647 LOC610164 carbonyl reductase [NADPH] 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737546 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12427647 LOC610164 carbonyl reductase [NADPH] 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:737546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12427647 LOC610164 carbonyl reductase [NADPH] 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:737546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12427647 LOC610164 carbonyl reductase [NADPH] 1 gene DOID:0080600 COVID-19 ISO RGD:737546 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12427647 LOC610164 carbonyl reductase [NADPH] 1 gene DOID:1588 thrombocytopenia ISO RGD:737546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 12427647 LOC610164 carbonyl reductase [NADPH] 1 gene DOID:2772 irritant dermatitis ISO RGD:737546 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25818598 12427647 LOC610164 carbonyl reductase [NADPH] 1 gene DOID:630 genetic disease ISO RGD:737546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427647 LOC610164 carbonyl reductase [NADPH] 1 gene DOID:684 hepatocellular carcinoma ISO RGD:737546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21056497 12427647 LOC610164 carbonyl reductase [NADPH] 1 gene DOID:783 end stage renal disease ISO RGD:737546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26282591 12427647 LOC610164 carbonyl reductase [NADPH] 1 gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:737546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 12427647 LOC610164 carbonyl reductase [NADPH] 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12427647 LOC610164 carbonyl reductase [NADPH] 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:737546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21056497 12427647 LOC610164 carbonyl reductase [NADPH] 1 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:737546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy PMID:25741868|PMID:34355501 12427658 DIO3 iodothyronine deiodinase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:68623 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 12427658 DIO3 iodothyronine deiodinase 3 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:68623 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12427658 DIO3 iodothyronine deiodinase 3 gene DOID:6000 congestive heart failure ISO RGD:68420 D RGD:9068941 20200609 RGD associated with Hypertrophy, Right Ventricular;mRNA, protein:increased expression:heart right ventricle PMID:18259611|REF_RGD_ID:2303417 12427658 DIO3 iodothyronine deiodinase 3 gene DOID:630 genetic disease ISO RGD:68623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427658 DIO3 iodothyronine deiodinase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:68623 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26825960 12427658 DIO3 iodothyronine deiodinase 3 gene DOID:9008939 Breast Neoplasms ISO RGD:68623 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 12427732 OR5T2 olfactory receptor family 5 subfamily T member 2 gene DOID:1059 intellectual disability ISO RGD:1347254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12427732 OR5T2 olfactory receptor family 5 subfamily T member 2 gene DOID:630 genetic disease ISO RGD:1347254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427738 SLC2A4 solute carrier family 2 member 4 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:731478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 12427738 SLC2A4 solute carrier family 2 member 4 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:731478 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12427738 SLC2A4 solute carrier family 2 member 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:731478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:1397719|PMID:1918382|PMID:7814014 12427738 SLC2A4 solute carrier family 2 member 4 gene DOID:1059 intellectual disability ISO RGD:731478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12427738 SLC2A4 solute carrier family 2 member 4 gene DOID:10652 Alzheimer's disease ISO RGD:731478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24055495 12427738 SLC2A4 solute carrier family 2 member 4 gene DOID:12177 common variable immunodeficiency ISO RGD:731478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 12427738 SLC2A4 solute carrier family 2 member 4 gene DOID:2729 dyskeratosis congenita ISO RGD:731478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 12427738 SLC2A4 solute carrier family 2 member 4 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:731478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 12427738 SLC2A4 solute carrier family 2 member 4 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:731478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 12427738 SLC2A4 solute carrier family 2 member 4 gene DOID:6000 congestive heart failure severity ISO RGD:731478 D RGD:9068941 20200609 RGD protein:decreased expression:skeletal muscle PMID:18778861|REF_RGD_ID:2313624 12427738 SLC2A4 solute carrier family 2 member 4 gene DOID:630 genetic disease ISO RGD:731478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427738 SLC2A4 solute carrier family 2 member 4 gene DOID:6432 pulmonary hypertension ISO RGD:2711 D RGD:9068941 20200609 RGD PMID:19043358|REF_RGD_ID:2313622 12427738 SLC2A4 solute carrier family 2 member 4 gene DOID:9003936 Cardiomegaly ISO RGD:731478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22221582 12427738 SLC2A4 solute carrier family 2 member 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2711 D RGD:9068941 20200609 RGD PMID:19252289|REF_RGD_ID:2313621 12427738 SLC2A4 solute carrier family 2 member 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11947963|PMID:14563825|PMID:18266981|PMID:22138235 12427738 SLC2A4 solute carrier family 2 member 4 gene DOID:9007692 Insulin Resistance ISO RGD:731478 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11947963 12427738 SLC2A4 solute carrier family 2 member 4 gene DOID:9007692 Insulin Resistance ISO RGD:731478 D RGD:9068941 20200609 RGD associated with Heart Failure, Congestive;protein:decreased expression:skeletal muscle PMID:18778861|REF_RGD_ID:2313624 12427738 SLC2A4 solute carrier family 2 member 4 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2711 D RGD:9068941 20200609 RGD PMID:10336852|REF_RGD_ID:12879857 12427738 SLC2A4 solute carrier family 2 member 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:1397719|PMID:1918382|PMID:7814014 12427756 MT4 metallothionein 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343695 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12427756 MT4 metallothionein 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343695 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12427756 MT4 metallothionein 4 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1343695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12427756 MT4 metallothionein 4 gene DOID:557 kidney disease ISO RGD:1343695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19921116 12427756 MT4 metallothionein 4 gene DOID:630 genetic disease ISO RGD:1343695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427756 MT4 metallothionein 4 gene DOID:9008914 Lead Poisoning ISO RGD:1343695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19921116 12427763 CEP57L1 centrosomal protein 57 like 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1347020 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 12427763 CEP57L1 centrosomal protein 57 like 1 gene DOID:630 genetic disease ISO RGD:1347020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427789 NTN4 netrin 4 gene DOID:10283 prostate cancer ISO RGD:1348678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12427789 NTN4 netrin 4 gene DOID:630 genetic disease ISO RGD:1348678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427803 MBOAT2 membrane bound O-acyltransferase domain containing 2 gene DOID:630 genetic disease ISO RGD:1314050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427803 MBOAT2 membrane bound O-acyltransferase domain containing 2 gene DOID:9005369 Hepatomegaly ISO RGD:1314050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12427821 TPRKB TP53RK binding protein gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1603050 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12427821 TPRKB TP53RK binding protein gene DOID:0080247 Galloway-Mowat syndrome 5 ISO RGD:1603050 D RGD:7240710 20190315 OMIM 12427821 TPRKB TP53RK binding protein gene DOID:0080247 Galloway-Mowat syndrome 5 ISO RGD:1603050 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 5 PMID:25741868|PMID:28492532|PMID:28805828|PMID:29127259 12427821 TPRKB TP53RK binding protein gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1603050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28805828 12427821 TPRKB TP53RK binding protein gene DOID:1184 nephrotic syndrome ISO RGD:1603050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:28805828|PMID:29127259 12427821 TPRKB TP53RK binding protein gene DOID:543 dystonia ISO RGD:1603050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12427821 TPRKB TP53RK binding protein gene DOID:630 genetic disease ISO RGD:1603050 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12427821 TPRKB TP53RK binding protein gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1603050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12427834 EPSTI1 epithelial stromal interaction 1 gene DOID:0080600 COVID-19 ISO RGD:1353297 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12427834 EPSTI1 epithelial stromal interaction 1 gene DOID:0080600 COVID-19 ISO RGD:1353297 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12427834 EPSTI1 epithelial stromal interaction 1 gene DOID:10283 prostate cancer ISO RGD:1353297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12427834 EPSTI1 epithelial stromal interaction 1 gene DOID:630 genetic disease ISO RGD:1353297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427851 FAM177B family with sequence similarity 177 member B gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1605784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 12427851 FAM177B family with sequence similarity 177 member B gene DOID:1540 parathyroid carcinoma ISO RGD:1605784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12427851 FAM177B family with sequence similarity 177 member B gene DOID:630 genetic disease ISO RGD:1605784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427851 FAM177B family with sequence similarity 177 member B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12427879 SCAMP1 secretory carrier membrane protein 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:731550 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 12427879 SCAMP1 secretory carrier membrane protein 1 gene DOID:12800 mucopolysaccharidosis VI ISO RGD:731550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 PMID:10036316|PMID:17458871|PMID:18486607|PMID:28492532 12427879 SCAMP1 secretory carrier membrane protein 1 gene DOID:630 genetic disease ISO RGD:731550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427879 SCAMP1 secretory carrier membrane protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12427895 CCDC181 coiled-coil domain containing 181 gene DOID:1540 parathyroid carcinoma ISO RGD:1602471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12427895 CCDC181 coiled-coil domain containing 181 gene DOID:630 genetic disease ISO RGD:1602471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427895 CCDC181 coiled-coil domain containing 181 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1602471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12427895 CCDC181 coiled-coil domain containing 181 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12427911 GNL3L G protein nucleolar 3 like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12427911 GNL3L G protein nucleolar 3 like gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1346519 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 12427911 GNL3L G protein nucleolar 3 like gene DOID:12849 autistic disorder ISO RGD:1346519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12427911 GNL3L G protein nucleolar 3 like gene DOID:630 genetic disease ISO RGD:1346519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427932 SLC37A3 solute carrier family 37 member 3 gene DOID:0080690 RASopathy ISO RGD:1321198 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12427932 SLC37A3 solute carrier family 37 member 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12427932 SLC37A3 solute carrier family 37 member 3 gene DOID:630 genetic disease ISO RGD:1321198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427956 PSD4 pleckstrin and Sec7 domain containing 4 gene DOID:630 genetic disease ISO RGD:1321104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427981 RAP1A RAP1A, member of RAS oncogene family gene DOID:630 genetic disease ISO RGD:1352228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12427981 RAP1A RAP1A, member of RAS oncogene family gene DOID:9004912 Hyperoxaluria ISO RGD:1359694 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:23091645|REF_RGD_ID:10040961 12427981 RAP1A RAP1A, member of RAS oncogene family gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:1359694 D RGD:9068941 20200609 RGD PMID:20501665|REF_RGD_ID:10003160 12427993 TPCN2 two pore segment channel 2 gene DOID:1059 intellectual disability ISO RGD:1323411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12427993 TPCN2 two pore segment channel 2 gene DOID:630 genetic disease ISO RGD:1323411 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12427993 TPCN2 two pore segment channel 2 gene DOID:9000097 Skin/Hair/Eye Pigmentation, Variation In, 10 ISO RGD:1323411 D RGD:7240710 20210818 OMIM 12427993 TPCN2 two pore segment channel 2 gene DOID:9000097 Skin/Hair/Eye Pigmentation, Variation In, 10 ISO RGD:1323411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 10 PMID:18488028|PMID:25741868 12427993 TPCN2 two pore segment channel 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1323411 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12427993 TPCN2 two pore segment channel 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1323411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12427993 TPCN2 two pore segment channel 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1323411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 12428027 YIF1B Yip1 interacting factor homolog B, membrane trafficking protein gene DOID:630 genetic disease ISO RGD:1604767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:32006098|PMID:33103737 12428027 YIF1B Yip1 interacting factor homolog B, membrane trafficking protein gene DOID:9003570 Kaya-Barakat-Masson Syndrome ISO RGD:1604767 D RGD:7240710 20201223 OMIM 12428027 YIF1B Yip1 interacting factor homolog B, membrane trafficking protein gene DOID:9003570 Kaya-Barakat-Masson Syndrome ISO RGD:1604767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kaya-Barakat-Masson syndrome PMID:32006098|PMID:33103737 12428045 WNT5A Wnt family member 5A gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1353257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28726637 12428045 WNT5A Wnt family member 5A gene DOID:0060254 Robinow syndrome ISO RGD:1353257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12428045 WNT5A Wnt family member 5A gene DOID:0060254 Robinow syndrome ISO RGD:734385 D RGD:9068941 20220825 MouseDO 12428045 WNT5A Wnt family member 5A gene DOID:0060766 autosomal dominant Robinow syndrome 1 ISO RGD:1353257 D RGD:7240710 20180131 OMIM 12428045 WNT5A Wnt family member 5A gene DOID:0060766 autosomal dominant Robinow syndrome 1 ISO RGD:1353257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 PMID:16602827|PMID:18414213|PMID:19918918|PMID:24716670|PMID:25326635|PMID:25741868|PMID:28492532|PMID:29276006|PMID:30760477|PMID:5771504 12428045 WNT5A Wnt family member 5A gene DOID:219 colon cancer treatment ISO RGD:69250 D RGD:9068941 20211210 RGD PMID:28032729|REF_RGD_ID:150530464 12428045 WNT5A Wnt family member 5A gene DOID:2871 endometrial carcinoma ISO RGD:1353257 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:vs normal endometrium PMID:9099960|REF_RGD_ID:2291875 12428045 WNT5A Wnt family member 5A gene DOID:630 genetic disease ISO RGD:1353257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12428045 WNT5A Wnt family member 5A gene DOID:9002739 Female Urogenital Diseases ISO RGD:1353257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 12428045 WNT5A Wnt family member 5A gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1353257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 12428045 WNT5A Wnt family member 5A gene DOID:9005172 Lung Neoplasms ISO RGD:1353257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349696 12428045 WNT5A Wnt family member 5A gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1353257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19061910 12428086 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:735610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 12428086 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:735610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 12428086 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:735610 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:10873396|PMID:14555765|PMID:15249368|PMID:15347646|PMID:16123401|PMID:18055820|PMID:20301475|PMID:22412862|PMID:23737531|PMID:25741868|PMID:26626312|PMID:28492532|PMID:29068479 12428086 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:735610 D RGD:7240710 20180130 OMIM 12428086 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:735610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AIPL1-Related Disorders | ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:10873396|PMID:10927016|PMID:11139241|PMID:12573663|PMID:12881340|PMID:14555765|PMID:14611946|PMID:15024725|PMID:15249368|PMID:15347646|PMID:15469903|PMID:16052170|PMID:16123401|PMID:16199547|PMID:16205573|PMID:17576681|PMID:17964524|PMID:18055820|PMID:18408180|PMID:18682808|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20702822|PMID:21474771|PMID:21900377|PMID:22347407|PMID:22412862|PMID:23737531|PMID:24093488|PMID:24426771|PMID:25148430|PMID:25356976|PMID:25596619|PMID:25741868|PMID:25799540|PMID:26047050|PMID:26306921|PMID:26626312|PMID:26650897|PMID:27268253|PMID:28041643|PMID:28492532|PMID:28739921|PMID:28973376|PMID:29068479|PMID:29178642|PMID:29641573|PMID:30029497|PMID:30576320|PMID:30718709|PMID:30910914|PMID:32531858|PMID:33067476|PMID:33623043|PMID:9536098 12428086 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:735610 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 12428086 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:0111005 cone-rod dystrophy 2 ISO RGD:735610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 2 PMID:25741868 12428086 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:0111406 Fraser syndrome 3 ISO RGD:735610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:24426771|PMID:28492532 12428086 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:0112232 lissencephaly 3 ISO RGD:735610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation PMID:10873396|PMID:22412862|PMID:25741868|PMID:28492532 12428086 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:10584 retinitis pigmentosa ISO RGD:735610 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10873396|PMID:11139241|PMID:12881340|PMID:14611946|PMID:15249368|PMID:15469903|PMID:16052170|PMID:18408180|PMID:18682808|PMID:20301475|PMID:20683928|PMID:22412862|PMID:23737531|PMID:25741868|PMID:28492532 12428086 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:10584 retinitis pigmentosa treatment ISO RGD:733112 D RGD:9068941 20200609 RGD PMID:19710705|REF_RGD_ID:8696011 12428086 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:10584 retinitis pigmentosa treatment ISO RGD:735610 D RGD:9068941 20200609 RGD PMID:19710705|REF_RGD_ID:8696011 12428086 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:1432 blindness susceptibility ISO RGD:735610 D RGD:9068941 20200609 RGD PMID:10873396|REF_RGD_ID:1599003 12428086 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:735610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:10615133|PMID:10873396|PMID:15024725|PMID:15249368|PMID:15347646|PMID:18408180|PMID:20079931|PMID:20301475|PMID:20702822|PMID:21474771|PMID:22412862|PMID:25596619|PMID:25741868|PMID:25799540|PMID:26306921|PMID:27268253|PMID:28041643|PMID:28492532|PMID:28739921|PMID:28973376|PMID:29641573|PMID:30718709|PMID:32531858|PMID:33067476 12428086 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:14791 Leber congenital amaurosis treatment ISO RGD:735610 D RGD:9068941 20200609 RGD PMID:19710705|REF_RGD_ID:8696011 12428086 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:630 genetic disease ISO RGD:735610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12428086 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:8501 fundus dystrophy ISO RGD:735610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10615133|PMID:10873396|PMID:15249368|PMID:15347646|PMID:20301475|PMID:21474771|PMID:22412862|PMID:25596619|PMID:25741868|PMID:25799540|PMID:28041643|PMID:28492532|PMID:30718709|PMID:33067476 12428086 AIPL1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:9008296 Eye Abnormalities ISO RGD:735610 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 12428096 VPS37D VPS37D subunit of ESCRT-I gene DOID:0060041 autism spectrum disorder ISO RGD:1349183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12428096 VPS37D VPS37D subunit of ESCRT-I gene DOID:10923 sickle cell anemia ISO RGD:1349183 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12428096 VPS37D VPS37D subunit of ESCRT-I gene DOID:12849 autistic disorder ISO RGD:1349183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12428096 VPS37D VPS37D subunit of ESCRT-I gene DOID:1928 Williams-Beuren syndrome ISO RGD:1349183 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 12428096 VPS37D VPS37D subunit of ESCRT-I gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12428096 VPS37D VPS37D subunit of ESCRT-I gene DOID:5419 schizophrenia ISO RGD:1349183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12428096 VPS37D VPS37D subunit of ESCRT-I gene DOID:630 genetic disease ISO RGD:1349183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428096 VPS37D VPS37D subunit of ESCRT-I gene DOID:8445 intestinal volvulus ISO RGD:1349183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12428096 VPS37D VPS37D subunit of ESCRT-I gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12428096 VPS37D VPS37D subunit of ESCRT-I gene DOID:9008419 Volvulus Of Midgut ISO RGD:1349183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12428104 FKBP6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:0060041 autism spectrum disorder ISO RGD:1318976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12428104 FKBP6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:10923 sickle cell anemia ISO RGD:1318976 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12428104 FKBP6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:12336 male infertility ISO RGD:1318976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Male infertility PMID:25741868|PMID:36150389 12428104 FKBP6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:12849 autistic disorder ISO RGD:1318976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12428104 FKBP6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:1928 Williams-Beuren syndrome ISO RGD:1318976 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 12428104 FKBP6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12428104 FKBP6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:5419 schizophrenia ISO RGD:1318976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12428104 FKBP6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:630 genetic disease ISO RGD:1318976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428104 FKBP6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:8445 intestinal volvulus ISO RGD:1318976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12428104 FKBP6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12428104 FKBP6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:9005311 Spermatogenic Failure 77 ISO RGD:1318976 D RGD:7240710 20221102 OMIM 12428104 FKBP6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:9005311 Spermatogenic Failure 77 ISO RGD:1318976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 77 PMID:25741868|PMID:36150389 12428104 FKBP6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:9008419 Volvulus Of Midgut ISO RGD:1318976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12428120 KCNA10 potassium voltage-gated channel subfamily A member 10 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1312242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 12428120 KCNA10 potassium voltage-gated channel subfamily A member 10 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1312242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 12428120 KCNA10 potassium voltage-gated channel subfamily A member 10 gene DOID:12849 autistic disorder ISO RGD:1312242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12428120 KCNA10 potassium voltage-gated channel subfamily A member 10 gene DOID:3426 vestibular disease ISO RGD:1621289 D RGD:9068941 20220825 MouseDO 12428120 KCNA10 potassium voltage-gated channel subfamily A member 10 gene DOID:630 genetic disease ISO RGD:1312242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428127 GAS1 growth arrest specific 1 gene DOID:0110881 holoprosencephaly 1 ISO RGD:1345993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 1 PMID:20583177|PMID:21842183 12428127 GAS1 growth arrest specific 1 gene DOID:4621 holoprosencephaly ISO RGD:1345993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17525797 12428127 GAS1 growth arrest specific 1 gene DOID:630 genetic disease ISO RGD:1345993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428132 EFNA5 ephrin A5 gene DOID:0060668 anencephaly ISO RGD:732052 D RGD:9068941 20220825 MouseDO OMIM:206500 12428132 EFNA5 ephrin A5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350398 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12428132 EFNA5 ephrin A5 gene DOID:0080600 COVID-19 ISO RGD:1350398 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12428132 EFNA5 ephrin A5 gene DOID:630 genetic disease ISO RGD:1350398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428132 EFNA5 ephrin A5 gene DOID:9004009 Reperfusion Injury ISO RGD:1350398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 12428132 EFNA5 ephrin A5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12428132 EFNA5 ephrin A5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350398 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12428148 CREB3 cAMP responsive element binding protein 3 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1318829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12428148 CREB3 cAMP responsive element binding protein 3 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1318829 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12428148 CREB3 cAMP responsive element binding protein 3 gene DOID:0080942 anauxetic dysplasia ISO RGD:1318829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12428148 CREB3 cAMP responsive element binding protein 3 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1318829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12428148 CREB3 cAMP responsive element binding protein 3 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1318829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12428148 CREB3 cAMP responsive element binding protein 3 gene DOID:3007 breast ductal carcinoma ISO RGD:1318829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12428148 CREB3 cAMP responsive element binding protein 3 gene DOID:630 genetic disease ISO RGD:1318829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428148 CREB3 cAMP responsive element binding protein 3 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1318829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12428148 CREB3 cAMP responsive element binding protein 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12428148 CREB3 cAMP responsive element binding protein 3 gene DOID:9870 galactosemia ISO RGD:1318829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12428161 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:0060599 Nance-Horan syndrome ISO RGD:732890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12428161 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12428161 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:732890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12428161 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:0111042 glycogen storage disease IXa ISO RGD:732890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12428161 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:0111999 immunodeficiency 61 ISO RGD:732890 D RGD:7240710 20190501 OMIM 12428161 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:0111999 immunodeficiency 61 ISO RGD:732890 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency 61 PMID:25741868|PMID:28492532|PMID:29636373 12428161 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:12849 autistic disorder ISO RGD:732890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12428161 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:732890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 12428161 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:630 genetic disease ISO RGD:732890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12428161 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:732890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 12428161 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12428205 SMIM12 small integral membrane protein 12 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12428205 SMIM12 small integral membrane protein 12 gene DOID:630 genetic disease ISO RGD:1606189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428227 OST4 oligosaccharyltransferase complex subunit 4, non-catalytic gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:3418321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12428227 OST4 oligosaccharyltransferase complex subunit 4, non-catalytic gene DOID:630 genetic disease ISO RGD:3418321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428259 SPAG8 sperm associated antigen 8 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1316057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12428259 SPAG8 sperm associated antigen 8 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1316057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:15146390|PMID:15572448|PMID:16199547|PMID:16384845|PMID:18945719|PMID:22691581|PMID:25741868|PMID:26567084|PMID:28492532|PMID:30359775|PMID:30408610|PMID:31960617 12428259 SPAG8 sperm associated antigen 8 gene DOID:0080942 anauxetic dysplasia ISO RGD:1316057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 12428259 SPAG8 sperm associated antigen 8 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1316057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 12428259 SPAG8 sperm associated antigen 8 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1316057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12428259 SPAG8 sperm associated antigen 8 gene DOID:630 genetic disease ISO RGD:1316057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428259 SPAG8 sperm associated antigen 8 gene DOID:9000342 Familial Focal Epilepsy, with Variable Foci 2 ISO RGD:1316057 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 2 PMID:25387261|PMID:25741868|PMID:26633542|PMID:30359775|PMID:30408610|PMID:32720985 12428259 SPAG8 sperm associated antigen 8 gene DOID:9001915 SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES ISO RGD:1316057 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Short stature with nonspecific skeletal abnormalities PMID:16384845|PMID:22691581|PMID:25741868|PMID:28492532 12428259 SPAG8 sperm associated antigen 8 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1316057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 12428259 SPAG8 sperm associated antigen 8 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12428259 SPAG8 sperm associated antigen 8 gene DOID:9870 galactosemia ISO RGD:1316057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12428279 LOC102154834 uncharacterized LOC102154834 gene DOID:12849 autistic disorder ISO RGD:6481333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12428330 EIF5B eukaryotic translation initiation factor 5B gene DOID:630 genetic disease ISO RGD:1353401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428363 CALU calumenin gene DOID:0060224 atrial fibrillation ISO RGD:733017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 12428363 CALU calumenin gene DOID:0080199 colorectal carcinoma ISO RGD:733017 D RGD:9068941 20200609 RGD mRNA:increased expression:colon (human) PMID:18776587|REF_RGD_ID:2316232 12428363 CALU calumenin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12428363 CALU calumenin gene DOID:630 genetic disease ISO RGD:733017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428363 CALU calumenin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:733017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 12428363 CALU calumenin gene DOID:9008582 Developmental Disease ISO RGD:733017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12428381 NT5C2 5'-nucleotidase, cytosolic II gene DOID:0110797 hereditary spastic paraplegia 45 ISO RGD:1322721 D RGD:7240710 20180130 OMIM 12428381 NT5C2 5'-nucleotidase, cytosolic II gene DOID:0110797 hereditary spastic paraplegia 45 ISO RGD:1322721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 PMID:16199547|PMID:17576681|PMID:19415352|PMID:24482476|PMID:25741868|PMID:28492532|PMID:29123918|PMID:32214227|PMID:9536098 12428381 NT5C2 5'-nucleotidase, cytosolic II gene DOID:10907 microcephaly ISO RGD:1322721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 12428381 NT5C2 5'-nucleotidase, cytosolic II gene DOID:2476 hereditary spastic paraplegia ISO RGD:1322721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12428381 NT5C2 5'-nucleotidase, cytosolic II gene DOID:630 genetic disease ISO RGD:1322721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12428381 NT5C2 5'-nucleotidase, cytosolic II gene DOID:9002801 Recurrence ISO RGD:1322721 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23377183 12428381 NT5C2 5'-nucleotidase, cytosolic II gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322721 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12428381 NT5C2 5'-nucleotidase, cytosolic II gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1322721 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 12428381 NT5C2 5'-nucleotidase, cytosolic II gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1322721 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23377183 12428420 VIRMA vir like m6A methyltransferase associated gene DOID:630 genetic disease ISO RGD:1603673 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428446 LAMTOR3 late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 gene DOID:630 genetic disease ISO RGD:1316146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428460 TAGLN3 transgelin 3 gene DOID:630 genetic disease ISO RGD:1348892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428468 UGDH UDP-glucose 6-dehydrogenase gene DOID:0112219 developmental and epileptic encephalopathy 84 ISO RGD:734073 D RGD:7240710 20200318 OMIM 12428468 UGDH UDP-glucose 6-dehydrogenase gene DOID:0112219 developmental and epileptic encephalopathy 84 ISO RGD:734073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 84 PMID:25741868|PMID:32001716|PMID:32860008 12428468 UGDH UDP-glucose 6-dehydrogenase gene DOID:630 genetic disease ISO RGD:734073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428468 UGDH UDP-glucose 6-dehydrogenase gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:734073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency PMID:28492532 12428468 UGDH UDP-glucose 6-dehydrogenase gene DOID:9001793 Generalized Epilepsy ISO RGD:734073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:32001716|PMID:32860008 12428468 UGDH UDP-glucose 6-dehydrogenase gene DOID:9007188 Liver Neoplasms ISO RGD:734073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17114358 12428487 CAPN13 calpain 13 gene DOID:630 genetic disease ISO RGD:1349624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428515 MAP3K11 mitogen-activated protein kinase kinase kinase 11 gene DOID:1059 intellectual disability ISO RGD:1347603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12428515 MAP3K11 mitogen-activated protein kinase kinase kinase 11 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1347603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12428515 MAP3K11 mitogen-activated protein kinase kinase kinase 11 gene DOID:2746 glycogen storage disease V ISO RGD:1347603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12428515 MAP3K11 mitogen-activated protein kinase kinase kinase 11 gene DOID:3070 high grade glioma ISO RGD:1347603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 12428515 MAP3K11 mitogen-activated protein kinase kinase kinase 11 gene DOID:630 genetic disease ISO RGD:1347603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428515 MAP3K11 mitogen-activated protein kinase kinase kinase 11 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1347603 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12428515 MAP3K11 mitogen-activated protein kinase kinase kinase 11 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1347603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 12428538 NUCB1 nucleobindin 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:734023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 12428538 NUCB1 nucleobindin 1 gene DOID:630 genetic disease ISO RGD:734023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428555 ZNF45 zinc finger protein 45 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1354120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12428555 ZNF45 zinc finger protein 45 gene DOID:5419 schizophrenia ISO RGD:1354120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12428555 ZNF45 zinc finger protein 45 gene DOID:630 genetic disease ISO RGD:1354120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428568 TIMM44 translocase of inner mitochondrial membrane 44 gene DOID:0080490 mucolipidosis type IV ISO RGD:734087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12428568 TIMM44 translocase of inner mitochondrial membrane 44 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:734087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 12428568 TIMM44 translocase of inner mitochondrial membrane 44 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:734087 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:22003103|REF_RGD_ID:13463597 12428568 TIMM44 translocase of inner mitochondrial membrane 44 gene DOID:630 genetic disease ISO RGD:734087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428568 TIMM44 translocase of inner mitochondrial membrane 44 gene DOID:8947 diabetic retinopathy ISO RGD:3864 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:retina PMID:22003103|REF_RGD_ID:13463597 12428568 TIMM44 translocase of inner mitochondrial membrane 44 gene DOID:9002514 Neointima treatment ISO RGD:737090 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16186389|REF_RGD_ID:13463598 12428568 TIMM44 translocase of inner mitochondrial membrane 44 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3864 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:23255365|REF_RGD_ID:13463486 12428584 SH2D3A SH2 domain containing 3A gene DOID:0080490 mucolipidosis type IV ISO RGD:1348075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12428584 SH2D3A SH2 domain containing 3A gene DOID:630 genetic disease ISO RGD:1348075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428607 NEFM neurofilament medium chain gene DOID:0050328 congenital hypothyroidism ISO RGD:3160 D RGD:9068941 20200609 RGD protein:decreased expression, increased phosphorylation PMID:18845185|REF_RGD_ID:9693732 12428607 NEFM neurofilament medium chain gene DOID:10652 Alzheimer's disease ISO RGD:735476 D RGD:9068941 20200609 RGD protein:decreased glycosylation:cerebral cortex PMID:17687114|REF_RGD_ID:9743945 12428607 NEFM neurofilament medium chain gene DOID:11446 sciatic neuropathy ISO RGD:3160 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:12638730|REF_RGD_ID:9743948 12428607 NEFM neurofilament medium chain gene DOID:11446 sciatic neuropathy ISO RGD:3160 D RGD:9068941 20201211 RGD PMID:3135913|REF_RGD_ID:9693730 12428607 NEFM neurofilament medium chain gene DOID:11446 sciatic neuropathy treatment ISO RGD:3160 D RGD:9068941 20200609 RGD PMID:12445968|REF_RGD_ID:9743941 12428607 NEFM neurofilament medium chain gene DOID:1459 hypothyroidism treatment ISO RGD:3160 D RGD:9068941 20200609 RGD PMID:10439464|REF_RGD_ID:9743942 12428607 NEFM neurofilament medium chain gene DOID:224 transient cerebral ischemia ISO RGD:3160 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:8726968|REF_RGD_ID:9743938 12428607 NEFM neurofilament medium chain gene DOID:289 endometriosis ISO RGD:735476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 12428607 NEFM neurofilament medium chain gene DOID:332 amyotrophic lateral sclerosis ISO RGD:730855 D RGD:9068941 20200609 RGD PMID:16006557|REF_RGD_ID:9698444 12428607 NEFM neurofilament medium chain gene DOID:3525 middle cerebral artery infarction ISO RGD:10970 D RGD:9068941 20201211 RGD protein:altered expression:brain PMID:29967576|REF_RGD_ID:27226878 12428607 NEFM neurofilament medium chain gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735476 D RGD:9068941 20201211 RGD protein:increased serine/threonine phosphorylation:brain PMID:26033855|REF_RGD_ID:40886309 12428607 NEFM neurofilament medium chain gene DOID:630 genetic disease ISO RGD:735476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428607 NEFM neurofilament medium chain gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:3160 D RGD:9068941 20200609 RGD PMID:18772508|REF_RGD_ID:9698443 12428607 NEFM neurofilament medium chain gene DOID:9002498 Wallerian Degeneration ISO RGD:3160 D RGD:9068941 20200609 RGD protein:decreased expression:neuron PMID:10646539|REF_RGD_ID:9698439 12428607 NEFM neurofilament medium chain gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3160 D RGD:9068941 20200609 RGD PMID:12941778|REF_RGD_ID:9698428 12428607 NEFM neurofilament medium chain gene DOID:9005695 Malnutrition ISO RGD:3160 D RGD:9068941 20201211 RGD protein:increased expression:cerebral cortex PMID:1908892|REF_RGD_ID:40902817 12428607 NEFM neurofilament medium chain gene DOID:9008091 Optic Nerve Injuries ISO RGD:3160 D RGD:9068941 20200609 RGD PMID:8501527|REF_RGD_ID:9743936 12428614 AMIGO2 adhesion molecule with Ig like domain 2 gene DOID:1909 melanoma treatment ISO RGD:1553273 D RGD:9068941 20200609 RGD PMID:26553931|REF_RGD_ID:14392781 12428614 AMIGO2 adhesion molecule with Ig like domain 2 gene DOID:3717 gastric adenocarcinoma ISO RGD:736884 D RGD:9068941 20200609 RGD mRNA:increased expression:serosa of stomach (human) PMID:15107827|REF_RGD_ID:13838842 12428614 AMIGO2 adhesion molecule with Ig like domain 2 gene DOID:630 genetic disease ISO RGD:736884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428614 AMIGO2 adhesion molecule with Ig like domain 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1553273 D RGD:9068941 20200609 RGD Liver Metastasis PMID:28272394|REF_RGD_ID:14394499 12428614 AMIGO2 adhesion molecule with Ig like domain 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis severity ISO RGD:1553273 D RGD:9068941 20200609 RGD PMID:28119027|REF_RGD_ID:14392778 12428614 AMIGO2 adhesion molecule with Ig like domain 2 gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:1553273 D RGD:9068941 20200609 RGD PMID:26553931|REF_RGD_ID:14392781 12428622 S100A16 S100 calcium binding protein A16 gene DOID:0111940 immunodeficiency 42 ISO RGD:1315577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12428622 S100A16 S100 calcium binding protein A16 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1315577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12428622 S100A16 S100 calcium binding protein A16 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1315577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12428622 S100A16 S100 calcium binding protein A16 gene DOID:1540 parathyroid carcinoma ISO RGD:1315577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12428622 S100A16 S100 calcium binding protein A16 gene DOID:5812 MHC class II deficiency ISO RGD:1315577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12428622 S100A16 S100 calcium binding protein A16 gene DOID:630 genetic disease ISO RGD:1315577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428622 S100A16 S100 calcium binding protein A16 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12428636 ZSCAN30 zinc finger and SCAN domain containing 30 gene DOID:1059 intellectual disability ISO RGD:2290512 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12428636 ZSCAN30 zinc finger and SCAN domain containing 30 gene DOID:630 genetic disease ISO RGD:2290512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428650 ABCA8 ATP binding cassette subfamily A member 8 gene DOID:0060041 autism spectrum disorder ISO RGD:1316041 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12428650 ABCA8 ATP binding cassette subfamily A member 8 gene DOID:630 genetic disease ISO RGD:1316041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428650 ABCA8 ATP binding cassette subfamily A member 8 gene DOID:9002801 Recurrence ISO RGD:1316041 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 12428650 ABCA8 ATP binding cassette subfamily A member 8 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1316041 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 12428650 ABCA8 ATP binding cassette subfamily A member 8 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316041 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12428650 ABCA8 ATP binding cassette subfamily A member 8 gene DOID:9008939 Breast Neoplasms ISO RGD:1316041 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35191604 12428713 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1351228 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P312L (human) PMID:11940089|REF_RGD_ID:11554032 12428713 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12428713 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome ISO RGD:1351228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic 16 PMID:25741868|PMID:28492532 12428713 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1351228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 12428713 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:0111824 Aarskog syndrome ISO RGD:1351228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aarskog syndrome PMID:10930571|PMID:11093277|PMID:11940089|PMID:14560308|PMID:15809997|PMID:16353258|PMID:16688726|PMID:17152066|PMID:17847065|PMID:20082460|PMID:21739585|PMID:23211637|PMID:25046119|PMID:25741868|PMID:26029706|PMID:27959697|PMID:28492532|PMID:29276006|PMID:4146757|PMID:7954831 12428713 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:10283 prostate cancer ISO RGD:1351228 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland (human) PMID:19141649|REF_RGD_ID:11554027 12428713 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1351228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:11940089|PMID:25741868|PMID:28492532 12428713 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1351228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15809997 12428713 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1351228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12428713 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:1351228 D RGD:9068941 20200609 RGD protein:increased expression:breast (human) PMID:19141649|REF_RGD_ID:11554027 12428713 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:630 genetic disease ISO RGD:1351228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11093277|PMID:11940089|PMID:17847065|PMID:19261807|PMID:20082460|PMID:21739585|PMID:23211637|PMID:23375260|PMID:24033266|PMID:25046119|PMID:25741868|PMID:26029706|PMID:26467025|PMID:27959697|PMID:28492532|PMID:8969170 12428713 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:6683 X-linked Aarskog syndrome ISO RGD:1351228 D RGD:7240710 20180130 OMIM 12428713 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:9000067 Congenital Foot Deformities ISO RGD:1351228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11940089 12428713 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:9001611 Urogenital Abnormalities ISO RGD:1351228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10930571|PMID:11093277|PMID:7954831 12428713 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1351228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11940089 12428713 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:9006257 Growth Disorders ISO RGD:1351228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10930571|PMID:11093277|PMID:11940089|PMID:7954831 12428713 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1351228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11093277 12428713 FGD1 FYVE, RhoGEF and PH domain containing 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7954831 12428735 C6H16orf82 chromosome 6 C16orf82 homolog gene DOID:630 genetic disease ISO RGD:1602175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428740 DCDC2C doublecortin domain containing 2C gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:4144303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:25741868 12428757 NATD1 N-acetyltransferase domain containing 1 gene DOID:630 genetic disease ISO RGD:1606417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428771 SMAD3 SMAD family member 3 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:17576681|PMID:21217753|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29392890|PMID:30661052|PMID:31085000|PMID:9536098 12428771 SMAD3 SMAD family member 3 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:1343311 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:21217753|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29392890|PMID:30661052|PMID:30787465|PMID:31085000 12428771 SMAD3 SMAD family member 3 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:1343311 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:21217753|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29392890|PMID:30661052|PMID:30787465|PMID:31085000|PMID:31915033 12428771 SMAD3 SMAD family member 3 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:1343311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:16199547|PMID:17576681|PMID:21217753|PMID:21778426|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29392890|PMID:30661052|PMID:30787465|PMID:31085000|PMID:31915033|PMID:9536098 12428771 SMAD3 SMAD family member 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:3032 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver PMID:24680176|REF_RGD_ID:12903951 12428771 SMAD3 SMAD family member 3 gene DOID:0070237 Loeys-Dietz syndrome 3 ISO RGD:1343311 D RGD:7240710 20180130 OMIM 12428771 SMAD3 SMAD family member 3 gene DOID:0070237 Loeys-Dietz syndrome 3 ISO RGD:1343311 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C PMID:15350224|PMID:16828225|PMID:17725494|PMID:21217753|PMID:21778426|PMID:21815248|PMID:21835029|PMID:22167769|PMID:23554019|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:25877775|PMID:25944730|PMID:27724990|PMID:28185953|PMID:28492532|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29717556|PMID:29907982|PMID:30661052|PMID:30739908|PMID:30787465|PMID:31085000|PMID:31915033|PMID:32154675|PMID:33125268 12428771 SMAD3 SMAD family member 3 gene DOID:0080334 aortic valve disease 2 ISO RGD:1343311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic valve disease 2 PMID:28492532 12428771 SMAD3 SMAD family member 3 gene DOID:0080685 aortic dissection ISO RGD:1343311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:16199547|PMID:21778426|PMID:24804794|PMID:25741868|PMID:28492532 12428771 SMAD3 SMAD family member 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:1343311 D RGD:9068941 20200609 RGD protein:increased expression:tumor:significantly elevated in 53/67 (79%, p=0.0002) overall, in 23/35 with Gleason score 6-7(66%) and 30/32 with Gleason score 8-10 (94%, p=0.0062); by immunohistochemistry PMID:17908958|REF_RGD_ID:2300396 12428771 SMAD3 SMAD family member 3 gene DOID:127 leiomyoma ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228119 12428771 SMAD3 SMAD family member 3 gene DOID:1324 lung cancer ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:21515830|PMID:24465804|PMID:26253951 12428771 SMAD3 SMAD family member 3 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1343311 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:15350224|PMID:21217753|PMID:22167769|PMID:23554019|PMID:24033266|PMID:25644172|PMID:25741868|PMID:25944730|PMID:28185953|PMID:28492532|PMID:29392890|PMID:29510914|PMID:29717556|PMID:30661052|PMID:30787465|PMID:32154675 12428771 SMAD3 SMAD family member 3 gene DOID:1380 endometrial cancer ISO RGD:1343311 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:12883738|REF_RGD_ID:2299970 12428771 SMAD3 SMAD family member 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1343311 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10092624|PMID:11224571|PMID:15350224|PMID:16199547|PMID:16828225|PMID:17576681|PMID:17725494|PMID:21217753|PMID:21778426|PMID:21815248|PMID:21835029|PMID:21949838|PMID:22167769|PMID:23139211|PMID:23554019|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:25877775|PMID:25944730|PMID:26133393|PMID:26854089|PMID:27724990|PMID:28185953|PMID:28391405|PMID:28492532|PMID:29392890|PMID:29444731|PMID:29510914|PMID:29543232|PMID:29717556|PMID:29907982|PMID:30661052|PMID:30675029|PMID:30739908|PMID:30787465|PMID:31085000|PMID:31096651|PMID:31098894|PMID:31915033|PMID:32154675|PMID:33125268|PMID:9536098 12428771 SMAD3 SMAD family member 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1343311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10092624|PMID:11224571|PMID:15350224|PMID:16199547|PMID:16828225|PMID:17576681|PMID:17725494|PMID:21217753|PMID:21778426|PMID:21815248|PMID:21835029|PMID:21949838|PMID:22167769|PMID:23139211|PMID:23554019|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:25877775|PMID:25944730|PMID:26133393|PMID:26333736|PMID:26854089|PMID:27724990|PMID:27986426|PMID:28185953|PMID:28391405|PMID:28492532|PMID:29392890|PMID:29444731|PMID:29510914|PMID:29543232|PMID:29717556|PMID:29907982|PMID:30661052|PMID:30675029|PMID:30739908|PMID:30787465|PMID:31085000|PMID:31096651|PMID:31098894|PMID:31915033|PMID:32154675|PMID:32597575|PMID:33125268|PMID:9536098 12428771 SMAD3 SMAD family member 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1343311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10092624|PMID:11224571|PMID:15350224|PMID:16199547|PMID:16828225|PMID:17576681|PMID:17725494|PMID:21217753|PMID:21778426|PMID:21815248|PMID:21835029|PMID:21949838|PMID:22167769|PMID:23139211|PMID:23554019|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25640679|PMID:25644172|PMID:25741868|PMID:25877775|PMID:25944730|PMID:26133393|PMID:26333736|PMID:26854089|PMID:27724990|PMID:27986426|PMID:28185953|PMID:28391405|PMID:28492532|PMID:29392890|PMID:29444731|PMID:29510914|PMID:29543232|PMID:29717556|PMID:29907982|PMID:30661052|PMID:30675029|PMID:30739908|PMID:30787465|PMID:31085000|PMID:31096651|PMID:31098894|PMID:31915033|PMID:32154675|PMID:32597575|PMID:33125268|PMID:9536098 12428771 SMAD3 SMAD family member 3 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 12428771 SMAD3 SMAD family member 3 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1343311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12428771 SMAD3 SMAD family member 3 gene DOID:1793 pancreatic cancer ISO RGD:1343311 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 12428771 SMAD3 SMAD family member 3 gene DOID:2717 Bloom syndrome ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12428771 SMAD3 SMAD family member 3 gene DOID:3393 coronary artery disease ISO RGD:1343311 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Coronary artery disease PMID:25741868 12428771 SMAD3 SMAD family member 3 gene DOID:3627 aortic aneurysm ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm PMID:25741868 12428771 SMAD3 SMAD family member 3 gene DOID:3744 cervical squamous cell carcinoma severity ISO RGD:1343311 D RGD:9068941 20200807 RGD PMID:28086903|REF_RGD_ID:38455996 12428771 SMAD3 SMAD family member 3 gene DOID:3883 Lynch syndrome ISO RGD:1343311 D RGD:9068941 20200609 RGD PMID:10819637|REF_RGD_ID:1599900 12428771 SMAD3 SMAD family member 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1343311 D RGD:9068941 20220818 RGD protein:increased expression:lung (human) PMID:25375657|REF_RGD_ID:11074609 12428771 SMAD3 SMAD family member 3 gene DOID:5082 liver cirrhosis ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21605584 12428771 SMAD3 SMAD family member 3 gene DOID:5199 ureteral obstruction ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 12428771 SMAD3 SMAD family member 3 gene DOID:520 aortic disease ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:21778426|PMID:24804794|PMID:25741868|PMID:28492532|PMID:31098894 12428771 SMAD3 SMAD family member 3 gene DOID:630 genetic disease ISO RGD:1343311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12428771 SMAD3 SMAD family member 3 gene DOID:65 connective tissue disease ISO RGD:1343311 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:21217753|PMID:24804794|PMID:25644172|PMID:25741868|PMID:25877775|PMID:28492532|PMID:30661052|PMID:30739908|PMID:31085000 12428771 SMAD3 SMAD family member 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12428771 SMAD3 SMAD family member 3 gene DOID:8398 osteoarthritis ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21217753|PMID:22772368 12428771 SMAD3 SMAD family member 3 gene DOID:8398 osteoarthritis ISO RGD:735647 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 12428771 SMAD3 SMAD family member 3 gene DOID:8778 Crohn's disease ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 12428771 SMAD3 SMAD family member 3 gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:25741868 12428771 SMAD3 SMAD family member 3 gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arterial dissection PMID:25741868|PMID:28492532 12428771 SMAD3 SMAD family member 3 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3032 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 12428771 SMAD3 SMAD family member 3 gene DOID:9001665 Aneurysm ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aneurysm PMID:25741868 12428771 SMAD3 SMAD family member 3 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:3032 D RGD:9068941 20200609 RGD mRNA:increased expression:hypoglossal nucleus PMID:17166487|REF_RGD_ID:1643227 12428771 SMAD3 SMAD family member 3 gene DOID:9004268 Uterine Neoplasms ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228119 12428771 SMAD3 SMAD family member 3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27422367 12428771 SMAD3 SMAD family member 3 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 12428771 SMAD3 SMAD family member 3 gene DOID:9006045 Dissecting Aneurysm ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21217753 12428771 SMAD3 SMAD family member 3 gene DOID:9007174 Ventricular Remodeling ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16635409 12428771 SMAD3 SMAD family member 3 gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:735647 D RGD:9068941 20230406 RGD associated with myocardial infarction PMID:25726944|REF_RGD_ID:11252030 12428771 SMAD3 SMAD family member 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3032 D RGD:9068941 20200609 RGD PMID:22913380|REF_RGD_ID:12903950 12428771 SMAD3 SMAD family member 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 12428771 SMAD3 SMAD family member 3 gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AAT1 12428771 SMAD3 SMAD family member 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15183723|PMID:21217753 12428771 SMAD3 SMAD family member 3 gene DOID:9256 colorectal cancer ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:0050469 Costello syndrome ISO RGD:1343460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17703371 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:1343460 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome PMID:16439621|PMID:17981815|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:19376813|PMID:20358587|PMID:23885229|PMID:24033266|PMID:24265153|PMID:25487361|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29493581|PMID:33452774 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:27799067 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1343460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:0080690 RASopathy ISO RGD:1343460 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: RASopathy PMID:15175348|PMID:16199547|PMID:16439621|PMID:17366577|PMID:17576681|PMID:17981815|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18470943|PMID:19156172|PMID:19376813|PMID:21178588|PMID:22558107|PMID:22753777|PMID:23379592|PMID:23885229|PMID:24033266|PMID:24265153|PMID:24719372|PMID:24803665|PMID:24896146|PMID:25326637|PMID:25487361|PMID:25741868|PMID:25802880|PMID:25974318|PMID:26580448|PMID:27257017|PMID:27751966|PMID:27763634|PMID:28492532|PMID:29493581|PMID:29625052|PMID:29654263|PMID:29696744|PMID:29907801|PMID:30095857|PMID:30762279|PMID:30773290|PMID:33452774|PMID:9536098 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:0080690 RASopathy ISO RGD:1343460 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: RASopathy PMID:15175348|PMID:16199547|PMID:17366577|PMID:17576681|PMID:17981815|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18470943|PMID:19156172|PMID:19376813|PMID:21178588|PMID:22558107|PMID:22753777|PMID:23379592|PMID:23885229|PMID:24033266|PMID:24265153|PMID:24803665|PMID:24896146|PMID:25326637|PMID:25487361|PMID:25741868|PMID:25802880|PMID:25974318|PMID:26580448|PMID:27257017|PMID:27751966|PMID:27763634|PMID:28492532|PMID:29493581|PMID:29625052|PMID:29654263|PMID:29696744|PMID:29907801|PMID:30050098|PMID:30095857|PMID:30762279|PMID:30773290|PMID:33452774|PMID:9536098 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:0080690 RASopathy ISO RGD:1343460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy PMID:15175348|PMID:16199547|PMID:16439621|PMID:17366577|PMID:17576681|PMID:17981815|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18470943|PMID:19156172|PMID:19376813|PMID:21178588|PMID:22558107|PMID:22589294|PMID:22753777|PMID:23379592|PMID:23885229|PMID:24033266|PMID:24265153|PMID:24719372|PMID:24803665|PMID:24896146|PMID:25326637|PMID:25487361|PMID:25621899|PMID:25741868|PMID:25802880|PMID:25974318|PMID:26580448|PMID:27257017|PMID:27751966|PMID:27763634|PMID:28492532|PMID:28798025|PMID:29493581|PMID:29625052|PMID:29654263|PMID:29696744|PMID:29907801|PMID:30050098|PMID:30095857|PMID:30762279|PMID:30773290|PMID:32901917|PMID:33452774|PMID:9536098 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:0080690 RASopathy ISO RGD:1343460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:15175348|PMID:16199547|PMID:16439621|PMID:17366577|PMID:17576681|PMID:17981815|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18470943|PMID:19156172|PMID:19376813|PMID:21178588|PMID:22558107|PMID:22589294|PMID:22753777|PMID:23379592|PMID:23885229|PMID:24033266|PMID:24265153|PMID:24719372|PMID:24803665|PMID:24896146|PMID:25326637|PMID:25487361|PMID:25621899|PMID:25640679|PMID:25741868|PMID:25802880|PMID:25974318|PMID:26580448|PMID:27257017|PMID:27751966|PMID:27763634|PMID:28492532|PMID:28798025|PMID:29493581|PMID:29625052|PMID:29654263|PMID:29696744|PMID:29907801|PMID:30050098|PMID:30095857|PMID:30762279|PMID:30773290|PMID:32901917|PMID:33452774|PMID:9536098 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:0080690 RASopathy ISO RGD:1343460 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: RASopathy PMID:15175348|PMID:16199547|PMID:16439621|PMID:17366577|PMID:17576681|PMID:17981815|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18470943|PMID:19156172|PMID:19376813|PMID:21178588|PMID:22558107|PMID:22589294|PMID:22753777|PMID:23885229|PMID:24033266|PMID:24265153|PMID:24719372|PMID:24803665|PMID:24896146|PMID:25326637|PMID:25487361|PMID:25621899|PMID:25640679|PMID:25741868|PMID:25802880|PMID:25974318|PMID:26580448|PMID:27763634|PMID:28492532|PMID:28798025|PMID:29493581|PMID:29625052|PMID:29654263|PMID:29696744|PMID:29907801|PMID:30050098|PMID:30095857|PMID:30762279|PMID:30773290|PMID:32901917|PMID:33452774|PMID:9536098 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:0111152 multicentric Castleman disease ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TAFRO syndrome 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:0111460 cardiofaciocutaneous syndrome 1 ISO RGD:1343460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 PMID:17366577|PMID:24719372|PMID:25326637|PMID:25741868|PMID:28492532 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:0111463 cardiofaciocutaneous syndrome 4 ISO RGD:1343460 D RGD:7240710 20180130 OMIM 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:0111463 cardiofaciocutaneous syndrome 4 ISO RGD:1343460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 4 PMID:15175348|PMID:16439621|PMID:17366577|PMID:17576681|PMID:17981815|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:19156172|PMID:19376813|PMID:20358587|PMID:21178588|PMID:22753777|PMID:23885229|PMID:24033266|PMID:24265153|PMID:24719372|PMID:24803665|PMID:25326637|PMID:25487361|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29493581|PMID:29625052|PMID:29696744|PMID:29907801|PMID:30050098|PMID:30773290|PMID:32901917|PMID:9536098 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:0111683 neurofibromatosis-Noonan syndrome ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome PMID:28492532 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:13938 amenorrhea ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines PMID:17366577|PMID:24033266|PMID:24719372|PMID:28492532|PMID:30773290 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:1612 breast cancer ISO RGD:1343460 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:tumor PMID:10216485|REF_RGD_ID:2292627 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:1909 melanoma ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma PMID:24265153|PMID:24265154|PMID:25487361|PMID:28492532 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:3068 glioblastoma treatment ISO RGD:1343460 D RGD:9068941 20200609 RGD PMID:26189368|REF_RGD_ID:13702862 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:3490 Noonan syndrome ISO RGD:1343460 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:17981815|PMID:18039235|PMID:18413255|PMID:19376813|PMID:22753777|PMID:23885229|PMID:24033266|PMID:25741868|PMID:25802880|PMID:28492532|PMID:29493581|PMID:29696744|PMID:30050098|PMID:30762279|PMID:33452774 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:3717 gastric adenocarcinoma ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:18042262|PMID:26619011 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1550208 D RGD:9068941 20211210 RGD PMID:21514245|REF_RGD_ID:150530476 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:18042262|PMID:26619011 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:4906 small intestine adenocarcinoma ISO RGD:1343460 D RGD:9068941 20200609 RGD PMID:19014680|REF_RGD_ID:13464351 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:18042262|PMID:26619011 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:630 genetic disease ISO RGD:1343460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:6364 migraine ISO RGD:1343460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Migraine PMID:25741868|PMID:28492532 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:61888 D RGD:9068941 20211210 RGD protein:increased expression:liver, cytosol (rat) PMID:9397988|REF_RGD_ID:150530477 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1343460 D RGD:9068941 20211210 RGD mRNA:increased expression:liver (human) PMID:33553243|REF_RGD_ID:150530475 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:8923 skin melanoma ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:18042262|PMID:26619011 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343460 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32512071 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1343460 D RGD:9068941 20200609 RGD PMID:18060073|REF_RGD_ID:2298686 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:1343460 D RGD:9068941 20221222 RGD mRNA:decreased expression:blood, leukocyte (human) PMID:26956845|REF_RGD_ID:155791561 12428789 MAP2K2 mitogen-activated protein kinase kinase 2 gene DOID:9256 colorectal cancer ISO RGD:1343460 D RGD:9068941 20211210 RGD mRNA:decreased expression:colorectum (human) PMID:28000901|REF_RGD_ID:150530480 12428804 CNGA2 cyclic nucleotide gated channel subunit alpha 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12428804 CNGA2 cyclic nucleotide gated channel subunit alpha 2 gene DOID:12849 autistic disorder ISO RGD:736824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12428804 CNGA2 cyclic nucleotide gated channel subunit alpha 2 gene DOID:630 genetic disease ISO RGD:736824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428813 AFF1 ALF transcription elongation factor 1 gene DOID:3307 teratoma ISO RGD:1317426 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 12428813 AFF1 ALF transcription elongation factor 1 gene DOID:630 genetic disease ISO RGD:1317426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428907 TFF3 trefoil factor 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:3847 D RGD:9068941 20200609 RGD protein:decreased expression:colon PMID:17847023|REF_RGD_ID:7349371 12428907 TFF3 trefoil factor 3 gene DOID:0080178 mucositis ISO RGD:736458 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19636011 12428907 TFF3 trefoil factor 3 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:11407 D RGD:9068941 20200609 RGD PMID:31211621|REF_RGD_ID:14747028 12428907 TFF3 trefoil factor 3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:736458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12428907 TFF3 trefoil factor 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:736458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12428907 TFF3 trefoil factor 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:736458 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16467092|REF_RGD_ID:2291999 12428907 TFF3 trefoil factor 3 gene DOID:219 colon cancer ISO RGD:3847 D RGD:9068941 20200609 RGD protein:decreased expression:colon PMID:17847023|REF_RGD_ID:7349371 12428907 TFF3 trefoil factor 3 gene DOID:3021 acute kidney failure ISO RGD:736458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23052191 12428907 TFF3 trefoil factor 3 gene DOID:557 kidney disease ISO RGD:736458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24863737 12428907 TFF3 trefoil factor 3 gene DOID:630 genetic disease ISO RGD:736458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428907 TFF3 trefoil factor 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:736458 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12428907 TFF3 trefoil factor 3 gene DOID:9000156 Metaplasia ISO RGD:736458 D RGD:9068941 20200609 RGD associated with Duodenal Diseases PMID:12612884|REF_RGD_ID:7364761 12428907 TFF3 trefoil factor 3 gene DOID:9000722 Animal Hepatitis ISO RGD:736458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18559427 12428907 TFF3 trefoil factor 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3847 D RGD:9068941 20200609 RGD PMID:19287349|REF_RGD_ID:7349369 12428907 TFF3 trefoil factor 3 gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:11407 D RGD:9068941 20200828 RGD mRNA:altered expression:gastric antrum (mouse) PMID:29085807|REF_RGD_ID:38549349 12428907 TFF3 trefoil factor 3 gene DOID:9263 homocystinuria ISO RGD:736458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12428907 TFF3 trefoil factor 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:736458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12428907 Tff3 trefoil factor 3, intestinal gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:11407 D RGD:9068941 20200609 RGD PMID:31211621|REF_RGD_ID:14747028 12428914 HERPUD2 HERPUD family member 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12428914 HERPUD2 HERPUD family member 2 gene DOID:630 genetic disease ISO RGD:1605640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428914 HERPUD2 HERPUD family member 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1605640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:0050902 medulloblastoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:26619011 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:0060040 pervasive developmental disorder ISO RGD:1347453 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pervasive developmental disorder PMID:25741868|PMID:28135719|PMID:35395208 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:26619011 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:25741868|PMID:26619011 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:1107 esophageal carcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:25741868|PMID:26619011 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:1324 lung cancer ISO RGD:1347453 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:1909 melanoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:25741868|PMID:26619011 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:2513 basal cell carcinoma ISO RGD:1347453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:2671 transitional cell carcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:25741868|PMID:26619011 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:3068 glioblastoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:26619011 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:3070 high grade glioma ISO RGD:1347453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18931460 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:363 uterine cancer ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:25741868|PMID:26619011 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:3717 gastric adenocarcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:25741868|PMID:26619011 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:25741868|PMID:26619011 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:3910 lung adenocarcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:26619011 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:4465 papillary renal cell carcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:26619011 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:25741868|PMID:26619011 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1347453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19246562|PMID:24394663 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:25741868|PMID:26619011 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:6171 uterine carcinosarcoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:25741868|PMID:26619011 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:630 genetic disease ISO RGD:1347453 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:8923 skin melanoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:25741868|PMID:26619011 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:9000135 Developmental Delay, Hypotonia, and Impaired Language ISO RGD:1347453 D RGD:7240710 20221109 OMIM 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:9000135 Developmental Delay, Hypotonia, and Impaired Language ISO RGD:1347453 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Developmental delay, hypotonia, and impaired language PMID:25741868|PMID:28135719|PMID:35395208 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:25741868|PMID:26619011 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:9002981 Genomic Instability ISO RGD:1347453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17588203 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:25741868|PMID:26619011 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347453 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33057194 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:9006618 Liver Metastasis disease_progression ISO RGD:1347453 D RGD:9068941 20200609 RGD associated with colorectal cancer; PMID:28846828|REF_RGD_ID:21408566 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1347453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:26619011 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:25741868|PMID:26619011 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:9008939 Breast Neoplasms ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast tumor PMID:26619011 12428926 FBXW7 F-box and WD repeat domain containing 7 gene DOID:9256 colorectal cancer ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 12428948 E2F8 E2F transcription factor 8 gene DOID:1059 intellectual disability ISO RGD:1605946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12428948 E2F8 E2F transcription factor 8 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 12428948 E2F8 E2F transcription factor 8 gene DOID:630 genetic disease ISO RGD:1605946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428948 E2F8 E2F transcription factor 8 gene DOID:684 hepatocellular carcinoma ISO RGD:1605946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12428948 E2F8 E2F transcription factor 8 gene DOID:9000918 Disease Progression ISO RGD:1605946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 12428948 E2F8 E2F transcription factor 8 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1605946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27683099 12428970 PUS7L pseudouridine synthase 7 like gene DOID:630 genetic disease ISO RGD:1606495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12428989 SLC17A3 solute carrier family 17 member 3 gene DOID:13189 gout ISO RGD:1344101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uric acid concentration, serum, quantitative trait locus 4 PMID:20810651 12428989 SLC17A3 solute carrier family 17 member 3 gene DOID:13189 gout susceptibility ISO RGD:1344101 D RGD:7240710 20230505 OMIM 12428989 SLC17A3 solute carrier family 17 member 3 gene DOID:630 genetic disease ISO RGD:1344101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429012 TNP2 transition protein 2 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:736031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 12429012 TNP2 transition protein 2 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:736031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 12429012 TNP2 transition protein 2 gene DOID:5812 MHC class II deficiency ISO RGD:736031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12429012 TNP2 transition protein 2 gene DOID:630 genetic disease ISO RGD:736031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429016 ZNF575 zinc finger protein 575 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1312810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 12429016 ZNF575 zinc finger protein 575 gene DOID:5419 schizophrenia ISO RGD:1312810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12429016 ZNF575 zinc finger protein 575 gene DOID:630 genetic disease ISO RGD:1312810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429040 NEURL1 neuralized E3 ubiquitin protein ligase 1 gene DOID:0060224 atrial fibrillation ISO RGD:1315966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 12429040 NEURL1 neuralized E3 ubiquitin protein ligase 1 gene DOID:11832 visual epilepsy ISO RGD:1307021 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:12213446|REF_RGD_ID:2302390 12429040 NEURL1 neuralized E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1315966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429040 NEURL1 neuralized E3 ubiquitin protein ligase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 12429060 NMT2 N-myristoyltransferase 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1349505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12429060 NMT2 N-myristoyltransferase 2 gene DOID:5119 ovarian cyst ISO RGD:1349505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 12429060 NMT2 N-myristoyltransferase 2 gene DOID:630 genetic disease ISO RGD:1349505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429077 LOC487375 elongation factor 1-alpha 1-like gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25052858|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27441201|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 12429077 LOC487375 elongation factor 1-alpha 1-like gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 12429077 LOC487375 elongation factor 1-alpha 1-like gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1344342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532 12429077 LOC487375 elongation factor 1-alpha 1-like gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1344342 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 12429077 LOC487375 elongation factor 1-alpha 1-like gene DOID:0070068 autosomal dominant intellectual developmental disorder 38 ISO RGD:1344342 D RGD:7240710 20180130 OMIM 12429077 LOC487375 elongation factor 1-alpha 1-like gene DOID:0070068 autosomal dominant intellectual developmental disorder 38 ISO RGD:1344342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38 PMID:18414213|PMID:23033978|PMID:23647072|PMID:24697219|PMID:25326326|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26682508|PMID:26795593|PMID:27441201|PMID:27652284|PMID:28135719|PMID:28378778|PMID:28492532|PMID:28628100|PMID:28911200|PMID:3066688|PMID:32160274|PMID:32196822|PMID:32429945|PMID:33004838 12429077 LOC487375 elongation factor 1-alpha 1-like gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1344342 D RGD:7240710 20180130 OMIM 12429077 LOC487375 elongation factor 1-alpha 1-like gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1344342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:14534157|PMID:17290276|PMID:17576681|PMID:18414213|PMID:19822871|PMID:20805988|PMID:23033978|PMID:23166088|PMID:23360469|PMID:23647072|PMID:23692823|PMID:24697219|PMID:24811917|PMID:25326326|PMID:25326635|PMID:25741868|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26467025|PMID:26633542|PMID:26682508|PMID:26740508|PMID:26758118|PMID:26795593|PMID:27441201|PMID:27652284|PMID:27779742|PMID:28135719|PMID:28378778|PMID:28492532|PMID:28628100|PMID:28911200|PMID:30109124|PMID:3066688|PMID:30866059|PMID:32160274|PMID:32196822|PMID:32429945|PMID:33004838|PMID:9536098 12429077 LOC487375 elongation factor 1-alpha 1-like gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1344342 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532 12429077 LOC487375 elongation factor 1-alpha 1-like gene DOID:0110798 hereditary spastic paraplegia 46 ISO RGD:1344342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 46 PMID:25741868|PMID:28492532 12429077 LOC487375 elongation factor 1-alpha 1-like gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 12429077 LOC487375 elongation factor 1-alpha 1-like gene DOID:1059 intellectual disability ISO RGD:1344342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18414213|PMID:23033978|PMID:23647072|PMID:25326326|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26795593|PMID:27441201|PMID:27652284|PMID:28378778|PMID:28492532|PMID:28628100|PMID:28911200|PMID:33004838 12429077 LOC487375 elongation factor 1-alpha 1-like gene DOID:10652 Alzheimer's disease ISO RGD:1344342 D RGD:9068941 20200609 RGD protein:increased expression:CA1field of hippocampus: PMID:8750861|REF_RGD_ID:10401216 12429077 LOC487375 elongation factor 1-alpha 1-like gene DOID:12849 autistic disorder ISO RGD:1344342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12429077 LOC487375 elongation factor 1-alpha 1-like gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 12429077 LOC487375 elongation factor 1-alpha 1-like gene DOID:1826 epilepsy ISO RGD:1344342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:26467025|PMID:28492532 12429077 LOC487375 elongation factor 1-alpha 1-like gene DOID:1826 epilepsy ISO RGD:1344342 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure 12429077 LOC487375 elongation factor 1-alpha 1-like gene DOID:2394 ovarian cancer ISO RGD:1344342 D RGD:9068941 20200609 RGD DNA, mRNA:amplification, increased expression:ovary PMID:12053177|REF_RGD_ID:2303420 12429077 LOC487375 elongation factor 1-alpha 1-like gene DOID:630 genetic disease ISO RGD:1344342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23033978|PMID:23647072|PMID:24697219|PMID:25326326|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633542|PMID:26682508|PMID:26795593|PMID:27441201|PMID:27652284|PMID:28378778|PMID:28492532|PMID:28628100|PMID:28911200|PMID:30109124|PMID:3066688|PMID:32196822|PMID:32429945|PMID:7491491|PMID:9253415 12429077 LOC487375 elongation factor 1-alpha 1-like gene DOID:9000217 Stomach Neoplasms ISO RGD:1344342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12429077 LOC487375 elongation factor 1-alpha 1-like gene DOID:9002955 Nerve Degeneration ISO RGD:3781 D RGD:9068941 20200609 RGD protein:increased expression:CA1&CA3 fields of hippocampus: PMID:8750861|REF_RGD_ID:10401216 12429077 LOC487375 elongation factor 1-alpha 1-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344342 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12429077 LOC487375 elongation factor 1-alpha 1-like gene DOID:9008582 Developmental Disease ISO RGD:1344342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12429077 LOC487375 elongation factor 1-alpha 1-like gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1344342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 12429089 KRTAP27-1 keratin associated protein 27-1 gene DOID:630 genetic disease ISO RGD:2292072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429094 NKX3-2 NK3 homeobox 2 gene DOID:630 genetic disease ISO RGD:1353604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12429094 NKX3-2 NK3 homeobox 2 gene DOID:65 connective tissue disease ISO RGD:1353604 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 12429094 NKX3-2 NK3 homeobox 2 gene DOID:9008170 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia ISO RGD:1353604 D RGD:7240710 20180130 OMIM 12429094 NKX3-2 NK3 homeobox 2 gene DOID:9008170 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia ISO RGD:1353604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylo-megaepiphyseal-metaphyseal dysplasia PMID:20004766|PMID:25741868|PMID:28492532|PMID:29704686 12429099 CNPY4 canopy FGF signaling regulator 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12429099 CNPY4 canopy FGF signaling regulator 4 gene DOID:630 genetic disease ISO RGD:1606674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429099 CNPY4 canopy FGF signaling regulator 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12429109 ZNF689 zinc finger protein 689 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1603925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 12429109 ZNF689 zinc finger protein 689 gene DOID:630 genetic disease ISO RGD:1603925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429116 RHBDL3 rhomboid like 3 gene DOID:630 genetic disease ISO RGD:1352464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429137 CFP complement factor properdin gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1351689 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 12429137 CFP complement factor properdin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12429137 CFP complement factor properdin gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1351689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 12429137 CFP complement factor properdin gene DOID:0080176 meningococcal meningitis ISO RGD:1351689 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10909851|PMID:8530058 12429137 CFP complement factor properdin gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1351689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12429137 CFP complement factor properdin gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1351689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12429137 CFP complement factor properdin gene DOID:0111768 X-linked properdin deficiency ISO RGD:1351689 D RGD:7240710 20190315 OMIM 12429137 CFP complement factor properdin gene DOID:0111768 X-linked properdin deficiency ISO RGD:1351689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Properdin deficiency, X-linked | ClinVar Annotator: match by term: Properdin deficiency, type II | ClinVar Annotator: match by term: Properdin deficiency, type III PMID:10909851|PMID:25741868|PMID:28492532|PMID:3380115|PMID:7151327|PMID:8530058|PMID:8871668 12429137 CFP complement factor properdin gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1351689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 12429137 CFP complement factor properdin gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1351689 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 12429137 CFP complement factor properdin gene DOID:12134 factor VIII deficiency ISO RGD:1351689 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:6912882|REF_RGD_ID:11041156 12429137 CFP complement factor properdin gene DOID:12849 autistic disorder ISO RGD:1351689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12429137 CFP complement factor properdin gene DOID:630 genetic disease ISO RGD:1351689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12429137 CFP complement factor properdin gene DOID:684 hepatocellular carcinoma ISO RGD:1351689 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12429137 CFP complement factor properdin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351689 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12429151 LEMD3 LEM domain containing 3 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1343559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 12429151 LEMD3 LEM domain containing 3 gene DOID:0111536 Buschke-Ollendorff syndrome ISO RGD:1343559 D RGD:7240710 20180130 OMIM 12429151 LEMD3 LEM domain containing 3 gene DOID:0111536 Buschke-Ollendorff syndrome ISO RGD:1343559 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata | ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata, isolated | ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis | ClinVar Annotator: match by term: OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS PMID:12749062|PMID:15489854|PMID:16470551|PMID:17087626|PMID:17223882|PMID:19438932|PMID:25741868|PMID:27382493|PMID:28434888|PMID:28492532|PMID:9295073 12429151 LEMD3 LEM domain containing 3 gene DOID:0111536 Buschke-Ollendorff syndrome no_association ISO RGD:1343559 D RGD:9068941 20200609 RGD PMID:20083694|REF_RGD_ID:11553842 12429151 LEMD3 LEM domain containing 3 gene DOID:11991 Osteopoikilosis ISO RGD:1343559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteopoikilosis PMID:15489854 12429151 LEMD3 LEM domain containing 3 gene DOID:630 genetic disease ISO RGD:1343559 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12429151 LEMD3 LEM domain containing 3 gene DOID:9005750 Melorheostosis with Osteopoikilosis ISO RGD:1343559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis PMID:12749062|PMID:15489854|PMID:16470551|PMID:17087626|PMID:19438932|PMID:28492532|PMID:9295073 12429151 LEMD3 LEM domain containing 3 gene DOID:9006066 Familial Cutaneous Collagenoma ISO RGD:1343559 D RGD:9068941 20200609 RGD DNA:transition mutation:intron: 1522+1G>A(human) PMID:17223882|REF_RGD_ID:11553841 12429170 CHEK1 checkpoint kinase 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:732292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12429170 CHEK1 checkpoint kinase 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:732292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12429170 CHEK1 checkpoint kinase 1 gene DOID:10283 prostate cancer ISO RGD:732292 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12429170 CHEK1 checkpoint kinase 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:732292 D RGD:9068941 20200609 RGD DNA:SNP: :35G>A (human) PMID:18381943|REF_RGD_ID:2317234 12429170 CHEK1 checkpoint kinase 1 gene DOID:5419 schizophrenia ISO RGD:732292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12429170 CHEK1 checkpoint kinase 1 gene DOID:630 genetic disease ISO RGD:732292 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429170 CHEK1 checkpoint kinase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732292 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:15448002|REF_RGD_ID:2317235 12429170 CHEK1 checkpoint kinase 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:732292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12429170 CHEK1 checkpoint kinase 1 gene DOID:9005779 Polyploidy ISO RGD:732292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25123929 12429170 CHEK1 checkpoint kinase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26845104 12429170 CHEK1 checkpoint kinase 1 gene DOID:9007661 Dwarfism ISO RGD:732292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12429170 CHEK1 checkpoint kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25688741 12429185 FA2H fatty acid 2-hydroxylase gene DOID:0050952 spastic ataxia ISO RGD:1318772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532|PMID:34445196 12429185 FA2H fatty acid 2-hydroxylase gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1318772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:25741868|PMID:27316240|PMID:28492532|PMID:29423566|PMID:30713878|PMID:31130284|PMID:31135052|PMID:33059505|PMID:33083013|PMID:34852264 12429185 FA2H fatty acid 2-hydroxylase gene DOID:0110786 hereditary spastic paraplegia 35 ISO RGD:1318772 D RGD:7240710 20180130 OMIM 12429185 FA2H fatty acid 2-hydroxylase gene DOID:0110786 hereditary spastic paraplegia 35 ISO RGD:1318772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 35 PMID:16199547|PMID:17576681|PMID:18414213|PMID:19068277|PMID:20104589|PMID:20853438|PMID:22146942|PMID:23745665|PMID:24033266|PMID:24299421|PMID:24833714|PMID:25326637|PMID:25496456|PMID:25732363|PMID:25741868|PMID:26344562|PMID:26467025|PMID:27217339|PMID:27957547|PMID:28017243|PMID:28492532|PMID:29423566|PMID:30446360|PMID:30532373|PMID:30713878|PMID:31130284|PMID:31135052|PMID:31407473|PMID:31429931|PMID:32624042|PMID:32907636|PMID:33083013|PMID:33144682|PMID:33246395|PMID:34445196|PMID:34852264|PMID:9536098 12429185 FA2H fatty acid 2-hydroxylase gene DOID:2476 hereditary spastic paraplegia ISO RGD:1318772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:24033266|PMID:24299421|PMID:24833714|PMID:25741868|PMID:26467025|PMID:27217339|PMID:27957547|PMID:28017243|PMID:28492532|PMID:31135052|PMID:31429931|PMID:32624042|PMID:33144682 12429185 FA2H fatty acid 2-hydroxylase gene DOID:2565 macular corneal dystrophy ISO RGD:1318772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 12429185 FA2H fatty acid 2-hydroxylase gene DOID:607 paraplegia ISO RGD:1318772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:18414213|PMID:20104589|PMID:20853438|PMID:23745665|PMID:24033266|PMID:24299421|PMID:24833714|PMID:25496456|PMID:25732363|PMID:25741868|PMID:26344562|PMID:26467025|PMID:27165006|PMID:27217339|PMID:27316240|PMID:27957547|PMID:28017243|PMID:28492532|PMID:29423566|PMID:29980238|PMID:30713878|PMID:31130284|PMID:31135052|PMID:31227335|PMID:31407473|PMID:31429931|PMID:31628766|PMID:32624042|PMID:32907636|PMID:33059505|PMID:33083013|PMID:33144682|PMID:33246395|PMID:34445196|PMID:34852264|PMID:9536098 12429185 FA2H fatty acid 2-hydroxylase gene DOID:630 genetic disease ISO RGD:1318772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24299421|PMID:25741868|PMID:28492532|PMID:29980238|PMID:31135052|PMID:31227335|PMID:31429931|PMID:31628766|PMID:33144682 12429185 FA2H fatty acid 2-hydroxylase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12429196 LURAP1L leucine rich adaptor protein 1 like gene DOID:630 genetic disease ISO RGD:1317610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429196 LURAP1L leucine rich adaptor protein 1 like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12429196 LURAP1L leucine rich adaptor protein 1 like gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1317610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 12429206 UBE2R2 ubiquitin conjugating enzyme E2 R2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1321905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12429206 UBE2R2 ubiquitin conjugating enzyme E2 R2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1321905 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12429206 UBE2R2 ubiquitin conjugating enzyme E2 R2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1321905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12429206 UBE2R2 ubiquitin conjugating enzyme E2 R2 gene DOID:630 genetic disease ISO RGD:1321905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429206 UBE2R2 ubiquitin conjugating enzyme E2 R2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12429206 UBE2R2 ubiquitin conjugating enzyme E2 R2 gene DOID:9870 galactosemia ISO RGD:1321905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12429215 S1PR4 sphingosine-1-phosphate receptor 4 gene DOID:630 genetic disease ISO RGD:1312457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429215 S1PR4 sphingosine-1-phosphate receptor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12429215 S1PR4 sphingosine-1-phosphate receptor 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1312457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22406263 12429221 METTL24 methyltransferase like 24 gene DOID:630 genetic disease ISO RGD:1343913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429229 SIVA1 SIVA1 apoptosis inducing factor gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1603317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12429229 SIVA1 SIVA1 apoptosis inducing factor gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1603317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 12429229 SIVA1 SIVA1 apoptosis inducing factor gene DOID:630 genetic disease ISO RGD:1603317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429229 SIVA1 SIVA1 apoptosis inducing factor gene DOID:9000220 Coxsackievirus Infections ISO RGD:1603317 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16683188 12429237 ITPRIPL2 ITPRIP like 2 gene DOID:630 genetic disease ISO RGD:1604732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:0050083 Keshan disease ISO RGD:730870 D RGD:9068941 20210326 RGD mRNA,protein:increased expression:blood cells, serum: PMID:26893848|REF_RGD_ID:124713562 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:22660220|REF_RGD_ID:14700952 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:730870 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:0060180 colitis ISO RGD:10436 D RGD:9068941 20200609 RGD mRNA:increased expression:large intestine epithelium PMID:21374063|REF_RGD_ID:5147670 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:0080855 Parkinsonism ISO RGD:10436 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum PMID:18374908|REF_RGD_ID:5147675 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:10283 prostate cancer ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:12949934|REF_RGD_ID:14700953 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:10534 stomach cancer ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:16270381|REF_RGD_ID:14700945 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:10763 hypertension ISO RGD:10436 D RGD:9068941 20200609 RGD PMID:20634294|REF_RGD_ID:7257731 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:10763 hypertension ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20634294|PMID:22995157 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:10892 hypospadias ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:15579657|REF_RGD_ID:11576312 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:10892 hypospadias no_association ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:21300689|REF_RGD_ID:11576313 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:10952 nephritis ISO RGD:10436 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:21907489|REF_RGD_ID:7175305 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:11054 urinary bladder cancer ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:21990318|REF_RGD_ID:7257730 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:11054 urinary bladder cancer ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism: :2455A>G (human) PMID:18979064|REF_RGD_ID:7257733 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:11054 urinary bladder cancer no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphisms: :3801T>C (human) PMID:18200441|REF_RGD_ID:7257736 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:114 heart disease ISO RGD:2458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart PMID:23391631|REF_RGD_ID:7296941 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:18339256|REF_RGD_ID:11576309 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:11836 clubfoot ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:rs1048943 (1384A>G) (p.I462V) (human) PMID:21254355|REF_RGD_ID:11576307 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:11934 head and neck cancer ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:16721740|REF_RGD_ID:14700978 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:11934 head and neck cancer ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:20846153|REF_RGD_ID:14700957 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:1205 allergic disease ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19022366 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:12336 male infertility ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19303595 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:12361 Graves' disease ISO RGD:730870 D RGD:9068941 20200609 RGD associated with Herpesviridae Infections PMID:19903800|REF_RGD_ID:5147671 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:12894 Sjogren's syndrome ISO RGD:730870 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid;DNA:polymorphism: :4889A>G (human) PMID:12590982|REF_RGD_ID:5147747 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:730870 D RGD:9068941 20210326 RGD mRNA,protein:increased expression:blood cells, serum: PMID:26893848|REF_RGD_ID:124713562 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:1324 lung cancer ISO RGD:730870 D RGD:9068941 20200609 RGD associated with Pulmonary Emphysema;DNA:polymorphism: :p.I462V (human) PMID:16696009|REF_RGD_ID:4892075 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:13241 Behcet's disease ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNPs: :4889A>G, 4887C>A (human) PMID:15088300|REF_RGD_ID:8552789 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:1380 endometrial cancer ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNP:CDS:rs4646903 T/T genotype, rs4646903-rs1048943 T-A haplotype, rs4646903 (TT) combined with SULT1A1 SNP rs9282861 (GA + AA) or rs4646903 (TT) combined with SULT1E1 SNP rs3736599 (GA+AA) PMID:18318428|REF_RGD_ID:2301040 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:14330 Parkinson's disease no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.I462V (human) PMID:11793160|REF_RGD_ID:5147678 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:14330 Parkinson's disease no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:11484167|REF_RGD_ID:5147679 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.I462V (human) PMID:8872868|REF_RGD_ID:5147681 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:1485 cystic fibrosis severity ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:14593914|REF_RGD_ID:4889126 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:1612 breast cancer ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:6235T>C (human) PMID:21418988|REF_RGD_ID:8552792 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:1612 breast cancer ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNP::rs4646903 (human) PMID:18497059|REF_RGD_ID:2301045 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:1612 breast cancer no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNP: :p.I462V (rs1048943) (human) PMID:17603290|REF_RGD_ID:8552794 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:1612 breast cancer no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple PMID:9426059|REF_RGD_ID:8552810 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:1612 breast cancer no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:transitions:exon, 3' utr:4889A>G, 6235T>C (human) PMID:12496044|REF_RGD_ID:8552799 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:730870 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:2717 Bloom syndrome ISO RGD:730870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:2773 contact dermatitis ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:2841 asthma ISO RGD:10436 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, decreased activity:lung PMID:12415424|REF_RGD_ID:4892074 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:2843 long QT syndrome ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26988683 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:289 endometriosis ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:18849443|REF_RGD_ID:5147674 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:3021 acute kidney failure treatment ISO RGD:10436 D RGD:9068941 20200609 RGD PMID:18495746|PMID:19890363|REF_RGD_ID:7257732|REF_RGD_ID:7257735 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:3042 allergic contact dermatitis ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11312644|PMID:19022366 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19022366 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphisms: :2455A>G, 3801T>C (human) PMID:18389617|REF_RGD_ID:4892071 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:19507017|REF_RGD_ID:4892045 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.I462V, 3801T>C (human) PMID:20080081|REF_RGD_ID:4293707 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:3121 gallbladder cancer ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.I462V (human) PMID:18990008|REF_RGD_ID:2317211 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:3121 gallbladder cancer ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:transition: :6235T>C (human) PMID:18287863|REF_RGD_ID:2317212 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:3132 porphyria cutanea tarda ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:14714565|REF_RGD_ID:11576310 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:3310 atopic dermatitis ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:341 peripheral vascular disease ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19022366 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:11860825|REF_RGD_ID:14700943 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:4450 renal cell carcinoma ISO RGD:2458 D RGD:9068941 20200609 RGD PMID:11115552|REF_RGD_ID:7296938 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:4450 renal cell carcinoma ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:9631944|REF_RGD_ID:7296939 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:4450 renal cell carcinoma ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.I462V (human) PMID:22296350|REF_RGD_ID:7257729 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:4450 renal cell carcinoma no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNPs: :6235T>C, 4889A>G, 4887C>A (human) PMID:22000673|REF_RGD_ID:7296937 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:4607 biliary tract cancer ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:rs2606345 (human) PMID:19168589|REF_RGD_ID:2317210 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:5041 esophageal cancer ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:11833070|PMID:26782562|REF_RGD_ID:11554919|REF_RGD_ID:14700950 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:5419 schizophrenia ISO RGD:730870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:552 pneumonia susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:15928955|REF_RGD_ID:4142512 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:6132 bronchitis ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:14593914|REF_RGD_ID:4889126 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:6196 reactive arthritis ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism: :4887C>A (human) PMID:14687717|REF_RGD_ID:1581251 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:730870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:6432 pulmonary hypertension ISO RGD:2458 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung PMID:28956952|REF_RGD_ID:13702097 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341023 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:7147 ankylosing spondylitis ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism: :4887C>A (human) PMID:12880680|REF_RGD_ID:1581252 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:783 end stage renal disease ISO RGD:2458 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:intestine PMID:12039987|REF_RGD_ID:7296923 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:783 end stage renal disease ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphisms:exon, 3' utr:3801T>C (rs4646903), p.I462V (rs1048943) (human) PMID:23619522|REF_RGD_ID:7257728 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:824 periodontitis ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:15491310|REF_RGD_ID:14700983 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:4889A>G(p.I462V)(human) PMID:26464823|REF_RGD_ID:11352729 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:8618 oral cavity cancer ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:17461521|REF_RGD_ID:14700965 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:8893 psoriasis susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:missense mutation, SNP:exon, 3' utr:2455A>G, 3801T>C (human) PMID:12713578|REF_RGD_ID:5147677 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9000310 Lung Injury ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24893714|PMID:25703676 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9000363 Hematuria ISO RGD:730870 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:29027484 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2458 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:22687991|REF_RGD_ID:7296954 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2458 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:19595018|REF_RGD_ID:2314952 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2458 D RGD:9068941 20200609 RGD PMID:18442069|REF_RGD_ID:11576311 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2458 D RGD:9068941 20200609 RGD mRNA:increased expression:placenta PMID:16225763|REF_RGD_ID:2306659 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:17706398|REF_RGD_ID:11576317 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15003126 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11275366|PMID:17919073 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9002564 Arteritis ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19022366 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9002992 Nematode Infections ISO RGD:2458 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:12621079|REF_RGD_ID:2306675 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19022366|PMID:26593447 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9003936 Cardiomegaly ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18725507 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9003996 Birth Weight ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27592400 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9004237 Hyperoxic Lung Injury ISO RGD:10436 D RGD:9068941 20200609 RGD PMID:24893714|REF_RGD_ID:11576306 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9004237 Hyperoxic Lung Injury treatment ISO RGD:10436 D RGD:9068941 20200609 RGD PMID:21745492|REF_RGD_ID:11576318 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9004237 Hyperoxic Lung Injury treatment ISO RGD:2458 D RGD:9068941 20200609 RGD PMID:15958656|REF_RGD_ID:4892072 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9004351 Digestive System Neoplasms ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:rs1048943 (human) PMID:19168589|REF_RGD_ID:2317210 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9004484 Sepsis ISO RGD:2458 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:15665729|REF_RGD_ID:5147745 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9004610 Acute Lung Injury ISO RGD:10436 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:18367723|REF_RGD_ID:5135235 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9004610 Acute Lung Injury ISO RGD:2458 D RGD:9068941 20200609 RGD PMID:16882535|REF_RGD_ID:5147744 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9004898 Jaundice ISO RGD:2458 D RGD:9068941 20200609 RGD PMID:8502229|REF_RGD_ID:11576308 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9005236 Drug Eruptions ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19351467 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9005369 Hepatomegaly ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9005372 Inflammation ISO RGD:2458 D RGD:9068941 20200609 RGD PMID:16006567|REF_RGD_ID:5147676 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9005463 Occupational Diseases ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16737584 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2458 D RGD:9068941 20200609 RGD protein:increased expression:liver, microsome (rat) PMID:10711628|REF_RGD_ID:2307074 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22342832 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9006638 Sinus Tachycardia ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26988683 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23138419 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9007001 Bradycardia ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26988683 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9007253 Hamartoma ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21998131 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730870 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:33814510 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9007480 Hyperoxia ISO RGD:10436 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, lung PMID:15123765|REF_RGD_ID:4892073 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9007480 Hyperoxia ISO RGD:2458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, lung (rat) PMID:8267628|REF_RGD_ID:2307076 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9007480 Hyperoxia ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24893714 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9007651 Chronic Bronchitis susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:15928955|REF_RGD_ID:4142512 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9008 psoriatic arthritis susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphisms: :4887C>A, 4889A>G (human) PMID:15124938|REF_RGD_ID:5147746 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16792888 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNP: :4887C>A (human) PMID:14611903|REF_RGD_ID:1581249 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNP: :p.I462V (human) PMID:10599336|REF_RGD_ID:5147680 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:3801T>C (rs4646903) PMID:19561157|REF_RGD_ID:5147672 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9119 acute myeloid leukemia ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNP: :6235T>C (human) PMID:19456854|REF_RGD_ID:10769358 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism: :6235T>C (human) PMID:15996939|REF_RGD_ID:11352736 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9119 acute myeloid leukemia no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNP: :4889A>G (human) PMID:19456854|REF_RGD_ID:10769358 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9256 colorectal cancer ISO RGD:730870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9351 diabetes mellitus ISO RGD:730870 D RGD:9068941 20200609 RGD associated with Smoking Inhalation Injury; DNA:polymorphism:3' UTR:5639T>C (human) PMID:11996959|REF_RGD_ID:2307073 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism:3' UTR:5639T>C (human) PMID:11996959|REF_RGD_ID:2307073 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9538 multiple myeloma susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphisms:3'UTR,cds:3801T>C,12455A>G(human) PMID:18285692|REF_RGD_ID:11352726 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism:3'UTR:3801T>C(human) PMID:16676594|REF_RGD_ID:11352728 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism:3"UTR:rs4646903(human) PMID:22964275|REF_RGD_ID:11352714 12429250 CYP1A1 cytochrome P450 family 1 subfamily A member 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:2452C>A(p.T461N)(human) PMID:23725389|REF_RGD_ID:11352725 12429262 VGF VGF nerve growth factor inducible gene DOID:10808 gastric ulcer ISO RGD:69439 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20805684 12429262 VGF VGF nerve growth factor inducible gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12429262 VGF VGF nerve growth factor inducible gene DOID:630 genetic disease ISO RGD:69439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429262 VGF VGF nerve growth factor inducible gene DOID:9002916 Hyperphagia ISO RGD:69439 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12177191 12429262 VGF VGF nerve growth factor inducible gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:69439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY PMID:21681106 12429262 VGF VGF nerve growth factor inducible gene DOID:9970 obesity ISO RGD:69439 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12177191 12429351 PRPH2 peripherin 2 gene DOID:0050444 infantile Refsum disease ISO RGD:735709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12429351 PRPH2 peripherin 2 gene DOID:0050572 cone-rod dystrophy ISO RGD:735709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:10193525|PMID:10532447|PMID:11139241|PMID:11704030|PMID:14510799|PMID:14557183|PMID:15370544|PMID:15779916|PMID:16019073|PMID:16113362|PMID:16799052|PMID:16885924|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18310263|PMID:19038374|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:22183351|PMID:22466463|PMID:22863181|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25474345|PMID:25675413|PMID:25741868|PMID:25803555|PMID:26103963|PMID:26155838|PMID:26161267|PMID:26667666|PMID:26842753|PMID:27884173|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29343940|PMID:29555955|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32717343|PMID:33546218|PMID:7493155|PMID:8015786|PMID:8302543|PMID:8485576|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 12429351 PRPH2 peripherin 2 gene DOID:0050572 cone-rod dystrophy ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:10193525|PMID:10532447|PMID:11139241|PMID:11704030|PMID:14510799|PMID:14557183|PMID:15370544|PMID:15779916|PMID:16019073|PMID:16113362|PMID:16767206|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18310263|PMID:19038374|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:22183351|PMID:22466463|PMID:22863181|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25474345|PMID:25675413|PMID:25741868|PMID:25803555|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26161267|PMID:26667666|PMID:26796962|PMID:26842753|PMID:27365499|PMID:27884173|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29343940|PMID:29555955|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32717343|PMID:33546218|PMID:7493155|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 12429351 PRPH2 peripherin 2 gene DOID:0050661 vitelliform macular dystrophy ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Vitelliform dystrophy | ClinVar Annotator: match by term: Vitelliform macular dystrophy PMID:25741868|PMID:28492532|PMID:32531846 12429351 PRPH2 peripherin 2 gene DOID:0050662 bestrophinopathy ISO RGD:735709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy PMID:11139241|PMID:15370544|PMID:16113362|PMID:16799052|PMID:22466463|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25741868|PMID:28492532|PMID:28559085|PMID:32531846|PMID:33546218 12429351 PRPH2 peripherin 2 gene DOID:0050795 cone dystrophy ISO RGD:735709 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:11139263|PMID:11801511|PMID:17653047|PMID:19038374|PMID:19243827|PMID:22003107|PMID:22334370|PMID:23950152|PMID:25741868|PMID:25999674|PMID:27813578|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29155698|PMID:29555955|PMID:30215852|PMID:30718709|PMID:31456290|PMID:32531846|PMID:33546218|PMID:34906036|PMID:8644804 12429351 PRPH2 peripherin 2 gene DOID:0050817 Stargardt disease ISO RGD:735709 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 12429351 PRPH2 peripherin 2 gene DOID:0050817 Stargardt disease ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:27813578|PMID:279751|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32531846|PMID:32581362|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 12429351 PRPH2 peripherin 2 gene DOID:0050817 Stargardt disease ISO RGD:735709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:27813578|PMID:279751|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32037395|PMID:32531846|PMID:32581362|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 12429351 PRPH2 peripherin 2 gene DOID:0060745 Doyne honeycomb retinal dystrophy ISO RGD:735709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Doyne honeycomb degeneration of retina PMID:11139241|PMID:11704030|PMID:16113362|PMID:16799052|PMID:17576681|PMID:23950152|PMID:25082885|PMID:25675413|PMID:25741868|PMID:26842753|PMID:28492532|PMID:28559085|PMID:32531846|PMID:9536098 12429351 PRPH2 peripherin 2 gene DOID:0060863 patterned macular dystrophy ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Butterfly-shaped pigment dystrophy of the fovea PMID:10193525|PMID:10532447|PMID:10627133|PMID:10800708|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11427722|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12925772|PMID:1427912|PMID:14510799|PMID:14557183|PMID:15370544|PMID:15779916|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16767206|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:22003107|PMID:22183351|PMID:22334370|PMID:22466463|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26061163|PMID:26103963|PMID:26161267|PMID:26355662|PMID:26667666|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27365499|PMID:27813578|PMID:27884173|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31063015|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:7493155|PMID:7825692|PMID:7880786|PMID:8015786|PMID:8045710|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8485574|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8943002|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9443872|PMID:9536098 12429351 PRPH2 peripherin 2 gene DOID:0060866 patterned macular dystrophy 1 ISO RGD:735709 D RGD:7240710 20181219 OMIM 12429351 PRPH2 peripherin 2 gene DOID:0060866 patterned macular dystrophy 1 ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Patterned macular dystrophy 1 PMID:10193525|PMID:10532447|PMID:10627133|PMID:10800708|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11427722|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12925772|PMID:1427912|PMID:14510799|PMID:14557183|PMID:15370544|PMID:15779916|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16767206|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:22003107|PMID:22183351|PMID:22334370|PMID:22466463|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26061163|PMID:26103963|PMID:26161267|PMID:26355662|PMID:26667666|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27365499|PMID:27813578|PMID:27884173|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31063015|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:34906502|PMID:7493155|PMID:7710395|PMID:7825692|PMID:7880786|PMID:8004111|PMID:8015786|PMID:8045710|PMID:8111389|PMID:8202715|PMID:8251014|PMID:8302543|PMID:8485574|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8943002|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9443872|PMID:9536098 12429351 PRPH2 peripherin 2 gene DOID:0090059 enhanced S-cone syndrome ISO RGD:735710 D RGD:9068941 20200609 RGD PMID:23650562|REF_RGD_ID:8554862 12429351 PRPH2 peripherin 2 gene DOID:0110383 retinitis pigmentosa 7 ISO RGD:735709 D RGD:7240710 20180130 OMIM 12429351 PRPH2 peripherin 2 gene DOID:0110383 retinitis pigmentosa 7 ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 18 | ClinVar Annotator: match by term: Retinitis pigmentosa 7 | ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic PMID:10193525|PMID:10532447|PMID:10800708|PMID:11139241|PMID:11297544|PMID:11427722|PMID:11853584|PMID:11934323|PMID:12925772|PMID:14510799|PMID:16019073|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17148040|PMID:17504850|PMID:17653047|PMID:19038374|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:22863181|PMID:23105016|PMID:23847139|PMID:23950152|PMID:24265693|PMID:24416769|PMID:24463884|PMID:24608669|PMID:24963162|PMID:25082885|PMID:25412400|PMID:25447119|PMID:25675413|PMID:25741868|PMID:25803555|PMID:26061163|PMID:26103963|PMID:26321861|PMID:26355662|PMID:26667666|PMID:26720483|PMID:27365499|PMID:27813578|PMID:28041643|PMID:28045043|PMID:28076437|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28838317|PMID:29186038|PMID:29276052|PMID:29343940|PMID:29453956|PMID:29555955|PMID:31054281|PMID:31213501|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:33546218|PMID:7493155|PMID:7825692|PMID:7880786|PMID:7904791|PMID:8015786|PMID:8019570|PMID:8020945|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8675410|PMID:8740695|PMID:8747448|PMID:8943002|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9443872 12429351 PRPH2 peripherin 2 gene DOID:10283 prostate cancer ISO RGD:735709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12429351 PRPH2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10193525|PMID:10532447|PMID:10747861|PMID:10800708|PMID:10862101|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11427722|PMID:11704030|PMID:11801511|PMID:11853584|PMID:12045052|PMID:12925772|PMID:1427912|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22842402|PMID:22863181|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:24938718|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25494902|PMID:25675413|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26061163|PMID:26103963|PMID:26161267|PMID:26667666|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27208204|PMID:27365499|PMID:27884173|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28838317|PMID:29155698|PMID:29276052|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30217183|PMID:30718709|PMID:30822235|PMID:30924848|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:7493155|PMID:7754251|PMID:8015786|PMID:8019570|PMID:8058286|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8449524|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8943002|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9361310|PMID:9443872|PMID:9536098|PMID:9673478 12429351 PRPH2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735709 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10193525|PMID:10532447|PMID:10747861|PMID:10800708|PMID:10862101|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11427722|PMID:11704030|PMID:11801511|PMID:11853584|PMID:12045052|PMID:12925772|PMID:1427912|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22842402|PMID:22863181|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:24938718|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25494902|PMID:25675413|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26061163|PMID:26103963|PMID:26161267|PMID:26667666|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27208204|PMID:27365499|PMID:27884173|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28838317|PMID:29155698|PMID:29276052|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30217183|PMID:30718709|PMID:30822235|PMID:30924848|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:7493155|PMID:7754251|PMID:8015786|PMID:8019570|PMID:8058286|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8449524|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8943002|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9361310|PMID:9443872|PMID:9536098|PMID:9673478 12429351 PRPH2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735709 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10193525|PMID:10532447|PMID:10800708|PMID:10862101|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11704030|PMID:11801511|PMID:11853584|PMID:12925772|PMID:1427912|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22842402|PMID:22863181|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:24938718|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25494902|PMID:25675413|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26061163|PMID:26103963|PMID:26161267|PMID:26667666|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27208204|PMID:27365499|PMID:27884173|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28838317|PMID:29155698|PMID:29276052|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30217183|PMID:30718709|PMID:30822235|PMID:30924848|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:7493155|PMID:7754251|PMID:8015786|PMID:8019570|PMID:8058286|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8449524|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9361310|PMID:9443872|PMID:9536098 12429351 PRPH2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10193525|PMID:10532447|PMID:10747861|PMID:10800708|PMID:10862101|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11427722|PMID:11704030|PMID:11801511|PMID:11853584|PMID:12045052|PMID:12925772|PMID:1427912|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16767206|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22842402|PMID:22863181|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:24938718|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25494902|PMID:25675413|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26061163|PMID:26103963|PMID:26161267|PMID:26667666|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27208204|PMID:27365499|PMID:27813578|PMID:27884173|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28838317|PMID:29155698|PMID:29276052|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30217183|PMID:30718709|PMID:30822235|PMID:30924848|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:33576794|PMID:33691693|PMID:34906036|PMID:7493155|PMID:7754251|PMID:8015786|PMID:8019570|PMID:8058286|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8449524|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8943002|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9361310|PMID:9443872|PMID:9536098|PMID:9673478 12429351 PRPH2 peripherin 2 gene DOID:11105 fundus albipunctatus ISO RGD:735709 D RGD:7240710 20180130 OMIM 12429351 PRPH2 peripherin 2 gene DOID:11105 fundus albipunctatus ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens, autosomal dominant PMID:10627133|PMID:11139241|PMID:12042139|PMID:14510799|PMID:15579992|PMID:16767206|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17653047|PMID:17698758|PMID:18310263|PMID:19038374|PMID:20213611|PMID:21071739|PMID:22863181|PMID:24629188|PMID:25268133|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25741868|PMID:26061163|PMID:26161267|PMID:27365499|PMID:27884173|PMID:28041643|PMID:28492530|PMID:28492532|PMID:29555955|PMID:29847639|PMID:30718709|PMID:30726412|PMID:31213501|PMID:31429209|PMID:32531846|PMID:32717343|PMID:33546218|PMID:8111389|PMID:8485575|PMID:8485576|PMID:8675410|PMID:8994365|PMID:9279751|PMID:9331261 12429351 PRPH2 peripherin 2 gene DOID:1417 choroid disease ISO RGD:735709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Choroidal Dystrophy PMID:25741868|PMID:28492532|PMID:32531846 12429351 PRPH2 peripherin 2 gene DOID:14791 Leber congenital amaurosis ISO RGD:735709 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.L185P(human) PMID:23847139|REF_RGD_ID:8553209 12429351 PRPH2 peripherin 2 gene DOID:4448 macular degeneration ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy PMID:10532447|PMID:10627133|PMID:12042139|PMID:16916875|PMID:17504850|PMID:17653047|PMID:19038374|PMID:19243827|PMID:21071739|PMID:22003107|PMID:22863181|PMID:25082885|PMID:25447119|PMID:25675413|PMID:25741868|PMID:26061163|PMID:27365499|PMID:279751|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29453956|PMID:29555955|PMID:29847639|PMID:30718709|PMID:30726412|PMID:31213501|PMID:31429209|PMID:31618092|PMID:32531846|PMID:32717343|PMID:33546218|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8675410|PMID:8994365|PMID:9279751|PMID:9443872 12429351 PRPH2 peripherin 2 gene DOID:5679 retinal disease ISO RGD:3549 D RGD:9068941 20200609 RGD PMID:8320859|REF_RGD_ID:8553226 12429351 PRPH2 peripherin 2 gene DOID:630 genetic disease ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:9052636 12429351 PRPH2 peripherin 2 gene DOID:8466 retinal degeneration ISO RGD:735709 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:874A>G(p.S212G)(human) PMID:18050133|REF_RGD_ID:8553215 12429351 PRPH2 peripherin 2 gene DOID:8466 retinal degeneration ISO RGD:735709 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.P210R(human) PMID:7862413|REF_RGD_ID:8553219 12429351 PRPH2 peripherin 2 gene DOID:8466 retinal degeneration ISO RGD:735709 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.S27F(human) PMID:9052636|REF_RGD_ID:8553212 12429351 PRPH2 peripherin 2 gene DOID:8466 retinal degeneration ISO RGD:735710 D RGD:9068941 20200609 RGD PMID:10888879|PMID:2918924|REF_RGD_ID:8553191|REF_RGD_ID:8553193 12429351 PRPH2 peripherin 2 gene DOID:8501 fundus dystrophy ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10532447|PMID:10627133|PMID:10800708|PMID:10862101|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11427722|PMID:11704030|PMID:11801511|PMID:11853584|PMID:11934323|PMID:12042139|PMID:12045052|PMID:12566026|PMID:12925772|PMID:1427912|PMID:14510799|PMID:14557183|PMID:15370544|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16340530|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:20213611|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25390130|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25741868|PMID:25999674|PMID:26061163|PMID:26355662|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27208204|PMID:27365499|PMID:27813578|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28761320|PMID:29155698|PMID:29186038|PMID:29276052|PMID:29343940|PMID:29453956|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30217183|PMID:30718709|PMID:30726412|PMID:30731082|PMID:30822235|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:32037395|PMID:32531846|PMID:32581362|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8943002|PMID:8994365|PMID:9052636|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9443872|PMID:9536098 12429351 PRPH2 peripherin 2 gene DOID:8501 fundus dystrophy no_association ISO RGD:735709 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.E304Q,G338D(human) PMID:9690896|REF_RGD_ID:8553224 12429351 PRPH2 peripherin 2 gene DOID:9002891 Vitelliform Macular Dystrophy 2 ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Best vitelliform macular dystrophy, multifocal | ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 PMID:10193525|PMID:10532447|PMID:11139241|PMID:11485765|PMID:11704030|PMID:12045052|PMID:1427912|PMID:16019073|PMID:16113362|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18050133|PMID:19038374|PMID:19262438|PMID:20640437|PMID:21071739|PMID:22863181|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25082885|PMID:25675413|PMID:25741868|PMID:25803555|PMID:26061163|PMID:26103963|PMID:26667666|PMID:26796962|PMID:26842753|PMID:27365499|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29343940|PMID:29555955|PMID:30718709|PMID:31213501|PMID:31456290|PMID:31574917|PMID:32531846|PMID:33546218|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7862413|PMID:8015786|PMID:8045710|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9338584|PMID:9443872|PMID:9536098 12429351 PRPH2 peripherin 2 gene DOID:9003803 Retinitis Pigmentosa, Late-Onset Dominant ISO RGD:735709 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.C214S(human) PMID:8244346|REF_RGD_ID:8553240 12429351 PRPH2 peripherin 2 gene DOID:9005836 Central Areolar Choroidal Dystrophy 2 ISO RGD:735709 D RGD:7240710 20180130 OMIM 12429351 PRPH2 peripherin 2 gene DOID:9005836 Central Areolar Choroidal Dystrophy 2 ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Choroidal dystrophy, central areolar 2 | ClinVar Annotator: match by term: MACULAR DYSTROPHY, PROGRESSIVE PMID:10193525|PMID:10532447|PMID:11139241|PMID:11139263|PMID:11801511|PMID:14510799|PMID:14557183|PMID:16019073|PMID:16767206|PMID:16799052|PMID:16832026|PMID:16885924|PMID:17653047|PMID:17698758|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:22003107|PMID:22334370|PMID:22863181|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:25082885|PMID:25268133|PMID:25474345|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26321861|PMID:26667666|PMID:26796962|PMID:27813578|PMID:27884173|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:7493155|PMID:8015786|PMID:8302543|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872 12429351 PRPH2 peripherin 2 gene DOID:9006630 Stargardt Disease 1 ISO RGD:735709 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt disease 1 PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:279751|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 12429351 PRPH2 peripherin 2 gene DOID:9006630 Stargardt Disease 1 ISO RGD:735709 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt Disease, Recessive PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 12429351 PRPH2 peripherin 2 gene DOID:9006630 Stargardt Disease 1 ISO RGD:735709 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1 PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:27813578|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 12429351 PRPH2 peripherin 2 gene DOID:9006630 Stargardt Disease 1 ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt disease 1 PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:27813578|PMID:279751|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32531846|PMID:32581362|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 12429351 PRPH2 peripherin 2 gene DOID:9006630 Stargardt Disease 1 ISO RGD:735709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:27813578|PMID:279751|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32037395|PMID:32531846|PMID:32581362|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 12429351 PRPH2 peripherin 2 gene DOID:9007965 Vitelliform Macular Dystrophy 3 ISO RGD:735709 D RGD:7240710 20190227 OMIM 12429351 PRPH2 peripherin 2 gene DOID:9007965 Vitelliform Macular Dystrophy 3 ISO RGD:735709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adult onset vitelliform dystrophy | ClinVar Annotator: match by term: FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH OR WITHOUT CHOROIDAL NEOVASCULARIZATION | ClinVar Annotator: match by term: Macular dystrophy, vitelliform, adult-onset | ClinVar Annotator: match by term: Vitelliform macular dystrophy 3 PMID:10532447|PMID:11139241|PMID:12566026|PMID:1427912|PMID:14510799|PMID:15370544|PMID:16113362|PMID:16767206|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:20213611|PMID:21071739|PMID:22003107|PMID:22466463|PMID:22863181|PMID:24629188|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25472526|PMID:25474345|PMID:25675413|PMID:25741868|PMID:26061163|PMID:26161267|PMID:26796962|PMID:27365499|PMID:27884173|PMID:28492530|PMID:28492532|PMID:28559085|PMID:29453956|PMID:29555955|PMID:30718709|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31618092|PMID:32531846|PMID:32717343|PMID:33546218|PMID:4142662|PMID:7519821|PMID:7862413|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8675410|PMID:8994365|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9443872|PMID:9536098 12429351 PRPH2 peripherin 2 gene DOID:905 Zellweger syndrome ISO RGD:735709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12429351 PRPH2 peripherin 2 gene DOID:980 choroidal sclerosis ISO RGD:735709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central areolar choroidal dystrophy PMID:25741868 12429351 PRPH2 peripherin 2 gene DOID:9821 Choroideremia ISO RGD:735709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive tapetochoroidal dystrophy PMID:11139241|PMID:11704030|PMID:16113362|PMID:16799052|PMID:17576681|PMID:23950152|PMID:25082885|PMID:25675413|PMID:25741868|PMID:26842753|PMID:28492532|PMID:28559085|PMID:32531846|PMID:9536098 12429358 PGK2 phosphoglycerate kinase 2 gene DOID:630 genetic disease ISO RGD:1315351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429363 ZMYM6 zinc finger MYM-type containing 6 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1345857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12429363 ZMYM6 zinc finger MYM-type containing 6 gene DOID:630 genetic disease ISO RGD:1345857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429395 EMILIN1 elastin microfibril interfacer 1 gene DOID:0050645 arterial tortuosity syndrome ISO RGD:1322548 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Arterial tortuosity PMID:28492532 12429395 EMILIN1 elastin microfibril interfacer 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1322548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12429395 EMILIN1 elastin microfibril interfacer 1 gene DOID:10283 prostate cancer ISO RGD:1322548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12429395 EMILIN1 elastin microfibril interfacer 1 gene DOID:10763 hypertension ISO RGD:1322549 D RGD:9068941 20200609 RGD PMID:16530041|REF_RGD_ID:1580958 12429395 EMILIN1 elastin microfibril interfacer 1 gene DOID:630 genetic disease ISO RGD:1322548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26462740 12429395 EMILIN1 elastin microfibril interfacer 1 gene DOID:9000162 Distal Hereditary Motor Neuronopathy Type 10 ISO RGD:1322548 D RGD:7240710 20221102 OMIM 12429395 EMILIN1 elastin microfibril interfacer 1 gene DOID:9000162 Distal Hereditary Motor Neuronopathy Type 10 ISO RGD:1322548 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type X PMID:26462740|PMID:31978608 12429406 MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like gene DOID:0080074 neural tube defect ISO RGD:1550697 D RGD:9068941 20200609 RGD PMID:23267094|REF_RGD_ID:12914149 12429406 MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like gene DOID:0080074 neural tube defect ISO RGD:1550697 D RGD:9068941 20220825 MouseDO OMIM:182940 | OMIM:301410 | OMIM:601634 12429406 MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like gene DOID:0080074 neural tube defect susceptibility ISO RGD:1342984 D RGD:9068941 20200609 RGD DNA:deletion/insertion polymorphism:splice junction:rs3832406(human) PMID:19777576|REF_RGD_ID:12914147 12429406 MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like gene DOID:630 genetic disease ISO RGD:1342984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429406 MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1550697 D RGD:9068941 20200609 RGD PMID:23267094|REF_RGD_ID:12914149 12429436 GLMN glomulin, FKBP associated protein gene DOID:11294 arteriovenous malformation ISO RGD:1315584 D RGD:9068941 20200609 RGD glomuvenous malformations PMID:11845407|REF_RGD_ID:1598992 12429436 GLMN glomulin, FKBP associated protein gene DOID:2431 glomus tumor ISO RGD:1315584 D RGD:9068941 20200609 RGD glomuvenous malformations PMID:11845407|REF_RGD_ID:1598992 12429436 GLMN glomulin, FKBP associated protein gene DOID:630 genetic disease ISO RGD:1315584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429436 GLMN glomulin, FKBP associated protein gene DOID:7996 familial glomangioma ISO RGD:1315584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial glomangioma PMID:11175297|PMID:11845407|PMID:15689436|PMID:23375657|PMID:23801931|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28655553 12429436 GLMN glomulin, FKBP associated protein gene DOID:9002428 Blue Rubber Bleb Nevus Syndrome ISO RGD:1315584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bean syndrome | ClinVar Annotator: match by term: Blue rubber bleb nevus 12429436 GLMN glomulin, FKBP associated protein gene DOID:9003557 Glomus Vagale Tumors ISO RGD:1315584 D RGD:7240710 20190315 OMIM 12429436 GLMN glomulin, FKBP associated protein gene DOID:9003557 Glomus Vagale Tumors ISO RGD:1315584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glomuvenous malformations | ClinVar Annotator: match by term: VENOUS MALFORMATIONS WITH GLOMUS CELLS PMID:11175297|PMID:11845407|PMID:15689436|PMID:23375657|PMID:23801931|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28655553 12429462 GSPT2 G1 to S phase transition 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12429462 GSPT2 G1 to S phase transition 2 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1354196 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 12429462 GSPT2 G1 to S phase transition 2 gene DOID:12849 autistic disorder ISO RGD:1354196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12429462 GSPT2 G1 to S phase transition 2 gene DOID:630 genetic disease ISO RGD:1354196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429468 TSPYL1 TSPY like 1 gene DOID:0060163 body dysmorphic disorder ISO RGD:1348944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 12429468 TSPYL1 TSPY like 1 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1348944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 12429468 TSPYL1 TSPY like 1 gene DOID:0080600 COVID-19 ISO RGD:1348944 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12429468 TSPYL1 TSPY like 1 gene DOID:14447 gonadal dysgenesis ISO RGD:1348944 D RGD:9068941 20200609 RGD sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800 PMID:15273283|REF_RGD_ID:1599672 12429468 TSPYL1 TSPY like 1 gene DOID:630 genetic disease ISO RGD:1348944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429468 TSPYL1 TSPY like 1 gene DOID:9000938 Sudden Infant Death with Dysgenesis of the Testes Syndrome ISO RGD:1348944 D RGD:7240710 20180130 OMIM 12429468 TSPYL1 TSPY like 1 gene DOID:9000938 Sudden Infant Death with Dysgenesis of the Testes Syndrome ISO RGD:1348944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden infant death with dysgenesis of the testes syndrome PMID:15273283|PMID:25741868 12429468 TSPYL1 TSPY like 1 gene DOID:9007 sudden infant death syndrome ISO RGD:1348944 D RGD:9068941 20200609 RGD sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800 PMID:15273283|REF_RGD_ID:1599672 12429473 HOXA3 homeobox A3 gene DOID:11198 DiGeorge syndrome ISO RGD:1557652 D RGD:9068941 20220825 MouseDO OMIM:188400 12429473 HOXA3 homeobox A3 gene DOID:1682 congenital heart disease ISO RGD:1344896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1673020 12429473 HOXA3 homeobox A3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12429473 HOXA3 homeobox A3 gene DOID:630 genetic disease ISO RGD:1344896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429473 HOXA3 homeobox A3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12429473 HOXA3 homeobox A3 gene DOID:9002213 Lymphatic Abnormalities ISO RGD:1344896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1673020 12429473 HOXA3 homeobox A3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1344896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1673020 12429499 PTDSS2 phosphatidylserine synthase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1317384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 12429499 PTDSS2 phosphatidylserine synthase 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:1317384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 12429499 PTDSS2 phosphatidylserine synthase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1317384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 12429499 PTDSS2 phosphatidylserine synthase 2 gene DOID:630 genetic disease ISO RGD:1317384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429521 NHLRC3 NHL repeat containing 3 gene DOID:630 genetic disease ISO RGD:1605503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429535 KSR2 kinase suppressor of ras 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1351357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:24209692|PMID:25741868 12429535 KSR2 kinase suppressor of ras 2 gene DOID:11981 morbid obesity ISO RGD:1351357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 12429535 KSR2 kinase suppressor of ras 2 gene DOID:630 genetic disease ISO RGD:1351357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12429535 KSR2 kinase suppressor of ras 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:24209692|PMID:25741868 12429563 HIC2 HIC ZBTB transcriptional repressor 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1313307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:25741868 12429563 HIC2 HIC ZBTB transcriptional repressor 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1313307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 12429563 HIC2 HIC ZBTB transcriptional repressor 2 gene DOID:11372 megacolon ISO RGD:1313307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12429563 HIC2 HIC ZBTB transcriptional repressor 2 gene DOID:12849 autistic disorder ISO RGD:1313307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12429563 HIC2 HIC ZBTB transcriptional repressor 2 gene DOID:630 genetic disease ISO RGD:1313307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429576 ZBTB8B zinc finger and BTB domain containing 8B gene DOID:630 genetic disease ISO RGD:2307066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429587 C2CD2 C2 calcium dependent domain containing 2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1351796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 12429587 C2CD2 C2 calcium dependent domain containing 2 gene DOID:0110266 cataract 9 multiple types ISO RGD:1351796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 12429587 C2CD2 C2 calcium dependent domain containing 2 gene DOID:630 genetic disease ISO RGD:1351796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429587 C2CD2 C2 calcium dependent domain containing 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1351796 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 12429587 C2CD2 C2 calcium dependent domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12429587 C2CD2 C2 calcium dependent domain containing 2 gene DOID:9263 homocystinuria ISO RGD:1351796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 12429587 C2CD2 C2 calcium dependent domain containing 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12429609 UGT8 UDP glycosyltransferase 8 gene DOID:630 genetic disease ISO RGD:1343181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429619 RNF44 ring finger protein 44 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1316271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12429619 RNF44 ring finger protein 44 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1316271 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 12429619 RNF44 ring finger protein 44 gene DOID:630 genetic disease ISO RGD:1316271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429619 RNF44 ring finger protein 44 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1316271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12429619 RNF44 ring finger protein 44 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1316271 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 12429652 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:736866 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12429652 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:71101 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:22112382|REF_RGD_ID:11040992 12429652 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:12308 Dubin-Johnson syndrome ISO RGD:71101 D RGD:9068941 20200609 RGD PMID:14731123|REF_RGD_ID:1598620 12429652 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:12700 hyperprolactinemia ISO RGD:71101 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:23486593|REF_RGD_ID:11535162 12429652 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:13580 cholestasis ISO RGD:71101 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:18096675|PMID:23486593|REF_RGD_ID:11535162|REF_RGD_ID:2301060 12429652 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:13580 cholestasis ISO RGD:736866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461449 12429652 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:1793 pancreatic cancer severity ISO RGD:736866 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:15688370|REF_RGD_ID:2325200 12429652 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:2741 bilirubin metabolic disorder ISO RGD:71101 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:16543292|REF_RGD_ID:2301069 12429652 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:557 kidney disease severity ISO RGD:71101 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:17855625|REF_RGD_ID:2301062 12429652 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:630 genetic disease ISO RGD:736866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429652 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:684 hepatocellular carcinoma ISO RGD:71101 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:25842354|REF_RGD_ID:11535155 12429652 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:7148 rheumatoid arthritis ISO RGD:736866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 12429652 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:783 end stage renal disease ISO RGD:71101 D RGD:9068941 20200609 RGD protein:decreased expression:intestine PMID:17135344|REF_RGD_ID:2301067 12429652 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:9005369 Hepatomegaly ISO RGD:736866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12429652 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:71101 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:20487213|REF_RGD_ID:11541075 12429652 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12429652 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:736866 D RGD:9068941 20200609 RGD PMID:26512967|REF_RGD_ID:11081145 12429652 ABCC3 ATP binding cassette subfamily C member 3 gene DOID:9452 fatty liver disease ISO RGD:71101 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:17640958|REF_RGD_ID:2301064 12429687 GABRE gamma-aminobutyric acid type A receptor subunit epsilon gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:68441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 12429687 GABRE gamma-aminobutyric acid type A receptor subunit epsilon gene DOID:12849 autistic disorder ISO RGD:68441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12429687 GABRE gamma-aminobutyric acid type A receptor subunit epsilon gene DOID:630 genetic disease ISO RGD:68441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429687 GABRE gamma-aminobutyric acid type A receptor subunit epsilon gene DOID:684 hepatocellular carcinoma ISO RGD:68441 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 12429687 GABRE gamma-aminobutyric acid type A receptor subunit epsilon gene DOID:9007661 Dwarfism ISO RGD:68441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 12429700 TLX1 T cell leukemia homeobox 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1351719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1717256 12429700 TLX1 T cell leukemia homeobox 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1351719 D RGD:9068941 20200609 RGD PMID:1683261|REF_RGD_ID:1599439 12429700 TLX1 T cell leukemia homeobox 1 gene DOID:0090020 split hand-foot malformation ISO RGD:1351719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation PMID:21681106 12429700 TLX1 T cell leukemia homeobox 1 gene DOID:2529 splenic disease ISO RGD:1351719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7908720 12429700 TLX1 T cell leukemia homeobox 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1351719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20972433 12429700 TLX1 T cell leukemia homeobox 1 gene DOID:630 genetic disease ISO RGD:1351719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429700 TLX1 T cell leukemia homeobox 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1351719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20972433 12429700 TLX1 T cell leukemia homeobox 1 gene DOID:9008692 Aneuploidy ISO RGD:1351719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20972433 12429705 SHH sonic hedgehog signaling molecule gene DOID:0050651 atrioventricular septal defect ISO RGD:736830 D RGD:9068941 20200609 RGD PMID:19538633|REF_RGD_ID:12801428 12429705 SHH sonic hedgehog signaling molecule gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:12926841|REF_RGD_ID:12801414 12429705 SHH sonic hedgehog signaling molecule gene DOID:0060041 autism spectrum disorder ISO RGD:736829 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:26691363|REF_RGD_ID:11561296 12429705 SHH sonic hedgehog signaling molecule gene DOID:0060041 autism spectrum disorder severity ISO RGD:736829 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21984201|REF_RGD_ID:12801412 12429705 SHH sonic hedgehog signaling molecule gene DOID:0060071 pre-malignant neoplasm ISO RGD:3673 D RGD:9068941 20211105 RGD PMID:30537251|REF_RGD_ID:150520178 12429705 SHH sonic hedgehog signaling molecule gene DOID:0060857 septooptic dysplasia ISO RGD:736829 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:25741868|PMID:35885948 12429705 SHH sonic hedgehog signaling molecule gene DOID:0080171 esophageal atresia/tracheoesophageal fistula ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:25003913|REF_RGD_ID:12801416 12429705 SHH sonic hedgehog signaling molecule gene DOID:0080855 Parkinsonism treatment ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:25030123|REF_RGD_ID:12859032 12429705 SHH sonic hedgehog signaling molecule gene DOID:0110875 holoprosencephaly 3 ISO RGD:736829 D RGD:7240710 20180130 OMIM 12429705 SHH sonic hedgehog signaling molecule gene DOID:0110875 holoprosencephaly 3 ISO RGD:736829 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10479723|PMID:10556296|PMID:10631160|PMID:10749657|PMID:11471164|PMID:11479728|PMID:11857543|PMID:11919111|PMID:12503095|PMID:12567406|PMID:12709790|PMID:15107988|PMID:15292211|PMID:15942944|PMID:15942952|PMID:16199547|PMID:16254195|PMID:16282375|PMID:18655123|PMID:19057928|PMID:19478089|PMID:19533790|PMID:19561609|PMID:19603532|PMID:19920144|PMID:20157829|PMID:20425842|PMID:21416594|PMID:21940735|PMID:21976454|PMID:22354285|PMID:22683912|PMID:22791840|PMID:22859937|PMID:22897141|PMID:23370340|PMID:23476075|PMID:24033266|PMID:24095820|PMID:25569381|PMID:25741868|PMID:26467025|PMID:28127823|PMID:28284480|PMID:28492532|PMID:28518168|PMID:28588853|PMID:29205322|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32022405|PMID:32461654|PMID:32677110|PMID:32939873|PMID:8896572|PMID:9302262|PMID:9600232 12429705 SHH sonic hedgehog signaling molecule gene DOID:0110964 brachydactyly type A1 ISO RGD:736830 D RGD:9068941 20200609 RGD PMID:15841179|REF_RGD_ID:12798572 12429705 SHH sonic hedgehog signaling molecule gene DOID:0111380 solitary median maxillary central incisor ISO RGD:736829 D RGD:7240710 20180130 OMIM 12429705 SHH sonic hedgehog signaling molecule gene DOID:0111380 solitary median maxillary central incisor ISO RGD:736829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome PMID:11471164|PMID:12567406|PMID:15103725|PMID:15292211|PMID:25741868|PMID:28492532|PMID:32939873|PMID:9302262 12429705 SHH sonic hedgehog signaling molecule gene DOID:0111564 hypoplastic or aplastic tibia with polydactyly ISO RGD:736829 D RGD:9068941 20200609 RGD DNA:point mutations:enhancer:404G>A, 404G>C (human) PMID:19847792|REF_RGD_ID:12801438 12429705 SHH sonic hedgehog signaling molecule gene DOID:0111818 syndactyly type 4 ISO RGD:736829 D RGD:9068941 20200609 RGD DNA:duplication:enhancer PMID:18417549|REF_RGD_ID:12801418 12429705 SHH sonic hedgehog signaling molecule gene DOID:10487 Hirschsprung's disease ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:20972907|REF_RGD_ID:12801434 12429705 SHH sonic hedgehog signaling molecule gene DOID:10534 stomach cancer disease_progression ISO RGD:736829 D RGD:9068941 20211126 RGD PMID:22456124|REF_RGD_ID:150523844 12429705 SHH sonic hedgehog signaling molecule gene DOID:10629 microphthalmia ISO RGD:736829 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:31690747|PMID:32472575 12429705 SHH sonic hedgehog signaling molecule gene DOID:10976 membranous glomerulonephritis ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:24744439|REF_RGD_ID:12859042 12429705 SHH sonic hedgehog signaling molecule gene DOID:1148 polydactyly ISO RGD:736829 D RGD:9068941 20200609 RGD DNA:point mutation:enhancer:g.106954C>T (human) PMID:22903933|REF_RGD_ID:12801449 12429705 SHH sonic hedgehog signaling molecule gene DOID:1148 polydactyly ISO RGD:736830 D RGD:9068941 20200609 RGD PMID:10021368|PMID:14597572|REF_RGD_ID:12801421|REF_RGD_ID:12801429 12429705 SHH sonic hedgehog signaling molecule gene DOID:12849 autistic disorder ISO RGD:736829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12429705 SHH sonic hedgehog signaling molecule gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:24744439|REF_RGD_ID:12859042 12429705 SHH sonic hedgehog signaling molecule gene DOID:13548 secondary Parkinson disease ISO RGD:736829 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11771942 12429705 SHH sonic hedgehog signaling molecule gene DOID:13608 biliary atresia disease_progression ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:25746691|REF_RGD_ID:12802349 12429705 SHH sonic hedgehog signaling molecule gene DOID:1459 hypothyroidism ISO RGD:3673 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebellum PMID:18827446|REF_RGD_ID:2306294 12429705 SHH sonic hedgehog signaling molecule gene DOID:14679 VACTERL association ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:12632369|REF_RGD_ID:12801426 12429705 SHH sonic hedgehog signaling molecule gene DOID:2377 multiple sclerosis ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:18991353|REF_RGD_ID:12801440 12429705 SHH sonic hedgehog signaling molecule gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:736830 D RGD:9068941 20200609 RGD PMID:9115210|REF_RGD_ID:12802345 12429705 SHH sonic hedgehog signaling molecule gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:736830 D RGD:9068941 20220915 MouseDO OMIM:109400 12429705 SHH sonic hedgehog signaling molecule gene DOID:2513 basal cell carcinoma ISO RGD:736829 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:skin of body PMID:23284750|REF_RGD_ID:12801452 12429705 SHH sonic hedgehog signaling molecule gene DOID:2986 IgA glomerulonephritis ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:24744439|REF_RGD_ID:12859042 12429705 SHH sonic hedgehog signaling molecule gene DOID:3213 demyelinating disease treatment ISO RGD:736830 D RGD:9068941 20200609 RGD PMID:15128833|REF_RGD_ID:12801445 12429705 SHH sonic hedgehog signaling molecule gene DOID:3328 temporal lobe epilepsy ISO RGD:3673 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, temporal cortex PMID:21376786|REF_RGD_ID:12859046 12429705 SHH sonic hedgehog signaling molecule gene DOID:3328 temporal lobe epilepsy ISO RGD:736829 D RGD:9068941 20200609 RGD protein:increased expression:temporal cortex PMID:21376786|REF_RGD_ID:12859046 12429705 SHH sonic hedgehog signaling molecule gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:22324418|REF_RGD_ID:12879461 12429705 SHH sonic hedgehog signaling molecule gene DOID:4621 holoprosencephaly ISO RGD:736829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:29584859 12429705 SHH sonic hedgehog signaling molecule gene DOID:4621 holoprosencephaly treatment ISO RGD:736830 D RGD:9068941 20200609 RGD PMID:18338389|REF_RGD_ID:12801437 12429705 SHH sonic hedgehog signaling molecule gene DOID:5199 ureteral obstruction ISO RGD:736830 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nephron tubule epithelium PMID:22302193|REF_RGD_ID:12859047 12429705 SHH sonic hedgehog signaling molecule gene DOID:5844 myocardial infarction treatment ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:20052412|REF_RGD_ID:12879408 12429705 SHH sonic hedgehog signaling molecule gene DOID:630 genetic disease ISO RGD:736829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11479728|PMID:15292211|PMID:19603532|PMID:23476075|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654 12429705 SHH sonic hedgehog signaling molecule gene DOID:674 cleft palate ISO RGD:733158 D RGD:9068941 20200609 RGD PMID:17097601|REF_RGD_ID:12801424 12429705 SHH sonic hedgehog signaling molecule gene DOID:684 hepatocellular carcinoma ISO RGD:736829 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26189965 12429705 SHH sonic hedgehog signaling molecule gene DOID:784 chronic kidney disease ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:24744439|REF_RGD_ID:12859042 12429705 SHH sonic hedgehog signaling molecule gene DOID:784 chronic kidney disease ISO RGD:736830 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:24744439|REF_RGD_ID:12859042 12429705 SHH sonic hedgehog signaling molecule gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:24837681|REF_RGD_ID:12879409 12429705 SHH sonic hedgehog signaling molecule gene DOID:9000392 Fluoride Poisoning ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:25623978|REF_RGD_ID:12879410 12429705 SHH sonic hedgehog signaling molecule gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:3673 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:23933201|REF_RGD_ID:12859044 12429705 SHH sonic hedgehog signaling molecule gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:22994531|REF_RGD_ID:12879407 12429705 SHH sonic hedgehog signaling molecule gene DOID:9001276 Failure to Thrive ISO RGD:736829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 12429705 SHH sonic hedgehog signaling molecule gene DOID:9001471 Anorectal Malformations ISO RGD:3673 D RGD:9068941 20200609 RGD mRNA:decreased expression:hindgut PMID:17161201|REF_RGD_ID:1599527 12429705 SHH sonic hedgehog signaling molecule gene DOID:9001471 Anorectal Malformations ISO RGD:736829 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, rectum PMID:25148746|REF_RGD_ID:12798569 12429705 SHH sonic hedgehog signaling molecule gene DOID:9001471 Anorectal Malformations severity ISO RGD:736829 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:rectum PMID:20146882|REF_RGD_ID:12798571 12429705 SHH sonic hedgehog signaling molecule gene DOID:9002457 Experimental Arthritis treatment ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:25821409|REF_RGD_ID:12879456 12429705 SHH sonic hedgehog signaling molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:15892298|REF_RGD_ID:12801423 12429705 SHH sonic hedgehog signaling molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:736830 D RGD:9068941 20200609 RGD PMID:18991353|REF_RGD_ID:12801440 12429705 SHH sonic hedgehog signaling molecule gene DOID:9002811 Facial Dysmorphism with Multiple Malformations ISO RGD:736829 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27585885 12429705 SHH sonic hedgehog signaling molecule gene DOID:9003769 Patterson Stevenson Syndrome ISO RGD:736829 D RGD:9068941 20200609 RGD DNA:duplication:enhancer PMID:18417549|REF_RGD_ID:12801418 12429705 SHH sonic hedgehog signaling molecule gene DOID:9004237 Hyperoxic Lung Injury ISO RGD:3673 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:22641469|REF_RGD_ID:12859031 12429705 SHH sonic hedgehog signaling molecule gene DOID:9004387 Isolated Microphthalmia with Coloboma 5 ISO RGD:736829 D RGD:7240710 20180130 OMIM 12429705 SHH sonic hedgehog signaling molecule gene DOID:9004387 Isolated Microphthalmia with Coloboma 5 ISO RGD:736829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 5 PMID:10556296|PMID:12503095|PMID:15292211|PMID:18414213|PMID:20425842|PMID:25741868|PMID:28492532|PMID:32939873|PMID:9302262 12429705 SHH sonic hedgehog signaling molecule gene DOID:9005351 Persistent Cloaca ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:24524909|REF_RGD_ID:12801442 12429705 SHH sonic hedgehog signaling molecule gene DOID:9005351 Persistent Cloaca ISO RGD:736830 D RGD:9068941 20200609 RGD PMID:24524909|REF_RGD_ID:12801442 12429705 SHH sonic hedgehog signaling molecule gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:736830 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:24744439|REF_RGD_ID:12859042 12429705 SHH sonic hedgehog signaling molecule gene DOID:9006294 Congenital Limb Deformities ISO RGD:736830 D RGD:9068941 20200609 RGD PMID:15677727|REF_RGD_ID:12801441 12429705 SHH sonic hedgehog signaling molecule gene DOID:9006637 Schizencephaly ISO RGD:736829 D RGD:7240710 20190327 OMIM 12429705 SHH sonic hedgehog signaling molecule gene DOID:9006637 Schizencephaly ISO RGD:736829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schizencephaly PMID:10556296|PMID:12709790|PMID:15292211|PMID:18655123|PMID:19533790|PMID:19603532|PMID:19920144|PMID:20157829|PMID:20425842|PMID:21416594|PMID:25741868|PMID:26467025|PMID:28127823|PMID:28492532|PMID:32939873|PMID:9302262 12429705 SHH sonic hedgehog signaling molecule gene DOID:9007462 Partial Agenesis of Corpus Callosum ISO RGD:736829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Partial agenesis of the corpus callosum 12429705 SHH sonic hedgehog signaling molecule gene DOID:9007798 Preaxial Polydactyly II ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:18463159|PMID:20569257|REF_RGD_ID:12801447|REF_RGD_ID:12801448 12429705 SHH sonic hedgehog signaling molecule gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3673 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:18228117|REF_RGD_ID:2306299 12429705 SHH sonic hedgehog signaling molecule gene DOID:9008296 Eye Abnormalities ISO RGD:736829 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24973920 12429705 SHH sonic hedgehog signaling molecule gene DOID:9009097 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies ISO RGD:736829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PMID:15292211|PMID:22897141|PMID:25741868|PMID:28492532|PMID:29205322|PMID:9302262 12429705 SHH sonic hedgehog signaling molecule gene DOID:9250 acrocallosal syndrome ISO RGD:736829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome PMID:25741868|PMID:29321670 12429705 SHH sonic hedgehog signaling molecule gene DOID:9253 gastrointestinal stromal tumor disease_progression ISO RGD:736829 D RGD:9068941 20211105 RGD PMID:17007023|REF_RGD_ID:150520173 12429705 SHH sonic hedgehog signaling molecule gene DOID:9256 colorectal cancer ISO RGD:736829 D RGD:9068941 20211105 RGD PMID:22901214|REF_RGD_ID:150520174 12429705 SHH sonic hedgehog signaling molecule gene DOID:9282 ocular hypertension ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:20071678|REF_RGD_ID:2324982 12429712 TNFRSF13B TNF receptor superfamily member 13B gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1344563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 12429712 TNFRSF13B TNF receptor superfamily member 13B gene DOID:0050777 Joubert syndrome ISO RGD:1344563 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12429712 TNFRSF13B TNF receptor superfamily member 13B gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1344563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12429712 TNFRSF13B TNF receptor superfamily member 13B gene DOID:0080006 bone development disease ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 12429712 TNFRSF13B TNF receptor superfamily member 13B gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1344563 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO ICOS DEFECT | ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:23956760|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25569260|PMID:25741868|PMID:26046366|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 12429712 TNFRSF13B TNF receptor superfamily member 13B gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1344563 D RGD:7240710 20190710 OMIM 12429712 TNFRSF13B TNF receptor superfamily member 13B gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1344563 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:15077010|PMID:16007086|PMID:16007087|PMID:16199547|PMID:16299065|PMID:16618819|PMID:16630947|PMID:16782407|PMID:16899196|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17464555|PMID:17492055|PMID:17556024|PMID:17576681|PMID:17697196|PMID:17947292|PMID:17983875|PMID:18200502|PMID:18496551|PMID:18509552|PMID:18954329|PMID:18978466|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19605846|PMID:19629655|PMID:19779048|PMID:20156508|PMID:20652909|PMID:20676093|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21675890|PMID:21724465|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22922270|PMID:22983507|PMID:23225259|PMID:23237420|PMID:23956760|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25205549|PMID:25326637|PMID:25569260|PMID:25741868|PMID:25959671|PMID:26046366|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29077208|PMID:29114388|PMID:29146883|PMID:29531467|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30090215|PMID:30290665|PMID:30301590|PMID:30665703|PMID:30723478|PMID:30739909|PMID:30993493|PMID:31203817|PMID:31530980|PMID:31618753|PMID:31681265|PMID:32135276|PMID:32185379|PMID:32499645|PMID:32581362|PMID:33046446|PMID:33258288|PMID:33425813|PMID:33726816|PMID:33859323|PMID:34093558|PMID:34426522|PMID:34441032|PMID:34573280|PMID:34975878|PMID:8072530|PMID:9536098 12429712 TNFRSF13B TNF receptor superfamily member 13B gene DOID:11162 respiratory failure ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Respiratory failure PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 12429712 TNFRSF13B TNF receptor superfamily member 13B gene DOID:11701 selective IgA deficiency disease ISO RGD:1344563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IgAD1 PMID:17697196|PMID:18200502|PMID:18978466|PMID:18981294|PMID:19629655|PMID:21419480|PMID:21458042|PMID:21850030|PMID:22627058|PMID:22697072|PMID:22884984|PMID:25741868|PMID:27123465|PMID:28492532|PMID:30290665|PMID:31681265|PMID:34975878 12429712 TNFRSF13B TNF receptor superfamily member 13B gene DOID:11836 clubfoot ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital Talipes Equinovarus PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 12429712 TNFRSF13B TNF receptor superfamily member 13B gene DOID:12177 common variable immunodeficiency ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Common Variable Immune Deficiency, Dominant | ClinVar Annotator: match by term: Common variable agammaglobulinemia | ClinVar Annotator: match by term: Common variable immunodeficiency PMID:15077010|PMID:16007086|PMID:16007087|PMID:16299065|PMID:16630947|PMID:16782407|PMID:16899196|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17464555|PMID:17492055|PMID:17556024|PMID:17697196|PMID:17947292|PMID:17983875|PMID:18200502|PMID:18496551|PMID:18509552|PMID:18978466|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19605846|PMID:19629655|PMID:19779048|PMID:20156508|PMID:20676093|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21675890|PMID:21724465|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:23956760|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26046366|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30090215|PMID:30290665|PMID:30665703|PMID:30723478|PMID:30739909|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33046446|PMID:33258288|PMID:33726816|PMID:34426522|PMID:34975878|PMID:8072530 12429712 TNFRSF13B TNF receptor superfamily member 13B gene DOID:12849 autistic disorder ISO RGD:1344563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12429712 TNFRSF13B TNF receptor superfamily member 13B gene DOID:13832 patent ductus arteriosus ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Patency of the ductus arteriosus PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 12429712 TNFRSF13B TNF receptor superfamily member 13B gene DOID:1826 epilepsy ISO RGD:1344563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:17464555|PMID:20652909|PMID:25741868|PMID:28492532|PMID:33859323|PMID:34441032 12429712 TNFRSF13B TNF receptor superfamily member 13B gene DOID:3082 interstitial lung disease ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Interstitial lung disease PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 12429712 TNFRSF13B TNF receptor superfamily member 13B gene DOID:630 genetic disease ISO RGD:1344563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12429712 TNFRSF13B TNF receptor superfamily member 13B gene DOID:674 cleft palate ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 12429712 TNFRSF13B TNF receptor superfamily member 13B gene DOID:850 lung disease ISO RGD:1344563 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chronic lung disease PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 12429712 TNFRSF13B TNF receptor superfamily member 13B gene DOID:9000998 Brain Injuries ISO RGD:1344563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 12429712 TNFRSF13B TNF receptor superfamily member 13B gene DOID:9001895 Immunoglobulin A Deficiency 2 ISO RGD:1344563 D RGD:7240710 20180130 OMIM 12429712 TNFRSF13B TNF receptor superfamily member 13B gene DOID:9001895 Immunoglobulin A Deficiency 2 ISO RGD:1344563 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IgA, selective deficiency of, TACI related | ClinVar Annotator: match by term: Immunoglobulin A deficiency 2 PMID:15077010|PMID:16007086|PMID:16007087|PMID:16299065|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17947292|PMID:17983875|PMID:18496551|PMID:18509552|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19605846|PMID:19629655|PMID:19779048|PMID:20156508|PMID:20676093|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23225259|PMID:23237420|PMID:23956760|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26046366|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30301590|PMID:30665703|PMID:30723478|PMID:30739909|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33046446|PMID:33258288|PMID:33726816|PMID:34426522|PMID:8072530 12429712 TNFRSF13B TNF receptor superfamily member 13B gene DOID:9005616 Micrognathism ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 12429712 TNFRSF13B TNF receptor superfamily member 13B gene DOID:9007769 Pseudarthrosis ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pseudoarthrosis PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 12429712 TNFRSF13B TNF receptor superfamily member 13B gene DOID:9074 systemic lupus erythematosus ISO RGD:1618388 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 12429712 TNFRSF13B TNF receptor superfamily member 13B gene DOID:9538 multiple myeloma ISO RGD:1344563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23955597 12429725 SERPINB2 serpin family B member 2 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1343432 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 12429725 SERPINB2 serpin family B member 2 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1343432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 12429725 SERPINB2 serpin family B member 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1343432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 12429725 SERPINB2 serpin family B member 2 gene DOID:574 peripheral nervous system disease ISO RGD:1343432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 12429725 SERPINB2 serpin family B member 2 gene DOID:630 genetic disease ISO RGD:1343432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429725 SERPINB2 serpin family B member 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1343432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 12429725 SERPINB2 serpin family B member 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1343432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 12429739 ATP5MK ATP synthase membrane subunit k gene DOID:0111749 mitochondrial complex V (ATP synthase) deficiency nuclear type 6 ISO RGD:1347198 D RGD:7240710 20191211 OMIM 12429739 ATP5MK ATP synthase membrane subunit k gene DOID:0111749 mitochondrial complex V (ATP synthase) deficiency nuclear type 6 ISO RGD:1347198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6 PMID:25741868|PMID:29917077 12429750 ERICH4 glutamate rich 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:2299179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12429750 ERICH4 glutamate rich 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:2299179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12429750 ERICH4 glutamate rich 4 gene DOID:2340 craniosynostosis ISO RGD:2299179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 12429750 ERICH4 glutamate rich 4 gene DOID:630 genetic disease ISO RGD:2299179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429750 ERICH4 glutamate rich 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:2299179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12429750 ERICH4 glutamate rich 4 gene DOID:9269 maple syrup urine disease ISO RGD:2299179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12429757 RNASE12 ribonuclease A family member 12 (inactive) gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1353641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 12429757 RNASE12 ribonuclease A family member 12 (inactive) gene DOID:630 genetic disease ISO RGD:1353641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429763 RAPGEF5 Rap guanine nucleotide exchange factor 5 gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1343059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 12429763 RAPGEF5 Rap guanine nucleotide exchange factor 5 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1343059 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A 12429763 RAPGEF5 Rap guanine nucleotide exchange factor 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12429763 RAPGEF5 Rap guanine nucleotide exchange factor 5 gene DOID:630 genetic disease ISO RGD:1343059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429763 RAPGEF5 Rap guanine nucleotide exchange factor 5 gene DOID:670 amphetamine abuse ISO RGD:1343059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 12429763 RAPGEF5 Rap guanine nucleotide exchange factor 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343059 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 12429865 RHBG Rh family B glycoprotein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1351825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12429865 RHBG Rh family B glycoprotein gene DOID:0111940 immunodeficiency 42 ISO RGD:1351825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12429865 RHBG Rh family B glycoprotein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1351825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12429865 RHBG Rh family B glycoprotein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1351825 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12429865 RHBG Rh family B glycoprotein gene DOID:1540 parathyroid carcinoma ISO RGD:1351825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12429865 RHBG Rh family B glycoprotein gene DOID:5812 MHC class II deficiency ISO RGD:1351825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12429865 RHBG Rh family B glycoprotein gene DOID:630 genetic disease ISO RGD:1351825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429865 RHBG Rh family B glycoprotein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12429885 SF3A3 splicing factor 3a subunit 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1318668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12429885 SF3A3 splicing factor 3a subunit 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1318668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12429885 SF3A3 splicing factor 3a subunit 3 gene DOID:630 genetic disease ISO RGD:1318668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429909 VPS35 VPS35 retromer complex component gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1350372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:25741868 12429909 VPS35 VPS35 retromer complex component gene DOID:0060892 late onset Parkinson's disease ISO RGD:1350372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset 12429909 VPS35 VPS35 retromer complex component gene DOID:0060897 Parkinson's disease 17 ISO RGD:1350372 D RGD:7240710 20180130 OMIM 12429909 VPS35 VPS35 retromer complex component gene DOID:0060897 Parkinson's disease 17 ISO RGD:1350372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinson disease 17 PMID:17576681|PMID:18342564|PMID:21763482|PMID:21763483|PMID:22517097|PMID:22801713|PMID:22991136|PMID:23125461|PMID:23408866|PMID:25288323|PMID:25533483|PMID:25741868|PMID:26251041|PMID:26321632|PMID:27385586|PMID:28166811|PMID:28492532|PMID:28796472|PMID:28862745|PMID:9536098 12429909 VPS35 VPS35 retromer complex component gene DOID:0080514 Meier-Gorlin syndrome 3 ISO RGD:1350372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 PMID:25741868 12429909 VPS35 VPS35 retromer complex component gene DOID:0111041 glycogen storage disease IXb ISO RGD:1350372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 12429909 VPS35 VPS35 retromer complex component gene DOID:14330 Parkinson's disease ISO RGD:1350372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant PMID:25741868 12429909 VPS35 VPS35 retromer complex component gene DOID:5419 schizophrenia ISO RGD:1350372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12429909 VPS35 VPS35 retromer complex component gene DOID:630 genetic disease ISO RGD:1350372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429933 VPS72 vacuolar protein sorting 72 homolog gene DOID:0080422 Dravet syndrome ISO RGD:1314551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 12429933 VPS72 vacuolar protein sorting 72 homolog gene DOID:0111940 immunodeficiency 42 ISO RGD:1314551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12429933 VPS72 vacuolar protein sorting 72 homolog gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12429933 VPS72 vacuolar protein sorting 72 homolog gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314551 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12429933 VPS72 vacuolar protein sorting 72 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1314551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12429933 VPS72 vacuolar protein sorting 72 homolog gene DOID:5812 MHC class II deficiency ISO RGD:1314551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12429933 VPS72 vacuolar protein sorting 72 homolog gene DOID:630 genetic disease ISO RGD:1314551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429933 VPS72 vacuolar protein sorting 72 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12429945 ADISSP adipose secreted signaling protein gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1323352 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12429945 ADISSP adipose secreted signaling protein gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1323352 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12429945 ADISSP adipose secreted signaling protein gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1323352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 12429960 NPM2 nucleophosmin/nucleoplasmin 2 gene DOID:630 genetic disease ISO RGD:737293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429972 FBXW10B F-box and WD repeat domain containing 10B gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:1350394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA PMID:25741868 12429972 FBXW10B F-box and WD repeat domain containing 10B gene DOID:12849 autistic disorder ISO RGD:1350394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12429996 NOL9 nucleolar protein 9 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1605957 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12429996 NOL9 nucleolar protein 9 gene DOID:630 genetic disease ISO RGD:1605957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12429996 NOL9 nucleolar protein 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12430014 CDT1 chromatin licensing and DNA replication factor 1 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1604278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:11992493|PMID:21358632|PMID:22333897|PMID:23023959|PMID:24033266|PMID:25741868 12430014 CDT1 chromatin licensing and DNA replication factor 1 gene DOID:0060350 adenine phosphoribosyltransferase deficiency ISO RGD:1604278 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency PMID:25741868|PMID:28492532 12430014 CDT1 chromatin licensing and DNA replication factor 1 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1604278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 12430014 CDT1 chromatin licensing and DNA replication factor 1 gene DOID:0070290 primary autosomal recessive microcephaly 6 ISO RGD:1604278 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive PMID:25741868 12430014 CDT1 chromatin licensing and DNA replication factor 1 gene DOID:0080515 Meier-Gorlin syndrome 4 ISO RGD:1604278 D RGD:7240710 20190424 OMIM 12430014 CDT1 chromatin licensing and DNA replication factor 1 gene DOID:0080515 Meier-Gorlin syndrome 4 ISO RGD:1604278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 4 PMID:11477602|PMID:11992493|PMID:16199547|PMID:18414213|PMID:21358631|PMID:21358632|PMID:22333897|PMID:23023959|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33338304 12430014 CDT1 chromatin licensing and DNA replication factor 1 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1604278 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12430014 CDT1 chromatin licensing and DNA replication factor 1 gene DOID:0111391 mucopolysaccharidosis IVA ISO RGD:1604278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:25545067|PMID:25741868|PMID:28492532|PMID:34387910 12430014 CDT1 chromatin licensing and DNA replication factor 1 gene DOID:14780 KBG syndrome ISO RGD:1604278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31690835 12430014 CDT1 chromatin licensing and DNA replication factor 1 gene DOID:630 genetic disease ISO RGD:1604278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12430014 CDT1 chromatin licensing and DNA replication factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1604278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12430014 CDT1 chromatin licensing and DNA replication factor 1 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1604278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12430014 CDT1 chromatin licensing and DNA replication factor 1 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1604278 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35048507 12430030 LRP12 LDL receptor related protein 12 gene DOID:0081297 oculopharyngodistal myopathy 1 ISO RGD:1312675 D RGD:7240710 20200722 OMIM 12430030 LRP12 LDL receptor related protein 12 gene DOID:0081297 oculopharyngodistal myopathy 1 ISO RGD:1312675 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oculopharyngodistal myopathy 1 PMID:25741868 12430030 LRP12 LDL receptor related protein 12 gene DOID:0111590 Cohen syndrome ISO RGD:1312675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 12430030 LRP12 LDL receptor related protein 12 gene DOID:11719 oculopharyngeal muscular dystrophy ISO RGD:1312675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31332380 12430030 LRP12 LDL receptor related protein 12 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1312675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 PMID:25741868 12430030 LRP12 LDL receptor related protein 12 gene DOID:630 genetic disease ISO RGD:1312675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430043 LRRC66 leucine rich repeat containing 66 gene DOID:630 genetic disease ISO RGD:1602410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430052 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1345497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12430052 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1345497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 12430052 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:14557 primary pulmonary hypertension ISO RGD:1345497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12430052 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:1824 status epilepticus ISO RGD:61997 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus, astrocyte PMID:18671295|REF_RGD_ID:2316522 12430052 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:61997 D RGD:9068941 20200903 RGD PMID:32209028|REF_RGD_ID:38549370 12430052 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:630 genetic disease ISO RGD:1345497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12430052 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:6432 pulmonary hypertension ISO RGD:1345497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30365877 12430052 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:6432 pulmonary hypertension severity ISO XCO:0000642 D RGD:9068941 20220204 RGD PMID:31347976|REF_RGD_ID:151347452 12430052 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1345497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12430052 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:9006572 Primary Pulmonary Hypertension, 4 ISO RGD:1345497 D RGD:7240710 20180130 OMIM 12430052 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:9006572 Primary Pulmonary Hypertension, 4 ISO RGD:1345497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 4 PMID:23883380|PMID:24033266|PMID:25741868|PMID:26387786|PMID:28492532|PMID:28889099|PMID:29743074|PMID:30578397 12430052 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:9007096 Stroke ISO RGD:1345497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 12430052 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:9007402 Gliosis ISO RGD:1345497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18671295 12430052 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:9008681 Deafness ISO RGD:61997 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain, neuron PMID:17884299|REF_RGD_ID:2316516 12430052 KCNK3 potassium two pore domain channel subfamily K member 3 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1345497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:23883380 12430058 H4C14 H4 clustered histone 14 gene DOID:1059 intellectual disability ISO RGD:1342856 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12430058 H4C14 H4 clustered histone 14 gene DOID:630 genetic disease ISO RGD:1342856 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430068 WDR62 WD repeat domain 62 gene DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations ISO RGD:1315489 D RGD:7240710 20180130 OMIM 12430068 WDR62 WD repeat domain 62 gene DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations ISO RGD:1315489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | ClinVar Annotator: match by term: Microcephaly, cortical malformations, and intellectual disability | ClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2 PMID:10573015|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20729831|PMID:20890278|PMID:20890279|PMID:21834044|PMID:21961505|PMID:22775483|PMID:23065275|PMID:24228726|PMID:25303973|PMID:25741868|PMID:26077850|PMID:26467025|PMID:28004384|PMID:28377545|PMID:28492532|PMID:28756000|PMID:31130284|PMID:33604570|PMID:3440221|PMID:34402213|PMID:9536098 12430068 WDR62 WD repeat domain 62 gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:1315489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary microcephaly PMID:20729831|PMID:21961505|PMID:23065275|PMID:24228726|PMID:25303973|PMID:25741868|PMID:28492532|PMID:28756000|PMID:31130284 12430068 WDR62 WD repeat domain 62 gene DOID:0080918 polymicrogyria ISO RGD:1315489 D RGD:9068941 20200609 RGD DNA:deletion mutations:exons:p.S696fsX4 (c.2083delA),p.Q918GfsX18 (c.2472_2473delAG)(human) PMID:21834044|REF_RGD_ID:11541050 12430068 WDR62 WD repeat domain 62 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1315489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23341463 12430068 WDR62 WD repeat domain 62 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1315489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12430068 WDR62 WD repeat domain 62 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1315489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12430068 WDR62 WD repeat domain 62 gene DOID:1059 intellectual disability ISO RGD:1315489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:18414213|PMID:25741868|PMID:27784895|PMID:28492532|PMID:30167849|PMID:9536098 12430068 WDR62 WD repeat domain 62 gene DOID:10907 microcephaly ISO RGD:1315489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive 12430068 WDR62 WD repeat domain 62 gene DOID:1826 epilepsy ISO RGD:1315489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12430068 WDR62 WD repeat domain 62 gene DOID:630 genetic disease ISO RGD:1315489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:20729831|PMID:21961505|PMID:23065275|PMID:24228726|PMID:25303973|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28756000|PMID:31130284|PMID:33604570 12430068 WDR62 WD repeat domain 62 gene DOID:684 hepatocellular carcinoma ISO RGD:1315489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12430068 WDR62 WD repeat domain 62 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1315489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:18414213|PMID:25741868|PMID:28492532|PMID:33604570 12430068 WDR62 WD repeat domain 62 gene DOID:9006534 Nervous System Malformations ISO RGD:1315489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 12430068 WDR62 WD repeat domain 62 gene DOID:9007661 Dwarfism ISO RGD:1553526 D RGD:9068941 20200609 RGD PMID:24875059|REF_RGD_ID:11541053 12430068 WDR62 WD repeat domain 62 gene DOID:9008086 Developmental Disabilities ISO RGD:1315489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12430104 PRSS23 serine protease 23 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1346659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial exudative vitreoretinopathy PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 12430104 PRSS23 serine protease 23 gene DOID:0060844 Norrie disease ISO RGD:1346659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrophia bulborum hereditaria PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 12430104 PRSS23 serine protease 23 gene DOID:0080600 COVID-19 ISO RGD:1346659 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12430104 PRSS23 serine protease 23 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1346659 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant PMID:12172548|PMID:14507768|PMID:15035989|PMID:15488808|PMID:15733276|PMID:15981244|PMID:17955262|PMID:20340138|PMID:20938005|PMID:21097938|PMID:21681106|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 12430104 PRSS23 serine protease 23 gene DOID:1059 intellectual disability ISO RGD:1346659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12430104 PRSS23 serine protease 23 gene DOID:13025 retinopathy of prematurity ISO RGD:1346659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinopathy of prematurity PMID:15733276|PMID:25741868|PMID:28492532 12430104 PRSS23 serine protease 23 gene DOID:1909 melanoma ISO RGD:1346659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 12430104 PRSS23 serine protease 23 gene DOID:630 genetic disease ISO RGD:1346659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12430104 PRSS23 serine protease 23 gene DOID:7765 Coats disease ISO RGD:1346659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative retinopathy PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 12430104 PRSS23 serine protease 23 gene DOID:8501 fundus dystrophy ISO RGD:1346659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 12430117 ASAH2 N-acylsphingosine amidohydrolase 2 gene DOID:10608 celiac disease ISO RGD:1605058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 12430117 ASAH2 N-acylsphingosine amidohydrolase 2 gene DOID:11372 megacolon ISO RGD:1605058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12430117 ASAH2 N-acylsphingosine amidohydrolase 2 gene DOID:409 liver disease ISO RGD:1605058 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15946935 12430117 ASAH2 N-acylsphingosine amidohydrolase 2 gene DOID:630 genetic disease ISO RGD:1605058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430143 HOXC12 homeobox C12 gene DOID:630 genetic disease ISO RGD:1321500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430143 HOXC12 homeobox C12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12430147 SECISBP2L SECIS binding protein 2 like gene DOID:2717 Bloom syndrome ISO RGD:1605418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12430147 SECISBP2L SECIS binding protein 2 like gene DOID:630 genetic disease ISO RGD:1605418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430147 SECISBP2L SECIS binding protein 2 like gene DOID:9005172 Lung Neoplasms ISO RGD:1605418 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28604730 12430147 SECISBP2L SECIS binding protein 2 like gene DOID:9256 colorectal cancer ISO RGD:1605418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12430173 SEMA7A semaphorin 7A gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313074 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 12430173 SEMA7A semaphorin 7A gene DOID:2717 Bloom syndrome ISO RGD:1313074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12430173 SEMA7A semaphorin 7A gene DOID:5419 schizophrenia ISO RGD:1313074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12430173 SEMA7A semaphorin 7A gene DOID:630 genetic disease ISO RGD:1313074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430173 SEMA7A semaphorin 7A gene DOID:9008279 Progressive Familial Intrahepatic Cholestasis 11 ISO RGD:1313074 D RGD:7240710 20220518 OMIM 12430173 SEMA7A semaphorin 7A gene DOID:9008279 Progressive Familial Intrahepatic Cholestasis 11 ISO RGD:1313074 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 11 PMID:34585848 12430173 SEMA7A semaphorin 7A gene DOID:9256 colorectal cancer ISO RGD:1313074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12430191 CBR3 carbonyl reductase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1320224 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12430191 CBR3 carbonyl reductase 3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1320224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 12430191 CBR3 carbonyl reductase 3 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1320224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 12430191 CBR3 carbonyl reductase 3 gene DOID:630 genetic disease ISO RGD:1320224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430191 CBR3 carbonyl reductase 3 gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1320224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 12430191 CBR3 carbonyl reductase 3 gene DOID:9007364 Mouth Neoplasms ISO RGD:1320224 D RGD:9068941 20200609 RGD mRNA:decreased expression:oral squamous cell carcinoma (human) PMID:19088887|REF_RGD_ID:2316291 12430198 CASP6 caspase 6 gene DOID:0060074 ductal carcinoma in situ ISO RGD:732006 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:10574243|REF_RGD_ID:2301339 12430198 CASP6 caspase 6 gene DOID:1002 endometritis treatment ISO RGD:70967 D RGD:9068941 20200609 RGD PMID:26920733|REF_RGD_ID:13782281 12430198 CASP6 caspase 6 gene DOID:10286 prostate carcinoma ISO RGD:70967 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:11406539|REF_RGD_ID:1582381 12430198 CASP6 caspase 6 gene DOID:10652 Alzheimer's disease ISO RGD:732006 D RGD:9068941 20200609 RGD PMID:12633148|REF_RGD_ID:13782269 12430198 CASP6 caspase 6 gene DOID:11132 prostatic hypertrophy ISO RGD:732006 D RGD:9068941 20200609 RGD PMID:15507514|REF_RGD_ID:2301337 12430198 CASP6 caspase 6 gene DOID:1824 status epilepticus ISO RGD:70967 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:hippocampus PMID:15749343|REF_RGD_ID:2301314 12430198 CASP6 caspase 6 gene DOID:2316 brain ischemia ISO RGD:70967 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:11311984|REF_RGD_ID:2301331 12430198 CASP6 caspase 6 gene DOID:3525 middle cerebral artery infarction ISO RGD:70967 D RGD:9068941 20200609 RGD PMID:26868427|REF_RGD_ID:13782346 12430198 CASP6 caspase 6 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732006 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:16231180|REF_RGD_ID:13434909 12430198 CASP6 caspase 6 gene DOID:4001 ovarian carcinoma ISO RGD:732006 D RGD:9068941 20200609 RGD PMID:17283169|REF_RGD_ID:2301336 12430198 CASP6 caspase 6 gene DOID:630 genetic disease ISO RGD:732006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430198 CASP6 caspase 6 gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:732006 D RGD:9068941 20220414 RGD human cells in mouse model PMID:31952546|REF_RGD_ID:151667904 12430198 CASP6 caspase 6 gene DOID:9004009 Reperfusion Injury ISO RGD:70967 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:small intestine mucosa PMID:15010362|REF_RGD_ID:2301320 12430198 CASP6 caspase 6 gene DOID:9004332 Osteoarthritis, Experimental treatment ISO RGD:70967 D RGD:9068941 20200609 RGD PMID:29621761|REF_RGD_ID:13782275 12430198 CASP6 caspase 6 gene DOID:9004484 Sepsis ISO RGD:70967 D RGD:9068941 20200609 RGD protein:increased activity:thymus, T cell PMID:11086028|REF_RGD_ID:2301332 12430198 CASP6 caspase 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70967 D RGD:9068941 20200609 RGD protein:increased activity:heart left ventricle PMID:15662549|REF_RGD_ID:2301316 12430198 CASP6 caspase 6 gene DOID:9008939 Breast Neoplasms ISO RGD:732006 D RGD:9068941 20200609 RGD PMID:15210759|REF_RGD_ID:2301338 12430198 CASP6 caspase 6 gene DOID:9008939 Breast Neoplasms ISO RGD:732006 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:10574243|REF_RGD_ID:2301339 12430209 HYCC2 hyccin PI4KA lipid kinase complex subunit 2 gene DOID:630 genetic disease ISO RGD:1605824 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430209 HYCC2 hyccin PI4KA lipid kinase complex subunit 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1605824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 12430209 HYCC2 hyccin PI4KA lipid kinase complex subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12430209 HYCC2 hyccin PI4KA lipid kinase complex subunit 2 gene DOID:9004657 Weight Gain ISO RGD:1605824 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12430242 EI24 EI24 autophagy associated transmembrane protein gene DOID:0110877 holoprosencephaly 11 ISO RGD:1320441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 12430242 EI24 EI24 autophagy associated transmembrane protein gene DOID:0111723 Jacobsen Syndrome ISO RGD:1320441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12430242 EI24 EI24 autophagy associated transmembrane protein gene DOID:1059 intellectual disability ISO RGD:1320441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 12430242 EI24 EI24 autophagy associated transmembrane protein gene DOID:5419 schizophrenia ISO RGD:1320441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12430242 EI24 EI24 autophagy associated transmembrane protein gene DOID:630 genetic disease ISO RGD:1320441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430242 EI24 EI24 autophagy associated transmembrane protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12430242 EI24 EI24 autophagy associated transmembrane protein gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12430242 EI24 EI24 autophagy associated transmembrane protein gene DOID:9007661 Dwarfism ISO RGD:1320441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12430260 ELMOD1 ELMO domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1349956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12430260 ELMOD1 ELMO domain containing 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1349956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12430260 ELMOD1 ELMO domain containing 1 gene DOID:630 genetic disease ISO RGD:1349956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430260 ELMOD1 ELMO domain containing 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12430279 MYSM1 Myb like, SWIRM and MPN domains 1 gene DOID:614 lymphopenia ISO RGD:1551048 D RGD:9068941 20200609 RGD PMID:22184403|REF_RGD_ID:9589161 12430279 MYSM1 Myb like, SWIRM and MPN domains 1 gene DOID:630 genetic disease ISO RGD:1602839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12430279 MYSM1 Myb like, SWIRM and MPN domains 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1602839 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snps:introns: IVS1-1269C>T, IVS6+1700G>A (rs2811893, rs12092121) (human) PMID:21310492|REF_RGD_ID:9589162 12430279 MYSM1 Myb like, SWIRM and MPN domains 1 gene DOID:9006327 Bone Marrow Failure Syndrome 4 ISO RGD:1602839 D RGD:7240710 20190315 OMIM 12430279 MYSM1 Myb like, SWIRM and MPN domains 1 gene DOID:9006327 Bone Marrow Failure Syndrome 4 ISO RGD:1602839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bone marrow failure syndrome 4 PMID:16199547|PMID:22184403|PMID:24288411|PMID:25741868|PMID:26220525|PMID:28115216|PMID:28492532 12430303 KCNG4 potassium voltage-gated channel modifier subfamily G member 4 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1318394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 12430303 KCNG4 potassium voltage-gated channel modifier subfamily G member 4 gene DOID:630 genetic disease ISO RGD:1318394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430311 STYXL2 serine/threonine/tyrosine interacting like 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1603599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12430311 STYXL2 serine/threonine/tyrosine interacting like 2 gene DOID:630 genetic disease ISO RGD:1603599 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430311 STYXL2 serine/threonine/tyrosine interacting like 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:0050777 Joubert syndrome ISO RGD:1316979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:0080171 esophageal atresia/tracheoesophageal fistula ISO RGD:1316979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20177395|PMID:20639400|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:28492532|PMID:29368626|PMID:32359370|PMID:32885271|PMID:33471991|PMID:34026625|PMID:34585738|PMID:36988593 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:1316979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:25741868|PMID:26315354|PMID:26467025|PMID:26976419|PMID:28135145|PMID:28492532|PMID:30333958|PMID:32885271 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1316979 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868|PMID:28492532 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:0111097 Fanconi anemia complementation group J ISO RGD:1316979 D RGD:7240710 20180130 OMIM 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:0111097 Fanconi anemia complementation group J ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group J PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25846551|PMID:25980754|PMID:25981591|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26296696|PMID:26315354|PMID:26416542|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28991257|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30716324|PMID:30728895|PMID:30833958|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31265121|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32830346|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33028645|PMID:33120919|PMID:33134171|PMID:33224012|PMID:33309985|PMID:33313162|PMID:33359728|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33804961|PMID:33840814|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34072463|PMID:34204722|PMID:34284872|PMID:34585738|PMID:34607609|PMID:35186721|PMID:35205822|PMID:35263119|PMID:35467778|PMID:35734982|PMID:35986085 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:0111097 Fanconi anemia complementation group J ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group J PMID:36988593|PMID:9536098 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:10534 stomach cancer ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19339519|PMID:19763819|PMID:20068231|PMID:20159562|PMID:20177395|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:22792074|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25646469|PMID:25741868|PMID:25877891|PMID:25980754|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:27498913|PMID:28492532|PMID:28495237|PMID:29368626|PMID:29752822|PMID:29922827|PMID:30792206|PMID:30982232|PMID:31214711|PMID:31742824|PMID:32359370|PMID:32566746|PMID:32885271|PMID:32980694|PMID:33313162|PMID:33413596|PMID:33471991|PMID:33619228|PMID:34026625|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35986085|PMID:36988593 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1316979 D RGD:9068941 20200609 RGD associated with Down Syndrome;protein:increased ubiquitination:frontal cortex (human) PMID:25391381|REF_RGD_ID:11252150 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:11372 megacolon ISO RGD:1316979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:13636 Fanconi anemia ISO RGD:1316979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20177395|PMID:20639400|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:28492532|PMID:29368626|PMID:32359370|PMID:32885271|PMID:33471991|PMID:34026625|PMID:34585738 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:13636 Fanconi anemia ISO RGD:1316979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20177395|PMID:20639400|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:28492532|PMID:29368626|PMID:32359370|PMID:32885271|PMID:33471991|PMID:34026625|PMID:34585738|PMID:36988593 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:14250 Down syndrome ISO RGD:1316979 D RGD:9068941 20200609 RGD protein:increased ubiquitination:frontal cortex (human) PMID:25391381|REF_RGD_ID:11252150 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:1520 colon carcinoma ISO RGD:1316979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:16116423|PMID:16280053|PMID:17033622|PMID:18483852|PMID:21964575|PMID:22264603|PMID:24728327|PMID:25058500|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26709662|PMID:26790966|PMID:27107905|PMID:27165003|PMID:27471560|PMID:28492532|PMID:30256826|PMID:30306255|PMID:31214711|PMID:31366178|PMID:31786208 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:1588 thrombocytopenia ISO RGD:1316979 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:15613547|REF_RGD_ID:11252148 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer ISO RGD:1316979 D RGD:7240710 20180711 OMIM 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer ISO RGD:1316979 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20177395|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23644138|PMID:23935105|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24487782|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25722345|PMID:25741868|PMID:25980754|PMID:26140431|PMID:26206375|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27378695|PMID:27462233|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27978560|PMID:28135145|PMID:28202063|PMID:28423363|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28783718|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29335925|PMID:29360161|PMID:29368626|PMID:29625052|PMID:29641532|PMID:29922827|PMID:30086788|PMID:30093976|PMID:30230034|PMID:30262796|PMID:30264118|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30651582|PMID:30982232|PMID:31159747|PMID:31214711|PMID:31265121|PMID:31300551|PMID:31341520|PMID:31422574|PMID:31512090|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31882575|PMID:32019284|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32566746|PMID:32659497|PMID:32959997|PMID:33471991|PMID:33619228|PMID:9536098 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer ISO RGD:1316979 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17145708|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18628483|PMID:18978354|PMID:19127258|PMID:19197335|PMID:19339519|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20177395|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22792074|PMID:23555315|PMID:23644138|PMID:24123366|PMID:24240112|PMID:24448499|PMID:2455662|PMID:24556621|PMID:24584348|PMID:24728327|PMID:24755471|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25722345|PMID:25741868|PMID:25980754|PMID:26140431|PMID:26206375|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27378695|PMID:27462233|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27978560|PMID:28135145|PMID:28202063|PMID:28423363|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28783718|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29335925|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30230034|PMID:30262796|PMID:30264118|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30613976|PMID:30651582|PMID:30982232|PMID:31159747|PMID:31214711|PMID:31300551|PMID:31422574|PMID:31512090|PMID:31589614|PMID:31642931|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31882575|PMID:32019284|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32959997|PMID:33028645|PMID:33471991|PMID:33619228|PMID:9536098 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer ISO RGD:1316979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17145708|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18628483|PMID:18978354|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20177395|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22792074|PMID:23555315|PMID:23644138|PMID:24123366|PMID:24240112|PMID:24448499|PMID:2455662|PMID:24556621|PMID:24584348|PMID:24728327|PMID:24755471|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25722345|PMID:25741868|PMID:25980754|PMID:26140431|PMID:26206375|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27378695|PMID:27462233|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27978560|PMID:28135145|PMID:28202063|PMID:28423363|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28783718|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29335925|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30230034|PMID:30262796|PMID:30264118|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30613976|PMID:30651582|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31300551|PMID:31422574|PMID:31512090|PMID:31589614|PMID:31642931|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31882575|PMID:32019284|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32885271|PMID:32959997|PMID:33028645|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:34026625|PMID:34284872|PMID:34585738|PMID:35467778|PMID:9536098 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17145708|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18628483|PMID:18978354|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20177395|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22792074|PMID:23555315|PMID:23644138|PMID:24123366|PMID:24240112|PMID:24448499|PMID:2455662|PMID:24556621|PMID:24584348|PMID:24728327|PMID:24755471|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25722345|PMID:25741868|PMID:25980754|PMID:26140431|PMID:26206375|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27462233|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27978560|PMID:28135145|PMID:28202063|PMID:28423363|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28783718|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29335925|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30230034|PMID:30262796|PMID:30264118|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30613976|PMID:30651582|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31300551|PMID:31422574|PMID:31512090|PMID:31589614|PMID:31642931|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31882575|PMID:32019284|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32885271|PMID:32959997|PMID:33028645|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33606809|PMID:33619228|PMID:33980423|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34585738|PMID:35205822|PMID:35467778|PMID:35734982|PMID:35986085|PMID:36988593|PMID:9536098 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer onset ISO RGD:1316979 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.P47A, p.M299I (human) PMID:11301010|REF_RGD_ID:1600525 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1316979 D RGD:9068941 20230511 RGD DNA:mutations:multiple (human) PMID:17033622|REF_RGD_ID:11252107 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1316979 D RGD:9068941 20230511 RGD DNA:snp:3' utr:C>A (rs7220740) (human) PMID:19536649|REF_RGD_ID:11252100 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1316979 D RGD:9068941 20230511 RGD DNA:snps, haplotype:introns:c.1935+977T>C, c.1473+3729A>G, c.1340+109G>A (rs11871753, rs16945628, rs2191248) (human) PMID:23357080|REF_RGD_ID:11252109 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:2394 ovarian cancer ISO RGD:1316979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20159562|PMID:20177395|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21964575|PMID:22006311|PMID:23555315|PMID:24240112|PMID:2455662|PMID:24556621|PMID:24728327|PMID:25186627|PMID:25741868|PMID:25783483|PMID:25980754|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26968956|PMID:27179029|PMID:27498913|PMID:28492532|PMID:28495237|PMID:29368626|PMID:29470806|PMID:29929473|PMID:30093976|PMID:30982232|PMID:31214711|PMID:31666926|PMID:32359370|PMID:32566746|PMID:32885271|PMID:33313162|PMID:33471991|PMID:33619228|PMID:34026625|PMID:34585738|PMID:36988593 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:3459 breast carcinoma ISO RGD:1316979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:12872252|PMID:16116423|PMID:16199547|PMID:17033622|PMID:18628483|PMID:19935797|PMID:20159562|PMID:21127055|PMID:21345144|PMID:21964575|PMID:23555315|PMID:24728327|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26921362|PMID:28135145|PMID:28423363|PMID:28492532|PMID:28767289|PMID:28961279|PMID:29368626|PMID:29641532|PMID:30322717|PMID:30414346|PMID:30426508|PMID:30651582|PMID:30982232|PMID:31159747|PMID:31300551|PMID:31325073|PMID:32283892|PMID:32658311|PMID:32659497|PMID:32885271|PMID:33471991|PMID:33840814|PMID:34284872|PMID:35467778 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:3744 cervical squamous cell carcinoma severity ISO RGD:1316979 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:uterine cervix, nucleus (human) PMID:24708616|REF_RGD_ID:11252104 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:4362 cervical cancer ISO RGD:1316979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cancer of cervix PMID:18483852|PMID:25741868|PMID:26467025|PMID:26790966|PMID:28492532|PMID:31214711|PMID:32566746 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:4905 pancreatic carcinoma ISO RGD:1316979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:16116423|PMID:17033622|PMID:21964575|PMID:25330149|PMID:25741868|PMID:28492532|PMID:29961768|PMID:31173646|PMID:31512090|PMID:31589614|PMID:32295079|PMID:32885271|PMID:33471991 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18628483|PMID:19127258|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20168331|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23555315|PMID:23613520|PMID:23644138|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25503501|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29368626|PMID:29625052|PMID:29667044|PMID:29922827|PMID:29929473|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30374176|PMID:30728895|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31214711|PMID:31558676|PMID:31666926|PMID:31822495|PMID:31844177|PMID:31871109|PMID:32019284|PMID:32295079|PMID:32359370|PMID:32566746|PMID:32959997|PMID:33309985|PMID:33471991 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18628483|PMID:19127258|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20168331|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23555315|PMID:23613520|PMID:23644138|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25503501|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29368626|PMID:29625052|PMID:29667044|PMID:29922827|PMID:29929473|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30374176|PMID:30728895|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31214711|PMID:31558676|PMID:31586946|PMID:31666926|PMID:31822495|PMID:31844177|PMID:31871109|PMID:32019284|PMID:32295079|PMID:32359370|PMID:32566746|PMID:32959997|PMID:33309985|PMID:33471991|PMID:33619228|PMID:35039564 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18628483|PMID:19127258|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20168331|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23555315|PMID:23613520|PMID:23644138|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25503501|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29922827|PMID:29929473|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30728895|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31214711|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32255556|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33619228|PMID:35039564 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18628483|PMID:19127258|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20168331|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23555315|PMID:23613520|PMID:23644138|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25503501|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29922827|PMID:29929473|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30728895|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31214711|PMID:31325073|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32255556|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33619228|PMID:33840814|PMID:35039564 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18510924|PMID:18628483|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20168331|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24487782|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30728895|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32255556|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33028645|PMID:33309985|PMID:33471991|PMID:33619228|PMID:33840814|PMID:34585738|PMID:35039564 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18510924|PMID:18628483|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24487782|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25877891|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30728895|PMID:30792206|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33552952|PMID:33619228|PMID:33840814|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18510924|PMID:18628483|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24487782|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25877891|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30728895|PMID:30792206|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33552952|PMID:33619228|PMID:33840814|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18510924|PMID:18628483|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24487782|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25877891|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30728895|PMID:30792206|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33840814|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25877891|PMID:25980754|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29752822|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30651582|PMID:30728895|PMID:30792206|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33120919|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33840814|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564|PMID:35205822|PMID:35467778|PMID:35734982 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25877891|PMID:25980754|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29752822|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30651582|PMID:30728895|PMID:30792206|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33120919|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33840814|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564|PMID:35205822|PMID:35467778|PMID:35734982|PMID:35986085|PMID:36988593 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:630 genetic disease ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:893 Wilson disease ISO RGD:1316979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hepatolenticular degeneration PMID:17033622|PMID:25186627|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26921362|PMID:28135145|PMID:28492532|PMID:28767289|PMID:31822495|PMID:32659497|PMID:33471991 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1316979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18628483|PMID:18978354|PMID:19127258|PMID:19197335|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20177395|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22792074|PMID:23161009|PMID:23555315|PMID:23644138|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24448499|PMID:2455662|PMID:24556621|PMID:24584348|PMID:24728327|PMID:25186627|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25722345|PMID:25741868|PMID:25807282|PMID:25980754|PMID:25981591|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27153395|PMID:27179029|PMID:27443514|PMID:27462233|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28873162|PMID:28911102|PMID:28991257|PMID:29053726|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29788478|PMID:29922827|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30651582|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31589614|PMID:31742824|PMID:31822495|PMID:31843900|PMID:31871109|PMID:31980526|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32830346|PMID:32885271|PMID:32959997|PMID:33028645|PMID:33134171|PMID:33309985|PMID:33359728|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33980423|PMID:34026625|PMID:34072463|PMID:34204722|PMID:34284872|PMID:34585738|PMID:35205822|PMID:35467778|PMID:35734982|PMID:35986085|PMID:36988593 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:1316979 D RGD:9068941 20200609 RGD DNA:snps:introns:c.2158-13912A>C, c.508-31C>G (rs2191249,rs4988344) (human) PMID:17342202|REF_RGD_ID:11251782 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:9004158 diffuse intrinsic pontine glioma ISO RGD:1316979 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma PMID:16116424|PMID:16116426|PMID:16973432|PMID:18510924|PMID:19099189|PMID:19150983|PMID:19379763|PMID:19442249|PMID:19519404|PMID:20639400|PMID:20980836|PMID:21345144|PMID:22024395|PMID:22287629|PMID:22582397|PMID:23161009|PMID:23276657|PMID:23644138|PMID:23935105|PMID:24448499|PMID:24487782|PMID:24573678|PMID:24728327|PMID:24895130|PMID:25374583|PMID:25583461|PMID:25741868|PMID:26315354|PMID:26596371|PMID:26689913|PMID:26790966|PMID:26921362|PMID:27107905|PMID:28492532|PMID:28911102|PMID:29922827|PMID:30322717|PMID:31265121|PMID:31341520|PMID:31822495|PMID:32427313|PMID:32542039|PMID:33028645|PMID:33471991|PMID:33619228|PMID:34585738 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:9004590 Acute Liver Failure ISO RGD:1307659 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:24748974|REF_RGD_ID:10755718 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25846551|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28888541|PMID:28911102|PMID:28961279|PMID:29020732|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29515789|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30230034|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30651582|PMID:30728895|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31666926|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:32019284|PMID:32231423|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32566746|PMID:32659497|PMID:32959997|PMID:33309985|PMID:33471991|PMID:33804961|PMID:34204722|PMID:34299313|PMID:9536098 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25846551|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28888541|PMID:28911102|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29515789|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30230034|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30651582|PMID:30728895|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31666926|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:32019284|PMID:32091409|PMID:32231423|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32566746|PMID:32659497|PMID:32959997|PMID:33028645|PMID:33309985|PMID:33471991|PMID:33619228|PMID:33804961|PMID:34011307|PMID:34204722|PMID:34299313|PMID:35039564|PMID:9536098 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25846551|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28961279|PMID:28991257|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29515789|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29961768|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30716324|PMID:30728895|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32659497|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33028645|PMID:33120919|PMID:33134171|PMID:33309985|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33619228|PMID:33804961|PMID:34011307|PMID:34034685|PMID:34204722|PMID:34299313|PMID:35039564|PMID:9536098 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25846551|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26416542|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28961279|PMID:28991257|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29485843|PMID:29515789|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30716324|PMID:30728895|PMID:30792206|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31970404|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32761968|PMID:32830346|PMID:32832836|PMID:32866190|PMID:32885271 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33120919|PMID:33134171|PMID:33309985|PMID:33313162|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33804961|PMID:33840814|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34204722|PMID:34284872|PMID:34299313|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564|PMID:35402282|PMID:35467778|PMID:9536098 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25846551|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26416542|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27854218|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28961279|PMID:28991257|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29515789|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30716324|PMID:30728895|PMID:30792206|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31970404|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32761968|PMID:32830346|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32957588 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33120919|PMID:33134171|PMID:33309985|PMID:33313162|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33804961|PMID:33840814|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072463|PMID:34204722|PMID:34284872|PMID:34299313|PMID:34585738|PMID:34607609|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564|PMID:35186721|PMID:35205822|PMID:35263119|PMID:35402282|PMID:35467778|PMID:35734982|PMID:9536098 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25846551|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26416542|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28961279|PMID:28991257|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29515789|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30716324|PMID:30728895|PMID:30792206|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31970404|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32761968|PMID:32830346|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32957588 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33120919|PMID:33134171|PMID:33309985|PMID:33313162|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33606809|PMID:33619228|PMID:33646313|PMID:33804961|PMID:33840814|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072463|PMID:34204722|PMID:34284872|PMID:34299313|PMID:34585738|PMID:34607609|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564|PMID:35186721|PMID:35205822|PMID:35263119|PMID:35402282|PMID:35467778|PMID:35734982|PMID:35986085|PMID:36200007|PMID:36988593|PMID:9536098 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:9007480 Hyperoxia ISO RGD:1550783 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:18948842|REF_RGD_ID:11252154 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:9007482 Bone Metastasis ISO RGD:1316979 D RGD:9068941 20200609 RGD associated with Breast Neoplasms; human gene in a mouse model PMID:22875853|REF_RGD_ID:11252149 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1316979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20177395|PMID:20639400|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:28492532|PMID:29368626|PMID:32359370|PMID:32885271|PMID:33471991|PMID:34026625|PMID:34585738|PMID:36988593 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1316979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20177395|PMID:20639400|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:28492532|PMID:28961279|PMID:29368626|PMID:32359370|PMID:32885271|PMID:33471991|PMID:34026625|PMID:34585738 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1316979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20177395|PMID:20639400|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:28492532|PMID:28961279|PMID:29368626|PMID:32359370|PMID:32885271|PMID:33471991|PMID:34026625|PMID:34585738|PMID:36988593 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:11301010|PMID:11865300|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14576433|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763152|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20307669|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21398687|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22406018|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23320739|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25640679|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25846551|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26416542|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26691941|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28300276|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28783718|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28961279|PMID:28991257|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29515789|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30716324|PMID:30728895|PMID:30792206|PMID:30809968|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31970404|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32761968|PMID:32830346|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33120919|PMID:33134171|PMID:33224012|PMID:33309985|PMID:33313162|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33606809|PMID:33619228|PMID:33646313|PMID:33804961|PMID:33840814|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072463|PMID:34204722|PMID:34284872|PMID:34299313|PMID:34585738|PMID:34607609|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564|PMID:35186721|PMID:35205822|PMID:35263119|PMID:35402282|PMID:35467778|PMID:35734982|PMID:35986085|PMID:36200007|PMID:36988593|PMID:9536098 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:9256 colorectal cancer ISO RGD:1316979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:28492532|PMID:30809968 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:9256 colorectal cancer severity ISO RGD:1316979 D RGD:9068941 20200609 RGD mRNA:increased expression:colon epithelium (human) PMID:22526901|REF_RGD_ID:11252117 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1316979 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.N568fsX9 (human) PMID:27165003|REF_RGD_ID:11252105 12430342 BRIP1 BRCA1 interacting helicase 1 gene DOID:9460 uterine corpus cancer ISO RGD:1316979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:16116423|PMID:17033622|PMID:21964575|PMID:24728327|PMID:25452441|PMID:25741868|PMID:25807282|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26845104|PMID:26921362|PMID:28492532|PMID:30254378|PMID:32295079|PMID:33471991 12430365 RBM18 RNA binding motif protein 18 gene DOID:630 genetic disease ISO RGD:1316593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430377 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12430377 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 PMID:24403048|PMID:25741868 12430377 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:0111040 glycogen storage disease IXd ISO RGD:733215 D RGD:7240710 20180130 OMIM 12430377 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:0111040 glycogen storage disease IXd ISO RGD:733215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXd PMID:12825073|PMID:15637709|PMID:16199547|PMID:17576681|PMID:18401027|PMID:22238410|PMID:2252364|PMID:25640679|PMID:25741868|PMID:26242992|PMID:28492532|PMID:29667327|PMID:32528171|PMID:7874115|PMID:8145916|PMID:9536098|PMID:9731190 12430377 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:733215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked PMID:26242992|PMID:28492532 12430377 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:12849 autistic disorder ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12430377 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:1459 hypothyroidism ISO RGD:621522 D RGD:9068941 20200609 RGD PMID:2774570|REF_RGD_ID:70269 12430377 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:2747 glycogen storage disease ISO RGD:733215 D RGD:9068941 20200609 RGD DNA:missense mutation PMID:12825073|REF_RGD_ID:1599893 12430377 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:574 peripheral nervous system disease ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 12430377 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:630 genetic disease ISO RGD:733215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12430377 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:8445 intestinal volvulus ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12430377 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:870 neuropathy ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 12430377 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621522 D RGD:9068941 20200609 RGD PMID:11692172|REF_RGD_ID:1599897 12430377 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 12430430 TARS2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:0111465 combined oxidative phosphorylation deficiency 21 ISO RGD:1344526 D RGD:7240710 20180130 OMIM 12430430 TARS2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:0111465 combined oxidative phosphorylation deficiency 21 ISO RGD:1344526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 21 PMID:24827421|PMID:25741868|PMID:28492532|PMID:33153448 12430430 TARS2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:0111940 immunodeficiency 42 ISO RGD:1344526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12430430 TARS2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12430430 TARS2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12430430 TARS2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:10967 spastic hemiplegia ISO RGD:1344526 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spastic hemiplegia PMID:25741868 12430430 TARS2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:1540 parathyroid carcinoma ISO RGD:1344526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12430430 TARS2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:5812 MHC class II deficiency ISO RGD:1344526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12430430 TARS2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1344526 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12430430 TARS2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:9001276 Failure to Thrive ISO RGD:1344526 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 12430430 TARS2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12430430 TARS2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12430458 ARX aristaless related homeobox gene DOID:0050453 lissencephaly ISO RGD:1557424 D RGD:9068941 20220825 MouseDO OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 12430458 ARX aristaless related homeobox gene DOID:0050562 West syndrome ISO RGD:1557424 D RGD:9068941 20200609 RGD PMID:19439424|REF_RGD_ID:11565833 12430458 ARX aristaless related homeobox gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1557424 D RGD:9068941 20220825 MouseDO OMIM:300088 | OMIM:300607 | OMIM:300672 | OMIM:308350 | OMIM:609304 | OMIM:612164 | OMIM:613402 | OMIM:613477 | OMIM:613720 | OMIM:613721 | OMIM:613722 | OMIM:614558 | OMIM:614959 | OMIM:615006 | OMIM:615338 | OMIM:615473 | OMIM:615476 12430458 ARX aristaless related homeobox gene DOID:0060309 syndromic X-linked intellectual disability ISO RGD:1557424 D RGD:9068941 20220825 MouseDO 12430458 ARX aristaless related homeobox gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12430458 ARX aristaless related homeobox gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1344380 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P353L (human) PMID:12177367|REF_RGD_ID:11565831 12430458 ARX aristaless related homeobox gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1557424 D RGD:9068941 20200609 RGD PMID:19605412|REF_RGD_ID:11565840 12430458 ARX aristaless related homeobox gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1344380 D RGD:7240710 20180130 OMIM 12430458 ARX aristaless related homeobox gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1344380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome PMID:10353782|PMID:10398246|PMID:11889467|PMID:11971879|PMID:12116222|PMID:12177367|PMID:12376938|PMID:12376946|PMID:12376949|PMID:12379852|PMID:12640086|PMID:12874418|PMID:14722918|PMID:15151512|PMID:15200506|PMID:15726411|PMID:15850492|PMID:16078051|PMID:16199547|PMID:16235064|PMID:16523516|PMID:16995578|PMID:17331656|PMID:17480217|PMID:17490853|PMID:17576681|PMID:17641262|PMID:17664401|PMID:17668384|PMID:18414213|PMID:18462864|PMID:19439424|PMID:19507262|PMID:19606478|PMID:19738637|PMID:20148114|PMID:20300201|PMID:20506206|PMID:2080994|PMID:21108397|PMID:21204215|PMID:21204226|PMID:21496008|PMID:22252899|PMID:22922607|PMID:23039062|PMID:23246292|PMID:23757202|PMID:24643514|PMID:24781210|PMID:25741868|PMID:26029707|PMID:26337422|PMID:26467025|PMID:28174645|PMID:28387369|PMID:28492532|PMID:29152528|PMID:29778428|PMID:30108342|PMID:30255221|PMID:31623504|PMID:31691806|PMID:3177452|PMID:32139178|PMID:32313153|PMID:32383243|PMID:32613771|PMID:33951346|PMID:5008734|PMID:8826464|PMID:9536098 12430458 ARX aristaless related homeobox gene DOID:0112021 non-syndromic X-linked intellectual disability ARX-related ISO RGD:1344380 D RGD:7240710 20180130 OMIM 12430458 ARX aristaless related homeobox gene DOID:0112021 non-syndromic X-linked intellectual disability ARX-related ISO RGD:1344380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 87 | ClinVar Annotator: match by term: Mental retardation, X-linked 52 PMID:10353782|PMID:10398246|PMID:11889467|PMID:11971879|PMID:12116222|PMID:12376938|PMID:12376946|PMID:12376949|PMID:12379852|PMID:12640086|PMID:14722918|PMID:15151512|PMID:15200506|PMID:15850492|PMID:16078051|PMID:16235064|PMID:17331656|PMID:17480217|PMID:17641262|PMID:18414213|PMID:19439424|PMID:19738637|PMID:20300201|PMID:20506206|PMID:2080994|PMID:21204215|PMID:21204226|PMID:21496008|PMID:25741868|PMID:26029707|PMID:28150386|PMID:28492532|PMID:30255221|PMID:3177452|PMID:32383243|PMID:32519823|PMID:33847015|PMID:5008734|PMID:8826464 12430458 ARX aristaless related homeobox gene DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome ISO RGD:1344380 D RGD:7240710 20180130 OMIM 12430458 ARX aristaless related homeobox gene DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome ISO RGD:1344380 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Corpus callosum agenesis-abnormal genitalia syndrome PMID:14722918|PMID:1605226|PMID:18414213|PMID:22252899|PMID:25741868|PMID:34298581 12430458 ARX aristaless related homeobox gene DOID:0112238 X-linked lissencephaly 2 ISO RGD:1344380 D RGD:7240710 20180130 OMIM 12430458 ARX aristaless related homeobox gene DOID:0112238 X-linked lissencephaly 2 ISO RGD:1344380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydranencephaly with abnormal genitalia | ClinVar Annotator: match by term: X-linked lissencephaly with abnormal genitalia PMID:11889467|PMID:11891829|PMID:12379852|PMID:12874405|PMID:12874418|PMID:14722918|PMID:17664401|PMID:18414213|PMID:18462864|PMID:19439424|PMID:19738637|PMID:20300201|PMID:22252899|PMID:22922607|PMID:23246292|PMID:23757202|PMID:24781210|PMID:25741868|PMID:26029707|PMID:28492532|PMID:32139178 12430458 ARX aristaless related homeobox gene DOID:1059 intellectual disability ISO RGD:1344380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:14722918|PMID:18414213|PMID:25741868|PMID:28492532 12430458 ARX aristaless related homeobox gene DOID:10908 hydrocephalus ISO RGD:1344380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868 12430458 ARX aristaless related homeobox gene DOID:12849 autistic disorder ISO RGD:1344380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12430458 ARX aristaless related homeobox gene DOID:14744 Partington syndrome ISO RGD:1344380 D RGD:7240710 20180130 OMIM 12430458 ARX aristaless related homeobox gene DOID:14744 Partington syndrome ISO RGD:1344380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Partington syndrome | ClinVar Annotator: match by term: X-linked spasticity-intellectual disability-epilepsy syndrome PMID:10353782|PMID:10398246|PMID:11889467|PMID:11971879|PMID:12116222|PMID:12376938|PMID:12376946|PMID:12376949|PMID:12640086|PMID:15151512|PMID:15200506|PMID:15850492|PMID:16078051|PMID:16235064|PMID:17331656|PMID:17480217|PMID:20506206|PMID:2080994|PMID:21204215|PMID:25741868|PMID:26029707|PMID:28492532|PMID:3177452|PMID:5008734|PMID:8826464 12430458 ARX aristaless related homeobox gene DOID:1826 epilepsy ISO RGD:1344380 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12430458 ARX aristaless related homeobox gene DOID:630 genetic disease ISO RGD:1344380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14722918|PMID:15248097|PMID:16235064|PMID:16523516|PMID:17331656|PMID:17641262|PMID:18414213|PMID:18462864|PMID:20384723|PMID:20506206|PMID:21204215|PMID:21204226|PMID:21426321|PMID:21496008|PMID:23039062|PMID:25741868|PMID:26029707|PMID:26467025|PMID:28492532 12430458 ARX aristaless related homeobox gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1344380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868 12430458 ARX aristaless related homeobox gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12430458 ARX aristaless related homeobox gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1344380 D RGD:9068941 20200609 RGD DNA:duplication:exon:c.428-451dup (human) PMID:15850492|REF_RGD_ID:11565836 12430458 ARX aristaless related homeobox gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1344380 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L33P (human) PMID:11971879|REF_RGD_ID:1599257 12430458 ARX aristaless related homeobox gene DOID:9009131 Ventriculomegaly ISO RGD:1344380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868 12430458 ARX aristaless related homeobox gene DOID:9352 type 2 diabetes mellitus ISO RGD:1562672 D RGD:9068941 20200609 RGD PMID:16772326|REF_RGD_ID:1599258 12430467 SP5 Sp5 transcription factor gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1318302 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 12430467 SP5 Sp5 transcription factor gene DOID:630 genetic disease ISO RGD:1318302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430467 SP5 Sp5 transcription factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12430473 HMX1 H6 family homeobox 1 gene DOID:0060482 oculoauricular syndrome ISO RGD:1312652 D RGD:7240710 20180130 OMIM 12430473 HMX1 H6 family homeobox 1 gene DOID:0060482 oculoauricular syndrome ISO RGD:1312652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculoauricular syndrome PMID:18423520|PMID:25574057|PMID:25741868|PMID:28492532 12430473 HMX1 H6 family homeobox 1 gene DOID:10629 microphthalmia ISO RGD:1312652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19379485 12430473 HMX1 H6 family homeobox 1 gene DOID:630 genetic disease ISO RGD:1312652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12430473 HMX1 H6 family homeobox 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1312652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19379485 12430477 WLS Wnt ligand secretion mediator gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1605334 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:25741868 12430477 WLS Wnt ligand secretion mediator gene DOID:1059 intellectual disability ISO RGD:1605334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12430477 WLS Wnt ligand secretion mediator gene DOID:630 genetic disease ISO RGD:1605334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430477 WLS Wnt ligand secretion mediator gene DOID:9001208 ZAKI SYNDROME ISO RGD:1605334 D RGD:7240710 20220223 OMIM 12430477 WLS Wnt ligand secretion mediator gene DOID:9001208 ZAKI SYNDROME ISO RGD:1605334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zaki syndrome PMID:25741868|PMID:34587386 12430477 WLS Wnt ligand secretion mediator gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12430493 RAB3IL1 RAB3A interacting protein like 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1354248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12430493 RAB3IL1 RAB3A interacting protein like 1 gene DOID:1059 intellectual disability ISO RGD:1354248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12430493 RAB3IL1 RAB3A interacting protein like 1 gene DOID:630 genetic disease ISO RGD:1354248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430536 NAA30 N-alpha-acetyltransferase 30, NatC catalytic subunit gene DOID:630 genetic disease ISO RGD:1346528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430545 CHADL chondroadherin like gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:2292054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 12430545 CHADL chondroadherin like gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:2292054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 12430545 CHADL chondroadherin like gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:2292054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:28492532 12430545 CHADL chondroadherin like gene DOID:630 genetic disease ISO RGD:2292054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430545 CHADL chondroadherin like gene DOID:9006041 Osteoarthritis, Hip ISO RGD:2292054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28319091|PMID:30374069 12430566 DEPDC4 DEP domain containing 4 gene DOID:630 genetic disease ISO RGD:1349120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430573 NKAIN2 sodium/potassium transporting ATPase interacting 2 gene DOID:630 genetic disease ISO RGD:1349938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430590 TNFSF18 TNF superfamily member 18 gene DOID:1540 parathyroid carcinoma ISO RGD:1312875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12430590 TNFSF18 TNF superfamily member 18 gene DOID:3755 antithrombin III deficiency ISO RGD:1312875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 12430590 TNFSF18 TNF superfamily member 18 gene DOID:630 genetic disease ISO RGD:1312875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430590 TNFSF18 TNF superfamily member 18 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1312875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 12430590 TNFSF18 TNF superfamily member 18 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1312875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 12430590 TNFSF18 TNF superfamily member 18 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12430599 NHSL1 NHS like 1 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1349811 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 12430599 NHSL1 NHS like 1 gene DOID:630 genetic disease ISO RGD:1349811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430631 LMBRD1 LMBR1 domain containing 1 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:733977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:19136951|PMID:21303734|PMID:23776111|PMID:24664876|PMID:25741868|PMID:26997947|PMID:28492532 12430631 LMBRD1 LMBR1 domain containing 1 gene DOID:0050717 methylmalonic aciduria and homocystinuria type cblF ISO RGD:733977 D RGD:7240710 20180130 OMIM 12430631 LMBRD1 LMBR1 domain containing 1 gene DOID:0050717 methylmalonic aciduria and homocystinuria type cblF ISO RGD:733977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF PMID:16199547|PMID:17576681|PMID:19136951|PMID:21303734|PMID:23776111|PMID:24664876|PMID:25047945|PMID:25741868|PMID:26997947|PMID:28492532|PMID:9536098 12430631 LMBRD1 LMBR1 domain containing 1 gene DOID:0090144 Donnai-Barrow syndrome ISO RGD:733977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Donnai-Barrow syndrome PMID:19136951|PMID:25741868|PMID:28492532 12430631 LMBRD1 LMBR1 domain containing 1 gene DOID:630 genetic disease ISO RGD:733977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:19136951|PMID:21303734|PMID:23776111|PMID:24664876|PMID:25741868|PMID:26997947|PMID:28492532 12430631 LMBRD1 LMBR1 domain containing 1 gene DOID:655 inherited metabolic disorder ISO RGD:733977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:19136951|PMID:21303734|PMID:23776111|PMID:24664876|PMID:25741868|PMID:26997947|PMID:28492532 12430651 MIR20A microRNA mir-20a gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1352718 D RGD:9068941 20200609 RGD PMID:26781875|REF_RGD_ID:26884343 12430651 MIR20A microRNA mir-20a gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1352718 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:30030064|REF_RGD_ID:25823148 12430651 MIR20A microRNA mir-20a gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:2325401 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:30030064|REF_RGD_ID:25823148 12430651 MIR20A microRNA mir-20a gene DOID:0110878 holoprosencephaly 5 ISO RGD:1352718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 12430651 MIR20A microRNA mir-20a gene DOID:10283 prostate cancer ISO RGD:1352718 D RGD:9068941 20200609 RGD PMID:27650539|REF_RGD_ID:25823156 12430651 MIR20A microRNA mir-20a gene DOID:11166 papillomavirus infectious disease ISO RGD:1352718 D RGD:9068941 20200609 RGD associated with oral squamous cell carcinoma PMID:26781875|REF_RGD_ID:26884343 12430651 MIR20A microRNA mir-20a gene DOID:1936 atherosclerosis ameliorates ISO RGD:1608350 D RGD:9068941 20230330 RGD PMID:35854140|REF_RGD_ID:242905195 12430651 MIR20A microRNA mir-20a gene DOID:1993 rectum cancer ISO RGD:1352718 D RGD:9068941 20200609 RGD PMID:30277504|REF_RGD_ID:25823152 12430651 MIR20A microRNA mir-20a gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1352718 D RGD:9068941 20200609 RGD PMID:29459010|REF_RGD_ID:25823149 12430651 MIR20A microRNA mir-20a gene DOID:3717 gastric adenocarcinoma ISO RGD:1352718 D RGD:9068941 20200609 RGD miRNA:increased expression:stomach, serum,extracellular exosome PMID:27756776|REF_RGD_ID:25823155 12430651 MIR20A microRNA mir-20a gene DOID:3907 lung squamous cell carcinoma ISO RGD:1352718 D RGD:9068941 20200609 RGD PMID:26560875|REF_RGD_ID:11572141 12430651 MIR20A microRNA mir-20a gene DOID:3910 lung adenocarcinoma ISO RGD:1352718 D RGD:9068941 20200609 RGD PMID:26560875|REF_RGD_ID:11572141 12430651 MIR20A microRNA mir-20a gene DOID:552 pneumonia ISO RGD:1352718 D RGD:9068941 20200609 RGD PMID:29115456|REF_RGD_ID:25823151 12430651 MIR20A microRNA mir-20a gene DOID:6000 congestive heart failure ISO RGD:1352718 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12430651 MIR20A microRNA mir-20a gene DOID:684 hepatocellular carcinoma ISO RGD:1352718 D RGD:9068941 20200609 RGD associated with Human Viral Hepatitis PMID:30623908|REF_RGD_ID:25823145 12430651 MIR20A microRNA mir-20a gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352718 D RGD:9068941 20200609 RGD associated with colorectal cancer PMID:27286257|REF_RGD_ID:25823157 12430651 MIR20A microRNA mir-20a gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1352718 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:32720422 12430651 MIR20A microRNA mir-20a gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352718 D RGD:9068941 20200609 RGD miRNA:decreased expression:serum PMID:30589041|REF_RGD_ID:25823150 12430651 MIR20A microRNA mir-20a gene DOID:9256 colorectal cancer ISO RGD:1352718 D RGD:9068941 20220721 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12430719 LIF LIF interleukin 6 family cytokine gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 12430719 LIF LIF interleukin 6 family cytokine gene DOID:11612 polycystic ovary syndrome ISO RGD:736774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12430719 LIF LIF interleukin 6 family cytokine gene DOID:219 colon cancer ameliorates ISO RGD:736774 D RGD:9068941 20220217 RGD human cells in mouse model PMID:29899555|REF_RGD_ID:151356919 12430719 LIF LIF interleukin 6 family cytokine gene DOID:2316 brain ischemia ISO RGD:620865 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:20221422|REF_RGD_ID:2326053 12430719 LIF LIF interleukin 6 family cytokine gene DOID:6000 congestive heart failure ISO RGD:620865 D RGD:9068941 20200609 RGD PMID:20051627|REF_RGD_ID:2326058 12430719 LIF LIF interleukin 6 family cytokine gene DOID:630 genetic disease ISO RGD:736774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430719 LIF LIF interleukin 6 family cytokine gene DOID:9001981 Weight Loss ISO RGD:736774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291613 12430719 LIF LIF interleukin 6 family cytokine gene DOID:9002739 Female Urogenital Diseases ISO RGD:736774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 12430719 LIF LIF interleukin 6 family cytokine gene DOID:9003281 Spontaneous Abortions ISO RGD:736774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12430719 LIF LIF interleukin 6 family cytokine gene DOID:9003936 Cardiomegaly ISO RGD:736774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15226216 12430719 LIF LIF interleukin 6 family cytokine gene DOID:9004994 Embryo Loss ISO RGD:736774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23409146 12430719 LIF LIF interleukin 6 family cytokine gene DOID:9007096 Stroke ISO RGD:620865 D RGD:9068941 20200609 RGD PMID:18042242|REF_RGD_ID:2326063 12430719 LIF LIF interleukin 6 family cytokine gene DOID:9007096 Stroke ISO RGD:736774 D RGD:9068941 20200609 RGD PMID:18042242|REF_RGD_ID:2326063 12430719 LIF LIF interleukin 6 family cytokine gene DOID:9007456 Female Infertility ISO RGD:736774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23407384 12430719 LIF LIF interleukin 6 family cytokine gene DOID:9256 colorectal cancer disease_progression ISO RGD:736774 D RGD:9068941 20220217 RGD protein:increased expression:colon (human) PMID:29899555|REF_RGD_ID:151356919 12430740 THOC5 THO complex subunit 5 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1349222 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 12430740 THOC5 THO complex subunit 5 gene DOID:2355 anemia ISO RGD:1312750 D RGD:9068941 20200609 RGD PMID:20051105|REF_RGD_ID:2317224 12430740 THOC5 THO complex subunit 5 gene DOID:3459 breast carcinoma ISO RGD:1349222 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:c.1139C>A, c.1495G>A (human) PMID:16959974|REF_RGD_ID:2317225 12430740 THOC5 THO complex subunit 5 gene DOID:615 leukopenia ISO RGD:1312750 D RGD:9068941 20200609 RGD PMID:20051105|REF_RGD_ID:2317224 12430740 THOC5 THO complex subunit 5 gene DOID:630 genetic disease ISO RGD:1349222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430740 THOC5 THO complex subunit 5 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1349222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 12430774 RMDN1 regulator of microtubule dynamics 1 gene DOID:630 genetic disease ISO RGD:1606009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430792 UNC5C unc-5 netrin receptor C gene DOID:4450 renal cell carcinoma ISO RGD:1347353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21600761 12430792 UNC5C unc-5 netrin receptor C gene DOID:630 genetic disease ISO RGD:1347353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430814 ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1602704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 12430814 ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1602704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 12430814 ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1602704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 12430814 ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 gene DOID:1148 polydactyly ISO RGD:1602704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 12430814 ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1602704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 12430814 ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 gene DOID:630 genetic disease ISO RGD:1602704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12430814 ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12430834 SCO2 synthesis of cytochrome C oxidase 2 gene DOID:0050700 cardiomyopathy ISO RGD:1347479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16326995 12430834 SCO2 synthesis of cytochrome C oxidase 2 gene DOID:0050713 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency ISO RGD:1347479 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency PMID:10545952|PMID:11673586|PMID:12020273|PMID:12529715|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18924171|PMID:19879173|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:26467025|PMID:27290639|PMID:28492532|PMID:28798025|PMID:29193756|PMID:29351582|PMID:31589614|PMID:31623504|PMID:32668698|PMID:33098801|PMID:34426522|PMID:34691145 12430834 SCO2 synthesis of cytochrome C oxidase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1347479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 12430834 SCO2 synthesis of cytochrome C oxidase 2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1347479 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 12430834 SCO2 synthesis of cytochrome C oxidase 2 gene DOID:0080119 mitochondrial DNA depletion syndrome 1 ISO RGD:1347479 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) PMID:10852545|PMID:12177387|PMID:12529715|PMID:14720311|PMID:15781193|PMID:16198108|PMID:16199547|PMID:17437622|PMID:17576681|PMID:19056268|PMID:19748572|PMID:19853446|PMID:2005900|PMID:21933806|PMID:22618301|PMID:23590577|PMID:23643385|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31885962|PMID:9536098|PMID:9924029 12430834 SCO2 synthesis of cytochrome C oxidase 2 gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1347479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency PMID:10852545|PMID:12529715|PMID:15781193|PMID:16198108|PMID:16199547|PMID:17576681|PMID:19056268|PMID:19853446|PMID:2005900|PMID:23643385|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098|PMID:9924029 12430834 SCO2 synthesis of cytochrome C oxidase 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1347479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 12430834 SCO2 synthesis of cytochrome C oxidase 2 gene DOID:0080357 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 ISO RGD:1347479 D RGD:7240710 20180130 OMIM 12430834 SCO2 synthesis of cytochrome C oxidase 2 gene DOID:0080357 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 ISO RGD:1347479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 PMID:10545952|PMID:10749987|PMID:11673586|PMID:12020273|PMID:12529715|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18804471|PMID:18924171|PMID:19879173|PMID:20159436|PMID:23345593|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:25959673|PMID:26467025|PMID:27290639|PMID:28492532|PMID:28518168|PMID:28798025|PMID:29193756|PMID:29351582|PMID:30593977|PMID:31589614|PMID:31623504|PMID:32461654|PMID:32668698|PMID:33098801|PMID:33171185|PMID:34426522|PMID:34691145 12430834 SCO2 synthesis of cytochrome C oxidase 2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1347479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 12430834 SCO2 synthesis of cytochrome C oxidase 2 gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1347479 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 12430834 SCO2 synthesis of cytochrome C oxidase 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1347479 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 12430834 SCO2 synthesis of cytochrome C oxidase 2 gene DOID:1059 intellectual disability ISO RGD:1347479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12430834 SCO2 synthesis of cytochrome C oxidase 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1347479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11027508|PMID:14970747 12430834 SCO2 synthesis of cytochrome C oxidase 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1347479 D RGD:9068941 20200609 RGD PMID:10749987|REF_RGD_ID:1580020 12430834 SCO2 synthesis of cytochrome C oxidase 2 gene DOID:12377 spinal muscular atrophy ISO RGD:1347479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy PMID:2005900|PMID:25741868|PMID:26467025|PMID:28492532 12430834 SCO2 synthesis of cytochrome C oxidase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1347479 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive PMID:20159436|PMID:25741868|PMID:28492532 12430834 SCO2 synthesis of cytochrome C oxidase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1347479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:10545952|PMID:15210538|PMID:19879173|PMID:20159436|PMID:25741868|PMID:28492532 12430834 SCO2 synthesis of cytochrome C oxidase 2 gene DOID:1826 epilepsy ISO RGD:1347479 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizures PMID:10545952|PMID:11673586|PMID:12020273|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18924171|PMID:19879173|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:27290639|PMID:28492532|PMID:28798025|PMID:29193756|PMID:29351582|PMID:31589614|PMID:31623504|PMID:32668698|PMID:33098801|PMID:34426522|PMID:34691145 12430834 SCO2 synthesis of cytochrome C oxidase 2 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1347479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:12529715|PMID:23643385|PMID:25741868|PMID:25959673|PMID:26467025|PMID:28492532|PMID:28518168|PMID:32461654 12430834 SCO2 synthesis of cytochrome C oxidase 2 gene DOID:630 genetic disease ISO RGD:1347479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15781193|PMID:16199547|PMID:17576681|PMID:19056268|PMID:22618301|PMID:23643385|PMID:25741868|PMID:25959673|PMID:28492532|PMID:28518168|PMID:32461654|PMID:9536098|PMID:9924029 12430834 SCO2 synthesis of cytochrome C oxidase 2 gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1347479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16326995|PMID:23345593 12430834 SCO2 synthesis of cytochrome C oxidase 2 gene DOID:9001263 Mitochondrial DNA Depletion Syndrome, MNGIE Type ISO RGD:1347479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MNGIE syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:10852545|PMID:12529715|PMID:15781193|PMID:16198108|PMID:16199547|PMID:17576681|PMID:19056268|PMID:19853446|PMID:2005900|PMID:23643385|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098|PMID:9924029 12430834 SCO2 synthesis of cytochrome C oxidase 2 gene DOID:9001488 Human Influenza ISO RGD:1347479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 12430834 SCO2 synthesis of cytochrome C oxidase 2 gene DOID:9004853 Myopia 6 ISO RGD:1347479 D RGD:7240710 20180130 OMIM 12430834 SCO2 synthesis of cytochrome C oxidase 2 gene DOID:9004853 Myopia 6 ISO RGD:1347479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopia 6 | ClinVar Annotator: match by term: Myopia, susceptibility to PMID:10545952|PMID:10749987|PMID:11673586|PMID:12020273|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18924171|PMID:19879173|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:25959673|PMID:27290639|PMID:28492532|PMID:28518168|PMID:28798025|PMID:29193756|PMID:29351582|PMID:31589614|PMID:31623504|PMID:32461654|PMID:32668698|PMID:33098801|PMID:33171185|PMID:34426522|PMID:34691145 12430834 SCO2 synthesis of cytochrome C oxidase 2 gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:1347479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23345593 12430834 SCO2 synthesis of cytochrome C oxidase 2 gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:1347479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:12529715|PMID:23643385|PMID:25741868|PMID:26467025|PMID:28492532 12430845 KRT86 keratin 86 gene DOID:0050472 monilethrix ISO RGD:1348087 D RGD:7240710 20220112 OMIM 12430845 KRT86 keratin 86 gene DOID:0050472 monilethrix ISO RGD:1348087 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nodose hair PMID:10469314|PMID:10594761|PMID:10878478|PMID:15050877|PMID:15744029|PMID:19400537|PMID:25326635|PMID:25741868|PMID:28492532|PMID:7556444|PMID:9241275|PMID:9402962|PMID:9457912|PMID:9665406|PMID:9804356 12430845 KRT86 keratin 86 gene DOID:421 hair disease susceptibility ISO RGD:1348087 D RGD:9068941 20220114 RGD protein:mutations: ; E410K, E410D; monilethrix, OMIM:158000 PMID:9241275|REF_RGD_ID:1600198 12430845 KRT86 keratin 86 gene DOID:630 genetic disease ISO RGD:1348087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430858 GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:1059 intellectual disability ISO RGD:732651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28492532 12430858 GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:1825 childhood absence epilepsy ISO RGD:732651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood absence epilepsy PMID:28492532 12430858 GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:1826 epilepsy ISO RGD:732651 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12430858 GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:732651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:16718694|PMID:22190369|PMID:24811917|PMID:28492532 12430858 GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:3525 middle cerebral artery infarction ISO RGD:732651 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 12430858 GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:5419 schizophrenia ISO RGD:732651 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18923069 12430858 GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:630 genetic disease ISO RGD:732651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430858 GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:9005158 Cushing Syndrome ISO RGD:61861 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1519T>C, abdominal obesity and hypercortisolism PMID:12080446|REF_RGD_ID:1626491 12430858 GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:9970 obesity ISO RGD:61861 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1519T>C, abdominal obesity and hypercortisolism PMID:12080446|REF_RGD_ID:1626491 12430871 IL4R interleukin 4 receptor gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q551R (human) PMID:11164908|REF_RGD_ID:1358313 12430871 IL4R interleukin 4 receptor gene DOID:0060500 drug allergy ISO RGD:10798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 12430871 IL4R interleukin 4 receptor gene DOID:0080600 COVID-19 ISO RGD:735615 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12430871 IL4R interleukin 4 receptor gene DOID:10533 viral pneumonia ISO RGD:735615 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12430871 IL4R interleukin 4 receptor gene DOID:11204 allergic conjunctivitis susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD associated with rhinitis; DNA:SNP: : rs2107356 (human) PMID:20002627|REF_RGD_ID:4890389 12430871 IL4R interleukin 4 receptor gene DOID:11963 esophagitis susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung;DNA:SNP: :rs1801275(human) PMID:20811626|REF_RGD_ID:5131286 12430871 IL4R interleukin 4 receptor gene DOID:12053 cryptococcosis ISO RGD:10798 D RGD:9068941 20200609 RGD PMID:18954266|REF_RGD_ID:4890005 12430871 IL4R interleukin 4 receptor gene DOID:1793 pancreatic cancer disease_progression ISO RGD:735615 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:18758789|REF_RGD_ID:2317669 12430871 IL4R interleukin 4 receptor gene DOID:2377 multiple sclerosis ISO RGD:735615 D RGD:9068941 20200609 RGD PMID:14712310|REF_RGD_ID:4890395 12430871 IL4R interleukin 4 receptor gene DOID:2841 asthma ISO RGD:10798 D RGD:9068941 20200609 RGD PMID:20605987|PMID:20953944|REF_RGD_ID:5128514|REF_RGD_ID:5128553 12430871 IL4R interleukin 4 receptor gene DOID:2841 asthma ISO RGD:10798 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.Q576R (mouse) PMID:19770271|REF_RGD_ID:4890003 12430871 IL4R interleukin 4 receptor gene DOID:2841 asthma ISO RGD:10798 D RGD:9068941 20220825 MouseDO OMIM:600807 12430871 IL4R interleukin 4 receptor gene DOID:2841 asthma ISO RGD:735615 D RGD:9068941 20200609 RGD PMID:11398072|PMID:16917945|REF_RGD_ID:4890352|REF_RGD_ID:4890406 12430871 IL4R interleukin 4 receptor gene DOID:2841 asthma ISO RGD:735615 D RGD:9068941 20200609 RGD protein:increased secretion:plasma PMID:15479272|REF_RGD_ID:4890351 12430871 IL4R interleukin 4 receptor gene DOID:2841 asthma disease_progression ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNPs:cds:p.E375A, Q551R (human) PMID:17170387|REF_RGD_ID:4890349 12430871 IL4R interleukin 4 receptor gene DOID:2841 asthma severity ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I50V (human) PMID:18425216|REF_RGD_ID:4890346 12430871 IL4R interleukin 4 receptor gene DOID:2841 asthma susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:17823973|REF_RGD_ID:4890347 12430871 IL4R interleukin 4 receptor gene DOID:2841 asthma susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNPs:cds:p. I75V, Q576R (human) PMID:12133990|REF_RGD_ID:4890404 12430871 IL4R interleukin 4 receptor gene DOID:2841 asthma susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism::-1902G/A (human) PMID:20868478|REF_RGD_ID:4890387 12430871 IL4R interleukin 4 receptor gene DOID:2841 asthma susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p. S478P (human) PMID:11709756|REF_RGD_ID:4890024 12430871 IL4R interleukin 4 receptor gene DOID:2841 asthma susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.Q551R (human) PMID:17586032|REF_RGD_ID:4890348 12430871 IL4R interleukin 4 receptor gene DOID:2841 asthma susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.Q576R (human) PMID:12940513|REF_RGD_ID:4890402 12430871 IL4R interleukin 4 receptor gene DOID:2957 pulmonary tuberculosis ISO RGD:735615 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21251883|REF_RGD_ID:5128510 12430871 IL4R interleukin 4 receptor gene DOID:3082 interstitial lung disease ISO RGD:735615 D RGD:9068941 20200609 RGD Idiopathic Interstitial Pneumonias PMID:15161635|REF_RGD_ID:4890021 12430871 IL4R interleukin 4 receptor gene DOID:3261 hyper IgE recurrent infection syndrome 1 no_association ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.Q576R(human) PMID:9537881|REF_RGD_ID:11530003 12430871 IL4R interleukin 4 receptor gene DOID:3310 atopic dermatitis susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.Q576R(human) PMID:9392697|REF_RGD_ID:11530001 12430871 IL4R interleukin 4 receptor gene DOID:350 mastocytosis ISO RGD:10798 D RGD:9068941 20200609 RGD PMID:23149659|REF_RGD_ID:7829822 12430871 IL4R interleukin 4 receptor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:735615 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:17942922|REF_RGD_ID:2317264 12430871 IL4R interleukin 4 receptor gene DOID:4450 renal cell carcinoma ISO RGD:735615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22317767|PMID:30472377 12430871 IL4R interleukin 4 receptor gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I50V (human) PMID:12171893|REF_RGD_ID:7207070 12430871 IL4R interleukin 4 receptor gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I50V (human) PMID:22317767|REF_RGD_ID:7207066 12430871 IL4R interleukin 4 receptor gene DOID:4483 rhinitis ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.1432T>C (human) PMID:15564773|REF_RGD_ID:4890394 12430871 IL4R interleukin 4 receptor gene DOID:4947 cholangiocarcinoma ISO RGD:735615 D RGD:9068941 20200609 RGD mRNA:increased expression:bile duct PMID:18798553|REF_RGD_ID:2317263 12430871 IL4R interleukin 4 receptor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735615 D RGD:7240710 20230517 OMIM 12430871 IL4R interleukin 4 receptor gene DOID:552 pneumonia ISO RGD:735615 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12430871 IL4R interleukin 4 receptor gene DOID:5844 myocardial infarction ISO RGD:2899 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:10807530|REF_RGD_ID:4889985 12430871 IL4R interleukin 4 receptor gene DOID:630 genetic disease ISO RGD:735615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430871 IL4R interleukin 4 receptor gene DOID:635 acquired immunodeficiency syndrome ISO RGD:735615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, slow progression to PMID:15712015|PMID:16189667|PMID:2278997|PMID:2307934|PMID:9620765 12430871 IL4R interleukin 4 receptor gene DOID:6543 acne ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.Q551R (human) PMID:22705603|REF_RGD_ID:7829779 12430871 IL4R interleukin 4 receptor gene DOID:7148 rheumatoid arthritis severity ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNP: :rs1805010 (human) PMID:24782180|REF_RGD_ID:10402783 12430871 IL4R interleukin 4 receptor gene DOID:8398 osteoarthritis ISO RGD:735615 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16647277|REF_RGD_ID:10402785 12430871 IL4R interleukin 4 receptor gene DOID:850 lung disease ISO RGD:10798 D RGD:9068941 20200609 RGD associated with respiratory syncytial virus infection PMID:20861354|REF_RGD_ID:4889995 12430871 IL4R interleukin 4 receptor gene DOID:9000011 Gallbladder Neoplasms ISO RGD:735615 D RGD:9068941 20200609 RGD mRNA:increased expression:gallbladder PMID:18798553|REF_RGD_ID:2317263 12430871 IL4R interleukin 4 receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2899 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:20623539|REF_RGD_ID:5128562 12430871 IL4R interleukin 4 receptor gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:735615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30472377 12430871 IL4R interleukin 4 receptor gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10798 D RGD:9068941 20200609 RGD PMID:16890766|REF_RGD_ID:4890011 12430871 IL4R interleukin 4 receptor gene DOID:9001733 Tinnitus ISO RGD:735615 D RGD:9068941 20200609 RGD associated with Hearing Loss, Sudden;DNA:SNP: :p.Q576R (rs 180275) (human) PMID:16280132|REF_RGD_ID:7829784 12430871 IL4R interleukin 4 receptor gene DOID:9002669 Hypoxia ISO RGD:10798 D RGD:9068941 20200609 RGD PMID:19380795|REF_RGD_ID:4890390 12430871 IL4R interleukin 4 receptor gene DOID:9002850 Immediate Hypersensitivity ISO RGD:10798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 12430871 IL4R interleukin 4 receptor gene DOID:9003817 Sudden Hearing Loss ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNP: :p.Q576R (rs 180275) (human) PMID:16280132|REF_RGD_ID:7829784 12430871 IL4R interleukin 4 receptor gene DOID:9004501 Meningeal Tuberculosis ISO RGD:735615 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21251883|REF_RGD_ID:5128510 12430871 IL4R interleukin 4 receptor gene DOID:9005040 Hand Osteoarthritis no_association ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exons:multiple PMID:20219689|REF_RGD_ID:10402786 12430871 IL4R interleukin 4 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10798 D RGD:9068941 20200609 RGD PMID:12165974|REF_RGD_ID:4889983 12430871 IL4R interleukin 4 receptor gene DOID:9006041 Osteoarthritis, Hip no_association ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.S411L, p.S727A (rs1805013, rs1805016) (human) PMID:19036616|REF_RGD_ID:10402784 12430871 IL4R interleukin 4 receptor gene DOID:9006041 Osteoarthritis, Hip susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNPs:multiple PMID:14745651|REF_RGD_ID:10402782 12430871 IL4R interleukin 4 receptor gene DOID:9006928 Viral Bronchiolitis ISO RGD:10798 D RGD:9068941 20200609 RGD PMID:20404812|REF_RGD_ID:4889996 12430871 IL4R interleukin 4 receptor gene DOID:9006928 Viral Bronchiolitis ISO RGD:735615 D RGD:9068941 20200609 RGD associated with respiratory syncystial virus infection; DNA:polymorphism:cds:p. Q551R (human) PMID:12508140|REF_RGD_ID:4890022 12430871 IL4R interleukin 4 receptor gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1805011,rs2057768 (human) PMID:17703412|REF_RGD_ID:4889847 12430871 IL4R interleukin 4 receptor gene DOID:9007096 Stroke disease_progression ISO RGD:735615 D RGD:9068941 20200609 RGD PMID:24386991|REF_RGD_ID:11530005 12430871 IL4R interleukin 4 receptor gene DOID:9007096 Stroke susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:polymorphism:cds:p.S503P(rs1805015)(human) PMID:14615367|REF_RGD_ID:11529997 12430871 IL4R interleukin 4 receptor gene DOID:9007356 Eczema ISO RGD:10798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19759553 12430871 IL4R interleukin 4 receptor gene DOID:9007356 Eczema susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNP: : rs2057768 (human) PMID:20002627|REF_RGD_ID:4890389 12430871 IL4R interleukin 4 receptor gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:2899 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:19395316|REF_RGD_ID:4889981 12430871 IL4R interleukin 4 receptor gene DOID:9008727 Ige Responsiveness, Atopic ISO RGD:735615 D RGD:7240710 20230517 OMIM 12430871 IL4R interleukin 4 receptor gene DOID:9008727 Ige Responsiveness, Atopic ISO RGD:735615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atopy, resistance to | ClinVar Annotator: match by term: Atopy, susceptibility to | ClinVar Annotator: match by term: IgE responsiveness, atopic PMID:10233717|PMID:10905893|PMID:11709756|PMID:15173254|PMID:15712015|PMID:16189667|PMID:2278997|PMID:2307934|PMID:25741868|PMID:28492532|PMID:9392697|PMID:9515586|PMID:9537881|PMID:9620765 12430871 IL4R interleukin 4 receptor gene DOID:9008821 Otitis Media with Effusion treatment ISO RGD:10798 D RGD:9068941 20200609 RGD PMID:12297806|REF_RGD_ID:11530017 12430871 IL4R interleukin 4 receptor gene DOID:9008821 Otitis Media with Effusion treatment ISO RGD:2899 D RGD:9068941 20200609 RGD PMID:12297806|REF_RGD_ID:11530017 12430871 IL4R interleukin 4 receptor gene DOID:9119 acute myeloid leukemia ISO RGD:735615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11918534 12430871 IL4R interleukin 4 receptor gene DOID:9538 multiple myeloma susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNP: :-228120T>C(rs2107356)(human) PMID:17315188|REF_RGD_ID:11040938 12430871 IL4R interleukin 4 receptor gene DOID:9733 renal tuberculosis ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I50V (human) PMID:19548368|REF_RGD_ID:7207069 12430871 IL4R interleukin 4 receptor gene DOID:9733 renal tuberculosis ISO RGD:735615 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21251883|REF_RGD_ID:5128510 12430892 GPR179 G protein-coupled receptor 179 gene DOID:0050534 congenital stationary night blindness ISO RGD:1601901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive | ClinVar Annotator: match by term: Congenital stationary night blindness PMID:22325361|PMID:22325362|PMID:24033266|PMID:25741868|PMID:28041643|PMID:28492532 12430892 GPR179 G protein-coupled receptor 179 gene DOID:0110869 congenital stationary night blindness 1E ISO RGD:1601901 D RGD:7240710 20180130 OMIM 12430892 GPR179 G protein-coupled receptor 179 gene DOID:0110869 congenital stationary night blindness 1E ISO RGD:1601901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1E PMID:22325361|PMID:22325362|PMID:23714322|PMID:24033266|PMID:24222301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:30718709 12430892 GPR179 G protein-coupled receptor 179 gene DOID:10584 retinitis pigmentosa ISO RGD:1601901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532|PMID:30718709 12430892 GPR179 G protein-coupled receptor 179 gene DOID:630 genetic disease ISO RGD:1601901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12430892 GPR179 G protein-coupled receptor 179 gene DOID:8501 fundus dystrophy ISO RGD:1601901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:22325361|PMID:22325362|PMID:24033266|PMID:25741868|PMID:28041643|PMID:28492532 12430892 GPR179 G protein-coupled receptor 179 gene DOID:9000386 Polyomavirus Infections ISO RGD:1601901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25463609 12430908 RBM6 RNA binding motif protein 6 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1342651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 12430908 RBM6 RNA binding motif protein 6 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1342651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 12430908 RBM6 RNA binding motif protein 6 gene DOID:630 genetic disease ISO RGD:1342651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430908 RBM6 RNA binding motif protein 6 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1342651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12430908 RBM6 RNA binding motif protein 6 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1342651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12430945 TMEM169 transmembrane protein 169 gene DOID:630 genetic disease ISO RGD:1602990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430945 TMEM169 transmembrane protein 169 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12430958 PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 gene DOID:5419 schizophrenia ISO RGD:1603638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 12430958 PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 gene DOID:630 genetic disease ISO RGD:1603638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12430958 PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1603638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334668 12430977 SIX5 SIX homeobox 5 gene DOID:0111424 branchiootorenal syndrome 2 ISO RGD:1312832 D RGD:7240710 20191106 OMIM 12430977 SIX5 SIX homeobox 5 gene DOID:0111424 branchiootorenal syndrome 2 ISO RGD:1312832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Branchiootorenal syndrome 2 PMID:17357085|PMID:21280147|PMID:24429398|PMID:25741868|PMID:26467025|PMID:27657687|PMID:28492532 12430977 SIX5 SIX homeobox 5 gene DOID:14702 branchiootorenal syndrome ISO RGD:1312832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12430977 SIX5 SIX homeobox 5 gene DOID:630 genetic disease ISO RGD:1312832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12430994 KANK1 KN motif and ankyrin repeat domains 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1317065 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 12430994 KANK1 KN motif and ankyrin repeat domains 1 gene DOID:0080545 hyper IgE syndrome ISO RGD:1317065 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive PMID:28492532 12430994 KANK1 KN motif and ankyrin repeat domains 1 gene DOID:0080594 hyper IgE recurrent infection syndrome 2 ISO RGD:1317065 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE PMID:28492532 12430994 KANK1 KN motif and ankyrin repeat domains 1 gene DOID:13580 cholestasis ISO RGD:1317065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 12430994 KANK1 KN motif and ankyrin repeat domains 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1317065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532 12430994 KANK1 KN motif and ankyrin repeat domains 1 gene DOID:4450 renal cell carcinoma ISO RGD:1317065 D RGD:9068941 20200609 RGD DNA, mRNA, protein:hypermethylation, decreased expression:kidney PMID:12133830|REF_RGD_ID:2315654 12430994 KANK1 KN motif and ankyrin repeat domains 1 gene DOID:5419 schizophrenia ISO RGD:1317065 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 12430994 KANK1 KN motif and ankyrin repeat domains 1 gene DOID:630 genetic disease ISO RGD:1317065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12430994 KANK1 KN motif and ankyrin repeat domains 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12430994 KANK1 KN motif and ankyrin repeat domains 1 gene DOID:9003517 Spastic Quadriplegic Cerebral Palsy 2 ISO RGD:1317065 D RGD:7240710 20180130 OMIM 12430994 KANK1 KN motif and ankyrin repeat domains 1 gene DOID:9003517 Spastic Quadriplegic Cerebral Palsy 2 ISO RGD:1317065 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 2 | ClinVar Annotator: match by term: KANK1- Related Disorder PMID:16301218|PMID:25741868|PMID:28492532 12430994 KANK1 KN motif and ankyrin repeat domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12431039 RABGAP1L RAB GTPase activating protein 1 like gene DOID:1540 parathyroid carcinoma ISO RGD:1347519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12431039 RABGAP1L RAB GTPase activating protein 1 like gene DOID:3755 antithrombin III deficiency ISO RGD:1347519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 12431039 RABGAP1L RAB GTPase activating protein 1 like gene DOID:630 genetic disease ISO RGD:1347519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431039 RABGAP1L RAB GTPase activating protein 1 like gene DOID:869 cholesteatoma ISO RGD:1347519 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cholesteatoma 12431039 RABGAP1L RAB GTPase activating protein 1 like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12431039 RABGAP1L RAB GTPase activating protein 1 like gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1347519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 12431039 RABGAP1L RAB GTPase activating protein 1 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12431084 DISP2 dispatched RND transporter family member 2 gene DOID:2717 Bloom syndrome ISO RGD:1319977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12431084 DISP2 dispatched RND transporter family member 2 gene DOID:630 genetic disease ISO RGD:1319977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431084 DISP2 dispatched RND transporter family member 2 gene DOID:9256 colorectal cancer ISO RGD:1319977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:0090103 Huntington's disease-like 1 ISO RGD:737586 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:10763 hypertension ISO RGD:3238 D RGD:9068941 20200609 RGD PMID:18562099|REF_RGD_ID:2304105 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:10763 hypertension ISO RGD:3238 D RGD:9068941 20200609 RGD mRNA:decreased expression:paraventricular hypothalamic nucleus PMID:16157794|REF_RGD_ID:2304174 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:10763 hypertension ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18562099|PMID:9334988 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:10808 gastric ulcer ISO RGD:3238 D RGD:9068941 20200609 RGD PMID:11764003|REF_RGD_ID:2304192 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:11247 disseminated intravascular coagulation ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15547535 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:12849 autistic disorder ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15288368|PMID:18775368 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:2030 anxiety disorder ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19228979 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:305 carcinoma ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8647655 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:326 ischemia ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10440088 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:737586 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:47 prostate disease ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17492653 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:630 genetic disease ISO RGD:737586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4988877|PMID:6407273 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:9000053 Headache ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7080326 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:9000197 Edema ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:5067144|PMID:5538905 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:9000641 Pain ISO RGD:3238 D RGD:9068941 20200609 RGD PMID:17664006|REF_RGD_ID:2304129 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:9000641 Pain ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17420069|PMID:6094376 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:9000892 Fetal Distress ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2862618 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:9001661 Taste Disorders ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7080326 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:9001916 Fetal Death ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:5067144 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:9001981 Weight Loss ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18562099 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:9002362 Hyperkinesis ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18092152 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:9002928 Colonic Neoplasms ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8647655 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:9004009 Reperfusion Injury ISO RGD:3238 D RGD:9068941 20200609 RGD PMID:18403049|REF_RGD_ID:2304111 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:9004657 Weight Gain ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18562099 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15089975|PMID:8647655 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:9005274 Polyuria ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20649851 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:9005289 Water Intoxication ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:292422|PMID:3923190|PMID:4988877|PMID:5067144|PMID:5493616|PMID:5528113|PMID:7360068|PMID:803783 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:9005372 Inflammation ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18940936 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:9006024 Hypotension ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11171655 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:9006462 Coma ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19397503|PMID:292422|PMID:5067144 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:9006635 Hyponatremia ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19397503|PMID:3923190|PMID:6407273 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:9006743 Spasm ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2444298|PMID:3567346|PMID:5784655|PMID:8680739 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:9007730 Burns ISO RGD:3238 D RGD:9068941 20200609 RGD PMID:17826914|REF_RGD_ID:2304127 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:9007763 Flushing ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7080326 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3238 D RGD:9068941 20200609 RGD PMID:19234577|REF_RGD_ID:2304087 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:9007993 Dehydration ISO RGD:3238 D RGD:9068941 20200609 RGD mRNA:increased expression:paraventricular hypothalamic nucleus, supraoptic nucleus PMID:17393298|REF_RGD_ID:2304139 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:9008644 Dysmenorrhea ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10440088 12431096 OXT oxytocin/neurophysin I prepropeptide gene DOID:9008941 Muscle Hypertonia ISO RGD:737586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2862618 12431107 NME3 NME/NM23 nucleoside diphosphate kinase 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:733554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 12431107 NME3 NME/NM23 nucleoside diphosphate kinase 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:733554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12431107 NME3 NME/NM23 nucleoside diphosphate kinase 3 gene DOID:1826 epilepsy ISO RGD:733554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12431107 NME3 NME/NM23 nucleoside diphosphate kinase 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:733554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12431107 NME3 NME/NM23 nucleoside diphosphate kinase 3 gene DOID:630 genetic disease ISO RGD:733554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12431114 MIR99A-2 microRNA mir-99a-2 gene DOID:10652 Alzheimer's disease ISO RGD:1345382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25992776 12431114 MIR99A-2 microRNA mir-99a-2 gene DOID:11054 urinary bladder cancer ISO RGD:1345382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 12431114 MIR99A-2 microRNA mir-99a-2 gene DOID:2043 hepatitis B ISO RGD:1345382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12431114 MIR99A-2 microRNA mir-99a-2 gene DOID:2671 transitional cell carcinoma ISO RGD:1345382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 12431114 MIR99A-2 microRNA mir-99a-2 gene DOID:2921 glomerulonephritis ISO RGD:1345382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25758243 12431114 MIR99A-2 microRNA mir-99a-2 gene DOID:4989 pancreatitis ISO RGD:1345382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12431114 MIR99A-2 microRNA mir-99a-2 gene DOID:5419 schizophrenia ISO RGD:1345382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12431114 MIR99A-2 microRNA mir-99a-2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1345382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24447120 12431114 MIR99A-2 microRNA mir-99a-2 gene DOID:9000918 Disease Progression ISO RGD:1345382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 12431114 MIR99A-2 microRNA mir-99a-2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 12431114 MIR99A-2 microRNA mir-99a-2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12431114 MIR99A-2 microRNA mir-99a-2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12431114 MIR99A-2 microRNA mir-99a-2 gene DOID:9007661 Dwarfism ISO RGD:1345382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12431117 MIR494 microRNA mir-494 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1603770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 12431117 MIR494 microRNA mir-494 gene DOID:10534 stomach cancer severity ISO RGD:1603770 D RGD:9068941 20230225 RGD PMID:33247701|REF_RGD_ID:156430324 12431117 MIR494 microRNA mir-494 gene DOID:10892 hypospadias ISO RGD:1608177 D RGD:9068941 20230302 RGD RNA:increased expression:urethra PMID:32413360|REF_RGD_ID:156431051 12431117 MIR494 microRNA mir-494 gene DOID:11054 urinary bladder cancer ameliorates ISO RGD:1603770 D RGD:9068941 20230302 RGD PMID:36098468|REF_RGD_ID:156431053 12431117 MIR494 microRNA mir-494 gene DOID:14115 toxic shock syndrome severity ISO RGD:1603770 D RGD:9068941 20230223 RGD PMID:30783439|REF_RGD_ID:150527846 12431117 MIR494 microRNA mir-494 gene DOID:1612 breast cancer ISO RGD:1603770 D RGD:9068941 20230225 RGD RNA:decreased expression:breast PMID:28055013|REF_RGD_ID:156430322 12431117 MIR494 microRNA mir-494 gene DOID:1826 epilepsy ameliorates ISO RGD:2325523 D RGD:9068941 20230216 RGD PMID:32308116|REF_RGD_ID:156420143 12431117 MIR494 microRNA mir-494 gene DOID:3021 acute kidney failure ISO RGD:1603770 D RGD:9068941 20230209 RGD RNA:increased expression:urine PMID:23160513|REF_RGD_ID:155883172 12431117 MIR494 microRNA mir-494 gene DOID:3347 osteosarcoma ameliorates ISO RGD:1603770 D RGD:9068941 20230225 RGD PMID:35117781|REF_RGD_ID:156430319 12431117 MIR494 microRNA mir-494 gene DOID:3347 osteosarcoma severity ISO RGD:1603770 D RGD:9068941 20230225 RGD PMID:35117781|REF_RGD_ID:156430319 12431117 MIR494 microRNA mir-494 gene DOID:3498 pancreatic ductal adenocarcinoma ameliorates ISO RGD:1603770 D RGD:9068941 20230225 RGD PMID:24859161|REF_RGD_ID:156430321 12431117 MIR494 microRNA mir-494 gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:1603770 D RGD:9068941 20230225 RGD PMID:24859161|REF_RGD_ID:156430321 12431117 MIR494 microRNA mir-494 gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:1608177 D RGD:9068941 20230225 RGD PMID:31465536|PMID:32239566|REF_RGD_ID:155883173|REF_RGD_ID:156430320 12431117 MIR494 microRNA mir-494 gene DOID:3526 cerebral infarction disease_progression ISO RGD:1603770 D RGD:9068941 20230209 RGD PMID:32239566|REF_RGD_ID:155883173 12431117 MIR494 microRNA mir-494 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1603770 D RGD:9068941 20211217 RGD mRNA:decreased expression:esophagus PMID:25480402|REF_RGD_ID:150530497 12431117 MIR494 microRNA mir-494 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1603770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12431117 MIR494 microRNA mir-494 gene DOID:4947 cholangiocarcinoma exacerbates ISO RGD:1603770 D RGD:9068941 20230216 RGD PMID:30314946|REF_RGD_ID:156420141 12431117 MIR494 microRNA mir-494 gene DOID:4947 cholangiocarcinoma severity ISO RGD:1603770 D RGD:9068941 20230216 RGD PMID:30314946|REF_RGD_ID:156420141 12431117 MIR494 microRNA mir-494 gene DOID:5199 ureteral obstruction ISO RGD:1608177 D RGD:9068941 20230216 RGD PMID:25854542|REF_RGD_ID:156420140 12431117 MIR494 microRNA mir-494 gene DOID:5520 head and neck squamous cell carcinoma exacerbates ISO RGD:1603770 D RGD:9068941 20230209 RGD PMID:26090866|REF_RGD_ID:11529207 12431117 MIR494 microRNA mir-494 gene DOID:6000 congestive heart failure ISO RGD:1603770 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12431117 MIR494 microRNA mir-494 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1603770 D RGD:9068941 20230209 RGD PMID:25820676|REF_RGD_ID:155900754 12431117 MIR494 microRNA mir-494 gene DOID:9000039 Spinal Cord Injuries ameliorates ISO RGD:2325523 D RGD:9068941 20230216 RGD PMID:28601045|REF_RGD_ID:156420142 12431117 MIR494 microRNA mir-494 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1603770 D RGD:9068941 20230216 RGD PMID:30314946|REF_RGD_ID:156420141 12431117 MIR494 microRNA mir-494 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1603770 D RGD:9068941 20230225 RGD associated with osteosarcoma; RNA:decreased expression:bone, serum PMID:35117781|REF_RGD_ID:156430319 12431117 MIR494 microRNA mir-494 gene DOID:9004484 Sepsis ISO RGD:1603770 D RGD:9068941 20230216 RGD RNA:decreased expression:plasma PMID:31002148|REF_RGD_ID:155900762 12431117 MIR494 microRNA mir-494 gene DOID:9004739 Cicatrix ameliorates ISO RGD:1608177 D RGD:9068941 20230209 RGD PMID:31069607|REF_RGD_ID:155900752 12431117 MIR494 microRNA mir-494 gene DOID:9005172 Lung Neoplasms ISO RGD:1603770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12431117 MIR494 microRNA mir-494 gene DOID:9006223 Kidney Reperfusion Injury ameliorates ISO RGD:1608177 D RGD:9068941 20230209 RGD PMID:23160513|REF_RGD_ID:155883172 12431117 MIR494 microRNA mir-494 gene DOID:9006618 Liver Metastasis exacerbates ISO RGD:1603770 D RGD:9068941 20230225 RGD associated with pancreatic ductal adenocarcinoma; PMID:24859161|REF_RGD_ID:156430321 12431117 MIR494 microRNA mir-494 gene DOID:9006956 nephrotoxicity ISO RGD:1608177 D RGD:9068941 20230216 RGD PMID:25854542|REF_RGD_ID:156420140 12431117 MIR494 microRNA mir-494 gene DOID:9007096 Stroke severity ISO RGD:1603770 D RGD:9068941 20230225 RGD PMID:31465536|REF_RGD_ID:156430320 12431117 MIR494 microRNA mir-494 gene DOID:9007436 Hypertrophic Cicatrix ISO RGD:1603770 D RGD:9068941 20230209 RGD RNA:decreased expression:skin PMID:31069607|REF_RGD_ID:155900752 12431117 MIR494 microRNA mir-494 gene DOID:9007787 Carcinoid Tumor ISO RGD:1603770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 12431117 MIR494 microRNA mir-494 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1608177 D RGD:9068941 20230209 RGD PMID:20837890|REF_RGD_ID:155883174 12431117 MIR494 microRNA mir-494 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:1608177 D RGD:9068941 20230209 RGD PMID:20837890|PMID:33982231|REF_RGD_ID:155883171|REF_RGD_ID:155883174 12431117 MIR494 microRNA mir-494 gene DOID:9009121 lung metastasis ameliorates ISO RGD:1603770 D RGD:9068941 20230209 RGD associated with hepatocellular carcinoma PMID:25820676|REF_RGD_ID:155900754 12431117 MIR494 microRNA mir-494 gene DOID:9009121 lung metastasis ameliorates ISO RGD:1603770 D RGD:9068941 20230225 RGD PMID:28055013|REF_RGD_ID:156430322 12431183 RET ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:7240710 20180130 OMIM 12431183 RET ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a | ClinVar Annotator: match by term: PTC syndrome PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22648435|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22734615|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23400839|PMID:23407919|PMID:23416954|PMID:23441071|PMID:23461807|PMID:23468374|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24064755|PMID:24134185|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24449023|PMID:24449676|PMID:24561444|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24897126|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25143909|PMID:25157968|PMID:25256751|PMID:25319874|PMID:25326637|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25767701|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26845104|PMID:26876062|PMID:26920351|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27798940|PMID:27807060|PMID:27809725|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28166811|PMID:28202063|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29097883|PMID:29133048|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29312610|PMID:29338689|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29549836|PMID:29590403|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30446652|PMID:30624503|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:31937788|PMID:32091409|PMID:32099073|PMID:32179705|PMID:32283892|PMID:32375120|PMID:32430905|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33433679|PMID:33532864|PMID:33827484|PMID:33981013|PMID:34771502|PMID:35535697|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114939|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9075701|PMID:9090527|PMID:9097963|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9150704|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724 12431183 RET ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a | ClinVar Annotator: match by term: PTC syndrome PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9764818|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9868860|PMID:9879991|PMID:9950371 12431183 RET ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a | ClinVar Annotator: match by term: PTC syndrome PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10465268|PMID:10484767|PMID:10490816|PMID:10521317|PMID:10522989|PMID:10528857|PMID:10549772|PMID:10612852|PMID:10618407|PMID:10646792|PMID:10664228|PMID:10679286|PMID:10777380|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10946353|PMID:10980580|PMID:10982477|PMID:11061555|PMID:11073534|PMID:11114642|PMID:11149622|PMID:11230481|PMID:11238493|PMID:11295841|PMID:11313948|PMID:11331212|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11390647|PMID:11395220|PMID:11436122|PMID:11454140|PMID:11471675|PMID:11502806|PMID:11524247|PMID:11562352|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11692159|PMID:11732489|PMID:11739416|PMID:11746981|PMID:11788682|PMID:11849247|PMID:11932300|PMID:11935126|PMID:11939755|PMID:11950855|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12050290|PMID:12072055|PMID:12086152|PMID:12116277|PMID:12150334|PMID:12193298|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12466368|PMID:12490841|PMID:12566528|PMID:12604374|PMID:12640453|PMID:12673960|PMID:12686527|PMID:12694233|PMID:12734540|PMID:12746565|PMID:12788868|PMID:12865274|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14517954|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15240641|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15345114|PMID:15386323|PMID:15472167|PMID:15523405|PMID:15531548|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15592804|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:15991157|PMID:16053382|PMID:16091499|PMID:16099853|PMID:16118333|PMID:16199547|PMID:16227613|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16325365|PMID:16343097|PMID:16343103|PMID:16384843|PMID:16391329|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16507829|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16736292|PMID:16767674|PMID:16778204|PMID:16813623|PMID:16817830|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17372903|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18284634|PMID:18299477|PMID:18322301|PMID:18541894|PMID:18551016|PMID:18772120|PMID:18805915|PMID:18936155|PMID:18976013|PMID:18984779|PMID:19015274|PMID:19029228|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19177457|PMID:19201392|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19366855|PMID:19399650|PMID:19443294|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19475497|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20087666|PMID:20103606|PMID:20119574|PMID:20123584|PMID:20142552|PMID:20152359|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20454948|PMID:20456320|PMID:20473317|PMID:20494215|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20598273|PMID:20664475|PMID:20719260|PMID:20739875|PMID:20801952|PMID:20833330|PMID:20847059|PMID:20943719|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21186952|PMID:21253810|PMID:21254918|PMID:21309721 12431183 RET ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a | ClinVar Annotator: match by term: PTC syndrome PMID:21311890|PMID:21349203|PMID:21422799|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21475823|PMID:21479187|PMID:21490379|PMID:21542403|PMID:21551259|PMID:21606412|PMID:21626080|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21934104|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22136840|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584703|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22648435|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22734615|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23140918|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23400839|PMID:23407919|PMID:23416954|PMID:23441071|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24449676|PMID:24560924|PMID:24561444|PMID:24569963|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24897126|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25143909|PMID:25157968|PMID:25244518|PMID:25256751|PMID:25319874|PMID:25326637|PMID:25349307|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25569433|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25767701|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26254625|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26758973|PMID:26845104|PMID:26876062|PMID:26883533|PMID:26920351|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27349013|PMID:27379493|PMID:27400880|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27704398|PMID:27798940|PMID:27807060|PMID:27809725|PMID:27838608|PMID:27847096|PMID:27884173|PMID:27986441|PMID:27994876|PMID:28018431|PMID:28099363|PMID:28125075|PMID:28137737|PMID:28202063|PMID:28276298|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28747092|PMID:28799054|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29077903|PMID:29097883|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29312610|PMID:29338689|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29515777|PMID:29549836|PMID:29590403|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30172768|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30446652|PMID:30550378|PMID:30583724|PMID:30618340|PMID:30624503|PMID:30660595|PMID:30666164|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31300450|PMID:31428572|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:31658439|PMID:31666091|PMID:31937788|PMID:31983649|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32430905|PMID:32732076 12431183 RET ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a | ClinVar Annotator: match by term: PTC syndrome PMID:32761341|PMID:32823925|PMID:32923848|PMID:32989896|PMID:33084974|PMID:33167350|PMID:33340421|PMID:33433679|PMID:33450337|PMID:33532864|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34358225|PMID:34646395|PMID:34771502|PMID:34925234|PMID:35535697|PMID:36251279|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8654369|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8852653|PMID:8855832|PMID:8894691|PMID:8896569|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9075701|PMID:9090527|PMID:9097963|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9150704|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9294615|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681515|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9745455|PMID:9760196|PMID:9764818|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9868860|PMID:9879991|PMID:9950371 12431183 RET ret proto-oncogene gene DOID:0050547 familial medullary thyroid carcinoma ISO RGD:735296 D RGD:7240710 20180130 OMIM 12431183 RET ret proto-oncogene gene DOID:0050547 familial medullary thyroid carcinoma ISO RGD:735296 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary PMID:10024437|PMID:10076558|PMID:10220148|PMID:10235148|PMID:10323403|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10490816|PMID:10549772|PMID:10646792|PMID:10679286|PMID:10777380|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10982477|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11351254|PMID:11386462|PMID:11436122|PMID:11454140|PMID:11471675|PMID:11562352|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11932300|PMID:11935126|PMID:11939755|PMID:12000816|PMID:12019403|PMID:12116277|PMID:12150334|PMID:12193298|PMID:12409662|PMID:12410354|PMID:12490841|PMID:12566528|PMID:12686527|PMID:12694233|PMID:12788868|PMID:12920219|PMID:14517954|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15240641|PMID:15277225|PMID:15292360|PMID:15345114|PMID:15386323|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15753368|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15991157|PMID:16118333|PMID:16275981|PMID:16314641|PMID:16325365|PMID:16343097|PMID:16384843|PMID:16441254|PMID:16469774|PMID:16507829|PMID:16525712|PMID:16532227|PMID:16649977|PMID:16705552|PMID:16712668|PMID:16715139|PMID:16736292|PMID:16813623|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17097365|PMID:17108110|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17540634|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18248648|PMID:18252215|PMID:18299477|PMID:18541894|PMID:18805915|PMID:18984779|PMID:19041016|PMID:19169500|PMID:19201392|PMID:19255327|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19826964|PMID:19906784|PMID:19958926|PMID:20039896|PMID:20041006|PMID:20065189|PMID:20080836|PMID:20087666|PMID:20103606|PMID:20142552|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20494215|PMID:20497437|PMID:20516206|PMID:20554711|PMID:20719260|PMID:20739875|PMID:20833330|PMID:20847059|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21253810|PMID:21254918|PMID:21309721|PMID:21311890|PMID:21422799|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21626080|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21711375|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22359510|PMID:22403753|PMID:22584710|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:24033266|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24449023|PMID:24569963|PMID:24616773|PMID:24617864|PMID:24684035|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24805091|PMID:24845513|PMID:25157968|PMID:25319874|PMID:25349307|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25759805|PMID:25767701|PMID:25810047|PMID:25887804|PMID:25903693|PMID:26033033|PMID:26046350|PMID:26084817|PMID:26230854|PMID:26247112|PMID:26254625|PMID:26269449|PMID:26356818|PMID:26395553|PMID:26467025|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26758973|PMID:26845104|PMID:26920351|PMID:27099842|PMID:27153395|PMID:27539324|PMID:27673361|PMID:27807060|PMID:27809725|PMID:27884173|PMID:27994876|PMID:28125075|PMID:28137737|PMID:28323957|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29026273|PMID:29097883|PMID:29192238|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29549836 12431183 RET ret proto-oncogene gene DOID:0050547 familial medullary thyroid carcinoma ISO RGD:735296 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary PMID:29590403|PMID:29625052|PMID:29656518|PMID:29684080|PMID:29790872|PMID:30172768|PMID:30392857|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31447099|PMID:31510104|PMID:31937788|PMID:32164334|PMID:32179705|PMID:32293499|PMID:32732076|PMID:32923848|PMID:33084974|PMID:33167350|PMID:33450337|PMID:33827484|PMID:35535697|PMID:3697657|PMID:7536460|PMID:7595170|PMID:7633441|PMID:7647787|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8099202|PMID:8103403|PMID:8114940|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8675603|PMID:8733882|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9067749|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9498388|PMID:9506724|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9727738|PMID:9745455|PMID:9760196|PMID:9824583|PMID:9839497|PMID:9868860|PMID:9879991|PMID:9950371 12431183 RET ret proto-oncogene gene DOID:0050771 pheochromocytoma ISO RGD:735296 D RGD:7240710 20180130 OMIM 12431183 RET ret proto-oncogene gene DOID:0050771 pheochromocytoma ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:10369718|PMID:10445857|PMID:10522989|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10980580|PMID:11230481|PMID:11238493|PMID:11351254|PMID:11389085|PMID:11436122|PMID:11524247|PMID:11589684|PMID:11732489|PMID:11939755|PMID:11950855|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12150334|PMID:12214285|PMID:12466368|PMID:12566528|PMID:12604374|PMID:12686527|PMID:12746565|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:15184865|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15588376|PMID:15592804|PMID:15741265|PMID:15753368|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16091499|PMID:16099853|PMID:16118333|PMID:16314641|PMID:16424056|PMID:16441254|PMID:16525712|PMID:16532227|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16715139|PMID:16732321|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17065770|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17270543|PMID:17316110|PMID:17384210|PMID:17483988|PMID:17540634|PMID:17573899|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18209889|PMID:18252215|PMID:18284634|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19201392|PMID:19255327|PMID:19269918|PMID:19399650|PMID:19469690|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19906784|PMID:20039896|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20123584|PMID:20368568|PMID:20454948|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20943719|PMID:20956458|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22900816|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23416954|PMID:23441071|PMID:23461807|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24331334|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24561444|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24784869|PMID:24845513|PMID:24897126|PMID:25027091|PMID:25143909|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25515555|PMID:25637381|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26332594|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26732158|PMID:26920351|PMID:27077130|PMID:27153395|PMID:27379493|PMID:27539324|PMID:27600092|PMID:27698838|PMID:27798940|PMID:27807060|PMID:27884173|PMID:28099363|PMID:28166811|PMID:28469506|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29026273|PMID:2904651|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29263839|PMID:29420094|PMID:29549836|PMID:29642553|PMID:30217742|PMID:30306255|PMID:30392857|PMID:30624503|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31510104|PMID:31614935|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365 12431183 RET ret proto-oncogene gene DOID:0050771 pheochromocytoma ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:8099202|PMID:8103403|PMID:8114938|PMID:8570194|PMID:8595427|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8909322|PMID:8918855|PMID:9067749|PMID:9090527|PMID:9111993|PMID:9230192|PMID:9242375|PMID:9467562|PMID:9506724|PMID:9620546|PMID:9681850|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9950371 12431183 RET ret proto-oncogene gene DOID:0050771 pheochromocytoma ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:10369718|PMID:10445857|PMID:10522989|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10980580|PMID:11230481|PMID:11238493|PMID:11351254|PMID:11389085|PMID:11436122|PMID:11524247|PMID:11589684|PMID:11732489|PMID:11939755|PMID:11950855|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12150334|PMID:12214285|PMID:12466368|PMID:12566528|PMID:12604374|PMID:12686527|PMID:12746565|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:15184865|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15588376|PMID:15592804|PMID:15741265|PMID:15753368|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16091499|PMID:16099853|PMID:16118333|PMID:16314641|PMID:16424056|PMID:16441254|PMID:16525712|PMID:16532227|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16715139|PMID:16732321|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17065770|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17270543|PMID:17316110|PMID:17384210|PMID:17483988|PMID:17540634|PMID:17573899|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18209889|PMID:18252215|PMID:18284634|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19201392|PMID:19255327|PMID:19269918|PMID:19399650|PMID:19469690|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19906784|PMID:20039896|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20123584|PMID:20368568|PMID:20454948|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20943719|PMID:20956458|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22900816|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23416954|PMID:23441071|PMID:23461807|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24331334|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24561444|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24784869|PMID:24845513|PMID:24897126|PMID:25027091|PMID:25143909|PMID:25157968|PMID:25256751|PMID:25326637|PMID:25425582|PMID:25440022|PMID:25515555|PMID:25569433|PMID:25628771|PMID:25637381|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26332594|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26732158|PMID:26883533|PMID:26920351|PMID:27077130|PMID:27153395|PMID:27379493|PMID:27539324|PMID:27600092|PMID:27698838|PMID:27798940|PMID:27807060|PMID:27884173|PMID:28099363|PMID:28469506|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29026273|PMID:2904651|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29263839|PMID:29420094|PMID:29549836|PMID:29642553|PMID:30217742|PMID:30306255|PMID:30392857|PMID:30583724|PMID:30624503|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33827484|PMID:34925234|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899 12431183 RET ret proto-oncogene gene DOID:0050771 pheochromocytoma ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:7845675|PMID:7849700|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8570194|PMID:8595427|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8909322|PMID:8918855|PMID:9067749|PMID:9090527|PMID:9111993|PMID:9230192|PMID:9242375|PMID:9467562|PMID:9506724|PMID:9620546|PMID:9681850|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9950371 12431183 RET ret proto-oncogene gene DOID:0050902 medulloblastoma ISO RGD:735296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:11436122|PMID:24033266|PMID:25741868|PMID:28492532 12431183 RET ret proto-oncogene gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:735296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital central hypoventilation PMID:10076558|PMID:10090908|PMID:10618407|PMID:10679286|PMID:10826520|PMID:10876191|PMID:11114642|PMID:11238493|PMID:11732489|PMID:11788682|PMID:12019403|PMID:12086152|PMID:12193298|PMID:12410354|PMID:14557476|PMID:14633923|PMID:15184865|PMID:15386323|PMID:15741265|PMID:15858153|PMID:16325365|PMID:16343097|PMID:16532227|PMID:16849421|PMID:16865647|PMID:16868135|PMID:17032739|PMID:17047083|PMID:17108762|PMID:17316110|PMID:17384210|PMID:17466010|PMID:17590169|PMID:17605401|PMID:17664273|PMID:17704047|PMID:17895320|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18299477|PMID:19445625|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20041006|PMID:20142552|PMID:20369307|PMID:20473317|PMID:20494215|PMID:20516206|PMID:20532249|PMID:20719260|PMID:20979234|PMID:21134561|PMID:21309721|PMID:21454698|PMID:21475823|PMID:21479187|PMID:21711375|PMID:21712996|PMID:21810974|PMID:22174939|PMID:22584709|PMID:22703879|PMID:23084198|PMID:23259706|PMID:23341727|PMID:23468374|PMID:23514012|PMID:24033266|PMID:24336963|PMID:24361808|PMID:24617864|PMID:24728327|PMID:25349307|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25624014|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25903693|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26467025|PMID:26559152|PMID:26580448|PMID:26758973|PMID:26845104|PMID:27099842|PMID:28125075|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29590403|PMID:29625052|PMID:29656518|PMID:29684080|PMID:3078962|PMID:31510104|PMID:32923848|PMID:33167350|PMID:33450337|PMID:33827484|PMID:7824936|PMID:7835899|PMID:7907913|PMID:7915165|PMID:8099202|PMID:8626834|PMID:8797874|PMID:8896569|PMID:9067749|PMID:9174404|PMID:9230192|PMID:9452077|PMID:9498388|PMID:9606292|PMID:9839497|PMID:9868860|PMID:9879991 12431183 RET ret proto-oncogene gene DOID:0080137 multiple endocrine neoplasia type 4 ISO RGD:735296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV | ClinVar Annotator: match by term: Multiple endocrine neoplasia type 4 PMID:10024437|PMID:10076558|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10490816|PMID:10522989|PMID:10679286|PMID:10790203|PMID:11114642|PMID:11230481|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11524247|PMID:11562352|PMID:11688458|PMID:11739416|PMID:11849247|PMID:11935126|PMID:11939755|PMID:11987030|PMID:12000816|PMID:12116277|PMID:12466368|PMID:12566528|PMID:12604374|PMID:12673960|PMID:12686527|PMID:12746565|PMID:12788868|PMID:12920219|PMID:14561794|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15345114|PMID:15472167|PMID:15523405|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15753368|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15991157|PMID:16053382|PMID:16099853|PMID:16118333|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16343097|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16705552|PMID:16707008|PMID:16715139|PMID:16736292|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17021738|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17384210|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18252215|PMID:18541894|PMID:18984779|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19255327|PMID:19336503|PMID:19469690|PMID:19472011|PMID:19825962|PMID:19826964|PMID:19906784|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20368568|PMID:20497437|PMID:20516206|PMID:20554711|PMID:20847059|PMID:20943719|PMID:20979234|PMID:21054478|PMID:21253810|PMID:21254918|PMID:21311890|PMID:21422799|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21655256|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22359510|PMID:22584710|PMID:22676344|PMID:22703879|PMID:22900816|PMID:22992277|PMID:23056499|PMID:23295303|PMID:23416954|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23861463|PMID:24033266|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24375508|PMID:24449023|PMID:24561444|PMID:24617864|PMID:24716929|PMID:24784869|PMID:24805091|PMID:24845513|PMID:25027091|PMID:25157968|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25887804|PMID:26046350|PMID:26084817|PMID:26269449|PMID:26356818|PMID:26467025|PMID:26556299|PMID:2660074|PMID:26678667|PMID:26732158|PMID:27153395|PMID:27539324|PMID:27698838|PMID:27807060|PMID:27994876|PMID:28099363|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28951487|PMID:2904651|PMID:29097883|PMID:29133048|PMID:29197744|PMID:29396759|PMID:29656518|PMID:29790872|PMID:30172768|PMID:30624503|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30884088|PMID:30927507|PMID:31447099|PMID:31510104|PMID:32179705|PMID:32408902|PMID:33167350|PMID:33827484|PMID:34092334|PMID:7536460|PMID:7608256|PMID:7633441|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7977365|PMID:8099202|PMID:8103403|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9067749|PMID:9090527|PMID:9111992|PMID:9146685|PMID:9150704|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9498388|PMID:9506724|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9699127|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9879991 12431183 RET ret proto-oncogene gene DOID:0080137 multiple endocrine neoplasia type 4 ISO RGD:735296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV | ClinVar Annotator: match by term: Multiple endocrine neoplasia type 4 PMID:9950371 12431183 RET ret proto-oncogene gene DOID:0080204 renal hypoplasia ISO RGD:735296 D RGD:9068941 20221110 RGD DNA:SNP:exon 7:rs1800860 (human) PMID:18820179|REF_RGD_ID:155641253 12431183 RET ret proto-oncogene gene DOID:0080205 CAKUT ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:27657687|PMID:28492532|PMID:29641532 12431183 RET ret proto-oncogene gene DOID:0080855 Parkinsonism ISO RGD:3556 D RGD:9068941 20200609 RGD mRNA:altered expression:brain PMID:12210101|REF_RGD_ID:6218972 12431183 RET ret proto-oncogene gene DOID:10016 multiple endocrine neoplasia type 2B ISO RGD:735296 D RGD:7240710 20180130 OMIM 12431183 RET ret proto-oncogene gene DOID:10016 multiple endocrine neoplasia type 2B ISO RGD:735296 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MEN 2B | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2b PMID:10024437|PMID:10076558|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10490816|PMID:10522989|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10921886|PMID:11061555|PMID:11114642|PMID:11230481|PMID:11295841|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11436122|PMID:11524247|PMID:11562352|PMID:11688458|PMID:11739416|PMID:11849247|PMID:11935126|PMID:11939755|PMID:11950855|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12116277|PMID:12466368|PMID:12566528|PMID:12604374|PMID:12640453|PMID:12673960|PMID:12686527|PMID:12746565|PMID:12788868|PMID:12872262|PMID:12920219|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15345114|PMID:15472167|PMID:15523405|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15592804|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15834508|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15956201|PMID:15991157|PMID:16053382|PMID:16091499|PMID:16099853|PMID:16118333|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16343097|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16736292|PMID:16767674|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17009072|PMID:17021738|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17384210|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18252215|PMID:18284634|PMID:18541894|PMID:18805915|PMID:18976013|PMID:18984779|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19255327|PMID:19336503|PMID:19443294|PMID:19469690|PMID:19472011|PMID:19825962|PMID:19826964|PMID:19906784|PMID:20013610|PMID:20039896|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20103606|PMID:20123584|PMID:20368568|PMID:20454948|PMID:20473317|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20664475|PMID:20847059|PMID:20943719|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21253810|PMID:21254918|PMID:21311890|PMID:21349203|PMID:21422799|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21475823|PMID:21479187|PMID:21490379|PMID:21542403|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21690267|PMID:21711375|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21934104|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22359510|PMID:22395866|PMID:22517557|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22900816|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23084198|PMID:23259706|PMID:23295303|PMID:23416954|PMID:23441071|PMID:23461807|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23745650|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24449023|PMID:24561444|PMID:24569963|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24897126|PMID:25027091|PMID:25143909|PMID:25157968|PMID:25319874|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26084817|PMID:26206375|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26556299|PMID:26559152|PMID:26580448 12431183 RET ret proto-oncogene gene DOID:10016 multiple endocrine neoplasia type 2B ISO RGD:735296 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MEN 2B | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2b PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26876062|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27807060|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28137737|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28578594|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:2904651|PMID:29077903|PMID:29097883|PMID:29133048|PMID:29197744|PMID:29396759|PMID:29420094|PMID:29625052|PMID:29656518|PMID:29684080|PMID:29790872|PMID:30172768|PMID:30197081|PMID:30217742|PMID:30446652|PMID:30624503|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31666091|PMID:32164334|PMID:32179705|PMID:32293499|PMID:32408902|PMID:32989896|PMID:33084974|PMID:33167350|PMID:33340421|PMID:33827484|PMID:34092334|PMID:7536460|PMID:7581377|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7977365|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9067749|PMID:9090527|PMID:9111992|PMID:9146685|PMID:9150704|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9879991|PMID:9950371 12431183 RET ret proto-oncogene gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:735296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 | ClinVar Annotator: match by term: Wermer syndrome PMID:10024437|PMID:10076558|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10490816|PMID:10522989|PMID:10679286|PMID:10790203|PMID:11114642|PMID:11230481|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11524247|PMID:11562352|PMID:11688458|PMID:11739416|PMID:11849247|PMID:11935126|PMID:11939755|PMID:11987030|PMID:12000816|PMID:12116277|PMID:12466368|PMID:12566528|PMID:12604374|PMID:12673960|PMID:12686527|PMID:12746565|PMID:12788868|PMID:12920219|PMID:14561794|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15345114|PMID:15472167|PMID:15523405|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15753368|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15991157|PMID:16053382|PMID:16099853|PMID:16118333|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16343097|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16705552|PMID:16707008|PMID:16715139|PMID:16736292|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17021738|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17384210|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18252215|PMID:18541894|PMID:18984779|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19255327|PMID:19336503|PMID:19469690|PMID:19472011|PMID:19825962|PMID:19826964|PMID:19906784|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20368568|PMID:20497437|PMID:20516206|PMID:20554711|PMID:20847059|PMID:20943719|PMID:20979234|PMID:21054478|PMID:21253810|PMID:21254918|PMID:21311890|PMID:21422799|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21655256|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22359510|PMID:22584710|PMID:22676344|PMID:22703879|PMID:22900816|PMID:22992277|PMID:23056499|PMID:23295303|PMID:23416954|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23861463|PMID:24033266|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24375508|PMID:24449023|PMID:24561444|PMID:24617864|PMID:24716929|PMID:24784869|PMID:24805091|PMID:24845513|PMID:25027091|PMID:25157968|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25887804|PMID:26046350|PMID:26084817|PMID:26269449|PMID:26356818|PMID:26467025|PMID:26556299|PMID:2660074|PMID:26678667|PMID:26732158|PMID:27153395|PMID:27539324|PMID:27698838|PMID:27807060|PMID:27994876|PMID:28099363|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28951487|PMID:2904651|PMID:29097883|PMID:29133048|PMID:29197744|PMID:29396759|PMID:29656518|PMID:29790872|PMID:30172768|PMID:30624503|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30884088|PMID:30927507|PMID:31447099|PMID:31510104|PMID:32179705|PMID:32408902|PMID:33167350|PMID:33827484|PMID:34092334|PMID:7536460|PMID:7608256|PMID:7633441|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7977365|PMID:8099202|PMID:8103403|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9067749|PMID:9090527|PMID:9111992|PMID:9146685|PMID:9150704|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9498388|PMID:9506724|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9699127|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9879991 12431183 RET ret proto-oncogene gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:735296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 | ClinVar Annotator: match by term: Wermer syndrome PMID:9950371 12431183 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:7240710 20230505 OMIM 12431183 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11732489|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12686527|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:16118333|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16712668|PMID:16715139|PMID:16767674|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17605401|PMID:17610518|PMID:17895320|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19029228|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20598273|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23461807|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24569963|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25319874|PMID:25425582|PMID:25440022|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26269449|PMID:26332594|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28018431|PMID:28099363|PMID:28166811|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29020875|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31159747|PMID:31510104|PMID:31614935|PMID:32283892|PMID:33167350|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8894691|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9384613|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546 12431183 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 12431183 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11732489|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:16118333|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16715139|PMID:16767674|PMID:16849421|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17605401|PMID:17610518|PMID:17895320|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20598273|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21688339|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23461807|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24617864|PMID:24651702|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26269449|PMID:26332594|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28166811|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29020875|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31159747|PMID:31510104|PMID:31614935|PMID:32179705|PMID:32283892|PMID:33167350|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9384613|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 12431183 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11732489|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:16118333|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16715139|PMID:16767674|PMID:16849421|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17605401|PMID:17610518|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20598273|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21688339|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23461807|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24617864|PMID:24651702|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26269449|PMID:26332594|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:27014708|PMID:27077130|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28166811|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29020875|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31510104|PMID:31614935|PMID:32091409|PMID:32099073|PMID:32179705|PMID:32283892|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33981013|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9384613|PMID:9497256|PMID:9502784|PMID:9506724 12431183 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 PMID:9536098|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 12431183 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11732489|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:16118333|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16715139|PMID:16767674|PMID:16849421|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17605401|PMID:17610518|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20598273|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23461807|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24617864|PMID:24651702|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26269449|PMID:26332594|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:27014708|PMID:27077130|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28166811|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29020875|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31510104|PMID:31614935|PMID:32091409|PMID:32099073|PMID:32179705|PMID:32283892|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33981013|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9384613|PMID:9497256|PMID:9502784 12431183 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 12431183 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10618407|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11732489|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16715139|PMID:16732321|PMID:16767674|PMID:16849421|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17605401|PMID:17610518|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20598273|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23461807|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26269449|PMID:26332594|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:27014708|PMID:27077130|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28166811|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29020875|PMID:29192238|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31510104|PMID:31614935|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33981013|PMID:34092334|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8807338 12431183 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 PMID:8896569|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9384613|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 12431183 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10618407|PMID:10646792|PMID:10664228|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12686527|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15472167|PMID:15531714|PMID:15588381|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16227613|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16715139|PMID:16732321|PMID:16767674|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20598273|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23295303|PMID:23461807|PMID:23526464|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24560924|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24845513|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25569433|PMID:25637381|PMID:25694125|PMID:25733075|PMID:25741868|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26254625|PMID:26269449|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:26883533|PMID:27014708|PMID:27077130|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27854218|PMID:27884173|PMID:28166811|PMID:28323957|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29192238|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553 12431183 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30583724|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34358225|PMID:34925234|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8896569|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 12431183 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10618407|PMID:10646792|PMID:10664228|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12686527|PMID:12865274|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15472167|PMID:15531714|PMID:15588381|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16227613|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16767674|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19029228|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20598273|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23295303|PMID:23461807|PMID:23526464|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24560924|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24845513|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25569433|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25733075|PMID:25741868|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26254625|PMID:26269449|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:26883533|PMID:27014708|PMID:27077130|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27854218|PMID:27884173|PMID:28018431|PMID:28099363|PMID:28323957|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29192238|PMID:29263839 12431183 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:29338689|PMID:29408964|PMID:29420094|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30583724|PMID:30624503|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34358225|PMID:34925234|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8654369|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8894691|PMID:8896569|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681515|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 12431183 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10618407|PMID:10646792|PMID:10664228|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12686527|PMID:12865274|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15472167|PMID:15531714|PMID:15588381|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16227613|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16767674|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19029228|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20598273|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23295303|PMID:23461807|PMID:23526464|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24560924|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24845513|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25569433|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25733075|PMID:25741868|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26254625|PMID:26269449|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:26883533|PMID:27014708|PMID:27077130|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28018431|PMID:28099363|PMID:28323957|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29192238|PMID:29263839|PMID:29338689 12431183 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:29408964|PMID:29420094|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30583724|PMID:30624503|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34358225|PMID:34925234|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8654369|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8894691|PMID:8896569|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681515|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 12431183 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10618407|PMID:10646792|PMID:10664228|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12086152|PMID:12193298|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12686527|PMID:12865274|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15386323|PMID:15472167|PMID:15531714|PMID:15588381|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16227613|PMID:16322339|PMID:16343097|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16767674|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17316110|PMID:17372903|PMID:17466010|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18280283|PMID:18299477|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19029228|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20142552|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20494215|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20598273|PMID:20719260|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21253810|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24267509|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24560924|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24845513|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25349307|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25569433|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26254625|PMID:26269449 12431183 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:26758973|PMID:26845104|PMID:26883533|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27717313|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28018431|PMID:28099363|PMID:28125075|PMID:28323957|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29192238|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29590403|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30583724|PMID:30624503|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:31666091|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32732076|PMID:32761341|PMID:32923848|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33450337|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34358225|PMID:34925234|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8654369|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8894691|PMID:8896569|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681515|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 12431183 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10618407|PMID:10646792|PMID:10664228|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12086152|PMID:12193298|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12686527|PMID:12865274|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15386323|PMID:15472167|PMID:15531714|PMID:15588381|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16227613|PMID:16322339|PMID:16343097|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16767674|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17316110|PMID:17372903|PMID:17466010|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18280283|PMID:18299477|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19029228|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20142552|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20494215|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20598273|PMID:20719260|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21253810|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24267509|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24560924|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24845513|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25326637|PMID:25349307|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25569433|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26254625 12431183 RET ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:26269449|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:26758973|PMID:26845104|PMID:26883533|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27717313|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28018431|PMID:28099363|PMID:28125075|PMID:28323957|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29192238|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29590403|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30583724|PMID:30624503|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:31666091|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32732076|PMID:32761341|PMID:32923848|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33450337|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34358225|PMID:34925234|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8654369|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8894691|PMID:8896569|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681515|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 12431183 RET ret proto-oncogene gene DOID:10907 microcephaly ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:30217742|PMID:32164334 12431183 RET ret proto-oncogene gene DOID:11372 megacolon ISO RGD:735296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:25741868 12431183 RET ret proto-oncogene gene DOID:11836 clubfoot ISO RGD:11234 D RGD:9068941 20220825 MouseDO OMIM:119800 12431183 RET ret proto-oncogene gene DOID:14566 disease of cellular proliferation ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:11230481|PMID:11524247|PMID:12000816|PMID:12116277|PMID:12604374|PMID:12686527|PMID:12746565|PMID:14715928|PMID:15184865|PMID:15855933|PMID:16099853|PMID:16736292|PMID:16868135|PMID:17047083|PMID:17097365|PMID:18062802|PMID:18063059|PMID:18096130|PMID:19062722|PMID:19469690|PMID:2008030|PMID:20080836|PMID:21655256|PMID:21765987|PMID:23723040|PMID:24716929|PMID:25157968|PMID:25515555|PMID:25741868|PMID:25810047|PMID:26046350|PMID:26467025|PMID:26732158|PMID:27539324|PMID:28099363|PMID:28469506|PMID:28492532|PMID:29133048|PMID:29197744|PMID:29656518|PMID:3078962|PMID:33167350|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7860065|PMID:7881414|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:8099202|PMID:8570194|PMID:9067749|PMID:9111992|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9699127|PMID:9820617|PMID:9950371 12431183 RET ret proto-oncogene gene DOID:1459 hypothyroidism ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:30660595|PMID:3078962|PMID:31510104|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 12431183 RET ret proto-oncogene gene DOID:14766 renal agenesis ISO RGD:735296 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: RENAL APLASIA PMID:11230481|PMID:15320968|PMID:16849421|PMID:18058472|PMID:18322301|PMID:18936155|PMID:19269918|PMID:19399650|PMID:19522830|PMID:19775624|PMID:19826964|PMID:19906784|PMID:21479187|PMID:21551259|PMID:21986619|PMID:23067224|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26489027|PMID:27379493|PMID:28492532|PMID:28946813|PMID:33167350 12431183 RET ret proto-oncogene gene DOID:1612 breast cancer ISO RGD:735296 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10646792|PMID:11955539|PMID:12566528|PMID:14566559|PMID:14633923|PMID:15741265|PMID:16441254|PMID:16928683|PMID:20956458|PMID:20981092|PMID:21655256|PMID:21995290|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22995991|PMID:23084198|PMID:23527089|PMID:24033266|PMID:24055113|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27153395|PMID:27884173|PMID:28492532|PMID:31614935|PMID:7647787|PMID:7881414|PMID:9727738|PMID:9760196 12431183 RET ret proto-oncogene gene DOID:1793 pancreatic cancer disease_progression ISO RGD:735296 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:16269310|REF_RGD_ID:2324926 12431183 RET ret proto-oncogene gene DOID:1824 status epilepticus ISO RGD:735296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12914250 12431183 RET ret proto-oncogene gene DOID:2316 brain ischemia ISO RGD:3556 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:10407114|REF_RGD_ID:6218981 12431183 RET ret proto-oncogene gene DOID:2394 ovarian cancer ISO RGD:735296 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:10076558|PMID:10679286|PMID:10826520|PMID:10876191|PMID:11114642|PMID:11238493|PMID:11732489|PMID:11788682|PMID:12019403|PMID:12193298|PMID:12410354|PMID:15184865|PMID:15386323|PMID:15741265|PMID:16343097|PMID:16865647|PMID:16868135|PMID:17032739|PMID:17047083|PMID:17316110|PMID:17466010|PMID:17664273|PMID:17895320|PMID:18062802|PMID:18299477|PMID:19445625|PMID:19958926|PMID:20039896|PMID:20142552|PMID:20369307|PMID:20494215|PMID:20516206|PMID:20719260|PMID:21134561|PMID:21309721|PMID:21454698|PMID:21711375|PMID:21810974|PMID:22174939|PMID:23341727|PMID:23468374|PMID:23514012|PMID:24033266|PMID:24336963|PMID:24361808|PMID:24617864|PMID:25349307|PMID:25440022|PMID:25501606|PMID:25624014|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25903693|PMID:26033033|PMID:26046350|PMID:26467025|PMID:26758973|PMID:26845104|PMID:27099842|PMID:28125075|PMID:28492532|PMID:29192238|PMID:29590403|PMID:29641532|PMID:29684080|PMID:30217742|PMID:31510104|PMID:32164334|PMID:32283892|PMID:32923848|PMID:33167350|PMID:33450337|PMID:8797874|PMID:9452077|PMID:9606292 12431183 RET ret proto-oncogene gene DOID:3070 high grade glioma ISO RGD:735296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma PMID:25741868 12431183 RET ret proto-oncogene gene DOID:3086 gingival overgrowth ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Gingival enlargement PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:30660595|PMID:3078962|PMID:31510104|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 12431183 RET ret proto-oncogene gene DOID:3125 multiple endocrine neoplasia ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Endocrine adenomatosis multiple | ClinVar Annotator: match by term: Multiple endocrine neoplasia PMID:10369718|PMID:10445857|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10980580|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11589684|PMID:11732489|PMID:11939755|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12566528|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15741265|PMID:15753368|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16424056|PMID:16441254|PMID:16649977|PMID:16705552|PMID:16715139|PMID:16732321|PMID:16849421|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17483988|PMID:17540634|PMID:17610518|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19399650|PMID:19469690|PMID:19522830|PMID:19775624|PMID:19826964|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20368568|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20801952|PMID:20847059|PMID:20943719|PMID:20956458|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23461807|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24331334|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24651702|PMID:24728327|PMID:24755471|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25326637|PMID:25425582|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26332594|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26580448|PMID:2660074|PMID:26883533|PMID:27077130|PMID:27153395|PMID:27379493|PMID:27539324|PMID:27600092|PMID:27798940|PMID:27807060|PMID:27884173|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29192238|PMID:29263839|PMID:29420094|PMID:29642553|PMID:30217742|PMID:30306255|PMID:30583724|PMID:30660595|PMID:30680046|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33827484|PMID:34925234|PMID:7536460|PMID:7581377|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7845675|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7977365|PMID:8114938|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9090527|PMID:9242375|PMID:9506724|PMID:9620546|PMID:9681850|PMID:9727738|PMID:9760196|PMID:9839497 12431183 RET ret proto-oncogene gene DOID:3459 breast carcinoma ISO RGD:735296 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:25741868|PMID:28492532 12431183 RET ret proto-oncogene gene DOID:3963 thyroid gland carcinoma ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Thyroid gland carcinoma PMID:10522989|PMID:11389085|PMID:11987030|PMID:12000816|PMID:12466368|PMID:15184865|PMID:15472167|PMID:15588376|PMID:16314641|PMID:16525712|PMID:16707008|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865647|PMID:16868135|PMID:17065770|PMID:17102080|PMID:17102083|PMID:17178962|PMID:17270543|PMID:17316110|PMID:17573899|PMID:17605401|PMID:17639058|PMID:17895320|PMID:18063059|PMID:18209889|PMID:19015274|PMID:19825962|PMID:21765987|PMID:21810974|PMID:22900816|PMID:23416954|PMID:23617071|PMID:23861463|PMID:24561444|PMID:24784869|PMID:25027091|PMID:25157968|PMID:25440022|PMID:25515555|PMID:25741868|PMID:25810047|PMID:26467025|PMID:27539324|PMID:27698838|PMID:28469506|PMID:28492532|PMID:2904651|PMID:30624503|PMID:3078962|PMID:31510104|PMID:7608256|PMID:7824936|PMID:7849700|PMID:7907913|PMID:8099202|PMID:8103403|PMID:8570194|PMID:8757765|PMID:8765374|PMID:8909322|PMID:8918855|PMID:9230192 12431183 RET ret proto-oncogene gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:735296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 12431183 RET ret proto-oncogene gene DOID:3973 thyroid gland medullary carcinoma ISO RGD:735296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Medullary thyroid carcinoma | ClinVar Annotator: match by term: Medullary thyroid gland carcinoma PMID:10024437|PMID:10076558|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10490816|PMID:10522989|PMID:10679286|PMID:10790203|PMID:11114642|PMID:11230481|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11524247|PMID:11562352|PMID:11688458|PMID:11739416|PMID:11849247|PMID:11935126|PMID:11939755|PMID:11987030|PMID:12000816|PMID:12116277|PMID:12466368|PMID:12566528|PMID:12604374|PMID:12673960|PMID:12686527|PMID:12746565|PMID:12788868|PMID:12920219|PMID:14561794|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15345114|PMID:15472167|PMID:15523405|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15753368|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15991157|PMID:16053382|PMID:16099853|PMID:16118333|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16343097|PMID:16419493|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16736292|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17021738|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17384210|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18252215|PMID:18541894|PMID:18984779|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19255327|PMID:19336503|PMID:19469690|PMID:19472011|PMID:19825962|PMID:19826964|PMID:19906784|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20497437|PMID:20516206|PMID:20554711|PMID:20847059|PMID:20943719|PMID:20979234|PMID:21054478|PMID:21253810|PMID:21254918|PMID:21311890|PMID:21422799|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21551259|PMID:21655256|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22359510|PMID:22584710|PMID:22676344|PMID:22703879|PMID:22900816|PMID:22992277|PMID:23056499|PMID:23295303|PMID:23416954|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24375508|PMID:24449023|PMID:24561444|PMID:24617864|PMID:24716929|PMID:24784869|PMID:24805091|PMID:24845513|PMID:25027091|PMID:25157968|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25887804|PMID:26046350|PMID:26084817|PMID:26269449|PMID:26332594|PMID:26356818|PMID:26467025|PMID:26556299|PMID:2660074|PMID:26678667|PMID:26732158|PMID:27014708|PMID:27153395|PMID:27539324|PMID:27673361|PMID:27698838|PMID:27807060|PMID:27994876|PMID:28099363|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:2904651|PMID:29097883|PMID:29133048|PMID:29197744|PMID:29396759|PMID:29656518|PMID:29684080|PMID:29790872|PMID:30172768|PMID:30446652|PMID:30624503|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30884088|PMID:30927507|PMID:31300450|PMID:31447099|PMID:31510104|PMID:32179705|PMID:32408902|PMID:33167350|PMID:33340421|PMID:33532864|PMID:33827484|PMID:34092334|PMID:7536460|PMID:7608256|PMID:7633441|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7977365|PMID:8099202|PMID:8103403|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9067749|PMID:9090527|PMID:9111992|PMID:9146685|PMID:9150704|PMID:9174404|PMID:9223675 12431183 RET ret proto-oncogene gene DOID:3973 thyroid gland medullary carcinoma ISO RGD:735296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Medullary thyroid carcinoma | ClinVar Annotator: match by term: Medullary thyroid gland carcinoma PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9498388|PMID:9506724|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9699127|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9879991|PMID:9950371 12431183 RET ret proto-oncogene gene DOID:4232 extraosseous Ewing sarcoma ISO RGD:735296 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ewing sarcoma of soft tissue PMID:24336963|PMID:24429398|PMID:24755471|PMID:25256751|PMID:25741868|PMID:26467025|PMID:26580448|PMID:28492532|PMID:29263839|PMID:29642553|PMID:30583724|PMID:30680046|PMID:31428572|PMID:31658439|PMID:32099073|PMID:32179705 12431183 RET ret proto-oncogene gene DOID:4851 pilocytic astrocytoma ISO RGD:735296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pilocytic astrocytoma PMID:25741868|PMID:28492532 12431183 RET ret proto-oncogene gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10646792|PMID:12566528|PMID:14566559|PMID:14633923|PMID:15741265|PMID:16441254|PMID:16928683|PMID:20981092|PMID:21655256|PMID:21995290|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22995991|PMID:23084198|PMID:23527089|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:27153395|PMID:27884173|PMID:28492532|PMID:7647787|PMID:7881414|PMID:9727738|PMID:9760196 12431183 RET ret proto-oncogene gene DOID:630 genetic disease ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:30660595|PMID:3078962|PMID:31510104|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 12431183 RET ret proto-oncogene gene DOID:6419 tetralogy of Fallot ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fallot tetralogy PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:30660595|PMID:3078962|PMID:31510104|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 12431183 RET ret proto-oncogene gene DOID:684 hepatocellular carcinoma ISO RGD:735296 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:11230481|PMID:12116277|PMID:14715928|PMID:15184865|PMID:15855933|PMID:16736292|PMID:17047083|PMID:17097365|PMID:18062802|PMID:25157968|PMID:25810047|PMID:26046350|PMID:28492532|PMID:29656518|PMID:7784092|PMID:7845675|PMID:7911697|PMID:9111992|PMID:9242375|PMID:9263528 12431183 RET ret proto-oncogene gene DOID:684 hepatocellular carcinoma severity ISO RGD:735296 D RGD:9068941 20210820 RGD protein:increased expression:liver (human) PMID:28350084|REF_RGD_ID:150340602 12431183 RET ret proto-oncogene gene DOID:8337 appendicitis ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Appendicitis PMID:11230481|PMID:15320968|PMID:16384843|PMID:16849421|PMID:18058472|PMID:18322301|PMID:18936155|PMID:19269918|PMID:19399650|PMID:19522830|PMID:19775624|PMID:19826964|PMID:19906784|PMID:21479187|PMID:21551259|PMID:21986619|PMID:23067224|PMID:24033266|PMID:24728327|PMID:25326637|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26489027|PMID:27379493|PMID:28492532|PMID:28946813|PMID:31937788|PMID:33167350 12431183 RET ret proto-oncogene gene DOID:8584 Burkitt lymphoma ISO RGD:735296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 12431183 RET ret proto-oncogene gene DOID:9000081 Lymphatic Metastasis ISO RGD:735296 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:18652760|REF_RGD_ID:2324925 12431183 RET ret proto-oncogene gene DOID:9000998 Brain Injuries ISO RGD:3556 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:18501516|REF_RGD_ID:2324932 12431183 RET ret proto-oncogene gene DOID:9001581 Constipation ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Constipation PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:30660595|PMID:3078962|PMID:31510104|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 12431183 RET ret proto-oncogene gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:3556 D RGD:9068941 20200609 RGD mRNA:increased expression:hypoglossal XII nerve PMID:10407179|REF_RGD_ID:6218979 12431183 RET ret proto-oncogene gene DOID:9003133 Hypertelorism ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:30660595|PMID:3078962|PMID:31510104|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 12431183 RET ret proto-oncogene gene DOID:9003763 Renal Hypodysplasia/Aplasia 1 ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 1 PMID:10528857|PMID:10646792|PMID:10790203|PMID:10980580|PMID:11230481|PMID:11436122|PMID:11589684|PMID:11732489|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12566528|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15741265|PMID:15753368|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16424056|PMID:16441254|PMID:16649977|PMID:16705552|PMID:16732321|PMID:16849421|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108762|PMID:17483988|PMID:17610518|PMID:18058472|PMID:18252215|PMID:18322301|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19269918|PMID:19399650|PMID:19522830|PMID:19775624|PMID:19826964|PMID:19906784|PMID:20039896|PMID:20080836|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20801952|PMID:20956458|PMID:20981092|PMID:21311890|PMID:21349203|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22395866|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22995991|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23461807|PMID:23527089|PMID:23723040|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24651702|PMID:24728327|PMID:24755471|PMID:24897126|PMID:25256751|PMID:25326637|PMID:25425582|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25985138|PMID:26076779|PMID:26206375|PMID:26332594|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26580448|PMID:26883533|PMID:27077130|PMID:27153395|PMID:27379493|PMID:27600092|PMID:27798940|PMID:27884173|PMID:28492532|PMID:28946813|PMID:29192238|PMID:29263839|PMID:29420094|PMID:29642553|PMID:30217742|PMID:30306255|PMID:30583724|PMID:30680046|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33827484|PMID:34925234|PMID:7581377|PMID:7647787|PMID:7704557|PMID:7881414|PMID:8114938|PMID:9090527|PMID:9506724|PMID:9727738|PMID:9760196 12431183 RET ret proto-oncogene gene DOID:9004001 Facial Nerve Injuries ISO RGD:3556 D RGD:9068941 20200609 RGD mRNA:increased expression:facial VII nucleus PMID:9582449|REF_RGD_ID:6218984 12431183 RET ret proto-oncogene gene DOID:9004286 Hirschsprung Disease 1 ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hirschsprung disease 1 PMID:10369718|PMID:10445857|PMID:10679286|PMID:11230481|PMID:11351254|PMID:15277225|PMID:15320968|PMID:16715139|PMID:16849421|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18322301|PMID:18541894|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19399650|PMID:19522830|PMID:19775624|PMID:19826964|PMID:19906784|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21551259|PMID:21765987|PMID:21810974|PMID:21986619|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23067224|PMID:23660872|PMID:24033266|PMID:24336963|PMID:24728327|PMID:25157968|PMID:25637381|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26332594|PMID:26467025|PMID:26489027|PMID:2660074|PMID:27379493|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:28946813|PMID:30660595|PMID:3078962|PMID:31510104|PMID:33167350|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 12431183 RET ret proto-oncogene gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:10369718|PMID:10445857|PMID:10679286|PMID:11230481|PMID:11351254|PMID:11939755|PMID:12000816|PMID:15277225|PMID:15320968|PMID:16715139|PMID:16849421|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18322301|PMID:18541894|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19399650|PMID:19469690|PMID:19522830|PMID:19775624|PMID:19826964|PMID:19906784|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:20943719|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21551259|PMID:21765987|PMID:21810974|PMID:21986619|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23067224|PMID:23660872|PMID:24033266|PMID:24331334|PMID:24336963|PMID:24728327|PMID:25157968|PMID:25637381|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26332594|PMID:26467025|PMID:26489027|PMID:2660074|PMID:27379493|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:28946813|PMID:30660595|PMID:3078962|PMID:31510104|PMID:33167350|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 12431183 RET ret proto-oncogene gene DOID:9004492 Familial Amyloidosis ISO RGD:735296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12864791 12431183 RET ret proto-oncogene gene DOID:9004547 Thyroid Neoplasms ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:11939755|PMID:12000816|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19469690|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:20943719|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24331334|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:30660595|PMID:3078962|PMID:31510104|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 12431183 RET ret proto-oncogene gene DOID:9005077 Joint Instability ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:30660595|PMID:3078962|PMID:31510104|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 12431183 RET ret proto-oncogene gene DOID:9006195 Medullary Carcinomas ISO RGD:735296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7915165 12431183 RET ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10220148|PMID:10235148|PMID:10445857|PMID:10462620|PMID:10484767|PMID:10490816|PMID:10522989|PMID:10528857|PMID:10612852|PMID:10618407|PMID:10646792|PMID:10777380|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11073534|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11295841|PMID:11389085|PMID:11395220|PMID:11436122|PMID:11454140|PMID:11471675|PMID:11502806|PMID:11562352|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11849247|PMID:11932300|PMID:11939755|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12086152|PMID:12116277|PMID:12150334|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12466368|PMID:12490841|PMID:12566528|PMID:12640453|PMID:12686527|PMID:12694233|PMID:12746565|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14517954|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15386323|PMID:15472167|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15834508|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15933516|PMID:16099853|PMID:16118333|PMID:16227613|PMID:16314641|PMID:16343097|PMID:16391329|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16507829|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16736292|PMID:16767674|PMID:16778204|PMID:16813623|PMID:16817830|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17009072|PMID:17021738|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17372903|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18322301|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19015274|PMID:19062722|PMID:19177457|PMID:19201392|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19443294|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20087666|PMID:20103606|PMID:20119574|PMID:20152359|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20801952|PMID:20943719|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21134561|PMID:21254918|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21520333|PMID:21542403|PMID:21551259|PMID:21606412|PMID:21626080|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22274720|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23407919|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23527089|PMID:23617071|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24064755|PMID:24134185|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24449023|PMID:24449676|PMID:24561444|PMID:24569963|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698 12431183 RET ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25157968|PMID:25256751|PMID:25319874|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26845104|PMID:26876062|PMID:26920351|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27798940|PMID:27809725|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28166811|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29133048|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29549836|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31431315|PMID:31510104|PMID:31614935|PMID:32283892|PMID:33167350|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8797874|PMID:8807338|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9824583|PMID:9839497|PMID:9879991|PMID:9950371 12431183 RET ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10220148|PMID:10235148|PMID:10445857|PMID:10462620|PMID:10465268|PMID:10484767|PMID:10490816|PMID:10522989|PMID:10528857|PMID:10612852|PMID:10618407|PMID:10646792|PMID:10777380|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11073534|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11295841|PMID:11313948|PMID:11389085|PMID:11390647|PMID:11395220|PMID:11436122|PMID:11454140|PMID:11471675|PMID:11502806|PMID:11562352|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11849247|PMID:11932300|PMID:11939755|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12086152|PMID:12116277|PMID:12150334|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12466368|PMID:12490841|PMID:12566528|PMID:12640453|PMID:12686527|PMID:12694233|PMID:12746565|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14517954|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15386323|PMID:15472167|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15834508|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15933516|PMID:16099853|PMID:16118333|PMID:16227613|PMID:16314641|PMID:16343097|PMID:16391329|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16507829|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16736292|PMID:16767674|PMID:16778204|PMID:16813623|PMID:16817830|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17009072|PMID:17021738|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17372903|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18322301|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19015274|PMID:19062722|PMID:19177457|PMID:19201392|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20087666|PMID:20103606|PMID:20119574|PMID:20152359|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20801952|PMID:20943719|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21134561|PMID:21254918|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21542403|PMID:21551259|PMID:21606412|PMID:21626080|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21711375|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22270996|PMID:22274720|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23407919|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23527089|PMID:23617071|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24064755|PMID:24134185|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24449023|PMID:24449676|PMID:24561444|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698 12431183 RET ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25157968|PMID:25256751|PMID:25319874|PMID:25326637|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26845104|PMID:26876062|PMID:26920351|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27798940|PMID:27809725|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28166811|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29133048|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29549836|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:32179705|PMID:32283892|PMID:32430905|PMID:33167350|PMID:33433679|PMID:33827484|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8797874|PMID:8807338|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9824583|PMID:9839497|PMID:9879991|PMID:9950371 12431183 RET ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23407919|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24064755|PMID:24134185|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24449023|PMID:24449676|PMID:24561444|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25157968|PMID:25256751|PMID:25319874|PMID:25326637|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26845104|PMID:26876062|PMID:26920351|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27798940|PMID:27807060|PMID:27809725|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28166811|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29097883|PMID:29133048|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29338689|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29549836|PMID:29590403|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30446652|PMID:30624503|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:32091409|PMID:32099073|PMID:32179705|PMID:32283892|PMID:32375120|PMID:32430905|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33433679|PMID:33827484|PMID:33981013|PMID:34771502|PMID:35535697|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9879991|PMID:9950371 12431183 RET ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10465268|PMID:10484767|PMID:10490816|PMID:10522989|PMID:10528857|PMID:10612852|PMID:10618407|PMID:10646792|PMID:10679286|PMID:10777380|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10946353|PMID:10980580|PMID:10982477|PMID:11061555|PMID:11073534|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11295841|PMID:11313948|PMID:11331212|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11390647|PMID:11395220|PMID:11436122|PMID:11454140|PMID:11471675|PMID:11502806|PMID:11524247|PMID:11562352|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11692159|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11932300|PMID:11935126|PMID:11939755|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12050290|PMID:12072055|PMID:12086152|PMID:12116277|PMID:12150334|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12466368|PMID:12490841|PMID:12566528|PMID:12604374|PMID:12640453|PMID:12686527|PMID:12694233|PMID:12734540|PMID:12746565|PMID:12788868|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14517954|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15240641|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15345114|PMID:15386323|PMID:15472167|PMID:15531548|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15834508|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16099853|PMID:16118333|PMID:16227613|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16325365|PMID:16343097|PMID:16343103|PMID:16391329|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16507829|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16736292|PMID:16767674|PMID:16778204|PMID:16813623|PMID:16817830|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17009072|PMID:17021738|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17372903|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18322301|PMID:18541894|PMID:18551016|PMID:18772120|PMID:18805915|PMID:18936155|PMID:18976013|PMID:18984779|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19177457|PMID:19201392|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19443294|PMID:19469690|PMID:19472011|PMID:19475497|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20087666|PMID:20103606|PMID:20119574|PMID:20152359|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20664475|PMID:20739875|PMID:20801952|PMID:20833330|PMID:20847059|PMID:20943719|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21253810|PMID:21254918|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422799|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21475823|PMID:21479187|PMID:21490379|PMID:21542403|PMID:21551259|PMID:21606412|PMID:21626080|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21706185|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21934104|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22131258|PMID:22136840|PMID:22174939 12431183 RET ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22199277|PMID:22233172|PMID:22270996|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584703|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22648435|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22734615|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23400839|PMID:23407919|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24449023|PMID:24449676|PMID:24560924|PMID:24561444|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25143909|PMID:25157968|PMID:25256751|PMID:25319874|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25767701|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26845104|PMID:26876062|PMID:26920351|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27400880|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27704398|PMID:27798940|PMID:27807060|PMID:27809725|PMID:27838608|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28166811|PMID:28202063|PMID:28276298|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28799054|PMID:28873162|PMID:28943896|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29077903|PMID:29097883|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29312610|PMID:29338689|PMID:29378779|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29515777|PMID:29549836|PMID:29590403|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30172768|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30446652|PMID:30550378|PMID:30618340|PMID:30624503|PMID:30660595|PMID:30666164|PMID:30734711|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31300450|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:31666091|PMID:31892348|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32430905|PMID:32732076|PMID:32761341|PMID:32823925|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33433679|PMID:33532864|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34646395|PMID:34771502|PMID:35535697|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8855832|PMID:8896569|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383 12431183 RET ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:9067749|PMID:9068588|PMID:9075701|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9868860|PMID:9879991|PMID:9950371 12431183 RET ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21934104|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22131258|PMID:22136840|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584703|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22648435|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22734615|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23400839|PMID:23407919|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24449676|PMID:24560924|PMID:24561444|PMID:24569963|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25143909|PMID:25157968|PMID:25244518|PMID:25256751|PMID:25319874|PMID:25349307|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25569433|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25767701|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26254625|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26758973|PMID:26845104|PMID:26876062|PMID:26883533|PMID:26920351|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27349013|PMID:27379493|PMID:27400880|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27704398|PMID:27798940|PMID:27807060|PMID:27809725|PMID:27838608|PMID:27847096|PMID:27854218|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28137737|PMID:28202063|PMID:28276298|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28799054|PMID:28873162|PMID:28943896|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29077903|PMID:29097883|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29312610|PMID:29338689|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29515777|PMID:29549836|PMID:29590403|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30172768|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30446652|PMID:30550378|PMID:30583724|PMID:30618340|PMID:30624503|PMID:30660595|PMID:30666164|PMID:30680046|PMID:30734711|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31300450|PMID:31428572|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:31658439|PMID:31666091|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32430905|PMID:32732076|PMID:32761341|PMID:32823925|PMID:32923848|PMID:32989896|PMID:33084974|PMID:33167350|PMID:33340421|PMID:33433679|PMID:33450337|PMID:33532864|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34646395|PMID:34771502|PMID:34925234|PMID:35535697|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787 12431183 RET ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:7704557|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8852653|PMID:8855832|PMID:8896569|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9075701|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9294615|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9745455|PMID:9760196|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9868860|PMID:9879991|PMID:9950371 12431183 RET ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10465268|PMID:10484767|PMID:10490816|PMID:10522989|PMID:10528857|PMID:10549772|PMID:10612852|PMID:10618407|PMID:10646792|PMID:10679286|PMID:10777380|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10946353|PMID:10980580|PMID:10982477|PMID:11061555|PMID:11073534|PMID:11114642|PMID:11149622|PMID:11230481|PMID:11238493|PMID:11295841|PMID:11313948|PMID:11331212|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11390647|PMID:11395220|PMID:11436122|PMID:11454140|PMID:11471675|PMID:11502806|PMID:11524247|PMID:11562352|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11692159|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11932300|PMID:11935126|PMID:11939755|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12050290|PMID:12072055|PMID:12086152|PMID:12116277|PMID:12150334|PMID:12193298|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12466368|PMID:12490841|PMID:12566528|PMID:12604374|PMID:12640453|PMID:12686527|PMID:12694233|PMID:12734540|PMID:12746565|PMID:12788868|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14517954|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15240641|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15345114|PMID:15386323|PMID:15472167|PMID:15523405|PMID:15531548|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15834508|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:15991157|PMID:16053382|PMID:16099853|PMID:16118333|PMID:16227613|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16325365|PMID:16343097|PMID:16343103|PMID:16391329|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16507829|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16736292|PMID:16767674|PMID:16778204|PMID:16813623|PMID:16817830|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17009072|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17372903|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18299477|PMID:18322301|PMID:18541894|PMID:18551016|PMID:18772120|PMID:18805915|PMID:18936155|PMID:18976013|PMID:18984779|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19177457|PMID:19201392|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19443294|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19475497|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20087666|PMID:20103606|PMID:20119574|PMID:20142552|PMID:20152359|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20494215|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20664475|PMID:20719260|PMID:20739875|PMID:20801952|PMID:20833330|PMID:20847059|PMID:20943719|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21186952|PMID:21253810|PMID:21254918|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422799|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21475823|PMID:21479187|PMID:21490379|PMID:21542403|PMID:21551259|PMID:21606412|PMID:21626080|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267 12431183 RET ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21706185|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21934104|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22131258|PMID:22136840|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584703|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22648435|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22734615|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23400839|PMID:23407919|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24449676|PMID:24560924|PMID:24561444|PMID:24569963|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25143909|PMID:25157968|PMID:25244518|PMID:25256751|PMID:25319874|PMID:25326637|PMID:25349307|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25569433|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25767701|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26254625|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26758973|PMID:26845104|PMID:26876062|PMID:26883533|PMID:26920351|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27349013|PMID:27379493|PMID:27400880|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27704398|PMID:27798940|PMID:27807060|PMID:27809725|PMID:27838608|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28137737|PMID:28202063|PMID:28276298|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28799054|PMID:28873162|PMID:28943896|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29077903|PMID:29097883|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29312610|PMID:29338689|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29515777|PMID:29549836|PMID:29590403|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30172768|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30446652|PMID:30550378|PMID:30583724|PMID:30618340|PMID:30624503|PMID:30660595|PMID:30666164|PMID:30680046|PMID:30734711|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31300450|PMID:31428572|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:31658439|PMID:31666091|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32430905|PMID:32732076|PMID:32761341|PMID:32823925|PMID:32923848|PMID:32989896|PMID:33084974|PMID:33167350|PMID:33340421|PMID:33433679|PMID:33450337|PMID:33532864|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34646395|PMID:34771502|PMID:34925234|PMID:35535697|PMID:36251279|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256 12431183 RET ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:7633441|PMID:7647787|PMID:7704557|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8852653|PMID:8855832|PMID:8896569|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9075701|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9294615|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9745455|PMID:9760196|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9868860|PMID:9879991|PMID:9950371 12431183 RET ret proto-oncogene gene DOID:9007661 Dwarfism ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Short stature PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:30660595|PMID:3078962|PMID:31510104|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 12431183 RET ret proto-oncogene gene DOID:9008443 Colorectal Neoplasms ISO RGD:735296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 12431183 RET ret proto-oncogene gene DOID:9008681 Deafness ISO RGD:3556 D RGD:9068941 20200609 RGD mRNA:increased expression:vestibulocochlear VIII nerve cochlear component PMID:16738479|REF_RGD_ID:2324943 12431183 RET ret proto-oncogene gene DOID:9008952 Breast Cancer, Familial ISO RGD:735296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:12000816|PMID:12566528|PMID:15531714|PMID:15753368|PMID:15870131|PMID:16118333|PMID:16705552|PMID:17021738|PMID:17483988|PMID:17610518|PMID:19826964|PMID:19906784|PMID:20080836|PMID:21311890|PMID:21810974|PMID:22584710|PMID:22703879|PMID:23723040|PMID:24033266|PMID:24375508|PMID:25425582|PMID:25637381|PMID:25741868|PMID:27153395|PMID:28492532|PMID:31510104|PMID:9090527|PMID:9506724 12431183 RET ret proto-oncogene gene DOID:9256 colorectal cancer ISO RGD:735296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 12431226 CSNK1D casein kinase 1 delta gene DOID:0110011 advanced sleep phase syndrome 1 ISO RGD:733311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12431226 CSNK1D casein kinase 1 delta gene DOID:0110012 advanced sleep phase syndrome 2 ISO RGD:733311 D RGD:7240710 20180130 OMIM 12431226 CSNK1D casein kinase 1 delta gene DOID:0110012 advanced sleep phase syndrome 2 ISO RGD:733311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Advanced sleep phase syndrome 2 PMID:15800623|PMID:23636092 12431226 CSNK1D casein kinase 1 delta gene DOID:10652 Alzheimer's disease ISO RGD:733311 D RGD:9068941 20200609 RGD protein:increased expression:CA1 field of hippocampus: PMID:10514399|REF_RGD_ID:10395229 12431226 CSNK1D casein kinase 1 delta gene DOID:10652 Alzheimer's disease severity ISO RGD:733311 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain: PMID:10814741|REF_RGD_ID:10395230 12431226 CSNK1D casein kinase 1 delta gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:735980 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 12431256 FOXO1 forkhead box O1 gene DOID:0080147 lymphoblastic lymphoma ISO RGD:737156 D RGD:9068941 20221027 RGD PMID:17254969|REF_RGD_ID:155630604 12431256 FOXO1 forkhead box O1 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:620283 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:30186875|REF_RGD_ID:14401598 12431256 FOXO1 forkhead box O1 gene DOID:10126 keratoconus ISO RGD:737155 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291589 12431256 FOXO1 forkhead box O1 gene DOID:10283 prostate cancer disease_progression ISO RGD:737155 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:lower in high versus low Gleason score tumors, also lower in tumor vs adjacent normal tissue (p<0.05 compared to at least one housekeeping gene) PMID:18336616|REF_RGD_ID:2301729 12431256 FOXO1 forkhead box O1 gene DOID:255 hemangioma ISO RGD:737156 D RGD:9068941 20221027 RGD PMID:17254969|REF_RGD_ID:155630604 12431256 FOXO1 forkhead box O1 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:737155 D RGD:7240710 20190315 OMIM 12431256 FOXO1 forkhead box O1 gene DOID:6000 congestive heart failure ISO RGD:737155 D RGD:9068941 20200609 RGD PMID:16952980|REF_RGD_ID:1582564 12431256 FOXO1 forkhead box O1 gene DOID:630 genetic disease ISO RGD:737155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431256 FOXO1 forkhead box O1 gene DOID:6432 pulmonary hypertension ISO RGD:737155 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27663689 12431256 FOXO1 forkhead box O1 gene DOID:684 hepatocellular carcinoma ISO RGD:737155 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:28972178|REF_RGD_ID:14401599 12431256 FOXO1 forkhead box O1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:620283 D RGD:9068941 20220520 RGD associated with Schistosomiasis Japonica; mRNA:decreased expression:liver (rat) PMID:29323718|REF_RGD_ID:38599216 12431256 FOXO1 forkhead box O1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737155 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 12431256 FOXO1 forkhead box O1 gene DOID:9002644 Premature Aging ISO RGD:737156 D RGD:9068941 20200609 RGD PMID:23673876|REF_RGD_ID:10045361 12431256 FOXO1 forkhead box O1 gene DOID:9007692 Insulin Resistance ISO RGD:620283 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue: PMID:16041833|REF_RGD_ID:1599150 12431256 FOXO1 forkhead box O1 gene DOID:9119 acute myeloid leukemia ISO RGD:737155 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12431256 FOXO1 forkhead box O1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737156 D RGD:9068941 20200609 RGD protein:altered localization:nucleus, islet cell: PMID:22417654|REF_RGD_ID:10044264 12431256 FOXO1 forkhead box O1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:737156 D RGD:9068941 20200609 RGD PMID:20736318|REF_RGD_ID:10044265 12431256 FOXO1 forkhead box O1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737156 D RGD:9068941 20200609 RGD protein:altered localization:nucleus,liver cell: PMID:15546000|REF_RGD_ID:10045358 12431262 RFC3 replication factor C subunit 3 gene DOID:630 genetic disease ISO RGD:1315670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431281 OGFOD1 2-oxoglutarate and iron dependent oxygenase domain containing 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605373 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12431281 OGFOD1 2-oxoglutarate and iron dependent oxygenase domain containing 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605373 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12431281 OGFOD1 2-oxoglutarate and iron dependent oxygenase domain containing 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 12431281 OGFOD1 2-oxoglutarate and iron dependent oxygenase domain containing 1 gene DOID:630 genetic disease ISO RGD:1605373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431298 NFKBIZ NFKB inhibitor zeta gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1553089 D RGD:9068941 20220825 MouseDO 12431298 NFKBIZ NFKB inhibitor zeta gene DOID:3310 atopic dermatitis ISO RGD:1553089 D RGD:9068941 20220825 MouseDO OMIM:603165 12431298 NFKBIZ NFKB inhibitor zeta gene DOID:630 genetic disease ISO RGD:1350232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431298 NFKBIZ NFKB inhibitor zeta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12431311 PECR peroxisomal trans-2-enoyl-CoA reductase gene DOID:1059 intellectual disability ISO RGD:1603637 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12431311 PECR peroxisomal trans-2-enoyl-CoA reductase gene DOID:630 genetic disease ISO RGD:1603637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431311 PECR peroxisomal trans-2-enoyl-CoA reductase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12431328 ARHGAP39 Rho GTPase activating protein 39 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1606778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:12952869|PMID:28492532 12431328 ARHGAP39 Rho GTPase activating protein 39 gene DOID:630 genetic disease ISO RGD:1606778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431343 SZT2 SZT2 subunit of KICSTOR complex gene DOID:0080413 developmental and epileptic encephalopathy 18 ISO RGD:1603692 D RGD:7240710 20180130 OMIM 12431343 SZT2 SZT2 subunit of KICSTOR complex gene DOID:0080413 developmental and epileptic encephalopathy 18 ISO RGD:1603692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 18 PMID:16199547|PMID:17576681|PMID:23932106|PMID:25741868|PMID:26467025|PMID:27248490|PMID:28492532|PMID:28556953|PMID:29358611|PMID:30359774|PMID:30560016|PMID:30564332|PMID:30755392|PMID:30818181|PMID:32402703|PMID:35773235|PMID:9536098 12431343 SZT2 SZT2 subunit of KICSTOR complex gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1603692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868|PMID:28492532 12431343 SZT2 SZT2 subunit of KICSTOR complex gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12431343 SZT2 SZT2 subunit of KICSTOR complex gene DOID:1059 intellectual disability ISO RGD:1603692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 12431343 SZT2 SZT2 subunit of KICSTOR complex gene DOID:11383 cryptorchidism ISO RGD:1603692 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cryptorchidism PMID:25741868|PMID:28492532|PMID:30564332|PMID:30755392|PMID:35773235 12431343 SZT2 SZT2 subunit of KICSTOR complex gene DOID:11832 visual epilepsy ISO RGD:1603692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:17576681|PMID:25741868|PMID:26467025|PMID:28491533|PMID:28492532|PMID:28556953|PMID:29358611|PMID:9536098 12431343 SZT2 SZT2 subunit of KICSTOR complex gene DOID:1826 epilepsy ISO RGD:1603692 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:17576681|PMID:25741868|PMID:26467025|PMID:28491533|PMID:28492532|PMID:28556953|PMID:29358611|PMID:9536098 12431343 SZT2 SZT2 subunit of KICSTOR complex gene DOID:1826 epilepsy ISO RGD:1603692 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12431343 SZT2 SZT2 subunit of KICSTOR complex gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1603692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611 12431343 SZT2 SZT2 subunit of KICSTOR complex gene DOID:630 genetic disease ISO RGD:1603692 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23932106|PMID:25741868|PMID:26467025|PMID:27248490|PMID:28491533|PMID:28492532|PMID:28556953|PMID:29358611|PMID:30564332|PMID:9536098 12431343 SZT2 SZT2 subunit of KICSTOR complex gene DOID:9000983 Encephalocele ISO RGD:1603692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalocele PMID:23932106|PMID:25741868|PMID:28492532|PMID:31680349 12431343 SZT2 SZT2 subunit of KICSTOR complex gene DOID:9970 obesity ISO RGD:1603692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 12431430 SNX32 sorting nexin 32 gene DOID:0080600 COVID-19 ISO RGD:1605258 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12431430 SNX32 sorting nexin 32 gene DOID:1059 intellectual disability ISO RGD:1605258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12431430 SNX32 sorting nexin 32 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12431430 SNX32 sorting nexin 32 gene DOID:2746 glycogen storage disease V ISO RGD:1605258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 12431430 SNX32 sorting nexin 32 gene DOID:630 genetic disease ISO RGD:1605258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431430 SNX32 sorting nexin 32 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1605258 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 12431430 SNX32 sorting nexin 32 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1605258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 12431430 SNX32 sorting nexin 32 gene DOID:9008939 Breast Neoplasms ISO RGD:1605258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 12431456 FCHSD2 FCH and double SH3 domains 2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1312475 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 12431456 FCHSD2 FCH and double SH3 domains 2 gene DOID:1059 intellectual disability ISO RGD:1312475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12431456 FCHSD2 FCH and double SH3 domains 2 gene DOID:630 genetic disease ISO RGD:1312475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431456 FCHSD2 FCH and double SH3 domains 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1312475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 12431485 PEX2 peroxisomal biogenesis factor 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1349650 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE PMID:10528859|PMID:10652207|PMID:14630978|PMID:1546315|PMID:15542397|PMID:17041890|PMID:21031596|PMID:21465523|PMID:23430938|PMID:23590336|PMID:23829372|PMID:25333069|PMID:25741868|PMID:28089346|PMID:28492532|PMID:7541833|PMID:7681622|PMID:9452066|PMID:9585609 12431485 PEX2 peroxisomal biogenesis factor 2 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1349650 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10528859|PMID:1546315 12431485 PEX2 peroxisomal biogenesis factor 2 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1349650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:25741868|PMID:28492532 12431485 PEX2 peroxisomal biogenesis factor 2 gene DOID:0080480 peroxisome biogenesis disorder 5A ISO RGD:1349650 D RGD:7240710 20180130 OMIM 12431485 PEX2 peroxisomal biogenesis factor 2 gene DOID:0080480 peroxisome biogenesis disorder 5A ISO RGD:1349650 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 5A (Zellweger) PMID:10528859|PMID:10652207|PMID:14630978|PMID:1546315|PMID:15542397|PMID:17041890|PMID:21031596|PMID:21465523|PMID:23430938|PMID:23590336|PMID:23829372|PMID:25333069|PMID:25741868|PMID:28089346|PMID:28492532|PMID:32860008|PMID:7541833|PMID:7681622|PMID:9452066|PMID:9585609 12431485 PEX2 peroxisomal biogenesis factor 2 gene DOID:630 genetic disease ISO RGD:1349650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12431485 PEX2 peroxisomal biogenesis factor 2 gene DOID:9006420 Zellweger Leukodystrophy ISO RGD:1349650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:25741868|PMID:28492532 12431485 PEX2 peroxisomal biogenesis factor 2 gene DOID:9008800 Peroxisome Biogenesis Disorder 5B ISO RGD:1349650 D RGD:7240710 20180130 OMIM 12431485 PEX2 peroxisomal biogenesis factor 2 gene DOID:9008800 Peroxisome Biogenesis Disorder 5B ISO RGD:1349650 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 5B PMID:10528859|PMID:10652207|PMID:14630978|PMID:1546315|PMID:15542397|PMID:17041890|PMID:21031596|PMID:21392394|PMID:21465523|PMID:23430938|PMID:23590336|PMID:23829372|PMID:25333069|PMID:25741868|PMID:28089346|PMID:28492532|PMID:7541833|PMID:7681622|PMID:7931872|PMID:9452066|PMID:9585609 12431485 PEX2 peroxisomal biogenesis factor 2 gene DOID:905 Zellweger syndrome ISO RGD:1349650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10528859|PMID:10652207|PMID:14630978|PMID:1546315|PMID:15542397|PMID:17041890|PMID:21031596|PMID:21465523|PMID:23430938|PMID:23590336|PMID:23829372|PMID:25741868|PMID:28089346|PMID:28492532|PMID:7541833|PMID:7681622|PMID:9452066|PMID:9585609 12431485 PEX2 peroxisomal biogenesis factor 2 gene DOID:905 Zellweger syndrome ISO RGD:1349650 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10528859|PMID:10652207|PMID:14630978|PMID:1546315|PMID:15542397|PMID:17041890|PMID:21031596|PMID:21465523|PMID:23430938|PMID:23590336|PMID:23829372|PMID:25333069|PMID:25741868|PMID:28089346|PMID:28492532|PMID:7541833|PMID:7681622|PMID:9452066|PMID:9585609 12431491 RAD54B RAD54 homolog B gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1604371 D RGD:7240710 20180130 OMIM 12431491 RAD54B RAD54 homolog B gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1604371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:10362364|PMID:28492532 12431491 RAD54B RAD54 homolog B gene DOID:1520 colon carcinoma ISO RGD:1604371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:10362364 12431491 RAD54B RAD54 homolog B gene DOID:630 genetic disease ISO RGD:1604371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431491 RAD54B RAD54 homolog B gene DOID:9008443 Colorectal Neoplasms ISO RGD:1604371 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 12431491 RAD54B RAD54 homolog B gene DOID:9256 colorectal cancer ISO RGD:1604371 D RGD:7240710 20200226 OMIM 12431513 ARHGAP12 Rho GTPase activating protein 12 gene DOID:0080600 COVID-19 ISO RGD:1320676 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12431513 ARHGAP12 Rho GTPase activating protein 12 gene DOID:630 genetic disease ISO RGD:1320676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431556 IGDCC4 immunoglobulin superfamily DCC subclass member 4 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1602692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 12431556 IGDCC4 immunoglobulin superfamily DCC subclass member 4 gene DOID:2717 Bloom syndrome ISO RGD:1602692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12431556 IGDCC4 immunoglobulin superfamily DCC subclass member 4 gene DOID:630 genetic disease ISO RGD:1602692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431556 IGDCC4 immunoglobulin superfamily DCC subclass member 4 gene DOID:9256 colorectal cancer ISO RGD:1602692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12431580 ST3GAL2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1348054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12431580 ST3GAL2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1348054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12431580 ST3GAL2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 gene DOID:0070262 congenital disorder of glycosylation type IIj ISO RGD:1348054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COG4-CDG PMID:19494034 12431580 ST3GAL2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 gene DOID:630 genetic disease ISO RGD:1348054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431590 GBP6 guanylate binding protein family member 6 gene DOID:630 genetic disease ISO RGD:1354251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431605 SLC14A2 solute carrier family 14 member 2 gene DOID:0060356 Vici syndrome ISO RGD:731952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 12431605 SLC14A2 solute carrier family 14 member 2 gene DOID:1059 intellectual disability ISO RGD:731952 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12431605 SLC14A2 solute carrier family 14 member 2 gene DOID:630 genetic disease ISO RGD:731952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431605 SLC14A2 solute carrier family 14 member 2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:731952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 12431620 PRRX2 paired related homeobox 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1322947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12431620 PRRX2 paired related homeobox 2 gene DOID:630 genetic disease ISO RGD:1322947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431627 TBC1D8B TBC1 domain family member 8B gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1606538 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 12431627 TBC1D8B TBC1 domain family member 8B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12431627 TBC1D8B TBC1 domain family member 8B gene DOID:0070357 nephrotic syndrome type 20 ISO RGD:1606538 D RGD:7240710 20190731 OMIM 12431627 TBC1D8B TBC1 domain family member 8B gene DOID:0070357 nephrotic syndrome type 20 ISO RGD:1606538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 20 PMID:25741868|PMID:28492532|PMID:30661770|PMID:31732614 12431627 TBC1D8B TBC1 domain family member 8B gene DOID:1184 nephrotic syndrome ISO RGD:1606538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:31732614 12431627 TBC1D8B TBC1 domain family member 8B gene DOID:12849 autistic disorder ISO RGD:1606538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12431627 TBC1D8B TBC1 domain family member 8B gene DOID:630 genetic disease ISO RGD:1606538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12431654 RHO rhodopsin gene DOID:0050534 congenital stationary night blindness ISO RGD:731395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant PMID:28492532 12431654 RHO rhodopsin gene DOID:0050572 cone-rod dystrophy ISO RGD:731395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:11139241|PMID:12871954|PMID:17488458|PMID:19913029|PMID:21094163|PMID:21219898|PMID:25741868|PMID:28492532|PMID:29847639|PMID:30240733|PMID:30718709|PMID:7981701|PMID:8088850|PMID:9380676 12431654 RHO rhodopsin gene DOID:0050578 occult macular dystrophy ISO RGD:731395 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Occult macular dystrophy PMID:1882937|PMID:20591486|PMID:2215617|PMID:25265376|PMID:25741868|PMID:28492532|PMID:30977563|PMID:8486634 12431654 RHO rhodopsin gene DOID:0050817 Stargardt disease ISO RGD:731395 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: STGD PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12431654 RHO rhodopsin gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:731395 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cone dystrophy 3 PMID:17936999|PMID:23484092|PMID:25741868|PMID:28492532|PMID:30977563 12431654 RHO rhodopsin gene DOID:0080803 cranioectodermal dysplasia 1 ISO RGD:731395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 PMID:28492532 12431654 RHO rhodopsin gene DOID:0110372 retinitis pigmentosa 4 ISO RGD:731395 D RGD:7240710 20180130 OMIM 12431654 RHO rhodopsin gene DOID:0110372 retinitis pigmentosa 4 ISO RGD:731395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 4 | ClinVar Annotator: match by term: Retinitis pigmentosa 4, autosomal recessive PMID:10874327|PMID:10967073|PMID:10980774|PMID:11094174|PMID:11139241|PMID:11141431|PMID:11879142|PMID:11910130|PMID:12091393|PMID:12660238|PMID:12871954|PMID:12966518|PMID:1301135|PMID:1302614|PMID:1303237|PMID:1356370|PMID:1418997|PMID:14769795|PMID:1484692|PMID:15126168|PMID:15145060|PMID:15232620|PMID:15509574|PMID:1580841|PMID:16170112|PMID:16737970|PMID:16767206|PMID:17014888|PMID:17488458|PMID:17576681|PMID:1765377|PMID:1783387|PMID:1808803|PMID:18175313|PMID:1833777|PMID:1840561|PMID:1862076|PMID:1882937|PMID:1897520|PMID:19085385|PMID:1924344|PMID:1929926|PMID:1985460|PMID:1987955|PMID:1987956|PMID:19913029|PMID:19933196|PMID:19958124|PMID:19960070|PMID:20164459|PMID:20525296|PMID:20532191|PMID:20555336|PMID:20805032|PMID:20832389|PMID:21077204|PMID:21094163|PMID:21174529|PMID:21217109|PMID:21219898|PMID:21352497|PMID:21357407|PMID:2137202|PMID:21677794|PMID:21922596|PMID:22110080|PMID:2215617|PMID:22252712|PMID:22321012|PMID:22323724|PMID:22334370|PMID:2239971|PMID:22791210|PMID:22956602|PMID:22968130|PMID:23221340|PMID:23288993|PMID:2333895|PMID:23484092|PMID:23591405|PMID:23625926|PMID:24265693|PMID:24520188|PMID:24853414|PMID:24935155|PMID:24938718|PMID:25096327|PMID:25097241|PMID:25101269|PMID:25221422|PMID:25356976|PMID:25359768|PMID:25366773|PMID:25408095|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25999674|PMID:2613244|PMID:26202387|PMID:26887858|PMID:26962691|PMID:27624628|PMID:27694816|PMID:28041643|PMID:28076437|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28981474|PMID:29068140|PMID:29099798|PMID:29453956|PMID:29463953|PMID:29847639|PMID:29890221|PMID:30029497|PMID:30240733|PMID:30538586|PMID:30718709|PMID:30972525|PMID:30977563|PMID:31087526|PMID:31100078|PMID:31213501|PMID:31319082|PMID:31456290|PMID:31877679|PMID:31908405|PMID:32013026|PMID:32037395|PMID:32531858|PMID:33247286|PMID:33576794|PMID:7523628|PMID:7724183|PMID:7981701|PMID:7987326|PMID:7987331|PMID:7987385|PMID:8045708|PMID:8081400|PMID:8088850|PMID:8240107|PMID:8253795|PMID:8317502|PMID:8328469|PMID:8353500|PMID:8401533|PMID:8406457|PMID:8554077|PMID:8841304|PMID:8905849|PMID:8943080|PMID:9197578|PMID:9380676|PMID:9452035|PMID:9483582|PMID:9536098|PMID:9724753|PMID:9810568 12431654 RHO rhodopsin gene DOID:0110862 congenital stationary night blindness autosomal dominant 1 ISO RGD:731395 D RGD:7240710 20180130 OMIM 12431654 RHO rhodopsin gene DOID:0110862 congenital stationary night blindness autosomal dominant 1 ISO RGD:731395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 1 PMID:10521250|PMID:10967073|PMID:11139241|PMID:11879142|PMID:12091393|PMID:12860986|PMID:12871954|PMID:1418997|PMID:14769795|PMID:14971589|PMID:15126168|PMID:15509574|PMID:16123440|PMID:16767206|PMID:17488458|PMID:18175313|PMID:18987202|PMID:1987955|PMID:1987956|PMID:19913029|PMID:19933196|PMID:20591486|PMID:20805032|PMID:21094163|PMID:21217109|PMID:21219898|PMID:2137202|PMID:22110080|PMID:22164218|PMID:22321012|PMID:22323724|PMID:2239971|PMID:22995991|PMID:24760071|PMID:24853414|PMID:2509724|PMID:25097241|PMID:25741868|PMID:25999674|PMID:26202387|PMID:26962691|PMID:27458239|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29847639|PMID:30240733|PMID:30718709|PMID:30977563|PMID:31054281|PMID:31319082|PMID:33347869|PMID:33669941|PMID:7846071|PMID:7981701|PMID:8081400|PMID:8088850|PMID:8107847|PMID:8317502|PMID:8358437|PMID:9050844|PMID:9380676|PMID:9618546|PMID:9810568|PMID:9888392 12431654 RHO rhodopsin gene DOID:0111947 immunodeficiency 21 ISO RGD:731395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 12431654 RHO rhodopsin gene DOID:10584 retinitis pigmentosa ISO RGD:731395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10521250|PMID:10967073|PMID:11094174|PMID:11139241|PMID:11141431|PMID:12660238|PMID:12860986|PMID:12871954|PMID:12966518|PMID:1301135|PMID:1303237|PMID:1484692|PMID:14971589|PMID:1580841|PMID:16123440|PMID:16767206|PMID:17014888|PMID:17488458|PMID:17576681|PMID:1765377|PMID:1783387|PMID:18175313|PMID:1833777|PMID:1840561|PMID:1862076|PMID:1882937|PMID:1897520|PMID:1924344|PMID:19913029|PMID:20164459|PMID:20525296|PMID:20555336|PMID:20591486|PMID:21077204|PMID:21094163|PMID:21174529|PMID:21217109|PMID:21219898|PMID:21352497|PMID:21357407|PMID:21922596|PMID:2215617|PMID:22164218|PMID:22995991|PMID:23591405|PMID:24265693|PMID:24520188|PMID:24760071|PMID:24935155|PMID:24938718|PMID:2509724|PMID:25097241|PMID:25101269|PMID:25221422|PMID:25408095|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26962691|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28524165|PMID:28559085|PMID:28981474|PMID:29068140|PMID:29099798|PMID:29847639|PMID:29890221|PMID:30240733|PMID:30718709|PMID:30977563|PMID:31100078|PMID:31908405|PMID:33576794|PMID:7724183|PMID:7981701|PMID:7987326|PMID:7987331|PMID:8045708|PMID:8088850|PMID:8240107|PMID:8253795|PMID:8317502|PMID:8328469|PMID:8353500|PMID:8401533|PMID:8406457|PMID:8554077|PMID:8841304|PMID:8905849|PMID:9050844|PMID:9197578|PMID:9380676|PMID:9483582|PMID:9536098|PMID:9618546 12431654 RHO rhodopsin gene DOID:10584 retinitis pigmentosa ISO RGD:731395 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10521250|PMID:10967073|PMID:11094174|PMID:11139241|PMID:12660238|PMID:12860986|PMID:12871954|PMID:12966518|PMID:1301135|PMID:1303237|PMID:1484692|PMID:14971589|PMID:1580841|PMID:16123440|PMID:16767206|PMID:17488458|PMID:17576681|PMID:1783387|PMID:18175313|PMID:1833777|PMID:1840561|PMID:1862076|PMID:1882937|PMID:1897520|PMID:1924344|PMID:19913029|PMID:20164459|PMID:20525296|PMID:20555336|PMID:20591486|PMID:21077204|PMID:21094163|PMID:21174529|PMID:21217109|PMID:21219898|PMID:21352497|PMID:21357407|PMID:21922596|PMID:2215617|PMID:22164218|PMID:22995991|PMID:24265693|PMID:24520188|PMID:24760071|PMID:24935155|PMID:2509724|PMID:25097241|PMID:25101269|PMID:25221422|PMID:25525159|PMID:25741868|PMID:25999674|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28981474|PMID:29068140|PMID:29099798|PMID:29847639|PMID:30240733|PMID:30718709|PMID:30977563|PMID:31100078|PMID:33576794|PMID:7981701|PMID:7987326|PMID:8088850|PMID:8240107|PMID:8253795|PMID:8317502|PMID:8328469|PMID:8353500|PMID:8401533|PMID:8554077|PMID:8841304|PMID:8905849|PMID:9050844|PMID:9197578|PMID:9380676|PMID:9483582|PMID:9536098|PMID:9618546 12431654 RHO rhodopsin gene DOID:10584 retinitis pigmentosa ISO RGD:731395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10521250|PMID:10967073|PMID:11094174|PMID:11139241|PMID:11141431|PMID:12660238|PMID:12860986|PMID:12871954|PMID:12966518|PMID:1301135|PMID:1303237|PMID:1484692|PMID:14971589|PMID:1580841|PMID:16123440|PMID:16737970|PMID:16767206|PMID:17014888|PMID:17488458|PMID:17576681|PMID:1765377|PMID:1783387|PMID:18175313|PMID:1833777|PMID:1840561|PMID:1862076|PMID:1882937|PMID:1897520|PMID:19085385|PMID:1924344|PMID:19913029|PMID:19960070|PMID:20164459|PMID:20525296|PMID:20555336|PMID:20591486|PMID:21077204|PMID:21094163|PMID:21174529|PMID:21217109|PMID:21219898|PMID:21352497|PMID:21357407|PMID:21922596|PMID:2215617|PMID:22164218|PMID:22252712|PMID:22791210|PMID:22968130|PMID:22995991|PMID:23221340|PMID:23591405|PMID:23625926|PMID:24106275|PMID:24265693|PMID:24520188|PMID:24760071|PMID:24935155|PMID:24938718|PMID:2509724|PMID:25097241|PMID:25101269|PMID:25221422|PMID:25408095|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26887858|PMID:26962691|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28524165|PMID:28559085|PMID:28981474|PMID:29068140|PMID:29099798|PMID:29847639|PMID:29890221|PMID:30240733|PMID:30718709|PMID:30977563|PMID:31100078|PMID:31319082|PMID:31456290|PMID:31908405|PMID:32037395|PMID:32581362|PMID:33576794|PMID:7724183|PMID:7981701|PMID:7987326|PMID:7987331|PMID:7987385|PMID:8045708|PMID:8088850|PMID:8240107|PMID:8253795|PMID:8317502|PMID:8328469|PMID:8353500|PMID:8401533|PMID:8406457|PMID:8554077|PMID:8841304|PMID:8905849|PMID:9050844|PMID:9197578|PMID:9380676|PMID:9483582|PMID:9536098|PMID:9618546 12431654 RHO rhodopsin gene DOID:10584 retinitis pigmentosa treatment ISO RGD:11239 D RGD:9068941 20200609 RGD PMID:17083931|PMID:21126223|REF_RGD_ID:8547992|REF_RGD_ID:8548552 12431654 RHO rhodopsin gene DOID:10584 retinitis pigmentosa treatment ISO RGD:731395 D RGD:9068941 20200609 RGD PMID:21268285|REF_RGD_ID:8548515 12431654 RHO rhodopsin gene DOID:11105 fundus albipunctatus ISO RGD:731395 D RGD:7240710 20180130 OMIM 12431654 RHO rhodopsin gene DOID:11105 fundus albipunctatus ISO RGD:731395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens PMID:10967073|PMID:12660238|PMID:12966518|PMID:1484692|PMID:16767206|PMID:18175313|PMID:1833777|PMID:1862076|PMID:1882937|PMID:18987202|PMID:1924344|PMID:20525296|PMID:21077204|PMID:21217109|PMID:21352497|PMID:21677794|PMID:21922596|PMID:25101269|PMID:25741868|PMID:25999674|PMID:27458239|PMID:28492532|PMID:28559085|PMID:30718709|PMID:30977563|PMID:31319082|PMID:33669941|PMID:7846071|PMID:7987331|PMID:8107847|PMID:8554077|PMID:8841304|PMID:9197578|PMID:9380676 12431654 RHO rhodopsin gene DOID:630 genetic disease ISO RGD:731395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12431654 RHO rhodopsin gene DOID:7765 Coats disease ISO RGD:731395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Exudative retinopathy PMID:10967073|PMID:25741868|PMID:28492532|PMID:30977563|PMID:7987331|PMID:9380676 12431654 RHO rhodopsin gene DOID:8466 retinal degeneration IAGP D RGD:12801476 20230503 OMIA Progressive retinal atrophy, autosomal dominant PMID:11972042|PMID:15934255|PMID:19234347|PMID:12692159|PMID:9618546|PMID:27085210|PMID:25695253|PMID:15459196|PMID:28114588|PMID:30127005|PMID:35595348|PMID:30050836 12431654 RHO rhodopsin gene DOID:8466 retinal degeneration ISO RGD:731395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:25741868|PMID:28492532|PMID:30972525 12431654 RHO rhodopsin gene DOID:8499 night blindness ISO RGD:731395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Night blindness PMID:20555336|PMID:2215617|PMID:25221422|PMID:25741868|PMID:28041643|PMID:28492532 12431654 RHO rhodopsin gene DOID:8501 fundus dystrophy ISO RGD:731395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10189219|PMID:10967073|PMID:11094174|PMID:11139241|PMID:11879142|PMID:12091393|PMID:12660238|PMID:1301135|PMID:1302614|PMID:1303237|PMID:1418997|PMID:14769795|PMID:1484692|PMID:15126168|PMID:15509574|PMID:1580841|PMID:16170112|PMID:16799052|PMID:17014888|PMID:17488458|PMID:1765377|PMID:1808803|PMID:18175313|PMID:1833777|PMID:1862076|PMID:1882937|PMID:1897520|PMID:1924344|PMID:1929926|PMID:1985460|PMID:1987955|PMID:1987956|PMID:19913029|PMID:19933196|PMID:20164459|PMID:20555336|PMID:20805032|PMID:21094163|PMID:21174529|PMID:21352497|PMID:2137202|PMID:22110080|PMID:2215617|PMID:22321012|PMID:22323724|PMID:22334370|PMID:2239971|PMID:2333895|PMID:23940033|PMID:24106275|PMID:24265693|PMID:24520188|PMID:24853414|PMID:24935155|PMID:25101269|PMID:25221422|PMID:25366773|PMID:25741868|PMID:2613244|PMID:26202387|PMID:26962691|PMID:28041643|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29099798|PMID:29453956|PMID:29847639|PMID:30240733|PMID:30718709|PMID:30977563|PMID:31054281|PMID:31319082|PMID:31877679|PMID:31908405|PMID:31960602|PMID:32037395|PMID:33347869|PMID:33576794|PMID:7724183|PMID:7987326|PMID:8081400|PMID:8088850|PMID:8253795|PMID:8328469|PMID:8554077|PMID:8841304|PMID:8905849|PMID:9010870|PMID:9197578|PMID:9452035|PMID:9724753|PMID:9810568 12431654 RHO rhodopsin gene DOID:9004832 Congenital Hypomyelinating Neuropathy 2 ISO RGD:731395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, congenital hypomyelinating, 2 PMID:17825553 12431654 RHO rhodopsin gene DOID:9006630 Stargardt Disease 1 ISO RGD:731395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease 1 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12431654 RHO rhodopsin gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:731395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 12431654 RHO rhodopsin gene DOID:9270 alkaptonuria ISO RGD:731395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12431665 ABI1 abl interactor 1 gene DOID:0070239 primary coenzyme Q10 deficiency 2 ISO RGD:1604650 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome PMID:25741868 12431665 ABI1 abl interactor 1 gene DOID:630 genetic disease ISO RGD:1604650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431665 ABI1 abl interactor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604650 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 12431693 MRPL55 mitochondrial ribosomal protein L55 gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1317775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:28492532 12431693 MRPL55 mitochondrial ribosomal protein L55 gene DOID:1540 parathyroid carcinoma ISO RGD:1317775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12431693 MRPL55 mitochondrial ribosomal protein L55 gene DOID:630 genetic disease ISO RGD:1317775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431693 MRPL55 mitochondrial ribosomal protein L55 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12431708 CPNE7 copine 7 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1316677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 12431708 CPNE7 copine 7 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1316677 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 12431708 CPNE7 copine 7 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1316677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 12431708 CPNE7 copine 7 gene DOID:13636 Fanconi anemia ISO RGD:1316677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 12431708 CPNE7 copine 7 gene DOID:14780 KBG syndrome ISO RGD:1316677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 12431708 CPNE7 copine 7 gene DOID:630 genetic disease ISO RGD:1316677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431708 CPNE7 copine 7 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1316677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 12431738 PSPN persephin gene DOID:0080490 mucolipidosis type IV ISO RGD:736997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 12431738 PSPN persephin gene DOID:630 genetic disease ISO RGD:736997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431742 PMVK phosphomevalonate kinase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1321931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 12431742 PMVK phosphomevalonate kinase gene DOID:0111940 immunodeficiency 42 ISO RGD:1321931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12431742 PMVK phosphomevalonate kinase gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1321931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12431742 PMVK phosphomevalonate kinase gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1321931 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12431742 PMVK phosphomevalonate kinase gene DOID:1540 parathyroid carcinoma ISO RGD:1321931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12431742 PMVK phosphomevalonate kinase gene DOID:3805 porokeratosis ISO RGD:1321931 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Linear porokeratosis PMID:25741868|PMID:30942823 12431742 PMVK phosphomevalonate kinase gene DOID:5812 MHC class II deficiency ISO RGD:1321931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12431742 PMVK phosphomevalonate kinase gene DOID:630 genetic disease ISO RGD:1321931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431742 PMVK phosphomevalonate kinase gene DOID:9007627 Porokeratosis 1, Multiple Types ISO RGD:1321931 D RGD:7240710 20180130 OMIM 12431742 PMVK phosphomevalonate kinase gene DOID:9007627 Porokeratosis 1, Multiple Types ISO RGD:1321931 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Porokeratosis 1, multiple types | ClinVar Annotator: match by term: Porokeratosis of Mibelli PMID:25741868|PMID:26202976|PMID:30942823 12431742 PMVK phosphomevalonate kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12431808 IER3IP1 immediate early response 3 interacting protein 1 gene DOID:0060356 Vici syndrome ISO RGD:1352833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 12431808 IER3IP1 immediate early response 3 interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:1352833 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12431808 IER3IP1 immediate early response 3 interacting protein 1 gene DOID:1826 epilepsy ISO RGD:1352833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:29358611 12431808 IER3IP1 immediate early response 3 interacting protein 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1352833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:29358611 12431808 IER3IP1 immediate early response 3 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1352833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12431808 IER3IP1 immediate early response 3 interacting protein 1 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1352833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:16972080|PMID:17576681|PMID:21835305|PMID:22991235|PMID:23771172|PMID:24138066|PMID:25741868|PMID:28492532|PMID:28711742|PMID:31264968|PMID:9536098 12431808 IER3IP1 immediate early response 3 interacting protein 1 gene DOID:9004175 Microcephaly, Epilepsy, and Diabetes Syndrome 1 ISO RGD:1352833 D RGD:7240710 20210421 OMIM 12431808 IER3IP1 immediate early response 3 interacting protein 1 gene DOID:9004175 Microcephaly, Epilepsy, and Diabetes Syndrome 1 ISO RGD:1352833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 1 PMID:16972080|PMID:21835305|PMID:22991235|PMID:23771172|PMID:24138066|PMID:25741868|PMID:28492532|PMID:28711742 12431815 C26H22orf15 chromosome 26 C22orf15 homolog gene DOID:0060214 frontotemporal dementia and/or amyotrophic lateral sclerosis-2 ISO RGD:1349066 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: FTDALS2 PMID:28492532 12431815 C26H22orf15 chromosome 26 C22orf15 homolog gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1349066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 12431815 C26H22orf15 chromosome 26 C22orf15 homolog gene DOID:1826 epilepsy ISO RGD:1349066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12431815 C26H22orf15 chromosome 26 C22orf15 homolog gene DOID:5419 schizophrenia ISO RGD:1349066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12431815 C26H22orf15 chromosome 26 C22orf15 homolog gene DOID:630 genetic disease ISO RGD:1349066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431815 C26H22orf15 chromosome 26 C22orf15 homolog gene DOID:9004598 Spinal Muscular Atrophy, Jokela Type ISO RGD:1349066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, jokela type PMID:28492532 12431815 C26H22orf15 chromosome 26 C22orf15 homolog gene DOID:9008878 MITOCHONDRIAL MYOPATHY, ISOLATED, AUTOSOMAL DOMINANT ISO RGD:1349066 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myopathy, isolated mitochondrial, autosomal dominant PMID:28492532 12431834 C1H19orf81 chromosome 1 C19orf81 homolog gene DOID:630 genetic disease ISO RGD:5489342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431847 ADRA2B adrenoceptor alpha 2B gene DOID:0111692 familial adult myoclonic epilepsy 2 ISO RGD:731080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 PMID:25741868 12431847 ADRA2B adrenoceptor alpha 2B gene DOID:1059 intellectual disability ISO RGD:731080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12431847 ADRA2B adrenoceptor alpha 2B gene DOID:10763 hypertension ISO RGD:2057 D RGD:9068941 20200609 RGD PMID:17070424|REF_RGD_ID:2313548 12431847 ADRA2B adrenoceptor alpha 2B gene DOID:10763 hypertension ISO RGD:731080 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:18953403|REF_RGD_ID:2313541 12431847 ADRA2B adrenoceptor alpha 2B gene DOID:1826 epilepsy ISO RGD:731080 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 12431847 ADRA2B adrenoceptor alpha 2B gene DOID:5419 schizophrenia ISO RGD:731080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12431847 ADRA2B adrenoceptor alpha 2B gene DOID:5844 myocardial infarction ISO RGD:731080 D RGD:9068941 20200609 RGD PMID:12535806|REF_RGD_ID:1559314 12431847 ADRA2B adrenoceptor alpha 2B gene DOID:630 genetic disease ISO RGD:731080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12431847 ADRA2B adrenoceptor alpha 2B gene DOID:684 hepatocellular carcinoma ISO RGD:731080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12431847 ADRA2B adrenoceptor alpha 2B gene DOID:850 lung disease ISO RGD:731080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20729197 12431847 ADRA2B adrenoceptor alpha 2B gene DOID:9000781 Cyanosis ISO RGD:731080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20729197 12431847 ADRA2B adrenoceptor alpha 2B gene DOID:9002165 Diabetic Nephropathies ISO RGD:731080 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism (human) PMID:15660746|REF_RGD_ID:2313545 12431847 ADRA2B adrenoceptor alpha 2B gene DOID:9007925 Sudden Cardiac Death ISO RGD:731080 D RGD:9068941 20200609 RGD PMID:12535806|REF_RGD_ID:1559314 12431847 ADRA2B adrenoceptor alpha 2B gene DOID:9352 type 2 diabetes mellitus ISO RGD:731080 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:17277585|REF_RGD_ID:2313543 12431847 ADRA2B adrenoceptor alpha 2B gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:731080 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:17039423|REF_RGD_ID:2313544 12431847 ADRA2B adrenoceptor alpha 2B gene DOID:9743 diabetic neuropathy ISO RGD:731080 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism (human) PMID:17516297|REF_RGD_ID:2313542 12431847 ADRA2B adrenoceptor alpha 2B gene DOID:9970 obesity ISO RGD:731080 D RGD:9068941 20200609 RGD PMID:10404816|REF_RGD_ID:1300265 12431879 HSPB3 heat shock protein family B (small) member 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:68484 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868|PMID:32323160 12431879 HSPB3 heat shock protein family B (small) member 3 gene DOID:0111200 distal hereditary motor neuronopathy type 1 ISO RGD:68484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor 12431879 HSPB3 heat shock protein family B (small) member 3 gene DOID:0111209 distal hereditary motor neuronopathy type 2C ISO RGD:68484 D RGD:7240710 20180130 OMIM 12431879 HSPB3 heat shock protein family B (small) member 3 gene DOID:0111209 distal hereditary motor neuronopathy type 2C ISO RGD:68484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2C PMID:20142617|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32397312 12431879 HSPB3 heat shock protein family B (small) member 3 gene DOID:630 genetic disease ISO RGD:68484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431879 HSPB3 heat shock protein family B (small) member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12431923 SEC61G SEC61 translocon subunit gamma gene DOID:12849 autistic disorder ISO RGD:1314869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12431923 SEC61G SEC61 translocon subunit gamma gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12431923 SEC61G SEC61 translocon subunit gamma gene DOID:630 genetic disease ISO RGD:1314869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431931 PIM2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12431931 PIM2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 12431931 PIM2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 12431931 PIM2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 12431931 PIM2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 12431931 PIM2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 12431931 PIM2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:12849 autistic disorder ISO RGD:1347613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12431931 PIM2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1347613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431931 PIM2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:9119 acute myeloid leukemia ISO RGD:1347613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19458359 12431941 NR2E1 nuclear receptor subfamily 2 group E member 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1346337 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 12431941 NR2E1 nuclear receptor subfamily 2 group E member 1 gene DOID:630 genetic disease ISO RGD:1346337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431954 RTKN rhotekin gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1354382 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 12431954 RTKN rhotekin gene DOID:543 dystonia ISO RGD:1354382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12431954 RTKN rhotekin gene DOID:630 genetic disease ISO RGD:1354382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431954 RTKN rhotekin gene DOID:684 hepatocellular carcinoma ISO RGD:1354382 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:27922690|REF_RGD_ID:19165144 12431954 RTKN rhotekin gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1354382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 12431985 NLRP9 NLR family pyrin domain containing 9 gene DOID:630 genetic disease ISO RGD:1319070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12431997 ST8SIA1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 gene DOID:3602 toxic encephalopathy ISO RGD:1603707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12431997 ST8SIA1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 gene DOID:409 liver disease ISO RGD:1603707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 12431997 ST8SIA1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 gene DOID:630 genetic disease ISO RGD:1603707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432007 SESTD1 SEC14 and spectrin domain containing 1 gene DOID:630 genetic disease ISO RGD:1349123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432007 SESTD1 SEC14 and spectrin domain containing 1 gene DOID:9004657 Weight Gain ISO RGD:1349123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 12432028 PARD3B par-3 family cell polarity regulator beta gene DOID:14557 primary pulmonary hypertension ISO RGD:1312545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 12432028 PARD3B par-3 family cell polarity regulator beta gene DOID:5419 schizophrenia ISO RGD:1312545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12432028 PARD3B par-3 family cell polarity regulator beta gene DOID:630 genetic disease ISO RGD:1312545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432028 PARD3B par-3 family cell polarity regulator beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12432068 DCTN4 dynactin subunit 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736897 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12432068 DCTN4 dynactin subunit 4 gene DOID:1485 cystic fibrosis ISO RGD:736897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22772370 12432068 DCTN4 dynactin subunit 4 gene DOID:630 genetic disease ISO RGD:736897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432068 DCTN4 dynactin subunit 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736897 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12432068 DCTN4 dynactin subunit 4 gene DOID:9007417 Pseudomonas Infections ISO RGD:736897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22772370 12432089 DR1 down-regulator of transcription 1 gene DOID:630 genetic disease ISO RGD:1313088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432096 PRRC1 proline rich coiled-coil 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601934 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12432096 PRRC1 proline rich coiled-coil 1 gene DOID:630 genetic disease ISO RGD:1601934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432096 PRRC1 proline rich coiled-coil 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12432096 PRRC1 proline rich coiled-coil 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601934 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12432115 ZBTB5 zinc finger and BTB domain containing 5 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1316525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 12432115 ZBTB5 zinc finger and BTB domain containing 5 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1316525 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 12432115 ZBTB5 zinc finger and BTB domain containing 5 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1316525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 12432115 ZBTB5 zinc finger and BTB domain containing 5 gene DOID:630 genetic disease ISO RGD:1316525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432115 ZBTB5 zinc finger and BTB domain containing 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 12432115 ZBTB5 zinc finger and BTB domain containing 5 gene DOID:9870 galactosemia ISO RGD:1316525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 12432149 SLC5A9 solute carrier family 5 member 9 gene DOID:630 genetic disease ISO RGD:1322816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432172 CASKIN2 CASK interacting protein 2 gene DOID:630 genetic disease ISO RGD:1320238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432205 SLC2A12 solute carrier family 2 member 12 gene DOID:630 genetic disease ISO RGD:1320922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432219 FBXO30 F-box protein 30 gene DOID:630 genetic disease ISO RGD:1347238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432231 POC1A POC1 centriolar protein A gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:1353956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pituitary dwarfism 1 PMID:22840364|PMID:25558065|PMID:25741868|PMID:26336158|PMID:26374189|PMID:26791357|PMID:28492532 12432231 POC1A POC1 centriolar protein A gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1353956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 12432231 POC1A POC1 centriolar protein A gene DOID:10907 microcephaly ISO RGD:1353956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12432231 POC1A POC1 centriolar protein A gene DOID:630 genetic disease ISO RGD:1353956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12432231 POC1A POC1 centriolar protein A gene DOID:9003030 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis ISO RGD:1353956 D RGD:7240710 20180130 OMIM 12432231 POC1A POC1 centriolar protein A gene DOID:9003030 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis ISO RGD:1353956 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SOFT SYNDROME | ClinVar Annotator: match by term: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis PMID:18414213|PMID:22440536|PMID:22840363|PMID:22840364|PMID:25558065|PMID:25741868|PMID:26336158|PMID:26374189|PMID:26791357|PMID:28492532|PMID:30569574 12432254 GTPBP3 GTP binding protein 3, mitochondrial gene DOID:0111500 combined oxidative phosphorylation deficiency 23 ISO RGD:1313350 D RGD:7240710 20180130 OMIM 12432254 GTPBP3 GTP binding protein 3, mitochondrial gene DOID:0111500 combined oxidative phosphorylation deficiency 23 ISO RGD:1313350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 23 PMID:16199547|PMID:25434004|PMID:25741868|PMID:28492532|PMID:33619562 12432254 GTPBP3 GTP binding protein 3, mitochondrial gene DOID:1059 intellectual disability ISO RGD:1313350 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25434004|PMID:28492532 12432254 GTPBP3 GTP binding protein 3, mitochondrial gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1313350 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25434004|PMID:25741868|PMID:30426380|PMID:34276756|PMID:35413567 12432254 GTPBP3 GTP binding protein 3, mitochondrial gene DOID:630 genetic disease ISO RGD:1313350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30426380 12432254 GTPBP3 GTP binding protein 3, mitochondrial gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1313350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PIGG-related neurodevelopmental disorder PMID:25741868|PMID:28492532 12432254 GTPBP3 GTP binding protein 3, mitochondrial gene DOID:9008086 Developmental Disabilities ISO RGD:1313350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12432267 IL12RB2 interleukin 12 receptor subunit beta 2 gene DOID:1059 intellectual disability ISO RGD:1346577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 12432267 IL12RB2 interleukin 12 receptor subunit beta 2 gene DOID:630 genetic disease ISO RGD:1346577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12432267 IL12RB2 interleukin 12 receptor subunit beta 2 gene DOID:9000998 Brain Injuries ISO RGD:1346577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 12432302 ANTKMT adenine nucleotide translocase lysine methyltransferase gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1343313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12432302 ANTKMT adenine nucleotide translocase lysine methyltransferase gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1343313 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12432302 ANTKMT adenine nucleotide translocase lysine methyltransferase gene DOID:1826 epilepsy ISO RGD:1343313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12432302 ANTKMT adenine nucleotide translocase lysine methyltransferase gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1343313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12432302 ANTKMT adenine nucleotide translocase lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1343313 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432310 FAM20C FAM20C golgi associated secretory pathway kinase gene DOID:0050445 X-linked dominant hypophosphatemic rickets ISO RGD:1323719 D RGD:9068941 20200609 RGD mRNA:increased expression:long bone, osteoblast, osteocyte (mouse) PMID:24710520|REF_RGD_ID:11560488 12432310 FAM20C FAM20C golgi associated secretory pathway kinase gene DOID:0080600 COVID-19 ISO RGD:1323719 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12432310 FAM20C FAM20C golgi associated secretory pathway kinase gene DOID:10609 rickets ISO RGD:1323720 D RGD:9068941 20220825 MouseDO OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 12432310 FAM20C FAM20C golgi associated secretory pathway kinase gene DOID:2187 amelogenesis imperfecta IAGP D RGD:12801476 20210603 OMIA Dental hypomineralization PMID:27187611|PMID:27803843 12432310 FAM20C FAM20C golgi associated secretory pathway kinase gene DOID:630 genetic disease ISO RGD:1323719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12432310 FAM20C FAM20C golgi associated secretory pathway kinase gene DOID:9000666 Raine Syndrome ISO RGD:1323719 D RGD:7240710 20180130 OMIM 12432310 FAM20C FAM20C golgi associated secretory pathway kinase gene DOID:9000666 Raine Syndrome ISO RGD:1323719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia PMID:12868469|PMID:14564151|PMID:17924334|PMID:19250384|PMID:2020859|PMID:20825432|PMID:24033266|PMID:25026495|PMID:25741868|PMID:27862258|PMID:28492532|PMID:32337609 12432310 FAM20C FAM20C golgi associated secretory pathway kinase gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:1323720 D RGD:9068941 20200609 RGD PMID:22615579|REF_RGD_ID:11558021 12432310 FAM20C FAM20C golgi associated secretory pathway kinase gene DOID:9004003 Tooth Demineralization ISO RGD:1323719 D RGD:9068941 20200609 RGD associated with Rickets, Hypophosphatemic;DNA:snps, missense mutation, nonsense mutation:multiple (human) PMID:23325605|REF_RGD_ID:11558022 12432310 FAM20C FAM20C golgi associated secretory pathway kinase gene DOID:9008539 Perinatal Death ISO RGD:1323719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal death PMID:25558065 12432325 ARL6IP4 ADP ribosylation factor like GTPase 6 interacting protein 4 gene DOID:630 genetic disease ISO RGD:1316976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432339 AKAP10 A-kinase anchoring protein 10 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:70080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 12432339 AKAP10 A-kinase anchoring protein 10 gene DOID:12849 autistic disorder ISO RGD:70080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12432339 AKAP10 A-kinase anchoring protein 10 gene DOID:630 genetic disease ISO RGD:70080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432339 AKAP10 A-kinase anchoring protein 10 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:70080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 12432339 AKAP10 A-kinase anchoring protein 10 gene DOID:9007 sudden infant death syndrome ISO RGD:70080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 12432361 NRIP3 nuclear receptor interacting protein 3 gene DOID:630 genetic disease ISO RGD:1312415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432372 CSKMT citrate synthase lysine methyltransferase gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:2304141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 12432372 CSKMT citrate synthase lysine methyltransferase gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:2304141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 12432372 CSKMT citrate synthase lysine methyltransferase gene DOID:1059 intellectual disability ISO RGD:2304141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12432372 CSKMT citrate synthase lysine methyltransferase gene DOID:630 genetic disease ISO RGD:2304141 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432392 DENND3 DENN domain containing 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1605083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 12432392 DENND3 DENN domain containing 3 gene DOID:630 genetic disease ISO RGD:1605083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432425 LOC102152536 zinc finger protein 721 gene DOID:630 genetic disease ISO RGD:1350011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432448 RD3L RD3 like gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:5683670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 12432462 LALBA lactalbumin alpha gene DOID:219 colon cancer onset ISO RGD:10853 D RGD:9068941 20200911 RGD PMID:25036966|REF_RGD_ID:38599174 12432462 LALBA lactalbumin alpha gene DOID:2326 gastroenteritis ISO RGD:737361 D RGD:9068941 20200911 RGD protein:decreased expression:serum (human) PMID:1327323|REF_RGD_ID:38599173 12432462 LALBA lactalbumin alpha gene DOID:630 genetic disease ISO RGD:737361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432470 CPSF6 cleavage and polyadenylation specific factor 6 gene DOID:630 genetic disease ISO RGD:1312196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432484 PDCL3 phosducin like 3 gene DOID:630 genetic disease ISO RGD:1320124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432494 SYNCRIP synaptotagmin binding cytoplasmic RNA interacting protein gene DOID:0060041 autism spectrum disorder ISO RGD:1313857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 12432494 SYNCRIP synaptotagmin binding cytoplasmic RNA interacting protein gene DOID:1059 intellectual disability ISO RGD:1313857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12432494 SYNCRIP synaptotagmin binding cytoplasmic RNA interacting protein gene DOID:1240 leukemia ISO RGD:1313857 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28436985 12432494 SYNCRIP synaptotagmin binding cytoplasmic RNA interacting protein gene DOID:630 genetic disease ISO RGD:1313857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12432520 ACSS2 acyl-CoA synthetase short chain family member 2 gene DOID:0050567 orofacial cleft ISO RGD:1313544 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.V496A (rs59088485) (human) PMID:27229527|PMID:28543373|REF_RGD_ID:13831307|REF_RGD_ID:13831309 12432520 ACSS2 acyl-CoA synthetase short chain family member 2 gene DOID:11981 morbid obesity treatment ISO RGD:1313544 D RGD:9068941 20200609 RGD PMID:22384010|REF_RGD_ID:13831306 12432520 ACSS2 acyl-CoA synthetase short chain family member 2 gene DOID:2843 long QT syndrome ISO RGD:1313544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 12432520 ACSS2 acyl-CoA synthetase short chain family member 2 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:1313544 D RGD:9068941 20220630 RGD protein:increased expression:lung (human) PMID:29885404|REF_RGD_ID:152995523 12432520 ACSS2 acyl-CoA synthetase short chain family member 2 gene DOID:630 genetic disease ISO RGD:1313544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432520 ACSS2 acyl-CoA synthetase short chain family member 2 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:1313544 D RGD:9068941 20200609 RGD PMID:27539851|REF_RGD_ID:13831304 12432520 ACSS2 acyl-CoA synthetase short chain family member 2 gene DOID:9005372 Inflammation ISO RGD:1313544 D RGD:9068941 20200609 RGD associated with nonalcoholic fatty liver disease PMID:25533197|REF_RGD_ID:13831308 12432550 TRIP12 thyroid hormone receptor interactor 12 gene DOID:0080234 Clark-Baraitser syndrome ISO RGD:1315318 D RGD:7240710 20190315 OMIM 12432550 TRIP12 thyroid hormone receptor interactor 12 gene DOID:0080234 Clark-Baraitser syndrome ISO RGD:1315318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clark-Baraitser syndrome PMID:25363768|PMID:25741868|PMID:27848077|PMID:28251352|PMID:28660352|PMID:31814248|PMID:3812552 12432550 TRIP12 thyroid hormone receptor interactor 12 gene DOID:10283 prostate cancer ISO RGD:1315318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12432550 TRIP12 thyroid hormone receptor interactor 12 gene DOID:1059 intellectual disability ISO RGD:1315318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:32581362 12432550 TRIP12 thyroid hormone receptor interactor 12 gene DOID:630 genetic disease ISO RGD:1315318 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20676075|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654 12432550 TRIP12 thyroid hormone receptor interactor 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12432550 TRIP12 thyroid hormone receptor interactor 12 gene DOID:9008582 Developmental Disease ISO RGD:1315318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 12432614 SLTM SAFB like transcription modulator gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:27666822 12432614 SLTM SAFB like transcription modulator gene DOID:2717 Bloom syndrome ISO RGD:1605637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12432614 SLTM SAFB like transcription modulator gene DOID:630 genetic disease ISO RGD:1605637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432614 SLTM SAFB like transcription modulator gene DOID:9256 colorectal cancer ISO RGD:1605637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12432647 TTC14 tetratricopeptide repeat domain 14 gene DOID:0110598 primary ciliary dyskinesia 14 ISO RGD:1320720 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 14 PMID:21131972|PMID:23255504|PMID:24033266|PMID:25741868|PMID:28492532 12432647 TTC14 tetratricopeptide repeat domain 14 gene DOID:0111546 Currarino syndrome ISO RGD:1320720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12432647 TTC14 tetratricopeptide repeat domain 14 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1320720 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 12432647 TTC14 tetratricopeptide repeat domain 14 gene DOID:630 genetic disease ISO RGD:1320720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12432647 TTC14 tetratricopeptide repeat domain 14 gene DOID:9004821 Fibrous Sheath Dysplasia ISO RGD:1320720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous Sheath Dysplasia 12432647 TTC14 tetratricopeptide repeat domain 14 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:21131972|PMID:23255504|PMID:23891469|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33005176|PMID:9536098 12432663 ZC3H11A zinc finger CCCH-type containing 11A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1605103 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 12432663 ZC3H11A zinc finger CCCH-type containing 11A gene DOID:1540 parathyroid carcinoma ISO RGD:1605103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12432663 ZC3H11A zinc finger CCCH-type containing 11A gene DOID:630 genetic disease ISO RGD:1605103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432663 ZC3H11A zinc finger CCCH-type containing 11A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1605103 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 12432663 ZC3H11A zinc finger CCCH-type containing 11A gene DOID:9008939 Breast Neoplasms ISO RGD:1605103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25038754 12432663 ZC3H11A zinc finger CCCH-type containing 11A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12432698 APLP2 amyloid beta precursor like protein 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:731852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 12432698 APLP2 amyloid beta precursor like protein 2 gene DOID:10652 Alzheimer's disease ISO RGD:2128 D RGD:9068941 20200609 RGD PMID:8086458|REF_RGD_ID:734582 12432698 APLP2 amyloid beta precursor like protein 2 gene DOID:1289 neurodegenerative disease ISO RGD:2128 D RGD:9068941 20200609 RGD protein:increased expression:striatum PMID:12372026|REF_RGD_ID:1358285 12432698 APLP2 amyloid beta precursor like protein 2 gene DOID:5419 schizophrenia ISO RGD:731852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12432698 APLP2 amyloid beta precursor like protein 2 gene DOID:630 genetic disease ISO RGD:731852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432698 APLP2 amyloid beta precursor like protein 2 gene DOID:9002955 Nerve Degeneration ISO RGD:731852 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11784781 12432698 APLP2 amyloid beta precursor like protein 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:731852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12432698 APLP2 amyloid beta precursor like protein 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:731852 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12432698 APLP2 amyloid beta precursor like protein 2 gene DOID:9007661 Dwarfism ISO RGD:731852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12432723 MILR1 mast cell immunoglobulin like receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1605249 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12432723 MILR1 mast cell immunoglobulin like receptor 1 gene DOID:0111525 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ISO RGD:1605249 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 PMID:16685652|PMID:21555342|PMID:22155748|PMID:22176657|PMID:23197651|PMID:23596069|PMID:24033266|PMID:25741868|PMID:26123486|PMID:26251896|PMID:27535533|PMID:27592148|PMID:28078310|PMID:28492532|PMID:29625556|PMID:30157269 12432723 MILR1 mast cell immunoglobulin like receptor 1 gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:1605249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions PMID:21555342|PMID:25741868|PMID:28492532 12432723 MILR1 mast cell immunoglobulin like receptor 1 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1605249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 12432723 MILR1 mast cell immunoglobulin like receptor 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:21555342|PMID:22155748|PMID:22176657|PMID:23197651|PMID:23596069|PMID:24033266|PMID:25741868|PMID:26123486|PMID:26251896|PMID:27535533|PMID:28492532|PMID:31286721 12432723 MILR1 mast cell immunoglobulin like receptor 1 gene DOID:630 genetic disease ISO RGD:1605249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12432723 MILR1 mast cell immunoglobulin like receptor 1 gene DOID:9002169 MITOCHONDRIAL DNA DEPLETION SYNDROME 16B ISO RGD:1605249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) PMID:25741868|PMID:28492532 12432723 MILR1 mast cell immunoglobulin like receptor 1 gene DOID:9004590 Acute Liver Failure ISO RGD:1605249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute hepatic failure PMID:25741868|PMID:27592148|PMID:28492532|PMID:30157269 12432723 MILR1 mast cell immunoglobulin like receptor 1 gene DOID:9008345 Mitochondrial DNA Depletion Syndrome 16 ISO RGD:1605249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 16 (hepatic type) PMID:25741868|PMID:28492532 12432736 CORIN corin, serine peptidase gene DOID:10283 prostate cancer ISO RGD:1343750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12432736 CORIN corin, serine peptidase gene DOID:10591 pre-eclampsia ISO RGD:1343750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12432736 CORIN corin, serine peptidase gene DOID:10763 hypertension ISO RGD:1343750 D RGD:9068941 20200609 RGD PMID:16216958|REF_RGD_ID:1581219 12432736 CORIN corin, serine peptidase gene DOID:10763 hypertension ISO RGD:1343750 D RGD:9068941 20200609 RGD DNA:SNPs:associated with increased risk PMID:17485366|REF_RGD_ID:1626338 12432736 CORIN corin, serine peptidase gene DOID:6000 congestive heart failure ISO RGD:727887 D RGD:9068941 20200609 RGD mRNA:decreased expression:left atrium, right atrium (rat) PMID:15155264|REF_RGD_ID:1581218 12432736 CORIN corin, serine peptidase gene DOID:6000 congestive heart failure ISO RGD:727887 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:15191894|REF_RGD_ID:1581217 12432736 CORIN corin, serine peptidase gene DOID:630 genetic disease ISO RGD:1343750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432736 CORIN corin, serine peptidase gene DOID:9003936 Cardiomegaly ISO RGD:1343750 D RGD:9068941 20200609 RGD DNA:SNPs:associated with increased risk PMID:17485366|REF_RGD_ID:1626338 12432736 CORIN corin, serine peptidase gene DOID:9003936 Cardiomegaly ISO RGD:727887 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:15191894|REF_RGD_ID:1581217 12432736 CORIN corin, serine peptidase gene DOID:9008441 Preeclampsia/Eclampsia 5 ISO RGD:1343750 D RGD:7240710 20180130 OMIM 12432736 CORIN corin, serine peptidase gene DOID:9008441 Preeclampsia/Eclampsia 5 ISO RGD:1343750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Preeclampsia/eclampsia 5 PMID:22437503|PMID:24828501|PMID:25741868|PMID:28492532 12432761 RELN reelin gene DOID:0050453 lissencephaly ISO RGD:735880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:23757202|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29671837 12432761 RELN reelin gene DOID:0060041 autism spectrum disorder ISO RGD:735880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24781735|PMID:28191889 12432761 RELN reelin gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:735880 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy with auditory features | ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:14515139|PMID:14593429|PMID:18414213|PMID:20697953|PMID:23287318|PMID:24467814|PMID:24828792|PMID:25620207|PMID:2564880|PMID:25648840|PMID:25741868|PMID:26467025|PMID:26544041|PMID:27064498|PMID:27884173|PMID:28419454|PMID:28492532|PMID:28677532|PMID:29358611|PMID:29969175|PMID:30891068|PMID:31875159|PMID:33004838 12432761 RELN reelin gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:735880 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:14515139|PMID:14593429|PMID:18414213|PMID:20697953|PMID:23287318|PMID:24467814|PMID:24828792|PMID:24848745|PMID:25620207|PMID:25648840|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28419454|PMID:28492532|PMID:28677532|PMID:29056246|PMID:29358611|PMID:29969175|PMID:30891068|PMID:33004838 12432761 RELN reelin gene DOID:0060751 familial temporal lobe epilepsy 7 ISO RGD:735880 D RGD:7240710 20180130 OMIM 12432761 RELN reelin gene DOID:0060751 familial temporal lobe epilepsy 7 ISO RGD:735880 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 7 PMID:14515139|PMID:14593429|PMID:20697953|PMID:24828792|PMID:25620207|PMID:25741868|PMID:26046367|PMID:26467025|PMID:27884173|PMID:28492532|PMID:29358611|PMID:32860008 12432761 RELN reelin gene DOID:0060902 Norman-Roberts syndrome ISO RGD:735880 D RGD:7240710 20180130 OMIM 12432761 RELN reelin gene DOID:0060902 Norman-Roberts syndrome ISO RGD:735880 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:10973257|PMID:11748497|PMID:14515139|PMID:14593429|PMID:16199547|PMID:16311013|PMID:16958033|PMID:17124408|PMID:17366345|PMID:17431900|PMID:17576681|PMID:17955477|PMID:18414213|PMID:19319887|PMID:19435634|PMID:20697953|PMID:21549172|PMID:23287318|PMID:23334996|PMID:23757202|PMID:24267886|PMID:24385848|PMID:24467814|PMID:24828792|PMID:24848745|PMID:25326637|PMID:25620207|PMID:25621899|PMID:25640679|PMID:25648840|PMID:25741868|PMID:26046367|PMID:26302956|PMID:26459092|PMID:26467025|PMID:26901136|PMID:27884173|PMID:28419454|PMID:28454995|PMID:28492532|PMID:28677532|PMID:28783747|PMID:29056246|PMID:29358611|PMID:29671837|PMID:29706646|PMID:29969175|PMID:30091983|PMID:30891068|PMID:31031587|PMID:31134136|PMID:31144778|PMID:31209962|PMID:32086284|PMID:33004838|PMID:33453592|PMID:33994118|PMID:34489640|PMID:7682675|PMID:9536098 12432761 RELN reelin gene DOID:1059 intellectual disability ISO RGD:735880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:14515139|PMID:24828792|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28677532|PMID:29969175 12432761 RELN reelin gene DOID:10652 Alzheimer's disease ISO RGD:735880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20610758 12432761 RELN reelin gene DOID:10652 Alzheimer's disease ISO RGD:735880 D RGD:9068941 20200609 RGD protein: increased expression: brain PMID:20025970|REF_RGD_ID:13207521 12432761 RELN reelin gene DOID:10652 Alzheimer's disease ISO RGD:735880 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:12645087|REF_RGD_ID:729771 12432761 RELN reelin gene DOID:12849 autistic disorder ISO RGD:735880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:24467814|PMID:25741868|PMID:28492532 12432761 RELN reelin gene DOID:12849 autistic disorder no_association ISO RGD:735880 D RGD:9068941 20200609 RGD increased GGC repeats PMID:15048647|REF_RGD_ID:13207520 12432761 RELN reelin gene DOID:12849 autistic disorder susceptibility ISO RGD:735880 D RGD:9068941 20200609 RGD DNA:repeat:promoter: (human) PMID:11317216|REF_RGD_ID:9743913 12432761 RELN reelin gene DOID:12849 autistic disorder susceptibility ISO RGD:735880 D RGD:9068941 20200609 RGD increased GGC repeats PMID:20436377|REF_RGD_ID:13207517 12432761 RELN reelin gene DOID:1324 lung cancer ISO RGD:735880 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 12432761 RELN reelin gene DOID:14250 Down syndrome ISO RGD:735880 D RGD:9068941 20200609 RGD protein: increased expression: brain PMID:20025970|REF_RGD_ID:13207521 12432761 RELN reelin gene DOID:1459 hypothyroidism ISO RGD:3553 D RGD:9068941 20200609 RGD protein:increased expression:layers of neocortex, hypothalamus (rat) PMID:10436054|REF_RGD_ID:634730 12432761 RELN reelin gene DOID:1470 major depressive disorder ISO RGD:735880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11126396 12432761 RELN reelin gene DOID:1596 depressive disorder ISO RGD:735880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 12432761 RELN reelin gene DOID:1824 status epilepticus ISO RGD:3553 D RGD:9068941 20200609 RGD protein:decreased expression:dentate gyrus (rat) PMID:17314278|REF_RGD_ID:2317783 12432761 RELN reelin gene DOID:1826 epilepsy ISO RGD:735880 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12432761 RELN reelin gene DOID:1826 epilepsy ISO RGD:735880 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 12432761 RELN reelin gene DOID:3312 bipolar disorder ISO RGD:735880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11126396|PMID:14708030|PMID:15560956 12432761 RELN reelin gene DOID:3312 bipolar disorder ISO RGD:735880 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus (human) PMID:11126396|REF_RGD_ID:2324681 12432761 RELN reelin gene DOID:3328 temporal lobe epilepsy ISO RGD:735880 D RGD:9068941 20200609 RGD protein: increased methylation: brain PMID:19287316|REF_RGD_ID:13207524 12432761 RELN reelin gene DOID:3328 temporal lobe epilepsy severity ISO RGD:735880 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus (human) PMID:12122039|REF_RGD_ID:2317926 12432761 RELN reelin gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:735880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:14515139|PMID:14593429|PMID:20697953|PMID:24828792|PMID:25620207|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532|PMID:29358611 12432761 RELN reelin gene DOID:3525 middle cerebral artery infarction severity ISO RGD:735881 D RGD:9068941 20200609 RGD PMID:16438965|REF_RGD_ID:13207538 12432761 RELN reelin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12432761 RELN reelin gene DOID:5082 liver cirrhosis ISO RGD:735880 D RGD:9068941 20200609 RGD protein:altered expression:plasma (human) PMID:18449964|REF_RGD_ID:2317777 12432761 RELN reelin gene DOID:5419 schizophrenia ISO RGD:735880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12432761 RELN reelin gene DOID:630 genetic disease ISO RGD:735880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10973257|PMID:11748497|PMID:14515139|PMID:16958033|PMID:17431900|PMID:17955477|PMID:24267886|PMID:24848745|PMID:25621899|PMID:25648840|PMID:25741868|PMID:26046367|PMID:26467025|PMID:28419454|PMID:28492532|PMID:28677532|PMID:29358611|PMID:29671837|PMID:29969175|PMID:33004838 12432761 RELN reelin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3553 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, plasma (rat) PMID:18449964|REF_RGD_ID:2317777 12432761 RELN reelin gene DOID:9004866 Ataxia ISO RGD:735881 D RGD:9068941 20200609 RGD PMID:7715726|REF_RGD_ID:2324615 12432761 RELN reelin gene DOID:9006255 Sacroiliac Arthritis ISO RGD:735880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthritis, sacroiliac 12432761 RELN reelin gene DOID:9006534 Nervous System Malformations ISO RGD:735880 D RGD:9068941 20200609 RGD mRNA:splicing errors:exon 36, exon 42:c.5705_5790del, c.6696_6844del (human) PMID:10973257|REF_RGD_ID:1358410 12432834 S1PR2 sphingosine-1-phosphate receptor 2 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:68467 D RGD:9068941 20220825 MouseDO OMIM:605027 12432834 S1PR2 sphingosine-1-phosphate receptor 2 gene DOID:0110519 autosomal recessive nonsyndromic deafness 68 ISO RGD:1343937 D RGD:7240710 20190315 OMIM 12432834 S1PR2 sphingosine-1-phosphate receptor 2 gene DOID:0110519 autosomal recessive nonsyndromic deafness 68 ISO RGD:1343937 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 68 PMID:16703383|PMID:24033266|PMID:24824130|PMID:25741868|PMID:26805784|PMID:28492532 12432834 S1PR2 sphingosine-1-phosphate receptor 2 gene DOID:114 heart disease ISO RGD:1343937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 12432834 S1PR2 sphingosine-1-phosphate receptor 2 gene DOID:630 genetic disease ISO RGD:1343937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 12432834 S1PR2 sphingosine-1-phosphate receptor 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1343937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26518876 12432834 S1PR2 sphingosine-1-phosphate receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1343937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22406263 12432840 NFIC nuclear factor I C gene DOID:630 genetic disease ISO RGD:69148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432840 NFIC nuclear factor I C gene DOID:9002304 Prostatic Neoplasms ISO RGD:69148 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 12432840 NFIC nuclear factor I C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12432864 RASA2 RAS p21 protein activator 2 gene DOID:1682 congenital heart disease ISO RGD:735538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:28492532 12432864 RASA2 RAS p21 protein activator 2 gene DOID:1909 melanoma ISO RGD:735538 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26214590|PMID:26502337 12432864 RASA2 RAS p21 protein activator 2 gene DOID:3490 Noonan syndrome ISO RGD:735538 D RGD:9068941 20221028 RGD DNA:missense mutations:exon:multiple (human) PMID:25049390|REF_RGD_ID:11096563 12432864 RASA2 RAS p21 protein activator 2 gene DOID:630 genetic disease ISO RGD:735538 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12432893 STMN4 stathmin 4 gene DOID:630 genetic disease ISO RGD:733859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432916 GBX2 gastrulation brain homeobox 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1348762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 12432916 GBX2 gastrulation brain homeobox 2 gene DOID:630 genetic disease ISO RGD:1348762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12432916 GBX2 gastrulation brain homeobox 2 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1348762 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 12432924 EP400 E1A binding protein p400 gene DOID:630 genetic disease ISO RGD:1312347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12432924 EP400 E1A binding protein p400 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312347 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12432924 EP400 E1A binding protein p400 gene DOID:9256 colorectal cancer ISO RGD:1312347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 12433009 LRRC15 leucine rich repeat containing 15 gene DOID:630 genetic disease ISO RGD:733250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433015 RPL22L1 ribosomal protein L22 like 1 gene DOID:1062 Fanconi syndrome ISO RGD:1602286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 12433015 RPL22L1 ribosomal protein L22 like 1 gene DOID:630 genetic disease ISO RGD:1602286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433023 GZMK granzyme K gene DOID:630 genetic disease ISO RGD:68588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433023 GZMK granzyme K gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12433032 NLRC3 NLR family CARD domain containing 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604212 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12433032 NLRC3 NLR family CARD domain containing 3 gene DOID:1826 epilepsy ISO RGD:1604212 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12433032 NLRC3 NLR family CARD domain containing 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604212 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12433032 NLRC3 NLR family CARD domain containing 3 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1604212 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12433032 NLRC3 NLR family CARD domain containing 3 gene DOID:630 genetic disease ISO RGD:1604212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433032 NLRC3 NLR family CARD domain containing 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1604212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30081150 12433060 FAM234A family with sequence similarity 234 member A gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1345598 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12433060 FAM234A family with sequence similarity 234 member A gene DOID:1826 epilepsy ISO RGD:1345598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 12433060 FAM234A family with sequence similarity 234 member A gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1345598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12433060 FAM234A family with sequence similarity 234 member A gene DOID:630 genetic disease ISO RGD:1345598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433060 FAM234A family with sequence similarity 234 member A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 12433078 DSC1 desmocollin 1 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1321863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:28492532 12433078 DSC1 desmocollin 1 gene DOID:1059 intellectual disability ISO RGD:1321863 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12433078 DSC1 desmocollin 1 gene DOID:1909 melanoma ISO RGD:1321863 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22197931 12433078 DSC1 desmocollin 1 gene DOID:630 genetic disease ISO RGD:1321863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433078 DSC1 desmocollin 1 gene DOID:9001004 Chronic Periodontitis ISO RGD:1321863 D RGD:9068941 20200609 RGD mRNA:decreased expression:gingival tissues PMID:21382035|REF_RGD_ID:6480655 12433108 ESRRB estrogen related receptor beta gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1342767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:23967202|PMID:24033266|PMID:30303587|PMID:33524517 12433108 ESRRB estrogen related receptor beta gene DOID:0110493 autosomal recessive nonsyndromic deafness 35 ISO RGD:1342767 D RGD:7240710 20180130 OMIM 12433108 ESRRB estrogen related receptor beta gene DOID:0110493 autosomal recessive nonsyndromic deafness 35 ISO RGD:1342767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 35 PMID:12529709|PMID:18179891|PMID:22951369|PMID:23767834|PMID:24033266|PMID:25342930|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29636544|PMID:30828346|PMID:31389194 12433108 ESRRB estrogen related receptor beta gene DOID:1059 intellectual disability ISO RGD:1342767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 12433108 ESRRB estrogen related receptor beta gene DOID:12930 dilated cardiomyopathy ISO RGD:1621573 D RGD:9068941 20220825 MouseDO 12433108 ESRRB estrogen related receptor beta gene DOID:5426 primary ovarian insufficiency ISO RGD:1342767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12433108 ESRRB estrogen related receptor beta gene DOID:630 genetic disease ISO RGD:1342767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:30311386 12433108 ESRRB estrogen related receptor beta gene DOID:9004538 Hearing Loss ISO RGD:1342767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:23967202|PMID:24033266|PMID:28492532|PMID:30303587|PMID:30311386|PMID:33524517 12433122 GRB7 growth factor receptor bound protein 7 gene DOID:0050922 gastrointestinal carcinoma ISO RGD:733273 D RGD:9068941 20220204 RGD mRNA:increased expression:stomach (human) PMID:16849520|REF_RGD_ID:151347663 12433122 GRB7 growth factor receptor bound protein 7 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:733273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 12433122 GRB7 growth factor receptor bound protein 7 gene DOID:10534 stomach cancer ISO RGD:733273 D RGD:9068941 20220204 RGD mRNA:increased expression:mucosa of stomach (human) PMID:17229543|REF_RGD_ID:151347657 12433122 GRB7 growth factor receptor bound protein 7 gene DOID:1107 esophageal carcinoma exacerbates ISO RGD:733273 D RGD:9068941 20220204 RGD mRNA:increased expression:esophagus mucosa (human) PMID:8988034|REF_RGD_ID:151347660 12433122 GRB7 growth factor receptor bound protein 7 gene DOID:299 adenocarcinoma ISO RGD:733273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 12433122 GRB7 growth factor receptor bound protein 7 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:733273 D RGD:9068941 20220204 RGD mRNA:increased expression:esophagus mucosa (human) PMID:26465158|REF_RGD_ID:151347661 12433122 GRB7 growth factor receptor bound protein 7 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:733273 D RGD:9068941 20220204 RGD protein:increased expression:esophagus (human) PMID:10797316|REF_RGD_ID:151347654 12433122 GRB7 growth factor receptor bound protein 7 gene DOID:4450 renal cell carcinoma ISO RGD:733273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 12433122 GRB7 growth factor receptor bound protein 7 gene DOID:4914 esophagus adenocarcinoma exacerbates ISO RGD:733273 D RGD:9068941 20220204 RGD human cells in a mouse model PMID:32737994|REF_RGD_ID:151347656 12433122 GRB7 growth factor receptor bound protein 7 gene DOID:4914 esophagus adenocarcinoma treatment ISO RGD:733273 D RGD:9068941 20220204 RGD PMID:31809243|REF_RGD_ID:151347659 12433122 GRB7 growth factor receptor bound protein 7 gene DOID:5517 stomach carcinoma ISO RGD:733273 D RGD:9068941 20220204 RGD mRNA:increased expression:stomach (human) PMID:9125150|REF_RGD_ID:151347662 12433122 GRB7 growth factor receptor bound protein 7 gene DOID:630 genetic disease ISO RGD:733273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433122 GRB7 growth factor receptor bound protein 7 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:733273 D RGD:9068941 20220204 RGD protein:increased expression:liver (human) PMID:17634422|REF_RGD_ID:151347655 12433122 GRB7 growth factor receptor bound protein 7 gene DOID:9002189 High Myopia ISO RGD:733273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 12433122 GRB7 growth factor receptor bound protein 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12433122 GRB7 growth factor receptor bound protein 7 gene DOID:9005172 Lung Neoplasms ISO RGD:733273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 12433122 GRB7 growth factor receptor bound protein 7 gene DOID:9008939 Breast Neoplasms ISO RGD:733273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17426702|PMID:19075277 12433148 GGTA1 glycoprotein alpha-galactosyltransferase 1 (inactive) gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350501 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12433195 NUPR2 nuclear protein 2, transcriptional regulator gene DOID:12849 autistic disorder ISO RGD:6770124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12433195 NUPR2 nuclear protein 2, transcriptional regulator gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:6770124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12433195 NUPR2 nuclear protein 2, transcriptional regulator gene DOID:630 genetic disease ISO RGD:6770124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433201 C5H1orf159 chromosome 5 C1orf159 homolog gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1606269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12433201 C5H1orf159 chromosome 5 C1orf159 homolog gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12433201 C5H1orf159 chromosome 5 C1orf159 homolog gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1606269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12433201 C5H1orf159 chromosome 5 C1orf159 homolog gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1606269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 12433201 C5H1orf159 chromosome 5 C1orf159 homolog gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1606269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 12433201 C5H1orf159 chromosome 5 C1orf159 homolog gene DOID:0110994 Joubert syndrome 25 ISO RGD:1606269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12433201 C5H1orf159 chromosome 5 C1orf159 homolog gene DOID:0111934 immunodeficiency 38 ISO RGD:1606269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12433201 C5H1orf159 chromosome 5 C1orf159 homolog gene DOID:0111935 immunodeficiency 16 ISO RGD:1606269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12433201 C5H1orf159 chromosome 5 C1orf159 homolog gene DOID:630 genetic disease ISO RGD:1606269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433201 C5H1orf159 chromosome 5 C1orf159 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12433201 C5H1orf159 chromosome 5 C1orf159 homolog gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1606269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 12433201 C5H1orf159 chromosome 5 C1orf159 homolog gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1606269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12433232 EFHD2 EF-hand domain family member D2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1316863 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12433232 EFHD2 EF-hand domain family member D2 gene DOID:630 genetic disease ISO RGD:1316863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433232 EFHD2 EF-hand domain family member D2 gene DOID:9006302 Binge Drinking ISO RGD:1316863 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28397836 12433240 LRATD1 LRAT domain containing 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1602648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12433240 LRATD1 LRAT domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1602648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12433240 LRATD1 LRAT domain containing 1 gene DOID:630 genetic disease ISO RGD:1602648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433252 ZNF75D zinc finger protein 75D gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12433252 ZNF75D zinc finger protein 75D gene DOID:12849 autistic disorder ISO RGD:1345365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12433252 ZNF75D zinc finger protein 75D gene DOID:630 genetic disease ISO RGD:1345365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433266 GNG7 G protein subunit gamma 7 gene DOID:630 genetic disease ISO RGD:1348974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433266 GNG7 G protein subunit gamma 7 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1348974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18219292 12433266 GNG7 G protein subunit gamma 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12433275 EIF4EBP3 eukaryotic translation initiation factor 4E binding protein 3 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1347749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12433275 EIF4EBP3 eukaryotic translation initiation factor 4E binding protein 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347749 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12433275 EIF4EBP3 eukaryotic translation initiation factor 4E binding protein 3 gene DOID:0110541 autosomal dominant nonsyndromic deafness 1 ISO RGD:1347749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA PMID:28492532 12433275 EIF4EBP3 eukaryotic translation initiation factor 4E binding protein 3 gene DOID:630 genetic disease ISO RGD:1347749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433275 EIF4EBP3 eukaryotic translation initiation factor 4E binding protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12433275 EIF4EBP3 eukaryotic translation initiation factor 4E binding protein 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347749 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12433286 C24H20orf141 chromosome 24 C20orf141 homolog gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1347173 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12433286 C24H20orf141 chromosome 24 C20orf141 homolog gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1347173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12433286 C24H20orf141 chromosome 24 C20orf141 homolog gene DOID:630 genetic disease ISO RGD:1347173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433306 HOMEZ homeobox and leucine zipper encoding gene DOID:0060439 lysinuric protein intolerance ISO RGD:735425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12433306 HOMEZ homeobox and leucine zipper encoding gene DOID:630 genetic disease ISO RGD:735425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433306 HOMEZ homeobox and leucine zipper encoding gene DOID:9000265 Specific Granule Deficiency ISO RGD:735425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 12433306 HOMEZ homeobox and leucine zipper encoding gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:735425 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12433315 ZNF593 zinc finger protein 593 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1320928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 12433315 ZNF593 zinc finger protein 593 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1320928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 12433315 ZNF593 zinc finger protein 593 gene DOID:630 genetic disease ISO RGD:1320928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433315 ZNF593 zinc finger protein 593 gene DOID:9000217 Stomach Neoplasms ISO RGD:1320928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12433315 ZNF593 zinc finger protein 593 gene DOID:9000918 Disease Progression ISO RGD:1320928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 12433322 ZFP41 ZFP41 zinc finger protein gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1606662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12433322 ZFP41 ZFP41 zinc finger protein gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1606662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 12433322 ZFP41 ZFP41 zinc finger protein gene DOID:4621 holoprosencephaly ISO RGD:1606662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 12433322 ZFP41 ZFP41 zinc finger protein gene DOID:630 genetic disease ISO RGD:1606662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433419 VPS50 VPS50 subunit of EARP/GARPII complex gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12433419 VPS50 VPS50 subunit of EARP/GARPII complex gene DOID:630 genetic disease ISO RGD:1604352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433419 VPS50 VPS50 subunit of EARP/GARPII complex gene DOID:9000387 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS ISO RGD:1604352 D RGD:7240710 20220323 OMIM 12433419 VPS50 VPS50 subunit of EARP/GARPII complex gene DOID:9000387 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS ISO RGD:1604352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis PMID:34037727 12433451 THNSL2 threonine synthase like 2 gene DOID:630 genetic disease ISO RGD:1605368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433472 MAT2A methionine adenosyltransferase 2A gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:737506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 12433472 MAT2A methionine adenosyltransferase 2A gene DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 ISO RGD:737506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: VITAMIN K-DEPENDENT COAGULATION DEFECT 12433472 MAT2A methionine adenosyltransferase 2A gene DOID:1324 lung cancer treatment ISO RGD:737506 D RGD:9068941 20220915 RGD human cells in mouse model PMID:34258296|REF_RGD_ID:153350142 12433472 MAT2A methionine adenosyltransferase 2A gene DOID:14004 thoracic aortic aneurysm ISO RGD:737506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:28166811|PMID:28492532|PMID:9536098 12433472 MAT2A methionine adenosyltransferase 2A gene DOID:14004 thoracic aortic aneurysm ISO RGD:737506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:28492532|PMID:9536098 12433472 MAT2A methionine adenosyltransferase 2A gene DOID:3393 coronary artery disease ISO RGD:737506 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 12433472 MAT2A methionine adenosyltransferase 2A gene DOID:630 genetic disease ISO RGD:737506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433485 GPD2 glycerol-3-phosphate dehydrogenase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:737186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 12433485 GPD2 glycerol-3-phosphate dehydrogenase 2 gene DOID:0080600 COVID-19 ISO RGD:737186 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12433485 GPD2 glycerol-3-phosphate dehydrogenase 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:737186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:9070847 12433485 GPD2 glycerol-3-phosphate dehydrogenase 2 gene DOID:11476 osteoporosis ISO RGD:737186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 12433485 GPD2 glycerol-3-phosphate dehydrogenase 2 gene DOID:14749 methylmalonic acidemia ISO RGD:737186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 12433485 GPD2 glycerol-3-phosphate dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:737186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433485 GPD2 glycerol-3-phosphate dehydrogenase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 12433485 GPD2 glycerol-3-phosphate dehydrogenase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:9070847 12433485 GPD2 glycerol-3-phosphate dehydrogenase 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737186 D RGD:7240710 20230505 OMIM 12433507 CCSER2 coiled-coil serine rich protein 2 gene DOID:630 genetic disease ISO RGD:1312172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433550 IFT46 intraflagellar transport 46 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1604332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12433550 IFT46 intraflagellar transport 46 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1604332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 12433550 IFT46 intraflagellar transport 46 gene DOID:0080690 RASopathy ISO RGD:1604332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 12433550 IFT46 intraflagellar transport 46 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1604332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 12433550 IFT46 intraflagellar transport 46 gene DOID:0110651 long QT syndrome 10 ISO RGD:1604332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 12433550 IFT46 intraflagellar transport 46 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1604332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12433550 IFT46 intraflagellar transport 46 gene DOID:0111971 immunodeficiency 18 ISO RGD:1604332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12433550 IFT46 intraflagellar transport 46 gene DOID:0111972 immunodeficiency 19 ISO RGD:1604332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12433550 IFT46 intraflagellar transport 46 gene DOID:0111973 immunodeficiency 17 ISO RGD:1604332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 12433550 IFT46 intraflagellar transport 46 gene DOID:630 genetic disease ISO RGD:1604332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433550 IFT46 intraflagellar transport 46 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 12433550 IFT46 intraflagellar transport 46 gene DOID:9007661 Dwarfism ISO RGD:1604332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 12433566 RTCA RNA 3'-terminal phosphate cyclase gene DOID:630 genetic disease ISO RGD:1344520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433566 RTCA RNA 3'-terminal phosphate cyclase gene DOID:9269 maple syrup urine disease ISO RGD:1344520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 12433588 PRMT5 protein arginine methyltransferase 5 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1319178 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:31123343 12433588 PRMT5 protein arginine methyltransferase 5 gene DOID:0050902 medulloblastoma ISO RGD:1319178 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:31694585 12433588 PRMT5 protein arginine methyltransferase 5 gene DOID:0060250 idiopathic scoliosis ISO RGD:1319179 D RGD:9068941 20220825 MouseDO 12433588 PRMT5 protein arginine methyltransferase 5 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1319178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 12433588 PRMT5 protein arginine methyltransferase 5 gene DOID:2696 Leydig cell tumor ISO RGD:1319178 D RGD:9068941 20200609 RGD protein:altered localization PMID:17437848|REF_RGD_ID:2299953 12433588 PRMT5 protein arginine methyltransferase 5 gene DOID:2841 asthma ISO RGD:1309053 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, spleen PMID:20423833|REF_RGD_ID:9491823 12433588 PRMT5 protein arginine methyltransferase 5 gene DOID:4440 seminoma ISO RGD:1319178 D RGD:9068941 20200609 RGD protein:altered localization PMID:17437848|REF_RGD_ID:2299953 12433588 PRMT5 protein arginine methyltransferase 5 gene DOID:630 genetic disease ISO RGD:1319178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433588 PRMT5 protein arginine methyltransferase 5 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1319178 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 12433588 PRMT5 protein arginine methyltransferase 5 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319178 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 12433588 PRMT5 protein arginine methyltransferase 5 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1319178 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:30957988 12433588 PRMT5 protein arginine methyltransferase 5 gene DOID:9538 multiple myeloma ISO RGD:1319178 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:29158558 12433616 SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12433616 SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1350342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:17142121 12433616 SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 gene DOID:12849 autistic disorder ISO RGD:1350342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Mental retardation, X-linked PMID:21681106|PMID:25741868|PMID:30208311 12433616 SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 gene DOID:630 genetic disease ISO RGD:1350342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14536084 12433616 SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12433616 SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1350342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED PMID:25741868 12433644 CDK4 cyclin dependent kinase 4 gene DOID:10283 prostate cancer ISO RGD:732061 D RGD:9068941 20200609 RGD PMID:16648554|REF_RGD_ID:2293560 12433644 CDK4 cyclin dependent kinase 4 gene DOID:10534 stomach cancer ISO RGD:732061 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:36988593 12433644 CDK4 cyclin dependent kinase 4 gene DOID:11054 urinary bladder cancer ISO RGD:621120 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:16896691|REF_RGD_ID:2289144 12433644 CDK4 cyclin dependent kinase 4 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732061 D RGD:9068941 20200609 RGD DNA:amplification PMID:11971182|REF_RGD_ID:2299056 12433644 CDK4 cyclin dependent kinase 4 gene DOID:11132 prostatic hypertrophy ISO RGD:621120 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:17962342|REF_RGD_ID:2289135 12433644 CDK4 cyclin dependent kinase 4 gene DOID:1612 breast cancer disease_progression ISO RGD:732061 D RGD:9068941 20200609 RGD PMID:16440198|REF_RGD_ID:2293576 12433644 CDK4 cyclin dependent kinase 4 gene DOID:1793 pancreatic cancer ISO RGD:621120 D RGD:9068941 20200609 RGD protein:increased expression:islet of Langerhans, nucleus (rat) PMID:22477723|REF_RGD_ID:13452386 12433644 CDK4 cyclin dependent kinase 4 gene DOID:1793 pancreatic cancer ISO RGD:732061 D RGD:9068941 20200609 RGD protein:increased expression:islet of Langerhans (human) PMID:22761470|REF_RGD_ID:13452384 12433644 CDK4 cyclin dependent kinase 4 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:732062 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (mouse) PMID:11159909|REF_RGD_ID:13452385 12433644 CDK4 cyclin dependent kinase 4 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:732062 D RGD:9068941 20200609 RGD PMID:24531709|REF_RGD_ID:13452387 12433644 CDK4 cyclin dependent kinase 4 gene DOID:1799 islet cell tumor ISO RGD:732061 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, islet of Langerhans (human) PMID:22761470|REF_RGD_ID:13452384 12433644 CDK4 cyclin dependent kinase 4 gene DOID:1909 melanoma ISO RGD:732061 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Melanoma PMID:11756559|PMID:15880589|PMID:21801156|PMID:23384855|PMID:23546221|PMID:24256466|PMID:25157968|PMID:26619011|PMID:28492532|PMID:29774366|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9425228 12433644 CDK4 cyclin dependent kinase 4 gene DOID:2154 nephroblastoma disease_progression ISO RGD:732061 D RGD:9068941 20200609 RGD PMID:15797629|REF_RGD_ID:2289153 12433644 CDK4 cyclin dependent kinase 4 gene DOID:2394 ovarian cancer ISO RGD:732061 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:26467025|PMID:28492532 12433644 CDK4 cyclin dependent kinase 4 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:732061 D RGD:9068941 20200609 RGD PMID:15161057|REF_RGD_ID:2293580 12433644 CDK4 cyclin dependent kinase 4 gene DOID:2696 Leydig cell tumor ISO RGD:732062 D RGD:9068941 20200609 RGD associated with Multiple Endocrine Neoplasia Type 1;protein:increased expression:testes PMID:18310289|REF_RGD_ID:2293582 12433644 CDK4 cyclin dependent kinase 4 gene DOID:305 carcinoma ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:14522882 12433644 CDK4 cyclin dependent kinase 4 gene DOID:3068 glioblastoma ISO RGD:732061 D RGD:9068941 20200609 RGD DNA:amplication PMID:23796897|REF_RGD_ID:13702089 12433644 CDK4 cyclin dependent kinase 4 gene DOID:3070 high grade glioma ISO RGD:732062 D RGD:9068941 20200609 RGD PMID:21844184|REF_RGD_ID:13702091 12433644 CDK4 cyclin dependent kinase 4 gene DOID:3070 high grade glioma disease_progression ISO RGD:732061 D RGD:9068941 20200609 RGD PMID:23761023|REF_RGD_ID:13702090 12433644 CDK4 cyclin dependent kinase 4 gene DOID:3369 Ewing sarcoma ISO RGD:732061 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ewing sarcoma PMID:24755471|PMID:25318351|PMID:25741868|PMID:26252490|PMID:26467025|PMID:28166811|PMID:28492532|PMID:30093976|PMID:30851086 12433644 CDK4 cyclin dependent kinase 4 gene DOID:3382 liposarcoma ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20601955|PMID:23569312 12433644 CDK4 cyclin dependent kinase 4 gene DOID:3459 breast carcinoma ISO RGD:732061 D RGD:9068941 20200609 RGD DNA:amplification PMID:9916925|REF_RGD_ID:2293583 12433644 CDK4 cyclin dependent kinase 4 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:732061 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, islet of Langerhans (human) PMID:29735403|REF_RGD_ID:13781899 12433644 CDK4 cyclin dependent kinase 4 gene DOID:3907 lung squamous cell carcinoma ISO RGD:732061 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:9751261|REF_RGD_ID:13464277 12433644 CDK4 cyclin dependent kinase 4 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732061 D RGD:9068941 20200609 RGD PMID:24959380|REF_RGD_ID:13464275 12433644 CDK4 cyclin dependent kinase 4 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732061 D RGD:9068941 20200609 RGD PMID:24496383|REF_RGD_ID:13464276 12433644 CDK4 cyclin dependent kinase 4 gene DOID:3910 lung adenocarcinoma ISO RGD:732061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11756559|PMID:15880589|PMID:21801156|PMID:22804906|PMID:23384855|PMID:23546221|PMID:24256466|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29774366|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9425228 12433644 CDK4 cyclin dependent kinase 4 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:732061 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:22509328|REF_RGD_ID:13792559 12433644 CDK4 cyclin dependent kinase 4 gene DOID:4450 renal cell carcinoma ISO RGD:732061 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:15991006|REF_RGD_ID:2293579 12433644 CDK4 cyclin dependent kinase 4 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29464035 12433644 CDK4 cyclin dependent kinase 4 gene DOID:684 hepatocellular carcinoma ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26189965 12433644 CDK4 cyclin dependent kinase 4 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:621120 D RGD:9068941 20220714 RGD PMID:33841550|REF_RGD_ID:152998960 12433644 CDK4 cyclin dependent kinase 4 gene DOID:6846 familial melanoma ISO RGD:732061 D RGD:7240710 20190410 OMIM 12433644 CDK4 cyclin dependent kinase 4 gene DOID:6846 familial melanoma ISO RGD:732061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19690981|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:26976419|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:31159747|PMID:31570899|PMID:32645390|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 12433644 CDK4 cyclin dependent kinase 4 gene DOID:6846 familial melanoma ISO RGD:732061 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:26976419|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:31159747|PMID:31570899|PMID:32645390|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 12433644 CDK4 cyclin dependent kinase 4 gene DOID:6846 familial melanoma ISO RGD:732061 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:26976419|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31570899|PMID:32645390|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 12433644 CDK4 cyclin dependent kinase 4 gene DOID:6846 familial melanoma ISO RGD:732061 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:26976419|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31570899|PMID:32645390|PMID:34285288|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 12433644 CDK4 cyclin dependent kinase 4 gene DOID:6846 familial melanoma ISO RGD:732061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19690981|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:26976419|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29625052|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31570899|PMID:32645390|PMID:34285288|PMID:35264596|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 12433644 CDK4 cyclin dependent kinase 4 gene DOID:7698 non-functioning pancreatic endocrine tumor ISO RGD:732061 D RGD:9068941 20200609 RGD associated with multiple endocrine neoplasia type 1;mRNA:increased expression:islet of Langerhans (human) PMID:29149451|REF_RGD_ID:13781946 12433644 CDK4 cyclin dependent kinase 4 gene DOID:8923 skin melanoma ISO RGD:732061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11756559|PMID:15880589|PMID:21801156|PMID:22804906|PMID:23384855|PMID:23546221|PMID:24256466|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29774366|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9425228 12433644 CDK4 cyclin dependent kinase 4 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:732061 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections;protein:increased expression:cervix epithelium PMID:18301453|REF_RGD_ID:2293574 12433644 CDK4 cyclin dependent kinase 4 gene DOID:9000217 Stomach Neoplasms ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21628965 12433644 CDK4 cyclin dependent kinase 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:14522882 12433644 CDK4 cyclin dependent kinase 4 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:732061 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:11358847|REF_RGD_ID:2296041 12433644 CDK4 cyclin dependent kinase 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621120 D RGD:9068941 20200609 RGD PMID:16534847|REF_RGD_ID:2289284 12433644 CDK4 cyclin dependent kinase 4 gene DOID:9002170 Experimental Neoplasms ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 12433644 CDK4 cyclin dependent kinase 4 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732061 D RGD:9068941 20200609 RGD PMID:17692085|REF_RGD_ID:2299054 12433644 CDK4 cyclin dependent kinase 4 gene DOID:9002777 Brain Stem Neoplasms ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24098593 12433644 CDK4 cyclin dependent kinase 4 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:732061 D RGD:9068941 20200609 RGD DNA:amplification PMID:11311493|REF_RGD_ID:2299057 12433644 CDK4 cyclin dependent kinase 4 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:732061 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections;protein:increased expression:cervix epithelium PMID:18301453|REF_RGD_ID:2293574 12433644 CDK4 cyclin dependent kinase 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:621120 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland PMID:14522882|REF_RGD_ID:2293581 12433644 CDK4 cyclin dependent kinase 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:14522882|PMID:25221644 12433644 CDK4 cyclin dependent kinase 4 gene DOID:9005233 Experimental Mammary Neoplasms susceptibility ISO RGD:732062 D RGD:9068941 20200609 RGD PMID:16413469|REF_RGD_ID:2293577 12433644 CDK4 cyclin dependent kinase 4 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:732061 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:33727089 12433644 CDK4 cyclin dependent kinase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:31159747|PMID:31570899|PMID:32645390|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 12433644 CDK4 cyclin dependent kinase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732061 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31570899|PMID:32645390|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 12433644 CDK4 cyclin dependent kinase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732061 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31570899|PMID:32645390|PMID:34285288|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 12433644 CDK4 cyclin dependent kinase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:26976419|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29625052|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31118792|PMID:31159747|PMID:31570899|PMID:32645390|PMID:34285288|PMID:35264596|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 12433644 CDK4 cyclin dependent kinase 4 gene DOID:9007480 Hyperoxia ISO RGD:621120 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:18082050|REF_RGD_ID:2289663 12433644 CDK4 cyclin dependent kinase 4 gene DOID:9007502 Brain Neoplasms ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 12433644 CDK4 cyclin dependent kinase 4 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:732061 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:14648178|REF_RGD_ID:2299055 12433644 CDK4 cyclin dependent kinase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732061 D RGD:9068941 20200609 RGD PMID:18678431|REF_RGD_ID:2314611 12433644 CDK4 cyclin dependent kinase 4 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:732061 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:IVS4-40G>A (human) PMID:19695727|REF_RGD_ID:2314610 12433644 CDK4 cyclin dependent kinase 4 gene DOID:9538 multiple myeloma ISO RGD:732061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma PMID:11756559|PMID:15880589|PMID:21801156|PMID:22804906|PMID:23384855|PMID:23546221|PMID:24256466|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29774366|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9425228 12433644 CDK4 cyclin dependent kinase 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:732062 D RGD:9068941 20200609 RGD PMID:10319860|REF_RGD_ID:2314613 12433644 CDK4 cyclin dependent kinase 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:732062 D RGD:9068941 20220825 MouseDO OMIM:222100 12433644 CDK4 cyclin dependent kinase 4 gene DOID:9970 obesity susceptibility ISO RGD:732061 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:intron:IVS4-40G>A (human) PMID:19634152|REF_RGD_ID:2314609 12433656 DEPDC7 DEP domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1602447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12433656 DEPDC7 DEP domain containing 7 gene DOID:12849 autistic disorder ISO RGD:1602447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 12433656 DEPDC7 DEP domain containing 7 gene DOID:630 genetic disease ISO RGD:1602447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433656 DEPDC7 DEP domain containing 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12433672 TCP1 t-complex 1 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:732136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 12433672 TCP1 t-complex 1 gene DOID:630 genetic disease ISO RGD:732136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433672 TCP1 t-complex 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732136 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 12433688 OVOL2 ovo like zinc finger 2 gene DOID:0110855 posterior polymorphous corneal dystrophy 1 ISO RGD:1314567 D RGD:7240710 20190315 OMIM 12433688 OVOL2 ovo like zinc finger 2 gene DOID:0110855 posterior polymorphous corneal dystrophy 1 ISO RGD:1314567 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1 PMID:16303937|PMID:23049806|PMID:25741868|PMID:26749309|PMID:28492532|PMID:4900143 12433688 OVOL2 ovo like zinc finger 2 gene DOID:5374 pilomatrixoma ISO RGD:1314567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26873447 12433688 OVOL2 ovo like zinc finger 2 gene DOID:630 genetic disease ISO RGD:1314567 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 12433704 SLC13A3 solute carrier family 13 member 3 gene DOID:10283 prostate cancer ISO RGD:69657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:25741868|PMID:28492532 12433704 SLC13A3 solute carrier family 13 member 3 gene DOID:2234 focal epilepsy ISO RGD:69657 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12433704 SLC13A3 solute carrier family 13 member 3 gene DOID:630 genetic disease ISO RGD:69657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12433704 SLC13A3 solute carrier family 13 member 3 gene DOID:9000912 Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate ISO RGD:69657 D RGD:7240710 20200415 OMIM 12433704 SLC13A3 solute carrier family 13 member 3 gene DOID:9000912 Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate ISO RGD:69657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate PMID:17576681|PMID:23265383|PMID:25741868|PMID:28492532|PMID:30635937|PMID:9536098 12433721 CERS6 ceramide synthase 6 gene DOID:0080600 COVID-19 ISO RGD:1343383 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12433721 CERS6 ceramide synthase 6 gene DOID:303 substance-related disorder ISO RGD:1343383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12433721 CERS6 ceramide synthase 6 gene DOID:630 genetic disease ISO RGD:1343383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433736 PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:0050563 nonsyndromic deafness ISO RGD:1317745 D RGD:9068941 20220825 MouseDO 12433736 PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12433736 PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:0111638 autosomal recessive nonsyndromic deafness 100 ISO RGD:1604040 D RGD:7240710 20190605 OMIM 12433736 PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:0111638 autosomal recessive nonsyndromic deafness 100 ISO RGD:1604040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 100 PMID:15538632|PMID:25741868|PMID:29590114 12433736 PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:10283 prostate cancer ISO RGD:1604040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 12433736 PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:630 genetic disease ISO RGD:1604040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433736 PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12433736 PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12433802 ARL15 ADP ribosylation factor like GTPase 15 gene DOID:630 genetic disease ISO RGD:1323226 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433802 ARL15 ADP ribosylation factor like GTPase 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12433825 SLC25A44 solute carrier family 25 member 44 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1605709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 12433825 SLC25A44 solute carrier family 25 member 44 gene DOID:0111940 immunodeficiency 42 ISO RGD:1605709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12433825 SLC25A44 solute carrier family 25 member 44 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12433825 SLC25A44 solute carrier family 25 member 44 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12433825 SLC25A44 solute carrier family 25 member 44 gene DOID:1540 parathyroid carcinoma ISO RGD:1605709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12433825 SLC25A44 solute carrier family 25 member 44 gene DOID:5812 MHC class II deficiency ISO RGD:1605709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12433825 SLC25A44 solute carrier family 25 member 44 gene DOID:630 genetic disease ISO RGD:1605709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433825 SLC25A44 solute carrier family 25 member 44 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12433836 LRRC26 leucine rich repeat containing 26 gene DOID:0050777 Joubert syndrome ISO RGD:1603823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12433836 LRRC26 leucine rich repeat containing 26 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1603823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 12433836 LRRC26 leucine rich repeat containing 26 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1603823 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 12433836 LRRC26 leucine rich repeat containing 26 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1603823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12433836 LRRC26 leucine rich repeat containing 26 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1603823 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12433836 LRRC26 leucine rich repeat containing 26 gene DOID:0081097 Rafiq syndrome ISO RGD:1603823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12433836 LRRC26 leucine rich repeat containing 26 gene DOID:1826 epilepsy ISO RGD:1603823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 12433836 LRRC26 leucine rich repeat containing 26 gene DOID:630 genetic disease ISO RGD:1603823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433836 LRRC26 leucine rich repeat containing 26 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1603823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12433844 KRT73 keratin 73 gene DOID:0050448 white sponge nevus ISO RGD:1342912 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism 12433844 KRT73 keratin 73 gene DOID:0050448 white sponge nevus ISO RGD:1553546 D RGD:9068941 20230202 MouseDO OMIM:193900 | OMIM:615785 12433844 KRT73 keratin 73 gene DOID:0081287 white sponge nevus 1 ISO RGD:1342912 D RGD:7240710 20230201 OMIM 12433844 KRT73 keratin 73 gene DOID:0081287 white sponge nevus 1 ISO RGD:1342912 D RGD:8554872 20230131 ClinVar ClinVar Annotator: match by term: White sponge nevus 1 PMID:10652003|PMID:12828738|PMID:28492532 12433844 KRT73 keratin 73 gene DOID:2773 contact dermatitis ISO RGD:1342912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 12433844 KRT73 keratin 73 gene DOID:630 genetic disease ISO RGD:1342912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12433844 KRT73 keratin 73 gene DOID:9007168 Genetic Skin Diseases susceptibility ISO RGD:1342912 D RGD:9068941 20200609 RGD DNA:deletion: ; white sponge nevus, OMIM:193900 PMID:7493030|REF_RGD_ID:1600193 12433857 SH2D1B SH2 domain containing 1B gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1606747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 12433857 SH2D1B SH2 domain containing 1B gene DOID:1540 parathyroid carcinoma ISO RGD:1606747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12433857 SH2D1B SH2 domain containing 1B gene DOID:630 genetic disease ISO RGD:1606747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433857 SH2D1B SH2 domain containing 1B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12433865 CIMAP1D CIMAP1 family member D gene DOID:630 genetic disease ISO RGD:1321058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433888 FUBP1 far upstream element binding protein 1 gene DOID:0050865 tongue squamous cell carcinoma exacerbates ISO RGD:1344155 D RGD:9068941 20220303 RGD mRNA, protein:increased expression:tongue (human) PMID:32339054|REF_RGD_ID:151361191 12433888 FUBP1 far upstream element binding protein 1 gene DOID:0080199 colorectal carcinoma ISO RGD:1344155 D RGD:9068941 20220303 RGD mRNA, protein:increased expression:colorectum (human) PMID:25030436|REF_RGD_ID:151361190 12433888 FUBP1 far upstream element binding protein 1 gene DOID:0081292 traumatic brain injury ISO RGD:1591892 D RGD:9068941 20200609 RGD PMID:23797733|REF_RGD_ID:13673879 12433888 FUBP1 far upstream element binding protein 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1344155 D RGD:9068941 20220324 RGD mRNA:increased expression:stomach (human) PMID:24192769|REF_RGD_ID:151665342 12433888 FUBP1 far upstream element binding protein 1 gene DOID:10534 stomach cancer treatment ISO RGD:1344155 D RGD:9068941 20220303 RGD PMID:28667493|REF_RGD_ID:151361189 12433888 FUBP1 far upstream element binding protein 1 gene DOID:11446 sciatic neuropathy ISO RGD:1591892 D RGD:9068941 20200609 RGD PMID:23939805|REF_RGD_ID:13673880 12433888 FUBP1 far upstream element binding protein 1 gene DOID:1612 breast cancer exacerbates ISO RGD:1344155 D RGD:9068941 20220303 RGD protein:increased expression:breast (human) PMID:27157613|REF_RGD_ID:151361193 12433888 FUBP1 far upstream element binding protein 1 gene DOID:2152 ovary epithelial cancer ISO RGD:1344155 D RGD:9068941 20220303 RGD protein:increased expression:epithelium of female gonad (human) PMID:30008853|REF_RGD_ID:151361195 12433888 FUBP1 far upstream element binding protein 1 gene DOID:2152 ovary epithelial cancer exacerbates ISO RGD:1344155 D RGD:9068941 20220317 RGD protein:increased expression:epithelium of female gonad (human) PMID:29113212|REF_RGD_ID:151665180 12433888 FUBP1 far upstream element binding protein 1 gene DOID:3007 breast ductal carcinoma ISO RGD:1344155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 12433888 FUBP1 far upstream element binding protein 1 gene DOID:3069 malignant astrocytoma ISO RGD:1344155 D RGD:9068941 20220303 RGD mRNA:increased expression:brain (human) PMID:32481602|REF_RGD_ID:151361197 12433888 FUBP1 far upstream element binding protein 1 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:1344155 D RGD:9068941 20220303 RGD mRNA:increased expression:pancreatic duct (human) PMID:32481602|REF_RGD_ID:151361197 12433888 FUBP1 far upstream element binding protein 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1344155 D RGD:9068941 20220303 RGD mRNA:increased expression:esophagus (human) PMID:32481602|REF_RGD_ID:151361197 12433888 FUBP1 far upstream element binding protein 1 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:1344155 D RGD:9068941 20220303 RGD protein:increased expression:esophagus (human) PMID:26490982|REF_RGD_ID:151361192 12433888 FUBP1 far upstream element binding protein 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1344155 D RGD:9068941 20220303 RGD mRNA:decreased expression:lung (human) PMID:32481602|REF_RGD_ID:151361197 12433888 FUBP1 far upstream element binding protein 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1344155 D RGD:9068941 20220303 RGD mRNA:decreased expression:lung (human) PMID:32481602|REF_RGD_ID:151361197 12433888 FUBP1 far upstream element binding protein 1 gene DOID:5082 liver cirrhosis ISO RGD:1344155 D RGD:9068941 20220303 RGD associated with Chronic Hepatitis C;mRNA:increased expression:liver (human) PMID:25995247|REF_RGD_ID:151361196 12433888 FUBP1 far upstream element binding protein 1 gene DOID:630 genetic disease ISO RGD:1344155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12433888 FUBP1 far upstream element binding protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1344155 D RGD:9068941 20220303 RGD associated with Chronic Hepatitis C;mRNA:increased expression:liver (human) PMID:25995247|REF_RGD_ID:151361196 12433888 FUBP1 far upstream element binding protein 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1344155 D RGD:9068941 20220303 RGD human cell line in a mouse model PMID:19637194|REF_RGD_ID:151361194 12433888 FUBP1 far upstream element binding protein 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1344155 D RGD:9068941 20220303 RGD mRNA:increased expression:liver (human) PMID:31587040|REF_RGD_ID:151361188 12433888 FUBP1 far upstream element binding protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1344155 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35915169 12433888 FUBP1 far upstream element binding protein 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:1344155 D RGD:9068941 20220303 RGD mRNA:increased expression:oral cavity (human) PMID:32481602|REF_RGD_ID:151361197 12433888 FUBP1 far upstream element binding protein 1 gene DOID:9261 nasopharynx carcinoma exacerbates ISO RGD:1344155 D RGD:9068941 20220303 RGD protein:increased expression:nasopharynx (human) PMID:26469968|REF_RGD_ID:11343512 12433953 MGP matrix Gla protein gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:737291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 12433953 MGP matrix Gla protein gene DOID:0080332 bicuspid aortic valve disease ISO RGD:737291 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:19350115 12433953 MGP matrix Gla protein gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:737291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 12433953 MGP matrix Gla protein gene DOID:10286 prostate carcinoma ISO RGD:737291 D RGD:9068941 20200609 RGD mRNA:increased expression:primary tumor; mRNA:decreased expression:metastatic tissue:decreased or absent expression in metastases and cell lines from metastatic tumors PMID:1399132|REF_RGD_ID:2293578 12433953 MGP matrix Gla protein gene DOID:182 calcinosis ISO RGD:737291 D RGD:9068941 20200609 RGD PMID:15045141|REF_RGD_ID:1582501 12433953 MGP matrix Gla protein gene DOID:2349 arteriosclerosis ISO RGD:737291 D RGD:9068941 20200609 RGD PMID:8200973|REF_RGD_ID:1582504 12433953 MGP matrix Gla protein gene DOID:305 carcinoma ISO RGD:737291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 12433953 MGP matrix Gla protein gene DOID:3304 germinoma ISO RGD:737291 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor PMID:1399132|REF_RGD_ID:2293578 12433953 MGP matrix Gla protein gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:737291 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:inversely related to tumor size (0.02510x increase over normal tissue and 87% showed >100x increase PMID:11358798|REF_RGD_ID:2293586 12433953 MGP matrix Gla protein gene DOID:9002991 Keutel Syndrome ISO RGD:737291 D RGD:7240710 20180130 OMIM 12433953 MGP matrix Gla protein gene DOID:9002991 Keutel Syndrome ISO RGD:737291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keutel syndrome PMID:15810001|PMID:25741868|PMID:28492532|PMID:9916809 12433953 MGP matrix Gla protein gene DOID:9003281 Spontaneous Abortions ISO RGD:737291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12433953 MGP matrix Gla protein gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737291 D RGD:9068941 20200609 RGD protein:increased expression:tumor, adjacent dysplastic cervical epithelium:7/8 (88%) cervical squamous cell carcinomas PMID:17960611|REF_RGD_ID:2293584 12433953 MGP matrix Gla protein gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 12433953 MGP matrix Gla protein gene DOID:9006332 Vascular Calcification ISO RGD:737291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21705322 12434067 COL15A1 collagen type XV alpha 1 chain gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1321941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 12434067 COL15A1 collagen type XV alpha 1 chain gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1321941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 12434067 COL15A1 collagen type XV alpha 1 chain gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1321941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 12434067 COL15A1 collagen type XV alpha 1 chain gene DOID:1059 intellectual disability ISO RGD:1321941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12434067 COL15A1 collagen type XV alpha 1 chain gene DOID:12712 nephronophthisis ISO RGD:1321941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 12434067 COL15A1 collagen type XV alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:1321941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 12434067 COL15A1 collagen type XV alpha 1 chain gene DOID:630 genetic disease ISO RGD:1321941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434067 COL15A1 collagen type XV alpha 1 chain gene DOID:684 hepatocellular carcinoma ISO RGD:1321941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 12434067 COL15A1 collagen type XV alpha 1 chain gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 12434118 S100A11 S100 calcium binding protein A11 gene DOID:0080600 COVID-19 ISO RGD:1323591 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 12434118 S100A11 S100 calcium binding protein A11 gene DOID:0111940 immunodeficiency 42 ISO RGD:1323591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 12434118 S100A11 S100 calcium binding protein A11 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1323591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 12434118 S100A11 S100 calcium binding protein A11 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1323591 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 12434118 S100A11 S100 calcium binding protein A11 gene DOID:1540 parathyroid carcinoma ISO RGD:1323591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12434118 S100A11 S100 calcium binding protein A11 gene DOID:5812 MHC class II deficiency ISO RGD:1323591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 12434118 S100A11 S100 calcium binding protein A11 gene DOID:630 genetic disease ISO RGD:1323591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434118 S100A11 S100 calcium binding protein A11 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12434118 S100A11 S100 calcium binding protein A11 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1323591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388789 12434118 S100A11 S100 calcium binding protein A11 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1323591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 12434118 S100A11 S100 calcium binding protein A11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12434129 RUVBL1 RuvB like AAA ATPase 1 gene DOID:0050770 polycystic liver disease ISO RGD:68537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 12434129 RUVBL1 RuvB like AAA ATPase 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:68537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:21670465|PMID:22147895|PMID:23223431|PMID:28492532 12434129 RUVBL1 RuvB like AAA ATPase 1 gene DOID:630 genetic disease ISO RGD:68537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12434129 RUVBL1 RuvB like AAA ATPase 1 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:68537 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 12434129 RUVBL1 RuvB like AAA ATPase 1 gene DOID:9004877 Autosomal Dominant Tubulointerstitial Kidney Disease 5 ISO RGD:68537 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 PMID:25741868|PMID:28492532 12434129 RUVBL1 RuvB like AAA ATPase 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:68537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:21670465|PMID:22147895|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532 12434129 RUVBL1 RuvB like AAA ATPase 1 gene DOID:9270 alkaptonuria ISO RGD:68537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 12434144 DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic gene DOID:0080557 congenital disorder of glycosylation Ie ISO RGD:1320840 D RGD:7240710 20180130 OMIM 12434144 DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic gene DOID:0080557 congenital disorder of glycosylation Ie ISO RGD:1320840 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E PMID:10642597|PMID:10642602|PMID:15669674|PMID:15771971|PMID:16199547|PMID:16641202|PMID:17576681|PMID:23856421|PMID:25640679|PMID:25741868|PMID:26729507|PMID:27481510|PMID:28492532|PMID:30653653|PMID:34015165|PMID:9536098 12434144 DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic gene DOID:1059 intellectual disability ISO RGD:1320840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 12434144 DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic gene DOID:5212 congenital disorder of glycosylation ISO RGD:1320840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 12434144 DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic gene DOID:630 genetic disease ISO RGD:1320840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10642597|PMID:10642602|PMID:23856421|PMID:25741868|PMID:28492532 12434157 TAF4 TATA-box binding protein associated factor 4 gene DOID:630 genetic disease ISO RGD:1345040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434179 SACS sacsin molecular chaperone gene DOID:0050942 spastic ataxia 3 ISO RGD:1316383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive spastic ataxia PMID:20876471|PMID:21450511|PMID:24033266|PMID:24180463|PMID:25741868 12434179 SACS sacsin molecular chaperone gene DOID:0050946 Charlevoix-Saguenay spastic ataxia ISO RGD:1316383 D RGD:7240710 20180130 OMIM 12434179 SACS sacsin molecular chaperone gene DOID:0050946 Charlevoix-Saguenay spastic ataxia ISO RGD:1316383 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia PMID:10053011|PMID:10610707|PMID:10655055|PMID:11788093|PMID:12873855|PMID:14718706|PMID:14718707|PMID:14718708|PMID:15156359|PMID:15486997|PMID:15985586|PMID:16007637|PMID:16198375|PMID:16606928|PMID:16944349|PMID:16961075|PMID:17516465|PMID:17576681|PMID:18414213|PMID:18439928|PMID:18465152|PMID:18484239|PMID:18569450|PMID:18604465|PMID:19208651|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20368637|PMID:20798953|PMID:20852969|PMID:20876471|PMID:21410841|PMID:21450511|PMID:21507954|PMID:21665375|PMID:21745802|PMID:21993619|PMID:22287014|PMID:22307627|PMID:22751902|PMID:22816526|PMID:22892508|PMID:23043354|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23338241|PMID:23497566|PMID:23598833|PMID:24033266|PMID:24108619|PMID:24180463|PMID:24318559|PMID:24384335|PMID:24457356|PMID:25237835|PMID:25260547|PMID:25326637|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25819952|PMID:25887915|PMID:26010040|PMID:26068213|PMID:26288984|PMID:26302956|PMID:26366743|PMID:26410750|PMID:26467025|PMID:26530509|PMID:26539891|PMID:27133561|PMID:27142713|PMID:27217339|PMID:27288452|PMID:27391121|PMID:27433545|PMID:27871429|PMID:27980752|PMID:28251916|PMID:28362824|PMID:28454995|PMID:28491899|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:28972115|PMID:29220673|PMID:29277257|PMID:29379980|PMID:29389947|PMID:29417091|PMID:29453517|PMID:29482223|PMID:29538656|PMID:29858556|PMID:29915382|PMID:29945973|PMID:29968200|PMID:30271475|PMID:30460542|PMID:30638817|PMID:30901567|PMID:31429931|PMID:31475473|PMID:31493945|PMID:31637422|PMID:31673878|PMID:31692161|PMID:31980526|PMID:32140197|PMID:32488064|PMID:32606552|PMID:33624863|PMID:33746006|PMID:34600502|PMID:34758253|PMID:35578252|PMID:35731353|PMID:9536098|PMID:9892370 12434179 SACS sacsin molecular chaperone gene DOID:0050951 hereditary ataxia ISO RGD:1316383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary ataxia PMID:19892370|PMID:23250129|PMID:23280630|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30901567 12434179 SACS sacsin molecular chaperone gene DOID:0050952 spastic ataxia ISO RGD:1316383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:26467025|PMID:28492532 12434179 SACS sacsin molecular chaperone gene DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 ISO RGD:1316383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 PMID:18465152|PMID:20876471|PMID:25741868|PMID:28492532 12434179 SACS sacsin molecular chaperone gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1316383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12434179 SACS sacsin molecular chaperone gene DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C ISO RGD:1316383 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C PMID:18285821|PMID:18398442|PMID:18414213|PMID:19031088|PMID:19208398|PMID:24033266|PMID:24180463|PMID:25741868|PMID:26467025|PMID:28492532 12434179 SACS sacsin molecular chaperone gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ISO RGD:1316383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sarcoglycanopathy PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12434179 SACS sacsin molecular chaperone gene DOID:1826 epilepsy ISO RGD:1316383 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 12434179 SACS sacsin molecular chaperone gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:10610707|PMID:10655055|PMID:11788093|PMID:14718706|PMID:15156359|PMID:18414213|PMID:18465152|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20852969|PMID:20876471|PMID:21507954|PMID:21745802|PMID:22287014|PMID:22307627|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23497566|PMID:24108619|PMID:24457356|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25887915|PMID:26302956|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27433545|PMID:27980752|PMID:28251916|PMID:28454995|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:29220673|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:30680480|PMID:31637422|PMID:31673878|PMID:33624863 12434179 SACS sacsin molecular chaperone gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316383 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:10610707|PMID:10655055|PMID:11788093|PMID:14718706|PMID:15156359|PMID:18414213|PMID:18465152|PMID:19779133|PMID:20301432|PMID:20852969|PMID:20876471|PMID:21507954|PMID:22287014|PMID:22307627|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23497566|PMID:24108619|PMID:24457356|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25887915|PMID:26302956|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27433545|PMID:27980752|PMID:28251916|PMID:28454995|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:29220673|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:30460542|PMID:30638817|PMID:30680480|PMID:30901567|PMID:31637422|PMID:31673878|PMID:33624863 12434179 SACS sacsin molecular chaperone gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:10610707|PMID:10655055|PMID:11788093|PMID:14718706|PMID:15156359|PMID:18414213|PMID:18465152|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20852969|PMID:20876471|PMID:21507954|PMID:21745802|PMID:22287014|PMID:22307627|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23497566|PMID:24108619|PMID:24457356|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25887915|PMID:26302956|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27288452|PMID:27433545|PMID:27871429|PMID:27980752|PMID:28251916|PMID:28454995|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:29220673|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:30271475|PMID:30460542|PMID:30638817|PMID:30901567|PMID:31637422|PMID:31673878|PMID:33624863 12434179 SACS sacsin molecular chaperone gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316383 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:10610707|PMID:10655055|PMID:11788093|PMID:14718706|PMID:15156359|PMID:18414213|PMID:18465152|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20852969|PMID:20876471|PMID:21507954|PMID:21745802|PMID:22287014|PMID:22307627|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23497566|PMID:24108619|PMID:24457356|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25887915|PMID:26302956|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27288452|PMID:27433545|PMID:27871429|PMID:27980752|PMID:28251916|PMID:28454995|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:29220673|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:30271475|PMID:30460542|PMID:30638817|PMID:30901567|PMID:31637422|PMID:31673878|PMID:33624863|PMID:34600502 12434179 SACS sacsin molecular chaperone gene DOID:2661 myoepithelioma ISO RGD:1316383 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 12434179 SACS sacsin molecular chaperone gene DOID:5419 schizophrenia ISO RGD:1316383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12434179 SACS sacsin molecular chaperone gene DOID:607 paraplegia ISO RGD:1316383 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10053011|PMID:10610707|PMID:10655055|PMID:11788093|PMID:12873855|PMID:14718706|PMID:14718707|PMID:15156359|PMID:15486997|PMID:16007637|PMID:16198375|PMID:16199547|PMID:16944349|PMID:17290461|PMID:17516465|PMID:17576681|PMID:18285821|PMID:18398442|PMID:18414213|PMID:18439928|PMID:18465152|PMID:18604465|PMID:19031088|PMID:19208398|PMID:19208651|PMID:19763152|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20307669|PMID:20368637|PMID:20798953|PMID:20852969|PMID:20876471|PMID:21410841|PMID:21416271|PMID:21507954|PMID:21665375|PMID:21745802|PMID:21993619|PMID:22287014|PMID:22307627|PMID:22406018|PMID:22816526|PMID:23043354|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23338241|PMID:23497566|PMID:23785480|PMID:24033266|PMID:24108619|PMID:24164681|PMID:24180463|PMID:24457356|PMID:25260547|PMID:25326637|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25819952|PMID:25887915|PMID:26068213|PMID:26288984|PMID:26302956|PMID:26366743|PMID:26410750|PMID:26467025|PMID:26530509|PMID:26539891|PMID:27133561|PMID:27142713|PMID:27217339|PMID:27288452|PMID:27391121|PMID:27433545|PMID:27600236|PMID:27871429|PMID:27980752|PMID:28251916|PMID:28330790|PMID:28454995|PMID:28491899|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:28972115|PMID:29093530|PMID:29220673|PMID:29277257|PMID:29321516|PMID:29379980|PMID:29389947|PMID:29417091|PMID:29449188|PMID:29453517|PMID:29482223|PMID:29538656|PMID:29858556|PMID:29915382|PMID:29945973|PMID:29968200|PMID:30271475|PMID:30460542|PMID:30638817|PMID:30901567|PMID:31230722|PMID:31429931|PMID:31475473|PMID:31493945|PMID:31637422|PMID:31673878|PMID:31692161|PMID:31980526|PMID:32140197|PMID:32488064|PMID:32581362|PMID:32606552|PMID:33414805|PMID:33624863|PMID:33746006|PMID:34600502|PMID:34758253|PMID:35578252|PMID:35731353|PMID:9536098|PMID:9892370 12434179 SACS sacsin molecular chaperone gene DOID:630 genetic disease ISO RGD:1316383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15156359|PMID:18465152|PMID:19779133|PMID:19892370|PMID:20488193|PMID:21507954|PMID:21745802|PMID:23123642|PMID:23280630|PMID:23497566|PMID:24108619|PMID:25741868|PMID:25819952|PMID:26288984|PMID:26467025|PMID:27288452|PMID:28491899|PMID:28492532|PMID:28658401|PMID:29538656|PMID:29915382|PMID:31493945|PMID:33624863|PMID:33746006|PMID:35578252 12434179 SACS sacsin molecular chaperone gene DOID:891 progressive myoclonus epilepsy ISO RGD:1316383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 12434179 SACS sacsin molecular chaperone gene DOID:9009163 ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION ISO RGD:1316383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation PMID:15156359|PMID:21507954|PMID:25741868|PMID:28492532|PMID:30460542|PMID:31692161 12434179 SACS sacsin molecular chaperone gene DOID:9277 primary cerebellar degeneration ISO RGD:1316383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary ataxia PMID:19892370|PMID:23250129|PMID:23280630|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30901567 12434198 SUV39H2 SUV39H2 histone lysine methyltransferase gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1315884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12434198 SUV39H2 SUV39H2 histone lysine methyltransferase gene DOID:0080915 histiocytic sarcoma ISO RGD:1315884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Histiocytic medullary reticulosis PMID:25741868 12434198 SUV39H2 SUV39H2 histone lysine methyltransferase gene DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation ISO RGD:1315884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency PMID:25741868|PMID:28492532 12434198 SUV39H2 SUV39H2 histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1315884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434198 SUV39H2 SUV39H2 histone lysine methyltransferase gene DOID:9000954 Parakeratosis IAGP D RGD:12801476 20210603 OMIA Nasal parakeratosis PMID:12662268|PMID:12895224|PMID:24098150|PMID:29423952|PMID:32119674 12434228 SLC39A10 solute carrier family 39 member 10 gene DOID:630 genetic disease ISO RGD:1316445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434228 SLC39A10 solute carrier family 39 member 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12434228 SLC39A10 solute carrier family 39 member 10 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17359283 12434240 VWA3A von Willebrand factor A domain containing 3A gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:1641961 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5 PMID:25741868 12434240 VWA3A von Willebrand factor A domain containing 3A gene DOID:11054 urinary bladder cancer ISO RGD:1641961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 12434240 VWA3A von Willebrand factor A domain containing 3A gene DOID:12849 autistic disorder ISO RGD:1641961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12434240 VWA3A von Willebrand factor A domain containing 3A gene DOID:5419 schizophrenia ISO RGD:1641961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12434240 VWA3A von Willebrand factor A domain containing 3A gene DOID:630 genetic disease ISO RGD:1641961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434290 MMD monocyte to macrophage differentiation associated gene DOID:630 genetic disease ISO RGD:1346726 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434290 MMD monocyte to macrophage differentiation associated gene DOID:9074 systemic lupus erythematosus ISO RGD:1346726 D RGD:9068941 20221027 RGD associated with Pregnancy Complications;mRNA:increased expression:blood (human) PMID:31684818|REF_RGD_ID:155630630 12434301 NFKBID NFKB inhibitor delta gene DOID:0081154 common variable immunodeficiency 12 ISO RGD:1603004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 12434301 NFKBID NFKB inhibitor delta gene DOID:0110222 Brugada syndrome 5 ISO RGD:1603004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 12434301 NFKBID NFKB inhibitor delta gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 12434301 NFKBID NFKB inhibitor delta gene DOID:630 genetic disease ISO RGD:1603004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434320 OR51E1 olfactory receptor family 51 subfamily E member 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1605574 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12434320 OR51E1 olfactory receptor family 51 subfamily E member 1 gene DOID:303 substance-related disorder ISO RGD:1605574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12434320 OR51E1 olfactory receptor family 51 subfamily E member 1 gene DOID:630 genetic disease ISO RGD:1605574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434324 KIF3B kinesin family member 3B gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1315643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency PMID:28492532 12434324 KIF3B kinesin family member 3B gene DOID:0112146 retinitis pigmentosa 89 ISO RGD:1315643 D RGD:7240710 20200722 OMIM 12434324 KIF3B kinesin family member 3B gene DOID:0112146 retinitis pigmentosa 89 ISO RGD:1315643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 89 PMID:32386558 12434324 KIF3B kinesin family member 3B gene DOID:14228 oligospermia ISO RGD:1315643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligospermia 12434324 KIF3B kinesin family member 3B gene DOID:5419 schizophrenia ISO RGD:1315644 D RGD:9068941 20220825 MouseDO OMIM:181500 12434324 KIF3B kinesin family member 3B gene DOID:630 genetic disease ISO RGD:1315643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434324 KIF3B kinesin family member 3B gene DOID:9000039 Spinal Cord Injuries ISO RGD:1306815 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:23093447|REF_RGD_ID:11049594 12434340 SMAD9 SMAD family member 9 gene DOID:10283 prostate cancer ISO RGD:1350114 D RGD:9068941 20200609 RGD protein:altered localization PMID:15042598|REF_RGD_ID:2299981 12434340 SMAD9 SMAD family member 9 gene DOID:1324 lung cancer ISO RGD:1350114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:21515830|PMID:24465803|PMID:26253951 12434340 SMAD9 SMAD family member 9 gene DOID:14557 primary pulmonary hypertension ISO RGD:1350114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12434340 SMAD9 SMAD family member 9 gene DOID:14557 primary pulmonary hypertension ISO RGD:733518 D RGD:9068941 20220825 MouseDO OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 12434340 SMAD9 SMAD family member 9 gene DOID:630 genetic disease ISO RGD:1350114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12434340 SMAD9 SMAD family member 9 gene DOID:6432 pulmonary hypertension ISO RGD:71004 D RGD:9068941 20200609 RGD PMID:17347486|REF_RGD_ID:1643222 12434340 SMAD9 SMAD family member 9 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1350114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:25741868|PMID:28492532|PMID:30029678 12434340 SMAD9 SMAD family member 9 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:71004 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypoglossal nucleus PMID:17166487|REF_RGD_ID:1643227 12434340 SMAD9 SMAD family member 9 gene DOID:9003493 Primary Pulmonary Hypertension, 2 ISO RGD:1350114 D RGD:7240710 20180130 OMIM 12434340 SMAD9 SMAD family member 9 gene DOID:9003493 Primary Pulmonary Hypertension, 2 ISO RGD:1350114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 2 PMID:16199547|PMID:17576681|PMID:19211612|PMID:19419974|PMID:21898662|PMID:21920918|PMID:24033266|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29631995|PMID:30029678|PMID:31727138|PMID:9536098 12434340 SMAD9 SMAD family member 9 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 12434340 SMAD9 SMAD family member 9 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1350114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 12434382 PRMT8 protein arginine methyltransferase 8 gene DOID:630 genetic disease ISO RGD:1605979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434382 PRMT8 protein arginine methyltransferase 8 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 12434397 IL15RA interleukin 15 receptor subunit alpha gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1313009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 12434397 IL15RA interleukin 15 receptor subunit alpha gene DOID:5419 schizophrenia ISO RGD:1313009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12434397 IL15RA interleukin 15 receptor subunit alpha gene DOID:630 genetic disease ISO RGD:1313009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434397 IL15RA interleukin 15 receptor subunit alpha gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1313009 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 12434397 IL15RA interleukin 15 receptor subunit alpha gene DOID:9001488 Human Influenza ISO RGD:1313010 D RGD:9068941 20200609 RGD PMID:21098221|REF_RGD_ID:4994196 12434397 IL15RA interleukin 15 receptor subunit alpha gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1313010 D RGD:9068941 20200609 RGD PMID:17611121|REF_RGD_ID:5000755 12434407 MINDY2 MINDY lysine 48 deubiquitinase 2 gene DOID:2717 Bloom syndrome ISO RGD:1607025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12434407 MINDY2 MINDY lysine 48 deubiquitinase 2 gene DOID:630 genetic disease ISO RGD:1607025 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434407 MINDY2 MINDY lysine 48 deubiquitinase 2 gene DOID:9256 colorectal cancer ISO RGD:1607025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12434421 PARL presenilin associated rhomboid like gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1314669 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12434421 PARL presenilin associated rhomboid like gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1314669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 12434421 PARL presenilin associated rhomboid like gene DOID:0111546 Currarino syndrome ISO RGD:1314669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 12434421 PARL presenilin associated rhomboid like gene DOID:1024 leprosy ISO RGD:1314669 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 12434421 PARL presenilin associated rhomboid like gene DOID:11830 myopia ISO RGD:1314669 D RGD:9068941 20200609 RGD DNA:snp:intron:c.511+3941G>A (rs6775202)(human) PMID:18846214|REF_RGD_ID:12902630 12434421 PARL presenilin associated rhomboid like gene DOID:2018 hyperinsulinism ISO RGD:1314669 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L262V (human) PMID:15729572|REF_RGD_ID:12880443 12434421 PARL presenilin associated rhomboid like gene DOID:2018 hyperinsulinism no_association ISO RGD:1314669 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L262V (human) PMID:19185381|REF_RGD_ID:12880445 12434421 PARL presenilin associated rhomboid like gene DOID:224 transient cerebral ischemia severity ISO RGD:1550418 D RGD:9068941 20200609 RGD PMID:23921894|REF_RGD_ID:12902620 12434421 PARL presenilin associated rhomboid like gene DOID:3393 coronary artery disease susceptibility ISO RGD:1314669 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L262V (human) PMID:18758826|REF_RGD_ID:12902623 12434421 PARL presenilin associated rhomboid like gene DOID:3459 breast carcinoma severity ISO RGD:1314669 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:24185965|REF_RGD_ID:12902629 12434421 PARL presenilin associated rhomboid like gene DOID:3652 Leigh disease ISO RGD:1550418 D RGD:9068941 20220825 MouseDO OMIM:220111 | OMIM:256000 12434421 PARL presenilin associated rhomboid like gene DOID:630 genetic disease ISO RGD:1314669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434421 PARL presenilin associated rhomboid like gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1314669 D RGD:9068941 20200609 RGD DNA:snps:introns:c.126-157G>A (rs3749446), c.321+112A>G (rs1402000) (human) PMID:20407791|REF_RGD_ID:12902617 12434421 PARL presenilin associated rhomboid like gene DOID:705 Leber hereditary optic neuropathy no_association ISO RGD:1314669 D RGD:9068941 20200609 RGD DNA:snps:introns:c.126-157G>A (rs3749446), c.321+112A>G (rs1402000) (human) PMID:20711738|REF_RGD_ID:12902618 12434421 PARL presenilin associated rhomboid like gene DOID:9007346 Cachexia ISO RGD:1550418 D RGD:9068941 20200609 RGD PMID:16839884|REF_RGD_ID:12902627 12434421 PARL presenilin associated rhomboid like gene DOID:9007692 Insulin Resistance ISO RGD:1306191 D RGD:9068941 20200609 RGD mRNA:decreased expression:gastrocnemius (rat) PMID:19859837|REF_RGD_ID:12880442 12434421 PARL presenilin associated rhomboid like gene DOID:9352 type 2 diabetes mellitus ISO RGD:1314669 D RGD:9068941 20200609 RGD mRNA:decreased expression:vastus lateralis (human) PMID:20444421|REF_RGD_ID:12902628 12434421 PARL presenilin associated rhomboid like gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:1314669 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L262V (human) PMID:19185381|REF_RGD_ID:12880445 12434435 PRPF4B pre-mRNA processing factor 4B gene DOID:630 genetic disease ISO RGD:1317177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:732624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:732624 D RGD:9068941 20220715 RGD mRNA:increased expression:oral cavity (human) PMID:29286141|REF_RGD_ID:152999009 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:732624 D RGD:9068941 20220721 RGD protein:increased expression:oral cavity (human) PMID:20967871|REF_RGD_ID:152999012 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:0050866 oral squamous cell carcinoma ameliorates ISO RGD:732624 D RGD:9068941 20220714 RGD protein:decreased expression:oral cavity (human) PMID:21952624|REF_RGD_ID:152998987 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:732624 D RGD:9068941 20220714 RGD protein:increased expression:oral cavity (human) PMID:23852810|REF_RGD_ID:152998980 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue treatment ISO RGD:732624 D RGD:9068941 20220811 RGD DNA:gene fusion: (human) PMID:21465313|REF_RGD_ID:153305955 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:0060108 brain glioma exacerbates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:brain (human) PMID:31964418|REF_RGD_ID:153344516 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:0080199 colorectal carcinoma ameliorates ISO RGD:732624 D RGD:9068941 20220715 RGD human cell line in a mouse model PMID:30630498|REF_RGD_ID:152999008 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:732624 D RGD:9068941 20220728 RGD protein:increased expression:liver (human) PMID:29307797|REF_RGD_ID:153297819 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:1059 intellectual disability ISO RGD:732624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:11054 urinary bladder cancer ISO RGD:732624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12926068 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:1240 leukemia ISO RGD:732624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12970779 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:12704 ataxia telangiectasia ISO RGD:732624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:1996 rectum adenocarcinoma ameliorates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:rectum (human) PMID:31964418|REF_RGD_ID:153344516 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:219 colon cancer disease_progression ISO RGD:732624 D RGD:9068941 20220714 RGD protein:increased expression:colon (human) PMID:22751125|REF_RGD_ID:152998979 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:3068 glioblastoma exacerbates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:brain (human) PMID:31964418|REF_RGD_ID:153344516 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:3459 breast carcinoma ameliorates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:breast (human) PMID:31964418|REF_RGD_ID:153344516 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:stomach (human) PMID:31964418|REF_RGD_ID:153344516 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:732624 D RGD:9068941 20220728 RGD DNA:SNP:intron: (rs11225211) (human) PMID:32905523|REF_RGD_ID:153297804 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:732624 D RGD:9068941 20220715 RGD protein:increased expression:lung (human) PMID:20959404|PMID:27737687|REF_RGD_ID:152998985|REF_RGD_ID:152999005 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:732624 D RGD:9068941 20220811 RGD mRNA:increased expression:B cell (human) PMID:33098370|REF_RGD_ID:153323293 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:3948 adrenocortical carcinoma ameliorates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland (human) PMID:31964418|REF_RGD_ID:153344516 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:3963 thyroid gland carcinoma disease_progression ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:thyroid gland (human) PMID:31964418|REF_RGD_ID:153344516 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:4074 pancreatic adenocarcinoma disease_progression ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:pancreas (human) PMID:31964418|REF_RGD_ID:153344516 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:4450 renal cell carcinoma ISO RGD:732624 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney PMID:17154176|REF_RGD_ID:1643526 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:4465 papillary renal cell carcinoma exacerbates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:4914 esophagus adenocarcinoma treatment ISO RGD:732624 D RGD:9068941 20220715 RGD PMID:26291056|REF_RGD_ID:152999007 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:4948 gallbladder carcinoma exacerbates ISO RGD:732624 D RGD:9068941 20220728 RGD mRNA:increased expression:gall bladder (human) PMID:28295868|REF_RGD_ID:153297817 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:5520 head and neck squamous cell carcinoma ameliorates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:head or neck skin (human) PMID:31964418|REF_RGD_ID:153344516 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:5746 ovarian serous cystadenocarcinoma exacerbates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:ovary (human) PMID:31964418|REF_RGD_ID:153344516 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:630 genetic disease ISO RGD:732624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:732624 D RGD:9068941 20220714 RGD human cell line in a mouse model PMID:30368883|PMID:33310033|REF_RGD_ID:152998937|REF_RGD_ID:152998988 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:732624 D RGD:9068941 20220714 RGD associated with hepatitis B;mRNA, protein:increased expression:liver (human) PMID:22682366|REF_RGD_ID:152998984 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:732624 D RGD:9068941 20220714 RGD mRNA, protein:increased expression:liver (human) PMID:22820591|REF_RGD_ID:152998986 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:732624 D RGD:9068941 20220715 RGD human cell line in a mouse model PMID:30210622|REF_RGD_ID:152999010 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:769 neuroblastoma ISO RGD:732624 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9000099 Experimental Colitis exacerbates ISO RGD:733266 D RGD:9068941 20220728 RGD PMID:26037070|REF_RGD_ID:11537970 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9000918 Disease Progression ISO RGD:732624 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9002846 bowenoid papulosis ISO RGD:732624 D RGD:9068941 20220714 RGD mRNA:increased expression:perianal skin (human) PMID:20346172|REF_RGD_ID:152998971 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9003566 Mesothelioma ameliorates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:mesothelium (human) PMID:31964418|REF_RGD_ID:153344516 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9003654 Testicular Germ Cell Tumor exacerbates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:testis (human) PMID:31964418|REF_RGD_ID:153344516 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9004831 Colitis-Associated Neoplasms ameliorates ISO RGD:733266 D RGD:9068941 20220728 RGD PMID:26037070|REF_RGD_ID:11537970 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9004831 Colitis-Associated Neoplasms disease_progression ISO RGD:732624 D RGD:9068941 20220811 RGD mRNA:increased expression:colonic mucosa (human) PMID:23388545|REF_RGD_ID:153323294 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:732624 D RGD:9068941 20220728 RGD protein:increased expression:liver (human) PMID:29307797|REF_RGD_ID:153297819 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9008114 Helicobacter Infections treatment ISO RGD:732624 D RGD:9068941 20220728 RGD associated with stomach cancer PMID:27282269|REF_RGD_ID:153297818 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9008114 Helicobacter Infections treatment ISO RGD:732624 D RGD:9068941 20220811 RGD associated with MALT lymphoma;DNA:gene fusion: (human) PMID:11398794|REF_RGD_ID:153305954 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9008163 Chronic Hepatitis B ameliorates ISO RGD:733266 D RGD:9068941 20220707 RGD PMID:25902529|REF_RGD_ID:152998939 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9256 colorectal cancer ISO RGD:732624 D RGD:9068941 20220721 RGD protein:increased expression:colorectal mucosa, cytoplasm (human) PMID:30653121|REF_RGD_ID:152999015 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9256 colorectal cancer exacerbates ISO RGD:732624 D RGD:9068941 20220811 RGD mRNA:increased expression:colorectum (human) PMID:34389694|REF_RGD_ID:153305952 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9256 colorectal cancer exacerbates ISO RGD:732624 D RGD:9068941 20220825 RGD mRNA:decreased expression:colonic mucosa (human) PMID:27827395|REF_RGD_ID:153344527 12434492 BIRC3 baculoviral IAP repeat containing 3 gene DOID:9452 fatty liver disease ISO RGD:732624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 12434515 HES4 hes family bHLH transcription factor 4 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1354442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12434515 HES4 hes family bHLH transcription factor 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1354442 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 12434515 HES4 hes family bHLH transcription factor 4 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1354442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12434515 HES4 hes family bHLH transcription factor 4 gene DOID:0111934 immunodeficiency 38 ISO RGD:1354442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12434515 HES4 hes family bHLH transcription factor 4 gene DOID:0111935 immunodeficiency 16 ISO RGD:1354442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12434515 HES4 hes family bHLH transcription factor 4 gene DOID:630 genetic disease ISO RGD:1354442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434515 HES4 hes family bHLH transcription factor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12434515 HES4 hes family bHLH transcription factor 4 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1354442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 12434524 TPST1 tyrosylprotein sulfotransferase 1 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1318261 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs3757417) G>T (human) PMID:27354594|REF_RGD_ID:152177496 12434524 TPST1 tyrosylprotein sulfotransferase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318261 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 12434524 TPST1 tyrosylprotein sulfotransferase 1 gene DOID:0080600 COVID-19 ISO RGD:1318261 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12434524 TPST1 tyrosylprotein sulfotransferase 1 gene DOID:14755 argininosuccinic aciduria ISO RGD:1318261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:28492532 12434524 TPST1 tyrosylprotein sulfotransferase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12434524 TPST1 tyrosylprotein sulfotransferase 1 gene DOID:630 genetic disease ISO RGD:1318261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434533 COPZ2 COPI coat complex subunit zeta 2 gene DOID:630 genetic disease ISO RGD:1315851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434550 RBMX2 RNA binding motif protein X-linked 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 12434550 RBMX2 RNA binding motif protein X-linked 2 gene DOID:12849 autistic disorder ISO RGD:1345969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12434550 RBMX2 RNA binding motif protein X-linked 2 gene DOID:630 genetic disease ISO RGD:1345969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434560 TMEM241 transmembrane protein 241 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1351617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 12434560 TMEM241 transmembrane protein 241 gene DOID:1059 intellectual disability ISO RGD:1351617 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12434560 TMEM241 transmembrane protein 241 gene DOID:630 genetic disease ISO RGD:1351617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434582 SAP30 Sin3A associated protein 30 gene DOID:0080600 COVID-19 ISO RGD:1354225 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12434582 SAP30 Sin3A associated protein 30 gene DOID:630 genetic disease ISO RGD:1354225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434582 SAP30 Sin3A associated protein 30 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12434645 MOSMO modulator of smoothened gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:2302534 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5 PMID:25741868 12434645 MOSMO modulator of smoothened gene DOID:12849 autistic disorder ISO RGD:2302534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12434645 MOSMO modulator of smoothened gene DOID:5419 schizophrenia ISO RGD:2302534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12434652 NR2C2AP nuclear receptor 2C2 associated protein gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1606467 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 12434652 NR2C2AP nuclear receptor 2C2 associated protein gene DOID:5812 MHC class II deficiency ISO RGD:1606467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:25741868|PMID:28492532 12434652 NR2C2AP nuclear receptor 2C2 associated protein gene DOID:630 genetic disease ISO RGD:1606467 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12434652 NR2C2AP nuclear receptor 2C2 associated protein gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1606467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 12434661 CYREN cell cycle regulator of NHEJ gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12434661 CYREN cell cycle regulator of NHEJ gene DOID:630 genetic disease ISO RGD:1602100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434678 DDX43 DEAD-box helicase 43 gene DOID:3659 sialuria ISO RGD:1345973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 12434678 DDX43 DEAD-box helicase 43 gene DOID:630 genetic disease ISO RGD:1345973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434702 OR5AP2 olfactory receptor family 5 subfamily AP member 2 gene DOID:1059 intellectual disability ISO RGD:1350041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 12434702 OR5AP2 olfactory receptor family 5 subfamily AP member 2 gene DOID:630 genetic disease ISO RGD:1350041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434707 DGLUCY D-glutamate cyclase gene DOID:0080054 achondrogenesis type IA ISO RGD:1323376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 12434707 DGLUCY D-glutamate cyclase gene DOID:630 genetic disease ISO RGD:1323376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434722 PTGER1 prostaglandin E receptor 1 gene DOID:10808 gastric ulcer treatment ISO RGD:3434 D RGD:9068941 20200609 RGD PMID:10807413|REF_RGD_ID:10043357 12434722 PTGER1 prostaglandin E receptor 1 gene DOID:10808 gastric ulcer treatment ISO RGD:735522 D RGD:9068941 20200609 RGD PMID:10807413|REF_RGD_ID:10043357 12434722 PTGER1 prostaglandin E receptor 1 gene DOID:11111 hydronephrosis ISO RGD:733054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30641090 12434722 PTGER1 prostaglandin E receptor 1 gene DOID:1749 squamous cell carcinoma ISO RGD:733054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21739481 12434722 PTGER1 prostaglandin E receptor 1 gene DOID:1876 sexual dysfunction ISO RGD:733054 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18726914 12434722 PTGER1 prostaglandin E receptor 1 gene DOID:299 adenocarcinoma ISO RGD:733054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11751431 12434722 PTGER1 prostaglandin E receptor 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:733054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11751431 12434722 PTGER1 prostaglandin E receptor 1 gene DOID:630 genetic disease ISO RGD:733054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434722 PTGER1 prostaglandin E receptor 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11751431 12434722 PTGER1 prostaglandin E receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:733054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11375261 12434722 PTGER1 prostaglandin E receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11751431 12434729 PRRT4 proline rich transmembrane protein 4 gene DOID:0080600 COVID-19 ISO RGD:3051273 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 12434729 PRRT4 proline rich transmembrane protein 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:3051273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12434729 PRRT4 proline rich transmembrane protein 4 gene DOID:630 genetic disease ISO RGD:3051273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434741 RAPGEF2 Rap guanine nucleotide exchange factor 2 gene DOID:0111694 familial adult myoclonic epilepsy 7 ISO RGD:1315047 D RGD:7240710 20190315 OMIM 12434741 RAPGEF2 Rap guanine nucleotide exchange factor 2 gene DOID:0111694 familial adult myoclonic epilepsy 7 ISO RGD:1315047 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 7 PMID:25741868 12434741 RAPGEF2 Rap guanine nucleotide exchange factor 2 gene DOID:630 genetic disease ISO RGD:1315047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434741 RAPGEF2 Rap guanine nucleotide exchange factor 2 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1315047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29507423 12434800 MIR425 microRNA mir-425 gene DOID:3770 pulmonary fibrosis ISO RGD:1352547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 12434800 MIR425 microRNA mir-425 gene DOID:657 adenoma ISO RGD:1352547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 12434845 SMIM22 small integral membrane protein 22 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:7247217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12434845 SMIM22 small integral membrane protein 22 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:7247217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 12434845 SMIM22 small integral membrane protein 22 gene DOID:1826 epilepsy ISO RGD:7247217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12434845 SMIM22 small integral membrane protein 22 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:7247217 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12434845 SMIM22 small integral membrane protein 22 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:7247217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 12434876 CFDP1 craniofacial development protein 1 gene DOID:2565 macular corneal dystrophy ISO RGD:1346060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 12434876 CFDP1 craniofacial development protein 1 gene DOID:607 paraplegia ISO RGD:1346060 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 12434876 CFDP1 craniofacial development protein 1 gene DOID:630 genetic disease ISO RGD:1346060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434887 RPP21 ribonuclease P/MRP subunit p21 gene DOID:11372 megacolon ISO RGD:1346051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12434887 RPP21 ribonuclease P/MRP subunit p21 gene DOID:630 genetic disease ISO RGD:1346051 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434907 ABCF1 ATP binding cassette subfamily F member 1 gene DOID:11372 megacolon ISO RGD:734018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12434907 ABCF1 ATP binding cassette subfamily F member 1 gene DOID:1205 allergic disease ISO RGD:734018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12434907 ABCF1 ATP binding cassette subfamily F member 1 gene DOID:2843 long QT syndrome ISO RGD:734018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 12434907 ABCF1 ATP binding cassette subfamily F member 1 gene DOID:552 pneumonia ISO RGD:734018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 12434907 ABCF1 ATP binding cassette subfamily F member 1 gene DOID:630 genetic disease ISO RGD:734018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434907 ABCF1 ATP binding cassette subfamily F member 1 gene DOID:9000918 Disease Progression ISO RGD:734018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 12434935 TAF2 TATA-box binding protein associated factor 2 gene DOID:0081205 autosomal recessive intellectual developmental disorder 40 ISO RGD:1353856 D RGD:7240710 20180130 OMIM 12434935 TAF2 TATA-box binding protein associated factor 2 gene DOID:0081205 autosomal recessive intellectual developmental disorder 40 ISO RGD:1353856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 40 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES, THIN CORPUS CALLOSUM, AND FOOT DEFORMITY PMID:18414213|PMID:21937992|PMID:22633631|PMID:24084144|PMID:25741868|PMID:26757139|PMID:28492532|PMID:34474177 12434935 TAF2 TATA-box binding protein associated factor 2 gene DOID:1059 intellectual disability ISO RGD:1353856 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 12434935 TAF2 TATA-box binding protein associated factor 2 gene DOID:10907 microcephaly ISO RGD:1353856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12434935 TAF2 TATA-box binding protein associated factor 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1353856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12434935 TAF2 TATA-box binding protein associated factor 2 gene DOID:206 hereditary multiple exostoses ISO RGD:1353856 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 12434935 TAF2 TATA-box binding protein associated factor 2 gene DOID:630 genetic disease ISO RGD:1353856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12434976 NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase gene DOID:0070008 Seckel syndrome 10 ISO RGD:1606915 D RGD:7240710 20190315 OMIM 12434976 NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase gene DOID:0070008 Seckel syndrome 10 ISO RGD:1606915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome 10 PMID:25105364|PMID:25741868|PMID:26443207|PMID:28492532 12434976 NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:1606915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:28492532 12434976 NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1606915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12434976 NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase gene DOID:2717 Bloom syndrome ISO RGD:1331905 D RGD:9068941 20220825 MouseDO OMIM:210900 12434976 NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase gene DOID:630 genetic disease ISO RGD:1606915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12434976 NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase gene DOID:9008086 Developmental Disabilities ISO RGD:1606915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12434988 PXK PX domain containing serine/threonine kinase like gene DOID:630 genetic disease ISO RGD:1348394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12434988 PXK PX domain containing serine/threonine kinase like gene DOID:7148 rheumatoid arthritis ISO RGD:1348394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842 12434988 PXK PX domain containing serine/threonine kinase like gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1348394 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 12434988 PXK PX domain containing serine/threonine kinase like gene DOID:9074 systemic lupus erythematosus ISO RGD:1348394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18204446 12435050 TDRD5 tudor domain containing 5 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1316056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 12435050 TDRD5 tudor domain containing 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1316056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12435050 TDRD5 tudor domain containing 5 gene DOID:630 genetic disease ISO RGD:1316056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435050 TDRD5 tudor domain containing 5 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1316056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12435050 TDRD5 tudor domain containing 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12435084 UBTF upstream binding transcription factor gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:734082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 12435084 UBTF upstream binding transcription factor gene DOID:630 genetic disease ISO RGD:734082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28191890|PMID:28777933|PMID:29300972|PMID:30517966|PMID:31931739|PMID:33026538 12435084 UBTF upstream binding transcription factor gene DOID:9003936 Cardiomegaly ISO RGD:737074 D RGD:9068941 20200609 RGD PMID:12885411|REF_RGD_ID:1580791 12435084 UBTF upstream binding transcription factor gene DOID:9008006 Childhood-Onset Neurodegeneration with Brain Atrophy ISO RGD:734082 D RGD:7240710 20190315 OMIM 12435084 UBTF upstream binding transcription factor gene DOID:9008006 Childhood-Onset Neurodegeneration with Brain Atrophy ISO RGD:734082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | ClinVar Annotator: match by term: UBTF-Related Disorder PMID:24033266|PMID:25741868|PMID:28191890|PMID:28777933|PMID:29300972|PMID:30517966|PMID:31931739|PMID:33026538 12435104 GCGR glucagon receptor gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69010 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532|PMID:7773293|PMID:8563746 12435104 GCGR glucagon receptor gene DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 ISO RGD:69010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20529775 12435104 GCGR glucagon receptor gene DOID:0112306 Mahvash disease ISO RGD:69010 D RGD:7240710 20210602 OMIM 12435104 GCGR glucagon receptor gene DOID:0112306 Mahvash disease ISO RGD:69010 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GCGR-related hyperglucagonemia PMID:19657311|PMID:25695890|PMID:25741868|PMID:27933176|PMID:30032256|PMID:32785645 12435104 GCGR glucagon receptor gene DOID:630 genetic disease ISO RGD:69010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12435104 GCGR glucagon receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:69010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532|PMID:7773293|PMID:8563746 12435122 KLK5 kallikrein related peptidase 5 gene DOID:630 genetic disease ISO RGD:1320514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435122 KLK5 kallikrein related peptidase 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320514 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16517595 12435137 GSK3A glycogen synthase kinase 3 alpha gene DOID:0050888 syndromic intellectual disability ISO RGD:731783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 12435137 GSK3A glycogen synthase kinase 3 alpha gene DOID:0080855 Parkinsonism ISO RGD:620351 D RGD:9068941 20200609 RGD protein:decreased expression:striatum PMID:18805403|REF_RGD_ID:10401814 12435137 GSK3A glycogen synthase kinase 3 alpha gene DOID:10652 Alzheimer's disease treatment ISO RGD:1618666 D RGD:9068941 20200609 RGD PMID:18410522|PMID:22623685|REF_RGD_ID:10401797|REF_RGD_ID:10401801 12435137 GSK3A glycogen synthase kinase 3 alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:731783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28701297 12435137 GSK3A glycogen synthase kinase 3 alpha gene DOID:1339 Diamond-Blackfan anemia ISO RGD:731783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 12435137 GSK3A glycogen synthase kinase 3 alpha gene DOID:1342 congenital hypoplastic anemia ISO RGD:731783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 12435137 GSK3A glycogen synthase kinase 3 alpha gene DOID:1596 depressive disorder ISO RGD:731783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20357757 12435137 GSK3A glycogen synthase kinase 3 alpha gene DOID:2340 craniosynostosis ISO RGD:731783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:23354439|PMID:26097063|PMID:28492532|PMID:28808027 12435137 GSK3A glycogen synthase kinase 3 alpha gene DOID:3312 bipolar disorder ISO RGD:731783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20357757 12435137 GSK3A glycogen synthase kinase 3 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731783 D RGD:9068941 20200609 RGD PMID:12675919|REF_RGD_ID:2301741 12435137 GSK3A glycogen synthase kinase 3 alpha gene DOID:5419 schizophrenia ISO RGD:731783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12435137 GSK3A glycogen synthase kinase 3 alpha gene DOID:630 genetic disease ISO RGD:731783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435137 GSK3A glycogen synthase kinase 3 alpha gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:731783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 12435137 GSK3A glycogen synthase kinase 3 alpha gene DOID:9003816 Macrocephaly ISO RGD:731783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly 12435137 GSK3A glycogen synthase kinase 3 alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1618666 D RGD:9068941 20200609 RGD PMID:17855351|REF_RGD_ID:10401823 12435137 GSK3A glycogen synthase kinase 3 alpha gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:620351 D RGD:9068941 20200609 RGD PMID:8526919|REF_RGD_ID:10401824 12435137 GSK3A glycogen synthase kinase 3 alpha gene DOID:9269 maple syrup urine disease ISO RGD:731783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 12435151 ELAVL3 ELAV like RNA binding protein 3 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1343972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 12435151 ELAVL3 ELAV like RNA binding protein 3 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1343972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 12435151 ELAVL3 ELAV like RNA binding protein 3 gene DOID:0111254 glutaric acidemia I ISO RGD:1343972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 12435151 ELAVL3 ELAV like RNA binding protein 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1343972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 12435151 ELAVL3 ELAV like RNA binding protein 3 gene DOID:3413 alpha-mannosidosis ISO RGD:1343972 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 12435151 ELAVL3 ELAV like RNA binding protein 3 gene DOID:630 genetic disease ISO RGD:1343972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435164 STAP2 signal transducing adaptor family member 2 gene DOID:13938 amenorrhea ISO RGD:1601996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 12435164 STAP2 signal transducing adaptor family member 2 gene DOID:630 genetic disease ISO RGD:1601996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435181 TNFSF13B TNF superfamily member 13b gene DOID:0080600 COVID-19 ISO RGD:1345205 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12435181 TNFSF13B TNF superfamily member 13b gene DOID:12894 Sjogren's syndrome ISO RGD:1557043 D RGD:9068941 20220825 MouseDO OMIM:270150 12435181 TNFSF13B TNF superfamily member 13b gene DOID:2986 IgA glomerulonephritis ISO RGD:1557043 D RGD:9068941 20220825 MouseDO OMIM:161950 | OMIM:616818 12435181 TNFSF13B TNF superfamily member 13b gene DOID:630 genetic disease ISO RGD:1345205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435181 TNFSF13B TNF superfamily member 13b gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1345205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12435181 TNFSF13B TNF superfamily member 13b gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1345205 D RGD:9068941 20200609 RGD PMID:30660173|REF_RGD_ID:27095888 12435191 LRRN4 leucine rich repeat neuronal 4 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1313178 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 12435191 LRRN4 leucine rich repeat neuronal 4 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1313178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 12435191 LRRN4 leucine rich repeat neuronal 4 gene DOID:630 genetic disease ISO RGD:1313178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435200 MORC2 MORC family CW-type zinc finger 2 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1321976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 12435200 MORC2 MORC family CW-type zinc finger 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1321976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 12435200 MORC2 MORC family CW-type zinc finger 2 gene DOID:0110181 Charcot-Marie-Tooth disease axonal type 2Z ISO RGD:1321976 D RGD:7240710 20180130 OMIM 12435200 MORC2 MORC family CW-type zinc finger 2 gene DOID:0110181 Charcot-Marie-Tooth disease axonal type 2Z ISO RGD:1321976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Z | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2Z PMID:12601114|PMID:16199547|PMID:17576681|PMID:25741868|PMID:25741893|PMID:26497905|PMID:26659848|PMID:26912637|PMID:27105897|PMID:27105987|PMID:27329773|PMID:27794525|PMID:28135719|PMID:28334961|PMID:28402445|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:31211173|PMID:31618753|PMID:31785789|PMID:32693025|PMID:33844363|PMID:34059105|PMID:34189813|PMID:7964809|PMID:9536098 12435200 MORC2 MORC family CW-type zinc finger 2 gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1321976 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy PMID:28492532 12435200 MORC2 MORC family CW-type zinc finger 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1321976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:12601114|PMID:25741868|PMID:25741893|PMID:26497905|PMID:26659848|PMID:26912637|PMID:27105897|PMID:27105987|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:31211173|PMID:32693025|PMID:33844363|PMID:34059105|PMID:34189813|PMID:7964809 12435200 MORC2 MORC family CW-type zinc finger 2 gene DOID:12377 spinal muscular atrophy ISO RGD:1321976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:12601114|PMID:25741868|PMID:26497905|PMID:26659848|PMID:26912637|PMID:27105897|PMID:27105987|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:7964809 12435200 MORC2 MORC family CW-type zinc finger 2 gene DOID:630 genetic disease ISO RGD:1321976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12601114|PMID:17576681|PMID:25741868|PMID:25741893|PMID:26497905|PMID:26659848|PMID:26912637|PMID:27105897|PMID:27105987|PMID:27329773|PMID:27794525|PMID:28135719|PMID:28334961|PMID:28402445|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:31211173|PMID:32693025|PMID:34059105|PMID:7964809|PMID:9536098 12435200 MORC2 MORC family CW-type zinc finger 2 gene DOID:9001354 DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY ISO RGD:1321976 D RGD:7240710 20210217 OMIM 12435200 MORC2 MORC family CW-type zinc finger 2 gene DOID:9001354 DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY ISO RGD:1321976 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy PMID:25741868|PMID:26497905|PMID:28135719|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105 12435200 MORC2 MORC family CW-type zinc finger 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321976 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28135719|PMID:28492532|PMID:31618753|PMID:31785789|PMID:32693025 12435200 MORC2 MORC family CW-type zinc finger 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1321976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741893|PMID:26497905|PMID:27105897|PMID:28492532|PMID:29440755|PMID:30624633|PMID:31211173|PMID:32693025|PMID:34059105 12435236 SYT10 synaptotagmin 10 gene DOID:11832 visual epilepsy ISO RGD:62041 D RGD:9068941 20200609 RGD PMID:9122248|REF_RGD_ID:61761 12435236 SYT10 synaptotagmin 10 gene DOID:630 genetic disease ISO RGD:1346254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435247 PEAR1 platelet endothelial aggregation receptor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1642918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12435247 PEAR1 platelet endothelial aggregation receptor 1 gene DOID:630 genetic disease ISO RGD:1642918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435247 PEAR1 platelet endothelial aggregation receptor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1642918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12435276 LOXHD1 lipoxygenase homology PLAT domains 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:1312479 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness PMID:19732867|PMID:21465660|PMID:22975204|PMID:23226338|PMID:24033266|PMID:25741868|PMID:25792669|PMID:26969326|PMID:28000701|PMID:28492532|PMID:29676012|PMID:30311386|PMID:31152317|PMID:31547530|PMID:32860223|PMID:33753533|PMID:33892339 12435276 LOXHD1 lipoxygenase homology PLAT domains 1 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1312479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:16199547|PMID:19732867|PMID:21465660|PMID:25741868|PMID:25792669|PMID:28000701|PMID:28492532|PMID:30311386 12435276 LOXHD1 lipoxygenase homology PLAT domains 1 gene DOID:0050567 orofacial cleft susceptibility ISO RGD:1312479 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs1450425 (human) PMID:27242896|REF_RGD_ID:13204730 12435276 LOXHD1 lipoxygenase homology PLAT domains 1 gene DOID:0060356 Vici syndrome ISO RGD:1312479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 12435276 LOXHD1 lipoxygenase homology PLAT domains 1 gene DOID:0080046 Stickler syndrome ISO RGD:1312479 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Stickler syndrome PMID:28492532|PMID:30311386 12435276 LOXHD1 lipoxygenase homology PLAT domains 1 gene DOID:0110525 autosomal recessive nonsyndromic deafness 77 ISO RGD:1312479 D RGD:7240710 20180130 OMIM 12435276 LOXHD1 lipoxygenase homology PLAT domains 1 gene DOID:0110525 autosomal recessive nonsyndromic deafness 77 ISO RGD:1312479 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 77 PMID:16199547|PMID:16936105|PMID:17576681|PMID:19732867|PMID:21465660|PMID:22341973|PMID:22975204|PMID:23226338|PMID:23804846|PMID:23897863|PMID:24033266|PMID:25251670|PMID:25333069|PMID:25741868|PMID:25792669|PMID:25938503|PMID:26346818|PMID:26467025|PMID:26763877|PMID:26969326|PMID:26973026|PMID:27068579|PMID:27246798|PMID:27959697|PMID:27984600|PMID:28000701|PMID:28383030|PMID:28492532|PMID:29309402|PMID:29669943|PMID:29676012|PMID:29799290|PMID:29907799|PMID:30123251|PMID:30311386|PMID:31152317|PMID:31547530|PMID:31709873|PMID:31827275|PMID:32279305|PMID:32682410|PMID:32860223|PMID:33753533|PMID:33892339|PMID:34171171|PMID:35711932|PMID:35802133|PMID:36633841|PMID:9536098 12435276 LOXHD1 lipoxygenase homology PLAT domains 1 gene DOID:1059 intellectual disability ISO RGD:1312479 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12435276 LOXHD1 lipoxygenase homology PLAT domains 1 gene DOID:11555 Fuchs' endothelial dystrophy ISO RGD:1312479 D RGD:9068941 20200609 RGD DNA:missense mutations: :multiple PMID:22341973|REF_RGD_ID:11072687 12435276 LOXHD1 lipoxygenase homology PLAT domains 1 gene DOID:630 genetic disease ISO RGD:1312479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386 12435276 LOXHD1 lipoxygenase homology PLAT domains 1 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1312479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 12435276 LOXHD1 lipoxygenase homology PLAT domains 1 gene DOID:9004538 Hearing Loss ISO RGD:1312479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:16199547|PMID:19732867|PMID:21465660|PMID:22341973|PMID:23804846|PMID:24033266|PMID:25741868|PMID:25792669|PMID:28000701|PMID:28492532|PMID:29309402|PMID:30311386|PMID:32682410 12435276 LOXHD1 lipoxygenase homology PLAT domains 1 gene DOID:9008681 Deafness ISO RGD:1312479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:25741868 12435320 TMEM141 transmembrane protein 141 gene DOID:0050777 Joubert syndrome ISO RGD:1602669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12435320 TMEM141 transmembrane protein 141 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1602669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 12435320 TMEM141 transmembrane protein 141 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1602669 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 12435320 TMEM141 transmembrane protein 141 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1602669 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 12435320 TMEM141 transmembrane protein 141 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1602669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 12435320 TMEM141 transmembrane protein 141 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1602669 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 12435320 TMEM141 transmembrane protein 141 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1602669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 12435320 TMEM141 transmembrane protein 141 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1602669 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 12435320 TMEM141 transmembrane protein 141 gene DOID:0081097 Rafiq syndrome ISO RGD:1602669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 12435320 TMEM141 transmembrane protein 141 gene DOID:3652 Leigh disease ISO RGD:1602669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 12435320 TMEM141 transmembrane protein 141 gene DOID:630 genetic disease ISO RGD:1602669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435320 TMEM141 transmembrane protein 141 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1602669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 12435336 VWA7 von Willebrand factor A domain containing 7 gene DOID:0050553 JMP syndrome ISO RGD:1342662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 12435336 VWA7 von Willebrand factor A domain containing 7 gene DOID:630 genetic disease ISO RGD:1342662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435361 ZC3H12A zinc finger CCCH-type containing 12A gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1602205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 12435361 ZC3H12A zinc finger CCCH-type containing 12A gene DOID:12236 primary biliary cholangitis ISO RGD:1618974 D RGD:9068941 20220825 MouseDO OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 12435361 ZC3H12A zinc finger CCCH-type containing 12A gene DOID:14115 toxic shock syndrome ISO RGD:1618974 D RGD:9068941 20201016 RGD PMID:23422584|REF_RGD_ID:39938961 12435361 ZC3H12A zinc finger CCCH-type containing 12A gene DOID:14262 oral candidiasis ISO RGD:1618974 D RGD:9068941 20201015 RGD PMID:26320658|REF_RGD_ID:11534569 12435361 ZC3H12A zinc finger CCCH-type containing 12A gene DOID:2043 hepatitis B treatment ISO RGD:1602205 D RGD:9068941 20201016 RGD human gene in a mouse model PMID:31926181|REF_RGD_ID:39938973 12435361 ZC3H12A zinc finger CCCH-type containing 12A gene DOID:630 genetic disease ISO RGD:1602205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435361 ZC3H12A zinc finger CCCH-type containing 12A gene DOID:874 bacterial pneumonia ISO RGD:1618974 D RGD:9068941 20201016 RGD associated with Pseudomonas Infections PMID:29695841|REF_RGD_ID:39938967 12435361 ZC3H12A zinc finger CCCH-type containing 12A gene DOID:9000469 Viral Myocarditis disease_progression ISO RGD:1618974 D RGD:9068941 20201016 RGD associated with Coxsackievirus Infections; mRNA,protein:increased expression:heart,pancreas (mouse) PMID:29043433|REF_RGD_ID:39938975 12435361 ZC3H12A zinc finger CCCH-type containing 12A gene DOID:9004017 Chronic Hepatitis C ISO RGD:1602205 D RGD:9068941 20201016 RGD protein:increased expression:liver (human) PMID:21739451|REF_RGD_ID:39938976 12435361 ZC3H12A zinc finger CCCH-type containing 12A gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1602205 D RGD:9068941 20201015 RGD protein:increased expression:liver (human) PMID:25225661|REF_RGD_ID:39938960 12435361 ZC3H12A zinc finger CCCH-type containing 12A gene DOID:9004610 Acute Lung Injury severity ISO RGD:1618974 D RGD:9068941 20201016 RGD associated with toxic shock syndrome PMID:23422584|REF_RGD_ID:39938961 12435361 ZC3H12A zinc finger CCCH-type containing 12A gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:1602205 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22196138 12435361 ZC3H12A zinc finger CCCH-type containing 12A gene DOID:9006973 Acute Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:1618974 D RGD:9068941 20201015 RGD PMID:26320658|REF_RGD_ID:11534569 12435371 OR5C1 olfactory receptor family 5 subfamily C member 1 gene DOID:630 genetic disease ISO RGD:1604145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435374 STPG4 sperm-tail PG-rich repeat containing 4 gene DOID:14671 multiple intestinal atresia ISO RGD:1602960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple gastrointestinal atresias PMID:28492532 12435374 STPG4 sperm-tail PG-rich repeat containing 4 gene DOID:3883 Lynch syndrome ISO RGD:1602960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:28492532|PMID:30374176 12435385 NT5DC3 5'-nucleotidase domain containing 3 gene DOID:630 genetic disease ISO RGD:1602220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435432 RIMS4 regulating synaptic membrane exocytosis 4 gene DOID:2234 focal epilepsy ISO RGD:1350639 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 12435432 RIMS4 regulating synaptic membrane exocytosis 4 gene DOID:630 genetic disease ISO RGD:1350639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435432 RIMS4 regulating synaptic membrane exocytosis 4 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350639 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 12435448 PLEKHM2 pleckstrin homology and RUN domain containing M2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1315942 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12435448 PLEKHM2 pleckstrin homology and RUN domain containing M2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1315942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17576681|PMID:28492532|PMID:9536098 12435448 PLEKHM2 pleckstrin homology and RUN domain containing M2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1315942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:28492532|PMID:9536098 12435448 PLEKHM2 pleckstrin homology and RUN domain containing M2 gene DOID:630 genetic disease ISO RGD:1315942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12435448 PLEKHM2 pleckstrin homology and RUN domain containing M2 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1315942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 12435474 MDC1 mediator of DNA damage checkpoint 1 gene DOID:11372 megacolon ISO RGD:1348817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 12435474 MDC1 mediator of DNA damage checkpoint 1 gene DOID:3459 breast carcinoma ISO RGD:1348817 D RGD:9068941 20200609 RGD protein:decreased expression:breast (human) PMID:17546051|REF_RGD_ID:9589053 12435474 MDC1 mediator of DNA damage checkpoint 1 gene DOID:3905 lung carcinoma ISO RGD:1348817 D RGD:9068941 20200609 RGD protein:decreased expression:bronchus, parenchyma (human) PMID:17546051|REF_RGD_ID:9589053 12435474 MDC1 mediator of DNA damage checkpoint 1 gene DOID:4362 cervical cancer ISO RGD:1348817 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:uterine cervix (human) PMID:21853275|REF_RGD_ID:9589052 12435474 MDC1 mediator of DNA damage checkpoint 1 gene DOID:5517 stomach carcinoma severity ISO RGD:1348817 D RGD:9068941 20200609 RGD protein:decreased expression:stomach (human) PMID:23569343|REF_RGD_ID:9589059 12435474 MDC1 mediator of DNA damage checkpoint 1 gene DOID:630 genetic disease ISO RGD:1348817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435524 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0050783 secondary progressive multiple sclerosis ISO RGD:1348965 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Chronic progressive multiple sclerosis 12435524 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:1348965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic progressive multiple sclerosis 12435524 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ISO RGD:1348965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12435524 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0060211 amyotrophic lateral sclerosis type 20 ISO RGD:1348965 D RGD:7240710 20180130 OMIM 12435524 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0060211 amyotrophic lateral sclerosis type 20 ISO RGD:1348965 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 20 PMID:23455423|PMID:25741868 12435524 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0111386 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 ISO RGD:1348965 D RGD:7240710 20180130 OMIM 12435524 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0111386 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 ISO RGD:1348965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 PMID:20116073|PMID:23455423|PMID:25616961|PMID:25741868 12435524 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:10652 Alzheimer's disease ISO RGD:1348965 D RGD:9068941 20200609 RGD protein:decreased expression:entorhinal cortex (human) PMID:22628224|REF_RGD_ID:9999191 12435524 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1348965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Relapsing remitting multiple sclerosis 12435524 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:305 carcinoma ISO RGD:1348965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12435524 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:321 tropical spastic paraparesis ISO RGD:1348965 D RGD:9068941 20200609 RGD PMID:11984596|REF_RGD_ID:10045967 12435524 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1348965 D RGD:9068941 20200609 RGD protein:increased expression:lung (human) PMID:20716340|REF_RGD_ID:9999189 12435524 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:3910 lung adenocarcinoma ISO RGD:1348965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12435524 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:630 genetic disease ISO RGD:1348965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435524 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:684 hepatocellular carcinoma ISO RGD:1348965 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:23633480|REF_RGD_ID:9685423 12435524 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1348965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12435524 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12435524 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1348965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 12435524 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:9006205 Animal Disease Models ISO RGD:1348965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12435524 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348965 D RGD:9068941 20200609 RGD protein:altered expression:colonic epithelium, nucleus, cytoplasm (human) PMID:21194727|REF_RGD_ID:9999439 12435553 SSTR5 somatostatin receptor 5 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 12435553 SSTR5 somatostatin receptor 5 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736501 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 12435553 SSTR5 somatostatin receptor 5 gene DOID:1824 status epilepticus ISO RGD:736501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18951627 12435553 SSTR5 somatostatin receptor 5 gene DOID:1826 epilepsy ISO RGD:736501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12435553 SSTR5 somatostatin receptor 5 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12435553 SSTR5 somatostatin receptor 5 gene DOID:3312 bipolar disorder ISO RGD:736501 D RGD:9068941 20200609 RGD DNA:SNP, missense mutations, haplotype: :573G>A, p.L48M, p.P335L (human) PMID:12192619|REF_RGD_ID:1358589 12435553 SSTR5 somatostatin receptor 5 gene DOID:630 genetic disease ISO RGD:736501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435553 SSTR5 somatostatin receptor 5 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3765 D RGD:9068941 20200609 RGD PMID:7956902|REF_RGD_ID:2325008 12435558 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:0070111 Niemann-Pick disease type A ISO RGD:1318462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:25741868 12435558 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:0070112 Niemann-Pick disease type B ISO RGD:1318462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:25741868 12435558 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1318462 D RGD:7240710 20180130 OMIM 12435558 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1318462 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, adult form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, juvenile form PMID:10419504|PMID:10480349|PMID:10521290|PMID:10521297|PMID:11182931|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11545687|PMID:11754101|PMID:12205649|PMID:12401890|PMID:12408188|PMID:12554680|PMID:12719428|PMID:12813037|PMID:12955717|PMID:12974729|PMID:14639697|PMID:14970192|PMID:15130691|PMID:15347664|PMID:15459971|PMID:15465421|PMID:15596783|PMID:15774455|PMID:15937921|PMID:16086131|PMID:16098014|PMID:16126423|PMID:16138904|PMID:16143556|PMID:16199547|PMID:16720792|PMID:16778374|PMID:16802107|PMID:17003072|PMID:17160617|PMID:17576681|PMID:17973331|PMID:17989072|PMID:18081003|PMID:18216017|PMID:19013089|PMID:19206179|PMID:19223215|PMID:19252935|PMID:19307542|PMID:19563754|PMID:19609713|PMID:19718781|PMID:19744920|PMID:19900398|PMID:20301473|PMID:20489167|PMID:20521171|PMID:20554533|PMID:20718790|PMID:20826119|PMID:20882348|PMID:20981092|PMID:21245028|PMID:21436030|PMID:21550990|PMID:22065762|PMID:22269206|PMID:22326530|PMID:22476655|PMID:22505584|PMID:22676771|PMID:22704015|PMID:22750297|PMID:22995991|PMID:23142039|PMID:23146215|PMID:23183285|PMID:23427322|PMID:23430855|PMID:23433426|PMID:23453666|PMID:23487299|PMID:23593294|PMID:23597521|PMID:23653225|PMID:23685560|PMID:23757202|PMID:23773996|PMID:23774949|PMID:23791518|PMID:23821321|PMID:24001525|PMID:24033266|PMID:24035292|PMID:24178705|PMID:24386122|PMID:24506780|PMID:24570279|PMID:24676439|PMID:24767253|PMID:24891511|PMID:24915861|PMID:24928400|PMID:25071864|PMID:25131710|PMID:25149939|PMID:25236789|PMID:25239094|PMID:25326635|PMID:25326637|PMID:25349751|PMID:25425405|PMID:25497598|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25764212|PMID:25873482|PMID:25888393|PMID:25989649|PMID:26019327|PMID:26108224|PMID:26206375|PMID:26255038|PMID:26284228|PMID:26338816|PMID:26467025|PMID:26666848|PMID:26771826|PMID:26790753|PMID:26830282|PMID:26910362|PMID:26937389|PMID:26939636|PMID:26981555|PMID:26984608|PMID:27016452|PMID:27139891|PMID:27193329|PMID:27234403|PMID:27238017|PMID:27250337|PMID:27256227|PMID:27366019|PMID:27378690|PMID:27528516|PMID:27549128|PMID:27550898|PMID:27581084|PMID:27599728|PMID:27706244|PMID:27792009|PMID:27900365|PMID:27923633|PMID:27928380|PMID:27959697|PMID:28105569|PMID:28130309|PMID:28155026|PMID:28167839|PMID:28193631|PMID:28222799|PMID:28328115|PMID:28387450|PMID:28413817|PMID:28472934|PMID:28480683|PMID:28492532|PMID:28703315|PMID:28710748|PMID:28776642|PMID:28784760|PMID:28802248|PMID:28808920|PMID:28865947|PMID:28883878|PMID:29100954|PMID:29165669|PMID:29197565|PMID:29453517|PMID:29476731|PMID:29631617|PMID:29971198|PMID:30019023|PMID:30119649|PMID:30153451|PMID:30202070|PMID:30285904|PMID:30487145|PMID:30552426|PMID:30556376|PMID:30609409|PMID:30633340|PMID:30665703|PMID:30737051|PMID:30820861|PMID:30923329|PMID:30985853|PMID:31130284|PMID:31139477|PMID:31296176|PMID:31497485|PMID:31543266|PMID:31589614|PMID:31635081|PMID:31639011|PMID:3165081|PMID:31699992|PMID:31743419|PMID:31754021|PMID:31980526|PMID:32060698|PMID:32138288|PMID:32144825|PMID:32222928|PMID:32248828|PMID:32289814|PMID:32482919|PMID:32488064|PMID:32709131|PMID:32745579|PMID:32860008|PMID:32921771|PMID:32931663|PMID:33021976|PMID:33099109|PMID:33139814|PMID:33163944|PMID:33258288|PMID:33624863|PMID:3378364|PMID:33947371|PMID:33990640|PMID:34303826|PMID:35892469|PMID:4795418|PMID:5465421|PMID:9211849|PMID:9211850|PMID:9245994|PMID:9536098|PMID:9634529|PMID:9744920|PMID:9927649 12435558 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:0070114 Niemann-Pick disease type C2 ISO RGD:1318462 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C2 PMID:25741868 12435558 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:0111029 hemochromatosis type 1 ISO RGD:1318462 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 1 PMID:11479732|PMID:25741868|PMID:28492532|PMID:30820861 12435558 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:1059 intellectual disability ISO RGD:1318462 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 12435558 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:11077 brucellosis ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12183525 12435558 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:14504 Niemann-Pick disease ISO RGD:1553002 D RGD:9068941 20220825 MouseDO 12435558 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:1826 epilepsy ISO RGD:1318462 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 12435558 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:1936 atherosclerosis ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18483620 12435558 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:2725 capillary hemangioma ISO RGD:1318462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Capillary hemangioma PMID:25741868 12435558 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:409 liver disease ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24901380 12435558 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:5082 liver cirrhosis ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22216111 12435558 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:539 ophthalmoplegia ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21273508 12435558 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:543 dystonia ISO RGD:1318462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868|PMID:26981555|PMID:28492532 12435558 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:630 genetic disease ISO RGD:1318462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10480349|PMID:10521290|PMID:10521297|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11754101|PMID:12401890|PMID:12408188|PMID:12955717|PMID:14639697|PMID:15465421|PMID:15937921|PMID:16098014|PMID:16126423|PMID:17044092|PMID:17160617|PMID:17576681|PMID:17989072|PMID:18216017|PMID:19252935|PMID:19563754|PMID:19744920|PMID:20301473|PMID:20521171|PMID:20554533|PMID:20718790|PMID:20826119|PMID:21245028|PMID:21436030|PMID:22326530|PMID:22505584|PMID:23183285|PMID:23427322|PMID:23430855|PMID:23433426|PMID:23773996|PMID:23791518|PMID:24033266|PMID:24386122|PMID:24928400|PMID:25131710|PMID:25149939|PMID:25236789|PMID:25349751|PMID:25425405|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25764212|PMID:25873482|PMID:26019327|PMID:26255038|PMID:26666848|PMID:26790753|PMID:26939636|PMID:26981555|PMID:27193329|PMID:27238017|PMID:27250337|PMID:27923633|PMID:27928380|PMID:28105569|PMID:28130309|PMID:28193631|PMID:28222799|PMID:28413817|PMID:28492532|PMID:28710748|PMID:28776642|PMID:28784760|PMID:28865947|PMID:29476731|PMID:29631617|PMID:30019023|PMID:30153451|PMID:30285904|PMID:30487145|PMID:30552426|PMID:30556376|PMID:30609409|PMID:30665703|PMID:30820861|PMID:31130284|PMID:31589614|PMID:31639011|PMID:31980526|PMID:32138288|PMID:32222928|PMID:32248828|PMID:32709131|PMID:32745579|PMID:32860008|PMID:33099109|PMID:33990640|PMID:9211849|PMID:9211850|PMID:9536098 12435558 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:9001722 Dysarthria ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21273508 12435558 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:9002695 Cataplexy ISO RGD:1318462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataplexy PMID:10521290|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11754101|PMID:12401890|PMID:12955717|PMID:14639697|PMID:15937921|PMID:16086131|PMID:16098014|PMID:20301473|PMID:20554533|PMID:23183285|PMID:23427322|PMID:23773996|PMID:23791518|PMID:25236789|PMID:25349751|PMID:25425405|PMID:25741868|PMID:26666848|PMID:26981555|PMID:28492532|PMID:32138288|PMID:32248828 12435558 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:9003739 Niemann-Pick Disease Type D ISO RGD:1318462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type D PMID:11333381|PMID:11545687|PMID:12401890|PMID:16126423|PMID:16778374|PMID:20301473|PMID:20718790|PMID:25741868|PMID:26666848|PMID:26984608|PMID:28222799|PMID:28492532|PMID:9245994|PMID:9634529 12435558 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:9004866 Ataxia ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21273508 12435558 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 12435558 NPC1 NPC intracellular cholesterol transporter 1 gene DOID:9970 obesity ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151714 12435585 PREPL prolyl endopeptidase like gene DOID:0060858 hypotonia-cystinuria syndrome ISO RGD:1606027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 12435585 PREPL prolyl endopeptidase like gene DOID:0080587 congenital myasthenic syndrome 22 ISO RGD:1606027 D RGD:7240710 20190315 OMIM 12435585 PREPL prolyl endopeptidase like gene DOID:0080587 congenital myasthenic syndrome 22 ISO RGD:1606027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 22 PMID:10737983|PMID:16199547|PMID:17576681|PMID:19782624|PMID:22796000|PMID:24033266|PMID:24610330|PMID:25741868|PMID:28492532|PMID:28726805|PMID:29483676|PMID:29913539|PMID:32707643|PMID:32860008|PMID:33233562|PMID:9536098 12435585 PREPL prolyl endopeptidase like gene DOID:1059 intellectual disability ISO RGD:1606027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 12435585 PREPL prolyl endopeptidase like gene DOID:3635 congenital myasthenic syndrome ISO RGD:1606027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12435585 PREPL prolyl endopeptidase like gene DOID:3883 Lynch syndrome ISO RGD:1606027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12435585 PREPL prolyl endopeptidase like gene DOID:5426 primary ovarian insufficiency ISO RGD:1606027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 12435585 PREPL prolyl endopeptidase like gene DOID:630 genetic disease ISO RGD:1606027 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12435585 PREPL prolyl endopeptidase like gene DOID:9266 cystinuria ISO RGD:1606027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cystinuria PMID:10620184|PMID:10737983|PMID:11260385|PMID:11524703|PMID:11748844|PMID:12820697|PMID:14531788|PMID:15635077|PMID:16374432|PMID:18234729|PMID:19782624|PMID:20517292|PMID:21677404|PMID:22493502|PMID:22796000|PMID:23532419|PMID:24033266|PMID:24610330|PMID:25109415|PMID:25640679|PMID:25741868|PMID:25964309|PMID:26537754|PMID:28492532|PMID:28646536|PMID:28717662|PMID:30773290|PMID:32133030|PMID:33349102|PMID:7573036|PMID:8054986|PMID:8792820|PMID:9768685 12435619 APOB apolipoprotein B gene DOID:0050952 spastic ataxia ISO RGD:735787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 12435619 APOB apolipoprotein B gene DOID:0080665 warfarin resistance ISO RGD:735787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coumarin resistance PMID:25741868|PMID:26467025|PMID:28492532 12435619 APOB apolipoprotein B gene DOID:0080666 warfarin sensitivity ISO RGD:735787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Warfarin sensitivity PMID:25741868|PMID:26467025|PMID:28492532 12435619 APOB apolipoprotein B gene DOID:0090028 familial isolated deficiency of vitamin E ISO RGD:735787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18458655 12435619 APOB apolipoprotein B gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:735787 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:14732481|PMID:20981092|PMID:21408211|PMID:24033266|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27153395|PMID:28008009|PMID:28492532|PMID:30270084|PMID:30782561|PMID:31150472 12435619 APOB apolipoprotein B gene DOID:0111061 familial hypobetalipoproteinemia 2 ISO RGD:735788 D RGD:9068941 20220825 MouseDO OMIM:605019 12435619 APOB apolipoprotein B gene DOID:0111062 familial hypobetalipoproteinemia 1 ISO RGD:735787 D RGD:7240710 20180130 OMIM 12435619 APOB apolipoprotein B gene DOID:0111062 familial hypobetalipoproteinemia 1 ISO RGD:735787 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17043676|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:1731805|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:1939657|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24751931|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25335495|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:2909827|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30056620|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:3975124|PMID:4031057|PMID:7229035|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12435619 APOB apolipoprotein B gene DOID:10608 celiac disease ISO RGD:735787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 12435619 APOB apolipoprotein B gene DOID:10923 sickle cell anemia treatment ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:24035168|REF_RGD_ID:11354943 12435619 APOB apolipoprotein B gene DOID:1168 familial hyperlipidemia ISO RGD:735787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17658632 12435619 APOB apolipoprotein B gene DOID:1168 familial hyperlipidemia ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:7627691|REF_RGD_ID:1578419 12435619 APOB apolipoprotein B gene DOID:1168 familial hyperlipidemia treatment ISO RGD:735788 D RGD:9068941 20200609 RGD PMID:15716585|REF_RGD_ID:14401726 12435619 APOB apolipoprotein B gene DOID:1184 nephrotic syndrome ISO RGD:2129 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:11135070|REF_RGD_ID:11353965 12435619 APOB apolipoprotein B gene DOID:12241 beta thalassemia ISO RGD:735787 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:9180253|REF_RGD_ID:11354944 12435619 APOB apolipoprotein B gene DOID:1287 cardiovascular system disease ISO RGD:735787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16544732|PMID:17002798 12435619 APOB apolipoprotein B gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:735787 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:27578115|REF_RGD_ID:14695090 12435619 APOB apolipoprotein B gene DOID:13241 Behcet's disease ISO RGD:735787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12074830 12435619 APOB apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:11941481|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17043676|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18258526|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21059979|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24784157|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26802169|PMID:27153395|PMID:27206935|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28166811|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29261184|PMID:29290422|PMID:29386597|PMID:29572815|PMID:29598884|PMID:30056620|PMID:30122538|PMID:30270084|PMID:30526649|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:33207932|PMID:33269076|PMID:33303402|PMID:3399894|PMID:3473077|PMID:3477815|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12435619 APOB apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:1360085|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15797858|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17765246|PMID:1793440|PMID:17964958|PMID:18028451|PMID:18096825|PMID:18222178|PMID:18325181|PMID:18700895|PMID:18710658|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20236128|PMID:20538126|PMID:20736250|PMID:20809525|PMID:21059979|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21657943|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22698793|PMID:2280177|PMID:22883975|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:2375782|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24507774|PMID:24784157|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25741868|PMID:26036859|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26636822|PMID:26643808|PMID:27153395|PMID:27206935|PMID:27497240|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27831900|PMID:27872105|PMID:28008009|PMID:28104544|PMID:28428224|PMID:28492532|PMID:28965616|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29555771|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30420299|PMID:30586733|PMID:30592178|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31150472|PMID:31345425|PMID:31447099|PMID:32719484|PMID:33269076|PMID:33418990|PMID:33740630|PMID:34037665|PMID:3477815|PMID:3771801|PMID:7627691|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9603795|PMID:9654205|PMID:9702952 12435619 APOB apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:1360085|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21059979|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:29036232|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33020668|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3477815|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12435619 APOB apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11941481|PMID:12124991|PMID:1360085|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:29036232|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12435619 APOB apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:12124991|PMID:1360085|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21270786|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:25974703|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:29036232|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12435619 APOB apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:12124991|PMID:12872264|PMID:1360085|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:29036232|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12435619 APOB apolipoprotein B gene DOID:13810 familial hypercholesterolemia ISO RGD:735787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia 1 | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11941481|PMID:12031600|PMID:1360085|PMID:1424233|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18258526|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21059979|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24784157|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:2574033|PMID:25741868|PMID:25741869|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26361156|PMID:26415676|PMID:26467025|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26802169|PMID:27153395|PMID:27206935|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28166811|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29261184|PMID:29290422|PMID:29386597|PMID:29572815|PMID:29598884|PMID:30056620|PMID:30076208|PMID:30122538|PMID:30270084|PMID:30526649|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:33269076|PMID:33303402|PMID:3477815|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12435619 APOB apolipoprotein B gene DOID:13810 familial hypercholesterolemia ISO RGD:735787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:12031600|PMID:12124991|PMID:1360085|PMID:1424233|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21270786|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:2574033|PMID:25741868|PMID:25741869|PMID:25974703|PMID:26020417|PMID:26036859|PMID:26064709|PMID:2614276|PMID:26332594|PMID:26361156|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29396286|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30056620|PMID:30076208|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30389453|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33137929|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8354962|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12435619 APOB apolipoprotein B gene DOID:13810 familial hypercholesterolemia ISO RGD:735787 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:12031600|PMID:12124991|PMID:1360085|PMID:1424233|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:2574033|PMID:25741868|PMID:25741869|PMID:26020417|PMID:26036859|PMID:26064709|PMID:2614276|PMID:26332594|PMID:26361156|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29396286|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30056620|PMID:30076208|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30389453|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33137929|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8354962|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12435619 APOB apolipoprotein B gene DOID:1390 hypobetalipoproteinemia ISO RGD:735787 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL | ClinVar Annotator: match by term: Hypobetalipoproteinemia PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:12124991|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:1562615|PMID:15797858|PMID:15805152|PMID:1600334|PMID:1602000|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:2022744|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:21981844|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:2312735|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24751931|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25335495|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25647241|PMID:2567736|PMID:2574033|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:2614276|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:3399894|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34650182|PMID:3473077|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8792774|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12435619 APOB apolipoprotein B gene DOID:1390 hypobetalipoproteinemia susceptibility ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:3473077|REF_RGD_ID:1599164 12435619 APOB apolipoprotein B gene DOID:1712 aortic valve stenosis ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:11903341|REF_RGD_ID:1578425 12435619 APOB apolipoprotein B gene DOID:2349 arteriosclerosis ISO RGD:735787 D RGD:9068941 20200609 RGD associated with Obesity PMID:19260948|REF_RGD_ID:2312763 12435619 APOB apolipoprotein B gene DOID:2394 ovarian cancer severity ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:9023386|REF_RGD_ID:11354936 12435619 APOB apolipoprotein B gene DOID:3121 gallbladder cancer ISO RGD:735787 D RGD:9068941 20200609 RGD DNA:SNP: :rs693 (human) PMID:20082485|REF_RGD_ID:2325761 12435619 APOB apolipoprotein B gene DOID:3121 gallbladder cancer susceptibility ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:17696941|REF_RGD_ID:2325764 12435619 APOB apolipoprotein B gene DOID:3393 coronary artery disease ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:9585673|REF_RGD_ID:1578418 12435619 APOB apolipoprotein B gene DOID:3393 coronary artery disease no_association ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:1732399|REF_RGD_ID:1578417 12435619 APOB apolipoprotein B gene DOID:3526 cerebral infarction ISO RGD:735787 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:2352345|REF_RGD_ID:2313973 12435619 APOB apolipoprotein B gene DOID:4606 bile duct cancer susceptibility ISO RGD:735787 D RGD:9068941 20200609 RGD DNA:polymorphisms:intron, exon:IVS6+360C>T, 56C>T (human) PMID:18296645|REF_RGD_ID:2317550 12435619 APOB apolipoprotein B gene DOID:4607 biliary tract cancer ISO RGD:735787 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18076041|REF_RGD_ID:2325763 12435619 APOB apolipoprotein B gene DOID:4608 common bile duct neoplasm ISO RGD:735787 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18076041|REF_RGD_ID:2325763 12435619 APOB apolipoprotein B gene DOID:630 genetic disease ISO RGD:735787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26361156|PMID:28492532 12435619 APOB apolipoprotein B gene DOID:684 hepatocellular carcinoma ISO RGD:735787 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 12435619 APOB apolipoprotein B gene DOID:8947 diabetic retinopathy ISO RGD:735787 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19448981|REF_RGD_ID:2313976 12435619 APOB apolipoprotein B gene DOID:9000185 Coumarin Sensitivity ISO RGD:735787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COUMARIN SENSITIVITY PMID:25741868|PMID:26467025|PMID:28492532 12435619 APOB apolipoprotein B gene DOID:9000528 Coronary Disease ISO RGD:735787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early-onset coronary artery disease 12435619 APOB apolipoprotein B gene DOID:9000543 Death ISO RGD:735787 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:19412820|REF_RGD_ID:2313977 12435619 APOB apolipoprotein B gene DOID:9000699 Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B ISO RGD:735787 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE | ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:12124991|PMID:12872264|PMID:1360085|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:29036232|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12435619 APOB apolipoprotein B gene DOID:9000808 Hypercholesterolemia ISO RGD:735787 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:20657596|PMID:22923420|PMID:24033266|PMID:25647241|PMID:25741868|PMID:26415676|PMID:26467025|PMID:27578127|PMID:28492532 12435619 APOB apolipoprotein B gene DOID:9002123 Familial Hypobetalipoproteinemia, Apolipoprotein B ISO RGD:735787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2567736|PMID:2843815|PMID:3473077 12435619 APOB apolipoprotein B gene DOID:9002165 Diabetic Nephropathies ISO RGD:735787 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19324028|REF_RGD_ID:2313979 12435619 APOB apolipoprotein B gene DOID:9003370 Dyslipidemias ISO RGD:735787 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18230960 12435619 APOB apolipoprotein B gene DOID:9004262 Isolated Systolic Hypertension ISO RGD:735787 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated systolic hypertension PMID:25741868|PMID:28492532 12435619 APOB apolipoprotein B gene DOID:9005308 Hypercholesterolemia, Autosomal Dominant, 3 ISO RGD:735787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 PMID:25741868 12435619 APOB apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:7240710 20180130 OMIM 12435619 APOB apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17043676|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18258526|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21059979|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24784157|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26802169|PMID:27153395|PMID:27206935|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29555771|PMID:29572815|PMID:29598884|PMID:30030251|PMID:30056620|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:32719484|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33740630|PMID:3399894|PMID:34037665|PMID:3473077|PMID:3477815|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12435619 APOB apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1431583|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33020668|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:3399894|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3473077|PMID:3477815|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12435619 APOB apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1431583|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:2022744|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:25741869|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30076208|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33137929|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:3399894|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3473077|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12435619 APOB apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:11941481|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17043676|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19084451|PMID:1940616|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:2022744|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:2574033|PMID:25741868|PMID:25741869|PMID:26020417|PMID:26036859|PMID:26064709|PMID:2614276|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30056620|PMID:30076208|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33137929|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:3399894|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3473077|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:7947592|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8354962|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12435619 APOB apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17043676|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19084451|PMID:1940616|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:2022744|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:2574033|PMID:25741868|PMID:25741869|PMID:26020417|PMID:26036859|PMID:26064709|PMID:2614276|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30056620|PMID:30076208|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33137929|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:3399894|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3473077|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:7947592|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8354962|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12435619 APOB apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17043676|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19084451|PMID:1940616|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:2022744|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25647241|PMID:2574033|PMID:25741868|PMID:25741869|PMID:26020417|PMID:26036859|PMID:26064709|PMID:2614276|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30056620|PMID:30076208|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33137929|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:3399894|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34650182|PMID:3473077|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:7947592|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8354962|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 12435619 APOB apolipoprotein B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2129 D RGD:9068941 20200609 RGD PMID:17292734|REF_RGD_ID:1642185 12435619 APOB apolipoprotein B gene DOID:9005930 Endotoxemia ISO RGD:2129 D RGD:9068941 20200609 RGD PMID:16719989|REF_RGD_ID:1599165 12435619 APOB apolipoprotein B gene DOID:9006599 Hypertriglyceridemia ISO RGD:2129 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:8121310|REF_RGD_ID:11353966 12435619 APOB apolipoprotein B gene DOID:9006599 Hypertriglyceridemia ISO RGD:735787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20657596 12435619 APOB apolipoprotein B gene DOID:9006646 Metabolic Syndrome ISO RGD:735787 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16828905|REF_RGD_ID:1601198 12435619 APOB apolipoprotein B gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:735787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 12435619 APOB apolipoprotein B gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735787 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31186542 12435619 APOB apolipoprotein B gene DOID:9007096 Stroke ISO RGD:735787 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stroke PMID:10208479|PMID:10388479|PMID:10735632|PMID:10952765|PMID:11115503|PMID:11137107|PMID:11494965|PMID:11781700|PMID:11810272|PMID:1360085|PMID:14508510|PMID:1466657|PMID:1493642|PMID:15797858|PMID:1600334|PMID:16250003|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17765246|PMID:1793440|PMID:18028451|PMID:18096825|PMID:18222178|PMID:18325181|PMID:18700895|PMID:1977310|PMID:20145306|PMID:20236128|PMID:20736250|PMID:20809525|PMID:21059979|PMID:21310417|PMID:21382890|PMID:21657943|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22698793|PMID:2280177|PMID:22883975|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:2375782|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24507774|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25741868|PMID:26036859|PMID:26415676|PMID:26467025|PMID:26636822|PMID:26643808|PMID:26892515|PMID:27497240|PMID:27765764|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27919364|PMID:28104544|PMID:28428224|PMID:28492532|PMID:28965616|PMID:29261184|PMID:29284604|PMID:29555771|PMID:30030251|PMID:30122538|PMID:30270359|PMID:30592178|PMID:31028937|PMID:31106297|PMID:31345425|PMID:3477815|PMID:3771801|PMID:7627691|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9603795|PMID:9654205 12435619 APOB apolipoprotein B gene DOID:9007102 Myocardial Ischemia ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:9603795|REF_RGD_ID:1578415 12435619 APOB apolipoprotein B gene DOID:9007925 Sudden Cardiac Death ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:17045270|REF_RGD_ID:1601197 12435619 APOB apolipoprotein B gene DOID:9008217 Hemorrhage ISO RGD:735787 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31186542 12435619 APOB apolipoprotein B gene DOID:9351 diabetes mellitus ISO RGD:735787 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:2352345|REF_RGD_ID:2313973 12435619 APOB apolipoprotein B gene DOID:9352 type 2 diabetes mellitus ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:18945923|REF_RGD_ID:2313981 12435619 APOB apolipoprotein B gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:15161783|REF_RGD_ID:11354945 12435619 APOB apolipoprotein B gene DOID:9452 fatty liver disease ISO RGD:2129 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:17203948|REF_RGD_ID:2325770 12435619 APOB apolipoprotein B gene DOID:9452 fatty liver disease ISO RGD:735787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12048068|PMID:17303181 12435619 APOB apolipoprotein B gene DOID:9744 type 1 diabetes mellitus ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:1579407|PMID:19171731|REF_RGD_ID:2313972|REF_RGD_ID:2313980 12435619 APOB apolipoprotein B gene DOID:9970 obesity ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:16752182|REF_RGD_ID:1601202 12435619 APOB apolipoprotein B gene DOID:9970 obesity ISO RGD:735788 D RGD:9068941 20200609 RGD associated with Insulin Resistance;protein:increased expression:plasma PMID:19592617|REF_RGD_ID:2313974 12435652 GFM2 GTP dependent ribosome recycling factor mitochondrial 2 gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1603941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 PMID:28492532|PMID:29075935 12435652 GFM2 GTP dependent ribosome recycling factor mitochondrial 2 gene DOID:0111475 combined oxidative phosphorylation deficiency 39 ISO RGD:1603941 D RGD:7240710 20190515 OMIM 12435652 GFM2 GTP dependent ribosome recycling factor mitochondrial 2 gene DOID:0111475 combined oxidative phosphorylation deficiency 39 ISO RGD:1603941 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 39 PMID:17576681|PMID:22700954|PMID:25741868|PMID:26016410|PMID:28492532|PMID:29075935|PMID:9536098 12435652 GFM2 GTP dependent ribosome recycling factor mitochondrial 2 gene DOID:3323 Sandhoff disease ISO RGD:1603941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:18758829|PMID:28492532|PMID:7550345 12435652 GFM2 GTP dependent ribosome recycling factor mitochondrial 2 gene DOID:630 genetic disease ISO RGD:1603941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22700954|PMID:25741868|PMID:28492532 12435652 GFM2 GTP dependent ribosome recycling factor mitochondrial 2 gene DOID:700 mitochondrial metabolism disease ISO RGD:1603941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:28492532|PMID:29075935 12435652 GFM2 GTP dependent ribosome recycling factor mitochondrial 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12435687 SPDL1 spindle apparatus coiled-coil protein 1 gene DOID:0111951 immunodeficiency 40 ISO RGD:1606284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 12435687 SPDL1 spindle apparatus coiled-coil protein 1 gene DOID:630 genetic disease ISO RGD:1606284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435687 SPDL1 spindle apparatus coiled-coil protein 1 gene DOID:9008539 Perinatal Death ISO RGD:1606284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal death PMID:25558065 12435718 GTF2B general transcription factor IIB gene DOID:630 genetic disease ISO RGD:731364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435729 RPF1 ribosome production factor 1 homolog gene DOID:630 genetic disease ISO RGD:1602209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435742 METTL2A methyltransferase 2A, methylcytidine gene DOID:630 genetic disease ISO RGD:1601800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435768 SLC30A8 solute carrier family 30 member 8 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1317968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:24584071|PMID:31676859 12435768 SLC30A8 solute carrier family 30 member 8 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1317968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 12435768 SLC30A8 solute carrier family 30 member 8 gene DOID:206 hereditary multiple exostoses ISO RGD:1317968 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 12435768 SLC30A8 solute carrier family 30 member 8 gene DOID:630 genetic disease ISO RGD:1317968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12435768 SLC30A8 solute carrier family 30 member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:17293876|PMID:17460697|PMID:17463246|PMID:17463248|PMID:17463249|PMID:24584071|PMID:31676859 12435768 SLC30A8 solute carrier family 30 member 8 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1317968 D RGD:7240710 20230505 OMIM 12435782 OR2L5 olfactory receptor family 2 subfamily L member 5 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1346281 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 12435782 OR2L5 olfactory receptor family 2 subfamily L member 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1346281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12435782 OR2L5 olfactory receptor family 2 subfamily L member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12435782 OR2L5 olfactory receptor family 2 subfamily L member 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12435785 ZDHHC17 zinc finger DHHC-type palmitoyltransferase 17 gene DOID:12858 Huntington's disease ISO RGD:1557918 D RGD:9068941 20220825 MouseDO OMIM:143100 12435785 ZDHHC17 zinc finger DHHC-type palmitoyltransferase 17 gene DOID:630 genetic disease ISO RGD:1351838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435807 SLC4A7 solute carrier family 4 member 7 gene DOID:0110839 Usher syndrome type 2C ISO RGD:736860 D RGD:9068941 20220825 MouseDO OMIM:605472 12435807 SLC4A7 solute carrier family 4 member 7 gene DOID:3910 lung adenocarcinoma ISO RGD:730989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12435807 SLC4A7 solute carrier family 4 member 7 gene DOID:630 genetic disease ISO RGD:730989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435807 SLC4A7 solute carrier family 4 member 7 gene DOID:9006205 Animal Disease Models ISO RGD:730989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 12435842 LRRC49 leucine rich repeat containing 49 gene DOID:2717 Bloom syndrome ISO RGD:1606554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12435842 LRRC49 leucine rich repeat containing 49 gene DOID:630 genetic disease ISO RGD:1606554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435842 LRRC49 leucine rich repeat containing 49 gene DOID:9256 colorectal cancer ISO RGD:1606554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12435864 CABCOCO1 ciliary associated calcium binding coiled-coil 1 gene DOID:9005369 Hepatomegaly ISO RGD:1315529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 12435877 COG8 component of oligomeric golgi complex 8 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1316049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 12435877 COG8 component of oligomeric golgi complex 8 gene DOID:0070260 congenital disorder of glycosylation type IIh ISO RGD:1316049 D RGD:7240710 20180130 OMIM 12435877 COG8 component of oligomeric golgi complex 8 gene DOID:0070260 congenital disorder of glycosylation type IIh ISO RGD:1316049 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CDG IIh | ClinVar Annotator: match by term: COG8-CDG PMID:16199547|PMID:17220172|PMID:17331980|PMID:21811164|PMID:23806237|PMID:25741868|PMID:28492532|PMID:30690882 12435877 COG8 component of oligomeric golgi complex 8 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1316049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 12435877 COG8 component of oligomeric golgi complex 8 gene DOID:630 genetic disease ISO RGD:1316049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12435886 TOR3A torsin family 3 member A gene DOID:1540 parathyroid carcinoma ISO RGD:1320812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12435886 TOR3A torsin family 3 member A gene DOID:630 genetic disease ISO RGD:1320812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435886 TOR3A torsin family 3 member A gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1320812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 12435886 TOR3A torsin family 3 member A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12435899 SLC13A2 solute carrier family 13 member 2 gene DOID:630 genetic disease ISO RGD:736607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435919 NAP1L5 nucleosome assembly protein 1 like 5 gene DOID:630 genetic disease ISO RGD:1348887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435919 NAP1L5 nucleosome assembly protein 1 like 5 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1348887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 12435919 NAP1L5 nucleosome assembly protein 1 like 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12435925 DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1349519 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:25741868|PMID:28492532 12435925 DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:0080307 myofibrillar myopathy ISO RGD:1349519 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant PMID:26467025|PMID:27642634|PMID:28422763|PMID:28492532 12435925 DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1 ISO RGD:1349519 D RGD:7240710 20180130 OMIM 12435925 DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1 ISO RGD:1349519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 1 PMID:10489050|PMID:17576681|PMID:20682716|PMID:21376592|PMID:22334415|PMID:22366786|PMID:23394708|PMID:24033266|PMID:24594375|PMID:24920671|PMID:25214167|PMID:25306414|PMID:25741868|PMID:26205529|PMID:26338452|PMID:26362252|PMID:26371419|PMID:26467025|PMID:26847086|PMID:27642634|PMID:27671536|PMID:28233300|PMID:28422763|PMID:28492532|PMID:28794355|PMID:28973549|PMID:29437287|PMID:29970176|PMID:30564623|PMID:30838352|PMID:31034989|PMID:31955980|PMID:32528171|PMID:8533766|PMID:9536098|PMID:9973293 12435925 DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1349519 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:22354285|PMID:22683912|PMID:23370340|PMID:24095820|PMID:28284480|PMID:28492532|PMID:28588853|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32677110 12435925 DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1349519 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 12435925 DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:12849 autistic disorder ISO RGD:1349519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12435925 DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:14330 Parkinson's disease ISO RGD:1349519 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease PMID:25741868|PMID:28492532 12435925 DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:630 genetic disease ISO RGD:1349519 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12435925 DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:9005532 Muscle Weakness ISO RGD:1349519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868|PMID:28492532 12435944 ANGPTL7 angiopoietin like 7 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1350833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 12435944 ANGPTL7 angiopoietin like 7 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1350833 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 12435944 ANGPTL7 angiopoietin like 7 gene DOID:0111936 immunodeficiency 14 ISO RGD:1350833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 12435944 ANGPTL7 angiopoietin like 7 gene DOID:630 genetic disease ISO RGD:1350833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435944 ANGPTL7 angiopoietin like 7 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1350833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 12435953 TMEM89 transmembrane protein 89 gene DOID:630 genetic disease ISO RGD:1606359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435953 TMEM89 transmembrane protein 89 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1606359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 12435953 TMEM89 transmembrane protein 89 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1606359 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 12435958 PRKCE protein kinase C epsilon gene DOID:0050700 cardiomyopathy ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15242976 12435958 PRKCE protein kinase C epsilon gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29341352 12435958 PRKCE protein kinase C epsilon gene DOID:10763 hypertension ISO RGD:61925 D RGD:9068941 20200609 RGD PMID:15792354|REF_RGD_ID:1581271 12435958 PRKCE protein kinase C epsilon gene DOID:303 substance-related disorder ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12435958 PRKCE protein kinase C epsilon gene DOID:3883 Lynch syndrome ISO RGD:736442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12435958 PRKCE protein kinase C epsilon gene DOID:4248 coronary stenosis ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16782078 12435958 PRKCE protein kinase C epsilon gene DOID:574 peripheral nervous system disease ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20726883 12435958 PRKCE protein kinase C epsilon gene DOID:5844 myocardial infarction ISO RGD:62218 D RGD:9068941 20230202 RGD RNA:decreased expression:myocardium: PMID:28887629|REF_RGD_ID:155882580 12435958 PRKCE protein kinase C epsilon gene DOID:5844 myocardial infarction ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16782078 12435958 PRKCE protein kinase C epsilon gene DOID:630 genetic disease ISO RGD:736442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12435958 PRKCE protein kinase C epsilon gene DOID:9002165 Diabetic Nephropathies ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20665664 12435958 PRKCE protein kinase C epsilon gene DOID:9002211 Hyperalgesia ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11738263|PMID:12582831|PMID:20457222 12435958 PRKCE protein kinase C epsilon gene DOID:9003936 Cardiomegaly ISO RGD:61925 D RGD:9068941 20200609 RGD PMID:15792354|REF_RGD_ID:1581271 12435958 PRKCE protein kinase C epsilon gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12198386 12435958 PRKCE protein kinase C epsilon gene DOID:9007102 Myocardial Ischemia ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12435958 PRKCE protein kinase C epsilon gene DOID:9007188 Liver Neoplasms ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 12435958 PRKCE protein kinase C epsilon gene DOID:9008443 Colorectal Neoplasms ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7705931 12435958 PRKCE protein kinase C epsilon gene DOID:9352 type 2 diabetes mellitus ISO RGD:61925 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver: PMID:26398746|REF_RGD_ID:13506804 12435983 NUBP2 NUBP iron-sulfur cluster assembly factor 2, cytosolic gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1312953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 12435983 NUBP2 NUBP iron-sulfur cluster assembly factor 2, cytosolic gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312953 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 12435983 NUBP2 NUBP iron-sulfur cluster assembly factor 2, cytosolic gene DOID:1826 epilepsy ISO RGD:1312953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 12435983 NUBP2 NUBP iron-sulfur cluster assembly factor 2, cytosolic gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 12435983 NUBP2 NUBP iron-sulfur cluster assembly factor 2, cytosolic gene DOID:630 genetic disease ISO RGD:1312953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12436018 SRF serum response factor gene DOID:0050444 infantile Refsum disease ISO RGD:1321393 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12436018 SRF serum response factor gene DOID:0050700 cardiomyopathy ISO RGD:1321393 D RGD:9068941 20200609 RGD PMID:12874181|REF_RGD_ID:1581473 12436018 SRF serum response factor gene DOID:10763 hypertension ISO RGD:1559787 D RGD:9068941 20200609 RGD PMID:16822834|REF_RGD_ID:1580749 12436018 SRF serum response factor gene DOID:12930 dilated cardiomyopathy ISO RGD:1321394 D RGD:9068941 20200609 RGD PMID:16260633|REF_RGD_ID:1580754 12436018 SRF serum response factor gene DOID:12930 dilated cardiomyopathy ISO RGD:1321394 D RGD:9068941 20220825 MouseDO 12436018 SRF serum response factor gene DOID:14566 disease of cellular proliferation ISO RGD:1321393 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17116645 12436018 SRF serum response factor gene DOID:3319 lymphangioleiomyomatosis ISO RGD:1321393 D RGD:9068941 20200609 RGD PMID:12654640|REF_RGD_ID:1580753 12436018 SRF serum response factor gene DOID:3319 lymphangioleiomyomatosis ISO RGD:1321394 D RGD:9068941 20200609 RGD PMID:12654640|REF_RGD_ID:1580753 12436018 SRF serum response factor gene DOID:4989 pancreatitis ISO RGD:1321394 D RGD:9068941 20200609 RGD PMID:16894357|REF_RGD_ID:1581427 12436018 SRF serum response factor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1321393 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12436018 SRF serum response factor gene DOID:6000 congestive heart failure ISO RGD:1321393 D RGD:9068941 20200609 RGD mRNA, protein:splice variant:heart PMID:11893590|REF_RGD_ID:1581426 12436018 SRF serum response factor gene DOID:630 genetic disease ISO RGD:1321393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12436018 SRF serum response factor gene DOID:684 hepatocellular carcinoma ISO RGD:1559787 D RGD:9068941 20200609 RGD PMID:9570363|REF_RGD_ID:1581428 12436018 SRF serum response factor gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1321394 D RGD:9068941 20200609 RGD PMID:15569937|REF_RGD_ID:1581424 12436018 SRF serum response factor gene DOID:9003936 Cardiomegaly ISO RGD:1321393 D RGD:9068941 20200609 RGD PMID:12909581|REF_RGD_ID:1581425 12436018 SRF serum response factor gene DOID:905 Zellweger syndrome ISO RGD:1321393 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 12436032 TIPIN TIMELESS interacting protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1606275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 12436032 TIPIN TIMELESS interacting protein gene DOID:2717 Bloom syndrome ISO RGD:1606275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12436032 TIPIN TIMELESS interacting protein gene DOID:630 genetic disease ISO RGD:1606275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12436032 TIPIN TIMELESS interacting protein gene DOID:9256 colorectal cancer ISO RGD:1606275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12436050 CAMK4 calcium/calmodulin dependent protein kinase IV gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731356 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12436050 CAMK4 calcium/calmodulin dependent protein kinase IV gene DOID:1059 intellectual disability ISO RGD:731356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30262571 12436050 CAMK4 calcium/calmodulin dependent protein kinase IV gene DOID:12336 male infertility ISO RGD:735406 D RGD:9068941 20200609 RGD PMID:10932193|REF_RGD_ID:734683 12436050 CAMK4 calcium/calmodulin dependent protein kinase IV gene DOID:630 genetic disease ISO RGD:731356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12436050 CAMK4 calcium/calmodulin dependent protein kinase IV gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12436050 CAMK4 calcium/calmodulin dependent protein kinase IV gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19001277 12436050 CAMK4 calcium/calmodulin dependent protein kinase IV gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 12436050 CAMK4 calcium/calmodulin dependent protein kinase IV gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731356 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12436067 CRK CRK proto-oncogene, adaptor protein gene DOID:0060432 chromosome 17p13.3 duplication syndrome ISO RGD:736380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome PMID:21681106 12436067 CRK CRK proto-oncogene, adaptor protein gene DOID:630 genetic disease ISO RGD:736380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12436067 CRK CRK proto-oncogene, adaptor protein gene DOID:90 degenerative disc disease treatment ISO RGD:2405 D RGD:9068941 20200609 RGD PMID:23055810|REF_RGD_ID:11568070 12436067 CRK CRK proto-oncogene, adaptor protein gene DOID:9007102 Myocardial Ischemia ISO RGD:736380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 12436078 ABHD13 abhydrolase domain containing 13 gene DOID:630 genetic disease ISO RGD:1318018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12436078 ABHD13 abhydrolase domain containing 13 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1318018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 12436084 SORBS1 sorbin and SH3 domain containing 1 gene DOID:10283 prostate cancer ISO RGD:1320080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 12436084 SORBS1 sorbin and SH3 domain containing 1 gene DOID:630 genetic disease ISO RGD:1320080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12436084 SORBS1 sorbin and SH3 domain containing 1 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:1320081 D RGD:9068941 20200609 RGD PMID:17351624|REF_RGD_ID:1642731 12436084 SORBS1 sorbin and SH3 domain containing 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1320080 D RGD:9068941 20200609 RGD DNA:SNP: :p.T228A (human) PMID:11532984|REF_RGD_ID:1642744 12436084 SORBS1 sorbin and SH3 domain containing 1 gene DOID:9970 obesity ISO RGD:1320080 D RGD:9068941 20200609 RGD DNA:SNP: :p.T228A (human) PMID:11532984|REF_RGD_ID:1642744 12436160 AGAP3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1321839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 12436160 AGAP3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 gene DOID:2843 long QT syndrome ISO RGD:1321839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 12436160 AGAP3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 gene DOID:630 genetic disease ISO RGD:1321839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12436190 PUS7 pseudouridine synthase 7 gene DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature ISO RGD:1603643 D RGD:7240710 20191002 OMIM 12436190 PUS7 pseudouridine synthase 7 gene DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature ISO RGD:1603643 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature PMID:25741868|PMID:28492532|PMID:30526862|PMID:30778726|PMID:35144859 12436190 PUS7 pseudouridine synthase 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12436190 PUS7 pseudouridine synthase 7 gene DOID:630 genetic disease ISO RGD:1603643 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:35144859 12436218 TUBGCP4 tubulin gamma complex associated protein 4 gene DOID:0080105 microcephaly and chorioretinopathy 1 ISO RGD:1603663 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 12436218 TUBGCP4 tubulin gamma complex associated protein 4 gene DOID:0080107 microcephaly and chorioretinopathy 3 ISO RGD:1603663 D RGD:7240710 20180130 OMIM 12436218 TUBGCP4 tubulin gamma complex associated protein 4 gene DOID:0080107 microcephaly and chorioretinopathy 3 ISO RGD:1603663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3 PMID:16199547|PMID:24033266|PMID:25741868|PMID:25817018|PMID:28492532 12436218 TUBGCP4 tubulin gamma complex associated protein 4 gene DOID:2717 Bloom syndrome ISO RGD:1603663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 12436218 TUBGCP4 tubulin gamma complex associated protein 4 gene DOID:630 genetic disease ISO RGD:1603663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 12436218 TUBGCP4 tubulin gamma complex associated protein 4 gene DOID:9256 colorectal cancer ISO RGD:1603663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 12436240 MIR181C microRNA mir-181c gene DOID:14330 Parkinson's disease ISO RGD:1350100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28770951 12436240 MIR181C microRNA mir-181c gene DOID:1883 hepatitis C ISO RGD:1350100 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver (human) PMID:24789793|REF_RGD_ID:15042895 12436240 MIR181C microRNA mir-181c gene DOID:1883 hepatitis C ISO RGD:1608232 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver (human) PMID:24789793|REF_RGD_ID:15042895 12436240 MIR181C microRNA mir-181c gene DOID:1883 hepatitis C ISO RGD:2325381 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver (human) PMID:24789793|REF_RGD_ID:15042895 12436240 MIR181C microRNA mir-181c gene DOID:4989 pancreatitis ISO RGD:1350100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 12436240 MIR181C microRNA mir-181c gene DOID:684 hepatocellular carcinoma ISO RGD:1350100 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver (human) PMID:31114379|REF_RGD_ID:15042894 12436240 MIR181C microRNA mir-181c gene DOID:684 hepatocellular carcinoma ISO RGD:1608232 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver (human) PMID:31114379|REF_RGD_ID:15042894 12436240 MIR181C microRNA mir-181c gene DOID:684 hepatocellular carcinoma ISO RGD:2325381 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver (human) PMID:31114379|REF_RGD_ID:15042894 12436240 MIR181C microRNA mir-181c gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 12436240 MIR181C microRNA mir-181c gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1350100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 12436240 MIR181C microRNA mir-181c gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12436240 MIR181C microRNA mir-181c gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1350100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 12436240 MIR181C microRNA mir-181c gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12436243 MIR17 microRNA mir-17 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1348634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 12436243 MIR17 microRNA mir-17 gene DOID:117 heart cancer ameliorates ISO RGD:1607616 D RGD:9068941 20230330 RGD PMID:30843379|REF_RGD_ID:242905197 12436243 MIR17 microRNA mir-17 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1348634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12436243 MIR17 microRNA mir-17 gene DOID:1936 atherosclerosis treatment ISO RGD:1607616 D RGD:9068941 20230504 RGD PMID:30850242|REF_RGD_ID:329349304 12436243 MIR17 microRNA mir-17 gene DOID:4001 ovarian carcinoma ISO RGD:1348634 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:30365097 12436243 MIR17 microRNA mir-17 gene DOID:6000 congestive heart failure ISO RGD:1348634 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 12436243 MIR17 microRNA mir-17 gene DOID:8947 diabetic retinopathy treatment ISO RGD:1607616 D RGD:9068941 20230504 RGD PMID:33333415|REF_RGD_ID:329349303 12436243 MIR17 microRNA mir-17 gene DOID:9001820 Pulmonary Arterial Hypertension severity ISO RGD:1348634 D RGD:9068941 20230504 RGD miRNA:increased expression:blood PMID:32600075|REF_RGD_ID:329349306 12436243 MIR17 microRNA mir-17 gene DOID:9002211 Hyperalgesia severity ISO RGD:2325600 D RGD:9068941 20230504 RGD PMID:26222740|REF_RGD_ID:11074685 12436243 MIR17 microRNA mir-17 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1607616 D RGD:9068941 20230504 RGD PMID:35085690|REF_RGD_ID:329349305 12436243 MIR17 microRNA mir-17 gene DOID:9006175 Peritoneal Diseases ISO RGD:1348634 D RGD:9068941 20200609 RGD associated with end stage renal failure PMID:30598338|REF_RGD_ID:25823143 12436243 MIR17 microRNA mir-17 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 12436243 MIR17 microRNA mir-17 gene DOID:9008212 Diabetic Foot ISO RGD:1348634 D RGD:9068941 20230504 RGD PMID:36333728|REF_RGD_ID:329349308 12436243 MIR17 microRNA mir-17 gene DOID:9256 colorectal cancer ISO RGD:1348634 D RGD:9068941 20220929 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 12436243 MIR17 microRNA mir-17 gene DOID:9452 fatty liver disease ISO RGD:1348634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 12436243 MIR17 microRNA mir-17 gene DOID:9538 multiple myeloma disease_progression ISO RGD:1348634 D RGD:9068941 20230504 RGD miRNA:increased expression:plasma cell PMID:23718138|REF_RGD_ID:329337383 12436243 Mir17 microRNA 17 gene DOID:9001553 Spinal Cord Compression treatment ISO RGD:2325600 D RGD:9068941 20230518 RGD PMID:31115018|REF_RGD_ID:329403058 12436243 Mir17 microRNA 17 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2325600 D RGD:9068941 20230518 RGD PMID:28177765|REF_RGD_ID:329403059 12436243 Mir17 microRNA 17 gene DOID:9408 acute myocardial infarction treatment ISO RGD:2325600 D RGD:9068941 20230518 RGD PMID:29536180|REF_RGD_ID:329403057 12436256 LOC102153419 proline-rich protein 33-like gene DOID:0080773 delta beta-thalassemia ISO RGD:9588192 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 12436262 ZC3HAV1L zinc finger CCCH-type containing, antiviral 1 like gene DOID:0080690 RASopathy ISO RGD:1601938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 12436262 ZC3HAV1L zinc finger CCCH-type containing, antiviral 1 like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12436262 ZC3HAV1L zinc finger CCCH-type containing, antiviral 1 like gene DOID:630 genetic disease ISO RGD:1601938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:0050700 cardiomyopathy ISO RGD:61312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:heart myocardium, serum PMID:17982970|REF_RGD_ID:2290406 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:733906 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:14744773|REF_RGD_ID:2290436 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:10283 prostate cancer ISO RGD:733906 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, prostate gland PMID:17325663|REF_RGD_ID:2290397 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:733906 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18329693|REF_RGD_ID:2290389 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:10652 Alzheimer's disease ISO RGD:733906 D RGD:9068941 20200609 RGD PMID:12614934|REF_RGD_ID:1580169 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:10762 portal hypertension ISO RGD:61312 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis, Experimental PMID:17351970|REF_RGD_ID:2290408 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:10941 intracranial aneurysm ISO RGD:61312 D RGD:9068941 20200609 RGD mRNA:increased expression:blood vessel PMID:17569872|REF_RGD_ID:2290352 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:11054 urinary bladder cancer ISO RGD:733906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30548095 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:11054 urinary bladder cancer ISO RGD:733906 D RGD:9068941 20200609 RGD PMID:17466450|REF_RGD_ID:2290395 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:733906 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17374529|REF_RGD_ID:2298521 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:733906 D RGD:9068941 20200609 RGD PMID:15616792|REF_RGD_ID:1580161 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733906 D RGD:9068941 20200609 RGD PMID:15056834|REF_RGD_ID:1580653 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:12858 Huntington's disease ISO RGD:733906 D RGD:9068941 20200609 RGD PMID:12614934|REF_RGD_ID:1580169 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:13099 Moyamoya disease ISO RGD:733906 D RGD:9068941 20200609 RGD PMID:16723886|REF_RGD_ID:1580650 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:733906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733906 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:14323 Marfan syndrome ISO RGD:733906 D RGD:9068941 20200609 RGD associated with thoracic aortic aneurysm;protein:increased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:1532 pleural disease ISO RGD:733906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:182 calcinosis ISO RGD:733906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:2006 preretinal fibrosis ISO RGD:733906 D RGD:9068941 20200609 RGD PMID:11004090|REF_RGD_ID:2312481 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:2671 transitional cell carcinoma ISO RGD:733906 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16901349|REF_RGD_ID:2290349 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:733906 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium PMID:17009991|REF_RGD_ID:2290360 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:3744 cervical squamous cell carcinoma ISO RGD:733906 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:16619570|REF_RGD_ID:2290402 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:4450 renal cell carcinoma ISO RGD:733906 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:18035688|REF_RGD_ID:2290358 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:733906 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17572184|REF_RGD_ID:2290359 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:5844 myocardial infarction ISO RGD:733906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:6000 congestive heart failure ISO RGD:61312 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:10773234|REF_RGD_ID:2290467 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:630 genetic disease ISO RGD:733906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733906 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:17505812|REF_RGD_ID:2290394 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:9000998 Brain Injuries ISO RGD:61312 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, neuron, microglial cell PMID:10719361|REF_RGD_ID:2290468 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:61312 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:17491697|REF_RGD_ID:2290407 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:9002498 Wallerian Degeneration ISO RGD:61312 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:dorsal root ganglion PMID:16683235|REF_RGD_ID:1600154 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:733906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:9004610 Acute Lung Injury severity ISO RGD:61312 D RGD:9068941 20200609 RGD PMID:10092827|REF_RGD_ID:9999422 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:9005463 Occupational Diseases ISO RGD:733906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21963884 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:733906 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:17642161|REF_RGD_ID:2290392 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:733906 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17240786|REF_RGD_ID:2290398 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:9212 pityriasis rubra pilaris ISO RGD:733906 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 12436345 TIMP2 TIMP metallopeptidase inhibitor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733906 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17020653|REF_RGD_ID:2312468 12436352 ATP1B1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:10003 sensorineural hearing loss ISO RGD:2170 D RGD:9068941 20200609 RGD protein:decreased expression:cochlea: PMID:23827367|REF_RGD_ID:7349365 12436352 ATP1B1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:10825 essential hypertension ISO RGD:735774 D RGD:7240710 20180130 OMIM 12436352 ATP1B1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:1540 parathyroid carcinoma ISO RGD:735774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12436352 ATP1B1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:303 substance-related disorder ISO RGD:735774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 12436352 ATP1B1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:630 genetic disease ISO RGD:735774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12436352 ATP1B1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:735774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 12436352 ATP1B1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:735774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 12436352 ATP1B1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:9008086 Developmental Disabilities ISO RGD:735774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 12436352 ATP1B1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:9119 acute myeloid leukemia ISO RGD:735774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 12436352 ATP1B1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12436361 MYLK3 myosin light chain kinase 3 gene DOID:0060897 Parkinson's disease 17 ISO RGD:1604762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease 17 PMID:28492532 12436361 MYLK3 myosin light chain kinase 3 gene DOID:0111041 glycogen storage disease IXb ISO RGD:1604762 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 12436361 MYLK3 myosin light chain kinase 3 gene DOID:630 genetic disease ISO RGD:1604762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12436378 METAP2 methionyl aminopeptidase 2 gene DOID:630 genetic disease ISO RGD:732103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12436399 SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor gene DOID:630 genetic disease ISO RGD:1345880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12436399 SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor gene DOID:9003692 NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES ISO RGD:1345880 D RGD:7240710 20221214 OMIM 12436399 SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor gene DOID:9003692 NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES ISO RGD:1345880 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dystonia and seizures PMID:34542157 12436399 SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor gene DOID:9007245 Dystonia 35, Childhood-Onset ISO RGD:1345880 D RGD:7240710 20220629 OMIM 12436399 SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor gene DOID:9007245 Dystonia 35, Childhood-Onset ISO RGD:1345880 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Dystonia 35, childhood-onset PMID:34542157 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:0050700 cardiomyopathy ISO RGD:733895 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12967636 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:0060789 hypomyelinating leukodystrophy 4 ISO RGD:733895 D RGD:7240710 20180130 OMIM 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:0060789 hypomyelinating leukodystrophy 4 ISO RGD:733895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4 PMID:18571143|PMID:24033266|PMID:25741868|PMID:27405012|PMID:28492532 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:733895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:0110766 hereditary spastic paraplegia 13 ISO RGD:733895 D RGD:7240710 20180130 OMIM 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:0110766 hereditary spastic paraplegia 13 ISO RGD:733895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 13 PMID:10677329|PMID:12483302|PMID:17420924|PMID:18414213|PMID:21520333|PMID:22552817|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:10603 glucose intolerance disease_progression ISO RGD:733895 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis; PMID:11591125|REF_RGD_ID:12910474 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:10652 Alzheimer's disease ISO RGD:621314 D RGD:9068941 20200609 RGD protein:increased modification:brain PMID:15802185|REF_RGD_ID:1624243 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:10652 Alzheimer's disease ISO RGD:733895 D RGD:9068941 20200609 RGD protein:increased expression:mitochondrion: PMID:22753410|REF_RGD_ID:10402831 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:10652 Alzheimer's disease ISO RGD:733896 D RGD:9068941 20200609 RGD protein:increased expression:cytosol, mitochondrion: PMID:22753410|REF_RGD_ID:10402831 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:10763 hypertension ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:18948349|REF_RGD_ID:10402862 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:10763 hypertension ISO RGD:621314 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, blood vessel PMID:15729290|REF_RGD_ID:1624213 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:10908 hydrocephalus ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:15964663|REF_RGD_ID:1624238 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9527842 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:12337 varicocele ISO RGD:621314 D RGD:9068941 20200609 RGD mRNA:increased expression:spermatid PMID:15804863|REF_RGD_ID:1624240 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:12849 autistic disorder ISO RGD:733895 D RGD:9068941 20200609 RGD PMID:15138176|REF_RGD_ID:12910475 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:13544 low tension glaucoma ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:20858111|REF_RGD_ID:10402863 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:14250 Down syndrome ISO RGD:733895 D RGD:9068941 20200609 RGD PMID:12515899|REF_RGD_ID:10402838 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:14330 Parkinson's disease ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:23943523|REF_RGD_ID:10402846 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:1485 cystic fibrosis ISO RGD:733895 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:8255671|REF_RGD_ID:12910480 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:2349 arteriosclerosis ISO RGD:733895 D RGD:9068941 20200609 RGD PMID:17070529|REF_RGD_ID:1624204 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:733895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:18414213|PMID:22552817|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27630992|PMID:28166811|PMID:28492532|PMID:28832565 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:733895 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:22552817|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27630992|PMID:28492532|PMID:28832565 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:2476 hereditary spastic paraplegia susceptibility ISO RGD:733895 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.V72I PMID:11898127|REF_RGD_ID:1624200 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:299 adenocarcinoma ISO RGD:733895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:3393 coronary artery disease severity ISO RGD:733895 D RGD:9068941 20200609 RGD PMID:11222468|REF_RGD_ID:1624218 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:3407 carotid artery disease ISO RGD:733895 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16579988|REF_RGD_ID:1581882 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:733895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:3770 pulmonary fibrosis ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:11746186|REF_RGD_ID:12910545 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:4195 hyperglycemia ISO RGD:621314 D RGD:9068941 20200609 RGD protein:increased expression PMID:15961182|REF_RGD_ID:1624212 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:4450 renal cell carcinoma ISO RGD:733895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:5844 myocardial infarction ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:17202668|REF_RGD_ID:1624230 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:607 paraplegia ISO RGD:733895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:17420924|PMID:17576681|PMID:18414213|PMID:21520333|PMID:22552817|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26467025|PMID:27630992|PMID:28492532|PMID:28832565|PMID:9536098 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733895 D RGD:9068941 20200609 RGD protein:increased expression:serum,synovial fluid: PMID:8255671|REF_RGD_ID:12910480 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:7148 rheumatoid arthritis ISO RGD:733895 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood leukocyte: PMID:21417552|REF_RGD_ID:10402843 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:733895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696|PMID:19424620 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:621314 D RGD:9068941 20200609 RGD mRNA:increased expression:brain stem PMID:14753490|REF_RGD_ID:1624246 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9000528 Coronary Disease ISO RGD:733895 D RGD:9068941 20200609 RGD PMID:12059985|REF_RGD_ID:1624217 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:733895 D RGD:9068941 20200609 RGD PMID:12921987|REF_RGD_ID:1624216 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9001205 Experimental Autoimmune Orchitis ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:16092147|REF_RGD_ID:1624236 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:733895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9001916 Fetal Death ISO RGD:733896 D RGD:9068941 20200609 RGD PMID:20393889|REF_RGD_ID:12910472 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9002457 Experimental Arthritis ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:10882416|PMID:15529360|REF_RGD_ID:12910542|REF_RGD_ID:1624244 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9002669 Hypoxia ISO RGD:621314 D RGD:9068941 20200609 RGD associated with Brain Injuries;mRNA:increased expression:brain PMID:17439344|REF_RGD_ID:1624228 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9004283 Transplant Rejection ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:23953577|REF_RGD_ID:12910541 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9004397 calcification of aortic valve severity ISO RGD:733895 D RGD:9068941 20200609 RGD PMID:15120829|REF_RGD_ID:12910476 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9004484 Sepsis ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:23143056|REF_RGD_ID:10402864 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9004484 Sepsis ISO RGD:621314 D RGD:9068941 20200609 RGD associated with burns;protein:decreased expression:skeletal muscle PMID:16483253|REF_RGD_ID:1624233 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9005005 Oral Ulcer ISO RGD:733895 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;protein:increased expression:muccal mucosa: PMID:20580281|REF_RGD_ID:12910477 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:733896 D RGD:9068941 20200609 RGD PMID:8881756|REF_RGD_ID:12910478 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:17280490|REF_RGD_ID:1624229 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9005930 Endotoxemia ISO RGD:621314 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:medulla oblongata PMID:16675490|REF_RGD_ID:1624232 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9005930 Endotoxemia ISO RGD:733895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16741687 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:621314 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:12872233|REF_RGD_ID:1624250 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9007355 Hashimoto Disease ISO RGD:733895 D RGD:9068941 20200609 RGD protein:increased expression:throcyte: PMID:9161695|REF_RGD_ID:12910543 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9007692 Insulin Resistance ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:18948349|REF_RGD_ID:10402862 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9008217 Hemorrhage ISO RGD:621314 D RGD:9068941 20200609 RGD associated with Wounds and Injuries;mRNA, protein:decreased expression:heart PMID:16288780|REF_RGD_ID:1624234 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:733895 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:8255671|REF_RGD_ID:12910480 12436414 HSPD1 heat shock protein family D (Hsp60) member 1 gene DOID:9663 aphthous stomatitis ISO RGD:733895 D RGD:9068941 20200609 RGD protein:increased expression:muccal mucosa: PMID:20580281|REF_RGD_ID:12910477 12436448 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:0050589 inflammatory bowel disease ISO RGD:736886 D RGD:9068941 20200609 RGD protein, mRNA:increased expression: colonic mucosa: inflamed tissue only PMID:16195422|REF_RGD_ID:5688766 12436448 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:14283 primary hypertrophic osteoarthropathy ISO RGD:736886 D RGD:7240710 20180130 OMIM 12436448 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:14283 primary hypertrophic osteoarthropathy ISO RGD:736886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioosteoarthropathy | ClinVar Annotator: match by term: Isolated congenital digital clubbing PMID:17551338|PMID:18500342|PMID:18805827|PMID:19306095|PMID:25741868|PMID:28492532|PMID:32282352|PMID:9402870 12436448 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:1520 colon carcinoma ISO RGD:736886 D RGD:9068941 20200609 RGD DNA:::adenoviral delivery of human gene in mouse model of colon cancer PMID:19494278|REF_RGD_ID:5688759 12436448 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:305 carcinoma treatment ISO RGD:620087 D RGD:9068941 20200609 RGD PMID:18058808|REF_RGD_ID:11667092 12436448 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:5394 prolactinoma ISO RGD:736886 D RGD:9068941 20200609 RGD mRNA:decreased expression:pituitary gland PMID:22580984|REF_RGD_ID:11667097 12436448 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:736886 D RGD:9068941 20200609 RGD mRNA:decreased expression:pituitary gland PMID:22580984|REF_RGD_ID:11667097 12436448 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:630 genetic disease ISO RGD:736886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12436448 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:6432 pulmonary hypertension ISO RGD:736886 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:24657469|REF_RGD_ID:11667099 12436448 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:750 peptic ulcer disease treatment ISO RGD:620087 D RGD:9068941 20200609 RGD PMID:23884819|REF_RGD_ID:11667098 12436448 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:9000622 Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 1 ISO RGD:736886 D RGD:7240710 20180130 OMIM 12436448 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:9000622 Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 1 ISO RGD:736886 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 PMID:17551338|PMID:18500342|PMID:19306095|PMID:25741868|PMID:28492532|PMID:29758562|PMID:32282352|PMID:9402870 12436448 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:9000972 Fever ISO RGD:620087 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver, lung PMID:12399253|REF_RGD_ID:2316279 12436448 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:9002304 Prostatic Neoplasms ISO RGD:736886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 12436448 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12436448 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:9004484 Sepsis ISO RGD:736887 D RGD:9068941 20200609 RGD protein: decreased expression PMID:9603077|REF_RGD_ID:5688768 12436448 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:9004547 Thyroid Neoplasms ISO RGD:736886 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11352223 12436448 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:620087 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:24657469|REF_RGD_ID:11667099 12436448 HPGD 15-hydroxyprostaglandin dehydrogenase gene DOID:9006195 Medullary Carcinomas ISO RGD:736886 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11352223 12436457 TAF7 TATA-box binding protein associated factor 7 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1320545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 12436457 TAF7 TATA-box binding protein associated factor 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1320545 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12436457 TAF7 TATA-box binding protein associated factor 7 gene DOID:630 genetic disease ISO RGD:1320545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12436457 TAF7 TATA-box binding protein associated factor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12436457 TAF7 TATA-box binding protein associated factor 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320545 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 12436462 RPGRIP1L RPGRIP1 like gene DOID:0050753 cerebellar ataxia ISO RGD:1603695 D RGD:9068941 20200609 RGD associated with Joubert Syndrome 7;DNA:mutations:exons: PMID:17558409|REF_RGD_ID:11073359 12436462 RPGRIP1L RPGRIP1 like gene DOID:0050777 Joubert syndrome ISO RGD:1603695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:17558407|PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:19574260|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21068128|PMID:21866095|PMID:22331178|PMID:22406018|PMID:22693042|PMID:23188109|PMID:23351400|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26092869|PMID:27434533|PMID:27717089|PMID:28378410|PMID:28492532|PMID:28771248|PMID:29343940|PMID:29620724|PMID:31390572|PMID:31980526|PMID:9536098 12436462 RPGRIP1L RPGRIP1 like gene DOID:0050778 Meckel syndrome ISO RGD:1603695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:17558407|PMID:17558409|PMID:18414213|PMID:19430481|PMID:20301500|PMID:21866095|PMID:25741868|PMID:26092869|PMID:28492532 12436462 RPGRIP1L RPGRIP1 like gene DOID:0060668 anencephaly ISO RGD:1603695 D RGD:9068941 20200609 RGD associated with Meckel Syndrome, Type 5;DNA:mutations:exons: PMID:17558409|REF_RGD_ID:11073359 12436462 RPGRIP1L RPGRIP1 like gene DOID:0070115 Meckel syndrome 1 ISO RGD:1603695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome PMID:17558407|PMID:17558409|PMID:18414213|PMID:19430481|PMID:20301500|PMID:21866095|PMID:25741868|PMID:26092869|PMID:28492532 12436462 RPGRIP1L RPGRIP1 like gene DOID:0070119 Meckel syndrome 5 ISO RGD:1603695 D RGD:7240710 20180130 OMIM 12436462 RPGRIP1L RPGRIP1 like gene DOID:0070119 Meckel syndrome 5 ISO RGD:1603695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 5 PMID:17558407|PMID:17558409|PMID:18414213|PMID:19430481|PMID:20301500|PMID:21068128|PMID:21866095|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:27434533|PMID:28492532|PMID:28771248|PMID:29343940|PMID:31390572 12436462 RPGRIP1L RPGRIP1 like gene DOID:0110414 retinitis pigmentosa 3 severity ISO RGD:1603695 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R744Q (rs2302677)(human) PMID:22183348|REF_RGD_ID:11352374 12436462 RPGRIP1L RPGRIP1 like gene DOID:0110980 Joubert syndrome 1 ISO RGD:1603695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:17558407|PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:19574260|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21866095|PMID:22406018|PMID:22693042|PMID:23188109|PMID:23351400|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26092869|PMID:27434533|PMID:27717089|PMID:28492532|PMID:29343940|PMID:29620724|PMID:29991045|PMID:9536098 12436462 RPGRIP1L RPGRIP1 like gene DOID:0110980 Joubert syndrome 1 ISO RGD:1603695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:17558407|PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:19574260|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21068128|PMID:21866095|PMID:22331178|PMID:22406018|PMID:22693042|PMID:23188109|PMID:23351400|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26092869|PMID:27434533|PMID:27717089|PMID:28378410|PMID:28492532|PMID:28771248|PMID:29343940|PMID:29620724|PMID:31390572|PMID:31980526|PMID:9536098 12436462 RPGRIP1L RPGRIP1 like gene DOID:0110980 Joubert syndrome 1 ISO RGD:1603695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:17558407|PMID:17558409|PMID:18414213|PMID:19430481|PMID:20301500|PMID:21866095|PMID:25741868|PMID:26092869|PMID:28492532 12436462 RPGRIP1L RPGRIP1 like gene DOID:0111002 Joubert syndrome 7 ISO RGD:1603695 D RGD:7240710 20180130 OMIM 12436462 RPGRIP1L RPGRIP1 like gene DOID:0111002 Joubert syndrome 7 ISO RGD:1603695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 7 PMID:16199547|PMID:17558407|PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:19574260|PMID:20301500|PMID:21866095|PMID:23351400|PMID:25741868|PMID:26092869|PMID:27434533|PMID:28492532|PMID:28771248|PMID:29343940|PMID:31390572|PMID:9536098 12436462 RPGRIP1L RPGRIP1 like gene DOID:0111112 nephronophthisis 1 ISO RGD:1603695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:19430481|PMID:20301500|PMID:25741868|PMID:28492532 12436462 RPGRIP1L RPGRIP1 like gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1603695 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:19430481|PMID:20301500|PMID:25741868|PMID:28492532 12436462 RPGRIP1L RPGRIP1 like gene DOID:1059 intellectual disability ISO RGD:1603695 D RGD:9068941 20200609 RGD associated with Joubert Syndrome 7;DNA:mutations:exons: PMID:17558409|REF_RGD_ID:11073359 12436462 RPGRIP1L RPGRIP1 like gene DOID:10907 microcephaly ISO RGD:1603695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 12436462 RPGRIP1L RPGRIP1 like gene DOID:12712 nephronophthisis ISO RGD:1603695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:18414213|PMID:19430481|PMID:20301500|PMID:25741868|PMID:27434533|PMID:28492532|PMID:28771248|PMID:29343940|PMID:31390572 12436462 RPGRIP1L RPGRIP1 like gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1603695 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:19430481|PMID:20301500|PMID:25741868|PMID:28492532 12436462 RPGRIP1L RPGRIP1 like gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603695 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 12436462 RPGRIP1L RPGRIP1 like gene DOID:2786 cerebellar disease ISO RGD:1603695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17558407|PMID:17558409 12436462 RPGRIP1L RPGRIP1 like gene DOID:2975 cystic kidney disease ISO RGD:1603695 D RGD:9068941 20200609 RGD associated with Meckel Syndrome, Type 5;DNA:mutations:exons: PMID:17558409|REF_RGD_ID:11073359 12436462 RPGRIP1L RPGRIP1 like gene DOID:557 kidney disease ISO RGD:1603695 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:18414213|PMID:25741868|PMID:28492532 12436462 RPGRIP1L RPGRIP1 like gene DOID:5614 eye disease ISO RGD:1603695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17558407|PMID:17558409 12436462 RPGRIP1L RPGRIP1 like gene DOID:630 genetic disease ISO RGD:1603695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17558409|PMID:18414213|PMID:25741868|PMID:26092869|PMID:28378410|PMID:28492532 12436462 RPGRIP1L RPGRIP1 like gene DOID:8466 retinal degeneration ISO RGD:1603695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430481 12436462 RPGRIP1L RPGRIP1 like gene DOID:8501 fundus dystrophy ISO RGD:1603695 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 12436462 RPGRIP1L RPGRIP1 like gene DOID:8725 vascular dementia susceptibility ISO RGD:1603695 D RGD:9068941 20200609 RGD DNA:SNPs:introns:rs16952362,rs17214955,rs17803830(human) PMID:22425971|REF_RGD_ID:13204815 12436462 RPGRIP1L RPGRIP1 like gene DOID:9000639 COACH Syndrome 1 ISO RGD:1603695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COACH syndrome 1 PMID:17558407|PMID:17558409|PMID:19430481|PMID:21866095|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28771248|PMID:31390572 12436462 RPGRIP1L RPGRIP1 like gene DOID:9000983 Encephalocele ISO RGD:1603695 D RGD:9068941 20200609 RGD associated with Meckel Syndrome, Type 5;DNA:mutations:exons: PMID:17558409|REF_RGD_ID:11073359 12436462 RPGRIP1L RPGRIP1 like gene DOID:9001591 Ciliary Motility Disorders ISO RGD:1603695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17558407|PMID:17558409 12436462 RPGRIP1L RPGRIP1 like gene DOID:9003081 Growth Retardation, Developmental Delay, Coarse Facies, and Early Death ISO RGD:1603695 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death PMID:28492532 12436462 RPGRIP1L RPGRIP1 like gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1603695 D RGD:9068941 20200609 RGD associated with Meckel Syndrome, Type 5;DNA:mutations:exons: PMID:17558409|REF_RGD_ID:11073359 12436462 RPGRIP1L RPGRIP1 like gene DOID:9007694 COACH Syndrome 3 ISO RGD:1603695 D RGD:7240710 20201223 OMIM 12436462 RPGRIP1L RPGRIP1 like gene DOID:9007694 COACH Syndrome 3 ISO RGD:1603695 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: COACH syndrome 3 PMID:17558409|PMID:19574260|PMID:25741868|PMID:26092869|PMID:28492532 12436496 RGS1 regulator of G protein signaling 1 gene DOID:0080600 COVID-19 ISO RGD:735445 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 12436496 RGS1 regulator of G protein signaling 1 gene DOID:1540 parathyroid carcinoma ISO RGD:735445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 12436496 RGS1 regulator of G protein signaling 1 gene DOID:3042 allergic contact dermatitis ISO RGD:735445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 12436496 RGS1 regulator of G protein signaling 1 gene DOID:3347 osteosarcoma ISO RGD:735445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14767549 12436496 RGS1 regulator of G protein signaling 1 gene DOID:37 skin disease ISO RGD:735445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12436496 RGS1 regulator of G protein signaling 1 gene DOID:630 genetic disease ISO RGD:735445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12436496 RGS1 regulator of G protein signaling 1 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:735445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 12436496 RGS1 regulator of G protein signaling 1 gene DOID:9007964 Arsenic Poisoning ISO RGD:735445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 12436496 RGS1 regulator of G protein signaling 1 gene DOID:9008331 Tendon Injuries treatment ISO RGD:3561 D RGD:9068941 20200609 RGD PMID:23519232|REF_RGD_ID:10395300 12436496 RGS1 regulator of G protein signaling 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 12436510 SEC14L5 SEC14 like lipid binding 5 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1605420 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 12436510 SEC14L5 SEC14 like lipid binding 5 gene DOID:630 genetic disease ISO RGD:1605420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12436542 SNX7 sorting nexin 7 gene DOID:630 genetic disease ISO RGD:1313530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12436542 SNX7 sorting nexin 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 12436561 CRIPT CXXC repeat containing interactor of PDZ3 domain gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:736668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary dwarfism 1 PMID:24389050|PMID:25558065 12436561 CRIPT CXXC repeat containing interactor of PDZ3 domain gene DOID:3883 Lynch syndrome ISO RGD:736668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 12436561 CRIPT CXXC repeat containing interactor of PDZ3 domain gene DOID:630 genetic disease ISO RGD:736668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 12436561 CRIPT CXXC repeat containing interactor of PDZ3 domain gene DOID:9004904 SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES ISO RGD:736668 D RGD:7240710 20180130 OMIM 12436561 CRIPT CXXC repeat containing interactor of PDZ3 domain gene DOID:9004904 SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES ISO RGD:736668 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies PMID:24389050|PMID:25558065|PMID:25741868|PMID:27250922|PMID:31101064 12436573 ZNF827 zinc finger protein 827 gene DOID:0060041 autism spectrum disorder ISO RGD:1606144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 12436573 ZNF827 zinc finger protein 827 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1606144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 12436573 ZNF827 zinc finger protein 827 gene DOID:630 genetic disease ISO RGD:1606144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12436617 AKAP8L A-kinase anchoring protein 8 like gene DOID:630 genetic disease ISO RGD:1347470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12436640 C4H5orf58 chromosome 4 C5orf58 homolog gene DOID:0111951 immunodeficiency 40 ISO RGD:3403707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 12436640 C4H5orf58 chromosome 4 C5orf58 homolog gene DOID:630 genetic disease ISO RGD:3403707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12436651 DEFB118 defensin beta 118 gene DOID:630 genetic disease ISO RGD:1344518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12436662 METTL27 methyltransferase like 27 gene DOID:0060041 autism spectrum disorder ISO RGD:1352777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 12436662 METTL27 methyltransferase like 27 gene DOID:10923 sickle cell anemia ISO RGD:1352777 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 12436662 METTL27 methyltransferase like 27 gene DOID:12849 autistic disorder ISO RGD:1352777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 12436662 METTL27 methyltransferase like 27 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1352777 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 12436662 METTL27 methyltransferase like 27 gene DOID:1929 supravalvular aortic stenosis ISO RGD:1352777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740 12436662 METTL27 methyltransferase like 27 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 12436662 METTL27 methyltransferase like 27 gene DOID:5419 schizophrenia ISO RGD:1352777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 12436662 METTL27 methyltransferase like 27 gene DOID:630 genetic disease ISO RGD:1352777 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 12436662 METTL27 methyltransferase like 27 gene DOID:8445 intestinal volvulus ISO RGD:1352777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 12436662 METTL27 methyltransferase like 27 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 12436662 METTL27 methyltransferase like 27 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1352777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 127227979 CVCL_A5JV K9STS cell line DOID:1115 sarcoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C132276 127228161 CVCL_A5SU KDM/JuB2 cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C122783 127228162 CVCL_A5ST KDM/JuA1 cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C122783 127228163 CVCL_A5SW KDM/Re12 cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C122783 127228164 CVCL_A5SV KDM/JuB4 cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C122783 127228165 CVCL_A5SY KDM/Ud2 cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C122783 127228166 CVCL_A5SX KDM/Re21 cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C122783 127228167 CVCL_A5SZ KDM/Ud6 cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C122783 13217972 ACTL10 actin like 10 gene DOID:2843 long QT syndrome ISO RGD:1346529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 13217972 ACTL10 actin like 10 gene DOID:630 genetic disease ISO RGD:1346529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13218243 ZNF789 zinc finger protein 789 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 13218243 ZNF789 zinc finger protein 789 gene DOID:630 genetic disease ISO RGD:1603509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13218815 ZNF454 zinc finger protein 454 gene DOID:0050534 congenital stationary night blindness ISO RGD:1346228 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:22008250|PMID:24715752|PMID:26628857|PMID:28492532|PMID:30718709 13218815 ZNF454 zinc finger protein 454 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1346228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 13218815 ZNF454 zinc finger protein 454 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1346228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 13218815 ZNF454 zinc finger protein 454 gene DOID:0110865 congenital stationary night blindness 1B ISO RGD:1346228 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1B PMID:11874764|PMID:15781871|PMID:16249515|PMID:16622103|PMID:17405131|PMID:19666700|PMID:19862333|PMID:22008250|PMID:22735794|PMID:25307992|PMID:25741868|PMID:26628857|PMID:26667666|PMID:28492532|PMID:30718709 13218815 ZNF454 zinc finger protein 454 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1346228 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 13218815 ZNF454 zinc finger protein 454 gene DOID:14791 Leber congenital amaurosis ISO RGD:1346228 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:11874764|PMID:15781871|PMID:16622103|PMID:22008250|PMID:25741868|PMID:28492532|PMID:30718709 13218815 ZNF454 zinc finger protein 454 gene DOID:630 genetic disease ISO RGD:1346228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 13218815 ZNF454 zinc finger protein 454 gene DOID:8501 fundus dystrophy ISO RGD:1346228 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11874764|PMID:15781871|PMID:16622103|PMID:19862333|PMID:22008250|PMID:22735794|PMID:25741868|PMID:28492532|PMID:30718709 13219689 IFNE interferon epsilon gene DOID:5419 schizophrenia ISO RGD:1606106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 13219689 IFNE interferon epsilon gene DOID:630 genetic disease ISO RGD:1606106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13220879 H3C14 H3 clustered histone 14 gene DOID:1540 parathyroid carcinoma ISO RGD:1349967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 13220879 H3C14 H3 clustered histone 14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 13223048 LOC111092907 teratocarcinoma-derived growth factor 1-like gene DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ISO RGD:1347488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 13223048 LOC111092907 teratocarcinoma-derived growth factor 1-like gene DOID:12849 autistic disorder ISO RGD:1347488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 13223048 LOC111092907 teratocarcinoma-derived growth factor 1-like gene DOID:5419 schizophrenia ISO RGD:1347488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 13226061 HTD2 hydroxyacyl-thioester dehydratase type 2 gene DOID:630 genetic disease ISO RGD:12904515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13228026 TGFBR3L transforming growth factor beta receptor 3 like gene DOID:0080490 mucolipidosis type IV ISO RGD:6770737 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 13228026 TGFBR3L transforming growth factor beta receptor 3 like gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:6770737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 13228026 TGFBR3L transforming growth factor beta receptor 3 like gene DOID:630 genetic disease ISO RGD:6770737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13228067 PNMA6E PNMA family member 6E gene DOID:0050454 periventricular nodular heterotopia ISO RGD:12790877 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 13228067 PNMA6E PNMA family member 6E gene DOID:0050476 Barth syndrome ISO RGD:12790877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 13228067 PNMA6E PNMA family member 6E gene DOID:0050800 creatine transporter deficiency ISO RGD:12790877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 13228067 PNMA6E PNMA family member 6E gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:12790877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 13228067 PNMA6E PNMA family member 6E gene DOID:10588 adrenoleukodystrophy ISO RGD:12790877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 13228067 PNMA6E PNMA family member 6E gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:12790877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 13228067 PNMA6E PNMA family member 6E gene DOID:12849 autistic disorder ISO RGD:12790877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 13228067 PNMA6E PNMA family member 6E gene DOID:13628 favism ISO RGD:12790877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 13228067 PNMA6E PNMA family member 6E gene DOID:2729 dyskeratosis congenita ISO RGD:12790877 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 13228067 PNMA6E PNMA family member 6E gene DOID:607 paraplegia ISO RGD:12790877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 13230863 GPR15 G protein-coupled receptor 15 gene DOID:630 genetic disease ISO RGD:1315368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13231520 ZNF135 zinc finger protein 135 gene DOID:630 genetic disease ISO RGD:1349048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13233260 GOLGA7B golgin A7 family member B gene DOID:630 genetic disease ISO RGD:1312882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13233971 TUBGCP6 tubulin gamma complex associated protein 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1317114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 13233971 TUBGCP6 tubulin gamma complex associated protein 6 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1317114 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 13233971 TUBGCP6 tubulin gamma complex associated protein 6 gene DOID:0080105 microcephaly and chorioretinopathy 1 ISO RGD:1317114 D RGD:7240710 20210114 OMIM 13233971 TUBGCP6 tubulin gamma complex associated protein 6 gene DOID:0080105 microcephaly and chorioretinopathy 1 ISO RGD:1317114 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 1 PMID:17576681|PMID:22279524|PMID:25344692|PMID:25741868|PMID:28492532|PMID:31077665|PMID:5936364|PMID:9536098 13233971 TUBGCP6 tubulin gamma complex associated protein 6 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1317114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 13233971 TUBGCP6 tubulin gamma complex associated protein 6 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1317114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 13233971 TUBGCP6 tubulin gamma complex associated protein 6 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1317114 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 13233971 TUBGCP6 tubulin gamma complex associated protein 6 gene DOID:1059 intellectual disability ISO RGD:1317114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 13233971 TUBGCP6 tubulin gamma complex associated protein 6 gene DOID:10907 microcephaly ISO RGD:1317114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 13233971 TUBGCP6 tubulin gamma complex associated protein 6 gene DOID:630 genetic disease ISO RGD:1317114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27660388|PMID:28492532 13233971 TUBGCP6 tubulin gamma complex associated protein 6 gene DOID:9005482 Microcephaly and Chorioretinopathy ISO RGD:1317114 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly and chorioretinopathy with or without intellectual disability PMID:25344692|PMID:25741868|PMID:28492532 13235540 ZFP69B ZFP69 zinc finger protein B gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1343701 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 13235540 ZFP69B ZFP69 zinc finger protein B gene DOID:630 genetic disease ISO RGD:1343701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13238239 PRSS48 serine protease 48 gene DOID:4990 essential tremor ISO RGD:1605534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 13238239 PRSS48 serine protease 48 gene DOID:630 genetic disease ISO RGD:1605534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13239136 ARC activity regulated cytoskeleton associated protein gene DOID:10652 Alzheimer's disease ISO RGD:730952 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:18503570 13239136 ARC activity regulated cytoskeleton associated protein gene DOID:11832 visual epilepsy ISO RGD:62037 D RGD:9068941 20210115 RGD PMID:23744421|REF_RGD_ID:10395306 13239136 ARC activity regulated cytoskeleton associated protein gene DOID:3525 middle cerebral artery infarction ISO RGD:62037 D RGD:9068941 20210115 RGD PMID:22645329|REF_RGD_ID:10395314 13239136 ARC activity regulated cytoskeleton associated protein gene DOID:480 movement disease ISO RGD:730952 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:20298714 13239136 ARC activity regulated cytoskeleton associated protein gene DOID:630 genetic disease ISO RGD:730952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13239136 ARC activity regulated cytoskeleton associated protein gene DOID:9001733 Tinnitus ISO RGD:62037 D RGD:9068941 20210115 RGD mRNA:decreased expression:auditory cortex: PMID:18524887|REF_RGD_ID:8655535 13239136 ARC activity regulated cytoskeleton associated protein gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:62037 D RGD:9068941 20210115 RGD PMID:17275194|REF_RGD_ID:8655559 13239136 ARC activity regulated cytoskeleton associated protein gene DOID:9004538 Hearing Loss ISO RGD:62037 D RGD:9068941 20210115 RGD mRNA:decreased expression:auditory cortex: PMID:18524887|REF_RGD_ID:8655535 13239136 ARC activity regulated cytoskeleton associated protein gene DOID:9004538 Hearing Loss treatment ISO RGD:730952 D RGD:9068941 20210115 RGD PMID:18607918|REF_RGD_ID:8655538 13239136 ARC activity regulated cytoskeleton associated protein gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730952 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:18311559 13241806 LOC607343 immunoglobulin heavy variable 3-74-like gene DOID:0080600 COVID-19 ISO RGD:1349969 D RGD:9068941 20210730 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 13243952 BTG4 BTG anti-proliferation factor 4 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1318793 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 13243952 BTG4 BTG anti-proliferation factor 4 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1318793 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 13243952 BTG4 BTG anti-proliferation factor 4 gene DOID:1059 intellectual disability ISO RGD:1318793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 13243952 BTG4 BTG anti-proliferation factor 4 gene DOID:12704 ataxia telangiectasia ISO RGD:1318793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 13243952 BTG4 BTG anti-proliferation factor 4 gene DOID:630 genetic disease ISO RGD:1318793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13243952 BTG4 BTG anti-proliferation factor 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1318793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 13243952 BTG4 BTG anti-proliferation factor 4 gene DOID:9007155 Oocyte Maturation Defect 8 ISO RGD:1318793 D RGD:7240710 20200930 OMIM 13243952 BTG4 BTG anti-proliferation factor 4 gene DOID:9007155 Oocyte Maturation Defect 8 ISO RGD:1318793 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 8 PMID:25741868|PMID:32502391|PMID:34647228 13243952 BTG4 BTG anti-proliferation factor 4 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1318793 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 13246203 C3H4orf50 chromosome 3 C4orf50 homolog gene DOID:6678 tooth and nail syndrome ISO RGD:1602802 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 13246215 CD68 CD68 molecule gene DOID:0050523 adult T-cell leukemia/lymphoma disease_progression ISO RGD:1314316 D RGD:9068941 20210226 RGD protein:increased expression:lymph node tumor (human) PMID:23557330|REF_RGD_ID:42721976 13246215 CD68 CD68 molecule gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 13246215 CD68 CD68 molecule gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1314316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 13246215 CD68 CD68 molecule gene DOID:0080600 COVID-19 ISO RGD:1314316 D RGD:9068941 20200709 RGD mRNA:decreased expression:dendritic cells (human) PMID:32377375|REF_RGD_ID:32716422 13246215 CD68 CD68 molecule gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1314316 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 13246215 CD68 CD68 molecule gene DOID:10533 viral pneumonia ISO RGD:1314317 D RGD:9068941 20210129 RGD mRNA:increased expression:lung,trachea (mouse) PMID:12581500|REF_RGD_ID:40925942 13246215 CD68 CD68 molecule gene DOID:11429 endometriosis of pelvic peritoneum ISO RGD:1314316 D RGD:9068941 20210122 RGD protein:increased expression:peritoneum (human) PMID:19136478|REF_RGD_ID:40925932 13246215 CD68 CD68 molecule gene DOID:12177 common variable immunodeficiency ISO RGD:1314316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 13246215 CD68 CD68 molecule gene DOID:13254 diverticulitis of colon severity ISO RGD:1314316 D RGD:9068941 20210129 RGD associated with steroid use;protein:increased expression:sigmoid colon (human) PMID:21553154|REF_RGD_ID:40925945 13246215 CD68 CD68 molecule gene DOID:13619 extrahepatic cholestasis ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 13246215 CD68 CD68 molecule gene DOID:2018 hyperinsulinism ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 13246215 CD68 CD68 molecule gene DOID:2043 hepatitis B ISO RGD:1314316 D RGD:9068941 20210122 RGD associated with inflammation;protein:increased expression:liver (human) PMID:9699943|REF_RGD_ID:40925917 13246215 CD68 CD68 molecule gene DOID:2729 dyskeratosis congenita ISO RGD:1314316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 13246215 CD68 CD68 molecule gene DOID:2945 severe acute respiratory syndrome ISO RGD:1314316 D RGD:9068941 20200609 RGD protein:increased expression:macrophage, testis (human) PMID:16237152|REF_RGD_ID:27372876 13246215 CD68 CD68 molecule gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1314316 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 13246215 CD68 CD68 molecule gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1314316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 13246215 CD68 CD68 molecule gene DOID:326 ischemia ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19458120 13246215 CD68 CD68 molecule gene DOID:3965 Merkel cell carcinoma ISO RGD:1314316 D RGD:9068941 20210122 RGD protein:increased expression:tumor (human) PMID:22050913|REF_RGD_ID:40925916 13246215 CD68 CD68 molecule gene DOID:526 human immunodeficiency virus infectious disease disease_progression ISO RGD:1314316 D RGD:9068941 20210129 RGD associated with opioid use;protein:increased expression:brain (human) PMID:22797933|REF_RGD_ID:41404655 13246215 CD68 CD68 molecule gene DOID:630 genetic disease ISO RGD:1314316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13246215 CD68 CD68 molecule gene DOID:684 hepatocellular carcinoma severity ISO RGD:1314316 D RGD:9068941 20210122 RGD protein:increased expression:liver (human) PMID:28656201|REF_RGD_ID:40924686 13246215 CD68 CD68 molecule gene DOID:783 end stage renal disease ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19539174 13246215 CD68 CD68 molecule gene DOID:8567 Hodgkin's lymphoma severity ISO RGD:1314316 D RGD:9068941 20210129 RGD associated with Epstein-Barr Virus Infections;protein:increased expression:tumor(human) PMID:21071500|REF_RGD_ID:40925944 13246215 CD68 CD68 molecule gene DOID:8567 Hodgkin's lymphoma severity ISO RGD:1314316 D RGD:9068941 20210129 RGD protein:increased expression:tumor (human) PMID:23045593|REF_RGD_ID:40925946 13246215 CD68 CD68 molecule gene DOID:9000099 Experimental Colitis treatment ISO RGD:1314317 D RGD:9068941 20210122 RGD PMID:25004394|REF_RGD_ID:40925931 13246215 CD68 CD68 molecule gene DOID:9000509 Epstein-Barr Virus Infections ISO RGD:1314316 D RGD:9068941 20210122 RGD associated with Hodgkin's Lymphoma;protein:increased expression:tumor (human) PMID:21602260|REF_RGD_ID:40925915 13246215 CD68 CD68 molecule gene DOID:9000509 Epstein-Barr Virus Infections severity ISO RGD:1314316 D RGD:9068941 20210129 RGD associated with Hodgkin's Lymphoma;protein:increased expression:tumor(human) PMID:21071500|REF_RGD_ID:40925944 13246215 CD68 CD68 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 13246215 CD68 CD68 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 13246215 CD68 CD68 molecule gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388520 13246215 CD68 CD68 molecule gene DOID:9007692 Insulin Resistance ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 13246215 CD68 CD68 molecule gene DOID:9008 psoriatic arthritis ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19732956 13246215 CD68 CD68 molecule gene DOID:9009105 HIV Encephalitis ISO RGD:1314316 D RGD:9068941 20210129 RGD protein:increased expression:brain (human) PMID:15488024|REF_RGD_ID:40925943 13246215 CD68 CD68 molecule gene DOID:9970 obesity ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 13246551 MAP6D1 MAP6 domain containing 1 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1602463 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 13246551 MAP6D1 MAP6 domain containing 1 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1602463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 13246551 MAP6D1 MAP6 domain containing 1 gene DOID:0111546 Currarino syndrome ISO RGD:1602463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 13246551 MAP6D1 MAP6 domain containing 1 gene DOID:630 genetic disease ISO RGD:1602463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13246940 LOC111098084 uncharacterized LOC111098084 gene DOID:0080942 anauxetic dysplasia ISO RGD:16550913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 13250860 NPW neuropeptide W gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1605830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 13250860 NPW neuropeptide W gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 13250860 NPW neuropeptide W gene DOID:1826 epilepsy ISO RGD:1605830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 13250860 NPW neuropeptide W gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 13250860 NPW neuropeptide W gene DOID:630 genetic disease ISO RGD:1605830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13252408 TLR6 toll like receptor 6 gene DOID:0060000 infective endocarditis susceptibility ISO RGD:1344850 D RGD:9068941 20210604 RGD DNA:SNP:cds:rs3775073(1263A>G)(p.Lys421Lys)(human) PMID:25213166|REF_RGD_ID:127229900 13252408 TLR6 toll like receptor 6 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1344850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 13252408 TLR6 toll like receptor 6 gene DOID:1024 leprosy ISO RGD:1344850 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 13252408 TLR6 toll like receptor 6 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1552386 D RGD:9068941 20200609 RGD PMID:19019963|REF_RGD_ID:4889534 13252408 TLR6 toll like receptor 6 gene DOID:13564 aspergillosis susceptibility ISO RGD:1344850 D RGD:9068941 20200609 RGD DNA:SNP: :p.S249P (human) PMID:16461792|REF_RGD_ID:4889535 13252408 TLR6 toll like receptor 6 gene DOID:2841 asthma susceptibility ISO RGD:1344850 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:18547625|REF_RGD_ID:4889528 13252408 TLR6 toll like receptor 6 gene DOID:2841 asthma susceptibility ISO RGD:1344850 D RGD:9068941 20200609 RGD DNA:SNP: :p.S249P (human) PMID:15266299|REF_RGD_ID:4889538 13252408 TLR6 toll like receptor 6 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1552386 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (mouse) PMID:18256364|REF_RGD_ID:7246909 13252408 TLR6 toll like receptor 6 gene DOID:399 tuberculosis susceptibility ISO RGD:1344850 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:18091991|REF_RGD_ID:7246918 13252408 TLR6 toll like receptor 6 gene DOID:4483 rhinitis ISO RGD:1344850 D RGD:9068941 20200609 RGD associated with Asthma;DNA:SNP: :rs2381289 (human) PMID:20815312|REF_RGD_ID:4145352 13252408 TLR6 toll like receptor 6 gene DOID:630 genetic disease ISO RGD:1344850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13252408 TLR6 toll like receptor 6 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1552386 D RGD:9068941 20200609 RGD PMID:20070409|REF_RGD_ID:4889532 13252408 TLR6 toll like receptor 6 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1303030 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum PMID:19608731|REF_RGD_ID:5128779 13252408 TLR6 toll like receptor 6 gene DOID:874 bacterial pneumonia ISO RGD:1303030 D RGD:9068941 20200609 RGD PMID:19844782|REF_RGD_ID:4889533 13252408 TLR6 toll like receptor 6 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1344850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 13252408 TLR6 toll like receptor 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16537705 13252408 TLR6 toll like receptor 6 gene DOID:9004484 Sepsis ISO RGD:1344850 D RGD:9068941 20230216 RGD mRNA:increased expression:plasma PMID:31002148|REF_RGD_ID:155900762 13252408 TLR6 toll like receptor 6 gene DOID:9005372 Inflammation ISO RGD:1303030 D RGD:9068941 20200609 RGD PMID:16154916|REF_RGD_ID:4889539 13252408 TLR6 toll like receptor 6 gene DOID:9005372 Inflammation ISO RGD:1552386 D RGD:9068941 20200609 RGD associated with Respiratory Hypersensitivity PMID:20016195|REF_RGD_ID:4889537 13253770 MNDA myeloid cell nuclear differentiation antigen gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1314505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 13253770 MNDA myeloid cell nuclear differentiation antigen gene DOID:1540 parathyroid carcinoma ISO RGD:1314505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 13253770 MNDA myeloid cell nuclear differentiation antigen gene DOID:630 genetic disease ISO RGD:1314505 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 13253770 MNDA myeloid cell nuclear differentiation antigen gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 13256538 CCDC96 coiled-coil domain containing 96 gene DOID:4501 orofaciodigital syndrome ISO RGD:1603873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome 13256538 CCDC96 coiled-coil domain containing 96 gene DOID:630 genetic disease ISO RGD:1603873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13256580 STUM stum, mechanosensory transduction mediator homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1605215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 13256580 STUM stum, mechanosensory transduction mediator homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 13257514 VEZT vezatin, adherens junctions transmembrane protein gene DOID:630 genetic disease ISO RGD:1602106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13261429 POLR1D RNA polymerase I and III subunit D gene DOID:0080790 Treacher Collins syndrome 2 ISO RGD:1343756 D RGD:7240710 20200708 OMIM 13261429 POLR1D RNA polymerase I and III subunit D gene DOID:0080790 Treacher Collins syndrome 2 ISO RGD:1343756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Treacher Collins syndrome 2 PMID:21131976|PMID:24603435|PMID:25741868|PMID:28492532|PMID:34397304 13261429 POLR1D RNA polymerase I and III subunit D gene DOID:303 substance-related disorder ISO RGD:1343756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 13261429 POLR1D RNA polymerase I and III subunit D gene DOID:3910 lung adenocarcinoma ISO RGD:1343756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 13261429 POLR1D RNA polymerase I and III subunit D gene DOID:630 genetic disease ISO RGD:1343756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13261429 POLR1D RNA polymerase I and III subunit D gene DOID:9004538 Hearing Loss ISO RGD:1343756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 13261429 POLR1D RNA polymerase I and III subunit D gene DOID:9006205 Animal Disease Models ISO RGD:1343756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 13261429 POLR1D RNA polymerase I and III subunit D gene DOID:9008003 Mandibulofacial Dysostosis ISO RGD:1343756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21131976 13261440 SPMIP11 sperm microtubule inner protein 11 gene DOID:630 genetic disease ISO RGD:7245055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13261440 SPMIP11 sperm microtubule inner protein 11 gene DOID:9002593 Lethal Congenital Contracture Syndrome 8 ISO RGD:7245055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8 PMID:24319099 13263913 HHATL hedgehog acyltransferase like gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1344894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 13263913 HHATL hedgehog acyltransferase like gene DOID:630 genetic disease ISO RGD:1344894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13264916 VMP1 vacuole membrane protein 1 gene DOID:0050777 Joubert syndrome ISO RGD:731420 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 13264916 VMP1 vacuole membrane protein 1 gene DOID:630 genetic disease ISO RGD:731420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13264916 VMP1 vacuole membrane protein 1 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:731420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 13266625 LOC111094052 endogenous retrovirus group V member 2 Env polyprotein-like gene DOID:630 genetic disease ISO RGD:2292055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13266948 TRNP1 TMF1 regulated nuclear protein 1 gene DOID:630 genetic disease ISO RGD:1601688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13266984 LOC111096475 uncharacterized LOC111096475 gene DOID:5419 schizophrenia ISO RGD:4140188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 13272158 GPAT4 glycerol-3-phosphate acyltransferase 4 gene DOID:630 genetic disease ISO RGD:1606717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13272730 PRLH prolactin releasing hormone gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1352450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 13272730 PRLH prolactin releasing hormone gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1352450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 13272730 PRLH prolactin releasing hormone gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1352450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 13272730 PRLH prolactin releasing hormone gene DOID:1059 intellectual disability ISO RGD:1352450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 13272730 PRLH prolactin releasing hormone gene DOID:630 genetic disease ISO RGD:1352450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13272730 PRLH prolactin releasing hormone gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1352450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 13272730 PRLH prolactin releasing hormone gene DOID:9970 obesity ISO RGD:1617091 D RGD:9068941 20220825 MouseDO OMIM:601665 13272730 PRLH prolactin releasing hormone gene DOID:9970 obesity ISO RGD:628634 D RGD:9068941 20200609 RGD PMID:15854142|REF_RGD_ID:1641829 13277537 LOC111094198 protocadherin alpha-5-like gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1347310 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 13277537 LOC111094198 protocadherin alpha-5-like gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347310 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 13277537 LOC111094198 protocadherin alpha-5-like gene DOID:10283 prostate cancer ISO RGD:1347310 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 13277537 LOC111094198 protocadherin alpha-5-like gene DOID:10487 Hirschsprung's disease ISO RGD:1347310 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 13277537 LOC111094198 protocadherin alpha-5-like gene DOID:2228 thrombocytosis ISO RGD:1347310 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Thrombocytosis PMID:25741868 13277537 LOC111094198 protocadherin alpha-5-like gene DOID:630 genetic disease ISO RGD:1347310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13277537 LOC111094198 protocadherin alpha-5-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347310 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 13277537 LOC111094198 protocadherin alpha-5-like gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347310 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 13278995 KLHDC7B kelch domain containing 7B gene DOID:0060041 autism spectrum disorder ISO RGD:1602443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 13278995 KLHDC7B kelch domain containing 7B gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1602443 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 13278995 KLHDC7B kelch domain containing 7B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1602443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 13278995 KLHDC7B kelch domain containing 7B gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1602443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 13278995 KLHDC7B kelch domain containing 7B gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1602443 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 13278995 KLHDC7B kelch domain containing 7B gene DOID:10581 metachromatic leukodystrophy ISO RGD:1602443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 13278995 KLHDC7B kelch domain containing 7B gene DOID:1059 intellectual disability ISO RGD:1602443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 13278995 KLHDC7B kelch domain containing 7B gene DOID:630 genetic disease ISO RGD:1602443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13279322 CSRP2 cysteine and glycine rich protein 2 gene DOID:630 genetic disease ISO RGD:1352848 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13280742 LOC111089966 zinc finger protein 271 gene DOID:630 genetic disease ISO RGD:3207968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13281493 HOXA6 homeobox A6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 13281493 HOXA6 homeobox A6 gene DOID:630 genetic disease ISO RGD:1352106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13282596 H3C2 H3 clustered histone 2 gene DOID:9538 multiple myeloma ISO RGD:1345402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 13289055 HOXD13 homeobox D13 gene DOID:0050581 brachydactyly ISO RGD:1318172 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:p.S308C (923C>G), p.I314L (940A>C) (human) PMID:12649808|REF_RGD_ID:12743593 13289055 HOXD13 homeobox D13 gene DOID:0050689 brachydactyly-syndactyly syndrome ISO RGD:1318172 D RGD:7240710 20180130 OMIM 13289055 HOXD13 homeobox D13 gene DOID:0050689 brachydactyly-syndactyly syndrome ISO RGD:1318172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly-syndactyly syndrome | ClinVar Annotator: match by term: Brachydactyly-syndactyly-oligodactyly syndrome PMID:17236141|PMID:22233338|PMID:23995701|PMID:25741868 13289055 HOXD13 homeobox D13 gene DOID:0060242 synpolydactyly ISO RGD:1318172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Synpolydactyly PMID:22233338|PMID:25741868 13289055 HOXD13 homeobox D13 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1318172 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 13289055 HOXD13 homeobox D13 gene DOID:0110967 brachydactyly type A4 ISO RGD:1318172 D RGD:9068941 20200609 RGD DNA:deletion:exon:p.A53_A59del (c.157_177del) (human) PMID:17236141|REF_RGD_ID:12738470 13289055 HOXD13 homeobox D13 gene DOID:0110971 brachydactyly type D ISO RGD:1318172 D RGD:7240710 20180130 OMIM 13289055 HOXD13 homeobox D13 gene DOID:0110971 brachydactyly type D ISO RGD:1318172 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brachydactyly type D PMID:12620993|PMID:12649808|PMID:16314414|PMID:25741868|PMID:28492532 13289055 HOXD13 homeobox D13 gene DOID:0110972 brachydactyly type E1 ISO RGD:1318172 D RGD:7240710 20180130 OMIM 13289055 HOXD13 homeobox D13 gene DOID:0110972 brachydactyly type E1 ISO RGD:1318172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly type E1 PMID:12620993|PMID:12649808|PMID:16314414|PMID:22233338|PMID:25741868|PMID:28492532 13289055 HOXD13 homeobox D13 gene DOID:0111819 syndactyly type 5 ISO RGD:1318172 D RGD:7240710 20180130 OMIM 13289055 HOXD13 homeobox D13 gene DOID:0111819 syndactyly type 5 ISO RGD:1318172 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Syndactyly type 5 PMID:15333588|PMID:16222680|PMID:17236141|PMID:215242|PMID:25741868|PMID:28492532|PMID:9207113 13289055 HOXD13 homeobox D13 gene DOID:10892 hypospadias ISO RGD:1308417 D RGD:9068941 20200609 RGD mRNA:decreased expression:male genital tubercle PMID:27079746|REF_RGD_ID:12743602 13289055 HOXD13 homeobox D13 gene DOID:11193 syndactyly ISO RGD:1318172 D RGD:9068941 20220721 CTD CTD Direct Evidence: marker/mechanism 13289055 HOXD13 homeobox D13 gene DOID:11383 cryptorchidism ISO RGD:1318172 D RGD:9068941 20200609 RGD DNA:splice-site mutation:exon:180A>G (human) PMID:17216618|REF_RGD_ID:12743597 13289055 HOXD13 homeobox D13 gene DOID:1148 polydactyly ISO RGD:1318172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:22233338|PMID:25741868 13289055 HOXD13 homeobox D13 gene DOID:11836 clubfoot ISO RGD:1318172 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs13392701 (human) PMID:16331564|REF_RGD_ID:12743594 13289055 HOXD13 homeobox D13 gene DOID:1227 neutropenia ISO RGD:1318172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 13289055 HOXD13 homeobox D13 gene DOID:14679 VACTERL association ISO RGD:1318172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: VACTERL association PMID:19006232 13289055 HOXD13 homeobox D13 gene DOID:2355 anemia ISO RGD:1318172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 13289055 HOXD13 homeobox D13 gene DOID:614 lymphopenia ISO RGD:1318172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 13289055 HOXD13 homeobox D13 gene DOID:630 genetic disease ISO RGD:1318172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22233338|PMID:25741868 13289055 HOXD13 homeobox D13 gene DOID:7148 rheumatoid arthritis ISO RGD:1318172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 13289055 HOXD13 homeobox D13 gene DOID:9001471 Anorectal Malformations ISO RGD:1308417 D RGD:9068941 20200609 RGD mRNA:decreased expression:hindgut PMID:17161201|REF_RGD_ID:1599527 13289055 HOXD13 homeobox D13 gene DOID:9001471 Anorectal Malformations ISO RGD:1308417 D RGD:9068941 20200609 RGD mRNA:decreased expression:rectum PMID:27079746|REF_RGD_ID:12743602 13289055 HOXD13 homeobox D13 gene DOID:9005586 Synpolydactyly 1 ISO RGD:1318172 D RGD:7240710 20180822 OMIM 13289055 HOXD13 homeobox D13 gene DOID:9005586 Synpolydactyly 1 ISO RGD:1318172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Synpolydactyly type 1 PMID:12414828|PMID:12900906|PMID:14698619|PMID:15333588|PMID:15917204|PMID:16222680|PMID:18399101|PMID:19060004|PMID:215242|PMID:21814222|PMID:22233338|PMID:22373878|PMID:22374128|PMID:23948678|PMID:24055421|PMID:24789103|PMID:25741868|PMID:28492532|PMID:30408610|PMID:7666393|PMID:8620844|PMID:8817328|PMID:9207113|PMID:9758628 13289055 HOXD13 homeobox D13 gene DOID:9005586 Synpolydactyly 1 severity ISO RGD:1318172 D RGD:9068941 20200609 RGD DNA:insertion:exon PMID:9207113|REF_RGD_ID:12743592 13289055 HOXD13 homeobox D13 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1318172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8620844 13289055 HOXD13 homeobox D13 gene DOID:9006432 Brachydactyly, Type E ISO RGD:1318172 D RGD:9068941 20200609 RGD DNA:nonsense mutation:exon:p.R274X (c.820C>T) (human) PMID:22233338|REF_RGD_ID:12743596 13289389 ZNF19 zinc finger protein 19 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1349877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 13289389 ZNF19 zinc finger protein 19 gene DOID:630 genetic disease ISO RGD:1349877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13296035 FAM222A family with sequence similarity 222 member A gene DOID:630 genetic disease ISO RGD:1605921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13296322 H1-3 H1.3 linker histone, cluster member gene DOID:630 genetic disease ISO RGD:1343145 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13301085 NPS neuropeptide S gene DOID:0060390 distal 10q deletion syndrome ISO RGD:2291750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 13301085 NPS neuropeptide S gene DOID:2030 anxiety disorder ISO RGD:2291750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19339610|PMID:21466221 13301085 NPS neuropeptide S gene DOID:2560 morphine dependence ISO RGD:2324597 D RGD:9068941 20200609 RGD PMID:23684726|REF_RGD_ID:9831198 13301085 NPS neuropeptide S gene DOID:630 genetic disease ISO RGD:2291750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13301085 NPS neuropeptide S gene DOID:9000499 Alcoholic Intoxication ISO RGD:2324597 D RGD:9068941 20200609 RGD PMID:19860802|REF_RGD_ID:9831199 13301085 NPS neuropeptide S gene DOID:9002362 Hyperkinesis ISO RGD:2291750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19339610 13301085 NPS neuropeptide S gene DOID:9005632 Cocaine-Related Disorders ISO RGD:2291750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19339610|PMID:20974945|PMID:21466221 13302673 NRG4 neuregulin 4 gene DOID:2717 Bloom syndrome ISO RGD:1606150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 13302673 NRG4 neuregulin 4 gene DOID:5419 schizophrenia ISO RGD:1606150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 13302673 NRG4 neuregulin 4 gene DOID:630 genetic disease ISO RGD:1606150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13302673 NRG4 neuregulin 4 gene DOID:9256 colorectal cancer ISO RGD:1606150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 13302691 LOC111094819 heat shock transcription factor, X-linked-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 13302691 LOC111094819 heat shock transcription factor, X-linked-like gene DOID:12849 autistic disorder ISO RGD:1605081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 13305945 LBHD2 LBH domain containing 2 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:13440437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 13307307 TWF2 twinfilin actin binding protein 2 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1312984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 13307307 TWF2 twinfilin actin binding protein 2 gene DOID:0080600 COVID-19 ISO RGD:1312984 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 13307307 TWF2 twinfilin actin binding protein 2 gene DOID:630 genetic disease ISO RGD:1312984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13313586 HIGD1C HIG1 hypoxia inducible domain family member 1C gene DOID:630 genetic disease ISO RGD:1602019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13315351 VSNL1 visinin like 1 gene DOID:10652 Alzheimer's disease ISO RGD:737420 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:25806004 13320975 GET1 guided entry of tail-anchored proteins factor 1 gene DOID:12849 autistic disorder ISO RGD:1352136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 13320975 GET1 guided entry of tail-anchored proteins factor 1 gene DOID:630 genetic disease ISO RGD:1352136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13320975 GET1 guided entry of tail-anchored proteins factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352136 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 13322161 REELD1 reeler domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:13208696 D RGD:9068941 20210115 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 13322720 C1H19orf12 chromosome 1 C19orf12 homolog gene DOID:0050952 spastic ataxia ISO RGD:1319491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 13322720 C1H19orf12 chromosome 1 C19orf12 homolog gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1319491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:21981780|PMID:22584950|PMID:23269600|PMID:23436634|PMID:23857908|PMID:25741868|PMID:28492532|PMID:28641177|PMID:30392167|PMID:31087512|PMID:31518459|PMID:31804703|PMID:33607528|PMID:34284285 13322720 C1H19orf12 chromosome 1 C19orf12 homolog gene DOID:0110738 neurodegeneration with brain iron accumulation 4 ISO RGD:1319491 D RGD:7240710 20210114 OMIM 13322720 C1H19orf12 chromosome 1 C19orf12 homolog gene DOID:0110738 neurodegeneration with brain iron accumulation 4 ISO RGD:1319491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4 PMID:17576681|PMID:18414213|PMID:20039086|PMID:21981780|PMID:22508347|PMID:22584950|PMID:23166001|PMID:23269600|PMID:23278385|PMID:23436634|PMID:23494994|PMID:23857908|PMID:24033266|PMID:24209434|PMID:25592411|PMID:25741868|PMID:26187298|PMID:26539891|PMID:27112773|PMID:28347615|PMID:28492532|PMID:28641177|PMID:29295770|PMID:29389947|PMID:29915382|PMID:30088953|PMID:30369941|PMID:30392167|PMID:31087512|PMID:31518459|PMID:31804703|PMID:32581362|PMID:33607528|PMID:34284285|PMID:9536098 13322720 C1H19orf12 chromosome 1 C19orf12 homolog gene DOID:0110795 hereditary spastic paraplegia 43 ISO RGD:1319491 D RGD:7240710 20210114 OMIM 13322720 C1H19orf12 chromosome 1 C19orf12 homolog gene DOID:0110795 hereditary spastic paraplegia 43 ISO RGD:1319491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 43 | ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive PMID:17576681|PMID:18414213|PMID:20039086|PMID:21981780|PMID:22584950|PMID:23166001|PMID:23269600|PMID:23436634|PMID:23494994|PMID:23857908|PMID:24033266|PMID:24361204|PMID:25558065|PMID:25592411|PMID:25741868|PMID:26187298|PMID:27112773|PMID:28492532|PMID:28641177|PMID:28832565|PMID:29915382|PMID:30088953|PMID:30369941|PMID:30392167|PMID:31087512|PMID:31105013|PMID:31804703|PMID:33607528|PMID:34284285|PMID:9536098 13322720 C1H19orf12 chromosome 1 C19orf12 homolog gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:1319491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A PMID:21981780|PMID:25741868|PMID:28492532 13322720 C1H19orf12 chromosome 1 C19orf12 homolog gene DOID:1289 neurodegenerative disease ISO RGD:1319491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:21981780|PMID:24361204|PMID:25558065|PMID:28492532|PMID:28832565|PMID:31087512 13322720 C1H19orf12 chromosome 1 C19orf12 homolog gene DOID:2476 hereditary spastic paraplegia ISO RGD:1319491 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:21981780|PMID:23269600|PMID:24361204|PMID:25558065|PMID:25741868|PMID:27112773|PMID:28492532|PMID:28832565|PMID:31087512|PMID:31105013 13322720 C1H19orf12 chromosome 1 C19orf12 homolog gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1319491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:21981780|PMID:23269600|PMID:23494994|PMID:23857908|PMID:24033266|PMID:25592411|PMID:25741868|PMID:28492532|PMID:30088953 13322720 C1H19orf12 chromosome 1 C19orf12 homolog gene DOID:543 dystonia ISO RGD:1319491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:21981780|PMID:23269600|PMID:23494994|PMID:23857908|PMID:24033266|PMID:25592411|PMID:25741868|PMID:28492532|PMID:30088953 13322720 C1H19orf12 chromosome 1 C19orf12 homolog gene DOID:630 genetic disease ISO RGD:1319491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13322720 C1H19orf12 chromosome 1 C19orf12 homolog gene DOID:9002762 Ovarian Neoplasms ISO RGD:1319491 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 13322720 C1H19orf12 chromosome 1 C19orf12 homolog gene DOID:9008086 Developmental Disabilities ISO RGD:1319491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:26539891 13329466 LOC111090436 antimicrobial peptide NK-lysin-like gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1342846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 13329466 LOC111090436 antimicrobial peptide NK-lysin-like gene DOID:630 genetic disease ISO RGD:1342846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13330050 ZSCAN16 zinc finger and SCAN domain containing 16 gene DOID:11372 megacolon ISO RGD:1345084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 13330050 ZSCAN16 zinc finger and SCAN domain containing 16 gene DOID:630 genetic disease ISO RGD:1345084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13332847 B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 gene DOID:12361 Graves' disease ISO RGD:1320774 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 13332847 B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 gene DOID:5419 schizophrenia ISO RGD:1320774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 13332847 B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 gene DOID:630 genetic disease ISO RGD:1320774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13332847 B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1320774 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 13333266 TMEM102 transmembrane protein 102 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1604962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 13333266 TMEM102 transmembrane protein 102 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1604962 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 13333266 TMEM102 transmembrane protein 102 gene DOID:1059 intellectual disability ISO RGD:1604962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 13333266 TMEM102 transmembrane protein 102 gene DOID:12177 common variable immunodeficiency ISO RGD:1604962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 13333266 TMEM102 transmembrane protein 102 gene DOID:2729 dyskeratosis congenita ISO RGD:1604962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 13333266 TMEM102 transmembrane protein 102 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1604962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 13333266 TMEM102 transmembrane protein 102 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1604962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 13333266 TMEM102 transmembrane protein 102 gene DOID:630 genetic disease ISO RGD:1604962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13335427 H2AC4 H2A clustered histone 4 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1353821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 13339487 LOC111091116 protein CEBPZOS gene DOID:630 genetic disease ISO RGD:7380495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13343232 KIAA0408 KIAA0408 gene DOID:630 genetic disease ISO RGD:1345855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13344412 FAM110A family with sequence similarity 110 member A gene DOID:630 genetic disease ISO RGD:1318939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13344706 LOC111089960 protocadherin alpha-7 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1346435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 13344706 LOC111089960 protocadherin alpha-7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346435 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 13344706 LOC111089960 protocadherin alpha-7 gene DOID:10487 Hirschsprung's disease ISO RGD:1346435 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 13344706 LOC111089960 protocadherin alpha-7 gene DOID:630 genetic disease ISO RGD:1346435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13344706 LOC111089960 protocadherin alpha-7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 13344706 LOC111089960 protocadherin alpha-7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346435 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 13347709 LOC111093559 keratin-associated protein 22-1-like gene DOID:630 genetic disease ISO RGD:1352120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13351420 MIXL1 Mix paired-like homeobox gene DOID:1540 parathyroid carcinoma ISO RGD:1320666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 13351420 MIXL1 Mix paired-like homeobox gene DOID:630 genetic disease ISO RGD:1320666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13351420 MIXL1 Mix paired-like homeobox gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 13351611 LOC111093549 keratin-associated protein 19-7-like gene DOID:630 genetic disease ISO RGD:2291778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13359159 TMA7 translation machinery associated 7 homolog gene DOID:630 genetic disease ISO RGD:1605384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13359159 TMA7 translation machinery associated 7 homolog gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1605384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 13360083 NT5DC4 5'-nucleotidase domain containing 4 gene DOID:0112194 Filippi syndrome ISO RGD:1603155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Filippi syndrome PMID:25741868|PMID:28492532 13360083 NT5DC4 5'-nucleotidase domain containing 4 gene DOID:630 genetic disease ISO RGD:1603155 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 13365485 CNPY2 canopy FGF signaling regulator 2 gene DOID:630 genetic disease ISO RGD:1350709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13365485 CNPY2 canopy FGF signaling regulator 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1350709 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 13365485 CNPY2 canopy FGF signaling regulator 2 gene DOID:9000918 Disease Progression ISO RGD:1350709 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 13365485 CNPY2 canopy FGF signaling regulator 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1350709 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868 13367715 CIROP ciliated left-right organizer metallopeptidase gene DOID:9004727 Visceral Heterotaxy 12, Autosomal ISO RGD:13208685 D RGD:7240710 20220209 OMIM 13367715 CIROP ciliated left-right organizer metallopeptidase gene DOID:9004727 Visceral Heterotaxy 12, Autosomal ISO RGD:13208685 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 12, autosomal PMID:25741868 13368601 LKAAEAR1 LKAAEAR motif containing 1 gene DOID:630 genetic disease ISO RGD:1604727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13368898 LOC111093544 keratin-associated protein 21-2-like gene DOID:630 genetic disease ISO RGD:1346788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13372693 CCDC38 coiled-coil domain containing 38 gene DOID:630 genetic disease ISO RGD:1603366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13373493 MYMX myomixer, myoblast fusion factor gene DOID:9004768 Carey-Fineman-Ziter Syndrome 2 ISO RGD:12904116 D RGD:7240710 20220706 OMIM 13373493 MYMX myomixer, myoblast fusion factor gene DOID:9004768 Carey-Fineman-Ziter Syndrome 2 ISO RGD:12904116 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 PMID:35642635 13373787 HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1344226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 13373787 HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1344226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 13373787 HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:10316 pneumoconiosis ISO RGD:1344226 D RGD:9068941 20211217 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 13373787 HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:1826 epilepsy ISO RGD:1344226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 13373787 HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 13373787 HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:630 genetic disease ISO RGD:1344226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13373787 HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:9007991 Hereditary Angioedema 8 ISO RGD:1344226 D RGD:7240710 20211215 OMIM 13373787 HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:9007991 Hereditary Angioedema 8 ISO RGD:1344226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angioedema, hereditary, 8 PMID:33508266 13374569 EEF1AKMT3 EEF1A lysine methyltransferase 3 gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1346120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:28492532 13374569 EEF1AKMT3 EEF1A lysine methyltransferase 3 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1346120 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:25741868|PMID:29058690 13374569 EEF1AKMT3 EEF1A lysine methyltransferase 3 gene DOID:0111486 combined oxidative phosphorylation deficiency 3 ISO RGD:1346120 D RGD:7240710 20180130 OMIM 13374569 EEF1AKMT3 EEF1A lysine methyltransferase 3 gene DOID:0111486 combined oxidative phosphorylation deficiency 3 ISO RGD:1346120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 PMID:17033963|PMID:20435138|PMID:21119709|PMID:21169334|PMID:21741925|PMID:22277967|PMID:22499341|PMID:25037205|PMID:25078778|PMID:25741868|PMID:28074886|PMID:28492532|PMID:29261183|PMID:31267352|PMID:33816677 13374569 EEF1AKMT3 EEF1A lysine methyltransferase 3 gene DOID:0112267 nephrotic syndrome type 21 ISO RGD:1346120 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 21 PMID:25741868|PMID:29058690 13374569 EEF1AKMT3 EEF1A lysine methyltransferase 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1346120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17033963|PMID:20435138|PMID:21741925|PMID:22277967|PMID:25037205|PMID:25078778|PMID:25741868|PMID:28492532|PMID:29261183|PMID:33816677 13374569 EEF1AKMT3 EEF1A lysine methyltransferase 3 gene DOID:423 myopathy ISO RGD:1346120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal myopathy 13374569 EEF1AKMT3 EEF1A lysine methyltransferase 3 gene DOID:630 genetic disease ISO RGD:1346120 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17033963|PMID:20435138|PMID:21119709|PMID:21741925|PMID:22277967|PMID:22499341|PMID:25741868|PMID:28492532|PMID:31267352 13374569 EEF1AKMT3 EEF1A lysine methyltransferase 3 gene DOID:6846 familial melanoma ISO RGD:1346120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 13374569 EEF1AKMT3 EEF1A lysine methyltransferase 3 gene DOID:9008675 Dyskinesias ISO RGD:1346120 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:30297209 13375192 SPINK14 serine peptidase inhibitor Kazal type 14 (putative) gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601681 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 13375192 SPINK14 serine peptidase inhibitor Kazal type 14 (putative) gene DOID:630 genetic disease ISO RGD:1601681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13375192 SPINK14 serine peptidase inhibitor Kazal type 14 (putative) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 13375192 SPINK14 serine peptidase inhibitor Kazal type 14 (putative) gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601681 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 13376011 LOC111089988 zinc finger protein 677-like gene DOID:630 genetic disease ISO RGD:1603831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13383313 KLF2 KLF transcription factor 2 gene DOID:0080600 COVID-19 ISO RGD:1351701 D RGD:9068941 20210122 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 13383313 KLF2 KLF transcription factor 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1351701 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases 13383313 KLF2 KLF transcription factor 2 gene DOID:630 genetic disease ISO RGD:1351701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13383313 KLF2 KLF transcription factor 2 gene DOID:850 lung disease ISO RGD:1351701 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:21053160 13383313 KLF2 KLF transcription factor 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351701 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 13385227 POLR2L RNA polymerase II, I and III subunit L gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1349201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 13385227 POLR2L RNA polymerase II, I and III subunit L gene DOID:0080773 delta beta-thalassemia ISO RGD:1349201 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 13385227 POLR2L RNA polymerase II, I and III subunit L gene DOID:0111969 immunodeficiency 39 ISO RGD:1349201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 13385227 POLR2L RNA polymerase II, I and III subunit L gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1349201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 13385227 POLR2L RNA polymerase II, I and III subunit L gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1349201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 13385227 POLR2L RNA polymerase II, I and III subunit L gene DOID:630 genetic disease ISO RGD:1349201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13385227 POLR2L RNA polymerase II, I and III subunit L gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1349201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 13385278 OTUD1 OTU deubiquitinase 1 gene DOID:630 genetic disease ISO RGD:1344729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13389977 CCNL1 cyclin L1 gene DOID:630 genetic disease ISO RGD:733406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13390765 MTA3 metastasis associated 1 family member 3 gene DOID:3883 Lynch syndrome ISO RGD:1315624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 13390765 MTA3 metastasis associated 1 family member 3 gene DOID:630 genetic disease ISO RGD:1315624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13390765 MTA3 metastasis associated 1 family member 3 gene DOID:9007661 Dwarfism ISO RGD:1315624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 13391826 ZNF358 zinc finger protein 358 gene DOID:0080490 mucolipidosis type IV ISO RGD:1321306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 13391826 ZNF358 zinc finger protein 358 gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1321306 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 PMID:28492532 13391826 ZNF358 zinc finger protein 358 gene DOID:630 genetic disease ISO RGD:1321306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13395345 ADRA1D adrenoceptor alpha 1D gene DOID:0090103 Huntington's disease-like 1 ISO RGD:734051 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 13395345 ADRA1D adrenoceptor alpha 1D gene DOID:11612 polycystic ovary syndrome ISO RGD:62064 D RGD:9068941 20210122 RGD mRNA,protein:increased expression:ovary PMID:15795180|REF_RGD_ID:5508374 13395345 ADRA1D adrenoceptor alpha 1D gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:734051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 13395345 ADRA1D adrenoceptor alpha 1D gene DOID:630 genetic disease ISO RGD:734051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13395345 ADRA1D adrenoceptor alpha 1D gene DOID:9775 diastolic heart failure ISO RGD:734051 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 13404788 LOC111093530 keratin-associated protein 6-2-like gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:16570771 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 13407558 TPRX1 tetrapeptide repeat homeobox 1 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1604487 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs12462695) C>A (human) PMID:27354594|REF_RGD_ID:152177496 13407558 TPRX1 tetrapeptide repeat homeobox 1 gene DOID:0110333 Leber congenital amaurosis 7 ISO RGD:1604487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 7 PMID:28492532|PMID:30557390 13407558 TPRX1 tetrapeptide repeat homeobox 1 gene DOID:630 genetic disease ISO RGD:1604487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13410838 GARIN4 golgi associated RAB2 interactor family member 4 gene DOID:13501 Moebius syndrome ISO RGD:1606700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 13410838 GARIN4 golgi associated RAB2 interactor family member 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1606700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 13410838 GARIN4 golgi associated RAB2 interactor family member 4 gene DOID:630 genetic disease ISO RGD:1606700 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13410838 GARIN4 golgi associated RAB2 interactor family member 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 13413191 ACTMAP actin maturation protease gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1604490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 13413191 ACTMAP actin maturation protease gene DOID:1342 congenital hypoplastic anemia ISO RGD:1604490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 13413191 ACTMAP actin maturation protease gene DOID:2340 craniosynostosis ISO RGD:1604490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 13413191 ACTMAP actin maturation protease gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1604490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 13413191 ACTMAP actin maturation protease gene DOID:9269 maple syrup urine disease ISO RGD:1604490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 13416695 RFPL4B ret finger protein like 4B gene DOID:0060163 body dysmorphic disorder ISO RGD:1606355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 13416695 RFPL4B ret finger protein like 4B gene DOID:630 genetic disease ISO RGD:1606355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13418443 LOC111091403 zinc finger protein 555 gene DOID:630 genetic disease ISO RGD:1350400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13418443 LOC111091403 zinc finger protein 555 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 13419054 APOC4 apolipoprotein C4 gene DOID:630 genetic disease ISO RGD:736043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13419054 APOC4 apolipoprotein C4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736043 D RGD:9068941 20220908 RGD associated with hepatitis B; PMID:31211449|REF_RGD_ID:153350082 13420439 C2H1orf167 chromosome 2 C1orf167 homolog gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604177 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 13420439 C2H1orf167 chromosome 2 C1orf167 homolog gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604177 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 13420439 C2H1orf167 chromosome 2 C1orf167 homolog gene DOID:3393 coronary artery disease ISO RGD:1604177 D RGD:9068941 20200609 RGD DNA:SNP: :rs56001051(human) PMID:31175347|REF_RGD_ID:14696712 13420439 C2H1orf167 chromosome 2 C1orf167 homolog gene DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency ISO RGD:1604177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25741868 13420439 C2H1orf167 chromosome 2 C1orf167 homolog gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:1604177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive 13420439 C2H1orf167 chromosome 2 C1orf167 homolog gene DOID:9007096 Stroke ISO RGD:1604177 D RGD:9068941 20200609 RGD DNA:SNP: :rs56001051(human) PMID:31175347|REF_RGD_ID:14696712 13420439 C2H1orf167 chromosome 2 C1orf167 homolog gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1604177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 13421151 CXCL17 C-X-C motif chemokine ligand 17 gene DOID:0080600 COVID-19 ISO RGD:1602051 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 13421151 CXCL17 C-X-C motif chemokine ligand 17 gene DOID:5419 schizophrenia ISO RGD:1602051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 13421151 CXCL17 C-X-C motif chemokine ligand 17 gene DOID:630 genetic disease ISO RGD:1602051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13421906 ENDOU endonuclease, poly(U) specific gene DOID:630 genetic disease ISO RGD:1604059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13426375 ZFP37 ZFP37 zinc finger protein gene DOID:630 genetic disease ISO RGD:736935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13426375 ZFP37 ZFP37 zinc finger protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 13506172 CANFAMV1R558 vomeronasal 1 receptor canFamV1R558 gene DOID:630 genetic disease ISO RGD:1318565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 15003192 LOC116183080 tachykinin precursor 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1353248 D RGD:9068941 20230330 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 15003192 LOC116183080 tachykinin precursor 3 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1353248 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25636053 15003192 LOC116183080 tachykinin precursor 3 gene DOID:0090089 hypogonadotropic hypogonadism 10 with or without anosmia ISO RGD:1353248 D RGD:7240710 20230505 OMIM 15003192 LOC116183080 tachykinin precursor 3 gene DOID:0090089 hypogonadotropic hypogonadism 10 with or without anosmia ISO RGD:1353248 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 10 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 10 without anosmia PMID:19079066|PMID:20332248 15003192 LOC116183080 tachykinin precursor 3 gene DOID:10763 hypertension ISO RGD:3809 D RGD:9068941 20230330 RGD protein:increased expression:supraoptic nucleus, medulla oblongata PMID:2478257|REF_RGD_ID:2305983 15003192 LOC116183080 tachykinin precursor 3 gene DOID:1924 hypogonadism ISO RGD:1353248 D RGD:9068941 20230330 CTD CTD Direct Evidence: marker/mechanism PMID:19079066 15003192 LOC116183080 tachykinin precursor 3 gene DOID:5223 infertility ISO RGD:1353248 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Infertility PMID:25636053|PMID:28492532|PMID:29419413 15003192 LOC116183080 tachykinin precursor 3 gene DOID:630 genetic disease ISO RGD:1353248 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 15003192 LOC116183080 tachykinin precursor 3 gene DOID:9001239 Delayed Puberty ISO RGD:1353248 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:25636053|PMID:28492532|PMID:29419413 15036866 PCDHA11 protocadherin alpha 11 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1349379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 15036866 PCDHA11 protocadherin alpha 11 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349379 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036866 PCDHA11 protocadherin alpha 11 gene DOID:10487 Hirschsprung's disease ISO RGD:1349379 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 15036866 PCDHA11 protocadherin alpha 11 gene DOID:630 genetic disease ISO RGD:1349379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 15036866 PCDHA11 protocadherin alpha 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 15036866 PCDHA11 protocadherin alpha 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 15036866 PCDHA11 protocadherin alpha 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349379 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036868 PCDHA6 protocadherin alpha 6 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1344704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 15036868 PCDHA6 protocadherin alpha 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1344704 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036868 PCDHA6 protocadherin alpha 6 gene DOID:10283 prostate cancer ISO RGD:1344704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 15036868 PCDHA6 protocadherin alpha 6 gene DOID:10487 Hirschsprung's disease ISO RGD:1344704 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 15036868 PCDHA6 protocadherin alpha 6 gene DOID:2228 thrombocytosis ISO RGD:1344704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytosis PMID:25741868 15036868 PCDHA6 protocadherin alpha 6 gene DOID:630 genetic disease ISO RGD:1344704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 15036868 PCDHA6 protocadherin alpha 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 15036868 PCDHA6 protocadherin alpha 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344704 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036873 H3C11 H3 clustered histone 11 gene DOID:630 genetic disease ISO RGD:1349112 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 15036875 ARMC7 armadillo repeat containing 7 gene DOID:630 genetic disease ISO RGD:1347915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 15036876 PCDHA7 protocadherin alpha 7 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1353324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 15036876 PCDHA7 protocadherin alpha 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353324 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036876 PCDHA7 protocadherin alpha 7 gene DOID:10283 prostate cancer ISO RGD:1353324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 15036876 PCDHA7 protocadherin alpha 7 gene DOID:10487 Hirschsprung's disease ISO RGD:1353324 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 15036876 PCDHA7 protocadherin alpha 7 gene DOID:2228 thrombocytosis ISO RGD:1353324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytosis PMID:25741868 15036876 PCDHA7 protocadherin alpha 7 gene DOID:630 genetic disease ISO RGD:1353324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 15036876 PCDHA7 protocadherin alpha 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 15036876 PCDHA7 protocadherin alpha 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353324 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036877 PCDHA1 protocadherin alpha 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1352837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 15036877 PCDHA1 protocadherin alpha 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352837 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036877 PCDHA1 protocadherin alpha 1 gene DOID:10283 prostate cancer ISO RGD:1352837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 15036877 PCDHA1 protocadherin alpha 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1352837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 15036877 PCDHA1 protocadherin alpha 1 gene DOID:2228 thrombocytosis ISO RGD:1352837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytosis PMID:25741868 15036877 PCDHA1 protocadherin alpha 1 gene DOID:630 genetic disease ISO RGD:1352837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 15036877 PCDHA1 protocadherin alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 15036877 PCDHA1 protocadherin alpha 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352837 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036881 PCDHA10 protocadherin alpha 10 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1352620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 15036881 PCDHA10 protocadherin alpha 10 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352620 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036881 PCDHA10 protocadherin alpha 10 gene DOID:10283 prostate cancer ISO RGD:1352620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 15036881 PCDHA10 protocadherin alpha 10 gene DOID:10487 Hirschsprung's disease ISO RGD:1352620 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 15036881 PCDHA10 protocadherin alpha 10 gene DOID:2228 thrombocytosis ISO RGD:1352620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytosis PMID:25741868 15036881 PCDHA10 protocadherin alpha 10 gene DOID:630 genetic disease ISO RGD:1352620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 15036881 PCDHA10 protocadherin alpha 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 15036881 PCDHA10 protocadherin alpha 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352620 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036882 PCDHA12 protocadherin alpha 12 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1345752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 15036882 PCDHA12 protocadherin alpha 12 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1345752 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036882 PCDHA12 protocadherin alpha 12 gene DOID:10487 Hirschsprung's disease ISO RGD:1345752 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 15036882 PCDHA12 protocadherin alpha 12 gene DOID:630 genetic disease ISO RGD:1345752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 15036882 PCDHA12 protocadherin alpha 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 15036882 PCDHA12 protocadherin alpha 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 15036882 PCDHA12 protocadherin alpha 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345752 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036886 PCDHA3 protocadherin alpha 3 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:732264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 15036886 PCDHA3 protocadherin alpha 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732264 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036886 PCDHA3 protocadherin alpha 3 gene DOID:10283 prostate cancer ISO RGD:732264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 15036886 PCDHA3 protocadherin alpha 3 gene DOID:10487 Hirschsprung's disease ISO RGD:732264 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 15036886 PCDHA3 protocadherin alpha 3 gene DOID:2228 thrombocytosis ISO RGD:732264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytosis PMID:25741868 15036886 PCDHA3 protocadherin alpha 3 gene DOID:630 genetic disease ISO RGD:732264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 15036886 PCDHA3 protocadherin alpha 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:732264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 15036886 PCDHA3 protocadherin alpha 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 15036886 PCDHA3 protocadherin alpha 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732264 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036888 PCDHA4 protocadherin alpha 4 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:733347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 15036888 PCDHA4 protocadherin alpha 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733347 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036888 PCDHA4 protocadherin alpha 4 gene DOID:10283 prostate cancer ISO RGD:733347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 15036888 PCDHA4 protocadherin alpha 4 gene DOID:10487 Hirschsprung's disease ISO RGD:733347 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 15036888 PCDHA4 protocadherin alpha 4 gene DOID:2228 thrombocytosis ISO RGD:733347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytosis PMID:25741868 15036888 PCDHA4 protocadherin alpha 4 gene DOID:630 genetic disease ISO RGD:733347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 15036888 PCDHA4 protocadherin alpha 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 15036888 PCDHA4 protocadherin alpha 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733347 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 15036889 MKI67IP MKI67 (FHA domain) interacting nucleolar phosphoprotein gene DOID:3910 lung adenocarcinoma EXP D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 15036889 MKI67IP MKI67 (FHA domain) interacting nucleolar phosphoprotein gene DOID:9006205 Animal Disease Models EXP D RGD:11554173 20191203 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 150518273 CVCL_A0XA Wall cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20211013 CELLOSAURUS NCI:C120045 150518278 CVCL_A0WU Dark cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20211013 CELLOSAURUS NCI:C120045 150518279 CVCL_A0WV Desmond cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20211013 CELLOSAURUS NCI:C120045 150518280 CVCL_A0WW Lord cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20211013 CELLOSAURUS NCI:C120045 150518281 CVCL_A0WX Pedro cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20211013 CELLOSAURUS NCI:C120045 150518282 CVCL_A0WY Penny cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20211013 CELLOSAURUS NCI:C120045 150518283 CVCL_A0WZ Sky cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20211013 CELLOSAURUS NCI:C120045 150518289 CVCL_A0WS DOUG cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20211013 CELLOSAURUS NCI:C120045 150518731 CVCL_A8JR CMT-7364 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20211013 CELLOSAURUS NCI:C124249 151358782 CVCL_B3SL CMT-1026 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20220223 CELLOSAURUS NCI:C124249 151667159 CVCL_B6ZB IMC-118 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20220406 CELLOSAURUS NCI:C124249 151667190 CVCL_B6YG 0840-FusionRed cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20220406 CELLOSAURUS NCI:C128126 151667191 CVCL_B6YF EO-1 cell line DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma IEA D RGD:21410187 20220406 CELLOSAURUS NCI:C186279 151667193 CVCL_B6YH 0846-FusionRed cell line DOID:10286 prostate carcinoma IEA D RGD:21410187 20220406 CELLOSAURUS NCI:C128122 152995846 CVCL_B7H9 CMT-Star cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20220629 CELLOSAURUS NCI:C124249 152995849 CVCL_B7H8 CMT-Stylo cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20220629 CELLOSAURUS NCI:C124249 152996158 CVCL_B7DS Kodiak2016 cell line DOID:10286 prostate carcinoma IEA D RGD:21410187 20220629 CELLOSAURUS NCI:C128122 152998773 CVCL_C0Q1 GL-40 cell line DOID:1240 leukemia IEA D RGD:21410187 20220629 CELLOSAURUS NCI:C128120 153323332 PTCD1 pentatricopeptide repeat domain 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322951 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 153323332 PTCD1 pentatricopeptide repeat domain 1 gene DOID:630 genetic disease ISO RGD:1322951 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 153323332 PTCD1 pentatricopeptide repeat domain 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1322951 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:20818383|PMID:25741868 155260555 CVCL_C1H0 CMT-1 c3 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C124249 155260557 CVCL_C1H2 CMT-1 c5 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C124249 155260559 CVCL_C1H1 CMT-1 c4 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C124249 155260561 CVCL_C1H4 CMT-2 c2 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C124249 155260563 CVCL_C1H3 CMT-2 c1 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C124249 155260565 CVCL_C1H6 CMT-2 c4 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C124249 155260567 CVCL_C1H5 CMT-2 c3 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C124249 155261374 CVCL_C1HB CMT-7 c3 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C124249 155261375 CVCL_C1HA CMT-7 c2 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C124249 155261376 CVCL_C1HD CMT-7 c5 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C124249 155261377 CVCL_C1HC CMT-7 c4 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C124249 155261380 CVCL_C1H8 CMT-7 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C124249 155261382 CVCL_C1H7 CMT-2 c5 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C124249 155261384 CVCL_C1GY CMT-1 c1 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C124249 155261385 CVCL_C1H9 CMT-7 c1 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C124249 155261387 CVCL_C1GZ CMT-1 c2 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C124249 155261404 CVCL_C1II CMT-12CnB7-2Q2 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C124249 155261405 CVCL_C1IH CMT-12CnB7-1R26 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C124249 155261407 CVCL_C1IJ CMT-12HuB7-2C10 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C124249 155261417 CVCL_C1IG CMT-12CnB7-1R25 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C124249 21079727 DERPC DERPC proline and glycine rich nuclear protein gene DOID:630 genetic disease ISO RGD:13825203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 21086932 CVCL_GT44 G cell line DOID:3664 mast cell neoplasm IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C129077 21086935 CVCL_GT45 NI-1 cell line DOID:3664 mast cell neoplasm IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C129077 21086944 CVCL_GT42 BR cell line DOID:3664 mast cell neoplasm IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C129077 21086946 CVCL_GT43 CL1 [Dog mastocytoma] cell line DOID:3664 mast cell neoplasm IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C129077 21086949 CVCL_GT19 TO4 Y56A cell line DOID:14566 disease of cellular proliferation IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C134526 21088431 CVCL_H746 CaOs-1 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21088802 CVCL_6E27 CHP-1 cell line DOID:10286 prostate carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128122 21089960 CVCL_YD92 TOB cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21089964 CVCL_YD93 TOK [Dog] cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21089965 CVCL_YD94 TOL cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21089966 CVCL_YD95 TOM cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21089967 CVCL_YD96 TOT cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21093360 CVCL_GY96 SH [Dog hemangiosarcoma] cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C122783 21093362 CVCL_GY90 KOS-002 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21093363 CVCL_GY91 KOS-003 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21093364 CVCL_GY92 KOS-004 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21093365 CVCL_GY93 KTOSA5 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21093428 CVCL_GY89 KOS-001 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21106390 CVCL_A016 Leo cell line DOID:10286 prostate carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128122 21109675 CVCL_J360 CLAC cell line DOID:3910 lung adenocarcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C129299 21110025 CVCL_J403 CMT-U335 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21110031 CVCL_J400 CMT-U304 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21110033 CVCL_J402 CMT-U334 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21110035 CVCL_J401 CMT-U309 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21111079 CVCL_IU62 PWC-HS01 cell line DOID:0080915 histiocytic sarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128125 21111081 CVCL_IU61 FCR-HS02 cell line DOID:0080915 histiocytic sarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128125 21111544 CVCL_RG68 JSP cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C122783 21112600 CVCL_IP76 SNP cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21113198 CVCL_IZ51 A72F cell line DOID:14566 disease of cellular proliferation IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C134526 21113201 CVCL_IZ50 A72E cell line DOID:14566 disease of cellular proliferation IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C134526 21113226 CVCL_IZ49 3132 cell line DOID:0080915 histiocytic sarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128125 21113235 CVCL_IZ42 K9OSCC-Abby cell line DOID:0050866 oral squamous cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C132823 21113250 CVCL_IZ10 CML-6MC2 cell line DOID:1909 melanoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120298 21114772 CVCL_RW43 MTH52c cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21115708 CVCL_S236 CF29.Mg cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21115739 CVCL_S240 CF15.T cell line DOID:14566 disease of cellular proliferation IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C134526 21116262 CVCL_S349 D21 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21116646 CVCL_S498 D39 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21119641 CVCL_RY00 BD [Dog histiocytic sarcoma] cell line DOID:0080915 histiocytic sarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128125 21120180 CVCL_JA43 GM00758 cell line DOID:10587 Krabbe disease IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C133088 21121357 CVCL_0A74 OSCA-02 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21121358 CVCL_0A73 OSCA-00 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21121359 CVCL_0A76 OSCA-05 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21121360 CVCL_0A75 OSCA-03 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21121361 CVCL_0A78 OSCA-09 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21121362 CVCL_0A77 OSCA-07 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21121363 CVCL_0A79 OSCA-10 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21121426 CVCL_0A28 FVMUT-CFMG-1 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21121619 CVCL_0A85 OSCA-26 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21121620 CVCL_0A84 OSCA-24 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21121621 CVCL_0A87 OSCA-28 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21121622 CVCL_0A86 OSCA-27 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21121623 CVCL_0A89 OSCA-35 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21121624 CVCL_0A88 OSCA-31 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21121632 CVCL_0A81 OSCA-14 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21121634 CVCL_0A80 OSCA-13 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21121636 CVCL_0A83 OSCA-18 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21121638 CVCL_0A82 OSCA-15 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21121639 CVCL_0A96 OSCA-44 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21121640 CVCL_0A95 OSCA-43 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21121641 CVCL_0A98 OSCA-47 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21121642 CVCL_0A97 OSCA-46 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21121643 CVCL_0A99 OSCA-48 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21121650 CVCL_0A90 OSCA-36 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21121652 CVCL_0A92 OSCA-38 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21121654 CVCL_0A91 OSCA-37 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21121656 CVCL_0A94 OSCA-42 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21121658 CVCL_0A93 OSCA-39 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21122412 CVCL_0B00 OSCA-49 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21122413 CVCL_0B02 OSCA-52 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21122414 CVCL_0B01 OSCA-51 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21122415 CVCL_0B04 OSCA-54 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21122416 CVCL_0B03 OSCA-53M cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21122417 CVCL_0B06 OSCA-61 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21122418 CVCL_0B05 OSCA-58 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21122419 CVCL_0B08 OSCA-64M cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21122420 CVCL_0B07 OSCA-63 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21122421 CVCL_0B09 OSCA-65 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21122432 CVCL_0B11 OSCA-68 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21122433 CVCL_0B10 OSCA-66 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21122434 CVCL_0B13 OSCA-70 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21122435 CVCL_0B12 OSCA-69 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21122436 CVCL_0B15 OSCA-74 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21122437 CVCL_0B14 OSCA-72 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21122438 CVCL_0B17 OSCA-62 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21122439 CVCL_0B16 OSCA-76 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21122440 CVCL_0B19 OSW cell line DOID:0060058 lymphoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128121 21122441 CVCL_0B18 17-71 cell line DOID:0060058 lymphoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128121 21122557 CVCL_0C86 PL-20 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21122558 CVCL_0C89 CHAD-G4 cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C122783 21122559 CVCL_0C88 CHAD-B7 cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C122783 21122562 CVCL_0C94 DD-1 [Dog hemangiosarcoma] cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C122783 21122563 CVCL_0C93 Dal-4 cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C122783 21122564 CVCL_0C96 Emma-brain cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C122783 21122565 CVCL_0C95 SB-HSA cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C122783 21122566 CVCL_0C98 Joey-HSA cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C122783 21122567 CVCL_0C97 Frog-HSA cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C122783 21122568 CVCL_0C99 Journey-HSA cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C122783 21122569 CVCL_0C90 CHAD-G6 cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C122783 21122570 CVCL_0C92 CHAD-P9 cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C122783 21122571 CVCL_0C91 CHAD-G8 cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C122783 21122578 CVCL_0C67 340529 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21122579 CVCL_0C66 48-4 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21122581 CVCL_0C68 348617 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21124168 CVCL_JJ86 DTK-F cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21127321 CVCL_JX29 CMT7 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21127323 CVCL_JX26 SH3 [Dog mammary carcinoma] cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21127325 CVCL_JX25 SH1b cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21127327 CVCL_JX28 SH2 [Dog mammary carcinoma] cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21127329 CVCL_JX27 SH1a cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21127335 CVCL_JX24 P120 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21127359 CVCL_JX30 CMT8 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21127928 CVCL_0D70 M [Dog melanoma] cell line DOID:1909 melanoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120298 21128422 CVCL_0D24 CML-6M cell line DOID:1909 melanoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120298 21128459 CVCL_0D00 Mocha-HSA cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C122783 21128460 CVCL_0D02 Veronica-HSA cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C122783 21128461 CVCL_0D01 Tucker-HSA cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C122783 21128462 CVCL_0D04 Grace-HSA cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C122783 21128463 CVCL_0D03 Connor-HSA cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C122783 21128464 CVCL_0D06 Max-ST cell line DOID:1115 sarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C132276 21128465 CVCL_0D05 Spry-STS cell line DOID:1115 sarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C132276 21128479 CVCL_0D11 Mel 64 cell line DOID:1909 melanoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120298 21128982 CVCL_JQ49 CMT7364/5-FU cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21128985 CVCL_JQ48 CMT7364 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21130824 CVCL_0Q77 IPC-366 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21131152 CVCL_T997 REM 134 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21138799 CVCL_1917 DAN cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21138801 CVCL_1916 D-17 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21138803 CVCL_1919 DSN cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21138805 CVCL_1918 DSDh cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21139828 CVCL_L149 CIPp cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21139830 CVCL_L148 CIPm cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21139832 CVCL_L145 CHMp-5b cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21139834 CVCL_L144 CHMp-13a cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21139836 CVCL_L147 CHMp cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21139838 CVCL_L146 CHMm cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21140191 CVCL_L152 CNMm cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21140194 CVCL_L151 CTBp cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21140199 CVCL_L153 CNMp cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21140204 CVCL_L150 CTBm cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21140320 CVCL_L307 11028 cell line DOID:1115 sarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128195 21140328 CVCL_L309 Abrams cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21140332 CVCL_L308 11031 cell line DOID:1115 sarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128195 21140948 CVCL_L418 RK9ML-1 cell line DOID:1240 leukemia IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128120 21140950 CVCL_L413 POS [Dog osteosarcoma] cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21140956 CVCL_L414 PTCC cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 21140958 CVCL_L411 P404 cell line DOID:4905 pancreatic carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C134944 21140960 CVCL_L410 P114 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21140988 CVCL_L422 Vogel cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21140990 CVCL_L421 UL-1 [Dog leukemia] cell line DOID:1240 leukemia IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128120 21141007 CVCL_L409 OSCA-99 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141011 CVCL_L406 OSCA-84 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141014 CVCL_L405 OSCA-08 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141017 CVCL_L408 OSCA-98 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141020 CVCL_L407 OSCA-96 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141022 CVCL_L402 OSCA-75 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141024 CVCL_L401 OSCA-73 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141026 CVCL_L404 OSCA-78 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141028 CVCL_L403 OSCA-77 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141030 CVCL_L400 OSCA-71 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141078 CVCL_L379 OSCA-20 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141081 CVCL_L376 OSCA-16 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141083 CVCL_L375 OSCA-12 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141084 CVCL_L378 OSCA-19 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141086 CVCL_L377 OSCA-17 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141090 CVCL_L372 OSCA-01 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141092 CVCL_L371 OS2.4/Doxo cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141095 CVCL_L374 OSCA-11M cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141098 CVCL_L373 OSCA-109 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141103 CVCL_L370 OS2.4 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141111 CVCL_L387 OSCA-33 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141113 CVCL_L386 OSCA-32 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141115 CVCL_L389 OSCA-40 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141117 CVCL_L388 OSCA-04 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141119 CVCL_L383 OSCA-25 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141120 CVCL_L382 OSCA-23 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141124 CVCL_L385 OSCA-30 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141127 CVCL_L384 OSCA-29 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141131 CVCL_L381 OSCA-22 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141134 CVCL_L380 OSCA-21 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141137 CVCL_L358 Ingles cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141139 CVCL_L357 Hughes cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141141 CVCL_L359 Jarques cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141143 CVCL_L354 Grey cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141145 CVCL_L353 Gracie cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141147 CVCL_L356 HOS [Dog osteosarcoma] cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141149 CVCL_L355 HMPOS cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141151 CVCL_L350 Ema cell line DOID:0060058 lymphoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128121 21141153 CVCL_L352 GL-1 [Dog leukemia] cell line DOID:1240 leukemia IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128120 21141162 CVCL_L369 OOS [Dog osteosarcoma] cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141164 CVCL_L368 Nody-1 cell line DOID:0060058 lymphoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128121 21141166 CVCL_L365 MCM-B2 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21141167 CVCL_L364 MBSa1 cell line DOID:1115 sarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128195 21141170 CVCL_L367 MPT-1 cell line DOID:3664 mast cell neoplasm IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C129077 21141171 CVCL_L366 MCO-Y4 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141178 CVCL_L363 Marisco cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141179 CVCL_L362 MacKinley cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141182 CVCL_L339 CMT-W2M cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21141184 CVCL_L336 CMT-W1 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21141186 CVCL_L335 CMT-U27 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21141188 CVCL_L338 CMT-W2 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21141190 CVCL_L337 CMT-W1M cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21141192 CVCL_L332 CMT-U131 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21141193 CVCL_L331 CMT-U111 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21141195 CVCL_L334 CMT-U229 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21141197 CVCL_L333 CMT-U155 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21141199 CVCL_L330 CMT25 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21141202 CVCL_L347 COS31/rCDDP cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141204 CVCL_L346 COS31 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141206 CVCL_L349 COSCA-Pr cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141208 CVCL_L348 COSCA-T cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141210 CVCL_L343 CO7 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141212 CVCL_L342 CO5 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141214 CVCL_L345 CoMS cell line DOID:3664 mast cell neoplasm IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C129077 21141216 CVCL_L344 CO8 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141218 CVCL_L341 CO3 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141220 CVCL_L340 CO2 [Dog osteosarcoma] cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141233 CVCL_L318 CHS-5 cell line DOID:0080915 histiocytic sarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128125 21141237 CVCL_L317 CHS-4 cell line DOID:0080915 histiocytic sarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128125 21141243 CVCL_L319 CHS-6 cell line DOID:0080915 histiocytic sarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128125 21141247 CVCL_L314 CHS-1 cell line DOID:0080915 histiocytic sarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128125 21141249 CVCL_L313 cHCC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C129298 21141251 CVCL_L316 CHS-3 cell line DOID:0080915 histiocytic sarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128125 21141253 CVCL_L315 CHS-2 cell line DOID:0080915 histiocytic sarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128125 21141255 CVCL_L310 Ace-1 cell line DOID:10286 prostate carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128122 21141257 CVCL_L312 CCT [Dog] cell line DOID:0080915 histiocytic sarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128125 21141259 CVCL_L311 BACA cell line DOID:3910 lung adenocarcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C129299 21141273 CVCL_L329 CMT12 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21141277 CVCL_L328 CMS-C cell line DOID:3247 rhabdomyosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C129300 21141285 CVCL_L325 CLK cell line DOID:0060058 lymphoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128121 21141287 CVCL_L324 CLC [Dog lymphoma] cell line DOID:0060058 lymphoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128121 21141289 CVCL_L327 CMeC-2 cell line DOID:1909 melanoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120298 21141290 CVCL_L326 CMeC-1 cell line DOID:1909 melanoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120298 21141292 CVCL_L321 CL-1 cell line DOID:1240 leukemia IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128120 21141294 CVCL_L320 CHS-7 cell line DOID:0080915 histiocytic sarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128125 21141296 CVCL_L323 CLBL-1M cell line DOID:0060058 lymphoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128121 21141298 CVCL_L322 CLBL-1 cell line DOID:0060058 lymphoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128121 21141416 CVCL_L398 OSCA-60 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141418 CVCL_L397 OSCA-06M cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141421 CVCL_L399 OSCA-67 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141424 CVCL_L394 OSCA-56 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141426 CVCL_L393 OSCA-55 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141430 CVCL_L396 OSCA-59 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141433 CVCL_L395 OSCA-57 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141436 CVCL_L390 OSCA-41 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141439 CVCL_L392 OSCA-50 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21141442 CVCL_L391 OSCA-45 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21145084 CVCL_U521 CMT-4 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21145086 CVCL_U522 CMT9 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21145088 CVCL_U520 CMT-3 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21145556 CVCL_2018 DH82 cell line DOID:0080915 histiocytic sarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128125 21150553 CVCL_1R42 CMT28 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21150554 CVCL_1R43 C1 [Dog mastocytoma] cell line DOID:3664 mast cell neoplasm IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C129077 21150559 CVCL_1R41 CMT27 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21150564 CVCL_1R44 C2 [Dog mastocytoma] cell line DOID:3664 mast cell neoplasm IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C129077 21150684 CVCL_1R35 K9TCC#1Lillie cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 21150686 CVCL_1R36 K9TCC#2Dakota cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 21150688 CVCL_1R33 DEN-HSA cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C122783 21150690 CVCL_1R34 Fitz-HSA cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C122783 21150694 CVCL_1R37 K9TCC#4Molly cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 21150696 CVCL_1R38 K9TCC#5Lilly cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 21151467 CVCL_LJ43 HCC930599 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C129298 21151994 CVCL_D274 STSA-1 cell line DOID:1115 sarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C132276 21157873 CVCL_CW16 FR37-CMT cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21161946 CVCL_V243 GM11474 cell line DOID:3322 GM1 gangliosidosis IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C129034 21161949 CVCL_V242 GM11473 cell line DOID:3322 GM1 gangliosidosis IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C129034 21163058 CVCL_DA11 Ace-1(CMV) cell line DOID:10286 prostate carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128122 21163059 CVCL_DA12 Ace-1(huGRPr) cell line DOID:10286 prostate carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128122 21164266 CVCL_DN58 CT1258-EGFP-HMGA2 cell line DOID:10286 prostate carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128122 21164267 CVCL_DN59 DPC-1 cell line DOID:10286 prostate carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128122 21164272 CVCL_DN56 CPA-1 cell line DOID:10286 prostate carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128122 21164273 CVCL_DN57 CT1258-EGFP cell line DOID:10286 prostate carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128122 21164276 CVCL_DN27 Bliley cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 21164277 CVCL_DN28 Jones cell line DOID:1909 melanoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120298 21164278 CVCL_DN25 K9TCC-PU-Pu cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 21164279 CVCL_DN26 K9TCC-PU-Sh cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 21164280 CVCL_DN29 MH/Nike cell line DOID:0080915 histiocytic sarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128125 21164281 CVCL_DN20 K9TCC-PU-AxA cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 21164282 CVCL_DN23 K9TCC-PU-Mx cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 21164283 CVCL_DN24 K9TCC-PU-Nk cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 21164284 CVCL_DN21 K9TCC-PU-AxC cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 21164285 CVCL_DN22 K9TCC-PU-In cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 21164290 CVCL_DN30 Yamane cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21164291 CVCL_DN31 Talsky cell line DOID:1909 melanoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120298 21164294 CVCL_DN32 Parks cell line DOID:1909 melanoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120298 21164310 CVCL_DN18 K9TCC cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 21164311 CVCL_DN19 K9TCC-PU-An cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 21164422 CVCL_DN66 Probasco cell line DOID:10286 prostate carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128122 21164927 CVCL_3461 DH82ECOK cell line DOID:0080915 histiocytic sarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128125 21164928 CVCL_3453 A-72 cell line DOID:14566 disease of cellular proliferation IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C134526 21164939 CVCL_3458 D22 [Dog] cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21165673 CVCL_3663 CLN cell line DOID:14566 disease of cellular proliferation IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C134526 21166295 CVCL_DI60 PER-VAS cell line DOID:0060058 lymphoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128121 21166296 CVCL_DI61 CLL-1390 cell line DOID:1240 leukemia IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128120 21166299 CVCL_DI62 CLGL-90 cell line DOID:1240 leukemia IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128120 21170786 CVCL_N777 CF51.Mg/L3 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21170790 CVCL_N775 CF45A.Mg cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21170792 CVCL_N776 CF51.Mg/L1 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21174016 CVCL_N510 SCC 2/88 cell line DOID:0050866 oral squamous cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C132823 21177402 CVCL_W737 TihoDProAdcarc1258 cell line DOID:10286 prostate carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128122 21178011 CVCL_W825 DL3580 clone 1 cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C129297 21178013 CVCL_W824 J3T-2 cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C129297 21178015 CVCL_W823 J3T-1 cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C129297 21178017 CVCL_W822 J3T cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C129297 21178023 CVCL_W827 DL3580 clone 3 cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C129297 21178025 CVCL_W826 DL3580 clone 2 cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C129297 21178151 CVCL_4155 CTAC cell line DOID:3962 thyroid gland follicular carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C132275 21184289 CVCL_WH14 FB-LCH01 cell line DOID:2571 Langerhans-cell histiocytosis IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C158785 21184293 CVCL_WH18 CMM11 cell line DOID:1909 melanoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120298 21184295 CVCL_WH17 CMM10 cell line DOID:1909 melanoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120298 21184296 CVCL_WH16 13020 cell line DOID:9253 gastrointestinal stromal tumor IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C158783 21184298 CVCL_WH15 13008 cell line DOID:2411 granular cell tumor IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C158784 21184304 CVCL_WH19 CMM12 cell line DOID:1909 melanoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120298 21184539 CVCL_WH50 CSCC-R1 cell line DOID:0050866 oral squamous cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C132823 21184540 CVCL_WH54 POCO cell line DOID:0050866 oral squamous cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C132823 21184541 CVCL_WH53 KUCKY cell line DOID:0050866 oral squamous cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C132823 21184542 CVCL_WH52 HAPPY cell line DOID:0050866 oral squamous cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C132823 21184543 CVCL_WH51 CTCJ cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 21184546 CVCL_WH56 SYRUP cell line DOID:0050866 oral squamous cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C132823 21184547 CVCL_WH55 SQ4 cell line DOID:0050866 oral squamous cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C132823 21184559 CVCL_WH43 VI-MC cell line DOID:3664 mast cell neoplasm IEA D RGD:21410187 20220223 CELLOSAURUS NCI:C129077 21184560 CVCL_WH42 CM-MC cell line DOID:3664 mast cell neoplasm IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C129077 21184575 CVCL_WH32 M25 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21184576 CVCL_WH31 MonoTCC cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 21184577 CVCL_WH30 MegTCC cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 21184578 CVCL_WH36 EMC-1 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21184579 CVCL_WH35 RION cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21184580 CVCL_WH34 RIAM cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21184581 CVCL_WH33 M5 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21184583 CVCL_WH38 NML cell line DOID:1909 melanoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120298 21184590 CVCL_WH21 CMM8 cell line DOID:1909 melanoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120298 21184591 CVCL_WH20 CMM7 cell line DOID:1909 melanoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120298 21184592 CVCL_WH25 Peace cell line DOID:2154 nephroblastoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C158786 21184593 CVCL_WH24 Love cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 21184594 CVCL_WH23 Gen cell line DOID:3910 lung adenocarcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C129299 21184595 CVCL_WH22 CMM9 cell line DOID:1909 melanoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120298 21184596 CVCL_WH29 MCTCC cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 21184597 CVCL_WH28 LCTCC cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 21184598 CVCL_WH27 TCCUB cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 21184599 CVCL_WH26 Sora cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 21185308 CVCL_X352 UWKOS3 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21185311 CVCL_X351 UWKOS2 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21185313 CVCL_X350 UWKOS1 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21185317 CVCL_X355 UWKOS8 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21185319 CVCL_X354 UWKOS7 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21185321 CVCL_X353 UWKOS6 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21185684 CVCL_FA25 COS_1033 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21185685 CVCL_FA24 COS_1220 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21185699 CVCL_FA12 DLC 01 cell line DOID:0060058 lymphoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128121 21185700 CVCL_FA11 CLB70 cell line DOID:1240 leukemia IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128120 21185710 CVCL_FA23 COS_1189 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21185711 CVCL_FA22 COS_1186w cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21185712 CVCL_FA21 COS_1186h cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21185713 CVCL_FA20 CHKS-4 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C129298 21185717 CVCL_FA13 DLC 02 cell line DOID:1240 leukemia IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128120 21185718 CVCL_FA19 CHKS-3 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C129298 21185719 CVCL_FA18 CHKS-2 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C129298 21185720 CVCL_FA17 CHKS-1 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C129298 21185910 CVCL_WS62 Kinsey cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 21185911 CVCL_WS61 Angus cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 21185918 CVCL_WS65 Tyler2 cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 21185920 CVCL_WS64 Tyler1 cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 21185921 CVCL_WS63 Cindy cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C122783 21186014 CVCL_WS15 DogMTC cell line DOID:3973 thyroid gland medullary carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C161006 21188295 CVCL_X218 CMT-1 [Poodle] cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21188302 CVCL_X220 CMT-5 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21188309 CVCL_X221 CMT-6 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21189904 CVCL_WW14 CTVT cell line cell line DOID:9005807 Veterinary Venereal Tumors IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C162473 21190627 CVCL_5261 CF35.Mg cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21190629 CVCL_5260 CF34.Mg cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21190633 CVCL_5264 CF41.Mg cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21190645 CVCL_5255 CF24.T cell line DOID:14566 disease of cellular proliferation IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C134526 21190647 CVCL_5259 CF33.MT cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21190675 CVCL_5267 CF45B.Mg cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21190737 CVCL_5254 CF21.T cell line DOID:14566 disease of cellular proliferation IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C134526 21190739 CVCL_5253 CF17.T cell line DOID:14566 disease of cellular proliferation IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C134526 21190741 CVCL_5252 CF11.T cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C120045 21192761 CVCL_5A70 REM 367 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21192786 CVCL_5A69 REM 111 cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21194842 CVCL_5I33 COSB cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C122783 21194862 CVCL_5I40 JHE cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C122783 21194865 CVCL_5I42 JLU cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C122783 21194866 CVCL_5I41 JLI cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C122783 21194910 CVCL_5I29 Emma-spleen cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C122783 21200799 CVCL_Y463 DTK-E cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 21200813 CVCL_Y464 DTK-SME cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C124249 288083803 CVCL_C7GG CMT-1 [Chihuahua] cell line DOID:3459 breast carcinoma IEA D RGD:21410187 20230419 CELLOSAURUS NCI:C124249 35669099 CVCL_ZB61 DHSA-1426 cell line DOID:0001816 angiosarcoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C122783 35669408 CVCL_ZE80 LuMa cell line DOID:10286 prostate carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128122 35669409 CVCL_ZE81 LuMa-Luc cell line DOID:10286 prostate carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128122 35669415 CVCL_ZE83 CT1258-FusionRed cell line DOID:10286 prostate carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128122 35669416 CVCL_ZE84 CT1258-mKate2C cell line DOID:10286 prostate carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128122 35669417 CVCL_ZE85 CT1258-TurboFP650 cell line DOID:10286 prostate carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128122 35670841 CVCL_ZV56 TihoDProAdcarc1511.1 cell line DOID:10286 prostate carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128122 35670842 CVCL_ZV57 TihoDProMetadcarc1511.2 cell line DOID:10286 prostate carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128122 35670843 CVCL_ZV58 TihoDProMetadcarc1511.3 cell line DOID:10286 prostate carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128122 35670844 CVCL_ZV59 TihoDProCarc/TCC0840 cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 35670849 CVCL_ZV60 TihoDProTCC1509 cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 35670850 CVCL_ZV61 TihoDUrtTCC1506 cell line DOID:2671 transitional cell carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128126 35670859 CVCL_ZV54 TihoDProAdcarc0846 cell line DOID:10286 prostate carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128122 35670860 CVCL_ZV55 TihoDProAdcarc1508 cell line DOID:10286 prostate carcinoma IEA D RGD:21410187 20200918 CELLOSAURUS NCI:C128122 40819503 CVCL_A9PA CLBL-1/luc cell line DOID:0060058 lymphoma IEA D RGD:21410187 20210310 CELLOSAURUS NCI:C128121 40822737 OR10H1E olfactory receptor family 10 subfamily H member 1E gene DOID:630 genetic disease ISO RGD:1344881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40822747 OR5AR1 olfactory receptor family 5 subfamily AR member 1 gene DOID:1059 intellectual disability ISO RGD:1346704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 40822747 OR5AR1 olfactory receptor family 5 subfamily AR member 1 gene DOID:630 genetic disease ISO RGD:1346704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40907081 SHISA2 shisa family member 2 gene DOID:630 genetic disease ISO RGD:1353356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40907149 NCBP2AS2 NCBP2 antisense 2 (head to head) gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:2291780 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 40907149 NCBP2AS2 NCBP2 antisense 2 (head to head) gene DOID:12849 autistic disorder ISO RGD:2291780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40907149 NCBP2AS2 NCBP2 antisense 2 (head to head) gene DOID:5419 schizophrenia ISO RGD:2291780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40907188 LOC119868531 heat shock transcription factor, X-linked member 3-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:12800599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 40907188 LOC119868531 heat shock transcription factor, X-linked member 3-like gene DOID:12849 autistic disorder ISO RGD:12800599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40907200 PROK2 prokineticin 2 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1350776 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 40907200 PROK2 prokineticin 2 gene DOID:0090077 hypogonadotropic hypogonadism 4 with or without anosmia ISO RGD:1350776 D RGD:7240710 20210113 OMIM 40907200 PROK2 prokineticin 2 gene DOID:0090077 hypogonadotropic hypogonadism 4 with or without anosmia ISO RGD:1350776 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 4 with or without anosmia PMID:17054399|PMID:17959774|PMID:18285834|PMID:18559922|PMID:18682503|PMID:23643382|PMID:24423319|PMID:25741868|PMID:26141714|PMID:26467025|PMID:28492532|PMID:31200363 40907200 PROK2 prokineticin 2 gene DOID:13938 amenorrhea ISO RGD:1350776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 40907200 PROK2 prokineticin 2 gene DOID:1921 Klinefelter syndrome ISO RGD:1350776 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 40907200 PROK2 prokineticin 2 gene DOID:1923 disorder of sexual development ISO RGD:1350776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 40907200 PROK2 prokineticin 2 gene DOID:3614 Kallmann syndrome ISO RGD:1350776 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism 40907200 PROK2 prokineticin 2 gene DOID:630 genetic disease ISO RGD:1350776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40907200 PROK2 prokineticin 2 gene DOID:9002211 Hyperalgesia ISO RGD:1350776 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:16793879 40907210 FABP2 fatty acid binding protein 2 gene DOID:13001 carotid stenosis ISO RGD:735842 D RGD:9068941 20210122 RGD PMID:16013194|REF_RGD_ID:1582392 40907210 FABP2 fatty acid binding protein 2 gene DOID:14018 alcoholic liver cirrhosis onset ISO RGD:735842 D RGD:9068941 20210122 RGD DNA:polymorphism:CDS:amino acid A54T, homozygosity of the T allele associated with later onset PMID:16289894|REF_RGD_ID:1578455 40907210 FABP2 fatty acid binding protein 2 gene DOID:3393 coronary artery disease ISO RGD:735842 D RGD:9068941 20210122 RGD DNA:SNP:CDS:2445G>A, amino acid A54T, associated with Diabetes Mellitus, Type 2 (MeSH:D003924) in women PMID:15059615|REF_RGD_ID:1626412 40907210 FABP2 fatty acid binding protein 2 gene DOID:630 genetic disease ISO RGD:735842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40907210 FABP2 fatty acid binding protein 2 gene DOID:783 end stage renal disease ISO RGD:735842 D RGD:9068941 20210122 RGD DNA:polymorphism:CDS:amino acid A54T, associated with Diabetes Mellitus, Type 2 (MeSH:D003924) PMID:16249461|REF_RGD_ID:1578457 40907210 FABP2 fatty acid binding protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735842 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 40907210 FABP2 fatty acid binding protein 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:735842 D RGD:9068941 20210122 RGD DNA:polymorphism:CDS:amino acid A54T, in a Brazilian population PMID:16249461|REF_RGD_ID:1578457 40907210 FABP2 fatty acid binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40907210 FABP2 fatty acid binding protein 2 gene DOID:9006599 Hypertriglyceridemia ISO RGD:735842 D RGD:9068941 20210122 RGD DNA:polymorphism:CDS:amino acid A54T, in a normal glucose tolerant population from urban south India PMID:16919542|REF_RGD_ID:1626401 40907210 FABP2 fatty acid binding protein 2 gene DOID:9006599 Hypertriglyceridemia ISO RGD:735842 D RGD:9068941 20210122 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.A54T (human) PMID:10999802|REF_RGD_ID:1300313 40907210 FABP2 fatty acid binding protein 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:735842 D RGD:9068941 20210122 RGD DNA:polymorphism:CDS:amino acid A54T, in a normal glucose tolerant population from urban south India PMID:16919542|REF_RGD_ID:1626401 40907210 FABP2 fatty acid binding protein 2 gene DOID:9007096 Stroke ISO RGD:735842 D RGD:9068941 20210122 RGD DNA:missense mutation:cds:p.A54T (human) PMID:10946885|REF_RGD_ID:1300312 40907210 FABP2 fatty acid binding protein 2 gene DOID:9007692 Insulin Resistance ISO RGD:735842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FATTY ACID-BINDING PROTEIN, INTESTINAL, POLYMORPHISM OF PMID:10946885|PMID:10999802|PMID:12161503|PMID:14666368|PMID:15572430|PMID:7883976|PMID:9253345 40907210 FABP2 fatty acid binding protein 2 gene DOID:9007692 Insulin Resistance no_association ISO RGD:735842 D RGD:9068941 20210122 RGD DNA:polymorphism:CDS:amino acid A54T, in Chilean Aymara and Mapuche ethnic groups PMID:17211557|REF_RGD_ID:1626407 40907210 FABP2 fatty acid binding protein 2 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:735842 D RGD:9068941 20210122 RGD DNA:polymorphism:CDS:amino acid A54T, in a population from urban south India PMID:16919542|REF_RGD_ID:1626401 40907210 FABP2 fatty acid binding protein 2 gene DOID:9970 obesity ISO RGD:735842 D RGD:9068941 20210122 RGD DNA:polymorphism:CDS:p.A54T (human) PMID:14981227|REF_RGD_ID:1626400 40907210 FABP2 fatty acid binding protein 2 gene DOID:9970 obesity no_association ISO RGD:735842 D RGD:9068941 20210122 RGD DNA:polymorphism:CDS:amino acid A54T, in Chilean Aymara and Mapuche ethnic groups PMID:17211557|REF_RGD_ID:1626407 40907210 FABP2 fatty acid binding protein 2 gene DOID:9970 obesity onset ISO RGD:735842 D RGD:9068941 20210122 RGD Early onset of obesity and resistance to reducing visceral white adipose tissue; DNA:polymorphism:CDS:amino acid A54T, in Japanese women with a BMI > 25 PMID:15620432|REF_RGD_ID:1578458 40907234 LOC119871701 small nucleolar RNA SNORA14 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1602595 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 40907277 NAA50 N-alpha-acetyltransferase 50, NatE catalytic subunit gene DOID:630 genetic disease ISO RGD:1322131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40907279 TAFA3 TAFA chemokine like family member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1617223 D RGD:9068941 20220825 MouseDO 40907279 TAFA3 TAFA chemokine like family member 3 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1354085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 40907279 TAFA3 TAFA chemokine like family member 3 gene DOID:13938 amenorrhea ISO RGD:1354085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 40907295 ARL14 ADP ribosylation factor like GTPase 14 gene DOID:630 genetic disease ISO RGD:1349632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40907317 IFITM5 interferon induced transmembrane protein 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 40907317 IFITM5 interferon induced transmembrane protein 5 gene DOID:0110344 osteogenesis imperfecta type 5 ISO RGD:1606092 D RGD:7240710 20210113 OMIM 40907317 IFITM5 interferon induced transmembrane protein 5 gene DOID:0110344 osteogenesis imperfecta type 5 ISO RGD:1606092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 5 PMID:22863190|PMID:22863195|PMID:23977282|PMID:24478195|PMID:24519609|PMID:25251575|PMID:25741868|PMID:28492532|PMID:29595812|PMID:30985308|PMID:31099171|PMID:31159867|PMID:32383316|PMID:34567078 40907317 IFITM5 interferon induced transmembrane protein 5 gene DOID:0111969 immunodeficiency 39 ISO RGD:1606092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 40907317 IFITM5 interferon induced transmembrane protein 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 40907317 IFITM5 interferon induced transmembrane protein 5 gene DOID:12347 osteogenesis imperfecta ISO RGD:1606092 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:22863190|PMID:22863195|PMID:23977282|PMID:25251575|PMID:25741868|PMID:28492532|PMID:31099171|PMID:31159867|PMID:32383316 40907317 IFITM5 interferon induced transmembrane protein 5 gene DOID:630 genetic disease ISO RGD:1606092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 40907317 IFITM5 interferon induced transmembrane protein 5 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:1606092 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Postmenopausal osteoporosis PMID:22863190|PMID:22863195|PMID:23977282|PMID:25251575|PMID:25741868|PMID:28492532|PMID:31099171|PMID:31159867|PMID:32383316 40907342 GPR27 G protein-coupled receptor 27 gene DOID:1790 malignant mesothelioma ISO RGD:733557 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 40907342 GPR27 G protein-coupled receptor 27 gene DOID:630 genetic disease ISO RGD:733557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40907379 LOC119865621 zinc finger protein-like gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1343277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 40907379 LOC119865621 zinc finger protein-like gene DOID:5419 schizophrenia ISO RGD:1343277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40907379 LOC119865621 zinc finger protein-like gene DOID:630 genetic disease ISO RGD:1343277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:0050589 inflammatory bowel disease ISO RGD:734144 D RGD:9068941 20220825 MouseDO 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:0060250 idiopathic scoliosis ISO RGD:734144 D RGD:9068941 20220825 MouseDO 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:0080600 COVID-19 ISO RGD:1351530 D RGD:9068941 20210122 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:10534 stomach cancer disease_progression ISO RGD:1351530 D RGD:9068941 20210409 RGD mRNA:decreased expression:stomach PMID:15386419|REF_RGD_ID:126775146 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:10608 celiac disease ISO RGD:1351530 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:11054 urinary bladder cancer ISO RGD:1351530 D RGD:9068941 20210122 RGD DNA:promoter:aberrant methylation PMID:16230397|REF_RGD_ID:2302553 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1351530 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:1612 breast cancer ISO RGD:1351530 D RGD:9068941 20210122 RGD DNA:promoter:hypermethylation protein:mislocalization PMID:16818622|REF_RGD_ID:2302554 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1351530 D RGD:9068941 20210122 RGD DNA:hypermethylation, loss of heterozygosity (human) PMID:18475302|REF_RGD_ID:2324956 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:2152 ovary epithelial cancer ISO RGD:1351530 D RGD:9068941 20210122 RGD mRNA:expression:increased PMID:18937968|REF_RGD_ID:2302556 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1351530 D RGD:9068941 20210122 RGD PMID:26175272|REF_RGD_ID:18337279 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:2841 asthma ISO RGD:734144 D RGD:9068941 20220825 MouseDO OMIM:600807 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:2871 endometrial carcinoma ISO RGD:1351530 D RGD:9068941 20210122 RGD DNA:promoter:hypermethylated PMID:18572225|REF_RGD_ID:2302555 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:299 adenocarcinoma ISO RGD:1351530 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1351530 D RGD:9068941 20210122 RGD DNA:promoter:hypermethylation protein:mislocalization PMID:18256927|REF_RGD_ID:2302557 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:3068 glioblastoma ISO RGD:1351530 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:16909125 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1351530 D RGD:9068941 20210409 RGD mRNA:decreased expression:esophagus mucosa PMID:18500170|REF_RGD_ID:126779568 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1351530 D RGD:9068941 20210409 RGD DNA:hypermethylation:promoter PMID:18349282|REF_RGD_ID:13503324 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1351530 D RGD:9068941 20210122 RGD DNA:hypermethylation:promoter PMID:25520863|REF_RGD_ID:13792554 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:4947 cholangiocarcinoma ISO RGD:1351530 D RGD:9068941 20210122 RGD protein:decreased expression:bile duct PMID:19827872|REF_RGD_ID:2324955 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:630 genetic disease ISO RGD:1351530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1351530 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:28458013 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1351530 D RGD:9068941 20210409 RGD mRNA:decreased expression:liver PMID:17094378|REF_RGD_ID:126775147 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:7147 ankylosing spondylitis ISO RGD:1351530 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:21743469 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:8719 in situ carcinoma ISO RGD:1351530 D RGD:9068941 20210122 RGD associated with Biliary Tract Neoplasms; DNA:hypermethylation:promoter PMID:19763613|REF_RGD_ID:2324958 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:8893 psoriasis ISO RGD:1351530 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:23143594 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:1351530 D RGD:9068941 20210122 RGD DNA:hypermethylation:promoter PMID:15471559|REF_RGD_ID:2324957 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1351530 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:18058463 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1351530 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:9002928 Colonic Neoplasms ISO RGD:1351530 D RGD:9068941 20210122 RGD DNA:promoter:hypermethylation PMID:15386381|REF_RGD_ID:2302551 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:9002936 Bile Duct Neoplasms ISO RGD:1351530 D RGD:9068941 20210122 RGD DNA:hypermethylation:promoter PMID:15471559|REF_RGD_ID:2324957 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:9004351 Digestive System Neoplasms ISO RGD:1351530 D RGD:9068941 20210122 RGD DNA:hypermethylation:promoter PMID:15471559|REF_RGD_ID:2324957 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:9005172 Lung Neoplasms ISO RGD:1351530 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1351530 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351530 D RGD:9068941 20210122 RGD DNA:promoter:aberrant methylation PMID:16080503|REF_RGD_ID:2302552 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1351530 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 40907395 RUNX3 RUNX family transcription factor 3 gene DOID:9256 colorectal cancer ISO RGD:1351530 D RGD:9068941 20210409 RGD PMID:25925209|REF_RGD_ID:126779569 40907415 ISL2 ISL LIM homeobox 2 gene DOID:2717 Bloom syndrome ISO RGD:732662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 40907415 ISL2 ISL LIM homeobox 2 gene DOID:5419 schizophrenia ISO RGD:732662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40907415 ISL2 ISL LIM homeobox 2 gene DOID:630 genetic disease ISO RGD:732662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40907415 ISL2 ISL LIM homeobox 2 gene DOID:9256 colorectal cancer ISO RGD:732662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 40907417 LOC119873071 U1 spliceosomal RNA gene DOID:0080600 COVID-19 ISO RGD:1348485 D RGD:9068941 20220922 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 40907464 MOAP1 modulator of apoptosis 1 gene DOID:0080054 achondrogenesis type IA ISO RGD:1316298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 40907597 KCNA7 potassium voltage-gated channel subfamily A member 7 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1320074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 40907597 KCNA7 potassium voltage-gated channel subfamily A member 7 gene DOID:0111076 progressive familial heart block type IB ISO RGD:1320074 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 40907597 KCNA7 potassium voltage-gated channel subfamily A member 7 gene DOID:630 genetic disease ISO RGD:1320074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40907649 YY2 YY2 transcription factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354472 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 40907649 YY2 YY2 transcription factor gene DOID:12849 autistic disorder ISO RGD:1354472 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40907649 YY2 YY2 transcription factor gene DOID:630 genetic disease ISO RGD:1354472 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40907649 YY2 YY2 transcription factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354472 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40907706 TLE5 TLE family member 5, transcriptional modulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40907706 TLE5 TLE family member 5, transcriptional modulator gene DOID:9007102 Myocardial Ischemia ISO RGD:737345 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 40907734 LOC119873790 small nucleolar RNA U83B gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1349705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 40907737 ZFP14 ZFP14 zinc finger protein gene DOID:630 genetic disease ISO RGD:1605971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40907745 EOLA1 endothelium and lymphocyte associated ASCH domain 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 40907745 EOLA1 endothelium and lymphocyte associated ASCH domain 1 gene DOID:12849 autistic disorder ISO RGD:1344025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40907746 LOC119874077 small nucleolar RNA SNORD96 family gene DOID:12849 autistic disorder ISO RGD:1602353 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40907746 LOC119874077 small nucleolar RNA SNORD96 family gene DOID:5419 schizophrenia ISO RGD:1602353 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40907825 LOC119866751 cytochrome b-c1 complex subunit 7 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1323703 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 PMID:12709789|PMID:25446085|PMID:28492532|PMID:28604960 40907825 LOC119866751 cytochrome b-c1 complex subunit 7 gene DOID:0080112 mitochondrial complex III deficiency nuclear type 3 ISO RGD:1323703 D RGD:7240710 20210120 OMIM 40907825 LOC119866751 cytochrome b-c1 complex subunit 7 gene DOID:0080112 mitochondrial complex III deficiency nuclear type 3 ISO RGD:1323703 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 3 PMID:25741868 40907825 LOC119866751 cytochrome b-c1 complex subunit 7 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1323703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:24442880|PMID:28492532 40907825 LOC119866751 cytochrome b-c1 complex subunit 7 gene DOID:1596 depressive disorder ISO RGD:1311971 D RGD:9068941 20210122 RGD PMID:22311638|REF_RGD_ID:13801196 40907825 LOC119866751 cytochrome b-c1 complex subunit 7 gene DOID:630 genetic disease ISO RGD:1323703 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 40907825 LOC119866751 cytochrome b-c1 complex subunit 7 gene DOID:655 inherited metabolic disorder ISO RGD:1323703 D RGD:9068941 20210122 RGD mitochondrial complex III deficiency, OMIM:124000 PMID:12709789|REF_RGD_ID:1599707 40907982 LOC119873100 small nucleolar RNA SNORD113/SNORD114 family gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 40908015 LOC119873833 small nucleolar RNA SNORD43 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1346020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 40908103 NMU neuromedin U gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:68564 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 40908103 NMU neuromedin U gene DOID:630 genetic disease ISO RGD:68564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40908103 NMU neuromedin U gene DOID:9970 obesity susceptibility ISO RGD:68564 D RGD:9068941 20211217 RGD DNA:polymorphisms:cds:p.R165W,p.A19E PMID:16984985|REF_RGD_ID:1642094 40908170 LOC119874304 heterogeneous nuclear ribonucleoprotein A1-like gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1605285 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 40908170 LOC119874304 heterogeneous nuclear ribonucleoprotein A1-like gene DOID:1059 intellectual disability ISO RGD:1605285 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability 40908170 LOC119874304 heterogeneous nuclear ribonucleoprotein A1-like gene DOID:630 genetic disease ISO RGD:1605285 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40908252 LOC119867740 tripartite motif-containing protein 26 gene DOID:11372 megacolon ISO RGD:1346405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 40908252 LOC119867740 tripartite motif-containing protein 26 gene DOID:630 genetic disease ISO RGD:1346405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40908255 LOC119881652 5.8S ribosomal RNA gene DOID:0080600 COVID-19 ISO RGD:12907523 D RGD:9068941 20220602 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 40908279 IFNL3 interferon lambda 3 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1348657 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 40908279 IFNL3 interferon lambda 3 gene DOID:1588 thrombocytopenia treatment ISO RGD:1348657 D RGD:9068941 20220428 RGD associated with Hepatitis C, Chronic;DNA:SNP: :rs8099917(human) PMID:24304453|REF_RGD_ID:11528555 40908279 IFNL3 interferon lambda 3 gene DOID:1883 hepatitis C ISO RGD:1348657 D RGD:7240710 20230505 OMIM 40908279 IFNL3 interferon lambda 3 gene DOID:1883 hepatitis C disease_progression ISO RGD:1348657 D RGD:9068941 20220428 RGD associated with Beta-Thalassemia;DNA:SNPs:enhancers: (rs12979860, rs4803221, rs8099917) (human) PMID:25864220|REF_RGD_ID:11528545 40908279 IFNL3 interferon lambda 3 gene DOID:1883 hepatitis C treatment ISO RGD:1348657 D RGD:9068941 20220428 RGD associated with inherited blood coagulation disease;DNA:SNP:enhancer: (rs12979860) (human) PMID:24522196|REF_RGD_ID:11528544 40908279 IFNL3 interferon lambda 3 gene DOID:2841 asthma ISO RGD:1348657 D RGD:9068941 20220428 CTD CTD Direct Evidence: marker/mechanism PMID:22295096 40908279 IFNL3 interferon lambda 3 gene DOID:2917 cryoglobulinemia severity ISO RGD:1348657 D RGD:9068941 20220428 RGD associated with Hepatitis C, Chronic;DNA:SNP:enhancer: (rs12979860) (human) PMID:24293567|REF_RGD_ID:11528546 40908279 IFNL3 interferon lambda 3 gene DOID:3044 food allergy ISO RGD:1348657 D RGD:9068941 20220428 CTD CTD Direct Evidence: marker/mechanism PMID:22295096 40908279 IFNL3 interferon lambda 3 gene DOID:3310 atopic dermatitis ISO RGD:1348657 D RGD:9068941 20220428 CTD CTD Direct Evidence: marker/mechanism PMID:22295096 40908279 IFNL3 interferon lambda 3 gene DOID:5082 liver cirrhosis treatment ISO RGD:1348657 D RGD:9068941 20220428 RGD associated with Hepatitis C;DNA:SNP: :rs8099917 (human) PMID:23145809|REF_RGD_ID:11528558 40908279 IFNL3 interferon lambda 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1348657 D RGD:9068941 20220428 CTD CTD Direct Evidence: therapeutic PMID:21304406 40908279 IFNL3 interferon lambda 3 gene DOID:630 genetic disease ISO RGD:1348657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40908279 IFNL3 interferon lambda 3 gene DOID:9000548 Drug-induced Anemia severity ISO RGD:1348657 D RGD:9068941 20220428 RGD associated with Hepatitis C, Chronic;DNA:SNP:enhancer: (rs12979860) (human) PMID:26933517|REF_RGD_ID:11528554 40908279 IFNL3 interferon lambda 3 gene DOID:9000998 Brain Injuries ISO RGD:1348657 D RGD:9068941 20220428 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 40908279 IFNL3 interferon lambda 3 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1348657 D RGD:9068941 20220428 RGD DNA:SNP:3' utr: (rs4803217) (human) PMID:28638221|REF_RGD_ID:14398740 40908279 IFNL3 interferon lambda 3 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1348657 D RGD:9068941 20220428 RGD DNA:SNP:enhancer: (rs12979860) (human) PMID:24376784|PMID:25788203|PMID:28186161|REF_RGD_ID:14398733|REF_RGD_ID:40886281|REF_RGD_ID:40886290 40908279 IFNL3 interferon lambda 3 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1348657 D RGD:9068941 20220428 RGD DNA:SNP:enhancer: (rs12979860,rs8099917) (human) PMID:26741362|REF_RGD_ID:11344289 40908279 IFNL3 interferon lambda 3 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1348657 D RGD:9068941 20220428 RGD DNA:SNP:enhancer: (rs8099917) (human) PMID:24355007|REF_RGD_ID:11096670 40908279 IFNL3 interferon lambda 3 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1348657 D RGD:9068941 20220428 RGD associated with Hemoglobinopathies:DNA:missense mutation, enhancer, haplotype:cds, :p.K70R, (rs12979860) (human) PMID:21615377|REF_RGD_ID:11528556 40908279 IFNL3 interferon lambda 3 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:1348657 D RGD:9068941 20220428 RGD DNA:SNP,haplotype:enhancer: (rs12979860,rs8099917) (human) PMID:24646752|REF_RGD_ID:40886292 40908279 IFNL3 interferon lambda 3 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1348657 D RGD:9068941 20220428 RGD DNA:SNP: :rs8099917 (human) PMID:23730840|REF_RGD_ID:10766476 40908279 IFNL3 interferon lambda 3 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1348657 D RGD:9068941 20220428 RGD DNA:SNP:5'utr: (rs12979860) (human) PMID:25283962|REF_RGD_ID:40822824 40908279 IFNL3 interferon lambda 3 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1348657 D RGD:9068941 20220428 RGD DNA:SNP:enhancer: (rs8099917) (human) PMID:27027531|REF_RGD_ID:40886277 40908279 IFNL3 interferon lambda 3 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1348657 D RGD:9068941 20220428 RGD DNA:SNPs:3'utr, enhancer: (rs12980275, rs12979860) (human) PMID:28739427|REF_RGD_ID:40400891 40908279 IFNL3 interferon lambda 3 gene DOID:9005372 Inflammation ISO RGD:1348657 D RGD:9068941 20220428 CTD CTD Direct Evidence: marker/mechanism PMID:28394349 40908279 IFNL3 interferon lambda 3 gene DOID:9006697 Congenital Hepatic Fibrosis ISO RGD:1348657 D RGD:9068941 20220428 CTD CTD Direct Evidence: marker/mechanism PMID:28394349 40908279 IFNL3 interferon lambda 3 gene DOID:9007996 End Stage Liver Disease treatment ISO RGD:1348657 D RGD:9068941 20220428 RGD DNA:SNPs:5'utr: (rs12979860, rs8099917) (human) PMID:25130512|REF_RGD_ID:40400912 40908279 IFNL3 interferon lambda 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348657 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 40908300 EFNA2 ephrin A2 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1314277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 40908300 EFNA2 ephrin A2 gene DOID:5339 cyclic hematopoiesis ISO RGD:1314277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 40908300 EFNA2 ephrin A2 gene DOID:630 genetic disease ISO RGD:1314277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40908359 LOC119871367 small nucleolar RNA U109 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40908369 DNASE1L2 deoxyribonuclease 1 like 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1318821 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 40908369 DNASE1L2 deoxyribonuclease 1 like 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1318821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 40908369 DNASE1L2 deoxyribonuclease 1 like 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1318821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 40908369 DNASE1L2 deoxyribonuclease 1 like 2 gene DOID:1826 epilepsy ISO RGD:1318821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 40908369 DNASE1L2 deoxyribonuclease 1 like 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 40908369 DNASE1L2 deoxyribonuclease 1 like 2 gene DOID:2871 endometrial carcinoma ISO RGD:1318821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 40908369 DNASE1L2 deoxyribonuclease 1 like 2 gene DOID:630 genetic disease ISO RGD:1318821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40908369 DNASE1L2 deoxyribonuclease 1 like 2 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1318821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 40908369 DNASE1L2 deoxyribonuclease 1 like 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318821 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 40908481 TENM3 teneurin transmembrane protein 3 gene DOID:0080820 occupational asthma ISO RGD:1315371 D RGD:9068941 20210226 CTD CTD Direct Evidence: marker/mechanism PMID:25918132 40908481 TENM3 teneurin transmembrane protein 3 gene DOID:2661 myoepithelioma ISO RGD:1315371 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 40908481 TENM3 teneurin transmembrane protein 3 gene DOID:630 genetic disease ISO RGD:1315371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 40908481 TENM3 teneurin transmembrane protein 3 gene DOID:9001920 Isolated Microphthalmia with Coloboma 9 ISO RGD:1315371 D RGD:7240710 20210218 OMIM 40908481 TENM3 teneurin transmembrane protein 3 gene DOID:9001920 Isolated Microphthalmia with Coloboma 9 ISO RGD:1315371 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 15 | ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 9 PMID:22766609|PMID:25741868|PMID:27103084|PMID:28492532|PMID:29753094|PMID:30513139|PMID:32799327|PMID:33456446 40908481 TENM3 teneurin transmembrane protein 3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1315371 D RGD:9068941 20210226 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 40908520 LOC119866649 small nucleolar RNA SNORA74 gene DOID:5419 schizophrenia ISO RGD:12738291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40908534 LOC119867578 small nucleolar RNA SNORA81 gene DOID:0060575 3MC syndrome 1 ISO RGD:1602550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 40908543 LOC119866500 small Cajal body-specific RNA 11 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1602760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 40908626 SMCR8 SMCR8-C9orf72 complex subunit gene DOID:0050777 Joubert syndrome ISO RGD:1345463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 40908626 SMCR8 SMCR8-C9orf72 complex subunit gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1345463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 40908626 SMCR8 SMCR8-C9orf72 complex subunit gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1345463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 40908626 SMCR8 SMCR8-C9orf72 complex subunit gene DOID:12849 autistic disorder ISO RGD:1345463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40908626 SMCR8 SMCR8-C9orf72 complex subunit gene DOID:630 genetic disease ISO RGD:1345463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40908626 SMCR8 SMCR8-C9orf72 complex subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40908707 EMX1 empty spiracles homeobox 1 gene DOID:0050473 Alstrom syndrome ISO RGD:1345106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 40908707 EMX1 empty spiracles homeobox 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1345106 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 40908707 EMX1 empty spiracles homeobox 1 gene DOID:543 dystonia ISO RGD:1345106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 40908707 EMX1 empty spiracles homeobox 1 gene DOID:630 genetic disease ISO RGD:1345106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40908707 EMX1 empty spiracles homeobox 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1345106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 40908732 LOC119873087 small nucleolar RNA SNORD113/SNORD114 family gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 40908733 NSMCE3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1319419 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 40908733 NSMCE3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:1059 intellectual disability ISO RGD:1319419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 40908733 NSMCE3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:12849 autistic disorder ISO RGD:1319419 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 40908733 NSMCE3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:1932 Angelman syndrome ISO RGD:1319419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome 40908733 NSMCE3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:5419 schizophrenia ISO RGD:1319419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40908733 NSMCE3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:630 genetic disease ISO RGD:1319419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 40908733 NSMCE3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:9001610 Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome ISO RGD:1319419 D RGD:7240710 20210217 OMIM 40908733 NSMCE3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:9001610 Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome ISO RGD:1319419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung disease, immunodeficiency, and chromosome breakage syndrome PMID:20864041|PMID:25741868|PMID:27427983|PMID:28492532 40908931 PLEKHF1 pleckstrin homology and FYVE domain containing 1 gene DOID:630 genetic disease ISO RGD:1321508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40908931 PLEKHF1 pleckstrin homology and FYVE domain containing 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1321508 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 40908947 CITED4 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1354399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 40908947 CITED4 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 4 gene DOID:630 genetic disease ISO RGD:1354399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40909002 KIAA1586 KIAA1586 ortholog gene DOID:5419 schizophrenia ISO RGD:1343071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40909002 KIAA1586 KIAA1586 ortholog gene DOID:630 genetic disease ISO RGD:1343071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40909028 SAA1 serum amyloid A1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1317420 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 40909028 SAA1 serum amyloid A1 gene DOID:1059 intellectual disability ISO RGD:1317420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 40909028 SAA1 serum amyloid A1 gene DOID:2773 contact dermatitis ISO RGD:1317420 D RGD:9068941 20211224 CTD CTD Direct Evidence: marker/mechanism PMID:15944321 40909028 SAA1 serum amyloid A1 gene DOID:630 genetic disease ISO RGD:1317420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40909028 SAA1 serum amyloid A1 gene DOID:9000371 influenza A ISO RGD:1317420 D RGD:9068941 20211224 RGD protein:increased expression:blood plasma (human) PMID:24888898|REF_RGD_ID:40903071 40909028 SAA1 serum amyloid A1 gene DOID:9002457 Experimental Arthritis ISO RGD:1317420 D RGD:9068941 20211224 CTD CTD Direct Evidence: marker/mechanism PMID:15944321 40909028 SAA1 serum amyloid A1 gene DOID:9120 amyloidosis ISO RGD:1317420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Serum amyloid a variant PMID:1546977|PMID:1764061|PMID:28492532|PMID:7655463 40909038 MSANTD3 Myb/SANT DNA binding domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1603187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 40909038 MSANTD3 Myb/SANT DNA binding domain containing 3 gene DOID:630 genetic disease ISO RGD:1603187 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40909043 NXNL2 nucleoredoxin like 2 gene DOID:630 genetic disease ISO RGD:1351751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40909091 LOC119877135 metallothionein-2-like gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1604411 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:28492532 40909091 LOC119877135 metallothionein-2-like gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1604411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 40909091 LOC119877135 metallothionein-2-like gene DOID:0110428 dilated cardiomyopathy 1AA ISO RGD:1604411 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:28492532 40909091 LOC119877135 metallothionein-2-like gene DOID:1540 parathyroid carcinoma ISO RGD:1604411 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 40909091 LOC119877135 metallothionein-2-like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604411 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 40909113 LOC119873111 small nucleolar RNA SNORD113/SNORD114 family gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 40909191 KRBOX4 KRAB box domain containing 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1601992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 40909191 KRBOX4 KRAB box domain containing 4 gene DOID:12849 autistic disorder ISO RGD:1601992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40909191 KRBOX4 KRAB box domain containing 4 gene DOID:630 genetic disease ISO RGD:1601992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40909191 KRBOX4 KRAB box domain containing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40909191 KRBOX4 KRAB box domain containing 4 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1601992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 40909196 LOC119868801 immunoglobulin lambda variable 3-9-like gene DOID:0080600 COVID-19 ISO RGD:1353004 D RGD:9068941 20211217 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 40909196 LOC119868801 immunoglobulin lambda variable 3-9-like gene DOID:5419 schizophrenia ISO RGD:1353004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40909210 RNF150 ring finger protein 150 gene DOID:630 genetic disease ISO RGD:1322589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:1349130 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:22155737 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:0050827 rheumatic heart disease ISO RGD:621455 D RGD:9068941 20230202 RGD mRNA, protein:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:0080538 Sweeney-Cox syndrome ISO RGD:1349130 D RGD:7240710 20210113 OMIM 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:0080538 Sweeney-Cox syndrome ISO RGD:1349130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: SWEENEY-COX SYNDROME | ClinVar Annotator: match by term: Sweeney-Cox syndrome PMID:10649491|PMID:15923834|PMID:18391498|PMID:21876555|PMID:25271085|PMID:25741868|PMID:27884935|PMID:28369379|PMID:28492532|PMID:29304373|PMID:30450715|PMID:31754721|PMID:8988166|PMID:9259286 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:12960 acrocephalosyndactylia ISO RGD:1349130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly PMID:10094188|PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11748846|PMID:11754069|PMID:11977182|PMID:11992718|PMID:12116251|PMID:1240778|PMID:12791045|PMID:14513358|PMID:15923834|PMID:16251895|PMID:16838304|PMID:17693524|PMID:18391498|PMID:19373776|PMID:19483581|PMID:19755431|PMID:19952666|PMID:20184424|PMID:20643727|PMID:21520333|PMID:21876555|PMID:22382802|PMID:22544111|PMID:22982246|PMID:24127277|PMID:25271085|PMID:25741868|PMID:26114524|PMID:28369379|PMID:28492532|PMID:29037998|PMID:29304373|PMID:30450715|PMID:30651579|PMID:31754721|PMID:31837199|PMID:33547006|PMID:33937142|PMID:8968762|PMID:8988166|PMID:8988167|PMID:9259286|PMID:9585583|PMID:9792856 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:14768 Saethre-Chotzen syndrome ISO RGD:1349130 D RGD:7240710 20210113 OMIM 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:14768 Saethre-Chotzen syndrome ISO RGD:1349130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ACS III | ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome PMID:10094188|PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11748846|PMID:11754069|PMID:11854168|PMID:11977182|PMID:11992718|PMID:12116251|PMID:1240778|PMID:12791045|PMID:14513358|PMID:15099347|PMID:15923834|PMID:16251895|PMID:16838304|PMID:17651129|PMID:17693524|PMID:18391498|PMID:19373776|PMID:19483581|PMID:19755431|PMID:19952666|PMID:20184424|PMID:20643727|PMID:21520333|PMID:21876555|PMID:22382802|PMID:22544111|PMID:22982246|PMID:22995991|PMID:23527594|PMID:24127277|PMID:25271085|PMID:25741868|PMID:25741869|PMID:26114524|PMID:26416026|PMID:28369379|PMID:28492532|PMID:28617965|PMID:29037998|PMID:29304373|PMID:29597095|PMID:30450715|PMID:30651579|PMID:31754721|PMID:31837199|PMID:33547006|PMID:33937142|PMID:8968762|PMID:8988166|PMID:8988167|PMID:9259286|PMID:9585583|PMID:9792856|PMID:9934984 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:1612 breast cancer disease_progression ISO RGD:1605727 D RGD:9068941 20220407 RGD PMID:27524420|REF_RGD_ID:151665821 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:2340 craniosynostosis ISO RGD:1349130 D RGD:7240710 20210113 OMIM 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:2340 craniosynostosis ISO RGD:1349130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2 related craniosynostosis PMID:10094188|PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11748846|PMID:11754069|PMID:11977182|PMID:11992718|PMID:12116251|PMID:1240778|PMID:12791045|PMID:14513358|PMID:15923834|PMID:16251895|PMID:16838304|PMID:17343269|PMID:17693524|PMID:18391498|PMID:19373776|PMID:19483581|PMID:19755431|PMID:20643727|PMID:21520333|PMID:22382802|PMID:22982246|PMID:24127277|PMID:25271085|PMID:25741868|PMID:26114524|PMID:28492532|PMID:30651579|PMID:31754721|PMID:31837199|PMID:8968762|PMID:8988166|PMID:8988167|PMID:9259286|PMID:9585583|PMID:9792856 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:2340 craniosynostosis ISO RGD:1349130 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2 related craniosynostosis PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11754069|PMID:11977182|PMID:12116251|PMID:1240778|PMID:12791045|PMID:17343269|PMID:19373776|PMID:20643727|PMID:22382802|PMID:24127277|PMID:25271085|PMID:25741868|PMID:26114524|PMID:28492532|PMID:31754721|PMID:31837199|PMID:8968762|PMID:8988167|PMID:9585583|PMID:9792856 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:2340 craniosynostosis ISO RGD:1349130 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11754069|PMID:11977182|PMID:12116251|PMID:1240778|PMID:12791045|PMID:15923834|PMID:17343269|PMID:18391498|PMID:19373776|PMID:20643727|PMID:21876555|PMID:22382802|PMID:24127277|PMID:25271085|PMID:25741868|PMID:26114524|PMID:28369379|PMID:28492532|PMID:30450715|PMID:31754721|PMID:31837199|PMID:8968762|PMID:8988167|PMID:9259286|PMID:9585583|PMID:9792856 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:2340 craniosynostosis ISO RGD:1349130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:10094188|PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11748846|PMID:11754069|PMID:11977182|PMID:11992718|PMID:12116251|PMID:1240778|PMID:12791045|PMID:14513358|PMID:15923834|PMID:16251895|PMID:16838304|PMID:17343269|PMID:17693524|PMID:18391498|PMID:19373776|PMID:19483581|PMID:19755431|PMID:19952666|PMID:20184424|PMID:20643727|PMID:21520333|PMID:21876555|PMID:22382802|PMID:22544111|PMID:22982246|PMID:24127277|PMID:25271085|PMID:25741868|PMID:26114524|PMID:28369379|PMID:28492532|PMID:29037998|PMID:30450715|PMID:30651579|PMID:31754721|PMID:31837199|PMID:33547006|PMID:33937142|PMID:8968762|PMID:8988166|PMID:8988167|PMID:9259286|PMID:9585583|PMID:9792856 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:2340 craniosynostosis ISO RGD:1349130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 PMID:10094188|PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11748846|PMID:11754069|PMID:11977182|PMID:11992718|PMID:12116251|PMID:1240778|PMID:12791045|PMID:14513358|PMID:15923834|PMID:16251895|PMID:16838304|PMID:17343269|PMID:17693524|PMID:18391498|PMID:19373776|PMID:19483581|PMID:19755431|PMID:19952666|PMID:20184424|PMID:20643727|PMID:21520333|PMID:21876555|PMID:22382802|PMID:22544111|PMID:22982246|PMID:24127277|PMID:25271085|PMID:25741868|PMID:26114524|PMID:28369379|PMID:28492532|PMID:29037998|PMID:29304373|PMID:30450715|PMID:30651579|PMID:31754721|PMID:31837199|PMID:33547006|PMID:33937142|PMID:8968762|PMID:8988166|PMID:8988167|PMID:9259286|PMID:9585583|PMID:9792856 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:3393 coronary artery disease ISO RGD:1349130 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:3459 breast carcinoma exacerbates ISO RGD:1349130 D RGD:9068941 20220407 RGD PMID:27524420|REF_RGD_ID:151665821 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1349130 D RGD:9068941 20210115 RGD mRNA:increased expression:lung PMID:19893041|REF_RGD_ID:5131599 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:630 genetic disease ISO RGD:1349130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11248247|PMID:11854168|PMID:15099347|PMID:16251895|PMID:19952666|PMID:22995991|PMID:23527594|PMID:25741868|PMID:28492532|PMID:29304373|PMID:9259286 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:6432 pulmonary hypertension treatment ISO RGD:621455 D RGD:9068941 20210115 RGD PMID:25593290|REF_RGD_ID:38500244 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1349130 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:19806464 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349130 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:19806464 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:9001080 Robinow Sorauf Syndrome ISO RGD:1349130 D RGD:7240710 20210113 OMIM 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:9001080 Robinow Sorauf Syndrome ISO RGD:1349130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acrocephalosyndactyly, Robinow-Sorauf type | ClinVar Annotator: match by term: Robinow-Sorauf syndrome PMID:10465122|PMID:10749989|PMID:1240778|PMID:12791045|PMID:16251895|PMID:18391498|PMID:25741868|PMID:28492532 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1349130 D RGD:9068941 20210115 RGD mRNA, protein:increased expression: pulmonary artery,lung: PMID:25593290|REF_RGD_ID:38500244 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:9002862 Craniosynostosis 3 ISO RGD:1349130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronal craniosynostosis 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1349130 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:22155737 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:9004771 Vascular Remodeling ISO RGD:621455 D RGD:9068941 20210115 RGD protein:increased expression:lung PMID:25593290|REF_RGD_ID:38500244 40909211 TWIST1 twist family bHLH transcription factor 1 gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:621455 D RGD:9068941 20210115 RGD PMID:25593290|REF_RGD_ID:38500244 40909273 RPRM reprimo, TP53 dependent G2 arrest mediator homolog gene DOID:630 genetic disease ISO RGD:1350669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40909273 RPRM reprimo, TP53 dependent G2 arrest mediator homolog gene DOID:9000117 Esophageal Neoplasms ISO RGD:1350669 D RGD:9068941 20210129 CTD CTD Direct Evidence: marker/mechanism PMID:17121882 40909273 RPRM reprimo, TP53 dependent G2 arrest mediator homolog gene DOID:9206 Barrett's esophagus ISO RGD:1350669 D RGD:9068941 20210129 CTD CTD Direct Evidence: marker/mechanism PMID:17121882 40909394 SOX21 SRY-box transcription factor 21 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1312334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 40909394 SOX21 SRY-box transcription factor 21 gene DOID:630 genetic disease ISO RGD:1312334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40909394 SOX21 SRY-box transcription factor 21 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1312334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 40909402 LOC119871425 zinc finger protein 33B-like gene DOID:630 genetic disease ISO RGD:1347257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 40909450 LOC119866289 small nucleolar RNA SNORA77 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:12738285 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 40909450 LOC119866289 small nucleolar RNA SNORA77 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:12738285 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 40909450 LOC119866289 small nucleolar RNA SNORA77 gene DOID:11198 DiGeorge syndrome ISO RGD:12738285 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome 40909450 LOC119866289 small nucleolar RNA SNORA77 gene DOID:12583 velocardiofacial syndrome ISO RGD:12738285 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 40909450 LOC119866289 small nucleolar RNA SNORA77 gene DOID:12849 autistic disorder ISO RGD:12738285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40909450 LOC119866289 small nucleolar RNA SNORA77 gene DOID:5419 schizophrenia ISO RGD:12738285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40909450 LOC119866289 small nucleolar RNA SNORA77 gene DOID:9007661 Dwarfism ISO RGD:12738285 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 40909514 LRRC34 leucine rich repeat containing 34 gene DOID:0050777 Joubert syndrome ISO RGD:1604227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 40909514 LRRC34 leucine rich repeat containing 34 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1604227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 40909514 LRRC34 leucine rich repeat containing 34 gene DOID:1062 Fanconi syndrome ISO RGD:1604227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 40909514 LRRC34 leucine rich repeat containing 34 gene DOID:630 genetic disease ISO RGD:1604227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40909647 BHLHE22 basic helix-loop-helix family member e22 gene DOID:630 genetic disease ISO RGD:1313486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40909653 LOC119873110 small nucleolar RNA SNORD113/SNORD114 family gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 40909681 LOC119867567 small nucleolar RNA SNORA63 gene DOID:0111546 Currarino syndrome ISO RGD:12738358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 40909707 NSMCE4A NSE4 homolog A, SMC5-SMC6 complex component gene DOID:2340 craniosynostosis ISO RGD:1319136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 40909707 NSMCE4A NSE4 homolog A, SMC5-SMC6 complex component gene DOID:630 genetic disease ISO RGD:1319136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40909713 TUSC1 tumor suppressor candidate 1 gene DOID:630 genetic disease ISO RGD:1606109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40909714 GJE1 gap junction protein epsilon 1 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:2302326 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 40909714 GJE1 gap junction protein epsilon 1 gene DOID:574 peripheral nervous system disease ISO RGD:2302326 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:21228734 40909725 LOC119873078 small nucleolar RNA SNORD113/SNORD114 family gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602522 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 40909756 SCRT1 scratch family transcriptional repressor 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1314736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 40909756 SCRT1 scratch family transcriptional repressor 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1314736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 40909756 SCRT1 scratch family transcriptional repressor 1 gene DOID:4621 holoprosencephaly ISO RGD:1314736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 40909756 SCRT1 scratch family transcriptional repressor 1 gene DOID:630 genetic disease ISO RGD:1314736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40909788 LOC119869220 leucine-rich repeat-containing protein 37A3-like gene DOID:1969 cerebral palsy ISO RGD:1606474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 40909788 LOC119869220 leucine-rich repeat-containing protein 37A3-like gene DOID:630 genetic disease ISO RGD:1606474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40909839 DROSHA drosha ribonuclease III gene DOID:10485 esophageal atresia ISO RGD:1605687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 40909839 DROSHA drosha ribonuclease III gene DOID:12336 male infertility ISO RGD:1605687 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:22381205 40909839 DROSHA drosha ribonuclease III gene DOID:2154 nephroblastoma ISO RGD:1605687 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 40909839 DROSHA drosha ribonuclease III gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 40909839 DROSHA drosha ribonuclease III gene DOID:630 genetic disease ISO RGD:1605687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40909839 DROSHA drosha ribonuclease III gene DOID:687 hepatoblastoma ISO RGD:1605687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 40909839 DROSHA drosha ribonuclease III gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40909892 PRDM12 PR/SET domain 12 gene DOID:0070153 hereditary sensory and autonomic neuropathy type 8 ISO RGD:1351660 D RGD:7240710 20210114 OMIM 40909892 PRDM12 PR/SET domain 12 gene DOID:0070153 hereditary sensory and autonomic neuropathy type 8 ISO RGD:1351660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HSAN VIII | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type VIII PMID:17576681|PMID:25741868|PMID:25891934|PMID:26005867|PMID:28492532|PMID:32409124|PMID:32828702|PMID:33884296|PMID:9536098 40909892 PRDM12 PR/SET domain 12 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1351660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 40909892 PRDM12 PR/SET domain 12 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1351660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 40909892 PRDM12 PR/SET domain 12 gene DOID:630 genetic disease ISO RGD:1351660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 40909892 PRDM12 PR/SET domain 12 gene DOID:9008482 Congenital Pain Insensitivity ISO RGD:1351660 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:26005867 40909892 PRDM12 PR/SET domain 12 gene DOID:9273 citrullinemia ISO RGD:1351660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:28492532 40909930 DGCR8 DGCR8 microprocessor complex subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 40909930 DGCR8 DGCR8 microprocessor complex subunit gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1314941 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 40909930 DGCR8 DGCR8 microprocessor complex subunit gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1314941 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 40909930 DGCR8 DGCR8 microprocessor complex subunit gene DOID:1059 intellectual disability ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 40909930 DGCR8 DGCR8 microprocessor complex subunit gene DOID:11198 DiGeorge syndrome ISO RGD:1314941 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 40909930 DGCR8 DGCR8 microprocessor complex subunit gene DOID:11372 megacolon ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 40909930 DGCR8 DGCR8 microprocessor complex subunit gene DOID:12583 velocardiofacial syndrome ISO RGD:1314941 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 40909930 DGCR8 DGCR8 microprocessor complex subunit gene DOID:12849 autistic disorder ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40909930 DGCR8 DGCR8 microprocessor complex subunit gene DOID:150 disease of mental health ISO RGD:1314941 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:18469815 40909930 DGCR8 DGCR8 microprocessor complex subunit gene DOID:1826 epilepsy ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 40909930 DGCR8 DGCR8 microprocessor complex subunit gene DOID:2154 nephroblastoma ISO RGD:1314941 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 40909930 DGCR8 DGCR8 microprocessor complex subunit gene DOID:2213 hemorrhagic disease ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 40909930 DGCR8 DGCR8 microprocessor complex subunit gene DOID:5419 schizophrenia ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40909930 DGCR8 DGCR8 microprocessor complex subunit gene DOID:612 primary immunodeficiency disease ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 40909930 DGCR8 DGCR8 microprocessor complex subunit gene DOID:630 genetic disease ISO RGD:1314941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40909930 DGCR8 DGCR8 microprocessor complex subunit gene DOID:9003871 Venous Thrombosis ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 40909930 DGCR8 DGCR8 microprocessor complex subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40909930 DGCR8 DGCR8 microprocessor complex subunit gene DOID:9007661 Dwarfism ISO RGD:1314941 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 40909940 LOC119870824 spermatogenesis-associated protein 31D4-like gene DOID:0080942 anauxetic dysplasia ISO RGD:5487895 D RGD:8554872 20230207 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 40909951 CSTF2T cleavage stimulation factor subunit 2 tau variant gene DOID:630 genetic disease ISO RGD:1320690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40909951 CSTF2T cleavage stimulation factor subunit 2 tau variant gene DOID:9003536 Familial Thoracic Aortic Aneurysm 8 ISO RGD:1320690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 PMID:25640679|PMID:28492532 40909953 NANOS3 nanos C2HC-type zinc finger 3 gene DOID:630 genetic disease ISO RGD:1315421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40910007 LOC119871686 U6 spliceosomal RNA gene DOID:9005539 Familial Prostate Cancer ISO RGD:10400296 D RGD:9068941 20211224 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 40910022 LY6K lymphocyte antigen 6 family member K gene DOID:630 genetic disease ISO RGD:1345514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40910048 LOC119868667 small nucleolar RNA SNORA11 gene DOID:12849 autistic disorder ISO RGD:1642113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40910060 ZSCAN12 zinc finger and SCAN domain containing 12 gene DOID:11372 megacolon ISO RGD:1346257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 40910060 ZSCAN12 zinc finger and SCAN domain containing 12 gene DOID:630 genetic disease ISO RGD:1346257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40910067 FAM43B family with sequence similarity 43 member B gene DOID:0060369 Parkinson's disease 6 ISO RGD:1346194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 40910067 FAM43B family with sequence similarity 43 member B gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1346194 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 40910067 FAM43B family with sequence similarity 43 member B gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1346194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 40910067 FAM43B family with sequence similarity 43 member B gene DOID:630 genetic disease ISO RGD:1346194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40910067 FAM43B family with sequence similarity 43 member B gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1346194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 40910085 ABHD16B abhydrolase domain containing 16B gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 40910085 ABHD16B abhydrolase domain containing 16B gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1320221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 40910085 ABHD16B abhydrolase domain containing 16B gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1320221 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 40910085 ABHD16B abhydrolase domain containing 16B gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1320221 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 40910085 ABHD16B abhydrolase domain containing 16B gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 40910085 ABHD16B abhydrolase domain containing 16B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1320221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 40910085 ABHD16B abhydrolase domain containing 16B gene DOID:630 genetic disease ISO RGD:1320221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40910091 LOC119880044 U1 spliceosomal RNA gene DOID:0080600 COVID-19 ISO RGD:1347698 D RGD:9068941 20220915 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 40910291 RLN3 relaxin 3 gene DOID:630 genetic disease ISO RGD:1345239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40910291 RLN3 relaxin 3 gene DOID:9002221 Hyperplasia ISO RGD:1345239 D RGD:9068941 20210115 CTD CTD Direct Evidence: therapeutic PMID:16112403 40910291 RLN3 relaxin 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:1345239 D RGD:9068941 20210115 CTD CTD Direct Evidence: therapeutic PMID:16112403 40910373 ARMCX5 armadillo repeat containing X-linked 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 40910373 ARMCX5 armadillo repeat containing X-linked 5 gene DOID:12849 autistic disorder ISO RGD:1350791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40910373 ARMCX5 armadillo repeat containing X-linked 5 gene DOID:630 genetic disease ISO RGD:1350791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40910397 POU5F1 POU class 5 homeobox 1 gene DOID:0050553 JMP syndrome ISO RGD:1350605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 40910397 POU5F1 POU class 5 homeobox 1 gene DOID:11372 megacolon ISO RGD:1350605 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 40910397 POU5F1 POU class 5 homeobox 1 gene DOID:1682 congenital heart disease ISO RGD:1350605 D RGD:9068941 20220922 CTD CTD Direct Evidence: marker/mechanism PMID:26507003 40910397 POU5F1 POU class 5 homeobox 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1350605 D RGD:9068941 20220922 RGD mRNA, protein:increased expression:urinary bladder PMID:17205510|REF_RGD_ID:2292435 40910397 POU5F1 POU class 5 homeobox 1 gene DOID:3308 embryonal carcinoma ISO RGD:1350605 D RGD:9068941 20220922 RGD PMID:18045648|REF_RGD_ID:2292431 40910397 POU5F1 POU class 5 homeobox 1 gene DOID:3308 embryonal carcinoma ISO RGD:1350605 D RGD:9068941 20220922 RGD DNA:hypomethylation:promoter PMID:17549357|REF_RGD_ID:2292433 40910397 POU5F1 POU class 5 homeobox 1 gene DOID:3590 gestational trophoblastic neoplasm ISO RGD:1350605 D RGD:9068941 20220922 CTD CTD Direct Evidence: marker/mechanism PMID:18440631 40910397 POU5F1 POU class 5 homeobox 1 gene DOID:4440 seminoma ISO RGD:1350605 D RGD:9068941 20220922 RGD DNA:hypomethylation:promoter PMID:17549357|REF_RGD_ID:2292433 40910397 POU5F1 POU class 5 homeobox 1 gene DOID:4440 seminoma ISO RGD:1350605 D RGD:9068941 20220922 RGD mRNA, protein:increased expression:testis PMID:17785371|REF_RGD_ID:2292432 40910397 POU5F1 POU class 5 homeobox 1 gene DOID:4440 seminoma ISO RGD:1350605 D RGD:9068941 20220922 RGD protein:increased expression:chest PMID:18162782|REF_RGD_ID:2292429 40910397 POU5F1 POU class 5 homeobox 1 gene DOID:4441 dysgerminoma ISO RGD:1350605 D RGD:9068941 20220922 RGD PMID:15371950|REF_RGD_ID:2292443 40910397 POU5F1 POU class 5 homeobox 1 gene DOID:630 genetic disease ISO RGD:1350605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40910397 POU5F1 POU class 5 homeobox 1 gene DOID:670 amphetamine abuse ISO RGD:1350605 D RGD:9068941 20220922 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 40910397 POU5F1 POU class 5 homeobox 1 gene DOID:8719 in situ carcinoma ISO RGD:1350605 D RGD:9068941 20220922 RGD associated with Testicular Neoplasms;protein:increased expression:semen PMID:17996359|REF_RGD_ID:2292428 40910397 POU5F1 POU class 5 homeobox 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1350605 D RGD:9068941 20220922 RGD associated with Seminoma; associated with Carcinoma, Embryonal PMID:15386301|REF_RGD_ID:2292442 40910397 POU5F1 POU class 5 homeobox 1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1350605 D RGD:9068941 20220922 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 40910397 POU5F1 POU class 5 homeobox 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1350605 D RGD:9068941 20220922 RGD PMID:17413979|REF_RGD_ID:2292434 40910404 LOC119863904 zinc finger and SCAN domain-containing protein 21-like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 40910404 LOC119863904 zinc finger and SCAN domain-containing protein 21-like gene DOID:630 genetic disease ISO RGD:1320617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40910463 NEB nebulin gene DOID:0050557 congenital muscular dystrophy ISO RGD:1322432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:25741868|PMID:28492532 40910463 NEB nebulin gene DOID:0070336 arthrogryposis multiplex congenita-6 ISO RGD:1322432 D RGD:7240710 20220209 OMIM 40910463 NEB nebulin gene DOID:0070336 arthrogryposis multiplex congenita-6 ISO RGD:1322432 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 PMID:15221447|PMID:16199547|PMID:17576681|PMID:19232495|PMID:19346529|PMID:21798101|PMID:22183965|PMID:22367672|PMID:23572184|PMID:24033266|PMID:25079567|PMID:25205138|PMID:25205148|PMID:25741868|PMID:25741874|PMID:26403434|PMID:26467025|PMID:26578207|PMID:26841830|PMID:27933661|PMID:28336317|PMID:28492532|PMID:29274205|PMID:32222963|PMID:32721234|PMID:33376055|PMID:9536098 40910463 NEB nebulin gene DOID:0110928 nemaline myopathy 2 ISO RGD:1322432 D RGD:7240710 20220209 OMIM 40910463 NEB nebulin gene DOID:0110928 nemaline myopathy 2 ISO RGD:1322432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:10051637|PMID:10931867|PMID:11309420|PMID:11851340|PMID:11994971|PMID:12207938|PMID:15221447|PMID:15266303|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:18414213|PMID:19232495|PMID:19339519|PMID:19346529|PMID:19763152|PMID:19805734|PMID:19944167|PMID:20307669|PMID:21148390|PMID:21350120|PMID:21520333|PMID:21724397|PMID:21798101|PMID:22183965|PMID:22367672|PMID:22406018|PMID:22941678|PMID:23010307|PMID:23441136|PMID:23443021|PMID:23555315|PMID:23572184|PMID:23715096|PMID:23726790|PMID:23826317|PMID:24033266|PMID:24046450|PMID:24056153|PMID:24725366|PMID:24753607|PMID:24972929|PMID:25079567|PMID:25110572|PMID:25203624|PMID:25205138|PMID:25205148|PMID:25214167|PMID:25296583|PMID:25332755|PMID:25356970|PMID:25473036|PMID:25525159|PMID:25589042|PMID:25589043|PMID:25640679|PMID:25740301|PMID:25741868|PMID:25741869|PMID:26019235|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26562614|PMID:26573135|PMID:26578207|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27066551|PMID:27105866|PMID:27168972|PMID:27357428|PMID:27739254|PMID:27854218|PMID:27884173|PMID:27902461|PMID:27933661|PMID:28131200|PMID:28132693|PMID:28357410|PMID:28391287|PMID:28403181|PMID:28424332|PMID:28492532|PMID:28600779|PMID:28977494|PMID:29070751|PMID:29172004|PMID:29246625|PMID:29274205|PMID:29382405|PMID:29389947|PMID:29644095|PMID:29669168|PMID:29689380|PMID:29754767|PMID:29792937|PMID:29947179|PMID:29961767|PMID:30057997|PMID:30265400|PMID:30467404|PMID:30517146|PMID:30679003|PMID:30859559|PMID:30950222|PMID:31127727|PMID:31230720|PMID:31256874|PMID:31965297|PMID:32062132|PMID:32222963|PMID:32403337|PMID:32721234|PMID:33060286|PMID:33250842|PMID:33442022|PMID:33742171|PMID:34440373|PMID:34782754|PMID:7739042|PMID:9536098 40910463 NEB nebulin gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1322432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 40910463 NEB nebulin gene DOID:3191 nemaline myopathy ISO RGD:1322432 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Dominant | ClinVar Annotator: match by term: Nemaline Myopathy, Recessive | ClinVar Annotator: match by term: Nemaline myopathy PMID:12207938|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:19232495|PMID:19805734|PMID:19944167|PMID:21798101|PMID:22281206|PMID:22367672|PMID:23010307|PMID:23443021|PMID:23572184|PMID:23715096|PMID:24056153|PMID:25079567|PMID:25110572|PMID:25205138|PMID:25205148|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26019235|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27105866|PMID:27168972|PMID:27933661|PMID:28132693|PMID:28424332|PMID:28492532|PMID:28977494|PMID:29246625|PMID:29382405|PMID:29389947|PMID:29644095|PMID:30057997|PMID:30467404|PMID:30859559|PMID:32222963|PMID:32721234|PMID:33742171|PMID:9536098 40910463 NEB nebulin gene DOID:3191 nemaline myopathy ISO RGD:1322432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Recessive | ClinVar Annotator: match by term: Nemaline myopathy PMID:12207938|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:19232495|PMID:19805734|PMID:19944167|PMID:21798101|PMID:22281206|PMID:22367672|PMID:23010307|PMID:23443021|PMID:23572184|PMID:23715096|PMID:24056153|PMID:25079567|PMID:25110572|PMID:25205138|PMID:25205148|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26019235|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27105866|PMID:27168972|PMID:27933661|PMID:28132693|PMID:28424332|PMID:28492532|PMID:28977494|PMID:29246625|PMID:29382405|PMID:29389947|PMID:29644095|PMID:29669168|PMID:30057997|PMID:30467404|PMID:30859559|PMID:31230720|PMID:32222963|PMID:32721234|PMID:33442022|PMID:33742171|PMID:9536098 40910463 NEB nebulin gene DOID:574 peripheral nervous system disease ISO RGD:1322432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 40910463 NEB nebulin gene DOID:630 genetic disease ISO RGD:1322432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19339519|PMID:23726790|PMID:24033266|PMID:24725366|PMID:25205138|PMID:25205148|PMID:25356970|PMID:25741868|PMID:26403434|PMID:26467025|PMID:26562614|PMID:26841830|PMID:28492532|PMID:32222963|PMID:32721234|PMID:9536098 40910463 NEB nebulin gene DOID:870 neuropathy ISO RGD:1322432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 40910463 NEB nebulin gene DOID:9000123 Deglutition Disorders ISO RGD:1322432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysphagia PMID:24056153|PMID:25205138|PMID:25741868|PMID:28492532 40910463 NEB nebulin gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1322432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:25741868|PMID:28492532 40910463 NEB nebulin gene DOID:9008386 Hydrops Fetalis ISO RGD:1322432 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:18330676|PMID:25205138|PMID:25741868|PMID:26036949|PMID:26841830|PMID:28492532 40910463 NEB nebulin gene DOID:9884 muscular dystrophy ISO RGD:1322432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:18414213|PMID:25205138|PMID:25741868|PMID:28492532 40910541 LOC119866814 small nucleolar RNA SNORD87 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1602235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:28492532 40910568 DUXA double homeobox A gene DOID:630 genetic disease ISO RGD:1604882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40910588 SOWAHD sosondowah ankyrin repeat domain family member D gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 40910588 SOWAHD sosondowah ankyrin repeat domain family member D gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1606099 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 40910588 SOWAHD sosondowah ankyrin repeat domain family member D gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1606099 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 40910588 SOWAHD sosondowah ankyrin repeat domain family member D gene DOID:0080600 COVID-19 ISO RGD:1606099 D RGD:9068941 20210115 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 40910588 SOWAHD sosondowah ankyrin repeat domain family member D gene DOID:12849 autistic disorder ISO RGD:1606099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40910588 SOWAHD sosondowah ankyrin repeat domain family member D gene DOID:630 genetic disease ISO RGD:1606099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40910663 DDX53 DEAD-box helicase 53 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 40910663 DDX53 DEAD-box helicase 53 gene DOID:1184 nephrotic syndrome ISO RGD:1604977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:29127259 40910663 DDX53 DEAD-box helicase 53 gene DOID:12849 autistic disorder ISO RGD:1604977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40910663 DDX53 DEAD-box helicase 53 gene DOID:630 genetic disease ISO RGD:1604977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40910663 DDX53 DEAD-box helicase 53 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40910703 TOB1 transducer of ERBB2, 1 gene DOID:289 endometriosis ISO RGD:1352967 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 40910703 TOB1 transducer of ERBB2, 1 gene DOID:630 genetic disease ISO RGD:1352967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40910703 TOB1 transducer of ERBB2, 1 gene DOID:9001341 Chloracne ISO RGD:1352967 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 40910703 TOB1 transducer of ERBB2, 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:1352967 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:12756225 40910806 PVALEF parvalbumin like EF-hand containing gene DOID:630 genetic disease ISO RGD:2304510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40910839 C18H11orf96 chromosome 18 C11orf96 homolog gene DOID:1059 intellectual disability ISO RGD:4108561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 40910885 MALRD1 MAM and LDL receptor class A domain containing 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1346421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder 40910899 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1602218 D RGD:9068941 20210115 RGD PMID:30205384|REF_RGD_ID:18337270 40910899 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1602218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 40910899 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1602218 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 40910899 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1602218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 40910899 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:0080600 COVID-19 ISO RGD:1602218 D RGD:9068941 20210115 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 40910899 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:10283 prostate cancer ISO RGD:1602218 D RGD:9068941 20210115 RGD mRNA, protein:decreased expression:prostate gland PMID:25003983|REF_RGD_ID:18337280 40910899 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1602218 D RGD:9068941 20210115 RGD PMID:31762801|REF_RGD_ID:18337271 40910899 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:10844 Japanese encephalitis ISO RGD:1614375 D RGD:9068941 20210115 RGD PMID:17010311|REF_RGD_ID:18337278 40910899 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:11260 rabies ISO RGD:1614375 D RGD:9068941 20210115 RGD PMID:17010311|REF_RGD_ID:18337278 40910899 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:1574 alcohol use disorder ISO RGD:1614375 D RGD:9068941 20210115 RGD mRNA:increased expression:prefrontal cortex PMID:28714806|REF_RGD_ID:18337277 40910899 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1602218 D RGD:9068941 20210115 RGD PMID:26175272|REF_RGD_ID:18337279 40910899 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:1602218 D RGD:9068941 20210115 RGD PMID:25003983|REF_RGD_ID:18337280 40910899 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1602218 D RGD:9068941 20210115 RGD mRNA:increased expression:thyroid gland PMID:23569218|REF_RGD_ID:18337285 40910899 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:4001 ovarian carcinoma treatment ISO RGD:1602218 D RGD:9068941 20210115 RGD PMID:26910918|REF_RGD_ID:18337281 40910899 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1602218 D RGD:9068941 20210115 RGD PMID:23651211|REF_RGD_ID:18337283 40910899 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1602218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 40910899 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1602218 D RGD:9068941 20210115 RGD associated with colon cancer PMID:22020760|REF_RGD_ID:15097511 40910984 LOC119870572 small Cajal body-specific RNA 21 gene DOID:0080600 COVID-19 ISO RGD:1602775 D RGD:9068941 20211224 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 40910984 LOC119870572 small Cajal body-specific RNA 21 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 40910984 LOC119870572 small Cajal body-specific RNA 21 gene DOID:2729 dyskeratosis congenita ISO RGD:1602775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 40910984 LOC119870572 small Cajal body-specific RNA 21 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1602775 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 40911048 PERCC1 proline and glutamate rich with coiled coil 1 gene DOID:9002198 Diarrhea 11 ISO RGD:14696710 D RGD:7240710 20210113 OMIM 40911048 PERCC1 proline and glutamate rich with coiled coil 1 gene DOID:9002198 Diarrhea 11 ISO RGD:14696710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diarrhea 11, malabsorptive, congenital PMID:31217582 40911055 LOC119873097 small nucleolar RNA SNORD113/SNORD114 family gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602521 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 40911082 ARTN artemin gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1347630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532 40911082 ARTN artemin gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 40911082 ARTN artemin gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1347630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532 40911082 ARTN artemin gene DOID:12689 acoustic neuroma ISO RGD:1347630 D RGD:9068941 20210115 RGD mRNA:increased expression:peripheral nerve: PMID:19937367|REF_RGD_ID:8655552 40911082 ARTN artemin gene DOID:1793 pancreatic cancer ISO RGD:1347630 D RGD:9068941 20210115 RGD PMID:20395845|REF_RGD_ID:2325815 40911082 ARTN artemin gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1347630 D RGD:9068941 20210115 RGD mRNA:increased expression:pancreas PMID:19304517|REF_RGD_ID:2325817 40911082 ARTN artemin gene DOID:3310 atopic dermatitis ISO RGD:1347630 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 40911082 ARTN artemin gene DOID:574 peripheral nervous system disease ISO RGD:621427 D RGD:9068941 20210115 RGD PMID:18344995|PMID:20302919|REF_RGD_ID:2325819|REF_RGD_ID:2325821 40911082 ARTN artemin gene DOID:630 genetic disease ISO RGD:1347630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40911082 ARTN artemin gene DOID:9006202 Pruritus ISO RGD:1347630 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 40911082 ARTN artemin gene DOID:9006205 Animal Disease Models ISO RGD:1347630 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 40911082 ARTN artemin gene DOID:9008939 Breast Neoplasms ISO RGD:1347630 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:20305694 40911084 NFILZ NFIL3 like basic leucine zipper gene DOID:12849 autistic disorder ISO RGD:11569668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40911111 RCL1 RNA terminal phosphate cyclase like 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1313278 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 40911111 RCL1 RNA terminal phosphate cyclase like 1 gene DOID:2468 psychotic disorder ISO RGD:1313278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Psychotic disorder 40911111 RCL1 RNA terminal phosphate cyclase like 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1313278 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 40911111 RCL1 RNA terminal phosphate cyclase like 1 gene DOID:630 genetic disease ISO RGD:1313278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40911111 RCL1 RNA terminal phosphate cyclase like 1 gene DOID:9006205 Animal Disease Models ISO RGD:1313278 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 40911212 LOC119866455 small nucleolar RNA U89 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1602762 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 40911312 PLEKHM1 pleckstrin homology and RUN domain containing M1 gene DOID:0110942 autosomal recessive osteopetrosis 1 ISO RGD:1354234 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 PMID:35342016|PMID:36195244 40911312 PLEKHM1 pleckstrin homology and RUN domain containing M1 gene DOID:0110945 autosomal recessive osteopetrosis 6 ISO RGD:1354234 D RGD:7240710 20210113 OMIM 40911312 PLEKHM1 pleckstrin homology and RUN domain containing M1 gene DOID:0110945 autosomal recessive osteopetrosis 6 ISO RGD:1354234 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 6 PMID:17404618|PMID:25741868 40911312 PLEKHM1 pleckstrin homology and RUN domain containing M1 gene DOID:1059 intellectual disability ISO RGD:1354234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 40911312 PLEKHM1 pleckstrin homology and RUN domain containing M1 gene DOID:4254 osteosclerosis ISO RGD:1354234 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:25741868 40911312 PLEKHM1 pleckstrin homology and RUN domain containing M1 gene DOID:630 genetic disease ISO RGD:1354234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 40911312 PLEKHM1 pleckstrin homology and RUN domain containing M1 gene DOID:9009253 Autosomal Dominant Osteopetrosis 3 ISO RGD:1354234 D RGD:7240710 20210113 OMIM 40911312 PLEKHM1 pleckstrin homology and RUN domain containing M1 gene DOID:9009253 Autosomal Dominant Osteopetrosis 3 ISO RGD:1354234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteopetrosis, autosomal dominant 3 PMID:17997709 40911323 FOXC1 forkhead box C1 gene DOID:0060648 anterior segment dysgenesis ISO RGD:1353830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:28492532|PMID:28513611|PMID:32499604 40911323 FOXC1 forkhead box C1 gene DOID:0080205 CAKUT ISO RGD:1353830 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:28492532|PMID:30143558|PMID:32475988 40911323 FOXC1 forkhead box C1 gene DOID:0080608 anterior segment dysgenesis 3 ISO RGD:1353830 D RGD:7240710 20210120 OMIM 40911323 FOXC1 forkhead box C1 gene DOID:0080608 anterior segment dysgenesis 3 ISO RGD:1353830 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 3 | ClinVar Annotator: match by term: Glaucoma iridogoniodysplasia, familial PMID:11007653|PMID:11170889|PMID:12036988|PMID:19668217|PMID:19793056|PMID:25741868|PMID:28492532|PMID:30143558|PMID:32475988|PMID:32832252|PMID:9620769|PMID:9792859 40911323 FOXC1 forkhead box C1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1620902 D RGD:9068941 20210122 RGD PMID:20976766|REF_RGD_ID:12904052 40911323 FOXC1 forkhead box C1 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:1353830 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:14630904 40911323 FOXC1 forkhead box C1 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1353830 D RGD:7240710 20210120 OMIM 40911323 FOXC1 forkhead box C1 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1353830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: AXENFELD-RIEGER ANOMALY WITH CARDIAC DEFECTS AND/OR SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:10713890|PMID:11170889|PMID:11740218|PMID:11782474|PMID:12592227|PMID:12614756|PMID:14506133|PMID:14578375|PMID:15277473|PMID:16638984|PMID:16936096|PMID:17013732|PMID:17197537|PMID:17210863|PMID:18498376|PMID:19279310|PMID:19513095|PMID:19668217|PMID:19793056|PMID:20881294|PMID:22382802|PMID:22569110|PMID:23239455|PMID:24556684|PMID:24914578|PMID:25741868|PMID:25786029|PMID:25967385|PMID:28432732|PMID:28492532|PMID:28513611|PMID:28979898|PMID:30143558|PMID:30457409|PMID:30653986|PMID:31836490|PMID:32295643|PMID:32475988|PMID:32499604|PMID:32631953|PMID:35882526|PMID:9326342|PMID:9620769|PMID:9792859 40911323 FOXC1 forkhead box C1 gene DOID:1067 open-angle glaucoma ISO RGD:1353830 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:26752265 40911323 FOXC1 forkhead box C1 gene DOID:1068 juvenile glaucoma ISO RGD:1353830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma of childhood PMID:32832252 40911323 FOXC1 forkhead box C1 gene DOID:10908 hydrocephalus ISO RGD:1620902 D RGD:9068941 20210122 RGD PMID:9635428|REF_RGD_ID:8662364 40911323 FOXC1 forkhead box C1 gene DOID:11211 buphthalmos ISO RGD:1620902 D RGD:9068941 20220825 MouseDO OMIM:231300 40911323 FOXC1 forkhead box C1 gene DOID:12271 aniridia ISO RGD:1353830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 40911323 FOXC1 forkhead box C1 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:1353830 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Axenfeld-rieger anomaly with or without cardiac defects and/or sensorineural hearing loss PMID:25741868|PMID:28492532|PMID:30143558|PMID:32475988 40911323 FOXC1 forkhead box C1 gene DOID:1686 glaucoma ISO RGD:1353830 D RGD:9068941 20210122 RGD associated with Axenfeld-Rieger Syndrome;DNA:mutation:cds:p.Q120X(human) PMID:18498376|REF_RGD_ID:12904045 40911323 FOXC1 forkhead box C1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1353830 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:19668217 40911323 FOXC1 forkhead box C1 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1353830 D RGD:9068941 20210122 RGD PMID:21424368|REF_RGD_ID:8662363 40911323 FOXC1 forkhead box C1 gene DOID:6000 congestive heart failure ISO RGD:1353830 D RGD:9068941 20210122 RGD PMID:16952980|REF_RGD_ID:1582564 40911323 FOXC1 forkhead box C1 gene DOID:630 genetic disease ISO RGD:1353830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 40911323 FOXC1 forkhead box C1 gene DOID:6419 tetralogy of Fallot ISO RGD:1353830 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:25093829 40911323 FOXC1 forkhead box C1 gene DOID:9000045 De Hauwere syndrome ISO RGD:1353830 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities PMID:25741868 40911323 FOXC1 forkhead box C1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1353830 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:19668217 40911323 FOXC1 forkhead box C1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353830 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 40911323 FOXC1 forkhead box C1 gene DOID:9003133 Hypertelorism ISO RGD:1353830 D RGD:9068941 20210122 RGD associated with Axenfeld-Rieger Syndrome;DNA:deletion:cds:437-453del17(human) PMID:17653043|REF_RGD_ID:12904051 40911323 FOXC1 forkhead box C1 gene DOID:9003591 Telecanthus ISO RGD:1353830 D RGD:9068941 20210122 RGD associated with Axenfeld-Rieger Syndrome;DNA:deletion:cds:437-453del17(human) PMID:17653043|REF_RGD_ID:12904051 40911323 FOXC1 forkhead box C1 gene DOID:9004538 Hearing Loss ISO RGD:1353830 D RGD:9068941 20210122 RGD associated with Axenfeld-Rieger Syndrome;DNA:deletion:cds:437-453del17(human) PMID:17653043|REF_RGD_ID:12904051 40911323 FOXC1 forkhead box C1 gene DOID:9005059 Hypertelorism and Tetralogy of Fallot ISO RGD:1353830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism and tetralogy of fallot PMID:25741868 40911323 FOXC1 forkhead box C1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1353830 D RGD:9068941 20210122 RGD DNA, mRNA:increased methylation, decreased expression:breast PMID:20056007|REF_RGD_ID:8662367 40911323 FOXC1 forkhead box C1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1353830 D RGD:9068941 20210122 RGD DNA:increased methylation:promoter PMID:20338046|REF_RGD_ID:8662370 40911323 FOXC1 forkhead box C1 gene DOID:987 alopecia ISO RGD:1353830 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Alopecia, androgenetic, 1 40911325 LOC119873113 small nucleolar RNA SNORD113/SNORD114 family gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 40911353 LOC119868752 eukaryotic translation initiation factor 1A, Y-chromosomal gene DOID:12849 autistic disorder ISO RGD:1343052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40911469 SMIM10L2B small integral membrane protein 10 like 2B gene DOID:12849 autistic disorder ISO RGD:2301114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40911535 TMEM200C transmembrane protein 200C gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:3302319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 40911535 TMEM200C transmembrane protein 200C gene DOID:1059 intellectual disability ISO RGD:3302319 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 40911536 LOC119873106 small nucleolar RNA SNORD113/SNORD114 family gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 40911580 SCT secretin gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 40911580 SCT secretin gene DOID:0050729 neutral lipid storage disease ISO RGD:735506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 40911580 SCT secretin gene DOID:0080773 delta beta-thalassemia ISO RGD:735506 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 40911580 SCT secretin gene DOID:0111969 immunodeficiency 39 ISO RGD:735506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 40911580 SCT secretin gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 40911580 SCT secretin gene DOID:11612 polycystic ovary syndrome ISO RGD:735506 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 40911580 SCT secretin gene DOID:12849 autistic disorder ISO RGD:735506 D RGD:9068941 20210115 CTD CTD Direct Evidence: therapeutic PMID:12732234|PMID:15206007|PMID:15272612|PMID:16168596 40911580 SCT secretin gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 40911580 SCT secretin gene DOID:630 genetic disease ISO RGD:735506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40911580 SCT secretin gene DOID:899 choledochal cyst ISO RGD:735506 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 40911580 SCT secretin gene DOID:9002554 Tachycardia ISO RGD:735506 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:2103752 40911580 SCT secretin gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:735506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 40911609 DDO D-aspartate oxidase gene DOID:1876 sexual dysfunction ISO RGD:1314668 D RGD:9068941 20211015 CTD CTD Direct Evidence: marker/mechanism PMID:16525061 40911609 DDO D-aspartate oxidase gene DOID:630 genetic disease ISO RGD:1314668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40911609 DDO D-aspartate oxidase gene DOID:9004657 Weight Gain ISO RGD:1314668 D RGD:9068941 20211015 CTD CTD Direct Evidence: marker/mechanism PMID:16525061 40911609 DDO D-aspartate oxidase gene DOID:9004866 Ataxia ISO RGD:1314668 D RGD:9068941 20211015 CTD CTD Direct Evidence: therapeutic PMID:25979765 40911661 LOC119871365 small nucleolar RNA SNORD108 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1605817 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 40911661 LOC119871365 small nucleolar RNA SNORD108 gene DOID:12849 autistic disorder ISO RGD:1605817 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 40911661 LOC119871365 small nucleolar RNA SNORD108 gene DOID:1932 Angelman syndrome ISO RGD:1605817 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:25099823|PMID:25212744|PMID:28492532 40911661 LOC119871365 small nucleolar RNA SNORD108 gene DOID:5419 schizophrenia ISO RGD:1605817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40911765 SAMD5 sterile alpha motif domain containing 5 gene DOID:630 genetic disease ISO RGD:1353343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40911943 TMEM186 transmembrane protein 186 gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:1604027 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:25738457|PMID:28492532 40911943 TMEM186 transmembrane protein 186 gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:1604027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PMM2-congenital disorder of glycosylation PMID:28492532 40911943 TMEM186 transmembrane protein 186 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1604027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 40911943 TMEM186 transmembrane protein 186 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1604027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 40911943 TMEM186 transmembrane protein 186 gene DOID:5812 MHC class II deficiency ISO RGD:1604027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 40911943 TMEM186 transmembrane protein 186 gene DOID:630 genetic disease ISO RGD:1604027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40912032 LOC119864360 small nucleolar RNA SNORD30 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1349433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 40912032 LOC119864360 small nucleolar RNA SNORD30 gene DOID:1059 intellectual disability ISO RGD:1349433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 40912049 C34H3orf80 chromosome 34 C3orf80 homolog gene DOID:630 genetic disease ISO RGD:5486719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40912077 LOC119869668 small nucleolar RNA SNORA5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 40912085 LRRC53 leucine rich repeat containing 53 gene DOID:630 genetic disease ISO RGD:2292704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 40912085 LRRC53 leucine rich repeat containing 53 gene DOID:9000652 Cardiac Conduction Disease with or without Dilated Cardiomyopathy ISO RGD:2292704 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:30010057|PMID:34203974 40912101 ZNF350 zinc finger protein 350 gene DOID:630 genetic disease ISO RGD:1342631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40912115 AFMID arylformamidase gene DOID:630 genetic disease ISO RGD:1606470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40912257 LOC119870553 small nucleolar RNA SNORA73 family gene DOID:0080600 COVID-19 ISO RGD:1345459 D RGD:9068941 20211224 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 40912267 BRAT1 BRCA1 associated ATM activator 1 gene DOID:0080422 Dravet syndrome ISO RGD:1318809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:22279524|PMID:25500575|PMID:25741868|PMID:28492532|PMID:29390993 40912267 BRAT1 BRCA1 associated ATM activator 1 gene DOID:0090031 D-bifunctional protein deficiency ISO RGD:1318809 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: DBP deficiency PMID:16385454|PMID:22279524|PMID:23035047|PMID:28492532 40912267 BRAT1 BRCA1 associated ATM activator 1 gene DOID:0111957 immunodeficiency 11A ISO RGD:1318809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency PMID:28492532 40912267 BRAT1 BRCA1 associated ATM activator 1 gene DOID:0112361 spondylocostal dysostosis 3 ISO RGD:1318809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 3, autosomal recessive PMID:28492532 40912267 BRAT1 BRCA1 associated ATM activator 1 gene DOID:1059 intellectual disability ISO RGD:1318809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:26467025|PMID:28492532 40912267 BRAT1 BRCA1 associated ATM activator 1 gene DOID:1826 epilepsy ISO RGD:1318809 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 40912267 BRAT1 BRCA1 associated ATM activator 1 gene DOID:308 early myoclonic encephalopathy ISO RGD:1318809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:22279524|PMID:25500575|PMID:25741868|PMID:28492532|PMID:29390993 40912267 BRAT1 BRCA1 associated ATM activator 1 gene DOID:630 genetic disease ISO RGD:1318809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:16452482|PMID:17576681|PMID:22279524|PMID:23035047|PMID:25500575|PMID:25741868|PMID:26467025|PMID:26483087|PMID:26494257|PMID:26535877|PMID:26870756|PMID:26947546|PMID:27282546|PMID:27282648|PMID:27480663|PMID:28492532|PMID:28635423|PMID:28752061|PMID:30552426|PMID:31345272|PMID:32565546|PMID:32964447|PMID:9536098 40912267 BRAT1 BRCA1 associated ATM activator 1 gene DOID:9003268 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal ISO RGD:1318809 D RGD:7240710 20210113 OMIM 40912267 BRAT1 BRCA1 associated ATM activator 1 gene DOID:9003268 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal ISO RGD:1318809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal PMID:16199547|PMID:16452482|PMID:17576681|PMID:22279524|PMID:23035047|PMID:25319849|PMID:25500575|PMID:25741868|PMID:26467025|PMID:26483087|PMID:26494257|PMID:26535877|PMID:26870756|PMID:26947546|PMID:26964041|PMID:27282546|PMID:27282648|PMID:27480663|PMID:28492532|PMID:28635423|PMID:28752061|PMID:29375859|PMID:29390993|PMID:29431110|PMID:29997391|PMID:30346566|PMID:30552426|PMID:31345272|PMID:31618474|PMID:31868227|PMID:32139178|PMID:32565546|PMID:32964447|PMID:9536098 40912267 BRAT1 BRCA1 associated ATM activator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318809 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:16199547|PMID:22279524|PMID:25500575|PMID:25741868|PMID:28492532 40912267 BRAT1 BRCA1 associated ATM activator 1 gene DOID:9009220 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES ISO RGD:1318809 D RGD:7240710 20210113 OMIM 40912267 BRAT1 BRCA1 associated ATM activator 1 gene DOID:9009220 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES ISO RGD:1318809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BRAT1-associated neurodegenerative disorder | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures PMID:16452482|PMID:22279524|PMID:25500575|PMID:25741868|PMID:26467025|PMID:26483087|PMID:26494257|PMID:26535877|PMID:26947546|PMID:26964041|PMID:27282546|PMID:27282648|PMID:27480663|PMID:28492532|PMID:28635423|PMID:28752061|PMID:29375859|PMID:30552426|PMID:31345272|PMID:32964447 40912286 FOXD1 forkhead box D1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1343882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 40912286 FOXD1 forkhead box D1 gene DOID:630 genetic disease ISO RGD:1343882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40912286 FOXD1 forkhead box D1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40912344 LAGE3 L antigen family member 3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1602901 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 40912344 LAGE3 L antigen family member 3 gene DOID:0050476 Barth syndrome ISO RGD:1602901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 40912344 LAGE3 L antigen family member 3 gene DOID:0050800 creatine transporter deficiency ISO RGD:1602901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 40912344 LAGE3 L antigen family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 40912344 LAGE3 L antigen family member 3 gene DOID:0080244 Galloway-Mowat syndrome 2 ISO RGD:1602901 D RGD:7240710 20210114 OMIM 40912344 LAGE3 L antigen family member 3 gene DOID:0080244 Galloway-Mowat syndrome 2 ISO RGD:1602901 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked PMID:12693786|PMID:25741868|PMID:28492532|PMID:28805828 40912344 LAGE3 L antigen family member 3 gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1602901 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:28805828 40912344 LAGE3 L antigen family member 3 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1602901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 40912344 LAGE3 L antigen family member 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1602901 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 40912344 LAGE3 L antigen family member 3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1602901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 40912344 LAGE3 L antigen family member 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1602901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 40912344 LAGE3 L antigen family member 3 gene DOID:12849 autistic disorder ISO RGD:1602901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40912344 LAGE3 L antigen family member 3 gene DOID:13628 favism ISO RGD:1602901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 40912344 LAGE3 L antigen family member 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1602901 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 40912344 LAGE3 L antigen family member 3 gene DOID:607 paraplegia ISO RGD:1602901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 40912344 LAGE3 L antigen family member 3 gene DOID:630 genetic disease ISO RGD:1602901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 40912344 LAGE3 L antigen family member 3 gene DOID:9002720 Splenomegaly ISO RGD:1602901 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 40912461 PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 gene DOID:0070188 spermatogenic failure 1 ISO RGD:1351234 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Oligosynaptic infertility PMID:29581481|PMID:35172124 40912461 PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 gene DOID:14227 azoospermia ISO RGD:1351234 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Azoospermia PMID:29581481|PMID:35172124 40912461 PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1351234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40912461 PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 gene DOID:9001327 Spermatogenic Failure 70 ISO RGD:1351234 D RGD:7240710 20220427 OMIM 40912461 PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 gene DOID:9001327 Spermatogenic Failure 70 ISO RGD:1351234 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 70 PMID:29581481|PMID:35172124 40912475 LOC119871363 small nucleolar RNA SNORD64 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1605532 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 40912475 LOC119871363 small nucleolar RNA SNORD64 gene DOID:12849 autistic disorder ISO RGD:1605532 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 40912475 LOC119871363 small nucleolar RNA SNORD64 gene DOID:1932 Angelman syndrome ISO RGD:1605532 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:25099823|PMID:25212744|PMID:28492532 40912475 LOC119871363 small nucleolar RNA SNORD64 gene DOID:5419 schizophrenia ISO RGD:1605532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40912646 LOC119864359 small nucleolar RNA SNORD26 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1348733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 40912646 LOC119864359 small nucleolar RNA SNORD26 gene DOID:1059 intellectual disability ISO RGD:1348733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 40912678 DUSP4 dual specificity phosphatase 4 gene DOID:630 genetic disease ISO RGD:1348525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40912678 DUSP4 dual specificity phosphatase 4 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1348525 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 40912752 SFT2D3 SFT2 domain containing 3 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1603003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 40912752 SFT2D3 SFT2 domain containing 3 gene DOID:630 genetic disease ISO RGD:1603003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40912830 LOC119865560 U6 spliceosomal RNA gene DOID:9005539 Familial Prostate Cancer ISO RGD:10399185 D RGD:9068941 20211224 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 40912858 MUC17 mucin 17, cell surface associated gene DOID:0060180 colitis ISO RGD:3124 D RGD:9068941 20210129 RGD mRNA:increased expression:ileum, colon PMID:16964428|REF_RGD_ID:1625545 40912858 MUC17 mucin 17, cell surface associated gene DOID:0060180 colitis treatment ISO RGD:3124 D RGD:9068941 20210129 RGD PMID:23395625|REF_RGD_ID:7349360 40912858 MUC17 mucin 17, cell surface associated gene DOID:10283 prostate cancer ISO RGD:1312511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 40912858 MUC17 mucin 17, cell surface associated gene DOID:10754 otitis media ISO RGD:3124 D RGD:9068941 20210129 RGD associated with Pneumococcal Infections PMID:11576628|REF_RGD_ID:2303743 40912858 MUC17 mucin 17, cell surface associated gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 40912858 MUC17 mucin 17, cell surface associated gene DOID:5082 liver cirrhosis ISO RGD:3124 D RGD:9068941 20210129 RGD mRNA:increased expression:ileum PMID:22172882|REF_RGD_ID:7349362 40912858 MUC17 mucin 17, cell surface associated gene DOID:630 genetic disease ISO RGD:1312511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40912858 MUC17 mucin 17, cell surface associated gene DOID:9002159 Liver Reperfusion Injury ISO RGD:3124 D RGD:9068941 20210129 RGD mRNA, protein:decreased expression:bile duct PMID:21775928|REF_RGD_ID:7364757 40912858 MUC17 mucin 17, cell surface associated gene DOID:9002992 Nematode Infections ISO RGD:3124 D RGD:9068941 20210129 RGD mRNA:increased expression:intestine PMID:16689826|REF_RGD_ID:2303607 40912858 MUC17 mucin 17, cell surface associated gene DOID:9446 cholangitis ISO RGD:3124 D RGD:9068941 20210129 RGD mRNA:increased expression:bile duct PMID:19032457|REF_RGD_ID:2325170 40912980 TIMM13 translocase of inner mitochondrial membrane 13 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1352849 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 40912980 TIMM13 translocase of inner mitochondrial membrane 13 gene DOID:630 genetic disease ISO RGD:1352849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40912980 TIMM13 translocase of inner mitochondrial membrane 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40912996 LOC119865100 small nucleolar RNA SNORD15 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1343552 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 40912996 LOC119865100 small nucleolar RNA SNORD15 gene DOID:1059 intellectual disability ISO RGD:1343552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 40913048 ZSCAN32 zinc finger and SCAN domain containing 32 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1343279 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 40913048 ZSCAN32 zinc finger and SCAN domain containing 32 gene DOID:1826 epilepsy ISO RGD:1343279 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 40913048 ZSCAN32 zinc finger and SCAN domain containing 32 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1343279 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 40913048 ZSCAN32 zinc finger and SCAN domain containing 32 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1343279 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 40913048 ZSCAN32 zinc finger and SCAN domain containing 32 gene DOID:630 genetic disease ISO RGD:1343279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40913056 LOC119868419 melanoma-associated antigen B18-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 40913056 LOC119868419 melanoma-associated antigen B18-like gene DOID:12849 autistic disorder ISO RGD:1605545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40913056 LOC119868419 melanoma-associated antigen B18-like gene DOID:630 genetic disease ISO RGD:1605545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40913056 LOC119868419 melanoma-associated antigen B18-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40913154 VNN3P vanin 3 gene DOID:8893 psoriasis ISO RGD:1351839 D RGD:9068941 20210129 CTD CTD Direct Evidence: marker/mechanism PMID:19322213 40913181 FAM174C family with sequence similarity 174 member C gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1346714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 40913181 FAM174C family with sequence similarity 174 member C gene DOID:5339 cyclic hematopoiesis ISO RGD:1346714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 40913293 LOC119873109 small nucleolar RNA SNORD113/SNORD114 family gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 40913384 FREM3 FRAS1 related extracellular matrix 3 gene DOID:1470 major depressive disorder ISO RGD:1343703 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:26441752 40913384 FREM3 FRAS1 related extracellular matrix 3 gene DOID:630 genetic disease ISO RGD:1343703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40913421 LOC119868001 small nucleolar RNA SNORD11 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1602748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:23579436|PMID:26387786 40913436 LOC119873140 small nucleolar RNA SNORD112 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 40913461 DYRK3 dual specificity tyrosine phosphorylation regulated kinase 3 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1322106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 40913461 DYRK3 dual specificity tyrosine phosphorylation regulated kinase 3 gene DOID:12849 autistic disorder ISO RGD:1322106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40913461 DYRK3 dual specificity tyrosine phosphorylation regulated kinase 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1322106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 40913461 DYRK3 dual specificity tyrosine phosphorylation regulated kinase 3 gene DOID:630 genetic disease ISO RGD:1322106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40913461 DYRK3 dual specificity tyrosine phosphorylation regulated kinase 3 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1322106 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 40913461 DYRK3 dual specificity tyrosine phosphorylation regulated kinase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 40913494 LCA5L lebercilin LCA5 like gene DOID:12849 autistic disorder ISO RGD:1345568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40913494 LCA5L lebercilin LCA5 like gene DOID:630 genetic disease ISO RGD:1345568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40913507 MDK midkine gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:69142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 40913507 MDK midkine gene DOID:1059 intellectual disability ISO RGD:69142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 40913507 MDK midkine gene DOID:1790 malignant mesothelioma ISO RGD:69142 D RGD:9068941 20211217 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 40913507 MDK midkine gene DOID:2030 anxiety disorder ISO RGD:69142 D RGD:9068941 20211217 CTD CTD Direct Evidence: marker/mechanism PMID:19217924 40913507 MDK midkine gene DOID:2316 brain ischemia ISO RGD:69142 D RGD:9068941 20211217 RGD PMID:12127679|REF_RGD_ID:1582476 40913507 MDK midkine gene DOID:289 endometriosis ISO RGD:69142 D RGD:9068941 20211217 RGD PMID:15734764|REF_RGD_ID:1581202 40913507 MDK midkine gene DOID:3070 high grade glioma ISO RGD:69142 D RGD:9068941 20211217 CTD CTD Direct Evidence: marker/mechanism PMID:21233844 40913507 MDK midkine gene DOID:630 genetic disease ISO RGD:69142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40913507 MDK midkine gene DOID:9002165 Diabetic Nephropathies ISO RGD:69142 D RGD:9068941 20211217 CTD CTD Direct Evidence: marker/mechanism PMID:17607302 40913507 MDK midkine gene DOID:9008023 Memory Disorders ISO RGD:69142 D RGD:9068941 20211217 CTD CTD Direct Evidence: marker/mechanism PMID:19217924 40913507 MDK midkine gene DOID:9008086 Developmental Disabilities ISO RGD:69142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 40913521 LOC119873086 small nucleolar RNA SNORD113/SNORD114 family gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602518 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 40913545 LOC119873107 small nucleolar RNA SNORD113/SNORD114 family gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 40913674 GPR150 G protein-coupled receptor 150 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343055 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 40913674 GPR150 G protein-coupled receptor 150 gene DOID:630 genetic disease ISO RGD:1343055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40913674 GPR150 G protein-coupled receptor 150 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1343055 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:17303177 40913674 GPR150 G protein-coupled receptor 150 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40913674 GPR150 G protein-coupled receptor 150 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 40913674 GPR150 G protein-coupled receptor 150 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343055 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 40913758 TPRN taperin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1352518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB PMID:20170899|PMID:30303587 40913758 TPRN taperin gene DOID:0050777 Joubert syndrome ISO RGD:1352518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 40913758 TPRN taperin gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1352518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 40913758 TPRN taperin gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1352518 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 40913758 TPRN taperin gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1352518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 40913758 TPRN taperin gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1352518 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 40913758 TPRN taperin gene DOID:0081097 Rafiq syndrome ISO RGD:1352518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 40913758 TPRN taperin gene DOID:0110526 autosomal recessive nonsyndromic deafness 79 ISO RGD:1352518 D RGD:7240710 20210113 OMIM 40913758 TPRN taperin gene DOID:0110526 autosomal recessive nonsyndromic deafness 79 ISO RGD:1352518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 79 PMID:20170898|PMID:20170899|PMID:24033266|PMID:25741868|PMID:26969326|PMID:28492532|PMID:30303587 40913758 TPRN taperin gene DOID:1826 epilepsy ISO RGD:1352518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 40913758 TPRN taperin gene DOID:630 genetic disease ISO RGD:1352518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 40913758 TPRN taperin gene DOID:9004538 Hearing Loss ISO RGD:1352518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386 40913758 TPRN taperin gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1352518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 40913770 ZIC1 Zic family member 1 gene DOID:0050777 Joubert syndrome ISO RGD:735695 D RGD:9068941 20220825 MouseDO 40913770 ZIC1 Zic family member 1 gene DOID:2340 craniosynostosis ISO RGD:735694 D RGD:9068941 20210129 CTD CTD Direct Evidence: marker/mechanism 40913770 ZIC1 Zic family member 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:735694 D RGD:9068941 20210129 RGD PMID:15338008|REF_RGD_ID:1599905 40913770 ZIC1 Zic family member 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:735695 D RGD:9068941 20220825 MouseDO OMIM:220200 40913770 ZIC1 Zic family member 1 gene DOID:630 genetic disease ISO RGD:735694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40913770 ZIC1 Zic family member 1 gene DOID:9002109 STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS ISO RGD:735694 D RGD:7240710 20210127 OMIM 40913770 ZIC1 Zic family member 1 gene DOID:9002109 STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS ISO RGD:735694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Structural brain anomalies with impaired intellectual development and craniosynostosis PMID:26340333|PMID:30391508 40913770 ZIC1 Zic family member 1 gene DOID:9003835 Craniosynostosis 6 ISO RGD:735694 D RGD:7240710 20210127 OMIM 40913770 ZIC1 Zic family member 1 gene DOID:9003835 Craniosynostosis 6 ISO RGD:735694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis 6 PMID:25741868|PMID:26340333 40913788 LOC119872095 small nucleolar RNA SNORD14 gene DOID:5419 schizophrenia ISO RGD:2798088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40913834 AP5M1 adaptor related protein complex 5 subunit mu 1 gene DOID:4450 renal cell carcinoma ISO RGD:1317656 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 40913834 AP5M1 adaptor related protein complex 5 subunit mu 1 gene DOID:630 genetic disease ISO RGD:1317656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40913879 LOC119865808 small nucleolar SNORD12/SNORD106 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:1602330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 40913944 LOC119873800 U12 minor spliceosomal RNA gene DOID:9005626 Craniosynostosis, Anal Anomalies, and Porokeratosis ISO RGD:1344410 D RGD:7240710 20230208 OMIM 40913944 LOC119873800 U12 minor spliceosomal RNA gene DOID:9005626 Craniosynostosis, Anal Anomalies, and Porokeratosis ISO RGD:1344410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CDAGS syndrome PMID:23602181|PMID:2400728|PMID:28217872|PMID:34085356|PMID:9733036 40913944 LOC119873800 U12 minor spliceosomal RNA gene DOID:9006060 Autosomal Recessive Spinocerebellar Ataxia 33 ISO RGD:1344410 D RGD:7240710 20230208 OMIM 40913944 LOC119873800 U12 minor spliceosomal RNA gene DOID:9006060 Autosomal Recessive Spinocerebellar Ataxia 33 ISO RGD:1344410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 33 PMID:27863452 40914004 LOC119872406 small nucleolar RNA SNORA66 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1343246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 40914061 INKA2 inka box actin regulator 2 gene DOID:630 genetic disease ISO RGD:1603392 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40914102 LOC119867629 olfactory receptor 2B2-like gene DOID:630 genetic disease ISO RGD:1346885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40914123 SLC10A5 solute carrier family 10 member 5 gene DOID:630 genetic disease ISO RGD:1314423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40914218 GDF6 growth differentiation factor 6 gene DOID:0060836 isolated microphthalmia 4 ISO RGD:1347722 D RGD:7240710 20210114 OMIM 40914218 GDF6 growth differentiation factor 6 gene DOID:0060836 isolated microphthalmia 4 ISO RGD:1347722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 4 PMID:18425797|PMID:19129173|PMID:23307924|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32737436 40914218 GDF6 growth differentiation factor 6 gene DOID:0080205 CAKUT ISO RGD:1347722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:18425797|PMID:19129173|PMID:23307924|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32737436 40914218 GDF6 growth differentiation factor 6 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1347722 D RGD:7240710 20210114 OMIM 40914218 GDF6 growth differentiation factor 6 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1347722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:18425797|PMID:19129173|PMID:19864492|PMID:20057906|PMID:20494911|PMID:21070663|PMID:22204637|PMID:23307924|PMID:24033266|PMID:24442880|PMID:25741868|PMID:25741869|PMID:28492532|PMID:32737436|PMID:9129173 40914218 GDF6 growth differentiation factor 6 gene DOID:0081320 multiple synostoses syndrome 4 ISO RGD:1347722 D RGD:7240710 20210114 OMIM 40914218 GDF6 growth differentiation factor 6 gene DOID:0081320 multiple synostoses syndrome 4 ISO RGD:1347722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple synostoses syndrome 4 PMID:25741868|PMID:26643732|PMID:29130651 40914218 GDF6 growth differentiation factor 6 gene DOID:0110217 Leber congenital amaurosis 17 ISO RGD:1347722 D RGD:7240710 20210114 OMIM 40914218 GDF6 growth differentiation factor 6 gene DOID:0110217 Leber congenital amaurosis 17 ISO RGD:1347722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 17 PMID:18425797|PMID:19129173|PMID:19864492|PMID:23307924|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32737436 40914218 GDF6 growth differentiation factor 6 gene DOID:10426 Klippel-Feil syndrome ISO RGD:1347722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CERVICAL VERTEBRAL FUSION, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Klippel-Feil syndrome PMID:18425797|PMID:19129173|PMID:23307924|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32737436 40914218 GDF6 growth differentiation factor 6 gene DOID:630 genetic disease ISO RGD:1347722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 40914218 GDF6 growth differentiation factor 6 gene DOID:674 cleft palate ISO RGD:1347722 D RGD:9068941 20210122 RGD PMID:18716610|REF_RGD_ID:12798509 40914218 GDF6 growth differentiation factor 6 gene DOID:9001685 Isolated Microphthalmia with Coloboma 6 ISO RGD:1347722 D RGD:7240710 20210114 OMIM 40914218 GDF6 growth differentiation factor 6 gene DOID:9001685 Isolated Microphthalmia with Coloboma 6 ISO RGD:1347722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6 PMID:18425797|PMID:19129173|PMID:19864492|PMID:23307924|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32737436 40914218 GDF6 growth differentiation factor 6 gene DOID:9296 cleft lip ISO RGD:1347722 D RGD:9068941 20210122 RGD PMID:18716610|REF_RGD_ID:12798509 40914479 HOXD4 homeobox D4 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1320172 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 40914479 HOXD4 homeobox D4 gene DOID:630 genetic disease ISO RGD:1320172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40914479 HOXD4 homeobox D4 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1320172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to PMID:15776434 40914488 COPS9 COP9 signalosome subunit 9 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1601821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 40914488 COPS9 COP9 signalosome subunit 9 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1601821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 40914488 COPS9 COP9 signalosome subunit 9 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1601821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 40914488 COPS9 COP9 signalosome subunit 9 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1601821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 40914488 COPS9 COP9 signalosome subunit 9 gene DOID:1059 intellectual disability ISO RGD:1601821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 40914488 COPS9 COP9 signalosome subunit 9 gene DOID:630 genetic disease ISO RGD:1601821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40914488 COPS9 COP9 signalosome subunit 9 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1601821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 40914496 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:0050880 Koolen de Vries syndrome ISO RGD:1605247 D RGD:7240710 20210114 OMIM 40914496 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:0050880 Koolen de Vries syndrome ISO RGD:1605247 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome | ClinVar Annotator: match by term: Koolen-de Vries syndrome PMID:16199547|PMID:17576681|PMID:18628315|PMID:20301783|PMID:21094706|PMID:22544363|PMID:22544367|PMID:24056718|PMID:24088041|PMID:25326635|PMID:25326637|PMID:25640679|PMID:25741868|PMID:25741877|PMID:26306646|PMID:26424144|PMID:26467025|PMID:26633545|PMID:28211987|PMID:28492532|PMID:29352316|PMID:29655203|PMID:30293248|PMID:33004838|PMID:9536098 40914496 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:0050888 syndromic intellectual disability ISO RGD:1605247 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:26467025|PMID:28492532 40914496 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:0060641 endocrine-cerebro-osteodysplasia syndrome ISO RGD:1605247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysplastic corpus callosum PMID:25741868 40914496 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1605247 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 40914496 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1605247 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:24056718 40914496 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:1605247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:26424144|PMID:26467025|PMID:28492532 40914496 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:1826 epilepsy ISO RGD:1605247 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 40914496 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:630 genetic disease ISO RGD:1605247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24056718|PMID:25741868|PMID:26424144|PMID:26467025|PMID:28492532|PMID:29352316|PMID:30293248 40914496 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:9001626 Chromosome 17 Deletion ISO RGD:1605247 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:22544363|PMID:22544367 40914496 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1605247 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:31043753 40914496 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 40914496 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1605247 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:22544363|PMID:22544367 40914496 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1605247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:20301783|PMID:22544363|PMID:22544367|PMID:25741868|PMID:25741877|PMID:28492532 40914496 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:9008582 Developmental Disease ISO RGD:1605247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 40914496 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1605247 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:22544363|PMID:22544367 40914496 KANSL1 KAT8 regulatory NSL complex subunit 1 gene DOID:9255 frontotemporal dementia ISO RGD:1605247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:18628315|PMID:21094706|PMID:28492532 40914517 SLC25A22 solute carrier family 25 member 22 gene DOID:0050562 West syndrome ISO RGD:1317247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive PMID:28492532 40914517 SLC25A22 solute carrier family 25 member 22 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1317247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15592994|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19780765|PMID:25033742|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28255779|PMID:28492532|PMID:9536098 40914517 SLC25A22 solute carrier family 25 member 22 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1317247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15592994|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19780765|PMID:25033742|PMID:25741868|PMID:26467025|PMID:27843123|PMID:27864847|PMID:28255779|PMID:28454995|PMID:28492532|PMID:31589614|PMID:9536098 40914517 SLC25A22 solute carrier family 25 member 22 gene DOID:0050729 neutral lipid storage disease ISO RGD:1317247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 40914517 SLC25A22 solute carrier family 25 member 22 gene DOID:0080440 developmental and epileptic encephalopathy 3 ISO RGD:1317247 D RGD:7240710 20210113 OMIM 40914517 SLC25A22 solute carrier family 25 member 22 gene DOID:0080440 developmental and epileptic encephalopathy 3 ISO RGD:1317247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 3 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 3 PMID:15592994|PMID:18414213|PMID:19780765|PMID:24596948|PMID:25033742|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31589614 40914517 SLC25A22 solute carrier family 25 member 22 gene DOID:0080773 delta beta-thalassemia ISO RGD:1317247 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 40914517 SLC25A22 solute carrier family 25 member 22 gene DOID:0111969 immunodeficiency 39 ISO RGD:1317247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 40914517 SLC25A22 solute carrier family 25 member 22 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1317247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:15592994|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19780765|PMID:25033742|PMID:25741868|PMID:26467025|PMID:27843123|PMID:27864847|PMID:28255779|PMID:28454995|PMID:28492532|PMID:31589614|PMID:9536098 40914517 SLC25A22 solute carrier family 25 member 22 gene DOID:10283 prostate cancer ISO RGD:1317247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 40914517 SLC25A22 solute carrier family 25 member 22 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1317247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 40914517 SLC25A22 solute carrier family 25 member 22 gene DOID:1826 epilepsy ISO RGD:1317247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 40914517 SLC25A22 solute carrier family 25 member 22 gene DOID:1826 epilepsy ISO RGD:1317247 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 40914517 SLC25A22 solute carrier family 25 member 22 gene DOID:308 early myoclonic encephalopathy ISO RGD:1317247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:15592994|PMID:18414213|PMID:19780765|PMID:25033742|PMID:25741868|PMID:26467025|PMID:27843123|PMID:27864847|PMID:28454995|PMID:28492532 40914517 SLC25A22 solute carrier family 25 member 22 gene DOID:630 genetic disease ISO RGD:1317247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28492532|PMID:9536098 40914517 SLC25A22 solute carrier family 25 member 22 gene DOID:9003816 Macrocephaly ISO RGD:1317247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868|PMID:28492532 40914517 SLC25A22 solute carrier family 25 member 22 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1317247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 40914517 SLC25A22 solute carrier family 25 member 22 gene DOID:9008086 Developmental Disabilities ISO RGD:1317247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:25741868|PMID:28492532 40914525 VSIG10L2 V-set and immunoglobulin domain containing 10 like 2 gene DOID:5419 schizophrenia ISO RGD:12801887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40914686 MICA MHC class I polypeptide-related sequence A gene DOID:0050553 JMP syndrome ISO RGD:1345713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 40914686 MICA MHC class I polypeptide-related sequence A gene DOID:11372 megacolon ISO RGD:1345713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 40914686 MICA MHC class I polypeptide-related sequence A gene DOID:3362 coronary aneurysm ISO RGD:1345713 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:10899738 40914686 MICA MHC class I polypeptide-related sequence A gene DOID:5773 oral submucous fibrosis ISO RGD:1345713 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 40914686 MICA MHC class I polypeptide-related sequence A gene DOID:630 genetic disease ISO RGD:1345713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40914686 MICA MHC class I polypeptide-related sequence A gene DOID:684 hepatocellular carcinoma ISO RGD:1345713 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:21499248 40914692 LOC119868002 small nucleolar RNA SNORD11B gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1626523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:23579436|PMID:26387786 40914723 HES1 hes family bHLH transcription factor 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:62373 D RGD:9068941 20220204 RGD protein:increased expression:tongue (mouse) PMID:30624777|REF_RGD_ID:151347668 40914723 HES1 hes family bHLH transcription factor 1 gene DOID:1826 epilepsy treatment ISO RGD:62081 D RGD:9068941 20210129 RGD PMID:23928226|REF_RGD_ID:9685365 40914723 HES1 hes family bHLH transcription factor 1 gene DOID:264 hemangiopericytoma ISO RGD:1605434 D RGD:9068941 20221110 RGD mRNA:increased expression:anterior temporal lobe PMID:26951238|REF_RGD_ID:155663351 40914723 HES1 hes family bHLH transcription factor 1 gene DOID:3021 acute kidney failure ISO RGD:62081 D RGD:9068941 20210129 RGD mRNA:increased expression:kidney collecting duct (rat) PMID:24397211|REF_RGD_ID:9685383 40914723 HES1 hes family bHLH transcription factor 1 gene DOID:3021 acute kidney failure ISO RGD:62081 D RGD:9068941 20210129 RGD protein:increased expression:kidney tubule (rat) PMID:24325066|REF_RGD_ID:9685389 40914723 HES1 hes family bHLH transcription factor 1 gene DOID:3068 glioblastoma ISO RGD:1605434 D RGD:9068941 20210129 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 40914723 HES1 hes family bHLH transcription factor 1 gene DOID:3181 oligodendroglioma ISO RGD:1605434 D RGD:9068941 20210129 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 40914723 HES1 hes family bHLH transcription factor 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:1605434 D RGD:9068941 20210129 CTD CTD Direct Evidence: marker/mechanism PMID:20038814 40914723 HES1 hes family bHLH transcription factor 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:62373 D RGD:9068941 20210129 RGD protein:increased expression:spinal chord PMID:26067594|REF_RGD_ID:13524575 40914723 HES1 hes family bHLH transcription factor 1 gene DOID:3565 meningioma ISO RGD:1605434 D RGD:9068941 20210129 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 40914723 HES1 hes family bHLH transcription factor 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1605434 D RGD:9068941 20210129 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 40914723 HES1 hes family bHLH transcription factor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605434 D RGD:9068941 20210129 CTD CTD Direct Evidence: marker/mechanism PMID:21994468 40914723 HES1 hes family bHLH transcription factor 1 gene DOID:5199 ureteral obstruction ISO RGD:1605434 D RGD:9068941 20210129 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 40914723 HES1 hes family bHLH transcription factor 1 gene DOID:5419 schizophrenia ISO RGD:1605434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40914723 HES1 hes family bHLH transcription factor 1 gene DOID:630 genetic disease ISO RGD:1605434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40914723 HES1 hes family bHLH transcription factor 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:62081 D RGD:9068941 20210129 RGD rat gene in a mouse model PMID:19861684|REF_RGD_ID:9685380 40914723 HES1 hes family bHLH transcription factor 1 gene DOID:8947 diabetic retinopathy ISO RGD:62373 D RGD:9068941 20221110 RGD mRNA:increased expression:retina: PMID:30787185|REF_RGD_ID:155663348 40914723 HES1 hes family bHLH transcription factor 1 gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:1605434 D RGD:9068941 20210129 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 40914723 HES1 hes family bHLH transcription factor 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1605434 D RGD:9068941 20210129 CTD CTD Direct Evidence: marker/mechanism PMID:19147571 40914723 HES1 hes family bHLH transcription factor 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1605434 D RGD:9068941 20210129 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 40914723 HES1 hes family bHLH transcription factor 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:62373 D RGD:9068941 20221111 RGD PMID:23188126|REF_RGD_ID:155663352 40914723 HES1 hes family bHLH transcription factor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1605434 D RGD:9068941 20210129 CTD CTD Direct Evidence: marker/mechanism PMID:17804716 40914723 HES1 hes family bHLH transcription factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1605434 D RGD:9068941 20210129 CTD CTD Direct Evidence: marker/mechanism PMID:20197467|PMID:21036696 40914723 HES1 hes family bHLH transcription factor 1 gene DOID:9351 diabetes mellitus ISO RGD:62373 D RGD:9068941 20221110 RGD protein:increased expression:skin: PMID:30886104|REF_RGD_ID:155646129 40914739 LOC119868518 small integral membrane protein 10-like protein 2A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:5488264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 40914739 LOC119868518 small integral membrane protein 10-like protein 2A gene DOID:12849 autistic disorder ISO RGD:5488264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40914739 LOC119868518 small integral membrane protein 10-like protein 2A gene DOID:630 genetic disease ISO RGD:5488264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40914785 COG2 component of oligomeric golgi complex 2 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1312615 D RGD:7240710 20210113 OMIM 40914785 COG2 component of oligomeric golgi complex 2 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1312615 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:17576681|PMID:24784932|PMID:25741868|PMID:28492532|PMID:32293671|PMID:9536098 40914785 COG2 component of oligomeric golgi complex 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1312615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 40914785 COG2 component of oligomeric golgi complex 2 gene DOID:630 genetic disease ISO RGD:1312615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 40914785 COG2 component of oligomeric golgi complex 2 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1312615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 40914785 COG2 component of oligomeric golgi complex 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 40914824 LOC119865802 small nucleolar RNA SNORA28 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1602585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 40914852 NLRC4 NLR family CARD domain containing 4 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1320383 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:25741868 40914852 NLRC4 NLR family CARD domain containing 4 gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1320383 D RGD:7240710 20210113 OMIM 40914852 NLRC4 NLR family CARD domain containing 4 gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1320383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 PMID:16199547|PMID:17576681|PMID:24033266|PMID:25217959|PMID:25217960|PMID:25385754|PMID:25741868|PMID:27974463|PMID:28492532|PMID:29326099|PMID:29778503|PMID:30783801|PMID:30864118|PMID:32081864|PMID:33822359|PMID:34248956|PMID:9536098 40914852 NLRC4 NLR family CARD domain containing 4 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1320383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914|PMID:25741868|PMID:28492532 40914852 NLRC4 NLR family CARD domain containing 4 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1320383 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:24033266|PMID:25741868|PMID:28492532 40914852 NLRC4 NLR family CARD domain containing 4 gene DOID:607 paraplegia ISO RGD:1320383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:32581362 40914852 NLRC4 NLR family CARD domain containing 4 gene DOID:630 genetic disease ISO RGD:1320383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 40914852 NLRC4 NLR family CARD domain containing 4 gene DOID:9002798 Macrophage Activation Syndrome ISO RGD:1320383 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:25217959 40914852 NLRC4 NLR family CARD domain containing 4 gene DOID:9002805 Enterocolitis ISO RGD:1320383 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:25217960 40914852 NLRC4 NLR family CARD domain containing 4 gene DOID:9006364 Hereditary Autoinflammatory Diseases ISO RGD:1320383 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:25217959|PMID:25217960 40914852 NLRC4 NLR family CARD domain containing 4 gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:1320383 D RGD:7240710 20210113 OMIM 40914852 NLRC4 NLR family CARD domain containing 4 gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:1320383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis | ClinVar Annotator: match by term: Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) PMID:16199547|PMID:17576681|PMID:24033266|PMID:25217959|PMID:25217960|PMID:25385754|PMID:25741868|PMID:27974463|PMID:28492532|PMID:29326099|PMID:29778503|PMID:30319625|PMID:30783801|PMID:30864118|PMID:32081864|PMID:33822359|PMID:34248956|PMID:9536098 40914852 NLRC4 NLR family CARD domain containing 4 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1320383 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism 40914979 IMP4 IMP U3 small nucleolar ribonucleoprotein 4 gene DOID:630 genetic disease ISO RGD:1605599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40915012 FEZF1 FEZ family zinc finger 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1604689 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25741868|PMID:28492532 40915012 FEZF1 FEZ family zinc finger 1 gene DOID:0090081 hypogonadotropic hypogonadism 22 with or without anosmia ISO RGD:1604689 D RGD:7240710 20210113 OMIM 40915012 FEZF1 FEZ family zinc finger 1 gene DOID:0090081 hypogonadotropic hypogonadism 22 with or without anosmia ISO RGD:1604689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 22 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 22 with or without anosmia PMID:25192046|PMID:25741868 40915012 FEZF1 FEZ family zinc finger 1 gene DOID:13938 amenorrhea ISO RGD:1604689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 40915012 FEZF1 FEZ family zinc finger 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 40915012 FEZF1 FEZ family zinc finger 1 gene DOID:630 genetic disease ISO RGD:1604689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40915016 HBQ1 hemoglobin subunit theta 1 gene DOID:1099 alpha thalassemia ISO RGD:1313995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: alpha Thalassemia PMID:10602170|PMID:11017952|PMID:12393486|PMID:1553958|PMID:15650030|PMID:20154289|PMID:21599435|PMID:2318293|PMID:23590659|PMID:24025420|PMID:28791910|PMID:30864493|PMID:3191033|PMID:538560|PMID:7910813|PMID:8781536 40915016 HBQ1 hemoglobin subunit theta 1 gene DOID:630 genetic disease ISO RGD:1313995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40915017 LOC119871356 small nucleolar RNA SNORD45 gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:1602741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:28492532 40915058 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:0111940 immunodeficiency 42 ISO RGD:732739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 40915058 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 40915058 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732739 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 40915058 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:1540 parathyroid carcinoma ISO RGD:732739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 40915058 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:1909 melanoma ISO RGD:732739 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:21983785 40915058 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:289 endometriosis ISO RGD:732739 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 40915058 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:4450 renal cell carcinoma treatment ISO RGD:732739 D RGD:9068941 20210122 RGD DNA:missense mutation: :pF446L (human) PMID:27595394|REF_RGD_ID:13503335 40915058 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:5082 liver cirrhosis ISO RGD:732739 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:22271822 40915058 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:5812 MHC class II deficiency ISO RGD:732739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 40915058 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:630 genetic disease ISO RGD:732739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40915058 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:9002170 Experimental Neoplasms ISO RGD:732739 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:9496914 40915058 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:9003281 Spontaneous Abortions ISO RGD:732739 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 40915058 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732739 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:20935161 40915058 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:9008443 Colorectal Neoplasms ISO RGD:732739 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:21081473 40915058 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 40915058 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:9352 type 2 diabetes mellitus ISO RGD:732739 D RGD:9068941 20210122 RGD mRNA:decreased expression:pancreatic islet PMID:16096055|REF_RGD_ID:2313995 40915058 ARNT aryl hydrocarbon receptor nuclear translocator gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732739 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:22674224 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:0050589 inflammatory bowel disease ISO RGD:10928 D RGD:9068941 20220825 MouseDO 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:0060071 pre-malignant neoplasm ISO RGD:3123 D RGD:9068941 20210122 RGD protein:decreased expression:colon PMID:17847023|REF_RGD_ID:7349371 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:0060180 colitis ISO RGD:10785 D RGD:9068941 20210122 RGD protein:decreased sulfation:descending colon PMID:12395902|REF_RGD_ID:7349356 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:0060180 colitis ISO RGD:3123 D RGD:9068941 20210122 RGD mRNA:decreased expression:colon PMID:19220658|REF_RGD_ID:2324675 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:0060180 colitis treatment ISO RGD:3123 D RGD:9068941 20210122 RGD PMID:21949848|PMID:23395625|REF_RGD_ID:7349360|REF_RGD_ID:7349385 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:0080178 mucositis ISO RGD:3123 D RGD:9068941 20210122 RGD protein:decreased expression:intestine PMID:18998135|REF_RGD_ID:2303603 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:0080773 delta beta-thalassemia ISO RGD:735987 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:0111969 immunodeficiency 39 ISO RGD:735987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:11204 allergic conjunctivitis severity ISO RGD:735987 D RGD:9068941 20210122 RGD PMID:17177679|REF_RGD_ID:7349351 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:12236 primary biliary cholangitis ISO RGD:735987 D RGD:9068941 20210122 RGD PMID:18507686|REF_RGD_ID:2324885 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:1324 lung cancer ISO RGD:735987 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:1485 cystic fibrosis ISO RGD:735987 D RGD:9068941 20210122 RGD mRNA:increased expression:nasal mucosa (human) PMID:9155717|REF_RGD_ID:5131426 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:1679 cystitis ISO RGD:735987 D RGD:9068941 20210122 RGD PMID:17659847|REF_RGD_ID:7349345 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:1984 rectal benign neoplasm ISO RGD:735987 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:12468628 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:219 colon cancer ISO RGD:3123 D RGD:9068941 20210122 RGD mRNA:decreased expression:colon PMID:20459814|REF_RGD_ID:7349368 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:219 colon cancer ISO RGD:3123 D RGD:9068941 20210122 RGD protein:decreased expression:colon PMID:17847023|REF_RGD_ID:7349371 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:10928 D RGD:9068941 20210122 RGD PMID:14594655|REF_RGD_ID:7349354 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:735987 D RGD:9068941 20210122 RGD associated with hypersensitivity PMID:11062147|REF_RGD_ID:5131178 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:299 adenocarcinoma ISO RGD:735987 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:12468628 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma ISO RGD:735987 D RGD:9068941 20210122 RGD associated Pancreatic Neoplasms;protein:increased expression:pancreas PMID:12717243|REF_RGD_ID:2317985 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma ISO RGD:735987 D RGD:9068941 20210122 RGD associated with pancreatic neoplasms;protein:increased expression:pancreas PMID:17708554|REF_RGD_ID:2324887 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma ISO RGD:735987 D RGD:9068941 20210122 RGD associated with cholangiocarcinoma;mRNA,protein:increased expression:bile duct PMID:15048136|REF_RGD_ID:2324868 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma ISO RGD:735987 D RGD:9068941 20210122 RGD associated with pancreatic diseases;protein:increased expression:pancreas PMID:19954814|REF_RGD_ID:2324889 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:326 ischemia ISO RGD:3123 D RGD:9068941 20210122 RGD protein:decreased expression:jejunum PMID:22768227|REF_RGD_ID:7349363 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:4947 cholangiocarcinoma ISO RGD:735987 D RGD:9068941 20210122 RGD mRNA:decreased expression:bile duct PMID:11680592|REF_RGD_ID:2324948 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:5082 liver cirrhosis ISO RGD:3123 D RGD:9068941 20210122 RGD mRNA:increased expression:ileum PMID:22172882|REF_RGD_ID:7349362 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:5295 intestinal disease treatment ISO RGD:3123 D RGD:9068941 20210122 RGD PMID:22293291|REF_RGD_ID:7349361 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:5409 lung small cell carcinoma ISO RGD:735987 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:552 pneumonia treatment ISO RGD:3123 D RGD:9068941 20210122 RGD PMID:23590300|REF_RGD_ID:7349359 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:657 adenoma ISO RGD:735987 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:12468628 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:8577 ulcerative colitis ISO RGD:3123 D RGD:9068941 20210122 RGD mRNA:altered expression: : PMID:12870797|REF_RGD_ID:2324685 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:3123 D RGD:9068941 20211015 RGD mRNA:decreased expression:ileum PMID:20501441|REF_RGD_ID:2324672 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:9000011 Gallbladder Neoplasms ISO RGD:735987 D RGD:9068941 20210122 RGD protein:increased expression:gallbladder PMID:15260848|REF_RGD_ID:2324651 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:9000645 Rotavirus Infections ISO RGD:10928 D RGD:9068941 20210122 RGD PMID:15882887|REF_RGD_ID:7349352 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:9002231 Fetal Growth Retardation ISO RGD:3123 D RGD:9068941 20210122 RGD PMID:19287349|REF_RGD_ID:7349369 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:9002245 Intestinal Neoplasms ISO RGD:735987 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:12468628 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:9002953 Escherichia Coli Infections ISO RGD:3123 D RGD:9068941 20210122 RGD PMID:23798529|REF_RGD_ID:7349358 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:9002992 Nematode Infections ISO RGD:10928 D RGD:9068941 20210122 RGD PMID:20138044|REF_RGD_ID:7349349 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:9002992 Nematode Infections ISO RGD:3123 D RGD:9068941 20210122 RGD mRNA:increased expression:intestine PMID:16689826|REF_RGD_ID:2303607 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:735987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:9004283 Transplant Rejection ISO RGD:3123 D RGD:9068941 20210122 RGD PMID:12717211|REF_RGD_ID:7349372 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:9005372 Inflammation ISO RGD:3123 D RGD:9068941 20210122 RGD protein:altered expression:colon PMID:15980276|REF_RGD_ID:8693640 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:9005930 Endotoxemia ISO RGD:3123 D RGD:9068941 20210122 RGD PMID:19099858|REF_RGD_ID:7349370 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:9006970 Cestode Infections ISO RGD:3123 D RGD:9068941 20210122 RGD PMID:17187651|REF_RGD_ID:7349350 40915062 MUC2 mucin 2, oligomeric mucus/gel-forming gene DOID:9206 Barrett's esophagus disease_progression ISO RGD:735987 D RGD:9068941 20210122 RGD PMID:23011828|REF_RGD_ID:7349348 40915069 C17H2orf16 chromosome 17 C2orf16 homolog gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1352942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 40915069 C17H2orf16 chromosome 17 C2orf16 homolog gene DOID:630 genetic disease ISO RGD:1352942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40915078 LOC119871353 small nucleolar RNA SNORD116 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1604108 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 40915078 LOC119871353 small nucleolar RNA SNORD116 gene DOID:12849 autistic disorder ISO RGD:1604108 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 40915078 LOC119871353 small nucleolar RNA SNORD116 gene DOID:1932 Angelman syndrome ISO RGD:1604108 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:25099823|PMID:25212744|PMID:28492532 40915078 LOC119871353 small nucleolar RNA SNORD116 gene DOID:5419 schizophrenia ISO RGD:1604108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40915114 NDUFB1 NADH:ubiquinone oxidoreductase subunit B1 gene DOID:0080054 achondrogenesis type IA ISO RGD:1350721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 40915114 NDUFB1 NADH:ubiquinone oxidoreductase subunit B1 gene DOID:630 genetic disease ISO RGD:1350721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40915154 NOTO notochord homeobox gene DOID:0050473 Alstrom syndrome ISO RGD:1348141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 40915154 NOTO notochord homeobox gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1348141 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 40915154 NOTO notochord homeobox gene DOID:543 dystonia ISO RGD:1348141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 40915154 NOTO notochord homeobox gene DOID:630 genetic disease ISO RGD:1348141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40915154 NOTO notochord homeobox gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1348141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 40915181 LOC119867997 small nucleolar RNA SNORD70 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1602540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:23579436|PMID:26387786 40915234 FOXQ1 forkhead box Q1 gene DOID:630 genetic disease ISO RGD:732997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40915234 FOXQ1 forkhead box Q1 gene DOID:9008939 Breast Neoplasms ISO RGD:732997 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:27129776 40915268 LRRC3C leucine rich repeat containing 3C gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:5131999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 40915268 LRRC3C leucine rich repeat containing 3C gene DOID:630 genetic disease ISO RGD:5131999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40915319 LOC119867070 SH3 domain-binding glutamic acid-rich protein-like gene DOID:12849 autistic disorder ISO RGD:1346069 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40915319 LOC119867070 SH3 domain-binding glutamic acid-rich protein-like gene DOID:630 genetic disease ISO RGD:1346069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40915369 SCCPDH saccharopine dehydrogenase (putative) gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1606286 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 40915369 SCCPDH saccharopine dehydrogenase (putative) gene DOID:1540 parathyroid carcinoma ISO RGD:1606286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 40915369 SCCPDH saccharopine dehydrogenase (putative) gene DOID:630 genetic disease ISO RGD:1606286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40915369 SCCPDH saccharopine dehydrogenase (putative) gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 40915424 POM121L2 POM121 transmembrane nucleoporin like 2 gene DOID:630 genetic disease ISO RGD:1343533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40915501 DCTD dCMP deaminase gene DOID:630 genetic disease ISO RGD:1349899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40915508 EZHIP EZH inhibitory protein gene DOID:12849 autistic disorder ISO RGD:1603340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40915593 LOC119868658 small nucleolar RNA SNORA56 gene DOID:0112003 immunodeficiency 33 ISO RGD:1602562 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 40915593 LOC119868658 small nucleolar RNA SNORA56 gene DOID:12849 autistic disorder ISO RGD:1602562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40915593 LOC119868658 small nucleolar RNA SNORA56 gene DOID:9002720 Splenomegaly ISO RGD:1602562 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 40915595 LOC119869194 coiled-coil domain-containing protein 144B-like gene DOID:0111393 mucopolysaccharidosis type IIIC ISO RGD:1603854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C PMID:28492532 40915595 LOC119869194 coiled-coil domain-containing protein 144B-like gene DOID:630 genetic disease ISO RGD:1603854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40915626 LOC119865809 small nucleolar SNORD12/SNORD106 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:1626522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 40915674 NCOA3 nuclear receptor coactivator 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1344181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:19461658|PMID:30311386|PMID:33326993|PMID:34652575 40915674 NCOA3 nuclear receptor coactivator 3 gene DOID:10283 prostate cancer ISO RGD:1344181 D RGD:9068941 20210122 RGD mRNA:increased expression:prostate (human) PMID:20166126|REF_RGD_ID:5688351 40915674 NCOA3 nuclear receptor coactivator 3 gene DOID:1240 leukemia ISO RGD:1344181 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:19365708|PMID:19433130 40915674 NCOA3 nuclear receptor coactivator 3 gene DOID:1612 breast cancer ISO RGD:620109 D RGD:9068941 20210122 RGD PMID:20051871|REF_RGD_ID:5688283 40915674 NCOA3 nuclear receptor coactivator 3 gene DOID:1749 squamous cell carcinoma ISO RGD:1344181 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:20852035 40915674 NCOA3 nuclear receptor coactivator 3 gene DOID:2234 focal epilepsy ISO RGD:1344181 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 40915674 NCOA3 nuclear receptor coactivator 3 gene DOID:299 adenocarcinoma ISO RGD:1344181 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:20852035 40915674 NCOA3 nuclear receptor coactivator 3 gene DOID:3069 malignant astrocytoma ISO RGD:1344181 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:24680642 40915674 NCOA3 nuclear receptor coactivator 3 gene DOID:3459 breast carcinoma severity ISO RGD:1344181 D RGD:9068941 20210122 RGD protein:increased expression:breast (human) PMID:12725419|REF_RGD_ID:2289908 40915674 NCOA3 nuclear receptor coactivator 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344181 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:20852035 40915674 NCOA3 nuclear receptor coactivator 3 gene DOID:630 genetic disease ISO RGD:1344181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40915674 NCOA3 nuclear receptor coactivator 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344181 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:11927493|PMID:12237244 40915674 NCOA3 nuclear receptor coactivator 3 gene DOID:9004389 Bone Neoplasms ISO RGD:1344181 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:24134957 40915674 NCOA3 nuclear receptor coactivator 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1344181 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:20332317 40915674 NCOA3 nuclear receptor coactivator 3 gene DOID:9970 obesity ISO RGD:1344181 D RGD:9068941 20210122 RGD DNA:polymorphism:CDS:C-terminus polyglutamine repeat, combination of long polyglutamine repeat in NCOA3 and homozygous A1/A1 Progesterone Receptor genotype associated with obesity in 301 postmenopausal women with breast cancer PMID:14557830|REF_RGD_ID:1642050 40915687 LMO2 LIM domain only 2 gene DOID:0080600 COVID-19 ISO RGD:1316093 D RGD:9068941 20210115 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 40915687 LMO2 LIM domain only 2 gene DOID:1059 intellectual disability ISO RGD:1316093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 40915687 LMO2 LIM domain only 2 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1316093 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:19246562|PMID:2034676|PMID:24394663 40915687 LMO2 LIM domain only 2 gene DOID:630 genetic disease ISO RGD:1316093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40915687 LMO2 LIM domain only 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316093 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 40915687 LMO2 LIM domain only 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1316094 D RGD:9068941 20220825 MouseDO OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 40915725 LOC119867566 small nucleolar RNA SNORA63 gene DOID:0111546 Currarino syndrome ISO RGD:12738314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 40915778 LOC119872073 small nucleolar RNA SNORD111 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 40915844 LOC119872409 small nucleolar RNA SNORD60 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1344326 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 40915844 LOC119872409 small nucleolar RNA SNORD60 gene DOID:2871 endometrial carcinoma ISO RGD:1344326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 40915857 ZBED3 zinc finger BED-type containing 3 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1320128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 40915857 ZBED3 zinc finger BED-type containing 3 gene DOID:630 genetic disease ISO RGD:1320128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40915857 ZBED3 zinc finger BED-type containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40915963 TCL1A TCL1 family AKT coactivator A gene DOID:0080600 COVID-19 ISO RGD:1318064 D RGD:9068941 20210115 RGD mRNA:decreased expression:memory B cells (human) PMID:32377375|REF_RGD_ID:32716422 40915963 TCL1A TCL1 family AKT coactivator A gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1318064 D RGD:9068941 20210115 RGD PMID:28302172|REF_RGD_ID:32716376 40915963 TCL1A TCL1 family AKT coactivator A gene DOID:2224 essential thrombocythemia ISO RGD:1318064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 40915963 TCL1A TCL1 family AKT coactivator A gene DOID:4971 myelofibrosis ISO RGD:1318064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis 40915963 TCL1A TCL1 family AKT coactivator A gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1318064 D RGD:9068941 20210115 RGD mRNA:increased expression:peripheral blood lymphocyte (human) PMID:10077617|REF_RGD_ID:1599360 40915963 TCL1A TCL1 family AKT coactivator A gene DOID:630 genetic disease ISO RGD:1318064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40915963 TCL1A TCL1 family AKT coactivator A gene DOID:9004189 T-Cell Lymphoma 1A ISO RGD:1318064 D RGD:7240710 20221123 OMIM 40915963 TCL1A TCL1 family AKT coactivator A gene DOID:9119 acute myeloid leukemia ISO RGD:1318064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 40916042 LOC119863999 hornerin-like gene DOID:0111940 immunodeficiency 42 ISO RGD:1603472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 40916042 LOC119863999 hornerin-like gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 40916042 LOC119863999 hornerin-like gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603472 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 40916042 LOC119863999 hornerin-like gene DOID:1540 parathyroid carcinoma ISO RGD:1603472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 40916042 LOC119863999 hornerin-like gene DOID:5812 MHC class II deficiency ISO RGD:1603472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 40916042 LOC119863999 hornerin-like gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1603472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 40916042 LOC119863999 hornerin-like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 40916091 LOC119867998 small nucleolar RNA SNORD70 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:12738266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:23579436|PMID:26387786 40916135 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:0050160 inhalation anthrax disease_progression ISO RGD:1316123 D RGD:9068941 20210122 RGD PMID:21124994|REF_RGD_ID:5135283 40916135 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:0080600 COVID-19 ISO RGD:1316122 D RGD:9068941 20210122 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 40916135 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:0081267 graft-versus-host disease ISO RGD:1316123 D RGD:9068941 20210122 RGD protein:increased expression:intestine, liver, lung PMID:19218194|REF_RGD_ID:5135435 40916135 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:10608 celiac disease ISO RGD:1316122 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 40916135 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1316122 D RGD:9068941 20210122 RGD protein:increased expression:serum PMID:17550373|REF_RGD_ID:5135438 40916135 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:13949 interstitial cystitis ISO RGD:1316122 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:18957084 40916135 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:2799 bronchiolitis obliterans ISO RGD:1316122 D RGD:9068941 20210122 RGD protein:increased expression:respiratory system fluid/secretion PMID:12097412|REF_RGD_ID:5135451 40916135 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:2799 bronchiolitis obliterans ISO RGD:1316123 D RGD:9068941 20210122 RGD PMID:12097412|REF_RGD_ID:5135451 40916135 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1316123 D RGD:9068941 20210122 RGD PMID:32553273|REF_RGD_ID:32716426 40916135 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1316122 D RGD:9068941 20210122 RGD protein:increased expression:sputum PMID:17925429|REF_RGD_ID:5135436 40916135 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1316122 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:24979617 40916135 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:630 genetic disease ISO RGD:1316122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40916135 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:684 hepatocellular carcinoma ISO RGD:1316123 D RGD:9068941 20210423 RGD mRNA:increased expression:liver (mouse) PMID:26569409|REF_RGD_ID:11344640 40916135 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1316123 D RGD:9068941 20210122 RGD PMID:14991597|REF_RGD_ID:5135448 40916135 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:874 bacterial pneumonia ISO RGD:1316123 D RGD:9068941 20210122 RGD PMID:15618188|REF_RGD_ID:5135459 40916135 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1316122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 40916135 CXCL11 C-X-C motif chemokine ligand 11 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1316122 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 40916232 REX1BD required for excision 1-B domain containing gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1605988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 40916246 MBLAC1 metallo-beta-lactamase domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 40916246 MBLAC1 metallo-beta-lactamase domain containing 1 gene DOID:630 genetic disease ISO RGD:1602638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40916250 GPR148 G protein-coupled receptor 148 gene DOID:5419 schizophrenia ISO RGD:1347773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40916250 GPR148 G protein-coupled receptor 148 gene DOID:630 genetic disease ISO RGD:1347773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40916250 GPR148 G protein-coupled receptor 148 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40916322 CHAC1 ChaC glutathione specific gamma-glutamylcyclotransferase 1 gene DOID:10283 prostate cancer ISO RGD:1604291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 40916322 CHAC1 ChaC glutathione specific gamma-glutamylcyclotransferase 1 gene DOID:2717 Bloom syndrome ISO RGD:1604291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 40916322 CHAC1 ChaC glutathione specific gamma-glutamylcyclotransferase 1 gene DOID:630 genetic disease ISO RGD:1604291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40916322 CHAC1 ChaC glutathione specific gamma-glutamylcyclotransferase 1 gene DOID:9256 colorectal cancer ISO RGD:1604291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 40916355 COX16 cytochrome c oxidase assembly factor COX16 gene DOID:630 genetic disease ISO RGD:1321882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40916355 COX16 cytochrome c oxidase assembly factor COX16 gene DOID:9008899 Mitochondrial Complex IV Deficiency, Nuclear Type 22 ISO RGD:1321882 D RGD:7240710 20210616 OMIM 40916355 COX16 cytochrome c oxidase assembly factor COX16 gene DOID:9008899 Mitochondrial Complex IV Deficiency, Nuclear Type 22 ISO RGD:1321882 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 22 PMID:33169484 40916372 LOC119870868 zinc finger protein 324A-like gene DOID:630 genetic disease ISO RGD:1603828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40916455 LOC119873090 small nucleolar RNA SNORD113/SNORD114 family gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602508 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 40916465 LOC119868664 small nucleolar RNA SNORA35 gene DOID:12849 autistic disorder ISO RGD:12738316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40916465 LOC119868664 small nucleolar RNA SNORA35 gene DOID:5419 schizophrenia ISO RGD:12738316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40916586 LOC119867571 small nucleolar RNA SNORD66 gene DOID:0111546 Currarino syndrome ISO RGD:1602543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 40916587 MTLN mitoregulin gene DOID:0050795 cone dystrophy ISO RGD:2303856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:28041643 40916587 MTLN mitoregulin gene DOID:0060041 autism spectrum disorder ISO RGD:2303856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:24807792|PMID:25255310 40916587 MTLN mitoregulin gene DOID:0111112 nephronophthisis 1 ISO RGD:2303856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1 PMID:10839884|PMID:10980528 40916725 CRACD capping protein inhibiting regulator of actin dynamics gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:2303430 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 40916725 CRACD capping protein inhibiting regulator of actin dynamics gene DOID:630 genetic disease ISO RGD:2303430 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40916771 LOC106557812 immunoglobulin lambda variable 1-40-like gene DOID:0080600 COVID-19 ISO RGD:1344651 D RGD:9068941 20210910 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 40916771 LOC106557812 immunoglobulin lambda variable 1-40-like gene DOID:12849 autistic disorder ISO RGD:1344651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40916771 LOC106557812 immunoglobulin lambda variable 1-40-like gene DOID:5419 schizophrenia ISO RGD:1344651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40916983 LOC119873119 small nucleolar RNA SNORD113/SNORD114 family gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602511 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 40917004 ZFP57 ZFP57 zinc finger protein gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:1344217 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive PMID:18414213|PMID:25741868|PMID:28492532|PMID:30315371|PMID:31064016 40917004 ZFP57 ZFP57 zinc finger protein gene DOID:11372 megacolon ISO RGD:1344217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 40917004 ZFP57 ZFP57 zinc finger protein gene DOID:630 genetic disease ISO RGD:1344217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 40917004 ZFP57 ZFP57 zinc finger protein gene DOID:9004783 Transient Neonatal Diabetes Mellitus, 1 ISO RGD:1344217 D RGD:7240710 20210114 OMIM 40917004 ZFP57 ZFP57 zinc finger protein gene DOID:9004783 Transient Neonatal Diabetes Mellitus, 1 ISO RGD:1344217 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: 6q24-RELATED DIABETES MELLITUS | ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 1 PMID:18197189|PMID:18414213|PMID:18622393|PMID:23499433|PMID:23748067|PMID:25741868|PMID:28492532|PMID:30315371|PMID:31064016 40917004 ZFP57 ZFP57 zinc finger protein gene DOID:9351 diabetes mellitus ISO RGD:1344217 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18414213|PMID:23748067|PMID:25741868|PMID:28492532|PMID:30315371|PMID:31064016 40917021 LOC119871335 small nucleolar RNA SNORD115 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:6481499 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 40917021 LOC119871335 small nucleolar RNA SNORD115 gene DOID:12849 autistic disorder ISO RGD:6481499 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 40917021 LOC119871335 small nucleolar RNA SNORD115 gene DOID:1932 Angelman syndrome ISO RGD:6481499 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:25099823|PMID:25212744|PMID:28492532 40917021 LOC119871335 small nucleolar RNA SNORD115 gene DOID:5419 schizophrenia ISO RGD:6481499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40917065 LCMT2 leucine carboxyl methyltransferase 2 gene DOID:2717 Bloom syndrome ISO RGD:1314097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 40917065 LCMT2 leucine carboxyl methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1314097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40917065 LCMT2 leucine carboxyl methyltransferase 2 gene DOID:9256 colorectal cancer ISO RGD:1314097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 40917129 XAF1 XIAP associated factor 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1606793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 40917129 XAF1 XIAP associated factor 1 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1606793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 40917129 XAF1 XIAP associated factor 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1606793 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 40917129 XAF1 XIAP associated factor 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1606793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 40917129 XAF1 XIAP associated factor 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1606793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 40917129 XAF1 XIAP associated factor 1 gene DOID:3070 high grade glioma ISO RGD:1606793 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:28122345 40917129 XAF1 XIAP associated factor 1 gene DOID:6000 congestive heart failure ISO RGD:1606793 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 40917129 XAF1 XIAP associated factor 1 gene DOID:630 genetic disease ISO RGD:1606793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40917129 XAF1 XIAP associated factor 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606793 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:17087954 40917129 XAF1 XIAP associated factor 1 gene DOID:9001488 Human Influenza ISO RGD:1606793 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 40917129 XAF1 XIAP associated factor 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1606793 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:15843754|PMID:17087954 40917129 XAF1 XIAP associated factor 1 gene DOID:9006205 Animal Disease Models ISO RGD:1606793 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 40917129 XAF1 XIAP associated factor 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1606793 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:17570219 40917159 LOC119873108 small nucleolar RNA SNORD113/SNORD114 family gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 40917195 LOC119880043 U1 spliceosomal RNA gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1349295 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 40917195 LOC119880043 U1 spliceosomal RNA gene DOID:0080600 COVID-19 ISO RGD:1349295 D RGD:9068941 20211224 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 40917197 LOC119873060 U1 spliceosomal RNA gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:1350487 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 40917197 LOC119873060 U1 spliceosomal RNA gene DOID:0080600 COVID-19 ISO RGD:1350487 D RGD:9068941 20220915 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 40917197 LOC119873060 U1 spliceosomal RNA gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1350487 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 40917197 LOC119873060 U1 spliceosomal RNA gene DOID:5419 schizophrenia ISO RGD:1350487 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40917207 SCRT2 scratch family transcriptional repressor 2 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1348701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:20206331|PMID:22824638|PMID:24239381|PMID:25462087|PMID:28492532 40917207 SCRT2 scratch family transcriptional repressor 2 gene DOID:630 genetic disease ISO RGD:1348701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40917207 SCRT2 scratch family transcriptional repressor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40917207 SCRT2 scratch family transcriptional repressor 2 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:1348701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532 40917372 LOC119879597 zinc finger protein 154-like gene DOID:630 genetic disease ISO RGD:1349269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40917466 DCBLD1 discoidin, CUB and LCCL domain containing 1 gene DOID:0060163 body dysmorphic disorder ISO RGD:1353460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 40917466 DCBLD1 discoidin, CUB and LCCL domain containing 1 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1353460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 40917466 DCBLD1 discoidin, CUB and LCCL domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1353460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 40917466 DCBLD1 discoidin, CUB and LCCL domain containing 1 gene DOID:10907 microcephaly ISO RGD:1353460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 40917466 DCBLD1 discoidin, CUB and LCCL domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1353460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 40917466 DCBLD1 discoidin, CUB and LCCL domain containing 1 gene DOID:1826 epilepsy ISO RGD:1353460 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 40917466 DCBLD1 discoidin, CUB and LCCL domain containing 1 gene DOID:1909 melanoma ISO RGD:1353460 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 40917466 DCBLD1 discoidin, CUB and LCCL domain containing 1 gene DOID:630 genetic disease ISO RGD:1353460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40917466 DCBLD1 discoidin, CUB and LCCL domain containing 1 gene DOID:9000495 Tremor ISO RGD:1353460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 40917506 LOC119871533 serine protease inhibitor Kazal-type 9-like gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603723 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 40917506 LOC119871533 serine protease inhibitor Kazal-type 9-like gene DOID:630 genetic disease ISO RGD:1603723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40917506 LOC119871533 serine protease inhibitor Kazal-type 9-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40917506 LOC119871533 serine protease inhibitor Kazal-type 9-like gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603723 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 40917524 CHPF2 chondroitin polymerizing factor 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1604004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 40917524 CHPF2 chondroitin polymerizing factor 2 gene DOID:2843 long QT syndrome ISO RGD:1604004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 40917524 CHPF2 chondroitin polymerizing factor 2 gene DOID:630 genetic disease ISO RGD:1604004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40917665 LOC119866031 small nucleolar RNA SNORA75 gene DOID:0080600 COVID-19 ISO RGD:1602778 D RGD:9068941 20211224 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 40917694 PPP1R3G protein phosphatase 1 regulatory subunit 3G gene DOID:630 genetic disease ISO RGD:1346810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40917837 AMPD3 adenosine monophosphate deaminase 3 gene DOID:2661 myoepithelioma ISO RGD:732010 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 40917837 AMPD3 adenosine monophosphate deaminase 3 gene DOID:630 genetic disease ISO RGD:732010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40917837 AMPD3 adenosine monophosphate deaminase 3 gene DOID:9006043 Erythrocyte Amp Deaminase Deficiency ISO RGD:732010 D RGD:7240710 20210113 OMIM 40917837 AMPD3 adenosine monophosphate deaminase 3 gene DOID:9006043 Erythrocyte Amp Deaminase Deficiency ISO RGD:732010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythrocyte AMP deaminase deficiency PMID:25158045|PMID:25741868|PMID:28492532|PMID:7881427|PMID:8004104 40917842 LOC119872739 small Cajal body-specific RNA 4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602768 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 40917880 LOC119872411 small nucleolar RNA SNORD45 gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:1342927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:28492532 40918146 LOC119871370 small nucleolar RNA SNORD109A gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1605815 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 40918146 LOC119871370 small nucleolar RNA SNORD109A gene DOID:12849 autistic disorder ISO RGD:1605815 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 40918146 LOC119871370 small nucleolar RNA SNORD109A gene DOID:1932 Angelman syndrome ISO RGD:1605815 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:25099823|PMID:25212744|PMID:28492532 40918146 LOC119871370 small nucleolar RNA SNORD109A gene DOID:5419 schizophrenia ISO RGD:1605815 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40918198 C13H8orf82 chromosome 13 C8orf82 homolog gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1606363 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:12952869|PMID:28492532 40918198 C13H8orf82 chromosome 13 C8orf82 homolog gene DOID:630 genetic disease ISO RGD:1606363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40918215 LOC119872072 small nucleolar RNA SNORD111 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1626520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 40918231 LOC119868754 heat shock transcription factor, Y-linked-like gene DOID:12849 autistic disorder ISO RGD:1348679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40918364 PTCHD3 patched domain containing 3 gene DOID:630 genetic disease ISO RGD:1603484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40918509 SPTSSA serine palmitoyltransferase small subunit A gene DOID:630 genetic disease ISO RGD:1350858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40918509 SPTSSA serine palmitoyltransferase small subunit A gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350858 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 40918519 KCTD7 potassium channel tetramerization domain containing 7 gene DOID:0111446 progressive myoclonus epilepsy 3 ISO RGD:1314738 D RGD:7240710 20210113 OMIM 40918519 KCTD7 potassium channel tetramerization domain containing 7 gene DOID:0111446 progressive myoclonus epilepsy 3 ISO RGD:1314738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 | ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS PMID:16199547|PMID:17455289|PMID:17576681|PMID:18414213|PMID:22606975|PMID:22638565|PMID:22693283|PMID:22748208|PMID:25060828|PMID:25326635|PMID:25533962|PMID:25640679|PMID:25741868|PMID:25976102|PMID:26467025|PMID:26795593|PMID:27742667|PMID:28492532|PMID:29056246|PMID:29302074|PMID:29619247|PMID:29655203|PMID:30295347|PMID:30500434|PMID:30776697|PMID:30825425|PMID:30919572|PMID:31130284|PMID:31216804|PMID:31965297|PMID:32412666|PMID:32581362|PMID:34866617|PMID:9536098 40918519 KCTD7 potassium channel tetramerization domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1314738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 40918519 KCTD7 potassium channel tetramerization domain containing 7 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1314738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:22748208|PMID:25741868|PMID:25976102|PMID:27742667|PMID:28492532|PMID:30295347|PMID:31130284 40918519 KCTD7 potassium channel tetramerization domain containing 7 gene DOID:14755 argininosuccinic aciduria ISO RGD:1314738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:28492532 40918519 KCTD7 potassium channel tetramerization domain containing 7 gene DOID:1826 epilepsy ISO RGD:1314738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:26467025|PMID:28492532 40918519 KCTD7 potassium channel tetramerization domain containing 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 40918519 KCTD7 potassium channel tetramerization domain containing 7 gene DOID:630 genetic disease ISO RGD:1314738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:22693283|PMID:22748208|PMID:25060828|PMID:25533962|PMID:25741868|PMID:25976102|PMID:26467025|PMID:26795593|PMID:27742667|PMID:28492532|PMID:29056246|PMID:30295347|PMID:30825425|PMID:30919572|PMID:31130284|PMID:32412666|PMID:32581362 40918519 KCTD7 potassium channel tetramerization domain containing 7 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1314738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy 40918519 KCTD7 potassium channel tetramerization domain containing 7 gene DOID:9001793 Generalized Epilepsy ISO RGD:1314738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532|PMID:30295347|PMID:32581362 40918524 LOC119873506 U6atac minor spliceosomal RNA gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:2302446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 40918524 LOC119873506 U6atac minor spliceosomal RNA gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:2302446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 40918524 LOC119873506 U6atac minor spliceosomal RNA gene DOID:0080324 tuberous sclerosis 1 ISO RGD:2302446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 40918524 LOC119873506 U6atac minor spliceosomal RNA gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:2302446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 40918524 LOC119873506 U6atac minor spliceosomal RNA gene DOID:0081097 Rafiq syndrome ISO RGD:2302446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 40918524 LOC119873506 U6atac minor spliceosomal RNA gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:2302446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 40918524 LOC119873506 U6atac minor spliceosomal RNA gene DOID:3652 Leigh disease ISO RGD:2302446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 40918538 PRR18 proline rich 18 gene DOID:630 genetic disease ISO RGD:1601804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40918553 PRPF40A pre-mRNA processing factor 40 homolog A gene DOID:630 genetic disease ISO RGD:1322844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40918565 PLAC9 placenta associated 9 gene DOID:630 genetic disease ISO RGD:1315403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40918565 PLAC9 placenta associated 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40918586 FAM106B family with sequence similarity 106 member B gene DOID:12849 autistic disorder ISO RGD:1604137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40918657 LOC119881605 syncytin-1-like gene DOID:630 genetic disease ISO RGD:1606632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40918675 DTYMK deoxythymidylate kinase gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1320047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 40918675 DTYMK deoxythymidylate kinase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1320047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 40918675 DTYMK deoxythymidylate kinase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1320047 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 40918675 DTYMK deoxythymidylate kinase gene DOID:1059 intellectual disability ISO RGD:1320047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 40918675 DTYMK deoxythymidylate kinase gene DOID:630 genetic disease ISO RGD:1320047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40918675 DTYMK deoxythymidylate kinase gene DOID:9000359 NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY ISO RGD:1320047 D RGD:7240710 20220629 OMIM 40918675 DTYMK deoxythymidylate kinase gene DOID:9000359 NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY ISO RGD:1320047 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with progressive microcephaly PMID:31271740|PMID:34918187|PMID:34926941 40918675 DTYMK deoxythymidylate kinase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1320047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 40918675 DTYMK deoxythymidylate kinase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1309614 D RGD:9068941 20210122 RGD protein:increased activity:tumor (rat) PMID:6244089|REF_RGD_ID:5133686 40918686 LOC119864357 small nucleolar RNA SNORD28 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1343428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 40918686 LOC119864357 small nucleolar RNA SNORD28 gene DOID:1059 intellectual disability ISO RGD:1343428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 40918718 C2CD4D C2 calcium dependent domain containing 4D gene DOID:0111940 immunodeficiency 42 ISO RGD:3563711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 40918718 C2CD4D C2 calcium dependent domain containing 4D gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:3563711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 40918718 C2CD4D C2 calcium dependent domain containing 4D gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:3563711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 40918718 C2CD4D C2 calcium dependent domain containing 4D gene DOID:1540 parathyroid carcinoma ISO RGD:3563711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 40918718 C2CD4D C2 calcium dependent domain containing 4D gene DOID:5812 MHC class II deficiency ISO RGD:3563711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 40918718 C2CD4D C2 calcium dependent domain containing 4D gene DOID:630 genetic disease ISO RGD:3563711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40918718 C2CD4D C2 calcium dependent domain containing 4D gene DOID:9253 gastrointestinal stromal tumor ISO RGD:3563711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 40918749 ASB1 ankyrin repeat and SOCS box containing 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1321850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 40918749 ASB1 ankyrin repeat and SOCS box containing 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1321850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 40918749 ASB1 ankyrin repeat and SOCS box containing 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1321850 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 40918749 ASB1 ankyrin repeat and SOCS box containing 1 gene DOID:1059 intellectual disability ISO RGD:1321850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 40918749 ASB1 ankyrin repeat and SOCS box containing 1 gene DOID:630 genetic disease ISO RGD:1321850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40918749 ASB1 ankyrin repeat and SOCS box containing 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1321850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 40918811 LOC119863940 zinc finger protein 354B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1346578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 40918811 LOC119863940 zinc finger protein 354B gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1346578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 40918811 LOC119863940 zinc finger protein 354B gene DOID:0112103 Sotos syndrome 1 ISO RGD:1346578 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 40918811 LOC119863940 zinc finger protein 354B gene DOID:630 genetic disease ISO RGD:1346578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40918850 LOC119866038 small nucleolar RNA SNORD20 gene DOID:0060476 Perlman syndrome ISO RGD:1351179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 40918850 LOC119866038 small nucleolar RNA SNORD20 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1351179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 40918851 LIN7B lin-7 homolog B, crumbs cell polarity complex component gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:734321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 40918851 LIN7B lin-7 homolog B, crumbs cell polarity complex component gene DOID:0111076 progressive familial heart block type IB ISO RGD:734321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 40918851 LIN7B lin-7 homolog B, crumbs cell polarity complex component gene DOID:630 genetic disease ISO RGD:734321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40918910 SERP1 stress associated endoplasmic reticulum protein 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:1601762 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 40918910 SERP1 stress associated endoplasmic reticulum protein 1 gene DOID:630 genetic disease ISO RGD:1601762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40918924 TSGA13 testis specific 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 40918924 TSGA13 testis specific 13 gene DOID:630 genetic disease ISO RGD:1314383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40918987 CAVIN2 caveolae associated protein 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1348108 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:25792468 40918987 CAVIN2 caveolae associated protein 2 gene DOID:630 genetic disease ISO RGD:1348108 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40918987 CAVIN2 caveolae associated protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40919027 GPX4 glutathione peroxidase 4 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:736049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 40919027 GPX4 glutathione peroxidase 4 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:736049 D RGD:9068941 20220630 RGD DNA:SNP:3' utr:c.718T>C (human) PMID:18850177|REF_RGD_ID:152998895 40919027 GPX4 glutathione peroxidase 4 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:736049 D RGD:9068941 20220623 RGD protein:increased expression:oral cavity (human) PMID:28653098|REF_RGD_ID:152995473 40919027 GPX4 glutathione peroxidase 4 gene DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type ISO RGD:736049 D RGD:7240710 20210113 OMIM 40919027 GPX4 glutathione peroxidase 4 gene DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type ISO RGD:736049 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Sedaghatian type PMID:22529034|PMID:24706940|PMID:25741868|PMID:28492532 40919027 GPX4 glutathione peroxidase 4 gene DOID:10603 glucose intolerance ISO RGD:736049 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:26042203 40919027 GPX4 glutathione peroxidase 4 gene DOID:11383 cryptorchidism ISO RGD:736049 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:26050606 40919027 GPX4 glutathione peroxidase 4 gene DOID:12336 male infertility ISO RGD:736049 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:19417079|PMID:19744930 40919027 GPX4 glutathione peroxidase 4 gene DOID:219 colon cancer disease_progression ISO RGD:736049 D RGD:9068941 20220630 RGD mRNA, protein:increased expression:colon (human) PMID:21868509|REF_RGD_ID:152995496 40919027 GPX4 glutathione peroxidase 4 gene DOID:3717 gastric adenocarcinoma susceptibility ISO RGD:736049 D RGD:9068941 20220630 RGD mRNA:decreased expression:stomach, erythrocyte, lymphocyte (human) PMID:27957666|REF_RGD_ID:152998894 40919027 GPX4 glutathione peroxidase 4 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:736049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 40919027 GPX4 glutathione peroxidase 4 gene DOID:5339 cyclic hematopoiesis ISO RGD:736049 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 40919027 GPX4 glutathione peroxidase 4 gene DOID:6000 congestive heart failure ISO RGD:736049 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 40919027 GPX4 glutathione peroxidase 4 gene DOID:630 genetic disease ISO RGD:736049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 40919027 GPX4 glutathione peroxidase 4 gene DOID:9000784 Fibrosis ISO RGD:736049 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:26042203 40919027 GPX4 glutathione peroxidase 4 gene DOID:9001191 Cadmium Poisoning ISO RGD:736049 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:20643113 40919027 GPX4 glutathione peroxidase 4 gene DOID:9004994 Embryo Loss ISO RGD:736049 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:12566075 40919027 GPX4 glutathione peroxidase 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736049 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:18850177 40919027 GPX4 glutathione peroxidase 4 gene DOID:9008939 Breast Neoplasms ISO RGD:736049 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:17634480 40919027 GPX4 glutathione peroxidase 4 gene DOID:9256 colorectal cancer susceptibility ISO RGD:736049 D RGD:9068941 20220623 RGD DNA:silent mutation:CDS: (rs713041) (human) PMID:20378690|REF_RGD_ID:152995451 40919027 GPX4 glutathione peroxidase 4 gene DOID:9452 fatty liver disease ISO RGD:736049 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:26042203 40919070 LOC119864110 interferon-induced transmembrane protein 1-like gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1352409 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 40919070 LOC119864110 interferon-induced transmembrane protein 1-like gene DOID:0080600 COVID-19 ISO RGD:1352409 D RGD:9068941 20230427 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 40919070 LOC119864110 interferon-induced transmembrane protein 1-like gene DOID:0111969 immunodeficiency 39 ISO RGD:1352409 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 40919070 LOC119864110 interferon-induced transmembrane protein 1-like gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1352409 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 40919070 LOC119864110 interferon-induced transmembrane protein 1-like gene DOID:630 genetic disease ISO RGD:1352409 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40919078 RNF187 ring finger protein 187 gene DOID:1540 parathyroid carcinoma ISO RGD:1606704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 40919078 RNF187 ring finger protein 187 gene DOID:630 genetic disease ISO RGD:1606704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40919078 RNF187 ring finger protein 187 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 40919110 LOC119868927 pulmonary surfactant-associated protein A-like gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1346707 D RGD:7240710 20230505 OMIM 40919110 LOC119868927 pulmonary surfactant-associated protein A-like gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1346707 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:16292672|PMID:17580966|PMID:19100526|PMID:20466729|PMID:22853774|PMID:23056344|PMID:24033266|PMID:25553246|PMID:25741868|PMID:28492532|PMID:32855221 40919110 LOC119868927 pulmonary surfactant-associated protein A-like gene DOID:12716 newborn respiratory distress syndrome ISO RGD:1346707 D RGD:9068941 20230330 RGD DNA:polymorphism (human) PMID:9475280|REF_RGD_ID:4143445 40919110 LOC119868927 pulmonary surfactant-associated protein A-like gene DOID:3770 pulmonary fibrosis ISO RGD:1346707 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:19100526 40919110 LOC119868927 pulmonary surfactant-associated protein A-like gene DOID:630 genetic disease ISO RGD:1346707 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25553246|PMID:25741868|PMID:28492532|PMID:32855221 40919152 SRR serine racemase gene DOID:3910 lung adenocarcinoma ISO RGD:1352406 D RGD:9068941 20211217 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 40919152 SRR serine racemase gene DOID:5419 schizophrenia ISO RGD:1550738 D RGD:9068941 20220825 MouseDO OMIM:181500 40919152 SRR serine racemase gene DOID:630 genetic disease ISO RGD:1352406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40919152 SRR serine racemase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352406 D RGD:9068941 20211217 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 40919152 SRR serine racemase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40919152 SRR serine racemase gene DOID:9006205 Animal Disease Models ISO RGD:1352406 D RGD:9068941 20211217 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 40919178 ZXDB zinc finger X-linked duplicated B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 40919178 ZXDB zinc finger X-linked duplicated B gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1351401 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:9383023 40919178 ZXDB zinc finger X-linked duplicated B gene DOID:12849 autistic disorder ISO RGD:1351401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40919178 ZXDB zinc finger X-linked duplicated B gene DOID:630 genetic disease ISO RGD:1351401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40919265 LOC119881526 pancreatic alpha-amylase gene DOID:12849 autistic disorder ISO RGD:1319648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40919265 LOC119881526 pancreatic alpha-amylase gene DOID:1826 epilepsy ISO RGD:1319648 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 40919265 LOC119881526 pancreatic alpha-amylase gene DOID:630 genetic disease ISO RGD:1319648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40919320 CISD1 CDGSH iron sulfur domain 1 gene DOID:630 genetic disease ISO RGD:1319915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40919389 SRY sex determining region Y gene DOID:0111761 46,XX sex reversal 1 ISO RGD:737205 D RGD:7240710 20210113 OMIM 40919389 SRY sex determining region Y gene DOID:0111761 46,XX sex reversal 1 ISO RGD:737205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XX sex reversal 1 PMID:25741868 40919389 SRY sex determining region Y gene DOID:0111778 46,XY sex reversal 1 ISO RGD:737205 D RGD:7240710 20210113 OMIM 40919389 SRY sex determining region Y gene DOID:0111778 46,XY sex reversal 1 ISO RGD:737205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 1 PMID:10670762|PMID:10843173|PMID:10852465|PMID:12107262|PMID:12409269|PMID:12793612|PMID:1339396|PMID:1415266|PMID:1438307|PMID:1483689|PMID:1570829|PMID:1619028|PMID:1639410|PMID:16510537|PMID:16675314|PMID:1734522|PMID:1956279|PMID:20528776|PMID:2247149|PMID:2247151|PMID:2401216|PMID:25741868|PMID:28492532|PMID:28787711|PMID:7718558|PMID:7985018|PMID:7987333|PMID:8019555|PMID:8105086|PMID:8257986|PMID:8353496|PMID:9150734|PMID:9443877|PMID:9450909|PMID:9521592 40919389 SRY sex determining region Y gene DOID:12849 autistic disorder ISO RGD:737205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40919389 SRY sex determining region Y gene DOID:14448 46,XY sex reversal ISO RGD:737205 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:27576690 40919389 SRY sex determining region Y gene DOID:14448 46,XY sex reversal ISO RGD:737205 D RGD:9068941 20210115 RGD PMID:2247151|PMID:8257986|REF_RGD_ID:1598780|REF_RGD_ID:1599179 40919389 SRY sex determining region Y gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:737205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development PMID:25741868|PMID:29378242|PMID:8353496 40919389 SRY sex determining region Y gene DOID:9006530 46,Xy True Hermaphroditism, Sry-Related ISO RGD:737205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XY true hermaphroditism, SRY-related PMID:12793612|PMID:1483689|PMID:1570829|PMID:1734522|PMID:1956279|PMID:2247149|PMID:8257986|PMID:9450909 40919420 LOC119864345 U1 spliceosomal RNA gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:7249811 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 40919420 LOC119864345 U1 spliceosomal RNA gene DOID:5419 schizophrenia ISO RGD:7249811 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40919426 LOC119868444 P antigen family member 3-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 40919426 LOC119868444 P antigen family member 3-like gene DOID:12849 autistic disorder ISO RGD:1343229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40919443 ARL5A ADP ribosylation factor like GTPase 5A gene DOID:0110928 nemaline myopathy 2 ISO RGD:1346010 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25205138|PMID:28492532 40919443 ARL5A ADP ribosylation factor like GTPase 5A gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1346010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 40919443 ARL5A ADP ribosylation factor like GTPase 5A gene DOID:630 genetic disease ISO RGD:1346010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40919451 LOC119868547 synaptonemal complex protein 3-like gene DOID:0050777 Joubert syndrome ISO RGD:1345371 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 40919451 LOC119868547 synaptonemal complex protein 3-like gene DOID:12849 autistic disorder ISO RGD:1345371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40919451 LOC119868547 synaptonemal complex protein 3-like gene DOID:630 genetic disease ISO RGD:1345371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40919451 LOC119868547 synaptonemal complex protein 3-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40919513 LOC119872424 small Cajal body-specific RNA 2 gene DOID:12849 autistic disorder ISO RGD:1602773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40919518 SMIM10L2A small integral membrane protein 10 like 2A gene DOID:12849 autistic disorder ISO RGD:1605492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40919525 C27H12orf57 chromosome 27 C12orf57 homolog gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1606749 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 40919525 C27H12orf57 chromosome 27 C12orf57 homolog gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1606749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 40919525 C27H12orf57 chromosome 27 C12orf57 homolog gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1606749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 40919525 C27H12orf57 chromosome 27 C12orf57 homolog gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1606749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 40919525 C27H12orf57 chromosome 27 C12orf57 homolog gene DOID:0111621 Temtamy syndrome ISO RGD:1606749 D RGD:7240710 20210114 OMIM 40919525 C27H12orf57 chromosome 27 C12orf57 homolog gene DOID:0111621 Temtamy syndrome ISO RGD:1606749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:16199547|PMID:17576681|PMID:21937992|PMID:23453665|PMID:23453666|PMID:23633300|PMID:24798461|PMID:25326635|PMID:25558065|PMID:25741868|PMID:28097321|PMID:28454995|PMID:28492532|PMID:28600779|PMID:29269699|PMID:29383837|PMID:9536098 40919525 C27H12orf57 chromosome 27 C12orf57 homolog gene DOID:1059 intellectual disability ISO RGD:1606749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 40919525 C27H12orf57 chromosome 27 C12orf57 homolog gene DOID:630 genetic disease ISO RGD:1606749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 40919525 C27H12orf57 chromosome 27 C12orf57 homolog gene DOID:9002947 Aicardi-Goutieres Syndrome 9 ISO RGD:1606749 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 PMID:16547514|PMID:25741868|PMID:33230297|PMID:7667090 40919525 C27H12orf57 chromosome 27 C12orf57 homolog gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1606749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 40919525 C27H12orf57 chromosome 27 C12orf57 homolog gene DOID:9008086 Developmental Disabilities ISO RGD:1606749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:21937992|PMID:23453665|PMID:23453666|PMID:23633300|PMID:24798461|PMID:25326635|PMID:25558065|PMID:25741868|PMID:28097321|PMID:28454995|PMID:28492532|PMID:28600779|PMID:29383837 40919658 TEX22 testis expressed 22 gene DOID:630 genetic disease ISO RGD:5132216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40919688 IPMK inositol polyphosphate multikinase gene DOID:630 genetic disease ISO RGD:737355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40919767 MYH6 myosin heavy chain 6 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:737147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:16199547|PMID:25741868|PMID:28492532|PMID:28991257|PMID:29132927 40919767 MYH6 myosin heavy chain 6 gene DOID:0050451 Brugada syndrome ISO RGD:737147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:23861362|PMID:24033266|PMID:25741868|PMID:27789736|PMID:28492532|PMID:29332214|PMID:30868567|PMID:31376648 40919767 MYH6 myosin heavy chain 6 gene DOID:0050700 cardiomyopathy ISO RGD:737147 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:15998695|PMID:16199547|PMID:20215591|PMID:20656787|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24119082|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25467552|PMID:25500235|PMID:25741868|PMID:25931334|PMID:26085007|PMID:26220970|PMID:26272908|PMID:26350513|PMID:26383259|PMID:26656175|PMID:27194543|PMID:27650965|PMID:27760138|PMID:27789736|PMID:27930701|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28088328|PMID:28166811|PMID:28416588|PMID:28492532|PMID:28600387|PMID:28611029|PMID:28771489|PMID:28797094|PMID:28991257|PMID:29332214|PMID:29420653|PMID:29511324|PMID:29517769|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30975432|PMID:31308319|PMID:31376648|PMID:32004434 40919767 MYH6 myosin heavy chain 6 gene DOID:0050700 cardiomyopathy ISO RGD:737147 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:15998695|PMID:16199547|PMID:17576681|PMID:20215591|PMID:20656787|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24119082|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25467552|PMID:25500235|PMID:25741868|PMID:25931334|PMID:26085007|PMID:26220970|PMID:26272908|PMID:26350513|PMID:26383259|PMID:26656175|PMID:27194543|PMID:27650965|PMID:27760138|PMID:27789736|PMID:27930701|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28088328|PMID:28416588|PMID:28492532|PMID:28600387|PMID:28611029|PMID:28771489|PMID:28797094|PMID:28991257|PMID:29332214|PMID:29420653|PMID:29511324|PMID:29517769|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30975432|PMID:31308319|PMID:31376648|PMID:31737537|PMID:31847883|PMID:32004434|PMID:32277046|PMID:9536098 40919767 MYH6 myosin heavy chain 6 gene DOID:0050820 atrioventricular block ISO RGD:737147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AV Block Third Degree Adverse Event PMID:17576681|PMID:28492532|PMID:9536098 40919767 MYH6 myosin heavy chain 6 gene DOID:0060224 atrial fibrillation ISO RGD:737147 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 40919767 MYH6 myosin heavy chain 6 gene DOID:0060253 scapuloperoneal myopathy ISO RGD:737147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scapuloperoneal myopathy 40919767 MYH6 myosin heavy chain 6 gene DOID:0060319 cardiac arrest ISO RGD:737147 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:25741868 40919767 MYH6 myosin heavy chain 6 gene DOID:0060439 lysinuric protein intolerance ISO RGD:737147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 40919767 MYH6 myosin heavy chain 6 gene DOID:0060480 left ventricular noncompaction ISO RGD:737147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:24033266|PMID:25741868|PMID:28492532 40919767 MYH6 myosin heavy chain 6 gene DOID:0070197 distal myopathy 1 ISO RGD:737147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Laing early-onset distal myopathy | ClinVar Annotator: match by term: Myopathy, distal, 1 40919767 MYH6 myosin heavy chain 6 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737147 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:15998695|PMID:20215591|PMID:20458009|PMID:20656787|PMID:22011241|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24119082|PMID:25351510|PMID:25448463|PMID:25467552|PMID:25500235|PMID:25741868|PMID:25931334|PMID:26085007|PMID:26656175|PMID:27194543|PMID:27650965|PMID:27760138|PMID:27789736|PMID:28074886|PMID:28088328|PMID:28255936|PMID:28416588|PMID:28492532|PMID:29368431|PMID:29511324|PMID:29875424|PMID:30282064|PMID:30403391|PMID:30775854|PMID:30847666|PMID:31513939|PMID:31737537|PMID:31983221|PMID:32880476|PMID:33325730|PMID:35026164|PMID:35621855 40919767 MYH6 myosin heavy chain 6 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:737147 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:25741868|PMID:28492532 40919767 MYH6 myosin heavy chain 6 gene DOID:0110108 atrial heart septal defect 3 ISO RGD:737147 D RGD:7240710 20210120 OMIM 40919767 MYH6 myosin heavy chain 6 gene DOID:0110108 atrial heart septal defect 3 ISO RGD:737147 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Atrial septal defect 3 PMID:11815426|PMID:15735645|PMID:15998695|PMID:16199547|PMID:17576681|PMID:20215591|PMID:20656787|PMID:21483645|PMID:21822268|PMID:22011241|PMID:22194935|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24120998|PMID:24123366|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25741868|PMID:26085007|PMID:26220970|PMID:26272908|PMID:26458567|PMID:26656175|PMID:27483260|PMID:27532257|PMID:27788187|PMID:27789736|PMID:27930701|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28750076|PMID:28771489|PMID:28797094|PMID:28798025|PMID:28902392|PMID:28991257|PMID:29247119|PMID:29255176|PMID:29332214|PMID:29368431|PMID:29420653|PMID:29582157|PMID:29687901|PMID:29875424|PMID:29907873|PMID:29915097|PMID:30293987|PMID:30403391|PMID:30471092|PMID:30716529|PMID:30847666|PMID:30975432|PMID:31376648|PMID:31513939|PMID:31737537|PMID:31847883|PMID:31983221|PMID:32004434|PMID:32512245|PMID:32746448|PMID:32880476|PMID:32969603|PMID:33325730|PMID:33500567|PMID:34088380|PMID:34298581|PMID:34426522|PMID:34598319|PMID:35026164|PMID:35208637|PMID:9536098 40919767 MYH6 myosin heavy chain 6 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737147 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:11815426|PMID:15998695|PMID:16199547|PMID:16858239|PMID:17576681|PMID:20031618|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20458009|PMID:20656787|PMID:21302287|PMID:21378987|PMID:21483645|PMID:21822268|PMID:21835320|PMID:22011241|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23674513|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24119082|PMID:24120998|PMID:24123366|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25448463|PMID:25467552|PMID:25500235|PMID:25741868|PMID:25931334|PMID:26085007|PMID:26220970|PMID:26272908|PMID:26458567|PMID:26656175|PMID:27194543|PMID:27483260|PMID:27532257|PMID:27600940|PMID:27650965|PMID:27760138|PMID:27788187|PMID:27789736|PMID:27930701|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28088328|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28750076|PMID:28771489|PMID:28797094|PMID:28798025|PMID:28902392|PMID:28991257|PMID:29247119|PMID:29255176|PMID:29332214|PMID:29368431|PMID:29420653|PMID:29511324|PMID:29582157|PMID:29687901|PMID:29875424|PMID:29907873|PMID:29915097|PMID:30282064|PMID:30293987|PMID:30385303|PMID:30403391|PMID:30471092|PMID:30716529|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30975432|PMID:31376648|PMID:31513939|PMID:31737537|PMID:31847883|PMID:31983221|PMID:32004434|PMID:32512245|PMID:32746448|PMID:32880476|PMID:32969603|PMID:33325730|PMID:33500567|PMID:34088380|PMID:34426522|PMID:34598319|PMID:35026164|PMID:35208637|PMID:35621855|PMID:7731997|PMID:9172070|PMID:9536098 40919767 MYH6 myosin heavy chain 6 gene DOID:0110320 hypertrophic cardiomyopathy 14 ISO RGD:737147 D RGD:7240710 20210120 OMIM 40919767 MYH6 myosin heavy chain 6 gene DOID:0110320 hypertrophic cardiomyopathy 14 ISO RGD:737147 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 14 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 PMID:11815426|PMID:15735645|PMID:15998695|PMID:16199547|PMID:17576681|PMID:19336582|PMID:20215591|PMID:20458009|PMID:20656787|PMID:21378987|PMID:21483645|PMID:21822268|PMID:22011241|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24119082|PMID:24120998|PMID:24123366|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25447171|PMID:25448463|PMID:25467552|PMID:25500235|PMID:25717017|PMID:25741868|PMID:25931334|PMID:26085007|PMID:26220970|PMID:26272908|PMID:26284702|PMID:26350513|PMID:26383259|PMID:26458567|PMID:26573135|PMID:26656175|PMID:26735901|PMID:27058611|PMID:27194543|PMID:27483260|PMID:27532257|PMID:27600940|PMID:27650965|PMID:27707468|PMID:27760138|PMID:27788187|PMID:27789736|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28088328|PMID:28255936|PMID:28323875|PMID:28416588|PMID:28491533|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28549997|PMID:28600387|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28797094|PMID:28798025|PMID:28853722|PMID:28902392|PMID:28991257|PMID:29050564|PMID:29132927|PMID:29247119|PMID:29255176|PMID:29332214|PMID:29368431|PMID:29420653|PMID:29511324|PMID:29517769|PMID:29536580|PMID:29582157|PMID:29590334|PMID:29687901|PMID:29697798|PMID:29875424|PMID:29907873|PMID:29915097|PMID:29988065|PMID:30029678|PMID:30086531|PMID:30165862|PMID:30282064|PMID:30293987|PMID:30385303|PMID:30403391|PMID:30471092|PMID:30716529|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30959811|PMID:30975432|PMID:31308319|PMID:31376648|PMID:31513939|PMID:31514951|PMID:31737537|PMID:31847883|PMID:31983221|PMID:32004434|PMID:32183154|PMID:32233023|PMID:32277046|PMID:32410215|PMID:32512245|PMID:32656206|PMID:32746448|PMID:32764337|PMID:32840935|PMID:32880476|PMID:32969603|PMID:32978841|PMID:33082984|PMID:33131162|PMID:33325730|PMID:33500567|PMID:33658040|PMID:33874732|PMID:34045587|PMID:34088380|PMID:34426522|PMID:34598319|PMID:34805759|PMID:35026164|PMID:35208637|PMID:35456442|PMID:35621855|PMID:7731997|PMID:9172070|PMID:9536098 40919767 MYH6 myosin heavy chain 6 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:737147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:24033266|PMID:25741868|PMID:28082330|PMID:28492532|PMID:33500567 40919767 MYH6 myosin heavy chain 6 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:737147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:24033266|PMID:25741868|PMID:28082330|PMID:28492532|PMID:33500567 40919767 MYH6 myosin heavy chain 6 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:737147 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:15998695|PMID:20215591|PMID:21483645|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:27532257|PMID:27788187|PMID:28492532|PMID:29687901 40919767 MYH6 myosin heavy chain 6 gene DOID:0110453 dilated cardiomyopathy 1EE ISO RGD:737147 D RGD:7240710 20210120 OMIM 40919767 MYH6 myosin heavy chain 6 gene DOID:0110453 dilated cardiomyopathy 1EE ISO RGD:737147 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1EE PMID:11815426|PMID:15998695|PMID:16199547|PMID:17576681|PMID:20215591|PMID:20656787|PMID:21483645|PMID:21822268|PMID:22011241|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24119082|PMID:24120998|PMID:24123366|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25741868|PMID:26085007|PMID:26220970|PMID:26272908|PMID:26458567|PMID:26656175|PMID:27194543|PMID:27483260|PMID:27532257|PMID:27788187|PMID:27789736|PMID:27930701|PMID:28082330|PMID:28087566|PMID:28088328|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28750076|PMID:28771489|PMID:28797094|PMID:28798025|PMID:28902392|PMID:28991257|PMID:29247119|PMID:29255176|PMID:29332214|PMID:29368431|PMID:29420653|PMID:29582157|PMID:29687901|PMID:29875424|PMID:29907873|PMID:29915097|PMID:30293987|PMID:30403391|PMID:30471092|PMID:30716529|PMID:30847666|PMID:30975432|PMID:31376648|PMID:31513939|PMID:31737537|PMID:31847883|PMID:31983221|PMID:32004434|PMID:32512245|PMID:32746448|PMID:32880476|PMID:32969603|PMID:33325730|PMID:33500567|PMID:34088380|PMID:34426522|PMID:34598319|PMID:35026164|PMID:35208637|PMID:9536098 40919767 MYH6 myosin heavy chain 6 gene DOID:0111267 hyaline body myopathy ISO RGD:737147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myosin storage myopathy 40919767 MYH6 myosin heavy chain 6 gene DOID:0111269 autosomal dominant hyaline body myopathy ISO RGD:737147 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT 40919767 MYH6 myosin heavy chain 6 gene DOID:10969 hemiplegia ISO RGD:737147 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hemiplegia PMID:15998695|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 40919767 MYH6 myosin heavy chain 6 gene DOID:114 heart disease ISO RGD:737147 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Heart disease PMID:23861362|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31847883 40919767 MYH6 myosin heavy chain 6 gene DOID:11720 distal myopathy ISO RGD:737147 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY 40919767 MYH6 myosin heavy chain 6 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737147 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:15998695|PMID:20656787|PMID:22011241|PMID:23861362|PMID:24033266|PMID:24082139|PMID:25351510|PMID:25741868|PMID:27600940|PMID:27789736|PMID:28416588|PMID:28492532|PMID:28750076|PMID:28771489|PMID:29255176|PMID:29332214|PMID:29420653|PMID:29875424|PMID:30847666|PMID:30868567|PMID:31376648|PMID:31513939|PMID:31737537|PMID:32880476|PMID:32969603 40919767 MYH6 myosin heavy chain 6 gene DOID:12930 dilated cardiomyopathy ISO RGD:737147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15998695|PMID:20215591|PMID:20656787|PMID:21483645|PMID:22011241|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24119082|PMID:25741868|PMID:27194543|PMID:27789736|PMID:28082330|PMID:28088328|PMID:28166811|PMID:28416588|PMID:28492532|PMID:29875424|PMID:31513939 40919767 MYH6 myosin heavy chain 6 gene DOID:12930 dilated cardiomyopathy ISO RGD:737147 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15998695|PMID:20215591|PMID:20656787|PMID:21483645|PMID:22011241|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24119082|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25741868|PMID:27194543|PMID:27532257|PMID:27788187|PMID:27789736|PMID:28082330|PMID:28088328|PMID:28416588|PMID:28492532|PMID:28750076|PMID:29420653|PMID:29687901|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31514951|PMID:31737537 40919767 MYH6 myosin heavy chain 6 gene DOID:12930 dilated cardiomyopathy ISO RGD:737147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15998695|PMID:20215591|PMID:20656787|PMID:21483645|PMID:22011241|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24119082|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25741868|PMID:27194543|PMID:27532257|PMID:27788187|PMID:27789736|PMID:28082330|PMID:28088328|PMID:28416588|PMID:28492532|PMID:28750076|PMID:29420653|PMID:29687901|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31514951|PMID:31737537|PMID:32880476|PMID:33500567 40919767 MYH6 myosin heavy chain 6 gene DOID:13884 sick sinus syndrome ISO RGD:737147 D RGD:9068941 20210813 CTD CTD Direct Evidence: marker/mechanism PMID:21378987 40919767 MYH6 myosin heavy chain 6 gene DOID:1459 hypothyroidism ISO RGD:62029 D RGD:9068941 20210122 RGD PMID:1703406|REF_RGD_ID:12798563 40919767 MYH6 myosin heavy chain 6 gene DOID:1682 congenital heart disease ISO RGD:737147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25326635|PMID:25741868 40919767 MYH6 myosin heavy chain 6 gene DOID:1882 atrial heart septal defect ISO RGD:737147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:23861362|PMID:24033266|PMID:25741868|PMID:28416588|PMID:28492532|PMID:28750076 40919767 MYH6 myosin heavy chain 6 gene DOID:2843 long QT syndrome ISO RGD:737147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:25741868|PMID:28492532 40919767 MYH6 myosin heavy chain 6 gene DOID:2843 long QT syndrome ISO RGD:737147 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:25351510|PMID:25741868|PMID:26383259|PMID:28492532|PMID:28600387|PMID:30847666 40919767 MYH6 myosin heavy chain 6 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:737147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:15998695|PMID:20215591|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24119082|PMID:25741868|PMID:27194543|PMID:28088328|PMID:28492532|PMID:32233023 40919767 MYH6 myosin heavy chain 6 gene DOID:397 restrictive cardiomyopathy ISO RGD:737147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 40919767 MYH6 myosin heavy chain 6 gene DOID:5844 myocardial infarction ISO RGD:62029 D RGD:9068941 20210122 RGD PMID:15090263|REF_RGD_ID:11565830 40919767 MYH6 myosin heavy chain 6 gene DOID:6000 congestive heart failure ISO RGD:737147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congestive heart failure | ClinVar Annotator: match by term: Heart failure PMID:20656787|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 40919767 MYH6 myosin heavy chain 6 gene DOID:6000 congestive heart failure treatment ISO RGD:62029 D RGD:9068941 20210122 RGD associated with Myocardial Infarction PMID:18088389|REF_RGD_ID:12792974 40919767 MYH6 myosin heavy chain 6 gene DOID:630 genetic disease ISO RGD:737147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20656787|PMID:21378987|PMID:22955375|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26085007|PMID:26573135|PMID:27650965|PMID:27789736|PMID:28074886|PMID:28492532|PMID:29511324|PMID:30775854|PMID:33658040 40919767 MYH6 myosin heavy chain 6 gene DOID:6364 migraine ISO RGD:737147 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Migraine Disorders PMID:15998695|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 40919767 MYH6 myosin heavy chain 6 gene DOID:9000184 Ventricular Fibrillation ISO RGD:737147 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:25741868|PMID:28492532|PMID:28600387 40919767 MYH6 myosin heavy chain 6 gene DOID:9000265 Specific Granule Deficiency ISO RGD:737147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 40919767 MYH6 myosin heavy chain 6 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:737147 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:27789736|PMID:28491533|PMID:28492532|PMID:29332214|PMID:30868567|PMID:31376648 40919767 MYH6 myosin heavy chain 6 gene DOID:9001215 Sick Sinus Syndrome 3 ISO RGD:737147 D RGD:7240710 20210811 OMIM 40919767 MYH6 myosin heavy chain 6 gene DOID:9001215 Sick Sinus Syndrome 3 ISO RGD:737147 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome 3, susceptibility to PMID:11815426|PMID:15998695|PMID:16199547|PMID:17576681|PMID:20215591|PMID:20656787|PMID:21378987|PMID:21483645|PMID:21822268|PMID:22011241|PMID:22194935|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24120998|PMID:24123366|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25717017|PMID:25741868|PMID:26085007|PMID:26220970|PMID:26272908|PMID:26458567|PMID:27483260|PMID:27532257|PMID:27788187|PMID:27789736|PMID:27930701|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28750076|PMID:28771489|PMID:28797094|PMID:28798025|PMID:28902392|PMID:28991257|PMID:29050564|PMID:29247119|PMID:29255176|PMID:29332214|PMID:29368431|PMID:29420653|PMID:29582157|PMID:29590334|PMID:29687901|PMID:29875424|PMID:29907873|PMID:29915097|PMID:30293987|PMID:30403391|PMID:30471092|PMID:30716529|PMID:30847666|PMID:30975432|PMID:31376648|PMID:31513939|PMID:31737537|PMID:31847883|PMID:31983221|PMID:32004434|PMID:32277046|PMID:32512245|PMID:32746448|PMID:32880476|PMID:32969603|PMID:33325730|PMID:33500567|PMID:34088380|PMID:34426522|PMID:34598319|PMID:35026164|PMID:35208637|PMID:9536098 40919767 MYH6 myosin heavy chain 6 gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:733823 D RGD:9068941 20210122 RGD PMID:10199887|REF_RGD_ID:12792956 40919767 MYH6 myosin heavy chain 6 gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:737147 D RGD:9068941 20210122 RGD PMID:10199887|REF_RGD_ID:12792956 40919767 MYH6 myosin heavy chain 6 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:737147 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:23861362|PMID:24033266|PMID:25741868|PMID:27789736|PMID:28492532|PMID:29332214|PMID:30868567|PMID:31376648 40919767 MYH6 myosin heavy chain 6 gene DOID:9003163 Heart Block ISO RGD:737147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868 40919767 MYH6 myosin heavy chain 6 gene DOID:9003936 Cardiomegaly ISO RGD:62029 D RGD:9068941 20210122 RGD PMID:1703406|REF_RGD_ID:12798563 40919767 MYH6 myosin heavy chain 6 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:62029 D RGD:9068941 20210122 RGD PMID:2950137|REF_RGD_ID:12792943 40919767 MYH6 myosin heavy chain 6 gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:733823 D RGD:9068941 20210122 RGD PMID:17592507|REF_RGD_ID:12792940 40919767 MYH6 myosin heavy chain 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:737147 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 40919767 MYH6 myosin heavy chain 6 gene DOID:9005141 Ventricular Tachycardia ISO RGD:737147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:15998695|PMID:20215591|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24119082|PMID:25741868|PMID:27194543|PMID:28088328|PMID:28492532 40919767 MYH6 myosin heavy chain 6 gene DOID:9005930 Endotoxemia ISO RGD:62029 D RGD:9068941 20210122 RGD PMID:7874842|REF_RGD_ID:12792976 40919767 MYH6 myosin heavy chain 6 gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:737147 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:24120998|PMID:25741868|PMID:27483260|PMID:27789736|PMID:28492532|PMID:29875424|PMID:30847666|PMID:32880476|PMID:35208637 40919767 MYH6 myosin heavy chain 6 gene DOID:9007925 Sudden Cardiac Death ISO RGD:737147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:15998695|PMID:20215591|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24119082|PMID:25741868|PMID:27194543|PMID:28088328|PMID:28492532 40919767 MYH6 myosin heavy chain 6 gene DOID:9775 diastolic heart failure ISO RGD:737147 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 40919768 IRF7 interferon regulatory factor 7 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1317251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 40919768 IRF7 interferon regulatory factor 7 gene DOID:0050729 neutral lipid storage disease ISO RGD:1317251 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 40919768 IRF7 interferon regulatory factor 7 gene DOID:0080600 COVID-19 ISO RGD:1317251 D RGD:9068941 20210115 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 40919768 IRF7 interferon regulatory factor 7 gene DOID:0080773 delta beta-thalassemia ISO RGD:1317251 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 40919768 IRF7 interferon regulatory factor 7 gene DOID:0111969 immunodeficiency 39 ISO RGD:1317251 D RGD:7240710 20210113 OMIM 40919768 IRF7 interferon regulatory factor 7 gene DOID:0111969 immunodeficiency 39 ISO RGD:1317251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:16199547|PMID:17576681|PMID:25741868|PMID:25814066|PMID:28492532|PMID:31172279|PMID:9536098 40919768 IRF7 interferon regulatory factor 7 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1317251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 40919768 IRF7 interferon regulatory factor 7 gene DOID:12155 lymphocytic choriomeningitis ISO RGD:732185 D RGD:9068941 20210326 RGD PMID:24760883|REF_RGD_ID:124715479 40919768 IRF7 interferon regulatory factor 7 gene DOID:12155 lymphocytic choriomeningitis disease_progression ISO RGD:1317252 D RGD:9068941 20210326 RGD PMID:24760883|REF_RGD_ID:124715479 40919768 IRF7 interferon regulatory factor 7 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1317251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 40919768 IRF7 interferon regulatory factor 7 gene DOID:630 genetic disease ISO RGD:1317251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 40919768 IRF7 interferon regulatory factor 7 gene DOID:9001488 Human Influenza ISO RGD:1317251 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 40919768 IRF7 interferon regulatory factor 7 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1317251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 40919768 IRF7 interferon regulatory factor 7 gene DOID:9005372 Inflammation ISO RGD:1317251 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:20513754 40919791 LOC119873159 U6 spliceosomal RNA gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1343798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 40919791 LOC119873159 U6 spliceosomal RNA gene DOID:2717 Bloom syndrome ISO RGD:1343798 D RGD:8554872 20220517 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 40919791 LOC119873159 U6 spliceosomal RNA gene DOID:9256 colorectal cancer ISO RGD:1343798 D RGD:8554872 20220517 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 40919808 LOC119873103 small nucleolar RNA SNORD113/SNORD114 family gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602515 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 40919840 RNF227 ring finger protein 227 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:13434539 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 40919840 RNF227 ring finger protein 227 gene DOID:2729 dyskeratosis congenita ISO RGD:13434539 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 40919840 RNF227 ring finger protein 227 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:13434539 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 40919974 LOC119872407 small nucleolar RNA SNORA64/SNORA10 family gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1342964 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 40919997 LOC119873066 small nucleolar RNA SNORD113/SNORD114 family gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602523 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 40920046 LOC119868670 small nucleolar RNA SNORA11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602751 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 40920046 LOC119868670 small nucleolar RNA SNORA11 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1602751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 40920046 LOC119868670 small nucleolar RNA SNORA11 gene DOID:12849 autistic disorder ISO RGD:1602751 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40920122 LOC119868663 small nucleolar RNA SNORA35 gene DOID:12849 autistic disorder ISO RGD:1602580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40920122 LOC119868663 small nucleolar RNA SNORA35 gene DOID:5419 schizophrenia ISO RGD:1602580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40920129 LOC119866810 small nucleolar RNA SNORD115 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1606592 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 40920129 LOC119866810 small nucleolar RNA SNORD115 gene DOID:12849 autistic disorder ISO RGD:1606592 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 40920129 LOC119866810 small nucleolar RNA SNORD115 gene DOID:1932 Angelman syndrome ISO RGD:1606592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:25099823|PMID:25212744|PMID:28492532 40920129 LOC119866810 small nucleolar RNA SNORD115 gene DOID:5419 schizophrenia ISO RGD:1606592 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40920135 FAM104B family with sequence similarity 104 member B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 40920135 FAM104B family with sequence similarity 104 member B gene DOID:12849 autistic disorder ISO RGD:1353979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40920135 FAM104B family with sequence similarity 104 member B gene DOID:630 genetic disease ISO RGD:1353979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40920154 PGP phosphoglycolate phosphatase gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1351096 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 40920154 PGP phosphoglycolate phosphatase gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1351096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 40920154 PGP phosphoglycolate phosphatase gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1351096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 40920154 PGP phosphoglycolate phosphatase gene DOID:1826 epilepsy ISO RGD:1351096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 40920154 PGP phosphoglycolate phosphatase gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1351096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 40920154 PGP phosphoglycolate phosphatase gene DOID:2871 endometrial carcinoma ISO RGD:1351096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 40920154 PGP phosphoglycolate phosphatase gene DOID:630 genetic disease ISO RGD:1351096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40920154 PGP phosphoglycolate phosphatase gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1351096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 40920302 LOC119868779 uncharacterized LOC119868779 gene DOID:12849 autistic disorder ISO RGD:3539644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40920362 LOC119863933 zinc finger protein 471-like gene DOID:630 genetic disease ISO RGD:1350704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40920368 LOC119873791 small nucleolar RNA U83B gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1352386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 40920400 LOC119870860 NUT family member 2G-like gene DOID:1059 intellectual disability ISO RGD:1351697 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Intellectual disability 40920400 LOC119870860 NUT family member 2G-like gene DOID:630 genetic disease ISO RGD:1351697 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40920526 LOC119873118 small nucleolar RNA SNORD113/SNORD114 family gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 40920665 LOC119864358 small nucleolar RNA SNORD27 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1352918 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 40920665 LOC119864358 small nucleolar RNA SNORD27 gene DOID:1059 intellectual disability ISO RGD:1352918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 40920689 PSMA4 proteasome 20S subunit alpha 4 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735266 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 40920689 PSMA4 proteasome 20S subunit alpha 4 gene DOID:2717 Bloom syndrome ISO RGD:735266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 40920689 PSMA4 proteasome 20S subunit alpha 4 gene DOID:305 carcinoma ISO RGD:735266 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 40920689 PSMA4 proteasome 20S subunit alpha 4 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735266 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 40920689 PSMA4 proteasome 20S subunit alpha 4 gene DOID:630 genetic disease ISO RGD:735266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40920689 PSMA4 proteasome 20S subunit alpha 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735266 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 40920689 PSMA4 proteasome 20S subunit alpha 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735266 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 40920689 PSMA4 proteasome 20S subunit alpha 4 gene DOID:9007188 Liver Neoplasms ISO RGD:735266 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:20195826 40920689 PSMA4 proteasome 20S subunit alpha 4 gene DOID:9256 colorectal cancer ISO RGD:735266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 40920737 LOC119873081 small nucleolar RNA SNORD113/SNORD114 family gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 40920794 LOC119868751 zinc finger X-chromosomal protein-like gene DOID:12849 autistic disorder ISO RGD:1347591 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40920834 LOC119863903 cytochrome c oxidase subunit 7A2, mitochondrial gene DOID:630 genetic disease ISO RGD:1342607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40920844 LOC119864312 small nucleolar RNA SNORA54 gene DOID:0080773 delta beta-thalassemia ISO RGD:1602564 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 40920857 DALRD3 DALR anticodon binding domain containing 3 gene DOID:0112220 developmental and epileptic encephalopathy 86 ISO RGD:1352602 D RGD:7240710 20210114 OMIM 40920857 DALRD3 DALR anticodon binding domain containing 3 gene DOID:0112220 developmental and epileptic encephalopathy 86 ISO RGD:1352602 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 86 PMID:25741868|PMID:32427860 40920857 DALRD3 DALR anticodon binding domain containing 3 gene DOID:630 genetic disease ISO RGD:1352602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40920857 DALRD3 DALR anticodon binding domain containing 3 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1352602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 40920857 DALRD3 DALR anticodon binding domain containing 3 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1352602 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 40920859 LOC119868669 small nucleolar RNA SNORA11 gene DOID:12849 autistic disorder ISO RGD:12738313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40920877 WDR38 WD repeat domain 38 gene DOID:630 genetic disease ISO RGD:1625454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40920884 LOC119866456 small nucleolar RNA U85 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1602538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 40920941 LOC119868268 melanoma-associated antigen B4-like gene DOID:12849 autistic disorder ISO RGD:1351509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40921047 CDHR5 cadherin related family member 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 40921047 CDHR5 cadherin related family member 5 gene DOID:0050729 neutral lipid storage disease ISO RGD:1605676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 40921047 CDHR5 cadherin related family member 5 gene DOID:0080773 delta beta-thalassemia ISO RGD:1605676 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 40921047 CDHR5 cadherin related family member 5 gene DOID:0111969 immunodeficiency 39 ISO RGD:1605676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 40921047 CDHR5 cadherin related family member 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 40921047 CDHR5 cadherin related family member 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1605676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 40921047 CDHR5 cadherin related family member 5 gene DOID:630 genetic disease ISO RGD:1605676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40921047 CDHR5 cadherin related family member 5 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1605676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 40921159 C1H19orf73 chromosome 1 C19orf73 homolog gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1602703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 40921159 C1H19orf73 chromosome 1 C19orf73 homolog gene DOID:0111076 progressive familial heart block type IB ISO RGD:1602703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 40921211 LOC119868182 melanoma-associated antigen B5-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 40921211 LOC119868182 melanoma-associated antigen B5-like gene DOID:12849 autistic disorder ISO RGD:1349538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40921211 LOC119868182 melanoma-associated antigen B5-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40921254 NUDT16L1 nudix hydrolase 16 like 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1342997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 40921254 NUDT16L1 nudix hydrolase 16 like 1 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1342997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 40921254 NUDT16L1 nudix hydrolase 16 like 1 gene DOID:1826 epilepsy ISO RGD:1342997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 40921254 NUDT16L1 nudix hydrolase 16 like 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1342997 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 40921254 NUDT16L1 nudix hydrolase 16 like 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1342997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 40921254 NUDT16L1 nudix hydrolase 16 like 1 gene DOID:630 genetic disease ISO RGD:1342997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40921372 LOC119871334 small nucleolar RNA SNORD115 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:5483728 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 40921372 LOC119871334 small nucleolar RNA SNORD115 gene DOID:12849 autistic disorder ISO RGD:5483728 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 40921372 LOC119871334 small nucleolar RNA SNORD115 gene DOID:1932 Angelman syndrome ISO RGD:5483728 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:25099823|PMID:25212744|PMID:28492532 40921372 LOC119871334 small nucleolar RNA SNORD115 gene DOID:5419 schizophrenia ISO RGD:5483728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40921434 LOC119870901 cytochrome c oxidase subunit 6B2 gene DOID:630 genetic disease ISO RGD:1349779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40921437 PABPC1L2A poly(A) binding protein cytoplasmic 1 like 2A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 40921437 PABPC1L2A poly(A) binding protein cytoplasmic 1 like 2A gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:1603498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 PMID:24403048 40921437 PABPC1L2A poly(A) binding protein cytoplasmic 1 like 2A gene DOID:12849 autistic disorder ISO RGD:1603498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40921437 PABPC1L2A poly(A) binding protein cytoplasmic 1 like 2A gene DOID:630 genetic disease ISO RGD:1603498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40921594 LOC119872410 small nucleolar RNA SNORD45 gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:1351466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:28492532 40921608 MXRA7 matrix remodeling associated 7 gene DOID:630 genetic disease ISO RGD:1348883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40921633 KLF13 KLF transcription factor 13 gene DOID:0060041 autism spectrum disorder ISO RGD:1344641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:19050728|PMID:19289393|PMID:21844811|PMID:23044707|PMID:25255310|PMID:25741868|PMID:27569545 40921633 KLF13 KLF transcription factor 13 gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:1344641 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome PMID:31690835 40921633 KLF13 KLF transcription factor 13 gene DOID:12849 autistic disorder ISO RGD:1344641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40921633 KLF13 KLF transcription factor 13 gene DOID:1682 congenital heart disease ISO RGD:1344641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital heart disease 40921633 KLF13 KLF transcription factor 13 gene DOID:289 endometriosis ISO RGD:1344641 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 40921633 KLF13 KLF transcription factor 13 gene DOID:5419 schizophrenia ISO RGD:1344641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40921633 KLF13 KLF transcription factor 13 gene DOID:5844 myocardial infarction ISO RGD:1344641 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:29122578 40921633 KLF13 KLF transcription factor 13 gene DOID:630 genetic disease ISO RGD:1344641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 40921633 KLF13 KLF transcription factor 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40921633 KLF13 KLF transcription factor 13 gene DOID:9256 colorectal cancer ISO RGD:1344641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 40921726 DRD4 dopamine receptor D4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 40921726 DRD4 dopamine receptor D4 gene DOID:0050729 neutral lipid storage disease ISO RGD:736138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 40921726 DRD4 dopamine receptor D4 gene DOID:0060040 pervasive developmental disorder ISO RGD:736138 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:20731709 40921726 DRD4 dopamine receptor D4 gene DOID:0060040 pervasive developmental disorder ISO RGD:736138 D RGD:9068941 20210115 RGD mRNA:decreased expression:blood PMID:21906006|REF_RGD_ID:5686422 40921726 DRD4 dopamine receptor D4 gene DOID:0060041 autism spectrum disorder ISO RGD:736138 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 40921726 DRD4 dopamine receptor D4 gene DOID:0080773 delta beta-thalassemia ISO RGD:736138 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 40921726 DRD4 dopamine receptor D4 gene DOID:0111969 immunodeficiency 39 ISO RGD:736138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 40921726 DRD4 dopamine receptor D4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 40921726 DRD4 dopamine receptor D4 gene DOID:1059 intellectual disability ISO RGD:736138 D RGD:9068941 20210115 RGD DNA:snps, haplotype:promoter:c.-906T>C, c.-809A>G (rs3758653, rs936461) (human) PMID:22366260|REF_RGD_ID:13209013 40921726 DRD4 dopamine receptor D4 gene DOID:10652 Alzheimer's disease ISO RGD:736138 D RGD:9068941 20210115 RGD protein:decreased expression:frontal cortex, neuron PMID:17182012|REF_RGD_ID:5686412 40921726 DRD4 dopamine receptor D4 gene DOID:10685 separation anxiety disorder ISO RGD:736138 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:20731709 40921726 DRD4 dopamine receptor D4 gene DOID:10939 antisocial personality disorder ISO RGD:736796 D RGD:9068941 20210115 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:17587443|REF_RGD_ID:13210585 40921726 DRD4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736138 D RGD:7240710 20210113 OMIM 40921726 DRD4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:736138 D RGD:9068941 20210115 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:10898895|REF_RGD_ID:7248607 40921726 DRD4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:736138 D RGD:9068941 20210115 RGD DNA:duplication:promoter:g.-1480_-1240dup (human) PMID:11449395|REF_RGD_ID:13210510 40921726 DRD4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:736138 D RGD:9068941 20210115 RGD DNA:snp:promoter:g.-521G>A (human) PMID:15389764|REF_RGD_ID:13210521 40921726 DRD4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder severity ISO RGD:736138 D RGD:9068941 20210115 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:17679637|REF_RGD_ID:13210507 40921726 DRD4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder severity ISO RGD:736138 D RGD:9068941 20210115 RGD DNA:snp:promoter:g.-521G>A (human) PMID:15909295|REF_RGD_ID:13210511 40921726 DRD4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder susceptibility ISO RGD:736138 D RGD:9068941 20210115 RGD DNA:repeats: : PMID:9118321|REF_RGD_ID:1358608 40921726 DRD4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder treatment ISO RGD:737381|RGD:1312823 D RGD:9068941 20210115 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:23083021|REF_RGD_ID:13210577 40921726 DRD4 dopamine receptor D4 gene DOID:11119 Gilles de la Tourette syndrome no_association ISO RGD:736138 D RGD:9068941 20210115 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:8725747|REF_RGD_ID:13210516 40921726 DRD4 dopamine receptor D4 gene DOID:11119 Gilles de la Tourette syndrome susceptibility ISO RGD:736138 D RGD:9068941 20210115 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:25258183|REF_RGD_ID:13209010 40921726 DRD4 dopamine receptor D4 gene DOID:11465 autonomic nervous system disease ISO RGD:736138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autonomic nervous system dysfunction PMID:7881421 40921726 DRD4 dopamine receptor D4 gene DOID:12399 pathological gambling ISO RGD:736138 D RGD:9068941 20210115 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:10402503|REF_RGD_ID:13210523 40921726 DRD4 dopamine receptor D4 gene DOID:12995 conduct disorder ISO RGD:736796 D RGD:9068941 20210115 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:17587443|REF_RGD_ID:13210585 40921726 DRD4 dopamine receptor D4 gene DOID:1324 lung cancer ISO RGD:736138 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 40921726 DRD4 dopamine receptor D4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 40921726 DRD4 dopamine receptor D4 gene DOID:2769 tic disorder ISO RGD:736138 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:20731709 40921726 DRD4 dopamine receptor D4 gene DOID:4428 dyslexia ISO RGD:736138 D RGD:9068941 20210115 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:14755455|REF_RGD_ID:13209014 40921726 DRD4 dopamine receptor D4 gene DOID:5419 schizophrenia ISO RGD:736138 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 40921726 DRD4 dopamine receptor D4 gene DOID:5419 schizophrenia ISO RGD:736138 D RGD:9068941 20210115 RGD protein:increased expression:striatum (human) PMID:8413587|REF_RGD_ID:13209006 40921726 DRD4 dopamine receptor D4 gene DOID:630 genetic disease ISO RGD:736138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40921726 DRD4 dopamine receptor D4 gene DOID:670 amphetamine abuse ISO RGD:736138 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:15274053 40921726 DRD4 dopamine receptor D4 gene DOID:684 hepatocellular carcinoma ISO RGD:736138 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 40921726 DRD4 dopamine receptor D4 gene DOID:9002514 Neointima treatment ISO RGD:2522 D RGD:9068941 20210115 RGD associated with type 2 diabetes mellitus PMID:24888351|REF_RGD_ID:13506962 40921726 DRD4 dopamine receptor D4 gene DOID:9003410 Novelty Seeking Personality Trait ISO RGD:736138 D RGD:9068941 20210115 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:15517431|REF_RGD_ID:13210514 40921726 DRD4 dopamine receptor D4 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:736138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 40921726 DRD4 dopamine receptor D4 gene DOID:9004956 Nocturnal Enuresis ISO RGD:736138 D RGD:9068941 20210115 RGD DNA:duplication, polymorphisms, haplotype:promoter:g.-1480_-1240dup, g.-616C>G, g.-521C>T (human) PMID:18947481|REF_RGD_ID:7248549 40921726 DRD4 dopamine receptor D4 gene DOID:9007872 Reactive Attachment Disorder susceptibility ISO RGD:736138 D RGD:9068941 20210115 RGD DNA:repeats: : PMID:11126393|REF_RGD_ID:36947393 40921726 DRD4 dopamine receptor D4 gene DOID:9007892 Tics ISO RGD:736138 D RGD:9068941 20210115 RGD associated with Obsessive-Compulsive Disorder;DNA:duplication:exon:g.2689_2737dup (human) PMID:9280153|REF_RGD_ID:13210517 40921726 DRD4 dopamine receptor D4 gene DOID:9008953 Binge-Eating Disorder ISO RGD:2522 D RGD:9068941 20210115 RGD PMID:28821448|REF_RGD_ID:13506951 40921726 DRD4 dopamine receptor D4 gene DOID:9008967 Brain Concussion ISO RGD:2522 D RGD:9068941 20210115 RGD PMID:26448536|REF_RGD_ID:13506960 40921726 DRD4 dopamine receptor D4 gene DOID:9009161 Attention Deficit and Disruptive Behavior Disorders ISO RGD:736138 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:20731709 40921726 DRD4 dopamine receptor D4 gene DOID:9009161 Attention Deficit and Disruptive Behavior Disorders ISO RGD:736138 D RGD:9068941 20210115 RGD associated with Attention Deficit Disorder with Hyperactivity;DNA:snp:promoter:g.-521C>T (human) PMID:17572775|REF_RGD_ID:13210522 40921726 DRD4 dopamine receptor D4 gene DOID:9970 obesity ISO RGD:2522 D RGD:9068941 20210115 RGD protein:decreased expression:kidney (rat) PMID:20810614|REF_RGD_ID:7248616 40921729 PHLDA2 pleckstrin homology like domain family A member 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 40921729 PHLDA2 pleckstrin homology like domain family A member 2 gene DOID:0080600 COVID-19 ISO RGD:1312382 D RGD:9068941 20210115 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 40921729 PHLDA2 pleckstrin homology like domain family A member 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1312382 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 40921729 PHLDA2 pleckstrin homology like domain family A member 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 40921729 PHLDA2 pleckstrin homology like domain family A member 2 gene DOID:3347 osteosarcoma ISO RGD:1312382 D RGD:9068941 20210115 CTD CTD Direct Evidence: therapeutic PMID:22021909 40921729 PHLDA2 pleckstrin homology like domain family A member 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1312382 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 40921729 PHLDA2 pleckstrin homology like domain family A member 2 gene DOID:630 genetic disease ISO RGD:1312382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40921758 ARL13A ADP ribosylation factor like GTPase 13A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 40921758 ARL13A ADP ribosylation factor like GTPase 13A gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1343034 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 40921758 ARL13A ADP ribosylation factor like GTPase 13A gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1343034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 40921758 ARL13A ADP ribosylation factor like GTPase 13A gene DOID:12849 autistic disorder ISO RGD:1343034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40921758 ARL13A ADP ribosylation factor like GTPase 13A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40921758 ARL13A ADP ribosylation factor like GTPase 13A gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1343034 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 40921857 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 40921857 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1344057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 40921857 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1344057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 40921857 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1344057 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 40921857 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:0110720 neuronal ceroid lipofuscinosis 4 ISO RGD:1344057 D RGD:7240710 20210113 OMIM 40921857 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:0110720 neuronal ceroid lipofuscinosis 4 ISO RGD:1344057 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Kufs disease autosomal dominant | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 4B PMID:11489285|PMID:12112194|PMID:21820099|PMID:22073189|PMID:22235333|PMID:22978711|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31919451 40921857 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 40921857 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:11832 visual epilepsy ISO RGD:1344057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26467025|PMID:28492532 40921857 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:17576681|PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25741868|PMID:25921748|PMID:26467025|PMID:28492532|PMID:29215089|PMID:30866059|PMID:32412666|PMID:9536098 40921857 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344057 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32412666|PMID:9536098 40921857 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:1826 epilepsy ISO RGD:1344057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:26467025|PMID:28492532 40921857 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:630 genetic disease ISO RGD:1344057 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 40921857 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1344057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:25741868|PMID:26467025|PMID:28492532 40921880 LOC119873122 small nucleolar RNA SNORD113/SNORD114 family gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 40921957 LOC119865810 small nucleolar SNORD12/SNORD106 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:1602749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 40922094 CSTB cystatin B gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:735434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 40922094 CSTB cystatin B gene DOID:0110266 cataract 9 multiple types ISO RGD:735434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 40922094 CSTB cystatin B gene DOID:0111452 progressive myoclonus epilepsy 1A ISO RGD:735434 D RGD:7240710 20210113 OMIM 40922094 CSTB cystatin B gene DOID:1059 intellectual disability ISO RGD:735434 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:15329070|PMID:15483648|PMID:16155205|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:25741868|PMID:26843564|PMID:28492532|PMID:29358611|PMID:8596935|PMID:9054946|PMID:9342192 40922094 CSTB cystatin B gene DOID:1059 intellectual disability ISO RGD:735434 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:15329070|PMID:15483648|PMID:16155205|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:8596935|PMID:9054946|PMID:9342192 40922094 CSTB cystatin B gene DOID:10907 microcephaly ISO RGD:735434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Progressive microcephaly PMID:15329070|PMID:15483648|PMID:16155205|PMID:17003839|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:23205931|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:32581362|PMID:8596935|PMID:9012407|PMID:9054946|PMID:9342192|PMID:9360639 40922094 CSTB cystatin B gene DOID:11832 visual epilepsy ISO RGD:735434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26467025|PMID:28492532 40922094 CSTB cystatin B gene DOID:12849 autistic disorder ISO RGD:735434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40922094 CSTB cystatin B gene DOID:3068 glioblastoma ISO RGD:735434 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:22287159 40922094 CSTB cystatin B gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:735434 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:15329070|PMID:15483648|PMID:16155205|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:8596935|PMID:9054946|PMID:9342192 40922094 CSTB cystatin B gene DOID:3535 Unverricht-Lundborg syndrome ISO RGD:735434 D RGD:7240710 20210113 OMIM 40922094 CSTB cystatin B gene DOID:3535 Unverricht-Lundborg syndrome ISO RGD:735434 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Unverricht-Lundborg syndrome PMID:11814737|PMID:15329070|PMID:15483648|PMID:16155205|PMID:17003839|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22154554|PMID:22936898|PMID:23205931|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:32581362|PMID:8596935|PMID:9012407|PMID:9054946|PMID:9342192|PMID:9360639 40922094 CSTB cystatin B gene DOID:3565 meningioma ISO RGD:735434 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:19747051 40922094 CSTB cystatin B gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:735434 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 40922094 CSTB cystatin B gene DOID:543 dystonia ISO RGD:735434 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:15329070|PMID:15483648|PMID:16155205|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:8596935|PMID:9054946|PMID:9342192 40922094 CSTB cystatin B gene DOID:630 genetic disease ISO RGD:735434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15483648|PMID:17003839|PMID:17217964|PMID:23091450|PMID:23205931|PMID:2347312|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:32581362|PMID:8596935|PMID:9012407|PMID:9054946|PMID:9360639 40922094 CSTB cystatin B gene DOID:891 progressive myoclonus epilepsy ISO RGD:735434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:15329070|PMID:15483648|PMID:16155205|PMID:17003839|PMID:17576681|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:23091450|PMID:23205931|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:32581362|PMID:8596935|PMID:9012407|PMID:9054946|PMID:9342192|PMID:9360639|PMID:9536098 40922094 CSTB cystatin B gene DOID:9002801 Recurrence ISO RGD:735434 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:19747051 40922094 CSTB cystatin B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40922094 CSTB cystatin B gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735434 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:19747051|PMID:22287159 40922094 CSTB cystatin B gene DOID:9005154 Myoclonic Epilepsies ISO RGD:735434 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoclonus epilepsy PMID:15329070|PMID:15483648|PMID:16155205|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:8596935|PMID:9054946|PMID:9342192 40922094 CSTB cystatin B gene DOID:9008675 Dyskinesias ISO RGD:735434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskinesia PMID:15329070|PMID:15483648|PMID:16155205|PMID:17003839|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:23205931|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:32581362|PMID:8596935|PMID:9012407|PMID:9054946|PMID:9342192|PMID:9360639 40922094 CSTB cystatin B gene DOID:9263 homocystinuria ISO RGD:735434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 40922094 CSTB cystatin B gene DOID:9562 primary ciliary dyskinesia ISO RGD:735434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 40922187 LOC119871361 small Cajal body-specific RNA 23 gene DOID:12849 autistic disorder ISO RGD:1602766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40922245 SBK2 SH3 domain binding kinase family member 2 gene DOID:630 genetic disease ISO RGD:2302831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40922332 ZNF620 zinc finger protein 620 gene DOID:630 genetic disease ISO RGD:1606672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40922338 THSD8 thrombospondin type 1 domain containing 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1620125 D RGD:9068941 20220204 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 40922355 LOC119868656 small nucleolar RNA SNORD61 gene DOID:12849 autistic disorder ISO RGD:1354078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40922397 THOC3 THO complex subunit 3 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1323248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 40922397 THOC3 THO complex subunit 3 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1323248 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 40922397 THOC3 THO complex subunit 3 gene DOID:630 genetic disease ISO RGD:1323248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40922453 ICAM2 intercellular adhesion molecule 2 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1351795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 40922453 ICAM2 intercellular adhesion molecule 2 gene DOID:1790 malignant mesothelioma ISO RGD:1351795 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 40922453 ICAM2 intercellular adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1351795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40922453 ICAM2 intercellular adhesion molecule 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1351795 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 40922453 ICAM2 intercellular adhesion molecule 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351795 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 40922524 LOC119872403 small nucleolar RNA SNORD21 gene DOID:0112131 severe congenital neutropenia 2 ISO RGD:1352254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant PMID:28492532 40922524 LOC119872403 small nucleolar RNA SNORD21 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1352254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:19061985|PMID:19773262|PMID:22689679|PMID:28492532 40922603 LOC119867565 small nucleolar RNA SNORA63 gene DOID:0060575 3MC syndrome 1 ISO RGD:1348131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 40922610 TMEM158 transmembrane protein 158 gene DOID:630 genetic disease ISO RGD:733049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40922642 SMIM40 small integral membrane protein 40 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:14700595 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 40922814 MTERF3 mitochondrial transcription termination factor 3 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1603051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:24442880|PMID:28492532 40922814 MTERF3 mitochondrial transcription termination factor 3 gene DOID:630 genetic disease ISO RGD:1603051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40922849 UBD ubiquitin D gene DOID:10608 celiac disease ISO RGD:69468 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 40922849 UBD ubiquitin D gene DOID:11372 megacolon ISO RGD:69468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 40922849 UBD ubiquitin D gene DOID:12236 primary biliary cholangitis ISO RGD:69468 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 40922849 UBD ubiquitin D gene DOID:630 genetic disease ISO RGD:69468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40922849 UBD ubiquitin D gene DOID:684 hepatocellular carcinoma ISO RGD:69468 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 40922849 UBD ubiquitin D gene DOID:9000722 Animal Hepatitis ISO RGD:69468 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:18559427 40922849 UBD ubiquitin D gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69468 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 40922849 UBD ubiquitin D gene DOID:9008939 Breast Neoplasms ISO RGD:69468 D RGD:9068941 20210122 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 40922849 Ubd ubiquitin D gene DOID:5844 myocardial infarction ISO RGD:69418 D RGD:9068941 20210521 RGD mRNA, protein; increased expression; myocardium (rat) PMID:29438664|REF_RGD_ID:126925221 40922882 UTF1 undifferentiated embryonic cell transcription factor 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1346918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 40922882 UTF1 undifferentiated embryonic cell transcription factor 1 gene DOID:630 genetic disease ISO RGD:1346918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40923046 FCN3 ficolin 3 gene DOID:0050827 rheumatic heart disease ISO RGD:1348305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rheumatic heart disease 40923046 FCN3 ficolin 3 gene DOID:10907 microcephaly ISO RGD:1348305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 40923046 FCN3 ficolin 3 gene DOID:612 primary immunodeficiency disease ISO RGD:1348305 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:19535802 40923046 FCN3 ficolin 3 gene DOID:630 genetic disease ISO RGD:1348305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 40923046 FCN3 ficolin 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1348305 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 40923046 FCN3 ficolin 3 gene DOID:9003220 Immunodeficiency due to Ficolin 3 Deficiency ISO RGD:1348305 D RGD:7240710 20210113 OMIM 40923046 FCN3 ficolin 3 gene DOID:9003220 Immunodeficiency due to Ficolin 3 Deficiency ISO RGD:1348305 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency due to ficolin 3 deficiency | ClinVar Annotator: match by term: LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 3 PMID:19535802|PMID:20971976|PMID:22226667|PMID:25662573|PMID:25741868|PMID:28492532 40923105 HOXC9 homeobox C9 gene DOID:630 genetic disease ISO RGD:1314056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40923105 HOXC9 homeobox C9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40923260 C30H15orf48 chromosome 30 C15orf48 homolog gene DOID:0050712 AGAT deficiency ISO RGD:1601736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 40923260 C30H15orf48 chromosome 30 C15orf48 homolog gene DOID:2717 Bloom syndrome ISO RGD:1601736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 40923260 C30H15orf48 chromosome 30 C15orf48 homolog gene DOID:630 genetic disease ISO RGD:1601736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40923260 C30H15orf48 chromosome 30 C15orf48 homolog gene DOID:9256 colorectal cancer ISO RGD:1601736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 40923323 TMEM30B transmembrane protein 30B gene DOID:1909 melanoma ISO RGD:1318678 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 40923323 TMEM30B transmembrane protein 30B gene DOID:630 genetic disease ISO RGD:1318678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40923330 LOC119868241 uncharacterized protein CXorf51A-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:5508282 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 40923330 LOC119868241 uncharacterized protein CXorf51A-like gene DOID:12849 autistic disorder ISO RGD:5508282 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40923375 LOC119865995 small nucleolar RNA ACA64 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1602553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 40923385 SOX11 SRY-box transcription factor 11 gene DOID:0070057 Coffin-Siris syndrome 9 ISO RGD:735734 D RGD:7240710 20210113 OMIM 40923385 SOX11 SRY-box transcription factor 11 gene DOID:0070057 Coffin-Siris syndrome 9 ISO RGD:735734 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 9 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND WITH OR WITHOUT OCULAR MALFORMATIONS OR HYPOGONADOTROPIC HYPOGONADISM PMID:24886874|PMID:25741868|PMID:26543203|PMID:28492532|PMID:28787104|PMID:31292255|PMID:32860008|PMID:33086258|PMID:33785884|PMID:35341651|PMID:35642566|PMID:35938035 40923385 SOX11 SRY-box transcription factor 11 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:735734 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 40923385 SOX11 SRY-box transcription factor 11 gene DOID:1925 Coffin-Siris syndrome ISO RGD:735734 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome PMID:25741868|PMID:26543203 40923385 SOX11 SRY-box transcription factor 11 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:735735 D RGD:9068941 20220825 MouseDO OMIM:261800 40923385 SOX11 SRY-box transcription factor 11 gene DOID:630 genetic disease ISO RGD:735734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15254231|PMID:24886874|PMID:25741868|PMID:26543203|PMID:28492532 40923385 SOX11 SRY-box transcription factor 11 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:735734 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 40923385 SOX11 SRY-box transcription factor 11 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:735734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 40923385 SOX11 SRY-box transcription factor 11 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735734 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 40923385 SOX11 SRY-box transcription factor 11 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:735734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:31292255 40923465 TMEM238L transmembrane protein 238 like gene DOID:9008443 Colorectal Neoplasms ISO RGD:6893029 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 40923471 LOC119865675 WAP four-disulfide core domain protein 6A-like gene DOID:2234 focal epilepsy ISO RGD:1315316 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 40923471 LOC119865675 WAP four-disulfide core domain protein 6A-like gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1315316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 40923558 LOC119864989 olfactory receptor 52E8-like gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1343147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 40923558 LOC119864989 olfactory receptor 52E8-like gene DOID:630 genetic disease ISO RGD:1343147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40923564 PLEKHJ1 pleckstrin homology domain containing J1 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1316273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 40923564 PLEKHJ1 pleckstrin homology domain containing J1 gene DOID:630 genetic disease ISO RGD:1316273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40923564 PLEKHJ1 pleckstrin homology domain containing J1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40923581 LOC119866035 small nucleolar RNA SNORD82 gene DOID:0060476 Perlman syndrome ISO RGD:1352574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 40923581 LOC119866035 small nucleolar RNA SNORD82 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1352574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 40923595 TBC1D9 TBC1 domain family member 9 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1604383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:28332277 40923595 TBC1D9 TBC1 domain family member 9 gene DOID:630 genetic disease ISO RGD:1604383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40923595 TBC1D9 TBC1 domain family member 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604383 D RGD:9068941 20210226 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 40923596 TRMT2B tRNA methyltransferase 2 homolog B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 40923596 TRMT2B tRNA methyltransferase 2 homolog B gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1350620 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 40923596 TRMT2B tRNA methyltransferase 2 homolog B gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1350620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 40923596 TRMT2B tRNA methyltransferase 2 homolog B gene DOID:12849 autistic disorder ISO RGD:1350620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40923596 TRMT2B tRNA methyltransferase 2 homolog B gene DOID:630 genetic disease ISO RGD:1350620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40923596 TRMT2B tRNA methyltransferase 2 homolog B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40923596 TRMT2B tRNA methyltransferase 2 homolog B gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1350620 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 40923633 LOC119872052 U8 small nucleolar RNA gene DOID:0070115 Meckel syndrome 1 ISO RGD:2859191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:25741868|PMID:27571260 40923633 LOC119872052 U8 small nucleolar RNA gene DOID:1339 Diamond-Blackfan anemia ISO RGD:2859191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 40923633 LOC119872052 U8 small nucleolar RNA gene DOID:2729 dyskeratosis congenita ISO RGD:2859191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 40923633 LOC119872052 U8 small nucleolar RNA gene DOID:3012 Li-Fraumeni syndrome ISO RGD:2859191 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 40923633 LOC119872052 U8 small nucleolar RNA gene DOID:9003124 Labrune Syndrome ISO RGD:2859191 D RGD:7240710 20211222 OMIM 40923633 LOC119872052 U8 small nucleolar RNA gene DOID:9003124 Labrune Syndrome ISO RGD:2859191 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts PMID:25741868|PMID:27571260|PMID:28177126|PMID:28492532|PMID:29260032|PMID:29970281|PMID:29984895|PMID:29984898|PMID:29996189|PMID:31521395|PMID:32342562|PMID:33029936 40923663 FKBP14 FKBP prolyl isomerase 14 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1323300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:22265013|PMID:24677762|PMID:25741868|PMID:27149304|PMID:27905128|PMID:28492532|PMID:28617417|PMID:30561154|PMID:31063316|PMID:31132235 40923674 TMEM266 transmembrane protein 266 gene DOID:2717 Bloom syndrome ISO RGD:1351477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 40923674 TMEM266 transmembrane protein 266 gene DOID:5419 schizophrenia ISO RGD:1351477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40923674 TMEM266 transmembrane protein 266 gene DOID:630 genetic disease ISO RGD:1351477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40923674 TMEM266 transmembrane protein 266 gene DOID:9256 colorectal cancer ISO RGD:1351477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 40923736 GPRASP1 G protein-coupled receptor associated sorting protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 40923736 GPRASP1 G protein-coupled receptor associated sorting protein 1 gene DOID:1059 intellectual disability ISO RGD:1349786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 40923736 GPRASP1 G protein-coupled receptor associated sorting protein 1 gene DOID:12849 autistic disorder ISO RGD:1349786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40923736 GPRASP1 G protein-coupled receptor associated sorting protein 1 gene DOID:630 genetic disease ISO RGD:1349786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40923809 LHFPL3 LHFPL tetraspan subfamily member 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 40923809 LHFPL3 LHFPL tetraspan subfamily member 3 gene DOID:630 genetic disease ISO RGD:1349891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40923858 LEUTX leucine twenty homeobox gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:2289877 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 40923858 LEUTX leucine twenty homeobox gene DOID:1339 Diamond-Blackfan anemia ISO RGD:2289877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 40923858 LEUTX leucine twenty homeobox gene DOID:1342 congenital hypoplastic anemia ISO RGD:2289877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 40923858 LEUTX leucine twenty homeobox gene DOID:2340 craniosynostosis ISO RGD:2289877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 40923858 LEUTX leucine twenty homeobox gene DOID:630 genetic disease ISO RGD:2289877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40923858 LEUTX leucine twenty homeobox gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:2289877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 40923858 LEUTX leucine twenty homeobox gene DOID:9269 maple syrup urine disease ISO RGD:2289877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 40923858 LEUTX leucine twenty homeobox gene DOID:9352 type 2 diabetes mellitus ISO RGD:2289877 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 40923900 LOC119865294 small nucleolar RNA SNORA31 gene DOID:9002973 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 10 susceptibility ISO RGD:1602582 D RGD:7240710 20221116 OMIM 40923912 TSPAN3 tetraspanin 3 gene DOID:2717 Bloom syndrome ISO RGD:1602131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 40923912 TSPAN3 tetraspanin 3 gene DOID:5419 schizophrenia ISO RGD:1602131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40923912 TSPAN3 tetraspanin 3 gene DOID:630 genetic disease ISO RGD:1602131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40923912 TSPAN3 tetraspanin 3 gene DOID:9256 colorectal cancer ISO RGD:1602131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 40924009 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 40924009 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:0060058 lymphoma ISO RGD:733676 D RGD:9068941 20210115 RGD DNA:translocation:intron:t(ll;14)(q23;q32) (human) PMID:11983068|REF_RGD_ID:4107059 40924009 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 40924009 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:0080690 RASopathy ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 40924009 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 40924009 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:0111123 nephronophthisis 15 ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 40924009 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 40924009 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 40924009 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 40924009 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:1059 intellectual disability ISO RGD:733676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 40924009 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:630 genetic disease ISO RGD:733676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40924009 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 40924009 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:9007661 Dwarfism ISO RGD:733676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 40924136 LOC119871675 U6 spliceosomal RNA gene DOID:0080600 COVID-19 ISO RGD:10413467 D RGD:9068941 20220915 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 40924206 LOC119871366 small nucleolar RNA SNORD107 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1606194 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 40924206 LOC119871366 small nucleolar RNA SNORD107 gene DOID:12849 autistic disorder ISO RGD:1606194 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 40924206 LOC119871366 small nucleolar RNA SNORD107 gene DOID:1932 Angelman syndrome ISO RGD:1606194 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:25099823|PMID:25212744|PMID:28492532 40924206 LOC119871366 small nucleolar RNA SNORD107 gene DOID:5419 schizophrenia ISO RGD:1606194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40924236 RBMXL2 RBMX like 2 gene DOID:630 genetic disease ISO RGD:1603656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40924379 STAM2 signal transducing adaptor molecule 2 gene DOID:630 genetic disease ISO RGD:1322986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40924445 LOC119868852 small nucleolar RNA SNORA69 gene DOID:12849 autistic disorder ISO RGD:1344266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40924459 LOC119874347 small nucleolar RNA SNORD50 gene DOID:14566 disease of cellular proliferation ISO RGD:1602738 D RGD:9068941 20211224 CTD CTD Direct Evidence: marker/mechanism PMID:26595770 40924459 LOC119874347 small nucleolar RNA SNORD50 gene DOID:9007702 Carcinogenesis ISO RGD:1602738 D RGD:9068941 20211224 CTD CTD Direct Evidence: marker/mechanism PMID:26595770 40924470 LOC119870876 zinc finger protein 134-like gene DOID:630 genetic disease ISO RGD:1352509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40924504 SUPT20HL2 SUPT20H like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 40924504 SUPT20HL2 SUPT20H like 2 gene DOID:12849 autistic disorder ISO RGD:1347213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40924504 SUPT20HL2 SUPT20H like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40924509 LOC119864308 small nucleolar RNA SNORA52 gene DOID:0080773 delta beta-thalassemia ISO RGD:1602242 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 40924515 LOC119873092 small nucleolar RNA SNORD113/SNORD114 family gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 40924537 LOC119874467 UDP-glucuronosyltransferase 2A1 gene DOID:0060041 autism spectrum disorder ISO RGD:69489 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 40924537 LOC119874467 UDP-glucuronosyltransferase 2A1 gene DOID:630 genetic disease ISO RGD:69489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40924537 LOC119874467 UDP-glucuronosyltransferase 2A1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:69489 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 43583432 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:0050952 spastic ataxia ISO RGD:68558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 43583432 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:0050993 episodic ataxia type 5 ISO RGD:68558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 5 PMID:10762541|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28492532 43583432 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:0050993 episodic ataxia type 5 susceptibility ISO RGD:68558 D RGD:7240710 20230505 OMIM 43583432 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:0110928 nemaline myopathy 2 ISO RGD:68558 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25205138|PMID:28492532 43583432 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:0111323 idiopathic generalized epilepsy 9 ISO RGD:68558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 9 | ClinVar Annotator: match by term: Epilepsy, juvenile myoclonic, susceptibility to, 6 PMID:10762541|PMID:25741868|PMID:26467025|PMID:28492532 43583432 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:0111323 idiopathic generalized epilepsy 9 susceptibility ISO RGD:68558 D RGD:7240710 20210324 OMIM 43583432 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:68558 D RGD:9068941 20210326 RGD DNA:SNPs:introns: PMID:29495422|REF_RGD_ID:13515053 43583432 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:68558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:10762541|PMID:17576681|PMID:18755274|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28492532|PMID:9536098 43583432 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:68558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Juvenile myoclonic epilepsy PMID:10762541|PMID:25741868|PMID:26467025|PMID:28492532 43583432 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:630 genetic disease ISO RGD:68558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 43583432 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:9001793 Generalized Epilepsy ISO RGD:68558 D RGD:9068941 20210326 CTD CTD Direct Evidence: marker/mechanism PMID:10762541 43583432 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:9001793 Generalized Epilepsy ISO RGD:68558 D RGD:9068941 20210326 RGD PMID:10762541|REF_RGD_ID:734674 43583432 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:9004866 Ataxia ISO RGD:68558 D RGD:9068941 20210326 CTD CTD Direct Evidence: marker/mechanism PMID:10762541 43583432 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:963 episodic ataxia ISO RGD:68558 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Hereditary episodic ataxia 43760057 ARL6IP6 ADP ribosylation factor like GTPase 6 interacting protein 6 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1347021 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868 43760057 ARL6IP6 ADP ribosylation factor like GTPase 6 interacting protein 6 gene DOID:630 genetic disease ISO RGD:1347021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases